51)	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)		TGGCTCCTTGCTAAGCCAGGC	0.418			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				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						c.(52-54)Gca>Aca	Homologous recombination	breast cancer 1, early onset							162	150	154					17																	41246608		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246608C>T	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.940G>A	17.37:g.41246608C>T	ENSP00000350283:p.Ala314Thr	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A314T|BRCA1_ENST00000354071.3_Missense_Mutation_p.A314T|BRCA1_ENST00000493795.1_Missense_Mutation_p.A267T|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A314T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.A314T	p.A18T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1079	-		Breast(137;0.000717)	314		M -> T (in BC; unknown pathological significance).			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.52G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689207	0.68271	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;D;D;D;D;D;D;D;D	0.97710	-2.52;-2.64;-2.62;-3.02;-2.53;-2.64;-3.05;-4.5;-3.2;-2.74	4.73	3.75	0.43078	.	0.110360	0.41097	D	0.000942	D	0.97945	0.9324	M	0.88310	2.945	0.32100	N	0.59068	D;D;P;P;P;P	0.53619	0.961;0.961;0.931;0.762;0.864;0.659	P;P;P;P;P;P	0.49332	0.541;0.541;0.566;0.542;0.521;0.607	D	0.98633	1.0672	10	0.66056	D	0.02	.	13.7087	0.62654	0.0:0.8457:0.1543:0.0	.	314;273;314;314;314;314	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	T	314;314;314;314;18;314;267;314;288;18;314	ENSP00000350283:A314T;ENSP00000326002:A314T;ENSP00000246907:A314T;ENSP00000310938:A18T;ENSP00000418960:A314T;ENSP00000418775:A267T;ENSP00000419274:A314T;ENSP00000419988:A288T;ENSP00000418986:A18T;ENSP00000419103:A314T	ENSP00000310938:A18T	A	-	1	0	BRCA1	38500134	0.012000	0.17670	1.000000	0.80357	0.986000	0.74619	0.149000	0.16243	1.338000	0.45544	0.655000	0.94253	GCA		0.418	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		109	524	0	0	0	1	0	109	524					T	41246608	C	T	41246608	3	4	79	1	0	0	0	0	1	0	0	0	1502	797	28	2	4777	2	BRCA1	17	41246608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23446	41246608	39948602	17343	27660											
ARL4D	379	broad.mit.edu	37	chr17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccacttgactgagatggCgcccactgcctcctccttct	8	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477126C>T	ENST00000320033.4	+	2	233	c.26C>T	c.(25-27)gCg>gTg	p.A9V		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	9					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572																																						ENST00000320033.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(25-27)gCg>gTg		ADP-ribosylation factor-like 4D							70	68	68					17																	41477126		2203	4300	6503	SO:0001583	missense	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477126C>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.26C>T	17.37:g.41477126C>T	ENSP00000322628:p.Ala9Val						p.A9V	NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	233	+		Breast(137;0.00908)	9					B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	c.26C>T	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892269	0.52014	.	.	ENSG00000175906	ENST00000320033	T	0.75367	-0.93	4.82	4.82	0.62117	.	0.137736	0.48286	D	0.000187	T	0.62684	0.2448	L	0.52266	1.64	0.58432	D	0.999994	P	0.47253	0.892	B	0.29663	0.105	T	0.67546	-0.5643	10	0.35671	T	0.21	-10.645	15.2659	0.73660	0.0:1.0:0.0:0.0	.	9	P49703	ARL4D_HUMAN	V	9	ENSP00000322628:A9V	ENSP00000322628:A9V	A	+	2	0	ARL4D	38832652	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	5.008000	0.63991	2.643000	0.89663	0.563000	0.77884	GCG		0.572	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		85	288	0	0	0	1	0	85	288					T	41477126	C	T	41477126	3	4	79	1	0	0	0	0	1	0	0	0	939	768	27	1	28	1	ARL4D	17	41477126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230518	41477126	39718084	17344	27661											
ARL4D	379	broad.mit.edu	37	chr17	41477547	41477547	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgagcgctgctgaggtggaGaagaggctggcagtccgaga	18	8	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477547G>T	ENST00000320033.4	+	2	654	c.447G>T	c.(445-447)gaG>gaT	p.E149D		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	149					GTP catabolic process (GO:0006184)|protein secretion (GO:0009306)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGAGGTGGAGAAGAGGCTGG	0.672																																						ENST00000320033.4																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(445-447)gaG>gaT		ADP-ribosylation factor-like 4D							15	16	16					17																	41477547		2198	4295	6493	SO:0001583	missense	379				protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:41477547G>T	AB060692	CCDS11463.1	17q21.31	2014-05-09	2005-11-03	2005-11-03	ENSG00000175906	ENSG00000175906		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	656	protein-coding gene	gene with protein product		600732	"ADP-ribosylation factor 4-like"	ARF4L		7590735	Standard	NM_001661		Approved		uc002idt.3	P49703		ENST00000320033.4:c.447G>T	17.37:g.41477547G>T	ENSP00000322628:p.Glu149Asp						p.E149D	NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	2	654	+		Breast(137;0.00908)	149					B2RC59|D3DX43	Missense_Mutation	SNP	ENST00000320033.4	37	c.447G>T	CCDS11463.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971464	0.74246	.	.	ENSG00000175906	ENST00000320033	T	0.64085	-0.08	4.82	2.84	0.33178	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.78285	2.405	0.49299	D	0.999775	D	0.69078	0.997	D	0.72338	0.977	T	0.74244	-0.3728	10	0.72032	D	0.01	-7.8562	7.6798	0.28507	0.2572:0.0:0.7428:0.0	.	149	P49703	ARL4D_HUMAN	D	149	ENSP00000322628:E149D	ENSP00000322628:E149D	E	+	3	2	ARL4D	38833073	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.576000	0.67437	0.638000	0.30545	0.462000	0.41574	GAG		0.672	ARL4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453481.2	NM_001661		24	74	1	0	2.21704e-12	1	2.37967e-12	24	74					T	41477547	G	T	41477547	3	4	79	1	0	0	0	0	1	0	0	0	939	933	33	3	449	3	ARL4D	17	41477547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	421	41477547	39717663	17345	27662											
DHX8	1659	broad.mit.edu	37	chr17	41585306	41585306	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacatatccagtggaaataCtgtacacaaaggaacctgag	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41585306C>T	ENST00000262415.3	+	15	2311	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	DHX8_ENST00000540306.1_Silent_p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	747					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)		AGTGGAAATACTGTACACAAA	0.428																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				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						c.(2239-2241)Ctg>Ttg		DEAH (Asp-Glu-Ala-His) box polypeptide 8							105	97	100					17																	41585306		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41585306C>T	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.2239C>T	17.37:g.41585306C>T						DHX8_ENST00000540306.1_Silent_p.L747L	p.L747L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	15	2311	+		Breast(137;0.00908)	747						Silent	SNP	ENST00000262415.3	37	c.2239C>T	CCDS11464.1																																																																																				0.428	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			106	463	0	0	0	1	0	106	463					T	41585306	C	T	41585306	2	4	79	1	0	0	0	0	0	0	0	1	4531	564	20	2		2	DHX8	17	41585306	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107759	41585306	39609904	17346	27663											
DHX8	1659	broad.mit.edu	37	chr17	41599414	41599414	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttttgtcctatcttgataGacacaagctggatgttgttt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41599414G>T	ENST00000262415.3	+	22	3335		c.e22-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8						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)		TATCTTGATAGACACAAGCTG	0.498																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				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						c.e22-1		DEAH (Asp-Glu-Ala-His) box polypeptide 8							190	179	183					17																	41599414		2203	4300	6503	SO:0001630	splice_region_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41599414G>T	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.3264-1G>T	17.37:g.41599414G>T						DHX8_ENST00000540306.1_Splice_Site		NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	22	3335	+		Breast(137;0.00908)							Splice_Site	SNP	ENST00000262415.3	37		CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662375	0.88251	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7186	0.91685	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX8	38954940	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.992000	0.88273	2.735000	0.93741	0.655000	0.94253	.		0.498	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		Intron	160	814	1	0	2.33983e-75	1	2.98337e-75	160	814					T	41599414	G	T	41599414	5	4	79	1	0	0	0	0	0	0	1	0	4531	956	33	3	3349	3	DHX8	17	41599414	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14108	41599414	39595796	17347	27664											
ETV4	2118	broad.mit.edu	37	chr17	41607026	41607026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctctcgaaatgcaccgaccCcttcctgcttgatgtctcct	6	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41607026C>T	ENST00000319349.5	-	11	1272	c.974G>A	c.(973-975)gGg>gAg	p.G325E	ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000591713.1_Missense_Mutation_p.G325E|ETV4_ENST00000545954.1_Missense_Mutation_p.G286E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	325					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)		TGCACCGACCCCTTCCTGCTT	0.597			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"			"M, E"	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"		"Ewing sarcoma, Prostate carcinoma"	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(973-975)gGg>gAg		ets variant 4							54	61	59					17																	41607026		2203	4300	6503	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41607026C>T	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.974G>A	17.37:g.41607026C>T	ENSP00000321835:p.Gly325Glu					ETV4_ENST00000545954.1_Missense_Mutation_p.G286E|ETV4_ENST00000545089.1_Missense_Mutation_p.G271E|ETV4_ENST00000586826.1_Missense_Mutation_p.G48E|ETV4_ENST00000538265.1_Missense_Mutation_p.G286E|ETV4_ENST00000393664.2_Missense_Mutation_p.G325E|ETV4_ENST00000591713.1_Missense_Mutation_p.G325E	p.G325E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	11	1272	-		Breast(137;0.00908)	325					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.974G>A	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429589	0.62844	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.08282	3.12;3.12;3.11;3.11;3.11	6.04	6.04	0.98038	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.094180	0.64402	D	0.000001	T	0.24661	0.0598	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.992;0.984;1.0	D;P;D	0.97110	0.944;0.825;1.0	T	0.00020	-1.2356	10	0.44086	T	0.13	.	15.1851	0.72993	0.1402:0.8598:0.0:0.0	.	271;286;325	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	E	325;325;286;286;271	ENSP00000321835:G325E;ENSP00000377273:G325E;ENSP00000443846:G286E;ENSP00000440023:G286E;ENSP00000441749:G271E	ENSP00000321835:G325E	G	-	2	0	ETV4	38962552	0.980000	0.34600	0.993000	0.49108	0.233000	0.25261	2.540000	0.45727	2.873000	0.98535	0.561000	0.74099	GGG		0.597	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		21	611	0	0	0	1	0	21	611					T	41607026	C	T	41607026	3	4	79	1	0	0	0	0	1	0	0	0	5299	623	22	2	492	2	ETV4	17	41607026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7612	41607026	39588184	17348	27665											
MEOX1	4222	broad.mit.edu	37	chr17	41720868	41720868	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggcgcacctggcgctcagaGaggtccaggtttaccgcaat	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41720868G>T	ENST00000318579.4	-	2	1049	c.630C>A	c.(628-630)ctC>ctA	p.L210L	MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	210					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)		GGCGCTCAGAGAGGTCCAGGT	0.607																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(628-630)ctC>ctA		mesenchyme homeobox 1							53	47	49					17																	41720868		2203	4299	6502	SO:0001819	synonymous_variant	4222					nucleus	sequence-specific DNA binding	g.chr17:41720868G>T		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.630C>A	17.37:g.41720868G>T						MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000393661.2_Silent_p.L95L|MEOX1_ENST00000549132.1_Intron	p.L210L	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	2	1049	-		Breast(137;0.00908)	210					A8K524|A8MWF9|Q15069	Silent	SNP	ENST00000318579.4	37	c.630C>A	CCDS11466.1																																																																																				0.607	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			5	40	1	0	0.000602214	1	0.000609647	5	40					T	41720868	G	T	41720868	2	4	79	1	0	0	0	0	0	0	0	1	9514	929	33	3		3	MEOX1	17	41720868	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113842	41720868	39474342	17349	27666											
MEOX1	4222	broad.mit.edu	37	chr17	41738457	41738457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctcctttctccgcctgGatgatttcttctctgtctca	5	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41738457G>A	ENST00000318579.4	-	1	865	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S|MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149					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)		TCTCCGCCTGGATGATTTCTT	0.577																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(445-447)tCc>tTc		mesenchyme homeobox 1							197	197	197					17																	41738457		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738457G>A		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.446C>T	17.37:g.41738457G>A	ENSP00000321684:p.Ser149Phe					MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S	p.S149F	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	865	-		Breast(137;0.00908)	149					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.446C>T	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748940|2.748940	0.49257|0.49257	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168;ENST00000393661	.|D;T;D	.|0.91996	.|-2.95;0.42;-2.91	4.99|4.99	2.95|2.95	0.34219|0.34219	.|.	.|0.711794	.|0.14610	.|N	.|0.309064	D|D	0.91071|0.91071	0.7190|0.7190	L|L	0.42245|0.42245	1.32|1.32	0.39430|0.39430	D|D	0.967062|0.967062	.|P;P	.|0.46220	.|0.874;0.523	.|P;B	.|0.51355	.|0.667;0.429	D|D	0.89161|0.89161	0.3530|0.3530	6|10	0.87932|0.72032	D|D	0|0.01	-11.643|-11.643	9.0032|9.0032	0.36094|0.36094	0.0785:0.147:0.7746:0.0|0.0785:0.147:0.7746:0.0	.|.	.|149;149	.|Q15069;P50221	.|.;MEOX1_HUMAN	S|F	120|149;149;34	.|ENSP00000321684:S149F;ENSP00000328678:S149F;ENSP00000377271:S34F	ENSP00000449049:P120S|ENSP00000321684:S149F	P|S	-|-	1|2	0|0	MEOX1|MEOX1	39093983|39093983	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	2.401000|2.401000	0.44513|0.44513	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.577	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			223	1074	0	0	0	1	0	223	1074					A	41738457	G	A	41738457	3	1	79	1	0	0	0	0	1	0	0	0	9514	1174	41	2	330	2	MEOX1	17	41738457	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17589	41738457	39456753	17350	27667											
MPP2	4355	broad.mit.edu	37	chr17	41958122	41958122	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttcttcaggctgcgccGtcccacgccctgagccccaa	9	18	2	1	rs182947184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41958122G>A	ENST00000461854.1	-	11	1244	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000269095.4_Missense_Mutation_p.R363W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000518766.1_Missense_Mutation_p.R408W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	387	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(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)		AGGCTGCGCCGTCCCACGCCC	0.607											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	0.0008	0.0	5008	,	,		20435	0.0		0.0	False		,,,				2504	0.0					ENST00000269095.4																			0				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						c.(1087-1089)Cgg>Tgg		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							100	91	94					17																	41958122		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958122G>A		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.1159C>T	17.37:g.41958122G>A	ENSP00000428286:p.Arg387Trp		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000518766.1_Missense_Mutation_p.R408W|MPP2_ENST00000520305.1_Missense_Mutation_p.R224W|MPP2_ENST00000536246.1_Missense_Mutation_p.R352W|MPP2_ENST00000523501.1_Missense_Mutation_p.R352W|MPP2_ENST00000461854.1_Missense_Mutation_p.R387W|MPP2_ENST00000377184.3_Missense_Mutation_p.R380W	p.R363W	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	10	1391	-		Breast(137;0.00314)	387					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1087C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	24.8	4.566265	0.86439	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.02	5.02	0.67125	.	.	.	.	.	T	0.55768	0.1941	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66484	-0.5912	9	0.87932	D	0	.	11.3615	0.49646	0.0:0.0:0.8187:0.1813	.	408;380	E7EV80;Q14168-3	.;.	W	380;363;387;224;352;352;408	ENSP00000366389:R380W;ENSP00000269095:R363W;ENSP00000428286:R387W;ENSP00000428136:R224W;ENSP00000430540:R352W;ENSP00000438012:R352W;ENSP00000428182:R408W	ENSP00000269095:R363W	R	-	1	2	MPP2	39313648	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.519000	0.73768	2.511000	0.84671	0.485000	0.47835	CGG		0.607	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		92	388	0	0	0	1	0	92	388					A	41958122	G	A	41958122	3	1	79	1	0	0	0	0	1	0	0	0	9775	1144	40	1	587	1	MPP2	17	41958122	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	219665	41958122	39237088	17351	27668											
TMEM101	84336	broad.mit.edu	37	chr17	42090467	42090467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtacagctccccagcaccGctggccaacacaagaaagcc	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42090467G>A	ENST00000589334.1	-	4	690	c.375C>T	c.(373-375)agC>agT	p.S125S	TMEM101_ENST00000587529.1_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S|TMEM101_ENST00000206380.3_Silent_p.S125S			Q96IK0	TM101_HUMAN	transmembrane protein 101	125					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCCAGCACCGCTGGCCAACA	0.622																																						ENST00000589334.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(373-375)agC>agT		transmembrane protein 101							39	31	34					17																	42090467		2203	4300	6503	SO:0001819	synonymous_variant	84336				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr17:42090467G>A	AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.375C>T	17.37:g.42090467G>A						TMEM101_ENST00000206380.3_Silent_p.S125S|TMEM101_ENST00000587529.1_Silent_p.S125S|TMEM101_ENST00000542039.1_Silent_p.S67S	p.S125S			Q96IK0	TM101_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	4	690	-		Breast(137;0.0264)|Prostate(33;0.0861)	125					B2R9N6	Silent	SNP	ENST00000589334.1	37	c.375C>T	CCDS11474.1																																																																																				0.622	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457665.1	NM_032376		45	175	0	0	0	1	0	45	175					A	42090467	G	A	42090467	2	1	79	1	0	0	0	0	0	0	0	1	16068	1078	38	1		1	TMEM101	17	42090467	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132345	42090467	39104743	17352	27669											
G6PC3	92579	broad.mit.edu	37	chr17	42153230	42153230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccagaagatagcctgccTtgtgctggccatggggctgc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42153230T>G	ENST00000269097.4	+	6	1091	c.860T>G	c.(859-861)cTt>cGt	p.L287R		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	287					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)		ATAGCCTGCCTTGTGCTGGCC	0.622																																						ENST00000269097.4																			0				endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11						c.(859-861)cTt>cGt		glucose 6 phosphatase, catalytic, 3							63	61	62					17																	42153230		2203	4300	6503	SO:0001583	missense	92579				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr17:42153230T>G	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.860T>G	17.37:g.42153230T>G	ENSP00000269097:p.Leu287Arg						p.L287R	NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	1091	+		Breast(137;0.00637)|Prostate(33;0.0313)	287					Q8WU15	Missense_Mutation	SNP	ENST00000269097.4	37	c.860T>G	CCDS11476.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668251	0.47677	.	.	ENSG00000141349	ENST00000269097	T	0.79454	-1.27	5.18	5.18	0.71444	.	0.411941	0.23644	N	0.045981	T	0.66538	0.2799	L	0.39898	1.24	0.09310	N	0.999999	P	0.37955	0.612	B	0.34722	0.188	T	0.64888	-0.6301	10	0.66056	D	0.02	-35.6274	7.593	0.28031	0.0:0.0926:0.0:0.9074	.	287	Q9BUM1	G6PC3_HUMAN	R	287	ENSP00000269097:L287R	ENSP00000269097:L287R	L	+	2	0	G6PC3	39508756	0.992000	0.36948	0.417000	0.26559	0.684000	0.39900	4.629000	0.61290	2.181000	0.69327	0.533000	0.62120	CTT		0.622	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457675.1	NM_138387		98	413	0	0	0	1	0	98	413					G	42153230	T	G	42153230	3	3	79	1	0	0	0	0	1	0	0	0	6172	1609	56	4	882	4	G6PC3	17	42153230	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62763	42153230	39041980	17353	27670											
HDAC5	10014	broad.mit.edu	37	chr17	42161219	42161219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacatcttctggctgatgGggcctgcatggaagaggaat	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42161219G>A	ENST00000393622.2	-	17	2640	c.2309C>T	c.(2308-2310)cCc>cTc	p.P770L	HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L|HDAC5_ENST00000225983.6_Missense_Mutation_p.P771L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	770	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)		CTGGCTGATGGGGCCTGCATG	0.597																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2311-2313)cCc>cTc		histone deacetylase 5							60	59	59					17																	42161219		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42161219G>A	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.2309C>T	17.37:g.42161219G>A	ENSP00000377244:p.Pro770Leu					HDAC5_ENST00000393622.2_Missense_Mutation_p.P770L|HDAC5_ENST00000336057.5_Missense_Mutation_p.P685L|HDAC5_ENST00000586802.1_Missense_Mutation_p.P770L	p.P771L			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	17	2635	-		Breast(137;0.00637)|Prostate(33;0.0313)	770			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2312C>T	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657976	0.47467	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.69561	-0.41;-0.41;1.21	5.0	5.0	0.66597	Histone deacetylase domain (2);	0.229124	0.36134	N	0.002771	T	0.56572	0.1994	N	0.01817	-0.705	0.80722	D	1	D;B;B;B	0.63046	0.992;0.0;0.0;0.0	P;B;B;B	0.59643	0.861;0.012;0.003;0.004	T	0.65088	-0.6253	10	0.27785	T	0.31	-17.6981	17.2411	0.87013	0.0:0.0:1.0:0.0	.	685;770;771;770	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	L	771;770;685	ENSP00000225983:P771L;ENSP00000377244:P770L;ENSP00000337290:P685L	ENSP00000225983:P771L	P	-	2	0	HDAC5	39516745	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.382000	0.66213	2.607000	0.88179	0.655000	0.94253	CCC		0.597	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		76	314	0	0	0	1	0	76	314					A	42161219	G	A	42161219	3	1	79	1	0	0	0	0	1	0	0	0	7040	1232	43	2	1103	2	HDAC5	17	42161219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7989	42161219	39033991	17354	27671											
TMUB2	79089	broad.mit.edu	37	chr17	42266863	42266863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcacctgcctccctcccaGccctggcctcatcactgtgc	7	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42266863G>A	ENST00000587989.1	+	3	662	c.509G>A	c.(508-510)aGc>aAc	p.S170N	TMUB2_ENST00000319511.6_Missense_Mutation_p.S150N|TMUB2_ENST00000592825.1_Intron|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	170						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCCTCCCAGCCCTGGCCTC	0.602																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(448-450)aGc>aAc		transmembrane and ubiquitin-like domain containing 2							48	48	48					17																	42266863		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266863G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.509G>A	17.37:g.42266863G>A	ENSP00000466971:p.Ser170Asn					TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000587989.1_Missense_Mutation_p.S170N|TMUB2_ENST00000538716.2_Missense_Mutation_p.S170N|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000446571.3_Missense_Mutation_p.S113N|TMUB2_ENST00000357984.3_Missense_Mutation_p.S150N|TMUB2_ENST00000589785.1_Missense_Mutation_p.S150N|TMUB2_ENST00000589856.1_Missense_Mutation_p.S150N	p.S150N	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	1099	+		Breast(137;0.00765)|Prostate(33;0.0181)	170					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.449G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752706	0.15778	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.64	3.43	0.39272	.	0.509177	0.22384	N	0.060766	T	0.23410	0.0566	N	0.16478	0.41	0.09310	N	0.999993	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.07065	-1.0792	10	0.31617	T	0.26	-6.288	7.3111	0.26475	0.1962:0.0:0.8038:0.0	.	113;150;170	E7ESS3;Q71RG4-3;Q71RG4	.;.;TMUB2_HUMAN	N	113;150;170;150	ENSP00000413127:S113N;ENSP00000350672:S150N;ENSP00000444565:S170N;ENSP00000313214:S150N	ENSP00000313214:S150N	S	+	2	0	TMUB2	39622389	0.579000	0.26725	0.836000	0.33094	0.850000	0.48378	2.586000	0.46119	2.128000	0.65567	0.561000	0.74099	AGC		0.602	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		41	314	0	0	0	1	0	41	314					A	42266863	G	A	42266863	3	1	79	1	0	0	0	0	1	0	0	0	16317	971	34	2	515	2	TMUB2	17	42266863	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105644	42266863	38928347	17355	27672											
ATXN7L3	56970	broad.mit.edu	37	chr17	42273420	42273420	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accatttttgtgttttaatgActtggatcttcgaggggaat	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273420A>G	ENST00000454077.2	-	6	525	c.526T>C	c.(526-528)Tca>Cca	p.S176P	ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.S169P	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTTTTAATGACTTGGATCTT	0.537																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(505-507)Tca>Cca		ataxin 7-like 3							93	90	91					17																	42273420		1856	4094	5950	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42273420A>G	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.526T>C	17.37:g.42273420A>G	ENSP00000397259:p.Ser176Pro					ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.S176P	p.S169P	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	813	-		Breast(137;0.00765)|Prostate(33;0.0181)	169						Missense_Mutation	SNP	ENST00000454077.2	37	c.505T>C	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595838	0.66332	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.064498	0.64402	D	0.000005	T	0.58177	0.2104	L	0.36672	1.1	0.58432	D	0.999994	B;D	0.54964	0.005;0.969	B;P	0.52424	0.006;0.698	T	0.59490	-0.7445	9	0.45353	T	0.12	.	13.6304	0.62191	1.0:0.0:0.0:0.0	.	169;176	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	P	176;169	.	ENSP00000374035:S169P	S	-	1	0	ATXN7L3	39628946	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.799000	0.75160	1.858000	0.53909	0.454000	0.30748	TCA		0.537	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			54	300	0	0	0	1	0	54	300					G	42273420	A	G	42273420	3	3	79	1	0	0	0	0	1	0	0	0	1219	275	10	4	566	4	ATXN7L3	17	42273420	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6557	42273420	38921790	17356	27673											
ATXN7L3	56970	broad.mit.edu	37	chr17	42273431	42273431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttaatgacttggatcttCgaggggaattggggttctgg	15	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273431C>T	ENST00000454077.2	-	6	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.R165Q	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGATCTTCGAGGGGAATT	0.498																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(493-495)cGa>cAa		ataxin 7-like 3							90	88	89					17																	42273431		1852	4092	5944	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42273431C>T	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.515G>A	17.37:g.42273431C>T	ENSP00000397259:p.Arg172Gln					ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R172Q	p.R165Q	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	6	802	-		Breast(137;0.00765)|Prostate(33;0.0181)	165						Missense_Mutation	SNP	ENST00000454077.2	37	c.494G>A	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095123	0.76870	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.75391	0.3843	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	P;D	0.75484	0.788;0.986	T	0.76932	-0.2776	9	0.54805	T	0.06	.	16.9903	0.86352	0.0:1.0:0.0:0.0	.	165;172	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	Q	172;165	.	ENSP00000374035:R165Q	R	-	2	0	ATXN7L3	39628957	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.202000	0.77856	2.290000	0.77057	0.556000	0.70494	CGA		0.498	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			73	307	0	0	0	1	0	73	307					T	42273431	C	T	42273431	3	4	79	1	0	0	0	0	1	0	0	0	1219	884	31	1	577	1	ATXN7L3	17	42273431	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	42273431	38921779	17357	27674											
UBTF	7343	broad.mit.edu	37	chr17	42287719	42287719	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtagtcgccgataacgctCtgttgccagatctcctcagc	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42287719C>A	ENST00000302904.4	-	14	1974	c.1482G>T	c.(1480-1482)caG>caT	p.Q494H	UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	494					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)		CGATAACGCTCTGTTGCCAGA	0.652											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302904.4																			0				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						c.(1480-1482)caG>caT		upstream binding transcription factor, RNA polymerase I							80	77	78					17																	42287719		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42287719C>A	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.1482G>T	17.37:g.42287719C>A	ENSP00000302640:p.Gln494His		OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	907	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.Q457H|UBTF_ENST00000533177.1_Missense_Mutation_p.Q457H|UBTF_ENST00000393606.3_Missense_Mutation_p.Q457H|UBTF_ENST00000529383.1_Missense_Mutation_p.Q494H|UBTF_ENST00000527034.1_Missense_Mutation_p.Q457H|UBTF_ENST00000436088.1_Missense_Mutation_p.Q494H|UBTF_ENST00000343638.5_Missense_Mutation_p.Q457H	p.Q494H			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	14	1974	-		Breast(137;0.00765)|Prostate(33;0.0181)	494					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.1482G>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	15.89	2.965453	0.53507	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000529373	D;D;D;D;D;D;D;D;T	0.98221	-4.76;-4.03;-4.8;-4.76;-4.03;-4.76;-4.76;-4.03;1.93	4.61	3.59	0.41128	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	N	0.19112	0.55	0.53688	D	0.999979	P;D;B	0.71674	0.476;0.998;0.379	B;D;B	0.65233	0.086;0.933;0.162	D	0.95584	0.8649	10	0.56958	D	0.05	-35.517	9.1917	0.37204	0.0:0.7686:0.1485:0.0829	.	457;457;494	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	H	457;494;457;457;494;457;457;494;81	ENSP00000345297:Q457H;ENSP00000302640:Q494H;ENSP00000431539:Q457H;ENSP00000437180:Q457H;ENSP00000390669:Q494H;ENSP00000377231:Q457H;ENSP00000432925:Q457H;ENSP00000435708:Q494H;ENSP00000431295:Q81H	ENSP00000302640:Q494H	Q	-	3	2	UBTF	39643245	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.868000	0.56055	2.392000	0.81423	0.467000	0.42956	CAG		0.652	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		13	550	1	0	0.000308642	1	0.000312942	13	550					A	42287719	C	A	42287719	3	1	79	1	0	0	0	0	1	0	0	0	16963	912	32	3	844	3	UBTF	17	42287719	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14288	42287719	38907491	17358	27675											
UBTF	7343	broad.mit.edu	37	chr17	42295570	42295570	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggggcggccatttccaggtCtgtggggcagtcggcttctc	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42295570C>T	ENST00000302904.4	-	2	520	c.28G>A	c.(28-30)Gac>Aac	p.D10N	UBTF_ENST00000343638.5_Missense_Mutation_p.D10N|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	10					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)		ATTTCCAGGTCTGTGGGGCAG	0.652											OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302904.4																			0				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						c.(28-30)Gac>Aac		upstream binding transcription factor, RNA polymerase I							65	71	69					17																	42295570		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42295570C>T	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.28G>A	17.37:g.42295570C>T	ENSP00000302640:p.Asp10Asn		OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	907	UBTF_ENST00000526094.1_Missense_Mutation_p.D10N|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.D10N|UBTF_ENST00000393606.3_Missense_Mutation_p.D10N|UBTF_ENST00000529383.1_Missense_Mutation_p.D10N|UBTF_ENST00000527034.1_Missense_Mutation_p.D10N|UBTF_ENST00000436088.1_Missense_Mutation_p.D10N|UBTF_ENST00000343638.5_Missense_Mutation_p.D10N	p.D10N			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	2	520	-		Breast(137;0.00765)|Prostate(33;0.0181)	10					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.28G>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.150388	0.57151	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;T	0.98419	-4.8;-4.06;-4.92;-4.8;-4.06;-4.8;-4.8;-4.06;0.87	4.41	4.41	0.53225	.	0.401718	0.20201	U	0.097092	D	0.94588	0.8256	N	0.24115	0.695	0.26591	N	0.973195	B;B;B	0.29716	0.167;0.003;0.255	B;B;B	0.26614	0.045;0.003;0.071	D	0.90894	0.4763	10	0.66056	D	0.02	-26.5052	10.4813	0.44695	0.0:0.9094:0.0:0.0906	.	10;10;10	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	N	10	ENSP00000345297:D10N;ENSP00000302640:D10N;ENSP00000431539:D10N;ENSP00000437180:D10N;ENSP00000390669:D10N;ENSP00000377231:D10N;ENSP00000432925:D10N;ENSP00000435708:D10N;ENSP00000433046:D10N	ENSP00000302640:D10N	D	-	1	0	UBTF	39651096	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.537000	0.45702	2.301000	0.77427	0.561000	0.74099	GAC		0.652	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		100	524	0	0	0	1	0	100	524					T	42295570	C	T	42295570	3	4	79	1	0	0	0	0	1	0	0	0	16963	913	32	2	2346	2	UBTF	17	42295570	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7851	42295570	38899640	17359	27676											
SLC25A39	51629	broad.mit.edu	37	chr17	42398522	42398522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttcgaacacaggcacccaGctcccggtacgacacatgct	9	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398522G>T	ENST00000377095.5	-	8	714	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000225308.8_Missense_Mutation_p.L191M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	199					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)		CAGGCACCCAGCTCCCGGTAC	0.632																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(571-573)Ctg>Atg		solute carrier family 25, member 39							39	35	36					17																	42398522		2203	4299	6502	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398522G>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.595C>A	17.37:g.42398522G>T	ENSP00000366299:p.Leu199Met					SLC25A39_ENST00000377095.5_Missense_Mutation_p.L199M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.L191M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.L67M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.L176M	p.L191M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	745	-		Prostate(33;0.0233)	199					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.571C>A	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974157	0.18736	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80033	-1.33;-1.33;-1.33	5.31	1.23	0.21249	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000003	T	0.79981	0.4540	L	0.40543	1.245	0.52501	D	0.999955	P;D;P	0.61697	0.767;0.99;0.88	P;D;B	0.63957	0.525;0.92;0.444	T	0.72921	-0.4145	10	0.21014	T	0.42	-23.3157	8.4608	0.32927	0.369:0.0:0.631:0.0	.	176;199;191	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	191;199;176	ENSP00000225308:L191M;ENSP00000366299:L199M;ENSP00000444540:L176M	ENSP00000225308:L191M	L	-	1	2	SLC25A39	39754048	1.000000	0.71417	0.856000	0.33681	0.045000	0.14185	1.822000	0.39052	0.118000	0.18165	-0.137000	0.14449	CTG		0.632	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		15	183	1	0	2.32078e-09	1	2.442e-09	15	183					T	42398522	G	T	42398522	3	4	79	1	0	0	0	0	1	0	0	0	14553	962	34	3	504	3	SLC25A39	17	42398522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102952	42398522	38796688	17360	27677											
SLC25A39	51629	broad.mit.edu	37	chr17	42398537	42398537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagctcccggtacgacaCatgctgagcctgcagctttg	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398537C>T	ENST00000377095.5	-	8	699	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000225308.8_Missense_Mutation_p.V186M	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	194					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)		CGGTACGACACATGCTGAGCC	0.627																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(556-558)Gtg>Atg		solute carrier family 25, member 39							44	40	41					17																	42398537		2202	4300	6502	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42398537C>T	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"Solute carriers"	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.580G>A	17.37:g.42398537C>T	ENSP00000366299:p.Val194Met					SLC25A39_ENST00000377095.5_Missense_Mutation_p.V194M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V186M|SLC25A39_ENST00000586016.1_Missense_Mutation_p.V62M|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V171M	p.V186M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	8	730	-		Prostate(33;0.0233)	194					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.556G>A	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	7.056	0.565521	0.13560	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.79033	-1.23;-1.23;-1.23	5.31	2.02	0.26589	Mitochondrial carrier domain (2);	0.241487	0.33980	N	0.004373	T	0.69637	0.3133	L	0.41632	1.29	0.40027	D	0.975488	B;B;B	0.15473	0.001;0.013;0.001	B;B;B	0.16722	0.016;0.01;0.009	T	0.65413	-0.6174	10	0.31617	T	0.26	-16.7721	16.3624	0.83273	0.0:0.3223:0.6777:0.0	.	171;194;186	B4DFG5;Q9BZJ4;Q9BZJ4-2	.;S2539_HUMAN;.	M	186;194;171	ENSP00000225308:V186M;ENSP00000366299:V194M;ENSP00000444540:V171M	ENSP00000225308:V186M	V	-	1	0	SLC25A39	39754063	0.998000	0.40836	0.015000	0.15790	0.020000	0.10135	2.820000	0.48057	0.777000	0.33496	0.655000	0.94253	GTG		0.627	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		17	194	0	0	0	1	0	17	194					T	42398537	C	T	42398537	3	4	79	1	0	0	0	0	1	0	0	0	14553	478	17	2	519	2	SLC25A39	17	42398537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	42398537	38796673	17361	27678											
GRN	2896	broad.mit.edu	37	chr17	42429421	42429421	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagcactgctgcccccaGggctacacgtgtgtagctga	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429421G>T	ENST00000053867.3	+	11	1280	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H	GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	406					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTGCCCCCAGGGCTACACGT	0.657																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1216-1218)caG>caT		granulin							46	47	46					17																	42429421		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429421G>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1218G>T	17.37:g.42429421G>T	ENSP00000053867:p.Gln406His					GRN_ENST00000589265.1_Missense_Mutation_p.Q249H	p.Q406H	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	11	1280	+		Prostate(33;0.0181)	406					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1218G>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601522	0.28534	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.71817	-0.6	4.98	-1.24	0.09435	Granulin (3);	1.020460	0.07832	N	0.961501	T	0.44685	0.1305	N	0.05608	-0.01	0.28734	N	0.90234	B;B	0.11235	0.001;0.004	B;B	0.14023	0.003;0.01	T	0.32666	-0.9898	10	0.36615	T	0.2	-0.6967	3.0421	0.06141	0.0868:0.1987:0.3692:0.3453	.	343;406	B4DJI2;P28799	.;GRN_HUMAN	H	406;226	ENSP00000053867:Q406H	ENSP00000053867:Q406H	Q	+	3	2	GRN	39784947	0.000000	0.05858	0.987000	0.45799	0.942000	0.58702	-0.586000	0.05787	0.123000	0.18342	0.561000	0.74099	CAG		0.657	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		59	291	1	0	9.77497e-20	1	1.09193e-19	59	291					T	42429421	G	T	42429421	3	4	79	1	0	0	0	0	1	0	0	0	6834	991	35	3	1256	3	GRN	17	42429421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30884	42429421	38765789	17362	27679											
GRN	2896	broad.mit.edu	37	chr17	42429451	42429451	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagctgaggggcagtgTcagcgaggaagcgagatcgt	18	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429451T>C	ENST00000053867.3	+	11	1310	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	GRN_ENST00000589265.1_Silent_p.C259C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	416					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGGCAGTGTCAGCGAGGAA	0.642																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1246-1248)tgT>tgC		granulin							62	62	62					17																	42429451		2203	4300	6503	SO:0001819	synonymous_variant	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429451T>C	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1248T>C	17.37:g.42429451T>C						GRN_ENST00000589265.1_Silent_p.C259C	p.C416C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	11	1310	+		Prostate(33;0.0181)	416					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	ENST00000053867.3	37	c.1248T>C	CCDS11483.1																																																																																				0.642	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		74	335	0	0	0	1	0	74	335					C	42429451	T	C	42429451	2	2	79	1	0	0	0	0	0	0	0	1	6834	1673	58	4		4	GRN	17	42429451	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30	42429451	38765759	17363	27680											
GPATCH8	23131	broad.mit.edu	37	chr17	42476826	42476826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtctgaagaggcatctgaGctacttgagtaagaacgccg	13	8	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42476826G>A	ENST00000591680.1	-	8	2649	c.2619C>T	c.(2617-2619)agC>agT	p.S873S	GPATCH8_ENST00000434000.1_Silent_p.S795S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	873	Ser-rich.						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)		AGGCATCTGAGCTACTTGAGT	0.542																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2383-2385)agC>agT		G patch domain containing 8							128	114	119					17																	42476826		2203	4300	6503	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476826G>A	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.2619C>T	17.37:g.42476826G>A						GPATCH8_ENST00000591680.1_Silent_p.S873S	p.S795S			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2667	-		Prostate(33;0.0181)	873					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.2385C>T	CCDS32666.1																																																																																				0.542	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		116	532	0	0	0	1	0	116	532					A	42476826	G	A	42476826	2	1	79	1	0	0	0	0	0	0	0	1	6623	962	34	2		2	GPATCH8	17	42476826	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47375	42476826	38718384	17364	27681											
FZD2	2535	broad.mit.edu	37	chr17	42635747	42635747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcgaacctgcgcggcccGatggttccatgttcttctca	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42635747G>A	ENST00000315323.3	+	1	823	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	231					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)		TGCGCGGCCCGATGGTTCCAT	0.617																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(691-693)Gat>Aat		frizzled family receptor 2							57	54	55					17																	42635747		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635747G>A	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.691G>A	17.37:g.42635747G>A	ENSP00000323901:p.Asp231Asn						p.D231N	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	823	+		Prostate(33;0.0181)	231					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.691G>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	0.258	-1.001330	0.02128	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	T	0.73258	-0.73	4.34	4.34	0.51931	.	0.112484	0.64402	D	0.000017	T	0.41396	0.1157	N	0.01874	-0.695	0.31338	N	0.683994	B	0.12630	0.006	B	0.04013	0.001	T	0.30504	-0.9976	10	0.02654	T	1	.	16.4665	0.84080	0.0:0.0:1.0:0.0	.	231	Q14332	FZD2_HUMAN	N	307;231	ENSP00000323901:D231N	ENSP00000323901:D231N	D	+	1	0	FZD2	39991273	0.767000	0.28508	0.806000	0.32338	0.629000	0.37895	1.461000	0.35255	1.935000	0.56089	0.561000	0.74099	GAT		0.617	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		60	301	0	0	0	1	0	60	301					A	42635747	G	A	42635747	3	1	79	1	0	0	0	0	1	0	0	0	6157	1058	37	1	693	1	FZD2	17	42635747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158921	42635747	38559463	17365	27682											
FZD2	2535	broad.mit.edu	37	chr17	42636670	42636670	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggcatcacgtcgggcttctgGatctggtcgggcaagacgct	15	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42636670G>T	ENST00000315323.3	+	1	1746	c.1614G>T	c.(1612-1614)tgG>tgT	p.W538C		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	538					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)		CGGGCTTCTGGATCTGGTCGG	0.627																																						ENST00000315323.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1612-1614)tgG>tgT		frizzled family receptor 2							32	31	31					17																	42636670		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636670G>T	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.1614G>T	17.37:g.42636670G>T	ENSP00000323901:p.Trp538Cys						p.W538C	NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1746	+		Prostate(33;0.0181)	538					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1614G>T	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	18.33	3.599520	0.66332	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.91464	-2.85	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98737	1.0715	10	0.87932	D	0	.	17.6599	0.88189	0.0:0.0:1.0:0.0	.	538	Q14332	FZD2_HUMAN	C	614;538	ENSP00000323901:W538C	ENSP00000323901:W538C	W	+	3	0	FZD2	39992196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.866000	0.99616	2.236000	0.73375	0.555000	0.69702	TGG		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		6	177	1	0	0.00116845	1	0.00118049	6	177					T	42636670	G	T	42636670	3	4	79	1	0	0	0	0	1	0	0	0	6157	1183	41	3	1616	3	FZD2	17	42636670	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	923	42636670	38558540	17366	27683											
DBF4B	80174	broad.mit.edu	37	chr17	42800334	42800334	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaaagtccttttacttggatCtgcctgctggcaagaatctc	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42800334C>A	ENST00000315005.3	+	3	307	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M|DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	57	BRCT.				cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTACTTGGATCTGCCTGCTGG	0.502																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(169-171)Ctg>Atg		DBF4 homolog B (S. cerevisiae)							86	84	85					17																	42800334		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42800334C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.169C>A	17.37:g.42800334C>A	ENSP00000323663:p.Leu57Met					DBF4B_ENST00000393547.2_Missense_Mutation_p.L57M|DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.L57M	p.L57M	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			3	307	+		Prostate(33;0.0322)	57			BRCT.		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.169C>A	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617235	0.66672	.	.	ENSG00000161692	ENST00000393547;ENST00000439818;ENST00000398338;ENST00000315005;ENST00000525011	T;T;T	0.11169	2.8;2.8;2.8	3.94	3.94	0.45596	.	0.183972	0.25327	U	0.031462	T	0.29817	0.0745	M	0.73962	2.25	0.26725	N	0.970697	D;D;D;D	0.71674	0.994;0.998;0.989;0.998	P;D;P;D	0.71656	0.906;0.962;0.862;0.974	T	0.02437	-1.1159	10	0.59425	D	0.04	-9.6037	11.6941	0.51534	0.0:1.0:0.0:0.0	.	57;41;57;57	Q8NFT6-2;B4DHW6;Q8NFT6;Q8NFT6-4	.;.;DBF4B_HUMAN;.	M	57;57;57;57;41	ENSP00000377178:L57M;ENSP00000381381:L57M;ENSP00000323663:L57M	ENSP00000323663:L57M	L	+	1	2	DBF4B	40155860	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.100000	0.41777	2.208000	0.71279	0.555000	0.69702	CTG		0.502	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		72	317	1	0	1.356e-25	1	1.55723e-25	72	317					A	42800334	C	A	42800334	3	1	79	1	0	0	0	0	1	0	0	0	4260	912	32	3	179	3	DBF4B	17	42800334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163664	42800334	38394876	17367	27684											
DBF4B	80174	broad.mit.edu	37	chr17	42824842	42824842	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggatcattgctcagctcagCcacagctttgcagacatccc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42824842C>T	ENST00000315005.3	+	12	1161	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	DBF4B_ENST00000393547.2_Silent_p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	341					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTCAGCTCAGCCACAGCTTTG	0.602																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1021-1023)agC>agT		DBF4 homolog B (S. cerevisiae)							75	60	65					17																	42824842		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42824842C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1023C>T	17.37:g.42824842C>T						DBF4B_ENST00000393547.2_Silent_p.S341S	p.S341S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			12	1161	+		Prostate(33;0.0322)	341					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1023C>T	CCDS11485.1																																																																																				0.602	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		56	211	0	0	0	1	0	56	211					T	42824842	C	T	42824842	2	4	79	1	0	0	0	0	0	0	0	1	4260	738	26	2		2	DBF4B	17	42824842	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24508	42824842	38370368	17368	27685											
DBF4B	80174	broad.mit.edu	37	chr17	42828513	42828513	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtacccttgccttcccctcCtatctcaatgatcatgacct	4	16	2	2	rs538751427	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42828513C>A	ENST00000315005.3	+	14	1878	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	580					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTTCCCCTCCTATCTCAATG	0.562																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1738-1740)tcC>tcA		DBF4 homolog B (S. cerevisiae)							112	97	102					17																	42828513		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828513C>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1740C>A	17.37:g.42828513C>A						DBF4B_ENST00000393547.2_Intron	p.S580S	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1878	+		Prostate(33;0.0322)	580					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1740C>A	CCDS11485.1																																																																																				0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		112	562	1	0	3.42828e-54	1	4.27804e-54	112	562					A	42828513	C	A	42828513	2	1	79	1	0	0	0	0	0	0	0	1	4260	668	24	3		3	DBF4B	17	42828513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3671	42828513	38366697	17369	27686											
GJC1	10052	broad.mit.edu	37	chr17	42882639	42882639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctcaaacacggtccttgCcagcaactgcagcacataga	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42882639C>A	ENST00000426548.1	-	3	816	c.547G>T	c.(547-549)Gca>Tca	p.A183S	GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	183					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)				ACGGTCCTTGCCAGCAACTGC	0.483																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(547-549)Gca>Tca		gap junction protein, gamma 1, 45kDa							204	184	191					17																	42882639		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882639C>A	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.547G>T	17.37:g.42882639C>A	ENSP00000411528:p.Ala183Ser					GJC1_ENST00000330514.4_Missense_Mutation_p.A183S|GJC1_ENST00000592524.1_Missense_Mutation_p.A183S|GJC1_ENST00000590758.1_Missense_Mutation_p.A183S	p.A183S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	816	-		Prostate(33;0.0959)	183					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.547G>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	7.278	0.608452	0.14002	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97924	-4.61;-4.61	5.52	5.52	0.82312	.	0.237085	0.43747	D	0.000539	D	0.93301	0.7865	N	0.13043	0.29	0.31560	N	0.657666	B	0.09022	0.002	B	0.08055	0.003	D	0.90067	0.4160	10	0.30078	T	0.28	.	13.3967	0.60858	0.1572:0.8428:0.0:0.0	.	183	P36383	CXG1_HUMAN	S	183	ENSP00000411528:A183S;ENSP00000333193:A183S	ENSP00000333193:A183S	A	-	1	0	GJC1	40238165	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.994000	0.40757	2.581000	0.87130	0.514000	0.50259	GCA		0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		147	831	1	0	2.66858e-58	1	3.34646e-58	147	831					A	42882639	C	A	42882639	3	1	79	1	0	0	0	0	1	0	0	0	6443	739	26	3	647	3	GJC1	17	42882639	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54126	42882639	38312571	17370	27687											
EFTUD2	9343	broad.mit.edu	37	chr17	42932031	42932031	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcgtacttggtctggaAgaactctcccagcttcttcc	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42932031A>G	ENST00000426333.2	-	22	2449	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L	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	718					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)				TTGGTCTGGAAGAACTCTCCC	0.577																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2152-2154)Ttc>Ctc		elongation factor Tu GTP binding domain containing 2							72	68	70					17																	42932031		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42932031A>G	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.2152T>C	17.37:g.42932031A>G	ENSP00000392094:p.Phe718Leu					EFTUD2_ENST00000592576.1_Missense_Mutation_p.F708L|EFTUD2_ENST00000402521.3_Missense_Mutation_p.F683L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.F718L	p.F718L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			22	2449	-		Prostate(33;0.109)	718					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2152T>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.710728	0.68730	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.26373	1.74;1.74	5.14	5.14	0.70334	Ribosomal protein S5 domain 2-type fold (1);Translation elongation factor EFG/EF2, domain IV (2);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.19846	0.0477	N	0.17082	0.46	0.80722	D	1	B;B	0.27316	0.175;0.071	B;B	0.37304	0.246;0.107	T	0.07046	-1.0793	10	0.10636	T	0.68	-7.146	15.1331	0.72542	1.0:0.0:0.0:0.0	.	708;718	B4DMC0;Q15029	.;U5S1_HUMAN	L	718;708;683	ENSP00000392094:F718L;ENSP00000385873:F683L	ENSP00000262414:F708L	F	-	1	0	EFTUD2	40287557	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.097000	0.94193	2.178000	0.69098	0.533000	0.62120	TTC		0.577	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		45	294	0	0	0	1	0	45	294					G	42932031	A	G	42932031	3	3	79	1	0	0	0	0	1	0	0	0	4977	72	3	4	794	4	EFTUD2	17	42932031	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49392	42932031	38263179	17371	27688											
EFTUD2	9343	broad.mit.edu	37	chr17	42953350	42953350	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcgcagcttgtaataaGcatcagttggaggcagcttc	13	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42953350G>T	ENST00000426333.2	-	10	1118	c.821C>A	c.(820-822)gCt>gAt	p.A274D	EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D	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	274	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)				CTTGTAATAAGCATCAGTTGG	0.517																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(820-822)gCt>gAt		elongation factor Tu GTP binding domain containing 2							197	181	186					17																	42953350		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42953350G>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.821C>A	17.37:g.42953350G>T	ENSP00000392094:p.Ala274Asp					EFTUD2_ENST00000592576.1_Missense_Mutation_p.A264D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A239D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A274D	p.A274D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			10	1118	-		Prostate(33;0.109)	274					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.821C>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534336	0.64972	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72051	-0.62;-0.62	4.96	4.96	0.65561	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.90137	0.6918	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93564	0.6898	10	0.87932	D	0	-16.834	18.401	0.90516	0.0:0.0:1.0:0.0	.	264;274	B4DMC0;Q15029	.;U5S1_HUMAN	D	274;264;239	ENSP00000392094:A274D;ENSP00000385873:A239D	ENSP00000262414:A264D	A	-	2	0	EFTUD2	40308876	1.000000	0.71417	0.489000	0.27452	0.098000	0.18820	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCT		0.517	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		191	905	1	0	7.03087e-97	1	9.03877e-97	191	905					T	42953350	G	T	42953350	3	4	79	1	0	0	0	0	1	0	0	0	4977	971	34	3	2173	3	EFTUD2	17	42953350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21319	42953350	38241860	17372	27689											
EFTUD2	9343	broad.mit.edu	37	chr17	42957999	42957999	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacaggagtgcttttgAtgcctacacctctctgaaag	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42957999A>G	ENST00000426333.2	-	8	839	c.542T>C	c.(541-543)aTc>aCc	p.I181T	EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T|EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T	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	181	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)				AGTGCTTTTGATGCCTACACC	0.443																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(541-543)aTc>aCc		elongation factor Tu GTP binding domain containing 2							154	145	148					17																	42957999		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42957999A>G	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.542T>C	17.37:g.42957999A>G	ENSP00000392094:p.Ile181Thr					EFTUD2_ENST00000592576.1_Missense_Mutation_p.I171T|EFTUD2_ENST00000402521.3_Missense_Mutation_p.I146T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.I181T	p.I181T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			8	839	-		Prostate(33;0.109)	181					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.542T>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196402	0.78902	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.77098	-1.07;-1.07	5.23	5.23	0.72850	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.044203	0.85682	D	0.000000	D	0.86920	0.6049	M	0.88512	2.96	0.80722	D	1	P;P	0.35944	0.529;0.529	P;P	0.48524	0.58;0.58	D	0.88626	0.3166	10	0.66056	D	0.02	-1.4112	15.2882	0.73846	1.0:0.0:0.0:0.0	.	171;181	B4DMC0;Q15029	.;U5S1_HUMAN	T	181;171;146	ENSP00000392094:I181T;ENSP00000385873:I146T	ENSP00000262414:I171T	I	-	2	0	EFTUD2	40313525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.777000	0.91781	2.191000	0.70037	0.482000	0.46254	ATC		0.443	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		70	259	0	0	0	1	0	70	259					G	42957999	A	G	42957999	3	3	79	1	0	0	0	0	1	0	0	0	4977	333	12	4	2460	4	EFTUD2	17	42957999	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4649	42957999	38237211	17373	27690											
EFTUD2	9343	broad.mit.edu	37	chr17	42971886	42971886	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcatcatataagtcggtatCcatgatgctaaaattcaagg	7	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42971886C>A	ENST00000426333.2	-	2	301	c.4G>T	c.(4-6)Gat>Tat	p.D2Y	EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000589211.1_5'Flank	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	2					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)				AAGTCGGTATCCATGATGCTA	0.403																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(4-6)Gat>Tat		elongation factor Tu GTP binding domain containing 2							127	116	120					17																	42971886		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42971886C>A	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.4G>T	17.37:g.42971886C>A	ENSP00000392094:p.Asp2Tyr					EFTUD2_ENST00000592576.1_Missense_Mutation_p.D2Y|EFTUD2_ENST00000402521.3_Intron|EFTUD2_ENST00000591382.1_Missense_Mutation_p.D2Y	p.D2Y	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			2	301	-		Prostate(33;0.109)	2					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.4G>T	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328628	0.81690	.	.	ENSG00000108883	ENST00000426333;ENST00000262414	T	0.75704	-0.96	5.24	5.24	0.73138	.	0.054873	0.64402	D	0.000001	D	0.87799	0.6268	M	0.91038	3.17	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61003	0.882;0.882	D	0.90647	0.4579	10	0.87932	D	0	-18.5418	16.6401	0.85069	0.0:1.0:0.0:0.0	.	2;2	B4DMC0;Q15029	.;U5S1_HUMAN	Y	2	ENSP00000392094:D2Y	ENSP00000262414:D2Y	D	-	1	0	EFTUD2	40327412	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.925000	0.75829	2.450000	0.82876	0.555000	0.69702	GAT		0.403	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		18	562	1	0	1.67942e-08	1	1.75525e-08	18	562					A	42971886	C	A	42971886	3	1	79	1	0	0	0	0	1	0	0	0	4977	855	30	3	3022	3	EFTUD2	17	42971886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13887	42971886	38223324	17374	27691											
GFAP	2670	broad.mit.edu	37	chr17	42985496	42985496	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaggtggccttctgacacaGacttggtgtccaggctggtt	14	9	1	3	rs267607508		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42985496G>T	ENST00000253408.5	-	8	1258	c.1193C>A	c.(1192-1194)tCt>tAt	p.S398Y	GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	398	Tail.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.S398C(1)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTCTGACACAGACTTGGTGTC	0.592																																						ENST00000253408.5																			1	Substitution - Missense(1)	p.S398C(1)	urinary_tract(1)	endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23	GRCh37	CM083521	GFAP	M		c.(1192-1194)tCt>tAt		glial fibrillary acidic protein							206	170	182					17																	42985496		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42985496G>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1193C>A	17.37:g.42985496G>T	ENSP00000253408:p.Ser398Tyr					GFAP_ENST00000588735.1_Intron	p.S398Y	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			8	1258	-		Prostate(33;0.0959)	398			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1193C>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715042	0.68844	.	.	ENSG00000131095	ENST00000253408;ENST00000421021	D	0.97811	-4.55	5.23	5.23	0.72850	.	0.742362	0.13157	N	0.409394	D	0.95856	0.8651	L	0.27053	0.805	0.80722	D	1	P	0.45672	0.864	P	0.44597	0.454	D	0.94770	0.7944	10	0.38643	T	0.18	.	18.9902	0.92788	0.0:0.0:1.0:0.0	.	398	P14136	GFAP_HUMAN	Y	398;373	ENSP00000253408:S398Y	ENSP00000253408:S398Y	S	-	2	0	GFAP	40341022	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	7.074000	0.76791	2.735000	0.93741	0.549000	0.68633	TCT		0.592	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		34	686	1	0	3.76114e-14	1	4.07806e-14	34	686					T	42985496	G	T	42985496	3	4	79	1	0	0	0	0	1	0	0	0	6366	942	33	3	113	3	GFAP	17	42985496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13610	42985496	38209714	17375	27692											
GFAP	2670	broad.mit.edu	37	chr17	42990750	42990750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggcttggccacgtcaagctCcacatggacctgctgtcggg	13	13	1	0	rs56679084	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42990750C>T	ENST00000253408.5	-	4	732	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000435360.2_Missense_Mutation_p.E223K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	223	Linker 12.|Rod.		E -> Q (in dbSNP:rs56679084). {ECO:0000269|PubMed:12944715, ECO:0000269|PubMed:15732097}.		astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGTCAAGCTCCACATGGACC	0.612																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23	GRCh37	CM034656	GFAP	M	rs56679084	c.(667-669)Gag>Aag		glial fibrillary acidic protein							81	64	70					17																	42990750		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42990750C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.667G>A	17.37:g.42990750C>T	ENSP00000253408:p.Glu223Lys					GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.E223K|GFAP_ENST00000435360.2_Missense_Mutation_p.E223K	p.E223K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			4	732	-		Prostate(33;0.0959)	223		E -> Q (in ALEXD; adult form; dbSNP:rs56679084).	Linker 12.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.667G>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036126	0.75617	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.92495	-3.05;-3.05	4.93	4.93	0.64822	Filament (1);	0.058017	0.64402	D	0.000002	D	0.94823	0.8328	M	0.73319	2.225	0.58432	D	0.999992	D;D	0.56968	0.978;0.972	P;D	0.62955	0.829;0.909	D	0.92488	0.5998	10	0.20046	T	0.44	.	18.3229	0.90244	0.0:1.0:0.0:0.0	.	223;223	E9PAX3;P14136	.;GFAP_HUMAN	K	223;198;223	ENSP00000253408:E223K;ENSP00000403962:E223K	ENSP00000253408:E223K	E	-	1	0	GFAP	40346276	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	7.651000	0.83577	2.746000	0.94184	0.655000	0.94253	GAG		0.612	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		76	299	0	0	0	1	0	76	299					T	42990750	C	T	42990750	3	4	79	1	0	0	0	0	1	0	0	0	6366	864	30	2	784	2	GFAP	17	42990750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5254	42990750	38204460	17376	27693											
GFAP	2670	broad.mit.edu	37	chr17	42992761	42992761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggcgggtgccaggacCcagacggcggccaggagcca	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42992761C>T	ENST00000253408.5	-	1	159	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.G32S|GFAP_ENST00000435360.2_Missense_Mutation_p.G32S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	32	Head.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCAGGACCCAGACGGCGG	0.672																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(94-96)Ggt>Agt		glial fibrillary acidic protein							15	20	19					17																	42992761		2201	4298	6499	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992761C>T	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"Intermediate filaments type III"	4235	protein-coding gene	gene with protein product	"intermediate filament protein"	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.94G>A	17.37:g.42992761C>T	ENSP00000253408:p.Gly32Ser					GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.G32S|GFAP_ENST00000435360.2_Missense_Mutation_p.G32S	p.G32S	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			1	159	-		Prostate(33;0.0959)	32			Head.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.94G>A	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439931	0.43326	.	.	ENSG00000131095	ENST00000253408;ENST00000435360;ENST00000376990	D;D;T	0.86030	-2.06;-2.01;-1.42	4.82	3.85	0.44370	.	0.358527	0.29565	N	0.011784	T	0.72622	0.3483	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.13594	0.008;0.001	B;B	0.12837	0.008;0.001	T	0.61143	-0.7122	10	0.38643	T	0.18	.	8.3497	0.32295	0.0:0.758:0.1563:0.0857	.	32;32	E9PAX3;P14136	.;GFAP_HUMAN	S	32	ENSP00000253408:G32S;ENSP00000403962:G32S;ENSP00000366189:G32S	ENSP00000253408:G32S	G	-	1	0	GFAP	40348287	0.002000	0.14202	0.072000	0.20136	0.884000	0.51177	1.437000	0.34991	1.401000	0.46761	0.561000	0.74099	GGT		0.672	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		21	145	0	0	0	1	0	21	145					T	42992761	C	T	42992761	3	4	79	1	0	0	0	0	1	0	0	0	6366	623	22	2	1369	2	GFAP	17	42992761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2011	42992761	38202449	17377	27694											
KIF18B	146909	broad.mit.edu	37	chr17	43005605	43005605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgactgtggctgggcaaaCgcgaggggaatggcaggggg	21	6	0	1	rs200544188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43005605C>T	ENST00000593135.1	-	13	2162	c.2065G>A	c.(2065-2067)Gtt>Att	p.V689I	KIF18B_ENST00000587309.1_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I|KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	701					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)				GCTGGGCAAACGCGAGGGGAA	0.652													c|||	2	0.000399361	0.0008	0.0	5008	,	,		16019	0.0		0.001	False		,,,				2504	0.0					ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(2101-2103)Gtt>Att		kinesin family member 18B		C	ILE/VAL	8,4022		0,8,2007	27	32	30		2074	-4.4	0	17		30	0,8318		0,0,4159	yes	missense	KIF18B	NM_001080443.1	29	0,8,6166	TT,TC,CC		0.0,0.1985,0.0648	benign	692/856	43005605	8,12340	2015	4159	6174	SO:0001583	missense	146909							g.chr17:43005605C>T		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.2065G>A	17.37:g.43005605C>T	ENSP00000465992:p.Val689Ile					KIF18B_ENST00000438933.2_Missense_Mutation_p.V701I|KIF18B_ENST00000339151.4_Missense_Mutation_p.V692I|KIF18B_ENST00000593135.1_Missense_Mutation_p.V689I|KIF18B_ENST00000590129.1_Missense_Mutation_p.V710I	p.V701I	NM_001264573.1	NP_001251503.1					13	2124	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.2101G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516827	0.00151	0.001985	0.0	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.71579	-0.58;-0.58	4.39	-4.36	0.03645	.	.	.	.	.	T	0.39989	0.1099	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.31641	-0.9936	9	0.08179	T	0.78	.	3.1988	0.06643	0.1292:0.4607:0.1946:0.2155	.	701;698;710	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	I	701;692;701	ENSP00000412798:V701I;ENSP00000341466:V692I	ENSP00000341466:V692I	V	-	1	0	KIF18B	40361131	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.120000	0.03273	-0.762000	0.04664	-1.486000	0.00981	GTT		0.652	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		6	170	0	0	0	1	0	6	170					T	43005605	C	T	43005605	3	4	79	1	0	0	0	0	1	0	0	0	8311	536	19	1	508	1	KIF18B	17	43005605	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12844	43005605	38189605	17378	27695											
KIF18B	146909	broad.mit.edu	37	chr17	43013546	43013546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttggggccatcatgggtgCcaccccatttcaggccaggg	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013546C>T	ENST00000593135.1	-	2	264	c.167G>A	c.(166-168)gGc>gAc	p.G56D	KIF18B_ENST00000587309.1_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D|KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D|KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	65	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)				ATCATGGGTGCCACCCCATTT	0.617																																						ENST00000587309.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21						c.(166-168)gGc>gAc		kinesin family member 18B							25	29	28					17																	43013546		2018	4170	6188	SO:0001583	missense	146909							g.chr17:43013546C>T		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.167G>A	17.37:g.43013546C>T	ENSP00000465992:p.Gly56Asp					KIF18B_ENST00000438933.2_Missense_Mutation_p.G56D|KIF18B_ENST00000339151.4_Missense_Mutation_p.G56D|KIF18B_ENST00000593135.1_Missense_Mutation_p.G56D|KIF18B_ENST00000590129.1_Missense_Mutation_p.G65D	p.G56D	NM_001264573.1	NP_001251503.1					2	190	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.167G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105267	0.20632	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74737	-0.87;-0.87	5.46	4.48	0.54585	Kinesin, motor domain (4);	0.883608	0.09370	N	0.811513	T	0.63815	0.2543	L	0.39514	1.22	0.09310	N	1	B;B;B	0.27013	0.166;0.137;0.137	B;B;B	0.29440	0.102;0.062;0.062	T	0.51608	-0.8684	10	0.12430	T	0.62	.	7.3631	0.26758	0.1691:0.7461:0.0:0.0847	.	65;65;65	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	D	56	ENSP00000412798:G56D;ENSP00000341466:G56D	ENSP00000341466:G56D	G	-	2	0	KIF18B	40369072	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.144000	0.10280	1.428000	0.47296	0.555000	0.69702	GGC		0.617	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		25	98	0	0	0	1	0	25	98					T	43013546	C	T	43013546	3	4	79	1	0	0	0	0	1	0	0	0	8311	739	26	2	2459	2	KIF18B	17	43013546	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7941	43013546	38181664	17379	27696											
NMT1	4836	broad.mit.edu	37	chr17	43181223	43181223	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctagacctcatgagcgaCgcccttgtcctcgccaaaat	7	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43181223C>T	ENST00000592782.1	+	11	1442	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_ENST00000258960.2_Silent_p.D437D			P30419	NMT1_HUMAN	N-myristoyltransferase 1	437					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCATGAGCGACGCCCTTGTCC	0.567																																						ENST00000592782.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8						c.(1309-1311)gaC>gaT		N-myristoyltransferase 1							226	220	222					17																	43181223		2203	4300	6503	SO:0001819	synonymous_variant	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43181223C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1311C>T	17.37:g.43181223C>T						NMT1_ENST00000258960.2_Silent_p.D437D	p.D437D			P30419	NMT1_HUMAN			11	1442	+		Prostate(33;0.155)	437					A8K7C1|Q9UE09	Silent	SNP	ENST00000592782.1	37	c.1311C>T	CCDS11494.1																																																																																				0.567	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		265	1100	0	0	0	1	0	265	1100					T	43181223	C	T	43181223	2	4	79	1	0	0	0	0	0	0	0	1	10545	535	19	1		1	NMT1	17	43181223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	167677	43181223	38013987	17380	27697											
HEXIM1	10614	broad.mit.edu	37	chr17	43227267	43227267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccaaatccgacgacaccaGcgatgacgacttcatggaag	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43227267G>T	ENST00000332499.2	+	1	2584	c.710G>T	c.(709-711)aGc>aTc	p.S237I	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	237	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCAGCGATGACGAC	0.617																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(709-711)aGc>aTc		hexamethylene bis-acetamide inducible 1							37	41	40					17																	43227267		2202	4299	6501	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227267G>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.710G>T	17.37:g.43227267G>T	ENSP00000328773:p.Ser237Ile						p.S237I	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2584	+			237			Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.710G>T	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925625	0.73213	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.74	4.74	0.60224	.	0.217998	0.45606	D	0.000351	T	0.62636	0.2444	M	0.77616	2.38	0.44771	D	0.997773	P	0.51933	0.949	P	0.46110	0.504	T	0.69752	-0.5060	9	0.66056	D	0.02	-16.1972	12.2268	0.54465	0.0:0.1719:0.828:0.0	.	237	O94992	HEXI1_HUMAN	I	237	.	ENSP00000328773:S237I	S	+	2	0	HEXIM1	40583050	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.187000	0.69744	0.561000	0.74099	AGC		0.617	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		67	367	1	0	1.64573e-32	1	1.94376e-32	67	367					T	43227267	G	T	43227267	3	4	79	1	0	0	0	0	1	0	0	0	7106	971	34	3	712	3	HEXIM1	17	43227267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46044	43227267	37967943	17381	27698											
FMNL1	752	broad.mit.edu	37	chr17	43311026	43311026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacaggtgggtgcaggAgttcctcaatgaagagaacc	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43311026A>G	ENST00000331495.3	+	5	749	c.413A>G	c.(412-414)gAg>gGg	p.E138G	FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	138	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGTGCAGGAGTTCCTCAAT	0.627																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(412-414)gAg>gGg		formin-like 1							143	127	132					17																	43311026		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43311026A>G	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.413A>G	17.37:g.43311026A>G	ENSP00000329219:p.Glu138Gly					FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.E138G	p.E138G	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			5	749	+			138			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.413A>G	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594788	0.66219	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.88818	-2.43;-2.43	5.14	5.14	0.70334	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.054446	0.64402	D	0.000001	D	0.95162	0.8432	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95901	0.8915	10	0.72032	D	0.01	.	13.7986	0.63186	1.0:0.0:0.0:0.0	.	138;138	O95466-2;O95466	.;FMNL_HUMAN	G	138	ENSP00000327442:E138G;ENSP00000329219:E138G	ENSP00000327442:E138G	E	+	2	0	FMNL1	40666809	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.362000	0.79507	1.946000	0.56461	0.459000	0.35465	GAG		0.627	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		46	257	0	0	0	1	0	46	257					G	43311026	A	G	43311026	3	3	79	1	0	0	0	0	1	0	0	0	5976	304	11	4	431	4	FMNL1	17	43311026	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83759	43311026	37884184	17382	27699											
MAP3K14	100133991	broad.mit.edu	37	chr17	43342620	43342620	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattaagagactgtatttgGactttcacacctagaaggcg	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43342620G>A	ENST00000585780.1	+	0	1615				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA					MAP3K14 antisense RNA 1																		ACTGTATTTGGACTTTCACAC	0.577																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							68	69	69					17																	43342620		1989	4168	6157			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43342620G>A	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.43342620G>A						MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA				Q99558	M3K14_HUMAN			0	2694	-									RNA	SNP	ENST00000585780.1	37																																																																																						0.577	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		64	353	0	0	0	1	0	64	353					A	43342620	G	A	43342620	1	1	79	0	1	0	0	0	0	0	0	0	9289	1161	41	2		2	MAP3K14	17	43342620	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31594	43342620	37852590	17383	27700											
MAP3K14	9020	broad.mit.edu	37	chr17	43364233	43364233	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtggtgcagtttccaCacgtggttcagacattgcaa	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43364233C>T	ENST00000344686.2	-	0	822							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCAGTTTCCACACGTGGTTCA	0.612																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							30	33	32					17																	43364233		1935	4121	6056			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43364233C>T	Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6853	protein-coding gene	gene with protein product	"serine/threonine protein-kinase"	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43364233C>T										Q99558	M3K14_HUMAN			0	822	-								A8K2D8|D3DX67|Q8IYN1	RNA	SNP	ENST00000344686.2	37																																																																																						0.612	MAP3K14-201	KNOWN	basic	processed_transcript	processed_transcript		NM_003954		5	214	0	0	0	1	0	5	214					T	43364233	C	T	43364233	1	4	79	0	1	0	0	0	0	0	0	0	9289	478	17	2		2	MAP3K14	17	43364233	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21613	43364233	37830977	17384	27701											
ARHGAP27	201176	broad.mit.edu	37	chr17	43482416	43482416	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagcccacgggagaataGtcctcctcggggtaactggt	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43482416G>A	ENST00000428638.1	-	3	1121	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000532038.1_Silent_p.D174D|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000376922.2_Silent_p.D33D|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000532891.2_Silent_p.D374D			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	374					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGGGAGAATAGTCCTCCTCGG	0.627																																						ENST00000532038.1																			0				endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17						c.(520-522)gaC>gaT		Rho GTPase activating protein 27							46	48	47					17																	43482416		2203	4300	6503	SO:0001819	synonymous_variant	201176				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding	g.chr17:43482416G>A	AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	31813	protein-coding gene	gene with protein product		610591	"SH3 domain containing 20"	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1122C>T	17.37:g.43482416G>A						ARHGAP27_ENST00000532891.2_Silent_p.D374D|ARHGAP27_ENST00000428638.1_Silent_p.D374D|ARHGAP27_ENST00000528384.1_Silent_p.D33D|ARHGAP27_ENST00000455881.1_Silent_p.D33D|ARHGAP27_ENST00000442348.1_Silent_p.D374D|ARHGAP27_ENST00000376922.2_Silent_p.D33D	p.D174D			Q6ZUM4	RHG27_HUMAN			3	657	-	Renal(3;0.0405)		374					A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	ENST00000428638.1	37	c.522C>T																																																																																					0.627	ARHGAP27-202	KNOWN	basic	protein_coding	protein_coding		NM_199282		55	222	0	0	0	1	0	55	222					A	43482416	G	A	43482416	2	1	79	1	0	0	0	0	0	0	0	1	876	1020	36	2		2	ARHGAP27	17	43482416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118183	43482416	37712794	17385	27702											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531235	43531235	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagggccgcgggctccgaGagcaggtctgagggagagag	21	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43531235G>A	ENST00000430334.3	-	7	2116	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L572L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	661					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGGCTCCGAGAGCAGGTCTG	0.647																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1981-1983)ctC>ctT		pleckstrin homology domain containing, family M (with RUN domain) member 1							34	40	38					17																	43531235		2201	4297	6498	SO:0001819	synonymous_variant	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43531235G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1983C>T	17.37:g.43531235G>A						AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.L572L	p.L661L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			7	2116	-	Renal(3;0.0405)		661					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	ENST00000430334.3	37	c.1983C>T	CCDS32671.1																																																																																				0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		94	406	0	0	0	1	0	94	406					A	43531235	G	A	43531235	2	1	79	1	0	0	0	0	0	0	0	1	12122	929	33	2		2	PLEKHM1	17	43531235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48819	43531235	37663975	17386	27703											
IMP5	162540	broad.mit.edu	37	chr17	43923407	43923407	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaactgctcctccttcCtgctggccctgctggccttt	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923407C>T	ENST00000329196.5	+	1	1152	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	379						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)										CTCCTCCTTCCTGCTGGCCCT	0.607																																						ENST00000329196.5																			0											c.(1135-1137)Ctg>Ttg		signal peptide peptidase like 2C							71	71	71					17																	43923407		2203	4300	6503	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923407C>T		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.1135C>T	17.37:g.43923407C>T						MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.L379L	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	1152	+			379					Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.1135C>T	CCDS32673.1																																																																																				0.607	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		52	213	0	0	0	1	0	52	213					T	43923407	C	T	43923407	2	4	79	1	0	0	0	0	0	0	0	1	7751	680	24	2		2	IMP5	17	43923407	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	392172	43923407	37271803	17387	27704											
IMP5	162540	broad.mit.edu	37	chr17	43923646	43923646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcttcctggttgcttaCtgttgccgctttgatgtgca	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923646C>T	ENST00000329196.5	+	1	1391	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	458						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)										TGGTTGCTTACTGTTGCCGCT	0.592																																						ENST00000329196.5																			0											c.(1372-1374)taC>taT		signal peptide peptidase like 2C							152	117	129					17																	43923646		2203	4300	6503	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923646C>T		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.1374C>T	17.37:g.43923646C>T						MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	p.Y458Y	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	1391	+			458					Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.1374C>T	CCDS32673.1																																																																																				0.592	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		88	427	0	0	0	1	0	88	427					T	43923646	C	T	43923646	2	4	79	1	0	0	0	0	0	0	0	1	7751	576	20	2		2	IMP5	17	43923646	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	43923646	37271564	17388	27705											
MAPT	4137	broad.mit.edu	37	chr17	44051802	44051802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccggcaagcaggctgccgCgcagccccacacggagatcc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44051802C>T	ENST00000571987.1	+	3	272	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000344290.5_Missense_Mutation_p.A91V|MAPT_ENST00000574436.1_Missense_Mutation_p.A91V			P10636	TAU_HUMAN	microtubule-associated protein tau	91					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)	CAGGCTGCCGCGCAGCCCCAC	0.637																																						ENST00000344290.5																			0				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						c.(271-273)gCg>gTg		microtubule-associated protein tau							27	24	25					17																	44051802		2201	4299	6500	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44051802C>T	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.272C>T	17.37:g.44051802C>T	ENSP00000458742:p.Ala91Val					MAPT_ENST00000574436.1_Missense_Mutation_p.A91V|MAPT_ENST00000431008.3_Missense_Mutation_p.A91V|MAPT_ENST00000571987.1_Missense_Mutation_p.A91V|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.A91V|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000415613.2_Missense_Mutation_p.A91V|MAPT_ENST00000351559.5_Missense_Mutation_p.A91V|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A91V	p.A91V	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			4	594	+		Melanoma(429;0.216)	91					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.272C>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574214	0.86542	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000535772;ENST00000415613	T;T;T;T;T	0.28255	2.56;2.56;1.62;1.69;2.56	5.39	5.39	0.77823	.	0.000000	0.39407	N	0.001378	T	0.47563	0.1452	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.944;0.955	T	0.19031	-1.0318	10	0.27082	T	0.32	-15.5257	14.651	0.68797	0.0:1.0:0.0:0.0	.	91;91;91	P10636-9;P10636-8;P10636	.;.;TAU_HUMAN	V	91	ENSP00000340820:A91V;ENSP00000262410:A91V;ENSP00000303214:A91V;ENSP00000443028:A91V;ENSP00000410838:A91V	ENSP00000262410:A91V	A	+	2	0	MAPT	41407638	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.944000	0.56629	2.556000	0.86216	0.561000	0.74099	GCG		0.637	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		13	75	0	0	0	1	0	13	75					T	44051802	C	T	44051802	3	4	79	1	0	0	0	0	1	0	0	0	9338	768	27	1	282	1	MAPT	17	44051802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128156	44051802	37143408	17389	27706											
MAPT	4137	broad.mit.edu	37	chr17	44060851	44060851	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgcgacgtcgatgagtcCtccccccaagactcccctcc	8	20	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44060851C>A	ENST00000571987.1	+	5	681	c.681C>A	c.(679-681)tcC>tcA	p.S227S	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000415613.2_Silent_p.S227S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Silent_p.S227S|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Silent_p.S227S|MAPT_ENST00000574436.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	227					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)	TCGATGAGTCCTCCCCCCAAG	0.687																																						ENST00000344290.5																			0				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						c.(679-681)tcC>tcA		microtubule-associated protein tau							36	23	27					17																	44060851		2199	4289	6488	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060851C>A	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.681C>A	17.37:g.44060851C>A						MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Silent_p.S227S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Silent_p.S227S|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.S227S	p.S227S	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	1003	+		Melanoma(429;0.216)	227					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.681C>A	CCDS11501.1																																																																																				0.687	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		22	127	1	0	1.22574e-08	1	1.28258e-08	22	127					A	44060851	C	A	44060851	2	1	79	1	0	0	0	0	0	0	0	1	9338	668	24	3		3	MAPT	17	44060851	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9049	44060851	37134359	17390	27707											
STH	246744	broad.mit.edu	37	chr17	44076881	44076881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catttggcccagttcttacaGctctgaagagagcagcagga	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44076881G>A	ENST00000537309.1	+	1	266	c.236G>A	c.(235-237)aGc>aAc	p.S79N	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000574436.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	79						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGTTCTTACAGCTCTGAAGAG	0.557																																						ENST00000537309.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(235-237)aGc>aAc		saitohin							77	77	77					17																	44076881		1926	4151	6077	SO:0001583	missense	246744					cytoplasm|nucleus		g.chr17:44076881G>A	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"microtubule-associated protein tau (MAPT) intronic transcript"	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.236G>A	17.37:g.44076881G>A	ENSP00000443168:p.Ser79Asn					MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Intron	p.S79N	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN			1	266	+			79					A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	c.236G>A	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	8.547	0.874519	0.17395	.	.	ENSG00000256762	ENST00000537309	T	0.54675	0.56	2.89	0.75	0.18387	.	.	.	.	.	T	0.29190	0.0726	N	0.08118	0	0.09310	N	1	P	0.40332	0.713	B	0.40410	0.328	T	0.16158	-1.0412	9	0.87932	D	0	.	2.9961	0.05998	0.158:0.0:0.5773:0.2646	.	79	Q8IWL8	STH_HUMAN	N	79	ENSP00000443168:S79N	ENSP00000443168:S79N	S	+	2	0	STH	41432718	0.007000	0.16637	0.001000	0.08648	0.029000	0.11900	0.605000	0.24179	0.240000	0.21263	0.561000	0.74099	AGC		0.557	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1			36	117	0	0	0	1	0	36	117					A	44076881	G	A	44076881	3	1	79	1	0	0	0	0	1	0	0	0	15333	971	34	2	238	2	STH	17	44076881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16030	44076881	37118329	17391	27708											
KIAA1267	284058	broad.mit.edu	37	chr17	44108915	44108915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagggggacaatgggaggcGaggtgggcgctgcctctgtc	20	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108915G>A	ENST00000262419.6	-	15	3715	c.3245C>T	c.(3244-3246)tCg>tTg	p.S1082L	KANSL1_ENST00000393476.3_Missense_Mutation_p.S376L|KANSL1_ENST00000574590.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000432791.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000572904.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000575318.1_Missense_Mutation_p.S1018L	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1082	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AATGGGAGGCGAGGTGGGCGC	0.642																																						ENST00000262419.6																			0											c.(3244-3246)tCg>tTg		KAT8 regulatory NSL complex subunit 1							31	28	29					17																	44108915		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44108915G>A	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.3245C>T	17.37:g.44108915G>A	ENSP00000262419:p.Ser1082Leu					KANSL1_ENST00000393476.3_Missense_Mutation_p.S376L|KANSL1_ENST00000432791.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000575318.1_Missense_Mutation_p.S1018L|KANSL1_ENST00000574590.1_Missense_Mutation_p.S1082L|KANSL1_ENST00000572904.1_Missense_Mutation_p.S1082L	p.S1082L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			15	3715	-			1082					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.3245C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658927	0.67586	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.36340	2.09;2.09;1.26	5.72	4.74	0.60224	.	0.157171	0.42964	D	0.000640	T	0.44993	0.1320	L	0.27053	0.805	0.41849	D	0.990164	B;B;D;D	0.71674	0.002;0.002;0.998;0.998	B;B;D;D	0.72982	0.002;0.002;0.979;0.979	T	0.44034	-0.9354	10	0.54805	T	0.06	-3.2033	12.071	0.53616	0.0811:0.0:0.9189:0.0	.	350;413;1082;1082	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	L	1082;1082;376	ENSP00000262419:S1082L;ENSP00000387393:S1082L;ENSP00000377117:S376L	ENSP00000262419:S1082L	S	-	2	0	KIAA1267	41464762	0.974000	0.33945	0.935000	0.37517	0.682000	0.39822	2.195000	0.42677	1.401000	0.46761	0.561000	0.74099	TCG		0.642	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		39	163	0	0	0	1	0	39	163					A	44108915	G	A	44108915	3	1	79	1	0	0	0	0	1	0	0	0	8249	1059	37	1	76	1	KIAA1267	17	44108915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32034	44108915	37086295	17392	27709											
KIAA1267	284058	broad.mit.edu	37	chr17	44108967	44108967	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgctgcctgaggtgcgtcGagtgcagcgggctgctcgct	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108967G>A	ENST00000262419.6	-	15	3663	c.3193C>T	c.(3193-3195)Cga>Tga	p.R1065*	KANSL1_ENST00000393476.3_Nonsense_Mutation_p.R359*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.R1001*	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1065	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GAGGTGCGTCGAGTGCAGCGG	0.687																																						ENST00000262419.6																			0											c.(3193-3195)Cga>Tga		KAT8 regulatory NSL complex subunit 1							37	33	34					17																	44108967		2203	4298	6501	SO:0001587	stop_gained	284058					MLL1 complex	protein binding	g.chr17:44108967G>A	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.3193C>T	17.37:g.44108967G>A	ENSP00000262419:p.Arg1065*					KANSL1_ENST00000393476.3_Nonsense_Mutation_p.R359*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.R1001*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.R1065*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.R1065*	p.R1065*	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			15	3663	-			1065					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Nonsense_Mutation	SNP	ENST00000262419.6	37	c.3193C>T	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	G	54	22.730023	0.99950	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	5.54	5.54	0.83059	.	0.071575	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0141	18.0627	0.89382	0.0:0.0:1.0:0.0	.	.	.	.	X	1065;1065;359	.	ENSP00000262419:R1065X	R	-	1	2	KIAA1267	41464814	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.158000	0.77470	2.604000	0.88044	0.561000	0.74099	CGA		0.687	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		43	192	0	0	0	1	0	43	192					A	44108967	G	A	44108967	4	1	79	1	0	0	0	0	0	1	0	0	8249	1066	37	1	128	1	KIAA1267	17	44108967	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	44108967	37086243	17393	27710											
KIAA1267	284058	broad.mit.edu	37	chr17	44110540	44110540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagggcggcgaaggctgCgtcggataggtcctcaatct	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44110540C>T	ENST00000262419.6	-	13	3213	c.2743G>A	c.(2743-2745)Gca>Aca	p.A915T	KANSL1_ENST00000393476.3_Missense_Mutation_p.A209T|KANSL1_ENST00000574590.1_Missense_Mutation_p.A915T|KANSL1_ENST00000432791.1_Missense_Mutation_p.A915T|RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000572904.1_Missense_Mutation_p.A915T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A851T	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	915	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCGAAGGCTGCGTCGGATAGG	0.592																																						ENST00000262419.6																			0											c.(2743-2745)Gca>Aca		KAT8 regulatory NSL complex subunit 1							63	62	62					17																	44110540		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44110540C>T	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.2743G>A	17.37:g.44110540C>T	ENSP00000262419:p.Ala915Thr					KANSL1_ENST00000393476.3_Missense_Mutation_p.A209T|KANSL1_ENST00000432791.1_Missense_Mutation_p.A915T|KANSL1_ENST00000575318.1_Missense_Mutation_p.A851T|KANSL1_ENST00000574590.1_Missense_Mutation_p.A915T|KANSL1_ENST00000572904.1_Missense_Mutation_p.A915T	p.A915T	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			13	3213	-			915					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.2743G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504783	0.64410	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.50813	0.73;0.73;0.73	6.17	6.17	0.99709	.	0.048575	0.85682	D	0.000000	T	0.38188	0.1031	L	0.34521	1.04	0.49051	D	0.999743	P;P;P;P	0.52170	0.951;0.588;0.588;0.931	B;B;B;B	0.42062	0.371;0.216;0.294;0.374	T	0.08146	-1.0736	10	0.22109	T	0.4	-11.3671	15.1108	0.72355	0.142:0.858:0.0:0.0	.	183;246;915;915	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	T	915;915;209	ENSP00000262419:A915T;ENSP00000387393:A915T;ENSP00000377117:A209T	ENSP00000262419:A915T	A	-	1	0	KIAA1267	41466387	0.998000	0.40836	0.996000	0.52242	0.234000	0.25298	3.888000	0.56204	2.941000	0.99782	0.655000	0.94253	GCA		0.592	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		15	45	0	0	0	1	0	15	45					T	44110540	C	T	44110540	3	4	79	1	0	0	0	0	1	0	0	0	8249	768	27	1	586	1	KIAA1267	17	44110540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1573	44110540	37084670	17394	27711											
KIAA1267	284058	broad.mit.edu	37	chr17	44143920	44143920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccttcttggaaagaggaaCgatgctgttgggtcgaacaa	13	7	1	1	rs202150313		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44143920C>T	ENST00000262419.6	-	6	2301	c.1831G>A	c.(1831-1833)Gtt>Att	p.V611I	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.V611I|KANSL1_ENST00000432791.1_Missense_Mutation_p.V611I|KANSL1_ENST00000572904.1_Missense_Mutation_p.V611I|KANSL1_ENST00000575318.1_Missense_Mutation_p.V611I	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	611					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)											GAAAGAGGAACGATGCTGTTG	0.502																																						ENST00000262419.6																			0											c.(1831-1833)Gtt>Att		KAT8 regulatory NSL complex subunit 1		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	83	68	73		1831,1831,1831	2.9	0.8	17		73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	KIAA1267	NM_001193465.1,NM_001193466.1,NM_015443.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	611/1105,611/1106,611/1106	44143920	1,13005	2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44143920C>T	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.1831G>A	17.37:g.44143920C>T	ENSP00000262419:p.Val611Ile					KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Missense_Mutation_p.V611I|KANSL1_ENST00000575318.1_Missense_Mutation_p.V611I|KANSL1_ENST00000574590.1_Missense_Mutation_p.V611I|KANSL1_ENST00000572904.1_Missense_Mutation_p.V611I	p.V611I	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			6	2301	-			611					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	ENST00000262419.6	37	c.1831G>A	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	6.717	0.500917	0.12822	0.0	1.16E-4	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12039	2.72;2.72	5.03	2.9	0.33743	.	0.412793	0.25363	N	0.031216	T	0.07954	0.0199	L	0.36672	1.1	0.49483	D	0.999794	P;B	0.37398	0.593;0.422	B;B	0.32393	0.09;0.145	T	0.30534	-0.9975	10	0.22706	T	0.39	-2.6663	4.74	0.13008	0.0:0.6275:0.18:0.1925	.	611;611	C9JHY2;Q7Z3B3	.;K1267_HUMAN	I	611	ENSP00000262419:V611I;ENSP00000387393:V611I	ENSP00000262419:V611I	V	-	1	0	KIAA1267	41499742	0.359000	0.24955	0.789000	0.31954	0.512000	0.34134	0.686000	0.25392	1.108000	0.41662	-0.266000	0.10368	GTT		0.502	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		31	172	0	0	0	1	0	31	172					T	44143920	C	T	44143920	3	4	79	1	0	0	0	0	1	0	0	0	8249	536	19	1	1526	1	KIAA1267	17	44143920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33380	44143920	37051290	17395	27712											
KIAA1267	284058	broad.mit.edu	37	chr17	44172013	44172013	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgagcctgaagccagttccaGcggctgacaatagctgcccg	12	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44172013G>T	ENST00000262419.6	-	3	1814	c.1344C>A	c.(1342-1344)cgC>cgA	p.R448R	KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Silent_p.R448R|KANSL1_ENST00000432791.1_Silent_p.R448R|KANSL1_ENST00000572904.1_Silent_p.R448R|KANSL1_ENST00000575318.1_Silent_p.R448R	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	448					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)											GCCAGTTCCAGCGGCTGACAA	0.438																																						ENST00000393476.3																			0													KAT8 regulatory NSL complex subunit 1							104	124	117					17																	44172013		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44172013G>T	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.1344C>A	17.37:g.44172013G>T						KANSL1_ENST00000432791.1_Silent_p.R448R|KANSL1_ENST00000575318.1_Silent_p.R448R|KANSL1_ENST00000574590.1_Silent_p.R448R|KANSL1_ENST00000572904.1_Silent_p.R448R|KANSL1_ENST00000262419.6_Silent_p.R448R				Q7Z3B3	K1267_HUMAN			0	1814	-								A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Translation_Start_Site	SNP	ENST00000262419.6	37		CCDS11503.1																																																																																				0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		107	559	1	0	2.84368e-68	1	3.60535e-68	107	559					T	44172013	G	T	44172013	2	4	79	1	0	0	0	0	0	0	0	1	8249	958	34	3		3	KIAA1267	17	44172013	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28093	44172013	37023197	17396	27713											
KIAA1267	284058	broad.mit.edu	37	chr17	44248620	44248620	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttttgtaatctgcgggcaCggctctcaatgtcagcctgt	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44248620C>T	ENST00000262419.6	-	2	1360	c.890G>A	c.(889-891)cGt>cAt	p.R297H	KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Missense_Mutation_p.R297H|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Missense_Mutation_p.R297H|KANSL1_ENST00000572904.1_Missense_Mutation_p.R297H|KANSL1_ENST00000575318.1_Missense_Mutation_p.R297H	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	297					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)											TCTGCGGGCACGGCTCTCAAT	0.478																																						ENST00000393476.3																			0													KAT8 regulatory NSL complex subunit 1							61	73	69					17																	44248620		2203	4300	6503	SO:0001583	missense	284058					MLL1 complex	protein binding	g.chr17:44248620C>T	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.890G>A	17.37:g.44248620C>T	ENSP00000262419:p.Arg297His					KANSL1_ENST00000432791.1_Missense_Mutation_p.R297H|KANSL1_ENST00000575318.1_Missense_Mutation_p.R297H|KANSL1_ENST00000574590.1_Missense_Mutation_p.R297H|KANSL1_ENST00000572904.1_Missense_Mutation_p.R297H|KANSL1_ENST00000262419.6_Missense_Mutation_p.R297H				Q7Z3B3	K1267_HUMAN			0	1360	-								A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Translation_Start_Site	SNP	ENST00000262419.6	37		CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953108	0.73902	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.12774	2.65;2.65	6.04	5.06	0.68205	.	0.050793	0.85682	D	0.000000	T	0.28863	0.0716	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.87578	0.729;0.998	T	0.02758	-1.1114	10	0.87932	D	0	-6.9397	15.3996	0.74827	0.1404:0.8596:0.0:0.0	.	297;297	C9JHY2;Q7Z3B3	.;K1267_HUMAN	H	297	ENSP00000262419:R297H;ENSP00000387393:R297H	ENSP00000262419:R297H	R	-	2	0	KIAA1267	41604397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.253000	0.78320	1.542000	0.49330	0.561000	0.74099	CGT		0.478	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		70	248	0	0	0	1	0	70	248					T	44248620	C	T	44248620	3	4	79	1	0	0	0	0	1	0	0	0	8249	536	19	1	2483	1	KIAA1267	17	44248620	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76607	44248620	36946590	17397	27714											
WNT3	7473	broad.mit.edu	37	chr17	44845788	44845788	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttccttccgcttctccgtCctcgtgttgtggccccggcc	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44845788C>T	ENST00000225512.5	-	4	1128	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	322					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTTCTCCGTCCTCGTGTTGT	0.582																																						ENST00000225512.5																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13						c.(964-966)agG>agA		wingless-type MMTV integration site family, member 3							135	117	123					17																	44845788		2203	4300	6503	SO:0001819	synonymous_variant	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845788C>T	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.966G>A	17.37:g.44845788C>T							p.R322R	NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1128	-			322					Q2M237|Q9H1J9	Silent	SNP	ENST00000225512.5	37	c.966G>A	CCDS11505.1																																																																																				0.582	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		148	572	0	0	0	1	0	148	572					T	44845788	C	T	44845788	2	4	79	1	0	0	0	0	0	0	0	1	17442	854	30	2		2	WNT3	17	44845788	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	597168	44845788	36349422	17398	27715											
MYL4	4635	broad.mit.edu	37	chr17	45299202	45299202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgggtgctgagcttcgGcacgtccttgccaccctggg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45299202G>A	ENST00000354968.1	+	5	596	c.468G>A	c.(466-468)cgG>cgA	p.R156R	snoU13_ENST00000516279.1_RNA|MYL4_ENST00000572316.1_Silent_p.R156R|MYL4_ENST00000393450.1_Silent_p.R156R	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	156	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CTGAGCTTCGGCACGTCCTTG	0.592																																						ENST00000354968.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						c.(466-468)cgG>cgA		myosin, light chain 4, alkali; atrial, embryonic							97	73	81					17																	45299202		2203	4300	6503	SO:0001819	synonymous_variant	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45299202G>A		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.468G>A	17.37:g.45299202G>A						MYL4_ENST00000572316.1_Silent_p.R156R|MYL4_ENST00000393450.1_Silent_p.R156R	p.R156R	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN			5	596	+			156			EF-hand 2.		D3DXJ7|P11783	Silent	SNP	ENST00000354968.1	37	c.468G>A	CCDS11510.1																																																																																				0.592	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		6	280	0	0	0	1	0	6	280					A	45299202	G	A	45299202	2	1	79	1	0	0	0	0	0	0	0	1	10090	1190	42	2		2	MYL4	17	45299202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453414	45299202	35896008	17399	27716											
ITGB3	3690	broad.mit.edu	37	chr17	45360742	45360742	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcctctgggctcacctcGctgtgacctgaaggagaatc	11	14	2	3	rs370054364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45360742G>A	ENST00000559488.1	+	3	204	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	63					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572																																						ENST00000559488.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(187-189)cGc>cAc		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)	G	HIS/ARG	0,4406		0,0,2203	71	64	67		188	5.9	1	17		67	2,8598	1.2+/-3.3	0,2,4298	no	missense	ITGB3	NM_000212.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	63/789	45360742	2,13004	2203	4300	6503	SO:0001583	missense	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45360742G>A		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.188G>A	17.37:g.45360742G>A	ENSP00000452786:p.Arg63His					ITGB3_ENST00000560629.1_Silent_p.S51S|ITGB3_ENST00000571680.1_Missense_Mutation_p.R63H|ITGB3_ENST00000435993.2_Missense_Mutation_p.R16H	p.R63H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN			3	204	+			63					A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.188G>A	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198349	0.94997	0.0	2.33E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.95788	-3.81	5.88	5.88	0.94601	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	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	D	0.98928	1.0786	10	0.87932	D	0	.	17.703	0.88301	0.0:0.0:1.0:0.0	.	63;63	P05106;Q2YFE1	ITB3_HUMAN;.	H	63;16	ENSP00000407801:R16H	ENSP00000262017:R63H	R	+	2	0	C17orf57	42715741	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.824000	0.99380	2.776000	0.95493	0.655000	0.94253	CGC		0.572	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		45	196	0	0	0	1	0	45	196					A	45360742	G	A	45360742	3	1	79	1	0	0	0	0	1	0	0	0	7925	1087	38	1	198	1	ITGB3	17	45360742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61540	45360742	35834468	17400	27717											
C17orf57	124989	broad.mit.edu	37	chr17	45481348	45481348	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgggattaagtcacctaaaGaagaggtagagaaaattctt	10	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45481348G>T	ENST00000331493.2	+	19	2533	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.E612*	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	708						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GTCACCTAAAGAAGAGGTAGA	0.358																																						ENST00000331493.2																			0											c.(2122-2124)Gaa>Taa		EF-hand calcium binding domain 13							83	89	87					17																	45481348		2203	4300	6503	SO:0001587	stop_gained	124989							g.chr17:45481348G>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2122G>T	17.37:g.45481348G>T	ENSP00000332111:p.Glu708*					EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.E612*	p.E708*	NM_152347.4	NP_689560.3					19	2533	+								G3V128|Q49AG9	Nonsense_Mutation	SNP	ENST00000331493.2	37	c.2122G>T	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	38	6.920217	0.97936	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	.	.	.	4.04	1.38	0.22167	.	0.891302	0.09597	N	0.780753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.5919	6.5462	0.22406	0.2344:0.0:0.7656:0.0	.	.	.	.	X	708;612	.	ENSP00000332111:E708X	E	+	1	0	C17orf57	42836347	0.997000	0.39634	0.899000	0.35326	0.648000	0.38561	1.204000	0.32296	0.114000	0.18032	0.586000	0.80456	GAA		0.358	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347		82	347	1	0	1.52223e-32	1	1.79814e-32	82	347					T	45481348	G	T	45481348	4	4	79	1	0	0	0	0	0	1	0	0	1871	943	33	3	2184	3	C17orf57	17	45481348	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120606	45481348	35713862	17401	27718											
TBX21	30009	broad.mit.edu	37	chr17	45811195	45811195	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggccgcgtgaggactaCgcgctacccgcgggactgga	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45811195C>T	ENST00000177694.1	+	1	586	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	125					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGAGGACTACGCGCTACCCG	0.692																																						ENST00000177694.1																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(373-375)taC>taT		T-box 21							11	13	12					17																	45811195		1874	4094	5968	SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45811195C>T	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.375C>T	17.37:g.45811195C>T							p.Y125Y	NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN			1	586	+			125						Silent	SNP	ENST00000177694.1	37	c.375C>T	CCDS11514.1																																																																																				0.692	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		21	70	0	0	0	1	0	21	70					T	45811195	C	T	45811195	2	4	79	1	0	0	0	0	0	0	0	1	15709	547	19	1		1	TBX21	17	45811195	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	329847	45811195	35384015	17402	27719											
OSBPL7	114881	broad.mit.edu	37	chr17	45886509	45886509	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctcgtgccacttcccaaaGagtcggtggaggacacggcc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45886509G>T	ENST00000007414.3	-	20	2294	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	OSBPL7_ENST00000392507.3_Silent_p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	701					cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACTTCCCAAAGAGTCGGTGGA	0.637																																						ENST00000007414.3																			0				autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2101-2103)ctC>ctA		oxysterol binding protein-like 7							51	55	54					17																	45886509		2203	4300	6503	SO:0001819	synonymous_variant	114881				lipid transport		lipid binding	g.chr17:45886509G>T	AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2103C>A	17.37:g.45886509G>T						OSBPL7_ENST00000392507.3_Silent_p.L701L	p.L701L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN			20	2294	-			701					D3DTT6|Q6PIV6	Silent	SNP	ENST00000007414.3	37	c.2103C>A	CCDS11515.1																																																																																				0.637	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441367.1	NM_017731		63	293	1	0	7.92265e-33	1	9.37054e-33	63	293					T	45886509	G	T	45886509	2	4	79	1	0	0	0	0	0	0	0	1	11324	929	33	3		3	OSBPL7	17	45886509	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75314	45886509	35308701	17403	27720											
MRPL10	124995	broad.mit.edu	37	chr17	45904115	45904115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaggggcagcagattttgGtacttggaatcctccaggaa	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45904115G>A	ENST00000351111.2	-	4	425	c.420C>T	c.(418-420)taC>taT	p.Y140Y	MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000290208.7_Silent_p.Y150Y	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																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(448-450)taC>taT		mitochondrial ribosomal protein L10							64	58	60					17																	45904115		2203	4300	6503	SO:0001819	synonymous_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45904115G>A	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>T	17.37:g.45904115G>A						MRPL10_ENST00000414011.1_Silent_p.Y150Y|MRPL10_ENST00000351111.2_Silent_p.Y140Y	p.Y150Y			Q7Z7H8	RM10_HUMAN			4	902	-			140					A6NGJ4|Q96B80|Q96Q55	Silent	SNP	ENST00000351111.2	37	c.450C>T	CCDS11516.1																																																																																				0.537	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		66	307	0	0	0	1	0	66	307					A	45904115	G	A	45904115	2	1	79	1	0	0	0	0	0	0	0	1	9816	1256	44	2		2	MRPL10	17	45904115	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17606	45904115	35291095	17404	27721											
LRRC46	90506	broad.mit.edu	37	chr17	45909502	45909502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagaggaagggggcgtctGcatcactgaagcccttatca	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45909502G>A	ENST00000269025.4	+	2	410	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	MRPL10_ENST00000414011.1_5'Flank|MRPL10_ENST00000351111.2_5'Flank|MRPL10_ENST00000290208.7_5'Flank	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGGGCGTCTGCATCACTGAA	0.532																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(46-48)tGc>tAc		leucine rich repeat containing 46							156	147	150					17																	45909502		2203	4300	6503	SO:0001583	missense	90506							g.chr17:45909502G>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.47G>A	17.37:g.45909502G>A	ENSP00000269025:p.Cys16Tyr						p.C16Y	NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN			2	410	+			16					A8K9Q0	Missense_Mutation	SNP	ENST00000269025.4	37	c.47G>A	CCDS11518.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644109	0.29246	.	.	ENSG00000141294	ENST00000269025	T	0.75050	-0.9	5.69	3.57	0.40892	.	0.589593	0.17425	N	0.174671	T	0.53738	0.1815	L	0.27053	0.805	0.29634	N	0.845248	P	0.44877	0.845	B	0.41619	0.361	T	0.54899	-0.8224	10	0.02654	T	1	-4.0105	5.8611	0.18747	0.0979:0.0:0.712:0.1901	.	16	Q96FV0	LRC46_HUMAN	Y	16	ENSP00000269025:C16Y	ENSP00000269025:C16Y	C	+	2	0	LRRC46	43264501	0.980000	0.34600	0.984000	0.44739	0.686000	0.39977	1.122000	0.31295	1.381000	0.46364	0.561000	0.74099	TGC		0.532	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		54	601	0	0	0	1	0	54	601					A	45909502	G	A	45909502	3	1	79	1	0	0	0	0	1	0	0	0	9041	1319	46	2	53	2	LRRC46	17	45909502	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5387	45909502	35285708	17405	27722											
SP2	6668	broad.mit.edu	37	chr17	45994216	45994216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcccagccccctgtggCtgtggctgagcaggtggaga	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45994216C>A	ENST00000376741.4	+	3	916	c.779C>A	c.(778-780)gCt>gAt	p.A260D	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	260					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						CCCCCTGTGGCTGTGGCTGAG	0.592																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(778-780)gCt>gAt		Sp2 transcription factor							103	109	107					17																	45994216		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994216C>A		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.779C>A	17.37:g.45994216C>A	ENSP00000365931:p.Ala260Asp					AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	p.A260D	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	916	+			260					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.779C>A	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613810	0.87359	.	.	ENSG00000167182	ENST00000376741	T	0.10477	2.87	5.31	5.31	0.75309	.	0.123853	0.56097	D	0.000039	T	0.16085	0.0387	L	0.34521	1.04	0.54753	D	0.999987	D	0.60575	0.988	P	0.51657	0.676	T	0.01440	-1.1354	10	0.30078	T	0.28	.	17.9058	0.88918	0.0:1.0:0.0:0.0	.	260	Q02086	SP2_HUMAN	D	260	ENSP00000365931:A260D	ENSP00000365931:A260D	A	+	2	0	SP2	43349215	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.424000	0.59868	2.768000	0.95171	0.467000	0.42956	GCT		0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		151	728	1	0	2.64144e-59	1	3.31638e-59	151	728					A	45994216	C	A	45994216	3	1	79	1	0	0	0	0	1	0	0	0	15014	797	28	3	789	3	SP2	17	45994216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84714	45994216	35200994	17406	27723											
SP2	6668	broad.mit.edu	37	chr17	46002805	46002805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctgcgtgcccatgtgCgcctgcacactggcgagcgg	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46002805C>T	ENST00000376741.4	+	6	1776	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	547					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						TGCCCATGTGCGCCTGCACAC	0.592																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(1639-1641)Cgc>Tgc		Sp2 transcription factor							175	158	164					17																	46002805		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46002805C>T		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.1639C>T	17.37:g.46002805C>T	ENSP00000365931:p.Arg547Cys					AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	p.R547C	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			6	1776	+			547					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.1639C>T	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415481	0.83449	.	.	ENSG00000167182	ENST00000376741	T	0.25749	1.78	4.87	4.87	0.63330	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	0.54631	0.1870	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.61806	-0.6987	10	0.87932	D	0	.	16.9362	0.86203	0.0:1.0:0.0:0.0	.	547	Q02086	SP2_HUMAN	C	547	ENSP00000365931:R547C	ENSP00000365931:R547C	R	+	1	0	SP2	43357804	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.873000	0.69644	2.531000	0.85337	0.462000	0.41574	CGC		0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		174	798	0	0	0	1	0	174	798					T	46002805	C	T	46002805	3	4	79	1	0	0	0	0	1	0	0	0	15014	768	27	1	1661	1	SP2	17	46002805	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8589	46002805	35192405	17407	27724											
PNPO	55163	broad.mit.edu	37	chr17	46024046	46024046	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaaccaaccgcctgcatgaCcggatagtctttcggcgggg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46024046C>A	ENST00000225573.4	+	7	789	c.684C>A	c.(682-684)gaC>gaA	p.D228E	PNPO_ENST00000544840.1_Missense_Mutation_p.D210E|PNPO_ENST00000534893.1_Missense_Mutation_p.D133E|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|RP11-6N17.6_ENST00000580372.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	228					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						GCCTGCATGACCGGATAGTCT	0.572											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225573.4																			0				endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						c.(682-684)gaC>gaA		pyridoxamine 5'-phosphate oxidase	Pyridoxal Phosphate(DB00114)						80	82	81					17																	46024046		2203	4300	6503	SO:0001583	missense	55163				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	g.chr17:46024046C>A	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.684C>A	17.37:g.46024046C>A	ENSP00000225573:p.Asp228Glu		OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	936	RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000434554.2_Missense_Mutation_p.D185E|PNPO_ENST00000544840.1_Missense_Mutation_p.D210E|PNPO_ENST00000534893.1_Missense_Mutation_p.D133E	p.D228E	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN			7	789	+			228					B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	ENST00000225573.4	37	c.684C>A	CCDS11522.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.668792	0.88348	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.22	4.24	0.50183	Pyridoxine 5&apos (1);Pyridoxamine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase, conserved site (1);-phosphate oxidase, dimerisation, C-terminal (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.986;0.999	D	0.90007	0.4118	10	0.87932	D	0	-5.5804	13.0283	0.58827	0.0:0.9187:0.0:0.0813	.	185;210;228	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	E	228;185;210;133	ENSP00000225573:D228E;ENSP00000399960:D185E;ENSP00000446182:D210E;ENSP00000437480:D133E	ENSP00000225573:D228E	D	+	3	2	PNPO	43379045	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.934000	0.48956	2.439000	0.82584	0.561000	0.74099	GAC		0.572	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1	NM_018129		100	368	1	0	8.26238e-36	1	9.87673e-36	100	368					A	46024046	C	A	46024046	3	1	79	1	0	0	0	0	1	0	0	0	12214	506	18	3	710	3	PNPO	17	46024046	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21241	46024046	35171164	17408	27725											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46052879	46052879	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcttctcccctctctaGggcgaaaatgtccgaggaga	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46052879G>A	ENST00000338399.4	+	7	619		c.e7-1		RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Splice_Site	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CCCCTCTCTAGGGCGAAAATG	0.572																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.e7-1		CDK5 regulatory subunit associated protein 3							50	54	52					17																	46052879		2075	4219	6294	SO:0001630	splice_region_variant	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46052879G>A	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.514-1G>A	17.37:g.46052879G>A						CDK5RAP3_ENST00000338399.4_Splice_Site		NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			7	697	+								B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Splice_Site	SNP	ENST00000338399.4	37		CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475090	0.43942	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9577	0.89074	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK5RAP3	43407878	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	8.986000	0.93492	2.547000	0.85894	0.655000	0.94253	.		0.572	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096	Intron	62	268	0	0	0	1	0	62	268					A	46052879	G	A	46052879	5	1	79	1	0	0	0	0	0	0	1	0	3156	1014	35	2	539	2	CDK5RAP3	17	46052879	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28833	46052879	35142331	17409	27726											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46056230	46056230	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggcccagatgccctgAcactgcttgaatacactgag	11	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46056230A>T	ENST00000338399.4	+	11	1130	c.1024A>T	c.(1024-1026)Aca>Tca	p.T342S	RP11-6N17.10_ENST00000578239.1_RNA|CDK5RAP3_ENST00000578663.1_3'UTR|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.T367S	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	342					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						AGATGCCCTGACACTGCTTGA	0.537											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(1099-1101)Aca>Tca		CDK5 regulatory subunit associated protein 3							102	96	98					17																	46056230		1942	4167	6109	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46056230A>T	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.1024A>T	17.37:g.46056230A>T	ENSP00000344683:p.Thr342Ser		OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	936	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.T342S|CDK5RAP3_ENST00000578663.1_3'UTR	p.T367S	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			11	1208	+			342					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.1099A>T	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689435	0.29962	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.45276	0.9;0.9	5.18	5.18	0.71444	.	0.329096	0.32935	N	0.005468	T	0.25901	0.0631	N	0.25060	0.705	0.41095	D	0.985628	B;B;B;B	0.26845	0.161;0.097;0.068;0.019	B;B;B;B	0.28991	0.058;0.039;0.097;0.015	T	0.08310	-1.0728	10	0.08599	T	0.76	3.0927	9.5267	0.39169	0.8426:0.0:0.0:0.1574	.	367;255;342;117	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	S	367;342	ENSP00000438886:T367S;ENSP00000344683:T342S	ENSP00000344683:T342S	T	+	1	0	CDK5RAP3	43411229	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.106000	0.50322	2.168000	0.68352	0.533000	0.62120	ACA		0.537	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		69	371	0	0	0	1	0	69	371					T	46056230	A	T	46056230	3	4	79	1	0	0	0	0	1	0	0	0	3156	275	10	5	1066	5	CDK5RAP3	17	46056230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3351	46056230	35138980	17410	27727											
COPZ2	51226	broad.mit.edu	37	chr17	46106511	46106511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctaaaattcaccttctggaTcacttgctgggggtcactct	8	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46106511T>C	ENST00000006101.4	-	8	519	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	176					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						ACCTTCTGGATCACTTGCTGG	0.532																																						ENST00000006101.4																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(520-522)Atc>Gtc		coatomer protein complex, subunit zeta 2							48	51	50					17																	46106511		1933	4142	6075	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46106511T>C	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"nonclathrin coat protein zeta-COP", "zeta2-COP", "zeta-2 coat protein"	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.520A>G	17.37:g.46106511T>C	ENSP00000006101:p.Ile174Val					COPZ2_ENST00000584666.1_5'UTR	p.I174V	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN			8	519	-			176						Missense_Mutation	SNP	ENST00000006101.4	37	c.520A>G		.	.	.	.	.	.	.	.	.	.	T	10.52	1.374389	0.24857	.	.	ENSG00000005243	ENST00000006101	.	.	.	4.04	-1.33	0.09172	Longin-like (1);AP complex, mu/sigma subunit (1);	0.449517	0.21559	N	0.072601	T	0.17066	0.0410	N	0.03209	-0.39	0.33074	D	0.53575	B	0.02656	0.0	B	0.09377	0.004	T	0.44097	-0.9350	9	0.02654	T	1	-29.0323	9.9016	0.41351	0.0:0.505:0.0:0.495	.	176	Q9P299	COPZ2_HUMAN	V	174	.	ENSP00000006101:I174V	I	-	1	0	COPZ2	43461510	0.993000	0.37304	0.994000	0.49952	0.994000	0.84299	0.260000	0.18424	-0.265000	0.09352	0.448000	0.29417	ATC		0.532	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		8	13	0	0	0	1	0	8	13					C	46106511	T	C	46106511	3	2	79	1	0	0	0	0	1	0	0	0	3751	1435	50	4	118	4	COPZ2	17	46106511	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	50281	46106511	35088699	17411	27728											
NFE2L1	4779	broad.mit.edu	37	chr17	46128755	46128755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgagggccctggacaGgttccaggtgccaaccactg	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46128755G>T	ENST00000362042.3	+	2	891	c.275G>T	c.(274-276)aGg>aTg	p.R92M	NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M|NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M|NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	92					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTGGACAGGTTCCAGGTG	0.592																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(274-276)aGg>aTg		nuclear factor, erythroid 2-like 1							67	71	69					17																	46128755		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128755G>T	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.275G>T	17.37:g.46128755G>T	ENSP00000354855:p.Arg92Met					NFE2L1_ENST00000585291.1_Missense_Mutation_p.R92M|NFE2L1_ENST00000361665.3_Missense_Mutation_p.R92M|NFE2L1_ENST00000357480.5_Missense_Mutation_p.R92M	p.R92M	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			2	891	+			92					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.275G>T	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760311	0.31137	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.40225	1.04;1.04	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;P	0.79108	0.992;0.948;0.864	T	0.65051	-0.6262	10	0.54805	T	0.06	-11.4946	17.7252	0.88363	0.0:0.0:1.0:0.0	.	92;92;92	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	M	111;92;92	ENSP00000355190:R92M;ENSP00000350072:R92M	ENSP00000350072:R92M	R	+	2	0	NFE2L1	43483754	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.576000	0.82467	2.495000	0.84180	0.563000	0.77884	AGG		0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		93	447	1	0	1.11079e-38	1	1.33978e-38	93	447					T	46128755	G	T	46128755	3	4	79	1	0	0	0	0	1	0	0	0	10409	1000	35	3	277	3	NFE2L1	17	46128755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22244	46128755	35066455	17412	27729											
NFE2L1	4779	broad.mit.edu	37	chr17	46133807	46133807	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatctgggggctgggcgtgaGgtttttgactatagtcaccg	16	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46133807G>T	ENST00000362042.3	+	3	1186	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	190	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)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGCGTGAGGTTTTTGACT	0.542																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(568-570)gaG>gaT		nuclear factor, erythroid 2-like 1							278	280	279					17																	46133807		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46133807G>T	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.570G>T	17.37:g.46133807G>T	ENSP00000354855:p.Glu190Asp					NFE2L1_ENST00000585291.1_Missense_Mutation_p.E190D|NFE2L1_ENST00000361665.3_Missense_Mutation_p.E179D|NFE2L1_ENST00000357480.5_Missense_Mutation_p.E190D|NFE2L1_ENST00000582155.1_Missense_Mutation_p.E32D|NFE2L1_ENST00000536222.1_Missense_Mutation_p.E64D|NFE2L1_ENST00000583378.1_Missense_Mutation_p.E21D	p.E190D	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			3	1186	+			190			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.570G>T	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409615	0.83340	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.46063	0.88;1.01	5.48	3.48	0.39840	.	0.098545	0.64402	D	0.000002	T	0.45637	0.1352	L	0.55103	1.725	0.49687	D	0.999813	D;P;P;P;B	0.59767	0.986;0.877;0.787;0.787;0.058	P;B;B;B;B	0.52267	0.694;0.315;0.295;0.197;0.031	T	0.41840	-0.9486	10	0.51188	T	0.08	-28.7338	8.7869	0.34825	0.2391:0.0:0.7609:0.0	.	64;32;190;190;190	F5H1B7;B4DYE1;A3KMG6;Q14494-2;Q14494	.;.;.;.;NF2L1_HUMAN	D	209;190;190;64	ENSP00000350072:E190D;ENSP00000445811:E64D	ENSP00000350072:E190D	E	+	3	2	NFE2L1	43488806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.827000	0.39102	1.330000	0.45394	0.491000	0.48974	GAG		0.542	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		32	1930	1	0	2.27111e-07	1	2.35674e-07	32	1930					T	46133807	G	T	46133807	3	4	79	1	0	0	0	0	1	0	0	0	10409	991	35	3	576	3	NFE2L1	17	46133807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5052	46133807	35061403	17413	27730											
NFE2L1	4779	broad.mit.edu	37	chr17	46134725	46134725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtttccagcagacatttccaGcataacagaagcagtgccta	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46134725G>T	ENST00000362042.3	+	5	1449	c.833G>T	c.(832-834)aGc>aTc	p.S278I	NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	278	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)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACATTTCCAGCATAACAGAA	0.488																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(832-834)aGc>aTc		nuclear factor, erythroid 2-like 1							167	157	161					17																	46134725		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46134725G>T	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.833G>T	17.37:g.46134725G>T	ENSP00000354855:p.Ser278Ile					NFE2L1_ENST00000585291.1_Missense_Mutation_p.S248I|NFE2L1_ENST00000361665.3_Missense_Mutation_p.S267I|NFE2L1_ENST00000357480.5_Missense_Mutation_p.S248I|NFE2L1_ENST00000582155.1_Missense_Mutation_p.S90I|NFE2L1_ENST00000536222.1_Missense_Mutation_p.S122I|NFE2L1_ENST00000583378.1_Missense_Mutation_p.S79I	p.S278I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			5	1449	+			278			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.833G>T	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697822	0.48307	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.20200	2.36;2.09	5.64	4.66	0.58398	.	0.551536	0.22298	N	0.061915	T	0.20861	0.0502	L	0.54323	1.7	0.35028	D	0.758518	B;P;P;B	0.42409	0.002;0.779;0.773;0.0	B;B;B;B	0.37304	0.006;0.125;0.246;0.002	T	0.25398	-1.0133	10	0.44086	T	0.13	-19.977	13.2897	0.60264	0.0778:0.0:0.9222:0.0	.	122;90;248;278	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	I	297;278;248;122	ENSP00000350072:S248I;ENSP00000445811:S122I	ENSP00000350072:S248I	S	+	2	0	NFE2L1	43489724	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.054000	0.30455	2.820000	0.97059	0.650000	0.86243	AGC		0.488	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		119	616	1	0	1.81975e-59	1	2.28519e-59	119	616					T	46134725	G	T	46134725	3	4	79	1	0	0	0	0	1	0	0	0	10409	971	34	3	847	3	NFE2L1	17	46134725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	918	46134725	35060485	17414	27731											
CBX1	10951	broad.mit.edu	37	chr17	46153428	46153428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaatcagaatcagctttgcGcttgcctccctctgatttat	7	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46153428G>A	ENST00000393408.3	-	3	733	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	CBX1_ENST00000225603.4_Missense_Mutation_p.R85C|CBX1_ENST00000495350.1_Missense_Mutation_p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	85					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TCAGCTTTGCGCTTGCCTCCC	0.443																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(253-255)Cgc>Tgc		chromobox homolog 1							88	73	78					17																	46153428		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46153428G>A	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.253C>T	17.37:g.46153428G>A	ENSP00000377060:p.Arg85Cys					CBX1_ENST00000495350.1_Missense_Mutation_p.R85C|CBX1_ENST00000225603.4_Missense_Mutation_p.R85C	p.R85C	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN			3	733	-			85					P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.253C>T	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383460	0.61845	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	.	.	.	5.85	5.85	0.93711	.	0.154565	0.39615	U	0.001312	T	0.59487	0.2197	L	0.47716	1.5	0.80722	D	1	B	0.18610	0.029	B	0.06405	0.002	T	0.55623	-0.8112	9	0.66056	D	0.02	-6.0528	18.9246	0.92540	0.0:0.0:1.0:0.0	.	85	P83916	CBX1_HUMAN	C	85	.	ENSP00000225603:R85C	R	-	1	0	CBX1	43508427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.767000	0.95098	0.655000	0.94253	CGC		0.443	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		44	154	0	0	0	1	0	44	154					A	46153428	G	A	46153428	3	1	79	1	0	0	0	0	1	0	0	0	2724	1087	38	1	316	1	CBX1	17	46153428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18703	46153428	35041782	17415	27732											
CBX1	10951	broad.mit.edu	37	chr17	46154252	46154252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcccttccactttaggaGgtactccactttgcccttta	6	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46154252G>A	ENST00000393408.3	-	2	595	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CBX1_ENST00000225603.4_Missense_Mutation_p.L39F|CBX1_ENST00000495350.1_Missense_Mutation_p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	39	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CACTTTAGGAGGTACTCCACT	0.458																																					NSCLC(136;694 2497 38792 39034)	ENST00000393408.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(115-117)Ctc>Ttc		chromobox homolog 1							280	231	248					17																	46154252		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46154252G>A	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"HP1 beta homolog (Drosophila )"	604511	"chromobox homolog 1 (Drosophila HP1 beta)"			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.115C>T	17.37:g.46154252G>A	ENSP00000377060:p.Leu39Phe					CBX1_ENST00000495350.1_Missense_Mutation_p.L39F|CBX1_ENST00000225603.4_Missense_Mutation_p.L39F	p.L39F	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN			2	595	-			39			Chromo 1.		P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.115C>T	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964686	0.18583	.	.	ENSG00000108468	ENST00000225603;ENST00000393408;ENST00000402583;ENST00000444685	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.85	4.88	0.63580	Chromo domain (1);Chromo domain subgroup (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.64402	U	0.000008	T	0.73690	0.3619	L	0.32530	0.975	0.80722	D	1	B	0.16603	0.018	B	0.20767	0.031	T	0.66791	-0.5834	10	0.10902	T	0.67	-11.6346	14.0385	0.64660	0.0739:0.0:0.9261:0.0	.	39	P83916	CBX1_HUMAN	F	39	ENSP00000225603:L39F;ENSP00000377060:L39F;ENSP00000385413:L39F;ENSP00000393179:L39F	ENSP00000225603:L39F	L	-	1	0	CBX1	43509251	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.835000	0.99442	1.478000	0.48253	0.655000	0.94253	CTC		0.458	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		123	585	0	0	0	1	0	123	585					A	46154252	G	A	46154252	3	1	79	1	0	0	0	0	1	0	0	0	2724	1000	35	2	458	2	CBX1	17	46154252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	824	46154252	35040958	17416	27733											
HOXB1	3211	broad.mit.edu	37	chr17	46607055	46607055	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctgcttcattcgtcGgttctggaaccaaatcttga	7	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607055G>A	ENST00000239174.6	-	2	852	c.760C>T	c.(760-762)Cga>Tga	p.R254*	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCATTCGTCGGTTCTGGAAC	0.602																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(760-762)Cga>Tga		homeobox B1							158	163	161					17																	46607055		2203	4300	6503	SO:0001587	stop_gained	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607055G>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.760C>T	17.37:g.46607055G>A	ENSP00000355140:p.Arg254*					HOXB1_ENST00000577092.1_3'UTR	p.R254*	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			2	852	-			254					Q4VB03	Nonsense_Mutation	SNP	ENST00000239174.6	37	c.760C>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	36	5.654219	0.96724	.	.	ENSG00000120094	ENST00000239174	.	.	.	5.3	5.3	0.74995	.	0.000000	0.45867	D	0.000335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7556	0.69560	0.0:0.0:0.8551:0.1449	.	.	.	.	X	254	.	ENSP00000355140:R254X	R	-	1	2	HOXB1	43962054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.498000	0.35660	2.769000	0.95229	0.655000	0.94253	CGA		0.602	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			210	929	0	0	0	1	0	210	929					A	46607055	G	A	46607055	4	1	79	1	0	0	0	0	0	1	0	0	7329	1124	39	1	149	1	HOXB1	17	46607055	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	452803	46607055	34588155	17417	27734											
HOXB1	3211	broad.mit.edu	37	chr17	46607804	46607804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggagatcagcataggCcggtgcaaagctcgcggtct	16	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607804C>T	ENST00000239174.6	-	1	555	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	155					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAGCATAGGCCGGTGCAAAG	0.607																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(463-465)Gcc>Acc		homeobox B1							63	65	64					17																	46607804		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607804C>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"Homeoboxes / ANTP class : HOXL subclass"	5111	protein-coding gene	gene with protein product		142968	"homeo box B1"	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.463G>A	17.37:g.46607804C>T	ENSP00000355140:p.Ala155Thr					HOXB1_ENST00000577092.1_Missense_Mutation_p.A155T	p.A155T	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			1	555	-			155					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.463G>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	3.193	-0.165467	0.06461	.	.	ENSG00000120094	ENST00000239174	D	0.89746	-2.56	4.71	-2.41	0.06562	.	0.641465	0.13801	N	0.361835	T	0.67674	0.2918	N	0.05078	-0.115	0.21020	N	0.999808	B	0.02656	0.0	B	0.04013	0.001	T	0.56251	-0.8010	10	0.16896	T	0.51	.	2.011	0.03488	0.2046:0.4212:0.1006:0.2737	.	155	P14653	HXB1_HUMAN	T	155	ENSP00000355140:A155T	ENSP00000355140:A155T	A	-	1	0	HOXB1	43962803	0.001000	0.12720	0.792000	0.32020	0.769000	0.43574	-0.397000	0.07269	-0.017000	0.14103	-0.899000	0.02877	GCC		0.607	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			46	201	0	0	0	1	0	46	201					T	46607804	C	T	46607804	3	4	79	1	0	0	0	0	1	0	0	0	7329	739	26	2	450	2	HOXB1	17	46607804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	749	46607804	34587406	17418	27735											
HOXB3	3213	broad.mit.edu	37	chr17	46628044	46628044	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtacttctgcggggcGccgcagcctttgagaggggg	20	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628044G>A	ENST00000470495.1	-	2	2395	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Silent_p.G243G|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G			P14651	HXB3_HUMAN	homeobox B3	316					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						TCTGCGGGGCGCCGCAGCCTT	0.697											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(946-948)ggC>ggT		homeobox B3							37	47	44					17																	46628044		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628044G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.948C>T	17.37:g.46628044G>A			OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB3_ENST00000489475.1_Silent_p.G243G|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Silent_p.G184G	p.G316G			P14651	HXB3_HUMAN			2	2395	-			316					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.948C>T	CCDS11528.1																																																																																				0.697	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			111	469	0	0	0	1	0	111	469					A	46628044	G	A	46628044	2	1	79	1	0	0	0	0	0	0	0	1	7332	1074	38	1		1	HOXB3	17	46628044	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20240	46628044	34567166	17419	27736											
HOXB3	3213	broad.mit.edu	37	chr17	46628302	46628302	+	Silent	SNP	C	C	T													tggaaccagatcttgatctgCcgctcgctgaggttcagcag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628302C>T	ENST00000470495.1	-	2	2137	c.690G>A	c.(688-690)cgG>cgA	p.R230R	HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000485909.2_Silent_p.R98R|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Silent_p.R157R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R			P14651	HXB3_HUMAN	homeobox B3	230					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						TCTTGATCTGCCGCTCGCTGA	0.612																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(688-690)cgG>cgA		homeobox B3							101	103	102					17																	46628302		2203	4300	6503	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628302C>T		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.690G>A	17.37:g.46628302C>T						HOXB3_ENST00000311626.4_Silent_p.R230R|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.R230R|HOXB3_ENST00000460160.1_Silent_p.R98R|HOXB3_ENST00000476342.1_Silent_p.R230R|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Silent_p.R157R|HOXB3_ENST00000489475.1_Silent_p.R157R|HOXB3_ENST00000490677.1_Silent_p.R96R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Silent_p.R98R	p.R230R			P14651	HXB3_HUMAN			2	2137	-			230					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.690G>A	CCDS11528.1																																																																																				0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			146	707	0	0	0	1	0	146	707					T	46628302	C	T	46628302	2	4	79	1	0	0	0	0	0	0	0	1	7332	726	26	2		2	HOXB3	17	46628302	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	258	46628302	34566908	17420	27737	175	2									
HOXB3	3213	broad.mit.edu	37	chr17	46628304	46628304	+	Missense_Mutation	SNP	G	G	A													gaaccagatcttgatctgccGctcgctgaggttcagcaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628304G>A	ENST00000470495.1	-	2	2135	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W			P14651	HXB3_HUMAN	homeobox B3	230					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						TTGATCTGCCGCTCGCTGAGG	0.612																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(688-690)Cgg>Tgg		homeobox B3							100	103	102					17																	46628304		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628304G>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.688C>T	17.37:g.46628304G>A	ENSP00000417207:p.Arg230Trp					HOXB3_ENST00000311626.4_Missense_Mutation_p.R230W|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.R230W|HOXB3_ENST00000460160.1_Missense_Mutation_p.R98W|HOXB3_ENST00000476342.1_Missense_Mutation_p.R230W|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R157W|HOXB3_ENST00000489475.1_Missense_Mutation_p.R157W|HOXB3_ENST00000490677.1_Missense_Mutation_p.R96W|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000485909.2_Missense_Mutation_p.R98W	p.R230W			P14651	HXB3_HUMAN			2	2135	-			230					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.688C>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241850	0.58995	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	D;D;D;D;D;D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15;-4.15	3.43	3.43	0.39272	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98479	1.0604	10	0.87932	D	0	.	10.6315	0.45538	0.0:0.0:0.6691:0.3309	.	230	P14651	HXB3_HUMAN	W	230;157;230;230;96;98;98;157;230	ENSP00000417207:R230W;ENSP00000419676:R157W;ENSP00000308252:R230W;ENSP00000420595:R230W;ENSP00000449977:R96W;ENSP00000418035:R98W;ENSP00000438747:R98W;ENSP00000418729:R157W;ENSP00000418892:R230W	ENSP00000308252:R230W	R	-	1	2	HOXB3	43983303	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.259000	0.32956	1.954000	0.56735	0.644000	0.83932	CGG		0.612	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			70	786	0	0	0	1	0	70	786					A	46628304	G	A	46628304	3	1	79	1	0	0	0	0	1	0	0	0	7332	1086	38	1	611	1	HOXB3	17	46628304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	46628304	34566906	17421	27738	175	2									
HOXB3	3213	broad.mit.edu	37	chr17	46629754	46629754	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttggggggggacatcgaagCcgaagccattgctgccaggg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46629754C>A	ENST00000470495.1	-	1	1530	c.83G>T	c.(82-84)gGc>gTc	p.G28V	HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000485909.2_Intron|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000489475.1_Intron|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron			P14651	HXB3_HUMAN	homeobox B3	28					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						GACATCGAAGCCGAAGCCATT	0.652																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(82-84)gGc>gTc		homeobox B3							35	42	39					17																	46629754		2203	4300	6503	SO:0001583	missense	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629754C>A		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.83G>T	17.37:g.46629754C>A	ENSP00000417207:p.Gly28Val					HOXB3_ENST00000311626.4_Missense_Mutation_p.G28V|HOXB3_ENST00000498678.1_Missense_Mutation_p.G28V|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G28V|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000485909.2_Intron	p.G28V			P14651	HXB3_HUMAN			1	1530	-			28					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Missense_Mutation	SNP	ENST00000470495.1	37	c.83G>T	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301237	0.40694	.	.	ENSG00000120093	ENST00000470495;ENST00000311626;ENST00000498678;ENST00000476342	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	3.94	2.95	0.34219	.	0.123452	0.53938	U	0.000054	D	0.92410	0.7591	L	0.56340	1.77	0.80722	D	1	D	0.58268	0.982	P	0.53450	0.726	D	0.92047	0.5645	10	0.52906	T	0.07	.	13.8671	0.63594	0.0:0.8458:0.1542:0.0	.	28	P14651	HXB3_HUMAN	V	28	ENSP00000417207:G28V;ENSP00000308252:G28V;ENSP00000420595:G28V;ENSP00000418892:G28V	ENSP00000308252:G28V	G	-	2	0	HOXB3	43984753	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.313000	0.59160	0.986000	0.38683	-0.304000	0.09214	GGC		0.652	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			44	262	1	0	1.89013e-27	1	2.18868e-27	44	262					A	46629754	C	A	46629754	3	1	79	1	0	0	0	0	1	0	0	0	7332	739	26	3	1220	3	HOXB3	17	46629754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1450	46629754	34565456	17422	27739											
HOXB5	3215	broad.mit.edu	37	chr17	46670671	46670671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgaaattggcgctggagCtggctgaggtcgcctggtcg	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46670671C>T	ENST00000239151.5	-	1	652	c.374G>A	c.(373-375)aGc>aAc	p.S125N	HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	125					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						GGCGCTGGAGCTGGCTGAGGT	0.682																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(373-375)aGc>aAc		homeobox B5							29	32	31					17																	46670671		2203	4300	6503	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670671C>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.374G>A	17.37:g.46670671C>T	ENSP00000239151:p.Ser125Asn					HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA	p.S125N	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	652	-			125					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.374G>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751490	0.15778	.	.	ENSG00000120075	ENST00000239151	D	0.92595	-3.07	5.31	4.34	0.51931	.	0.317667	0.37393	N	0.002101	D	0.90024	0.6885	M	0.65498	2.005	0.32462	N	0.544047	B	0.09022	0.002	B	0.09377	0.004	D	0.88061	0.2794	10	0.30078	T	0.28	.	13.4791	0.61326	0.0:0.9232:0.0:0.0768	.	125	P09067	HXB5_HUMAN	N	125	ENSP00000239151:S125N	ENSP00000239151:S125N	S	-	2	0	HOXB5	44025670	1.000000	0.71417	0.998000	0.56505	0.217000	0.24651	2.164000	0.42387	1.224000	0.43551	0.455000	0.32223	AGC		0.682	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			67	261	0	0	0	1	0	67	261					T	46670671	C	T	46670671	3	4	79	1	0	0	0	0	1	0	0	0	7334	797	28	2	443	2	HOXB5	17	46670671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40917	46670671	34524539	17423	27740											
HOXB7	3217	broad.mit.edu	37	chr17	46685370	46685370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatgcgccgccgccgcGtcaggtagcgattgtagtga	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46685370G>A	ENST00000239165.7	-	2	586	c.488C>T	c.(487-489)aCg>aTg	p.T163M	HOXB-AS3_ENST00000494420.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB7_ENST00000567101.2_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	163					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						CCGCCGCCGCGTCAGGTAGCG	0.557																																						ENST00000239165.7																			0				NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						c.(487-489)aCg>aTg		homeobox B7							96	97	97					17																	46685370		2203	4300	6503	SO:0001583	missense	3217					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46685370G>A		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.488C>T	17.37:g.46685370G>A	ENSP00000239165:p.Thr163Met					HOXB7_ENST00000567101.1_5'UTR	p.T163M	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN			2	586	-			163					A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	ENST00000239165.7	37	c.488C>T	CCDS11532.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837247	0.71373	.	.	ENSG00000120087	ENST00000239165	D	0.96265	-3.96	4.58	4.58	0.56647	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.065525	0.64402	D	0.000017	D	0.97914	0.9314	H	0.94503	3.545	0.80722	D	1	D	0.58268	0.982	P	0.50659	0.647	D	0.99494	1.0951	10	0.87932	D	0	.	17.1969	0.86895	0.0:0.0:1.0:0.0	.	163	P09629	HXB7_HUMAN	M	163	ENSP00000239165:T163M	ENSP00000239165:T163M	T	-	2	0	HOXB7	44040369	1.000000	0.71417	0.939000	0.37840	0.969000	0.65631	7.795000	0.85887	2.357000	0.79964	0.563000	0.77884	ACG		0.557	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358097.3			67	813	0	0	0	1	0	67	813					A	46685370	G	A	46685370	3	1	79	1	0	0	0	0	1	0	0	0	7336	1145	40	1	169	1	HOXB7	17	46685370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14699	46685370	34509840	17424	27741											
HOXB8	3218	broad.mit.edu	37	chr17	46691677	46691677	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggaagagctgtgtgggCgacgggctctgctcggagcc	19	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691677C>T	ENST00000239144.4	-	1	624	c.390G>A	c.(388-390)tcG>tcA	p.S130S	HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	130					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|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(8)|urinary_tract(2)	11						GCTGTGTGGGCGACGGGCTCT	0.726																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(388-390)tcG>tcA		homeobox B8							9	11	10					17																	46691677		2146	4227	6373	SO:0001819	synonymous_variant	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691677C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.390G>A	17.37:g.46691677C>T						HOXB8_ENST00000576562.1_Silent_p.S130S|HOXB7_ENST00000567101.1_Intron	p.S130S	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	624	-			130					Q9H1I2	Silent	SNP	ENST00000239144.4	37	c.390G>A	CCDS11533.1																																																																																				0.726	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			25	104	0	0	0	1	0	25	104					T	46691677	C	T	46691677	2	4	79	1	0	0	0	0	0	0	0	1	7337	755	27	1		1	HOXB8	17	46691677	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6307	46691677	34503533	17425	27742											
HOXB8	3218	broad.mit.edu	37	chr17	46691781	46691781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggatcctgcgcaccgaataGgctctggcgttgcagcgggt	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691781G>T	ENST00000239144.4	-	1	520	c.286C>A	c.(286-288)Cta>Ata	p.L96I	HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	96					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|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(8)|urinary_tract(2)	11						GCACCGAATAGGCTCTGGCGT	0.692																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(286-288)Cta>Ata		homeobox B8							51	50	51					17																	46691781		2203	4298	6501	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691781G>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.286C>A	17.37:g.46691781G>T	ENSP00000239144:p.Leu96Ile					HOXB8_ENST00000576562.1_Missense_Mutation_p.L96I|HOXB7_ENST00000567101.1_Intron	p.L96I	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	520	-			96					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.286C>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	g	13.25	2.181819	0.38511	.	.	ENSG00000120068	ENST00000239144	T	0.42900	0.96	2.97	2.97	0.34412	.	0.000000	0.50627	U	0.000116	T	0.47284	0.1437	L	0.31664	0.95	0.44635	D	0.997615	D	0.58268	0.982	D	0.67548	0.952	T	0.30995	-0.9959	10	0.19147	T	0.46	.	14.3989	0.67029	0.0:0.0:1.0:0.0	.	96	P17481	HXB8_HUMAN	I	96	ENSP00000239144:L96I	ENSP00000239144:L96I	L	-	1	2	HOXB8	44046780	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.894000	0.63206	1.685000	0.51034	0.290000	0.19541	CTA		0.692	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			67	317	1	0	2.10328e-26	1	2.42447e-26	67	317					T	46691781	G	T	46691781	3	4	79	1	0	0	0	0	1	0	0	0	7337	991	35	3	453	3	HOXB8	17	46691781	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104	46691781	34503429	17426	27743											
HOXB8	3218	broad.mit.edu	37	chr17	46691797	46691797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggctctggcgttgcagCgggtcgtagccgtagaaatt	14	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691797C>T	ENST00000239144.4	-	1	504	c.270G>A	c.(268-270)ccG>ccA	p.P90P	HOXB8_ENST00000576562.1_Silent_p.P90P|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	90					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|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(8)|urinary_tract(2)	11						GGCGTTGCAGCGGGTCGTAGC	0.687																																						ENST00000239144.4																			0				large_intestine(1)|lung(8)|urinary_tract(2)	11						c.(268-270)ccG>ccA		homeobox B8							49	49	49					17																	46691797		2203	4298	6501	SO:0001819	synonymous_variant	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46691797C>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.270G>A	17.37:g.46691797C>T						HOXB8_ENST00000576562.1_Silent_p.P90P|HOXB7_ENST00000567101.1_Intron	p.P90P	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN			1	504	-			90					Q9H1I2	Silent	SNP	ENST00000239144.4	37	c.270G>A	CCDS11533.1																																																																																				0.687	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			17	372	0	0	0	1	0	17	372					T	46691797	C	T	46691797	2	4	79	1	0	0	0	0	0	0	0	1	7337	755	27	1		1	HOXB8	17	46691797	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	46691797	34503413	17427	27744											
HOXB9	3219	broad.mit.edu	37	chr17	46703204	46703204	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagacagcacggcctccctgCccgccgaagtttccaaactg	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46703204C>A	ENST00000311177.5	-	1	635	c.428G>T	c.(427-429)gGc>gTc	p.G143V	HOXB9_ENST00000550387.1_Intron|HOXB-AS4_ENST00000480386.1_RNA|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	143					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						GGCCTCCCTGCCCGCCGAAGT	0.602																																						ENST00000311177.5																			0				breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						c.(427-429)gGc>gTc		homeobox B9							36	41	39					17																	46703204		2203	4300	6503	SO:0001583	missense	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703204C>A		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.428G>T	17.37:g.46703204C>A	ENSP00000309439:p.Gly143Val					HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_Intron	p.G143V	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN			1	635	-			143					B2RDB7|Q9H1I1	Missense_Mutation	SNP	ENST00000311177.5	37	c.428G>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390960	0.42410	.	.	ENSG00000170689	ENST00000311177	D	0.93712	-3.27	4.74	4.74	0.60224	Hox9, N-terminal activation domain (1);	0.123056	0.50627	D	0.000110	D	0.92645	0.7663	M	0.68952	2.095	0.80722	D	1	P	0.38048	0.616	B	0.42163	0.378	D	0.91624	0.5313	10	0.33940	T	0.23	.	13.9224	0.63940	0.0:0.7195:0.2805:0.0	.	143	P17482	HXB9_HUMAN	V	143	ENSP00000309439:G143V	ENSP00000309439:G143V	G	-	2	0	HOXB9	44058203	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.691000	0.25467	2.323000	0.78572	0.555000	0.69702	GGC		0.602	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			55	250	1	0	1.78197e-24	1	2.03739e-24	55	250					A	46703204	C	A	46703204	3	1	79	1	0	0	0	0	1	0	0	0	7338	739	26	3	332	3	HOXB9	17	46703204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11407	46703204	34492006	17428	27745											
TTLL6	284076	broad.mit.edu	37	chr17	46868909	46868909	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcaatatccctccatAtctgctccacgttgtagctg	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46868909A>G	ENST00000393382.3	-	9	1196	c.1055T>C	c.(1054-1056)aTa>aCa	p.I352T	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCCTCCATATCTGCTCCAC	0.547											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1054-1056)aTa>aCa		tubulin tyrosine ligase-like family, member 6							322	224	257					17																	46868909		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46868909A>G	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1055T>C	17.37:g.46868909A>G	ENSP00000377043:p.Ile352Thr		OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	TTLL6_ENST00000433608.2_Missense_Mutation_p.I45T	p.I352T	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			9	1196	-			304			TTL.			Missense_Mutation	SNP	ENST00000393382.3	37	c.1055T>C	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896390	0.72639	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.77	5.77	0.91146	.	0.271733	0.34110	N	0.004252	T	0.77274	0.4106	M	0.67700	2.07	0.40567	D	0.981267	P;D;D	0.71674	0.749;0.998;0.986	P;D;P	0.72625	0.657;0.978;0.76	T	0.80141	-0.1506	9	0.72032	D	0.01	.	15.3639	0.74503	1.0:0.0:0.0:0.0	.	304;105;45	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	T	352;45;30;304	.	ENSP00000302547:I45T	I	-	2	0	TTLL6	44223908	1.000000	0.71417	0.849000	0.33467	0.363000	0.29612	8.910000	0.92685	2.326000	0.78906	0.533000	0.62120	ATA		0.547	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		79	274	0	0	0	1	0	79	274					G	46868909	A	G	46868909	3	3	79	1	0	0	0	0	1	0	0	0	16785	449	16	4	1648	4	TTLL6	17	46868909	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	165705	46868909	34326301	17429	27746											
IGF2BP1	10642	broad.mit.edu	37	chr17	47075176	47075176	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttggagaaagtgtttgcGgagcacaagatctcctacag	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47075176G>A	ENST00000290341.3	+	1	403	c.69G>A	c.(67-69)gcG>gcA	p.A23A	IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	23	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						AAGTGTTTGCGGAGCACAAGA	0.602																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(67-69)gcG>gcA		insulin-like growth factor 2 mRNA binding protein 1							111	107	108					17																	47075176		2203	4300	6503	SO:0001819	synonymous_variant	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47075176G>A	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.69G>A	17.37:g.47075176G>A						IGF2BP1_ENST00000431824.2_Silent_p.A23A|IGF2BP1_ENST00000515586.1_3'UTR	p.A23A	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			1	403	+			23			RRM 1.		C9JT33	Silent	SNP	ENST00000290341.3	37	c.69G>A	CCDS11543.1																																																																																				0.602	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		139	484	0	0	0	1	0	139	484					A	47075176	G	A	47075176	2	1	79	1	0	0	0	0	0	0	0	1	7603	1103	39	1		1	IGF2BP1	17	47075176	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206267	47075176	34120034	17430	27747											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115652	47115652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggggctttggctctcgggGtcagccccgccagggctcac	16	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115652G>A	ENST00000290341.3	+	6	858	c.524G>A	c.(523-525)gGt>gAt	p.G175D	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	175					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						GGCTCTCGGGGTCAGCCCCGC	0.652																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(523-525)gGt>gAt		insulin-like growth factor 2 mRNA binding protein 1							30	36	34					17																	47115652		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115652G>A	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.524G>A	17.37:g.47115652G>A	ENSP00000290341:p.Gly175Asp					IGF2BP1_ENST00000431824.2_Intron	p.G175D	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			6	858	+			175					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.524G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785170	0.90282	.	.	ENSG00000159217	ENST00000290341	T	0.21361	2.01	5.55	5.55	0.83447	.	0.061482	0.64402	D	0.000005	T	0.32406	0.0828	M	0.66939	2.045	0.80722	D	1	P	0.48640	0.913	P	0.48030	0.564	T	0.04333	-1.0959	10	0.15952	T	0.53	-6.896	19.0998	0.93269	0.0:0.0:1.0:0.0	.	175	Q9NZI8	IF2B1_HUMAN	D	175	ENSP00000290341:G175D	ENSP00000290341:G175D	G	+	2	0	IGF2BP1	44470651	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.565000	0.73974	2.585000	0.87301	0.655000	0.94253	GGT		0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		72	290	0	0	0	1	0	72	290					A	47115652	G	A	47115652	3	1	79	1	0	0	0	0	1	0	0	0	7603	1261	44	2	546	2	IGF2BP1	17	47115652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40476	47115652	34079558	17431	27748											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115672	47115672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccccgccagggctcaCctgtggcagcgggggcccca	15	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115672C>T	ENST00000290341.3	+	6	878	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RNU6-826P_ENST00000516827.1_RNA|IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	182					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						CCAGGGCTCACCTGTGGCAGC	0.652																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(544-546)Cct>Tct		insulin-like growth factor 2 mRNA binding protein 1							23	28	27					17																	47115672		2203	4298	6501	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47115672C>T	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.544C>T	17.37:g.47115672C>T	ENSP00000290341:p.Pro182Ser					IGF2BP1_ENST00000431824.2_Intron	p.P182S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			6	878	+			182					C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.544C>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295090	0.60086	.	.	ENSG00000159217	ENST00000290341	T	0.20463	2.07	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	L	0.42744	1.35	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.08953	-1.0697	10	0.10377	T	0.69	-6.9982	19.0998	0.93269	0.0:1.0:0.0:0.0	.	182	Q9NZI8	IF2B1_HUMAN	S	182	ENSP00000290341:P182S	ENSP00000290341:P182S	P	+	1	0	IGF2BP1	44470671	1.000000	0.71417	0.693000	0.30195	0.993000	0.82548	6.029000	0.70895	2.585000	0.87301	0.655000	0.94253	CCT		0.652	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		58	233	0	0	0	1	0	58	233					T	47115672	C	T	47115672	3	4	79	1	0	0	0	0	1	0	0	0	7603	507	18	2	566	2	IGF2BP1	17	47115672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	47115672	34079538	17432	27749											
IGF2BP1	10642	broad.mit.edu	37	chr17	47123649	47123649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgcagaatttgacggcaGctgaggtggtagtaccaaga	14	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47123649G>A	ENST00000290341.3	+	14	1889	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	519	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGACGGCAGCTGAGGTGGT	0.547																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1555-1557)Gct>Act		insulin-like growth factor 2 mRNA binding protein 1							98	86	90					17																	47123649		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47123649G>A	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.1555G>A	17.37:g.47123649G>A	ENSP00000290341:p.Ala519Thr					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A380T	p.A519T	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			14	1889	+			519			KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1555G>A	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680623	0.96774	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.54071	0.59;0.59	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.81914	0.995;0.82	T	0.77747	-0.2472	10	0.66056	D	0.02	-13.076	19.5069	0.95121	0.0:0.0:1.0:0.0	.	380;519	C9JT33;Q9NZI8	.;IF2B1_HUMAN	T	519;380	ENSP00000290341:A519T;ENSP00000389135:A380T	ENSP00000290341:A519T	A	+	1	0	IGF2BP1	44478648	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.614000	0.98353	2.941000	0.99782	0.655000	0.94253	GCT		0.547	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		60	340	0	0	0	1	0	60	340					A	47123649	G	A	47123649	3	1	79	1	0	0	0	0	1	0	0	0	7603	971	34	2	1609	2	IGF2BP1	17	47123649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7977	47123649	34071561	17433	27750											
IGF2BP1	10642	broad.mit.edu	37	chr17	47126761	47126761	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcccaggttaagcagcaGcatcagaagggacagagtaa	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47126761G>T	ENST00000290341.3	+	15	2023	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H|AC105030.1_ENST00000578722.1_RNA	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	563	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTAAGCAGCAGCATCAGAAGG	0.577																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1687-1689)caG>caT		insulin-like growth factor 2 mRNA binding protein 1							128	93	105					17																	47126761		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47126761G>T	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.1689G>T	17.37:g.47126761G>T	ENSP00000290341:p.Gln563His					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q424H	p.Q563H	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			15	2023	+			563			Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1689G>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127641	0.20959	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33654	2.14;1.4	5.0	4.03	0.46877	.	0.139400	0.49916	D	0.000134	T	0.30417	0.0764	L	0.47716	1.5	0.48511	D	0.999665	P;B	0.46277	0.875;0.005	B;B	0.41510	0.359;0.009	T	0.04153	-1.0973	10	0.26408	T	0.33	-15.2867	10.7342	0.46115	0.0899:0.0:0.9101:0.0	.	424;563	C9JT33;Q9NZI8	.;IF2B1_HUMAN	H	563;424	ENSP00000290341:Q563H;ENSP00000389135:Q424H	ENSP00000290341:Q563H	Q	+	3	2	IGF2BP1	44481760	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.254000	0.43214	1.451000	0.47736	0.563000	0.77884	CAG		0.577	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		14	145	1	0	1.5739e-10	1	1.67034e-10	14	145					T	47126761	G	T	47126761	3	4	79	1	0	0	0	0	1	0	0	0	7603	962	34	3	1747	3	IGF2BP1	17	47126761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3112	47126761	34068449	17434	27751											
ZNF652	22834	broad.mit.edu	37	chr17	47376251	47376251	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggggcggctggtgaagcTtttgccacagatttcacaga	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47376251T>G	ENST00000362063.2	-	6	1663	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			CTGGTGAAGCTTTTGCCACAG	0.463																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1345-1347)Agc>Cgc		zinc finger protein 652							51	50	50					17																	47376251		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47376251T>G	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.1345A>C	17.37:g.47376251T>G	ENSP00000354686:p.Ser449Arg					ZNF652_ENST00000430262.2_Missense_Mutation_p.S449R	p.S449R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		6	1663	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		449					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.1345A>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801187	0.70567	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08193	3.12;3.12	4.81	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.041428	0.85682	D	0.000000	T	0.12178	0.0296	N	0.25992	0.78	0.49915	D	0.999832	D	0.56746	0.977	P	0.59357	0.856	T	0.03566	-1.1024	10	0.51188	T	0.08	-15.5289	8.741	0.34558	0.0:0.157:0.0:0.843	.	449	Q9Y2D9	ZN652_HUMAN	R	449	ENSP00000354686:S449R;ENSP00000416305:S449R	ENSP00000354686:S449R	S	-	1	0	ZNF652	44731250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.847000	0.86896	0.351000	0.24027	0.402000	0.26972	AGC		0.463	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		58	197	0	0	0	1	0	58	197					G	47376251	T	G	47376251	3	3	79	1	0	0	0	0	1	0	0	0	18118	1609	56	4	479	4	ZNF652	17	47376251	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	249490	47376251	33818959	17435	27752											
ZNF652	22834	broad.mit.edu	37	chr17	47394317	47394317	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcttctccaggtaccaGcgagtgttaaataccctggg	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394317G>A	ENST00000362063.2	-	2	1089	c.771C>T	c.(769-771)cgC>cgT	p.R257R	ZNF652_ENST00000430262.2_Silent_p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	257					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)			CCAGGTACCAGCGAGTGTTAA	0.498																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(769-771)cgC>cgT		zinc finger protein 652							175	147	157					17																	47394317		2203	4300	6503	SO:0001819	synonymous_variant	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394317G>A	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.771C>T	17.37:g.47394317G>A						ZNF652_ENST00000430262.2_Silent_p.R257R	p.R257R	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1089	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		257					A4QPD9|Q5H9Q0	Silent	SNP	ENST00000362063.2	37	c.771C>T	CCDS32677.1																																																																																				0.498	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		101	390	0	0	0	1	0	101	390					A	47394317	G	A	47394317	2	1	79	1	0	0	0	0	0	0	0	1	18118	958	34	2		2	ZNF652	17	47394317	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18066	47394317	33800893	17436	27753											
ZNF652	22834	broad.mit.edu	37	chr17	47394342	47394342	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaataccctggggcacTtctcacaggtcagagtctct	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394342T>G	ENST00000362063.2	-	2	1064	c.746A>C	c.(745-747)aAg>aCg	p.K249T	ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			CCTGGGGCACTTCTCACAGGT	0.488																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(745-747)aAg>aCg		zinc finger protein 652							174	146	155					17																	47394342		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394342T>G	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.746A>C	17.37:g.47394342T>G	ENSP00000354686:p.Lys249Thr					ZNF652_ENST00000430262.2_Missense_Mutation_p.K249T	p.K249T	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	1064	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		249					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.746A>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833468	0.71258	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.52295	0.67;0.67	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	N	0.11789	0.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.60895	-0.7172	10	0.66056	D	0.02	-21.598	15.4338	0.75125	0.0:0.0:0.0:1.0	.	249	Q9Y2D9	ZN652_HUMAN	T	249	ENSP00000354686:K249T;ENSP00000416305:K249T	ENSP00000354686:K249T	K	-	2	0	ZNF652	44749341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.132000	0.65825	0.533000	0.62120	AAG		0.488	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		44	417	0	0	0	1	0	44	417					G	47394342	T	G	47394342	3	3	79	1	0	0	0	0	1	0	0	0	18118	1609	56	4	1094	4	ZNF652	17	47394342	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25	47394342	33800868	17437	27754											
ZNF652	22834	broad.mit.edu	37	chr17	47394623	47394623	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttcctcactctcttcCtcttcctcctcactgcttgt	3	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394623C>A	ENST00000362063.2	-	2	783	c.465G>T	c.(463-465)gaG>gaT	p.E155D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	155	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			CACTCTCTTCCTCTTCCTCCT	0.413																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(463-465)gaG>gaT		zinc finger protein 652							142	150	147					17																	47394623		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394623C>A	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.465G>T	17.37:g.47394623C>A	ENSP00000354686:p.Glu155Asp					ZNF652_ENST00000430262.2_Missense_Mutation_p.E155D	p.E155D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	783	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		155			Glu-rich.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.465G>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454423	0.12283	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98947	-5.26;-5.26	5.22	3.17	0.36434	.	0.261665	0.44688	N	0.000430	D	0.94673	0.8282	L	0.29908	0.895	0.34843	D	0.740911	B	0.02656	0.0	B	0.06405	0.002	D	0.91675	0.5353	10	0.15499	T	0.54	-18.6572	5.9346	0.19158	0.1395:0.6514:0.1349:0.0741	.	155	Q9Y2D9	ZN652_HUMAN	D	155	ENSP00000354686:E155D;ENSP00000416305:E155D	ENSP00000354686:E155D	E	-	3	2	ZNF652	44749622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.287000	0.33284	1.404000	0.46819	0.655000	0.94253	GAG		0.413	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		19	1030	1	0	8.60227e-14	1	9.30909e-14	19	1030					A	47394623	C	A	47394623	3	1	79	1	0	0	0	0	1	0	0	0	18118	680	24	3	1375	3	ZNF652	17	47394623	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	281	47394623	33800587	17438	27755											
PHB	5245	broad.mit.edu	37	chr17	47486797	47486797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctggctggcgacaggccGgaagaggatgcgcagtgtga	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47486797G>A	ENST00000300408.3	-	4	361	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Missense_Mutation_p.R97W|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	97					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)			GCGACAGGCCGGAAGAGGATG	0.483																																						ENST00000300408.3																			0				endometrium(4)|large_intestine(2)|lung(4)	10						c.(289-291)Cgg>Tgg		prohibitin							83	83	83					17																	47486797		2203	4300	6503	SO:0001583	missense	5245				cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding	g.chr17:47486797G>A		CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.289C>T	17.37:g.47486797G>A	ENSP00000300408:p.Arg97Trp					PHB_ENST00000511832.1_Missense_Mutation_p.R97W|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000508009.1_5'UTR	p.R97W	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		4	361	-	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		97					B4DY47|Q4VBQ0	Missense_Mutation	SNP	ENST00000300408.3	37	c.289C>T	CCDS11548.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985805	0.53934	.	.	ENSG00000167085	ENST00000300408;ENST00000511832;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735;ENST00000434917	D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	M	0.78916	2.43	0.80722	D	1	B	0.31680	0.335	B	0.33454	0.164	D	0.94256	0.7498	10	0.59425	D	0.04	.	13.1005	0.59218	0.0:0.0:0.7967:0.2033	.	97	P35232	PHB_HUMAN	W	97	ENSP00000300408:R97W;ENSP00000425035:R97W;ENSP00000393320:R97W;ENSP00000426433:R97W;ENSP00000422182:R97W;ENSP00000407828:R97W;ENSP00000410680:R97W	ENSP00000300408:R97W	R	-	1	2	PHB	44841796	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.076000	0.57591	2.350000	0.79820	0.462000	0.41574	CGG		0.483	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258826.1	NM_002634		58	302	0	0	0	1	0	58	302					A	47486797	G	A	47486797	3	1	79	1	0	0	0	0	1	0	0	0	11856	1115	39	1	545	1	PHB	17	47486797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92174	47486797	33708413	17439	27756											
NGFR	4804	broad.mit.edu	37	chr17	47590307	47590307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctggccgccctgcgccGcatccagcgagccgacctcg	11	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47590307G>A	ENST00000172229.3	+	6	1345	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	NGFR_ENST00000504201.1_Missense_Mutation_p.R313H|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	407	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)					GCCCTGCGCCGCATCCAGCGA	0.701																																						ENST00000172229.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17						c.(1219-1221)cGc>cAc		nerve growth factor receptor							15	15	15					17																	47590307		2189	4284	6473	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47590307G>A	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.1220G>A	17.37:g.47590307G>A	ENSP00000172229:p.Arg407His					RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Missense_Mutation_p.R313H	p.R407H	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN			6	1345	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		407			Death.		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.1220G>A	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683884	0.88639	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.85484	-1.99;-1.99	4.55	3.56	0.40772	Death (3);DEATH-like (2);	0.583643	0.16384	N	0.216771	D	0.83820	0.5337	L	0.33485	1.01	0.38279	D	0.942384	D	0.71674	0.998	P	0.61533	0.89	T	0.82532	-0.0410	10	0.42905	T	0.14	-40.3266	5.5062	0.16856	0.2816:0.0:0.7184:0.0	.	407	P08138	TNR16_HUMAN	H	407;313	ENSP00000172229:R407H;ENSP00000421731:R313H	ENSP00000172229:R407H	R	+	2	0	NGFR	44945306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.814000	0.48010	2.233000	0.73108	0.561000	0.74099	CGC		0.701	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			26	147	0	0	0	1	0	26	147					A	47590307	G	A	47590307	3	1	79	1	0	0	0	0	1	0	0	0	10438	1087	38	1	1242	1	NGFR	17	47590307	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103510	47590307	33604903	17440	27757											
FAM117A	81558	broad.mit.edu	37	chr17	47841426	47841426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggcacctccgcctctGccgcccgctgcggcccccgc	10	25	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47841426G>A	ENST00000240364.2	-	1	103	c.24C>T	c.(22-24)ggC>ggT	p.G8G	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	8										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ctccgcctctgccgcccgctg	0.801																																						ENST00000240364.2																			0				haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						c.(22-24)ggC>ggT		family with sequence similarity 117, member A							5	7	6					17																	47841426		980	2175	3155	SO:0001819	synonymous_variant	81558							g.chr17:47841426G>A	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.24C>T	17.37:g.47841426G>A						FAM117A_ENST00000513602.1_Intron|FAM117A_ENST00000514018.1_Intron	p.G8G	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN			1	103	-			8					B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.24C>T	CCDS11553.1																																																																																				0.801	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		7	59	0	0	0	1	0	7	59					A	47841426	G	A	47841426	2	1	79	1	0	0	0	0	0	0	0	1	5430	1306	46	2		2	FAM117A	17	47841426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	251119	47841426	33353784	17441	27758											
MYST2	11143	broad.mit.edu	37	chr17	47875874	47875874	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtcgcttccatgaaagCtacaacttcaatatgaagtg	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47875874C>T	ENST00000259021.4	+	4	814	c.534C>T	c.(532-534)agC>agT	p.S178S	KAT7_ENST00000503935.2_Silent_p.S22S|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000435742.2_Silent_p.S22S|KAT7_ENST00000424009.2_Silent_p.S178S|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000510819.1_Intron	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	178					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)										TCCATGAAAGCTACAACTTCA	0.507																																						ENST00000503935.2																			0											c.(64-66)agC>agT		K(lysine) acetyltransferase 7							127	114	119					17																	47875874		2203	4300	6503	SO:0001819	synonymous_variant	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47875874C>T	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.534C>T	17.37:g.47875874C>T						KAT7_ENST00000510819.1_Intron|KAT7_ENST00000424009.2_Silent_p.S178S|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_Silent_p.S22S|KAT7_ENST00000259021.4_Silent_p.S178S|KAT7_ENST00000509773.1_Intron	p.S22S			O95251	MYST2_HUMAN			4	1102	+			178			Ser-rich.		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	ENST00000259021.4	37	c.66C>T	CCDS11554.1																																																																																				0.507	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		89	435	0	0	0	1	0	89	435					T	47875874	C	T	47875874	2	4	79	1	0	0	0	0	0	0	0	1	10144	796	28	2		2	MYST2	17	47875874	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34448	47875874	33319336	17442	27759											
ITGA3	3675	broad.mit.edu	37	chr17	48156190	48156190	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccttcttacccctagggTaaatcaccggctacaaagct	6	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48156190T>C	ENST00000320031.8	+	19	2630	c.2300T>C	c.(2299-2301)gTa>gCa	p.V767A	ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	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)	767					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						ACCCCTAGGGTAAATCACCGG	0.557																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2299-2301)gTa>gCa		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							91	96	94					17																	48156190		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48156190T>C	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.2300T>C	17.37:g.48156190T>C	ENSP00000315190:p.Val767Ala					ITGA3_ENST00000007722.7_Missense_Mutation_p.V767A	p.V767A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			19	2630	+			767					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.2300T>C	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685036	0.29872	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.52057	0.68;0.68	4.53	3.4	0.38934	Integrin alpha-2 (1);	0.842530	0.10865	N	0.625632	T	0.36991	0.0987	L	0.37697	1.125	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.007	T	0.09596	-1.0667	10	0.34782	T	0.22	.	8.3475	0.32281	0.1758:0.0:0.0:0.8242	.	767;767	P26006-1;P26006	.;ITA3_HUMAN	A	767;753;767	ENSP00000007722:V767A;ENSP00000315190:V767A	ENSP00000007722:V767A	V	+	2	0	ITGA3	45511189	0.998000	0.40836	0.992000	0.48379	0.805000	0.45488	1.301000	0.33447	0.830000	0.34757	0.402000	0.26972	GTA		0.557	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		21	623	0	0	0	1	0	21	623					C	48156190	T	C	48156190	3	2	79	1	0	0	0	0	1	0	0	0	7907	1638	57	4	2374	4	ITGA3	17	48156190	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	280316	48156190	33039020	17443	27760											
ITGA3	3675	broad.mit.edu	37	chr17	48158697	48158697	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tacagagactttgaccgagtCcgggtaaatggctgggctac	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48158697C>A	ENST00000320031.8	+	23	3174	c.2844C>A	c.(2842-2844)gtC>gtA	p.V948V	ITGA3_ENST00000007722.7_Silent_p.V948V	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)	948					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						TTGACCGAGTCCGGGTAAATG	0.547																																						ENST00000320031.8																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						c.(2842-2844)gtC>gtA		integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)							83	61	68					17																	48158697		2203	4298	6501	SO:0001819	synonymous_variant	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48158697C>A	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.2844C>A	17.37:g.48158697C>A						ITGA3_ENST00000007722.7_Silent_p.V948V	p.V948V	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN			23	3174	+			948					A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	ENST00000320031.8	37	c.2844C>A	CCDS11558.1																																																																																				0.547	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		7	47	1	0	0.00448238	1	0.00451339	7	47					A	48158697	C	A	48158697	2	1	79	1	0	0	0	0	0	0	0	1	7907	842	30	3		3	ITGA3	17	48158697	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2507	48158697	33036513	17444	27761											
PDK2	5164	broad.mit.edu	37	chr17	48172856	48172856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaggggcgcccaagtaCatagagcacttcagcaagtt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48172856C>T	ENST00000503176.1	+	1	218	c.57C>T	c.(55-57)taC>taT	p.Y19Y	PDK2_ENST00000007708.3_Intron	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	19					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						CGCCCAAGTACATAGAGCACT	0.677									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(55-57)taC>taT		pyruvate dehydrogenase kinase, isozyme 2							32	34	33					17																	48172856		2203	4299	6502	SO:0001819	synonymous_variant	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48172856C>T	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.57C>T	17.37:g.48172856C>T						PDK2_ENST00000007708.3_Intron	p.Y19Y	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			1	218	+			19					A8K3A7|B3KNW0|Q6P515|Q9BS05	Silent	SNP	ENST00000503176.1	37	c.57C>T	CCDS11559.1																																																																																				0.677	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		17	63	0	0	0	1	0	17	63					T	48172856	C	T	48172856	2	4	79	1	0	0	0	0	0	0	0	1	11718	489	17	2		2	PDK2	17	48172856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14159	48172856	33022354	17445	27762											
PDK2	5164	broad.mit.edu	37	chr17	48185696	48185696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcagaatgccatgagggCgactgtggaaagccatgagt	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48185696C>T	ENST00000503176.1	+	8	937	c.776C>T	c.(775-777)gCg>gTg	p.A259V	PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	259	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				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						GCCATGAGGGCGACTGTGGAA	0.587									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(775-777)gCg>gTg		pyruvate dehydrogenase kinase, isozyme 2							80	69	72					17																	48185696		2203	4300	6503	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48185696C>T	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.776C>T	17.37:g.48185696C>T	ENSP00000420927:p.Ala259Val					PDK2_ENST00000007708.3_Missense_Mutation_p.A195V	p.A259V	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			8	937	+			259			Histidine kinase.		A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.776C>T	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330950	0.95733	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	T;T;T	0.58210	0.35;0.35;0.35	4.61	4.61	0.57282	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.124501	0.53938	D	0.000055	D	0.82582	0.5068	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.64237	0.923	D	0.90403	0.4404	10	0.87932	D	0	-6.9618	16.633	0.85039	0.0:1.0:0.0:0.0	.	259	Q15119	PDK2_HUMAN	V	195;259;195	ENSP00000007708:A195V;ENSP00000420927:A259V;ENSP00000425265:A195V	ENSP00000007708:A195V	A	+	2	0	PDK2	45540695	1.000000	0.71417	0.471000	0.27229	0.867000	0.49689	7.734000	0.84928	2.289000	0.77006	0.555000	0.69702	GCG		0.587	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		32	113	0	0	0	1	0	32	113					T	48185696	C	T	48185696	3	4	79	1	0	0	0	0	1	0	0	0	11718	768	27	1	806	1	PDK2	17	48185696	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12840	48185696	33009514	17446	27763											
PDK2	5164	broad.mit.edu	37	chr17	48187434	48187434	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgcccagcacggagcccaaGaacacgtccacgtaccgcgt	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48187434G>T	ENST00000503176.1	+	11	1358	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	SAMD14_ENST00000330175.4_3'UTR|PDK2_ENST00000007708.3_Missense_Mutation_p.K335N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	399					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						CGGAGCCCAAGAACACGTCCA	0.667									Autosomal Dominant Polycystic Kidney Disease																													ENST00000503176.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(1195-1197)aaG>aaT		pyruvate dehydrogenase kinase, isozyme 2							42	39	40					17																	48187434		2202	4299	6501	SO:0001583	missense	5164	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr17:48187434G>T	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.1197G>T	17.37:g.48187434G>T	ENSP00000420927:p.Lys399Asn					PDK2_ENST00000007708.3_Missense_Mutation_p.K335N|SAMD14_ENST00000330175.4_3'UTR	p.K399N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN			11	1358	+			399					A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	c.1197G>T	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076449	0.55753	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.48522	0.82;0.81	4.46	4.46	0.54185	.	0.244342	0.34507	N	0.003917	T	0.44030	0.1274	L	0.48642	1.525	0.80722	D	1	B	0.23316	0.083	B	0.19666	0.026	T	0.46665	-0.9175	10	0.66056	D	0.02	-22.2114	16.2651	0.82574	0.0:0.0:1.0:0.0	.	399	Q15119	PDK2_HUMAN	N	335;399	ENSP00000007708:K335N;ENSP00000420927:K399N	ENSP00000007708:K335N	K	+	3	2	PDK2	45542433	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	6.400000	0.73252	2.203000	0.70933	0.462000	0.41574	AAG		0.667	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611		13	62	1	0	1.5842e-08	1	1.65642e-08	13	62					T	48187434	G	T	48187434	3	4	79	1	0	0	0	0	1	0	0	0	11718	933	33	3	1239	3	PDK2	17	48187434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1738	48187434	33007776	17447	27764											
SAMD14	201191	broad.mit.edu	37	chr17	48193388	48193388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtccaggaactttcggCgagtcttcttatcgaggccg	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48193388C>T	ENST00000330175.4	-	5	883	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	189										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAACTTTCGGCGAGTCTTCTT	0.627																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(565-567)cGc>cAc		sterile alpha motif domain containing 14							48	45	46					17																	48193388		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48193388C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.566G>A	17.37:g.48193388C>T	ENSP00000329144:p.Arg189His					SAMD14_ENST00000503131.1_Missense_Mutation_p.R189H|SAMD14_ENST00000503734.1_5'UTR	p.R189H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			5	883	-			189					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.566G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323128	0.60634	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.17	5.17	0.71159	.	0.100684	0.35407	N	0.003229	T	0.71937	0.3399	L	0.54323	1.7	0.35594	D	0.807347	D;D	0.89917	0.999;1.0	D;D	0.83275	0.912;0.996	T	0.79773	-0.1662	9	0.87932	D	0	-17.7595	15.5892	0.76512	0.0:1.0:0.0:0.0	.	189;189	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	189;201;189	.	ENSP00000285206:R201H	R	-	2	0	SAMD14	45548387	1.000000	0.71417	0.995000	0.50966	0.258000	0.26162	2.982000	0.49337	2.417000	0.82017	0.313000	0.20887	CGC		0.627	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		43	196	0	0	0	1	0	43	196					T	48193388	C	T	48193388	3	4	79	1	0	0	0	0	1	0	0	0	13869	768	27	1	799	1	SAMD14	17	48193388	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5954	48193388	33001822	17448	27765											
PPP1R9B	84687	broad.mit.edu	37	chr17	48216883	48216883	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctcaaacacctcgatggCcatctcaccacccgggaacg	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48216883C>T	ENST00000316878.6	-	8	1926	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	642	Interacts with TGN38. {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						ACCTCGATGGCCATCTCACCA	0.622																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1924-1926)Gcc>Acc		protein phosphatase 1, regulatory subunit 9B							137	151	146					17																	48216883		2171	4262	6433	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48216883C>T	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.1924G>A	17.37:g.48216883C>T	ENSP00000475417:p.Ala642Thr					PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.A642T	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			8	1926	-			642			Interacts with TGN38 (By similarity).		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1924G>A																																																																																					0.622	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		148	584	0	0	0	1	0	148	584					T	48216883	C	T	48216883	3	4	79	1	0	0	0	0	1	0	0	0	12426	739	26	2	543	2	PPP1R9B	17	48216883	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23495	48216883	32978327	17449	27766											
PPP1R9B	84687	broad.mit.edu	37	chr17	48218701	48218701	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactcccaccagacttgTtccatccacctccaccagga	6	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48218701T>G	ENST00000316878.6	-	6	1659	c.1657A>C	c.(1657-1659)Aca>Cca	p.T553P	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	553	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCAGACTTGTTCCATCCACC	0.627																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1657-1659)Aca>Cca		protein phosphatase 1, regulatory subunit 9B							50	53	52					17																	48218701		2048	4181	6229	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48218701T>G	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.1657A>C	17.37:g.48218701T>G	ENSP00000475417:p.Thr553Pro					PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	p.T553P	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			6	1659	-			553			PDZ.		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1657A>C																																																																																					0.627	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		12	35	0	0	0	1	0	12	35					G	48218701	T	G	48218701	3	3	79	1	0	0	0	0	1	0	0	0	12426	1725	60	4	818	4	PPP1R9B	17	48218701	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1818	48218701	32976509	17450	27767											
SGCA	6442	broad.mit.edu	37	chr17	48252742	48252742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgtgcacacaggtgagCggctgcctccccgcgtggac	13	14	1	1	rs368243053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48252742C>T	ENST00000262018.3	+	9	1144	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	370					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						CACAGGTGAGCGGCTGCCTCC	0.652																																						ENST00000262018.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.(1108-1110)Cgg>Tgg		sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	35	32	33		1108,736	3.6	1	17		33	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SGCA	NM_000023.2,NM_001135697.1	101,101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	370/388,246/264	48252742	1,13003	2203	4299	6502	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48252742C>T	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.1108C>T	17.37:g.48252742C>T	ENSP00000262018:p.Arg370Trp					SGCA_ENST00000543315.1_Missense_Mutation_p.R246W|SGCA_ENST00000344627.6_Missense_Mutation_p.R246W|HILS1_ENST00000504307.1_RNA|SGCA_ENST00000513942.1_3'UTR	p.R370W	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN			9	1144	+			370					A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.1108C>T	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.17|14.17	2.454366|2.454366	0.43634|0.43634	0.0|0.0	1.16E-4|1.16E-4	ENSG00000108823|ENSG00000108823	ENST00000504073|ENST00000344627;ENST00000262018;ENST00000543315	.|D;D;D	.|0.98192	.|-4.78;-4.78;-4.78	4.63|4.63	3.57|3.57	0.40892|0.40892	.|.	.|0.131881	.|0.46145	.|D	.|0.000315	D|D	0.97620|0.97620	0.9220|0.9220	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.56916	.|0.809;0.786	D|D	0.96109|0.96109	0.9075|0.9075	5|10	.|0.37606	.|T	.|0.19	-25.8703|-25.8703	10.1205|10.1205	0.42618|0.42618	0.3714:0.6285:0.0:0.0|0.3714:0.6285:0.0:0.0	.|.	.|246;370	.|Q16586-2;Q16586	.|.;SGCA_HUMAN	V|W	142|246;370;246	.|ENSP00000345522:R246W;ENSP00000262018:R370W;ENSP00000444539:R246W	.|ENSP00000262018:R370W	A|R	+|+	2|1	0|2	SGCA|SGCA	45607741|45607741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.054000|0.054000	0.15201|0.15201	1.386000|1.386000	0.34419|0.34419	2.279000|2.279000	0.76181|0.76181	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.652	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		32	140	0	0	0	1	0	32	140					T	48252742	C	T	48252742	3	4	79	1	0	0	0	0	1	0	0	0	14249	759	27	1	1142	1	SGCA	17	48252742	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34041	48252742	32942468	17451	27768											
COL1A1	1277	broad.mit.edu	37	chr17	48263816	48263816	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagtctccatgttgcagaaGactttgatggcatccaggtt	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48263816G>A	ENST00000225964.5	-	49	3985	c.3867C>T	c.(3865-3867)gtC>gtT	p.V1289V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1289	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TGTTGCAGAAGACTTTGATGG	0.567			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3865-3867)gtC>gtT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						134	127	129					17																	48263816		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263816G>A	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.3867C>T	17.37:g.48263816G>A							p.V1289V	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			49	3985	-			1289			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.3867C>T	CCDS11561.1																																																																																				0.567	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			116	432	0	0	0	1	0	116	432					A	48263816	G	A	48263816	2	1	79	1	0	0	0	0	0	0	0	1	3686	929	33	2		2	COL1A1	17	48263816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11074	48263816	32931394	17452	27769											
COL1A1	1277	broad.mit.edu	37	chr17	48264896	48264896	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaccttgttcaccaggagaGccctgaaggacagataaaaa	11	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264896G>T	ENST00000225964.5	-	46	3490	c.3372C>A	c.(3370-3372)ggC>ggA	p.G1124G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1124	Triple-helical region.		G -> C (in OI2). {ECO:0000269|PubMed:7961597}.		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)	CACCAGGAGAGCCCTGAAGGA	0.587			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3370-3372)ggC>ggA		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						62	56	58					17																	48264896		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264896G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3372C>A	17.37:g.48264896G>T							p.G1124G	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			46	3490	-			1124		G -> C (in OI2A).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.3372C>A	CCDS11561.1																																																																																				0.587	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			28	133	1	0	1.39806e-14	1	1.52044e-14	28	133					T	48264896	G	T	48264896	2	4	79	1	0	0	0	0	0	0	0	1	3686	958	34	3		3	COL1A1	17	48264896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1080	48264896	32930314	17453	27770											
XYLT2	64132	broad.mit.edu	37	chr17	48434506	48434506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacgcaggcggtgcagCcctcagcccaggggccggca	17	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48434506C>T	ENST00000017003.2	+	9	1883	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	612					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGCGGTGCAGCCCTCAGCCCA	0.642																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(1834-1836)Ccc>Tcc		xylosyltransferase II							43	44	44					17																	48434506		2203	4300	6503	SO:0001583	missense	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48434506C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1834C>T	17.37:g.48434506C>T	ENSP00000017003:p.Pro612Ser					XYLT2_ENST00000507602.1_Missense_Mutation_p.P612S	p.P612S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			9	1883	+	Breast(11;7.18e-19)		612					Q6UY41|Q86V00	Missense_Mutation	SNP	ENST00000017003.2	37	c.1834C>T	CCDS11563.1	.	.	.	.	.	.	.	.	.	.	C	2.753	-0.259545	0.05791	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.07216	3.75;3.21	4.92	2.94	0.34122	.	0.530450	0.21212	N	0.078289	T	0.02727	0.0082	N	0.03608	-0.345	0.29134	N	0.879486	B	0.02656	0.0	B	0.04013	0.001	T	0.42050	-0.9474	10	0.08381	T	0.77	-11.76	4.6835	0.12747	0.2167:0.6042:0.0:0.1791	.	612	Q9H1B5	XYLT2_HUMAN	S	612	ENSP00000017003:P612S;ENSP00000426501:P612S	ENSP00000017003:P612S	P	+	1	0	XYLT2	45789505	0.986000	0.35501	1.000000	0.80357	0.930000	0.56654	1.831000	0.39141	0.681000	0.31386	0.655000	0.94253	CCC		0.642	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		39	183	0	0	0	1	0	39	183					T	48434506	C	T	48434506	3	4	79	1	0	0	0	0	1	0	0	0	17518	739	26	2	1868	2	XYLT2	17	48434506	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	169610	48434506	32760704	17454	27771											
XYLT2	64132	broad.mit.edu	37	chr17	48437340	48437340	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacccacagatgatgccagCtggctgcacgcagggccacc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48437340C>T	ENST00000017003.2	+	11	2335	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	762					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGATGCCAGCTGGCTGCACG	0.632																																						ENST00000017003.2																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(2284-2286)agC>agT		xylosyltransferase II							39	27	31					17																	48437340		2201	4298	6499	SO:0001819	synonymous_variant	64132				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr17:48437340C>T	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.2286C>T	17.37:g.48437340C>T						XYLT2_ENST00000507602.1_Intron	p.S762S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN			11	2335	+	Breast(11;7.18e-19)		762					Q6UY41|Q86V00	Silent	SNP	ENST00000017003.2	37	c.2286C>T	CCDS11563.1																																																																																				0.632	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	NM_022167		15	68	0	0	0	1	0	15	68					T	48437340	C	T	48437340	2	4	79	1	0	0	0	0	0	0	0	1	17518	796	28	2		2	XYLT2	17	48437340	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2834	48437340	32757870	17455	27772											
LRRC59	55379	broad.mit.edu	37	chr17	48474609	48474609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacctcattcaggtcgctgaGgctcaggtccagttcgttgc	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48474609G>T	ENST00000225972.7	-	1	305	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I|RP1-117B12.4_ENST00000511627.1_RNA	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	24						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTCGCTGAGGCTCAGGTCC	0.697											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225972.7																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						c.(70-72)Ctc>Atc		leucine rich repeat containing 59							83	74	77					17																	48474609		2203	4300	6503	SO:0001583	missense	55379					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding	g.chr17:48474609G>T	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.70C>A	17.37:g.48474609G>T	ENSP00000225972:p.Leu24Ile		OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	RP1-117B12.4_ENST00000511627.1_RNA|LRRC59_ENST00000576448.1_Missense_Mutation_p.L24I	p.L24I	NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.43e-08)		1	305	-	Breast(11;5.62e-19)		24					B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	c.70C>A	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769440	0.90020	.	.	ENSG00000108829	ENST00000225972	T	0.02421	4.3	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.15975	0.35	0.58432	D	0.999996	D	0.67145	0.996	D	0.70016	0.967	T	0.61471	-0.7056	10	0.23302	T	0.38	.	14.2164	0.65795	0.0715:0.0:0.9285:0.0	.	24	Q96AG4	LRC59_HUMAN	I	24	ENSP00000225972:L24I	ENSP00000225972:L24I	L	-	1	0	LRRC59	45829608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.457000	0.73505	2.808000	0.96608	0.655000	0.94253	CTC		0.697	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2	NM_018509		87	401	1	0	5.52034e-35	1	6.58082e-35	87	401					T	48474609	G	T	48474609	3	4	79	1	0	0	0	0	1	0	0	0	9053	1000	35	3	881	3	LRRC59	17	48474609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37269	48474609	32720601	17456	27773											
ACSF2	80221	broad.mit.edu	37	chr17	48539874	48539874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggctggcagcacacggcaGcatctggaccagctccaata	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48539874G>T	ENST00000300441.4	+	6	824	c.720G>T	c.(718-720)caG>caT	p.Q240H	ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000427954.2_Missense_Mutation_p.Q265H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	240					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)			GCACACGGCAGCATCTGGACC	0.617																																						ENST00000427954.2																			0				endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13						c.(793-795)caG>caT		acyl-CoA synthetase family member 2							89	75	80					17																	48539874		2203	4300	6503	SO:0001583	missense	80221				fatty acid metabolic process	mitochondrion	ATP binding|ligase activity	g.chr17:48539874G>T	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.720G>T	17.37:g.48539874G>T	ENSP00000300441:p.Gln240His					ACSF2_ENST00000504392.1_Missense_Mutation_p.Q197H|ACSF2_ENST00000502667.1_Missense_Mutation_p.Q227H|ACSF2_ENST00000541920.1_Missense_Mutation_p.Q80H|ACSF2_ENST00000300441.4_Missense_Mutation_p.Q240H	p.Q265H			Q96CM8	ACSF2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		7	838	+	Breast(11;1.93e-18)		240					B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	ENST00000300441.4	37	c.795G>T	CCDS11567.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340395	0.41498	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.39592	1.21;1.26;1.07;1.22;1.33	5.57	4.6	0.57074	AMP-dependent synthetase/ligase (1);	0.569399	0.18669	N	0.134492	T	0.58163	0.2103	L	0.50847	1.595	0.40560	D	0.981207	D;D;B;D	0.89917	1.0;1.0;0.074;0.999	D;D;B;D	0.77004	0.989;0.989;0.149;0.983	T	0.57894	-0.7732	10	0.44086	T	0.13	-21.777	14.4944	0.67674	0.0707:0.0:0.9293:0.0	.	227;265;197;240	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	H	240;80;197;265;227	ENSP00000300441:Q240H;ENSP00000437987:Q80H;ENSP00000425964:Q197H;ENSP00000401831:Q265H;ENSP00000421884:Q227H	ENSP00000300441:Q240H	Q	+	3	2	ACSF2	45894873	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	2.175000	0.42491	1.354000	0.45846	0.563000	0.77884	CAG		0.617	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367423.3	NM_025149		73	340	1	0	1.52378e-38	1	1.83746e-38	73	340					T	48539874	G	T	48539874	3	4	79	1	0	0	0	0	1	0	0	0	175	962	34	3	742	3	ACSF2	17	48539874	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65265	48539874	32655336	17457	27774											
CHAD	1101	broad.mit.edu	37	chr17	48545740	48545740	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaagaggttgaccagCggggagagcaacccccgggg	17	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48545740C>T	ENST00000508540.1	-	1	587	c.435G>A	c.(433-435)ccG>ccA	p.P145P	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	145					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTTGACCAGCGGGGAGAGCA	0.627																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(433-435)ccG>ccA		chondroadherin							42	41	42					17																	48545740		2203	4300	6503	SO:0001819	synonymous_variant	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545740C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.435G>A	17.37:g.48545740C>T						ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Silent_p.P145P|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron	p.P145P	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	587	-	Breast(11;1.93e-18)		145					A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	c.435G>A	CCDS11568.1																																																																																				0.627	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		59	314	0	0	0	1	0	59	314					T	48545740	C	T	48545740	2	4	79	1	0	0	0	0	0	0	0	1	3319	755	27	1		1	CHAD	17	48545740	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5866	48545740	32649470	17458	27775											
CHAD	1101	broad.mit.edu	37	chr17	48546111	48546111	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagttctgggggcaggCggccagcgccggcagcagac	19	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48546111C>T	ENST00000508540.1	-	1	216	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	22					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGGCAGGCGGCCAGCGCC	0.682																																						ENST00000508540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15						c.(64-66)Gcc>Acc		chondroadherin							22	21	21					17																	48546111		2203	4299	6502	SO:0001583	missense	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48546111C>T	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	1909	protein-coding gene	gene with protein product	"chondroadherin proteoglycan"	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.64G>A	17.37:g.48546111C>T	ENSP00000423812:p.Ala22Thr					ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A22T|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron	p.A22T	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	216	-	Breast(11;1.93e-18)		22					A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	c.64G>A	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113910	0.56398	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	D;D	0.96745	-4.11;-4.11	4.31	4.31	0.51392	Leucine-rich repeat-containing N-terminal (2);	0.119263	0.56097	D	0.000023	D	0.95408	0.8509	L	0.40543	1.245	0.44643	D	0.997625	D	0.63880	0.993	P	0.53593	0.73	D	0.93851	0.7145	10	0.20519	T	0.43	.	16.9843	0.86336	0.0:1.0:0.0:0.0	.	22	O15335	CHAD_HUMAN	T	22	ENSP00000423812:A22T;ENSP00000258969:A22T	ENSP00000258969:A22T	A	-	1	0	CHAD	45901110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.388000	0.66249	2.232000	0.73038	0.462000	0.41574	GCC		0.682	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		25	76	0	0	0	1	0	25	76					T	48546111	C	T	48546111	3	4	79	1	0	0	0	0	1	0	0	0	3319	768	27	1	1027	1	CHAD	17	48546111	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	48546111	32649099	17459	27776											
EPN3	55040	broad.mit.edu	37	chr17	48614080	48614080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaacacagtggccttcaccGaagtcatgggcatgctgtgg	12	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48614080G>A	ENST00000268933.3	+	2	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.E110K|EPN3_ENST00000541226.1_5'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	55	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.					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)			GGCCTTCACCGAAGTCATGGG	0.597																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(163-165)Gaa>Aaa		epsin 3							92	85	87					17																	48614080		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48614080G>A	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.163G>A	17.37:g.48614080G>A	ENSP00000268933:p.Glu55Lys					EPN3_ENST00000537145.1_Missense_Mutation_p.E110K|EPN3_ENST00000541226.1_5'UTR	p.E55K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		2	742	+	Breast(11;1.23e-18)		55			ENTH.		A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.163G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262270	0.95368	.	.	ENSG00000049283	ENST00000268933;ENST00000503246;ENST00000442715;ENST00000537145;ENST00000507709;ENST00000515126;ENST00000507467;ENST00000411703	T;T;T;T;T	0.48522	0.81;0.81;0.85;0.81;0.81	5.28	5.28	0.74379	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.168407	0.51477	D	0.000086	T	0.76378	0.3979	M	0.91768	3.24	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	0.82216	-0.0567	10	0.72032	D	0.01	-26.6736	18.5277	0.90978	0.0:0.0:1.0:0.0	.	110;110;55	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	K	55;55;110;110;16;55;55;55	ENSP00000268933:E55K;ENSP00000426762:E55K;ENSP00000439512:E110K;ENSP00000422601:E55K;ENSP00000421515:E55K	ENSP00000268933:E55K	E	+	1	0	EPN3	45969079	1.000000	0.71417	0.979000	0.43373	0.703000	0.40648	9.869000	0.99810	2.468000	0.83385	0.561000	0.74099	GAA		0.597	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		75	415	0	0	0	1	0	75	415					A	48614080	G	A	48614080	3	1	79	1	0	0	0	0	1	0	0	0	5205	1059	37	1	165	1	EPN3	17	48614080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67969	48614080	32581130	17460	27777											
EPN3	55040	broad.mit.edu	37	chr17	48618173	48618173	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttttaggccgaacacagaGgccagtggatcctcctgggg	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48618173G>A	ENST00000268933.3	+	7	1578	c.999G>A	c.(997-999)gaG>gaA	p.E333E	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.E361E|EPN3_ENST00000541226.1_Missense_Mutation_p.R221K	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	333	5 X 3 AA repeats of [DE]-P-W.					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)			CGAACACAGAGGCCAGTGGAT	0.617																																						ENST00000541226.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(661-663)aGg>aAg		epsin 3							57	58	58					17																	48618173		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48618173G>A	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.999G>A	17.37:g.48618173G>A						EPN3_ENST00000537145.1_Silent_p.E361E|EPN3_ENST00000268933.3_Silent_p.E333E	p.R221K			Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		6	991	+	Breast(11;1.23e-18)		411					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.662G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078386	0.36662	.	.	ENSG00000049283	ENST00000541226	T	0.40756	1.02	5.23	2.1	0.27182	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.23082	N	0.998326	.	.	.	.	.	.	T	0.27938	-1.0059	6	0.06625	T	0.88	-7.9673	1.5035	0.02481	0.2435:0.145:0.4619:0.1496	.	.	.	.	K	221	ENSP00000440540:R221K	ENSP00000440540:R221K	R	+	2	0	EPN3	45973172	0.069000	0.21087	0.996000	0.52242	0.866000	0.49608	0.119000	0.15626	0.216000	0.20781	0.555000	0.69702	AGG		0.617	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		58	293	0	0	0	1	0	58	293					A	48618173	G	A	48618173	2	1	79	1	0	0	0	0	0	0	0	1	5205	991	35	2		2	EPN3	17	48618173	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4093	48618173	32577037	17461	27778											
CACNA1G	8913	broad.mit.edu	37	chr17	48676891	48676891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgcacccagcctgaagCggagaagcccaagtggagag	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48676891C>T	ENST00000359106.5	+	17	3361	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1121					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)	CAGCCTGAAGCGGAGAAGCCC	0.687																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3292-3294)Cgg>Tgg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						19	27	24					17																	48676891		2032	4162	6194	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48676891C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3361C>T	17.37:g.48676891C>T	ENSP00000352011:p.Arg1121Trp					CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1098W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1121W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1098W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1098W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1121W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1121W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1098W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1121W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1121W	p.R1098W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3664	+	Breast(11;6.7e-17)		1121					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.3292C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	19.76	3.887994	0.72410	.	.	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	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	4.47	4.47	0.54385	.	0.065248	0.64402	D	0.000006	D	0.91696	0.7375	M	0.73217	2.22	0.54753	D	0.99998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	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	0.91635	0.991;0.995;0.997;0.996;0.999;0.997;0.994;0.999;0.994;0.995;0.999;0.994;0.995;0.999;0.992;0.996;0.982;0.977;0.999;0.995;0.988;0.987;0.999;0.982;0.99;0.992	D	0.92762	0.6225	10	0.72032	D	0.01	.	17.3164	0.87225	0.0:1.0:0.0:0.0	.	1098;1121;1121;1121;1121;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121;1098;1121;1098;1098;1098;1098;1121;1098;1121	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;.;.	W	1098;1098;1121;1098;1098;1098;1121;1121;1098;1121;1121;1121;1121;1121;1121;1098;1121;1121;1121;1121;1098;1121;1121;1121;1121;1121	ENSP00000353990:R1098W;ENSP00000339302:R1098W;ENSP00000392390:R1121W;ENSP00000347078:R1098W;ENSP00000409759:R1098W;ENSP00000425522:R1098W;ENSP00000426261:R1121W;ENSP00000425451:R1121W;ENSP00000422407:R1098W;ENSP00000426814:R1121W;ENSP00000427238:R1121W;ENSP00000423112:R1121W;ENSP00000420918:R1121W;ENSP00000426172:R1121W;ENSP00000423045:R1121W;ENSP00000427173:R1098W;ENSP00000426098:R1121W;ENSP00000425698:R1121W;ENSP00000426232:R1121W;ENSP00000423317:R1121W;ENSP00000350979:R1098W;ENSP00000352011:R1121W;ENSP00000414388:R1121W;ENSP00000423155:R1121W;ENSP00000422268:R1121W;ENSP00000421518:R1121W	ENSP00000339302:R1098W	R	+	1	2	CACNA1G	46031890	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	2.372000	0.44257	2.322000	0.78497	0.561000	0.74099	CGG		0.687	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	64	0	0	0	1	0	12	64					T	48676891	C	T	48676891	3	4	79	1	0	0	0	0	1	0	0	0	2551	759	27	1	3427	1	CACNA1G	17	48676891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58718	48676891	32518319	17462	27779											
CACNA1G	8913	broad.mit.edu	37	chr17	48677208	48677208	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggggatgacgccgatgaCgagggcaacctggtgaggcc	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48677208C>T	ENST00000359106.5	+	17	3678	c.3678C>T	c.(3676-3678)gaC>gaT	p.D1226D	CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000352832.5_Silent_p.D1203D|CACNA1G_ENST00000507896.1_Silent_p.D1226D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000513964.1_Silent_p.D1226D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1226					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)	ACGCCGATGACGAGGGCAACC	0.652																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(3607-3609)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						20	23	22					17																	48677208		1998	4146	6144	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48677208C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3678C>T	17.37:g.48677208C>T						CACNA1G_ENST00000442258.2_Silent_p.D1203D|CACNA1G_ENST00000354983.4_Silent_p.D1203D|CACNA1G_ENST00000505165.1_Silent_p.D1226D|CACNA1G_ENST00000429973.2_Silent_p.D1226D|CACNA1G_ENST00000510115.1_Silent_p.D1203D|CACNA1G_ENST00000416767.4_Silent_p.D1226D|CACNA1G_ENST00000502264.1_Silent_p.D1203D|CACNA1G_ENST00000514181.1_Silent_p.D1226D|CACNA1G_ENST00000358244.5_Silent_p.D1203D|CACNA1G_ENST00000514717.1_Silent_p.D1203D|CACNA1G_ENST00000513689.2_Silent_p.D1226D|CACNA1G_ENST00000359106.5_Silent_p.D1226D|CACNA1G_ENST00000514079.1_Silent_p.D1226D|CACNA1G_ENST00000512389.1_Silent_p.D1226D|CACNA1G_ENST00000507609.1_Silent_p.D1226D|CACNA1G_ENST00000510366.1_Silent_p.D1226D|CACNA1G_ENST00000507510.2_Silent_p.D1226D|CACNA1G_ENST00000513964.1_Silent_p.D1226D|CACNA1G_ENST00000515411.1_Silent_p.D1226D|CACNA1G_ENST00000515165.1_Silent_p.D1226D|CACNA1G_ENST00000360761.4_Silent_p.D1203D|CACNA1G_ENST00000515765.1_Silent_p.D1226D|CACNA1G_ENST00000503485.1_Silent_p.D1226D|CACNA1G_ENST00000507336.1_Silent_p.D1226D|CACNA1G_ENST00000507896.1_Silent_p.D1226D	p.D1203D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		16	3981	+	Breast(11;6.7e-17)		1226					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.3609C>T	CCDS45730.1																																																																																				0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		21	158	0	0	0	1	0	21	158					T	48677208	C	T	48677208	2	4	79	1	0	0	0	0	0	0	0	1	2551	535	19	1		1	CACNA1G	17	48677208	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317	48677208	32518002	17463	27780											
CACNA1G	8913	broad.mit.edu	37	chr17	48692758	48692758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactactccgactactcccGcttccggctcctcgtccacc	5	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48692758G>A	ENST00000359106.5	+	27	4796	c.4796G>A	c.(4795-4797)cGc>cAc	p.R1599H	CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1599					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)	GACTACTCCCGCTTCCGGCTC	0.632																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4693-4695)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						61	64	63					17																	48692758		2036	4192	6228	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48692758G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4796G>A	17.37:g.48692758G>A	ENSP00000352011:p.Arg1599His					CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1558H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1565H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1581H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1576H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1565H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1542H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1554H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1599H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1606H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1547H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1599H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1554H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1581H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1599H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1576H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1565H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1588H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1588H	p.R1565H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		25	5066	+	Breast(11;6.7e-17)		1599					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4694G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.476722	0.26511	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;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	0.97016	-4.05;-4.05;-4.0;-4.06;-4.05;-4.08;-4.2;-4.18;-4.16;-4.21;-4.03;-4.02;-4.15;-4.04;-4.01;-4.08;-4.06;-4.03;-4.1;-4.05;-4.02;-4.09;-4.03;-4.08;-4.08	4.75	4.75	0.60458	.	0.126247	0.48767	D	0.000168	D	0.95758	0.8620	N	0.26162	0.8	0.35461	D	0.796521	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;P;B;B;B;D;B;B;B;B	0.89917	0.998;0.013;0.998;0.999;0.999;1.0;1.0;0.074;1.0;0.016;0.061;0.027;0.018;0.061;1.0;0.016;0.496;0.063;0.131;0.027;0.999;0.007;0.128;0.016;0.006	D;B;P;D;D;P;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B	0.80764	0.976;0.006;0.834;0.994;0.932;0.904;0.992;0.023;0.992;0.003;0.011;0.013;0.006;0.011;0.904;0.006;0.034;0.013;0.023;0.014;0.984;0.006;0.018;0.006;0.002	D	0.96457	0.9338	10	0.39692	T	0.17	.	11.288	0.49232	0.0848:0.0:0.9152:0.0	.	1542;1554;1547;1581;1554;1581;1606;1565;1599;1588;1599;1576;1588;1588;1581;1588;1599;1576;1599;1565;1558;1565;1576;1599;1565	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	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1576;1565;1565;1558;1576;1588;1554;1542;1547;1565;1599;1588;1554;1599;1565;1599;1581;1588;1606;1565;1599;1581;1581;1599;1588	ENSP00000353990:R1576H;ENSP00000339302:R1565H;ENSP00000347078:R1565H;ENSP00000409759:R1558H;ENSP00000425522:R1576H;ENSP00000426261:R1588H;ENSP00000425451:R1554H;ENSP00000422407:R1542H;ENSP00000426814:R1547H;ENSP00000427238:R1565H;ENSP00000423112:R1599H;ENSP00000420918:R1588H;ENSP00000426172:R1554H;ENSP00000423045:R1599H;ENSP00000427173:R1565H;ENSP00000426098:R1599H;ENSP00000425698:R1581H;ENSP00000426232:R1588H;ENSP00000423317:R1606H;ENSP00000350979:R1565H;ENSP00000352011:R1599H;ENSP00000414388:R1581H;ENSP00000423155:R1581H;ENSP00000422268:R1599H;ENSP00000421518:R1588H	ENSP00000339302:R1565H	R	+	2	0	CACNA1G	46047757	0.031000	0.19500	1.000000	0.80357	0.982000	0.71751	1.308000	0.33528	2.170000	0.68504	0.462000	0.41574	CGC		0.632	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		47	165	0	0	0	1	0	47	165					A	48692758	G	A	48692758	3	1	79	1	0	0	0	0	1	0	0	0	2551	1087	38	1	5169	1	CACNA1G	17	48692758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15550	48692758	32502452	17464	27781											
CACNA1G	8913	broad.mit.edu	37	chr17	48701746	48701746	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtccgttcactcccaGccagcagataccagctacat	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48701746G>T	ENST00000359106.5	+	37	6255	c.6255G>T	c.(6253-6255)caG>caT	p.Q2085H	CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2085					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)	TTCACTCCCAGCCAGCAGATA	0.637																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5872-5874)caG>caT		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						34	32	33					17																	48701746		1992	4156	6148	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48701746G>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6255G>T	17.37:g.48701746G>T	ENSP00000352011:p.Gln2085His					CACNA1G_ENST00000442258.2_Missense_Mutation_p.Q1951H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Q2051H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Q1974H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Q2006H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Q2014H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Q1967H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Q1935H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Q1995H|CACNA1G_ENST00000359106.5_Missense_Mutation_p.Q2085H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Q1999H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Q1981H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Q1985H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Q1940H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Q2040H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Q1947H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Q2022H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Q1992H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Q1969H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Q2029H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Q1958H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Q2074H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Q1981H	p.Q1958H	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6246	+	Breast(11;6.7e-17)		2085					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5874G>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	16.87	3.241904	0.58995	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;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	0.98280	-4.62;-4.54;-4.49;-4.56;-4.84;-4.57;-4.73;-4.69;-4.8;-4.72;-4.69;-4.51;-4.77;-4.62;-4.64;-4.66;-4.55;-4.77;-4.59;-4.4;-4.57;-4.59;-4.67;-4.43;-4.43	5.53	3.44	0.39384	.	47.086200	0.00166	N	0.000000	D	0.98667	0.9553	L	0.55990	1.75	0.39259	D	0.964189	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.995;1.0;0.995;0.995;0.998;0.995;0.991;0.999;0.991;0.999;0.998;1.0;1.0;0.996;0.995;0.988;0.997;0.997;0.999;1.0;0.995;0.999;0.999;0.989;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;P;D	0.87578	0.989;0.984;0.983;0.991;0.995;0.921;0.991;0.998;0.991;0.971;0.993;0.993;0.984;0.993;0.974;0.805;0.921;0.992;0.998;0.984;0.989;0.961;0.997;0.854;0.921	D	0.91737	0.5401	10	0.51188	T	0.08	.	10.6152	0.45445	0.165:0.0:0.835:0.0	.	1935;1947;1940;2022;1995;1967;1999;1958;1985;1981;1992;2014;1981;2074;1974;2029;1992;2062;2040;1958;1951;2006;1969;2085;1958	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	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	H	1969;1958;2051;1951;2014;1981;1947;1935;1940;1958;2040;2074;1995;1985;2006;1992;1967;2029;1999;1958;2085;1974;2022;1992;1981	ENSP00000353990:Q1969H;ENSP00000339302:Q1958H;ENSP00000347078:Q2051H;ENSP00000409759:Q1951H;ENSP00000425522:Q2014H;ENSP00000426261:Q1981H;ENSP00000425451:Q1947H;ENSP00000422407:Q1935H;ENSP00000426814:Q1940H;ENSP00000427238:Q1958H;ENSP00000423112:Q2040H;ENSP00000420918:Q2074H;ENSP00000426172:Q1995H;ENSP00000423045:Q1985H;ENSP00000427173:Q2006H;ENSP00000426098:Q1992H;ENSP00000425698:Q1967H;ENSP00000426232:Q2029H;ENSP00000423317:Q1999H;ENSP00000350979:Q1958H;ENSP00000352011:Q2085H;ENSP00000414388:Q1974H;ENSP00000423155:Q2022H;ENSP00000422268:Q1992H;ENSP00000421518:Q1981H	ENSP00000339302:Q1958H	Q	+	3	2	CACNA1G	46056745	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.273000	0.51623	0.604000	0.29930	-0.367000	0.07326	CAG		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		5	33	1	0	0.217242	1	0.217458	5	33					T	48701746	G	T	48701746	3	4	79	1	0	0	0	0	1	0	0	0	2551	962	34	3	6668	3	CACNA1G	17	48701746	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8988	48701746	32493464	17465	27782											
CACNA1G	8913	broad.mit.edu	37	chr17	48703937	48703937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacccccccgagagccaagGtcctcggaccccgcccagcc	10	21	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48703937G>A	ENST00000359106.5	+	38	6959	c.6959G>A	c.(6958-6960)gGt>gAt	p.G2320D	CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G2193D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2320					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)	GAGAGCCAAGGTCCTCGGACC	0.667											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(6577-6579)gGt>gAt		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						17	22	21					17																	48703937		1842	4071	5913	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48703937G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6959G>A	17.37:g.48703937G>A	ENSP00000352011:p.Gly2320Asp		OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	956	CACNA1G_ENST00000442258.2_Missense_Mutation_p.G2186D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2286D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G2148D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G2209D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G2241D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G2249D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G2202D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G2114D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G2170D|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G2230D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G2320D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G2234D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G2216D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G2220D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G2175D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2275D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G2182D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2257D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G2227D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G2204D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2264D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G2193D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2309D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G2137D	p.G2193D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		34	6950	+	Breast(11;6.7e-17)		2320					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.6578G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451879	0.43531	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	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	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.5	5.5	0.81552	.	0.838841	0.10943	N	0.617055	T	0.57417	0.2052	L	0.59436	1.845	0.35367	D	0.788757	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;P;P;D;D;P;D;D;D;D;D	0.89917	1.0;0.913;0.907;1.0;0.997;0.997;1.0;0.895;1.0;0.02;0.02;0.995;0.437;0.019;0.999;0.729;0.949;1.0;0.991;0.57;1.0;0.997;0.997;0.978;1.0	D;P;P;D;D;D;D;P;D;B;B;D;B;B;D;B;P;D;P;B;D;D;P;P;D	0.91635	0.998;0.517;0.722;0.999;0.947;0.96;0.999;0.652;0.999;0.012;0.012;0.948;0.119;0.012;0.971;0.334;0.829;0.998;0.889;0.25;0.998;0.947;0.907;0.719;0.997	T	0.61978	-0.6951	10	0.87932	D	0	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	2170;2182;2175;2257;2230;2202;2234;2193;2220;2137;2148;2249;2216;2309;2209;2264;2227;2297;2275;2193;2186;2241;2204;2320;2114	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	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	D	2204;2193;2286;2186;2249;2216;2182;2170;2175;2193;2275;2309;2230;2220;2241;2227;2202;2264;2234;2114;2320;2209;2257;2148;2137	ENSP00000353990:G2204D;ENSP00000339302:G2193D;ENSP00000347078:G2286D;ENSP00000409759:G2186D;ENSP00000425522:G2249D;ENSP00000426261:G2216D;ENSP00000425451:G2182D;ENSP00000422407:G2170D;ENSP00000426814:G2175D;ENSP00000427238:G2193D;ENSP00000423112:G2275D;ENSP00000420918:G2309D;ENSP00000426172:G2230D;ENSP00000423045:G2220D;ENSP00000427173:G2241D;ENSP00000426098:G2227D;ENSP00000425698:G2202D;ENSP00000426232:G2264D;ENSP00000423317:G2234D;ENSP00000350979:G2114D;ENSP00000352011:G2320D;ENSP00000414388:G2209D;ENSP00000423155:G2257D;ENSP00000422268:G2148D;ENSP00000421518:G2137D	ENSP00000339302:G2193D	G	+	2	0	CACNA1G	46058936	1.000000	0.71417	0.980000	0.43619	0.300000	0.27592	5.458000	0.66679	2.590000	0.87494	0.561000	0.74099	GGT		0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		18	94	0	0	0	1	0	18	94					A	48703937	G	A	48703937	3	1	79	1	0	0	0	0	1	0	0	0	2551	1261	44	2	7376	2	CACNA1G	17	48703937	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2191	48703937	32491273	17466	27783											
ABCC3	8714	broad.mit.edu	37	chr17	48733272	48733272	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctggcctgggtgccctGcatctacctgtgggtcgccc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48733272G>A	ENST00000285238.8	+	2	205	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	42				C -> R (in Ref. 5; CAA76658). {ECO:0000305}.	bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TGGGTGCCCTGCATCTACCTG	0.587																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(124-126)tGc>tAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						132	109	117					17																	48733272		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48733272G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.125G>A	17.37:g.48733272G>A	ENSP00000285238:p.Cys42Tyr					ABCC3_ENST00000427699.1_Missense_Mutation_p.C42Y	p.C42Y	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		2	205	+			42	C -> R (in Ref. 5; CAA76658).				B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.125G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364654	0.82463	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	T;T	0.59502	0.26;0.26	5.19	4.18	0.49190	.	0.060583	0.64402	D	0.000003	T	0.77412	0.4126	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.79108	0.903;0.992	T	0.81906	-0.0718	10	0.87932	D	0	-25.6963	14.6648	0.68899	0.0:0.1459:0.8541:0.0	.	42;42	O15438;O15438-5	MRP3_HUMAN;.	Y	42	ENSP00000395160:C42Y;ENSP00000285238:C42Y	ENSP00000285238:C42Y	C	+	2	0	ABCC3	46088271	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.338000	0.65947	2.411000	0.81874	0.650000	0.86243	TGC		0.587	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		55	247	0	0	0	1	0	55	247					A	48733272	G	A	48733272	3	1	79	1	0	0	0	0	1	0	0	0	54	1319	46	2	131	2	ABCC3	17	48733272	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29335	48733272	32461938	17467	27784											
ABCC3	8714	broad.mit.edu	37	chr17	48746712	48746712	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatttctcctgtggccaGggctccgtggcctatgtgcc	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48746712G>T	ENST00000285238.8	+	17	2144		c.e17-1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGTGGCCAGGGCTCCGTGG	0.607																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.e17-1		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						57	56	56					17																	48746712		2203	4300	6503	SO:0001630	splice_region_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48746712G>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2065-1G>T	17.37:g.48746712G>T								NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		17	2144	+								B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Splice_Site	SNP	ENST00000285238.8	37		CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806506	0.31961	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4367	0.87554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC3	46101711	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	9.657000	0.98554	2.432000	0.82394	0.305000	0.20034	.		0.607	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038	Intron	56	257	1	0	1.83081e-24	1	2.09304e-24	56	257					T	48746712	G	T	48746712	5	4	79	1	0	0	0	0	0	0	1	0	54	1014	35	3	2214	3	ABCC3	17	48746712	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13440	48746712	32448498	17468	27785											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcctgcatgagcgggcCgctggccgcgtgcagcctgc	17	15	0	1	rs372115241		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	382					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1144-1146)cCg>cTg		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			LEU/PRO	0,4406		0,0,2203	42	40	41		1145	5.1	0.9	17		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	WFIKKN2	NM_175575.5	98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	382/577	48917794	1,13001	2203	4298	6501	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917794C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1145C>T	17.37:g.48917794C>T	ENSP00000311184:p.Pro382Leu					RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L	p.P382L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1673	+			382					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1145C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421460	0.42918	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	D;D	0.82619	-1.63;-1.61	5.12	5.12	0.69794	Proteinase inhibitor I2, Kunitz metazoa (1);	0.121420	0.64402	D	0.000019	T	0.77287	0.4108	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71155	-0.4675	10	0.25106	T	0.35	.	18.5566	0.91088	0.0:1.0:0.0:0.0	.	382	Q8TEU8	WFKN2_HUMAN	L	289;382;88	ENSP00000405889:P289L;ENSP00000311184:P382L	ENSP00000311184:P382L	P	+	2	0	WFIKKN2	46272793	0.998000	0.40836	0.893000	0.35052	0.976000	0.68499	6.007000	0.70731	2.361000	0.80049	0.556000	0.70494	CCG		0.652	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		59	355	0	0	0	1	0	59	355					T	48917794	C	T	48917794	3	4	79	1	0	0	0	0	1	0	0	0	17413	652	23	1	1151	1	WFIKKN2	17	48917794	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171082	48917794	32277416	17469	27786											
WFIKKN2	124857	broad.mit.edu	37	chr17	48918254	48918254	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatgggggaggtggacggCggcatggccatgctgcgccc	18	11	1	0	rs146313081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48918254C>T	ENST00000311378.4	+	2	2133	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	WFIKKN2_ENST00000426127.1_Silent_p.G442G|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGGTGGACGGCGGCATGGCCA	0.632																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1603-1605)ggC>ggT		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2		C		0,4406		0,0,2203	56	44	48		1605	-4.1	0.7	17	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WFIKKN2	NM_175575.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		535/577	48918254	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48918254C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1605C>T	17.37:g.48918254C>T						RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.G442G	p.G535G	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	2133	+			535			NTR.		Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.1605C>T	CCDS11575.1																																																																																				0.632	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		46	206	0	0	0	1	0	46	206					T	48918254	C	T	48918254	2	4	79	1	0	0	0	0	0	0	0	1	17413	755	27	1		1	WFIKKN2	17	48918254	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	460	48918254	32276956	17470	27787											
SPAG9	9043	broad.mit.edu	37	chr17	49064500	49064500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgagctccaagccacataGttggtaaaagactactcatt	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49064500G>A	ENST00000262013.7	-	22	3120	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I|SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	971					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)			AAGCCACATAGTTGGTAAAAG	0.348																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2911-2913)aCt>aTt		sperm associated antigen 9							152	134	140					17																	49064500		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49064500G>A	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.2912C>T	17.37:g.49064500G>A	ENSP00000262013:p.Thr971Ile					SPAG9_ENST00000357122.4_Missense_Mutation_p.T957I|SPAG9_ENST00000510283.1_Missense_Mutation_p.T814I|SPAG9_ENST00000505279.1_Missense_Mutation_p.T961I	p.T971I	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		22	3120	-			971					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2912C>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171147	0.94807	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.44083	0.93;0.93;0.93;0.95	5.8	5.8	0.92144	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.69316	-0.5177	10	0.87932	D	0	-15.7473	20.051	0.97627	0.0:0.0:1.0:0.0	.	961;971;957;814	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	I	971;728;718;508;814;961;957;569	ENSP00000262013:T971I;ENSP00000423165:T814I;ENSP00000426900:T961I;ENSP00000349636:T957I	ENSP00000262013:T971I	T	-	2	0	SPAG9	46419499	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.773000	0.98989	2.740000	0.93945	0.650000	0.86243	ACT		0.348	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		83	344	0	0	0	1	0	83	344					A	49064500	G	A	49064500	3	1	79	1	0	0	0	0	1	0	0	0	15037	1029	36	2	1089	2	SPAG9	17	49064500	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146246	49064500	32130710	17471	27788											
SPAG9	9043	broad.mit.edu	37	chr17	49075897	49075897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggacggagtaacatgagaCgtgggtgcattgtacttcag	14	7	1	1	rs527431717	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49075897C>T	ENST00000262013.7	-	15	1954	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPAG9_ENST00000505279.1_Silent_p.T572T|SPAG9_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	582					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)			TAACATGAGACGTGGGTGCAT	0.443													C|||	4	0.000798722	0.0	0.0	5008	,	,		16629	0.0		0.0	False		,,,				2504	0.0041					ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1744-1746)acG>acA		sperm associated antigen 9							181	152	162					17																	49075897		2203	4300	6503	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49075897C>T	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.1746G>A	17.37:g.49075897C>T						SPAG9_ENST00000357122.4_Silent_p.T568T|SPAG9_ENST00000510283.1_Silent_p.T425T|SPAG9_ENST00000505279.1_Silent_p.T572T	p.T582T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		15	1954	-			582					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.1746G>A	CCDS45740.1																																																																																				0.443	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		81	344	0	0	0	1	0	81	344					T	49075897	C	T	49075897	2	4	79	1	0	0	0	0	0	0	0	1	15037	523	19	1		1	SPAG9	17	49075897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11397	49075897	32119313	17472	27789											
NME1	4830	broad.mit.edu	37	chr17	49239138	49239138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtgcagagaaggagatcGgcttgtggtttcaccctgag	15	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49239138G>A	ENST00000393196.3	+	5	522	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron|NME1_ENST00000511355.1_3'UTR|NME1-NME2_ENST00000393198.3_Intron|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000608447.1_Intron|NME1_ENST00000336097.3_Missense_Mutation_p.G156S	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	131					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GAAGGAGATCGGCTTGTGGTT	0.468																																					GBM(176;1298 2890 6639 30062)	ENST00000336097.3																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(466-468)Ggc>Agc		NME/NM23 nucleoside diphosphate kinase 1							127	115	119					17																	49239138		2203	4300	6503	SO:0001583	missense	4830							g.chr17:49239138G>A	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"non-metastatic cells 1, protein (NM23A) expressed in"			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.391G>A	17.37:g.49239138G>A	ENSP00000376892:p.Gly131Ser					NME2_ENST00000376392.6_Intron|NME2_ENST00000555572.1_Intron|NME1_ENST00000511355.1_3'UTR|NME1_ENST00000393196.3_Missense_Mutation_p.G131S|NME1_ENST00000013034.3_Missense_Mutation_p.G156S|NME2_ENST00000393193.2_Intron	p.G156S	NM_198175.1	NP_937818.1			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		6	702	+								Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	37	c.466G>A	CCDS11579.1	.	.	.	.	.	.	.	.	.	.	G	7.452	0.642871	0.14451	.	.	ENSG00000239672	ENST00000393196;ENST00000336097;ENST00000013034	T;T;T	0.75938	-0.98;-0.98;-0.98	5.81	1.19	0.21007	.	.	.	.	.	T	0.47173	0.1431	N	0.03209	-0.39	0.21105	N	0.999788	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29822	-0.9999	9	0.27785	T	0.31	-2.5617	6.3414	0.21324	0.3619:0.1399:0.4982:0.0	.	131;156	P15531;P15531-2	NDKA_HUMAN;.	S	131;156;156	ENSP00000376892:G131S;ENSP00000337060:G156S;ENSP00000013034:G156S	ENSP00000013034:G156S	G	+	1	0	NME1	46594137	0.966000	0.33281	0.477000	0.27303	0.325000	0.28411	0.859000	0.27858	0.017000	0.15025	-0.980000	0.02579	GGC		0.468	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		68	331	0	0	0	1	0	68	331					A	49239138	G	A	49239138	3	1	79	1	0	0	0	0	1	0	0	0	10531	1116	39	1	484	1	NME1	17	49239138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	163241	49239138	31956072	17473	27790											
NME1-NME2	4831	broad.mit.edu	37	chr17	49244308	49244308	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcctcgtggccatgaaGttcctccgggtaactcgccc	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49244308G>A	ENST00000393193.2	+	5	539	c.462G>A	c.(460-462)aaG>aaA	p.K154K	NME2_ENST00000376392.6_Silent_p.K154K|NME2_ENST00000555572.1_Silent_p.K179K|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME1-NME2_ENST00000393198.3_Silent_p.K154K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME1-NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000608447.1_Silent_p.K179K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000503064.1_Silent_p.K39K|NME1-NME2_ENST00000514264.2_Silent_p.K39K			P22392	NDKB_HUMAN	NME/NM23 nucleoside diphosphate kinase 2	39					cell adhesion (GO:0007155)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of apoptotic process (GO:0043066)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside triphosphate biosynthetic process (GO:0009142)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|UTP biosynthetic process (GO:0006228)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)|protein histidine kinase activity (GO:0004673)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGGCCATGAAGTTCCTCCGGG	0.667											OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(49;809 1203 4404 15246)	ENST00000555572.1																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(535-537)aaG>aaA		NME/NM23 nucleoside diphosphate kinase 2							60	53	55					17																	49244308		2203	4299	6502	SO:0001819	synonymous_variant	4831							g.chr17:49244308G>A	X58965	CCDS11580.1, CCDS74107.1	17q21.33	2013-04-29	2012-05-18		ENSG00000011052	ENSG00000011052			7850	protein-coding gene	gene with protein product		156491	"non-metastatic cells 2, protein (NM23B) expressed in"			1988104, 19852809	Standard	NM_001018137		Approved	NM23-H2, NDPKB		P22392	OTTHUMG00000154062	ENST00000393193.2:c.462G>A	17.37:g.49244308G>A			OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	NME2_ENST00000376392.6_Silent_p.K154K|NME1-NME2_ENST00000512737.1_Silent_p.K39K|NME1-NME2_ENST00000513177.1_Silent_p.K39K|NME1-NME2_ENST00000393190.1_Silent_p.K39K|NME2_ENST00000393183.3_5'UTR|NME2_ENST00000393193.2_Silent_p.K154K|NME2_ENST00000393185.1_5'UTR|NME2_ENST00000393198.2_Silent_p.K39K|NME1-NME2_ENST00000514264.2_Silent_p.K39K|NME1-NME2_ENST00000503064.1_Silent_p.K39K	p.K179K					BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		6	713	+								A8MWA3|Q1WM23|Q6LCT6	Silent	SNP	ENST00000393193.2	37	c.537G>A	CCDS32682.1																																																																																				0.667	NME2-001	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000268664.2	NM_002512		65	367	0	0	0	1	0	65	367					A	49244308	G	A	49244308	2	1	79	1	0	0	0	0	0	0	0	1	10532	1020	36	2		2	NME1-NME2	17	49244308	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5170	49244308	31950902	17474	27791											
MBTD1	54799	broad.mit.edu	37	chr17	49272664	49272664	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catggtaacagaaccagtcaGatccgtctgctgcttctgag	10	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49272664G>T	ENST00000586178.1	-	13	1626	c.1283C>A	c.(1282-1284)tCt>tAt	p.S428Y	MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	428					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)			GAACCAGTCAGATCCGTCTGC	0.433																																						ENST00000586178.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1282-1284)tCt>tAt		mbt domain containing 1							117	99	105					17																	49272664		2203	4300	6503	SO:0001583	missense	0				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49272664G>T	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.1283C>A	17.37:g.49272664G>T	ENSP00000468304:p.Ser428Tyr					MBTD1_ENST00000415868.1_Missense_Mutation_p.S428Y|MBTD1_ENST00000376381.2_Intron	p.S428Y	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		13	1626	-			428					Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.1283C>A	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997708	0.93227	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.47177	0.85	5.36	5.36	0.76844	.	0.124037	0.64402	D	0.000020	T	0.64724	0.2624	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.64558	-0.6379	10	0.56958	D	0.05	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	428;264	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	Y	428	ENSP00000403946:S428Y	ENSP00000386072:S428Y	S	-	2	0	MBTD1	46627663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.804000	0.99143	2.665000	0.90641	0.643000	0.83706	TCT		0.433	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1			30	318	1	0	1.55811e-20	1	1.74671e-20	30	318					T	49272664	G	T	49272664	3	4	79	1	0	0	0	0	1	0	0	0	9401	942	33	3	623	3	MBTD1	17	49272664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28356	49272664	31922546	17475	27792											
KIF2B	84643	broad.mit.edu	37	chr17	51900714	51900714	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccctcttcggccatcaGggaccagcgtaccgccacga	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900714G>T	ENST00000268919.4	+	1	476	c.320G>T	c.(319-321)aGg>aTg	p.R107M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	107					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						TCGGCCATCAGGGACCAGCGT	0.607																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(319-321)aGg>aTg		kinesin family member 2B							84	92	89					17																	51900714		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900714G>T	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.320G>T	17.37:g.51900714G>T	ENSP00000268919:p.Arg107Met						p.R107M	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	476	+			107					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.320G>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	3.971	-0.008450	0.07727	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74526	-0.85	5.11	4.14	0.48551	.	0.973510	0.08370	N	0.956337	T	0.64148	0.2572	L	0.32530	0.975	0.09310	N	1	P	0.35077	0.483	B	0.31245	0.126	T	0.54523	-0.8281	10	0.44086	T	0.13	.	11.1089	0.48221	0.0897:0.0:0.9103:0.0	.	107	Q8N4N8	KIF2B_HUMAN	M	107;30	ENSP00000268919:R107M	ENSP00000268919:R107M	R	+	2	0	KIF2B	49255713	0.593000	0.26840	0.161000	0.22692	0.009000	0.06853	2.552000	0.45828	2.798000	0.96311	0.655000	0.94253	AGG		0.607	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		146	633	1	0	1.88352e-63	1	2.37737e-63	146	633					T	51900714	G	T	51900714	3	4	79	1	0	0	0	0	1	0	0	0	8328	1000	35	3	322	3	KIF2B	17	51900714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2628050	51900714	29294496	17476	27793											
KIF2B	84643	broad.mit.edu	37	chr17	51900974	51900974	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcacatgatcgaagagTatcgcaggcacctggacagc	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900974T>G	ENST00000268919.4	+	1	736	c.580T>G	c.(580-582)Tat>Gat	p.Y194D		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	194					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						GATCGAAGAGTATCGCAGGCA	0.577																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(580-582)Tat>Gat		kinesin family member 2B							76	65	68					17																	51900974		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900974T>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.580T>G	17.37:g.51900974T>G	ENSP00000268919:p.Tyr194Asp						p.Y194D	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	736	+			194					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.580T>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849780	0.51270	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17370	2.28	5.52	5.52	0.82312	.	0.449029	0.18966	N	0.126267	T	0.22244	0.0536	M	0.62723	1.935	0.44771	D	0.997772	P	0.43857	0.819	B	0.39562	0.303	T	0.02805	-1.1108	10	0.87932	D	0	.	15.1057	0.72319	0.0:0.0:0.0:1.0	.	194	Q8N4N8	KIF2B_HUMAN	D	194;117	ENSP00000268919:Y194D	ENSP00000268919:Y194D	Y	+	1	0	KIF2B	49255973	1.000000	0.71417	0.413000	0.26509	0.753000	0.42808	5.369000	0.66138	2.211000	0.71520	0.533000	0.62120	TAT		0.577	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		75	341	0	0	0	1	0	75	341					G	51900974	T	G	51900974	3	3	79	1	0	0	0	0	1	0	0	0	8328	1638	57	4	582	4	KIF2B	17	51900974	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	260	51900974	29294236	17477	27794											
KIF2B	84643	broad.mit.edu	37	chr17	51901131	51901131	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggacaatgtggttatggTgcatgagtccaagcaaaagg	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901131T>C	ENST00000268919.4	+	1	893	c.737T>C	c.(736-738)gTg>gCg	p.V246A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	246	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						GTGGTTATGGTGCATGAGTCC	0.547																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(736-738)gTg>gCg		kinesin family member 2B							129	105	113					17																	51901131		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901131T>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.737T>C	17.37:g.51901131T>C	ENSP00000268919:p.Val246Ala						p.V246A	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	893	+			246			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.737T>C	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327754	0.81690	.	.	ENSG00000141200	ENST00000268919	T	0.18810	2.19	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.000000	0.46442	D	0.000283	T	0.43055	0.1230	M	0.82056	2.57	0.46564	D	0.999102	P	0.46706	0.883	P	0.53722	0.733	T	0.43180	-0.9407	10	0.72032	D	0.01	.	15.3186	0.74102	0.0:0.0:0.0:1.0	.	246	Q8N4N8	KIF2B_HUMAN	A	246	ENSP00000268919:V246A	ENSP00000268919:V246A	V	+	2	0	KIF2B	49256130	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.941000	0.87700	2.258000	0.74832	0.533000	0.62120	GTG		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		7	284	0	0	0	1	0	7	284					C	51901131	T	C	51901131	3	2	79	1	0	0	0	0	1	0	0	0	8328	1696	59	4	739	4	KIF2B	17	51901131	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	157	51901131	29294079	17478	27795											
KIF2B	84643	broad.mit.edu	37	chr17	51901392	51901392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatttatgctctggtggCacaggatgtctttctcctgc	12	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901392C>T	ENST00000268919.4	+	1	1154	c.998C>T	c.(997-999)gCa>gTa	p.A333V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	333	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						GCTCTGGTGGCACAGGATGTC	0.478																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(997-999)gCa>gTa		kinesin family member 2B							108	109	109					17																	51901392		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901392C>T	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.998C>T	17.37:g.51901392C>T	ENSP00000268919:p.Ala333Val						p.A333V	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1154	+			333			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.998C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042862	0.75732	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.73363	-0.74	5.63	5.63	0.86233	Kinesin, motor domain (4);	0.115539	0.38326	N	0.001727	T	0.69151	0.3079	L	0.28608	0.87	0.54753	D	0.999983	P	0.37207	0.587	B	0.41174	0.349	T	0.71328	-0.4626	10	0.56958	D	0.05	.	16.7672	0.85527	0.0:1.0:0.0:0.0	.	333	Q8N4N8	KIF2B_HUMAN	V	333;221	ENSP00000268919:A333V	ENSP00000268919:A333V	A	+	2	0	KIF2B	49256391	0.998000	0.40836	0.303000	0.25071	0.629000	0.37895	3.740000	0.55082	2.798000	0.96311	0.655000	0.94253	GCA		0.478	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		96	442	0	0	0	1	0	96	442					T	51901392	C	T	51901392	3	4	79	1	0	0	0	0	1	0	0	0	8328	710	25	2	1000	2	KIF2B	17	51901392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261	51901392	29293818	17479	27796											
KIF2B	84643	broad.mit.edu	37	chr17	51901512	51901512	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgaactggaagaagaAgctgcaagtccttgaggatg	13	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901512A>T	ENST00000268919.4	+	1	1274	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	373	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						TGGAAGAAGAAGCTGCAAGTC	0.463																																						ENST00000268919.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(1117-1119)aAg>aTg		kinesin family member 2B							121	111	115					17																	51901512		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901512A>T	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.1118A>T	17.37:g.51901512A>T	ENSP00000268919:p.Lys373Met						p.K373M	NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN			1	1274	+			373			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.1118A>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101980	0.56183	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.76316	-1.01	5.67	4.58	0.56647	Kinesin, motor domain (4);	0.141109	0.32028	N	0.006692	T	0.78033	0.4220	M	0.74258	2.255	0.41685	D	0.989313	B	0.32365	0.367	B	0.39771	0.309	T	0.79569	-0.1749	10	0.62326	D	0.03	.	7.866	0.29537	0.8597:0.0:0.1403:0.0	.	373	Q8N4N8	KIF2B_HUMAN	M	373;261	ENSP00000268919:K373M	ENSP00000268919:K373M	K	+	2	0	KIF2B	49256511	0.016000	0.18221	0.982000	0.44146	0.928000	0.56348	2.351000	0.44071	2.275000	0.75901	0.533000	0.62120	AAG		0.463	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		73	377	0	0	0	1	0	73	377					T	51901512	A	T	51901512	3	4	79	1	0	0	0	0	1	0	0	0	8328	72	3	5	1120	5	KIF2B	17	51901512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	120	51901512	29293698	17480	27797											
TOM1L1	10040	broad.mit.edu	37	chr17	53027406	53027406	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctttttttgcccaaagCgatgacaaaaagtgatctcc	7	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	ENST00000575882.1	+	14	1642	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	COX11_ENST00000573912.1_5'Flank|TOM1L1_ENST00000572158.1_Splice_Site_p.A423V|TOM1L1_ENST00000540336.1_Splice_Site_p.A318V|TOM1L1_ENST00000445275.2_Splice_Site_p.A419V|TOM1L1_ENST00000536554.1_Splice_Site_p.A353V|TOM1L1_ENST00000348161.4_Splice_Site_p.A353V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	430					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.e14-1		target of myb1 (chicken)-like 1							92	88	89					17																	53027406		2203	4300	6503	SO:0001630	splice_region_variant	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53027406C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1289-1C>T	17.37:g.53027406C>T						TOM1L1_ENST00000572158.1_Splice_Site_p.A423_splice|TOM1L1_ENST00000445275.2_Splice_Site_p.A419_splice|TOM1L1_ENST00000536554.1_Splice_Site_p.A353_splice|TOM1L1_ENST00000540336.1_Splice_Site_p.A318_splice|TOM1L1_ENST00000348161.4_Splice_Site_p.A353_splice	p.A430_splice	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			14	1642	+			430					Q53G06|Q8N749	Splice_Site	SNP	ENST00000575882.1	37	c.1288_splice	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631705	0.46944	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.23754	1.89;1.89;1.89	5.51	1.23	0.21249	.	0.658250	0.13744	N	0.365740	T	0.12305	0.0299	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.19445	0.007;0.004;0.036;0.004	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.31138	-0.9954	9	.	.	.	.	5.4075	0.16330	0.0:0.593:0.158:0.249	.	318;423;353;430	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	430;318;353;353	ENSP00000441242:A318V;ENSP00000343901:A353V;ENSP00000443099:A353V	.	A	+	2	0	TOM1L1	50382405	0.002000	0.14202	0.032000	0.17829	0.791000	0.44710	-0.173000	0.09854	0.121000	0.18284	-0.311000	0.09066	GCG		0.358	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486	Missense_Mutation	54	292	0	0	0	1	0	54	292					T	53027406	C	T	53027406	5	4	79	1	0	0	0	0	0	0	1	0	16404	782	27	1	1343	1	TOM1L1	17	53027406	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1125894	53027406	28167804	17481	27798											
TOM1L1	10040	broad.mit.edu	37	chr17	53037950	53037950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttatgaagaaattgatgCtcaccagcacaaaggagctc	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53037950C>T	ENST00000575882.1	+	15	1747	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	465					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GAAATTGATGCTCACCAGCAC	0.343																																						ENST00000575882.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						c.(1393-1395)gCt>gTt		target of myb1 (chicken)-like 1							110	110	110					17																	53037950		2203	4300	6503	SO:0001583	missense	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:53037950C>T	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1394C>T	17.37:g.53037950C>T	ENSP00000460823:p.Ala465Val					TOM1L1_ENST00000572158.1_Missense_Mutation_p.A458V|COX11_ENST00000573912.1_Intron|TOM1L1_ENST00000445275.2_Missense_Mutation_p.A454V|TOM1L1_ENST00000536554.1_Missense_Mutation_p.A388V|TOM1L1_ENST00000540336.1_Missense_Mutation_p.A353V|TOM1L1_ENST00000348161.4_Missense_Mutation_p.A388V	p.A465V	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN			15	1747	+			465					Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	37	c.1394C>T	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613557	0.46631	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T	0.26957	1.7;1.8;1.8	6.17	-7.98	0.01135	.	1.077410	0.07116	N	0.843044	T	0.09158	0.0226	N	0.05383	-0.06	0.40731	D	0.982742	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.002;0.001	T	0.19451	-1.0305	10	0.17832	T	0.49	0.0588	6.1911	0.20524	0.0929:0.5024:0.1878:0.2169	.	353;458;388;465	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	V	465;353;388;388	ENSP00000441242:A353V;ENSP00000343901:A388V;ENSP00000443099:A388V	ENSP00000343901:A388V	A	+	2	0	TOM1L1	50392949	0.000000	0.05858	0.003000	0.11579	0.723000	0.41478	-3.555000	0.00432	-1.488000	0.01847	-0.345000	0.07892	GCT		0.343	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		12	279	0	0	0	1	0	12	279					T	53037950	C	T	53037950	3	4	79	1	0	0	0	0	1	0	0	0	16404	797	28	2	1452	2	TOM1L1	17	53037950	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10544	53037950	28157260	17482	27799											
PCTP	58488	broad.mit.edu	37	chr17	53848535	53848535	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtacccttttcccatgTccaacagagacgtatccttt	6	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53848535T>C	ENST00000268896.5	+	3	453	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PCTP_ENST00000576183.1_Missense_Mutation_p.S110P|PCTP_ENST00000573500.1_Missense_Mutation_p.S110P|PCTP_ENST00000325214.6_Missense_Mutation_p.S38P	NM_021213.3	NP_067036.2	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	110	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|phospholipid transport (GO:0015914)	cytosol (GO:0005829)	phosphatidylcholine binding (GO:0031210)|phosphatidylcholine transporter activity (GO:0008525)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TTTTCCCATGTCCAACAGAGA	0.458																																						ENST00000576183.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(328-330)Tcc>Ccc		phosphatidylcholine transfer protein							176	153	161					17																	53848535		2203	4300	6503	SO:0001583	missense	58488					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity	g.chr17:53848535T>C	AK024667	CCDS11588.1, CCDS45741.1	17q21-q24	2011-09-13				ENSG00000141179		"StAR-related lipid transfer (START) domain containing"	8752	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 2"	606055					Standard	NM_021213		Approved	STARD2	uc002iul.4	Q9UKL6		ENST00000268896.5:c.328T>C	17.37:g.53848535T>C	ENSP00000268896:p.Ser110Pro					PCTP_ENST00000573500.1_Missense_Mutation_p.S110P|PCTP_ENST00000268896.5_Missense_Mutation_p.S110P|PCTP_ENST00000325214.6_Missense_Mutation_p.S38P	p.S110P			Q9UKL6	PPCT_HUMAN	BRCA - Breast invasive adenocarcinoma(1;0.00207)		3	371	+			110			START.		Q9BSC9|Q9UIT3|Q9UKW7	Missense_Mutation	SNP	ENST00000268896.5	37	c.328T>C	CCDS11588.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191660	0.58017	.	.	ENSG00000141179	ENST00000268896;ENST00000417982;ENST00000325214	T;T	0.49720	0.77;0.77	5.19	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.115303	0.64402	D	0.000010	T	0.48447	0.1500	M	0.86805	2.84	0.53688	D	0.99997	P	0.38280	0.625	B	0.33454	0.164	T	0.52109	-0.8619	10	0.52906	T	0.07	.	7.986	0.30212	0.0:0.0935:0.0:0.9065	.	110	Q9UKL6	PPCT_HUMAN	P	110;38;89	ENSP00000268896:S110P;ENSP00000415185:S38P	ENSP00000268896:S110P	S	+	1	0	PCTP	51203534	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	3.156000	0.50708	0.924000	0.37069	0.379000	0.24179	TCC		0.458	PCTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439271.2	NM_021213		64	357	0	0	0	1	0	64	357					C	53848535	T	C	53848535	3	2	79	1	0	0	0	0	1	0	0	0	11649	1667	58	4	338	4	PCTP	17	53848535	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	810585	53848535	27346675	17483	27800											
ANKFN1	162282	broad.mit.edu	37	chr17	54520268	54520268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggacctgctcagaccaCgacaccggcatgtgcctctc	11	15	2	1	rs145617071	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54520268C>T	ENST00000318698.2	+	9	1117	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ANKFN1_ENST00000566473.2_Missense_Mutation_p.T361M	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	361	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.T361M(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCAGACCACGACACCGGCA	0.483													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19329	0.0		0.001	False		,,,				2504	0.0					ENST00000566473.2																			1	Substitution - Missense(1)	p.T361M(1)	endometrium(1)	NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1081-1083)aCg>aTg		ankyrin-repeat and fibronectin type III domain containing 1		C	MET/THR	0,4406		0,0,2203	122	110	114		1082	5.7	1	17	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANKFN1	NM_153228.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	361/764	54520268	1,13005	2203	4300	6503	SO:0001583	missense	162282							g.chr17:54520268C>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1082C>T	17.37:g.54520268C>T	ENSP00000321627:p.Thr361Met					ANKFN1_ENST00000318698.2_Missense_Mutation_p.T361M	p.T361M			Q8N957	ANKF1_HUMAN			9	1082	+			361			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.1082C>T	CCDS32686.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	22.2	4.262435	0.80358	0.0	1.16E-4	ENSG00000153930	ENST00000318698	T	0.33865	1.39	5.72	5.72	0.89469	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.200345	0.53938	D	0.000052	T	0.36853	0.0982	L	0.43923	1.385	0.47094	D	0.999319	D	0.58268	0.982	B	0.42062	0.374	T	0.27773	-1.0064	10	0.66056	D	0.02	-10.2902	19.8804	0.96895	0.0:1.0:0.0:0.0	.	361	Q8N957	ANKF1_HUMAN	M	361	ENSP00000321627:T361M	ENSP00000321627:T361M	T	+	2	0	ANKFN1	51875267	0.993000	0.37304	0.966000	0.40874	0.964000	0.63967	6.516000	0.73755	2.684000	0.91462	0.563000	0.77884	ACG		0.483	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		17	281	0	0	0	1	0	17	281					T	54520268	C	T	54520268	3	4	79	1	0	0	0	0	1	0	0	0	625	536	19	1	1116	1	ANKFN1	17	54520268	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	671733	54520268	26674942	17484	27801											
ANKFN1	162282	broad.mit.edu	37	chr17	54554920	54554920	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatctgggttacctaaagctCtgtagctctgtggatcaaat	9	8	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54554920C>A	ENST00000318698.2	+	15	1889	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L	ANKFN1_ENST00000566473.2_Silent_p.L618L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	618										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACCTAAAGCTCTGTAGCTCTG	0.368																																						ENST00000566473.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						c.(1852-1854)ctC>ctA		ankyrin-repeat and fibronectin type III domain containing 1							124	120	122					17																	54554920		2203	4300	6503	SO:0001819	synonymous_variant	162282							g.chr17:54554920C>A	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1854C>A	17.37:g.54554920C>A						ANKFN1_ENST00000318698.2_Silent_p.L618L	p.L618L			Q8N957	ANKF1_HUMAN			15	1854	+			618						Silent	SNP	ENST00000318698.2	37	c.1854C>A	CCDS32686.1																																																																																				0.368	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		113	423	1	0	4.16533e-50	1	5.15817e-50	113	423					A	54554920	C	A	54554920	2	1	79	1	0	0	0	0	0	0	0	1	625	900	32	3		3	ANKFN1	17	54554920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34652	54554920	26640290	17485	27802											
C17orf67	339210	broad.mit.edu	37	chr17	54872520	54872520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcgcgatgctccagggCgagcaggtggtgcatgtatt	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54872520C>T	ENST00000575658.1	-	7	1456	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T|C17orf67_ENST00000397861.2_Missense_Mutation_p.A60T	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	84						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TGCTCCAGGGCGAGCAGGTGG	0.552																																						ENST00000397861.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7						c.(178-180)Gcc>Acc		chromosome 17 open reading frame 67							84	91	89					17																	54872520		2099	4233	6332	SO:0001583	missense	339210					extracellular region		g.chr17:54872520C>T	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.250G>A	17.37:g.54872520C>T	ENSP00000461483:p.Ala84Thr					C17orf67_ENST00000397862.2_Missense_Mutation_p.A84T|C17orf67_ENST00000575658.1_Missense_Mutation_p.A84T	p.A60T			Q0P5P2	CQ067_HUMAN			7	1457	-	Breast(9;2.49e-06)		84						Missense_Mutation	SNP	ENST00000575658.1	37	c.178G>A		.	.	.	.	.	.	.	.	.	.	C	3.782	-0.045429	0.07452	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.53	0.192	0.15134	.	1.869520	0.04652	U	0.407337	T	0.25344	0.0616	N	0.14661	0.345	0.23132	N	0.998242	B	0.17465	0.022	B	0.08055	0.003	T	0.17806	-1.0357	9	0.16896	T	0.51	-3.7325	8.1756	0.31281	0.0:0.4148:0.3711:0.2141	.	84	Q0P5P2	CQ067_HUMAN	T	84	.	ENSP00000380959:A84T	A	-	1	0	C17orf67	52227519	0.001000	0.12720	0.927000	0.36925	0.158000	0.22134	0.418000	0.21230	-0.098000	0.12285	-1.008000	0.02478	GCC		0.552	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		10	181	0	0	0	1	0	10	181					T	54872520	C	T	54872520	3	4	79	1	0	0	0	0	1	0	0	0	1881	768	27	1	98	1	C17orf67	17	54872520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317600	54872520	26322690	17486	27803											
C17orf67	339210	broad.mit.edu	37	chr17	54893177	54893177	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcaatgtcttcatcctgcCttggttcctctgcctcttgc	8	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	ENST00000575658.1	-	5	1273	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C|C17orf67_ENST00000397861.2_De_novo_Start_OutOfFrame	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	23						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TTCATCCTGCCTTGGTTCCTC	0.507																																						ENST00000397861.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7								chromosome 17 open reading frame 67							87	92	91					17																	54893177		2130	4243	6373	SO:0001583	missense	339210					extracellular region		g.chr17:54893177C>A	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.67G>T	17.37:g.54893177C>A	ENSP00000461483:p.Gly23Cys					C17orf67_ENST00000397862.2_Missense_Mutation_p.G23C|C17orf67_ENST00000575658.1_Missense_Mutation_p.G23C				Q0P5P2	CQ067_HUMAN			0	1274	-	Breast(9;2.49e-06)								Translation_Start_Site	SNP	ENST00000575658.1	37			.	.	.	.	.	.	.	.	.	.	C	6.632	0.485154	0.12641	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	3.37	2.39	0.29439	.	.	.	.	.	T	0.19805	0.0476	N	0.08118	0	0.20563	N	0.999885	D	0.58268	0.982	P	0.50490	0.642	T	0.05435	-1.0885	8	0.37606	T	0.19	-3.932	5.3929	0.16253	0.0:0.7225:0.0:0.2775	.	23	Q0P5P2	CQ067_HUMAN	C	23	.	ENSP00000380959:G23C	G	-	1	0	C17orf67	52248176	0.038000	0.19896	0.670000	0.29842	0.427000	0.31564	0.004000	0.13106	0.751000	0.32900	-0.271000	0.10264	GGC		0.507	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		41	163	1	0	4.07013e-28	1	4.72867e-28	41	163					A	54893177	C	A	54893177	3	1	79	1	0	0	0	0	1	0	0	0	1881	681	24	3	289	3	C17orf67	17	54893177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20657	54893177	26302033	17487	27804											
DGKE	8526	broad.mit.edu	37	chr17	54925319	54925319	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactcctcctatcaaagccCtacaactctgtactcttctc	2	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54925319C>T	ENST00000284061.3	+	5	961	c.781C>T	c.(781-783)Cta>Tta	p.L261L		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	261	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TATCAAAGCCCTACAACTCTG	0.383																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(781-783)Cta>Tta		diacylglycerol kinase, epsilon 64kDa							102	103	103					17																	54925319		2203	4300	6503	SO:0001819	synonymous_variant	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54925319C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.781C>T	17.37:g.54925319C>T							p.L261L	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			5	961	+	Breast(9;3.59e-07)		261			DAGKc.		Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	37	c.781C>T	CCDS11590.1																																																																																				0.383	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		25	430	0	0	0	1	0	25	430					T	54925319	C	T	54925319	2	4	79	1	0	0	0	0	0	0	0	1	4484	680	24	2		2	DGKE	17	54925319	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32142	54925319	26269891	17488	27805											
DGKE	8526	broad.mit.edu	37	chr17	54939214	54939214	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtattatagttctgaacatCggatactggggcggtggctg	15	6	1	1	rs202084326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54939214C>T	ENST00000284061.3	+	10	1527	c.1347C>T	c.(1345-1347)atC>atT	p.I449I		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	449					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTCTGAACATCGGATACTGGG	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		17460	0.0		0.001	False		,,,				2504	0.0					ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(1345-1347)atC>atT		diacylglycerol kinase, epsilon 64kDa							170	171	171					17																	54939214		2203	4300	6503	SO:0001819	synonymous_variant	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54939214C>T	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"diacylglycerol kinase, epsilon (64kD)"			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1347C>T	17.37:g.54939214C>T							p.I449I	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			10	1527	+	Breast(9;3.59e-07)		449					Q8TBM4|Q9UKQ3	Silent	SNP	ENST00000284061.3	37	c.1347C>T	CCDS11590.1																																																																																				0.458	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		167	702	0	0	0	1	0	167	702					T	54939214	C	T	54939214	2	4	79	1	0	0	0	0	0	0	0	1	4484	874	31	1		1	DGKE	17	54939214	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13895	54939214	26255996	17489	27806											
AKAP1	8165	broad.mit.edu	37	chr17	55183680	55183680	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcaaaggacgatgcggcGccagcacccccagtcgcaga	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55183680G>A	ENST00000337714.3	+	2	1088	c.855G>A	c.(853-855)gcG>gcA	p.A285A	AKAP1_ENST00000539273.1_Silent_p.A285A|AKAP1_ENST00000314126.3_Silent_p.A285A|AKAP1_ENST00000571629.1_Silent_p.A285A|AKAP1_ENST00000572557.1_Silent_p.A285A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	285					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)					ACGATGCGGCGCCAGCACCCC	0.572																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(853-855)gcG>gcA		A kinase (PRKA) anchor protein 1							85	87	86					17																	55183680		2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183680G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.855G>A	17.37:g.55183680G>A						AKAP1_ENST00000572557.1_Silent_p.A285A|AKAP1_ENST00000314126.3_Silent_p.A285A|AKAP1_ENST00000539273.1_Silent_p.A285A|AKAP1_ENST00000571629.1_Silent_p.A285A	p.A285A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	1088	+	Breast(9;5.46e-08)		285					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.855G>A	CCDS11594.1																																																																																				0.572	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			13	640	0	0	0	1	0	13	640					A	55183680	G	A	55183680	2	1	79	1	0	0	0	0	0	0	0	1	445	1074	38	1		1	AKAP1	17	55183680	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	244466	55183680	26011530	17490	27807											
MSI2	124540	broad.mit.edu	37	chr17	55335665	55335665	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttcgcagacccagcaAgtgtagataaagtattaggt	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55335665A>G	ENST00000284073.2	+	4	429	c.220A>G	c.(220-222)Agt>Ggt	p.S74G	MSI2_ENST00000322684.3_Missense_Mutation_p.S70G|MSI2_ENST00000416426.2_Missense_Mutation_p.S52G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	74	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGACCCAGCAAGTGTAGATAA	0.458			T	HOXA9	CML																																	ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(220-222)Agt>Ggt		musashi RNA-binding protein 2							180	165	170					17																	55335665		2203	4300	6503	SO:0001583	missense	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55335665A>G	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.220A>G	17.37:g.55335665A>G	ENSP00000284073:p.Ser74Gly					MSI2_ENST00000416426.2_Missense_Mutation_p.S52G|MSI2_ENST00000322684.3_Missense_Mutation_p.S70G	p.S74G	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	4	429	+	Breast(9;1.78e-08)		74			RRM 1.		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.220A>G	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.331261	0.41297	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684	D;D;D	0.85773	-2.03;-2.03;-2.03	4.78	4.78	0.61160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	D	0.90287	0.6962	M	0.67569	2.06	0.80722	D	1	D;B;B	0.53885	0.963;0.001;0.001	D;B;B	0.69824	0.966;0.002;0.009	D	0.89023	0.3436	10	0.32370	T	0.25	.	13.4938	0.61411	1.0:0.0:0.0:0.0	.	52;70;74	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	G	52;74;70	ENSP00000414671:S52G;ENSP00000284073:S74G;ENSP00000313616:S70G	ENSP00000284073:S74G	S	+	1	0	MSI2	52690664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.839000	0.75364	1.780000	0.52325	0.523000	0.50628	AGT		0.458	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			122	582	0	0	0	1	0	122	582					G	55335665	A	G	55335665	3	3	79	1	0	0	0	0	1	0	0	0	9917	72	3	4	284	4	MSI2	17	55335665	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	151985	55335665	25859545	17491	27808											
MSI2	124540	broad.mit.edu	37	chr17	55752391	55752391	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacagcccaggacctgtcgcCgatctctacggccctgccag	10	17	1	0	rs141534185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55752391C>T	ENST00000284073.2	+	12	1058	c.849C>T	c.(847-849)gcC>gcT	p.A283A	MSI2_ENST00000442934.2_Silent_p.A222A|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000416426.2_Silent_p.A279A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	283						cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GACCTGTCGCCGATCTCTACG	0.682			T	HOXA9	CML								C|||	1	0.000199681	0.0	0.0	5008	,	,		15376	0.0		0.001	False		,,,				2504	0.0					ENST00000284073.2				Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7						c.(847-849)gcC>gcT		musashi RNA-binding protein 2		C		0,4406		0,0,2203	48	58	55		849	2	1	17	dbSNP_134	55	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	MSI2	NM_138962.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		283/329	55752391	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	0					cytoplasm	nucleotide binding|RNA binding	g.chr17:55752391C>T	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	18585	protein-coding gene	gene with protein product		607897	"musashi homolog 2 (Drosophila)"			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.849C>T	17.37:g.55752391C>T						MSI2_ENST00000416426.2_Silent_p.A279A|MSI2_ENST00000442934.2_Silent_p.A222A|MSI2_ENST00000579505.1_3'UTR	p.A283A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	12	1058	+	Breast(9;1.78e-08)		283					Q7Z6M7|Q8N9T4	Silent	SNP	ENST00000284073.2	37	c.849C>T	CCDS11596.1																																																																																				0.682	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			15	896	0	0	0	1	0	15	896					T	55752391	C	T	55752391	2	4	79	1	0	0	0	0	0	0	0	1	9917	639	23	1		1	MSI2	17	55752391	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416726	55752391	25442819	17492	27809											
MRPS23	51649	broad.mit.edu	37	chr17	55917297	55917297	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgtgactacctccgtgttgCttaaaagaccagatttaagt	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55917297C>A	ENST00000313608.8	-	5	466		c.e5-1			NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23						translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTCCGTGTTGCTTAAAAGACC	0.403																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.e5-1		mitochondrial ribosomal protein S23							105	90	95					17																	55917297		2203	4300	6503	SO:0001630	splice_region_variant	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55917297C>A	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"Mitochondrial ribosomal proteins / small subunits"	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.421-1G>T	17.37:g.55917297C>A								NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			5	466	-	Breast(9;8.75e-08)							B2R6V3|Q96Q24|Q9BWH8|Q9P053	Splice_Site	SNP	ENST00000313608.8	37		CCDS11598.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528459	0.44969	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.708	0.77602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS23	53272296	0.930000	0.31532	0.453000	0.27007	0.010000	0.07245	0.503000	0.22610	2.781000	0.95711	0.655000	0.94253	.		0.403	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070	Intron	56	284	1	0	1.00798e-23	1	1.14783e-23	56	284					A	55917297	C	A	55917297	5	1	79	1	0	0	0	0	0	0	1	0	9875	811	28	3	156	3	MRPS23	17	55917297	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	164906	55917297	25277913	17493	27810											
VEZF1	7716	broad.mit.edu	37	chr17	56058141	56058141	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttggtggcaaaggcagcagTgcacgtctgcatgagggagg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56058141T>C	ENST00000581208.1	-	4	839	c.799A>G	c.(799-801)Act>Gct	p.T267A	VEZF1_ENST00000584396.1_Missense_Mutation_p.T258A	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	267					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AAGGCAGCAGTGCACGTCTGC	0.448																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(772-774)Act>Gct		vascular endothelial zinc finger 1							87	71	76					17																	56058141		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56058141T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.799A>G	17.37:g.56058141T>C	ENSP00000462337:p.Thr267Ala					VEZF1_ENST00000581208.1_Missense_Mutation_p.T267A	p.T258A			Q14119	VEZF1_HUMAN			4	860	-			267						Missense_Mutation	SNP	ENST00000581208.1	37	c.772A>G	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525295	0.44969	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.043175	0.85682	D	0.000000	T	0.52125	0.1715	L	0.28274	0.84	0.80722	D	1	B	0.25609	0.13	B	0.24541	0.054	T	0.51220	-0.8733	9	0.56958	D	0.05	-2.6976	16.2214	0.82262	0.0:0.0:0.0:1.0	.	267	Q14119	VEZF1_HUMAN	A	267	.	ENSP00000258963:T267A	T	-	1	0	VEZF1	53413140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.135000	0.64777	2.232000	0.73038	0.523000	0.50628	ACT		0.448	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			6	223	0	0	0	1	0	6	223					C	56058141	T	C	56058141	3	2	79	1	0	0	0	0	1	0	0	0	17209	1696	59	4	778	4	VEZF1	17	56058141	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140844	56058141	25137069	17494	27811											
OR4D2	124538	broad.mit.edu	37	chr17	56247439	56247439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgaacactcagctctgGgtggggctggtggtagccac	15	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247439G>T	ENST00000545221.1	+	1	423	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAGCTCTGGGTGGGGCTGG	0.592																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(421-423)tgG>tgT		olfactory receptor, family 4, subfamily D, member 2							91	91	91					17																	56247439		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247439G>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.423G>T	17.37:g.56247439G>T	ENSP00000441354:p.Trp141Cys						p.W141C	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	423	+			141					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.423G>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.194430	0.00299	.	.	ENSG00000255713	ENST00000545221	T	0.00021	9.03	5.71	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	N	0.000012	T	0.00012	0.0000	N	0.00000	-4.2	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.54649	-0.8262	10	0.02654	T	1	-6.0013	4.3334	0.11075	0.0:0.1575:0.1815:0.661	.	141	P58180	OR4D2_HUMAN	C	141	ENSP00000441354:W141C	ENSP00000441354:W141C	W	+	3	0	OR4D2	53602438	0.000000	0.05858	1.000000	0.80357	0.659000	0.38960	-0.822000	0.04448	1.102000	0.41551	-0.311000	0.09066	TGG		0.592	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			111	488	1	0	1.81242e-41	1	2.20198e-41	111	488					T	56247439	G	T	56247439	3	4	79	1	0	0	0	0	1	0	0	0	11098	1241	43	3	425	3	OR4D2	17	56247439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189298	56247439	24947771	17495	27812											
OR4D2	124538	broad.mit.edu	37	chr17	56247902	56247902	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaaccaggacatgcagGcagcagtgagaagattaggg	16	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247902G>T	ENST00000545221.1	+	1	886	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A296T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	0.512																																						ENST00000545221.1																			1	Substitution - Missense(1)	p.A296T(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(886-888)Gca>Tca		olfactory receptor, family 4, subfamily D, member 2							101	101	101					17																	56247902		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247902G>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.886G>T	17.37:g.56247902G>T	ENSP00000441354:p.Ala296Ser						p.A296S	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	886	+			296					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.886G>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	1.950	-0.441560	0.04604	.	.	ENSG00000255713	ENST00000545221	T	0.36520	1.25	5.65	4.58	0.56647	.	0.124396	0.36482	N	0.002563	T	0.14184	0.0343	N	0.05259	-0.085	0.26979	N	0.965404	B	0.14012	0.009	B	0.15870	0.014	T	0.27331	-1.0077	10	0.09338	T	0.73	-12.4766	6.156	0.20338	0.092:0.0:0.6791:0.2289	.	296	P58180	OR4D2_HUMAN	S	296	ENSP00000441354:A296S	ENSP00000441354:A296S	A	+	1	0	OR4D2	53602901	0.002000	0.14202	1.000000	0.80357	0.791000	0.44710	-0.003000	0.12901	2.825000	0.97269	0.609000	0.83330	GCA		0.512	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			32	596	1	0	7.63215e-27	1	8.81417e-27	32	596					T	56247902	G	T	56247902	3	4	79	1	0	0	0	0	1	0	0	0	11098	1203	42	3	888	3	OR4D2	17	56247902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	463	56247902	24947308	17496	27813											
EPX	8288	broad.mit.edu	37	chr17	56270749	56270749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcaagcagcggcttcGcagcggttcagccagcccca	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56270749G>A	ENST00000225371.5	+	3	298	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	63					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)	p.R63H(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAGCGGCTTCGCAGCGGTTCA	0.612																																						ENST00000225371.5																			1	Substitution - Missense(1)	p.R63H(1)	large_intestine(1)	breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(187-189)cGc>cAc		eosinophil peroxidase							95	95	95					17																	56270749		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56270749G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.188G>A	17.37:g.56270749G>A	ENSP00000225371:p.Arg63His						p.R63H	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			3	298	+			63					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.188G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513668	0.27123	.	.	ENSG00000121053	ENST00000225371	T	0.71103	-0.54	4.86	-6.89	0.01660	.	1.143690	0.06082	N	0.662044	T	0.59321	0.2185	L	0.61387	1.9	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.50915	-0.8771	10	0.52906	T	0.07	-2.2677	3.4732	0.07575	0.4946:0.108:0.2882:0.1092	.	63	P11678	PERE_HUMAN	H	63	ENSP00000225371:R63H	ENSP00000225371:R63H	R	+	2	0	EPX	53625748	0.000000	0.05858	0.015000	0.15790	0.419000	0.31324	-0.761000	0.04751	-1.086000	0.03084	0.549000	0.68633	CGC		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		113	737	0	0	0	1	0	113	737					A	56270749	G	A	56270749	3	1	79	1	0	0	0	0	1	0	0	0	5218	1087	38	1	198	1	EPX	17	56270749	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22847	56270749	24924461	17497	27814											
EPX	8288	broad.mit.edu	37	chr17	56271324	56271324	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcccacccatggctgcagGaggagacccttgctaggggc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	ENST00000225371.5	+	5	575	c.465G>A	c.(463-465)aaG>aaA	p.K155K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	155					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)	ATGGCTGCAGGAGGAGACCCT	0.672																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.e5-1		eosinophil peroxidase							32	34	33					17																	56271324		2203	4300	6503	SO:0001630	splice_region_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56271324G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.465-1G>A	17.37:g.56271324G>A							p.K155_splice	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			5	575	+			155					Q4TVP3	Splice_Site	SNP	ENST00000225371.5	37	c.464_splice	CCDS11602.1																																																																																				0.672	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	Silent	51	233	0	0	0	1	0	51	233					A	56271324	G	A	56271324	5	1	79	1	0	0	0	0	0	0	1	0	5218	1188	41	2	483	2	EPX	17	56271324	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	575	56271324	24923886	17498	27815											
EPX	8288	broad.mit.edu	37	chr17	56274612	56274612	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcgcatcccctgcttcCtggcaggtcagacagggagg	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56274612C>A	ENST00000225371.5	+	7	1224	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	372					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)	CCCCTGCTTCCTGGCAGGTCA	0.622																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1114-1116)Ctg>Atg		eosinophil peroxidase							44	46	45					17																	56274612		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56274612C>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1114C>A	17.37:g.56274612C>A	ENSP00000225371:p.Leu372Met						p.L372M	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			7	1224	+			372					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1114C>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961240	0.53400	.	.	ENSG00000121053	ENST00000225371	T	0.75154	-0.91	4.86	3.9	0.45041	.	0.304053	0.31438	N	0.007660	D	0.83695	0.5310	M	0.80183	2.485	0.43149	D	0.994916	D	0.76494	0.999	D	0.72982	0.979	D	0.83894	0.0286	10	0.59425	D	0.04	-8.0465	7.8255	0.29313	0.0:0.8096:0.0:0.1904	.	372	P11678	PERE_HUMAN	M	372	ENSP00000225371:L372M	ENSP00000225371:L372M	L	+	1	2	EPX	53629611	0.405000	0.25336	1.000000	0.80357	0.974000	0.67602	0.042000	0.13949	1.185000	0.42971	0.462000	0.41574	CTG		0.622	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		37	298	1	0	3.38236e-24	1	3.86174e-24	37	298					A	56274612	C	A	56274612	3	1	79	1	0	0	0	0	1	0	0	0	5218	680	24	3	1140	3	EPX	17	56274612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3288	56274612	24920598	17499	27816											
EPX	8288	broad.mit.edu	37	chr17	56276417	56276417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgacacccgatcaacGgaaacccccaaactggcagc	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56276417G>A	ENST00000225371.5	+	8	1247	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	379					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)	CCCGATCAACGGAAACCCCCA	0.567																																						ENST00000225371.5																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1135-1137)acG>acA		eosinophil peroxidase							75	66	69					17																	56276417		2203	4300	6503	SO:0001819	synonymous_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56276417G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1137G>A	17.37:g.56276417G>A							p.T379T	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			8	1247	+			379					Q4TVP3	Silent	SNP	ENST00000225371.5	37	c.1137G>A	CCDS11602.1																																																																																				0.567	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		42	160	0	0	0	1	0	42	160					A	56276417	G	A	56276417	2	1	79	1	0	0	0	0	0	0	0	1	5218	1103	39	1		1	EPX	17	56276417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1805	56276417	24918793	17500	27817											
EPX	8288	broad.mit.edu	37	chr17	56281654	56281654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcagaatttccttgtctcGaattatatgtgacaataccg	8	8	1	2	rs376090047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56281654G>A	ENST00000225371.5	+	12	2128	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	673					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)	p.R673Q(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TCCTTGTCTCGAATTATATGT	0.512																																						ENST00000225371.5																			1	Substitution - Missense(1)	p.R673Q(1)	endometrium(1)	breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(2017-2019)cGa>cAa		eosinophil peroxidase		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114	100	105		2018	5.7	1	17		105	0,8600		0,0,4300	no	missense	EPX	NM_000502.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	673/716	56281654	1,13005	2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56281654G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2018G>A	17.37:g.56281654G>A	ENSP00000225371:p.Arg673Gln						p.R673Q	NM_000502.4	NP_000493.1	P11678	PERE_HUMAN			12	2128	+			673					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.2018G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155851	0.94686	2.27E-4	0.0	ENSG00000121053	ENST00000225371	T	0.74737	-0.87	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	M	0.85945	2.785	0.58432	D	0.999998	D	0.76494	0.999	P	0.56563	0.801	D	0.87659	0.2533	10	0.87932	D	0	-2.5207	17.2336	0.86991	0.0:0.0:1.0:0.0	.	673	P11678	PERE_HUMAN	Q	673	ENSP00000225371:R673Q	ENSP00000225371:R673Q	R	+	2	0	EPX	53636653	0.988000	0.35896	0.996000	0.52242	0.597000	0.36814	4.535000	0.60629	2.660000	0.90430	0.655000	0.94253	CGA		0.512	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502		75	359	0	0	0	1	0	75	359					A	56281654	G	A	56281654	3	1	79	1	0	0	0	0	1	0	0	0	5218	1058	37	1	2064	1	EPX	17	56281654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5237	56281654	24913556	17501	27818											
MKS1	54903	broad.mit.edu	37	chr17	56292170	56292170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagaatgaaggcacctcGctggctgcagtggtcattct	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56292170G>A	ENST00000393119.2	-	5	521	c.447C>T	c.(445-447)agC>agT	p.S149S	MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000546108.1_Intron|MKS1_ENST00000313863.6_Silent_p.S149S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	149					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						AAGGCACCTCGCTGGCTGCAG	0.592																																						ENST00000393119.2																			0				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(445-447)agC>agT		Meckel syndrome, type 1							44	46	46					17																	56292170		2109	4229	6338	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56292170G>A	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.447C>T	17.37:g.56292170G>A						MKS1_ENST00000537529.2_Silent_p.S139S|MKS1_ENST00000337050.7_Silent_p.S149S|MKS1_ENST00000313863.6_Silent_p.S149S|MKS1_ENST00000546108.1_Intron	p.S149S	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN			5	521	-			149					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.447C>T	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431037	0.43122	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.74	-11.5	0.00074	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.28699	N	0.90415	.	.	.	.	.	.	T	0.11372	-1.0590	4	.	.	.	-9.958	8.0798	0.30737	0.6261:0.2194:0.0836:0.0709	.	.	.	.	V	150	.	.	A	-	2	0	MKS1	53647169	0.000000	0.05858	0.032000	0.17829	0.813000	0.45954	-3.171000	0.00573	-2.873000	0.00322	-0.366000	0.07423	GCG		0.592	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		15	113	0	0	0	1	0	15	113					A	56292170	G	A	56292170	2	1	79	1	0	0	0	0	0	0	0	1	9650	1078	38	1		1	MKS1	17	56292170	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10516	56292170	24903040	17502	27819											
LPO	4025	broad.mit.edu	37	chr17	56326965	56326965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccaacagggctctggCgcgctggctgcccgcggagt	16	16	1	0	rs140216571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326965C>T	ENST00000262290.4	+	6	798	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPO_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000421678.2_Missense_Mutation_p.A78V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	161					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGGGCTCTGGCGCGCTGGCTG	0.716																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(481-483)gCg>gTg		lactoperoxidase							14	17	16					17																	56326965		2153	4215	6368	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56326965C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.482C>T	17.37:g.56326965C>T	ENSP00000262290:p.Ala161Val					LPO_ENST00000543544.1_Missense_Mutation_p.A102V|LPO_ENST00000582328.1_Missense_Mutation_p.A78V|LPO_ENST00000421678.2_Missense_Mutation_p.A78V	p.A161V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			6	798	+			161					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.482C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609118	0.96637	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.70045	-0.45;-0.45;-0.45	5.45	5.45	0.79879	.	0.165981	0.53938	D	0.000050	T	0.74344	0.3704	L	0.48218	1.51	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;0.983;0.998;0.999	P;P;P;P	0.60173	0.735;0.468;0.806;0.87	T	0.70799	-0.4774	10	0.30078	T	0.28	.	18.2787	0.90092	0.0:1.0:0.0:0.0	.	78;78;102;161	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	V	161;78;102	ENSP00000262290:A161V;ENSP00000400245:A78V;ENSP00000445344:A102V	ENSP00000262290:A161V	A	+	2	0	LPO	53681964	0.934000	0.31675	1.000000	0.80357	0.977000	0.68977	0.792000	0.26929	2.543000	0.85770	0.655000	0.94253	GCG		0.716	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			30	131	0	0	0	1	0	30	131					T	56326965	C	T	56326965	3	4	79	1	0	0	0	0	1	0	0	0	8960	768	27	1	500	1	LPO	17	56326965	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34795	56326965	24868245	17503	27820											
LPO	4025	broad.mit.edu	37	chr17	56326984	56326984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgctggctgcccgcggaGtacgaggacgggctctccct	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326984G>T	ENST00000262290.4	+	6	817	c.501G>T	c.(499-501)gaG>gaT	p.E167D	LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000421678.2_Missense_Mutation_p.E84D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	167					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCCCGCGGAGTACGAGGACG	0.726																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(499-501)gaG>gaT		lactoperoxidase							14	16	15					17																	56326984		2154	4238	6392	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56326984G>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.501G>T	17.37:g.56326984G>T	ENSP00000262290:p.Glu167Asp					LPO_ENST00000543544.1_Missense_Mutation_p.E108D|LPO_ENST00000582328.1_Missense_Mutation_p.E84D|LPO_ENST00000421678.2_Missense_Mutation_p.E84D	p.E167D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			6	817	+			167					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.501G>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759121	0.69763	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.68765	-0.35;-0.35;-0.35	5.45	0.544	0.17185	.	0.164449	0.52532	D	0.000062	T	0.48537	0.1505	L	0.39147	1.195	0.37990	D	0.93387	B;B;B;B	0.26363	0.046;0.021;0.147;0.147	B;B;B;B	0.33121	0.063;0.068;0.112;0.158	T	0.18335	-1.0340	10	0.15066	T	0.55	.	2.1383	0.03768	0.213:0.1522:0.4796:0.1552	.	84;84;108;167	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	D	167;84;108	ENSP00000262290:E167D;ENSP00000400245:E84D;ENSP00000445344:E108D	ENSP00000262290:E167D	E	+	3	2	LPO	53681983	0.999000	0.42202	0.998000	0.56505	0.986000	0.74619	0.577000	0.23758	0.621000	0.30232	0.655000	0.94253	GAG		0.726	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			24	121	1	0	3.6726e-16	1	4.02855e-16	24	121					T	56326984	G	T	56326984	3	4	79	1	0	0	0	0	1	0	0	0	8960	1020	36	3	519	3	LPO	17	56326984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	56326984	24868226	17504	27821											
LPO	4025	broad.mit.edu	37	chr17	56342265	56342265	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcctggatgagaattatcaGccatgggggccagaaccaga	13	10	1	3	rs552696726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56342265G>T	ENST00000262290.4	+	10	1765	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	LPO_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000421678.2_Missense_Mutation_p.Q400H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	483					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGAATTATCAGCCATGGGGGC	0.522																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1447-1449)caG>caT		lactoperoxidase							98	79	86					17																	56342265		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56342265G>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1449G>T	17.37:g.56342265G>T	ENSP00000262290:p.Gln483His					LPO_ENST00000543544.1_Missense_Mutation_p.Q424H|LPO_ENST00000582328.1_Missense_Mutation_p.Q400H|LPO_ENST00000421678.2_Missense_Mutation_p.Q400H	p.Q483H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			10	1765	+			483					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1449G>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020350	0.54576	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.73363	-0.74;-0.74;-0.74	6.17	3.16	0.36331	.	0.304519	0.34750	N	0.003712	T	0.76385	0.3980	M	0.72479	2.2	0.36809	D	0.885762	B;P	0.42735	0.452;0.788	B;P	0.46659	0.36;0.523	T	0.79848	-0.1630	10	0.72032	D	0.01	-13.7066	10.9003	0.47047	0.2004:0.0:0.7996:0.0	.	400;483	E7EMJ3;P22079	.;PERL_HUMAN	H	483;400;424;228	ENSP00000262290:Q483H;ENSP00000400245:Q400H;ENSP00000445344:Q424H	ENSP00000262290:Q483H	Q	+	3	2	LPO	53697264	0.467000	0.25831	0.997000	0.53966	0.980000	0.70556	0.126000	0.15769	0.500000	0.27991	0.655000	0.94253	CAG		0.522	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			66	218	1	0	8.3131e-28	1	9.64569e-28	66	218					T	56342265	G	T	56342265	3	4	79	1	0	0	0	0	1	0	0	0	8960	962	34	3	1483	3	LPO	17	56342265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15281	56342265	24852945	17505	27822											
LPO	4025	broad.mit.edu	37	chr17	56343534	56343534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaattgatcctctggtgCggggcctgctggccaagaaa	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56343534C>T	ENST00000262290.4	+	11	1856	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LPO_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000421678.2_Missense_Mutation_p.R431W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	514			R -> Q (in dbSNP:rs8178401). {ECO:0000269|Ref.3}.		defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCCTCTGGTGCGGGGCCTGCT	0.532																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1540-1542)Cgg>Tgg		lactoperoxidase							54	47	50					17																	56343534		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343534C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1540C>T	17.37:g.56343534C>T	ENSP00000262290:p.Arg514Trp					LPO_ENST00000543544.1_Missense_Mutation_p.R455W|LPO_ENST00000582328.1_Missense_Mutation_p.R431W|LPO_ENST00000421678.2_Missense_Mutation_p.R431W	p.R514W	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			11	1856	+			514		R -> Q (in dbSNP:rs8178401).			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1540C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101119	0.76983	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.70986	-0.53;-0.53;-0.53	6.06	3.95	0.45737	.	0.049849	0.85682	D	0.000000	D	0.88142	0.6357	H	0.95712	3.71	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91681	0.5358	10	0.87932	D	0	-36.0285	14.2005	0.65699	0.2853:0.7147:0.0:0.0	.	431;514	E7EMJ3;P22079	.;PERL_HUMAN	W	514;431;455;259	ENSP00000262290:R514W;ENSP00000400245:R431W;ENSP00000445344:R455W	ENSP00000262290:R514W	R	+	1	2	LPO	53698533	0.039000	0.19947	0.954000	0.39281	0.996000	0.88848	0.408000	0.21065	1.522000	0.49001	0.655000	0.94253	CGG		0.532	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			32	155	0	0	0	1	0	32	155					T	56343534	C	T	56343534	3	4	79	1	0	0	0	0	1	0	0	0	8960	759	27	1	1578	1	LPO	17	56343534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1269	56343534	24851676	17506	27823											
MPO	4353	broad.mit.edu	37	chr17	56355451	56355451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggcaagccgggcaggagCggaagaacgggatgcagtcg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56355451C>T	ENST00000225275.3	-	7	1117	c.941G>A	c.(940-942)cGc>cAc	p.R314H	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.R346H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	314					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)	CGGGCAGGAGCGGAAGAACGG	0.622																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1036-1038)cGc>cAc		myeloperoxidase	Cefdinir(DB00535)						96	88	91					17																	56355451		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355451C>T		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.941G>A	17.37:g.56355451C>T	ENSP00000225275:p.Arg314His					MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.R314H	p.R346H			P05164	PERM_HUMAN			6	1213	-			314					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1037G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382585	0.95967	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	D;D	0.84660	-1.88;-1.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	H	0.98559	4.265	0.80722	D	1	D	0.55800	0.973	P	0.48089	0.566	D	0.95837	0.8863	10	0.87932	D	0	-24.6902	18.0012	0.89198	0.0:1.0:0.0:0.0	.	314	P05164	PERM_HUMAN	H	346;314	ENSP00000344419:R346H;ENSP00000225275:R314H	ENSP00000225275:R314H	R	-	2	0	MPO	53710450	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.046000	0.71029	2.518000	0.84900	0.561000	0.74099	CGC		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			101	477	0	0	0	1	0	101	477					T	56355451	C	T	56355451	3	4	79	1	0	0	0	0	1	0	0	0	9773	768	27	1	1320	1	MPO	17	56355451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11917	56355451	24839759	17507	27824											
MPO	4353	broad.mit.edu	37	chr17	56356920	56356920	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggtgatggtgcggtatttgTcctgctccgggcaagtcacc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56356920T>C	ENST00000225275.3	-	4	688	c.512A>G	c.(511-513)gAc>gGc	p.D171G	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.D171G	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	171					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)	GCGGTATTTGTCCTGCTCCGG	0.652																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(511-513)gAc>gGc		myeloperoxidase	Cefdinir(DB00535)						35	33	34					17																	56356920		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56356920T>C		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.512A>G	17.37:g.56356920T>C	ENSP00000225275:p.Asp171Gly					MPO_ENST00000225275.3_Missense_Mutation_p.D171G	p.D171G			P05164	PERM_HUMAN			4	688	-			171					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.512A>G	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450950	0.26074	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72505	-0.66;-0.66	5.04	3.95	0.45737	.	0.304797	0.36101	N	0.002783	T	0.65565	0.2703	M	0.72118	2.19	0.22779	N	0.998745	B	0.31968	0.349	B	0.30316	0.114	T	0.61860	-0.6976	10	0.49607	T	0.09	-28.6647	8.6186	0.33847	0.0:0.0911:0.0:0.9089	.	171	P05164	PERM_HUMAN	G	171	ENSP00000344419:D171G;ENSP00000225275:D171G	ENSP00000225275:D171G	D	-	2	0	MPO	53711919	0.174000	0.23070	0.965000	0.40720	0.175000	0.22909	0.275000	0.18698	1.904000	0.55121	0.379000	0.24179	GAC		0.652	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			37	160	0	0	0	1	0	37	160					C	56356920	T	C	56356920	3	2	79	1	0	0	0	0	1	0	0	0	9773	1667	58	4	1761	4	MPO	17	56356920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1469	56356920	24838290	17508	27825											
BZRAP1	9256	broad.mit.edu	37	chr17	56387922	56387922	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcctccttggcacatcTcggtatttggcgcctgctgg	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56387922T>C	ENST00000343736.4	-	20	3813	c.3650A>G	c.(3649-3651)gAg>gGg	p.E1217G	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1217G			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1217						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)					TTGGCACATCTCGGTATTTGG	0.647																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3649-3651)gAg>gGg		benzodiazapine receptor (peripheral) associated protein 1							42	48	46					17																	56387922		2202	4300	6502	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387922T>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3650A>G	17.37:g.56387922T>C	ENSP00000345824:p.Glu1217Gly					BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1157G|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1217G	p.E1217G	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			20	4520	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1217					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3650A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417196	0.62511	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.88509	-2.39;-2.39;-2.39	5.71	5.71	0.89125	.	0.390780	0.29515	N	0.011935	D	0.87826	0.6275	L	0.55481	1.735	0.09310	N	1	B;P;P	0.40066	0.155;0.592;0.701	B;B;B	0.42959	0.096;0.403;0.388	T	0.83166	-0.0096	10	0.56958	D	0.05	.	12.3744	0.55271	0.0:0.0:0.0:1.0	.	1217;1157;1217	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	G	1217;1217;1157	ENSP00000347929:E1217G;ENSP00000345824:E1217G;ENSP00000268893:E1157G	ENSP00000268893:E1157G	E	-	2	0	BZRAP1	53742921	0.020000	0.18652	0.008000	0.14137	0.002000	0.02628	1.988000	0.40697	2.180000	0.69256	0.379000	0.24179	GAG		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		69	351	0	0	0	1	0	69	351					C	56387922	T	C	56387922	3	2	79	1	0	0	0	0	1	0	0	0	1581	1551	54	4	1971	4	BZRAP1	17	56387922	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31002	56387922	24807288	17509	27826											
BZRAP1	9256	broad.mit.edu	37	chr17	56389337	56389337	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcccttggggtgggaGctgagcctccacttgggcct	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389337G>T	ENST00000343736.4	-	17	3008	c.2845C>A	c.(2845-2847)Ctc>Atc	p.L949I	BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I|BZRAP1_ENST00000355701.3_Missense_Mutation_p.L949I			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	949	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGGTGGGAGCTGAGCCTCC	0.657																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2845-2847)Ctc>Atc		benzodiazapine receptor (peripheral) associated protein 1							37	39	38					17																	56389337		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389337G>T	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.2845C>A	17.37:g.56389337G>T	ENSP00000345824:p.Leu949Ile					BZRAP1_ENST00000268893.6_Missense_Mutation_p.L889I|BZRAP1_ENST00000343736.4_Missense_Mutation_p.L949I	p.L949I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			17	3715	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		949			Fibronectin type-III 2.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2845C>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165512	0.38217	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04706	3.57;3.6;3.6	4.95	3.95	0.45737	Fibronectin, type III (2);	0.398397	0.21514	N	0.073340	T	0.04815	0.0130	L	0.33485	1.01	0.24983	N	0.991587	B;B;B	0.14805	0.001;0.011;0.003	B;B;B	0.17433	0.003;0.018;0.009	T	0.37337	-0.9710	10	0.16896	T	0.51	.	13.5894	0.61951	0.0:0.0:0.8384:0.1616	.	949;889;949	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	I	949;949;889	ENSP00000347929:L949I;ENSP00000345824:L949I;ENSP00000268893:L889I	ENSP00000268893:L889I	L	-	1	0	BZRAP1	53744336	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.478000	0.66806	1.167000	0.42706	0.455000	0.32223	CTC		0.657	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		12	307	1	0	4.3838e-07	1	4.54049e-07	12	307					T	56389337	G	T	56389337	3	4	79	1	0	0	0	0	1	0	0	0	1581	971	34	3	2788	3	BZRAP1	17	56389337	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1415	56389337	24805873	17510	27827											
BZRAP1	9256	broad.mit.edu	37	chr17	56389920	56389920	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacactgctttggcccccGctactgctgccacccccacc	6	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389920G>A	ENST00000343736.4	-	17	2425	c.2262C>T	c.(2260-2262)agC>agT	p.S754S	BZRAP1_ENST00000268893.6_Silent_p.S694S|BZRAP1_ENST00000355701.3_Silent_p.S754S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	754						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)					TTTGGCCCCCGCTACTGCTGC	0.642																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(2260-2262)agC>agT		benzodiazapine receptor (peripheral) associated protein 1							69	58	62					17																	56389920		2203	4300	6503	SO:0001819	synonymous_variant	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389920G>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2262C>T	17.37:g.56389920G>A						BZRAP1_ENST00000268893.6_Silent_p.S694S|BZRAP1_ENST00000343736.4_Silent_p.S754S	p.S754S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			17	3132	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		754					O75111|Q8N5W3	Silent	SNP	ENST00000343736.4	37	c.2262C>T	CCDS11605.1																																																																																				0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		86	394	0	0	0	1	0	86	394					A	56389920	G	A	56389920	2	1	79	1	0	0	0	0	0	0	0	1	1581	1078	38	1		1	BZRAP1	17	56389920	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	583	56389920	24805290	17511	27828											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-													caggggtgggctcggagggaCccccccgccttttcctctgt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																						ENST00000584437.1																			1	Deletion - Frameshift(1)	p.G659fs*41(1)	large_intestine(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1975-1977)gtfs		ring finger protein 43							64	77	72					17																	56435161		2203	4299	6502	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435161delC		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs					RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs	p.G659fs			Q68DV7	RNF43_HUMAN			8	3931	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		659			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.1976delG	CCDS11607.1																																																																																				0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		11	974						11	974	---	---	---	---	-	56435161	C	-	56435161	7	5	79	1	0	1	0	1	0	0	0	0	13545	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	45241	56435161	24760049	17512	27829											
RNF43	54894	broad.mit.edu	37	chr17	56435680	56435680	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccatggaccccctgtaggCtgatgtccgtgcagttgacc	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435680C>A	ENST00000584437.1	-	8	3412	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I			Q68DV7	RNF43_HUMAN	ring finger protein 43	486	Ser-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCTGTAGGCTGATGTCCGT	0.587																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1456-1458)aGc>aTc		ring finger protein 43							84	84	84					17																	56435680		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435680C>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1457G>T	17.37:g.56435680C>A	ENSP00000463069:p.Ser486Ile					RNF43_ENST00000581868.1_Missense_Mutation_p.S359I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S486I|RNF43_ENST00000577625.1_Missense_Mutation_p.S359I|RNF43_ENST00000407977.2_Missense_Mutation_p.S486I|RNF43_ENST00000500597.2_Missense_Mutation_p.S445I|RNF43_ENST00000583753.1_Missense_Mutation_p.S445I	p.S486I			Q68DV7	RNF43_HUMAN			8	3412	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		486			Ser-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1457G>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354749	0.41700	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.34667	1.35;1.41	4.69	4.69	0.59074	.	0.283745	0.41396	D	0.000883	T	0.51227	0.1662	L	0.36672	1.1	0.36562	D	0.872467	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.996;0.991	T	0.62358	-0.6871	10	0.87932	D	0	-19.8757	16.5861	0.84727	0.0:1.0:0.0:0.0	.	445;486;486	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	I	486;445	ENSP00000385328:S486I;ENSP00000441969:S445I	ENSP00000385328:S486I	S	-	2	0	RNF43	53790679	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	5.849000	0.69465	2.160000	0.67779	0.174000	0.16983	AGC		0.587	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		86	445	1	0	1.42074e-37	1	1.70676e-37	86	445					A	56435680	C	A	56435680	3	1	79	1	0	0	0	0	1	0	0	0	13545	797	28	3	902	3	RNF43	17	56435680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	519	56435680	24759530	17513	27830											
RNF43	54894	broad.mit.edu	37	chr17	56440681	56440681	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcacatgggccttttgGttcttgtacacaaactccat	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56440681G>A	ENST00000584437.1	-	4	2492	c.537C>T	c.(535-537)aaC>aaT	p.N179N	RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000577716.1_Silent_p.N179N|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Silent_p.N52N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000583753.1_Silent_p.N138N|RNF43_ENST00000577625.1_Silent_p.N52N			Q68DV7	RNF43_HUMAN	ring finger protein 43	179					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCCTTTTGGTTCTTGTACA	0.567																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(535-537)aaC>aaT		ring finger protein 43							130	128	128					17																	56440681		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56440681G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.537C>T	17.37:g.56440681G>A						RNF43_ENST00000581868.1_Silent_p.N52N|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Silent_p.N179N|RNF43_ENST00000577625.1_Silent_p.N52N|RNF43_ENST00000407977.2_Silent_p.N179N|RNF43_ENST00000500597.2_Silent_p.N138N|RNF43_ENST00000583753.1_Silent_p.N138N	p.N179N			Q68DV7	RNF43_HUMAN			4	2492	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		179					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.537C>T	CCDS11607.1																																																																																				0.567	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		94	401	0	0	0	1	0	94	401					A	56440681	G	A	56440681	2	1	79	1	0	0	0	0	0	0	0	1	13545	1252	44	2		2	RNF43	17	56440681	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5001	56440681	24754529	17514	27831											
HSF5	124535	broad.mit.edu	37	chr17	56557601	56557601	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactatctcgacgaaatgacCggtgaaattgtcctacagcc	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56557601C>T	ENST00000323777.3	-	2	687	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	193					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)					ACGAAATGACCGGTGAAATTG	0.428																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(577-579)cGg>cAg		heat shock transcription factor family member 5							71	65	67					17																	56557601		2203	4300	6503	SO:0001583	missense	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557601C>T	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.578G>A	17.37:g.56557601C>T	ENSP00000313243:p.Arg193Gln						p.R193Q	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	687	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		193					Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	c.578G>A	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742215	0.89573	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.49139	0.79	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000053	T	0.54598	0.1868	N	0.24115	0.695	0.44492	D	0.997434	D	0.76494	0.999	D	0.72625	0.978	T	0.51196	-0.8736	10	0.33940	T	0.23	.	16.3777	0.83410	0.0:1.0:0.0:0.0	.	193	Q4G112	HSF5_HUMAN	Q	93;193	ENSP00000313243:R193Q	ENSP00000313243:R193Q	R	-	2	0	HSF5	53912600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.274000	0.51631	2.646000	0.89796	0.655000	0.94253	CGG		0.428	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		74	298	0	0	0	1	0	74	298					T	56557601	C	T	56557601	3	4	79	1	0	0	0	0	1	0	0	0	7429	652	23	1	1232	1	HSF5	17	56557601	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	116920	56557601	24637609	17515	27832											
HSF5	124535	broad.mit.edu	37	chr17	56565462	56565462	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgcagtcccgccaccGccccccggcccgggcgggct	13	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56565462G>A	ENST00000323777.3	-	1	283	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	58					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)					tcccgccaccgccccccggcc	0.716																																						ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(172-174)ggC>ggT		heat shock transcription factor family member 5							6	8	7					17																	56565462		1869	3769	5638	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56565462G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.174C>T	17.37:g.56565462G>A							p.G58G	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			1	283	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		58					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.174C>T	CCDS32690.1																																																																																				0.716	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		23	95	0	0	0	1	0	23	95					A	56565462	G	A	56565462	2	1	79	1	0	0	0	0	0	0	0	1	7429	1074	38	1		1	HSF5	17	56565462	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7861	56565462	24629748	17516	27833											
MTMR4	9110	broad.mit.edu	37	chr17	56569901	56569901	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtcttcgtttggccaaccaGaattcacagtcacagttata	7	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56569901G>T	ENST00000323456.5	-	18	3505	c.3381C>A	c.(3379-3381)ttC>ttA	p.F1127L	MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1127					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAACCAGAATTCACAGT	0.453																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(3379-3381)ttC>ttA		myotubularin related protein 4							228	223	225					17																	56569901		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56569901G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3381C>A	17.37:g.56569901G>T	ENSP00000325285:p.Phe1127Leu					MTMR4_ENST00000579925.1_Missense_Mutation_p.F1070L	p.F1127L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			18	3505	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1127					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.3381C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988516	0.93106	.	.	ENSG00000108389	ENST00000323456	D	0.84800	-1.9	5.82	4.73	0.59995	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	0.94135	0.8119	H	0.95328	3.655	0.41506	D	0.988312	D	0.76494	0.999	D	0.83275	0.996	D	0.94967	0.8113	10	0.87932	D	0	.	11.6908	0.51514	0.1039:0.0:0.8961:0.0	.	1127	Q9NYA4	MTMR4_HUMAN	L	1127	ENSP00000325285:F1127L	ENSP00000325285:F1127L	F	-	3	2	MTMR4	53924900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.353000	0.66034	1.213000	0.43380	0.655000	0.94253	TTC		0.453	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		212	880	1	0	1.85597e-80	1	2.37377e-80	212	880					T	56569901	G	T	56569901	3	4	79	1	0	0	0	0	1	0	0	0	9987	933	33	3	214	3	MTMR4	17	56569901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4439	56569901	24625309	17517	27834											
MTMR4	9110	broad.mit.edu	37	chr17	56572543	56572543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgctagagacttgctttGgatgactggacaaccacatc	10	9	0	2	rs559247649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56572543G>A	ENST00000323456.5	-	16	3084	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	987					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACTTGCTTTGGATGACTGGA	0.507																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(2959-2961)cCa>cTa		myotubularin related protein 4							193	186	188					17																	56572543		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572543G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2960C>T	17.37:g.56572543G>A	ENSP00000325285:p.Pro987Leu					MTMR4_ENST00000579925.1_Missense_Mutation_p.P930L	p.P987L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3084	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		987					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.2960C>T	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656254	0.29425	.	.	ENSG00000108389	ENST00000323456	D	0.92647	-3.08	5.58	5.58	0.84498	.	0.804396	0.11951	N	0.513693	D	0.84552	0.5497	N	0.16478	0.41	0.39397	D	0.966519	B	0.02656	0.0	B	0.04013	0.001	T	0.76567	-0.2912	10	0.15499	T	0.54	.	11.8846	0.52594	0.0885:0.0:0.9115:0.0	.	987	Q9NYA4	MTMR4_HUMAN	L	987	ENSP00000325285:P987L	ENSP00000325285:P987L	P	-	2	0	MTMR4	53927542	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.504000	0.53347	2.627000	0.88993	0.555000	0.69702	CCA		0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		161	700	0	0	0	1	0	161	700					A	56572543	G	A	56572543	3	1	79	1	0	0	0	0	1	0	0	0	9987	1348	47	2	643	2	MTMR4	17	56572543	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2642	56572543	24622667	17518	27835											
MTMR4	9110	broad.mit.edu	37	chr17	56584573	56584573	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccgggtccagggcacagGctttagcaatggacgtgacc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56584573G>T	ENST00000323456.5	-	9	897	c.773C>A	c.(772-774)gCc>gAc	p.A258D	MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	258	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCACAGGCTTTAGCAAT	0.617																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(772-774)gCc>gAc		myotubularin related protein 4							60	58	59					17																	56584573		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56584573G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.773C>A	17.37:g.56584573G>T	ENSP00000325285:p.Ala258Asp					MTMR4_ENST00000579925.1_Missense_Mutation_p.A258D	p.A258D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			9	897	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		258			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.773C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482580	0.96307	.	.	ENSG00000108389	ENST00000323456	D	0.91068	-2.78	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.113387	0.64402	D	0.000011	D	0.96460	0.8845	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97001	0.9729	10	0.87932	D	0	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	258	Q9NYA4	MTMR4_HUMAN	D	258	ENSP00000325285:A258D	ENSP00000325285:A258D	A	-	2	0	MTMR4	53939572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.713000	0.92767	0.644000	0.83932	GCC		0.617	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		70	316	1	0	3.07281e-33	1	3.63882e-33	70	316					T	56584573	G	T	56584573	3	4	79	1	0	0	0	0	1	0	0	0	9987	1203	42	3	2858	3	MTMR4	17	56584573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12030	56584573	24610637	17519	27836											
MTMR4	9110	broad.mit.edu	37	chr17	56586165	56586165	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctcggcttagccgtgagaGccactcttggcactgcttaa	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56586165G>T	ENST00000323456.5	-	6	455	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	111					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCGTGAGAGCCACTCTTGG	0.587																																						ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(331-333)Ctc>Atc		myotubularin related protein 4							55	47	50					17																	56586165		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56586165G>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.331C>A	17.37:g.56586165G>T	ENSP00000325285:p.Leu111Ile					MTMR4_ENST00000579925.1_Missense_Mutation_p.L111I	p.L111I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			6	455	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		111					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.331C>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942278	0.34283	.	.	ENSG00000108389	ENST00000323456	D	0.82893	-1.66	5.91	4.76	0.60689	.	0.205916	0.42821	D	0.000659	T	0.79293	0.4421	L	0.50333	1.59	0.47547	D	0.999459	P	0.41313	0.745	B	0.39419	0.299	T	0.79988	-0.1571	10	0.44086	T	0.13	.	14.7036	0.69171	0.0825:0.0:0.9175:0.0	.	111	Q9NYA4	MTMR4_HUMAN	I	111	ENSP00000325285:L111I	ENSP00000325285:L111I	L	-	1	0	MTMR4	53941164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.297000	0.51810	2.813000	0.96785	0.655000	0.94253	CTC		0.587	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		51	161	1	0	8.72198e-27	1	1.00714e-26	51	161					T	56586165	G	T	56586165	3	4	79	1	0	0	0	0	1	0	0	0	9987	971	34	3	3312	3	MTMR4	17	56586165	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1592	56586165	24609045	17520	27837											
SEPT4	5414	broad.mit.edu	37	chr17	56598178	56598178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacagcagggatggggaagtCggtaccactttcccgagtca	14	10	1	0	rs369282254		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56598178C>T	ENST00000317268.3	-	11	1479	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	SEPT4_ENST00000426861.1_3'UTR|MTMR4_ENST00000579925.1_5'Flank|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N|SEPT4_ENST00000457347.2_Missense_Mutation_p.D450N|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|MTMR4_ENST00000323456.5_5'Flank|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|SEPT4_ENST00000579371.1_Intron	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	435					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)					ATGGGGAAGTCGGTACCACTT	0.537											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000457347.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1348-1350)Gac>Aac		septin 4		C	ASN/ASP,ASN/ASP,,ASN/ASP	0,4406		0,0,2203	151	148	149		1279,1303,,1246	5.6	1	17		149	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,utr-3,missense	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	23,23,,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging	427/471,435/479,,416/460	56598178	1,13005	2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56598178C>T	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.1303G>A	17.37:g.56598178C>T	ENSP00000321674:p.Asp435Asn		OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	SEPT4_ENST00000317268.3_Missense_Mutation_p.D435N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.D427N|SEPT4_ENST00000580844.1_Missense_Mutation_p.D336N|SEPT4_ENST00000579371.1_Intron|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000583114.1_Missense_Mutation_p.D288N|SEPT4_ENST00000317256.6_Missense_Mutation_p.D416N|SEPT4_ENST00000393086.1_Missense_Mutation_p.D416N	p.D450N	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN			12	1492	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		435					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.1348G>A	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532635	0.45073	0.0	1.16E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086	T;T;T;T	0.53206	0.63;0.64;0.63;0.64	5.62	5.62	0.85841	.	0.293457	0.38837	N	0.001547	T	0.61198	0.2328	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.928;1.0	D;D;D;B;D	0.83275	0.969;0.996;0.969;0.373;0.932	T	0.56414	-0.7983	10	0.39692	T	0.17	.	17.5005	0.87730	0.0:1.0:0.0:0.0	.	427;450;416;288;435	O43236-3;O43236-4;O43236-2;O43236-5;O43236	.;.;.;.;SEPT4_HUMAN	N	427;449;416;435;416	ENSP00000414779:D427N;ENSP00000321071:D416N;ENSP00000321674:D435N;ENSP00000376801:D416N	ENSP00000321071:D416N	D	-	1	0	SEPT4	53953177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.717000	0.84732	2.795000	0.96236	0.655000	0.94253	GAC		0.537	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		30	777	0	0	0	1	0	30	777					T	56598178	C	T	56598178	3	4	79	1	0	0	0	0	1	0	0	0	14116	884	31	1	141	1	SEPT4	17	56598178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12013	56598178	24597032	17521	27838											
SEPT4	5414	broad.mit.edu	37	chr17	56599357	56599357	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgagatgaagtacagGcagcagtgcaccctgttgtc	14	8	0	2	rs144640338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56599357G>A	ENST00000317268.3	-	6	944	c.768C>T	c.(766-768)tgC>tgT	p.C256C	SEPT4_ENST00000426861.1_Silent_p.C237C|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000580809.1_Silent_p.C138C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Silent_p.C237C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000579371.1_Silent_p.C157C	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	256	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGTACAGGCAGCAGTGCA	0.562																																						ENST00000426861.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(709-711)tgC>tgT		septin 4		G	,,,	0,4406		0,0,2203	175	145	155		744,768,711,711	4.9	1	17	dbSNP_134	155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	248/471,256/479,237/275,237/460	56599357	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56599357G>A	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.768C>T	17.37:g.56599357G>A						SEPT4_ENST00000317268.3_Silent_p.C256C|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Silent_p.C248C|SEPT4_ENST00000580844.1_Silent_p.C157C|SEPT4_ENST00000579371.1_Silent_p.C157C|SEPT4_ENST00000580809.1_Silent_p.C138C|SEPT4_ENST00000583114.1_Silent_p.C109C|SEPT4_ENST00000457347.2_Silent_p.C271C|SEPT4_ENST00000317256.6_Silent_p.C237C|SEPT4_ENST00000393086.1_Silent_p.C237C	p.C237C	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN			6	797	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		256					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	c.711C>T	CCDS11610.1																																																																																				0.562	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		69	321	0	0	0	1	0	69	321					A	56599357	G	A	56599357	2	1	79	1	0	0	0	0	0	0	0	1	14116	1195	42	2		2	SEPT4	17	56599357	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1179	56599357	24595853	17522	27839											
TEX14	56155	broad.mit.edu	37	chr17	56651552	56651552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctttggtgatcatacatgtCtttctctttcagttcctttg	6	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56651552C>A	ENST00000240361.8	-	23	3602	c.3517G>T	c.(3517-3519)Gac>Tac	p.D1173Y	TEX14_ENST00000389934.3_Missense_Mutation_p.D1167Y|TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y			Q8IWB6	TEX14_HUMAN	testis expressed 14	1173					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)					TCATACATGTCTTTCTCTTTC	0.353																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(3499-3501)Gac>Tac		testis expressed 14							338	279	299					17																	56651552		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56651552C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3517G>T	17.37:g.56651552C>A	ENSP00000240361:p.Asp1173Tyr					TEX14_ENST00000349033.5_Missense_Mutation_p.D1127Y|TEX14_ENST00000240361.8_Missense_Mutation_p.D1173Y	p.D1167Y	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			23	3616	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1173					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3499G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482421	0.63962	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.23552	1.9;1.9;1.9	5.51	4.53	0.55603	.	0.155857	0.45126	D	0.000384	T	0.36193	0.0958	L	0.32530	0.975	0.28234	N	0.92599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71656	0.943;0.972;0.974	T	0.12604	-1.0541	10	0.87932	D	0	.	9.7481	0.40459	0.0:0.9023:0.0:0.0977	.	1173;1127;1167	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Y	1173;1167;1127	ENSP00000240361:D1173Y;ENSP00000374584:D1167Y;ENSP00000268910:D1127Y	ENSP00000240361:D1173Y	D	-	1	0	TEX14	54006551	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.067000	0.30616	1.433000	0.47394	0.655000	0.94253	GAC		0.353	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			64	309	1	0	1.85204e-48	1	2.28596e-48	64	309					A	56651552	C	A	56651552	3	1	79	1	0	0	0	0	1	0	0	0	15830	913	32	3	1020	3	TEX14	17	56651552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52195	56651552	24543658	17523	27840											
TEX14	56155	broad.mit.edu	37	chr17	56679270	56679270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggagtccgtatctctgCactctggggctctcggttgg	15	10	3	0	rs549017164		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56679270C>T	ENST00000240361.8	-	13	1678	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	TEX14_ENST00000389934.3_Silent_p.V525V|TEX14_ENST00000349033.5_Silent_p.V525V			Q8IWB6	TEX14_HUMAN	testis expressed 14	531					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)					CGTATCTCTGCACTCTGGGGC	0.458																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(1573-1575)gtG>gtA		testis expressed 14							168	157	161					17																	56679270		2203	4300	6503	SO:0001819	synonymous_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56679270C>T	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.1593G>A	17.37:g.56679270C>T						TEX14_ENST00000349033.5_Silent_p.V525V|TEX14_ENST00000240361.8_Silent_p.V531V	p.V525V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			13	1692	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		531					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Silent	SNP	ENST00000240361.8	37	c.1575G>A	CCDS56042.1																																																																																				0.458	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			53	316	0	0	0	1	0	53	316					T	56679270	C	T	56679270	2	4	79	1	0	0	0	0	0	0	0	1	15830	697	25	2		2	TEX14	17	56679270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27718	56679270	24515940	17524	27841											
RAD51C	5889	broad.mit.edu	37	chr17	56772420	56772420	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtacagcactggaacttcttGagcaggagcatacccagggc	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56772420G>A	ENST00000337432.4	+	2	345	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	92	Interaction with RAD51B, RAD51D and XRCC3.|Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACTTCTTGAGCAGGAGCA	0.418								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													ENST00000337432.4																			0				upper_aerodigestive_tract(1)	1						c.(274-276)Gag>Aag	Homologous recombination	RAD51 paralog C							103	94	97					17																	56772420		2203	4300	6503	SO:0001583	missense	5889	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56772420G>A	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"Fanconi anemia, complementation groups"	9820	protein-coding gene	gene with protein product		602774	"RAD51 (S. cerevisiae) homolog C", "RAD51 homolog C (S. cerevisiae)"			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.274G>A	17.37:g.56772420G>A	ENSP00000336701:p.Glu92Lys					RAD51C_ENST00000421782.2_Missense_Mutation_p.E92K|RAD51C_ENST00000583539.1_Missense_Mutation_p.E92K|RAD51C_ENST00000487921.1_3'UTR	p.E92K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN			2	345	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		92					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.274G>A	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306102	0.60305	.	.	ENSG00000108384	ENST00000337432;ENST00000421782;ENST00000425173	T;T;T	0.38887	1.11;1.4;1.11	5.65	5.65	0.86999	DNA recombination and repair protein Rad51, C-terminal (1);	0.194459	0.56097	D	0.000035	T	0.39332	0.1074	L	0.46947	1.48	0.40003	D	0.975195	B;B;B	0.24186	0.099;0.026;0.003	B;B;B	0.25987	0.036;0.065;0.015	T	0.20672	-1.0268	10	0.15499	T	0.54	-12.4417	18.3036	0.90172	0.0:0.0:1.0:0.0	.	83;92;92	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	K	92;92;24	ENSP00000336701:E92K;ENSP00000391450:E92K;ENSP00000407282:E24K	ENSP00000336701:E92K	E	+	1	0	RAD51C	54127419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.350000	0.73017	2.660000	0.90430	0.655000	0.94253	GAG		0.418	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		74	262	0	0	0	1	0	74	262					A	56772420	G	A	56772420	3	1	79	1	0	0	0	0	1	0	0	0	13038	1291	45	2	280	2	RAD51C	17	56772420	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93150	56772420	24422790	17525	27842											
RAD51C	5889	broad.mit.edu	37	chr17	56811478	56811478	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tatatattttttatctttcaGcctcagggatttagagatac	6	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56811478G>T	ENST00000337432.4	+	9	1097		c.e9-1			NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C						blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTATCTTTCAGCCTCAGGGAT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													ENST00000337432.4																			0				upper_aerodigestive_tract(1)	1						c.e9-1	Homologous recombination	RAD51 paralog C							36	36	36					17																	56811478		2203	4299	6502	SO:0001630	splice_region_variant	5889	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56811478G>T	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"Fanconi anemia, complementation groups"	9820	protein-coding gene	gene with protein product		602774	"RAD51 (S. cerevisiae) homolog C", "RAD51 homolog C (S. cerevisiae)"			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.1027-1G>T	17.37:g.56811478G>T								NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN			9	1097	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)							O43503|Q3B783	Splice_Site	SNP	ENST00000337432.4	37		CCDS11611.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685825	0.47991	.	.	ENSG00000108384	ENST00000337432;ENST00000413590	.	.	.	4.88	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2265	0.37410	0.0982:0.0:0.9018:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD51C	54166477	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	3.795000	0.55499	1.435000	0.47434	0.563000	0.77884	.		0.338	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216	Intron	12	71	1	0	1.08611e-07	1	1.12939e-07	12	71					T	56811478	G	T	56811478	5	4	79	1	0	0	0	0	0	0	1	0	13038	985	34	3	1064	3	RAD51C	17	56811478	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39058	56811478	24383732	17526	27843											
PPM1E	22843	broad.mit.edu	37	chr17	56833506	56833506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgagtccgagcccgagcccGaacctgaactggtagaagct	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56833506G>A	ENST00000308249.2	+	1	277	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			gcccgagcccgaacctgaacT	0.706																																						ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(148-150)Gaa>Aaa		protein phosphatase, Mg2+/Mn2+ dependent, 1E							14	16	15					17																	56833506		2179	4263	6442	SO:0001583	missense	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833506G>A	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.148G>A	17.37:g.56833506G>A	ENSP00000312411:p.Glu50Lys						p.E50K	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	277	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		50			11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000308249.2	37	c.148G>A	CCDS11613.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595250	0.46318	.	.	ENSG00000175175	ENST00000308249	T	0.24350	1.86	4.15	3.08	0.35506	.	1.475580	0.05101	U	0.487086	T	0.14056	0.0340	N	0.14661	0.345	0.21020	N	0.999802	P	0.37398	0.593	B	0.25884	0.064	T	0.08310	-1.0728	10	0.32370	T	0.25	.	9.2831	0.37740	0.0:0.221:0.7789:0.0	.	50	Q8WY54-2	.	K	50	ENSP00000312411:E50K	ENSP00000312411:E50K	E	+	1	0	PPM1E	54188505	0.968000	0.33430	0.992000	0.48379	0.210000	0.24377	2.666000	0.46799	2.017000	0.59298	0.462000	0.41574	GAA		0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		14	50	0	0	0	1	0	14	50					A	56833506	G	A	56833506	3	1	79	1	0	0	0	0	1	0	0	0	12385	1059	37	1	150	1	PPM1E	17	56833506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22028	56833506	24361704	17527	27844											
TRIM37	4591	broad.mit.edu	37	chr17	57089767	57089767	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattattttccaaatcagTcatctgcagtccttccagat	5	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57089767T>G	ENST00000262294.7	-	22	2876	c.2617A>C	c.(2617-2619)Act>Cct	p.T873P	TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P|TRIM37_ENST00000376149.3_Missense_Mutation_p.T751P	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	873					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)					TCCAAATCAGTCATCTGCAGT	0.373									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2251-2253)Act>Cct		tripartite motif containing 37							87	84	85					17																	57089767		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57089767T>G	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.2617A>C	17.37:g.57089767T>G	ENSP00000262294:p.Thr873Pro					TRIM37_ENST00000262294.7_Missense_Mutation_p.T873P|TRIM37_ENST00000393065.2_Missense_Mutation_p.T839P|TRIM37_ENST00000393066.3_Missense_Mutation_p.T873P	p.T751P			O94972	TRI37_HUMAN			22	3060	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		873					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2251A>C	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416675	0.25552	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.66099	1.58;1.58;-0.19;1.19	6.07	2.57	0.30868	.	0.517276	0.21572	N	0.072381	T	0.38772	0.1053	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30361	0.277;0.0;0.0	B;B;B	0.30943	0.122;0.001;0.0	T	0.22452	-1.0216	10	0.39692	T	0.17	-6.1307	0.8622	0.01195	0.151:0.2499:0.1567:0.4424	.	839;751;873	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	P	873;873;751;839	ENSP00000376785:T873P;ENSP00000262294:T873P;ENSP00000365319:T751P;ENSP00000376784:T839P	ENSP00000262294:T873P	T	-	1	0	TRIM37	54444549	0.014000	0.17966	0.257000	0.24404	0.978000	0.69477	-0.062000	0.11674	0.151000	0.19162	0.533000	0.62120	ACT		0.373	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		69	236	0	0	0	1	0	69	236					G	57089767	T	G	57089767	3	3	79	1	0	0	0	0	1	0	0	0	16564	1667	58	4	297	4	TRIM37	17	57089767	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	256261	57089767	24105443	17528	27845											
TRIM37	4591	broad.mit.edu	37	chr17	57165749	57165749	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccaacgacaatttactagttCtcgtagctggagtggagcac	10	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57165749C>T	ENST00000262294.7	-	4	443	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K|TRIM37_ENST00000376149.3_5'UTR	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	62					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)					TTTACTAGTTCTCGTAGCTGG	0.363									Mulibrey Nanism																													ENST00000262294.7																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(184-186)Gaa>Aaa		tripartite motif containing 37							130	107	115					17																	57165749		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57165749C>T	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.184G>A	17.37:g.57165749C>T	ENSP00000262294:p.Glu62Lys					TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393065.2_Missense_Mutation_p.E28K|TRIM37_ENST00000584889.1_Missense_Mutation_p.E62K|TRIM37_ENST00000393066.3_Missense_Mutation_p.E62K	p.E62K	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN			4	443	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		62					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.184G>A	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426551	0.96131	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000393065	T;T;T	0.17213	2.29;2.29;2.29	5.2	5.2	0.72013	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.29588	0.0738	L	0.29908	0.895	0.80722	D	1	D;B	0.64830	0.994;0.128	P;B	0.62184	0.899;0.073	T	0.02226	-1.1192	10	0.54805	T	0.06	-16.9086	18.3457	0.90321	0.0:1.0:0.0:0.0	.	28;62	F8WEE6;O94972	.;TRI37_HUMAN	K	62;62;28	ENSP00000376785:E62K;ENSP00000262294:E62K;ENSP00000376784:E28K	ENSP00000262294:E62K	E	-	1	0	TRIM37	54520531	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.647000	0.83462	2.445000	0.82738	0.650000	0.86243	GAA		0.363	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		16	177	0	0	0	1	0	16	177					T	57165749	C	T	57165749	3	4	79	1	0	0	0	0	1	0	0	0	16564	922	32	2	2802	2	TRIM37	17	57165749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75982	57165749	24029461	17529	27846											
C17orf71	55181	broad.mit.edu	37	chr17	57288100	57288100	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgagtattcagagccCtggatgggctgagacagaag	14	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57288100C>A	ENST00000543872.2	+	2	952	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	SMG8_ENST00000300917.5_Missense_Mutation_p.L230M|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.L230M|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	230					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						ATTCAGAGCCCTGGATGGGCT	0.488																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(688-690)Ctg>Atg		SMG8 nonsense mediated mRNA decay factor							75	72	73					17																	57288100		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288100C>A	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.688C>A	17.37:g.57288100C>A	ENSP00000438748:p.Leu230Met					SMG8_ENST00000578922.1_Missense_Mutation_p.L230M|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.L230M	p.L230M			Q8ND04	SMG8_HUMAN			2	952	+			230					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.688C>A	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153688	0.38021	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.54279	0.58;0.58	5.99	0.667	0.17907	.	0.063140	0.64402	D	0.000004	T	0.41696	0.1170	L	0.54323	1.7	0.43698	D	0.996156	P	0.48230	0.907	B	0.39503	0.301	T	0.21586	-1.0241	10	0.38643	T	0.18	-8.4489	9.2582	0.37597	0.0:0.5902:0.0:0.4098	.	230	Q8ND04	SMG8_HUMAN	M	230	ENSP00000300917:L230M;ENSP00000438748:L230M	ENSP00000300917:L230M	L	+	1	2	SMG8	54642882	0.976000	0.34144	0.980000	0.43619	0.942000	0.58702	1.335000	0.33839	-0.052000	0.13311	-0.150000	0.13652	CTG		0.488	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		20	302	1	0	1.50039e-11	1	1.60151e-11	20	302					A	57288100	C	A	57288100	3	1	79	1	0	0	0	0	1	0	0	0	1884	680	24	3	690	3	C17orf71	17	57288100	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122351	57288100	23907110	17530	27847											
YPEL2	388403	broad.mit.edu	37	chr17	57466830	57466830	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactctgggctggaaatacGtaagtataaaggagtttggt	12	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57466830G>A	ENST00000312655.4	+	4	588		c.e4+1		YPEL2_ENST00000581865.1_Splice_Site|YPEL2_ENST00000585166.1_Splice_Site	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTGGAAATACGTAAGTATAAA	0.498																																					Melanoma(86;1113 1364 8518 42220 42625)	ENST00000312655.4																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.e4+1		yippee-like 2 (Drosophila)							60	53	55					17																	57466830		2203	4300	6503	SO:0001630	splice_region_variant	388403					nucleolus		g.chr17:57466830G>A	AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.270+1G>A	17.37:g.57466830G>A						YPEL2_ENST00000585166.1_Splice_Site|YPEL2_ENST00000581865.1_Splice_Site		NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN			4	588	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)							A0PK16|A2RUG4|Q65ZA0|Q8N3W2	Splice_Site	SNP	ENST00000312655.4	37		CCDS32695.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615140	0.87359	.	.	ENSG00000175155	ENST00000312655	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	YPEL2	54821612	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.869000	0.99810	2.869000	0.98440	0.558000	0.71614	.		0.498	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446032.1	XM_371070	Intron	6	143	0	0	0	1	0	6	143					A	57466830	G	A	57466830	5	1	79	1	0	0	0	0	0	0	1	0	17544	1159	40	1	281	1	YPEL2	17	57466830	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178730	57466830	23728380	17531	27848											
DHX40	79665	broad.mit.edu	37	chr17	57651186	57651186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtggtggtaatgtcagCaactatggaattagccaagc	11	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57651186C>T	ENST00000251241.4	+	5	779	c.632C>T	c.(631-633)gCa>gTa	p.A211V	DHX40_ENST00000451169.2_Missense_Mutation_p.A112V|DHX40_ENST00000425628.3_Missense_Mutation_p.A134V	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	211	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)					GTAATGTCAGCAACTATGGAA	0.358																																						ENST00000451169.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(334-336)gCa>gTa		DEAH (Asp-Glu-Ala-His) box polypeptide 40							55	56	56					17																	57651186		2203	4300	6503	SO:0001583	missense	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57651186C>T	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.632C>T	17.37:g.57651186C>T	ENSP00000251241:p.Ala211Val					DHX40_ENST00000251241.4_Missense_Mutation_p.A211V|DHX40_ENST00000425628.3_Missense_Mutation_p.A134V	p.A112V			Q8IX18	DHX40_HUMAN			5	694	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		211			Helicase ATP-binding.		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	ENST00000251241.4	37	c.335C>T	CCDS11617.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416047	0.96092	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.59772	0.24;0.24	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.956	D	0.90169	0.4234	10	0.87932	D	0	.	19.8835	0.96906	0.0:1.0:0.0:0.0	.	134;211	F5H625;Q8IX18	.;DHX40_HUMAN	V	211;134;211;112	ENSP00000251241:A211V;ENSP00000396039:A112V	ENSP00000251241:A211V	A	+	2	0	DHX40	55005968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.777000	0.95525	0.655000	0.94253	GCA		0.358	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		45	216	0	0	0	1	0	45	216					T	57651186	C	T	57651186	3	4	79	1	0	0	0	0	1	0	0	0	4528	710	25	2	650	2	DHX40	17	57651186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184356	57651186	23544024	17532	27849											
CLTC	1213	broad.mit.edu	37	chr17	57741290	57741290	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaagggctaacgtcccaAataaagtcattcagtgcttt	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57741290A>G	ENST00000269122.3	+	9	1730	c.1456A>G	c.(1456-1458)Aat>Gat	p.N486D	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.N486D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	486	Flexible linker.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAACGTCCCAAATAAAGTCAT	0.398			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(1456-1458)Aat>Gat		clathrin, heavy chain (Hc)							138	131	133					17																	57741290		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57741290A>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1456A>G	17.37:g.57741290A>G	ENSP00000269122:p.Asn486Asp					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.N486D	p.N486D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			9	1730	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		486			Flexible linker.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1456A>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.025966	0.54683	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21191	2.02;2.02	5.38	5.38	0.77491	Armadillo-type fold (2);	0.043136	0.85682	D	0.000000	T	0.18383	0.0441	L	0.41027	1.25	0.80722	D	1	B;B	0.20550	0.046;0.0	B;B	0.20384	0.029;0.006	T	0.05616	-1.0874	10	0.11794	T	0.64	.	15.6795	0.77357	1.0:0.0:0.0:0.0	.	486;486	Q00610;Q00610-2	CLH1_HUMAN;.	D	486	ENSP00000269122:N486D;ENSP00000376763:N486D	ENSP00000269122:N486D	N	+	1	0	CLTC	55096072	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.460000	0.39030	AAT		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		85	351	0	0	0	1	0	85	351					G	57741290	A	G	57741290	3	3	79	1	0	0	0	0	1	0	0	0	3575	14	1	4	1490	4	CLTC	17	57741290	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	90104	57741290	23453920	17533	27850											
CLTC	1213	broad.mit.edu	37	chr17	57758684	57758684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacctccttatcctcactGcaattaaggctgaccgtaca	5	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57758684G>A	ENST00000269122.3	+	20	3368	c.3094G>A	c.(3094-3096)Gca>Aca	p.A1032T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1032	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCCTCACTGCAATTAAGGC	0.358			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(3094-3096)Gca>Aca		clathrin, heavy chain (Hc)							87	84	85					17																	57758684		2203	4299	6502	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57758684G>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3094G>A	17.37:g.57758684G>A	ENSP00000269122:p.Ala1032Thr					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A1032T	p.A1032T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			20	3368	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1032			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.3094G>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310739	0.95629	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.21932	1.98;1.98	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57110	0.2031	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.999;0.992	T	0.65776	-0.6086	10	0.87932	D	0	.	19.5641	0.95386	0.0:0.0:1.0:0.0	.	1032;1032	Q00610;Q00610-2	CLH1_HUMAN;.	T	1032	ENSP00000269122:A1032T;ENSP00000376763:A1032T	ENSP00000269122:A1032T	A	+	1	0	CLTC	55113466	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.813000	0.99286	2.680000	0.91292	0.557000	0.71058	GCA		0.358	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		77	292	0	0	0	1	0	77	292					A	57758684	G	A	57758684	3	1	79	1	0	0	0	0	1	0	0	0	3575	1319	46	2	3172	2	CLTC	17	57758684	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17394	57758684	23436526	17534	27851											
TMEM49	81671	broad.mit.edu	37	chr17	57917196	57917196	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggtgtgttacttcatcctatCtatcattaactccatggcac	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57917196C>T	ENST00000262291.4	+	12	1455	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	VMP1_ENST00000545362.1_Missense_Mutation_p.S326F|VMP1_ENST00000537567.1_Missense_Mutation_p.S248F|VMP1_ENST00000539763.1_Missense_Mutation_p.S190F|VMP1_ENST00000536180.1_Missense_Mutation_p.S285F|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000588617.1_3'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	382					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTCATCCTATCTATCATTAAC	0.383																																						ENST00000262291.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						c.(1144-1146)tCt>tTt		vacuole membrane protein 1							257	242	247					17																	57917196		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57917196C>T		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1145C>T	17.37:g.57917196C>T	ENSP00000262291:p.Ser382Phe					VMP1_ENST00000539763.1_Missense_Mutation_p.S190F|VMP1_ENST00000545362.1_Missense_Mutation_p.S326F|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000537567.1_Missense_Mutation_p.S248F|VMP1_ENST00000536180.1_Missense_Mutation_p.S285F	p.S382F	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN			12	1455	+			382					B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.1145C>T	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900435	0.72754	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.28	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.91354	3.2	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;0.991;0.994;0.998	D	0.88093	0.2814	9	0.87932	D	0	-9.2677	13.9998	0.64427	0.0:0.9263:0.0:0.0737	.	248;285;326;382	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	F	382;248;190;285;326	.	ENSP00000262291:S382F	S	+	2	0	VMP1	55271978	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.625000	0.83145	1.230000	0.43646	0.555000	0.69702	TCT		0.383	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		183	740	0	0	0	1	0	183	740					T	57917196	C	T	57917196	3	4	79	1	0	0	0	0	1	0	0	0	16225	913	32	2	1187	2	TMEM49	17	57917196	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158512	57917196	23278014	17535	27852											
TUBD1	51174	broad.mit.edu	37	chr17	57963577	57963577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgtcaacaagaacagCccgggcaattggaactagag	10	10	1	2	rs368636067		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57963577C>T	ENST00000592426.1	-	2	187	c.187G>A	c.(187-189)Gct>Act	p.A63T	TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000325752.3_Missense_Mutation_p.A63T|TUBD1_ENST00000591611.1_5'UTR			Q9UJT1	TBD_HUMAN	tubulin, delta 1	63					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	ACAAGAACAGCCCGGGCAATT	0.413																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(187-189)Gct>Act		tubulin, delta 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,,	0,4406		0,0,2203	71	68	69		187,187,187,187,,	6.1	1	17		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,utr-5,intron	TUBD1	NM_001193609.1,NM_001193610.1,NM_001193611.1,NM_016261.3,NM_001193612.1,NM_001193613.1	58,58,58,58,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	63/399,63/397,63/352,63/454,,	57963577	1,13005	2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57963577C>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"Tubulins"	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.187G>A	17.37:g.57963577C>T	ENSP00000468518:p.Ala63Thr					TUBD1_ENST00000592426.1_Missense_Mutation_p.A63T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000340993.6_Missense_Mutation_p.A63T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A63T|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.A63T	p.A63T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		3	464	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		63					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.187G>A	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970893	0.92919	0.0	1.16E-4	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000394239;ENST00000376094	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	6.08	6.08	0.98989	Tubulin/FtsZ, GTPase domain (4);	0.047647	0.85682	D	0.000000	D	0.86818	0.6024	M	0.84585	2.705	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.984;0.987;0.99	D;P;P;D	0.73380	0.98;0.85;0.901;0.94	D	0.87265	0.2282	10	0.87932	D	0	-20.964	20.6634	0.99662	0.0:1.0:0.0:0.0	.	63;63;63;63	E9PCA7;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;TBD_HUMAN	T	63	ENSP00000320797:A63T;ENSP00000342399:A63T;ENSP00000377785:A63T;ENSP00000365262:A63T	ENSP00000320797:A63T	A	-	1	0	TUBD1	55318359	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.416000	0.59815	2.894000	0.99253	0.655000	0.94253	GCT		0.413	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		25	253	0	0	0	1	0	25	253					T	57963577	C	T	57963577	3	4	79	1	0	0	0	0	1	0	0	0	16816	739	26	2	1202	2	TUBD1	17	57963577	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46381	57963577	23231633	17536	27853											
RNFT1	51136	broad.mit.edu	37	chr17	58033915	58033915	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaaaaattccaaaagCtgaaaagagaaataagagat	7	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58033915C>A	ENST00000305783.8	-	7	1061		c.e7-1		RNFT1_ENST00000442346.2_Splice_Site|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1							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)			ATTCCAAAAGCTGAAAAGAGA	0.303																																						ENST00000305783.8																			0				large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.e7-1		ring finger protein, transmembrane 1							49	46	47					17																	58033915		1796	4051	5847	SO:0001630	splice_region_variant	51136					integral to membrane	zinc ion binding	g.chr17:58033915C>A	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.1006-1G>T	17.37:g.58033915C>A						RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Splice_Site		NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		7	1061	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)							Q8N7D0|Q96IZ9|Q9Y686	Splice_Site	SNP	ENST00000305783.8	37		CCDS11622.2	.	.	.	.	.	.	.	.	.	.	c	14.27	2.486454	0.44249	.	.	ENSG00000189050	ENST00000305783	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0542	0.89358	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNFT1	55388697	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	5.784000	0.68990	2.486000	0.83907	0.557000	0.71058	.		0.303	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125	Intron	21	121	1	0	1.64113e-05	1	1.68037e-05	21	121					A	58033915	C	A	58033915	5	1	79	1	0	0	0	0	0	0	1	0	13551	811	28	3	314	3	RNFT1	17	58033915	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70338	58033915	23161295	17537	27854											
USP32	84669	broad.mit.edu	37	chr17	58259106	58259106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttttcttgatgaagaaggaGaacctgtgaacaggacagaa	11	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58259106G>T	ENST00000300896.4	-	32	4321	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1376	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)			TGAAGAAGGAGAACCTGTGAA	0.483																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4126-4128)tCt>tAt		ubiquitin specific peptidase 32							15	17	17					17																	58259106		2121	4240	6361	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58259106G>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4127C>A	17.37:g.58259106G>T	ENSP00000300896:p.Ser1376Tyr					USP32_ENST00000592339.1_Missense_Mutation_p.S1046Y	p.S1376Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		32	4321	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1376					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4127C>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331647	0.60853	.	.	ENSG00000170832	ENST00000300896	T	0.54675	0.56	5.73	5.73	0.89815	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053759	0.85682	D	0.000000	T	0.61825	0.2378	L	0.29908	0.895	0.80722	D	1	D	0.59767	0.986	P	0.62184	0.899	T	0.63278	-0.6673	10	0.72032	D	0.01	.	19.2507	0.93923	0.0:0.0:1.0:0.0	.	1376	Q8NFA0	UBP32_HUMAN	Y	1376	ENSP00000300896:S1376Y	ENSP00000300896:S1376Y	S	-	2	0	USP32	55613888	1.000000	0.71417	0.993000	0.49108	0.220000	0.24768	8.998000	0.93550	2.868000	0.98415	0.555000	0.69702	TCT		0.483	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		33	153	1	0	7.53189e-24	1	8.58305e-24	33	153					T	58259106	G	T	58259106	3	4	79	1	0	0	0	0	1	0	0	0	17117	942	33	3	699	3	USP32	17	58259106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	225191	58259106	22936104	17538	27855											
USP32	84669	broad.mit.edu	37	chr17	58260584	58260584	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttttgctcaggagcacGtcctcttccccagccgaact	10	15	2	0	rs144453913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58260584G>A	ENST00000300896.4	-	31	4259	c.4065C>T	c.(4063-4065)gaC>gaT	p.D1355D	USP32_ENST00000592339.1_Silent_p.D1025D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1355	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)			TCAGGAGCACGTCCTCTTCCC	0.577																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(4063-4065)gaC>gaT		ubiquitin specific peptidase 32		G		0,4406		0,0,2203	75	68	71		4065	-2.1	0.1	17	dbSNP_134	71	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	USP32	NM_032582.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1355/1605	58260584	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58260584G>A	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.4065C>T	17.37:g.58260584G>A						USP32_ENST00000592339.1_Silent_p.D1025D	p.D1355D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		31	4259	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1355					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.4065C>T	CCDS32697.1																																																																																				0.577	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		75	330	0	0	0	1	0	75	330					A	58260584	G	A	58260584	2	1	79	1	0	0	0	0	0	0	0	1	17117	1136	40	1		1	USP32	17	58260584	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1478	58260584	22934626	17539	27856											
USP32	84669	broad.mit.edu	37	chr17	58262867	58262867	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttctttgttgctaagCagtgggtcttacacttggaa	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58262867C>T	ENST00000300896.4	-	30	3982	c.3788G>A	c.(3787-3789)tGc>tAc	p.C1263Y	USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1263	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)			TGTTGCTAAGCAGTGGGTCTT	0.502																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(3787-3789)tGc>tAc		ubiquitin specific peptidase 32							111	105	107					17																	58262867		2203	4297	6500	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58262867C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.3788G>A	17.37:g.58262867C>T	ENSP00000300896:p.Cys1263Tyr					USP32_ENST00000592339.1_Missense_Mutation_p.C933Y	p.C1263Y	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		30	3982	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1263					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.3788G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770304	0.90108	.	.	ENSG00000170832	ENST00000300896	T	0.28666	1.6	5.6	5.6	0.85130	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.043342	0.85682	D	0.000000	T	0.38268	0.1034	L	0.43152	1.355	0.80722	D	1	D	0.56287	0.975	P	0.48334	0.574	T	0.12941	-1.0528	10	0.59425	D	0.04	.	19.6082	0.95588	0.0:1.0:0.0:0.0	.	1263	Q8NFA0	UBP32_HUMAN	Y	1263	ENSP00000300896:C1263Y	ENSP00000300896:C1263Y	C	-	2	0	USP32	55617649	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.786000	0.85741	2.637000	0.89404	0.650000	0.86243	TGC		0.502	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		89	445	0	0	0	1	0	89	445					T	58262867	C	T	58262867	3	4	79	1	0	0	0	0	1	0	0	0	17117	710	25	2	1046	2	USP32	17	58262867	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2283	58262867	22932343	17540	27857											
USP32	84669	broad.mit.edu	37	chr17	58286188	58286188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttagatggttgtcccagGcctagcaataaaaaagatga	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	ENST00000300896.4	-	23	2794	c.2600C>T	c.(2599-2601)gCc>gTc	p.A867V	USP32_ENST00000592339.1_Splice_Site_p.A537V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	867	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)			GTTGTCCCAGGCCTAGCAATA	0.323																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.e23-1		ubiquitin specific peptidase 32							64	65	64					17																	58286188		2203	4299	6502	SO:0001630	splice_region_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58286188G>A	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.2599-1C>T	17.37:g.58286188G>A						USP32_ENST00000592339.1_Splice_Site_p.A537_splice	p.A867_splice	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		23	2794	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		867					Q7Z5T3|Q9BX85|Q9Y591	Splice_Site	SNP	ENST00000300896.4	37	c.2598_splice	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323071	0.95708	.	.	ENSG00000170832	ENST00000300896	T	0.31247	1.5	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.52917	0.1764	L	0.49778	1.585	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.47586	-0.9106	10	0.56958	D	0.05	.	20.0027	0.97425	0.0:0.0:1.0:0.0	.	867	Q8NFA0	UBP32_HUMAN	V	867	ENSP00000300896:A867V	ENSP00000300896:A867V	A	-	2	0	USP32	55640970	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.807000	0.99171	2.733000	0.93635	0.655000	0.94253	GCC		0.323	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582	Missense_Mutation	44	261	0	0	0	1	0	44	261					A	58286188	G	A	58286188	5	1	79	1	0	0	0	0	0	0	1	0	17117	1217	42	2	2262	2	USP32	17	58286188	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23321	58286188	22909022	17541	27858											
USP32	84669	broad.mit.edu	37	chr17	58422960	58422960	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtcgttttagctctAcatctgtaactgcaattcag	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58422960A>G	ENST00000300896.4	-	2	262	c.68T>C	c.(67-69)gTa>gCa	p.V23A	USP32_ENST00000393003.3_Missense_Mutation_p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	23					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)			TTTTAGCTCTACATCTGTAAC	0.433																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(67-69)gTa>gCa		ubiquitin specific peptidase 32							105	95	99					17																	58422960		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58422960A>G	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.68T>C	17.37:g.58422960A>G	ENSP00000300896:p.Val23Ala					USP32_ENST00000393003.3_Missense_Mutation_p.V23A	p.V23A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		2	262	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		23					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.68T>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	A	7.100	0.573970	0.13623	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.39997	1.05;1.05	4.93	4.93	0.64822	EF-hand-like domain (1);	0.347798	0.28847	N	0.013949	T	0.30947	0.0781	L	0.38531	1.155	0.40988	D	0.984836	B;B	0.23316	0.083;0.002	B;B	0.19946	0.027;0.002	T	0.10823	-1.0613	10	0.07482	T	0.82	.	14.3196	0.66476	1.0:0.0:0.0:0.0	.	23;23	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	A	23	ENSP00000300896:V23A;ENSP00000376727:V23A	ENSP00000300896:V23A	V	-	2	0	USP32	55777742	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.133000	0.77259	1.867000	0.54127	0.444000	0.29173	GTA		0.433	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		57	281	0	0	0	1	0	57	281					G	58422960	A	G	58422960	3	3	79	1	0	0	0	0	1	0	0	0	17117	391	14	4	4878	4	USP32	17	58422960	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	136772	58422960	22772250	17542	27859											
C17orf64	124773	broad.mit.edu	37	chr17	58506770	58506770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaggtccttgctggccgaCcgggaagacagtctgcccaa	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58506770C>T	ENST00000269127.4	+	5	561	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	159										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGCTGGCCGACCGGGAAGACA	0.612																																						ENST00000269127.4																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(475-477)gaC>gaT		chromosome 17 open reading frame 64							42	43	43					17																	58506770		2203	4300	6503	SO:0001819	synonymous_variant	124773							g.chr17:58506770C>T	BC048806	CCDS32698.2	17q23.2	2005-12-16			ENSG00000141371	ENSG00000141371			26990	protein-coding gene	gene with protein product						12477932	Standard	NM_181707		Approved		uc002iyq.3	Q86WR6	OTTHUMG00000157171	ENST00000269127.4:c.477C>T	17.37:g.58506770C>T							p.D159D	NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)		5	561	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		159					Q8IY87	Silent	SNP	ENST00000269127.4	37	c.477C>T	CCDS32698.2																																																																																				0.612	C17orf64-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000347743.1	NM_181707		52	186	0	0	0	1	0	52	186					T	58506770	C	T	58506770	2	4	79	1	0	0	0	0	0	0	0	1	1878	506	18	2		2	C17orf64	17	58506770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83810	58506770	22688440	17543	27860											
BCAS3	54828	broad.mit.edu	37	chr17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaaatttcacccagcaaatCgatgggcggagaattttgtg	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59112065C>T	ENST00000390652.5	+	18	1752	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000589222.1_Missense_Mutation_p.S559L	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)			CCCAGCAAATCGATGGGCGGA	0.348																																						ENST00000589222.1																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1675-1677)tCg>tTg		breast carcinoma amplified sequence 3							87	81	83					17																	59112065		1805	4080	5885	SO:0001583	missense	54828					nucleus		g.chr17:59112065C>T	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.1721C>T	17.37:g.59112065C>T	ENSP00000375067:p.Ser574Leu					BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L	p.S559L			Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		17	1744	+			574						Missense_Mutation	SNP	ENST00000390652.5	37	c.1676C>T	CCDS45749.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457450	0.96240	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207	T;T;T	0.34275	1.43;1.39;1.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.48642	1.525	0.58432	D	0.999998	D;D;D;D;D;D	0.69078	0.997;0.988;0.995;0.997;0.997;0.997	D;P;P;D;D;D	0.72982	0.979;0.569;0.731;0.964;0.979;0.964	T	0.49661	-0.8916	10	0.51188	T	0.08	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	350;559;574;559;574;559	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;BCAS3_HUMAN;.	L	574;559;589;559;351	ENSP00000375067:S574L;ENSP00000385323:S559L;ENSP00000386173:S559L	ENSP00000353336:S351L	S	+	2	0	BCAS3	56466847	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	TCG		0.348	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		84	295	0	0	0	1	0	84	295					T	59112065	C	T	59112065	3	4	79	1	0	0	0	0	1	0	0	0	1353	893	31	1	1787	1	BCAS3	17	59112065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	605295	59112065	22083145	17544	27861											
TBX2	6909	broad.mit.edu	37	chr17	59482854	59482854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaggagcagggcctggCgccgctggtggtgcagacag	20	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59482854C>T	ENST00000240328.3	+	6	1624	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	448					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						CAGGGCCTGGCGCCGCTGGTG	0.711																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1342-1344)gCg>gTg		T-box 2							7	9	8					17																	59482854		2143	4217	6360	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59482854C>T	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.1343C>T	17.37:g.59482854C>T	ENSP00000240328:p.Ala448Val					RP11-332H18.4_ENST00000592009.1_RNA	p.A448V	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			6	1624	+			448					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1343C>T	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920502	0.73213	.	.	ENSG00000121068	ENST00000240328	D	0.86865	-2.18	4.34	4.34	0.51931	.	0.175525	0.48767	D	0.000165	T	0.80341	0.4605	L	0.38838	1.175	0.50039	D	0.999841	B	0.30709	0.291	B	0.13407	0.009	T	0.79857	-0.1626	10	0.44086	T	0.13	.	15.5774	0.76404	0.0:1.0:0.0:0.0	.	448	Q13207	TBX2_HUMAN	V	448	ENSP00000240328:A448V	ENSP00000240328:A448V	A	+	2	0	TBX2	56837636	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.513000	0.53414	2.240000	0.73641	0.561000	0.74099	GCG		0.711	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		4	40	0	0	0	1	0	4	40					T	59482854	C	T	59482854	3	4	79	1	0	0	0	0	1	0	0	0	15707	768	27	1	1365	1	TBX2	17	59482854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	370789	59482854	21712356	17545	27862											
TBX4	9496	broad.mit.edu	37	chr17	59560702	59560702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccgagagcgggggcccaGcgcctcattcccaagagagc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59560702G>A	ENST00000240335.1	+	8	1508	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.S489N	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	488					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGGGGGCCCAGCGCCTCATTC	0.597																																						ENST00000393853.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1465-1467)aGc>aAc		T-box 4							56	58	58					17																	59560702		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560702G>A	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.1463G>A	17.37:g.59560702G>A	ENSP00000240335:p.Ser488Asn					TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.S488N	p.S489N			P57082	TBX4_HUMAN			9	1629	+			488					A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.1466G>A	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	6.717	0.501072	0.12822	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.42131	0.98;0.98	5.34	0.827	0.18835	.	1.492660	0.03395	N	0.202441	T	0.39064	0.1064	L	0.34521	1.04	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.12837	0.008;0.002	T	0.42310	-0.9459	9	.	.	.	.	17.2199	0.86954	0.0:0.4701:0.5299:0.0	.	489;488	A5PKU7;P57082	.;TBX4_HUMAN	N	489;488	ENSP00000377435:S489N;ENSP00000240335:S488N	.	S	+	2	0	TBX4	56915484	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	0.481000	0.22260	-0.046000	0.13446	-0.165000	0.13383	AGC		0.597	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		69	300	0	0	0	1	0	69	300					A	59560702	G	A	59560702	3	1	79	1	0	0	0	0	1	0	0	0	15712	971	34	2	1493	2	TBX4	17	59560702	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77848	59560702	21634508	17546	27863											
NACA2	342538	broad.mit.edu	37	chr17	59668386	59668386	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcagctgctgccaccagCcaggctttttgtgtggtggt	12	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59668386C>T	ENST00000521764.1	-	1	177	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	52					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTGCCACCAGCCAGGCTTTTT	0.512																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(154-156)tgG>tgA		nascent polypeptide-associated complex alpha subunit 2							119	110	113					17																	59668386		2203	4300	6503	SO:0001587	stop_gained	342538				protein transport	cytoplasm|nucleus		g.chr17:59668386C>T	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.156G>A	17.37:g.59668386C>T	ENSP00000427802:p.Trp52*						p.W52*	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	177	-	all_epithelial(1;3.12e-14)		52					Q2VIR9	Nonsense_Mutation	SNP	ENST00000521764.1	37	c.156G>A	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043673	0.36085	.	.	ENSG00000253506	ENST00000521764	.	.	.	0.753	0.753	0.18404	.	0.213702	0.30093	U	0.010435	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3227	0.26536	0.0:1.0:0.0:0.0	.	.	.	.	X	52	.	.	W	-	3	0	NACA2	57023168	1.000000	0.71417	0.296000	0.24974	0.035000	0.12851	4.906000	0.63293	0.702000	0.31825	0.411000	0.27672	TGG		0.512	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		150	638	0	0	0	1	0	150	638					T	59668386	C	T	59668386	4	4	79	1	0	0	0	0	0	1	0	0	10175	740	26	2	495	2	NACA2	17	59668386	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107684	59668386	21526824	17547	27864											
BRIP1	83990	broad.mit.edu	37	chr17	59760907	59760907	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatttcaaaaaggtctttaGctaaaatgcaatctgaattg	6	5	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59760907G>A	ENST00000259008.2	-	20	3767	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1167					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						AAGGTCTTTAGCTAAAATGCA	0.338			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	"F, N, Mis"	BRCA1 interacting protein C-terminal helicase 1			"L, E"		"AML, leukemia, breast"			0				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						c.(3499-3501)gCt>gTt	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							73	72	73					17																	59760907		2203	4298	6501	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59760907G>A	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.3500C>T	17.37:g.59760907G>A	ENSP00000259008:p.Ala1167Val						p.A1167V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			20	3767	-			1167					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3500C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	9.160	1.018504	0.19355	.	.	ENSG00000136492	ENST00000259008	T	0.78481	-1.18	5.69	4.72	0.59763	.	0.908560	0.09403	N	0.806853	T	0.64438	0.2598	N	0.17082	0.46	0.80722	D	1	B	0.18610	0.029	B	0.17722	0.019	T	0.50233	-0.8852	9	.	.	.	-2.3141	11.8611	0.52467	0.0815:0.0:0.9185:0.0	.	1167	Q9BX63	FANCJ_HUMAN	V	1167	ENSP00000259008:A1167V	.	A	-	2	0	BRIP1	57115689	0.051000	0.20477	0.861000	0.33841	0.098000	0.18820	0.409000	0.21082	1.400000	0.46741	0.563000	0.77884	GCT		0.338	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		43	191	0	0	0	1	0	43	191					A	59760907	G	A	59760907	3	1	79	1	0	0	0	0	1	0	0	0	1518	971	34	2	253	2	BRIP1	17	59760907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92521	59760907	21434303	17548	27865											
INTS2	57508	broad.mit.edu	37	chr17	59947320	59947320	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcttcagtaggtaggcaaatCtctaagagaatctggacagc	10	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59947320C>T	ENST00000444766.3	-	21	2907	c.2832G>A	c.(2830-2832)gaG>gaA	p.E944E	INTS2_ENST00000251334.6_Silent_p.E936E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	944					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						GTAGGCAAATCTCTAAGAGAA	0.343																																						ENST00000444766.3																			0				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						c.(2830-2832)gaG>gaA		integrator complex subunit 2							53	52	52					17																	59947320		1832	4092	5924	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59947320C>T	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.2832G>A	17.37:g.59947320C>T						INTS2_ENST00000251334.6_Silent_p.E936E	p.E944E	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			21	2907	-			944					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.2832G>A	CCDS45750.1																																																																																				0.343	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		8	248	0	0	0	1	0	8	248					T	59947320	C	T	59947320	2	4	79	1	0	0	0	0	0	0	0	1	7808	912	32	2		2	INTS2	17	59947320	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186413	59947320	21247890	17549	27866											
MED13	9969	broad.mit.edu	37	chr17	60028352	60028352	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgatagtagccgatcagtaCtctgacccttaaaaagacaa	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60028352C>T	ENST00000397786.2	-	28	6201	c.6125G>A	c.(6124-6126)aGt>aAt	p.S2042N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2042					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						CCGATCAGTACTCTGACCCTT	0.378																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(6124-6126)aGt>aAt		mediator complex subunit 13							95	85	88					17																	60028352		1881	4129	6010	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60028352C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.6125G>A	17.37:g.60028352C>T	ENSP00000380888:p.Ser2042Asn						p.S2042N	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			28	6201	-			2042					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.6125G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	8.125	0.781751	0.16120	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82081	-1.57	6.04	6.04	0.98038	.	0.086896	0.85682	D	0.000000	T	0.78413	0.4279	L	0.43152	1.355	0.40256	D	0.978125	B	0.02656	0.0	B	0.08055	0.003	T	0.72567	-0.4254	10	0.10111	T	0.7	-14.3882	20.5792	0.99380	0.0:1.0:0.0:0.0	.	2042	Q9UHV7	MED13_HUMAN	N	2042;2041	ENSP00000380888:S2042N	ENSP00000262436:S2041N	S	-	2	0	MED13	57383134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.735000	0.68587	2.873000	0.98535	0.561000	0.74099	AGT		0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		54	267	0	0	0	1	0	54	267					T	60028352	C	T	60028352	3	4	79	1	0	0	0	0	1	0	0	0	9471	565	20	2	411	2	MED13	17	60028352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81032	60028352	21166858	17550	27867											
MED13	9969	broad.mit.edu	37	chr17	60042453	60042453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtagagctgatgtctgttgCcctcctagctgaccactctg	10	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60042453C>T	ENST00000397786.2	-	20	4834	c.4758G>A	c.(4756-4758)ggG>ggA	p.G1586G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1586					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						ATGTCTGTTGCCCTCCTAGCT	0.453																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4756-4758)ggG>ggA		mediator complex subunit 13							95	94	94					17																	60042453		2001	4181	6182	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60042453C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4758G>A	17.37:g.60042453C>T							p.G1586G	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			20	4834	-			1586					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.4758G>A	CCDS42366.1																																																																																				0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		51	210	0	0	0	1	0	51	210					T	60042453	C	T	60042453	2	4	79	1	0	0	0	0	0	0	0	1	9471	726	26	2		2	MED13	17	60042453	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14101	60042453	21152757	17551	27868											
MED13	9969	broad.mit.edu	37	chr17	60062374	60062374	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttacttatgcaagataaCgggtccagatttcctgtctt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60062374C>T	ENST00000397786.2	-	13	2539	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	821					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						TGCAAGATAACGGGTCCAGAT	0.378																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2461-2463)ccG>ccA		mediator complex subunit 13							208	194	198					17																	60062374		1843	4090	5933	SO:0001819	synonymous_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60062374C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2463G>A	17.37:g.60062374C>T							p.P821P	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			13	2539	-			821					B2RU05|O60334	Silent	SNP	ENST00000397786.2	37	c.2463G>A	CCDS42366.1																																																																																				0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		115	600	0	0	0	1	0	115	600					T	60062374	C	T	60062374	2	4	79	1	0	0	0	0	0	0	0	1	9471	523	19	1		1	MED13	17	60062374	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19921	60062374	21132836	17552	27869											
EFCAB3	146779	broad.mit.edu	37	chr17	60484019	60484019	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaaaggatttatttaaatttCttgaagagctcaagagtaag	8	3	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60484019C>A	ENST00000305286.3	+	7	745	c.667C>A	c.(667-669)Ctt>Att	p.L223I	EFCAB3_ENST00000450662.2_Missense_Mutation_p.L275I	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	223							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)			ATTTAAATTTCTTGAAGAGCT	0.393																																						ENST00000450662.2																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17						c.(823-825)Ctt>Att		EF-hand calcium binding domain 3							45	46	46					17																	60484019		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60484019C>A	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.667C>A	17.37:g.60484019C>A	ENSP00000302649:p.Leu223Ile					EFCAB3_ENST00000305286.3_Missense_Mutation_p.L223I	p.L275I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		9	894	+			223					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.823C>A	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483978	0.63962	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.67865	-0.29;-0.23	5.35	5.35	0.76521	.	0.000000	0.51477	D	0.000085	T	0.80839	0.4700	M	0.75777	2.31	0.35585	D	0.806632	D	0.76494	0.999	D	0.76071	0.987	D	0.86008	0.1499	10	0.87932	D	0	.	14.4283	0.67230	0.0:1.0:0.0:0.0	.	223	Q8N7B9	EFCB3_HUMAN	I	275;223	ENSP00000403932:L275I;ENSP00000302649:L223I	ENSP00000302649:L223I	L	+	1	0	EFCAB3	57837751	0.998000	0.40836	1.000000	0.80357	0.629000	0.37895	1.748000	0.38308	2.785000	0.95823	0.591000	0.81541	CTT		0.393	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		46	222	1	0	6.08268e-21	1	6.83416e-21	46	222					A	60484019	C	A	60484019	3	1	79	1	0	0	0	0	1	0	0	0	4951	913	32	3	857	3	EFCAB3	17	60484019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	421645	60484019	20711191	17553	27870											
METTL2A	339175	broad.mit.edu	37	chr17	60503706	60503706	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggaatgacttctacaaAatccacgaaaatgggttttt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60503706A>C	ENST00000311506.5	+	3	285	c.249A>C	c.(247-249)aaA>aaC	p.K83N		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	83					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACTTCTACAAAATCCACGAAA	0.338																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(247-249)aaA>aaC		methyltransferase like 2A							22	18	19					17																	60503706		692	1578	2270	SO:0001583	missense	339175						methyltransferase activity	g.chr17:60503706A>C	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.249A>C	17.37:g.60503706A>C	ENSP00000309610:p.Lys83Asn						p.K83N	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		3	285	+			83					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	c.249A>C	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698488	0.30142	.	.	ENSG00000087995	ENST00000311506;ENST00000333483	T	0.03951	3.75	5.14	4.06	0.47325	.	0.134389	0.64402	D	0.000003	T	0.09024	0.0223	M	0.84433	2.695	0.31216	N	0.69804	B	0.14805	0.011	B	0.17722	0.019	T	0.03354	-1.1045	10	0.52906	T	0.07	-3.801	6.1331	0.20217	0.7528:0.1626:0.0846:0.0	.	83	Q96IZ6	MTL2A_HUMAN	N	83	ENSP00000309610:K83N	ENSP00000309610:K83N	K	+	3	2	METTL2A	57857438	1.000000	0.71417	0.996000	0.52242	0.814000	0.46013	1.612000	0.36889	0.909000	0.36697	0.454000	0.30748	AAA		0.338	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		49	199	0	0	0	1	0	49	199					C	60503706	A	C	60503706	3	2	79	1	0	0	0	0	1	0	0	0	9540	11	1	4	259	4	METTL2A	17	60503706	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19687	60503706	20691504	17554	27871											
METTL2A	339175	broad.mit.edu	37	chr17	60504005	60504005	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcctcagccacctaccGaatactggaggtaacctttt	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60504005G>A	ENST00000311506.5	+	3	584	c.548G>A	c.(547-549)cGa>cAa	p.R183Q		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	183					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GCCACCTACCGAATACTGGAG	0.413																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(547-549)cGa>cAa		methyltransferase like 2A							26	18	21					17																	60504005		1955	4109	6064	SO:0001583	missense	339175						methyltransferase activity	g.chr17:60504005G>A	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.548G>A	17.37:g.60504005G>A	ENSP00000309610:p.Arg183Gln						p.R183Q	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		3	584	+			183					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	c.548G>A	CCDS45752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.118826|5.118826	0.94385|0.94385	.|.	.|.	ENSG00000087995|ENSG00000087995	ENST00000333483|ENST00000311506	.|T	.|0.16743	.|2.32	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42381|0.42381	0.1200|0.1200	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.64042	.|0.921	T|T	0.37197|0.37197	-0.9716|-0.9716	6|10	0.29301|0.54805	T|T	0.29|0.06	0.0705|0.0705	15.4721|15.4721	0.75446|0.75446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|183	.|Q96IZ6	.|MTL2A_HUMAN	K|Q	182|183	.|ENSP00000309610:R183Q	ENSP00000331401:E182K|ENSP00000309610:R183Q	E|R	+|+	1|2	0|0	METTL2A|METTL2A	57857737|57857737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.073000|9.073000	0.93992|0.93992	2.431000|2.431000	0.82371|0.82371	0.555000|0.555000	0.69702|0.69702	GAA|CGA		0.413	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		16	62	0	0	0	1	0	16	62					A	60504005	G	A	60504005	3	1	79	1	0	0	0	0	1	0	0	0	9540	1058	37	1	558	1	METTL2A	17	60504005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299	60504005	20691205	17555	27872											
METTL2A	339175	broad.mit.edu	37	chr17	60518112	60518112	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttctttcagcaattgttccAgacaagtaagtttgggtccc	9	9	2	1	rs191922122	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60518112A>G	ENST00000311506.5	+	6	840	c.804A>G	c.(802-804)ccA>ccG	p.P268P		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	268					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CAATTGTTCCAGACAAGTAAG	0.433													A|||	2	0.000399361	0.0008	0.0	5008	,	,		21599	0.001		0.0	False		,,,				2504	0.0					ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(802-804)ccA>ccG		methyltransferase like 2A							232	226	228					17																	60518112		2203	4300	6503	SO:0001819	synonymous_variant	339175						methyltransferase activity	g.chr17:60518112A>G	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.804A>G	17.37:g.60518112A>G							p.P268P	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		6	840	+			268					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	37	c.804A>G	CCDS45752.1																																																																																				0.433	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		136	632	0	0	0	1	0	136	632					G	60518112	A	G	60518112	2	3	79	1	0	0	0	0	0	0	0	1	9540	175	7	4		4	METTL2A	17	60518112	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14107	60518112	20677098	17556	27873											
METTL2A	339175	broad.mit.edu	37	chr17	60522267	60522267	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgatgcttctgcgagattaCggccgctatgacatggctca	11	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60522267C>T	ENST00000311506.5	+	7	915	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	293					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGCGAGATTACGGCCGCTATG	0.488																																						ENST00000311506.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6						c.(877-879)taC>taT		methyltransferase like 2A							106	101	102					17																	60522267		2203	4300	6503	SO:0001819	synonymous_variant	339175						methyltransferase activity	g.chr17:60522267C>T	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.879C>T	17.37:g.60522267C>T							p.Y293Y	NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		7	915	+			293					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Silent	SNP	ENST00000311506.5	37	c.879C>T	CCDS45752.1																																																																																				0.488	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1	NM_181725		36	184	0	0	0	1	0	36	184					T	60522267	C	T	60522267	2	4	79	1	0	0	0	0	0	0	0	1	9540	547	19	1		1	METTL2A	17	60522267	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4155	60522267	20672943	17557	27874											
TLK2	11011	broad.mit.edu	37	chr17	60642396	60642396	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggcgtgtagagataagaGcatgcaagaccgcttgagac	14	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60642396G>T	ENST00000326270.9	+	11	1134	c.866G>T	c.(865-867)aGc>aTc	p.S289I	TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000582809.1_Missense_Mutation_p.S140I	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	289					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						AGAGATAAGAGCATGCAAGAC	0.413																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(418-420)aGc>aTc		tousled-like kinase 2							116	97	103					17																	60642396		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60642396G>T	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.866G>T	17.37:g.60642396G>T	ENSP00000316512:p.Ser289Ile					TLK2_ENST00000542523.1_Missense_Mutation_p.S257I|TLK2_ENST00000343388.7_Missense_Mutation_p.S257I|TLK2_ENST00000346027.5_Missense_Mutation_p.S289I|TLK2_ENST00000326270.9_Missense_Mutation_p.S289I	p.S140I			Q86UE8	TLK2_HUMAN			12	1122	+			289					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.419G>T		.	.	.	.	.	.	.	.	.	.	G	15.71	2.913136	0.52439	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66099	-0.14;-0.19;-0.15;-0.19	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	L	0.36672	1.1	0.80722	D	1	D;B;B;B	0.89917	1.0;0.02;0.094;0.409	D;B;B;B	0.87578	0.998;0.032;0.108;0.119	T	0.63659	-0.6587	10	0.18710	T	0.47	.	17.2555	0.87055	0.0:0.0:1.0:0.0	.	289;257;289;289	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	I	289;257;289;257	ENSP00000275780:S289I;ENSP00000340800:S257I;ENSP00000316512:S289I;ENSP00000442311:S257I	ENSP00000316512:S289I	S	+	2	0	TLK2	57996128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.558000	0.86282	0.655000	0.94253	AGC		0.413	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		53	236	1	0	9.52127e-25	1	1.09014e-24	53	236					T	60642396	G	T	60642396	3	4	79	1	0	0	0	0	1	0	0	0	15996	971	34	3	904	3	TLK2	17	60642396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120129	60642396	20552814	17558	27875											
TLK2	11011	broad.mit.edu	37	chr17	60685440	60685440	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcaagacatcctacaAgagaatacgattcttaaagc	6	10	2	2	rs200531780		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685440A>G	ENST00000326270.9	+	22	2344	c.2076A>G	c.(2074-2076)caA>caG	p.Q692Q	TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000582809.1_Silent_p.Q521Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	692	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						ACATCCTACAAGAGAATACGA	0.398																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1561-1563)caA>caG		tousled-like kinase 2							75	76	76					17																	60685440		2203	4299	6502	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685440A>G	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.2076A>G	17.37:g.60685440A>G						TLK2_ENST00000542523.1_Silent_p.Q638Q|TLK2_ENST00000343388.7_Silent_p.Q638Q|TLK2_ENST00000346027.5_Silent_p.Q670Q|TLK2_ENST00000326270.9_Silent_p.Q692Q	p.Q521Q			Q86UE8	TLK2_HUMAN			22	2266	+			692			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1563A>G																																																																																					0.398	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		58	243	0	0	0	1	0	58	243					G	60685440	A	G	60685440	2	3	79	1	0	0	0	0	0	0	0	1	15996	69	3	4		4	TLK2	17	60685440	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	43044	60685440	20509770	17559	27876											
TLK2	11011	broad.mit.edu	37	chr17	60685485	60685485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgcagttcccgccaaaGccagtagtaacacctgaagc	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685485G>A	ENST00000326270.9	+	22	2389	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000582809.1_Silent_p.K536K	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	707	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						TCCCGCCAAAGCCAGTAGTAA	0.418																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(1606-1608)aaG>aaA		tousled-like kinase 2							73	74	74					17																	60685485		2203	4300	6503	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60685485G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2121G>A	17.37:g.60685485G>A						TLK2_ENST00000542523.1_Silent_p.K653K|TLK2_ENST00000343388.7_Silent_p.K653K|TLK2_ENST00000346027.5_Silent_p.K685K|TLK2_ENST00000326270.9_Silent_p.K707K	p.K536K			Q86UE8	TLK2_HUMAN			22	2311	+			707			Protein kinase.		D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.1608G>A																																																																																					0.418	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		37	192	0	0	0	1	0	37	192					A	60685485	G	A	60685485	2	1	79	1	0	0	0	0	0	0	0	1	15996	962	34	2		2	TLK2	17	60685485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	60685485	20509725	17560	27877											
MRC2	9902	broad.mit.edu	37	chr17	60744886	60744886	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacgccacggccgagcccaCccctccaggtgagccaggga	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60744886C>T	ENST00000303375.5	+	6	1511	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	370					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						GCCGAGCCCACCCCTCCAGGT	0.692																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(1108-1110)aCc>aTc		mannose receptor, C type 2							46	41	42					17																	60744886		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60744886C>T	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.1109C>T	17.37:g.60744886C>T	ENSP00000307513:p.Thr370Ile						p.T370I	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			6	1511	+			370					A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.1109C>T	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513668	0.27123	.	.	ENSG00000011028	ENST00000303375	T	0.06933	3.24	4.69	-1.81	0.07882	C-type lectin-like (1);	0.910434	0.09602	N	0.780066	T	0.02083	0.0065	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44620	-0.9316	10	0.20519	T	0.43	-4.4615	1.3201	0.02114	0.1546:0.241:0.1522:0.4521	.	370	Q9UBG0	MRC2_HUMAN	I	370	ENSP00000307513:T370I	ENSP00000307513:T370I	T	+	2	0	MRC2	58098618	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	0.366000	0.20365	-0.496000	0.06650	-0.379000	0.06801	ACC		0.692	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			34	295	0	0	0	1	0	34	295					T	60744886	C	T	60744886	3	4	79	1	0	0	0	0	1	0	0	0	9799	507	18	2	1131	2	MRC2	17	60744886	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59401	60744886	20450324	17561	27878											
MRC2	9902	broad.mit.edu	37	chr17	60757183	60757183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcagaacccgagatccacGagcagcactggttctggatc	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60757183G>A	ENST00000303375.5	+	14	2620	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	740	C-type lectin 4. {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						CGAGATCCACGAGCAGCACTG	0.632																																						ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(2218-2220)Gag>Aag		mannose receptor, C type 2							54	45	48					17																	60757183		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60757183G>A	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.2218G>A	17.37:g.60757183G>A	ENSP00000307513:p.Glu740Lys						p.E740K	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			14	2620	+			740			C-type lectin 4.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.2218G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562535	0.86335	.	.	ENSG00000011028	ENST00000303375	T	0.18960	2.18	4.46	4.46	0.54185	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16217	-1.0410	10	0.16420	T	0.52	-27.2539	16.9236	0.86169	0.0:0.0:1.0:0.0	.	740	Q9UBG0	MRC2_HUMAN	K	740	ENSP00000307513:E740K	ENSP00000307513:E740K	E	+	1	0	MRC2	58110915	1.000000	0.71417	0.990000	0.47175	0.362000	0.29581	7.222000	0.78025	2.310000	0.77875	0.305000	0.20034	GAG		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			36	115	0	0	0	1	0	36	115					A	60757183	G	A	60757183	3	1	79	1	0	0	0	0	1	0	0	0	9799	1059	37	1	2272	1	MRC2	17	60757183	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12297	60757183	20438027	17562	27879											
MRC2	9902	broad.mit.edu	37	chr17	60767314	60767314	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactacgtgggctggcaggaCggggagccgcagcagccggg	19	11	0	0	rs568390139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60767314C>T	ENST00000303375.5	+	25	4035	c.3633C>T	c.(3631-3633)gaC>gaT	p.D1211D	MRC2_ENST00000446119.2_Silent_p.D77D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1211	C-type lectin 7. {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						GCTGGCAGGACGGGGAGCCGC	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12766	0.0		0.0	False		,,,				2504	0.0					ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(3631-3633)gaC>gaT		mannose receptor, C type 2							13	18	16					17																	60767314		2192	4285	6477	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60767314C>T	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.3633C>T	17.37:g.60767314C>T						MRC2_ENST00000446119.2_Silent_p.D77D	p.D1211D	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			25	4035	+			1211			C-type lectin 7.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.3633C>T	CCDS11634.1																																																																																				0.682	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			32	110	0	0	0	1	0	32	110					T	60767314	C	T	60767314	2	4	79	1	0	0	0	0	0	0	0	1	9799	535	19	1		1	MRC2	17	60767314	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10131	60767314	20427896	17563	27880											
MARCH10	162333	broad.mit.edu	37	chr17	60814645	60814645	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttctctcttgatttggcCtcttcagcttagtgttacac	6	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60814645C>A	ENST00000311269.5	-	6	858	c.584G>T	c.(583-585)aGg>aTg	p.R195M	RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.R194M|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	195					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						TTGATTTGGCCTCTTCAGCTT	0.468																																						ENST00000544856.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						c.(580-582)aGg>aTg		membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase							261	247	252					17																	60814645		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60814645C>A	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.584G>T	17.37:g.60814645C>A	ENSP00000311496:p.Arg195Met					RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.R233M|MARCH10_ENST00000311269.5_Missense_Mutation_p.R195M|MARCH10_ENST00000456609.2_Missense_Mutation_p.R195M|RP11-156L14.1_ENST00000577270.1_RNA	p.R194M			Q8NA82	MARHA_HUMAN			7	959	-			195					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.581G>T	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107752	0.08780	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.33216	1.42;1.42;1.42	4.98	1.82	0.25136	.	0.185545	0.38164	N	0.001786	T	0.41719	0.1171	M	0.64997	1.995	0.22562	N	0.998987	D;D;D	0.59357	0.975;0.985;0.975	P;P;P	0.55161	0.594;0.77;0.594	T	0.31833	-0.9929	10	0.87932	D	0	-5.5333	10.1264	0.42652	0.0:0.7488:0.0:0.2512	.	194;194;195	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	M	195;195;194	ENSP00000416177:R195M;ENSP00000311496:R195M;ENSP00000443746:R194M	ENSP00000311496:R195M	R	-	2	0	MARCH10	58168377	0.972000	0.33761	0.908000	0.35775	0.230000	0.25150	0.652000	0.24888	-0.072000	0.12864	-1.134000	0.01955	AGG		0.468	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		246	1081	1	0	6.07341e-79	1	7.75994e-79	246	1081					A	60814645	C	A	60814645	3	1	79	1	0	0	0	0	1	0	0	0	9340	681	24	3	1866	3	MARCH10	17	60814645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47331	60814645	20380565	17564	27881											
TANC2	26115	broad.mit.edu	37	chr17	61417467	61417467	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctttcttttgcaggtggtTgcctatcactattgtcaagc	8	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61417467T>G	ENST00000424789.2	+	10	1363	c.1359T>G	c.(1357-1359)gtT>gtG	p.V453V	TANC2_ENST00000389520.4_Silent_p.V453V|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	453					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						TGCAGGTGGTTGCCTATCACT	0.423																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1357-1359)gtT>gtG		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							87	81	83					17																	61417467		1986	4178	6164	SO:0001819	synonymous_variant	26115						binding	g.chr17:61417467T>G	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.1359T>G	17.37:g.61417467T>G						TANC2_ENST00000389520.4_Silent_p.V453V	p.V453V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			10	1363	+			453					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	c.1359T>G	CCDS45754.1																																																																																				0.423	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			14	157	0	0	0	1	0	14	157					G	61417467	T	G	61417467	2	3	79	1	0	0	0	0	0	0	0	1	15597	1799	63	4		4	TANC2	17	61417467	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	602822	61417467	19777743	17565	27882											
TANC2	26115	broad.mit.edu	37	chr17	61473130	61473130	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catttggataagaacgggcaGtgtgctttggttcatgctgc	13	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61473130G>T	ENST00000424789.2	+	16	2860	c.2856G>T	c.(2854-2856)caG>caT	p.Q952H	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	952					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						AGAACGGGCAGTGTGCTTTGG	0.502																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(2854-2856)caG>caT		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							104	108	107					17																	61473130		2119	4242	6361	SO:0001583	missense	26115						binding	g.chr17:61473130G>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2856G>T	17.37:g.61473130G>T	ENSP00000387593:p.Gln952His					AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Q952H	p.Q952H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			16	2860	+			952					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.2856G>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502657	0.64298	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.15603	2.41;2.41	5.78	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.31526	0.94	0.52099	D	0.999949	D;D	0.89917	0.998;1.0	D;D	0.83275	0.964;0.996	T	0.03008	-1.1083	10	0.44086	T	0.13	.	15.0437	0.71811	0.0683:0.0:0.9317:0.0	.	952;952	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	952	ENSP00000374171:Q952H;ENSP00000387593:Q952H	ENSP00000374171:Q952H	Q	+	3	2	TANC2	58826862	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	4.902000	0.63266	1.447000	0.47661	-0.137000	0.14449	CAG		0.502	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			10	100	1	0	0.00010058	1	0.000102273	10	100					T	61473130	G	T	61473130	3	4	79	1	0	0	0	0	1	0	0	0	15597	1020	36	3	2918	3	TANC2	17	61473130	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55663	61473130	19722080	17566	27883											
TANC2	26115	broad.mit.edu	37	chr17	61497715	61497715	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actcagcctacatctccagcTcacctcttggctctcatcag	5	17	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61497715T>A	ENST00000424789.2	+	25	4376	c.4372T>A	c.(4372-4374)Tca>Aca	p.S1458T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1458					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						CATCTCCAGCTCACCTCTTGG	0.607																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(4372-4374)Tca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							97	96	97					17																	61497715		1978	4165	6143	SO:0001583	missense	26115						binding	g.chr17:61497715T>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4372T>A	17.37:g.61497715T>A	ENSP00000387593:p.Ser1458Thr					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S1468T	p.S1458T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	4376	+			1458					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.4372T>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698321	0.68386	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.70986	-0.53;-0.53	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.70193	0.3196	N	0.19112	0.55	0.46241	D	0.998941	P	0.49447	0.924	P	0.57776	0.827	T	0.73154	-0.4072	10	0.51188	T	0.08	.	13.7905	0.63138	0.0:0.0:0.0:1.0	.	1458	Q9HCD6	TANC2_HUMAN	T	1468;1458	ENSP00000374171:S1468T;ENSP00000387593:S1458T	ENSP00000374171:S1468T	S	+	1	0	TANC2	58851447	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.808000	0.75206	2.012000	0.59069	0.459000	0.35465	TCA		0.607	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			62	262	0	0	0	1	0	62	262					A	61497715	T	A	61497715	3	1	79	1	0	0	0	0	1	0	0	0	15597	1551	54	5	4470	5	TANC2	17	61497715	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24585	61497715	19697495	17567	27884											
TANC2	26115	broad.mit.edu	37	chr17	61499068	61499068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttataacaaaaccaacaatGcacagaatggccatttgctg	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61499068G>A	ENST00000424789.2	+	25	5729	c.5725G>A	c.(5725-5727)Gca>Aca	p.A1909T	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1909					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						AACCAACAATGCACAGAATGG	0.542																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5725-5727)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							92	90	91					17																	61499068		2078	4214	6292	SO:0001583	missense	26115						binding	g.chr17:61499068G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5725G>A	17.37:g.61499068G>A	ENSP00000387593:p.Ala1909Thr					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A1919T	p.A1909T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5729	+			1909					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.5725G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061563	0.76187	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68624	-0.34;-0.34	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.68503	-0.5391	10	0.30078	T	0.28	.	18.4431	0.90674	0.0:0.0:1.0:0.0	.	1909	Q9HCD6	TANC2_HUMAN	T	1919;1909	ENSP00000374171:A1919T;ENSP00000387593:A1909T	ENSP00000374171:A1919T	A	+	1	0	TANC2	58852800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.806000	0.86020	2.868000	0.98415	0.555000	0.69702	GCA		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			67	261	0	0	0	1	0	67	261					A	61499068	G	A	61499068	3	1	79	1	0	0	0	0	1	0	0	0	15597	1319	46	2	5823	2	TANC2	17	61499068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1353	61499068	19696142	17568	27885											
ACE	1636	broad.mit.edu	37	chr17	61560026	61560026	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctgcacaaaatcggcctgCtggaccgtgtcaccaatgac	9	13	2	1	rs199697957|rs387906576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61560026C>A	ENST00000290866.4	+	8	1342	c.1318C>A	c.(1318-1320)Ctg>Atg	p.L440M	ACE_ENST00000538928.1_Missense_Mutation_p.L440M|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.L440M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	440	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)	AATCGGCCTGCTGGACCGTGT	0.652																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1318-1320)Ctg>Atg		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						71	69	70					17																	61560026		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560026C>A	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.1318C>A	17.37:g.61560026C>A	ENSP00000290866:p.Leu440Met					ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L440M|ACE_ENST00000538928.1_Missense_Mutation_p.L440M	p.L440M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			8	1342	+			440			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1318C>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800922	0.50315	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.50548	0.74;0.74;0.74	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000001	T	0.77177	0.4092	M	0.93594	3.435	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.925	D;D;D	0.91635	0.999;0.999;0.94	D	0.84157	0.0426	10	0.72032	D	0.01	-20.1876	17.8129	0.88622	0.0:1.0:0.0:0.0	.	440;440;440	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	M	440	ENSP00000439591:L440M;ENSP00000290866:L440M;ENSP00000397593:L440M	ENSP00000290866:L440M	L	+	1	2	ACE	58913758	0.998000	0.40836	0.999000	0.59377	0.056000	0.15407	3.852000	0.55934	2.434000	0.82447	0.561000	0.74099	CTG		0.652	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			26	541	1	0	1.5548e-18	1	1.72663e-18	26	541					A	61560026	C	A	61560026	3	1	79	1	0	0	0	0	1	0	0	0	136	796	28	3	1348	3	ACE	17	61560026	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60958	61560026	19635184	17569	27886											
KCNH6	81033	broad.mit.edu	37	chr17	61611263	61611263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtcctgtccctgggcgCggatgtgctgccggagtaca	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61611263C>T	ENST00000583023.1	+	5	703	c.692C>T	c.(691-693)gCg>gTg	p.A231V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	231					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)	TCCCTGGGCGCGGATGTGCTG	0.687																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(691-693)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						55	53	53					17																	61611263		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611263C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.692C>T	17.37:g.61611263C>T	ENSP00000463533:p.Ala231Val					KCNH6_ENST00000314672.5_Missense_Mutation_p.A231V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A231V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A231V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A231V	p.A231V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			5	703	+			231					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.692C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267669	0.23136	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99060	-5.38;-5.38	3.9	3.9	0.45041	.	0.062977	0.64402	D	0.000007	D	0.99089	0.9687	M	0.76727	2.345	0.80722	D	1	D;D;P;D;D	0.89917	0.999;1.0;0.868;0.997;0.967	D;D;B;P;P	0.68765	0.96;0.946;0.355;0.886;0.783	D	0.99305	1.0902	10	0.87932	D	0	.	16.4191	0.83752	0.0:1.0:0.0:0.0	.	108;231;231;231;231	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	231	ENSP00000318212:A231V;ENSP00000396900:A231V	ENSP00000318212:A231V	A	+	2	0	KCNH6	58964995	1.000000	0.71417	0.442000	0.26870	0.033000	0.12548	7.601000	0.82783	2.158000	0.67659	0.313000	0.20887	GCG		0.687	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		81	354	0	0	0	1	0	81	354					T	61611263	C	T	61611263	3	4	79	1	0	0	0	0	1	0	0	0	8066	768	27	1	710	1	KCNH6	17	61611263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51237	61611263	19583947	17570	27887											
KCNH6	81033	broad.mit.edu	37	chr17	61613124	61613124	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactctgagtatggggcggCtgtgctcttcttgctcatgt	12	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613124C>T	ENST00000583023.1	+	6	1207	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	399					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)	TATGGGGCGGCTGTGCTCTTC	0.612																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1195-1197)gCt>gTt		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						95	84	88					17																	61613124		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613124C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1196C>T	17.37:g.61613124C>T	ENSP00000463533:p.Ala399Val					KCNH6_ENST00000314672.5_Missense_Mutation_p.A399V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A399V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A399V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A399V	p.A399V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1207	+			399					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1196C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789243	0.31685	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98531	-4.98;-4.98	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	L	0.48174	1.505	0.80722	D	1	D;B;P;D;D	0.76494	0.995;0.41;0.76;0.974;0.999	D;P;P;D;D	0.78314	0.987;0.573;0.777;0.96;0.991	D	0.99869	1.1093	10	0.87932	D	0	.	17.0722	0.86577	0.0:1.0:0.0:0.0	.	276;399;399;399;399	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	399	ENSP00000318212:A399V;ENSP00000396900:A399V	ENSP00000318212:A399V	A	+	2	0	KCNH6	58966856	1.000000	0.71417	0.206000	0.23566	0.167000	0.22549	7.651000	0.83577	2.244000	0.73946	0.313000	0.20887	GCT		0.612	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		81	324	0	0	0	1	0	81	324					T	61613124	C	T	61613124	3	4	79	1	0	0	0	0	1	0	0	0	8066	797	28	2	1218	2	KCNH6	17	61613124	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1861	61613124	19582086	17571	27888											
KCNH6	81033	broad.mit.edu	37	chr17	61613207	61613207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccatcggcaatgtggagCggccctacctagaacacaag	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613207C>T	ENST00000583023.1	+	6	1290	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000314672.5_Missense_Mutation_p.R427W|KCNH6_ENST00000580652.1_Missense_Mutation_p.R427W|KCNH6_ENST00000456941.2_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	427					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)	p.R427W(1)		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)	CAATGTGGAGCGGCCCTACCT	0.632																																						ENST00000583023.1																			1	Substitution - Missense(1)	p.R427W(1)	endometrium(1)	breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1279-1281)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						80	73	76					17																	61613207		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613207C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1279C>T	17.37:g.61613207C>T	ENSP00000463533:p.Arg427Trp					KCNH6_ENST00000314672.5_Missense_Mutation_p.R427W|KCNH6_ENST00000456941.2_Intron|KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000580652.1_Missense_Mutation_p.R427W	p.R427W	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			6	1290	+			427					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1279C>T	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855162	0.32791	.	.	ENSG00000173826	ENST00000314672	D	0.98876	-5.2	4.36	3.36	0.38483	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;P	0.79784	0.993;0.964;0.964;0.827	D	0.99457	1.0942	10	0.66056	D	0.02	.	13.4504	0.61167	0.158:0.842:0.0:0.0	.	304;427;427;427	B4DPJ3;B4DKC0;Q9H252;Q9H252-3	.;.;KCNH6_HUMAN;.	W	427	ENSP00000318212:R427W	ENSP00000318212:R427W	R	+	1	2	KCNH6	58966939	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.106000	0.50322	0.996000	0.38943	0.313000	0.20887	CGG		0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		36	391	0	0	0	1	0	36	391					T	61613207	C	T	61613207	3	4	79	1	0	0	0	0	1	0	0	0	8066	759	27	1	1301	1	KCNH6	17	61613207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83	61613207	19582003	17572	27889											
STRADA	92335	broad.mit.edu	37	chr17	61781025	61781025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaagattccactgtgGtcctgagactggctgccctc	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781025G>A	ENST00000336174.6	-	13	1342	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D|LIMD2_ENST00000578402.1_5'Flank|STRADA_ENST00000580039.1_5'Flank|STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000582137.1_3'UTR|STRADA_ENST00000392950.4_3'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	410					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCCACTGTGGTCCTGAGACT	0.562																																						ENST00000336174.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(1228-1230)gaC>gaT		STE20-related kinase adaptor alpha							71	66	67					17																	61781025		2203	4300	6503	SO:0001819	synonymous_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61781025G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.1230C>T	17.37:g.61781025G>A						STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.D352D|STRADA_ENST00000392950.4_3'UTR|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000582137.1_3'UTR	p.D410D	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN			13	1342	-			410					B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	c.1230C>T	CCDS32703.1																																																																																				0.562	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			43	218	0	0	0	1	0	43	218					A	61781025	G	A	61781025	2	1	79	1	0	0	0	0	0	0	0	1	15376	1252	44	2		2	STRADA	17	61781025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167818	61781025	19414185	17573	27890											
STRADA	92335	broad.mit.edu	37	chr17	61781939	61781939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgttcagtttctctagcaGcatctggggaggacagaacc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781939G>A	ENST00000336174.6	-	11	974	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.L230L|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000579340.1_Silent_p.C172C|STRADA_ENST00000392950.4_Silent_p.L251L	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCTCTAGCAGCATCTGGGGA	0.612																																						ENST00000392950.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						c.(751-753)Ctg>Ttg		STE20-related kinase adaptor alpha							39	41	40					17																	61781939		2203	4299	6502	SO:0001819	synonymous_variant	92335				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	g.chr17:61781939G>A	AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.862C>T	17.37:g.61781939G>A						STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000375840.4_Silent_p.L230L|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000447001.3_Silent_p.L244L|STRADA_ENST00000336174.6_Silent_p.L288L|STRADA_ENST00000582137.1_Silent_p.L259L|STRADA_ENST00000579340.1_Silent_p.C172C	p.L251L	NM_001003786.2|NM_001165969.1|NM_153335.5	NP_001003786.1|NP_001159441.1|NP_699166.2	Q7RTN6	STRAA_HUMAN			9	1024	-			288			Protein kinase.		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Silent	SNP	ENST00000336174.6	37	c.751C>T	CCDS32703.1																																																																																				0.612	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1			57	244	0	0	0	1	0	57	244					A	61781939	G	A	61781939	2	1	79	1	0	0	0	0	0	0	0	1	15376	962	34	2		2	STRADA	17	61781939	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	914	61781939	19413271	17574	27891											
CCDC47	57003	broad.mit.edu	37	chr17	61838630	61838630	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctcacagcacactcgaccaGaacaccacaggttatagatg	7	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61838630G>A	ENST00000225726.5	-	5	1011	c.629C>T	c.(628-630)tCt>tTt	p.S210F	CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	210					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CACTCGACCAGAACACCACAG	0.438																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(628-630)tCt>tTt		coiled-coil domain containing 47							301	244	264					17																	61838630		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61838630G>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.629C>T	17.37:g.61838630G>A	ENSP00000225726:p.Ser210Phe					CCDC47_ENST00000582252.1_Missense_Mutation_p.S210F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S210F	p.S210F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			5	1011	-			210					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.629C>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990571	0.54041	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83418	0.5250	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	D	0.85013	0.0907	9	0.87932	D	0	-13.4833	18.8345	0.92155	0.0:0.0:1.0:0.0	.	210;210	Q96A33-2;Q96A33	.;CCD47_HUMAN	F	210	.	ENSP00000225726:S210F	S	-	2	0	CCDC47	59192362	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	9.662000	0.98603	2.760000	0.94817	0.591000	0.81541	TCT		0.438	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		200	794	0	0	0	1	0	200	794					A	61838630	G	A	61838630	3	1	79	1	0	0	0	0	1	0	0	0	2825	942	33	2	858	2	CCDC47	17	61838630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56691	61838630	19356580	17575	27892											
DDX42	11325	broad.mit.edu	37	chr17	61890627	61890627	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattaagactgtcattaActatgatgtggcacgagaca	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61890627A>C	ENST00000578681.1	+	16	2316	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	DDX42_ENST00000583590.1_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T|DDX42_ENST00000389924.2_Missense_Mutation_p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	572	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ACTGTCATTAACTATGATGTG	0.443																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1714-1716)aAc>aCc		DEAD (Asp-Glu-Ala-Asp) box helicase 42							91	81	85					17																	61890627		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61890627A>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1715A>C	17.37:g.61890627A>C	ENSP00000464050:p.Asn572Thr					DDX42_ENST00000389924.2_Missense_Mutation_p.N572T|DDX42_ENST00000583590.1_Missense_Mutation_p.N572T|DDX42_ENST00000359353.5_Missense_Mutation_p.N453T|DDX42_ENST00000457800.2_Missense_Mutation_p.N572T	p.N572T	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			16	2316	+			572			Helicase C-terminal.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1715A>C	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840372	0.91117	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.05580	3.42;3.42	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.039730	0.85682	D	0.000000	T	0.35158	0.0922	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47368	-0.9123	10	0.87932	D	0	-21.2105	15.1322	0.72533	1.0:0.0:0.0:0.0	.	118;572	B3KV84;Q86XP3	.;DDX42_HUMAN	T	572;572;308	ENSP00000374574:N572T;ENSP00000390121:N572T	ENSP00000352308:N308T	N	+	2	0	DDX42	59244359	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.230000	0.72887	0.528000	0.53228	AAC		0.443	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		59	229	0	0	0	1	0	59	229					C	61890627	A	C	61890627	3	2	79	1	0	0	0	0	1	0	0	0	4373	43	2	4	1769	4	DDX42	17	61890627	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51997	61890627	19304583	17576	27893											
FTSJ3	5705	broad.mit.edu	37	chr17	61902919	61902919	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtaagcatcatggaccCagctagccccaacgttgggg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61902919C>A	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Missense_Mutation_p.W126L|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ATCATGGACCCAGCTAGCCCC	0.557																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(376-378)tGg>tTg		FtsJ homolog 3 (E. coli)							128	105	113					17																	61902919		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902919C>A	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902919C>A	Exception_encountered						p.W126L	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			6	1022	-			126					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.377G>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243615	0.39697	.	.	ENSG00000108592	ENST00000427159	T	0.41758	0.99	4.76	4.76	0.60689	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77686	-0.2495	10	0.87932	D	0	-11.1035	15.3012	0.73952	0.0:1.0:0.0:0.0	.	126	Q8IY81	RRMJ3_HUMAN	L	126	ENSP00000396673:W126L	ENSP00000396673:W126L	W	-	2	0	FTSJ3	59256651	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.030000	0.76484	2.457000	0.83068	0.455000	0.32223	TGG		0.557	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		59	339	1	0	2.40885e-21	1	2.71177e-21	59	339					A	61902919	C	A	61902919	1	1	79	0	1	0	0	0	0	0	0	0	6116	595	21	3		3	FTSJ3	17	61902919	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12292	61902919	19292291	17577	27894											
FTSJ3	5705	broad.mit.edu	37	chr17	61903629	61903629	+	5'Flank	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttactcacccacaataaggCtggatacaggcataaacttg	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61903629C>A	ENST00000310144.6	+	0	0				FTSJ3_ENST00000427159.2_Missense_Mutation_p.S70I|PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CACAATAAGGCTGGATACAGG	0.453																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(208-210)aGc>aTc		FtsJ homolog 3 (E. coli)							197	212	207					17																	61903629		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61903629C>A	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903629C>A	Exception_encountered						p.S70I	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			4	854	-			70					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.209G>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890826	0.52014	.	.	ENSG00000108592	ENST00000427159	T	0.43294	0.95	5.04	5.04	0.67666	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67401	-0.5680	10	0.87932	D	0	-12.0766	15.9181	0.79539	0.0:1.0:0.0:0.0	.	70	Q8IY81	RRMJ3_HUMAN	I	70	ENSP00000396673:S70I	ENSP00000396673:S70I	S	-	2	0	FTSJ3	59257361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.815000	0.75242	2.618000	0.88619	0.561000	0.74099	AGC		0.453	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		230	990	1	0	1.65695e-73	1	2.10936e-73	230	990					A	61903629	C	A	61903629	1	1	79	0	1	0	0	0	0	0	0	0	6116	797	28	3		3	FTSJ3	17	61903629	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	710	61903629	19291581	17578	27895											
PSMC5	5705	broad.mit.edu	37	chr17	61908896	61908896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acattttgaagattcattctCggaagatgaacctgacccgg	9	9	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61908896C>T	ENST00000310144.6	+	10	1308	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	334	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GATTCATTCTCGGAAGATGAA	0.547																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1000-1002)Cgg>Tgg		proteasome (prosome, macropain) 26S subunit, ATPase, 5							52	56	54					17																	61908896		2202	4298	6500	SO:0001583	missense	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908896C>T	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.1000C>T	17.37:g.61908896C>T	ENSP00000310572:p.Arg334Trp					PSMC5_ENST00000580864.1_Missense_Mutation_p.R326W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R326W|PSMC5_ENST00000581882.1_Missense_Mutation_p.R326W	p.R334W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			10	1308	+			334					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	37	c.1000C>T	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891103	0.72524	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	T;T	0.79653	-1.29;-1.29	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.65773	0.923;0.938	D	0.92590	0.6082	10	0.87932	D	0	.	11.7681	0.51943	0.1752:0.8248:0.0:0.0	.	326;334	A8K3Z3;P62195	.;PRS8_HUMAN	W	334;326	ENSP00000310572:R334W;ENSP00000364970:R326W	ENSP00000310572:R334W	R	+	1	2	PSMC5	59262628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.084000	0.50143	2.861000	0.98227	0.655000	0.94253	CGG		0.547	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		9	482	0	0	0	1	0	9	482					T	61908896	C	T	61908896	3	4	79	1	0	0	0	0	1	0	0	0	12737	875	31	1	1038	1	PSMC5	17	61908896	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5267	61908896	19286314	17579	27896											
SMARCD2	6603	broad.mit.edu	37	chr17	61910711	61910711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggatgaagtcctgggggtCggtgctaaaactgagcatga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910711C>T	ENST00000448276.2	-	11	1652	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	463					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						TCCTGGGGGTCGGTGCTAAAA	0.547																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(1387-1389)Gac>Aac		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							109	110	109					17																	61910711		1977	4192	6169	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61910711C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1387G>A	17.37:g.61910711C>T	ENSP00000392617:p.Asp463Asn					SMARCD2_ENST00000225742.9_Missense_Mutation_p.D388N|SMARCD2_ENST00000323347.10_Missense_Mutation_p.D415N	p.D463N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			11	1652	-			463					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1387G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	9.034	0.987974	0.18966	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.57752	0.38;0.44	5.44	5.44	0.79542	.	0.278299	0.45867	D	0.000327	T	0.47967	0.1474	L	0.47078	1.49	0.40283	D	0.978414	B;B;B	0.17465	0.022;0.012;0.021	B;B;B	0.13407	0.004;0.006;0.009	T	0.35943	-0.9768	10	0.32370	T	0.25	-1.9548	16.7916	0.85590	0.0:1.0:0.0:0.0	.	415;426;463	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	463;405;426;415	ENSP00000392617:D463N;ENSP00000318451:D415N	ENSP00000225742:D405N	D	-	1	0	SMARCD2	59264443	0.532000	0.26346	0.983000	0.44433	0.004000	0.04260	0.995000	0.29706	2.833000	0.97629	0.650000	0.86243	GAC		0.547	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		64	319	0	0	0	1	0	64	319					T	61910711	C	T	61910711	3	4	79	1	0	0	0	0	1	0	0	0	14828	884	31	1	220	1	SMARCD2	17	61910711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1815	61910711	19284499	17580	27897											
SMARCD2	6603	broad.mit.edu	37	chr17	61910761	61910761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggtcttcagctggttgatgGactcaatggtctcatggatc	13	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910761G>A	ENST00000448276.2	-	11	1602	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F|SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	446					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						CTGGTTGATGGACTCAATGGT	0.552																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(1336-1338)tCc>tTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							131	132	131					17																	61910761		2062	4231	6293	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61910761G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1337C>T	17.37:g.61910761G>A	ENSP00000392617:p.Ser446Phe					SMARCD2_ENST00000225742.9_Missense_Mutation_p.S371F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.S398F	p.S446F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			11	1602	-			446					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.1337C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	8.546	0.874368	0.17395	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.46451	0.87;0.88	5.44	5.44	0.79542	.	0.050846	0.85682	D	0.000000	T	0.44201	0.1282	M	0.62016	1.91	0.58432	D	0.999994	B;P;P	0.44521	0.386;0.837;0.837	B;B;B	0.39876	0.053;0.29;0.312	T	0.50642	-0.8804	10	0.72032	D	0.01	-0.0812	16.7916	0.85590	0.0:0.0:1.0:0.0	.	398;409;446	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	F	446;388;409;398	ENSP00000392617:S446F;ENSP00000318451:S398F	ENSP00000225742:S388F	S	-	2	0	SMARCD2	59264493	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	6.221000	0.72243	2.833000	0.97629	0.650000	0.86243	TCC		0.552	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		90	382	0	0	0	1	0	90	382					A	61910761	G	A	61910761	3	1	79	1	0	0	0	0	1	0	0	0	14828	1174	41	2	270	2	SMARCD2	17	61910761	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	61910761	19284449	17581	27898											
CSHL1	1444	broad.mit.edu	37	chr17	61988202	61988202	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttaaaaagcctggataaGggaacggtttggacggcacc	12	8	1	0	rs112072490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61988202G>T	ENST00000309894.5	-	2	92	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_Silent_p.P31P|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	31						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						GCCTGGATAAGGGAACGGTTT	0.587																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(91-93)ccC>ccA		chorionic somatomammotropin hormone-like 1							57	61	60					17																	61988202		2203	4300	6503	SO:0001819	synonymous_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61988202G>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"chorionic somatomammotropin CS-5"	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.93C>A	17.37:g.61988202G>T						CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000309894.5_Silent_p.P31P|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron	p.P31P			Q14406	CSHL_HUMAN			2	154	-			31					D3DU26|D3DU27|Q0VDB2	Silent	SNP	ENST00000309894.5	37	c.93C>A	CCDS11652.1																																																																																				0.587	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		93	516	1	0	2.5963e-48	1	3.20365e-48	93	516					T	61988202	G	T	61988202	2	4	79	1	0	0	0	0	0	0	0	1	3953	987	35	3		3	CSHL1	17	61988202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77441	61988202	19207008	17582	27899											
CD79B	974	broad.mit.edu	37	chr17	62007651	62007651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccagctcacattgccGgaggcgctgttcatgtagca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.S72S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"Mis, O"		DLBCL																																	ENST00000006750.3				Dom	yes		17	17q23	974	"Mis, O"	"CD79b molecule, immunoglobulin-associated beta"			L			DLBCL		1	Substitution - coding silent(1)	p.S71S(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(211-213)tcC>tcT		CD79b molecule, immunoglobulin-associated beta							96	83	88					17																	62007651		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007651G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1699	protein-coding gene	gene with protein product		147245	"CD79B antigen (immunoglobulin-associated beta)"	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A						CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	p.S71S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN			3	305	-			71			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.213C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			34	200	0	0	0	1	0	34	200					A	62007651	G	A	62007651	2	1	79	1	0	0	0	0	0	0	0	1	3046	1103	39	1		1	CD79B	17	62007651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19449	62007651	19187559	17583	27900											
SCN4A	6329	broad.mit.edu	37	chr17	62021184	62021184	+	Silent	SNP	C	C	T													tagtatttcttctgttcctcCgtcataaagatgtctttccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021184C>T	ENST00000435607.1	-	22	4015	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T	SCN4A_ENST00000578147.1_Silent_p.T1313T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC). {ECO:0000269|PubMed:1310898, ECO:0000269|PubMed:18166706}.		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)	TCTGTTCCTCCGTCATAAAGA	0.552																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3937-3939)acG>acA		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						85	87	86					17																	62021184		2153	4289	6442	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021184C>T	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3939G>A	17.37:g.62021184C>T						SCN4A_ENST00000435607.1_Silent_p.T1313T	p.T1313T			P35499	SCN4A_HUMAN			22	4015	-			1313		T -> M (in PMC).			Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3939G>A	CCDS45761.1																																																																																				0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		28	117	0	0	0	1	0	28	117					T	62021184	C	T	62021184	2	4	79	1	0	0	0	0	0	0	0	1	13970	639	23	1		1	SCN4A	17	62021184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13533	62021184	19174026	17584	27901	176	2									
SCN4A	6329	broad.mit.edu	37	chr17	62021185	62021185	+	Missense_Mutation	SNP	G	G	A													agtatttcttctgttcctccGtcataaagatgtctttcccc					rs121908547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021185G>A	ENST00000435607.1	-	22	4014	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	SCN4A_ENST00000578147.1_Missense_Mutation_p.T1313M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1313			T -> M (in PMC). {ECO:0000269|PubMed:1310898, ECO:0000269|PubMed:18166706}.		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)	p.T1313M(1)		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)	CTGTTCCTCCGTCATAAAGAT	0.552																																						ENST00000578147.1																			1	Substitution - Missense(1)	p.T1313M(1)	large_intestine(1)	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	GRCh37	CM941270	SCN4A	M	rs121908547	c.(3937-3939)aCg>aTg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						82	85	84					17																	62021185		2153	4285	6438	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021185G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3938C>T	17.37:g.62021185G>A	ENSP00000396320:p.Thr1313Met					SCN4A_ENST00000435607.1_Missense_Mutation_p.T1313M	p.T1313M			P35499	SCN4A_HUMAN			22	4014	-			1313		T -> M (in PMC).			Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3938C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074254	0.76415	.	.	ENSG00000007314	ENST00000435607	D	0.97430	-4.38	3.38	3.38	0.38709	.	0.056477	0.64402	N	0.000001	D	0.99064	0.9679	H	0.98738	4.315	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	D	0.98609	1.0662	10	0.72032	D	0.01	.	14.2846	0.66238	0.0:0.0:1.0:0.0	.	1313	P35499	SCN4A_HUMAN	M	1313	ENSP00000396320:T1313M	ENSP00000396320:T1313M	T	-	2	0	SCN4A	59374917	1.000000	0.71417	0.991000	0.47740	0.941000	0.58515	9.592000	0.98245	1.903000	0.55091	0.448000	0.29417	ACG		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		22	122	0	0	0	1	0	22	122					A	62021185	G	A	62021185	3	1	79	1	0	0	0	0	1	0	0	0	13970	1145	40	1	1584	1	SCN4A	17	62021185	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	62021185	19174025	17585	27902	176	2									
SCN4A	6329	broad.mit.edu	37	chr17	62026114	62026114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtagaggcagggccagcGctgcacgcaggctgatgggg	18	11	0	2	rs199713025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62026114G>A	ENST00000435607.1	-	16	3077	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1001C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1001					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)	CAGGGCCAGCGCTGCACGCAG	0.642																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3001-3003)Cgc>Tgc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)	G	CYS/ARG	7,4341		0,7,2167	30	33	32		3001	3.1	1	17		32	0,8544		0,0,4272	yes	missense	SCN4A	NM_000334.4	180	0,7,6439	AA,AG,GG		0.0,0.161,0.0543	probably-damaging	1001/1837	62026114	7,12885	2174	4272	6446	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62026114G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3001C>T	17.37:g.62026114G>A	ENSP00000396320:p.Arg1001Cys					SCN4A_ENST00000435607.1_Missense_Mutation_p.R1001C	p.R1001C			P35499	SCN4A_HUMAN			16	3077	-			1001					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3001C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561949	0.45590	0.00161	0.0	ENSG00000007314	ENST00000435607	D	0.86956	-2.19	4.16	3.09	0.35607	Sodium ion transport-associated (1);	0.112431	0.56097	D	0.000024	D	0.92133	0.7506	M	0.87617	2.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.65874	0.939	D	0.90801	0.4694	10	0.38643	T	0.18	.	9.4304	0.38606	0.0:0.0:0.6236:0.3764	.	1001	P35499	SCN4A_HUMAN	C	1001	ENSP00000396320:R1001C	ENSP00000396320:R1001C	R	-	1	0	SCN4A	59379846	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.528000	0.45624	2.324000	0.78689	0.313000	0.20887	CGC		0.642	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		23	108	0	0	0	1	0	23	108					A	62026114	G	A	62026114	3	1	79	1	0	0	0	0	1	0	0	0	13970	1087	38	1	2545	1	SCN4A	17	62026114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4929	62026114	19169096	17586	27903											
SCN4A	6329	broad.mit.edu	37	chr17	62045589	62045589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgcacacacttctgcCtcaggtttcccatgaagagc	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62045589C>A	ENST00000435607.1	-	6	906	c.830G>T	c.(829-831)aGg>aTg	p.R277M	SCN4A_ENST00000578147.1_Missense_Mutation_p.R277M	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	277					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)	ACACTTCTGCCTCAGGTTTCC	0.547																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(829-831)aGg>aTg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						133	137	135					17																	62045589		2179	4283	6462	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045589C>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.830G>T	17.37:g.62045589C>A	ENSP00000396320:p.Arg277Met					SCN4A_ENST00000435607.1_Missense_Mutation_p.R277M	p.R277M			P35499	SCN4A_HUMAN			6	906	-			277					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.830G>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562933	0.86335	.	.	ENSG00000007314	ENST00000435607	D	0.98732	-5.1	5.21	5.21	0.72293	Ion transport (1);	0.055852	0.64402	D	0.000002	D	0.99354	0.9773	M	0.93720	3.45	0.49687	D	0.999815	D	0.89917	1.0	D	0.79108	0.992	D	0.98850	1.0758	10	0.54805	T	0.06	.	17.9347	0.89009	0.0:1.0:0.0:0.0	.	277	P35499	SCN4A_HUMAN	M	277	ENSP00000396320:R277M	ENSP00000396320:R277M	R	-	2	0	SCN4A	59399321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.717000	0.92951	0.655000	0.94253	AGG		0.547	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		108	385	1	0	1.12176e-53	1	1.39864e-53	108	385					A	62045589	C	A	62045589	3	1	79	1	0	0	0	0	1	0	0	0	13970	681	24	3	4756	3	SCN4A	17	62045589	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19475	62045589	19149621	17587	27904											
ICAM2	3384	broad.mit.edu	37	chr17	62080179	62080179	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccatccgctgctggcgCaagtgctggccgaagatgaa	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62080179C>T	ENST00000412356.1	-	6	1110	c.756G>A	c.(754-756)ttG>ttA	p.L252L	ICAM2_ENST00000579687.1_Silent_p.L252L|ICAM2_ENST00000449662.2_Silent_p.L252L|ICAM2_ENST00000581417.1_5'UTR|C17orf72_ENST00000412177.1_3'UTR|RP11-214C8.2_ENST00000580942.1_lincRNA|ICAM2_ENST00000418105.1_Silent_p.L252L|ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000579788.1_Silent_p.L252L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	252					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGCTGGCGCAAGTGCTGGC	0.622																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(754-756)ttG>ttA		intercellular adhesion molecule 2							83	62	69					17																	62080179		2203	4300	6503	SO:0001819	synonymous_variant	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62080179C>T		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.756G>A	17.37:g.62080179C>T						ICAM2_ENST00000579687.1_Silent_p.L252L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000418105.1_Silent_p.L252L|ICAM2_ENST00000578892.1_Silent_p.L228L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578379.1_Silent_p.L151L|ICAM2_ENST00000579788.1_Silent_p.L252L|ICAM2_ENST00000449662.2_Silent_p.L252L	p.L252L	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			6	1110	-			252					Q14600	Silent	SNP	ENST00000412356.1	37	c.756G>A	CCDS11657.1																																																																																				0.622	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			30	148	0	0	0	1	0	30	148					T	62080179	C	T	62080179	2	4	79	1	0	0	0	0	0	0	0	1	7510	709	25	2		2	ICAM2	17	62080179	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34590	62080179	19115031	17588	27905											
ICAM2	3384	broad.mit.edu	37	chr17	62082714	62082714	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttggcctcacgtgtacctcGaataccttctcatccgatcc	6	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62082714G>A	ENST00000412356.1	-	4	435	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.F27F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	27					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGTGTACCTCGAATACCTTCT	0.587																																						ENST00000412356.1																			0				large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						c.(79-81)ttC>ttT		intercellular adhesion molecule 2							72	55	61					17																	62082714		2203	4300	6503	SO:0001819	synonymous_variant	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62082714G>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.81C>T	17.37:g.62082714G>A						ICAM2_ENST00000579687.1_Silent_p.F27F|ICAM2_ENST00000418105.1_Silent_p.F27F|ICAM2_ENST00000578892.1_Silent_p.F27F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.F27F|ICAM2_ENST00000449662.2_Silent_p.F27F	p.F27F	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN			4	435	-			27					Q14600	Silent	SNP	ENST00000412356.1	37	c.81C>T	CCDS11657.1																																																																																				0.587	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			38	185	0	0	0	1	0	38	185					A	62082714	G	A	62082714	2	1	79	1	0	0	0	0	0	0	0	1	7510	1049	37	1		1	ICAM2	17	62082714	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2535	62082714	19112496	17589	27906											
ERN1	2081	broad.mit.edu	37	chr17	62125340	62125340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaattcacgtgcaatgaCgtcttctataaaggaggaaa	8	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	ENST00000433197.3	-	19	2502	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I		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						CGTGCAATGACGTCTTCTATA	0.438																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2407-2409)Gtc>Atc		endoplasmic reticulum to nucleus signaling 1							62	61	61					17																	62125340		1948	4144	6092	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62125340C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2407G>A	17.37:g.62125340C>T	ENSP00000401445:p.Val803Ile						p.V803I	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			19	2502	-			803			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2407G>A	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623276	0.28889	.	.	ENSG00000178607	ENST00000433197	T	0.64803	-0.12	5.23	2.68	0.31781	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148489	0.49916	N	0.000123	T	0.40979	0.1139	N	0.21194	0.64	0.39713	D	0.971359	B	0.06786	0.001	B	0.11329	0.006	T	0.13388	-1.0511	10	0.15952	T	0.53	-25.2307	6.8144	0.23822	0.0:0.5913:0.0:0.4087	.	803	O75460	ERN1_HUMAN	I	803	ENSP00000401445:V803I	ENSP00000401445:V803I	V	-	1	0	ERN1	59479072	1.000000	0.71417	0.956000	0.39512	0.802000	0.45316	0.870000	0.28010	0.657000	0.30906	0.491000	0.48974	GTC		0.438	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		26	110	0	0	0	1	0	26	110					T	62125340	C	T	62125340	3	4	79	1	0	0	0	0	1	0	0	0	5255	536	19	1	542	1	ERN1	17	62125340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42626	62125340	19069870	17590	27907											
ERN1	2081	broad.mit.edu	37	chr17	62130142	62130142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatagcctattactcacagGgttctccttacagtcttcgc	6	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	ENST00000433197.3	-	17	2346	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S		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						TTACTCACAGGGTTCTCCTTA	0.542																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2251-2253)Cct>Tct		endoplasmic reticulum to nucleus signaling 1							60	58	58					17																	62130142		1930	4138	6068	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62130142G>A	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.2251C>T	17.37:g.62130142G>A	ENSP00000401445:p.Pro751Ser						p.P751S	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			17	2346	-			751			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2251C>T	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371479	0.61624	.	.	ENSG00000178607	ENST00000433197	T	0.48836	0.8	5.49	5.49	0.81192	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	0.38904	0.1058	N	0.19112	0.55	0.80722	D	1	B	0.21071	0.051	B	0.29716	0.106	T	0.14504	-1.0470	10	0.21540	T	0.41	-16.6814	19.3787	0.94523	0.0:0.0:1.0:0.0	.	751	O75460	ERN1_HUMAN	S	751	ENSP00000401445:P751S	ENSP00000401445:P751S	P	-	1	0	ERN1	59483874	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	9.286000	0.95898	2.588000	0.87417	0.205000	0.17691	CCT		0.542	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		30	148	0	0	0	1	0	30	148					A	62130142	G	A	62130142	3	1	79	1	0	0	0	0	1	0	0	0	5255	1232	43	2	706	2	ERN1	17	62130142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4802	62130142	19065068	17591	27908											
ERN1	2081	broad.mit.edu	37	chr17	62135346	62135346	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtctggtcaaccaggTtgataaccttgcatgggaga	12	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62135346T>C	ENST00000433197.3	-	12	1309	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S		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						GTCAACCAGGTTGATAACCTT	0.552																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(1213-1215)aAc>aGc		endoplasmic reticulum to nucleus signaling 1							41	44	43					17																	62135346		2019	4170	6189	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62135346T>C	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.1214A>G	17.37:g.62135346T>C	ENSP00000401445:p.Asn405Ser						p.N405S	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			12	1309	-			405						Missense_Mutation	SNP	ENST00000433197.3	37	c.1214A>G	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	T	4.678	0.126002	0.08931	.	.	ENSG00000178607	ENST00000433197	T	0.58652	0.32	5.37	4.29	0.51040	.	0.969624	0.08586	N	0.923812	T	0.41166	0.1147	L	0.27053	0.805	0.27736	N	0.944656	B	0.02656	0.0	B	0.01281	0.0	T	0.32025	-0.9922	10	0.07644	T	0.81	-17.115	8.4424	0.32822	0.0:0.1505:0.0:0.8495	.	405	O75460	ERN1_HUMAN	S	405	ENSP00000401445:N405S	ENSP00000401445:N405S	N	-	2	0	ERN1	59489078	0.991000	0.36638	0.995000	0.50966	0.615000	0.37417	0.906000	0.28517	0.878000	0.35920	-0.379000	0.06801	AAC		0.552	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		14	32	0	0	0	1	0	14	32					C	62135346	T	C	62135346	3	2	79	1	0	0	0	0	1	0	0	0	5255	1725	60	4	1763	4	ERN1	17	62135346	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5204	62135346	19059864	17592	27909											
TEX2	55852	broad.mit.edu	37	chr17	62265718	62265718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgcctttgctgctgctgCggctgtgggtcaggtgcccg	15	13	1	0	rs532625988		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62265718C>T	ENST00000583097.1	-	5	2406	c.2234G>A	c.(2233-2235)cGc>cAc	p.R745H	TEX2_ENST00000584379.1_Missense_Mutation_p.R745H|TEX2_ENST00000258991.3_Missense_Mutation_p.R752H			Q8IWB9	TEX2_HUMAN	testis expressed 2	745					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)		GCTGCTGCTGCGGCTGTGGGT	0.577																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2254-2256)cGc>cAc		testis expressed 2							82	68	73					17																	62265718		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62265718C>T	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.2234G>A	17.37:g.62265718C>T	ENSP00000462665:p.Arg745His					TEX2_ENST00000584379.1_Missense_Mutation_p.R745H|TEX2_ENST00000583097.1_Missense_Mutation_p.R745H	p.R752H			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	5	2339	-			745					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.2255G>A		.	.	.	.	.	.	.	.	.	.	C	17.98	3.521129	0.64747	.	.	ENSG00000136478	ENST00000258991	T	0.48836	0.8	5.88	5.88	0.94601	.	0.100985	0.64402	D	0.000002	T	0.52158	0.1717	M	0.76574	2.34	0.80722	D	1	P;P	0.44578	0.838;0.75	B;B	0.37387	0.248;0.126	T	0.61103	-0.7130	10	0.72032	D	0.01	-13.9632	20.2405	0.98372	0.0:1.0:0.0:0.0	.	752;745	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	H	752	ENSP00000258991:R752H	ENSP00000258991:R752H	R	-	2	0	TEX2	59619450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.779000	0.68948	2.797000	0.96272	0.561000	0.74099	CGC		0.577	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		75	332	0	0	0	1	0	75	332					T	62265718	C	T	62265718	3	4	79	1	0	0	0	0	1	0	0	0	15833	768	27	1	1181	1	TEX2	17	62265718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130372	62265718	18929492	17593	27910											
TEX2	55852	broad.mit.edu	37	chr17	62290017	62290017	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacttgtgatatttatgagCacttggtggtgtaaaaaacc	9	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290017C>T	ENST00000583097.1	-	2	1733	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	TEX2_ENST00000584379.1_Missense_Mutation_p.A521T|TEX2_ENST00000258991.3_Missense_Mutation_p.A521T			Q8IWB9	TEX2_HUMAN	testis expressed 2	521					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)		TATTTATGAGCACTTGGTGGT	0.458																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1561-1563)Gct>Act		testis expressed 2							161	158	159					17																	62290017		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290017C>T	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.1561G>A	17.37:g.62290017C>T	ENSP00000462665:p.Ala521Thr					TEX2_ENST00000584379.1_Missense_Mutation_p.A521T|TEX2_ENST00000583097.1_Missense_Mutation_p.A521T	p.A521T			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1645	-			521					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1561G>A		.	.	.	.	.	.	.	.	.	.	C	10.88	1.476242	0.26511	.	.	ENSG00000136478	ENST00000258991	T	0.42513	0.97	6.17	6.17	0.99709	.	0.176192	0.50627	D	0.000104	T	0.33933	0.0880	L	0.56769	1.78	0.32707	N	0.512139	B;B	0.19331	0.035;0.02	B;B	0.19666	0.026;0.007	T	0.38478	-0.9659	10	0.02654	T	1	-15.5616	9.9759	0.41783	0.0:0.7834:0.1404:0.0761	.	521;521	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	T	521	ENSP00000258991:A521T	ENSP00000258991:A521T	A	-	1	0	TEX2	59643749	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.407000	0.34657	2.941000	0.99782	0.655000	0.94253	GCT		0.458	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		159	613	0	0	0	1	0	159	613					T	62290017	C	T	62290017	3	4	79	1	0	0	0	0	1	0	0	0	15833	710	25	2	1887	2	TEX2	17	62290017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24299	62290017	18905193	17594	27911											
TEX2	55852	broad.mit.edu	37	chr17	62290429	62290429	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agactgctcccctgggaactTttcagttctatctctcttgt	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290429T>G	ENST00000583097.1	-	2	1321	c.1149A>C	c.(1147-1149)aaA>aaC	p.K383N	TEX2_ENST00000584379.1_Missense_Mutation_p.K383N|TEX2_ENST00000258991.3_Missense_Mutation_p.K383N			Q8IWB9	TEX2_HUMAN	testis expressed 2	383					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)		CCTGGGAACTTTTCAGTTCTA	0.478																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1147-1149)aaA>aaC		testis expressed 2							64	66	65					17																	62290429		2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62290429T>G	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.1149A>C	17.37:g.62290429T>G	ENSP00000462665:p.Lys383Asn					TEX2_ENST00000584379.1_Missense_Mutation_p.K383N|TEX2_ENST00000583097.1_Missense_Mutation_p.K383N	p.K383N			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	1233	-			383					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.1149A>C		.	.	.	.	.	.	.	.	.	.	T	1.019	-0.685572	0.03328	.	.	ENSG00000136478	ENST00000258991	T	0.47528	0.84	6.17	-6.78	0.01721	.	0.567277	0.19790	N	0.106011	T	0.29556	0.0737	N	0.22421	0.69	0.09310	N	1	B;B	0.28605	0.217;0.138	B;B	0.26094	0.066;0.03	T	0.01945	-1.1242	10	0.42905	T	0.14	-7.3674	17.5523	0.87880	0.0:0.6324:0.0:0.3676	.	383;383	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	N	383	ENSP00000258991:K383N	ENSP00000258991:K383N	K	-	3	2	TEX2	59644161	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.499000	0.06413	-1.204000	0.02648	-0.274000	0.10170	AAA		0.478	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		86	425	0	0	0	1	0	86	425					G	62290429	T	G	62290429	3	3	79	1	0	0	0	0	1	0	0	0	15833	1838	64	4	2299	4	TEX2	17	62290429	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	412	62290429	18904781	17595	27912											
TEX2	55852	broad.mit.edu	37	chr17	62291232	62291232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaacaggggactccaacaGctttacagtgttcttggaga	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62291232G>A	ENST00000583097.1	-	2	518	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	TEX2_ENST00000584379.1_Silent_p.L116L|TEX2_ENST00000258991.3_Silent_p.L116L			Q8IWB9	TEX2_HUMAN	testis expressed 2	116					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)		GACTCCAACAGCTTTACAGTG	0.607																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(346-348)Ctg>Ttg		testis expressed 2							87	93	91					17																	62291232		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291232G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.346C>T	17.37:g.62291232G>A						TEX2_ENST00000584379.1_Silent_p.L116L|TEX2_ENST00000583097.1_Silent_p.L116L	p.L116L			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	430	-			116					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.346C>T																																																																																					0.607	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		24	793	0	0	0	1	0	24	793					A	62291232	G	A	62291232	2	1	79	1	0	0	0	0	0	0	0	1	15833	962	34	2		2	TEX2	17	62291232	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	803	62291232	18903978	17596	27913											
DDX5	1655	broad.mit.edu	37	chr17	62496398	62496398	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccttttgcccgcagagtaTctgtcccgacggtcatcctt	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62496398T>G	ENST00000225792.5	-	13	1889	c.1488A>C	c.(1486-1488)agA>agC	p.R496S	DDX5_ENST00000450599.2_Missense_Mutation_p.R417S|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	496	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)			CCGCAGAGTATCTGTCCCGAC	0.423			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1486-1488)agA>agC		DEAD (Asp-Glu-Ala-Asp) box helicase 5							88	90	90					17																	62496398		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496398T>G	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.1488A>C	17.37:g.62496398T>G	ENSP00000225792:p.Arg496Ser					DDX5_ENST00000578804.1_Missense_Mutation_p.R496S|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Missense_Mutation_p.R417S	p.R496S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1889	-	Breast(5;2.15e-14)		496					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.1488A>C	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478558	0.12521	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.45	5.45	0.79879	.	0.097898	0.64402	D	0.000001	T	0.47655	0.1457	L	0.47716	1.5	0.80722	D	1	B;B;B	0.32781	0.158;0.384;0.384	B;B;B	0.28305	0.018;0.088;0.088	T	0.47005	-0.9150	9	0.36615	T	0.2	-11.659	10.9731	0.47450	0.1394:0.0:0.0:0.8606	.	417;496;496	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	S	496;426;485	.	ENSP00000225792:R485S	R	-	3	2	DDX5	59926860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.107000	0.41844	2.190000	0.69967	0.482000	0.46254	AGA		0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		142	527	0	0	0	1	0	142	527					G	62496398	T	G	62496398	3	3	79	1	0	0	0	0	1	0	0	0	4378	1432	50	4	360	4	DDX5	17	62496398	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	205166	62496398	18698812	17597	27914											
DDX5	1655	broad.mit.edu	37	chr17	62499117	62499117	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcactcagttcaagtgCaccaatgtttatatgaatat	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62499117C>A	ENST00000225792.5	-	8	1311	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX5_ENST00000450599.2_Missense_Mutation_p.A225S|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000580026.1_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	304					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)			AGTTCAAGTGCACCAATGTTT	0.373			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(910-912)Gca>Tca		DEAD (Asp-Glu-Ala-Asp) box helicase 5							132	128	129					17																	62499117		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499117C>A	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.910G>T	17.37:g.62499117C>A	ENSP00000225792:p.Ala304Ser					DDX5_ENST00000578804.1_Missense_Mutation_p.A304S|DDX5_ENST00000450599.2_Missense_Mutation_p.A225S	p.A304S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		8	1311	-	Breast(5;2.15e-14)		304					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.910G>T	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178353	0.57692	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.31606	0.0802	N	0.01874	-0.695	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.002;0.002;0.002	T	0.41592	-0.9500	9	0.02654	T	1	-10.9695	20.2985	0.98592	0.0:1.0:0.0:0.0	.	225;304;293;304	B4DLW8;B5BUE6;B4DN41;P17844	.;.;.;DDX5_HUMAN	S	304;234;293	.	ENSP00000225792:A293S	A	-	1	0	DDX5	59929579	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.300000	0.78841	2.793000	0.96121	0.655000	0.94253	GCA		0.373	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		121	489	1	0	1.24258e-46	1	1.52757e-46	121	489					A	62499117	C	A	62499117	3	1	79	1	0	0	0	0	1	0	0	0	4378	710	25	3	958	3	DDX5	17	62499117	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2719	62499117	18696093	17598	27915											
CCDC45	90799	broad.mit.edu	37	chr17	62518874	62518874	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggaagctaggggagcctaTccgagcagctattcctttac	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62518874T>C	ENST00000556440.2	+	8	1280	c.770T>C	c.(769-771)aTc>aCc	p.I257T	CEP95_ENST00000553412.1_Missense_Mutation_p.I93T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	257						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GGGGAGCCTATCCGAGCAGCT	0.468																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(769-771)aTc>aCc		centrosomal protein 95kDa							90	90	90					17																	62518874		1894	4115	6009	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62518874T>C	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.770T>C	17.37:g.62518874T>C	ENSP00000450461:p.Ile257Thr					CEP95_ENST00000553412.1_Missense_Mutation_p.I93T	p.I257T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			8	1280	+			257					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.770T>C	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.740897	0.69304	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.50001	0.76;0.76	5.73	5.73	0.89815	.	0.151535	0.50627	D	0.000119	T	0.65801	0.2726	M	0.68952	2.095	0.38261	D	0.941871	D	0.76494	0.999	D	0.67382	0.951	T	0.72343	-0.4322	10	0.87932	D	0	-8.3178	14.5846	0.68315	0.0:0.0:0.0:1.0	.	257	Q96GE4	CEP95_HUMAN	T	192;257;93	ENSP00000450461:I257T;ENSP00000450906:I93T	ENSP00000438458:I192T	I	+	2	0	CEP95	59949336	0.998000	0.40836	0.819000	0.32651	0.488000	0.33401	5.430000	0.66501	2.191000	0.70037	0.482000	0.46254	ATC		0.468	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		56	253	0	0	0	1	0	56	253					C	62518874	T	C	62518874	3	2	79	1	0	0	0	0	1	0	0	0	2823	1435	50	4	800	4	CCDC45	17	62518874	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19757	62518874	18676336	17599	27916											
CCDC45	90799	broad.mit.edu	37	chr17	62530763	62530763	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcaaagataaaagaaaatCgacagcaaatcgttcgtgct	7	7	1	2	rs201158989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530763C>T	ENST00000556440.2	+	17	2488	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	660						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(1978-1980)Cga>Tga		centrosomal protein 95kDa							105	100	102					17																	62530763		1873	4102	5975	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62530763C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1978C>T	17.37:g.62530763C>T	ENSP00000450461:p.Arg660*					CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	p.R660*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			17	2488	+			660					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.1978C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	37	6.434597	0.97564	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	.	.	.	5.75	3.7	0.42460	.	0.118551	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1007	14.6377	0.68702	0.3794:0.6206:0.0:0.0	.	.	.	.	X	595;660;496	.	ENSP00000438458:R595X	R	+	1	2	CEP95	59961225	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	1.149000	0.31626	0.821000	0.34540	0.650000	0.86243	CGA		0.413	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		29	153	0	0	0	1	0	29	153					T	62530763	C	T	62530763	4	4	79	1	0	0	0	0	0	1	0	0	2823	876	31	1	2044	1	CCDC45	17	62530763	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11889	62530763	18664447	17600	27917											
CCDC45	90799	broad.mit.edu	37	chr17	62530843	62530843	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgatgagaatgaggacCcgggaagaaatggtaagtct	13	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530843C>T	ENST00000556440.2	+	17	2568	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	CEP95_ENST00000553412.1_Silent_p.T522T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	686						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAATGAGGACCCGGGAAGAAA	0.388																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(2056-2058)acC>acT		centrosomal protein 95kDa							79	79	79					17																	62530843		1876	4095	5971	SO:0001819	synonymous_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62530843C>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2058C>T	17.37:g.62530843C>T						CEP95_ENST00000553412.1_Silent_p.T522T	p.T686T	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			17	2568	+			686					B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	c.2058C>T	CCDS45763.1																																																																																				0.388	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		16	72	0	0	0	1	0	16	72					T	62530843	C	T	62530843	2	4	79	1	0	0	0	0	0	0	0	1	2823	610	22	2		2	CCDC45	17	62530843	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	62530843	18664367	17601	27918											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856945	62856945	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcattggtgtctagctGctcactcccaaagcctgaca	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62856945G>A	ENST00000584306.1	-	11	3849	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*|LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1107						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						GTGTCTAGCTGCTCACTCCCA	0.463																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3319-3321)Cag>Tag		leucine rich repeat containing 37, member A3							277	280	279					17																	62856945		2203	4300	6503	SO:0001587	stop_gained	374819					integral to membrane		g.chr17:62856945G>A	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.3319C>T	17.37:g.62856945G>A	ENSP00000464535:p.Gln1107*					LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q84*|LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q145*|LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1107*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q225*	p.Q1107*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	3849	-			1107					Q49A01|Q49A80|Q8NB33	Nonsense_Mutation	SNP	ENST00000584306.1	37	c.3319C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	40	8.010885	0.98607	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	.	.	.	2.46	0.0936	0.14477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.8545	0.05568	0.1715:0.0:0.544:0.2844	.	.	.	.	X	188;145;84;1107	.	ENSP00000325713:Q1107X	Q	-	1	0	LRRC37A3	60287407	0.008000	0.16893	0.003000	0.11579	0.190000	0.23558	0.579000	0.23788	-0.078000	0.12730	0.298000	0.19748	CAG		0.463	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		237	1261	0	0	0	1	0	237	1261					A	62856945	G	A	62856945	4	1	79	1	0	0	0	0	0	1	0	0	9031	1328	46	2	1601	2	LRRC37A3	17	62856945	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	326102	62856945	18338265	17602	27919											
GNA13	10672	broad.mit.edu	37	chr17	63010504	63010504	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagggcttctgttgctggtcCcggcgtttgttccggaaaca	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63010504C>T	ENST00000439174.2	-	4	1250	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	GNA13_ENST00000541118.1_Silent_p.R240R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	335					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						GTTGCTGGTCCCGGCGTTTGT	0.473																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(1003-1005)cgG>cgA		guanine nucleotide binding protein (G protein), alpha 13							131	108	116					17																	63010504		2203	4300	6503	SO:0001819	synonymous_variant	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010504C>T	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.1005G>A	17.37:g.63010504C>T						GNA13_ENST00000541118.1_Silent_p.R240R	p.R335R	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			4	1250	-			335					B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	c.1005G>A	CCDS11661.1																																																																																				0.473	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		44	341	0	0	0	1	0	44	341					T	63010504	C	T	63010504	2	4	79	1	0	0	0	0	0	0	0	1	6530	610	22	2		2	GNA13	17	63010504	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153559	63010504	18184706	17603	27920											
RGS9	8787	broad.mit.edu	37	chr17	63204111	63204111	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctattgaacctcaggaAaccaccaagaaaaggcaagt	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63204111A>C	ENST00000262406.9	+	16	1342	c.1275A>C	c.(1273-1275)gaA>gaC	p.E425D	RGS9_ENST00000443584.3_Missense_Mutation_p.E422D|RGS9_ENST00000449996.3_Missense_Mutation_p.E422D	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	425					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AACCTCAGGAAACCACCAAGA	0.413																																						ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1264-1266)gaA>gaC		regulator of G-protein signaling 9							95	84	87					17																	63204111		1866	4093	5959	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63204111A>C	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1275A>C	17.37:g.63204111A>C	ENSP00000262406:p.Glu425Asp					RGS9_ENST00000443584.3_Missense_Mutation_p.E422D|RGS9_ENST00000262406.9_Missense_Mutation_p.E425D	p.E422D	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			16	1338	+			425	E -> D (in Ref. 7; AAC25430).				A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1266A>C	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.464595	0.26335	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34275	1.38;1.37	5.34	-1.13	0.09775	.	0.337709	0.34507	N	0.003904	T	0.31702	0.0805	L	0.55481	1.735	0.27741	N	0.944487	B;B;B	0.31548	0.258;0.22;0.328	B;B;B	0.33196	0.159;0.1;0.132	T	0.33369	-0.9871	10	0.52906	T	0.07	.	12.3179	0.54969	0.4618:0.0:0.5382:0.0	.	425;425;422	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	D	425;422	ENSP00000262406:E425D;ENSP00000396329:E422D	ENSP00000262406:E425D	E	+	3	2	RGS9	60634573	0.993000	0.37304	0.987000	0.45799	0.738000	0.42128	1.044000	0.30329	-0.097000	0.12307	-0.250000	0.11733	GAA		0.413	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		53	225	0	0	0	1	0	53	225					C	63204111	A	C	63204111	3	2	79	1	0	0	0	0	1	0	0	0	13363	11	1	4	1337	4	RGS9	17	63204111	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	193607	63204111	17991099	17604	27921											
AXIN2	8313	broad.mit.edu	37	chr17	63533929	63533929	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgcgaattgagtgtgaGctcggagccctctctctctt	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63533929G>T	ENST00000375702.5	-	5	1333	c.1225C>A	c.(1225-1227)Ctc>Atc	p.L409I	AXIN2_ENST00000307078.5_Missense_Mutation_p.L409I			Q9Y2T1	AXIN2_HUMAN	axin 2	409	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGAGTGTGAGCTCGGAGCCC	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(1225-1227)Ctc>Atc		axin 2							11	14	13					17																	63533929		2188	4279	6467	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63533929G>T	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.1225C>A	17.37:g.63533929G>T	ENSP00000364854:p.Leu409Ile					AXIN2_ENST00000375702.5_Missense_Mutation_p.L409I	p.L409I	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			6	1538	-			409			Interaction with GSK3B (By similarity).		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.1225C>A		.	.	.	.	.	.	.	.	.	.	G	0.028	-1.354380	0.01256	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.83914	-1.78;-1.78	5.2	3.0	0.34707	.	1.043520	0.07559	N	0.916760	T	0.62368	0.2422	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.001	T	0.52139	-0.8615	10	0.14656	T	0.56	-0.7102	2.2886	0.04133	0.2055:0.1489:0.4932:0.1523	.	409;409	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	I	409	ENSP00000302625:L409I;ENSP00000364854:L409I	ENSP00000302625:L409I	L	-	1	0	AXIN2	60964391	0.946000	0.32159	0.453000	0.27007	0.032000	0.12392	1.091000	0.30915	1.201000	0.43203	0.650000	0.86243	CTC		0.617	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		11	50	1	0	3.07112e-06	1	3.16074e-06	11	50					T	63533929	G	T	63533929	3	4	79	1	0	0	0	0	1	0	0	0	1238	971	34	3	1330	3	AXIN2	17	63533929	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329818	63533929	17661281	17605	27922											
CCDC46	201134	broad.mit.edu	37	chr17	64092721	64092721	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagagaaactgggataggCttctgtctcaggtatcgagg	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64092721C>A	ENST00000392769.2	-	7	890	c.672G>T	c.(670-672)aaG>aaT	p.K224N	CEP112_ENST00000535342.2_Missense_Mutation_p.K224N|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	224					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGGGATAGGCTTCTGTCTCA	0.254																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(670-672)aaG>aaT		centrosomal protein 112kDa							33	35	34					17																	64092721		2201	4298	6499	SO:0001583	missense	201134					centrosome		g.chr17:64092721C>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.672G>T	17.37:g.64092721C>A	ENSP00000376522:p.Lys224Asn					CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.K224N	p.K224N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			7	890	-			224					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.672G>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	C	8.875	0.950258	0.18431	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	T;T	0.50277	0.75;0.75	5.87	2.72	0.32119	.	0.238471	0.33875	N	0.004461	T	0.37625	0.1010	L	0.36672	1.1	0.80722	D	1	P	0.39250	0.665	B	0.41088	0.347	T	0.12268	-1.0554	10	0.41790	T	0.15	-13.8133	8.9568	0.35823	0.0:0.7013:0.0:0.2987	.	224	Q8N8E3	CE112_HUMAN	N	224	ENSP00000442784:K224N;ENSP00000376522:K224N	ENSP00000376522:K224N	K	-	3	2	CEP112	61523183	1.000000	0.71417	0.999000	0.59377	0.488000	0.33401	0.495000	0.22483	0.803000	0.34113	0.591000	0.81541	AAG		0.254	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		52	203	1	0	2.22609e-26	1	2.56449e-26	52	203					A	64092721	C	A	64092721	3	1	79	1	0	0	0	0	1	0	0	0	2824	796	28	3	2445	3	CCDC46	17	64092721	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558792	64092721	17102489	17606	27923											
CCDC46	201134	broad.mit.edu	37	chr17	64171175	64171175	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacatacctgtagacatcagTtggcgactgtactaaagtgt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64171175T>C	ENST00000392769.2	-	4	675	c.457A>G	c.(457-459)Act>Gct	p.T153A	CEP112_ENST00000535342.2_Missense_Mutation_p.T153A|CEP112_ENST00000537949.1_Missense_Mutation_p.T153A	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	153					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TAGACATCAGTTGGCGACTGT	0.373																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(457-459)Act>Gct		centrosomal protein 112kDa							167	152	157					17																	64171175		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64171175T>C	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.457A>G	17.37:g.64171175T>C	ENSP00000376522:p.Thr153Ala					CEP112_ENST00000537949.1_Missense_Mutation_p.T153A|CEP112_ENST00000535342.2_Missense_Mutation_p.T153A	p.T153A	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			4	675	-			153					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.457A>G	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618009	0.28801	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.42131	0.98;0.98;0.98	5.46	-4.45	0.03546	.	1.129780	0.06523	N	0.739957	T	0.22003	0.0530	L	0.34521	1.04	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27971	-1.0058	10	0.06757	T	0.87	0.0314	3.0536	0.06177	0.0931:0.312:0.2819:0.313	.	153;153	F5GYE8;Q8N8E3	.;CE112_HUMAN	A	153	ENSP00000442784:T153A;ENSP00000376522:T153A;ENSP00000440775:T153A	ENSP00000376522:T153A	T	-	1	0	CEP112	61601637	0.024000	0.19004	0.000000	0.03702	0.687000	0.40016	-0.512000	0.06313	-0.820000	0.04318	-0.321000	0.08615	ACT		0.373	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		65	327	0	0	0	1	0	65	327					C	64171175	T	C	64171175	3	2	79	1	0	0	0	0	1	0	0	0	2824	1725	60	4	2672	4	CCDC46	17	64171175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78454	64171175	17024035	17607	27924											
APOH	350	broad.mit.edu	37	chr17	64216739	64216739	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attgtatcatttccaaacatCgcatgttgtggcaaacattc	6	9	1	0	rs367862167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64216739C>T	ENST00000205948.6	-	5	574	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	179	Sushi 3. {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)	p.A179A(1)		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)			TTCCAAACATCGCATGTTGTG	0.418																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			1	Substitution - coding silent(1)	p.A179A(1)	large_intestine(1)	central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(535-537)gcG>gcA		apolipoprotein H (beta-2-glycoprotein I)		C		1,4405	2.1+/-5.4	0,1,2202	173	157	163		537	-10.7	0	17		163	0,8600		0,0,4300	no	coding-synonymous	APOH	NM_000042.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		179/346	64216739	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64216739C>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.537G>A	17.37:g.64216739C>T							p.A179A	NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		5	574	-			179			Sushi 3.		B2R9M3|Q9UCN7	Silent	SNP	ENST00000205948.6	37	c.537G>A	CCDS11663.1																																																																																				0.418	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		70	331	0	0	0	1	0	70	331					T	64216739	C	T	64216739	2	4	79	1	0	0	0	0	0	0	0	1	804	871	31	1		1	APOH	17	64216739	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45564	64216739	16978471	17608	27925											
APOH	350	broad.mit.edu	37	chr17	64222213	64222213	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atagcgtacggctccattttCtaagattccagcaaaaggac	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64222213C>T	ENST00000205948.6	-	3	308	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	91	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)			GCTCCATTTTCTAAGATTCCA	0.343																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(271-273)Gaa>Aaa		apolipoprotein H (beta-2-glycoprotein I)							100	92	95					17																	64222213		2203	4300	6503	SO:0001583	missense	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64222213C>T		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.271G>A	17.37:g.64222213C>T	ENSP00000205948:p.Glu91Lys						p.E91K	NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		3	308	-			91			Sushi 2.		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	c.271G>A	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307477	0.40795	.	.	ENSG00000091583	ENST00000205948	T	0.63255	-0.03	5.55	3.51	0.40186	Complement control module (2);Sushi/SCR/CCP (3);	0.557452	0.20002	N	0.101316	T	0.50309	0.1608	M	0.64997	1.995	0.31164	N	0.704006	B	0.32338	0.365	B	0.30105	0.111	T	0.49588	-0.8924	10	0.06625	T	0.88	.	7.9847	0.30205	0.0:0.7538:0.16:0.0863	.	91	P02749	APOH_HUMAN	K	91	ENSP00000205948:E91K	ENSP00000205948:E91K	E	-	1	0	APOH	61652675	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	0.675000	0.31264	0.563000	0.77884	GAA		0.343	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		42	206	0	0	0	1	0	42	206					T	64222213	C	T	64222213	3	4	79	1	0	0	0	0	1	0	0	0	804	922	32	2	790	2	APOH	17	64222213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5474	64222213	16972997	17609	27926											
CACNG5	27091	broad.mit.edu	37	chr17	64880810	64880810	+	Intron	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccctaagtatggataggcTgggcctgggcactgccccac	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64880810T>C	ENST00000533854.1	+	5	807				CACNG5_ENST00000169565.3_Missense_Mutation_p.L201P|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						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)			ATGGATAGGCTGGGCCTGGGC	0.572																																						ENST00000169565.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(601-603)cTg>cCg		calcium channel, voltage-dependent, gamma subunit 5							84	80	81					17																	64880810		2203	4300	6503	SO:0001627	intron_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64880810T>C	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.570+32T>C	17.37:g.64880810T>C						CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron	p.L201P			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	602	+			0	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.602T>C	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460820	0.26248	.	.	ENSG00000075429	ENST00000169565	T	0.52057	0.68	2.11	-0.636	0.11508	.	0.400736	0.22939	U	0.053801	T	0.29093	0.0723	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.12142	-1.0559	6	.	.	.	.	2.7663	0.05321	0.0:0.1712:0.2674:0.5613	.	.	.	.	P	201	ENSP00000169565:L201P	.	L	+	2	0	CACNG5	62311272	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	-2.058000	0.01394	-0.192000	0.10432	0.496000	0.49642	CTG		0.572	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		14	412	0	0	0	1	0	14	412					C	64880810	T	C	64880810	1	2	79	0	1	0	0	0	0	0	0	0	2567	1580	55	4		4	CACNG5	17	64880810	Intron	SNP	T	TCGA-IB-7651-01A-11D-2154-08	658597	64880810	16314400	17610	27927											
CACNG5	27091	broad.mit.edu	37	chr17	64881064	64881064	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagatgaggcaggccccaGcagcgagcccatcctctgct	14	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881064G>A	ENST00000533854.1	+	6	807				CACNG5_ENST00000169565.3_Missense_Mutation_p.A286T|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						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)			GCAGGCCCCAGCAGCGAGCCC	0.622																																						ENST00000169565.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(856-858)Gca>Aca		calcium channel, voltage-dependent, gamma subunit 5							76	72	73					17																	64881064		2203	4300	6503	SO:0001627	intron_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881064G>A	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.571-36G>A	17.37:g.64881064G>A						CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron	p.A286T			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	856	+			0					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.856G>A	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809849	0.31961	.	.	ENSG00000075429	ENST00000169565	T	0.53640	0.61	3.43	0.0217	0.14130	.	.	.	.	.	T	0.30978	0.0782	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23368	-1.0190	5	.	.	.	.	3.1778	0.06575	0.1013:0.1654:0.5496:0.1837	.	.	.	.	T	286	ENSP00000169565:A286T	.	A	+	1	0	CACNG5	62311526	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.662000	0.25038	0.066000	0.16515	-0.216000	0.12614	GCA		0.622	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		56	286	0	0	0	1	0	56	286					A	64881064	G	A	64881064	1	1	79	0	1	0	0	0	0	0	0	0	2567	971	34	2		2	CACNG5	17	64881064	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	254	64881064	16314146	17611	27928											
CACNG5	27091	broad.mit.edu	37	chr17	64881352	64881352	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagatgtcctcttcacccTgctgagcctcggccgccccc	8	19	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881352T>C	ENST00000533854.1	+	6	1060	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	275				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	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)			CTCTTCACCCTGCTGAGCCTC	0.632																																						ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(823-825)Tgc>Cgc		calcium channel, voltage-dependent, gamma subunit 5							58	49	52					17																	64881352		2200	4293	6493	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881352T>C	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.823T>C	17.37:g.64881352T>C	ENSP00000436836:p.Cys275Arg					CACNG5_ENST00000307139.3_Missense_Mutation_p.C275R	p.C275R			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		6	1060	+			275	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.823T>C	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729119	0.69074	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.55413	0.52;0.52	3.27	3.27	0.37495	.	.	.	.	.	T	0.35682	0.0940	N	0.19112	0.55	0.80722	D	1	P	0.47350	0.894	B	0.38562	0.276	T	0.41963	-0.9479	9	0.87932	D	0	.	11.8613	0.52467	0.0:0.0:0.0:1.0	.	275	Q9UF02	CCG5_HUMAN	R	275	ENSP00000436836:C275R;ENSP00000303092:C275R	ENSP00000303092:C275R	C	+	1	0	CACNG5	62311814	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	7.114000	0.77103	1.744000	0.51775	0.491000	0.48974	TGC		0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		65	324	0	0	0	1	0	65	324					C	64881352	T	C	64881352	3	2	79	1	0	0	0	0	1	0	0	0	2567	1580	55	4	1158	4	CACNG5	17	64881352	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	288	64881352	16313858	17612	27929											
CACNG4	27092	broad.mit.edu	37	chr17	65026808	65026808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacgggaattccttaaggcGtcttcctcttctccttatgc	7	12	3	0	rs377684890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization (GO:0051899)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542																																						ENST00000262138.3																			1	Substitution - coding silent(1)	p.A224A(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(670-672)gcG>gcA		calcium channel, voltage-dependent, gamma subunit 4		G		0,4406		0,0,2203	81	84	83		672	-9.7	0.2	17		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG4	NM_014405.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		224/328	65026808	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65026808G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.672G>A	17.37:g.65026808G>A							p.A224A	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		4	674	+	all_cancers(12;9.86e-11)		224					B2RCK0	Silent	SNP	ENST00000262138.3	37	c.672G>A	CCDS11667.1																																																																																				0.542	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		104	563	0	0	0	1	0	104	563					A	65026808	G	A	65026808	2	1	79	1	0	0	0	0	0	0	0	1	2566	1132	40	1		1	CACNG4	17	65026808	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	145456	65026808	16168402	17613	27930											
CACNG1	786	broad.mit.edu	37	chr17	65051341	65051341	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgacccgcgtccatgTtctatgcctttgcaggtaga	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65051341T>G	ENST00000226021.3	+	3	498	c.427T>G	c.(427-429)Ttc>Gtc	p.F143V		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	143					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CGCGTCCATGTTCTATGCCTT	0.637																																						ENST00000226021.3																			0				breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8						c.(427-429)Ttc>Gtc		calcium channel, voltage-dependent, gamma subunit 1	Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)						89	72	78					17																	65051341		2203	4300	6503	SO:0001583	missense	786				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr17:65051341T>G	L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"Calcium channel subunits"	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.427T>G	17.37:g.65051341T>G	ENSP00000226021:p.Phe143Val						p.F143V	NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN			3	498	+	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)		143					B2R9N3|Q14D59	Missense_Mutation	SNP	ENST00000226021.3	37	c.427T>G	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.727081	0.48833	.	.	ENSG00000108878	ENST00000226021	T	0.67171	-0.25	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.83852	2.665	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.82566	-0.0393	10	0.38643	T	0.18	.	14.9508	0.71071	0.0:0.0:0.0:1.0	.	143	Q06432	CCG1_HUMAN	V	143	ENSP00000226021:F143V	ENSP00000226021:F143V	F	+	1	0	CACNG1	62481803	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	7.988000	0.88194	1.944000	0.56390	0.379000	0.24179	TTC		0.637	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1			16	262	0	0	0	1	0	16	262					G	65051341	T	G	65051341	3	3	79	1	0	0	0	0	1	0	0	0	2563	1725	60	4	437	4	CACNG1	17	65051341	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24533	65051341	16143869	17614	27931											
HELZ	9931	broad.mit.edu	37	chr17	65083046	65083046	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaggactccggggatgaaAagttgaaagaagattggtta	13	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65083046A>C	ENST00000358691.5	-	32	5559	c.5393T>G	c.(5392-5394)tTt>tGt	p.F1798C	HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1798						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)					CGGGGATGAAAAGTTGAAAGA	0.473																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5392-5394)tTt>tGt		helicase with zinc finger							148	155	153					17																	65083046		2031	4194	6225	SO:0001583	missense	9931							g.chr17:65083046A>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5393T>G	17.37:g.65083046A>C	ENSP00000351524:p.Phe1798Cys					HELZ_ENST00000580168.1_Missense_Mutation_p.F1799C	p.F1798C	NM_014877.3	NP_055692.2					32	5559	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5393T>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059441	0.36373	.	.	ENSG00000198265	ENST00000358691	D	0.84800	-1.9	5.7	4.59	0.56863	.	0.053448	0.85682	D	0.000000	T	0.75213	0.3819	N	0.14661	0.345	0.39299	D	0.964868	D;D	0.57257	0.979;0.979	P;P	0.46362	0.514;0.514	T	0.79391	-0.1823	10	0.87932	D	0	-17.7225	8.4921	0.33106	0.608:0.0:0.0:0.392	.	1799;1798	B7ZLW2;P42694	.;HELZ_HUMAN	C	1798	ENSP00000351524:F1798C	ENSP00000351524:F1798C	F	-	2	0	HELZ	62513508	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	4.895000	0.63214	2.166000	0.68216	0.528000	0.53228	TTT		0.473	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		101	461	0	0	0	1	0	101	461					C	65083046	A	C	65083046	3	2	79	1	0	0	0	0	1	0	0	0	7079	14	1	4	443	4	HELZ	17	65083046	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31705	65083046	16112164	17615	27932											
HELZ	9931	broad.mit.edu	37	chr17	65144688	65144688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggcagttcacacctacttgAtgatagcttcatgggagcgg	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65144688A>G	ENST00000358691.5	-	20	2784	c.2618T>C	c.(2617-2619)aTc>aCc	p.I873T	HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	873						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)					CACCTACTTGATGATAGCTTC	0.483																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2617-2619)aTc>aCc		helicase with zinc finger							193	190	191					17																	65144688		1937	4147	6084	SO:0001583	missense	9931							g.chr17:65144688A>G	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.2618T>C	17.37:g.65144688A>G	ENSP00000351524:p.Ile873Thr					HELZ_ENST00000580168.1_Missense_Mutation_p.I874T	p.I873T	NM_014877.3	NP_055692.2					20	2784	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2618T>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671671	0.47781	.	.	ENSG00000198265	ENST00000358691	D	0.82984	-1.67	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90981	0.7164	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.978;0.986	D	0.92074	0.5667	10	0.87932	D	0	.	16.1449	0.81559	1.0:0.0:0.0:0.0	.	874;873	B7ZLW2;P42694	.;HELZ_HUMAN	T	873	ENSP00000351524:I873T	ENSP00000351524:I873T	I	-	2	0	HELZ	62575150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.426000	0.90273	2.269000	0.75478	0.455000	0.32223	ATC		0.483	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		74	843	0	0	0	1	0	74	843					G	65144688	A	G	65144688	3	3	79	1	0	0	0	0	1	0	0	0	7079	333	12	4	3266	4	HELZ	17	65144688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	61642	65144688	16050522	17616	27933											
HELZ	9931	broad.mit.edu	37	chr17	65162603	65162603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttttgtacctgttaggaCtccatggtatggtgggagtc	12	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65162603C>T	ENST00000358691.5	-	15	2052	c.1886G>A	c.(1885-1887)aGt>aAt	p.S629N	HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	629						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)					CCTGTTAGGACTCCATGGTAT	0.358																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1885-1887)aGt>aAt		helicase with zinc finger							141	129	133					17																	65162603		1851	4112	5963	SO:0001583	missense	9931							g.chr17:65162603C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1886G>A	17.37:g.65162603C>T	ENSP00000351524:p.Ser629Asn					HELZ_ENST00000580168.1_Missense_Mutation_p.S629N	p.S629N	NM_014877.3	NP_055692.2					15	2052	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1886G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637614	0.47049	.	.	ENSG00000198265	ENST00000358691	D	0.84223	-1.82	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76673	0.4020	N	0.17082	0.46	0.80722	D	1	B;B	0.31837	0.342;0.288	B;B	0.28709	0.093;0.076	T	0.74112	-0.3770	10	0.36615	T	0.2	-16.2585	19.6559	0.95842	0.0:1.0:0.0:0.0	.	629;629	B7ZLW2;P42694	.;HELZ_HUMAN	N	629	ENSP00000351524:S629N	ENSP00000351524:S629N	S	-	2	0	HELZ	62593065	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.358000	0.79466	2.657000	0.90304	0.491000	0.48974	AGT		0.358	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		73	327	0	0	0	1	0	73	327					T	65162603	C	T	65162603	3	4	79	1	0	0	0	0	1	0	0	0	7079	565	20	2	4018	2	HELZ	17	65162603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17915	65162603	16032607	17617	27934											
PSMD12	5718	broad.mit.edu	37	chr17	65337095	65337095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctctggaagttgataAttcctgctaatctgtctact	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65337095A>G	ENST00000356126.3	-	11	1342	c.1235T>C	c.(1234-1236)aTt>aCt	p.I412T	PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	412	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAGTTGATAATTCCTGCTAA	0.368																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(1234-1236)aTt>aCt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							88	89	89					17																	65337095		2203	4299	6502	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65337095A>G	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1235T>C	17.37:g.65337095A>G	ENSP00000348442:p.Ile412Thr					PSMD12_ENST00000357146.4_Missense_Mutation_p.I392T	p.I412T	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			11	1342	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		412			PCI.		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.1235T>C	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965439	0.74131	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.30981	1.51;1.51	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.099183	0.64402	D	0.000002	T	0.52435	0.1734	M	0.71036	2.16	0.80722	D	1	D;B	0.57257	0.979;0.43	D;P	0.64877	0.93;0.697	T	0.56074	-0.8039	10	0.56958	D	0.05	-7.9757	14.3834	0.66926	1.0:0.0:0.0:0.0	.	392;412	A6NP15;O00232	.;PSD12_HUMAN	T	412;392	ENSP00000348442:I412T;ENSP00000349667:I392T	ENSP00000348442:I412T	I	-	2	0	PSMD12	62767557	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.894000	0.92506	1.808000	0.52836	0.397000	0.26171	ATT		0.368	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		67	321	0	0	0	1	0	67	321					G	65337095	A	G	65337095	3	3	79	1	0	0	0	0	1	0	0	0	12742	101	4	4	139	4	PSMD12	17	65337095	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174492	65337095	15858115	17618	27935											
PSMD12	5718	broad.mit.edu	37	chr17	65353435	65353435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgttttaactgactcCgccttttggacaaaagcata	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65353435C>T	ENST00000356126.3	-	3	388	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	94					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TAACTGACTCCGCCTTTTGGA	0.358																																						ENST00000356126.3																			0				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13						c.(280-282)cGg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 12							69	68	69					17																	65353435		2203	4300	6503	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65353435C>T	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.281G>A	17.37:g.65353435C>T	ENSP00000348442:p.Arg94Gln					PSMD12_ENST00000357146.4_Missense_Mutation_p.R74Q|PSMD12_ENST00000581618.1_5'UTR	p.R94Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN			3	388	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		94					A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.281G>A	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	33	5.233416	0.95207	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.43688	3.35;0.94	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.73678	-0.3907	10	0.54805	T	0.06	-13.7726	18.9241	0.92537	0.0:1.0:0.0:0.0	.	74;94	A6NP15;O00232	.;PSD12_HUMAN	Q	94;74	ENSP00000348442:R94Q;ENSP00000349667:R74Q	ENSP00000348442:R94Q	R	-	2	0	PSMD12	62783897	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.356000	0.79445	2.477000	0.83638	0.591000	0.81541	CGG		0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		7	140	0	0	0	1	0	7	140					T	65353435	C	T	65353435	3	4	79	1	0	0	0	0	1	0	0	0	12742	652	23	1	1125	1	PSMD12	17	65353435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16340	65353435	15841775	17619	27936											
PITPNC1	26207	broad.mit.edu	37	chr17	65671660	65671660	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggttgatgagtggtatggTaagtcaatttctccaaaata	11	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	ENST00000581322.1	+	8	682		c.e8+2		PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000580974.1_Splice_Site|PITPNC1_ENST00000335257.6_Splice_Site			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1						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)			AGTGGTATGGTAAGTCAATTT	0.408																																						ENST00000580974.1																			0				breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.e8+2		phosphatidylinositol transfer protein, cytoplasmic 1							182	171	174					17																	65671660		1917	4128	6045	SO:0001630	splice_region_variant	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65671660T>C	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.682+2T>C	17.37:g.65671660T>C						PITPNC1_ENST00000335257.6_Splice_Site|PITPNC1_ENST00000299954.9_Splice_Site|PITPNC1_ENST00000581322.1_Splice_Site		NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		8	1378	+	all_cancers(12;3.03e-10)							A8K473|J3QR20|Q96I07	Splice_Site	SNP	ENST00000581322.1	37		CCDS58588.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874773	0.91664	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0985	0.81148	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PITPNC1	63102122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.915000	0.87484	2.216000	0.71823	0.443000	0.29094	.		0.408	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417	Intron	75	349	0	0	0	1	0	75	349					C	65671660	T	C	65671660	5	2	79	1	0	0	0	0	0	0	1	0	11991	1652	57	4	714	4	PITPNC1	17	65671660	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	318225	65671660	15523550	17620	27937											
NOL11	25926	broad.mit.edu	37	chr17	65714073	65714073	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctcaaaatggcagcgCtggaggaagaattcacgttg	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65714073C>A	ENST00000253247.4	+	1	125	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	4					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATGGCAGCGCTGGAGGAAGA	0.592											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253247.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11						c.(10-12)Ctg>Atg		nucleolar protein 11							48	44	45					17																	65714073		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65714073C>A	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.10C>A	17.37:g.65714073C>A	ENSP00000253247:p.Leu4Met		OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	NOL11_ENST00000581966.1_3'UTR|NOL11_ENST00000535137.1_5'UTR	p.L4M	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	125	+	all_cancers(12;1.54e-10)		4					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.10C>A	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080987	0.20309	.	.	ENSG00000130935	ENST00000253247	T	0.59638	0.25	4.91	0.587	0.17439	.	0.000000	0.64402	D	0.000001	T	0.67915	0.2944	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.65973	-0.6038	10	0.72032	D	0.01	-9.876	8.0543	0.30596	0.0:0.582:0.0:0.418	.	4	Q9H8H0	NOL11_HUMAN	M	4	ENSP00000253247:L4M	ENSP00000253247:L4M	L	+	1	2	NOL11	63144535	0.885000	0.30320	0.995000	0.50966	0.477000	0.33069	0.410000	0.21098	0.079000	0.16929	-0.254000	0.11334	CTG		0.592	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		11	195	1	0	0.000673444	1	0.000681208	11	195					A	65714073	C	A	65714073	3	1	79	1	0	0	0	0	1	0	0	0	10563	796	28	3	12	3	NOL11	17	65714073	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42413	65714073	15481137	17621	27938											
BPTF	2186	broad.mit.edu	37	chr17	65862587	65862587	+	Missense_Mutation	SNP	G	G	T													catttttaaacagagaagaaGatacagaaaatgaaaatgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862587G>T	ENST00000321892.4	+	3	1505	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	482					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)			CAGAGAAGAAGATACAGAAAA	0.328																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1444-1446)Gat>Tat		bromodomain PHD finger transcription factor							65	76	73					17																	65862587		2197	4296	6493	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862587G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.1444G>T	17.37:g.65862587G>T	ENSP00000315454:p.Asp482Tyr					BPTF_ENST00000306378.6_Missense_Mutation_p.D482Y|BPTF_ENST00000335221.5_Missense_Mutation_p.D482Y|BPTF_ENST00000424123.3_Missense_Mutation_p.D343Y	p.D482Y			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1505	+	all_cancers(12;6e-11)		482					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1444G>T		.	.	.	.	.	.	.	.	.	.	G	15.58	2.875642	0.51695	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.64991	-0.11;-0.13;-0.12	5.84	5.84	0.93424	.	.	.	.	.	T	0.66376	0.2783	L	0.49350	1.555	0.80722	D	1	B;P;P	0.47106	0.128;0.756;0.89	B;P;P	0.49683	0.03;0.619;0.6	T	0.68720	-0.5334	9	0.72032	D	0.01	.	14.9343	0.70941	0.0:0.0:0.8571:0.1429	.	482;482;482	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Y	387;482;482;482;343	ENSP00000307208:D482Y;ENSP00000334351:D482Y;ENSP00000315454:D482Y	ENSP00000307208:D482Y	D	+	1	0	BPTF	63293049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.618000	0.74214	2.760000	0.94817	0.655000	0.94253	GAT		0.328	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		101	505	1	0	2.76703e-59	1	3.4739e-59	101	505					T	65862587	G	T	65862587	3	4	79	1	0	0	0	0	1	0	0	0	1499	942	33	3	1454	3	BPTF	17	65862587	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148514	65862587	15332623	17622	27939	177	2									
BPTF	2186	broad.mit.edu	37	chr17	65862593	65862593	+	Missense_Mutation	SNP	G	G	A													taaacagagaagaagatacaGaaaatgaaaatgaaaagaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862593G>A	ENST00000321892.4	+	3	1511	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	BPTF_ENST00000306378.6_Missense_Mutation_p.E484K|BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	484					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)			AGAAGATACAGAAAATGAAAA	0.333																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1450-1452)Gaa>Aaa		bromodomain PHD finger transcription factor							68	80	76					17																	65862593		2198	4297	6495	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65862593G>A	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.1450G>A	17.37:g.65862593G>A	ENSP00000315454:p.Glu484Lys					BPTF_ENST00000306378.6_Missense_Mutation_p.E484K|BPTF_ENST00000335221.5_Missense_Mutation_p.E484K|BPTF_ENST00000424123.3_Missense_Mutation_p.E345K	p.E484K			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1511	+	all_cancers(12;6e-11)		484					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.1450G>A		.	.	.	.	.	.	.	.	.	.	G	17.37	3.372993	0.61624	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.65178	-0.1;-0.14;-0.13	5.84	5.84	0.93424	.	.	.	.	.	T	0.74741	0.3756	M	0.65975	2.015	0.58432	D	0.999999	P;D;D	0.56968	0.457;0.972;0.978	B;P;P	0.56343	0.081;0.737;0.796	T	0.76454	-0.2953	9	0.72032	D	0.01	.	18.3357	0.90287	0.0:0.0:1.0:0.0	.	484;484;484	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	K	389;484;484;484;345	ENSP00000307208:E484K;ENSP00000334351:E484K;ENSP00000315454:E484K	ENSP00000307208:E484K	E	+	1	0	BPTF	63293055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.177000	0.89688	2.760000	0.94817	0.655000	0.94253	GAA		0.333	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		104	530	0	0	0	1	0	104	530					A	65862593	G	A	65862593	3	1	79	1	0	0	0	0	1	0	0	0	1499	943	33	2	1460	2	BPTF	17	65862593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	65862593	15332617	17623	27940	177	2									
BPTF	2186	broad.mit.edu	37	chr17	65905755	65905755	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaagaaaatgttcacgaaGtccaaaaaaaataaaaatag	5	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65905755G>A	ENST00000321892.4	+	12	3309	c.3248G>A	c.(3247-3249)aGt>aAt	p.S1083N	BPTF_ENST00000306378.6_Missense_Mutation_p.S957N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1083					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)			TGTTCACGAAGTCCAAAAAAA	0.318																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(3247-3249)aGt>aAt		bromodomain PHD finger transcription factor							40	43	42					17																	65905755		2201	4299	6500	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65905755G>A	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.3248G>A	17.37:g.65905755G>A	ENSP00000315454:p.Ser1083Asn					BPTF_ENST00000306378.6_Missense_Mutation_p.S957N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1083N|BPTF_ENST00000424123.3_Missense_Mutation_p.S944N	p.S1083N			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		12	3309	+	all_cancers(12;6e-11)		1083					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.3248G>A		.	.	.	.	.	.	.	.	.	.	G	12.82	2.053760	0.36277	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.63255	-0.02;-0.03;-0.02	5.55	5.55	0.83447	.	.	.	.	.	T	0.63651	0.2529	L	0.29908	0.895	0.32590	N	0.527265	P;D	0.56035	0.955;0.974	P;P	0.56216	0.718;0.794	T	0.65635	-0.6120	9	0.31617	T	0.26	-13.4805	14.8729	0.70471	0.0:0.0:1.0:0.0	.	957;1083	Q12830-2;Q12830-4	.;.	N	957;1083;1083	ENSP00000307208:S957N;ENSP00000334351:S1083N;ENSP00000315454:S1083N	ENSP00000307208:S957N	S	+	2	0	BPTF	63336217	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.235000	0.58666	2.885000	0.99019	0.655000	0.94253	AGT		0.318	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		26	116	0	0	0	1	0	26	116					A	65905755	G	A	65905755	3	1	79	1	0	0	0	0	1	0	0	0	1499	1029	36	2	3294	2	BPTF	17	65905755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43162	65905755	15289455	17624	27941											
BPTF	2186	broad.mit.edu	37	chr17	65907902	65907902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgtgtctattcaggataGcagtgaagaagatatgattg	11	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65907902G>A	ENST00000321892.4	+	13	4341	c.4280G>A	c.(4279-4281)aGc>aAc	p.S1427N	BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1427					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)			ATTCAGGATAGCAGTGAAGAA	0.393																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(4279-4281)aGc>aAc		bromodomain PHD finger transcription factor							107	104	105					17																	65907902		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65907902G>A	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.4280G>A	17.37:g.65907902G>A	ENSP00000315454:p.Ser1427Asn					BPTF_ENST00000306378.6_Missense_Mutation_p.S1301N|BPTF_ENST00000335221.5_Missense_Mutation_p.S1427N|BPTF_ENST00000424123.3_Missense_Mutation_p.S1288N	p.S1427N			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		13	4341	+	all_cancers(12;6e-11)		1427					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.4280G>A		.	.	.	.	.	.	.	.	.	.	G	7.229	0.598910	0.13939	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.62232	0.05;0.04;0.04	5.34	3.33	0.38152	.	.	.	.	.	T	0.38453	0.1041	N	0.14661	0.345	0.39794	D	0.972479	B;B	0.17268	0.018;0.021	B;B	0.15484	0.011;0.013	T	0.21655	-1.0239	9	0.06757	T	0.87	-8.1721	10.6426	0.45602	0.1843:0.0:0.8157:0.0	.	1301;1427	Q12830-2;Q12830-4	.;.	N	1301;1427;1427	ENSP00000307208:S1301N;ENSP00000334351:S1427N;ENSP00000315454:S1427N	ENSP00000307208:S1301N	S	+	2	0	BPTF	63338364	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.674000	0.46867	2.478000	0.83669	0.650000	0.86243	AGC		0.393	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		50	370	0	0	0	1	0	50	370					A	65907902	G	A	65907902	3	1	79	1	0	0	0	0	1	0	0	0	1499	971	34	2	4330	2	BPTF	17	65907902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2147	65907902	15287308	17625	27942											
BPTF	2186	broad.mit.edu	37	chr17	65924474	65924474	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcacttttttagaaaCgactggagcagcagaagccg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65924474C>T	ENST00000321892.4	+	18	6194	c.6133C>T	c.(6133-6135)Cga>Tga	p.R2045*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2045					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)			TTTTTAGAAACGACTGGAGCA	0.418																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(6133-6135)Cga>Tga		bromodomain PHD finger transcription factor							46	43	44					17																	65924474		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65924474C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6133C>T	17.37:g.65924474C>T	ENSP00000315454:p.Arg2045*					BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1919*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2045*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1906*	p.R2045*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		18	6194	+	all_cancers(12;6e-11)		2045					Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.6133C>T		.	.	.	.	.	.	.	.	.	.	C	44	10.770991	0.99464	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3055	20.4024	0.99000	0.0:1.0:0.0:0.0	.	.	.	.	X	1919;2045;2045	.	ENSP00000307208:R1919X	R	+	1	2	BPTF	63354936	1.000000	0.71417	0.998000	0.56505	0.147000	0.21601	7.412000	0.80091	2.827000	0.97445	0.650000	0.86243	CGA		0.418	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		32	176	0	0	0	1	0	32	176					T	65924474	C	T	65924474	4	4	79	1	0	0	0	0	0	1	0	0	1499	528	19	1	6203	1	BPTF	17	65924474	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16572	65924474	15270736	17626	27943											
BPTF	2186	broad.mit.edu	37	chr17	65971920	65971920	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaaagagtacaaagaCgatattatgaaaagctgacg	11	4	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65971920C>T	ENST00000321892.4	+	29	9011	c.8950C>T	c.(8950-8952)Cga>Tga	p.R2984*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*|RN7SL622P_ENST00000585292.1_RNA|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2984	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			AGTACAAAGACGATATTATGA	0.363																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(8950-8952)Cga>Tga		bromodomain PHD finger transcription factor							86	84	85					17																	65971920		2203	4300	6503	SO:0001587	stop_gained	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65971920C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8950C>T	17.37:g.65971920C>T	ENSP00000315454:p.Arg2984*					BPTF_ENST00000306378.6_Nonsense_Mutation_p.R2858*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R2841*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R2702*	p.R2984*			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		29	9011	+	all_cancers(12;6e-11)		2984			Bromo.		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	ENST00000321892.4	37	c.8950C>T		.	.	.	.	.	.	.	.	.	.	C	51	18.463470	0.99905	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	.	.	.	5.64	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8102	15.5413	0.76052	0.147:0.853:0.0:0.0	.	.	.	.	X	2858;2841;2984;189	.	ENSP00000307208:R2858X	R	+	1	2	BPTF	63402382	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.983000	0.70540	1.346000	0.45694	0.591000	0.81541	CGA		0.363	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		47	266	0	0	0	1	0	47	266					T	65971920	C	T	65971920	4	4	79	1	0	0	0	0	0	1	0	0	1499	528	19	1	9064	1	BPTF	17	65971920	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47446	65971920	15223290	17627	27944											
ARSG	22901	broad.mit.edu	37	chr17	66339816	66339816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctcaccggccggcttgGccttcgcaatggagtcacac	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66339816G>A	ENST00000448504.2	+	3	1086	c.290G>A	c.(289-291)gGc>gAc	p.G97D	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	97					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)			GGCCGGCTTGGCCTTCGCAAT	0.612																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(289-291)gGc>gAc		arylsulfatase G							72	61	65					17																	66339816		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66339816G>A	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.290G>A	17.37:g.66339816G>A	ENSP00000407193:p.Gly97Asp					ARSG_ENST00000452479.2_5'UTR	p.G97D	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	1086	+			97					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.290G>A	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.746529	0.89663	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.86	4.86	0.63082	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85275	0.1058	9	0.51188	T	0.08	.	17.7751	0.88504	0.0:0.0:1.0:0.0	.	97	Q96EG1	ARSG_HUMAN	D	97	.	ENSP00000413953:G97D	G	+	2	0	ARSG	63851411	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	8.229000	0.89791	2.514000	0.84764	0.650000	0.86243	GGC		0.612	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		60	259	0	0	0	1	0	60	259					A	66339816	G	A	66339816	3	1	79	1	0	0	0	0	1	0	0	0	993	1203	42	2	296	2	ARSG	17	66339816	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	367896	66339816	14855394	17628	27945											
WIPI1	55062	broad.mit.edu	37	chr17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaggtgtccactggatgacGcaactagcagccgtggcaac	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					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						ACTGGATGACGCAACTAGCAG	0.458																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(994-996)gCg>gTg		WD repeat domain, phosphoinositide interacting 1							93	75	81					17																	66425048		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66425048G>A		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.995C>T	17.37:g.66425048G>A	ENSP00000262139:p.Ala332Val					WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V	p.A332V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			10	994	-			332					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.995C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690742	0.48097	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54279	0.58;2.17	5.33	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217883	0.48286	D	0.000186	T	0.36880	0.0983	L	0.31157	0.91	0.23180	N	0.998168	B	0.26147	0.143	B	0.27608	0.081	T	0.16928	-1.0386	10	0.12430	T	0.62	-10.6268	11.958	0.52993	0.1781:0.0:0.8219:0.0	.	332	Q5MNZ9	WIPI1_HUMAN	V	332;250	ENSP00000262139:A332V;ENSP00000437345:A250V	ENSP00000262139:A332V	A	-	2	0	WIPI1	63936643	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	5.917000	0.69989	1.139000	0.42245	0.557000	0.71058	GCG		0.458	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		22	160	0	0	0	1	0	22	160					A	66425048	G	A	66425048	3	1	79	1	0	0	0	0	1	0	0	0	17424	1087	38	1	361	1	WIPI1	17	66425048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85232	66425048	14770162	17629	27946											
PRKAR1A	5573	broad.mit.edu	37	chr17	66520194	66520194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttttcggtctcctttatcGcaggagagactgtgattcag	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66520194G>A	ENST00000589228.1	+	5	606	c.478G>A	c.(478-480)Gca>Aca	p.A160T	PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	160					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTCCTTTATCGCAGGAGAGAC	0.418			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"Dom, Rec"	yes	Carney complex	17	17q23-q24	5573	"T, Mis, N, F, S"	"protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"			"E, M"	RET	"myxoma, endocrine, papillary thyroid"	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(478-480)Gca>Aca		protein kinase, cAMP-dependent, regulatory, type I, alpha							142	137	139					17																	66520194		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66520194G>A		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"Carney complex type 1"	188830	"tissue specific extinguisher 1"	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.478G>A	17.37:g.66520194G>A	ENSP00000464977:p.Ala160Thr					PRKAR1A_ENST00000536854.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.A160T|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.A160T|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.A160T	p.A160T	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			5	606	+	Breast(10;1.64e-13)		160					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.478G>A	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619415	0.66787	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.93604	-3.25;-3.25;-3.25	6.08	6.08	0.98989	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.093232	0.64402	D	0.000001	D	0.93442	0.7908	M	0.69823	2.125	0.80722	D	1	P;P	0.36647	0.563;0.563	B;B	0.38296	0.27;0.27	D	0.91781	0.5435	10	0.37606	T	0.19	-26.6197	20.2751	0.98485	0.0:0.0:1.0:0.0	.	160;160	B2R5T5;P10644	.;KAP0_HUMAN	T	160	ENSP00000351410:A160T;ENSP00000376475:A160T;ENSP00000445625:A160T	ENSP00000351410:A160T	A	+	1	0	PRKAR1A	64031789	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	9.869000	0.99810	2.890000	0.99128	0.655000	0.94253	GCA		0.418	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			81	488	0	0	0	1	0	81	488					A	66520194	G	A	66520194	3	1	79	1	0	0	0	0	1	0	0	0	12550	1087	38	1	492	1	PRKAR1A	17	66520194	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95146	66520194	14675016	17630	27947											
FAM20A	54757	broad.mit.edu	37	chr17	66533665	66533665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctggggccaactgttccaCtgggccgtcgactatgacac	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66533665C>A	ENST00000592554.1	-	11	2301	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	527					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AACTGTTCCACTGGGCCGTCG	0.572																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(1579-1581)Gtg>Ttg		family with sequence similarity 20, member A							68	55	59					17																	66533665		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66533665C>A	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1579G>T	17.37:g.66533665C>A	ENSP00000468308:p.Val527Leu					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.V527L	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			11	2301	-	Breast(10;1.64e-13)		527					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1579G>T	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377848	0.24944	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.51	1.0	0.19881	.	1.436550	0.03551	N	0.225445	T	0.26991	0.0661	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15521	-1.0434	9	0.28530	T	0.3	3.9634	3.8588	0.08986	0.1154:0.524:0.1039:0.2567	.	527;382	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	L	527;131	.	ENSP00000226094:V527L	V	-	1	0	FAM20A	64045260	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-1.052000	0.03503	0.687000	0.31509	0.484000	0.47621	GTG		0.572	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		32	71	1	0	2.61193e-14	1	2.83483e-14	32	71					A	66533665	C	A	66533665	3	1	79	1	0	0	0	0	1	0	0	0	5558	565	20	3	50	3	FAM20A	17	66533665	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13471	66533665	14661545	17631	27948											
FAM20A	54757	broad.mit.edu	37	chr17	66535523	66535523	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggatggagatttcatcatggGagtgtcgtccgaacctagga	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66535523G>T	ENST00000592554.1	-	10	2038	c.1316C>A	c.(1315-1317)tCc>tAc	p.S439Y	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	439					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TTCATCATGGGAGTGTCGTCC	0.517																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(1315-1317)tCc>tAc		family with sequence similarity 20, member A							147	130	136					17																	66535523		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66535523G>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1316C>A	17.37:g.66535523G>T	ENSP00000468308:p.Ser439Tyr					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.S439Y	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			10	2038	-	Breast(10;1.64e-13)		439					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.1316C>A	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318924	0.81469	.	.	ENSG00000108950	ENST00000226094;ENST00000375556	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76772	0.4034	M	0.78916	2.43	0.80722	D	1	D;D	0.64830	0.994;0.957	D;P	0.66847	0.947;0.844	T	0.70901	-0.4746	9	0.02654	T	1	-42.1522	20.3437	0.98782	0.0:0.0:1.0:0.0	.	439;301	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	Y	439;43	.	ENSP00000226094:S439Y	S	-	2	0	FAM20A	64047118	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.394000	0.73223	2.815000	0.96918	0.561000	0.74099	TCC		0.517	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		41	265	1	0	1.76056e-25	1	2.02043e-25	41	265					T	66535523	G	T	66535523	3	4	79	1	0	0	0	0	1	0	0	0	5558	1174	41	3	317	3	FAM20A	17	66535523	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1858	66535523	14659687	17632	27949											
FAM20A	54757	broad.mit.edu	37	chr17	66538300	66538300	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acttggcgaagaagcacacgTtgctcgctggaggatgggga	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66538300T>C	ENST00000592554.1	-	7	1657	c.935A>G	c.(934-936)aAc>aGc	p.N312S	PRKAR1A_ENST00000588188.2_Intron|AC079210.1_ENST00000600820.1_5'Flank|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	312					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAAGCACACGTTGCTCGCTGG	0.577																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(934-936)aAc>aGc		family with sequence similarity 20, member A							89	72	78					17																	66538300		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66538300T>C	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.935A>G	17.37:g.66538300T>C	ENSP00000468308:p.Asn312Ser					FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	p.N312S	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			7	1657	-	Breast(10;1.64e-13)		312					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.935A>G	CCDS11679.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727269	0.89390	.	.	ENSG00000108950	ENST00000226094	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86128	0.1573	9	0.66056	D	0.02	-46.305	16.5885	0.84745	0.0:0.0:0.0:1.0	.	312	Q96MK3	FA20A_HUMAN	S	312	.	ENSP00000226094:N312S	N	-	2	0	FAM20A	64049895	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.698000	0.84413	2.317000	0.78254	0.460000	0.39030	AAC		0.577	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		31	158	0	0	0	1	0	31	158					C	66538300	T	C	66538300	3	2	79	1	0	0	0	0	1	0	0	0	5558	1725	60	4	710	4	FAM20A	17	66538300	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2777	66538300	14656910	17633	27950											
FAM20A	54757	broad.mit.edu	37	chr17	66596565	66596565	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctgtggctgccgccAgccggttcagtccggggctc	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66596565A>G	ENST00000592554.1	-	1	965	c.243T>C	c.(241-243)gcT>gcC	p.A81A		NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	81					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGCTGCCGCCAGCCGGTTCAG	0.711																																						ENST00000592554.1																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(241-243)gcT>gcC		family with sequence similarity 20, member A							12	16	14					17																	66596565		2162	4240	6402	SO:0001819	synonymous_variant	54757					extracellular region		g.chr17:66596565A>G	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.243T>C	17.37:g.66596565A>G							p.A81A	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN			1	965	-	Breast(10;1.64e-13)		81					B2RN47|B2RN49|Q9UF95	Silent	SNP	ENST00000592554.1	37	c.243T>C	CCDS11679.1																																																																																				0.711	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565		15	115	0	0	0	1	0	15	115					G	66596565	A	G	66596565	2	3	79	1	0	0	0	0	0	0	0	1	5558	175	7	4		4	FAM20A	17	66596565	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58265	66596565	14598645	17634	27951											
ABCA8	10351	broad.mit.edu	37	chr17	66864494	66864494	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctctaggtcaaagctctgtTtaactgcatagggatgaaca	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66864494T>G	ENST00000269080.2	-	37	4732	c.4595A>C	c.(4594-4596)aAa>aCa	p.K1532T	ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T|ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1532					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)					AAAGCTCTGTTTAACTGCATA	0.348																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4594-4596)aAa>aCa		ATP-binding cassette, sub-family A (ABC1), member 8							101	96	97					17																	66864494		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66864494T>G	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.4595A>C	17.37:g.66864494T>G	ENSP00000269080:p.Lys1532Thr					ABCA8_ENST00000430352.2_Missense_Mutation_p.K1572T|ABCA8_ENST00000586539.1_Missense_Mutation_p.K1572T	p.K1532T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			37	4732	-	Breast(10;4.56e-13)		1532					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4595A>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250391	0.59212	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.81739	-1.53;-1.53	4.6	3.52	0.40303	.	0.000000	0.52532	D	0.000065	D	0.92031	0.7475	H	0.97440	4.005	0.40588	D	0.981466	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.91842	0.5484	10	0.87932	D	0	.	8.1627	0.31209	0.0:0.0918:0.0:0.9082	.	1572;1572;1532	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	T	1532;1572	ENSP00000269080:K1532T;ENSP00000402814:K1572T	ENSP00000269080:K1532T	K	-	2	0	ABCA8	64376089	1.000000	0.71417	0.986000	0.45419	0.598000	0.36846	5.297000	0.65704	0.900000	0.36469	0.533000	0.62120	AAA		0.348	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		53	218	0	0	0	1	0	53	218					G	66864494	T	G	66864494	3	3	79	1	0	0	0	0	1	0	0	0	38	1841	64	4	158	4	ABCA8	17	66864494	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	267929	66864494	14330716	17635	27952											
ABCA8	10351	broad.mit.edu	37	chr17	66891152	66891152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tataaagtcatcaatgcttgCccctaaggtgtagttaaaga	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66891152C>T	ENST00000269080.2	-	20	2784	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T	ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T|ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	883					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)					TCAATGCTTGCCCCTAAGGTG	0.353																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2647-2649)Gca>Aca		ATP-binding cassette, sub-family A (ABC1), member 8							132	112	119					17																	66891152		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66891152C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2647G>A	17.37:g.66891152C>T	ENSP00000269080:p.Ala883Thr					ABCA8_ENST00000430352.2_Missense_Mutation_p.A923T|ABCA8_ENST00000586539.1_Missense_Mutation_p.A923T	p.A883T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			20	2784	-	Breast(10;4.56e-13)		883					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2647G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521765	0.27211	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.85484	-1.99;-1.99	3.61	-1.24	0.09435	.	0.174631	0.27411	N	0.019481	T	0.77877	0.4196	M	0.68317	2.08	0.26827	N	0.968675	B;B;B;B;B	0.32731	0.167;0.201;0.382;0.088;0.201	B;B;B;B;B	0.36092	0.138;0.217;0.146;0.053;0.217	T	0.63554	-0.6611	10	0.25106	T	0.35	.	2.698	0.05140	0.3924:0.3702:0.0:0.2374	.	862;923;923;923;883	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	883;923;862	ENSP00000269080:A883T;ENSP00000402814:A923T	ENSP00000269080:A883T	A	-	1	0	ABCA8	64402747	0.000000	0.05858	0.934000	0.37439	0.475000	0.33008	-1.033000	0.03571	0.012000	0.14892	0.650000	0.86243	GCA		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		41	233	0	0	0	1	0	41	233					T	66891152	C	T	66891152	3	4	79	1	0	0	0	0	1	0	0	0	38	739	26	2	2174	2	ABCA8	17	66891152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26658	66891152	14304058	17636	27953											
ABCA8	10351	broad.mit.edu	37	chr17	66903959	66903959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggctgataatttggcatcagGgatgtgctgtttaacaagtg	13	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66903959G>T	ENST00000269080.2	-	16	2217	c.2080C>A	c.(2080-2082)Cct>Act	p.P694T	ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T|ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	694					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)					TTGGCATCAGGGATGTGCTGT	0.333																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2080-2082)Cct>Act		ATP-binding cassette, sub-family A (ABC1), member 8							175	164	168					17																	66903959		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66903959G>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2080C>A	17.37:g.66903959G>T	ENSP00000269080:p.Pro694Thr					ABCA8_ENST00000430352.2_Missense_Mutation_p.P734T|ABCA8_ENST00000586539.1_Missense_Mutation_p.P734T	p.P694T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			16	2217	-	Breast(10;4.56e-13)		694					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2080C>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052592	0.75960	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.68903	-0.36;-0.36	4.9	4.9	0.64082	.	0.000000	0.48286	D	0.000182	D	0.87939	0.6304	H	0.96777	3.88	0.58432	D	0.999999	D;D;P;D;D	0.71674	0.998;0.996;0.758;0.996;0.996	D;D;B;D;D	0.76071	0.987;0.931;0.354;0.969;0.931	D	0.92010	0.5617	10	0.87932	D	0	.	17.2378	0.87004	0.0:0.0:1.0:0.0	.	673;734;734;734;694	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	T	694;734;673	ENSP00000269080:P694T;ENSP00000402814:P734T	ENSP00000269080:P694T	P	-	1	0	ABCA8	64415554	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.464000	0.53057	2.544000	0.85801	0.655000	0.94253	CCT		0.333	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		37	126	1	0	1.36161e-19	1	1.52027e-19	37	126					T	66903959	G	T	66903959	3	4	79	1	0	0	0	0	1	0	0	0	38	1232	43	3	2757	3	ABCA8	17	66903959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12807	66903959	14291251	17637	27954											
ABCA8	10351	broad.mit.edu	37	chr17	66914273	66914273	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagaaggttccatacTtggtgtcttgaaaagggatc	10	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66914273T>C	ENST00000269080.2	-	14	1979	c.1842A>G	c.(1840-1842)caA>caG	p.Q614Q	ABCA8_ENST00000586539.1_Silent_p.Q654Q|ABCA8_ENST00000430352.2_Silent_p.Q654Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	614	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)					GGTTCCATACTTGGTGTCTTG	0.458																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1840-1842)caA>caG		ATP-binding cassette, sub-family A (ABC1), member 8							181	145	157					17																	66914273		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66914273T>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1842A>G	17.37:g.66914273T>C						ABCA8_ENST00000430352.2_Silent_p.Q654Q|ABCA8_ENST00000586539.1_Silent_p.Q654Q	p.Q614Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			14	1979	-	Breast(10;4.56e-13)		614			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.1842A>G	CCDS11680.1																																																																																				0.458	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		64	290	0	0	0	1	0	64	290					C	66914273	T	C	66914273	2	2	79	1	0	0	0	0	0	0	0	1	38	1606	56	4		4	ABCA8	17	66914273	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10314	66914273	14280937	17638	27955											
ABCA8	10351	broad.mit.edu	37	chr17	66925243	66925243	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagcaagcttaaaatccactCcaaggatgcaggaaggtgtc	10	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925243C>T	ENST00000269080.2	-	8	1209	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ABCA8_ENST00000586539.1_Missense_Mutation_p.E358K|ABCA8_ENST00000430352.2_Missense_Mutation_p.E358K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	358					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)					AAAATCCACTCCAAGGATGCA	0.478																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1072-1074)Gag>Aag		ATP-binding cassette, sub-family A (ABC1), member 8							96	78	84					17																	66925243		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925243C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1072G>A	17.37:g.66925243C>T	ENSP00000269080:p.Glu358Lys					ABCA8_ENST00000430352.2_Missense_Mutation_p.E358K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E358K	p.E358K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			8	1209	-	Breast(10;4.56e-13)		358					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1072G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962589	0.53400	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86164	-2.08;-2.08	4.67	4.67	0.58626	.	0.000000	0.51477	D	0.000085	T	0.82102	0.4964	M	0.67953	2.075	0.36977	D	0.894113	P;B;B;B;B	0.36125	0.538;0.048;0.001;0.009;0.048	B;B;B;B;B	0.33750	0.169;0.126;0.012;0.062;0.072	T	0.79997	-0.1567	10	0.02654	T	1	.	13.2739	0.60177	0.0:0.8394:0.1606:0.0	.	297;358;358;358;358	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	K	358;358;297	ENSP00000269080:E358K;ENSP00000402814:E358K	ENSP00000269080:E358K	E	-	1	0	ABCA8	64436838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.417000	0.44653	2.592000	0.87571	0.655000	0.94253	GAG		0.478	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		43	190	0	0	0	1	0	43	190					T	66925243	C	T	66925243	3	4	79	1	0	0	0	0	1	0	0	0	38	864	30	2	3797	2	ABCA8	17	66925243	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10970	66925243	14269967	17639	27956											
ABCA8	10351	broad.mit.edu	37	chr17	66925263	66925263	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaaggatgcaggaaggtgtCtgtacagtgatgtgaacccc	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925263C>A	ENST00000269080.2	-	8	1189	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I|ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	351					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)					AGGAAGGTGTCTGTACAGTGA	0.473																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1051-1053)aGa>aTa		ATP-binding cassette, sub-family A (ABC1), member 8							99	79	86					17																	66925263		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925263C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1052G>T	17.37:g.66925263C>A	ENSP00000269080:p.Arg351Ile					ABCA8_ENST00000430352.2_Missense_Mutation_p.R351I|ABCA8_ENST00000586539.1_Missense_Mutation_p.R351I	p.R351I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			8	1189	-	Breast(10;4.56e-13)		351					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1052G>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070010	0.55539	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.86865	-2.18;-2.18	4.67	3.7	0.42460	.	0.000000	0.56097	D	0.000028	D	0.89969	0.6869	M	0.81802	2.56	0.48341	D	0.999631	P;D;B;P;D	0.53151	0.948;0.958;0.229;0.896;0.958	P;P;B;P;P	0.58780	0.745;0.845;0.145;0.578;0.845	D	0.88299	0.2948	10	0.42905	T	0.14	.	5.3451	0.16004	0.0:0.753:0.0:0.247	.	290;351;351;351;351	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	351;351;290	ENSP00000269080:R351I;ENSP00000402814:R351I	ENSP00000269080:R351I	R	-	2	0	ABCA8	64436858	0.155000	0.22806	0.973000	0.42090	0.203000	0.24098	1.211000	0.32382	2.592000	0.87571	0.655000	0.94253	AGA		0.473	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		27	203	1	0	1.17739e-12	1	1.26592e-12	27	203					A	66925263	C	A	66925263	3	1	79	1	0	0	0	0	1	0	0	0	38	913	32	3	3817	3	ABCA8	17	66925263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	66925263	14269947	17640	27957											
ABCA8	10351	broad.mit.edu	37	chr17	66928609	66928609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatgcatcttcatattttttCcagtaactgacatcagctcc	4	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66928609C>T	ENST00000269080.2	-	6	754	c.617G>A	c.(616-618)gGa>gAa	p.G206E	ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E|ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	206					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)					CATATTTTTTCCAGTAACTGA	0.338																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(616-618)gGa>gAa		ATP-binding cassette, sub-family A (ABC1), member 8							103	99	100					17																	66928609		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928609C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.617G>A	17.37:g.66928609C>T	ENSP00000269080:p.Gly206Glu					ABCA8_ENST00000430352.2_Missense_Mutation_p.G206E|ABCA8_ENST00000586539.1_Missense_Mutation_p.G206E	p.G206E	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			6	754	-	Breast(10;4.56e-13)		206					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.617G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390071	0.61956	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.86164	-2.08;-2.08	4.86	4.86	0.63082	.	0.000000	0.50627	D	0.000113	D	0.93041	0.7785	M	0.83603	2.65	0.45541	D	0.998499	D;D;D;D;D	0.89917	0.998;1.0;0.999;0.998;0.999	D;D;D;D;D	0.83275	0.991;0.996;0.991;0.978;0.987	D	0.92106	0.5692	10	0.38643	T	0.18	.	13.6644	0.62387	0.0:1.0:0.0:0.0	.	145;206;206;206;206	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	E	206;206;145;206	ENSP00000269080:G206E;ENSP00000402814:G206E	ENSP00000269080:G206E	G	-	2	0	ABCA8	64440204	0.972000	0.33761	0.965000	0.40720	0.557000	0.35523	2.978000	0.49305	2.686000	0.91538	0.563000	0.77884	GGA		0.338	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		34	399	0	0	0	1	0	34	399					T	66928609	C	T	66928609	3	4	79	1	0	0	0	0	1	0	0	0	38	855	30	2	4260	2	ABCA8	17	66928609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3346	66928609	14266601	17641	27958											
ABCA9	10350	broad.mit.edu	37	chr17	66978725	66978725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atctctaatttgaagaaagcCtgtgataaaggtcgcacatc	8	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66978725C>A	ENST00000340001.4	-	37	4909	c.4698G>T	c.(4696-4698)caG>caT	p.Q1566H	ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1566					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1566H(1)		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)					TGAAGAAAGCCTGTGATAAAG	0.418																																						ENST00000340001.4																			1	Substitution - Missense(1)	p.Q1566H(1)	endometrium(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4696-4698)caG>caT		ATP-binding cassette, sub-family A (ABC1), member 9							139	135	136					17																	66978725		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66978725C>A	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.4698G>T	17.37:g.66978725C>A	ENSP00000342216:p.Gln1566His					ABCA9_ENST00000453985.2_Missense_Mutation_p.Q1528H|ABCA9_ENST00000370732.2_3'UTR	p.Q1566H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			37	4909	-	Breast(10;1.47e-12)		1566					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4698G>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597965	0.46318	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.84442	-1.85	4.9	2.88	0.33553	.	0.774711	0.10960	N	0.615066	D	0.83110	0.5183	M	0.69248	2.105	0.80722	D	1	B	0.17667	0.023	B	0.23018	0.043	T	0.76564	-0.2913	10	0.52906	T	0.07	.	8.5998	0.33738	0.1522:0.7666:0.0:0.0811	.	1566	Q8IUA7	ABCA9_HUMAN	H	1566;1511	ENSP00000342216:Q1566H	ENSP00000342216:Q1566H	Q	-	3	2	ABCA9	64490320	0.015000	0.18098	0.981000	0.43875	0.996000	0.88848	-0.046000	0.11983	0.569000	0.29329	0.609000	0.83330	CAG		0.418	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		84	404	1	0	5.14759e-42	1	6.26155e-42	84	404					A	66978725	C	A	66978725	3	1	79	1	0	0	0	0	1	0	0	0	39	680	24	3	188	3	ABCA9	17	66978725	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50116	66978725	14216485	17642	27959											
ABCA9	10350	broad.mit.edu	37	chr17	66981212	66981212	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctttcgctttattccctcTgacaaggtcttcacgggagc	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66981212T>C	ENST00000340001.4	-	33	4477	c.4266A>G	c.(4264-4266)tcA>tcG	p.S1422S	ABCA9_ENST00000453985.2_Silent_p.S1384S|ABCA9_ENST00000370732.2_Silent_p.S1422S|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1422	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTATTCCCTCTGACAAGGTCT	0.537																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4264-4266)tcA>tcG		ATP-binding cassette, sub-family A (ABC1), member 9							128	112	117					17																	66981212		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66981212T>C	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.4266A>G	17.37:g.66981212T>C						ABCA9_ENST00000453985.2_Silent_p.S1384S|ABCA9_ENST00000370732.2_Silent_p.S1422S	p.S1422S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			33	4477	-	Breast(10;1.47e-12)		1422			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4266A>G	CCDS11681.1																																																																																				0.537	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		79	335	0	0	0	1	0	79	335					C	66981212	T	C	66981212	2	2	79	1	0	0	0	0	0	0	0	1	39	1567	55	4		4	ABCA9	17	66981212	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2487	66981212	14213998	17643	27960											
ABCA9	10350	broad.mit.edu	37	chr17	66987055	66987055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcctcctctccttcagGctcttctgggtttggaaaaa	7	12	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66987055G>A	ENST00000340001.4	-	29	3971	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1254					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)					TCTCCTTCAGGCTCTTCTGGG	0.388																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3760-3762)Cct>Tct		ATP-binding cassette, sub-family A (ABC1), member 9							173	147	156					17																	66987055		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66987055G>A	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.3760C>T	17.37:g.66987055G>A	ENSP00000342216:p.Pro1254Ser					ABCA9_ENST00000453985.2_Missense_Mutation_p.P1216S|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1254S	p.P1254S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			29	3971	-	Breast(10;1.47e-12)		1254					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3760C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139931	0.37728	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.88124	-2.19;-2.34	5.4	5.4	0.78164	.	0.000000	0.47093	D	0.000250	D	0.91164	0.7217	M	0.64170	1.965	0.20074	N	0.999939	D;P	0.60160	0.987;0.529	P;B	0.58660	0.843;0.285	D	0.85458	0.1165	10	0.51188	T	0.08	.	17.7247	0.88362	0.0:0.0:1.0:0.0	.	1254;1254	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	1254;1199;1254	ENSP00000342216:P1254S;ENSP00000359767:P1254S	ENSP00000342216:P1254S	P	-	1	0	ABCA9	64498650	0.390000	0.25213	0.465000	0.27155	0.137000	0.21094	1.762000	0.38451	2.541000	0.85698	0.655000	0.94253	CCT		0.388	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		58	271	0	0	0	1	0	58	271					A	66987055	G	A	66987055	3	1	79	1	0	0	0	0	1	0	0	0	39	1203	42	2	1158	2	ABCA9	17	66987055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5843	66987055	14208155	17644	27961											
ABCA9	10350	broad.mit.edu	37	chr17	66989177	66989177	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattagcagtgccaggtataCaatttcagattctgaagctc	8	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66989177C>T	ENST00000340001.4	-	27	3815	c.3604G>A	c.(3604-3606)Gta>Ata	p.V1202I	ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I|ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1202					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)					GCCAGGTATACAATTTCAGAT	0.343																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3604-3606)Gta>Ata		ATP-binding cassette, sub-family A (ABC1), member 9							105	104	104					17																	66989177		2202	4300	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66989177C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3604G>A	17.37:g.66989177C>T	ENSP00000342216:p.Val1202Ile					ABCA9_ENST00000453985.2_Missense_Mutation_p.V1164I|ABCA9_ENST00000370732.2_Missense_Mutation_p.V1202I	p.V1202I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			27	3815	-	Breast(10;1.47e-12)		1202					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3604G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460288	0.12342	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.86366	-2.11;-2.11	4.44	-1.35	0.09114	.	0.876717	0.09469	N	0.797878	T	0.71937	0.3399	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15870	0.008;0.014	T	0.54721	-0.8251	10	0.13853	T	0.58	.	4.1642	0.10298	0.156:0.2935:0.4568:0.0936	.	1202;1202	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1202;1147;1202	ENSP00000342216:V1202I;ENSP00000359767:V1202I	ENSP00000342216:V1202I	V	-	1	0	ABCA9	64500772	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.769000	0.04710	-0.039000	0.13602	0.491000	0.48974	GTA		0.343	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		42	205	0	0	0	1	0	42	205					T	66989177	C	T	66989177	3	4	79	1	0	0	0	0	1	0	0	0	39	478	17	2	1322	2	ABCA9	17	66989177	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2122	66989177	14206033	17645	27962											
ABCA9	10350	broad.mit.edu	37	chr17	67004260	67004260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgggctaaaaatataatcCattatttgcattagcaggag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67004260C>T	ENST00000340001.4	-	24	3475	c.3264G>A	c.(3262-3264)atG>atA	p.M1088I	ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1088					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)					AAATATAATCCATTATTTGCA	0.363																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3262-3264)atG>atA		ATP-binding cassette, sub-family A (ABC1), member 9							65	75	71					17																	67004260		2203	4299	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67004260C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3264G>A	17.37:g.67004260C>T	ENSP00000342216:p.Met1088Ile					ABCA9_ENST00000453985.2_Missense_Mutation_p.M1088I|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.M1088I	p.M1088I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			24	3475	-	Breast(10;1.47e-12)		1088					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3264G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	c	0.003	-2.516910	0.00151	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.84730	-1.89;-1.89	4.8	-0.6	0.11642	.	0.807251	0.10785	N	0.634426	T	0.67988	0.2952	L	0.28504	0.86	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.004;0.006	T	0.50242	-0.8851	10	0.07813	T	0.8	.	0.9723	0.01418	0.3544:0.323:0.1349:0.1877	.	1088;1088	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	I	1088;1071;1088;1083	ENSP00000342216:M1088I;ENSP00000359767:M1088I	ENSP00000342216:M1088I	M	-	3	0	ABCA9	64515855	0.001000	0.12720	0.452000	0.26994	0.001000	0.01503	0.311000	0.19380	0.158000	0.19367	-0.309000	0.09137	ATG		0.363	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		37	475	0	0	0	1	0	37	475					T	67004260	C	T	67004260	3	4	79	1	0	0	0	0	1	0	0	0	39	594	21	2	1674	2	ABCA9	17	67004260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15083	67004260	14190950	17646	27963											
ABCA9	10350	broad.mit.edu	37	chr17	67012395	67012395	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatataattatacttactTcaaaaaatgtgcttctgtca	5	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	ENST00000340001.4	-	22	3249	c.3038A>G	c.(3037-3039)gAa>gGa	p.E1013G	ABCA9_ENST00000453985.2_Splice_Site_p.E1013G|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Splice_Site_p.E1013G	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1013					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)					TATACTTACTTCAAAAAATGT	0.303																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.e22+1		ATP-binding cassette, sub-family A (ABC1), member 9							73	75	74					17																	67012395		2203	4300	6503	SO:0001630	splice_region_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67012395T>C	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.3039+1A>G	17.37:g.67012395T>C						ABCA9_ENST00000453985.2_Splice_Site_p.E1013_splice|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Splice_Site_p.E1013_splice	p.E1013_splice	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			22	3249	-	Breast(10;1.47e-12)		1013					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Splice_Site	SNP	ENST00000340001.4	37	c.3039_splice	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	T	2.146	-0.395629	0.04899	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.87729	-2.29;-2.29	5.1	1.41	0.22369	.	0.315900	0.21806	N	0.068845	T	0.79488	0.4454	L	0.55834	1.745	0.19575	N	0.999967	B;B	0.12013	0.004;0.005	B;B	0.15052	0.007;0.012	T	0.61860	-0.6976	10	0.22706	T	0.39	.	4.7522	0.13066	0.2888:0.0834:0.0:0.6278	.	1013;1013	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	G	1013;996;1013;1008	ENSP00000342216:E1013G;ENSP00000359767:E1013G	ENSP00000342216:E1013G	E	-	2	0	ABCA9	64523990	0.000000	0.05858	0.995000	0.50966	0.008000	0.06430	-0.336000	0.07863	0.274000	0.22072	-0.468000	0.05107	GAA		0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	Missense_Mutation	27	243	0	0	0	1	0	27	243					C	67012395	T	C	67012395	5	2	79	1	0	0	0	0	0	0	1	0	39	1797	62	4	1908	4	ABCA9	17	67012395	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8135	67012395	14182815	17647	27964											
ABCA9	10350	broad.mit.edu	37	chr17	67016648	67016648	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgtttcgtggaaggaAgacaaaacttgttccagctc	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67016648A>G	ENST00000340001.4	-	19	2692	c.2481T>C	c.(2479-2481)tcT>tcC	p.S827S	ABCA9_ENST00000453985.2_Silent_p.S827S|ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Silent_p.S827S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	827					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)					CGTGGAAGGAAGACAAAACTT	0.403																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2479-2481)tcT>tcC		ATP-binding cassette, sub-family A (ABC1), member 9							117	105	109					17																	67016648		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67016648A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2481T>C	17.37:g.67016648A>G						ABCA9_ENST00000453985.2_Silent_p.S827S|ABCA9_ENST00000370732.2_Silent_p.S827S	p.S827S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			19	2692	-	Breast(10;1.47e-12)		827					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.2481T>C	CCDS11681.1																																																																																				0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		13	508	0	0	0	1	0	13	508					G	67016648	A	G	67016648	2	3	79	1	0	0	0	0	0	0	0	1	39	59	3	4		4	ABCA9	17	67016648	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4253	67016648	14178562	17648	27965											
ABCA9	10350	broad.mit.edu	37	chr17	67020491	67020491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacacctttcattcagatgCaaactaacatttaaaaagaa	3	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67020491C>T	ENST00000340001.4	-	17	2356	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	ABCA9_ENST00000453985.2_Silent_p.L715L|ABCA9_ENST00000370732.2_Silent_p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	715	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATTCAGATGCAAACTAACAT	0.303																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2143-2145)ttG>ttA		ATP-binding cassette, sub-family A (ABC1), member 9							34	30	31					17																	67020491		2201	4295	6496	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67020491C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2145G>A	17.37:g.67020491C>T						ABCA9_ENST00000453985.2_Silent_p.L715L|ABCA9_ENST00000370732.2_Silent_p.L715L	p.L715L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			17	2356	-	Breast(10;1.47e-12)		715			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.2145G>A	CCDS11681.1																																																																																				0.303	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		13	83	0	0	0	1	0	13	83					T	67020491	C	T	67020491	2	4	79	1	0	0	0	0	0	0	0	1	39	709	25	2		2	ABCA9	17	67020491	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	67020491	14174719	17649	27966											
ABCA9	10350	broad.mit.edu	37	chr17	67022579	67022579	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagagcctgcacacttcaGcttcccattggatatgaaca	8	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67022579G>T	ENST00000340001.4	-	16	2291	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M|ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	694	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACACTTCAGCTTCCCATTG	0.393																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(2080-2082)Ctg>Atg		ATP-binding cassette, sub-family A (ABC1), member 9							230	220	224					17																	67022579		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67022579G>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2080C>A	17.37:g.67022579G>T	ENSP00000342216:p.Leu694Met					ABCA9_ENST00000453985.2_Missense_Mutation_p.L694M|ABCA9_ENST00000370732.2_Missense_Mutation_p.L694M	p.L694M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			16	2291	-	Breast(10;1.47e-12)		694			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.2080C>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007234	0.54361	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.94330	-3.4;-3.4	5.43	4.47	0.54385	ABC transporter-like (1);	0.000000	0.37857	N	0.001907	D	0.95456	0.8524	L	0.57536	1.79	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95684	0.8734	10	0.87932	D	0	.	13.0931	0.59176	0.0782:0.0:0.9218:0.0	.	694;694	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	694;677;694;689	ENSP00000342216:L694M;ENSP00000359767:L694M	ENSP00000342216:L694M	L	-	1	2	ABCA9	64534174	0.857000	0.29778	0.987000	0.45799	0.321000	0.28281	1.123000	0.31308	1.437000	0.47472	0.655000	0.94253	CTG		0.393	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		236	975	1	0	1.46484e-98	1	1.88337e-98	236	975					T	67022579	G	T	67022579	3	4	79	1	0	0	0	0	1	0	0	0	39	962	34	3	2890	3	ABCA9	17	67022579	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2088	67022579	14172631	17650	27967											
ABCA9	10350	broad.mit.edu	37	chr17	67029942	67029942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccaacatgaaaagagtagCtattatgaggtatggatttt	9	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67029942C>T	ENST00000340001.4	-	9	1412	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T|ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	401					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)					AAAAGAGTAGCTATTATGAGG	0.323																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(1201-1203)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 9							112	124	120					17																	67029942		2203	4298	6501	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67029942C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1201G>A	17.37:g.67029942C>T	ENSP00000342216:p.Ala401Thr					ABCA9_ENST00000453985.2_Missense_Mutation_p.A401T|ABCA9_ENST00000370732.2_Missense_Mutation_p.A401T	p.A401T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			9	1412	-	Breast(10;1.47e-12)		401					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1201G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899461	0.52227	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.86956	-2.19;-2.19	4.53	3.54	0.40534	.	0.000000	0.44688	D	0.000431	D	0.89364	0.6694	M	0.71036	2.16	0.09310	N	1	D;P	0.59767	0.986;0.56	P;P	0.61201	0.885;0.593	T	0.79711	-0.1689	10	0.33940	T	0.23	.	6.2299	0.20728	0.2849:0.6186:0.0:0.0965	.	401;401	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	401;384;401;396	ENSP00000342216:A401T;ENSP00000359767:A401T	ENSP00000342216:A401T	A	-	1	0	ABCA9	64541537	0.005000	0.15991	0.055000	0.19348	0.031000	0.12232	0.432000	0.21461	2.243000	0.73865	0.603000	0.83216	GCT		0.323	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		53	494	0	0	0	1	0	53	494					T	67029942	C	T	67029942	3	4	79	1	0	0	0	0	1	0	0	0	39	797	28	2	3797	2	ABCA9	17	67029942	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7363	67029942	14165268	17651	27968											
ABCA6	23460	broad.mit.edu	37	chr17	67106975	67106975	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctttccagtggcaaagTatatacaagcttttctttgt	7	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67106975T>C	ENST00000284425.2	-	17	2413	c.2239A>G	c.(2239-2241)Act>Gct	p.T747A		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	747					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)					AGTGGCAAAGTATATACAAGC	0.294																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(2239-2241)Act>Gct		ATP-binding cassette, sub-family A (ABC1), member 6							87	85	85					17																	67106975		2202	4300	6502	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67106975T>C	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2239A>G	17.37:g.67106975T>C	ENSP00000284425:p.Thr747Ala						p.T747A	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			17	2413	-	Breast(10;5.65e-12)		747					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2239A>G	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	12.39	1.924235	0.34002	.	.	ENSG00000154262	ENST00000284425	T	0.62639	0.01	4.96	4.96	0.65561	.	0.257291	0.26828	N	0.022288	T	0.58977	0.2160	M	0.68317	2.08	0.80722	D	1	B	0.21225	0.053	B	0.25291	0.059	T	0.57069	-0.7874	10	0.33940	T	0.23	.	10.1012	0.42507	0.0:0.0817:0.0:0.9183	.	747	Q8N139	ABCA6_HUMAN	A	747	ENSP00000284425:T747A	ENSP00000284425:T747A	T	-	1	0	ABCA6	64618570	0.000000	0.05858	0.997000	0.53966	0.666000	0.39218	0.058000	0.14301	2.071000	0.62044	0.455000	0.32223	ACT		0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		5	132	0	0	0	1	0	5	132					C	67106975	T	C	67106975	3	2	79	1	0	0	0	0	1	0	0	0	36	1638	57	4	2706	4	ABCA6	17	67106975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	77033	67106975	14088235	17652	27969											
ABCA6	23460	broad.mit.edu	37	chr17	67109448	67109448	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctcaggaggctccacacTtgatctctggaaaagggatc	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67109448T>G	ENST00000284425.2	-	15	2130	c.1956A>C	c.(1954-1956)caA>caC	p.Q652H		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	652	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGCTCCACACTTGATCTCTGG	0.413																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1954-1956)caA>caC		ATP-binding cassette, sub-family A (ABC1), member 6							81	76	77					17																	67109448		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67109448T>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1956A>C	17.37:g.67109448T>G	ENSP00000284425:p.Gln652His						p.Q652H	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			15	2130	-	Breast(10;5.65e-12)		652			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1956A>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	T	4.388	0.071542	0.08436	.	.	ENSG00000154262	ENST00000284425	D	0.93763	-3.28	4.93	3.85	0.44370	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.061280	0.07388	N	0.888512	D	0.87977	0.6314	L	0.31804	0.96	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.77464	-0.2578	10	0.27082	T	0.32	.	6.0	0.19515	0.0:0.0892:0.2722:0.6386	.	652	Q8N139	ABCA6_HUMAN	H	652	ENSP00000284425:Q652H	ENSP00000284425:Q652H	Q	-	3	2	ABCA6	64621043	0.001000	0.12720	0.024000	0.17045	0.088000	0.18126	-0.164000	0.09983	1.015000	0.39444	0.523000	0.50628	CAA		0.413	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		49	185	0	0	0	1	0	49	185					G	67109448	T	G	67109448	3	3	79	1	0	0	0	0	1	0	0	0	36	1606	56	4	2997	4	ABCA6	17	67109448	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2473	67109448	14085762	17653	27970											
ABCA6	23460	broad.mit.edu	37	chr17	67111029	67111029	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagttatctttctgatttcCtccaagtcttgcatttcaga	5	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67111029C>A	ENST00000284425.2	-	13	1830	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	552	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGATTTCCTCCAAGTCTT	0.328																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1654-1656)gaG>gaT		ATP-binding cassette, sub-family A (ABC1), member 6							94	88	90					17																	67111029		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67111029C>A	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.1656G>T	17.37:g.67111029C>A	ENSP00000284425:p.Glu552Asp						p.E552D	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			13	1830	-	Breast(10;5.65e-12)		552			ABC transporter 1.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1656G>T	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569986	0.45798	.	.	ENSG00000154262	ENST00000284425	D	0.94537	-3.45	4.87	3.9	0.45041	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.229900	0.30051	N	0.010528	D	0.86003	0.5829	N	0.04746	-0.17	0.80722	D	1	B	0.24132	0.098	B	0.35688	0.208	T	0.79208	-0.1898	10	0.29301	T	0.29	.	5.1731	0.15120	0.0:0.7539:0.0:0.2461	.	552	Q8N139	ABCA6_HUMAN	D	552	ENSP00000284425:E552D	ENSP00000284425:E552D	E	-	3	2	ABCA6	64622624	0.001000	0.12720	1.000000	0.80357	0.991000	0.79684	-0.638000	0.05452	2.686000	0.91538	0.650000	0.86243	GAG		0.328	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		18	355	1	0	3.32936e-07	1	3.45006e-07	18	355					A	67111029	C	A	67111029	3	1	79	1	0	0	0	0	1	0	0	0	36	680	24	3	3305	3	ABCA6	17	67111029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1581	67111029	14084181	17654	27971											
ABCA6	23460	broad.mit.edu	37	chr17	67119474	67119474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttctcaataaccttagCattagtcctttggtgttgga	7	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67119474C>T	ENST00000284425.2	-	10	1516	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	448					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)					ATAACCTTAGCATTAGTCCTT	0.373																																						ENST00000284425.2																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1342-1344)Gct>Act		ATP-binding cassette, sub-family A (ABC1), member 6							112	108	109					17																	67119474		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67119474C>T	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.1342G>A	17.37:g.67119474C>T	ENSP00000284425:p.Ala448Thr						p.A448T	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN			10	1516	-	Breast(10;5.65e-12)		448					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.1342G>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285178	0.05605	.	.	ENSG00000154262	ENST00000284425	D	0.86562	-2.14	4.12	-2.43	0.06522	.	1.589470	0.03812	N	0.266052	T	0.71995	0.3406	N	0.16903	0.455	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56068	-0.8040	10	0.15499	T	0.54	.	1.2143	0.01911	0.1465:0.263:0.1367:0.4539	.	448	Q8N139	ABCA6_HUMAN	T	448	ENSP00000284425:A448T	ENSP00000284425:A448T	A	-	1	0	ABCA6	64631069	0.000000	0.05858	0.000000	0.03702	0.270000	0.26580	-0.144000	0.10280	-0.513000	0.06496	-0.264000	0.10439	GCT		0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		45	207	0	0	0	1	0	45	207					T	67119474	C	T	67119474	3	4	79	1	0	0	0	0	1	0	0	0	36	710	25	2	3631	2	ABCA6	17	67119474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8445	67119474	14075736	17655	27972											
ABCA10	10349	broad.mit.edu	37	chr17	67215738	67215738	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcagtttcttaaattttcCtctttcccttgcaacattta	2	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67215738C>A	ENST00000269081.4	-	7	1387	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	160					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)					TTAAATTTTCCTCTTTCCCTT	0.318																																						ENST00000269081.4																			0				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						c.(478-480)Gga>Tga		ATP-binding cassette, sub-family A (ABC1), member 10							59	65	63					17																	67215738		2203	4298	6501	SO:0001587	stop_gained	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67215738C>A	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.478G>T	17.37:g.67215738C>A	ENSP00000269081:p.Gly160*					ABCA10_ENST00000416101.2_Nonsense_Mutation_p.G160*|ABCA10_ENST00000432313.2_Nonsense_Mutation_p.G160*	p.G160*	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			7	1387	-	Breast(10;6.95e-12)		160					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Nonsense_Mutation	SNP	ENST00000269081.4	37	c.478G>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	37	6.326935	0.97476	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.73	0.093	0.14474	.	0.456322	0.15526	U	0.257796	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.9642	0.09424	0.0:0.2211:0.371:0.408	.	.	.	.	X	160	.	ENSP00000269081:G160X	G	-	1	0	ABCA10	64727333	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-0.211000	0.10124	-1.328000	0.01277	GGA		0.318	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		71	265	1	0	9.4991e-31	1	1.11549e-30	71	265					A	67215738	C	A	67215738	4	1	79	1	0	0	0	0	0	1	0	0	29	690	24	3	4289	3	ABCA10	17	67215738	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96264	67215738	13979472	17656	27973											
ABCA5	23461	broad.mit.edu	37	chr17	67266820	67266820	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatgataaagatagtagttActaatgatattcactaatat	5	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67266820A>G	ENST00000392676.3	-	22	3028	c.2964T>C	c.(2962-2964)agT>agC	p.S988S	ABCA5_ENST00000588877.1_Silent_p.S988S|ABCA5_ENST00000392677.2_Silent_p.S989S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	988					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)	GATAGTAGTTACTAATGATAT	0.294																																						ENST00000392676.3																			0				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						c.(2962-2964)agT>agC		ATP-binding cassette, sub-family A (ABC1), member 5							92	104	100					17																	67266820		2201	4268	6469	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67266820A>G	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.2964T>C	17.37:g.67266820A>G						ABCA5_ENST00000392677.2_Silent_p.S989S|ABCA5_ENST00000588877.1_Silent_p.S988S	p.S988S			Q8WWZ7	ABCA5_HUMAN			22	3028	-	Breast(10;3.72e-11)		988					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.2964T>C	CCDS11685.1																																																																																				0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		120	489	0	0	0	1	0	120	489					G	67266820	A	G	67266820	2	3	79	1	0	0	0	0	0	0	0	1	35	388	14	4		4	ABCA5	17	67266820	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51082	67266820	13928390	17657	27974											
ABCA5	23461	broad.mit.edu	37	chr17	67273834	67273834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtaaagaaatgaaactttgCtattgtatacatctgttgtt	8	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67273834C>A	ENST00000392676.3	-	19	2606	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S|ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	848					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)	TGAAACTTTGCTATTGTATAC	0.353																																						ENST00000392676.3																			0				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						c.(2542-2544)Gca>Tca		ATP-binding cassette, sub-family A (ABC1), member 5							82	74	77					17																	67273834		2202	4298	6500	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67273834C>A	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.2542G>T	17.37:g.67273834C>A	ENSP00000376443:p.Ala848Ser					ABCA5_ENST00000392677.2_Missense_Mutation_p.A848S|ABCA5_ENST00000588877.1_Missense_Mutation_p.A848S	p.A848S			Q8WWZ7	ABCA5_HUMAN			19	2606	-	Breast(10;3.72e-11)		848					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2542G>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316960	0.81469	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88046	-2.32;-2.33	5.73	4.74	0.60224	.	0.085848	0.49916	D	0.000123	D	0.88411	0.6429	M	0.84948	2.725	0.50632	D	0.99988	P;B	0.36162	0.54;0.405	B;B	0.37346	0.247;0.125	D	0.87949	0.2722	9	.	.	.	.	14.6363	0.68692	0.0:0.9248:0.0:0.0752	.	848;848	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	S	848	ENSP00000376444:A848S;ENSP00000376443:A848S	.	A	-	1	0	ABCA5	64785429	1.000000	0.71417	0.936000	0.37596	0.999000	0.98932	3.880000	0.56145	2.861000	0.98227	0.655000	0.94253	GCA		0.353	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		39	187	1	0	1.67305e-13	1	1.80725e-13	39	187					A	67273834	C	A	67273834	3	1	79	1	0	0	0	0	1	0	0	0	35	797	28	3	2470	3	ABCA5	17	67273834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7014	67273834	13921376	17658	27975											
ABCA5	23461	broad.mit.edu	37	chr17	67285372	67285372	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agctttcttttttgaccaccActtaattttttagcttggtt	5	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67285372A>C	ENST00000392676.3	-	14	1912	c.1848T>G	c.(1846-1848)agT>agG	p.S616R	ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R|ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	616	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTTGACCACCACTTAATTTTT	0.308																																						ENST00000392676.3																			0				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						c.(1846-1848)agT>agG		ATP-binding cassette, sub-family A (ABC1), member 5							97	95	96					17																	67285372		2203	4298	6501	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67285372A>C	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.1848T>G	17.37:g.67285372A>C	ENSP00000376443:p.Ser616Arg					ABCA5_ENST00000392677.2_Missense_Mutation_p.S616R|ABCA5_ENST00000588877.1_Missense_Mutation_p.S616R	p.S616R			Q8WWZ7	ABCA5_HUMAN			14	1912	-	Breast(10;3.72e-11)		616			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.1848T>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673074	0.67928	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.74002	-0.8;-0.8	5.19	2.89	0.33648	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000001	D	0.90202	0.6937	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79784	0.939;0.993	D	0.88819	0.3297	9	.	.	.	.	8.3706	0.32412	0.693:0.0:0.307:0.0	.	616;616	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	R	616	ENSP00000376444:S616R;ENSP00000376443:S616R	.	S	-	3	2	ABCA5	64796967	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.949000	0.29109	0.281000	0.22233	0.397000	0.26171	AGT		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		55	202	0	0	0	1	0	55	202					C	67285372	A	C	67285372	3	2	79	1	0	0	0	0	1	0	0	0	35	156	6	4	3184	4	ABCA5	17	67285372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11538	67285372	13909838	17659	27976											
ABCA5	23461	broad.mit.edu	37	chr17	67299047	67299047	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcattaaagcaaaaaataCctataaaatacaaatattaa	2	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67299047C>T	ENST00000392676.3	-	8	995	c.931G>A	c.(931-933)Gta>Ata	p.V311I	ABCA5_ENST00000588877.1_Splice_Site_p.V311I|ABCA5_ENST00000392677.2_Splice_Site_p.V311I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	311					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)	GCAAAAAATACCTATAAAATA	0.274																																						ENST00000392676.3																			0				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						c.e8-1		ATP-binding cassette, sub-family A (ABC1), member 5							16	16	16					17																	67299047		2180	4269	6449	SO:0001630	splice_region_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67299047C>T	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.931-1G>A	17.37:g.67299047C>T						ABCA5_ENST00000392677.2_Splice_Site_p.V311_splice|ABCA5_ENST00000588877.1_Splice_Site_p.V311_splice	p.V311_splice			Q8WWZ7	ABCA5_HUMAN			8	995	-	Breast(10;3.72e-11)		311					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Splice_Site	SNP	ENST00000392676.3	37	c.930_splice	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010767	0.07727	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.80738	-1.41;-1.41	5.08	2.02	0.26589	.	0.118422	0.37304	N	0.002146	T	0.65471	0.2694	N	0.25094	0.71	0.47737	D	0.999501	B;B	0.09022	0.0;0.002	B;B	0.18561	0.003;0.022	T	0.51694	-0.8673	9	.	.	.	.	10.4211	0.44350	0.0:0.7868:0.0:0.2132	.	311;311	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	311	ENSP00000376444:V311I;ENSP00000376443:V311I	.	V	-	1	0	ABCA5	64810642	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	3.100000	0.50275	0.259000	0.21709	0.655000	0.94253	GTA		0.274	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	Missense_Mutation	18	78	0	0	0	1	0	18	78					T	67299047	C	T	67299047	5	4	79	1	0	0	0	0	0	0	1	0	35	521	18	2	4125	2	ABCA5	17	67299047	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13675	67299047	13896163	17660	27977											
ABCA5	23461	broad.mit.edu	37	chr17	67309352	67309352	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccataggattgagttctataTtaggcacttcttcatatttc	6	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67309352T>G	ENST00000392676.3	-	3	252	c.188A>C	c.(187-189)aAt>aCt	p.N63T	ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T|ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	63					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)	GAGTTCTATATTAGGCACTTC	0.289																																						ENST00000392676.3																			0				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						c.(187-189)aAt>aCt		ATP-binding cassette, sub-family A (ABC1), member 5							83	87	86					17																	67309352		2202	4297	6499	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67309352T>G	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.188A>C	17.37:g.67309352T>G	ENSP00000376443:p.Asn63Thr					ABCA5_ENST00000392677.2_Missense_Mutation_p.N63T|ABCA5_ENST00000588877.1_Missense_Mutation_p.N63T	p.N63T			Q8WWZ7	ABCA5_HUMAN			3	252	-	Breast(10;3.72e-11)		63					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.188A>C	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	0.302	-0.973050	0.02215	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87571	-2.27;-2.27	5.0	5.0	0.66597	.	0.185380	0.37715	N	0.001965	T	0.74253	0.3692	N	0.08118	0	0.27216	N	0.959792	B;B	0.02656	0.0;0.0	B;B	0.10450	0.003;0.005	T	0.58999	-0.7536	9	.	.	.	.	14.367	0.66812	0.0:0.0:0.0:1.0	.	63;63	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	T	63	ENSP00000376444:N63T;ENSP00000376443:N63T	.	N	-	2	0	ABCA5	64820947	0.995000	0.38212	0.826000	0.32828	0.580000	0.36256	3.619000	0.54196	1.879000	0.54435	0.477000	0.44152	AAT		0.289	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		48	166	0	0	0	1	0	48	166					G	67309352	T	G	67309352	3	3	79	1	0	0	0	0	1	0	0	0	35	1493	52	4	4888	4	ABCA5	17	67309352	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10305	67309352	13885858	17661	27978											
MAP2K6	5608	broad.mit.edu	37	chr17	67513640	67513640	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattccttttctctcttgcaGaactttgaggtgaaggcaga	9	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67513640G>A	ENST00000590474.1	+	4	419		c.e4-1		MAP2K6_ENST00000589647.1_Splice_Site	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6						activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTCTCTTGCAGAACTTTGAGG	0.473																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.e4-1		mitogen-activated protein kinase kinase 6							75	63	67					17																	67513640		2203	4300	6503	SO:0001630	splice_region_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67513640G>A	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.133-1G>A	17.37:g.67513640G>A						MAP2K6_ENST00000589647.1_Splice_Site		NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			4	419	+	Breast(10;6.05e-10)								Splice_Site	SNP	ENST00000590474.1	37		CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520818	0.85495	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8901	0.88869	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K6	65025235	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.715000	0.98748	2.634000	0.89283	0.585000	0.79938	.		0.473	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758	Intron	24	128	0	0	0	1	0	24	128					A	67513640	G	A	67513640	5	1	79	1	0	0	0	0	0	0	1	0	9282	956	33	2	146	2	MAP2K6	17	67513640	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	204288	67513640	13681570	17662	27979											
MAP2K6	5608	broad.mit.edu	37	chr17	67522730	67522730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gattgagttggccatccttcGatttccctatgattcatggg	10	9	1	2	rs146595343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67522730G>A	ENST00000590474.1	+	10	1048	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	254	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R254L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCATCCTTCGATTTCCCTAT	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18748	0.0		0.0	False		,,,				2504	0.0					ENST00000590474.1																			1	Substitution - Missense(1)	p.R254L(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(760-762)cGa>cAa		mitogen-activated protein kinase kinase 6		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	100	101	100		761	6.2	1	17	dbSNP_134	100	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MAP2K6	NM_002758.3	43	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	benign	254/335	67522730	6,13000	2203	4300	6503	SO:0001583	missense	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67522730G>A	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.761G>A	17.37:g.67522730G>A	ENSP00000468348:p.Arg254Gln					MAP2K6_ENST00000589647.1_Missense_Mutation_p.R198Q	p.R254Q	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			10	1048	+	Breast(10;6.05e-10)		254			Protein kinase.			Missense_Mutation	SNP	ENST00000590474.1	37	c.761G>A	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453096	0.63290	4.54E-4	4.65E-4	ENSG00000108984	ENST00000359094	.	.	.	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);	0.061266	0.64402	D	0.000007	T	0.44623	0.1302	N	0.13168	0.305	0.49483	D	0.999798	P	0.43826	0.818	P	0.45310	0.476	T	0.22626	-1.0211	8	.	.	.	-17.1079	19.4236	0.94732	0.0:0.0:1.0:0.0	.	254	P52564	MP2K6_HUMAN	Q	254	.	.	R	+	2	0	MAP2K6	65034325	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.365000	0.52335	2.937000	0.99478	0.650000	0.86243	CGA		0.463	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		86	372	0	0	0	1	0	86	372					A	67522730	G	A	67522730	3	1	79	1	0	0	0	0	1	0	0	0	9282	1058	37	1	799	1	MAP2K6	17	67522730	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9090	67522730	13672480	17663	27980											
KCNJ16	3773	broad.mit.edu	37	chr17	68128301	68128301	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caggctacccgccagagcacAttatagctgagaagagaaga	11	10	0	4	rs199635549	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128301A>G	ENST00000589377.1	+	2	236	c.73A>G	c.(73-75)Att>Gtt	p.I25V	KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000585558.1_Missense_Mutation_p.I60V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	25					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)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCCAGAGCACATTATAGCTGA	0.453													A|||	2	0.000399361	0.0	0.0	5008	,	,		19982	0.002		0.0	False		,,,				2504	0.0					ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(178-180)Att>Gtt		potassium inwardly-rectifying channel, subfamily J, member 16							131	123	125					17																	68128301		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128301A>G	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.73A>G	17.37:g.68128301A>G	ENSP00000465967:p.Ile25Val					KCNJ16_ENST00000283936.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000589377.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392671.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000392670.1_Missense_Mutation_p.I25V|KCNJ16_ENST00000586462.1_Missense_Mutation_p.I64V	p.I60V			Q9NPI9	IRK16_HUMAN			4	566	+	Breast(10;2.96e-09)		25						Missense_Mutation	SNP	ENST00000589377.1	37	c.178A>G	CCDS11687.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	1.321	-0.599456	0.03744	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.88124	-2.34;-2.34;-2.34	5.99	-8.19	0.01049	.	1.981030	0.01750	N	0.029873	T	0.70815	0.3267	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	0.62793	-0.6779	9	.	.	.	.	9.4275	0.38590	0.2183:0.0992:0.5854:0.0971	.	25;25	A8K434;Q9NPI9	.;IRK16_HUMAN	V	25	ENSP00000283936:I25V;ENSP00000376439:I25V;ENSP00000376438:I25V	.	I	+	1	0	KCNJ16	65639896	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.346000	0.07760	-1.825000	0.01207	-0.248000	0.11899	ATT		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		114	387	0	0	0	1	0	114	387					G	68128301	A	G	68128301	3	3	79	1	0	0	0	0	1	0	0	0	8080	217	8	4	75	4	KCNJ16	17	68128301	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	605571	68128301	13066909	17664	27981											
KCNJ16	3773	broad.mit.edu	37	chr17	68128331	68128331	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagaagagcaagaagaCgattacttcacaaagatggc	11	6	1	6	rs375990976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128331C>T	ENST00000589377.1	+	2	266	c.103C>T	c.(103-105)Cga>Tga	p.R35*	KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000585558.1_Nonsense_Mutation_p.R70*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	35					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)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGCAAGAAGACGATTACTTCA	0.453																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(208-210)Cga>Tga		potassium inwardly-rectifying channel, subfamily J, member 16		C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	190	174	180		103,103,103	4	0.1	17		180	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	35/419,35/419,35/419	68128331	1,13005	2203	4300	6503	SO:0001587	stop_gained	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128331C>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.103C>T	17.37:g.68128331C>T	ENSP00000465967:p.Arg35*					KCNJ16_ENST00000283936.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000589377.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392671.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000392670.1_Nonsense_Mutation_p.R35*|KCNJ16_ENST00000586462.1_Nonsense_Mutation_p.R74*	p.R70*			Q9NPI9	IRK16_HUMAN			4	596	+	Breast(10;2.96e-09)		35						Nonsense_Mutation	SNP	ENST00000589377.1	37	c.208C>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347020	0.95807	0.0	1.16E-4	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	.	.	.	5.99	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2882	0.73846	0.2567:0.7432:0.0:0.0	.	.	.	.	X	35	.	.	R	+	1	2	KCNJ16	65639926	0.638000	0.27225	0.057000	0.19452	0.005000	0.04900	1.272000	0.33109	0.847000	0.35167	-0.127000	0.14921	CGA		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		42	563	0	0	0	1	0	42	563					T	68128331	C	T	68128331	4	4	79	1	0	0	0	0	0	1	0	0	8080	528	19	1	105	1	KCNJ16	17	68128331	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	68128331	13066879	17665	27982											
KCNJ2	3759	broad.mit.edu	37	chr17	68171388	68171388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggggcaacggtacctcGcagacatcttcaccacgtgt	11	12	2	2	rs375605948		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68171388G>A	ENST00000243457.3	+	2	591	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	70					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)			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)					ACGGTACCTCGCAGACATCTT	0.522																																						ENST00000243457.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25						c.(208-210)Gca>Aca		potassium inwardly-rectifying channel, subfamily J, member 2							216	156	176					17																	68171388		2203	4300	6503	SO:0001583	missense	3759				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	g.chr17:68171388G>A	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.208G>A	17.37:g.68171388G>A	ENSP00000243457:p.Ala70Thr					KCNJ2_ENST00000535240.1_Missense_Mutation_p.A70T	p.A70T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN			2	591	+	Breast(10;1.64e-08)		70					O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	c.208G>A	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004413	0.19199	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.93953	-3.32;-3.32	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.048397	0.85682	D	0.000000	D	0.88934	0.6572	L	0.35487	1.065	0.53005	D	0.999968	B	0.25743	0.133	B	0.26416	0.069	D	0.84807	0.0788	9	.	.	.	.	14.5682	0.68194	0.0:0.0:0.8539:0.1461	.	70	P63252	IRK2_HUMAN	T	70	ENSP00000441848:A70T;ENSP00000243457:A70T	.	A	+	1	0	KCNJ2	65682983	1.000000	0.71417	0.944000	0.38274	0.766000	0.43426	7.871000	0.87180	2.662000	0.90505	0.555000	0.69702	GCA		0.522	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		86	375	0	0	0	1	0	86	375					A	68171388	G	A	68171388	3	1	79	1	0	0	0	0	1	0	0	0	8081	1087	38	1	210	1	KCNJ2	17	68171388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43057	68171388	13023822	17666	27983											
COG1	9382	broad.mit.edu	37	chr17	71196797	71196797	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatccgggacgccatgtgggAgttacttaccaatgagtcca	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71196797A>T	ENST00000299886.4	+	6	1243	c.1163A>T	c.(1162-1164)gAg>gTg	p.E388V		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	388					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)			GCCATGTGGGAGTTACTTACC	0.507																																						ENST00000299886.4																			0				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						c.(1162-1164)gAg>gTg		component of oligomeric golgi complex 1							111	103	106					17																	71196797		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71196797A>T		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.1163A>T	17.37:g.71196797A>T	ENSP00000299886:p.Glu388Val						p.E388V	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		6	1243	+			388					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1163A>T	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	A	12.54	1.969484	0.34754	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.25749	1.78;1.78	5.53	3.26	0.37387	.	0.454480	0.26424	N	0.024450	T	0.31040	0.0784	M	0.65975	2.015	0.52501	D	0.999954	P;P;P	0.49253	0.921;0.756;0.921	P;B;P	0.47744	0.556;0.372;0.556	T	0.02450	-1.1157	10	0.34782	T	0.22	-5.8888	8.2047	0.31446	0.7958:0.1345:0.0696:0.0	.	388;388;388	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	V	388	ENSP00000400111:E388V;ENSP00000299886:E388V	ENSP00000299886:E388V	E	+	2	0	COG1	68708392	1.000000	0.71417	0.446000	0.26920	0.759000	0.43091	4.832000	0.62759	0.369000	0.24510	0.460000	0.39030	GAG		0.507	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			111	372	0	0	0	1	0	111	372					T	71196797	A	T	71196797	3	4	79	1	0	0	0	0	1	0	0	0	3666	304	11	5	1185	5	COG1	17	71196797	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3025409	71196797	9998413	17667	27984											
COG1	9382	broad.mit.edu	37	chr17	71197321	71197321	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagctttgcaggaacTtgaaagcagcaccagcaact	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71197321T>G	ENST00000299886.4	+	7	1435	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	452					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)			TTGCAGGAACTTGAAAGCAGC	0.463																																						ENST00000299886.4																			0				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						c.(1354-1356)cTt>cGt		component of oligomeric golgi complex 1							119	115	117					17																	71197321		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197321T>G		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.1355T>G	17.37:g.71197321T>G	ENSP00000299886:p.Leu452Arg						p.L452R	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	1435	+			452					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1355T>G	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368777	0.24771	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.30182	1.54;1.54	5.28	4.17	0.49024	.	0.126983	0.53938	N	0.000047	T	0.52853	0.1760	M	0.77616	2.38	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.959;0.981;0.959	T	0.50931	-0.8769	10	0.29301	T	0.29	-13.324	12.3305	0.55038	0.0:0.0:0.1416:0.8584	.	452;452;452	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	R	452	ENSP00000400111:L452R;ENSP00000299886:L452R	ENSP00000299886:L452R	L	+	2	0	COG1	68708916	1.000000	0.71417	0.116000	0.21606	0.749000	0.42624	7.457000	0.80775	0.906000	0.36621	0.533000	0.62120	CTT		0.463	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			117	516	0	0	0	1	0	117	516					G	71197321	T	G	71197321	3	3	79	1	0	0	0	0	1	0	0	0	3666	1609	56	4	1381	4	COG1	17	71197321	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	524	71197321	9997889	17668	27985											
C17orf80	55028	broad.mit.edu	37	chr17	71232062	71232062	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacgcatcagagaaaacctcTcctaaaagagaacttgccaa	6	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232062T>C	ENST00000535032.2	+	2	554	c.441T>C	c.(439-441)tcT>tcC	p.S147S	C17orf80_ENST00000255557.4_Silent_p.S147S|C17orf80_ENST00000359042.2_Silent_p.S147S|C17orf80_ENST00000577615.1_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	147						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAAAACCTCTCCTAAAAGAG	0.388																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(439-441)tcT>tcC		chromosome 17 open reading frame 80							77	81	80					17																	71232062		2202	4299	6501	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71232062T>C	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.441T>C	17.37:g.71232062T>C						C17orf80_ENST00000535032.2_Silent_p.S147S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.S147S|C17orf80_ENST00000577615.1_Silent_p.S147S|C17orf80_ENST00000268942.8_Silent_p.S147S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Silent_p.S147S	p.S147S	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	635	+			147					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.441T>C	CCDS11694.1																																																																																				0.388	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		92	420	0	0	0	1	0	92	420					C	71232062	T	C	71232062	2	2	79	1	0	0	0	0	0	0	0	1	1891	1538	54	4		4	C17orf80	17	71232062	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34741	71232062	9963148	17669	27986											
C17orf80	55028	broad.mit.edu	37	chr17	71232128	71232128	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtaatccttcagaagcTggagcgtctttactggttgg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232128T>C	ENST00000535032.2	+	2	620	c.507T>C	c.(505-507)gcT>gcC	p.A169A	C17orf80_ENST00000255557.4_Silent_p.A169A|C17orf80_ENST00000359042.2_Silent_p.A169A|C17orf80_ENST00000577615.1_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	169						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTCAGAAGCTGGAGCGTCTT	0.403																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(505-507)gcT>gcC		chromosome 17 open reading frame 80							80	83	82					17																	71232128		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71232128T>C	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.507T>C	17.37:g.71232128T>C						C17orf80_ENST00000535032.2_Silent_p.A169A|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Silent_p.A169A|C17orf80_ENST00000577615.1_Silent_p.A169A|C17orf80_ENST00000268942.8_Silent_p.A169A|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Silent_p.A169A	p.A169A	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	701	+			169					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.507T>C	CCDS11694.1																																																																																				0.403	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		102	439	0	0	0	1	0	102	439					C	71232128	T	C	71232128	2	2	79	1	0	0	0	0	0	0	0	1	1891	1567	55	4		4	C17orf80	17	71232128	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	66	71232128	9963082	17670	27987											
C17orf80	55028	broad.mit.edu	37	chr17	71232555	71232555	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agacgtgtgggagcaaaggaAatgcagagaaaagtatgtct	14	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232555A>G	ENST00000535032.2	+	2	1047	c.934A>G	c.(934-936)Aat>Gat	p.N312D	C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D|C17orf80_ENST00000359042.2_Missense_Mutation_p.N312D|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	312						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCAAAGGAAATGCAGAGAA	0.443																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(934-936)Aat>Gat		chromosome 17 open reading frame 80							83	71	75					17																	71232555		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232555A>G	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.934A>G	17.37:g.71232555A>G	ENSP00000440551:p.Asn312Asp					C17orf80_ENST00000535032.2_Missense_Mutation_p.N312D|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.N312D|C17orf80_ENST00000577615.1_Missense_Mutation_p.N312D|C17orf80_ENST00000268942.8_Missense_Mutation_p.N312D|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.N312D	p.N312D	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1128	+			312					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.934A>G	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513546	0.85389	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;D;T;T;D	0.84070	2.56;-1.8;2.56;2.75;-1.8	5.28	-0.487	0.12060	.	0.649385	0.14750	N	0.300635	D	0.83050	0.5170	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.76494	0.986;0.976;0.986;0.999	P;P;P;D	0.64321	0.844;0.722;0.844;0.924	T	0.70193	-0.4939	10	0.18710	T	0.47	-8.5098	2.3039	0.04169	0.4772:0.2917:0.0892:0.1418	.	312;312;312;312	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	D	312	ENSP00000255557:N312D;ENSP00000351937:N312D;ENSP00000268942:N312D;ENSP00000396970:N312D;ENSP00000440551:N312D	ENSP00000255557:N312D	N	+	1	0	C17orf80	68744150	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	0.729000	0.26028	0.004000	0.14682	0.459000	0.35465	AAT		0.443	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		34	177	0	0	0	1	0	34	177					G	71232555	A	G	71232555	3	3	79	1	0	0	0	0	1	0	0	0	1891	14	1	4	936	4	C17orf80	17	71232555	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	427	71232555	9962655	17671	27988											
C17orf80	55028	broad.mit.edu	37	chr17	71233036	71233036	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagagctctatcctggttAccttggactaggggtgttgc	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71233036A>G	ENST00000535032.2	+	2	1528	c.1415A>G	c.(1414-1416)tAc>tGc	p.Y472C	C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C|C17orf80_ENST00000359042.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|FAM104A_ENST00000583178.1_5'Flank|C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	472						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TATCCTGGTTACCTTGGACTA	0.552																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(1414-1416)tAc>tGc		chromosome 17 open reading frame 80							47	50	49					17																	71233036		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71233036A>G	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.1415A>G	17.37:g.71233036A>G	ENSP00000440551:p.Tyr472Cys					C17orf80_ENST00000535032.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000426147.2_Missense_Mutation_p.Y472C|C17orf80_ENST00000577615.1_Missense_Mutation_p.Y472C|C17orf80_ENST00000268942.8_Missense_Mutation_p.Y472C|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.Y472C	p.Y472C	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	1609	+			472					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.1415A>G	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.913766	0.72983	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32	5.29	5.29	0.74685	.	0.000000	0.46758	D	0.000263	T	0.40909	0.1136	M	0.71581	2.175	0.40242	D	0.977972	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	0.37174	-0.9717	10	0.72032	D	0.01	-8.7091	13.2035	0.59782	1.0:0.0:0.0:0.0	.	472;472;472;472	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	C	472	ENSP00000255557:Y472C;ENSP00000351937:Y472C;ENSP00000268942:Y472C;ENSP00000396970:Y472C;ENSP00000440551:Y472C	ENSP00000255557:Y472C	Y	+	2	0	C17orf80	68744631	0.983000	0.35010	0.966000	0.40874	0.970000	0.65996	3.727000	0.54984	1.998000	0.58463	0.533000	0.62120	TAC		0.552	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		46	226	0	0	0	1	0	46	226					G	71233036	A	G	71233036	3	3	79	1	0	0	0	0	1	0	0	0	1891	391	14	4	1417	4	C17orf80	17	71233036	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	481	71233036	9962174	17672	27989											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282594	71282594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtccgctcgggaacggcGcttggagtgcaccgagctgg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71282594G>A	ENST00000335793.3	-	2	440	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	16					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)			CGGGAACGGCGCTTGGAGTGC	0.682																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(46-48)Cgc>Tgc		CDC42 effector protein (Rho GTPase binding) 4							25	27	26					17																	71282594		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71282594G>A	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.46C>T	17.37:g.71282594G>A	ENSP00000338258:p.Arg16Cys					CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R16C|CDC42EP4_ENST00000581014.1_Missense_Mutation_p.R16C	p.R16C			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	440	-			16					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.46C>T	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859681	0.91433	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.37584	1.19;1.34	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.54214	-0.8327	10	0.56958	D	0.05	-22.2573	13.1241	0.59344	0.0:0.0:0.8396:0.1603	.	16;16	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	C	16	ENSP00000338258:R16C;ENSP00000404270:R16C	ENSP00000338258:R16C	R	-	1	0	CDC42EP4	68794189	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.548000	0.60718	2.378000	0.81104	0.585000	0.79938	CGC		0.682	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		37	138	0	0	0	1	0	37	138					A	71282594	G	A	71282594	3	1	79	1	0	0	0	0	1	0	0	0	3087	1087	38	1	1028	1	CDC42EP4	17	71282594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49558	71282594	9912616	17673	27990											
SDK2	54549	broad.mit.edu	37	chr17	71354234	71354234	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcacctgaaggtctggcctcGatgacgtagcgggtgatggg	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71354234G>A	ENST00000392650.3	-	40	5577	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	SDK2_ENST00000388726.3_Silent_p.I1840I|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1859	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTGGCCTCGATGACGTAGC	0.647																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(5575-5577)atC>atT		sidekick cell adhesion molecule 2							150	142	144					17																	71354234		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71354234G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5577C>T	17.37:g.71354234G>A						SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.I1840I	p.I1859I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			40	5577	-			1859			Fibronectin type-III 13.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.5577C>T	CCDS45769.1																																																																																				0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		194	874	0	0	0	1	0	194	874					A	71354234	G	A	71354234	2	1	79	1	0	0	0	0	0	0	0	1	14019	1048	37	1		1	SDK2	17	71354234	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71640	71354234	9840976	17674	27991											
SDK2	54549	broad.mit.edu	37	chr17	71364628	71364628	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggccacgctgaccatgtaGgccgtgtagccagtcaagtt	13	12	1	1	rs146100082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71364628G>T	ENST00000392650.3	-	37	5085	c.5085C>A	c.(5083-5085)gcC>gcA	p.A1695A	SDK2_ENST00000388726.3_Silent_p.A1676A|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1695	Fibronectin type-III 11. {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						TGACCATGTAGGCCGTGTAGC	0.632																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(5083-5085)gcC>gcA		sidekick cell adhesion molecule 2							60	45	50					17																	71364628		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71364628G>T	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.5085C>A	17.37:g.71364628G>T						SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Silent_p.A1676A	p.A1695A	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			37	5085	-			1695			Fibronectin type-III 11.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.5085C>A	CCDS45769.1																																																																																				0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		9	75	1	0	3.86212e-05	1	3.93988e-05	9	75					T	71364628	G	T	71364628	2	4	79	1	0	0	0	0	0	0	0	1	14019	987	35	3		3	SDK2	17	71364628	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10394	71364628	9830582	17675	27992											
SDK2	54549	broad.mit.edu	37	chr17	71398243	71398243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggccgggcggtcaccatgGtaacctcctcttcctgttcc	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398243G>A	ENST00000392650.3	-	19	2522	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	841	Fibronectin type-III 3. {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						GGTCACCATGGTAACCTCCTC	0.587																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(2521-2523)aCc>aTc		sidekick cell adhesion molecule 2							96	74	82					17																	71398243		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71398243G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2522C>T	17.37:g.71398243G>A	ENSP00000376421:p.Thr841Ile					SDK2_ENST00000388726.3_Missense_Mutation_p.T841I	p.T841I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			19	2522	-			841			Fibronectin type-III 3.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2522C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005846	0.54254	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57107	0.42;0.42;1.57	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.108394	0.64402	D	0.000007	T	0.40645	0.1125	L	0.28556	0.865	0.51233	D	0.999915	B;B	0.17038	0.013;0.02	B;B	0.17979	0.02;0.014	T	0.22034	-1.0228	10	0.36615	T	0.2	.	12.2987	0.54862	0.0782:0.0:0.9218:0.0	.	841;841	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	I	465;841;841;17;841	ENSP00000376421:T841I;ENSP00000373378:T841I;ENSP00000407098:T17I	ENSP00000324967:T841I	T	-	2	0	SDK2	68909838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.646000	0.74348	2.540000	0.85666	0.597000	0.82753	ACC		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		47	217	0	0	0	1	0	47	217					A	71398243	G	A	71398243	3	1	79	1	0	0	0	0	1	0	0	0	14019	1261	44	2	4104	2	SDK2	17	71398243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33615	71398243	9796967	17676	27993											
SDK2	54549	broad.mit.edu	37	chr17	71398273	71398273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctgttccggctcccagGcgatcagctgcggagaggcg	14	14	1	1	rs576079011		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398273G>A	ENST00000392650.3	-	19	2492	c.2492C>T	c.(2491-2493)gCc>gTc	p.A831V	SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	831	Fibronectin type-III 3. {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						CGGCTCCCAGGCGATCAGCTG	0.602																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(2491-2493)gCc>gTc		sidekick cell adhesion molecule 2							66	55	59					17																	71398273		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71398273G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2492C>T	17.37:g.71398273G>A	ENSP00000376421:p.Ala831Val					SDK2_ENST00000388726.3_Missense_Mutation_p.A831V	p.A831V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			19	2492	-			831			Fibronectin type-III 3.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2492C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276295	0.59649	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.55413	0.52;0.52;1.51	4.94	4.94	0.65067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055352	0.64402	D	0.000001	T	0.39600	0.1084	N	0.20401	0.57	0.52501	D	0.99995	B;B	0.16396	0.017;0.016	B;B	0.29785	0.067;0.107	T	0.22103	-1.0226	10	0.30078	T	0.28	.	12.0414	0.53454	0.0798:0.0:0.9202:0.0	.	831;831	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	V	455;831;831;7;831	ENSP00000376421:A831V;ENSP00000373378:A831V;ENSP00000407098:A7V	ENSP00000324967:A831V	A	-	2	0	SDK2	68909868	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.414000	0.73318	2.470000	0.83445	0.499000	0.49734	GCC		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		11	218	0	0	0	1	0	11	218					A	71398273	G	A	71398273	3	1	79	1	0	0	0	0	1	0	0	0	14019	1203	42	2	4134	2	SDK2	17	71398273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	71398273	9796937	17677	27994											
SDK2	54549	broad.mit.edu	37	chr17	71418553	71418553	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggggtccacactggccaGgagtacagtccagggggcat	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71418553G>A	ENST00000392650.3	-	15	1918	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SDK2_ENST00000388726.3_Silent_p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	640	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACACTGGCCAGGAGTACAGTC	0.592																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1918-1920)Ctg>Ttg		sidekick cell adhesion molecule 2							148	126	133					17																	71418553		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71418553G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1918C>T	17.37:g.71418553G>A						SDK2_ENST00000388726.3_Silent_p.L640L	p.L640L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			15	1918	-			640			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.1918C>T	CCDS45769.1																																																																																				0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		101	468	0	0	0	1	0	101	468					A	71418553	G	A	71418553	2	1	79	1	0	0	0	0	0	0	0	1	14019	991	35	2		2	SDK2	17	71418553	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20280	71418553	9776657	17678	27995											
TTYH2	94015	broad.mit.edu	37	chr17	72239532	72239532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggctctcctacctcctgCtctttatcctggacctggtc	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239532C>T	ENST00000269346.4	+	5	729	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	219						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						CTACCTCCTGCTCTTTATCCT	0.622																																						ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(655-657)Ctc>Ttc		tweety family member 2							238	178	198					17																	72239532		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72239532C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.655C>T	17.37:g.72239532C>T	ENSP00000269346:p.Leu219Phe					TTYH2_ENST00000529107.1_Missense_Mutation_p.L198F|TTYH2_ENST00000534346.1_3'UTR	p.L219F	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			5	729	+			219					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.655C>T	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489369	0.44249	.	.	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.17370	2.28;2.28	5.25	2.17	0.27698	.	0.127696	0.53938	N	0.000052	T	0.27524	0.0676	M	0.88450	2.955	0.80722	D	1	P;P	0.45634	0.752;0.863	B;P	0.45506	0.393;0.483	T	0.03068	-1.1076	10	0.66056	D	0.02	-10.2815	5.8943	0.18931	0.1365:0.6405:0.0:0.223	.	198;219	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	F	219;198	ENSP00000269346:L219F;ENSP00000433089:L198F	ENSP00000269346:L219F	L	+	1	0	TTYH2	69751127	1.000000	0.71417	0.913000	0.36048	0.929000	0.56500	2.743000	0.47442	0.230000	0.21059	-0.181000	0.13052	CTC		0.622	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			97	407	0	0	0	1	0	97	407					T	72239532	C	T	72239532	3	4	79	1	0	0	0	0	1	0	0	0	16794	797	28	2	673	2	TTYH2	17	72239532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	820979	72239532	8955678	17679	27996											
TTYH2	94015	broad.mit.edu	37	chr17	72239558	72239558	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctggacctggtcatctgCctcattgcctgcctgggact	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239558C>T	ENST00000269346.4	+	5	755	c.681C>T	c.(679-681)tgC>tgT	p.C227C	TTYH2_ENST00000529107.1_Silent_p.C206C|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	227						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						TGGTCATCTGCCTCATTGCCT	0.607																																						ENST00000269346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(679-681)tgC>tgT		tweety family member 2							241	185	204					17																	72239558		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72239558C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.681C>T	17.37:g.72239558C>T						TTYH2_ENST00000529107.1_Silent_p.C206C|TTYH2_ENST00000534346.1_3'UTR	p.C227C	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN			5	755	+			227					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.681C>T	CCDS32717.1																																																																																				0.607	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			96	445	0	0	0	1	0	96	445					T	72239558	C	T	72239558	2	4	79	1	0	0	0	0	0	0	0	1	16794	747	26	2		2	TTYH2	17	72239558	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26	72239558	8955652	17680	27997											
DNAI2	64446	broad.mit.edu	37	chr17	72301399	72301399	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accgagcagggcatcgtcatCtcctgcaaccgcaaggccaa	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72301399C>A	ENST00000311014.6	+	9	1096	c.1029C>A	c.(1027-1029)atC>atA	p.I343I	DNAI2_ENST00000582036.1_Silent_p.I343I|RP11-647F2.2_ENST00000585167.1_RNA|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000579490.1_Silent_p.I400I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	343					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						GCATCGTCATCTCCTGCAACC	0.572									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1198-1200)atC>atA		dynein, axonemal, intermediate chain 2							97	77	84					17																	72301399		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301399C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1029C>A	17.37:g.72301399C>A						DNAI2_ENST00000307504.5_Silent_p.I200I|DNAI2_ENST00000582036.1_Silent_p.I343I|DNAI2_ENST00000446837.2_Silent_p.I343I|DNAI2_ENST00000311014.6_Silent_p.I343I	p.I400I			Q9GZS0	DNAI2_HUMAN			8	1335	+			343					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1200C>A	CCDS11697.1																																																																																				0.572	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		69	310	1	0	2.25582e-47	1	2.77644e-47	69	310					A	72301399	C	A	72301399	2	1	79	1	0	0	0	0	0	0	0	1	4626	903	32	3		3	DNAI2	17	72301399	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61841	72301399	8893811	17681	27998											
DNAI2	64446	broad.mit.edu	37	chr17	72308348	72308348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaaggaggcagacgcCataaagctgacgccagtgcc	13	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72308348C>T	ENST00000311014.6	+	12	1768	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	DNAI2_ENST00000582036.1_Silent_p.A555A|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000579490.1_Silent_p.A624A			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	567					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						AGGCAGACGCCATAAAGCTGA	0.607									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1870-1872)gcC>gcT		dynein, axonemal, intermediate chain 2							42	32	35					17																	72308348		2203	4299	6502	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308348C>T	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.1701C>T	17.37:g.72308348C>T						DNAI2_ENST00000307504.5_Intron|DNAI2_ENST00000582036.1_Silent_p.A555A|DNAI2_ENST00000446837.2_Silent_p.A567A|DNAI2_ENST00000311014.6_Silent_p.A567A	p.A624A			Q9GZS0	DNAI2_HUMAN			11	2007	+			567					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.1872C>T	CCDS11697.1																																																																																				0.607	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		12	98	0	0	0	1	0	12	98					T	72308348	C	T	72308348	2	4	79	1	0	0	0	0	0	0	0	1	4626	581	21	2		2	DNAI2	17	72308348	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6949	72308348	8886862	17682	27999											
KIF19	124602	broad.mit.edu	37	chr17	72339244	72339244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaacgacctcttccgtgCcatcgaggagaccagcaatg	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72339244C>T	ENST00000389916.4	+	5	539	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	134	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCTTCCGTGCCATCGAGGAG	0.592																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(400-402)gCc>gTc		kinesin family member 19							100	77	85					17																	72339244		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72339244C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.401C>T	17.37:g.72339244C>T	ENSP00000374566:p.Ala134Val						p.A134V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			5	539	+			134			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.401C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274337	0.59649	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.75260	-0.65;-0.92	5.48	4.51	0.55191	Kinesin, motor domain (4);	.	.	.	.	T	0.74390	0.3710	L	0.33137	0.985	0.58432	D	0.999995	P;D;P;P	0.60575	0.943;0.988;0.611;0.611	P;P;B;B	0.59643	0.811;0.861;0.219;0.408	T	0.69617	-0.5097	9	0.17369	T	0.5	.	13.3003	0.60321	0.0:0.9221:0.0:0.0779	.	134;134;134;134	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	134	ENSP00000449134:A134V;ENSP00000374566:A134V	ENSP00000374566:A134V	A	+	2	0	KIF19	69850839	1.000000	0.71417	0.943000	0.38184	0.254000	0.26022	5.590000	0.67530	1.342000	0.45619	-0.265000	0.10407	GCC		0.592	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		8	146	0	0	0	1	0	8	146					T	72339244	C	T	72339244	3	4	79	1	0	0	0	0	1	0	0	0	8312	739	26	2	419	2	KIF19	17	72339244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30896	72339244	8855966	17683	28000											
KIF19	124602	broad.mit.edu	37	chr17	72345379	72345379	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcccagtacaccagcatcatCgctgacctgcggggcgagat	12	14	1	2	rs372926359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72345379C>T	ENST00000389916.4	+	10	1242	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	368					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						CCAGCATCATCGCTGACCTGC	0.642																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1102-1104)atC>atT		kinesin family member 19		C		0,4406		0,0,2203	75	64	68		1104	3.8	0.9	17		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF19	NM_153209.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		368/999	72345379	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345379C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1104C>T	17.37:g.72345379C>T							p.I368I	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			10	1242	+			368					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1104C>T	CCDS32718.2																																																																																				0.642	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		37	174	0	0	0	1	0	37	174					T	72345379	C	T	72345379	2	4	79	1	0	0	0	0	0	0	0	1	8312	874	31	1		1	KIF19	17	72345379	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6135	72345379	8849831	17684	28001											
KIF19	124602	broad.mit.edu	37	chr17	72346711	72346711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacctgctcaccatcgCcgggtaagcccccctcccag	8	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72346711C>T	ENST00000389916.4	+	11	1523	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	462					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						CTCACCATCGCCGGGTAAGCC	0.672																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1384-1386)gCc>gTc		kinesin family member 19							26	25	25					17																	72346711		2203	4298	6501	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72346711C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1385C>T	17.37:g.72346711C>T	ENSP00000374566:p.Ala462Val						p.A462V	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			11	1523	+			462					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.1385C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066952	0.76301	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74209	-0.82;-0.58	5.67	5.67	0.87782	.	.	.	.	.	D	0.84538	0.5494	M	0.69823	2.125	0.58432	D	0.999999	P;D;P;P	0.65815	0.923;0.995;0.837;0.734	P;P;P;P	0.62560	0.754;0.904;0.713;0.559	D	0.84054	0.0371	9	0.46703	T	0.11	.	18.5927	0.91220	0.0:1.0:0.0:0.0	.	462;420;420;462	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	420;462	ENSP00000449134:A420V;ENSP00000374566:A462V	ENSP00000374566:A462V	A	+	2	0	KIF19	69858306	1.000000	0.71417	0.614000	0.29051	0.022000	0.10575	6.963000	0.76055	2.695000	0.91970	0.650000	0.86243	GCC		0.672	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		18	133	0	0	0	1	0	18	133					T	72346711	C	T	72346711	3	4	79	1	0	0	0	0	1	0	0	0	8312	739	26	2	1427	2	KIF19	17	72346711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1332	72346711	8848499	17685	28002											
GPRC5C	55890	broad.mit.edu	37	chr17	72435964	72435964	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggactgcctctcttcCtgttcccaggggcctgggcc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72435964C>A	ENST00000481232.1	+	2	695	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	GPRC5C_ENST00000392627.1_Missense_Mutation_p.L62M|GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M|GPRC5C_ENST00000342648.5_Intron			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	17					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						GCCTCTCTTCCTGTTCCCAGG	0.642																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(184-186)Ctg>Atg		G protein-coupled receptor, family C, group 5, member C							58	53	55					17																	72435964		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72435964C>A	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.184C>A	17.37:g.72435964C>A	ENSP00000462147:p.Leu62Met					GPRC5C_ENST00000481232.1_Missense_Mutation_p.L62M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.L29M	p.L62M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	1310	+			17					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000481232.1	37	c.184C>A		.	.	.	.	.	.	.	.	.	.	C	7.074	0.568859	0.13560	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T;T	0.20200	2.09;2.12	5.49	3.36	0.38483	.	0.416385	0.21947	N	0.066782	T	0.33673	0.0871	L	0.59436	1.845	0.09310	N	1	P;P;P;D	0.60160	0.826;0.651;0.763;0.987	B;B;B;P	0.58391	0.259;0.259;0.444;0.838	T	0.06607	-1.0817	10	0.87932	D	0	-2.0659	8.7494	0.34607	0.0:0.7846:0.0:0.2154	.	17;17;29;17	A8MXZ4;Q9NQ84;Q9NQ84-2;Q9BSP0	.;GPC5C_HUMAN;.;.	M	17;62;17;29;17	ENSP00000376405:L29M;ENSP00000376404:L17M	ENSP00000262616:L17M	L	+	1	2	GPRC5C	69947559	0.093000	0.21703	0.426000	0.26672	0.968000	0.65278	1.296000	0.33389	1.143000	0.42306	0.561000	0.74099	CTG		0.642	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2			66	285	1	0	3.57465e-26	1	4.11543e-26	66	285					A	72435964	C	A	72435964	3	1	79	1	0	0	0	0	1	0	0	0	6756	680	24	3	198	3	GPRC5C	17	72435964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89253	72435964	8759246	17686	28003											
GPRC5C	55890	broad.mit.edu	37	chr17	72436648	72436648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtaagcatggggtctttGtgctcctcaccacagccacc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72436648G>A	ENST00000392627.1	+	2	1994	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	245					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						TGGGGTCTTTGTGCTCCTCAC	0.607																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(868-870)Gtg>Atg		G protein-coupled receptor, family C, group 5, member C							79	56	64					17																	72436648		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436648G>A	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.868G>A	17.37:g.72436648G>A	ENSP00000376403:p.Val290Met					GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V257M	p.V290M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	1994	+			245					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.868G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189503	0.38707	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000392629;ENST00000392628	D	0.88975	-2.45	5.79	3.69	0.42338	GPCR, family 3, C-terminal (2);	0.299751	0.34268	N	0.004116	D	0.88633	0.6489	L	0.48642	1.525	0.37849	D	0.929327	P;P;P	0.42620	0.785;0.785;0.745	P;P;P	0.55345	0.774;0.675;0.664	D	0.88618	0.3161	10	0.87932	D	0	-17.0307	4.3277	0.11048	0.2478:0.174:0.5783:0.0	.	245;245;257	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	M	245;290;257;245	ENSP00000376405:V257M	ENSP00000340595:V290M	V	+	1	0	GPRC5C	69948243	0.968000	0.33430	0.997000	0.53966	0.348000	0.29142	1.942000	0.40243	1.454000	0.47793	0.561000	0.74099	GTG		0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			24	264	0	0	0	1	0	24	264					A	72436648	G	A	72436648	3	1	79	1	0	0	0	0	1	0	0	0	6756	1377	48	2	882	2	GPRC5C	17	72436648	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	72436648	8758562	17687	28004											
GPRC5C	55890	broad.mit.edu	37	chr17	72439974	72439974	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagctaagaggccggtgtcaCcatacagcgggtacaatggg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72439974C>A	ENST00000481232.1	+	3	934	c.423C>A	c.(421-423)caC>caA	p.H141Q	GPRC5C_ENST00000392627.1_Missense_Mutation_p.P402T|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000582873.1_3'UTR			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	0					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						GCCGGTGTCACCATACAGCGG	0.572																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1204-1206)Cca>Aca		G protein-coupled receptor, family C, group 5, member C							125	107	113					17																	72439974		2203	4300	6503	SO:0001583	missense	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72439974C>A	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.423C>A	17.37:g.72439974C>A	ENSP00000462147:p.His141Gln					GPRC5C_ENST00000481232.1_Missense_Mutation_p.H141Q|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000342648.5_Missense_Mutation_p.P42T|GPRC5C_ENST00000392629.2_Missense_Mutation_p.P369T	p.P402T	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			3	2330	+			357					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000481232.1	37	c.1204C>A		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508381	0.27036	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.18810	2.19	5.3	5.3	0.74995	.	0.298370	0.36519	N	0.002557	T	0.43233	0.1238	L	0.53249	1.67	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;0.981;0.981;0.992	T	0.28004	-1.0057	10	0.72032	D	0.01	-21.0327	16.4521	0.83994	0.0:1.0:0.0:0.0	.	68;357;357;369	Q9NXI0;A8MXZ4;Q9NQ84;Q9NQ84-2	.;.;GPC5C_HUMAN;.	T	357;402;68;369;357	ENSP00000376405:P369T	ENSP00000262616:P68T	P	+	1	0	GPRC5C	69951569	1.000000	0.71417	0.676000	0.29932	0.318000	0.28184	5.328000	0.65887	2.483000	0.83821	0.643000	0.83706	CCA		0.572	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000145095.2			67	290	1	0	6.06247e-24	1	6.9123e-24	67	290					A	72439974	C	A	72439974	3	1	79	1	0	0	0	0	1	0	0	0	6756	507	18	3	1222	3	GPRC5C	17	72439974	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3326	72439974	8755236	17688	28005											
CD300A	11314	broad.mit.edu	37	chr17	72477915	72477915	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctggagctgctgatgtgGcctctgcaggaaaagccagc	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72477915G>A	ENST00000360141.3	+	6	1005	c.717G>A	c.(715-717)tgG>tgA	p.W239*	CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	239					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						TGCTGATGTGGCCTCTGCAGG	0.637																																						ENST00000360141.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(715-717)tgG>tgA		CD300a molecule							55	43	47					17																	72477915		2203	4300	6503	SO:0001587	stop_gained	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72477915G>A	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.717G>A	17.37:g.72477915G>A	ENSP00000353259:p.Trp239*					CD300A_ENST00000310828.5_Nonsense_Mutation_p.W126*|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Nonsense_Mutation_p.W43*|CD300A_ENST00000577511.1_Nonsense_Mutation_p.W109*	p.W239*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN			6	1005	+			239					A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Nonsense_Mutation	SNP	ENST00000360141.3	37	c.717G>A	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082356	0.36758	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000310828	.	.	.	4.11	2.01	0.26516	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1405	0.25554	0.0:0.2098:0.6069:0.1833	.	.	.	.	X	43;239;126	.	ENSP00000308188:W126X	W	+	3	0	CD300A	69989510	0.001000	0.12720	0.000000	0.03702	0.034000	0.12701	0.979000	0.29500	0.627000	0.30340	0.561000	0.74099	TGG		0.637	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		15	86	0	0	0	1	0	15	86					A	72477915	G	A	72477915	4	1	79	1	0	0	0	0	0	1	0	0	3005	1212	42	2	739	2	CD300A	17	72477915	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37941	72477915	8717295	17689	28006											
C17orf77	146723	broad.mit.edu	37	chr17	72588204	72588204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatggatgaattggcgctgTcattttccctgacatgtctc	11	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72588204T>C	ENST00000392620.1	+	3	381	c.19T>C	c.(19-21)Tca>Cca	p.S7P	C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	7						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTGGCGCTGTCATTTTCCCT	0.463																																						ENST00000392620.1																			0				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(19-21)Tca>Cca		chromosome 17 open reading frame 77							110	111	111					17																	72588204		2203	4300	6503	SO:0001583	missense	146723					extracellular region		g.chr17:72588204T>C		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.19T>C	17.37:g.72588204T>C	ENSP00000376396:p.Ser7Pro					CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.S7P	p.S7P	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN			3	381	+			7						Missense_Mutation	SNP	ENST00000392620.1	37	c.19T>C	CCDS32721.1	.	.	.	.	.	.	.	.	.	.	T	3.776	-0.046570	0.07407	.	.	ENSG00000182352	ENST00000524389;ENST00000392620;ENST00000328023	T;T	0.54866	0.55;0.55	2.47	-2.1	0.07210	.	.	.	.	.	T	0.28200	0.0696	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.18967	-1.0320	9	0.87932	D	0	.	6.4509	0.21903	0.0:0.3307:0.0:0.6693	.	7	Q96MU5	CQ077_HUMAN	P	7	ENSP00000376396:S7P;ENSP00000329353:S7P	ENSP00000329353:S7P	S	+	1	0	C17orf77	70099799	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.118000	0.10692	-0.473000	0.06871	-0.961000	0.02630	TCA		0.463	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		102	488	0	0	0	1	0	102	488					C	72588204	T	C	72588204	3	2	79	1	0	0	0	0	1	0	0	0	1888	1667	58	4	21	4	C17orf77	17	72588204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	110289	72588204	8607006	17690	28007											
CD300LF	146722	broad.mit.edu	37	chr17	72699238	72699238	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgggtgactggtgCtgtaaacgtagtggaggtag	15	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72699238C>A	ENST00000326165.6	-	3	494		c.e3-1		CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Splice_Site|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S|CD300LF_ENST00000343125.4_Splice_Site|CD300LF_ENST00000361254.4_Missense_Mutation_p.A146S|CD300LF_ENST00000301573.9_Splice_Site|CD300LF_ENST00000469092.1_Splice_Site	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f						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						GTGACTGGTGCTGTAAACGTA	0.567																																						ENST00000361254.4																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(436-438)Gca>Tca		CD300 molecule-like family member f							216	174	188					17																	72699238		2203	4300	6503	SO:0001630	splice_region_variant	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72699238C>A	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.383-1G>T	17.37:g.72699238C>A						CD300LF_ENST00000469092.1_Splice_Site|CD300LF_ENST00000343125.4_Splice_Site|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Splice_Site|CD300LF_ENST00000301573.9_Splice_Site|CD300LF_ENST00000583937.1_Missense_Mutation_p.A143S|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Splice_Site|CD300LF_ENST00000581500.1_Missense_Mutation_p.A146S	p.A146S			Q8TDQ1	CLM1_HUMAN			3	435	-			128					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.436G>T	CCDS11704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.397|5.397	0.258510|0.258510	0.10239|0.10239	.|.	.|.	ENSG00000186074|ENSG00000186074	ENST00000301573;ENST00000343125;ENST00000326165|ENST00000361254	.|T	.|0.03663	.|3.85	4.35|4.35	0.167|0.167	0.15006|0.15006	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02193	.|0.0068	.|.	.|.	.|.	0.20196|0.20196	N|N	0.999926|0.999926	.|P;B	.|0.35272	.|0.493;0.42	.|B;B	.|0.29176	.|0.045;0.099	.|T	.|0.48833	.|-0.9000	.|7	.|.	.|.	.|.	.|.	6.1128|6.1128	0.20110|0.20110	0.0:0.5579:0.0:0.4421|0.0:0.5579:0.0:0.4421	.|.	.|143;146	.|E7EME0;Q8TDQ1-2	.|.;.	.|S	-1|146	.|ENSP00000355294:A146S	.|.	.|A	-|-	.|1	.|0	CD300LF|CD300LF	70210833|70210833	0.013000|0.013000	0.17824|0.17824	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-0.022000|-0.022000	0.12480|0.12480	0.221000|0.221000	0.20879|0.20879	0.655000|0.655000	0.94253|0.94253	.|GCA		0.567	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018	Intron	49	308	1	0	1.64591e-14	1	1.78884e-14	49	308					A	72699238	C	A	72699238	5	1	79	1	0	0	0	0	0	0	1	0	3010	811	28	3	510	3	CD300LF	17	72699238	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111034	72699238	8495972	17691	28008											
CD300LF	146722	broad.mit.edu	37	chr17	72700910	72700910	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggagccccgctccaagCcattcactgttgttggaccg	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72700910C>T	ENST00000326165.6	-	2	200	c.89G>A	c.(88-90)gGc>gAc	p.G30D	CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D|CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|CD300LF_ENST00000469092.1_Missense_Mutation_p.G33D	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	30	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						CCGCTCCAAGCCATTCACTGT	0.542																																						ENST00000469092.1																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(97-99)gGc>gAc		CD300 molecule-like family member f							73	67	69					17																	72700910		2203	4300	6503	SO:0001583	missense	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72700910C>T	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.89G>A	17.37:g.72700910C>T	ENSP00000327075:p.Gly30Asp					CD300LF_ENST00000343125.4_Missense_Mutation_p.G33D|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Missense_Mutation_p.G30D|CD300LF_ENST00000301573.9_Missense_Mutation_p.G30D|CD300LF_ENST00000583937.1_Missense_Mutation_p.G30D|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.G33D|CD300LF_ENST00000361254.4_Missense_Mutation_p.G33D|CD300LF_ENST00000581500.1_Missense_Mutation_p.G33D	p.G33D			Q8TDQ1	CLM1_HUMAN			3	374	-			30			Ig-like V-type.		B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	c.98G>A	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168291	0.57584	.	.	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.35	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.261665	0.26700	N	0.022958	D	0.84474	0.5480	H	0.95780	3.72	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.997;0.998;0.997;0.998;0.997	T	0.75286	-0.3371	10	0.87932	D	0	.	8.3165	0.32104	0.154:0.7612:0.0:0.0848	.	30;33;33;30;30;33	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	D	30;33;33;30	ENSP00000301573:G30D;ENSP00000355294:G33D;ENSP00000343751:G33D;ENSP00000327075:G30D	ENSP00000301573:G30D	G	-	2	0	CD300LF	70212505	0.010000	0.17322	0.014000	0.15608	0.001000	0.01503	1.129000	0.31381	1.385000	0.46445	0.561000	0.74099	GGC		0.542	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		21	477	0	0	0	1	0	21	477					T	72700910	C	T	72700910	3	4	79	1	0	0	0	0	1	0	0	0	3010	739	26	2	807	2	CD300LF	17	72700910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1672	72700910	8494300	17692	28009											
RAB37	326624	broad.mit.edu	37	chr17	72733174	72733174	+	5'Flank	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcatgtccgaagcgcacgGagccgagccggtgttgctca	14	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72733174G>A	ENST00000392613.5	+	0	0				RAB37_ENST00000392610.1_5'Flank|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.G9E|RAB37_ENST00000392612.3_5'Flank|RAB37_ENST00000392615.5_Missense_Mutation_p.G9E	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family						protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GAAGCGCACGGAGCCGAGCCG	0.721																																						ENST00000392614.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(25-27)gGa>gAa		RAB37, member RAS oncogene family							12	15	14					17																	72733174		1552	3554	5106	SO:0001631	upstream_gene_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72733174G>A	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"RAB, member RAS oncogene"	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282		17.37:g.72733174G>A	Exception_encountered					RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000528438.1_Intron|RAB37_ENST00000392615.5_Missense_Mutation_p.G9E	p.G9E	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN			1	119	+			0					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.26G>A	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720324	0.48728	.	.	ENSG00000172794	ENST00000392615;ENST00000392614	T;T	0.61859	0.22;0.07	2.95	0.212	0.15240	.	0.826663	0.10644	N	0.650702	T	0.68284	0.2984	.	.	.	0.09310	N	0.999995	D;B	0.89917	1.0;0.0	D;B	0.97110	1.0;0.0	T	0.54050	-0.8351	9	0.49607	T	0.09	.	5.0648	0.14576	0.6935:0.0:0.3065:0.0	.	9;9	A8MZI4;A8MYT0	.;.	E	9	ENSP00000376391:G9E;ENSP00000376390:G9E	ENSP00000376390:G9E	G	+	2	0	RAB37	70244769	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.157000	0.16402	0.029000	0.15352	0.462000	0.41574	GGA		0.721	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		18	81	0	0	0	1	0	18	81					A	72733174	G	A	72733174	1	1	79	0	1	0	0	0	0	0	0	0	12977	1174	41	2		2	RAB37	17	72733174	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32264	72733174	8462036	17693	28010											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72763082	72763082	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttgcctaggtcccctGcctgtgcccttcaccaatgg	9	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72763082G>A	ENST00000262613.5	+	4	960	c.765G>A	c.(763-765)ctG>ctA	p.L255L	SLC9A3R1_ENST00000413388.2_Silent_p.L99L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	255					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TAGGTCCCCTGCCTGTGCCCT	0.537																																						ENST00000262613.5																			0				large_intestine(4)	4						c.(763-765)ctG>ctA		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							167	135	146					17																	72763082		2203	4300	6503	SO:0001819	synonymous_variant	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72763082G>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.765G>A	17.37:g.72763082G>A						SLC9A3R1_ENST00000413388.2_Silent_p.L99L	p.L255L	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN			4	960	+			255					B3KY21|O43552|Q86WQ5	Silent	SNP	ENST00000262613.5	37	c.765G>A	CCDS11705.1																																																																																				0.537	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			103	347	0	0	0	1	0	103	347					A	72763082	G	A	72763082	2	1	79	1	0	0	0	0	0	0	0	1	14764	1306	46	2		2	SLC9A3R1	17	72763082	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29908	72763082	8432128	17694	28011											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72764365	72764365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatccgcctccagtgacaCcagcgaggaggtaggccagc	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72764365C>T	ENST00000262613.5	+	5	1073	c.878C>T	c.(877-879)aCc>aTc	p.T293I	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	293					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TCCAGTGACACCAGCGAGGAG	0.642																																						ENST00000262613.5																			0				large_intestine(4)	4						c.(877-879)aCc>aTc		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							44	50	48					17																	72764365		2203	4300	6503	SO:0001583	missense	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72764365C>T	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.878C>T	17.37:g.72764365C>T	ENSP00000262613:p.Thr293Ile					SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.T137I	p.T293I	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN			5	1073	+			293					B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	c.878C>T	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039640	0.19669	.	.	ENSG00000109062	ENST00000262613	T	0.31247	1.5	4.37	4.37	0.52481	.	0.489229	0.22378	N	0.060844	T	0.30727	0.0774	M	0.67953	2.075	0.35992	D	0.836765	B	0.12630	0.006	B	0.09377	0.004	T	0.28038	-1.0056	10	0.19147	T	0.46	-12.1327	12.783	0.57487	0.0:1.0:0.0:0.0	.	293	O14745	NHRF1_HUMAN	I	293	ENSP00000262613:T293I	ENSP00000262613:T293I	T	+	2	0	SLC9A3R1	70275960	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	3.450000	0.52957	2.142000	0.66516	0.467000	0.42956	ACC		0.642	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			99	401	0	0	0	1	0	99	401					T	72764365	C	T	72764365	3	4	79	1	0	0	0	0	1	0	0	0	14764	507	18	2	896	2	SLC9A3R1	17	72764365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1283	72764365	8430845	17695	28012											
GRIN2C	2905	broad.mit.edu	37	chr17	72838586	72838586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgataactcacacttctgaCtccagactggagatccgtct	7	13	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72838586C>T	ENST00000293190.5	-	13	3836	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1230					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)	ACACTTCTGACTCCAGACTGG	0.607																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(3688-3690)gaG>gaA		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						27	26	26					17																	72838586		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72838586C>T		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.3690G>A	17.37:g.72838586C>T							p.E1230E	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			13	3836	-	all_lung(278;0.172)|Lung NSC(278;0.207)		1230					B2RTT1	Silent	SNP	ENST00000293190.5	37	c.3690G>A	CCDS32724.1																																																																																				0.607	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			30	167	0	0	0	1	0	30	167					T	72838586	C	T	72838586	2	4	79	1	0	0	0	0	0	0	0	1	6811	564	20	2		2	GRIN2C	17	72838586	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74221	72838586	8356624	17696	28013											
GRIN2C	2905	broad.mit.edu	37	chr17	72842218	72842218	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacccaccgtcccccaggaaCtgcaagagcgccaggtctat	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72842218C>A	ENST00000293190.5	-	11	2483	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	779					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)	CCCCCAGGAACTGCAAGAGCG	0.602																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2335-2337)caG>caT		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						142	115	124					17																	72842218		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72842218C>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2337G>T	17.37:g.72842218C>A	ENSP00000293190:p.Gln779His					GRIN2C_ENST00000347612.4_Missense_Mutation_p.Q779H	p.Q779H	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			11	2483	-	all_lung(278;0.172)|Lung NSC(278;0.207)		779					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2337G>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774255	0.31411	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.28069	1.63	4.21	2.16	0.27623	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	L	0.37850	1.14	0.51233	D	0.999914	D;D	0.71674	0.998;0.99	D;D	0.65140	0.932;0.913	T	0.17258	-1.0375	10	0.87932	D	0	.	10.0838	0.42406	0.0:0.8309:0.0:0.1691	.	813;779	Q8IW23;Q14957	.;NMDE3_HUMAN	H	779;813	ENSP00000293190:Q779H	ENSP00000293190:Q779H	Q	-	3	2	GRIN2C	70353813	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.192000	0.50989	0.504000	0.28082	0.561000	0.74099	CAG		0.602	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			85	499	1	0	2.58158e-40	1	3.12921e-40	85	499					A	72842218	C	A	72842218	3	1	79	1	0	0	0	0	1	0	0	0	6811	564	20	3	1376	3	GRIN2C	17	72842218	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3632	72842218	8352992	17697	28014											
GRIN2C	2905	broad.mit.edu	37	chr17	72843044	72843044	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcggaaaggtgggtactgatCttgaggccgctgaaactgca	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843044C>A	ENST00000293190.5	-	10	2163	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	673					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)	GGGTACTGATCTTGAGGCCGC	0.617																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2017-2019)Gat>Tat		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						92	83	86					17																	72843044		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843044C>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2017G>T	17.37:g.72843044C>A	ENSP00000293190:p.Asp673Tyr					GRIN2C_ENST00000347612.4_Missense_Mutation_p.D673Y	p.D673Y	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			10	2163	-	all_lung(278;0.172)|Lung NSC(278;0.207)		673					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.2017G>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307337	0.40795	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.40476	1.03	4.63	4.63	0.57726	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.228759	0.42420	D	0.000702	T	0.46367	0.1389	N	0.22421	0.69	0.58432	D	0.999996	P;D	0.56035	0.896;0.974	B;P	0.57101	0.382;0.813	T	0.51560	-0.8690	10	0.87932	D	0	.	16.7658	0.85523	0.0:1.0:0.0:0.0	.	707;673	Q8IW23;Q14957	.;NMDE3_HUMAN	Y	673;707	ENSP00000293190:D673Y	ENSP00000293190:D673Y	D	-	1	0	GRIN2C	70354639	1.000000	0.71417	0.096000	0.21009	0.899000	0.52679	7.577000	0.82486	2.548000	0.85928	0.561000	0.74099	GAT		0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			30	397	1	0	4.02929e-09	1	4.23443e-09	30	397					A	72843044	C	A	72843044	3	1	79	1	0	0	0	0	1	0	0	0	6811	913	32	3	1700	3	GRIN2C	17	72843044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	826	72843044	8352166	17698	28015											
GRIN2C	2905	broad.mit.edu	37	chr17	72843650	72843650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccacacggacttgcCgatagtgaaagctgggcccc	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843650C>T	ENST00000293190.5	-	9	1944	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	600					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)	ACGGACTTGCCGATAGTGAAA	0.652																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1798-1800)Ggc>Agc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						24	26	25					17																	72843650		2203	4297	6500	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72843650C>T		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.1798G>A	17.37:g.72843650C>T	ENSP00000293190:p.Gly600Ser					GRIN2C_ENST00000347612.4_Missense_Mutation_p.G600S	p.G600S	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			9	1944	-	all_lung(278;0.172)|Lung NSC(278;0.207)		600					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1798G>A	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605203	0.46423	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.49720	0.77	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	N	0.17674	0.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60929	-0.7165	10	0.56958	D	0.05	.	16.89	0.86084	0.0:1.0:0.0:0.0	.	634;600	Q8IW23;Q14957	.;NMDE3_HUMAN	S	600;634	ENSP00000293190:G600S	ENSP00000293190:G600S	G	-	1	0	GRIN2C	70355245	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	7.599000	0.82757	2.357000	0.79964	0.561000	0.74099	GGC		0.652	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			34	192	0	0	0	1	0	34	192					T	72843650	C	T	72843650	3	4	79	1	0	0	0	0	1	0	0	0	6811	652	23	1	1923	1	GRIN2C	17	72843650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	606	72843650	8351560	17699	28016											
GRIN2C	2905	broad.mit.edu	37	chr17	72848164	72848164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccacctgtagaaggccTcccgggcagggctgacgggc	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72848164T>C	ENST00000293190.5	-	3	1132	c.986A>G	c.(985-987)gAg>gGg	p.E329G	GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	329					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)	GTAGAAGGCCTCCCGGGCAGG	0.721																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(985-987)gAg>gGg		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						7	8	8					17																	72848164		2013	4009	6022	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72848164T>C		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.986A>G	17.37:g.72848164T>C	ENSP00000293190:p.Glu329Gly					GRIN2C_ENST00000347612.4_Missense_Mutation_p.E329G	p.E329G	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			3	1132	-	all_lung(278;0.172)|Lung NSC(278;0.207)		329					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.986A>G	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154715	0.38021	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.05199	3.48	4.48	4.48	0.54585	.	0.060840	0.64402	D	0.000004	T	0.05181	0.0138	N	0.21448	0.665	0.34608	D	0.717263	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.22556	-1.0213	10	0.33940	T	0.23	.	11.2339	0.48929	0.0:0.0:0.1642:0.8358	.	363;329	Q8IW23;Q14957	.;NMDE3_HUMAN	G	329;363	ENSP00000293190:E329G	ENSP00000293190:E329G	E	-	2	0	GRIN2C	70359759	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.358000	0.34102	2.003000	0.58678	0.459000	0.35465	GAG		0.721	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			22	73	0	0	0	1	0	22	73					C	72848164	T	C	72848164	3	2	79	1	0	0	0	0	1	0	0	0	6811	1551	54	4	2759	4	GRIN2C	17	72848164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4514	72848164	8347046	17700	28017											
FDXR	2232	broad.mit.edu	37	chr17	72862343	72862343	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaggaatttccagggcCcgatggtcctctgccccgta	10	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72862343C>T	ENST00000293195.5	-	5	495	c.417G>A	c.(415-417)cgG>cgA	p.R139R	FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000413947.2_Silent_p.R170R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000442102.2_Silent_p.R182R|FDXR_ENST00000455107.2_Silent_p.R95R	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	139					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TTTCCAGGGCCCGATGGTCCT	0.647																																						ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(283-285)cgG>cgA		ferredoxin reductase							42	48	46					17																	72862343		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72862343C>T	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.417G>A	17.37:g.72862343C>T						FDXR_ENST00000293195.5_Silent_p.R139R|FDXR_ENST00000544854.1_Silent_p.R87R|FDXR_ENST00000583917.1_Silent_p.R140R|FDXR_ENST00000581530.1_Silent_p.R139R|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000442102.2_Silent_p.R182R|FDXR_ENST00000420580.2_Silent_p.R99R|FDXR_ENST00000582944.1_Silent_p.R131R|FDXR_ENST00000413947.2_Silent_p.R170R	p.R95R			P22570	ADRO_HUMAN			6	701	-	all_lung(278;0.172)|Lung NSC(278;0.207)		139					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.285G>A	CCDS58593.1																																																																																				0.647	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		57	303	0	0	0	1	0	57	303					T	72862343	C	T	72862343	2	4	79	1	0	0	0	0	0	0	0	1	5832	610	22	2		2	FDXR	17	72862343	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14179	72862343	8332867	17701	28018											
USH1G	124590	broad.mit.edu	37	chr17	72916088	72916088	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtggcacgggagacgctGtcctcgtccgagaggaacat	15	11	0	2	rs397515345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72916088G>A	ENST00000319642.1	-	2	1025	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	281					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGAGACGCTGTCCTCGTCCG	0.697																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(841-843)gaC>gaT		Usher syndrome 1G (autosomal recessive)							38	48	44					17																	72916088		2200	4296	6496	SO:0001819	synonymous_variant	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72916088G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.843C>T	17.37:g.72916088G>A							p.D281D	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1025	-	all_lung(278;0.172)|Lung NSC(278;0.207)		281					Q8N251	Silent	SNP	ENST00000319642.1	37	c.843C>T	CCDS32725.1																																																																																				0.697	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		18	447	0	0	0	1	0	18	447					A	72916088	G	A	72916088	2	1	79	1	0	0	0	0	0	0	0	1	17089	1368	48	2		2	USH1G	17	72916088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53745	72916088	8279122	17702	28019											
OTOP2	92736	broad.mit.edu	37	chr17	72923852	72923852	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcccactcctacagcaGttctcacagcaacgccagcc	5	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72923852G>A	ENST00000580223.1	+	4	632	c.602G>A	c.(601-603)aGt>aAt	p.S201N	OTOP2_ENST00000331427.4_Missense_Mutation_p.S201N			Q7RTS6	OTOP2_HUMAN	otopetrin 2	201						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)					TCCTACAGCAGTTCTCACAGC	0.582																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(601-603)aGt>aAt		otopetrin 2							112	81	91					17																	72923852		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72923852G>A	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.602G>A	17.37:g.72923852G>A	ENSP00000463837:p.Ser201Asn					OTOP2_ENST00000580223.1_Missense_Mutation_p.S201N	p.S201N	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			5	694	+	all_lung(278;0.172)|Lung NSC(278;0.207)		201						Missense_Mutation	SNP	ENST00000580223.1	37	c.602G>A	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	6.619	0.482573	0.12581	.	.	ENSG00000183034	ENST00000331427	T	0.21734	1.99	4.75	0.251	0.15540	.	1.299010	0.04493	N	0.379935	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26189	-1.0110	10	0.17369	T	0.5	-15.6766	1.5731	0.02619	0.2565:0.1416:0.4567:0.1451	.	201	Q7RTS6	OTOP2_HUMAN	N	201	ENSP00000332528:S201N	ENSP00000332528:S201N	S	+	2	0	OTOP2	70435447	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.431000	0.21444	-0.002000	0.14469	0.561000	0.74099	AGT		0.582	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		33	143	0	0	0	1	0	33	143					A	72923852	G	A	72923852	3	1	79	1	0	0	0	0	1	0	0	0	11348	1029	36	2	616	2	OTOP2	17	72923852	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7764	72923852	8271358	17703	28020											
OTOP3	347741	broad.mit.edu	37	chr17	72937646	72937646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcatttctctctgctgctgCggcgggaccggcaggcccag	15	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72937646C>T	ENST00000328801.4	+	2	232	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	78						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)					TCTGCTGCTGCGGCGGGACCG	0.652																																						ENST00000328801.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(232-234)Cgg>Tgg		otopetrin 3							24	29	28					17																	72937646		2200	4297	6497	SO:0001583	missense	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72937646C>T	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.232C>T	17.37:g.72937646C>T	ENSP00000328090:p.Arg78Trp						p.R78W	NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN			2	232	+	all_lung(278;0.151)|Lung NSC(278;0.185)		78						Missense_Mutation	SNP	ENST00000328801.4	37	c.232C>T	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301549	0.60195	.	.	ENSG00000182938	ENST00000328801	T	0.10099	2.91	4.86	4.86	0.63082	.	0.227351	0.26166	N	0.025943	T	0.28995	0.0720	L	0.57536	1.79	0.41707	D	0.989438	D	0.89917	1.0	D	0.67725	0.953	T	0.02161	-1.1203	10	0.87932	D	0	-14.6963	16.1603	0.81700	0.0:1.0:0.0:0.0	.	78	Q7RTS5	OTOP3_HUMAN	W	78	ENSP00000328090:R78W	ENSP00000328090:R78W	R	+	1	2	OTOP3	70449241	0.908000	0.30866	0.997000	0.53966	0.243000	0.25628	1.560000	0.36331	2.230000	0.72887	0.462000	0.41574	CGG		0.652	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		30	147	0	0	0	1	0	30	147					T	72937646	C	T	72937646	3	4	79	1	0	0	0	0	1	0	0	0	11349	759	27	1	238	1	OTOP3	17	72937646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13794	72937646	8257564	17704	28021											
C17orf28	283987	broad.mit.edu	37	chr17	72949126	72949126	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgttgggctccactgcCcactggctgatgaggtggac	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72949126C>A	ENST00000425042.2	-	16	2104	c.2027G>T	c.(2026-2028)gGg>gTg	p.G676V		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	676					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)											GCTCCACTGCCCACTGGCTGA	0.687																																						ENST00000425042.2																			0											c.(2026-2028)gGg>gTg		HID1 domain containing							25	22	23					17																	72949126		2202	4295	6497	SO:0001583	missense	283987							g.chr17:72949126C>A		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.2027G>T	17.37:g.72949126C>A	ENSP00000413520:p.Gly676Val						p.G676V	NM_030630.2	NP_085133.1					16	2104	-								Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.2027G>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.718034	0.30503	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.09	5.09	0.68999	.	0.256286	0.34700	N	0.003741	T	0.54806	0.1881	L	0.41824	1.3	0.80722	D	1	B	0.12630	0.006	B	0.19148	0.024	T	0.49762	-0.8905	9	0.29301	T	0.29	-22.1272	16.6701	0.85263	0.0:1.0:0.0:0.0	.	676	Q8IV36	CQ028_HUMAN	V	448;676;448	.	ENSP00000317795:G448V	G	-	2	0	C17orf28	70460721	0.775000	0.28604	1.000000	0.80357	0.037000	0.13140	2.358000	0.44134	2.372000	0.80975	0.561000	0.74099	GGG		0.687	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		18	77	1	0	1.15919e-05	1	1.1882e-05	18	77					A	72949126	C	A	72949126	3	1	79	1	0	0	0	0	1	0	0	0	1859	623	22	3	355	3	C17orf28	17	72949126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11480	72949126	8246084	17705	28022											
C17orf28	283987	broad.mit.edu	37	chr17	72956031	72956031	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggttctcagggcctggaGgctgccaagaggagaagccc	15	11	1	2	rs144555805	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72956031G>A	ENST00000425042.2	-	8	1030	c.953C>T	c.(952-954)cCt>cTt	p.P318L	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	318					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)											AGGGCCTGGAGGCTGCCAAGA	0.622																																						ENST00000425042.2																			0											c.e8-1		HID1 domain containing		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	94	88	90		953	5	1	17	dbSNP_134	90	6,8594	5.0+/-18.6	0,6,4294	yes	missense-near-splice	C17orf28	NM_030630.2	98	0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615	benign	318/789	72956031	8,12998	2203	4300	6503	SO:0001630	splice_region_variant	283987							g.chr17:72956031G>A		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.952-1C>T	17.37:g.72956031G>A							p.P318_splice	NM_030630.2	NP_085133.1					8	1030	-								Q8N5L6|Q8TE83|Q9NT34	Splice_Site	SNP	ENST00000425042.2	37	c.951_splice	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761941	0.49468	4.54E-4	6.98E-4	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565;ENST00000530857	.	.	.	5.0	5.0	0.66597	.	0.280366	0.36034	N	0.002829	T	0.54159	0.1841	L	0.38531	1.155	0.58432	D	0.999997	B;B	0.23806	0.074;0.091	B;B	0.33121	0.098;0.158	T	0.48843	-0.8999	9	0.19147	T	0.46	-8.3614	13.6343	0.62213	0.0:0.1556:0.8444:0.0	.	317;318	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	L	90;318;90;210	.	ENSP00000317795:P90L	P	-	2	0	C17orf28	70467626	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	6.366000	0.73095	2.291000	0.77112	0.561000	0.74099	CCT		0.622	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	Missense_Mutation	104	500	0	0	0	1	0	104	500					A	72956031	G	A	72956031	5	1	79	1	0	0	0	0	0	0	1	0	1859	1014	35	2	1461	2	C17orf28	17	72956031	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6905	72956031	8239179	17706	28023											
SLC16A5	9121	broad.mit.edu	37	chr17	73096797	73096797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatgagtggcatcggcGccctcatcttccaggttctc	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73096797G>A	ENST00000450736.2	+	4	1454	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T|SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	347					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGGCATCGGCGCCCTCATCTT	0.592																																						ENST00000450736.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1039-1041)Gcc>Acc		solute carrier family 16 (monocarboxylate transporter), member 5	Pyruvic acid(DB00119)						240	203	216					17																	73096797		2203	4300	6503	SO:0001583	missense	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73096797G>A	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1039G>A	17.37:g.73096797G>A	ENSP00000390564:p.Ala347Thr					SLC16A5_ENST00000538213.2_Missense_Mutation_p.A387T|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A347T|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A347T	p.A347T			O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		4	1454	+	all_lung(278;0.226)		347					B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	c.1039G>A	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579837	0.46006	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.51325	0.71;0.71;0.71	4.72	2.63	0.31362	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.289746	0.38326	N	0.001732	T	0.39172	0.1068	M	0.72894	2.215	0.26880	N	0.967566	B;B	0.30439	0.279;0.279	B;B	0.26693	0.066;0.072	T	0.23691	-1.0181	10	0.24483	T	0.36	.	5.3555	0.16059	0.1431:0.0:0.6756:0.1813	.	387;347	B4E288;O15375	.;MOT6_HUMAN	T	347;347;387	ENSP00000330141:A347T;ENSP00000390564:A347T;ENSP00000440212:A387T	ENSP00000330141:A347T	A	+	1	0	SLC16A5	70608392	0.999000	0.42202	0.355000	0.25773	0.842000	0.47809	3.272000	0.51616	0.426000	0.26116	0.561000	0.74099	GCC		0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		73	321	0	0	0	1	0	73	321					A	73096797	G	A	73096797	3	1	79	1	0	0	0	0	1	0	0	0	14461	1087	38	1	1049	1	SLC16A5	17	73096797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140766	73096797	8098413	17707	28024											
NT5C	30833	broad.mit.edu	37	chr17	73126651	73126651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcactccaggagagcaGccgtctccttgtcgggggca	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73126651G>A	ENST00000245552.2	-	5	625	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	NT5C_ENST00000582170.1_Missense_Mutation_p.A178V|NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000579082.1_5'Flank	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	180					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	CAGGAGAGCAGCCGTCTCCTT	0.617											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000582170.1																			0											c.(532-534)gCt>gTt		5', 3'-nucleotidase, cytosolic							75	71	72					17																	73126651		2203	4300	6503	SO:0001819	synonymous_variant	30833				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding	g.chr17:73126651G>A	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"5' nucleotidase, deoxy (pyrimidine), cytosolic type C", "uridine 5-prime monophosphate hydrolase 2"	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.538C>T	17.37:g.73126651G>A			OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142	NT5C_ENST00000582160.1_Silent_p.L94L|NT5C_ENST00000245552.2_Silent_p.L180L	p.A178V			Q8TCD5	NT5C_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		5	569	-	all_lung(278;0.14)|Lung NSC(278;0.168)		0					Q96HS6|Q9NP82	Missense_Mutation	SNP	ENST00000245552.2	37	c.533C>T	CCDS11715.1																																																																																				0.617	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			119	428	0	0	0	1	0	119	428					A	73126651	G	A	73126651	2	1	79	1	0	0	0	0	0	0	0	1	10726	962	34	2		2	NT5C	17	73126651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29854	73126651	8068559	17708	28025											
NUP85	79902	broad.mit.edu	37	chr17	73221213	73221213	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtgaccatcttggtgCtgcagggccggctggatgag	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73221213C>A	ENST00000245544.4	+	8	684	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000579298.1_Intron|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_Missense_Mutation_p.L37M	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	205					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATCTTGGTGCTGCAGGGCCG	0.652																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(109-111)Ctg>Atg		nucleoporin 85kDa							39	43	42					17																	73221213		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73221213C>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.613C>A	17.37:g.73221213C>A	ENSP00000245544:p.Leu205Met					NUP85_ENST00000541827.1_Missense_Mutation_p.L159M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.L93M|NUP85_ENST00000245544.4_Missense_Mutation_p.L205M|NUP85_ENST00000579298.1_Intron	p.L37M			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		7	533	+	all_lung(278;0.14)|Lung NSC(278;0.168)		205					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.109C>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728647	0.48833	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.73721	0.3623	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.74553	-0.3627	9	0.52906	T	0.07	-11.6694	18.4662	0.90755	0.0:1.0:0.0:0.0	.	205	Q9BW27	NUP85_HUMAN	M	205;159;159;37	.	ENSP00000245544:L205M	L	+	1	2	NUP85	70732808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.489000	0.66875	2.588000	0.87417	0.650000	0.86243	CTG		0.652	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		80	351	1	0	7.2426e-40	1	8.76758e-40	80	351					A	73221213	C	A	73221213	3	1	79	1	0	0	0	0	1	0	0	0	10812	796	28	3	643	3	NUP85	17	73221213	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94562	73221213	7973997	17709	28026											
NUP85	79902	broad.mit.edu	37	chr17	73231271	73231271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtcaagaagacctgtgcatgGagaatctgataccgagcagc	12	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73231271G>T	ENST00000245544.4	+	18	1915	c.1844G>T	c.(1843-1845)gGa>gTa	p.G615V	NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	615					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTGTGCATGGAGAATCTGAT	0.507																																						ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(1843-1845)gGa>gTa		nucleoporin 85kDa							181	151	161					17																	73231271		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73231271G>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1844G>T	17.37:g.73231271G>T	ENSP00000245544:p.Gly615Val					NUP85_ENST00000541827.1_Missense_Mutation_p.G569V|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.G218V|NUP85_ENST00000579324.1_Missense_Mutation_p.G503V|NUP85_ENST00000579298.1_Missense_Mutation_p.G570V	p.G615V	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		18	1915	+	all_lung(278;0.14)|Lung NSC(278;0.168)		615					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.1844G>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280888	0.23392	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000540768	.	.	.	5.12	-2.26	0.06867	.	1.114660	0.06493	N	0.734919	T	0.22475	0.0542	N	0.08118	0	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.14023	0.01;0.01	T	0.22417	-1.0217	9	0.34782	T	0.22	-0.0383	9.9975	0.41909	0.1515:0.594:0.2545:0.0	.	569;615	B4DMQ3;Q9BW27	.;NUP85_HUMAN	V	615;569;218	.	ENSP00000245544:G615V	G	+	2	0	NUP85	70742866	0.011000	0.17503	0.000000	0.03702	0.010000	0.07245	0.106000	0.15354	-0.503000	0.06586	0.462000	0.41574	GGA		0.507	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		45	236	1	0	1.23103e-26	1	1.41986e-26	45	236					T	73231271	G	T	73231271	3	4	79	1	0	0	0	0	1	0	0	0	10812	1174	41	3	1914	3	NUP85	17	73231271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10058	73231271	7963939	17710	28027											
GGA3	23163	broad.mit.edu	37	chr17	73234437	73234437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctgctcccccagggCgaaggtcagcttataccgaa	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73234437C>T	ENST00000245541.6	-	17	2311	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GGA3_ENST00000351904.7_Missense_Mutation_p.A666T|GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000582486.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	699	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				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)			TCCCCCAGGGCGAAGGTCAGC	0.627											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245541.6																			0				breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(2095-2097)Gcc>Acc		golgi-associated, gamma adaptin ear containing, ARF binding protein 3							71	60	64					17																	73234437		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73234437C>T	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.2095G>A	17.37:g.73234437C>T	ENSP00000245541:p.Ala699Thr		OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1143	GGA3_ENST00000538886.1_Missense_Mutation_p.A577T|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000582717.1_Missense_Mutation_p.A627T|GGA3_ENST00000351904.7_Missense_Mutation_p.A666T	p.A699T	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		17	2311	-			699			GAE.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.2095G>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	7.410	0.634461	0.14322	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.38887	1.11;1.11;1.11	5.08	4.08	0.47627	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.463089	0.25601	N	0.029542	T	0.09113	0.0225	N	0.00151	-1.98	0.80722	D	1	B;B	0.20368	0.044;0.031	B;B	0.10450	0.003;0.005	T	0.19745	-1.0296	10	0.06757	T	0.87	-8.533	9.4961	0.38989	0.0:0.8053:0.0:0.1947	.	666;699	Q9NZ52-2;Q9NZ52	.;GGA3_HUMAN	T	699;666;627;577	ENSP00000245541:A699T;ENSP00000326575:A666T;ENSP00000446421:A577T	ENSP00000245541:A699T	A	-	1	0	GGA3	70746032	0.908000	0.30866	0.995000	0.50966	0.983000	0.72400	1.007000	0.29860	1.293000	0.44690	0.563000	0.77884	GCC		0.627	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		59	234	0	0	0	1	0	59	234					T	73234437	C	T	73234437	3	4	79	1	0	0	0	0	1	0	0	0	6383	768	27	1	168	1	GGA3	17	73234437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3166	73234437	7960773	17711	28028											
GGA3	23163	broad.mit.edu	37	chr17	73239206	73239206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtggtggagaggggatcaGcgtcctatccacaggaattg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73239206G>T	ENST00000245541.6	-	6	682	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M|GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	156	Binds to ARF1 (in long isoform).				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GAGGGGATCAGCGTCCTATCC	0.547																																						ENST00000245541.6																			0				breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(466-468)Ctg>Atg		golgi-associated, gamma adaptin ear containing, ARF binding protein 3							223	186	198					17																	73239206		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73239206G>T	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.466C>A	17.37:g.73239206G>T	ENSP00000245541:p.Leu156Met					GGA3_ENST00000538886.1_Missense_Mutation_p.L34M|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000578348.1_Missense_Mutation_p.L34M|GGA3_ENST00000582486.1_Missense_Mutation_p.L84M|GGA3_ENST00000582717.1_Missense_Mutation_p.L84M|GGA3_ENST00000351904.7_Missense_Mutation_p.L123M	p.L156M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		6	682	-			156			Binds to ARF1 (in long isoform).		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.466C>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166671	0.38217	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.52295	2.04;0.67	4.85	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.63141	0.2486	M	0.63843	1.955	0.80722	D	1	D;P;D	0.89917	1.0;0.723;0.988	D;P;P	0.87578	0.998;0.64;0.798	T	0.61407	-0.7069	10	0.33141	T	0.24	-16.506	13.0458	0.58925	0.0775:0.0:0.9225:0.0	.	34;123;156	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	156;123;84;34	ENSP00000245541:L156M;ENSP00000326575:L123M	ENSP00000245541:L156M	L	-	1	2	GGA3	70750801	0.999000	0.42202	0.986000	0.45419	0.984000	0.73092	2.840000	0.48215	1.256000	0.44068	0.563000	0.77884	CTG		0.547	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		94	444	1	0	5.30763e-54	1	6.62094e-54	94	444					T	73239206	G	T	73239206	3	4	79	1	0	0	0	0	1	0	0	0	6383	962	34	3	1841	3	GGA3	17	73239206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4769	73239206	7956004	17712	28029											
KIAA0195	9772	broad.mit.edu	37	chr17	73492836	73492836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatgccacctatggcatccGtaagtgcttcctcttcctgc	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73492836G>A	ENST00000314256.7	+	25	3663	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H|KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1090						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATGGCATCCGTAAGTGCTTC	0.607																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3268-3270)cGt>cAt		KIAA0195							120	111	114					17																	73492836		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73492836G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3269G>A	17.37:g.73492836G>A	ENSP00000313885:p.Arg1090His					KIAA0195_ENST00000579208.1_Missense_Mutation_p.R741H|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1100H	p.R1090H	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		25	3663	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1090					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3269G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852943	0.71719	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.89681	-2.55;-2.55	6.04	6.04	0.98038	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92828	0.7719	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.985;1.0	D;D;P;D	0.87578	0.994;0.998;0.604;0.996	D	0.91800	0.5451	10	0.48119	T	0.1	-21.4522	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1100;1100;1090;1090	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	H	1090;1100	ENSP00000313885:R1090H;ENSP00000364397:R1100H	ENSP00000313885:R1090H	R	+	2	0	KIAA0195	71004431	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.834000	0.92094	2.873000	0.98535	0.561000	0.74099	CGT		0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		69	576	0	0	0	1	0	69	576					A	73492836	G	A	73492836	3	1	79	1	0	0	0	0	1	0	0	0	8190	1145	40	1	3363	1	KIAA0195	17	73492836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253630	73492836	7702374	17713	28030											
KIAA0195	9772	broad.mit.edu	37	chr17	73494356	73494356	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcagagcttctgtgacaGctcccgggaccgcaacctca	10	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494356G>T	ENST00000314256.7	+	28	3984	c.3590G>T	c.(3589-3591)aGc>aTc	p.S1197I	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I|KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1197						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGTGACAGCTCCCGGGAC	0.612																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3589-3591)aGc>aTc		KIAA0195							107	85	92					17																	73494356		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73494356G>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3590G>T	17.37:g.73494356G>T	ENSP00000313885:p.Ser1197Ile					KIAA0195_ENST00000579208.1_Missense_Mutation_p.S848I|KIAA0195_ENST00000375248.5_Missense_Mutation_p.S1207I	p.S1197I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		28	3984	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1197					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3590G>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223097	0.09863	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96300	-3.97;-3.97	5.58	2.12	0.27331	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.295187	0.38897	N	0.001525	D	0.83184	0.5199	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.12630	0.0;0.001;0.006;0.001	B;B;B;B	0.11329	0.001;0.001;0.006;0.001	T	0.72121	-0.4386	10	0.16420	T	0.52	-15.048	1.103	0.01688	0.1932:0.1406:0.3847:0.2815	.	1207;1207;1197;1197	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	I	1197;1207	ENSP00000313885:S1197I;ENSP00000364397:S1207I	ENSP00000313885:S1197I	S	+	2	0	KIAA0195	71005951	0.013000	0.17824	0.950000	0.38849	0.072000	0.16883	0.325000	0.19628	1.370000	0.46153	0.313000	0.20887	AGC		0.612	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		76	317	1	0	2.73218e-42	1	3.32585e-42	76	317					T	73494356	G	T	73494356	3	4	79	1	0	0	0	0	1	0	0	0	8190	971	34	3	3696	3	KIAA0195	17	73494356	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1520	73494356	7700854	17714	28031											
KIAA0195	9772	broad.mit.edu	37	chr17	73494598	73494598	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctcagaagctcacggccGccctgattgtcctgcacact	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494598G>A	ENST00000314256.7	+	29	4106	c.3712G>A	c.(3712-3714)Gcc>Acc	p.A1238T	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1238						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACGGCCGCCCTGATTGT	0.632																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3712-3714)Gcc>Acc		KIAA0195							72	66	68					17																	73494598		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73494598G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3712G>A	17.37:g.73494598G>A	ENSP00000313885:p.Ala1238Thr					KIAA0195_ENST00000579208.1_Missense_Mutation_p.A889T|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1248T	p.A1238T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		29	4106	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1238					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3712G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823393	0.50739	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96232	-3.95;-3.95	5.26	4.3	0.51218	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.185058	0.45606	N	0.000351	D	0.88175	0.6366	N	0.11427	0.14	0.35385	D	0.790261	P;P;B;P	0.48162	0.906;0.792;0.002;0.826	B;B;B;B	0.37650	0.255;0.063;0.001;0.104	D	0.88180	0.2870	10	0.21540	T	0.41	-20.8489	8.6701	0.34145	0.0762:0.0:0.7733:0.1505	.	1248;1248;1238;1238	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	T	1238;1248	ENSP00000313885:A1238T;ENSP00000364397:A1248T	ENSP00000313885:A1238T	A	+	1	0	KIAA0195	71006193	0.989000	0.36119	0.871000	0.34182	0.991000	0.79684	2.266000	0.43320	1.217000	0.43442	0.467000	0.42956	GCC		0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		52	221	0	0	0	1	0	52	221					A	73494598	G	A	73494598	3	1	79	1	0	0	0	0	1	0	0	0	8190	1087	38	1	3822	1	KIAA0195	17	73494598	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242	73494598	7700612	17715	28032											
KIAA0195	9772	broad.mit.edu	37	chr17	73495073	73495073	+	Missense_Mutation	SNP	A	A	G													ccacgtccactttggcctggAggacgtgcccctgctgacat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495073A>G	ENST00000314256.7	+	31	4302	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1303						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTTGGCCTGGAGGACGTGCCC	0.632																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3907-3909)gAg>gGg		KIAA0195							97	76	83					17																	73495073		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73495073A>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3908A>G	17.37:g.73495073A>G	ENSP00000313885:p.Glu1303Gly					KIAA0195_ENST00000579208.1_Missense_Mutation_p.E954G|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E1313G	p.E1303G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		31	4302	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1303					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3908A>G	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311005	0.40895	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.95980	-3.87;-3.87	5.88	3.6	0.41247	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.432209	0.25267	N	0.031907	D	0.82820	0.5120	N	0.01705	-0.755	0.21719	N	0.999576	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.70722	-0.4794	10	0.13108	T	0.6	-14.9627	6.6047	0.22720	0.7138:0.1475:0.1387:0.0	.	1313;1313;1333;1303	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	G	1303;1313	ENSP00000313885:E1303G;ENSP00000364397:E1313G	ENSP00000313885:E1303G	E	+	2	0	KIAA0195	71006668	0.445000	0.25657	1.000000	0.80357	0.955000	0.61496	1.345000	0.33953	2.246000	0.74042	0.533000	0.62120	GAG		0.632	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		12	321	0	0	0	1	0	12	321					G	73495073	A	G	73495073	3	3	79	1	0	0	0	0	1	0	0	0	8190	304	11	4	4026	4	KIAA0195	17	73495073	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	475	73495073	7700137	17716	28033	178	2									
KIAA0195	9772	broad.mit.edu	37	chr17	73495078	73495078	+	Missense_Mutation	SNP	G	G	A													tccactttggcctggaggacGtgcccctgctgacatggctc					rs370635593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495078G>A	ENST00000314256.7	+	31	4307	c.3913G>A	c.(3913-3915)Gtg>Atg	p.V1305M	AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M|KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1305						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGAGGACGTGCCCCTGCT	0.622																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(3913-3915)Gtg>Atg		KIAA0195		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102	79	87		3913	5.9	1	17		87	0,8600		0,0,4300	no	missense	KIAA0195	NM_014738.4	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1305/1357	73495078	1,13005	2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73495078G>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3913G>A	17.37:g.73495078G>A	ENSP00000313885:p.Val1305Met					KIAA0195_ENST00000579208.1_Missense_Mutation_p.V956M|KIAA0195_ENST00000375248.5_Missense_Mutation_p.V1315M	p.V1305M	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		31	4307	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1305					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.3913G>A	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672607	0.47781	2.27E-4	0.0	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.96011	-3.88;-3.88	5.88	5.88	0.94601	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.062160	0.64402	D	0.000012	D	0.93390	0.7892	N	0.22421	0.69	0.46078	D	0.998854	P;D;D;D	0.61080	0.952;0.986;0.977;0.989	P;P;P;P	0.55923	0.714;0.681;0.591;0.787	D	0.92320	0.5865	10	0.62326	D	0.03	-22.7561	7.7162	0.28706	0.1903:0.0:0.8097:0.0	.	1315;1315;1335;1305	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	M	1305;1315	ENSP00000313885:V1305M;ENSP00000364397:V1315M	ENSP00000313885:V1305M	V	+	1	0	KIAA0195	71006673	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	4.945000	0.63568	2.782000	0.95742	0.655000	0.94253	GTG		0.622	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		35	303	0	0	0	1	0	35	303					A	73495078	G	A	73495078	3	1	79	1	0	0	0	0	1	0	0	0	8190	1145	40	1	4031	1	KIAA0195	17	73495078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	73495078	7700132	17717	28034	178	2									
CASKIN2	57513	broad.mit.edu	37	chr17	73497582	73497582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccaatgctcttctctGcggctctcagtgcagctgcc	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73497582G>A	ENST00000321617.3	-	19	4071	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm (GO:0005737)		p.L1159_A1162del(1)		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)			GCTCTTCTCTGCGGCTCTCAG	0.657																																						ENST00000321617.3																			1	Deletion - In frame(1)	p.L1159_A1162del(1)	pancreas(1)	endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3484-3486)gCa>gTa		CASK interacting protein 2							69	79	75					17																	73497582		2194	4263	6457	SO:0001583	missense	57513					cytoplasm		g.chr17:73497582G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3485C>T	17.37:g.73497582G>A	ENSP00000325355:p.Ala1162Val					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080V	p.A1162V	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	4071	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1162					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.3485C>T	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645679	0.47258	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.52983	0.64;0.79	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000293	T	0.28267	0.0698	N	0.13043	0.29	0.80722	D	1	B	0.27765	0.188	B	0.29267	0.1	T	0.10894	-1.0610	10	0.06365	T	0.9	.	12.9176	0.58214	0.0741:0.0:0.9259:0.0	.	1162	Q8WXE0	CSKI2_HUMAN	V	1162;1080	ENSP00000325355:A1162V;ENSP00000406963:A1080V	ENSP00000325355:A1162V	A	-	2	0	CASKIN2	71009177	1.000000	0.71417	0.825000	0.32803	0.914000	0.54420	5.221000	0.65272	2.641000	0.89580	0.591000	0.81541	GCA		0.657	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		175	733	0	0	0	1	0	175	733					A	73497582	G	A	73497582	3	1	79	1	0	0	0	0	1	0	0	0	2674	1319	46	2	131	2	CASKIN2	17	73497582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2504	73497582	7697628	17718	28035											
CASKIN2	57513	broad.mit.edu	37	chr17	73498457	73498457	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgccttcggggccctgTggccccttccttgggccctg	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73498457T>C	ENST00000321617.3	-	18	3284	c.2698A>G	c.(2698-2700)Aca>Gca	p.T900A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	900	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)			CGGGGCCCTGTGGCCCCTTCC	0.731																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2698-2700)Aca>Gca		CASK interacting protein 2							4	5	4					17																	73498457		1946	3872	5818	SO:0001583	missense	57513					cytoplasm		g.chr17:73498457T>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2698A>G	17.37:g.73498457T>C	ENSP00000325355:p.Thr900Ala					CASKIN2_ENST00000433559.2_Missense_Mutation_p.T818A	p.T900A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	3284	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		900			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2698A>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.384394	0.01194	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69175	-0.38;-0.2	4.87	-9.73	0.00512	.	1.558810	0.04076	N	0.308754	T	0.44932	0.1317	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.24483	T	0.36	.	3.5114	0.07709	0.132:0.097:0.2668:0.5041	.	900	Q8WXE0	CSKI2_HUMAN	A	900;818	ENSP00000325355:T900A;ENSP00000406963:T818A	ENSP00000325355:T900A	T	-	1	0	CASKIN2	71010052	0.000000	0.05858	0.000000	0.03702	0.810000	0.45777	-2.834000	0.00741	-4.320000	0.00056	-0.723000	0.03601	ACA		0.731	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		6	56	0	0	0	1	0	6	56					C	73498457	T	C	73498457	3	2	79	1	0	0	0	0	1	0	0	0	2674	1696	59	4	922	4	CASKIN2	17	73498457	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	875	73498457	7696753	17719	28036											
CASKIN2	57513	broad.mit.edu	37	chr17	73499216	73499216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttctccagtccctcgatggCcatcagctccggacccttgg	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73499216C>T	ENST00000321617.3	-	18	2525	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	647						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)			CCCTCGATGGCCATCAGCTCC	0.701																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1939-1941)Gcc>Acc		CASK interacting protein 2							15	13	14					17																	73499216		2195	4286	6481	SO:0001583	missense	57513					cytoplasm		g.chr17:73499216C>T	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.1939G>A	17.37:g.73499216C>T	ENSP00000325355:p.Ala647Thr					CASKIN2_ENST00000433559.2_Missense_Mutation_p.A565T	p.A647T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2525	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		647					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.1939G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163119	0.57476	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.71698	-0.59;-0.41	5.47	3.48	0.39840	.	0.145311	0.31747	N	0.007130	T	0.60971	0.2310	L	0.50333	1.59	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.54105	-0.8343	10	0.34782	T	0.22	.	8.4734	0.32999	0.0:0.7039:0.0:0.2961	.	647	Q8WXE0	CSKI2_HUMAN	T	647;565	ENSP00000325355:A647T;ENSP00000406963:A565T	ENSP00000325355:A647T	A	-	1	0	CASKIN2	71010811	0.999000	0.42202	1.000000	0.80357	0.921000	0.55340	0.742000	0.26216	0.680000	0.31366	0.655000	0.94253	GCC		0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		10	91	0	0	0	1	0	10	91					T	73499216	C	T	73499216	3	4	79	1	0	0	0	0	1	0	0	0	2674	739	26	2	1681	2	CASKIN2	17	73499216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	759	73499216	7695994	17720	28037											
CASKIN2	57513	broad.mit.edu	37	chr17	73500901	73500901	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggaggatgtacctgggctgTctgggctgaggcccacccga	17	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73500901T>C	ENST00000321617.3	-	11	1770	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	395						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)			ACCTGGGCTGTCTGGGCTGAG	0.672																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(1183-1185)gAc>gGc		CASK interacting protein 2							31	27	28					17																	73500901		2203	4298	6501	SO:0001583	missense	57513					cytoplasm		g.chr17:73500901T>C	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.1184A>G	17.37:g.73500901T>C	ENSP00000325355:p.Asp395Gly					CASKIN2_ENST00000433559.2_Missense_Mutation_p.D313G	p.D395G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	1770	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		395					B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.1184A>G	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885184	0.72410	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.69435	-0.4;-0.23	4.8	4.8	0.61643	.	0.326389	0.22124	N	0.064290	T	0.46190	0.1380	N	0.24115	0.695	0.80722	D	1	P	0.43750	0.816	B	0.36378	0.223	T	0.40040	-0.9584	10	0.19147	T	0.46	.	10.1333	0.42691	0.0:0.0:0.1677:0.8323	.	395	Q8WXE0	CSKI2_HUMAN	G	395;313	ENSP00000325355:D395G;ENSP00000406963:D313G	ENSP00000325355:D395G	D	-	2	0	CASKIN2	71012496	.	.	1.000000	0.80357	0.994000	0.84299	.	.	2.020000	0.59435	0.459000	0.35465	GAC		0.672	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		29	127	0	0	0	1	0	29	127					C	73500901	T	C	73500901	3	2	79	1	0	0	0	0	1	0	0	0	2674	1667	58	4	2464	4	CASKIN2	17	73500901	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1685	73500901	7694309	17721	28038											
TSEN54	283989	broad.mit.edu	37	chr17	73512857	73512857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcgccgcccgctcgcgGtcgcagaagctgccccagcg	12	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73512857G>A	ENST00000333213.6	+	2	123	c.87G>A	c.(85-87)cgG>cgA	p.R29R	TSEN54_ENST00000580013.1_3'UTR|CASKIN2_ENST00000581870.1_5'Flank|CASKIN2_ENST00000321617.3_5'Flank	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	29					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCGCTCGCGGTCGCAGAAGC	0.771																																						ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(85-87)cgG>cgA		TSEN54 tRNA splicing endonuclease subunit							7	9	8					17																	73512857		1419	3248	4667	SO:0001819	synonymous_variant	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73512857G>A	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.87G>A	17.37:g.73512857G>A						TSEN54_ENST00000580013.1_3'UTR	p.R29R	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	123	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		29					Q86WV3|Q86XE4|Q8N9H2	Silent	SNP	ENST00000333213.6	37	c.87G>A	CCDS11724.1																																																																																				0.771	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		7	97	0	0	0	1	0	7	97					A	73512857	G	A	73512857	2	1	79	1	0	0	0	0	0	0	0	1	16667	1248	44	2		2	TSEN54	17	73512857	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11956	73512857	7682353	17722	28039											
TSEN54	283989	broad.mit.edu	37	chr17	73517527	73517527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgagaggcagcttaacctgGatgccagcgtgcagcacttg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73517527G>A	ENST00000333213.6	+	7	595	c.559G>A	c.(559-561)Gat>Aat	p.D187N		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	187					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTAACCTGGATGCCAGCGT	0.627																																						ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(559-561)Gat>Aat		TSEN54 tRNA splicing endonuclease subunit							91	80	84					17																	73517527		2203	4300	6503	SO:0001583	missense	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73517527G>A	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.559G>A	17.37:g.73517527G>A	ENSP00000327487:p.Asp187Asn						p.D187N	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	595	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		187					Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	c.559G>A	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979469	0.34942	.	.	ENSG00000182173	ENST00000434205;ENST00000333213	T	0.57436	0.4	5.63	3.62	0.41486	.	0.277358	0.40818	N	0.001015	T	0.58235	0.2108	M	0.62723	1.935	0.33845	D	0.631864	D	0.57899	0.981	P	0.51701	0.677	T	0.70317	-0.4905	10	0.51188	T	0.08	-9.0635	11.425	0.50004	0.0682:0.1264:0.8054:0.0	.	187	Q7Z6J9	SEN54_HUMAN	N	86;187	ENSP00000327487:D187N	ENSP00000327487:D187N	D	+	1	0	TSEN54	71029122	1.000000	0.71417	0.985000	0.45067	0.494000	0.33585	3.460000	0.53028	0.723000	0.32274	0.655000	0.94253	GAT		0.627	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		61	278	0	0	0	1	0	61	278					A	73517527	G	A	73517527	3	1	79	1	0	0	0	0	1	0	0	0	16667	1174	41	2	585	2	TSEN54	17	73517527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4670	73517527	7677683	17723	28040											
TSEN54	283989	broad.mit.edu	37	chr17	73518145	73518145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcccggccaacgtggCtgggcgggagacagacgctg	17	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73518145C>T	ENST00000333213.6	+	8	1019	c.983C>T	c.(982-984)gCt>gTt	p.A328V		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	328					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCAACGTGGCTGGGCGGGAG	0.672																																						ENST00000333213.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13						c.(982-984)gCt>gTt		TSEN54 tRNA splicing endonuclease subunit							16	14	15					17																	73518145		2190	4286	6476	SO:0001583	missense	283989				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus		g.chr17:73518145C>T	AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.983C>T	17.37:g.73518145C>T	ENSP00000327487:p.Ala328Val						p.A328V	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1019	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		328					Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	c.983C>T	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842806	0.32606	.	.	ENSG00000182173	ENST00000333213	T	0.58210	0.35	5.33	3.34	0.38264	.	0.768822	0.12434	N	0.469320	T	0.43809	0.1264	L	0.50333	1.59	0.09310	N	0.999999	B	0.22480	0.07	B	0.18561	0.022	T	0.29882	-0.9997	10	0.12430	T	0.62	1.1449	10.9413	0.47275	0.0:0.8465:0.0:0.1535	.	328	Q7Z6J9	SEN54_HUMAN	V	328	ENSP00000327487:A328V	ENSP00000327487:A328V	A	+	2	0	TSEN54	71029740	0.000000	0.05858	0.043000	0.18650	0.715000	0.41141	-0.025000	0.12413	0.607000	0.29982	0.561000	0.74099	GCT		0.672	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1	NM_207346		5	36	0	0	0	1	0	5	36					T	73518145	C	T	73518145	3	4	79	1	0	0	0	0	1	0	0	0	16667	797	28	2	1013	2	TSEN54	17	73518145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	618	73518145	7677065	17724	28041											
LLGL2	3993	broad.mit.edu	37	chr17	73560573	73560573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcactgtcctcacagagGcagaccctgcagccagtagg	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73560573G>A	ENST00000392550.3	+	10	1138	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	341					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCACAGAGGCAGACCCTGC	0.622																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1021-1023)Gca>Aca		lethal giant larvae homolog 2 (Drosophila)							41	41	41					17																	73560573		2202	4300	6502	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73560573G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1021G>A	17.37:g.73560573G>A	ENSP00000376333:p.Ala341Thr					LLGL2_ENST00000578363.1_Missense_Mutation_p.A341T|LLGL2_ENST00000167462.5_Missense_Mutation_p.A341T|LLGL2_ENST00000375227.4_Missense_Mutation_p.A341T|LLGL2_ENST00000577200.1_Missense_Mutation_p.A341T	p.A341T	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		10	1138	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		341					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1021G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588842	0.46110	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.27256	2.77;2.77;1.68	4.89	4.89	0.63831	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.496878	0.23571	N	0.046747	T	0.11537	0.0281	N	0.08118	0	0.29145	N	0.878746	B;B;B;B;B	0.28128	0.201;0.167;0.001;0.002;0.004	B;B;B;B;B	0.31946	0.138;0.085;0.004;0.007;0.005	T	0.21008	-1.0258	10	0.02654	T	1	-1.1271	10.0042	0.41946	0.0:0.1377:0.7013:0.161	.	330;330;341;341;341	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	T	341;341;341;330	ENSP00000167462:A341T;ENSP00000376333:A341T;ENSP00000364375:A341T	ENSP00000167462:A341T	A	+	1	0	LLGL2	71072168	1.000000	0.71417	0.994000	0.49952	0.110000	0.19582	4.457000	0.60088	2.543000	0.85770	0.561000	0.74099	GCA		0.622	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		58	297	0	0	0	1	0	58	297					A	73560573	G	A	73560573	3	1	79	1	0	0	0	0	1	0	0	0	8867	1203	42	2	1055	2	LLGL2	17	73560573	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42428	73560573	7634637	17725	28042											
LLGL2	3993	broad.mit.edu	37	chr17	73566151	73566151	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgctggaaggggcacgagcgCctggcagcccgctcagggcc	17	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566151C>A	ENST00000392550.3	+	15	1806	c.1689C>A	c.(1687-1689)cgC>cgA	p.R563R	LLGL2_ENST00000577200.1_Silent_p.R563R|LLGL2_ENST00000167462.5_Silent_p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	563					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACGAGCGCCTGGCAGCCC	0.667																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1687-1689)cgC>cgA		lethal giant larvae homolog 2 (Drosophila)							29	28	28					17																	73566151		2200	4299	6499	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566151C>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1689C>A	17.37:g.73566151C>A						LLGL2_ENST00000167462.5_Silent_p.R563R|LLGL2_ENST00000577200.1_Silent_p.R563R	p.R563R	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	1806	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		563					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.1689C>A	CCDS32733.1																																																																																				0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		26	128	1	0	3.28513e-13	1	3.54196e-13	26	128					A	73566151	C	A	73566151	2	1	79	1	0	0	0	0	0	0	0	1	8867	726	26	3		3	LLGL2	17	73566151	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5578	73566151	7629059	17726	28043											
LLGL2	3993	broad.mit.edu	37	chr17	73566533	73566533	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attccgccggatgcgtcggaGccgggtgtccagccggaagc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566533G>T	ENST00000392550.3	+	16	2096	c.1979G>T	c.(1978-1980)aGc>aTc	p.S660I	LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I|LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	660					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGCGTCGGAGCCGGGTGTCC	0.692																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1978-1980)aGc>aTc		lethal giant larvae homolog 2 (Drosophila)							21	19	20					17																	73566533		2189	4288	6477	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566533G>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1979G>T	17.37:g.73566533G>T	ENSP00000376333:p.Ser660Ile					LLGL2_ENST00000167462.5_Missense_Mutation_p.S660I|LLGL2_ENST00000577200.1_Missense_Mutation_p.S660I	p.S660I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2096	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		660					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1979G>T	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147517	0.37923	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.65364	-0.15;-0.15	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	M	0.76328	2.33	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.991;0.999;1.0;1.0;0.999	P;D;D;D;D	0.87578	0.872;0.996;0.998;0.993;0.979	T	0.82030	-0.0659	10	0.62326	D	0.03	-0.551	18.2389	0.89960	0.0:0.0:1.0:0.0	.	287;649;649;660;660	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	I	660;660;649	ENSP00000167462:S660I;ENSP00000376333:S660I	ENSP00000167462:S660I	S	+	2	0	LLGL2	71078128	1.000000	0.71417	0.937000	0.37676	0.141000	0.21300	9.801000	0.99128	2.314000	0.78098	0.549000	0.68633	AGC		0.692	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		10	43	1	0	3.86212e-05	1	3.93988e-05	10	43					T	73566533	G	T	73566533	3	4	79	1	0	0	0	0	1	0	0	0	8867	971	34	3	2072	3	LLGL2	17	73566533	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	382	73566533	7628677	17727	28044											
ITGB4	3691	broad.mit.edu	37	chr17	73723936	73723936	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagatggggcagaacctgGgtacggcagggccagagtgg	19	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73723936G>A	ENST00000200181.3	+	5	656	c.469G>A	c.(469-471)Gct>Act	p.A157T	ITGB4_ENST00000450894.3_Splice_Site_p.A157T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Splice_Site_p.A157T|ITGB4_ENST00000579662.1_Splice_Site_p.A157T|ITGB4_ENST00000339591.3_Splice_Site_p.A157T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	157	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)			GCAGAACCTGGGTACGGCAGG	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.e5+1		integrin, beta 4							50	49	49					17																	73723936		2203	4300	6503	SO:0001630	splice_region_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73723936G>A		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.469+1G>A	17.37:g.73723936G>A						ITGB4_ENST00000339591.3_Splice_Site_p.A157_splice|ITGB4_ENST00000579662.1_Splice_Site_p.A157_splice|ITGB4_ENST00000450894.3_Splice_Site_p.A157_splice|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Splice_Site_p.A157_splice	p.A157_splice	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		5	656	+	all_cancers(13;1.5e-07)		157			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Splice_Site	SNP	ENST00000200181.3	37	c.469_splice	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799179	0.50208	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97850	-4.57;-4.57;-4.57	5.31	5.31	0.75309	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.77313	2.365	0.80722	D	1	P;P;D;D	0.71674	0.928;0.875;0.998;0.998	P;P;D;D	0.72338	0.672;0.581;0.977;0.977	D	0.99840	1.1061	10	0.87932	D	0	.	18.9824	0.92760	0.0:0.0:1.0:0.0	.	157;157;157;157	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	T	73;157;157;157	ENSP00000200181:A157T;ENSP00000344079:A157T;ENSP00000400217:A157T	ENSP00000200181:A157T	A	+	1	0	ITGB4	71235531	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	9.467000	0.97671	2.500000	0.84329	0.591000	0.81541	GCT		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		Missense_Mutation	29	135	0	0	0	1	0	29	135					A	73723936	G	A	73723936	5	1	79	1	0	0	0	0	0	0	1	0	7927	1246	43	2	483	2	ITGB4	17	73723936	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157403	73723936	7471274	17728	28045											
ITGB4	3691	broad.mit.edu	37	chr17	73726545	73726545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccaagcacaacatcatccCcatctttgctgtcaccaact	4	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73726545C>A	ENST00000200181.3	+	8	1149	c.962C>A	c.(961-963)cCc>cAc	p.P321H	ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H|ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	321	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)			AACATCATCCCCATCTTTGCT	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(961-963)cCc>cAc		integrin, beta 4							144	108	120					17																	73726545		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73726545C>A		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.962C>A	17.37:g.73726545C>A	ENSP00000200181:p.Pro321His					ITGB4_ENST00000339591.3_Missense_Mutation_p.P321H|ITGB4_ENST00000579662.1_Missense_Mutation_p.P321H|ITGB4_ENST00000450894.3_Missense_Mutation_p.P321H|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.P321H	p.P321H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1149	+	all_cancers(13;1.5e-07)		321			VWFA.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.962C>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004601	0.54254	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97688	-4.49;-4.49;-4.49	5.6	5.6	0.85130	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.92459	3.31	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;1.0	D	0.99433	1.0936	10	0.87932	D	0	.	19.6008	0.95560	0.0:1.0:0.0:0.0	.	321;321;321;321	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	H	237;321;321;321	ENSP00000200181:P321H;ENSP00000344079:P321H;ENSP00000400217:P321H	ENSP00000200181:P321H	P	+	2	0	ITGB4	71238140	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.673000	0.83973	2.632000	0.89209	0.563000	0.77884	CCC		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			74	433	1	0	6.44082e-31	1	7.56849e-31	74	433					A	73726545	C	A	73726545	3	1	79	1	0	0	0	0	1	0	0	0	7927	623	22	3	988	3	ITGB4	17	73726545	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2609	73726545	7468665	17729	28046											
ITGB4	3691	broad.mit.edu	37	chr17	73727036	73727036	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggagctgctggaggaGgccttcaatgtgagggcagc	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73727036G>T	ENST00000200181.3	+	9	1270	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	361					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)			TGCTGGAGGAGGCCTTCAATG	0.617																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1081-1083)gaG>gaT		integrin, beta 4							81	82	82					17																	73727036		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73727036G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1083G>T	17.37:g.73727036G>T	ENSP00000200181:p.Glu361Asp					ITGB4_ENST00000339591.3_Missense_Mutation_p.E361D|ITGB4_ENST00000579662.1_Missense_Mutation_p.E361D|ITGB4_ENST00000450894.3_Missense_Mutation_p.E361D|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.E361D	p.E361D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		9	1270	+	all_cancers(13;1.5e-07)		361					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1083G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861215	0.32884	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.97553	-4.43;-4.43;-4.43	5.42	-3.46	0.04767	Integrin beta subunit, N-terminal (2);	0.679936	0.14303	N	0.328121	D	0.92789	0.7707	N	0.22421	0.69	0.23859	N	0.996646	B;P;P;D	0.55800	0.097;0.929;0.942;0.973	B;B;P;P	0.53401	0.099;0.399;0.634;0.725	D	0.87441	0.2395	10	0.24483	T	0.36	.	3.4322	0.07433	0.3887:0.0992:0.411:0.101	.	361;361;361;361	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	D	277;361;361;361	ENSP00000200181:E361D;ENSP00000344079:E361D;ENSP00000400217:E361D	ENSP00000200181:E361D	E	+	3	2	ITGB4	71238631	0.062000	0.20869	0.993000	0.49108	0.945000	0.59286	-0.468000	0.06656	-0.199000	0.10317	0.557000	0.71058	GAG		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			106	444	1	0	2.54621e-43	1	3.10758e-43	106	444					T	73727036	G	T	73727036	3	4	79	1	0	0	0	0	1	0	0	0	7927	991	35	3	1113	3	ITGB4	17	73727036	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491	73727036	7468174	17730	28047											
ITGB4	3691	broad.mit.edu	37	chr17	73745092	73745092	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggggcccacctgggccaGccccactccaccaccatcat	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73745092G>T	ENST00000200181.3	+	27	3469	c.3282G>T	c.(3280-3282)caG>caT	p.Q1094H	ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1094					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)			ACCTGGGCCAGCCCCACTCCA	0.637																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(3280-3282)caG>caT		integrin, beta 4							27	30	29					17																	73745092		2202	4300	6502	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73745092G>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3282G>T	17.37:g.73745092G>T	ENSP00000200181:p.Gln1094His					ITGB4_ENST00000339591.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000579662.1_Missense_Mutation_p.Q1094H|ITGB4_ENST00000450894.3_Missense_Mutation_p.Q1094H|ITGB4_ENST00000449880.2_Missense_Mutation_p.Q1094H	p.Q1094H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		27	3469	+	all_cancers(13;1.5e-07)		1094					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3282G>T	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899867	0.33535	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.27402	1.67;1.67;1.67	5.45	-1.39	0.08997	.	0.230210	0.37348	N	0.002134	T	0.21227	0.0511	N	0.24115	0.695	0.30210	N	0.797787	P;P;P	0.51057	0.941;0.744;0.835	P;B;P	0.50860	0.652;0.252;0.45	T	0.17077	-1.0381	10	0.72032	D	0.01	.	2.7314	0.05228	0.5264:0.1284:0.2149:0.1304	.	1094;1094;1094	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	H	1094	ENSP00000200181:Q1094H;ENSP00000344079:Q1094H;ENSP00000400217:Q1094H	ENSP00000200181:Q1094H	Q	+	3	2	ITGB4	71256687	0.422000	0.25473	0.998000	0.56505	0.939000	0.58152	-0.305000	0.08188	0.041000	0.15688	0.650000	0.86243	CAG		0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			22	141	1	0	6.36457e-07	1	6.58826e-07	22	141					T	73745092	G	T	73745092	3	4	79	1	0	0	0	0	1	0	0	0	7927	962	34	3	3384	3	ITGB4	17	73745092	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18056	73745092	7450118	17731	28048											
ITGB4	3691	broad.mit.edu	37	chr17	73752585	73752585	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agacctcctgcccaaccactCctacgtgttccgcgtgcggg	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73752585C>A	ENST00000200181.3	+	36	4971	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1595	Fibronectin type-III 3. {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)			CCCAACCACTCCTACGTGTTC	0.657																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4783-4785)tCc>tAc		integrin, beta 4							104	106	105					17																	73752585		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73752585C>A		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.4784C>A	17.37:g.73752585C>A	ENSP00000200181:p.Ser1595Tyr					ITGB4_ENST00000339591.3_Missense_Mutation_p.S1578Y|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1525Y|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1525Y|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1578Y	p.S1595Y	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		36	4971	+	all_cancers(13;1.5e-07)		1595			Fibronectin type-III 3.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.4784C>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.153050	0.57259	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.58210	0.35;0.35;0.35	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.78049	2.395	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	0.77981	-0.2383	10	0.87932	D	0	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	1578;1525;1595	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	Y	1595;1578;1578	ENSP00000200181:S1595Y;ENSP00000344079:S1578Y;ENSP00000400217:S1578Y	ENSP00000200181:S1595Y	S	+	2	0	ITGB4	71264180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.590000	0.87494	0.455000	0.32223	TCC		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			117	625	1	0	6.42063e-57	1	8.038e-57	117	625					A	73752585	C	A	73752585	3	1	79	1	0	0	0	0	1	0	0	0	7927	855	30	3	5085	3	ITGB4	17	73752585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7493	73752585	7442625	17732	28049											
UNC13D	201294	broad.mit.edu	37	chr17	73831747	73831747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctctgaggagctcatgcGcagctggcagagctccttga	12	13	2	3	rs549768303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73831747G>A	ENST00000207549.4	-	19	2087	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	570	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)			GAGCTCATGCGCAGCTGGCAG	0.647									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	0.0	0.0014	5008	,	,		17452	0.0		0.0	False		,,,				2504	0.0					ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1708-1710)Cgc>Tgc		unc-13 homolog D (C. elegans)							35	33	33					17																	73831747		2203	4300	6503	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73831747G>A	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1708C>T	17.37:g.73831747G>A	ENSP00000207549:p.Arg570Cys					UNC13D_ENST00000412096.2_Missense_Mutation_p.R570C	p.R570C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		19	2087	-			570			MHD1.		B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.1708C>T	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583604	0.13749	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.71222	-0.53;-0.55	4.88	2.84	0.33178	Munc13 homology 1 (1);	0.768652	0.12175	N	0.492658	T	0.57725	0.2073	L	0.34521	1.04	0.41761	D	0.98971	B;P	0.47841	0.0;0.901	B;B	0.40329	0.0;0.326	T	0.48433	-0.9036	10	0.38643	T	0.18	-6.1973	8.9429	0.35740	0.1557:0.6371:0.2072:0.0	.	570;570	Q70J99-3;Q70J99	.;UN13D_HUMAN	C	570	ENSP00000207549:R570C;ENSP00000388093:R570C	ENSP00000207549:R570C	R	-	1	0	UNC13D	71343342	0.998000	0.40836	0.958000	0.39756	0.082000	0.17680	0.612000	0.24283	0.398000	0.25338	-0.424000	0.05967	CGC		0.647	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		21	179	0	0	0	1	0	21	179					A	73831747	G	A	73831747	3	1	79	1	0	0	0	0	1	0	0	0	17041	1087	38	1	1620	1	UNC13D	17	73831747	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79162	73831747	7363463	17733	28050											
WBP2	23558	broad.mit.edu	37	chr17	73844721	73844721	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgaaagtcaacttgtaGgaagcagagccttcccagcc	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73844721G>A	ENST00000591399.1	-	5	751	c.327C>T	c.(325-327)tcC>tcT	p.S109S	WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000344296.4_Silent_p.S87S|WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000590221.1_Silent_p.S109S|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000585462.1_Silent_p.S87S			Q969T9	WBP2_HUMAN	WW domain binding protein 2	109					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)			TCAACTTGTAGGAAGCAGAGC	0.517											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000591399.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(325-327)tcC>tcT		WW domain binding protein 2							54	46	48					17																	73844721		2203	4300	6503	SO:0001819	synonymous_variant	23558						protein binding	g.chr17:73844721G>A	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.327C>T	17.37:g.73844721G>A			OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1148	WBP2_ENST00000254806.3_Silent_p.S109S|WBP2_ENST00000433525.2_Silent_p.S109S|WBP2_ENST00000590221.1_Silent_p.S109S|WBP2_ENST00000585462.1_Silent_p.S87S|WBP2_ENST00000344296.4_Silent_p.S87S	p.S109S			Q969T9	WBP2_HUMAN	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)		5	751	-			109					O95638	Silent	SNP	ENST00000591399.1	37	c.327C>T	CCDS11731.1																																																																																				0.517	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		19	111	0	0	0	1	0	19	111					A	73844721	G	A	73844721	2	1	79	1	0	0	0	0	0	0	0	1	17313	987	35	2		2	WBP2	17	73844721	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12974	73844721	7350489	17734	28051											
TRIM47	91107	broad.mit.edu	37	chr17	73871062	73871062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggtccagggcaccctcGcccagcacctgctcacaatg	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73871062G>A	ENST00000254816.2	-	6	1445	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	TRIM47_ENST00000587339.1_Silent_p.G235G|RP11-552F3.9_ENST00000586076.1_RNA	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	473	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCACCCTCGCCCAGCACCT	0.597																																						ENST00000254816.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1417-1419)ggC>ggT		tripartite motif containing 47							63	60	61					17																	73871062		2203	4300	6503	SO:0001819	synonymous_variant	91107					cytoplasm|nucleus	zinc ion binding	g.chr17:73871062G>A	AY026763	CCDS32737.1	17q25	2013-01-09	2011-01-25			ENSG00000132481		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19020	protein-coding gene	gene with protein product		611041	"tripartite motif-containing 47"				Standard	NM_033452		Approved	GOA, RNF100	uc002jpw.3	Q96LD4		ENST00000254816.2:c.1419C>T	17.37:g.73871062G>A						TRIM47_ENST00000587339.1_Silent_p.G235G	p.G473G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1445	-			473			B30.2/SPRY.		Q96AD0|Q96GU5|Q9BRN7	Silent	SNP	ENST00000254816.2	37	c.1419C>T	CCDS32737.1																																																																																				0.597	TRIM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448934.1			54	253	0	0	0	1	0	54	253					A	73871062	G	A	73871062	2	1	79	1	0	0	0	0	0	0	0	1	16575	1074	38	1		1	TRIM47	17	73871062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26341	73871062	7324148	17735	28052											
TRIM65	201292	broad.mit.edu	37	chr17	73888881	73888881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctctagtagctggccttcGgcctgggtggcctgctgctg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73888881G>A	ENST00000269383.3	-	2	530	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	155						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)			GCTGGCCTTCGGCCTGGGTGG	0.657																																						ENST00000269383.3																			0				endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(463-465)gcC>gcT		tripartite motif containing 65							47	42	43					17																	73888881		2203	4300	6503	SO:0001819	synonymous_variant	201292					intracellular	zinc ion binding	g.chr17:73888881G>A	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.465C>T	17.37:g.73888881G>A							p.A155A	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	530	-			155					Q4G0F0|Q6DKJ6|Q9BRP6	Silent	SNP	ENST00000269383.3	37	c.465C>T	CCDS11732.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.465|0.465	-0.887240|-0.887240	0.02511|0.02511	.|.	.|.	ENSG00000141569|ENSG00000141569	ENST00000543309|ENST00000540128	.|.	.|.	.|.	4.74|4.74	-9.49|-9.49	0.00587|0.00587	.|.	.|.	.|.	.|.	.|.	T|.	0.17534|.	0.0421|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999996|0.999996	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.14559|.	-1.0468|.	4|.	.|.	.|.	.|.	.|.	4.94|4.94	0.13960|0.13960	0.5911:0.1913:0.1173:0.1003|0.5911:0.1913:0.1173:0.1003	.|.	.|.	.|.	.|.	L|X	29|147	.|.	.|.	P|R	-|-	2|1	0|2	TRIM65|TRIM65	71400476|71400476	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.938000|-2.938000	0.00684|0.00684	-2.416000|-2.416000	0.00567|0.00567	0.556000|0.556000	0.70494|0.70494	CCG|CGA		0.657	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		32	143	0	0	0	1	0	32	143					A	73888881	G	A	73888881	2	1	79	1	0	0	0	0	0	0	0	1	16592	1103	39	1		1	TRIM65	17	73888881	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17819	73888881	7306329	17736	28053											
MRPL38	64978	broad.mit.edu	37	chr17	73895245	73895245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatggcccttacccagaaGctggtggaagatgtaggtga	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73895245G>A	ENST00000309352.3	-	8	1537	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	RP11-552F3.10_ENST00000587267.1_RNA|TRIM65_ENST00000269383.3_5'Flank|MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|MRPL38_ENST00000585475.1_5'Flank	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	334						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)			TTACCCAGAAGCTGGTGGAAG	0.592																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(1000-1002)Ctt>Ttt		mitochondrial ribosomal protein L38							31	27	29					17																	73895245		2196	4289	6485	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895245G>A	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.1000C>T	17.37:g.73895245G>A	ENSP00000308275:p.Leu334Phe					MRPL38_ENST00000409963.3_Missense_Mutation_p.L150F|RP11-552F3.10_ENST00000587267.1_RNA	p.L334F	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1537	-			334					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.1000C>T	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049424	0.75846	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	T;T	0.23147	1.92;1.92	5.12	5.12	0.69794	.	0.281503	0.32533	N	0.005974	T	0.38957	0.1060	L	0.60455	1.87	0.42239	D	0.991927	D	0.65815	0.995	P	0.59221	0.854	T	0.18178	-1.0345	10	0.52906	T	0.07	-3.2241	8.862	0.35263	0.2108:0.0:0.7892:0.0	.	334	Q96DV4	RM38_HUMAN	F	334;150	ENSP00000308275:L334F;ENSP00000387085:L150F	ENSP00000308275:L334F	L	-	1	0	MRPL38	71406840	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	2.441000	0.44864	2.380000	0.81148	0.511000	0.50034	CTT		0.592	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		9	51	0	0	0	1	0	9	51					A	73895245	G	A	73895245	3	1	79	1	0	0	0	0	1	0	0	0	9842	971	34	2	150	2	MRPL38	17	73895245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6364	73895245	7299965	17737	28054											
MRPL38	64978	broad.mit.edu	37	chr17	73897891	73897891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcggggcacaaaggtggCaccgtggaacaggtctcggt	16	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73897891C>T	ENST00000309352.3	-	4	1030	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_5'UTR|MRPL38_ENST00000585475.1_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	165						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)			ACAAAGGTGGCACCGTGGAAC	0.627																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(493-495)Gcc>Acc		mitochondrial ribosomal protein L38							80	60	67					17																	73897891		2203	4300	6503	SO:0001583	missense	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73897891C>T	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"Mitochondrial ribosomal proteins / large subunits"	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.493G>A	17.37:g.73897891C>T	ENSP00000308275:p.Ala165Thr					MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	p.A165T	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	1030	-			165					B3KN96|Q96Q66|Q9P0B9	Missense_Mutation	SNP	ENST00000309352.3	37	c.493G>A	CCDS11733.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331508	0.81690	.	.	ENSG00000204316	ENST00000309352	T	0.23552	1.9	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63143	-0.6703	10	0.87932	D	0	0.849	19.23	0.93834	0.0:1.0:0.0:0.0	.	165	Q96DV4	RM38_HUMAN	T	165	ENSP00000308275:A165T	ENSP00000308275:A165T	A	-	1	0	MRPL38	71409486	1.000000	0.71417	0.982000	0.44146	0.117000	0.20001	7.349000	0.79376	2.544000	0.85801	0.650000	0.86243	GCC		0.627	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		36	163	0	0	0	1	0	36	163					T	73897891	C	T	73897891	3	4	79	1	0	0	0	0	1	0	0	0	9842	710	25	2	673	2	MRPL38	17	73897891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2646	73897891	7297319	17738	28055											
FBF1	85302	broad.mit.edu	37	chr17	73915865	73915865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcggcctcctggcactgCgacagataccgagctgacag	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73915865C>T	ENST00000586717.1	-	19	2253	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	FBF1_ENST00000319129.5_Silent_p.S659S|FBF1_ENST00000389570.4_Silent_p.S660S			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	660					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTGGCACTGCGACAGATACC	0.627																																						ENST00000586717.1																			0				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(1978-1980)tcG>tcA		Fas (TNFRSF6) binding factor 1							72	74	73					17																	73915865		2036	4187	6223	SO:0001819	synonymous_variant	85302							g.chr17:73915865C>T	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1980G>A	17.37:g.73915865C>T						FBF1_ENST00000319129.5_Silent_p.S659S|FBF1_ENST00000389570.4_Silent_p.S660S	p.S660S			A6NLR5	A6NLR5_HUMAN			19	2253	-			659					B5MEM5|Q96IF6|Q96JG4|Q96MA8	Silent	SNP	ENST00000586717.1	37	c.1980G>A																																																																																					0.627	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542		44	238	0	0	0	1	0	44	238					T	73915865	C	T	73915865	2	4	79	1	0	0	0	0	0	0	0	1	5720	755	27	1		1	FBF1	17	73915865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17974	73915865	7279345	17739	28056											
EVPL	2125	broad.mit.edu	37	chr17	74003558	74003558	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagcctcttcttggtgaCggggtcctcgatgccggtga	15	11	2	3	rs192983471	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003558C>T	ENST00000301607.3	-	22	5981	c.5728G>A	c.(5728-5730)Gtc>Atc	p.V1910I	EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1910	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTTGGTGACGGGGTCCTCG	0.652													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17467	0.001		0.0	False		,,,				2504	0.0					ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5728-5730)Gtc>Atc		envoplakin							62	54	57					17																	74003558		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003558C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5728G>A	17.37:g.74003558C>T	ENSP00000301607:p.Val1910Ile					EVPL_ENST00000586740.1_Missense_Mutation_p.V1932I	p.V1910I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5981	-			1910			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5728G>A	CCDS11737.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.53	2.265785	0.40095	.	.	ENSG00000167880	ENST00000301607	T	0.73258	-0.73	5.48	5.48	0.80851	.	0.125190	0.56097	D	0.000039	T	0.69242	0.3089	N	0.19112	0.55	0.33918	D	0.640524	B;D	0.71674	0.059;0.998	B;P	0.55011	0.029;0.766	T	0.71820	-0.4477	10	0.23302	T	0.38	-58.9386	19.3612	0.94438	0.0:1.0:0.0:0.0	.	1932;1910	B7ZLH8;Q92817	.;EVPL_HUMAN	I	1910	ENSP00000301607:V1910I	ENSP00000301607:V1910I	V	-	1	0	EVPL	71515153	0.682000	0.27624	0.973000	0.42090	0.878000	0.50629	1.257000	0.32932	2.564000	0.86499	0.561000	0.74099	GTC		0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		64	313	0	0	0	1	0	64	313					T	74003558	C	T	74003558	3	4	79	1	0	0	0	0	1	0	0	0	5310	536	19	1	377	1	EVPL	17	74003558	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87693	74003558	7191652	17740	28057											
EVPL	2125	broad.mit.edu	37	chr17	74003780	74003780	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgatgctgcacttgttgtCtgtggttgtgtcatagatcc	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003780C>T	ENST00000301607.3	-	22	5759	c.5506G>A	c.(5506-5508)Gac>Aac	p.D1836N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1836	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACTTGTTGTCTGTGGTTGTG	0.612																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5506-5508)Gac>Aac		envoplakin							139	145	143					17																	74003780		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003780C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5506G>A	17.37:g.74003780C>T	ENSP00000301607:p.Asp1836Asn					EVPL_ENST00000586740.1_Missense_Mutation_p.D1858N	p.D1836N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5759	-			1836			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5506G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446603	0.63178	.	.	ENSG00000167880	ENST00000301607	T	0.70986	-0.53	5.48	4.51	0.55191	.	0.103125	0.64402	D	0.000005	T	0.78444	0.4284	L	0.50333	1.59	0.38780	D	0.954754	D;B	0.89917	1.0;0.241	D;B	0.75484	0.986;0.178	T	0.78715	-0.2096	10	0.37606	T	0.19	-45.0987	12.4161	0.55494	0.0:0.86:0.0:0.14	.	1858;1836	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1836	ENSP00000301607:D1836N	ENSP00000301607:D1836N	D	-	1	0	EVPL	71515375	0.866000	0.29940	0.651000	0.29564	0.948000	0.59901	1.741000	0.38238	1.306000	0.44926	0.561000	0.74099	GAC		0.612	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		97	1045	0	0	0	1	0	97	1045					T	74003780	C	T	74003780	3	4	79	1	0	0	0	0	1	0	0	0	5310	913	32	2	599	2	EVPL	17	74003780	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	222	74003780	7191430	17741	28058											
EVPL	2125	broad.mit.edu	37	chr17	74005791	74005791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccctggccagcgtcgcgttCttggtcctctcctcctcgag	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74005791C>A	ENST00000301607.3	-	22	3748	c.3495G>T	c.(3493-3495)aaG>aaT	p.K1165N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1165	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						GCGTCGCGTTCTTGGTCCTCT	0.632																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3493-3495)aaG>aaT		envoplakin							46	42	43					17																	74005791		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005791C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3495G>T	17.37:g.74005791C>A	ENSP00000301607:p.Lys1165Asn					EVPL_ENST00000586740.1_Missense_Mutation_p.K1187N	p.K1165N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3748	-			1165			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3495G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	3.416	-0.119149	0.06838	.	.	ENSG00000167880	ENST00000301607	T	0.48836	0.8	5.14	3.11	0.35812	.	0.763817	0.12829	N	0.435764	T	0.37972	0.1023	L	0.43152	1.355	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.12156	0.005;0.007	T	0.31336	-0.9947	10	0.51188	T	0.08	-14.3804	6.5517	0.22438	0.0:0.653:0.131:0.216	.	1187;1165	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1165	ENSP00000301607:K1165N	ENSP00000301607:K1165N	K	-	3	2	EVPL	71517386	0.497000	0.26067	0.002000	0.10522	0.011000	0.07611	0.718000	0.25866	0.559000	0.29153	0.485000	0.47835	AAG		0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		60	247	1	0	6.3091e-27	1	7.28755e-27	60	247					A	74005791	C	A	74005791	3	1	79	1	0	0	0	0	1	0	0	0	5310	912	32	3	2610	3	EVPL	17	74005791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2011	74005791	7189419	17742	28059											
EVPL	2125	broad.mit.edu	37	chr17	74013961	74013961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtcaggagcttctgggcCtgtgggttggccaggtctga	17	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74013961C>A	ENST00000301607.3	-	14	1822	c.1569G>T	c.(1567-1569)caG>caT	p.Q523H	EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	523	Globular 1.				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						GCTTCTGGGCCTGTGGGTTGG	0.677																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1567-1569)caG>caT		envoplakin							43	47	45					17																	74013961		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74013961C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1569G>T	17.37:g.74013961C>A	ENSP00000301607:p.Gln523His					EVPL_ENST00000586740.1_Missense_Mutation_p.Q545H	p.Q523H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			14	1822	-			523			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1569G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703153	0.30232	.	.	ENSG00000167880	ENST00000301607	T	0.68181	-0.31	4.88	0.285	0.15705	.	0.177195	0.49916	N	0.000121	T	0.50240	0.1604	L	0.51914	1.62	0.34965	D	0.752622	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.40213	-0.9575	10	0.22706	T	0.39	-33.1096	4.0054	0.09598	0.3073:0.4617:0.0:0.231	.	545;523	B7ZLH8;Q92817	.;EVPL_HUMAN	H	523	ENSP00000301607:Q523H	ENSP00000301607:Q523H	Q	-	3	2	EVPL	71525556	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	0.576000	0.23744	0.584000	0.29591	-0.226000	0.12346	CAG		0.677	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		42	329	1	0	2.00842e-17	1	2.21757e-17	42	329					A	74013961	C	A	74013961	3	1	79	1	0	0	0	0	1	0	0	0	5310	680	24	3	4568	3	EVPL	17	74013961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8170	74013961	7181249	17743	28060											
EVPL	2125	broad.mit.edu	37	chr17	74015643	74015643	+	Frame_Shift_Del	DEL	G	G	-													gcagctctgtgggggcgccaGgggggcccccaggtgcaggg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74015643delG	ENST00000301607.3	-	10	1356	c.1103delC	c.(1102-1104)cctfs	p.P368fs	EVPL_ENST00000586740.1_Frame_Shift_Del_p.P368fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	368	Globular 1.				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						GGGGGCGCCAGGGGGGCCCCC	0.612																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1102-1104)ctfs		envoplakin							37	41	40					17																	74015643		2203	4300	6503	SO:0001589	frameshift_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74015643delG	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.1103delC	17.37:g.74015643delG	ENSP00000301607:p.Pro368fs					EVPL_ENST00000586740.1_Frame_Shift_Del_p.P368fs	p.P368fs	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			10	1356	-			368			Globular 1.		A0AUV5	Frame_Shift_Del	DEL	ENST00000301607.3	37	c.1103delC	CCDS11737.1																																																																																				0.612	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		21	211						21	211	---	---	---	---	-	74015643	G	-	74015643	7	5	79	1	0	1	0	1	0	0	0	0	5310	1000	35	0	5050	0	EVPL	17	74015643	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	1682	74015643	7179567	17744	28061											
EVPL	2125	broad.mit.edu	37	chr17	74017770	74017770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctggatgggccccacCgcggggtgccgcagctccac	14	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017770C>T	ENST00000301607.3	-	8	1153	c.900G>A	c.(898-900)gcG>gcA	p.A300A	EVPL_ENST00000586740.1_Silent_p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	300	Globular 1.				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						TGGGCCCCACCGCGGGGTGCC	0.726																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(898-900)gcG>gcA		envoplakin							13	16	15					17																	74017770		2185	4264	6449	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74017770C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.900G>A	17.37:g.74017770C>T						EVPL_ENST00000586740.1_Silent_p.A300A	p.A300A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			8	1153	-			300			Globular 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.900G>A	CCDS11737.1																																																																																				0.726	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		29	95	0	0	0	1	0	29	95					T	74017770	C	T	74017770	2	4	79	1	0	0	0	0	0	0	0	1	5310	639	23	1		1	EVPL	17	74017770	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2127	74017770	7177440	17745	28062											
EVPL	2125	broad.mit.edu	37	chr17	74017962	74017962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgacctcgtactcccgccGcacgcccgcagggtcggcca	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017962G>A	ENST00000301607.3	-	7	1046	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	265	Globular 1.				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						TACTCCCGCCGCACGCCCGCA	0.756																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(793-795)Cgg>Tgg		envoplakin							4	6	5					17																	74017962		1917	3916	5833	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74017962G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.793C>T	17.37:g.74017962G>A	ENSP00000301607:p.Arg265Trp					EVPL_ENST00000586740.1_Missense_Mutation_p.R265W	p.R265W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			7	1046	-			265			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.793C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023501	0.75390	.	.	ENSG00000167880	ENST00000301607	T	0.36340	1.26	4.48	1.06	0.20224	.	0.066524	0.64402	D	0.000011	T	0.55545	0.1927	M	0.72894	2.215	0.47737	D	0.999509	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.952	T	0.58346	-0.7652	10	0.87932	D	0	-28.1071	13.1488	0.59478	0.0:0.0:0.5953:0.4047	.	265;265	B7ZLH8;Q92817	.;EVPL_HUMAN	W	265	ENSP00000301607:R265W	ENSP00000301607:R265W	R	-	1	2	EVPL	71529557	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	4.253000	0.58791	0.035000	0.15519	0.563000	0.77884	CGG		0.756	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		12	40	0	0	0	1	0	12	40					A	74017962	G	A	74017962	3	1	79	1	0	0	0	0	1	0	0	0	5310	1086	38	1	5372	1	EVPL	17	74017962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192	74017962	7177248	17746	28063											
SRP68	6730	broad.mit.edu	37	chr17	74056448	74056448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaatctcatctgcatgaGttcattgatggctgactggt	9	10	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74056448G>A	ENST00000307877.2	-	7	939	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	SRP68_ENST00000539137.1_Missense_Mutation_p.L222F|SRP68_ENST00000355113.5_Missense_Mutation_p.L159F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	260					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						ATCTGCATGAGTTCATTGATG	0.418																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(778-780)Ctc>Ttc		signal recognition particle 68kDa							83	83	83					17																	74056448		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74056448G>A	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.778C>T	17.37:g.74056448G>A	ENSP00000312066:p.Leu260Phe					SRP68_ENST00000355113.5_Missense_Mutation_p.L159F|SRP68_ENST00000539137.1_Missense_Mutation_p.L222F	p.L260F	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			7	939	-			260					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.778C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710345	0.68730	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.23	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.982	T	0.46884	-0.9159	10	0.42905	T	0.14	-17.7999	9.3472	0.38115	0.2081:0.0:0.7919:0.0	.	222;260	G3V1U4;Q9UHB9	.;SRP68_HUMAN	F	222;260;260;159	ENSP00000446136:L222F;ENSP00000312066:L260F;ENSP00000347233:L159F	ENSP00000312066:L260F	L	-	1	0	SRP68	71568043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.475000	0.45162	2.601000	0.87937	0.467000	0.42956	CTC		0.418	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		33	192	0	0	0	1	0	33	192					A	74056448	G	A	74056448	3	1	79	1	0	0	0	0	1	0	0	0	15208	1029	36	2	1145	2	SRP68	17	74056448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38486	74056448	7138762	17747	28064											
SRP68	6730	broad.mit.edu	37	chr17	74057202	74057202	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctcaccaatattatatGcacaatagcggatgttgggt	9	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74057202G>T	ENST00000307877.2	-	6	904	c.743C>A	c.(742-744)gCa>gAa	p.A248E	SRP68_ENST00000539137.1_Missense_Mutation_p.A210E|SRP68_ENST00000355113.5_Missense_Mutation_p.A147E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	248					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						AATATTATATGCACAATAGCG	0.443																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(742-744)gCa>gAa		signal recognition particle 68kDa							198	184	189					17																	74057202		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74057202G>T	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.743C>A	17.37:g.74057202G>T	ENSP00000312066:p.Ala248Glu					SRP68_ENST00000355113.5_Missense_Mutation_p.A147E|SRP68_ENST00000539137.1_Missense_Mutation_p.A210E	p.A248E	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			6	904	-			248					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.743C>A	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566004	0.86439	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.29917	1.55;1.55;1.55	5.36	4.37	0.52481	Tetratricopeptide-like helical (1);	0.045681	0.85682	N	0.000000	T	0.52901	0.1763	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52117	-0.8618	10	0.35671	T	0.21	-10.5003	15.5106	0.75779	0.0:0.0:0.8604:0.1396	.	210;248	G3V1U4;Q9UHB9	.;SRP68_HUMAN	E	210;248;248;248;147	ENSP00000446136:A210E;ENSP00000312066:A248E;ENSP00000347233:A147E	ENSP00000307756:A248E	A	-	2	0	SRP68	71568797	1.000000	0.71417	0.852000	0.33557	0.950000	0.60333	7.903000	0.87398	1.361000	0.45981	0.462000	0.41574	GCA		0.443	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		126	625	1	0	5.34577e-75	1	6.81469e-75	126	625					T	74057202	G	T	74057202	3	4	79	1	0	0	0	0	1	0	0	0	15208	1319	46	3	1184	3	SRP68	17	74057202	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	754	74057202	7138008	17748	28065											
SRP68	6730	broad.mit.edu	37	chr17	74060107	74060107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgattgctctcacacaagcGttccaattcctctgcatgct	7	14	2	0	rs144739272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060107G>A	ENST00000307877.2	-	4	672	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SRP68_ENST00000539137.1_Missense_Mutation_p.R133C|SRP68_ENST00000355113.5_Missense_Mutation_p.R70C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	171					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						TCACACAAGCGTTCCAATTCC	0.468																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(511-513)Cgc>Tgc		signal recognition particle 68kDa							173	158	163					17																	74060107		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74060107G>A	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.511C>T	17.37:g.74060107G>A	ENSP00000312066:p.Arg171Cys					SRP68_ENST00000355113.5_Missense_Mutation_p.R70C|SRP68_ENST00000539137.1_Missense_Mutation_p.R133C	p.R171C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			4	672	-			171					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.511C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449076	0.84101	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.094954	0.64402	D	0.000002	T	0.67306	0.2879	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.56700	0.736;0.804	T	0.68573	-0.5373	9	0.62326	D	0.03	-14.7833	15.7708	0.78167	0.0:0.0:0.8555:0.1445	.	133;171	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	133;171;171;171;70	.	ENSP00000307756:R171C	R	-	1	0	SRP68	71571702	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.615000	0.61190	2.753000	0.94483	0.585000	0.79938	CGC		0.468	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		99	456	0	0	0	1	0	99	456					A	74060107	G	A	74060107	3	1	79	1	0	0	0	0	1	0	0	0	15208	1145	40	1	1424	1	SRP68	17	74060107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2905	74060107	7135103	17749	28066											
SRP68	6730	broad.mit.edu	37	chr17	74060140	74060140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcttcacggctttgcGtaggcgagataacaagtgaa	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060140G>A	ENST00000307877.2	-	4	639	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	SRP68_ENST00000539137.1_Missense_Mutation_p.R122C|SRP68_ENST00000355113.5_Missense_Mutation_p.R59C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	160					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						ACGGCTTTGCGTAGGCGAGAT	0.502																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(478-480)Cgc>Tgc		signal recognition particle 68kDa							189	166	174					17																	74060140		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74060140G>A	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.478C>T	17.37:g.74060140G>A	ENSP00000312066:p.Arg160Cys					SRP68_ENST00000355113.5_Missense_Mutation_p.R59C|SRP68_ENST00000539137.1_Missense_Mutation_p.R122C	p.R160C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			4	639	-			160					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.478C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495567	0.96355	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	.	.	.	5.83	5.83	0.93111	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.83768	0.0218	9	0.87932	D	0	-20.1451	20.1099	0.97909	0.0:0.0:1.0:0.0	.	122;160	G3V1U4;Q9UHB9	.;SRP68_HUMAN	C	122;160;160;160;59	.	ENSP00000307756:R160C	R	-	1	0	SRP68	71571735	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	9.756000	0.98918	2.753000	0.94483	0.585000	0.79938	CGC		0.502	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		124	521	0	0	0	1	0	124	521					A	74060140	G	A	74060140	3	1	79	1	0	0	0	0	1	0	0	0	15208	1145	40	1	1457	1	SRP68	17	74060140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33	74060140	7135070	17750	28067											
GALR2	8811	broad.mit.edu	37	chr17	74073063	74073063	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggtgacacgcatgatcCtcatcgtggccgcgctcttc	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74073063C>A	ENST00000329003.3	+	2	805	c.715C>A	c.(715-717)Ctc>Atc	p.L239I	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCATGATCCTCATCGTGGC	0.701																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(715-717)Ctc>Atc		galanin receptor 2							29	30	29					17																	74073063		2203	4298	6501	SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073063C>A	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.715C>A	17.37:g.74073063C>A	ENSP00000329684:p.Leu239Ile						p.L239I	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	805	+			239					A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	37	c.715C>A	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650894	0.14516	.	.	ENSG00000182687	ENST00000329003	T	0.38401	1.14	4.85	-6.75	0.01738	GPCR, rhodopsin-like superfamily (1);	0.866516	0.09810	N	0.752895	T	0.14743	0.0356	N	0.10685	0.025	0.25763	N	0.98493	B	0.06786	0.001	B	0.12156	0.007	T	0.34825	-0.9813	10	0.17832	T	0.49	.	10.2836	0.43554	0.6392:0.1143:0.2464:0.0	.	239	O43603	GALR2_HUMAN	I	239	ENSP00000329684:L239I	ENSP00000329684:L239I	L	+	1	0	GALR2	71584658	0.363000	0.24989	0.113000	0.21522	0.948000	0.59901	-0.127000	0.10547	-1.413000	0.02027	0.462000	0.41574	CTC		0.701	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			35	160	1	0	2.32173e-10	1	2.46079e-10	35	160					A	74073063	C	A	74073063	3	1	79	1	0	0	0	0	1	0	0	0	6256	681	24	3	721	3	GALR2	17	74073063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12923	74073063	7122147	17751	28068											
EXOC7	23265	broad.mit.edu	37	chr17	74090663	74090663	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtagtagacgttcatgaaatCtgaggagacacagagggata	13	5	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	ENST00000335146.7	-	6	694		c.e6-1		EXOC7_ENST00000607838.1_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site|EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCATGAAATCTGAGGAGACA	0.527																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.e6-1		exocyst complex component 7							100	97	98					17																	74090663		2203	4300	6503	SO:0001630	splice_region_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74090663C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.641-1G>A	17.37:g.74090663C>T						EXOC7_ENST00000467929.2_Splice_Site|EXOC7_ENST00000335146.7_Splice_Site|EXOC7_ENST00000411744.2_Splice_Site|EXOC7_ENST00000332065.5_Splice_Site|EXOC7_ENST00000405575.4_Splice_Site|EXOC7_ENST00000589210.1_Splice_Site		NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		6	735	-								B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Splice_Site	SNP	ENST00000335146.7	37		CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274432	0.59649	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116	.	.	.	4.84	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5218	0.61572	0.0:0.8435:0.1565:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC7	71602258	1.000000	0.71417	0.992000	0.48379	0.792000	0.44763	7.284000	0.78650	1.240000	0.43803	-0.312000	0.09012	.		0.527	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219	Intron	80	355	0	0	0	1	0	80	355					T	74090663	C	T	74090663	5	4	79	1	0	0	0	0	0	0	1	0	5328	927	32	2	1627	2	EXOC7	17	74090663	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17600	74090663	7104547	17752	28069											
FOXJ1	2302	broad.mit.edu	37	chr17	74133831	74133831	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggggtgggcagcagggtgCtggggggccgcgggaccttg	23	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74133831C>A	ENST00000322957.6	-	3	1223	c.869G>T	c.(868-870)aGc>aTc	p.S290I	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	290					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)			CAGCAGGGTGCTGGGGGGCCG	0.716																																						ENST00000322957.6																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(868-870)aGc>aTc		forkhead box J1							12	15	14					17																	74133831		2055	4066	6121	SO:0001583	missense	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74133831C>A	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.869G>T	17.37:g.74133831C>A	ENSP00000323880:p.Ser290Ile						p.S290I	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	1223	-			290					O00630	Missense_Mutation	SNP	ENST00000322957.6	37	c.869G>T	CCDS32739.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095997	0.56075	.	.	ENSG00000129654	ENST00000322957	D	0.94613	-3.47	4.96	3.97	0.46021	.	0.075688	0.85682	D	0.000000	D	0.94056	0.8095	M	0.63843	1.955	0.58432	D	0.999999	D	0.54207	0.965	P	0.50537	0.643	D	0.92911	0.6347	10	0.52906	T	0.07	.	10.4846	0.44713	0.0:0.7901:0.1345:0.0755	.	290	Q92949	FOXJ1_HUMAN	I	290	ENSP00000323880:S290I	ENSP00000323880:S290I	S	-	2	0	FOXJ1	71645426	0.998000	0.40836	0.999000	0.59377	0.478000	0.33099	1.148000	0.31614	1.044000	0.40200	0.462000	0.41574	AGC		0.716	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		5	181	1	0	4.096e-09	1	4.30383e-09	5	181					A	74133831	C	A	74133831	3	1	79	1	0	0	0	0	1	0	0	0	6038	797	28	3	400	3	FOXJ1	17	74133831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43168	74133831	7061379	17753	28070											
RNF157	114804	broad.mit.edu	37	chr17	74154560	74154560	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcttcctcttcatgcagcaCggaagagttttgggaagtgg	12	8	3	1	rs201495655		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74154560C>T	ENST00000269391.6	-	13	1459	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	443	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21549	0.0		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(1327-1329)Gtg>Atg		ring finger protein 157							108	96	100					17																	74154560		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74154560C>T	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.1327G>A	17.37:g.74154560C>T	ENSP00000269391:p.Val443Met					RNF157_ENST00000319945.6_Missense_Mutation_p.V443M	p.V443M	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		13	1459	-			443			Ser-rich.		Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.1327G>A	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702764	0.30232	.	.	ENSG00000141576	ENST00000269391;ENST00000319945	T;T	0.27402	1.67;1.76	5.7	4.54	0.55810	.	0.121727	0.53938	D	0.000050	T	0.17238	0.0414	N	0.25485	0.75	0.80722	D	1	P;P	0.38978	0.652;0.581	B;B	0.26517	0.07;0.048	T	0.03619	-1.1019	10	0.41790	T	0.15	-6.5956	11.1046	0.48194	0.0:0.8707:0.0:0.1293	.	443;443	Q96PX1-2;Q96PX1	.;RN157_HUMAN	M	443	ENSP00000269391:V443M;ENSP00000321837:V443M	ENSP00000269391:V443M	V	-	1	0	RNF157	71666155	0.948000	0.32251	0.842000	0.33263	0.335000	0.28730	1.991000	0.40727	2.670000	0.90874	0.655000	0.94253	GTG		0.502	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		40	272	0	0	0	1	0	40	272					T	74154560	C	T	74154560	3	4	79	1	0	0	0	0	1	0	0	0	13504	536	19	1	740	1	RNF157	17	74154560	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20729	74154560	7040650	17754	28071											
RNF157	114804	broad.mit.edu	37	chr17	74169839	74169839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcttctcagagtcttcacGggttcttggggaggtggggc	17	8	4	1	rs201544317		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169839G>A	ENST00000269391.6	-	3	372	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RNF157_ENST00000319945.6_Silent_p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	80			P -> H (in dbSNP:rs2289602).				zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GAGTCTTCACGGGTTCTTGGG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		16235	0.001		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(238-240)ccC>ccT		ring finger protein 157							51	45	47					17																	74169839		2203	4300	6503	SO:0001819	synonymous_variant	114804						zinc ion binding	g.chr17:74169839G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.240C>T	17.37:g.74169839G>A						RNF157_ENST00000319945.6_Silent_p.P80P	p.P80P	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	372	-			80		P -> H (in dbSNP:rs2289602).			Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	37	c.240C>T	CCDS32740.1																																																																																				0.537	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		19	74	0	0	0	1	0	19	74					A	74169839	G	A	74169839	2	1	79	1	0	0	0	0	0	0	0	1	13504	1103	39	1		1	RNF157	17	74169839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15279	74169839	7025371	17755	28072											
RNF157	114804	broad.mit.edu	37	chr17	74169858	74169858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggttcttggggaggtgggGcggcgtaaggaaactgtgtc	20	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169858G>A	ENST00000269391.6	-	3	353	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	74							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGAGGTGGGGCGGCGTAAGG	0.527																																					GBM(186;507 2120 27388 27773 52994)	ENST00000269391.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25						c.(220-222)gCc>gTc		ring finger protein 157							48	42	44					17																	74169858		2203	4300	6503	SO:0001583	missense	114804						zinc ion binding	g.chr17:74169858G>A	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.221C>T	17.37:g.74169858G>A	ENSP00000269391:p.Ala74Val					RNF157_ENST00000319945.6_Missense_Mutation_p.A74V	p.A74V	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	353	-			74					Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	c.221C>T	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	G	33	5.264789	0.95399	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.23552	1.9;1.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.46157	1.445	0.80722	D	1	D;P	0.54772	0.968;0.786	P;P	0.59115	0.852;0.621	T	0.10405	-1.0631	10	0.41790	T	0.15	-25.5121	18.3016	0.90165	0.0:0.0:1.0:0.0	.	74;74	Q96PX1-2;Q96PX1	.;RN157_HUMAN	V	74;74;36	ENSP00000269391:A74V;ENSP00000321837:A74V	ENSP00000269391:A74V	A	-	2	0	RNF157	71681453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.699000	0.98703	2.389000	0.81357	0.591000	0.81541	GCC		0.527	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		12	84	0	0	0	1	0	12	84					A	74169858	G	A	74169858	3	1	79	1	0	0	0	0	1	0	0	0	13504	1203	42	2	1886	2	RNF157	17	74169858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	74169858	7025352	17756	28073											
QRICH2	84074	broad.mit.edu	37	chr17	74276157	74276157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggtagagtggggggcGctccctgagctgctgtcgca	17	11	0	2	rs146485823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74276157G>A	ENST00000262765.5	-	12	4386	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1403								p.R1403C(1)		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						AGTGGGGGGCGCTCCCTGAGC	0.682													G|||	3	0.000599042	0.0015	0.0	5008	,	,		14927	0.0		0.0	False		,,,				2504	0.001					ENST00000262765.5																			1	Substitution - Missense(1)	p.R1403C(1)	endometrium(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(4207-4209)Cgc>Tgc		glutamine rich 2		G	CYS/ARG	9,4385		0,9,2188	30	36	34		4207	5.6	0.9	17	dbSNP_134	34	19,8569		0,19,4275	yes	missense	QRICH2	NM_032134.1	180	0,28,6463	AA,AG,GG		0.2212,0.2048,0.2157	probably-damaging	1403/1664	74276157	28,12954	2197	4294	6491	SO:0001583	missense	84074						protein binding	g.chr17:74276157G>A	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.4207C>T	17.37:g.74276157G>A	ENSP00000262765:p.Arg1403Cys						p.R1403C	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			12	4386	-			1403					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.4207C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963400	0.34659	0.002048	0.002212	ENSG00000129646	ENST00000262765	T	0.09911	2.93	5.59	5.59	0.84812	.	.	.	.	.	T	0.24122	0.0584	M	0.62723	1.935	0.37858	D	0.929631	D	0.71674	0.998	P	0.55667	0.781	T	0.01195	-1.1422	9	0.42905	T	0.14	-19.6363	15.1347	0.72555	0.0:0.0:0.8581:0.1419	.	1403	Q9H0J4	QRIC2_HUMAN	C	1403	ENSP00000262765:R1403C	ENSP00000262765:R1403C	R	-	1	0	QRICH2	71787752	0.001000	0.12720	0.892000	0.35008	0.018000	0.09664	0.765000	0.26546	2.635000	0.89317	0.655000	0.94253	CGC		0.682	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		82	374	0	0	0	1	0	82	374					A	74276157	G	A	74276157	3	1	79	1	0	0	0	0	1	0	0	0	12930	1087	38	1	816	1	QRICH2	17	74276157	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106299	74276157	6919053	17757	28074											
QRICH2	84074	broad.mit.edu	37	chr17	74289427	74289427	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgaaaccagaccatgttggtCtgtgctaggtagttccaatc	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289427C>T	ENST00000262765.5	-	4	1062	c.883G>A	c.(883-885)Gac>Aac	p.D295N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	295										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						CCATGTTGGTCTGTGCTAGGT	0.498																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(883-885)Gac>Aac		glutamine rich 2							161	137	145					17																	74289427		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289427C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.883G>A	17.37:g.74289427C>T	ENSP00000262765:p.Asp295Asn						p.D295N	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	1062	-			295					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.883G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710551	0.30322	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.14893	2.47	3.55	2.55	0.30701	.	.	.	.	.	T	0.25975	0.0633	L	0.52364	1.645	0.09310	N	1	D;P	0.63880	0.993;0.541	P;B	0.55391	0.775;0.098	T	0.08953	-1.0697	9	0.27082	T	0.32	-6.2065	10.9542	0.47347	0.0:0.8079:0.1921:0.0	.	295;295	B5MD94;Q9H0J4	.;QRIC2_HUMAN	N	295	ENSP00000262765:D295N	ENSP00000262765:D295N	D	-	1	0	QRICH2	71801022	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.136000	0.15974	1.042000	0.40150	0.563000	0.77884	GAC		0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		80	404	0	0	0	1	0	80	404					T	74289427	C	T	74289427	3	4	79	1	0	0	0	0	1	0	0	0	12930	913	32	2	4172	2	QRICH2	17	74289427	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13270	74289427	6905783	17758	28075											
QRICH2	84074	broad.mit.edu	37	chr17	74289861	74289861	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcttcatcacgggccctcGgctgctgctgtctcccagta	10	16	3	0	rs141784144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289861G>A	ENST00000262765.5	-	4	628	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	150										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						ACGGGCCCTCGGCTGCTGCTG	0.552																																						ENST00000262765.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(448-450)cCg>cTg		glutamine rich 2		G	LEU/PRO	2,4404	4.2+/-10.8	0,2,2201	60	61	60		449	2.2	0.1	17	dbSNP_134	60	0,8600		0,0,4300	no	missense	QRICH2	NM_032134.1	98	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	150/1664	74289861	2,13004	2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289861G>A	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.449C>T	17.37:g.74289861G>A	ENSP00000262765:p.Pro150Leu						p.P150L	NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN			4	628	-			150					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.449C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447588	0.12223	4.54E-4	0.0	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08546	3.08	3.23	2.25	0.28309	.	.	.	.	.	T	0.06735	0.0172	L	0.47190	1.495	0.22858	N	0.998644	B;B	0.24882	0.113;0.059	B;B	0.16722	0.016;0.005	T	0.41431	-0.9509	9	0.11485	T	0.65	-0.8082	6.4366	0.21827	0.1354:0.0:0.8646:0.0	.	150;150	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	150	ENSP00000262765:P150L	ENSP00000262765:P150L	P	-	2	0	QRICH2	71801456	0.001000	0.12720	0.056000	0.19401	0.031000	0.12232	0.176000	0.16782	0.930000	0.37217	0.563000	0.77884	CCG		0.552	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		76	287	0	0	0	1	0	76	287					A	74289861	G	A	74289861	3	1	79	1	0	0	0	0	1	0	0	0	12930	1116	39	1	4606	1	QRICH2	17	74289861	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	434	74289861	6905349	17759	28076											
PRPSAP1	5635	broad.mit.edu	37	chr17	74308979	74308979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggaggactcctcaatcaggCgaggggcctctgcagacagg	15	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74308979C>T	ENST00000446526.3	-	9	1416	c.971G>A	c.(970-972)cGc>cAc	p.R324H	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	295					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCAATCAGGCGAGGGGCCTC	0.498																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(970-972)cGc>cAc		phosphoribosyl pyrophosphate synthetase-associated protein 1							73	77	76					17																	74308979		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74308979C>T	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.971G>A	17.37:g.74308979C>T	ENSP00000414624:p.Arg324His					PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R221H|PRPSAP1_ENST00000588364.1_5'UTR	p.R324H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			9	1416	-			295					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.971G>A	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908919	0.92107	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.73681	-0.77;-0.77;-0.77	5.83	3.8	0.43715	.	0.048040	0.85682	D	0.000000	D	0.82706	0.5095	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.63113	0.911;0.84	T	0.83303	-0.0027	10	0.87932	D	0	.	10.6537	0.45663	0.1332:0.7988:0.0:0.068	.	295;324	Q14558;Q14558-2	KPRA_HUMAN;.	H	324;221;221	ENSP00000414624:R324H;ENSP00000314973:R221H;ENSP00000392838:R221H	ENSP00000314973:R221H	R	-	2	0	PRPSAP1	71820574	1.000000	0.71417	0.977000	0.42913	0.878000	0.50629	4.819000	0.62664	0.771000	0.33359	0.655000	0.94253	CGC		0.498	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		72	373	0	0	0	1	0	72	373					T	74308979	C	T	74308979	3	4	79	1	0	0	0	0	1	0	0	0	12628	768	27	1	194	1	PRPSAP1	17	74308979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19118	74308979	6886231	17760	28077											
PRPSAP1	5635	broad.mit.edu	37	chr17	74324894	74324894	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttccgtgcactgagcttcccCgtgaatgacggccaaaccca	9	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74324894C>A	ENST00000446526.3	-	7	1130	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	200					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGCTTCCCCGTGAATGACG	0.547																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(685-687)Ggg>Tgg		phosphoribosyl pyrophosphate synthetase-associated protein 1							120	84	96					17																	74324894		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74324894C>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.685G>T	17.37:g.74324894C>A	ENSP00000414624:p.Gly229Trp					PRPSAP1_ENST00000324684.4_Missense_Mutation_p.G126W	p.G229W	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			7	1130	-			200					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.685G>T	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	C	34	5.358148	0.95854	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93677	0.6995	10	0.62326	D	0.03	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	200;229	Q14558;Q14558-2	KPRA_HUMAN;.	W	229;126;126;126	ENSP00000414624:G229W;ENSP00000314973:G126W;ENSP00000392838:G126W;ENSP00000387494:G126W	ENSP00000314973:G126W	G	-	1	0	PRPSAP1	71836489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	GGG		0.547	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		39	167	1	0	6.29468e-14	1	6.81746e-14	39	167					A	74324894	C	A	74324894	3	1	79	1	0	0	0	0	1	0	0	0	12628	652	23	3	488	3	PRPSAP1	17	74324894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15915	74324894	6870316	17761	28078											
SPHK1	8877	broad.mit.edu	37	chr17	74383248	74383248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccactggaggagccagtgCcctctcactggacagtggtg	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74383248C>T	ENST00000545180.1	+	8	1545	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S|SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	246					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	GGAGCCAGTGCCCTCTCACTG	0.627																																					GBM(90;966 1307 27369 33775 44498)	ENST00000545180.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						c.(736-738)Ccc>Tcc		sphingosine kinase 1							57	43	47					17																	74383248		2203	4300	6503	SO:0001583	missense	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74383248C>T	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.736C>T	17.37:g.74383248C>T	ENSP00000440970:p.Pro246Ser					SPHK1_ENST00000323374.4_Missense_Mutation_p.P332S|SPHK1_ENST00000590959.1_Missense_Mutation_p.P260S|SPHK1_ENST00000392496.3_Missense_Mutation_p.P246S|SPHK1_ENST00000592299.1_Missense_Mutation_p.P246S	p.P246S			Q9NYA1	SPHK1_HUMAN			8	1545	+			246					Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	37	c.736C>T	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601439	0.87055	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.28255	1.7;1.62;1.7	5.08	5.08	0.68730	.	0.054040	0.85682	D	0.000000	T	0.45816	0.1361	L	0.43646	1.37	0.58432	D	0.999999	P;P;D	0.71674	0.537;0.942;0.998	B;P;P	0.61003	0.237;0.562;0.882	T	0.30238	-0.9985	10	0.41790	T	0.15	-10.889	18.4809	0.90811	0.0:1.0:0.0:0.0	.	332;260;246	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	S	246;332;246;245	ENSP00000440970:P246S;ENSP00000313681:P332S;ENSP00000376285:P246S	ENSP00000313681:P332S	P	+	1	0	SPHK1	71894843	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.543000	0.60684	2.346000	0.79739	0.563000	0.77884	CCC		0.627	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		16	114	0	0	0	1	0	16	114					T	74383248	C	T	74383248	3	4	79	1	0	0	0	0	1	0	0	0	15098	739	26	2	1058	2	SPHK1	17	74383248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58354	74383248	6811962	17762	28079											
UBE2O	63893	broad.mit.edu	37	chr17	74392554	74392554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtcatgttcttgaggctctCcaggatcttgatggcctctt	10	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74392554C>T	ENST00000319380.7	-	14	2528	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	822					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						TTGAGGCTCTCCAGGATCTTG	0.607																																						ENST00000319380.7																			0				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						c.(2464-2466)Gag>Aag		ubiquitin-conjugating enzyme E2O							117	124	121					17																	74392554		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392554C>T	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.2464G>A	17.37:g.74392554C>T	ENSP00000323687:p.Glu822Lys						p.E822K	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2528	-			822					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2464G>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055298	0.93793	.	.	ENSG00000175931	ENST00000319380	T	0.81247	-1.47	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	L	0.27053	0.805	0.58432	D	0.999997	D	0.63880	0.993	D	0.68192	0.956	T	0.82697	-0.0329	10	0.34782	T	0.22	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	822	Q9C0C9	UBE2O_HUMAN	K	822	ENSP00000323687:E822K	ENSP00000323687:E822K	E	-	1	0	UBE2O	71904149	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.790000	0.69038	2.206000	0.71126	0.462000	0.41574	GAG		0.607	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		46	1323	0	0	0	1	0	46	1323					T	74392554	C	T	74392554	3	4	79	1	0	0	0	0	1	0	0	0	16922	864	30	2	1434	2	UBE2O	17	74392554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9306	74392554	6802656	17763	28080											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74566667	74566667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcccctttatctaggccCtcagggacaggcacgcccag	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74566667C>A	ENST00000225276.5	-	6	1072	c.753G>T	c.(751-753)gaG>gaT	p.E251D	ST6GALNAC2_ENST00000586520.1_5'Flank|RP11-666A8.9_ENST00000588104.1_RNA	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	251					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TATCTAGGCCCTCAGGGACAG	0.577																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(751-753)gaG>gaT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2							66	56	60					17																	74566667		2203	4300	6503	SO:0001583	missense	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74566667C>A	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.753G>T	17.37:g.74566667C>A	ENSP00000225276:p.Glu251Asp					RP11-666A8.9_ENST00000588104.1_RNA	p.E251D	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			6	1072	-			251					Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	c.753G>T	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236109	0.39498	.	.	ENSG00000070731	ENST00000225276	T	0.32753	1.44	5.33	-4.12	0.03916	.	0.608321	0.17340	N	0.177778	T	0.21550	0.0519	L	0.49455	1.56	0.19575	N	0.999968	B	0.23990	0.095	B	0.30105	0.111	T	0.21793	-1.0235	10	0.31617	T	0.26	-21.5136	5.619	0.17448	0.2208:0.2779:0.0:0.5014	.	251	Q9UJ37	SIA7B_HUMAN	D	251	ENSP00000225276:E251D	ENSP00000225276:E251D	E	-	3	2	ST6GALNAC2	72078262	0.002000	0.14202	0.000000	0.03702	0.811000	0.45836	-0.624000	0.05540	-0.528000	0.06366	-0.339000	0.08088	GAG		0.577	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		7	75	1	0	0.00198382	1	0.00200138	7	75					A	74566667	C	A	74566667	3	1	79	1	0	0	0	0	1	0	0	0	15276	680	24	3	387	3	ST6GALNAC2	17	74566667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	174113	74566667	6628543	17764	28081											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74574856	74574856	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acctttcctgtccaagaattCgatgccttggattgaaagaa	8	9	0	3	rs372232557		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74574856C>T	ENST00000225276.5	-	2	487	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	56					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCCAAGAATTCGATGCCTTGG	0.498																																						ENST00000225276.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						c.(166-168)tcG>tcA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2		C		0,4406		0,0,2203	168	141	150		168	-3.3	0	17		150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST6GALNAC2	NM_006456.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		56/375	74574856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10610				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr17:74574856C>T	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"Sialyltransferases"	10867	protein-coding gene	gene with protein product		610137	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)", "sialyltransferase-like 1"	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.168G>A	17.37:g.74574856C>T						ST6GALNAC2_ENST00000586520.1_5'UTR	p.S56S	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN			2	487	-			56					Q12971	Silent	SNP	ENST00000225276.5	37	c.168G>A	CCDS11747.1																																																																																				0.498	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456		50	250	0	0	0	1	0	50	250					T	74574856	C	T	74574856	2	4	79	1	0	0	0	0	0	0	0	1	15276	871	31	1		1	ST6GALNAC2	17	74574856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8189	74574856	6620354	17765	28082											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74621580	74621580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagaaaagcgctcatgGccctcagtgatgaagccata	10	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74621580G>A	ENST00000156626.7	-	9	1834	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	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	545					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						AGCGCTCATGGCCCTCAGTGA	0.483																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1633-1635)ggC>ggT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							65	62	63					17																	74621580		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74621580G>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1635C>T	17.37:g.74621580G>A							p.G545G	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN			9	1834	-			545					Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.1635C>T	CCDS11748.1																																																																																				0.483	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		45	202	0	0	0	1	0	45	202					A	74621580	G	A	74621580	2	1	79	1	0	0	0	0	0	0	0	1	15275	1190	42	2		2	ST6GALNAC1	17	74621580	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46724	74621580	6573630	17766	28083											
MXRA7	439921	broad.mit.edu	37	chr17	74679976	74679976	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggacctaaggaacttgCtacagggaagtgaggtcaga	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74679976C>T	ENST00000355797.3	-	3	509				MXRA7_ENST00000375036.2_Silent_p.*178*|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000589082.1_Silent_p.*23*	NM_001008528.1	NP_001008528.1	P84157	MXRA7_HUMAN	matrix-remodelling associated 7							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						AAGGAACTTGCTACAGGGAAG	0.488																																						ENST00000375036.2																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(532-534)taG>taA		matrix-remodelling associated 7							136	120	125					17																	74679976		2203	4300	6503	SO:0001627	intron_variant	439921					integral to membrane		g.chr17:74679976C>T	BC053983	CCDS32745.1, CCDS32746.1, CCDS45786.1	17q25.1	2007-08-01				ENSG00000182534			7541	protein-coding gene	gene with protein product							Standard	XM_005257382		Approved	FLJ46603, TMAP1, PS1TP1	uc002jsk.1	P84157		ENST00000355797.3:c.500+1177G>A	17.37:g.74679976C>T						MXRA7_ENST00000589082.1_Silent_p.*23*|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000592148.1_Intron|MXRA7_ENST00000355797.3_Intron	p.*178*	NM_001008529.1	NP_001008529.1	P84157	MXRA7_HUMAN			4	591	-			0					Q0P5W3	Silent	SNP	ENST00000355797.3	37	c.534G>A	CCDS32745.1																																																																																				0.488	MXRA7-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450983.1	NM_001008529		46	271	0	0	0	1	0	46	271					T	74679976	C	T	74679976	1	4	79	0	1	0	0	0	0	0	0	0	10045	808	28	2		2	MXRA7	17	74679976	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58396	74679976	6515234	17767	28084											
MFSD11	79157	broad.mit.edu	37	chr17	74771152	74771152	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgctgttgggcatcctGgtgcacttcatagcttttta	11	8	1	0	rs567649684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74771152G>T	ENST00000588460.1	+	11	2990	c.948G>T	c.(946-948)ctG>ctT	p.L316L	MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000586622.1_Silent_p.L316L|MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000336509.4_Silent_p.L316L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	316						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGGCATCCTGGTGCACTTCA	0.453													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19941	0.0		0.0	False		,,,				2504	0.0					ENST00000588460.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(946-948)ctG>ctT		major facilitator superfamily domain containing 11							182	166	172					17																	74771152		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74771152G>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.948G>T	17.37:g.74771152G>T						MFSD11_ENST00000593181.1_Silent_p.L264L|MFSD11_ENST00000336509.4_Silent_p.L316L|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.L316L|MFSD11_ENST00000355954.3_Silent_p.L264L|MFSD11_ENST00000586622.1_Silent_p.L316L	p.L316L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN			11	2990	+			316					O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.948G>T	CCDS11750.1																																																																																				0.453	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		172	671	1	0	5.74082e-73	1	7.30534e-73	172	671					T	74771152	G	T	74771152	2	4	79	1	0	0	0	0	0	0	0	1	9570	1335	47	3		3	MFSD11	17	74771152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91176	74771152	6424058	17768	28085											
MGAT5B	146664	broad.mit.edu	37	chr17	74944060	74944060	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcgcacgccctgcgggCctggctggccgtgcctggga	16	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74944060C>T	ENST00000569840.2	+	17	2646	c.2072C>T	c.(2071-2073)gCc>gTc	p.A691V	RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	691					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						GCCCTGCGGGCCTGGCTGGCC	0.701																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2071-2073)gCc>gTc		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B							21	22	22					17																	74944060		2201	4298	6499	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74944060C>T	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.2072C>T	17.37:g.74944060C>T	ENSP00000456037:p.Ala691Val					MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700V	p.A691V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN			17	2646	+			691					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.2072C>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	C	3.394	-0.123698	0.06795	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.38560	1.14;1.13	4.66	3.66	0.41972	.	0.238298	0.34411	N	0.003988	T	0.10508	0.0257	N	0.01048	-1.04	0.33707	D	0.615329	B;B;B	0.24823	0.018;0.01;0.112	B;B;B	0.22601	0.011;0.007;0.04	T	0.33954	-0.9848	10	0.02654	T	1	-28.8763	4.132	0.10154	0.0:0.4802:0.3008:0.219	.	96;700;689	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	V	689;700	ENSP00000301618:A689V;ENSP00000391227:A700V	ENSP00000301618:A689V	A	+	2	0	MGAT5B	72455655	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.601000	0.36773	2.129000	0.65627	0.557000	0.71058	GCC		0.701	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		26	128	0	0	0	1	0	26	128					T	74944060	C	T	74944060	3	4	79	1	0	0	0	0	1	0	0	0	9590	739	26	2	2229	2	MGAT5B	17	74944060	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172908	74944060	6251150	17769	28086											
SEPT9	10801	broad.mit.edu	37	chr17	75478280	75478280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacacccccagagatgCcgggctcaagcaggcgcctg	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:75478280C>T	ENST00000427177.1	+	4	902	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000329047.8_Missense_Mutation_p.A241V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	259					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)			CCCAGAGATGCCGGGCTCAAG	0.652																																						ENST00000329047.8																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(721-723)gCc>gTc		septin 9							21	27	25					17																	75478280		2020	4182	6202	SO:0001583	missense	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75478280C>T	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.776C>T	17.37:g.75478280C>T	ENSP00000391249:p.Ala259Val					SEPT9_ENST00000449803.2_Missense_Mutation_p.A95V|SEPT9_ENST00000591088.1_Missense_Mutation_p.A8V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A68V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A95V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A240V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000427674.2_Missense_Mutation_p.A95V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A8V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A241V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A147V|SEPT9_ENST00000427177.1_Missense_Mutation_p.A259V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A252V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A35V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A8V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A8V|SEPT9_ENST00000431235.2_Missense_Mutation_p.A95V	p.A241V	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		3	1534	+			259					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.722C>T	CCDS45790.1	.	.	.	.	.	.	.	.	.	.	c	10.19	1.281855	0.23392	.	.	ENSG00000184640	ENST00000427177;ENST00000397613;ENST00000449803;ENST00000329047;ENST00000423034;ENST00000427674;ENST00000541152;ENST00000431235;ENST00000427180	T;T;T;T;T;T	0.47528	1.25;0.87;1.26;1.26;0.87;0.84	5.08	2.48	0.30137	.	1.700500	0.03765	U	0.258872	T	0.42966	0.1226	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B;B;B	0.23806	0.0;0.001;0.012;0.091;0.004;0.001;0.001	B;B;B;B;B;B;B	0.17433	0.001;0.002;0.015;0.018;0.005;0.005;0.002	T	0.20706	-1.0267	10	0.35671	T	0.21	.	6.1871	0.20503	0.0:0.6649:0.1468:0.1882	.	35;240;147;220;252;241;259	Q9UHD8-9;Q9UHD8-7;Q9UHD8-8;Q1WWK5;Q9UHD8-5;Q9UHD8-2;Q9UHD8	.;.;.;.;.;.;SEPT9_HUMAN	V	259;8;95;241;252;95;35;8;147	ENSP00000391249:A259V;ENSP00000400181:A95V;ENSP00000329161:A241V;ENSP00000405877:A252V;ENSP00000403194:A95V;ENSP00000415624:A147V	ENSP00000329161:A241V	A	+	2	0	SEPT9	72989875	0.028000	0.19301	0.001000	0.08648	0.248000	0.25809	0.947000	0.29082	0.407000	0.25591	0.627000	0.83407	GCC		0.652	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		15	73	0	0	0	1	0	15	73					T	75478280	C	T	75478280	3	4	79	1	0	0	0	0	1	0	0	0	14121	739	26	2	1264	2	SEPT9	17	75478280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534220	75478280	5716930	17770	28087											
TNRC6C	57690	broad.mit.edu	37	chr17	76060855	76060855	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactcaaagactgaaaactcTtggggagaaccatcctcccc	7	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76060855T>C	ENST00000588061.1	+	6	3175	c.2448T>C	c.(2446-2448)tcT>tcC	p.S816S	TNRC6C_ENST00000541771.1_Silent_p.S816S|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000544502.1_Silent_p.S813S|TNRC6C_ENST00000335749.4_Silent_p.S813S|TNRC6C_ENST00000301624.4_Silent_p.S816S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	816	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)			CTGAAAACTCTTGGGGAGAAC	0.517																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(2437-2439)tcT>tcC		trinucleotide repeat containing 6C							69	70	70					17																	76060855		1875	4127	6002	SO:0001819	synonymous_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76060855T>C	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.2448T>C	17.37:g.76060855T>C						TNRC6C_ENST00000588061.1_Silent_p.S816S|TNRC6C_ENST00000544502.1_Silent_p.S813S|TNRC6C_ENST00000541771.1_Silent_p.S816S|TNRC6C_ENST00000588847.1_Silent_p.S813S|TNRC6C_ENST00000301624.4_Silent_p.S816S	p.S813S	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	3008	+			816			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.2439T>C	CCDS45798.1																																																																																				0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		60	259	0	0	0	1	0	60	259					C	76060855	T	C	76060855	2	2	79	1	0	0	0	0	0	0	0	1	16394	1596	56	4		4	TNRC6C	17	76060855	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	582575	76060855	5134355	17771	28088											
TNRC6C	57690	broad.mit.edu	37	chr17	76083142	76083142	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcagaccaaagagcagcagtCttcacccaacacctttgctc	7	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76083142C>A	ENST00000588061.1	+	15	4497	c.3770C>A	c.(3769-3771)tCt>tAt	p.S1257Y	TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1257					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)			GAGCAGCAGTCTTCACCCAAC	0.582																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(3760-3762)tCt>tAt		trinucleotide repeat containing 6C							120	131	127					17																	76083142		2140	4248	6388	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76083142C>A	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.3770C>A	17.37:g.76083142C>A	ENSP00000468647:p.Ser1257Tyr					TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1257Y|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1254Y|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1257Y	p.S1254Y	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		13	4330	+			1257					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.3761C>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774969	0.90108	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16897	2.32;2.31;2.31;2.32	5.48	5.48	0.80851	.	0.177279	0.51477	D	0.000081	T	0.36413	0.0966	M	0.61703	1.905	0.80722	D	1	P;P	0.51057	0.892;0.941	P;P	0.56434	0.714;0.798	T	0.01776	-1.1276	10	0.45353	T	0.12	-3.2971	19.3435	0.94355	0.0:1.0:0.0:0.0	.	1254;1257	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	Y	1257;1254;1254;1257;1257;1254	ENSP00000336783:S1254Y;ENSP00000301624:S1257Y;ENSP00000440310:S1257Y;ENSP00000442421:S1254Y	ENSP00000301624:S1257Y	S	+	2	0	TNRC6C	73594737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.604000	0.67626	2.563000	0.86464	0.655000	0.94253	TCT		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		57	545	1	0	2.73361e-28	1	3.17826e-28	57	545					A	76083142	C	A	76083142	3	1	79	1	0	0	0	0	1	0	0	0	16394	913	32	3	3812	3	TNRC6C	17	76083142	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22287	76083142	5112068	17772	28089											
TNRC6C	57690	broad.mit.edu	37	chr17	76089140	76089140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtagctgttccccataGctggtcacgtgccaaatctg	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76089140G>A	ENST00000588061.1	+	17	4824	c.4097G>A	c.(4096-4098)aGc>aAc	p.S1366N	TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1363N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1366	Silencing domain; interaction with CNOT1 and PAN3.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTTCCCCATAGCTGGTCACGT	0.517																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(4087-4089)aGc>aAc		trinucleotide repeat containing 6C							66	64	65					17																	76089140		2002	4187	6189	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76089140G>A	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.4097G>A	17.37:g.76089140G>A	ENSP00000468647:p.Ser1366Asn					TNRC6C_ENST00000588061.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1366N|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1363N|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1366N	p.S1363N	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	4657	+			1366					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.4088G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171830	0.57584	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.16597	2.33;2.35;2.35;2.33	5.97	5.97	0.96955	.	0.038306	0.85682	D	0.000000	T	0.20251	0.0487	L	0.35723	1.085	0.58432	D	0.999999	P;B	0.42409	0.779;0.195	B;B	0.41813	0.367;0.043	T	0.00359	-1.1791	10	0.40728	T	0.16	-26.2854	20.4062	0.99009	0.0:0.0:1.0:0.0	.	1363;1366	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	N	1366;1363;1363;1366;1366;1363	ENSP00000336783:S1363N;ENSP00000301624:S1366N;ENSP00000440310:S1366N;ENSP00000442421:S1363N	ENSP00000301624:S1366N	S	+	2	0	TNRC6C	73600735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.235000	0.72332	2.831000	0.97527	0.655000	0.94253	AGC		0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		35	144	0	0	0	1	0	35	144					A	76089140	G	A	76089140	3	1	79	1	0	0	0	0	1	0	0	0	16394	971	34	2	4147	2	TNRC6C	17	76089140	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5998	76089140	5106070	17773	28090											
TMC6	11322	broad.mit.edu	37	chr17	76120077	76120077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggcattacctgtacaCcagggtgatgcaggtgataa	14	7	0	2	rs145227095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76120077C>T	ENST00000590602.1	-	9	1234	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	359					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)			TACCTGTACACCAGGGTGATG	0.557																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(1075-1077)Gtg>Atg		transmembrane channel-like 6							80	72	74					17																	76120077		2203	4300	6503	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120077C>T	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.1075G>A	17.37:g.76120077C>T	ENSP00000465261:p.Val359Met					TMC6_ENST00000589553.1_Missense_Mutation_p.V132M|TMC6_ENST00000322933.4_De_novo_Start_InFrame|TMC6_ENST00000392467.3_Missense_Mutation_p.V359M|TMC6_ENST00000322914.3_Missense_Mutation_p.V359M|TMC6_ENST00000306591.7_Missense_Mutation_p.V359M	p.V359M			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		9	1234	-			359					O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.1075G>A	CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313848	0.60414	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.65916	-0.18;-0.18;-0.18	4.34	4.34	0.51931	.	0.319446	0.28436	N	0.015355	T	0.73345	0.3575	M	0.62088	1.915	0.80722	D	1	D;P;D;D	0.64830	0.994;0.759;0.959;0.985	D;B;P;P	0.64687	0.928;0.414;0.556;0.838	T	0.75505	-0.3294	10	0.56958	D	0.05	-28.0279	12.4474	0.55659	0.0:0.9134:0.0:0.0866	.	359;132;359;359	Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;TMC6_HUMAN	M	359	ENSP00000313408:V359M;ENSP00000376260:V359M;ENSP00000306405:V359M	ENSP00000306405:V359M	V	-	1	0	TMC6	73631672	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	5.587000	0.67510	1.945000	0.56424	0.455000	0.32223	GTG		0.557	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			53	208	0	0	0	1	0	53	208					T	76120077	C	T	76120077	3	4	79	1	0	0	0	0	1	0	0	0	16041	507	18	2	1390	2	TMC6	17	76120077	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30937	76120077	5075133	17774	28091											
TMC6	11322	broad.mit.edu	37	chr17	76122448	76122448	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtctgctggctacttcCtacaaagcaagaaagactca	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76122448C>T	ENST00000590602.1	-	4	341		c.e4-1		TMC6_ENST00000306591.7_Splice_Site|TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000392467.3_Splice_Site|TMC6_ENST00000322914.3_Splice_Site			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6						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)			TGGCTACTTCCTACAAAGCAA	0.637																																						ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.e4-1		transmembrane channel-like 6							17	21	19					17																	76122448		2190	4294	6484	SO:0001630	splice_region_variant	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76122448C>T	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.182-1G>A	17.37:g.76122448C>T						TMC6_ENST00000589553.1_Splice_Site|TMC6_ENST00000322933.4_Splice_Site|TMC6_ENST00000392467.3_Splice_Site|TMC6_ENST00000322914.3_Splice_Site|TMC6_ENST00000306591.7_Splice_Site				Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	341	-								O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Splice_Site	SNP	ENST00000590602.1	37		CCDS32748.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165376	0.21538	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.35357	D	0.787859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0394	0.58891	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMC6	73634043	0.348000	0.24861	0.022000	0.16811	0.039000	0.13416	5.236000	0.65354	1.867000	0.54127	0.561000	0.74099	.		0.637	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1		Intron	21	62	0	0	0	1	0	21	62					T	76122448	C	T	76122448	5	4	79	1	0	0	0	0	0	0	1	0	16041	695	24	2	2304	2	TMC6	17	76122448	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2371	76122448	5072762	17775	28092											
TMC8	147138	broad.mit.edu	37	chr17	76128508	76128508	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctactcaacctgctgAgcctgctgctcaccgcaagc	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76128508A>G	ENST00000318430.5	+	4	741	c.367A>G	c.(367-369)Agc>Ggc	p.S123G	TMC8_ENST00000589691.1_5'UTR|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	123					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)			CAACCTGCTGAGCCTGCTGCT	0.642																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(367-369)Agc>Ggc		transmembrane channel-like 8							49	37	41					17																	76128508		2200	4300	6500	SO:0001583	missense	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76128508A>G	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.367A>G	17.37:g.76128508A>G	ENSP00000325561:p.Ser123Gly					TMC8_ENST00000589691.1_5'UTR	p.S123G	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		4	741	+			123					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.367A>G	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465858	0.26335	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.55413	0.52	4.13	4.13	0.48395	.	0.610314	0.17676	N	0.165800	T	0.35128	0.0921	N	0.25245	0.725	0.39951	D	0.974545	B	0.21381	0.055	B	0.16722	0.016	T	0.30880	-0.9963	10	0.54805	T	0.06	-27.8647	6.1247	0.20172	0.8852:0.0:0.1148:0.0	.	123	Q8IU68	TMC8_HUMAN	G	123	ENSP00000325561:S123G	ENSP00000301627:S123G	S	+	1	0	TMC8	73640103	0.134000	0.22483	0.780000	0.31762	0.293000	0.27360	1.004000	0.29822	1.738000	0.51689	0.459000	0.35465	AGC		0.642	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			10	108	0	0	0	1	0	10	108					G	76128508	A	G	76128508	3	3	79	1	0	0	0	0	1	0	0	0	16043	304	11	4	377	4	TMC8	17	76128508	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6060	76128508	5066702	17776	28093											
AFMID	125061	broad.mit.edu	37	chr17	76187079	76187079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcagtactgtcccagccGatgggttgtccgactgggag	14	10	1	0	rs369400202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76187079G>A	ENST00000586731.1	+	2	62	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000409257.5_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TGTCCCAGCCGATGGGTTGTC	0.567																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(91-93)cGa>cAa		arylformamidase		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	114	83	93		92,92	1.7	1	17		93	0,8600		0,0,4300	no	missense,missense	AFMID	NM_001010982.4,NM_001145526.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	31/304,31/309	76187079	1,13005	2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76187079G>A	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000586731.1:c.41G>A	17.37:g.76187079G>A	ENSP00000466241:p.Arg14Gln					AFMID_ENST00000591952.1_Missense_Mutation_p.R31Q|AFMID_ENST00000589256.1_Missense_Mutation_p.R31Q|AFMID_ENST00000586731.1_Missense_Mutation_p.R14Q|AFMID_ENST00000588800.1_Missense_Mutation_p.R31Q|AFMID_ENST00000327898.5_Missense_Mutation_p.R31Q	p.R31Q	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		2	146	+			31						Missense_Mutation	SNP	ENST00000586731.1	37	c.92G>A		.	.	.	.	.	.	.	.	.	.	G	4.510	0.094635	0.08681	2.27E-4	0.0	ENSG00000183077	ENST00000409257;ENST00000409431;ENST00000409722;ENST00000392388;ENST00000327898	.	.	.	4.81	1.68	0.24146	.	0.599357	0.14078	N	0.342936	T	0.19685	0.0473	N	0.21194	0.64	0.20563	N	0.999889	B;P;B;B	0.34462	0.029;0.454;0.001;0.006	B;B;B;B	0.23852	0.033;0.049;0.002;0.007	T	0.11665	-1.0578	9	0.18276	T	0.48	-3.4178	11.125	0.48312	0.2104:0.0:0.7896:0.0	.	31;31;31;31	A5PLM3;B8ZZB1;Q63HM1;Q63HM1-2	.;.;AFMID_HUMAN;.	Q	31	.	ENSP00000328938:R31Q	R	+	2	0	AFMID	73698674	1.000000	0.71417	0.953000	0.39169	0.005000	0.04900	1.756000	0.38390	-0.116000	0.11893	-1.307000	0.01316	CGA		0.567	AFMID-015	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000438866.1	XM_058889		7	165	0	0	0	1	0	7	165					A	76187079	G	A	76187079	3	1	79	1	0	0	0	0	1	0	0	0	362	1058	37	1	98	1	AFMID	17	76187079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58571	76187079	5008131	17777	28094											
AFMID	125061	broad.mit.edu	37	chr17	76200768	76200768	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccttcatggtccacccgCtgacggcacagggagtggcc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76200768C>T	ENST00000327898.5	+	5	349	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AFMID_ENST00000588800.1_Intron|AFMID_ENST00000409257.5_Silent_p.L114L|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGTCCACCCGCTGACGGCACA	0.592																																						ENST00000409257.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19						c.(340-342)Ctg>Ttg		arylformamidase							97	69	78					17																	76200768		2203	4300	6503	SO:0001819	synonymous_variant	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76200768C>T	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.340C>T	17.37:g.76200768C>T						AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000327898.5_Silent_p.L114L	p.L114L	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		5	394	+			114						Silent	SNP	ENST00000327898.5	37	c.340C>T	CCDS45801.1																																																																																				0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		28	200	0	0	0	1	0	28	200					T	76200768	C	T	76200768	2	4	79	1	0	0	0	0	0	0	0	1	362	796	28	2		2	AFMID	17	76200768	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13689	76200768	4994442	17778	28095											
SOCS3	9021	broad.mit.edu	37	chr17	76354664	76354664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccagggggatcttctcGcccccggagtagatgtaata	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76354664G>A	ENST00000330871.2	-	2	928	c.513C>T	c.(511-513)ggC>ggT	p.G171G	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	171					branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GGATCTTCTCGCCCCCGGAGT	0.637																																						ENST00000330871.2																			0				kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6						c.(511-513)ggC>ggT		suppressor of cytokine signaling 3							29	32	31					17																	76354664		2202	4299	6501	SO:0001819	synonymous_variant	0				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	g.chr17:76354664G>A	AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.513C>T	17.37:g.76354664G>A							p.G171G	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		2	928	-			171					O14509	Silent	SNP	ENST00000330871.2	37	c.513C>T	CCDS11756.1																																																																																				0.637	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			8	275	0	0	0	1	0	8	275					A	76354664	G	A	76354664	2	1	79	1	0	0	0	0	0	0	0	1	14965	1074	38	1		1	SOCS3	17	76354664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153896	76354664	4840546	17779	28096											
DNAH17	8632	broad.mit.edu	37	chr17	76430117	76430117	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacagcccctcaccttggggTtggcctccaggtagttgtag	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76430117T>C	ENST00000585328.1	-	75	12327	c.12203A>G	c.(12202-12204)aAc>aGc	p.N4068S	DNAH17_ENST00000389840.5_Missense_Mutation_p.N4067S|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4067					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)			CACCTTGGGGTTGGCCTCCAG	0.612																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(12199-12201)aAc>aGc		dynein, axonemal, heavy chain 17							225	183	198					17																	76430117		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76430117T>C	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.12203A>G	17.37:g.76430117T>C	ENSP00000465516:p.Asn4068Ser					DNAH17_ENST00000585328.1_Missense_Mutation_p.N4068S|DNAH17_ENST00000586052.1_5'UTR	p.N4067S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		75	12324	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.12200A>G		.	.	.	.	.	.	.	.	.	.	T	16.15	3.040736	0.55003	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08896	3.04	5.64	4.57	0.56435	.	0.184935	0.37669	N	0.002000	T	0.10465	0.0256	L	0.45137	1.4	0.39459	D	0.96753	B	0.31790	0.34	B	0.38056	0.264	T	0.14811	-1.0459	10	0.35671	T	0.21	.	11.5876	0.50927	0.0:0.0698:0.0:0.9301	.	4068	E7EUM8	.	S	4068;4067	ENSP00000374490:N4067S	ENSP00000300671:N4068S	N	-	2	0	DNAH17	73941712	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.891000	0.87319	0.990000	0.38787	0.454000	0.30748	AAC		0.612	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		120	588	0	0	0	1	0	120	588					C	76430117	T	C	76430117	3	2	79	1	0	0	0	0	1	0	0	0	4617	1725	60	4	1198	4	DNAH17	17	76430117	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	75453	76430117	4765093	17780	28097											
DNAH17	8632	broad.mit.edu	37	chr17	76450748	76450748	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccgcgtcatctgtcagcaGgctcaagggatccaggccat	12	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76450748G>T	ENST00000585328.1	-	64	10319	c.10195C>A	c.(10195-10197)Ctg>Atg	p.L3399M	DNAH17_ENST00000389840.5_Missense_Mutation_p.L3390M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3390	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGTCAGCAGGCTCAAGGGA	0.587																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10168-10170)Ctg>Atg		dynein, axonemal, heavy chain 17							91	76	81					17																	76450748		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76450748G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10195C>A	17.37:g.76450748G>T	ENSP00000465516:p.Leu3399Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.L3399M|DNAH17_ENST00000586052.1_5'UTR	p.L3390M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		64	10292	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10168C>A		.	.	.	.	.	.	.	.	.	.	G	4.642	0.119399	0.08881	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.25579	1.79	5.21	4.23	0.50019	.	0.000000	0.48767	D	0.000175	T	0.13072	0.0317	N	0.10707	0.03	0.35803	D	0.823276	B	0.23937	0.094	B	0.31390	0.129	T	0.12708	-1.0537	10	0.05721	T	0.95	.	12.8723	0.57972	0.0:0.0:0.7035:0.2965	.	3399	E7EUM8	.	M	3399;3390	ENSP00000374490:L3390M	ENSP00000300671:L3399M	L	-	1	2	DNAH17	73962343	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	1.531000	0.36018	1.152000	0.42452	0.655000	0.94253	CTG		0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		56	268	1	0	1.93748e-29	1	2.26412e-29	56	268					T	76450748	G	T	76450748	3	4	79	1	0	0	0	0	1	0	0	0	4617	991	35	3	3250	3	DNAH17	17	76450748	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20631	76450748	4744462	17781	28098											
DNAH17	8632	broad.mit.edu	37	chr17	76451842	76451842	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggacgtccccacacaGcgtgaccccctggctcctga	11	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76451842G>T	ENST00000585328.1	-	63	10163	c.10039C>A	c.(10039-10041)Ctg>Atg	p.L3347M	DNAH17_ENST00000389840.5_Missense_Mutation_p.L3338M|DNAH17_ENST00000586052.1_Intron	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3338					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)			TCCCCACACAGCGTGACCCCC	0.532																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(10012-10014)Ctg>Atg		dynein, axonemal, heavy chain 17							89	68	75					17																	76451842		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76451842G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10039C>A	17.37:g.76451842G>T	ENSP00000465516:p.Leu3347Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.L3347M|DNAH17_ENST00000586052.1_Intron	p.L3338M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		63	10136	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.10012C>A		.	.	.	.	.	.	.	.	.	.	G	15.74	2.923168	0.52653	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.81579	-1.51	5.06	3.88	0.44766	.	0.000000	0.47093	D	0.000245	D	0.88340	0.6410	M	0.85197	2.74	0.30684	N	0.752072	D	0.71674	0.998	D	0.69479	0.964	D	0.85895	0.1431	10	0.59425	D	0.04	.	9.4508	0.38725	0.2271:0.0:0.7729:0.0	.	3347	E7EUM8	.	M	3347;3338	ENSP00000374490:L3338M	ENSP00000300671:L3347M	L	-	1	2	DNAH17	73963437	0.791000	0.28800	0.926000	0.36857	0.642000	0.38348	1.082000	0.30803	2.334000	0.79466	0.655000	0.94253	CTG		0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		22	99	1	0	7.92952e-12	1	8.47903e-12	22	99					T	76451842	G	T	76451842	3	4	79	1	0	0	0	0	1	0	0	0	4617	962	34	3	3410	3	DNAH17	17	76451842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1094	76451842	4743368	17782	28099											
DNAH17	8632	broad.mit.edu	37	chr17	76458993	76458993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgattttggcaacaagttccGttctcttcttggccagcagg	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76458993G>A	ENST00000585328.1	-	57	9216	c.9092C>T	c.(9091-9093)aCg>aTg	p.T3031M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T3022M|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3022	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACAAGTTCCGTTCTCTTCTT	0.557																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9064-9066)aCg>aTg		dynein, axonemal, heavy chain 17							147	135	139					17																	76458993		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76458993G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9092C>T	17.37:g.76458993G>A	ENSP00000465516:p.Thr3031Met					DNAH17_ENST00000585328.1_Missense_Mutation_p.T3031M|DNAH17_ENST00000586052.1_5'UTR	p.T3022M					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9189	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9065C>T		.	.	.	.	.	.	.	.	.	.	G	3.792	-0.043442	0.07452	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.39997	1.05	5.04	-3.41	0.04839	.	0.538280	0.17352	N	0.177358	T	0.27169	0.0666	L	0.52266	1.64	0.19300	N	0.999972	B	0.16396	0.017	B	0.14578	0.011	T	0.13388	-1.0511	10	0.44086	T	0.13	.	2.5082	0.04650	0.3344:0.252:0.3156:0.0981	.	3031	E7EUM8	.	M	3031;3022	ENSP00000374490:T3022M	ENSP00000300671:T3031M	T	-	2	0	DNAH17	73970588	0.000000	0.05858	0.315000	0.25238	0.055000	0.15305	-1.529000	0.02223	-0.638000	0.05509	-1.281000	0.01382	ACG		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		52	238	0	0	0	1	0	52	238					A	76458993	G	A	76458993	3	1	79	1	0	0	0	0	1	0	0	0	4617	1145	40	1	4381	1	DNAH17	17	76458993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7151	76458993	4736217	17783	28100											
DNAH17	8632	broad.mit.edu	37	chr17	76475586	76475586	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggccgcggccaccagCtggctgcttatcctctggat	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76475586C>T	ENST00000585328.1	-	50	7990	c.7866G>A	c.(7864-7866)caG>caA	p.Q2622Q	DNAH17_ENST00000389840.5_Silent_p.Q2613Q|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2613	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(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)			CGGCCACCAGCTGGCTGCTTA	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7837-7839)caG>caA		dynein, axonemal, heavy chain 17							55	59	58					17																	76475586		1977	4142	6119	SO:0001819	synonymous_variant	8632							g.chr17:76475586C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7866G>A	17.37:g.76475586C>T						DNAH17_ENST00000585328.1_Silent_p.Q2622Q|DNAH17_ENST00000586052.1_5'UTR	p.Q2613Q					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		50	7963	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.7839G>A																																																																																					0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		58	262	0	0	0	1	0	58	262					T	76475586	C	T	76475586	2	4	79	1	0	0	0	0	0	0	0	1	4617	796	28	2		2	DNAH17	17	76475586	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16593	76475586	4719624	17784	28101											
DNAH17	8632	broad.mit.edu	37	chr17	76482324	76482324	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acctggtcctggaacatggcGccaccgaaggcccagaagca	12	14	0	1	rs141022219		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76482324G>T	ENST00000585328.1	-	45	7192	c.7068C>A	c.(7066-7068)ggC>ggA	p.G2356G	RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Silent_p.G2347G|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2347					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)			GGAACATGGCGCCACCGAAGG	0.622																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7039-7041)ggC>ggA		dynein, axonemal, heavy chain 17							35	39	38					17																	76482324		2005	4149	6154	SO:0001819	synonymous_variant	8632							g.chr17:76482324G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7068C>A	17.37:g.76482324G>T						RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.G2356G|DNAH17_ENST00000586052.1_5'UTR	p.G2347G					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		45	7165	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.7041C>A																																																																																					0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		39	184	1	0	1.60099e-16	1	1.75945e-16	39	184					T	76482324	G	T	76482324	2	4	79	1	0	0	0	0	0	0	0	1	4617	1074	38	3		3	DNAH17	17	76482324	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6738	76482324	4712886	17785	28102											
DNAH17	8632	broad.mit.edu	37	chr17	76496430	76496430	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagacgtagaccatgGtgcccagggctctgcccagg	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76496430G>A	ENST00000585328.1	-	36	5706	c.5582C>T	c.(5581-5583)aCc>aTc	p.T1861I	DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D|DNAH17_ENST00000389840.5_Missense_Mutation_p.T1852I|RP11-559N14.5_ENST00000591373.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1852	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAGACCATGGTGCCCAGGGC	0.622																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5554-5556)aCc>aTc		dynein, axonemal, heavy chain 17							27	31	30					17																	76496430		2003	4199	6202	SO:0001583	missense	8632							g.chr17:76496430G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5582C>T	17.37:g.76496430G>A	ENSP00000465516:p.Thr1861Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.T1861I|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.G121D	p.T1852I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		36	5679	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5555C>T		.	.	.	.	.	.	.	.	.	.	G	4.354	0.065090	0.08388	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.07444	3.19	4.07	2.04	0.26737	.	.	.	.	.	T	0.01287	0.0042	N	0.00113	-2.09	0.31028	N	0.717726	.	.	.	.	.	.	T	0.42310	-0.9459	7	0.02654	T	1	.	4.5718	0.12214	0.4621:0.0:0.5378:0.0	.	.	.	.	I	1861;1852	ENSP00000374490:T1852I	ENSP00000300671:T1861I	T	-	2	0	DNAH17	74008025	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.270000	0.58896	1.055000	0.40461	0.448000	0.29417	ACC		0.622	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		22	74	0	0	0	1	0	22	74					A	76496430	G	A	76496430	3	1	79	1	0	0	0	0	1	0	0	0	4617	1261	44	2	7975	2	DNAH17	17	76496430	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14106	76496430	4698780	17786	28103											
DNAH17	8632	broad.mit.edu	37	chr17	76498715	76498715	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagcgttttcatagccttcCtccagcctggcaaatgccag	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76498715C>A	ENST00000585328.1	-	33	5263	c.5139G>T	c.(5137-5139)gaG>gaT	p.E1713D	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E1705D	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1705	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAGCCTTCCTCCAGCCTGG	0.478																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(5113-5115)gaG>gaT		dynein, axonemal, heavy chain 17							61	65	64					17																	76498715		2033	4223	6256	SO:0001583	missense	8632							g.chr17:76498715C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5139G>T	17.37:g.76498715C>A	ENSP00000465516:p.Glu1713Asp					DNAH17_ENST00000585328.1_Missense_Mutation_p.E1713D|DNAH17-AS1_ENST00000598378.1_3'UTR	p.E1705D					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		33	5239	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.5115G>T		.	.	.	.	.	.	.	.	.	.	C	15.65	2.897077	0.52121	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.27557	1.66	5.5	3.15	0.36227	.	.	.	.	.	T	0.48187	0.1486	M	0.83223	2.63	0.33228	D	0.55551	.	.	.	.	.	.	T	0.62765	-0.6785	7	0.54805	T	0.06	.	9.4777	0.38882	0.0:0.7015:0.0:0.2985	.	.	.	.	D	1713;1705	ENSP00000374490:E1705D	ENSP00000300671:E1713D	E	-	3	2	DNAH17	74010310	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	1.856000	0.39389	1.299000	0.44798	0.448000	0.29417	GAG		0.478	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		30	127	1	0	1.32181e-22	1	1.49747e-22	30	127					A	76498715	C	A	76498715	3	1	79	1	0	0	0	0	1	0	0	0	4617	680	24	3	8436	3	DNAH17	17	76498715	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2285	76498715	4696495	17787	28104											
DNAH17	8632	broad.mit.edu	37	chr17	76565528	76565528	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcagcacatttacagCcagggagatgccactcagga	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76565528C>A	ENST00000585328.1	-	8	1250	c.1126G>T	c.(1126-1128)Gct>Tct	p.A376S	DNAH17_ENST00000389840.5_Missense_Mutation_p.A376S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	376	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACATTTACAGCCAGGGAGATG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1126-1128)Gct>Tct		dynein, axonemal, heavy chain 17							86	63	71					17																	76565528		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76565528C>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1126G>T	17.37:g.76565528C>A	ENSP00000465516:p.Ala376Ser					DNAH17_ENST00000585328.1_Missense_Mutation_p.A376S	p.A376S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		8	1250	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1126G>T		.	.	.	.	.	.	.	.	.	.	C	0.011	-1.696638	0.00725	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55052	0.54	4.65	2.34	0.29019	.	0.538685	0.15187	N	0.275778	T	0.31796	0.0808	N	0.12502	0.225	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.19128	-1.0315	10	0.12430	T	0.62	.	11.712	0.51630	0.4394:0.5606:0.0:0.0	.	78	Q9UFH2-4	.	S	376	ENSP00000374490:A376S	ENSP00000300671:A376S	A	-	1	0	DNAH17	74077123	0.391000	0.25221	0.521000	0.27850	0.023000	0.10783	0.593000	0.23999	0.163000	0.19507	-0.410000	0.06199	GCT		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		18	83	1	0	5.35267e-07	1	5.54261e-07	18	83					A	76565528	C	A	76565528	3	1	79	1	0	0	0	0	1	0	0	0	4617	739	26	3	12558	3	DNAH17	17	76565528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66813	76565528	4629682	17788	28105											
USP36	57602	broad.mit.edu	37	chr17	76799818	76799818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgagcccagcctctgcGgctctcccacaaaggtcttt	8	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	ENST00000542802.3	-	16	2902	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Missense_Mutation_p.P820L			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	820					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)			CAGCCTCTGCGGCTCTCCCAC	0.622																																						ENST00000312010.6																			0				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						c.(2458-2460)cCg>cTg		ubiquitin specific peptidase 36							24	29	28					17																	76799818		2165	4269	6434	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76799818G>A	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.2459C>T	17.37:g.76799818G>A	ENSP00000441214:p.Pro820Leu					USP36_ENST00000449938.2_Intron|USP36_ENST00000542802.2_Missense_Mutation_p.P820L	p.P820L	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		16	2783	-			820					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.2459C>T	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	A	7.663	0.685435	0.14973	.	.	ENSG00000055483	ENST00000312010;ENST00000542802	T;T	0.06608	3.28;3.28	5.19	-2.67	0.06059	.	2.273500	0.01508	N	0.017791	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40739	-0.9547	10	0.27785	T	0.31	.	8.3188	0.32117	0.1328:0.0:0.6159:0.2513	.	820;820	Q9P275;Q9P275-2	UBP36_HUMAN;.	L	820	ENSP00000310590:P820L;ENSP00000441214:P820L	ENSP00000310590:P820L	P	-	2	0	USP36	74311413	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.705000	0.01896	-0.311000	0.08754	-0.254000	0.11334	CCG		0.622	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		36	256	0	0	0	1	0	36	256					A	76799818	G	A	76799818	3	1	79	1	0	0	0	0	1	0	0	0	17121	1116	39	1	932	1	USP36	17	76799818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234290	76799818	4395392	17789	28106											
USP36	57602	broad.mit.edu	37	chr17	76803497	76803497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttctgggggaaaagtgCtgtggaggagctggcttctt	17	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	ENST00000542802.3	-	14	2072	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000312010.6_Silent_p.Q543Q			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	543					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)			GGGAAAAGTGCTGTGGAGGAG	0.602																																						ENST00000312010.6																			0				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						c.(1627-1629)caG>caA		ubiquitin specific peptidase 36							62	61	61					17																	76803497		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76803497C>T	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.1629G>A	17.37:g.76803497C>T						USP36_ENST00000449938.2_Silent_p.Q243Q|USP36_ENST00000542802.2_Silent_p.Q543Q	p.Q543Q	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	1953	-			543					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.1629G>A	CCDS32755.1																																																																																				0.602	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		39	194	0	0	0	1	0	39	194					T	76803497	C	T	76803497	2	4	79	1	0	0	0	0	0	0	0	1	17121	796	28	2		2	USP36	17	76803497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3679	76803497	4391713	17790	28107											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967886	76967886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaatggtgcgatctgagccGccagacttggtgaggcccag	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76967886G>A	ENST00000262776.3	-	6	1838	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	510					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)			GATCTGAGCCGCCAGACTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1528-1530)ggC>ggT		lectin, galactoside-binding, soluble, 3 binding protein							52	47	49					17																	76967886		2203	4300	6503	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967886G>A	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.1530C>T	17.37:g.76967886G>A			OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.G510G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1838	-			510					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.1530C>T	CCDS11759.1																																																																																				0.612	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		43	175	0	0	0	1	0	43	175					A	76967886	G	A	76967886	2	1	79	1	0	0	0	0	0	0	0	1	8775	1074	38	1		1	LGALS3BP	17	76967886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164389	76967886	4227324	17791	28108											
LGALS3BP	3959	broad.mit.edu	37	chr17	76969225	76969225	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgctgatggacaggtcgcaGccccgctggctgtcaaagat	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76969225G>T	ENST00000262776.3	-	5	764	c.456C>A	c.(454-456)ggC>ggA	p.G152G	LGALS3BP_ENST00000585407.1_Silent_p.G152G|LGALS3BP_ENST00000591778.1_Intron	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	152					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)			ACAGGTCGCAGCCCCGCTGGC	0.647																																					GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(454-456)ggC>ggA		lectin, galactoside-binding, soluble, 3 binding protein							27	24	25					17																	76969225		2202	4300	6502	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76969225G>T	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.456C>A	17.37:g.76969225G>T						LGALS3BP_ENST00000591778.1_Intron|LGALS3BP_ENST00000585407.1_Silent_p.G152G	p.G152G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		5	764	-			152					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.456C>A	CCDS11759.1																																																																																				0.647	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		5	78	1	0	0.00116845	1	0.00118049	5	78					T	76969225	G	T	76969225	2	4	79	1	0	0	0	0	0	0	0	1	8775	958	34	3		3	LGALS3BP	17	76969225	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1339	76969225	4225985	17792	28109											
C1QTNF1	114897	broad.mit.edu	37	chr17	77042743	77042743	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctccatgtacccggcgaccGccgtgccccagatcaacatc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77042743G>T	ENST00000339142.2	+	4	817	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	88					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGCGACCGCCGTGCCCCA	0.597											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(262-264)Gcc>Tcc		C1q and tumor necrosis factor related protein 1							74	75	75					17																	77042743		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77042743G>T	AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.262G>T	17.37:g.77042743G>T	ENSP00000340864:p.Ala88Ser		OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A6S|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A98S|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A88S|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A88S|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A6S	p.A88S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		4	817	+			88					Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.262G>T	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	g	2.674	-0.276982	0.05679	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.94232	-3.38;-1.51;-3.38	4.21	2.14	0.27477	.	0.290748	0.24652	N	0.036704	D	0.83018	0.5163	N	0.08118	0	0.09310	N	1	B;B;B	0.27823	0.19;0.19;0.116	B;B;B	0.30105	0.111;0.111;0.111	T	0.69658	-0.5086	10	0.14252	T	0.57	.	10.5504	0.45085	0.0:0.5937:0.4063:0.0	.	98;98;88	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	S	88;6;98;88;98	ENSP00000340864:A88S;ENSP00000311265:A6S;ENSP00000343230:A98S	ENSP00000311265:A6S	A	+	1	0	C1QTNF1	74554338	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.715000	0.25822	0.489000	0.27749	-0.319000	0.08680	GCC		0.597	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		112	534	1	0	3.70905e-73	1	4.72081e-73	112	534					T	77042743	G	T	77042743	3	4	79	1	0	0	0	0	1	0	0	0	1969	1087	38	3	268	3	C1QTNF1	17	77042743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73518	77042743	4152467	17793	28110											
C1QTNF1	114897	broad.mit.edu	37	chr17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttgttcgcgcaggtgggcGaccgcagcatcatgcaaagc	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577																																						ENST00000339142.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14						c.(679-681)Gac>Aac		C1q and tumor necrosis factor related protein 1							133	104	114					17																	77044003		2203	4300	6503	SO:0001583	missense	114897					collagen		g.chr17:77044003G>A	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.679G>A	17.37:g.77044003G>A	ENSP00000340864:p.Asp227Asn					C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N	p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)		5	1234	+			227			C1q.		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	c.679G>A	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331789	0.81801	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.21734	1.99;1.99;1.99	5.21	5.21	0.72293	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.47488	0.1448	M	0.71920	2.185	0.80722	D	1	D;D;D	0.89917	0.977;0.977;1.0	P;P;D	0.74348	0.701;0.701;0.983	T	0.42632	-0.9440	10	0.49607	T	0.09	.	18.7566	0.91835	0.0:0.0:1.0:0.0	.	237;237;227	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	227;145;237;227;237	ENSP00000340864:D227N;ENSP00000311265:D145N;ENSP00000343230:D237N	ENSP00000311265:D145N	D	+	1	0	C1QTNF1	74555598	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.787000	0.99055	2.430000	0.82344	0.561000	0.74099	GAC		0.577	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968		62	288	0	0	0	1	0	62	288					A	77044003	G	A	77044003	3	1	79	1	0	0	0	0	1	0	0	0	1969	1058	37	1	689	1	C1QTNF1	17	77044003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1260	77044003	4151207	17794	28111											
ENPP7	339221	broad.mit.edu	37	chr17	77708906	77708906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaaggggtggctgtgaCgcggagccggaaagaaggca	17	9	0	2	rs376880357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77708906C>T	ENST00000328313.5	+	3	685	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTGGCTGTGACGCGGAGCCGG	0.592																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(463-465)aCg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 7		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	62	51	55		464	4	0.8	17		55	0,8600		0,0,4300	no	missense	ENPP7	NM_178543.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	155/459	77708906	1,13005	2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77708906C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.464C>T	17.37:g.77708906C>T	ENSP00000332656:p.Thr155Met						p.T155M	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	685	+			155						Missense_Mutation	SNP	ENST00000328313.5	37	c.464C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924791	0.18056	2.27E-4	0.0	ENSG00000182156	ENST00000328313	T	0.73152	-0.72	5.0	3.98	0.46160	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.685970	0.03101	N	0.161042	T	0.78027	0.4219	M	0.84156	2.68	0.09310	N	1	P	0.44478	0.836	P	0.44623	0.455	T	0.62845	-0.6768	10	0.44086	T	0.13	-9.8491	9.2231	0.37388	0.3944:0.4916:0.114:0.0	.	155	Q6UWV6	ENPP7_HUMAN	M	155	ENSP00000332656:T155M	ENSP00000332656:T155M	T	+	2	0	ENPP7	75323501	0.005000	0.15991	0.848000	0.33437	0.200000	0.23975	1.814000	0.38972	2.308000	0.77769	0.591000	0.81541	ACG		0.592	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		7	343	0	0	0	1	0	7	343					T	77708906	C	T	77708906	3	4	79	1	0	0	0	0	1	0	0	0	5153	536	19	1	474	1	ENPP7	17	77708906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	664903	77708906	3486304	17795	28112											
ENPP7	339221	broad.mit.edu	37	chr17	77709051	77709051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccggactccacgggccaCaggtacggccccgagtcccc	13	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709051C>T	ENST00000328313.5	+	3	830	c.609C>T	c.(607-609)caC>caT	p.H203H		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACGGGCCACAGGTACGGCC	0.657																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(607-609)caC>caT		ectonucleotide pyrophosphatase/phosphodiesterase 7							50	46	48					17																	77709051		2203	4300	6503	SO:0001819	synonymous_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709051C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.609C>T	17.37:g.77709051C>T							p.H203H	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	830	+			203						Silent	SNP	ENST00000328313.5	37	c.609C>T	CCDS11763.1																																																																																				0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		50	252	0	0	0	1	0	50	252					T	77709051	C	T	77709051	2	4	79	1	0	0	0	0	0	0	0	1	5153	477	17	2		2	ENPP7	17	77709051	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145	77709051	3486159	17796	28113											
ENPP7	339221	broad.mit.edu	37	chr17	77709091	77709091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaggagggagatggtgCggcaggtggaccggaccgtg	22	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709091C>T	ENST00000328313.5	+	3	870	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGATGGTGCGGCAGGTGGA	0.657																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(649-651)Cgg>Tgg		ectonucleotide pyrophosphatase/phosphodiesterase 7							46	46	46					17																	77709091		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709091C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.649C>T	17.37:g.77709091C>T	ENSP00000332656:p.Arg217Trp						p.R217W	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	870	+			217						Missense_Mutation	SNP	ENST00000328313.5	37	c.649C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456406	0.63401	.	.	ENSG00000182156	ENST00000328313	T	0.74842	-0.88	4.75	-7.62	0.01294	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.834740	0.03017	N	0.150178	T	0.77698	0.4169	M	0.70275	2.135	0.09310	N	1	D	0.63046	0.992	P	0.58970	0.849	T	0.73824	-0.3861	10	0.72032	D	0.01	-3.7225	2.7238	0.05208	0.3744:0.241:0.2928:0.0918	.	217	Q6UWV6	ENPP7_HUMAN	W	217	ENSP00000332656:R217W	ENSP00000332656:R217W	R	+	1	2	ENPP7	75323686	0.000000	0.05858	0.015000	0.15790	0.864000	0.49448	-0.162000	0.10012	-0.936000	0.03723	-0.282000	0.10007	CGG		0.657	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		63	238	0	0	0	1	0	63	238					T	77709091	C	T	77709091	3	4	79	1	0	0	0	0	1	0	0	0	5153	759	27	1	659	1	ENPP7	17	77709091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	77709091	3486119	17797	28114											
ENPP7	339221	broad.mit.edu	37	chr17	77711050	77711050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctactctgctgcccatgCtgcacacaggtgagggcagg	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711050C>T	ENST00000328313.5	+	4	1458	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCCCATGCTGCACACAGG	0.637																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1237-1239)Ctg>Ttg		ectonucleotide pyrophosphatase/phosphodiesterase 7							28	24	25					17																	77711050		2202	4300	6502	SO:0001819	synonymous_variant	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711050C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1237C>T	17.37:g.77711050C>T							p.L413L	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1458	+			413						Silent	SNP	ENST00000328313.5	37	c.1237C>T	CCDS11763.1																																																																																				0.637	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		11	107	0	0	0	1	0	11	107					T	77711050	C	T	77711050	2	4	79	1	0	0	0	0	0	0	0	1	5153	796	28	2		2	ENPP7	17	77711050	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1959	77711050	3484160	17798	28115											
ENPP7	339221	broad.mit.edu	37	chr17	77711769	77711769	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccaagggaagatctgCtctcccgcccagcagcaggc	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711769C>A	ENST00000328313.5	+	5	1522	c.1301C>A	c.(1300-1302)gCt>gAt	p.A434D		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAAGATCTGCTCTCCCGCCC	0.597																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1300-1302)gCt>gAt		ectonucleotide pyrophosphatase/phosphodiesterase 7							109	98	102					17																	77711769		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77711769C>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1301C>A	17.37:g.77711769C>A	ENSP00000332656:p.Ala434Asp						p.A434D	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1522	+			434						Missense_Mutation	SNP	ENST00000328313.5	37	c.1301C>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	4.545	0.101210	0.08731	.	.	ENSG00000182156	ENST00000328313	T	0.74106	-0.81	2.32	2.32	0.28847	.	1.464090	0.05503	U	0.558779	T	0.53077	0.1774	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.38954	0.286	T	0.50499	-0.8821	10	0.33141	T	0.24	.	8.2235	0.31556	0.0:1.0:0.0:0.0	.	434	Q6UWV6	ENPP7_HUMAN	D	434	ENSP00000332656:A434D	ENSP00000332656:A434D	A	+	2	0	ENPP7	75326364	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.075000	0.30716	1.609000	0.50190	0.462000	0.41574	GCT		0.597	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		18	542	1	0	5.03518e-11	1	5.3609e-11	18	542					A	77711769	C	A	77711769	3	1	79	1	0	0	0	0	1	0	0	0	5153	797	28	3	1319	3	ENPP7	17	77711769	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	719	77711769	3483441	17799	28116											
CBX2	84733	broad.mit.edu	37	chr17	77757883	77757883	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcaggcctggcagctcTgaaggcccacgccaaggagg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77757883T>G	ENST00000310942.4	+	5	745	c.641T>G	c.(640-642)cTg>cGg	p.L214R		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	214					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGGCAGCTCTGAAGGCCCAC	0.706																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(640-642)cTg>cGg		chromobox homolog 2							15	20	18					17																	77757883		2160	4263	6423	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77757883T>G	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"Pc class homolog (Drosophila)"	602770	"chromobox homolog 2 (Drosophila Pc class)", "cell division cycle associated 6"	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.641T>G	17.37:g.77757883T>G	ENSP00000308750:p.Leu214Arg						p.L214R	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	745	+			214					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.641T>G	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345067	0.61073	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	.	1.293620	0.04930	N	0.456680	T	0.65196	0.2668	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.52631	-0.8550	9	0.08837	T	0.75	-1.1594	15.206	0.73180	0.0:0.0:0.0:1.0	.	214	Q14781	CBX2_HUMAN	R	214	.	ENSP00000308750:L214R	L	+	2	0	CBX2	75372478	1.000000	0.71417	0.990000	0.47175	0.897000	0.52465	2.464000	0.45067	2.083000	0.62718	0.533000	0.62120	CTG		0.706	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		56	208	0	0	0	1	0	56	208					G	77757883	T	G	77757883	3	3	79	1	0	0	0	0	1	0	0	0	2725	1580	55	4	1007	4	CBX2	17	77757883	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46114	77757883	3437327	17800	28117											
CCDC40	55036	broad.mit.edu	37	chr17	78024044	78024044	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcccgcgctctctacaCcaagacctgcgcagccgcca	10	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78024044C>A	ENST00000397545.4	+	7	1148	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N|CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	374					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)			GCTCTCTACACCAAGACCTGC	0.657																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1120-1122)aCc>aAc		coiled-coil domain containing 40							9	13	12					17																	78024044		2085	4205	6290	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78024044C>A	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.1121C>A	17.37:g.78024044C>A	ENSP00000380679:p.Thr374Asn					CCDC40_ENST00000269318.5_Missense_Mutation_p.T374N|CCDC40_ENST00000374876.4_Missense_Mutation_p.T374N|CCDC40_ENST00000374877.3_Missense_Mutation_p.T374N	p.T374N	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		7	1148	+	all_neural(118;0.167)		374					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1121C>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	8.144	0.785905	0.16189	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84944	0.94;-1.92;0.93;0.94	4.7	-1.27	0.09347	.	.	.	.	.	T	0.68632	0.3022	N	0.17474	0.49	0.09310	N	1	B;B;B	0.16603	0.018;0.003;0.001	B;B;B	0.16289	0.015;0.001;0.002	T	0.51849	-0.8653	9	0.11485	T	0.65	-6.5075	8.3251	0.32151	0.6184:0.2918:0.0:0.0898	.	374;374;157	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	N	374	ENSP00000364011:T374N;ENSP00000269318:T374N;ENSP00000364010:T374N;ENSP00000380679:T374N	ENSP00000269318:T374N	T	+	2	0	CCDC40	75638639	0.001000	0.12720	0.000000	0.03702	0.025000	0.11179	0.728000	0.26013	0.034000	0.15491	0.655000	0.94253	ACC		0.657	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		16	59	1	0	3.52763e-06	1	3.62938e-06	16	59					A	78024044	C	A	78024044	3	1	79	1	0	0	0	0	1	0	0	0	2819	507	18	3	1147	3	CCDC40	17	78024044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266161	78024044	3171166	17801	28118											
CCDC40	55036	broad.mit.edu	37	chr17	78032362	78032362	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaacatcgaccaggAcatgcgtgacgacatccgcg	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032362A>G	ENST00000397545.4	+	8	1256	c.1229A>G	c.(1228-1230)gAc>gGc	p.D410G	CCDC40_ENST00000374877.3_Missense_Mutation_p.D410G|CCDC40_ENST00000269318.5_Missense_Mutation_p.D410G|CCDC40_ENST00000374876.4_Missense_Mutation_p.D410G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	410					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)			ATCGACCAGGACATGCGTGAC	0.557																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1228-1230)gAc>gGc		coiled-coil domain containing 40							65	69	68					17																	78032362		2115	4235	6350	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032362A>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1229A>G	17.37:g.78032362A>G	ENSP00000380679:p.Asp410Gly					CCDC40_ENST00000269318.5_Missense_Mutation_p.D410G|CCDC40_ENST00000374876.4_Missense_Mutation_p.D410G|CCDC40_ENST00000374877.3_Missense_Mutation_p.D410G	p.D410G	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1256	+	all_neural(118;0.167)		410					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1229A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585639	0.46110	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.85339	0.66;-1.97;0.41;0.68	4.41	4.41	0.53225	.	.	.	.	.	D	0.91918	0.7441	M	0.80616	2.505	0.43890	D	0.996517	D;D;D	0.89917	1.0;0.993;0.989	D;P;P	0.77004	0.989;0.725;0.766	D	0.93076	0.6487	9	0.87932	D	0	-42.6986	13.9156	0.63895	1.0:0.0:0.0:0.0	.	410;410;193	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	G	410	ENSP00000364011:D410G;ENSP00000269318:D410G;ENSP00000364010:D410G;ENSP00000380679:D410G	ENSP00000269318:D410G	D	+	2	0	CCDC40	75646957	1.000000	0.71417	0.860000	0.33809	0.009000	0.06853	6.411000	0.73298	1.733000	0.51620	0.260000	0.18958	GAC		0.557	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		9	248	0	0	0	1	0	9	248					G	78032362	A	G	78032362	3	3	79	1	0	0	0	0	1	0	0	0	2819	275	10	4	1259	4	CCDC40	17	78032362	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8318	78032362	3162848	17802	28119											
CCDC40	55036	broad.mit.edu	37	chr17	78032408	78032408	+	Silent	SNP	C	C	T													acacaagtggtaaagaaggcCgagacggagaggatccgggc					rs145013523	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032408C>T	ENST00000397545.4	+	8	1302	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	CCDC40_ENST00000374877.3_Silent_p.A425A|CCDC40_ENST00000269318.5_Silent_p.A425A|CCDC40_ENST00000374876.4_Silent_p.A425A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	425					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)			TAAAGAAGGCCGAGACGGAGA	0.498													C|||	13	0.00259585	0.0098	0.0	5008	,	,		21412	0.0		0.0	False		,,,				2504	0.0					ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1273-1275)gcC>gcT		coiled-coil domain containing 40		C		16,4142		0,16,2063	64	69	67		1275	-9.4	0	17	dbSNP_134	67	2,8412		0,2,4205	no	coding-synonymous	CCDC40	NM_017950.3		0,18,6268	TT,TC,CC		0.0238,0.3848,0.1432		425/1143	78032408	18,12554	2079	4207	6286	SO:0001819	synonymous_variant	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032408C>T	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.1275C>T	17.37:g.78032408C>T						CCDC40_ENST00000269318.5_Silent_p.A425A|CCDC40_ENST00000374876.4_Silent_p.A425A|CCDC40_ENST00000374877.3_Silent_p.A425A	p.A425A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1302	+	all_neural(118;0.167)		425					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	c.1275C>T	CCDS42395.1																																																																																				0.498	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		31	199	0	0	0	1	0	31	199					T	78032408	C	T	78032408	2	4	79	1	0	0	0	0	0	0	0	1	2819	639	23	1		1	CCDC40	17	78032408	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46	78032408	3162802	17803	28120	179	2									
CCDC40	55036	broad.mit.edu	37	chr17	78032413	78032413	+	Missense_Mutation	SNP	C	C	T													agtggtaaagaaggccgagaCggagaggatccgggcagaaa					rs370720427		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032413C>T	ENST00000397545.4	+	8	1307	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M|CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M	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)			AAGGCCGAGACGGAGAGGATC	0.502																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1279-1281)aCg>aTg		coiled-coil domain containing 40		C	MET/THR	0,4146		0,0,2073	63	68	66		1280	-7.3	0	17		66	2,8406		0,2,4202	no	missense	CCDC40	NM_017950.3	81	0,2,6275	TT,TC,CC		0.0238,0.0,0.0159	benign	427/1143	78032413	2,12552	2073	4204	6277	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78032413C>T	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.1280C>T	17.37:g.78032413C>T	ENSP00000380679:p.Thr427Met					CCDC40_ENST00000269318.5_Missense_Mutation_p.T427M|CCDC40_ENST00000374876.4_Missense_Mutation_p.T427M|CCDC40_ENST00000374877.3_Missense_Mutation_p.T427M	p.T427M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		8	1307	+	all_neural(118;0.167)		427					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1280C>T	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	2.861	-0.236089	0.05944	0.0	2.38E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.48201	0.85;1.95;0.82;0.85	4.97	-7.27	0.01461	.	.	.	.	.	T	0.24812	0.0602	N	0.12182	0.205	0.09310	N	1	B;B;B	0.30584	0.109;0.089;0.286	B;B;B	0.18263	0.016;0.006;0.021	T	0.05257	-1.0896	9	0.31617	T	0.26	-6.0308	16.0752	0.80965	0.0:0.3129:0.0:0.6871	.	427;427;210	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	M	427	ENSP00000364011:T427M;ENSP00000269318:T427M;ENSP00000364010:T427M;ENSP00000380679:T427M	ENSP00000269318:T427M	T	+	2	0	CCDC40	75647008	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.337000	0.02657	-1.470000	0.01888	-0.253000	0.11424	ACG		0.502	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		43	184	0	0	0	1	0	43	184					T	78032413	C	T	78032413	3	4	79	1	0	0	0	0	1	0	0	0	2819	536	19	1	1310	1	CCDC40	17	78032413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	78032413	3162797	17804	28121	179	2									
CCDC40	55036	broad.mit.edu	37	chr17	78055849	78055849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgcagaaggagaagAccaacatggtaggcccctgc	14	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78055849A>G	ENST00000397545.4	+	12	2008	c.1981A>G	c.(1981-1983)Acc>Gcc	p.T661A	CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	661					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)			GAAGGAGAAGACCAACATGGT	0.622																																						ENST00000397545.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38						c.(1981-1983)Acc>Gcc		coiled-coil domain containing 40							34	37	36					17																	78055849		2169	4278	6447	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78055849A>G	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1981A>G	17.37:g.78055849A>G	ENSP00000380679:p.Thr661Ala					CCDC40_ENST00000374877.3_Missense_Mutation_p.T661A	p.T661A	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		12	2008	+	all_neural(118;0.167)		661					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.1981A>G	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	A	9.233	1.036266	0.19669	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46819	0.86;0.91	4.86	4.86	0.63082	.	.	.	.	.	T	0.44582	0.1300	M	0.69823	2.125	0.32611	N	0.524658	B;B	0.16396	0.017;0.002	B;B	0.14578	0.011;0.009	T	0.51060	-0.8753	9	0.15499	T	0.54	-41.126	10.5946	0.45329	0.8386:0.1614:0.0:0.0	.	661;444	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	A	661	ENSP00000364011:T661A;ENSP00000380679:T661A	ENSP00000364011:T661A	T	+	1	0	CCDC40	75670444	0.907000	0.30839	1.000000	0.80357	0.977000	0.68977	1.387000	0.34430	1.794000	0.52575	0.533000	0.62120	ACC		0.622	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		29	156	0	0	0	1	0	29	156					G	78055849	A	G	78055849	3	3	79	1	0	0	0	0	1	0	0	0	2819	275	10	4	2027	4	CCDC40	17	78055849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23436	78055849	3139361	17805	28122											
GAA	2548	broad.mit.edu	37	chr17	78086504	78086504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggagcagctcgcctcctccGtgccaggtgagctcctacca	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78086504G>A	ENST00000302262.3	+	13	2101	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	GAA_ENST00000390015.3_Missense_Mutation_p.V628M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	628					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CGCCTCCTCCGTGCCAGGTGA	0.687																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1882-1884)Gtg>Atg		glucosidase, alpha; acid	Acarbose(DB00284)						12	13	13					17																	78086504		2195	4283	6478	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78086504G>A		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1882G>A	17.37:g.78086504G>A	ENSP00000305692:p.Val628Met					GAA_ENST00000390015.3_Missense_Mutation_p.V628M	p.V628M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		13	2101	+	all_neural(118;0.117)		628					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.1882G>A	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733387	0.48939	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.91996	-2.95;-2.95	4.97	4.97	0.65823	Glycoside hydrolase, superfamily (1);	0.121779	0.56097	D	0.000037	D	0.94518	0.8235	M	0.66506	2.035	0.33566	D	0.597962	D	0.69078	0.997	D	0.67548	0.952	D	0.96600	0.9444	10	0.87932	D	0	-29.4845	11.3082	0.49347	0.0902:0.0:0.9098:0.0	.	628	P10253	LYAG_HUMAN	M	628	ENSP00000305692:V628M;ENSP00000374665:V628M	ENSP00000305692:V628M	V	+	1	0	GAA	75701099	0.989000	0.36119	0.931000	0.37212	0.043000	0.13939	2.450000	0.44943	2.270000	0.75569	0.561000	0.74099	GTG		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			4	82	0	0	0	1	0	4	82					A	78086504	G	A	78086504	3	1	79	1	0	0	0	0	1	0	0	0	6174	1145	40	1	1928	1	GAA	17	78086504	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30655	78086504	3108706	17806	28123											
EIF4A3	9775	broad.mit.edu	37	chr17	78111992	78111992	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagtgatggtcagtgtgtcGtagaggtcacacagagtgtc	15	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78111992G>A	ENST00000269349.3	-	8	1037	c.816C>T	c.(814-816)taC>taT	p.Y272Y		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	272	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCAGTGTGTCGTAGAGGTCAC	0.478																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(814-816)taC>taT		eukaryotic translation initiation factor 4A3							221	191	201					17																	78111992		2203	4300	6503	SO:0001819	synonymous_variant	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78111992G>A	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.816C>T	17.37:g.78111992G>A							p.Y272Y	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		8	1037	-	all_neural(118;0.117)		272			Helicase C-terminal.		Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	c.816C>T	CCDS11767.1																																																																																				0.478	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		118	461	0	0	0	1	0	118	461					A	78111992	G	A	78111992	2	1	79	1	0	0	0	0	0	0	0	1	5044	1140	40	1		1	EIF4A3	17	78111992	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25488	78111992	3083218	17807	28124											
EIF4A3	9775	broad.mit.edu	37	chr17	78120716	78120716	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctctttgagcagccgCtttcgcgccgagcccgaggt	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78120716C>T	ENST00000269349.3	-	1	266	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	15					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)			TGAGCAGCCGCTTTCGCGCCG	0.652																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(43-45)aaG>aaA		eukaryotic translation initiation factor 4A3							35	30	32					17																	78120716		2203	4295	6498	SO:0001819	synonymous_variant	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78120716C>T	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.45G>A	17.37:g.78120716C>T							p.K15K	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		1	266	-	all_neural(118;0.117)		15					Q15033|Q6IBQ2|Q96A18	Silent	SNP	ENST00000269349.3	37	c.45G>A	CCDS11767.1																																																																																				0.652	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		67	207	0	0	0	1	0	67	207					T	78120716	C	T	78120716	2	4	79	1	0	0	0	0	0	0	0	1	5044	796	28	2		2	EIF4A3	17	78120716	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8724	78120716	3074494	17808	28125											
CARD14	79092	broad.mit.edu	37	chr17	78165181	78165181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcctggtggagaaggaCtccctccgcaggcaggtgtt	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78165181C>T	ENST00000573882.1	+	10	1685	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	CARD14_ENST00000392434.2_Silent_p.D146D|CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	383					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGAGAAGGACTCCCTCCGCA	0.652																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1147-1149)gaC>gaT		caspase recruitment domain family, member 14							74	67	69					17																	78165181		2203	4300	6503	SO:0001819	synonymous_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78165181C>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1149C>T	17.37:g.78165181C>T						CARD14_ENST00000344227.2_Silent_p.D383D|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Silent_p.D383D|CARD14_ENST00000392434.2_Silent_p.D146D	p.D383D			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		10	1685	+	all_neural(118;0.0952)		383					B8QQJ3|Q9BVB5	Silent	SNP	ENST00000573882.1	37	c.1149C>T	CCDS11768.1																																																																																				0.652	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			93	395	0	0	0	1	0	93	395					T	78165181	C	T	78165181	2	4	79	1	0	0	0	0	0	0	0	1	2653	564	20	2		2	CARD14	17	78165181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44465	78165181	3030029	17809	28126											
SGSH	6448	broad.mit.edu	37	chr17	78184610	78184610	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgtgcacgaggcggaAgtgccggtgctgcacggagc	19	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78184610A>C	ENST00000326317.6	-	8	1236	c.1150T>G	c.(1150-1152)Ttc>Gtc	p.F384V	SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	384					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACGAGGCGGAAGTGCCGGTGC	0.637																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1150-1152)Ttc>Gtc		N-sulfoglucosamine sulfohydrolase							193	169	177					17																	78184610		2203	4300	6503	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184610A>C	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1150T>G	17.37:g.78184610A>C	ENSP00000314606:p.Phe384Val					SGSH_ENST00000534910.1_Missense_Mutation_p.F181V	p.F384V	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1236	-	all_neural(118;0.0952)		384					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.1150T>G	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656211	0.29425	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96365	-3.99;-3.99	4.45	2.23	0.28157	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.133727	0.52532	D	0.000077	D	0.95459	0.8525	M	0.72479	2.2	0.37862	D	0.929755	B	0.33964	0.434	B	0.42959	0.403	D	0.94190	0.7440	10	0.72032	D	0.01	-28.2188	7.8443	0.29417	0.823:0.0:0.177:0.0	.	384	P51688	SPHM_HUMAN	V	384;181	ENSP00000314606:F384V;ENSP00000437778:F181V	ENSP00000314606:F384V	F	-	1	0	SGSH	75799205	0.995000	0.38212	0.768000	0.31515	0.149000	0.21700	3.137000	0.50562	0.573000	0.29400	0.459000	0.35465	TTC		0.637	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		127	621	0	0	0	1	0	127	621					C	78184610	A	C	78184610	3	2	79	1	0	0	0	0	1	0	0	0	14271	72	3	4	362	4	SGSH	17	78184610	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	19429	78184610	3010600	17810	28127											
SLC26A11	6448	broad.mit.edu	37	chr17	78197116	78197116	+	5'Flank	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctctgctgctgccgtcaccAtcggctttggacagatcaag	10	14	3	1	rs144577972	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78197116A>C	ENST00000326317.6	-	0	0				SLC26A11_ENST00000411502.3_Missense_Mutation_p.I165L|SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000361193.3_Missense_Mutation_p.I165L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.I165L|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Missense_Mutation_p.I165L|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCCGTCACCATCGGCTTTGG	0.622																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(493-495)Atc>Ctc		solute carrier family 26 (anion exchanger), member 11							92	64	73					17																	78197116		2203	4300	6503	SO:0001631	upstream_gene_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78197116A>C	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78197116A>C	Exception_encountered					SLC26A11_ENST00000411502.3_Missense_Mutation_p.I165L|SLC26A11_ENST00000546047.2_Missense_Mutation_p.I165L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.I165L	p.I165L	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	773	+	all_neural(118;0.0538)		165					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.493A>C	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200068	0.79015	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.95307	-3.67;-3.67;-3.67	4.03	4.03	0.46877	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	H	0.97158	3.95	0.58432	D	0.999997	D	0.69078	0.997	D	0.66351	0.943	D	0.98638	1.0674	10	0.87932	D	0	-16.2882	12.6881	0.56960	1.0:0.0:0.0:0.0	.	165	Q86WA9	S2611_HUMAN	L	165	ENSP00000403998:I165L;ENSP00000440724:I165L;ENSP00000355384:I165L	ENSP00000355384:I165L	I	+	1	0	SLC26A11	75811711	1.000000	0.71417	0.496000	0.27539	0.622000	0.37654	9.167000	0.94773	1.476000	0.48215	0.397000	0.26171	ATC		0.622	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		39	175	0	0	0	1	0	39	175					C	78197116	A	C	78197116	1	2	79	0	1	0	0	0	0	0	0	0	14566	217	8	4		4	SLC26A11	17	78197116	5'Flank	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12506	78197116	2998094	17811	28128											
SLC26A11	284129	broad.mit.edu	37	chr17	78215619	78215619	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaccaggagctgctggccatCggtaagaccccagccgcggg	14	14	0	1	rs367934688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	ENST00000361193.3	+	10	1315	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	SLC26A11_ENST00000411502.3_Splice_Site_p.I345I|SLC26A11_ENST00000546047.2_Splice_Site_p.I345I|SLC26A11_ENST00000572725.1_Splice_Site_p.I345I	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCTGGCCATCGGTAAGACCC	0.552																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.e10+1		solute carrier family 26 (anion exchanger), member 11		C	,,,	1,4405	2.1+/-5.4	0,1,2202	85	89	87		1035,1035,1035,1035	-7.6	0.3	17		87	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	SLC26A11	NM_001166347.1,NM_001166348.1,NM_001166349.1,NM_173626.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	345/607,345/607,345/607,345/607	78215619	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78215619C>T		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"Solute carriers"	14471	protein-coding gene	gene with protein product		610117	"solute carrier family 26, member 11"				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1036+1C>T	17.37:g.78215619C>T						SLC26A11_ENST00000411502.3_Splice_Site_p.I345_splice|SLC26A11_ENST00000546047.2_Splice_Site_p.I345_splice|SLC26A11_ENST00000572725.1_Splice_Site_p.I345_splice	p.I345_splice	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		10	1315	+	all_neural(118;0.0538)		345						Splice_Site	SNP	ENST00000361193.3	37	c.1036_splice	CCDS11771.2																																																																																				0.552	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1		Silent	112	479	0	0	0	1	0	112	479					T	78215619	C	T	78215619	5	4	79	1	0	0	0	0	0	0	1	0	14566	898	31	1	1065	1	SLC26A11	17	78215619	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18503	78215619	2979591	17812	28129											
RNF213	57674	broad.mit.edu	37	chr17	78319448	78319448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttagcgacctgcggcGtggtggtaccaatgctgaca	12	11	0	1	rs148213205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78319448G>A	ENST00000582970.1	+	29	7456	c.7313G>A	c.(7312-7314)cGt>cAt	p.R2438H	RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2438					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)			GACCTGCGGCGTGGTGGTACC	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20492	0.0		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				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						c.(7312-7314)cGt>cAt		ring finger protein 213		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	92	88	90		7460	4.5	0.1	17	dbSNP_134	90	0,8600		0,0,4300	no	missense	RNF213	NM_020914.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	2487/5257	78319448	2,13004	2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319448G>A	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.7313G>A	17.37:g.78319448G>A	ENSP00000464087:p.Arg2438His					RNF213_ENST00000508628.2_Missense_Mutation_p.R2487H|RNF213_ENST00000336301.6_Missense_Mutation_p.R511H	p.R2438H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7456	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7313G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621789	0.14193	4.54E-4	0.0	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.42513	0.97	5.42	4.46	0.54185	ATPase, AAA+ type, core (1);	0.199637	0.37053	N	0.002275	T	0.56601	0.1996	M	0.77103	2.36	0.23376	N	0.997806	D	0.64830	0.994	P	0.55260	0.772	T	0.54840	-0.8233	10	0.66056	D	0.02	.	11.4884	0.50367	0.1441:0.0:0.8559:0.0	.	511	Q63HN8	RN213_HUMAN	H	2438;2487;511	ENSP00000338218:R511H	ENSP00000338218:R511H	R	+	2	0	RNF213	75934043	1.000000	0.71417	0.080000	0.20451	0.044000	0.14063	3.977000	0.56874	1.524000	0.49035	0.655000	0.94253	CGT		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		9	488	0	0	0	1	0	9	488					A	78319448	G	A	78319448	3	1	79	1	0	0	0	0	1	0	0	0	13527	1145	40	1	7742	1	RNF213	17	78319448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103829	78319448	2875762	17813	28130											
RNF213	57674	broad.mit.edu	37	chr17	78335544	78335544	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctctgcaggactgcccaaGaagttcgtggacatctttca	9	12	3	1	rs146910347		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78335544G>T	ENST00000582970.1	+	39	11354	c.11211G>T	c.(11209-11211)aaG>aaT	p.K3737N	RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3737					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)			GACTGCCCAAGAAGTTCGTGG	0.577																																						ENST00000582970.1																			0				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						c.(11209-11211)aaG>aaT		ring finger protein 213							61	59	60					17																	78335544		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78335544G>T	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.11211G>T	17.37:g.78335544G>T	ENSP00000464087:p.Lys3737Asn					CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.K3786N|RNF213_ENST00000336301.6_Missense_Mutation_p.K1810N	p.K3737N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		39	11354	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.11211G>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288165	0.23478	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23552	1.9	5.68	-0.755	0.11061	.	1.121610	0.06565	N	0.747374	T	0.20536	0.0494	L	0.54323	1.7	0.20196	N	0.999921	B;P	0.35656	0.418;0.514	B;B	0.29716	0.083;0.106	T	0.26360	-1.0105	10	0.45353	T	0.12	.	4.8917	0.13730	0.2001:0.1043:0.5889:0.1067	.	3786;1810	C9JCP4;Q63HN8	.;RN213_HUMAN	N	3737;3786;1810	ENSP00000338218:K1810N	ENSP00000338218:K1810N	K	+	3	2	RNF213	75950139	0.950000	0.32346	0.020000	0.16555	0.005000	0.04900	1.469000	0.35343	0.026000	0.15269	-0.140000	0.14226	AAG		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		53	286	1	0	7.47603e-22	1	8.43918e-22	53	286					T	78335544	G	T	78335544	3	4	79	1	0	0	0	0	1	0	0	0	13527	933	33	3	11680	3	RNF213	17	78335544	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16096	78335544	2859666	17814	28131											
RNF213	57674	broad.mit.edu	37	chr17	78337097	78337097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcccgttggaaccatgagCtggctggatgtgagatggta	15	7	0	2	rs528998140		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78337097C>T	ENST00000582970.1	+	40	11694	c.11551C>T	c.(11551-11553)Ctg>Ttg	p.L3851L	RNF213_ENST00000508628.2_Silent_p.L3900L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.L1924L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3851					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)			GAACCATGAGCTGGCTGGATG	0.567																																						ENST00000582970.1																			0				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						c.(11551-11553)Ctg>Ttg		ring finger protein 213							87	76	80					17																	78337097		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78337097C>T	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.11551C>T	17.37:g.78337097C>T						CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3900L|RNF213_ENST00000336301.6_Silent_p.L1924L	p.L3851L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		40	11694	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.11551C>T	CCDS58606.1																																																																																				0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		19	382	0	0	0	1	0	19	382					T	78337097	C	T	78337097	2	4	79	1	0	0	0	0	0	0	0	1	13527	796	28	2		2	RNF213	17	78337097	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1553	78337097	2858113	17815	28132											
RNF213	57674	broad.mit.edu	37	chr17	78346393	78346393	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctagaagaggaaggtcgtTtccttaaggcatattctcca	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78346393T>G	ENST00000582970.1	+	48	12753	c.12610T>G	c.(12610-12612)Ttc>Gtc	p.F4204V	RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4204					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)			GGAAGGTCGTTTCCTTAAGGC	0.517																																						ENST00000582970.1																			0				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						c.(12610-12612)Ttc>Gtc		ring finger protein 213							42	38	39					17																	78346393		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78346393T>G	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.12610T>G	17.37:g.78346393T>G	ENSP00000464087:p.Phe4204Val					CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.F4253V|RNF213_ENST00000336301.6_Missense_Mutation_p.F2277V	p.F4204V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		48	12753	+	all_neural(118;0.0538)		238					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12610T>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.656634	0.47467	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.24723	1.84	5.29	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	M	0.81239	2.535	0.35309	D	0.783728	D;D	0.89917	0.999;1.0	D;D	0.85130	0.927;0.997	T	0.62817	-0.6774	10	0.46703	T	0.11	.	11.0367	0.47804	0.0:0.0737:0.0:0.9263	.	4253;2277	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4204;4253;2277	ENSP00000338218:F2277V	ENSP00000338218:F2277V	F	+	1	0	RNF213	75960988	1.000000	0.71417	0.644000	0.29465	0.007000	0.05969	5.229000	0.65316	0.831000	0.34780	0.533000	0.62120	TTC		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		16	127	0	0	0	1	0	16	127					G	78346393	T	G	78346393	3	3	79	1	0	0	0	0	1	0	0	0	13527	1841	64	4	13115	4	RNF213	17	78346393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9296	78346393	2848817	17816	28133											
RNF213	57674	broad.mit.edu	37	chr17	78348322	78348322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtacggcgatgaatacaaggCtctccgtgatgctgtggcca	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78348322C>T	ENST00000582970.1	+	50	13150	c.13007C>T	c.(13006-13008)gCt>gTt	p.A4336V	RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4336					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)			GAATACAAGGCTCTCCGTGAT	0.567																																						ENST00000582970.1																			0				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						c.(13006-13008)gCt>gTt		ring finger protein 213							138	109	119					17																	78348322		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78348322C>T	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.13007C>T	17.37:g.78348322C>T	ENSP00000464087:p.Ala4336Val					CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.A4385V|RNF213_ENST00000336301.6_Missense_Mutation_p.A2409V	p.A4336V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		50	13150	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13007C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116196	0.37339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23950	1.88	4.79	2.79	0.32731	.	0.191148	0.45867	D	0.000332	T	0.21962	0.0529	L	0.57130	1.785	0.24566	N	0.993947	P;B	0.35793	0.521;0.007	B;B	0.30105	0.111;0.006	T	0.10636	-1.0621	10	0.49607	T	0.09	.	9.6309	0.39778	0.0:0.8364:0.0:0.1636	.	4385;2409	C9JCP4;Q63HN8	.;RN213_HUMAN	V	4336;4385;2409	ENSP00000338218:A2409V	ENSP00000338218:A2409V	A	+	2	0	RNF213	75962917	0.094000	0.21725	0.281000	0.24762	0.615000	0.37417	0.431000	0.21444	0.549000	0.28973	0.561000	0.74099	GCT		0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		12	336	0	0	0	1	0	12	336					T	78348322	C	T	78348322	3	4	79	1	0	0	0	0	1	0	0	0	13527	797	28	2	13520	2	RNF213	17	78348322	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1929	78348322	2846888	17817	28134											
RNF213	57674	broad.mit.edu	37	chr17	78363064	78363064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctgtcgtagaagtcaCtctggggtttctgagcacag	13	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78363064C>T	ENST00000582970.1	+	65	15235	c.15092C>T	c.(15091-15093)aCt>aTt	p.T5031I	RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5031					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)			GTAGAAGTCACTCTGGGGTTT	0.517																																						ENST00000582970.1																			0				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						c.(15091-15093)aCt>aTt		ring finger protein 213							129	114	119					17																	78363064		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78363064C>T	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.15092C>T	17.37:g.78363064C>T	ENSP00000464087:p.Thr5031Ile					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.T5080I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.T3104I	p.T5031I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		65	15235	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.15092C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	8.805	0.933888	0.18206	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.22539	1.95	5.39	3.41	0.39046	.	0.444633	0.22383	N	0.060799	T	0.22859	0.0552	M	0.75447	2.3	0.09310	N	1	B;B	0.24533	0.105;0.014	B;B	0.18871	0.023;0.012	T	0.16958	-1.0385	10	0.44086	T	0.13	.	8.0358	0.30491	0.0:0.6954:0.0:0.3046	.	5031;3104	D6RI12;Q63HN8	.;RN213_HUMAN	I	5031;5080;3104;381	ENSP00000338218:T3104I	ENSP00000338218:T3104I	T	+	2	0	RNF213	75977659	0.009000	0.17119	0.050000	0.19076	0.379000	0.30106	2.150000	0.42254	0.660000	0.30964	0.655000	0.94253	ACT		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		44	239	0	0	0	1	0	44	239					T	78363064	C	T	78363064	3	4	79	1	0	0	0	0	1	0	0	0	13527	565	20	2	15665	2	RNF213	17	78363064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14742	78363064	2832146	17818	28135											
FLJ35220	284131	broad.mit.edu	37	chr17	78398856	78398856	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gactcctgcagactcgaggaGactcattccctctgctggga	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78398856G>A	ENST00000518137.1	+	6	569	c.541G>A	c.(541-543)Gac>Aac	p.D181N	ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000520367.1_Missense_Mutation_p.D136N|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000517295.2_Missense_Mutation_p.D98N|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.D136N	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	181					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						GACTCGAGGAGACTCATTCCC	0.537								Direct reversal of damage																														ENST00000518137.1																			0				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						c.(541-543)Gac>Aac	Direct reversal of damage	endonuclease V							51	51	51					17																	78398856		1917	4119	6036	SO:0001583	missense	284131				DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding	g.chr17:78398856G>A		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.541G>A	17.37:g.78398856G>A	ENSP00000429190:p.Asp181Asn					ENDOV_ENST00000520367.1_Missense_Mutation_p.D136N|ENDOV_ENST00000517295.2_Missense_Mutation_p.D98N|ENDOV_ENST00000517795.1_5'UTR|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518907.1_5'UTR|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000520284.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.D136N	p.D181N	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN			6	569	+			181					I3L3S4|Q6P2G2|Q86X99|Q8NAK0	Missense_Mutation	SNP	ENST00000518137.1	37	c.541G>A	CCDS54172.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089188	0.36855	.	.	ENSG00000173818	ENST00000518137;ENST00000520367;ENST00000323854;ENST00000517295	T;T;T	0.16597	2.33;2.33;2.33	4.2	4.2	0.49525	.	0.176975	0.47852	D	0.000208	T	0.22475	0.0542	M	0.67569	2.06	0.41759	D	0.989707	B;B;B	0.28082	0.007;0.019;0.2	B;B;B	0.31290	0.084;0.034;0.127	T	0.05599	-1.0875	10	0.41790	T	0.15	-13.8738	14.4854	0.67614	0.0:0.0:1.0:0.0	.	181;136;136	Q8N8Q3;Q8N8Q3-2;Q8N8Q3-3	ENDOV_HUMAN;.;.	N	181;136;136;156	ENSP00000429190:D181N;ENSP00000431036:D136N;ENSP00000317810:D136N	ENSP00000317810:D136N	D	+	1	0	ENDOV	76013451	1.000000	0.71417	0.455000	0.27031	0.064000	0.16182	7.642000	0.83385	2.149000	0.67028	0.457000	0.33378	GAC		0.537	ENDOV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379487.1	NM_173627		18	76	0	0	0	1	0	18	76					A	78398856	G	A	78398856	3	1	79	1	0	0	0	0	1	0	0	0	5952	942	33	2	563	2	FLJ35220	17	78398856	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35792	78398856	2796354	17819	28136											
RPTOR	57521	broad.mit.edu	37	chr17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcacgtccttacgtcGcaacgccaaggaggagcgag	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	139					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						TCCTTACGTCGCAACGCCAAG	0.557																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(415-417)cGc>cAc		regulatory associated protein of MTOR, complex 1							70	60	63					17																	78681708		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78681708G>A		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.416G>A	17.37:g.78681708G>A	ENSP00000307272:p.Arg139His					RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H	p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			4	778	+			139					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.416G>A	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570396	0.86542	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.53857	0.61;0.6	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.77896	0.4199	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.97	T	0.81344	-0.0975	10	0.54805	T	0.06	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	139;139	F5H7J5;Q8N122	.;RPTOR_HUMAN	H	139	ENSP00000307272:R139H;ENSP00000442479:R139H	ENSP00000307272:R139H	R	+	2	0	RPTOR	76296303	1.000000	0.71417	0.151000	0.22473	0.528000	0.34623	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	CGC		0.557	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		22	116	0	0	0	1	0	22	116					A	78681708	G	A	78681708	3	1	79	1	0	0	0	0	1	0	0	0	13715	1087	38	1	430	1	RPTOR	17	78681708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	282852	78681708	2513502	17820	28137											
RPTOR	57521	broad.mit.edu	37	chr17	78796055	78796055	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgggtgaactgaactggatCttcacagccatcacagacac	9	12	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78796055C>A	ENST00000306801.3	+	8	1307	c.945C>A	c.(943-945)atC>atA	p.I315I	RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I315I|RPTOR_ENST00000570891.1_Silent_p.I315I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	315					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						TGAACTGGATCTTCACAGCCA	0.637																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(943-945)atC>atA		regulatory associated protein of MTOR, complex 1							207	203	204					17																	78796055		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78796055C>A		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.945C>A	17.37:g.78796055C>A						RPTOR_ENST00000537330.1_Silent_p.I130I|RPTOR_ENST00000570891.1_Silent_p.I315I|RPTOR_ENST00000544334.2_Silent_p.I315I|RPTOR_ENST00000575542.1_3'UTR	p.I315I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			8	1307	+			315					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.945C>A	CCDS11773.1																																																																																				0.637	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		272	1396	1	0	1.08273e-52	1	1.34737e-52	272	1396					A	78796055	C	A	78796055	2	1	79	1	0	0	0	0	0	0	0	1	13715	903	32	3		3	RPTOR	17	78796055	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114347	78796055	2399155	17821	28138											
RPTOR	57521	broad.mit.edu	37	chr17	78897351	78897351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgatgtggccaagcagCcggtcagccgagacttgcct	12	14	1	1	rs377442287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78897351C>T	ENST00000306801.3	+	23	3048	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	896					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						GGCCAAGCAGCCGGTCAGCCG	0.652																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(2686-2688)Ccg>Tcg		regulatory associated protein of MTOR, complex 1							38	41	40					17																	78897351		2201	4300	6501	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78897351C>T		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.2686C>T	17.37:g.78897351C>T	ENSP00000307272:p.Pro896Ser					RPTOR_ENST00000544334.2_Missense_Mutation_p.P738S|RPTOR_ENST00000575542.1_3'UTR	p.P896S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			23	3048	+			896					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.2686C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434890	0.62955	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.44881	0.96;0.91	5.02	4.03	0.46877	.	0.066605	0.64402	D	0.000011	T	0.55784	0.1942	L	0.53249	1.67	0.80722	D	1	D;P	0.67145	0.996;0.664	D;B	0.78314	0.991;0.217	T	0.50566	-0.8813	10	0.15952	T	0.53	.	14.3152	0.66446	0.1543:0.8457:0.0:0.0	.	738;896	F5H7J5;Q8N122	.;RPTOR_HUMAN	S	896;738	ENSP00000307272:P896S;ENSP00000442479:P738S	ENSP00000307272:P896S	P	+	1	0	RPTOR	76511946	1.000000	0.71417	0.992000	0.48379	0.780000	0.44128	4.334000	0.59291	1.033000	0.39918	0.655000	0.94253	CCG		0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		37	260	0	0	0	1	0	37	260					T	78897351	C	T	78897351	3	4	79	1	0	0	0	0	1	0	0	0	13715	739	26	2	2776	2	RPTOR	17	78897351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101296	78897351	2297859	17822	28139											
RPTOR	57521	broad.mit.edu	37	chr17	78923309	78923309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacccagagatggtgaccgCgtggcaggggctctcggaca	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78923309C>T	ENST00000306801.3	+	28	3694	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1111					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						ATGGTGACCGCGTGGCAGGGG	0.612																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(3331-3333)gCg>gTg		regulatory associated protein of MTOR, complex 1							176	167	170					17																	78923309		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78923309C>T		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.3332C>T	17.37:g.78923309C>T	ENSP00000307272:p.Ala1111Val					RPTOR_ENST00000544334.2_Missense_Mutation_p.A953V|RPTOR_ENST00000575542.1_3'UTR	p.A1111V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			28	3694	+			1111					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.3332C>T	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157797	0.94686	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.26660	1.72;1.72	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.71184	0.972;0.46	T	0.65751	-0.6092	10	0.56958	D	0.05	.	17.552	0.87879	0.0:1.0:0.0:0.0	.	953;1111	F5H7J5;Q8N122	.;RPTOR_HUMAN	V	1111;953	ENSP00000307272:A1111V;ENSP00000442479:A953V	ENSP00000307272:A1111V	A	+	2	0	RPTOR	76537904	1.000000	0.71417	0.057000	0.19452	0.959000	0.62525	7.353000	0.79414	2.145000	0.66743	0.462000	0.41574	GCG		0.612	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		196	913	0	0	0	1	0	196	913					T	78923309	C	T	78923309	3	4	79	1	0	0	0	0	1	0	0	0	13715	768	27	1	3442	1	RPTOR	17	78923309	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25958	78923309	2271901	17823	28140											
RPTOR	57521	broad.mit.edu	37	chr17	78933943	78933943	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattcccaccgctcactcatCgtggctggcctcggtgacgg	12	15	2	1	rs138030342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78933943C>T	ENST00000306801.3	+	30	3905	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.I1023I|CTD-2561B21.3_ENST00000571591.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1181					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						GCTCACTCATCGTGGCTGGCC	0.622																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(3541-3543)atC>atT		regulatory associated protein of MTOR, complex 1		C	,	0,4406		0,0,2203	130	88	102		3069,3543	-1	1	17	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RPTOR	NM_001163034.1,NM_020761.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1023/1178,1181/1336	78933943	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78933943C>T		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.3543C>T	17.37:g.78933943C>T						RPTOR_ENST00000544334.2_Silent_p.I1023I|RPTOR_ENST00000575542.1_3'UTR	p.I1181I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			30	3905	+			1181					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.3543C>T	CCDS11773.1																																																																																				0.622	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		40	303	0	0	0	1	0	40	303					T	78933943	C	T	78933943	2	4	79	1	0	0	0	0	0	0	0	1	13715	874	31	1		1	RPTOR	17	78933943	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10634	78933943	2261267	17824	28141											
BAIAP2	10458	broad.mit.edu	37	chr17	79059520	79059520	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggagctggactccaggtatCtgagtgtaagtgcaccctgg	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79059520C>A	ENST00000321300.6	+	5	439	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000573894.1_3'UTR	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	116	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCCAGGTATCTGAGTGTAAG	0.597																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(346-348)Ctg>Atg		BAI1-associated protein 2							83	72	76					17																	79059520		2203	4300	6503	SO:0001583	missense	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79059520C>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.346C>A	17.37:g.79059520C>A	ENSP00000316338:p.Leu116Met					BAIAP2_ENST00000435091.3_Missense_Mutation_p.L116M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L116M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L116M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L38M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L116M|BAIAP2_ENST00000575245.1_Missense_Mutation_p.L149M	p.L116M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		5	439	+	all_neural(118;0.101)		116			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	ENST00000321300.6	37	c.346C>A	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125868	0.20959	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.76	4.01	4.01	0.46588	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.64402	D	0.000003	T	0.45034	0.1322	N	0.16862	0.45	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.979;0.974;1.0;1.0;0.979	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.942;0.921;1.0;1.0;0.942	T	0.24512	-1.0158	10	0.11182	T	0.66	-36.3918	15.94	0.79747	0.0:1.0:0.0:0.0	.	38;117;116;116;116;116;116;116	F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;BAIP2_HUMAN;.;.;.;.;.	M	116;116;116;116;38	ENSP00000316338:L116M;ENSP00000401022:L116M;ENSP00000413069:L116M;ENSP00000315685:L116M;ENSP00000376211:L38M	ENSP00000315685:L116M	L	+	1	2	BAIAP2	76674115	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.725000	0.47294	2.066000	0.61787	0.655000	0.94253	CTG		0.597	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			41	228	1	0	9.84934e-19	1	1.0948e-18	41	228					A	79059520	C	A	79059520	3	1	79	1	0	0	0	0	1	0	0	0	1302	912	32	3	364	3	BAIAP2	17	79059520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125577	79059520	2135690	17825	28142											
BAIAP2	10458	broad.mit.edu	37	chr17	79073803	79073803	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctacaagaccgcactgacaGaggagcgcaggcgcttctgc	13	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79073803G>T	ENST00000321300.6	+	7	658	c.565G>T	c.(565-567)Gag>Tag	p.E189*	BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	189	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGCACTGACAGAGGAGCGCAG	0.622																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(565-567)Gag>Tag		BAI1-associated protein 2							87	81	83					17																	79073803		2203	4300	6503	SO:0001587	stop_gained	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79073803G>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.565G>T	17.37:g.79073803G>T	ENSP00000316338:p.Glu189*					BAIAP2_ENST00000435091.3_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575712.1_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000321280.7_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000392411.3_Nonsense_Mutation_p.E111*|BAIAP2_ENST00000428708.2_Nonsense_Mutation_p.E189*|BAIAP2_ENST00000575245.1_Nonsense_Mutation_p.E222*|BAIAP2_ENST00000416299.2_Nonsense_Mutation_p.E52*	p.E189*	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		7	658	+	all_neural(118;0.101)		189			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Nonsense_Mutation	SNP	ENST00000321300.6	37	c.565G>T	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220483	0.79464	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.374	18.6597	0.91468	0.0:0.0:1.0:0.0	.	.	.	.	X	189;189;189;189;111;52	.	ENSP00000315685:E189X	E	+	1	0	BAIAP2	76688398	1.000000	0.71417	0.955000	0.39395	0.411000	0.31082	9.274000	0.95731	2.401000	0.81631	0.491000	0.48974	GAG		0.622	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			15	427	1	0	1.49906e-05	1	1.53515e-05	15	427					T	79073803	G	T	79073803	4	4	79	1	0	0	0	0	0	1	0	0	1302	943	33	3	591	3	BAIAP2	17	79073803	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14283	79073803	2121407	17826	28143											
BAIAP2	10458	broad.mit.edu	37	chr17	79077823	79077823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatccctgtctcctccGcagtctcagagcaagctcag	7	17	3	1	rs148408272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79077823G>A	ENST00000321300.6	+	9	1074	c.981G>A	c.(979-981)ccG>ccA	p.P327P	BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000321280.7_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000416299.2_Silent_p.P190P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	327					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)			TGTCTCCTCCGCAGTCTCAGA	0.617																																						ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(979-981)ccG>ccA		BAI1-associated protein 2							91	95	93					17																	79077823		2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79077823G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.981G>A	17.37:g.79077823G>A						BAIAP2_ENST00000435091.3_Silent_p.P327P|BAIAP2_ENST00000575712.1_Silent_p.P327P|BAIAP2_ENST00000321280.7_Silent_p.P327P|BAIAP2_ENST00000392411.3_Silent_p.P249P|BAIAP2_ENST00000428708.2_Silent_p.P327P|BAIAP2_ENST00000575245.1_Silent_p.P360P|BAIAP2_ENST00000416299.2_Silent_p.P190P	p.P327P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		9	1074	+	all_neural(118;0.101)		327					O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.981G>A	CCDS11775.1																																																																																				0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			83	378	0	0	0	1	0	83	378					A	79077823	G	A	79077823	2	1	79	1	0	0	0	0	0	0	0	1	1302	1074	38	1		1	BAIAP2	17	79077823	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4020	79077823	2117387	17827	28144											
AATK	9625	broad.mit.edu	37	chr17	79094040	79094040	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgtcgtcgaagaaggaCacggccttcttcttgcgttc	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094040C>T	ENST00000326724.4	-	11	3720	c.3696G>A	c.(3694-3696)gtG>gtA	p.V1232V	AATK_ENST00000417379.1_Silent_p.V1129V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1232					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)			CGAAGAAGGACACGGCCTTCT	0.677																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3694-3696)gtG>gtA		apoptosis-associated tyrosine kinase							28	32	31					17																	79094040		2096	4212	6308	SO:0001819	synonymous_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094040C>T	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.3696G>A	17.37:g.79094040C>T						AATK_ENST00000417379.1_Silent_p.V1129V	p.V1232V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3720	-	all_neural(118;0.101)		1232					O75136|Q6ZN31|Q86X28	Silent	SNP	ENST00000326724.4	37	c.3696G>A	CCDS45807.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270195	0.23221	.	.	ENSG00000181409	ENST00000417379	.	.	.	3.98	0.325	0.15903	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40001	-0.9586	4	.	.	.	.	5.1513	0.15011	0.1341:0.5377:0.2393:0.0889	.	.	.	.	Y	1185	.	.	C	-	2	0	AATK	76708635	0.996000	0.38824	0.998000	0.56505	0.881000	0.50899	0.446000	0.21694	0.305000	0.22832	0.313000	0.20887	TGT		0.677	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		23	173	0	0	0	1	0	23	173					T	79094040	C	T	79094040	2	4	79	1	0	0	0	0	0	0	0	1	26	465	17	2		2	AATK	17	79094040	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16217	79094040	2101170	17828	28145											
AATK	9625	broad.mit.edu	37	chr17	79094443	79094443	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggtcagcaggaaaaactggGagcagctggggctgggccca	18	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094443G>T	ENST00000326724.4	-	11	3317	c.3293C>A	c.(3292-3294)tCc>tAc	p.S1098Y	AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1098	Pro-rich.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAAAACTGGGAGCAGCTGGG	0.682																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(3292-3294)tCc>tAc		apoptosis-associated tyrosine kinase							7	8	8					17																	79094443		1810	4027	5837	SO:0001583	missense	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79094443G>T	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.3293C>A	17.37:g.79094443G>T	ENSP00000324196:p.Ser1098Tyr					AATK_ENST00000417379.1_Missense_Mutation_p.S995Y	p.S1098Y	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		11	3317	-	all_neural(118;0.101)		1098			Pro-rich.		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	ENST00000326724.4	37	c.3293C>A	CCDS45807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.06|17.06	3.291234|3.291234	0.59976|0.59976	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724	.|T	.|0.79940	.|-1.32	4.54|4.54	3.56|3.56	0.40772|0.40772	.|.	.|1.012940	.|0.07905	.|N	.|0.973247	T|T	0.71443|0.71443	0.3340|0.3340	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.50528	.|0.936	.|B	.|0.43225	.|0.412	T|T	0.63945|0.63945	-0.6522|-0.6522	5|10	.|0.72032	.|D	.|0.01	.|.	4.491|4.491	0.11813|0.11813	0.0901:0.1521:0.6013:0.1564|0.0901:0.1521:0.6013:0.1564	.|.	.|1098	.|Q6ZMQ8	.|LMTK1_HUMAN	T|Y	1051|1098	.|ENSP00000324196:S1098Y	.|ENSP00000324196:S1098Y	P|S	-|-	1|2	0|0	AATK|AATK	76709038|76709038	0.005000|0.005000	0.15991|0.15991	0.026000|0.026000	0.17262|0.17262	0.563000|0.563000	0.35712|0.35712	0.421000|0.421000	0.21280|0.21280	2.072000|2.072000	0.62099|0.62099	0.297000|0.297000	0.19635|0.19635	CCC|TCC		0.682	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		11	47	1	0	0.000673444	1	0.000681208	11	47					T	79094443	G	T	79094443	3	4	79	1	0	0	0	0	1	0	0	0	26	1174	41	3	847	3	AATK	17	79094443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	403	79094443	2100767	17829	28146											
AZI1	22994	broad.mit.edu	37	chr17	79166137	79166137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttcctggtgcggccgGcctcccacgcctgcctctcc	9	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79166137G>A	ENST00000269392.4	-	21	2859	c.2612C>T	c.(2611-2613)gCc>gTc	p.A871V	AZI1_ENST00000450824.2_Missense_Mutation_p.A868V|AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000575907.1_Missense_Mutation_p.A835V	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		871					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)			GGTGCGGCCGGCCTCCCACGC	0.701																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(2611-2613)gCc>gTc		5-azacytidine induced 1							9	10	10					17																	79166137		2145	4239	6384	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79166137G>A																												ENST00000269392.4:c.2612C>T	17.37:g.79166137G>A	ENSP00000269392:p.Ala871Val					AZI1_ENST00000374782.3_Missense_Mutation_p.A832V|AZI1_ENST00000450824.2_Missense_Mutation_p.A868V|AZI1_ENST00000575907.1_Missense_Mutation_p.A835V	p.A871V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		21	2859	-	all_neural(118;0.0804)|Melanoma(429;0.242)		871					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2612C>T		.	.	.	.	.	.	.	.	.	.	G	14.52	2.559498	0.45590	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.16196	2.36;2.42;2.36	3.17	3.17	0.36434	.	0.186862	0.37012	N	0.002296	T	0.32585	0.0834	L	0.57536	1.79	0.39189	D	0.962925	D;D;D;D	0.76494	0.999;0.999;0.99;0.998	D;D;P;D	0.77557	0.99;0.98;0.844;0.938	T	0.06607	-1.0817	10	0.32370	T	0.25	-16.9678	10.2912	0.43596	0.0:0.0:0.8026:0.1974	.	868;871;832;868	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	V	868;832;871	ENSP00000393583:A868V;ENSP00000363914:A832V;ENSP00000269392:A871V	ENSP00000269392:A871V	A	-	2	0	AZI1	76780732	1.000000	0.71417	0.897000	0.35233	0.597000	0.36814	6.281000	0.72632	1.780000	0.52325	0.313000	0.20887	GCC		0.701	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			9	41	0	0	0	1	0	9	41					A	79166137	G	A	79166137	3	1	79	1	0	0	0	0	1	0	0	0	1241	1203	42	2	663	2	AZI1	17	79166137	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71694	79166137	2029073	17830	28147											
AZI1	22994	broad.mit.edu	37	chr17	79181033	79181033	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaggaagtctgtgggctcCgttggcctgcatccgagaga	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79181033C>T	ENST00000269392.4	-	4	526	c.279G>A	c.(277-279)acG>acA	p.T93T	AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000450824.2_Silent_p.T93T|AZI1_ENST00000575907.1_Silent_p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		93					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)			CTGTGGGCTCCGTTGGCCTGC	0.647																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(277-279)acG>acA		5-azacytidine induced 1							49	47	48					17																	79181033		2203	4300	6503	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79181033C>T																												ENST00000269392.4:c.279G>A	17.37:g.79181033C>T						AZI1_ENST00000450824.2_Silent_p.T93T|AZI1_ENST00000374782.3_Silent_p.T93T|AZI1_ENST00000575907.1_Silent_p.T93T	p.T93T	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		4	526	-	all_neural(118;0.0804)|Melanoma(429;0.242)		93					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.279G>A																																																																																					0.647	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			39	171	0	0	0	1	0	39	171					T	79181033	C	T	79181033	2	4	79	1	0	0	0	0	0	0	0	1	1241	639	23	1		1	AZI1	17	79181033	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14896	79181033	2014177	17831	28148											
SLC38A10	124565	broad.mit.edu	37	chr17	79219815	79219815	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgtccaccctgctcGccatcagagatgacccgcag	9	18	1	2	rs372573156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79219815G>A	ENST00000374759.3	-	16	3284	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	967					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)			CACCCTGCTCGCCATCAGAGA	0.687																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2899-2901)ggC>ggT		solute carrier family 38, member 10		G		0,3992		0,0,1996	23	28	26		2901	-8	0	17		26	1,8319		0,1,4159	no	coding-synonymous	SLC38A10	NM_001037984.1		0,1,6155	AA,AG,GG		0.012,0.0,0.0081		967/1120	79219815	1,12311	1996	4160	6156	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219815G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2901C>T	17.37:g.79219815G>A							p.G967G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3284	-	all_neural(118;0.0804)|Melanoma(429;0.242)		967					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.2901C>T	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		70	264	0	0	0	1	0	70	264					A	79219815	G	A	79219815	2	1	79	1	0	0	0	0	0	0	0	1	14652	1074	38	1		1	SLC38A10	17	79219815	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38782	79219815	1975395	17832	28149											
SLC38A10	124565	broad.mit.edu	37	chr17	79226464	79226464	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcgtggcggtgggcctcGcccacaggcacagcaatccc	14	16	0	0	rs375564146		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79226464G>A	ENST00000374759.3	-	13	1859	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SLC38A10_ENST00000288439.5_Silent_p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	492					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)			GGTGGGCCTCGCCCACAGGCA	0.607																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1474-1476)ggC>ggT		solute carrier family 38, member 10			,	1,4397		0,1,2198	48	40	43		1476,1476	-8.5	0.6	17		43	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	SLC38A10	NM_001037984.1,NM_138570.2	,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,	492/1120,492/781	79226464	1,12989	2199	4296	6495	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226464G>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1476C>T	17.37:g.79226464G>A						SLC38A10_ENST00000288439.5_Silent_p.G492G	p.G492G	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		13	1859	-	all_neural(118;0.0804)|Melanoma(429;0.242)		492					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.1476C>T	CCDS42397.1																																																																																				0.607	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		73	321	0	0	0	1	0	73	321					A	79226464	G	A	79226464	2	1	79	1	0	0	0	0	0	0	0	1	14652	1074	38	1		1	SLC38A10	17	79226464	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6649	79226464	1968746	17833	28150											
SLC38A10	124565	broad.mit.edu	37	chr17	79257209	79257209	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgaacacatccttacCtgaaacccgaacagccgggc	7	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	ENST00000374759.3	-	4	740	c.357G>T	c.(355-357)caG>caT	p.Q119H	SLC38A10_ENST00000288439.5_Splice_Site_p.Q119H|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					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)			ACATCCTTACCTGAAACCCGA	0.602																																						ENST00000374759.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.e4+1		solute carrier family 38, member 10							82	56	65					17																	79257209		2201	4299	6500	SO:0001630	splice_region_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79257209C>A	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.357+1G>T	17.37:g.79257209C>A						SLC38A10_ENST00000288439.5_Splice_Site_p.Q119_splice	p.Q119_splice	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		4	740	-	all_neural(118;0.0804)|Melanoma(429;0.242)		119					Q6ZRC5|Q8NA99|Q96C66	Splice_Site	SNP	ENST00000374759.3	37	c.357_splice	CCDS42397.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773057	0.90108	.	.	ENSG00000157637	ENST00000374759;ENST00000288439;ENST00000539748	T;T	0.10573	3.02;2.86	4.76	4.76	0.60689	.	5.897720	0.00166	N	0.000019	T	0.32912	0.0845	L	0.48642	1.525	0.80722	D	1	P;D	0.56968	0.942;0.978	P;D	0.63703	0.693;0.917	T	0.01613	-1.1312	9	.	.	.	-14.5591	18.1105	0.89534	0.0:1.0:0.0:0.0	.	119;119	Q9HBR0-2;Q9HBR0	.;S38AA_HUMAN	H	119;119;71	ENSP00000363891:Q119H;ENSP00000288439:Q119H	.	Q	-	3	2	SLC38A10	76871804	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.103000	0.77014	2.334000	0.79466	0.561000	0.74099	CAG		0.602	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	Missense_Mutation	18	89	1	0	9.7654e-05	1	9.93505e-05	18	89					A	79257209	C	A	79257209	5	1	79	1	0	0	0	0	0	0	1	0	14652	695	24	3	3332	3	SLC38A10	17	79257209	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30745	79257209	1938001	17834	28151											
BAHCC1	57597	broad.mit.edu	37	chr17	79409669	79409669	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagggaaccatggcccccGaccacgctgcaccctatgga	12	15	0	0	rs544465445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79409669G>A	ENST00000307745.7	+	9	1294	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N																								CATGGCCCCCGACCACGCTGC	0.726													g|||	1	0.000199681	0.0	0.0	5008	,	,		13135	0.0		0.001	False		,,,				2504	0.0					ENST00000307745.7																			0											c.(1294-1296)Gac>Aac									17	23	21					17																	79409669		2014	4159	6173	SO:0001583	missense	0							g.chr17:79409669G>A																												ENST00000307745.7:c.1294G>A	17.37:g.79409669G>A	ENSP00000303486:p.Asp432Asn						p.D432N							9	1294	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.1294G>A		.	.	.	.	.	.	.	.	.	.	g	8.454	0.853720	0.17106	.	.	ENSG00000171282	ENST00000307745	T	0.11821	2.74	4.3	4.3	0.51218	.	.	.	.	.	T	0.09024	0.0223	N	0.24115	0.695	0.09310	N	1	P	0.35551	0.509	B	0.26969	0.075	T	0.18650	-1.0330	9	0.46703	T	0.11	.	11.5894	0.50938	0.0:0.1811:0.8189:0.0	.	432	Q9P281	BAHC1_HUMAN	N	432	ENSP00000303486:D432N	ENSP00000303486:D432N	D	+	1	0	AC110285.1	77024264	0.021000	0.18746	0.015000	0.15790	0.012000	0.07955	1.678000	0.37586	1.962000	0.57031	0.290000	0.19541	GAC		0.726	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				11	83	0	0	0	1	0	11	83					A	79409669	G	A	79409669	3	1	79	1	0	0	0	0	1	0	0	0	1297	1058	37	1	1143	1	BAHCC1	17	79409669	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152460	79409669	1785541	17835	28152											
BAHCC1	57597	broad.mit.edu	37	chr17	79411733	79411733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccagaacctgccccccgGcttccccgcctccgtggctg	10	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79411733G>A	ENST00000307745.7	+	12	2552	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D																								CTGCCCCCCGGCTTCCCCGCC	0.711																																						ENST00000307745.7																			0											c.(2551-2553)gGc>gAc									28	37	34					17																	79411733		2022	4139	6161	SO:0001583	missense	0							g.chr17:79411733G>A																												ENST00000307745.7:c.2552G>A	17.37:g.79411733G>A	ENSP00000303486:p.Gly851Asp						p.G851D							12	2552	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.2552G>A		.	.	.	.	.	.	.	.	.	.	G	16.64	3.179524	0.57800	.	.	ENSG00000171282	ENST00000307745	T	0.53640	0.61	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000073	T	0.67505	0.2900	M	0.75264	2.295	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70450	-0.4868	10	0.56958	D	0.05	.	14.1577	0.65428	0.0:0.1511:0.8488:0.0	.	851;851	Q9P281;F8WBW8	BAHC1_HUMAN;.	D	851	ENSP00000303486:G851D	ENSP00000303486:G851D	G	+	2	0	AC110285.1	77026328	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.649000	0.46656	2.385000	0.81259	0.591000	0.81541	GGC		0.711	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				75	250	0	0	0	1	0	75	250					A	79411733	G	A	79411733	3	1	79	1	0	0	0	0	1	0	0	0	1297	1203	42	2	2413	2	BAHCC1	17	79411733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2064	79411733	1783477	17836	28153											
BAHCC1	57597	broad.mit.edu	37	chr17	79414740	79414740	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcgacagcccaccggaccCtcagcccccagcggcctctg	10	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79414740C>A	ENST00000307745.7	+	15	3842	c.3842C>A	c.(3841-3843)cCt>cAt	p.P1281H																								CCACCGGACCCTCAGCCCCCA	0.692																																						ENST00000307745.7																			0											c.(3841-3843)cCt>cAt									12	15	14					17																	79414740		1988	4123	6111	SO:0001583	missense	0							g.chr17:79414740C>A																												ENST00000307745.7:c.3842C>A	17.37:g.79414740C>A	ENSP00000303486:p.Pro1281His						p.P1281H							15	3842	+									Missense_Mutation	SNP	ENST00000307745.7	37	c.3842C>A		.	.	.	.	.	.	.	.	.	.	c	16.40	3.113320	0.56398	.	.	ENSG00000171282	ENST00000307745	T	0.26810	1.71	4.07	4.07	0.47477	.	0.544378	0.14999	U	0.286239	T	0.29458	0.0734	L	0.51422	1.61	0.09310	N	1	P;P	0.43094	0.697;0.799	B;P	0.44946	0.215;0.465	T	0.13282	-1.0515	10	0.87932	D	0	.	10.5621	0.45152	0.1934:0.8066:0.0:0.0	.	1281;1281	Q9P281;F8WBW8	BAHC1_HUMAN;.	H	1281	ENSP00000303486:P1281H	ENSP00000303486:P1281H	P	+	2	0	AC110285.1	77029335	0.020000	0.18652	0.016000	0.15963	0.126000	0.20510	1.127000	0.31357	2.079000	0.62486	0.457000	0.33378	CCT		0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				7	27	1	0	0.00198382	1	0.00200138	7	27					A	79414740	C	A	79414740	3	1	79	1	0	0	0	0	1	0	0	0	1297	681	24	3	3715	3	BAHCC1	17	79414740	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3007	79414740	1780470	17837	28154											
C17orf70	80233	broad.mit.edu	37	chr17	79512857	79512857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctcacgacgtccacaGcagcattctcagcaaggagc	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79512857G>A	ENST00000327787.8	-	6	2271	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V|C17orf70_ENST00000537152.1_Missense_Mutation_p.A591V			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	742					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)			GACGTCCACAGCAGCATTCTC	0.637																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1771-1773)gCt>gTt		chromosome 17 open reading frame 70							53	38	43					17																	79512857		2201	4300	6501	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79512857G>A	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.2225C>T	17.37:g.79512857G>A	ENSP00000333283:p.Ala742Val					C17orf70_ENST00000327787.8_Missense_Mutation_p.A742V|C17orf70_ENST00000425898.2_Missense_Mutation_p.A391V	p.A591V	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		6	2297	-	all_neural(118;0.0878)|Melanoma(429;0.242)		742					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1772C>T	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	9.031	0.987306	0.18889	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	T;T;T	0.33865	1.39;1.39;1.39	4.56	0.971	0.19698	.	0.342070	0.24379	N	0.039031	T	0.25827	0.0629	L	0.57536	1.79	0.09310	N	1	P;P	0.36909	0.573;0.573	B;B	0.32677	0.107;0.15	T	0.19976	-1.0289	10	0.59425	D	0.04	.	2.7171	0.05190	0.4037:0.0:0.3887:0.2076	.	742;391	Q0VG06;E7EVV8	FP100_HUMAN;.	V	742;391;115;591	ENSP00000333283:A742V;ENSP00000399674:A391V;ENSP00000440151:A591V	ENSP00000333283:A742V	A	-	2	0	C17orf70	77123310	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.346000	0.07760	0.369000	0.24510	0.561000	0.74099	GCT		0.637	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		21	155	0	0	0	1	0	21	155					A	79512857	G	A	79512857	3	1	79	1	0	0	0	0	1	0	0	0	1883	971	34	2	436	2	C17orf70	17	79512857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98117	79512857	1682353	17838	28155											
C17orf70	80233	broad.mit.edu	37	chr17	79514338	79514338	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgggcaggtcgagcccGccgttctcaccagggcccag	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79514338G>T	ENST00000327787.8	-	5	1816	c.1770C>A	c.(1768-1770)ggC>ggA	p.G590G	C17orf70_ENST00000425898.2_Silent_p.G239G|C17orf70_ENST00000537152.1_Silent_p.G439G			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	590					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)			GGTCGAGCCCGCCGTTCTCAC	0.692																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1315-1317)ggC>ggA		chromosome 17 open reading frame 70							32	33	33					17																	79514338		2201	4290	6491	SO:0001819	synonymous_variant	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79514338G>T	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1770C>A	17.37:g.79514338G>T						C17orf70_ENST00000327787.8_Silent_p.G590G|C17orf70_ENST00000425898.2_Silent_p.G239G	p.G439G	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		5	1842	-	all_neural(118;0.0878)|Melanoma(429;0.242)		590					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Silent	SNP	ENST00000327787.8	37	c.1317C>A	CCDS32765.2																																																																																				0.692	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		90	252	1	0	2.79064e-53	1	3.47735e-53	90	252					T	79514338	G	T	79514338	2	4	79	1	0	0	0	0	0	0	0	1	1883	1074	38	3		3	C17orf70	17	79514338	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1481	79514338	1680872	17839	28156											
TSPAN10	83882	broad.mit.edu	37	chr17	79612028	79612028	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctgcaggaaactgcagGccagaagcccctctctgtgc	10	16	2	1	rs372786016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79612028G>T	ENST00000572675.1	+	0	47				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAACTGCAGGCCAGAAGCCC	0.642																																						ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							29	33	32					17																	79612028		2003	4172	6175			83882					integral to membrane		g.chr17:79612028G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612028G>T						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	137	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37			.	.	.	.	.	.	.	.	.	.	G	14.24	2.476551	0.44044	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.07444	3.19	4.3	1.18	0.20946	.	0.989793	0.08168	U	0.987521	T	0.07954	0.0199	N	0.24115	0.695	0.09310	N	1	P;P	0.44877	0.845;0.845	B;B	0.44278	0.445;0.347	T	0.37934	-0.9684	10	0.87932	D	0	-0.276	7.1517	0.25614	0.295:0.0:0.705:0.0	.	16;16	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	V	16	ENSP00000331620:G16V	ENSP00000331620:G16V	G	+	2	0	TSPAN10	77222433	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	0.530000	0.23036	0.118000	0.18165	0.462000	0.41574	GGC		0.642	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		42	213	1	0	6.5261e-18	1	7.22248e-18	42	213					T	79612028	G	T	79612028	1	4	79	0	1	0	0	0	0	0	0	0	16687	1203	42	3		3	TSPAN10	17	79612028	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97690	79612028	1583182	17840	28157											
CCDC137	339230	broad.mit.edu	37	chr17	79637483	79637483	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaaaaagcaaaaaaagCgtgagtggaggcgggagggg	18	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	ENST00000329214.8	+	3	900	c.497C>T	c.(496-498)gCg>gTg	p.A166V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	166							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAAAAAAAGCGTGAGTGGAG	0.597																																						ENST00000329214.8																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12						c.e3+1		coiled-coil domain containing 137																																				SO:0001630	splice_region_variant	339230							g.chr17:79637483C>T	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.497+1C>T	17.37:g.79637483C>T							p.A166_splice	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		3	900	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		166						Splice_Site	SNP	ENST00000329214.8	37	c.497_splice	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442249	0.25987	.	.	ENSG00000185298	ENST00000329214	D	0.90324	-2.65	4.53	1.29	0.21616	.	0.721738	0.13152	N	0.409835	T	0.76350	0.3975	N	0.12182	0.205	0.30472	N	0.773231	B	0.17465	0.022	B	0.08055	0.003	T	0.66799	-0.5832	10	0.34782	T	0.22	-9.089	1.3508	0.02172	0.1734:0.4604:0.1681:0.198	.	166	Q6PK04	CC137_HUMAN	V	166	ENSP00000329360:A166V	ENSP00000329360:A166V	A	+	2	0	CCDC137	77247888	0.999000	0.42202	0.998000	0.56505	0.896000	0.52359	0.270000	0.18607	1.103000	0.41568	0.655000	0.94253	GCG		0.597	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1		Missense_Mutation	24	112	0	0	0	1	0	24	112					T	79637483	C	T	79637483	5	4	79	1	0	0	0	0	0	0	1	0	2778	782	27	1	507	1	CCDC137	17	79637483	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25455	79637483	1557727	17841	28158											
HGS	9146	broad.mit.edu	37	chr17	79662228	79662228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacagactctcagcccattcCtccctctggtggccccttta	7	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79662228C>A	ENST00000329138.4	+	14	1289	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	385	Interaction with SNX1. {ECO:0000250}.|Pro-rich.				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)			CAGCCCATTCCTCCCTCTGGT	0.637																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1153-1155)cCt>cAt		hepatocyte growth factor-regulated tyrosine kinase substrate							103	99	100					17																	79662228		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79662228C>A	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.1154C>A	17.37:g.79662228C>A	ENSP00000331201:p.Pro385His						p.P385H	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		14	1289	+	all_neural(118;0.0878)|all_lung(278;0.23)		385			Interaction with SNX1 (By similarity).|Pro-rich.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.1154C>A	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191329	0.21954	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38240	1.15	3.87	2.89	0.33648	.	1.405290	0.04662	N	0.409156	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.25291	0.059	T	0.24835	-1.0149	10	0.49607	T	0.09	-0.052	2.7002	0.05146	0.191:0.5197:0.1848:0.1044	.	385	O14964	HGS_HUMAN	H	385	ENSP00000331201:P385H	ENSP00000331201:P385H	P	+	2	0	HGS	77272633	0.000000	0.05858	0.001000	0.08648	0.803000	0.45373	0.759000	0.26461	0.806000	0.34183	0.313000	0.20887	CCT		0.637	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		112	428	1	0	3.22635e-48	1	3.98049e-48	112	428					A	79662228	C	A	79662228	3	1	79	1	0	0	0	0	1	0	0	0	7117	681	24	3	1208	3	HGS	17	79662228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24745	79662228	1532982	17842	28159											
HGS	9146	broad.mit.edu	37	chr17	79667816	79667816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catggggagccagtcagtctCcatgggctaccagccttaca	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79667816C>T	ENST00000329138.4	+	20	2243	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	SLC25A10_ENST00000571730.1_5'Flank|MRPL12_ENST00000333676.3_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|SLC25A10_ENST00000541223.1_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	703	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGTCAGTCTCCATGGGCTAC	0.642																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2107-2109)tCc>tTc		hepatocyte growth factor-regulated tyrosine kinase substrate							46	43	44					17																	79667816		2203	4300	6503	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667816C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2108C>T	17.37:g.79667816C>T	ENSP00000331201:p.Ser703Phe						p.S703F	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2243	+	all_neural(118;0.0878)|all_lung(278;0.23)		703			Gln-rich.|Interaction with NF2.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.2108C>T	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487308	0.84854	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39997	1.05	4.49	4.49	0.54785	.	0.120001	0.34906	U	0.003594	T	0.33962	0.0881	N	0.19112	0.55	0.38773	D	0.95459	P	0.35923	0.528	B	0.39299	0.296	T	0.40117	-0.9580	10	0.51188	T	0.08	-22.7626	16.3251	0.82977	0.0:1.0:0.0:0.0	.	703	O14964	HGS_HUMAN	F	703;617	ENSP00000331201:S703F	ENSP00000331201:S703F	S	+	2	0	HGS	77278221	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	3.762000	0.55250	2.302000	0.77476	0.561000	0.74099	TCC		0.642	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		63	219	0	0	0	1	0	63	219					T	79667816	C	T	79667816	3	4	79	1	0	0	0	0	1	0	0	0	7117	855	30	2	2186	2	HGS	17	79667816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5588	79667816	1527394	17843	28160											
DYSFIP1	116729	broad.mit.edu	37	chr17	79792819	79792819	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcgggcatagcgggcagttCtgctaggcatcttgggcgct	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79792819C>A	ENST00000330261.4	-	1	90	c.11G>T	c.(10-12)aGa>aTa	p.R4I	FAM195B_ENST00000572645.1_5'Flank|PPP1R27_ENST00000573182.1_5'Flank|FAM195B_ENST00000455127.2_5'Flank|FAM195B_ENST00000576431.1_5'Flank|FAM195B_ENST00000575061.1_5'Flank|FAM195B_ENST00000573478.1_5'Flank|FAM195B_ENST00000538396.1_5'Flank|PPP1R27_ENST00000570394.1_Missense_Mutation_p.R4I	NM_001007533.3	NP_001007534.1	Q86WC6	PPR27_HUMAN	protein phosphatase 1, regulatory subunit 27	4					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCGGGCAGTTCTGCTAGGCAT	0.622																																						ENST00000570394.1																			0											c.(10-12)aGa>aTa		protein phosphatase 1, regulatory subunit 27							21	22	21					17																	79792819		2202	4295	6497	SO:0001583	missense	116729							g.chr17:79792819C>A	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.11G>T	17.37:g.79792819C>A	ENSP00000331065:p.Arg4Ile					PPP1R27_ENST00000330261.4_Missense_Mutation_p.R4I	p.R4I			Q86WC6	DYSI1_HUMAN			1	107	-			4						Missense_Mutation	SNP	ENST00000330261.4	37	c.11G>T	CCDS32767.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417275	0.83449	.	.	ENSG00000182676	ENST00000330261	T	0.62639	0.01	4.86	3.85	0.44370	.	0.384765	0.24683	N	0.036441	T	0.39009	0.1062	N	0.08118	0	0.44207	D	0.997034	B	0.26935	0.164	B	0.21917	0.037	T	0.38090	-0.9677	10	0.49607	T	0.09	.	9.9909	0.41870	0.1517:0.7011:0.1473:0.0	.	4	Q86WC6	PPR27_HUMAN	I	4	ENSP00000331065:R4I	ENSP00000331065:R4I	R	-	2	0	DYSFIP1	77386108	0.391000	0.25221	0.988000	0.46212	0.907000	0.53573	0.988000	0.29616	2.251000	0.74343	0.561000	0.74099	AGA		0.622	PPP1R27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439692.1	NM_001007533		18	91	1	0	2.35188e-11	1	2.50879e-11	18	91					A	79792819	C	A	79792819	3	1	79	1	0	0	0	0	1	0	0	0	4876	913	32	3	465	3	DYSFIP1	17	79792819	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125003	79792819	1402391	17844	28161											
ARHGDIA	396	broad.mit.edu	37	chr17	79827105	79827105	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatgccggacactatctctCggttaacctgcaggacccga	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827105C>T	ENST00000269321.7	-	5	494	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACTATCTCTCGGTTAACCTG	0.642																																						ENST00000269321.7																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(358-360)cGa>cAa		Rho GDP dissociation inhibitor (GDI) alpha							69	67	68					17																	79827105		2203	4300	6503	SO:0001583	missense	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79827105C>T	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.359G>A	17.37:g.79827105C>T	ENSP00000269321:p.Arg120Gln					ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q	p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	494	-	all_neural(118;0.0878)|Ovarian(332;0.12)		120					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Missense_Mutation	SNP	ENST00000269321.7	37	c.359G>A	CCDS11788.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235195	0.39498	.	.	ENSG00000141522	ENST00000269321;ENST00000541078;ENST00000400721	.	.	.	4.45	0.151	0.14888	Immunoglobulin E-set (1);	0.288011	0.33161	N	0.005205	T	0.25938	0.0632	L	0.54323	1.7	0.26686	N	0.971459	B;B;P	0.43938	0.036;0.078;0.822	B;B;B	0.34138	0.064;0.094;0.176	T	0.19224	-1.0312	9	0.59425	D	0.04	-9.8482	8.7674	0.34711	0.0:0.5049:0.0:0.4951	.	120;120;120	A8MXW0;B4DUV9;P52565	.;.;GDIR1_HUMAN	Q	120	.	ENSP00000269321:R120Q	R	-	2	0	ARHGDIA	77420394	0.851000	0.29673	0.081000	0.20488	0.379000	0.30106	1.371000	0.34250	0.159000	0.19401	0.467000	0.42956	CGA		0.642	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		63	256	0	0	0	1	0	63	256					T	79827105	C	T	79827105	3	4	79	1	0	0	0	0	1	0	0	0	890	884	31	1	263	1	ARHGDIA	17	79827105	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34286	79827105	1368105	17845	28162											
PYCR1	5831	broad.mit.edu	37	chr17	79892866	79892866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctcttccacctccgtgCagaagcccacgctgctcagc	9	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79892866C>A	ENST00000329875.8	-	4	540	c.476G>T	c.(475-477)tGc>tTc	p.C159F	PYCR1_ENST00000337943.5_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	159					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	CACCTCCGTGCAGAAGCCCAC	0.697																																						ENST00000337943.5																			0				endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(475-477)tGc>tTc		pyrroline-5-carboxylate reductase 1	L-Proline(DB00172)|NADH(DB00157)						50	42	45					17																	79892866		2203	4299	6502	SO:0001583	missense	5831				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity	g.chr17:79892866C>A		CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.476G>T	17.37:g.79892866C>A	ENSP00000328858:p.Cys159Phe					PYCR1_ENST00000329875.8_Missense_Mutation_p.C159F|PYCR1_ENST00000577756.1_Missense_Mutation_p.C159F|PYCR1_ENST00000403172.4_Missense_Mutation_p.C159F|PYCR1_ENST00000402252.2_Missense_Mutation_p.C186F	p.C159F	NM_153824.1	NP_722546.1	P32322	P5CR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	918	-	all_neural(118;0.0878)|Ovarian(332;0.12)		159					A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Missense_Mutation	SNP	ENST00000329875.8	37	c.476G>T	CCDS11795.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360369	0.82353	.	.	ENSG00000183010	ENST00000337943;ENST00000329875;ENST00000403172;ENST00000402252;ENST00000405481	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	4.13	4.13	0.48395	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.76550	0.4003	M	0.64630	1.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.985;0.997;0.998;0.997;0.998;0.982;0.999	T	0.80412	-0.1393	10	0.87932	D	0	.	16.0278	0.80555	0.0:1.0:0.0:0.0	.	131;186;159;159;159;159;159	B7Z8T1;B4DMU0;E7D7X9;Q9HBQ4;P32322;E7D7Y0;A6NFM2	.;.;.;.;P5CR1_HUMAN;.;.	F	159;159;159;186;131	ENSP00000336579:C159F;ENSP00000328858:C159F;ENSP00000385483:C159F;ENSP00000384949:C186F	ENSP00000328858:C159F	C	-	2	0	PYCR1	77486157	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.594000	0.82698	1.866000	0.54105	0.555000	0.69702	TGC		0.697	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441953.1			32	206	1	0	1.26612e-14	1	1.37737e-14	32	206					A	79892866	C	A	79892866	3	1	79	1	0	0	0	0	1	0	0	0	12905	710	25	3	587	3	PYCR1	17	79892866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65761	79892866	1302344	17846	28163											
RAC3	5881	broad.mit.edu	37	chr17	79990867	79990867	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtgagcccggcctccttCgagaatgttcgtgccaaggt	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79990867C>T	ENST00000306897.4	+	4	408	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	90					actin cytoskeleton organization (GO:0030036)|cell projection assembly (GO:0030031)|GTP catabolic process (GO:0006184)|intracellular signal transduction (GO:0035556)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|kidney(1)|skin(1)	3	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)			CGGCCTCCTTCGAGAATGTTC	0.617																																						ENST00000306897.4																			0				NS(1)|kidney(1)|skin(1)	3						c.(268-270)ttC>ttT		ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)							76	83	81					17																	79990867		2203	4300	6503	SO:0001819	synonymous_variant	5881				actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:79990867C>T	AF008591	CCDS11798.1	17q25.3	2014-01-30				ENSG00000169750		"Endogenous ligands"	9803	protein-coding gene	gene with protein product		602050					Standard	NM_005052		Approved		uc002kdf.3	P60763		ENST00000306897.4:c.270C>T	17.37:g.79990867C>T							p.F90F	NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		4	408	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		90					O14658|Q5U0M8	Silent	SNP	ENST00000306897.4	37	c.270C>T	CCDS11798.1																																																																																				0.617	RAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442064.1			137	560	0	0	0	1	0	137	560					T	79990867	C	T	79990867	2	4	79	1	0	0	0	0	0	0	0	1	13026	883	31	1		1	RAC3	17	79990867	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98001	79990867	1204343	17847	28164											
GPS1	2873	broad.mit.edu	37	chr17	80012478	80012478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccacgcggaagaaggCgctgctgaagctggagaagc	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80012478C>T	ENST00000306823.6	+	4	436	c.413C>T	c.(412-414)gCg>gTg	p.A138V	GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|GPS1_ENST00000392358.2_Missense_Mutation_p.A174V|GPS1_ENST00000320548.4_Missense_Mutation_p.A118V			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	138					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)			CGGAAGAAGGCGCTGCTGAAG	0.652																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(520-522)gCg>gTg		G protein pathway suppressor 1							32	27	29					17																	80012478		2194	4294	6488	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80012478C>T		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.413C>T	17.37:g.80012478C>T	ENSP00000302873:p.Ala138Val					GPS1_ENST00000320548.4_Missense_Mutation_p.A118V|GPS1_ENST00000578552.1_Missense_Mutation_p.A134V|GPS1_ENST00000355130.2_Missense_Mutation_p.A174V|GPS1_ENST00000306823.6_Missense_Mutation_p.A138V	p.A174V	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		4	870	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		138					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.521C>T	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830480	0.50845	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130;ENST00000392357	.	.	.	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.54908	1.71	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;1.0;1.0;0.993;1.0;1.0	P;D;D;P;D;D	0.74348	0.74;0.983;0.981;0.622;0.982;0.97	T	0.70641	-0.4816	9	0.26408	T	0.33	-27.5226	15.9283	0.79639	0.0:1.0:0.0:0.0	.	130;174;123;134;138;174	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	V	174;124;138;174;59	.	ENSP00000302873:A138V	A	+	2	0	GPS1	77605767	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	6.989000	0.76219	1.981000	0.57761	0.313000	0.20887	GCG		0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		26	91	0	0	0	1	0	26	91					T	80012478	C	T	80012478	3	4	79	1	0	0	0	0	1	0	0	0	6762	768	27	1	584	1	GPS1	17	80012478	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21611	80012478	1182732	17848	28165											
DUS1L	64118	broad.mit.edu	37	chr17	80019817	80019817	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggacgctgcacccgacaGgggccccttctgctccttgg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80019817G>T	ENST00000354321.7	-	5	1038	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	185							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)			GCACCCGACAGGGGCCCCTTC	0.657																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(553-555)Ctg>Atg		dihydrouridine synthase 1-like (S. cerevisiae)							114	104	108					17																	80019817		2203	4300	6503	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80019817G>T		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.553C>A	17.37:g.80019817G>T	ENSP00000346280:p.Leu185Met					DUS1L_ENST00000306796.5_Missense_Mutation_p.L185M	p.L185M			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		5	1038	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		185					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.553C>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072704	0.20147	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.29655	1.56;1.56;1.56	4.08	-1.31	0.09230	Aldolase-type TIM barrel (1);	0.288040	0.33650	N	0.004681	T	0.26629	0.0651	M	0.65498	2.005	0.38905	D	0.957412	B;B;B	0.28760	0.058;0.005;0.221	B;B;B	0.33846	0.171;0.09;0.152	T	0.03739	-1.1008	10	0.34782	T	0.22	-10.5432	4.7951	0.13269	0.2839:0.0:0.5745:0.1416	.	58;185;54	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	M	185;185;58;53	ENSP00000346280:L185M;ENSP00000303515:L185M;ENSP00000445110:L53M	ENSP00000303515:L185M	L	-	1	2	DUS1L	77613106	0.953000	0.32496	0.350000	0.25708	0.706000	0.40770	1.464000	0.35288	-0.360000	0.08138	0.551000	0.68910	CTG		0.657	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		88	569	1	0	4.25105e-50	1	5.26406e-50	88	569					T	80019817	G	T	80019817	3	4	79	1	0	0	0	0	1	0	0	0	4821	991	35	3	904	3	DUS1L	17	80019817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7339	80019817	1175393	17849	28166											
DUS1L	64118	broad.mit.edu	37	chr17	80021381	80021381	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccactcgtcctgcagaaaGgcgccatagtgacctgcaag	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80021381G>T	ENST00000354321.7	-	3	845	c.360C>A	c.(358-360)gcC>gcA	p.A120A	DUS1L_ENST00000306796.5_Silent_p.A120A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	120							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)			CCTGCAGAAAGGCGCCATAGT	0.602																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(358-360)gcC>gcA		dihydrouridine synthase 1-like (S. cerevisiae)							178	153	161					17																	80021381		2203	4300	6503	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80021381G>T		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.360C>A	17.37:g.80021381G>T						DUS1L_ENST00000306796.5_Silent_p.A120A	p.A120A			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		3	845	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		120					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.360C>A	CCDS32775.1																																																																																				0.602	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		72	799	1	0	5.44642e-36	1	6.51243e-36	72	799					T	80021381	G	T	80021381	2	4	79	1	0	0	0	0	0	0	0	1	4821	987	35	3		3	DUS1L	17	80021381	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1564	80021381	1173829	17850	28167											
FASN	2194	broad.mit.edu	37	chr17	80037394	80037394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaagctcagctcctggcGgtccaggccctggtggctct	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80037394G>A	ENST00000306749.2	-	42	7455	c.7237C>T	c.(7237-7239)Cgc>Tgc	p.R2413C	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2413	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)	AGCTCCTGGCGGTCCAGGCCC	0.637																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(7237-7239)Cgc>Tgc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						67	58	61					17																	80037394		2203	4298	6501	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80037394G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7237C>T	17.37:g.80037394G>A	ENSP00000304592:p.Arg2413Cys					FASN_ENST00000579758.1_5'UTR	p.R2413C	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		42	7455	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2413			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.7237C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484493	0.63962	.	.	ENSG00000169710	ENST00000306749	T	0.27402	1.67	4.16	2.13	0.27403	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.618907	0.15836	N	0.242275	T	0.48059	0.1479	M	0.70842	2.15	0.47994	D	0.999565	D	0.76494	0.999	P	0.61477	0.889	T	0.46442	-0.9191	10	0.66056	D	0.02	-12.1525	10.2149	0.43162	0.166:0.0:0.834:0.0	.	2413	P49327	FAS_HUMAN	C	2413	ENSP00000304592:R2413C	ENSP00000304592:R2413C	R	-	1	0	FASN	77630683	1.000000	0.71417	0.410000	0.26471	0.899000	0.52679	4.264000	0.58859	0.500000	0.27991	0.561000	0.74099	CGC		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		86	368	0	0	0	1	0	86	368					A	80037394	G	A	80037394	3	1	79	1	0	0	0	0	1	0	0	0	5708	1116	39	1	306	1	FASN	17	80037394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16013	80037394	1157816	17851	28168											
FASN	2194	broad.mit.edu	37	chr17	80038697	80038697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcacggagttgagccGcatcagggtggggccctccg	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80038697G>A	ENST00000306749.2	-	39	6915	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2233	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)	GAGTTGAGCCGCATCAGGGTG	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(6697-6699)Cgg>Tgg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						28	33	31					17																	80038697		2197	4293	6490	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80038697G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6697C>T	17.37:g.80038697G>A	ENSP00000304592:p.Arg2233Trp					FASN_ENST00000579758.1_Intron	p.R2233W	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		39	6915	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2233			Thioesterase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.6697C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798163	0.50208	.	.	ENSG00000169710	ENST00000306749	T	0.28666	1.6	4.8	2.71	0.32032	.	0.483859	0.20406	N	0.092959	T	0.24509	0.0594	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	P	0.52343	0.696	T	0.12192	-1.0557	10	0.72032	D	0.01	-30.9607	11.7206	0.51680	0.0:0.0:0.5351:0.4649	.	2233	P49327	FAS_HUMAN	W	2233	ENSP00000304592:R2233W	ENSP00000304592:R2233W	R	-	1	2	FASN	77631986	0.160000	0.22878	0.011000	0.14972	0.381000	0.30169	2.858000	0.48356	0.565000	0.29255	0.591000	0.81541	CGG		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		15	76	0	0	0	1	0	15	76					A	80038697	G	A	80038697	3	1	79	1	0	0	0	0	1	0	0	0	5708	1086	38	1	858	1	FASN	17	80038697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1303	80038697	1156513	17852	28169											
FASN	2194	broad.mit.edu	37	chr17	80039892	80039892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggcccacctgggagGccttcgtgccggcgtttctc	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039892G>A	ENST00000306749.2	-	36	6374	c.6156C>T	c.(6154-6156)ggC>ggT	p.G2052G	FASN_ENST00000579758.1_Splice_Site	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2052	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CACCTGGGAGGCCTTCGTGCC	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000579758.1																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.e5+1		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						50	52	51					17																	80039892		2203	4298	6501	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80039892G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6156C>T	17.37:g.80039892G>A						FASN_ENST00000306749.2_Silent_p.G2052G				P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		5	685	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)							Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	37		CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562789	0.45694	.	.	ENSG00000169710	ENST00000545909	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.66218	0.2767	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69669	-0.5083	5	0.87932	D	0	-30.5223	9.672	0.40017	0.0:0.1316:0.6472:0.2212	.	.	.	.	V	813	.	ENSP00000438053:A813V	A	-	2	0	FASN	77633181	0.998000	0.40836	1.000000	0.80357	0.642000	0.38348	0.189000	0.17037	2.187000	0.69744	0.313000	0.20887	GCC		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		48	184	0	0	0	1	0	48	184					A	80039892	G	A	80039892	2	1	79	1	0	0	0	0	0	0	0	1	5708	1190	42	2		2	FASN	17	80039892	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1195	80039892	1155318	17853	28170											
FASN	2194	broad.mit.edu	37	chr17	80039903	80039903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggaggccttcgtgccGgcgtttctcacagatacgct	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039903G>A	ENST00000306749.2	-	36	6363	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2049	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCTTCGTGCCGGCGTTTCTCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(6145-6147)Cgg>Tgg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						63	64	63					17																	80039903		2203	4300	6503	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80039903G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6145C>T	17.37:g.80039903G>A	ENSP00000304592:p.Arg2049Trp					FASN_ENST00000579758.1_5'UTR	p.R2049W	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		36	6363	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		2049			Beta-ketoacyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.6145C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759417	0.49468	.	.	ENSG00000169710	ENST00000306749	T	0.48522	0.81	4.77	-0.811	0.10857	Polyketide synthase/Fatty acid synthase, KR (1);NAD(P)-binding domain (1);	0.332110	0.26642	N	0.023248	T	0.69913	0.3164	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.63192	0.912	T	0.69548	-0.5116	10	0.59425	D	0.04	-29.0112	15.7178	0.77681	0.0:0.0:0.4513:0.5487	.	2049	P49327	FAS_HUMAN	W	2049	ENSP00000304592:R2049W	ENSP00000304592:R2049W	R	-	1	2	FASN	77633192	0.011000	0.17503	0.515000	0.27774	0.624000	0.37722	1.416000	0.34759	0.039000	0.15632	0.313000	0.20887	CGG		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		57	213	0	0	0	1	0	57	213					A	80039903	G	A	80039903	3	1	79	1	0	0	0	0	1	0	0	0	5708	1115	39	1	1422	1	FASN	17	80039903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11	80039903	1155307	17854	28171											
FASN	2194	broad.mit.edu	37	chr17	80042511	80042511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgggcatggcgcagcgagGagcagacccagcggatggag	19	10	0	1	rs567629999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80042511G>A	ENST00000306749.2	-	27	4864	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1549					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)	GCGCAGCGAGGAGCAGACCCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(4645-4647)tCc>tTc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						35	34	34					17																	80042511		2185	4292	6477	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80042511G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4646C>T	17.37:g.80042511G>A	ENSP00000304592:p.Ser1549Phe						p.S1549F	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		27	4864	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1549					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.4646C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249919	0.80024	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29142	1.58	4.35	4.35	0.52113	Polyketide synthase, enoylreductase (1);	0.000000	0.85682	D	0.000000	T	0.54759	0.1878	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61431	-0.7064	10	0.87932	D	0	-28.1803	16.8449	0.85978	0.0:0.0:1.0:0.0	.	1549	P49327	FAS_HUMAN	F	1549;514	ENSP00000304592:S1549F	ENSP00000304592:S1549F	S	-	2	0	FASN	77635800	1.000000	0.71417	0.913000	0.36048	0.779000	0.44077	9.112000	0.94314	1.964000	0.57103	0.313000	0.20887	TCC		0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		8	53	0	0	0	1	0	8	53					A	80042511	G	A	80042511	3	1	79	1	0	0	0	0	1	0	0	0	5708	1174	41	2	2957	2	FASN	17	80042511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2608	80042511	1152699	17855	28172											
FASN	2194	broad.mit.edu	37	chr17	80045103	80045103	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccggccactgtgaccctcaGccacctgctcaccaccacgt	7	20	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045103G>T	ENST00000306749.2	-	21	3468	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1084					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)	GTGACCCTCAGCCACCTGCTC	0.687																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(3250-3252)Ctg>Atg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						17	18	18					17																	80045103		2185	4281	6466	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045103G>T	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.3250C>A	17.37:g.80045103G>T	ENSP00000304592:p.Leu1084Met						p.L1084M	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		21	3468	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1084					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.3250C>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733574	0.48939	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.27890	1.64	3.19	2.09	0.27110	.	0.083165	0.47093	D	0.000253	T	0.44746	0.1308	M	0.80183	2.485	0.42971	D	0.994435	D	0.56287	0.975	P	0.56163	0.793	T	0.44483	-0.9325	10	0.45353	T	0.12	-11.5452	7.486	0.27432	0.2453:0.0:0.7547:0.0	.	1084	P49327	FAS_HUMAN	M	1084;49	ENSP00000304592:L1084M	ENSP00000304592:L1084M	L	-	1	2	FASN	77638392	0.882000	0.30256	0.025000	0.17156	0.005000	0.04900	1.371000	0.34250	1.628000	0.50416	0.491000	0.48974	CTG		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		14	65	1	0	1.05317e-09	1	1.11087e-09	14	65					T	80045103	G	T	80045103	3	4	79	1	0	0	0	0	1	0	0	0	5708	962	34	3	4377	3	FASN	17	80045103	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2592	80045103	1150107	17856	28173											
FASN	2194	broad.mit.edu	37	chr17	80045873	80045873	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgacacctcgaaggcacgGgaggcctccaggagccgtac	13	14	1	1	rs539431759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045873G>A	ENST00000306749.2	-	18	3041	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	941					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)	CGAAGGCACGGGAGGCCTCCA	0.687													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14662	0.0		0.0	False		,,,				2504	0.0				Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2821-2823)tcC>tcT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						52	51	52					17																	80045873		2200	4298	6498	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80045873G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2823C>T	17.37:g.80045873G>A							p.S941S	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		18	3041	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		941					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2823C>T	CCDS11801.1																																																																																				0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		117	402	0	0	0	1	0	117	402					A	80045873	G	A	80045873	2	1	79	1	0	0	0	0	0	0	0	1	5708	1219	43	2		2	FASN	17	80045873	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	770	80045873	1149337	17857	28174											
FASN	2194	broad.mit.edu	37	chr17	80047259	80047259	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaactcaaacaccgggGcctggacatcgtgggagcct	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	ENST00000306749.2	-	13	2185	c.1967C>T	c.(1966-1968)gCc>gTc	p.A656V		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	656	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AAACACCGGGGCCTGGACATC	0.637																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.e13-1		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						47	49	48					17																	80047259		2202	4298	6500	SO:0001630	splice_region_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80047259G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1966-1C>T	17.37:g.80047259G>A							p.A656_splice	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		13	2185	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		656			Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	37	c.1965_splice	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442750	0.43326	.	.	ENSG00000169710	ENST00000306749	T	0.46063	0.88	3.61	2.62	0.31277	Acyl transferase/acyl hydrolase/lysophospholipase (1);Malonyl-CoA ACP transacylase, ACP-binding (1);Acyl transferase (1);	0.134441	0.48286	D	0.000182	T	0.40956	0.1138	M	0.71206	2.165	0.33081	D	0.536584	P	0.49559	0.925	P	0.45037	0.467	T	0.53422	-0.8441	10	0.31617	T	0.26	-17.289	7.0309	0.24967	0.0:0.1538:0.5935:0.2526	.	656	P49327	FAS_HUMAN	V	656	ENSP00000304592:A656V	ENSP00000304592:A656V	A	-	2	0	FASN	77640548	0.874000	0.30092	0.302000	0.25058	0.007000	0.05969	1.180000	0.32005	0.812000	0.34326	-0.467000	0.05162	GCC		0.637	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	Missense_Mutation	74	304	0	0	0	1	0	74	304					A	80047259	G	A	80047259	5	1	79	1	0	0	0	0	0	0	1	0	5708	1217	42	2	5692	2	FASN	17	80047259	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1386	80047259	1147951	17858	28175											
FASN	2194	broad.mit.edu	37	chr17	80050687	80050687	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgaggggaaggtcacGcctgcggagggctcggctca	16	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	ENST00000306749.2	-	7	998	c.780C>T	c.(778-780)ggC>ggT	p.G260G		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	260	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGAAGGTCACGCCTGCGGAGG	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.e7-1		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						26	28	27					17																	80050687		2175	4279	6454	SO:0001630	splice_region_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80050687G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.779-1C>T	17.37:g.80050687G>A							p.G260_splice	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		7	998	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		260			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	ENST00000306749.2	37	c.778_splice	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	Silent	17	48	0	0	0	1	0	17	48					A	80050687	G	A	80050687	5	1	79	1	0	0	0	0	0	0	1	0	5708	1101	38	1	6903	1	FASN	17	80050687	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3428	80050687	1144523	17859	28176											
CCDC57	284001	broad.mit.edu	37	chr17	80159511	80159511	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctctggctagcgcctGcctcagcttagctgcctcta	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	ENST00000389641.4	-	2	346	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	104										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)			GCTAGCGCCTGCCTCAGCTTA	0.662																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(310-312)Cag>Tag		coiled-coil domain containing 57							29	34	32					17																	80159511		2162	4265	6427	SO:0001587	stop_gained	284001							g.chr17:80159511G>A	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.310C>T	17.37:g.80159511G>A	ENSP00000374292:p.Gln104*					CCDC57_ENST00000389641.4_Nonsense_Mutation_p.Q104*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q104*	p.Q104*	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	346	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		104					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	ENST00000389641.4	37	c.310C>T		.	.	.	.	.	.	.	.	.	.	G	19.52	3.843251	0.71488	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	.	.	.	5.48	5.48	0.80851	.	0.313756	0.30311	N	0.009909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-28.3715	16.8142	0.85729	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000374292:Q104X	Q	-	1	0	CCDC57	77752800	0.820000	0.29190	0.850000	0.33497	0.182000	0.23217	2.169000	0.42434	2.563000	0.86464	0.650000	0.86243	CAG		0.662	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		27	269	0	0	0	1	0	27	269					A	80159511	G	A	80159511	4	1	79	1	0	0	0	0	0	1	0	0	2834	1328	46	2	2501	2	CCDC57	17	80159511	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108824	80159511	1035699	17860	28177											
CCDC57	284001	broad.mit.edu	37	chr17	80159556	80159556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctcgctcacctctgcccGcctggcctcttcccactccc	7	22	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159556G>A	ENST00000389641.4	-	2	301	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	CCDC57_ENST00000392347.1_Missense_Mutation_p.R89W|CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	89										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)			ACCTCTGCCCGCCTGGCCTCT	0.642																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(265-267)Cgg>Tgg		coiled-coil domain containing 57							43	50	48					17																	80159556		2155	4251	6406	SO:0001583	missense	284001							g.chr17:80159556G>A	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.265C>T	17.37:g.80159556G>A	ENSP00000374292:p.Arg89Trp					CCDC57_ENST00000389641.4_Missense_Mutation_p.R89W|CCDC57_ENST00000392343.3_Missense_Mutation_p.R89W	p.R89W	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	301	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		89					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.265C>T		.	.	.	.	.	.	.	.	.	.	G	16.61	3.172445	0.57584	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.24350	3.03;3.03;1.86	5.48	3.22	0.36961	.	0.236359	0.36167	N	0.002743	T	0.27454	0.0674	N	0.19112	0.55	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56612	0.627;0.802	T	0.07233	-1.0783	10	0.87932	D	0	-26.0033	11.2565	0.49056	0.0:0.1293:0.7225:0.1483	.	89;89	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	W	89	ENSP00000374292:R89W;ENSP00000376158:R89W;ENSP00000376154:R89W	ENSP00000374292:R89W	R	-	1	2	CCDC57	77752845	1.000000	0.71417	0.995000	0.50966	0.445000	0.32107	3.666000	0.54540	1.262000	0.44165	0.650000	0.86243	CGG		0.642	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		35	355	0	0	0	1	0	35	355					A	80159556	G	A	80159556	3	1	79	1	0	0	0	0	1	0	0	0	2834	1086	38	1	2546	1	CCDC57	17	80159556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	80159556	1035654	17861	28178											
CCDC57	284001	broad.mit.edu	37	chr17	80159683	80159683	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccgcagtttcccctgCgcctcctccagctggctccg	10	19	0	0	rs376303728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	ENST00000389641.4	-	2	174	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_ENST00000392347.1_Silent_p.A46A|CCDC57_ENST00000392343.3_Silent_p.A46A			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	46										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)			GTTTCCCCTGCGCCTCCTCCA	0.667																																						ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(136-138)gcG>gcA		coiled-coil domain containing 57		C		0,4280		0,0,2140	41	48	46		138	-9.9	0.1	17		46	1,8489		0,1,4244	no	coding-synonymous	CCDC57	NM_198082.2		0,1,6384	TT,TC,CC		0.0118,0.0,0.0078		46/916	80159683	1,12769	2140	4245	6385	SO:0001819	synonymous_variant	284001							g.chr17:80159683C>T	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.138G>A	17.37:g.80159683C>T						CCDC57_ENST00000389641.4_Silent_p.A46A|CCDC57_ENST00000392343.3_Silent_p.A46A	p.A46A	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		2	174	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		46					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37	c.138G>A																																																																																					0.667	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		88	337	0	0	0	1	0	88	337					T	80159683	C	T	80159683	2	4	79	1	0	0	0	0	0	0	0	1	2834	755	27	1		1	CCDC57	17	80159683	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127	80159683	1035527	17862	28179											
CSNK1D	1453	broad.mit.edu	37	chr17	80202665	80202665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggagagttctcatcggtGcacgacagactgaagaccac	11	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80202665G>A	ENST00000314028.6	-	9	1589	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	414					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)			TCTCATCGGTGCACGACAGAC	0.567											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000314028.6																			0				breast(2)|large_intestine(2)|lung(7)	11						c.(1240-1242)Cac>Tac		casein kinase 1, delta							118	87	97					17																	80202665		2203	4300	6503	SO:0001583	missense	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80202665G>A		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.1240C>T	17.37:g.80202665G>A	ENSP00000324464:p.His414Tyr		OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1196	CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_3'UTR	p.H414Y	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		9	1589	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		414					A2I2P2|Q96KZ6|Q9BTN5	Missense_Mutation	SNP	ENST00000314028.6	37	c.1240C>T	CCDS11805.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208789	0.58343	.	.	ENSG00000141551	ENST00000314028;ENST00000398519	T	0.61158	0.13	5.51	4.48	0.54585	.	0.473238	0.23896	N	0.043484	T	0.32615	0.0835	N	0.08118	0	0.80722	D	1	B	0.21821	0.061	B	0.15484	0.013	T	0.23084	-1.0198	10	0.02654	T	1	.	14.9006	0.70675	0.0:0.1436:0.8564:0.0	.	414	P48730	KC1D_HUMAN	Y	414;357	ENSP00000324464:H414Y	ENSP00000324464:H414Y	H	-	1	0	CSNK1D	77795954	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.153000	0.77428	2.605000	0.88082	0.655000	0.94253	CAC		0.567	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		66	262	0	0	0	1	0	66	262					A	80202665	G	A	80202665	3	1	79	1	0	0	0	0	1	0	0	0	3963	1319	46	2	11	2	CSNK1D	17	80202665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42982	80202665	992545	17863	28180											
CD7	924	broad.mit.edu	37	chr17	80274664	80274664	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atagtcaggttgtcctgggaCcctgagaagtcgatgcggcc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80274664C>A	ENST00000312648.3	-	2	382	c.276G>T	c.(274-276)ggG>ggT	p.G92G	CD7_ENST00000578509.1_5'UTR|CD7_ENST00000584284.1_Silent_p.G92G|CD7_ENST00000583376.1_5'UTR	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	92	Ig-like.				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)			TGTCCTGGGACCCTGAGAAGT	0.622																																					Pancreas(45;804 1068 19702 28207 28798)	ENST00000584284.1																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8						c.(274-276)ggG>ggT		CD7 molecule							127	115	119					17																	80274664		2203	4300	6503	SO:0001819	synonymous_variant	924				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	g.chr17:80274664C>A	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.276G>T	17.37:g.80274664C>A						CD7_ENST00000583376.1_5'UTR|CD7_ENST00000578509.1_5'UTR|CD7_ENST00000312648.3_Silent_p.G92G	p.G92G			P09564	CD7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)		2	357	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		92			Ig-like.			Silent	SNP	ENST00000312648.3	37	c.276G>T	CCDS11807.1																																																																																				0.622	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442826.1	NM_006137		148	687	1	0	1.91924e-68	1	2.4338e-68	148	687					A	80274664	C	A	80274664	2	1	79	1	0	0	0	0	0	0	0	1	3041	494	18	3		3	CD7	17	80274664	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71999	80274664	920546	17864	28181											
SECTM1	6398	broad.mit.edu	37	chr17	80282651	80282651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgctctcctgcccgtgGgcacgcagcttgatgttgac	13	13	1	2	rs202089016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80282651G>A	ENST00000269389.3	-	3	560	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SECTM1_ENST00000580437.1_Silent_p.A70A	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	70					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	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;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CCTGCCCGTGGGCACGCAGCT	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15705	0.0		0.0	False		,,,				2504	0.0					ENST00000269389.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(208-210)gcC>gcT		secreted and transmembrane 1							130	88	102					17																	80282651		2203	4300	6503	SO:0001819	synonymous_variant	6398				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	g.chr17:80282651G>A	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"K12 protein", "type 1a transmembrane protein"	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.210C>T	17.37:g.80282651G>A						SECTM1_ENST00000580437.1_Silent_p.A70A	p.A70A	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		3	560	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		70					B2R7H0|O00466	Silent	SNP	ENST00000269389.3	37	c.210C>T	CCDS11808.1																																																																																				0.607	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		6	222	0	0	0	1	0	6	222					A	80282651	G	A	80282651	2	1	79	1	0	0	0	0	0	0	0	1	14058	1219	43	2		2	SECTM1	17	80282651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7987	80282651	912559	17865	28182											
UTS2R	2837	broad.mit.edu	37	chr17	80332627	80332627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatcttcacgctgaccGtcatgagcagcgagcgctac	10	15	3	2	rs200671433		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80332627G>A	ENST00000313135.2	+	1	475	c.427G>A	c.(427-429)Gtc>Atc	p.V143I		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	143					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CACGCTGACCGTCATGAGCAG	0.677													.|||	1	0.000199681	0.0008	0.0	5008	,	,		14779	0.0		0.0	False		,,,				2504	0.0					ENST00000313135.2																			0				breast(1)|endometrium(4)|kidney(1)|lung(2)	8						c.(427-429)Gtc>Atc		urotensin 2 receptor		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	38	31	33		427	1.6	0.4	17	dbSNP_132	33	0,8598		0,0,4299	no	missense	UTS2R	NM_018949.1	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	143/390	80332627	1,13003	2203	4299	6502	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332627G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"G protein-coupled receptor 14"	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.427G>A	17.37:g.80332627G>A	ENSP00000323516:p.Val143Ile						p.V143I	NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	475	+	Breast(20;0.00106)|all_neural(118;0.0804)		143					B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.427G>A	CCDS11810.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.07	1.826543	0.32329	2.27E-4	0.0	ENSG00000181408	ENST00000313135	T	0.39997	1.05	4.88	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.411084	0.25117	N	0.033019	T	0.30039	0.0752	L	0.41573	1.285	0.31819	N	0.626224	B	0.21520	0.057	B	0.20767	0.031	T	0.24977	-1.0145	10	0.27785	T	0.31	.	8.8159	0.34996	0.0819:0.3003:0.6178:0.0	.	143	Q9UKP6	UR2R_HUMAN	I	143	ENSP00000323516:V143I	ENSP00000323516:V143I	V	+	1	0	UTS2R	77925916	0.479000	0.25925	0.444000	0.26895	0.983000	0.72400	0.913000	0.28611	0.158000	0.19367	0.551000	0.68910	GTC		0.677	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		38	117	0	0	0	1	0	38	117					A	80332627	G	A	80332627	3	1	79	1	0	0	0	0	1	0	0	0	17160	1145	40	1	429	1	UTS2R	17	80332627	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49976	80332627	862583	17866	28183											
C17orf101	79701	broad.mit.edu	37	chr17	80356166	80356166	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagttggagaggtacagcagCgaggtgtagtcgaaggagcc	17	6	0	1	rs137991522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80356166C>T	ENST00000313056.5	-	8	880	c.729G>A	c.(727-729)tcG>tcA	p.S243S	OGFOD3_ENST00000329197.5_Silent_p.S243S|RP13-20L14.4_ENST00000579188.1_RNA	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	243	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)										GGTACAGCAGCGAGGTGTAGT	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14882	0.0		0.0	False		,,,				2504	0.0					ENST00000313056.5																			0											c.(727-729)tcG>tcA		2-oxoglutarate and iron-dependent oxygenase domain containing 3		C	,	2,4404	4.2+/-10.8	0,2,2201	50	45	47		729,729	-4.5	1	17	dbSNP_134	47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C17orf101	NM_024648.2,NM_175902.4	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	243/320,243/332	80356166	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79701							g.chr17:80356166C>T	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.729G>A	17.37:g.80356166C>T						OGFOD3_ENST00000329197.5_Silent_p.S243S	p.S243S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3					8	880	-								C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	c.729G>A	CCDS11811.1																																																																																				0.622	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		48	241	0	0	0	1	0	48	241					T	80356166	C	T	80356166	2	4	79	1	0	0	0	0	0	0	0	1	1853	755	27	1		1	C17orf101	17	80356166	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23539	80356166	839044	17867	28184											
HEXDC	284004	broad.mit.edu	37	chr17	80391663	80391663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtcctggagctacacCcaggcgcccagcggctgcac	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80391663C>T	ENST00000327949.9	+	4	423	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S|HEXDC_ENST00000337014.6_Missense_Mutation_p.P138S			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	138					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCTACACCCAGGCGCCCA	0.627																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(412-414)Cca>Tca		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							31	35	33					17																	80391663		1942	4134	6076	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80391663C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.412C>T	17.37:g.80391663C>T	ENSP00000332634:p.Pro138Ser					HEXDC_ENST00000577944.1_Missense_Mutation_p.P138S|HEXDC_ENST00000327949.9_Missense_Mutation_p.P138S	p.P138S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		5	886	+	Breast(20;0.00106)|all_neural(118;0.0804)		138					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.412C>T		.	.	.	.	.	.	.	.	.	.	C	5.128	0.209217	0.09757	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.91577	-2.87;-2.87	5.3	-1.34	0.09143	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.737833	0.12882	N	0.431343	D	0.87462	0.6183	M	0.66297	2.02	0.24115	N	0.995827	B;B	0.32283	0.362;0.34	B;B	0.33846	0.16;0.171	T	0.77983	-0.2382	10	0.45353	T	0.12	-3.3651	9.2246	0.37398	0.363:0.397:0.24:0.0	.	138;138	Q8WVB3;Q8WVB3-2	HEXDC_HUMAN;.	S	138	ENSP00000337854:P138S;ENSP00000332634:P138S	ENSP00000332634:P138S	P	+	1	0	HEXDC	77984952	0.000000	0.05858	0.058000	0.19502	0.145000	0.21501	-0.086000	0.11233	-0.097000	0.12307	0.563000	0.77884	CCA		0.627	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		48	266	0	0	0	1	0	48	266					T	80391663	C	T	80391663	3	4	79	1	0	0	0	0	1	0	0	0	7105	623	22	2	426	2	HEXDC	17	80391663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35497	80391663	803547	17868	28185											
HEXDC	284004	broad.mit.edu	37	chr17	80400400	80400400	+	3'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactcagttcctgagggcCctgggcagcccctgggggag	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80400400C>T	ENST00000327949.9	+	0	1612				HEXDC_ENST00000577944.1_Silent_p.A536A|HEXDC_ENST00000337014.6_Missense_Mutation_p.P564S			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCTGAGGGCCCTGGGCAGCC	0.597																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1690-1692)Cct>Tct		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							65	73	71					17																	80400400		1936	4141	6077	SO:0001624	3_prime_UTR_variant	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80400400C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*140C>T	17.37:g.80400400C>T						HEXDC_ENST00000577944.1_Silent_p.A536A|HEXDC_ENST00000327949.9_3'UTR	p.P564S	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		12	2164	+	Breast(20;0.00106)|all_neural(118;0.0804)		478					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1690C>T		.	.	.	.	.	.	.	.	.	.	C	15.03	2.710804	0.48517	.	.	ENSG00000169660	ENST00000337014	T	0.41400	1.0	3.34	-2.43	0.06522	.	1102.450000	0.00166	N	0.000000	T	0.29524	0.0736	.	.	.	0.09310	N	1	B	0.25169	0.119	B	0.19391	0.025	T	0.23904	-1.0175	9	0.87932	D	0	-0.0924	3.4568	0.07518	0.182:0.3669:0.0:0.4511	.	564	Q8WVB3-2	.	S	564	ENSP00000337854:P564S	ENSP00000337854:P564S	P	+	1	0	HEXDC	77993689	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.041000	0.13927	-0.467000	0.06932	-0.258000	0.10820	CCT		0.597	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		108	606	0	0	0	1	0	108	606					T	80400400	C	T	80400400	1	4	79	0	1	0	0	0	0	0	0	0	7105	623	22	2		2	HEXDC	17	80400400	3'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8737	80400400	794810	17869	28186											
C17orf62	79415	broad.mit.edu	37	chr17	80402326	80402326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcccacagccttacctgCggtggcccatgactgcactc	9	16	0	1	rs143814965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80402326C>T	ENST00000437807.2	-	7	757	c.440G>A	c.(439-441)cGc>cAc	p.R147H	C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	147						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)			GCCTTACCTGCGGTGGCCCAT	0.632																																						ENST00000437807.2																			0				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8						c.(439-441)cGc>cAc		chromosome 17 open reading frame 62		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	88	76	80		440,440,398,440,440,440,440	4.8	1	17	dbSNP_134	80	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense,missense,missense	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	29,29,29,29,29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	147/188,147/188,133/174,147/188,147/188,147/188,147/188	80402326	3,13003	2203	4300	6503	SO:0001583	missense	79415					integral to membrane	protein binding	g.chr17:80402326C>T	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.440G>A	17.37:g.80402326C>T	ENSP00000388909:p.Arg147His					C17orf62_ENST00000342572.8_Missense_Mutation_p.R23H|C17orf62_ENST00000577732.1_Missense_Mutation_p.R147H|C17orf62_ENST00000577436.1_Missense_Mutation_p.R133H|C17orf62_ENST00000585064.1_Missense_Mutation_p.R147H|C17orf62_ENST00000585080.1_Missense_Mutation_p.R147H|C17orf62_ENST00000306645.5_Missense_Mutation_p.R147H|C17orf62_ENST00000578919.1_Missense_Mutation_p.R147H|C17orf62_ENST00000578913.1_Missense_Mutation_p.R147H|C17orf62_ENST00000434650.2_Missense_Mutation_p.R133H|C17orf62_ENST00000583617.1_Missense_Mutation_p.R147H|C17orf62_ENST00000336995.7_5'UTR	p.R147H	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		7	757	-	Breast(20;0.00106)|all_neural(118;0.0804)		147					E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	c.440G>A	CCDS32776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.834230|3.834230	0.71373|0.71373	0.0|0.0	3.49E-4|3.49E-4	ENSG00000178927|ENSG00000178927	ENST00000342572|ENST00000536759;ENST00000437807;ENST00000306645;ENST00000434650	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|.	.|.	.|.	.|.	T|T	0.77525|0.77525	0.4143|0.4143	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.933;0.998	T|T	0.78548|0.78548	-0.2162|-0.2162	6|8	0.87932|0.48119	D|T	0|0.1	.|.	16.9278|16.9278	0.86181|0.86181	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;147	.|E1B6X3;Q9BQA9	.|.;CQ062_HUMAN	T|H	37|4;147;147;133	.|.	ENSP00000342228:A37T|ENSP00000307765:R147H	A|R	-|-	1|2	0|0	C17orf62|C17orf62	77995615|77995615	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.681000|0.681000	0.39784|0.39784	2.764000|2.764000	0.47613|0.47613	2.229000|2.229000	0.72834|0.72834	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.632	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1	NM_001033046		52	277	0	0	0	1	0	52	277					T	80402326	C	T	80402326	3	4	79	1	0	0	0	0	1	0	0	0	1876	768	27	1	131	1	C17orf62	17	80402326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1926	80402326	792884	17870	28187											
ZNF750	79755	broad.mit.edu	37	chr17	80788752	80788752	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgttcacaacattgaGgctagaagaagccaagaaaa	9	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	ENST00000269394.3	-	3	2271	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	ZNF750_ENST00000572562.1_Splice_Site_p.L81I|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	480					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)			ACAACATTGAGGCTAGAAGAA	0.572																																						ENST00000269394.3																			0				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						c.e3-1		zinc finger protein 750							27	32	30					17																	80788752		2130	4188	6318	SO:0001630	splice_region_variant	79755					intracellular	zinc ion binding	g.chr17:80788752G>T	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.1437-1C>A	17.37:g.80788752G>T						TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Splice_Site_p.L81_splice|TBCD_ENST00000355528.4_Intron	p.L480_splice	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2271	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	480					Q9H899	Splice_Site	SNP	ENST00000269394.3	37	c.1436_splice	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	5.398	0.258545	0.10239	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.14266	2.52	4.75	3.71	0.42584	.	0.226724	0.30528	N	0.009436	T	0.09512	0.0234	L	0.41079	1.255	0.28812	N	0.898152	B	0.26602	0.154	B	0.23716	0.048	T	0.09596	-1.0667	9	.	.	.	-20.9973	5.1242	0.14876	0.1122:0.0:0.5721:0.3158	.	480	Q32MQ0	ZN750_HUMAN	I	480;81	ENSP00000269394:L480I	.	L	-	1	0	ZNF750	78382041	1.000000	0.71417	0.969000	0.41365	0.262000	0.26303	1.466000	0.35310	2.197000	0.70478	0.655000	0.94253	CTC		0.572	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702	Missense_Mutation	79	280	1	0	6.01781e-45	1	7.37136e-45	79	280					T	80788752	G	T	80788752	5	4	79	1	0	0	0	0	0	0	1	0	18185	1014	35	3	737	3	ZNF750	17	80788752	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	386426	80788752	406458	17871	28188											
ZNF750	79755	broad.mit.edu	37	chr17	80790046	80790046	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcttcgagtcgaaggcagaGagtccatttgcgacagactt	12	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80790046G>T	ENST00000269394.3	-	2	1118	c.285C>A	c.(283-285)ctC>ctA	p.L95L	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	95					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)			CGAAGGCAGAGAGTCCATTTG	0.567																																						ENST00000269394.3																			0				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						c.(283-285)ctC>ctA		zinc finger protein 750							111	95	100					17																	80790046		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80790046G>T	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.285C>A	17.37:g.80790046G>T						TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	p.L95L	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1118	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	95					Q9H899	Silent	SNP	ENST00000269394.3	37	c.285C>A	CCDS11819.1																																																																																				0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		87	364	1	0	4.08182e-41	1	4.95533e-41	87	364					T	80790046	G	T	80790046	2	4	79	1	0	0	0	0	0	0	0	1	18185	929	33	3		3	ZNF750	17	80790046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1294	80790046	405164	17872	28189											
TBCD	6904	broad.mit.edu	37	chr17	80887372	80887372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggcggcttgacggagtCgacggtgaggaggcgtcggg	21	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80887372C>T	ENST00000355528.4	+	32	3117	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	996					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGACGGAGTCGACGGTGAGG	0.662																																						ENST00000355528.4																			0											c.(2986-2988)tCg>tTg		tubulin folding cofactor D							35	40	38					17																	80887372		2154	4255	6409	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80887372C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2987C>T	17.37:g.80887372C>T	ENSP00000347719:p.Ser996Leu					TBCD_ENST00000539345.2_Missense_Mutation_p.S996L	p.S996L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		32	3117	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	996					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2987C>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974366	0.74246	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.37411	1.2	4.67	4.67	0.58626	Armadillo-type fold (1);Tubulin-specific chaperone D, C-terminal (1);	0.314127	0.31061	N	0.008326	T	0.59307	0.2184	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	P;P;P	0.61070	0.814;0.883;0.876	T	0.65569	-0.6136	9	.	.	.	.	15.0761	0.72077	0.0:1.0:0.0:0.0	.	747;996;996	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	L	996;747	ENSP00000347719:S996L	.	S	+	2	0	TBCD	78480661	1.000000	0.71417	0.907000	0.35723	0.156000	0.22039	6.924000	0.75823	2.127000	0.65507	0.561000	0.74099	TCG		0.662	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		17	147	0	0	0	1	0	17	147					T	80887372	C	T	80887372	3	4	79	1	0	0	0	0	1	0	0	0	15685	893	31	1	3113	1	TBCD	17	80887372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	97326	80887372	307838	17873	28190											
USP14	9097	broad.mit.edu	37	chr18	163369	163369	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatacagatgaacctccAatggtattcaaggctcagct	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	ENST00000261601.7	+	2	169	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	26	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				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)				ATGAACCTCCAATGGTATTCA	0.373																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.(76-78)ccA>ccG		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							68	68	68					18																	163369		2203	4300	6503	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:163369A>G	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.78A>G	18.37:g.163369A>G						USP14_ENST00000400266.3_Silent_p.P26P|USP14_ENST00000383589.2_Silent_p.P26P|USP14_ENST00000582707.1_Silent_p.P26P	p.P26P	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			2	169	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	26			Ubiquitin-like.		J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.78A>G	CCDS32780.1																																																																																				0.373	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		49	181	0	0	0	1	0	49	181					G	163369	A	G	163369	2	3	79	1	0	0	0	0	0	0	0	1	17099	117	5	4		4	USP14	18	163369	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08		163369	77913879	17874	28191											
USP14	9097	broad.mit.edu	37	chr18	197615	197615	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctttttttacattacaGgatgctaatgaatgttggat	8	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	ENST00000261601.7	+	8	685		c.e8-1		USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000582707.1_Splice_Site	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						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)				TTACATTACAGGATGCTAATG	0.338																																						ENST00000261601.6																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11						c.e8-1		ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)							118	122	120					18																	197615		2203	4299	6502	SO:0001630	splice_region_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:197615G>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.595-1G>T	18.37:g.197615G>T						USP14_ENST00000400266.3_Splice_Site|USP14_ENST00000383589.2_Splice_Site|USP14_ENST00000582707.1_Splice_Site		NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN			8	685	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)						J3QRZ5|Q53XY5	Splice_Site	SNP	ENST00000261601.7	37		CCDS32780.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475467	0.63737	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP14	187615	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	9.262000	0.95591	2.695000	0.91970	0.650000	0.86243	.		0.338	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151	Intron	34	208	1	0	1.836e-18	1	2.03801e-18	34	208					T	197615	G	T	197615	5	4	79	1	0	0	0	0	0	0	1	0	17099	1014	35	3	624	3	USP14	18	197615	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34246	197615	77879633	17875	28192											
THOC1	9984	broad.mit.edu	37	chr18	265360	265360	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggtacattttttttcattTtcactattaaaaacaaaaga	4	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265360T>G	ENST00000261600.6	-	3	139	c.132A>C	c.(130-132)gaA>gaC	p.E44D	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	44					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTTTTTCATTTTCACTATTAA	0.299																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(130-132)gaA>gaC		THO complex 1							53	50	51					18																	265360		1799	4065	5864	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:265360T>G	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.132A>C	18.37:g.265360T>G	ENSP00000261600:p.Glu44Asp					THOC1_ENST00000582313.1_5'UTR	p.E44D	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			3	139	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	44					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.132A>C	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086039	0.36855	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.27053	0.805	0.50039	D	0.999844	B;B	0.32467	0.285;0.372	B;B	0.30943	0.122;0.108	T	0.36504	-0.9745	9	0.14252	T	0.57	-17.3277	16.2861	0.82722	0.0:0.0:0.0:1.0	.	44;44	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	44	.	ENSP00000261600:E44D	E	-	3	2	THOC1	255360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.961000	0.56759	2.322000	0.78497	0.528000	0.53228	GAA		0.299	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		16	64	0	0	0	1	0	16	64					G	265360	T	G	265360	3	3	79	1	0	0	0	0	1	0	0	0	15916	1838	64	4	1917	4	THOC1	18	265360	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	67745	265360	77811888	17876	28193											
THOC1	9984	broad.mit.edu	37	chr18	265516	265516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtttttgttgttcaaggcCtctctggtagacttctaaaa	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:265516C>A	ENST00000261600.6	-	2	76	c.69G>T	c.(67-69)gaG>gaT	p.E23D	RP11-705O1.8_ENST00000581677.1_lincRNA|THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	23					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGTTCAAGGCCTCTCTGGTAG	0.323																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(67-69)gaG>gaT		THO complex 1							70	65	66					18																	265516		1823	4069	5892	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:265516C>A	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.69G>T	18.37:g.265516C>A	ENSP00000261600:p.Glu23Asp					THOC1_ENST00000582313.1_5'UTR	p.E23D	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			2	76	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	23					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.69G>T	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864297	0.32977	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.06	0.254	0.15557	.	0.208574	0.49916	D	0.000131	T	0.19446	0.0467	N	0.08118	0	0.35667	D	0.813024	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.04029	-1.0983	9	0.33940	T	0.23	-15.4522	1.6694	0.02808	0.1147:0.2986:0.199:0.3877	.	23;23	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	D	23	.	ENSP00000261600:E23D	E	-	3	2	THOC1	255516	0.439000	0.25610	1.000000	0.80357	0.999000	0.98932	-0.300000	0.08243	0.372000	0.24591	0.650000	0.86243	GAG		0.323	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		4	39	1	0	0.00909568	1	0.00914726	4	39					A	265516	C	A	265516	3	1	79	1	0	0	0	0	1	0	0	0	15916	680	24	3	1984	3	THOC1	18	265516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156	265516	77811732	17877	28194											
COLEC12	81035	broad.mit.edu	37	chr18	335154	335154	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctcccccttctctcctttCtgtcccttgttgccagttgg	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335154C>A	ENST00000400256.3	-	6	1611	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	468	Collagen-like 1.				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)				TCTCTCCTTTCTGTCCCTTGT	0.617																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1402-1404)caG>caT		collectin sub-family member 12							34	36	35					18																	335154		2192	4292	6484	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335154C>A	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.1404G>T	18.37:g.335154C>A	ENSP00000383115:p.Gln468His						p.Q468H	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1611	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	468			Collagen-like 1.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1404G>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175481	0.38413	.	.	ENSG00000158270	ENST00000400256	D	0.86164	-2.08	5.66	3.86	0.44501	.	0.100946	0.64402	D	0.000002	D	0.83797	0.5332	N	0.22421	0.69	0.40914	D	0.984257	D	0.56746	0.977	P	0.59288	0.855	T	0.82448	-0.0452	10	0.46703	T	0.11	-14.5309	4.8189	0.13381	0.1542:0.5913:0.0:0.2545	.	468	Q5KU26	COL12_HUMAN	H	468	ENSP00000383115:Q468H	ENSP00000383115:Q468H	Q	-	3	2	COLEC12	325154	0.277000	0.24220	1.000000	0.80357	0.992000	0.81027	-0.319000	0.08039	1.376000	0.46267	0.655000	0.94253	CAG		0.617	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			65	290	1	0	2.6711e-34	1	3.17551e-34	65	290					A	335154	C	A	335154	3	1	79	1	0	0	0	0	1	0	0	0	3721	912	32	3	844	3	COLEC12	18	335154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69638	335154	77742094	17878	28195											
COLEC12	81035	broad.mit.edu	37	chr18	335176	335176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcccttgttgccagttgggCcagggggtccctgggatcct	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335176C>T	ENST00000400256.3	-	6	1589	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	461	Collagen-like 1.				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)				GCCAGTTGGGCCAGGGGGTCC	0.592																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1381-1383)gGc>gAc		collectin sub-family member 12							35	39	38					18																	335176		2197	4291	6488	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335176C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1382G>A	18.37:g.335176C>T	ENSP00000383115:p.Gly461Asp						p.G461D	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1589	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	461			Collagen-like 1.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1382G>A	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695493	0.48202	.	.	ENSG00000158270	ENST00000400256	D	0.99532	-6.1	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97114	0.9806	10	0.87932	D	0	-14.1091	19.543	0.95281	0.0:1.0:0.0:0.0	.	461	Q5KU26	COL12_HUMAN	D	461	ENSP00000383115:G461D	ENSP00000383115:G461D	G	-	2	0	COLEC12	325176	1.000000	0.71417	0.795000	0.32087	0.473000	0.32948	7.764000	0.85297	2.601000	0.87937	0.591000	0.81541	GGC		0.592	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			62	303	0	0	0	1	0	62	303					T	335176	C	T	335176	3	4	79	1	0	0	0	0	1	0	0	0	3721	739	26	2	866	2	COLEC12	18	335176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22	335176	77742072	17879	28196											
COLEC12	81035	broad.mit.edu	37	chr18	480749	480749	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcacctcctcctcctctgCgaagtcgtctgtgagagaag	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:480749C>T	ENST00000400256.3	-	2	223	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	6					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)				TCCTCCTCTGCGAAGTCGTCT	0.552																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(16-18)Gca>Aca		collectin sub-family member 12							181	121	141					18																	480749		2203	4300	6503	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:480749C>T	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.16G>A	18.37:g.480749C>T	ENSP00000383115:p.Ala6Thr						p.A6T	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			2	223	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	6					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.16G>A	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984474	0.53934	.	.	ENSG00000158270	ENST00000400256	D	0.89196	-2.48	5.77	4.89	0.63831	.	0.336780	0.30547	N	0.009382	D	0.89550	0.6747	L	0.27053	0.805	0.40126	D	0.976664	D	0.76494	0.999	D	0.68621	0.959	D	0.89636	0.3859	10	0.44086	T	0.13	-8.4186	12.7129	0.57100	0.0:0.8346:0.1654:0.0	.	6	Q5KU26	COL12_HUMAN	T	6	ENSP00000383115:A6T	ENSP00000383115:A6T	A	-	1	0	COLEC12	470749	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	2.657000	0.46724	1.409000	0.46915	0.650000	0.86243	GCA		0.552	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			67	264	0	0	0	1	0	67	264					T	480749	C	T	480749	3	4	79	1	0	0	0	0	1	0	0	0	3721	768	27	1	2248	1	COLEC12	18	480749	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145573	480749	77596499	17880	28197											
CETN1	1068	broad.mit.edu	37	chr18	580753	580753	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcaggctctttgatgaCgatgagaccgggaagatctc	12	10	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:580753C>T	ENST00000327228.3	+	1	387	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	115	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						TCTTTGATGACGATGAGACCG	0.527																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(343-345)gaC>gaT		centrin, EF-hand protein, 1							79	84	82					18																	580753		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580753C>T	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.345C>T	18.37:g.580753C>T							p.D115D	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	387	+			115			EF-hand 3.		B2R536	Silent	SNP	ENST00000327228.3	37	c.345C>T	CCDS11820.1																																																																																				0.527	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		53	344	0	0	0	1	0	53	344					T	580753	C	T	580753	2	4	79	1	0	0	0	0	0	0	0	1	3283	535	19	1		1	CETN1	18	580753	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100004	580753	77496495	17881	28198											
TYMS	7298	broad.mit.edu	37	chr18	670816	670816	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcggtgtgcctttcaacatCgccagctacgccctgctcac	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:670816C>T	ENST00000323274.10	+	5	820	c.681C>T	c.(679-681)atC>atT	p.I227I	TYMS_ENST00000323250.5_Silent_p.I144I|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.I193I	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	227					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)	p.I227I(1)		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)	CTTTCAACATCGCCAGCTACG	0.587																																						ENST00000323274.10																			1	Substitution - coding silent(1)	p.I227I(1)	endometrium(1)	endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(679-681)atC>atT		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						165	128	140					18																	670816		2203	4300	6503	SO:0001819	synonymous_variant	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:670816C>T	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.681C>T	18.37:g.670816C>T						TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.I193I|TYMS_ENST00000323250.5_Silent_p.I144I	p.I227I	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			5	820	+			227					Q8WYK3|Q8WYK4	Silent	SNP	ENST00000323274.10	37	c.681C>T	CCDS11821.1																																																																																				0.587	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		94	460	0	0	0	1	0	94	460					T	670816	C	T	670816	2	4	79	1	0	0	0	0	0	0	0	1	16866	874	31	1		1	TYMS	18	670816	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90063	670816	77406432	17882	28199											
TYMS	7298	broad.mit.edu	37	chr18	672975	672975	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatccgcatccaactaTtaaaatggaaatggctgttt	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:672975T>G	ENST00000323274.10	+	7	1059	c.920T>G	c.(919-921)aTt>aGt	p.I307S	TYMS_ENST00000323250.5_Missense_Mutation_p.I224S|TYMS_ENST00000581920.1_3'UTR|ENOSF1_ENST00000383578.3_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|ENOSF1_ENST00000583973.1_5'Flank|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	307					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)	CATCCAACTATTAAAATGGAA	0.418																																						ENST00000323274.10																			0				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8						c.(919-921)aTt>aGt		thymidylate synthetase	Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)						94	98	96					18																	672975		2203	4300	6503	SO:0001583	missense	7298				DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	g.chr18:672975T>G	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.920T>G	18.37:g.672975T>G	ENSP00000315644:p.Ile307Ser					TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.I273S|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.I224S|ENOSF1_ENST00000383578.3_3'UTR	p.I307S	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN			7	1059	+			307					Q8WYK3|Q8WYK4	Missense_Mutation	SNP	ENST00000323274.10	37	c.920T>G	CCDS11821.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986971	0.74589	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	5.9	5.9	0.94986	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.044615	0.85682	D	0.000000	D	0.91402	0.7287	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.81914	0.995;0.979;0.994	D	0.95074	0.8207	9	0.87932	D	0	-14.2036	16.3101	0.82865	0.0:0.0:0.0:1.0	.	224;273;307	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	S	307;273;224	.	ENSP00000314727:I273S	I	+	2	0	TYMS	662975	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.758000	0.85224	2.247000	0.74100	0.528000	0.53228	ATT		0.418	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254316.1	NM_001071		110	592	0	0	0	1	0	110	592					G	672975	T	G	672975	3	3	79	1	0	0	0	0	1	0	0	0	16866	1493	52	4	946	4	TYMS	18	672975	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2159	672975	77404273	17883	28200											
ENOSF1	55556	broad.mit.edu	37	chr18	706481	706481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaactcaccaacttcagtgCcttttcccagagtgaaggta	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:706481C>T	ENST00000251101.7	-	2	270	c.182G>A	c.(181-183)gGc>gAc	p.G61D	RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A18T|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	61					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AACTTCAGTGCCTTTTCCCAG	0.418																																						ENST00000383578.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						c.(52-54)Gca>Aca		enolase superfamily member 1							146	122	130					18																	706481		2203	4300	6503	SO:0001583	missense	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:706481C>T	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.182G>A	18.37:g.706481C>T	ENSP00000251101:p.Gly61Asp					ENOSF1_ENST00000580982.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000251101.7_Missense_Mutation_p.G61D|ENOSF1_ENST00000539164.1_Missense_Mutation_p.G61D|ENOSF1_ENST00000340116.7_Missense_Mutation_p.G82D	p.A18T	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN			2	256	-			0					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Missense_Mutation	SNP	ENST00000251101.7	37	c.52G>A	CCDS11822.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.120108|2.120108	0.37436|0.37436	.|.	.|.	ENSG00000132199|ENSG00000132199	ENST00000383578|ENST00000251101;ENST00000340116;ENST00000539164	T|T;T;T	0.30182|0.46063	1.54|0.88;0.88;0.88	5.56|5.56	4.69|4.69	0.59074|0.59074	.|Mandelate racemase/muconate lactonizing enzyme, N-terminal (1);	.|0.049387	.|0.85682	.|N	.|0.000000	T|T	0.64000|0.64000	0.2559|0.2559	.|.	.|.	.|.	0.43708|0.43708	D|D	0.996177|0.996177	B|D;D;D	0.14805|0.76494	0.011|0.999;0.997;0.998	B|D;D;D	0.11329|0.72338	0.006|0.977;0.962;0.957	T|T	0.68800|0.68800	-0.5313|-0.5313	8|9	0.62326|0.87932	D|D	0.03|0	.|.	12.9562|12.9562	0.58430|0.58430	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	18|82;106;61	Q7L5Y1-2|A6NMP3;Q6ZS08;Q7L5Y1	.|.;.;ENOF1_HUMAN	T|D	18|61;82;61	ENSP00000373072:A18T|ENSP00000251101:G61D;ENSP00000345974:G82D;ENSP00000446321:G61D	ENSP00000373072:A18T|ENSP00000251101:G61D	A|G	-|-	1|2	0|0	ENOSF1|ENOSF1	696481|696481	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	4.071000|4.071000	0.57556|0.57556	1.344000|1.344000	0.45657|0.45657	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.418	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		80	395	0	0	0	1	0	80	395					T	706481	C	T	706481	3	4	79	1	0	0	0	0	1	0	0	0	5143	739	26	2	1209	2	ENOSF1	18	706481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33506	706481	77370767	17884	28201											
YES1	7525	broad.mit.edu	37	chr18	756664	756664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtgtcatggaaagactgCtgaaattaactgctgttccc	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:756664C>A	ENST00000584307.1	-	2	334	c.164G>T	c.(163-165)aGc>aTc	p.S55I	YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Missense_Mutation_p.S60I|YES1_ENST00000314574.4_Missense_Mutation_p.S55I			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	55					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)	GGAAAGACTGCTGAAATTAAC	0.488																																						ENST00000584307.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(163-165)aGc>aTc		v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	Dasatinib(DB01254)						251	208	223					18																	756664		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:756664C>A	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.164G>T	18.37:g.756664C>A	ENSP00000462468:p.Ser55Ile					YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S55I|YES1_ENST00000577961.1_Missense_Mutation_p.S60I	p.S55I			P07947	YES_HUMAN			2	334	-			55					A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.164G>T	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567998	0.28003	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.74947	-0.89	4.91	-2.04	0.07343	.	0.513334	0.22949	N	0.053687	T	0.48040	0.1478	N	0.08118	0	0.24759	N	0.992936	B	0.19445	0.036	B	0.14023	0.01	T	0.41484	-0.9506	10	0.59425	D	0.04	.	7.5341	0.27700	0.0:0.1655:0.1453:0.6892	.	55	P07947	YES_HUMAN	I	55	ENSP00000324740:S55I	ENSP00000324740:S55I	S	-	2	0	YES1	746664	0.994000	0.37717	0.590000	0.28732	0.972000	0.66771	0.469000	0.22067	-0.087000	0.12528	0.561000	0.74099	AGC		0.488	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		133	643	1	0	2.82259e-58	1	3.53906e-58	133	643					A	756664	C	A	756664	3	1	79	1	0	0	0	0	1	0	0	0	17528	797	28	3	1511	3	YES1	18	756664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50183	756664	77320584	17885	28202											
SMCHD1	23347	broad.mit.edu	37	chr18	2707808	2707808	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatttttgactcataggtgCgttaagaattgaaatactga	8	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2707808C>T	ENST00000320876.6	+	17	2488	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	717					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTCATAGGTGCGTTAAGAATT	0.363																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2149-2151)gCg>gTg		structural maintenance of chromosomes flexible hinge domain containing 1							31	32	32					18																	2707808		1803	4063	5866	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2707808C>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2150C>T	18.37:g.2707808C>T	ENSP00000326603:p.Ala717Val					SMCHD1_ENST00000261598.8_Missense_Mutation_p.A717V|RP11-703M24.5_ENST00000583546.1_RNA	p.A717V	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			17	2488	+			717					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2150C>T	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018495	0.35606	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.26	5.26	0.73747	.	0.071383	0.56097	D	0.000036	T	0.24160	0.0585	N	0.24115	0.695	0.34705	D	0.727147	D	0.63046	0.992	P	0.45712	0.491	T	0.13818	-1.0495	10	0.35671	T	0.21	-15.1304	19.2255	0.93816	0.0:1.0:0.0:0.0	.	717	A6NHR9	SMHD1_HUMAN	V	717	ENSP00000326603:A717V;ENSP00000261598:A717V	ENSP00000261598:A717V	A	+	2	0	SMCHD1	2697808	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.910000	0.69931	2.589000	0.87451	0.563000	0.77884	GCG		0.363	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			13	54	0	0	0	1	0	13	54					T	2707808	C	T	2707808	3	4	79	1	0	0	0	0	1	0	0	0	14838	768	27	1	2216	1	SMCHD1	18	2707808	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1951144	2707808	75369440	17886	28203											
EMILIN2	84034	broad.mit.edu	37	chr18	2890564	2890564	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttatctttgtaacagataatGaacccagccaattctcagag	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2890564G>A	ENST00000254528.3	+	4	598	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	147					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)		AACAGATAATGAACCCAGCCA	0.433																																						ENST00000254528.3																			0				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						c.(439-441)Gaa>Aaa		elastin microfibril interfacer 2							42	44	43					18																	2890564		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2890564G>A	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.439G>A	18.37:g.2890564G>A	ENSP00000254528:p.Glu147Lys						p.E147K	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	598	+			147					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.439G>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534511	0.27475	.	.	ENSG00000132205	ENST00000254528	T	0.35236	1.32	5.44	5.44	0.79542	.	0.759946	0.12001	N	0.508783	T	0.33818	0.0876	L	0.54323	1.7	0.32662	N	0.51795	B	0.21147	0.052	B	0.21917	0.037	T	0.36962	-0.9726	10	0.06494	T	0.89	-11.8618	14.7602	0.69600	0.0:0.0:1.0:0.0	.	147	Q9BXX0	EMIL2_HUMAN	K	147	ENSP00000254528:E147K	ENSP00000254528:E147K	E	+	1	0	EMILIN2	2880564	1.000000	0.71417	0.994000	0.49952	0.234000	0.25298	4.484000	0.60271	2.555000	0.86185	0.557000	0.71058	GAA		0.433	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		38	247	0	0	0	1	0	38	247					A	2890564	G	A	2890564	3	1	79	1	0	0	0	0	1	0	0	0	5112	1291	45	2	453	2	EMILIN2	18	2890564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182756	2890564	75186684	17887	28204											
LPIN2	9663	broad.mit.edu	37	chr18	2920375	2920375	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccgggcagggaaaagcggaAttctgctccttactgagaag	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2920375A>G	ENST00000261596.4	-	20	2845	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	869					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAAAAGCGGAATTCTGCTCCT	0.557																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(2605-2607)aaT>aaC		lipin 2							57	51	53					18																	2920375		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2920375A>G	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2607T>C	18.37:g.2920375A>G							p.N869N	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	20	2845	-			869					A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.2607T>C	CCDS11829.1																																																																																				0.557	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		15	235	0	0	0	1	0	15	235					G	2920375	A	G	2920375	2	3	79	1	0	0	0	0	0	0	0	1	8957	98	4	4		4	LPIN2	18	2920375	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29811	2920375	75156873	17888	28205											
LPIN2	9663	broad.mit.edu	37	chr18	2937906	2937906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatggtacagacagtgtcttCcatggaagcatccttctcaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2937906C>T	ENST00000261596.4	-	7	1190	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	318					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACAGTGTCTTCCATGGAAGCA	0.483																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(952-954)Gaa>Aaa		lipin 2							173	155	161					18																	2937906		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2937906C>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.952G>A	18.37:g.2937906C>T	ENSP00000261596:p.Glu318Lys						p.E318K	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	7	1190	-			318					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.952G>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008567	0.07727	.	.	ENSG00000101577	ENST00000261596	T	0.80214	-1.35	5.96	5.96	0.96718	.	1.088990	0.06752	N	0.780147	T	0.66954	0.2842	N	0.16656	0.425	0.29070	N	0.883339	B	0.02656	0.0	B	0.01281	0.0	T	0.54774	-0.8243	10	0.09590	T	0.72	.	9.2797	0.37720	0.0:0.8811:0.0:0.1189	.	318	Q92539	LPIN2_HUMAN	K	318	ENSP00000261596:E318K	ENSP00000261596:E318K	E	-	1	0	LPIN2	2927906	0.662000	0.27439	0.713000	0.30519	0.973000	0.67179	2.963000	0.49184	2.832000	0.97577	0.655000	0.94253	GAA		0.483	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		127	416	0	0	0	1	0	127	416					T	2937906	C	T	2937906	3	4	79	1	0	0	0	0	1	0	0	0	8957	864	30	2	1794	2	LPIN2	18	2937906	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17531	2937906	75139342	17889	28206											
MYOM1	8736	broad.mit.edu	37	chr18	3154969	3154969	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caataaaatatccgagaataGgactccctccatcgacagct	6	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3154969G>T	ENST00000356443.4	-	11	1952	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MYOM1_ENST00000400569.3_Missense_Mutation_p.P540H|MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	540	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCGAGAATAGGACTCCCTCC	0.438																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1618-1620)cCt>cAt		myomesin 1							65	65	65					18																	3154969		1902	4122	6024	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3154969G>T	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.1619C>A	18.37:g.3154969G>T	ENSP00000348821:p.Pro540His					MYOM1_ENST00000261606.7_Missense_Mutation_p.P540H|MYOM1_ENST00000356443.4_Missense_Mutation_p.P540H	p.P540H			P52179	MYOM1_HUMAN			11	1952	-			540			Fibronectin type-III 1.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1619C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903612	0.72754	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.59772	0.24;0.24;0.24	5.01	5.01	0.66863	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.259830	0.40908	D	0.000984	T	0.79782	0.4505	M	0.87827	2.91	0.40009	D	0.975262	D;D	0.76494	0.997;0.999	D;D	0.74674	0.951;0.984	D	0.84151	0.0423	10	0.87932	D	0	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	540;540	P52179-2;P52179	.;MYOM1_HUMAN	H	540	ENSP00000348821:P540H;ENSP00000383413:P540H;ENSP00000261606:P540H	ENSP00000261606:P540H	P	-	2	0	MYOM1	3144969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.670000	0.54569	2.592000	0.87571	0.655000	0.94253	CCT		0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		21	79	1	0	3.51602e-12	1	3.76992e-12	21	79					T	3154969	G	T	3154969	3	4	79	1	0	0	0	0	1	0	0	0	10132	1000	35	3	3550	3	MYOM1	18	3154969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217063	3154969	74922279	17890	28207											
MYOM1	8736	broad.mit.edu	37	chr18	3173962	3173962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggcatggtggaagccccaGcgtggaagcgagtctcatca	16	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3173962G>T	ENST00000356443.4	-	8	1481	c.1148C>A	c.(1147-1149)gCt>gAt	p.A383D	MYOM1_ENST00000400569.3_Missense_Mutation_p.A383D|MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	383					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						GGAAGCCCCAGCGTGGAAGCG	0.408																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1147-1149)gCt>gAt		myomesin 1							80	77	78					18																	3173962		1865	4105	5970	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3173962G>T	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.1148C>A	18.37:g.3173962G>T	ENSP00000348821:p.Ala383Asp					MYOM1_ENST00000261606.7_Missense_Mutation_p.A383D|MYOM1_ENST00000356443.4_Missense_Mutation_p.A383D	p.A383D			P52179	MYOM1_HUMAN			8	1481	-			383					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1148C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117782	0.20877	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.9;0.91;0.77	5.97	3.07	0.35406	.	0.740364	0.13140	N	0.410730	T	0.28566	0.0707	N	0.08118	0	0.20489	N	0.999899	B;B	0.25772	0.127;0.134	B;B	0.29942	0.109;0.051	T	0.22871	-1.0204	10	0.15952	T	0.53	.	12.3769	0.55285	0.0:0.2439:0.6345:0.1216	.	383;383	P52179-2;P52179	.;MYOM1_HUMAN	D	383	ENSP00000348821:A383D;ENSP00000383413:A383D;ENSP00000261606:A383D	ENSP00000261606:A383D	A	-	2	0	MYOM1	3163962	0.931000	0.31567	0.010000	0.14722	0.534000	0.34807	2.833000	0.48159	0.349000	0.23975	0.655000	0.94253	GCT		0.408	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		35	194	1	0	1.96642e-18	1	2.182e-18	35	194					T	3173962	G	T	3173962	3	4	79	1	0	0	0	0	1	0	0	0	10132	971	34	3	4033	3	MYOM1	18	3173962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18993	3173962	74903286	17891	28208											
MYOM1	8736	broad.mit.edu	37	chr18	3193949	3193949	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atctaacagcagactggaatCtgtaagtctgaaataaacca	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3193949C>T	ENST00000356443.4	-	3	631	c.298G>A	c.(298-300)Gat>Aat	p.D100N	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.D100N|MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	100					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						AGACTGGAATCTGTAAGTCTG	0.373																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(298-300)Gat>Aat		myomesin 1							88	80	82					18																	3193949		1859	4111	5970	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3193949C>T	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.298G>A	18.37:g.3193949C>T	ENSP00000348821:p.Asp100Asn					MYOM1_ENST00000261606.7_Missense_Mutation_p.D100N|MYOM1_ENST00000356443.4_Missense_Mutation_p.D100N|RP13-270P17.2_ENST00000580139.1_RNA	p.D100N			P52179	MYOM1_HUMAN			3	631	-			100					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.298G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643507	0.14451	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.51071	0.89;0.89;0.72	5.92	5.92	0.95590	.	0.141721	0.48767	D	0.000177	T	0.32194	0.0821	N	0.24115	0.695	0.33841	D	0.631436	B;B	0.13145	0.003;0.007	B;B	0.11329	0.006;0.005	T	0.36768	-0.9734	10	0.36615	T	0.2	.	8.856	0.35227	0.2551:0.6748:0.0:0.0701	.	100;100	P52179-2;P52179	.;MYOM1_HUMAN	N	100	ENSP00000348821:D100N;ENSP00000383413:D100N;ENSP00000261606:D100N	ENSP00000261606:D100N	D	-	1	0	MYOM1	3183949	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.017000	0.40981	2.795000	0.96236	0.655000	0.94253	GAT		0.373	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	131	0	0	0	1	0	5	131					T	3193949	C	T	3193949	3	4	79	1	0	0	0	0	1	0	0	0	10132	913	32	2	4903	2	MYOM1	18	3193949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19987	3193949	74883299	17892	28209											
DLGAP1	9229	broad.mit.edu	37	chr18	3581920	3581920	+	Missense_Mutation	SNP	T	T	C													tttcttaaagtggtccttctTcctgtcctccgtggtgacgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581920T>C	ENST00000315677.3	-	8	2513	c.1918A>G	c.(1918-1920)Aag>Gag	p.K640E	DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	640					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)				TGGTCCTTCTTCCTGTCCTCC	0.488																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(1918-1920)Aag>Gag		discs, large (Drosophila) homolog-associated protein 1							133	113	120					18																	3581920		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3581920T>C	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.1918A>G	18.37:g.3581920T>C	ENSP00000316377:p.Lys640Glu					DLGAP1_ENST00000400155.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000581527.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000400149.3_Missense_Mutation_p.K330E|DLGAP1_ENST00000400145.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000400147.2_Missense_Mutation_p.K338E|DLGAP1_ENST00000581699.1_Missense_Mutation_p.K346E|DLGAP1_ENST00000584874.1_Missense_Mutation_p.K640E|DLGAP1_ENST00000515196.2_Missense_Mutation_p.K640E|DLGAP1_ENST00000534970.1_Missense_Mutation_p.K324E|DLGAP1_ENST00000539435.1_Missense_Mutation_p.K348E|DLGAP1_ENST00000400150.3_Missense_Mutation_p.K356E	p.K640E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			8	2513	-		Colorectal(8;0.0257)	640					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1918A>G	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307918	0.40895	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.41	5.41	0.78517	.	0.058235	0.64402	D	0.000002	T	0.16514	0.0397	L	0.31926	0.97	0.49483	D	0.999799	P;B;B;P;B;P;B;B	0.43231	0.801;0.166;0.005;0.684;0.242;0.763;0.242;0.203	B;B;B;B;B;B;B;B	0.40825	0.341;0.138;0.026;0.341;0.232;0.23;0.232;0.098	T	0.01626	-1.1309	10	0.46703	T	0.11	-29.3278	15.4516	0.75277	0.0:0.0:0.0:1.0	.	640;324;336;346;348;338;640;338	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	E	640;338;356;330;346;324;348;338;640	ENSP00000316377:K640E;ENSP00000383011:K338E;ENSP00000383014:K356E;ENSP00000383013:K330E;ENSP00000383019:K346E;ENSP00000437817:K324E;ENSP00000446312:K348E;ENSP00000383010:K338E;ENSP00000445973:K640E	ENSP00000316377:K640E	K	-	1	0	DLGAP1	3571920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.900000	0.69853	2.038000	0.60285	0.460000	0.39030	AAG		0.488	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			12	557	0	0	0	1	0	12	557					C	3581920	T	C	3581920	3	2	79	1	0	0	0	0	1	0	0	0	4575	1792	62	4	1039	4	DLGAP1	18	3581920	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	387971	3581920	74495328	17893	28210	180	2									
DLGAP1	9229	broad.mit.edu	37	chr18	3581922	3581922	+	Missense_Mutation	SNP	C	C	A													tcttaaagtggtccttcttcCtgtcctccgtggtgacggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581922C>A	ENST00000315677.3	-	8	2511	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M	DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	639					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)				GTCCTTCTTCCTGTCCTCCgt	0.493																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(1915-1917)aGg>aTg		discs, large (Drosophila) homolog-associated protein 1							133	113	120					18																	3581922		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3581922C>A	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.1916G>T	18.37:g.3581922C>A	ENSP00000316377:p.Arg639Met					DLGAP1_ENST00000400155.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R329M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R337M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R345M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R639M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R639M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R323M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R347M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R355M	p.R639M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			8	2511	-		Colorectal(8;0.0257)	639					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.1916G>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992460	0.35131	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.12255	2.71;2.71;2.7;2.71;2.7;2.71;2.71;2.7;2.71	5.41	5.41	0.78517	.	0.275715	0.41712	D	0.000840	T	0.24005	0.0581	L	0.34521	1.04	0.41063	D	0.985393	P;P;P;P;P;P;P;P	0.49696	0.882;0.927;0.923;0.882;0.923;0.856;0.923;0.905	P;P;P;P;P;B;P;P	0.56343	0.477;0.579;0.722;0.477;0.796;0.346;0.796;0.693	T	0.00662	-1.1621	10	0.34782	T	0.22	-26.0939	19.2071	0.93736	0.0:1.0:0.0:0.0	.	639;323;335;345;347;337;639;337	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	M	639;337;355;329;345;323;347;337;639	ENSP00000316377:R639M;ENSP00000383011:R337M;ENSP00000383014:R355M;ENSP00000383013:R329M;ENSP00000383019:R345M;ENSP00000437817:R323M;ENSP00000446312:R347M;ENSP00000383010:R337M;ENSP00000445973:R639M	ENSP00000316377:R639M	R	-	2	0	DLGAP1	3571922	0.987000	0.35691	1.000000	0.80357	0.969000	0.65631	1.747000	0.38298	2.520000	0.84964	0.563000	0.77884	AGG		0.493	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			114	456	1	0	1.54984e-59	1	1.94674e-59	114	456					A	3581922	C	A	3581922	3	1	79	1	0	0	0	0	1	0	0	0	4575	681	24	3	1041	3	DLGAP1	18	3581922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	3581922	74495326	17894	28211	180	2									
DLGAP1	9229	broad.mit.edu	37	chr18	3814267	3814267	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccctgtccattcatcttGtggaacctattcagatagaa	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3814267G>A	ENST00000315677.3	-	5	1559	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|snoU13_ENST00000459060.1_RNA|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	322					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)				CATTCATCTTGTGGAACCTAT	0.353																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(964-966)Caa>Taa		discs, large (Drosophila) homolog-associated protein 1							93	90	91					18																	3814267		2203	4300	6503	SO:0001587	stop_gained	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3814267G>A	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.964C>T	18.37:g.3814267G>A	ENSP00000316377:p.Gln322*					DLGAP1_ENST00000400155.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000400149.3_Nonsense_Mutation_p.Q30*|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000400145.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400147.2_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000581699.1_Nonsense_Mutation_p.Q28*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q322*|DLGAP1_ENST00000534970.1_Nonsense_Mutation_p.Q34*|DLGAP1_ENST00000539435.1_Nonsense_Mutation_p.Q20*|DLGAP1_ENST00000400150.3_Nonsense_Mutation_p.Q28*	p.Q322*	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			5	1559	-		Colorectal(8;0.0257)	322					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Nonsense_Mutation	SNP	ENST00000315677.3	37	c.964C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	36	5.900017	0.97081	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.5534	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	322;20;28;30;28;34;20;20;322	.	ENSP00000316377:Q322X	Q	-	1	0	DLGAP1	3804267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.749000	0.85096	2.832000	0.97577	0.655000	0.94253	CAA		0.353	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			90	439	0	0	0	1	0	90	439					A	3814267	G	A	3814267	4	1	79	1	0	0	0	0	0	1	0	0	4575	1386	48	2	2005	2	DLGAP1	18	3814267	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232345	3814267	74262981	17895	28212											
DLGAP1	9229	broad.mit.edu	37	chr18	3879744	3879744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggctgagtggcagctgccGctcgaactggtccagcaggt	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3879744G>A	ENST00000315677.3	-	4	920	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	109					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)				GGCAGCTGCCGCTCGAACTGG	0.687																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(325-327)Cgg>Tgg		discs, large (Drosophila) homolog-associated protein 1							37	42	40					18																	3879744		2170	4252	6422	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879744G>A	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.325C>T	18.37:g.3879744G>A	ENSP00000316377:p.Arg109Trp					DLGAP1_ENST00000581527.1_Missense_Mutation_p.R109W|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R109W|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R109W	p.R109W	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	920	-		Colorectal(8;0.0257)	109					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.325C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440691	0.63067	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.18016	2.24;2.24	5.62	1.93	0.25924	.	0.052268	0.85682	D	0.000000	T	0.37433	0.1003	M	0.67953	2.075	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.67231	0.798;0.95;0.945	T	0.19549	-1.0302	10	0.87932	D	0	-26.0641	14.8458	0.70259	0.0:0.0:0.434:0.566	.	109;109;109	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	W	109	ENSP00000316377:R109W;ENSP00000445973:R109W	ENSP00000316377:R109W	R	-	1	2	DLGAP1	3869744	0.999000	0.42202	0.998000	0.56505	0.983000	0.72400	1.120000	0.31271	0.092000	0.17331	-0.181000	0.13052	CGG		0.687	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			112	484	0	0	0	1	0	112	484					A	3879744	G	A	3879744	3	1	79	1	0	0	0	0	1	0	0	0	4575	1086	38	1	2703	1	DLGAP1	18	3879744	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65477	3879744	74197504	17896	28213											
ZFP161	7541	broad.mit.edu	37	chr18	5290889	5290889	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatcgtctccagctgctgttCtgcttccgcagccatcgctg	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5290889C>T	ENST00000357006.4	-	4	1656	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ZBTB14_ENST00000400143.3_Missense_Mutation_p.E440K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	440					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										AGCTGCTGTTCTGCTTCCGCA	0.547																																						ENST00000357006.4																			0											c.(1318-1320)Gaa>Aaa		zinc finger and BTB domain containing 14							89	76	80					18																	5290889		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5290889C>T	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1318G>A	18.37:g.5290889C>T	ENSP00000349503:p.Glu440Lys					ZBTB14_ENST00000400143.3_Missense_Mutation_p.E440K	p.E440K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1656	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1318G>A	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742409	0.69418	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.10005	2.92;2.92	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.07324	0.0185	N	0.14661	0.345	0.80722	D	1	P	0.41232	0.743	B	0.28385	0.089	T	0.23547	-1.0185	10	0.66056	D	0.02	-27.6814	19.8253	0.96616	0.0:1.0:0.0:0.0	.	440	O43829	ZF161_HUMAN	K	440	ENSP00000349503:E440K;ENSP00000383009:E440K	ENSP00000349503:E440K	E	-	1	0	ZFP161	5280889	.	.	0.956000	0.39512	0.461000	0.32589	.	.	2.676000	0.91093	0.650000	0.86243	GAA		0.547	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		84	353	0	0	0	1	0	84	353					T	5290889	C	T	5290889	3	4	79	1	0	0	0	0	1	0	0	0	17693	922	32	2	35	2	ZFP161	18	5290889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1411145	5290889	72786359	17897	28214											
EPB41L3	23136	broad.mit.edu	37	chr18	5415823	5415823	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccgaggtacacacctcttcCtctgaactgtcactcgggtc	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5415823C>A	ENST00000341928.2	-	13	2401	c.2061G>T	c.(2059-2061)gaG>gaT	p.E687D	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	687	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						ACACCTCTTCCTCTGAACTGT	0.567																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2059-2061)gaG>gaT		erythrocyte membrane protein band 4.1-like 3							73	74	74					18																	5415823		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415823C>A	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.2061G>T	18.37:g.5415823C>A	ENSP00000343158:p.Glu687Asp					EPB41L3_ENST00000342933.3_Missense_Mutation_p.E687D|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron	p.E687D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2401	-			687			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2061G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174364	0.57692	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	D;D	0.82167	-1.58;-1.58	5.65	5.65	0.86999	.	0.356014	0.28889	N	0.013812	T	0.71187	0.3310	N	0.14661	0.345	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.66056	-0.6018	10	0.36615	T	0.2	.	14.5656	0.68173	0.1461:0.8539:0.0:0.0	.	687	Q9Y2J2	E41L3_HUMAN	D	687	ENSP00000343158:E687D;ENSP00000341138:E687D	ENSP00000343158:E687D	E	-	3	2	EPB41L3	5405823	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.704000	0.61831	2.655000	0.90218	0.655000	0.94253	GAG		0.567	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		70	218	1	0	4.98926e-31	1	5.86552e-31	70	218					A	5415823	C	A	5415823	3	1	79	1	0	0	0	0	1	0	0	0	5172	680	24	3	1242	3	EPB41L3	18	5415823	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124934	5415823	72661425	17898	28215											
EPB41L3	23136	broad.mit.edu	37	chr18	5428405	5428405	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttattcgcagccggtcGcgatatatcaacagaccact	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5428405G>A	ENST00000341928.2	-	9	1312	c.972C>T	c.(970-972)cgC>cgT	p.R324R	EPB41L3_ENST00000400111.3_Silent_p.R324R|EPB41L3_ENST00000342933.3_Silent_p.R324R|EPB41L3_ENST00000540638.2_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.R324R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	324	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						GCAGCCGGTCGCGATATATCA	0.413																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(970-972)cgC>cgT		erythrocyte membrane protein band 4.1-like 3							137	142	141					18																	5428405		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5428405G>A	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.972C>T	18.37:g.5428405G>A						EPB41L3_ENST00000342933.3_Silent_p.R324R|EPB41L3_ENST00000544123.1_Silent_p.R324R|EPB41L3_ENST00000400111.3_Silent_p.R324R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.R324R	p.R324R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			9	1312	-			324			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.972C>T	CCDS11838.1																																																																																				0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		25	757	0	0	0	1	0	25	757					A	5428405	G	A	5428405	2	1	79	1	0	0	0	0	0	0	0	1	5172	1074	38	1		1	EPB41L3	18	5428405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12582	5428405	72648843	17899	28216											
TMEM200C	645369	broad.mit.edu	37	chr18	5891977	5891977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctcttcttggctttcCgcttgcgcttgggtatctgg	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	ENST00000581347.2	-	3	731	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	29						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGCTTTCCGCTTGCGCTT	0.612																																						ENST00000581347.1																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(85-87)cGg>cAg		transmembrane protein 200C							82	89	87					18																	5891977		2129	4247	6376	SO:0001583	missense	645369					integral to membrane		g.chr18:5891977C>T		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.86G>A	18.37:g.5891977C>T	ENSP00000463375:p.Arg29Gln					TMEM200C_ENST00000383490.2_Missense_Mutation_p.R29Q|RP11-945C19.4_ENST00000577694.1_RNA	p.R29Q			A6NKL6	T200C_HUMAN			3	731	-			29						Missense_Mutation	SNP	ENST00000581347.2	37	c.86G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845131	0.91197	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.59436	1.845	0.44417	D	0.997337	D	0.89917	1.0	D	0.77557	0.99	T	0.79172	-0.1913	9	0.66056	D	0.02	-11.4275	18.2993	0.90158	0.0:1.0:0.0:0.0	.	29	A6NKL6	T200C_HUMAN	Q	29	.	ENSP00000372982:R29Q	R	-	2	0	TMEM200C	5881977	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.841000	0.62824	2.376000	0.81061	0.557000	0.71058	CGG		0.612	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		46	146	0	0	0	1	0	46	146					T	5891977	C	T	5891977	3	4	79	1	0	0	0	0	1	0	0	0	16177	652	23	1	1783	1	TMEM200C	18	5891977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463572	5891977	72185271	17900	28217											
L3MBTL4	91133	broad.mit.edu	37	chr18	5969448	5969448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtcagccacgcctggaaGcaacttgcagtgttgctccc	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5969448G>A	ENST00000284898.6	-	18	1785	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	529					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)				ACGCCTGGAAGCAACTTGCAG	0.647																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000284898.6																			0				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						c.(1585-1587)Ctt>Ttt		l(3)mbt-like 4 (Drosophila)							56	65	62					18																	5969448		2130	4243	6373	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5969448G>A	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.1585C>T	18.37:g.5969448G>A	ENSP00000284898:p.Leu529Phe					L3MBTL4_ENST00000317931.7_Missense_Mutation_p.L520F|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.L529F|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.L333F	p.L529F	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN			18	1785	-		Colorectal(10;0.0249)	529					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1585C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565267	0.86439	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.19394	2.15;2.15;2.15;2.16	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000019	T	0.47248	0.1435	M	0.76170	2.325	0.46954	D	0.99926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43065	-0.9414	10	0.59425	D	0.04	.	14.9777	0.71286	0.0:0.0:1.0:0.0	.	529;520	Q8NA19;F8W9S8	LMBL4_HUMAN;.	F	529;520;529;333	ENSP00000382976:L529F;ENSP00000318543:L520F;ENSP00000284898:L529F;ENSP00000444774:L333F	ENSP00000284898:L529F	L	-	1	0	L3MBTL4	5959448	1.000000	0.71417	0.997000	0.53966	0.876000	0.50452	6.371000	0.73119	2.586000	0.87340	0.655000	0.94253	CTT		0.647	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		43	400	0	0	0	1	0	43	400					A	5969448	G	A	5969448	3	1	79	1	0	0	0	0	1	0	0	0	8625	971	34	2	298	2	L3MBTL4	18	5969448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77471	5969448	72107800	17901	28218											
L3MBTL4	91133	broad.mit.edu	37	chr18	6263998	6263998	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctgttctttcaagtacCactcccaagaccatgctccc	4	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6263998C>T	ENST00000284898.6	-	5	367	c.167G>A	c.(166-168)tGg>tAg	p.W56*	L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.W56*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	56					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)				TTTCAAGTACCACTCCCAAGA	0.433																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				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						c.(166-168)tGg>tAg		l(3)mbt-like 4 (Drosophila)							86	88	88					18																	6263998		2203	4300	6503	SO:0001587	stop_gained	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6263998C>T	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.167G>A	18.37:g.6263998C>T	ENSP00000284898:p.Trp56*					L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.W56*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W56*	p.W56*			Q8NA19	LMBL4_HUMAN			5	367	-		Colorectal(10;0.0249)	56					A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	ENST00000284898.6	37	c.167G>A	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	37	6.274849	0.97435	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	.	.	.	5.04	2.67	0.31697	.	0.187021	0.34676	N	0.003775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	7.4813	0.27406	0.0:0.1287:0.0:0.8713	.	.	.	.	X	56	.	ENSP00000284898:W56X	W	-	2	0	L3MBTL4	6253998	0.293000	0.24371	1.000000	0.80357	0.974000	0.67602	0.304000	0.19228	0.360000	0.24265	-0.142000	0.14014	TGG		0.433	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		41	259	0	0	0	1	0	41	259					T	6263998	C	T	6263998	4	4	79	1	0	0	0	0	0	1	0	0	8625	595	21	2	1768	2	L3MBTL4	18	6263998	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	294550	6263998	71813250	17902	28219											
ARHGAP28	79822	broad.mit.edu	37	chr18	6837372	6837372	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaggataagcaatctAtcagggatgtcagagacatt	11	5	3	1	rs2303978	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6837372A>G	ENST00000383472.4	+	3	606	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.I9V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	168			I -> V (in dbSNP:rs2303978).		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)				TAAGCAATCTATCAGGGATGT	0.468													A|||	5	0.000998403	0.0	0.0	5008	,	,		15722	0.004		0.0	False		,,,				2504	0.001					ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(25-27)Atc>Gtc		Rho GTPase activating protein 28							111	102	105					18																	6837372		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6837372A>G	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.502A>G	18.37:g.6837372A>G	ENSP00000372964:p.Ile168Val					ARHGAP28_ENST00000531294.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.I168V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.I9V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.I9V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.I116V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.I168V	p.I9V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			2	242	+		Colorectal(10;0.168)	0					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.25A>G		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	A	0.008	-1.907140	0.00512	.	.	ENSG00000088756	ENST00000400091;ENST00000532723;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986	T;T;T;T;T;T;T	0.19938	2.11;2.26;2.11;3.46;3.46;3.46;3.39	5.65	0.755	0.18415	.	0.444690	0.26297	N	0.025190	T	0.03608	0.0103	N	0.01209	-0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41980	-0.9478	10	0.02654	T	1	.	10.7975	0.46470	0.3132:0.0:0.6868:0.0	rs2303978;rs52829196;rs2303978	9;116	F6VKJ9;Q9P2N2-2	.;.	V	168;116;116;9;9;9;9	ENSP00000382963:I168V;ENSP00000433390:I116V;ENSP00000262227:I116V;ENSP00000392660:I9V;ENSP00000437262:I9V;ENSP00000313506:I9V;ENSP00000406907:I9V	ENSP00000262227:I116V	I	+	1	0	ARHGAP28	6827372	0.175000	0.23083	0.002000	0.10522	0.206000	0.24218	0.912000	0.28597	-0.069000	0.12931	-0.766000	0.03442	ATC		0.468	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		53	236	0	0	0	1	0	53	236					G	6837372	A	G	6837372	3	3	79	1	0	0	0	0	1	0	0	0	877	449	16	4	27	4	ARHGAP28	18	6837372	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	573374	6837372	71239876	17903	28220											
ARHGAP28	79822	broad.mit.edu	37	chr18	6868198	6868198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcattccaatggatcacCggagcctggacagccagttc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6868198C>T	ENST00000383472.4	+	6	880	c.776C>T	c.(775-777)cCg>cTg	p.P259L	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.P100L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	259					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)				AATGGATCACCGGAGCCTGGA	0.463																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(298-300)cCg>cTg		Rho GTPase activating protein 28							168	141	150					18																	6868198		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6868198C>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.776C>T	18.37:g.6868198C>T	ENSP00000372964:p.Pro259Leu					ARHGAP28_ENST00000531294.1_Missense_Mutation_p.P95L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.P82L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.P259L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.P100L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.P100L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.P207L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.P259L	p.P100L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			5	516	+		Colorectal(10;0.168)	82					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.299C>T		.	.	.	.	.	.	.	.	.	.	C	10.65	1.410856	0.25465	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.07021	3.38;3.34;3.3;3.3;3.3;3.23	5.72	3.69	0.42338	.	1.798430	0.02100	N	0.053861	T	0.08223	0.0205	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.21452	0.007;0.005;0.056;0.005	B;B;B;B	0.12837	0.002;0.001;0.008;0.001	T	0.24548	-1.0157	10	0.30854	T	0.27	.	6.5227	0.22285	0.2533:0.6558:0.0:0.0909	.	259;91;100;207	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	L	259;207;100;95;100;100;91;82	ENSP00000382963:P259L;ENSP00000262227:P207L;ENSP00000392660:P100L;ENSP00000437262:P95L;ENSP00000313506:P100L;ENSP00000406907:P100L	ENSP00000262227:P207L	P	+	2	0	ARHGAP28	6858198	0.006000	0.16342	0.005000	0.12908	0.201000	0.24016	1.625000	0.37029	1.572000	0.49736	0.655000	0.94253	CCG		0.463	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		24	201	0	0	0	1	0	24	201					T	6868198	C	T	6868198	3	4	79	1	0	0	0	0	1	0	0	0	877	652	23	1	313	1	ARHGAP28	18	6868198	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30826	6868198	71209050	17904	28221											
LAMA1	284217	broad.mit.edu	37	chr18	6943388	6943388	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccagcaccattgttgAcatggaacaagacctaaaag	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6943388A>G	ENST00000389658.3	-	62	8951	c.8858T>C	c.(8857-8859)gTc>gCc	p.V2953A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2953	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCATTGTTGACATGGAACAA	0.408																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8857-8859)gTc>gCc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						141	127	132					18																	6943388		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943388A>G	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.8858T>C	18.37:g.6943388A>G	ENSP00000374309:p.Val2953Ala						p.V2953A	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			62	8951	-		Colorectal(10;0.172)	2953			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8858T>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933569	0.73442	.	.	ENSG00000101680	ENST00000389658	T	0.76578	-1.03	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	D	0.000004	D	0.85465	0.5703	L	0.60845	1.875	0.46078	D	0.998851	D;D	0.89917	1.0;0.988	D;D	0.97110	1.0;0.917	D	0.84686	0.0720	10	0.37606	T	0.19	.	15.5018	0.75705	1.0:0.0:0.0:0.0	.	2953;283	P25391;B3KSD8	LAMA1_HUMAN;.	A	2953	ENSP00000374309:V2953A	ENSP00000374309:V2953A	V	-	2	0	LAMA1	6933388	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.146000	0.77373	2.073000	0.62155	0.456000	0.33151	GTC		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		64	271	0	0	0	1	0	64	271					G	6943388	A	G	6943388	3	3	79	1	0	0	0	0	1	0	0	0	8636	275	10	4	377	4	LAMA1	18	6943388	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75190	6943388	71133860	17905	28222											
LAMA1	284217	broad.mit.edu	37	chr18	6947173	6947173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacccaccttgccgtccaCaagctctagtccaatggcat	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6947173C>T	ENST00000389658.3	-	61	8926	c.8833G>A	c.(8833-8835)Gtg>Atg	p.V2945M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2945	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTGCCGTCCACAAGCTCTAGT	0.522																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8833-8835)Gtg>Atg		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						149	109	123					18																	6947173		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6947173C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8833G>A	18.37:g.6947173C>T	ENSP00000374309:p.Val2945Met						p.V2945M	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			61	8926	-		Colorectal(10;0.172)	2945			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8833G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542615	0.13250	.	.	ENSG00000101680	ENST00000389658	T	0.77489	-1.1	5.64	2.88	0.33553	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.291766	0.31884	N	0.006913	T	0.80110	0.4563	M	0.84683	2.71	0.09310	N	1	B;B	0.34200	0.393;0.441	B;B	0.40199	0.232;0.322	T	0.70916	-0.4742	10	0.33141	T	0.24	.	11.315	0.49386	0.0:0.8068:0.0:0.1932	.	2945;275	P25391;B3KSD8	LAMA1_HUMAN;.	M	2945	ENSP00000374309:V2945M	ENSP00000374309:V2945M	V	-	1	0	LAMA1	6937173	0.366000	0.25014	0.040000	0.18447	0.107000	0.19398	0.920000	0.28705	1.404000	0.46819	-0.448000	0.05591	GTG		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		50	251	0	0	0	1	0	50	251					T	6947173	C	T	6947173	3	4	79	1	0	0	0	0	1	0	0	0	8636	478	17	2	406	2	LAMA1	18	6947173	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3785	6947173	71130075	17906	28223											
LAMA1	284217	broad.mit.edu	37	chr18	6948455	6948455	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcctgggccactgcgTagcacctgttcaccgtgaag	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6948455T>C	ENST00000389658.3	-	60	8750	c.8657A>G	c.(8656-8658)tAc>tGc	p.Y2886C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2886					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)				GGCCACTGCGTAGCACCTGTT	0.542																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8656-8658)tAc>tGc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						164	108	127					18																	6948455		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6948455T>C	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.8657A>G	18.37:g.6948455T>C	ENSP00000374309:p.Tyr2886Cys						p.Y2886C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			60	8750	-		Colorectal(10;0.172)	2886						Missense_Mutation	SNP	ENST00000389658.3	37	c.8657A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.579569	0.28180	.	.	ENSG00000101680	ENST00000389658	T	0.18960	2.18	5.7	3.27	0.37495	Concanavalin A-like lectin/glucanase, subgroup (1);	0.234553	0.36665	N	0.002474	T	0.41305	0.1153	M	0.70595	2.14	0.32520	N	0.536383	D;D	0.76494	0.999;0.999	D;D	0.65684	0.935;0.937	T	0.55211	-0.8176	10	0.72032	D	0.01	.	11.188	0.48669	0.2451:0.0:0.0:0.7549	.	2886;216	P25391;B3KSD8	LAMA1_HUMAN;.	C	2886	ENSP00000374309:Y2886C	ENSP00000374309:Y2886C	Y	-	2	0	LAMA1	6938455	0.993000	0.37304	0.480000	0.27341	0.012000	0.07955	2.448000	0.44926	0.412000	0.25729	-0.444000	0.05651	TAC		0.542	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		43	182	0	0	0	1	0	43	182					C	6948455	T	C	6948455	3	2	79	1	0	0	0	0	1	0	0	0	8636	1638	57	4	586	4	LAMA1	18	6948455	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1282	6948455	71128793	17907	28224											
LAMA1	284217	broad.mit.edu	37	chr18	6973184	6973184	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcatttcctttacacTcagtgaaccaatgtttccaa	5	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6973184T>C	ENST00000389658.3	-	47	6739	c.6646A>G	c.(6646-6648)Agt>Ggt	p.S2216G	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2216	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCCTTTACACTCAGTGAACCA	0.378																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(6646-6648)Agt>Ggt		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						145	135	138					18																	6973184		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6973184T>C	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.6646A>G	18.37:g.6973184T>C	ENSP00000374309:p.Ser2216Gly						p.S2216G	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			47	6739	-		Colorectal(10;0.172)	2216			Laminin G-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6646A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287825	0.59976	.	.	ENSG00000101680	ENST00000389658	T	0.78126	-1.15	5.52	4.32	0.51571	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.407860	0.26836	N	0.022253	T	0.77432	0.4129	L	0.60845	1.875	0.28094	N	0.931683	P	0.40970	0.734	B	0.44315	0.446	T	0.71849	-0.4468	10	0.49607	T	0.09	.	12.8178	0.57675	0.0:0.0:0.1365:0.8635	.	2216	P25391	LAMA1_HUMAN	G	2216	ENSP00000374309:S2216G	ENSP00000374309:S2216G	S	-	1	0	LAMA1	6963184	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.058000	0.71126	0.992000	0.38840	0.523000	0.50628	AGT		0.378	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		14	356	0	0	0	1	0	14	356					C	6973184	T	C	6973184	3	2	79	1	0	0	0	0	1	0	0	0	8636	1551	54	4	2649	4	LAMA1	18	6973184	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	24729	6973184	71104064	17908	28225											
LAMA1	284217	broad.mit.edu	37	chr18	7013955	7013955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taacccaaggaacactgatcGcaggcccggccaccaaattt	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7013955G>A	ENST00000389658.3	-	23	3315	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1074	Laminin EGF-like 12. {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)				AACACTGATCGCAGGCCCGGC	0.597																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3220-3222)tgC>tgT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						49	40	43					18																	7013955		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7013955G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3222C>T	18.37:g.7013955G>A							p.C1074C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			23	3315	-		Colorectal(10;0.172)	1074			Laminin EGF-like 12.			Silent	SNP	ENST00000389658.3	37	c.3222C>T	CCDS32787.1																																																																																				0.597	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		26	111	0	0	0	1	0	26	111					A	7013955	G	A	7013955	2	1	79	1	0	0	0	0	0	0	0	1	8636	1079	38	1		1	LAMA1	18	7013955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40771	7013955	71063293	17909	28226											
LAMA1	284217	broad.mit.edu	37	chr18	7015724	7015724	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggatgacagtgctcacctgGcaccccacctccgcatcgta	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7015724G>A	ENST00000389658.3	-	22	3216	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1041	Laminin EGF-like 11. {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)				TGCTCACCTGGCACCCCACCT	0.512																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3121-3123)tgC>tgT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						137	115	123					18																	7015724		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7015724G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3123C>T	18.37:g.7015724G>A							p.C1041C	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			22	3216	-		Colorectal(10;0.172)	1041			Laminin EGF-like 11.			Silent	SNP	ENST00000389658.3	37	c.3123C>T	CCDS32787.1																																																																																				0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		21	532	0	0	0	1	0	21	532					A	7015724	G	A	7015724	2	1	79	1	0	0	0	0	0	0	0	1	8636	1195	42	2		2	LAMA1	18	7015724	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1769	7015724	71061524	17910	28227											
LAMA1	284217	broad.mit.edu	37	chr18	7034541	7034541	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgtgtcacattggcaAggacagtcatcagctggtca	11	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7034541A>G	ENST00000389658.3	-	14	2081	c.1988T>C	c.(1987-1989)cTt>cCt	p.L663P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	663	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)				CACATTGGCAAGGACAGTCAT	0.408																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1987-1989)cTt>cCt		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153	141	145					18																	7034541		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7034541A>G	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.1988T>C	18.37:g.7034541A>G	ENSP00000374309:p.Leu663Pro						p.L663P	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			14	2081	-		Colorectal(10;0.172)	663			Laminin IV type A 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.1988T>C	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418436	0.83559	.	.	ENSG00000101680	ENST00000389658	T	0.65364	-0.15	5.9	5.9	0.94986	Laminin B type IV (2);Laminin B, subgroup (1);	0.070910	0.56097	D	0.000021	D	0.83519	0.5272	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86760	0.1966	10	0.59425	D	0.04	.	16.3283	0.82996	1.0:0.0:0.0:0.0	.	663	P25391	LAMA1_HUMAN	P	663	ENSP00000374309:L663P	ENSP00000374309:L663P	L	-	2	0	LAMA1	7024541	1.000000	0.71417	0.957000	0.39632	0.989000	0.77384	8.175000	0.89684	2.257000	0.74773	0.533000	0.62120	CTT		0.408	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		18	374	0	0	0	1	0	18	374					G	7034541	A	G	7034541	3	3	79	1	0	0	0	0	1	0	0	0	8636	72	3	4	7439	4	LAMA1	18	7034541	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18817	7034541	71042707	17911	28228											
LAMA1	284217	broad.mit.edu	37	chr18	7043403	7043403	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttattgtgacaattacaTgctaggagaatatttttaac	7	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7043403T>C	ENST00000389658.3	-	8	1071	c.978A>G	c.(976-978)gcA>gcG	p.A326A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	326	Laminin EGF-like 1. {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)				GACAATTACATGCTAGGAGAA	0.338																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.e8-1		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						97	86	90					18																	7043403		2203	4300	6503	SO:0001630	splice_region_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7043403T>C	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.977-1A>G	18.37:g.7043403T>C							p.A326_splice	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			8	1071	-		Colorectal(10;0.172)	326			Laminin EGF-like 1.			Splice_Site	SNP	ENST00000389658.3	37	c.976_splice	CCDS32787.1																																																																																				0.338	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	Silent	14	385	0	0	0	1	0	14	385					C	7043403	T	C	7043403	5	2	79	1	0	0	0	0	0	0	1	0	8636	1478	51	4	8473	4	LAMA1	18	7043403	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8862	7043403	71033845	17912	28229											
LRRC30	339291	broad.mit.edu	37	chr18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcggtccctgctgaagCggggcatgcaccacgtcagc	13	16	1	1	rs370451342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.0					ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(136-138)Cgg>Tgg		leucine rich repeat containing 30		C	TRP/ARG	1,3965		0,1,1982	71	75	73		136	5.7	1	18		73	0,8322		0,0,4161	no	missense	LRRC30	NM_001105581.1	101	0,1,6143	TT,TC,CC		0.0,0.0252,0.0081	probably-damaging	46/302	7231272	1,12287	1983	4161	6144	SO:0001583	missense	339291							g.chr18:7231272C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.136C>T	18.37:g.7231272C>T	ENSP00000372959:p.Arg46Trp						p.R46W	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	150	+			46						Missense_Mutation	SNP	ENST00000383467.2	37	c.136C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017675	0.75161	2.52E-4	0.0	ENSG00000206422	ENST00000383467	T	0.46063	0.88	5.65	5.65	0.86999	.	0.523108	0.19917	N	0.103161	T	0.39226	0.1070	L	0.32530	0.975	0.38096	D	0.937119	D	0.71674	0.998	P	0.47528	0.549	T	0.35500	-0.9786	10	0.56958	D	0.05	.	12.5974	0.56478	0.0:0.9239:0.0:0.0761	.	46	A6NM36	LRC30_HUMAN	W	46	ENSP00000372959:R46W	ENSP00000372959:R46W	R	+	1	2	LRRC30	7221272	0.998000	0.40836	0.976000	0.42696	0.825000	0.46686	0.830000	0.27462	2.827000	0.97445	0.650000	0.86243	CGG		0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		92	401	0	0	0	1	0	92	401					T	7231272	C	T	7231272	3	4	79	1	0	0	0	0	1	0	0	0	9023	759	27	1	138	1	LRRC30	18	7231272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187869	7231272	70845976	17913	28230											
PTPRM	5797	broad.mit.edu	37	chr18	7888369	7888369	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtactttctggcctaacttTtatcaggtatgtgctttctt	7	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7888369T>G	ENST00000332175.8	+	3	1499	c.462T>G	c.(460-462)ttT>ttG	p.F154L	PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	154	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)				GGCCTAACTTTTATCAGGTAT	0.348																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(460-462)ttT>ttG		protein tyrosine phosphatase, receptor type, M							64	67	66					18																	7888369		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888369T>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.462T>G	18.37:g.7888369T>G	ENSP00000331418:p.Phe154Leu					PTPRM_ENST00000400053.4_Missense_Mutation_p.F92L|PTPRM_ENST00000580170.1_Missense_Mutation_p.F154L|PTPRM_ENST00000400060.4_Missense_Mutation_p.F154L	p.F154L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			3	1499	+		Colorectal(10;0.234)	154			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.462T>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006859	0.74932	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02050	4.48;4.48;4.48	6.07	0.947	0.19555	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.108351	0.64402	D	0.000004	T	0.02494	0.0076	L	0.39633	1.23	0.80722	D	1	P;P	0.45011	0.848;0.848	B;B	0.41036	0.346;0.346	T	0.59742	-0.7397	10	0.46703	T	0.11	.	10.3573	0.43972	0.0:0.333:0.0:0.667	.	154;154	A7MBN1;P28827	.;PTPRM_HUMAN	L	154;154;92	ENSP00000331418:F154L;ENSP00000382933:F154L;ENSP00000382927:F92L	ENSP00000331418:F154L	F	+	3	2	PTPRM	7878369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.280000	0.33202	0.178000	0.19917	0.533000	0.62120	TTT		0.348	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			69	412	0	0	0	1	0	69	412					G	7888369	T	G	7888369	3	3	79	1	0	0	0	0	1	0	0	0	12856	1838	64	4	472	4	PTPRM	18	7888369	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	657097	7888369	70188879	17914	28231											
PTPRM	5797	broad.mit.edu	37	chr18	7926650	7926650	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgcagtgccatcggcaGgaccgtggcaggagacaggc	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7926650G>T	ENST00000332175.8	+	5	1669	c.632G>T	c.(631-633)aGg>aTg	p.R211M	PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M|PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	211	Ig-like C2-type.				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)				GCCATCGGCAGGACCGTGGCA	0.507																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(631-633)aGg>aTg		protein tyrosine phosphatase, receptor type, M							84	80	81					18																	7926650		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7926650G>T	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.632G>T	18.37:g.7926650G>T	ENSP00000331418:p.Arg211Met					PTPRM_ENST00000400053.4_Missense_Mutation_p.R149M|PTPRM_ENST00000580170.1_Missense_Mutation_p.R211M|PTPRM_ENST00000400060.4_Missense_Mutation_p.R211M	p.R211M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			5	1669	+		Colorectal(10;0.234)	211			Ig-like C2-type.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.632G>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926527	0.52759	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.22743	1.94;1.94;1.94	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.104379	0.64402	D	0.000006	T	0.20129	0.0484	L	0.47190	1.495	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.37091	0.241;0.241	T	0.01684	-1.1296	10	0.87932	D	0	.	10.9831	0.47506	0.1443:0.0:0.8557:0.0	.	211;211	A7MBN1;P28827	.;PTPRM_HUMAN	M	211;211;149	ENSP00000331418:R211M;ENSP00000382933:R211M;ENSP00000382927:R149M	ENSP00000331418:R211M	R	+	2	0	PTPRM	7916650	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.022000	0.49659	2.602000	0.87976	0.563000	0.77884	AGG		0.507	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			52	275	1	0	4.78724e-31	1	5.62855e-31	52	275					T	7926650	G	T	7926650	3	4	79	1	0	0	0	0	1	0	0	0	12856	1000	35	3	650	3	PTPRM	18	7926650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38281	7926650	70150598	17915	28232											
PTPRM	5797	broad.mit.edu	37	chr18	8069961	8069961	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggccggaaggaaagCcaagaactcatagtgcagac	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8069961C>A	ENST00000332175.8	+	8	2447	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R|PTPRM_ENST00000578571.1_3'UTR	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	470	Fibronectin type-III 2. {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)				GGAAGGAAAGCCAAGAACTCA	0.423																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1408-1410)agC>agA		protein tyrosine phosphatase, receptor type, M							94	75	81					18																	8069961		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8069961C>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.1410C>A	18.37:g.8069961C>A	ENSP00000331418:p.Ser470Arg					PTPRM_ENST00000400053.4_Missense_Mutation_p.S408R|PTPRM_ENST00000444013.1_Missense_Mutation_p.S257R|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.S470R|PTPRM_ENST00000400060.4_Missense_Mutation_p.S470R	p.S470R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			8	2447	+		Colorectal(10;0.234)	470			Fibronectin type-III 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1410C>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071031	0.76301	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.52	-5.01	0.02991	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73544	0.3600	M	0.74881	2.28	0.49687	D	0.999814	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.992;0.992	T	0.75337	-0.3353	10	0.27785	T	0.31	.	17.3804	0.87403	0.0:0.7317:0.0:0.2683	.	257;470;470	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	R	470;470;408;257	ENSP00000331418:S470R;ENSP00000382933:S470R;ENSP00000382927:S408R;ENSP00000387608:S257R	ENSP00000331418:S470R	S	+	3	2	PTPRM	8059961	0.841000	0.29509	0.733000	0.30861	0.989000	0.77384	0.065000	0.14466	-0.815000	0.04346	-0.302000	0.09304	AGC		0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			23	115	1	0	1.10513e-12	1	1.18868e-12	23	115					A	8069961	C	A	8069961	3	1	79	1	0	0	0	0	1	0	0	0	12856	738	26	3	1440	3	PTPRM	18	8069961	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	143311	8069961	70007287	17916	28233											
PTPRM	5797	broad.mit.edu	37	chr18	8113534	8113534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgaagaactaaaaagaCgacagaaatcttaaagtgct	7	8	1	3	rs201745703		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8113534C>T	ENST00000332175.8	+	12	2944	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M|PTPRM_ENST00000578571.1_3'UTR	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	636	Fibronectin type-III 4. {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)				ACTAAAAAGACGACAGAAATC	0.388																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(1906-1908)aCg>aTg		protein tyrosine phosphatase, receptor type, M							104	99	100					18																	8113534		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8113534C>T	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.1907C>T	18.37:g.8113534C>T	ENSP00000331418:p.Thr636Met					PTPRM_ENST00000400053.4_Missense_Mutation_p.T574M|PTPRM_ENST00000444013.1_Missense_Mutation_p.T423M|PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000580170.1_Missense_Mutation_p.T636M|PTPRM_ENST00000400060.4_Missense_Mutation_p.T636M	p.T636M	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			12	2944	+		Colorectal(10;0.234)	636			Fibronectin type-III 4.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.1907C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138704	0.77775	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.48201	1.14;1.14;0.97;0.82	5.84	5.84	0.93424	Fibronectin, type III (1);	0.158718	0.56097	D	0.000036	T	0.57873	0.2083	L	0.40543	1.245	0.58432	D	0.999999	D;P;P	0.67145	0.996;0.776;0.776	P;B;B	0.57204	0.815;0.34;0.34	T	0.55398	-0.8147	10	0.51188	T	0.08	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	423;636;636	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	M	636;636;574;423	ENSP00000331418:T636M;ENSP00000382933:T636M;ENSP00000382927:T574M;ENSP00000387608:T423M	ENSP00000331418:T636M	T	+	2	0	PTPRM	8103534	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.487000	0.81328	2.764000	0.94973	0.650000	0.86243	ACG		0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			67	291	0	0	0	1	0	67	291					T	8113534	C	T	8113534	3	4	79	1	0	0	0	0	1	0	0	0	12856	536	19	1	1953	1	PTPRM	18	8113534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43573	8113534	69963714	17917	28234											
PTPRM	5797	broad.mit.edu	37	chr18	8244161	8244161	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagggcacaaactgCgacgaggctttctcattcat	11	11	2	1	rs376160903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8244161C>T	ENST00000332175.8	+	15	3443	c.2406C>T	c.(2404-2406)tgC>tgT	p.C802C	PTPRM_ENST00000400053.4_Silent_p.C740C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400060.4_Silent_p.C802C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	802					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)				GCACAAACTGCGACGAGGCTT	0.483																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2404-2406)tgC>tgT		protein tyrosine phosphatase, receptor type, M		C	,	1,4405	2.1+/-5.4	0,1,2202	159	143	148		2406,2406	-0.1	1	18		148	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRM	NM_001105244.1,NM_002845.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	802/1466,802/1453	8244161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8244161C>T	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.2406C>T	18.37:g.8244161C>T						PTPRM_ENST00000400053.4_Silent_p.C740C|PTPRM_ENST00000444013.1_Silent_p.C589C|PTPRM_ENST00000580170.1_Silent_p.C802C|PTPRM_ENST00000400060.4_Silent_p.C802C	p.C802C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			15	3443	+		Colorectal(10;0.234)	802					A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.2406C>T	CCDS11840.1																																																																																				0.483	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			78	373	0	0	0	1	0	78	373					T	8244161	C	T	8244161	2	4	79	1	0	0	0	0	0	0	0	1	12856	776	27	1		1	PTPRM	18	8244161	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130627	8244161	69833087	17918	28235											
PTPRM	5797	broad.mit.edu	37	chr18	8252488	8252488	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtatcttcttaaaagtgCcaataaatggtaagttcccc	6	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8252488C>T	ENST00000332175.8	+	17	3564				PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000580170.1_Missense_Mutation_p.P853S|PTPRM_ENST00000400060.4_Intron	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)				CTTAAAAGTGCCAATAAATGG	0.428																																						ENST00000580170.1																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(2557-2559)Cca>Tca		protein tyrosine phosphatase, receptor type, M							155	152	153					18																	8252488		1908	4127	6035	SO:0001627	intron_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8252488C>T	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.2528-737C>T	18.37:g.8252488C>T						PTPRM_ENST00000400053.4_Intron|PTPRM_ENST00000444013.1_Intron|PTPRM_ENST00000400060.4_Intron|PTPRM_ENST00000332175.8_Intron	p.P853S	NM_001105244.1	NP_001098714.1	P28827	PTPRM_HUMAN			18	3594	+		Colorectal(10;0.234)	842					A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2557C>T	CCDS11840.1																																																																																				0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			45	284	0	0	0	1	0	45	284					T	8252488	C	T	8252488	1	4	79	0	1	0	0	0	0	0	0	0	12856	739	26	2		2	PTPRM	18	8252488	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8327	8252488	69824760	17919	28236											
PTPRM	5797	broad.mit.edu	37	chr18	8380330	8380330	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttatagtcacccagCatcctttgccaaacacagtg	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8380330C>T	ENST00000332175.8	+	27	4821	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1262	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTCACCCAGCATCCTTTGCC	0.433																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(3784-3786)Cat>Tat		protein tyrosine phosphatase, receptor type, M							99	90	93					18																	8380330		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8380330C>T	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.3784C>T	18.37:g.8380330C>T	ENSP00000331418:p.His1262Tyr					PTPRM_ENST00000400053.4_Missense_Mutation_p.H1200Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1049Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1275Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.H1276Y	p.H1262Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			27	4821	+		Colorectal(10;0.234)	1262			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3784C>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391628	0.83011	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13538	2.58;2.58;2.58;2.58	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.76002	2.32	0.80722	D	1	B;D;D	0.62365	0.12;0.991;0.969	B;D;D	0.76575	0.291;0.988;0.968	T	0.04708	-1.0932	10	0.42905	T	0.14	.	19.7344	0.96195	0.0:1.0:0.0:0.0	.	1049;1275;1262	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	1262;1276;1200;1049	ENSP00000331418:H1262Y;ENSP00000382933:H1276Y;ENSP00000382927:H1200Y;ENSP00000387608:H1049Y	ENSP00000331418:H1262Y	H	+	1	0	PTPRM	8370330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.673000	0.90976	0.591000	0.81541	CAT		0.433	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			52	279	0	0	0	1	0	52	279					T	8380330	C	T	8380330	3	4	79	1	0	0	0	0	1	0	0	0	12856	710	25	2	3937	2	PTPRM	18	8380330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127842	8380330	69696918	17920	28237											
KIAA0802	23255	broad.mit.edu	37	chr18	8783729	8783729	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacccgggaggccgagCtgaagctgcggctaaagctg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8783729C>T	ENST00000306329.11	+	5	1699	c.1699C>T	c.(1699-1701)Ctg>Ttg	p.L567L	SOGA2_ENST00000400050.3_Silent_p.L207L|SOGA2_ENST00000517570.1_Silent_p.L207L|SOGA2_ENST00000359865.3_Silent_p.L207L|SOGA2_ENST00000306285.7_5'UTR																							GGAGGCCGAGCTGAAGCTGCG	0.642																																						ENST00000359865.3																			0											c.(619-621)Ctg>Ttg		SOGA family member 2							13	14	14					18																	8783729		2195	4294	6489	SO:0001819	synonymous_variant	23255							g.chr18:8783729C>T																												ENST00000306329.11:c.1699C>T	18.37:g.8783729C>T						SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Silent_p.L207L|SOGA2_ENST00000517570.1_Silent_p.L207L|SOGA2_ENST00000306329.11_Silent_p.L567L	p.L207L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			6	761	+			558						Silent	SNP	ENST00000306329.11	37	c.619C>T																																																																																					0.642	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			18	94	0	0	0	1	0	18	94					T	8783729	C	T	8783729	2	4	79	1	0	0	0	0	0	0	0	1	8224	796	28	2		2	KIAA0802	18	8783729	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403399	8783729	69293519	17921	28238											
KIAA0802	23255	broad.mit.edu	37	chr18	8813213	8813213	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagcggcagaagaaggaattCttgtggaggatagagcaggt	17	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8813213C>T	ENST00000306329.11	+	10	3798	c.3798C>T	c.(3796-3798)ttC>ttT	p.F1266F	SOGA2_ENST00000518815.1_Silent_p.F300F|SOGA2_ENST00000400050.3_Silent_p.F906F|SOGA2_ENST00000517570.1_Silent_p.F906F|SOGA2_ENST00000359865.3_Silent_p.F947F|SOGA2_ENST00000306285.7_Silent_p.F300F																							AGAAGGAATTCTTGTGGAGGA	0.567																																						ENST00000359865.3																			0											c.(2839-2841)ttC>ttT		SOGA family member 2							23	24	24					18																	8813213		2201	4300	6501	SO:0001819	synonymous_variant	23255							g.chr18:8813213C>T																												ENST00000306329.11:c.3798C>T	18.37:g.8813213C>T						SOGA2_ENST00000518815.1_Silent_p.F300F|SOGA2_ENST00000306285.7_Silent_p.F300F|SOGA2_ENST00000400050.3_Silent_p.F906F|SOGA2_ENST00000517570.1_Silent_p.F906F|SOGA2_ENST00000306329.11_Silent_p.F1266F	p.F947F	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			12	2983	+			1257						Silent	SNP	ENST00000306329.11	37	c.2841C>T		.	.	.	.	.	.	.	.	.	.	C	6.149	0.395697	0.11638	.	.	ENSG00000168502	ENST00000519823	.	.	.	4.96	-3.48	0.04739	.	.	.	.	.	T	0.57562	0.2062	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.58014	-0.7711	4	.	.	.	-10.4086	12.5213	0.56060	0.0:0.2886:0.5687:0.1427	.	.	.	.	F	81	.	.	L	+	1	0	CCDC165	8803213	0.967000	0.33354	0.000000	0.03702	0.808000	0.45660	0.079000	0.14782	-0.507000	0.06549	0.462000	0.41574	CTT		0.567	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			14	78	0	0	0	1	0	14	78					T	8813213	C	T	8813213	2	4	79	1	0	0	0	0	0	0	0	1	8224	912	32	2		2	KIAA0802	18	8813213	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29484	8813213	69264035	17922	28239											
KIAA0802	23255	broad.mit.edu	37	chr18	8819017	8819017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctgtgatcaaaaagaCggcaacgttcgcccctttcc	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8819017C>T	ENST00000306329.11	+	11	3873	c.3873C>T	c.(3871-3873)gaC>gaT	p.D1291D	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Silent_p.D931D|SOGA2_ENST00000517570.1_Silent_p.D931D|SOGA2_ENST00000359865.3_Silent_p.D972D|SOGA2_ENST00000306285.7_Intron																							ATCAAAAAGACGGCAACGTTC	0.507																																						ENST00000359865.3																			0											c.(2914-2916)gaC>gaT		SOGA family member 2							67	75	73					18																	8819017		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8819017C>T																												ENST00000306329.11:c.3873C>T	18.37:g.8819017C>T						SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Silent_p.D931D|SOGA2_ENST00000517570.1_Silent_p.D931D|SOGA2_ENST00000306329.11_Silent_p.D1291D	p.D972D	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			13	3058	+			1282						Silent	SNP	ENST00000306329.11	37	c.2916C>T																																																																																					0.507	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			145	533	0	0	0	1	0	145	533					T	8819017	C	T	8819017	2	4	79	1	0	0	0	0	0	0	0	1	8224	535	19	1		1	KIAA0802	18	8819017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5804	8819017	69258231	17923	28240											
ANKRD12	23253	broad.mit.edu	37	chr18	9255009	9255009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattacagcctgatcttgttCggtatgataatacagaatct	7	8	2	3	rs187421957	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	ENST00000262126.4	+	9	1984	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R559W	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	582						cytoplasm (GO:0005737)|nucleus (GO:0005634)				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						TGATCTTGTTCGGTATGATAA	0.333													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19035	0.0		0.0	False		,,,				2504	0.0					ENST00000383440.2																			0				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						c.(1675-1677)Cgg>Tgg		ankyrin repeat domain 12							64	66	65					18																	9255009		2202	4297	6499	SO:0001583	missense	23253					nucleus		g.chr18:9255009C>T	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.1744C>T	18.37:g.9255009C>T	ENSP00000262126:p.Arg582Trp					ANKRD12_ENST00000262126.3_Missense_Mutation_p.R582W|ANKRD12_ENST00000400020.3_Missense_Mutation_p.R559W	p.R559W	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			8	1932	+			582					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.1675C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021177	0.54576	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.92647	-3.08;-3.08	5.92	4.97	0.65823	.	0.057065	0.64402	D	0.000001	D	0.95984	0.8692	M	0.77820	2.39	0.47778	D	0.999513	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.987;0.971	D	0.96146	0.9104	10	0.87932	D	0	-8.2663	17.8287	0.88674	0.1302:0.8698:0.0:0.0	.	209;559;582	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	W	559;582;289	ENSP00000372932:R559W;ENSP00000262126:R582W	ENSP00000262126:R582W	R	+	1	2	ANKRD12	9245009	1.000000	0.71417	0.937000	0.37676	0.988000	0.76386	3.404000	0.52623	2.814000	0.96858	0.585000	0.79938	CGG		0.333	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		59	269	0	0	0	1	0	59	269					T	9255009	C	T	9255009	3	4	79	1	0	0	0	0	1	0	0	0	640	875	31	1	1774	1	ANKRD12	18	9255009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435992	9255009	68822239	17924	28241											
TWSG1	57045	broad.mit.edu	37	chr18	9359999	9359999	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtgccggccgggagaaggCaattgctcctgctgtaagga	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9359999C>T	ENST00000262120.5	+	3	344	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TWSG1_ENST00000581641.1_Silent_p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	51	Cys-rich.				BMP signaling pathway (GO:0030509)|camera-type eye development (GO:0043010)|cell differentiation (GO:0030154)|forebrain development (GO:0030900)|hemopoiesis (GO:0030097)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of BMP signaling pathway (GO:0030513)|salivary gland morphogenesis (GO:0007435)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CGGGAGAAGGCAATTGCTCCT	0.443																																						ENST00000262120.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						c.(151-153)ggC>ggT		twisted gastrulation BMP signaling modulator 1							116	109	112					18																	9359999		2203	4300	6503	SO:0001819	synonymous_variant	57045							g.chr18:9359999C>T	AA486291	CCDS11844.1	18p11.3	2013-10-03	2013-10-03		ENSG00000128791	ENSG00000128791			12429	protein-coding gene	gene with protein product		605049	"twisted gastrulation homolog 1 (Drosophila)"			11260715	Standard	NM_020648		Approved	TSG	uc002knz.3	Q9GZX9	OTTHUMG00000131597	ENST00000262120.5:c.153C>T	18.37:g.9359999C>T						TWSG1_ENST00000581641.1_Silent_p.G51G	p.G51G	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN			3	344	+			51			Cys-rich.		B2RE08|D3DUH9|Q8NBI7|Q96K46	Silent	SNP	ENST00000262120.5	37	c.153C>T	CCDS11844.1																																																																																				0.443	TWSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254480.2			75	297	0	0	0	1	0	75	297					T	9359999	C	T	9359999	2	4	79	1	0	0	0	0	0	0	0	1	16839	697	25	2		2	TWSG1	18	9359999	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104990	9359999	68717249	17925	28242											
RALBP1	10928	broad.mit.edu	37	chr18	9513171	9513171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagtttcctggattgtaccGcactggcgagccctcacctc	9	14	1	0	rs371220710		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9513171G>A	ENST00000019317.4	+	2	351	c.128G>A	c.(127-129)cGc>cAc	p.R43H	RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H			Q15311	RBP1_HUMAN	ralA binding protein 1	43					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GGATTGTACCGCACTGGCGAG	0.542																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(127-129)cGc>cAc		ralA binding protein 1		G	HIS/ARG	0,4406		0,0,2203	61	60	60		128	5.1	1	18		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	RALBP1	NM_006788.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	43/656	9513171	1,13005	2203	4300	6503	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9513171G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.128G>A	18.37:g.9513171G>A	ENSP00000019317:p.Arg43His					RALBP1_ENST00000383432.3_Missense_Mutation_p.R43H	p.R43H			Q15311	RBP1_HUMAN			2	351	+			43					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.128G>A	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800218	0.70567	0.0	1.16E-4	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	T;T	0.11930	2.73;2.73	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.12817	0.0311	L	0.29908	0.895	0.80722	D	1	B	0.29766	0.256	B	0.24701	0.055	T	0.06285	-1.0835	10	0.48119	T	0.1	-10.9518	18.8686	0.92303	0.0:0.0:1.0:0.0	.	43	Q15311	RBP1_HUMAN	H	43	ENSP00000019317:R43H;ENSP00000372924:R43H	ENSP00000019317:R43H	R	+	2	0	RALBP1	9503171	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	9.499000	0.97975	2.520000	0.84964	0.462000	0.41574	CGC		0.542	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		55	251	0	0	0	1	0	55	251					A	9513171	G	A	9513171	3	1	79	1	0	0	0	0	1	0	0	0	13062	1087	38	1	130	1	RALBP1	18	9513171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153172	9513171	68564077	17926	28243											
RALBP1	10928	broad.mit.edu	37	chr18	9535870	9535870	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaagcagctaaagagcagCcaaaggcaggcaaggagccg	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9535870C>T	ENST00000019317.4	+	10	2126	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S			Q15311	RBP1_HUMAN	ralA binding protein 1	635					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TAAAGAGCAGCCAAAGGCAGG	0.657																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(1903-1905)Cca>Tca		ralA binding protein 1							21	23	22					18																	9535870		2199	4296	6495	SO:0001583	missense	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9535870C>T	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1903C>T	18.37:g.9535870C>T	ENSP00000019317:p.Pro635Ser					RALBP1_ENST00000383432.3_Missense_Mutation_p.P635S	p.P635S			Q15311	RBP1_HUMAN			10	2126	+			635					D3DUI0	Missense_Mutation	SNP	ENST00000019317.4	37	c.1903C>T	CCDS11845.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489420	0.64074	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09445	2.98;2.98	4.0	4.0	0.46444	.	0.314786	0.27922	N	0.017318	T	0.12475	0.0303	L	0.43152	1.355	0.46749	D	0.999188	B	0.23058	0.079	B	0.21917	0.037	T	0.07731	-1.0757	10	0.59425	D	0.04	-9.5647	16.4737	0.84125	0.0:1.0:0.0:0.0	.	635	Q15311	RBP1_HUMAN	S	635	ENSP00000019317:P635S;ENSP00000372924:P635S	ENSP00000019317:P635S	P	+	1	0	RALBP1	9525870	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.200000	0.58433	1.940000	0.56252	0.561000	0.74099	CCA		0.657	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		34	123	0	0	0	1	0	34	123					T	9535870	C	T	9535870	3	4	79	1	0	0	0	0	1	0	0	0	13062	739	26	2	1937	2	RALBP1	18	9535870	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22699	9535870	68541378	17927	28244											
PPP4R1	9989	broad.mit.edu	37	chr18	9559502	9559502	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggccacaccagggaggCtatatgcacagtgcttagca	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9559502C>T	ENST00000400556.3	-	14	2016	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	648					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						ACCAGGGAGGCTATATGCACA	0.488																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1942-1944)aGc>aAc		protein phosphatase 4, regulatory subunit 1							174	160	164					18																	9559502		2014	4193	6207	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559502C>T	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.1943G>A	18.37:g.9559502C>T	ENSP00000383402:p.Ser648Asn					PPP4R1_ENST00000400555.3_Missense_Mutation_p.S631N	p.S648N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			14	2016	-			648					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1943G>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555564	0.65425	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.33216	1.42;1.42	5.57	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.133058	0.64402	D	0.000003	T	0.38374	0.1038	L	0.43923	1.385	0.53005	D	0.999968	B;D;B	0.54047	0.356;0.964;0.318	B;P;B	0.52031	0.057;0.688;0.122	T	0.08868	-1.0701	9	.	.	.	-13.2938	15.6966	0.77506	0.1379:0.8621:0.0:0.0	.	631;648;631	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	648;631	ENSP00000383402:S648N;ENSP00000383401:S631N	.	S	-	2	0	PPP4R1	9549502	1.000000	0.71417	0.980000	0.43619	0.692000	0.40212	7.487000	0.81328	1.316000	0.45131	0.650000	0.86243	AGC		0.488	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		136	587	0	0	0	1	0	136	587					T	9559502	C	T	9559502	3	4	79	1	0	0	0	0	1	0	0	0	12450	797	28	2	937	2	PPP4R1	18	9559502	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23632	9559502	68517746	17928	28245											
PPP4R1	9989	broad.mit.edu	37	chr18	9570435	9570435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctctggtcgtaacatagaTttgtagttaccaggtttttt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9570435T>G	ENST00000400556.3	-	11	1366	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	431					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						GTAACATAGATTTGTAGTTAC	0.418																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1291-1293)aaA>aaC		protein phosphatase 4, regulatory subunit 1							92	88	89					18																	9570435		1857	4085	5942	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570435T>G	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.1293A>C	18.37:g.9570435T>G	ENSP00000383402:p.Lys431Asn					PPP4R1_ENST00000400555.3_Missense_Mutation_p.K414N	p.K431N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			11	1366	-			431					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1293A>C	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636570	0.29068	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.19394	2.15;2.15	5.52	-1.54	0.08584	Armadillo-type fold (1);	1.051530	0.07338	N	0.880217	T	0.09024	0.0223	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.37079	-0.9721	9	.	.	.	-2.9067	0.4872	0.00558	0.1767:0.2291:0.2082:0.386	.	414;431;414	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	N	431;414;342	ENSP00000383402:K431N;ENSP00000383401:K414N	.	K	-	3	2	PPP4R1	9560435	0.000000	0.05858	0.001000	0.08648	0.572000	0.35998	0.382000	0.20635	0.014000	0.14944	0.482000	0.46254	AAA		0.418	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		91	426	0	0	0	1	0	91	426					G	9570435	T	G	9570435	3	3	79	1	0	0	0	0	1	0	0	0	12450	1490	52	4	1599	4	PPP4R1	18	9570435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10933	9570435	68506813	17929	28246											
TXNDC2	84203	broad.mit.edu	37	chr18	9886595	9886595	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtacagaaagctcatTactagtcctgtccagcaacg	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9886595T>C	ENST00000306084.6	+	2	318	c.119T>C	c.(118-120)tTa>tCa	p.L40S	TXNDC2_ENST00000357775.5_5'UTR|TXNDC2_ENST00000536353.2_5'UTR|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	40					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						GAAAGCTCATTACTAGTCCTG	0.398																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(118-120)tTa>tCa		thioredoxin domain containing 2 (spermatozoa)							50	50	50					18																	9886595		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886595T>C	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.119T>C	18.37:g.9886595T>C	ENSP00000304908:p.Leu40Ser					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_5'UTR|TXNDC2_ENST00000584255.1_Missense_Mutation_p.Y58H|TXNDC2_ENST00000536353.2_5'UTR	p.L40S	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	318	+			40					A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.119T>C	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.261827	0.23051	.	.	ENSG00000168454	ENST00000306084;ENST00000426718	T	0.16897	2.31	3.99	2.8	0.32819	.	.	.	.	.	T	0.17704	0.0425	L	0.32530	0.975	0.09310	N	0.999997	D	0.62365	0.991	P	0.51297	0.665	T	0.08827	-1.0703	8	.	.	.	-4.0932	6.4832	0.22075	0.0:0.1115:0.0:0.8885	.	40	Q86VQ3	TXND2_HUMAN	S	40	ENSP00000304908:L40S	.	L	+	2	0	TXNDC2	9876595	0.041000	0.20044	0.027000	0.17364	0.031000	0.12232	1.945000	0.40273	0.859000	0.35456	0.460000	0.39030	TTA		0.398	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			52	215	0	0	0	1	0	52	215					C	9886595	T	C	9886595	3	2	79	1	0	0	0	0	1	0	0	0	16851	1764	61	4	125	4	TXNDC2	18	9886595	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	316160	9886595	68190653	17930	28247											
TXNDC2	84203	broad.mit.edu	37	chr18	9887884	9887884	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggaggccggggagaggCtggtggctgtggacttctcg	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	ENST00000306084.6	+	2	1607	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	TXNDC2_ENST00000357775.5_Silent_p.L403L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	470	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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						CGGGGAGAGGCTGGTGGCTGT	0.572																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1408-1410)Ctg>Ttg		thioredoxin domain containing 2 (spermatozoa)							66	53	58					18																	9887884		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887884C>T	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.1408C>T	18.37:g.9887884C>T						TXNDC2_ENST00000357775.4_Silent_p.L403L|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR	p.L470L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1607	+			470			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1408C>T	CCDS42414.1																																																																																				0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			48	155	0	0	0	1	0	48	155					T	9887884	C	T	9887884	2	4	79	1	0	0	0	0	0	0	0	1	16851	796	28	2		2	TXNDC2	18	9887884	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	9887884	68189364	17931	28248											
TXNDC2	84203	broad.mit.edu	37	chr18	9888089	9888089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaggtggatgaactttGcggcgcccttaaggaaaaac	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	ENST00000306084.6	+	2	1812	c.1613G>A	c.(1612-1614)tGc>tAc	p.C538Y	TXNDC2_ENST00000357775.5_Missense_Mutation_p.C471Y|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	538	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				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						GATGAACTTTGCGGCGCCCTT	0.418																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1612-1614)tGc>tAc		thioredoxin domain containing 2 (spermatozoa)							34	36	35					18																	9888089		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9888089G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1613G>A	18.37:g.9888089G>A	ENSP00000304908:p.Cys538Tyr					TXNDC2_ENST00000357775.4_Missense_Mutation_p.C471Y|TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR	p.C538Y	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1812	+			538			Thioredoxin.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.1613G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325117	0.24080	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.13420	2.59;2.59	3.92	0.99	0.19807	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.609210	0.17247	N	0.181337	T	0.14830	0.0358	N	0.08118	0	0.47009	D	0.999282	D	0.71674	0.998	D	0.68943	0.961	T	0.06752	-1.0809	9	.	.	.	-0.0356	11.862	0.52471	0.0:0.595:0.405:0.0	.	538	Q86VQ3	TXND2_HUMAN	Y	336;471;538;523	ENSP00000350419:C471Y;ENSP00000304908:C538Y	.	C	+	2	0	TXNDC2	9878089	0.872000	0.30054	0.681000	0.30009	0.169000	0.22640	0.403000	0.20982	0.193000	0.20303	-0.310000	0.09108	TGC		0.418	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			23	133	0	0	0	1	0	23	133					A	9888089	G	A	9888089	3	1	79	1	0	0	0	0	1	0	0	0	16851	1319	46	2	1619	2	TXNDC2	18	9888089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205	9888089	68189159	17932	28249											
APCDD1	147495	broad.mit.edu	37	chr18	10471563	10471563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagagttcatcacaagGtcctacagattctaccacaa	7	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	ENST00000355285.5	+	3	633	c.279G>A	c.(277-279)agG>agA	p.R93R	APCDD1_ENST00000578882.1_Silent_p.R93R	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)		TCATCACAAGGTCCTACAGAT	0.458																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(277-279)agG>agA		adenomatosis polyposis coli down-regulated 1							90	86	87					18																	10471563		2203	4300	6503	SO:0001819	synonymous_variant	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471563G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.279G>A	18.37:g.10471563G>A						APCDD1_ENST00000578882.1_Silent_p.R93R	p.R93R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	633	+			93						Silent	SNP	ENST00000355285.5	37	c.279G>A	CCDS11849.1																																																																																				0.458	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		58	265	0	0	0	1	0	58	265					A	10471563	G	A	10471563	2	1	79	1	0	0	0	0	0	0	0	1	765	1252	44	2		2	APCDD1	18	10471563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	583474	10471563	67605685	17933	28250											
FAM38B	63895	broad.mit.edu	37	chr18	10697835	10697835	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttttgcttaatactcaaAacactgcttcctttttgact	3	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10697835A>C	ENST00000503781.3	-	41	6398	c.6399T>G	c.(6397-6399)gtT>gtG	p.V2133V	PIEZO2_ENST00000580640.1_Silent_p.V2158V|PIEZO2_ENST00000538948.1_Silent_p.V90V|PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000302079.6_Silent_p.V2133V	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2133	Ser-rich.				cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TAATACTCAAAACACTGCTTC	0.393																																						ENST00000302079.6																			0											c.(6397-6399)gtT>gtG		piezo-type mechanosensitive ion channel component 2							112	105	108					18																	10697835		2202	4300	6502	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10697835A>C	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6399T>G	18.37:g.10697835A>C						PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000580640.1_Silent_p.V2158V|PIEZO2_ENST00000538948.1_Silent_p.V90V|PIEZO2_ENST00000503781.3_Silent_p.V2133V	p.V2133V			Q9H5I5	PIEZ2_HUMAN			41	6398	-			2133			Ser-rich.		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.6399T>G																																																																																					0.393	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		28	157	0	0	0	1	0	28	157					C	10697835	A	C	10697835	2	2	79	1	0	0	0	0	0	0	0	1	5580	1	1	4		4	FAM38B	18	10697835	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	226272	10697835	67379413	17934	28251											
MPPE1	65258	broad.mit.edu	37	chr18	11887014	11887014	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagcgccacgctgttgaCcatcacaaagctgaagcgga	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:11887014C>T	ENST00000588072.1	-	7	1801	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I|MPPE1_ENST00000592755.1_5'Flank|MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	194					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						ACGCTGTTGACCATCACAAAG	0.527																																						ENST00000588072.1																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(580-582)Gtc>Atc		metallophosphoesterase 1							48	47	47					18																	11887014		2203	4300	6503	SO:0001583	missense	65258				ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity	g.chr18:11887014C>T	BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.580G>A	18.37:g.11887014C>T	ENSP00000465894:p.Val194Ile					MPPE1_ENST00000344987.7_Missense_Mutation_p.V194I|MPPE1_ENST00000399978.2_Missense_Mutation_p.V194I|MPPE1_ENST00000317235.7_Missense_Mutation_p.V194I|MPPE1_ENST00000309976.9_Missense_Mutation_p.V194I	p.V194I	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN			7	1801	-			194					B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	ENST00000588072.1	37	c.580G>A	CCDS11853.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080787	0.36758	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.67523	2.3;2.3;2.3;-0.27;2.3	5.2	4.33	0.51752	Calcineurin-like phosphoesterase superfamily domain (1);	0.189358	0.45361	N	0.000364	T	0.67702	0.2921	L	0.42581	1.335	0.47862	D	0.999535	D;P;D;P;D;B	0.63880	0.993;0.521;0.99;0.708;0.987;0.391	P;B;P;B;P;B	0.60345	0.873;0.111;0.872;0.269;0.873;0.264	T	0.62872	-0.6762	10	0.17832	T	0.49	-8.2786	8.7735	0.34747	0.1489:0.7752:0.0:0.0759	.	194;194;97;194;194;194	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	I	194;194;97;194;194	ENSP00000327257:V194I;ENSP00000311200:V194I;ENSP00000312935:V97I;ENSP00000339423:V194I;ENSP00000382860:V194I	ENSP00000311200:V194I	V	-	1	0	MPPE1	11877014	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	2.348000	0.44045	1.189000	0.43028	-0.140000	0.14226	GTC		0.527	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254562.2	NM_023075		5	197	0	0	0	1	0	5	197					T	11887014	C	T	11887014	3	4	79	1	0	0	0	0	1	0	0	0	9781	507	18	2	630	2	MPPE1	18	11887014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1189179	11887014	66190234	17935	28252											
IMPA2	3613	broad.mit.edu	37	chr18	12014290	12014290	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggagtgatttaccactgCacagaggagcggctgtacac	12	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12014290C>T	ENST00000269159.3	+	5	650	c.408C>T	c.(406-408)tgC>tgT	p.C136C	IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	136					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTACCACTGCACAGAGGAGC	0.577																																						ENST00000269159.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12						c.(406-408)tgC>tgT		inositol(myo)-1(or 4)-monophosphatase 2	Lithium(DB01356)						38	36	37					18																	12014290		2203	4300	6503	SO:0001819	synonymous_variant	3613				inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr18:12014290C>T	AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.408C>T	18.37:g.12014290C>T						IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR	p.C136C	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN			5	650	+			136					B0YJ29|Q9UJT3	Silent	SNP	ENST00000269159.3	37	c.408C>T	CCDS11855.1																																																																																				0.577	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			29	178	0	0	0	1	0	29	178					T	12014290	C	T	12014290	2	4	79	1	0	0	0	0	0	0	0	1	7753	718	25	2		2	IMPA2	18	12014290	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127276	12014290	66062958	17936	28253											
CIDEA	1149	broad.mit.edu	37	chr18	12262855	12262855	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgggatcacagactaagCgagtcctgttcaccccgctc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12262855C>T	ENST00000320477.9	+	2	135	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	24					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						ACAGACTAAGCGAGTCCTGTT	0.502																																						ENST00000320477.9																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(70-72)Cga>Tga		cell death-inducing DFFA-like effector a							65	66	66					18																	12262855		2203	4300	6503	SO:0001587	stop_gained	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12262855C>T	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.70C>T	18.37:g.12262855C>T	ENSP00000320209:p.Arg24*					CIDEA_ENST00000521296.1_3'UTR	p.R24*	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN			2	135	+			24					B0YIY7|Q6UPR7	Nonsense_Mutation	SNP	ENST00000320477.9	37	c.70C>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262096	0.59431	.	.	ENSG00000176194	ENST00000320477	.	.	.	5.51	1.59	0.23543	.	1.472780	0.04843	N	0.440771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-6.8447	14.6318	0.68660	0.5299:0.4701:0.0:0.0	.	.	.	.	X	24	.	ENSP00000320209:R24X	R	+	1	2	CIDEA	12252855	0.005000	0.15991	0.002000	0.10522	0.344000	0.29017	0.786000	0.26844	0.394000	0.25230	0.655000	0.94253	CGA		0.502	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		82	399	0	0	0	1	0	82	399					T	12262855	C	T	12262855	4	4	79	1	0	0	0	0	0	1	0	0	3434	760	27	1	220	1	CIDEA	18	12262855	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248565	12262855	65814393	17937	28254											
CIDEA	1149	broad.mit.edu	37	chr18	12264367	12264367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggaggaagatggcaCcgtggtggacacagaagagt	18	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12264367C>T	ENST00000320477.9	+	3	310	c.245C>T	c.(244-246)aCc>aTc	p.T82I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	82	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						GAAGATGGCACCGTGGTGGAC	0.507																																						ENST00000320477.9																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(244-246)aCc>aTc		cell death-inducing DFFA-like effector a							162	132	142					18																	12264367		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12264367C>T	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.245C>T	18.37:g.12264367C>T	ENSP00000320209:p.Thr82Ile					CIDEA_ENST00000521296.1_3'UTR	p.T82I	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN			3	310	+			82			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.245C>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967822	0.92855	.	.	ENSG00000176194	ENST00000320477	T	0.61392	0.11	5.26	5.26	0.73747	Caspase-activated nuclease CIDE-N (3);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	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	0.86880	0.2041	10	0.87932	D	0	-27.0824	18.486	0.90830	0.0:1.0:0.0:0.0	.	116;82	Q8N5P9;O60543	.;CIDEA_HUMAN	I	82	ENSP00000320209:T82I	ENSP00000320209:T82I	T	+	2	0	CIDEA	12254367	1.000000	0.71417	0.894000	0.35097	0.990000	0.78478	6.885000	0.75606	2.455000	0.83008	0.484000	0.47621	ACC		0.507	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		51	253	0	0	0	1	0	51	253					T	12264367	C	T	12264367	3	4	79	1	0	0	0	0	1	0	0	0	3434	507	18	2	399	2	CIDEA	18	12264367	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1512	12264367	65812881	17938	28255											
TUBB6	84617	broad.mit.edu	37	chr18	12325894	12325894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggcctccaccttcatcgGcaacagcacggccatccagg	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12325894G>A	ENST00000317702.5	+	4	1340	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	369					'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)		ACCTTCATCGGCAACAGCACG	0.612																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(1105-1107)gGc>gAc		tubulin, beta 6 class V							163	147	152					18																	12325894		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325894G>A	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.1106G>A	18.37:g.12325894G>A	ENSP00000318697:p.Gly369Asp					TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron	p.G369D			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	1340	+			369					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.1106G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490287	0.64074	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.82433	-1.61	5.5	5.5	0.81552	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95881	0.8659	H	0.99675	4.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.97688	1.0177	10	0.87932	D	0	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	341;369	B4DP54;Q9BUF5	.;TBB6_HUMAN	D	369;297;341	ENSP00000318697:G369D	ENSP00000318697:G369D	G	+	2	0	TUBB6	12315894	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.666000	0.98612	2.758000	0.94735	0.563000	0.77884	GGC		0.612	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		222	932	0	0	0	1	0	222	932					A	12325894	G	A	12325894	3	1	79	1	0	0	0	0	1	0	0	0	16814	1203	42	2	1120	2	TUBB6	18	12325894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61527	12325894	65751354	17939	28256											
AFG3L2	10939	broad.mit.edu	37	chr18	12353089	12353089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctcttccttcccacCgcatcgatttcatcgatgaa	4	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12353089C>T	ENST00000269143.3	-	10	1464	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	411					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)	TCCTTCCCACCGCATCGATTT	0.527																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1231-1233)gcG>gcA		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						197	151	167					18																	12353089		2203	4300	6503	SO:0001819	synonymous_variant	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12353089C>T	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.1233G>A	18.37:g.12353089C>T							p.A411A	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			10	1464	-			411					Q6P1L0	Silent	SNP	ENST00000269143.3	37	c.1233G>A	CCDS11859.1																																																																																				0.527	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		108	507	0	0	0	1	0	108	507					T	12353089	C	T	12353089	2	4	79	1	0	0	0	0	0	0	0	1	360	639	23	1		1	AFG3L2	18	12353089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27195	12353089	65724159	17940	28257											
AFG3L2	10939	broad.mit.edu	37	chr18	12358738	12358738	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaattcacaaattccatgatCtctagcttggcctcctcaca	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12358738C>A	ENST00000269143.3	-	8	1188	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	319					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)	ATTCCATGATCTCTAGCTTGG	0.398																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(955-957)gaG>gaT		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						89	80	83					18																	12358738		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358738C>A	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.957G>T	18.37:g.12358738C>A	ENSP00000269143:p.Glu319Asp						p.E319D	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			8	1188	-			319					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.957G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179849	0.57800	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.57107	0.42	5.76	0.779	0.18550	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.80183	2.485	0.58432	D	0.999997	P	0.37864	0.61	B	0.36534	0.227	T	0.55398	-0.8147	10	0.87932	D	0	.	10.1341	0.42695	0.0:0.6623:0.0:0.3377	.	319	Q9Y4W6	AFG32_HUMAN	D	319;334	ENSP00000269143:E319D	ENSP00000269143:E319D	E	-	3	2	AFG3L2	12348738	0.998000	0.40836	0.988000	0.46212	0.984000	0.73092	0.611000	0.24268	0.069000	0.16605	0.655000	0.94253	GAG		0.398	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		66	238	1	0	2.18419e-29	1	2.55125e-29	66	238					A	12358738	C	A	12358738	3	1	79	1	0	0	0	0	1	0	0	0	360	912	32	3	1476	3	AFG3L2	18	12358738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5649	12358738	65718510	17941	28258											
AFG3L2	10939	broad.mit.edu	37	chr18	12367285	12367285	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcatcaaaccttctgaaacCtggaccaccagtgagaatca	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12367285C>A	ENST00000269143.3	-	4	620	c.389G>T	c.(388-390)aGg>aTg	p.R130M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	130					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)	CTTCTGAAACCTGGACCACCA	0.488																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(388-390)aGg>aTg		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						183	169	174					18																	12367285		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12367285C>A	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.389G>T	18.37:g.12367285C>A	ENSP00000269143:p.Arg130Met						p.R130M	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			4	620	-			130					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.389G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923707	0.92319	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93247	-3.19	5.72	5.72	0.89469	Peptidase M41, FtsH (1);	0.044203	0.85682	D	0.000000	D	0.95373	0.8498	M	0.75777	2.31	0.80722	D	1	D	0.56287	0.975	P	0.53593	0.73	D	0.94306	0.7541	10	0.38643	T	0.18	1.8025	19.4597	0.94912	0.0:1.0:0.0:0.0	.	130	Q9Y4W6	AFG32_HUMAN	M	130;145	ENSP00000269143:R130M	ENSP00000269143:R130M	R	-	2	0	AFG3L2	12357285	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.641000	0.74324	2.702000	0.92279	0.655000	0.94253	AGG		0.488	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		12	567	1	0	2.27111e-07	1	2.35674e-07	12	567					A	12367285	C	A	12367285	3	1	79	1	0	0	0	0	1	0	0	0	360	681	24	3	2060	3	AFG3L2	18	12367285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8547	12367285	65709963	17942	28259											
CEP76	79959	broad.mit.edu	37	chr18	12686292	12686292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaaaggccagcagagtgCaccactgctcctgtttacct	10	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12686292C>T	ENST00000262127.2	-	8	1316	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PSMG2_ENST00000589405.1_3'UTR|CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	364					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCAGAGTGCACCACTGCTC	0.408																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1090-1092)tGc>tAc		centrosomal protein 76kDa							93	86	88					18																	12686292		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12686292C>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1091G>A	18.37:g.12686292C>T	ENSP00000262127:p.Cys364Tyr					CEP76_ENST00000423709.2_Missense_Mutation_p.C289Y|RP11-973H7.2_ENST00000585331.1_RNA	p.C364Y	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			8	1316	-			364					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1091G>A	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329103	0.41197	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.80304	-1.36;-1.34	5.74	5.74	0.90152	.	0.086622	0.85682	D	0.000000	T	0.79941	0.4533	M	0.61703	1.905	0.58432	D	0.999999	P;P;P	0.47302	0.893;0.63;0.456	P;B;B	0.45310	0.476;0.142;0.188	T	0.76672	-0.2873	10	0.02654	T	1	-9.2993	19.9135	0.97033	0.0:1.0:0.0:0.0	.	289;364;186	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	Y	364;289	ENSP00000262127:C364Y;ENSP00000403074:C289Y	ENSP00000262127:C364Y	C	-	2	0	CEP76	12676292	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.006000	0.70724	2.711000	0.92665	0.591000	0.81541	TGC		0.408	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		59	300	0	0	0	1	0	59	300					T	12686292	C	T	12686292	3	4	79	1	0	0	0	0	1	0	0	0	3270	710	25	2	908	2	CEP76	18	12686292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	319007	12686292	65390956	17943	28260											
CEP76	79959	broad.mit.edu	37	chr18	12699159	12699159	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaagaaagcttttccaccCaaaacctgaaggtaaagata	6	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12699159C>T	ENST00000262127.2	-	4	564	c.339G>A	c.(337-339)ttG>ttA	p.L113L	CEP76_ENST00000586887.1_5'UTR|CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	113					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTCCACCCAAAACCTGAA	0.363																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(337-339)ttG>ttA		centrosomal protein 76kDa							102	100	101					18																	12699159		2203	4300	6503	SO:0001819	synonymous_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12699159C>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.339G>A	18.37:g.12699159C>T						CEP76_ENST00000423709.2_Intron|RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000586887.1_5'UTR	p.L113L	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			4	564	-			113					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Silent	SNP	ENST00000262127.2	37	c.339G>A	CCDS11861.1																																																																																				0.363	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		45	330	0	0	0	1	0	45	330					T	12699159	C	T	12699159	2	4	79	1	0	0	0	0	0	0	0	1	3270	593	21	2		2	CEP76	18	12699159	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12867	12699159	65378089	17944	28261											
PTPN2	5771	broad.mit.edu	37	chr18	12825835	12825835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttctaattgtagtagatGtactgtataatacgacttca	6	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12825835G>A	ENST00000309660.5	-	5	562	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y|PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	157	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)				TGTAGTAGATGTACTGTATAA	0.338																																						ENST00000309660.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(469-471)Cat>Tat		protein tyrosine phosphatase, non-receptor type 2							99	92	94					18																	12825835		2203	4299	6502	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12825835G>A	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.469C>T	18.37:g.12825835G>A	ENSP00000311857:p.His157Tyr					PTPN2_ENST00000353319.4_Missense_Mutation_p.H157Y|PTPN2_ENST00000327283.3_Missense_Mutation_p.H157Y|PTPN2_ENST00000591497.1_Missense_Mutation_p.H128Y|PTPN2_ENST00000591115.1_Missense_Mutation_p.H157Y	p.H157Y	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN			5	562	-		Lung NSC(161;8.94e-06)	157			Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.469C>T	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304357	0.60305	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83075	-1.68;-1.68;-1.68	4.38	4.38	0.52667	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.48286	D	0.000185	D	0.84074	0.5392	N	0.17312	0.475	0.39042	D	0.960154	P;P;B;D;P	0.64830	0.755;0.712;0.268;0.994;0.755	P;P;B;D;P	0.67548	0.649;0.517;0.432;0.952;0.649	D	0.88039	0.2780	10	0.87932	D	0	.	17.5512	0.87876	0.0:0.0:1.0:0.0	.	157;157;134;157;157	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	Y	157;157;134;157	ENSP00000320298:H157Y;ENSP00000320546:H157Y;ENSP00000311857:H157Y	ENSP00000311857:H157Y	H	-	1	0	PTPN2	12815835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.597000	0.61062	2.424000	0.82194	0.558000	0.71614	CAT		0.338	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		10	270	0	0	0	1	0	10	270					A	12825835	G	A	12825835	3	1	79	1	0	0	0	0	1	0	0	0	12833	1377	48	2	824	2	PTPN2	18	12825835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126676	12825835	65251413	17945	28262											
SEH1L	81929	broad.mit.edu	37	chr18	12955494	12955494	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtatggcgtgtgacatgGgcccatcctgaatttgggca	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12955494G>A	ENST00000262124.11	+	3	322	c.195G>A	c.(193-195)tgG>tgA	p.W65*	SEH1L_ENST00000399892.2_Nonsense_Mutation_p.W65*	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	65					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						GTGTGACATGGGCCCATCCTG	0.413																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(193-195)tgG>tgA		SEH1-like (S. cerevisiae)							183	162	169					18																	12955494		2203	4300	6503	SO:0001587	stop_gained	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12955494G>A	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.195G>A	18.37:g.12955494G>A	ENSP00000262124:p.Trp65*					SEH1L_ENST00000399892.2_Nonsense_Mutation_p.W65*	p.W65*	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			3	322	+			65					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Nonsense_Mutation	SNP	ENST00000262124.11	37	c.195G>A	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	38	6.828804	0.97869	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2401	19.6097	0.95600	0.0:0.0:1.0:0.0	.	.	.	.	X	65	.	ENSP00000262124:W65X	W	+	3	0	SEH1L	12945494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.376000	0.97181	2.630000	0.89119	0.591000	0.81541	TGG		0.413	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		96	418	0	0	0	1	0	96	418					A	12955494	G	A	12955494	4	1	79	1	0	0	0	0	0	1	0	0	14059	1241	43	2	205	2	SEH1L	18	12955494	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129659	12955494	65121754	17946	28263											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	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																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	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						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		12	276						12	276	---	---	---	---	-	12986929	TCC	-	12986927	6	5	79	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	31433	12986927	65090321	17947	28264											
CEP192	55125	broad.mit.edu	37	chr18	13059253	13059253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgagaccatcgtacaggCagaagctttggccagcaccg	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059253C>T	ENST00000325971.8	+	19	4235	c.2642C>T	c.(2641-2643)gCa>gTa	p.A881V	CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V|CEP192_ENST00000506447.1_Missense_Mutation_p.A1477V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	881					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCGTACAGGCAGAAGCTTTG	0.453																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4429-4431)gCa>gTa		centrosomal protein 192kDa							158	146	150					18																	13059253		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13059253C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2642C>T	18.37:g.13059253C>T	ENSP00000317156:p.Ala881Val					CEP192_ENST00000325971.8_Missense_Mutation_p.A881V|CEP192_ENST00000430049.2_Missense_Mutation_p.A1002V	p.A1477V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			21	4510	+			1072					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4430C>T		.	.	.	.	.	.	.	.	.	.	C	17.27	3.348313	0.61183	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80033	-1.33;-1.33;-1.33	5.08	5.08	0.68730	.	0.061993	0.64402	D	0.000005	D	0.88355	0.6414	M	0.65498	2.005	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.989;0.998	P;P;D	0.65233	0.874;0.879;0.933	D	0.89379	0.3680	10	0.72032	D	0.01	-16.2963	18.8382	0.92171	0.0:1.0:0.0:0.0	.	1002;1477;881	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	V	1477;881;881;1002	ENSP00000427550:A1477V;ENSP00000317156:A881V;ENSP00000389190:A1002V	ENSP00000317156:A881V	A	+	2	0	CEP192	13049253	1.000000	0.71417	0.365000	0.25901	0.011000	0.07611	7.223000	0.78033	2.520000	0.84964	0.591000	0.81541	GCA		0.453	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		109	452	0	0	0	1	0	109	452					T	13059253	C	T	13059253	3	4	79	1	0	0	0	0	1	0	0	0	3260	710	25	2	4508	2	CEP192	18	13059253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72326	13059253	65017995	17948	28265											
CEP192	55125	broad.mit.edu	37	chr18	13059273	13059273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagctttggccagcaccGtcactctcactgccattgcc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059273G>A	ENST00000325971.8	+	19	4255	c.2662G>A	c.(2662-2664)Gtc>Atc	p.V888I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1484I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	888					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.V888I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCAGCACCGTCACTCTCAC	0.458																																						ENST00000506447.1																			1	Substitution - Missense(1)	p.V888I(1)	ovary(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4450-4452)Gtc>Atc		centrosomal protein 192kDa							148	136	140					18																	13059273		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13059273G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2662G>A	18.37:g.13059273G>A	ENSP00000317156:p.Val888Ile					CEP192_ENST00000325971.8_Missense_Mutation_p.V888I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1009I	p.V1484I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			21	4530	+			1079					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4450G>A		.	.	.	.	.	.	.	.	.	.	G	18.33	3.601079	0.66332	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.80653	-1.4;-1.4;-1.4	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000001	D	0.89760	0.6808	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.962;0.996	D	0.90832	0.4717	10	0.87932	D	0	-15.641	18.8382	0.92171	0.0:0.0:1.0:0.0	.	1009;1484;888	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	I	1484;888;888;1009	ENSP00000427550:V1484I;ENSP00000317156:V888I;ENSP00000389190:V1009I	ENSP00000317156:V888I	V	+	1	0	CEP192	13049273	1.000000	0.71417	0.586000	0.28679	0.022000	0.10575	9.136000	0.94489	2.520000	0.84964	0.591000	0.81541	GTC		0.458	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		86	424	0	0	0	1	0	86	424					A	13059273	G	A	13059273	3	1	79	1	0	0	0	0	1	0	0	0	3260	1145	40	1	4528	1	CEP192	18	13059273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	13059273	65017975	17949	28266											
CEP192	55125	broad.mit.edu	37	chr18	13068922	13068922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcccaaaccctacgcccGttcttagaagtgtgagtctc	8	14	2	2	rs142781329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13068922G>A	ENST00000325971.8	+	23	4699	c.3106G>A	c.(3106-3108)Gtt>Att	p.V1036I	CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I|CEP192_ENST00000506447.1_Missense_Mutation_p.V1632I			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1036					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCTACGCCCGTTCTTAGAAG	0.473																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4894-4896)Gtt>Att		centrosomal protein 192kDa		G	ILE/VAL	0,4406		0,0,2203	116	115	115		4894	2	0	18	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP192	NM_032142.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1632/2538	13068922	1,13005	2203	4300	6503	SO:0001583	missense	55125							g.chr18:13068922G>A	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3106G>A	18.37:g.13068922G>A	ENSP00000317156:p.Val1036Ile					CEP192_ENST00000325971.8_Missense_Mutation_p.V1036I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1157I	p.V1632I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			25	4974	+			1227					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4894G>A		.	.	.	.	.	.	.	.	.	.	G	7.910	0.736223	0.15574	0.0	1.16E-4	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.58060	0.36;0.36;0.36	5.77	2.03	0.26663	.	0.287772	0.32852	N	0.005567	T	0.31231	0.0790	L	0.38175	1.15	0.24190	N	0.995551	P;P;B	0.44627	0.725;0.839;0.108	B;B;B	0.31946	0.073;0.138;0.029	T	0.23691	-1.0181	10	0.14252	T	0.57	-3.5773	9.756	0.40504	0.3947:0.0:0.6053:0.0	.	1157;1632;234	C9JT09;E9PF99;Q9HCK3	.;.;.	I	1632;1036;1036;1157	ENSP00000427550:V1632I;ENSP00000317156:V1036I;ENSP00000389190:V1157I	ENSP00000317156:V1036I	V	+	1	0	CEP192	13058922	0.936000	0.31750	0.027000	0.17364	0.003000	0.03518	1.456000	0.35201	0.472000	0.27344	-0.749000	0.03505	GTT		0.473	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		113	456	0	0	0	1	0	113	456					A	13068922	G	A	13068922	3	1	79	1	0	0	0	0	1	0	0	0	3260	1145	40	1	4988	1	CEP192	18	13068922	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9649	13068922	65008326	17950	28267											
C18orf1	753	broad.mit.edu	37	chr18	13387753	13387753	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttttcaggccacaaatgCtttcacaggtgagcatgctc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13387753C>A	ENST00000359446.5	+	2	500	c.32C>A	c.(31-33)gCt>gAt	p.A11D	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.A11D|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.A11D	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	11					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										GCCACAAATGCTTTCACAGGT	0.577																																						ENST00000361205.4																			0											c.(31-33)gCt>gAt		low density lipoprotein receptor class A domain containing 4							148	123	131					18																	13387753		2203	4300	6503	SO:0001583	missense	753							g.chr18:13387753C>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.32C>A	18.37:g.13387753C>A	ENSP00000352420:p.Ala11Asp					LDLRAD4_ENST00000359446.5_Missense_Mutation_p.A11D|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.A11D	p.A11D	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					3	700	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.32C>A	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821178	0.50633	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	T;T	0.27557	1.68;1.66	4.93	4.93	0.64822	.	0.266496	0.28671	N	0.014536	T	0.25121	0.0610	N	0.14661	0.345	0.80722	D	1	B;P	0.36065	0.354;0.535	B;B	0.39805	0.31;0.164	T	0.10359	-1.0633	10	0.45353	T	0.12	-0.5824	18.1459	0.89655	0.0:1.0:0.0:0.0	.	11;11	O15165-2;O15165	.;CR001_HUMAN	D	11	ENSP00000354753:A11D;ENSP00000382741:A11D	ENSP00000354753:A11D	A	+	2	0	C18orf1	13377753	1.000000	0.71417	0.999000	0.59377	0.400000	0.30750	5.706000	0.68362	2.299000	0.77371	0.591000	0.81541	GCT		0.577	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		87	337	1	0	1.3521e-30	1	1.58719e-30	87	337					A	13387753	C	A	13387753	3	1	79	1	0	0	0	0	1	0	0	0	1901	797	28	3	34	3	C18orf1	18	13387753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	318831	13387753	64689495	17951	28268											
MC5R	4161	broad.mit.edu	37	chr18	13826258	13826258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggggccatcatcgccgGcatctgggctttctgcacgg	13	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13826258G>A	ENST00000324750.3	+	1	716	c.494G>A	c.(493-495)gGc>gAc	p.G165D	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	165					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATCGCCGGCATCTGGGCT	0.567																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(493-495)gGc>gAc		melanocortin 5 receptor							268	243	252					18																	13826258		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826258G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.494G>A	18.37:g.13826258G>A	ENSP00000318077:p.Gly165Asp						p.G165D	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	716	+			165					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.494G>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944955	0.34283	.	.	ENSG00000176136	ENST00000324750	T	0.39787	1.06	5.01	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.150554	0.64402	D	0.000011	T	0.52075	0.1712	M	0.81341	2.54	0.33894	D	0.637674	P	0.44006	0.824	P	0.46299	0.511	T	0.69154	-0.5220	10	0.87932	D	0	.	12.9262	0.58262	0.0:0.0:0.705:0.295	.	165	P33032	MC5R_HUMAN	D	165	ENSP00000318077:G165D	ENSP00000318077:G165D	G	+	2	0	MC5R	13816258	1.000000	0.71417	0.488000	0.27440	0.041000	0.13682	5.258000	0.65479	0.459000	0.27016	0.455000	0.32223	GGC		0.567	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		409	1639	0	0	0	1	0	409	1639					A	13826258	G	A	13826258	3	1	79	1	0	0	0	0	1	0	0	0	9408	1203	42	2	496	2	MC5R	18	13826258	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	438505	13826258	64250990	17952	28269											
MC2R	4158	broad.mit.edu	37	chr18	13884791	13884791	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggttacttgggcagaatgTcatcaagaggacatgaagca	14	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884791T>C	ENST00000327606.3	-	2	907	c.727A>G	c.(727-729)Aca>Gca	p.T243A		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	243					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGGCAGAATGTCATCAAGAGG	0.532																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(727-729)Aca>Gca		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						82	75	77					18																	13884791		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884791T>C		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.727A>G	18.37:g.13884791T>C	ENSP00000333821:p.Thr243Ala						p.T243A	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	907	-			243					A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.727A>G	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013816	0.54468	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.35789	1.29	5.18	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.206931	0.49916	D	0.000128	T	0.25938	0.0632	N	0.25144	0.715	0.26256	N	0.978658	P	0.39424	0.673	B	0.40702	0.338	T	0.10730	-1.0617	10	0.66056	D	0.02	.	8.1081	0.30898	0.0:0.1569:0.0:0.8431	.	243	Q01718	ACTHR_HUMAN	A	243	ENSP00000333821:T243A	ENSP00000333821:T243A	T	-	1	0	MC2R	13874791	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	3.002000	0.49496	0.806000	0.34183	0.533000	0.62120	ACA		0.532	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			51	277	0	0	0	1	0	51	277					C	13884791	T	C	13884791	3	2	79	1	0	0	0	0	1	0	0	0	9405	1667	58	4	170	4	MC2R	18	13884791	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	58533	13884791	64192457	17953	28270											
MC2R	4158	broad.mit.edu	37	chr18	13884825	13884825	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagcacaaagggggcccaGcagaagatgaagaccccgag	14	10	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884825G>T	ENST00000327606.3	-	2	873	c.693C>A	c.(691-693)tgC>tgA	p.C231*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	231					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGGGGCCCAGCAGAAGATGA	0.557																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(691-693)tgC>tgA		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						75	67	70					18																	13884825		2203	4300	6503	SO:0001587	stop_gained	0				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884825G>T		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.693C>A	18.37:g.13884825G>T	ENSP00000333821:p.Cys231*						p.C231*	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	873	-			231					A8K016|Q3MI45|Q504X6	Nonsense_Mutation	SNP	ENST00000327606.3	37	c.693C>A	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843803	0.91197	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	.	.	.	5.18	-7.84	0.01196	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.112	0.93319	0.3369:0.0:0.6631:0.0	.	.	.	.	X	231	.	ENSP00000333821:C231X	C	-	3	2	MC2R	13874825	0.045000	0.20229	0.881000	0.34555	0.989000	0.77384	-0.731000	0.04909	-1.429000	0.01987	-0.302000	0.09304	TGC		0.557	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			48	230	1	0	1.76056e-25	1	2.02043e-25	48	230					T	13884825	G	T	13884825	4	4	79	1	0	0	0	0	0	1	0	0	9405	963	34	3	204	3	MC2R	18	13884825	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	13884825	64192423	17954	28271											
ZNF519	162655	broad.mit.edu	37	chr18	14105441	14105441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccggtatggattctctgGtgttgagtaaggtatgaccc	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14105441G>A	ENST00000590202.1	-	3	1250	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	366					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						GGATTCTCTGGTGTTGAGTAA	0.423																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1096-1098)caC>caT		zinc finger protein 519							121	123	123					18																	14105441		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105441G>A	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.1098C>T	18.37:g.14105441G>A						ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	p.H366H	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1250	-			366						Silent	SNP	ENST00000590202.1	37	c.1098C>T	CCDS32797.1																																																																																				0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		114	544	0	0	0	1	0	114	544					A	14105441	G	A	14105441	2	1	79	1	0	0	0	0	0	0	0	1	18017	1252	44	2		2	ZNF519	18	14105441	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220616	14105441	63971807	17955	28272											
ANKRD30B	374860	broad.mit.edu	37	chr18	14848795	14848795	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaaagataactgtgaaCaaattacagcaaaaatggaa	6	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14848795C>T	ENST00000358984.4	+	34	3085	c.2905C>T	c.(2905-2907)Caa>Taa	p.Q969*		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	969										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAACTGTGAACAAATTACAGC	0.343																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(2905-2907)Caa>Taa		ankyrin repeat domain 30B							62	45	50					18																	14848795		692	1588	2280	SO:0001587	stop_gained	374860							g.chr18:14848795C>T	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.2905C>T	18.37:g.14848795C>T	ENSP00000351875:p.Gln969*						p.Q969*	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			34	3085	+			1054					B4DGP1|F8WAG3|Q4G175	Nonsense_Mutation	SNP	ENST00000358984.4	37	c.2905C>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387873	0.82902	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	.	.	.	1.48	-0.472	0.12115	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5363	0.17013	0.0:0.6482:0.0:0.3518	.	.	.	.	X	969;363;389	.	ENSP00000277669:Q389X	Q	+	1	0	ANKRD30B	14838795	0.014000	0.17966	0.001000	0.08648	0.018000	0.09664	0.339000	0.19875	-0.165000	0.10908	0.173000	0.16961	CAA		0.343	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	45	0	0	0	1	0	5	45					T	14848795	C	T	14848795	4	4	79	1	0	0	0	0	0	1	0	0	659	479	17	2	3039	2	ANKRD30B	18	14848795	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	743354	14848795	63228453	17956	28273											
ROCK1	6093	broad.mit.edu	37	chr18	18588085	18588085	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctttggtactcattaattCtatgctgtagcaacattttc	5	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	ENST00000399799.2	-	14	2421	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	494	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCATTAATTCTATGCTGTAG	0.313																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1480-1482)aGa>aTa		Rho-associated, coiled-coil containing protein kinase 1							140	120	127					18																	18588085		2201	4296	6497	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18588085C>A		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.1481G>T	18.37:g.18588085C>A	ENSP00000382697:p.Arg494Ile						p.R494I	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			14	2421	-	Melanoma(1;0.165)		494			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1481G>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450332	0.84101	.	.	ENSG00000067900	ENST00000399799	D	0.82619	-1.63	5.46	3.69	0.42338	.	0.055889	0.64402	D	0.000001	T	0.79551	0.4465	L	0.47716	1.5	0.58432	D	0.999997	B	0.28178	0.202	B	0.36335	0.222	T	0.76740	-0.2848	10	0.62326	D	0.03	.	10.0434	0.42173	0.0:0.7669:0.0:0.2331	.	494	Q13464	ROCK1_HUMAN	I	494	ENSP00000382697:R494I	ENSP00000382697:R494I	R	-	2	0	ROCK1	16842083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.180000	0.58296	0.872000	0.35775	0.591000	0.81541	AGA		0.313	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		32	149	1	0	1.7881e-09	1	1.88299e-09	32	149					A	18588085	C	A	18588085	3	1	79	1	0	0	0	0	1	0	0	0	13567	913	32	3	2663	3	ROCK1	18	18588085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3739290	18588085	59489163	17957	28274											
ROCK1	6093	broad.mit.edu	37	chr18	18622107	18622107	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttttgcttcttttgatatgtCattatcatcaggaaaggtaa	7	5	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18622107C>T	ENST00000399799.2	-	8	1850	c.910G>A	c.(910-912)Gac>Aac	p.D304N		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	304	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTGATATGTCATTATCATCA	0.313																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(910-912)Gac>Aac		Rho-associated, coiled-coil containing protein kinase 1							80	81	81					18																	18622107		2202	4294	6496	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18622107C>T		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.910G>A	18.37:g.18622107C>T	ENSP00000382697:p.Asp304Asn						p.D304N	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			8	1850	-	Melanoma(1;0.165)		304			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.910G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819112	0.90873	.	.	ENSG00000067900	ENST00000399799	T	0.65178	-0.14	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048434	0.85682	D	0.000000	T	0.44222	0.1283	N	0.03891	-0.335	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.42899	-0.9424	10	0.87932	D	0	.	19.2789	0.94044	0.0:1.0:0.0:0.0	.	304	Q13464	ROCK1_HUMAN	N	304	ENSP00000382697:D304N	ENSP00000382697:D304N	D	-	1	0	ROCK1	16876105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.774000	0.95407	0.655000	0.94253	GAC		0.313	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		15	406	0	0	0	1	0	15	406					T	18622107	C	T	18622107	3	4	79	1	0	0	0	0	1	0	0	0	13567	826	29	2	3258	2	ROCK1	18	18622107	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34022	18622107	59455141	17958	28275											
ESCO1	114799	broad.mit.edu	37	chr18	19144199	19144199	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcatcagttttctctgcttCttttagtttcaagtcctttg	5	9	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19144199C>A	ENST00000269214.5	-	7	2723	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	596					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCTCTGCTTCTTTTAGTTTC	0.313																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1786-1788)Gaa>Taa		establishment of sister chromatid cohesion N-acetyltransferase 1							111	103	105					18																	19144199		2203	4299	6502	SO:0001587	stop_gained	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19144199C>A	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1786G>T	18.37:g.19144199C>A	ENSP00000269214:p.Glu596*						p.E596*	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			7	2723	-			596					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Nonsense_Mutation	SNP	ENST00000269214.5	37	c.1786G>T	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	C	47	13.135262	0.99722	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	.	.	.	4.92	4.92	0.64577	.	0.348404	0.30193	N	0.010188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-6.8435	17.4868	0.87691	0.0:1.0:0.0:0.0	.	.	.	.	X	596	.	ENSP00000269214:E596X	E	-	1	0	ESCO1	17398197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.708000	0.61859	2.456000	0.83038	0.655000	0.94253	GAA		0.313	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		15	70	1	0	1.15088e-07	1	1.19614e-07	15	70					A	19144199	C	A	19144199	4	1	79	1	0	0	0	0	0	1	0	0	5266	922	32	3	760	3	ESCO1	18	19144199	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	522092	19144199	58933049	17959	28276											
ESCO1	114799	broad.mit.edu	37	chr18	19147945	19147945	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atttccaaagtattacctggAaatttattctctcctgtatc	4	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19147945A>C	ENST00000269214.5	-	5	2578	c.1641T>G	c.(1639-1641)ttT>ttG	p.F547L		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	547					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTACCTGGAAATTTATTCT	0.328																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1639-1641)ttT>ttG		establishment of sister chromatid cohesion N-acetyltransferase 1							72	72	72					18																	19147945		2202	4300	6502	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19147945A>C	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1641T>G	18.37:g.19147945A>C	ENSP00000269214:p.Phe547Leu						p.F547L	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			5	2578	-			547					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.1641T>G	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055098	0.36277	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.57436	0.4;1.96	5.6	5.6	0.85130	.	0.289111	0.30695	N	0.009075	T	0.46580	0.1400	L	0.57536	1.79	0.31686	N	0.642527	B	0.06786	0.001	B	0.04013	0.001	T	0.50524	-0.8818	10	0.24483	T	0.36	-5.9452	10.3972	0.44207	0.8546:0.0:0.0:0.1454	.	547	Q5FWF5	ESCO1_HUMAN	L	547	ENSP00000269214:F547L;ENSP00000372763:F547L	ENSP00000269214:F547L	F	-	3	2	ESCO1	17401943	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.733000	0.47360	2.260000	0.74910	0.528000	0.53228	TTT		0.328	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		85	298	0	0	0	1	0	85	298					C	19147945	A	C	19147945	3	2	79	1	0	0	0	0	1	0	0	0	5266	243	9	4	913	4	ESCO1	18	19147945	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3746	19147945	58929303	17960	28277											
ESCO1	114799	broad.mit.edu	37	chr18	19154572	19154572	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaatggatttagtagctTtatcattagatgctgccttt	7	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154572T>G	ENST00000269214.5	-	4	1170	c.233A>C	c.(232-234)aAa>aCa	p.K78T		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	78					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTTAGTAGCTTTATCATTAGA	0.323																																						ENST00000269214.5																			0				breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(232-234)aAa>aCa		establishment of sister chromatid cohesion N-acetyltransferase 1							164	172	169					18																	19154572		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154572T>G	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.233A>C	18.37:g.19154572T>G	ENSP00000269214:p.Lys78Thr						p.K78T	NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN			4	1170	-			78					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.233A>C	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470443	0.04445	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.61510	0.1;1.66	5.73	3.32	0.38043	.	0.327087	0.28778	N	0.014166	T	0.41880	0.1178	L	0.40543	1.245	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.21930	-1.0231	10	0.17369	T	0.5	-5.9998	6.6306	0.22855	0.1365:0.0721:0.0:0.7914	.	78	Q5FWF5	ESCO1_HUMAN	T	78	ENSP00000269214:K78T;ENSP00000372763:K78T	ENSP00000269214:K78T	K	-	2	0	ESCO1	17408570	0.998000	0.40836	0.005000	0.12908	0.039000	0.13416	1.947000	0.40293	0.515000	0.28320	0.533000	0.62120	AAA		0.323	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		205	815	0	0	0	1	0	205	815					G	19154572	T	G	19154572	3	3	79	1	0	0	0	0	1	0	0	0	5266	1841	64	4	2325	4	ESCO1	18	19154572	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6627	19154572	58922676	17961	28278											
ABHD3	171586	broad.mit.edu	37	chr18	19283700	19283700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctcacccccggtcactaaCtggggtttctgaagggaaaa	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19283700C>T	ENST00000289119.2	-	2	310	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ABHD3_ENST00000580981.1_Silent_p.Q57Q|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	57						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						CGGTCACTAACTGGGGTTTCT	0.562																																						ENST00000289119.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(169-171)caG>caA		abhydrolase domain containing 3							52	52	52					18																	19283700		2203	4300	6503	SO:0001819	synonymous_variant	171586					integral to membrane	carboxylesterase activity	g.chr18:19283700C>T	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.171G>A	18.37:g.19283700C>T						ABHD3_ENST00000580981.1_Silent_p.Q57Q|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	p.Q57Q	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN			2	310	-			57					B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	c.171G>A	CCDS32802.1																																																																																				0.562	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			38	224	0	0	0	1	0	38	224					T	19283700	C	T	19283700	2	4	79	1	0	0	0	0	0	0	0	1	83	564	20	2		2	ABHD3	18	19283700	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	129128	19283700	58793548	17962	28279											
MIB1	57534	broad.mit.edu	37	chr18	19437203	19437203	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagatgccactgatgatatCtgtaagtcgattgtcttaag	10	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	ENST00000261537.6	+	19	3042	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	926					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGATGATATCTGTAAGTCGA	0.383																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.e19+1		mindbomb E3 ubiquitin protein ligase 1							232	180	198					18																	19437203		2203	4300	6503	SO:0001630	splice_region_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19437203C>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2779+1C>T	18.37:g.19437203C>T						MIB1_ENST00000578646.1_3'UTR	p.I926_splice	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		19	3042	+			926					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Splice_Site	SNP	ENST00000261537.6	37	c.2779_splice	CCDS11871.1																																																																																				0.383	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	Silent	39	182	0	0	0	1	0	39	182					T	19437203	C	T	19437203	5	4	79	1	0	0	0	0	0	0	1	0	9607	927	32	2	2852	2	MIB1	18	19437203	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153503	19437203	58640045	17963	28280											
RBBP8	5932	broad.mit.edu	37	chr18	20573396	20573396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagggcttttcctcaagcCgtaaggcctcagatggcaac	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20573396C>T	ENST00000399722.2	+	11	1957	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	536	Damage-recruitment motif.				blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCCTCAAGCCGTAAGGCCTC	0.468								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1606-1608)Cgt>Tgt	Homologous recombination	retinoblastoma binding protein 8							39	41	41					18																	20573396		2202	4299	6501	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20573396C>T	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1606C>T	18.37:g.20573396C>T	ENSP00000382628:p.Arg536Cys					RBBP8_ENST00000399725.2_Missense_Mutation_p.R536C|RBBP8_ENST00000360790.5_Missense_Mutation_p.R536C|RBBP8_ENST00000327155.5_Missense_Mutation_p.R536C	p.R536C	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1957	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		536					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.1606C>T	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	9.149	1.015832	0.19355	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.34667	1.38;1.35;1.38;1.37;1.38	5.97	2.82	0.32997	.	0.620350	0.16787	N	0.199531	T	0.33147	0.0853	L	0.55481	1.735	0.40353	D	0.979157	B;B;B	0.19817	0.018;0.014;0.039	B;B;B	0.10450	0.005;0.002;0.005	T	0.25502	-1.0130	10	0.87932	D	0	-0.5355	10.2979	0.43635	0.0:0.7571:0.0:0.2429	.	536;536;536	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	C	536	ENSP00000323050:R536C;ENSP00000382630:R536C;ENSP00000382628:R536C;ENSP00000382627:R536C;ENSP00000354024:R536C	ENSP00000323050:R536C	R	+	1	0	RBBP8	18827394	0.002000	0.14202	0.674000	0.29902	0.466000	0.32739	0.826000	0.27407	0.864000	0.35578	0.655000	0.94253	CGT		0.468	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		54	215	0	0	0	1	0	54	215					T	20573396	C	T	20573396	3	4	79	1	0	0	0	0	1	0	0	0	13155	652	23	1	1644	1	RBBP8	18	20573396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1136193	20573396	57503852	17964	28281											
CABLES1	91768	broad.mit.edu	37	chr18	20716380	20716380	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgcctttatcagcgtgcaGgtgccggcggccgccttttt	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20716380G>T	ENST00000256925.7	+	1	654	c.654G>T	c.(652-654)caG>caT	p.Q218H	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	218	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAGCGTGCAGGTGCCGGCGG	0.701																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(652-654)caG>caT		Cdk5 and Abl enzyme substrate 1							14	18	17					18																	20716380		1902	4096	5998	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716380G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.654G>T	18.37:g.20716380G>T	ENSP00000256925:p.Gln218His					CABLES1_ENST00000400473.2_Intron	p.Q218H	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			1	654	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		218			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.654G>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262652	0.39995	.	.	ENSG00000134508	ENST00000256925	T	0.50277	0.75	3.54	1.59	0.23543	.	0.350198	0.29707	N	0.011403	T	0.30386	0.0763	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05818	-1.0862	10	0.29301	T	0.29	-0.8505	10.6056	0.45392	0.0:0.3801:0.6199:0.0	.	218	Q8TDN4	CABL1_HUMAN	H	218	ENSP00000256925:Q218H	ENSP00000256925:Q218H	Q	+	3	2	CABLES1	18970378	0.996000	0.38824	1.000000	0.80357	0.746000	0.42486	0.386000	0.20702	0.264000	0.21851	0.456000	0.33151	CAG		0.701	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		13	68	1	0	1.5842e-08	1	1.65642e-08	13	68					T	20716380	G	T	20716380	3	4	79	1	0	0	0	0	1	0	0	0	2536	991	35	3	656	3	CABLES1	18	20716380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142984	20716380	57360868	17965	28282											
CABLES1	91768	broad.mit.edu	37	chr18	20815979	20815979	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaccgcagcctctccataGgccgggcaagcggcacccag	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20815979G>T	ENST00000256925.7	+	6	1306	c.1306G>T	c.(1306-1308)Ggc>Tgc	p.G436C	CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	436	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTCCATAGGCCGGGCAAG	0.597																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(1306-1308)Ggc>Tgc		Cdk5 and Abl enzyme substrate 1							59	66	64					18																	20815979		1918	4119	6037	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20815979G>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1306G>T	18.37:g.20815979G>T	ENSP00000256925:p.Gly436Cys					CABLES1_ENST00000420687.2_Missense_Mutation_p.G171C|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.G109C|TMEM241_ENST00000450466.2_Intron	p.G436C	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			6	1306	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		436			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.1306G>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682669	0.88542	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.46819	0.92;0.86;0.9	4.94	4.94	0.65067	.	0.099785	0.64402	D	0.000002	T	0.63698	0.2533	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.991;1.0	P;D	0.76575	0.823;0.988	T	0.65455	-0.6164	10	0.62326	D	0.03	-14.8556	18.3672	0.90396	0.0:0.0:1.0:0.0	.	171;436	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	C	109;436;171	ENSP00000383321:G109C;ENSP00000256925:G436C;ENSP00000413851:G171C	ENSP00000256925:G436C	G	+	1	0	CABLES1	19069977	1.000000	0.71417	0.423000	0.26634	0.849000	0.48306	9.386000	0.97228	2.571000	0.86741	0.655000	0.94253	GGC		0.597	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		18	632	1	0	4.35082e-09	1	4.56966e-09	18	632					T	20815979	G	T	20815979	3	4	79	1	0	0	0	0	1	0	0	0	2536	1000	35	3	1382	3	CABLES1	18	20815979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99599	20815979	57261269	17966	28283											
RIOK3	8780	broad.mit.edu	37	chr18	21053554	21053554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatccacgtaagatcatccGcatgtgggcagaaaaagaaa	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21053554G>A	ENST00000339486.3	+	8	1594	c.977G>A	c.(976-978)cGc>cAc	p.R326H	RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	326	Protein kinase.				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)					AAGATCATCCGCATGTGGGCA	0.323																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(976-978)cGc>cAc		RIO kinase 3							60	56	58					18																	21053554		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21053554G>A	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.977G>A	18.37:g.21053554G>A	ENSP00000341874:p.Arg326His					RIOK3_ENST00000581585.1_Missense_Mutation_p.R310H|RIOK3_ENST00000577501.1_Missense_Mutation_p.R326H	p.R326H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			8	1594	+	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)		326			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.977G>A	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282646	0.59867	.	.	ENSG00000101782	ENST00000339486	T	0.07567	3.18	5.05	5.05	0.67936	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.07143	0.0181	L	0.35288	1.05	0.80722	D	1	P;P;P	0.44260	0.55;0.796;0.83	B;B;B	0.30943	0.084;0.074;0.122	T	0.32079	-0.9920	10	0.41790	T	0.15	.	18.4658	0.90753	0.0:0.0:1.0:0.0	.	310;326;326	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	H	326	ENSP00000341874:R326H	ENSP00000341874:R326H	R	+	2	0	RIOK3	19307552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.941000	0.87700	2.350000	0.79820	0.579000	0.79373	CGC		0.323	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		38	144	0	0	0	1	0	38	144					A	21053554	G	A	21053554	3	1	79	1	0	0	0	0	1	0	0	0	13429	1087	38	1	1007	1	RIOK3	18	21053554	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237575	21053554	57023694	17967	28284											
RIOK3	8780	broad.mit.edu	37	chr18	21057190	21057190	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagaacctacccaccctcaCggcctggagttcttgttccg	9	15	2	1	rs56187215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21057190C>T	ENST00000339486.3	+	11	1919	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				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)					CCCACCCTCACGGCCTGGAGT	0.413																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(1300-1302)caC>caT		RIO kinase 3							156	138	144					18																	21057190		2203	4300	6503	SO:0001819	synonymous_variant	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21057190C>T	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.1302C>T	18.37:g.21057190C>T						RIOK3_ENST00000581585.1_Silent_p.H418H|RIOK3_ENST00000577501.1_Silent_p.H434H	p.H434H	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			11	1919	+	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)		434			Protein kinase.		Q8IXN9	Silent	SNP	ENST00000339486.3	37	c.1302C>T	CCDS11877.1																																																																																				0.413	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		101	385	0	0	0	1	0	101	385					T	21057190	C	T	21057190	2	4	79	1	0	0	0	0	0	0	0	1	13429	535	19	1		1	RIOK3	18	21057190	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3636	21057190	57020058	17968	28285											
C18orf8	29919	broad.mit.edu	37	chr18	21083650	21083650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcgagaaggcgaaccctgTcaactgcgtcttcttcgatg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21083650T>C	ENST00000269221.3	+	1	178	c.68T>C	c.(67-69)gTc>gCc	p.V23A	C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	23						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)					GCGAACCCTGTCAACTGCGTC	0.741																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(67-69)gTc>gCc		chromosome 18 open reading frame 8							45	46	46					18																	21083650		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21083650T>C	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.68T>C	18.37:g.21083650T>C	ENSP00000269221:p.Val23Ala					C18orf8_ENST00000590868.1_Missense_Mutation_p.V23A	p.V23A	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			1	178	+	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)		23					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.68T>C	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980534	0.74474	.	.	ENSG00000141452	ENST00000269221;ENST00000540942	T	0.15834	2.39	4.54	3.39	0.38822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.60455	1.87	0.58432	D	0.999999	B;B	0.24721	0.067;0.11	B;B	0.17433	0.008;0.018	T	0.03619	-1.1019	10	0.07644	T	0.81	-28.803	9.3776	0.38292	0.0:0.0858:0.0:0.9142	.	23;23	Q96DM3;F5H2W0	MIC1_HUMAN;.	A	23	ENSP00000269221:V23A	ENSP00000269221:V23A	V	+	2	0	C18orf8	19337648	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.103000	0.64578	1.675000	0.50919	0.460000	0.39030	GTC		0.741	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		57	306	0	0	0	1	0	57	306					C	21083650	T	C	21083650	3	2	79	1	0	0	0	0	1	0	0	0	1914	1667	58	4	70	4	C18orf8	18	21083650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26460	21083650	56993598	17969	28286											
C18orf8	29919	broad.mit.edu	37	chr18	21084355	21084355	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgctgttcgatctggTggagctactggcgtggtagt	15	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21084355T>C	ENST00000269221.3	+	2	233	c.123T>C	c.(121-123)ggT>ggC	p.G41G	C18orf8_ENST00000590868.1_Silent_p.G41G	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	41						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)					TTCGATCTGGTGGAGCTACTG	0.433																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(121-123)ggT>ggC		chromosome 18 open reading frame 8							217	191	200					18																	21084355		2203	4300	6503	SO:0001819	synonymous_variant	29919							g.chr18:21084355T>C	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.123T>C	18.37:g.21084355T>C						C18orf8_ENST00000590868.1_Silent_p.G41G	p.G41G	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			2	233	+	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)		41					Q9BU17|Q9Y5M0	Silent	SNP	ENST00000269221.3	37	c.123T>C	CCDS32803.1																																																																																				0.433	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		108	503	0	0	0	1	0	108	503					C	21084355	T	C	21084355	2	2	79	1	0	0	0	0	0	0	0	1	1914	1683	59	4		4	C18orf8	18	21084355	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	705	21084355	56992893	17970	28287											
C18orf8	29919	broad.mit.edu	37	chr18	21106645	21106645	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacttgagcccatagtaaatCtcttaccagacaaaggaaga	7	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21106645C>A	ENST00000269221.3	+	13	1215	c.1105C>A	c.(1105-1107)Ctc>Atc	p.L369I	C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	369						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)					CATAGTAAATCTCTTACCAGA	0.428																																						ENST00000269221.3																			0				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(1105-1107)Ctc>Atc		chromosome 18 open reading frame 8							88	83	85					18																	21106645		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21106645C>A	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.1105C>A	18.37:g.21106645C>A	ENSP00000269221:p.Leu369Ile					C18orf8_ENST00000590868.1_Missense_Mutation_p.L321I	p.L369I	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			13	1215	+	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)		369					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.1105C>A	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574645	0.65878	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.61387	1.9	0.80722	D	1	P	0.45126	0.851	B	0.37550	0.253	T	0.46992	-0.9151	9	0.32370	T	0.25	-20.1358	11.832	0.52301	0.0:0.9194:0.0:0.0806	.	369	Q96DM3	MIC1_HUMAN	I	369;212;321;212	.	ENSP00000269221:L369I	L	+	1	0	C18orf8	19360643	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	4.630000	0.61297	2.407000	0.81776	0.655000	0.94253	CTC		0.428	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		31	344	1	0	1.06801e-11	1	1.14091e-11	31	344					A	21106645	C	A	21106645	3	1	79	1	0	0	0	0	1	0	0	0	1914	913	32	3	1155	3	C18orf8	18	21106645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22290	21106645	56970603	17971	28288											
NPC1	4864	broad.mit.edu	37	chr18	21116663	21116663	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatactcggtaggcactGccgttaatgcccatggtttc	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21116663G>A	ENST00000269228.5	-	21	3773	c.3219C>T	c.(3217-3219)ggC>ggT	p.G1073G	NPC1_ENST00000412552.2_Silent_p.G755G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1073					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)					GGTAGGCACTGCCGTTAATGC	0.527																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(3217-3219)ggC>ggT		Niemann-Pick disease, type C1							95	82	86					18																	21116663		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21116663G>A	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3219C>T	18.37:g.21116663G>A						NPC1_ENST00000412552.2_Silent_p.G755G	p.G1073G	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			21	3773	-	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)		1073					B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.3219C>T	CCDS11878.1																																																																																				0.527	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		5	170	0	0	0	1	0	5	170					A	21116663	G	A	21116663	2	1	79	1	0	0	0	0	0	0	0	1	10612	1306	46	2		2	NPC1	18	21116663	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10018	21116663	56960585	17972	28289											
NPC1	4864	broad.mit.edu	37	chr18	21121149	21121149	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagcacctctgacacaGcaaaagatgtctagccgatt	7	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21121149G>T	ENST00000269228.5	-	16	2951	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	799					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)					CTCTGACACAGCAAAAGATGT	0.443																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(2395-2397)tgC>tgA		Niemann-Pick disease, type C1							91	91	91					18																	21121149		2203	4300	6503	SO:0001587	stop_gained	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21121149G>T	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.2397C>A	18.37:g.21121149G>T	ENSP00000269228:p.Cys799*					NPC1_ENST00000412552.2_Nonsense_Mutation_p.C481*|NPC1_ENST00000540608.1_5'UTR	p.C799*	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			16	2951	-	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)		799					B4DET3|Q9P130	Nonsense_Mutation	SNP	ENST00000269228.5	37	c.2397C>A	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	G	38	7.037544	0.98021	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	.	.	.	5.89	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.0474	10.5037	0.44821	0.1421:0.0:0.8579:0.0	.	.	.	.	X	799;481;644	.	ENSP00000269228:C799X	C	-	3	2	NPC1	19375147	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.812000	0.47994	2.793000	0.96121	0.561000	0.74099	TGC		0.443	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		72	371	1	0	2.48295e-43	1	3.03066e-43	72	371					T	21121149	G	T	21121149	4	4	79	1	0	0	0	0	0	1	0	0	10612	963	34	3	1479	3	NPC1	18	21121149	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4486	21121149	56956099	17973	28290											
NPC1	4864	broad.mit.edu	37	chr18	21134834	21134834	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttaacacactcaaaaTggtgcagttcgtgttatacg	8	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21134834T>C	ENST00000269228.5	-	9	1995	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.I231V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	481					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)					ACACTCAAAATGGTGCAGTTC	0.448																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(1441-1443)Att>Gtt		Niemann-Pick disease, type C1							158	129	139					18																	21134834		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21134834T>C	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.1441A>G	18.37:g.21134834T>C	ENSP00000269228:p.Ile481Val					NPC1_ENST00000412552.2_Missense_Mutation_p.I231V|NPC1_ENST00000540608.1_5'UTR	p.I481V	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			9	1995	-	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)		481					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.1441A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081134	0.55753	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.81908	-1.55;-1.55	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	L	0.41573	1.285	0.41445	D	0.987945	B;B	0.31790	0.224;0.34	B;B	0.37091	0.07;0.241	T	0.72750	-0.4199	10	0.11485	T	0.65	-24.1019	14.7895	0.69830	0.0:0.0:0.0:1.0	.	492;481	Q59GR1;O15118	.;NPC1_HUMAN	V	481;231;326	ENSP00000269228:I481V;ENSP00000408606:I231V	ENSP00000269228:I481V	I	-	1	0	NPC1	19388832	1.000000	0.71417	0.980000	0.43619	0.981000	0.71138	4.056000	0.57448	1.945000	0.56424	0.533000	0.62120	ATT		0.448	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		46	195	0	0	0	1	0	46	195					C	21134834	T	C	21134834	3	2	79	1	0	0	0	0	1	0	0	0	10612	1464	51	4	2463	4	NPC1	18	21134834	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13685	21134834	56942414	17974	28291											
NPC1	4864	broad.mit.edu	37	chr18	21148813	21148813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaaactctgtccgacgtagTattgtaactctttcacattt	5	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21148813T>C	ENST00000269228.5	-	4	991	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	146					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)					TCCGACGTAGTATTGTAACTC	0.378																																						ENST00000269228.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38						c.(436-438)tAc>tGc		Niemann-Pick disease, type C1							174	159	164					18																	21148813		2203	4300	6503	SO:0001583	missense	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21148813T>C	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.437A>G	18.37:g.21148813T>C	ENSP00000269228:p.Tyr146Cys					NPC1_ENST00000540608.1_5'UTR	p.Y146C	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN			4	991	-	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)		146					B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	37	c.437A>G	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444146	0.63067	.	.	ENSG00000141458	ENST00000269228	D	0.91295	-2.82	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.82630	2.6	0.80722	D	1	P	0.40619	0.724	P	0.45195	0.473	D	0.93099	0.6507	10	0.52906	T	0.07	-33.6711	16.3798	0.83452	0.0:0.0:0.0:1.0	.	146	O15118	NPC1_HUMAN	C	146	ENSP00000269228:Y146C	ENSP00000269228:Y146C	Y	-	2	0	NPC1	19402811	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	7.846000	0.86887	2.271000	0.75665	0.533000	0.62120	TAC		0.378	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271		53	313	0	0	0	1	0	53	313					C	21148813	T	C	21148813	3	2	79	1	0	0	0	0	1	0	0	0	10612	1638	57	4	3487	4	NPC1	18	21148813	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13979	21148813	56928435	17975	28292											
LAMA3	3909	broad.mit.edu	37	chr18	21390456	21390456	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagcttatgatttccCccactgccaaggtaggaaag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21390456C>A	ENST00000313654.9	+	13	1971	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	577	Domain V.|Laminin EGF-like 5. {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)					TATGATTTCCCCCACTGCCAA	0.557																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1729-1731)cCc>cAc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89	99	95					18																	21390456		2008	4176	6184	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21390456C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1730C>A	18.37:g.21390456C>A	ENSP00000324532:p.Pro577His					LAMA3_ENST00000399516.3_Missense_Mutation_p.P577H	p.P577H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			13	1971	+	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)		577			Domain V.|Laminin EGF-like 5.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1730C>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510358	0.85389	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.62788	-0.0;-0.0	4.8	4.8	0.61643	EGF-like, laminin (4);	.	.	.	.	D	0.84502	0.5486	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88716	0.3226	9	0.72032	D	0.01	.	17.6374	0.88127	0.0:1.0:0.0:0.0	.	577;577	Q6VU67;Q16787	.;LAMA3_HUMAN	H	577;577;575	ENSP00000324532:P577H;ENSP00000382432:P577H	ENSP00000324532:P577H	P	+	2	0	LAMA3	19644454	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.925000	0.75829	2.516000	0.84829	0.561000	0.74099	CCC		0.557	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		9	389	1	0	0.000442599	1	0.000448314	9	389					A	21390456	C	A	21390456	3	1	79	1	0	0	0	0	1	0	0	0	8638	623	22	3	1780	3	LAMA3	18	21390456	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	241643	21390456	56686792	17976	28293											
LAMA3	3909	broad.mit.edu	37	chr18	21444821	21444822	+	Frame_Shift_Ins	INS	-	-	A													tggcgacatggttcttctggINSaaaagaagccggatgtacag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21444821_21444822insA	ENST00000313654.9	+	36	4898_4899	c.4657_4658insA	c.(4657-4659)gaafs	p.E1553fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.E1553fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1553	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)					GGTTCTTCTGGAAAAGAAGCCG	0.446																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(4657-4659)aaafs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21444821_21444822insA	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.4661dupA	18.37:g.21444825_21444825dupA	ENSP00000324532:p.Glu1553fs					LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.K1553fs	p.K1553fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			36	4898_4899	+	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)		1553			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	c.4657_4658insA	CCDS42419.1																																																																																				0.446	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		27	266						27	266	---	---	---	---	A	21444822	-	A	21444821	7	5	79	1	0	1	1	0	0	0	0	0	8638	1175	41	0	4799	0	LAMA3	18	21444821	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	54365	21444821	56632427	17977	28294											
LAMA3	3909	broad.mit.edu	37	chr18	21494442	21494442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctacaacctgggggaCcgtgaggctgaactccaagt	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21494442C>T	ENST00000313654.9	+	57	7639	c.7398C>T	c.(7396-7398)gaC>gaT	p.D2466D	LAMA3_ENST00000399516.3_Silent_p.D2410D|LAMA3_ENST00000587184.1_Silent_p.D801D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.D857D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2466	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCTGGGGGACCGTGAGGCTG	0.537																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7396-7398)gaC>gaT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						92	84	87					18																	21494442		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21494442C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7398C>T	18.37:g.21494442C>T						LAMA3_ENST00000399516.3_Silent_p.D2410D|LAMA3_ENST00000269217.6_Silent_p.D857D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D801D	p.D2466D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			57	7639	+	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)		2466			Laminin G-like 1.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.7398C>T	CCDS42419.1																																																																																				0.537	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		48	221	0	0	0	1	0	48	221					T	21494442	C	T	21494442	2	4	79	1	0	0	0	0	0	0	0	1	8638	506	18	2		2	LAMA3	18	21494442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49621	21494442	56582806	17978	28295											
LAMA3	3909	broad.mit.edu	37	chr18	21496608	21496608	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccatcccaacctttggacaGacaattcagaccaccgtgga	7	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21496608G>T	ENST00000313654.9	+	60	8113	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2624	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCTTTGGACAGACAATTCAGA	0.428																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7870-7872)caG>caT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						172	147	155					18																	21496608		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21496608G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7872G>T	18.37:g.21496608G>T	ENSP00000324532:p.Gln2624His					LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2568H|LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1015H|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q959H	p.Q2624H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			60	8113	+	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)		2624			Laminin G-like 2.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7872G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391060	0.62066	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79033	-1.23;-1.23;-1.23	5.76	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.82121	0.4968	M	0.65975	2.015	0.37623	D	0.921377	D;D;D;D	0.71674	0.965;0.965;0.992;0.998	P;P;P;P	0.58391	0.708;0.708;0.789;0.838	T	0.82168	-0.0591	9	0.66056	D	0.02	.	9.6372	0.39817	0.3361:0.0:0.6639:0.0	.	959;1015;2568;2624	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	H	2624;2568;1015	ENSP00000324532:Q2624H;ENSP00000382432:Q2568H;ENSP00000269217:Q1015H	ENSP00000269217:Q1015H	Q	+	3	2	LAMA3	19750606	0.990000	0.36364	0.056000	0.19401	0.835000	0.47333	1.937000	0.40193	0.098000	0.17522	-0.266000	0.10368	CAG		0.428	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		28	695	1	0	9.80776e-20	1	1.0954e-19	28	695					T	21496608	G	T	21496608	3	4	79	1	0	0	0	0	1	0	0	0	8638	933	33	3	8285	3	LAMA3	18	21496608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2166	21496608	56580640	17979	28296											
LAMA3	3909	broad.mit.edu	37	chr18	21519246	21519246	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtggcaagatgcttgCtcaccacttcccaagaccca	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21519246C>A	ENST00000313654.9	+	68	9163	c.8922C>A	c.(8920-8922)tgC>tgA	p.C2974*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2974					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)					AAGATGCTTGCTCACCACTTC	0.542																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8920-8922)tgC>tgA		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						155	149	151					18																	21519246		2203	4300	6503	SO:0001587	stop_gained	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21519246C>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8922C>A	18.37:g.21519246C>A	ENSP00000324532:p.Cys2974*					LAMA3_ENST00000399516.3_Nonsense_Mutation_p.C2918*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.C1365*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.C1309*	p.C2974*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			68	9163	+	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)		2974					B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.8922C>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	48	14.830680	0.99812	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.28	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8599	0.35251	0.1477:0.7671:0.0:0.0852	.	.	.	.	X	2974;2918;1365	.	ENSP00000269217:C1365X	C	+	3	2	LAMA3	19773244	0.399000	0.25287	0.187000	0.23214	0.067000	0.16453	0.313000	0.19415	0.728000	0.32382	-1.134000	0.01955	TGC		0.542	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		36	857	1	0	9.45814e-24	1	1.07742e-23	36	857					A	21519246	C	A	21519246	4	1	79	1	0	0	0	0	0	1	0	0	8638	805	28	3	9367	3	LAMA3	18	21519246	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22638	21519246	56558002	17980	28297											
LAMA3	3909	broad.mit.edu	37	chr18	21529773	21529773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcctgaagaactttcaGctggattcaaaacccttgta	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21529773G>A	ENST00000313654.9	+	71	9637	c.9396G>A	c.(9394-9396)caG>caA	p.Q3132Q	LAMA3_ENST00000399516.3_Silent_p.Q3076Q|LAMA3_ENST00000587184.1_Silent_p.Q1467Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Silent_p.Q1523Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3132	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGAACTTTCAGCTGGATTCAA	0.473																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(9394-9396)caG>caA		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						81	82	81					18																	21529773		2203	4300	6503	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21529773G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9396G>A	18.37:g.21529773G>A						LAMA3_ENST00000399516.3_Silent_p.Q3076Q|LAMA3_ENST00000269217.6_Silent_p.Q1523Q|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.Q1467Q	p.Q3132Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			71	9637	+	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)		3132			Laminin G-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.9396G>A	CCDS42419.1																																																																																				0.473	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		51	264	0	0	0	1	0	51	264					A	21529773	G	A	21529773	2	1	79	1	0	0	0	0	0	0	0	1	8638	962	34	2		2	LAMA3	18	21529773	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10527	21529773	56547475	17981	28298											
TTC39C	125488	broad.mit.edu	37	chr18	21660833	21660833	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acctgctgggttttcctggaGaccgcctacaggggctttct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21660833G>T	ENST00000317571.3	+	5	981	c.745G>T	c.(745-747)Gac>Tac	p.D249Y	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	249										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTCCTGGAGACCGCCTACA	0.478																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(745-747)Gac>Tac		tetratricopeptide repeat domain 39C							70	70	70					18																	21660833		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21660833G>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.745G>T	18.37:g.21660833G>T	ENSP00000323645:p.Asp249Tyr					TTC39C_ENST00000304621.6_Missense_Mutation_p.D188Y|RP11-403A21.3_ENST00000578443.1_RNA	p.D249Y	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			5	981	+			249					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.745G>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.703674	0.88924	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.73994	-0.3807	10	0.87932	D	0	-21.0511	20.023	0.97509	0.0:0.0:1.0:0.0	.	249	Q8N584	TT39C_HUMAN	Y	188;249	ENSP00000306598:D188Y;ENSP00000323645:D249Y	ENSP00000306598:D188Y	D	+	1	0	TTC39C	19914831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.733000	0.93635	0.552000	0.68991	GAC		0.478	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		8	260	1	0	0.0477658	1	0.0478703	8	260					T	21660833	G	T	21660833	3	4	79	1	0	0	0	0	1	0	0	0	16763	942	33	3	763	3	TTC39C	18	21660833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131060	21660833	56416415	17982	28299											
CABYR	26256	broad.mit.edu	37	chr18	21735930	21735930	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actactaccccaccctcatcAccacctccaacagctgtctc	2	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21735930A>G	ENST00000399496.3	+	4	630	c.465A>G	c.(463-465)tcA>tcG	p.S155S	CABYR_ENST00000327201.6_Silent_p.S57S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000399481.2_Silent_p.S57S|CABYR_ENST00000415309.2_Silent_p.S155S	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	155					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CACCCTCATCACCACCTCCAA	0.507																																						ENST00000399481.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(169-171)tcA>tcG		calcium binding tyrosine-(Y)-phosphorylation regulated							129	94	106					18																	21735930		2203	4300	6503	SO:0001819	synonymous_variant	26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21735930A>G	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399496.3:c.465A>G	18.37:g.21735930A>G						CABYR_ENST00000415309.2_Silent_p.S155S|CABYR_ENST00000399496.3_Silent_p.S155S|CABYR_ENST00000399499.1_Silent_p.S155S|CABYR_ENST00000581397.1_Silent_p.S155S|CABYR_ENST00000327201.6_Silent_p.S57S	p.S57S			O75952	CABYR_HUMAN			2	323	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		155					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Silent	SNP	ENST00000399496.3	37	c.171A>G	CCDS42420.1																																																																																				0.507	CABYR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090926.2	NM_153770		17	467	0	0	0	1	0	17	467					G	21735930	A	G	21735930	2	3	79	1	0	0	0	0	0	0	0	1	2543	146	6	4		4	CABYR	18	21735930	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75097	21735930	56341318	17983	28300											
OSBPL1A	114876	broad.mit.edu	37	chr18	21758017	21758017	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggttcctttgggttctgcttCtacactcttcccccagaatt	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21758017C>A	ENST00000319481.3	-	21	2259	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	685					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)					GGTTCTGCTTCTACACTCTTC	0.433																																						ENST00000319481.3																			0				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						c.(2053-2055)Gaa>Taa		oxysterol binding protein-like 1A							143	124	130					18																	21758017		2203	4300	6503	SO:0001587	stop_gained	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21758017C>A	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.2053G>T	18.37:g.21758017C>A	ENSP00000320291:p.Glu685*					OSBPL1A_ENST00000357041.4_Nonsense_Mutation_p.E303*|OSBPL1A_ENST00000399443.3_Nonsense_Mutation_p.E172*	p.E685*	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			21	2259	-	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)		685					B7Z7D3|Q9BZF5|Q9NW87	Nonsense_Mutation	SNP	ENST00000319481.3	37	c.2053G>T	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	43	9.889204	0.99288	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.2574	19.9857	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	X	685;172;303	.	ENSP00000320291:E685X	E	-	1	0	OSBPL1A	20012015	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.081000	0.71309	2.724000	0.93272	0.655000	0.94253	GAA		0.433	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		74	313	1	0	1.2582e-26	1	1.451e-26	74	313					A	21758017	C	A	21758017	4	1	79	1	0	0	0	0	0	1	0	0	11319	922	32	3	831	3	OSBPL1A	18	21758017	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22087	21758017	56319231	17984	28301											
OSBPL1A	114876	broad.mit.edu	37	chr18	21805159	21805159	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagggacctttcggactcgGaatctgtggcagagcaggtt	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21805159G>T	ENST00000319481.3	-	17	1654	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	483					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)					TTCGGACTCGGAATCTGTGGC	0.483																																						ENST00000319481.3																			0				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						c.(1447-1449)tCc>tAc		oxysterol binding protein-like 1A							67	60	63					18																	21805159		2203	4300	6503	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21805159G>T	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.1448C>A	18.37:g.21805159G>T	ENSP00000320291:p.Ser483Tyr					OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S101Y|OSBPL1A_ENST00000399443.3_5'UTR	p.S483Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			17	1654	-	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)		483					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.1448C>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832775	0.71258	.	.	ENSG00000141447	ENST00000319481;ENST00000357041	T;T	0.49720	0.77;0.82	5.98	5.11	0.69529	.	.	.	.	.	T	0.65491	0.2696	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.971	D;P	0.64042	0.921;0.641	T	0.66685	-0.5861	9	0.41790	T	0.15	-18.226	15.6561	0.77136	0.0:0.1364:0.8636:0.0	.	483;483	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	483;101	ENSP00000320291:S483Y;ENSP00000349545:S101Y	ENSP00000320291:S483Y	S	-	2	0	OSBPL1A	20059157	1.000000	0.71417	0.993000	0.49108	0.858000	0.48976	6.355000	0.73041	1.518000	0.48934	0.655000	0.94253	TCC		0.483	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		46	236	1	0	5.2432e-18	1	5.80754e-18	46	236					T	21805159	G	T	21805159	3	4	79	1	0	0	0	0	1	0	0	0	11319	1174	41	3	1452	3	OSBPL1A	18	21805159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47142	21805159	56272089	17985	28302											
IMPACT	55364	broad.mit.edu	37	chr18	22029853	22029853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattctgctaggaccagatcGctttaaacatatcaacaact	6	10	2	1	rs542157006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22029853G>A	ENST00000284202.4	+	10	971	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	277					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGACCAGATCGCTTTAAACAT	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001					ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.(829-831)cGc>cAc		impact RWD domain protein							133	117	122					18																	22029853		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22029853G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.830G>A	18.37:g.22029853G>A	ENSP00000284202:p.Arg277His						p.R277H	NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			10	971	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		277					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.830G>A	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574473	0.65878	.	.	ENSG00000154059	ENST00000284202	T	0.64260	-0.09	5.93	5.93	0.95920	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.92507	3.315	0.80722	D	1	D	0.60160	0.987	P	0.49085	0.6	D	0.84239	0.0471	10	0.87932	D	0	.	19.1136	0.93328	0.0:0.0:1.0:0.0	.	277	Q9P2X3	IMPCT_HUMAN	H	277	ENSP00000284202:R277H	ENSP00000284202:R277H	R	+	2	0	IMPACT	20283851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.250000	0.95477	2.810000	0.96702	0.655000	0.94253	CGC		0.378	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		73	313	0	0	0	1	0	73	313					A	22029853	G	A	22029853	3	1	79	1	0	0	0	0	1	0	0	0	7754	1087	38	1	868	1	IMPACT	18	22029853	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224694	22029853	56047395	17986	28303											
ZNF521	25925	broad.mit.edu	37	chr18	22804628	22804628	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaccatatggcaggccattgAtatcaagtttcaccagatct	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804628A>C	ENST00000361524.3	-	4	3402	c.3254T>G	c.(3253-3255)aTc>aGc	p.I1085S	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					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)					CAGGCCATTGATATCAAGTTT	0.537			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3253-3255)aTc>aGc		zinc finger protein 521							75	69	71					18																	22804628		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804628A>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3254T>G	18.37:g.22804628A>C	ENSP00000354794:p.Ile1085Ser					ZNF521_ENST00000584787.1_Missense_Mutation_p.I865S|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085S	p.I1085S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3402	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1085					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3254T>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626459	0.28978	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.02	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	N	0.19112	0.55	0.45806	D	0.998686	P	0.51449	0.945	P	0.45071	0.468	T	0.06734	-1.0810	10	0.48119	T	0.1	-35.3969	16.2652	0.82574	1.0:0.0:0.0:0.0	.	1085	Q96K83	ZN521_HUMAN	S	1085;1119;1085	ENSP00000354794:I1085S;ENSP00000382352:I1085S	ENSP00000354794:I1085S	I	-	2	0	ZNF521	21058626	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	2.241000	0.73720	0.528000	0.53228	ATC		0.537	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		12	406	0	0	0	1	0	12	406					C	22804628	A	C	22804628	3	2	79	1	0	0	0	0	1	0	0	0	18018	333	12	4	701	4	ZNF521	18	22804628	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	774775	22804628	55272620	17987	28304											
ZNF521	25925	broad.mit.edu	37	chr18	22804820	22804820	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcatgcacaccacgcagCgaaagcctgtcagggaattc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804820C>T	ENST00000361524.3	-	4	3210	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H|ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1021					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)					CACCACGCAGCGAAAGCCTGT	0.512			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3061-3063)cGc>cAc		zinc finger protein 521							76	65	69					18																	22804820		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804820C>T	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.3062G>A	18.37:g.22804820C>T	ENSP00000354794:p.Arg1021His					ZNF521_ENST00000584787.1_Missense_Mutation_p.R801H|ZNF521_ENST00000538137.2_Missense_Mutation_p.R1021H	p.R1021H	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3210	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1021					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3062G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463683	0.43736	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10192	2.9;2.9	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	L	0.27053	0.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.00449	-1.1732	10	0.56958	D	0.05	-45.0411	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1021	Q96K83	ZN521_HUMAN	H	1021;1055;1021	ENSP00000354794:R1021H;ENSP00000382352:R1021H	ENSP00000354794:R1021H	R	-	2	0	ZNF521	21058818	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGC		0.512	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		47	212	0	0	0	1	0	47	212					T	22804820	C	T	22804820	3	4	79	1	0	0	0	0	1	0	0	0	18018	768	27	1	893	1	ZNF521	18	22804820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	192	22804820	55272428	17988	28305											
ZNF521	25925	broad.mit.edu	37	chr18	22806342	22806342	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	catatagcaatggggacaaaAgaatgcattactatctttag	8	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806342A>C	ENST00000361524.3	-	4	1688	c.1540T>G	c.(1540-1542)Ttt>Gtt	p.F514V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V|ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	514					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)					TGGGGACAAAAGAATGCATTA	0.463			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1540-1542)Ttt>Gtt		zinc finger protein 521							80	83	82					18																	22806342		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806342A>C	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1540T>G	18.37:g.22806342A>C	ENSP00000354794:p.Phe514Val					ZNF521_ENST00000584787.1_Missense_Mutation_p.F294V|ZNF521_ENST00000538137.2_Missense_Mutation_p.F514V	p.F514V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1688	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		514					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1540T>G	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359577	0.24598	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.26660	1.72;1.72	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.34521	1.04	0.45108	D	0.998123	D	0.89917	1.0	D	0.91635	0.999	T	0.09228	-1.0684	10	0.30854	T	0.27	-22.3299	16.2847	0.82712	1.0:0.0:0.0:0.0	.	514	Q96K83	ZN521_HUMAN	V	514;548;514	ENSP00000354794:F514V;ENSP00000382352:F514V	ENSP00000354794:F514V	F	-	1	0	ZNF521	21060340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.242000	0.73789	0.528000	0.53228	TTT		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		71	294	0	0	0	1	0	71	294					C	22806342	A	C	22806342	3	2	79	1	0	0	0	0	1	0	0	0	18018	72	3	4	2415	4	ZNF521	18	22806342	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1522	22806342	55270906	17989	28306											
ZNF521	25925	broad.mit.edu	37	chr18	22806822	22806822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctggagtcgtactggacaCggaggtatagcccaccgtga	13	10	1	1	rs140504840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806822C>T	ENST00000361524.3	-	4	1208	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M|ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	354					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)					GTACTGGACACGGAGGTATAG	0.577			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1060-1062)Gtg>Atg		zinc finger protein 521		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	88	82	84		1060	6.2	1	18	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF521	NM_015461.2	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	354/1312	22806822	2,13004	2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806822C>T	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.1060G>A	18.37:g.22806822C>T	ENSP00000354794:p.Val354Met					ZNF521_ENST00000584787.1_Missense_Mutation_p.V134M|ZNF521_ENST00000538137.2_Missense_Mutation_p.V354M	p.V354M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1208	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		354					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1060G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376385	0.24857	2.27E-4	1.16E-4	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	N	0.01576	-0.805	0.40687	D	0.982362	P	0.35411	0.5	B	0.23150	0.044	T	0.55354	-0.8154	10	0.28530	T	0.3	-26.4043	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	354	Q96K83	ZN521_HUMAN	M	354;388;354	ENSP00000354794:V354M;ENSP00000382352:V354M	ENSP00000354794:V354M	V	-	1	0	ZNF521	21060820	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	5.743000	0.68655	2.941000	0.99782	0.655000	0.94253	GTG		0.577	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		83	274	0	0	0	1	0	83	274					T	22806822	C	T	22806822	3	4	79	1	0	0	0	0	1	0	0	0	18018	536	19	1	2895	1	ZNF521	18	22806822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	480	22806822	55270426	17990	28307											
ZNF521	25925	broad.mit.edu	37	chr18	22807139	22807139	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttcctcacactgactgCacttctgagtgtccttcatc	6	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22807139C>T	ENST00000361524.3	-	4	891	c.743G>A	c.(742-744)tGc>tAc	p.C248Y	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y|ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	248					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)					ACACTGACTGCACTTCTGAGT	0.547			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(742-744)tGc>tAc		zinc finger protein 521							139	114	122					18																	22807139		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807139C>T	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.743G>A	18.37:g.22807139C>T	ENSP00000354794:p.Cys248Tyr					ZNF521_ENST00000584787.1_Missense_Mutation_p.C28Y|ZNF521_ENST00000538137.2_Missense_Mutation_p.C248Y	p.C248Y	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	891	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		248					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.743G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546262	0.27652	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.16196	2.36;2.36	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.02560	-1.1141	10	0.72032	D	0.01	-23.4588	20.3248	0.98698	0.0:1.0:0.0:0.0	.	248	Q96K83	ZN521_HUMAN	Y	248;282;248	ENSP00000354794:C248Y;ENSP00000382352:C248Y	ENSP00000354794:C248Y	C	-	2	0	ZNF521	21061137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.818000	0.97014	0.655000	0.94253	TGC		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	407	0	0	0	1	0	14	407					T	22807139	C	T	22807139	3	4	79	1	0	0	0	0	1	0	0	0	18018	710	25	2	3212	2	ZNF521	18	22807139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	317	22807139	55270109	17991	28308											
ZNF521	25925	broad.mit.edu	37	chr18	22902012	22902012	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttgtgttctgtgatatcGctcagcgattcaaacacctg	8	10	4	1	rs185598321		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22902012G>A	ENST00000361524.3	-	3	328	c.180C>T	c.(178-180)agC>agT	p.S60S	ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	60					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)					CTGTGATATCGCTCAGCGATT	0.428			T	PAX5	ALL								g|||	1	0.000199681	0.0	0.0014	5008	,	,		18225	0.0		0.0	False		,,,				2504	0.0					ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(178-180)agC>agT		zinc finger protein 521		A		0,4406		0,0,2203	144	128	133		180	3.3	1	18		133	1,8599		0,1,4299	no	coding-synonymous	ZNF521	NM_015461.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		60/1312	22902012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22902012G>A	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.180C>T	18.37:g.22902012G>A						ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.S60S|ZNF521_ENST00000579111.1_5'UTR	p.S60S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			3	328	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		60					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.180C>T	CCDS32806.1																																																																																				0.428	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		88	433	0	0	0	1	0	88	433					A	22902012	G	A	22902012	2	1	79	1	0	0	0	0	0	0	0	1	18018	1078	38	1		1	ZNF521	18	22902012	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94873	22902012	55175236	17992	28309											
SS18	6760	broad.mit.edu	37	chr18	23612494	23612494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctggaccaccctgtgaagGacctgaaaataatgtacaca	8	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23612494G>A	ENST00000415083.2	-	10	1154	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	367	2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).			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)		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)					CCCTGTGAAGGACCTGAAAAT	0.453			T	"SSX1,  SSX2"	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"synovial sarcoma translocation, chromosome 18"			M	"SSX1,  SSX2"		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	0				endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(1099-1101)Cct>Tct		synovial sarcoma translocation, chromosome 18							130	113	119					18																	23612494		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23612494G>A	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.1099C>T	18.37:g.23612494G>A	ENSP00000414516:p.Pro367Ser					SS18_ENST00000539849.1_Missense_Mutation_p.P285S|SS18_ENST00000545952.1_Missense_Mutation_p.P284S|SS18_ENST00000542743.1_Missense_Mutation_p.P284S|SS18_ENST00000542420.2_Missense_Mutation_p.P344S|SS18_ENST00000269137.7_Missense_Mutation_p.P336S	p.P367S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			10	1154	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		367			2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).	B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.1099C>T	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259899	0.59321	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952;ENST00000539244	T;T;T;T;T	0.34072	1.41;1.4;1.44;1.38;1.44	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	L	0.47190	1.495	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.968;0.968	T	0.42816	-0.9429	10	0.28530	T	0.3	-3.721	18.4141	0.90562	0.0:0.0:1.0:0.0	.	284;336;367	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	S	370;367;336;344;284;285;284;82	ENSP00000269137:P336S;ENSP00000438066:P344S;ENSP00000444551:P284S;ENSP00000444647:P285S;ENSP00000443097:P284S	ENSP00000269137:P336S	P	-	1	0	SS18	21866492	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.420000	0.97426	2.419000	0.82065	0.467000	0.42956	CCT		0.453	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			60	342	0	0	0	1	0	60	342					A	23612494	G	A	23612494	3	1	79	1	0	0	0	0	1	0	0	0	15227	1174	41	2	165	2	SS18	18	23612494	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	710482	23612494	54464754	17993	28310											
TAF4B	6875	broad.mit.edu	37	chr18	23866093	23866093	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtccagtgggagcaaaagCtggagttgtgacacttcatt	13	7	1	1	rs200809831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866093C>A	ENST00000269142.5	+	7	2218	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D|TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	407					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GGAGCAAAAGCTGGAGTTGTG	0.478																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1219-1221)gCt>gAt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							82	81	81					18																	23866093		1942	4169	6111	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866093C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1220C>A	18.37:g.23866093C>A	ENSP00000269142:p.Ala407Asp					TAF4B_ENST00000578121.1_Missense_Mutation_p.A407D|TAF4B_ENST00000400466.2_Missense_Mutation_p.A407D	p.A407D	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	2218	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		407					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1220C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	11.25	1.584104	0.28268	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26223	1.75;1.82;1.75	5.7	4.78	0.61160	.	0.899725	0.09484	N	0.795943	T	0.17662	0.0424	N	0.19112	0.55	0.19300	N	0.999973	B;B	0.28128	0.201;0.079	B;B	0.26614	0.034;0.071	T	0.08046	-1.0741	10	0.12430	T	0.62	-0.3601	13.5144	0.61533	0.0:0.8297:0.1703:0.0	.	407;407	Q92750;A4PBF7	TAF4B_HUMAN;.	D	407	ENSP00000389365:A407D;ENSP00000269142:A407D;ENSP00000383314:A407D	ENSP00000269142:A407D	A	+	2	0	TAF4B	22120091	0.540000	0.26410	0.969000	0.41365	0.991000	0.79684	1.318000	0.33643	2.701000	0.92244	0.552000	0.68991	GCT		0.478	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		56	288	1	0	3.40343e-31	1	4.00304e-31	56	288					A	23866093	C	A	23866093	3	1	79	1	0	0	0	0	1	0	0	0	15579	797	28	3	1246	3	TAF4B	18	23866093	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253599	23866093	54211155	17994	28311											
TAF4B	6875	broad.mit.edu	37	chr18	23866330	23866330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcttccatctgtgaaacCtgttgtttcttctgctggga	9	9	4	1	rs528866087		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866330C>A	ENST00000269142.5	+	7	2455	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	486					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTGAAACCTGTTGTTTCT	0.483																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1456-1458)cCt>cAt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa																																				SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23866330C>A	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1457C>A	18.37:g.23866330C>A	ENSP00000269142:p.Pro486His					TAF4B_ENST00000578121.1_Missense_Mutation_p.P486H|TAF4B_ENST00000400466.2_Missense_Mutation_p.P486H	p.P486H	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	2455	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		486					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1457C>A	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	C	9.708	1.156372	0.21454	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.26067	1.76;1.79;1.76	5.28	4.4	0.53042	.	0.319646	0.29846	N	0.011058	T	0.30885	0.0779	L	0.32530	0.975	0.20821	N	0.999847	D;D	0.69078	0.997;0.983	P;P	0.55667	0.781;0.635	T	0.06552	-1.0820	10	0.66056	D	0.02	-3.3309	11.2792	0.49184	0.0:0.9146:0.0:0.0854	.	486;486	Q92750;A4PBF7	TAF4B_HUMAN;.	H	486	ENSP00000389365:P486H;ENSP00000269142:P486H;ENSP00000383314:P486H	ENSP00000269142:P486H	P	+	2	0	TAF4B	22120328	0.043000	0.20138	0.658000	0.29665	0.859000	0.49053	2.122000	0.41987	2.483000	0.83821	0.557000	0.71058	CCT		0.483	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		90	414	1	0	2.48941e-46	1	3.05722e-46	90	414					A	23866330	C	A	23866330	3	1	79	1	0	0	0	0	1	0	0	0	15579	681	24	3	1483	3	TAF4B	18	23866330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	237	23866330	54210918	17995	28312											
KCTD1	284252	broad.mit.edu	37	chr18	24039887	24039887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatataacaaagtgtaGtcctggaaaaaaaaaaggta	7	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24039887G>A	ENST00000408011.3	-	4	871	c.312C>T	c.(310-312)gaC>gaT	p.D104D	KCTD1_ENST00000317932.7_Silent_p.D104D|KCTD1_ENST00000417602.1_Silent_p.D712D|KCTD1_ENST00000579973.1_Silent_p.D104D|KCTD1_ENST00000580059.1_Silent_p.D104D	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	104					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACAAAGTGTAGTCCTGGAAAA	0.363																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(2134-2136)gaC>gaT		potassium channel tetramerization domain containing 1							65	67	67					18																	24039887		2203	4300	6503	SO:0001819	synonymous_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24039887G>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.312C>T	18.37:g.24039887G>A						KCTD1_ENST00000408011.3_Silent_p.D104D|KCTD1_ENST00000580059.1_Silent_p.D104D|KCTD1_ENST00000317932.7_Silent_p.D104D|KCTD1_ENST00000579973.1_Silent_p.D104D	p.D712D	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		4	2135	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		104					A8K1F5	Silent	SNP	ENST00000408011.3	37	c.2136C>T	CCDS11888.1																																																																																				0.363	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		15	571	0	0	0	1	0	15	571					A	24039887	G	A	24039887	2	1	79	1	0	0	0	0	0	0	0	1	8126	1020	36	2		2	KCTD1	18	24039887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173557	24039887	54037361	17996	28313											
KCTD1	284252	broad.mit.edu	37	chr18	24056620	24056620	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtaccatcaaaaagtcttccGattctgtgatagaaaagagg	9	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24056620G>A	ENST00000408011.3	-	3	727	c.168C>T	c.(166-168)atC>atT	p.I56I	KCTD1_ENST00000317932.7_Silent_p.I56I|KCTD1_ENST00000417602.1_Silent_p.I664I|KCTD1_ENST00000579973.1_Silent_p.I56I|KCTD1_ENST00000580059.1_Silent_p.I56I	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	56	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			AAAGTCTTCCGATTCTGTGAT	0.388																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(1990-1992)atC>atT		potassium channel tetramerization domain containing 1							85	73	77					18																	24056620		2203	4300	6503	SO:0001819	synonymous_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24056620G>A	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.168C>T	18.37:g.24056620G>A						KCTD1_ENST00000408011.3_Silent_p.I56I|KCTD1_ENST00000580059.1_Silent_p.I56I|KCTD1_ENST00000317932.7_Silent_p.I56I|KCTD1_ENST00000579973.1_Silent_p.I56I	p.I664I	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		3	1991	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		56					A8K1F5	Silent	SNP	ENST00000408011.3	37	c.1992C>T	CCDS11888.1																																																																																				0.388	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		40	122	0	0	0	1	0	40	122					A	24056620	G	A	24056620	2	1	79	1	0	0	0	0	0	0	0	1	8126	1048	37	1		1	KCTD1	18	24056620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16733	24056620	54020628	17997	28314											
CHST9	83539	broad.mit.edu	37	chr18	24496351	24496351	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgagcattggttctttcatCggaagagtgcctatccttaa	9	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496351C>T	ENST00000284224.8	-	6	1481	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	402					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)	p.D402Y(1)		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)					GTTCTTTCATCGGAAGAGTGC	0.363																																						ENST00000284224.8																			1	Substitution - Missense(1)	p.D402Y(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(1204-1206)Gat>Aat		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							146	136	139					18																	24496351		1840	4090	5930	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496351C>T	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.1204G>A	18.37:g.24496351C>T	ENSP00000284224:p.Asp402Asn					CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.D402N|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	p.D402N	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1481	-	all_lung(6;0.0145)|Ovarian(20;0.124)		402					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.1204G>A	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184112	0.78677	.	.	ENSG00000154080	ENST00000284224	T	0.73152	-0.72	6.07	6.07	0.98685	.	0.073354	0.56097	D	0.000021	T	0.71143	0.3305	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.73949	-0.3821	10	0.40728	T	0.16	-26.7158	20.6593	0.99626	0.0:1.0:0.0:0.0	.	402	Q7L1S5	CHST9_HUMAN	N	402	ENSP00000284224:D402N	ENSP00000284224:D402N	D	-	1	0	CHST9	22750349	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.755000	0.68750	2.885000	0.99019	0.655000	0.94253	GAT		0.363	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		127	607	0	0	0	1	0	127	607					T	24496351	C	T	24496351	3	4	79	1	0	0	0	0	1	0	0	0	3420	884	31	1	131	1	CHST9	18	24496351	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439731	24496351	53580897	17998	28315											
CHST9	83539	broad.mit.edu	37	chr18	24496606	24496606	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattaatgcttcttcacaggCatttggtcgatatttcttga	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496606C>T	ENST00000284224.8	-	6	1226	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	317					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)					TCTTCACAGGCATTTGGTCGA	0.398																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(949-951)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							154	147	149					18																	24496606		1879	4107	5986	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496606C>T	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.949G>A	18.37:g.24496606C>T	ENSP00000284224:p.Ala317Thr					CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.A317T|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	p.A317T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1226	-	all_lung(6;0.0145)|Ovarian(20;0.124)		317					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.949G>A	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805161	0.50315	.	.	ENSG00000154080	ENST00000284224	T	0.74209	-0.82	6.17	6.17	0.99709	.	0.245793	0.36134	N	0.002767	D	0.82360	0.5020	M	0.65498	2.005	0.80722	D	1	P	0.46912	0.886	P	0.51550	0.673	T	0.82374	-0.0489	10	0.72032	D	0.01	-4.0501	20.8794	0.99867	0.0:1.0:0.0:0.0	.	317	Q7L1S5	CHST9_HUMAN	T	317	ENSP00000284224:A317T	ENSP00000284224:A317T	A	-	1	0	CHST9	22750604	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.758000	0.62220	2.941000	0.99782	0.655000	0.94253	GCC		0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		165	772	0	0	0	1	0	165	772					T	24496606	C	T	24496606	3	4	79	1	0	0	0	0	1	0	0	0	3420	710	25	2	386	2	CHST9	18	24496606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	24496606	53580642	17999	28316											
CHST9	83539	broad.mit.edu	37	chr18	24524299	24524299	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgagagaatacctggttGgtgatatgttcctggatttt	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24524299G>A	ENST00000284224.8	-	5	511	c.234C>T	c.(232-234)acC>acT	p.T78T	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_Intron|CHST9_ENST00000581714.1_Silent_p.T78T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	78					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)					ATACCTGGTTGGTGATATGTT	0.313																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(232-234)acC>acT		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							105	97	99					18																	24524299		1810	4080	5890	SO:0001819	synonymous_variant	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24524299G>A	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.234C>T	18.37:g.24524299G>A						CHST9_ENST00000580774.1_Intron|CHST9_ENST00000581714.1_Silent_p.T78T|AQP4-AS1_ENST00000578701.1_RNA	p.T78T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			5	511	-	all_lung(6;0.0145)|Ovarian(20;0.124)		78					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	c.234C>T	CCDS42422.1																																																																																				0.313	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		53	213	0	0	0	1	0	53	213					A	24524299	G	A	24524299	2	1	79	1	0	0	0	0	0	0	0	1	3420	1335	47	2		2	CHST9	18	24524299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27693	24524299	53552949	18000	28317											
CDH2	1000	broad.mit.edu	37	chr18	25565534	25565534	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttctcttaatagtcactgGagataaaggaagatcaaaag	8	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25565534G>A	ENST00000269141.3	-	12	2356	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	645	Cadherin 5. {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						ATAGTCACTGGAGATAAAGGA	0.373																																						ENST00000269141.3																			0				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						c.(1933-1935)Cca>Tca		cadherin 2, type 1, N-cadherin (neuronal)							74	74	74					18																	25565534		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565534G>A	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.1933C>T	18.37:g.25565534G>A	ENSP00000269141:p.Pro645Ser					CDH2_ENST00000399380.3_Missense_Mutation_p.P614S	p.P645S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			12	2356	-			645			Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1933C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597282	0.46318	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.51325	0.71;0.71	5.96	5.96	0.96718	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59972	0.2233	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47446	-0.9117	10	0.06494	T	0.89	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	614;645	A8MWK3;P19022	.;CADH2_HUMAN	S	645;614	ENSP00000269141:P645S;ENSP00000382312:P614S	ENSP00000269141:P645S	P	-	1	0	CDH2	23819532	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.414000	0.97362	2.830000	0.97506	0.585000	0.79938	CCA		0.373	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		35	218	0	0	0	1	0	35	218					A	25565534	G	A	25565534	3	1	79	1	0	0	0	0	1	0	0	0	3114	1174	41	2	807	2	CDH2	18	25565534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1041235	25565534	52511714	18001	28318											
CDH2	1000	broad.mit.edu	37	chr18	25570308	25570308	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catcctatttgtttcaaagtCgattggctggaaaataaaag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25570308C>T	ENST00000269141.3	-	10	1774	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	451	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						GTTTCAAAGTCGATTGGCTGG	0.393																																						ENST00000269141.3																			0				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						c.(1351-1353)Gac>Aac		cadherin 2, type 1, N-cadherin (neuronal)							55	56	56					18																	25570308		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570308C>T	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.1351G>A	18.37:g.25570308C>T	ENSP00000269141:p.Asp451Asn					CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	p.D451N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			10	1774	-			451			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1351G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178862	0.78564	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.63417	-0.04;-0.04	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.81239	2.535	0.80722	D	1	D;D	0.65815	0.995;0.994	P;P	0.53401	0.725;0.642	T	0.77568	-0.2539	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	420;451	A8MWK3;P19022	.;CADH2_HUMAN	N	451;420	ENSP00000269141:D451N;ENSP00000382312:D420N	ENSP00000269141:D451N	D	-	1	0	CDH2	23824306	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAC		0.393	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		52	208	0	0	0	1	0	52	208					T	25570308	C	T	25570308	3	4	79	1	0	0	0	0	1	0	0	0	3114	884	31	1	1397	1	CDH2	18	25570308	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4774	25570308	52506940	18002	28319											
CDH2	1000	broad.mit.edu	37	chr18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtctggatggcgaaccGtccagtaggatctccgccac	13	13	2	0	rs199882009		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	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						ATGGCGAACCGTCCAGTAGGA	0.527																																						ENST00000269141.3																			0				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						c.(1288-1290)Cgg>Tgg		cadherin 2, type 1, N-cadherin (neuronal)							207	161	177					18																	25572675		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572675G>A	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.1288C>T	18.37:g.25572675G>A	ENSP00000269141:p.Arg430Trp					CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	p.R430W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1711	-			430			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1288C>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646380	0.47258	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.50813	0.73;0.73	5.39	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.162822	0.52532	D	0.000075	T	0.60702	0.2289	L	0.43598	1.365	0.40622	D	0.981774	D;D	0.89917	1.0;1.0	D;D	0.79108	0.984;0.992	T	0.62978	-0.6739	10	0.48119	T	0.1	.	15.3486	0.74363	0.0:0.0:0.8551:0.1449	.	399;430	A8MWK3;P19022	.;CADH2_HUMAN	W	430;399	ENSP00000269141:R430W;ENSP00000382312:R399W	ENSP00000269141:R430W	R	-	1	2	CDH2	23826673	0.880000	0.30214	0.071000	0.20095	0.146000	0.21551	3.612000	0.54142	1.334000	0.45468	0.655000	0.94253	CGG		0.527	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		51	250	0	0	0	1	0	51	250					A	25572675	G	A	25572675	3	1	79	1	0	0	0	0	1	0	0	0	3114	1144	40	1	1464	1	CDH2	18	25572675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2367	25572675	52504573	18003	28320											
DSC3	1825	broad.mit.edu	37	chr18	28576801	28576801	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actgtgccactccgagtaagTgtatctgcagttgtccacct	9	12	1	0	rs115171596	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28576801T>G	ENST00000360428.4	-	15	2529	c.2449A>C	c.(2449-2451)Act>Cct	p.T817P	DSC3_ENST00000434452.1_Missense_Mutation_p.T817P	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	817					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)			TCCGAGTAAGTGTATCTGCAG	0.507																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2449-2451)Act>Cct		desmocollin 3							102	87	92					18																	28576801		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576801T>G	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.2449A>C	18.37:g.28576801T>G	ENSP00000353608:p.Thr817Pro					DSC3_ENST00000360428.4_Missense_Mutation_p.T817P	p.T817P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2603	-			817					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2449A>C	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	T	7.387	0.630069	0.14257	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.77098	-1.07;0.36	4.57	2.14	0.27477	Cadherin, cytoplasmic domain (1);	0.499351	0.14992	N	0.286653	D	0.84202	0.5420	M	0.76838	2.35	0.24595	N	0.993807	D;D	0.67145	0.983;0.996	D;D	0.67725	0.917;0.953	T	0.72513	-0.4270	10	0.72032	D	0.01	.	5.1958	0.15236	0.1406:0.1556:0.0:0.7039	.	817;817	Q14574;Q14574-2	DSC3_HUMAN;.	P	817	ENSP00000353608:T817P;ENSP00000392068:T817P	ENSP00000353608:T817P	T	-	1	0	DSC3	26830799	0.994000	0.37717	0.554000	0.28268	0.608000	0.37181	1.385000	0.34408	0.346000	0.23899	0.533000	0.62120	ACT		0.507	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		55	279	0	0	0	1	0	55	279					G	28576801	T	G	28576801	3	3	79	1	0	0	0	0	1	0	0	0	4783	1696	59	4	280	4	DSC3	18	28576801	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3004126	28576801	49500447	18004	28321											
DSC3	1825	broad.mit.edu	37	chr18	28586953	28586953	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaatggagctccatggAcaggttcatcaggatcaaca	9	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28586953A>G	ENST00000360428.4	-	12	1888	c.1808T>C	c.(1807-1809)gTc>gCc	p.V603A	DSC3_ENST00000434452.1_Missense_Mutation_p.V603A	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	603	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)			AGCTCCATGGACAGGTTCATC	0.358																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1807-1809)gTc>gCc		desmocollin 3							107	105	106					18																	28586953		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28586953A>G	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.1808T>C	18.37:g.28586953A>G	ENSP00000353608:p.Val603Ala					DSC3_ENST00000360428.4_Missense_Mutation_p.V603A	p.V603A	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		12	1962	-			603			Cadherin 5.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1808T>C	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	0.632	-0.816678	0.02776	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.60548	0.18;0.18	5.11	-0.191	0.13252	Cadherin (2);Cadherin-like (1);	1.001040	0.08063	N	0.998654	T	0.37839	0.1018	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.21655	-1.0239	10	0.11794	T	0.64	.	4.6816	0.12738	0.4613:0.0:0.3889:0.1498	.	603;603	Q14574;Q14574-2	DSC3_HUMAN;.	A	603	ENSP00000353608:V603A;ENSP00000392068:V603A	ENSP00000353608:V603A	V	-	2	0	DSC3	26840951	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.391000	0.20784	0.068000	0.16574	-0.490000	0.04691	GTC		0.358	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		58	247	0	0	0	1	0	58	247					G	28586953	A	G	28586953	3	3	79	1	0	0	0	0	1	0	0	0	4783	275	10	4	933	4	DSC3	18	28586953	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	10152	28586953	49490295	18005	28322											
DSC3	1825	broad.mit.edu	37	chr18	28588089	28588089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctgaaatttcatcaatgGtgatccaacctttaggatca	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28588089G>A	ENST00000360428.4	-	11	1636	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	DSC3_ENST00000434452.1_Missense_Mutation_p.T519I	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	519	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)			TTCATCAATGGTGATCCAACC	0.313																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1555-1557)aCc>aTc		desmocollin 3							36	34	34					18																	28588089		2203	4295	6498	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28588089G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.1556C>T	18.37:g.28588089G>A	ENSP00000353608:p.Thr519Ile					DSC3_ENST00000360428.4_Missense_Mutation_p.T519I	p.T519I	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		11	1710	-			519			Cadherin 4.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.1556C>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455834	0.26161	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.54675	0.56;0.56	5.08	-1.53	0.08611	Cadherin (4);Cadherin-like (1);	0.782790	0.10416	N	0.677346	T	0.57592	0.2064	M	0.79123	2.44	0.24325	N	0.995025	B;B	0.29716	0.255;0.203	B;B	0.39935	0.314;0.135	T	0.58504	-0.7625	10	0.46703	T	0.11	.	10.5402	0.45029	0.0:0.4184:0.1923:0.3893	.	519;519	Q14574;Q14574-2	DSC3_HUMAN;.	I	519	ENSP00000353608:T519I;ENSP00000392068:T519I	ENSP00000353608:T519I	T	-	2	0	DSC3	26842087	0.041000	0.20044	0.411000	0.26484	0.703000	0.40648	-0.030000	0.12308	-0.418000	0.07450	-0.175000	0.13238	ACC		0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		22	75	0	0	0	1	0	22	75					A	28588089	G	A	28588089	3	1	79	1	0	0	0	0	1	0	0	0	4783	1261	44	2	1189	2	DSC3	18	28588089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1136	28588089	49489159	18006	28323											
DSC3	1825	broad.mit.edu	37	chr18	28602455	28602455	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctgtggcacaaaccacCcccactgtagtacctacaca	6	16	1	0	rs573762324		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28602455C>T	ENST00000360428.4	-	7	869	c.789G>A	c.(787-789)ggG>ggA	p.G263G	DSC3_ENST00000434452.1_Silent_p.G263G	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	263	Cadherin 2. {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)			CACAAACCACCCCCACTGTAG	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16554	0.0		0.0	False		,,,				2504	0.0					ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(787-789)ggG>ggA		desmocollin 3							122	109	113					18																	28602455		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28602455C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.789G>A	18.37:g.28602455C>T						DSC3_ENST00000360428.4_Silent_p.G263G	p.G263G	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		7	943	-			263			Cadherin 2.		A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.789G>A	CCDS32810.1																																																																																				0.388	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		41	239	0	0	0	1	0	41	239					T	28602455	C	T	28602455	2	4	79	1	0	0	0	0	0	0	0	1	4783	610	22	2		2	DSC3	18	28602455	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14366	28602455	49474793	18007	28324											
DSC3	1825	broad.mit.edu	37	chr18	28605830	28605830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttctttatcaactccacGtccacttattgagtagaaga	7	9	2	3	rs137869359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28605830G>A	ENST00000360428.4	-	5	606	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	DSC3_ENST00000434452.1_Missense_Mutation_p.R176C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	176	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)			TCAACTCCACGTCCACTTATT	0.313																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(526-528)Cgt>Tgt		desmocollin 3		G	CYS/ARG,CYS/ARG	3,4401	6.2+/-15.9	0,3,2199	55	56	56		526,526	4.9	1	18	dbSNP_134	56	0,8600		0,0,4300	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	180,180	0,3,6499	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging	176/897,176/840	28605830	3,13001	2202	4300	6502	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28605830G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.526C>T	18.37:g.28605830G>A	ENSP00000353608:p.Arg176Cys					DSC3_ENST00000360428.4_Missense_Mutation_p.R176C	p.R176C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		5	680	-			176			Cadherin 1.		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.526C>T	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290692	0.80914	6.81E-4	0.0	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.61274	0.12;0.12	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.000000	0.33382	N	0.004974	T	0.63177	0.2489	L	0.27053	0.805	0.52099	D	0.999944	D;D	0.71674	0.997;0.998	P;P	0.61658	0.892;0.827	T	0.67473	-0.5662	10	0.87932	D	0	.	17.4558	0.87607	0.0:0.0:1.0:0.0	.	176;176	Q14574;Q14574-2	DSC3_HUMAN;.	C	176	ENSP00000353608:R176C;ENSP00000392068:R176C	ENSP00000353608:R176C	R	-	1	0	DSC3	26859828	1.000000	0.71417	0.976000	0.42696	0.819000	0.46315	5.544000	0.67231	2.706000	0.92434	0.655000	0.94253	CGT		0.313	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		27	131	0	0	0	1	0	27	131					A	28605830	G	A	28605830	3	1	79	1	0	0	0	0	1	0	0	0	4783	1145	40	1	2243	1	DSC3	18	28605830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3375	28605830	49471418	18008	28325											
DSC2	1824	broad.mit.edu	37	chr18	28662229	28662229	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacacaaagaactccttcaTtggttttggcatctgttaca	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28662229T>C	ENST00000280904.6	-	9	1681	c.1238A>G	c.(1237-1239)aAt>aGt	p.N413S	DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	413	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)			AACTCCTTCATTGGTTTTGGC	0.294																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1237-1239)aAt>aGt		desmocollin 2							81	85	84					18																	28662229		2202	4296	6498	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662229T>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1238A>G	18.37:g.28662229T>C	ENSP00000280904:p.Asn413Ser					DSC2_ENST00000251081.6_Missense_Mutation_p.N413S	p.N413S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		9	1681	-			413			Cadherin 3.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1238A>G	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344545	0.82022	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.38077	1.16;1.16	5.69	5.69	0.88448	Cadherin (5);Cadherin-like (1);	0.000000	0.34555	N	0.003875	T	0.65354	0.2683	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.72214	-0.4358	10	0.87932	D	0	.	14.9309	0.70914	0.0:0.0:0.0:1.0	.	413;413	Q02487;Q02487-2	DSC2_HUMAN;.	S	413;413;179;426	ENSP00000251081:N413S;ENSP00000280904:N413S	ENSP00000251081:N413S	N	-	2	0	DSC2	26916227	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.373000	0.79623	2.170000	0.68504	0.528000	0.53228	AAT		0.294	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		8	287	0	0	0	1	0	8	287					C	28662229	T	C	28662229	3	2	79	1	0	0	0	0	1	0	0	0	4782	1493	52	4	1539	4	DSC2	18	28662229	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56399	28662229	49415019	18009	28326											
DSC2	1824	broad.mit.edu	37	chr18	28669454	28669454	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gacgagtacaatacaagtttCcagtgtctctctccacataa	6	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28669454C>A	ENST00000280904.6	-	5	1021	c.578G>T	c.(577-579)gGa>gTa	p.G193V	DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	193	Cadherin 1. {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)			ATACAAGTTTCCAGTGTCTCT	0.403																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(577-579)gGa>gTa		desmocollin 2							113	110	111					18																	28669454		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28669454C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.578G>T	18.37:g.28669454C>A	ENSP00000280904:p.Gly193Val					DSC2_ENST00000251081.6_Missense_Mutation_p.G193V	p.G193V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		5	1021	-			193			Cadherin 1.			Missense_Mutation	SNP	ENST00000280904.6	37	c.578G>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688337	0.88639	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.73152	-0.72;-0.72	6.16	6.16	0.99307	Cadherin (5);Cadherin-like (1);	0.000000	0.31697	N	0.007218	D	0.90310	0.6969	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92440	0.5961	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	193;193	Q02487;Q02487-2	DSC2_HUMAN;.	V	193;193;206	ENSP00000251081:G193V;ENSP00000280904:G193V	ENSP00000251081:G193V	G	-	2	0	DSC2	26923452	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.504000	0.53347	2.937000	0.99478	0.650000	0.86243	GGA		0.403	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		66	263	1	0	1.08241e-25	1	1.24348e-25	66	263					A	28669454	C	A	28669454	3	1	79	1	0	0	0	0	1	0	0	0	4782	855	30	3	2215	3	DSC2	18	28669454	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7225	28669454	49407794	18010	28327											
DSC2	1824	broad.mit.edu	37	chr18	28672188	28672188	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttgttgtatagactgaaCcatcctccaaaatttggaag	7	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672188C>T	ENST00000280904.6	-	3	673	c.230G>A	c.(229-231)gGt>gAt	p.G77D	DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	77					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)			ATAGACTGAACCATCCTCCAA	0.343																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(229-231)gGt>gAt		desmocollin 2							74	73	73					18																	28672188		2202	4299	6501	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28672188C>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.230G>A	18.37:g.28672188C>T	ENSP00000280904:p.Gly77Asp					DSC2_ENST00000251081.6_Missense_Mutation_p.G77D	p.G77D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	673	-			77						Missense_Mutation	SNP	ENST00000280904.6	37	c.230G>A	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183727	0.78677	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	D;D	0.91464	-2.85;-2.85	5.1	5.1	0.69264	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.32935	N	0.005474	D	0.95449	0.8522	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95885	0.8902	10	0.87932	D	0	.	17.6462	0.88149	0.0:1.0:0.0:0.0	.	77;77	Q02487;Q02487-2	DSC2_HUMAN;.	D	77	ENSP00000251081:G77D;ENSP00000280904:G77D	ENSP00000251081:G77D	G	-	2	0	DSC2	26926186	0.999000	0.42202	0.998000	0.56505	0.895000	0.52256	4.935000	0.63498	2.550000	0.86006	0.455000	0.32223	GGT		0.343	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		52	215	0	0	0	1	0	52	215					T	28672188	C	T	28672188	3	4	79	1	0	0	0	0	1	0	0	0	4782	507	18	2	2571	2	DSC2	18	28672188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2734	28672188	49405060	18011	28328											
DSC2	1824	broad.mit.edu	37	chr18	28672216	28672216	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaatttggaagtcaggatCacttgaatgaattagatttg	9	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672216C>A	ENST00000280904.6	-	3	645	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	68					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)			AAGTCAGGATCACTTGAATGA	0.333																																						ENST00000280904.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(202-204)Gat>Tat		desmocollin 2							67	66	66					18																	28672216		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28672216C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.202G>T	18.37:g.28672216C>A	ENSP00000280904:p.Asp68Tyr					DSC2_ENST00000251081.6_Missense_Mutation_p.D68Y	p.D68Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	645	-			68						Missense_Mutation	SNP	ENST00000280904.6	37	c.202G>T	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585829	0.66105	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.57595	0.39;0.39	5.21	5.21	0.72293	Cadherin prodomain-like (1);Cadherin-like (1);	0.000000	0.33346	N	0.005008	T	0.71854	0.3389	M	0.81112	2.525	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75238	-0.3388	10	0.87932	D	0	.	11.4042	0.49887	0.0:0.9153:0.0:0.0847	.	68;68	Q02487;Q02487-2	DSC2_HUMAN;.	Y	68	ENSP00000251081:D68Y;ENSP00000280904:D68Y	ENSP00000251081:D68Y	D	-	1	0	DSC2	26926214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.418000	0.52721	2.607000	0.88179	0.455000	0.32223	GAT		0.333	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		47	204	1	0	1.02687e-29	1	1.20094e-29	47	204					A	28672216	C	A	28672216	3	1	79	1	0	0	0	0	1	0	0	0	4782	826	29	3	2599	3	DSC2	18	28672216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	28672216	49405032	18012	28329											
DSC1	1823	broad.mit.edu	37	chr18	28710482	28710482	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaaggcacatttattTcttgatgcatgtctttgcta	6	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28710482T>G	ENST00000257198.5	-	16	2941	c.2680A>C	c.(2680-2682)Aaa>Caa	p.K894Q	DSC1_ENST00000257197.3_3'UTR|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	894					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CACATTTATTTCTTGATGCAT	0.393																																						ENST00000257198.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2680-2682)Aaa>Caa		desmocollin 1							133	129	130					18																	28710482		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710482T>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2680A>C	18.37:g.28710482T>G	ENSP00000257198:p.Lys894Gln					RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	p.K894Q	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2941	-			894					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2680A>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453221	0.43531	.	.	ENSG00000134765	ENST00000257198	T	0.58940	0.3	6.17	0.998	0.19857	.	0.646706	0.14215	N	0.333813	T	0.45054	0.1323	L	0.34521	1.04	0.23156	N	0.998203	B	0.19200	0.034	B	0.24394	0.053	T	0.41998	-0.9477	10	0.56958	D	0.05	.	9.4925	0.38969	0.1086:0.0:0.3923:0.4991	.	894	Q08554	DSC1_HUMAN	Q	894	ENSP00000257198:K894Q	ENSP00000257198:K894Q	K	-	1	0	DSC1	26964480	0.921000	0.31238	0.066000	0.19879	0.158000	0.22134	1.302000	0.33459	0.213000	0.20722	0.533000	0.62120	AAA		0.393	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		130	558	0	0	0	1	0	130	558					G	28710482	T	G	28710482	3	3	79	1	0	0	0	0	1	0	0	0	4781	1792	62	4	8	4	DSC1	18	28710482	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38266	28710482	49366766	18013	28330											
DSC1	1823	broad.mit.edu	37	chr18	28725591	28725591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttctctatccagaaaagGtgtagttgtggtgatgacac	10	7	1	3	rs369709593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28725591G>A	ENST00000257198.5	-	7	1183	c.922C>T	c.(922-924)Cct>Tct	p.P308S	DSC1_ENST00000257197.3_Missense_Mutation_p.P308S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	308	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCAGAAAAGGTGTAGTTGTG	0.373																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(922-924)Cct>Tct		desmocollin 1		G	SER/PRO,SER/PRO	2,4404	4.2+/-10.8	0,2,2201	159	154	156		922,922	-0.6	0	18		156	0,8600		0,0,4300	no	missense,missense	DSC1	NM_024421.2,NM_004948.3	74,74	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	308/895,308/841	28725591	2,13004	2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28725591G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.922C>T	18.37:g.28725591G>A	ENSP00000257198:p.Pro308Ser					RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P308S	p.P308S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		7	1183	-			308			Cadherin 2.		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.922C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.164066	0.01673	4.54E-4	0.0	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.54675	0.56;0.56	5.32	-0.572	0.11745	Cadherin (4);Cadherin-like (1);	0.446761	0.18957	N	0.126507	T	0.22475	0.0542	N	0.05554	-0.025	0.09310	N	1	B;B	0.18461	0.028;0.012	B;B	0.15052	0.012;0.012	T	0.14254	-1.0479	10	0.13853	T	0.58	.	4.2214	0.10559	0.3703:0.0:0.3952:0.2345	.	308;308	Q08554;Q9HB00	DSC1_HUMAN;.	S	308	ENSP00000257197:P308S;ENSP00000257198:P308S	ENSP00000257197:P308S	P	-	1	0	DSC1	26979589	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-0.228000	0.09114	0.182000	0.20032	0.484000	0.47621	CCT		0.373	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		86	398	0	0	0	1	0	86	398					A	28725591	G	A	28725591	3	1	79	1	0	0	0	0	1	0	0	0	4781	1261	44	2	1842	2	DSC1	18	28725591	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15109	28725591	49351657	18014	28331											
DSG1	1828	broad.mit.edu	37	chr18	28934818	28934818	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttagagatgcctgacttgCgagatgggtcgaatgttata	13	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28934818C>T	ENST00000257192.4	+	15	2871	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	887					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)			GCCTGACTTGCGAGATGGGTC	0.478																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2659-2661)Cga>Tga		desmoglein 1							165	156	159					18																	28934818		2203	4300	6503	SO:0001587	stop_gained	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28934818C>T	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.2659C>T	18.37:g.28934818C>T	ENSP00000257192:p.Arg887*					DSG1_ENST00000462981.2_Nonsense_Mutation_p.R246*|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	p.R887*	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	2871	+			887					B7Z845	Nonsense_Mutation	SNP	ENST00000257192.4	37	c.2659C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	38	6.653377	0.97739	.	.	ENSG00000134760	ENST00000257192	.	.	.	6.02	4.87	0.63330	.	0.236364	0.38217	N	0.001767	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5659	0.33538	0.5489:0.3835:0.0675:0.0	.	.	.	.	X	887	.	ENSP00000257192:R887X	R	+	1	2	DSG1	27188816	0.998000	0.40836	0.999000	0.59377	0.854000	0.48673	2.019000	0.41001	1.113000	0.41760	-0.262000	0.10625	CGA		0.478	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		123	553	0	0	0	1	0	123	553					T	28934818	C	T	28934818	4	4	79	1	0	0	0	0	0	1	0	0	4792	760	27	1	2717	1	DSG1	18	28934818	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209227	28934818	49142430	18015	28332											
DSG1	1828	broad.mit.edu	37	chr18	28935055	28935055	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgtaactggaattagtGgcaccactgggatcagcggt	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28935055G>T	ENST00000257192.4	+	15	3108	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	966					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)			TGGAATTAGTGGCACCACTGG	0.567																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2896-2898)Ggc>Tgc		desmoglein 1							161	154	156					18																	28935055		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28935055G>T	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.2896G>T	18.37:g.28935055G>T	ENSP00000257192:p.Gly966Cys					DSG1_ENST00000462981.2_Missense_Mutation_p.G325C|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	p.G966C	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		15	3108	+			966					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.2896G>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	1.269	-0.613598	0.03690	.	.	ENSG00000134760	ENST00000257192	T	0.60299	0.2	6.11	4.32	0.51571	.	0.000000	0.53938	D	0.000054	T	0.51210	0.1661	N	0.08118	0	0.25503	N	0.987539	D	0.76494	0.999	D	0.62955	0.909	T	0.43343	-0.9397	10	0.62326	D	0.03	.	8.8549	0.35223	0.2249:0.0:0.7751:0.0	.	966	Q02413	DSG1_HUMAN	C	966	ENSP00000257192:G966C	ENSP00000257192:G966C	G	+	1	0	DSG1	27189053	0.984000	0.35163	0.114000	0.21550	0.003000	0.03518	1.520000	0.35899	1.600000	0.50102	0.655000	0.94253	GGC		0.567	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		157	701	1	0	4.8073e-73	1	6.11803e-73	157	701					T	28935055	G	T	28935055	3	4	79	1	0	0	0	0	1	0	0	0	4792	1348	47	3	2954	3	DSG1	18	28935055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	237	28935055	49142193	18016	28333											
DSG4	147409	broad.mit.edu	37	chr18	28983528	28983528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgaacattcttatgggtctCcgtttactttctgtgttgtt	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28983528C>T	ENST00000308128.4	+	11	1702	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P523S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	523					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)			TTATGGGTCTCCGTTTACTTT	0.383																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1567-1569)Ccg>Tcg		desmoglein 4							146	135	139					18																	28983528		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28983528C>T	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.1567C>T	18.37:g.28983528C>T	ENSP00000311859:p.Pro523Ser					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P523S	p.P523S	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1596	+			523					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1567C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477402	0.63849	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.62788	0.0;0.0	6.01	6.01	0.97437	Cadherin-like (1);	0.000000	0.34460	N	0.003957	D	0.82774	0.5110	M	0.85859	2.78	0.51767	D	0.999936	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.948	D	0.84109	0.0400	10	0.87932	D	0	.	20.1245	0.97974	0.0:1.0:0.0:0.0	.	523;523	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	523	ENSP00000311859:P523S;ENSP00000352785:P523S	ENSP00000311859:P523S	P	+	1	0	DSG4	27237526	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.579000	0.67457	2.850000	0.98022	0.655000	0.94253	CCG		0.383	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		41	235	0	0	0	1	0	41	235					T	28983528	C	T	28983528	3	4	79	1	0	0	0	0	1	0	0	0	4795	855	30	2	1609	2	DSG4	18	28983528	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48473	28983528	49093720	18017	28334											
DSG4	147409	broad.mit.edu	37	chr18	28992915	28992915	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagttggattgtggatgActtagatgaaagctgcatgg	14	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28992915A>G	ENST00000308128.4	+	16	2615	c.2480A>G	c.(2479-2481)gAc>gGc	p.D827G	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D846G	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	827					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)			ATTGTGGATGACTTAGATGAA	0.453																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2536-2538)gAc>gGc		desmoglein 4							134	124	127					18																	28992915		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992915A>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2480A>G	18.37:g.28992915A>G	ENSP00000311859:p.Asp827Gly					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D827G	p.D846G	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2566	+			827					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2537A>G	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080926	0.76528	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.79141	-1.24;-1.24	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	0.000000	0.36482	N	0.002569	D	0.89842	0.6832	M	0.89214	3.015	0.45718	D	0.998622	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.91774	0.5430	10	0.87932	D	0	.	15.8549	0.78968	1.0:0.0:0.0:0.0	.	846;827	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	G	827;846	ENSP00000311859:D827G;ENSP00000352785:D846G	ENSP00000311859:D827G	D	+	2	0	DSG4	27246913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.420000	0.66441	2.141000	0.66446	0.528000	0.53228	GAC		0.453	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		98	469	0	0	0	1	0	98	469					G	28992915	A	G	28992915	3	3	79	1	0	0	0	0	1	0	0	0	4795	275	10	4	2663	4	DSG4	18	28992915	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9387	28992915	49084333	18018	28335											
DSG3	1830	broad.mit.edu	37	chr18	29055872	29055872	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcggttatgggattgaatcCtgtggccatcccatagaagt	12	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29055872C>A	ENST00000257189.4	+	16	2732	c.2649C>A	c.(2647-2649)tcC>tcA	p.S883S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	883					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)			GGATTGAATCCTGTGGCCATC	0.473																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2647-2649)tcC>tcA		desmoglein 3							123	121	122					18																	29055872		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055872C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2649C>A	18.37:g.29055872C>A							p.S883S	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2732	+			883					A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2649C>A	CCDS11898.1																																																																																				0.473	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		97	425	1	0	7.30829e-53	1	9.0986e-53	97	425					A	29055872	C	A	29055872	2	1	79	1	0	0	0	0	0	0	0	1	4794	668	24	3		3	DSG3	18	29055872	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62957	29055872	49021376	18019	28336											
DSG2	1829	broad.mit.edu	37	chr18	29115361	29115361	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacatacactgtaaagattgTggccatatcagaaggtaagt	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29115361T>C	ENST00000261590.8	+	10	1618	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	470	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)			GTAAAGATTGTGGCCATATCA	0.299																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1408-1410)gTg>gCg		desmoglein 2							43	41	42					18																	29115361		1806	4072	5878	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29115361T>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1409T>C	18.37:g.29115361T>C	ENSP00000261590:p.Val470Ala						p.V470A	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		10	1618	+			470			Cadherin 4.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.1409T>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706790	0.30232	.	.	ENSG00000046604	ENST00000261590	T	0.61274	0.12	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	1.741940	0.02868	N	0.131227	T	0.64405	0.2595	L	0.53249	1.67	0.80722	D	1	B	0.26975	0.165	B	0.31442	0.13	T	0.36696	-0.9737	10	0.62326	D	0.03	.	15.8834	0.79222	0.0:0.0:0.0:1.0	.	470	Q14126	DSG2_HUMAN	A	470	ENSP00000261590:V470A	ENSP00000261590:V470A	V	+	2	0	DSG2	27369359	1.000000	0.71417	0.037000	0.18230	0.151000	0.21798	6.445000	0.73456	2.158000	0.67659	0.379000	0.24179	GTG		0.299	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		26	99	0	0	0	1	0	26	99					C	29115361	T	C	29115361	3	2	79	1	0	0	0	0	1	0	0	0	4793	1696	59	4	1447	4	DSG2	18	29115361	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	59489	29115361	48961887	18020	28337											
DSG2	1829	broad.mit.edu	37	chr18	29118725	29118725	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttgtaggtaccagtgtgCtgctgcaacaaagtgagaaa	11	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29118725C>T	ENST00000261590.8	+	12	1872	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	555					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)			TACCAGTGTGCTGCTGCAACA	0.413																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1663-1665)Ctg>Ttg		desmoglein 2							96	90	92					18																	29118725		1897	4120	6017	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29118725C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1663C>T	18.37:g.29118725C>T							p.L555L	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		12	1872	+			555					Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.1663C>T	CCDS42423.1																																																																																				0.413	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		47	245	0	0	0	1	0	47	245					T	29118725	C	T	29118725	2	4	79	1	0	0	0	0	0	0	0	1	4793	796	28	2		2	DSG2	18	29118725	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3364	29118725	48958523	18021	28338											
MCART2	147407	broad.mit.edu	37	chr18	29339989	29339989	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctccaccgataaaatcattGaccaaatgagcactgtgagt	7	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29339989G>A	ENST00000579441.2	-	1	635	c.636C>T	c.(634-636)gtC>gtT	p.V212V	SLC25A52_ENST00000269205.5_Silent_p.V222V			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	212					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TAAAATCATTGACCAAATGAG	0.458																																						ENST00000269205.5																			0											c.(664-666)gtC>gtT		solute carrier family 25, member 52							87	84	85					18																	29339989		2203	4300	6503	SO:0001819	synonymous_variant	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29339989G>A		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.636C>T	18.37:g.29339989G>A						SLC25A52_ENST00000579441.2_Silent_p.V212V	p.V222V	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	854	-			212						Silent	SNP	ENST00000579441.2	37	c.666C>T																																																																																					0.458	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		46	437	0	0	0	1	0	46	437					A	29339989	G	A	29339989	2	1	79	1	0	0	0	0	0	0	0	1	9411	1277	45	2		2	MCART2	18	29339989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	221264	29339989	48737259	18022	28339											
KIAA1012	22878	broad.mit.edu	37	chr18	29429662	29429662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaattcagaagataaacttCgataaaagaagtctgcacat	6	7	3	3	rs78689148	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429662C>T	ENST00000283351.4	-	25	3937	c.3602G>A	c.(3601-3603)cGa>cAa	p.R1201Q	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R1147Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1201					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						AGATAAACTTCGATAAAAGAA	0.328													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14870	0.0		0.0	False		,,,				2504	0.0					ENST00000283351.4																			0				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						c.(3601-3603)cGa>cAa		trafficking protein particle complex 8		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	74	72	73		3602	5.9	1	18	dbSNP_131	73	0,8598		0,0,4299	yes	missense	TRAPPC8	NM_014939.3	43	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	benign	1201/1436	29429662	2,13002	2203	4299	6502	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29429662C>T	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.3602G>A	18.37:g.29429662C>T	ENSP00000283351:p.Arg1201Gln					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.R1147Q	p.R1201Q	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			25	3937	-			1201					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3602G>A	CCDS11901.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	14.82	2.649391	0.47362	4.54E-4	0.0	ENSG00000153339	ENST00000283351	T	0.10382	2.88	5.86	5.86	0.93980	.	0.193458	0.46442	D	0.000284	T	0.07593	0.0191	N	0.25426	0.745	0.80722	D	1	B	0.25169	0.119	B	0.15484	0.013	T	0.34750	-0.9816	10	0.23891	T	0.37	.	10.2431	0.43324	0.0:0.8495:0.0:0.1505	.	1201	Q9Y2L5	TPPC8_HUMAN	Q	1201	ENSP00000283351:R1201Q	ENSP00000283351:R1201Q	R	-	2	0	TRAPPC8	27683660	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.731000	0.47343	2.776000	0.95493	0.655000	0.94253	CGA		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		55	244	0	0	0	1	0	55	244					T	29429662	C	T	29429662	3	4	79	1	0	0	0	0	1	0	0	0	8234	884	31	1	725	1	KIAA1012	18	29429662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89673	29429662	48647586	18023	28340											
KIAA1012	22878	broad.mit.edu	37	chr18	29429679	29429679	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgataaaagaagtctgcAcatgggcttgctgaacttat	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429679A>G	ENST00000283351.4	-	25	3920	c.3585T>C	c.(3583-3585)tgT>tgC	p.C1195C	TRAPPC8_ENST00000582539.1_Silent_p.C1141C	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1195					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						AGAAGTCTGCACATGGGCTTG	0.323																																						ENST00000283351.4																			0				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						c.(3583-3585)tgT>tgC		trafficking protein particle complex 8							61	60	60					18																	29429679		2203	4299	6502	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29429679A>G	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.3585T>C	18.37:g.29429679A>G						TRAPPC8_ENST00000582539.1_Silent_p.C1141C	p.C1195C	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			25	3920	-			1195					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.3585T>C	CCDS11901.1																																																																																				0.323	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		45	217	0	0	0	1	0	45	217					G	29429679	A	G	29429679	2	3	79	1	0	0	0	0	0	0	0	1	8234	157	6	4		4	KIAA1012	18	29429679	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17	29429679	48647569	18024	28341											
KIAA1012	22878	broad.mit.edu	37	chr18	29511465	29511465	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttaattacgtgaagttgaTtattaggatctctcatgtga	8	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29511465T>G	ENST00000283351.4	-	2	514	c.179A>C	c.(178-180)aAt>aCt	p.N60T	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.N60T|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N6T|TRAPPC8_ENST00000584876.1_5'UTR	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	60					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						GTGAAGTTGATTATTAGGATC	0.343																																						ENST00000283351.4																			0				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						c.(178-180)aAt>aCt		trafficking protein particle complex 8							102	106	104					18																	29511465		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29511465T>G	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.179A>C	18.37:g.29511465T>G	ENSP00000283351:p.Asn60Thr					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N6T|TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.N60T	p.N60T	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			2	514	-			60					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.179A>C	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454065	0.43634	.	.	ENSG00000153339	ENST00000283351	T	0.08720	3.06	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.42245	1.32	0.58432	D	0.999994	P;D	0.65815	0.733;0.995	B;D	0.66196	0.316;0.942	T	0.00677	-1.1614	10	0.33141	T	0.24	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	60;60	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	T	60	ENSP00000283351:N60T	ENSP00000283351:N60T	N	-	2	0	TRAPPC8	27765463	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.957000	0.76019	2.289000	0.77006	0.482000	0.46254	AAT		0.343	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		83	396	0	0	0	1	0	83	396					G	29511465	T	G	29511465	3	3	79	1	0	0	0	0	1	0	0	0	8234	1493	52	4	4240	4	KIAA1012	18	29511465	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81786	29511465	48565783	18025	28342											
FAM59A	64762	broad.mit.edu	37	chr18	29867839	29867839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacaggaagcctggttttctCcacaatgttgcggatggtgt	12	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29867839C>T	ENST00000269209.6	-	4	724	c.721G>A	c.(721-723)Gag>Aag	p.E241K	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.E241K			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	241	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)										CTGGTTTTCTCCACAATGTTG	0.527																																						ENST00000399218.4																			0											c.(721-723)Gag>Aag		GRB2 associated, regulator of MAPK1							185	156	166					18																	29867839		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867839C>T	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.721G>A	18.37:g.29867839C>T	ENSP00000269209:p.Glu241Lys					GAREM_ENST00000269209.6_Missense_Mutation_p.E241K|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR	p.E241K	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	776	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.721G>A	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224979	0.95173	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15139	2.45;2.45	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	L	0.57536	1.79	0.80722	D	1	D;P	0.76494	0.999;0.925	D;P	0.83275	0.996;0.891	T	0.11717	-1.0576	10	0.87932	D	0	-30.664	20.0679	0.97707	0.0:1.0:0.0:0.0	.	241;241	Q9H706;Q9H706-3	FA59A_HUMAN;.	K	241	ENSP00000382165:E241K;ENSP00000269209:E241K	ENSP00000269209:E241K	E	-	1	0	FAM59A	28121837	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.398000	0.79919	2.821000	0.97095	0.561000	0.74099	GAG		0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		75	357	0	0	0	1	0	75	357					T	29867839	C	T	29867839	3	4	79	1	0	0	0	0	1	0	0	0	5617	864	30	2	1918	2	FAM59A	18	29867839	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356374	29867839	48209409	18026	28343											
FAM59A	64762	broad.mit.edu	37	chr18	29972971	29972971	+	Frame_Shift_Del	DEL	T	T	-													aatgaatcagcagatagtcaTtttcccgcagcccttctacg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29972971delT	ENST00000269209.6	-	2	152	c.149delA	c.(148-150)aatfs	p.N50fs	GAREM_ENST00000399218.4_Frame_Shift_Del_p.N50fs			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	50	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)										CAGATAGTCATTTTCCCGCAG	0.438																																						ENST00000399218.4																			0											c.(148-150)atfs		GRB2 associated, regulator of MAPK1							132	113	119					18																	29972971		2203	4300	6503	SO:0001589	frameshift_variant	64762							g.chr18:29972971delT	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.149delA	18.37:g.29972971delT	ENSP00000269209:p.Asn50fs					GAREM_ENST00000269209.6_Frame_Shift_Del_p.N50fs	p.N50fs	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					2	204	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Frame_Shift_Del	DEL	ENST00000269209.6	37	c.149delA	CCDS56057.1																																																																																				0.438	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		82	318						82	318	---	---	---	---	-	29972971	T	-	29972971	7	5	79	1	0	1	0	1	0	0	0	0	5617	1493	52	0	2498	0	FAM59A	18	29972971	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	105132	29972971	48104277	18027	28344											
KLHL14	57565	broad.mit.edu	37	chr18	30321972	30321972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggtccggtccaggaggcaGccctccaaccaataacagca	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30321972G>T	ENST00000359358.4	-	3	1426	c.988C>A	c.(988-990)Ctg>Atg	p.L330M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	330						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGAGGCAGCCCTCCAACC	0.418																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(988-990)Ctg>Atg		kelch-like family member 14							95	89	91					18																	30321972		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30321972G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.988C>A	18.37:g.30321972G>T	ENSP00000352314:p.Leu330Met					KLHL14_ENST00000358095.4_Missense_Mutation_p.L330M	p.L330M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			3	1426	-			330					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.988C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834539	0.32421	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.76839	-0.29;-1.05	6.11	1.37	0.22104	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000001	T	0.68943	0.3056	N	0.03983	-0.305	0.37945	D	0.932459	D	0.65815	0.995	D	0.72982	0.979	T	0.68861	-0.5297	10	0.33940	T	0.23	.	9.2446	0.37518	0.7086:0.0:0.2914:0.0	.	330	Q9P2G3	KLH14_HUMAN	M	330	ENSP00000352314:L330M;ENSP00000350808:L330M	ENSP00000350808:L330M	L	-	1	2	KLHL14	28575970	0.004000	0.15560	0.760000	0.31359	0.997000	0.91878	0.097000	0.15168	0.569000	0.29329	0.655000	0.94253	CTG		0.418	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			29	166	1	0	4.3181e-19	1	4.80867e-19	29	166					T	30321972	G	T	30321972	3	4	79	1	0	0	0	0	1	0	0	0	8400	962	34	3	926	3	KLHL14	18	30321972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	349001	30321972	47755276	18028	28345											
KLHL14	57565	broad.mit.edu	37	chr18	30349761	30349761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccgggatgagggcgaagCggaggcgcttcatgaggtca	20	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30349761C>T	ENST00000359358.4	-	2	1232	c.794G>A	c.(793-795)cGc>cAc	p.R265H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R265H|AC012123.1_ENST00000426194.1_5'UTR	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	265	BACK.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAGGGCGAAGCGGAGGCGCTT	0.657																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(793-795)cGc>cAc		kelch-like family member 14							39	42	41					18																	30349761		2203	4299	6502	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349761C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.794G>A	18.37:g.30349761C>T	ENSP00000352314:p.Arg265His					AC012123.1_ENST00000426194.1_5'UTR|KLHL14_ENST00000358095.4_Missense_Mutation_p.R265H	p.R265H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1232	-			265			BACK.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.794G>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414104	0.83449	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.80738	-1.41;-1.41	4.91	4.91	0.64330	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90225	0.6944	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91781	0.5435	10	0.72032	D	0.01	.	17.0807	0.86598	0.0:1.0:0.0:0.0	.	265	Q9P2G3	KLH14_HUMAN	H	265	ENSP00000352314:R265H;ENSP00000350808:R265H	ENSP00000350808:R265H	R	-	2	0	KLHL14	28603759	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.934000	0.70138	2.282000	0.76494	0.455000	0.32223	CGC		0.657	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			85	381	0	0	0	1	0	85	381					T	30349761	C	T	30349761	3	4	79	1	0	0	0	0	1	0	0	0	8400	768	27	1	1124	1	KLHL14	18	30349761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27789	30349761	47727487	18029	28346											
KLHL14	57565	broad.mit.edu	37	chr18	30350152	30350152	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactcgagcaccaggcgcaGcccgatggacgagcagccct	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350152G>T	ENST00000359358.4	-	2	841	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	KLHL14_ENST00000358095.4_Missense_Mutation_p.L135M|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	135	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAGGCGCAGCCCGATGGAC	0.657																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(403-405)Ctg>Atg		kelch-like family member 14							93	96	95					18																	30350152		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350152G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.403C>A	18.37:g.30350152G>T	ENSP00000352314:p.Leu135Met					AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.L135M	p.L135M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	841	-			135			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.403C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	5.630	0.300870	0.10678	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.70749	-0.51;-0.51	4.67	2.86	0.33363	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.52041	0.1710	N	0.25286	0.73	0.47698	D	0.999492	B	0.17268	0.021	B	0.25291	0.059	T	0.37979	-0.9682	10	0.41790	T	0.15	.	4.3797	0.11288	0.2583:0.0:0.5843:0.1574	.	135	Q9P2G3	KLH14_HUMAN	M	135	ENSP00000352314:L135M;ENSP00000350808:L135M	ENSP00000350808:L135M	L	-	1	2	KLHL14	28604150	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.664000	0.54525	0.403000	0.25479	-0.384000	0.06662	CTG		0.657	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			138	641	1	0	4.21949e-90	1	5.41566e-90	138	641					T	30350152	G	T	30350152	3	4	79	1	0	0	0	0	1	0	0	0	8400	962	34	3	1515	3	KLHL14	18	30350152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391	30350152	47727096	18030	28347											
KLHL14	57565	broad.mit.edu	37	chr18	30350182	30350182	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagccctgcagcaccaGgttgttgatggcccgggggc	16	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350182G>A	ENST00000359358.4	-	2	811	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	KLHL14_ENST00000358095.4_Silent_p.L125L|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	125	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGCAGCACCAGGTTGTTGATG	0.682																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(373-375)Ctg>Ttg		kelch-like family member 14							77	84	81					18																	30350182		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350182G>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.373C>T	18.37:g.30350182G>A						AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.L125L	p.L125L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	811	-			125			BTB.		A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.373C>T	CCDS32813.1																																																																																				0.682	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			134	643	0	0	0	1	0	134	643					A	30350182	G	A	30350182	2	1	79	1	0	0	0	0	0	0	0	1	8400	991	35	2		2	KLHL14	18	30350182	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	30350182	47727066	18031	28348											
ASXL3	80816	broad.mit.edu	37	chr18	31324318	31324318	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcttggacctgcagggCagaccagtgaggacagaggc	16	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31324318C>T	ENST00000269197.5	+	12	4506	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1502					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						ACCTGCAGGGCAGACCAGTGA	0.552											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(4504-4506)ggC>ggT		additional sex combs like 3 (Drosophila)							37	39	39					18																	31324318		2202	4299	6501	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324318C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4506C>T	18.37:g.31324318C>T			OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	823		p.G1502G	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	4506	+			1502					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.4506C>T	CCDS45847.1																																																																																				0.552	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			36	157	0	0	0	1	0	36	157					T	31324318	C	T	31324318	2	4	79	1	0	0	0	0	0	0	0	1	1069	697	25	2		2	ASXL3	18	31324318	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	974136	31324318	46752930	18032	28349											
ASXL3	80816	broad.mit.edu	37	chr18	31325027	31325027	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcagggagctcaggctgtCgtctgtcctctgtggaggct	16	10	3	0	rs376309030		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31325027C>T	ENST00000269197.5	+	12	5215	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1739					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						CTCAGGCTGTCGTCTGTCCTC	0.542																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5215-5217)Cgt>Tgt		additional sex combs like 3 (Drosophila)		C	CYS/ARG	0,4064		0,0,2032	74	75	75		5215	5.9	0.7	18		75	1,8401		0,1,4200	no	missense	ASXL3	NM_030632.1	180	0,1,6232	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1739/2249	31325027	1,12465	2032	4201	6233	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325027C>T	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5215C>T	18.37:g.31325027C>T	ENSP00000269197:p.Arg1739Cys						p.R1739C	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5215	+			1739					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5215C>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413428	0.42817	0.0	1.19E-4	ENSG00000141431	ENST00000269197	T	0.17054	2.3	5.86	5.86	0.93980	.	.	.	.	.	T	0.34106	0.0886	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.03068	-1.1076	9	0.66056	D	0.02	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	1739	Q9C0F0	ASXL3_HUMAN	C	1739	ENSP00000269197:R1739C	ENSP00000269197:R1739C	R	+	1	0	ASXL3	29579025	1.000000	0.71417	0.668000	0.29813	0.168000	0.22595	5.359000	0.66074	2.775000	0.95449	0.655000	0.94253	CGT		0.542	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			45	234	0	0	0	1	0	45	234					T	31325027	C	T	31325027	3	4	79	1	0	0	0	0	1	0	0	0	1069	884	31	1	5261	1	ASXL3	18	31325027	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	709	31325027	46752221	18033	28350											
ASXL3	80816	broad.mit.edu	37	chr18	31326314	31326314	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacgagtttcaaaagggcaGcatctgcaattgaaaagtcc	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31326314G>A	ENST00000269197.5	+	12	6502	c.6502G>A	c.(6502-6504)Gca>Aca	p.A2168T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2168					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						CAAAAGGGCAGCATCTGCAAT	0.473																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(6502-6504)Gca>Aca		additional sex combs like 3 (Drosophila)							150	154	152					18																	31326314		1906	4122	6028	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31326314G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6502G>A	18.37:g.31326314G>A	ENSP00000269197:p.Ala2168Thr						p.A2168T	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	6502	+			2168					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.6502G>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699045	0.48307	.	.	ENSG00000141431	ENST00000269197	T	0.18960	2.18	6.17	5.31	0.75309	.	.	.	.	.	T	0.17450	0.0419	N	0.24115	0.695	0.41608	D	0.988892	B	0.20052	0.041	B	0.20184	0.028	T	0.02654	-1.1128	9	0.54805	T	0.06	.	15.6259	0.76855	0.0653:0.0:0.9347:0.0	.	2168	Q9C0F0	ASXL3_HUMAN	T	2168	ENSP00000269197:A2168T	ENSP00000269197:A2168T	A	+	1	0	ASXL3	29580312	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.456000	0.66665	1.634000	0.50500	0.655000	0.94253	GCA		0.473	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			161	634	0	0	0	1	0	161	634					A	31326314	G	A	31326314	3	1	79	1	0	0	0	0	1	0	0	0	1069	971	34	2	6548	2	ASXL3	18	31326314	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1287	31326314	46750934	18034	28351											
NOL4	8715	broad.mit.edu	37	chr18	31463241	31463241	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	atcattcagatttagcagacCccctcctagccctctgtaac	5	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31463241C>G	ENST00000261592.5	-	10	1987	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	NOL4_ENST00000535475.1_Missense_Mutation_p.G345R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	564						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						TTTAGCAGACCCCCTCCTAGC	0.408																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1690-1692)Ggt>Cgt		nucleolar protein 4							187	164	172					18																	31463241		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31463241C>G	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.1690G>C	18.37:g.31463241C>G	ENSP00000261592:p.Gly564Arg					NOL4_ENST00000538587.1_Missense_Mutation_p.G490R|NOL4_ENST00000589544.1_Missense_Mutation_p.G462R|NOL4_ENST00000269185.4_Missense_Mutation_p.G348R|NOL4_ENST00000535384.1_Missense_Mutation_p.G279R|NOL4_ENST00000535475.1_Missense_Mutation_p.G345R	p.G564R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			10	1987	-			564					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1690G>C	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338414	0.81911	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535384;ENST00000535475;ENST00000538587	.	.	.	5.7	5.7	0.88788	.	0.077818	0.53938	D	0.000046	T	0.73745	0.3626	L	0.43152	1.355	0.53688	D	0.999978	P;P;P;B;D;D	0.89917	0.73;0.773;0.773;0.435;1.0;0.988	B;B;B;B;D;P	0.87578	0.316;0.316;0.232;0.157;0.998;0.824	T	0.67711	-0.5600	9	0.25751	T	0.34	-13.3835	19.8045	0.96525	0.0:1.0:0.0:0.0	.	279;490;564;279;462;345	B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.;.	R	564;348;279;345;490	.	ENSP00000261592:G564R	G	-	1	0	NOL4	29717239	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.639000	0.67868	2.676000	0.91093	0.563000	0.77884	GGT		0.408	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		65	997	0	0	0	1	0	65	997					G	31463241	C	G	31463241	3	3	79	1	0	0	0	0	1	0	0	0	10566	623	22	5	234	5	NOL4	18	31463241	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136927	31463241	46614007	18035	28352											
NOL4	8715	broad.mit.edu	37	chr18	31523032	31523032	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatgcctcagtacctgCtgtctctccagacgcatcct	7	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31523032C>T	ENST00000261592.5	-	9	1836	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	NOL4_ENST00000535475.1_Silent_p.Q294Q|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	513						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						TCAGTACCTGCTGTCTCTCCA	0.433																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1537-1539)caG>caA		nucleolar protein 4							105	93	97					18																	31523032		2203	4299	6502	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31523032C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1539G>A	18.37:g.31523032C>T						NOL4_ENST00000538587.1_Silent_p.Q439Q|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Silent_p.Q228Q|NOL4_ENST00000535475.1_Silent_p.Q294Q	p.Q513Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			9	1836	-			513					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.1539G>A	CCDS11907.2																																																																																				0.433	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		73	310	0	0	0	1	0	73	310					T	31523032	C	T	31523032	2	4	79	1	0	0	0	0	0	0	0	1	10566	796	28	2		2	NOL4	18	31523032	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59791	31523032	46554216	18036	28353											
NOL4	8715	broad.mit.edu	37	chr18	31537445	31537445	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagagattgggaccattcGgtccaagttttcatctacaa	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31537445G>A	ENST00000261592.5	-	8	1570	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	NOL4_ENST00000535475.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000589544.1_Intron	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	425						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						GGGACCATTCGGTCCAAGTTT	0.488																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1273-1275)Cga>Tga		nucleolar protein 4							90	74	80					18																	31537445		2203	4300	6503	SO:0001587	stop_gained	8715					nucleolus	RNA binding	g.chr18:31537445G>A	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.1273C>T	18.37:g.31537445G>A	ENSP00000261592:p.Arg425*					NOL4_ENST00000538587.1_Nonsense_Mutation_p.R351*|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000535384.1_Nonsense_Mutation_p.R140*|NOL4_ENST00000535475.1_Intron	p.R425*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			8	1570	-			425					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Nonsense_Mutation	SNP	ENST00000261592.5	37	c.1273C>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	40	8.247237	0.98724	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4849	20.5073	0.99209	0.0:0.0:1.0:0.0	.	.	.	.	X	425;140;351	.	ENSP00000261592:R425X	R	-	1	2	NOL4	29791443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.855000	0.98099	0.585000	0.79938	CGA		0.488	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		30	179	0	0	0	1	0	30	179					A	31537445	G	A	31537445	4	1	79	1	0	0	0	0	0	1	0	0	10566	1124	39	1	659	1	NOL4	18	31537445	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14413	31537445	46539803	18037	28354											
MAPRE2	10982	broad.mit.edu	37	chr18	32681940	32681940	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagaagctagtgaaaggaCgtttccaggacaacctggat	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32681940C>T	ENST00000300249.5	+	4	607	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000436190.2_Missense_Mutation_p.R131C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	143	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGTGAAAGGACGTTTCCAGGA	0.398																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(391-393)Cgt>Tgt		microtubule-associated protein, RP/EB family, member 2							76	71	73					18																	32681940		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32681940C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.427C>T	18.37:g.32681940C>T	ENSP00000300249:p.Arg143Cys					MAPRE2_ENST00000588910.1_Missense_Mutation_p.R143C|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R90C|MAPRE2_ENST00000300249.5_Missense_Mutation_p.R143C|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R100C|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R100C	p.R131C	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			5	665	+			143			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.391C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207572	0.58343	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.28	5.28	0.74379	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.59783	0.2219	M	0.93241	3.395	0.80722	D	1	P;B;B;B	0.39282	0.666;0.058;0.152;0.093	B;B;B;B	0.37989	0.262;0.01;0.059;0.142	T	0.69859	-0.5031	10	0.52906	T	0.07	-8.5856	13.814	0.63281	0.1533:0.8467:0.0:0.0	.	131;90;143;143	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	C	100;131;143;90	ENSP00000396074:R100C;ENSP00000407723:R131C;ENSP00000300249:R143C;ENSP00000446343:R90C	ENSP00000300249:R143C	R	+	1	0	MAPRE2	30935938	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.717000	0.61923	2.461000	0.83175	0.561000	0.74099	CGT		0.398	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		56	292	0	0	0	1	0	56	292					T	32681940	C	T	32681940	3	4	79	1	0	0	0	0	1	0	0	0	9336	536	19	1	535	1	MAPRE2	18	32681940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1144495	32681940	45395308	18038	28355											
MAPRE2	10982	broad.mit.edu	37	chr18	32720277	32720277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagggccacacagaagagCcggaagcagaggagcaagcc	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32720277C>T	ENST00000300249.5	+	7	1108	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S	MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000436190.2_Missense_Mutation_p.P298S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	310	DCTN1-binding.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGAAGAGCCGGAAGCAGA	0.602																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(892-894)Ccg>Tcg		microtubule-associated protein, RP/EB family, member 2							79	86	84					18																	32720277		2201	4300	6501	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32720277C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.928C>T	18.37:g.32720277C>T	ENSP00000300249:p.Pro310Ser					MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257S|MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267S	p.P298S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			8	1166	+			310			APC-binding.|DCTN1-binding.|EB1 C-terminal.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.892C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	8.891	0.954079	0.18431	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.42513	1.0;0.97;0.99;0.97	5.42	3.55	0.40652	.	0.426342	0.26143	N	0.026096	T	0.24353	0.0590	N	0.14661	0.345	0.31443	N	0.671777	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.09377	0.001;0.004;0.003	T	0.17018	-1.0383	10	0.09843	T	0.71	-1.0451	14.0384	0.64660	0.0:0.7117:0.2883:0.0	.	298;257;310	E9PHR3;F5H1V8;Q15555	.;.;MARE2_HUMAN	S	267;298;310;257	ENSP00000396074:P267S;ENSP00000407723:P298S;ENSP00000300249:P310S;ENSP00000446343:P257S	ENSP00000300249:P310S	P	+	1	0	MAPRE2	30974275	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	3.233000	0.51311	0.585000	0.29608	0.563000	0.77884	CCG		0.602	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		19	109	0	0	0	1	0	19	109					T	32720277	C	T	32720277	3	4	79	1	0	0	0	0	1	0	0	0	9336	739	26	2	1048	2	MAPRE2	18	32720277	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38337	32720277	45356971	18039	28356											
ZNF24	7572	broad.mit.edu	37	chr18	32917607	32917607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctgcccttggggaaacaGgtttctccatatttaaaaat	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32917607G>A	ENST00000261332.6	-	4	875	c.696C>T	c.(694-696)acC>acT	p.T232T	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.T232T	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	232					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						TGGGGAAACAGGTTTCTCCAT	0.433																																					Colon(42;769 913 8916 19469 46270)	ENST00000261332.6																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(694-696)acC>acT		zinc finger protein 24							89	99	95					18																	32917607		2203	4298	6501	SO:0001819	synonymous_variant	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32917607G>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.696C>T	18.37:g.32917607G>A						ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.T232T	p.T232T	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN			4	875	-			232					O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	ENST00000261332.6	37	c.696C>T	CCDS11912.1																																																																																				0.433	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		97	472	0	0	0	1	0	97	472					A	32917607	G	A	32917607	2	1	79	1	0	0	0	0	0	0	0	1	17845	987	35	2		2	ZNF24	18	32917607	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197330	32917607	45159641	18040	28357											
ZNF24	7572	broad.mit.edu	37	chr18	32920370	32920370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtgtgcgtctctggcCtgagccacagacggcaaagt	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32920370C>A	ENST00000261332.6	-	2	424	c.245G>T	c.(244-246)aGg>aTg	p.R82M	ZNF24_ENST00000589881.1_Missense_Mutation_p.R82M|ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	82	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CGTCTCTGGCCTGAGCCACAG	0.532																																					Colon(42;769 913 8916 19469 46270)	ENST00000589881.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(244-246)aGg>aTg		zinc finger protein 24							122	125	124					18																	32920370		2203	4300	6503	SO:0001583	missense	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32920370C>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.245G>T	18.37:g.32920370C>A	ENSP00000261332:p.Arg82Met					ZNF24_ENST00000261332.6_Missense_Mutation_p.R82M|ZNF24_ENST00000399061.3_Missense_Mutation_p.R82M	p.R82M			P17028	ZNF24_HUMAN			1	248	-			82			SCAN box.		O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	c.245G>T	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800801	0.70567	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.06371	3.31;3.31	4.59	4.59	0.56863	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.56097	D	0.000028	T	0.27027	0.0662	M	0.92268	3.29	0.36671	D	0.878472	D;D	0.76494	0.999;0.985	D;P	0.64237	0.923;0.764	T	0.26710	-1.0095	10	0.56958	D	0.05	.	8.8053	0.34934	0.0:0.9001:0.0:0.0999	.	82;82	P17028-2;P17028	.;ZNF24_HUMAN	M	82	ENSP00000261332:R82M;ENSP00000382015:R82M	ENSP00000261332:R82M	R	-	2	0	ZNF24	31174368	0.997000	0.39634	1.000000	0.80357	0.978000	0.69477	1.848000	0.39309	2.563000	0.86464	0.650000	0.86243	AGG		0.532	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		96	902	1	0	6.64032e-35	1	7.9137e-35	96	902					A	32920370	C	A	32920370	3	1	79	1	0	0	0	0	1	0	0	0	17845	681	24	3	873	3	ZNF24	18	32920370	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2763	32920370	45156878	18041	28358											
INO80C	125476	broad.mit.edu	37	chr18	33060428	33060428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgcttaccacaaagttggGatccttaaatggcaaaggtt	10	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33060428G>A	ENST00000334598.7	-	2	372	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000592173.1_Missense_Mutation_p.P86S|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000590757.1_Intron	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	86					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488																																						ENST00000592173.1																			0				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						c.(256-258)Ccc>Tcc		INO80 complex subunit C							169	152	158					18																	33060428		2203	4300	6503	SO:0001583	missense	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33060428G>A		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.256C>T	18.37:g.33060428G>A	ENSP00000334473:p.Pro86Ser					INO80C_ENST00000441607.2_Missense_Mutation_p.P122S|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000334598.7_Missense_Mutation_p.P86S|INO80C_ENST00000586489.1_Missense_Mutation_p.P31S|INO80C_ENST00000590757.1_Intron	p.P86S			Q6PI98	IN80C_HUMAN			2	314	-			86					B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	37	c.256C>T	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142462	0.57044	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	6.02	6.02	0.97574	.	0.058844	0.64402	D	0.000001	T	0.73753	0.3627	L	0.52573	1.65	0.58432	D	0.999994	D;B;D	0.76494	0.958;0.172;0.999	P;B;D	0.68943	0.63;0.062;0.961	T	0.71938	-0.4441	9	0.46703	T	0.11	.	16.0374	0.80640	0.0:0.0:1.0:0.0	.	122;86;86	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	S	86;122;86	.	ENSP00000283410:P86S	P	-	1	0	INO80C	31314426	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.061000	0.71148	2.857000	0.98124	0.650000	0.86243	CCC		0.488	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281		70	330	0	0	0	1	0	70	330					A	33060428	G	A	33060428	3	1	79	1	0	0	0	0	1	0	0	0	7778	1174	41	2	338	2	INO80C	18	33060428	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140058	33060428	45016820	18042	28359											
GALNT1	2589	broad.mit.edu	37	chr18	33234660	33234660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catactgcaaggtggtcctaGccacctccttgatttgggta	10	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33234660G>T	ENST00000269195.5	+	1	137	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	12					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GGTGGTCCTAGCCACCTCCTT	0.348																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(34-36)Gcc>Tcc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							94	75	81					18																	33234660		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33234660G>T		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.34G>T	18.37:g.33234660G>T	ENSP00000269195:p.Ala12Ser					GALNT1_ENST00000591081.1_Missense_Mutation_p.A12S|GALNT1_ENST00000537549.1_5'UTR	p.A12S	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			1	137	+			12					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.34G>T	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110703	0.56398	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.55760	0.5	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	M	0.65498	2.005	0.80722	D	1	P	0.38148	0.62	B	0.43575	0.424	T	0.60900	-0.7171	10	0.51188	T	0.08	.	17.6198	0.88077	0.0:0.0:1.0:0.0	.	12	Q10472	GALT1_HUMAN	S	12	ENSP00000269195:A12S	ENSP00000269195:A12S	A	+	1	0	GALNT1	31488658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.819000	0.62664	2.749000	0.94314	0.655000	0.94253	GCC		0.348	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		28	135	1	0	2.44723e-14	1	2.65813e-14	28	135					T	33234660	G	T	33234660	3	4	79	1	0	0	0	0	1	0	0	0	6235	971	34	3	36	3	GALNT1	18	33234660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	174232	33234660	44842588	18043	28360											
C18orf21	83608	broad.mit.edu	37	chr18	33557545	33557545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctggctcgaaaggcaagaGcccagcatcggttttcaggt	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33557545G>A	ENST00000592875.1	+	4	1119	c.473G>A	c.(472-474)aGc>aAc	p.S158N	C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	158										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAAGGCAAGAGCCCAGCATCG	0.413																																						ENST00000592875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						c.(472-474)aGc>aAc		chromosome 18 open reading frame 21							89	86	87					18																	33557545		2203	4300	6503	SO:0001583	missense	83608							g.chr18:33557545G>A	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.473G>A	18.37:g.33557545G>A	ENSP00000465517:p.Ser158Asn					C18orf21_ENST00000333234.5_Missense_Mutation_p.S70N	p.S158N	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN			4	1119	+			158					Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	c.473G>A	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.540082	0.45176	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	T	0.53423	0.62	5.65	3.86	0.44501	.	0.320112	0.40554	N	0.001075	T	0.65811	0.2727	M	0.78637	2.42	0.31608	N	0.651927	D	0.89917	1.0	D	0.85130	0.997	T	0.71094	-0.4692	10	0.72032	D	0.01	.	9.0176	0.36179	0.1709:0.0:0.8291:0.0	.	158	Q32NC0	CR021_HUMAN	N	158;70	ENSP00000269194:S70N	ENSP00000269194:S70N	S	+	2	0	C18orf21	31811543	0.996000	0.38824	0.993000	0.49108	0.273000	0.26683	1.985000	0.40668	0.853000	0.35312	0.650000	0.86243	AGC		0.413	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		63	270	0	0	0	1	0	63	270					A	33557545	G	A	33557545	3	1	79	1	0	0	0	0	1	0	0	0	1904	971	34	2	487	2	C18orf21	18	33557545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322885	33557545	44519703	18044	28361											
MOCOS	55034	broad.mit.edu	37	chr18	33780166	33780166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttcctacaggcctgggcGctctgctggtccataatcgt	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33780166G>A	ENST00000261326.5	+	4	841	c.820G>A	c.(820-822)Gct>Act	p.A274T		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGCCTGGGCGCTCTGCTGGT	0.562																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(820-822)Gct>Act		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						52	49	50					18																	33780166		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33780166G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.820G>A	18.37:g.33780166G>A	ENSP00000261326:p.Ala274Thr						p.A274T	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			4	841	+			274						Missense_Mutation	SNP	ENST00000261326.5	37	c.820G>A	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730474	0.89390	.	.	ENSG00000075643	ENST00000261326	D	0.87491	-2.26	5.65	5.65	0.86999	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.95802	0.8634	H	0.95982	3.75	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.96869	0.9638	10	0.87932	D	0	-17.3464	17.225	0.86967	0.0:0.0:1.0:0.0	.	274	Q96EN8	MOCOS_HUMAN	T	274	ENSP00000261326:A274T	ENSP00000261326:A274T	A	+	1	0	MOCOS	32034164	1.000000	0.71417	0.691000	0.30163	0.516000	0.34256	9.708000	0.98727	2.677000	0.91161	0.561000	0.74099	GCT		0.562	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			14	264	0	0	0	1	0	14	264					A	33780166	G	A	33780166	3	1	79	1	0	0	0	0	1	0	0	0	9730	1087	38	1	834	1	MOCOS	18	33780166	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	222621	33780166	44297082	18045	28362											
MOCOS	55034	broad.mit.edu	37	chr18	33795562	33795562	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcatttggatacatgtcGacgctggatgatgtccaggc	11	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33795562G>A	ENST00000261326.5	+	8	1440	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATACATGTCGACGCTGGATG	0.542																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1417-1419)tcG>tcA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						72	71	71					18																	33795562		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33795562G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1419G>A	18.37:g.33795562G>A							p.S473S	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			8	1440	+			473						Silent	SNP	ENST00000261326.5	37	c.1419G>A	CCDS11919.1																																																																																				0.542	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			36	191	0	0	0	1	0	36	191					A	33795562	G	A	33795562	2	1	79	1	0	0	0	0	0	0	0	1	9730	1045	37	1		1	MOCOS	18	33795562	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15396	33795562	44281686	18046	28363											
FHOD3	80206	broad.mit.edu	37	chr18	33935590	33935590	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgggatgagttggaagGcttccaggatgacgccgggt	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33935590G>A	ENST00000359247.4	+	2	254	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000257209.4_Missense_Mutation_p.G85D|FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	85	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)				GAGTTGGAAGGCTTCCAGGAT	0.547																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(253-255)gGc>gAc		formin homology 2 domain containing 3							89	73	79					18																	33935590		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:33935590G>A	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.254G>A	18.37:g.33935590G>A	ENSP00000352186:p.Gly85Asp					FHOD3_ENST00000590592.1_Missense_Mutation_p.G85D|FHOD3_ENST00000445677.1_Missense_Mutation_p.G85D|FHOD3_ENST00000359247.4_Missense_Mutation_p.G85D	p.G85D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			2	376	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	85			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.254G>A		.	.	.	.	.	.	.	.	.	.	G	29.7	5.031482	0.93575	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.22134	1.97;1.97;1.97	6.06	6.06	0.98353	GTPase-binding/formin homology 3 (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.58810	1.83	0.52501	D	0.999959	D;D;P	0.89917	0.999;1.0;0.585	D;D;B	0.87578	0.987;0.998;0.109	T	0.12091	-1.0561	10	0.56958	D	0.05	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	85;85;85	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	D	85	ENSP00000257209:G85D;ENSP00000352186:G85D;ENSP00000411430:G85D	ENSP00000257209:G85D	G	+	2	0	FHOD3	32189588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.405000	0.97313	2.882000	0.98803	0.655000	0.94253	GGC		0.547	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		31	196	0	0	0	1	0	31	196					A	33935590	G	A	33935590	3	1	79	1	0	0	0	0	1	0	0	0	5908	1203	42	2	260	2	FHOD3	18	33935590	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140028	33935590	44141658	18047	28364											
FHOD3	80206	broad.mit.edu	37	chr18	34205676	34205676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcccagtcagctcccaGcttcaagcccaaccaagtgc	7	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34205676G>A	ENST00000359247.4	+	10	1160	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000257209.4_Missense_Mutation_p.S387N|FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N|FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	387	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)				TCAGCTCCCAGCTTCAAGCCC	0.607																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1159-1161)aGc>aAc		formin homology 2 domain containing 3							120	123	122					18																	34205676		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34205676G>A	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.1160G>A	18.37:g.34205676G>A	ENSP00000352186:p.Ser387Asn					FHOD3_ENST00000590592.1_Missense_Mutation_p.S387N|FHOD3_ENST00000445677.1_Missense_Mutation_p.S387N|FHOD3_ENST00000359247.4_Missense_Mutation_p.S387N|FHOD3_ENST00000591635.1_Missense_Mutation_p.A62T	p.S387N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			10	1282	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	387			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.1160G>A		.	.	.	.	.	.	.	.	.	.	G	8.011	0.757616	0.15846	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23754	1.89;1.89;1.89	5.18	1.13	0.20643	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.639052	0.17160	N	0.184714	T	0.07369	0.0186	N	0.01438	-0.865	0.21802	N	0.999535	B;B;B;B	0.14805	0.005;0.0;0.0;0.011	B;B;B;B	0.11329	0.003;0.001;0.001;0.006	T	0.38178	-0.9673	10	0.15066	T	0.55	.	6.0063	0.19549	0.1994:0.3673:0.4333:0.0	.	387;387;387;387	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	N	387	ENSP00000257209:S387N;ENSP00000352186:S387N;ENSP00000411430:S387N	ENSP00000257209:S387N	S	+	2	0	FHOD3	32459674	0.009000	0.17119	0.137000	0.22149	0.985000	0.73830	0.334000	0.19787	0.138000	0.18790	0.655000	0.94253	AGC		0.607	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		76	850	0	0	0	1	0	76	850					A	34205676	G	A	34205676	3	1	79	1	0	0	0	0	1	0	0	0	5908	971	34	2	1198	2	FHOD3	18	34205676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270086	34205676	43871572	18048	28365											
FHOD3	80206	broad.mit.edu	37	chr18	34289191	34289191	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagactgaagtggagcaggcActagagcaagagccggaaga	16	7	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34289191A>G	ENST00000359247.4	+	14	1794	c.1794A>G	c.(1792-1794)gcA>gcG	p.A598A	FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000257209.4_Silent_p.A615A|FHOD3_ENST00000590592.1_Silent_p.A790A|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	598					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)				TGGAGCAGGCACTAGAGCAAG	0.602																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1843-1845)gcA>gcG		formin homology 2 domain containing 3							72	78	76					18																	34289191		2203	4300	6503	SO:0001819	synonymous_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34289191A>G	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.1794A>G	18.37:g.34289191A>G						FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000590592.1_Silent_p.A790A|FHOD3_ENST00000445677.1_Silent_p.A577A|FHOD3_ENST00000359247.4_Silent_p.A598A|FHOD3_ENST00000591635.1_Intron	p.A615A	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			15	1967	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	598					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Silent	SNP	ENST00000359247.4	37	c.1845A>G																																																																																					0.602	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		110	482	0	0	0	1	0	110	482					G	34289191	A	G	34289191	2	3	79	1	0	0	0	0	0	0	0	1	5908	146	6	4		4	FHOD3	18	34289191	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	83515	34289191	43788057	18049	28366											
FHOD3	80206	broad.mit.edu	37	chr18	34310720	34310720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaggacgattaagatcGccattttgaattttgatgag	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34310720G>A	ENST00000359247.4	+	16	2953	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000257209.4_Missense_Mutation_p.A1002T|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	985	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)				GATTAAGATCGCCATTTTGAA	0.398																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(3004-3006)Gcc>Acc		formin homology 2 domain containing 3							113	102	106					18																	34310720		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34310720G>A	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.2953G>A	18.37:g.34310720G>A	ENSP00000352186:p.Ala985Thr					FHOD3_ENST00000590592.1_Missense_Mutation_p.A1177T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A964T|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000359247.4_Missense_Mutation_p.A985T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A198T	p.A1002T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			17	3126	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	985			FH2.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.3004G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.607431	0.96626	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.23348	1.91;1.91;1.91	5.6	5.6	0.85130	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.61813	0.2377	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.992	T	0.70461	-0.4865	10	0.87932	D	0	.	18.1936	0.89814	0.0:0.0:1.0:0.0	.	964;985;1002	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	T	1002;985;964	ENSP00000257209:A1002T;ENSP00000352186:A985T;ENSP00000411430:A964T	ENSP00000257209:A1002T	A	+	1	0	FHOD3	32564718	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.756000	0.98918	2.629000	0.89072	0.557000	0.71058	GCC		0.398	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		29	341	0	0	0	1	0	29	341					A	34310720	G	A	34310720	3	1	79	1	0	0	0	0	1	0	0	0	5908	1087	38	1	3070	1	FHOD3	18	34310720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21529	34310720	43766528	18050	28367											
C18orf10	25941	broad.mit.edu	37	chr18	34385438	34385438	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttgagatgctgttaattGccatgcttcccagtggaatg	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34385438G>A	ENST00000334295.4	-	4	708	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TPGS2_ENST00000587129.1_Missense_Mutation_p.A94V|TPGS2_ENST00000590842.1_Missense_Mutation_p.A94V|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000589049.1_Missense_Mutation_p.A94V|TPGS2_ENST00000593035.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	94						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCTGTTAATTGCCATGCTTCC	0.453																																						ENST00000334295.4																			0											c.(280-282)gCa>gTa		tubulin polyglutamylase complex subunit 2							285	238	254					18																	34385438		2203	4300	6503	SO:0001583	missense	25941					cytoplasm|microtubule		g.chr18:34385438G>A	BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 10"	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.281C>T	18.37:g.34385438G>A	ENSP00000335144:p.Ala94Val					TPGS2_ENST00000593035.1_Intron|TPGS2_ENST00000589049.1_Missense_Mutation_p.A94V|TPGS2_ENST00000590842.1_Missense_Mutation_p.A94V|TPGS2_ENST00000383056.3_Intron|TPGS2_ENST00000587129.1_Missense_Mutation_p.A94V	p.A94V	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN			4	708	-			94					B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Missense_Mutation	SNP	ENST00000334295.4	37	c.281C>T	CCDS32817.1	.	.	.	.	.	.	.	.	.	.	G	2.300	-0.360289	0.05103	.	.	ENSG00000134779	ENST00000334295	T	0.28069	1.63	5.7	1.34	0.21922	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.796894	0.11948	N	0.513942	T	0.08582	0.0213	N	0.01352	-0.895	0.20074	N	0.999934	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.35674	-0.9779	10	0.02654	T	1	0.2599	7.9957	0.30267	0.5525:0.0:0.4475:0.0	.	94;94	Q68CL5-3;Q68CL5	.;TPGS2_HUMAN	V	94	ENSP00000335144:A94V	ENSP00000335144:A94V	A	-	2	0	C18orf10	32639436	0.975000	0.34042	0.987000	0.45799	0.508000	0.34012	1.522000	0.35921	0.335000	0.23614	0.655000	0.94253	GCA		0.453	TPGS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440410.2	NM_015476		111	492	0	0	0	1	0	111	492					A	34385438	G	A	34385438	3	1	79	1	0	0	0	0	1	0	0	0	1902	1319	46	2	637	2	C18orf10	18	34385438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74718	34385438	43691810	18051	28368											
KIAA1328	57536	broad.mit.edu	37	chr18	34802046	34802046	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgcccaaacctcagcgCtatccctccagagaagctgg	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802046C>T	ENST00000280020.5	+	10	1612	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	KIAA1328_ENST00000543923.1_Silent_p.R422R|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Silent_p.R526R	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	530										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)		AACCTCAGCGCTATCCCTCCA	0.498																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1576-1578)cgC>cgT		KIAA1328							62	58	59					18																	34802046		1870	4103	5973	SO:0001819	synonymous_variant	57536							g.chr18:34802046C>T	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.1590C>T	18.37:g.34802046C>T						KIAA1328_ENST00000543923.1_Silent_p.R422R|KIAA1328_ENST00000280020.5_Silent_p.R530R|KIAA1328_ENST00000586135.1_3'UTR	p.R526R			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	10	2364	+			530					Q05DL0|Q49AG6|Q9P2L8	Silent	SNP	ENST00000280020.5	37	c.1578C>T	CCDS45855.1																																																																																				0.498	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		21	116	0	0	0	1	0	21	116					T	34802046	C	T	34802046	2	4	79	1	0	0	0	0	0	0	0	1	8255	784	28	2		2	KIAA1328	18	34802046	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416608	34802046	43275202	18052	28369											
KIAA1328	57536	broad.mit.edu	37	chr18	34802090	34802090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggaatcatggtactttccGactcagtcctctaaaatcaa	6	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802090G>A	ENST00000280020.5	+	10	1656	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000591619.1_Missense_Mutation_p.R541Q	NM_020776.1	NP_065827.1	Q86T90	K1328_HUMAN	KIAA1328	545										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)		GGTACTTTCCGACTCAGTCCT	0.478																																						ENST00000591619.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1621-1623)cGa>cAa		KIAA1328							45	42	43					18																	34802090		1864	4105	5969	SO:0001583	missense	57536							g.chr18:34802090G>A	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.1634G>A	18.37:g.34802090G>A	ENSP00000280020:p.Arg545Gln					KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545Q|KIAA1328_ENST00000586135.1_3'UTR	p.R541Q			Q86T90	K1328_HUMAN		COAD - Colon adenocarcinoma(74;0.195)	10	2408	+			545					Q05DL0|Q49AG6|Q9P2L8	Missense_Mutation	SNP	ENST00000280020.5	37	c.1622G>A	CCDS45855.1	.	.	.	.	.	.	.	.	.	.	G	4.084	0.013449	0.07959	.	.	ENSG00000150477	ENST00000280020;ENST00000383055	T	0.47869	0.83	5.93	-3.18	0.05186	.	0.790748	0.11311	N	0.577100	T	0.31009	0.0783	L	0.50333	1.59	0.09310	N	1	B;B	0.27971	0.002;0.196	B;B	0.15052	0.002;0.012	T	0.20505	-1.0273	10	0.18276	T	0.48	.	5.9963	0.19495	0.484:0.0:0.3084:0.2077	.	545;545	A8K8C3;Q86T90	.;K1328_HUMAN	Q	545	ENSP00000280020:R545Q	ENSP00000280020:R545Q	R	+	2	0	KIAA1328	33056088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.898000	0.04105	-0.552000	0.06167	-0.914000	0.02751	CGA		0.478	KIAA1328-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440455.1	NM_020776		14	87	0	0	0	1	0	14	87					A	34802090	G	A	34802090	3	1	79	1	0	0	0	0	1	0	0	0	8255	1058	37	1	1672	1	KIAA1328	18	34802090	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44	34802090	43275158	18053	28370											
CELF4	56853	broad.mit.edu	37	chr18	34839169	34839169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggaacatctgcatcagCtcagcgtccccaaactcctg	10	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34839169C>T	ENST00000591282.1	-	11	1307	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000420428.2_Silent_p.E436E|CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000601019.1_Silent_p.E434E|CELF4_ENST00000588597.1_Silent_p.E424E			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	436	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						TCTGCATCAGCTCAGCGTCCC	0.562																																						ENST00000420428.2																			0				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						c.(1306-1308)gaG>gaA		CUGBP, Elav-like family member 4							75	64	67					18																	34839169		2203	4300	6503	SO:0001819	synonymous_variant	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34839169C>T	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.1308G>A	18.37:g.34839169C>T						CELF4_ENST00000412753.1_Silent_p.E435E|CELF4_ENST00000603232.1_Silent_p.E435E|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000361795.5_Silent_p.E434E|CELF4_ENST00000588597.1_Silent_p.E424E|CELF4_ENST00000591287.1_Silent_p.E434E|CELF4_ENST00000591282.1_Silent_p.E436E|CELF4_ENST00000601019.1_Silent_p.E434E	p.E436E	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			11	1703	-			436			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	ENST00000591282.1	37	c.1308G>A	CCDS32818.1																																																																																				0.562	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		29	145	0	0	0	1	0	29	145					T	34839169	C	T	34839169	2	4	79	1	0	0	0	0	0	0	0	1	3227	796	28	2		2	CELF4	18	34839169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37079	34839169	43238079	18054	28371											
CELF4	56853	broad.mit.edu	37	chr18	34853000	34853000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggttggggtcataggtgCggccgccaggccattcatgt	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34853000C>T	ENST00000591282.1	-	7	927	c.928G>A	c.(928-930)Gca>Aca	p.A310T	CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000420428.2_Missense_Mutation_p.A310T|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000601019.1_Missense_Mutation_p.A308T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	310	Ala-rich.				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						GTCATAGGTGCGGCCGCCAGG	0.657																																						ENST00000420428.2																			0				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						c.(928-930)Gca>Aca		CUGBP, Elav-like family member 4							26	30	29					18																	34853000		2203	4298	6501	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853000C>T	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.928G>A	18.37:g.34853000C>T	ENSP00000464794:p.Ala310Thr					CELF4_ENST00000412753.1_Missense_Mutation_p.A309T|CELF4_ENST00000603232.1_Missense_Mutation_p.A309T|CELF4_ENST00000334919.5_Missense_Mutation_p.A300T|CELF4_ENST00000361795.5_Missense_Mutation_p.A308T|CELF4_ENST00000588597.1_Missense_Mutation_p.A299T|CELF4_ENST00000591287.1_Missense_Mutation_p.A309T|CELF4_ENST00000591282.1_Missense_Mutation_p.A310T|CELF4_ENST00000601019.1_Missense_Mutation_p.A308T	p.A310T	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			7	1323	-			310			Ala-rich.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.928G>A	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.382003|1.382003	0.24944|0.24944	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919|ENST00000361683	T;T;T|.	0.75477|.	-0.86;-0.88;-0.94|.	5.22|5.22	4.34|4.34	0.51931|0.51931	Nucleotide-binding, alpha-beta plait (1);|.	0.150427|.	0.64402|.	N|.	0.000014|.	T|T	0.51770|0.51770	0.1694|0.1694	N|N	0.25992|0.25992	0.78|0.78	0.48452|0.48452	D|D	0.99965|0.99965	B;B;B;B;B;B|.	0.27679|.	0.025;0.014;0.185;0.172;0.025;0.007|.	B;B;B;B;B;B|.	0.23275|.	0.022;0.008;0.021;0.045;0.014;0.004|.	T|T	0.53129|0.53129	-0.8482|-0.8482	10|6	0.10902|0.48119	T|T	0.67|0.1	-2.8965|-2.8965	10.9845|10.9845	0.47514|0.47514	0.0:0.8504:0.0:0.1496|0.0:0.8504:0.0:0.1496	.|.	308;299;35;300;309;310|.	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1|.	.;.;.;.;.;CELF4_HUMAN|.	T|H	310;309;308;300|192	ENSP00000406823:A309T;ENSP00000410584:A308T;ENSP00000335631:A300T|.	ENSP00000335631:A300T|ENSP00000355189:R192H	A|R	-|-	1|2	0|0	CELF4|CELF4	33106998|33106998	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.949000|2.949000	0.49074|0.49074	1.427000|1.427000	0.47276|0.47276	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.657	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		52	261	0	0	0	1	0	52	261					T	34853000	C	T	34853000	3	4	79	1	0	0	0	0	1	0	0	0	3227	768	27	1	556	1	CELF4	18	34853000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13831	34853000	43224248	18055	28372											
PIK3C3	5289	broad.mit.edu	37	chr18	39620653	39620653	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtaggcttcatgcagtTtatccagtcagttcctgtgg	11	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39620653T>G	ENST00000262039.4	+	19	2137	c.2051T>G	c.(2050-2052)tTt>tGt	p.F684C	PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	684	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)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTCATGCAGTTTATCCAGTCA	0.358										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2050-2052)tTt>tGt		phosphatidylinositol 3-kinase, catalytic subunit type 3							181	170	173					18																	39620653		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39620653T>G	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.2051T>G	18.37:g.39620653T>G	ENSP00000262039:p.Phe684Cys	TSP Lung(28;0.18)				PIK3C3_ENST00000587402.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F169C|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F31C|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F621C	p.F684C	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			19	2137	+			684			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2051T>G	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117974	0.77323	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81739	-1.53;-1.53	5.74	5.74	0.90152	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.045884	0.85682	D	0.000000	D	0.86556	0.5961	L	0.49350	1.555	0.80722	D	1	P;D;P	0.89917	0.584;1.0;0.521	B;D;P	0.74348	0.382;0.983;0.493	D	0.85786	0.1364	9	.	.	.	.	16.0331	0.80597	0.0:0.0:0.0:1.0	.	621;621;684	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	C	684;621	ENSP00000262039:F684C;ENSP00000381845:F621C	.	F	+	2	0	PIK3C3	37874651	1.000000	0.71417	0.992000	0.48379	0.962000	0.63368	7.421000	0.80204	2.186000	0.69663	0.460000	0.39030	TTT		0.358	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		100	463	0	0	0	1	0	100	463					G	39620653	T	G	39620653	3	3	79	1	0	0	0	0	1	0	0	0	11954	1841	64	4	2125	4	PIK3C3	18	39620653	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4767653	39620653	38456595	18056	28373											
PIK3C3	5289	broad.mit.edu	37	chr18	39623705	39623705	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttttcagaactttttTagaaaatatgcaccaagtga	6	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39623705T>A	ENST00000262039.4	+	20	2198	c.2112T>A	c.(2110-2112)ttT>ttA	p.F704L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L|PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	704	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)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAACTTTTTTAGAAAATATG	0.338										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2110-2112)ttT>ttA		phosphatidylinositol 3-kinase, catalytic subunit type 3							107	104	105					18																	39623705		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39623705T>A	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.2112T>A	18.37:g.39623705T>A	ENSP00000262039:p.Phe704Leu	TSP Lung(28;0.18)				PIK3C3_ENST00000587402.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.F189L|PIK3C3_ENST00000589056.1_Missense_Mutation_p.F51L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.F641L	p.F704L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			20	2198	+			704			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2112T>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	T	9.354	1.066183	0.20067	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.83075	-1.68;-1.68	5.46	-1.11	0.09840	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.177758	0.50627	D	0.000117	T	0.61060	0.2317	N	0.15975	0.35	0.80722	D	1	B;P;B	0.39576	0.019;0.679;0.016	B;B;B	0.36666	0.037;0.23;0.011	T	0.48927	-0.8991	9	.	.	.	.	5.5724	0.17204	0.1396:0.4296:0.0:0.4308	.	641;641;704	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	L	704;641	ENSP00000262039:F704L;ENSP00000381845:F641L	.	F	+	3	2	PIK3C3	37877703	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.018000	0.30002	-0.112000	0.11979	0.528000	0.53228	TTT		0.338	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		78	281	0	0	0	1	0	78	281					A	39623705	T	A	39623705	3	1	79	1	0	0	0	0	1	0	0	0	11954	1751	61	5	2190	5	PIK3C3	18	39623705	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3052	39623705	38453543	18057	28374											
SYT4	6860	broad.mit.edu	37	chr18	40853651	40853651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgatatcatctcttgaaAacctgtcaaaactcaaaatt	3	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853651A>C	ENST00000255224.3	-	2	1111	c.743T>G	c.(742-744)tTt>tGt	p.F248C	SYT4_ENST00000590752.1_Missense_Mutation_p.F230C|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	248	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						ATCTCTTGAAAACCTGTCAAA	0.368																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(742-744)tTt>tGt		synaptotagmin IV							69	70	70					18																	40853651		2202	4300	6502	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853651A>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.743T>G	18.37:g.40853651A>C	ENSP00000255224:p.Phe248Cys					SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.F230C	p.F248C	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	1111	-			248			C2 1.|Phospholipid binding (Probable).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.743T>G	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884436	0.72410	.	.	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.09817	2.94	5.72	5.72	0.89469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.54118	-0.8341	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	230;248	B4DEU3;Q9H2B2	.;SYT4_HUMAN	C	248;53	ENSP00000255224:F248C	ENSP00000255224:F248C	F	-	2	0	SYT4	39107649	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.311000	0.77944	0.533000	0.62120	TTT		0.368	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		69	281	0	0	0	1	0	69	281					C	40853651	A	C	40853651	3	2	79	1	0	0	0	0	1	0	0	0	15528	14	1	4	546	4	SYT4	18	40853651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1229946	40853651	37223597	18058	28375											
SYT4	6860	broad.mit.edu	37	chr18	40853833	40853833	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atatatgggtcagaggtcatCgactgctcatccatggctgg	12	9	3	1	rs138240289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853833C>T	ENST00000255224.3	-	2	929	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SYT4_ENST00000590752.1_Silent_p.S169S|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	187	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						CAGAGGTCATCGACTGCTCAT	0.443																																					NSCLC(85;81 1419 2855 22820 35912)	ENST00000255224.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(559-561)tcG>tcA		synaptotagmin IV		C		0,4406		0,0,2203	72	71	72		561	-11.7	0	18	dbSNP_134	72	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	SYT4	NM_020783.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		187/426	40853833	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853833C>T	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.561G>A	18.37:g.40853833C>T						SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.S169S	p.S187S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN			2	929	-			187			C2 1.|Phospholipid binding (Probable).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.561G>A	CCDS11922.1																																																																																				0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		72	256	0	0	0	1	0	72	256					T	40853833	C	T	40853833	2	4	79	1	0	0	0	0	0	0	0	1	15528	871	31	1		1	SYT4	18	40853833	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	40853833	37223415	18059	28376											
SETBP1	26040	broad.mit.edu	37	chr18	42531860	42531860	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctccctaaaggaaatcaCgctgtcccctgtgagcgagt	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42531860C>T	ENST00000282030.5	+	4	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	852						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)		AAGGAAATCACGCTGTCCCCT	0.562									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(2554-2556)aCg>aTg		SET binding protein 1							87	60	69					18																	42531860		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42531860C>T	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.2555C>T	18.37:g.42531860C>T	ENSP00000282030:p.Thr852Met						p.T852M	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	2851	+			852					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2555C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634191	0.67130	.	.	ENSG00000152217	ENST00000282030	D	0.91124	-2.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	852	Q9Y6X0	SETBP_HUMAN	M	852	ENSP00000282030:T852M	ENSP00000282030:T852M	T	+	2	0	SETBP1	40785858	1.000000	0.71417	0.738000	0.30950	0.992000	0.81027	6.065000	0.71176	2.941000	0.99782	0.655000	0.94253	ACG		0.562	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		33	205	0	0	0	1	0	33	205					T	42531860	C	T	42531860	3	4	79	1	0	0	0	0	1	0	0	0	14179	536	19	1	2758	1	SETBP1	18	42531860	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1678027	42531860	35545388	18060	28377											
SETBP1	26040	broad.mit.edu	37	chr18	42643106	42643106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccatccagtgcgaagtgCggaagatgtgcaactacacc	11	11	0	1	rs145996171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42643106C>T	ENST00000282030.5	+	6	4530	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						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)		GTGCGAAGTGCGGAAGATGTG	0.532									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(4234-4236)Cgg>Tgg		SET binding protein 1							57	54	55					18																	42643106		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643106C>T	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.4234C>T	18.37:g.42643106C>T	ENSP00000282030:p.Arg1412Trp						p.R1412W	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4530	+			1412					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.4234C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153410	0.78114	.	.	ENSG00000152217	ENST00000282030	D	0.83673	-1.75	5.27	4.38	0.52667	.	0.000000	0.64402	D	0.000001	D	0.86468	0.5940	L	0.32530	0.975	0.39997	D	0.975114	D	0.89917	1.0	D	0.91635	0.999	D	0.88512	0.3090	10	0.87932	D	0	.	15.0866	0.72158	0.1431:0.8569:0.0:0.0	.	1412	Q9Y6X0	SETBP_HUMAN	W	1412	ENSP00000282030:R1412W	ENSP00000282030:R1412W	R	+	1	2	SETBP1	40897104	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.483000	0.53194	1.305000	0.44909	0.563000	0.77884	CGG		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		43	244	0	0	0	1	0	43	244					T	42643106	C	T	42643106	3	4	79	1	0	0	0	0	1	0	0	0	14179	759	27	1	4445	1	SETBP1	18	42643106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111246	42643106	35434142	18061	28378											
SLC14A2	8170	broad.mit.edu	37	chr18	43224100	43224100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactacctgacagtgaaaagCggtgaagaagagaaggcccc	12	9	0	5	rs201995847		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43224100C>T	ENST00000255226.6	+	10	2142	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	RP11-116O18.1_ENST00000590535.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.S442S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	442					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGAAAAGCGGTGAAGAAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19184	0.001		0.0	False		,,,				2504	0.0					ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1324-1326)agC>agT		solute carrier family 14 (urea transporter), member 2							134	131	132					18																	43224100		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43224100C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1326C>T	18.37:g.43224100C>T						SLC14A2_ENST00000586448.1_Silent_p.S442S	p.S442S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			10	2142	+			442					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.1326C>T	CCDS11924.1																																																																																				0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			99	530	0	0	0	1	0	99	530					T	43224100	C	T	43224100	2	4	79	1	0	0	0	0	0	0	0	1	14447	767	27	1		1	SLC14A2	18	43224100	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	580994	43224100	34853148	18062	28379											
SLC14A2	8170	broad.mit.edu	37	chr18	43262376	43262376	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgccatctacaagctcccGctcagcaaagtcacctaccc	5	20	3	0	rs143610580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43262376G>T	ENST00000255226.6	+	20	3471	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.P885P|SLC14A2_ENST00000589658.1_Silent_p.P362P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	885					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.P885P(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCTCAGCAAAG	0.542																																						ENST00000255226.6																			1	Substitution - coding silent(1)	p.P885P(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2653-2655)ccG>ccT		solute carrier family 14 (urea transporter), member 2							250	240	244					18																	43262376		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43262376G>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2655G>T	18.37:g.43262376G>T						RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Silent_p.P885P|SLC14A2_ENST00000589658.1_Silent_p.P362P	p.P885P	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			20	3471	+			885					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.2655G>T	CCDS11924.1																																																																																				0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			184	800	1	0	2.26964e-86	1	2.91009e-86	184	800					T	43262376	G	T	43262376	2	4	79	1	0	0	0	0	0	0	0	1	14447	1074	38	3		3	SLC14A2	18	43262376	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38276	43262376	34814872	18063	28380											
KIAA1632	57724	broad.mit.edu	37	chr18	43438734	43438734	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgggtccccatcctgaattCtgattgagagggcctaagaa	11	9	1	4	rs542786306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43438734C>A	ENST00000282041.5	-	41	7057	c.7023G>T	c.(7021-7023)caG>caT	p.Q2341H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2341					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.Q2341H(1)		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						ATCCTGAATTCTGATTGAGAG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20562	0.0		0.0	False		,,,				2504	0.0					ENST00000282041.5																			1	Substitution - Missense(1)	p.Q2341H(1)	large_intestine(1)	NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7021-7023)caG>caT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							54	51	52					18																	43438734		1856	4109	5965	SO:0001583	missense	57724				autophagy			g.chr18:43438734C>A	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.7023G>T	18.37:g.43438734C>A	ENSP00000282041:p.Gln2341His					EPG5_ENST00000585906.1_5'UTR	p.Q2341H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			41	7057	-			2341					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.7023G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682618	0.29872	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.10573	2.86	5.92	-2.62	0.06152	.	.	.	.	.	T	0.08626	0.0214	L	0.43152	1.355	0.22081	N	0.999372	B	0.24920	0.114	B	0.21917	0.037	T	0.34502	-0.9826	9	0.49607	T	0.09	-9.0147	6.6056	0.22724	0.212:0.4535:0.0:0.3344	.	2341	Q9HCE0	EPG5_HUMAN	H	2341;269;1216	ENSP00000282041:Q2341H	ENSP00000282041:Q2341H	Q	-	3	2	EPG5	41692732	0.940000	0.31905	0.113000	0.21522	0.745000	0.42441	0.071000	0.14594	-0.302000	0.08869	-0.367000	0.07326	CAG		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		46	186	1	0	2.47872e-24	1	2.8326e-24	46	186					A	43438734	C	A	43438734	3	1	79	1	0	0	0	0	1	0	0	0	8279	912	32	3	732	3	KIAA1632	18	43438734	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176358	43438734	34638514	18064	28381											
KIAA1632	57724	broad.mit.edu	37	chr18	43450702	43450702	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcatcacctggcaacaGcttatctagaatgtgaaaag	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43450702G>A	ENST00000282041.5	-	36	6089	c.6055C>T	c.(6055-6057)Ctg>Ttg	p.L2019L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2019					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						CCTGGCAACAGCTTATCTAGA	0.373																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(6055-6057)Ctg>Ttg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							68	66	67					18																	43450702		1890	4105	5995	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43450702G>A	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.6055C>T	18.37:g.43450702G>A						EPG5_ENST00000585906.1_5'UTR	p.L2019L	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			36	6089	-			2019					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.6055C>T	CCDS11926.2																																																																																				0.373	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		39	176	0	0	0	1	0	39	176					A	43450702	G	A	43450702	2	1	79	1	0	0	0	0	0	0	0	1	8279	962	34	2		2	KIAA1632	18	43450702	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11968	43450702	34626546	18065	28382											
KIAA1632	57724	broad.mit.edu	37	chr18	43484027	43484027	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgtccacagaccaacaGtctcctgaaactcatgatag	7	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43484027G>T	ENST00000282041.5	-	25	4419	c.4385C>A	c.(4384-4386)aCt>aAt	p.T1462N	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1462					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						CAGACCAACAGTCTCCTGAAA	0.498																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(4384-4386)aCt>aAt		ectopic P-granules autophagy protein 5 homolog (C. elegans)							141	140	141					18																	43484027		2006	4177	6183	SO:0001583	missense	57724				autophagy			g.chr18:43484027G>T	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.4385C>A	18.37:g.43484027G>T	ENSP00000282041:p.Thr1462Asn					EPG5_ENST00000585906.1_5'UTR	p.T1462N	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			25	4419	-			1462					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.4385C>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371606	0.42003	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09911	2.93	6.17	5.3	0.74995	.	.	.	.	.	T	0.11067	0.0270	L	0.29908	0.895	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.19484	-1.0304	9	0.62326	D	0.03	-1.2992	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	1462	Q9HCE0	EPG5_HUMAN	N	1462;337	ENSP00000282041:T1462N	ENSP00000282041:T1462N	T	-	2	0	EPG5	41738025	0.924000	0.31332	0.014000	0.15608	0.896000	0.52359	3.313000	0.51935	1.621000	0.50320	0.655000	0.94253	ACT		0.498	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		16	400	1	0	1.52009e-12	1	1.63397e-12	16	400					T	43484027	G	T	43484027	3	4	79	1	0	0	0	0	1	0	0	0	8279	1029	36	3	3434	3	KIAA1632	18	43484027	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33325	43484027	34593221	18066	28383											
KIAA1632	57724	broad.mit.edu	37	chr18	43508880	43508880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaactctatccagaaggacGgaaattatctcagggtgaac	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43508880G>A	ENST00000282041.5	-	13	2542	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	836					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						CCAGAAGGACGGAAATTATCT	0.398																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(2506-2508)tcC>tcT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							110	103	105					18																	43508880		1857	4099	5956	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43508880G>A	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.2508C>T	18.37:g.43508880G>A							p.S836S	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			13	2542	-			836					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.2508C>T	CCDS11926.2																																																																																				0.398	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		74	359	0	0	0	1	0	74	359					A	43508880	G	A	43508880	2	1	79	1	0	0	0	0	0	0	0	1	8279	1103	39	1		1	KIAA1632	18	43508880	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24853	43508880	34568368	18067	28384											
KIAA1632	57724	broad.mit.edu	37	chr18	43529485	43529485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccatttactaacaccagCggggcatcgaagaatatggt	10	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43529485C>T	ENST00000282041.5	-	5	1496	c.1462G>A	c.(1462-1464)Gct>Act	p.A488T		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	488					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						CTAACACCAGCGGGGCATCGA	0.433																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(1462-1464)Gct>Act		ectopic P-granules autophagy protein 5 homolog (C. elegans)							85	82	83					18																	43529485		1861	4097	5958	SO:0001583	missense	57724				autophagy			g.chr18:43529485C>T	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.1462G>A	18.37:g.43529485C>T	ENSP00000282041:p.Ala488Thr						p.A488T	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			5	1496	-			488					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.1462G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	34	5.405655	0.96051	.	.	ENSG00000152223	ENST00000282041	T	0.80909	-1.43	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.88507	0.6455	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89111	0.3496	10	0.72032	D	0.01	-11.7532	19.1922	0.93671	0.0:1.0:0.0:0.0	.	488;488	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	T	488	ENSP00000282041:A488T	ENSP00000282041:A488T	A	-	1	0	EPG5	41783483	1.000000	0.71417	0.945000	0.38365	0.892000	0.51952	5.575000	0.67430	2.607000	0.88179	0.650000	0.86243	GCT		0.433	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		43	154	0	0	0	1	0	43	154					T	43529485	C	T	43529485	3	4	79	1	0	0	0	0	1	0	0	0	8279	768	27	1	6437	1	KIAA1632	18	43529485	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20605	43529485	34547763	18068	28385											
KIAA1632	57724	broad.mit.edu	37	chr18	43535278	43535278	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acttcactggactcttccctCtgaggagtttcatacttctt	6	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43535278C>A	ENST00000282041.5	-	2	124	c.90G>T	c.(88-90)caG>caT	p.Q30H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	30					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						ACTCTTCCCTCTGAGGAGTTT	0.378																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(88-90)caG>caT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							60	54	56					18																	43535278		1822	4086	5908	SO:0001583	missense	57724				autophagy			g.chr18:43535278C>A	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.90G>T	18.37:g.43535278C>A	ENSP00000282041:p.Gln30His						p.Q30H	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			2	124	-			30					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.90G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172568	0.21704	.	.	ENSG00000152223	ENST00000282041	T	0.11930	2.73	5.38	3.61	0.41365	.	1.442800	0.03916	N	0.282665	T	0.11623	0.0283	N	0.08118	0	0.09310	N	1	P;B	0.36315	0.547;0.32	B;B	0.40228	0.323;0.244	T	0.42050	-0.9474	10	0.66056	D	0.02	-0.4744	10.1199	0.42614	0.0:0.8473:0.0:0.1527	.	30;30	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	H	30	ENSP00000282041:Q30H	ENSP00000282041:Q30H	Q	-	3	2	EPG5	41789276	0.701000	0.27806	0.152000	0.22495	0.337000	0.28794	1.165000	0.31822	0.841000	0.35020	0.563000	0.77884	CAG		0.378	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	214	1	0	7.03913e-09	1	7.37812e-09	9	214					A	43535278	C	A	43535278	3	1	79	1	0	0	0	0	1	0	0	0	8279	912	32	3	7821	3	KIAA1632	18	43535278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5793	43535278	34541970	18069	28386											
ATP5A1	498	broad.mit.edu	37	chr18	43669626	43669626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtctgcattggttcccGcactgaaattcgaggaatga	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669626G>A	ENST00000398752.6	-	5	677	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	ATP5A1_ENST00000593152.2_Missense_Mutation_p.R136W|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W	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	186					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						ATTGGTTCCCGCACTGAAATT	0.478																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(406-408)Cgg>Tgg		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							65	62	63					18																	43669626		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43669626G>A	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.556C>T	18.37:g.43669626G>A	ENSP00000381736:p.Arg186Trp					ATP5A1_ENST00000398752.6_Missense_Mutation_p.R186W|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R186W|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R164W	p.R136W	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			5	945	-			186					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.406C>T	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848400	0.71603	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	D;D	0.81821	-1.54;-1.54	5.16	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.87827	2.91	0.54753	D	0.999984	D	0.60160	0.987	P	0.48952	0.596	D	0.86904	0.2056	10	0.87932	D	0	-3.2527	13.0158	0.58757	0.0:0.0:0.575:0.425	.	186	P25705	ATPA_HUMAN	W	186;186;136	ENSP00000282050:R186W;ENSP00000381736:R186W	ENSP00000282050:R186W	R	-	1	2	ATP5A1	41923624	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.322000	0.43814	0.546000	0.28920	0.563000	0.77884	CGG		0.478	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		8	365	0	0	0	1	0	8	365					A	43669626	G	A	43669626	3	1	79	1	0	0	0	0	1	0	0	0	1148	1086	38	1	1137	1	ATP5A1	18	43669626	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134348	43669626	34407622	18070	28387											
ATP5A1	498	broad.mit.edu	37	chr18	43669671	43669671	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctttcagaccaactcGcctacgcgtcttggaaccaa	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669671G>A	ENST00000398752.6	-	5	632	c.511C>T	c.(511-513)Cga>Tga	p.R171*	ATP5A1_ENST00000593152.2_Nonsense_Mutation_p.R121*|ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*|ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*	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	171					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						AGACCAACTCGCCTACGCGTC	0.438																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(361-363)Cga>Tga		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							54	54	54					18																	43669671		2203	4300	6503	SO:0001587	stop_gained	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43669671G>A	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.511C>T	18.37:g.43669671G>A	ENSP00000381736:p.Arg171*					ATP5A1_ENST00000398752.6_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000282050.2_Nonsense_Mutation_p.R171*|ATP5A1_ENST00000590665.1_Nonsense_Mutation_p.R149*	p.R121*	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			5	900	-			171					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Nonsense_Mutation	SNP	ENST00000398752.6	37	c.361C>T	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	G	41	8.968810	0.99019	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	.	.	.	5.16	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2256	10.5373	0.45011	0.0:0.0:0.5583:0.4417	.	.	.	.	X	171;171;121	.	ENSP00000282050:R171X	R	-	1	2	ATP5A1	41923669	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.120000	0.57897	2.411000	0.81874	0.563000	0.77884	CGA		0.438	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		66	313	0	0	0	1	0	66	313					A	43669671	G	A	43669671	4	1	79	1	0	0	0	0	0	1	0	0	1148	1095	38	1	1182	1	ATP5A1	18	43669671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	43669671	34407577	18071	28388											
C18orf25	147339	broad.mit.edu	37	chr18	43842923	43842923	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaggtggtgtgattcagAgtgtttcttcatggaagcat	13	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43842923A>T	ENST00000282059.6	+	5	1428	c.1054A>T	c.(1054-1056)Agt>Tgt	p.S352C	C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	352										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTGATTCAGAGTGTTTCTTC	0.483																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(1054-1056)Agt>Tgt		chromosome 18 open reading frame 25							175	155	162					18																	43842923		2026	4195	6221	SO:0001583	missense	147339							g.chr18:43842923A>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1054A>T	18.37:g.43842923A>T	ENSP00000282059:p.Ser352Cys					C18orf25_ENST00000321319.6_Missense_Mutation_p.S291C	p.S352C	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			5	1428	+			352					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	ENST00000282059.6	37	c.1054A>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986319	0.74589	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.78630	-0.2129	9	0.87932	D	0	-7.6025	14.9214	0.70841	1.0:0.0:0.0:0.0	.	291;352	Q96B23-2;Q96B23	.;CR025_HUMAN	C	352;291	.	ENSP00000282059:S352C	S	+	1	0	C18orf25	42096921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.584000	0.82572	1.920000	0.55613	0.460000	0.39030	AGT		0.483	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		65	349	0	0	0	1	0	65	349					T	43842923	A	T	43842923	3	4	79	1	0	0	0	0	1	0	0	0	1906	304	11	5	1068	5	C18orf25	18	43842923	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	173252	43842923	34234325	18072	28389											
RNF165	494470	broad.mit.edu	37	chr18	44035936	44035936	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactctctctgcttctcataGcgaagaccccaggatggcaa	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44035936G>T	ENST00000269439.7	+	7	867		c.e7-1		RNF165_ENST00000543885.1_Splice_Site	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165								zinc ion binding (GO:0008270)			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCTTCTCATAGCGAAGACCCC	0.522																																						ENST00000269439.7																			0				NS(1)|large_intestine(4)|lung(6)	11						c.e7-1		ring finger protein 165							82	68	73					18																	44035936		2203	4299	6502	SO:0001630	splice_region_variant	494470						zinc ion binding	g.chr18:44035936G>T	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.817-1G>T	18.37:g.44035936G>T						RNF165_ENST00000543885.1_Splice_Site		NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	7	867	+								B3KVD1	Splice_Site	SNP	ENST00000269439.7	37		CCDS32823.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462751	0.84425	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.459	0.87615	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF165	42289934	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	9.353000	0.97080	2.218000	0.71995	0.305000	0.20034	.		0.522	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470	Intron	4	90	1	0	0.00024832	1	0.000252053	4	90					T	44035936	G	T	44035936	5	4	79	1	0	0	0	0	0	0	1	0	13506	985	34	3	842	3	RNF165	18	44035936	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193013	44035936	34041312	18073	28390											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260357	44260357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccagcacgtacttgacgCggatggacacgtcggtgttg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44260357C>T	ENST00000315087.7	-	7	1439	c.779G>A	c.(778-780)cGc>cAc	p.R260H	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	260					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTACTTGACGCGGATGGACAC	0.612																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(778-780)cGc>cAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							105	60	75					18																	44260357		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260357C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.779G>A	18.37:g.44260357C>T	ENSP00000321343:p.Arg260His					ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R296H|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R229H	p.R260H	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			7	1439	-			260					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.779G>A	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571418	0.96553	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.32272	1.46;1.46;1.46	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.998	T	0.63892	-0.6534	10	0.22109	T	0.4	-8.1148	19.4172	0.94706	0.0:1.0:0.0:0.0	.	229;296;260	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	H	260;296;229	ENSP00000321343:R260H;ENSP00000445492:R296H;ENSP00000443683:R229H	ENSP00000321343:R260H	R	-	2	0	ST8SIA5	42514355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.094000	0.71431	2.584000	0.87258	0.561000	0.74099	CGC		0.612	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		20	144	0	0	0	1	0	20	144					T	44260357	C	T	44260357	3	4	79	1	0	0	0	0	1	0	0	0	15287	768	27	1	355	1	ST8SIA5	18	44260357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224421	44260357	33816891	18074	28391											
ST8SIA5	29906	broad.mit.edu	37	chr18	44336397	44336397	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaaggtcaccaaggcaaaGgcgcagatgaagatgaagag	14	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44336397G>A	ENST00000315087.7	-	1	735	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ST8SIA5_ENST00000538168.1_Silent_p.A25A|ST8SIA5_ENST00000536490.1_Silent_p.A25A|RP11-742D12.2_ENST00000602329.1_RNA|RP11-742D12.2_ENST00000602333.1_RNA	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	25					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAAGGCAAAGGCGCAGATGA	0.612																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(73-75)gcC>gcT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							110	103	105					18																	44336397		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44336397G>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"Sialyltransferases"	17827	protein-coding gene	gene with protein product	"ST8Sia V"	607162	"sialyltransferase 8E (alpha-2, 8-polysialytransferase)"	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.75C>T	18.37:g.44336397G>A						ST8SIA5_ENST00000538168.1_Silent_p.A25A|ST8SIA5_ENST00000536490.1_Silent_p.A25A	p.A25A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			1	735	-			25					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.75C>T	CCDS11930.1																																																																																				0.612	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		64	349	0	0	0	1	0	64	349					A	44336397	G	A	44336397	2	1	79	1	0	0	0	0	0	0	0	1	15287	987	35	2		2	ST8SIA5	18	44336397	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76040	44336397	33740851	18075	28392											
PIAS2	9063	broad.mit.edu	37	chr18	44470643	44470643	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaattgggggagatggctgCtgcatctcaaatgtgggctt	16	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470643C>A	ENST00000585916.1	-	2	398	c.399G>T	c.(397-399)caG>caT	p.Q133H	PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	133					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						GAGATGGCTGCTGCATCTCAA	0.473																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(397-399)caG>caT		protein inhibitor of activated STAT, 2							110	88	95					18																	44470643		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470643C>A	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.399G>T	18.37:g.44470643C>A	ENSP00000465676:p.Gln133His					PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.Q133H	p.Q133H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			2	398	-			133					O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.399G>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154880	0.38021	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	6.06	6.06	0.98353	.	0.050470	0.85682	D	0.000000	T	0.27798	0.0684	L	0.28274	0.84	0.80722	D	1	B;B;B;B	0.26512	0.012;0.007;0.151;0.057	B;B;B;B	0.25884	0.012;0.005;0.064;0.029	T	0.02477	-1.1153	10	0.42905	T	0.14	-6.6939	20.6244	0.99512	0.0:1.0:0.0:0.0	.	137;133;133;133	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	H	133;133;129;133	ENSP00000317163:Q133H	ENSP00000262161:Q133H	Q	-	3	2	PIAS2	42724641	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	3.066000	0.50002	2.879000	0.98667	0.650000	0.86243	CAG		0.473	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		41	170	1	0	1.96642e-18	1	2.182e-18	41	170					A	44470643	C	A	44470643	3	1	79	1	0	0	0	0	1	0	0	0	11918	796	28	3	1593	3	PIAS2	18	44470643	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134246	44470643	33606605	18076	28393											
PIAS2	9063	broad.mit.edu	37	chr18	44470901	44470901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccgcagggctgcagccGctcttcaataaatgcagcgc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470901G>A	ENST00000585916.1	-	2	140	c.141C>T	c.(139-141)agC>agT	p.S47S	PIAS2_ENST00000324794.7_Silent_p.S47S|PIAS2_ENST00000545673.1_Intron	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	47					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						GGCTGCAGCCGCTCTTCAATA	0.443																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(139-141)agC>agT		protein inhibitor of activated STAT, 2							69	71	71					18																	44470901		2203	4300	6503	SO:0001819	synonymous_variant	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44470901G>A	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.141C>T	18.37:g.44470901G>A						PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Silent_p.S47S	p.S47S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			2	140	-			47					O75927|Q96BT5|Q96KE3	Silent	SNP	ENST00000585916.1	37	c.141C>T	CCDS32824.1																																																																																				0.443	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		64	483	0	0	0	1	0	64	483					A	44470901	G	A	44470901	2	1	79	1	0	0	0	0	0	0	0	1	11918	1078	38	1		1	PIAS2	18	44470901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	258	44470901	33606347	18077	28394											
TCEB3C	728929	broad.mit.edu	37	chr18	44549187	44549187	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggtacggctgatcgggcGtccacccttccagaacgggt	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549187G>A	ENST00000451265.1	-	1	1347	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	371	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T371M(1)		central_nervous_system(1)|lung(1)|prostate(1)	3						CTGATCGGGCGTCCACCCTTC	0.587																																						ENST00000451265.1																			1	Substitution - Missense(1)	p.T371M(1)	lung(1)	central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1111-1113)aCg>aTg		transcription elongation factor B polypeptide 3C-like							260	221	234					18																	44549187		1740	3470	5210	SO:0001583	missense	728929							g.chr18:44549187G>A			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1112C>T	18.37:g.44549187G>A	ENSP00000409932:p.Thr371Met					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.T371M	NM_001100817.1	NP_001094287.1					1	1347	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1112C>T	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991850	0.35131	.	.	ENSG00000234298	ENST00000451265	T	0.34859	1.34	1.5	0.603	0.17541	.	0.000000	0.52532	D	0.000078	T	0.47021	0.1423	M	0.63843	1.955	0.25300	N	0.989283	D	0.71674	0.998	P	0.61874	0.895	T	0.30357	-0.9981	10	0.56958	D	0.05	-24.5205	7.7008	0.28621	0.0:0.2651:0.7349:0.0	.	371	Q3SY89	EA3L1_HUMAN	M	371	ENSP00000409932:T371M	ENSP00000409932:T371M	T	-	2	0	TCEB3CL	42803185	0.992000	0.36948	0.000000	0.03702	0.000000	0.00434	2.511000	0.45476	0.221000	0.20879	-0.232000	0.12228	ACG		0.587	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		97	2638	0	0	0	1	0	97	2638					A	44549187	G	A	44549187	3	1	79	1	0	0	0	0	1	0	0	0	15735	1145	40	1	532	1	TCEB3C	18	44549187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78286	44549187	33528061	18078	28395											
TCEB3C	728929	broad.mit.edu	37	chr18	44549200	44549200	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgggcgtccacccttccaGaacgggttcaagaaccgagt	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549200G>T	ENST00000451265.1	-	1	1334	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	367	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						CACCCTTCCAGAACGGGTTCA	0.612																																						ENST00000451265.1																			0				central_nervous_system(1)|lung(1)|prostate(1)	3						c.(1099-1101)Ctg>Atg		transcription elongation factor B polypeptide 3C-like							260	221	234					18																	44549200		1740	3470	5210	SO:0001583	missense	728929							g.chr18:44549200G>T			18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1099C>A	18.37:g.44549200G>T	ENSP00000409932:p.Leu367Met					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.L367M	NM_001100817.1	NP_001094287.1					1	1334	-								Q3MI93	Missense_Mutation	SNP	ENST00000451265.1	37	c.1099C>A	CCDS42433.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376169	0.24857	.	.	ENSG00000234298	ENST00000451265	T	0.72282	-0.64	1.32	-1.58	0.08479	.	0.178952	0.26380	N	0.024708	T	0.79862	0.4519	M	0.87269	2.87	0.21445	N	0.99969	D	0.63880	0.993	D	0.65874	0.939	T	0.70230	-0.4929	10	0.72032	D	0.01	-11.7882	5.3947	0.16263	0.5484:0.0:0.4516:0.0	.	367	Q3SY89	EA3L1_HUMAN	M	367	ENSP00000409932:L367M	ENSP00000409932:L367M	L	-	1	2	TCEB3CL	42803198	0.186000	0.23225	0.000000	0.03702	0.000000	0.00434	0.117000	0.15583	-0.475000	0.06852	-0.378000	0.06908	CTG		0.612	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451071.1	XM_001132059		80	2653	1	0	5.45024e-15	1	5.94044e-15	80	2653					T	44549200	G	T	44549200	3	4	79	1	0	0	0	0	1	0	0	0	15735	933	33	3	545	3	TCEB3C	18	44549200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	44549200	33528048	18079	28396											
TCEB3B	51224	broad.mit.edu	37	chr18	44559411	44559411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttgtagtctcgaattGccttggccatcagcggggcc	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44559411G>A	ENST00000332567.4	-	1	2577	c.2225C>T	c.(2224-2226)gCa>gTa	p.A742V	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|TCEB3C_ENST00000330682.2_5'Flank|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	742					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						GTCTCGAATTGCCTTGGCCAT	0.567																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2224-2226)gCa>gTa		transcription elongation factor B polypeptide 3B (elongin A2)							68	75	73					18																	44559411		2203	4296	6499	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559411G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2225C>T	18.37:g.44559411G>A	ENSP00000331302:p.Ala742Val					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A742V	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2577	-			742					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.2225C>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078773	0.36662	.	.	ENSG00000206181	ENST00000332567	T	0.07567	3.18	1.62	-0.654	0.11443	.	0.693792	0.11843	N	0.524097	T	0.11153	0.0272	L	0.44542	1.39	0.09310	N	1	D	0.58268	0.982	P	0.54664	0.758	T	0.19386	-1.0307	10	0.41790	T	0.15	-1.6528	3.5071	0.07695	0.0:0.2844:0.4274:0.2882	.	742	Q8IYF1	ELOA2_HUMAN	V	742	ENSP00000331302:A742V	ENSP00000331302:A742V	A	-	2	0	TCEB3B	42813409	0.186000	0.23225	0.001000	0.08648	0.002000	0.02628	0.417000	0.21214	-0.196000	0.10366	-0.222000	0.12452	GCA		0.567	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		141	730	0	0	0	1	0	141	730					A	44559411	G	A	44559411	3	1	79	1	0	0	0	0	1	0	0	0	15734	1319	46	2	40	2	TCEB3B	18	44559411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10211	44559411	33517837	18080	28397											
TCEB3B	51224	broad.mit.edu	37	chr18	44560824	44560824	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggctgcctgtccctgGcacttgcccaggagggcatc	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44560824G>T	ENST00000332567.4	-	1	1164	c.812C>A	c.(811-813)gCc>gAc	p.A271D	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	271					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						CCTGTCCCTGGCACTTGCCCA	0.607																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(811-813)gCc>gAc		transcription elongation factor B polypeptide 3B (elongin A2)							77	83	81					18																	44560824		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560824G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.812C>A	18.37:g.44560824G>T	ENSP00000331302:p.Ala271Asp					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A271D	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1164	-			271					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.812C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727164	0.30593	.	.	ENSG00000206181	ENST00000332567	T	0.08896	3.04	1.95	-0.817	0.10836	.	1.007460	0.08007	U	0.989744	T	0.07908	0.0198	N	0.24115	0.695	0.09310	N	1	P	0.47604	0.898	P	0.46685	0.524	T	0.41627	-0.9498	10	0.36615	T	0.2	.	8.5403	0.33388	0.0:0.6645:0.3355:0.0	.	271	Q8IYF1	ELOA2_HUMAN	D	271	ENSP00000331302:A271D	ENSP00000331302:A271D	A	-	2	0	TCEB3B	42814822	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.334000	0.19787	-0.232000	0.09811	0.462000	0.41574	GCC		0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		28	821	1	0	1.7881e-09	1	1.88299e-09	28	821					T	44560824	G	T	44560824	3	4	79	1	0	0	0	0	1	0	0	0	15734	1203	42	3	1453	3	TCEB3B	18	44560824	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1413	44560824	33516424	18081	28398											
TCEB3B	51224	broad.mit.edu	37	chr18	44561072	44561072	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccgggttgcttcccgggCgcagcgggctcagggccctc	15	16	1	0	rs529402856	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44561072C>T	ENST00000332567.4	-	1	916	c.564G>A	c.(562-564)gcG>gcA	p.A188A	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	188					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						GCTTCCCGGGCGCAGCGGGCT	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		13156	0.002		0.0	False		,,,				2504	0.0					ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(562-564)gcG>gcA		transcription elongation factor B polypeptide 3B (elongin A2)							24	28	27					18																	44561072		2188	4282	6470	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561072C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.564G>A	18.37:g.44561072C>T						KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	p.A188A	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	916	-			188					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.564G>A	CCDS11932.1																																																																																				0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		62	280	0	0	0	1	0	62	280					T	44561072	C	T	44561072	2	4	79	1	0	0	0	0	0	0	0	1	15734	755	27	1		1	TCEB3B	18	44561072	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	44561072	33516176	18082	28399											
HDHD2	84064	broad.mit.edu	37	chr18	44662797	44662797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaacagcttttaatgcaCggcatgctgccatccttcat	6	13	1	0	rs374468528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44662797C>T	ENST00000300605.6	-	2	166	c.14G>A	c.(13-15)cGt>cAt	p.R5H	HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	5						extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAATGCACGGCATGCTGC	0.408																																						ENST00000300605.6																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(13-15)cGt>cAt		haloacid dehalogenase-like hydrolase domain containing 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	90	96		14	4.9	1	18		96	0,8600		0,0,4300	no	missense	HDHD2	NM_032124.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	5/260	44662797	1,13005	2203	4300	6503	SO:0001583	missense	84064						hydrolase activity	g.chr18:44662797C>T	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.14G>A	18.37:g.44662797C>T	ENSP00000300605:p.Arg5His					HDHD2_ENST00000587841.1_Intron|IER3IP1_ENST00000588705.1_3'UTR	p.R5H	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN			2	166	-			5					A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	c.14G>A	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345040	0.61073	2.27E-4	0.0	ENSG00000167220	ENST00000300605	T	0.32988	1.43	5.76	4.88	0.63580	HAD-like domain (1);	0.652062	0.15970	N	0.235809	T	0.27384	0.0672	L	0.41824	1.3	0.53688	D	0.999979	B	0.29037	0.231	B	0.21151	0.033	T	0.08638	-1.0712	10	0.72032	D	0.01	-0.0751	15.0729	0.72053	0.0:0.931:0.0:0.069	.	5	Q9H0R4	HDHD2_HUMAN	H	5	ENSP00000300605:R5H	ENSP00000300605:R5H	R	-	2	0	HDHD2	42916795	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.102000	0.57776	2.720000	0.93068	0.655000	0.94253	CGT		0.408	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		36	206	0	0	0	1	0	36	206					T	44662797	C	T	44662797	3	4	79	1	0	0	0	0	1	0	0	0	7053	536	19	1	789	1	HDHD2	18	44662797	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101725	44662797	33414451	18083	28400											
KIAA0427	9811	broad.mit.edu	37	chr18	46145986	46145986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggaggcagggagcagccGctcccaggagatcgaggagc	17	12	0	1	rs199996585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46145986G>A	ENST00000256413.3	+	2	345	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CTIF_ENST00000382998.4_Missense_Mutation_p.R17H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	17	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGAGCAGCCGCTCCCAGGAG	0.637													G|||	2	0.000399361	0.0	0.0	5008	,	,		17495	0.001		0.001	False		,,,				2504	0.0					ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(49-51)cGc>cAc		CBP80/20-dependent translation initiation factor							26	23	24					18																	46145986		2201	4297	6498	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46145986G>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.50G>A	18.37:g.46145986G>A	ENSP00000256413:p.Arg17His					CTIF_ENST00000382998.4_Missense_Mutation_p.R17H	p.R17H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			2	345	+			17			Interaction with NCBP1/CBP80.		B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.50G>A	CCDS11935.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	31	5.067570	0.93898	.	.	ENSG00000134030	ENST00000256413;ENST00000382998	T;T	0.57595	0.39;0.4	5.1	5.1	0.69264	.	0.338109	0.21582	N	0.072233	T	0.66616	0.2807	L	0.39898	1.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.69624	-0.5095	10	0.87932	D	0	.	18.1461	0.89655	0.0:0.0:1.0:0.0	.	17;17	O43310-2;O43310	.;CTIF_HUMAN	H	17	ENSP00000256413:R17H;ENSP00000372459:R17H	ENSP00000256413:R17H	R	+	2	0	CTIF	44399984	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.420000	0.97426	2.365000	0.80145	0.442000	0.29010	CGC		0.637	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		10	52	0	0	0	1	0	10	52					A	46145986	G	A	46145986	3	1	79	1	0	0	0	0	1	0	0	0	8206	1087	38	1	52	1	KIAA0427	18	46145986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1483189	46145986	31931262	18084	28401											
SMAD7	4092	broad.mit.edu	37	chr18	46448083	46448083	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagccgattttgctccGcaccttctgcaccagctgac	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448083G>A	ENST00000262158.2	-	4	1226	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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 ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|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)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATTTTGCTCCGCACCTTCTGC	0.557																																						ENST00000262158.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(940-942)Cgg>Tgg		SMAD family member 7							78	59	65					18																	46448083		2203	4300	6503	SO:0001583	missense	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46448083G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.940C>T	18.37:g.46448083G>A	ENSP00000262158:p.Arg314Trp					SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Missense_Mutation_p.R99W|SMAD7_ENST00000589634.1_Missense_Mutation_p.R313W	p.R314W	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1226	-	Colorectal(1;0.0518)		314			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Missense_Mutation	SNP	ENST00000262158.2	37	c.940C>T	CCDS11936.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796564	0.70567	.	.	ENSG00000101665	ENST00000545051;ENST00000262158	D	0.99698	-6.44	5.66	4.78	0.61160	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97312	0.9938	10	0.87932	D	0	.	16.1773	0.81862	0.0:0.0:0.866:0.134	.	314;126	O15105;B3KYA8	SMAD7_HUMAN;.	W	99;314	ENSP00000262158:R314W	ENSP00000262158:R314W	R	-	1	2	SMAD7	44702081	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.740000	0.74832	1.359000	0.45940	0.591000	0.81541	CGG		0.557	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		48	255	0	0	0	1	0	48	255					A	46448083	G	A	46448083	3	1	79	1	0	0	0	0	1	0	0	0	14813	1086	38	1	344	1	SMAD7	18	46448083	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302097	46448083	31629165	18085	28402											
SMAD7	4092	broad.mit.edu	37	chr18	46448237	46448237	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcccagtatgccaccacGcaccagtgtgaccgatcccc	7	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448237G>A	ENST00000262158.2	-	4	1072	c.786C>T	c.(784-786)tgC>tgT	p.C262C	SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.C261C|SMAD7_ENST00000591805.1_Silent_p.C47C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	262	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				adherens junction assembly (GO:0034333)|artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|cellular protein complex localization (GO:0034629)|cellular response to transforming growth factor beta stimulus (GO:0071560)|gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|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 ubiquitin-protein transferase activity (GO:0051444)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of cardiac muscle contraction (GO:0055117)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|response to laminar fluid shear stress (GO:0034616)|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)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activin binding (GO:0048185)|beta-catenin binding (GO:0008013)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.C262C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATGCCACCACGCACCAGTGTG	0.537																																						ENST00000262158.2																			1	Substitution - coding silent(1)	p.C262C(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10						c.(784-786)tgC>tgT		SMAD family member 7							50	55	54					18																	46448237		2199	4298	6497	SO:0001819	synonymous_variant	4092				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:46448237G>A	AF010193	CCDS11936.1, CCDS54186.1, CCDS59317.1	18q21.1	2006-11-06	2006-11-06	2004-05-26	ENSG00000101665	ENSG00000101665		"SMADs"	6773	protein-coding gene	gene with protein product		602932	"MAD, mothers against decapentaplegic homolog 7 (Drosophila)", "SMAD, mothers against DPP homolog 7 (Drosophila)"	MADH8, MADH7		9256479, 9730599	Standard	NM_005904		Approved		uc002ldg.3	O15105	OTTHUMG00000132655	ENST00000262158.2:c.786C>T	18.37:g.46448237G>A						SMAD7_ENST00000585986.1_5'UTR|SMAD7_ENST00000591805.1_Silent_p.C47C|SMAD7_ENST00000589634.1_Silent_p.C261C	p.C262C	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN			4	1072	-	Colorectal(1;0.0518)		262			MH2.		B7Z773|K7EQ10|O14740|Q6DK23	Silent	SNP	ENST00000262158.2	37	c.786C>T	CCDS11936.1																																																																																				0.537	SMAD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255906.1	NM_005904		43	240	0	0	0	1	0	43	240					A	46448237	G	A	46448237	2	1	79	1	0	0	0	0	0	0	0	1	14813	1079	38	1		1	SMAD7	18	46448237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154	46448237	31629011	18086	28403											
DYM	54808	broad.mit.edu	37	chr18	46808509	46808509	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aactattaaagttgatctggAaggcatgtggaattgatgag	12	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46808509A>T	ENST00000269445.6	-	10	1440	c.983T>A	c.(982-984)tTc>tAc	p.F328Y	DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	328					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTTGATCTGGAAGGCATGTGG	0.363																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(982-984)tTc>tAc		dymeclin							101	95	97					18																	46808509		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46808509A>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.983T>A	18.37:g.46808509A>T	ENSP00000269445:p.Phe328Tyr					DYM_ENST00000442713.2_Missense_Mutation_p.F138Y	p.F328Y	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			10	1440	-			328					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.983T>A	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	A	33	5.220756	0.95139	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.82984	-1.67;-1.67	5.53	5.53	0.82687	.	0.087292	0.85682	D	0.000000	D	0.91140	0.7210	M	0.82056	2.57	0.80722	D	1	D;D;D	0.67145	0.99;0.991;0.996	P;D;P	0.74023	0.844;0.982;0.842	D	0.92346	0.5885	10	0.87932	D	0	-21.8803	15.9991	0.80275	1.0:0.0:0.0:0.0	.	138;150;328	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	Y	138;328	ENSP00000395942:F138Y;ENSP00000269445:F328Y	ENSP00000269445:F328Y	F	-	2	0	DYM	45062507	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.171000	0.94802	2.240000	0.73641	0.472000	0.43445	TTC		0.363	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		45	234	0	0	0	1	0	45	234					T	46808509	A	T	46808509	3	4	79	1	0	0	0	0	1	0	0	0	4856	246	9	5	1058	5	DYM	18	46808509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360272	46808509	31268739	18087	28404											
DYM	54808	broad.mit.edu	37	chr18	46812850	46812850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtctgtaggggtttggCgcatctgaggcatctgtcag	15	8	4	1	rs142473333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46812850C>T	ENST00000269445.6	-	9	1357	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DYM_ENST00000442713.2_Silent_p.A110A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGGTTTGGCGCATCTGAGG	0.483																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(898-900)gcG>gcA		dymeclin							105	117	113					18																	46812850		2203	4300	6503	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46812850C>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.900G>A	18.37:g.46812850C>T						DYM_ENST00000442713.2_Silent_p.A110A	p.A300A	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			9	1357	-			300					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.900G>A	CCDS11937.1																																																																																				0.483	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		129	525	0	0	0	1	0	129	525					T	46812850	C	T	46812850	2	4	79	1	0	0	0	0	0	0	0	1	4856	755	27	1		1	DYM	18	46812850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4341	46812850	31264398	18088	28405											
LIPG	9388	broad.mit.edu	37	chr18	47091750	47091750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtgaggtttaacctccGcacctccaaggacccagagc	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47091750G>A	ENST00000261292.4	+	2	439	c.161G>A	c.(160-162)cGc>cAc	p.R54H	LIPG_ENST00000427224.2_Missense_Mutation_p.R54H|LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000580036.1_Missense_Mutation_p.R54H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	54					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTTAACCTCCGCACCTCCAAG	0.517																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(160-162)cGc>cAc		lipase, endothelial							118	96	103					18																	47091750		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47091750G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.161G>A	18.37:g.47091750G>A	ENSP00000261292:p.Arg54His					LIPG_ENST00000577628.1_Missense_Mutation_p.R90H|LIPG_ENST00000580036.1_Missense_Mutation_p.R54H|LIPG_ENST00000427224.2_Missense_Mutation_p.R54H	p.R54H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			2	439	+			54					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.161G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013161	0.35511	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.90504	-2.68;-2.68	5.34	1.49	0.22878	Lipase, N-terminal (1);	0.251674	0.44688	D	0.000424	T	0.78381	0.4274	N	0.16066	0.365	0.30685	N	0.751944	B;B;B	0.24768	0.024;0.111;0.099	B;B;B	0.25291	0.027;0.059;0.024	T	0.68123	-0.5492	10	0.37606	T	0.19	-24.4886	4.4407	0.11573	0.2138:0.0:0.5156:0.2705	.	54;54;54	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	H	54	ENSP00000261292:R54H;ENSP00000387978:R54H	ENSP00000261292:R54H	R	+	2	0	LIPG	45345748	0.998000	0.40836	0.898000	0.35279	0.772000	0.43724	3.609000	0.54117	-0.010000	0.14271	0.561000	0.74099	CGC		0.517	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		52	223	0	0	0	1	0	52	223					A	47091750	G	A	47091750	3	1	79	1	0	0	0	0	1	0	0	0	8856	1087	38	1	167	1	LIPG	18	47091750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278900	47091750	30985498	18089	28406											
LIPG	9388	broad.mit.edu	37	chr18	47101920	47101920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgacttccagccaggCtgtggactcaacgatgtctt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47101920C>T	ENST00000261292.4	+	5	1031	c.753C>T	c.(751-753)ggC>ggT	p.G251G	LIPG_ENST00000427224.2_Intron|LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000580036.1_Silent_p.G251G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	251					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCAGCCAGGCTGTGGACTCA	0.483																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(751-753)ggC>ggT		lipase, endothelial							85	69	75					18																	47101920		2203	4300	6503	SO:0001819	synonymous_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47101920C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.753C>T	18.37:g.47101920C>T						LIPG_ENST00000577628.1_Silent_p.G287G|LIPG_ENST00000580036.1_Silent_p.G251G|LIPG_ENST00000427224.2_Intron	p.G251G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			5	1031	+			251					B0LPG6|Q6P9C8|Q6UW82	Silent	SNP	ENST00000261292.4	37	c.753C>T	CCDS11938.1																																																																																				0.483	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		41	178	0	0	0	1	0	41	178					T	47101920	C	T	47101920	2	4	79	1	0	0	0	0	0	0	0	1	8856	784	28	2		2	LIPG	18	47101920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10170	47101920	30975328	18090	28407											
LIPG	9388	broad.mit.edu	37	chr18	47110052	47110052	+	Missense_Mutation	SNP	G	G	T													tcttggtacaacctgtggaaGgagtttcgcagctacctgtc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110052G>T	ENST00000261292.4	+	8	1562	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	428	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1282-1284)aaG>aaT		lipase, endothelial							78	69	72					18																	47110052		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110052G>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1284G>T	18.37:g.47110052G>T	ENSP00000261292:p.Lys428Asn					LIPG_ENST00000427224.2_Missense_Mutation_p.K354N	p.K428N	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1562	+			428			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1284G>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	8.238	0.806250	0.16467	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86694	-2.16;-1.68	5.6	-1.66	0.08265	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.531819	0.23813	N	0.044313	T	0.61515	0.2353	N	0.05351	-0.065	0.09310	N	0.999991	B;B	0.17465	0.013;0.022	B;B	0.20955	0.032;0.02	T	0.54576	-0.8273	10	0.02654	T	1	-8.2979	1.0417	0.01560	0.2629:0.1916:0.3436:0.2018	.	354;428	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	N	428;354	ENSP00000261292:K428N;ENSP00000387978:K354N	ENSP00000261292:K428N	K	+	3	2	LIPG	45364050	0.273000	0.24181	0.508000	0.27688	0.968000	0.65278	0.040000	0.13905	-0.211000	0.10124	0.561000	0.74099	AAG		0.587	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		54	175	1	0	9.57592e-29	1	1.11608e-28	54	175					T	47110052	G	T	47110052	3	4	79	1	0	0	0	0	1	0	0	0	8856	991	35	3	1314	3	LIPG	18	47110052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8132	47110052	30967196	18091	28408	181	2									
LIPG	9388	broad.mit.edu	37	chr18	47110060	47110060	+	Missense_Mutation	SNP	G	G	A													caacctgtggaaggagtttcGcagctacctgtctcaacccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110060G>A	ENST00000261292.4	+	8	1570	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AAGGAGTTTCGCAGCTACCTG	0.587																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1291-1293)cGc>cAc		lipase, endothelial							72	64	67					18																	47110060		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110060G>A	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1292G>A	18.37:g.47110060G>A	ENSP00000261292:p.Arg431His					LIPG_ENST00000427224.2_Missense_Mutation_p.R357H	p.R431H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1570	+			431			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1292G>A	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683239	0.68157	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86627	-2.15;-1.64	5.38	4.51	0.55191	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.214441	0.47852	D	0.000208	D	0.90525	0.7031	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.912	D	0.89655	0.3872	10	0.51188	T	0.08	-20.9923	8.7691	0.34722	0.2273:0.0:0.7727:0.0	.	357;431	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	H	431;357	ENSP00000261292:R431H;ENSP00000387978:R357H	ENSP00000261292:R431H	R	+	2	0	LIPG	45364058	0.005000	0.15991	1.000000	0.80357	0.965000	0.64279	1.242000	0.32755	1.274000	0.44362	0.561000	0.74099	CGC		0.587	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		37	169	0	0	0	1	0	37	169					A	47110060	G	A	47110060	3	1	79	1	0	0	0	0	1	0	0	0	8856	1087	38	1	1322	1	LIPG	18	47110060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	47110060	30967188	18092	28409	181	2									
MYO5B	4645	broad.mit.edu	37	chr18	47363197	47363197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggttccatggtctgaactgCtccactctggtgaaggtttc	11	10	2	2	rs373990722		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363197C>T	ENST00000285039.7	-	38	5496	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1733	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCTGAACTGCTCCACTCTGG	0.507																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5197-5199)Gca>Aca		myosin VB		C	THR/ALA	0,3860		0,0,1930	70	66	67		5197	5	0.9	18		67	1,8255		0,1,4127	no	missense	MYO5B	NM_001080467.2	58	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	1733/1849	47363197	1,12115	1930	4128	6058	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363197C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5197G>A	18.37:g.47363197C>T	ENSP00000285039:p.Ala1733Thr					MYO5B_ENST00000324581.6_Missense_Mutation_p.A848T|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.A56T|MYO5B_ENST00000592688.1_Missense_Mutation_p.A303T	p.A1733T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	38	5496	-			1733			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5197G>A	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337726	0.95758	0.0	1.21E-4	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.87729	-2.29;2.27	4.98	4.98	0.66077	Dilute (1);Dil domain (1);	0.000000	0.64402	D	0.000002	D	0.93249	0.7849	M	0.73962	2.25	0.58432	D	0.999999	D;D	0.89917	0.988;1.0	P;D	0.97110	0.893;1.0	D	0.93336	0.6705	10	0.59425	D	0.04	.	18.4226	0.90597	0.0:1.0:0.0:0.0	.	1733;848	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	T	1733;848	ENSP00000285039:A1733T;ENSP00000315531:A848T	ENSP00000285039:A1733T	A	-	1	0	MYO5B	45617195	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	5.913000	0.69957	2.738000	0.93877	0.655000	0.94253	GCA		0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			31	230	0	0	0	1	0	31	230					T	47363197	C	T	47363197	3	4	79	1	0	0	0	0	1	0	0	0	10120	797	28	2	361	2	MYO5B	18	47363197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	253137	47363197	30714051	18093	28410											
MYO5B	4645	broad.mit.edu	37	chr18	47363955	47363955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttgttaagagtcactgcGttgatcatgtagaagagctg	13	5	2	4	rs199837997	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363955G>A	ENST00000285039.7	-	37	5369	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N805N|MYO5B_ENST00000592688.1_Silent_p.N260N|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1690	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCACTGCGTTGATCATGT	0.512													G|||	4	0.000798722	0.0	0.0058	5008	,	,		23021	0.0		0.0	False		,,,				2504	0.0					ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5068-5070)aaC>aaT		myosin VB		G		1,4077		0,1,2038	68	65	66		5070	-3.4	0.4	18		66	0,8374		0,0,4187	no	coding-synonymous	MYO5B	NM_001080467.2		0,1,6225	AA,AG,GG		0.0,0.0245,0.0080		1690/1849	47363955	1,12451	2039	4187	6226	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363955G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5070C>T	18.37:g.47363955G>A						MYO5B_ENST00000324581.6_Silent_p.N805N|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Silent_p.N13N|MYO5B_ENST00000592688.1_Silent_p.N260N	p.N1690N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5369	-			1690			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.5070C>T	CCDS42436.1																																																																																				0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			53	195	0	0	0	1	0	53	195					A	47363955	G	A	47363955	2	1	79	1	0	0	0	0	0	0	0	1	10120	1136	40	1		1	MYO5B	18	47363955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	758	47363955	30713293	18094	28411											
MYO5B	4645	broad.mit.edu	37	chr18	47373547	47373547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggatgaggagggcctcGtcctctttgtggtactccag	13	11	1	1	rs576835999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47373547G>A	ENST00000285039.7	-	33	4727	c.4428C>T	c.(4426-4428)gaC>gaT	p.D1476D	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.D591D|MYO5B_ENST00000592688.1_Silent_p.D46D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1476					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)		GGAGGGCCTCGTCCTCTTTGT	0.612																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4426-4428)gaC>gaT		myosin VB							83	92	89					18																	47373547		2122	4219	6341	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47373547G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4428C>T	18.37:g.47373547G>A						MYO5B_ENST00000324581.6_Silent_p.D591D|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Silent_p.D46D	p.D1476D	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	33	4727	-			1476					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4428C>T	CCDS42436.1																																																																																				0.612	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			33	346	0	0	0	1	0	33	346					A	47373547	G	A	47373547	2	1	79	1	0	0	0	0	0	0	0	1	10120	1136	40	1		1	MYO5B	18	47373547	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9592	47373547	30703701	18095	28412											
MYO5B	4645	broad.mit.edu	37	chr18	47390710	47390710	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctcagctcattcaggTcattcttcagctttttgttc	5	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47390710T>C	ENST00000285039.7	-	28	3943	c.3644A>G	c.(3643-3645)gAc>gGc	p.D1215G	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1215					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)		CTCATTCAGGTCATTCTTCAG	0.572																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3643-3645)gAc>gGc		myosin VB							137	148	144					18																	47390710		2013	4176	6189	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47390710T>C	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.3644A>G	18.37:g.47390710T>C	ENSP00000285039:p.Asp1215Gly					MYO5B_ENST00000324581.6_Missense_Mutation_p.D356G|MYO5B_ENST00000587895.1_5'UTR	p.D1215G	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	28	3943	-			1215					B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.3644A>G	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636939	0.87760	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.22743	1.94;1.94	5.5	5.5	0.81552	.	0.225560	0.44688	D	0.000437	T	0.33294	0.0858	M	0.71036	2.16	0.80722	D	1	B;P	0.35456	0.091;0.502	B;B	0.42188	0.21;0.379	T	0.10314	-1.0635	10	0.56958	D	0.05	.	15.2853	0.73822	0.0:0.0:0.0:1.0	.	1215;356	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	G	1215;356	ENSP00000285039:D1215G;ENSP00000315531:D356G	ENSP00000285039:D1215G	D	-	2	0	MYO5B	45644708	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.020000	0.88740	2.093000	0.63338	0.459000	0.35465	GAC		0.572	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			223	1081	0	0	0	1	0	223	1081					C	47390710	T	C	47390710	3	2	79	1	0	0	0	0	1	0	0	0	10120	1667	58	4	1954	4	MYO5B	18	47390710	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17163	47390710	30686538	18096	28413											
MYO5B	4645	broad.mit.edu	37	chr18	47398552	47398552	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttaccttcagactattgtaGgccagatctgcattcgggtc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47398552G>T	ENST00000285039.7	-	27	3887	c.3588C>A	c.(3586-3588)gcC>gcA	p.A1196A	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Silent_p.A337A|Y_RNA_ENST00000364798.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1196					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)		GACTATTGTAGGCCAGATCTG	0.507																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(3586-3588)gcC>gcA		myosin VB							368	354	358					18																	47398552		1946	4133	6079	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47398552G>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3588C>A	18.37:g.47398552G>T						MYO5B_ENST00000324581.6_Silent_p.A337A|MYO5B_ENST00000587895.1_5'UTR	p.A1196A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	27	3887	-			1196					B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.3588C>A	CCDS42436.1																																																																																				0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			67	2023	1	0	1.39649e-27	1	1.61833e-27	67	2023					T	47398552	G	T	47398552	2	4	79	1	0	0	0	0	0	0	0	1	10120	987	35	3		3	MYO5B	18	47398552	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7842	47398552	30678696	18097	28414											
MYO5B	4645	broad.mit.edu	37	chr18	47429162	47429162	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgtgccatccagccccgCacgtgcttctggatggtggt	13	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47429162C>T	ENST00000285039.7	-	21	2912	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	MYO5B_ENST00000324581.6_Silent_p.V12V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	871	Arg-rich.|IQ 5. {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)		TCCAGCCCCGCACGTGCTTCT	0.607																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(2611-2613)gtG>gtA		myosin VB							25	28	27					18																	47429162		2053	4201	6254	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47429162C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.2613G>A	18.37:g.47429162C>T						MYO5B_ENST00000324581.6_Silent_p.V12V	p.V871V	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	21	2912	-			871			Arg-rich.|IQ 5.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.2613G>A	CCDS42436.1																																																																																				0.607	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			42	138	0	0	0	1	0	42	138					T	47429162	C	T	47429162	2	4	79	1	0	0	0	0	0	0	0	1	10120	697	25	2		2	MYO5B	18	47429162	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30610	47429162	30648086	18098	28415											
MYO5B	4645	broad.mit.edu	37	chr18	47500787	47500787	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagggccttgttgatgtGctccacaatccagccgaaca	11	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47500787G>A	ENST00000285039.7	-	10	1554	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	419	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTTGATGTGCTCCACAATC	0.582																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1255-1257)Cac>Tac		myosin VB							139	150	147					18																	47500787		2176	4264	6440	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47500787G>A	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1255C>T	18.37:g.47500787G>A	ENSP00000285039:p.His419Tyr						p.H419Y	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	10	1554	-			419			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1255C>T	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708535	0.89018	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87256	-2.23	5.5	5.5	0.81552	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89736	0.6801	L	0.48218	1.51	0.80722	D	1	B;B	0.25667	0.131;0.001	P;B	0.46419	0.516;0.006	D	0.84433	0.0578	10	0.21014	T	0.42	.	19.3767	0.94512	0.0:0.0:1.0:0.0	.	418;419	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	Y	419;418	ENSP00000285039:H419Y	ENSP00000285039:H419Y	H	-	1	0	MYO5B	45754785	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.751000	0.98889	2.735000	0.93741	0.655000	0.94253	CAC		0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			19	391	0	0	0	1	0	19	391					A	47500787	G	A	47500787	3	1	79	1	0	0	0	0	1	0	0	0	10120	1319	46	2	4415	2	MYO5B	18	47500787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71625	47500787	30576461	18099	28416											
CCDC11	220136	broad.mit.edu	37	chr18	47787442	47787442	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatttcattacctgaattgCtggtctagcttttcagccac	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47787442C>T	ENST00000398545.4	-	3	582	c.465G>A	c.(463-465)caG>caA	p.Q155Q		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)		ACCTGAATTGCTGGTCTAGCT	0.313																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(463-465)caG>caA		coiled-coil domain containing 11							162	157	158					18																	47787442		1817	4077	5894	SO:0001819	synonymous_variant	220136							g.chr18:47787442C>T																												ENST00000398545.4:c.465G>A	18.37:g.47787442C>T							p.Q155Q	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	3	582	-			155						Silent	SNP	ENST00000398545.4	37	c.465G>A	CCDS11940.2																																																																																				0.313	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			127	571	0	0	0	1	0	127	571					T	47787442	C	T	47787442	2	4	79	1	0	0	0	0	0	0	0	1	2753	796	28	2		2	CCDC11	18	47787442	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286655	47787442	30289806	18100	28417											
MBD1	4152	broad.mit.edu	37	chr18	47806310	47806310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacttgcgaaagacttcgCggcgcttccagccagggccc	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47806310C>T	ENST00000591416.1	-	2	484	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	18	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				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						AAAGACTTCGCGGCGCTTCCA	0.632																																						ENST00000591416.1																			0				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						c.(52-54)cGc>cAc		methyl-CpG binding domain protein 1							39	38	38					18																	47806310		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47806310C>T	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.53G>A	18.37:g.47806310C>T	ENSP00000467017:p.Arg18His					MBD1_ENST00000591535.1_Missense_Mutation_p.R18H|MBD1_ENST00000353909.3_Missense_Mutation_p.R18H|MBD1_ENST00000590208.1_Missense_Mutation_p.R18H|MBD1_ENST00000349085.2_Missense_Mutation_p.R18H|MBD1_ENST00000588937.1_Missense_Mutation_p.R18H|MBD1_ENST00000339998.6_Missense_Mutation_p.R18H|MBD1_ENST00000398493.1_Missense_Mutation_p.R18H|MBD1_ENST00000347968.3_Missense_Mutation_p.R18H|MBD1_ENST00000269468.5_Missense_Mutation_p.R18H|MBD1_ENST00000587605.1_Missense_Mutation_p.R18H|MBD1_ENST00000585672.1_Missense_Mutation_p.R18H|MBD1_ENST00000585595.1_Missense_Mutation_p.R18H|MBD1_ENST00000457839.2_Missense_Mutation_p.R18H|MBD1_ENST00000436910.1_Missense_Mutation_p.R18H|MBD1_ENST00000424334.2_Missense_Mutation_p.R44H|MBD1_ENST00000269471.5_Missense_Mutation_p.R18H|MBD1_ENST00000398488.1_Missense_Mutation_p.R18H|MBD1_ENST00000398495.2_Missense_Mutation_p.R18H|MBD1_ENST00000382948.5_Missense_Mutation_p.R18H	p.R18H			Q9UIS9	MBD1_HUMAN			2	484	-			18			MBD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.53G>A	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422881	0.83559	.	.	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	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78	4.35	4.35	0.52113	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.48286	D	0.000200	D	0.99168	0.9712	M	0.65320	2	0.39293	D	0.964775	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;0.995;0.999;1.0;0.999;0.997;0.997;0.996;1.0;0.997;1.0	D	0.99880	1.1112	10	0.87932	D	0	-9.431	14.7516	0.69530	0.0:1.0:0.0:0.0	.	18;44;18;18;18;18;18;18;18;18;18	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	H	18;18;18;18;18;18;18;44;18;18;18;18;18	ENSP00000372407:R18H;ENSP00000269469:R18H;ENSP00000342531:R18H;ENSP00000269468:R18H;ENSP00000285102:R18H;ENSP00000409561:R18H;ENSP00000269471:R18H;ENSP00000408846:R44H;ENSP00000339546:R18H;ENSP00000381508:R18H;ENSP00000405268:R18H;ENSP00000381506:R18H;ENSP00000381502:R18H	ENSP00000269468:R18H	R	-	2	0	MBD1	46060308	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.952000	0.56691	2.143000	0.66587	0.467000	0.42956	CGC		0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		44	237	0	0	0	1	0	44	237					T	47806310	C	T	47806310	3	4	79	1	0	0	0	0	1	0	0	0	9383	768	27	1	2018	1	MBD1	18	47806310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18868	47806310	30270938	18101	28418											
CXXC1	30827	broad.mit.edu	37	chr18	47809894	47809894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcacttacccttcaatgCgtgtggggtacatggaccca	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47809894C>T	ENST00000285106.6	-	12	2279	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000349085.2_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|MBD1_ENST00000585595.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	522					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						CCCTTCAATGCGTGTGGGGTA	0.592																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1564-1566)cGc>cAc		CXXC finger protein 1							87	60	69					18																	47809894		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809894C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1565G>A	18.37:g.47809894C>T	ENSP00000285106:p.Arg522His					CXXC1_ENST00000589940.1_Missense_Mutation_p.R522H|CXXC1_ENST00000412036.2_Missense_Mutation_p.R526H	p.R522H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			12	2279	-			522					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.1565G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543446	0.86022	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.26067	1.76;1.76	4.49	4.49	0.54785	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.956;0.974;0.98	T	0.50242	-0.8851	10	0.72032	D	0.01	-13.1822	15.0406	0.71788	0.0:1.0:0.0:0.0	.	526;522;389	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	H	522;526	ENSP00000285106:R522H;ENSP00000390475:R526H	ENSP00000285106:R522H	R	-	2	0	CXXC1	46063892	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.054000	0.76649	2.212000	0.71576	0.467000	0.42956	CGC		0.592	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		26	119	0	0	0	1	0	26	119					T	47809894	C	T	47809894	3	4	79	1	0	0	0	0	1	0	0	0	4108	768	27	1	421	1	CXXC1	18	47809894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3584	47809894	30267354	18102	28419											
CXXC1	30827	broad.mit.edu	37	chr18	47811382	47811382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctcaccaggccatggTcatcaaaggcccctgcacag	10	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47811382T>A	ENST00000285106.6	-	7	1616	c.902A>T	c.(901-903)gAc>gTc	p.D301V	CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	301	Asp/Glu-rich (acidic).				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						CAGGCCATGGTCATCAAAGGC	0.557																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(901-903)gAc>gTc		CXXC finger protein 1							75	80	79					18																	47811382		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47811382T>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.902A>T	18.37:g.47811382T>A	ENSP00000285106:p.Asp301Val					CXXC1_ENST00000589940.1_Missense_Mutation_p.D301V|CXXC1_ENST00000412036.2_Missense_Mutation_p.D301V	p.D301V	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			7	1616	-			301			Asp/Glu-rich (acidic).		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.902A>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900308	0.52227	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.27256	1.68;1.68	4.28	4.28	0.50868	.	0.249082	0.37715	N	0.001980	T	0.39462	0.1079	L	0.46157	1.445	0.80722	D	1	P;D;P;P	0.71674	0.808;0.998;0.808;0.808	B;D;B;B	0.63703	0.283;0.917;0.283;0.17	T	0.18650	-1.0330	10	0.56958	D	0.05	-8.5836	11.6576	0.51328	0.0:0.0:0.0:1.0	.	301;301;301;168	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	V	301	ENSP00000285106:D301V;ENSP00000390475:D301V	ENSP00000285106:D301V	D	-	2	0	CXXC1	46065380	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.789000	0.62446	1.718000	0.51419	0.443000	0.29094	GAC		0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		78	290	0	0	0	1	0	78	290					A	47811382	T	A	47811382	3	1	79	1	0	0	0	0	1	0	0	0	4108	1667	58	5	1116	5	CXXC1	18	47811382	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1488	47811382	30265866	18103	28420											
SKA1	220134	broad.mit.edu	37	chr18	47911724	47911724	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcaatggtgttccttcGtaagtatttaagataaataa	8	4	1	1	rs370642365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47911724G>A	ENST00000285116.3	+	5	660		c.e5+1		SKA1_ENST00000417656.2_Intron|SKA1_ENST00000398452.2_Splice_Site|SKA1_ENST00000488454.1_Intron	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1						cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GTGTTCCTTCGTAAGTATTTA	0.294																																						ENST00000285116.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.e5+1		spindle and kinetochore associated complex subunit 1		G	,	0,4406		0,0,2203	90	94	92		,	3.9	1	18		92	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,splice-5	SKA1	NM_001039535.2,NM_145060.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,	47911724	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47911724G>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.449+1G>A	18.37:g.47911724G>A						SKA1_ENST00000417656.2_Intron|SKA1_ENST00000398452.2_Splice_Site|SKA1_ENST00000488454.1_Intron		NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			5	660	+								B2R9Y6|B4E0P4	Splice_Site	SNP	ENST00000285116.3	37		CCDS11946.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997508	0.54147	0.0	1.16E-4	ENSG00000154839	ENST00000285116;ENST00000398452	.	.	.	5.66	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5254	0.44945	0.1527:0.0:0.8473:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SKA1	46165722	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	5.776000	0.68924	0.869000	0.35703	0.655000	0.94253	.		0.294	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060	Intron	45	277	0	0	0	1	0	45	277					A	47911724	G	A	47911724	5	1	79	1	0	0	0	0	0	0	1	0	14402	1159	40	1	464	1	SKA1	18	47911724	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100342	47911724	30165524	18104	28421											
MAPK4	5596	broad.mit.edu	37	chr18	48255532	48255532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtacccttgcaggtacCctgtgagcctgtcgtcggac	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255532C>T	ENST00000400384.2	+	6	2108	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	MAPK4_ENST00000540640.1_Missense_Mutation_p.P147S|MAPK4_ENST00000592595.1_Silent_p.T232T	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	358					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)		TTGCAGGTACCCTGTGAGCCT	0.652																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(1072-1074)Cct>Tct		mitogen-activated protein kinase 4							53	60	58					18																	48255532		2152	4235	6387	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255532C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1072C>T	18.37:g.48255532C>T	ENSP00000383234:p.Pro358Ser					MAPK4_ENST00000592595.1_Silent_p.T232T|MAPK4_ENST00000540640.1_Missense_Mutation_p.P147S	p.P358S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2108	+		Colorectal(6;0.0297)	358					A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.1072C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495230	0.26774	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.70045	-0.45;1.35	5.66	5.66	0.87406	.	0.206132	0.33631	N	0.004703	T	0.55178	0.1904	L	0.29908	0.895	0.80722	D	1	B	0.20459	0.045	B	0.18263	0.021	T	0.51268	-0.8727	10	0.11182	T	0.66	-19.5053	18.5086	0.90907	0.0:1.0:0.0:0.0	.	358	P31152	MK04_HUMAN	S	358;147	ENSP00000383234:P358S;ENSP00000439231:P147S	ENSP00000383234:P358S	P	+	1	0	MAPK4	46509530	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	6.559000	0.73946	2.665000	0.90641	0.561000	0.74099	CCT		0.652	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		76	372	0	0	0	1	0	76	372					T	48255532	C	T	48255532	3	4	79	1	0	0	0	0	1	0	0	0	9321	623	22	2	1090	2	MAPK4	18	48255532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343808	48255532	29821716	18105	28422											
MAPK4	5596	broad.mit.edu	37	chr18	48255600	48255600	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccagcgaggtacagcgCgacccgcgcgcgggttcggc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255600C>T	ENST00000400384.2	+	6	2176	c.1140C>T	c.(1138-1140)cgC>cgT	p.R380R	MAPK4_ENST00000540640.1_Silent_p.R169R|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	380					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)		AGGTACAGCGCGACCCGCGCG	0.672																																						ENST00000400384.2																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(1138-1140)cgC>cgT		mitogen-activated protein kinase 4							31	35	34					18																	48255600		2031	4119	6150	SO:0001819	synonymous_variant	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255600C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1140C>T	18.37:g.48255600C>T						MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Silent_p.R169R	p.R380R	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2176	+		Colorectal(6;0.0297)	380					A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	c.1140C>T	CCDS42437.1																																																																																				0.672	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		33	337	0	0	0	1	0	33	337					T	48255600	C	T	48255600	2	4	79	1	0	0	0	0	0	0	0	1	9321	755	27	1		1	MAPK4	18	48255600	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68	48255600	29821648	18106	28423											
ME2	4200	broad.mit.edu	37	chr18	48446897	48446897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attcaggttcttgagaaagtAccgagaaaaatattgtactt	8	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48446897A>G	ENST00000321341.5	+	8	1078	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	269					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)		TTGAGAAAGTACCGAGAAAAA	0.333																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(805-807)tAc>tGc		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						65	64	64					18																	48446897		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48446897A>G	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.806A>G	18.37:g.48446897A>G	ENSP00000321070:p.Tyr269Cys					ME2_ENST00000382927.3_Missense_Mutation_p.Y269C	p.Y269C	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	8	1078	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	269					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.806A>G	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243374	0.79912	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.56941	0.43;0.43	5.75	5.75	0.90469	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89158	0.3528	10	0.87932	D	0	-16.0466	15.046	0.71827	1.0:0.0:0.0:0.0	.	269;269	Q9BWL6;P23368	.;MAOM_HUMAN	C	269	ENSP00000321070:Y269C;ENSP00000372384:Y269C	ENSP00000321070:Y269C	Y	+	2	0	ME2	46700895	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	9.315000	0.96313	2.202000	0.70862	0.528000	0.53228	TAC		0.333	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		52	158	0	0	0	1	0	52	158					G	48446897	A	G	48446897	3	3	79	1	0	0	0	0	1	0	0	0	9459	391	14	4	832	4	ME2	18	48446897	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	191297	48446897	29630351	18107	28424											
ME2	4200	broad.mit.edu	37	chr18	48447034	48447034	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtttttcttacagggaCagctgcagtagctctagcag	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447034C>T	ENST00000321341.5	+	9	1120	c.848C>T	c.(847-849)aCa>aTa	p.T283I	ME2_ENST00000382927.3_Missense_Mutation_p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	283					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)		CTTACAGGGACAGCTGCAGTA	0.348																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(847-849)aCa>aTa		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						52	55	54					18																	48447034		2203	4297	6500	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447034C>T	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.848C>T	18.37:g.48447034C>T	ENSP00000321070:p.Thr283Ile					ME2_ENST00000382927.3_Missense_Mutation_p.T283I	p.T283I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	9	1120	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	283					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.848C>T	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809554	0.70797	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.64085	-0.08;-0.08	5.73	5.73	0.89815	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89641	0.3862	10	0.87932	D	0	-26.8303	18.6849	0.91559	0.0:1.0:0.0:0.0	.	283;283	Q9BWL6;P23368	.;MAOM_HUMAN	I	283	ENSP00000321070:T283I;ENSP00000372384:T283I	ENSP00000321070:T283I	T	+	2	0	ME2	46701032	1.000000	0.71417	0.991000	0.47740	0.416000	0.31233	7.791000	0.85805	2.719000	0.93026	0.637000	0.83480	ACA		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		71	262	0	0	0	1	0	71	262					T	48447034	C	T	48447034	3	4	79	1	0	0	0	0	1	0	0	0	9459	478	17	2	878	2	ME2	18	48447034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	48447034	29630214	18108	28425											
SMAD4	4089	broad.mit.edu	37	chr18	48604665	48604665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattggtgttgatgaccttcGtcgcttatgcatactcagga	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48604665G>A	ENST00000342988.3	+	12	2025	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	496	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.R496H(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)		GATGACCTTCGTCGCTTATGC	0.468																																						ENST00000342988.3																			40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.R496H(2)|p.?(2)	pancreas(26)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|thyroid(1)|oesophagus(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						c.(1486-1488)cGt>cAt		SMAD family member 4							122	105	111					18																	48604665		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604665G>A	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.1487G>A	18.37:g.48604665G>A	ENSP00000341551:p.Arg496His					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.R496H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R400H	p.R496H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2025	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	496			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1487G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538817	0.85917	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98862	-5.19;-5.19	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.049689	0.85682	D	0.000000	D	0.99124	0.9698	M	0.81341	2.54	0.80722	D	1	D	0.67145	0.996	D	0.71184	0.972	D	0.99813	1.1042	10	0.72032	D	0.01	.	19.2202	0.93793	0.0:0.0:1.0:0.0	.	496	Q13485	SMAD4_HUMAN	H	496	ENSP00000341551:R496H;ENSP00000381452:R496H	ENSP00000341551:R496H	R	+	2	0	SMAD4	46858663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.586000	0.98226	2.843000	0.97960	0.655000	0.94253	CGT		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		92	296	0	0	0	1	0	92	296					A	48604665	G	A	48604665	3	1	79	1	0	0	0	0	1	0	0	0	14810	1145	40	1	1529	1	SMAD4	18	48604665	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	157631	48604665	29472583	18109	28426											
DCC	1630	broad.mit.edu	37	chr18	50278519	50278519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctcctcgactgctccGcggagtccgaccgaggagtt	12	14	0	0	rs558026226		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50278519G>A	ENST00000442544.2	+	2	803	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	DCC_ENST00000412726.1_5'Flank	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	63	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)			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)		CGACTGCTCCGCGGAGTCCGA	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		17326	0.0		0.0	False		,,,				2504	0.001					ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(187-189)Gcg>Acg		deleted in colorectal carcinoma							72	70	71					18																	50278519		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50278519G>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.187G>A	18.37:g.50278519G>A	ENSP00000389140:p.Ala63Thr						p.A63T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	2	803	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	63			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000442544.2	37	c.187G>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851659	0.71719	.	.	ENSG00000187323	ENST00000442544	T	0.15603	2.41	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.45760	-0.9239	10	0.72032	D	0.01	.	18.5252	0.90969	0.0:0.0:1.0:0.0	.	63	P43146	DCC_HUMAN	T	63	ENSP00000389140:A63T	ENSP00000389140:A63T	A	+	1	0	DCC	48532517	1.000000	0.71417	0.850000	0.33497	0.146000	0.21551	4.507000	0.60434	2.676000	0.91093	0.655000	0.94253	GCG		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		42	210	0	0	0	1	0	42	210					A	50278519	G	A	50278519	3	1	79	1	0	0	0	0	1	0	0	0	4293	1087	38	1	193	1	DCC	18	50278519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1673854	50278519	27798729	18110	28427											
DCC	1630	broad.mit.edu	37	chr18	50592518	50592518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcccagaccagtgcacagCtcattgtccctaagcctggt	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50592518C>A	ENST00000442544.2	+	7	1859	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	DCC_ENST00000581580.1_Missense_Mutation_p.L70I|DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	415	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGTGCACAGCTCATTGTCCC	0.428																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1243-1245)Ctc>Atc		deleted in colorectal carcinoma							147	131	137					18																	50592518		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50592518C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1243C>A	18.37:g.50592518C>A	ENSP00000389140:p.Leu415Ile					DCC_ENST00000581580.1_Missense_Mutation_p.L70I|DCC_ENST00000412726.1_Missense_Mutation_p.L263I|DCC_ENST00000580146.1_3'UTR	p.L415I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	7	1859	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	415			Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1243C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238434	0.39598	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	D;D	0.89746	-2.56;-2.56	5.01	4.12	0.48240	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000012	D	0.92835	0.7721	M	0.66378	2.025	0.44562	D	0.997522	P;P;P	0.46220	0.584;0.874;0.844	P;P;D	0.68621	0.744;0.833;0.959	D	0.92639	0.6123	10	0.59425	D	0.04	.	12.1051	0.53807	0.0:0.9141:0.0:0.0859	.	263;263;415	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	I	415;348;263	ENSP00000389140:L415I;ENSP00000397322:L263I	ENSP00000304146:L348I	L	+	1	0	DCC	48846516	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.402000	0.59722	2.497000	0.84241	0.650000	0.86243	CTC		0.428	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		91	311	1	0	1.68508e-47	1	2.07469e-47	91	311					A	50592518	C	A	50592518	3	1	79	1	0	0	0	0	1	0	0	0	4293	797	28	3	1269	3	DCC	18	50592518	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	313999	50592518	27484730	18111	28428											
MBD2	8932	broad.mit.edu	37	chr18	51686244	51686244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcttccaatttcttgCgtacttgctgtactcgctct	7	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686244C>T	ENST00000256429.3	-	6	1367	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	380					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)		CAATTTCTTGCGTACTTGCTG	0.403																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1138-1140)cGc>cAc		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						167	134	145					18																	51686244		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51686244C>T	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.1139G>A	18.37:g.51686244C>T	ENSP00000256429:p.Arg380His					MBD2_ENST00000579025.1_5'UTR	p.R380H	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	6	1367	-			380					O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.1139G>A	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483729	0.84854	.	.	ENSG00000134046	ENST00000256429	D	0.99567	-6.18	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.98021	1.0371	10	0.87932	D	0	-11.7965	18.7698	0.91887	0.0:1.0:0.0:0.0	.	380	Q9UBB5	MBD2_HUMAN	H	380	ENSP00000256429:R380H	ENSP00000256429:R380H	R	-	2	0	MBD2	49940242	1.000000	0.71417	0.188000	0.23233	0.464000	0.32679	7.456000	0.80751	2.724000	0.93272	0.561000	0.74099	CGC		0.403	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		53	343	0	0	0	1	0	53	343					T	51686244	C	T	51686244	3	4	79	1	0	0	0	0	1	0	0	0	9384	768	27	1	100	1	MBD2	18	51686244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1093726	51686244	26391004	18112	28429											
MBD2	8932	broad.mit.edu	37	chr18	51686260	51686260	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgtacttgctgtactcGctcttcctgtttccttttta	6	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686260G>A	ENST00000256429.3	-	6	1351	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	MBD2_ENST00000579025.1_5'UTR	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	375					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)		TGCTGTACTCGCTCTTCCTGT	0.398																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1123-1125)Cga>Tga		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						125	101	109					18																	51686260		2203	4300	6503	SO:0001587	stop_gained	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51686260G>A	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.1123C>T	18.37:g.51686260G>A	ENSP00000256429:p.Arg375*					MBD2_ENST00000579025.1_5'UTR	p.R375*	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	6	1351	-			375					O95242|Q9UIS8	Nonsense_Mutation	SNP	ENST00000256429.3	37	c.1123C>T	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	G	39	7.661500	0.98419	.	.	ENSG00000134046	ENST00000256429	.	.	.	5.77	5.77	0.91146	.	0.065090	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4375	13.7042	0.62627	0.0:0.0:0.8457:0.1543	.	.	.	.	X	375	.	ENSP00000256429:R375X	R	-	1	2	MBD2	49940258	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.862000	0.48388	2.724000	0.93272	0.561000	0.74099	CGA		0.398	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		39	261	0	0	0	1	0	39	261					A	51686260	G	A	51686260	4	1	79	1	0	0	0	0	0	1	0	0	9384	1095	38	1	116	1	MBD2	18	51686260	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16	51686260	26390988	18113	28430											
MBD2	8932	broad.mit.edu	37	chr18	51715256	51715256	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atccttacctgacgtggctgTtcattcattcgttgtgggtc	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51715256T>G	ENST00000256429.3	-	3	1056	c.828A>C	c.(826-828)gaA>gaC	p.E276D		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	276					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)		GACGTGGCTGTTCATTCATTC	0.333																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(826-828)gaA>gaC		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						238	222	227					18																	51715256		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51715256T>G	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.828A>C	18.37:g.51715256T>G	ENSP00000256429:p.Glu276Asp						p.E276D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	3	1056	-			276					O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.828A>C	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	T	9.447	1.089478	0.20390	.	.	ENSG00000134046	ENST00000256429	D	0.98666	-5.06	5.39	1.64	0.23874	.	0.219657	0.37715	N	0.001979	D	0.92815	0.7715	N	0.03324	-0.35	0.80722	D	1	B	0.09022	0.002	B	0.17722	0.019	D	0.84547	0.0642	10	0.25106	T	0.35	-8.3278	8.2329	0.31608	0.0:0.2511:0.0:0.7488	.	276	Q9UBB5	MBD2_HUMAN	D	276	ENSP00000256429:E276D	ENSP00000256429:E276D	E	-	3	2	MBD2	49969254	0.984000	0.35163	0.999000	0.59377	0.998000	0.95712	0.065000	0.14466	0.037000	0.15575	0.460000	0.39030	GAA		0.333	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		138	666	0	0	0	1	0	138	666					G	51715256	T	G	51715256	3	3	79	1	0	0	0	0	1	0	0	0	9384	1722	60	4	423	4	MBD2	18	51715256	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	28996	51715256	26361992	18114	28431											
MBD2	8932	broad.mit.edu	37	chr18	51750412	51750412	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtagtagacatcgctcttgCcagcacttagcccagatttt	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51750412C>T	ENST00000256429.3	-	1	746	c.518G>A	c.(517-519)gGc>gAc	p.G173D	MBD2_ENST00000583046.1_Missense_Mutation_p.G173D|SNORA37_ENST00000384504.1_RNA|MBD2_ENST00000398398.2_Missense_Mutation_p.G173D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	173	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				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)		ATCGCTCTTGCCAGCACTTAG	0.667																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(517-519)gGc>gAc		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						31	31	31					18																	51750412		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51750412C>T	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.518G>A	18.37:g.51750412C>T	ENSP00000256429:p.Gly173Asp					MBD2_ENST00000398398.2_Missense_Mutation_p.G173D|MBD2_ENST00000583046.1_Missense_Mutation_p.G173D	p.G173D	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	1	746	-			173			MBD.		O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.518G>A	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349590	0.41599	.	.	ENSG00000134046	ENST00000256429;ENST00000398398	D;D	0.99470	-5.96;-5.96	4.57	3.68	0.42216	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.074158	0.52532	N	0.000065	D	0.99444	0.9803	M	0.85041	2.73	0.52099	D	0.999944	D;D	0.89917	0.988;1.0	P;D	0.97110	0.85;1.0	D	0.98264	1.0500	10	0.87932	D	0	-12.6095	11.9532	0.52966	0.0:0.9096:0.0:0.0904	.	173;173	Q9UBB5-3;Q9UBB5	.;MBD2_HUMAN	D	173	ENSP00000256429:G173D;ENSP00000381435:G173D	ENSP00000256429:G173D	G	-	2	0	MBD2	50004410	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.193000	0.77780	2.074000	0.62210	0.491000	0.48974	GGC		0.667	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		13	140	0	0	0	1	0	13	140					T	51750412	C	T	51750412	3	4	79	1	0	0	0	0	1	0	0	0	9384	739	26	2	952	2	MBD2	18	51750412	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35156	51750412	26326836	18115	28432											
POLI	11201	broad.mit.edu	37	chr18	51807102	51807102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagattgcagcagagatgCgggaagccatgtataatcag	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51807102C>T	ENST00000579534.1	+	5	768	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000579434.1_Missense_Mutation_p.R106W|POLI_ENST00000406285.3_Intron	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	209	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.R184W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGCAGAGATGCGGGAAGCCAT	0.413								DNA polymerases (catalytic subunits)																														ENST00000579534.1																			1	Substitution - Missense(1)	p.R184W(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(625-627)Cgg>Tgg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota							175	173	174					18																	51807102		2203	4300	6503	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51807102C>T		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.625C>T	18.37:g.51807102C>T	ENSP00000462664:p.Arg209Trp					POLI_ENST00000217800.5_Missense_Mutation_p.R83W|POLI_ENST00000406285.3_Intron|POLI_ENST00000579434.1_Missense_Mutation_p.R106W	p.R209W	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	5	768	+			209			UmuC.		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.625C>T	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256370	0.39896	.	.	ENSG00000101751	ENST00000217800	.	.	.	5.72	3.66	0.41972	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89414	0.3705	9	0.87932	D	0	-12.2842	11.161	0.48516	0.4562:0.5438:0.0:0.0	.	209	Q9UNA4	POLI_HUMAN	W	209	.	ENSP00000217800:R209W	R	+	1	2	POLI	50061100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.595000	0.54016	1.542000	0.49330	0.650000	0.86243	CGG		0.413	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195		144	649	0	0	0	1	0	144	649					T	51807102	C	T	51807102	3	4	79	1	0	0	0	0	1	0	0	0	12245	759	27	1	643	1	POLI	18	51807102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56690	51807102	26270146	18116	28433											
STARD6	147323	broad.mit.edu	37	chr18	51851195	51851195	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttattgatggggacaattttCctctcatttctgtctggaca	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851195C>T	ENST00000581310.1	-	9	903	c.530G>A	c.(529-531)gGa>gAa	p.G177E	STARD6_ENST00000307844.3_Missense_Mutation_p.G177E|STARD6_ENST00000580990.2_Missense_Mutation_p.G53E			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	177	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAATTTTCCTCTCATTTC	0.338																																						ENST00000581310.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8						c.(529-531)gGa>gAa		StAR-related lipid transfer (START) domain containing 6							135	132	133					18																	51851195		2203	4300	6503	SO:0001583	missense	147323				lipid transport		lipid binding	g.chr18:51851195C>T	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.530G>A	18.37:g.51851195C>T	ENSP00000462349:p.Gly177Glu					STARD6_ENST00000307844.3_Missense_Mutation_p.G177E|STARD6_ENST00000580990.2_Missense_Mutation_p.G53E	p.G177E			P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	9	903	-			177			START.			Missense_Mutation	SNP	ENST00000581310.1	37	c.530G>A	CCDS11955.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153918	0.38021	.	.	ENSG00000174448	ENST00000307844	T	0.81415	-1.49	5.53	5.53	0.82687	Lipid-binding START (3);START-like domain (1);	0.000000	0.64402	D	0.000003	D	0.90041	0.6890	M	0.83118	2.625	0.45747	D	0.998645	D	0.89917	1.0	D	0.97110	1.0	D	0.91181	0.4976	10	0.87932	D	0	.	14.9523	0.71083	0.0:1.0:0.0:0.0	.	177	P59095	STAR6_HUMAN	E	177	ENSP00000310814:G177E	ENSP00000310814:G177E	G	-	2	0	STARD6	50105193	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.665000	0.46791	2.586000	0.87340	0.411000	0.27672	GGA		0.338	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		56	259	0	0	0	1	0	56	259					T	51851195	C	T	51851195	3	4	79	1	0	0	0	0	1	0	0	0	15313	855	30	2	135	2	STARD6	18	51851195	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44093	51851195	26226053	18117	28434											
STARD6	147323	broad.mit.edu	37	chr18	51851233	51851233	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatcactagtttggaAtatgctgggtttctgtaagc	9	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851233A>G	ENST00000581310.1	-	9	865	c.492T>C	c.(490-492)taT>taC	p.Y164Y	STARD6_ENST00000307844.3_Silent_p.Y164Y|STARD6_ENST00000580990.2_Silent_p.Y40Y			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	164	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTAGTTTGGAATATGCTGGGT	0.333																																						ENST00000581310.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8						c.(490-492)taT>taC		StAR-related lipid transfer (START) domain containing 6							93	91	92					18																	51851233		2201	4300	6501	SO:0001819	synonymous_variant	147323				lipid transport		lipid binding	g.chr18:51851233A>G	AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"StAR-related lipid transfer (START) domain containing"	18066	protein-coding gene	gene with protein product		607051	"START domain containing 6"			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.492T>C	18.37:g.51851233A>G						STARD6_ENST00000307844.3_Silent_p.Y164Y|STARD6_ENST00000580990.2_Silent_p.Y40Y	p.Y164Y			P59095	STAR6_HUMAN		Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)	9	865	-			164			START.			Silent	SNP	ENST00000581310.1	37	c.492T>C	CCDS11955.1																																																																																				0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256000.3	NM_139171		47	228	0	0	0	1	0	47	228					G	51851233	A	G	51851233	2	3	79	1	0	0	0	0	0	0	0	1	15313	108	4	4		4	STARD6	18	51851233	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38	51851233	26226015	18118	28435											
C18orf54	162681	broad.mit.edu	37	chr18	51889266	51889266	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ataaacttgaagcagacagaTcatgggaaaatattcctgtt	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51889266T>C	ENST00000300091.5	+	4	1047	c.715T>C	c.(715-717)Tca>Cca	p.S239P	C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P|C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	239						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGCAGACAGATCATGGGAAAA	0.343																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(715-717)Tca>Cca		chromosome 18 open reading frame 54							82	81	82					18																	51889266		2203	4300	6503	SO:0001583	missense	162681					extracellular region		g.chr18:51889266T>C	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"lung adenoma susceptibility protein 2"	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.715T>C	18.37:g.51889266T>C	ENSP00000300091:p.Ser239Pro					C18orf54_ENST00000578138.1_Missense_Mutation_p.S18P|C18orf54_ENST00000382911.4_Missense_Mutation_p.S400P	p.S239P	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	4	1047	+			239					I7HFJ6|Q6MZU3|Q6ZTL6	Missense_Mutation	SNP	ENST00000300091.5	37	c.715T>C	CCDS11956.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339833	0.24339	.	.	ENSG00000166845	ENST00000300091;ENST00000382911	T;T	0.48522	0.81;0.81	5.12	3.91	0.45181	.	0.077624	0.53938	D	0.000060	T	0.59362	0.2188	L	0.57536	1.79	0.38418	D	0.946099	P;D	0.61080	0.717;0.989	B;D	0.63957	0.352;0.92	T	0.61888	-0.6970	10	0.54805	T	0.06	-1.4013	9.9255	0.41489	0.1578:0.0:0.0:0.8422	.	400;239	Q8IYD9-2;Q8IYD9	.;CR054_HUMAN	P	239;400	ENSP00000300091:S239P;ENSP00000372368:S400P	ENSP00000300091:S239P	S	+	1	0	C18orf54	50143264	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.740000	0.55082	0.747000	0.32809	0.402000	0.26972	TCA		0.343	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		48	225	0	0	0	1	0	48	225					C	51889266	T	C	51889266	3	2	79	1	0	0	0	0	1	0	0	0	1911	1435	50	4	725	4	C18orf54	18	51889266	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38033	51889266	26187982	18119	28436											
C18orf54	162681	broad.mit.edu	37	chr18	51898889	51898889	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgaagccctgaaacaAatgttatttaaccttcaagc	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51898889A>G	ENST00000300091.5	+	6	1229	c.897A>G	c.(895-897)caA>caG	p.Q299Q	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Silent_p.Q460Q|C18orf54_ENST00000578138.1_Silent_p.Q78Q	NM_173529.4	NP_775800.3	Q8IYD9	LAS2_HUMAN	chromosome 18 open reading frame 54	299						extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CCCTGAAACAAATGTTATTTA	0.358																																						ENST00000300091.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15						c.(895-897)caA>caG		chromosome 18 open reading frame 54							120	112	115					18																	51898889		2203	4300	6503	SO:0001819	synonymous_variant	162681					extracellular region		g.chr18:51898889A>G	AK126503	CCDS11956.1, CCDS74223.1	18q21	2012-10-24			ENSG00000166845	ENSG00000166845			13796	protein-coding gene	gene with protein product	"lung adenoma susceptibility protein 2"	613258					Standard	XM_005258201		Approved	MGC33382, LAS2	uc031rij.1	Q8IYD9	OTTHUMG00000132703	ENST00000300091.5:c.897A>G	18.37:g.51898889A>G						C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Silent_p.Q78Q|C18orf54_ENST00000382911.4_Silent_p.Q460Q	p.Q299Q	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN		Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)	6	1229	+			299					I7HFJ6|Q6MZU3|Q6ZTL6	Silent	SNP	ENST00000300091.5	37	c.897A>G	CCDS11956.1																																																																																				0.358	C18orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256001.1	NM_173529		21	464	0	0	0	1	0	21	464					G	51898889	A	G	51898889	2	3	79	1	0	0	0	0	0	0	0	1	1911	11	1	4		4	C18orf54	18	51898889	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9623	51898889	26178359	18120	28437											
TCF4	6925	broad.mit.edu	37	chr18	52901874	52901874	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtttggcagaagagaatggCtgcctctcagggccacgcca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:52901874C>A	ENST00000356073.4	-	16	2002	c.1391G>T	c.(1390-1392)aGc>aTc	p.S464I	TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000354452.3_Missense_Mutation_p.S464I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I|TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	464					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)		AAGAGAATGGCTGCCTCTCAG	0.597											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354452.3																			0				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						c.(1390-1392)aGc>aTc		transcription factor 4							108	111	110					18																	52901874		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52901874C>A	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.1391G>T	18.37:g.52901874C>A	ENSP00000348374:p.Ser464Ile		OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	TCF4_ENST00000564228.1_Missense_Mutation_p.S393I|TCF4_ENST00000537578.1_Missense_Mutation_p.S440I|TCF4_ENST00000565018.2_Missense_Mutation_p.S464I|TCF4_ENST00000566286.1_Missense_Mutation_p.S461I|TCF4_ENST00000457482.3_Missense_Mutation_p.S304I|TCF4_ENST00000567880.1_Missense_Mutation_p.S404I|TCF4_ENST00000543082.1_Missense_Mutation_p.S422I|TCF4_ENST00000564403.2_Missense_Mutation_p.S470I|TCF4_ENST00000544241.2_Missense_Mutation_p.S393I|TCF4_ENST00000561992.1_Missense_Mutation_p.S334I|TCF4_ENST00000566279.1_Missense_Mutation_p.S404I|TCF4_ENST00000356073.4_Missense_Mutation_p.S464I|TCF4_ENST00000561831.3_Missense_Mutation_p.S304I|TCF4_ENST00000398339.1_Missense_Mutation_p.S566I|TCF4_ENST00000568740.1_Missense_Mutation_p.S439I|TCF4_ENST00000564999.1_Missense_Mutation_p.S464I|TCF4_ENST00000568673.1_Missense_Mutation_p.S440I|TCF4_ENST00000570177.2_Missense_Mutation_p.S334I|TCF4_ENST00000570287.2_Missense_Mutation_p.S304I|TCF4_ENST00000540999.1_Missense_Mutation_p.S440I|TCF4_ENST00000537856.3_Missense_Mutation_p.S334I	p.S464I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	16	2002	-			464					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1391G>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177483	0.78564	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.5	5.5	0.81552	.	0.044173	0.85682	D	0.000000	T	0.70902	0.3277	L	0.55213	1.73	0.53688	D	0.999972	P;D;P;D;B;P;P;P;P	0.61080	0.69;0.98;0.887;0.989;0.072;0.713;0.713;0.936;0.744	P;P;P;P;B;B;P;B;B	0.61201	0.536;0.844;0.474;0.885;0.015;0.434;0.467;0.367;0.272	T	0.72340	-0.4323	10	0.72032	D	0.01	-8.8053	18.543	0.91037	0.0:1.0:0.0:0.0	.	440;464;304;566;464;422;393;304;461	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	I	464;304;464;422;440;440;393;334;566	ENSP00000346440:S464I;ENSP00000409447:S304I;ENSP00000348374:S464I;ENSP00000439656:S422I;ENSP00000445202:S440I;ENSP00000440731:S440I;ENSP00000441562:S393I;ENSP00000439827:S334I;ENSP00000381382:S566I	ENSP00000346440:S464I	S	-	2	0	TCF4	51052872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.770000	0.55310	2.758000	0.94735	0.563000	0.77884	AGC		0.597	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		82	452	1	0	9.25274e-37	1	1.1089e-36	82	452					A	52901874	C	A	52901874	3	1	79	1	0	0	0	0	1	0	0	0	15747	797	28	3	640	3	TCF4	18	52901874	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1002985	52901874	25175374	18121	28438											
TCF4	6925	broad.mit.edu	37	chr18	53018198	53018198	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgggcgaaagggttcctgGgttgcccatatccatgtcac	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53018198G>T	ENST00000356073.4	-	7	1017	c.406C>A	c.(406-408)Cca>Aca	p.P136T	TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000354452.3_Missense_Mutation_p.P136T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T|TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	136					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)		AGGGTTCCTGGGTTGCCCATA	0.453																																						ENST00000354452.3																			0				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						c.(406-408)Cca>Aca		transcription factor 4							109	104	106					18																	53018198		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:53018198G>T	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.406C>A	18.37:g.53018198G>T	ENSP00000348374:p.Pro136Thr					TCF4_ENST00000564228.1_Missense_Mutation_p.P65T|TCF4_ENST00000537578.1_Missense_Mutation_p.P112T|TCF4_ENST00000565018.2_Missense_Mutation_p.P136T|TCF4_ENST00000566286.1_Missense_Mutation_p.P134T|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000543082.1_Missense_Mutation_p.P94T|TCF4_ENST00000564403.2_Missense_Mutation_p.P136T|TCF4_ENST00000544241.2_Missense_Mutation_p.P65T|TCF4_ENST00000561992.1_Missense_Mutation_p.P6T|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000356073.4_Missense_Mutation_p.P136T|TCF4_ENST00000398339.1_Missense_Mutation_p.P238T|TCF4_ENST00000568740.1_Missense_Mutation_p.P111T|TCF4_ENST00000564999.1_Missense_Mutation_p.P136T|TCF4_ENST00000568673.1_Missense_Mutation_p.P112T|TCF4_ENST00000570177.2_Missense_Mutation_p.P6T|TCF4_ENST00000540999.1_Missense_Mutation_p.P112T|TCF4_ENST00000537856.3_Missense_Mutation_p.P6T	p.P136T	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	7	1017	-			136					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.406C>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271410	0.40194	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.57	5.57	0.84162	.	0.151693	0.46145	D	0.000317	T	0.56337	0.1978	L	0.39245	1.2	0.32176	N	0.58106	B;B;B;B;B;B;B	0.25850	0.058;0.0;0.058;0.001;0.019;0.136;0.136	B;B;B;B;B;B;B	0.30782	0.076;0.002;0.102;0.0;0.015;0.076;0.12	T	0.65541	-0.6143	10	0.72032	D	0.01	-26.7506	13.6319	0.62200	0.0:0.0:0.8448:0.1552	.	112;136;112;238;136;94;65	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	T	136;136;94;112;112;65;6;238	ENSP00000346440:P136T;ENSP00000348374:P136T;ENSP00000439656:P94T;ENSP00000445202:P112T;ENSP00000440731:P112T;ENSP00000441562:P65T;ENSP00000439827:P6T;ENSP00000381382:P238T	ENSP00000346440:P136T	P	-	1	0	TCF4	51169196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.781000	0.95711	0.655000	0.94253	CCA		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		75	377	1	0	8.50452e-49	1	1.05053e-48	75	377					T	53018198	G	T	53018198	3	4	79	1	0	0	0	0	1	0	0	0	15747	1232	43	3	1661	3	TCF4	18	53018198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116324	53018198	25059050	18122	28439											
TCF4	6925	broad.mit.edu	37	chr18	53254332	53254332	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccctaaggcagccattcGctgttggtgatgcattttag	11	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53254332G>A	ENST00000356073.4	-	2	627	c.16C>T	c.(16-18)Cga>Tga	p.R6*	TCF4_ENST00000566279.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000568673.1_5'Flank|TCF4_ENST00000354452.3_Nonsense_Mutation_p.R6*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.R108*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000540999.1_5'Flank|TCF4_ENST00000564403.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000568740.1_Intron	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	6	Essential for MYOD1 inhibition. {ECO:0000250}.				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)		GCAGCCATTCGCTGTTGGTGA	0.423																																						ENST00000354452.3																			0				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						c.(16-18)Cga>Tga		transcription factor 4							90	78	82					18																	53254332		2203	4300	6503	SO:0001587	stop_gained	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:53254332G>A	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.16C>T	18.37:g.53254332G>A	ENSP00000348374:p.Arg6*					TCF4_ENST00000537578.1_Intron|TCF4_ENST00000565018.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000567880.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.R6*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.R6*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.R6*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.R108*|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000564999.1_Nonsense_Mutation_p.R6*	p.R6*	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	2	627	-			6			Essential for MYOD1 inhibition (By similarity).		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Nonsense_Mutation	SNP	ENST00000356073.4	37	c.16C>T	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	G	37	5.979610	0.97168	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000398339	.	.	.	5.61	5.61	0.85477	.	0.000000	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.9293	15.8635	0.79043	0.0:0.1359:0.8641:0.0	.	.	.	.	X	6;6;108	.	ENSP00000346440:R6X	R	-	1	2	TCF4	51405330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.478000	0.81082	2.642000	0.89623	0.561000	0.74099	CGA		0.423	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		10	266	0	0	0	1	0	10	266					A	53254332	G	A	53254332	4	1	79	1	0	0	0	0	0	1	0	0	15747	1095	38	1	2071	1	TCF4	18	53254332	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	236134	53254332	24822916	18123	28440											
TXNL1	9352	broad.mit.edu	37	chr18	54281785	54281785	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcttcaaaatccatagatCggggtaggttgataaaaatt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54281785C>T	ENST00000217515.6	-	6	809	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q|TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	202	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATCCATAGATCGGGGTAGGTT	0.348																																						ENST00000217515.6																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(604-606)cGa>cAa		thioredoxin-like 1							103	97	99					18																	54281785		2203	4300	6503	SO:0001583	missense	9352				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity	g.chr18:54281785C>T	AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.605G>A	18.37:g.54281785C>T	ENSP00000217515:p.Arg202Gln					TXNL1_ENST00000590954.1_Missense_Mutation_p.R202Q|TXNL1_ENST00000540155.1_Missense_Mutation_p.R79Q	p.R202Q	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN		READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)	6	809	-			202			PITH.			Missense_Mutation	SNP	ENST00000217515.6	37	c.605G>A	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670429	0.67814	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.16897	2.31	5.61	5.61	0.85477	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.062472	0.64402	D	0.000003	T	0.21801	0.0525	L	0.51853	1.615	0.80722	D	1	P;P	0.49307	0.575;0.922	B;B	0.43916	0.162;0.436	T	0.01725	-1.1287	10	0.20046	T	0.44	.	19.2387	0.93873	0.0:1.0:0.0:0.0	.	202;202	B2R960;O43396	.;TXNL1_HUMAN	Q	202;79	ENSP00000217515:R202Q	ENSP00000217515:R202Q	R	-	2	0	TXNL1	52432783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.636000	0.67848	2.621000	0.88768	0.650000	0.86243	CGA		0.348	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2			36	191	0	0	0	1	0	36	191					T	54281785	C	T	54281785	3	4	79	1	0	0	0	0	1	0	0	0	16858	884	31	1	276	1	TXNL1	18	54281785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1027453	54281785	23795463	18124	28441											
WDR7	23335	broad.mit.edu	37	chr18	54385226	54385226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactgcatctgctctgtagCcagtgaccactcagtaggac	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54385226C>T	ENST00000254442.3	+	13	1821	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	WDR7_ENST00000357574.3_Missense_Mutation_p.A537V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	537					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)		TGCTCTGTAGCCAGTGACCAC	0.363																																						ENST00000254442.3																			0				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						c.(1609-1611)gCc>gTc		WD repeat domain 7							132	121	125					18																	54385226		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54385226C>T	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.1610C>T	18.37:g.54385226C>T	ENSP00000254442:p.Ala537Val					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A537V	p.A537V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	13	1821	+			537					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1610C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806809	0.90623	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69306	-0.39;-0.37	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.76002	2.32	0.80722	D	1	P;P	0.44946	0.846;0.813	B;B	0.43783	0.431;0.357	T	0.75508	-0.3293	10	0.72032	D	0.01	.	14.7507	0.69522	0.0:0.8555:0.1445:0.0	.	537;537	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	537	ENSP00000254442:A537V;ENSP00000350187:A537V	ENSP00000254442:A537V	A	+	2	0	WDR7	52536224	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.909000	0.69923	2.632000	0.89209	0.655000	0.94253	GCC		0.363	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			107	485	0	0	0	1	0	107	485					T	54385226	C	T	54385226	3	4	79	1	0	0	0	0	1	0	0	0	17374	739	26	2	1656	2	WDR7	18	54385226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103441	54385226	23692022	18125	28442											
WDR7	23335	broad.mit.edu	37	chr18	54423953	54423953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgaagaagcctctaggcCgaatactgctcttatttccc	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54423953C>T	ENST00000254442.3	+	15	2340	c.2129C>T	c.(2128-2130)cCg>cTg	p.P710L	WDR7_ENST00000357574.3_Missense_Mutation_p.P710L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	710					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)		GCCTCTAGGCCGAATACTGCT	0.433																																						ENST00000254442.3																			0				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						c.(2128-2130)cCg>cTg		WD repeat domain 7							76	79	78					18																	54423953		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54423953C>T	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.2129C>T	18.37:g.54423953C>T	ENSP00000254442:p.Pro710Leu					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.P710L	p.P710L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2340	+			710					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2129C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	9.215	1.031908	0.19590	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.66638	-0.22;-0.2	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	N	0.03608	-0.345	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.85130	0.861;0.997	T	0.69815	-0.5043	10	0.28530	T	0.3	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	710;710	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	L	710	ENSP00000254442:P710L;ENSP00000350187:P710L	ENSP00000254442:P710L	P	+	2	0	WDR7	52574951	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.640000	0.83355	2.826000	0.97356	0.655000	0.94253	CCG		0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			18	508	0	0	0	1	0	18	508					T	54423953	C	T	54423953	3	4	79	1	0	0	0	0	1	0	0	0	17374	652	23	1	2183	1	WDR7	18	54423953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38727	54423953	23653295	18126	28443											
WDR7	23335	broad.mit.edu	37	chr18	54547231	54547231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacatcttacgaggaaagaCggaagcaagctaccgctatt	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54547231C>T	ENST00000254442.3	+	21	3572	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1121					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)		CGAGGAAAGACGGAAGCAAGC	0.378																																						ENST00000254442.3																			0				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						c.(3361-3363)Cgg>Tgg		WD repeat domain 7							92	84	87					18																	54547231		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54547231C>T	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.3361C>T	18.37:g.54547231C>T	ENSP00000254442:p.Arg1121Trp					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1088W	p.R1121W	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3572	+			1121					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3361C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742449	0.69418	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.73575	-0.76;2.16	5.37	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.82710	0.5096	L	0.60455	1.87	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	D	0.83560	0.0106	10	0.87932	D	0	.	13.5355	0.61644	0.5367:0.4633:0.0:0.0	.	1088;1121	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	1121;1088;446;1088	ENSP00000254442:R1121W;ENSP00000350187:R1088W	ENSP00000254442:R1121W	R	+	1	2	WDR7	52698229	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	1.987000	0.40687	0.655000	0.30866	0.655000	0.94253	CGG		0.378	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			52	281	0	0	0	1	0	52	281					T	54547231	C	T	54547231	3	4	79	1	0	0	0	0	1	0	0	0	17374	527	19	1	3439	1	WDR7	18	54547231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123278	54547231	23530017	18127	28444											
ONECUT2	9480	broad.mit.edu	37	chr18	55103370	55103370	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgactcgtctccgcctgGcatgggcatgagcaacacct	11	15	1	1	rs375937685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55103370G>T	ENST00000491143.2	+	1	454	c.422G>T	c.(421-423)gGc>gTc	p.G141V	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	141					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)		TCTCCGCCTGGCATGGGCATG	0.657																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(421-423)gGc>gTc		one cut homeobox 2		G	VAL/GLY	0,4406		0,0,2203	47	52	50		422	2.3	1	18		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	ONECUT2	NM_004852.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	141/505	55103370	1,13005	2203	4300	6503	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103370G>T	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.422G>T	18.37:g.55103370G>T	ENSP00000419185:p.Gly141Val						p.G141V	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	454	+		Colorectal(73;0.234)	141						Missense_Mutation	SNP	ENST00000491143.2	37	c.422G>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265483	0.59431	0.0	1.16E-4	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	2.34	2.34	0.29019	.	0.000000	0.48286	U	0.000194	T	0.75568	0.3867	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78107	-0.2333	9	0.72032	D	0.01	.	11.3876	0.49796	0.0:0.0:1.0:0.0	.	141	O95948	ONEC2_HUMAN	V	122;141	.	ENSP00000262095:G141V	G	+	2	0	ONECUT2	53254368	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	8.680000	0.91225	1.133000	0.42147	0.305000	0.20034	GGC		0.657	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			26	145	1	0	2.44723e-14	1	2.65813e-14	26	145					T	55103370	G	T	55103370	3	4	79	1	0	0	0	0	1	0	0	0	10911	1203	42	3	424	3	ONECUT2	18	55103370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556139	55103370	22973878	18128	28445											
ATP8B1	5205	broad.mit.edu	37	chr18	55315895	55315895	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcggaacacctgctgcCgtcgctgccactgctcctcc	10	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55315895C>T	ENST00000283684.4	-	27	3580	c.3581G>A	c.(3580-3582)cGg>cAg	p.R1194Q	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R1194Q|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1194					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)				CACCTGCTGCCGTCGCTGCCA	0.652																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(3580-3582)cGg>cAg		ATPase, aminophospholipid transporter, class I, type 8B, member 1							16	17	16					18																	55315895		2177	4251	6428	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55315895C>T	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.3581G>A	18.37:g.55315895C>T	ENSP00000283684:p.Arg1194Gln					RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R1194Q|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA	p.R1194Q	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			28	3700	-		Colorectal(73;0.229)	1194					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.3581G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258346	0.59321	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.39229	1.09;1.09	5.27	5.27	0.74061	.	0.061324	0.64402	D	0.000004	T	0.42337	0.1198	L	0.58302	1.8	0.58432	D	0.999994	B	0.27498	0.18	B	0.23150	0.044	T	0.26849	-1.0091	10	0.33940	T	0.23	.	18.4925	0.90853	0.0:1.0:0.0:0.0	.	1194	O43520	AT8B1_HUMAN	Q	1194	ENSP00000283684:R1194Q;ENSP00000445359:R1194Q	ENSP00000283684:R1194Q	R	-	2	0	ATP8B1	53466893	0.959000	0.32827	0.824000	0.32777	0.497000	0.33675	1.654000	0.37334	2.456000	0.83038	0.561000	0.74099	CGG		0.652	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		17	60	0	0	0	1	0	17	60					T	55315895	C	T	55315895	3	4	79	1	0	0	0	0	1	0	0	0	1195	652	23	1	178	1	ATP8B1	18	55315895	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212525	55315895	22761353	18129	28446											
ATP8B1	5205	broad.mit.edu	37	chr18	55362414	55362414	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtacctgcaaaaatgActaagccgtggcagaaatcg	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55362414A>G	ENST00000283684.4	-	9	928	c.929T>C	c.(928-930)gTc>gCc	p.V310A	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.V310A|ATP8B1_ENST00000589147.1_5'Flank|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	310					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)				TGCAAAAATGACTAAGCCGTG	0.388																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(928-930)gTc>gCc		ATPase, aminophospholipid transporter, class I, type 8B, member 1							77	76	76					18																	55362414		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55362414A>G	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.929T>C	18.37:g.55362414A>G	ENSP00000283684:p.Val310Ala					RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.V310A	p.V310A	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			10	1048	-		Colorectal(73;0.229)	310					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.929T>C	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690660	0.68271	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.95342	-3.68;-3.68	5.34	5.34	0.76211	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.121704	0.53938	D	0.000042	D	0.93184	0.7829	L	0.55834	1.745	0.80722	D	1	P	0.40000	0.698	B	0.41174	0.349	D	0.93818	0.7116	10	0.87932	D	0	.	14.9861	0.71348	1.0:0.0:0.0:0.0	.	310	O43520	AT8B1_HUMAN	A	310	ENSP00000283684:V310A;ENSP00000445359:V310A	ENSP00000283684:V310A	V	-	2	0	ATP8B1	53513412	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.100000	0.94213	2.025000	0.59659	0.533000	0.62120	GTC		0.388	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		54	220	0	0	0	1	0	54	220					G	55362414	A	G	55362414	3	3	79	1	0	0	0	0	1	0	0	0	1195	275	10	4	2902	4	ATP8B1	18	55362414	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46519	55362414	22714834	18130	28447											
ATP8B1	5205	broad.mit.edu	37	chr18	55365052	55365052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaatcattttttttcagaCgaatgacgtctccaacttga	5	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55365052C>T	ENST00000283684.4	-	6	601	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.R201H|ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	201					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)				TTTTTTCAGACGAATGACGTC	0.398																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(601-603)cGt>cAt		ATPase, aminophospholipid transporter, class I, type 8B, member 1							65	69	68					18																	55365052		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55365052C>T	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.602G>A	18.37:g.55365052C>T	ENSP00000283684:p.Arg201His					ATP8B1_ENST00000589147.1_5'UTR|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R201H	p.R201H	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			7	721	-		Colorectal(73;0.229)	201					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.602G>A	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267877	0.95399	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.90504	-2.68;-2.68	6.04	6.04	0.98038	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94613	0.7806	10	0.66056	D	0.02	.	20.1899	0.98228	0.0:1.0:0.0:0.0	.	201	O43520	AT8B1_HUMAN	H	201	ENSP00000283684:R201H;ENSP00000445359:R201H	ENSP00000283684:R201H	R	-	2	0	ATP8B1	53516050	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.979000	0.63806	2.873000	0.98535	0.563000	0.77884	CGT		0.398	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		43	158	0	0	0	1	0	43	158					T	55365052	C	T	55365052	3	4	79	1	0	0	0	0	1	0	0	0	1195	536	19	1	3241	1	ATP8B1	18	55365052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2638	55365052	22712196	18131	28448											
NEDD4L	23327	broad.mit.edu	37	chr18	55998025	55998025	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagactctctcggtctggCtctgcccccaccaccggcct	10	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55998025C>T	ENST00000400345.3	+	11	1152	c.869C>T	c.(868-870)gCt>gTt	p.A290V	NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.A169V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	290					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						CTCGGTCTGGCTCTGCCCCCA	0.552																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(505-507)gCt>gTt		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase							44	46	46					18																	55998025		1879	4100	5979	SO:0001583	missense	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55998025C>T	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.869C>T	18.37:g.55998025C>T	ENSP00000383199:p.Ala290Val					NEDD4L_ENST00000382850.4_Missense_Mutation_p.A290V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.A282V|NEDD4L_ENST00000400345.3_Missense_Mutation_p.A290V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.A290V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.A169V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.A282V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.A169V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.A290V	p.A169V	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			11	1106	+			290					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.506C>T	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300116	0.23650	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.33654	1.43;1.4;1.42;1.42;1.9;1.92;1.83;1.9;1.9;1.92	5.58	2.31	0.28768	.	1.280920	0.05285	N	0.520104	T	0.26919	0.0659	N	0.22421	0.69	0.25577	N	0.986832	B;B;B;B;B;B;B	0.18968	0.0;0.002;0.006;0.0;0.0;0.001;0.032	B;B;B;B;B;B;B	0.22152	0.001;0.006;0.009;0.001;0.002;0.002;0.038	T	0.26503	-1.0101	10	0.29301	T	0.29	.	8.0142	0.30372	0.1315:0.7125:0.0:0.1561	.	290;282;282;169;290;290;290	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	290;290;290;290;169;169;282;169;169;169	ENSP00000383199:A290V;ENSP00000372301:A290V;ENSP00000348847:A290V;ENSP00000256830:A290V;ENSP00000256832:A169V;ENSP00000411947:A169V;ENSP00000350569:A282V;ENSP00000393395:A169V;ENSP00000405440:A169V;ENSP00000389406:A169V	ENSP00000256830:A290V	A	+	2	0	NEDD4L	54149005	0.697000	0.27767	0.035000	0.18076	0.251000	0.25915	1.091000	0.30915	0.689000	0.31550	0.655000	0.94253	GCT		0.552	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			25	126	0	0	0	1	0	25	126					T	55998025	C	T	55998025	3	4	79	1	0	0	0	0	1	0	0	0	10353	797	28	2	939	2	NEDD4L	18	55998025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	632973	55998025	22079223	18132	28449											
ALPK2	115701	broad.mit.edu	37	chr18	56184276	56184276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtgcatcactgtgctgCggaaggctttgcggtgaacc	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56184276C>T	ENST00000361673.3	-	9	6017	c.5804G>A	c.(5803-5805)cGc>cAc	p.R1935H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1935	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						CACTGTGCTGCGGAAGGCTTT	0.557																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(5803-5805)cGc>cAc		alpha-kinase 2							151	132	139					18																	56184276		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184276C>T	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.5804G>A	18.37:g.56184276C>T	ENSP00000354991:p.Arg1935His						p.R1935H	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			9	6017	-			1935			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5804G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873107	0.91664	.	.	ENSG00000198796	ENST00000361673	T	0.15372	2.43	5.75	5.75	0.90469	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	T	0.41743	0.1172	L	0.56769	1.78	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.07271	-1.0781	10	0.59425	D	0.04	-17.7765	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1935	Q86TB3	ALPK2_HUMAN	H	1935	ENSP00000354991:R1935H	ENSP00000354991:R1935H	R	-	2	0	ALPK2	54335256	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.385000	0.79763	2.716000	0.92895	0.655000	0.94253	CGC		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		49	467	0	0	0	1	0	49	467					T	56184276	C	T	56184276	3	4	79	1	0	0	0	0	1	0	0	0	545	768	27	1	728	1	ALPK2	18	56184276	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186251	56184276	21892972	18133	28450											
ALPK2	115701	broad.mit.edu	37	chr18	56246527	56246527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacaagagcttcatctctGtctctcttactgattcatcc	5	13	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56246527G>A	ENST00000361673.3	-	4	1694	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	494						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						CTTCATCTCTGTCTCTCTTAC	0.488											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1480-1482)aCa>aTa		alpha-kinase 2							153	154	154					18																	56246527		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246527G>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1481C>T	18.37:g.56246527G>A	ENSP00000354991:p.Thr494Ile		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.T494I	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1694	-			494					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1481C>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943255	0.18281	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	3.35	-4.88	0.03113	.	2.060150	0.02265	N	0.067870	T	0.29423	0.0733	L	0.39898	1.24	0.09310	N	1	B	0.31256	0.316	B	0.26202	0.067	T	0.15607	-1.0431	10	0.56958	D	0.05	-0.0428	3.7053	0.08398	0.1041:0.1574:0.5208:0.2177	.	494	Q86TB3	ALPK2_HUMAN	I	494	ENSP00000354991:T494I	ENSP00000354991:T494I	T	-	2	0	ALPK2	54397507	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.096000	0.11059	-1.184000	0.02720	-0.181000	0.13052	ACA		0.488	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		135	532	0	0	0	1	0	135	532					A	56246527	G	A	56246527	3	1	79	1	0	0	0	0	1	0	0	0	545	1377	48	2	5071	2	ALPK2	18	56246527	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62251	56246527	21830721	18134	28451											
MALT1	10892	broad.mit.edu	37	chr18	56348560	56348560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagttcttcagcttctcaGccccccaggtaggttttgtt	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56348560G>A	ENST00000348428.3	+	2	626	c.368G>A	c.(367-369)aGc>aAc	p.S123N	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S123N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	123	Death.				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						CAGCTTCTCAGCCCCCCAGGT	0.428			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(367-369)aGc>aAc		mucosa associated lymphoid tissue lymphoma translocation gene 1							71	66	68					18																	56348560		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56348560G>A		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.368G>A	18.37:g.56348560G>A	ENSP00000319279:p.Ser123Asn					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S123N	p.S123N	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			2	626	+			123			Death.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.368G>A	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265601	0.23136	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.58940	0.3;0.3	6.03	2.81	0.32909	DEATH-like (2);	0.270585	0.47093	N	0.000243	T	0.39733	0.1089	L	0.29908	0.895	0.25731	N	0.985262	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.004	T	0.18681	-1.0329	10	0.18710	T	0.47	-7.9095	8.2378	0.31636	0.429:0.0:0.571:0.0	.	123;123	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	N	123	ENSP00000319279:S123N;ENSP00000304161:S123N	ENSP00000304161:S123N	S	+	2	0	MALT1	54499540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.116000	0.41930	0.632000	0.30432	0.557000	0.71058	AGC		0.428	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			36	160	0	0	0	1	0	36	160					A	56348560	G	A	56348560	3	1	79	1	0	0	0	0	1	0	0	0	9243	971	34	2	374	2	MALT1	18	56348560	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102033	56348560	21728688	18135	28452											
ZNF532	55205	broad.mit.edu	37	chr18	56585789	56585789	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccactggcaatggcttacaTaatgggtttctcacagcatc	8	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56585789T>C	ENST00000336078.4	+	4	1046	c.270T>C	c.(268-270)caT>caC	p.H90H	ZNF532_ENST00000589288.1_Silent_p.H90H|ZNF532_ENST00000591230.1_Silent_p.H90H|ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	90					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						ATGGCTTACATAATGGGTTTC	0.502																																						ENST00000336078.4																			0				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						c.(268-270)caT>caC		zinc finger protein 532							90	75	80					18																	56585789		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56585789T>C	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.270T>C	18.37:g.56585789T>C						ZNF532_ENST00000591808.1_Silent_p.H90H|ZNF532_ENST00000589288.1_Silent_p.H90H|ZNF532_ENST00000591083.1_Silent_p.H90H|ZNF532_ENST00000591230.1_Silent_p.H90H	p.H90H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	1046	+			90					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.270T>C	CCDS11969.1																																																																																				0.502	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		41	188	0	0	0	1	0	41	188					C	56585789	T	C	56585789	2	2	79	1	0	0	0	0	0	0	0	1	18025	1403	49	4		4	ZNF532	18	56585789	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	237229	56585789	21491459	18136	28453											
ZNF532	55205	broad.mit.edu	37	chr18	56586899	56586899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtctgctgtgaagacGgcaggatcccaagtcattaa	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56586899G>A	ENST00000336078.4	+	4	2156	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	ZNF532_ENST00000589288.1_Silent_p.T460T|ZNF532_ENST00000591230.1_Silent_p.T460T|ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						CTGTGAAGACGGCAGGATCCC	0.547																																						ENST00000336078.4																			0				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						c.(1378-1380)acG>acA		zinc finger protein 532																																				SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56586899G>A	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.1380G>A	18.37:g.56586899G>A						ZNF532_ENST00000591808.1_Silent_p.T460T|ZNF532_ENST00000589288.1_Silent_p.T460T|ZNF532_ENST00000591083.1_Silent_p.T460T|ZNF532_ENST00000591230.1_Silent_p.T460T	p.T460T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			4	2156	+			460					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.1380G>A	CCDS11969.1																																																																																				0.547	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		33	196	0	0	0	1	0	33	196					A	56586899	G	A	56586899	2	1	79	1	0	0	0	0	0	0	0	1	18025	1103	39	1		1	ZNF532	18	56586899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1110	56586899	21490349	18137	28454											
ZNF532	55205	broad.mit.edu	37	chr18	56615358	56615358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcaaaccttgctgtatcGccactttgaccaacacattg	6	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56615358G>A	ENST00000336078.4	+	7	3541	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H	ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	922					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						TTGCTGTATCGCCACTTTGAC	0.418																																						ENST00000336078.4																			0				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						c.(2764-2766)cGc>cAc		zinc finger protein 532							122	119	120					18																	56615358		2203	4297	6500	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56615358G>A	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.2765G>A	18.37:g.56615358G>A	ENSP00000338217:p.Arg922His					ZNF532_ENST00000591808.1_Missense_Mutation_p.R922H|ZNF532_ENST00000589288.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591083.1_Missense_Mutation_p.R922H|ZNF532_ENST00000591230.1_Missense_Mutation_p.R922H	p.R922H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			7	3541	+			922					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.2765G>A	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883244	0.91740	.	.	ENSG00000074657	ENST00000336078	T	0.30981	1.51	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.294510	0.35262	N	0.003333	T	0.40448	0.1117	L	0.60067	1.865	0.34671	D	0.723747	D;D	0.67145	0.991;0.996	P;P	0.48270	0.511;0.572	T	0.49322	-0.8952	10	0.36615	T	0.2	-16.9644	18.7313	0.91736	0.0:0.0:1.0:0.0	.	922;922	B3KXW2;Q9HCE3	.;ZN532_HUMAN	H	922	ENSP00000338217:R922H	ENSP00000338217:R922H	R	+	2	0	ZNF532	54766338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.906000	0.75719	2.783000	0.95769	0.655000	0.94253	CGC		0.418	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		129	662	0	0	0	1	0	129	662					A	56615358	G	A	56615358	3	1	79	1	0	0	0	0	1	0	0	0	18025	1087	38	1	2779	1	ZNF532	18	56615358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28459	56615358	21461890	18138	28455											
ZNF532	55205	broad.mit.edu	37	chr18	56651207	56651207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttccctgaaaggtcCccagtcccaagcggaagttg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56651207C>T	ENST00000336078.4	+	11	4191	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1139					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						CTGAAAGGTCCCCAGTCCCAA	0.453																																						ENST00000336078.4																			0				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						c.(3415-3417)Ccc>Tcc		zinc finger protein 532							83	86	85					18																	56651207		2203	4300	6503	SO:0001583	missense	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56651207C>T	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.3415C>T	18.37:g.56651207C>T	ENSP00000338217:p.Pro1139Ser					ZNF532_ENST00000591808.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591083.1_Missense_Mutation_p.P1139S|ZNF532_ENST00000591230.1_Missense_Mutation_p.P1139S	p.P1139S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			11	4191	+			1139					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	c.3415C>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493039	0.44352	.	.	ENSG00000074657	ENST00000336078	T	0.01495	4.83	5.84	5.84	0.93424	.	0.241087	0.42964	D	0.000630	T	0.02083	0.0065	L	0.38838	1.175	0.34340	D	0.688615	B;B	0.32939	0.063;0.391	B;B	0.28139	0.018;0.086	T	0.57142	-0.7862	10	0.24483	T	0.36	.	15.2524	0.73559	0.0:0.8599:0.1401:0.0	.	1139;1139	B3KXW2;Q9HCE3	.;ZN532_HUMAN	S	1139	ENSP00000338217:P1139S	ENSP00000338217:P1139S	P	+	1	0	ZNF532	54802187	0.737000	0.28175	0.991000	0.47740	0.270000	0.26580	1.743000	0.38258	2.769000	0.95229	0.561000	0.74099	CCC		0.453	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		52	293	0	0	0	1	0	52	293					T	56651207	C	T	56651207	3	4	79	1	0	0	0	0	1	0	0	0	18025	623	22	2	3445	2	ZNF532	18	56651207	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35849	56651207	21426041	18139	28456											
CPLX4	339302	broad.mit.edu	37	chr18	56964052	56964052	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatctgcccaagaatagaatCtttatcttcttcctcttctt	3	11	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56964052C>T	ENST00000299721.3	-	3	547	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	121					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.D121Y(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418																																						ENST00000299721.3																			1	Substitution - Missense(1)	p.D121Y(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16						c.(361-363)Gat>Aat		complexin 4							122	111	115					18																	56964052		2203	4300	6503	SO:0001583	missense	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56964052C>T	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.361G>A	18.37:g.56964052C>T	ENSP00000299721:p.Asp121Asn					CPLX4_ENST00000587244.1_Intron	p.D121N	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN			3	547	-		Colorectal(73;0.175)	121					F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	c.361G>A	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897524	0.72639	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.087184	0.85682	D	0.000000	T	0.68659	0.3025	L	0.52759	1.655	0.80722	D	1	B	0.20887	0.049	B	0.35240	0.198	T	0.62950	-0.6745	9	0.34782	T	0.22	0.2791	19.3422	0.94347	0.0:1.0:0.0:0.0	.	121	Q7Z7G2	CPLX4_HUMAN	N	121	.	ENSP00000299721:D121N	D	-	1	0	CPLX4	55115032	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.723000	0.68492	2.653000	0.90120	0.561000	0.74099	GAT		0.418	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		38	185	0	0	0	1	0	38	185					T	56964052	C	T	56964052	3	4	79	1	0	0	0	0	1	0	0	0	3816	913	32	2	125	2	CPLX4	18	56964052	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312845	56964052	21113196	18140	28457											
CCBE1	147372	broad.mit.edu	37	chr18	57115222	57115222	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccacactcaccgggaggGccctggcccccaggcaggcc	12	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115222G>A	ENST00000439986.4	-	7	805	c.768C>T	c.(766-768)ggC>ggT	p.G256G	CCBE1_ENST00000398179.2_Missense_Mutation_p.A32V	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	256	Collagen-like 1.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CACCGGGAGGGCCCTGGCCCC	0.582																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000398179.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(94-96)gCc>gTc		collagen and calcium binding EGF domains 1							92	81	85					18																	57115222		2203	4300	6503	SO:0001819	synonymous_variant	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57115222G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.768C>T	18.37:g.57115222G>A						CCBE1_ENST00000439986.4_Silent_p.G256G	p.A32V			Q6UXH8	CCBE1_HUMAN			5	557	-		Colorectal(73;0.175)	303					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.95C>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855409	0.32791	.	.	ENSG00000183287	ENST00000398179	D	0.84070	-1.8	5.62	2.72	0.32119	.	.	.	.	.	T	0.72471	0.3464	.	.	.	0.09310	N	0.999998	B	0.13594	0.008	B	0.14578	0.011	T	0.62886	-0.6759	8	0.66056	D	0.02	-24.2524	3.7746	0.08654	0.2623:0.0:0.5666:0.1711	.	32	Q6UXH8-2	.	V	32	ENSP00000381241:A32V	ENSP00000381241:A32V	A	-	2	0	CCBE1	55266202	0.996000	0.38824	1.000000	0.80357	0.688000	0.40055	0.196000	0.17176	0.746000	0.32786	0.591000	0.81541	GCC		0.582	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		102	464	0	0	0	1	0	102	464					A	57115222	G	A	57115222	2	1	79	1	0	0	0	0	0	0	0	1	2738	1190	42	2		2	CCBE1	18	57115222	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151170	57115222	20962026	18141	28458											
CCBE1	147372	broad.mit.edu	37	chr18	57115301	57115301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccagtgatatacttgCccaggtcagctgcattgttg	10	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115301C>T	ENST00000439986.4	-	7	726	c.689G>A	c.(688-690)gGc>gAc	p.G230D	CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	230					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATATACTTGCCCAGGTCAGC	0.577																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	ENST00000439986.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24						c.(688-690)gGc>gAc		collagen and calcium binding EGF domains 1							110	79	90					18																	57115301		2203	4300	6503	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57115301C>T	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.689G>A	18.37:g.57115301C>T	ENSP00000404464:p.Gly230Asp					CCBE1_ENST00000398179.2_Missense_Mutation_p.A6T	p.G230D	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN			7	726	-		Colorectal(73;0.175)	230					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.689G>A	CCDS32838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.90|14.90	2.672116|2.672116	0.47781|0.47781	.|.	.|.	ENSG00000183287|ENSG00000183287	ENST00000398179|ENST00000439986	T|T	0.33438|0.68479	1.41|-0.33	5.62|5.62	4.74|4.74	0.60224|0.60224	.|.	.|0.531492	.|0.21278	.|N	.|0.077192	T|T	0.67429|0.67429	0.2892|0.2892	L|L	0.57536|0.57536	1.79|1.79	0.21020|0.21020	N|N	0.999809|0.999809	P|P;P	0.40731|0.45531	0.728|0.666;0.86	B|B;P	0.41332|0.47075	0.354|0.194;0.536	T|T	0.64076|0.64076	-0.6492|-0.6492	9|10	0.87932|0.62326	D|D	0|0.03	-24.5082|-24.5082	11.0934|11.0934	0.48130|0.48130	0.0:0.9139:0.0:0.0861|0.0:0.9139:0.0:0.0861	.|.	6|230;39	Q6UXH8-2|Q6UXH8;Q6UXH8-3	.|CCBE1_HUMAN;.	T|D	6|230	ENSP00000381241:A6T|ENSP00000404464:G230D	ENSP00000381241:A6T|ENSP00000404464:G230D	A|G	-|-	1|2	0|0	CCBE1|CCBE1	55266281|55266281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	3.725000|3.725000	0.54970|0.54970	2.662000|2.662000	0.90505|0.90505	0.591000|0.591000	0.81541|0.81541	GCA|GGC		0.577	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		72	278	0	0	0	1	0	72	278					T	57115301	C	T	57115301	3	4	79	1	0	0	0	0	1	0	0	0	2738	739	26	2	551	2	CCBE1	18	57115301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79	57115301	20961947	18142	28459											
MC4R	4160	broad.mit.edu	37	chr18	58038647	58038647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagatgatctctttgaaGgttttcctcagttcttgact	7	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:58038647G>A	ENST00000299766.3	-	1	1354	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	312					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)				TCTCTTTGAAGGTTTTCCTCA	0.418																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(934-936)acC>acT		melanocortin 4 receptor							131	124	127					18																	58038647		2203	4300	6503	SO:0001819	synonymous_variant	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038647G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.936C>T	18.37:g.58038647G>A							p.T312T	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	1354	-		Colorectal(73;0.0946)	312					B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	37	c.936C>T	CCDS11976.1																																																																																				0.418	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		84	382	0	0	0	1	0	84	382					A	58038647	G	A	58038647	2	1	79	1	0	0	0	0	0	0	0	1	9407	987	35	2		2	MC4R	18	58038647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	923346	58038647	20038601	18143	28460											
CDH20	28316	broad.mit.edu	37	chr18	59217362	59217362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagctgtgatgacgaCggccacgtcatgtcctgcag	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59217362C>T	ENST00000262717.4	+	11	2198	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	CDH20_ENST00000538374.1_Silent_p.D600D|CDH20_ENST00000536675.2_Silent_p.D600D			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	600	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGATGACGACGGCCACGTCA	0.587																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(1798-1800)gaC>gaT		cadherin 20, type 2							72	52	59					18																	59217362		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59217362C>T	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.1800C>T	18.37:g.59217362C>T						CDH20_ENST00000536675.2_Silent_p.D600D|CDH20_ENST00000538374.1_Silent_p.D600D	p.D600D			Q9HBT6	CAD20_HUMAN			11	2198	+		Colorectal(73;0.186)	600			Cadherin 5.		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1800C>T	CCDS11977.1																																																																																				0.587	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		55	228	0	0	0	1	0	55	228					T	59217362	C	T	59217362	2	4	79	1	0	0	0	0	0	0	0	1	3115	535	19	1		1	CDH20	18	59217362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1178715	59217362	18859886	18144	28461											
CDH20	28316	broad.mit.edu	37	chr18	59221564	59221564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgaggccttcgacatcgCggccatgtggaacccccggg	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59221564C>T	ENST00000262717.4	+	12	2440	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V	CDH20_ENST00000538374.1_Missense_Mutation_p.A681V|CDH20_ENST00000536675.2_Missense_Mutation_p.A681V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	681					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)				TTCGACATCGCGGCCATGTGG	0.667																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(2041-2043)gCg>gTg		cadherin 20, type 2							69	74	72					18																	59221564		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221564C>T	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.2042C>T	18.37:g.59221564C>T	ENSP00000262717:p.Ala681Val					CDH20_ENST00000536675.2_Missense_Mutation_p.A681V|CDH20_ENST00000538374.1_Missense_Mutation_p.A681V	p.A681V			Q9HBT6	CAD20_HUMAN			12	2440	+		Colorectal(73;0.186)	681					Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.2042C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.085932	0.55861	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.76186	-1.0;-1.0;-1.0	5.78	5.78	0.91487	Cadherin, cytoplasmic domain (1);	0.049067	0.85682	D	0.000000	T	0.69646	0.3134	L	0.39245	1.2	0.58432	D	0.999999	B	0.28291	0.206	B	0.27380	0.079	T	0.64188	-0.6466	10	0.36615	T	0.2	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	681	Q9HBT6	CAD20_HUMAN	V	681	ENSP00000444767:A681V;ENSP00000442226:A681V;ENSP00000262717:A681V	ENSP00000262717:A681V	A	+	2	0	CDH20	57372544	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.877000	0.63086	2.894000	0.99253	0.655000	0.94253	GCG		0.667	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		140	668	0	0	0	1	0	140	668					T	59221564	C	T	59221564	3	4	79	1	0	0	0	0	1	0	0	0	3115	768	27	1	2084	1	CDH20	18	59221564	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4202	59221564	18855684	18145	28462											
RNF152	220441	broad.mit.edu	37	chr18	59483459	59483459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcggaagtgtgtggaatggCgatgacagccaggacctccg	15	9	0	1	rs561051015	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59483459C>T	ENST00000312828.3	-	2	1337	c.238G>A	c.(238-240)Gcc>Acc	p.A80T		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	80					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)				TGTGGAATGGCGATGACAGCC	0.637													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18371	0.0		0.0	False		,,,				2504	0.0					ENST00000312828.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(238-240)Gcc>Acc		ring finger protein 152							85	92	90					18																	59483459		2203	4300	6503	SO:0001583	missense	220441				apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:59483459C>T	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.238G>A	18.37:g.59483459C>T	ENSP00000316628:p.Ala80Thr						p.A80T	NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN			2	1337	-		Colorectal(73;0.186)	80					B3KV99|Q52LA4	Missense_Mutation	SNP	ENST00000312828.3	37	c.238G>A	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163620	0.57476	.	.	ENSG00000176641	ENST00000312828	D	0.83419	-1.72	4.97	4.97	0.65823	.	0.122835	0.53938	D	0.000044	T	0.69895	0.3162	N	0.12182	0.205	0.49213	D	0.999769	B	0.10296	0.003	B	0.04013	0.001	T	0.64462	-0.6402	10	0.13470	T	0.59	-3.2112	18.4187	0.90579	0.0:1.0:0.0:0.0	.	80	Q8N8N0	RN152_HUMAN	T	80	ENSP00000316628:A80T	ENSP00000316628:A80T	A	-	1	0	RNF152	57634439	0.999000	0.42202	0.997000	0.53966	0.898000	0.52572	4.107000	0.57811	2.600000	0.87896	0.655000	0.94253	GCC		0.637	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	NM_173557		49	293	0	0	0	1	0	49	293					T	59483459	C	T	59483459	3	4	79	1	0	0	0	0	1	0	0	0	13503	768	27	1	377	1	RNF152	18	59483459	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	261895	59483459	18593789	18146	28463											
KIAA1468	57614	broad.mit.edu	37	chr18	59899598	59899598	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacagtgaaaaaagcgttAtgttaatgctgggacgctgc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59899598A>G	ENST00000398130.2	+	10	1790	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.M520V|KIAA1468_ENST00000592479.1_3'UTR	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	520										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)				AAAAAGCGTTATGTTAATGCT	0.393																																						ENST00000256858.6																			0				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						c.(1558-1560)Atg>Gtg		KIAA1468							133	121	125					18																	59899598		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59899598A>G	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.1558A>G	18.37:g.59899598A>G	ENSP00000381198:p.Met520Val					KIAA1468_ENST00000592479.1_3'UTR|KIAA1468_ENST00000398130.2_Missense_Mutation_p.M520V	p.M520V			Q9P260	K1468_HUMAN			10	1806	+		Colorectal(73;0.186)	520						Missense_Mutation	SNP	ENST00000398130.2	37	c.1558A>G	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	A	2.814	-0.246424	0.05867	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.67523	-0.27;-0.27	5.57	5.57	0.84162	Armadillo-like helical (1);	0.116238	0.85682	D	0.000000	T	0.37999	0.1024	N	0.01352	-0.895	0.58432	D	0.999994	B;B;B	0.17268	0.007;0.021;0.003	B;B;B	0.10450	0.005;0.005;0.004	T	0.39860	-0.9593	9	.	.	.	-17.632	16.0172	0.80450	1.0:0.0:0.0:0.0	.	520;520;164	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	520	ENSP00000381198:M520V;ENSP00000256858:M520V	.	M	+	1	0	KIAA1468	58050578	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	6.863000	0.75489	2.239000	0.73571	0.528000	0.53228	ATG		0.393	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		53	199	0	0	0	1	0	53	199					G	59899598	A	G	59899598	3	3	79	1	0	0	0	0	1	0	0	0	8266	449	16	4	1596	4	KIAA1468	18	59899598	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	416139	59899598	18177650	18147	28464											
KIAA1468	57614	broad.mit.edu	37	chr18	59966089	59966089	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaagaccgtccaagagcctCaagggtaagacattaattct	8	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59966089C>T	ENST00000398130.2	+	28	3758	c.3526C>T	c.(3526-3528)Caa>Taa	p.Q1176*	KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.Q1210*|RP11-173A16.1_ENST00000591014.1_RNA	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1176										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)				CCAAGAGCCTCAAGGGTAAGA	0.294																																						ENST00000256858.6																			0				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						c.(3628-3630)Caa>Taa		KIAA1468							66	67	66					18																	59966089		2203	4299	6502	SO:0001587	stop_gained	57614						binding	g.chr18:59966089C>T	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.3526C>T	18.37:g.59966089C>T	ENSP00000381198:p.Gln1176*					KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.Q1176*	p.Q1210*			Q9P260	K1468_HUMAN			29	3876	+		Colorectal(73;0.186)	1176						Nonsense_Mutation	SNP	ENST00000398130.2	37	c.3628C>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	44	10.535140	0.99423	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.46	5.46	0.80206	.	0.109052	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.4767	19.6622	0.95877	0.0:1.0:0.0:0.0	.	.	.	.	X	1176;1210	.	.	Q	+	1	0	KIAA1468	58117069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.354000	0.79424	2.707000	0.92482	0.557000	0.71058	CAA		0.294	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		27	139	0	0	0	1	0	27	139					T	59966089	C	T	59966089	4	4	79	1	0	0	0	0	0	1	0	0	8266	827	29	2	3636	2	KIAA1468	18	59966089	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66491	59966089	18111159	18148	28465											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025520	60025520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgcaaaccttgccttgCaggctacttctctgatgcct	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60025520C>T	ENST00000586569.1	+	5	505	c.467C>T	c.(466-468)gCa>gTa	p.A156V	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	156					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTTGCCTTGCAGGCTACTTC	0.423																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(466-468)gCa>gTa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							150	139	142					18																	60025520		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025520C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.467C>T	18.37:g.60025520C>T	ENSP00000465500:p.Ala156Val					TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A156V	p.A156V	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			5	505	+		Colorectal(73;0.188)	156					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.467C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	3.359	-0.130838	0.06753	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.61510	0.1	5.84	-11.6	0.00059	TNFR/CD27/30/40/95 cysteine-rich region (1);	3.105210	0.00797	N	0.001399	T	0.35451	0.0932	N	0.13371	0.34	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.08055	0.002;0.003	T	0.14200	-1.0481	9	.	.	.	6.3304	13.7445	0.62868	0.0772:0.6654:0.0783:0.1791	.	178;156	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	V	178;156	ENSP00000269485:A156V	.	A	+	2	0	TNFRSF11A	58176500	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.609000	0.05635	-2.601000	0.00451	-0.484000	0.04775	GCA		0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			96	467	0	0	0	1	0	96	467					T	60025520	C	T	60025520	3	4	79	1	0	0	0	0	1	0	0	0	16336	710	25	2	485	2	TNFRSF11A	18	60025520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59431	60025520	18051728	18149	28466											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60029018	60029018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctataggaaaaaagggaaagCactcacaggtattgtgtcta	10	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60029018C>T	ENST00000586569.1	+	7	760	c.722C>T	c.(721-723)gCa>gTa	p.A241V	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	241					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AAAGGGAAAGCACTCACAGGT	0.418																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(721-723)gCa>gTa		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							155	144	148					18																	60029018		2203	4300	6503	SO:0001583	missense	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60029018C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.722C>T	18.37:g.60029018C>T	ENSP00000465500:p.Ala241Val					TNFRSF11A_ENST00000269485.7_Intron	p.A241V	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			7	760	+		Colorectal(73;0.188)	241					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.722C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109338	0.20714	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.66	2.56	0.30785	.	0.809251	0.11152	N	0.594005	T	0.33614	0.0869	L	0.53249	1.67	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.25537	-1.0129	8	.	.	.	-0.9648	4.5426	0.12066	0.1507:0.566:0.0:0.2833	.	241	Q9Y6Q6	TNR11_HUMAN	V	241	.	.	A	+	2	0	TNFRSF11A	58179998	0.004000	0.15560	0.223000	0.23860	0.756000	0.42949	0.345000	0.19979	0.677000	0.31305	-0.136000	0.14681	GCA		0.418	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			156	721	0	0	0	1	0	156	721					T	60029018	C	T	60029018	3	4	79	1	0	0	0	0	1	0	0	0	16336	710	25	2	748	2	TNFRSF11A	18	60029018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3498	60029018	18048230	18150	28467											
PHLPP1	23239	broad.mit.edu	37	chr18	60563230	60563230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaatgcctcacattaaAcatgtggatctaaggtaacc	7	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60563230A>C	ENST00000262719.5	+	6	2664	c.2430A>C	c.(2428-2430)aaA>aaC	p.K810N	PHLPP1_ENST00000400316.4_Missense_Mutation_p.K298N			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	810					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						CTCACATTAAACATGTGGATC	0.398																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(892-894)aaA>aaC		PH domain and leucine rich repeat protein phosphatase 1							63	58	60					18																	60563230		1852	4094	5946	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60563230A>C	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.2430A>C	18.37:g.60563230A>C	ENSP00000262719:p.Lys810Asn					PHLPP1_ENST00000262719.5_Missense_Mutation_p.K810N	p.K298N	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			6	2675	+			810					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.894A>C	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	A	20.0	3.931076	0.73327	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26810	1.71;1.71	5.07	1.4	0.22301	.	.	.	.	.	T	0.33962	0.0881	L	0.50993	1.605	0.46011	D	0.998815	D	0.65815	0.995	P	0.56700	0.804	T	0.07790	-1.0754	9	0.62326	D	0.03	-17.1732	9.0123	0.36148	0.5768:0.0:0.4232:0.0	.	810	O60346	PHLP1_HUMAN	N	298;810	ENSP00000383170:K298N;ENSP00000262719:K810N	ENSP00000262719:K810N	K	+	3	2	PHLPP1	58714210	0.578000	0.26717	1.000000	0.80357	0.996000	0.88848	-0.019000	0.12546	0.420000	0.25954	0.533000	0.62120	AAA		0.398	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		25	118	0	0	0	1	0	25	118					C	60563230	A	C	60563230	3	2	79	1	0	0	0	0	1	0	0	0	11896	40	2	4	2452	4	PHLPP1	18	60563230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	534212	60563230	17514018	18151	28468											
PHLPP1	23239	broad.mit.edu	37	chr18	60642662	60642662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcagaagcttggtgGtgccgctgtcctttgtcata	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60642662G>A	ENST00000262719.5	+	16	4022	c.3788G>A	c.(3787-3789)gGt>gAt	p.G1263D	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G751D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1263	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						AAGCTTGGTGGTGCCGCTGTC	0.517																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2251-2253)gGt>gAt		PH domain and leucine rich repeat protein phosphatase 1							141	137	138					18																	60642662		2041	4183	6224	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60642662G>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3788G>A	18.37:g.60642662G>A	ENSP00000262719:p.Gly1263Asp					PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1263D	p.G751D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			16	4033	+			1263					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2252G>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352950	0.82132	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.09630	2.96;2.96	5.28	5.28	0.74379	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.29716	0.0742	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00270	-1.1860	9	0.30854	T	0.27	-13.5906	19.1036	0.93283	0.0:0.0:1.0:0.0	.	1263	O60346	PHLP1_HUMAN	D	751;1263	ENSP00000383170:G751D;ENSP00000262719:G1263D	ENSP00000262719:G1263D	G	+	2	0	PHLPP1	58793642	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.244000	0.65400	2.751000	0.94390	0.555000	0.69702	GGT		0.517	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		72	420	0	0	0	1	0	72	420					A	60642662	G	A	60642662	3	1	79	1	0	0	0	0	1	0	0	0	11896	1261	44	2	3850	2	PHLPP1	18	60642662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79432	60642662	17434586	18152	28469											
PHLPP1	23239	broad.mit.edu	37	chr18	60645587	60645587	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgcccccacgtgcagtcCgtgctcctgactccccagga	9	20	0	1	rs376314377		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60645587C>T	ENST00000262719.5	+	17	4311	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S	PHLPP1_ENST00000400316.4_Silent_p.S847S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1359	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						ACGTGCAGTCCGTGCTCCTGA	0.622																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2539-2541)tcC>tcT		PH domain and leucine rich repeat protein phosphatase 1		C		0,4322		0,0,2161	38	43	41		4077	-9.5	0.1	18		41	2,8514		0,2,4256	no	coding-synonymous	PHLPP1	NM_194449.2		0,2,6417	TT,TC,CC		0.0235,0.0,0.0156		1359/1718	60645587	2,12836	2161	4258	6419	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645587C>T	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.4077C>T	18.37:g.60645587C>T						PHLPP1_ENST00000262719.5_Silent_p.S1359S	p.S847S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4322	+			1359					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.2541C>T	CCDS45881.2																																																																																				0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		18	67	0	0	0	1	0	18	67					T	60645587	C	T	60645587	2	4	79	1	0	0	0	0	0	0	0	1	11896	639	23	1		1	PHLPP1	18	60645587	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2925	60645587	17431661	18153	28470											
PHLPP1	23239	broad.mit.edu	37	chr18	60646154	60646154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaacggccttgacagtgaCgatgaggagcccatcgaggg	15	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60646154C>T	ENST00000262719.5	+	17	4878	c.4644C>T	c.(4642-4644)gaC>gaT	p.D1548D	PHLPP1_ENST00000400316.4_Silent_p.D1036D			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1548					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						TTGACAGTGACGATGAGGAGC	0.622																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(3106-3108)gaC>gaT		PH domain and leucine rich repeat protein phosphatase 1							42	44	43					18																	60646154		2102	4211	6313	SO:0001819	synonymous_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60646154C>T	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.4644C>T	18.37:g.60646154C>T						PHLPP1_ENST00000262719.5_Silent_p.D1548D	p.D1036D	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4889	+			1548					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	c.3108C>T	CCDS45881.2																																																																																				0.622	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		14	68	0	0	0	1	0	14	68					T	60646154	C	T	60646154	2	4	79	1	0	0	0	0	0	0	0	1	11896	535	19	1		1	PHLPP1	18	60646154	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	567	60646154	17431094	18154	28471											
KDSR	2531	broad.mit.edu	37	chr18	61018225	61018225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgggaggacacaaacaCgatcctgcccacccggcgct	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61018225C>T	ENST00000406396.3	-	6	896	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	169					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GACACAAACACGATCCTGCCC	0.547																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(505-507)Gtg>Atg		3-ketodihydrosphingosine reductase							114	108	110					18																	61018225		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61018225C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	4021	protein-coding gene	gene with protein product	"3-dehydrosphinganine reductase", "short chain dehydrogenase/reductase family 35C, member 1"	136440	"follicular lymphoma variant translocation 1"	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.505G>A	18.37:g.61018225C>T	ENSP00000385083:p.Val169Met					KDSR_ENST00000326575.5_Intron	p.V169M	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			6	896	-			169					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.505G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.489014	0.64074	.	.	ENSG00000119537	ENST00000406396	D	0.92149	-2.98	5.95	5.95	0.96441	NAD(P)-binding domain (1);	0.093753	0.64402	D	0.000001	D	0.92825	0.7718	M	0.88842	2.985	0.80722	D	1	P	0.45396	0.857	B	0.34138	0.176	D	0.93825	0.7122	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	169	Q06136	KDSR_HUMAN	M	169	ENSP00000385083:V169M	ENSP00000385083:V169M	V	-	1	0	KDSR	59169205	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	3.970000	0.56824	2.824000	0.97209	0.655000	0.94253	GTG		0.547	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			104	511	0	0	0	1	0	104	511					T	61018225	C	T	61018225	3	4	79	1	0	0	0	0	1	0	0	0	8170	536	19	1	513	1	KDSR	18	61018225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	372071	61018225	17059023	18155	28472											
VPS4B	9525	broad.mit.edu	37	chr18	61058275	61058275	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtcatgttcattgactgtaGgttttgtgttagatagtgac	11	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61058275G>T	ENST00000238497.5	-	11	1471	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	423					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						ATTGACTGTAGGTTTTGTGTT	0.353																																						ENST00000238497.5																			0				breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1267-1269)cCt>cAt		vacuolar protein sorting 4 homolog B (S. cerevisiae)							128	119	122					18																	61058275		2203	4300	6503	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61058275G>T	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.1268C>A	18.37:g.61058275G>T	ENSP00000238497:p.Pro423His						p.P423H	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN			11	1471	-			423					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.1268C>A	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007448	0.93287	.	.	ENSG00000119541	ENST00000238497	D	0.95377	-3.69	5.78	5.78	0.91487	Vps4 oligomerisation, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	-6.5659	20.0203	0.97492	0.0:0.0:1.0:0.0	.	423	O75351	VPS4B_HUMAN	H	423	ENSP00000238497:P423H	ENSP00000238497:P423H	P	-	2	0	VPS4B	59209255	1.000000	0.71417	0.972000	0.41901	0.989000	0.77384	9.835000	0.99442	2.730000	0.93505	0.655000	0.94253	CCT		0.353	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		34	166	1	0	2.5098e-30	1	2.94304e-30	34	166					T	61058275	G	T	61058275	3	4	79	1	0	0	0	0	1	0	0	0	17267	1000	35	3	70	3	VPS4B	18	61058275	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40050	61058275	17018973	18156	28473											
SERPINB5	5268	broad.mit.edu	37	chr18	61154290	61154290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactaatcaagcggctctacGtagacaaatctctgaatctt	6	10	4	2	rs377697959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61154290G>A	ENST00000382771.4	+	3	572	c.280G>A	c.(280-282)Gta>Ata	p.V94I	SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I|RP11-635N19.3_ENST00000602456.1_RNA	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	94					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GCGGCTCTACGTAGACAAATC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		21211	0.0		0.001	False		,,,				2504	0.0					ENST00000382771.4																			0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(280-282)Gta>Ata		serpin peptidase inhibitor, clade B (ovalbumin), member 5		G	ILE/VAL	0,4406		0,0,2203	83	81	82		280	-0.2	0	18		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB5	NM_002639.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	94/376	61154290	1,13005	2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61154290G>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.280G>A	18.37:g.61154290G>A	ENSP00000372221:p.Val94Ile					SERPINB5_ENST00000489441.1_Missense_Mutation_p.V94I	p.V94I	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN			3	572	+			94					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.280G>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	0.164	-1.078385	0.01903	0.0	1.16E-4	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84516	-1.86;-1.86	5.12	-0.218	0.13142	Serpin domain (3);	0.554792	0.16710	N	0.202711	T	0.72779	0.3503	N	0.25647	0.755	0.09310	N	1	B;B	0.18968	0.002;0.032	B;B	0.12156	0.002;0.007	T	0.62115	-0.6922	10	0.56958	D	0.05	.	7.6841	0.28530	0.2986:0.0:0.5894:0.112	.	94;94	P36952;P36952-2	SPB5_HUMAN;.	I	94	ENSP00000372221:V94I;ENSP00000408821:V94I	ENSP00000372221:V94I	V	+	1	0	SERPINB5	59305270	0.264000	0.24093	0.047000	0.18901	0.902000	0.53008	0.384000	0.20668	0.016000	0.14998	-0.813000	0.03139	GTA		0.353	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		8	337	0	0	0	1	0	8	337					A	61154290	G	A	61154290	3	1	79	1	0	0	0	0	1	0	0	0	14154	1145	40	1	286	1	SERPINB5	18	61154290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96015	61154290	16922958	18157	28474											
SERPINB12	89777	broad.mit.edu	37	chr18	61231236	61231236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcaaggaactcttcagcaaGgacgctattaatgctgagac	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61231236G>T	ENST00000269491.1	+	5	528	c.528G>T	c.(526-528)aaG>aaT	p.K176N	SERPINB12_ENST00000382768.1_Missense_Mutation_p.K196N	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	176					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						TCTTCAGCAAGGACGCTATTA	0.368																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(586-588)aaG>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 12							186	164	171					18																	61231236		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61231236G>T	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.528G>T	18.37:g.61231236G>T	ENSP00000269491:p.Lys176Asn					SERPINB12_ENST00000269491.1_Missense_Mutation_p.K176N	p.K196N			Q96P63	SPB12_HUMAN			5	588	+			176					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.588G>T	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894220	0.52121	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84873	-1.91;-1.91	5.57	2.78	0.32641	Serpin domain (3);	0.358223	0.27035	N	0.021254	D	0.82444	0.5038	L	0.53729	1.69	0.24583	N	0.993861	B;P	0.40578	0.324;0.722	B;P	0.46172	0.31;0.506	T	0.71178	-0.4669	10	0.30854	T	0.27	.	7.3732	0.26813	0.4014:0.0:0.5986:0.0	.	196;176	Q3SYB4;Q96P63	.;SPB12_HUMAN	N	176;196	ENSP00000269491:K176N;ENSP00000372218:K196N	ENSP00000269491:K176N	K	+	3	2	SERPINB12	59382216	0.000000	0.05858	0.945000	0.38365	0.902000	0.53008	-0.617000	0.05584	0.834000	0.34852	0.655000	0.94253	AAG		0.368	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		94	462	1	0	3.10062e-51	1	3.84706e-51	94	462					T	61231236	G	T	61231236	3	4	79	1	0	0	0	0	1	0	0	0	14149	991	35	3	546	3	SERPINB12	18	61231236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76946	61231236	16846012	18158	28475											
SERPINB13	5275	broad.mit.edu	37	chr18	61261692	61261692	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatgggacagggagtttaaGaaagaaaatactaaggaaga	12	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61261692G>T	ENST00000344731.5	+	6	678	c.576G>T	c.(574-576)aaG>aaT	p.K192N	SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	192					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						GGGAGTTTAAGAAAGAAAATA	0.378																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(574-576)aaG>aaT		serpin peptidase inhibitor, clade B (ovalbumin), member 13							93	90	91					18																	61261692		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61261692G>T	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.576G>T	18.37:g.61261692G>T	ENSP00000341584:p.Lys192Asn					SERPINB13_ENST00000269489.5_Missense_Mutation_p.K192N	p.K192N	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			6	678	+			192					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.576G>T	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451689	0.26074	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.83992	-1.79;-1.56	5.73	0.181	0.15073	Serpin domain (3);	0.108239	0.41294	N	0.000918	T	0.77618	0.4157	N	0.26042	0.785	0.32915	D	0.515049	P;B;D	0.89917	0.685;0.011;1.0	B;B;D	0.87578	0.381;0.015;0.998	T	0.74990	-0.3475	10	0.06099	T	0.92	.	4.2783	0.10820	0.2794:0.0:0.2086:0.512	.	201;110;192	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	N	192;110;192	ENSP00000269489:K192N;ENSP00000341584:K192N	ENSP00000269489:K192N	K	+	3	2	SERPINB13	59412672	0.000000	0.05858	0.998000	0.56505	0.995000	0.86356	-0.849000	0.04322	0.135000	0.18707	0.655000	0.94253	AAG		0.378	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		53	319	1	0	2.81731e-22	1	3.18527e-22	53	319					T	61261692	G	T	61261692	3	4	79	1	0	0	0	0	1	0	0	0	14150	933	33	3	594	3	SERPINB13	18	61261692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30456	61261692	16815556	18159	28476											
SERPINB4	6318	broad.mit.edu	37	chr18	61305075	61305075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagatgataattcgactaCtactacagcggtggcagctg	12	8	0	2	rs386804122		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61305075C>T	ENST00000341074.5	-	8	1166	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	351					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						AATTCGACTACTACTACAGCG	0.463																																						ENST00000341074.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1051-1053)Gta>Ata		serpin peptidase inhibitor, clade B (ovalbumin), member 4							117	112	114					18																	61305075		2203	4300	6503	SO:0001583	missense	6318							g.chr18:61305075C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1051G>A	18.37:g.61305075C>T	ENSP00000343445:p.Val351Ile					SERPINB4_ENST00000356424.6_Missense_Mutation_p.V299I	p.V351I	NM_002974.2	NP_002965.1					8	1166	-								A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.1051G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	c	4.557	0.103374	0.08731	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.82081	-1.57;-1.57	4.25	-8.49	0.00931	Serpin domain (3);	4.508830	0.01035	N	0.004211	T	0.57403	0.2051	N	0.04387	-0.21	0.09310	N	1	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.15484	0.013;0.013;0.013	T	0.61004	-0.7150	10	0.05351	T	0.99	.	7.6912	0.28569	0.0897:0.6499:0.0898:0.1706	.	351;351;330	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	I	351;299	ENSP00000343445:V351I;ENSP00000348795:V299I	ENSP00000343445:V351I	V	-	1	0	SERPINB4	59456055	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.282000	0.00260	-2.173000	0.00773	-1.275000	0.01399	GTA		0.463	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		88	452	0	0	0	1	0	88	452					T	61305075	C	T	61305075	3	4	79	1	0	0	0	0	1	0	0	0	14153	565	20	2	125	2	SERPINB4	18	61305075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43383	61305075	16772173	18160	28477											
SERPINB11	89778	broad.mit.edu	37	chr18	61377552	61377552	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttatgctctaagcatggTcctccttggtgccaggggag	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61377552T>C	ENST00000382749.5	+	0	370				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_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)				CTAAGCATGGTCCTCCTTGGT	0.448																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)							118	109	112					18																	61377552		1900	4130	6030			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61377552T>C			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.61377552T>C						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	187	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37			.	.	.	.	.	.	.	.	.	.	T	16.69	3.193059	0.58017	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.83335	-1.71;-1.71	5.14	5.14	0.70334	Serpin domain (3);	1.020130	0.07854	N	0.965175	T	0.82121	0.4968	L	0.39085	1.19	0.80722	D	1	D;P	0.57257	0.979;0.517	P;B	0.47402	0.546;0.253	T	0.77078	-0.2721	10	0.72032	D	0.01	.	13.1919	0.59715	0.0:0.0:0.0:1.0	.	42;42	F5GY69;Q96P15	.;SPB11_HUMAN	A	42	ENSP00000441497:V42A;ENSP00000440795:V42A	ENSP00000421854:V42A	V	+	2	0	SERPINB11	59528532	0.920000	0.31207	0.977000	0.42913	0.928000	0.56348	5.259000	0.65485	2.051000	0.60960	0.533000	0.62120	GTC		0.448	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		47	207	0	0	0	1	0	47	207					C	61377552	T	C	61377552	1	2	79	0	1	0	0	0	0	0	0	0	14148	1667	58	4		4	SERPINB11	18	61377552	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72477	61377552	16699696	18161	28478											
SERPINB7	8710	broad.mit.edu	37	chr18	61468118	61468118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctctgggaaggcagtcGccatgatgcatcaggaacgg	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61468118G>A	ENST00000398019.2	+	7	941	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	206					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAGGCAGTCGCCATGATGCA	0.368																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(616-618)Gcc>Acc		serpin peptidase inhibitor, clade B (ovalbumin), member 7							162	144	150					18																	61468118		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61468118G>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"Serine (or cysteine) peptidase inhibitors"	13902	protein-coding gene	gene with protein product		603357	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.616G>A	18.37:g.61468118G>A	ENSP00000381101:p.Ala206Thr					SERPINB7_ENST00000546027.1_Missense_Mutation_p.A206T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A206T|SERPINB7_ENST00000540675.1_Missense_Mutation_p.A189T	p.A206T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			7	941	+		Esophageal squamous(42;0.129)	206					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.616G>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064020	0.36373	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.1	-9.16	0.00694	Serpin domain (3);	1.594020	0.03372	N	0.199196	T	0.07954	0.0199	L	0.49513	1.565	0.09310	N	1	B;B	0.22346	0.003;0.068	B;B	0.15484	0.005;0.013	T	0.34800	-0.9814	10	0.72032	D	0.01	.	1.1245	0.01732	0.3147:0.3374:0.1226:0.2253	.	189;206	F5GZC0;O75635	.;SPB7_HUMAN	T	206;206;189;206	ENSP00000337212:A206T;ENSP00000381101:A206T;ENSP00000444572:A189T;ENSP00000444861:A206T	ENSP00000337212:A206T	A	+	1	0	SERPINB7	59619098	0.000000	0.05858	0.001000	0.08648	0.847000	0.48162	-0.302000	0.08221	-1.427000	0.01992	0.650000	0.86243	GCC		0.368	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		62	527	0	0	0	1	0	62	527					A	61468118	G	A	61468118	3	1	79	1	0	0	0	0	1	0	0	0	14156	1087	38	1	638	1	SERPINB7	18	61468118	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90566	61468118	16609130	18162	28479											
SERPINB2	5055	broad.mit.edu	37	chr18	61564441	61564441	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtttggtgagaagtctgcGagcttccgggaagtaagtga	15	6	1	2	rs140108044	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61564441G>A	ENST00000299502.4	+	4	485	c.405G>A	c.(403-405)gcG>gcA	p.A135A	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Silent_p.A135A	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	135					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)	AGAAGTCTGCGAGCTTCCGGG	0.413																																						ENST00000457692.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(403-405)gcG>gcA		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	G	,	2,4404	4.2+/-10.8	0,2,2201	107	108	108		405,405	-10.4	0	18	dbSNP_134	108	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous	SERPINB2	NM_001143818.1,NM_002575.2	,	0,13,6490	AA,AG,GG		0.1279,0.0454,0.1	,	135/416,135/416	61564441	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61564441G>A	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.405G>A	18.37:g.61564441G>A						SERPINB2_ENST00000299502.4_Silent_p.A135A|SERPINB2_ENST00000482254.1_3'UTR	p.A135A	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			5	738	+		Esophageal squamous(42;0.131)	135					Q96E96	Silent	SNP	ENST00000299502.4	37	c.405G>A	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	9.549	1.115323	0.20795	4.54E-4	0.001279	ENSG00000242550	ENST00000397996;ENST00000418725	.	.	.	5.93	-10.4	0.00318	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.16541	-1.0399	4	.	.	.	.	6.6103	0.22747	0.1647:0.2401:0.5096:0.0857	.	.	.	.	K	12	.	.	E	+	1	0	SERPINB10	59715421	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-4.049000	0.00305	-1.747000	0.01333	-0.290000	0.09829	GAG		0.413	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		13	387	0	0	0	1	0	13	387					A	61564441	G	A	61564441	2	1	79	1	0	0	0	0	0	0	0	1	14151	1045	37	1		1	SERPINB2	18	61564441	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96323	61564441	16512807	18163	28480											
SERPINB10	5273	broad.mit.edu	37	chr18	61600360	61600360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagaaaagccaaaagcagtgGgccttcaactctactacaaa	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61600360G>T	ENST00000238508.3	+	7	771	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	238					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)				AAAAGCAGTGGGCCTTCAACT	0.378																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(712-714)Ggc>Tgc		serpin peptidase inhibitor, clade B (ovalbumin), member 10							118	129	125					18																	61600360		2203	4300	6503	SO:0001583	missense	5273							g.chr18:61600360G>T	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.712G>T	18.37:g.61600360G>T	ENSP00000238508:p.Gly238Cys						p.G238C	NM_005024.1	NP_005015.1					7	771	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.712G>T	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520658	0.27211	.	.	ENSG00000242550	ENST00000238508	D	0.82619	-1.63	5.95	4.17	0.49024	Serpin domain (3);	0.332680	0.32703	N	0.005745	D	0.86456	0.5937	L	0.56124	1.755	0.09310	N	0.999995	D	0.76494	0.999	D	0.66716	0.946	T	0.77755	-0.2469	10	0.87932	D	0	.	8.3816	0.32474	0.285:0.0:0.715:0.0	.	238	P48595	SPB10_HUMAN	C	238	ENSP00000238508:G238C	ENSP00000238508:G238C	G	+	1	0	SERPINB10	59751340	0.124000	0.22315	0.240000	0.24138	0.009000	0.06853	1.407000	0.34657	1.539000	0.49286	-0.136000	0.14681	GGC		0.378	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		127	419	1	0	1.05862e-61	1	1.33344e-61	127	419					T	61600360	G	T	61600360	3	4	79	1	0	0	0	0	1	0	0	0	14147	1232	43	3	734	3	SERPINB10	18	61600360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35919	61600360	16476888	18164	28481											
SERPINB8	5271	broad.mit.edu	37	chr18	61650907	61650907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagggaaagtggaatgaGcaatttgacagaaagtacac	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61650907G>A	ENST00000397985.2	+	5	775	c.519G>A	c.(517-519)gaG>gaA	p.E173E	SERPINB8_ENST00000397988.3_Silent_p.E173E|SERPINB8_ENST00000353706.2_Silent_p.E173E|SERPINB8_ENST00000542677.1_5'UTR	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	173					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGTGGAATGAGCAATTTGACA	0.393																																						ENST00000397985.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17						c.(517-519)gaG>gaA		serpin peptidase inhibitor, clade B (ovalbumin), member 8							125	119	121					18																	61650907		2203	4300	6503	SO:0001819	synonymous_variant	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61650907G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"Serine (or cysteine) peptidase inhibitors"	8952	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase 2"	601697	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.519G>A	18.37:g.61650907G>A						SERPINB8_ENST00000353706.2_Silent_p.E173E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Silent_p.E173E	p.E173E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN			5	775	+		Esophageal squamous(42;0.129)	173					B4DTW2|Q7Z2V6|Q8N178	Silent	SNP	ENST00000397985.2	37	c.519G>A	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	3.149	-0.174580	0.06421	.	.	ENSG00000166401	ENST00000295211	.	.	.	5.65	-4.13	0.03904	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.28004	-1.0057	4	.	.	.	.	3.1715	0.06554	0.4879:0.0866:0.2433:0.1823	.	.	.	.	N	115	.	.	S	+	2	0	SERPINB8	59801887	0.000000	0.05858	0.012000	0.15200	0.538000	0.34931	-2.035000	0.01423	-0.698000	0.05085	-0.137000	0.14449	AGC		0.393	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		88	404	0	0	0	1	0	88	404					A	61650907	G	A	61650907	2	1	79	1	0	0	0	0	0	0	0	1	14157	962	34	2		2	SERPINB8	18	61650907	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50547	61650907	16426341	18165	28482											
CDH7	1005	broad.mit.edu	37	chr18	63547943	63547943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgatgttgatcctggtgCtcctccttatgactccctgc	9	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:63547943C>T	ENST00000397968.2	+	12	2597	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	724					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)				GATCCTGGTGCTCCTCCTTAT	0.418																																						ENST00000397968.2																			0				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						c.(2170-2172)gCt>gTt		cadherin 7, type 2							117	126	123					18																	63547943		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547943C>T	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.2171C>T	18.37:g.63547943C>T	ENSP00000381058:p.Ala724Val					CDH7_ENST00000323011.3_Missense_Mutation_p.A724V	p.A724V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN			12	2597	+		Esophageal squamous(42;0.129)	724					Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2171C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886486	0.33348	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.78003	-1.14;-1.14	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	N	0.25245	0.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79181	-0.1909	10	0.27785	T	0.31	.	19.1123	0.93321	0.0:1.0:0.0:0.0	.	724	Q9ULB5	CADH7_HUMAN	V	724	ENSP00000319166:A724V;ENSP00000381058:A724V	ENSP00000319166:A724V	A	+	2	0	CDH7	61698923	1.000000	0.71417	0.103000	0.21229	0.029000	0.11900	7.818000	0.86416	2.515000	0.84797	0.655000	0.94253	GCT		0.418	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		135	582	0	0	0	1	0	135	582					T	63547943	C	T	63547943	3	4	79	1	0	0	0	0	1	0	0	0	3124	797	28	2	2213	2	CDH7	18	63547943	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1897036	63547943	14529305	18166	28483											
CDH19	28513	broad.mit.edu	37	chr18	64172320	64172320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacttgcaaagactgcCtgtataggctcctgatctca	9	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:64172320C>T	ENST00000262150.2	-	12	2340	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	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)				CAAAGACTGCCTGTATAGGCT	0.483																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(2047-2049)aGg>aAg		cadherin 19, type 2							165	158	160					18																	64172320		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172320C>T	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.2048G>A	18.37:g.64172320C>T	ENSP00000262150:p.Arg683Lys					CDH19_ENST00000540086.1_3'UTR	p.R683K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			12	2340	-		Esophageal squamous(42;0.0132)	683					O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.2048G>A	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947956	0.73787	.	.	ENSG00000071991	ENST00000262150	T	0.76448	-1.02	5.19	5.19	0.71726	Cadherin, cytoplasmic domain (1);	0.094394	0.64402	D	0.000001	D	0.85044	0.5607	M	0.63428	1.95	0.28559	N	0.911229	D	0.76494	0.999	D	0.74023	0.982	T	0.80106	-0.1521	10	0.66056	D	0.02	.	12.45	0.55671	0.0:0.9229:0.0:0.0771	.	683	Q9H159	CAD19_HUMAN	K	683	ENSP00000262150:R683K	ENSP00000262150:R683K	R	-	2	0	CDH19	62323300	0.002000	0.14202	0.889000	0.34880	0.727000	0.41649	1.519000	0.35888	2.569000	0.86673	0.655000	0.94253	AGG		0.483	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		166	784	0	0	0	1	0	166	784					T	64172320	C	T	64172320	3	4	79	1	0	0	0	0	1	0	0	0	3113	681	24	2	274	2	CDH19	18	64172320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	624377	64172320	13904928	18167	28484											
DSEL	92126	broad.mit.edu	37	chr18	65178608	65178608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcctcaatggttcatactCgaaagcataacccgaattta	5	10	2	0	rs369391532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178608C>T	ENST00000310045.7	-	2	4741	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	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	1080			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)				GGTTCATACTCGAAAGCATAA	0.363																																						ENST00000310045.7																			0				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						c.(3268-3270)Gag>Aag		dermatan sulfate epimerase-like		C	LYS/GLU	0,4406		0,0,2203	69	66	67		3268	4.8	0.7	18		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	DSEL	NM_032160.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1090/1223	65178608	1,13005	2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178608C>T	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.3268G>A	18.37:g.65178608C>T	ENSP00000310565:p.Glu1090Lys					CTD-2541J13.2_ENST00000583493.1_RNA	p.E1090K	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4741	-		Esophageal squamous(42;0.129)	1080		K -> E (in a colorectal cancer sample; somatic mutation).			Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3268G>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495674	0.64186	0.0	1.16E-4	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25414	1.8	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.467156	0.19485	U	0.113125	T	0.45875	0.1364	M	0.68952	2.095	0.50813	D	0.99989	D	0.63880	0.993	P	0.56474	0.799	T	0.48768	-0.9006	10	0.66056	D	0.02	-16.9802	18.2029	0.89844	0.0:1.0:0.0:0.0	.	1080	Q8IZU8	DSEL_HUMAN	K	1090;1080	ENSP00000310565:E1090K	ENSP00000310565:E1090K	E	-	1	0	DSEL	63329588	1.000000	0.71417	0.725000	0.30721	0.448000	0.32197	5.870000	0.69620	2.356000	0.79943	0.563000	0.77884	GAG		0.363	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		41	218	0	0	0	1	0	41	218					T	65178608	C	T	65178608	3	4	79	1	0	0	0	0	1	0	0	0	4791	893	31	1	404	1	DSEL	18	65178608	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1006288	65178608	12898640	18168	28485											
DSEL	92126	broad.mit.edu	37	chr18	65178816	65178816	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaaaatgaagctttaaCgtccagcttccactgcttaa	6	9	0	2	rs139752903	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178816C>A	ENST00000310045.7	-	2	4533	c.3060G>T	c.(3058-3060)acG>acT	p.T1020T	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	1010					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)				GAAGCTTTAACGTCCAGCTTC	0.418																																						ENST00000310045.7																			0				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						c.(3058-3060)acG>acT		dermatan sulfate epimerase-like							78	82	80					18																	65178816		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178816C>A	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.3060G>T	18.37:g.65178816C>A						CTD-2541J13.2_ENST00000583493.1_RNA	p.T1020T	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4533	-		Esophageal squamous(42;0.129)	1010					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.3060G>T	CCDS11995.1																																																																																				0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		104	416	1	0	1.07597e-44	1	1.31721e-44	104	416					A	65178816	C	A	65178816	2	1	79	1	0	0	0	0	0	0	0	1	4791	523	19	3		3	DSEL	18	65178816	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	65178816	12898432	18169	28486											
DSEL	92126	broad.mit.edu	37	chr18	65178934	65178934	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggcgcctttcatttgacttCtttgttctggcaaagactct	8	10	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178934C>A	ENST00000310045.7	-	2	4415	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	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	971					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)				CATTTGACTTCTTTGTTCTGG	0.398																																						ENST00000310045.7																			0				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						c.(2941-2943)aGa>aTa		dermatan sulfate epimerase-like							47	53	51					18																	65178934		2191	4299	6490	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178934C>A	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.2942G>T	18.37:g.65178934C>A	ENSP00000310565:p.Arg981Ile					CTD-2541J13.2_ENST00000583493.1_RNA	p.R981I	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4415	-		Esophageal squamous(42;0.129)	971					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2942G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591988	0.46214	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20463	2.07	5.17	4.29	0.51040	Sulfotransferase domain (1);	0.078108	0.50627	U	0.000120	T	0.32102	0.0818	L	0.44542	1.39	0.54753	D	0.999988	D	0.58970	0.984	P	0.60541	0.876	T	0.02567	-1.1140	10	0.87932	D	0	-17.4992	10.2898	0.43588	0.0:0.848:0.0:0.152	.	971	Q8IZU8	DSEL_HUMAN	I	981;971	ENSP00000310565:R981I	ENSP00000310565:R981I	R	-	2	0	DSEL	63329914	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.523000	0.35932	2.403000	0.81681	0.563000	0.77884	AGA		0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		47	374	1	0	1.7489e-18	1	1.94175e-18	47	374					A	65178934	C	A	65178934	3	1	79	1	0	0	0	0	1	0	0	0	4791	913	32	3	730	3	DSEL	18	65178934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118	65178934	12898314	18170	28487											
RTTN	25914	broad.mit.edu	37	chr18	67855345	67855345	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacattgattcttaccAtatctataccaaaaaggctg	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	ENST00000255674.6	-	10	1590	c.1304T>C	c.(1303-1305)aTg>aCg	p.M435T	RTTN_ENST00000437017.1_Splice_Site_p.M435T|RTTN_ENST00000454359.1_Splice_Site_p.M435T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	435					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)				GATTCTTACCATATCTATACC	0.333																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.e10+1		rotatin							98	88	91					18																	67855345		1816	4077	5893	SO:0001630	splice_region_variant	25914						binding	g.chr18:67855345A>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1305+1T>C	18.37:g.67855345A>G						RTTN_ENST00000454359.1_Splice_Site_p.M435_splice|RTTN_ENST00000437017.1_Splice_Site_p.M435_splice	p.M435_splice	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			10	1590	-		Esophageal squamous(42;0.129)	435					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	SNP	ENST00000255674.6	37	c.1305_splice	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927553	0.34002	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64085	0.67;-0.08;-0.08	5.53	5.53	0.82687	Armadillo-type fold (1);	0.125811	0.56097	D	0.000035	T	0.55305	0.1912	L	0.44542	1.39	0.33720	D	0.616864	B;B	0.31817	0.152;0.341	B;B	0.27076	0.023;0.076	T	0.69109	-0.5232	10	0.72032	D	0.01	.	15.6644	0.77217	1.0:0.0:0.0:0.0	.	435;435	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	T	435	ENSP00000255674:M435T;ENSP00000402352:M435T;ENSP00000399520:M435T	ENSP00000255674:M435T	M	-	2	0	RTTN	66006325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.815000	0.86186	2.101000	0.63845	0.533000	0.62120	ATG		0.333	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630	Missense_Mutation	35	135	0	0	0	1	0	35	135					G	67855345	A	G	67855345	5	3	79	1	0	0	0	0	0	0	1	0	13787	231	8	4	5536	4	RTTN	18	67855345	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2676411	67855345	10221903	18171	28488											
RTTN	25914	broad.mit.edu	37	chr18	67863822	67863822	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgcaggcaggacacCgactgtaatgccaggcgatg	14	11	0	0	rs183715905		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67863822C>T	ENST00000255674.6	-	7	1042	c.756G>A	c.(754-756)tcG>tcA	p.S252S	RTTN_ENST00000437017.1_Silent_p.S252S|RTTN_ENST00000454359.1_Silent_p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	252					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)				GGCAGGACACCGACTGTAATG	0.418													T|||	1	0.000199681	0.0	0.0	5008	,	,		18996	0.001		0.0	False		,,,				2504	0.0					ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(754-756)tcG>tcA		rotatin		T		1,3775		0,1,1887	83	81	82		756	-6	0.8	18		82	0,8244		0,0,4122	no	coding-synonymous	RTTN	NM_173630.3		0,1,6009	TT,TC,CC		0.0,0.0265,0.0083		252/2227	67863822	1,12019	1888	4122	6010	SO:0001819	synonymous_variant	25914						binding	g.chr18:67863822C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.756G>A	18.37:g.67863822C>T						RTTN_ENST00000454359.1_Silent_p.S252S|RTTN_ENST00000437017.1_Silent_p.S252S	p.S252S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			7	1042	-		Esophageal squamous(42;0.129)	252					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.756G>A	CCDS42443.1																																																																																				0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		45	262	0	0	0	1	0	45	262					T	67863822	C	T	67863822	2	4	79	1	0	0	0	0	0	0	0	1	13787	639	23	1		1	RTTN	18	67863822	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8477	67863822	10213426	18172	28489											
SOCS6	9306	broad.mit.edu	37	chr18	67992860	67992860	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attgctacctccaatgcagaAtaatcaaatccaaaggaact	5	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67992860A>C	ENST00000397942.3	+	2	1272	c.956A>C	c.(955-957)aAt>aCt	p.N319T	SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	319					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)				CCAATGCAGAATAATCAAATC	0.502																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(955-957)aAt>aCt		suppressor of cytokine signaling 6							77	73	75					18																	67992860		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992860A>C	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.956A>C	18.37:g.67992860A>C	ENSP00000381034:p.Asn319Thr					SOCS6_ENST00000582322.1_Missense_Mutation_p.N319T	p.N319T	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1272	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	319					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.956A>C	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	8.832	0.940237	0.18281	.	.	ENSG00000170677	ENST00000397942	T	0.26223	1.75	5.08	1.63	0.23807	.	0.292022	0.31177	N	0.008102	T	0.10937	0.0267	N	0.11560	0.145	0.34538	D	0.709975	B	0.02656	0.0	B	0.04013	0.001	T	0.18681	-1.0329	10	0.25106	T	0.35	-6.9417	5.9643	0.19316	0.6703:0.169:0.1607:0.0	.	319	O14544	SOCS6_HUMAN	T	319	ENSP00000381034:N319T	ENSP00000381034:N319T	N	+	2	0	SOCS6	66143840	0.982000	0.34865	0.169000	0.22859	0.978000	0.69477	1.537000	0.36083	0.057000	0.16193	0.459000	0.35465	AAT		0.502	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			72	315	0	0	0	1	0	72	315					C	67992860	A	C	67992860	3	2	79	1	0	0	0	0	1	0	0	0	14968	101	4	4	958	4	SOCS6	18	67992860	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	129038	67992860	10084388	18173	28490											
NETO1	81832	broad.mit.edu	37	chr18	70417299	70417299	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatctattgatactgaccgCtggacggctttatcgtgtct	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417299C>A	ENST00000327305.6	-	9	2196	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	513					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)		ATACTGACCGCTGGACGGCTT	0.433																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1537-1539)caG>caT		neuropilin (NRP) and tolloid (TLL)-like 1							79	70	73					18																	70417299		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417299C>A	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.1539G>T	18.37:g.70417299C>A	ENSP00000313088:p.Gln513His					NETO1_ENST00000299430.2_Missense_Mutation_p.Q512H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q513H	p.Q513H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	2196	-		Esophageal squamous(42;0.129)	513					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1539G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436457	0.83885	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.24723	1.84;1.85	5.76	5.76	0.90799	.	0.000000	0.56097	D	0.000023	T	0.45236	0.1332	L	0.41236	1.265	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.78314	0.991;0.979	T	0.11966	-1.0566	10	0.44086	T	0.13	-8.9025	19.973	0.97292	0.0:1.0:0.0:0.0	.	512;513	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	513;512	ENSP00000313088:Q513H;ENSP00000299430:Q512H	ENSP00000299430:Q512H	Q	-	3	2	NETO1	68568279	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.452000	0.80683	2.725000	0.93324	0.460000	0.39030	CAG		0.433	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		54	225	1	0	9.53978e-28	1	1.10624e-27	54	225					A	70417299	C	A	70417299	3	1	79	1	0	0	0	0	1	0	0	0	10381	796	28	3	70	3	NETO1	18	70417299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2424439	70417299	7659949	18174	28491											
NETO1	81832	broad.mit.edu	37	chr18	70417673	70417673	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taactcataatgaggaggttCaaatacctcctggaaaactg	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417673C>T	ENST00000327305.6	-	9	1822	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NETO1_ENST00000299430.2_Missense_Mutation_p.E388K|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.E389K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	389					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)		TGAGGAGGTTCAAATACCTCC	0.428																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1165-1167)Gaa>Aaa		neuropilin (NRP) and tolloid (TLL)-like 1							88	82	84					18																	70417673		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417673C>T	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.1165G>A	18.37:g.70417673C>T	ENSP00000313088:p.Glu389Lys					NETO1_ENST00000299430.2_Missense_Mutation_p.E388K|NETO1_ENST00000583169.1_Missense_Mutation_p.E389K	p.E389K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1822	-		Esophageal squamous(42;0.129)	389					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1165G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408397	0.96051	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.44881	0.91;0.91	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000011	T	0.63105	0.2483	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.986	D;P	0.76071	0.987;0.867	T	0.65043	-0.6264	10	0.72032	D	0.01	-21.3855	19.1774	0.93607	0.0:1.0:0.0:0.0	.	388;389	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	389;388	ENSP00000313088:E389K;ENSP00000299430:E388K	ENSP00000299430:E388K	E	-	1	0	NETO1	68568653	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.442000	0.80503	2.594000	0.87642	0.455000	0.32223	GAA		0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		66	291	0	0	0	1	0	66	291					T	70417673	C	T	70417673	3	4	79	1	0	0	0	0	1	0	0	0	10381	835	29	2	444	2	NETO1	18	70417673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	374	70417673	7659575	18175	28492											
NETO1	81832	broad.mit.edu	37	chr18	70461420	70461420	+	Missense_Mutation	SNP	C	C	T													gctagcagtagctttgccttCcttcataatttgtatagact							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461420C>T	ENST00000327305.6	-	6	1228	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NETO1_ENST00000299430.2_Missense_Mutation_p.E190K|NETO1_ENST00000583169.1_Missense_Mutation_p.E191K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	191	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)		GCTTTGCCTTCCTTCATAATT	0.458																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(571-573)Gaa>Aaa		neuropilin (NRP) and tolloid (TLL)-like 1							159	141	147					18																	70461420		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461420C>T	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.571G>A	18.37:g.70461420C>T	ENSP00000313088:p.Glu191Lys					NETO1_ENST00000299430.2_Missense_Mutation_p.E190K|NETO1_ENST00000583169.1_Missense_Mutation_p.E191K	p.E191K	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1228	-		Esophageal squamous(42;0.129)	191			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.571G>A	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093415	0.94149	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.57752	0.38;0.38	5.29	5.29	0.74685	CUB (4);	0.000000	0.64402	D	0.000011	T	0.63212	0.2492	M	0.73598	2.24	0.80722	D	1	P;P	0.45768	0.728;0.866	B;P	0.46389	0.217;0.515	T	0.69412	-0.5152	10	0.72032	D	0.01	-18.1455	18.9328	0.92572	0.0:1.0:0.0:0.0	.	190;191	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	191;190	ENSP00000313088:E191K;ENSP00000299430:E190K	ENSP00000299430:E190K	E	-	1	0	NETO1	68612400	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.487000	0.81328	2.462000	0.83206	0.655000	0.94253	GAA		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		89	413	0	0	0	1	0	89	413					T	70461420	C	T	70461420	3	4	79	1	0	0	0	0	1	0	0	0	10381	864	30	2	1050	2	NETO1	18	70461420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43747	70461420	7615828	18176	28493	182	2									
NETO1	81832	broad.mit.edu	37	chr18	70461430	70461430	+	Missense_Mutation	SNP	T	T	G													gctttgccttccttcataatTtgtatagactccacaattcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461430T>G	ENST00000327305.6	-	6	1218	c.561A>C	c.(559-561)caA>caC	p.Q187H	NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	187	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)		CCTTCATAATTTGTATAGACT	0.438																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(559-561)caA>caC		neuropilin (NRP) and tolloid (TLL)-like 1							140	127	131					18																	70461430		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461430T>G	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.561A>C	18.37:g.70461430T>G	ENSP00000313088:p.Gln187His					NETO1_ENST00000299430.2_Missense_Mutation_p.Q186H|NETO1_ENST00000583169.1_Missense_Mutation_p.Q187H	p.Q187H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	6	1218	-		Esophageal squamous(42;0.129)	187			CUB 2.		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.561A>C	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.254677	0.59212	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.39592	1.07;1.07	5.29	-3.05	0.05396	CUB (4);	0.000000	0.56097	D	0.000026	T	0.58264	0.2110	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.78314	0.991;0.981	T	0.60662	-0.7219	10	0.66056	D	0.02	-13.7615	11.5235	0.50565	0.0:0.4964:0.0:0.5036	.	186;187	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	187;186	ENSP00000313088:Q187H;ENSP00000299430:Q186H	ENSP00000299430:Q186H	Q	-	3	2	NETO1	68612410	0.627000	0.27129	0.727000	0.30756	0.741000	0.42261	-0.207000	0.09384	-0.588000	0.05882	-0.256000	0.11100	CAA		0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		85	389	0	0	0	1	0	85	389					G	70461430	T	G	70461430	3	3	79	1	0	0	0	0	1	0	0	0	10381	1838	64	4	1060	4	NETO1	18	70461430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10	70461430	7615818	18177	28494	182	2									
NETO1	81832	broad.mit.edu	37	chr18	70532465	70532465	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agacaaatggaggatgattaAacttgctacaactgaaacag	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70532465A>C	ENST00000327305.6	-	2	697	c.40T>G	c.(40-42)Tta>Gta	p.L14V	NETO1_ENST00000299430.2_Missense_Mutation_p.L13V|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	14					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)		AGGATGATTAAACTTGCTACA	0.299																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(40-42)Tta>Gta		neuropilin (NRP) and tolloid (TLL)-like 1							74	70	72					18																	70532465		2203	4297	6500	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70532465A>C	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.40T>G	18.37:g.70532465A>C	ENSP00000313088:p.Leu14Val					NETO1_ENST00000299430.2_Missense_Mutation_p.L13V|NETO1_ENST00000583169.1_Missense_Mutation_p.L14V|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.L13V	p.L14V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	2	697	-		Esophageal squamous(42;0.129)	14					Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.40T>G	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299055	0.40694	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.27402	1.88;1.67;1.72	5.77	4.48	0.54585	.	0.000000	0.43919	D	0.000502	T	0.18923	0.0454	N	0.24115	0.695	0.41532	D	0.988462	B;B;B	0.26147	0.143;0.062;0.017	B;B;B	0.25506	0.061;0.056;0.01	T	0.08513	-1.0718	10	0.72032	D	0.01	-0.6025	5.8898	0.18904	0.7757:0.0:0.2243:0.0	.	13;13;14	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	V	14;13;13	ENSP00000313088:L14V;ENSP00000299430:L13V;ENSP00000381024:L13V	ENSP00000299430:L13V	L	-	1	2	NETO1	68683445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.645000	0.46621	2.340000	0.79590	0.528000	0.53228	TTA		0.299	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		4	106	0	0	0	1	0	4	106					C	70532465	A	C	70532465	3	2	79	1	0	0	0	0	1	0	0	0	10381	11	1	4	1606	4	NETO1	18	70532465	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	71035	70532465	7544783	18178	28495											
FBXO15	201456	broad.mit.edu	37	chr18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-													gaggtaggtgttctctgttaTtttttaaatgtataacaatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71749238delT	ENST00000419743.2	-	9	1266	c.1187delA	c.(1186-1188)aatfs	p.N397fs	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	397						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)		TTCTCTGTTATTTTTTAAATG	0.328																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(958-960)atfs		F-box protein 15							103	97	99					18																	71749238		2203	4300	6503	SO:0001589	frameshift_variant	201456							g.chr18:71749238delT	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.1187delA	18.37:g.71749238delT	ENSP00000393154:p.Asn397fs					FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Frame_Shift_Del_p.N397fs	p.N321fs	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	9	1294	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	321					B3KST3	Frame_Shift_Del	DEL	ENST00000419743.2	37	c.959delA	CCDS45884.1																																																																																				0.328	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		32	147						32	147	---	---	---	---	-	71749238	T	-	71749238	7	5	79	1	0	1	0	1	0	0	0	0	5753	1493	52	0	353	0	FBXO15	18	71749238	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	1216773	71749238	6328010	18179	28496											
FBXO15	201456	broad.mit.edu	37	chr18	71796836	71796836	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtataattgcccaacCtaaaccaaatattctggaga	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71796836C>A	ENST00000419743.2	-	5	668	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FBXO15_ENST00000269500.5_Missense_Mutation_p.G121C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	197						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)		ATTGCCCAACCTAAACCAAAT	0.308																																						ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(361-363)Ggt>Tgt		F-box protein 15							54	57	56					18																	71796836		2203	4299	6502	SO:0001583	missense	201456							g.chr18:71796836C>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.589G>T	18.37:g.71796836C>A	ENSP00000393154:p.Gly197Cys					FBXO15_ENST00000419743.2_Missense_Mutation_p.G197C	p.G121C	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	5	696	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	121					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.361G>T	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396078	0.62177	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.9;0.88	5.85	2.69	0.31865	.	0.424638	0.28016	N	0.016924	T	0.48447	0.1500	L	0.57536	1.79	0.26728	N	0.970651	D;D	0.69078	0.997;0.993	P;P	0.57283	0.817;0.628	T	0.37549	-0.9701	10	0.72032	D	0.01	-15.6153	5.641	0.17565	0.0:0.5174:0.0:0.4826	.	197;121	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	121;197	ENSP00000269500:G121C;ENSP00000393154:G197C	ENSP00000269500:G121C	G	-	1	0	FBXO15	69947816	0.140000	0.22579	0.974000	0.42286	0.931000	0.56810	0.702000	0.25631	0.799000	0.34018	0.655000	0.94253	GGT		0.308	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		32	155	1	0	3.03874e-20	1	3.40186e-20	32	155					A	71796836	C	A	71796836	3	1	79	1	0	0	0	0	1	0	0	0	5753	681	24	3	967	3	FBXO15	18	71796836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47598	71796836	6280412	18180	28497											
C18orf55	29090	broad.mit.edu	37	chr18	71822623	71822623	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagagccttagaaaaatgCagatcacatcctgaggttag	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71822623C>T	ENST00000169551.6	+	3	745	c.447C>T	c.(445-447)tgC>tgT	p.C149C	TIMM21_ENST00000580087.1_Silent_p.C149C	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	149					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											TAGAAAAATGCAGATCACATC	0.408																																						ENST00000580087.1																			0											c.(445-447)tgC>tgT		translocase of inner mitochondrial membrane 21 homolog (yeast)							112	105	107					18																	71822623		2203	4300	6503	SO:0001819	synonymous_variant	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71822623C>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"chromosome 18 open reading frame 55"	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.447C>T	18.37:g.71822623C>T						TIMM21_ENST00000169551.6_Silent_p.C149C	p.C149C			Q9BVV7	TI21L_HUMAN			3	733	+			149					Q9P010	Silent	SNP	ENST00000169551.6	37	c.447C>T	CCDS12003.1																																																																																				0.408	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		61	253	0	0	0	1	0	61	253					T	71822623	C	T	71822623	2	4	79	1	0	0	0	0	0	0	0	1	1912	718	25	2		2	C18orf55	18	71822623	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25787	71822623	6254625	18181	28498											
CNDP2	55748	broad.mit.edu	37	chr18	72187265	72187265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagggaaccaagatgctgGccgcgtacctgtatgaggtc	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72187265G>A	ENST00000324262.4	+	12	1706	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	464					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)		CAAGATGCTGGCCGCGTACCT	0.547																																						ENST00000324262.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24						c.(1390-1392)Gcc>Acc		CNDP dipeptidase 2 (metallopeptidase M20 family)							119	94	102					18																	72187265		2203	4300	6503	SO:0001583	missense	55748					cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	g.chr18:72187265G>A	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.1390G>A	18.37:g.72187265G>A	ENSP00000325548:p.Ala464Thr					CNDP2_ENST00000579847.1_Missense_Mutation_p.A464T|CNDP2_ENST00000324301.8_Missense_Mutation_p.A380T	p.A464T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.22)	12	1706	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	464					B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	c.1390G>A	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722165	0.68959	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.09723	2.95;2.95	5.44	4.56	0.56223	.	0.147326	0.64402	D	0.000010	T	0.20047	0.0482	M	0.78801	2.425	0.38235	D	0.941156	P;P	0.38195	0.513;0.622	B;B	0.43251	0.291;0.413	T	0.02942	-1.1091	10	0.72032	D	0.01	-9.0077	11.9072	0.52719	0.0801:0.0:0.9199:0.0	.	380;464	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	T	464;380	ENSP00000325548:A464T;ENSP00000325756:A380T	ENSP00000325548:A464T	A	+	1	0	CNDP2	70338245	1.000000	0.71417	0.972000	0.41901	0.323000	0.28346	5.178000	0.65037	2.548000	0.85928	0.650000	0.86243	GCC		0.547	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235		31	152	0	0	0	1	0	31	152					A	72187265	G	A	72187265	3	1	79	1	0	0	0	0	1	0	0	0	3603	1203	42	2	1432	2	CNDP2	18	72187265	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	364642	72187265	5889983	18182	28499											
ZNF407	55628	broad.mit.edu	37	chr18	72343146	72343146	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaggtttttcagaatcatcGaactctgatagtgttgttat	9	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72343146G>A	ENST00000299687.5	+	1	171	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_ENST00000309902.6_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000577538.1_Silent_p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	57					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.S57S(1)		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)		CAGAATCATCGAACTCTGATA	0.413																																						ENST00000299687.5																			1	Substitution - coding silent(1)	p.S57S(1)	large_intestine(1)	central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(169-171)tcG>tcA		zinc finger protein 407							91	89	90					18																	72343146		1841	4084	5925	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343146G>A	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.171G>A	18.37:g.72343146G>A						ZNF407_ENST00000577538.1_Silent_p.S57S|ZNF407_ENST00000582337.1_Silent_p.S57S|ZNF407_ENST00000309902.6_Silent_p.S57S	p.S57S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	171	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	57					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.171G>A	CCDS45885.1																																																																																				0.413	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		74	305	0	0	0	1	0	74	305					A	72343146	G	A	72343146	2	1	79	1	0	0	0	0	0	0	0	1	17940	1045	37	1		1	ZNF407	18	72343146	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	155881	72343146	5734102	18183	28500											
ZNF407	55628	broad.mit.edu	37	chr18	72353033	72353033	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgccagaaaccatgTgaaaaggcaccttgggatga	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72353033T>C	ENST00000299687.5	+	2	4757	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A|ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1586					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)		AGAAACCATGTGAAAAGGCAC	0.423																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(4756-4758)gTg>gCg		zinc finger protein 407							204	199	201					18																	72353033		2000	4181	6181	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72353033T>C	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.4757T>C	18.37:g.72353033T>C	ENSP00000299687:p.Val1586Ala					ZNF407_ENST00000582337.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000577538.1_Missense_Mutation_p.V1586A|ZNF407_ENST00000309902.6_Missense_Mutation_p.V1586A	p.V1586A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	2	4757	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1586					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.4757T>C	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.734815	0.69189	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.60672	0.17;2.42	5.1	5.1	0.69264	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.68016	0.2955	L	0.42744	1.35	0.36137	D	0.846519	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.67019	-0.5776	10	0.22109	T	0.4	.	15.1811	0.72960	0.0:0.0:0.0:1.0	.	1586;1586;1586	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	A	1586	ENSP00000299687:V1586A;ENSP00000310359:V1586A	ENSP00000299687:V1586A	V	+	2	0	ZNF407	70482021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.655000	0.83696	0.240000	0.21263	0.655000	0.94253	GTG		0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		140	525	0	0	0	1	0	140	525					C	72353033	T	C	72353033	3	2	79	1	0	0	0	0	1	0	0	0	17940	1696	59	4	4763	4	ZNF407	18	72353033	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9887	72353033	5724215	18184	28501											
ZNF407	55628	broad.mit.edu	37	chr18	72775187	72775187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacagccccttcaccgcggCggccttggcagaagagcccc	12	17	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775187C>T	ENST00000299687.5	+	8	5510	c.5510C>T	c.(5509-5511)gCg>gTg	p.A1837V		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1837					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)		TTCACCGCGGCGGCCTTGGCA	0.617																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5509-5511)gCg>gTg		zinc finger protein 407							88	103	98					18																	72775187		2067	4199	6266	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775187C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5510C>T	18.37:g.72775187C>T	ENSP00000299687:p.Ala1837Val						p.A1837V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5510	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1837					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.5510C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986701	0.35036	.	.	ENSG00000215421	ENST00000299687	T	0.11930	2.73	4.97	3.19	0.36642	.	.	.	.	.	T	0.06416	0.0165	L	0.27053	0.805	0.09310	N	0.999998	P	0.50710	0.938	B	0.33890	0.172	T	0.36696	-0.9737	9	0.05721	T	0.95	.	9.8525	0.41066	0.0:0.8462:0.0:0.1538	.	1837	Q9C0G0	ZN407_HUMAN	V	1837	ENSP00000299687:A1837V	ENSP00000299687:A1837V	A	+	2	0	ZNF407	70904175	1.000000	0.71417	0.000000	0.03702	0.002000	0.02628	5.516000	0.67055	-0.759000	0.04684	-2.034000	0.00421	GCG		0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		24	964	0	0	0	1	0	24	964					T	72775187	C	T	72775187	3	4	79	1	0	0	0	0	1	0	0	0	17940	768	27	1	5670	1	ZNF407	18	72775187	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422154	72775187	5302061	18185	28502											
ZNF407	55628	broad.mit.edu	37	chr18	72775296	72775296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcatcttccagggctacgaCggggagtttgccctggaccc	12	13	2	0	rs187401042		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775296C>T	ENST00000299687.5	+	8	5619	c.5619C>T	c.(5617-5619)gaC>gaT	p.D1873D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1873					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)		AGGGCTACGACGGGGAGTTTG	0.687													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14592	0.0		0.0	False		,,,				2504	0.0					ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5617-5619)gaC>gaT		zinc finger protein 407							27	37	34					18																	72775296		2058	4187	6245	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775296C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5619C>T	18.37:g.72775296C>T							p.D1873D	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5619	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1873					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5619C>T	CCDS45885.1																																																																																				0.687	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		65	210	0	0	0	1	0	65	210					T	72775296	C	T	72775296	2	4	79	1	0	0	0	0	0	0	0	1	17940	535	19	1		1	ZNF407	18	72775296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109	72775296	5301952	18186	28503											
ZNF407	55628	broad.mit.edu	37	chr18	72775354	72775354	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgccacgctgcagacgCtggccatggccggccaggtg	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775354C>T	ENST00000299687.5	+	8	5677	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1893					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)		GCTGCAGACGCTGGCCATGGC	0.682																																						ENST00000299687.5																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(5677-5679)Ctg>Ttg		zinc finger protein 407							10	14	12					18																	72775354		2077	4188	6265	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775354C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5677C>T	18.37:g.72775354C>T							p.L1893L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	8	5677	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	1893					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.5677C>T	CCDS45885.1																																																																																				0.682	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		17	117	0	0	0	1	0	17	117					T	72775354	C	T	72775354	2	4	79	1	0	0	0	0	0	0	0	1	17940	796	28	2		2	ZNF407	18	72775354	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58	72775354	5301894	18187	28504											
ZADH2	284273	broad.mit.edu	37	chr18	72913911	72913911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggttccaattacatgGcactttgccttctttgaaag	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72913911G>A	ENST00000322342.3	-	2	883	c.594C>T	c.(592-594)tgC>tgT	p.C198C	ZADH2_ENST00000537114.2_Silent_p.C75C	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	198						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)		CAATTACATGGCACTTTGCCT	0.478																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(592-594)tgC>tgT		zinc binding alcohol dehydrogenase domain containing 2							160	170	167					18																	72913911		2203	4300	6503	SO:0001819	synonymous_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913911G>A	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.594C>T	18.37:g.72913911G>A						ZADH2_ENST00000537114.2_Silent_p.C75C	p.C198C	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	883	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	198					A8KA15|B4DZ91	Silent	SNP	ENST00000322342.3	37	c.594C>T	CCDS12008.1																																																																																				0.478	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		136	1316	0	0	0	1	0	136	1316					A	72913911	G	A	72913911	2	1	79	1	0	0	0	0	0	0	0	1	17565	1195	42	2		2	ZADH2	18	72913911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138557	72913911	5163337	18188	28505											
TSHZ1	10194	broad.mit.edu	37	chr18	72998525	72998525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcagaaagcagcgaaccCgtacgtcacgcccaataacc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998525C>T	ENST00000580243.1	+	2	1511	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.P343L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	388					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCGAACCCGTACGTCACG	0.622																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1027-1029)cCg>cTg		teashirt zinc finger homeobox 1							104	109	108					18																	72998525		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998525C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1163C>T	18.37:g.72998525C>T	ENSP00000464391:p.Pro388Leu					TSHZ1_ENST00000580243.1_Missense_Mutation_p.P388L	p.P343L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1612	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	388					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1028C>T		.	.	.	.	.	.	.	.	.	.	C	10.22	1.290455	0.23478	.	.	ENSG00000179981	ENST00000322038	T	0.11604	2.76	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	L	0.35593	1.075	0.42428	D	0.992664	D	0.89917	1.0	D	0.64506	0.926	T	0.13899	-1.0492	10	0.02654	T	1	-26.8549	18.8997	0.92437	0.0:1.0:0.0:0.0	.	388	Q6ZSZ6	TSH1_HUMAN	L	343	ENSP00000323584:P343L	ENSP00000323584:P343L	P	+	2	0	TSHZ1	71127513	1.000000	0.71417	0.903000	0.35520	0.304000	0.27724	7.343000	0.79319	-1.153000	0.02829	-1.134000	0.01955	CCG		0.622	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		54	298	0	0	0	1	0	54	298					T	72998525	C	T	72998525	3	4	79	1	0	0	0	0	1	0	0	0	16676	652	23	1	1030	1	TSHZ1	18	72998525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84614	72998525	5078723	18189	28506											
TSHZ1	10194	broad.mit.edu	37	chr18	72998659	72998659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacgctgcagcagctcaccGcccacatgatggtcaccggg	11	16	2	1	rs373817259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998659G>A	ENST00000580243.1	+	2	1645	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A388T			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	433					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCTCACCGCCCACATGAT	0.597																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1162-1164)Gcc>Acc		teashirt zinc finger homeobox 1		G	THR/ALA	0,4406		0,0,2203	52	50	51		1162	4.4	1	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSHZ1	NM_005786.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	388/1033	72998659	1,13005	2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998659G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1297G>A	18.37:g.72998659G>A	ENSP00000464391:p.Ala433Thr					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A433T	p.A388T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1746	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	433					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	12.40	1.926152	0.34002	0.0	1.16E-4	ENSG00000179981	ENST00000322038	T	0.28069	1.63	5.27	4.38	0.52667	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.09774	0.0240	N	0.02539	-0.55	0.52099	D	0.999949	P	0.40731	0.728	B	0.35073	0.195	T	0.18935	-1.0321	10	0.10111	T	0.7	-25.0106	9.3694	0.38246	0.0752:0.1457:0.7791:0.0	.	433	Q6ZSZ6	TSH1_HUMAN	T	388	ENSP00000323584:A388T	ENSP00000323584:A388T	A	+	1	0	TSHZ1	71127647	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.389000	0.97243	2.452000	0.82932	0.561000	0.74099	GCC		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	265	0	0	0	1	0	7	265					A	72998659	G	A	72998659	3	1	79	1	0	0	0	0	1	0	0	0	16676	1087	38	1	1164	1	TSHZ1	18	72998659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	72998659	5078589	18190	28507											
TSHZ1	10194	broad.mit.edu	37	chr18	72999114	72999114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcatccatgcagcctaccaGctcccgggcaccgtgaagcc	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999114G>T	ENST00000580243.1	+	2	2100	c.1752G>T	c.(1750-1752)caG>caT	p.Q584H	TSHZ1_ENST00000322038.5_Missense_Mutation_p.Q539H			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	584					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGCCTACCAGCTCCCGGGCA	0.637																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1615-1617)caG>caT		teashirt zinc finger homeobox 1							34	36	35					18																	72999114		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999114G>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1752G>T	18.37:g.72999114G>T	ENSP00000464391:p.Gln584His					TSHZ1_ENST00000580243.1_Missense_Mutation_p.Q584H	p.Q539H	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2201	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	584					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1617G>T		.	.	.	.	.	.	.	.	.	.	G	5.717	0.316735	0.10845	.	.	ENSG00000179981	ENST00000322038	T	0.46063	0.88	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.83483	2.645	0.41441	D	0.987929	D	0.71674	0.998	D	0.79784	0.993	T	0.68383	-0.5423	10	0.87932	D	0	-33.2648	11.2543	0.49045	0.1473:0.0:0.8527:0.0	.	584	Q6ZSZ6	TSH1_HUMAN	H	539	ENSP00000323584:Q539H	ENSP00000323584:Q539H	Q	+	3	2	TSHZ1	71128102	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.607000	0.61133	0.665000	0.31066	-0.291000	0.09656	CAG		0.637	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		60	338	1	0	2.73361e-28	1	3.17826e-28	60	338					T	72999114	G	T	72999114	3	4	79	1	0	0	0	0	1	0	0	0	16676	962	34	3	1619	3	TSHZ1	18	72999114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	72999114	5078134	18191	28508											
TSHZ1	10194	broad.mit.edu	37	chr18	72999452	72999452	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaagaagggccctgaggCcgagactgggaaggccaaaa	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999452C>T	ENST00000580243.1	+	2	2438	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	TSHZ1_ENST00000322038.5_Missense_Mutation_p.A652V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	697					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCCCTGAGGCCGAGACTGGG	0.557																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1954-1956)gCc>gTc		teashirt zinc finger homeobox 1							89	81	84					18																	72999452		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999452C>T	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2090C>T	18.37:g.72999452C>T	ENSP00000464391:p.Ala697Val					TSHZ1_ENST00000580243.1_Missense_Mutation_p.A697V	p.A652V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2539	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	697					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1955C>T		.	.	.	.	.	.	.	.	.	.	C	0.444	-0.896895	0.02472	.	.	ENSG00000179981	ENST00000322038	T	0.37752	1.18	5.12	2.31	0.28768	.	1.288840	0.04943	N	0.458924	T	0.27454	0.0674	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55945	-0.8060	10	0.41790	T	0.15	-3.9715	10.0651	0.42299	0.0:0.7777:0.0:0.2223	.	697	Q6ZSZ6	TSH1_HUMAN	V	652	ENSP00000323584:A652V	ENSP00000323584:A652V	A	+	2	0	TSHZ1	71128440	0.012000	0.17670	0.000000	0.03702	0.064000	0.16182	1.052000	0.30429	-4.679000	0.00036	-1.982000	0.00454	GCC		0.557	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	269	0	0	0	1	0	7	269					T	72999452	C	T	72999452	3	4	79	1	0	0	0	0	1	0	0	0	16676	739	26	2	1957	2	TSHZ1	18	72999452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338	72999452	5077796	18192	28509											
TSHZ1	10194	broad.mit.edu	37	chr18	72999799	72999799	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccagcccattgacttaAccaagtccaagaacaagccg	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999799A>G	ENST00000580243.1	+	2	2785	c.2437A>G	c.(2437-2439)Acc>Gcc	p.T813A	TSHZ1_ENST00000322038.5_Missense_Mutation_p.T768A			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	813					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CATTGACTTAACCAAGTCCAA	0.567																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2302-2304)Acc>Gcc		teashirt zinc finger homeobox 1							53	55	55					18																	72999799		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999799A>G	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2437A>G	18.37:g.72999799A>G	ENSP00000464391:p.Thr813Ala					TSHZ1_ENST00000580243.1_Missense_Mutation_p.T813A	p.T768A	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2886	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	813					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2302A>G		.	.	.	.	.	.	.	.	.	.	A	11.40	1.626961	0.28978	.	.	ENSG00000179981	ENST00000322038	T	0.53423	0.62	5.26	5.26	0.73747	.	0.052129	0.85682	D	0.000000	T	0.52092	0.1713	M	0.80422	2.495	0.46222	D	0.99893	P	0.43287	0.802	B	0.38616	0.277	T	0.63189	-0.6693	10	0.87932	D	0	-49.2603	15.1778	0.72927	1.0:0.0:0.0:0.0	.	813	Q6ZSZ6	TSH1_HUMAN	A	768	ENSP00000323584:T768A	ENSP00000323584:T768A	T	+	1	0	TSHZ1	71128787	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	8.817000	0.91985	2.466000	0.83321	0.561000	0.74099	ACC		0.567	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		68	337	0	0	0	1	0	68	337					G	72999799	A	G	72999799	3	3	79	1	0	0	0	0	1	0	0	0	16676	43	2	4	2304	4	TSHZ1	18	72999799	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	347	72999799	5077449	18193	28510											
C18orf62	284274	broad.mit.edu	37	chr18	73122827	73122827	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtagtgtcatttattctgCttctgctgtgttcctggatg	10	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:73122827C>T	ENST00000579022.1	-	3	437	c.298G>A	c.(298-300)Gca>Aca	p.A100T	SMIM21_ENST00000382638.3_Missense_Mutation_p.S56N|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	100						integral component of membrane (GO:0016021)											ATTTATTCTGCTTCTGCTGTG	0.363																																						ENST00000579022.1																			0											c.(298-300)Gca>Aca		small integral membrane protein 21							140	138	138					18																	73122827		2203	4300	6503	SO:0001583	missense	284274							g.chr18:73122827C>T		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 62"	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.298G>A	18.37:g.73122827C>T	ENSP00000462106:p.Ala100Thr					SMIM21_ENST00000382638.3_Missense_Mutation_p.S56N|RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron	p.A100T	NM_001037331.2	NP_001032408.1					3	437	-									Missense_Mutation	SNP	ENST00000579022.1	37	c.298G>A	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	C	4.611	0.113502	0.08831	.	.	ENSG00000206026	ENST00000382638	.	.	.	3.88	-2.39	0.06602	.	.	.	.	.	T	0.14614	0.0353	N	0.08118	0	0.19575	N	0.999961	B	0.02656	0.0	B	0.04013	0.001	T	0.20706	-1.0267	8	0.87932	D	0	.	0.8302	0.01129	0.2683:0.3119:0.1084:0.3114	.	100	Q3B7S5	CR062_HUMAN	T	100	.	ENSP00000372083:A100T	A	-	1	0	C18orf62	71251815	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.158000	0.10070	-0.447000	0.07138	0.460000	0.39030	GCA		0.363	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		64	255	0	0	0	1	0	64	255					T	73122827	C	T	73122827	3	4	79	1	0	0	0	0	1	0	0	0	1913	797	28	2	11	2	C18orf62	18	73122827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123028	73122827	4954421	18194	28511											
ZNF516	9658	broad.mit.edu	37	chr18	74090972	74090972	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taggacgggggggcgccccaGccacgccgggctgggcctgc	19	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74090972G>T	ENST00000443185.2	-	4	3415	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1033					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCGCCCCAGCCACGCCGGG	0.682																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3097-3099)gCt>gAt		zinc finger protein 516							29	34	33					18																	74090972		1906	4091	5997	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74090972G>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3098C>A	18.37:g.74090972G>T	ENSP00000394757:p.Ala1033Asp					ZNF516_ENST00000524431.2_5'UTR	p.A1033D	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3415	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1033						Missense_Mutation	SNP	ENST00000443185.2	37	c.3098C>A		.	.	.	.	.	.	.	.	.	.	G	2.797	-0.250111	0.05867	.	.	ENSG00000101493	ENST00000443185	T	0.10573	2.86	2.24	1.29	0.21616	.	0.919558	0.09263	N	0.826312	T	0.08447	0.0210	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.39663	-0.9603	8	0.87932	D	0	.	5.3938	0.16259	0.128:0.2057:0.6663:0.0	.	.	.	.	D	1033	ENSP00000394757:A1033D	ENSP00000394757:A1033D	A	-	2	0	ZNF516	72219960	0.000000	0.05858	0.004000	0.12327	0.102000	0.19082	0.294000	0.19047	0.226000	0.20979	0.486000	0.48141	GCT		0.682	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		61	328	1	0	6.3091e-27	1	7.28755e-27	61	328					T	74090972	G	T	74090972	3	4	79	1	0	0	0	0	1	0	0	0	18013	971	34	3	410	3	ZNF516	18	74090972	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	968145	74090972	3986276	18195	28512											
ZNF516	9658	broad.mit.edu	37	chr18	74091237	74091237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacaggcttgctattggCcgagggctgcgcgccagccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091237C>T	ENST00000443185.2	-	4	3150	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGCTATTGGCCGAGGGCTGC	0.677																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2833-2835)Gcc>Acc		zinc finger protein 516							20	25	23					18																	74091237		1775	3912	5687	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091237C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2833G>A	18.37:g.74091237C>T	ENSP00000394757:p.Ala945Thr					ZNF516_ENST00000524431.2_5'UTR	p.A945T	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	3150	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	945						Missense_Mutation	SNP	ENST00000443185.2	37	c.2833G>A		.	.	.	.	.	.	.	.	.	.	C	0.077	-1.191499	0.01607	.	.	ENSG00000101493	ENST00000443185	T	0.09911	2.93	4.13	2.34	0.29019	.	1.899140	0.02400	N	0.080617	T	0.05547	0.0146	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.35375	-0.9791	9	0.11485	T	0.65	.	3.2019	0.06652	0.1866:0.502:0.0:0.3114	.	945	Q92618	ZN516_HUMAN	T	945	ENSP00000394757:A945T	ENSP00000394757:A945T	A	-	1	0	ZNF516	72220225	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.125000	0.15749	0.520000	0.28426	0.491000	0.48974	GCC		0.677	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		58	300	0	0	0	1	0	58	300					T	74091237	C	T	74091237	3	4	79	1	0	0	0	0	1	0	0	0	18013	739	26	2	675	2	ZNF516	18	74091237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	265	74091237	3986011	18196	28513											
ZNF516	9658	broad.mit.edu	37	chr18	74091857	74091857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcatcccgcgtcgacCtcgcacttaaatctagcggc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091857C>T	ENST00000443185.2	-	4	2530	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCGCGTCGACCTCGCACTTAA	0.592																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2212-2214)aGg>aAg		zinc finger protein 516							50	54	52					18																	74091857		2017	4172	6189	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74091857C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.2213G>A	18.37:g.74091857C>T	ENSP00000394757:p.Arg738Lys					ZNF516_ENST00000524431.2_5'UTR	p.R738K	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	4	2530	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	738						Missense_Mutation	SNP	ENST00000443185.2	37	c.2213G>A		.	.	.	.	.	.	.	.	.	.	C	0.392	-0.922902	0.02377	.	.	ENSG00000101493	ENST00000443185	T	0.09073	3.02	4.55	0.168	0.15012	.	0.745817	0.12140	N	0.495931	T	0.02455	0.0075	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44862	-0.9300	9	0.02654	T	1	-16.5927	2.3624	0.04310	0.4105:0.3026:0.0:0.2869	.	738	Q92618	ZN516_HUMAN	K	738	ENSP00000394757:R738K	ENSP00000394757:R738K	R	-	2	0	ZNF516	72220845	0.817000	0.29147	0.010000	0.14722	0.004000	0.04260	1.027000	0.30115	0.122000	0.18314	0.655000	0.94253	AGG		0.592	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		34	179	0	0	0	1	0	34	179					T	74091857	C	T	74091857	3	4	79	1	0	0	0	0	1	0	0	0	18013	681	24	2	1295	2	ZNF516	18	74091857	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	620	74091857	3985391	18197	28514											
ZNF516	9658	broad.mit.edu	37	chr18	74153437	74153437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatctgatgataggtgCggaagatcttgccgcactcg	12	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74153437C>T	ENST00000443185.2	-	3	1891	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGATAGGTGCGGAAGATCTT	0.716																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1573-1575)cGc>cAc		zinc finger protein 516							8	9	9					18																	74153437		2057	4158	6215	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153437C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1574G>A	18.37:g.74153437C>T	ENSP00000394757:p.Arg525His					ZNF516_ENST00000524431.2_5'UTR	p.R525H	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1891	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	525						Missense_Mutation	SNP	ENST00000443185.2	37	c.1574G>A		.	.	.	.	.	.	.	.	.	.	C	25.5	4.645577	0.87859	.	.	ENSG00000101493	ENST00000443185	T	0.29142	1.58	5.21	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000001	T	0.58278	0.2111	.	.	.	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.65721	-0.6099	9	0.72032	D	0.01	-61.0823	15.6856	0.77409	0.0:0.8623:0.1376:0.0	.	525	Q92618	ZN516_HUMAN	H	525	ENSP00000394757:R525H	ENSP00000394757:R525H	R	-	2	0	ZNF516	72282425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	1.253000	0.44018	0.655000	0.94253	CGC		0.716	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		10	64	0	0	0	1	0	10	64					T	74153437	C	T	74153437	3	4	79	1	0	0	0	0	1	0	0	0	18013	768	27	1	1938	1	ZNF516	18	74153437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61580	74153437	3923811	18198	28515											
ZNF516	9658	broad.mit.edu	37	chr18	74154150	74154150	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttcttgaggaaccagggCtccttgaacctacggccgca	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154150C>T	ENST00000443185.2	-	3	1178	c.861G>A	c.(859-861)gaG>gaA	p.E287E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	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)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAACCAGGGCTCCTTGAACC	0.622																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(859-861)gaG>gaA		zinc finger protein 516							44	52	49					18																	74154150		2156	4255	6411	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154150C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.861G>A	18.37:g.74154150C>T						ZNF516_ENST00000524431.2_5'UTR	p.E287E	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1178	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	287						Silent	SNP	ENST00000443185.2	37	c.861G>A																																																																																					0.622	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		40	258	0	0	0	1	0	40	258					T	74154150	C	T	74154150	2	4	79	1	0	0	0	0	0	0	0	1	18013	796	28	2		2	ZNF516	18	74154150	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	713	74154150	3923098	18199	28516											
ZNF516	9658	broad.mit.edu	37	chr18	74154335	74154335	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgccgggcccctgcgCggtgatgtggtccctctcga	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154335C>T	ENST00000443185.2	-	3	993	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCCTGCGCGGTGATGTGG	0.697																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(676-678)Gcg>Acg		zinc finger protein 516							18	20	19					18																	74154335		2129	4244	6373	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154335C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.676G>A	18.37:g.74154335C>T	ENSP00000394757:p.Ala226Thr					ZNF516_ENST00000524431.2_5'UTR	p.A226T	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	993	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	226						Missense_Mutation	SNP	ENST00000443185.2	37	c.676G>A		.	.	.	.	.	.	.	.	.	.	C	15.53	2.860693	0.51482	.	.	ENSG00000101493	ENST00000443185	T	0.11169	2.8	4.4	4.4	0.53042	.	0.073018	0.53938	D	0.000045	T	0.07279	0.0184	.	.	.	0.28717	N	0.903243	B	0.31968	0.349	B	0.21546	0.035	T	0.16335	-1.0406	9	0.33141	T	0.24	-2.0811	12.0526	0.53515	0.0:0.9159:0.0:0.0841	.	226	Q92618	ZN516_HUMAN	T	226	ENSP00000394757:A226T	ENSP00000394757:A226T	A	-	1	0	ZNF516	72283323	0.998000	0.40836	0.673000	0.29887	0.881000	0.50899	3.696000	0.54757	2.443000	0.82685	0.563000	0.77884	GCG		0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		50	154	0	0	0	1	0	50	154					T	74154335	C	T	74154335	3	4	79	1	0	0	0	0	1	0	0	0	18013	768	27	1	2836	1	ZNF516	18	74154335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185	74154335	3922913	18200	28517											
ZNF516	9658	broad.mit.edu	37	chr18	74154528	74154528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggggcgcatgcggacccCtctgcccccttcttgctgct	11	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154528C>T	ENST00000443185.2	-	3	800	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	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)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGCGGACCCCTCTGCCCCCT	0.697																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(481-483)gaG>gaA		zinc finger protein 516							10	13	12					18																	74154528		1928	4066	5994	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154528C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.483G>A	18.37:g.74154528C>T						ZNF516_ENST00000524431.2_5'UTR	p.E161E	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	800	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	161						Silent	SNP	ENST00000443185.2	37	c.483G>A																																																																																					0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		34	113	0	0	0	1	0	34	113					T	74154528	C	T	74154528	2	4	79	1	0	0	0	0	0	0	0	1	18013	680	24	2		2	ZNF516	18	74154528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193	74154528	3922720	18201	28518											
ZNF236	7776	broad.mit.edu	37	chr18	74561610	74561610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacgccacatgagggatcacGagcgaaatgacaaggtatgt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74561610G>A	ENST00000253159.8	+	2	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	60					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGATCACGAGCGAAATGA	0.358																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(178-180)Gag>Aag		zinc finger protein 236							65	62	63					18																	74561610		1875	4104	5979	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74561610G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.178G>A	18.37:g.74561610G>A	ENSP00000253159:p.Glu60Lys					ZNF236_ENST00000320610.9_Missense_Mutation_p.E62K	p.E60K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	2	376	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	60					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.178G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244485	0.79912	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.16743	2.32;2.32	5.65	5.65	0.86999	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.20483	0.58	0.46725	D	0.999171	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.766	T	0.05305	-1.0893	10	0.20519	T	0.43	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	60;60	Q9NWI2;Q9UL36	.;ZN236_HUMAN	K	60	ENSP00000253159:E60K;ENSP00000444524:E60K	ENSP00000253159:E60K	E	+	1	0	ZNF236	72690598	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.692000	0.68256	2.668000	0.90789	0.655000	0.94253	GAG		0.358	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			42	164	0	0	0	1	0	42	164					A	74561610	G	A	74561610	3	1	79	1	0	0	0	0	1	0	0	0	17842	1059	37	1	184	1	ZNF236	18	74561610	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	407082	74561610	3515638	18202	28519											
ZNF236	7776	broad.mit.edu	37	chr18	74620380	74620380	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccactcaaatgcaggtggAgatcgagagcgacgagctgc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74620380A>C	ENST00000253159.8	+	14	2594	c.2396A>C	c.(2395-2397)gAg>gCg	p.E799A	ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	799					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGCAGGTGGAGATCGAGAGC	0.622																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2395-2397)gAg>gCg		zinc finger protein 236							66	75	72					18																	74620380		2099	4216	6315	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620380A>C	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2396A>C	18.37:g.74620380A>C	ENSP00000253159:p.Glu799Ala					ZNF236_ENST00000320610.9_Missense_Mutation_p.E801A	p.E799A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2594	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	799					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2396A>C	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292833	0.23564	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11385	2.78;2.94	5.23	4.07	0.47477	.	0.263343	0.35495	N	0.003164	T	0.12987	0.0315	M	0.65975	2.015	0.36641	D	0.876866	B	0.24483	0.104	B	0.19148	0.024	T	0.06110	-1.0845	10	0.33940	T	0.23	.	10.9976	0.47585	0.9261:0.0:0.0739:0.0	.	799	Q9UL36	ZN236_HUMAN	A	799	ENSP00000253159:E799A;ENSP00000444524:E799A	ENSP00000253159:E799A	E	+	2	0	ZNF236	72749368	1.000000	0.71417	0.353000	0.25747	0.228000	0.25075	4.800000	0.62524	0.941000	0.37499	0.460000	0.39030	GAG		0.622	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			113	547	0	0	0	1	0	113	547					C	74620380	A	C	74620380	3	2	79	1	0	0	0	0	1	0	0	0	17842	304	11	4	2450	4	ZNF236	18	74620380	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58770	74620380	3456868	18203	28520											
ZNF236	7776	broad.mit.edu	37	chr18	74649280	74649280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcctggacactgtcaCactcaacatcacctctcagg	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74649280C>T	ENST00000253159.8	+	26	4955	c.4757C>T	c.(4756-4758)aCa>aTa	p.T1586I	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1586					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACACTGTCACACTCAACATC	0.512																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(4756-4758)aCa>aTa		zinc finger protein 236							57	57	57					18																	74649280		2081	4214	6295	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74649280C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4757C>T	18.37:g.74649280C>T	ENSP00000253159:p.Thr1586Ile					ZNF236_ENST00000320610.9_Missense_Mutation_p.T1588I	p.T1586I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	26	4955	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1586					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.4757C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494537	0.44352	.	.	ENSG00000130856	ENST00000253159	T	0.10960	2.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	L	0.32530	0.975	0.34972	D	0.753266	D	0.76494	0.999	D	0.63488	0.915	T	0.02378	-1.1168	10	0.46703	T	0.11	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	1586	Q9UL36	ZN236_HUMAN	I	1586	ENSP00000253159:T1586I	ENSP00000253159:T1586I	T	+	2	0	ZNF236	72778268	1.000000	0.71417	0.337000	0.25536	0.961000	0.63080	6.460000	0.73518	2.752000	0.94435	0.557000	0.71058	ACA		0.512	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			29	122	0	0	0	1	0	29	122					T	74649280	C	T	74649280	3	4	79	1	0	0	0	0	1	0	0	0	17842	478	17	2	4859	2	ZNF236	18	74649280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28900	74649280	3427968	18204	28521											
MBP	4155	broad.mit.edu	37	chr18	74700865	74700865	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggggtggtgtgcgaggcgTcacctggaaagacacagaga	18	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74700865T>C	ENST00000397869.3	-	3	332	c.286A>G	c.(286-288)Acg>Gcg	p.T96A	MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000527041.1_Intron|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000354542.4_Intron|MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000355994.2_Missense_Mutation_p.T229A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000528160.1_Intron|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A			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)	GTGCGAGGCGTCACCTGGAAA	0.537																																					NSCLC(17;72 1131 19392)	ENST00000355994.2																			0				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						c.(685-687)Acg>Gcg		myelin basic protein							108	117	114					18																	74700865		2203	4300	6503	SO:0001583	missense	4155				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath	g.chr18:74700865T>C		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	ENST00000397869.3:c.286A>G	18.37:g.74700865T>C	ENSP00000380967:p.Thr96Ala					MBP_ENST00000382582.3_Missense_Mutation_p.T122A|MBP_ENST00000397865.5_Missense_Mutation_p.T96A|MBP_ENST00000579129.1_Missense_Mutation_p.T229A|MBP_ENST00000354542.4_Intron|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.T96A|MBP_ENST00000578193.1_Missense_Mutation_p.T96A|MBP_ENST00000528160.1_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.T229A|MBP_ENST00000397866.4_Missense_Mutation_p.T96A|MBP_ENST00000397875.3_Missense_Mutation_p.T106A|MBP_ENST00000526111.1_Missense_Mutation_p.T74A|MBP_ENST00000359645.3_Missense_Mutation_p.T122A	p.T229A	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	6	948	-		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	229					A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000397869.3	37	c.685A>G		.	.	.	.	.	.	.	.	.	.	T	18.35	3.604648	0.66445	.	.	ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114	.	.	.	4.34	3.1	0.35709	.	0.350057	0.26213	N	0.025670	T	0.53642	0.1809	L	0.40543	1.245	0.32076	N	0.593799	P;D;P;B;B	0.63046	0.804;0.992;0.544;0.199;0.199	P;D;B;B;B	0.76071	0.625;0.987;0.133;0.193;0.193	T	0.60005	-0.7347	9	0.72032	D	0.01	.	6.6358	0.22881	0.2966:0.0:0.0:0.7034	.	96;229;96;122;122	B7Z3Y6;P02686;P02686-6;P02686-4;P02686-3	.;MBP_HUMAN;.;.;.	A	122;229;106;96;96;122;96;74;96;40	.	ENSP00000348273:T229A	T	-	1	0	MBP	72829853	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.776000	0.47709	1.832000	0.53329	0.482000	0.46254	ACG		0.537	MBP-024	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000267964.1	NM_001025081		128	666	0	0	0	1	0	128	666					C	74700865	T	C	74700865	3	2	79	1	0	0	0	0	1	0	0	0	9400	1667	58	4	245	4	MBP	18	74700865	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	51585	74700865	3376383	18205	28522											
GALR1	2587	broad.mit.edu	37	chr18	74962940	74962940	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcgcggcgctcctcctccCtcagggtgtcccgcaacgcg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74962940C>A	ENST00000299727.3	+	1	436	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	146					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCCTCCTCCCTCAGGGTGTC	0.672																																						ENST00000299727.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(436-438)Ctc>Atc		galanin receptor 1							57	49	52					18																	74962940		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962940C>A	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.436C>A	18.37:g.74962940C>A	ENSP00000299727:p.Leu146Ile						p.L146I	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	436	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	146					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.436C>A	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	8.305	0.820857	0.16678	.	.	ENSG00000166573	ENST00000299727	T	0.71698	-0.59	4.49	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.157190	0.42821	N	0.000642	T	0.45796	0.1360	N	0.10916	0.065	0.39673	D	0.970781	B	0.12013	0.005	B	0.12156	0.007	T	0.24404	-1.0161	10	0.26408	T	0.33	.	6.7241	0.23346	0.3058:0.6095:0.0:0.0848	.	146	P47211	GALR1_HUMAN	I	146	ENSP00000299727:L146I	ENSP00000299727:L146I	L	+	1	0	GALR1	73091928	0.774000	0.28592	0.970000	0.41538	0.332000	0.28634	1.084000	0.30828	0.816000	0.34421	0.591000	0.81541	CTC		0.672	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			56	249	1	0	2.23044e-30	1	2.6157e-30	56	249					A	74962940	C	A	74962940	3	1	79	1	0	0	0	0	1	0	0	0	6255	681	24	3	438	3	GALR1	18	74962940	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262075	74962940	3114308	18206	28523											
SALL3	27164	broad.mit.edu	37	chr18	76757124	76757124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatctccgtcatccagaaCggcggcatcccccagctccc	9	18	2	2	rs375447289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:76757124C>T	ENST00000537592.2	+	3	3705	c.3705C>T	c.(3703-3705)aaC>aaT	p.N1235N	SALL3_ENST00000536229.3_Silent_p.N1030N|SALL3_ENST00000575389.2_Silent_p.N1163N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1235					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCATCCAGAACGGCGGCATCC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18619	0.0		0.0	False		,,,				2504	0.0					ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3088-3090)aaC>aaT		spalt-like transcription factor 3		C		1,4405	2.1+/-5.4	0,1,2202	107	99	102		3705	-6.6	0.3	18		102	0,8600		0,0,4300	no	coding-synonymous	SALL3	NM_171999.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1235/1301	76757124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76757124C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3705C>T	18.37:g.76757124C>T						SALL3_ENST00000537592.2_Silent_p.N1235N|SALL3_ENST00000575389.2_Silent_p.N1163N	p.N1030N			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	3	3799	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1235					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.3090C>T	CCDS12013.1																																																																																				0.617	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		169	670	0	0	0	1	0	169	670					T	76757124	C	T	76757124	2	4	79	1	0	0	0	0	0	0	0	1	13862	535	19	1		1	SALL3	18	76757124	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1794184	76757124	1320124	18207	28524											
ATP9B	374868	broad.mit.edu	37	chr18	77037156	77037156	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggaccagcactatcccagaGgaacttgggcgcctggtgta	13	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77037156G>T	ENST00000426216.2	+	13	1388	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	457					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)		CTATCCCAGAGGAACTTGGGC	0.453																																						ENST00000426216.2																			0				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						c.(1369-1371)gaG>gaT		ATPase, class II, type 9B							155	142	146					18																	77037156		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77037156G>T	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.1371G>T	18.37:g.77037156G>T	ENSP00000398076:p.Glu457Asp					ATP9B_ENST00000307671.7_Missense_Mutation_p.E457D	p.E457D	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	13	1388	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	457					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1371G>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	g	19.56	3.850651	0.71719	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.94723	-3.5;-3.5	5.4	-1.31	0.09230	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.972;0.987	D	0.94917	0.8070	10	0.87932	D	0	.	11.5903	0.50941	0.6405:0.0:0.3595:0.0	.	457;457	O43861;O43861-2	ATP9B_HUMAN;.	D	457	ENSP00000398076:E457D;ENSP00000304500:E457D	ENSP00000304500:E457D	E	+	3	2	ATP9B	75138144	0.711000	0.27906	0.931000	0.37212	0.900000	0.52787	-0.034000	0.12225	-0.207000	0.10187	-0.119000	0.15052	GAG		0.453	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		87	434	1	0	5.42381e-49	1	6.70277e-49	87	434					T	77037156	G	T	77037156	3	4	79	1	0	0	0	0	1	0	0	0	1200	991	35	3	1421	3	ATP9B	18	77037156	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	280032	77037156	1040092	18208	28525											
ATP9B	374868	broad.mit.edu	37	chr18	77090061	77090061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaagggcgctgacgtggCcatgtctcctatcgtgcagt	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77090061C>T	ENST00000426216.2	+	17	2002	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V|ATP9B_ENST00000543761.1_5'Flank	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	662					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)		GCTGACGTGGCCATGTCTCCT	0.468																																						ENST00000426216.2																			0				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						c.(1984-1986)gCc>gTc		ATPase, class II, type 9B							159	136	144					18																	77090061		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77090061C>T	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.1985C>T	18.37:g.77090061C>T	ENSP00000398076:p.Ala662Val					ATP9B_ENST00000307671.7_Missense_Mutation_p.A662V	p.A662V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	17	2002	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	662					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1985C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262139	0.01445	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.68765	-0.35;-0.35	5.45	3.61	0.41365	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.106419	0.64402	N	0.000006	T	0.27866	0.0686	N	0.00500	-1.43	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38243	-0.9670	10	0.02654	T	1	.	11.2144	0.48817	0.0:0.8474:0.0:0.1526	.	662;662	O43861;O43861-2	ATP9B_HUMAN;.	V	662	ENSP00000398076:A662V;ENSP00000304500:A662V	ENSP00000304500:A662V	A	+	2	0	ATP9B	75191049	0.006000	0.16342	0.387000	0.26183	0.021000	0.10359	0.127000	0.15790	0.621000	0.30232	0.655000	0.94253	GCC		0.468	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		46	269	0	0	0	1	0	46	269					T	77090061	C	T	77090061	3	4	79	1	0	0	0	0	1	0	0	0	1200	739	26	2	2051	2	ATP9B	18	77090061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52905	77090061	987187	18209	28526											
ATP9B	374868	broad.mit.edu	37	chr18	77133958	77133958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcgtccacgtggtggCcatctccttcaccgcactga	10	14	2	2	rs140981029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77133958C>T	ENST00000426216.2	+	28	3148	c.3131C>T	c.(3130-3132)gCc>gTc	p.A1044V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1044					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)		CACGTGGTGGCCATCTCCTTC	0.597																																						ENST00000426216.2																			0				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						c.(3130-3132)gCc>gTc		ATPase, class II, type 9B		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	155	118	130		3131	4.3	1	18	dbSNP_134	130	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ATP9B	NM_198531.3	64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	1044/1148	77133958	3,13003	2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77133958C>T	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.3131C>T	18.37:g.77133958C>T	ENSP00000398076:p.Ala1044Val					ATP9B_ENST00000307671.7_Missense_Mutation_p.A1044V|ATP9B_ENST00000543761.1_Missense_Mutation_p.A365V	p.A1044V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	28	3148	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	1044					O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.3131C>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044220	0.93685	2.27E-4	2.33E-4	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	D;D;D	0.88975	-2.45;-2.45;-2.45	5.19	4.29	0.51040	.	0.110918	0.64402	D	0.000011	D	0.94647	0.8274	M	0.90595	3.13	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.66497	0.928;0.944	D	0.95051	0.8187	10	0.72032	D	0.01	.	12.8963	0.58101	0.0:0.9185:0.0:0.0815	.	1044;1044	O43861;O43861-2	ATP9B_HUMAN;.	V	1044;1044;365	ENSP00000398076:A1044V;ENSP00000304500:A1044V;ENSP00000442015:A365V	ENSP00000304500:A1044V	A	+	2	0	ATP9B	75234946	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.732000	0.68563	1.116000	0.41820	0.655000	0.94253	GCC		0.597	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		77	368	0	0	0	1	0	77	368					T	77133958	C	T	77133958	3	4	79	1	0	0	0	0	1	0	0	0	1200	739	26	2	3241	2	ATP9B	18	77133958	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43897	77133958	943290	18210	28527											
NFATC1	4772	broad.mit.edu	37	chr18	77170796	77170796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgtgcctgagcccggCcagcagcctgtcctcccgga	11	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77170796C>T	ENST00000427363.2	+	2	521	c.521C>T	c.(520-522)gCc>gTc	p.A174V	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A174V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	174	Trans-activation domain A (TAD-A).				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)	CTGAGCCCGGCCAGCAGCCTG	0.662																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(520-522)gCc>gTc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							40	44	43					18																	77170796		2203	4299	6502	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170796C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.521C>T	18.37:g.77170796C>T	ENSP00000389377:p.Ala174Val					NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.A174V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A161V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A174V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A161V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A161V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.A174V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A161V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A174V	p.A174V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	890	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	174			Trans-activation domain A (TAD-A).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.521C>T		.	.	.	.	.	.	.	.	.	.	C	27.9	4.877003	0.91664	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.78816	-1.21;-1.21;-1.21	4.46	4.46	0.54185	.	0.057048	0.64402	D	0.000001	D	0.88130	0.6354	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.994;0.994;0.997;0.999;0.999;0.999;0.994	P;P;D;D;D;D;P	0.71184	0.856;0.856;0.917;0.972;0.972;0.972;0.856	D	0.90098	0.4182	10	0.72032	D	0.01	-31.3227	17.2844	0.87137	0.0:1.0:0.0:0.0	.	161;161;174;174;174;161;174	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	174;174;174;161;161;138	ENSP00000253506:A174V;ENSP00000442435:A174V;ENSP00000327850:A161V	ENSP00000253506:A174V	A	+	2	0	NFATC1	75271784	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.039000	0.76544	2.293000	0.77203	0.561000	0.74099	GCC		0.662	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		85	350	0	0	0	1	0	85	350					T	77170796	C	T	77170796	3	4	79	1	0	0	0	0	1	0	0	0	10403	739	26	2	619	2	NFATC1	18	77170796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36838	77170796	906452	18211	28528											
NFATC1	4772	broad.mit.edu	37	chr18	77171307	77171307	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accaccctggagcagccgccCtcagtggcgctcaaggtgga	13	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171307C>A	ENST00000427363.2	+	2	1032	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000253506.5_Silent_p.P344P|NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000329101.4_Silent_p.P331P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	344					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)	AGCAGCCGCCCTCAGTGGCGC	0.687																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1030-1032)ccC>ccA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							28	29	29					18																	77171307		2203	4295	6498	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171307C>A	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.1032C>A	18.37:g.77171307C>A						NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.P344P|NFATC1_ENST00000329101.4_Silent_p.P331P|NFATC1_ENST00000591814.1_Silent_p.P344P|NFATC1_ENST00000586434.1_Silent_p.P331P|NFATC1_ENST00000318065.5_Silent_p.P331P|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.P344P|NFATC1_ENST00000592223.1_Silent_p.P331P|NFATC1_ENST00000427363.2_Silent_p.P344P	p.P344P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1401	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	344					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.1032C>A																																																																																					0.687	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		54	280	1	0	1.32667e-27	1	1.53764e-27	54	280					A	77171307	C	A	77171307	2	1	79	1	0	0	0	0	0	0	0	1	10403	668	24	3		3	NFATC1	18	77171307	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511	77171307	905941	18212	28529											
NFATC1	4772	broad.mit.edu	37	chr18	77171438	77171438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgcgaccagtacctggCggtgccgcagcacccctacc	10	18	1	0	rs199736877		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171438C>T	ENST00000427363.2	+	2	1163	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A388V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	388					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)	CAGTACCTGGCGGTGCCGCAG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		5682	0.0		0.0	False		,,,				2504	0.0				GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1162-1164)gCg>gTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1		C	VAL/ALA,VAL/ALA,,VAL/ALA,VAL/ALA	0,4378		0,0,2189	13	15	14		1163,1124,,1124,1163	4.8	0.7	18		14	1,8539		0,1,4269	no	missense,missense,intron,missense,missense	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	64,64,,64,64	0,1,6458	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,,benign,benign	388/826,375/931,,375/813,388/717	77171438	1,12917	2189	4270	6459	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171438C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1163C>T	18.37:g.77171438C>T	ENSP00000389377:p.Ala388Val					NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.A388V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A375V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A388V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A375V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A375V|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.A388V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A375V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A388V	p.A388V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1532	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	388					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1163C>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.93	1.489050	0.26686	0.0	1.17E-4	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.14640	2.89;2.49;2.72	4.81	4.81	0.61882	.	0.320352	0.33364	N	0.004996	T	0.06826	0.0174	N	0.14661	0.345	0.80722	D	1	P;P;P;P;P;P;P	0.39782	0.688;0.688;0.688;0.477;0.477;0.624;0.688	B;B;B;B;B;B;B	0.27500	0.08;0.08;0.05;0.08;0.08;0.067;0.05	T	0.33240	-0.9876	10	0.08179	T	0.78	-15.3254	18.0734	0.89419	0.0:1.0:0.0:0.0	.	375;375;388;388;388;375;388	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	388;388;388;375;375;352	ENSP00000253506:A388V;ENSP00000442435:A388V;ENSP00000327850:A375V	ENSP00000253506:A388V	A	+	2	0	NFATC1	75272426	1.000000	0.71417	0.716000	0.30569	0.700000	0.40528	4.620000	0.61226	2.497000	0.84241	0.591000	0.81541	GCG		0.706	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		34	120	0	0	0	1	0	34	120					T	77171438	C	T	77171438	3	4	79	1	0	0	0	0	1	0	0	0	10403	768	27	1	1261	1	NFATC1	18	77171438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131	77171438	905810	18213	28530											
NFATC1	4772	broad.mit.edu	37	chr18	77193710	77193710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccggggggccgtgaaggCgtcggccggaggacacccca	18	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77193710C>T	ENST00000427363.2	+	3	1358	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000253506.5_Missense_Mutation_p.A453V|NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	453	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GCCGTGAAGGCGTCGGCCGGA	0.632																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(1357-1359)gCg>gTg		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							53	55	54					18																	77193710		2203	4299	6502	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77193710C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1358C>T	18.37:g.77193710C>T	ENSP00000389377:p.Ala453Val					NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.A453V|NFATC1_ENST00000329101.4_Missense_Mutation_p.A440V|NFATC1_ENST00000591814.1_Missense_Mutation_p.A453V|NFATC1_ENST00000586434.1_Missense_Mutation_p.A440V|NFATC1_ENST00000318065.5_Missense_Mutation_p.A440V|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.A453V|NFATC1_ENST00000592223.1_Missense_Mutation_p.A440V|NFATC1_ENST00000427363.2_Missense_Mutation_p.A453V	p.A453V	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	3	1727	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	453			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1358C>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925889	0.92319	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T;T	0.46063	0.88;0.88;0.88;0.91	4.49	4.49	0.54785	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P	0.61003	0.647;0.647;0.73;0.802;0.802;0.882;0.73	T	0.70916	-0.4742	10	0.87932	D	0	-12.6612	17.1628	0.86808	0.0:1.0:0.0:0.0	.	440;440;453;453;453;440;453	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	V	453;453;453;440;440;417	ENSP00000253506:A453V;ENSP00000442435:A453V;ENSP00000327850:A440V;ENSP00000389377:A440V	ENSP00000253506:A453V	A	+	2	0	NFATC1	75294698	1.000000	0.71417	0.920000	0.36463	0.681000	0.39784	7.334000	0.79224	2.024000	0.59613	0.561000	0.74099	GCG		0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		149	466	0	0	0	1	0	149	466					T	77193710	C	T	77193710	3	4	79	1	0	0	0	0	1	0	0	0	10403	768	27	1	1460	1	NFATC1	18	77193710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22272	77193710	883538	18214	28531											
NFATC1	4772	broad.mit.edu	37	chr18	77246678	77246678	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctggtctcgaacactcGctctgccccagcagcccctc	7	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77246678G>A	ENST00000427363.2	+	9	2523	c.2523G>A	c.(2521-2523)tcG>tcA	p.S841S	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000545796.1_Silent_p.S369S|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000329101.4_Silent_p.S828S			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	841	Trans-activation domain B (TAD-B).				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)	TCGAACACTCGCTCTGCCCCA	0.751																																					GBM(151;1210 2593 28719 45011)	ENST00000329101.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2482-2484)tcG>tcA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							21	21	21					18																	77246678		2180	4277	6457	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77246678G>A	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.2523G>A	18.37:g.77246678G>A						NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Silent_p.S369S|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Silent_p.S841S	p.S828S	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	9	2540	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	841			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.2484G>A																																																																																					0.751	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		32	148	0	0	0	1	0	32	148					A	77246678	G	A	77246678	2	1	79	1	0	0	0	0	0	0	0	1	10403	1074	38	1		1	NFATC1	18	77246678	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52968	77246678	830570	18215	28532											
NFATC1	4772	broad.mit.edu	37	chr18	77287542	77287542	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagtaaatgaaataataCgaaatgacctctccagcacg	6	9	1	2	rs372768753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77287542C>T	ENST00000427363.2	+	10	2797	c.2797C>T	c.(2797-2799)Cga>Tga	p.R933*	NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000329101.4_Nonsense_Mutation_p.R920*|NFATC1_ENST00000590172.1_3'UTR			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	933	Trans-activation domain B (TAD-B).				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)	TGAAATAATACGAAATGACCT	0.428																																					GBM(151;1210 2593 28719 45011)	ENST00000329101.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(2758-2760)Cga>Tga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							112	114	113					18																	77287542		2203	4300	6503	SO:0001587	stop_gained	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77287542C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2797C>T	18.37:g.77287542C>T	ENSP00000389377:p.Arg933*					NFATC1_ENST00000590172.1_3'UTR|NFATC1_ENST00000397790.2_3'UTR|NFATC1_ENST00000586434.1_Nonsense_Mutation_p.R690*|NFATC1_ENST00000318065.5_3'UTR|NFATC1_ENST00000253506.5_3'UTR|NFATC1_ENST00000545796.1_Nonsense_Mutation_p.R461*|NFATC1_ENST00000542384.1_Nonsense_Mutation_p.R703*|NFATC1_ENST00000427363.2_Nonsense_Mutation_p.R933*	p.R920*	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	10	2814	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	933			Trans-activation domain B (TAD-B).		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Nonsense_Mutation	SNP	ENST00000427363.2	37	c.2758C>T		.	.	.	.	.	.	.	.	.	.	c	18.98	3.738555	0.69304	.	.	ENSG00000131196	ENST00000318065;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000397794	.	.	.	4.93	1.79	0.24919	.	0.481200	0.17773	N	0.162505	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-0.8441	5.9129	0.19039	0.2614:0.5513:0.0:0.1874	.	.	.	.	X	933;703;920;461;897	.	ENSP00000316553:R933X	R	+	1	2	NFATC1	75388530	1.000000	0.71417	0.020000	0.16555	0.438000	0.31896	1.806000	0.38892	0.480000	0.27534	0.580000	0.79431	CGA		0.428	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		30	315	0	0	0	1	0	30	315					T	77287542	C	T	77287542	4	4	79	1	0	0	0	0	0	1	0	0	10403	528	19	1	2986	1	NFATC1	18	77287542	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40864	77287542	789706	18216	28533											
CTDP1	9150	broad.mit.edu	37	chr18	77513682	77513682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagctgaatgaagaggaCgccgccagcgagtccagcag	15	10	0	3	rs112322343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77513682C>T	ENST00000299543.7	+	13	2925	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	926					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)		ATGAAGAGGACGCCGCCAGCG	0.627																																						ENST00000299543.7																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(2776-2778)gaC>gaT		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	49	51	50		2421,2778,	-6	0	18	dbSNP_132	50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,utr-3	CTDP1	NM_001202504.1,NM_004715.4,NM_048368.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	807/843,926/962,	77513682	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77513682C>T	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.2778C>T	18.37:g.77513682C>T						CTDP1_ENST00000075430.7_3'UTR	p.D926D	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	13	2925	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	926					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	ENST00000299543.7	37	c.2778C>T	CCDS12017.1																																																																																				0.627	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		53	193	0	0	0	1	0	53	193					T	77513682	C	T	77513682	2	4	79	1	0	0	0	0	0	0	0	1	4013	535	19	1		1	CTDP1	18	77513682	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226140	77513682	563566	18217	28534											
KCNG2	26251	broad.mit.edu	37	chr18	77659147	77659147	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccgagagcaagtgCgccttcctgcgcgcgccact	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659147C>T	ENST00000316249.3	+	2	732	c.732C>T	c.(730-732)tgC>tgT	p.C244C	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	244					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)		AGAGCAAGTGCGCCTTCCTGC	0.677																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(730-732)tgC>tgT		potassium voltage-gated channel, subfamily G, member 2							50	43	45					18																	77659147		2202	4300	6502	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659147C>T	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.732C>T	18.37:g.77659147C>T						KCNG2_ENST00000590307.1_3'UTR	p.C244C	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	732	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	244						Silent	SNP	ENST00000316249.3	37	c.732C>T	CCDS12019.1																																																																																				0.677	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		20	111	0	0	0	1	0	20	111					T	77659147	C	T	77659147	2	4	79	1	0	0	0	0	0	0	0	1	8058	776	27	1		1	KCNG2	18	77659147	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145465	77659147	418101	18218	28535											
KCNG2	26251	broad.mit.edu	37	chr18	77659170	77659170	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcgcgcgccactcaAcatcattgacatcctggcgc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659170A>T	ENST00000316249.3	+	2	755	c.755A>T	c.(754-756)aAc>aTc	p.N252I	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	252					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)		GCGCCACTCAACATCATTGAC	0.682																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(754-756)aAc>aTc		potassium voltage-gated channel, subfamily G, member 2							39	37	38					18																	77659170		2202	4300	6502	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659170A>T	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.755A>T	18.37:g.77659170A>T	ENSP00000315654:p.Asn252Ile					KCNG2_ENST00000590307.1_3'UTR	p.N252I	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	755	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	252						Missense_Mutation	SNP	ENST00000316249.3	37	c.755A>T	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017956	0.54576	.	.	ENSG00000178342	ENST00000316249	D	0.99245	-5.62	3.6	2.4	0.29515	Ion transport (1);	0.128701	0.50627	U	0.000102	D	0.99524	0.9830	H	0.97214	3.96	0.36120	D	0.845401	D	0.59767	0.986	D	0.68192	0.956	D	0.99433	1.0936	10	0.87932	D	0	.	9.6117	0.39668	0.8154:0.1846:0.0:0.0	.	252	Q9UJ96	KCNG2_HUMAN	I	252	ENSP00000315654:N252I	ENSP00000315654:N252I	N	+	2	0	KCNG2	75760158	1.000000	0.71417	0.475000	0.27278	0.541000	0.35023	6.203000	0.72137	0.446000	0.26666	0.338000	0.21704	AAC		0.682	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		31	122	0	0	0	1	0	31	122					T	77659170	A	T	77659170	3	4	79	1	0	0	0	0	1	0	0	0	8058	43	2	5	761	5	KCNG2	18	77659170	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23	77659170	418078	18219	28536											
KCNG2	26251	broad.mit.edu	37	chr18	77659486	77659486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgacttctccagcgtgccCgccagctattggtgggccgt	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659486C>T	ENST00000316249.3	+	2	1071	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	357					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)		CCAGCGTGCCCGCCAGCTATT	0.706																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1069-1071)ccC>ccT		potassium voltage-gated channel, subfamily G, member 2							24	25	25					18																	77659486		2201	4298	6499	SO:0001819	synonymous_variant	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659486C>T	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.1071C>T	18.37:g.77659486C>T						KCNG2_ENST00000590307.1_3'UTR	p.P357P	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1071	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	357						Silent	SNP	ENST00000316249.3	37	c.1071C>T	CCDS12019.1																																																																																				0.706	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		26	196	0	0	0	1	0	26	196					T	77659486	C	T	77659486	2	4	79	1	0	0	0	0	0	0	0	1	8058	639	23	1		1	KCNG2	18	77659486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	316	77659486	417762	18220	28537											
KCNG2	26251	broad.mit.edu	37	chr18	77659752	77659752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgaggacagctcgcaggGccccgacagcgcgggcctgg	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659752G>A	ENST00000316249.3	+	2	1337	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	446					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)		AGCTCGCAGGGCCCCGACAGC	0.761																																						ENST00000316249.3																			0				breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18						c.(1336-1338)gGc>gAc		potassium voltage-gated channel, subfamily G, member 2							7	9	8					18																	77659752		2113	4081	6194	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659752G>A	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.1337G>A	18.37:g.77659752G>A	ENSP00000315654:p.Gly446Asp					KCNG2_ENST00000590307.1_3'UTR	p.G446D	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	1337	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	446						Missense_Mutation	SNP	ENST00000316249.3	37	c.1337G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	g	5.131	0.209690	0.09757	.	.	ENSG00000178342	ENST00000316249	D	0.97209	-4.29	3.12	-0.94	0.10405	.	681.941000	0.00166	N	0.000002	D	0.90373	0.6987	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83394	0.0019	10	0.35671	T	0.21	.	1.1096	0.01701	0.4624:0.1736:0.2081:0.156	.	446	Q9UJ96	KCNG2_HUMAN	D	446	ENSP00000315654:G446D	ENSP00000315654:G446D	G	+	2	0	KCNG2	75760740	0.756000	0.28383	0.000000	0.03702	0.078000	0.17371	0.318000	0.19504	-0.038000	0.13624	0.187000	0.17357	GGC		0.761	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		28	105	0	0	0	1	0	28	105					A	77659752	G	A	77659752	3	1	79	1	0	0	0	0	1	0	0	0	8058	1203	42	2	1343	2	KCNG2	18	77659752	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	266	77659752	417496	18221	28538											
PQLC1	80148	broad.mit.edu	37	chr18	77679208	77679208	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctccgtggactggtggCggtggttgcggtaaagctgg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77679208C>T	ENST00000397778.2	-	5	766	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	195	PQ-loop 2.					integral component of membrane (GO:0016021)				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)		GGACTGGTGGCGGTGGTTGCG	0.602																																						ENST00000397778.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(583-585)cGc>cAc		PQ loop repeat containing 1							59	57	58					18																	77679208		2203	4299	6502	SO:0001583	missense	80148					integral to membrane		g.chr18:77679208C>T	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.584G>A	18.37:g.77679208C>T	ENSP00000380880:p.Arg195His					PQLC1_ENST00000357575.4_Missense_Mutation_p.R177H|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000409073.1_Missense_Mutation_p.R112H	p.R195H	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	5	766	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	195			PQ-loop 2.		B7Z7D9|G5E989|Q9H6D0	Missense_Mutation	SNP	ENST00000397778.2	37	c.584G>A	CCDS12020.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533771	0.45073	.	.	ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575	D;D;D	0.98762	-5.12;-5.12;-5.12	5.1	0.718	0.18202	.	0.270350	0.37577	N	0.002023	D	0.95796	0.8632	L	0.53617	1.68	0.31935	N	0.611672	B;B	0.15473	0.013;0.005	B;B	0.14578	0.011;0.008	D	0.92252	0.5809	10	0.49607	T	0.09	-11.2406	2.861	0.05586	0.2073:0.3046:0.0:0.4881	.	195;177	Q8N2U9;G5E989	PQLC1_HUMAN;.	H	195;112;177	ENSP00000380880:R195H;ENSP00000387221:R112H;ENSP00000350188:R177H	ENSP00000350188:R177H	R	-	2	0	PQLC1	75780196	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	1.270000	0.33086	0.552000	0.29026	0.655000	0.94253	CGC		0.602	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		42	192	0	0	0	1	0	42	192					T	77679208	C	T	77679208	3	4	79	1	0	0	0	0	1	0	0	0	12465	768	27	1	239	1	PQLC1	18	77679208	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19456	77679208	398040	18222	28539											
C18orf22	79863	broad.mit.edu	37	chr18	77796699	77796699	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtatgaaagtccttccttgGgttctcactcggtgagtata	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77796699G>T	ENST00000306735.5	+	2	328	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	RBFA_ENST00000586847.1_3'UTR|RP11-795F19.5_ENST00000569722.1_Intron|TXNL4A_ENST00000592957.1_5'Flank|TXNL4A_ENST00000585474.1_5'Flank|RBFA_ENST00000262197.7_Missense_Mutation_p.G64C|TXNL4A_ENST00000589926.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	64					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCCTTCCTTGGGTTCTCACTC	0.378																																						ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(190-192)Ggt>Tgt		ribosome binding factor A (putative)							111	107	108					18																	77796699		2203	4300	6503	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77796699G>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.190G>T	18.37:g.77796699G>T	ENSP00000305696:p.Gly64Cys					RBFA_ENST00000262197.7_Missense_Mutation_p.G64C|RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR	p.G64C	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			2	328	+			64					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.190G>T	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081946	0.36758	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.42513	0.97;0.97	4.04	3.17	0.36434	.	0.115168	0.39083	N	0.001479	T	0.52256	0.1723	L	0.49126	1.545	0.50813	D	0.999899	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.963	T	0.52034	-0.8629	10	0.87932	D	0	-7.0185	6.2172	0.20661	0.2242:0.0:0.7758:0.0	.	64;64	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	C	64	ENSP00000262197:G64C;ENSP00000305696:G64C	ENSP00000262197:G64C	G	+	1	0	RBFA	75897687	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.016000	0.40971	0.909000	0.36697	0.561000	0.74099	GGT		0.378	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		31	148	1	0	2.75727e-19	1	3.0731e-19	31	148					T	77796699	G	T	77796699	3	4	79	1	0	0	0	0	1	0	0	0	1905	1232	43	3	196	3	C18orf22	18	77796699	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117491	77796699	280549	18223	28540											
C18orf22	79863	broad.mit.edu	37	chr18	77798535	77798535	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagacttctcagcctgcCgagcgtactggaagacaacg	10	14	1	2	rs200502345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77798535C>T	ENST00000306735.5	+	4	547	c.409C>T	c.(409-411)Cga>Tga	p.R137*	RP11-795F19.5_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Nonsense_Mutation_p.R137*|RP11-795F19.5_ENST00000564012.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	137					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCAGCCTGCCGAGCGTACTG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		17419	0.001		0.0	False		,,,				2504	0.0					ENST00000306735.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						c.(409-411)Cga>Tga		ribosome binding factor A (putative)							99	98	98					18																	77798535		2203	4300	6503	SO:0001587	stop_gained	79863				rRNA processing	mitochondrion		g.chr18:77798535C>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.409C>T	18.37:g.77798535C>T	ENSP00000305696:p.Arg137*					RBFA_ENST00000262197.7_Nonsense_Mutation_p.R137*|RBFADN_ENST00000569722.1_Intron	p.R137*	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN			4	547	+			137					Q6PF07|Q8WZ65|Q9H776	Nonsense_Mutation	SNP	ENST00000306735.5	37	c.409C>T	CCDS12021.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	38	7.251414	0.98164	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	.	.	.	4.68	4.68	0.58851	.	0.000000	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.3279	16.3814	0.83462	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000262197:R137X	R	+	1	2	RBFA	75899523	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	4.188000	0.58351	2.144000	0.66660	0.561000	0.74099	CGA		0.542	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2	NM_024805		42	463	0	0	0	1	0	42	463					T	77798535	C	T	77798535	4	4	79	1	0	0	0	0	0	1	0	0	1905	644	23	1	423	1	C18orf22	18	77798535	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1836	77798535	278713	18224	28541											
ADNP2	22850	broad.mit.edu	37	chr18	77896474	77896474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaagaagcaatttcttaaaGattatttccataagaaacca	4	6	1	3	rs373960178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896474G>T	ENST00000262198.4	+	4	3633	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1060					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)		ATTTCTTAAAGATTATTTCCA	0.348																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3178-3180)Gat>Tat		ADNP homeobox 2							44	49	47					18																	77896474		2200	4297	6497	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896474G>T	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.3178G>T	18.37:g.77896474G>T	ENSP00000262198:p.Asp1060Tyr						p.D1060Y	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3633	+		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)	1060					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3178G>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404616	0.42613	.	.	ENSG00000101544	ENST00000262198	D	0.92199	-2.99	4.75	4.75	0.60458	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.159508	0.43579	D	0.000542	D	0.93719	0.7993	L	0.54323	1.7	0.39665	D	0.970677	D	0.76494	0.999	D	0.69479	0.964	D	0.93066	0.6478	9	.	.	.	-27.2568	11.4188	0.49969	0.0823:0.0:0.9177:0.0	.	1060	Q6IQ32	ADNP2_HUMAN	Y	1060	ENSP00000262198:D1060Y	.	D	+	1	0	ADNP2	75997465	0.999000	0.42202	1.000000	0.80357	0.889000	0.51656	3.598000	0.54038	2.482000	0.83794	0.561000	0.74099	GAT		0.348	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		51	253	1	0	3.21987e-24	1	3.67739e-24	51	253					T	77896474	G	T	77896474	3	4	79	1	0	0	0	0	1	0	0	0	324	942	33	3	3188	3	ADNP2	18	77896474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	97939	77896474	180774	18225	28542											
ADNP2	22850	broad.mit.edu	37	chr18	77896614	77896614	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaataaaaaatcacaaGccttctgtacttttaggctt	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896614G>T	ENST00000262198.4	+	4	3773	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1106					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)		AAAATCACAAGCCTTCTGTAC	0.303																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(3316-3318)aaG>aaT		ADNP homeobox 2							30	33	32					18																	77896614		2176	4278	6454	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77896614G>T	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.3318G>T	18.37:g.77896614G>T	ENSP00000262198:p.Lys1106Asn						p.K1106N	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	3773	+		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)	1106					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.3318G>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447950	0.43429	.	.	ENSG00000101544	ENST00000262198	D	0.91686	-2.89	4.43	0.386	0.16254	Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.92522	0.7625	L	0.55743	1.74	0.34969	D	0.75298	D	0.67145	0.996	D	0.63793	0.918	D	0.91527	0.5239	9	.	.	.	-26.3007	9.0574	0.36414	0.5522:0.0:0.4478:0.0	.	1106	Q6IQ32	ADNP2_HUMAN	N	1106	ENSP00000262198:K1106N	.	K	+	3	2	ADNP2	75997605	0.731000	0.28111	0.999000	0.59377	0.978000	0.69477	-0.344000	0.07780	0.121000	0.18284	0.561000	0.74099	AAG		0.303	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		33	128	1	0	3.99451e-17	1	4.40333e-17	33	128					T	77896614	G	T	77896614	3	4	79	1	0	0	0	0	1	0	0	0	324	962	34	3	3328	3	ADNP2	18	77896614	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	140	77896614	180634	18226	28543											
MIER2	54531	broad.mit.edu	37	chr19	308850	308850	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagccgcgtctgctgggCgaagtagtcgtagcgctccg	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:308850C>T	ENST00000264819.4	-	11	1070	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	354					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)		GTCTGCTGGGCGAAGTAGTCG	0.677																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1060-1062)Gcc>Acc		mesoderm induction early response 1, family member 2							59	54	55					19																	308850		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:308850C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1060G>A	19.37:g.308850C>T	ENSP00000264819:p.Ala354Thr						p.A354T	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1070	-		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)	354					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.1060G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568703	0.45798	.	.	ENSG00000105556	ENST00000264819	T	0.29397	1.57	4.49	1.07	0.20283	.	0.498482	0.16667	N	0.204525	T	0.13670	0.0331	N	0.12637	0.245	0.22389	N	0.99915	B	0.18310	0.027	B	0.14578	0.011	T	0.17440	-1.0369	10	0.36615	T	0.2	-10.9915	3.6206	0.08094	0.2274:0.1757:0.0:0.5968	.	354	Q8N344	MIER2_HUMAN	T	354	ENSP00000264819:A354T	ENSP00000264819:A354T	A	-	1	0	MIER2	259850	1.000000	0.71417	0.987000	0.45799	0.960000	0.62799	3.052000	0.49893	-0.094000	0.12374	0.457000	0.33378	GCC		0.677	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		45	355	0	0	0	1	0	45	355					T	308850	C	T	308850	3	4	79	1	0	0	0	0	1	0	0	0	9622	768	27	1	593	1	MIER2	19	308850	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		308850	58820133	18227	28544											
THEG	51298	broad.mit.edu	37	chr19	371285	371285	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgactcgacgctctgtattCcagggaggaccgaggaatgg	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:371285C>T	ENST00000342640.4	-	6	715	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	THEG_ENST00000346878.2_Missense_Mutation_p.E201K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	225					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGTATTCCAGGGAGGAC	0.632																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(673-675)Gaa>Aaa		theg spermatid protein							113	117	116					19																	371285		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371285C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.673G>A	19.37:g.371285C>T	ENSP00000340088:p.Glu225Lys					THEG_ENST00000346878.2_Missense_Mutation_p.E201K	p.E225K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	715	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	225					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.673G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546472	0.45383	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.24538	1.85;1.85	4.11	3.01	0.34805	.	10.291900	0.00166	N	0.000000	T	0.28928	0.0718	L	0.27053	0.805	0.09310	N	1	P;P	0.49559	0.827;0.925	P;P	0.49597	0.52;0.616	T	0.27806	-1.0063	10	0.23891	T	0.37	-21.2135	9.5418	0.39257	0.0:0.7843:0.2157:0.0	.	201;225	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	K	225;201	ENSP00000340088:E225K;ENSP00000264820:E201K	ENSP00000340088:E225K	E	-	1	0	THEG	322285	0.167000	0.22975	0.013000	0.15412	0.044000	0.14063	1.548000	0.36201	1.002000	0.39104	0.655000	0.94253	GAA		0.632	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			229	882	0	0	0	1	0	229	882					T	371285	C	T	371285	3	4	79	1	0	0	0	0	1	0	0	0	15909	864	30	2	478	2	THEG	19	371285	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62435	371285	58757698	18228	28545											
THEG	51298	broad.mit.edu	37	chr19	372691	372691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacagttcctccacgcggCgggacaccgctatgcaaaat	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:372691C>T	ENST00000342640.4	-	5	617	c.575G>A	c.(574-576)cGc>cAc	p.R192H	THEG_ENST00000346878.2_Missense_Mutation_p.R168H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	192					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCACGCGGCGGGACACCGC	0.552																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(574-576)cGc>cAc		theg spermatid protein							117	100	106					19																	372691		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:372691C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.575G>A	19.37:g.372691C>T	ENSP00000340088:p.Arg192His					THEG_ENST00000346878.2_Missense_Mutation_p.R168H	p.R192H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	617	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	192					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.575G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076990	0.20227	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19105	2.17;2.23	3.31	-3.36	0.04913	.	2.622300	0.01419	N	0.014297	T	0.32585	0.0834	M	0.65498	2.005	0.09310	N	1	D;D	0.64830	0.986;0.994	P;P	0.54499	0.674;0.754	T	0.40961	-0.9535	10	0.56958	D	0.05	-11.6402	4.0262	0.09688	0.0:0.3076:0.3472:0.3452	.	168;192	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	H	192;168	ENSP00000340088:R192H;ENSP00000264820:R168H	ENSP00000340088:R192H	R	-	2	0	THEG	323691	0.001000	0.12720	0.005000	0.12908	0.092000	0.18411	-1.869000	0.01643	-0.528000	0.06366	0.561000	0.74099	CGC		0.552	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			36	230	0	0	0	1	0	36	230					T	372691	C	T	372691	3	4	79	1	0	0	0	0	1	0	0	0	15909	768	27	1	580	1	THEG	19	372691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1406	372691	58756292	18229	28546											
SHC2	25759	broad.mit.edu	37	chr19	436418	436418	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcgacgtaggccacgTaatccgtcatgtcctggggg	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:436418T>C	ENST00000264554.6	-	6	787	c.788A>G	c.(787-789)tAc>tGc	p.Y263C		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	263	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGGCCACGTAATCCGTCAT	0.716																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(787-789)tAc>tGc		SHC (Src homology 2 domain containing) transforming protein 2							24	29	27					19																	436418		1904	4098	6002	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:436418T>C	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.788A>G	19.37:g.436418T>C	ENSP00000264554:p.Tyr263Cys						p.Y263C	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	787	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	263			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.788A>G	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952042	0.73787	.	.	ENSG00000129946	ENST00000264554	T	0.15372	2.43	4.67	4.67	0.58626	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87038	2.855	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.55854	-0.8075	10	0.87932	D	0	-31.1631	13.588	0.61942	0.0:0.0:0.0:1.0	.	263	P98077	SHC2_HUMAN	C	263	ENSP00000264554:Y263C	ENSP00000264554:Y263C	Y	-	2	0	SHC2	387418	1.000000	0.71417	0.860000	0.33809	0.929000	0.56500	7.432000	0.80349	1.887000	0.54652	0.352000	0.21897	TAC		0.716	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			67	239	0	0	0	1	0	67	239					C	436418	T	C	436418	3	2	79	1	0	0	0	0	1	0	0	0	14321	1638	57	4	988	4	SHC2	19	436418	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63727	436418	58692565	18230	28547											
SHC2	25759	broad.mit.edu	37	chr19	440898	440898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgttaaagtccagggagCgcatagagcggagaacctcg	15	9	0	2	rs531385125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:440898C>T	ENST00000264554.6	-	2	502	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	168	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGGGAGCGCATAGAGCG	0.637																																						ENST00000264554.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(502-504)cGc>cAc		SHC (Src homology 2 domain containing) transforming protein 2							94	115	108					19																	440898		2137	4243	6380	SO:0001583	missense	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:440898C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"SH2 domain containing"	29869	protein-coding gene	gene with protein product	"neuronal Shc adaptor homolog"	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.503G>A	19.37:g.440898C>T	ENSP00000264554:p.Arg168His						p.R168H	NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	502	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	168			PID.		O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	ENST00000264554.6	37	c.503G>A	CCDS45891.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166787	0.78339	.	.	ENSG00000129946	ENST00000264554	T	0.22539	1.95	3.2	3.2	0.36748	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000001	T	0.50429	0.1615	M	0.88450	2.955	0.48395	D	0.999646	D	0.89917	1.0	D	0.85130	0.997	T	0.61700	-0.7009	10	0.87932	D	0	-34.3311	12.6692	0.56858	0.0:1.0:0.0:0.0	.	168	P98077	SHC2_HUMAN	H	168	ENSP00000264554:R168H	ENSP00000264554:R168H	R	-	2	0	SHC2	391898	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.160000	0.77495	1.742000	0.51746	0.591000	0.81541	CGC		0.637	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			112	474	0	0	0	1	0	112	474					T	440898	C	T	440898	3	4	79	1	0	0	0	0	1	0	0	0	14321	768	27	1	1289	1	SHC2	19	440898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4480	440898	58688085	18231	28548											
CDC34	997	broad.mit.edu	37	chr19	535886	535886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactctccaccagcctttcGgttcctgaccaagatgtggc	8	14	1	2	rs375521090		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCTTTCGGTTCCTGACC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		17007	0.001		0.0	False		,,,				2504	0.0					ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(226-228)cGg>cAg		cell division cycle 34		G	GLN/ARG	0,4406		0,0,2203	263	260	261		227	5.1	0.2	19		261	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDC34	NM_004359.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	76/237	535886	1,13005	2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:535886G>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"Ubiquitin-conjugating enzymes E2"	1734	protein-coding gene	gene with protein product		116948	"cell division cycle 34", "cell division cycle 34 homolog (S. cerevisiae)"			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.227G>A	19.37:g.535886G>A	ENSP00000215574:p.Arg76Gln						p.R76Q	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	445	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	76					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.227G>A	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870932	0.51695	0.0	1.16E-4	ENSG00000099804	ENST00000215574	T	0.38240	1.15	5.13	5.13	0.70059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.29850	0.0746	L	0.45698	1.435	0.80722	D	1	P	0.43909	0.821	B	0.29785	0.107	T	0.23404	-1.0189	10	0.51188	T	0.08	-23.2597	17.6415	0.88138	0.0:0.0:1.0:0.0	.	76	P49427	UB2R1_HUMAN	Q	76	ENSP00000215574:R76Q	ENSP00000215574:R76Q	R	+	2	0	CDC34	486886	1.000000	0.71417	0.190000	0.23270	0.165000	0.22458	7.729000	0.84864	2.388000	0.81334	0.603000	0.83216	CGG		0.647	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		422	1736	0	0	0	1	0	422	1736					A	535886	G	A	535886	3	1	79	1	0	0	0	0	1	0	0	0	3076	1116	39	1	233	1	CDC34	19	535886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94988	535886	58593097	18232	28549											
CDC34	997	broad.mit.edu	37	chr19	541501	541501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaggtggaggaggaggcCgacagctgcttcggggacga	21	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:541501C>T	ENST00000215574.4	+	5	878	c.660C>T	c.(658-660)gcC>gcT	p.A220A	GZMM_ENST00000264553.3_5'Flank	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	220	Asp/Glu-rich (acidic).|SCF-binding.				cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGAGGCCGACAGCTGCT	0.622																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(658-660)gcC>gcT		cell division cycle 34							58	50	53					19																	541501		2203	4300	6503	SO:0001819	synonymous_variant	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:541501C>T	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"Ubiquitin-conjugating enzymes E2"	1734	protein-coding gene	gene with protein product		116948	"cell division cycle 34", "cell division cycle 34 homolog (S. cerevisiae)"			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.660C>T	19.37:g.541501C>T							p.A220A	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	878	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	220			Asp/Glu-rich (acidic).|SCF-binding.		A8K689	Silent	SNP	ENST00000215574.4	37	c.660C>T	CCDS12030.1																																																																																				0.622	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		12	303	0	0	0	1	0	12	303					T	541501	C	T	541501	2	4	79	1	0	0	0	0	0	0	0	1	3076	639	23	1		1	CDC34	19	541501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5615	541501	58587482	18233	28550											
BSG	682	broad.mit.edu	37	chr19	578071	578071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaaccacctgacccgggCgcccagggtcaagtgggtcc	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:578071C>T	ENST00000333511.3	+	2	435	c.365C>T	c.(364-366)gCg>gTg	p.A122V	BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	122					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)		CTGACCCGGGCGCCCAGGGTC	0.687																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(364-366)gCg>gTg		basigin																																				SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:578071C>T	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.365C>T	19.37:g.578071C>T	ENSP00000333769:p.Ala122Val					BSG_ENST00000346916.4_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron	p.A122V	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	435	+		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)	122					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.365C>T	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018309	0.35606	.	.	ENSG00000172270	ENST00000333511	T	0.60040	0.22	2.86	-0.386	0.12466	.	0.880482	0.09736	N	0.762478	T	0.21145	0.0509	N	0.08118	0	0.09310	N	0.999995	P	0.51057	0.941	B	0.24701	0.055	T	0.16719	-1.0393	10	0.16896	T	0.51	-0.2264	4.1335	0.10160	0.0:0.3412:0.3477:0.3111	.	122	P35613	BASI_HUMAN	V	122	ENSP00000333769:A122V	ENSP00000333769:A122V	A	+	2	0	BSG	529071	0.001000	0.12720	0.817000	0.32601	0.975000	0.68041	-0.018000	0.12568	0.286000	0.22352	0.462000	0.41574	GCG		0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		27	101	0	0	0	1	0	27	101					T	578071	C	T	578071	3	4	79	1	0	0	0	0	1	0	0	0	1533	768	27	1	407	1	BSG	19	578071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36570	578071	58550912	18234	28551											
BSG	682	broad.mit.edu	37	chr19	582313	582313	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccttcttcagatgacgaCgccggctctgcacccctgta	10	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:582313C>T	ENST00000333511.3	+	7	1147	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	BSG_ENST00000545507.2_Silent_p.D150D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000346916.4_Silent_p.D179D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	359	Poly-Asp.				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)		CAGATGACGACGCCGGCTCTG	0.642																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(1075-1077)gaC>gaT		basigin							27	32	31					19																	582313		2198	4294	6492	SO:0001819	synonymous_variant	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:582313C>T	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.1077C>T	19.37:g.582313C>T						BSG_ENST00000346916.4_Silent_p.D179D|BSG_ENST00000353555.4_Silent_p.D243D|BSG_ENST00000545507.2_Silent_p.D150D	p.D359D	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1147	+		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)	359			Poly-Asp.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	ENST00000333511.3	37	c.1077C>T	CCDS12033.1																																																																																				0.642	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		89	313	0	0	0	1	0	89	313					T	582313	C	T	582313	2	4	79	1	0	0	0	0	0	0	0	1	1533	535	19	1		1	BSG	19	582313	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4242	582313	58546670	18235	28552											
HCN2	610	broad.mit.edu	37	chr19	603718	603718	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttccgcaccggcattgtgatCgaggacaacacggagatcat	11	11	1	2	rs143343881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:603718C>T	ENST00000251287.2	+	2	860	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	269					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGATCGAGGACAACA	0.557																																					Melanoma(145;1175 2427 8056 36306)	ENST00000251287.2																			0				endometrium(5)|lung(4)	9						c.(805-807)atC>atT		hyperpolarization activated cyclic nucleotide-gated potassium channel 2		C		2,4398		0,2,2198	140	119	126		807	-3.1	1	19	dbSNP_134	126	1,8599		0,1,4299	no	coding-synonymous	HCN2	NM_001194.3		0,3,6497	TT,TC,CC		0.0116,0.0455,0.0231		269/890	603718	3,12997	2200	4300	6500	SO:0001819	synonymous_variant	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:603718C>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.807C>T	19.37:g.603718C>T							p.I269I	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	860	+		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)	269					O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	c.807C>T	CCDS12035.1																																																																																				0.557	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		56	348	0	0	0	1	0	56	348					T	603718	C	T	603718	2	4	79	1	0	0	0	0	0	0	0	1	7027	874	31	1		1	HCN2	19	603718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21405	603718	58525265	18236	28553											
POLRMT	5442	broad.mit.edu	37	chr19	623477	623477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttgacctccttgcttgGcaacgtgggcttctccacgg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:623477G>A	ENST00000588649.2	-	6	1351	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	423					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)		TCCTTGCTTGGCAACGTGGGC	0.682																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1267-1269)Cca>Tca		polymerase (RNA) mitochondrial (DNA directed)							50	46	48					19																	623477		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:623477G>A		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.1267C>T	19.37:g.623477G>A	ENSP00000465759:p.Pro423Ser						p.P423S	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1351	-		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)	423					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1267C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631471	0.29068	.	.	ENSG00000099821	ENST00000215591	T	0.40476	1.03	4.36	1.54	0.23209	.	0.496370	0.20887	N	0.083892	T	0.24928	0.0605	L	0.40543	1.245	0.09310	N	1	B	0.29253	0.239	B	0.24006	0.05	T	0.24476	-1.0159	10	0.07644	T	0.81	-11.3198	7.0383	0.25004	0.0889:0.0:0.6622:0.2488	.	423	O00411	RPOM_HUMAN	S	423	ENSP00000215591:P423S	ENSP00000215591:P423S	P	-	1	0	POLRMT	574477	0.007000	0.16637	0.000000	0.03702	0.001000	0.01503	1.608000	0.36847	0.132000	0.18615	0.561000	0.74099	CCA		0.682	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		74	315	0	0	0	1	0	74	315					A	623477	G	A	623477	3	1	79	1	0	0	0	0	1	0	0	0	12280	1203	42	2	2489	2	POLRMT	19	623477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19759	623477	58505506	18237	28554											
POLRMT	5442	broad.mit.edu	37	chr19	629762	629762	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccacatcgaggctcagcttCccaggggcctcctgcagcag	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629762C>T	ENST00000588649.2	-	3	684	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	200					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)		GGCTCAGCTTCCCAGGGGCCT	0.701																																						ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(598-600)ggG>ggA		polymerase (RNA) mitochondrial (DNA directed)							6	7	6					19																	629762		2057	4033	6090	SO:0001819	synonymous_variant	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:629762C>T		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.600G>A	19.37:g.629762C>T							p.G200G	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	684	-		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)	200					O60370	Silent	SNP	ENST00000588649.2	37	c.600G>A	CCDS12036.1																																																																																				0.701	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		22	94	0	0	0	1	0	22	94					T	629762	C	T	629762	2	4	79	1	0	0	0	0	0	0	0	1	12280	842	30	2		2	POLRMT	19	629762	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6285	629762	58499221	18238	28555											
POLRMT	5442	broad.mit.edu	37	chr19	629970	629970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatacgcatctgctgggtcCgcttatccttctccagtatc	8	14	2	0	rs113148837	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629970C>T	ENST00000588649.2	-	3	476	c.392G>A	c.(391-393)cGg>cAg	p.R131Q		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	131					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)		CTGCTGGGTCCGCTTATCCTT	0.637													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17716	0.001		0.0	False		,,,				2504	0.0					ENST00000588649.2																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(391-393)cGg>cAg		polymerase (RNA) mitochondrial (DNA directed)		C	GLN/ARG	13,4393	20.2+/-43.8	0,13,2190	46	43	44		392	-8.3	0	19	dbSNP_132	44	0,8600		0,0,4300	no	missense	POLRMT	NM_005035.3	43	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	benign	131/1231	629970	13,12993	2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:629970C>T		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.392G>A	19.37:g.629970C>T	ENSP00000465759:p.Arg131Gln						p.R131Q	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	476	-		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)	131					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.392G>A	CCDS12036.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.874	0.728691	0.15507	0.002951	0.0	ENSG00000099821	ENST00000215591	T	0.42900	0.96	4.16	-8.32	0.00996	.	1.256700	0.05662	N	0.587128	T	0.16041	0.0386	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12682	-1.0538	10	0.30854	T	0.27	-3.4379	2.1405	0.03774	0.1904:0.2481:0.0948:0.4667	.	131	O00411	RPOM_HUMAN	Q	131	ENSP00000215591:R131Q	ENSP00000215591:R131Q	R	-	2	0	POLRMT	580970	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.052000	0.01401	-2.047000	0.00908	-0.459000	0.05422	CGG		0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		6	315	0	0	0	1	0	6	315					T	629970	C	T	629970	3	4	79	1	0	0	0	0	1	0	0	0	12280	652	23	1	3376	1	POLRMT	19	629970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	629970	58499013	18239	28556											
RNF126	55658	broad.mit.edu	37	chr19	651781	651781	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggagggaacgtggggatctcGaagctgtcatcgaagatgcc	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:651781G>A	ENST00000292363.5	-	4	428	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGATCTCGAAGCTGTCAT	0.677																																						ENST00000292363.5																			0				lung(1)	1						c.(271-273)ttC>ttT		ring finger protein 126							47	42	44					19																	651781		2203	4300	6503	SO:0001819	synonymous_variant	55658						protein binding|zinc ion binding	g.chr19:651781G>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.273C>T	19.37:g.651781G>A							p.F91F	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	428	-		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)	91						Silent	SNP	ENST00000292363.5	37	c.273C>T	CCDS12039.1																																																																																				0.677	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		42	205	0	0	0	1	0	42	205					A	651781	G	A	651781	2	1	79	1	0	0	0	0	0	0	0	1	13485	1049	37	1		1	RNF126	19	651781	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21811	651781	58477202	18240	28557											
RNF126	55658	broad.mit.edu	37	chr19	652265	652265	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggctctggtctgtgggagCtgtggagggggcagaaccat	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:652265C>A	ENST00000292363.5	-	3	321	c.166G>T	c.(166-168)Gct>Tct	p.A56S		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGGGAGCTGTGGAGGGG	0.687																																						ENST00000292363.5																			0				lung(1)	1						c.(166-168)Gct>Tct		ring finger protein 126							70	62	65					19																	652265		2184	4282	6466	SO:0001583	missense	55658						protein binding|zinc ion binding	g.chr19:652265C>A	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.166G>T	19.37:g.652265C>A	ENSP00000292363:p.Ala56Ser						p.A56S	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	321	-		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)	56						Missense_Mutation	SNP	ENST00000292363.5	37	c.166G>T	CCDS12039.1	.	.	.	.	.	.	.	.	.	.	c	5.854	0.341819	0.11069	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.13196	2.61	4.43	4.43	0.53597	.	0.080536	0.49916	D	0.000122	T	0.05593	0.0147	N	0.04090	-0.28	0.31136	N	0.70716	B	0.22146	0.065	B	0.22753	0.041	T	0.22173	-1.0224	10	0.08599	T	0.76	.	10.094	0.42464	0.2162:0.7838:0.0:0.0	.	56	Q9BV68-2	.	S	56	ENSP00000292363:A56S	ENSP00000292363:A56S	A	-	1	0	RNF126	603265	0.995000	0.38212	0.992000	0.48379	0.868000	0.49771	3.288000	0.51739	2.008000	0.58898	0.561000	0.74099	GCT		0.687	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		12	24	1	0	9.05144e-12	1	9.67624e-12	12	24					A	652265	C	A	652265	3	1	79	1	0	0	0	0	1	0	0	0	13485	797	28	3	797	3	RNF126	19	652265	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	484	652265	58476718	18241	28558											
FSTL3	10272	broad.mit.edu	37	chr19	677877	677877	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgggccgagtgctgtgcCtccggcaacattgacaccgc	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:677877C>T	ENST00000166139.4	+	2	221	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	63	TB.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCTGTGCCTCCGGCAACA	0.647			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(187-189)gcC>gcT		follistatin-like 3 (secreted glycoprotein)							101	85	91					19																	677877		2203	4300	6503	SO:0001819	synonymous_variant	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:677877C>T	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"follistatin-related protein"	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.189C>T	19.37:g.677877C>T							p.A63A	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	221	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	63			TB.		A8K7E3	Silent	SNP	ENST00000166139.4	37	c.189C>T	CCDS12040.1																																																																																				0.647	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		96	399	0	0	0	1	0	96	399					T	677877	C	T	677877	2	4	79	1	0	0	0	0	0	0	0	1	6105	668	24	2		2	FSTL3	19	677877	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25612	677877	58451106	18242	28559											
FSTL3	10272	broad.mit.edu	37	chr19	681539	681539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccgctccatcggcgtgCgccacgcgggcagctgcgca	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:681539C>T	ENST00000166139.4	+	4	744	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	238	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGGCGTGCGCCACGCGGG	0.697			T	CCND1	B-CLL																																	ENST00000166139.4				Dom	yes		19	19p13	10272	T	follistatin-like 3 (secreted glycoprotein)			L	CCND1		B-CLL		0											c.(712-714)Cgc>Tgc		follistatin-like 3 (secreted glycoprotein)							26	23	24					19																	681539		2200	4296	6496	SO:0001583	missense	10272				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding	g.chr19:681539C>T	U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"follistatin-related protein"	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.712C>T	19.37:g.681539C>T	ENSP00000166139:p.Arg238Cys					FSTL3_ENST00000592947.1_3'UTR	p.R238C	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	744	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	238			Kazal-like 2.		A8K7E3	Missense_Mutation	SNP	ENST00000166139.4	37	c.712C>T	CCDS12040.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432881	0.62844	.	.	ENSG00000070404	ENST00000166139	T	0.04119	3.7	3.88	3.88	0.44766	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.188903	0.47093	D	0.000242	T	0.20861	0.0502	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01378	-1.1370	10	0.62326	D	0.03	-31.728	14.5679	0.68191	0.0:1.0:0.0:0.0	.	238	O95633	FSTL3_HUMAN	C	238	ENSP00000166139:R238C	ENSP00000166139:R238C	R	+	1	0	FSTL3	632539	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	5.358000	0.66064	2.011000	0.59026	0.462000	0.41574	CGC		0.697	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452479.1	NM_005860		22	101	0	0	0	1	0	22	101					T	681539	C	T	681539	3	4	79	1	0	0	0	0	1	0	0	0	6105	768	27	1	726	1	FSTL3	19	681539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3662	681539	58447444	18243	28560											
PALM	5064	broad.mit.edu	37	chr19	746591	746591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaggatgaggccgagaCcaagaaggtgctgggccttc	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746591C>T	ENST00000338448.5	+	9	987	c.941C>T	c.(940-942)aCc>aTc	p.T314I	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.T270I	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	314					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAGGCCGAGACCAAGAAGGTG	0.652																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(808-810)aCc>aTc		paralemmin							43	36	39					19																	746591		2203	4300	6503	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746591C>T	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.941C>T	19.37:g.746591C>T	ENSP00000341911:p.Thr314Ile					PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.T314I	p.T270I	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1003	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	314					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.809C>T	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751746	0.69533	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.30182	1.54;1.54	4.92	1.25	0.21368	.	0.110204	0.64402	D	0.000010	T	0.51126	0.1656	M	0.77103	2.36	0.45762	D	0.99865	D;D	0.76494	0.999;0.999	D;D	0.73708	0.968;0.981	T	0.53655	-0.8408	10	0.87932	D	0	-25.5817	10.0812	0.42391	0.1401:0.5653:0.2946:0.0	.	270;314	O75781-2;O75781	.;PALM_HUMAN	I	314;270;179	ENSP00000341911:T314I;ENSP00000264560:T270I	ENSP00000264560:T270I	T	+	2	0	PALM	697591	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.710000	0.54860	0.444000	0.26612	0.462000	0.41574	ACC		0.652	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		36	194	0	0	0	1	0	36	194					T	746591	C	T	746591	3	4	79	1	0	0	0	0	1	0	0	0	11450	507	18	2	975	2	PALM	19	746591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65052	746591	58382392	18244	28561											
PALM	5064	broad.mit.edu	37	chr19	746669	746669	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctgagcccaaggagcCtgcaccacccaacggcagtg	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746669C>A	ENST00000338448.5	+	9	1065	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.P296H	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	340					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCCAAGGAGCCTGCACCACCC	0.667																																						ENST00000264560.7																			0				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(886-888)cCt>cAt		paralemmin							26	23	24					19																	746669		2201	4300	6501	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746669C>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.1019C>A	19.37:g.746669C>A	ENSP00000341911:p.Pro340His					PALM_ENST00000606643.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.P340H	p.P296H	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)	8	1081	+		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	340					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.887C>A	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306653	0.40795	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.17054	2.3;2.3	4.72	4.72	0.59763	.	0.620673	0.15422	U	0.263170	T	0.22742	0.0549	M	0.72118	2.19	0.30887	N	0.730813	B;B	0.22746	0.074;0.053	B;B	0.22152	0.022;0.038	T	0.08513	-1.0718	10	0.54805	T	0.06	-9.4528	12.4245	0.55538	0.1799:0.8201:0.0:0.0	.	296;340	O75781-2;O75781	.;PALM_HUMAN	H	340;296;205	ENSP00000341911:P340H;ENSP00000264560:P296H	ENSP00000264560:P296H	P	+	2	0	PALM	697669	0.000000	0.05858	0.761000	0.31378	0.168000	0.22595	1.022000	0.30052	2.154000	0.67381	0.462000	0.41574	CCT		0.667	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		28	106	1	0	3.73148e-12	1	3.99992e-12	28	106					A	746669	C	A	746669	3	1	79	1	0	0	0	0	1	0	0	0	11450	681	24	3	1053	3	PALM	19	746669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78	746669	58382314	18245	28562											
C19orf21	126353	broad.mit.edu	37	chr19	758345	758345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccaaaggccacgatgtccCcgaggcatctctcagaatcc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:758345C>T	ENST00000215582.6	+	2	1502	c.1399C>T	c.(1399-1401)Ccg>Tcg	p.P467S		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	467					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CACGATGTCCCCGAGGCATCT	0.612																																						ENST00000215582.6																			0											c.(1399-1401)Ccg>Tcg		mitotic spindle positioning							51	44	46					19																	758345		2203	4300	6503	SO:0001583	missense	126353							g.chr19:758345C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1399C>T	19.37:g.758345C>T	ENSP00000215582:p.Pro467Ser						p.P467S	NM_173481.2	NP_775752.1					2	1502	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.1399C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	1.153	-0.646140	0.03531	.	.	ENSG00000099812	ENST00000215582	T	0.27890	1.64	3.81	2.76	0.32466	.	3.298150	0.01039	N	0.004271	T	0.32496	0.0831	L	0.54323	1.7	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.16897	-1.0387	10	0.37606	T	0.19	-0.007	7.1168	0.25421	0.0:0.7252:0.173:0.1017	.	467	Q8IVT2	CS021_HUMAN	S	467	ENSP00000215582:P467S	ENSP00000215582:P467S	P	+	1	0	C19orf21	709345	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.216000	0.17585	0.886000	0.36113	-0.339000	0.08088	CCG		0.612	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		55	231	0	0	0	1	0	55	231					T	758345	C	T	758345	3	4	79	1	0	0	0	0	1	0	0	0	1920	623	22	2	1401	2	C19orf21	19	758345	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11676	758345	58370638	18246	28563											
C19orf21	126353	broad.mit.edu	37	chr19	758615	758615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagggagagtgtcctgcgcCgggagcaagaggtggcagag	20	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:758615C>T	ENST00000215582.6	+	2	1772	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	557					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TGTCCTGCGCCGGGAGCAAGA	0.612																																						ENST00000215582.6																			0											c.(1669-1671)Cgg>Tgg		mitotic spindle positioning							50	56	54					19																	758615		2203	4300	6503	SO:0001583	missense	126353							g.chr19:758615C>T	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1669C>T	19.37:g.758615C>T	ENSP00000215582:p.Arg557Trp						p.R557W	NM_173481.2	NP_775752.1					2	1772	+									Missense_Mutation	SNP	ENST00000215582.6	37	c.1669C>T	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694533	0.48202	.	.	ENSG00000099812	ENST00000215582	T	0.80214	-1.35	3.69	-0.449	0.12226	.	0.151230	0.36665	N	0.002465	D	0.85860	0.5795	M	0.66939	2.045	0.36167	D	0.848517	D	0.89917	1.0	D	0.91635	0.999	D	0.87073	0.2161	10	0.87932	D	0	-31.138	10.8909	0.46994	0.597:0.403:0.0:0.0	.	557	Q8IVT2	CS021_HUMAN	W	557	ENSP00000215582:R557W	ENSP00000215582:R557W	R	+	1	2	C19orf21	709615	0.412000	0.25392	0.689000	0.30133	0.563000	0.35712	-0.389000	0.07342	0.225000	0.20959	0.561000	0.74099	CGG		0.612	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		9	465	0	0	0	1	0	9	465					T	758615	C	T	758615	3	4	79	1	0	0	0	0	1	0	0	0	1920	643	23	1	1671	1	C19orf21	19	758615	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	270	758615	58370368	18247	28564											
PTBP1	5725	broad.mit.edu	37	chr19	806450	806450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgccctggcccccctggCcatcccctcggcggcggcgg	15	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:806450C>T	ENST00000349038.4	+	9	1008	c.935C>T	c.(934-936)gCc>gTc	p.A312V	PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V|PTBP1_ENST00000356948.6_Missense_Mutation_p.A338V|PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	312					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCCTGGCCATCCCCTCG	0.697																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1012-1014)gCc>gTc		polypyrimidine tract binding protein 1							15	18	17					19																	806450		2190	4273	6463	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:806450C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.935C>T	19.37:g.806450C>T	ENSP00000014112:p.Ala312Val					PTBP1_ENST00000349038.4_Missense_Mutation_p.A312V|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A331V	p.A338V	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1436	+		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)	312			RRM 3.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.1013C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336728	0.24253	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50548	0.74;0.79;1.13	4.29	3.25	0.37280	.	0.201845	0.41001	D	0.000969	T	0.44244	0.1284	L	0.56769	1.78	0.80722	D	1	B;B;B	0.31174	0.077;0.005;0.311	B;B;B	0.32677	0.044;0.014;0.15	T	0.43180	-0.9407	10	0.56958	D	0.05	-12.4848	11.1165	0.48264	0.0:0.9089:0.0:0.0911	.	312;331;338	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	338;331;312	ENSP00000349428:A338V;ENSP00000408096:A331V;ENSP00000014112:A312V	ENSP00000014112:A312V	A	+	2	0	PTBP1	757450	1.000000	0.71417	0.926000	0.36857	0.023000	0.10783	4.477000	0.60223	0.804000	0.34136	-0.251000	0.11542	GCC		0.697	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			6	158	0	0	0	1	0	6	158					T	806450	C	T	806450	3	4	79	1	0	0	0	0	1	0	0	0	12772	739	26	2	1051	2	PTBP1	19	806450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47835	806450	58322533	18248	28565											
PTBP1	5725	broad.mit.edu	37	chr19	807883	807883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagagagtcacaccccaAagcctctttattcttttcgg	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:807883A>C	ENST00000349038.4	+	10	1129	c.1056A>C	c.(1054-1056)caA>caC	p.Q352H	PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H|PTBP1_ENST00000356948.6_Missense_Mutation_p.Q378H|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	352	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACACCCCAAAGCCTCTTTA	0.468																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1132-1134)caA>caC		polypyrimidine tract binding protein 1							222	199	207					19																	807883		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:807883A>C	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1056A>C	19.37:g.807883A>C	ENSP00000014112:p.Gln352His					PTBP1_ENST00000349038.4_Missense_Mutation_p.Q352H|PTBP1_ENST00000350092.4_Missense_Mutation_p.Q18H|PTBP1_ENST00000394601.4_Missense_Mutation_p.Q371H	p.Q378H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1557	+		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)	352			RRM 3.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.1134A>C	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642587	0.29246	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.44083	0.93;3.32;1.23;1.49	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.246333	0.41938	D	0.000782	T	0.36853	0.0982	L	0.42487	1.325	0.54753	D	0.99998	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.13407	0.002;0.004;0.009;0.004	T	0.11690	-1.0577	10	0.31617	T	0.26	-7.9015	14.4771	0.67554	1.0:0.0:0.0:0.0	.	18;352;371;378	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	H	378;371;352;18	ENSP00000349428:Q378H;ENSP00000408096:Q371H;ENSP00000014112:Q352H;ENSP00000342332:Q18H	ENSP00000014112:Q352H	Q	+	3	2	PTBP1	758883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.419000	0.59835	2.006000	0.58801	0.528000	0.53228	CAA		0.468	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			135	725	0	0	0	1	0	135	725					C	807883	A	C	807883	3	2	79	1	0	0	0	0	1	0	0	0	12772	11	1	4	1176	4	PTBP1	19	807883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1433	807883	58321100	18249	28566											
AZU1	566	broad.mit.edu	37	chr19	828350	828350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgccctgatccatgcccGcttcgtgatgaccgcggcca	13	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:828350G>A	ENST00000233997.2	+	2	200	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	60	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.|Possesses antibiotic activity.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCATGCCCGCTTCGTGATG	0.667																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(178-180)cGc>cAc		azurocidin 1							41	47	45					19																	828350		2203	4296	6499	SO:0001583	missense	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:828350G>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.179G>A	19.37:g.828350G>A	ENSP00000233997:p.Arg60His						p.R60H	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	200	+		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)	60			Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	ENST00000233997.2	37	c.179G>A	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134797	0.37728	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.89050	-2.46	2.4	-1.21	0.09524	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89417	0.6709	M	0.82923	2.615	0.09310	N	1	D	0.56521	0.976	P	0.51229	0.663	T	0.80141	-0.1506	9	0.66056	D	0.02	.	2.6299	0.04941	0.3483:0.2644:0.3873:0.0	.	60	P20160	CAP7_HUMAN	H	74;60	ENSP00000233997:R60H	ENSP00000233997:R60H	R	+	2	0	AZU1	779350	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.409000	0.07160	-0.061000	0.13110	0.511000	0.50034	CGC		0.667	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		149	472	0	0	0	1	0	149	472					A	828350	G	A	828350	3	1	79	1	0	0	0	0	1	0	0	0	1244	1087	38	1	185	1	AZU1	19	828350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20467	828350	58300633	18250	28567											
C19orf22	91300	broad.mit.edu	37	chr19	901497	901497	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccaagtccccatcctcCaggccaggcaggcccccgtc	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901497C>T	ENST00000361574.5	-	3	349	c.276G>A	c.(274-276)ctG>ctA	p.L92L	R3HDM4_ENST00000587975.1_Silent_p.L71L	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	92						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										CCCCATCCTCCAGGCCAGGCA	0.652																																						ENST00000361574.5																			0											c.(274-276)ctG>ctA		R3H domain containing 4							39	39	39					19																	901497		2201	4299	6500	SO:0001819	synonymous_variant	91300					nucleus	nucleic acid binding	g.chr19:901497C>T	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 22"	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.276G>A	19.37:g.901497C>T						R3HDM4_ENST00000587975.1_Silent_p.L71L	p.L92L	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN			3	349	-			92						Silent	SNP	ENST00000361574.5	37	c.276G>A	CCDS12048.1																																																																																				0.652	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		26	128	0	0	0	1	0	26	128					T	901497	C	T	901497	2	4	79	1	0	0	0	0	0	0	0	1	1921	581	21	2		2	C19orf22	19	901497	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73147	901497	58227486	18251	28568											
C19orf22	91300	broad.mit.edu	37	chr19	901987	901987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcactgttctccaggCgctggaggctcttccgcccc	10	18	3	0	rs574707568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901987C>T	ENST00000361574.5	-	2	288	c.215G>A	c.(214-216)cGc>cAc	p.R72H	R3HDM4_ENST00000587975.1_Missense_Mutation_p.R51H	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	72						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										GTTCTCCAGGCGCTGGAGGCT	0.602													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14994	0.0		0.0	False		,,,				2504	0.0					ENST00000361574.5																			0											c.(214-216)cGc>cAc		R3H domain containing 4							74	75	74					19																	901987		2203	4299	6502	SO:0001583	missense	91300					nucleus	nucleic acid binding	g.chr19:901987C>T	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 22"	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.215G>A	19.37:g.901987C>T	ENSP00000355385:p.Arg72His					R3HDM4_ENST00000587975.1_Missense_Mutation_p.R51H	p.R72H	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN			2	288	-			72						Missense_Mutation	SNP	ENST00000361574.5	37	c.215G>A	CCDS12048.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194653	0.94960	.	.	ENSG00000198858	ENST00000361574	.	.	.	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000013	T	0.76579	0.4007	M	0.64404	1.975	0.58432	D	0.999991	D	0.89917	1.0	D	0.77004	0.989	T	0.79881	-0.1616	9	0.87932	D	0	-18.0615	16.0896	0.81084	0.0:1.0:0.0:0.0	.	72	Q96D70	CS022_HUMAN	H	72	.	ENSP00000355385:R72H	R	-	2	0	C19orf22	852987	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.928000	0.63447	2.147000	0.66899	0.462000	0.41574	CGC		0.602	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		110	549	0	0	0	1	0	110	549					T	901987	C	T	901987	3	4	79	1	0	0	0	0	1	0	0	0	1921	768	27	1	619	1	C19orf22	19	901987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	490	901987	58226996	18252	28569											
ARID3A	1820	broad.mit.edu	37	chr19	964313	964313	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctgttcatgctgtacgtgCtggtgacggagaagggcggc	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:964313C>A	ENST00000263620.3	+	5	1159	c.832C>A	c.(832-834)Ctg>Atg	p.L278M		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	278	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTACGTGCTGGTGACGGA	0.617																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(832-834)Ctg>Atg		AT rich interactive domain 3A (BRIGHT-like)							154	117	129					19																	964313		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964313C>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.832C>A	19.37:g.964313C>A	ENSP00000263620:p.Leu278Met						p.L278M	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1159	+		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)	278			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.832C>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578725	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.68025	-0.3	4.5	3.2	0.36748	ARID/BRIGHT DNA-binding domain (5);	0.152498	0.45361	D	0.000380	T	0.79423	0.4443	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.81448	-0.0928	10	0.72032	D	0.01	-15.9204	10.6806	0.45813	0.0:0.8824:0.0:0.1176	.	278	Q99856	ARI3A_HUMAN	M	278	ENSP00000263620:L278M	ENSP00000263620:L278M	L	+	1	2	ARID3A	915313	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.605000	0.61119	2.061000	0.61500	0.561000	0.74099	CTG		0.617	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		38	177	1	0	1.07121e-22	1	1.21384e-22	38	177					A	964313	C	A	964313	3	1	79	1	0	0	0	0	1	0	0	0	916	796	28	3	846	3	ARID3A	19	964313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62326	964313	58164670	18253	28570											
ARID3A	1820	broad.mit.edu	37	chr19	971939	971939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcccaacaaaggaggcggCggcggcggcggcagcagcag	18	13	0	0	rs535674511	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:971939C>T	ENST00000263620.3	+	9	1983	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	552	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.G552G(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657													.|||	2	0.000399361	0.0	0.0	5008	,	,		9042	0.002		0.0	False		,,,				2504	0.0				Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			1	Substitution - coding silent(1)	p.G552G(1)	endometrium(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1654-1656)ggC>ggT		AT rich interactive domain 3A (BRIGHT-like)							22	30	28					19																	971939		2198	4283	6481	SO:0001819	synonymous_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:971939C>T	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"-"	3031	protein-coding gene	gene with protein product		603265	"dead ringer-like 1 (Drosophila)", "AT rich interactive domain 3A (BRIGHT- like)"	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1656C>T	19.37:g.971939C>T							p.G552G	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1983	+		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)	552			Gly-rich.|Important for cytoplasmic localization (By similarity).		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	c.1656C>T	CCDS12050.1																																																																																				0.657	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		58	280	0	0	0	1	0	58	280					T	971939	C	T	971939	2	4	79	1	0	0	0	0	0	0	0	1	916	755	27	1		1	ARID3A	19	971939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7626	971939	58157044	18254	28571											
WDR18	57418	broad.mit.edu	37	chr19	990913	990913	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttgacgtgtccatcatggCagtgaccatggacctggctg	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:990913C>A	ENST00000251289.5	+	5	682	c.659C>A	c.(658-660)gCa>gAa	p.A220E	WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	220					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)		TCCATCATGGCAGTGACCATG	0.652																																						ENST00000251289.5																			0				endometrium(1)|kidney(2)|lung(2)|skin(2)	7						c.(658-660)gCa>gAa		WD repeat domain 18							73	67	69					19																	990913		2202	4299	6501	SO:0001583	missense	57418							g.chr19:990913C>A		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.659C>A	19.37:g.990913C>A	ENSP00000251289:p.Ala220Glu					WDR18_ENST00000587001.2_Missense_Mutation_p.A220E	p.A220E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	682	+		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)	220					O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	37	c.659C>A	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350431	0.41599	.	.	ENSG00000065268	ENST00000251289	T	0.20332	2.08	3.93	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.190944	0.46442	D	0.000281	T	0.28001	0.0690	M	0.70595	2.14	0.43390	D	0.995501	P	0.44776	0.843	B	0.41723	0.365	T	0.29852	-0.9998	10	0.72032	D	0.01	.	15.1128	0.72372	0.0:1.0:0.0:0.0	.	220	Q9BV38	WDR18_HUMAN	E	220	ENSP00000251289:A220E	ENSP00000251289:A220E	A	+	2	0	WDR18	941913	1.000000	0.71417	0.198000	0.23420	0.043000	0.13939	7.146000	0.77373	2.034000	0.60081	0.591000	0.81541	GCA		0.652	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			8	300	1	0	0.00307968	1	0.00310409	8	300					A	990913	C	A	990913	3	1	79	1	0	0	0	0	1	0	0	0	17332	710	25	3	677	3	WDR18	19	990913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18974	990913	58138070	18255	28572											
GRIN3B	116444	broad.mit.edu	37	chr19	1005022	1005022	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgacggcaagtacggcgccCtgcgggacggccgctggacc	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005022C>A	ENST00000234389.3	+	3	1541	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	508					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)	GTACGGCGCCCTGCGGGACGG	0.687																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1522-1524)Ctg>Atg		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						21	23	22					19																	1005022		2203	4292	6495	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005022C>A		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.1522C>A	19.37:g.1005022C>A	ENSP00000234389:p.Leu508Met					GRIN3B_ENST00000588335.1_3'UTR	p.L508M	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1541	+		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)	508					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1522C>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297039	0.40594	.	.	ENSG00000116032	ENST00000234389	T	0.54071	0.59	4.53	3.41	0.39046	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.320202	0.31290	N	0.007919	T	0.50548	0.1622	L	0.28556	0.865	0.26560	N	0.973747	D	0.59357	0.985	P	0.59115	0.852	T	0.35649	-0.9780	10	0.52906	T	0.07	.	6.458	0.21940	0.0:0.7768:0.0:0.2232	.	508	O60391	NMD3B_HUMAN	M	508	ENSP00000234389:L508M	ENSP00000234389:L508M	L	+	1	2	GRIN3B	956022	0.995000	0.38212	0.998000	0.56505	0.557000	0.35523	2.531000	0.45650	2.100000	0.63781	0.485000	0.47835	CTG		0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			57	236	1	0	7.22619e-39	1	8.72213e-39	57	236					A	1005022	C	A	1005022	3	1	79	1	0	0	0	0	1	0	0	0	6814	680	24	3	1532	3	GRIN3B	19	1005022	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14109	1005022	58123961	18256	28573											
GRIN3B	116444	broad.mit.edu	37	chr19	1005113	1005113	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcagtatcaactccgcccGctcacaggtggtggacttca	9	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005113G>A	ENST00000234389.3	+	3	1632	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	538					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)	AACTCCGCCCGCTCACAGGTG	0.687																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1612-1614)cGc>cAc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						41	37	38					19																	1005113		2203	4299	6502	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005113G>A		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.1613G>A	19.37:g.1005113G>A	ENSP00000234389:p.Arg538His					GRIN3B_ENST00000588335.1_3'UTR	p.R538H	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1632	+		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)	538					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.1613G>A	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263363	0.80358	.	.	ENSG00000116032	ENST00000234389	T	0.70749	-0.51	4.53	4.53	0.55603	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	H	0.96111	3.77	0.47621	D	0.999475	D	0.89917	1.0	D	0.97110	1.0	D	0.92716	0.6187	10	0.87932	D	0	.	15.8728	0.79136	0.0:0.0:1.0:0.0	.	538	O60391	NMD3B_HUMAN	H	538	ENSP00000234389:R538H	ENSP00000234389:R538H	R	+	2	0	GRIN3B	956113	1.000000	0.71417	0.932000	0.37286	0.960000	0.62799	9.675000	0.98638	2.100000	0.63781	0.485000	0.47835	CGC		0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			6	310	0	0	0	1	0	6	310					A	1005113	G	A	1005113	3	1	79	1	0	0	0	0	1	0	0	0	6814	1087	38	1	1623	1	GRIN3B	19	1005113	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	91	1005113	58123870	18257	28574											
C19orf6	91304	broad.mit.edu	37	chr19	1011428	1011428	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtcatactggtccgcgagCcacacgatgaggatgatgta	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1011428C>T	ENST00000356663.3	-	9	1276	c.1155G>A	c.(1153-1155)tgG>tgA	p.W385*	TMEM259_ENST00000333175.5_Nonsense_Mutation_p.W385*	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	385						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGTCCGCGAGCCACACGATGA	0.647																																						ENST00000356663.3																			0											c.(1153-1155)tgG>tgA		transmembrane protein 259							63	46	52					19																	1011428		2189	4290	6479	SO:0001587	stop_gained	91304							g.chr19:1011428C>T	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1155G>A	19.37:g.1011428C>T	ENSP00000349087:p.Trp385*					TMEM259_ENST00000333175.5_Nonsense_Mutation_p.W385*	p.W385*	NM_001033026.1	NP_001028198.1					9	1276	-								O60392|Q8NF79|Q96H30	Nonsense_Mutation	SNP	ENST00000356663.3	37	c.1155G>A	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	38	6.666286	0.97747	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2499	14.7309	0.69379	0.0:1.0:0.0:0.0	.	.	.	.	X	385	.	ENSP00000331423:W385X	W	-	3	0	C19orf6	962428	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.157000	0.77461	1.683000	0.51011	0.450000	0.29827	TGG		0.647	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		9	26	0	0	0	1	0	9	26					T	1011428	C	T	1011428	4	4	79	1	0	0	0	0	0	1	0	0	1948	740	26	2	719	2	C19orf6	19	1011428	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6315	1011428	58117555	18258	28575											
C19orf6	91304	broad.mit.edu	37	chr19	1014397	1014397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggccacttgtcacgcaCatgctccaggcagttgatgg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1014397C>T	ENST00000356663.3	-	2	422	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	TMEM259_ENST00000333175.5_Missense_Mutation_p.V101M	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	101						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TTGTCACGCACATGCTCCAGG	0.652																																						ENST00000356663.3																			0											c.(301-303)Gtg>Atg		transmembrane protein 259							34	33	33					19																	1014397		2203	4299	6502	SO:0001583	missense	91304							g.chr19:1014397C>T	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"membralin", "aspecific BCL2 ARE-binding protein 1"	611011	"chromosome 19 open reading frame 6"	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.301G>A	19.37:g.1014397C>T	ENSP00000349087:p.Val101Met					TMEM259_ENST00000333175.5_Missense_Mutation_p.V101M	p.V101M	NM_001033026.1	NP_001028198.1					2	422	-								O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	ENST00000356663.3	37	c.301G>A	CCDS32862.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666893	0.67814	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.19	4.19	0.49359	.	0.140470	0.47093	D	0.000247	T	0.64811	0.2632	L	0.55213	1.73	0.58432	D	0.999995	P;P	0.46706	0.858;0.883	P;P	0.53102	0.596;0.718	T	0.65475	-0.6159	9	0.40728	T	0.16	-15.2317	15.6616	0.77190	0.0:1.0:0.0:0.0	.	101;101	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	M	101	.	ENSP00000331423:V101M	V	-	1	0	C19orf6	965397	1.000000	0.71417	0.997000	0.53966	0.308000	0.27856	5.248000	0.65421	2.182000	0.69389	0.561000	0.74099	GTG		0.652	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		27	202	0	0	0	1	0	27	202					T	1014397	C	T	1014397	3	4	79	1	0	0	0	0	1	0	0	0	1948	478	17	2	1601	2	C19orf6	19	1014397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2969	1014397	58114586	18259	28576											
CNN2	1265	broad.mit.edu	37	chr19	1032601	1032601	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggccatggtcagctacgGcatgaaccctgtggacctgt	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1032601G>A	ENST00000263097.4	+	4	659	c.296G>A	c.(295-297)gGc>gAc	p.G99D	CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000565096.2_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		GTCAGCTACGGCATGAACCCT	0.577																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(295-297)gGc>gAc		calponin 2							75	68	71					19																	1032601		2203	4300	6503	SO:0001583	missense	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1032601G>A	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.296G>A	19.37:g.1032601G>A	ENSP00000263097:p.Gly99Asp					CNN2_ENST00000565096.2_Missense_Mutation_p.G99D|CNN2_ENST00000562958.2_Missense_Mutation_p.G99D|CNN2_ENST00000348419.3_Missense_Mutation_p.G99D|CNN2_ENST00000606983.1_3'UTR	p.G99D	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	659	+		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)	99			CH.		A5D8U8|A6NFI4|D6W5X9|Q92578	Missense_Mutation	SNP	ENST00000263097.4	37	c.296G>A	CCDS12053.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339530	0.81911	.	.	ENSG00000064666	ENST00000263097;ENST00000348419;ENST00000442531	T;T	0.67171	-0.25;-0.25	4.05	4.05	0.47172	Calponin homology domain (5);	0.000000	0.85682	U	0.000000	D	0.86636	0.5980	H	0.96301	3.8	0.54753	D	0.999987	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.99;0.998;0.996;0.991;0.996	D	0.90803	0.4695	10	0.87932	D	0	.	13.759	0.62954	0.0:0.0:1.0:0.0	.	99;99;99;99;99	B4DUT8;B4DDF4;A6NFI4;Q99439;Q6FHE4	.;.;.;CNN2_HUMAN;.	D	99;99;78	ENSP00000263097:G99D;ENSP00000340129:G99D	ENSP00000263097:G99D	G	+	2	0	CNN2	983601	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.068000	0.93961	1.827000	0.53221	0.306000	0.20318	GGC		0.577	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		51	236	0	0	0	1	0	51	236					A	1032601	G	A	1032601	3	1	79	1	0	0	0	0	1	0	0	0	3619	1203	42	2	310	2	CNN2	19	1032601	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18204	1032601	58096382	18260	28577											
ABCA7	10347	broad.mit.edu	37	chr19	1041388	1041388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggacacagctgatgctgCtgctctggaagaatttcatg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1041388C>T	ENST00000263094.6	+	2	259	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	ABCA7_ENST00000433129.1_Silent_p.L10L|AC011558.5_ENST00000585757.1_RNA|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	10					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)		GCTGATGCTGCTGCTCTGGAA	0.652																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(28-30)Ctg>Ttg		ATP-binding cassette, sub-family A (ABC1), member 7							120	113	115					19																	1041388		2203	4300	6503	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1041388C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.28C>T	19.37:g.1041388C>T						ABCA7_ENST00000433129.1_Silent_p.L10L	p.L10L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	259	+		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)	10					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.28C>T	CCDS12055.1																																																																																				0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		128	581	0	0	0	1	0	128	581					T	1041388	C	T	1041388	2	4	79	1	0	0	0	0	0	0	0	1	37	796	28	2		2	ABCA7	19	1041388	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8787	1041388	58087595	18261	28578											
ABCA7	10347	broad.mit.edu	37	chr19	1042089	1042089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgctagccgatgcccGcactgtgctgggaggggcca	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1042089G>A	ENST00000263094.6	+	5	560	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H|ABCA7_ENST00000435683.2_5'Flank	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	110					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)		GCCGATGCCCGCACTGTGCTG	0.726																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(328-330)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 7							8	9	9					19																	1042089		2145	4197	6342	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1042089G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.329G>A	19.37:g.1042089G>A	ENSP00000263094:p.Arg110His					ABCA7_ENST00000433129.1_Missense_Mutation_p.R110H	p.R110H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	560	+		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)	110					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.329G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784331	0.31593	.	.	ENSG00000064687	ENST00000263094;ENST00000524850;ENST00000531467;ENST00000433129	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	3.47	-6.85	0.01681	.	.	.	.	.	T	0.27765	0.0683	N	0.20986	0.625	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.15752	-1.0426	9	0.39692	T	0.17	.	1.6592	0.02787	0.4479:0.1362:0.2784:0.1375	.	110;110	B4DVJ5;Q8IZY2	.;ABCA7_HUMAN	H	110;110;108;110	ENSP00000263094:R110H;ENSP00000431473:R110H;ENSP00000433545:R108H;ENSP00000414062:R110H	ENSP00000263094:R110H	R	+	2	0	ABCA7	993089	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.244000	0.02902	-1.205000	0.02645	-1.157000	0.01802	CGC		0.726	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		17	97	0	0	0	1	0	17	97					A	1042089	G	A	1042089	3	1	79	1	0	0	0	0	1	0	0	0	37	1087	38	1	343	1	ABCA7	19	1042089	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	701	1042089	58086894	18262	28579											
ABCA7	10347	broad.mit.edu	37	chr19	1043053	1043053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctagctcctggcgctgcGcagcctggtggagcttcggg	15	13	1	0	rs541040666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043053G>A	ENST00000263094.6	+	8	824	c.593G>A	c.(592-594)cGc>cAc	p.R198H	ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	198					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)	p.R198L(1)		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)		CTGGCGCTGCGCAGCCTGGTG	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17346	0.0		0.0	False		,,,				2504	0.0					ENST00000263094.6																			1	Substitution - Missense(1)	p.R198L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(592-594)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 7							28	31	30					19																	1043053		2202	4298	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043053G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.593G>A	19.37:g.1043053G>A	ENSP00000263094:p.Arg198His					ABCA7_ENST00000433129.1_Missense_Mutation_p.R198H|ABCA7_ENST00000435683.2_Missense_Mutation_p.R60H	p.R198H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	824	+		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)	198					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.593G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	5.419	0.262452	0.10294	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86562	-2.14;-2.14	4.1	1.92	0.25849	.	.	.	.	.	T	0.69566	0.3125	N	0.08118	0	0.18873	N	0.999986	B;B	0.33904	0.0;0.431	B;B	0.22152	0.0;0.038	T	0.59521	-0.7439	9	0.48119	T	0.1	.	7.3426	0.26646	0.1915:0.6197:0.1888:0.0	.	60;198	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	H	198	ENSP00000263094:R198H;ENSP00000414062:R198H	ENSP00000263094:R198H	R	+	2	0	ABCA7	994053	0.000000	0.05858	0.978000	0.43139	0.001000	0.01503	0.628000	0.24522	0.344000	0.23847	-1.964000	0.00472	CGC		0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		39	237	0	0	0	1	0	39	237					A	1043053	G	A	1043053	3	1	79	1	0	0	0	0	1	0	0	0	37	1087	38	1	619	1	ABCA7	19	1043053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	964	1043053	58085930	18263	28580											
ABCA7	10347	broad.mit.edu	37	chr19	1043394	1043394	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgctgtcccgcctgctctgGagacgcctgaagcctctgat	11	16	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043394G>A	ENST00000263094.6	+	9	1083	c.852G>A	c.(850-852)tgG>tgA	p.W284*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	284					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)		GCCTGCTCTGGAGACGCCTGA	0.662																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(850-852)tgG>tgA		ATP-binding cassette, sub-family A (ABC1), member 7							53	64	60					19																	1043394		2203	4300	6503	SO:0001587	stop_gained	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043394G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.852G>A	19.37:g.1043394G>A	ENSP00000263094:p.Trp284*					ABCA7_ENST00000433129.1_Nonsense_Mutation_p.W284*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.W146*	p.W284*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1083	+		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)	284					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	ENST00000263094.6	37	c.852G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	36	5.790066	0.96945	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1326	0.65266	0.0:0.0:1.0:0.0	.	.	.	.	X	284	.	ENSP00000263094:W284X	W	+	3	0	ABCA7	994394	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.221000	0.78016	1.937000	0.56155	0.313000	0.20887	TGG		0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		14	648	0	0	0	1	0	14	648					A	1043394	G	A	1043394	4	1	79	1	0	0	0	0	0	1	0	0	37	1183	41	2	882	2	ABCA7	19	1043394	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341	1043394	58085589	18264	28581											
ABCA7	10347	broad.mit.edu	37	chr19	1043455	1043455	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagatacaccttttaccCggaagctcatggcccaggtg	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043455C>T	ENST00000263094.6	+	9	1144	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	305					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)		ACCTTTTACCCGGAAGCTCAT	0.652																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(913-915)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 7							72	82	79					19																	1043455		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043455C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.913C>T	19.37:g.1043455C>T	ENSP00000263094:p.Arg305Trp					ABCA7_ENST00000433129.1_Missense_Mutation_p.R305W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R167W	p.R305W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1144	+		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)	305					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.913C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394187	0.42410	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86164	-2.08;-2.08	4.18	-1.11	0.09840	.	.	.	.	.	D	0.91016	0.7174	M	0.75777	2.31	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.81551	-0.0881	9	0.87932	D	0	.	6.6097	0.22745	0.4667:0.4442:0.0:0.0892	.	167;305	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	W	305	ENSP00000263094:R305W;ENSP00000414062:R305W	ENSP00000263094:R305W	R	+	1	2	ABCA7	994455	0.000000	0.05858	0.274000	0.24659	0.527000	0.34593	-0.337000	0.07852	-0.442000	0.07190	-0.671000	0.03813	CGG		0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		34	823	0	0	0	1	0	34	823					T	1043455	C	T	1043455	3	4	79	1	0	0	0	0	1	0	0	0	37	643	23	1	943	1	ABCA7	19	1043455	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	1043455	58085528	18265	28582											
ABCA7	10347	broad.mit.edu	37	chr19	1045210	1045210	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacattgacgtggtcacgagGaccaataagatcagggacag	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1045210G>A	ENST00000263094.6	+	12	1656	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	ABCA7_ENST00000433129.1_Silent_p.R475R|ABCA7_ENST00000435683.2_Silent_p.R337R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	475					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)		TGGTCACGAGGACCAATAAGA	0.652																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1423-1425)agG>agA		ATP-binding cassette, sub-family A (ABC1), member 7							30	31	31					19																	1045210		2202	4297	6499	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045210G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1425G>A	19.37:g.1045210G>A						ABCA7_ENST00000433129.1_Silent_p.R475R|ABCA7_ENST00000435683.2_Silent_p.R337R	p.R475R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1656	+		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)	475					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1425G>A	CCDS12055.1																																																																																				0.652	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		10	326	0	0	0	1	0	10	326					A	1045210	G	A	1045210	2	1	79	1	0	0	0	0	0	0	0	1	37	1165	41	2		2	ABCA7	19	1045210	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1755	1045210	58083773	18266	28583											
ABCA7	10347	broad.mit.edu	37	chr19	1046243	1046243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggttttgggaccctgGcccagccgcggaccccctga	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046243G>A	ENST00000263094.6	+	13	1691	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	487					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)		TGGGACCCTGGCCCAGCCGCG	0.657																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1459-1461)gGc>gAc		ATP-binding cassette, sub-family A (ABC1), member 7							72	79	76					19																	1046243		2203	4297	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046243G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1460G>A	19.37:g.1046243G>A	ENSP00000263094:p.Gly487Asp					ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.G487D|ABCA7_ENST00000435683.2_Missense_Mutation_p.G349D	p.G487D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1691	+		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)	487					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1460G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.234844	0.58886	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.97959	-4.63;-4.63	4.95	4.95	0.65309	.	.	.	.	.	D	0.98280	0.9430	M	0.62154	1.92	0.45194	D	0.998207	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.831	D	0.99556	1.0967	9	0.87932	D	0	.	15.6578	0.77155	0.0:0.0:1.0:0.0	.	349;487	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	D	487	ENSP00000263094:G487D;ENSP00000414062:G487D	ENSP00000263094:G487D	G	+	2	0	ABCA7	997243	1.000000	0.71417	0.026000	0.17262	0.020000	0.10135	9.650000	0.98490	2.294000	0.77228	0.556000	0.70494	GGC		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		49	1139	0	0	0	1	0	49	1139					A	1046243	G	A	1046243	3	1	79	1	0	0	0	0	1	0	0	0	37	1203	42	2	1506	2	ABCA7	19	1046243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1033	1046243	58082740	18267	28584											
ABCA7	10347	broad.mit.edu	37	chr19	1046403	1046403	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatccgtgctatgtggacgaCgtgtgagctctggcacccct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046403C>T	ENST00000263094.6	+	13	1851	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Silent_p.D402D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	540					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)		ATGTGGACGACGTGTGAGCTC	0.701																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1618-1620)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 7							114	116	116					19																	1046403		2202	4297	6499	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046403C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1620C>T	19.37:g.1046403C>T						ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Silent_p.D540D|ABCA7_ENST00000435683.2_Silent_p.D402D	p.D540D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1851	+		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)	540					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1620C>T	CCDS12055.1																																																																																				0.701	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		127	1415	0	0	0	1	0	127	1415					T	1046403	C	T	1046403	2	4	79	1	0	0	0	0	0	0	0	1	37	535	19	1		1	ABCA7	19	1046403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	1046403	58082580	18268	28585											
HMHA1	23526	broad.mit.edu	37	chr19	1068512	1068512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggccacagggaccctcaagCggcccaccagcctgagccgc	12	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1068512C>T	ENST00000313093.2	+	2	421	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W|HMHA1_ENST00000543365.1_5'Flank	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	64					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)		GACCCTCAAGCGGCCCACCAG	0.731																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(190-192)Cgg>Tgg		histocompatibility (minor) HA-1							5	6	6					19																	1068512		1932	3887	5819	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068512C>T	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.190C>T	19.37:g.1068512C>T	ENSP00000316772:p.Arg64Trp					HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000539243.2_Missense_Mutation_p.R80W|HMHA1_ENST00000586866.1_Missense_Mutation_p.R68W|HMHA1_ENST00000590214.1_Missense_Mutation_p.R91W	p.R64W	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	421	+		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)	64					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.190C>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754701	0.49362	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039	T;T	0.32988	1.43;1.43	4.2	0.564	0.17302	.	0.000000	0.64402	D	0.000001	T	0.51856	0.1699	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.54227	-0.8325	10	0.87932	D	0	-29.3359	12.4539	0.55693	0.6368:0.3632:0.0:0.0	.	80;64	F6QP70;Q92619	.;HMHA1_HUMAN	W	80;64;64;58	ENSP00000439601:R80W;ENSP00000316772:R64W	ENSP00000316772:R64W	R	+	1	2	HMHA1	1019512	1.000000	0.71417	0.796000	0.32109	0.227000	0.25037	0.765000	0.26546	-0.008000	0.14320	0.549000	0.68633	CGG		0.731	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			9	85	0	0	0	1	0	9	85					T	1068512	C	T	1068512	3	4	79	1	0	0	0	0	1	0	0	0	7270	759	27	1	196	1	HMHA1	19	1068512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22109	1068512	58060471	18269	28586											
HMHA1	23526	broad.mit.edu	37	chr19	1073559	1073559	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acaggagttcgagaaggcccTggagacgattgctgtggcct	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073559T>C	ENST00000313093.2	+	4	851	c.620T>C	c.(619-621)cTg>cCg	p.L207P	HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P|HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	207					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)		GAGAAGGCCCTGGAGACGATT	0.602																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(619-621)cTg>cCg		histocompatibility (minor) HA-1							60	53	56					19																	1073559		2202	4300	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073559T>C	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.620T>C	19.37:g.1073559T>C	ENSP00000316772:p.Leu207Pro					HMHA1_ENST00000536472.1_Missense_Mutation_p.L47P|HMHA1_ENST00000539243.2_Missense_Mutation_p.L223P|HMHA1_ENST00000586866.1_Missense_Mutation_p.L211P|HMHA1_ENST00000543365.1_Missense_Mutation_p.L90P|HMHA1_ENST00000590214.1_Missense_Mutation_p.L234P	p.L207P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	851	+		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)	207					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.620T>C	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372450	0.61624	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.25414	1.8;1.84;1.88;1.8	4.24	4.24	0.50183	.	0.095832	0.46145	D	0.000309	T	0.47948	0.1473	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.996	D;D;D;P	0.73708	0.981;0.914;0.974;0.823	T	0.51647	-0.8679	10	0.87932	D	0	-19.7701	12.1537	0.54064	0.0:0.0:0.0:1.0	.	47;223;90;207	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	P	223;207;207;47;201;90	ENSP00000439601:L223P;ENSP00000316772:L207P;ENSP00000445109:L47P;ENSP00000438979:L90P	ENSP00000316772:L207P	L	+	2	0	HMHA1	1024559	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.423000	0.80229	1.540000	0.49301	0.402000	0.26972	CTG		0.602	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			5	185	0	0	0	1	0	5	185					C	1073559	T	C	1073559	3	2	79	1	0	0	0	0	1	0	0	0	7270	1580	55	4	634	4	HMHA1	19	1073559	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5047	1073559	58055424	18270	28587											
HMHA1	23526	broad.mit.edu	37	chr19	1073969	1073969	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaaagcctgtatggacCgggcagtgagggcacgcctc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1073969C>T	ENST00000313093.2	+	6	977	c.746C>T	c.(745-747)cCg>cTg	p.P249L	HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	249					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)		CTGTATGGACCGGGCAGTGAG	0.677																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(745-747)cCg>cTg		histocompatibility (minor) HA-1							14	16	16					19																	1073969		2194	4287	6481	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073969C>T	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.746C>T	19.37:g.1073969C>T	ENSP00000316772:p.Pro249Leu					HMHA1_ENST00000536472.1_Missense_Mutation_p.P89L|HMHA1_ENST00000539243.2_Missense_Mutation_p.P265L|HMHA1_ENST00000586866.1_Missense_Mutation_p.P253L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P132L|HMHA1_ENST00000590214.1_Missense_Mutation_p.P276L	p.P249L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	977	+		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)	249					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.746C>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	8.933	0.963844	0.18583	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.21031	2.04;2.06;2.09;2.03	3.79	-5.7	0.02421	.	2.021690	0.02590	N	0.099859	T	0.12689	0.0308	L	0.31926	0.97	0.09310	N	1	B;P;B;B	0.34864	0.052;0.473;0.344;0.226	B;B;B;B	0.25614	0.012;0.062;0.039;0.028	T	0.21449	-1.0245	10	0.28530	T	0.3	-0.0795	8.0782	0.30729	0.5429:0.3739:0.0:0.0831	.	89;265;132;249	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	L	265;249;249;89;243;132	ENSP00000439601:P265L;ENSP00000316772:P249L;ENSP00000445109:P89L;ENSP00000438979:P132L	ENSP00000316772:P249L	P	+	2	0	HMHA1	1024969	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.461000	0.06712	-0.701000	0.05063	0.491000	0.48974	CCG		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			3	58	0	0	0	1	0	3	58					T	1073969	C	T	1073969	3	4	79	1	0	0	0	0	1	0	0	0	7270	652	23	1	768	1	HMHA1	19	1073969	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	410	1073969	58055014	18271	28588											
HMHA1	23526	broad.mit.edu	37	chr19	1074171	1074171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgtggatgccgcactgCtgtatgccaagaacatggcc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1074171C>T	ENST00000313093.2	+	7	1090	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000586866.1_Silent_p.L291L|HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000590214.1_Silent_p.L314L|HMHA1_ENST00000543365.1_Silent_p.L170L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	287					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)		TGCCGCACTGCTGTATGCCAA	0.652																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(859-861)Ctg>Ttg		histocompatibility (minor) HA-1							69	57	61					19																	1074171		2203	4300	6503	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1074171C>T	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.859C>T	19.37:g.1074171C>T						HMHA1_ENST00000536472.1_Silent_p.L127L|HMHA1_ENST00000539243.2_Silent_p.L303L|HMHA1_ENST00000586866.1_Silent_p.L291L|HMHA1_ENST00000543365.1_Silent_p.L170L|HMHA1_ENST00000590214.1_Silent_p.L314L	p.L287L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1090	+		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)	287					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.859C>T	CCDS32863.1																																																																																				0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			63	311	0	0	0	1	0	63	311					T	1074171	C	T	1074171	2	4	79	1	0	0	0	0	0	0	0	1	7270	796	28	2		2	HMHA1	19	1074171	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	1074171	58054812	18272	28589											
HMHA1	23526	broad.mit.edu	37	chr19	1080691	1080691	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcccgcccaggggactttaaGaagttcgagcggacgtcatc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1080691G>A	ENST00000313093.2	+	16	2154	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K	HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000590577.1_Silent_p.K276K|HMHA1_ENST00000590214.1_Silent_p.K668K|HMHA1_ENST00000543365.1_Silent_p.K524K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	641					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)		GGGACTTTAAGAAGTTCGAGC	0.637																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(1921-1923)aaG>aaA		histocompatibility (minor) HA-1							42	47	45					19																	1080691		2202	4300	6502	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080691G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1923G>A	19.37:g.1080691G>A						HMHA1_ENST00000536472.1_Silent_p.K509K|HMHA1_ENST00000539243.2_Silent_p.K657K|HMHA1_ENST00000586866.1_Silent_p.K645K|HMHA1_ENST00000543365.1_Silent_p.K524K|HMHA1_ENST00000590214.1_Silent_p.K668K|HMHA1_ENST00000590577.1_Silent_p.K276K	p.K641K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2154	+		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)	641					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.1923G>A	CCDS32863.1																																																																																				0.637	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			18	250	0	0	0	1	0	18	250					A	1080691	G	A	1080691	2	1	79	1	0	0	0	0	0	0	0	1	7270	933	33	2		2	HMHA1	19	1080691	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6520	1080691	58048292	18273	28590											
HMHA1	23526	broad.mit.edu	37	chr19	1081636	1081636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggccgcctgcagctgttcGgccaggacttcagccacgcg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1081636G>A	ENST00000313093.2	+	18	2509	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S|HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	760					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)		GCAGCTGTTCGGCCAGGACTT	0.677																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2278-2280)Ggc>Agc		histocompatibility (minor) HA-1							6	8	7					19																	1081636		2147	4220	6367	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1081636G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2278G>A	19.37:g.1081636G>A	ENSP00000316772:p.Gly760Ser					HMHA1_ENST00000536472.1_Missense_Mutation_p.G628S|HMHA1_ENST00000539243.2_Missense_Mutation_p.G776S|HMHA1_ENST00000586866.1_Missense_Mutation_p.G764S|HMHA1_ENST00000543365.1_Missense_Mutation_p.G643S|HMHA1_ENST00000590214.1_Missense_Mutation_p.G787S|HMHA1_ENST00000590577.1_Missense_Mutation_p.G395S	p.G760S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2509	+		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)	760					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2278G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	g	25.9	4.684633	0.88639	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.37584	1.21;1.23;1.22;1.19	4.4	4.4	0.53042	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;0.999	T	0.74084	-0.3779	10	0.87932	D	0	-34.3441	15.9856	0.80151	0.0:0.0:1.0:0.0	.	628;776;395;643;760	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	S	776;760;760;628;754;643	ENSP00000439601:G776S;ENSP00000316772:G760S;ENSP00000445109:G628S;ENSP00000438979:G643S	ENSP00000316772:G760S	G	+	1	0	HMHA1	1032636	1.000000	0.71417	0.998000	0.56505	0.429000	0.31625	9.114000	0.94329	1.993000	0.58246	0.550000	0.68814	GGC		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			8	41	0	0	0	1	0	8	41					A	1081636	G	A	1081636	3	1	79	1	0	0	0	0	1	0	0	0	7270	1116	39	1	2348	1	HMHA1	19	1081636	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	945	1081636	58047347	18274	28591											
POLR2E	5434	broad.mit.edu	37	chr19	1089931	1089931	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccacagggtcccccgcctgGatcctgggcagctggttctc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1089931G>A	ENST00000215587.7	-	6	802	c.519C>T	c.(517-519)atC>atT	p.I173I	POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	173					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		CCCCCGCCTGGATCCTGGGCA	0.662																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(517-519)atC>atT		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							24	30	28					19																	1089931		2203	4299	6502	SO:0001819	synonymous_variant	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1089931G>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"RNA polymerase subunits"	9192	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 23 kda polypeptide"	180664	"polymerase (RNA) II (DNA directed) polypeptide E (25kD)"			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.519C>T	19.37:g.1089931G>A						POLR2E_ENST00000586746.1_Silent_p.I173I|POLR2E_ENST00000585838.1_5'UTR	p.I173I			P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	802	-		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)	173					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	ENST00000215587.7	37	c.519C>T	CCDS12056.1																																																																																				0.662	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		35	173	0	0	0	1	0	35	173					A	1089931	G	A	1089931	2	1	79	1	0	0	0	0	0	0	0	1	12260	1164	41	2		2	POLR2E	19	1089931	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8295	1089931	58039052	18275	28592											
POLR2E	5434	broad.mit.edu	37	chr19	1093977	1093977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgaggtccgtgcgccgcGgccgcccctcactcggcttg	15	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1093977G>A	ENST00000215587.7	-	2	441	c.158C>T	c.(157-159)cCg>cTg	p.P53L	POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L|POLR2E_ENST00000585838.1_5'Flank			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	53					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		CGTGCGCCGCGGCCGCCCCTC	0.642																																						ENST00000215587.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11						c.(157-159)cCg>cTg		polymerase (RNA) II (DNA directed) polypeptide E, 25kDa							42	36	38					19																	1093977		2202	4300	6502	SO:0001583	missense	5434				interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	g.chr19:1093977G>A		CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"RNA polymerase subunits"	9192	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 23 kda polypeptide"	180664	"polymerase (RNA) II (DNA directed) polypeptide E (25kD)"			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.158C>T	19.37:g.1093977G>A	ENSP00000215587:p.Pro53Leu					POLR2E_ENST00000586746.1_Missense_Mutation_p.P53L	p.P53L			P19388	RPAB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	441	-		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)	53					B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Missense_Mutation	SNP	ENST00000215587.7	37	c.158C>T	CCDS12056.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466162	0.84425	.	.	ENSG00000099817	ENST00000215587	T	0.43688	0.94	3.64	3.64	0.41730	RNA polymerase, Rpb5, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.78285	2.405	0.80722	D	1	D	0.63880	0.993	P	0.58210	0.835	T	0.62148	-0.6915	10	0.36615	T	0.2	-7.8213	14.4829	0.67594	0.0:0.0:1.0:0.0	.	53	P19388	RPAB1_HUMAN	L	53	ENSP00000215587:P53L	ENSP00000215587:P53L	P	-	2	0	POLR2E	1044977	1.000000	0.71417	0.934000	0.37439	0.915000	0.54546	6.883000	0.75595	1.884000	0.54569	0.511000	0.50034	CCG		0.642	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458044.1	NM_002695		37	182	0	0	0	1	0	37	182					A	1093977	G	A	1093977	3	1	79	1	0	0	0	0	1	0	0	0	12260	1116	39	1	498	1	POLR2E	19	1093977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4046	1093977	58035006	18276	28593											
SBNO2	22904	broad.mit.edu	37	chr19	1109544	1109544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcataggggcccgtcagCgccagcgacttggcaaaggc	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109544C>T	ENST00000361757.3	-	28	3414	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SBNO2_ENST00000587024.1_Silent_p.A1049A|SBNO2_ENST00000438103.2_Silent_p.A1002A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1059					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)		GGCCCGTCAGCGCCAGCGACT	0.731																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3175-3177)gcG>gcA		strawberry notch homolog 2 (Drosophila)							7	9	8					19																	1109544		1863	4049	5912	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1109544C>T	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.3177G>A	19.37:g.1109544C>T						SBNO2_ENST00000438103.2_Silent_p.A1002A|SBNO2_ENST00000587024.1_Silent_p.A1049A	p.A1059A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	28	3414	-		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)	1059					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.3177G>A	CCDS45894.1																																																																																				0.731	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		8	50	0	0	0	1	0	8	50					T	1109544	C	T	1109544	2	4	79	1	0	0	0	0	0	0	0	1	13913	755	27	1		1	SBNO2	19	1109544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15567	1109544	58019439	18277	28594											
SBNO2	22904	broad.mit.edu	37	chr19	1109688	1109688	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcttcctgctgaccttgtaGaagaccacctgcccgtcctg	10	15	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109688G>T	ENST00000361757.3	-	27	3354	c.3117C>A	c.(3115-3117)ttC>ttA	p.F1039L	SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L|SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1039					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)		TGACCTTGTAGAAGACCACCT	0.682																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(3115-3117)ttC>ttA		strawberry notch homolog 2 (Drosophila)							35	41	39					19																	1109688		1903	4115	6018	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1109688G>T	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.3117C>A	19.37:g.1109688G>T	ENSP00000354733:p.Phe1039Leu					SBNO2_ENST00000438103.2_Missense_Mutation_p.F982L|SBNO2_ENST00000587024.1_Missense_Mutation_p.F1029L	p.F1039L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3354	-		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)	1039					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.3117C>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	1.265	-0.614791	0.03663	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.18	0.536	0.17138	.	0.115356	0.64402	N	0.000012	T	0.10337	0.0253	N	0.03029	-0.43	0.26794	N	0.969336	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.34104	-0.9842	9	0.02654	T	1	-21.3351	5.3231	0.15891	0.1923:0.1637:0.644:0.0	.	1039;982	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	L	1039;982;1057	.	ENSP00000250872:F1057L	F	-	3	2	SBNO2	1060688	0.830000	0.29337	1.000000	0.80357	0.602000	0.36980	-0.159000	0.10056	0.201000	0.20466	-0.379000	0.06801	TTC		0.682	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		18	188	1	0	3.32936e-07	1	3.45006e-07	18	188					T	1109688	G	T	1109688	3	4	79	1	0	0	0	0	1	0	0	0	13913	933	33	3	1007	3	SBNO2	19	1109688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144	1109688	58019295	18278	28595											
SBNO2	22904	broad.mit.edu	37	chr19	1112468	1112468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcacgcggcgccgctgGttctggacacggcggtcggc	17	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112468G>A	ENST00000361757.3	-	21	2685	c.2448C>T	c.(2446-2448)aaC>aaT	p.N816N	SBNO2_ENST00000587024.1_Silent_p.N806N|SBNO2_ENST00000438103.2_Silent_p.N759N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	816					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)		GGCGCCGCTGGTTCTGGACAC	0.706																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2446-2448)aaC>aaT		strawberry notch homolog 2 (Drosophila)							13	20	17					19																	1112468		2026	4147	6173	SO:0001819	synonymous_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1112468G>A	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.2448C>T	19.37:g.1112468G>A						SBNO2_ENST00000438103.2_Silent_p.N759N|SBNO2_ENST00000587024.1_Silent_p.N806N	p.N816N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2685	-		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)	816					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	ENST00000361757.3	37	c.2448C>T	CCDS45894.1																																																																																				0.706	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		18	77	0	0	0	1	0	18	77					A	1112468	G	A	1112468	2	1	79	1	0	0	0	0	0	0	0	1	13913	1252	44	2		2	SBNO2	19	1112468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2780	1112468	58016515	18279	28596											
SBNO2	22904	broad.mit.edu	37	chr19	1112481	1112481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgctggttctggacacggCggtcggcttggagggagaca	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112481C>T	ENST00000361757.3	-	21	2672	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H|SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	812					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)		CTGGACACGGCGGTCGGCTTG	0.706																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2434-2436)cGc>cAc		strawberry notch homolog 2 (Drosophila)							12	19	17					19																	1112481		2012	4139	6151	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1112481C>T	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.2435G>A	19.37:g.1112481C>T	ENSP00000354733:p.Arg812His					SBNO2_ENST00000438103.2_Missense_Mutation_p.R755H|SBNO2_ENST00000587024.1_Missense_Mutation_p.R802H	p.R812H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2672	-		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)	812					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2435G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777001	0.90195	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.76316	-1.01;-1.01	4.89	4.89	0.63831	.	0.060647	0.64402	D	0.000003	D	0.88325	0.6406	M	0.89095	3.005	0.31949	N	0.609907	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.89777	0.3958	10	0.56958	D	0.05	-25.5626	10.6635	0.45717	0.0:0.9113:0.0:0.0887	.	812;755	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	H	812;755;819	ENSP00000354733:R812H;ENSP00000400762:R755H	ENSP00000250872:R819H	R	-	2	0	SBNO2	1063481	0.999000	0.42202	0.901000	0.35422	0.840000	0.47671	3.834000	0.55798	2.265000	0.75225	0.448000	0.29417	CGC		0.706	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		17	79	0	0	0	1	0	17	79					T	1112481	C	T	1112481	3	4	79	1	0	0	0	0	1	0	0	0	13913	768	27	1	1713	1	SBNO2	19	1112481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13	1112481	58016502	18280	28597											
SBNO2	22904	broad.mit.edu	37	chr19	1112516	1112516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagacacccgagctggaggcCtccgagatgatggccacgag	15	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112516C>A	ENST00000361757.3	-	21	2637	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D|SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	800					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)		AGCTGGAGGCCTCCGAGATGA	0.701																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(2398-2400)gaG>gaT		strawberry notch homolog 2 (Drosophila)							13	18	17					19																	1112516		2013	4158	6171	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1112516C>A	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.2400G>T	19.37:g.1112516C>A	ENSP00000354733:p.Glu800Asp					SBNO2_ENST00000438103.2_Missense_Mutation_p.E743D|SBNO2_ENST00000587024.1_Missense_Mutation_p.E790D	p.E800D	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	21	2637	-		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)	800					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.2400G>T	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203957	0.95033	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	N	0.17345	0.48	0.45995	D	0.998807	P;P	0.44429	0.835;0.802	P;P	0.49637	0.617;0.482	T	0.67011	-0.5778	10	0.36615	T	0.2	-35.3467	17.03	0.86458	0.0:1.0:0.0:0.0	.	800;743	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	D	800;743;807	ENSP00000354733:E800D;ENSP00000400762:E743D	ENSP00000250872:E807D	E	-	3	2	SBNO2	1063516	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.577000	0.23758	2.265000	0.75225	0.448000	0.29417	GAG		0.701	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		14	82	1	0	2.31682e-05	1	2.36778e-05	14	82					A	1112516	C	A	1112516	3	1	79	1	0	0	0	0	1	0	0	0	13913	680	24	3	1748	3	SBNO2	19	1112516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	1112516	58016467	18281	28598											
SBNO2	22904	broad.mit.edu	37	chr19	1119096	1119096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacgccggagaagctgaGctggcgtgcgatgtacatgc	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1119096G>T	ENST00000361757.3	-	14	1678	c.1441C>A	c.(1441-1443)Ctc>Atc	p.L481I	SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I|SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	481					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)		GAGAAGCTGAGCTGGCGTGCG	0.672																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1441-1443)Ctc>Atc		strawberry notch homolog 2 (Drosophila)							34	43	40					19																	1119096		2196	4291	6487	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119096G>T	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.1441C>A	19.37:g.1119096G>T	ENSP00000354733:p.Leu481Ile					SBNO2_ENST00000438103.2_Missense_Mutation_p.L424I|SBNO2_ENST00000587024.1_Missense_Mutation_p.L481I	p.L481I	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1678	-		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)	481					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.1441C>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903094	0.92035	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.83778	0.5328	M	0.88842	2.985	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.982	D	0.87589	0.2489	9	0.72032	D	0.01	-29.7548	15.375	0.74598	0.0:0.0:1.0:0.0	.	481;481;424	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	I	481;424;505	.	ENSP00000250872:L505I	L	-	1	0	SBNO2	1070096	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.421000	0.97455	2.160000	0.67779	0.462000	0.41574	CTC		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		23	63	1	0	2.21704e-12	1	2.37967e-12	23	63					T	1119096	G	T	1119096	3	4	79	1	0	0	0	0	1	0	0	0	13913	971	34	3	2735	3	SBNO2	19	1119096	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6580	1119096	58009887	18282	28599											
STK11	6794	broad.mit.edu	37	chr19	1206967	1206967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacggagggcgagctgatgTcggtgggtatggacacgttc	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1206967T>C	ENST00000326873.7	+	1	1228	c.55T>C	c.(55-57)Tcg>Ccg	p.S19P	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	19					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.?(3)		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)		CGAGCTGATGTCGGTGGGTAT	0.662		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"D, Mis, N, F, S"	serine/threonine kinase 11 gene (LKB1)			"E, M, O"		"jejunal harmartoma, ovarian, testicular, pancreatic"	"NSCLC, pancreatic"		23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	p.0?(20)|p.?(3)	cervix(15)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.(55-57)Tcg>Ccg		serine/threonine kinase 11							20	24	23					19																	1206967		2067	4198	6265	SO:0001583	missense	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1206967T>C	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.55T>C	19.37:g.1206967T>C	ENSP00000324856:p.Ser19Pro	TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_Intron	p.S19P	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1228	+		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)	19					B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.55T>C	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165459	0.57476	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87571	-2.27	3.9	2.84	0.33178	.	0.000000	0.51477	D	0.000089	T	0.80763	0.4685	L	0.44542	1.39	0.41654	D	0.989144	B	0.06786	0.001	B	0.08055	0.003	T	0.72450	-0.4290	10	0.44086	T	0.13	-9.5019	9.3951	0.38397	0.0:0.0:0.1802:0.8198	.	19	Q15831	STK11_HUMAN	P	19	ENSP00000324856:S19P	ENSP00000324856:S19P	S	+	1	0	STK11	1157967	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.717000	0.54911	0.362000	0.24319	0.379000	0.24179	TCG		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		16	72	0	0	0	1	0	16	72					C	1206967	T	C	1206967	3	2	79	1	0	0	0	0	1	0	0	0	15339	1667	58	4	57	4	STK11	19	1206967	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	87871	1206967	57922016	18283	28600											
C19orf26	255057	broad.mit.edu	37	chr19	1235045	1235045	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctctgctcaaacagcgccGcctcattgaaggagacccgg	12	14	3	2	rs534006111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1235045G>A	ENST00000382477.2	-	5	666	c.392C>T	c.(391-393)gCg>gTg	p.A131V	C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V|C19orf26_ENST00000590083.1_Missense_Mutation_p.A137V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	131						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACAGCGCCGCCTCATTGAA	0.697										HNSCC(14;0.022)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		10680	0.0		0.0	False		,,,				2504	0.0					ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(409-411)gCg>gTg		chromosome 19 open reading frame 26							22	25	24					19																	1235045		2194	4295	6489	SO:0001583	missense	255057					integral to membrane		g.chr19:1235045G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"downstream of STK11"					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.392C>T	19.37:g.1235045G>A	ENSP00000371917:p.Ala131Val	HNSCC(14;0.022)				C19orf26_ENST00000382477.2_Missense_Mutation_p.A131V|C19orf26_ENST00000215376.6_Missense_Mutation_p.A131V	p.A137V			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	702	-		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)	131					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.410C>T		.	.	.	.	.	.	.	.	.	.	G	18.75	3.691138	0.68271	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	.	0.284806	0.32120	N	0.006547	T	0.54240	0.1846	N	0.14661	0.345	0.53005	D	0.999967	D	0.89917	1.0	D	0.69479	0.964	T	0.63019	-0.6730	9	0.72032	D	0.01	.	14.4186	0.67168	0.0:0.0:1.0:0.0	.	131	Q8N350-2	.	V	131	.	ENSP00000215376:A131V	A	-	2	0	C19orf26	1186045	1.000000	0.71417	0.975000	0.42487	0.171000	0.22731	8.771000	0.91751	2.026000	0.59711	0.561000	0.74099	GCG		0.697	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		18	148	0	0	0	1	0	18	148					A	1235045	G	A	1235045	3	1	79	1	0	0	0	0	1	0	0	0	1923	1087	38	1	971	1	C19orf26	19	1235045	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28078	1235045	57893938	18284	28601											
NDUFS7	374291	broad.mit.edu	37	chr19	1391124	1391124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcctctcttccaggtctacGaccagatgccggagccgcgc	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1391124G>A	ENST00000233627.9	+	6	711	c.415G>A	c.(415-417)Gac>Aac	p.D139N	AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000313408.7_Missense_Mutation_p.D139N|NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|AC005329.7_ENST00000501448.1_RNA	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	139					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid 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)	Doxorubicin(DB00997)	CCAGGTCTACGACCAGATGCC	0.692																																						ENST00000313408.7																			0				ovary(1)	1						c.(415-417)Gac>Aac		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						23	25	24					19																	1391124		2201	4299	6500	SO:0001583	missense	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1391124G>A	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"Mitochondrial respiratory chain complex / Complex I"	7714	protein-coding gene	gene with protein product	"complex I 20kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"	601825	"NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.415G>A	19.37:g.1391124G>A	ENSP00000233627:p.Asp139Asn					NDUFS7_ENST00000539480.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000546283.1_Missense_Mutation_p.D139N|NDUFS7_ENST00000414651.2_Missense_Mutation_p.D169N|NDUFS7_ENST00000233627.9_Missense_Mutation_p.D139N|NDUFS7_ENST00000540530.1_3'UTR	p.D139N			O75251	NDUS7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	438	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	139					B3KRI2|Q2T9H7|Q9BV17	Missense_Mutation	SNP	ENST00000233627.9	37	c.415G>A	CCDS12063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.316424|2.316424	0.40996|0.40996	.|.	.|.	ENSG00000115286|ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000414651;ENST00000538929;ENST00000538523;ENST00000540530;ENST00000535382|ENST00000450862	T;T;T;T;T|.	0.78481|.	-1.18;-0.99;-1.18;-1.18;-1.18|.	4.44|4.44	4.44|4.44	0.53790|0.53790	NADH:ubiquinone oxidoreductase-like, 20kDa subunit (2);|.	.|.	.|.	.|.	.|.	T|T	0.66396|0.66396	0.2785|0.2785	M|M	0.82630|0.82630	2.6|2.6	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|.	0.87578|.	0.988;0.994;0.998;0.991|.	T|T	0.65092|0.65092	-0.6252|-0.6252	9|6	0.87932|0.02654	D|T	0|1	.|.	10.4224|10.4224	0.44359|0.44359	0.0977:0.0:0.9023:0.0|0.0977:0.0:0.9023:0.0	.|.	139;146;139;139|.	F5H5N1;Q8NAS7;B3KRI2;O75251|.	.;.;.;NDUS7_HUMAN|.	N|Q	139;139;139;139;169;58;58;58;58|140	ENSP00000440348:D139N;ENSP00000233627:D139N;ENSP00000443273:D139N;ENSP00000364262:D139N;ENSP00000406630:D169N|.	ENSP00000233627:D139N|ENSP00000388398:R140Q	D|R	+|+	1|2	0|0	NDUFS7|NDUFS7	1342124|1342124	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.176000|0.176000	0.22953|0.22953	7.182000|7.182000	0.77689|0.77689	2.016000|2.016000	0.59253|0.59253	0.511000|0.511000	0.50034|0.50034	GAC|CGA		0.692	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407		32	93	0	0	0	1	0	32	93					A	1391124	G	A	1391124	3	1	79	1	0	0	0	0	1	0	0	0	10339	1058	37	1	437	1	NDUFS7	19	1391124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156079	1391124	57737859	18285	28602											
APC2	10297	broad.mit.edu	37	chr19	1465269	1465269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgtcggcccgcagcGcccgtgaccaggagctgctg	15	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1465269G>A	ENST00000535453.1	+	14	3682	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.A383T|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.A657T			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)		GGCCCGCAGCGCCCGTGACCA	0.652																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1969-1971)Gcc>Acc		adenomatosis polyposis coli 2							22	20	21					19																	1465269		2183	4289	6472	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1465269G>A		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.1969G>A	19.37:g.1465269G>A	ENSP00000442954:p.Ala657Thr					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.A657T|APC2_ENST00000238483.4_Missense_Mutation_p.A383T	p.A657T			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3682	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	657					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.1969G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528135	0.27299	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.65549	-0.16;0.83;-0.16	4.65	-2.29	0.06805	Armadillo-like helical (1);Armadillo-type fold (1);	0.405928	0.26262	N	0.025385	T	0.43567	0.1253	L	0.27053	0.805	0.80722	D	1	P;P	0.43231	0.801;0.7	B;B	0.31016	0.123;0.058	T	0.48958	-0.8988	10	0.45353	T	0.12	-12.6912	20.324	0.98686	0.0:0.2256:0.7744:0.0	.	656;657	O95996-3;O95996	.;APC2_HUMAN	T	657;383;657	ENSP00000233607:A657T;ENSP00000238483:A383T;ENSP00000442954:A657T	ENSP00000233607:A657T	A	+	1	0	APC2	1416269	0.070000	0.21116	0.532000	0.27989	0.255000	0.26057	-0.266000	0.08631	-0.246000	0.09611	0.462000	0.41574	GCC		0.652	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		22	120	0	0	0	1	0	22	120					A	1465269	G	A	1465269	3	1	79	1	0	0	0	0	1	0	0	0	764	1087	38	1	2023	1	APC2	19	1465269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74145	1465269	57663714	18286	28603											
APC2	10297	broad.mit.edu	37	chr19	1466480	1466480	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcactgcagaaactggcggcGcaagaggggccactctcgct	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466480G>A	ENST00000535453.1	+	14	4893	c.3180G>A	c.(3178-3180)gcG>gcA	p.A1060A	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.A786A|APC2_ENST00000233607.2_Silent_p.A1060A			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)		AACTGGCGGCGCAAGAGGGGC	0.687																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(3178-3180)gcG>gcA		adenomatosis polyposis coli 2							8	11	10					19																	1466480		2017	4030	6047	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466480G>A		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.3180G>A	19.37:g.1466480G>A						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.A1060A|APC2_ENST00000238483.4_Silent_p.A786A	p.A1060A			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	4893	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1060			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.3180G>A	CCDS12068.1																																																																																				0.687	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		20	101	0	0	0	1	0	20	101					A	1466480	G	A	1466480	2	1	79	1	0	0	0	0	0	0	0	1	764	1074	38	1		1	APC2	19	1466480	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1211	1466480	57662503	18287	28604											
APC2	10297	broad.mit.edu	37	chr19	1466897	1466897	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcagccctagcgagctgccCgacagccccggacagaccat	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466897C>T	ENST00000535453.1	+	14	5310	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.P925P|APC2_ENST00000233607.2_Silent_p.P1199P			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)		GCGAGCTGCCCGACAGCCCCG	0.711																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(3595-3597)ccC>ccT		adenomatosis polyposis coli 2							8	8	8					19																	1466897		2134	4239	6373	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1466897C>T		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.3597C>T	19.37:g.1466897C>T						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.P1199P|APC2_ENST00000238483.4_Silent_p.P925P	p.P1199P			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	5310	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1199			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.3597C>T	CCDS12068.1																																																																																				0.711	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		11	48	0	0	0	1	0	11	48					T	1466897	C	T	1466897	2	4	79	1	0	0	0	0	0	0	0	1	764	639	23	1		1	APC2	19	1466897	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	417	1466897	57662086	18288	28605											
APC2	10297	broad.mit.edu	37	chr19	1467872	1467872	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccggcggccgcgcccacGccaacccaccggcgcacatc	10	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467872G>A	ENST00000535453.1	+	14	6285	c.4572G>A	c.(4570-4572)acG>acA	p.T1524T	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Silent_p.T1250T|APC2_ENST00000233607.2_Silent_p.T1524T			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)		CCGCGCCCACGCCAACCCACC	0.721																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(4570-4572)acG>acA		adenomatosis polyposis coli 2							5	7	7					19																	1467872		1924	3898	5822	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1467872G>A		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.4572G>A	19.37:g.1467872G>A						C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.T1524T|APC2_ENST00000238483.4_Silent_p.T1250T	p.T1524T			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	6285	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1524			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.4572G>A	CCDS12068.1																																																																																				0.721	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		20	81	0	0	0	1	0	20	81					A	1467872	G	A	1467872	2	1	79	1	0	0	0	0	0	0	0	1	764	1074	38	1		1	APC2	19	1467872	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	975	1467872	57661111	18289	28606											
APC2	10297	broad.mit.edu	37	chr19	1467886	1467886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgccaacccaccggcGcacatcggccatccctcgcg	9	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467886G>A	ENST00000535453.1	+	14	6299	c.4586G>A	c.(4585-4587)cGc>cAc	p.R1529H	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R1255H|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H			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)		ACCCACCGGCGCACATCGGCC	0.736																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(4585-4587)cGc>cAc		adenomatosis polyposis coli 2							6	8	7					19																	1467886		1972	3956	5928	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1467886G>A		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.4586G>A	19.37:g.1467886G>A	ENSP00000442954:p.Arg1529His					C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.R1529H|APC2_ENST00000238483.4_Missense_Mutation_p.R1255H	p.R1529H			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	6299	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1529			5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.4586G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430216	0.43122	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92699	-3.09;-2.74;-3.09	3.32	0.576	0.17380	.	2.002530	0.02410	N	0.081577	D	0.87977	0.6314	L	0.44542	1.39	0.19575	N	0.999969	B;B	0.19935	0.04;0.024	B;B	0.08055	0.003;0.001	T	0.73874	-0.3845	10	0.62326	D	0.03	-13.3497	4.1126	0.10065	0.5113:0.0:0.4887:0.0	.	1528;1529	O95996-3;O95996	.;APC2_HUMAN	H	1529;1255;1529	ENSP00000233607:R1529H;ENSP00000238483:R1255H;ENSP00000442954:R1529H	ENSP00000233607:R1529H	R	+	2	0	APC2	1418886	0.001000	0.12720	0.047000	0.18901	0.003000	0.03518	0.861000	0.27885	0.521000	0.28445	-0.436000	0.05848	CGC		0.736	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		13	88	0	0	0	1	0	13	88					A	1467886	G	A	1467886	3	1	79	1	0	0	0	0	1	0	0	0	764	1087	38	1	4640	1	APC2	19	1467886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14	1467886	57661097	18290	28607											
PCSK4	54760	broad.mit.edu	37	chr19	1483417	1483417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagttgtggaggccggcGcaggccgatacgttttccct	15	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1483417G>A	ENST00000300954.5	-	12	1498	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C	CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCGGCGCAGGCCGATA	0.687																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1435-1437)tgC>tgT		proprotein convertase subtilisin/kexin type 4							24	28	26					19																	1483417		2174	4237	6411	SO:0001819	synonymous_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1483417G>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.1437C>T	19.37:g.1483417G>A							p.C479C	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1498	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	479						Silent	SNP	ENST00000300954.5	37	c.1437C>T	CCDS12069.2																																																																																				0.687	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		80	261	0	0	0	1	0	80	261					A	1483417	G	A	1483417	2	1	79	1	0	0	0	0	0	0	0	1	11644	1079	38	1		1	PCSK4	19	1483417	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15531	1483417	57645566	18291	28608											
PCSK4	54760	broad.mit.edu	37	chr19	1486949	1486949	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcggccctgctgggtggtgCtgcccacggaaagcgtgtgg	18	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1486949C>A	ENST00000300954.5	-	8	1032	c.971G>T	c.(970-972)aGc>aTc	p.S324I	PCSK4_ENST00000587784.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTGGTGCTGCCCACGGA	0.672																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(970-972)aGc>aTc		proprotein convertase subtilisin/kexin type 4							84	70	75					19																	1486949		2203	4300	6503	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1486949C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.971G>T	19.37:g.1486949C>A	ENSP00000300954:p.Ser324Ile						p.S324I	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1032	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	324			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.971G>T	CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522650	0.64747	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	D	0.83419	-1.72	2.71	2.71	0.32032	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.64402	U	0.000013	D	0.93539	0.7938	H	0.97315	3.98	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94710	0.7891	10	0.87932	D	0	.	12.2145	0.54398	0.0:1.0:0.0:0.0	.	324;136	Q6UW60;B3KQ28	PCSK4_HUMAN;.	I	324;136	ENSP00000300954:S324I	ENSP00000300954:S324I	S	-	2	0	PCSK4	1437949	1.000000	0.71417	0.997000	0.53966	0.538000	0.34931	4.703000	0.61824	1.221000	0.43506	0.313000	0.20887	AGC		0.672	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		88	364	1	0	4.02937e-33	1	4.77023e-33	88	364					A	1486949	C	A	1486949	3	1	79	1	0	0	0	0	1	0	0	0	11644	797	28	3	1328	3	PCSK4	19	1486949	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3532	1486949	57642034	18292	28609											
PCSK4	54760	broad.mit.edu	37	chr19	1487861	1487861	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatagctggccagggggtcCtgggggcaggtggggatatg	20	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1487861C>A	ENST00000300954.5	-	5	578		c.e5-1		PCSK4_ENST00000587784.1_Splice_Site|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGGTCCTGGGGGCAGG	0.692																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.e5-1		proprotein convertase subtilisin/kexin type 4							11	14	13					19																	1487861		2149	4260	6409	SO:0001630	splice_region_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1487861C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.517-1G>T	19.37:g.1487861C>A						PCSK4_ENST00000587784.1_Splice_Site		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	578	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)							Splice_Site	SNP	ENST00000300954.5	37		CCDS12069.2	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797892	0.50208	.	.	ENSG00000115257	ENST00000300954;ENST00000441747	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7328	0.51748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCSK4	1438861	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	7.471000	0.80985	1.501000	0.48654	0.491000	0.48974	.		0.692	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573	Intron	40	141	1	0	1.69901e-12	1	1.82497e-12	40	141					A	1487861	C	A	1487861	5	1	79	1	0	0	0	0	0	0	1	0	11644	695	24	3	1795	3	PCSK4	19	1487861	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	1487861	57641122	18293	28610											
PCSK4	54760	broad.mit.edu	37	chr19	1488000	1488000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtggtccttctcgatgCcatcgtccagcacagagacc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1488000C>A	ENST00000300954.5	-	4	540	c.479G>T	c.(478-480)gGc>gTc	p.G160V	PCSK4_ENST00000587784.1_5'UTR|CTB-25B13.6_ENST00000585643.1_RNA	NM_017573.3	NP_060043.2			proprotein convertase subtilisin/kexin type 4											cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGATGCCATCGTCCAG	0.677																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(478-480)gGc>gTc		proprotein convertase subtilisin/kexin type 4							90	89	89					19																	1488000		2203	4300	6503	SO:0001583	missense	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1488000C>A	AK057235	CCDS12069.2	19p13.3	2008-02-05			ENSG00000115257	ENSG00000115257			8746	protein-coding gene	gene with protein product		600487				7782070	Standard	XM_005259586		Approved	PC4, SPC5, DKFZp434B217, MGC34749	uc002ltb.1	Q6UW60	OTTHUMG00000128541	ENST00000300954.5:c.479G>T	19.37:g.1488000C>A	ENSP00000300954:p.Gly160Val					PCSK4_ENST00000587784.1_5'UTR	p.G160V	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	540	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	160			Catalytic (By similarity).			Missense_Mutation	SNP	ENST00000300954.5	37	c.479G>T	CCDS12069.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.198276|3.198276	0.58126|0.58126	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|D	.|0.97710	.|-4.5	2.67|2.67	2.67|2.67	0.31697|0.31697	.|Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	.|0.000000	.|0.50627	.|D	.|0.000109	D|D	0.98998|0.98998	0.9658|0.9658	H|H	0.97186|0.97186	3.955|3.955	0.80722|0.80722	D|D	1|1	P|D	0.43750|0.89917	0.816|1.0	B|D	0.26864|0.97110	0.074|1.0	D|D	0.98703|0.98703	1.0701|1.0701	8|10	0.13853|0.87932	T|D	0.58|0	.|.	11.0356|11.0356	0.47799|0.47799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2|160	B3KQ28|Q6UW60	.|PCSK4_HUMAN	S|V	2|160	.|ENSP00000300954:G160V	ENSP00000402772:A2S|ENSP00000300954:G160V	A|G	-|-	1|2	0|0	PCSK4|PCSK4	1439000|1439000	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.692000|0.692000	0.40212|0.40212	7.471000|7.471000	0.80985|0.80985	1.501000|1.501000	0.48654|0.48654	0.491000|0.491000	0.48974|0.48974	GCA|GGC		0.677	PCSK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449703.1	NM_017573		155	669	1	0	4.44197e-71	1	5.64539e-71	155	669					A	1488000	C	A	1488000	3	1	79	1	0	0	0	0	1	0	0	0	11644	739	26	3	1836	3	PCSK4	19	1488000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139	1488000	57640983	18294	28611											
MBD3	53615	broad.mit.edu	37	chr19	1578415	1578415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcgtcgtcgtcctcaGcgcaggccttgtccagcggc	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1578415G>A	ENST00000434436.3	-	6	929	c.800C>T	c.(799-801)gCt>gTt	p.A267V	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|MBD3_ENST00000590550.2_Missense_Mutation_p.A211V|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V|AC005943.5_ENST00000588960.1_lincRNA|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	267					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)		gtcgtcctcAGCGCAGGCCTT	0.716																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(631-633)gCt>gTt		methyl-CpG binding domain protein 3							36	35	35					19																	1578415		2203	4300	6503	SO:0001583	missense	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578415G>A	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.800C>T	19.37:g.1578415G>A	ENSP00000412302:p.Ala267Val					MBD3_ENST00000592012.1_Missense_Mutation_p.A235V|MBD3_ENST00000434436.3_Missense_Mutation_p.A267V|MBD3_ENST00000156825.1_Missense_Mutation_p.A267V	p.A211V			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1005	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	267					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	ENST00000434436.3	37	c.632C>T	CCDS12072.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535481	0.64972	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98493	-4.96	4.32	-2.66	0.06077	.	0.849959	0.10277	N	0.694043	D	0.92293	0.7555	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84772	0.0768	10	0.66056	D	0.02	-1.199	1.1137	0.01710	0.2568:0.2808:0.3202:0.1423	.	235;267	O95983-2;O95983	.;MBD3_HUMAN	V	235;267	ENSP00000156825:A267V	ENSP00000156825:A267V	A	-	2	0	MBD3	1529415	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	0.207000	0.17395	-0.314000	0.08716	0.313000	0.20887	GCT		0.716	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		53	252	0	0	0	1	0	53	252					A	1578415	G	A	1578415	3	1	79	1	0	0	0	0	1	0	0	0	9385	971	34	2	79	2	MBD3	19	1578415	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90415	1578415	57550568	18295	28612											
TCF3	6929	broad.mit.edu	37	chr19	1615357	1615357	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcagtttggtctggggcttCtcgctgttgaggtgcagttg	16	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1615357C>A	ENST00000262965.5	-	18	2093	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000588136.1_Intron	NM_003200.3	NP_003191.1	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)		TCTGGGGCTTCTCGCTGTTGA	0.642			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1747-1749)gaG>gaT		transcription factor 3							92	90	91					19																	1615357		2203	4300	6503	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615357C>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1749G>T	19.37:g.1615357C>A	ENSP00000262965:p.Glu583Asp					TCF3_ENST00000395423.3_Missense_Mutation_p.E587D|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	p.E583D	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2093	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	583			Helix-loop-helix motif.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.1749G>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	3.049	-0.195757	0.06259	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.97959	-4.63;-4.63	4.32	1.97	0.26223	Helix-loop-helix DNA-binding (5);	0.233607	0.43110	N	0.000618	D	0.90553	0.7039	N	0.02685	-0.53	0.80722	D	1	B;P;B	0.40376	0.0;0.715;0.002	B;P;B	0.46685	0.003;0.524;0.027	D	0.87914	0.2699	10	0.02654	T	1	-14.8527	5.9245	0.19101	0.0:0.6186:0.0:0.3814	.	583;587;520	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	D	583;587	ENSP00000262965:E583D;ENSP00000378813:E587D	ENSP00000262965:E583D	E	-	3	2	TCF3	1566357	0.949000	0.32298	0.999000	0.59377	0.994000	0.84299	-0.017000	0.12590	0.777000	0.33496	0.555000	0.69702	GAG		0.642	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		23	572	1	0	5.26018e-13	1	5.6673e-13	23	572					A	1615357	C	A	1615357	3	1	79	1	0	0	0	0	1	0	0	0	15746	912	32	3	454	3	TCF3	19	1615357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36942	1615357	57513626	18296	28613											
TCF3	6929	broad.mit.edu	37	chr19	1625590	1625590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctaggctgccgtctgCcgctctccgccgggagctgc	12	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1625590C>T	ENST00000262965.5	-	7	828	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TCF3_ENST00000453954.2_Missense_Mutation_p.A78T|TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCGTCTGCCGCTCTCCGC	0.697			T	"PBX1, HLF, TFPT"	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"PBX1, HLF, TFPT"		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(484-486)Gca>Aca		transcription factor 3							10	12	11					19																	1625590		2175	4270	6445	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1625590C>T	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.484G>A	19.37:g.1625590C>T	ENSP00000262965:p.Ala162Thr					TCF3_ENST00000395423.3_Missense_Mutation_p.A111T|TCF3_ENST00000588136.1_Missense_Mutation_p.A162T|TCF3_ENST00000344749.5_Missense_Mutation_p.A162T|TCF3_ENST00000453954.2_Missense_Mutation_p.A78T	p.A162T	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	828	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	162					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.484G>A	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103203	0.08731	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.55234	0.53;0.53;0.53	4.52	3.48	0.39840	.	0.287580	0.34628	N	0.003805	T	0.41259	0.1151	L	0.46157	1.445	0.32262	N	0.570039	B;B;P	0.37688	0.269;0.012;0.605	B;B;B	0.34093	0.088;0.012;0.175	T	0.52275	-0.8597	10	0.39692	T	0.17	-13.5314	9.4074	0.38471	0.0:0.898:0.0:0.102	.	162;162;111	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	T	162;162;162;111	ENSP00000262965:A162T;ENSP00000344375:A162T;ENSP00000378813:A111T	ENSP00000262965:A162T	A	-	1	0	TCF3	1576590	0.883000	0.30277	0.250000	0.24296	0.053000	0.15095	1.336000	0.33850	0.886000	0.36113	0.561000	0.74099	GCA		0.697	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		19	65	0	0	0	1	0	19	65					T	1625590	C	T	1625590	3	4	79	1	0	0	0	0	1	0	0	0	15746	739	26	2	1763	2	TCF3	19	1625590	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10233	1625590	57503393	18297	28614											
ATP8B3	148229	broad.mit.edu	37	chr19	1785269	1785269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcgccacgcacagggCggtccagtacttgatgataa	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1785269C>T	ENST00000310127.6	-	27	3659	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A1151T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1141					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)		ACGCACAGGGCGGTCCAGTAC	0.602																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(3451-3453)Gcc>Acc		ATPase, aminophospholipid transporter, class I, type 8B, member 3							43	52	49					19																	1785269		2194	4294	6488	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785269C>T	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.3421G>A	19.37:g.1785269C>T	ENSP00000311336:p.Ala1141Thr					ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1141T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1104T	p.A1151T			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3684	-		Hepatocellular(1079;0.137)	1141					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3451G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068881	0.20147	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58797	0.31;0.31;0.31	4.49	-3.01	0.05463	.	0.680336	0.14630	N	0.307895	T	0.28134	0.0694	L	0.33624	1.015	0.09310	N	1	P;P	0.40282	0.659;0.711	B;B	0.27170	0.056;0.077	T	0.26052	-1.0114	10	0.19590	T	0.45	.	2.3471	0.04274	0.2432:0.4546:0.1267:0.1755	.	1141;1104	O60423;Q7Z485	AT8B3_HUMAN;.	T	1141;1151;1104	ENSP00000311336:A1141T;ENSP00000443574:A1151T;ENSP00000437115:A1104T	ENSP00000311336:A1141T	A	-	1	0	ATP8B3	1736269	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.631000	0.05496	-0.019000	0.14055	0.655000	0.94253	GCC		0.602	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		4	91	0	0	0	1	0	4	91					T	1785269	C	T	1785269	3	4	79	1	0	0	0	0	1	0	0	0	1197	768	27	1	493	1	ATP8B3	19	1785269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	159679	1785269	57343714	18298	28615											
ATP8B3	148229	broad.mit.edu	37	chr19	1796824	1796824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgaggtgcagcagggccgCattgtggaagagcagcttcc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1796824C>T	ENST00000310127.6	-	16	1877	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T|ATP8B3_ENST00000539485.1_Missense_Mutation_p.A547T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	547					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)		AGCAGGGCCGCATTGTGGAAG	0.706																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1639-1641)Gcg>Acg		ATPase, aminophospholipid transporter, class I, type 8B, member 3							30	36	34					19																	1796824		2069	4177	6246	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1796824C>T	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.1639G>A	19.37:g.1796824C>T	ENSP00000311336:p.Ala547Thr					ATP8B3_ENST00000310127.6_Missense_Mutation_p.A547T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A500T	p.A547T			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	1872	-		Hepatocellular(1079;0.137)	547					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1639G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273873	0.23221	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.64085	-0.08;-0.08;-0.08	3.63	-7.26	0.01466	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	1.801560	0.03175	U	0.171296	T	0.40398	0.1115	L	0.39692	1.235	0.09310	N	1	P;B	0.39352	0.669;0.27	B;B	0.34931	0.192;0.192	T	0.45323	-0.9269	10	0.17832	T	0.49	.	0.5644	0.00684	0.3518:0.1859:0.2576:0.2047	.	547;500	O60423;Q7Z485	AT8B3_HUMAN;.	T	547;547;500	ENSP00000311336:A547T;ENSP00000443574:A547T;ENSP00000437115:A500T	ENSP00000311336:A547T	A	-	1	0	ATP8B3	1747824	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.078000	0.00299	-2.174000	0.00772	-0.258000	0.10820	GCG		0.706	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		37	156	0	0	0	1	0	37	156					T	1796824	C	T	1796824	3	4	79	1	0	0	0	0	1	0	0	0	1197	710	25	2	2349	2	ATP8B3	19	1796824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11555	1796824	57332159	18299	28616											
ATP8B3	148229	broad.mit.edu	37	chr19	1805955	1805955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggccagcaagagcatgtcGgcctggtgtggagtgggggg	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1805955G>A	ENST00000310127.6	-	9	991	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ATP8B3_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000526092.2_Silent_p.A198A|ATP8B3_ENST00000539485.1_Silent_p.A251A	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	251					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)		AGAGCATGTCGGCCTGGTGTG	0.662																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(751-753)gcC>gcT		ATPase, aminophospholipid transporter, class I, type 8B, member 3							30	34	32					19																	1805955		2065	4182	6247	SO:0001819	synonymous_variant	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1805955G>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.753C>T	19.37:g.1805955G>A						ATP8B3_ENST00000310127.6_Silent_p.A251A|ATP8B3_ENST00000525591.1_Silent_p.A198A|ATP8B3_ENST00000526092.1_Silent_p.A198A	p.A251A			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	986	-		Hepatocellular(1079;0.137)	251					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	ENST00000310127.6	37	c.753C>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	g	0.596	-0.830887	0.02713	.	.	ENSG00000130270	ENST00000533993	.	.	.	3.75	-3.8	0.04307	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33059	-0.9883	4	.	.	.	.	1.676	0.02822	0.3007:0.1065:0.3783:0.2145	.	.	.	.	L	214	.	.	P	-	2	0	ATP8B3	1756955	0.000000	0.05858	0.869000	0.34112	0.153000	0.21895	-2.113000	0.01331	-0.804000	0.04410	-1.644000	0.00765	CCG		0.662	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		29	194	0	0	0	1	0	29	194					A	1805955	G	A	1805955	2	1	79	1	0	0	0	0	0	0	0	1	1197	1103	39	1		1	ATP8B3	19	1805955	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9131	1805955	57323028	18300	28617											
REXO1	57455	broad.mit.edu	37	chr19	1819095	1819095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacctgccccccaacaCcacctcgtgggacacaaccc	7	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1819095C>T	ENST00000170168.4	-	8	2780	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	CTB-31O20.4_ENST00000593201.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	896						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)		CCCCCCAACACCACCTCGTGG	0.667																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2686-2688)Gtg>Atg		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							37	38	38					19																	1819095		2203	4298	6501	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1819095C>T	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.2686G>A	19.37:g.1819095C>T	ENSP00000170168:p.Val896Met						p.V896M	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	2780	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	896					Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.2686G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955945	0.73902	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.16597	2.33	3.98	2.91	0.33838	.	0.000000	0.64402	U	0.000001	T	0.26231	0.0640	L	0.53249	1.67	0.52501	D	0.999958	P;P	0.51057	0.941;0.874	B;P	0.53146	0.374;0.719	T	0.02150	-1.1205	10	0.72032	D	0.01	-18.672	10.5817	0.45259	0.1932:0.8068:0.0:0.0	.	205;896	B4DWY3;Q8N1G1	.;REXO1_HUMAN	M	896;168	ENSP00000170168:V896M	ENSP00000170168:V896M	V	-	1	0	REXO1	1770095	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.543000	0.60684	0.992000	0.38840	0.561000	0.74099	GTG		0.667	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		44	178	0	0	0	1	0	44	178					T	1819095	C	T	1819095	3	4	79	1	0	0	0	0	1	0	0	0	13291	507	18	2	1015	2	REXO1	19	1819095	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13140	1819095	57309888	18301	28618											
REXO1	57455	broad.mit.edu	37	chr19	1820033	1820033	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctggggctgcggtcataGgccaccttctcctcgttcag	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1820033G>T	ENST00000170168.4	-	7	2644	c.2550C>A	c.(2548-2550)gcC>gcA	p.A850A	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	850						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)		TGCGGTCATAGGCCACCTTCT	0.682																																						ENST00000170168.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(2548-2550)gcC>gcA		REX1, RNA exonuclease 1 homolog (S. cerevisiae)							37	35	36					19																	1820033		2203	4300	6503	SO:0001819	synonymous_variant	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1820033G>T	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.2550C>A	19.37:g.1820033G>T							p.A850A	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	2644	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	850					Q9ULT2	Silent	SNP	ENST00000170168.4	37	c.2550C>A	CCDS32866.1																																																																																				0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695		13	242	1	0	2.27111e-07	1	2.35674e-07	13	242					T	1820033	G	T	1820033	2	4	79	1	0	0	0	0	0	0	0	1	13291	987	35	3		3	REXO1	19	1820033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	938	1820033	57308950	18302	28619											
FAM108A1	81926	broad.mit.edu	37	chr19	1881373	1881373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaggtgcagcttccagcGcccgggtgcgcccgaggagg	17	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1881373G>A	ENST00000292577.7	-	2	626	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ABHD17A_ENST00000590661.1_Missense_Mutation_p.R65C|ABHD17A_ENST00000250974.9_Missense_Mutation_p.R65C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	65						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGCTTCCAGCGCCCGGGTGCG	0.731																																						ENST00000292577.7																			0											c.(193-195)Cgc>Tgc		abhydrolase domain containing 17A							9	11	10					19																	1881373		2059	4142	6201	SO:0001583	missense	81926							g.chr19:1881373G>A	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.193C>T	19.37:g.1881373G>A	ENSP00000292577:p.Arg65Cys					ABHD17A_ENST00000250974.9_Missense_Mutation_p.R65C|ABHD17A_ENST00000590661.1_Missense_Mutation_p.R65C	p.R65C	NM_001130111.1	NP_001123583.1					2	626	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	c.193C>T	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.394954	0.25205	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.33865	1.39;1.45	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.43554	1.36	0.80722	D	1	B;B;B;B	0.23442	0.009;0.085;0.048;0.085	B;B;B;B	0.15870	0.004;0.013;0.014;0.013	T	0.18903	-1.0322	10	0.66056	D	0.02	-37.6608	10.516	0.44889	0.0:0.0:0.8065:0.1935	.	65;65;65;65	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	C	65	ENSP00000250974:R65C;ENSP00000292577:R65C	ENSP00000250974:R65C	R	-	1	0	FAM108A1	1832373	0.840000	0.29493	0.899000	0.35326	0.297000	0.27493	0.502000	0.22594	2.108000	0.64289	0.561000	0.74099	CGC		0.731	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		24	148	0	0	0	1	0	24	148					A	1881373	G	A	1881373	3	1	79	1	0	0	0	0	1	0	0	0	5412	1087	38	1	912	1	FAM108A1	19	1881373	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61340	1881373	57247610	18303	28620											
BTBD2	55643	broad.mit.edu	37	chr19	1986857	1986857	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaggccgtgtagttgAcgttgggcagcacctccacc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1986857A>G	ENST00000255608.4	-	8	1404	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	AC005306.3_ENST00000587498.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	463						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		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)		CGTGTAGTTGACGTTGGGCAG	0.662																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(1387-1389)gTc>gCc		BTB (POZ) domain containing 2							51	51	51					19																	1986857		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1986857A>G	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.1388T>C	19.37:g.1986857A>G	ENSP00000255608:p.Val463Ala						p.V463A	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1404	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	463					O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.1388T>C	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773697	0.31411	.	.	ENSG00000133243	ENST00000255608	T	0.74632	-0.86	4.7	3.68	0.42216	PHR (1);	0.059770	0.64402	D	0.000003	T	0.67979	0.2951	L	0.52011	1.625	0.58432	D	0.999998	P	0.36222	0.544	B	0.38683	0.279	T	0.65010	-0.6272	10	0.40728	T	0.16	-44.8083	9.631	0.39778	0.9167:0.0:0.0833:0.0	.	463	Q9BX70	BTBD2_HUMAN	A	463	ENSP00000255608:V463A	ENSP00000255608:V463A	V	-	2	0	BTBD2	1937857	1.000000	0.71417	0.161000	0.22692	0.023000	0.10783	7.112000	0.77086	0.920000	0.36970	0.459000	0.35465	GTC		0.662	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			58	271	0	0	0	1	0	58	271					G	1986857	A	G	1986857	3	3	79	1	0	0	0	0	1	0	0	0	1547	275	10	4	197	4	BTBD2	19	1986857	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105484	1986857	57142126	18304	28621											
BTBD2	55643	broad.mit.edu	37	chr19	1990071	1990071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccttgcccagaaccttcCgcctgttctctggcgtcacc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1990071C>T	ENST00000255608.4	-	5	936	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	307				R -> L (in Ref. 6; CAB96527). {ECO:0000305}.		cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		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)		CAGAACCTTCCGCCTGTTCTC	0.637																																						ENST00000255608.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12						c.(919-921)cGg>cAg		BTB (POZ) domain containing 2							50	45	47					19																	1990071		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1990071C>T	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.920G>A	19.37:g.1990071C>T	ENSP00000255608:p.Arg307Gln					AC005306.3_ENST00000588480.1_RNA|AC005306.3_ENST00000587498.1_RNA	p.R307Q	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	936	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	307	R -> L (in Ref. 6; CAB96527).				O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.920G>A	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.870013	0.72065	.	.	ENSG00000133243	ENST00000255608	T	0.68331	-0.32	4.23	3.19	0.36642	BTB/Kelch-associated (2);	0.056295	0.64402	D	0.000003	T	0.70945	0.3282	M	0.79805	2.47	0.53005	D	0.999964	P	0.43578	0.811	P	0.46208	0.507	T	0.72151	-0.4377	10	0.44086	T	0.13	-26.2441	11.1606	0.48514	0.0:0.9091:0.0:0.0909	.	307	Q9BX70	BTBD2_HUMAN	Q	307	ENSP00000255608:R307Q	ENSP00000255608:R307Q	R	-	2	0	BTBD2	1941071	1.000000	0.71417	0.947000	0.38551	0.648000	0.38561	4.679000	0.61649	0.998000	0.38996	0.549000	0.68633	CGG		0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			5	213	0	0	0	1	0	5	213					T	1990071	C	T	1990071	3	4	79	1	0	0	0	0	1	0	0	0	1547	652	23	1	677	1	BTBD2	19	1990071	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3214	1990071	57138912	18305	28622											
MKNK2	2872	broad.mit.edu	37	chr19	2043157	2043157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacaccaggtagaagcgGtcctcctcctcgaagaactc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2043157G>A	ENST00000591601.1	-	6	494	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK2_ENST00000250896.3_Silent_p.D153D|MKNK2_ENST00000541165.1_Silent_p.D22D|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.D153D			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	153	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGAAGCGGTCCTCCTCCT	0.627																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(457-459)gaC>gaT		MAP kinase interacting serine/threonine kinase 2							145	144	145					19																	2043157		2203	4300	6503	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2043157G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.459C>T	19.37:g.2043157G>A						MKNK2_ENST00000591601.1_Silent_p.D153D|MKNK2_ENST00000309340.7_Silent_p.D153D|MKNK2_ENST00000541165.1_Silent_p.D22D	p.D153D	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	703	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	153			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.459C>T	CCDS12080.1																																																																																				0.627	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		197	902	0	0	0	1	0	197	902					A	2043157	G	A	2043157	2	1	79	1	0	0	0	0	0	0	0	1	9646	1252	44	2		2	MKNK2	19	2043157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53086	2043157	57085826	18306	28623											
MOBKL2A	126308	broad.mit.edu	37	chr19	2076822	2076822	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcaccagtggctccagCtccttggtgtcgatgaggcc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076822C>A	ENST00000357066.3	-	4	991	c.612G>T	c.(610-612)gaG>gaT	p.E204D	MOB3A_ENST00000592280.1_Missense_Mutation_p.E204D|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	204						intracellular (GO:0005622)	metal ion binding (GO:0046872)										GTGGCTCCAGCTCCTTGGTGT	0.642																																						ENST00000357066.3																			0											c.(610-612)gaG>gaT		MOB kinase activator 3A							64	56	59					19																	2076822		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2076822C>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.612G>T	19.37:g.2076822C>A	ENSP00000349575:p.Glu204Asp					MOB3A_ENST00000592280.1_Missense_Mutation_p.E204D|MOB3A_ENST00000592143.1_Intron	p.E204D	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	991	-			204					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.612G>T	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623587	0.66901	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.5	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.72894	2.215	0.58432	D	0.999999	D	0.63880	0.993	P	0.59889	0.865	T	0.60974	-0.7156	9	0.34782	T	0.22	-41.7599	6.7848	0.23668	0.0:0.6766:0.0:0.3234	.	204	Q96BX8	MOB3A_HUMAN	D	204	.	ENSP00000349575:E204D	E	-	3	2	MOBKL2A	2027822	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.270000	0.33086	0.698000	0.31739	0.491000	0.48974	GAG		0.642	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		20	188	1	0	4.96729e-08	1	5.17613e-08	20	188					A	2076822	C	A	2076822	3	1	79	1	0	0	0	0	1	0	0	0	9725	796	28	3	49	3	MOBKL2A	19	2076822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33665	2076822	57052161	18307	28624											
MOBKL2A	126308	broad.mit.edu	37	chr19	2076839	2076839	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctccttggtgtcgatgaGgccgaactccttgacgaaat	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076839G>T	ENST00000357066.3	-	4	974	c.595C>A	c.(595-597)Ctc>Atc	p.L199I	MOB3A_ENST00000592280.1_Missense_Mutation_p.L199I|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	199						intracellular (GO:0005622)	metal ion binding (GO:0046872)										GTGTCGATGAGGCCGAACTCC	0.627																																						ENST00000357066.3																			0											c.(595-597)Ctc>Atc		MOB kinase activator 3A							78	67	70					19																	2076839		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2076839G>T	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.595C>A	19.37:g.2076839G>T	ENSP00000349575:p.Leu199Ile					MOB3A_ENST00000592280.1_Missense_Mutation_p.L199I|MOB3A_ENST00000592143.1_Intron	p.L199I	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	974	-			199					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.595C>A	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350545	0.82132	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.5	3.5	0.40072	.	0.000000	0.64402	D	0.000001	T	0.77890	0.4198	M	0.89601	3.045	0.58432	D	0.999996	P	0.39157	0.662	P	0.56216	0.794	T	0.80032	-0.1552	9	0.66056	D	0.02	-53.1518	7.9122	0.29798	0.1187:0.0:0.8813:0.0	.	199	Q96BX8	MOB3A_HUMAN	I	199	.	ENSP00000349575:L199I	L	-	1	0	MOBKL2A	2027839	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.244000	0.72391	1.816000	0.52996	0.491000	0.48974	CTC		0.627	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		43	195	1	0	1.23103e-26	1	1.41986e-26	43	195					T	2076839	G	T	2076839	3	4	79	1	0	0	0	0	1	0	0	0	9725	1000	35	3	66	3	MOBKL2A	19	2076839	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17	2076839	57052144	18308	28625											
MOBKL2A	126308	broad.mit.edu	37	chr19	2078330	2078330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccgtcgctgatggtgCcgtagatgaggttgacgcgg	17	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2078330C>A	ENST00000357066.3	-	3	609	c.230G>T	c.(229-231)gGc>gTc	p.G77V	MOB3A_ENST00000592280.1_Missense_Mutation_p.G77V|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	77						intracellular (GO:0005622)	metal ion binding (GO:0046872)										GCTGATGGTGCCGTAGATGAG	0.637																																						ENST00000357066.3																			0											c.(229-231)gGc>gTc		MOB kinase activator 3A							83	70	74					19																	2078330		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2078330C>A	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.230G>T	19.37:g.2078330C>A	ENSP00000349575:p.Gly77Val					MOB3A_ENST00000592280.1_Missense_Mutation_p.G77V|MOB3A_ENST00000592143.1_Intron	p.G77V	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			3	609	-			77					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.230G>T	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705448	0.89018	.	.	ENSG00000172081	ENST00000357066	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94005	0.7279	9	0.87932	D	0	-50.1314	15.7938	0.78394	0.0:1.0:0.0:0.0	.	77	Q96BX8	MOB3A_HUMAN	V	77	.	ENSP00000349575:G77V	G	-	2	0	MOBKL2A	2029330	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.454000	0.80714	2.301000	0.77427	0.555000	0.69702	GGC		0.637	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		56	277	1	0	4.02871e-13	1	4.34349e-13	56	277					A	2078330	C	A	2078330	3	1	79	1	0	0	0	0	1	0	0	0	9725	739	26	3	435	3	MOBKL2A	19	2078330	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1491	2078330	57050653	18309	28626											
C19orf36	113177	broad.mit.edu	37	chr19	2098087	2098087	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatctcctgcaacaactGcacagactcgcacgtcgcct	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2098087G>A	ENST00000395301.3	+	5	498	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	IZUMO4_ENST00000588003.1_Intron|IZUMO4_ENST00000395307.2_Missense_Mutation_p.C145Y|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	145						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGCAACAACTGCACAGACTCG	0.637																																						ENST00000395307.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						c.(433-435)tGc>tAc		IZUMO family member 4							192	186	188					19																	2098087		2203	4300	6503	SO:0001583	missense	113177					extracellular region		g.chr19:2098087G>A	BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"-"	26950	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 36"	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.434G>A	19.37:g.2098087G>A	ENSP00000378712:p.Cys145Tyr					IZUMO4_ENST00000395301.3_Missense_Mutation_p.C145Y|IZUMO4_ENST00000588003.1_Intron	p.C145Y	NM_001031735.2	NP_001026905.2	Q1ZYL8	IZUM4_HUMAN			5	999	+			145					A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	ENST00000395301.3	37	c.434G>A	CCDS42458.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571898	0.65765	.	.	ENSG00000099840	ENST00000395307;ENST00000300960;ENST00000395301	T;T;T	0.63096	-0.02;-0.02;-0.02	3.69	3.69	0.42338	.	0.000000	0.40728	N	0.001030	T	0.66287	0.2774	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.70026	-0.4985	10	0.87932	D	0	-29.0525	11.6414	0.51235	0.0:0.0:1.0:0.0	.	145;145	A7RA93;Q1ZYL8	.;IZUM4_HUMAN	Y	192;145;145	ENSP00000378718:C192Y;ENSP00000300960:C145Y;ENSP00000378712:C145Y	ENSP00000300960:C145Y	C	+	2	0	IZUMO4	2049087	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.429000	0.59901	1.993000	0.58246	0.561000	0.74099	TGC		0.637	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280536.3	NM_052878		292	1316	0	0	0	1	0	292	1316					A	2098087	G	A	2098087	3	1	79	1	0	0	0	0	1	0	0	0	1928	1319	46	2	452	2	C19orf36	19	2098087	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19757	2098087	57030896	18310	28627											
AP3D1	8943	broad.mit.edu	37	chr19	2116654	2116654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccggtgcttgggacgccGctgctcctcctcgtggaaga	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2116654G>A	ENST00000345016.5	-	17	2182	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W|AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000355272.6_Missense_Mutation_p.R651W	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	651					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)		TTGGGACGCCGCTGCTCCTCC	0.697																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1951-1953)Cgg>Tgg		adaptor-related protein complex 3, delta 1 subunit							27	29	28					19																	2116654		2111	4230	6341	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2116654G>A	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.1951C>T	19.37:g.2116654G>A	ENSP00000344055:p.Arg651Trp					AP3D1_ENST00000345016.5_Missense_Mutation_p.R651W|AP3D1_ENST00000356926.4_Missense_Mutation_p.R560W|AP3D1_ENST00000350812.6_Missense_Mutation_p.R482W	p.R651W	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	2157	-		Hepatocellular(1079;0.137)	651					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1951C>T	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319203	0.41096	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.64618	2.13;-0.11;1.49;-0.11	5.16	1.7	0.24286	Armadillo-like helical (1);	0.156867	0.56097	D	0.000035	T	0.71048	0.3294	M	0.65975	2.015	0.24027	N	0.996123	D;B;D	0.76494	0.999;0.173;0.998	P;B;D	0.65987	0.854;0.111;0.94	T	0.61739	-0.7001	10	0.59425	D	0.04	-33.7094	8.0557	0.30604	0.0973:0.0:0.3076:0.595	.	651;651;560	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	W	560;651;651;651;482	ENSP00000349398:R560W;ENSP00000344055:R651W;ENSP00000347416:R651W;ENSP00000342321:R482W	ENSP00000341579:R651W	R	-	1	2	AP3D1	2067654	0.920000	0.31207	0.061000	0.19648	0.152000	0.21847	1.782000	0.38654	0.008000	0.14787	0.561000	0.74099	CGG		0.697	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			19	66	0	0	0	1	0	19	66					A	2116654	G	A	2116654	3	1	79	1	0	0	0	0	1	0	0	0	746	1086	38	1	1724	1	AP3D1	19	2116654	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18567	2116654	57012329	18311	28628											
AP3D1	8943	broad.mit.edu	37	chr19	2121030	2121030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtccagcatttgggcggCgatgaggtggccgtgccgtg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121030C>T	ENST00000345016.5	-	14	1543	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T|AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000355272.6_Missense_Mutation_p.A438T|AP3D1_ENST00000590683.1_5'Flank	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	438					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)		ATTTGGGCGGCGATGAGGTGG	0.662																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1312-1314)Gcc>Acc		adaptor-related protein complex 3, delta 1 subunit							61	69	66					19																	2121030		2174	4272	6446	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121030C>T	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.1312G>A	19.37:g.2121030C>T	ENSP00000344055:p.Ala438Thr					AP3D1_ENST00000345016.5_Missense_Mutation_p.A438T|AP3D1_ENST00000356926.4_Missense_Mutation_p.A347T|AP3D1_ENST00000350812.6_Missense_Mutation_p.A269T	p.A438T	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1518	-		Hepatocellular(1079;0.137)	438					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1312G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992887	0.93167	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.67	4.67	0.58626	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.74023	0.866;0.97;0.982	T	0.68029	-0.5517	10	0.72032	D	0.01	-8.4116	16.537	0.84375	0.0:1.0:0.0:0.0	.	438;438;347	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	T	347;438;438;438;269	ENSP00000349398:A347T;ENSP00000344055:A438T;ENSP00000347416:A438T;ENSP00000342321:A269T	ENSP00000341579:A438T	A	-	1	0	AP3D1	2072030	1.000000	0.71417	0.658000	0.29665	0.674000	0.39518	7.641000	0.83368	2.161000	0.67846	0.462000	0.41574	GCC		0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			53	265	0	0	0	1	0	53	265					T	2121030	C	T	2121030	3	4	79	1	0	0	0	0	1	0	0	0	746	768	27	1	2375	1	AP3D1	19	2121030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4376	2121030	57007953	18312	28629											
AP3D1	8943	broad.mit.edu	37	chr19	2121812	2121812	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggatgaggtccttgTgggactgcacggacttgggg	17	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121812T>C	ENST00000345016.5	-	12	1253	c.1022A>G	c.(1021-1023)cAc>cGc	p.H341R	AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R|AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000355272.6_Missense_Mutation_p.H341R|AP3D1_ENST00000590683.1_5'UTR	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	341					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)		GAGGTCCTTGTGGGACTGCAC	0.637																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1021-1023)cAc>cGc		adaptor-related protein complex 3, delta 1 subunit							126	144	138					19																	2121812		2137	4221	6358	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121812T>C	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1022A>G	19.37:g.2121812T>C	ENSP00000344055:p.His341Arg					AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000345016.5_Missense_Mutation_p.H341R|AP3D1_ENST00000356926.4_Missense_Mutation_p.H250R|AP3D1_ENST00000350812.6_Missense_Mutation_p.H172R	p.H341R	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1228	-		Hepatocellular(1079;0.137)	341					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.1022A>G	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802321	0.90538	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.39	4.39	0.52855	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45716	0.1356	M	0.94101	3.495	0.80722	D	1	P;D;P	0.53885	0.903;0.963;0.921	P;D;P	0.67103	0.699;0.949;0.851	T	0.59172	-0.7504	10	0.72032	D	0.01	-49.3114	13.0686	0.59048	0.0:0.0:0.0:1.0	.	341;341;250	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	R	250;341;341;341;172	ENSP00000349398:H250R;ENSP00000344055:H341R;ENSP00000347416:H341R;ENSP00000342321:H172R	ENSP00000341579:H341R	H	-	2	0	AP3D1	2072812	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.813000	0.86123	1.759000	0.51996	0.379000	0.24179	CAC		0.637	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			147	682	0	0	0	1	0	147	682					C	2121812	T	C	2121812	3	2	79	1	0	0	0	0	1	0	0	0	746	1696	59	4	2673	4	AP3D1	19	2121812	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	782	2121812	57007171	18313	28630											
DOT1L	84444	broad.mit.edu	37	chr19	2220181	2220181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcagattggtgctaatgcCcacggtgctgggagcagaag	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2220181C>T	ENST00000398665.3	+	23	2802	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	922					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)		GTGCTAATGCCCACGGTGCTG	0.627																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2764-2766)gcC>gcT		DOT1-like histone H3K79 methyltransferase							48	57	54					19																	2220181		2042	4181	6223	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2220181C>T	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.2766C>T	19.37:g.2220181C>T							p.A922A	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2802	+		Hepatocellular(1079;0.137)	922					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.2766C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411334	0.42817	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.62	2.41	0.29592	.	.	.	.	.	T	0.46308	0.1386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	-2.577	3.6293	0.08126	0.1783:0.5458:0.0:0.2758	.	.	.	.	L	709	.	.	P	+	2	0	DOT1L	2171181	1.000000	0.71417	0.190000	0.23270	0.917000	0.54804	1.439000	0.35013	0.366000	0.24427	0.462000	0.41574	CCC		0.627	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		12	200	0	0	0	1	0	12	200					T	2220181	C	T	2220181	2	4	79	1	0	0	0	0	0	0	0	1	4725	610	22	2		2	DOT1L	19	2220181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98369	2220181	56908802	18314	28631											
DOT1L	84444	broad.mit.edu	37	chr19	2226809	2226809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaacctcttcatctctgCggcggccgtgcctcccggaa	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226809C>T	ENST00000398665.3	+	27	4325	c.4289C>T	c.(4288-4290)gCg>gTg	p.A1430V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1430					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)		TTCATCTCTGCGGCGGCCGTG	0.746																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4288-4290)gCg>gTg		DOT1-like histone H3K79 methyltransferase							13	20	18					19																	2226809		1897	4090	5987	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226809C>T	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.4289C>T	19.37:g.2226809C>T	ENSP00000381657:p.Ala1430Val						p.A1430V	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4325	+		Hepatocellular(1079;0.137)	1430					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.4289C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188769	0.57909	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.41400	1.41;1.0	4.42	4.42	0.53409	.	0.000000	0.49305	D	0.000148	T	0.61800	0.2376	M	0.64997	1.995	0.31257	N	0.693341	D;D	0.89917	1.0;0.999	D;D	0.78314	0.962;0.991	T	0.68530	-0.5384	10	0.87932	D	0	-12.0797	16.0032	0.80310	0.0:1.0:0.0:0.0	.	1430;1430	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	1430;1430;310	ENSP00000381657:A1430V;ENSP00000407411:A310V	ENSP00000221482:A1430V	A	+	2	0	DOT1L	2177809	0.999000	0.42202	0.626000	0.29213	0.026000	0.11368	6.321000	0.72881	2.003000	0.58678	0.561000	0.74099	GCG		0.746	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		43	191	0	0	0	1	0	43	191					T	2226809	C	T	2226809	3	4	79	1	0	0	0	0	1	0	0	0	4725	768	27	1	4395	1	DOT1L	19	2226809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6628	2226809	56902174	18315	28632											
DOT1L	84444	broad.mit.edu	37	chr19	2226885	2226885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgcaggcggcgcggcGtcctccgcccagacgcaccg	13	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226885G>A	ENST00000398665.3	+	27	4401	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1455					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)		GCGGCGCGGCGTCCTCCGCCC	0.756																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(4363-4365)gcG>gcA		DOT1-like histone H3K79 methyltransferase							8	11	10					19																	2226885		1781	3872	5653	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2226885G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4365G>A	19.37:g.2226885G>A							p.A1455A	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	4401	+		Hepatocellular(1079;0.137)	1455					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.4365G>A	CCDS42460.1																																																																																				0.756	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		38	125	0	0	0	1	0	38	125					A	2226885	G	A	2226885	2	1	79	1	0	0	0	0	0	0	0	1	4725	1132	40	1		1	DOT1L	19	2226885	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76	2226885	56902098	18316	28633											
SF3A2	8175	broad.mit.edu	37	chr19	2247848	2247848	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccctggggtgaagcggcCtccacccccgctgatgaacg	12	18	0	3	rs575076689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	ENST00000221494.5	+	9	1116	c.698C>A	c.(697-699)cCt>cAt	p.P233H	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	233	Pro-rich.				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)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	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)		GTGAAGCGGCCTCCACCCCCG	0.677																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(697-699)cCt>cAt		splicing factor 3a, subunit 2, 66kDa																																				SO:0001583	missense	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2247848C>A	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.698C>A	19.37:g.2247848C>A	ENSP00000221494:p.Pro233His						p.P233H	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1116	+		Hepatocellular(1079;0.137)	233			Pro-rich.		B2RBU1|D6W605|O75245	Missense_Mutation	SNP	ENST00000221494.5	37	c.698C>A	CCDS12084.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724207	0.68959	.	.	ENSG00000104897	ENST00000221494	T	0.49720	0.77	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	L	0.34521	1.04	0.58432	D	0.999996	D	0.89917	1.0	D	0.73380	0.98	T	0.61821	-0.6984	10	0.59425	D	0.04	-13.467	16.1438	0.81548	0.0:1.0:0.0:0.0	.	233	Q15428	SF3A2_HUMAN	H	233	ENSP00000221494:P233H	ENSP00000221494:P233H	P	+	2	0	SF3A2	2198848	0.996000	0.38824	0.997000	0.53966	0.769000	0.43574	4.243000	0.58721	2.145000	0.66743	0.462000	0.41574	CCT		0.677	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			37	338	1	0	1.30998e-17	1	1.44773e-17	37	338					A	2247848	C	A	2247848	3	1	79	1	0	0	0	0	1	0	0	0	14197	681	24	3	728	3	SF3A2	19	2247848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20963	2247848	56881135	18317	28634											
AMH	268	broad.mit.edu	37	chr19	2249555	2249555	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgcgggtggtgggggCtctaagcgcctatgagcagg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2249555C>T	ENST00000221496.4	+	1	246	c.224C>T	c.(223-225)gCt>gTt	p.A75V	MIR4321_ENST00000592276.1_RNA	NM_000479.3	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone	75					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)		GTGGTGGGGGCTCTAAGCGCC	0.701									Persistant Mullerian Duct Syndrome (type I and II)																													ENST00000221496.3																			0				lung(2)	2						c.(223-225)gCt>gTt		anti-Mullerian hormone							8	11	10					19																	2249555		2156	4280	6436	SO:0001583	missense	268	Persistant Mullerian Duct Syndrome (type I and II)	Familial Cancer Database	PMDS, Persistent Oviduct Syndrome	cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity	g.chr19:2249555C>T	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.224C>T	19.37:g.2249555C>T	ENSP00000221496:p.Ala75Val						p.A75V	NM_000479.3	NP_000470.2	P03971	MIS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	890	+		Hepatocellular(1079;0.137)	75					O75246|Q6GTN3	Missense_Mutation	SNP	ENST00000221496.4	37	c.224C>T	CCDS12085.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.307984	0.01342	.	.	ENSG00000104899	ENST00000221496	D	0.83419	-1.72	3.75	-1.67	0.08238	.	1.190810	0.06312	N	0.702866	T	0.66076	0.2753	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46830	-0.9163	10	0.34782	T	0.22	-1.1031	6.9978	0.24793	0.0:0.5399:0.2022:0.2578	.	75	P03971	MIS_HUMAN	V	75	ENSP00000221496:A75V	ENSP00000221496:A75V	A	+	2	0	AMH	2200555	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	-1.091000	0.03065	-1.598000	0.00824	GCT		0.701	AMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451276.3	NM_000479		13	51	0	0	0	1	0	13	51					T	2249555	C	T	2249555	3	4	79	1	0	0	0	0	1	0	0	0	572	797	28	2	226	2	AMH	19	2249555	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1707	2249555	56879428	18318	28635											
JSRP1	126306	broad.mit.edu	37	chr19	2255205	2255205	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgccacaagggtacCtgaagccctgtcctcctggg	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	ENST00000300961.6	-	2	173	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	JSRP1_ENST00000586471.2_Splice_Site_p.A37S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	37	Mediates interaction with CACNA1S. {ECO:0000250}.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGGGTACCTGAAGCCCTG	0.652																																						ENST00000300961.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6						c.e2+1		junctional sarcoplasmic reticulum protein 1							38	40	39					19																	2255205		2200	4298	6498	SO:0001630	splice_region_variant	126306					sarcoplasmic reticulum membrane		g.chr19:2255205C>A	AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.109+1G>T	19.37:g.2255205C>A						JSRP1_ENST00000586471.1_Splice_Site_p.A37_splice	p.A37_splice	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	173	-			37			Mediates interaction with CACNA1S (By similarity).			Splice_Site	SNP	ENST00000300961.6	37	c.109_splice	CCDS12086.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393024	0.42410	.	.	ENSG00000167476	ENST00000300961	T	0.18657	2.2	3.63	3.63	0.41609	.	1.872170	0.03542	N	0.224035	T	0.16300	0.0392	N	0.24115	0.695	0.26197	N	0.979504	B	0.30281	0.275	B	0.22601	0.04	T	0.11641	-1.0579	9	.	.	.	.	10.9866	0.47526	0.0:1.0:0.0:0.0	.	37	Q96MG2	JSPR1_HUMAN	S	37	ENSP00000300961:A37S	.	A	-	1	0	JSRP1	2206205	0.992000	0.36948	0.300000	0.25030	0.278000	0.26855	3.501000	0.53325	2.022000	0.59522	0.561000	0.74099	GCG		0.652	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451266.2	NM_144616	Missense_Mutation	25	128	1	0	9.86323e-18	1	1.09066e-17	25	128					A	2255205	C	A	2255205	5	1	79	1	0	0	0	0	0	0	1	0	7996	695	24	3	910	3	JSRP1	19	2255205	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5650	2255205	56873778	18319	28636											
C19orf35	374872	broad.mit.edu	37	chr19	2276371	2276371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctctccagggcgcccCgggcagtgtgccttcaggca	14	16	2	0	rs557687551		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2276371C>T	ENST00000342063.3	-	4	823	c.730G>A	c.(730-732)Ggg>Agg	p.G244R		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	244										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)		CAGGGCGCCCCGGGCAGTGTG	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		14555	0.0		0.0	False		,,,				2504	0.001					ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(730-732)Ggg>Agg		chromosome 19 open reading frame 35							8	9	9					19																	2276371		2045	4060	6105	SO:0001583	missense	374872							g.chr19:2276371C>T	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.730G>A	19.37:g.2276371C>T	ENSP00000345102:p.Gly244Arg						p.G244R	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	823	-			244						Missense_Mutation	SNP	ENST00000342063.3	37	c.730G>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533116	0.13188	.	.	ENSG00000188305	ENST00000342063	T	0.13901	2.55	2.96	2.96	0.34315	.	.	.	.	.	T	0.06600	0.0169	N	0.14661	0.345	0.09310	N	1	P	0.36599	0.56	B	0.25140	0.058	T	0.28459	-1.0043	9	0.22706	T	0.39	.	10.6612	0.45704	0.0:1.0:0.0:0.0	.	244	Q6ZS72	CS035_HUMAN	R	244	ENSP00000345102:G244R	ENSP00000345102:G244R	G	-	1	0	C19orf35	2227371	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-0.572000	0.05881	1.500000	0.48636	0.561000	0.74099	GGG		0.716	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		18	81	0	0	0	1	0	18	81					T	2276371	C	T	2276371	3	4	79	1	0	0	0	0	1	0	0	0	1927	652	23	1	695	1	C19orf35	19	2276371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21166	2276371	56852612	18320	28637											
C19orf35	374872	broad.mit.edu	37	chr19	2280862	2280862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttaccaaggttgctataCgtgggctgagtcgaccaggt	13	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2280862C>T	ENST00000342063.3	-	2	162	c.69G>A	c.(67-69)acG>acA	p.T23T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	23										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)		GGTTGCTATACGTGGGCTGAG	0.697																																						ENST00000342063.3																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(67-69)acG>acA		chromosome 19 open reading frame 35							25	26	25					19																	2280862		2199	4298	6497	SO:0001819	synonymous_variant	374872							g.chr19:2280862C>T	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.69G>A	19.37:g.2280862C>T							p.T23T	NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	162	-			23						Silent	SNP	ENST00000342063.3	37	c.69G>A	CCDS12087.1																																																																																				0.697	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		31	112	0	0	0	1	0	31	112					T	2280862	C	T	2280862	2	4	79	1	0	0	0	0	0	0	0	1	1927	523	19	1		1	C19orf35	19	2280862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4491	2280862	56848121	18321	28638											
LINGO3	645191	broad.mit.edu	37	chr19	2290688	2290688	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttgcgacgctgcacgAtccacagcaggcgacagtcg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2290688A>G	ENST00000585527.1	-	1	1335	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	363	LRRCT.					integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						ACGCTGCACGATCCACAGCAG	0.697																																						ENST00000585527.1																			0				lung(1)|urinary_tract(1)	2						c.(1087-1089)aTc>aCc		leucine rich repeat and Ig domain containing 3							24	26	25					19																	2290688		2068	4182	6250	SO:0001583	missense	645191					integral to membrane		g.chr19:2290688A>G	AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.1088T>C	19.37:g.2290688A>G	ENSP00000467753:p.Ile363Thr					LINGO3_ENST00000404279.1_Missense_Mutation_p.I363T	p.I363T			P0C6S8	LIGO3_HUMAN			1	1335	-			363			LRRCT.			Missense_Mutation	SNP	ENST00000585527.1	37	c.1088T>C	CCDS45905.1	.	.	.	.	.	.	.	.	.	.	a	15.84	2.950895	0.53186	.	.	ENSG00000220008	ENST00000404279	T	0.57107	0.42	4.3	4.3	0.51218	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.56645	0.1999	M	0.78801	2.425	0.58432	D	0.999999	B	0.20671	0.047	B	0.28385	0.089	T	0.61197	-0.7111	9	0.87932	D	0	.	12.5973	0.56476	1.0:0.0:0.0:0.0	.	363	P0C6S8	LIGO3_HUMAN	T	363	ENSP00000384979:I363T	ENSP00000384979:I363T	I	-	2	0	LINGO3	2241688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.933000	0.92911	1.576000	0.49790	0.379000	0.24179	ATC		0.697	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451291.2	NM_001101391		6	123	0	0	0	1	0	6	123					G	2290688	A	G	2290688	3	3	79	1	0	0	0	0	1	0	0	0	8849	333	12	4	694	4	LINGO3	19	2290688	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9826	2290688	56838295	18322	28639											
SPPL2B	56928	broad.mit.edu	37	chr19	2334702	2334702	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagtgggcccatcttccGcacgacctcagcaaggcagt	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2334702G>A	ENST00000452401.2	+	0	248							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|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)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.P56P(1)					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)		CCCATCTTCCGCACGACCTCA	0.677																																						ENST00000452401.2																			1	Substitution - coding silent(1)	p.P56P(1)	lung(1)										signal peptide peptidase like 2B							34	37	36					19																	2334702		1983	4139	6122			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2334702G>A		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"intramembrane protease 4"	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2334702G>A						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	248	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37																																																																																						0.677	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		25	90	0	0	0	1	0	25	90					A	2334702	G	A	2334702	1	1	79	0	1	0	0	0	0	0	0	0	15141	1074	38	1		1	SPPL2B	19	2334702	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44014	2334702	56794281	18323	28640											
TMPRSS9	360200	broad.mit.edu	37	chr19	2389901	2389901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggccaccagccttgtcGtcctcaccctgggagtcctt	11	15	1	0	rs368830380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2389901G>A	ENST00000332578.3	+	1	118	c.118G>A	c.(118-120)Gtc>Atc	p.V40I		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40					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)		CAGCCTTGTCGTCCTCACCCT	0.592																																						ENST00000332578.3																			0				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						c.(118-120)Gtc>Atc		transmembrane protease, serine 9		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	117	89	98		118	-8.8	0	19		98	0,8600		0,0,4300	no	missense	TMPRSS9	NM_182973.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	40/1060	2389901	2,13004	2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2389901G>A	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.118G>A	19.37:g.2389901G>A	ENSP00000330264:p.Val40Ile						p.V40I	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	118	+			40					Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.118G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	2.258	-0.369927	0.05069	4.54E-4	0.0	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.87571	-2.27	4.39	-8.77	0.00827	.	2.144020	0.02082	N	0.052415	T	0.67730	0.2924	N	0.12182	0.205	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.04013	0.001;0.001	T	0.64618	-0.6365	10	0.02654	T	1	.	5.5426	0.17045	0.1342:0.1864:0.5873:0.0922	.	40;40	Q7Z410;E7EMP4	TMPS9_HUMAN;.	I	40	ENSP00000330264:V40I	ENSP00000330264:V40I	V	+	1	0	TMPRSS9	2340901	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.757000	0.01811	-3.156000	0.00229	-1.459000	0.01027	GTC		0.592	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		52	315	0	0	0	1	0	52	315					A	2389901	G	A	2389901	3	1	79	1	0	0	0	0	1	0	0	0	16305	1145	40	1	120	1	TMPRSS9	19	2389901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55199	2389901	56739082	18324	28641											
TMPRSS9	360200	broad.mit.edu	37	chr19	2399065	2399065	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgcactttctgctgCgacccctccagacgctgagc	9	17	1	2	rs146863718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2399065C>T	ENST00000332578.3	+	3	286	c.286C>T	c.(286-288)Cga>Tga	p.R96*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	96					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)		CTTTCTGCTGCGACCCCTCCA	0.642																																						ENST00000332578.3																			0				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						c.(286-288)Cga>Tga		transmembrane protease, serine 9							40	34	36					19																	2399065		2203	4300	6503	SO:0001587	stop_gained	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2399065C>T	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.286C>T	19.37:g.2399065C>T	ENSP00000330264:p.Arg96*						p.R96*	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	286	+			96					Q6ZND6|Q7Z411	Nonsense_Mutation	SNP	ENST00000332578.3	37	c.286C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607283	0.87157	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	.	.	.	4.34	2.08	0.27032	.	1.477610	0.04838	N	0.439921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0588	0.25113	0.0:0.7286:0.1735:0.0979	.	.	.	.	X	130;96	.	ENSP00000330264:R96X	R	+	1	2	TMPRSS9	2350065	0.001000	0.12720	0.034000	0.17996	0.869000	0.49853	1.317000	0.33631	0.372000	0.24591	0.456000	0.33151	CGA		0.642	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		18	97	0	0	0	1	0	18	97					T	2399065	C	T	2399065	4	4	79	1	0	0	0	0	0	1	0	0	16305	760	27	1	296	1	TMPRSS9	19	2399065	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9164	2399065	56729918	18325	28642											
TMPRSS9	360200	broad.mit.edu	37	chr19	2405479	2405479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccttcgagagaacaaggagCacttctgtggggccgccatc	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2405479C>T	ENST00000332578.3	+	6	676	c.676C>T	c.(676-678)Cac>Tac	p.H226Y		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	226	Peptidase S1 1. {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)		GAACAAGGAGCACTTCTGTGG	0.617																																						ENST00000332578.3																			0				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						c.(676-678)Cac>Tac		transmembrane protease, serine 9							82	80	81					19																	2405479		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2405479C>T	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.676C>T	19.37:g.2405479C>T	ENSP00000330264:p.His226Tyr						p.H226Y	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	676	+			226			Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.676C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467424	0.84533	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.60548	0.18	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.50627	D	0.000112	T	0.70945	0.3282	L	0.49513	1.565	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74836	-0.3529	10	0.87932	D	0	.	15.9549	0.79880	0.0:1.0:0.0:0.0	.	226;260	Q7Z410;E7EMP4	TMPS9_HUMAN;.	Y	260;226	ENSP00000330264:H226Y	ENSP00000330264:H226Y	H	+	1	0	TMPRSS9	2356479	1.000000	0.71417	0.990000	0.47175	0.829000	0.46940	7.628000	0.83189	2.188000	0.69820	0.484000	0.47621	CAC		0.617	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		64	337	0	0	0	1	0	64	337					T	2405479	C	T	2405479	3	4	79	1	0	0	0	0	1	0	0	0	16305	710	25	2	698	2	TMPRSS9	19	2405479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6414	2405479	56723504	18326	28643											
LMNB2	84823	broad.mit.edu	37	chr19	2435154	2435154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgctcgtgccgccgccGcgtctcccgcacctcctgcg	12	22	1	0	rs148936043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2435154G>A	ENST00000582871.1	-	5	726	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	LMNB2_ENST00000325327.3_Missense_Mutation_p.R234W	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	214	Linker 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)		TGCCGCCGCCGCGTCTCCCGC	0.682																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(700-702)Cgg>Tgg		lamin B2		G	TRP/ARG	0,4392		0,0,2196	22	25	24		640	2.5	0.3	19	dbSNP_134	24	2,8574		0,2,4286	yes	missense	LMNB2	NM_032737.2	101	0,2,6482	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	214/601	2435154	2,12966	2196	4288	6484	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2435154G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.640C>T	19.37:g.2435154G>A	ENSP00000462730:p.Arg214Trp					LMNB2_ENST00000582871.1_Missense_Mutation_p.R214W	p.R234W			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	762	-		Hepatocellular(1079;0.137)	214			Linker 2.|Rod.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.700C>T		.	.	.	.	.	.	.	.	.	.	G	18.95	3.731514	0.69189	0.0	2.33E-4	ENSG00000176619	ENST00000325327	.	.	.	4.83	2.52	0.30459	Filament (1);	0.000000	0.85682	D	0.000000	T	0.80737	0.4680	M	0.91818	3.245	0.52099	D	0.999947	D	0.89917	1.0	D	0.81914	0.995	D	0.83573	0.0113	9	0.87932	D	0	.	10.8341	0.46677	0.0:0.0:0.4591:0.5409	.	214	Q03252	LMNB2_HUMAN	W	214	.	ENSP00000327054:R214W	R	-	1	2	LMNB2	2386154	0.998000	0.40836	0.348000	0.25681	0.996000	0.88848	2.629000	0.46485	1.011000	0.39340	0.561000	0.74099	CGG		0.682	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		48	291	0	0	0	1	0	48	291					A	2435154	G	A	2435154	3	1	79	1	0	0	0	0	1	0	0	0	8883	1086	38	1	1194	1	LMNB2	19	2435154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29675	2435154	56693829	18327	28644											
GNG7	2788	broad.mit.edu	37	chr19	2515062	2515062	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtccttaaaggggttctcCgaggcagggactccgaccag	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2515062C>T	ENST00000382159.3	-	5	362	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7	55					behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTTCTCCGAGGCAGGGA	0.498																																						ENST00000382159.3																			0				central_nervous_system(2)|large_intestine(1)	3						c.(163-165)tcG>tcA		guanine nucleotide binding protein (G protein), gamma 7							77	83	81					19																	2515062		2203	4300	6503	SO:0001819	synonymous_variant	2788				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr19:2515062C>T	AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.165G>A	19.37:g.2515062C>T							p.S55S	NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	362	-		Hepatocellular(1079;0.137)	55					B2R496	Silent	SNP	ENST00000382159.3	37	c.165G>A	CCDS12091.1																																																																																				0.498	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451345.1	NM_052847		100	456	0	0	0	1	0	100	456					T	2515062	C	T	2515062	2	4	79	1	0	0	0	0	0	0	0	1	6560	639	23	1		1	GNG7	19	2515062	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79908	2515062	56613921	18328	28645											
DIRAS1	148252	broad.mit.edu	37	chr19	2717235	2717235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcatttgcccttgacGcggtctgtcctcttctgctt	11	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717235G>A	ENST00000323469.4	-	2	753	c.570C>T	c.(568-570)cgC>cgT	p.R190R	DIRAS1_ENST00000585334.1_Silent_p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	190					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCTTGACGCGGTCTGTCC	0.667																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(568-570)cgC>cgT		DIRAS family, GTP-binding RAS-like 1							103	98	100					19																	2717235		2203	4298	6501	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717235G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.570C>T	19.37:g.2717235G>A						DIRAS1_ENST00000585334.1_Silent_p.R190R	p.R190R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	753	-			190						Silent	SNP	ENST00000323469.4	37	c.570C>T	CCDS12092.1																																																																																				0.667	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			76	881	0	0	0	1	0	76	881					A	2717235	G	A	2717235	2	1	79	1	0	0	0	0	0	0	0	1	4546	1074	38	1		1	DIRAS1	19	2717235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202173	2717235	56411748	18329	28646											
DIRAS1	148252	broad.mit.edu	37	chr19	2717474	2717474	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcacggggatgtcctccaCgctgcccttgatctgcacga	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717474C>T	ENST00000323469.4	-	2	514	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	111					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCCTCCACGCTGCCCTTG	0.642																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(331-333)Gtg>Atg		DIRAS family, GTP-binding RAS-like 1							59	49	53					19																	2717474		2202	4300	6502	SO:0001583	missense	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717474C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.331G>A	19.37:g.2717474C>T	ENSP00000325836:p.Val111Met					DIRAS1_ENST00000585334.1_Missense_Mutation_p.V111M	p.V111M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	514	-			111						Missense_Mutation	SNP	ENST00000323469.4	37	c.331G>A	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.212378	0.39102	.	.	ENSG00000176490	ENST00000323469	T	0.70164	-0.46	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.064498	0.64402	D	0.000009	T	0.56337	0.1978	L	0.53671	1.685	0.58432	D	0.99999	B	0.28208	0.203	B	0.24541	0.054	T	0.54774	-0.8243	10	0.31617	T	0.26	.	8.0326	0.30474	0.0:0.8865:0.0:0.1135	.	111	O95057	DIRA1_HUMAN	M	111	ENSP00000325836:V111M	ENSP00000325836:V111M	V	-	1	0	DIRAS1	2668474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.573000	0.46007	1.898000	0.54952	0.549000	0.68633	GTG		0.642	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			35	223	0	0	0	1	0	35	223					T	2717474	C	T	2717474	3	4	79	1	0	0	0	0	1	0	0	0	4546	536	19	1	269	1	DIRAS1	19	2717474	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	2717474	56411509	18330	28647											
DIRAS1	148252	broad.mit.edu	37	chr19	2717568	2717568	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccaggatgaaggcgtgGcccttggagatggacaggcg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717568G>A	ENST00000323469.4	-	2	420	c.237C>T	c.(235-237)ggC>ggT	p.G79G	DIRAS1_ENST00000585334.1_Silent_p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	79					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G79G(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGGCGTGGCCCTTGGAGA	0.622																																						ENST00000323469.4																			1	Substitution - coding silent(1)	p.G79G(1)	ovary(1)	kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(235-237)ggC>ggT		DIRAS family, GTP-binding RAS-like 1							70	58	62					19																	2717568		2201	4299	6500	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717568G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.237C>T	19.37:g.2717568G>A						DIRAS1_ENST00000585334.1_Silent_p.G79G	p.G79G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	420	-			79						Silent	SNP	ENST00000323469.4	37	c.237C>T	CCDS12092.1																																																																																				0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			50	189	0	0	0	1	0	50	189					A	2717568	G	A	2717568	2	1	79	1	0	0	0	0	0	0	0	1	4546	1190	42	2		2	DIRAS1	19	2717568	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94	2717568	56411415	18331	28648											
DIRAS1	148252	broad.mit.edu	37	chr19	2717589	2717589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttggagatggacaggcgCtgcatggccgggaactggtg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717589C>T	ENST00000323469.4	-	2	399	c.216G>A	c.(214-216)caG>caA	p.Q72Q	DIRAS1_ENST00000585334.1_Silent_p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	72					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACAGGCGCTGCATGGCCG	0.627																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(214-216)caG>caA		DIRAS family, GTP-binding RAS-like 1							74	61	65					19																	2717589		2202	4297	6499	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717589C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.216G>A	19.37:g.2717589C>T						DIRAS1_ENST00000585334.1_Silent_p.Q72Q	p.Q72Q	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	399	-			72						Silent	SNP	ENST00000323469.4	37	c.216G>A	CCDS12092.1																																																																																				0.627	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			59	188	0	0	0	1	0	59	188					T	2717589	C	T	2717589	2	4	79	1	0	0	0	0	0	0	0	1	4546	796	28	2		2	DIRAS1	19	2717589	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	2717589	56411394	18332	28649											
DIRAS1	148252	broad.mit.edu	37	chr19	2717685	2717685	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgccggtaggtgtcctcGatggtggggatgtaggtgtc	17	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717685G>A	ENST00000323469.4	-	2	303	c.120C>T	c.(118-120)atC>atT	p.I40I	DIRAS1_ENST00000585334.1_Silent_p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	40					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGTCCTCGATGGTGGGGA	0.657																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(118-120)atC>atT		DIRAS family, GTP-binding RAS-like 1							97	76	83					19																	2717685		2203	4299	6502	SO:0001819	synonymous_variant	0				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717685G>A	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.120C>T	19.37:g.2717685G>A						DIRAS1_ENST00000585334.1_Silent_p.I40I	p.I40I	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	303	-			40						Silent	SNP	ENST00000323469.4	37	c.120C>T	CCDS12092.1																																																																																				0.657	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			76	327	0	0	0	1	0	76	327					A	2717685	G	A	2717685	2	1	79	1	0	0	0	0	0	0	0	1	4546	1048	37	1		1	DIRAS1	19	2717685	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	2717685	56411298	18333	28650											
SGTA	6449	broad.mit.edu	37	chr19	2769007	2769007	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggacgagaggcccccgtgCcggagctggtcatgcaggaa	16	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2769007C>T	ENST00000221566.2	-	2	221	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	20					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCCGTGCCGGAGCTGGT	0.627																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(58-60)cgG>cgA		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							75	81	79					19																	2769007		2203	4300	6503	SO:0001819	synonymous_variant	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2769007C>T	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.60G>A	19.37:g.2769007C>T							p.R20R	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	221	-		Hepatocellular(1079;0.137)	20					D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	ENST00000221566.2	37	c.60G>A	CCDS12094.1																																																																																				0.627	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		79	366	0	0	0	1	0	79	366					T	2769007	C	T	2769007	2	4	79	1	0	0	0	0	0	0	0	1	14275	726	26	2		2	SGTA	19	2769007	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51322	2769007	56359976	18334	28651											
THOP1	7064	broad.mit.edu	37	chr19	2790603	2790603	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgagagcacgctcaaggcGctggccgatgtggaggtcac	15	11	2	1	rs368257927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2790603G>A	ENST00000307741.6	+	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	67					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCAAGGCGCTGGCCGATG	0.652																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(199-201)gcG>gcA		thimet oligopeptidase 1		G		1,4405	2.1+/-5.4	0,1,2202	70	57	61		201	-7.6	1	19		61	0,8600		0,0,4300	no	coding-synonymous	THOP1	NM_003249.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		67/690	2790603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2790603G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.201G>A	19.37:g.2790603G>A							p.A67A	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	404	+			67					B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	c.201G>A	CCDS12095.1																																																																																				0.652	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			26	234	0	0	0	1	0	26	234					A	2790603	G	A	2790603	2	1	79	1	0	0	0	0	0	0	0	1	15923	1074	38	1		1	THOP1	19	2790603	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21596	2790603	56338380	18335	28652											
THOP1	7064	broad.mit.edu	37	chr19	2794884	2794884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgagcatgagggaggacGtgtaccagaggatcgtgtgg	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2794884G>A	ENST00000307741.6	+	3	555	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	118					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGGACGTGTACCAGAG	0.617																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(352-354)Gtg>Atg		thimet oligopeptidase 1							112	89	96					19																	2794884		2203	4300	6503	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2794884G>A		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.352G>A	19.37:g.2794884G>A	ENSP00000304467:p.Val118Met						p.V118M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	555	+			118					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.352G>A	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504213	0.85176	.	.	ENSG00000172009	ENST00000307741	T	0.08634	3.07	5.12	5.12	0.69794	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.32771	-0.9894	10	0.87932	D	0	-61.0448	17.1204	0.86700	0.0:0.0:1.0:0.0	.	118	P52888	THOP1_HUMAN	M	118	ENSP00000304467:V118M	ENSP00000304467:V118M	V	+	1	0	THOP1	2745884	1.000000	0.71417	0.991000	0.47740	0.777000	0.43975	9.003000	0.93577	2.382000	0.81193	0.462000	0.41574	GTG		0.617	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			96	375	0	0	0	1	0	96	375					A	2794884	G	A	2794884	3	1	79	1	0	0	0	0	1	0	0	0	15923	1145	40	1	362	1	THOP1	19	2794884	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4281	2794884	56334099	18336	28653											
ZNF554	115196	broad.mit.edu	37	chr19	2834613	2834613	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgagcgaactcacacgggCgagaacccctatgaatgtaa	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2834613C>T	ENST00000317243.5	+	5	1578	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACACGGGCGAGAACCCCT	0.547																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1378-1380)ggC>ggT		zinc finger protein 554							60	71	67					19																	2834613		2202	4299	6501	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834613C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1380C>T	19.37:g.2834613C>T							p.G460G	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1578	+		Hepatocellular(1079;0.137)	460					Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.1380C>T	CCDS42462.1																																																																																				0.547	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		53	219	0	0	0	1	0	53	219					T	2834613	C	T	2834613	2	4	79	1	0	0	0	0	0	0	0	1	18038	755	27	1		1	ZNF554	19	2834613	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39729	2834613	56294370	18337	28654											
ZNF555	148254	broad.mit.edu	37	chr19	2853592	2853592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcagagaaactctataaatGcaagcagtgtgggaaagctt	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2853592G>A	ENST00000334241.4	+	4	1667	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTATAAATGCAAGCAGTGT	0.413																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(1528-1530)tGc>tAc		zinc finger protein 555							121	111	114					19																	2853592		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853592G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1529G>A	19.37:g.2853592G>A	ENSP00000334853:p.Cys510Tyr					ZNF555_ENST00000591539.1_Missense_Mutation_p.C509Y|AC006130.3_ENST00000589365.1_RNA	p.C510Y	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1667	+			510					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.1529G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485938	0.63962	.	.	ENSG00000186300	ENST00000334241	D	0.85088	-1.94	3.22	3.22	0.36961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93051	0.7788	M	0.91768	3.24	0.38304	D	0.943076	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94845	0.8008	9	0.87932	D	0	.	12.2446	0.54563	0.0:0.0:1.0:0.0	.	510;509	Q8NEP9;A8KA89	ZN555_HUMAN;.	Y	510	ENSP00000334853:C510Y	ENSP00000334853:C510Y	C	+	2	0	ZNF555	2804592	1.000000	0.71417	0.018000	0.16275	0.957000	0.61999	8.594000	0.90836	1.799000	0.52666	0.561000	0.74099	TGC		0.413	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		73	423	0	0	0	1	0	73	423					A	2853592	G	A	2853592	3	1	79	1	0	0	0	0	1	0	0	0	18039	1319	46	2	1543	2	ZNF555	19	2853592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18979	2853592	56275391	18338	28655											
ZNF556	80032	broad.mit.edu	37	chr19	2876127	2876127	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	taaagccagtgggtctatttCtcagcaggatacttctggag	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2876127C>T	ENST00000307635.2	+	3	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_ENST00000586426.1_Missense_Mutation_p.S56F	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	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)			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)		GGGTCTATTTCTCAGCAGGAT	0.368																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(166-168)tCt>tTt		zinc finger protein 556							136	149	145					19																	2876127		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2876127C>T	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.167C>T	19.37:g.2876127C>T	ENSP00000302603:p.Ser56Phe					ZNF556_ENST00000307635.2_Missense_Mutation_p.S56F	p.S56F			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	254	+			56			KRAB.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.167C>T	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459786	0.43736	.	.	ENSG00000172000	ENST00000307635	T	0.06218	3.33	2.44	2.44	0.29823	Krueppel-associated box (3);	.	.	.	.	T	0.04952	0.0133	L	0.33137	0.985	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.23976	-1.0173	9	0.09843	T	0.71	.	10.636	0.45565	0.0:1.0:0.0:0.0	.	56	Q9HAH1	ZN556_HUMAN	F	56	ENSP00000302603:S56F	ENSP00000302603:S56F	S	+	2	0	ZNF556	2827127	0.000000	0.05858	0.017000	0.16124	0.270000	0.26580	0.426000	0.21363	1.391000	0.46566	0.393000	0.25936	TCT		0.368	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		202	932	0	0	0	1	0	202	932					T	2876127	C	T	2876127	3	4	79	1	0	0	0	0	1	0	0	0	18040	913	32	2	177	2	ZNF556	19	2876127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22535	2876127	56252856	18339	28656											
ZNF77	58492	broad.mit.edu	37	chr19	2934085	2934085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatagggtttctctccaCtgtgcgttctcccatgttct	7	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2934085C>T	ENST00000314531.4	-	4	1132	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	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)			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)		TTTCTCTCCACTGTGCGTTCT	0.512																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(1039-1041)aGt>aAt		zinc finger protein 77							88	78	81					19																	2934085		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934085C>T	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.1040G>A	19.37:g.2934085C>T	ENSP00000319053:p.Ser347Asn						p.S347N	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1132	-			347					Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.1040G>A	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220668	0.39201	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.19394	2.15	3.28	-0.668	0.11392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13713	0.0332	N	0.21097	0.63	0.22933	N	0.998543	B	0.32543	0.375	B	0.35770	0.21	T	0.30327	-0.9982	9	0.66056	D	0.02	.	6.3263	0.21244	0.0:0.3325:0.5374:0.1302	.	347	Q15935	ZNF77_HUMAN	N	141;347	ENSP00000319053:S347N	ENSP00000319053:S347N	S	-	2	0	ZNF77	2885085	0.992000	0.36948	0.010000	0.14722	0.062000	0.15995	2.149000	0.42244	0.124000	0.18369	0.491000	0.48974	AGT		0.512	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		72	287	0	0	0	1	0	72	287					T	2934085	C	T	2934085	3	4	79	1	0	0	0	0	1	0	0	0	18195	565	20	2	601	2	ZNF77	19	2934085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57958	2934085	56194898	18340	28657											
TLE6	79816	broad.mit.edu	37	chr19	2987962	2987962	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggaacacaagttgggGtgtggtccaggtgagaccca	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2987962G>A	ENST00000246112.4	+	10	893	c.692G>A	c.(691-693)gGt>gAt	p.G231D	TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	231					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)		ACAAGTTGGGGTGTGGTCCAG	0.667																																						ENST00000246112.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(691-693)gGt>gAt		transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)							33	32	32					19																	2987962		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2987962G>A	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.692G>A	19.37:g.2987962G>A	ENSP00000246112:p.Gly231Asp					TLE6_ENST00000452088.1_Missense_Mutation_p.G108D|TLE6_ENST00000478073.2_3'UTR	p.G231D	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	893	+			108					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.692G>A	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208681	0.22205	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.19105	2.17;2.21	2.64	-5.2	0.02823	.	.	.	.	.	T	0.09992	0.0245	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.003;0.002;0.005	T	0.32693	-0.9897	9	0.34782	T	0.22	1.4638	0.8575	0.01186	0.455:0.1661:0.2125:0.1665	.	231;108;108	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	D	231;231;108;108	ENSP00000246112:G231D;ENSP00000406893:G108D	ENSP00000246112:G231D	G	+	2	0	TLE6	2938962	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.268000	0.08607	-1.113000	0.02981	0.449000	0.29647	GGT		0.667	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		12	112	0	0	0	1	0	12	112					A	2987962	G	A	2987962	3	1	79	1	0	0	0	0	1	0	0	0	15994	1261	44	2	726	2	TLE6	19	2987962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53877	2987962	56141021	18341	28658											
TLE6	79816	broad.mit.edu	37	chr19	2993462	2993462	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcccacagcccccaggaggaCtgggtgctgctgggcatggc	15	14	0	0	rs201023348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2993462C>A	ENST00000246112.4	+	15	1620	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	473					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)		CCCAGGAGGACTGGGTGCTGC	0.632																																						ENST00000246112.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(1417-1419)gaC>gaA		transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)							42	41	41					19																	2993462		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2993462C>A	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.1419C>A	19.37:g.2993462C>A	ENSP00000246112:p.Asp473Glu					TLE6_ENST00000452088.1_Missense_Mutation_p.D350E	p.D473E	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1620	+			350					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.1419C>A	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487138	0.26686	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.11385	2.78;2.78	3.38	3.38	0.38709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.12689	0.0308	L	0.43923	1.385	0.35456	D	0.796125	D;P;P;D	0.54772	0.968;0.859;0.937;0.968	P;P;B;P	0.52758	0.708;0.619;0.414;0.569	T	0.02721	-1.1119	9	0.02654	T	1	-46.1116	10.5257	0.44948	0.0:1.0:0.0:0.0	.	473;331;350;350	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	E	473;473;350;350	ENSP00000246112:D473E;ENSP00000406893:D350E	ENSP00000246112:D473E	D	+	3	2	TLE6	2944462	0.998000	0.40836	0.859000	0.33776	0.284000	0.27059	0.605000	0.24179	2.202000	0.70862	0.561000	0.74099	GAC		0.632	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		31	185	1	0	2.61193e-14	1	2.83483e-14	31	185					A	2993462	C	A	2993462	3	1	79	1	0	0	0	0	1	0	0	0	15994	564	20	3	1473	3	TLE6	19	2993462	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5500	2993462	56135521	18342	28659											
TLE2	7089	broad.mit.edu	37	chr19	3006594	3006594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgccgcgggatgcccgCgcctaccagtgcatccgagg	16	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3006594C>T	ENST00000262953.6	-	15	1586	c.1324G>A	c.(1324-1326)Gcg>Acg	p.A442T	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	442					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid 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)		GGGATGCCCGCGCCTACCAGT	0.682																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1324-1326)Gcg>Acg		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							13	18	17					19																	3006594		2075	4203	6278	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3006594C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1324G>A	19.37:g.3006594C>T	ENSP00000262953:p.Ala442Thr					TLE2_ENST00000455444.2_Missense_Mutation_p.A320T|TLE2_ENST00000443826.3_Missense_Mutation_p.A320T|TLE2_ENST00000447365.2_Missense_Mutation_p.A109T|TLE2_ENST00000591529.1_Missense_Mutation_p.A456T|TLE2_ENST00000590536.1_Missense_Mutation_p.A443T|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Missense_Mutation_p.A456T	p.A442T	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1586	-			442					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.1324G>A	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729813	0.48833	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	3.87	-0.643	0.11482	WD40 repeat-like-containing domain (1);	0.333784	0.33496	N	0.004855	T	0.03827	0.0108	N	0.15975	0.35	0.26651	N	0.972095	B;B;B;B;B;B	0.29716	0.255;0.001;0.003;0.003;0.001;0.001	B;B;B;B;B;B	0.15484	0.013;0.0;0.002;0.003;0.0;0.0	T	0.30238	-0.9985	10	0.52906	T	0.07	-20.3281	1.0155	0.01506	0.1583:0.2763:0.1551:0.4103	.	350;320;109;456;320;442	B4DZU9;E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;.;TLE2_HUMAN	T	442;320;436;109;320;456;350	ENSP00000262953:A442T;ENSP00000413107:A320T;ENSP00000406523:A109T;ENSP00000392427:A320T;ENSP00000392869:A456T	ENSP00000262953:A442T	A	-	1	0	TLE2	2957594	0.965000	0.33210	0.620000	0.29132	0.832000	0.47134	0.456000	0.21859	0.086000	0.17137	0.456000	0.33151	GCG		0.682	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		16	69	0	0	0	1	0	16	69					T	3006594	C	T	3006594	3	4	79	1	0	0	0	0	1	0	0	0	15991	768	27	1	931	1	TLE2	19	3006594	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13132	3006594	56122389	18343	28660											
TLE2	7089	broad.mit.edu	37	chr19	3008916	3008916	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagacggatgaccctcGgagatggggatgagactcaa	16	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3008916G>A	ENST00000262953.6	-	14	1463	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	401					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid 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)		GATGACCCTCGGAGATGGGGA	0.652																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1201-1203)Cga>Tga		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							47	56	53					19																	3008916		2020	4173	6193	SO:0001587	stop_gained	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3008916G>A	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1201C>T	19.37:g.3008916G>A	ENSP00000262953:p.Arg401*					TLE2_ENST00000455444.2_Nonsense_Mutation_p.R279*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.R279*|TLE2_ENST00000447365.2_Nonsense_Mutation_p.R68*|TLE2_ENST00000591529.1_Nonsense_Mutation_p.R415*|TLE2_ENST00000590536.1_Nonsense_Mutation_p.R402*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Nonsense_Mutation_p.R415*	p.R401*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1463	-			401					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Nonsense_Mutation	SNP	ENST00000262953.6	37	c.1201C>T	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	g	45	11.444582	0.99562	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948;ENST00000439015	.	.	.	3.99	3.99	0.46301	.	0.116373	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8716	9.2923	0.37793	0.0:0.0:0.7855:0.2145	.	.	.	.	X	401;279;395;68;279;415;309	.	ENSP00000262953:R401X	R	-	1	2	TLE2	2959916	1.000000	0.71417	0.946000	0.38457	0.532000	0.34746	0.437000	0.21543	2.512000	0.84698	0.549000	0.68633	CGA		0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		5	31	0	0	0	1	0	5	31					A	3008916	G	A	3008916	4	1	79	1	0	0	0	0	0	1	0	0	15991	1124	39	1	1058	1	TLE2	19	3008916	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2322	3008916	56120067	18344	28661											
TLE2	7089	broad.mit.edu	37	chr19	3011123	3011123	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggcggggaggagtcacaGgatttggaggcaggagtgct	21	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3011123G>T	ENST00000262953.6	-	12	1171	c.909C>A	c.(907-909)tcC>tcA	p.S303S	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000447365.2_Missense_Mutation_p.P12H|TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000587217.1_5'Flank|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000426948.2_Silent_p.S317S|TLE2_ENST00000590536.1_Silent_p.S304S	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	303	Pro/Ser-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid 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)		AGGAGTCACAGGATTTGGAGG	0.642																																						ENST00000447365.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(34-36)cCt>cAt		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							21	28	26					19																	3011123		2082	4214	6296	SO:0001819	synonymous_variant	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3011123G>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.909C>A	19.37:g.3011123G>T						TLE2_ENST00000455444.2_Silent_p.S181S|TLE2_ENST00000443826.3_Silent_p.S181S|TLE2_ENST00000262953.6_Silent_p.S303S|TLE2_ENST00000591529.1_Silent_p.S317S|TLE2_ENST00000590536.1_Silent_p.S304S|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000426948.2_Silent_p.S317S	p.P12H			Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1125	-			131			Gln-rich.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.35C>A	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527215	0.27299	.	.	ENSG00000065717	ENST00000447365	T	0.59906	0.23	4.58	3.51	0.40186	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45963	-0.9225	8	0.59425	D	0.04	2.597	9.9184	0.41448	0.0:0.0:0.6161:0.3839	.	12	B4DE62	.	H	12	ENSP00000406523:P12H	ENSP00000406523:P12H	P	-	2	0	TLE2	2962123	0.267000	0.24122	0.998000	0.56505	0.491000	0.33493	0.216000	0.17585	0.990000	0.38787	0.561000	0.74099	CCT		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		24	106	1	0	5.35047e-06	1	5.50008e-06	24	106					T	3011123	G	T	3011123	2	4	79	1	0	0	0	0	0	0	0	1	15991	987	35	3		3	TLE2	19	3011123	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2207	3011123	56117860	18345	28662											
GNA11	2767	broad.mit.edu	37	chr19	3119349	3119349	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggactacttccccgAgttcgatggtgcgccgggct	14	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3119349A>C	ENST00000078429.4	+	6	1123	c.881A>C	c.(880-882)gAg>gCg	p.E294A	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	294					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	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 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TACTTCCCCGAGTTCGATGGT	0.637			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(880-882)gAg>gCg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							70	60	64					19																	3119349		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3119349A>C	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.881A>C	19.37:g.3119349A>C	ENSP00000078429:p.Glu294Ala					GNA11_ENST00000586180.1_3'UTR	p.E294A	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	6	1123	+		Hepatocellular(1079;0.137)	294					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.881A>C	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	14.26	2.483197	0.44147	.	.	ENSG00000088256	ENST00000078429	D	0.89617	-2.54	4.12	4.12	0.48240	.	0.344132	0.26915	N	0.021849	D	0.88919	0.6568	M	0.73430	2.235	0.58432	D	0.99999	B	0.13145	0.007	B	0.29077	0.098	D	0.87515	0.2442	10	0.87932	D	0	.	11.9657	0.53033	1.0:0.0:0.0:0.0	.	294	P29992	GNA11_HUMAN	A	294	ENSP00000078429:E294A	ENSP00000078429:E294A	E	+	2	0	GNA11	3070349	1.000000	0.71417	0.999000	0.59377	0.747000	0.42532	4.525000	0.60559	1.511000	0.48818	0.391000	0.25812	GAG		0.637	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		77	327	0	0	0	1	0	77	327					C	3119349	A	C	3119349	3	2	79	1	0	0	0	0	1	0	0	0	6528	304	11	4	903	4	GNA11	19	3119349	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	108226	3119349	56009634	18346	28663											
GNA11	2767	broad.mit.edu	37	chr19	3121121	3121121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaacatccgcttcgtgttcGcggccgtgaaggacaccatc	11	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3121121G>A	ENST00000078429.4	+	7	1266	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	342					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	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 2A serotonin receptor binding (GO:0031826)			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCGTGTTCGCGGCCGTGAA	0.597			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"			E			uveal melanoma		0				endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(1024-1026)Gcg>Acg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							88	58	68					19																	3121121		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3121121G>A	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"hypocalciuric hypercalcemia 2"	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.1024G>A	19.37:g.3121121G>A	ENSP00000078429:p.Ala342Thr					AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.A342T	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	7	1266	+		Hepatocellular(1079;0.137)	342					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.1024G>A	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519968	0.44866	.	.	ENSG00000088256	ENST00000078429	D	0.89485	-2.52	3.45	3.45	0.39498	.	0.000000	0.53938	D	0.000051	D	0.87241	0.6128	M	0.65498	2.005	0.46564	D	0.999102	B	0.14805	0.011	B	0.17433	0.018	D	0.85982	0.1483	10	0.52906	T	0.07	.	13.6444	0.62272	0.0:0.0:1.0:0.0	.	342	P29992	GNA11_HUMAN	T	342	ENSP00000078429:A342T	ENSP00000078429:A342T	A	+	1	0	GNA11	3072121	1.000000	0.71417	0.951000	0.38953	0.972000	0.66771	4.927000	0.63440	1.773000	0.52216	0.561000	0.74099	GCG		0.597	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		42	187	0	0	0	1	0	42	187					A	3121121	G	A	3121121	3	1	79	1	0	0	0	0	1	0	0	0	6528	1087	38	1	1050	1	GNA11	19	3121121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1772	3121121	56007862	18347	28664											
GNA15	2769	broad.mit.edu	37	chr19	3151773	3151773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agctcaggacgtgctccgcaGccgcatgcccaccactggca	11	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3151773G>T	ENST00000262958.3	+	4	812	c.554G>T	c.(553-555)aGc>aTc	p.S185I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	185					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)		GTGCTCCGCAGCCGCATGCCC	0.642																																						ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(553-555)aGc>aTc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							118	101	107					19																	3151773		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151773G>T		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.554G>T	19.37:g.3151773G>T	ENSP00000262958:p.Ser185Ile					AC005264.2_ENST00000587587.1_RNA	p.S185I	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		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)	4	812	+		Hepatocellular(1079;0.137)	185					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.554G>T	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060650	0.36373	.	.	ENSG00000060558	ENST00000262958	D	0.88975	-2.45	4.59	3.53	0.40419	G protein alpha subunit, helical insertion (1);	0.130161	0.51477	U	0.000099	T	0.80999	0.4732	N	0.21508	0.67	0.34022	D	0.652732	B	0.11235	0.004	B	0.18263	0.021	T	0.80504	-0.1353	10	0.87932	D	0	.	9.8799	0.41227	0.0:0.0:0.6289:0.3711	.	185	P30679	GNA15_HUMAN	I	185	ENSP00000262958:S185I	ENSP00000262958:S185I	S	+	2	0	GNA15	3102773	0.025000	0.19082	0.962000	0.40283	0.800000	0.45204	1.389000	0.34453	0.895000	0.36342	0.546000	0.68486	AGC		0.642	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		136	569	1	0	1.18489e-69	1	1.50393e-69	136	569					T	3151773	G	T	3151773	3	4	79	1	0	0	0	0	1	0	0	0	6532	971	34	3	568	3	GNA15	19	3151773	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30652	3151773	55977210	18348	28665											
GNA15	2769	broad.mit.edu	37	chr19	3162989	3162989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggactcggtgctcgcccGctacctggacgagatcaacc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3162989G>A	ENST00000262958.3	+	7	1355	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	366					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)		GTGCTCGCCCGCTACCTGGAC	0.667											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1096-1098)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							80	68	72					19																	3162989		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3162989G>A		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.1097G>A	19.37:g.3162989G>A	ENSP00000262958:p.Arg366His		OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609		p.R366H	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		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)	7	1355	+		Hepatocellular(1079;0.137)	366					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.1097G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.119165	0.77323	.	.	ENSG00000060558	ENST00000262958	D	0.82619	-1.63	3.9	3.9	0.45041	.	0.111669	0.37669	N	0.001982	T	0.69287	0.3094	N	0.21373	0.66	0.37205	D	0.904568	B	0.19073	0.033	B	0.18561	0.022	T	0.68070	-0.5506	10	0.39692	T	0.17	.	7.2896	0.26358	0.1199:0.0:0.8801:0.0	.	366	P30679	GNA15_HUMAN	H	366	ENSP00000262958:R366H	ENSP00000262958:R366H	R	+	2	0	GNA15	3113989	0.799000	0.28903	1.000000	0.80357	0.972000	0.66771	2.783000	0.47766	2.001000	0.58596	0.491000	0.48974	CGC		0.667	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		6	242	0	0	0	1	0	6	242					A	3162989	G	A	3162989	3	1	79	1	0	0	0	0	1	0	0	0	6532	1087	38	1	1123	1	GNA15	19	3162989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11216	3162989	55965994	18349	28666											
S1PR4	8698	broad.mit.edu	37	chr19	3178948	3178948	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggggccctgcgggggctgtCggtggccgccagctgcctgg	21	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3178948C>T	ENST00000246115.3	+	1	213	c.158C>T	c.(157-159)tCg>tTg	p.S53L	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	53					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGGGCTGTCGGTGGCCGCC	0.711																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(157-159)tCg>tTg		sphingosine-1-phosphate receptor 4							3	3	3					19																	3178948		1815	3689	5504	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3178948C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.158C>T	19.37:g.3178948C>T	ENSP00000246115:p.Ser53Leu					S1PR4_ENST00000591346.1_Intron	p.S53L	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	213	+			53					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.158C>T	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252049	0.39797	.	.	ENSG00000125910	ENST00000246115	T	0.32988	1.43	3.73	2.68	0.31781	.	0.294789	0.32068	N	0.006622	T	0.15089	0.0364	N	0.14661	0.345	0.29794	N	0.832973	B	0.15141	0.012	B	0.04013	0.001	T	0.08371	-1.0725	10	0.46703	T	0.11	.	4.6557	0.12617	0.0:0.2117:0.0:0.7883	.	53	O95977	S1PR4_HUMAN	L	53	ENSP00000246115:S53L	ENSP00000246115:S53L	S	+	2	0	S1PR4	3129948	0.991000	0.36638	0.039000	0.18376	0.953000	0.61014	1.912000	0.39946	0.505000	0.28104	0.462000	0.41574	TCG		0.711	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		8	31	0	0	0	1	0	8	31					T	3178948	C	T	3178948	3	4	79	1	0	0	0	0	1	0	0	0	13846	893	31	1	160	1	S1PR4	19	3178948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15959	3178948	55950035	18350	28667											
S1PR4	8698	broad.mit.edu	37	chr19	3179636	3179636	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggctccaacctctgggcCcaggagtacctgcggggcat	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3179636C>T	ENST00000246115.3	+	1	901	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	282					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ACCTCTGGGCCCAGGAGTACC	0.642																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(844-846)gcC>gcT		sphingosine-1-phosphate receptor 4							76	76	76					19																	3179636		2203	4300	6503	SO:0001819	synonymous_variant	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179636C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.846C>T	19.37:g.3179636C>T							p.A282A	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	901	+			282					D6W612	Silent	SNP	ENST00000246115.3	37	c.846C>T	CCDS12105.1																																																																																				0.642	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		74	709	0	0	0	1	0	74	709					T	3179636	C	T	3179636	2	4	79	1	0	0	0	0	0	0	0	1	13846	610	22	2		2	S1PR4	19	3179636	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688	3179636	55949347	18351	28668											
NCLN	56926	broad.mit.edu	37	chr19	3192496	3192496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagtgctgaacacggaGgcgcgcacgatggcggcgga	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3192496G>A	ENST00000246117.4	+	2	644	c.213G>A	c.(211-213)gaG>gaA	p.E71E	NCLN_ENST00000590671.1_5'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	71					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACACGGAGGCGCGCACGA	0.697																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(211-213)gaG>gaA		nicalin							15	15	15					19																	3192496		2175	4238	6413	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3192496G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.213G>A	19.37:g.3192496G>A						NCLN_ENST00000590671.1_5'UTR	p.E71E	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	2	644	+		Hepatocellular(1079;0.137)	71					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.213G>A	CCDS32869.1																																																																																				0.697	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		35	140	0	0	0	1	0	35	140					A	3192496	G	A	3192496	2	1	79	1	0	0	0	0	0	0	0	1	10269	991	35	2		2	NCLN	19	3192496	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12860	3192496	55936487	18352	28669											
CELF5	60680	broad.mit.edu	37	chr19	3281290	3281290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtgggccagctgggcatcCtgacgccgtccctcacattg	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3281290C>A	ENST00000292672.2	+	6	734	c.697C>A	c.(697-699)Ctg>Atg	p.L233M	CELF5_ENST00000541430.2_Missense_Mutation_p.L233M	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	233					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCTGGGCATCCTGACGCCGTC	0.662																																						ENST00000541430.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(697-699)Ctg>Atg		CUGBP, Elav-like family member 5							103	89	94					19																	3281290		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3281290C>A	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.697C>A	19.37:g.3281290C>A	ENSP00000292672:p.Leu233Met					CELF5_ENST00000292672.2_Missense_Mutation_p.L233M	p.L233M	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN			6	733	+			233					D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.697C>A	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291455	0.40494	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.30981	2.16;1.59;1.51	3.73	2.39	0.29439	.	0.272295	0.35378	N	0.003255	T	0.28234	0.0697	N	0.25992	0.78	0.37470	D	0.915569	B;P;B	0.51147	0.126;0.942;0.04	B;P;B	0.55824	0.043;0.785;0.027	T	0.16630	-1.0396	10	0.56958	D	0.05	-4.319	3.4995	0.07668	0.0:0.5817:0.0:0.4183	.	119;233;233	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	M	233;233;119	ENSP00000292672:L233M;ENSP00000443498:L233M;ENSP00000335182:L119M	ENSP00000292672:L233M	L	+	1	2	CELF5	3232290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.788000	0.38714	1.813000	0.52934	0.462000	0.41574	CTG		0.662	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		20	665	1	0	6.44725e-10	1	6.81304e-10	20	665					A	3281290	C	A	3281290	3	1	79	1	0	0	0	0	1	0	0	0	3228	680	24	3	719	3	CELF5	19	3281290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88794	3281290	55847693	18353	28670											
NFIC	4782	broad.mit.edu	37	chr19	3381920	3381920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctgctggccaagctgCgcaaggacatccggcccgag	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3381920C>T	ENST00000443272.2	+	2	292	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000589123.1_Missense_Mutation_p.R72C|NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	81					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCCAAGCTGCGCAAGGACAT	0.672																																						ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(214-216)Cgc>Tgc		nuclear factor I/C (CCAAT-binding transcription factor)							80	87	85					19																	3381920		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3381920C>T	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.241C>T	19.37:g.3381920C>T	ENSP00000396843:p.Arg81Cys					NFIC_ENST00000590282.1_Missense_Mutation_p.R81C|NFIC_ENST00000346156.5_Missense_Mutation_p.R72C|NFIC_ENST00000586919.1_Missense_Mutation_p.R72C|NFIC_ENST00000443272.2_Missense_Mutation_p.R81C|NFIC_ENST00000341919.3_Missense_Mutation_p.R81C|NFIC_ENST00000395111.3_Missense_Mutation_p.R72C	p.R72C	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	334	+		Hepatocellular(1079;0.137)	81					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.214C>T	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363580	0.61513	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.78246	-1.16;-1.16;-1.16	3.88	1.71	0.24356	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.71581	2.175	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;0.998;0.997;0.997;0.997	T	0.82851	-0.0253	10	0.87932	D	0	.	8.8194	0.35016	0.0:0.8083:0.0:0.1917	.	81;81;72;81;72	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	C	72;72;72;81;81;81	ENSP00000378543:R72C;ENSP00000301935:R72C;ENSP00000342194:R81C	ENSP00000269778:R81C	R	+	1	0	NFIC	3332920	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.438000	0.44837	0.251000	0.21505	-0.373000	0.07131	CGC		0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		170	667	0	0	0	1	0	170	667					T	3381920	C	T	3381920	3	4	79	1	0	0	0	0	1	0	0	0	10414	768	27	1	254	1	NFIC	19	3381920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100630	3381920	55747063	18354	28671											
NFIC	4782	broad.mit.edu	37	chr19	3452485	3452485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgtctccgcagggatcGcccggagcccacacccgtcc	10	20	1	0	rs552912326	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3452485G>A	ENST00000443272.2	+	8	1141	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000589123.1_Missense_Mutation_p.A355T|NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	364					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGCAGGGATCGCCCGGAGCCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		13230	0.0		0.0	False		,,,				2504	0.002					ENST00000589123.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(1063-1065)Gcc>Acc		nuclear factor I/C (CCAAT-binding transcription factor)							163	160	161					19																	3452485		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3452485G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.1090G>A	19.37:g.3452485G>A	ENSP00000396843:p.Ala364Thr					NFIC_ENST00000590282.1_Missense_Mutation_p.A364T|NFIC_ENST00000346156.5_Missense_Mutation_p.A331T|NFIC_ENST00000586919.1_Missense_Mutation_p.A331T|NFIC_ENST00000443272.2_Missense_Mutation_p.A364T|NFIC_ENST00000341919.3_Missense_Mutation_p.A364T|NFIC_ENST00000395111.3_Missense_Mutation_p.A355T	p.A355T	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	8	1183	+		Hepatocellular(1079;0.137)	364					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.1063G>A	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665287	0.29604	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.46063	0.88;0.88;0.88	4.16	3.12	0.35913	.	0.208639	0.40908	N	0.001000	T	0.30634	0.0771	L	0.39020	1.185	0.28084	N	0.932087	B;B;B;B;B	0.23377	0.044;0.084;0.007;0.007;0.017	B;B;B;B;B	0.17979	0.01;0.02;0.004;0.004;0.012	T	0.15521	-1.0434	10	0.30078	T	0.28	.	10.8694	0.46875	0.0944:0.0:0.9056:0.0	.	364;364;355;364;355	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	T	355;355;331;364;364;364	ENSP00000378543:A355T;ENSP00000301935:A331T;ENSP00000342194:A364T	ENSP00000269778:A364T	A	+	1	0	NFIC	3403485	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.666000	0.46799	0.757000	0.33036	-0.226000	0.12346	GCC		0.652	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		308	1403	0	0	0	1	0	308	1403					A	3452485	G	A	3452485	3	1	79	1	0	0	0	0	1	0	0	0	10414	1087	38	1	1127	1	NFIC	19	3452485	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70565	3452485	55676498	18355	28672											
C19orf28	126321	broad.mit.edu	37	chr19	3547282	3547282	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactcacgttcctcccaatGcacttgttgatgggcttcat	7	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547282G>A	ENST00000355415.2	-	6	1180	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'Flank|MFSD12_ENST00000389395.3_Silent_p.C337C|MFSD12_ENST00000398558.4_Silent_p.C337C	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	337					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCTCCCAATGCACTTGTTGA	0.637																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(1009-1011)tgC>tgT		major facilitator superfamily domain containing 12							68	73	71					19																	3547282		2004	4162	6166	SO:0001819	synonymous_variant	126321				transmembrane transport	integral to membrane		g.chr19:3547282G>A	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.1011C>T	19.37:g.3547282G>A						AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Silent_p.C337C|MFSD12_ENST00000389395.3_Silent_p.C337C	p.C337C	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			6	1180	-			337					A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	c.1011C>T	CCDS42465.1																																																																																				0.637	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		64	415	0	0	0	1	0	64	415					A	3547282	G	A	3547282	2	1	79	1	0	0	0	0	0	0	0	1	1924	1311	46	2		2	C19orf28	19	3547282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94797	3547282	55581701	18356	28673											
C19orf28	126321	broad.mit.edu	37	chr19	3547970	3547970	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgcctctcccgggtgCccaggtggaatagcagtgag	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547970C>T	ENST00000355415.2	-	4	882	c.713G>A	c.(712-714)gGc>gAc	p.G238D	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.G238D|MFSD12_ENST00000398558.4_Missense_Mutation_p.G238D	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	238					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CTCCCGGGTGCCCAGGTGGAA	0.701																																						ENST00000355415.2																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(712-714)gGc>gAc		major facilitator superfamily domain containing 12							15	19	17					19																	3547970		1969	4102	6071	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3547970C>T	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.713G>A	19.37:g.3547970C>T	ENSP00000347583:p.Gly238Asp					AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.G238D|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.G238D	p.G238D	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN			4	882	-			238					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.713G>A	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862734	0.91511	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.81247	-1.47;-1.47;-1.47	4.62	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);	0.099649	0.64402	D	0.000002	D	0.90099	0.6907	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.83275	0.987;0.979;0.996	D	0.91496	0.5215	10	0.59425	D	0.04	-28.9866	16.4743	0.84128	0.0:1.0:0.0:0.0	.	238;229;238	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	D	238	ENSP00000374046:G238D;ENSP00000381566:G238D;ENSP00000347583:G238D	ENSP00000347583:G238D	G	-	2	0	C19orf28	3498970	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.409000	0.66374	2.112000	0.64535	0.555000	0.69702	GGC		0.701	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983		46	168	0	0	0	1	0	46	168					T	3547970	C	T	3547970	3	4	79	1	0	0	0	0	1	0	0	0	1924	739	26	2	964	2	C19orf28	19	3547970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	688	3547970	55581013	18357	28674											
HMG20B	10362	broad.mit.edu	37	chr19	3576607	3576607	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccatcttcactgaagagttCttggaccaaaacaaaggtga	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3576607C>A	ENST00000333651.6	+	7	651	c.576C>A	c.(574-576)ttC>ttA	p.F192L	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	192					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)		CTGAAGAGTTCTTGGACCAAA	0.572																																						ENST00000333651.6																			0				cervix(1)	1						c.(574-576)ttC>ttA		high mobility group 20B							71	72	71					19																	3576607		2008	4159	6167	SO:0001583	missense	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3576607C>A	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.576C>A	19.37:g.3576607C>A	ENSP00000328269:p.Phe192Leu						p.F192L	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	7	651	+		Hepatocellular(1079;0.137)	192					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	ENST00000333651.6	37	c.576C>A	CCDS45919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.504858|4.504858	0.85176|0.85176	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000262949|ENST00000402569	D;T|.	0.85556|.	-2.0;-0.74|.	4.87|4.87	1.54|1.54	0.23209|0.23209	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.72510|0.72510	0.3469|0.3469	M|M	0.85197|0.85197	2.74|2.74	0.46749|0.46749	D|D	0.999183|0.999183	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.71076|0.71076	-0.4697|-0.4697	10|6	0.40728|0.87932	T|D	0.16|0	-23.6179|-23.6179	7.2297|7.2297	0.26036|0.26036	0.0:0.6278:0.0:0.3722|0.0:0.6278:0.0:0.3722	.|.	192;192|.	A8K0D5;Q9P0W2|.	.;HM20B_HUMAN|.	L|Y	192;192;209|23	ENSP00000410924:F192L;ENSP00000328269:F192L|.	ENSP00000262949:F209L|ENSP00000385987:S23Y	F|S	+|+	3|2	2|0	HMG20B|HMG20B	3527607|3527607	0.277000|0.277000	0.24220|0.24220	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	-0.222000|-0.222000	0.09190|0.09190	0.116000|0.116000	0.18110|0.18110	0.561000|0.561000	0.74099|0.74099	TTC|TCT		0.572	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339		25	75	1	0	3.83957e-06	1	3.94984e-06	25	75					A	3576607	C	A	3576607	3	1	79	1	0	0	0	0	1	0	0	0	7252	912	32	3	598	3	HMG20B	19	3576607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28637	3576607	55552376	18358	28675											
GIPC3	126326	broad.mit.edu	37	chr19	3586949	3586949	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggagctgcccaagtcCcagcccttcaccctgcgcct	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3586949C>T	ENST00000322315.5	+	3	594	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	183	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCA	0.657											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322315.5																			1	Substitution - Missense(1)	p.Q184E(1)	lung(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(547-549)tcC>tcT		GIPC PDZ domain containing family, member 3							35	34	34					19																	3586949		2202	4299	6501	SO:0001819	synonymous_variant	126326							g.chr19:3586949C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.549C>T	19.37:g.3586949C>T			OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.S183S	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	3	594	+			183			PDZ.		O75227	Silent	SNP	ENST00000322315.5	37	c.549C>T	CCDS32871.1																																																																																				0.657	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		34	133	0	0	0	1	0	34	133					T	3586949	C	T	3586949	2	4	79	1	0	0	0	0	0	0	0	1	6423	610	22	2		2	GIPC3	19	3586949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10342	3586949	55542034	18359	28676											
TBXA2R	6915	broad.mit.edu	37	chr19	3595695	3595695	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtccacttcctactgcagCccggagcgctgcgtgagctg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3595695C>T	ENST00000375190.4	-	3	1416	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Intron|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A212T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	341					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)	CCTACTGCAGCCCGGAGCGCT	0.701																																						ENST00000589966.1																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(634-636)Gct>Act		thromboxane A2 receptor	Ridogrel(DB01207)						10	13	12					19																	3595695		2049	4161	6210	SO:0001819	synonymous_variant	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3595695C>T		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.1023G>A	19.37:g.3595695C>T						TBXA2R_ENST00000375190.4_Silent_p.G341G|TBXA2R_ENST00000411851.3_Intron	p.A212T			P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	668	-		Hepatocellular(1079;0.137)	0					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.634G>A	CCDS42467.1																																																																																				0.701	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			15	34	0	0	0	1	0	15	34					T	3595695	C	T	3595695	2	4	79	1	0	0	0	0	0	0	0	1	15715	726	26	2		2	TBXA2R	19	3595695	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8746	3595695	55533288	18360	28677											
TBXA2R	6915	broad.mit.edu	37	chr19	3600484	3600484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacccccctgccgcgcgcccGccagcacgctcagggccagc	11	22	1	0	rs376053867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3600484G>A	ENST00000375190.4	-	2	542	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	50					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)	CCGCGCGCCCGCCAGCACGCT	0.697																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(148-150)gCg>gTg		thromboxane A2 receptor	Ridogrel(DB01207)						16	27	24					19																	3600484		2105	4175	6280	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600484G>A		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.149C>T	19.37:g.3600484G>A	ENSP00000364336:p.Ala50Val					TBXA2R_ENST00000589966.1_Missense_Mutation_p.A50V|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A50V	p.A50V	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	542	-		Hepatocellular(1079;0.137)	50					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.149C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	6.076	0.382300	0.11524	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.36699	1.24;1.24	4.56	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.421699	0.23405	N	0.048533	T	0.16385	0.0394	L	0.35723	1.085	0.26961	N	0.965801	B;P	0.36086	0.031;0.536	B;B	0.28385	0.011;0.089	T	0.22591	-1.0212	10	0.02654	T	1	-16.8206	3.4159	0.07376	0.29:0.0:0.5265:0.1836	.	50;50	P21731;E2QRJ2	TA2R_HUMAN;.	V	50	ENSP00000393333:A50V;ENSP00000364336:A50V	ENSP00000364336:A50V	A	-	2	0	TBXA2R	3551484	0.822000	0.29219	0.371000	0.25978	0.224000	0.24922	1.946000	0.40283	0.441000	0.26529	-0.652000	0.03908	GCG		0.697	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			29	198	0	0	0	1	0	29	198					A	3600484	G	A	3600484	3	1	79	1	0	0	0	0	1	0	0	0	15715	1087	38	1	1135	1	TBXA2R	19	3600484	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4789	3600484	55528499	18361	28678											
C19orf29	58509	broad.mit.edu	37	chr19	3624041	3624041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggcgagcccactggcccCgtgactgctcctctcctgag	12	18	1	2	rs538539255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3624041C>T	ENST00000429344.2	-	2	339	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	CACTIN_ENST00000248420.5_Missense_Mutation_p.R96Q|CACTIN_ENST00000221899.3_Missense_Mutation_p.R28Q	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	96					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CCACTGGCCCCGTGACTGCTC	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		14363	0.001		0.0	False		,,,				2504	0.0					ENST00000429344.2																			0											c.(286-288)cGg>cAg		cactin, spliceosome C complex subunit							27	34	32					19																	3624041		1994	4117	6111	SO:0001583	missense	58509							g.chr19:3624041C>T	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.287G>A	19.37:g.3624041C>T	ENSP00000415078:p.Arg96Gln					CACTIN_ENST00000221899.3_Missense_Mutation_p.R28Q|CACTIN_ENST00000248420.5_Missense_Mutation_p.R96Q	p.R96Q	NM_001080543.1	NP_001074012.1					2	339	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.287G>A	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741046	0.49151	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.81	-1.25	0.09405	.	4.021300	0.02021	N	0.047798	T	0.19005	0.0456	N	0.03115	-0.41	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24404	-1.0161	9	0.45353	T	0.12	.	8.1263	0.31001	0.0:0.5735:0.0:0.4265	.	96	Q8WUQ7	CS029_HUMAN	Q	96;96;28	.	ENSP00000221899:R28Q	R	-	2	0	C19orf29	3575041	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.589000	0.05767	-0.404000	0.07610	0.561000	0.74099	CGG		0.711	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			81	309	0	0	0	1	0	81	309					T	3624041	C	T	3624041	3	4	79	1	0	0	0	0	1	0	0	0	1925	652	23	1	2025	1	C19orf29	19	3624041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23557	3624041	55504942	18362	28679											
PIP5K1C	23396	broad.mit.edu	37	chr19	3644083	3644083	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactctgccctctgcccctcAccttcgtcctccagcgtggg	8	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3644083A>G	ENST00000335312.3	-	12	1599		c.e12+1		PIP5K1C_ENST00000589578.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site|PIP5K1C_ENST00000537021.1_Splice_Site	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma						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)		TCTGCCCCTCACCTTCGTCCT	0.711																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.e12+1		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							33	39	37					19																	3644083		2193	4285	6478	SO:0001630	splice_region_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3644083A>G	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.1510+1T>C	19.37:g.3644083A>G						PIP5K1C_ENST00000589578.1_Splice_Site|PIP5K1C_ENST00000537021.1_Splice_Site|PIP5K1C_ENST00000539785.1_Splice_Site		NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1599	-		Hepatocellular(1079;0.137)						B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Splice_Site	SNP	ENST00000335312.3	37		CCDS32872.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.395140	0.25205	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.66	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8133	0.46559	0.8408:0.1592:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIP5K1C	3595083	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	6.952000	0.75989	0.644000	0.30656	-0.513000	0.04457	.		0.711	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398	Intron	73	369	0	0	0	1	0	73	369					G	3644083	A	G	3644083	5	3	79	1	0	0	0	0	0	0	1	0	11983	173	6	4	522	4	PIP5K1C	19	3644083	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	20042	3644083	55484900	18363	28680											
TJP3	27134	broad.mit.edu	37	chr19	3730576	3730576	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggccggcagccatgggcGtaggagcccaggtggtggct	19	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3730576G>A	ENST00000541714.2	+	5	947	c.485G>A	c.(484-486)cGt>cAt	p.R162H	TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000382008.3_Missense_Mutation_p.R162H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000589378.1_Missense_Mutation_p.R171H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	162					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)		AGCCATGGGCGTAGGAGCCCA	0.711																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(484-486)cGt>cAt		tight junction protein 3							18	19	18					19																	3730576		2175	4225	6400	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3730576G>A	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.485G>A	19.37:g.3730576G>A	ENSP00000439278:p.Arg162His					TJP3_ENST00000382008.3_Missense_Mutation_p.R162H|TJP3_ENST00000262968.9_Missense_Mutation_p.R181H|TJP3_ENST00000587686.1_Missense_Mutation_p.R181H|TJP3_ENST00000539908.2_Missense_Mutation_p.R126H|TJP3_ENST00000589378.1_Missense_Mutation_p.R171H	p.R162H	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	5	947	+			162					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.485G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422210	0.25639	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10005	2.94;3.09;2.92;3.02	3.75	2.68	0.31781	.	0.912560	0.09230	N	0.830629	T	0.11750	0.0286	L	0.27053	0.805	0.09310	N	1	D;P;D;D	0.63046	0.989;0.923;0.992;0.98	P;P;B;P	0.51170	0.661;0.487;0.379;0.661	T	0.29882	-0.9997	10	0.27082	T	0.32	.	7.5557	0.27822	0.0:0.1813:0.6317:0.187	.	181;181;162;162	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	H	162;126;162;181	ENSP00000439278:R162H;ENSP00000439991:R126H;ENSP00000371438:R162H;ENSP00000262968:R181H	ENSP00000262968:R181H	R	+	2	0	TJP3	3681576	0.998000	0.40836	0.370000	0.25965	0.078000	0.17371	4.502000	0.60400	0.752000	0.32923	0.491000	0.48974	CGT		0.711	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			53	213	0	0	0	1	0	53	213					A	3730576	G	A	3730576	3	1	79	1	0	0	0	0	1	0	0	0	15983	1145	40	1	556	1	TJP3	19	3730576	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86493	3730576	55398407	18364	28681											
TJP3	27134	broad.mit.edu	37	chr19	3735569	3735569	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttccccaccagggagaGtccccggcttcggcgggaaa	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3735569G>A	ENST00000541714.2	+	9	1454	c.992G>A	c.(991-993)aGt>aAt	p.S331N	TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000382008.3_Missense_Mutation_p.S345N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	331					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)		ACCAGGGAGAGTCCCCGGCTT	0.552																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(991-993)aGt>aAt		tight junction protein 3							92	102	98					19																	3735569		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3735569G>A	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.992G>A	19.37:g.3735569G>A	ENSP00000439278:p.Ser331Asn					TJP3_ENST00000382008.3_Missense_Mutation_p.S345N|TJP3_ENST00000262968.9_Missense_Mutation_p.S364N|TJP3_ENST00000587686.1_Missense_Mutation_p.S350N|TJP3_ENST00000539908.2_Missense_Mutation_p.S295N|TJP3_ENST00000589378.1_Missense_Mutation_p.S340N	p.S331N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1454	+			345					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.992G>A	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	0.690	-0.794754	0.02862	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.09255	3.0;3.15;3.04;3.13	3.35	1.06	0.20224	.	1.018930	0.07818	N	0.959273	T	0.08891	0.0220	L	0.29908	0.895	0.24971	N	0.991662	B;B;B;B	0.12630	0.003;0.006;0.003;0.003	B;B;B;B	0.16289	0.005;0.015;0.004;0.005	T	0.39482	-0.9612	10	0.30854	T	0.27	.	9.3428	0.38089	0.0:0.4549:0.5451:0.0	.	350;364;345;331	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	N	331;295;345;364	ENSP00000439278:S331N;ENSP00000439991:S295N;ENSP00000371438:S345N;ENSP00000262968:S364N	ENSP00000262968:S364N	S	+	2	0	TJP3	3686569	0.854000	0.29725	0.539000	0.28077	0.153000	0.21895	1.145000	0.31577	0.377000	0.24735	0.511000	0.50034	AGT		0.552	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			22	784	0	0	0	1	0	22	784					A	3735569	G	A	3735569	3	1	79	1	0	0	0	0	1	0	0	0	15983	1029	36	2	1121	2	TJP3	19	3735569	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4993	3735569	55393414	18365	28682											
TJP3	27134	broad.mit.edu	37	chr19	3744015	3744015	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttgactgctgagatgcctgAccagtttgaaatcgcaggtg	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3744015A>G	ENST00000541714.2	+	15	2384	c.1922A>G	c.(1921-1923)gAc>gGc	p.D641G	TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000382008.3_Missense_Mutation_p.D655G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000589378.1_Missense_Mutation_p.D650G|TJP3_ENST00000587686.1_Missense_Mutation_p.D660G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	641	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)		GAGATGCCTGACCAGTTTGAA	0.522																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1921-1923)gAc>gGc		tight junction protein 3							108	99	102					19																	3744015		2203	4300	6503	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3744015A>G	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.1922A>G	19.37:g.3744015A>G	ENSP00000439278:p.Asp641Gly					TJP3_ENST00000382008.3_Missense_Mutation_p.D655G|TJP3_ENST00000262968.9_Missense_Mutation_p.D674G|TJP3_ENST00000587686.1_Missense_Mutation_p.D660G|TJP3_ENST00000539908.2_Missense_Mutation_p.D605G|TJP3_ENST00000589378.1_Missense_Mutation_p.D650G	p.D641G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2384	+			655			Guanylate kinase-like.		A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.1922A>G	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027520	0.75390	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.10382	2.88;3.04;2.88;2.95	4.68	4.68	0.58851	Guanylate kinase/L-type calcium channel (1);	0.356896	0.31589	N	0.007385	T	0.17323	0.0416	L	0.59436	1.845	0.54753	D	0.999989	P;B;P;P	0.52061	0.95;0.032;0.9;0.735	P;B;P;P	0.47705	0.555;0.073;0.502;0.543	T	0.00878	-1.1530	10	0.87932	D	0	.	12.1035	0.53798	1.0:0.0:0.0:0.0	.	660;674;655;641	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	G	641;605;655;674	ENSP00000439278:D641G;ENSP00000439991:D605G;ENSP00000371438:D655G;ENSP00000262968:D674G	ENSP00000262968:D674G	D	+	2	0	TJP3	3695015	1.000000	0.71417	0.867000	0.34043	0.960000	0.62799	6.024000	0.70857	1.742000	0.51746	0.533000	0.62120	GAC		0.522	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			9	367	0	0	0	1	0	9	367					G	3744015	A	G	3744015	3	3	79	1	0	0	0	0	1	0	0	0	15983	275	10	4	2075	4	TJP3	19	3744015	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8446	3744015	55384968	18366	28683											
TJP3	27134	broad.mit.edu	37	chr19	3747908	3747908	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgagacggacggcgagggCggcgcgtacacggatggcga	19	10	0	1	rs565405323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3747908C>T	ENST00000541714.2	+	19	2901	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000382008.3_Silent_p.G827G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000589378.1_Silent_p.G822G|TJP3_ENST00000587686.1_Silent_p.G832G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	813					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)		ACGGCGAGGGCGGCGCGTACA	0.692																																						ENST00000541714.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(2437-2439)ggC>ggT		tight junction protein 3							36	32	33					19																	3747908		2202	4299	6501	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3747908C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2439C>T	19.37:g.3747908C>T						TJP3_ENST00000382008.3_Silent_p.G827G|TJP3_ENST00000262968.9_Silent_p.G846G|TJP3_ENST00000587686.1_Silent_p.G832G|TJP3_ENST00000539908.2_Silent_p.G777G|TJP3_ENST00000589378.1_Silent_p.G822G	p.G813G	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	19	2901	+			827					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.2439C>T	CCDS32873.2																																																																																				0.692	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			39	200	0	0	0	1	0	39	200					T	3747908	C	T	3747908	2	4	79	1	0	0	0	0	0	0	0	1	15983	755	27	1		1	TJP3	19	3747908	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3893	3747908	55381075	18367	28684											
APBA3	9546	broad.mit.edu	37	chr19	3753771	3753771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgctcacgtcctccgCgtagaatacgtggcagagca	12	13	1	2	rs368746082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3753771C>T	ENST00000316757.3	-	6	1203	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	AC005954.3_ENST00000591962.1_RNA|AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	335	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCTCCGCGTAGAATACG	0.697																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(1003-1005)Gcg>Acg		amyloid beta (A4) precursor protein-binding, family A, member 3		C	THR/ALA	0,4356		0,0,2178	9	9	9		1003	0.3	0.2	19		9	1,8525		0,1,4262	no	missense	APBA3	NM_004886.3	58	0,1,6440	TT,TC,CC		0.0117,0.0,0.0078	benign	335/576	3753771	1,12881	2178	4263	6441	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3753771C>T	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1003G>A	19.37:g.3753771C>T	ENSP00000315136:p.Ala335Thr						p.A335T	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1203	-		Hepatocellular(1079;0.137)	335			PID.		O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.1003G>A	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	9.751	1.167534	0.21621	0.0	1.17E-4	ENSG00000011132	ENST00000316757	T	0.21932	1.98	3.79	0.307	0.15811	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.376195	0.24806	N	0.035454	T	0.11879	0.0289	N	0.22421	0.69	0.34009	D	0.651232	B	0.02656	0.0	B	0.06405	0.002	T	0.07102	-1.0790	10	0.59425	D	0.04	.	6.2697	0.20947	0.5328:0.3195:0.0:0.1477	.	335	O96018	APBA3_HUMAN	T	335	ENSP00000315136:A335T	ENSP00000315136:A335T	A	-	1	0	APBA3	3704771	1.000000	0.71417	0.168000	0.22838	0.106000	0.19336	3.528000	0.53524	-0.388000	0.07797	-1.516000	0.00938	GCG		0.697	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			11	36	0	0	0	1	0	11	36					T	3753771	C	T	3753771	3	4	79	1	0	0	0	0	1	0	0	0	758	768	27	1	748	1	APBA3	19	3753771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5863	3753771	55375212	18368	28685											
MRPL54	116541	broad.mit.edu	37	chr19	3762792	3762792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccggaagactcctgGcccgggattatgccaagaaa	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3762792G>A	ENST00000330133.4	+	1	131	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	32						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACTCCTGGCCCGGGATTA	0.622																																						ENST00000330133.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(94-96)Gcc>Acc		mitochondrial ribosomal protein L54							31	36	34					19																	3762792		2203	4299	6502	SO:0001583	missense	116541					mitochondrion|ribosome		g.chr19:3762792G>A		CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"Mitochondrial ribosomal proteins / large subunits"	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.94G>A	19.37:g.3762792G>A	ENSP00000331849:p.Ala32Thr						p.A32T	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	1	131	+		Hepatocellular(1079;0.137)	32						Missense_Mutation	SNP	ENST00000330133.4	37	c.94G>A	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949224	0.34377	.	.	ENSG00000183617	ENST00000330133	.	.	.	5.57	0.971	0.19698	.	0.742997	0.12541	N	0.459920	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.12156	0.007	T	0.25152	-1.0140	9	0.21014	T	0.42	-5.2624	4.7361	0.12988	0.2703:0.0:0.5624:0.1673	.	32	Q6P161	RM54_HUMAN	T	32	.	ENSP00000331849:A32T	A	+	1	0	MRPL54	3713792	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	0.741000	0.26202	0.393000	0.25203	-0.367000	0.07326	GCC		0.622	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		46	371	0	0	0	1	0	46	371					A	3762792	G	A	3762792	3	1	79	1	0	0	0	0	1	0	0	0	9859	1203	42	2	96	2	MRPL54	19	3762792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9021	3762792	55366191	18369	28686											
MATK	4145	broad.mit.edu	37	chr19	3783843	3783843	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaggttgcagaagaacAcggcctcatcgattgtgagg	13	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3783843A>G	ENST00000310132.6	-	6	949	c.551T>C	c.(550-552)gTg>gCg	p.V184A	MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A|MATK_ENST00000395045.2_Missense_Mutation_p.V185A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	184	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)		GCAGAAGAACACGGCCTCATC	0.667																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(550-552)gTg>gCg		megakaryocyte-associated tyrosine kinase							57	49	52					19																	3783843		2203	4299	6502	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3783843A>G	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.551T>C	19.37:g.3783843A>G	ENSP00000308734:p.Val184Ala					MATK_ENST00000395040.2_Missense_Mutation_p.V143A|MATK_ENST00000585778.1_Missense_Mutation_p.V184A|MATK_ENST00000395045.2_Missense_Mutation_p.V185A	p.V184A	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	949	-		Hepatocellular(1079;0.137)	184			SH2.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.551T>C	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324334	0.41197	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.87966	-2.32;-2.32;-2.32	4.81	3.8	0.43715	SH2 motif (4);	0.663300	0.14471	N	0.317543	T	0.78387	0.4275	L	0.28014	0.82	0.27380	N	0.955432	P;P;P	0.44521	0.695;0.837;0.695	B;P;B	0.47430	0.328;0.547;0.328	T	0.67337	-0.5696	10	0.06757	T	0.87	-34.2197	4.188	0.10407	0.6184:0.0:0.0937:0.2879	.	184;185;184	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	A	185;184;143	ENSP00000378485:V185A;ENSP00000308734:V184A;ENSP00000378481:V143A	ENSP00000308734:V184A	V	-	2	0	MATK	3734843	0.000000	0.05858	0.995000	0.50966	0.939000	0.58152	0.779000	0.26746	0.708000	0.31955	0.459000	0.35465	GTG		0.667	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		21	203	0	0	0	1	0	21	203					G	3783843	A	G	3783843	3	3	79	1	0	0	0	0	1	0	0	0	9373	159	6	4	1008	4	MATK	19	3783843	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21051	3783843	55345140	18370	28687											
MATK	4145	broad.mit.edu	37	chr19	3784220	3784220	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactggtgtggtgcttgacGcggtaccagctcttgttctg	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3784220G>A	ENST00000310132.6	-	5	662	c.264C>T	c.(262-264)cgC>cgT	p.R88R	MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000585778.1_Silent_p.R88R|MATK_ENST00000395045.2_Silent_p.R89R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	88	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		GGTGCTTGACGCGGTACCAGC	0.692																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(262-264)cgC>cgT		megakaryocyte-associated tyrosine kinase							55	60	58					19																	3784220		2203	4300	6503	SO:0001819	synonymous_variant	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784220G>A	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.264C>T	19.37:g.3784220G>A						MATK_ENST00000395040.2_Silent_p.R47R|MATK_ENST00000585778.1_Silent_p.R88R|MATK_ENST00000395045.2_Silent_p.R89R	p.R88R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	662	-		Hepatocellular(1079;0.137)	88			SH3.		B3KNZ9|Q9NST8	Silent	SNP	ENST00000310132.6	37	c.264C>T	CCDS12114.1																																																																																				0.692	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		82	343	0	0	0	1	0	82	343					A	3784220	G	A	3784220	2	1	79	1	0	0	0	0	0	0	0	1	9373	1074	38	1		1	MATK	19	3784220	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377	3784220	55344763	18371	28688											
ZFR2	23217	broad.mit.edu	37	chr19	3813948	3813948	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacctcatactcatcctcGgtcaccatctgggaggggta	11	12	4	1	rs375016343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3813948G>A	ENST00000262961.4	-	14	2122	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	704	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T704T(1)		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)		ACTCATCCTCGGTCACCATCT	0.507																																						ENST00000262961.4																			1	Substitution - coding silent(1)	p.T704T(1)	kidney(1)	central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16						c.(2110-2112)acC>acT		zinc finger RNA binding protein 2		A		0,4146		0,0,2073	58	62	61		2112	-9.4	0	19		61	1,8409		0,1,4204	no	coding-synonymous	ZFR2	NM_015174.1		0,1,6277	AA,AG,GG		0.0119,0.0,0.0080		704/940	3813948	1,12555	2073	4205	6278	SO:0001819	synonymous_variant	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3813948G>A	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.2112C>T	19.37:g.3813948G>A							p.T704T	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	14	2122	-			704						Silent	SNP	ENST00000262961.4	37	c.2112C>T	CCDS45921.1																																																																																				0.507	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		38	150	0	0	0	1	0	38	150					A	3813948	G	A	3813948	2	1	79	1	0	0	0	0	0	0	0	1	17713	1103	39	1		1	ZFR2	19	3813948	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29728	3813948	55315035	18372	28689											
ATCAY	85300	broad.mit.edu	37	chr19	3909544	3909544	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatgatcgtgtacctgaaCggtgccacgccccggcggag	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3909544C>T	ENST00000450849.2	+	7	1175	c.708C>T	c.(706-708)aaC>aaT	p.N236N	ATCAY_ENST00000600960.1_Silent_p.N236N|ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000398448.3_Silent_p.N242N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	236	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				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)		TGTACCTGAACGGTGCCACGC	0.607																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(706-708)aaC>aaT		ataxia, cerebellar, Cayman type							50	55	53					19																	3909544		2132	4241	6373	SO:0001819	synonymous_variant	85300				transport		protein binding	g.chr19:3909544C>T		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.708C>T	19.37:g.3909544C>T						ATCAY_ENST00000398448.3_Silent_p.N242N|ATCAY_ENST00000301260.6_Silent_p.N236N|ATCAY_ENST00000600960.1_Silent_p.N236N	p.N236N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	7	1175	+		Hepatocellular(1079;0.137)	236			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	c.708C>T	CCDS45923.1																																																																																				0.607	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			33	137	0	0	0	1	0	33	137					T	3909544	C	T	3909544	2	4	79	1	0	0	0	0	0	0	0	1	1078	535	19	1		1	ATCAY	19	3909544	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95596	3909544	55219439	18373	28690											
ATCAY	85300	broad.mit.edu	37	chr19	3910849	3910849	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcgtccacccctcgtggttCattcggactgtgctggccat	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3910849C>T	ENST00000450849.2	+	8	1295	c.828C>T	c.(826-828)ttC>ttT	p.F276F	ATCAY_ENST00000600960.1_Silent_p.F276F|ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000398448.3_Silent_p.F282F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	276	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				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)		CCTCGTGGTTCATTCGGACTG	0.602																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(826-828)ttC>ttT		ataxia, cerebellar, Cayman type							122	131	128					19																	3910849		2138	4237	6375	SO:0001819	synonymous_variant	85300				transport		protein binding	g.chr19:3910849C>T		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.828C>T	19.37:g.3910849C>T						ATCAY_ENST00000398448.3_Silent_p.F282F|ATCAY_ENST00000301260.6_Silent_p.F276F|ATCAY_ENST00000600960.1_Silent_p.F276F	p.F276F	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	8	1295	+		Hepatocellular(1079;0.137)	276			CRAL-TRIO.		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	c.828C>T	CCDS45923.1																																																																																				0.602	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			78	328	0	0	0	1	0	78	328					T	3910849	C	T	3910849	2	4	79	1	0	0	0	0	0	0	0	1	1078	825	29	2		2	ATCAY	19	3910849	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1305	3910849	55218134	18374	28691											
ATCAY	85300	broad.mit.edu	37	chr19	3917763	3917763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaggaaagactgaaggCcaggagggagaggtgtgtgc	19	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3917763C>T	ENST00000450849.2	+	10	1456	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V|RN7SL202P_ENST00000584410.1_RNA|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	330	Mediates interaction with GLS.				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)		AGACTGAAGGCCAGGAGGGAG	0.522																																						ENST00000450849.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(988-990)gCc>gTc		ataxia, cerebellar, Cayman type							71	78	76					19																	3917763		1906	4105	6011	SO:0001583	missense	85300				transport		protein binding	g.chr19:3917763C>T		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.989C>T	19.37:g.3917763C>T	ENSP00000390941:p.Ala330Val					ATCAY_ENST00000398448.3_Missense_Mutation_p.A336V|ATCAY_ENST00000301260.6_Missense_Mutation_p.A330V|ATCAY_ENST00000600960.1_Missense_Mutation_p.A330V	p.A330V	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	10	1456	+		Hepatocellular(1079;0.137)	330					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.989C>T	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992709	0.54041	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.38560	1.16;1.16;1.13	4.75	4.75	0.60458	.	0.180274	0.48286	D	0.000190	T	0.35682	0.0940	L	0.29908	0.895	0.45822	D	0.998699	B;B;B	0.25351	0.124;0.095;0.058	B;B;B	0.27796	0.055;0.083;0.038	T	0.20874	-1.0262	10	0.51188	T	0.08	.	17.0755	0.86585	0.0:1.0:0.0:0.0	.	336;330;330	B4DS11;Q86WG3-3;Q86WG3	.;.;ATCAY_HUMAN	V	330;330;330;336;308	ENSP00000390941:A330V;ENSP00000301260:A330V;ENSP00000381466:A336V	ENSP00000301260:A330V	A	+	2	0	ATCAY	3868763	1.000000	0.71417	0.992000	0.48379	0.627000	0.37826	3.283000	0.51701	2.352000	0.79861	0.313000	0.20887	GCC		0.522	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			51	295	0	0	0	1	0	51	295					T	3917763	C	T	3917763	3	4	79	1	0	0	0	0	1	0	0	0	1078	739	26	2	1023	2	ATCAY	19	3917763	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6914	3917763	55211220	18375	28692											
ITGB1BP3	27231	broad.mit.edu	37	chr19	3942256	3942256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaggcctgcagcgtcccaGcaggacagcatgtgagcgtt	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3942256G>A	ENST00000168977.2	+	8	968	c.678G>A	c.(676-678)caG>caA	p.Q226Q	NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Silent_p.Q231Q	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	226					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										CAGCGTCCCAGCAGGACAGCA	0.687																																						ENST00000168977.2																			0											c.(676-678)caG>caA		nicotinamide riboside kinase 2							18	18	18					19																	3942256		2198	4297	6495	SO:0001819	synonymous_variant	27231							g.chr19:3942256G>A	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"muscle-specific beta 1 integrin binding protein", "nicotinamide riboside kinase 2"	608705	"integrin beta 1 binding protein 3"	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.678G>A	19.37:g.3942256G>A						NMRK2_ENST00000599576.1_3'UTR|NMRK2_ENST00000593949.1_Silent_p.Q231Q	p.Q226Q	NM_170678.2	NP_733778.1					8	968	+								B7ZKR3|Q52M81|Q9NZK3	Silent	SNP	ENST00000168977.2	37	c.678G>A	CCDS12115.1																																																																																				0.687	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1	NM_014446, NM_170678		12	96	0	0	0	1	0	12	96					A	3942256	G	A	3942256	2	1	79	1	0	0	0	0	0	0	0	1	7923	962	34	2		2	ITGB1BP3	19	3942256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24493	3942256	55186727	18376	28693											
EEF2	1938	broad.mit.edu	37	chr19	3977529	3977529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatctggccccctccgCggtggatggcgtcggcgtgc	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3977529C>T	ENST00000309311.6	-	13	2235	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	716					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)		GCCCCCTCCGCGGTGGATGGC	0.672																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(2146-2148)cGc>cAc		eukaryotic translation elongation factor 2							63	60	61					19																	3977529		2197	4299	6496	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3977529C>T	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.2147G>A	19.37:g.3977529C>T	ENSP00000307940:p.Arg716His						p.R716H	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		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)	13	2235	-		Hepatocellular(1079;0.137)	716					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.2147G>A	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252365	0.80135	.	.	ENSG00000167658	ENST00000309311	T	0.37752	1.18	5.51	5.51	0.81932	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);	0.055071	0.64402	D	0.000002	T	0.77738	0.4175	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87499	0.2432	10	0.87932	D	0	-22.9049	17.9738	0.89121	0.0:1.0:0.0:0.0	.	716	P13639	EF2_HUMAN	H	716	ENSP00000307940:R716H	ENSP00000307940:R716H	R	-	2	0	EEF2	3928529	1.000000	0.71417	0.914000	0.36105	0.082000	0.17680	7.670000	0.83925	2.585000	0.87301	0.556000	0.70494	CGC		0.672	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		20	64	0	0	0	1	0	20	64					T	3977529	C	T	3977529	3	4	79	1	0	0	0	0	1	0	0	0	4945	768	27	1	441	1	EEF2	19	3977529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35273	3977529	55151454	18377	28694											
EEF2	1938	broad.mit.edu	37	chr19	3981965	3981965	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagatggggtccaggaTcagctggcagaaggtgcgtg	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3981965T>C	ENST00000309311.6	-	6	965	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	293	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)		GGGTCCAGGATCAGCTGGCAG	0.647																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(877-879)Atc>Gtc		eukaryotic translation elongation factor 2							123	118	120					19																	3981965		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3981965T>C	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.877A>G	19.37:g.3981965T>C	ENSP00000307940:p.Ile293Val						p.I293V	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		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)	6	965	-		Hepatocellular(1079;0.137)	293					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.877A>G	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	T	6.539	0.467734	0.12402	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.76448	-1.02	6.06	6.06	0.98353	Protein synthesis factor, GTP-binding (1);	0.056752	0.85682	D	0.000000	T	0.53045	0.1772	N	0.03903	-0.33	0.48830	D	0.999717	B	0.02656	0.0	B	0.06405	0.002	T	0.53613	-0.8414	10	0.13470	T	0.59	-61.7397	10.1469	0.42769	0.0:0.0737:0.0:0.9263	.	293	P13639	EF2_HUMAN	V	293	ENSP00000307940:I293V	ENSP00000307940:I293V	I	-	1	0	EEF2	3932965	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.109000	0.57824	2.319000	0.78375	0.533000	0.62120	ATC		0.647	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		147	664	0	0	0	1	0	147	664					C	3981965	T	C	3981965	3	2	79	1	0	0	0	0	1	0	0	0	4945	1435	50	4	1739	4	EEF2	19	3981965	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4436	3981965	55147018	18378	28695											
PIAS4	51588	broad.mit.edu	37	chr19	4028840	4028840	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtcacctgggggaactaCggcaaggtgagtgcgtgccc	15	11	1	1	rs148838008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4028840C>T	ENST00000262971.2	+	6	910	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	265	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAACTACGGCAAGGTGA	0.687																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(793-795)taC>taT		protein inhibitor of activated STAT, 4		C		0,4406		0,0,2203	90	79	82		795	-4.4	1	19	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIAS4	NM_015897.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		265/511	4028840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4028840C>T	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.795C>T	19.37:g.4028840C>T							p.Y265Y	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	6	910	+			265			PINIT.		O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	c.795C>T	CCDS12118.1																																																																																				0.687	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		49	266	0	0	0	1	0	49	266					T	4028840	C	T	4028840	2	4	79	1	0	0	0	0	0	0	0	1	11920	547	19	1		1	PIAS4	19	4028840	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46875	4028840	55100143	18379	28696											
PIAS4	51588	broad.mit.edu	37	chr19	4033503	4033503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtcttctacctgcagaTgaacgagaagaagcccacct	9	14	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4033503T>C	ENST00000262971.2	+	9	1182	c.1067T>C	c.(1066-1068)aTg>aCg	p.M356T		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	356					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCTGCAGATGAACGAGAAG	0.677																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1066-1068)aTg>aCg		protein inhibitor of activated STAT, 4							42	37	39					19																	4033503		2194	4298	6492	SO:0001583	missense	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4033503T>C	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1067T>C	19.37:g.4033503T>C	ENSP00000262971:p.Met356Thr						p.M356T	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1182	+			356					O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	ENST00000262971.2	37	c.1067T>C	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928367	0.73327	.	.	ENSG00000105229	ENST00000262971	T	0.16073	2.37	4.21	4.21	0.49690	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	L	0.58969	1.84	0.80722	D	1	D	0.55172	0.97	P	0.62813	0.907	T	0.09207	-1.0685	10	0.87932	D	0	-46.3971	12.4927	0.55909	0.0:0.0:0.0:1.0	.	356	Q8N2W9	PIAS4_HUMAN	T	356	ENSP00000262971:M356T	ENSP00000262971:M356T	M	+	2	0	PIAS4	3984503	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.952000	0.87827	1.547000	0.49401	0.459000	0.35465	ATG		0.677	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		15	55	0	0	0	1	0	15	55					C	4033503	T	C	4033503	3	2	79	1	0	0	0	0	1	0	0	0	11920	1464	51	4	1101	4	PIAS4	19	4033503	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4663	4033503	55095480	18380	28697											
PIAS4	51588	broad.mit.edu	37	chr19	4037768	4037768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagctcatcgtcctcGgaggatgaggaggaggagga	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4037768G>A	ENST00000262971.2	+	11	1543	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	476	Asp/Glu-rich (acidic).				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTCCTCggaggatgagg	0.701																																						ENST00000262971.2																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.(1426-1428)tcG>tcA		protein inhibitor of activated STAT, 4							17	16	16					19																	4037768		2188	4284	6472	SO:0001819	synonymous_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4037768G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1428G>A	19.37:g.4037768G>A							p.S476S	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1543	+			476			Asp/Glu-rich (acidic).		O75926|Q96G19|Q9UN16	Silent	SNP	ENST00000262971.2	37	c.1428G>A	CCDS12118.1																																																																																				0.701	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897		19	73	0	0	0	1	0	19	73					A	4037768	G	A	4037768	2	1	79	1	0	0	0	0	0	0	0	1	11920	1103	39	1		1	PIAS4	19	4037768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4265	4037768	55091215	18381	28698											
MAP2K2	5605	broad.mit.edu	37	chr19	4099233	4099233	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggggggcctcggccgaggCgagatgctgtgaggctctcc	18	13	1	2	rs368405565		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4099233C>T	ENST00000262948.5	-	7	1138	c.885G>A	c.(883-885)tcG>tcA	p.S295S	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Silent_p.S198S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	295	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|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)|insulin receptor signaling pathway (GO:0008286)|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)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|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)|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)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|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)|scaffold protein binding (GO:0097110)						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)	Bosutinib(DB06616)|Trametinib(DB08911)	TCGGCCGAGGCGAGATGCTGT	0.706																																						ENST00000262948.5																			0											c.(883-885)tcG>tcA		mitogen-activated protein kinase kinase 2		C		1,4375		0,1,2187	13	15	14		885	-8.9	0.6	19		14	0,8582		0,0,4291	no	coding-synonymous	MAP2K2	NM_030662.3		0,1,6478	TT,TC,CC		0.0,0.0229,0.0077		295/401	4099233	1,12957	2188	4291	6479	SO:0001819	synonymous_variant	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4099233C>T	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.885G>A	19.37:g.4099233C>T						MAP2K2_ENST00000394867.4_Silent_p.S198S	p.S295S	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1138	-		Hepatocellular(1079;0.137)	295			Pro-rich.|Protein kinase.			Silent	SNP	ENST00000262948.5	37	c.885G>A	CCDS12120.1																																																																																				0.706	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			18	51	0	0	0	1	0	18	51					T	4099233	C	T	4099233	2	4	79	1	0	0	0	0	0	0	0	1	9278	755	27	1		1	MAP2K2	19	4099233	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61465	4099233	55029750	18382	28699											
CREB3L3	84699	broad.mit.edu	37	chr19	4153764	4153764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgaatacggatttagctgCtggaaaggtgagccctacta	11	8	0	2	rs199572730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4153764C>T	ENST00000078445.2	+	1	167	c.20C>T	c.(19-21)gCt>gTt	p.A7V	CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	7					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GATTTAGCTGCTGGAAAGGTG	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16129	0.0		0.0	False		,,,				2504	0.0					ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(19-21)gCt>gTt		cAMP responsive element binding protein 3-like 3		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	115	88	97		20	2.2	0	19		97	0,8600		0,0,4300	no	missense	CREB3L3	NM_032607.1	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	7/462	4153764	1,13005	2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4153764C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"basic leucine zipper proteins"	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.20C>T	19.37:g.4153764C>T	ENSP00000078445:p.Ala7Val					CREB3L3_ENST00000252587.3_5'UTR|CREB3L3_ENST00000595923.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602257.1_Missense_Mutation_p.A7V|CREB3L3_ENST00000602147.1_Missense_Mutation_p.A7V	p.A7V	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	1	167	+			7					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.20C>T	CCDS12121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.81	2.048461	0.36181	2.27E-4	0.0	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.83591	-1.74	4.51	2.21	0.28008	.	1.054720	0.07391	N	0.889091	T	0.75781	0.3896	L	0.44542	1.39	0.21762	N	0.99955	B	0.17038	0.02	B	0.12156	0.007	T	0.58267	-0.7666	10	0.29301	T	0.29	-16.9793	6.8451	0.23984	0.0:0.7632:0.0:0.2368	.	7	Q68CJ9	CR3L3_HUMAN	V	7	ENSP00000078445:A7V	ENSP00000078445:A7V	A	+	2	0	CREB3L3	4104764	0.000000	0.05858	0.007000	0.13788	0.131000	0.20780	0.083000	0.14871	0.380000	0.24823	0.485000	0.47835	GCT		0.612	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		21	147	0	0	0	1	0	21	147					T	4153764	C	T	4153764	3	4	79	1	0	0	0	0	1	0	0	0	3867	797	28	2	22	2	CREB3L3	19	4153764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54531	4153764	54975219	18383	28700											
ANKRD24	170961	broad.mit.edu	37	chr19	4199913	4199913	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgagaggctgctacaagcCgtggaaaacaacgatgcacc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4199913C>T	ENST00000600132.1	+	4	441	c.165C>T	c.(163-165)gcC>gcT	p.A55A	ANKRD24_ENST00000318934.4_Silent_p.A55A|ANKRD24_ENST00000262970.5_Silent_p.A145A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	55										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)		TGCTACAAGCCGTGGAAAACA	0.667																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(163-165)gcC>gcT		ankyrin repeat domain 24							16	21	20					19																	4199913		2067	4179	6246	SO:0001819	synonymous_variant	170961							g.chr19:4199913C>T	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.165C>T	19.37:g.4199913C>T						ANKRD24_ENST00000318934.4_Silent_p.A55A|ANKRD24_ENST00000262970.5_Silent_p.A145A	p.A55A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	4	441	+			55					O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.165C>T	CCDS45925.1																																																																																				0.667	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		7	29	0	0	0	1	0	7	29					T	4199913	C	T	4199913	2	4	79	1	0	0	0	0	0	0	0	1	653	639	23	1		1	ANKRD24	19	4199913	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46149	4199913	54929070	18384	28701											
ANKRD24	170961	broad.mit.edu	37	chr19	4202024	4202024	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcttctttccttccccaggTtacaatgccctccacctggc	5	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	ENST00000600132.1	+	6	621	c.345T>C	c.(343-345)ggT>ggC	p.G115G	ANKRD24_ENST00000318934.4_Splice_Site_p.G115G|ANKRD24_ENST00000262970.5_Splice_Site_p.G205G	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	115										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)		CTTCCCCAGGTTACAATGCCC	0.512																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.e6-1		ankyrin repeat domain 24							92	86	88					19																	4202024		1914	4117	6031	SO:0001630	splice_region_variant	170961							g.chr19:4202024T>C	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.344-1T>C	19.37:g.4202024T>C						ANKRD24_ENST00000318934.4_Splice_Site_p.G115_splice|ANKRD24_ENST00000262970.5_Splice_Site_p.G205_splice	p.G115_splice	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	6	621	+			115					O75268|O95781	Splice_Site	SNP	ENST00000600132.1	37	c.343_splice	CCDS45925.1																																																																																				0.512	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	Silent	47	391	0	0	0	1	0	47	391					C	4202024	T	C	4202024	5	2	79	1	0	0	0	0	0	0	1	0	653	1739	60	4	363	4	ANKRD24	19	4202024	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2111	4202024	54926959	18385	28702											
ANKRD24	170961	broad.mit.edu	37	chr19	4216663	4216663	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttgaccagctacgcaggcaGcacgctgaggccctgcaggc	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4216663G>T	ENST00000600132.1	+	18	1782	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	502										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)		TACGCAGGCAGCACGCTGAGG	0.622																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(1504-1506)caG>caT		ankyrin repeat domain 24							26	27	27					19																	4216663		2032	4177	6209	SO:0001583	missense	170961							g.chr19:4216663G>T	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.1506G>T	19.37:g.4216663G>T	ENSP00000471252:p.Gln502His					ANKRD24_ENST00000318934.4_Missense_Mutation_p.Q502H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.Q592H	p.Q502H	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	1782	+			502					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.1506G>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.944226	0.53079	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.38560	1.13;1.16	4.6	2.39	0.29439	.	0.549841	0.13688	N	0.369707	T	0.36744	0.0978	L	0.27053	0.805	0.27072	N	0.963292	D;B	0.56968	0.978;0.392	P;B	0.52267	0.694;0.091	T	0.13845	-1.0494	10	0.27082	T	0.32	-15.3871	8.5402	0.33388	0.1894:0.0:0.8106:0.0	.	502;592	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	H	502;592	ENSP00000321731:Q502H;ENSP00000262970:Q592H	ENSP00000262970:Q592H	Q	+	3	2	ANKRD24	4167663	0.998000	0.40836	0.967000	0.41034	0.887000	0.51463	1.040000	0.30278	0.471000	0.27319	0.313000	0.20887	CAG		0.622	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		11	51	1	0	2.27111e-07	1	2.35674e-07	11	51					T	4216663	G	T	4216663	3	4	79	1	0	0	0	0	1	0	0	0	653	962	34	3	1572	3	ANKRD24	19	4216663	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14639	4216663	54912320	18386	28703											
SHD	56961	broad.mit.edu	37	chr19	4283065	4283065	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctagaacttcccggcagaGgggtgcagctctatgacacc	11	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4283065G>T	ENST00000543264.2	+	3	1881	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W	SHD_ENST00000599689.1_Missense_Mutation_p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGGCAGAGGGGTGCAGCT	0.617																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(418-420)Ggg>Tgg		Src homology 2 domain containing transforming protein D							47	47	47					19																	4283065		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4283065G>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.418G>T	19.37:g.4283065G>T	ENSP00000446058:p.Gly140Trp					SHD_ENST00000599689.1_Missense_Mutation_p.G140W	p.G140W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1881	+			140					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.418G>T	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833978	0.50951	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.30714	1.52	4.63	1.06	0.20224	.	0.875466	0.09879	N	0.743981	T	0.33818	0.0876	L	0.40543	1.245	0.09310	N	1	P;P	0.39883	0.693;0.669	P;P	0.48270	0.572;0.572	T	0.32134	-0.9918	10	0.87932	D	0	-5.7012	8.3173	0.32108	0.2958:0.0:0.7042:0.0	.	54;140	Q9NPN8;Q96IW2	.;SHD_HUMAN	W	140;55	ENSP00000446058:G140W	ENSP00000221852:G55W	G	+	1	0	SHD	4234065	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.356000	0.20181	0.189000	0.20188	0.448000	0.29417	GGG		0.617	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		24	232	1	0	1.64293e-13	1	1.77503e-13	24	232					T	4283065	G	T	4283065	3	4	79	1	0	0	0	0	1	0	0	0	14325	1000	35	3	428	3	SHD	19	4283065	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66402	4283065	54845918	18387	28704											
TMIGD2	126259	broad.mit.edu	37	chr19	4292780	4292780	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgggaaggaggttgaaTaaatgctctggcccctctgg	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4292780T>C	ENST00000301272.2	-	5	710	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C|TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	222					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTTGAATAAATGCTCTG	0.672																																						ENST00000301272.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(664-666)tAt>tGt		transmembrane and immunoglobulin domain containing 2							36	42	40					19																	4292780		2203	4300	6503	SO:0001583	missense	126259					integral to membrane		g.chr19:4292780T>C	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.665A>G	19.37:g.4292780T>C	ENSP00000301272:p.Tyr222Cys					TMIGD2_ENST00000600114.1_Missense_Mutation_p.Y102C|TMIGD2_ENST00000600349.1_Missense_Mutation_p.Y50C|TMIGD2_ENST00000595645.1_Missense_Mutation_p.Y218C	p.Y222C	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	710	-			222					Q6UW59	Missense_Mutation	SNP	ENST00000301272.2	37	c.665A>G	CCDS12126.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956511	0.34565	.	.	ENSG00000167664	ENST00000301272	T	0.55588	0.51	3.04	0.695	0.18070	.	.	.	.	.	T	0.55321	0.1913	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.94	T	0.45175	-0.9279	9	0.66056	D	0.02	.	7.3198	0.26521	0.0:0.0:0.4456:0.5544	.	218;222	Q96BF3-2;Q96BF3	.;TMIG2_HUMAN	C	222	ENSP00000301272:Y222C	ENSP00000301272:Y222C	Y	-	2	0	TMIGD2	4243780	0.699000	0.27786	0.000000	0.03702	0.076000	0.17211	1.622000	0.36997	-0.039000	0.13602	0.454000	0.30748	TAT		0.672	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		9	417	0	0	0	1	0	9	417					C	4292780	T	C	4292780	3	2	79	1	0	0	0	0	1	0	0	0	16283	1406	49	4	187	4	TMIGD2	19	4292780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9715	4292780	54836203	18388	28705											
STAP2	55620	broad.mit.edu	37	chr19	4325511	4325511	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctagacgcaggtgacagCggcttggggccacctgtgca	16	11	0	2	rs145032917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4325511C>T	ENST00000594605.1	-	10	984	c.861G>A	c.(859-861)ccG>ccA	p.P287P	STAP2_ENST00000600324.1_Silent_p.P287P|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	287	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTGACAGCGGCTTGGGGC	0.622													c|||	1	0.000199681	0.0	0.0014	5008	,	,		15876	0.0		0.0	False		,,,				2504	0.0					ENST00000600324.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23						c.(859-861)ccG>ccA		signal transducing adaptor family member 2							78	85	83					19																	4325511		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4325511C>T	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.861G>A	19.37:g.4325511C>T						STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Silent_p.P287P	p.P287P	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	10	928	-		Hepatocellular(1079;0.137)	287			Pro-rich.		A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.861G>A	CCDS45926.1																																																																																				0.622	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		16	744	0	0	0	1	0	16	744					T	4325511	C	T	4325511	2	4	79	1	0	0	0	0	0	0	0	1	15305	755	27	1		1	STAP2	19	4325511	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32731	4325511	54803472	18389	28706											
SH3GL1	6455	broad.mit.edu	37	chr19	4400336	4400336	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcacctggctcgccttgtaGaactgcttcttcagccccgc	8	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4400336G>A	ENST00000269886.3	-	1	208	c.30C>T	c.(28-30)ttC>ttT	p.F10F	SH3GL1_ENST00000417295.2_Silent_p.F10F|SH3GL1_ENST00000598564.1_Silent_p.F10F|CHAF1A_ENST00000301280.5_5'Flank	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	10	Membrane-binding amphipathic helix. {ECO:0000250}.				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)		TCGCCTTGTAGAACTGCTTCT	0.771			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(28-30)ttC>ttT		SH3-domain GRB2-like 1							10	12	11					19																	4400336		2131	4172	6303	SO:0001819	synonymous_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4400336G>A		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.30C>T	19.37:g.4400336G>A						SH3GL1_ENST00000417295.2_Silent_p.F10F|SH3GL1_ENST00000598564.1_Silent_p.F10F	p.F10F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	1	208	-			10			Membrane-binding amphipathic helix (By similarity).		B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	c.30C>T	CCDS32874.1																																																																																				0.771	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		19	180	0	0	0	1	0	19	180					A	4400336	G	A	4400336	2	1	79	1	0	0	0	0	0	0	0	1	14300	933	33	2		2	SH3GL1	19	4400336	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74825	4400336	54728647	18390	28707											
CHAF1A	10036	broad.mit.edu	37	chr19	4409479	4409479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggacagttggagtgaagCtgggggcatcctgttcaaag	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4409479C>T	ENST00000301280.5	+	3	784	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	228	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTGAAGCTGGGGGCATC	0.592								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(682-684)gCt>gTt	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							93	101	98					19																	4409479		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409479C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.683C>T	19.37:g.4409479C>T	ENSP00000301280:p.Ala228Val						p.A228V	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	3	784	+		Hepatocellular(1079;0.137)	228			Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.683C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355976	0.41700	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.57273	0.41	5.78	4.55	0.56014	.	.	.	.	.	T	0.41789	0.1174	L	0.34521	1.04	0.09310	N	1	P	0.36753	0.568	B	0.36608	0.229	T	0.38001	-0.9681	9	0.87932	D	0	-33.0748	8.718	0.34423	0.0:0.8566:0.0:0.1434	.	228	Q13111	CAF1A_HUMAN	V	228	ENSP00000301280:A228V	ENSP00000301280:A228V	A	+	2	0	CHAF1A	4360479	0.785000	0.28726	0.149000	0.22428	0.362000	0.29581	2.147000	0.42226	2.721000	0.93114	0.561000	0.74099	GCT		0.592	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		51	265	0	0	0	1	0	51	265					T	4409479	C	T	4409479	3	4	79	1	0	0	0	0	1	0	0	0	3320	797	28	2	693	2	CHAF1A	19	4409479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9143	4409479	54719504	18391	28708											
CHAF1A	10036	broad.mit.edu	37	chr19	4429469	4429469	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcgtgggaagggcgacGgtgttcccgagaggaggaag	21	6	0	1	rs201513692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4429469G>A	ENST00000301280.5	+	9	1740	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	547					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCGACGGTGTTCCCGA	0.572								Chromatin Structure					G|||	1	0.000199681	0.0008	0.0	5008	,	,		18403	0.0		0.0	False		,,,				2504	0.0					ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1639-1641)Ggt>Agt	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	SER/GLY	0,4406		0,0,2203	106	94	98		1639	1.5	0	19		98	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	56	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	547/957	4429469	4,13002	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4429469G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1639G>A	19.37:g.4429469G>A	ENSP00000301280:p.Gly547Ser						p.G547S	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1740	+		Hepatocellular(1079;0.137)	547					Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1639G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	9.240	1.038125	0.19669	0.0	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.14144	2.53	5.14	1.49	0.22878	.	.	.	.	.	T	0.10594	0.0259	L	0.55481	1.735	0.09310	N	0.999996	P	0.41475	0.751	B	0.26094	0.066	T	0.16988	-1.0384	9	0.87932	D	0	-17.0114	8.1559	0.31169	0.2988:0.0:0.7012:0.0	.	547	Q13111	CAF1A_HUMAN	S	547	ENSP00000301280:G547S	ENSP00000301280:G547S	G	+	1	0	CHAF1A	4380469	0.116000	0.22171	0.004000	0.12327	0.000000	0.00434	1.660000	0.37397	0.386000	0.24997	-0.237000	0.12165	GGT		0.572	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		59	323	0	0	0	1	0	59	323					A	4429469	G	A	4429469	3	1	79	1	0	0	0	0	1	0	0	0	3320	1116	39	1	1673	1	CHAF1A	19	4429469	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19990	4429469	54699514	18392	28709											
CHAF1A	10036	broad.mit.edu	37	chr19	4432089	4432089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcggctgacagagactgCgcaggcgatgacctgaaggt	17	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432089C>T	ENST00000301280.5	+	12	2189	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	696	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGACTGCGCAGGCGATG	0.637								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2086-2088)tgC>tgT	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							78	68	72					19																	4432089		2203	4300	6503	SO:0001819	synonymous_variant	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4432089C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2088C>T	19.37:g.4432089C>T						CHAF1A_ENST00000587368.1_3'UTR	p.C696C	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2189	+		Hepatocellular(1079;0.137)	696			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	c.2088C>T	CCDS32875.1																																																																																				0.637	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		102	380	0	0	0	1	0	102	380					T	4432089	C	T	4432089	2	4	79	1	0	0	0	0	0	0	0	1	3320	776	27	1		1	CHAF1A	19	4432089	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2620	4432089	54696894	18393	28710											
CHAF1A	10036	broad.mit.edu	37	chr19	4432123	4432123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtactgcagcagttcGcagcctgcttcctggagacc	12	12	0	2	rs45499793	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432123G>A	ENST00000301280.5	+	12	2223	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	708	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAGTTCGCAGCCTGCTT	0.657								Chromatin Structure					G|||	3	0.000599042	0.0	0.0014	5008	,	,		17934	0.0		0.001	False		,,,				2504	0.001					ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2122-2124)Gca>Aca	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	52	46	48		2122	-9.7	0	19	dbSNP_127	48	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CHAF1A	NM_005483.2	58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	708/957	4432123	5,13001	2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4432123G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2122G>A	19.37:g.4432123G>A	ENSP00000301280:p.Ala708Thr					CHAF1A_ENST00000587368.1_3'UTR	p.A708T	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2223	+		Hepatocellular(1079;0.137)	708			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2122G>A	CCDS32875.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.829	0.154086	0.09185	2.27E-4	4.65E-4	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.25250	1.81	4.84	-9.69	0.00524	.	.	.	.	.	T	0.05640	0.0148	N	0.04203	-0.255	0.09310	N	1	P	0.41008	0.735	B	0.20184	0.028	T	0.39663	-0.9603	9	0.87932	D	0	-1.689	2.3987	0.04396	0.2251:0.1073:0.4111:0.2565	rs45499793	708	Q13111	CAF1A_HUMAN	T	708	ENSP00000301280:A708T	ENSP00000301280:A708T	A	+	1	0	CHAF1A	4383123	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-0.241000	0.08940	-2.159000	0.00787	-0.857000	0.03018	GCA		0.657	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		29	289	0	0	0	1	0	29	289					A	4432123	G	A	4432123	3	1	79	1	0	0	0	0	1	0	0	0	3320	1087	38	1	2168	1	CHAF1A	19	4432123	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34	4432123	54696860	18394	28711											
CHAF1A	10036	broad.mit.edu	37	chr19	4433183	4433183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaccacaccggcagcccgCggagcccctccaccacctac	8	22	0	0	rs529604161	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4433183C>T	ENST00000301280.5	+	13	2421	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CHAF1A_ENST00000587368.1_3'UTR|CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	774	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCCCGCGGAGCCCCTC	0.662								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2320-2322)Cgg>Tgg	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							43	49	47					19																	4433183		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4433183C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2320C>T	19.37:g.4433183C>T	ENSP00000301280:p.Arg774Trp					CHAF1A_ENST00000587368.1_3'UTR	p.R774W	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2421	+		Hepatocellular(1079;0.137)	774			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2320C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	7.873	0.728653	0.15507	.	.	ENSG00000167670	ENST00000301280	T	0.30714	1.52	5.33	1.88	0.25563	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	B	0.35413	0.202	T	0.08391	-1.0724	8	.	.	.	-4.6503	9.9541	0.41655	0.1352:0.5331:0.3317:0.0	.	774	Q13111	CAF1A_HUMAN	W	774	ENSP00000301280:R774W	.	R	+	1	2	CHAF1A	4384183	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	0.106000	0.15354	1.223000	0.43536	0.655000	0.94253	CGG		0.662	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		109	401	0	0	0	1	0	109	401					T	4433183	C	T	4433183	3	4	79	1	0	0	0	0	1	0	0	0	3320	759	27	1	2370	1	CHAF1A	19	4433183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1060	4433183	54695800	18395	28712											
UBXN6	80700	broad.mit.edu	37	chr19	4454072	4454072	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggggctggctggttgggcttCtctttgtgggccttttccct	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4454072C>A	ENST00000301281.6	-	2	226	c.102G>T	c.(100-102)gaG>gaT	p.E34D	UBXN6_ENST00000394765.3_5'UTR|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	34						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGTTGGGCTTCTCTTTGTGGG	0.647																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(100-102)gaG>gaT		UBX domain protein 6							104	120	114					19																	4454072		2203	4300	6503	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4454072C>A	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.102G>T	19.37:g.4454072C>A	ENSP00000301281:p.Glu34Asp					CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_5'UTR	p.E34D	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			2	226	-			34					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.102G>T	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	C	6.605	0.479950	0.12581	.	.	ENSG00000167671	ENST00000301281	T	0.42513	0.97	4.13	-8.12	0.01078	.	1.423740	0.04598	N	0.397999	T	0.23649	0.0572	L	0.31294	0.92	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.13470	T	0.59	-2.1917	7.2936	0.26380	0.0:0.4968:0.3083:0.1948	.	34	Q9BZV1	UBXN6_HUMAN	D	34	ENSP00000301281:E34D	ENSP00000301281:E34D	E	-	3	2	UBXN6	4405072	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-1.062000	0.03468	-1.133000	0.02903	0.484000	0.47621	GAG		0.647	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		31	1000	1	0	4.59853e-10	1	4.86106e-10	31	1000					A	4454072	C	A	4454072	3	1	79	1	0	0	0	0	1	0	0	0	16971	912	32	3	1263	3	UBXN6	19	4454072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20889	4454072	54674911	18396	28713											
UBXN6	80700	broad.mit.edu	37	chr19	4457633	4457633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacggactctttgagcttcTgaccgggtcccgcgctcttg	11	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4457633T>C	ENST00000301281.6	-	1	186	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	CTB-50L17.16_ENST00000591414.1_lincRNA|UBXN6_ENST00000394765.3_5'Flank|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	21						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGAGCTTCTGACCGGGTCC	0.692																																						ENST00000301281.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(61-63)cAg>cGg		UBX domain protein 6							35	31	33					19																	4457633		2201	4297	6498	SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4457633T>C	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.62A>G	19.37:g.4457633T>C	ENSP00000301281:p.Gln21Arg						p.Q21R	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN			1	186	-			21					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	ENST00000301281.6	37	c.62A>G	CCDS12129.1	.	.	.	.	.	.	.	.	.	.	T	8.264	0.811888	0.16537	.	.	ENSG00000167671	ENST00000301281	T	0.42900	0.96	4.03	4.03	0.46877	.	0.410430	0.26612	U	0.023407	T	0.26159	0.0638	L	0.33137	0.985	0.80722	D	1	B	0.24823	0.112	B	0.25140	0.058	T	0.04333	-1.0959	10	0.07482	T	0.82	-14.4097	7.6137	0.28145	0.1898:0.0:0.0:0.8102	.	21	Q9BZV1	UBXN6_HUMAN	R	21	ENSP00000301281:Q21R	ENSP00000301281:Q21R	Q	-	2	0	UBXN6	4408633	1.000000	0.71417	0.991000	0.47740	0.880000	0.50808	5.039000	0.64185	1.448000	0.47680	0.477000	0.44152	CAG		0.692	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	NM_025241		15	126	0	0	0	1	0	15	126					C	4457633	T	C	4457633	3	2	79	1	0	0	0	0	1	0	0	0	16971	1580	55	4	1307	4	UBXN6	19	4457633	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3561	4457633	54671350	18397	28714											
PLIN4	729359	broad.mit.edu	37	chr19	4510584	4510584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccccgtgtcctccctgcCtggggcggccccttgggtga	14	16	0	1	rs371086662		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510584C>A	ENST00000301286.3	-	3	3345	c.3346G>T	c.(3346-3348)Ggc>Tgc	p.G1116C		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1116						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						TCCTCCCTGCCTGGGGCGGCC	0.657																																						ENST00000301286.3																			0				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						c.(3346-3348)Ggc>Tgc		perilipin 4							31	36	34					19																	4510584		2133	4232	6365	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4510584C>A	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.3346G>T	19.37:g.4510584C>A	ENSP00000301286:p.Gly1116Cys						p.G1116C	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	3345	-			1116					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.3346G>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817730	0.32145	.	.	ENSG00000167676	ENST00000301286	T	0.04706	3.57	3.85	-0.00379	0.14024	.	1.488490	0.04874	N	0.446490	T	0.09730	0.0239	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.34976	-0.9807	10	0.72032	D	0.01	-5.4226	5.6695	0.17715	0.4127:0.401:0.1863:0.0	.	1116	Q96Q06	PLIN4_HUMAN	C	1116	ENSP00000301286:G1116C	ENSP00000301286:G1116C	G	-	1	0	PLIN4	4461584	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.248000	0.18198	0.117000	0.18138	-0.295000	0.09555	GGC		0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		22	92	1	0	1.96292e-10	1	2.08093e-10	22	92					A	4510584	C	A	4510584	3	1	79	1	0	0	0	0	1	0	0	0	12134	681	24	3	743	3	PLIN4	19	4510584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52951	4510584	54618399	18398	28715											
PLIN4	729359	broad.mit.edu	37	chr19	4510724	4510724	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaacggggcctcttgggggCtcagggcagtctgctcccca	15	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510724C>A	ENST00000301286.3	-	3	3205	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1069						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						CTCTTGGGGGCTCAGGGCAGT	0.642																																						ENST00000301286.3																			0				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						c.(3205-3207)aGc>aTc		perilipin 4							30	36	34					19																	4510724		2069	4199	6268	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4510724C>A	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.3206G>T	19.37:g.4510724C>A	ENSP00000301286:p.Ser1069Ile						p.S1069I	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	3205	-			1069					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.3206G>T	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	c	10.04	1.242739	0.22796	.	.	ENSG00000167676	ENST00000301286	T	0.03689	3.84	2.87	-5.75	0.02384	.	3.138250	0.01171	U	0.006873	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	P	0.35656	0.514	B	0.31016	0.123	T	0.33214	-0.9877	10	0.40728	T	0.16	-0.9643	1.0287	0.01533	0.145:0.1954:0.3066:0.353	.	1069	Q96Q06	PLIN4_HUMAN	I	1069	ENSP00000301286:S1069I	ENSP00000301286:S1069I	S	-	2	0	PLIN4	4461724	.	.	0.000000	0.03702	0.108000	0.19459	.	.	-1.121000	0.02949	0.424000	0.28305	AGC		0.642	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		13	191	1	0	0.00010058	1	0.000102273	13	191					A	4510724	C	A	4510724	3	1	79	1	0	0	0	0	1	0	0	0	12134	797	28	3	883	3	PLIN4	19	4510724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	4510724	54618259	18399	28716											
PLIN5	440503	broad.mit.edu	37	chr19	4523771	4523771	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccgccaggtcgggcaggggCtcgggtcgctccacaaggat	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4523771C>A	ENST00000381848.3	-	8	1241	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	387	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCAGGGGCTCGGGTCGCT	0.741																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1159-1161)gaG>gaT		perilipin 5							19	24	22					19																	4523771		2072	4154	6226	SO:0001583	missense	440503					lipid particle		g.chr19:4523771C>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1161G>T	19.37:g.4523771C>A	ENSP00000371272:p.Glu387Asp						p.E387D	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			8	1241	-			387					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1161G>T	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	4.341	0.062678	0.08388	.	.	ENSG00000214456	ENST00000381848	T	0.13089	2.62	4.62	-2.16	0.07080	.	2.270970	0.03127	U	0.164645	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.28902	-1.0029	10	0.18710	T	0.47	-8.503	1.0071	0.01489	0.1753:0.3071:0.3045:0.213	.	387	Q00G26	PLIN5_HUMAN	D	387	ENSP00000371272:E387D	ENSP00000371272:E387D	E	-	3	2	PLIN5	4474771	0.005000	0.15991	0.085000	0.20634	0.005000	0.04900	-0.067000	0.11579	0.030000	0.15379	-0.350000	0.07774	GAG		0.741	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		84	336	1	0	8.87156e-34	1	1.0529e-33	84	336					A	4523771	C	A	4523771	3	1	79	1	0	0	0	0	1	0	0	0	12135	796	28	3	234	3	PLIN5	19	4523771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13047	4523771	54605212	18400	28717											
PLIN5	440503	broad.mit.edu	37	chr19	4525690	4525690	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggtgtcctgggcacgGtgtttgctctgcctcagttt	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4525690G>A	ENST00000381848.3	-	6	755	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	225	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGGGCACGGTGTTTGCTCT	0.652																																						ENST00000381848.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(673-675)caC>caT		perilipin 5							54	66	62					19																	4525690		2132	4229	6361	SO:0001819	synonymous_variant	440503					lipid particle		g.chr19:4525690G>A	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.675C>T	19.37:g.4525690G>A							p.H225H	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN			6	755	-			225					A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	37	c.675C>T	CCDS42473.1																																																																																				0.652	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		73	316	0	0	0	1	0	73	316					A	4525690	G	A	4525690	2	1	79	1	0	0	0	0	0	0	0	1	12135	1252	44	2		2	PLIN5	19	4525690	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1919	4525690	54603293	18401	28718											
LRG1	116844	broad.mit.edu	37	chr19	4538016	4538016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcccagcacagcgcGtgtcattctgggaaaacatc	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4538016G>A	ENST00000306390.6	-	2	1440	c.980C>T	c.(979-981)aCg>aTg	p.T327M	PLIN5_ENST00000586133.1_5'Flank|LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	327	LRRCT.				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)		AGCACAGCGCGTGTCATTCTG	0.592																																						ENST00000306390.6																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(979-981)aCg>aTg		leucine-rich alpha-2-glycoprotein 1							50	47	48					19																	4538016		2203	4300	6503	SO:0001583	missense	116844					extracellular region|membrane		g.chr19:4538016G>A		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.980C>T	19.37:g.4538016G>A	ENSP00000302621:p.Thr327Met					CTB-50L17.14_ENST00000586020.1_Intron	p.T327M	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1440	-		Hepatocellular(1079;0.137)	327			LRRCT.		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	ENST00000306390.6	37	c.980C>T	CCDS12130.1	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883464	0.51908	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02446	4.29	5.15	5.15	0.70609	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41097	D	0.000958	T	0.12944	0.0314	M	0.72479	2.2	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.01675	-1.1298	10	0.49607	T	0.09	-19.7871	13.9796	0.64297	0.0:0.0:1.0:0.0	.	327	P02750	A2GL_HUMAN	M	327;310	ENSP00000302621:T327M	ENSP00000302621:T327M	T	-	2	0	LRG1	4489016	0.378000	0.25114	0.093000	0.20910	0.042000	0.13812	3.111000	0.50360	2.685000	0.91497	0.591000	0.81541	ACG		0.592	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2	NM_052972		57	291	0	0	0	1	0	57	291					A	4538016	G	A	4538016	3	1	79	1	0	0	0	0	1	0	0	0	8980	1145	40	1	67	1	LRG1	19	4538016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12326	4538016	54590967	18402	28719											
SEMA6B	10501	broad.mit.edu	37	chr19	4558383	4558383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgctaagcggcggcggctcCtcaggaaagaggccgtgggc	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4558383C>T	ENST00000586582.1	-	2	397	c.87G>A	c.(85-87)gaG>gaA	p.E29E	SEMA6B_ENST00000586965.1_Silent_p.E29E|SEMA6B_ENST00000301293.3_Silent_p.E29E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	29					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)		GCGGCGGCTCCTCAGGAAAGA	0.711											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(85-87)gaG>gaA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B																																				SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4558383C>T	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.87G>A	19.37:g.4558383C>T			OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619	SEMA6B_ENST00000586965.1_Silent_p.E29E|SEMA6B_ENST00000301293.3_Silent_p.E29E	p.E29E	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	2	397	-		Hepatocellular(1079;0.137)	29					A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.87G>A	CCDS12131.1																																																																																				0.711	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		9	32	0	0	0	1	0	9	32					T	4558383	C	T	4558383	2	4	79	1	0	0	0	0	0	0	0	1	14090	680	24	2		2	SEMA6B	19	4558383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20367	4558383	54570600	18403	28720											
DPP9	91039	broad.mit.edu	37	chr19	4690947	4690947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcagagcaatctcttcCttaatggggcacttaaattc	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4690947C>A	ENST00000598800.1	-	15	1957	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N	DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000262960.9_Missense_Mutation_p.K513N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	484						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAATCTCTTCCTTAATGGGGC	0.557																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1537-1539)aaG>aaT		dipeptidyl-peptidase 9							60	62	61					19																	4690947		1963	4154	6117	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4690947C>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1452G>T	19.37:g.4690947C>A	ENSP00000469603:p.Lys484Asn					DPP9_ENST00000594671.1_Missense_Mutation_p.K484N|DPP9_ENST00000598800.1_Missense_Mutation_p.K484N	p.K513N	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	14	1816	-		Hepatocellular(1079;0.137)	484					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.1539G>T		.	.	.	.	.	.	.	.	.	.	C	6.528	0.465689	0.12402	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30448	1.53	4.39	2.15	0.27550	.	0.166608	0.51477	D	0.000082	T	0.27278	0.0669	M	0.65975	2.015	0.52501	D	0.99995	B	0.20459	0.045	B	0.26614	0.071	T	0.07520	-1.0768	10	0.30078	T	0.28	-23.8297	4.6523	0.12601	0.0:0.6645:0.0:0.3355	.	513	Q1ZZB8	.	N	592;454;513	ENSP00000262960:K513N	ENSP00000262960:K513N	K	-	3	2	DPP9	4641947	0.999000	0.42202	1.000000	0.80357	0.285000	0.27093	0.716000	0.25836	1.086000	0.41228	-0.263000	0.10527	AAG		0.557	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			15	64	1	0	1.5739e-10	1	1.67034e-10	15	64					A	4690947	C	A	4690947	3	1	79	1	0	0	0	0	1	0	0	0	4749	680	24	3	1175	3	DPP9	19	4690947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132564	4690947	54438036	18404	28721											
FEM1A	55527	broad.mit.edu	37	chr19	4793050	4793050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctattacatccgttAcaggggtgccgtgtacgccg	10	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793050A>G	ENST00000269856.3	+	1	1323	c.1184A>G	c.(1183-1185)tAc>tGc	p.Y395C	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	395					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TACATCCGTTACAGGGGTGCC	0.617																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1183-1185)tAc>tGc		fem-1 homolog a (C. elegans)							50	48	49					19																	4793050		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793050A>G	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1184A>G	19.37:g.4793050A>G	ENSP00000269856:p.Tyr395Cys					AC005523.2_ENST00000601192.1_RNA	p.Y395C	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1323	+		Hepatocellular(1079;0.137)	395					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1184A>G	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163560	0.57476	.	.	ENSG00000141965	ENST00000269856	T	0.63580	-0.05	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);	0.000000	0.64402	U	0.000002	T	0.81740	0.4886	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84247	0.0475	10	0.42905	T	0.14	-24.2112	14.4967	0.67694	1.0:0.0:0.0:0.0	.	395	Q9BSK4	FEM1A_HUMAN	C	395	ENSP00000269856:Y395C	ENSP00000269856:Y395C	Y	+	2	0	FEM1A	4744050	1.000000	0.71417	0.965000	0.40720	0.538000	0.34931	9.119000	0.94362	1.824000	0.53156	0.402000	0.26972	TAC		0.617	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			104	417	0	0	0	1	0	104	417					G	4793050	A	G	4793050	3	3	79	1	0	0	0	0	1	0	0	0	5834	391	14	4	1186	4	FEM1A	19	4793050	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	102103	4793050	54335933	18405	28722											
FEM1A	55527	broad.mit.edu	37	chr19	4793649	4793649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcccagaacaactgcccgGccatcatgaatgccctgatc	8	16	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793649G>A	ENST00000269856.3	+	1	1922	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	595					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAACTGCCCGGCCATCATGAA	0.607																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1783-1785)Gcc>Acc		fem-1 homolog a (C. elegans)							60	54	56					19																	4793649		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793649G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1783G>A	19.37:g.4793649G>A	ENSP00000269856:p.Ala595Thr					AC005523.2_ENST00000601192.1_RNA	p.A595T	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1922	+		Hepatocellular(1079;0.137)	595					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1783G>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906090	0.33628	.	.	ENSG00000141965	ENST00000269856	T	0.70986	-0.53	4.92	3.85	0.44370	Ankyrin repeat-containing domain (4);	0.596241	0.16305	U	0.220273	T	0.56630	0.1998	N	0.20483	0.58	0.28969	N	0.889377	B	0.02656	0.0	B	0.10450	0.005	T	0.55573	-0.8120	10	0.49607	T	0.09	-9.6475	13.4172	0.60976	0.0:0.2677:0.7323:0.0	.	595	Q9BSK4	FEM1A_HUMAN	T	595	ENSP00000269856:A595T	ENSP00000269856:A595T	A	+	1	0	FEM1A	4744649	0.975000	0.34042	0.967000	0.41034	0.977000	0.68977	4.857000	0.62939	2.264000	0.75181	0.491000	0.48974	GCC		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			35	202	0	0	0	1	0	35	202					A	4793649	G	A	4793649	3	1	79	1	0	0	0	0	1	0	0	0	5834	1203	42	2	1785	2	FEM1A	19	4793649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	599	4793649	54335334	18406	28723											
TICAM1	148022	broad.mit.edu	37	chr19	4817507	4817507	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgggtagttggtgctggtttCtggagctgcgggggtatcag	19	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4817507C>A	ENST00000248244.5	-	2	1112	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	295	Pro-rich.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGGTTTCTGGAGCTGCG	0.637																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(883-885)Gaa>Taa		toll-like receptor adaptor molecule 1							31	37	35					19																	4817507		2203	4300	6503	SO:0001587	stop_gained	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4817507C>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.883G>T	19.37:g.4817507C>A	ENSP00000248244:p.Glu295*						p.E295*	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	1112	-			295			Pro-rich.		B3Y691|O75532|Q86XP8|Q96GA0	Nonsense_Mutation	SNP	ENST00000248244.5	37	c.883G>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278236	0.95459	.	.	ENSG00000127666	ENST00000248244	.	.	.	4.1	0.392	0.16288	.	1.162720	0.06964	U	0.816853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.3724	5.8491	0.18683	0.0:0.6612:0.1558:0.183	.	.	.	.	X	295	.	ENSP00000248244:E295X	E	-	1	0	TICAM1	4768507	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.188000	0.09642	-0.022000	0.13986	0.297000	0.19635	GAA		0.637	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		40	221	1	0	2.19358e-23	1	2.49351e-23	40	221					A	4817507	C	A	4817507	4	1	79	1	0	0	0	0	0	1	0	0	15944	922	32	3	1259	3	TICAM1	19	4817507	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23858	4817507	54311476	18407	28724											
PLIN3	10226	broad.mit.edu	37	chr19	4844705	4844705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgggcggctccttctcgGggccctggagctgcttctgg	16	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4844705G>A	ENST00000221957.4	-	7	1111	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L|PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	312					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)	CTCCTTCTCGGGGCCCTGGAG	0.597																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(934-936)cCc>cTc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						33	28	30					19																	4844705		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4844705G>A	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.935C>T	19.37:g.4844705G>A	ENSP00000221957:p.Pro312Leu					PLIN3_ENST00000585479.1_Missense_Mutation_p.P312L|PLIN3_ENST00000592528.1_Missense_Mutation_p.P300L	p.P312L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			7	1111	-			312					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.935C>T	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392630	0.25118	.	.	ENSG00000105355	ENST00000221957	T	0.05199	3.48	4.07	1.79	0.24919	.	1.707180	0.03546	U	0.224768	T	0.09335	0.0230	L	0.43152	1.355	0.09310	N	1	B;B;B	0.23249	0.028;0.082;0.035	B;B;B	0.24394	0.031;0.023;0.053	T	0.45234	-0.9275	10	0.36615	T	0.2	-25.0203	12.0524	0.53513	0.0:0.3346:0.6654:0.0	.	312;129;312	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	L	312	ENSP00000221957:P312L	ENSP00000221957:P312L	P	-	2	0	PLIN3	4795705	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.226000	0.09139	0.334000	0.23590	0.561000	0.74099	CCC		0.597	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		11	65	0	0	0	1	0	11	65					A	4844705	G	A	4844705	3	1	79	1	0	0	0	0	1	0	0	0	12133	1232	43	2	377	2	PLIN3	19	4844705	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27198	4844705	54284278	18408	28725											
PLIN3	10226	broad.mit.edu	37	chr19	4847718	4847718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccaggcttaggacctgCgacagctgcagcagagcctc	11	15	1	1	rs371698315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847718C>T	ENST00000221957.4	-	6	995	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PLIN3_ENST00000592528.1_Silent_p.S261S|PLIN3_ENST00000585479.1_Silent_p.S273S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	273					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)	TTAGGACCTGCGACAGCTGCA	0.657																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(817-819)tcG>tcA		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	C	,,	0,4396		0,0,2198	22	19	20		819,783,819	-8.8	0	19		20	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,	273/434,261/423,273/435	4847718	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4847718C>T	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.819G>A	19.37:g.4847718C>T						PLIN3_ENST00000585479.1_Silent_p.S273S|PLIN3_ENST00000592528.1_Silent_p.S261S	p.S273S	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			6	995	-			273					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	37	c.819G>A	CCDS12137.1																																																																																				0.657	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		13	57	0	0	0	1	0	13	57					T	4847718	C	T	4847718	2	4	79	1	0	0	0	0	0	0	0	1	12133	755	27	1		1	PLIN3	19	4847718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3013	4847718	54281265	18409	28726											
PLIN3	10226	broad.mit.edu	37	chr19	4847894	4847894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagccatccagggatgtggCgatgcgggctgcaaggaaaa	15	8	0	0	rs146856306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847894C>T	ENST00000221957.4	-	6	819	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	215					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)	AGGGATGTGGCGATGCGGGCT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17690	0.0		0.0	False		,,,				2504	0.001					ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(643-645)Gcc>Acc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)	C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	40	32	34		643,607,643	2.1	0.8	19	dbSNP_134	34	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	PLIN3	NM_001164189.1,NM_001164194.1,NM_005817.4	58,58,58	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	215/434,203/423,215/435	4847894	3,13003	2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4847894C>T	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.643G>A	19.37:g.4847894C>T	ENSP00000221957:p.Ala215Thr					PLIN3_ENST00000585479.1_Missense_Mutation_p.A215T|PLIN3_ENST00000592528.1_Missense_Mutation_p.A203T	p.A215T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			6	819	-			215					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.643G>A	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022869	0.54683	0.0	3.49E-4	ENSG00000105355	ENST00000221957	T	0.28255	1.62	4.41	2.14	0.27477	.	0.185373	0.34291	U	0.004087	T	0.44540	0.1298	M	0.84082	2.675	0.51233	D	0.999911	D;P;D	0.60575	0.985;0.951;0.988	P;B;P	0.52627	0.579;0.32;0.704	T	0.49916	-0.8888	10	0.87932	D	0	-28.6311	8.6119	0.33808	0.1512:0.7668:0.0:0.082	.	215;32;215	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	T	215	ENSP00000221957:A215T	ENSP00000221957:A215T	A	-	1	0	PLIN3	4798894	0.998000	0.40836	0.766000	0.31476	0.083000	0.17756	4.092000	0.57707	0.861000	0.35504	0.511000	0.50034	GCC		0.597	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		21	107	0	0	0	1	0	21	107					T	4847894	C	T	4847894	3	4	79	1	0	0	0	0	1	0	0	0	12133	768	27	1	673	1	PLIN3	19	4847894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	4847894	54281089	18410	28727											
PLIN3	10226	broad.mit.edu	37	chr19	4852162	4852162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacgccgccggtcactacgGactttgtcttgtccacgccg	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4852162G>A	ENST00000221957.4	-	5	676	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F|PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	167					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)	GGTCACTACGGACTTTGTCTT	0.657											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(499-501)tCc>tTc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77	58	64					19																	4852162		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4852162G>A	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.500C>T	19.37:g.4852162G>A	ENSP00000221957:p.Ser167Phe		OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	PLIN3_ENST00000585479.1_Missense_Mutation_p.S167F|PLIN3_ENST00000592528.1_Missense_Mutation_p.S155F	p.S167F	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			5	676	-			167					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.500C>T	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532738	0.45073	.	.	ENSG00000105355	ENST00000221957	T	0.04275	3.66	4.95	2.69	0.31865	.	0.679439	0.14052	U	0.344650	T	0.23766	0.0575	M	0.83953	2.67	0.35540	D	0.802987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.28964	-1.0027	10	0.87932	D	0	-11.6118	14.4207	0.67180	0.0:0.2818:0.7182:0.0	.	167;167	O60664-3;O60664	.;PLIN3_HUMAN	F	167	ENSP00000221957:S167F	ENSP00000221957:S167F	S	-	2	0	PLIN3	4803162	0.976000	0.34144	0.095000	0.20976	0.014000	0.08584	2.719000	0.47244	0.425000	0.26087	0.555000	0.69702	TCC		0.657	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		20	176	0	0	0	1	0	20	176					A	4852162	G	A	4852162	3	1	79	1	0	0	0	0	1	0	0	0	12133	1174	41	2	820	2	PLIN3	19	4852162	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4268	4852162	54276821	18411	28728											
PLIN3	10226	broad.mit.edu	37	chr19	4859664	4859664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtccagccccctgtgggCgtattcgctggctgatgcaa	12	13	0	1	rs149231262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4859664C>T	ENST00000221957.4	-	4	462	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T|PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	96					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)	CCCCTGTGGGCGTATTCGCTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19205	0.0		0.0	False		,,,				2504	0.001					ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(286-288)Gcc>Acc		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77	69	71					19																	4859664		2203	4300	6503	SO:0001583	missense	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4859664C>T	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.286G>A	19.37:g.4859664C>T	ENSP00000221957:p.Ala96Thr					PLIN3_ENST00000585479.1_Missense_Mutation_p.A96T|PLIN3_ENST00000592528.1_Missense_Mutation_p.A96T	p.A96T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			4	462	-			96					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	ENST00000221957.4	37	c.286G>A	CCDS12137.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753824	0.69648	.	.	ENSG00000105355	ENST00000221957	T	0.09538	2.97	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	M	0.87269	2.87	0.50467	D	0.99987	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49844	-0.8896	10	0.87932	D	0	-18.4431	16.2945	0.82763	0.0:1.0:0.0:0.0	.	96;96	O60664-3;O60664	.;PLIN3_HUMAN	T	96	ENSP00000221957:A96T	ENSP00000221957:A96T	A	-	1	0	PLIN3	4810664	1.000000	0.71417	0.614000	0.29051	0.117000	0.20001	5.674000	0.68117	2.161000	0.67846	0.462000	0.41574	GCC		0.567	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		43	252	0	0	0	1	0	43	252					T	4859664	C	T	4859664	3	4	79	1	0	0	0	0	1	0	0	0	12133	768	27	1	1038	1	PLIN3	19	4859664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7502	4859664	54269319	18412	28729											
ARRDC5	645432	broad.mit.edu	37	chr19	4896825	4896825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttgctggtgaaggtagaaGgaagcctgggaggtaagttg	17	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896825G>A	ENST00000381781.2	-	2	358	c.359C>T	c.(358-360)cCt>cTt	p.P120L		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	120										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGGTAGAAGGAAGCCTGGG	0.448																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(358-360)cCt>cTt		arrestin domain containing 5							158	153	155					19																	4896825		1935	4142	6077	SO:0001583	missense	645432				signal transduction			g.chr19:4896825G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.359C>T	19.37:g.4896825G>A	ENSP00000371200:p.Pro120Leu						p.P120L	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	358	-			120						Missense_Mutation	SNP	ENST00000381781.2	37	c.359C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174604	0.38413	.	.	ENSG00000205784	ENST00000381781	T	0.32753	1.44	4.37	4.37	0.52481	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.40469	N	0.001088	T	0.56949	0.2020	M	0.80508	2.5	0.46749	D	0.999188	D	0.89917	1.0	D	0.91635	0.999	T	0.62534	-0.6834	10	0.66056	D	0.02	-14.491	14.3371	0.66598	0.0:0.0:1.0:0.0	.	120	A6NEK1	ARRD5_HUMAN	L	120	ENSP00000371200:P120L	ENSP00000371200:P120L	P	-	2	0	ARRDC5	4847825	0.989000	0.36119	0.790000	0.31976	0.387000	0.30353	3.190000	0.50973	2.453000	0.82957	0.579000	0.79373	CCT		0.448	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		16	431	0	0	0	1	0	16	431					A	4896825	G	A	4896825	3	1	79	1	0	0	0	0	1	0	0	0	987	1000	35	2	677	2	ARRDC5	19	4896825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37161	4896825	54232158	18413	28730											
ARRDC5	645432	broad.mit.edu	37	chr19	4896836	4896836	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtagaaggaagcctgggAggtaagttgaaatggaagtc	16	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896836A>G	ENST00000381781.2	-	2	347	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	116										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGCCTGGGAGGTAAGTTGA	0.443																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(346-348)ccT>ccC		arrestin domain containing 5							156	152	153					19																	4896836		1936	4140	6076	SO:0001819	synonymous_variant	645432				signal transduction			g.chr19:4896836A>G		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.348T>C	19.37:g.4896836A>G							p.P116P	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	347	-			116						Silent	SNP	ENST00000381781.2	37	c.348T>C	CCDS45929.1																																																																																				0.443	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		67	362	0	0	0	1	0	67	362					G	4896836	A	G	4896836	2	3	79	1	0	0	0	0	0	0	0	1	987	291	11	4		4	ARRDC5	19	4896836	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11	4896836	54232147	18414	28731											
UHRF1	29128	broad.mit.edu	37	chr19	4950688	4950688	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccgaggccaaggactggcGgtcggggaagccggtcaggg	21	10	1	0	rs377699288		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							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)	p.R541Q(2)		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)		AAGGACTGGCGGTCGGGGAAG	0.607																																						ENST00000592666.1																			2	Substitution - Missense(2)	p.R541Q(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1		G	GLN/ARG,GLN/ARG	0,3872		0,0,1936	20	25	24		1583,1622	4.8	0.9	19		24	1,8195		0,1,4097	no	missense,missense	UHRF1	NM_001048201.1,NM_013282.3	43,43	0,1,6033	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	528/794,541/807	4950688	1,12067	1936	4098	6034			29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4950688G>A	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.4950688G>A										Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	2159	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37			.	.	.	.	.	.	.	.	.	.	G	20.6	4.025035	0.75390	0.0	1.22E-4	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.84	4.84	0.62591	SRA-YDG (4);	0.056632	0.64402	D	0.000002	T	0.75133	0.3808	L	0.49640	1.575	0.43000	D	0.994518	D;D	0.89917	1.0;0.987	D;P	0.85130	0.997;0.524	T	0.76170	-0.3057	8	0.49607	T	0.09	-27.198	17.9546	0.89064	0.0:0.0:1.0:0.0	.	541;528	Q2HIX7;Q96T88	.;UHRF1_HUMAN	Q	528;143;528;528;541	.	ENSP00000262952:R528Q	R	+	2	0	UHRF1	4901688	1.000000	0.71417	0.886000	0.34754	0.920000	0.55202	5.265000	0.65519	2.248000	0.74166	0.555000	0.69702	CGG		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		39	158	0	0	0	1	0	39	158					A	4950688	G	A	4950688	1	1	79	0	1	0	0	0	0	0	0	0	17021	1116	39	1		1	UHRF1	19	4950688	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53852	4950688	54178295	18415	28732											
KDM4B	23030	broad.mit.edu	37	chr19	5047658	5047658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagcatcaactacctgCactttggggagcctaagtcc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5047658C>T	ENST00000159111.4	+	6	822	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y|KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	202	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAACTACCTGCACTTTGGGGA	0.632																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(604-606)Cac>Tac		lysine (K)-specific demethylase 4B							238	162	188					19																	5047658		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5047658C>T	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.604C>T	19.37:g.5047658C>T	ENSP00000159111:p.His202Tyr					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.H202Y|KDM4B_ENST00000381759.4_Missense_Mutation_p.H202Y	p.H202Y	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			6	822	+			202			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.604C>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960249	0.92791	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71817	-0.6;-0.6;-0.6	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	H	0.94423	3.535	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	0.92139	0.5719	10	0.87932	D	0	-45.6557	16.9672	0.86290	0.0:1.0:0.0:0.0	.	202;202;202	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Y	202	ENSP00000159111:H202Y;ENSP00000371178:H202Y;ENSP00000440495:H202Y	ENSP00000159111:H202Y	H	+	1	0	KDM4B	4998658	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.564000	0.82326	2.223000	0.72356	0.655000	0.94253	CAC		0.632	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		95	472	0	0	0	1	0	95	472					T	5047658	C	T	5047658	3	4	79	1	0	0	0	0	1	0	0	0	8159	710	25	2	618	2	KDM4B	19	5047658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96970	5047658	54081325	18416	28733											
KDM4B	23030	broad.mit.edu	37	chr19	5077407	5077407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggagctcgcagggctgcGacgccttcctgcggcataag	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5077407G>A	ENST00000159111.4	+	8	924	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N|KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	236	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAGGGCTGCGACGCCTTCCT	0.657																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(706-708)Gac>Aac		lysine (K)-specific demethylase 4B							130	134	133					19																	5077407		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5077407G>A	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.706G>A	19.37:g.5077407G>A	ENSP00000159111:p.Asp236Asn					KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.D236N|KDM4B_ENST00000381759.4_Missense_Mutation_p.D236N	p.D236N	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			8	924	+			236			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.706G>A	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760404	0.69763	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.71461	-0.57;-0.57;-0.57	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.15473	0.01;0.013;0.013	B;B;B	0.18561	0.013;0.003;0.022	T	0.50792	-0.8786	10	0.39692	T	0.17	-28.7526	17.2595	0.87066	0.0:0.0:1.0:0.0	.	236;236;236	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	N	236	ENSP00000159111:D236N;ENSP00000371178:D236N;ENSP00000440495:D236N	ENSP00000159111:D236N	D	+	1	0	KDM4B	5028407	1.000000	0.71417	0.916000	0.36221	0.936000	0.57629	9.690000	0.98676	2.066000	0.61787	0.462000	0.41574	GAC		0.657	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		221	1154	0	0	0	1	0	221	1154					A	5077407	G	A	5077407	3	1	79	1	0	0	0	0	1	0	0	0	8159	1058	37	1	728	1	KDM4B	19	5077407	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29749	5077407	54051576	18417	28734											
PTPRS	5802	broad.mit.edu	37	chr19	5208314	5208314	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttatgcacttggccaatgAagtcgatgaagccctccccc	8	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5208314A>G	ENST00000587303.1	-	35	5675	c.5576T>C	c.(5575-5577)tTc>tCc	p.F1859S	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S|PTPRS_ENST00000372412.4_Missense_Mutation_p.F1860S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1859	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	TTGGCCAATGAAGTCGATGAA	0.592																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5578-5580)tTc>tCc		protein tyrosine phosphatase, receptor type, S							119	104	109					19																	5208314		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5208314A>G	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.5576T>C	19.37:g.5208314A>G	ENSP00000467537:p.Phe1859Ser					PTPRS_ENST00000587303.1_Missense_Mutation_p.F1859S|PTPRS_ENST00000357368.4_Missense_Mutation_p.F1859S|PTPRS_ENST00000353284.2_Missense_Mutation_p.F1412S|PTPRS_ENST00000262963.6_Missense_Mutation_p.F1839S|PTPRS_ENST00000348075.2_Missense_Mutation_p.F1821S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.F1821S|PTPRS_ENST00000592099.1_Missense_Mutation_p.F1412S	p.F1860S			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	36	5812	-			1859			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5579T>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	a	16.08	3.021149	0.54576	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	2.89	2.89	0.33648	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	T	0.56963	0.2021	H	0.97186	3.955	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;0.994;1.0;0.997;1.0;0.999	T	0.68364	-0.5428	10	0.87932	D	0	.	10.2806	0.43537	1.0:0.0:0.0:0.0	.	1441;1412;1416;1821;1859;1454	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	1454;1860;1859;1859;1850;1839;1821;1441;1416;1412	ENSP00000361489:F1860S;ENSP00000349932:F1859S;ENSP00000262963:F1839S;ENSP00000269907:F1821S;ENSP00000327313:F1412S	ENSP00000262963:F1839S	F	-	2	0	PTPRS	5159314	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.946000	0.92992	1.199000	0.43173	0.235000	0.17854	TTC		0.592	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			40	225	0	0	0	1	0	40	225					G	5208314	A	G	5208314	3	3	79	1	0	0	0	0	1	0	0	0	12861	246	9	4	282	4	PTPRS	19	5208314	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130907	5208314	53920669	18418	28735											
PTPRS	5802	broad.mit.edu	37	chr19	5212104	5212104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacggcctccagcagggcctCgtggatgaagctgtactggt	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5212104C>T	ENST00000587303.1	-	31	5026	c.4927G>A	c.(4927-4929)Gag>Aag	p.E1643K	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1644K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1643	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	AGCAGGGCCTCGTGGATGAAG	0.607																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(4930-4932)Gag>Aag		protein tyrosine phosphatase, receptor type, S							83	78	79					19																	5212104		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5212104C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4927G>A	19.37:g.5212104C>T	ENSP00000467537:p.Glu1643Lys					PTPRS_ENST00000587303.1_Missense_Mutation_p.E1643K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1643K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1196K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1623K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1605K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1605K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1196K	p.E1644K			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	32	5163	-			1643			Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4930G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517167	0.64634	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	2.47	2.47	0.30058	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.177742	0.35772	U	0.002986	T	0.28067	0.0692	N	0.12746	0.255	0.40297	D	0.978561	P;B;P;D;P;P	0.53312	0.703;0.154;0.832;0.959;0.894;0.878	P;B;P;P;P;P	0.53861	0.495;0.1;0.495;0.615;0.736;0.501	T	0.31392	-0.9945	10	0.72032	D	0.01	.	13.3072	0.60359	0.0:1.0:0.0:0.0	.	1225;1196;1200;1605;1643;1238	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	1238;1644;1643;1643;1634;1623;1605;1225;1200;1196	ENSP00000361489:E1644K;ENSP00000349932:E1643K;ENSP00000262963:E1623K;ENSP00000269907:E1605K;ENSP00000327313:E1196K	ENSP00000262963:E1623K	E	-	1	0	PTPRS	5163104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.800000	0.69108	1.399000	0.46721	0.478000	0.44815	GAG		0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			73	291	0	0	0	1	0	73	291					T	5212104	C	T	5212104	3	4	79	1	0	0	0	0	1	0	0	0	12861	893	31	1	947	1	PTPRS	19	5212104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3790	5212104	53916879	18419	28736											
PTPRS	5802	broad.mit.edu	37	chr19	5222822	5222822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggccctgcagcgtgagcGcgttctccgcgcccggctca	13	17	3	1	rs370623380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5222822G>A	ENST00000587303.1	-	17	3080	c.2981C>T	c.(2980-2982)gCg>gTg	p.A994V	PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A995V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	994	Fibronectin type-III 7. {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)	CAGCGTGAGCGCGTTCTCCGC	0.731													g|||	2	0.000399361	0.0015	0.0	5008	,	,		8124	0.0		0.0	False		,,,				2504	0.0					ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(2983-2985)gCg>gTg		protein tyrosine phosphatase, receptor type, S		A	VAL/ALA,,VAL/ALA,	2,4200		0,2,2099	12	15	14		2981,,2915,	-0.8	0.8	19		14	0,8130		0,0,4065	no	missense,intron,missense,intron	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	64,,64,	0,2,6164	AA,AG,GG		0.0,0.0476,0.0162	benign,,benign,	994/1949,,972/1911,	5222822	2,12330	2101	4065	6166	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5222822G>A	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.2981C>T	19.37:g.5222822G>A	ENSP00000467537:p.Ala994Val					PTPRS_ENST00000587303.1_Missense_Mutation_p.A994V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A994V|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.A990V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A972V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.A972V|PTPRS_ENST00000592099.1_Intron	p.A995V			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	18	3217	-			994	L -> V (in Ref. 1; AAC50299).		Fibronectin type-III 7.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.2984C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	5.095	0.203235	0.09704	4.76E-4	0.0	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.33	-0.79	0.10932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.405543	0.21402	N	0.075123	T	0.37265	0.0997	L	0.39020	1.185	0.19575	N	0.999969	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.21143	-1.0254	10	0.29301	T	0.29	.	10.5921	0.45316	0.2704:0.0:0.7296:0.0	.	972;994	Q13332-6;Q13332	.;PTPRS_HUMAN	V	995;994;994;985;990;972	ENSP00000361489:A995V;ENSP00000349932:A994V;ENSP00000262963:A990V;ENSP00000269907:A972V	ENSP00000262963:A990V	A	-	2	0	PTPRS	5173822	0.450000	0.25697	0.820000	0.32676	0.232000	0.25224	0.394000	0.20834	-0.270000	0.09285	-0.993000	0.02533	GCG		0.731	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			45	198	0	0	0	1	0	45	198					A	5222822	G	A	5222822	3	1	79	1	0	0	0	0	1	0	0	0	12861	1087	38	1	2949	1	PTPRS	19	5222822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10718	5222822	53906161	18420	28737											
PTPRS	5802	broad.mit.edu	37	chr19	5244271	5244271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccgatggagttgacgGccgacacccagatctcgtac	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244271G>A	ENST00000587303.1	-	10	1310	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A405V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	404	Fibronectin type-III 1. {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)	GGAGTTGACGGCCGACACCCA	0.667																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1213-1215)gCc>gTc		protein tyrosine phosphatase, receptor type, S							56	49	52					19																	5244271		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244271G>A	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.1211C>T	19.37:g.5244271G>A	ENSP00000467537:p.Ala404Val					PTPRS_ENST00000587303.1_Missense_Mutation_p.A404V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A404V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.A391V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A400V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A391V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A391V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A391V	p.A405V			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1447	-			404			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1214C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573156	0.65765	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	3.93	2.89	0.33648	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000004	D	0.85314	0.5668	H	0.95679	3.705	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.999;0.994;0.999;1.0;0.996	D;D;D;D;D;D	0.97110	0.99;0.983;0.95;0.969;1.0;0.935	D	0.87772	0.2606	10	0.87932	D	0	.	11.3321	0.49482	0.0894:0.0:0.9106:0.0	.	404;391;395;391;404;417	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	417;405;404;404;404;400;391;404;395;391	ENSP00000361489:A405V;ENSP00000349932:A404V;ENSP00000262963:A400V;ENSP00000269907:A391V;ENSP00000327313:A391V	ENSP00000262963:A400V	A	-	2	0	PTPRS	5195271	1.000000	0.71417	0.274000	0.24659	0.419000	0.31324	9.517000	0.98020	0.888000	0.36160	0.462000	0.41574	GCC		0.667	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			37	300	0	0	0	1	0	37	300					A	5244271	G	A	5244271	3	1	79	1	0	0	0	0	1	0	0	0	12861	1203	42	2	4747	2	PTPRS	19	5244271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21449	5244271	53884712	18421	28738											
PTPRS	5802	broad.mit.edu	37	chr19	5244425	5244425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggatctgggttgcccgagtCccacgtgatggtgatgctgg	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244425C>T	ENST00000587303.1	-	10	1156	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000372412.4_Missense_Mutation_p.D354N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	353	Fibronectin type-III 1. {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)	TTGCCCGAGTCCCACGTGATG	0.552																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(1060-1062)Gac>Aac		protein tyrosine phosphatase, receptor type, S							126	116	119					19																	5244425		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244425C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1057G>A	19.37:g.5244425C>T	ENSP00000467537:p.Asp353Asn					PTPRS_ENST00000587303.1_Missense_Mutation_p.D353N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D353N|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.D340N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D349N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D340N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D340N|PTPRS_ENST00000588012.1_Missense_Mutation_p.D340N	p.D354N			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1293	-			353			Fibronectin type-III 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1060G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887699	0.91814	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000002	T	0.67692	0.2920	L	0.54323	1.7	0.32005	N	0.602871	D;P;D;D;D;D	0.89917	0.991;0.865;0.981;0.999;1.0;0.959	P;B;P;D;D;P	0.91635	0.763;0.425;0.763;0.973;0.999;0.721	T	0.74665	-0.3589	10	0.62326	D	0.03	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	353;340;344;340;353;366	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	N	366;354;353;353;353;349;340;353;344;340	ENSP00000361489:D354N;ENSP00000349932:D353N;ENSP00000262963:D349N;ENSP00000269907:D340N;ENSP00000327313:D340N	ENSP00000262963:D349N	D	-	1	0	PTPRS	5195425	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GAC		0.552	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			64	271	0	0	0	1	0	64	271					T	5244425	C	T	5244425	3	4	79	1	0	0	0	0	1	0	0	0	12861	855	30	2	4901	2	PTPRS	19	5244425	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	5244425	53884558	18422	28739											
ZNRF4	148066	broad.mit.edu	37	chr19	5455699	5455699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctagcagcacacagacagCgaagcgggtgaccatggggt	14	11	0	2	rs201511283		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5455699C>T	ENST00000222033.4	+	1	274	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	66						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A66V(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACACAGACAGCGAAGCGGGTG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		15669	0.001		0.0	False		,,,				2504	0.0					ENST00000222033.4																			1	Substitution - Missense(1)	p.A66V(1)	large_intestine(1)	NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(196-198)gCg>gTg		zinc and ring finger 4		C	VAL/ALA	0,4120		0,0,2060	42	51	48		197	-4.4	0	19		48	1,8357		0,1,4178	no	missense	ZNRF4	NM_181710.3	64	0,1,6238	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	66/430	5455699	1,12477	2060	4179	6239	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455699C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.197C>T	19.37:g.5455699C>T	ENSP00000222033:p.Ala66Val						p.A66V	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	274	+			66					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.197C>T	CCDS42475.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.569	1.120575	0.20877	0.0	1.2E-4	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.22	-4.37	0.03633	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	P	0.45396	0.857	B	0.35240	0.198	T	0.46005	-0.9222	9	0.54805	T	0.06	.	10.7534	0.46221	0.3551:0.6449:0.0:0.0	.	66	Q8WWF5	ZNRF4_HUMAN	V	66	ENSP00000222033:A66V	ENSP00000222033:A66V	A	+	2	0	ZNRF4	5406699	0.015000	0.18098	0.001000	0.08648	0.016000	0.09150	-0.968000	0.03817	-0.629000	0.05575	0.313000	0.20887	GCG		0.697	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		95	356	0	0	0	1	0	95	356					T	5455699	C	T	5455699	3	4	79	1	0	0	0	0	1	0	0	0	18267	768	27	1	199	1	ZNRF4	19	5455699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211274	5455699	53673284	18423	28740											
ZNRF4	148066	broad.mit.edu	37	chr19	5456539	5456539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctcccaagccccccggcGctcctgccccgtgtgcaaac	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5456539G>A	ENST00000222033.4	+	1	1114	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	346						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCCCCCCGGCGCTCCTGCCCC	0.622																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1036-1038)cGc>cAc		zinc and ring finger 4							88	101	97					19																	5456539		2017	4158	6175	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5456539G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1037G>A	19.37:g.5456539G>A	ENSP00000222033:p.Arg346His						p.R346H	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1114	+			346					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.1037G>A	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497890	0.26861	.	.	ENSG00000105428	ENST00000222033	T	0.44482	0.92	4.47	2.17	0.27698	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.131872	0.46442	U	0.000287	T	0.24122	0.0584	N	0.25890	0.77	0.09310	N	1	B	0.28400	0.21	B	0.26614	0.071	T	0.14282	-1.0478	10	0.59425	D	0.04	-18.9158	3.2793	0.06909	0.2195:0.0:0.5723:0.2082	.	346	Q8WWF5	ZNRF4_HUMAN	H	346	ENSP00000222033:R346H	ENSP00000222033:R346H	R	+	2	0	ZNRF4	5407539	0.142000	0.22610	0.128000	0.21923	0.725000	0.41563	1.135000	0.31454	0.871000	0.35750	0.561000	0.74099	CGC		0.622	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		20	631	0	0	0	1	0	20	631					A	5456539	G	A	5456539	3	1	79	1	0	0	0	0	1	0	0	0	18267	1087	38	1	1039	1	ZNRF4	19	5456539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	840	5456539	53672444	18424	28741											
SAFB2	9667	broad.mit.edu	37	chr19	5592849	5592849	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagtctgcacgatatcGgtcctccattgccacacgct	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5592849G>A	ENST00000252542.4	-	16	2521	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	753	Arg-rich.|Interacts with SAFB1.				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)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCACGATATCGGTCCTCCATT	0.507																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2257-2259)Cga>Tga		scaffold attachment factor B2							153	117	129					19																	5592849		2203	4300	6503	SO:0001587	stop_gained	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5592849G>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2257C>T	19.37:g.5592849G>A	ENSP00000252542:p.Arg753*						p.R753*	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	16	2521	-			753			Arg-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Nonsense_Mutation	SNP	ENST00000252542.4	37	c.2257C>T	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	G	37	6.247483	0.97412	.	.	ENSG00000130254	ENST00000252542	.	.	.	4.7	2.52	0.30459	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.424	12.9125	0.58187	0.0:0.0:0.5736:0.4264	.	.	.	.	X	753	.	ENSP00000252542:R753X	R	-	1	2	SAFB2	5543849	0.784000	0.28713	0.872000	0.34217	0.114000	0.19823	0.052000	0.14163	0.155000	0.19261	-0.364000	0.07487	CGA		0.507	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		10	229	0	0	0	1	0	10	229					A	5592849	G	A	5592849	4	1	79	1	0	0	0	0	0	1	0	0	13857	1124	39	1	628	1	SAFB2	19	5592849	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	136310	5592849	53536134	18425	28742											
SAFB	6294	broad.mit.edu	37	chr19	5641869	5641869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtcgaagacgatgatgCtgataacctccaggagtccc	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5641869C>A	ENST00000292123.5	+	4	565	c.458C>A	c.(457-459)gCt>gAt	p.A153D	SAFB_ENST00000588852.1_Missense_Mutation_p.A153D|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000586934.1_3'UTR	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	153					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)		GACGATGATGCTGATAACCTC	0.488																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(457-459)gCt>gAt		scaffold attachment factor B							131	127	129					19																	5641869		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5641869C>A	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.458C>A	19.37:g.5641869C>A	ENSP00000292123:p.Ala153Asp					SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000592224.1_Missense_Mutation_p.A153D|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000588852.1_Missense_Mutation_p.A153D	p.A153D	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	4	565	+			153					A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.458C>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	C	6.482	0.457123	0.12283	.	.	ENSG00000160633	ENST00000292123	T	0.11712	2.75	5.47	4.42	0.53409	.	0.242758	0.29501	N	0.011962	T	0.12987	0.0315	M	0.62723	1.935	0.48571	D	0.999677	B;B;B;B;B	0.27823	0.023;0.19;0.052;0.052;0.052	B;B;B;B;B	0.27608	0.013;0.081;0.021;0.028;0.021	T	0.04737	-1.0930	10	0.17369	T	0.5	-5.9997	13.5464	0.61707	0.1611:0.8389:0.0:0.0	.	153;153;153;153;153	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	D	153	ENSP00000292123:A153D	ENSP00000292123:A153D	A	+	2	0	SAFB	5592869	0.025000	0.19082	0.015000	0.15790	0.350000	0.29205	2.814000	0.48010	1.239000	0.43787	0.557000	0.71058	GCT		0.488	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			91	402	1	0	9.07295e-45	1	1.11094e-44	91	402					A	5641869	C	A	5641869	3	1	79	1	0	0	0	0	1	0	0	0	13856	797	28	3	472	3	SAFB	19	5641869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49020	5641869	53487114	18426	28743											
RPL36	25873	broad.mit.edu	37	chr19	5691599	5691599	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctgagcaacgtactggcCgccatgaggaaagctgctgc	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5691599C>T	ENST00000577222.1	+	6	829	c.285C>T	c.(283-285)gcC>gcT	p.A95A	RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000347512.3_Silent_p.A95A|RPL36_ENST00000579649.1_Silent_p.A95A|RPL36_ENST00000394580.2_Silent_p.A95A			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	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)|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						ACGTACTGGCCGCCATGAGGA	0.637											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(283-285)gcC>gcT		ribosomal protein L36							14	16	15					19																	5691599		2189	4273	6462	SO:0001819	synonymous_variant	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691599C>T		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.285C>T	19.37:g.5691599C>T			OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000394580.2_Silent_p.A95A|RPL36_ENST00000347512.3_Silent_p.A95A|RPL36_ENST00000579649.1_Silent_p.A95A	p.A95A			Q9Y3U8	RL36_HUMAN			6	829	+			95					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	ENST00000577222.1	37	c.285C>T	CCDS12147.1																																																																																				0.637	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		5	147	0	0	0	1	0	5	147					T	5691599	C	T	5691599	2	4	79	1	0	0	0	0	0	0	0	1	13636	639	23	1		1	RPL36	19	5691599	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49730	5691599	53437384	18427	28744											
LONP1	25873	broad.mit.edu	37	chr19	5693652	5693652	+	IGR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctctggcgaaggtgtaggCtatgcgggcgctctccttca	15	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5693652C>A	ENST00000577222.1	+	0	874				LONP1_ENST00000590729.1_Missense_Mutation_p.A687S|LONP1_ENST00000540670.2_Missense_Mutation_p.A621S|LONP1_ENST00000593119.1_Missense_Mutation_p.A753S|LONP1_ENST00000360614.3_Missense_Mutation_p.A817S|LONP1_ENST00000585374.1_Missense_Mutation_p.A703S			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						AAGGTGTAGGCTATGCGGGCG	0.637																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2449-2451)Gcc>Tcc		lon peptidase 1, mitochondrial							171	122	139					19																	5693652		2203	4300	6503	SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5693652C>A		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693652C>A						LONP1_ENST00000593119.1_Missense_Mutation_p.A753S|LONP1_ENST00000540670.2_Missense_Mutation_p.A621S|LONP1_ENST00000590729.1_Missense_Mutation_p.A687S|LONP1_ENST00000585374.1_Missense_Mutation_p.A703S	p.A817S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			16	2606	-			817					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.2449G>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936412	0.92458	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.39787	1.06;1.06	4.33	4.33	0.51752	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.88377	2.95	0.80722	D	1	D;D;D	0.60575	0.988;0.965;0.988	D;D;D	0.73708	0.955;0.981;0.955	T	0.76011	-0.3115	10	0.66056	D	0.02	-30.7488	14.3306	0.66553	0.0:1.0:0.0:0.0	.	817;753;817	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	S	817;781;621	ENSP00000353826:A817S;ENSP00000441523:A621S	ENSP00000351177:A781S	A	-	1	0	LONP1	5644652	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	7.481000	0.81124	1.922000	0.55676	0.549000	0.68633	GCC		0.637	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		97	321	1	0	2.31626e-56	1	2.89815e-56	97	321					A	5693652	C	A	5693652	1	1	79	0	1	0	0	0	0	0	0	0	8930	797	28	3		3	LONP1	19	5693652	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2053	5693652	53435331	18428	28745											
LONP1	9361	broad.mit.edu	37	chr19	5694911	5694911	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctggggcaccaggtagCgctgcaagggcaaccgtcag	16	12	1	0	rs138134205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	ENST00000360614.3	-	14	2172	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	LONP1_ENST00000590729.1_Splice_Site_p.R542H|LONP1_ENST00000540670.2_Splice_Site_p.R476H|LONP1_ENST00000593119.1_Splice_Site_p.R608H|LONP1_ENST00000585374.1_Splice_Site_p.R558H	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCAGGTAGCGCTGCAAGGG	0.637																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e14-1		lon peptidase 1, mitochondrial		C	HIS/ARG	0,4406		0,0,2203	34	35	35		2015	2.7	0.6	19	dbSNP_134	35	1,8597	1.2+/-3.3	0,1,4298	yes	missense-near-splice	LONP1	NM_004793.2	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	672/960	5694911	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5694911C>T	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.2014-1G>A	19.37:g.5694911C>T						LONP1_ENST00000593119.1_Splice_Site_p.R608_splice|LONP1_ENST00000540670.2_Splice_Site_p.R476_splice|LONP1_ENST00000590729.1_Splice_Site_p.R542_splice|LONP1_ENST00000585374.1_Splice_Site_p.R558_splice	p.R672_splice	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			14	2172	-			672						Splice_Site	SNP	ENST00000360614.3	37	c.2013_splice	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187963	0.57909	0.0	1.16E-4	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.26067	2.06;1.76	3.72	2.65	0.31530	.	0.134457	0.42682	D	0.000661	T	0.24661	0.0598	L	0.60904	1.88	0.80722	D	1	P;P;P	0.45634	0.863;0.863;0.863	B;B;B	0.43194	0.411;0.411;0.411	T	0.01956	-1.1240	10	0.49607	T	0.09	-7.9883	6.32	0.21213	0.0:0.7612:0.0:0.2388	.	672;608;672	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	H	672;636;476	ENSP00000353826:R672H;ENSP00000441523:R476H	ENSP00000351177:R636H	R	-	2	0	LONP1	5645911	0.995000	0.38212	0.637000	0.29366	0.762000	0.43233	3.212000	0.51145	0.548000	0.28955	0.462000	0.41574	CGC		0.637	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793	Missense_Mutation	39	221	0	0	0	1	0	39	221					T	5694911	C	T	5694911	5	4	79	1	0	0	0	0	0	0	1	0	8930	782	27	1	884	1	LONP1	19	5694911	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1259	5694911	53434072	18429	28746											
LONP1	9361	broad.mit.edu	37	chr19	5714234	5714234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgccgacataaggctgggCgagacgaactttccttctca	11	12	1	1	rs148374055	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5714234C>T	ENST00000360614.3	-	2	635	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000593119.1_Missense_Mutation_p.A96T|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAGGCTGGGCGAGACGAACT	0.438													C|||	2	0.000399361	0.0	0.0	5008	,	,		20095	0.0		0.0	False		,,,				2504	0.002					ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(478-480)Gcc>Acc		lon peptidase 1, mitochondrial		C	THR/ALA	0,4406		0,0,2203	124	117	119		478	4.8	1	19	dbSNP_134	119	10,8590	7.7+/-29.5	0,10,4290	yes	missense	LONP1	NM_004793.2	58	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	160/960	5714234	10,12996	2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5714234C>T	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.478G>A	19.37:g.5714234C>T	ENSP00000353826:p.Ala160Thr					LONP1_ENST00000593119.1_Missense_Mutation_p.A96T|LONP1_ENST00000540670.2_5'UTR|LONP1_ENST00000590729.1_Missense_Mutation_p.A46T|LONP1_ENST00000585374.1_Missense_Mutation_p.A46T	p.A160T	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			2	635	-			160			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.478G>A	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916731	0.92249	0.0	0.001163	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.42513	0.97	4.81	4.81	0.61882	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.75447	2.3	0.58432	D	0.999991	D;P;D	0.54207	0.965;0.907;0.965	P;P;P	0.51055	0.657;0.523;0.657	T	0.57505	-0.7800	10	0.40728	T	0.16	-28.4331	15.4058	0.74877	0.0:1.0:0.0:0.0	.	160;96;160	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	T	160;124	ENSP00000353826:A160T	ENSP00000351177:A124T	A	-	1	0	LONP1	5665234	1.000000	0.71417	0.983000	0.44433	0.923000	0.55619	7.137000	0.77295	2.226000	0.72624	0.555000	0.69702	GCC		0.438	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		103	418	0	0	0	1	0	103	418					T	5714234	C	T	5714234	3	4	79	1	0	0	0	0	1	0	0	0	8930	768	27	1	2469	1	LONP1	19	5714234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19323	5714234	53414749	18430	28747											
TMEM146	257062	broad.mit.edu	37	chr19	5763298	5763298	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atttcatgtgtggatatcaaGccactggtaggtcccaaatc	9	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5763298G>T	ENST00000381624.3	+	16	1561	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.K158N	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	500					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)											TGGATATCAAGCCACTGGTAG	0.443																																						ENST00000381624.3																			0											c.(1498-1500)aaG>aaT		catsper channel auxiliary subunit delta							147	133	137					19																	5763298		1958	4151	6109	SO:0001583	missense	257062					integral to membrane		g.chr19:5763298G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1500G>T	19.37:g.5763298G>T	ENSP00000371037:p.Lys500Asn					CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Missense_Mutation_p.K158N	p.K500N	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			16	1561	+			500					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1500G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	g	11.91	1.781003	0.31502	.	.	ENSG00000174898	ENST00000394548;ENST00000381624;ENST00000381614;ENST00000309164;ENST00000381613	T;T	0.28255	1.62;1.62	3.32	3.32	0.38043	.	0.216430	0.22934	U	0.053879	T	0.43853	0.1266	L	0.56769	1.78	0.30142	N	0.803866	D;D	0.61697	0.99;0.977	P;P	0.58620	0.842;0.656	T	0.44498	-0.9324	10	0.72032	D	0.01	-25.9749	10.9	0.47045	0.0:0.0:1.0:0.0	.	426;500	B7WNK5;Q86XM0	.;TM146_HUMAN	N	426;500;158;171;169	ENSP00000371037:K500N;ENSP00000371027:K158N	ENSP00000310546:K171N	K	+	3	2	TMEM146	5714298	0.983000	0.35010	0.953000	0.39169	0.065000	0.16274	0.978000	0.29488	1.806000	0.52798	0.282000	0.19409	AAG		0.443	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		53	269	1	0	2.23044e-30	1	2.6157e-30	53	269					T	5763298	G	T	5763298	3	4	79	1	0	0	0	0	1	0	0	0	16112	962	34	3	1562	3	TMEM146	19	5763298	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49064	5763298	53365685	18431	28748											
PRR22	163154	broad.mit.edu	37	chr19	5784052	5784052	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagaagcacccgcatgggGccatctggaaacctgtgggc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5784052G>A	ENST00000419421.2	-	3	310	c.206C>T	c.(205-207)gCc>gTc	p.A69V	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	69										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCCGCATGGGGCCATCTGGAA	0.667																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(205-207)gCc>gTc		proline rich 22							24	32	30					19																	5784052		2175	4276	6451	SO:0001583	missense	163154							g.chr19:5784052G>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.206C>T	19.37:g.5784052G>A	ENSP00000407653:p.Ala69Val					CTB-54O9.9_ENST00000586012.1_3'UTR	p.A69V	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	310	-			67					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.206C>T	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113600	0.77210	.	.	ENSG00000212123	ENST00000419421	T	0.25912	1.77	4.58	4.58	0.56647	.	.	.	.	.	T	0.36608	0.0973	L	0.32530	0.975	0.33362	D	0.57249	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.46317	-0.9200	9	0.66056	D	0.02	-12.7944	8.4815	0.33045	0.1051:0.0:0.8949:0.0	.	69;67	E9PB31;Q8IZ63	.;PRR22_HUMAN	V	69	ENSP00000407653:A69V	ENSP00000407653:A69V	A	-	2	0	PRR22	5735052	1.000000	0.71417	0.949000	0.38748	0.910000	0.53928	4.060000	0.57477	2.373000	0.80994	0.491000	0.48974	GCC		0.667	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		49	394	0	0	0	1	0	49	394					A	5784052	G	A	5784052	3	1	79	1	0	0	0	0	1	0	0	0	12640	1203	42	2	1066	2	PRR22	19	5784052	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20754	5784052	53344931	18432	28749											
DUS3L	56931	broad.mit.edu	37	chr19	5785800	5785800	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacggcttgagcagggcgCcactgtgggacgggtgacga	18	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5785800C>T	ENST00000309061.7	-	11	1661	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	522							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						GAGCAGGGCGCCACTGTGGGA	0.662																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1564-1566)gGc>gAc		dihydrouridine synthase 3-like (S. cerevisiae)							24	18	20					19																	5785800		2193	4288	6481	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785800C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1565G>A	19.37:g.5785800C>T	ENSP00000311977:p.Gly522Asp					DUS3L_ENST00000320699.8_Missense_Mutation_p.G280D	p.G522D	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			11	1661	-			522					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1565G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549753	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.40756	1.02;1.02	4.26	4.26	0.50523	Aldolase-type TIM barrel (1);	0.057290	0.64402	D	0.000001	T	0.78666	0.4319	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87769	0.2604	10	0.87932	D	0	-12.2158	14.212	0.65771	0.0:1.0:0.0:0.0	.	280;522	Q96G46-3;Q96G46	.;DUS3L_HUMAN	D	522;280	ENSP00000311977:G522D;ENSP00000315558:G280D	ENSP00000311977:G522D	G	-	2	0	DUS3L	5736800	1.000000	0.71417	0.606000	0.28943	0.306000	0.27790	7.411000	0.80078	1.947000	0.56498	0.555000	0.69702	GGC		0.662	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		9	50	0	0	0	1	0	9	50					T	5785800	C	T	5785800	3	4	79	1	0	0	0	0	1	0	0	0	4823	739	26	2	399	2	DUS3L	19	5785800	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1748	5785800	53343183	18433	28750											
DUS3L	56931	broad.mit.edu	37	chr19	5786851	5786851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctcccgagagcggccGtggagctgggggagaagccg	19	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5786851G>A	ENST00000309061.7	-	9	1491	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Silent_p.H223H|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	465							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						GAGAGCGGCCGTGGAGCTGGG	0.642																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1393-1395)caC>caT		dihydrouridine synthase 3-like (S. cerevisiae)							17	22	20					19																	5786851		2198	4293	6491	SO:0001819	synonymous_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5786851G>A		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.1395C>T	19.37:g.5786851G>A						DUS3L_ENST00000320699.8_Silent_p.H223H	p.H465H	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			9	1491	-			465					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	37	c.1395C>T	CCDS32880.1																																																																																				0.642	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		20	74	0	0	0	1	0	20	74					A	5786851	G	A	5786851	2	1	79	1	0	0	0	0	0	0	0	1	4823	1136	40	1		1	DUS3L	19	5786851	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1051	5786851	53342132	18434	28751											
DUS3L	56931	broad.mit.edu	37	chr19	5789522	5789522	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacgggggctgggtcccgCgggccgccaactcctcctgc	16	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5789522C>T	ENST00000309061.7	-	3	692	c.596G>A	c.(595-597)cGc>cAc	p.R199H	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	199							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						CTGGGTCCCGCGGGCCGCCAA	0.716																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(595-597)cGc>cAc		dihydrouridine synthase 3-like (S. cerevisiae)							9	13	12					19																	5789522		2171	4259	6430	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789522C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.596G>A	19.37:g.5789522C>T	ENSP00000311977:p.Arg199His					DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.R199H	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			3	692	-			199					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.596G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	4.977	0.181424	0.09495	.	.	ENSG00000141994	ENST00000309061	T	0.18174	2.23	3.46	-0.567	0.11763	.	0.476605	0.20383	N	0.093420	T	0.07098	0.0180	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27157	-1.0082	10	0.39692	T	0.17	-30.0716	6.8336	0.23923	0.0:0.3103:0.0:0.6897	.	199	Q96G46	DUS3L_HUMAN	H	199	ENSP00000311977:R199H	ENSP00000311977:R199H	R	-	2	0	DUS3L	5740522	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.723000	0.04952	-0.333000	0.08476	0.491000	0.48974	CGC		0.716	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		17	89	0	0	0	1	0	17	89					T	5789522	C	T	5789522	3	4	79	1	0	0	0	0	1	0	0	0	4823	768	27	1	1400	1	DUS3L	19	5789522	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2671	5789522	53339461	18435	28752											
DUS3L	56931	broad.mit.edu	37	chr19	5790078	5790078	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggattagggagggacacaGcctgttcttgtcgtagttcg	14	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5790078G>T	ENST00000309061.7	-	2	463	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	123							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						GAGGGACACAGCCTGTTCTTG	0.612																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(367-369)Ctg>Atg		dihydrouridine synthase 3-like (S. cerevisiae)							84	84	84					19																	5790078		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790078G>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.367C>A	19.37:g.5790078G>T	ENSP00000311977:p.Leu123Met					DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.L123M	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	463	-			123					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.367C>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331403	0.60853	.	.	ENSG00000141994	ENST00000309061	T	0.30981	1.51	4.74	0.0836	0.14434	Zinc finger, CCCH-type (1);	0.000000	0.64402	D	0.000003	T	0.51702	0.1690	M	0.84219	2.685	0.45415	D	0.998391	D	0.76494	0.999	D	0.72625	0.978	T	0.53753	-0.8394	10	0.72032	D	0.01	-14.9503	9.1683	0.37065	0.341:0.0:0.659:0.0	.	123	Q96G46	DUS3L_HUMAN	M	123	ENSP00000311977:L123M	ENSP00000311977:L123M	L	-	1	2	DUS3L	5741078	1.000000	0.71417	0.073000	0.20177	0.876000	0.50452	4.223000	0.58587	0.172000	0.19760	-0.794000	0.03295	CTG		0.612	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		20	244	1	0	7.45023e-12	1	7.97024e-12	20	244					T	5790078	G	T	5790078	3	4	79	1	0	0	0	0	1	0	0	0	4823	962	34	3	1633	3	DUS3L	19	5790078	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	556	5790078	53338905	18436	28753											
FUT6	2528	broad.mit.edu	37	chr19	5832292	5832292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgtggatacaccttgCggtcggcagtgatgttgcag	14	10	0	1	rs373329854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5832292C>T	ENST00000318336.4	-	3	1481	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FUT6_ENST00000286955.5_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H|FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000524754.1_Missense_Mutation_p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	96					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						ATACACCTTGCGGTCGGCAGT	0.627																																						ENST00000318336.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						c.(286-288)cGc>cAc		fucosyltransferase 6 (alpha (1,3) fucosyltransferase)		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	74	67	69		287,287	3.1	0.4	19		69	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense	FUT6	NM_000150.2,NM_001040701.1	29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	96/360,96/360	5832292	3,13003	2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832292C>T		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.287G>A	19.37:g.5832292C>T	ENSP00000313398:p.Arg96His					FUT6_ENST00000524754.1_Missense_Mutation_p.R96H|FUT6_ENST00000286955.5_Missense_Mutation_p.R96H|FUT6_ENST00000592563.1_Missense_Mutation_p.R96H|FUT6_ENST00000527106.1_Missense_Mutation_p.R96H	p.R96H	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN			3	1481	-			96					A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.287G>A	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333141	0.60853	0.0	3.49E-4	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.09	3.09	0.35607	.	0.103025	0.39083	N	0.001471	T	0.52741	0.1753	M	0.83483	2.645	0.30186	N	0.799964	P;P	0.48350	0.909;0.574	P;P	0.52758	0.708;0.513	T	0.60939	-0.7163	10	0.87932	D	0	.	12.3817	0.55311	0.0:1.0:0.0:0.0	.	96;96	C9J8A2;P51993	.;FUT6_HUMAN	H	96	ENSP00000431708:R96H;ENSP00000432954:R96H;ENSP00000313398:R96H;ENSP00000286955:R96H;ENSP00000436547:R96H	ENSP00000286955:R96H	R	-	2	0	FUT6	5783292	0.001000	0.12720	0.376000	0.26042	0.020000	0.10135	-0.043000	0.12043	1.666000	0.50821	0.436000	0.28706	CGC		0.627	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150		99	328	0	0	0	1	0	99	328					T	5832292	C	T	5832292	3	4	79	1	0	0	0	0	1	0	0	0	6135	768	27	1	796	1	FUT6	19	5832292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42214	5832292	53296691	18437	28754											
FUT5	2527	broad.mit.edu	37	chr19	5867405	5867405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgcctgtgggtacacaCtggagtcggcagtgatgttg	15	9	1	1	rs145858323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5867405C>T	ENST00000588525.1	-	2	419	c.332G>A	c.(331-333)aGt>aAt	p.S111N	FUT5_ENST00000252675.5_Missense_Mutation_p.S111N	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	111					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						TGGGTACACACTGGAGTCGGC	0.652																																						ENST00000252675.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(331-333)aGt>aAt		fucosyltransferase 5 (alpha (1,3) fucosyltransferase)							68	63	65					19																	5867405		2203	4300	6503	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867405C>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"Fucosyltransferases"	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.332G>A	19.37:g.5867405C>T	ENSP00000466880:p.Ser111Asn					FUT5_ENST00000588525.1_Missense_Mutation_p.S111N	p.S111N			Q11128	FUT5_HUMAN			5	894	-			111					A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.332G>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	T	3.579	-0.086057	0.07097	.	.	ENSG00000130383	ENST00000252675	T	0.26518	1.73	2.09	-0.735	0.11137	.	0.484276	0.19789	N	0.106037	T	0.15609	0.0376	L	0.39326	1.205	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.15378	-1.0439	10	0.33141	T	0.24	.	3.5461	0.07829	0.1954:0.5024:0.0:0.3022	.	111	Q11128	FUT5_HUMAN	N	111	ENSP00000252675:S111N	ENSP00000252675:S111N	S	-	2	0	FUT5	5818405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.856000	0.04290	-0.159000	0.11021	-1.570000	0.00873	AGT		0.652	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		8	496	0	0	0	1	0	8	496					T	5867405	C	T	5867405	3	4	79	1	0	0	0	0	1	0	0	0	6134	565	20	2	796	2	FUT5	19	5867405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35113	5867405	53261578	18438	28755											
NDUFA11	126328	broad.mit.edu	37	chr19	5896970	5896970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccttcaaggaaggtgcccgGaggattgagtgtgactctgt	14	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5896970G>A	ENST00000308961.4	-	2	183	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	AC104532.3_ENST00000589277.1_RNA|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000592634.1_Missense_Mutation_p.P46S|AC024592.12_ENST00000586349.1_Missense_Mutation_p.S44F|NDUFA11_ENST00000418389.2_Missense_Mutation_p.P46S|AC104532.3_ENST00000590441.1_RNA	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	46					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(1)	2						AAGGTGCCCGGAGGATTGAGT	0.627																																						ENST00000418389.2																			0				central_nervous_system(1)|lung(1)	2						c.(136-138)Ccg>Tcg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	NADH(DB00157)						181	155	163					19																	5896970		2203	4300	6503	SO:0001583	missense	126328				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity	g.chr19:5896970G>A	AJ539081	CCDS12155.1, CCDS54203.1	19p13.3	2011-07-04				ENSG00000174886		"Mitochondrial respiratory chain complex / Complex I"	20371	protein-coding gene	gene with protein product	"complex I B14.7 subunit"	612638				12381726	Standard	NM_001193375		Approved	B14.7	uc002mdp.2	Q86Y39		ENST00000308961.4:c.136C>T	19.37:g.5896970G>A	ENSP00000311740:p.Pro46Ser					FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000308961.4_Missense_Mutation_p.P46S|NDUFA11_ENST00000592634.1_Missense_Mutation_p.P46S|AC024592.12_ENST00000586349.1_Missense_Mutation_p.S44F	p.P46S	NM_001193375.1	NP_001180304.1	Q86Y39	NDUAB_HUMAN			2	213	-			46					C9JT23|Q6ZS66	Missense_Mutation	SNP	ENST00000308961.4	37	c.136C>T	CCDS12155.1	.	.	.	.	.	.	.	.	.	.	G	9.076	0.998167	0.19043	.	.	ENSG00000174886	ENST00000418389;ENST00000308961	.	.	.	3.96	-3.07	0.05363	.	0.063491	0.64402	U	0.000005	T	0.40448	0.1117	M	0.72118	2.19	0.09310	N	1	B;B	0.21905	0.021;0.062	B;B	0.27170	0.021;0.077	T	0.37979	-0.9682	9	0.54805	T	0.06	.	6.2097	0.20621	0.178:0.5014:0.3205:0.0	.	46;46	Q86Y39;C9JT23	NDUAB_HUMAN;.	S	46	.	ENSP00000311740:P46S	P	-	1	0	NDUFA11	5847970	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	-0.708000	0.05015	-0.693000	0.03709	CCG		0.627	NDUFA11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452218.1	NM_175614		128	616	0	0	0	1	0	128	616					A	5896970	G	A	5896970	3	1	79	1	0	0	0	0	1	0	0	0	10303	1174	41	2	301	2	NDUFA11	19	5896970	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29565	5896970	53232013	18439	28756											
RANBP3	8498	broad.mit.edu	37	chr19	5928016	5928016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttctgcccaaatacaaagGcttgctgtgtggcggggtct	13	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5928016G>A	ENST00000340578.6	-	9	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V	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	259					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						AAATACAAAGGCTTGCTGTGT	0.468																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(775-777)gCc>gTc		RAN binding protein 3							127	132	130					19																	5928016		1917	4132	6049	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5928016G>A	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.776C>T	19.37:g.5928016G>A	ENSP00000341483:p.Ala259Val					RANBP3_ENST00000439268.2_Missense_Mutation_p.A254V|RANBP3_ENST00000541471.1_Missense_Mutation_p.A131V|RANBP3_ENST00000034275.8_Missense_Mutation_p.A191V|RANBP3_ENST00000591092.1_Missense_Mutation_p.A186V	p.A259V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			9	833	-			259					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.776C>T	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995853	0.54147	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.32988	1.43;1.43;2.19;1.44	5.4	4.36	0.52297	.	0.243763	0.42294	D	0.000729	T	0.36991	0.0987	L	0.57536	1.79	0.40303	D	0.978638	P;P;P;P;P;P;P	0.51653	0.897;0.911;0.835;0.835;0.897;0.947;0.911	P;B;B;B;P;P;B	0.49853	0.624;0.363;0.363;0.363;0.566;0.566;0.44	T	0.10941	-1.0608	10	0.39692	T	0.17	-13.6051	11.1458	0.48430	0.089:0.0:0.911:0.0	.	131;254;131;186;191;254;259	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	V	259;254;191;190;131	ENSP00000341483:A259V;ENSP00000404837:A254V;ENSP00000034275:A191V;ENSP00000445071:A131V	ENSP00000034275:A191V	A	-	2	0	RANBP3	5879016	0.890000	0.30428	0.138000	0.22173	0.044000	0.14063	3.779000	0.55379	2.536000	0.85505	0.655000	0.94253	GCC		0.468	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		122	466	0	0	0	1	0	122	466					A	5928016	G	A	5928016	3	1	79	1	0	0	0	0	1	0	0	0	13079	1203	42	2	963	2	RANBP3	19	5928016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31046	5928016	53200967	18440	28757											
RFX2	5990	broad.mit.edu	37	chr19	6042117	6042117	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacctgggcaggatacacGtgctgcaccggctgcacctg	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6042117G>A	ENST00000303657.5	-	4	347	c.198C>T	c.(196-198)caC>caT	p.H66H	RFX2_ENST00000592546.1_Silent_p.H66H|RFX2_ENST00000359161.3_Silent_p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	66					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						CAGGATACACGTGCTGCACCG	0.597																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(196-198)caC>caT		regulatory factor X, 2 (influences HLA class II expression)							136	100	112					19																	6042117		2203	4300	6503	SO:0001819	synonymous_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6042117G>A		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.198C>T	19.37:g.6042117G>A						RFX2_ENST00000359161.3_Silent_p.H66H|RFX2_ENST00000592546.1_Silent_p.H66H	p.H66H	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN			4	347	-			66					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Silent	SNP	ENST00000303657.5	37	c.198C>T	CCDS12157.1																																																																																				0.597	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		32	449	0	0	0	1	0	32	449					A	6042117	G	A	6042117	2	1	79	1	0	0	0	0	0	0	0	1	13313	1136	40	1		1	RFX2	19	6042117	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114101	6042117	53086866	18441	28758											
ACSBG2	81616	broad.mit.edu	37	chr19	6156513	6156513	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcactcatgccaaagTgaacatcttgctggttgaga	9	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6156513T>C	ENST00000586696.1	+	5	734	c.458T>C	c.(457-459)gTg>gCg	p.V153A	ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000588304.1_Missense_Mutation_p.V103A|ACSBG2_ENST00000588485.1_Intron			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	153					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATGCCAAAGTGAACATCTTG	0.468																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(307-309)gTg>gCg		acyl-CoA synthetase bubblegum family member 2							168	156	160					19																	6156513		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6156513T>C		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.458T>C	19.37:g.6156513T>C	ENSP00000465589:p.Val153Ala					ACSBG2_ENST00000591403.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000252669.5_Missense_Mutation_p.V153A|ACSBG2_ENST00000586696.1_Missense_Mutation_p.V153A|ACSBG2_ENST00000588485.1_Intron	p.V103A			Q5FVE4	ACBG2_HUMAN			5	754	+			153					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.308T>C	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	T	8.116	0.779798	0.16120	.	.	ENSG00000130377	ENST00000252669	T	0.36878	1.23	5.9	4.82	0.62117	AMP-dependent synthetase/ligase (1);	0.000000	0.35677	N	0.003056	T	0.10035	0.0246	N	0.01640	-0.785	0.80722	D	1	B;B	0.12013	0.002;0.005	B;B	0.11329	0.004;0.006	T	0.29488	-1.0010	10	0.02654	T	1	-42.6966	4.5681	0.12196	0.0:0.2211:0.0:0.7789	.	153;153	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	A	153	ENSP00000252669:V153A	ENSP00000252669:V153A	V	+	2	0	ACSBG2	6107513	1.000000	0.71417	0.892000	0.35008	0.963000	0.63663	5.382000	0.66213	2.251000	0.74343	0.528000	0.53228	GTG		0.468	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		136	515	0	0	0	1	0	136	515					C	6156513	T	C	6156513	3	2	79	1	0	0	0	0	1	0	0	0	174	1696	59	4	472	4	ACSBG2	19	6156513	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	114396	6156513	52972470	18442	28759											
ACSBG2	81616	broad.mit.edu	37	chr19	6185467	6185467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcaagatcttgactgGgtgtaagaatatgctgttcc	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6185467G>A	ENST00000586696.1	+	11	1619	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E	ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000588304.1_Missense_Mutation_p.G398E|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	448					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCTTGACTGGGTGTAAGAAT	0.527																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1192-1194)gGg>gAg		acyl-CoA synthetase bubblegum family member 2							230	214	219					19																	6185467		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6185467G>A		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1343G>A	19.37:g.6185467G>A	ENSP00000465589:p.Gly448Glu					ACSBG2_ENST00000591403.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.G448E|ACSBG2_ENST00000586696.1_Missense_Mutation_p.G448E|ACSBG2_ENST00000588485.1_Missense_Mutation_p.G261E	p.G398E			Q5FVE4	ACBG2_HUMAN			11	1639	+			448					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.1193G>A	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517510	0.64634	.	.	ENSG00000130377	ENST00000252669	T	0.15487	2.42	4.76	4.76	0.60689	AMP-dependent synthetase/ligase (1);	0.000000	0.44483	D	0.000445	T	0.48314	0.1493	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.58132	-0.7690	10	0.72032	D	0.01	-22.657	16.3481	0.83151	0.0:0.0:1.0:0.0	.	448;448	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	E	448	ENSP00000252669:G448E	ENSP00000252669:G448E	G	+	2	0	ACSBG2	6136467	1.000000	0.71417	0.555000	0.28281	0.355000	0.29361	6.292000	0.72725	2.208000	0.71279	0.555000	0.69702	GGG		0.527	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		219	1082	0	0	0	1	0	219	1082					A	6185467	G	A	6185467	3	1	79	1	0	0	0	0	1	0	0	0	174	1232	43	2	1381	2	ACSBG2	19	6185467	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28954	6185467	52943516	18443	28760											
MLLT1	4298	broad.mit.edu	37	chr19	6213122	6213122	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgtccagggagaagaggtcGaagtcgaaggtggtgttggt	18	5	0	2	rs143086360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213122G>A	ENST00000252674.7	-	12	1774	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'Flank	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	537					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAAGAGGTCGAAGTCGAAGG	0.637			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1609-1611)ttC>ttT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1				3,4403	6.2+/-15.9	0,3,2200	172	155	161		1611	-5.8	0.9	19	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MLLT1	NM_005934.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		537/560	6213122	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213122G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1611C>T	19.37:g.6213122G>A							p.F537F	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			12	1774	-			537					Q14768	Silent	SNP	ENST00000252674.7	37	c.1611C>T	CCDS12160.1																																																																																				0.637	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		105	563	0	0	0	1	0	105	563					A	6213122	G	A	6213122	2	1	79	1	0	0	0	0	0	0	0	1	9666	1049	37	1		1	MLLT1	19	6213122	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27655	6213122	52915861	18444	28761											
MLLT1	4298	broad.mit.edu	37	chr19	6213356	6213356	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggggcgatacctgctgcaGcacgttgcgctcccgcagcg	16	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213356G>A	ENST00000252674.7	-	11	1706	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	515					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGCTGCAGCACGTTGCGC	0.721			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1543-1545)Ctg>Ttg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							53	63	60					19																	6213356		2202	4297	6499	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213356G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1543C>T	19.37:g.6213356G>A						MLLT1_ENST00000585588.1_5'UTR	p.L515L	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			11	1706	-			515					Q14768	Silent	SNP	ENST00000252674.7	37	c.1543C>T	CCDS12160.1																																																																																				0.721	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		165	752	0	0	0	1	0	165	752					A	6213356	G	A	6213356	2	1	79	1	0	0	0	0	0	0	0	1	9666	962	34	2		2	MLLT1	19	6213356	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	6213356	52915627	18445	28762											
MLLT1	4298	broad.mit.edu	37	chr19	6213743	6213743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcccccccaccttgtcGtaggtgcccttcttgaggat	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213743G>A	ENST00000252674.7	-	10	1636	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y	CTC-503J8.6_ENST00000586154.1_lincRNA|MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	491					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCACCTTGTCGTAGGTGCCCT	0.667			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(1471-1473)taC>taT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							85	81	82					19																	6213743		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6213743G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.1473C>T	19.37:g.6213743G>A						MLLT1_ENST00000585588.1_5'UTR	p.Y491Y	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			10	1636	-			491					Q14768	Silent	SNP	ENST00000252674.7	37	c.1473C>T	CCDS12160.1																																																																																				0.667	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		90	448	0	0	0	1	0	90	448					A	6213743	G	A	6213743	2	1	79	1	0	0	0	0	0	0	0	1	9666	1140	40	1		1	MLLT1	19	6213743	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	387	6213743	52915240	18446	28763											
MLLT1	4298	broad.mit.edu	37	chr19	6222534	6222534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctccttgggcagccgGccctcgcccagcttccgcga	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6222534G>A	ENST00000252674.7	-	6	871	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	236					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGGGCAGCCGGCCCTCGCCCA	0.642			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(706-708)ggC>ggT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							33	32	33					19																	6222534		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222534G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.708C>T	19.37:g.6222534G>A							p.G236G	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			6	871	-			236					Q14768	Silent	SNP	ENST00000252674.7	37	c.708C>T	CCDS12160.1																																																																																				0.642	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		42	142	0	0	0	1	0	42	142					A	6222534	G	A	6222534	2	1	79	1	0	0	0	0	0	0	0	1	9666	1190	42	2		2	MLLT1	19	6222534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8791	6222534	52906449	18447	28764											
MLLT1	4298	broad.mit.edu	37	chr19	6270647	6270647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaccttctccacgaagtGctggatgtcacattgctcgg	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6270647G>A	ENST00000252674.7	-	2	299	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	46	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCCACGAAGTGCTGGATGTCA	0.637			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(136-138)Cac>Tac		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1							114	90	98					19																	6270647		2203	4300	6503	SO:0001583	missense	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270647G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.136C>T	19.37:g.6270647G>A	ENSP00000252674:p.His46Tyr		OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.H46Y	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			2	299	-			46			YEATS.		Q14768	Missense_Mutation	SNP	ENST00000252674.7	37	c.136C>T	CCDS12160.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889490	0.91889	.	.	ENSG00000130382	ENST00000252674	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	N	0.05510	-0.035	0.80722	D	1	B	0.22541	0.071	B	0.37304	0.246	T	0.49835	-0.8897	9	0.49607	T	0.09	-34.6303	16.6911	0.85322	0.0:0.0:1.0:0.0	.	46	Q03111	ENL_HUMAN	Y	46	.	ENSP00000252674:H46Y	H	-	1	0	MLLT1	6221647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.751000	0.98889	2.537000	0.85549	0.561000	0.74099	CAC		0.637	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		45	233	0	0	0	1	0	45	233					A	6270647	G	A	6270647	3	1	79	1	0	0	0	0	1	0	0	0	9666	1319	46	2	1587	2	MLLT1	19	6270647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48113	6270647	52858336	18448	28765											
ACER1	125981	broad.mit.edu	37	chr19	6309846	6309846	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcggatgaactgggacCtggggaggaaggggctcagc	19	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6309846C>A	ENST00000301452.4	-	4	428		c.e4-1			NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1						cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAACTGGGACCTGGGGAGGAA	0.612																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.e4-1		alkaline ceramidase 1							84	64	71					19																	6309846		2203	4300	6503	SO:0001630	splice_region_variant	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6309846C>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"Alkaline ceramidase"	18356	protein-coding gene	gene with protein product		613491	"N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.351-1G>T	19.37:g.6309846C>A								NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			4	428	-									Splice_Site	SNP	ENST00000301452.4	37		CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641999	0.47153	.	.	ENSG00000167769	ENST00000301452	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2007	0.65703	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACER1	6260846	1.000000	0.71417	0.152000	0.22495	0.017000	0.09413	6.473000	0.73572	1.947000	0.56498	0.542000	0.68232	.		0.612	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492	Intron	46	192	1	0	2.64894e-19	1	2.95328e-19	46	192					A	6309846	C	A	6309846	5	1	79	1	0	0	0	0	0	0	1	0	138	695	24	3	456	3	ACER1	19	6309846	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39199	6309846	52819137	18449	28766											
GTF2F1	2962	broad.mit.edu	37	chr19	6389591	6389591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcactgcccgcgcccgattCgggcatctcctcctcttggt	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6389591C>T	ENST00000394456.5	-	4	654	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	64					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						GCGCCCGATTCGGGCATCTCC	0.612																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(190-192)Gaa>Aaa		general transcription factor IIF, polypeptide 1, 74kDa							131	137	135					19																	6389591		2203	4300	6503	SO:0001583	missense	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389591C>T		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.190G>A	19.37:g.6389591C>T	ENSP00000377969:p.Glu64Lys					GTF2F1_ENST00000429701.2_Missense_Mutation_p.E36K|CTB-180A7.6_ENST00000599584.1_RNA	p.E64K	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			4	654	-			64					B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	c.190G>A	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030796	0.19590	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045;ENST00000543921;ENST00000541263	T;T	0.46451	0.87;0.87	5.43	4.39	0.52855	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.053321	0.64402	D	0.000001	T	0.40247	0.1109	L	0.39514	1.22	0.58432	D	0.999998	B;B	0.34329	0.121;0.449	B;B	0.41571	0.051;0.36	T	0.12811	-1.0533	10	0.19590	T	0.45	-44.0396	15.1046	0.72310	0.0:0.8573:0.1427:0.0	.	36;64	E7EUG6;P35269	.;T2FA_HUMAN	K	64;36;124;37;64	ENSP00000377969:E64K;ENSP00000392107:E36K	ENSP00000377969:E64K	E	-	1	0	GTF2F1	6340591	1.000000	0.71417	0.826000	0.32828	0.013000	0.08279	5.432000	0.66514	1.283000	0.44513	-0.176000	0.13171	GAA		0.612	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		111	1045	0	0	0	1	0	111	1045					T	6389591	C	T	6389591	3	4	79	1	0	0	0	0	1	0	0	0	6888	893	31	1	1403	1	GTF2F1	19	6389591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	79745	6389591	52739392	18450	28767											
SLC25A41	8570	broad.mit.edu	37	chr19	6426528	6426528	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgctgggccaggatccGctggaggactccgcgcatgg	16	14	0	0	rs200583733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6426528G>A	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.R329W	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GCCAGGATCCGCTGGAGGACT	0.612																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(985-987)Cgg>Tgg		solute carrier family 25, member 41		G	TRP/ARG	0,4102		0,0,2051	76	78	78		985	-9.2	0	19		78	1,8381		0,1,4190	yes	missense	SLC25A41	NM_173637.3	101	0,1,6241	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	329/371	6426528	1,12483	2051	4191	6242	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6426528G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426528G>A	Exception_encountered						p.R329W	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			7	1053	-			329					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.985C>T	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221956	0.39300	0.0	1.19E-4	ENSG00000181240	ENST00000321510	T	0.80033	-1.33	4.59	-9.17	0.00691	Mitochondrial carrier domain (2);	.	.	.	.	T	0.80523	0.4639	M	0.65498	2.005	0.09310	N	0.999994	D	0.61080	0.989	P	0.55303	0.773	T	0.78226	-0.2286	9	0.72032	D	0.01	-3.5865	8.0935	0.30813	0.0643:0.0784:0.2695:0.5878	.	329	Q8N5S1	S2541_HUMAN	W	329	ENSP00000322649:R329W	ENSP00000322649:R329W	R	-	1	2	SLC25A41	6377528	0.001000	0.12720	0.000000	0.03702	0.186000	0.23388	-0.176000	0.09811	-1.904000	0.01092	-0.457000	0.05445	CGG		0.612	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			92	369	0	0	0	1	0	92	369					A	6426528	G	A	6426528	1	1	79	0	1	0	0	0	0	0	0	0	14556	1086	38	1		1	SLC25A41	19	6426528	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36937	6426528	52702455	18451	28768											
SLC25A41	8570	broad.mit.edu	37	chr19	6427420	6427420	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtagccgcggtaaagggcGcgggtgccctctcgctgcaa	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6427420G>A	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Silent_p.R239R	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGTAAAGGGCGCGGGTGCCCT	0.637																																					Colon(55;593 1006 2067 9135 22980)	ENST00000321510.6																			0				large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(715-717)cgC>cgT		solute carrier family 25, member 41							28	35	33					19																	6427420		2197	4297	6494	SO:0001631	upstream_gene_variant	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6427420G>A	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427420G>A	Exception_encountered						p.R239R	NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN			5	785	-			239					O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.717C>T	CCDS45936.1																																																																																				0.637	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			16	94	0	0	0	1	0	16	94					A	6427420	G	A	6427420	1	1	79	0	1	0	0	0	0	0	0	0	14556	1074	38	1		1	SLC25A41	19	6427420	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892	6427420	52701563	18452	28769											
DENND1C	79958	broad.mit.edu	37	chr19	6467822	6467822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagtggagagccagggaGtggggttttcctgggctgta	19	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6467822G>A	ENST00000381480.2	-	23	2211	c.2099C>T	c.(2098-2100)aCt>aTt	p.T700I	DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	700					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						GAGCCAGGGAGTGGGGTTTTC	0.582																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(2098-2100)aCt>aTt		DENN/MADD domain containing 1C							23	24	24					19																	6467822		1886	4105	5991	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6467822G>A	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.2099C>T	19.37:g.6467822G>A	ENSP00000370889:p.Thr700Ile					DENND1C_ENST00000543576.1_Missense_Mutation_p.T656I	p.T700I	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			23	2211	-			700					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.2099C>T	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313910	0.23908	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.09911	3.1;2.93	4.47	-1.97	0.07503	.	2.337440	0.02089	N	0.053003	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31861	-0.9928	10	0.21014	T	0.42	0.0155	1.2983	0.02074	0.1571:0.2981:0.3339:0.2108	.	700	Q8IV53	DEN1C_HUMAN	I	700;656	ENSP00000370889:T700I;ENSP00000437805:T656I	ENSP00000370889:T700I	T	-	2	0	DENND1C	6418822	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.095000	0.11077	0.112000	0.17975	0.298000	0.19748	ACT		0.582	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		32	76	0	0	0	1	0	32	76					A	6467822	G	A	6467822	3	1	79	1	0	0	0	0	1	0	0	0	4444	1029	36	2	310	2	DENND1C	19	6467822	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40402	6467822	52661161	18453	28770											
DENND1C	79958	broad.mit.edu	37	chr19	6479048	6479048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaaggtgaaatgctgcaCggcggggctggggggctccc	20	10	0	1	rs375158491		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6479048C>T	ENST00000381480.2	-	5	308	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	66	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V66L(1)|p.V92L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAATGCTGCACGGCGGGGCTG	0.632																																						ENST00000381480.2																			2	Substitution - Missense(2)	p.V66L(1)|p.V92L(1)	lung(2)	endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(196-198)Gtg>Atg		DENN/MADD domain containing 1C		C	MET/VAL	1,3867		0,1,1933	49	60	57		196	5.2	0	19		57	1,8261		0,1,4130	no	missense	DENND1C	NM_024898.2	21	0,2,6063	TT,TC,CC		0.0121,0.0259,0.0165	probably-damaging	66/802	6479048	2,12128	1934	4131	6065	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6479048C>T	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.196G>A	19.37:g.6479048C>T	ENSP00000370889:p.Val66Met					DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.V22M	p.V66M	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			5	308	-			66			UDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.196G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698972	0.68501	2.59E-4	1.21E-4	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.42513	0.97;0.97	5.24	5.24	0.73138	uDENN (3);	0.704654	0.13525	N	0.381405	T	0.66713	0.2817	M	0.80422	2.495	0.21697	N	0.999583	D	0.76494	0.999	D	0.67725	0.953	T	0.60244	-0.7301	10	0.52906	T	0.07	-14.6092	16.2903	0.82747	0.0:1.0:0.0:0.0	.	66	Q8IV53	DEN1C_HUMAN	M	66;22	ENSP00000370889:V66M;ENSP00000437805:V22M	ENSP00000370889:V66M	V	-	1	0	DENND1C	6430048	0.894000	0.30519	0.025000	0.17156	0.826000	0.46750	5.660000	0.68018	2.459000	0.83118	0.313000	0.20887	GTG		0.632	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		101	447	0	0	0	1	0	101	447					T	6479048	C	T	6479048	3	4	79	1	0	0	0	0	1	0	0	0	4444	536	19	1	2285	1	DENND1C	19	6479048	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11226	6479048	52649935	18454	28771											
TUBB4	10382	broad.mit.edu	37	chr19	6495205	6495205	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctcctccgcctcctcctcGaactcgccctcctcggccgt	6	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6495205G>A	ENST00000264071.2	-	4	1676	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.F435F|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	435					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CCTCCTCCTCGAACTCGCCCT	0.622																																						ENST00000264071.2																			0											c.(1303-1305)ttC>ttT		tubulin, beta 4A class IVa							72	66	68					19																	6495205		2203	4300	6503	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495205G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1305C>T	19.37:g.6495205G>A						TUBB4A_ENST00000540257.1_Silent_p.F435F	p.F435F			P04350	TBB4_HUMAN			4	1676	-			435					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.1305C>T	CCDS12168.1																																																																																				0.622	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		100	426	0	0	0	1	0	100	426					A	6495205	G	A	6495205	2	1	79	1	0	0	0	0	0	0	0	1	16812	1049	37	1		1	TUBB4	19	6495205	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16157	6495205	52633778	18455	28772											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		12	436						12	436	---	---	---	---	-	6531151	GCT	-	6531149	7	5	79	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-IB-7651-01A-11D-2154-08	35944	6531149	52597834	18456	28773											
TNFSF9	8744	broad.mit.edu	37	chr19	6534897	6534897	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgaggctcggaactcGgccttcggtttccagggccg	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6534897G>A	ENST00000245817.3	+	3	623	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	195					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						CTCGGAACTCGGCCTTCGGTT	0.692																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(583-585)tcG>tcA		tumor necrosis factor (ligand) superfamily, member 9							14	17	16					19																	6534897		2186	4283	6469	SO:0001819	synonymous_variant	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6534897G>A	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.585G>A	19.37:g.6534897G>A							p.S195S	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			3	623	+			195					Q2M3S2	Silent	SNP	ENST00000245817.3	37	c.585G>A	CCDS12169.1																																																																																				0.692	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		36	84	0	0	0	1	0	36	84					A	6534897	G	A	6534897	2	1	79	1	0	0	0	0	0	0	0	1	16364	1103	39	1		1	TNFSF9	19	6534897	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3748	6534897	52594086	18457	28774											
TNFSF14	8740	broad.mit.edu	37	chr19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcatccagcacacggaCgaccaccttctccccagcct	7	19	2	0	rs202048657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6665011C>T	ENST00000599359.1	-	5	1030	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.V181I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17279	0.001		0.0	False		,,,				2504	0.0					ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(541-543)Gtc>Atc		tumor necrosis factor (ligand) superfamily, member 14							158	129	139					19																	6665011		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6665011C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.649G>A	19.37:g.6665011C>T	ENSP00000469049:p.Val217Ile					TNFSF14_ENST00000599359.1_Missense_Mutation_p.V217I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	p.V181I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	922	-			217					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.541G>A	CCDS12171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.373441	0.42105	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.37411	1.2	4.46	3.42	0.39159	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.083570	0.47093	D	0.000244	T	0.31327	0.0793	L	0.46741	1.465	0.32364	N	0.556802	P;P	0.50943	0.94;0.861	B;B	0.42361	0.385;0.095	T	0.49143	-0.8970	10	0.51188	T	0.08	-2.5432	10.7358	0.46124	0.0:0.9045:0.0:0.0955	.	217;181	O43557;O43557-2	TNF14_HUMAN;.	I	217;181	ENSP00000326940:V181I	ENSP00000245912:V217I	V	-	1	0	TNFSF14	6616011	0.991000	0.36638	0.620000	0.29132	0.457000	0.32468	3.191000	0.50981	2.038000	0.60285	0.561000	0.74099	GTC		0.622	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			100	504	0	0	0	1	0	100	504					T	6665011	C	T	6665011	3	4	79	1	0	0	0	0	1	0	0	0	16359	536	19	1	77	1	TNFSF14	19	6665011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130114	6665011	52463972	18458	28775											
C3	718	broad.mit.edu	37	chr19	6684416	6684416	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tacctggtacagatctcaagGatcatagtgttcttggcatc	9	9	3	1	rs563352895	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684416G>T	ENST00000245907.6	-	33	4247	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					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)	AGATCTCAAGGATCATAGTGT	0.453																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4153-4155)atC>atA		complement component 3							140	140	140					19																	6684416		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684416G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4155C>A	19.37:g.6684416G>T							p.I1385I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	33	4247	-			1385					A7E236	Silent	SNP	ENST00000245907.6	37	c.4155C>A	CCDS32883.1																																																																																				0.453	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		101	514	1	0	5.10254e-61	1	6.42204e-61	101	514					T	6684416	G	T	6684416	2	4	79	1	0	0	0	0	0	0	0	1	2211	1164	41	3		3	C3	19	6684416	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19405	6684416	52444567	18459	28776											
C3	718	broad.mit.edu	37	chr19	6684598	6684598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggtgctggttttatggtgaCcttgaggtcgaatttattac	12	6	0	2	rs74722736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684598C>A	ENST00000245907.6	-	32	4185	c.4093G>T	c.(4093-4095)Gtc>Ttc	p.V1365F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1365					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)	TTTATGGTGACCTTGAGGTCG	0.478																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4093-4095)Gtc>Ttc		complement component 3							285	244	258					19																	6684598		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684598C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4093G>T	19.37:g.6684598C>A	ENSP00000245907:p.Val1365Phe						p.V1365F	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	32	4185	-			1365					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4093G>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669874	0.67814	.	.	ENSG00000125730	ENST00000245907	T	0.35236	1.32	5.41	4.37	0.52481	Alpha-macroglobulin, receptor-binding (2);	0.126503	0.52532	D	0.000067	T	0.65144	0.2663	M	0.91038	3.17	0.18873	N	0.999985	D	0.89917	1.0	D	0.72338	0.977	T	0.62338	-0.6875	10	0.56958	D	0.05	.	12.0112	0.53289	0.0:0.9154:0.0:0.0846	.	1365	P01024	CO3_HUMAN	F	1365	ENSP00000245907:V1365F	ENSP00000245907:V1365F	V	-	1	0	C3	6635598	0.348000	0.24861	0.020000	0.16555	0.214000	0.24535	2.073000	0.41519	1.413000	0.46997	0.580000	0.79431	GTC		0.478	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		115	516	1	0	4.25972e-66	1	5.38874e-66	115	516					A	6684598	C	A	6684598	3	1	79	1	0	0	0	0	1	0	0	0	2211	507	18	3	938	3	C3	19	6684598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	182	6684598	52444385	18460	28777											
C3	718	broad.mit.edu	37	chr19	6686219	6686219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaagtcaaagtcttttagCtgcagtagggccaagagggc	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6686219C>T	ENST00000245907.6	-	29	3818	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1242					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)	AGTCTTTTAGCTGCAGTAGGG	0.547																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3724-3726)caG>caA		complement component 3							229	211	217					19																	6686219		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6686219C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3726G>A	19.37:g.6686219C>T							p.Q1242Q	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	29	3818	-			1242					A7E236	Silent	SNP	ENST00000245907.6	37	c.3726G>A	CCDS32883.1																																																																																				0.547	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		223	890	0	0	0	1	0	223	890					T	6686219	C	T	6686219	2	4	79	1	0	0	0	0	0	0	0	1	2211	796	28	2		2	C3	19	6686219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1621	6686219	52442764	18461	28778											
C3	718	broad.mit.edu	37	chr19	6694466	6694466	+	Missense_Mutation	SNP	C	C	T													cttgatgagctccaaggcccCctgccgcttctctaggccga					rs146026441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694466C>T	ENST00000245907.6	-	24	3222	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1044					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)	TCCAAGGCCCCCTGCCGCTTC	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3130-3132)Ggg>Agg		complement component 3							97	76	83					19																	6694466		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694466C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3130G>A	19.37:g.6694466C>T	ENSP00000245907:p.Gly1044Arg						p.G1044R	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3222	-			1044					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3130G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	6.937	0.542636	0.13250	.	.	ENSG00000125730	ENST00000245907	T	0.34859	1.34	5.76	1.07	0.20283	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.658785	0.16479	N	0.212637	T	0.12008	0.0292	N	0.02225	-0.63	0.09310	N	1	B	0.32968	0.392	B	0.27887	0.084	T	0.16276	-1.0408	10	0.38643	T	0.18	.	5.8472	0.18673	0.0:0.5259:0.2595:0.2146	.	1044	P01024	CO3_HUMAN	R	1044	ENSP00000245907:G1044R	ENSP00000245907:G1044R	G	-	1	0	C3	6645466	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.841000	0.27613	0.062000	0.16340	0.650000	0.86243	GGG		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		56	313	0	0	0	1	0	56	313					T	6694466	C	T	6694466	3	4	79	1	0	0	0	0	1	0	0	0	2211	623	22	2	1933	2	C3	19	6694466	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8247	6694466	52434517	18462	28779	183	2									
C3	718	broad.mit.edu	37	chr19	6694476	6694476	+	Missense_Mutation	SNP	C	C	A													tccaaggccccctgccgcttCtctaggccgaacttctccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694476C>A	ENST00000245907.6	-	24	3212	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1040					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)	CCTGCCGCTTCTCTAGGCCGA	0.622																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3118-3120)gaG>gaT		complement component 3							108	84	92					19																	6694476		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6694476C>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3120G>T	19.37:g.6694476C>A	ENSP00000245907:p.Glu1040Asp						p.E1040D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	24	3212	-			1040					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3120G>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	0.339	-0.951487	0.02285	.	.	ENSG00000125730	ENST00000245907	T	0.38401	1.14	5.76	-2.6	0.06190	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.649357	0.16985	N	0.191542	T	0.18257	0.0438	L	0.31804	0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.25751	T	0.34	.	3.7554	0.08584	0.101:0.2922:0.3974:0.2094	.	1040	P01024	CO3_HUMAN	D	1040	ENSP00000245907:E1040D	ENSP00000245907:E1040D	E	-	3	2	C3	6645476	0.000000	0.05858	0.164000	0.22755	0.039000	0.13416	-1.638000	0.02013	-0.149000	0.11215	-0.142000	0.14014	GAG		0.622	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		63	328	1	0	3.13296e-38	1	3.77304e-38	63	328					A	6694476	C	A	6694476	3	1	79	1	0	0	0	0	1	0	0	0	2211	912	32	3	1943	3	C3	19	6694476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10	6694476	52434507	18463	28780	183	2									
C3	718	broad.mit.edu	37	chr19	6696635	6696635	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgttctggatccagggtgcgAacagccacagttttgttcat	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6696635A>C	ENST00000245907.6	-	22	2924	c.2832T>G	c.(2830-2832)gtT>gtG	p.V944V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	944					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)	CCAGGGTGCGAACAGCCACAG	0.567																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2830-2832)gtT>gtG		complement component 3							167	161	163					19																	6696635		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6696635A>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2832T>G	19.37:g.6696635A>C							p.V944V	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	22	2924	-			944					A7E236	Silent	SNP	ENST00000245907.6	37	c.2832T>G	CCDS32883.1																																																																																				0.567	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		232	1146	0	0	0	1	0	232	1146					C	6696635	A	C	6696635	2	2	79	1	0	0	0	0	0	0	0	1	2211	233	9	4		4	C3	19	6696635	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2159	6696635	52432348	18464	28781											
C3	718	broad.mit.edu	37	chr19	6712565	6712565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtacttgggtgtcttgGtgaagtggatctggtaggga	17	3	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6712565G>A	ENST00000245907.6	-	10	1165	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	358					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)	GGGTGTCTTGGTGAAGTGGAT	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1072-1074)aCc>aTc		complement component 3							257	229	239					19																	6712565		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6712565G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1073C>T	19.37:g.6712565G>A	ENSP00000245907:p.Thr358Ile						p.T358I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	10	1165	-			358					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1073C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824585	0.71143	.	.	ENSG00000125730	ENST00000245907	T	0.31769	1.48	5.13	5.13	0.70059	.	0.153860	0.56097	D	0.000025	T	0.55401	0.1918	M	0.84082	2.675	0.31171	N	0.703253	D	0.89917	1.0	D	0.77557	0.99	T	0.60301	-0.7290	10	0.24483	T	0.36	.	13.1534	0.59503	0.0:0.1611:0.8389:0.0	.	358	P01024	CO3_HUMAN	I	358	ENSP00000245907:T358I	ENSP00000245907:T358I	T	-	2	0	C3	6663565	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.349000	0.44054	2.392000	0.81423	0.561000	0.74099	ACC		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		69	857	0	0	0	1	0	69	857					A	6712565	G	A	6712565	3	1	79	1	0	0	0	0	1	0	0	0	2211	1261	44	2	4046	2	C3	19	6712565	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15930	6712565	52416418	18465	28782											
GPR108	56927	broad.mit.edu	37	chr19	6732321	6732321	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctccttatccgacaGgacgtacttgatgaaggccc	8	13	2	2	rs202152370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6732321G>A	ENST00000264080.7	-	12	1104	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.L118L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	360						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTATCCGACAGGACGTACTTG	0.617																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(1078-1080)Ctg>Ttg		G protein-coupled receptor 108							60	64	62					19																	6732321		2098	4212	6310	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6732321G>A		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1078C>T	19.37:g.6732321G>A						GPR108_ENST00000430424.4_Silent_p.L118L	p.L360L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			12	1104	-			360					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.1078C>T	CCDS42479.1																																																																																				0.617	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			94	393	0	0	0	1	0	94	393					A	6732321	G	A	6732321	2	1	79	1	0	0	0	0	0	0	0	1	6653	991	35	2		2	GPR108	19	6732321	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19756	6732321	52396662	18466	28783											
GPR108	56927	broad.mit.edu	37	chr19	6733016	6733016	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acgctgtggaagaggagagaGatgctcttggtgaaggccaa	16	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733016G>T	ENST00000264080.7	-	10	941	c.915C>A	c.(913-915)atC>atA	p.I305I	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Silent_p.I63I	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	305						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGAGGAGAGAGATGCTCTTGG	0.647																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(913-915)atC>atA		G protein-coupled receptor 108							17	20	19					19																	6733016		1993	4157	6150	SO:0001819	synonymous_variant	56927					integral to membrane		g.chr19:6733016G>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.915C>A	19.37:g.6733016G>T						GPR108_ENST00000430424.4_Silent_p.I63I	p.I305I	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			10	941	-			305					B9EJD7	Silent	SNP	ENST00000264080.7	37	c.915C>A	CCDS42479.1																																																																																				0.647	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			10	73	1	0	0.000442599	1	0.000448314	10	73					T	6733016	G	T	6733016	2	4	79	1	0	0	0	0	0	0	0	1	6653	932	33	3		3	GPR108	19	6733016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	695	6733016	52395967	18467	28784											
GPR108	56927	broad.mit.edu	37	chr19	6733205	6733205	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgcagaggatggacacccaGaagatgccagcggccaggaa	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733205G>T	ENST00000264080.7	-	9	857	c.831C>A	c.(829-831)ttC>ttA	p.F277L	GPR108_ENST00000598626.1_5'Flank|GPR108_ENST00000430424.4_Missense_Mutation_p.F35L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	277						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGACACCCAGAAGATGCCAG	0.622																																						ENST00000264080.7																			0				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						c.(829-831)ttC>ttA		G protein-coupled receptor 108							59	69	65					19																	6733205		2132	4231	6363	SO:0001583	missense	56927					integral to membrane		g.chr19:6733205G>T		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"GPCR / Unclassified : 7TM orphan receptors"	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.831C>A	19.37:g.6733205G>T	ENSP00000264080:p.Phe277Leu					GPR108_ENST00000430424.4_Missense_Mutation_p.F35L	p.F277L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN			9	857	-			277					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.831C>A	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.795685	0.31777	.	.	ENSG00000125734	ENST00000264080;ENST00000430424;ENST00000552585	T	0.19105	2.17	3.88	0.287	0.15714	.	0.226362	0.28036	U	0.016848	T	0.08846	0.0219	N	0.16368	0.405	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.21042	-1.0257	10	0.19147	T	0.46	-12.1953	2.8266	0.05487	0.3384:0.0:0.4603:0.2013	.	277	Q9NPR9	GP108_HUMAN	L	277;35;35	ENSP00000264080:F277L	ENSP00000264080:F277L	F	-	3	2	GPR108	6684205	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	0.852000	0.27764	0.419000	0.25927	0.561000	0.74099	TTC		0.622	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			95	425	1	0	7.59261e-44	1	9.28096e-44	95	425					T	6733205	G	T	6733205	3	4	79	1	0	0	0	0	1	0	0	0	6653	933	33	3	840	3	GPR108	19	6733205	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	6733205	52395778	18468	28785											
TRIP10	9322	broad.mit.edu	37	chr19	6751138	6751138	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcttatggaagaagacaaAggggacggctggacccgggt	16	7	1	2	rs3210156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751138A>C	ENST00000313244.9	+	15	1757	c.1722A>C	c.(1720-1722)aaA>aaC	p.K574N	TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|TRIP10_ENST00000600428.1_Missense_Mutation_p.K410N|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	574	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						AAGAAGACAAAGGGGACGGCT	0.617																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(1228-1230)aaA>aaC		thyroid hormone receptor interactor 10							62	70	67					19																	6751138		2203	4300	6503	SO:0001583	missense	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6751138A>C	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.1722A>C	19.37:g.6751138A>C	ENSP00000320117:p.Lys574Asn					CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Missense_Mutation_p.K518N|TRIP10_ENST00000596758.1_Missense_Mutation_p.K528T|TRIP10_ENST00000313244.9_Missense_Mutation_p.K574N	p.K410N			Q15642	CIP4_HUMAN			14	1876	+			574			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37	c.1230A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.93|17.93	3.508009|3.508009	0.64410|0.64410	.|.	.|.	ENSG00000125733|ENSG00000125733	ENST00000313285;ENST00000313244|ENST00000420690	T;T|.	0.45276|.	0.9;0.9|.	4.74|4.74	-0.401|-0.401	0.12407|0.12407	Src homology-3 domain (4);|.	0.270973|0.270973	0.36134|0.36134	N|N	0.002772|0.002772	T|T	0.37598|0.37598	0.1009|0.1009	L|L	0.31207|0.31207	0.915|0.915	0.50171|0.50171	D|D	0.999853|0.999853	D;D|P	0.89917|0.39250	0.991;1.0|0.665	D;D|B	0.91635|0.39805	0.991;0.999|0.31	T|T	0.17048|0.17048	-1.0382|-1.0382	10|9	0.87932|0.87932	D|D	0|0	-25.5666|-25.5666	8.7794|8.7794	0.34783|0.34783	0.6617:0.0:0.3383:0.0|0.6617:0.0:0.3383:0.0	.|.	574;518|528	Q15642;Q15642-2|G5E9U1	CIP4_HUMAN;.|.	N|T	518;574|528	ENSP00000320493:K518N;ENSP00000320117:K574N|.	ENSP00000320117:K574N|ENSP00000415493:K528T	K|K	+|+	3|2	2|0	TRIP10|TRIP10	6702138|6702138	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.957000|0.957000	0.61999|0.61999	0.858000|0.858000	0.27845|0.27845	-0.116000|-0.116000	0.11893|0.11893	0.254000|0.254000	0.18369|0.18369	AAA|AAG		0.617	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			107	511	0	0	0	1	0	107	511					C	6751138	A	C	6751138	3	2	79	1	0	0	0	0	1	0	0	0	16607	69	3	4	1608	4	TRIP10	19	6751138	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	17933	6751138	52377845	18469	28786											
SH2D3A	10045	broad.mit.edu	37	chr19	6754363	6754363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaccagtcccctcagtgCggctgcgcgctcctccagcg	10	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754363C>T	ENST00000245908.6	-	7	1440	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	391					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						CCCCTCAGTGCGGCTGCGCGC	0.751																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(1171-1173)Gca>Aca		SH2 domain containing 3A							4	6	5					19																	6754363		1867	3774	5641	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754363C>T	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.1171G>A	19.37:g.6754363C>T	ENSP00000245908:p.Ala391Thr					SH2D3A_ENST00000437152.3_Missense_Mutation_p.A269T	p.A391T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			7	1440	-			391					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.1171G>A	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	1.228	-0.624921	0.03636	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28666	1.62;1.6	4.9	1.3	0.21679	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.450276	0.18831	N	0.129962	T	0.06735	0.0172	N	0.01352	-0.895	0.25151	N	0.990424	B;B	0.27450	0.179;0.013	B;B	0.15484	0.013;0.011	T	0.27434	-1.0074	10	0.09338	T	0.73	-1.1375	2.6013	0.04867	0.2148:0.3824:0.0:0.4028	.	269;391	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	391;269	ENSP00000245908:A391T;ENSP00000393303:A269T	ENSP00000245908:A391T	A	-	1	0	SH2D3A	6705363	0.001000	0.12720	0.991000	0.47740	0.226000	0.24999	0.199000	0.17237	0.486000	0.27676	0.462000	0.41574	GCA		0.751	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		7	40	0	0	0	1	0	7	40					T	6754363	C	T	6754363	3	4	79	1	0	0	0	0	1	0	0	0	14283	768	27	1	575	1	SH2D3A	19	6754363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3225	6754363	52374620	18470	28787											
SH2D3A	10045	broad.mit.edu	37	chr19	6754423	6754423	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcgccccggccagcgCcagtgtctgatgcctgcaga	13	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754423C>T	ENST00000245908.6	-	7	1380	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	371					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						CCGGCCAGCGCCAGTGTCTGA	0.706																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(1111-1113)Gcg>Acg		SH2 domain containing 3A							6	7	7					19																	6754423		1889	3802	5691	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754423C>T	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.1111G>A	19.37:g.6754423C>T	ENSP00000245908:p.Ala371Thr					SH2D3A_ENST00000437152.3_Missense_Mutation_p.A249T	p.A371T	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			7	1380	-			371					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.1111G>A	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770126	0.31320	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.28069	1.63;1.63	4.9	-0.11	0.13580	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.664405	0.13120	N	0.412262	T	0.22244	0.0536	L	0.46741	1.465	0.24090	N	0.995915	B;B	0.18166	0.026;0.001	B;B	0.17433	0.018;0.011	T	0.24261	-1.0165	10	0.54805	T	0.06	-4.4563	3.4267	0.07413	0.4298:0.3462:0.14:0.084	.	249;371	B4DRS7;Q9BRG2	.;SH23A_HUMAN	T	371;249	ENSP00000245908:A371T;ENSP00000393303:A249T	ENSP00000245908:A371T	A	-	1	0	SH2D3A	6705423	0.196000	0.23350	0.357000	0.25798	0.351000	0.29236	-0.189000	0.09629	-0.162000	0.10964	-0.448000	0.05591	GCG		0.706	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		14	66	0	0	0	1	0	14	66					T	6754423	C	T	6754423	3	4	79	1	0	0	0	0	1	0	0	0	14283	739	26	2	635	2	SH2D3A	19	6754423	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	6754423	52374560	18471	28788											
SH2D3A	10045	broad.mit.edu	37	chr19	6760689	6760689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgggccatccatcagggtgtCctcgctaaagctgcgtcgca	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6760689C>A	ENST00000245908.6	-	3	648	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	127					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						ATCAGGGTGTCCTCGCTAAAG	0.602																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(379-381)Gac>Tac		SH2 domain containing 3A							40	38	39					19																	6760689		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6760689C>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.379G>T	19.37:g.6760689C>A	ENSP00000245908:p.Asp127Tyr					SH2D3A_ENST00000437152.3_Intron|SH2D3A_ENST00000599563.1_5'UTR	p.D127Y	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			3	648	-			127					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.379G>T	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384192	0.25031	.	.	ENSG00000125731	ENST00000245908	T	0.16597	2.33	4.91	4.91	0.64330	.	0.151862	0.30126	N	0.010344	T	0.28200	0.0696	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	T	0.05550	-1.0878	10	0.02654	T	1	-19.2134	13.6482	0.62294	0.0:1.0:0.0:0.0	.	127	Q9BRG2	SH23A_HUMAN	Y	127	ENSP00000245908:D127Y	ENSP00000245908:D127Y	D	-	1	0	SH2D3A	6711689	0.899000	0.30636	0.998000	0.56505	0.559000	0.35586	2.484000	0.45242	2.598000	0.87819	0.549000	0.68633	GAC		0.602	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		28	111	1	0	4.59853e-10	1	4.86106e-10	28	111					A	6760689	C	A	6760689	3	1	79	1	0	0	0	0	1	0	0	0	14283	855	30	3	1383	3	SH2D3A	19	6760689	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6266	6760689	52368294	18472	28789											
VAV1	7409	broad.mit.edu	37	chr19	6820720	6820720	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcctcacagttcctgtGccttaagaacattagaacct	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6820720G>A	ENST00000602142.1	+	2	294	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y|VAV1_ENST00000304076.2_Missense_Mutation_p.C71Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	71	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Leu-rich.				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						CAGTTCCTGTGCCTTAAGAAC	0.557																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(211-213)tGc>tAc		vav 1 guanine nucleotide exchange factor							151	131	138					19																	6820720		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6820720G>A		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.212G>A	19.37:g.6820720G>A	ENSP00000472929:p.Cys71Tyr					VAV1_ENST00000602142.1_Missense_Mutation_p.C71Y|VAV1_ENST00000596764.1_Missense_Mutation_p.C71Y|VAV1_ENST00000599806.1_Missense_Mutation_p.C16Y|VAV1_ENST00000539284.1_Missense_Mutation_p.C6Y	p.C71Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			2	306	+			71			CH.|Leu-rich.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.212G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860052	0.71834	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.42131	0.98;0.98	4.76	4.76	0.60689	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;0.996;1.0	T	0.67209	-0.5728	10	0.87932	D	0	.	15.256	0.73585	0.0:0.0:1.0:0.0	.	6;71;16;71	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Y	71;6	ENSP00000302269:C71Y;ENSP00000443242:C6Y	ENSP00000302269:C71Y	C	+	2	0	VAV1	6771720	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	9.410000	0.97335	2.212000	0.71576	0.484000	0.47621	TGC		0.557	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			132	444	0	0	0	1	0	132	444					A	6820720	G	A	6820720	3	1	79	1	0	0	0	0	1	0	0	0	17185	1319	46	2	218	2	VAV1	19	6820720	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60031	6820720	52308263	18473	28790											
VAV1	7409	broad.mit.edu	37	chr19	6828154	6828154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctgatggtgcctatgcagcGagttctcaaatatcacctcc	9	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828154G>A	ENST00000602142.1	+	10	1077	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R332Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	332	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTATGCAGCGAGTTCTCAAA	0.552																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(994-996)cGa>cAa		vav 1 guanine nucleotide exchange factor							86	75	79					19																	6828154		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828154G>A		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.995G>A	19.37:g.6828154G>A	ENSP00000472929:p.Arg332Gln					VAV1_ENST00000602142.1_Missense_Mutation_p.R332Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R300Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R277Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R235Q	p.R332Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			10	1089	+			332			DH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.995G>A	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235768	0.79800	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;D	0.87729	-0.27;-2.29	4.5	4.5	0.54988	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	D	0.95338	0.8487	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.98;0.999;0.998;1.0	P;P;D;D	0.74348	0.676;0.894;0.983;0.983	D	0.96788	0.9580	10	0.87932	D	0	.	14.7102	0.69225	0.0:0.0:1.0:0.0	.	235;332;277;332	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	332;235	ENSP00000302269:R332Q;ENSP00000443242:R235Q	ENSP00000302269:R332Q	R	+	2	0	VAV1	6779154	1.000000	0.71417	0.980000	0.43619	0.390000	0.30446	9.064000	0.93933	2.076000	0.62316	0.462000	0.41574	CGA		0.552	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			39	219	0	0	0	1	0	39	219					A	6828154	G	A	6828154	3	1	79	1	0	0	0	0	1	0	0	0	17185	1058	37	1	1033	1	VAV1	19	6828154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7434	6828154	52300829	18474	28791											
VAV1	7409	broad.mit.edu	37	chr19	6828892	6828892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatcacctcggtggaaCggcgctccaagatggacagg	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828892C>T	ENST00000602142.1	+	13	1328	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	VAV1_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W|VAV1_ENST00000304076.2_Missense_Mutation_p.R416W|VAV1_ENST00000599806.1_Missense_Mutation_p.R361W	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	416	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						CTCGGTGGAACGGCGCTCCAA	0.612																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1246-1248)Cgg>Tgg		vav 1 guanine nucleotide exchange factor							57	46	50					19																	6828892		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828892C>T		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.1246C>T	19.37:g.6828892C>T	ENSP00000472929:p.Arg416Trp					VAV1_ENST00000602142.1_Missense_Mutation_p.R416W|VAV1_ENST00000596764.1_Missense_Mutation_p.R384W|VAV1_ENST00000599806.1_Missense_Mutation_p.R361W|VAV1_ENST00000539284.1_Missense_Mutation_p.R319W	p.R416W	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			13	1340	+			416			PH.		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.1246C>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651623	0.67472	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	D;D	0.88586	-2.4;-2.4	5.25	-4.27	0.03744	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.188612	0.43110	D	0.000606	D	0.89178	0.6641	L	0.36672	1.1	0.37942	D	0.932369	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	P;D;D;D	0.68765	0.831;0.922;0.941;0.96	D	0.87035	0.2137	10	0.38643	T	0.18	.	16.8943	0.86096	0.8235:0.1765:0.0:0.0	.	319;416;361;416	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	W	416;319	ENSP00000302269:R416W;ENSP00000443242:R319W	ENSP00000302269:R416W	R	+	1	2	VAV1	6779892	0.969000	0.33509	0.411000	0.26484	0.687000	0.40016	0.569000	0.23638	-0.333000	0.08476	-0.238000	0.12139	CGG		0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			38	217	0	0	0	1	0	38	217					T	6828892	C	T	6828892	3	4	79	1	0	0	0	0	1	0	0	0	17185	527	19	1	1296	1	VAV1	19	6828892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	738	6828892	52300091	18475	28792											
VAV1	7409	broad.mit.edu	37	chr19	6836997	6836997	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctgggtgtttaggGcagaaatacatctactaatg	10	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	ENST00000602142.1	+	21	1998	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	VAV1_ENST00000596764.1_Splice_Site_p.G607D|VAV1_ENST00000539284.1_Splice_Site_p.G542D|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000599806.1_Splice_Site_p.G584D	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	639	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						GGTGTTTAGGGCAGAAATACA	0.473																																						ENST00000596764.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.e20-1		vav 1 guanine nucleotide exchange factor							163	160	161					19																	6836997		2203	4300	6503	SO:0001630	splice_region_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6836997G>A		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.1915-1G>A	19.37:g.6836997G>A						VAV1_ENST00000602142.1_Splice_Site_p.G639_splice|VAV1_ENST00000304076.2_Intron|VAV1_ENST00000599806.1_Splice_Site_p.G584_splice|VAV1_ENST00000539284.1_Splice_Site_p.G542_splice	p.G607_splice	NM_001258207.1	NP_001245136.1	P15498	VAV_HUMAN			20	1900	+			639					B4DVK9|M0QXX6|Q15860	Splice_Site	SNP	ENST00000602142.1	37	c.1818_splice	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092902	0.56075	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.58940	0.67;0.3	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.88704	2.975	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.967;0.987;0.998	D	0.83437	0.0041	10	0.59425	D	0.04	.	15.7303	0.77794	0.0:0.0:1.0:0.0	.	542;584;639	F5H5P4;Q96D37;P15498	.;.;VAV_HUMAN	D	639;542	ENSP00000302269:G639D;ENSP00000443242:G542D	ENSP00000302269:G639D	G	+	2	0	VAV1	6787997	1.000000	0.71417	0.999000	0.59377	0.294000	0.27393	7.495000	0.81514	2.307000	0.77673	0.478000	0.44815	GGC		0.473	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		Missense_Mutation	94	572	0	0	0	1	0	94	572					A	6836997	G	A	6836997	5	1	79	1	0	0	0	0	0	0	1	0	17185	1217	42	2	1998	2	VAV1	19	6836997	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8105	6836997	52291986	18476	28793											
VAV1	7409	broad.mit.edu	37	chr19	6848025	6848025	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaggtacgcaggccccatgGagcgggcaggggcagagagc	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6848025G>T	ENST00000602142.1	+	23	2111	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.E655*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	677	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						AGGCCCCATGGAGCGGGCAGG	0.602																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1963-1965)Gag>Tag		vav 1 guanine nucleotide exchange factor							87	89	88					19																	6848025		2203	4300	6503	SO:0001587	stop_gained	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6848025G>T		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.2029G>T	19.37:g.6848025G>T	ENSP00000472929:p.Glu677*					VAV1_ENST00000602142.1_Nonsense_Mutation_p.E677*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.E645*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.E622*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.E580*	p.E655*	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			22	2057	+			677			SH3 1.		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	ENST00000602142.1	37	c.1963G>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926758	0.92319	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	3.68	3.68	0.42216	.	0.065910	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.9492	0.58389	0.0:0.0:1.0:0.0	.	.	.	.	X	677;580	.	ENSP00000302269:E677X	E	+	1	0	VAV1	6799025	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	8.064000	0.89483	1.890000	0.54733	0.313000	0.20887	GAG		0.602	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			55	526	1	0	4.1673e-28	1	4.84001e-28	55	526					T	6848025	G	T	6848025	4	4	79	1	0	0	0	0	0	1	0	0	17185	1175	41	3	2119	3	VAV1	19	6848025	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11028	6848025	52280958	18477	28794											
EMR1	2015	broad.mit.edu	37	chr19	6897456	6897456	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagatatcaatgagtgcctcAccagcagcgtctgccctgag	10	13	3	3	rs151147887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6897456A>G	ENST00000312053.4	+	5	449	c.412A>G	c.(412-414)Acc>Gcc	p.T138A	EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.T138A|EMR1_ENST00000250572.8_Missense_Mutation_p.T138A|EMR1_ENST00000381404.4_Missense_Mutation_p.T86A|EMR1_ENST00000601198.1_3'UTR|AC020895.1_ENST00000580648.1_RNA	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	138	EGF-like 3; 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)					TGAGTGCCTCACCAGCAGCGT	0.478																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(412-414)Acc>Gcc		egf-like module containing, mucin-like, hormone receptor-like 1							95	78	84					19																	6897456		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6897456A>G	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.412A>G	19.37:g.6897456A>G	ENSP00000311545:p.Thr138Ala					EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381404.4_Missense_Mutation_p.T86A|EMR1_ENST00000450315.3_Missense_Mutation_p.T138A|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000250572.8_Missense_Mutation_p.T138A	p.T138A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			5	449	+	all_hematologic(4;0.166)		138			EGF-like 3; calcium-binding (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.412A>G	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	A	0.536	-0.855650	0.02630	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000450315	D;D;D;T	0.92149	-2.2;-2.98;-2.2;0.31	4.12	-8.24	0.01029	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.79387	0.4437	N	0.25201	0.72	0.09310	N	1	B;B;B;B	0.32365	0.007;0.114;0.027;0.367	B;B;B;B	0.36989	0.004;0.053;0.046;0.238	T	0.71251	-0.4648	9	0.09084	T	0.74	.	1.0346	0.01545	0.2211:0.3221:0.2535:0.2034	.	138;138;86;138	E7EPX9;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	A	138;138;86;138;138	ENSP00000311545:T138A;ENSP00000370811:T86A;ENSP00000250572:T138A;ENSP00000405974:T138A	ENSP00000250572:T138A	T	+	1	0	EMR1	6848456	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.222000	0.00140	-2.801000	0.00352	-0.460000	0.05396	ACC		0.478	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			6	270	0	0	0	1	0	6	270					G	6897456	A	G	6897456	3	3	79	1	0	0	0	0	1	0	0	0	5122	159	6	4	430	4	EMR1	19	6897456	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49431	6897456	52231527	18478	28795											
EMR1	2015	broad.mit.edu	37	chr19	6924844	6924844	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtgtgtctcctcttggcgaaGactctcttcctcgccggtat	10	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6924844G>A	ENST00000312053.4	+	15	1984	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381404.4_Silent_p.K597K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	649					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)					TCTTGGCGAAGACTCTCTTCC	0.582																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1945-1947)aaG>aaA		egf-like module containing, mucin-like, hormone receptor-like 1							219	138	165					19																	6924844		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6924844G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1947G>A	19.37:g.6924844G>A						EMR1_ENST00000381404.4_Silent_p.K597K|EMR1_ENST00000450315.3_Silent_p.K472K|EMR1_ENST00000381407.5_Silent_p.K508K|EMR1_ENST00000250572.8_Intron	p.K649K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			15	1984	+	all_hematologic(4;0.166)		649					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1947G>A	CCDS12175.1																																																																																				0.582	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			66	267	0	0	0	1	0	66	267					A	6924844	G	A	6924844	2	1	79	1	0	0	0	0	0	0	0	1	5122	933	33	2		2	EMR1	19	6924844	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27388	6924844	52204139	18479	28796											
EMR1	2015	broad.mit.edu	37	chr19	6926385	6926385	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcccctccagatgggctgCgccatcatcgcgggcttcct	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926385C>T	ENST00000312053.4	+	16	2032	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	EMR1_ENST00000381407.5_Silent_p.C524C|EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000250572.8_Silent_p.C600C|EMR1_ENST00000381404.4_Silent_p.C613C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	665					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)					AGATGGGCTGCGCCATCATCG	0.532																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(1993-1995)tgC>tgT		egf-like module containing, mucin-like, hormone receptor-like 1							122	115	118					19																	6926385		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6926385C>T	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.1995C>T	19.37:g.6926385C>T						EMR1_ENST00000381404.4_Silent_p.C613C|EMR1_ENST00000450315.3_Silent_p.C488C|EMR1_ENST00000381407.5_Silent_p.C524C|EMR1_ENST00000250572.8_Silent_p.C600C	p.C665C	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			16	2032	+	all_hematologic(4;0.166)		665					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1995C>T	CCDS12175.1																																																																																				0.532	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			6	250	0	0	0	1	0	6	250					T	6926385	C	T	6926385	2	4	79	1	0	0	0	0	0	0	0	1	5122	776	27	1		1	EMR1	19	6926385	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1541	6926385	52202598	18480	28797											
EMR1	2015	broad.mit.edu	37	chr19	6926546	6926546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgtgcctttggttatgGgctgccgatgctggtggtgg	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6926546G>A	ENST00000312053.4	+	16	2193	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	EMR1_ENST00000381407.5_Missense_Mutation_p.G578E|EMR1_ENST00000450315.3_Missense_Mutation_p.G542E|EMR1_ENST00000250572.8_Missense_Mutation_p.G654E|EMR1_ENST00000381404.4_Missense_Mutation_p.G667E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	719					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)					TTTGGTTATGGGCTGCCGATG	0.512																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2155-2157)gGg>gAg		egf-like module containing, mucin-like, hormone receptor-like 1							196	161	173					19																	6926546		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6926546G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2156G>A	19.37:g.6926546G>A	ENSP00000311545:p.Gly719Glu					EMR1_ENST00000381404.4_Missense_Mutation_p.G667E|EMR1_ENST00000450315.3_Missense_Mutation_p.G542E|EMR1_ENST00000381407.5_Missense_Mutation_p.G578E|EMR1_ENST00000250572.8_Missense_Mutation_p.G654E	p.G719E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			16	2193	+	all_hematologic(4;0.166)		719					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.2156G>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	g	14.20	2.463643	0.43736	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.18	4.18	0.49190	GPCR, family 2-like (1);	.	.	.	.	D	0.85775	0.5775	H	0.97564	4.03	0.32988	D	0.524519	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;0.999;1.0;1.0;0.999	D	0.91904	0.5534	9	0.66056	D	0.02	.	13.9966	0.64407	0.0:0.0:1.0:0.0	.	542;578;654;667;719	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	E	654;719;667;654;578;542	ENSP00000311545:G719E;ENSP00000370811:G667E;ENSP00000250572:G654E;ENSP00000370814:G578E;ENSP00000405974:G542E	ENSP00000250572:G654E	G	+	2	0	EMR1	6877546	1.000000	0.71417	0.042000	0.18584	0.145000	0.21501	5.639000	0.67868	1.866000	0.54105	0.585000	0.79938	GGG		0.512	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			9	521	0	0	0	1	0	9	521					A	6926546	G	A	6926546	3	1	79	1	0	0	0	0	1	0	0	0	5122	1232	43	2	2218	2	EMR1	19	6926546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	6926546	52202437	18481	28798											
ZNF557	79230	broad.mit.edu	37	chr19	7081411	7081411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgatctcccagctggaGcaagaagataaagtgatgac	12	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7081411G>A	ENST00000439035.2	+	6	507	c.267G>A	c.(265-267)gaG>gaA	p.E89E	ZNF557_ENST00000252840.6_Silent_p.E96E|ZNF557_ENST00000414706.1_Silent_p.E96E			Q8N988	ZN557_HUMAN	zinc finger protein 557	89	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCAGCTGGAGCAAGAAGATA	0.493																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(286-288)gaG>gaA		zinc finger protein 557							60	63	62					19																	7081411		2187	4295	6482	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7081411G>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.267G>A	19.37:g.7081411G>A						ZNF557_ENST00000252840.6_Silent_p.E96E|ZNF557_ENST00000439035.2_Silent_p.E89E	p.E96E	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	6	761	+			89			KRAB.		Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.288G>A	CCDS45945.1																																																																																				0.493	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		29	105	0	0	0	1	0	29	105					A	7081411	G	A	7081411	2	1	79	1	0	0	0	0	0	0	0	1	18041	962	34	2		2	ZNF557	19	7081411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154865	7081411	52047572	18482	28799											
ZNF557	79230	broad.mit.edu	37	chr19	7083365	7083365	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatcagtgtggaaaggctttCggcacgaggtcatctctttc	11	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083365C>T	ENST00000439035.2	+	8	1122	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ZNF557_ENST00000252840.6_Silent_p.F301F|ZNF557_ENST00000414706.1_Silent_p.F301F			Q8N988	ZN557_HUMAN	zinc finger protein 557	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)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAGGCTTTCGGCACGAGGT	0.483																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(901-903)ttC>ttT		zinc finger protein 557							150	160	157					19																	7083365		2166	4268	6434	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083365C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.882C>T	19.37:g.7083365C>T						ZNF557_ENST00000252840.6_Silent_p.F301F|ZNF557_ENST00000439035.2_Silent_p.F294F	p.F301F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1376	+			294					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.903C>T	CCDS45945.1																																																																																				0.483	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		130	588	0	0	0	1	0	130	588					T	7083365	C	T	7083365	2	4	79	1	0	0	0	0	0	0	0	1	18041	883	31	1		1	ZNF557	19	7083365	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1954	7083365	52045618	18483	28800											
ZNF557	79230	broad.mit.edu	37	chr19	7083484	7083484	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgacacagcacataagaaCtcatactggagaaaaaccct	6	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083484C>T	ENST00000439035.2	+	8	1241	c.1001C>T	c.(1000-1002)aCt>aTt	p.T334I	ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I|ZNF557_ENST00000414706.1_Missense_Mutation_p.T341I			Q8N988	ZN557_HUMAN	zinc finger protein 557	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CACATAAGAACTCATACTGGA	0.423																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(1021-1023)aCt>aTt		zinc finger protein 557							93	102	99					19																	7083484		2184	4286	6470	SO:0001583	missense	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7083484C>T	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.1001C>T	19.37:g.7083484C>T	ENSP00000398965:p.Thr334Ile					ZNF557_ENST00000252840.6_Missense_Mutation_p.T341I|ZNF557_ENST00000439035.2_Missense_Mutation_p.T334I	p.T341I	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	8	1495	+			334					Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	ENST00000439035.2	37	c.1022C>T	CCDS45945.1	.	.	.	.	.	.	.	.	.	.	C	1.185	-0.637016	0.03557	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.12672	2.66;2.66;2.66	1.32	0.255	0.15561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17379	0.485	0.20926	N	0.99983	B;B	0.28512	0.214;0.178	B;B	0.27380	0.079;0.047	T	0.39522	-0.9610	9	0.02654	T	1	.	5.2928	0.15737	0.0:0.784:0.0:0.216	.	334;341	Q8N988;Q8N988-2	ZN557_HUMAN;.	I	341;341;334	ENSP00000252840:T341I;ENSP00000404065:T341I;ENSP00000398965:T334I	ENSP00000252840:T341I	T	+	2	0	ZNF557	7034484	0.000000	0.05858	0.881000	0.34555	0.052000	0.14988	-0.121000	0.10643	0.132000	0.18615	0.313000	0.20887	ACT		0.423	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		68	342	0	0	0	1	0	68	342					T	7083484	C	T	7083484	3	4	79	1	0	0	0	0	1	0	0	0	18041	565	20	2	1044	2	ZNF557	19	7083484	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119	7083484	52045499	18484	28801											
INSR	3643	broad.mit.edu	37	chr19	7117408	7117408	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgaattgccagcacatgcGcatgaggtcagtgctgcggg	15	9	1	2	rs371841833		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7117408G>A	ENST00000302850.5	-	22	3950	c.3808C>T	c.(3808-3810)Cgc>Tgc	p.R1270C	INSR_ENST00000341500.5_Missense_Mutation_p.R1258C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)"	CAGCACATGCGCATGAGGTCA	0.607																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3772-3774)Cgc>Tgc		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	82	71	75		3808,3772	4.1	1	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	INSR	NM_000208.2,NM_001079817.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	1270/1383,1258/1371	7117408	1,13005	2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117408G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3808C>T	19.37:g.7117408G>A	ENSP00000303830:p.Arg1270Cys					INSR_ENST00000302850.5_Missense_Mutation_p.R1270C	p.R1258C	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			21	3811	-			1270			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3772C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249741	0.59212	0.0	1.16E-4	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.83163	-1.69;-1.69	5.14	4.1	0.47936	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.618783	0.13790	N	0.362574	T	0.77631	0.4159	L	0.50993	1.605	0.54753	D	0.999989	B;P	0.34522	0.401;0.455	B;B	0.27170	0.075;0.077	T	0.77289	-0.2643	10	0.66056	D	0.02	.	12.7767	0.57453	0.0:0.0:0.835:0.165	.	1258;1270	P06213-2;P06213	.;INSR_HUMAN	C	1270;1258	ENSP00000303830:R1270C;ENSP00000342838:R1258C	ENSP00000303830:R1270C	R	-	1	0	INSR	7068408	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	5.099000	0.64554	1.361000	0.45981	0.563000	0.77884	CGC		0.607	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			70	251	0	0	0	1	0	70	251					A	7117408	G	A	7117408	3	1	79	1	0	0	0	0	1	0	0	0	7803	1087	38	1	344	1	INSR	19	7117408	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33924	7117408	52011575	18485	28802											
INSR	3643	broad.mit.edu	37	chr19	7142938	7142938	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgtgaagtgtcgcaagcCggagatgaccagcgactcct	13	13	0	3	rs35045353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7142938C>T	ENST00000302850.5	-	12	2573	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	INSR_ENST00000341500.5_Missense_Mutation_p.G799S	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	811	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		G -> S (in dbSNP:rs35045353). {ECO:0000269|PubMed:17344846}.		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)"	TGTCGCAAGCCGGAGATGACC	0.612																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(2395-2397)Ggc>Agc		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						117	70	86					19																	7142938		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7142938C>T	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.2431G>A	19.37:g.7142938C>T	ENSP00000303830:p.Gly811Ser					INSR_ENST00000302850.5_Missense_Mutation_p.G811S	p.G799S	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			11	2434	-			811			Fibronectin type-III 2.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.2395G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919593	0.52653	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.71579	-0.58;-0.58	5.56	5.56	0.83823	Fibronectin, type III (3);	0.000000	0.45867	U	0.000332	T	0.70245	0.3202	M	0.79123	2.44	0.45822	D	0.998691	B;B	0.34200	0.103;0.441	B;B	0.27796	0.083;0.061	T	0.70788	-0.4777	10	0.36615	T	0.2	.	17.0297	0.86457	0.0:1.0:0.0:0.0	rs35045353	799;811	P06213-2;P06213	.;INSR_HUMAN	S	811;799	ENSP00000303830:G811S;ENSP00000342838:G799S	ENSP00000303830:G811S	G	-	1	0	INSR	7093938	0.970000	0.33590	0.957000	0.39632	0.675000	0.39556	2.293000	0.43558	2.609000	0.88269	0.655000	0.94253	GGC		0.612	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			25	122	0	0	0	1	0	25	122					T	7142938	C	T	7142938	3	4	79	1	0	0	0	0	1	0	0	0	7803	652	23	1	1761	1	INSR	19	7142938	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25530	7142938	51986045	18486	28803											
INSR	3643	broad.mit.edu	37	chr19	7172365	7172365	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggaaagtgacaccagagCgtaggatcggcggattttta	14	6	0	2	rs144929085		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7172365C>T	ENST00000302850.5	-	5	1346	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	INSR_ENST00000341500.5_Missense_Mutation_p.A402T	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	402					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)"	GACACCAGAGCGTAGGATCGG	0.483																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(1204-1206)Gct>Act		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						143	127	132					19																	7172365		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7172365C>T	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.1204G>A	19.37:g.7172365C>T	ENSP00000303830:p.Ala402Thr					INSR_ENST00000302850.5_Missense_Mutation_p.A402T	p.A402T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			5	1243	-			402					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.1204G>A	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550778	0.86127	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.82984	-1.67;-1.67	4.94	4.94	0.65067	EGF receptor, L domain (1);	0.000000	0.45867	D	0.000338	T	0.81588	0.4854	L	0.60957	1.885	0.80722	D	1	D;D;D	0.57899	0.981;0.972;0.961	B;B;B	0.43889	0.381;0.4;0.435	T	0.83015	-0.0170	10	0.44086	T	0.13	.	15.6761	0.77326	0.0:1.0:0.0:0.0	.	393;402;402	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	T	402	ENSP00000303830:A402T;ENSP00000342838:A402T	ENSP00000303830:A402T	A	-	1	0	INSR	7123365	1.000000	0.71417	0.792000	0.32020	0.763000	0.43281	7.459000	0.80802	2.294000	0.77228	0.561000	0.74099	GCT		0.483	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			112	438	0	0	0	1	0	112	438					T	7172365	C	T	7172365	3	4	79	1	0	0	0	0	1	0	0	0	7803	768	27	1	3016	1	INSR	19	7172365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29427	7172365	51956618	18487	28804											
ARHGEF18	23370	broad.mit.edu	37	chr19	7506797	7506797	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacacctcgctcttccctcaGatccctacaccgcctcgctg	5	21	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7506797G>T	ENST00000359920.6	+	3	908		c.e3-1		ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCTTCCCTCAGATCCCTACAC	0.617																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.e3-1		Rho/Rac guanine nucleotide exchange factor (GEF) 18							123	128	126					19																	7506797		2203	4300	6503	SO:0001630	splice_region_variant	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7506797G>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.656-1G>T	19.37:g.7506797G>T						ARHGEF18_ENST00000319670.9_Splice_Site|CTD-2207O23.3_ENST00000593531.1_Splice_Site		NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			3	908	+		Renal(5;0.0902)						A8MV62|B5ME81|O60274|Q6DD92	Splice_Site	SNP	ENST00000359920.6	37		CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872133	0.33069	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9733	0.71251	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF18	7412797	1.000000	0.71417	0.971000	0.41717	0.085000	0.17905	8.881000	0.92415	2.612000	0.88384	0.505000	0.49811	.		0.617	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318	Intron	57	1181	1	0	9.73076e-26	1	1.11809e-25	57	1181					T	7506797	G	T	7506797	5	4	79	1	0	0	0	0	0	0	1	0	901	956	33	3	665	3	ARHGEF18	19	7506797	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	334432	7506797	51622186	18488	28805											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509198	7509198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaaggccattggccGcctcttcccatgcgctgacg	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7509198G>A	ENST00000359920.6	+	4	1158	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R144H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A260T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	302	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)				GCCATTGGCCGCCTCTTCCCA	0.647																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(904-906)cGc>cAc		Rho/Rac guanine nucleotide exchange factor (GEF) 18							65	57	60					19																	7509198		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7509198G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.905G>A	19.37:g.7509198G>A	ENSP00000352995:p.Arg302His					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R144H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A260T	p.R302H	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			4	1158	+		Renal(5;0.0902)	302			DH.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.905G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570399	0.28003	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.63096	-0.02;-0.02	4.96	1.64	0.23874	Dbl homology (DH) domain (5);	0.270493	0.26499	N	0.024023	T	0.54431	0.1858	M	0.77103	2.36	0.35332	D	0.785731	B	0.32893	0.389	B	0.27608	0.081	T	0.57400	-0.7818	10	0.59425	D	0.04	-10.1281	4.5546	0.12130	0.2289:0.0:0.6109:0.1602	.	302	Q6ZSZ5	ARHGI_HUMAN	H	144;302	ENSP00000319200:R144H;ENSP00000352995:R302H	ENSP00000319200:R144H	R	+	2	0	ARHGEF18	7415198	0.692000	0.27719	0.946000	0.38457	0.043000	0.13939	0.865000	0.27940	0.153000	0.19213	0.556000	0.70494	CGC		0.647	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		49	244	0	0	0	1	0	49	244					A	7509198	G	A	7509198	3	1	79	1	0	0	0	0	1	0	0	0	901	1087	38	1	919	1	ARHGEF18	19	7509198	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2401	7509198	51619785	18489	28806											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531999	7531999	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccagctgctcctgaacCttcaggtacaggggcggggt	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7531999C>A	ENST00000359920.6	+	15	2693	c.2440C>A	c.(2440-2442)Ctt>Att	p.L814I	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L656I|CTD-2207O23.3_ENST00000593531.1_Silent_p.T771T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	814					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)				GCTCCTGAACCTTCAGGTACA	0.677																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(2440-2442)Ctt>Att		Rho/Rac guanine nucleotide exchange factor (GEF) 18							51	53	52					19																	7531999		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7531999C>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2440C>A	19.37:g.7531999C>A	ENSP00000352995:p.Leu814Ile					ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L656I|CTD-2207O23.3_ENST00000593531.1_Silent_p.T771T	p.L814I	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			15	2693	+		Renal(5;0.0902)	814					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.2440C>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604987	0.46423	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.41758	0.99;0.99	5.38	5.38	0.77491	.	0.000000	0.48767	D	0.000175	T	0.61261	0.2333	M	0.78801	2.425	0.58432	D	0.999995	P;P	0.46952	0.843;0.887	P;P	0.57244	0.773;0.816	T	0.63328	-0.6662	10	0.52906	T	0.07	-29.0364	14.6139	0.68534	0.0:1.0:0.0:0.0	.	656;814	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	I	656;814	ENSP00000319200:L656I;ENSP00000352995:L814I	ENSP00000319200:L656I	L	+	1	0	ARHGEF18	7437999	1.000000	0.71417	0.578000	0.28575	0.039000	0.13416	4.215000	0.58534	2.522000	0.85027	0.561000	0.74099	CTT		0.677	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		96	425	1	0	5.01286e-43	1	6.11331e-43	96	425					A	7531999	C	A	7531999	3	1	79	1	0	0	0	0	1	0	0	0	901	681	24	3	2498	3	ARHGEF18	19	7531999	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22801	7531999	51596984	18490	28807											
C19orf45	374877	broad.mit.edu	37	chr19	7569075	7569075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccaaagacagttccagGccctgccaggcccacctgcc	8	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7569075G>A	ENST00000361664.2	+	3	787	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	216										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACAGTTCCAGGCCCTGCCAGG	0.602																																						ENST00000361664.2																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						c.(646-648)Gcc>Acc		chromosome 19 open reading frame 45							60	54	56					19																	7569075		2203	4300	6503	SO:0001583	missense	374877							g.chr19:7569075G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.646G>A	19.37:g.7569075G>A	ENSP00000355241:p.Ala216Thr						p.A216T	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN			3	787	+			216					Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	c.646G>A	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	g	18.74	3.688119	0.68271	.	.	ENSG00000198723	ENST00000419849;ENST00000361664	T	0.21361	2.01	4.02	1.81	0.25067	.	0.357489	0.29260	N	0.012663	T	0.29190	0.0726	M	0.62723	1.935	0.27481	N	0.952574	D	0.59357	0.985	P	0.55087	0.768	T	0.07271	-1.0781	10	0.62326	D	0.03	-29.0344	4.9702	0.14111	0.0994:0.0:0.5207:0.3799	.	216	Q8NA69	CS045_HUMAN	T	216	ENSP00000355241:A216T	ENSP00000355241:A216T	A	+	1	0	C19orf45	7475075	0.998000	0.40836	0.876000	0.34364	0.991000	0.79684	2.288000	0.43514	0.628000	0.30357	0.536000	0.68110	GCC		0.602	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		33	145	0	0	0	1	0	33	145					A	7569075	G	A	7569075	3	1	79	1	0	0	0	0	1	0	0	0	1935	1203	42	2	652	2	C19orf45	19	7569075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37076	7569075	51559908	18491	28808											
ZNF358	140467	broad.mit.edu	37	chr19	7584405	7584405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accccatgtcttcgagtttcGacctcgatccagatgtgatt	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584405G>A	ENST00000597229.1	+	2	447	c.277G>A	c.(277-279)Gac>Aac	p.D93N	ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N|CTD-2207O23.11_ENST00000602083.1_RNA|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	93					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTCGAGTTTCGACCTCGATCC	0.607																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(277-279)Gac>Aac		zinc finger protein 358							99	86	90					19																	7584405		2203	4300	6503	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584405G>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.277G>A	19.37:g.7584405G>A	ENSP00000472305:p.Asp93Asn					CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.D93N	p.D93N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	447	+			93					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.277G>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655071	0.67472	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07327	3.2	3.91	3.91	0.45181	.	.	.	.	.	T	0.04952	0.0133	N	0.24115	0.695	0.09310	N	0.999998	P	0.43885	0.82	B	0.26969	0.075	T	0.38542	-0.9656	9	0.26408	T	0.33	-25.3346	14.2642	0.66104	0.0:0.0:1.0:0.0	.	93	Q9NW07	ZN358_HUMAN	N	93	ENSP00000377873:D93N	ENSP00000354703:D93N	D	+	1	0	ZNF358	7490405	0.975000	0.34042	0.250000	0.24296	0.609000	0.37215	3.926000	0.56491	2.137000	0.66172	0.456000	0.33151	GAC		0.607	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			34	743	0	0	0	1	0	34	743					A	7584405	G	A	7584405	3	1	79	1	0	0	0	0	1	0	0	0	17920	1058	37	1	279	1	ZNF358	19	7584405	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15330	7584405	51544578	18492	28809											
MCOLN1	57192	broad.mit.edu	37	chr19	7591439	7591439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggagcggatgacaccttcGcagcctacacgcgggagcag	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7591439G>A	ENST00000264079.6	+	3	477	c.352G>A	c.(352-354)Gca>Aca	p.A118T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	118					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						TGACACCTTCGCAGCCTACAC	0.632																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(352-354)Gca>Aca		mucolipin 1							147	124	132					19																	7591439		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7591439G>A	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.352G>A	19.37:g.7591439G>A	ENSP00000264079:p.Ala118Thr						p.A118T	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			3	477	+			118					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.352G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020411	0.93462	.	.	ENSG00000090674	ENST00000264079	T	0.61158	0.13	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.61703	1.905	0.80722	D	1	D	0.62365	0.991	P	0.53809	0.735	T	0.64283	-0.6444	10	0.32370	T	0.25	.	16.8808	0.86062	0.0:0.0:1.0:0.0	.	118	Q9GZU1	MCLN1_HUMAN	T	118	ENSP00000264079:A118T	ENSP00000264079:A118T	A	+	1	0	MCOLN1	7497439	1.000000	0.71417	0.119000	0.21687	0.983000	0.72400	7.659000	0.83766	2.572000	0.86782	0.655000	0.94253	GCA		0.632	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		107	544	0	0	0	1	0	107	544					A	7591439	G	A	7591439	3	1	79	1	0	0	0	0	1	0	0	0	9436	1087	38	1	362	1	MCOLN1	19	7591439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7034	7591439	51537544	18493	28810											
MCOLN1	57192	broad.mit.edu	37	chr19	7595239	7595239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggacgacatgtttgtgaCgttcgccgccatgcaggcgc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595239C>T	ENST00000264079.6	+	12	1552	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	476					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						ATGTTTGTGACGTTCGCCGCC	0.602																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1426-1428)aCg>aTg		mucolipin 1							210	197	201					19																	7595239		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595239C>T	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1427C>T	19.37:g.7595239C>T	ENSP00000264079:p.Thr476Met						p.T476M	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1552	+			476					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1427C>T	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457621	0.84317	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	D	0.87809	-2.3	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.93996	0.8077	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	16.4162	0.83743	0.0:1.0:0.0:0.0	.	441;476	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	476;441	ENSP00000264079:T476M	ENSP00000264079:T476M	T	+	2	0	MCOLN1	7501239	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	7.487000	0.81328	2.478000	0.83669	0.563000	0.77884	ACG		0.602	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		288	1287	0	0	0	1	0	288	1287					T	7595239	C	T	7595239	3	4	79	1	0	0	0	0	1	0	0	0	9436	536	19	1	1473	1	MCOLN1	19	7595239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3800	7595239	51533744	18494	28811											
MCOLN1	57192	broad.mit.edu	37	chr19	7595335	7595335	+	Missense_Mutation	SNP	T	T	C													catcagcctcttcatctacaTggtgctcagcctcttcatcg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595335T>C	ENST00000264079.6	+	12	1648	c.1523T>C	c.(1522-1524)aTg>aCg	p.M508T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	508					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						TTCATCTACATGGTGCTCAGC	0.627																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1522-1524)aTg>aCg		mucolipin 1							250	235	240					19																	7595335		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595335T>C	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.1523T>C	19.37:g.7595335T>C	ENSP00000264079:p.Met508Thr						p.M508T	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1648	+			508					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1523T>C	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.025915	0.54683	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.69926	-0.44	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.71581	2.175	0.80722	D	1	B;P	0.36647	0.198;0.563	B;B	0.37989	0.234;0.262	T	0.68922	-0.5281	10	0.45353	T	0.12	.	13.1711	0.59599	0.0:0.0:0.0:1.0	.	473;508	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	T	508;473	ENSP00000264079:M508T	ENSP00000264079:M508T	M	+	2	0	MCOLN1	7501335	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.005000	0.58758	0.460000	0.39030	ATG		0.627	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		20	1660	0	0	0	1	0	20	1660					C	7595335	T	C	7595335	3	2	79	1	0	0	0	0	1	0	0	0	9436	1464	51	4	1569	4	MCOLN1	19	7595335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96	7595335	51533648	18495	28812	184	2									
MCOLN1	57192	broad.mit.edu	37	chr19	7595344	7595344	+	Missense_Mutation	SNP	G	G	A													cttcatctacatggtgctcaGcctcttcatcgcgctcatca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595344G>A	ENST00000264079.6	+	12	1657	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	511					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						ATGGTGCTCAGCCTCTTCATC	0.627																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1531-1533)aGc>aAc		mucolipin 1							239	224	229					19																	7595344		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7595344G>A	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.1532G>A	19.37:g.7595344G>A	ENSP00000264079:p.Ser511Asn						p.S511N	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			12	1657	+			511					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1532G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497304	0.85069	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.64260	-0.09	5.29	5.29	0.74685	Polycystin cation channel, PKD1/PKD2 (1);	0.092272	0.85682	D	0.000000	T	0.71651	0.3365	L	0.58583	1.82	0.58432	D	0.999999	P;P	0.50710	0.711;0.938	P;D	0.65233	0.747;0.933	T	0.65772	-0.6087	10	0.07325	T	0.83	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	476;511	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	N	511;476	ENSP00000264079:S511N	ENSP00000264079:S511N	S	+	2	0	MCOLN1	7501344	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	5.746000	0.68681	2.478000	0.83669	0.563000	0.77884	AGC		0.627	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		287	1318	0	0	0	1	0	287	1318					A	7595344	G	A	7595344	3	1	79	1	0	0	0	0	1	0	0	0	9436	971	34	2	1578	2	MCOLN1	19	7595344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	7595344	51533639	18496	28813	184	2									
PNPLA6	10908	broad.mit.edu	37	chr19	7606952	7606952	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccatgccaggggacatctcAggtttggagcactgggtctg	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	ENST00000221249.6	+	13	1565	c.1134A>G	c.(1132-1134)tcA>tcG	p.S378S	PNPLA6_ENST00000414982.3_Splice_Site_p.S426S|PNPLA6_ENST00000600737.1_Splice_Site_p.S417S|PNPLA6_ENST00000450331.3_Splice_Site_p.S378S|PNPLA6_ENST00000545201.2_Splice_Site_p.S378S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	417					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						GGGACATCTCAGGTTTGGAGC	0.602																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.e13+1		patatin-like phospholipase domain containing 6							40	39	40					19																	7606952		2203	4300	6503	SO:0001630	splice_region_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606952A>G	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.1135+1A>G	19.37:g.7606952A>G						PNPLA6_ENST00000545201.2_Splice_Site_p.S378_splice|PNPLA6_ENST00000600737.1_Splice_Site_p.S417_splice|PNPLA6_ENST00000450331.3_Splice_Site_p.S378_splice|PNPLA6_ENST00000414982.3_Splice_Site_p.S426_splice	p.S378_splice	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			13	1565	+			417					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Splice_Site	SNP	ENST00000221249.6	37	c.1135_splice	CCDS32891.1																																																																																				0.602	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	Silent	58	237	0	0	0	1	0	58	237					G	7606952	A	G	7606952	5	3	79	1	0	0	0	0	0	0	1	0	12211	202	7	4	1320	4	PNPLA6	19	7606952	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11608	7606952	51522031	18497	28814											
PNPLA6	10908	broad.mit.edu	37	chr19	7615445	7615445	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttacatcgtgctcaatggGcggctgcgtagcgtgatcca	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7615445G>A	ENST00000221249.6	+	19	2303	c.1872G>A	c.(1870-1872)ggG>ggA	p.G624G	PNPLA6_ENST00000414982.3_Silent_p.G672G|PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	663					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						TGCTCAATGGGCGGCTGCGTA	0.687																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1870-1872)ggG>ggA		patatin-like phospholipase domain containing 6							54	44	47					19																	7615445		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7615445G>A	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.1872G>A	19.37:g.7615445G>A						PNPLA6_ENST00000545201.2_Silent_p.G598G|PNPLA6_ENST00000600737.1_Silent_p.G663G|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Silent_p.G624G|PNPLA6_ENST00000414982.3_Silent_p.G672G	p.G624G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			19	2303	+			663					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.1872G>A	CCDS32891.1																																																																																				0.687	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		34	124	0	0	0	1	0	34	124					A	7615445	G	A	7615445	2	1	79	1	0	0	0	0	0	0	0	1	12211	1190	42	2		2	PNPLA6	19	7615445	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8493	7615445	51513538	18498	28815											
PNPLA6	10908	broad.mit.edu	37	chr19	7619930	7619930	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgcgctgtccgcgccGcctcttttcgcgccgcagcc	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7619930G>T	ENST00000221249.6	+	25	3103	c.2672G>T	c.(2671-2673)cGc>cTc	p.R891L	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	930					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						TGTCCGCGCCGCCTCTTTTCG	0.726																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2671-2673)cGc>cTc		patatin-like phospholipase domain containing 6							8	9	9					19																	7619930		2170	4253	6423	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619930G>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2672G>T	19.37:g.7619930G>T	ENSP00000221249:p.Arg891Leu					PNPLA6_ENST00000545201.2_Missense_Mutation_p.R864L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R929L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R891L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R939L	p.R891L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			25	3103	+			930					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.2672G>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.799649	0.90538	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	M	0.83953	2.67	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.899;0.997	D;D;P;P	0.97110	1.0;1.0;0.648;0.9	T	0.60031	-0.7342	10	0.59425	D	0.04	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	930;864;929;891	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	891;864;939;891	ENSP00000221249:R891L;ENSP00000443323:R864L;ENSP00000407509:R939L;ENSP00000394348:R891L	ENSP00000221249:R891L	R	+	2	0	PNPLA6	7525930	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	7.894000	0.87336	2.523000	0.85059	0.555000	0.69702	CGC		0.726	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		11	88	1	0	5.50884e-06	1	5.65664e-06	11	88					T	7619930	G	T	7619930	3	4	79	1	0	0	0	0	1	0	0	0	12211	1087	38	3	2906	3	PNPLA6	19	7619930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4485	7619930	51509053	18499	28816											
KIAA1543	57662	broad.mit.edu	37	chr19	7671252	7671252	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggccctgaccagcttggaGcacaagctgcttttctgggt	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7671252G>T	ENST00000160298.4	+	3	599	c.498G>T	c.(496-498)gaG>gaT	p.E166D	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E166D	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	166	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCAGCTTGGAGCACAAGCTGC	0.627																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(496-498)gaG>gaT		calmodulin regulated spectrin-associated protein family, member 3							72	78	76					19																	7671252		1983	4148	6131	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7671252G>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.498G>T	19.37:g.7671252G>T	ENSP00000160298:p.Glu166Asp					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.E166D	p.E166D	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			3	599	+			166			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.498G>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.911864	0.52439	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.25085	1.82;2.02	4.14	1.52	0.23074	Calponin homology domain (1);	0.137740	0.46442	D	0.000283	T	0.27278	0.0669	M	0.64997	1.995	0.31962	N	0.608328	B;B	0.30326	0.276;0.041	B;B	0.35813	0.211;0.028	T	0.34204	-0.9838	10	0.48119	T	0.1	-16.5692	9.974	0.41772	0.2186:0.0:0.7814:0.0	.	166;166	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	D	166	ENSP00000416797:E166D;ENSP00000160298:E166D	ENSP00000160298:E166D	E	+	3	2	KIAA1543	7577252	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.525000	0.35953	0.723000	0.32274	0.289000	0.19496	GAG		0.627	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		44	347	1	0	1.22674e-20	1	1.37621e-20	44	347					T	7671252	G	T	7671252	3	4	79	1	0	0	0	0	1	0	0	0	8273	962	34	3	508	3	KIAA1543	19	7671252	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51322	7671252	51457731	18500	28817											
XAB2	56949	broad.mit.edu	37	chr19	7687518	7687518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaccatcaaagtactcGgcccggcgggcaggcagcgc	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687518G>A	ENST00000358368.4	-	11	1438	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	XAB2_ENST00000534844.1_Silent_p.A464A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	467				A -> V (in Ref. 2; AAF86951). {ECO:0000305}.	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						CAAAGTACTCGGCCCGGCGGG	0.672								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				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						c.(1399-1401)gcC>gcT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							35	37	37					19																	7687518		2203	4299	6502	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687518G>A	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.1401C>T	19.37:g.7687518G>A						XAB2_ENST00000534844.1_Silent_p.A464A	p.A467A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			11	1438	-			467	A -> V (in Ref. 2; AAF86951).				Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.1401C>T	CCDS32892.1																																																																																				0.672	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		38	349	0	0	0	1	0	38	349					A	7687518	G	A	7687518	2	1	79	1	0	0	0	0	0	0	0	1	17472	1103	39	1		1	XAB2	19	7687518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16266	7687518	51441465	18501	28818											
XAB2	56949	broad.mit.edu	37	chr19	7687725	7687725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacaccacacgcttgccaGgtcatccacctgcttgaagt	8	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687725G>T	ENST00000358368.4	-	10	1331	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	432					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						ACGCTTGCCAGGTCATCCACC	0.647								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				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						c.(1294-1296)Ctg>Atg	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							77	59	65					19																	7687725		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687725G>T	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.1294C>A	19.37:g.7687725G>T	ENSP00000351137:p.Leu432Met					XAB2_ENST00000534844.1_Missense_Mutation_p.L429M	p.L432M	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			10	1331	-			432					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.1294C>A	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828483	0.71258	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.18960	2.18;2.18	5.36	2.88	0.33553	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000004	T	0.51346	0.1669	M	0.92169	3.28	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.59857	-0.7375	10	0.87932	D	0	-22.9572	9.4517	0.38729	0.2587:0.0:0.7413:0.0	.	432	Q9HCS7	SYF1_HUMAN	M	432;429	ENSP00000351137:L432M;ENSP00000438225:L429M	ENSP00000351137:L432M	L	-	1	2	XAB2	7593725	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.783000	0.55409	1.276000	0.44395	-0.140000	0.14226	CTG		0.647	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		13	185	1	0	7.03913e-09	1	7.37812e-09	13	185					T	7687725	G	T	7687725	3	4	79	1	0	0	0	0	1	0	0	0	17472	991	35	3	1313	3	XAB2	19	7687725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207	7687725	51441258	18502	28819											
XAB2	56949	broad.mit.edu	37	chr19	7693095	7693095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgagcctgggcttcggggcGccctgtttgaactcgatgta	14	10	0	2	rs574034608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7693095G>A	ENST00000358368.4	-	2	178	c.141C>T	c.(139-141)ggC>ggT	p.G47G	PET100_ENST00000601406.1_5'Flank|PET100_ENST00000456958.3_5'Flank|CTD-3214H19.4_ENST00000595866.1_5'Flank|PET100_ENST00000594797.1_5'Flank|XAB2_ENST00000534844.1_Silent_p.G44G	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	47					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						GCTTCGGGGCGCCCTGTTTGA	0.612								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	1	0.000199681	0.0	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.001					ENST00000358368.4																			0				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						c.(139-141)ggC>ggT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							83	74	77					19																	7693095		2202	4300	6502	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7693095G>A	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.141C>T	19.37:g.7693095G>A						XAB2_ENST00000534844.1_Silent_p.G44G	p.G47G	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			2	178	-			47					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.141C>T	CCDS32892.1																																																																																				0.612	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		51	202	0	0	0	1	0	51	202					A	7693095	G	A	7693095	2	1	79	1	0	0	0	0	0	0	0	1	17472	1074	38	1		1	XAB2	19	7693095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5370	7693095	51435888	18503	28820											
STXBP2	6813	broad.mit.edu	37	chr19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaccgggcagctgaccccGtgtccccactactgcatgag	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707143G>A	ENST00000221283.5	+	9	749	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M|STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607																																						ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(751-753)Gtg>Atg		syntaxin binding protein 2							65	66	66					19																	7707143		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707143G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.718G>A	19.37:g.7707143G>A	ENSP00000221283:p.Val240Met					STXBP2_ENST00000221283.5_Missense_Mutation_p.V240M|STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M	p.V251M	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			9	788	+			240					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.751G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	STXBP2	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG		0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		11	300	0	0	0	1	0	11	300					A	7707143	G	A	7707143	3	1	79	1	0	0	0	0	1	0	0	0	15405	1145	40	1	752	1	STXBP2	19	7707143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14048	7707143	51421840	18504	28821											
STXBP2	6813	broad.mit.edu	37	chr19	7707366	7707366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaggccgtcttgctggaCgaggacgatgacttgtgggt	17	7	1	2	rs143108973	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707366C>T	ENST00000221283.5	+	10	877	c.846C>T	c.(844-846)gaC>gaT	p.D282D	STXBP2_ENST00000414284.2_Silent_p.D279D|STXBP2_ENST00000441779.2_Silent_p.D293D	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	282					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTGCTGGACGAGGACGATG	0.662													C|||	7	0.00139776	0.0045	0.0014	5008	,	,		16550	0.0		0.0	False		,,,				2504	0.0					ENST00000441779.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(877-879)gaC>gaT		syntaxin binding protein 2		C	,	14,4392	21.2+/-45.6	0,14,2189	151	150	150		837,846	-6.6	0.2	19	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STXBP2	NM_001127396.1,NM_006949.2	,	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	,	279/591,282/594	7707366	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707366C>T	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.846C>T	19.37:g.7707366C>T						STXBP2_ENST00000221283.5_Silent_p.D282D|STXBP2_ENST00000414284.2_Silent_p.D279D	p.D293D	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN			10	916	+			282					B4E175|E7EQD5|Q9BU65	Silent	SNP	ENST00000221283.5	37	c.879C>T	CCDS12181.1																																																																																				0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949		217	828	0	0	0	1	0	217	828					T	7707366	C	T	7707366	2	4	79	1	0	0	0	0	0	0	0	1	15405	535	19	1		1	STXBP2	19	7707366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	223	7707366	51421617	18505	28822											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747600	7747600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcggtgctcacacacaGcggcttccctgccaaggtca	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7747600G>A	ENST00000317378.5	+	2	648	c.461G>A	c.(460-462)aGc>aAc	p.S154N	TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	154					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						CTCACACACAGCGGCTTCCCT	0.642																																						ENST00000317378.5																			0				NS(1)|lung(2)	3						c.(460-462)aGc>aAc		trafficking protein particle complex 5							26	30	29					19																	7747600		2182	4264	6446	SO:0001583	missense	126003				vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding	g.chr19:7747600G>A	BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"Trafficking protein particle complex"	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.461G>A	19.37:g.7747600G>A	ENSP00000316990:p.Ser154Asn					TRAPPC5_ENST00000426877.2_Missense_Mutation_p.S154N|CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.S154N|TRAPPC5_ENST00000595985.1_Missense_Mutation_p.S87N	p.S154N	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN			2	648	+			154					A8K7I6	Missense_Mutation	SNP	ENST00000317378.5	37	c.461G>A	CCDS42490.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041884	0.75732	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.43688	0.94;0.94	3.93	3.93	0.45458	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.57140	0.2033	M	0.85299	2.745	0.47511	D	0.99944	P	0.48640	0.913	P	0.49953	0.627	T	0.67405	-0.5679	10	0.72032	D	0.01	-10.8396	13.4726	0.61290	0.0:0.0:1.0:0.0	.	154	Q8IUR0	TPPC5_HUMAN	N	154	ENSP00000316990:S154N;ENSP00000399025:S154N	ENSP00000316990:S154N	S	+	2	0	TRAPPC5	7653600	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.357000	0.79456	1.767000	0.52121	0.306000	0.20318	AGC		0.642	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461252.1	XM_058961		19	117	0	0	0	1	0	19	117					A	7747600	G	A	7747600	3	1	79	1	0	0	0	0	1	0	0	0	16515	971	34	2	463	2	TRAPPC5	19	7747600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40234	7747600	51381383	18506	28823											
CLEC4G	339390	broad.mit.edu	37	chr19	7796186	7796186	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgtggccgtcaagcagCgccgcgcgctccgtggaggc	17	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7796186C>T	ENST00000328853.5	-	3	254	c.186G>A	c.(184-186)gcG>gcA	p.A62A	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	62						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGTCAAGCAGCGCCGCGCGCT	0.726																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.(184-186)gcG>gcA		C-type lectin domain family 4, member G							6	7	7					19																	7796186		2148	4211	6359	SO:0001819	synonymous_variant	339390					integral to membrane	protein binding|sugar binding	g.chr19:7796186C>T	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.186G>A	19.37:g.7796186C>T						CLEC4G_ENST00000598081.1_5'UTR	p.A62A	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN			3	254	-			62						Silent	SNP	ENST00000328853.5	37	c.186G>A	CCDS12185.1																																																																																				0.726	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		7	47	0	0	0	1	0	7	47					T	7796186	C	T	7796186	2	4	79	1	0	0	0	0	0	0	0	1	3526	755	27	1		1	CLEC4G	19	7796186	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48586	7796186	51332797	18507	28824											
CD209	30835	broad.mit.edu	37	chr19	7810795	7810795	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtagatctcctgcagCttagatttctctggaagctc	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7810795C>T	ENST00000315599.7	-	4	379	c.357G>A	c.(355-357)aaG>aaA	p.K119K	CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000315591.8_Silent_p.K95K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	119	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTCCTGCAGCTTAGATTTCT	0.562																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(355-357)aaG>aaA		CD209 molecule							98	101	100					19																	7810795		2203	4298	6501	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810795C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.357G>A	19.37:g.7810795C>T						CD209_ENST00000301357.8_Silent_p.K75K|CD209_ENST00000593660.1_Silent_p.K95K|CD209_ENST00000394173.4_Intron|CD209_ENST00000601256.1_Silent_p.K95K|CD209_ENST00000602261.1_Silent_p.K119K|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Silent_p.K95K|CD209_ENST00000204801.8_Silent_p.K75K|CD209_ENST00000354397.6_Silent_p.K119K|CD209_ENST00000593821.1_Silent_p.K75K|CD209_ENST00000315591.8_Silent_p.K95K	p.K119K	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	379	-			119			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.357G>A	CCDS12186.1																																																																																				0.562	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		41	853	0	0	0	1	0	41	853					T	7810795	C	T	7810795	2	4	79	1	0	0	0	0	0	0	0	1	2993	796	28	2		2	CD209	19	7810795	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14609	7810795	51318188	18508	28825											
CLEC4M	10332	broad.mit.edu	37	chr19	7830519	7830519	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagttccttttcttcttggCccagtgtccaaggtccccag	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7830519C>T	ENST00000327325.5	+	4	332				CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596707.1_Silent_p.G49G|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000359059.5_Silent_p.G49G|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M						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						TTCTTCTTGGCCCAGTGTCCA	0.502																																						ENST00000359059.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(145-147)ggC>ggT		C-type lectin domain family 4, member M							101	105	104					19																	7830519		2203	4300	6503	SO:0001627	intron_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7830519C>T	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.215-5C>T	19.37:g.7830519C>T						CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000394122.2_Intron|CLEC4M_ENST00000596707.1_Silent_p.G49G|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000327325.5_Intron|CLEC4M_ENST00000248228.4_Intron|CLEC4M_ENST00000595496.1_Silent_p.G49G	p.G49G	NM_001144906.1|NM_001144907.1	NP_001138378.1|NP_001138379.1	Q9H2X3	CLC4M_HUMAN			3	265	+			70					A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.147C>T	CCDS12187.1																																																																																				0.502	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		65	308	0	0	0	1	0	65	308					T	7830519	C	T	7830519	1	4	79	0	1	0	0	0	0	0	0	0	3527	726	26	2		2	CLEC4M	19	7830519	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19724	7830519	51298464	18509	28826											
CLEC4M	10332	broad.mit.edu	37	chr19	7831659	7831659	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgccaggaagtgagggCccagctcgtcgtaatcaaaa	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7831659C>T	ENST00000327325.5	+	5	1020	c.902C>T	c.(901-903)gCc>gTc	p.A301V	CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	301	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAGTGAGGGCCCAGCTCGTC	0.592																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(901-903)gCc>gTc		C-type lectin domain family 4, member M							85	78	81					19																	7831659		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831659C>T	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.902C>T	19.37:g.7831659C>T	ENSP00000316228:p.Ala301Val					CLEC4M_ENST00000597522.1_Missense_Mutation_p.A209V|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A289V|CLEC4M_ENST00000596707.1_Missense_Mutation_p.A234V|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A273V|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A301V|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A250V|CLEC4M_ENST00000359059.5_Missense_Mutation_p.A234V|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A279V|CLEC4M_ENST00000595496.1_Missense_Mutation_p.A165V	p.A301V	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			5	1020	+			301			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.902C>T	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130790	0.56828	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.94	2.57	2.57	0.30868	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.60418	0.2267	H	0.96015	3.755	0.09310	N	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	0.91635	0.998;0.989;0.999;0.997;0.952;0.999;0.999;0.994	T	0.51212	-0.8734	9	0.87932	D	0	.	8.8251	0.35050	0.0:1.0:0.0:0.0	.	250;234;301;289;278;273;165;209	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-7;Q9H2X3-4	.;.;CLC4M_HUMAN;.;.;.;.;.	V	301;289;279;250;234;301;245	ENSP00000316228:A301V;ENSP00000377680:A289V;ENSP00000248228:A279V;ENSP00000335228:A250V;ENSP00000351954:A234V;ENSP00000349924:A301V	ENSP00000248228:A279V	A	+	2	0	CLEC4M	7737659	0.001000	0.12720	0.202000	0.23494	0.138000	0.21146	0.626000	0.24492	1.754000	0.51921	0.556000	0.70494	GCC		0.592	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		91	362	0	0	0	1	0	91	362					T	7831659	C	T	7831659	3	4	79	1	0	0	0	0	1	0	0	0	3527	739	26	2	941	2	CLEC4M	19	7831659	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1140	7831659	51297324	18510	28827											
LRRC8E	80131	broad.mit.edu	37	chr19	7963918	7963918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctatccgaggtatccGgggagaaccagaagggccca	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7963918G>A	ENST00000306708.6	+	3	612	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	171					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						CGAGGTATCCGGGGAGAACCA	0.627																																						ENST00000306708.6																			0				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						c.(511-513)Ggg>Agg		leucine rich repeat containing 8 family, member E							46	53	51					19																	7963918		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7963918G>A		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.511G>A	19.37:g.7963918G>A	ENSP00000306524:p.Gly171Arg					AC010336.1_ENST00000539278.1_3'UTR	p.G171R	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	612	+			171					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.511G>A	CCDS12189.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405485	0.42715	.	.	ENSG00000171017	ENST00000306708	T	0.26373	1.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	L	0.42245	1.32	0.48571	D	0.999674	D	0.71674	0.998	P	0.60609	0.877	T	0.07790	-1.0754	10	0.52906	T	0.07	.	16.2508	0.82485	0.0:0.0:1.0:0.0	.	171	Q6NSJ5	LRC8E_HUMAN	R	171	ENSP00000306524:G171R	ENSP00000306524:G171R	G	+	1	0	LRRC8E	7869918	1.000000	0.71417	0.984000	0.44739	0.919000	0.55068	5.465000	0.66725	2.709000	0.92574	0.655000	0.94253	GGG		0.627	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		130	507	0	0	0	1	0	130	507					A	7963918	G	A	7963918	3	1	79	1	0	0	0	0	1	0	0	0	9063	1116	39	1	517	1	LRRC8E	19	7963918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132259	7963918	51165065	18511	28828											
MAP2K7	5609	broad.mit.edu	37	chr19	7974947	7974947	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgctccatgtccccaGcattgagattgaccagaagc	9	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7974947G>A	ENST00000397979.3	+	3	320		c.e3-1		CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000545011.1_Splice_Site	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CATGTCCCCAGCATTGAGATT	0.622																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.e3-1		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						25	28	27					19																	7974947		2037	4178	6215	SO:0001630	splice_region_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7974947G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.267-1G>A	19.37:g.7974947G>A						MAP2K7_ENST00000397979.3_Splice_Site|MAP2K7_ENST00000397983.3_Splice_Site|MAP2K7_ENST00000397981.3_Splice_Site				O14733	MP2K7_HUMAN			3	331	+								B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Splice_Site	SNP	ENST00000397979.3	37		CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901762	0.52227	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	.	.	.	4.69	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9413	0.47275	0.0938:0.0:0.9062:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K7	7880947	1.000000	0.71417	0.988000	0.46212	0.856000	0.48823	3.565000	0.53798	1.118000	0.41863	0.561000	0.74099	.		0.622	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1		Intron	5	56	0	0	0	1	0	5	56					A	7974947	G	A	7974947	5	1	79	1	0	0	0	0	0	0	1	0	9283	985	34	2	276	2	MAP2K7	19	7974947	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11029	7974947	51154036	18512	28829											
MAP2K7	5609	broad.mit.edu	37	chr19	7975916	7975916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacggtgtcatccaccgcGacgtcaagccctccaacatc	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7975916G>A	ENST00000397979.3	+	7	781	c.727G>A	c.(727-729)Gac>Aac	p.D243N	CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N|MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000545011.1_Missense_Mutation_p.D285N	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CATCCACCGCGACGTCAAGCC	0.632																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(853-855)Gac>Aac		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						39	44	42					19																	7975916		2132	4248	6380	SO:0001583	missense	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7975916G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.727G>A	19.37:g.7975916G>A	ENSP00000381066:p.Asp243Asn					MAP2K7_ENST00000397979.3_Missense_Mutation_p.D243N|MAP2K7_ENST00000397983.3_Missense_Mutation_p.D259N|MAP2K7_ENST00000397981.3_Missense_Mutation_p.D243N	p.D285N			O14733	MP2K7_HUMAN			7	918	+			243			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	ENST00000397979.3	37	c.853G>A	CCDS42491.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583767	0.96578	.	.	ENSG00000076984	ENST00000397981;ENST00000397983;ENST00000545011;ENST00000425613;ENST00000397979	D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96907	0.8990	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97502	1.0061	10	0.87932	D	0	-9.0758	17.0918	0.86624	0.0:0.0:1.0:0.0	.	243;243	O14733-4;O14733	.;MP2K7_HUMAN	N	243;259;285;259;243	ENSP00000381068:D243N;ENSP00000381070:D259N;ENSP00000443946:D285N;ENSP00000381066:D243N	ENSP00000381066:D243N	D	+	1	0	MAP2K7	7881916	1.000000	0.71417	0.960000	0.40013	0.807000	0.45602	7.652000	0.83633	2.711000	0.92665	0.561000	0.74099	GAC		0.632	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			51	227	0	0	0	1	0	51	227					A	7975916	G	A	7975916	3	1	79	1	0	0	0	0	1	0	0	0	9283	1058	37	1	753	1	MAP2K7	19	7975916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	969	7975916	51153067	18513	28830											
TIMM44	10469	broad.mit.edu	37	chr19	8003069	8003069	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccttttctgtttccagaaGaatatgatttggactagaaa	8	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8003069G>A	ENST00000270538.3	-	3	423	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	52					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						GTTTCCAGAAGAATATGATTT	0.323																																						ENST00000270538.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(154-156)tCt>tTt		translocase of inner mitochondrial membrane 44 homolog (yeast)							60	58	59					19																	8003069		2201	4300	6501	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:8003069G>A	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.155C>T	19.37:g.8003069G>A	ENSP00000270538:p.Ser52Phe						p.S52F	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN			3	423	-			52					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.155C>T	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299061	0.81025	.	.	ENSG00000104980	ENST00000270538	T	0.79845	-1.31	5.38	5.38	0.77491	.	0.063727	0.64402	D	0.000003	D	0.89121	0.6625	M	0.83953	2.67	0.80722	D	1	D	0.67145	0.996	P	0.61201	0.885	D	0.89739	0.3932	10	0.51188	T	0.08	-10.6985	16.6135	0.84900	0.0:0.0:1.0:0.0	.	52	O43615	TIM44_HUMAN	F	52	ENSP00000270538:S52F	ENSP00000270538:S52F	S	-	2	0	TIMM44	7909069	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.356000	0.90085	2.531000	0.85337	0.650000	0.86243	TCT		0.323	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			55	267	0	0	0	1	0	55	267					A	8003069	G	A	8003069	3	1	79	1	0	0	0	0	1	0	0	0	15964	942	33	2	1247	2	TIMM44	19	8003069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27153	8003069	51125914	18514	28831											
ELAVL1	1994	broad.mit.edu	37	chr19	8032510	8032510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcgctggcgagtggtacaGctgcgagaggagtgccacgt	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8032510G>A	ENST00000407627.2	-	5	724	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Silent_p.L199L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	199					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						GAGTGGTACAGCTGCGAGAGG	0.582																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(595-597)Ctg>Ttg		ELAV like RNA binding protein 1							121	97	105					19																	8032510		2203	4300	6503	SO:0001819	synonymous_variant	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8032510G>A	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.595C>T	19.37:g.8032510G>A						ELAVL1_ENST00000596459.1_Silent_p.L199L|ELAVL1_ENST00000351593.5_Silent_p.L226L|ELAVL1_ENST00000593807.1_Intron	p.L199L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			5	724	-			199					B4DVB8|Q53XN6|Q9BTT1	Silent	SNP	ENST00000407627.2	37	c.595C>T	CCDS12193.1																																																																																				0.582	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		7	259	0	0	0	1	0	7	259					A	8032510	G	A	8032510	2	1	79	1	0	0	0	0	0	0	0	1	5067	962	34	2		2	ELAVL1	19	8032510	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29441	8032510	51096473	18515	28832											
ELAVL1	1994	broad.mit.edu	37	chr19	8046064	8046064	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaagccatagcccaagCtgtgtcctgtgcaagagaac	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8046064C>A	ENST00000407627.2	-	3	308	c.179G>T	c.(178-180)aGc>aTc	p.S60I	ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	60	RRM 1. {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						ATAGCCCAAGCTGTGTCCTGT	0.527																																						ENST00000407627.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(178-180)aGc>aTc		ELAV like RNA binding protein 1							164	118	133					19																	8046064		2203	4300	6503	SO:0001583	missense	1994				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	g.chr19:8046064C>A	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.179G>T	19.37:g.8046064C>A	ENSP00000385269:p.Ser60Ile					ELAVL1_ENST00000596459.1_Missense_Mutation_p.S60I|ELAVL1_ENST00000351593.5_Missense_Mutation_p.S87I|ELAVL1_ENST00000593807.1_Missense_Mutation_p.S60I	p.S60I	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN			3	308	-			60			RRM 1.		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	ENST00000407627.2	37	c.179G>T	CCDS12193.1	.	.	.	.	.	.	.	.	.	.	C	33	5.287602	0.95517	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.79247	-1.25;-1.25	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	H	0.96301	3.8	0.80722	D	1	D	0.61697	0.99	P	0.61477	0.889	D	0.93571	0.6904	10	0.87932	D	0	.	17.4906	0.87702	0.0:1.0:0.0:0.0	.	60	Q15717	ELAV1_HUMAN	I	60;87	ENSP00000385269:S60I;ENSP00000264073:S87I	ENSP00000264073:S87I	S	-	2	0	ELAVL1	7952064	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.225000	0.78051	2.719000	0.93026	0.655000	0.94253	AGC		0.527	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461494.3	NM_001419		63	252	1	0	5.85407e-19	1	6.51309e-19	63	252					A	8046064	C	A	8046064	3	1	79	1	0	0	0	0	1	0	0	0	5067	797	28	3	817	3	ELAVL1	19	8046064	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13554	8046064	51082919	18516	28833											
FBN3	84467	broad.mit.edu	37	chr19	8155129	8155129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgaagcagaaactctgcCgtgtgtctgtggggtggggg	20	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8155129C>T	ENST00000600128.1	-	49	6452	c.6038G>A	c.(6037-6039)cGg>cAg	p.R2013Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q			Q75N90	FBN3_HUMAN	fibrillin 3	2013						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						GAAACTCTGCCGTGTGTCTGT	0.612																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6037-6039)cGg>cAg		fibrillin 3							42	43	43					19																	8155129		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8155129C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6038G>A	19.37:g.8155129C>T	ENSP00000470498:p.Arg2013Gln					FBN3_ENST00000270509.2_Missense_Mutation_p.R2013Q|FBN3_ENST00000601739.1_Missense_Mutation_p.R2013Q	p.R2013Q			Q75N90	FBN3_HUMAN			49	6452	-			2013					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6038G>A	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.761022|4.761022	0.89932|0.89932	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000341066|ENST00000270509	.|D	.|0.87256	.|-2.23	4.58|4.58	3.53|3.53	0.40419|0.40419	.|Matrix fibril-associated (2);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.91885|0.91885	0.7431|0.7431	M|M	0.73217|0.73217	2.22|2.22	0.53005|0.53005	D|D	0.999969|0.999969	.|D	.|0.76494	.|0.999	.|D	.|0.72625	.|0.978	D|D	0.91842|0.91842	0.5484|0.5484	6|10	0.11794|0.62326	T|D	0.64|0.03	.|.	12.7286|12.7286	0.57185|0.57185	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	.|2013	.|Q75N90	.|FBN3_HUMAN	S|Q	133|2013	.|ENSP00000270509:R2013Q	ENSP00000341317:G133S|ENSP00000270509:R2013Q	G|R	-|-	1|2	0|0	FBN3|FBN3	8061129|8061129	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.945000|0.945000	0.59286|0.59286	5.547000|5.547000	0.67249|0.67249	0.908000|0.908000	0.36671|0.36671	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		42	193	0	0	0	1	0	42	193					T	8155129	C	T	8155129	3	4	79	1	0	0	0	0	1	0	0	0	5729	652	23	1	2455	1	FBN3	19	8155129	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109065	8155129	50973854	18517	28834											
FBN3	84467	broad.mit.edu	37	chr19	8175947	8175947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggcccaaccttaccctggCaggcccggtggtcctcggtg	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8175947C>T	ENST00000600128.1	-	33	4619	c.4205G>A	c.(4204-4206)tGc>tAc	p.C1402Y	FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y|FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y			Q75N90	FBN3_HUMAN	fibrillin 3	1402	EGF-like 21; 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						CTTACCCTGGCAGGCCCGGTG	0.667																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4204-4206)tGc>tAc		fibrillin 3							54	51	52					19																	8175947		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8175947C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4205G>A	19.37:g.8175947C>T	ENSP00000470498:p.Cys1402Tyr					FBN3_ENST00000270509.2_Missense_Mutation_p.C1402Y|FBN3_ENST00000601739.1_Missense_Mutation_p.C1402Y	p.C1402Y			Q75N90	FBN3_HUMAN			33	4619	-			1402			EGF-like 21; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4205G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770983	0.49680	.	.	ENSG00000142449	ENST00000270509	D	0.99445	-5.91	3.67	3.67	0.42095	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99654	0.9872	H	0.95745	3.715	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97366	0.9973	10	0.87932	D	0	.	15.7061	0.77583	0.0:1.0:0.0:0.0	.	1402	Q75N90	FBN3_HUMAN	Y	1402	ENSP00000270509:C1402Y	ENSP00000270509:C1402Y	C	-	2	0	FBN3	8081947	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	7.091000	0.76923	1.758000	0.51981	0.462000	0.41574	TGC		0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		33	208	0	0	0	1	0	33	208					T	8175947	C	T	8175947	3	4	79	1	0	0	0	0	1	0	0	0	5729	710	25	2	4352	2	FBN3	19	8175947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20818	8175947	50953036	18518	28835											
FBN3	84467	broad.mit.edu	37	chr19	8203051	8203051	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagagttgccagggcccaggCtggggatcccacgcgcatca	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8203051C>A	ENST00000600128.1	-	10	1589	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	FBN3_ENST00000601739.1_Missense_Mutation_p.S392I|FBN3_ENST00000270509.2_Missense_Mutation_p.S392I			Q75N90	FBN3_HUMAN	fibrillin 3	392						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						AGGGCCCAGGCTGGGGATCCC	0.612																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(1174-1176)aGc>aTc		fibrillin 3							15	19	18					19																	8203051		2194	4289	6483	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8203051C>A		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.1175G>T	19.37:g.8203051C>A	ENSP00000470498:p.Ser392Ile					FBN3_ENST00000270509.2_Missense_Mutation_p.S392I|FBN3_ENST00000601739.1_Missense_Mutation_p.S392I	p.S392I			Q75N90	FBN3_HUMAN			10	1589	-			392					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.1175G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	9.180	1.023304	0.19433	.	.	ENSG00000142449	ENST00000270509	D	0.87334	-2.24	4.45	3.41	0.39046	.	0.731136	0.12732	U	0.443799	T	0.75228	0.3821	N	0.14661	0.345	0.20873	N	0.999833	B	0.26002	0.139	B	0.24541	0.054	T	0.61207	-0.7109	10	0.26408	T	0.33	.	9.4563	0.38756	0.0:0.898:0.0:0.102	.	392	Q75N90	FBN3_HUMAN	I	392	ENSP00000270509:S392I	ENSP00000270509:S392I	S	-	2	0	FBN3	8109051	0.966000	0.33281	0.952000	0.39060	0.717000	0.41224	0.760000	0.26475	0.864000	0.35578	-0.350000	0.07774	AGC		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		7	110	1	0	5.18039e-06	1	5.32547e-06	7	110					A	8203051	C	A	8203051	3	1	79	1	0	0	0	0	1	0	0	0	5729	797	28	3	7474	3	FBN3	19	8203051	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27104	8203051	50925932	18519	28836											
FBN3	84467	broad.mit.edu	37	chr19	8209804	8209804	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccatacacacaggcgcaGcggttgggcccaatgcagcg	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8209804G>A	ENST00000600128.1	-	6	912	c.498C>T	c.(496-498)cgC>cgT	p.R166R	FBN3_ENST00000601739.1_Silent_p.R166R|FBN3_ENST00000270509.2_Silent_p.R166R			Q75N90	FBN3_HUMAN	fibrillin 3	166	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGCGCAGCGGTTGGGCC	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(496-498)cgC>cgT		fibrillin 3							52	40	44					19																	8209804		2202	4300	6502	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8209804G>A		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.498C>T	19.37:g.8209804G>A						FBN3_ENST00000270509.2_Silent_p.R166R|FBN3_ENST00000601739.1_Silent_p.R166R	p.R166R			Q75N90	FBN3_HUMAN			6	912	-			166			EGF-like 1.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.498C>T	CCDS12196.1																																																																																				0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		17	60	0	0	0	1	0	17	60					A	8209804	G	A	8209804	2	1	79	1	0	0	0	0	0	0	0	1	5729	958	34	2		2	FBN3	19	8209804	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6753	8209804	50919179	18520	28837											
LASS4	79603	broad.mit.edu	37	chr19	8321538	8321538	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgtactggtggtacctcttgGagctgggtttctacctctca	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8321538G>T	ENST00000251363.5	+	8	856	c.556G>T	c.(556-558)Gag>Tag	p.E186*	CERS4_ENST00000559450.1_Nonsense_Mutation_p.E186*|CERS4_ENST00000559336.1_Nonsense_Mutation_p.E186*|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_Nonsense_Mutation_p.E135*	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	186	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)										GTACCTCTTGGAGCTGGGTTT	0.567																																						ENST00000558331.1																			0											c.(403-405)Gag>Tag		ceramide synthase 4							166	138	148					19																	8321538		2203	4300	6503	SO:0001587	stop_gained	79603					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr19:8321538G>T		CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.556G>T	19.37:g.8321538G>T	ENSP00000251363:p.Glu186*					CERS4_ENST00000251363.5_Nonsense_Mutation_p.E186*|CERS4_ENST00000559450.1_Nonsense_Mutation_p.E186*|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559336.1_Nonsense_Mutation_p.E186*	p.E135*			Q9HA82	CERS4_HUMAN			8	862	+			186			TLC.		D6W665	Nonsense_Mutation	SNP	ENST00000251363.5	37	c.403G>T	CCDS12197.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115408	0.56505	.	.	ENSG00000090661	ENST00000251363	.	.	.	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.1994	14.479	0.67567	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000251363:E186X	E	+	1	0	CERS4	8227538	1.000000	0.71417	0.915000	0.36163	0.037000	0.13140	8.112000	0.89566	2.009000	0.58944	0.462000	0.41574	GAG		0.567	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1	NM_024552		73	361	1	0	1.68136e-41	1	2.04314e-41	73	361					T	8321538	G	T	8321538	4	4	79	1	0	0	0	0	0	1	0	0	8672	1175	41	3	578	3	LASS4	19	8321538	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111734	8321538	50807445	18521	28838											
CD320	51293	broad.mit.edu	37	chr19	8367489	8367489	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcttgcactgagcaccGctgtggggaacagatggaca	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	ENST00000301458.5	-	5	771	c.707C>T	c.(706-708)gCg>gTg	p.A236V	CD320_ENST00000537716.2_Splice_Site_p.A194V	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	236	Poly-Ala.				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						ACTGAGCACCGCTGTGGGGAA	0.622																																						ENST00000301458.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						c.e5-1		CD320 molecule							43	41	41					19																	8367489		2203	4300	6503	SO:0001630	splice_region_variant	51293				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity	g.chr19:8367489G>A	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.707-1C>T	19.37:g.8367489G>A						CD320_ENST00000537716.2_Splice_Site_p.A194_splice	p.A236_splice	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN			5	771	-			236			Poly-Ala.		B2RDS5|D6W668|F5H6D3|Q53HF7	Splice_Site	SNP	ENST00000301458.5	37	c.706_splice	CCDS12198.1	.	.	.	.	.	.	.	.	.	.	G	5.969	0.362724	0.11296	.	.	ENSG00000167775	ENST00000301458;ENST00000537716	D;D	0.96856	-3.14;-4.15	4.04	-8.08	0.01094	.	1.298340	0.05497	N	0.557812	D	0.87581	0.6213	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.003	B;B	0.06405	0.002;0.001	T	0.80025	-0.1555	10	0.13853	T	0.58	.	10.0455	0.42184	0.2222:0.1237:0.6542:0.0	.	194;236	F5H6D3;Q9NPF0	.;CD320_HUMAN	V	236;194	ENSP00000301458:A236V;ENSP00000437697:A194V	ENSP00000301458:A236V	A	-	2	0	CD320	8273489	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.128000	0.03247	-1.940000	0.01043	-1.127000	0.01993	GCG		0.622	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461366.1	NM_016579	Missense_Mutation	61	249	0	0	0	1	0	61	249					A	8367489	G	A	8367489	5	1	79	1	0	0	0	0	0	0	1	0	3013	1101	38	1	145	1	CD320	19	8367489	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45951	8367489	50761494	18522	28839											
NDUFA7	4701	broad.mit.edu	37	chr19	8381461	8381461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagattcccggcggccatcgCgagtgcaatagtaattgttg	12	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8381461C>T	ENST00000301457.2	-	3	207	c.170G>A	c.(169-171)cGc>cAc	p.R57H	NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	57					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)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						GCGGCCATCGCGAGTGCAATA	0.567																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(169-171)cGc>cAc		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						68	75	73					19																	8381461		2019	4175	6194	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381461C>T	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"Mitochondrial respiratory chain complex / Complex I"	7691	protein-coding gene	gene with protein product	"complex I B14.5a subunit"	602139	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.170G>A	19.37:g.8381461C>T	ENSP00000301457:p.Arg57His					NDUFA7_ENST00000598884.1_Missense_Mutation_p.R57H	p.R57H	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	207	-			57						Missense_Mutation	SNP	ENST00000301457.2	37	c.170G>A	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201926	0.58234	.	.	ENSG00000167774	ENST00000301457	T	0.64803	-0.12	5.74	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.76002	2.32	0.37902	D	0.931084	P	0.39624	0.681	B	0.36030	0.216	T	0.70371	-0.4890	10	0.59425	D	0.04	-14.0334	13.361	0.60657	0.0:0.9236:0.0:0.0764	.	57	O95182	NDUA7_HUMAN	H	57	ENSP00000301457:R57H	ENSP00000301457:R57H	R	-	2	0	NDUFA7	8287461	1.000000	0.71417	0.121000	0.21740	0.555000	0.35460	7.429000	0.80309	1.424000	0.47217	0.561000	0.74099	CGC		0.567	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		94	410	0	0	0	1	0	94	410					T	8381461	C	T	8381461	3	4	79	1	0	0	0	0	1	0	0	0	10312	768	27	1	179	1	NDUFA7	19	8381461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13972	8381461	50747522	18523	28840											
RPS28	6234	broad.mit.edu	37	chr19	8386871	8386871	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catggacgacacgagccgatCcatcatccgcaatgtaaaag	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8386871C>A	ENST00000600659.2	+	3	153	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	NDUFA7_ENST00000301457.2_5'Flank|NDUFA7_ENST00000598884.1_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	41					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 small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										ACGAGCCGATCCATCATCCGC	0.642																																						ENST00000600659.2																			0											c.(121-123)tCc>tAc		ribosomal protein S28							17	17	17					19																	8386871		1911	4118	6029	SO:0001583	missense	6234				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:8386871C>A	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"S ribosomal proteins"	10418	protein-coding gene	gene with protein product	"40S ribosomal protein S28"	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.122C>A	19.37:g.8386871C>A	ENSP00000472469:p.Ser41Tyr						p.S41Y	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN			3	153	+			41					P25112	Missense_Mutation	SNP	ENST00000600659.2	37	c.122C>A	CCDS45953.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.794032	0.70452	.	.	ENSG00000233927	ENST00000417088	.	.	.	5.22	5.22	0.72569	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	B	0.30686	0.29	B	0.36244	0.22	T	0.51260	-0.8728	7	0.23302	T	0.38	.	17.5181	0.87780	0.0:1.0:0.0:0.0	.	41	P62857	RS28_HUMAN	Y	41	.	ENSP00000397872:S41Y	S	+	2	0	RPS28	8292871	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.649000	0.74364	2.720000	0.93068	0.655000	0.94253	TCC		0.642	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		11	46	1	0	0.0135373	1	0.0136081	11	46					A	8386871	C	A	8386871	3	1	79	1	0	0	0	0	1	0	0	0	13691	855	30	3	132	3	RPS28	19	8386871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5410	8386871	50742112	18524	28841											
MARCH2	51257	broad.mit.edu	37	chr19	8486755	8486755	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgctgccacctccccGgctccctgtgtgactgctcc	10	18	0	2	rs562445340		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8486755G>T	ENST00000602117.1	+	2	486	c.31G>T	c.(31-33)Ggc>Tgc	p.G11C	MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	11					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						CCACCTCCCCGGCTCCCTGTG	0.672																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(31-33)Ggc>Tgc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							46	47	47					19																	8486755		2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8486755G>T	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.31G>T	19.37:g.8486755G>T	ENSP00000471536:p.Gly11Cys					MARCH2_ENST00000601283.1_Missense_Mutation_p.G11C|MARCH2_ENST00000215555.2_Missense_Mutation_p.G11C|MARCH2_ENST00000393944.1_Missense_Mutation_p.G11C|MARCH2_ENST00000381035.4_Missense_Mutation_p.G11C	p.G11C			Q9P0N8	MARH2_HUMAN			2	486	+			11					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.31G>T	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977229	0.92982	.	.	ENSG00000099785	ENST00000393944;ENST00000215555;ENST00000381035	T;T;T	0.15952	2.38;2.38;2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12142	-1.0559	10	0.62326	D	0.03	-35.6497	18.284	0.90108	0.0:0.0:1.0:0.0	.	11;11	Q9P0N8-2;Q9P0N8	.;MARH2_HUMAN	C	11	ENSP00000377518:G11C;ENSP00000215555:G11C;ENSP00000370423:G11C	ENSP00000215555:G11C	G	+	1	0	MARCH2	8392755	1.000000	0.71417	0.962000	0.40283	0.921000	0.55340	7.633000	0.83260	2.660000	0.90430	0.555000	0.69702	GGC		0.672	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		59	330	1	0	2.59843e-28	1	3.0222e-28	59	330					T	8486755	G	T	8486755	3	4	79	1	0	0	0	0	1	0	0	0	9342	1116	39	3	33	3	MARCH2	19	8486755	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99884	8486755	50642228	18525	28842											
MARCH2	51257	broad.mit.edu	37	chr19	8495681	8495681	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccacctccggctccacaGccagctggaggccgtgggtc	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8495681G>A	ENST00000602117.1	+	4	967	c.512G>A	c.(511-513)aGc>aAc	p.S171N	MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000601283.1_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	171					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						CGGCTCCACAGCCAGCTGGAG	0.637																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(511-513)aGc>aAc		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							79	60	66					19																	8495681		2202	4300	6502	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8495681G>A	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.512G>A	19.37:g.8495681G>A	ENSP00000471536:p.Ser171Asn					MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.S171N|MARCH2_ENST00000393944.1_Missense_Mutation_p.S171N|MARCH2_ENST00000381035.4_Intron	p.S171N			Q9P0N8	MARH2_HUMAN			4	967	+			171					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.512G>A	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988397	0.53934	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.18960	2.18;2.18	4.26	4.26	0.50523	.	0.204126	0.49305	D	0.000147	T	0.27559	0.0677	M	0.68952	2.095	0.80722	D	1	D	0.53151	0.958	P	0.45343	0.477	T	0.07366	-1.0776	10	0.22706	T	0.39	-29.9527	15.7466	0.77949	0.0:0.0:1.0:0.0	.	171	Q9P0N8	MARH2_HUMAN	N	171	ENSP00000377518:S171N;ENSP00000215555:S171N	ENSP00000215555:S171N	S	+	2	0	MARCH2	8401681	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.745000	0.85046	2.364000	0.80123	0.448000	0.29417	AGC		0.637	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		42	200	0	0	0	1	0	42	200					A	8495681	G	A	8495681	3	1	79	1	0	0	0	0	1	0	0	0	9342	971	34	2	522	2	MARCH2	19	8495681	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8926	8495681	50633302	18526	28843											
HNRNPM	4670	broad.mit.edu	37	chr19	8528515	8528515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagagcatgaaaaaagCtgcggaagtcctaaacaagc	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8528515C>A	ENST00000325495.4	+	5	424	c.383C>A	c.(382-384)gCt>gAt	p.A128D	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A128D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	128	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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						ATGAAAAAAGCTGCGGAAGTC	0.413																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(382-384)gCt>gAt		heterogeneous nuclear ribonucleoprotein M							148	123	131					19																	8528515		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8528515C>A	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.383C>A	19.37:g.8528515C>A	ENSP00000325376:p.Ala128Asp					HNRNPM_ENST00000325495.4_Missense_Mutation_p.A128D	p.A128D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			5	615	+			128			RRM 1.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.383C>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248285	0.80024	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	D;T	0.88354	-2.37;1.16	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.97090	0.9790	10	0.87932	D	0	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	128;128;128;28	P52272;P52272-2;B4DEG4;Q59ES8	HNRPM_HUMAN;.;.;.	D	128;128;28	ENSP00000325376:A128D;ENSP00000325732:A128D	ENSP00000325376:A128D	A	+	2	0	HNRNPM	8434515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCT		0.413	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			74	279	1	0	6.20995e-33	1	7.34829e-33	74	279					A	8528515	C	A	8528515	3	1	79	1	0	0	0	0	1	0	0	0	7301	797	28	3	401	3	HNRNPM	19	8528515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32834	8528515	50600468	18527	28844											
HNRNPM	4670	broad.mit.edu	37	chr19	8548057	8548057	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttagaaatcctaagtaatgCactgaagagaggagagatca	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8548057C>T	ENST00000325495.4	+	13	1177	c.1136C>T	c.(1135-1137)gCa>gTa	p.A379V	HNRNPM_ENST00000348943.3_Missense_Mutation_p.A340V	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	379					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						CTAAGTAATGCACTGAAGAGA	0.388																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1018-1020)gCa>gTa		heterogeneous nuclear ribonucleoprotein M							172	166	168					19																	8548057		2203	4300	6503	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8548057C>T	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.1136C>T	19.37:g.8548057C>T	ENSP00000325376:p.Ala379Val					HNRNPM_ENST00000325495.4_Missense_Mutation_p.A379V	p.A340V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			14	1251	+			379					Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1019C>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528391	0.44969	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.14893	2.47;2.77	4.54	4.54	0.55810	.	0.531586	0.20813	N	0.085208	T	0.14527	0.0351	L	0.34521	1.04	0.39913	D	0.974059	B;B;B;B	0.21905	0.062;0.018;0.034;0.008	B;B;B;B	0.21708	0.036;0.011;0.036;0.011	T	0.04281	-1.0963	10	0.40728	T	0.16	.	13.1032	0.59233	0.0:1.0:0.0:0.0	.	219;379;340;264	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	V	379;340;264	ENSP00000325376:A379V;ENSP00000325732:A340V	ENSP00000325376:A379V	A	+	2	0	HNRNPM	8454057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.018000	0.49625	2.822000	0.97130	0.650000	0.86243	GCA		0.388	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			40	290	0	0	0	1	0	40	290					T	8548057	C	T	8548057	3	4	79	1	0	0	0	0	1	0	0	0	7301	710	25	2	1186	2	HNRNPM	19	8548057	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19542	8548057	50580926	18528	28845											
HNRNPM	4670	broad.mit.edu	37	chr19	8550883	8550883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggccctgccatcgagcGcatgggcctgagcatggagc	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550883G>A	ENST00000325495.4	+	14	1612	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R485H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	524	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)	p.R524H(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCCATCGAGCGCATGGGCCTG	0.697																																						ENST00000348943.3																			1	Substitution - Missense(1)	p.R524H(1)	lung(1)	endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1453-1455)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							48	51	50					19																	8550883		2202	4298	6500	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550883G>A	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.1571G>A	19.37:g.8550883G>A	ENSP00000325376:p.Arg524His					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R524H	p.R485H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1686	+			524			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1454G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889696	0.72524	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.48522	0.81;1.14	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.70595	2.14	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.991;0.999;1.0	D;P;D;D	0.85130	0.987;0.511;0.937;0.997	T	0.71912	-0.4449	10	0.72032	D	0.01	.	17.8127	0.88620	0.0:0.0:1.0:0.0	.	364;524;485;409	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	524;485;409;81	ENSP00000325376:R524H;ENSP00000325732:R485H	ENSP00000325376:R524H	R	+	2	0	HNRNPM	8456883	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.156000	0.77453	2.537000	0.85549	0.591000	0.81541	CGC		0.697	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			112	470	0	0	0	1	0	112	470					A	8550883	G	A	8550883	3	1	79	1	0	0	0	0	1	0	0	0	7301	1087	38	1	1625	1	HNRNPM	19	8550883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2826	8550883	50578100	18529	28846											
HNRNPM	4670	broad.mit.edu	37	chr19	8550903	8550903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatgggcctgagcatggagCgcatggtgcccgcaggtatg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550903C>T	ENST00000325495.4	+	14	1632	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R492C	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	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						GAGCATGGAGCGCATGGTGCC	0.687																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1474-1476)Cgc>Tgc		heterogeneous nuclear ribonucleoprotein M							48	51	50					19																	8550903		2203	4297	6500	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550903C>T	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.1591C>T	19.37:g.8550903C>T	ENSP00000325376:p.Arg531Cys					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531C	p.R492C	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1706	+			531			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1474C>T	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846507	0.51164	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.27720	1.78;1.65	5.62	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	L	0.38953	1.18	0.80722	D	1	B;B;B;B	0.20671	0.014;0.006;0.004;0.047	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.05209	-1.0899	10	0.87932	D	0	.	14.4855	0.67614	0.1483:0.8517:0.0:0.0	.	371;531;492;416	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	C	531;492;416;88	ENSP00000325376:R531C;ENSP00000325732:R492C	ENSP00000325376:R531C	R	+	1	0	HNRNPM	8456903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.450000	0.66626	1.333000	0.45449	0.591000	0.81541	CGC		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			100	473	0	0	0	1	0	100	473					T	8550903	C	T	8550903	3	4	79	1	0	0	0	0	1	0	0	0	7301	768	27	1	1645	1	HNRNPM	19	8550903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20	8550903	50578080	18530	28847											
HNRNPM	4670	broad.mit.edu	37	chr19	8551214	8551214	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaacttcggaggaagcttCgcaggttcctttggtggagc	15	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8551214C>T	ENST00000325495.4	+	14	1943	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	HNRNPM_ENST00000348943.3_Silent_p.F595F	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	634					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						GAGGAAGCTTCGCAGGTTCCT	0.602																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1783-1785)ttC>ttT		heterogeneous nuclear ribonucleoprotein M							42	45	44					19																	8551214		2203	4300	6503	SO:0001819	synonymous_variant	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8551214C>T	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.1902C>T	19.37:g.8551214C>T						HNRNPM_ENST00000325495.4_Silent_p.F634F	p.F595F	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	2017	+			634			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1785C>T	CCDS12203.1																																																																																				0.602	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			34	309	0	0	0	1	0	34	309					T	8551214	C	T	8551214	2	4	79	1	0	0	0	0	0	0	0	1	7301	883	31	1		1	HNRNPM	19	8551214	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	311	8551214	50577769	18531	28848											
PRAM1	4670	broad.mit.edu	37	chr19	8555099	8555099	+	IGR	SNP	T	T	G													tcccagggggagtggttggtTttccaggggatctgccgagg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555099T>G	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Missense_Mutation_p.N662H|PRAM1_ENST00000423345.4_Missense_Mutation_p.N663H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						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						AGTGGTTGGTTTTCCAGGGGA	0.687																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1987-1989)Aac>Cac		PML-RARA regulated adaptor molecule 1							28	35	33					19																	8555099		2176	4286	6462	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555099T>G	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		19.37:g.8555099T>G						PRAM1_ENST00000255612.3_Missense_Mutation_p.N662H	p.N663H			Q96QH2	PRAM_HUMAN			10	2507	-			711			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1987A>C	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827215	0.50739	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15372	2.43;2.43	3.65	3.65	0.41850	.	0.703582	0.12135	N	0.496399	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	D;D	0.59767	0.965;0.986	P;P	0.54100	0.66;0.742	T	0.11084	-1.0602	10	0.62326	D	0.03	.	8.9598	0.35840	0.0:0.0:0.0:1.0	.	663;711	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	H	662;663	ENSP00000255612:N662H;ENSP00000408342:N663H	ENSP00000255612:N662H	N	-	1	0	PRAM1	8461099	0.008000	0.16893	0.010000	0.14722	0.029000	0.11900	1.219000	0.32479	1.887000	0.54652	0.379000	0.24179	AAC		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			12	61	0	0	0	1	0	12	61					G	8555099	T	G	8555099	1	3	79	0	1	0	0	0	0	0	0	0	12470	1841	64	4		4	PRAM1	19	8555099	IGR	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3885	8555099	50573884	18532	28849	185	2									
PRAM1	4670	broad.mit.edu	37	chr19	8555100	8555100	+	IGR	SNP	T	T	G													cccagggggagtggttggttTtccaggggatctgccgagga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555100T>G	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Missense_Mutation_p.E661D|PRAM1_ENST00000423345.4_Missense_Mutation_p.E662D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						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						GTGGTTGGTTTTCCAGGGGAT	0.687																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1984-1986)gaA>gaC		PML-RARA regulated adaptor molecule 1							28	36	33					19																	8555100		2173	4286	6459	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555100T>G	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		19.37:g.8555100T>G						PRAM1_ENST00000255612.3_Missense_Mutation_p.E661D	p.E662D			Q96QH2	PRAM_HUMAN			10	2506	-			710			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1986A>C	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	9.595	1.127164	0.20959	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.15718	2.4;2.4	3.65	-7.31	0.01441	.	0.213794	0.23524	N	0.047246	T	0.04952	0.0133	N	0.12182	0.205	0.09310	N	1	B;B	0.18013	0.01;0.025	B;B	0.18561	0.015;0.022	T	0.19778	-1.0295	10	0.22109	T	0.4	.	1.7729	0.03016	0.1194:0.182:0.3141:0.3845	.	662;710	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	D	661;662	ENSP00000255612:E661D;ENSP00000408342:E662D	ENSP00000255612:E661D	E	-	3	2	PRAM1	8461100	0.007000	0.16637	0.009000	0.14445	0.036000	0.12997	-0.959000	0.03853	-1.379000	0.02118	-0.464000	0.05259	GAA		0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			18	55	0	0	0	1	0	18	55					G	8555100	T	G	8555100	1	3	79	0	1	0	0	0	0	0	0	0	12470	1838	64	4		4	PRAM1	19	8555100	IGR	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1	8555100	50573883	18533	28850	185	2									
PRAM1	4670	broad.mit.edu	37	chr19	8555240	8555240	+	IGR	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accgcagaagtcgacatcatCgtacacctccgtctccctgg	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555240C>T	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Missense_Mutation_p.D652N|PRAM1_ENST00000423345.4_Missense_Mutation_p.D653N	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						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						TCGACATCATCGTACACCTCC	0.662																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1957-1959)Gat>Aat		PML-RARA regulated adaptor molecule 1							60	67	65					19																	8555240		2167	4255	6422	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555240C>T	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		19.37:g.8555240C>T						PRAM1_ENST00000255612.3_Missense_Mutation_p.D652N	p.D653N			Q96QH2	PRAM_HUMAN			9	2477	-			701			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1957G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853240	0.51270	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.43688	0.94;0.94	4.47	4.47	0.54385	.	0.000000	0.39274	N	0.001417	T	0.48277	0.1491	N	0.24115	0.695	0.42879	D	0.994165	D;D	0.76494	0.998;0.999	D;D	0.70227	0.966;0.968	T	0.52624	-0.8551	10	0.87932	D	0	.	12.8225	0.57700	0.0:1.0:0.0:0.0	.	653;701	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	N	652;653	ENSP00000255612:D652N;ENSP00000408342:D653N	ENSP00000255612:D652N	D	-	1	0	PRAM1	8461240	0.586000	0.26782	0.633000	0.29310	0.025000	0.11179	3.641000	0.54360	2.470000	0.83445	0.462000	0.41574	GAT		0.662	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			54	210	0	0	0	1	0	54	210					T	8555240	C	T	8555240	1	4	79	0	1	0	0	0	0	0	0	0	12470	884	31	1		1	PRAM1	19	8555240	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140	8555240	50573743	18534	28851											
PRAM1	84106	broad.mit.edu	37	chr19	8564513	8564513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaccaaactcaggcagcGgggccttcttggggtgctcg	14	13	2	0	rs199916444	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8564513G>A	ENST00000423345.4	-	2	699	c.179C>T	c.(178-180)cCg>cTg	p.P60L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P60L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	60	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCAGCGGGGCCTTCTT	0.622													-|||	2	0.000399361	0.0	0.0014	5008	,	,		12183	0.0		0.0	False		,,,				2504	0.001					ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(178-180)cCg>cTg		PML-RARA regulated adaptor molecule 1		G	LEU/PRO	5,3901		0,5,1948	59	70	66		179	-0.8	0	19		66	0,8268		0,0,4134	yes	missense	PRAM1	NM_032152.4	98	0,5,6082	AA,AG,GG		0.0,0.128,0.0411	benign	60/671	8564513	5,12169	1953	4134	6087	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564513G>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.179C>T	19.37:g.8564513G>A	ENSP00000408342:p.Pro60Leu					PRAM1_ENST00000255612.3_Missense_Mutation_p.P60L	p.P60L			Q96QH2	PRAM_HUMAN			2	699	-			60			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.179C>T	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	9.934	1.215607	0.22373	0.00128	0.0	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14391	2.51;2.51	4.17	-0.841	0.10752	.	.	.	.	.	T	0.10594	0.0259	L	0.59436	1.845	0.09310	N	1	B;B	0.26041	0.14;0.064	B;B	0.17098	0.017;0.017	T	0.34527	-0.9825	9	0.25106	T	0.35	.	2.9996	0.06009	0.218:0.0:0.4054:0.3766	.	60;60	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	L	60	ENSP00000255612:P60L;ENSP00000408342:P60L	ENSP00000255612:P60L	P	-	2	0	PRAM1	8470513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.412000	0.07132	-0.014000	0.14175	-0.218000	0.12543	CCG		0.622	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		133	626	0	0	0	1	0	133	626					A	8564513	G	A	8564513	3	1	79	1	0	0	0	0	1	0	0	0	12470	1116	39	1	1866	1	PRAM1	19	8564513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9273	8564513	50564470	18535	28852											
ZNF414	84330	broad.mit.edu	37	chr19	8578036	8578036	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggaggagccctgctGcatccctccagcccctccac	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8578036G>A	ENST00000255616.8	-	2	294	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ZNF414_ENST00000393927.4_Nonsense_Mutation_p.Q65*	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	65			Q -> R (in dbSNP:rs8100431). {ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GAGCCCTGCTGCATCCCTCCA	0.706																																						ENST00000393927.4																			0				lung(2)	2						c.(193-195)Cag>Tag		zinc finger protein 414							8	8	8					19																	8578036		2155	4209	6364	SO:0001587	stop_gained	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8578036G>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"Zinc fingers, C2H2-type"	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.193C>T	19.37:g.8578036G>A	ENSP00000255616:p.Gln65*					ZNF414_ENST00000255616.8_Nonsense_Mutation_p.Q65*	p.Q65*	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN			2	306	-			65		Q -> R (in dbSNP:rs8100431).			A8MY94	Nonsense_Mutation	SNP	ENST00000255616.8	37	c.193C>T	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424835	0.62733	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	.	.	.	4.13	3.09	0.35607	.	0.000000	0.33438	N	0.004910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.8746	7.6881	0.28552	0.117:0.0:0.883:0.0	.	.	.	.	X	65	.	ENSP00000255616:Q65X	Q	-	1	0	ZNF414	8484036	0.964000	0.33143	0.366000	0.25914	0.319000	0.28217	2.193000	0.42658	1.079000	0.41038	0.655000	0.94253	CAG		0.706	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		5	23	0	0	0	1	0	5	23					A	8578036	G	A	8578036	4	1	79	1	0	0	0	0	0	1	0	0	17944	1328	46	2	1021	2	ZNF414	19	8578036	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13523	8578036	50550947	18536	28853											
MYO1F	4542	broad.mit.edu	37	chr19	8595095	8595095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgaagcggcggtcGtacttggtgaccgaatcggc	13	12	1	2	rs374767520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8595095G>A	ENST00000338257.8	-	21	2580	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	771	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCGGCGGTCGTACTTGGTGA	0.652																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2311-2313)taC>taT		myosin IF		G		0,4320		0,0,2160	67	78	74		2313	-3.2	1	19		74	6,8438		0,6,4216	no	coding-synonymous	MYO1F	NM_012335.3		0,6,6376	AA,AG,GG		0.0711,0.0,0.047		771/1099	8595095	6,12758	2160	4222	6382	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595095G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2313C>T	19.37:g.8595095G>A							p.Y771Y	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			21	2580	-			771					Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.2313C>T	CCDS42494.1																																																																																				0.652	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			151	659	0	0	0	1	0	151	659					A	8595095	G	A	8595095	2	1	79	1	0	0	0	0	0	0	0	1	10114	1140	40	1		1	MYO1F	19	8595095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17059	8595095	50533888	18537	28854											
MYO1F	4542	broad.mit.edu	37	chr19	8612995	8612995	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttgatgcaaaactgctcGaagccatttttctgcagaag	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8612995G>A	ENST00000338257.8	-	12	1461	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	AC092316.2_ENST00000581156.1_RNA|AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	398	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F398F(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						AAAACTGCTCGAAGCCATTTT	0.542																																						ENST00000338257.8																			1	Substitution - coding silent(1)	p.F398F(1)	large_intestine(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						c.(1192-1194)ttC>ttT		myosin IF							147	143	144					19																	8612995		1933	4142	6075	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8612995G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1194C>T	19.37:g.8612995G>A							p.F398F	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			12	1461	-			398			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1194C>T	CCDS42494.1																																																																																				0.542	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			192	881	0	0	0	1	0	192	881					A	8612995	G	A	8612995	2	1	79	1	0	0	0	0	0	0	0	1	10114	1049	37	1		1	MYO1F	19	8612995	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17900	8612995	50515988	18538	28855											
MYO1F	4542	broad.mit.edu	37	chr19	8619390	8619390	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acacactggttctcacagtcGataagcatgttccggtacat	8	11	1	0	rs201539438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8619390G>A	ENST00000338257.8	-	4	564	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	99	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCACAGTCGATAAGCATGT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19452	0.0		0.001	False		,,,				2504	0.0					ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(295-297)atC>atT		myosin IF							133	134	133					19																	8619390		2036	4180	6216	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8619390G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.297C>T	19.37:g.8619390G>A							p.I99I	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			4	564	-			99			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.297C>T	CCDS42494.1																																																																																				0.602	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			133	568	0	0	0	1	0	133	568					A	8619390	G	A	8619390	2	1	79	1	0	0	0	0	0	0	0	1	10114	1048	37	1		1	MYO1F	19	8619390	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6395	8619390	50509593	18539	28856											
ACTL9	284382	broad.mit.edu	37	chr19	8808336	8808336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcccaggggcaggccgGcctggagcagcatctccgcc	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808336G>A	ENST00000324436.3	-	1	836	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	239						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						GGGCAGGCCGGCCTGGAGCAG	0.657																																						ENST00000324436.3																			0				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						c.(715-717)gCc>gTc		actin-like 9							36	36	36					19																	8808336		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808336G>A		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.716C>T	19.37:g.8808336G>A	ENSP00000316674:p.Ala239Val						p.A239V	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	836	-			239					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.716C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	9.529	1.110203	0.20714	.	.	ENSG00000181786	ENST00000324436	D	0.94417	-3.42	4.77	4.77	0.60923	.	0.832480	0.09655	U	0.773177	D	0.91123	0.7205	L	0.42744	1.35	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.82476	-0.0438	10	0.87932	D	0	.	7.3774	0.26835	0.1773:0.0:0.8227:0.0	.	239	Q8TC94	ACTL9_HUMAN	V	239	ENSP00000316674:A239V	ENSP00000316674:A239V	A	-	2	0	ACTL9	8669336	0.001000	0.12720	0.029000	0.17559	0.010000	0.07245	1.389000	0.34453	2.649000	0.89929	0.462000	0.41574	GCC		0.657	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		54	229	0	0	0	1	0	54	229					A	8808336	G	A	8808336	3	1	79	1	0	0	0	0	1	0	0	0	203	1203	42	2	538	2	ACTL9	19	8808336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	188946	8808336	50320647	18540	28857			1	18		5	5	324	N	G_C	8.704821e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808354	8808354	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggagcagcatctccGccaggaaggcggtcaggtgg	17	12	2	0	rs372877504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808354G>A	ENST00000324436.3	-	1	818	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	233						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						CAGCATCTCCGCCAGGAAGGC	0.642																																						ENST00000324436.3																			0				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						c.(697-699)gCg>gTg		actin-like 9		T	VAL/ALA	0,4406		0,0,2203	37	37	37		698	2.4	0.6	19		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL9	NM_178525.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	233/417	8808354	1,13005	2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808354G>A		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.698C>T	19.37:g.8808354G>A	ENSP00000316674:p.Ala233Val						p.A233V	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	818	-			233					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.698C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	g	9.926	1.213504	0.22289	0.0	1.16E-4	ENSG00000181786	ENST00000324436	T	0.08282	3.11	4.55	2.42	0.29668	.	0.160511	0.29126	N	0.013065	T	0.06096	0.0158	L	0.33624	1.015	0.25170	N	0.990285	B	0.24721	0.11	B	0.24269	0.052	T	0.29549	-1.0008	10	0.72032	D	0.01	.	4.2869	0.10858	0.1871:0.0:0.6302:0.1827	.	233	Q8TC94	ACTL9_HUMAN	V	233	ENSP00000316674:A233V	ENSP00000316674:A233V	A	-	2	0	ACTL9	8669354	0.988000	0.35896	0.619000	0.29118	0.075000	0.17131	3.158000	0.50723	0.676000	0.31285	-0.358000	0.07595	GCG		0.642	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		61	219	0	0	0	1	0	61	219					A	8808354	G	A	8808354	3	1	79	1	0	0	0	0	1	0	0	0	203	1087	38	1	556	1	ACTL9	19	8808354	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	8808354	50320629	18541	28858			1	18		5	5	324	N	G_C	8.704821e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808399	8808399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccaggtccagacgctccGtggcgtggagcaggttgtag	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808399G>A	ENST00000324436.3	-	1	773	c.653C>T	c.(652-654)aCg>aTg	p.T218M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	218						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						CAGACGCTCCGTGGCGTGGAG	0.682																																						ENST00000324436.3																			0				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						c.(652-654)aCg>aTg		actin-like 9							45	43	44					19																	8808399		2203	4299	6502	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808399G>A		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.653C>T	19.37:g.8808399G>A	ENSP00000316674:p.Thr218Met						p.T218M	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	773	-			218					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.653C>T	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173331	0.38413	.	.	ENSG00000181786	ENST00000324436	D	0.94650	-3.48	4.55	3.32	0.38043	.	0.481200	0.17329	N	0.178213	D	0.93177	0.7827	L	0.54965	1.715	0.25461	N	0.987911	D	0.60575	0.988	P	0.50934	0.654	D	0.86983	0.2105	10	0.87932	D	0	.	6.5417	0.22385	0.2932:0.0:0.7068:0.0	.	218	Q8TC94	ACTL9_HUMAN	M	218	ENSP00000316674:T218M	ENSP00000316674:T218M	T	-	2	0	ACTL9	8669399	0.463000	0.25799	0.842000	0.33263	0.863000	0.49368	1.042000	0.30303	0.920000	0.36970	0.462000	0.41574	ACG		0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		7	331	0	0	0	1	0	7	331					A	8808399	G	A	8808399	3	1	79	1	0	0	0	0	1	0	0	0	203	1145	40	1	601	1	ACTL9	19	8808399	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45	8808399	50320584	18542	28859			1	18		5	5	324	N	G_C	8.704821e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttgtagccctggaagaCgggcactgtgtaggtgaccc	15	10	0	2	rs139329295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808430C>T	ENST00000324436.3	-	1	742	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	208						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						CCCTGGAAGACGGGCACTGTG	0.667																																						ENST00000324436.3																			0				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						c.(622-624)Gtc>Atc		actin-like 9							49	46	47					19																	8808430		2203	4300	6503	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8808430C>T		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.622G>A	19.37:g.8808430C>T	ENSP00000316674:p.Val208Ile						p.V208I	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	742	-			208					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.622G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253424	0.22965	.	.	ENSG00000181786	ENST00000324436	D	0.95622	-3.76	4.34	4.34	0.51931	.	0.000000	0.41500	D	0.000878	D	0.87281	0.6138	L	0.28192	0.835	0.30637	N	0.756871	P	0.39131	0.661	B	0.32762	0.152	T	0.83212	-0.0073	10	0.02654	T	1	.	9.7105	0.40243	0.0:0.9027:0.0:0.0973	.	208	Q8TC94	ACTL9_HUMAN	I	208	ENSP00000316674:V208I	ENSP00000316674:V208I	V	-	1	0	ACTL9	8669430	0.788000	0.28762	0.972000	0.41901	0.959000	0.62525	1.294000	0.33365	2.420000	0.82092	0.462000	0.41574	GTC		0.667	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		64	265	0	0	0	1	0	64	265					T	8808430	C	T	8808430	3	4	79	1	0	0	0	0	1	0	0	0	203	536	19	1	632	1	ACTL9	19	8808430	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	8808430	50320553	18543	28860			1	18		5	5	324	N	G_C	8.704821e-05
ACTL9	284382	broad.mit.edu	37	chr19	8808659	8808659	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaggtcgtgctccagcagGtggcgccagatgagctcggc	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808659G>A	ENST00000324436.3	-	1	513	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	131						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						GCTCCAGCAGGTGGCGCCAGA	0.697																																						ENST00000324436.3																			0				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						c.(391-393)caC>caT		actin-like 9							32	38	36					19																	8808659		2201	4295	6496	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808659G>A		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.393C>T	19.37:g.8808659G>A							p.H131H	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	513	-			131					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.393C>T	CCDS12207.1																																																																																				0.697	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		72	287	0	0	0	1	0	72	287					A	8808659	G	A	8808659	2	1	79	1	0	0	0	0	0	0	0	1	203	1252	44	2		2	ACTL9	19	8808659	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229	8808659	50320324	18544	28861			1	18		5	5	324	N	G_C	8.704821e-05
OR2Z1	284383	broad.mit.edu	37	chr19	8841503	8841503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtcatgtttgtcatagGccttctgggcaacaccgttc	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841503G>A	ENST00000324060.2	+	1	188	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	38						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						TTTGTCATAGGCCTTCTGGGC	0.542																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(112-114)gGc>gAc		olfactory receptor, family 2, subfamily Z, member 1							145	123	130					19																	8841503		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841503G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.113G>A	19.37:g.8841503G>A	ENSP00000316284:p.Gly38Asp						p.G38D	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	188	+			38					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.113G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974594	0.53720	.	.	ENSG00000181733	ENST00000324060	T	0.01092	5.35	4.33	3.16	0.36331	.	0.369647	0.22845	N	0.054923	T	0.02380	0.0073	L	0.52905	1.665	0.09310	N	1	P	0.50617	0.937	P	0.49561	0.615	T	0.38308	-0.9667	10	0.87932	D	0	.	10.1776	0.42948	0.0:0.3736:0.6264:0.0	.	38	Q8NG97	OR2Z1_HUMAN	D	38	ENSP00000316284:G38D	ENSP00000316284:G38D	G	+	2	0	OR2Z1	8702503	0.263000	0.24083	0.040000	0.18447	0.014000	0.08584	1.834000	0.39171	2.182000	0.69389	0.543000	0.68304	GGC		0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			21	420	0	0	0	1	0	21	420					A	8841503	G	A	8841503	3	1	79	1	0	0	0	0	1	0	0	0	11078	1203	42	2	115	2	OR2Z1	19	8841503	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32844	8841503	50287480	18545	28862											
OR2Z1	284383	broad.mit.edu	37	chr19	8841551	8841551	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgatccgtgtggactcccGgctccatacacccatgtact	8	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841551G>A	ENST00000324060.2	+	1	236	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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						GTGGACTCCCGGCTCCATACA	0.552																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(160-162)cGg>cAg		olfactory receptor, family 2, subfamily Z, member 1							159	141	147					19																	8841551		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841551G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.161G>A	19.37:g.8841551G>A	ENSP00000316284:p.Arg54Gln						p.R54Q	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	236	+			54					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.161G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	5.987	0.366061	0.11352	.	.	ENSG00000181733	ENST00000324060	T	0.01119	5.31	4.23	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.252434	0.26231	N	0.025561	T	0.00875	0.0029	N	0.13299	0.325	0.09310	N	1	B	0.22604	0.072	B	0.17433	0.018	T	0.49952	-0.8884	10	0.26408	T	0.33	.	9.3472	0.38115	0.1149:0.0:0.8851:0.0	.	54	Q8NG97	OR2Z1_HUMAN	Q	54	ENSP00000316284:R54Q	ENSP00000316284:R54Q	R	+	2	0	OR2Z1	8702551	0.000000	0.05858	0.229000	0.23960	0.081000	0.17604	-0.176000	0.09811	0.885000	0.36088	0.543000	0.68304	CGG		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			114	479	0	0	0	1	0	114	479					A	8841551	G	A	8841551	3	1	79	1	0	0	0	0	1	0	0	0	11078	1116	39	1	163	1	OR2Z1	19	8841551	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48	8841551	50287432	18546	28863											
OR2Z1	284383	broad.mit.edu	37	chr19	8842076	8842076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgttctaagcatgcGctcagaggaggccagacaca	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8842076G>A	ENST00000324060.2	+	1	761	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	229						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						CTAAGCATGCGCTCAGAGGAG	0.587																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(685-687)cGc>cAc		olfactory receptor, family 2, subfamily Z, member 1							113	90	98					19																	8842076		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842076G>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.686G>A	19.37:g.8842076G>A	ENSP00000316284:p.Arg229His						p.R229H	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	761	+			229					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.686G>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	0.640	-0.813852	0.02798	.	.	ENSG00000181733	ENST00000324060	T	0.39229	1.09	4.67	-2.35	0.06684	GPCR, rhodopsin-like superfamily (1);	0.737439	0.12441	N	0.468674	T	0.13329	0.0323	N	0.02225	-0.63	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.30327	-0.9982	10	0.15499	T	0.54	.	4.9972	0.14245	0.5627:0.1712:0.2661:0.0	.	229	Q8NG97	OR2Z1_HUMAN	H	229	ENSP00000316284:R229H	ENSP00000316284:R229H	R	+	2	0	OR2Z1	8703076	0.000000	0.05858	0.847000	0.33407	0.021000	0.10359	-0.920000	0.04013	-0.100000	0.12241	-0.287000	0.09952	CGC		0.587	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			70	293	0	0	0	1	0	70	293					A	8842076	G	A	8842076	3	1	79	1	0	0	0	0	1	0	0	0	11078	1087	38	1	688	1	OR2Z1	19	8842076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525	8842076	50286907	18547	28864											
ZNF558	148156	broad.mit.edu	37	chr19	8931980	8931980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcctcgaaggttaccaaGccctaaagcattgcaaacat	6	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8931980G>A	ENST00000601372.1	-	7	834	c.123C>T	c.(121-123)ggC>ggT	p.G41G	ZNF558_ENST00000444186.2_5'UTR|ZNF558_ENST00000599938.1_5'Flank|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_Silent_p.G41G			Q96NG5	ZN558_HUMAN	zinc finger protein 558	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGGTTACCAAGCCCTAAAGCA	0.587																																						ENST00000601372.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(121-123)ggC>ggT		zinc finger protein 558							154	136	142					19																	8931980		2203	4300	6503	SO:0001819	synonymous_variant	148156				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:8931980G>A	AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.123C>T	19.37:g.8931980G>A						ZNF558_ENST00000301475.1_Silent_p.G41G|ZNF558_ENST00000444186.2_5'UTR	p.G41G			Q96NG5	ZN558_HUMAN			7	834	-			41					A8K5F0|B7Z798	Silent	SNP	ENST00000601372.1	37	c.123C>T	CCDS12208.1																																																																																				0.587	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459955.2	NM_144693		100	370	0	0	0	1	0	100	370					A	8931980	G	A	8931980	2	1	79	1	0	0	0	0	0	0	0	1	18042	958	34	2		2	ZNF558	19	8931980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89904	8931980	50197003	18548	28865											
MBD3L1	85509	broad.mit.edu	37	chr19	8953519	8953519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcagataccatcaatgGgaggagagcttggagaagcc	15	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8953519G>T	ENST00000595891.1	+	3	396	c.165G>T	c.(163-165)tgG>tgT	p.W55C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	55	Transcription repressor.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						ACCATCAATGGGAGGAGAGCT	0.512																																						ENST00000595891.1																			0				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						c.(163-165)tgG>tgT		methyl-CpG binding domain protein 3-like 1							101	93	96					19																	8953519		2203	4300	6503	SO:0001583	missense	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953519G>T	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"methyl-CpG binding domain protein 3-like"	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.165G>T	19.37:g.8953519G>T	ENSP00000471575:p.Trp55Cys					MBD3L1_ENST00000305625.2_Missense_Mutation_p.W55C	p.W55C			Q8WWY6	MB3L1_HUMAN			3	396	+			55			Transcription repressor.		B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	c.165G>T	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387116	0.42308	.	.	ENSG00000170948	ENST00000305625	T	0.42900	0.96	3.92	3.92	0.45320	.	0.000000	0.30850	N	0.008744	T	0.56352	0.1979	M	0.65975	2.015	0.48341	D	0.999633	D	0.76494	0.999	P	0.61800	0.894	T	0.58399	-0.7643	10	0.54805	T	0.06	-13.1406	11.7393	0.51784	0.0:0.0:1.0:0.0	.	55	Q8WWY6	MB3L1_HUMAN	C	55	ENSP00000304198:W55C	ENSP00000304198:W55C	W	+	3	0	MBD3L1	8814519	1.000000	0.71417	0.958000	0.39756	0.543000	0.35085	3.640000	0.54350	2.459000	0.83118	0.655000	0.94253	TGG		0.512	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		69	313	1	0	2.23399e-28	1	2.59905e-28	69	313					T	8953519	G	T	8953519	3	4	79	1	0	0	0	0	1	0	0	0	9386	1241	43	3	167	3	MBD3L1	19	8953519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21539	8953519	50175464	18549	28866											
MUC16	94025	broad.mit.edu	37	chr19	8973992	8973992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcctggatgtccctcaGcagggtgatgtactctgagg	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8973992G>T	ENST00000397910.4	-	76	42882	c.42679C>A	c.(42679-42681)Ctg>Atg	p.L14227M	MUC16_ENST00000380951.5_Missense_Mutation_p.L868M|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14290				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						ATGTCCCTCAGCAGGGTGATG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42679-42681)Ctg>Atg		mucin 16, cell surface associated							106	109	108					19																	8973992		1982	4158	6140	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8973992G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42679C>A	19.37:g.8973992G>T	ENSP00000381008:p.Leu14227Met					MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.L868M	p.L14227M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			76	42882	-			14290	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42679C>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.859|8.859	0.946373|0.946373	0.18356|0.18356	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32988	.|1.43;1.43	4.57|4.57	0.89|0.89	0.19218|0.19218	.|SEA (1);	.|1.613830	.|0.04579	.|N	.|0.394628	.|T	.|0.57533	.|0.2060	M|M	0.85542|0.85542	2.76|2.76	.|.	.|.	.|.	.|B;D	.|0.58970	.|0.245;0.984	.|B;D	.|0.73708	.|0.126;0.981	.|T	.|0.40403	.|-0.9565	.|9	.|0.34782	.|T	.|0.22	.|.	7.68|7.68	0.28507|0.28507	0.0:0.3544:0.4759:0.1697|0.0:0.3544:0.4759:0.1697	.|.	.|21872;14227	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	X|M	1049|14227;868	.|ENSP00000381008:L14227M;ENSP00000370338:L868M	.|ENSP00000370338:L868M	C|L	-|-	3|1	2|2	MUC16|MUC16	8834992|8834992	0.000000|0.000000	0.05858|0.05858	0.272000|0.272000	0.24630|0.24630	0.054000|0.054000	0.15201|0.15201	-0.019000|-0.019000	0.12546|0.12546	0.190000|0.190000	0.20209|0.20209	0.609000|0.609000	0.83330|0.83330	TGC|CTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	57	1	0	3.27435e-08	1	3.41456e-08	15	57					T	8973992	G	T	8973992	3	4	79	1	0	0	0	0	1	0	0	0	10014	962	34	3	880	3	MUC16	19	8973992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20473	8973992	50154991	18550	28867											
MUC16	94025	broad.mit.edu	37	chr19	8974076	8974076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttatctggtactcgccccGgattgataaattctggggtg	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8974076G>A	ENST00000397910.4	-	76	42798	c.42595C>T	c.(42595-42597)Cgg>Tgg	p.R14199W	MUC16_ENST00000380951.5_Missense_Mutation_p.R840W|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14244	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TACTCGCCCCGGATTGATAAA	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42595-42597)Cgg>Tgg		mucin 16, cell surface associated							93	88	90					19																	8974076		1884	4115	5999	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8974076G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42595C>T	19.37:g.8974076G>A	ENSP00000381008:p.Arg14199Trp					MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.R840W	p.R14199W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			76	42798	-			14230	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42595C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.771491	0.31320	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.01981	4.52	4.64	-3.0	0.05480	.	2.408930	0.02423	N	0.082720	T	0.04861	0.0131	M	0.78637	2.42	.	.	.	B;P	0.41643	0.002;0.758	B;B	0.38954	0.002;0.286	T	0.47522	-0.9111	9	0.51188	T	0.08	.	8.8916	0.35437	0.5282:0.0:0.4718:0.0	.	21844;14199	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14199;840	ENSP00000381008:R14199W	ENSP00000370338:R840W	R	-	1	2	MUC16	8835076	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.189000	0.17037	-0.452000	0.07087	-0.766000	0.03442	CGG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	68	0	0	0	1	0	10	68					A	8974076	G	A	8974076	3	1	79	1	0	0	0	0	1	0	0	0	10014	1115	39	1	964	1	MUC16	19	8974076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	8974076	50154907	18551	28868											
MUC16	94025	broad.mit.edu	37	chr19	8982221	8982221	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgatgccatgggtctgCtggctcagctcatggaacac	14	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8982221C>A	ENST00000397910.4	-	70	42257	c.42054G>T	c.(42052-42054)caG>caT	p.Q14018H	MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14043	SEA 13. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGGGTCTGCTGGCTCAGCT	0.622																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42052-42054)caG>caT		mucin 16, cell surface associated							52	56	54					19																	8982221		2031	4177	6208	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8982221C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42054G>T	19.37:g.8982221C>A	ENSP00000381008:p.Gln14018His					MUC16_ENST00000380951.5_Missense_Mutation_p.Q659H	p.Q14018H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			70	42257	-			14043	Missing (in Ref. 3; AAK74120).		SEA 13.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42054G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.472|8.472	0.857870|0.857870	0.17178|0.17178	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.47869|.	0.83;0.83|.	3.89|3.89	1.58|1.58	0.23477|0.23477	SEA (1);|.	2.222600|.	0.02344|.	N|.	0.075212|.	T|T	0.33323|0.33323	0.0859|0.0859	L|L	0.41415|0.41415	1.275|1.275	.|.	.|.	.|.	B;D|.	0.53312|.	0.016;0.959|.	B;D|.	0.67725|.	0.006;0.953|.	T|T	0.37033|0.37033	-0.9723|-0.9723	9|4	0.37606|.	T|.	0.19|.	.|.	3.9472|3.9472	0.09353|0.09353	0.226:0.6371:0.0:0.1369|0.226:0.6371:0.0:0.1369	.|.	21663;14018|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	H|I	14018;659|858	ENSP00000381008:Q14018H;ENSP00000370338:Q659H|.	ENSP00000370338:Q659H|.	Q|S	-|-	3|2	2|0	MUC16|MUC16	8843221|8843221	0.243000|0.243000	0.23878|0.23878	0.635000|0.635000	0.29338|0.29338	0.009000|0.009000	0.06853|0.06853	0.278000|0.278000	0.18753|0.18753	0.510000|0.510000	0.28216|0.28216	-0.291000|-0.291000	0.09656|0.09656	CAG|AGC		0.622	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		17	226	1	0	3.41278e-10	1	3.61262e-10	17	226					A	8982221	C	A	8982221	3	1	79	1	0	0	0	0	1	0	0	0	10014	796	28	3	1529	3	MUC16	19	8982221	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8145	8982221	50146762	18552	28869											
MUC16	94025	broad.mit.edu	37	chr19	8995635	8995635	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccattgactggtacttacCtgaagggccaaatatcgagg	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	ENST00000397910.4	-	63	41556	c.41353G>A	c.(41353-41355)Gct>Act	p.A13785T	MUC16_ENST00000380951.5_Splice_Site_p.A426T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13787				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						TGGTACTTACCTGAAGGGCCA	0.438																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e63+1		mucin 16, cell surface associated							55	53	54					19																	8995635		1911	4126	6037	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8995635C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41353+1G>A	19.37:g.8995635C>T						MUC16_ENST00000380951.5_Splice_Site_p.A426_splice	p.A13785_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			63	41556	-			13787	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.41353_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322407	0.23994	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.37058	1.22;1.22	1.27	1.27	0.21489	.	.	.	.	.	T	0.34600	0.0903	N	0.16368	0.405	.	.	.	D;P	0.57571	0.98;0.954	P;D	0.66351	0.892;0.943	T	0.38351	-0.9665	7	.	.	.	.	5.9958	0.19493	0.0:1.0:0.0:0.0	.	21430;13785	Q8WXI7;B5ME49	MUC16_HUMAN;.	T	13785;426	ENSP00000381008:A13785T;ENSP00000370338:A426T	.	A	-	1	0	MUC16	8856635	0.138000	0.22547	0.012000	0.15200	0.019000	0.09904	0.967000	0.29344	1.038000	0.40049	0.436000	0.28706	GCT		0.438	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	15	61	0	0	0	1	0	15	61					T	8995635	C	T	8995635	5	4	79	1	0	0	0	0	0	0	1	0	10014	695	24	2	2258	2	MUC16	19	8995635	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13414	8995635	50133348	18553	28870											
MUC16	94025	broad.mit.edu	37	chr19	8997154	8997154	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccagagtacagagggCcaacactggtgctcttgaac	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8997154C>T	ENST00000397910.4	-	60	41245	c.41042G>A	c.(41041-41043)gGc>gAc	p.G13681D	MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13683	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACAGAGGGCCAACACTGGT	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41041-41043)gGc>gAc		mucin 16, cell surface associated							112	92	98					19																	8997154		1988	4166	6154	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8997154C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41042G>A	19.37:g.8997154C>T	ENSP00000381008:p.Gly13681Asp					MUC16_ENST00000380951.5_Missense_Mutation_p.G322D	p.G13681D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			60	41245	-			13683	Missing (in Ref. 3; AAK74120).		SEA 11.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41042G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.24|13.24	2.178015|2.178015	0.38511|0.38511	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.39592	.|1.07;1.07	2.76|2.76	1.68|1.68	0.24146|0.24146	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.64091|0.64091	0.2567|0.2567	M|M	0.88105|0.88105	2.93|2.93	.|.	.|.	.|.	.|D;D	.|0.89917	.|0.997;1.0	.|P;D	.|0.85130	.|0.874;0.997	T|T	0.69383|0.69383	-0.5160|-0.5160	4|8	.|0.54805	.|T	.|0.06	-12.8308|-12.8308	6.5941|6.5941	0.22664|0.22664	0.3266:0.6734:0.0:0.0|0.3266:0.6734:0.0:0.0	.|.	.|21326;13681	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	T|D	521|13681;322	.|ENSP00000381008:G13681D;ENSP00000370338:G322D	.|ENSP00000370338:G322D	A|G	-|-	1|2	0|0	MUC16|MUC16	8858154|8858154	0.073000|0.073000	0.21202|0.21202	0.002000|0.002000	0.10522|0.10522	0.098000|0.098000	0.18820|0.18820	1.582000|1.582000	0.36568|0.36568	0.661000|0.661000	0.30985|0.30985	0.400000|0.400000	0.26472|0.26472	GCC|GGC		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		62	285	0	0	0	1	0	62	285					T	8997154	C	T	8997154	3	4	79	1	0	0	0	0	1	0	0	0	10014	739	26	2	2581	2	MUC16	19	8997154	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1519	8997154	50131829	18554	28871											
MUC16	94025	broad.mit.edu	37	chr19	8999547	8999547	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcatccactttggtggctGccccatccttcttgggcctg	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8999547G>A	ENST00000397910.4	-	56	40831	c.40628C>T	c.(40627-40629)gCa>gTa	p.A13543V	MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13545	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGGTGGCTGCCCCATCCTT	0.597																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40627-40629)gCa>gTa		mucin 16, cell surface associated							76	67	70					19																	8999547		1934	4124	6058	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8999547G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40628C>T	19.37:g.8999547G>A	ENSP00000381008:p.Ala13543Val					MUC16_ENST00000380951.5_Missense_Mutation_p.A184V	p.A13543V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			56	40831	-			13545	Missing (in Ref. 3; AAK74120).		SEA 10.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40628C>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.55|12.55	1.972987|1.972987	0.34848|0.34848	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.44881|.	0.91;0.91|.	3.48|3.48	-3.76|-3.76	0.04359|0.04359	SEA (2);|.	.|.	.|.	.|.	.|.	T|.	0.40670|.	0.1126|.	L|L	0.49126|0.49126	1.545|1.545	.|.	.|.	.|.	P;D|.	0.55385|.	0.901;0.971|.	P;D|.	0.68192|.	0.456;0.956|.	T|.	0.50127|.	-0.8864|.	8|.	0.46703|.	T|.	0.11|.	0.184|0.184	6.1059|6.1059	0.20073|0.20073	0.1102:0.0:0.2301:0.6598|0.1102:0.0:0.2301:0.6598	.|.	21188;13543|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	V|X	13543;184|383	ENSP00000381008:A13543V;ENSP00000370338:A184V|.	ENSP00000370338:A184V|.	A|Q	-|-	2|1	0|0	MUC16|MUC16	8860547|8860547	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	-0.010000|-0.010000	0.12743|0.12743	-0.401000|-0.401000	0.07644|0.07644	-0.320000|-0.320000	0.08662|0.08662	GCA|CAG		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		103	309	0	0	0	1	0	103	309					A	8999547	G	A	8999547	3	1	79	1	0	0	0	0	1	0	0	0	10014	1319	46	2	3011	2	MUC16	19	8999547	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2393	8999547	50129436	18555	28872											
MUC16	94025	broad.mit.edu	37	chr19	9000566	9000566	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaggagagggctggcgGctatagtgaagatgggaaat	17	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	ENST00000397910.4	-	54	40621	c.40418C>T	c.(40417-40419)aCc>aTc	p.T13473I	MUC16_ENST00000380951.5_Splice_Site_p.T114I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13475					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						AGGGCTGGCGGCTATAGTGAA	0.393																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e54-1		mucin 16, cell surface associated							127	105	112					19																	9000566		1905	4125	6030	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000566G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40418-1C>T	19.37:g.9000566G>A						MUC16_ENST00000380951.5_Splice_Site_p.T114_splice	p.T13473_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			54	40621	-			13475					Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.40417_splice	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.513|7.513	0.655018|0.655018	0.14580|0.14580	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.32515	.|1.45;1.96	2.84|2.84	1.78|1.78	0.24846|0.24846	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.25865|0.25865	0.0630|0.0630	N|N	0.03608|0.03608	-0.345|-0.345	.|.	.|.	.|.	.|B;D	.|0.60575	.|0.012;0.988	.|B;D	.|0.71656	.|0.001;0.974	T|T	0.28964|0.28964	-1.0027|-1.0027	4|8	.|0.54805	.|T	.|0.06	.|.	5.6625|5.6625	0.17676|0.17676	0.1621:0.0:0.8379:0.0|0.1621:0.0:0.8379:0.0	.|.	.|21118;13473	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	313|13473;114	.|ENSP00000381008:T13473I;ENSP00000370338:T114I	.|ENSP00000370338:T114I	P|T	-|-	1|2	0|0	MUC16|MUC16	8861566|8861566	0.100000|0.100000	0.21855|0.21855	0.019000|0.019000	0.16419|0.16419	0.008000|0.008000	0.06430|0.06430	0.170000|0.170000	0.16663|0.16663	0.535000|0.535000	0.28714|0.28714	0.281000|0.281000	0.19383|0.19383	CCG|ACC		0.393	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	59	237	0	0	0	1	0	59	237					A	9000566	G	A	9000566	5	1	79	1	0	0	0	0	0	0	1	0	10014	1217	42	2	3229	2	MUC16	19	9000566	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1019	9000566	50128417	18556	28873											
MUC16	94025	broad.mit.edu	37	chr19	9002161	9002161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttaatactcacttctggtgGtcgtcatagagctctgatgg	11	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9002161G>A	ENST00000397910.4	-	52	40546	c.40343C>T	c.(40342-40344)aCc>aTc	p.T13448I	MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13450					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						ACTTCTGGTGGTCGTCATAGA	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(40342-40344)aCc>aTc		mucin 16, cell surface associated							96	85	89					19																	9002161		1971	4145	6116	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9002161G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40343C>T	19.37:g.9002161G>A	ENSP00000381008:p.Thr13448Ile					MUC16_ENST00000380951.5_Missense_Mutation_p.T89I	p.T13448I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			52	40546	-			13450					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40343C>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.235|3.235	-0.156656|-0.156656	0.06544|0.06544	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.33654	.|1.4;1.4	1.38|1.38	-2.76|-2.76	0.05896|0.05896	.|.	.|.	.|.	.|.	.|.	T|T	0.42585|0.42585	0.1209|0.1209	L|L	0.48642|0.48642	1.525|1.525	.|.	.|.	.|.	.|B;D	.|0.61697	.|0.001;0.99	.|B;D	.|0.74348	.|0.0;0.983	T|T	0.44787|0.44787	-0.9305|-0.9305	4|8	.|0.40728	.|T	.|0.16	.|.	3.7638|3.7638	0.08615|0.08615	0.3283:0.3967:0.275:0.0|0.3283:0.3967:0.275:0.0	.|.	.|21093;13448	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|I	288|13448;89	.|ENSP00000381008:T13448I;ENSP00000370338:T89I	.|ENSP00000370338:T89I	P|T	-|-	1|2	0|0	MUC16|MUC16	8863161|8863161	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.122000|0.122000	0.20287|0.20287	-2.921000|-2.921000	0.00693|0.00693	-1.763000|-1.763000	0.01307|0.01307	0.274000|0.274000	0.19336|0.19336	CCA|ACC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	96	0	0	0	1	0	12	96					A	9002161	G	A	9002161	3	1	79	1	0	0	0	0	1	0	0	0	10014	1261	44	2	3312	2	MUC16	19	9002161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1595	9002161	50126822	18557	28874											
MUC16	94025	broad.mit.edu	37	chr19	9015664	9015664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgttgaacttcctggagCcagggcaatgcatgtcctcc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9015664C>T	ENST00000397910.4	-	29	38362	c.38159G>A	c.(38158-38160)gGc>gAc	p.G12720D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12722	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			H -> C (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						CTTCCTGGAGCCAGGGCAATG	0.547																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38158-38160)gGc>gAc		mucin 16, cell surface associated							191	170	177					19																	9015664		2009	4165	6174	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015664C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38159G>A	19.37:g.9015664C>T	ENSP00000381008:p.Gly12720Asp						p.G12720D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			29	38362	-			12722	H -> C (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38159G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	11.83	1.754823	0.31046	.	.	ENSG00000181143	ENST00000397910	T	0.62941	-0.01	3.44	2.36	0.29203	.	.	.	.	.	T	0.74458	0.3719	M	0.73430	2.235	.	.	.	D	0.76494	0.999	D	0.91635	0.999	T	0.78947	-0.2003	8	0.87932	D	0	.	7.2608	0.26201	0.0:0.8579:0.0:0.1421	.	12720	B5ME49	.	D	12720	ENSP00000381008:G12720D	ENSP00000381008:G12720D	G	-	2	0	MUC16	8876664	0.000000	0.05858	0.016000	0.15963	0.103000	0.19146	0.069000	0.14552	1.616000	0.50265	0.305000	0.20034	GGC		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		121	576	0	0	0	1	0	121	576					T	9015664	C	T	9015664	3	4	79	1	0	0	0	0	1	0	0	0	10014	739	26	2	5588	2	MUC16	19	9015664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13503	9015664	50113319	18558	28875											
MUC16	94025	broad.mit.edu	37	chr19	9046155	9046155	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgctggttccagttacaaGtagggtgaagagagaggatg	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046155G>T	ENST00000397910.4	-	5	35679	c.35476C>A	c.(35476-35478)Ctt>Att	p.L11826I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11828	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						CCAGTTACAAGTAGGGTGAAG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35476-35478)Ctt>Att		mucin 16, cell surface associated							69	69	69					19																	9046155		2006	4172	6178	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046155G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35476C>A	19.37:g.9046155G>T	ENSP00000381008:p.Leu11826Ile						p.L11826I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35679	-			11828			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35476C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604682	0.14002	.	.	ENSG00000181143	ENST00000397910	T	0.03496	3.91	2.32	-1.49	0.08718	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	.	.	.	P	0.46020	0.871	B	0.41036	0.346	T	0.39333	-0.9619	8	0.87932	D	0	.	3.3382	0.07108	0.2855:0.0:0.5162:0.1983	.	11826	B5ME49	.	I	11826	ENSP00000381008:L11826I	ENSP00000381008:L11826I	L	-	1	0	MUC16	8907155	0.000000	0.05858	0.000000	0.03702	0.178000	0.23041	-0.672000	0.05244	-0.245000	0.09625	0.305000	0.20034	CTT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		54	192	1	0	3.77171e-38	1	4.54164e-38	54	192					T	9046155	G	T	9046155	3	4	79	1	0	0	0	0	1	0	0	0	10014	1029	36	3	8367	3	MUC16	19	9046155	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30491	9046155	50082828	18559	28876											
MUC16	94025	broad.mit.edu	37	chr19	9046323	9046323	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcaataaggctgtggTctctggcataccaggagaat	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046323T>C	ENST00000397910.4	-	5	35511	c.35308A>G	c.(35308-35310)Acc>Gcc	p.T11770A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11772	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						AAGGCTGTGGTCTCTGGCATA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35308-35310)Acc>Gcc		mucin 16, cell surface associated							132	126	128					19																	9046323		2012	4191	6203	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046323T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35308A>G	19.37:g.9046323T>C	ENSP00000381008:p.Thr11770Ala						p.T11770A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35511	-			11772			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35308A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.046	0.563457	0.13498	.	.	ENSG00000181143	ENST00000397910	T	0.02050	4.48	3.57	1.5	0.22942	.	.	.	.	.	T	0.02533	0.0077	L	0.43152	1.355	.	.	.	P	0.35745	0.518	B	0.36378	0.223	T	0.30851	-0.9964	8	0.87932	D	0	.	5.016	0.14337	0.0:0.2506:0.0:0.7494	.	11770	B5ME49	.	A	11770	ENSP00000381008:T11770A	ENSP00000381008:T11770A	T	-	1	0	MUC16	8907323	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	0.377000	0.20552	0.270000	0.21984	0.454000	0.30748	ACC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		62	245	0	0	0	1	0	62	245					C	9046323	T	C	9046323	3	2	79	1	0	0	0	0	1	0	0	0	10014	1667	58	4	8535	4	MUC16	19	9046323	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	168	9046323	50082660	18560	28877											
MUC16	94025	broad.mit.edu	37	chr19	9047105	9047105	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgacttactatgggaaAacttgggagttgtcctggga	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047105A>C	ENST00000397910.4	-	5	34729	c.34526T>G	c.(34525-34527)tTt>tGt	p.F11509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11511	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						ACTATGGGAAAACTTGGGAGT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34525-34527)tTt>tGt		mucin 16, cell surface associated							150	146	148					19																	9047105		2058	4202	6260	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047105A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34526T>G	19.37:g.9047105A>C	ENSP00000381008:p.Phe11509Cys						p.F11509C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34729	-			11511			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34526T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.552	-0.091455	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02197	4.4	2.48	1.45	0.22620	.	.	.	.	.	T	0.05640	0.0148	L	0.55481	1.735	.	.	.	D	0.61080	0.989	P	0.59012	0.85	T	0.25152	-1.0140	8	0.87932	D	0	.	4.1958	0.10443	0.8262:0.0:0.1738:0.0	.	11509	B5ME49	.	C	11509	ENSP00000381008:F11509C	ENSP00000381008:F11509C	F	-	2	0	MUC16	8908105	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.007000	0.12810	0.381000	0.24851	0.478000	0.44815	TTT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		88	433	0	0	0	1	0	88	433					C	9047105	A	C	9047105	3	2	79	1	0	0	0	0	1	0	0	0	10014	14	1	4	9317	4	MUC16	19	9047105	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	782	9047105	50081878	18561	28878											
MUC16	94025	broad.mit.edu	37	chr19	9047793	9047793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaaaccttgaggttgTcctgggaagagttgagctac	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047793T>C	ENST00000397910.4	-	5	34041	c.33838A>G	c.(33838-33840)Aca>Gca	p.T11280A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11282	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						CTTGAGGTTGTCCTGGGAAGA	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33838-33840)Aca>Gca		mucin 16, cell surface associated							63	57	59					19																	9047793		1948	4159	6107	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047793T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33838A>G	19.37:g.9047793T>C	ENSP00000381008:p.Thr11280Ala						p.T11280A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	34041	-			11282			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33838A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.086	0.201588	0.09652	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.27	1.24	0.21308	.	.	.	.	.	T	0.03136	0.0092	L	0.52573	1.65	.	.	.	P	0.45594	0.862	P	0.44477	0.451	T	0.33879	-0.9851	8	0.87932	D	0	.	4.1022	0.10018	0.0:0.1779:0.0:0.8221	.	11280	B5ME49	.	A	11280	ENSP00000381008:T11280A	ENSP00000381008:T11280A	T	-	1	0	MUC16	8908793	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.040000	0.13905	0.311000	0.23014	0.414000	0.27820	ACA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	101	0	0	0	1	0	19	101					C	9047793	T	C	9047793	3	2	79	1	0	0	0	0	1	0	0	0	10014	1667	58	4	10005	4	MUC16	19	9047793	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	688	9047793	50081190	18562	28879											
MUC16	94025	broad.mit.edu	37	chr19	9048279	9048279	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctctggctcactagaagaaaGagttagaattggaatagttg	11	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048279G>T	ENST00000397910.4	-	5	33555	c.33352C>A	c.(33352-33354)Ctt>Att	p.L11118I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11120	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.L6751F(1)|p.L11118F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGAAGAAAGAGTTAGAATT	0.498																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.L6751F(1)|p.L11118F(1)	prostate(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33352-33354)Ctt>Att		mucin 16, cell surface associated							81	74	76					19																	9048279		1915	4116	6031	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048279G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33352C>A	19.37:g.9048279G>T	ENSP00000381008:p.Leu11118Ile						p.L11118I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33555	-			11120			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33352C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.847	0.157510	0.09236	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02342	0.0072	L	0.40543	1.245	.	.	.	B	0.27656	0.184	B	0.30646	0.118	T	0.43147	-0.9409	8	0.87932	D	0	.	0.4756	0.00539	0.1814:0.21:0.2627:0.3459	.	11118	B5ME49	.	I	11118	ENSP00000381008:L11118I	ENSP00000381008:L11118I	L	-	1	0	MUC16	8909279	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-3.687000	0.00393	-2.006000	0.00958	-0.492000	0.04666	CTT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		77	322	1	0	5.05997e-48	1	6.23844e-48	77	322					T	9048279	G	T	9048279	3	4	79	1	0	0	0	0	1	0	0	0	10014	942	33	3	10491	3	MUC16	19	9048279	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	486	9048279	50080704	18563	28880											
MUC16	94025	broad.mit.edu	37	chr19	9048837	9048837	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccagagaggtcaccactcCtggtaccccaggtgaaacag	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048837C>A	ENST00000397910.4	-	5	32997	c.32794G>T	c.(32794-32796)Gga>Tga	p.G10932*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10934	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						GTCACCACTCCTGGTACCCCA	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32794-32796)Gga>Tga		mucin 16, cell surface associated							115	105	108					19																	9048837		1909	4118	6027	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048837C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32794G>T	19.37:g.9048837C>A	ENSP00000381008:p.Gly10932*						p.G10932*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32997	-			10934			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.32794G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	50.752531	0.99988	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.7	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7297	0.18032	0.0:0.7426:0.0:0.2574	.	.	.	.	X	10932	.	ENSP00000381008:G10932X	G	-	1	0	MUC16	8909837	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.870000	0.04228	0.476000	0.27440	0.586000	0.80456	GGA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		115	449	1	0	8.98033e-41	1	1.08974e-40	115	449					A	9048837	C	A	9048837	4	1	79	1	0	0	0	0	0	1	0	0	10014	690	24	3	11049	3	MUC16	19	9048837	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558	9048837	50080146	18564	28881											
MUC16	94025	broad.mit.edu	37	chr19	9054331	9054331	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggtatttttgtgatgtgttCcataatgccatcagttcctg	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9054331C>A	ENST00000397910.4	-	4	31494	c.31291G>T	c.(31291-31293)Gaa>Taa	p.E10431*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10433	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						GTGATGTGTTCCATAATGCCA	0.458																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31291-31293)Gaa>Taa		mucin 16, cell surface associated							251	237	241					19																	9054331		1958	4165	6123	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9054331C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31291G>T	19.37:g.9054331C>A	ENSP00000381008:p.Glu10431*						p.E10431*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			4	31494	-			10433			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.31291G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	48.001481	0.99987	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.25	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.4466	0.16539	0.0:0.2562:0.1717:0.5721	.	.	.	.	X	10431	.	ENSP00000381008:E10431X	E	-	1	0	MUC16	8915331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.259000	0.08721	-0.925000	0.03775	-0.218000	0.12543	GAA		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	103	1	0	1.64113e-05	1	1.68037e-05	18	103					A	9054331	C	A	9054331	4	1	79	1	0	0	0	0	0	1	0	0	10014	864	30	3	12556	3	MUC16	19	9054331	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5494	9054331	50074652	18565	28882											
MUC16	94025	broad.mit.edu	37	chr19	9057514	9057514	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtccttgccaagggggCtgttgttgtggccaaggtaa	17	7	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9057514C>A	ENST00000397910.4	-	3	30135	c.29932G>T	c.(29932-29934)Gcc>Tcc	p.A9978S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9980	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						GCCAAGGGGGCTGTTGTTGTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29932-29934)Gcc>Tcc		mucin 16, cell surface associated							214	209	211					19																	9057514		1958	4145	6103	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057514C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29932G>T	19.37:g.9057514C>A	ENSP00000381008:p.Ala9978Ser						p.A9978S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30135	-			9980			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29932G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.810	0.333732	0.11013	.	.	ENSG00000181143	ENST00000397910	T	0.23147	1.92	2.13	-3.47	0.04753	.	.	.	.	.	T	0.12475	0.0303	N	0.19112	0.55	.	.	.	B	0.23540	0.087	B	0.26517	0.07	T	0.33445	-0.9868	8	0.87932	D	0	.	0.2525	0.00207	0.2077:0.2926:0.2051:0.2946	.	9978	B5ME49	.	S	9978	ENSP00000381008:A9978S	ENSP00000381008:A9978S	A	-	1	0	MUC16	8918514	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.167000	0.01271	-0.745000	0.04772	0.460000	0.39030	GCC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		200	866	1	0	4.62547e-62	1	5.82772e-62	200	866					A	9057514	C	A	9057514	3	1	79	1	0	0	0	0	1	0	0	0	10014	797	28	3	13919	3	MUC16	19	9057514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3183	9057514	50071469	18566	28883											
MUC16	94025	broad.mit.edu	37	chr19	9058483	9058483	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttatttctgcagattctgTcatgatgggagaggtagaca	13	5	3	4	rs182912100		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9058483T>C	ENST00000397910.4	-	3	29166	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9657	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T5288A(1)|p.T9655A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATTCTGTCATGATGGGA	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		23101	0.001		0.0	False		,,,				2504	0.0					ENST00000397910.4																			2	Substitution - Missense(2)	p.T5288A(1)|p.T9655A(1)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28963-28965)Aca>Gca		mucin 16, cell surface associated							173	152	159					19																	9058483		2003	4169	6172	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058483T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28963A>G	19.37:g.9058483T>C	ENSP00000381008:p.Thr9655Ala						p.T9655A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29166	-			9657			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28963A>G	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	t	3.411	-0.120141	0.06838	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.87	-5.75	0.02384	.	.	.	.	.	T	0.01254	0.0041	N	0.12746	0.255	.	.	.	B	0.16603	0.018	B	0.12837	0.008	T	0.47315	-0.9127	8	0.87932	D	0	.	2.8337	0.05507	0.1338:0.4125:0.2706:0.183	.	9655	B5ME49	.	A	9655	ENSP00000381008:T9655A	ENSP00000381008:T9655A	T	-	1	0	MUC16	8919483	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.607000	0.05648	-2.430000	0.00557	-0.710000	0.03640	ACA		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		80	280	0	0	0	1	0	80	280					C	9058483	T	C	9058483	3	2	79	1	0	0	0	0	1	0	0	0	10014	1667	58	4	14888	4	MUC16	19	9058483	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	969	9058483	50070500	18567	28884											
MUC16	94025	broad.mit.edu	37	chr19	9060121	9060121	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatccttgagatgcagTtgagtgggtccctgacataa	11	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9060121T>A	ENST00000397910.4	-	3	27528	c.27325A>T	c.(27325-27327)Act>Tct	p.T9109S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9111	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						TGAGATGCAGTTGAGTGGGTC	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(27325-27327)Act>Tct		mucin 16, cell surface associated							119	110	113					19																	9060121		1923	4137	6060	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060121T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27325A>T	19.37:g.9060121T>A	ENSP00000381008:p.Thr9109Ser						p.T9109S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27528	-			9111			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27325A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	9.422	1.083164	0.20309	.	.	ENSG00000181143	ENST00000397910	T	0.26223	1.75	2.5	-4.42	0.03579	.	.	.	.	.	T	0.12178	0.0296	N	0.24115	0.695	.	.	.	B	0.23990	0.095	B	0.20767	0.031	T	0.29671	-1.0004	8	0.87932	D	0	.	0.5924	0.00730	0.1927:0.3402:0.1947:0.2725	.	9109	B5ME49	.	S	9109	ENSP00000381008:T9109S	ENSP00000381008:T9109S	T	-	1	0	MUC16	8921121	0.000000	0.05858	0.000000	0.03702	0.363000	0.29612	-2.678000	0.00839	-0.967000	0.03582	0.378000	0.23410	ACT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		75	330	0	0	0	1	0	75	330					A	9060121	T	A	9060121	3	1	79	1	0	0	0	0	1	0	0	0	10014	1725	60	5	16526	5	MUC16	19	9060121	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1638	9060121	50068862	18568	28885											
MUC16	94025	broad.mit.edu	37	chr19	9061129	9061129	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgaggggagtagaaaTtctagtgatggtttccgtgg	17	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9061129T>C	ENST00000397910.4	-	3	26520	c.26317A>G	c.(26317-26319)Att>Gtt	p.I8773V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8775	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						GGAGTAGAAATTCTAGTGATG	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26317-26319)Att>Gtt		mucin 16, cell surface associated							153	138	143					19																	9061129		1966	4152	6118	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061129T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26317A>G	19.37:g.9061129T>C	ENSP00000381008:p.Ile8773Val						p.I8773V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	26520	-			8775			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26317A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.633	0.117590	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.02236	4.38	2.28	-2.41	0.06562	.	.	.	.	.	T	0.01421	0.0046	N	0.19112	0.55	.	.	.	B	0.16603	0.018	B	0.13407	0.009	T	0.48990	-0.8985	8	0.87932	D	0	.	0.0826	0.00033	0.2812:0.2196:0.2523:0.2469	.	8773	B5ME49	.	V	8773	ENSP00000381008:I8773V	ENSP00000381008:I8773V	I	-	1	0	MUC16	8922129	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.877000	0.04197	-0.533000	0.06323	0.248000	0.18094	ATT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		101	388	0	0	0	1	0	101	388					C	9061129	T	C	9061129	3	2	79	1	0	0	0	0	1	0	0	0	10014	1493	52	4	17534	4	MUC16	19	9061129	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1008	9061129	50067854	18569	28886											
MUC16	94025	broad.mit.edu	37	chr19	9062517	9062517	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttctctgcttatgcccatcCtgtctgtggttatcaccagg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9062517C>A	ENST00000397910.4	-	3	25132	c.24929G>T	c.(24928-24930)aGg>aTg	p.R8310M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8312	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						TATGCCCATCCTGTCTGTGGT	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24928-24930)aGg>aTg		mucin 16, cell surface associated							108	101	103					19																	9062517		1958	4156	6114	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062517C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24929G>T	19.37:g.9062517C>A	ENSP00000381008:p.Arg8310Met						p.R8310M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	25132	-			8312			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24929G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.250	-1.007424	0.02112	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	2.58	-5.16	0.02857	.	.	.	.	.	T	0.10380	0.0254	N	0.22421	0.69	.	.	.	B	0.23854	0.092	B	0.21917	0.037	T	0.19549	-1.0302	8	0.87932	D	0	.	0.8857	0.01243	0.3313:0.3119:0.159:0.1978	.	8310	B5ME49	.	M	8310	ENSP00000381008:R8310M	ENSP00000381008:R8310M	R	-	2	0	MUC16	8923517	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.886000	0.00712	-4.006000	0.00082	-0.815000	0.03128	AGG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		102	412	1	0	1.58717e-37	1	1.90651e-37	102	412					A	9062517	C	A	9062517	3	1	79	1	0	0	0	0	1	0	0	0	10014	681	24	3	18922	3	MUC16	19	9062517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1388	9062517	50066466	18570	28887											
MUC16	94025	broad.mit.edu	37	chr19	9066782	9066782	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggtggtttccacattagtCgctgctgtgcttgtggaagg	14	8	0	0	rs547807971	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9066782C>T	ENST00000397910.4	-	3	20867	c.20664G>A	c.(20662-20664)gcG>gcA	p.A6888A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6890	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						CCACATTAGTCGCTGCTGTGC	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		22607	0.0		0.0	False		,,,				2504	0.002					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20662-20664)gcG>gcA		mucin 16, cell surface associated							240	228	232					19																	9066782		2122	4247	6369	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9066782C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20664G>A	19.37:g.9066782C>T							p.A6888A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	20867	-			6890			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20664G>A	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		159	781	0	0	0	1	0	159	781					T	9066782	C	T	9066782	2	4	79	1	0	0	0	0	0	0	0	1	10014	871	31	1		1	MUC16	19	9066782	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4265	9066782	50062201	18571	28888											
MUC16	94025	broad.mit.edu	37	chr19	9067822	9067822	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggtggggagtgaagTcagatgaacaggagaagacg	18	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067822T>C	ENST00000397910.4	-	3	19827	c.19624A>G	c.(19624-19626)Act>Gct	p.T6542A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6544	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						GGGAGTGAAGTCAGATGAACA	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(19624-19626)Act>Gct		mucin 16, cell surface associated							85	78	80					19																	9067822		1935	4119	6054	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067822T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19624A>G	19.37:g.9067822T>C	ENSP00000381008:p.Thr6542Ala						p.T6542A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	19827	-			6544			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19624A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.252	-0.371374	0.05034	.	.	ENSG00000181143	ENST00000397910	T	0.26518	1.73	0.691	0.691	0.18045	.	.	.	.	.	T	0.37019	0.0988	L	0.52573	1.65	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.52260	-0.8599	7	0.87932	D	0	.	.	.	.	.	6542	B5ME49	.	A	6542	ENSP00000381008:T6542A	ENSP00000381008:T6542A	T	-	1	0	MUC16	8928822	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-0.860000	0.04272	0.568000	0.29311	0.149000	0.16113	ACT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	140	0	0	0	1	0	35	140					C	9067822	T	C	9067822	3	2	79	1	0	0	0	0	1	0	0	0	10014	1667	58	4	24227	4	MUC16	19	9067822	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1040	9067822	50061161	18572	28889											
MUC16	94025	broad.mit.edu	37	chr19	9070734	9070734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgatgtagccccaggaGtagttgtttgagtggtgacg	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9070734G>A	ENST00000397910.4	-	3	16915	c.16712C>T	c.(16711-16713)aCt>aTt	p.T5571I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5573	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						AGCCCCAGGAGTAGTTGTTTG	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16711-16713)aCt>aTt		mucin 16, cell surface associated							246	228	234					19																	9070734		2035	4178	6213	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070734G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16712C>T	19.37:g.9070734G>A	ENSP00000381008:p.Thr5571Ile						p.T5571I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16915	-			5573			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16712C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.656	-0.512783	0.04200	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.4	-0.935	0.10423	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.42749	-0.9433	8	0.87932	D	0	.	4.1256	0.10126	0.4334:0.0:0.5666:0.0	.	5571	B5ME49	.	I	5571	ENSP00000381008:T5571I	ENSP00000381008:T5571I	T	-	2	0	MUC16	8931734	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.341000	0.07811	-0.205000	0.10219	-0.703000	0.03666	ACT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		170	774	0	0	0	1	0	170	774					A	9070734	G	A	9070734	3	1	79	1	0	0	0	0	1	0	0	0	10014	1029	36	2	27139	2	MUC16	19	9070734	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2912	9070734	50058249	18573	28890											
MUC16	94025	broad.mit.edu	37	chr19	9071209	9071209	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaatgatgcatggcggcttCtgtgtgtgcagtgtctttgt	15	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9071209C>A	ENST00000397910.4	-	3	16440	c.16237G>T	c.(16237-16239)Gaa>Taa	p.E5413*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5415	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						ATGGCGGCTTCTGTGTGTGCA	0.507																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16237-16239)Gaa>Taa		mucin 16, cell surface associated							455	429	437					19																	9071209		2090	4231	6321	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071209C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16237G>T	19.37:g.9071209C>A	ENSP00000381008:p.Glu5413*						p.E5413*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16440	-			5415			Thr-rich.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.16237G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	56	26.853075	0.99970	.	.	ENSG00000181143	ENST00000397910	.	.	.	2.2	1.06	0.20224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.408	0.21676	0.0:0.6892:0.3108:0.0	.	.	.	.	X	5413	.	ENSP00000381008:E5413X	E	-	1	0	MUC16	8932209	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.965000	0.29319	0.425000	0.26087	0.313000	0.20887	GAA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	2128	1	0	2.32078e-09	1	2.442e-09	30	2128					A	9071209	C	A	9071209	4	1	79	1	0	0	0	0	0	1	0	0	10014	922	32	3	27614	3	MUC16	19	9071209	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	475	9071209	50057774	18574	28891											
MUC16	94025	broad.mit.edu	37	chr19	9072986	9072986	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatgcgttgtctctatAtctgtggtggctgctgaagt	14	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9072986A>G	ENST00000397910.4	-	3	14663	c.14460T>C	c.(14458-14460)gaT>gaC	p.D4820D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4822	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						TTGTCTCTATATCTGTGGTGG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14458-14460)gaT>gaC		mucin 16, cell surface associated							152	142	145					19																	9072986		2075	4219	6294	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072986A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14460T>C	19.37:g.9072986A>G							p.D4820D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	14663	-			4822			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.14460T>C	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		47	237	0	0	0	1	0	47	237					G	9072986	A	G	9072986	2	3	79	1	0	0	0	0	0	0	0	1	10014	446	16	4		4	MUC16	19	9072986	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1777	9072986	50055997	18575	28892											
MUC16	94025	broad.mit.edu	37	chr19	9075035	9075035	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctcaggacctttgctaaaGagagtggtcttctctgagta	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9075035G>T	ENST00000397910.4	-	3	12614	c.12411C>A	c.(12409-12411)ctC>ctA	p.L4137L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4139	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						CTTTGCTAAAGAGAGTGGTCT	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12409-12411)ctC>ctA		mucin 16, cell surface associated							141	131	134					19																	9075035		2043	4182	6225	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075035G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12411C>A	19.37:g.9075035G>T							p.L4137L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12614	-			4139			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12411C>A	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		62	333	1	0	1.08141e-31	1	1.27425e-31	62	333					T	9075035	G	T	9075035	2	4	79	1	0	0	0	0	0	0	0	1	10014	929	33	3		3	MUC16	19	9075035	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2049	9075035	50053948	18576	28893											
MUC16	94025	broad.mit.edu	37	chr19	9084855	9084855	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagtggttggagcagcagaGgtgattgtccttctctctcc	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9084855G>T	ENST00000397910.4	-	1	7163	c.6960C>A	c.(6958-6960)acC>acA	p.T2320T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2320	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						GAGCAGCAGAGGTGATTGTCC	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6958-6960)acC>acA		mucin 16, cell surface associated							90	92	92					19																	9084855		2000	4152	6152	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084855G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6960C>A	19.37:g.9084855G>T							p.T2320T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	7163	-			2320			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.6960C>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		27	121	1	0	3.28513e-13	1	3.54196e-13	27	121					T	9084855	G	T	9084855	2	4	79	1	0	0	0	0	0	0	0	1	10014	987	35	3		3	MUC16	19	9084855	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9820	9084855	50044128	18577	28894											
MUC16	94025	broad.mit.edu	37	chr19	9085462	9085462	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagtgttcaaagtactcGcggctgtattctggggacca	11	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085462G>A	ENST00000397910.4	-	1	6556	c.6353C>T	c.(6352-6354)gCg>gTg	p.A2118V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2118	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						CAAAGTACTCGCGGCTGTATT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6352-6354)gCg>gTg		mucin 16, cell surface associated							129	126	127					19																	9085462		1925	4126	6051	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085462G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6353C>T	19.37:g.9085462G>A	ENSP00000381008:p.Ala2118Val						p.A2118V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6556	-			2118			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6353C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.343569	0.01277	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.49303	-0.8954	7	0.87932	D	0	.	.	.	.	.	2118	B5ME49	.	V	2118	ENSP00000381008:A2118V	ENSP00000381008:A2118V	A	-	2	0	MUC16	8946462	0.005000	0.15991	0.008000	0.14137	0.008000	0.06430	-0.606000	0.05654	-1.808000	0.01234	-1.786000	0.00637	GCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		135	657	0	0	0	1	0	135	657					A	9085462	G	A	9085462	3	1	79	1	0	0	0	0	1	0	0	0	10014	1087	38	1	37506	1	MUC16	19	9085462	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	607	9085462	50043521	18578	28895											
MUC16	94025	broad.mit.edu	37	chr19	9085546	9085546	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgcagctgaaaagagtggaAattcagtcgtagttgaactt	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085546A>C	ENST00000397910.4	-	1	6472	c.6269T>G	c.(6268-6270)tTt>tGt	p.F2090C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2090	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						AAAGAGTGGAAATTCAGTCGT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6268-6270)tTt>tGt		mucin 16, cell surface associated							169	163	165					19																	9085546		1909	4128	6037	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085546A>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6269T>G	19.37:g.9085546A>C	ENSP00000381008:p.Phe2090Cys						p.F2090C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6472	-			2090			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6269T>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.555	-0.847763	0.02651	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.235	0.235	0.15431	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	.	.	.	D	0.67145	0.996	D	0.65773	0.938	T	0.45338	-0.9268	7	0.87932	D	0	.	.	.	.	.	2090	B5ME49	.	C	2090	ENSP00000381008:F2090C	ENSP00000381008:F2090C	F	-	2	0	MUC16	8946546	0.009000	0.17119	0.102000	0.21198	0.102000	0.19082	0.745000	0.26259	0.263000	0.21812	0.260000	0.18958	TTT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		168	724	0	0	0	1	0	168	724					C	9085546	A	C	9085546	3	2	79	1	0	0	0	0	1	0	0	0	10014	14	1	4	37590	4	MUC16	19	9085546	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	84	9085546	50043437	18579	28896											
MUC16	94025	broad.mit.edu	37	chr19	9089523	9089523	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaacggctgagctgggCtttgtctttgttgagatttc	13	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089523C>T	ENST00000397910.4	-	1	2495	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	764	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						CTGAGCTGGGCTTTGTCTTTG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2290-2292)aaG>aaA		mucin 16, cell surface associated							206	209	208					19																	9089523		2083	4225	6308	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089523C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2292G>A	19.37:g.9089523C>T							p.K764K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2495	-			764			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2292G>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		130	613	0	0	0	1	0	130	613					T	9089523	C	T	9089523	2	4	79	1	0	0	0	0	0	0	0	1	10014	796	28	2		2	MUC16	19	9089523	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3977	9089523	50039460	18580	28897											
MUC16	94025	broad.mit.edu	37	chr19	9089904	9089904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccagagtcaaatctgcGgatgtctcagatgatgctgt	13	8	3	3	rs374207045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	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.S637S(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						TCAAATCTGCGGATGTCTCAG	0.582																																						ENST00000397910.4																			2	Substitution - coding silent(2)	p.S637S(2)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1909-1911)tcC>tcT		mucin 16, cell surface associated		G		1,4373		0,1,2186	113	117	115		1911	-3.1	0	19		115	0,8566		0,0,4283	no	coding-synonymous	MUC16	NM_024690.2		0,1,6469	AA,AG,GG		0.0,0.0229,0.0077		637/14508	9089904	1,12939	2187	4283	6470	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089904G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1911C>T	19.37:g.9089904G>A							p.S637S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2114	-			637			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1911C>T	CCDS54212.1																																																																																				0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	519	0	0	0	1	0	18	519					A	9089904	G	A	9089904	2	1	79	1	0	0	0	0	0	0	0	1	10014	1103	39	1		1	MUC16	19	9089904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	381	9089904	50039079	18581	28898											
MUC16	94025	broad.mit.edu	37	chr19	9090171	9090171	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccacactggttgatgctggGggtctctctgttttcatgct	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090171G>T	ENST00000397910.4	-	1	1847	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	548	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						TTGATGCTGGGGGTCTCTCTG	0.527																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1642-1644)ccC>ccA		mucin 16, cell surface associated							73	72	73					19																	9090171		2043	4209	6252	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090171G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1644C>A	19.37:g.9090171G>T							p.P548P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1847	-			548			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1644C>A	CCDS54212.1																																																																																				0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		49	242	1	0	6.08268e-21	1	6.83416e-21	49	242					T	9090171	G	T	9090171	2	4	79	1	0	0	0	0	0	0	0	1	10014	1219	43	3		3	MUC16	19	9090171	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267	9090171	50038812	18582	28899											
MUC16	94025	broad.mit.edu	37	chr19	9090699	9090699	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgctgggtatatccatggtCtcagcgaaggcatggaaggt	15	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090699C>A	ENST00000397910.4	-	1	1319	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	372	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						TATCCATGGTCTCAGCGAAGG	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1114-1116)gaG>gaT		mucin 16, cell surface associated							92	87	89					19																	9090699		2036	4189	6225	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090699C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1116G>T	19.37:g.9090699C>A	ENSP00000381008:p.Glu372Asp						p.E372D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1319	-			372			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1116G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.030	-0.199854	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	1.38	-1.31	0.09230	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.10450	0.005	T	0.46816	-0.9164	8	0.87932	D	0	.	1.9136	0.03292	0.3171:0.4568:0.0:0.2261	.	372	B5ME49	.	D	372	ENSP00000381008:E372D	ENSP00000381008:E372D	E	-	3	2	MUC16	8951699	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-3.040000	0.00633	-0.277000	0.09193	0.313000	0.20887	GAG		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	189	1	0	1.00953e-15	1	1.10482e-15	45	189					A	9090699	C	A	9090699	3	1	79	1	0	0	0	0	1	0	0	0	10014	912	32	3	42743	3	MUC16	19	9090699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	528	9090699	50038284	18583	28900											
OR1M1	125963	broad.mit.edu	37	chr19	9204616	9204616	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggtcccctctgcaggCggcaggaagaaagccttctc	12	12	2	2	rs142350139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9204616C>T	ENST00000429566.3	+	1	762	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGCAGGCGGCAGGAAGA	0.582																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(694-696)ggC>ggT		olfactory receptor, family 1, subfamily M, member 1				1,4405	2.1+/-5.4	0,1,2202	138	123	128		696	-7.6	0	19	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	OR1M1	NM_001004456.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		232/314	9204616	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204616C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"GPCR / Class A : Olfactory receptors"	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.696C>T	19.37:g.9204616C>T							p.G232G	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	762	+			232					B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.696C>T	CCDS32896.1																																																																																				0.582	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			125	573	0	0	0	1	0	125	573					T	9204616	C	T	9204616	2	4	79	1	0	0	0	0	0	0	0	1	11010	755	27	1		1	OR1M1	19	9204616	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113917	9204616	49924367	18584	28901											
OR7G3	390883	broad.mit.edu	37	chr19	9236904	9236904	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaacgattaaatgtgacccGcagatggaaaaagctttata	8	7	0	2	rs143566600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9236904G>A	ENST00000305444.2	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGACCCGCAGATGGAAA	0.443																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(721-723)tgC>tgT		olfactory receptor, family 7, subfamily G, member 3		G		0,4406		0,0,2203	99	101	100		723	-0.7	0.6	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR7G3	NM_001001958.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/313	9236904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9236904G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.723C>T	19.37:g.9236904G>A							p.C241C	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	722	-			241					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.723C>T	CCDS32899.1																																																																																				0.443	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			28	588	0	0	0	1	0	28	588					A	9236904	G	A	9236904	2	1	79	1	0	0	0	0	0	0	0	1	11266	1079	38	1		1	OR7G3	19	9236904	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32288	9236904	49892079	18585	28902											
OR7G3	390883	broad.mit.edu	37	chr19	9237060	9237060	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttattgatgaggacatcagaAcaggcgagcttgagaatatg	12	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9237060A>G	ENST00000305444.2	-	1	566	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	189						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)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACATCAGAACAGGCGAGCT	0.458																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(565-567)tgT>tgC		olfactory receptor, family 7, subfamily G, member 3							73	71	71					19																	9237060		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237060A>G		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.567T>C	19.37:g.9237060A>G							p.C189C	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	566	-			189					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.567T>C	CCDS32899.1																																																																																				0.458	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			70	270	0	0	0	1	0	70	270					G	9237060	A	G	9237060	2	3	79	1	0	0	0	0	0	0	0	1	11266	41	2	4		4	OR7G3	19	9237060	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	9237060	49891923	18586	28903											
ZNF317	57693	broad.mit.edu	37	chr19	9271217	9271217	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaatccacatgcgagTtcacactggcgagaggcctt	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9271217T>C	ENST00000247956.6	+	7	1201	c.896T>C	c.(895-897)gTt>gCt	p.V299A	ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	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)|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						CACATGCGAGTTCACACTGGC	0.567																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(895-897)gTt>gCt		zinc finger protein 317							70	68	69					19																	9271217		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271217T>C	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.896T>C	19.37:g.9271217T>C	ENSP00000247956:p.Val299Ala					ZNF317_ENST00000360385.3_Missense_Mutation_p.V267A	p.V299A	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1201	+			299					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.896T>C	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763244	0.31228	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.09817	2.94;2.94	3.61	1.32	0.21799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417750	0.17679	N	0.165690	T	0.06735	0.0172	N	0.17564	0.495	0.09310	N	1	B;B	0.25772	0.11;0.134	B;B	0.29077	0.059;0.098	T	0.31998	-0.9923	10	0.87932	D	0	-17.6165	6.4498	0.21898	0.0:0.2528:0.0:0.7472	.	267;299	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	A	299;267	ENSP00000247956:V299A;ENSP00000353554:V267A	ENSP00000247956:V299A	V	+	2	0	ZNF317	9132217	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	-0.182000	0.09726	0.218000	0.20820	0.482000	0.46254	GTT		0.567	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		95	307	0	0	0	1	0	95	307					C	9271217	T	C	9271217	3	2	79	1	0	0	0	0	1	0	0	0	17888	1725	60	4	918	4	ZNF317	19	9271217	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	34157	9271217	49857766	18587	28904											
OR7D2	162998	broad.mit.edu	37	chr19	9296785	9296785	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctccatgttttttcctattCtggacacgctactcctgacc	5	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9296785C>A	ENST00000344248.2	+	1	507	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	110					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)	p.L110V(1)		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						TTTTCCTATTCTGGACACGCT	0.517																																						ENST00000344248.2																			1	Substitution - Missense(1)	p.L110V(1)	ovary(1)	breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(328-330)Ctg>Atg		olfactory receptor, family 7, subfamily D, member 2							182	167	172					19																	9296785		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296785C>A	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.328C>A	19.37:g.9296785C>A	ENSP00000345563:p.Leu110Met						p.L110M	NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN			1	507	+			110					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.328C>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.390430	0.01185	.	.	ENSG00000188000	ENST00000344248	T	0.00892	5.57	2.21	-1.95	0.07548	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31268	U	0.007960	T	0.00580	0.0019	N	0.17872	0.535	0.09310	N	1	B	0.23937	0.094	B	0.23852	0.049	T	0.47560	-0.9108	10	0.31617	T	0.26	.	1.8614	0.03189	0.4995:0.2153:0.1648:0.1204	.	110	Q96RA2	OR7D2_HUMAN	M	110	ENSP00000345563:L110M	ENSP00000345563:L110M	L	+	1	2	OR7D2	9157785	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.338000	0.07842	-0.321000	0.08627	0.511000	0.50034	CTG		0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			144	670	1	0	1.18489e-69	1	1.50393e-69	144	670					A	9296785	C	A	9296785	3	1	79	1	0	0	0	0	1	0	0	0	11261	912	32	3	330	3	OR7D2	19	9296785	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25568	9296785	49832198	18588	28905											
OR7D4	125958	broad.mit.edu	37	chr19	9324695	9324695	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcgtacatcactgaggcGgtggagctgctctgggaaga	16	8	2	2	rs141567228	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324695G>A	ENST00000308682.2	-	1	847	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	273						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(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCACTGAGGCGGTGGAGCTGC	0.552													g|||	2	0.000399361	0.0008	0.0	5008	,	,		17318	0.0		0.001	False		,,,				2504	0.0					ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(817-819)acC>acT		olfactory receptor, family 7, subfamily D, member 4		G		2,4404	4.2+/-10.8	0,2,2201	72	64	67		819	-6.7	0	19	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR7D4	NM_001005191.2		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		273/313	9324695	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324695G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.819C>T	19.37:g.9324695G>A							p.T273T	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	847	-			273					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.819C>T	CCDS32901.1																																																																																				0.552	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			12	315	0	0	0	1	0	12	315					A	9324695	G	A	9324695	2	1	79	1	0	0	0	0	0	0	0	1	11262	1103	39	1		1	OR7D4	19	9324695	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27910	9324695	49804288	18589	28906											
OR7D4	125958	broad.mit.edu	37	chr19	9324922	9324922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtggccacatacaagaCaatgttattgaggagggtgt	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324922C>T	ENST00000308682.2	-	1	620	c.592G>A	c.(592-594)Gtc>Atc	p.V198I		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	198						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(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(592-594)Gtc>Atc		olfactory receptor, family 7, subfamily D, member 4							107	100	102					19																	9324922		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324922C>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.592G>A	19.37:g.9324922C>T	ENSP00000310488:p.Val198Ile						p.V198I	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	620	-			198					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.592G>A	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475593	0.26511	.	.	ENSG00000174667	ENST00000308682	T	0.37235	1.21	4.0	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	2.995800	0.00741	N	0.001017	T	0.25382	0.0617	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.12656	-1.0539	10	0.49607	T	0.09	.	3.2699	0.06878	0.216:0.4146:0.0713:0.2981	.	198	Q8NG98	OR7D4_HUMAN	I	198	ENSP00000310488:V198I	ENSP00000310488:V198I	V	-	1	0	OR7D4	9185922	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-5.342000	0.00130	-1.946000	0.01035	-0.436000	0.05848	GTC		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			92	419	0	0	0	1	0	92	419					T	9324922	C	T	9324922	3	4	79	1	0	0	0	0	1	0	0	0	11262	478	17	2	350	2	OR7D4	19	9324922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	9324922	49804061	18590	28907											
OR7D4	125958	broad.mit.edu	37	chr19	9325388	9325388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggccagaatgatgagcagGttccccagcaccgtgaccag	12	13	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325388G>A	ENST00000308682.2	-	1	154	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	42						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(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGATGAGCAGGTTCCCCAGCA	0.527																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(124-126)aaC>aaT		olfactory receptor, family 7, subfamily D, member 4							78	74	75					19																	9325388		2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325388G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.126C>T	19.37:g.9325388G>A							p.N42N	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	154	-			42					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.126C>T	CCDS32901.1																																																																																				0.527	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			105	417	0	0	0	1	0	105	417					A	9325388	G	A	9325388	2	1	79	1	0	0	0	0	0	0	0	1	11262	1252	44	2		2	OR7D4	19	9325388	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	466	9325388	49803595	18591	28908											
OR7D4	125958	broad.mit.edu	37	chr19	9325480	9325480	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagtcccaggaggagaaAttttgataattctgtaaggt	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325480A>C	ENST00000308682.2	-	1	62	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	12						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(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGGAGAAATTTTGATAAT	0.498																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(34-36)Ttt>Gtt		olfactory receptor, family 7, subfamily D, member 4							45	46	46					19																	9325480		2199	4295	6494	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325480A>C		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.34T>G	19.37:g.9325480A>C	ENSP00000310488:p.Phe12Val						p.F12V	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	62	-			12					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.34T>G	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.841269	0.51057	.	.	ENSG00000174667	ENST00000308682	T	0.04551	3.6	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000010	T	0.24470	0.0593	H	0.94847	3.59	0.20703	N	0.999866	D	0.58268	0.982	P	0.58454	0.839	T	0.20940	-1.0260	10	0.87932	D	0	.	11.8803	0.52571	1.0:0.0:0.0:0.0	.	12	Q8NG98	OR7D4_HUMAN	V	12	ENSP00000310488:F12V	ENSP00000310488:F12V	F	-	1	0	OR7D4	9186480	0.974000	0.33945	0.032000	0.17829	0.013000	0.08279	2.328000	0.43867	1.762000	0.52044	0.172000	0.16884	TTT		0.498	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			39	356	0	0	0	1	0	39	356					C	9325480	A	C	9325480	3	2	79	1	0	0	0	0	1	0	0	0	11262	101	4	4	908	4	OR7D4	19	9325480	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	92	9325480	49803503	18592	28909											
OR7E24	26648	broad.mit.edu	37	chr19	9362113	9362113	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcatgtatggatgacatgCtcctgagtgtgatggcctat	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362113C>A	ENST00000456448.1	+	1	508	c.394C>A	c.(394-396)Ctc>Atc	p.L132I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGATGACATGCTCCTGAGTGT	0.478																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(394-396)Ctc>Atc		olfactory receptor, family 7, subfamily E, member 24							123	126	125					19																	9362113		2199	4300	6499	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362113C>A	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.394C>A	19.37:g.9362113C>A	ENSP00000387523:p.Leu132Ile						p.L132I	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	508	+			132					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.394C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	7.659	0.684572	0.14973	.	.	ENSG00000237521	ENST00000456448	T	0.06371	3.31	2.39	-1.88	0.07713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09555	0.0235	L	0.45051	1.395	0.09310	N	1	D	0.62365	0.991	P	0.52672	0.706	T	0.21280	-1.0250	9	0.62326	D	0.03	.	7.3681	0.26785	0.1775:0.4772:0.3453:0.0	.	132	Q6IFN5	O7E24_HUMAN	I	132	ENSP00000387523:L132I	ENSP00000387523:L132I	L	+	1	0	OR7E24	9223113	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.683000	0.01934	-0.433000	0.07286	-0.445000	0.05633	CTC		0.478	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			56	231	1	0	2.84144e-21	1	3.19776e-21	56	231					A	9362113	C	A	9362113	3	1	79	1	0	0	0	0	1	0	0	0	11263	797	28	3	396	3	OR7E24	19	9362113	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36633	9362113	49766870	18593	28910											
OR7E24	26648	broad.mit.edu	37	chr19	9362432	9362432	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatccttttctcttactataAaattgtttcccccattctga	3	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362432A>C	ENST00000456448.1	+	1	827	c.713A>C	c.(712-714)aAa>aCa	p.K238T		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTACTATAAAATTGTTTCC	0.423																																						ENST00000456448.1																			0				endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						c.(712-714)aAa>aCa		olfactory receptor, family 7, subfamily E, member 24							28	29	29					19																	9362432		1915	4146	6061	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362432A>C	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.713A>C	19.37:g.9362432A>C	ENSP00000387523:p.Lys238Thr						p.K238T	NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN			1	827	+			238					B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.713A>C	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	14.88	2.666845	0.47677	.	.	ENSG00000237521	ENST00000456448	T	0.00084	8.75	2.21	-1.3	0.09259	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.73319	2.225	0.09310	N	1	D	0.67145	0.996	D	0.66196	0.942	T	0.45352	-0.9267	9	0.87932	D	0	.	7.2389	0.26086	0.481:0.0:0.519:0.0	.	238	Q6IFN5	O7E24_HUMAN	T	238	ENSP00000387523:K238T	ENSP00000387523:K238T	K	+	2	0	OR7E24	9223432	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-1.031000	0.03578	-0.447000	0.07138	0.358000	0.22013	AAA		0.423	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			21	78	0	0	0	1	0	21	78					C	9362432	A	C	9362432	3	2	79	1	0	0	0	0	1	0	0	0	11263	14	1	4	715	4	OR7E24	19	9362432	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	319	9362432	49766551	18594	28911											
ZNF699	374879	broad.mit.edu	37	chr19	9406257	9406257	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agggtttctctccagtgtggCttctcacatgccttcgaaag	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9406257C>A	ENST00000591998.1	-	6	2051	c.1823G>T	c.(1822-1824)aGc>aTc	p.S608I	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I			Q32M78	ZN699_HUMAN	zinc finger protein 699	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						TCCAGTGTGGCTTCTCACATG	0.443																																						ENST00000591998.1																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1822-1824)aGc>aTc		zinc finger protein 699							89	95	93					19																	9406257		2202	4300	6502	SO:0001583	missense	374879				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9406257C>A	BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1823G>T	19.37:g.9406257C>A	ENSP00000467723:p.Ser608Ile					ZNF699_ENST00000308650.3_Missense_Mutation_p.S608I	p.S608I			Q32M78	ZN699_HUMAN			6	2051	-			608					Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	c.1823G>T	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.458727	0.01062	.	.	ENSG00000196110	ENST00000308650	T	0.17691	2.26	3.59	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000443	T	0.03915	0.0110	N	0.01761	-0.735	0.09310	N	1	B	0.25850	0.136	B	0.26517	0.07	T	0.41875	-0.9484	10	0.02654	T	1	.	7.2873	0.26346	0.3585:0.2286:0.413:0.0	.	608	Q32M78	ZN699_HUMAN	I	608	ENSP00000311596:S608I	ENSP00000311596:S608I	S	-	2	0	ZNF699	9267257	0.000000	0.05858	0.006000	0.13384	0.974000	0.67602	-0.665000	0.05286	-0.241000	0.09681	0.555000	0.69702	AGC		0.443	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1	NM_198535		82	331	1	0	2.13431e-38	1	2.57195e-38	82	331					A	9406257	C	A	9406257	3	1	79	1	0	0	0	0	1	0	0	0	18154	797	28	3	109	3	ZNF699	19	9406257	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43825	9406257	49722726	18595	28912											
ZNF559	84527	broad.mit.edu	37	chr19	9452958	9452958	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataagaaatttggcaaagcCtttgctttttccccagatct	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9452958C>T	ENST00000393883.2	+	6	1479	c.831C>T	c.(829-831)gcC>gcT	p.A277A	ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.A197A|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGGCAAAGCCTTTGCTTTTT	0.348																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(829-831)gcC>gcT		zinc finger protein 559							83	90	88					19																	9452958		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452958C>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.831C>T	19.37:g.9452958C>T						ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000587557.1_Silent_p.A341A|ZNF559_ENST00000603380.1_Silent_p.A277A|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.A197A	p.A277A	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1479	+			277					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.831C>T	CCDS12211.1																																																																																				0.348	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		87	423	0	0	0	1	0	87	423					T	9452958	C	T	9452958	2	4	79	1	0	0	0	0	0	0	0	1	18043	668	24	2		2	ZNF559	19	9452958	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46701	9452958	49676025	18596	28913											
ZNF559	84527	broad.mit.edu	37	chr19	9453386	9453386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtgggaaagccttcattcGatcctcatttcttattcgac	8	10	3	0	rs182459884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9453386G>A	ENST00000393883.2	+	6	1907	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	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)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCTTCATTCGATCCTCATTT	0.418													G|||	3	0.000599042	0.0	0.0043	5008	,	,		23436	0.0		0.0	False		,,,				2504	0.0					ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1258-1260)cGa>cAa		zinc finger protein 559							82	65	71					19																	9453386		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453386G>A	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1259G>A	19.37:g.9453386G>A	ENSP00000377461:p.Arg420Gln					ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.R484Q|ZNF559_ENST00000603380.1_Missense_Mutation_p.R420Q|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.R340Q	p.R420Q	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1907	+			420					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.1259G>A	CCDS12211.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	2.445	-0.327701	0.05314	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.15017	2.46;2.46	2.22	-4.44	0.03557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12263	0.0298	N	0.17278	0.47	0.09310	N	1	P;D;P	0.76494	0.937;0.999;0.544	B;P;B	0.61592	0.162;0.891;0.032	T	0.05750	-1.0866	9	0.02654	T	1	.	3.6878	0.08335	0.2228:0.0:0.325:0.4522	.	420;420;340	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	Q	420;340;420	ENSP00000442832:R340Q;ENSP00000377461:R420Q	ENSP00000325393:R420Q	R	+	2	0	ZNF559	9314386	0.000000	0.05858	0.000000	0.03702	0.305000	0.27757	-2.816000	0.00752	-1.259000	0.02468	0.313000	0.20887	CGA		0.418	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		67	318	0	0	0	1	0	67	318					A	9453386	G	A	9453386	3	1	79	1	0	0	0	0	1	0	0	0	18043	1058	37	1	1273	1	ZNF559	19	9453386	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428	9453386	49675597	18597	28914											
ZNF177	7730	broad.mit.edu	37	chr19	9492029	9492029	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactggagagaaaccctatgActgtaaggaatgtgggaagg	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9492029A>G	ENST00000589262.1	+	6	1088	c.1022A>G	c.(1021-1023)gAc>gGc	p.D341G	ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Missense_Mutation_p.D181G|ZNF177_ENST00000446085.4_3'UTR	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	341					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						AAACCCTATGACTGTAAGGAA	0.458																																						ENST00000541595.2																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(541-543)gAc>gGc		zinc finger protein 177							97	97	97					19																	9492029		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492029A>G	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1022A>G	19.37:g.9492029A>G	ENSP00000468531:p.Asp341Gly					ZNF177_ENST00000434737.2_Missense_Mutation_p.D341G|ZNF177_ENST00000343499.4_Missense_Mutation_p.D181G|ZNF177_ENST00000602738.1_Missense_Mutation_p.D181G|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.D341G	p.D181G	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN			12	1171	+			181					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.542A>G	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.361363	0.41801	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.18174	3.19;3.19;2.23	2.64	1.56	0.23342	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.11023	0.085	0.25653	N	0.986071	B;B	0.32396	0.08;0.369	B;B	0.30251	0.085;0.113	T	0.21965	-1.0230	8	0.87932	D	0	.	3.3069	0.07003	0.5169:0.2449:0.0:0.2382	.	341;181	B4DY57;Q13360	.;ZN177_HUMAN	G	181;181;341	ENSP00000445323:D181G;ENSP00000341497:D181G;ENSP00000415070:D341G	ENSP00000341497:D181G	D	+	2	0	ZNF177	9353029	0.000000	0.05858	0.714000	0.30535	0.991000	0.79684	0.192000	0.17096	0.402000	0.25451	0.460000	0.39030	GAC		0.458	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		67	286	0	0	0	1	0	67	286					G	9492029	A	G	9492029	3	3	79	1	0	0	0	0	1	0	0	0	17799	275	10	4	1040	4	ZNF177	19	9492029	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	38643	9492029	49636954	18598	28915											
ZNF426	79088	broad.mit.edu	37	chr19	9639635	9639635	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattccttacattcatagggCttgtctccactgtgagatcg	8	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9639635C>T	ENST00000535489.1	-	6	1422	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000593003.1_Silent_p.K324K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	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(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(970-972)aaG>aaA		zinc finger protein 426							92	92	92					19																	9639635		2203	4300	6503	SO:0001819	synonymous_variant	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9639635C>T	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.1086G>A	19.37:g.9639635C>T						ZNF426_ENST00000535489.1_Silent_p.K362K|ZNF426_ENST00000253115.2_Silent_p.K362K	p.K324K			Q9BUY5	ZN426_HUMAN			6	1449	-			362					B3KTL2	Silent	SNP	ENST00000535489.1	37	c.972G>A	CCDS12215.1																																																																																				0.443	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		66	254	0	0	0	1	0	66	254					T	9639635	C	T	9639635	2	4	79	1	0	0	0	0	0	0	0	1	17953	796	28	2		2	ZNF426	19	9639635	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147606	9639635	49489348	18599	28916											
ZNF426	79088	broad.mit.edu	37	chr19	9644530	9644530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctactgtggccaggTtcttgtagttctccagcatc	8	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9644530T>C	ENST00000535489.1	-	3	566	c.230A>G	c.(229-231)aAc>aGc	p.N77S	ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S|ZNF426_ENST00000593003.1_Missense_Mutation_p.N39S|ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	77	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(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGCCAGGTTCTTGTAGTT	0.478																																						ENST00000593003.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(115-117)aAc>aGc		zinc finger protein 426							239	179	199					19																	9644530		2203	4300	6503	SO:0001583	missense	79088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9644530T>C	AK095759	CCDS12215.1, CCDS74279.1	19p13.2	2013-01-08				ENSG00000130818		"Zinc fingers, C2H2-type", "-"	20725	protein-coding gene	gene with protein product							Standard	NM_024106		Approved	MGC2663	uc002mlq.3	Q9BUY5		ENST00000535489.1:c.230A>G	19.37:g.9644530T>C	ENSP00000439017:p.Asn77Ser					ZNF426_ENST00000589289.1_Missense_Mutation_p.N77S|ZNF426_ENST00000535489.1_Missense_Mutation_p.N77S|ZNF426_ENST00000253115.2_Missense_Mutation_p.N77S	p.N39S			Q9BUY5	ZN426_HUMAN			3	593	-			77					B3KTL2	Missense_Mutation	SNP	ENST00000535489.1	37	c.116A>G	CCDS12215.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708981	0.48517	.	.	ENSG00000130818	ENST00000545189;ENST00000253115;ENST00000535489	T;T	0.02525	4.26;4.26	1.41	0.358	0.16084	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.81682	2.555	0.09310	N	1	P;P	0.51057	0.941;0.941	P;P	0.60415	0.874;0.874	T	0.21999	-1.0229	9	0.59425	D	0.04	.	1.4957	0.02466	0.3116:0.2127:0.0:0.4757	.	64;77	Q59EH4;Q9BUY5	.;ZN426_HUMAN	S	64;77;77	ENSP00000253115:N77S;ENSP00000439017:N77S	ENSP00000253115:N77S	N	-	2	0	ZNF426	9505530	0.000000	0.05858	0.017000	0.16124	0.816000	0.46133	-0.969000	0.03813	0.046000	0.15833	0.260000	0.18958	AAC		0.478	ZNF426-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449905.1	NM_024106		45	490	0	0	0	1	0	45	490					C	9644530	T	C	9644530	3	2	79	1	0	0	0	0	1	0	0	0	17953	1725	60	4	1450	4	ZNF426	19	9644530	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4895	9644530	49484453	18600	28917											
ZNF561	93134	broad.mit.edu	37	chr19	9721015	9721015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttctctccggtatgagttCgcaggtgaacattaaggcgt	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9721015C>T	ENST00000302851.3	-	6	1685	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTATGAGTTCGCAGGTGAAC	0.418																																						ENST00000302851.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(1321-1323)cGa>cAa		zinc finger protein 561							152	146	148					19																	9721015		2203	4300	6503	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9721015C>T	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.1322G>A	19.37:g.9721015C>T	ENSP00000303915:p.Arg441Gln					ZNF561_ENST00000354661.4_Missense_Mutation_p.R305Q|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.R372Q	p.R441Q	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN			6	1685	-			441					B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.1322G>A	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592903	0.28357	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.02369	4.32;4.32;4.32	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10035	0.0246	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.71656	0.974	T	0.11665	-1.0578	9	0.66056	D	0.02	.	8.1044	0.30877	0.0:1.0:0.0:0.0	.	441	Q8N587	ZN561_HUMAN	Q	372;441;305	ENSP00000393074:R372Q;ENSP00000303915:R441Q;ENSP00000346687:R305Q	ENSP00000303915:R441Q	R	-	2	0	ZNF561	9582015	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.801000	0.04550	0.905000	0.36596	0.298000	0.19748	CGA		0.418	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	NM_152289		143	727	0	0	0	1	0	143	727					T	9721015	C	T	9721015	3	4	79	1	0	0	0	0	1	0	0	0	18045	884	31	1	142	1	ZNF561	19	9721015	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76485	9721015	49407968	18601	28918											
ZNF846	162993	broad.mit.edu	37	chr19	9869139	9869139	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgactgattaagaaaagttCtccaacagtctttgcattca	6	8	3	3	rs544217428		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9869139C>A	ENST00000397902.2	-	6	1027	c.614G>T	c.(613-615)aGa>aTa	p.R205I	ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGAAAAGTTCTCCAACAGTC	0.358																																						ENST00000397902.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(613-615)aGa>aTa		zinc finger protein 846							118	123	122					19																	9869139		1997	4182	6179	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869139C>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.614G>T	19.37:g.9869139C>A	ENSP00000380999:p.Arg205Ile					ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.R76I|ZNF846_ENST00000588267.1_Missense_Mutation_p.R76I	p.R205I	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN			6	1027	-			205					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.614G>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.235018	0.39498	.	.	ENSG00000196605	ENST00000397902	T	0.38887	1.11	1.9	-1.57	0.08506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33411	0.0862	L	0.59436	1.845	0.09310	N	1	D	0.56521	0.976	B	0.41299	0.353	T	0.23868	-1.0176	8	.	.	.	.	6.1997	0.20569	0.0:0.3568:0.0:0.6432	.	205	Q147U1	ZN846_HUMAN	I	205	ENSP00000380999:R205I	.	R	-	2	0	ZNF846	9730139	0.002000	0.14202	0.000000	0.03702	0.144000	0.21451	0.490000	0.22403	-0.348000	0.08286	0.558000	0.71614	AGA		0.358	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1	NM_001077624		49	266	1	0	1.86633e-21	1	2.10207e-21	49	266					A	9869139	C	A	9869139	3	1	79	1	0	0	0	0	1	0	0	0	18245	913	32	3	991	3	ZNF846	19	9869139	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148124	9869139	49259844	18602	28919											
FBXL12	54850	broad.mit.edu	37	chr19	9921948	9921948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcaagcctctgcagatagCtgagctcctgcaggccagca	10	15	2	2	rs142733350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9921948C>A	ENST00000247977.4	-	3	846	c.605G>T	c.(604-606)aGc>aTc	p.S202I	FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I|FBXL12_ENST00000586651.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	202					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						CTGCAGATAGCTGAGCTCCTG	0.667																																						ENST00000247977.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(604-606)aGc>aTc		F-box and leucine-rich repeat protein 12							32	31	32					19																	9921948		2200	4292	6492	SO:0001583	missense	54850						protein binding	g.chr19:9921948C>A	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.605G>T	19.37:g.9921948C>A	ENSP00000247977:p.Ser202Ile					FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.S149I|FBXL12_ENST00000591009.1_Missense_Mutation_p.S149I	p.S202I	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN			3	846	-			202					B3KSJ8|Q9H5K4	Missense_Mutation	SNP	ENST00000247977.4	37	c.605G>T	CCDS12218.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067447	0.36470	.	.	ENSG00000127452	ENST00000247977	T	0.18174	2.23	5.0	1.69	0.24217	.	0.694941	0.14622	N	0.308337	T	0.07234	0.0183	N	0.08118	0	0.32275	N	0.568401	B	0.32693	0.38	B	0.31869	0.137	T	0.34502	-0.9826	9	.	.	.	.	6.1812	0.20472	0.0:0.668:0.0:0.332	.	202	Q9NXK8	FXL12_HUMAN	I	202	ENSP00000247977:S202I	.	S	-	2	0	FBXL12	9782948	0.867000	0.29959	0.915000	0.36163	0.768000	0.43524	0.358000	0.20216	0.259000	0.21709	-0.136000	0.14681	AGC		0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	NM_017703		73	255	1	0	5.44642e-36	1	6.51243e-36	73	255					A	9921948	C	A	9921948	3	1	79	1	0	0	0	0	1	0	0	0	5733	797	28	3	379	3	FBXL12	19	9921948	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52809	9921948	49207035	18603	28920											
PIN1	5300	broad.mit.edu	37	chr19	9949194	9949194	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagtggtggcaaaaaCgggcagggggagcctgccag	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9949194C>T	ENST00000247970.4	+	2	163	c.141C>T	c.(139-141)aaC>aaT	p.N47N	PIN1_ENST00000588695.1_Silent_p.N47N|PIN1_ENST00000587625.1_Silent_p.N47N|PIN1_ENST00000380889.6_3'UTR	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	47					cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)			skin(3)	3						GTGGCAAAAACGGGCAGGGGG	0.667																																						ENST00000247970.4																			0				skin(3)	3						c.(139-141)aaC>aaT		peptidylprolyl cis/trans isomerase, NIMA-interacting 1							18	20	19					19																	9949194		2201	4296	6497	SO:0001819	synonymous_variant	5300				cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding	g.chr19:9949194C>T		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.141C>T	19.37:g.9949194C>T						PIN1_ENST00000588695.1_Silent_p.N47N|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Silent_p.N47N	p.N47N	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN			2	163	+			47					A8K4V9|Q53X75	Silent	SNP	ENST00000247970.4	37	c.141C>T	CCDS12220.1																																																																																				0.667	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1			15	61	0	0	0	1	0	15	61					T	9949194	C	T	9949194	2	4	79	1	0	0	0	0	0	0	0	1	11972	535	19	1		1	PIN1	19	9949194	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27246	9949194	49179789	18604	28921											
OLFM2	93145	broad.mit.edu	37	chr19	9964924	9964924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgtagagcacctggtggcCgttgttccaggtatagaggg	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9964924C>T	ENST00000264833.4	-	6	1488	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	435	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACCTGGTGGCCGTTGTTCCAG	0.602																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1303-1305)Ggc>Agc		olfactomedin 2							93	81	85					19																	9964924		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9964924C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1303G>A	19.37:g.9964924C>T	ENSP00000264833:p.Gly435Ser					OLFM2_ENST00000590841.1_Missense_Mutation_p.G357S	p.G435S	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1488	-			435			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.1303G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172235	0.78452	.	.	ENSG00000105088	ENST00000264833	D	0.91124	-2.79	4.3	4.3	0.51218	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95822	0.8640	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96436	0.9323	9	.	.	.	.	14.3013	0.66355	0.0:1.0:0.0:0.0	.	435	O95897	NOE2_HUMAN	S	435	ENSP00000264833:G435S	.	G	-	1	0	OLFM2	9825924	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.556000	0.82233	2.204000	0.70986	0.561000	0.74099	GGC		0.602	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			77	301	0	0	0	1	0	77	301					T	9964924	C	T	9964924	3	4	79	1	0	0	0	0	1	0	0	0	10895	652	23	1	65	1	OLFM2	19	9964924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15730	9964924	49164059	18605	28922											
OLFM2	93145	broad.mit.edu	37	chr19	9965413	9965413	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggagccgttgtacaccaCgtggcccgtgcccgcccacg	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965413C>T	ENST00000264833.4	-	6	999	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	272	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TTGTACACCACGTGGCCCGTG	0.612																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(814-816)Gtg>Atg		olfactomedin 2							52	51	51					19																	9965413		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9965413C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.814G>A	19.37:g.9965413C>T	ENSP00000264833:p.Val272Met					OLFM2_ENST00000590841.1_Missense_Mutation_p.V194M	p.V272M	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	999	-			272			Olfactomedin-like.		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.814G>A	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566389	0.65651	.	.	ENSG00000105088	ENST00000264833	D	0.91996	-2.95	4.45	4.45	0.53987	Olfactomedin-like (3);	0.000000	0.64402	D	0.000001	D	0.95762	0.8621	M	0.89601	3.045	0.80722	D	1	D	0.60575	0.988	P	0.58130	0.833	D	0.96273	0.9200	9	.	.	.	.	14.6457	0.68759	0.0:1.0:0.0:0.0	.	272	O95897	NOE2_HUMAN	M	272	ENSP00000264833:V272M	.	V	-	1	0	OLFM2	9826413	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.556000	0.82233	2.291000	0.77112	0.561000	0.74099	GTG		0.612	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			33	155	0	0	0	1	0	33	155					T	9965413	C	T	9965413	3	4	79	1	0	0	0	0	1	0	0	0	10895	536	19	1	554	1	OLFM2	19	9965413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	489	9965413	49163570	18606	28923											
OLFM2	93145	broad.mit.edu	37	chr19	9965432	9965432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgtggcccgtgcccgcccaCggctggggcagcaggtgctg	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965432C>T	ENST00000264833.4	-	6	980	c.795G>A	c.(793-795)ccG>ccA	p.P265P	OLFM2_ENST00000590841.1_Silent_p.P187P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	265	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGCCCGCCCACGGCTGGGGCA	0.582																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(793-795)ccG>ccA		olfactomedin 2							42	42	42					19																	9965432		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9965432C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.795G>A	19.37:g.9965432C>T						OLFM2_ENST00000590841.1_Silent_p.P187P	p.P265P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	980	-			265			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.795G>A	CCDS12221.1																																																																																				0.582	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			32	118	0	0	0	1	0	32	118					T	9965432	C	T	9965432	2	4	79	1	0	0	0	0	0	0	0	1	10895	523	19	1		1	OLFM2	19	9965432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19	9965432	49163551	18607	28924											
OLFM2	93145	broad.mit.edu	37	chr19	9968460	9968460	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccaggctccgcatgagggtCtccatgccgcgtacatactg	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9968460C>A	ENST00000264833.4	-	3	476	c.291G>T	c.(289-291)gaG>gaT	p.E97D	OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	97					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCATGAGGGTCTCCATGCCGC	0.617																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(289-291)gaG>gaT		olfactomedin 2							62	58	59					19																	9968460		2203	4300	6503	SO:0001583	missense	93145					extracellular region		g.chr19:9968460C>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.291G>T	19.37:g.9968460C>A	ENSP00000264833:p.Glu97Asp					OLFM2_ENST00000590841.1_Missense_Mutation_p.E19D	p.E97D	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			3	476	-			97					Q6IMJ3|Q96FC2	Missense_Mutation	SNP	ENST00000264833.4	37	c.291G>T	CCDS12221.1	.	.	.	.	.	.	.	.	.	.	c	21.5	4.158524	0.78114	.	.	ENSG00000105088	ENST00000264833	T	0.59224	0.28	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.73217	2.22	0.46149	D	0.998896	D	0.76494	0.999	D	0.77557	0.99	T	0.70193	-0.4939	9	.	.	.	.	7.3153	0.26498	0.0:0.8816:0.0:0.1184	.	97	O95897	NOE2_HUMAN	D	97	ENSP00000264833:E97D	.	E	-	3	2	OLFM2	9829460	0.747000	0.28283	1.000000	0.80357	0.936000	0.57629	1.459000	0.35234	2.021000	0.59480	0.306000	0.20318	GAG		0.617	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			63	273	1	0	3.37043e-27	1	3.8985e-27	63	273					A	9968460	C	A	9968460	3	1	79	1	0	0	0	0	1	0	0	0	10895	912	32	3	1089	3	OLFM2	19	9968460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3028	9968460	49160523	18608	28925											
OLFM2	93145	broad.mit.edu	37	chr19	9971444	9971444	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggtgtacagctgccaGccctcttctgggttctggaa	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9971444G>A	ENST00000264833.4	-	2	275	c.90C>T	c.(88-90)ggC>ggT	p.G30G	OLFM2_ENST00000590841.1_5'Flank	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	30					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACAGCTGCCAGCCCTCTTCTG	0.632																																						ENST00000264833.4																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(88-90)ggC>ggT		olfactomedin 2							26	25	25					19																	9971444		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9971444G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.90C>T	19.37:g.9971444G>A							p.G30G	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			2	275	-			30					Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.90C>T	CCDS12221.1																																																																																				0.632	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			11	49	0	0	0	1	0	11	49					A	9971444	G	A	9971444	2	1	79	1	0	0	0	0	0	0	0	1	10895	958	34	2		2	OLFM2	19	9971444	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2984	9971444	49157539	18609	28926											
COL5A3	50509	broad.mit.edu	37	chr19	10081698	10081698	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttctcccctggggaaccatCtatgccctgcatggggggaa	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10081698C>A	ENST00000264828.3	-	53	3920	c.3835G>T	c.(3835-3837)Gat>Tat	p.D1279Y		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1279	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGAACCATCTATGCCCTGC	0.582																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3835-3837)Gat>Tat		collagen, type V, alpha 3							65	65	65					19																	10081698		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10081698C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3835G>T	19.37:g.10081698C>A	ENSP00000264828:p.Asp1279Tyr						p.D1279Y	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		53	3920	-			1279			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3835G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259475	0.59321	.	.	ENSG00000080573	ENST00000264828	D	0.94330	-3.4	4.46	4.46	0.54185	.	0.144776	0.44688	D	0.000427	D	0.95121	0.8419	M	0.67517	2.055	0.54753	D	0.999988	D	0.71674	0.998	P	0.60789	0.879	D	0.94502	0.7710	10	0.41790	T	0.15	.	14.6536	0.68817	0.0:1.0:0.0:0.0	.	1279	P25940	CO5A3_HUMAN	Y	1279	ENSP00000264828:D1279Y	ENSP00000264828:D1279Y	D	-	1	0	COL5A3	9942698	0.961000	0.32948	0.041000	0.18516	0.349000	0.29174	4.675000	0.61619	2.306000	0.77630	0.455000	0.32223	GAT		0.582	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		67	326	1	0	9.40535e-28	1	1.0908e-27	67	326					A	10081698	C	A	10081698	3	1	79	1	0	0	0	0	1	0	0	0	3707	913	32	3	1462	3	COL5A3	19	10081698	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110254	10081698	49047285	18610	28927											
COL5A3	50509	broad.mit.edu	37	chr19	10091784	10091784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggtggtccccgctctccttCcaggcctggctgccctgtct	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10091784C>T	ENST00000264828.3	-	33	2570	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	829	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGCTCTCCTTCCAGGCCTGGC	0.522																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2485-2487)Gaa>Aaa		collagen, type V, alpha 3							106	91	96					19																	10091784		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10091784C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2485G>A	19.37:g.10091784C>T	ENSP00000264828:p.Glu829Lys						p.E829K	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		33	2570	-			829			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2485G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841790	0.51057	.	.	ENSG00000080573	ENST00000264828	D	0.94376	-3.41	4.81	4.81	0.61882	.	0.234079	0.35262	N	0.003334	T	0.76758	0.4032	N	0.00656	-1.285	0.30216	N	0.797247	B	0.29481	0.245	B	0.31946	0.138	T	0.72184	-0.4367	10	0.06494	T	0.89	.	11.3128	0.49375	0.0:0.8155:0.1845:0.0	.	829	P25940	CO5A3_HUMAN	K	829	ENSP00000264828:E829K	ENSP00000264828:E829K	E	-	1	0	COL5A3	9952784	0.751000	0.28327	0.958000	0.39756	0.716000	0.41182	1.691000	0.37721	2.220000	0.72140	0.313000	0.20887	GAA		0.522	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		80	315	0	0	0	1	0	80	315					T	10091784	C	T	10091784	3	4	79	1	0	0	0	0	1	0	0	0	3707	864	30	2	2892	2	COL5A3	19	10091784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10086	10091784	49037199	18611	28928											
COL5A3	50509	broad.mit.edu	37	chr19	10100162	10100162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagagggccatcggatcCtgggaggcctggaattcctg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10100162C>T	ENST00000264828.3	-	25	2114	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	677	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATCGGATCCTGGGAGGCCT	0.552																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(2029-2031)Gga>Aga		collagen, type V, alpha 3							45	48	47					19																	10100162		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10100162C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2029G>A	19.37:g.10100162C>T	ENSP00000264828:p.Gly677Arg						p.G677R	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		25	2114	-			677			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2029G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179716	0.78564	.	.	ENSG00000080573	ENST00000264828	D	0.98807	-5.15	4.84	4.84	0.62591	.	0.000000	0.64402	U	0.000001	D	0.99429	0.9798	H	0.97440	4.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98300	1.0518	10	0.87932	D	0	.	13.4752	0.61303	0.0:1.0:0.0:0.0	.	677	P25940	CO5A3_HUMAN	R	677	ENSP00000264828:G677R	ENSP00000264828:G677R	G	-	1	0	COL5A3	9961162	1.000000	0.71417	0.985000	0.45067	0.880000	0.50808	6.071000	0.71229	2.250000	0.74265	0.561000	0.74099	GGA		0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		52	197	0	0	0	1	0	52	197					T	10100162	C	T	10100162	3	4	79	1	0	0	0	0	1	0	0	0	3707	690	24	2	3380	2	COL5A3	19	10100162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8378	10100162	49028821	18612	28929											
COL5A3	50509	broad.mit.edu	37	chr19	10114292	10114292	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggtccaaatttccttgttCtttttcctgcccttcccctt	5	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10114292C>A	ENST00000264828.3	-	6	883	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	266	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTTCCTTGTTCTTTTTCCTGC	0.577											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(796-798)aaG>aaT		collagen, type V, alpha 3							265	196	220					19																	10114292		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114292C>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.798G>T	19.37:g.10114292C>A	ENSP00000264828:p.Lys266Asn		OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662		p.K266N	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		6	883	-			266			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.798G>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	7.743	0.701652	0.15172	.	.	ENSG00000080573	ENST00000264828	D	0.90069	-2.61	4.08	-0.41	0.12374	.	1.705140	0.03235	N	0.179441	D	0.90480	0.7018	L	0.52573	1.65	0.26607	N	0.972915	D	0.71674	0.998	D	0.73708	0.981	T	0.77156	-0.2691	10	0.18276	T	0.48	.	3.327	0.07071	0.0:0.4355:0.2062:0.3584	.	266	P25940	CO5A3_HUMAN	N	266	ENSP00000264828:K266N	ENSP00000264828:K266N	K	-	3	2	COL5A3	9975292	0.995000	0.38212	0.995000	0.50966	0.530000	0.34684	-0.000000	0.12993	0.132000	0.18615	-0.382000	0.06688	AAG		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		68	318	1	0	2.69673e-31	1	3.17273e-31	68	318					A	10114292	C	A	10114292	3	1	79	1	0	0	0	0	1	0	0	0	3707	912	32	3	4687	3	COL5A3	19	10114292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14130	10114292	49014691	18613	28930											
RDH8	50700	broad.mit.edu	37	chr19	10129521	10129521	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctcgtcaaagctgtgcTtccaggcatgaagaggaggc	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10129521T>G	ENST00000171214.1	+	3	626	c.377T>G	c.(376-378)cTt>cGt	p.L126R	RDH8_ENST00000591589.1_Missense_Mutation_p.L146R	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	126					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAAGCTGTGCTTCCAGGCATG	0.607																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(436-438)cTt>cGt		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						90	87	88					19																	10129521		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10129521T>G	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.377T>G	19.37:g.10129521T>G	ENSP00000171214:p.Leu126Arg					RDH8_ENST00000171214.1_Missense_Mutation_p.L126R	p.L146R			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		3	626	+			126					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.437T>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.449839	0.84101	.	.	ENSG00000080511	ENST00000171214	D	0.95035	-3.59	5.34	5.34	0.76211	NAD(P)-binding domain (1);	0.054757	0.64402	D	0.000001	D	0.97779	0.9271	M	0.93550	3.43	0.49582	D	0.999808	D	0.71674	0.998	D	0.79108	0.992	D	0.98708	1.0703	10	0.87932	D	0	.	13.2557	0.60076	0.0:0.0:0.0:1.0	.	126	Q9NYR8	RDH8_HUMAN	R	126	ENSP00000171214:L126R	ENSP00000171214:L126R	L	+	2	0	RDH8	9990521	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.657000	0.83745	2.016000	0.59253	0.402000	0.26972	CTT		0.607	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				125	422	0	0	0	1	0	125	422					G	10129521	T	G	10129521	3	3	79	1	0	0	0	0	1	0	0	0	13246	1609	56	4	387	4	RDH8	19	10129521	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15229	10129521	48999462	18614	28931											
RDH8	50700	broad.mit.edu	37	chr19	10132384	10132384	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaaccttggccttcaatgtCtgtcctgcggctgcctccca	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10132384C>T	ENST00000171214.1	+	6	1144	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L	RDH8_ENST00000591589.1_Silent_p.L319L	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	299					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTTCAATGTCTGTCCTGCGG	0.587																																						ENST00000591589.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(955-957)Ctg>Ttg		retinol dehydrogenase 8 (all-trans)	Vitamin A(DB00162)						94	91	92					19																	10132384		2203	4300	6503	SO:0001819	synonymous_variant	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10132384C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	14423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 28C, member 2"	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.895C>T	19.37:g.10132384C>T						RDH8_ENST00000171214.1_Silent_p.L299L	p.L319L			Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		6	1144	+			299					Q9H838	Silent	SNP	ENST00000171214.1	37	c.955C>T																																																																																					0.587	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				67	260	0	0	0	1	0	67	260					T	10132384	C	T	10132384	2	4	79	1	0	0	0	0	0	0	0	1	13246	912	32	2		2	RDH8	19	10132384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2863	10132384	48996599	18615	28932											
C19orf66	55337	broad.mit.edu	37	chr19	10200693	10200693	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctcctcctgcgaccacgtCtggtggcgccgcgtgcccca	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10200693C>A	ENST00000253110.11	+	5	652	c.354C>A	c.(352-354)gtC>gtA	p.V118V	C19orf66_ENST00000397881.3_Silent_p.V67V|C19orf66_ENST00000591813.1_Silent_p.V118V|CTD-2240E14.4_ENST00000589622.1_RNA	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	118										large_intestine(3)|skin(1)	4						GCGACCACGTCTGGTGGCGCC	0.582																																						ENST00000397881.3																			0				large_intestine(3)|skin(1)	4						c.(199-201)gtC>gtA		chromosome 19 open reading frame 66							37	40	39					19																	10200693		2145	4244	6389	SO:0001819	synonymous_variant	55337							g.chr19:10200693C>A		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.354C>A	19.37:g.10200693C>A						CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000253110.11_Silent_p.V118V|C19orf66_ENST00000591813.1_Silent_p.V118V	p.V67V			Q9NUL5	CS066_HUMAN			5	678	+			118					A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Silent	SNP	ENST00000253110.11	37	c.201C>A	CCDS45957.1																																																																																				0.582	C19orf66-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451129.1	NM_018381		8	48	1	0	0.000157383	1	0.000159814	8	48					A	10200693	C	A	10200693	2	1	79	1	0	0	0	0	0	0	0	1	1953	900	32	3		3	C19orf66	19	10200693	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68309	10200693	48928290	18616	28933											
ANGPTL6	83854	broad.mit.edu	37	chr19	10205540	10205540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctctggggctgggtccagCatcctactggtgtcactggt	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10205540C>T	ENST00000253109.4	-	3	895	c.657G>A	c.(655-657)atG>atA	p.M219I	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	219					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CTGGGTCCAGCATCCTACTGG	0.647																																						ENST00000253109.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12						c.(655-657)atG>atA		angiopoietin-like 6							66	58	61					19																	10205540		2203	4300	6503	SO:0001583	missense	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10205540C>T	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"Fibrinogen C domain containing"	23140	protein-coding gene	gene with protein product	"angiopoietin-related protein 5"	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.657G>A	19.37:g.10205540C>T	ENSP00000253109:p.Met219Ile					ANGPTL6_ENST00000592641.1_Missense_Mutation_p.M219I|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.M219I	p.M219I	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		3	895	-			219					A5PKV7|Q9BZZ0	Missense_Mutation	SNP	ENST00000253109.4	37	c.657G>A	CCDS12224.1	.	.	.	.	.	.	.	.	.	.	C	0.417	-0.910153	0.02434	.	.	ENSG00000130812	ENST00000253109	T	0.51071	0.72	4.02	1.81	0.25067	.	4.157180	0.00589	N	0.000341	T	0.27349	0.0671	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20605	-1.0270	10	0.35671	T	0.21	.	2.2278	0.03989	0.204:0.4872:0.1976:0.1112	.	219	Q8NI99	ANGL6_HUMAN	I	219	ENSP00000253109:M219I	ENSP00000253109:M219I	M	-	3	0	ANGPTL6	10066540	0.000000	0.05858	0.253000	0.24343	0.063000	0.16089	0.086000	0.14935	0.988000	0.38734	0.484000	0.47621	ATG		0.647	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		68	269	0	0	0	1	0	68	269					T	10205540	C	T	10205540	3	4	79	1	0	0	0	0	1	0	0	0	618	710	25	2	771	2	ANGPTL6	19	10205540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4847	10205540	48923443	18617	28934											
EIF3G	5032	broad.mit.edu	37	chr19	10226166	10226166	+	IGR	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtcttacttggcccactcGacgttgaggatgaggtggtc	14	9	1	2	rs149739513		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10226166G>A	ENST00000321826.4	+	0	1943				EIF3G_ENST00000253108.4_Silent_p.V312V	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGGCCCACTCGACGTTGAGGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14434	0.0		0.0	False		,,,				2504	0.001					ENST00000253108.4																			0				central_nervous_system(1)|lung(1)	2						c.(934-936)gtC>gtT		eukaryotic translation initiation factor 3, subunit G		G		0,4406		0,0,2203	74	75	74		936	-7.9	0.7	19	dbSNP_134	74	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	EIF3G	NM_003755.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		312/321	10226166	4,13002	2203	4300	6503	SO:0001628	intergenic_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10226166G>A	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166		19.37:g.10226166G>A							p.V312V	NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		10	978	-			312			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.936C>T	CCDS12226.1																																																																																				0.627	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		9	304	0	0	0	1	0	9	304					A	10226166	G	A	10226166	1	1	79	0	1	0	0	0	0	0	0	0	5035	1045	37	1		1	EIF3G	19	10226166	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20626	10226166	48902817	18618	28935											
ICAM1	3383	broad.mit.edu	37	chr19	10385700	10385700	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctaaaaccttcctcaccgtGtactgtgagtaactgagccc	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10385700G>A	ENST00000264832.3	+	2	652	c.327G>A	c.(325-327)gtG>gtA	p.V109V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	109					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)	TCCTCACCGTGTACTGTGAGT	0.552																																						ENST00000264832.3																			0				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						c.(325-327)gtG>gtA		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						87	89	88					19																	10385700		2202	4298	6500	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10385700G>A		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.327G>A	19.37:g.10385700G>A						CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	p.V109V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		2	652	+			109					B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.327G>A	CCDS12231.1																																																																																				0.552	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			21	580	0	0	0	1	0	21	580					A	10385700	G	A	10385700	2	1	79	1	0	0	0	0	0	0	0	1	7509	1364	48	2		2	ICAM1	19	10385700	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159534	10385700	48743283	18619	28936											
ICAM1	3383	broad.mit.edu	37	chr19	10394718	10394718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccctagtcctgccagCgactcccccacaacttgtca	5	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10394718C>T	ENST00000264832.3	+	4	972	c.647C>T	c.(646-648)gCg>gTg	p.A216V	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Intron|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	216					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)	GTCCTGCCAGCGACTCCCCCA	0.627																																						ENST00000264832.3																			0				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						c.(646-648)gCg>gTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)						83	86	85					19																	10394718		2202	4298	6500	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394718C>T		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.647C>T	19.37:g.10394718C>T	ENSP00000264832:p.Ala216Val					CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron	p.A216V	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	972	+			216					B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.647C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	7.370	0.626659	0.14257	.	.	ENSG00000090339	ENST00000264832	T	0.03386	3.95	4.18	-8.36	0.00980	Immunoglobulin-like fold (1);	13.567900	0.00633	N	0.000497	T	0.01421	0.0046	N	0.01705	-0.755	0.09310	N	0.999998	B	0.13594	0.008	B	0.06405	0.002	T	0.43750	-0.9372	10	0.27082	T	0.32	-0.6359	5.1923	0.15216	0.5147:0.1608:0.0:0.3245	.	216	P05362	ICAM1_HUMAN	V	216	ENSP00000264832:A216V	ENSP00000264832:A216V	A	+	2	0	ICAM1	10255718	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.777000	0.00775	-2.479000	0.00524	0.511000	0.50034	GCG		0.627	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			9	576	0	0	0	1	0	9	576					T	10394718	C	T	10394718	3	4	79	1	0	0	0	0	1	0	0	0	7509	768	27	1	661	1	ICAM1	19	10394718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9018	10394718	48734265	18620	28937											
ICAM1	3383	broad.mit.edu	37	chr19	10395085	10395085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcctattccaggctttcCggcgcccaacgtgattctga	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10395085C>T	ENST00000264832.3	+	5	1257	c.932C>T	c.(931-933)cCg>cTg	p.P311L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	311					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)	p.P311L(1)		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)	CCAGGCTTTCCGGCGCCCAAC	0.612																																						ENST00000264832.3																			1	Substitution - Missense(1)	p.P311L(1)	ovary(1)	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						c.(931-933)cCg>cTg		intercellular adhesion molecule 1	Natalizumab(DB00108)|Simvastatin(DB00641)																																			SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395085C>T		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.932C>T	19.37:g.10395085C>T	ENSP00000264832:p.Pro311Leu					CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.P89L	p.P311L	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		5	1257	+			311					B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.932C>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645558	0.29246	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	T;T	0.16743	2.32;2.32	4.1	0.43	0.16515	Immunoglobulin-like fold (1);	0.337248	0.21388	N	0.075359	T	0.27098	0.0664	L	0.58428	1.81	0.09310	N	0.999999	D;P	0.89917	1.0;0.777	D;B	0.77557	0.99;0.141	T	0.13683	-1.0500	10	0.21540	T	0.41	-13.2516	4.4224	0.11486	0.3955:0.4935:0.0:0.111	.	89;311	E7ESS4;P05362	.;ICAM1_HUMAN	L	311;89	ENSP00000264832:P311L;ENSP00000413124:P89L	ENSP00000264832:P311L	P	+	2	0	ICAM1	10256085	0.209000	0.23505	0.025000	0.17156	0.014000	0.08584	0.929000	0.28844	0.079000	0.16929	0.407000	0.27541	CCG		0.612	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			94	392	0	0	0	1	0	94	392					T	10395085	C	T	10395085	3	4	79	1	0	0	0	0	1	0	0	0	7509	652	23	1	950	1	ICAM1	19	10395085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367	10395085	48733898	18621	28938											
ICAM5	7087	broad.mit.edu	37	chr19	10402269	10402269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgggccccgtgcgagcCtcacgctgaccctgctgcgg	15	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10402269C>T	ENST00000221980.4	+	3	520	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	ICAM5_ENST00000586004.1_3'UTR|CTD-2369P2.8_ENST00000589379.1_RNA	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	153	Ig-like C2-type 2.				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)			CCGTGCGAGCCTCACGCTGAC	0.721																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(457-459)Ctc>Ttc		intercellular adhesion molecule 5, telencephalin							25	33	30					19																	10402269		2139	4191	6330	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10402269C>T	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.457C>T	19.37:g.10402269C>T	ENSP00000221980:p.Leu153Phe					ICAM5_ENST00000586004.1_3'UTR	p.L153F	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		3	520	+			153			Ig-like C2-type 2.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.457C>T	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.873232	0.91664	.	.	ENSG00000105376	ENST00000221980	T	0.07327	3.2	5.5	5.5	0.81552	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.30355	0.0762	M	0.78916	2.43	0.36512	D	0.869632	D	0.89917	1.0	D	0.97110	1.0	T	0.18840	-1.0324	10	0.66056	D	0.02	-29.093	14.9435	0.71012	0.0:1.0:0.0:0.0	.	153	Q9UMF0	ICAM5_HUMAN	F	153	ENSP00000221980:L153F	ENSP00000221980:L153F	L	+	1	0	ICAM5	10263269	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.566000	0.45948	2.602000	0.87976	0.466000	0.42574	CTC		0.721	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		31	600	0	0	0	1	0	31	600					T	10402269	C	T	10402269	3	4	79	1	0	0	0	0	1	0	0	0	7513	681	24	2	467	2	ICAM5	19	10402269	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7184	10402269	48726714	18622	28939											
ICAM5	7087	broad.mit.edu	37	chr19	10404950	10404950	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtctgcaacgccaccaAccgccacggctccgtggcca	9	19	1	0	rs367841080		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10404950A>G	ENST00000221980.4	+	8	2009	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	649	Ig-like C2-type 7.				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)			AACGCCACCAACCGCCACGGC	0.682																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1945-1947)aAc>aGc		intercellular adhesion molecule 5, telencephalin							96	112	107					19																	10404950		2202	4300	6502	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404950A>G	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.1946A>G	19.37:g.10404950A>G	ENSP00000221980:p.Asn649Ser						p.N649S	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		8	2009	+			649			Ig-like C2-type 7.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1946A>G	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	5.854	0.341696	0.11069	.	.	ENSG00000105376	ENST00000221980	T	0.60920	0.15	5.21	4.2	0.49525	Immunoglobulin-like fold (1);	0.235251	0.29900	N	0.010901	T	0.41834	0.1176	L	0.38175	1.15	0.31734	N	0.636686	P	0.36027	0.533	B	0.34536	0.185	T	0.49643	-0.8918	10	0.30078	T	0.28	-20.9295	6.936	0.24466	0.8984:0.0:0.1016:0.0	.	649	Q9UMF0	ICAM5_HUMAN	S	649	ENSP00000221980:N649S	ENSP00000221980:N649S	N	+	2	0	ICAM5	10265950	0.988000	0.35896	0.932000	0.37286	0.077000	0.17291	3.046000	0.49846	1.968000	0.57251	0.448000	0.29417	AAC		0.682	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		52	1560	0	0	0	1	0	52	1560					G	10404950	A	G	10404950	3	3	79	1	0	0	0	0	1	0	0	0	7513	43	2	4	1976	4	ICAM5	19	10404950	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2681	10404950	48724033	18623	28940											
ICAM5	7087	broad.mit.edu	37	chr19	10406086	10406086	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgcgcccaggaggaaacttCacgttgacctgccgcgcgga	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10406086C>T	ENST00000221980.4	+	10	2358	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	765	Ig-like C2-type 9.				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)			GAGGAAACTTCACGTTGACCT	0.687																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(2293-2295)ttC>ttT		intercellular adhesion molecule 5, telencephalin							12	15	14					19																	10406086		2152	4271	6423	SO:0001819	synonymous_variant	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10406086C>T	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.2295C>T	19.37:g.10406086C>T							p.F765F	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		10	2358	+			765			Ig-like C2-type 9.		Q9Y6F3	Silent	SNP	ENST00000221980.4	37	c.2295C>T	CCDS12233.1																																																																																				0.687	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		9	126	0	0	0	1	0	9	126					T	10406086	C	T	10406086	2	4	79	1	0	0	0	0	0	0	0	1	7513	825	29	2		2	ICAM5	19	10406086	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1136	10406086	48722897	18624	28941											
FDX1L	112812	broad.mit.edu	37	chr19	10426620	10426620	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaggtgcccctggcaGcctgcagtagaaccctggca	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10426620G>T	ENST00000393708.3	-	1	71	c.53C>A	c.(52-54)gCt>gAt	p.A18D	CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000494368.1_Intron|FDX1L_ENST00000541276.1_Missense_Mutation_p.A21D|FDX1L_ENST00000492239.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A18D	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	18					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)			GCCCCTGGCAGCCTGCAGTAG	0.667																																						ENST00000541276.1																			0				NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(61-63)gCt>gAt		ferredoxin 1-like							20	22	21					19																	10426620		2201	4297	6498	SO:0001583	missense	112812				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	g.chr19:10426620G>T	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.53C>A	19.37:g.10426620G>T	ENSP00000377311:p.Ala18Asp					CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000393708.3_Missense_Mutation_p.A18D|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A18D|FDX1L_ENST00000494368.1_Intron	p.A21D			Q6P4F2	ADXL_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)		1	65	-			18					Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.62C>A	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516593	0.44763	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.96	1.4	0.22301	.	0.586463	0.17006	N	0.190700	T	0.24198	0.0586	L	0.27053	0.805	0.24098	N	0.995884	P	0.38195	0.622	B	0.38803	0.282	T	0.11767	-1.0574	9	0.72032	D	0.01	-12.6227	7.0513	0.25075	0.3305:0.0:0.6695:0.0	.	18	Q6P4F2	ADXL_HUMAN	D	21;18	.	ENSP00000341665:A18D	A	-	2	0	FDX1L	10287620	0.003000	0.15002	0.033000	0.17914	0.004000	0.04260	1.150000	0.31639	0.420000	0.25954	0.462000	0.41574	GCT		0.667	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			33	131	1	0	8.4185e-14	1	9.11178e-14	33	131					T	10426620	G	T	10426620	3	4	79	1	0	0	0	0	1	0	0	0	5830	971	34	3	518	3	FDX1L	19	10426620	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20534	10426620	48702363	18625	28942											
RAVER1	125950	broad.mit.edu	37	chr19	10434065	10434065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccgtggcctgggcagCgatgagagcggccagcatac	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10434065C>T	ENST00000293677.6	-	4	1066	c.985G>A	c.(985-987)Gct>Act	p.A329T	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	312	Interaction with PTBP1. {ECO:0000250}.					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)			GCCTGGGCAGCGATGAGAGCG	0.721																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(985-987)Gct>Act		ribonucleoprotein, PTB-binding 1							10	13	12					19																	10434065		1953	4121	6074	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434065C>T		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.985G>A	19.37:g.10434065C>T	ENSP00000293677:p.Ala329Thr						p.A329T	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	1066	-			312			Interaction with PTBP1 (By similarity).		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.985G>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554745	0.65425	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.13089	2.62	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	T	0.12050	0.0293	L	0.53249	1.67	0.50171	D	0.999859	P	0.37441	0.595	B	0.19148	0.024	T	0.09164	-1.0687	10	0.33141	T	0.24	-8.3268	14.9961	0.71433	0.0:1.0:0.0:0.0	.	329	E9PAU2	.	T	329;312	ENSP00000293677:A329T	ENSP00000293677:A329T	A	-	1	0	RAVER1	10295065	1.000000	0.71417	0.995000	0.50966	0.880000	0.50808	7.279000	0.78599	2.142000	0.66516	0.511000	0.50034	GCT		0.721	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		13	98	0	0	0	1	0	13	98					T	10434065	C	T	10434065	3	4	79	1	0	0	0	0	1	0	0	0	13144	768	27	1	1325	1	RAVER1	19	10434065	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7445	10434065	48694918	18626	28943											
ICAM3	3385	broad.mit.edu	37	chr19	10444592	10444592	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggctgcatagacgtgagggGcagataggtgctctcctccc	14	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444592G>A	ENST00000160262.5	-	7	1793	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.P452S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	529					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)			GACGTGAGGGGCAGATAGGTG	0.587																																						ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1354-1356)Ccc>Tcc		intercellular adhesion molecule 3							192	166	175					19																	10444592		2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10444592G>A		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.1585C>T	19.37:g.10444592G>A	ENSP00000160262:p.Pro529Ser					ICAM3_ENST00000160262.5_Missense_Mutation_p.P529S	p.P452S			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		7	1886	-			529			Ig-like C2-type 5.		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.1354C>T	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822346	0.71028	.	.	ENSG00000076662	ENST00000160262	T	0.02421	4.3	4.48	2.34	0.29019	.	0.722845	0.11948	N	0.513942	T	0.02193	0.0068	L	0.27053	0.805	0.22489	N	0.999056	B	0.33528	0.416	B	0.25884	0.064	T	0.46652	-0.9176	10	0.62326	D	0.03	-9.2889	6.0761	0.19915	0.2378:0.0:0.7622:0.0	.	529	P32942	ICAM3_HUMAN	S	529	ENSP00000160262:P529S	ENSP00000160262:P529S	P	-	1	0	ICAM3	10305592	0.839000	0.29477	0.732000	0.30844	0.568000	0.35870	0.518000	0.22847	0.601000	0.29879	0.561000	0.74099	CCC		0.587	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			62	671	0	0	0	1	0	62	671					A	10444592	G	A	10444592	3	1	79	1	0	0	0	0	1	0	0	0	7511	1203	42	2	62	2	ICAM3	19	10444592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10527	10444592	48684391	18627	28944											
ICAM3	3385	broad.mit.edu	37	chr19	10444960	10444960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggcacctcccggctggaGccttccttcaaacaccgcag	9	18	1	0	rs527877890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444960G>A	ENST00000160262.5	-	6	1525	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Silent_p.G362G	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	439	Ig-like C2-type 5.				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)			CCCGGCTGGAGCCTTCCTTCA	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18017	0.0		0.001	False		,,,				2504	0.0					ENST00000589261.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(1084-1086)ggC>ggT		intercellular adhesion molecule 3							84	85	85					19																	10444960		2203	4300	6503	SO:0001819	synonymous_variant	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10444960G>A		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.1317C>T	19.37:g.10444960G>A						ICAM3_ENST00000160262.5_Silent_p.G439G	p.G362G			P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		6	1618	-			439			Ig-like C2-type 4.		Q6PD68	Silent	SNP	ENST00000160262.5	37	c.1086C>T	CCDS12235.1																																																																																				0.567	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			9	407	0	0	0	1	0	9	407					A	10444960	G	A	10444960	2	1	79	1	0	0	0	0	0	0	0	1	7511	958	34	2		2	ICAM3	19	10444960	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	368	10444960	48684023	18628	28945											
TYK2	7297	broad.mit.edu	37	chr19	10472585	10472585	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccctccactcgcaggCggccctcatacacgttggtc	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10472585C>T	ENST00000525621.1	-	13	2301	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	TYK2_ENST00000524462.1_Missense_Mutation_p.R422H|TYK2_ENST00000529370.1_Missense_Mutation_p.R607H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	607	Protein kinase 1. {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)			CACTCGCAGGCGGCCCTCATA	0.632																																						ENST00000525621.1																			0				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						c.(1819-1821)cGc>cAc		tyrosine kinase 2							76	67	70					19																	10472585		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10472585C>T		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.1820G>A	19.37:g.10472585C>T	ENSP00000431885:p.Arg607His					TYK2_ENST00000524462.1_Missense_Mutation_p.R422H|TYK2_ENST00000264818.6_Missense_Mutation_p.R607H|TYK2_ENST00000529370.1_Missense_Mutation_p.R607H	p.R607H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		13	2301	-			607			Protein kinase 1.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.1820G>A	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	7.847	0.723072	0.15439	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.93	1.56	0.23342	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.821987	0.10076	N	0.719098	T	0.17023	0.0409	L	0.43701	1.375	0.09310	N	1	B;B	0.27498	0.18;0.018	B;B	0.20767	0.031;0.015	T	0.32455	-0.9906	10	0.16896	T	0.51	-11.9141	4.2795	0.10825	0.4233:0.397:0.1797:0.0	.	607;607	E9PPF2;P29597	.;TYK2_HUMAN	H	422;607;607;354;607	ENSP00000433203:R422H;ENSP00000431885:R607H;ENSP00000264818:R607H;ENSP00000432728:R607H	ENSP00000264818:R607H	R	-	2	0	TYK2	10333585	0.000000	0.05858	0.010000	0.14722	0.044000	0.14063	0.676000	0.25247	0.218000	0.20820	-0.397000	0.06425	CGC		0.632	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			111	477	0	0	0	1	0	111	477					T	10472585	C	T	10472585	3	4	79	1	0	0	0	0	1	0	0	0	16864	768	27	1	1795	1	TYK2	19	10472585	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27625	10472585	48656398	18629	28946											
CDC37	11140	broad.mit.edu	37	chr19	10505909	10505909	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gaaagctccactcacctcctCcacctctaggtcaatgcacc	5	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10505909C>A	ENST00000222005.2	-	4	651	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	200					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCACCTCCTCCACCTCTAGG	0.567																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(598-600)Gag>Tag		cell division cycle 37							208	180	189					19																	10505909		2203	4300	6503	SO:0001587	stop_gained	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505909C>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.598G>T	19.37:g.10505909C>A	ENSP00000222005:p.Glu200*						p.E200*	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	4	651	-			200					Q53YA2	Nonsense_Mutation	SNP	ENST00000222005.2	37	c.598G>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	37	6.103354	0.97286	.	.	ENSG00000105401	ENST00000222005	.	.	.	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.992	0.64372	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000222005:E200X	E	-	1	0	CDC37	10366909	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.011000	0.76359	1.948000	0.56530	0.462000	0.41574	GAG		0.567	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		90	975	1	0	2.96794e-49	1	3.6705e-49	90	975					A	10505909	C	A	10505909	4	1	79	1	0	0	0	0	0	1	0	0	3077	864	30	3	558	3	CDC37	19	10505909	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33324	10505909	48623074	18630	28947											
CDC37	11140	broad.mit.edu	37	chr19	10506754	10506754	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccagctctgccttgccGccctcggccacctccagctc	8	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10506754G>A	ENST00000222005.2	-	2	281	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	76					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCCTTGCCGCCCTCGGCCA	0.652																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(226-228)ggC>ggT		cell division cycle 37							94	92	92					19																	10506754		2203	4300	6503	SO:0001819	synonymous_variant	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506754G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"CDC37 cell division cycle 37 homolog", "Hsp90 co-chaperone Cdc37", "CDC37 (cell division cycle 37, S. cerevisiae, homolog)"	605065	"CDC37 (cell division cycle 37, S. cerevisiae, homolog)", "CDC37 cell division cycle 37 homolog (S. cerevisiae)", "cell division cycle 37 homolog (S. cerevisiae)"			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.228C>T	19.37:g.10506754G>A							p.G76G	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	281	-			76					Q53YA2	Silent	SNP	ENST00000222005.2	37	c.228C>T	CCDS12237.1																																																																																				0.652	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		198	802	0	0	0	1	0	198	802					A	10506754	G	A	10506754	2	1	79	1	0	0	0	0	0	0	0	1	3077	1074	38	1		1	CDC37	19	10506754	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	845	10506754	48622229	18631	28948											
PDE4A	5141	broad.mit.edu	37	chr19	10572664	10572664	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgctagataactactccGaccgcatccaggtgccccca	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10572664G>A	ENST00000352831.6	+	13	1842	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000380702.2_Missense_Mutation_p.D556N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	578	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TAACTACTCCGACCGCATCCA	0.587																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1666-1668)Gac>Aac		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						128	103	112					19																	10572664		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10572664G>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1732G>A	19.37:g.10572664G>A	ENSP00000270474:p.Asp578Asn					PDE4A_ENST00000440014.2_Missense_Mutation_p.D517N|PDE4A_ENST00000592685.1_Missense_Mutation_p.D556N|PDE4A_ENST00000344979.3_Missense_Mutation_p.D339N|PDE4A_ENST00000293683.5_Missense_Mutation_p.D552N|PDE4A_ENST00000352831.6_Missense_Mutation_p.D578N	p.D556N			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		14	1666	+			578			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1666G>A	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271568	0.95429	.	.	ENSG00000065989	ENST00000419866;ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.49	4.49	0.54785	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	T	0.81113	0.4755	M	0.62016	1.91	0.80722	D	1	P;D;D;D;D	0.89917	0.865;1.0;1.0;1.0;1.0	B;D;D;D;D	0.80764	0.268;0.979;0.994;0.986;0.992	T	0.81560	-0.0877	10	0.45353	T	0.12	.	14.6592	0.68858	0.0:0.0:1.0:0.0	.	244;339;517;552;578	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	N	20;556;578;552;517;339;244	ENSP00000370078:D556N;ENSP00000270474:D578N;ENSP00000293683:D552N;ENSP00000394754:D517N;ENSP00000341007:D339N	ENSP00000293683:D552N	D	+	1	0	PDE4A	10433664	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.697000	0.98697	2.062000	0.61559	0.484000	0.47621	GAC		0.587	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			72	475	0	0	0	1	0	72	475					A	10572664	G	A	10572664	3	1	79	1	0	0	0	0	1	0	0	0	11681	1058	37	1	2239	1	PDE4A	19	10572664	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65910	10572664	48556319	18632	28949											
PDE4A	5141	broad.mit.edu	37	chr19	10578270	10578270	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcactcccagctcctggtggCggggggtcaggtggagaccc	17	13	1	1	rs373634594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10578270C>T	ENST00000352831.6	+	15	2744	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000380702.2_Silent_p.G856G|PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000344979.3_Silent_p.G639G	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	878					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTCCTGGTGGCGGGGGGTCAG	0.662																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2566-2568)ggC>ggT		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)		,,,	0,4188		0,0,2094	37	39	39		2634,2556,2451,1917	-1.6	0	19		39	1,8261		0,1,4130	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PDE4A	NM_001111307.1,NM_001111308.1,NM_001111309.1,NM_006202.2	,,,	0,1,6224	TT,TC,CC		0.0121,0.0,0.0080	,,,	878/887,852/861,817/826,639/648	10578270	1,12449	2094	4131	6225	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10578270C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2634C>T	19.37:g.10578270C>T						PDE4A_ENST00000440014.2_Silent_p.G817G|PDE4A_ENST00000592685.1_Silent_p.G856G|PDE4A_ENST00000344979.3_Silent_p.G639G|PDE4A_ENST00000293683.5_Silent_p.G852G|PDE4A_ENST00000352831.6_Silent_p.G878G	p.G856G			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		16	2568	+			878					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.2568C>T	CCDS45961.1																																																																																				0.662	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			73	391	0	0	0	1	0	73	391					T	10578270	C	T	10578270	2	4	79	1	0	0	0	0	0	0	0	1	11681	755	27	1		1	PDE4A	19	10578270	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5606	10578270	48550713	18633	28950											
KEAP1	9817	broad.mit.edu	37	chr19	10599948	10599948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctacgaaagtccacGtctctgtttccacatcgtag	11	11	1	0	rs111830952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10599948G>A	ENST00000171111.5	-	5	2175	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	543					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)	GAAAGTCCACGTCTCTGTTTC	0.602																																						ENST00000171111.5																			0				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						c.(1627-1629)aCg>aTg		kelch-like ECH-associated protein 1							82	62	69					19																	10599948		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10599948G>A	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.1628C>T	19.37:g.10599948G>A	ENSP00000171111:p.Thr543Met					KEAP1_ENST00000393623.2_Missense_Mutation_p.T543M	p.T543M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	2175	-			543					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1628C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858697	0.17178	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.80393	-1.37;-1.37	5.73	2.31	0.28768	Kelch-type beta propeller (1);	0.704760	0.14924	N	0.290506	T	0.76198	0.3954	M	0.80746	2.51	0.09310	N	1	P	0.47034	0.889	B	0.40825	0.341	T	0.69316	-0.5177	10	0.48119	T	0.1	.	2.3283	0.04228	0.1659:0.1499:0.5294:0.1548	.	543	Q14145	KEAP1_HUMAN	M	543	ENSP00000171111:T543M;ENSP00000377245:T543M	ENSP00000171111:T543M	T	-	2	0	KEAP1	10460948	0.001000	0.12720	0.004000	0.12327	0.055000	0.15305	0.984000	0.29565	0.805000	0.34159	-0.225000	0.12378	ACG		0.602	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		28	164	0	0	0	1	0	28	164					A	10599948	G	A	10599948	3	1	79	1	0	0	0	0	1	0	0	0	8171	1145	40	1	254	1	KEAP1	19	10599948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21678	10599948	48529035	18634	28951											
S1PR5	53637	broad.mit.edu	37	chr19	10625429	10625429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgttggcggcgtaggcggCgcctgccagcagatccgaca	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10625429C>T	ENST00000439028.3	-	2	384	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	87					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GCGTAGGCGGCGCCTGCCAGC	0.662																																						ENST00000439028.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						c.(259-261)Gcc>Acc		sphingosine-1-phosphate receptor 5							25	23	24					19																	10625429		2194	4297	6491	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625429C>T	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.259G>A	19.37:g.10625429C>T	ENSP00000416915:p.Ala87Thr					S1PR5_ENST00000333430.4_Missense_Mutation_p.A87T	p.A87T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN			2	384	-			87					Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.259G>A	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	c	18.29	3.591210	0.66219	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.35973	1.28;1.28	4.14	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.527108	0.17544	N	0.170432	T	0.25344	0.0616	N	0.20986	0.625	0.28383	N	0.919465	P	0.48407	0.91	B	0.42798	0.398	T	0.05099	-1.0906	10	0.33141	T	0.24	.	10.8097	0.46540	0.0:0.9041:0.0:0.0959	.	87	Q9H228	S1PR5_HUMAN	T	87	ENSP00000416915:A87T;ENSP00000328472:A87T	ENSP00000328472:A87T	A	-	1	0	S1PR5	10486429	0.010000	0.17322	0.974000	0.42286	0.462000	0.32619	0.594000	0.24014	0.947000	0.37659	0.306000	0.20318	GCC		0.662	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		17	112	0	0	0	1	0	17	112					T	10625429	C	T	10625429	3	4	79	1	0	0	0	0	1	0	0	0	13847	768	27	1	941	1	S1PR5	19	10625429	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25481	10625429	48503554	18635	28952											
ATG4D	84971	broad.mit.edu	37	chr19	10657740	10657740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttgggcagagctcagGcaagaaggcaggtgactggt	18	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10657740G>A	ENST00000309469.4	+	4	892	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	240					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)			CAGAGCTCAGGCAAGAAGGCA	0.657																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(718-720)gGc>gAc		autophagy related 4D, cysteine peptidase							23	22	22					19																	10657740		2199	4296	6495	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10657740G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.719G>A	19.37:g.10657740G>A	ENSP00000311318:p.Gly240Asp					ATG4D_ENST00000540862.1_Intron	p.G240D	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	892	+			240					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.719G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156656	0.94686	.	.	ENSG00000130734	ENST00000309469	T	0.51325	0.71	5.35	5.35	0.76521	.	0.105878	0.64402	D	0.000005	T	0.68696	0.3029	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.994	D;D;D	0.97110	0.951;1.0;0.968	T	0.69131	-0.5226	10	0.48119	T	0.1	-33.1185	17.8112	0.88616	0.0:0.0:1.0:0.0	.	177;263;240	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	D	240	ENSP00000311318:G240D	ENSP00000311318:G240D	G	+	2	0	ATG4D	10518740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.366000	0.73095	2.498000	0.84270	0.561000	0.74099	GGC		0.657	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		10	45	0	0	0	1	0	10	45					A	10657740	G	A	10657740	3	1	79	1	0	0	0	0	1	0	0	0	1100	1203	42	2	733	2	ATG4D	19	10657740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32311	10657740	48471243	18636	28953											
KRI1	65095	broad.mit.edu	37	chr19	10672384	10672384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccacataactttgcgaCgatgtctcctgcagagaggg	10	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10672384C>T	ENST00000312962.6	-	6	484	c.465G>A	c.(463-465)tcG>tcA	p.S155S	KRI1_ENST00000361821.5_Silent_p.S151S|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	149	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AACTTTGCGACGATGTCTCCT	0.607																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(463-465)tcG>tcA		KRI1 homolog (S. cerevisiae)							146	142	143					19																	10672384		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10672384C>T		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.465G>A	19.37:g.10672384C>T						KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.S151S	p.S155S	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		6	484	-			155			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.465G>A	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.379965	0.05000	.	.	ENSG00000129347	ENST00000543682	.	.	.	3.7	-2.84	0.05751	.	.	.	.	.	T	0.27663	0.0680	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.31052	-0.9957	4	.	.	.	-2.2623	5.8817	0.18858	0.0:0.4384:0.2387:0.3229	.	.	.	.	H	93	.	.	R	-	2	0	KRI1	10533384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.565000	0.00918	-0.676000	0.05238	-2.893000	0.00094	CGT		0.607	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		180	728	0	0	0	1	0	180	728					T	10672384	C	T	10672384	2	4	79	1	0	0	0	0	0	0	0	1	8474	523	19	1		1	KRI1	19	10672384	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14644	10672384	48456599	18637	28954											
SLC44A2	57153	broad.mit.edu	37	chr19	10746125	10746125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcttcctgtccacttccaaCgaagcggtctataagatctt	7	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10746125C>T	ENST00000335757.5	+	14	1543	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	SLC44A2_ENST00000586078.1_Silent_p.N389N|SLC44A2_ENST00000407327.4_Silent_p.N387N			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	389					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCACTTCCAACGAAGCGGTCT	0.552																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1165-1167)aaC>aaT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						140	144	142					19																	10746125		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10746125C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1167C>T	19.37:g.10746125C>T						SLC44A2_ENST00000407327.4_Silent_p.N387N|SLC44A2_ENST00000335757.5_Silent_p.N389N	p.N389N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		14	1276	+			389					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.1167C>T	CCDS12245.1																																																																																				0.552	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			127	609	0	0	0	1	0	127	609					T	10746125	C	T	10746125	2	4	79	1	0	0	0	0	0	0	0	1	14686	535	19	1		1	SLC44A2	19	10746125	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73741	10746125	48382858	18638	28955											
SLC44A2	57153	broad.mit.edu	37	chr19	10748582	10748582	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggccaggaatgccttcttCctgctcatgagaaacatcat	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10748582C>T	ENST00000335757.5	+	18	2122	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	SLC44A2_ENST00000586078.1_Silent_p.F582F|SLC44A2_ENST00000407327.4_Silent_p.F580F|SLC44A2_ENST00000588214.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	582					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCCTTCTTCCTGCTCATGA	0.572																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1744-1746)ttC>ttT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						146	131	136					19																	10748582		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10748582C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1746C>T	19.37:g.10748582C>T						SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Silent_p.F580F|SLC44A2_ENST00000335757.5_Silent_p.F582F	p.F582F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		18	1855	+			582					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.1746C>T	CCDS12245.1																																																																																				0.572	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			74	734	0	0	0	1	0	74	734					T	10748582	C	T	10748582	2	4	79	1	0	0	0	0	0	0	0	1	14686	854	30	2		2	SLC44A2	19	10748582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2457	10748582	48380401	18639	28956											
ILF3	3609	broad.mit.edu	37	chr19	10781680	10781680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatttttgtgaatgatgacCgccatgtgatggcaaagcat	11	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10781680C>T	ENST00000590261.1	+	2	34	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000449870.1_Missense_Mutation_p.R12C|ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	12	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAATGATGACCGCCATGTGAT	0.468																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(34-36)Cgc>Tgc		interleukin enhancer binding factor 3, 90kDa							64	57	59					19																	10781680		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10781680C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.34C>T	19.37:g.10781680C>T	ENSP00000468156:p.Arg12Cys					ILF3_ENST00000589998.1_Missense_Mutation_p.R12C|ILF3_ENST00000407004.3_Missense_Mutation_p.R12C|ILF3_ENST00000318511.3_Missense_Mutation_p.R12C|ILF3_ENST00000590261.1_Missense_Mutation_p.R12C|ILF3_ENST00000592763.1_Missense_Mutation_p.R12C|ILF3_ENST00000250241.8_Missense_Mutation_p.R12C|ILF3_ENST00000420083.1_Missense_Mutation_p.R12C|ILF3_ENST00000588657.1_Missense_Mutation_p.R12C	p.R12C	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		3	351	+			12					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.34C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978781	0.92982	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.33	5.33	0.75918	.	0.055575	0.64402	D	0.000001	T	0.64800	0.2631	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.989;0.976;0.998;0.994;0.989	T	0.71133	-0.4681	10	0.87932	D	0	.	18.3088	0.90192	0.0:1.0:0.0:0.0	.	12;12;12;12;12	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	C	12	ENSP00000404121:R12C;ENSP00000315205:R12C;ENSP00000405436:R12C;ENSP00000384660:R12C;ENSP00000250241:R12C	ENSP00000250241:R12C	R	+	1	0	ILF3	10642680	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.459000	0.80802	2.932000	0.99384	0.643000	0.83706	CGC		0.468	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			23	102	0	0	0	1	0	23	102					T	10781680	C	T	10781680	3	4	79	1	0	0	0	0	1	0	0	0	7742	652	23	1	40	1	ILF3	19	10781680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33098	10781680	48347303	18640	28957											
ILF3	3609	broad.mit.edu	37	chr19	10787961	10787961	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcccctgttgtcagagaAgaaatggagaaagtattagc	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10787961A>C	ENST00000590261.1	+	4	534	c.534A>C	c.(532-534)gaA>gaC	p.E178D	ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000449870.1_Missense_Mutation_p.E178D|ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	178	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTGTCAGAGAAGAAATGGAGA	0.463																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(532-534)gaA>gaC		interleukin enhancer binding factor 3, 90kDa							90	82	85					19																	10787961		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10787961A>C	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.534A>C	19.37:g.10787961A>C	ENSP00000468156:p.Glu178Asp					ILF3_ENST00000589998.1_Missense_Mutation_p.E178D|ILF3_ENST00000407004.3_Missense_Mutation_p.E178D|ILF3_ENST00000318511.3_Missense_Mutation_p.E178D|ILF3_ENST00000590261.1_Missense_Mutation_p.E178D|ILF3_ENST00000592763.1_Missense_Mutation_p.E178D|ILF3_ENST00000250241.8_Missense_Mutation_p.E178D|ILF3_ENST00000420083.1_Missense_Mutation_p.E178D|ILF3_ENST00000588657.1_Missense_Mutation_p.E178D	p.E178D	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		5	851	+			178			DZF.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.534A>C	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.801770	0.70682	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.7	3.62	0.41486	DZF (2);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.59436	1.845	0.53005	D	0.999969	D;D;P;D;D	0.71674	0.996;0.997;0.924;0.998;0.996	D;D;B;D;D	0.79108	0.987;0.992;0.421;0.99;0.987	T	0.54892	-0.8225	10	0.30078	T	0.28	.	9.0255	0.36227	0.847:0.0:0.153:0.0	.	178;178;178;178;178	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	D	178	ENSP00000404121:E178D;ENSP00000315205:E178D;ENSP00000405436:E178D;ENSP00000384660:E178D;ENSP00000250241:E178D	ENSP00000250241:E178D	E	+	3	2	ILF3	10648961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.429000	0.34903	0.971000	0.38288	0.528000	0.53228	GAA		0.463	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			61	281	0	0	0	1	0	61	281					C	10787961	A	C	10787961	3	2	79	1	0	0	0	0	1	0	0	0	7742	69	3	4	548	4	ILF3	19	10787961	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6281	10787961	48341022	18641	28958											
ILF3	3609	broad.mit.edu	37	chr19	10794144	10794144	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagcttttccctgacaccCctctcgcccttgatgccaac	5	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10794144C>T	ENST00000590261.1	+	14	1777	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000449870.1_Missense_Mutation_p.P597S|ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	593					defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCCTGACACCCCTCTCGCCCT	0.542																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1789-1791)Cct>Tct		interleukin enhancer binding factor 3, 90kDa							76	78	77					19																	10794144		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10794144C>T	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1777C>T	19.37:g.10794144C>T	ENSP00000468156:p.Pro593Ser					ILF3_ENST00000589998.1_Missense_Mutation_p.P593S|ILF3_ENST00000407004.3_Missense_Mutation_p.P597S|ILF3_ENST00000318511.3_Missense_Mutation_p.P593S|ILF3_ENST00000590261.1_Missense_Mutation_p.P593S|ILF3_ENST00000592763.1_Missense_Mutation_p.P597S|ILF3_ENST00000250241.8_Missense_Mutation_p.P593S|ILF3_ENST00000420083.1_Missense_Mutation_p.P593S|ILF3_ENST00000588657.1_Missense_Mutation_p.P597S	p.P597S	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		15	2106	+			593					A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.1789C>T	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734553	0.30774	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.15952	2.44;2.44;2.38;2.38;2.38	5.75	4.7	0.59300	.	0.255835	0.39909	N	0.001228	T	0.09113	0.0225	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B	0.29136	0.041;0.234;0.15;0.008;0.012;0.001	B;B;B;B;B;B	0.20184	0.008;0.028;0.012;0.006;0.019;0.004	T	0.21211	-1.0252	10	0.46703	T	0.11	.	12.7548	0.57328	0.2987:0.7013:0.0:0.0	.	597;597;593;597;593;593	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	S	593;597;593;593;597;593	ENSP00000404121:P597S;ENSP00000315205:P593S;ENSP00000405436:P593S;ENSP00000384660:P597S;ENSP00000250241:P593S	ENSP00000250241:P593S	P	+	1	0	ILF3	10655144	0.514000	0.26202	0.159000	0.22649	0.987000	0.75469	2.167000	0.42415	1.398000	0.46701	0.591000	0.81541	CCT		0.542	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			32	358	0	0	0	1	0	32	358					T	10794144	C	T	10794144	3	4	79	1	0	0	0	0	1	0	0	0	7742	623	22	2	1843	2	ILF3	19	10794144	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6183	10794144	48334839	18642	28959											
DNM2	1785	broad.mit.edu	37	chr19	10893745	10893745	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcccacccggcctaccgGcacatggccgaccgcatggg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10893745G>A	ENST00000355667.6	+	6	878	c.798G>A	c.(796-798)cgG>cgA	p.R266R	DNM2_ENST00000585892.1_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R|MIR4748_ENST00000578076.1_RNA|DNM2_ENST00000314646.5_Silent_p.R266R|DNM2_ENST00000359692.6_Silent_p.R266R	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	266	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGGCCTACCGGCACATGGCCG	0.592			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(796-798)cgG>cgA		dynamin 2							76	56	63					19																	10893745		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10893745G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.798G>A	19.37:g.10893745G>A						DNM2_ENST00000585892.1_Silent_p.R266R|DNM2_ENST00000408974.4_Silent_p.R266R|DNM2_ENST00000355667.6_Silent_p.R266R|DNM2_ENST00000359692.6_Silent_p.R266R|DNM2_ENST00000389253.4_Silent_p.R266R	p.R266R			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		6	962	+			266					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.798G>A	CCDS45968.1																																																																																				0.592	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		61	296	0	0	0	1	0	61	296					A	10893745	G	A	10893745	2	1	79	1	0	0	0	0	0	0	0	1	4688	1190	42	2		2	DNM2	19	10893745	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99601	10893745	48235238	18643	28960											
DNM2	1785	broad.mit.edu	37	chr19	10934554	10934554	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgttcctccgagctggCgtctaccccgagaaggacca	11	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10934554C>T	ENST00000355667.6	+	17	1952	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	DNM2_ENST00000585892.1_Silent_p.G624G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000389253.4_Silent_p.G624G|DNM2_ENST00000314646.5_Silent_p.G624G|DNM2_ENST00000359692.6_Silent_p.G620G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	624	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCGAGCTGGCGTCTACCCCG	0.662			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1870-1872)ggC>ggT		dynamin 2							53	45	48					19																	10934554		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10934554C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1872C>T	19.37:g.10934554C>T						DNM2_ENST00000585892.1_Silent_p.G624G|DNM2_ENST00000408974.4_Silent_p.G620G|DNM2_ENST00000355667.6_Silent_p.G624G|DNM2_ENST00000359692.6_Silent_p.G620G|DNM2_ENST00000389253.4_Silent_p.G624G	p.G624G			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		17	2036	+			624			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1872C>T	CCDS45968.1																																																																																				0.662	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		57	221	0	0	0	1	0	57	221					T	10934554	C	T	10934554	2	4	79	1	0	0	0	0	0	0	0	1	4688	755	27	1		1	DNM2	19	10934554	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40809	10934554	48194429	18644	28961											
DNM2	1785	broad.mit.edu	37	chr19	10940946	10940946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcccccaatcccatcccGgcctggaccccagagcgtgt	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10940946G>A	ENST00000355667.6	+	20	2515	c.2435G>A	c.(2434-2436)cGg>cAg	p.R812Q	DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q|DNM2_ENST00000314646.5_Missense_Mutation_p.R812Q|DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	812	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATCCCATCCCGGCCTGGACCC	0.697			"F, N, Splice, Mis, O"		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"F, N, Splice, Mis, O"	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(2434-2436)cGg>cAg		dynamin 2							69	72	71					19																	10940946		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10940946G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.2435G>A	19.37:g.10940946G>A	ENSP00000347890:p.Arg812Gln					DNM2_ENST00000585892.1_Missense_Mutation_p.R812Q|DNM2_ENST00000408974.4_Missense_Mutation_p.R808Q|DNM2_ENST00000355667.6_Missense_Mutation_p.R812Q|DNM2_ENST00000359692.6_Missense_Mutation_p.R808Q|DNM2_ENST00000389253.4_Missense_Mutation_p.R812Q	p.R812Q			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		20	2599	+			812			Pro-rich.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.2435G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.008865	0.75046	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	T;T;T	0.61040	0.14;0.14;0.14	5.12	5.12	0.69794	.	0.068830	0.64402	D	0.000020	T	0.76183	0.3952	M	0.75615	2.305	0.47994	D	0.99956	D;P;D;D;D;D;D	0.76494	0.998;0.864;0.995;0.994;0.999;0.998;0.994	D;B;P;P;D;D;P	0.77557	0.99;0.114;0.647;0.885;0.975;0.945;0.885	T	0.79067	-0.1955	10	0.66056	D	0.02	-16.2448	17.3501	0.87321	0.0:0.0:1.0:0.0	.	406;812;541;808;808;812;812	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	Q	808;808;812;812;812	ENSP00000386192:R808Q;ENSP00000373905:R812Q;ENSP00000313164:R812Q	ENSP00000313164:R812Q	R	+	2	0	DNM2	10801946	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	8.584000	0.90798	2.403000	0.81681	0.550000	0.68814	CGG		0.697	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		202	862	0	0	0	1	0	202	862					A	10940946	G	A	10940946	3	1	79	1	0	0	0	0	1	0	0	0	4688	1116	39	1	2656	1	DNM2	19	10940946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6392	10940946	48188037	18645	28962											
CARM1	10498	broad.mit.edu	37	chr19	11019791	11019791	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccagttttatggctacCtgtcccagcagcagaacatg	9	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11019791C>A	ENST00000327064.4	+	4	656	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	156	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTATGGCTACCTGTCCCAGCA	0.597																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(466-468)Ctg>Atg		coactivator-associated arginine methyltransferase 1							106	75	86					19																	11019791		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11019791C>A	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.466C>A	19.37:g.11019791C>A	ENSP00000325690:p.Leu156Met					CARM1_ENST00000344150.4_Missense_Mutation_p.L156M	p.L156M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			4	656	+			156					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.466C>A	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435501	0.83885	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.23950	1.88;1.88	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.50667	0.1629	M	0.80183	2.485	0.80722	D	1	D	0.56968	0.978	D	0.67725	0.953	T	0.52786	-0.8529	10	0.59425	D	0.04	-2.8926	12.3792	0.55297	0.0:0.9184:0.0:0.0816	.	156	Q86X55	CARM1_HUMAN	M	156	ENSP00000325690:L156M;ENSP00000340934:L156M	ENSP00000325690:L156M	L	+	1	2	CARM1	10880791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.558000	0.60789	2.593000	0.87608	0.655000	0.94253	CTG		0.597	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		52	249	1	0	4.25531e-23	1	4.83061e-23	52	249					A	11019791	C	A	11019791	3	1	79	1	0	0	0	0	1	0	0	0	2662	680	24	3	480	3	CARM1	19	11019791	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78845	11019791	48109192	18646	28963											
CARM1	10498	broad.mit.edu	37	chr19	11024705	11024705	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctggagagctacctccaCgccaagaagtacctgaagcc	10	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11024705C>T	ENST00000327064.4	+	6	1012	c.822C>T	c.(820-822)caC>caT	p.H274H	CARM1_ENST00000344150.4_Silent_p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	274	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACCTCCACGCCAAGAAGT	0.637																																						ENST00000327064.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(820-822)caC>caT		coactivator-associated arginine methyltransferase 1							72	56	62					19																	11024705		2203	4300	6503	SO:0001819	synonymous_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11024705C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.822C>T	19.37:g.11024705C>T						CARM1_ENST00000344150.4_Silent_p.H274H	p.H274H	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN			6	1012	+			274					A6NN38	Silent	SNP	ENST00000327064.4	37	c.822C>T	CCDS12250.1																																																																																				0.637	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		31	104	0	0	0	1	0	31	104					T	11024705	C	T	11024705	2	4	79	1	0	0	0	0	0	0	0	1	2662	535	19	1		1	CARM1	19	11024705	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4914	11024705	48104278	18647	28964											
YIPF2	78992	broad.mit.edu	37	chr19	11034236	11034236	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcactgtggccaccaGcctggtgtcctcacggacca	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034236G>T	ENST00000586748.1	-	8	941	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M|YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	257						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGGCCACCAGCCTGGTGTCC	0.692																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(769-771)Ctg>Atg		Yip1 domain family, member 2							40	44	43					19																	11034236		2203	4298	6501	SO:0001583	missense	78992					integral to membrane|transport vesicle		g.chr19:11034236G>T	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.769C>A	19.37:g.11034236G>T	ENSP00000466055:p.Leu257Met					YIPF2_ENST00000590329.1_Missense_Mutation_p.L218M|YIPF2_ENST00000253031.2_Missense_Mutation_p.L257M	p.L257M			Q9BWQ6	YIPF2_HUMAN			8	941	-			257						Missense_Mutation	SNP	ENST00000586748.1	37	c.769C>A	CCDS12251.1	.	.	.	.	.	.	.	.	.	.	G	3.746	-0.052646	0.07362	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.58	-0.291	0.12843	.	0.819276	0.10936	N	0.617763	T	0.15955	0.0384	N	0.04508	-0.205	0.09310	N	1	B	0.20671	0.047	B	0.28465	0.09	T	0.27191	-1.0081	9	0.41790	T	0.15	.	4.2388	0.10638	0.0988:0.3781:0.3913:0.1319	.	257	Q9BWQ6	YIPF2_HUMAN	M	257	.	ENSP00000253031:L257M	L	-	1	2	YIPF2	10895236	0.000000	0.05858	0.005000	0.12908	0.104000	0.19210	-0.256000	0.08757	0.461000	0.27071	0.655000	0.94253	CTG		0.692	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		73	293	1	0	1.77355e-41	1	2.15486e-41	73	293					T	11034236	G	T	11034236	3	4	79	1	0	0	0	0	1	0	0	0	17532	962	34	3	189	3	YIPF2	19	11034236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9531	11034236	48094747	18648	28965											
YIPF2	78992	broad.mit.edu	37	chr19	11034607	11034607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacacccttgcgccaccGcaggaagccccacagggcca	11	18	0	0	rs199946753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034607G>A	ENST00000586748.1	-	7	725	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	185						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TTGCGCCACCGCAGGAAGCCC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18061	0.001		0.0	False		,,,				2504	0.0					ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(553-555)Cgg>Tgg		Yip1 domain family, member 2		G	TRP/ARG	0,4402		0,0,2201	43	45	44		553	-0.6	0.8	19		44	1,8595	1.2+/-3.3	0,1,4297	no	missense	YIPF2	NM_024029.3	101	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	185/317	11034607	1,12997	2201	4298	6499	SO:0001583	missense	78992					integral to membrane|transport vesicle		g.chr19:11034607G>A	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.553C>T	19.37:g.11034607G>A	ENSP00000466055:p.Arg185Trp					YIPF2_ENST00000590329.1_Missense_Mutation_p.R146W|YIPF2_ENST00000253031.2_Missense_Mutation_p.R185W	p.R185W			Q9BWQ6	YIPF2_HUMAN			7	725	-			185						Missense_Mutation	SNP	ENST00000586748.1	37	c.553C>T	CCDS12251.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.131	0.392309	0.11638	0.0	1.16E-4	ENSG00000130733	ENST00000253031	T	0.42131	0.98	5.61	-0.627	0.11541	Yip1 domain (1);	0.597682	0.18008	N	0.154655	T	0.26955	0.0660	L	0.38649	1.16	0.29600	N	0.847729	B	0.14012	0.009	B	0.10450	0.005	T	0.13415	-1.0510	10	0.33940	T	0.23	.	6.4344	0.21815	0.1359:0.0:0.5008:0.3633	.	185	Q9BWQ6	YIPF2_HUMAN	W	185	ENSP00000253031:R185W	ENSP00000253031:R185W	R	-	1	2	YIPF2	10895607	0.997000	0.39634	0.828000	0.32881	0.011000	0.07611	2.581000	0.46077	0.054000	0.16065	-2.177000	0.00319	CGG		0.637	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		23	111	0	0	0	1	0	23	111					A	11034607	G	A	11034607	3	1	79	1	0	0	0	0	1	0	0	0	17532	1086	38	1	409	1	YIPF2	19	11034607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	371	11034607	48094376	18649	28966											
SMARCA4	6597	broad.mit.edu	37	chr19	11105645	11105645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagaaagagaacgagCggatcgagaaggagcgcatg	16	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11105645C>T	ENST00000429416.3	+	10	1842	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	521	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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)				AGAGAACGAGCGGATCGAGAA	0.567			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1561-1563)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							142	111	121					19																	11105645		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11105645C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1561C>T	19.37:g.11105645C>T	ENSP00000395654:p.Arg521Trp					SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R521W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521W	p.R521W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			9	1845	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	521			HSA.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1561C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680126	0.47886	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.46	-0.935	0.10423	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91612	3.225	0.52501	D	0.999951	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.994;0.987;0.999;0.999	T	0.79140	-0.1926	10	0.87932	D	0	-32.9408	15.4281	0.75069	0.8024:0.1976:0.0:0.0	.	521;521;521;521;521;521;521	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	W	521	ENSP00000395654:R521W;ENSP00000350720:R521W;ENSP00000343896:R521W;ENSP00000445036:R521W;ENSP00000392837:R521W;ENSP00000397783:R521W;ENSP00000414727:R521W	ENSP00000343896:R521W	R	+	1	2	SMARCA4	10966645	0.953000	0.32496	0.003000	0.11579	0.487000	0.33371	0.223000	0.17719	-0.191000	0.10448	-0.309000	0.09137	CGG		0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		23	99	0	0	0	1	0	23	99					T	11105645	C	T	11105645	3	4	79	1	0	0	0	0	1	0	0	0	14820	759	27	1	1591	1	SMARCA4	19	11105645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71038	11105645	48023338	18650	28967											
SMARCA4	6597	broad.mit.edu	37	chr19	11107017	11107017	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggcagcacaaggctgcCcaggtcgccaaggagaaaaa	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11107017C>A	ENST00000429416.3	+	11	2003	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000358026.2_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	574					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.?(3)		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)				ACAAGGCTGCCCAGGTCGCCa	0.592			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		3	Unknown(3)	p.?(3)	lung(2)|prostate(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1720-1722)gcC>gcA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							80	75	77					19																	11107017		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11107017C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1722C>A	19.37:g.11107017C>A						SMARCA4_ENST00000444061.3_Silent_p.A574A|SMARCA4_ENST00000541122.2_Silent_p.A574A|SMARCA4_ENST00000589677.1_Silent_p.A574A|SMARCA4_ENST00000450717.3_Silent_p.A574A|SMARCA4_ENST00000413806.3_Silent_p.A574A|SMARCA4_ENST00000429416.3_Silent_p.A574A|SMARCA4_ENST00000590574.1_Silent_p.A574A|SMARCA4_ENST00000344626.4_Silent_p.A574A	p.A574A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			10	2006	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	574					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.1722C>A	CCDS12253.1																																																																																				0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		117	490	1	0	9.16818e-52	1	1.13871e-51	117	490					A	11107017	C	A	11107017	2	1	79	1	0	0	0	0	0	0	0	1	14820	610	22	3		3	SMARCA4	19	11107017	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1372	11107017	48021966	18651	28968											
SMARCA4	6597	broad.mit.edu	37	chr19	11134266	11134266	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcggcccttcttgctcCgacgactcaagaaggaagtc	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11134266C>T	ENST00000429416.3	+	21	3213	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	978					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)				CTTCTTGCTCCGACGACTCAA	0.572			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2932-2934)Cga>Tga		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							56	51	53					19																	11134266		2202	4300	6502	SO:0001587	stop_gained	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11134266C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2932C>T	19.37:g.11134266C>T	ENSP00000395654:p.Arg978*					SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R978*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R978*	p.R978*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			20	3216	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	978					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	37	c.2932C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	40	8.271704	0.98737	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.9	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.8503	12.3162	0.54958	0.2155:0.7845:0.0:0.0	.	.	.	.	X	978;978;1042;978;978;978;978;978	.	ENSP00000343896:R978X	R	+	1	2	SMARCA4	10995266	0.036000	0.19791	1.000000	0.80357	0.978000	0.69477	0.328000	0.19681	2.542000	0.85734	0.655000	0.94253	CGA		0.572	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		21	85	0	0	0	1	0	21	85					T	11134266	C	T	11134266	4	4	79	1	0	0	0	0	0	1	0	0	14820	644	23	1	3006	1	SMARCA4	19	11134266	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27249	11134266	47994717	18652	28969											
SMARCA4	6597	broad.mit.edu	37	chr19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagtcctccagccatgagCggcgcgccttcctgcaggcc	12	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11144146C>T	ENST00000429416.3	+	27	4008	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1243	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1243W(3)|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)				CAGCCATGAGCGGCGCGCCTT	0.637			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		4	Substitution - Missense(3)|Unknown(1)	p.R1243W(3)|p.?(1)	kidney(2)|lung(1)|central_nervous_system(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3727-3729)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							86	86	86					19																	11144146		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144146C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3727C>T	19.37:g.11144146C>T	ENSP00000395654:p.Arg1243Trp					SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W	p.R1243W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	4011	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1243			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3727C>T	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|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	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	SMARCA4|SMARCA4	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		24	662	0	0	0	1	0	24	662					T	11144146	C	T	11144146	3	4	79	1	0	0	0	0	1	0	0	0	14820	759	27	1	3825	1	SMARCA4	19	11144146	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9880	11144146	47984837	18653	28970											
SMARCA4	6597	broad.mit.edu	37	chr19	11152114	11152114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcagccgcgacaaggaCgacgagagcaagaagcagaa	13	12	0	3	rs146747026	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11152114C>T	ENST00000429416.3	+	31	4583	c.4302C>T	c.(4300-4302)gaC>gaT	p.D1434D	SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Silent_p.D1466D|SMARCA4_ENST00000344626.4_Silent_p.D1434D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000589677.1_Silent_p.D1404D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1434					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)				GCGACAAGGACGACGAGAGCA	0.612			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4396-4398)gaC>gaT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		C	,,,,,,	0,4404		0,0,2202	43	47	46		4302,4212,4212,4203,4203,4398,4302	-3.7	1	19	dbSNP_134	46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SMARCA4	NM_001128844.1,NM_001128845.1,NM_001128846.1,NM_001128847.1,NM_001128848.1,NM_001128849.1,NM_003072.3	,,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	1434/1648,1404/1618,1404/1617,1401/1615,1401/1614,1466/1680,1434/1648	11152114	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11152114C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4302C>T	19.37:g.11152114C>T						SMARCA4_ENST00000444061.3_Silent_p.D1401D|SMARCA4_ENST00000541122.2_Silent_p.D1404D|SMARCA4_ENST00000589677.1_Silent_p.D1404D|SMARCA4_ENST00000450717.3_Silent_p.D1404D|SMARCA4_ENST00000413806.3_Silent_p.D1404D|SMARCA4_ENST00000429416.3_Silent_p.D1434D|SMARCA4_ENST00000590574.1_Silent_p.D1401D|SMARCA4_ENST00000344626.4_Silent_p.D1434D	p.D1466D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			31	4682	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1434					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4398C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223480	0.22457	0.0	1.16E-4	ENSG00000127616	ENST00000538456	.	.	.	4.44	-3.66	0.04489	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-42.7996	6.6399	0.22903	0.0:0.3788:0.126:0.4952	.	.	.	.	X	206	.	.	R	+	1	2	SMARCA4	11013114	0.000000	0.05858	0.987000	0.45799	0.959000	0.62525	-1.961000	0.01516	-0.370000	0.08016	-0.363000	0.07495	CGA		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		41	173	0	0	0	1	0	41	173					T	11152114	C	T	11152114	2	4	79	1	0	0	0	0	0	0	0	1	14820	535	19	1		1	SMARCA4	19	11152114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7968	11152114	47976869	18654	28971											
SMARCA4	6597	broad.mit.edu	37	chr19	11170476	11170476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcttcaccagcgtgcgGcagaaaatcgagaaggagga	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170476G>A	ENST00000429416.3	+	34	4964	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R	SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000358026.2_Silent_p.R1593R|SMARCA4_ENST00000344626.4_Silent_p.R1561R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000589677.1_Silent_p.R1530R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1561					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)				CCAGCGTGCGGCAGAAAATCg	0.602			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4777-4779)cgG>cgA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							51	43	46					19																	11170476		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170476G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4683G>A	19.37:g.11170476G>A						SMARCA4_ENST00000444061.3_Silent_p.R1527R|SMARCA4_ENST00000541122.2_Silent_p.R1531R|SMARCA4_ENST00000589677.1_Silent_p.R1530R|SMARCA4_ENST00000450717.3_Silent_p.R1530R|SMARCA4_ENST00000413806.3_Silent_p.R1531R|SMARCA4_ENST00000429416.3_Silent_p.R1561R|SMARCA4_ENST00000590574.1_Silent_p.R1528R|SMARCA4_ENST00000344626.4_Silent_p.R1561R	p.R1593R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			34	5063	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1561					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4779G>A	CCDS12253.1																																																																																				0.602	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		20	84	0	0	0	1	0	20	84					A	11170476	G	A	11170476	2	1	79	1	0	0	0	0	0	0	0	1	14820	1190	42	2		2	SMARCA4	19	11170476	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18362	11170476	47958507	18655	28972											
SMARCA4	6597	broad.mit.edu	37	chr19	11170509	11170509	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggaggatgacagtgaaggCgaggagagtgaggaggagga	21	2	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170509C>T	ENST00000429416.3	+	34	4997	c.4716C>T	c.(4714-4716)ggC>ggT	p.G1572G	SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000358026.2_Silent_p.G1604G|SMARCA4_ENST00000344626.4_Silent_p.G1572G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000589677.1_Silent_p.G1541G	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1572	Poly-Glu.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				acagtgaaggcgaggagagtg	0.607			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4810-4812)ggC>ggT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							51	45	47					19																	11170509		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170509C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4716C>T	19.37:g.11170509C>T						SMARCA4_ENST00000444061.3_Silent_p.G1538G|SMARCA4_ENST00000541122.2_Silent_p.G1542G|SMARCA4_ENST00000589677.1_Silent_p.G1541G|SMARCA4_ENST00000450717.3_Silent_p.G1541G|SMARCA4_ENST00000413806.3_Silent_p.G1542G|SMARCA4_ENST00000429416.3_Silent_p.G1572G|SMARCA4_ENST00000590574.1_Silent_p.G1539G|SMARCA4_ENST00000344626.4_Silent_p.G1572G	p.G1604G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			34	5096	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1572					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4812C>T	CCDS12253.1																																																																																				0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		37	133	0	0	0	1	0	37	133					T	11170509	C	T	11170509	2	4	79	1	0	0	0	0	0	0	0	1	14820	755	27	1		1	SMARCA4	19	11170509	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	11170509	47958474	18656	28973											
KANK2	25959	broad.mit.edu	37	chr19	11303618	11303618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccacctcctggctgcGgaacacaggtgggctctcag	11	16	1	0	rs144821191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303618G>A	ENST00000586659.1	-	4	1452	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KANK2_ENST00000432929.2_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_Missense_Mutation_p.R380C			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	380					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTGGCTGCGGAACACAGGT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16197	0.0		0.001	False		,,,				2504	0.0					ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1138-1140)Cgc>Tgc		KN motif and ankyrin repeat domains 2		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	70	74	72		1138,1138	0.2	1	19	dbSNP_134	72	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense	KANK2	NM_001136191.2,NM_015493.6	180,180	0,11,6492	AA,AG,GG		0.1163,0.0227,0.0846	benign,benign	380/852,380/860	11303618	11,12995	2203	4300	6503	SO:0001583	missense	25959							g.chr19:11303618G>A	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.1138C>T	19.37:g.11303618G>A	ENSP00000465650:p.Arg380Cys					KANK2_ENST00000589894.1_Missense_Mutation_p.R380C|KANK2_ENST00000589359.1_Missense_Mutation_p.R380C|KANK2_ENST00000586659.1_Missense_Mutation_p.R380C|KANK2_ENST00000355150.5_Missense_Mutation_p.R380C	p.R380C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	1498	-			380					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.1138C>T	CCDS12255.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.976	0.550018	0.13374	2.27E-4	0.001163	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37235	1.21;1.21	4.11	0.147	0.14838	.	0.085848	0.43747	D	0.000540	T	0.24774	0.0601	L	0.45581	1.43	0.33354	D	0.571462	B;B;B	0.13145	0.001;0.001;0.007	B;B;B	0.06405	0.002;0.0;0.002	T	0.10474	-1.0628	10	0.37606	T	0.19	-34.2083	5.155	0.15031	0.305:0.0:0.546:0.149	.	380;380;380	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	C	380	ENSP00000395650:R380C;ENSP00000347276:R380C	ENSP00000347276:R380C	R	-	1	0	KANK2	11164618	0.023000	0.18921	0.998000	0.56505	0.366000	0.29705	0.248000	0.18198	0.224000	0.20940	-0.448000	0.05591	CGC		0.642	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		69	307	0	0	0	1	0	69	307					A	11303618	G	A	11303618	3	1	79	1	0	0	0	0	1	0	0	0	8007	1116	39	1	1481	1	KANK2	19	11303618	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133109	11303618	47825365	18657	28974											
KANK2	25959	broad.mit.edu	37	chr19	11303796	11303796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcggaccgggctgtccggCggtggccaggcctggggctg	20	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303796C>T	ENST00000586659.1	-	4	1274	c.960G>A	c.(958-960)ccG>ccA	p.P320P	KANK2_ENST00000432929.2_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000589894.1_Silent_p.P320P|KANK2_ENST00000355150.5_Silent_p.P320P			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	320					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGTCCGGCGGTGGCCAGG	0.726																																						ENST00000432929.2																			0				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(958-960)ccG>ccA		KN motif and ankyrin repeat domains 2							7	9	8					19																	11303796		2142	4154	6296	SO:0001819	synonymous_variant	25959							g.chr19:11303796C>T	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.960G>A	19.37:g.11303796C>T						KANK2_ENST00000589894.1_Silent_p.P320P|KANK2_ENST00000589359.1_Silent_p.P320P|KANK2_ENST00000586659.1_Silent_p.P320P|KANK2_ENST00000355150.5_Silent_p.P320P	p.P320P	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN			4	1320	-			320					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	c.960G>A	CCDS12255.1																																																																																				0.726	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		19	136	0	0	0	1	0	19	136					T	11303796	C	T	11303796	2	4	79	1	0	0	0	0	0	0	0	1	8007	755	27	1		1	KANK2	19	11303796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178	11303796	47825187	18658	28975											
DOCK6	57572	broad.mit.edu	37	chr19	11326479	11326479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtatgtcaccctcttaccaCgacttcgccgaaccatttct	6	15	3	0	rs558654486	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11326479C>T	ENST00000294618.7	-	31	4030	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1340					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCTTACCACGACTTCGCCG	0.542													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17186	0.0		0.0	False		,,,				2504	0.0					ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4018-4020)cGt>cAt		dedicator of cytokinesis 6							111	109	109					19																	11326479		1997	4168	6165	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326479C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4019G>A	19.37:g.11326479C>T	ENSP00000294618:p.Arg1340His					DOCK6_ENST00000319867.7_Missense_Mutation_p.R679H|CTC-510F12.2_ENST00000588634.1_RNA	p.R1340H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			31	4030	-			1340					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4019G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012642	0.93346	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.02863	4.13;4.13	5.29	4.23	0.50019	.	0.068952	0.56097	D	0.000035	T	0.11922	0.0290	M	0.72118	2.19	0.53005	D	0.999962	D;P	0.60160	0.987;0.951	P;P	0.61722	0.893;0.677	T	0.00832	-1.1548	10	0.66056	D	0.02	-15.8247	14.0834	0.64939	0.1521:0.8479:0.0:0.0	.	679;1340	C9IZV6;Q96HP0	.;DOCK6_HUMAN	H	1340;679	ENSP00000294618:R1340H;ENSP00000321556:R679H	ENSP00000294618:R1340H	R	-	2	0	DOCK6	11187479	1.000000	0.71417	0.680000	0.29994	0.821000	0.46438	7.524000	0.81866	1.416000	0.47057	0.591000	0.81541	CGT		0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		53	313	0	0	0	1	0	53	313					T	11326479	C	T	11326479	3	4	79	1	0	0	0	0	1	0	0	0	4707	536	19	1	2196	1	DOCK6	19	11326479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22683	11326479	47802504	18659	28976											
DOCK6	57572	broad.mit.edu	37	chr19	11361633	11361633	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgcgccggtccacatcttCtggggccgcccgctctagca	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11361633C>A	ENST00000294618.7	-	6	648	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	213					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCACATCTTCTGGGGCCGCC	0.652																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(637-639)Gaa>Taa		dedicator of cytokinesis 6							32	37	35					19																	11361633		1925	4115	6040	SO:0001587	stop_gained	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11361633C>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.637G>T	19.37:g.11361633C>A	ENSP00000294618:p.Glu213*						p.E213*	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			6	648	-			213					A6H8X5|Q7Z7P4|Q9P2F2	Nonsense_Mutation	SNP	ENST00000294618.7	37	c.637G>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635450	0.87760	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	0.114392	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.955	16.7706	0.85536	0.0:1.0:0.0:0.0	.	.	.	.	X	213	.	ENSP00000294618:E213X	E	-	1	0	DOCK6	11222633	1.000000	0.71417	0.443000	0.26883	0.074000	0.17049	7.185000	0.77714	2.250000	0.74265	0.462000	0.41574	GAA		0.652	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		37	192	1	0	2.75727e-19	1	3.0731e-19	37	192					A	11361633	C	A	11361633	4	1	79	1	0	0	0	0	0	1	0	0	4707	922	32	3	5678	3	DOCK6	19	11361633	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35154	11361633	47767350	18660	28977											
RAB3D	9545	broad.mit.edu	37	chr19	11436108	11436108	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggctggggggctggaGcatcccccacggccgggcct	18	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11436108G>T	ENST00000222120.3	-	5	886	c.626C>A	c.(625-627)gCt>gAt	p.A209D	CTC-510F12.4_ENST00000586356.1_RNA|CTC-510F12.6_ENST00000586051.1_RNA|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	209					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						GGGGGCTGGAGCATCCCCCAC	0.667																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(625-627)gCt>gAt		RAB3D, member RAS oncogene family							26	25	25					19																	11436108		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11436108G>T	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.626C>A	19.37:g.11436108G>T	ENSP00000222120:p.Ala209Asp					TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Missense_Mutation_p.A209D	p.A209D	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			5	886	-			209						Missense_Mutation	SNP	ENST00000222120.3	37	c.626C>A	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639183	0.29157	.	.	ENSG00000105514	ENST00000222120	T	0.62788	0.0	5.05	4.02	0.46733	.	0.702320	0.13155	N	0.409570	T	0.40815	0.1132	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.21999	-1.0229	10	0.23891	T	0.37	.	10.7626	0.46274	0.0896:0.0:0.9104:0.0	.	209	O95716	RAB3D_HUMAN	D	209	ENSP00000222120:A209D	ENSP00000222120:A209D	A	-	2	0	RAB3D	11297108	0.016000	0.18221	0.003000	0.11579	0.593000	0.36681	1.842000	0.39250	1.362000	0.46000	0.455000	0.32223	GCT		0.667	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		34	111	1	0	9.65021e-13	1	1.03847e-12	34	111					T	11436108	G	T	11436108	3	4	79	1	0	0	0	0	1	0	0	0	12984	971	34	3	37	3	RAB3D	19	11436108	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74475	11436108	47692875	18661	28978											
RAB3D	9545	broad.mit.edu	37	chr19	11447893	11447893	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatggcggtagacggtcttGaccttgaaatcgatgcccac	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11447893G>A	ENST00000222120.3	-	2	443	c.183C>T	c.(181-183)gtC>gtT	p.V61V	RAB3D_ENST00000589655.1_Silent_p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	61					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						AGACGGTCTTGACCTTGAAAT	0.572																																						ENST00000222120.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						c.(181-183)gtC>gtT		RAB3D, member RAS oncogene family							237	211	220					19																	11447893		2203	4300	6503	SO:0001819	synonymous_variant	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11447893G>A	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.183C>T	19.37:g.11447893G>A						RAB3D_ENST00000589655.1_Silent_p.V61V	p.V61V	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN			2	443	-			61						Silent	SNP	ENST00000222120.3	37	c.183C>T	CCDS12257.1																																																																																				0.572	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1	NM_004283		269	1137	0	0	0	1	0	269	1137					A	11447893	G	A	11447893	2	1	79	1	0	0	0	0	0	0	0	1	12984	1277	45	2		2	RAB3D	19	11447893	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11785	11447893	47681090	18662	28979											
CCDC159	126075	broad.mit.edu	37	chr19	11465331	11465331	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgactgtgaccaggacctctCccagccacctttcagcaaga	8	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11465331C>T	ENST00000588790.1	+	12	1295	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F|DKFZP761J1410_ENST00000591608.1_5'Flank|DKFZP761J1410_ENST00000251473.5_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	398										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGGACCTCTCCCAGCCACCT	0.652																																						ENST00000588790.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(847-849)tCc>tTc		coiled-coil domain containing 159							32	40	38					19																	11465331		2192	4293	6485	SO:0001583	missense	126075							g.chr19:11465331C>T	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.848C>T	19.37:g.11465331C>T	ENSP00000468232:p.Ser283Phe					CCDC159_ENST00000458408.1_Missense_Mutation_p.S283F	p.S283F			P0C7I6	CC159_HUMAN			12	1295	+			398					B4DEG3|B4DWR8|B4E133|B7ZAM4	Missense_Mutation	SNP	ENST00000588790.1	37	c.848C>T	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758685	0.49468	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.53206	0.63	3.1	-0.664	0.11406	.	.	.	.	.	T	0.44746	0.1308	L	0.44542	1.39	0.09310	N	1	D;B	0.58620	0.983;0.002	P;B	0.53649	0.731;0.003	T	0.33904	-0.9850	9	0.72032	D	0.01	.	3.0227	0.06080	0.0:0.4741:0.237:0.2889	.	398;283	P0C7I6;P0C7I6-2	CC159_HUMAN;.	F	283;398	ENSP00000402239:S283F	ENSP00000390400:S398F	S	+	2	0	CCDC159	11326331	0.000000	0.05858	0.001000	0.08648	0.232000	0.25224	-0.499000	0.06413	0.182000	0.20032	-0.339000	0.08088	TCC		0.652	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		11	64	0	0	0	1	0	11	64					T	11465331	C	T	11465331	3	4	79	1	0	0	0	0	1	0	0	0	2798	855	30	2	886	2	CCDC159	19	11465331	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17438	11465331	47663652	18663	28980											
EPOR	2057	broad.mit.edu	37	chr19	11492692	11492692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaggggcacgaagctcgacGtgtcggctgtaggcagcgaa	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492692G>A	ENST00000222139.6	-	3	445	c.341C>T	c.(340-342)aCg>aTg	p.T114M	EPOR_ENST00000592375.2_Missense_Mutation_p.T114M	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	114					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)	GAAGCTCGACGTGTCGGCTGT	0.622																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(340-342)aCg>aTg		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						60	53	55					19																	11492692		2203	4300	6503	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492692G>A	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.341C>T	19.37:g.11492692G>A	ENSP00000222139:p.Thr114Met					EPOR_ENST00000222139.6_Missense_Mutation_p.T114M	p.T114M			P19235	EPOR_HUMAN			3	445	-			114					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.341C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090546	0.76756	.	.	ENSG00000187266	ENST00000222139	D	0.84516	-1.86	4.18	4.18	0.49190	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.410322	0.20505	N	0.091004	D	0.86636	0.5980	L	0.57536	1.79	0.28431	N	0.917265	D	0.63046	0.992	P	0.52710	0.707	T	0.81512	-0.0899	10	0.49607	T	0.09	.	12.3535	0.55161	0.0:0.0:1.0:0.0	.	114	P19235	EPOR_HUMAN	M	114	ENSP00000222139:T114M	ENSP00000222139:T114M	T	-	2	0	EPOR	11353692	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.100000	0.64560	2.074000	0.62210	0.305000	0.20034	ACG		0.622	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			77	250	0	0	0	1	0	77	250					A	11492692	G	A	11492692	3	1	79	1	0	0	0	0	1	0	0	0	5207	1145	40	1	1209	1	EPOR	19	11492692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27361	11492692	47636291	18664	28981											
EPOR	2057	broad.mit.edu	37	chr19	11492759	11492759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgggagcctggtgcaggcGacacagcttccatggctcat	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492759G>A	ENST00000222139.6	-	3	378	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	EPOR_ENST00000592375.2_Missense_Mutation_p.R92C	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	92					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)	TGGTGCAGGCGACACAGCTTC	0.672																																						ENST00000592375.2																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(274-276)Cgc>Tgc		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						32	34	33					19																	11492759		2203	4299	6502	SO:0001583	missense	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11492759G>A	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.274C>T	19.37:g.11492759G>A	ENSP00000222139:p.Arg92Cys					EPOR_ENST00000222139.6_Missense_Mutation_p.R92C	p.R92C			P19235	EPOR_HUMAN			3	378	-			92					B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	ENST00000222139.6	37	c.274C>T	CCDS12260.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603898	0.66445	.	.	ENSG00000187266	ENST00000222139	D	0.83755	-1.76	3.65	-3.63	0.04529	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.627053	0.15001	N	0.286114	T	0.75796	0.3898	L	0.47716	1.5	0.18873	N	0.999987	D	0.55172	0.97	P	0.46885	0.53	T	0.69518	-0.5124	10	0.54805	T	0.06	-15.8409	7.3652	0.26768	0.0:0.1431:0.2483:0.6086	.	92	P19235	EPOR_HUMAN	C	92	ENSP00000222139:R92C	ENSP00000222139:R92C	R	-	1	0	EPOR	11353759	0.009000	0.17119	0.181000	0.23098	0.421000	0.31385	0.161000	0.16481	-0.322000	0.08615	0.305000	0.20034	CGC		0.672	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			54	172	0	0	0	1	0	54	172					A	11492759	G	A	11492759	3	1	79	1	0	0	0	0	1	0	0	0	5207	1058	37	1	1276	1	EPOR	19	11492759	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	11492759	47636224	18665	28982											
CCDC151	115948	broad.mit.edu	37	chr19	11534583	11534583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcgtccttgaccttgCcaaagatcacctccatctgg	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534583C>T	ENST00000356392.4	-	8	1166	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D|CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	360										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CTTGACCTTGCCAAAGATCAC	0.672																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1078-1080)gGc>gAc		coiled-coil domain containing 151							78	84	82					19																	11534583		2181	4270	6451	SO:0001583	missense	115948							g.chr19:11534583C>T		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.1079G>A	19.37:g.11534583C>T	ENSP00000348757:p.Gly360Asp					CCDC151_ENST00000586836.1_Missense_Mutation_p.G169D|CCDC151_ENST00000591179.1_Missense_Mutation_p.G300D|CCDC151_ENST00000545100.1_Missense_Mutation_p.G306D	p.G360D	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			8	1166	-			360					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.1079G>A	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	6.622	0.483272	0.12581	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.85258	-1.96;-1.96	4.24	1.98	0.26296	.	0.451517	0.22002	N	0.065987	T	0.68851	0.3046	N	0.22421	0.69	0.30711	N	0.749307	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.55964	-0.8057	10	0.14252	T	0.57	-22.3144	5.0199	0.14356	0.0:0.639:0.0:0.361	.	360;360;340	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	D	306;360;339	ENSP00000442987:G306D;ENSP00000348757:G360D	ENSP00000348757:G360D	G	-	2	0	CCDC151	11395583	0.890000	0.30428	0.934000	0.37439	0.953000	0.61014	0.280000	0.18790	0.995000	0.38917	-0.424000	0.05967	GGC		0.672	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		24	555	0	0	0	1	0	24	555					T	11534583	C	T	11534583	3	4	79	1	0	0	0	0	1	0	0	0	2793	739	26	2	732	2	CCDC151	19	11534583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41824	11534583	47594400	18666	28983											
CCDC151	115948	broad.mit.edu	37	chr19	11534691	11534691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtagcagcaggtgctcgCggtgggtctgctcgtgggtt	17	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534691C>T	ENST00000356392.4	-	8	1058	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H|CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	324										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTGCTCGCGGTGGGTCTG	0.662																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(970-972)cGc>cAc		coiled-coil domain containing 151							103	114	110					19																	11534691		2144	4253	6397	SO:0001583	missense	115948							g.chr19:11534691C>T		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.971G>A	19.37:g.11534691C>T	ENSP00000348757:p.Arg324His					CCDC151_ENST00000586836.1_Missense_Mutation_p.R133H|CCDC151_ENST00000591179.1_Missense_Mutation_p.R264H|CCDC151_ENST00000545100.1_Missense_Mutation_p.R270H	p.R324H	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN			8	1058	-			324					B4DXT0|Q96CG5	Missense_Mutation	SNP	ENST00000356392.4	37	c.971G>A	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.657951	0.67586	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83755	-1.76;-1.76	3.63	3.63	0.41609	.	0.605905	0.15707	N	0.248624	D	0.88548	0.6466	M	0.70595	2.14	0.36641	D	0.876856	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65773	0.938;0.938;0.938	D	0.89946	0.4076	10	0.54805	T	0.06	-9.2471	10.9377	0.47255	0.0:1.0:0.0:0.0	.	324;324;304	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	H	270;324;303	ENSP00000442987:R270H;ENSP00000348757:R324H	ENSP00000348757:R324H	R	-	2	0	CCDC151	11395691	0.981000	0.34729	0.608000	0.28969	0.013000	0.08279	1.889000	0.39718	2.014000	0.59158	0.491000	0.48974	CGC		0.662	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		186	849	0	0	0	1	0	186	849					T	11534691	C	T	11534691	3	4	79	1	0	0	0	0	1	0	0	0	2793	768	27	1	840	1	CCDC151	19	11534691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108	11534691	47594292	18667	28984											
PRKCSH	5589	broad.mit.edu	37	chr19	11557939	11557939	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacctctttctacgaccgCgtctgggccgccatcaggga	11	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11557939C>T	ENST00000589838.1	+	9	813	c.813C>T	c.(811-813)cgC>cgT	p.R271R	PRKCSH_ENST00000587327.1_Silent_p.R271R|PRKCSH_ENST00000252455.2_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000412601.1_Silent_p.R271R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	271	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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						TCTACGACCGCGTCTGGGCCG	0.637											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(811-813)cgC>cgT		protein kinase C substrate 80K-H							91	76	81					19																	11557939		2203	4300	6503	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11557939C>T		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.813C>T	19.37:g.11557939C>T			OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	673	PRKCSH_ENST00000412601.1_Silent_p.R271R|PRKCSH_ENST00000592741.1_Silent_p.R271R|PRKCSH_ENST00000591462.1_Silent_p.R271R|PRKCSH_ENST00000589838.1_Silent_p.R271R|PRKCSH_ENST00000587327.1_Silent_p.R271R	p.R271R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			10	1149	+			271			EF-hand 2.		A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.813C>T	CCDS32911.1																																																																																				0.637	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			72	282	0	0	0	1	0	72	282					T	11557939	C	T	11557939	2	4	79	1	0	0	0	0	0	0	0	1	12563	755	27	1		1	PRKCSH	19	11557939	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23248	11557939	47571044	18668	28985											
PRKCSH	5589	broad.mit.edu	37	chr19	11560084	11560084	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtctgcccatccccaggtgCgcctcctgtgcgggaaagag	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11560084C>T	ENST00000589838.1	+	16	1444	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000252455.2_Missense_Mutation_p.R482C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	482					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						TCCCCAGGTGCGCCTCCTGTG	0.692																																						ENST00000252455.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						c.(1444-1446)Cgc>Tgc		protein kinase C substrate 80K-H							51	46	48					19																	11560084		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11560084C>T		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.1444C>T	19.37:g.11560084C>T	ENSP00000465461:p.Arg482Cys					PRKCSH_ENST00000412601.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000592741.1_Missense_Mutation_p.R489C|PRKCSH_ENST00000591462.1_Missense_Mutation_p.R479C|PRKCSH_ENST00000589838.1_Missense_Mutation_p.R482C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.R479C	p.R482C	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			17	1780	+			482					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.1444C>T	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921617	0.52653	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.77229	-1.08;-1.08	3.46	2.3	0.28687	Mannose-6-phosphate receptor, binding (1);	0.293432	0.28493	N	0.015158	T	0.80292	0.4596	L	0.52011	1.625	0.44762	D	0.997761	D;D;D;D	0.89917	1.0;1.0;0.99;1.0	D;D;P;D	0.65874	0.939;0.939;0.86;0.939	T	0.77608	-0.2524	10	0.38643	T	0.18	-25.7659	8.2518	0.31730	0.4322:0.5678:0.0:0.0	.	489;489;479;482	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	C	482;479	ENSP00000252455:R482C;ENSP00000395616:R479C	ENSP00000252455:R482C	R	+	1	0	PRKCSH	11421084	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.509000	0.45459	1.928000	0.55862	0.563000	0.77884	CGC		0.692	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			78	405	0	0	0	1	0	78	405					T	11560084	C	T	11560084	3	4	79	1	0	0	0	0	1	0	0	0	12563	768	27	1	1527	1	PRKCSH	19	11560084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2145	11560084	47568899	18669	28986											
ELAVL3	1995	broad.mit.edu	37	chr19	11568960	11568960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagcagcgcctgccccGtcttctgacttgggttgttc	14	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11568960G>A	ENST00000359227.3	-	5	1053	c.629C>T	c.(628-630)aCg>aTg	p.T210M	ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	210					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGCCTGCCCCGTCTTCTGACT	0.627																																						ENST00000359227.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(628-630)aCg>aTg		ELAV like neuron-specific RNA binding protein 3							90	80	83					19																	11568960		2203	4300	6503	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11568960G>A		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.629C>T	19.37:g.11568960G>A	ENSP00000352162:p.Thr210Met					ELAVL3_ENST00000438662.2_Missense_Mutation_p.T210M	p.T210M	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN			5	1053	-			210					Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.629C>T	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047153	0.55110	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.08720	3.36;3.06	4.95	3.89	0.44902	Nucleotide-binding, alpha-beta plait (1);	0.052555	0.85682	D	0.000000	T	0.10380	0.0254	M	0.64997	1.995	0.80722	D	1	B;B	0.31256	0.211;0.316	B;B	0.25987	0.048;0.065	T	0.07693	-1.0759	10	0.31617	T	0.26	.	13.5258	0.61594	0.0:0.0:0.8423:0.1577	.	210;210	Q14576;Q14576-2	ELAV3_HUMAN;.	M	210	ENSP00000352162:T210M;ENSP00000390878:T210M	ENSP00000352162:T210M	T	-	2	0	ELAVL3	11429960	1.000000	0.71417	0.837000	0.33122	0.967000	0.64934	9.395000	0.97266	1.068000	0.40764	0.478000	0.44815	ACG		0.627	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		84	370	0	0	0	1	0	84	370					A	11568960	G	A	11568960	3	1	79	1	0	0	0	0	1	0	0	0	5069	1145	40	1	486	1	ELAVL3	19	11568960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8876	11568960	47560023	18670	28987											
ELOF1	84337	broad.mit.edu	37	chr19	11664626	11664626	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atccacgggttctgacagatCtgggccacttaggtcaaggg	13	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11664626C>A	ENST00000252445.3	-	4	251		c.e4-1		ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000586683.1_Intron|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000591674.1_Splice_Site|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000589171.1_Missense_Mutation_p.Q64H|ELOF1_ENST00000591912.1_3'UTR	NM_032377.3	NP_115753.1	P60002	ELOF1_HUMAN	elongation factor 1 homolog (S. cerevisiae)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.?(1)		endometrium(3)|lung(2)	5						TCTGACAGATCTGGGCCACTT	0.597																																						ENST00000589171.1																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(3)|lung(2)	5						c.(190-192)caG>caT		elongation factor 1 homolog (S. cerevisiae)							93	86	88					19																	11664626		2203	4300	6503	SO:0001630	splice_region_variant	84337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr19:11664626C>A	AK001171	CCDS12264.1	19p13.2	2008-02-05	2006-02-13			ENSG00000130165			28691	protein-coding gene	gene with protein product			"elongation factor 1 homolog (ELF1, S. cerevisiae)"			12477932	Standard	NM_032377		Approved	MGC4549, ELF1	uc002mse.1	P60002		ENST00000252445.3:c.188-1G>T	19.37:g.11664626C>A						ELOF1_ENST00000591912.1_3'UTR|ELOF1_ENST00000590700.1_Splice_Site|ELOF1_ENST00000586120.1_Splice_Site|ELOF1_ENST00000252445.3_Splice_Site|ELOF1_ENST00000591674.1_Splice_Site|ELOF1_ENST00000587806.1_Splice_Site|ELOF1_ENST00000586683.1_Intron	p.Q64H			P60002	ELOF1_HUMAN			4	388	-			0					Q8R1J7|Q96II4	Missense_Mutation	SNP	ENST00000252445.3	37	c.192G>T	CCDS12264.1	.	.	.	.	.	.	.	.	.	.	C	5.541	0.284702	0.10513	.	.	ENSG00000130165	ENST00000252445	.	.	.	4.9	1.52	0.23074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2736	0.15638	0.162:0.6613:0.0:0.1767	.	.	.	.	.	-1	.	.	.	-	.	.	ELOF1	11525626	1.000000	0.71417	0.719000	0.30619	0.003000	0.03518	5.084000	0.64462	0.122000	0.18314	-0.277000	0.10078	.		0.597	ELOF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458868.1	NM_032377	Intron	82	317	1	0	4.64247e-43	1	5.66271e-43	82	317					A	11664626	C	A	11664626	5	1	79	1	0	0	0	0	0	0	1	0	5090	927	32	3	68	3	ELOF1	19	11664626	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95666	11664626	47464357	18671	28988											
ACP5	54	broad.mit.edu	37	chr19	11686037	11686037	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcccagccccactcagcaCgtagcccacgccattctcat	5	19	2	0	rs146196342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11686037C>T	ENST00000592828.1	-	7	1168	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	ACP5_ENST00000433365.2_Missense_Mutation_p.V256M|ACP5_ENST00000412435.2_Missense_Mutation_p.V256M|ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ACP5_ENST00000590420.1_Intron|ZNF627_ENST00000588651.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	256					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)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCACTCAGCACGTAGCCCACG	0.587																																						ENST00000592828.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						c.(766-768)Gtg>Atg		acid phosphatase 5, tartrate resistant							63	49	53					19																	11686037		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11686037C>T	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.766G>A	19.37:g.11686037C>T	ENSP00000468767:p.Val256Met					ACP5_ENST00000412435.2_Missense_Mutation_p.V256M|ZNF627_ENST00000588651.1_Intron|ACP5_ENST00000218758.5_Missense_Mutation_p.V256M|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.V256M	p.V256M	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN			7	1168	-			256					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.766G>A	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354051	0.24512	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.71461	-0.57;-0.57;-0.57	4.82	2.55	0.30701	.	0.279582	0.35525	N	0.003156	T	0.57359	0.2048	L	0.56280	1.765	0.80722	D	1	P	0.37101	0.582	B	0.28465	0.09	T	0.52815	-0.8525	10	0.48119	T	0.1	-17.5314	7.146	0.25583	0.0:0.69:0.0:0.31	.	256	P13686	PPA5_HUMAN	M	256	ENSP00000218758:V256M;ENSP00000392374:V256M;ENSP00000413456:V256M	ENSP00000218758:V256M	V	-	1	0	ACP5	11547037	0.882000	0.30256	0.823000	0.32752	0.264000	0.26372	1.619000	0.36965	0.355000	0.24131	0.550000	0.68814	GTG		0.587	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1			54	250	0	0	0	1	0	54	250					T	11686037	C	T	11686037	3	4	79	1	0	0	0	0	1	0	0	0	164	536	19	1	215	1	ACP5	19	11686037	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21411	11686037	47442946	18672	28989											
ZNF627	199692	broad.mit.edu	37	chr19	11727652	11727652	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggagaagttggcatgGgtccttcatcacttaatagg	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727652G>T	ENST00000361113.5	+	4	542	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTTGGCATGGGTCCTTCATC	0.433																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(334-336)Ggt>Tgt		zinc finger protein 627							158	159	159					19																	11727652		2142	4269	6411	SO:0001583	missense	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11727652G>T	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.334G>T	19.37:g.11727652G>T	ENSP00000354414:p.Gly112Cys					ZNF627_ENST00000588174.1_3'UTR	p.G112C	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN			4	542	+			112					O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	c.334G>T	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	8.558	0.877179	0.17395	.	.	ENSG00000198551	ENST00000361113	T	0.14893	2.47	1.36	-2.73	0.05950	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.07954	0.0199	N	0.17594	0.5	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32719	-0.9896	9	0.36615	T	0.2	.	2.9306	0.05799	0.0:0.3208:0.2676:0.4116	.	112	Q7L945	ZN627_HUMAN	C	112	ENSP00000354414:G112C	ENSP00000354414:G112C	G	+	1	0	ZNF627	11588652	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.992000	0.00162	-0.782000	0.04541	0.313000	0.20887	GGT		0.433	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		90	568	1	0	2.16659e-41	1	2.63151e-41	90	568					T	11727652	G	T	11727652	3	4	79	1	0	0	0	0	1	0	0	0	18104	1232	43	3	348	3	ZNF627	19	11727652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41615	11727652	47401331	18673	28990											
ZNF627	199692	broad.mit.edu	37	chr19	11727882	11727882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcgaagacacatgttaacGcataggggaggtgtacctta	11	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727882G>A	ENST00000361113.5	+	4	772	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACATGTTAACGCATAGGGGAG	0.413																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(562-564)acG>acA		zinc finger protein 627							85	88	87					19																	11727882		2183	4287	6470	SO:0001819	synonymous_variant	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11727882G>A	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.564G>A	19.37:g.11727882G>A						ZNF627_ENST00000588174.1_3'UTR	p.T188T	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN			4	772	+			188					O14846|Q4KMP9|Q6NT81|Q9BRG4	Silent	SNP	ENST00000361113.5	37	c.564G>A	CCDS42502.1																																																																																				0.413	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295		55	236	0	0	0	1	0	55	236					A	11727882	G	A	11727882	2	1	79	1	0	0	0	0	0	0	0	1	18104	1074	38	1		1	ZNF627	19	11727882	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	11727882	47401101	18674	28991											
ZNF823	55552	broad.mit.edu	37	chr19	11832603	11832603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacattccttacattcataCagcttctctccagtgtgagt	5	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11832603C>T	ENST00000341191.6	-	4	1899	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	ZNF823_ENST00000545749.1_Silent_p.L400L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	582					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						TACATTCATACAGCTTCTCTC	0.418										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1744-1746)ctG>ctA		zinc finger protein 823							91	91	91					19																	11832603		2203	4300	6503	SO:0001819	synonymous_variant	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832603C>T	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.1746G>A	19.37:g.11832603C>T		HNSCC(68;0.2)				ZNF823_ENST00000545749.1_Silent_p.L400L	p.L582L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN			4	1899	-			582					A0PJL4|B7Z8D4|Q6P4A9	Silent	SNP	ENST00000341191.6	37	c.1746G>A	CCDS45981.1																																																																																				0.418	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		83	328	0	0	0	1	0	83	328					T	11832603	C	T	11832603	2	4	79	1	0	0	0	0	0	0	0	1	18232	465	17	2		2	ZNF823	19	11832603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104721	11832603	47296380	18675	28992											
ZNF441	126068	broad.mit.edu	37	chr19	11892674	11892674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtaaagaatgtggggaaGcatttcattgtatcagttcc	11	5	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11892674G>A	ENST00000357901.4	+	4	2137	c.2035G>A	c.(2035-2037)Gca>Aca	p.A679T	ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGGGGAAGCATTTCATTG	0.393																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(2035-2037)Gca>Aca		zinc finger protein 441							69	75	73					19																	11892674		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892674G>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.2035G>A	19.37:g.11892674G>A	ENSP00000350576:p.Ala679Thr					ZNF441_ENST00000454339.2_Missense_Mutation_p.A612T	p.A679T	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	2137	+			679						Missense_Mutation	SNP	ENST00000357901.4	37	c.2035G>A	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	g	0.091	-1.167675	0.01660	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.60797	0.16;0.16	1.04	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	.	.	.	.	T	0.34658	0.0905	N	0.20807	0.61	0.09310	N	1	B	0.21452	0.056	B	0.20384	0.029	T	0.11916	-1.0568	9	0.33141	T	0.24	.	3.5164	0.07726	0.2866:0.0:0.4456:0.2678	.	679	Q8N8Z8	ZN441_HUMAN	T	635;679;612	ENSP00000350576:A679T;ENSP00000403738:A612T	ENSP00000350576:A679T	A	+	1	0	ZNF441	11753674	0.000000	0.05858	0.001000	0.08648	0.267000	0.26476	-1.245000	0.02899	-1.183000	0.02723	-1.842000	0.00583	GCA		0.393	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		41	178	0	0	0	1	0	41	178					A	11892674	G	A	11892674	3	1	79	1	0	0	0	0	1	0	0	0	17967	971	34	2	2049	2	ZNF441	19	11892674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60071	11892674	47236309	18676	28993											
ZNF491	126069	broad.mit.edu	37	chr19	11917376	11917376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatttttccagttcctttcGcagacatgaaaggacacaca	6	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11917376G>A	ENST00000323169.5	+	3	939	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	203					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						AGTTCCTTTCGCAGACATGAA	0.438																																						ENST00000323169.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(607-609)cGc>cAc		zinc finger protein 491							55	55	55					19																	11917376		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917376G>A	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.608G>A	19.37:g.11917376G>A	ENSP00000313443:p.Arg203His					ZNF491_ENST00000492230.1_Intron	p.R203H	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN			3	939	+			203					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.608G>A	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	1.956	-0.440106	0.04636	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.00792	5.69	0.892	-0.203	0.13204	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00754	0.0025	L	0.43646	1.37	0.09310	N	1	D	0.69078	0.997	B	0.40982	0.345	T	0.50915	-0.8771	9	0.52906	T	0.07	.	1.8977	0.03261	0.417:0.0:0.3131:0.2699	.	203	Q8N8L2	ZN491_HUMAN	H	203	ENSP00000313443:R203H	ENSP00000313443:R203H	R	+	2	0	ZNF491	11778376	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.506000	0.02271	-0.041000	0.13558	0.407000	0.27541	CGC		0.438	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		39	172	0	0	0	1	0	39	172					A	11917376	G	A	11917376	3	1	79	1	0	0	0	0	1	0	0	0	17995	1087	38	1	610	1	ZNF491	19	11917376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24702	11917376	47211607	18677	28994											
ZNF440	126070	broad.mit.edu	37	chr19	11942469	11942469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagataccgcccctcctttAgaacacaagaaagggatcac	7	13	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11942469A>G	ENST00000304060.5	+	4	642	c.478A>G	c.(478-480)Aga>Gga	p.R160G		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	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)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCTCCTTTAGAACACAAGA	0.413																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(478-480)Aga>Gga		zinc finger protein 440							121	124	123					19																	11942469		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942469A>G	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.478A>G	19.37:g.11942469A>G	ENSP00000305373:p.Arg160Gly						p.R160G	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	642	+			160					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.478A>G	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	7.908	0.735858	0.15574	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.29655	1.56;2.37;2.39;5.6	0.724	-1.45	0.08828	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.72118	2.19	0.09310	N	1	D	0.60160	0.987	P	0.60173	0.87	T	0.31833	-0.9929	9	0.42905	T	0.14	.	4.0694	0.09876	0.383:0.256:0.361:0.0	.	160	Q8IYI8	ZN440_HUMAN	G	160;38;163;162	ENSP00000305373:R160G;ENSP00000404425:R38G;ENSP00000393489:R163G;ENSP00000411974:R162G	ENSP00000305373:R160G	R	+	1	2	ZNF440	11803469	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.943000	0.03917	-1.616000	0.01572	-1.231000	0.01572	AGA		0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		156	697	0	0	0	1	0	156	697					G	11942469	A	G	11942469	3	3	79	1	0	0	0	0	1	0	0	0	17966	412	15	4	492	4	ZNF440	19	11942469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25093	11942469	47186514	18678	28995											
ZNF700	90592	broad.mit.edu	37	chr19	12059625	12059625	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatcctttacttattcTgctacccttcaaatacatga	4	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12059625T>C	ENST00000254321.5	+	4	929	c.786T>C	c.(784-786)tcT>tcC	p.S262S	ZNF700_ENST00000482090.1_Silent_p.S244S|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	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)		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						TTACTTATTCTGCTACCCTTC	0.358																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(730-732)tcT>tcC		zinc finger protein 700							48	47	48					19																	12059625		2203	4300	6503	SO:0001819	synonymous_variant	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12059625T>C	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.786T>C	19.37:g.12059625T>C						ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.S262S|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.S244S			Q9H0M5	ZN700_HUMAN			3	1150	+			262					B9EGU4	Silent	SNP	ENST00000254321.5	37	c.732T>C	CCDS32915.1																																																																																				0.358	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		36	207	0	0	0	1	0	36	207					C	12059625	T	C	12059625	2	2	79	1	0	0	0	0	0	0	0	1	18157	1567	55	4		4	ZNF700	19	12059625	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	117156	12059625	47069358	18679	28996											
ZNF700	90592	broad.mit.edu	37	chr19	12060148	12060148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcacagcttcgagtgcacGgtgggactcacactggagag	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12060148G>A	ENST00000254321.5	+	4	1452	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	ZNF700_ENST00000482090.1_Missense_Mutation_p.G419S|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	437					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						TCGAGTGCACGGTGGGACTCA	0.483																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1255-1257)Ggt>Agt		zinc finger protein 700							89	81	84					19																	12060148		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060148G>A	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1309G>A	19.37:g.12060148G>A	ENSP00000254321:p.Gly437Ser					ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G437S|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron	p.G419S			Q9H0M5	ZN700_HUMAN			3	1673	+			437					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1255G>A	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	7.306	0.614090	0.14066	.	.	ENSG00000196757	ENST00000254321	T	0.35236	1.32	0.527	-1.05	0.10036	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12603	0.0306	N	0.02539	-0.55	0.09310	N	1	P	0.38729	0.644	B	0.36289	0.221	T	0.13575	-1.0504	9	0.66056	D	0.02	.	3.5455	0.07827	0.2333:0.4453:0.3214:0.0	.	437	Q9H0M5	ZN700_HUMAN	S	437	ENSP00000254321:G437S	ENSP00000254321:G437S	G	+	1	0	ZNF700	11921148	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.369000	0.07533	-0.421000	0.07416	-1.098000	0.02139	GGT		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		9	421	0	0	0	1	0	9	421					A	12060148	G	A	12060148	3	1	79	1	0	0	0	0	1	0	0	0	18157	1116	39	1	1323	1	ZNF700	19	12060148	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	523	12060148	47068835	18680	28997											
ZNF763	284390	broad.mit.edu	37	chr19	12089241	12089241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaagaaaggaatcacaccGgagagaaaccctatgcttgt	9	10	1	2	rs182487066	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089241G>A	ENST00000358987.3	+	4	629	c.502G>A	c.(502-504)Gga>Aga	p.G168R	ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R|ZNF763_ENST00000343949.5_Missense_Mutation_p.G171R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R|ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	168					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						GAATCACACCGGAGAGAAACC	0.428													g|||	10	0.00199681	0.003	0.0058	5008	,	,		21533	0.0		0.002	False		,,,				2504	0.0					ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(511-513)Gga>Aga		zinc finger protein 763		G	ARG/GLY	14,4378	797.9+/-415.4	0,14,2182	108	114	112		511	0.5	0	19		112	18,8582	809.7+/-407.1	0,18,4282	yes	missense	ZNF763	NM_001012753.1	125	0,32,6464	AA,AG,GG		0.2093,0.3188,0.2463		171/398	12089241	32,12960	2196	4300	6496	SO:0001583	missense	284390							g.chr19:12089241G>A	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.502G>A	19.37:g.12089241G>A	ENSP00000402017:p.Gly168Arg					ZNF763_ENST00000545530.1_Missense_Mutation_p.G46R|ZNF763_ENST00000590798.1_Missense_Mutation_p.G188R|ZNF763_ENST00000358987.3_Missense_Mutation_p.G168R|ZNF763_ENST00000538752.1_Missense_Mutation_p.G188R	p.G171R	NM_001012753.1	NP_001012771.1					4	666	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.511G>A		3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	a	9.824	1.186558	0.21870	0.003188	0.002093	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	1.68	0.523	0.17060	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16128	0.0388	L	0.48362	1.52	0.21915	N	0.999476	B;B;P	0.34977	0.06;0.024;0.478	B;B;B	0.17722	0.019;0.017;0.017	T	0.15435	-1.0437	9	0.59425	D	0.04	.	4.247	0.10675	0.403:0.0:0.597:0.0	.	188;168;171	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	R	188;171;46;168	ENSP00000438117:G188R;ENSP00000369774:G171R;ENSP00000446166:G46R;ENSP00000402017:G168R	ENSP00000369774:G171R	G	+	1	0	ZNF763	11950241	0.002000	0.14202	0.018000	0.16275	0.088000	0.18126	0.870000	0.28010	0.031000	0.15407	0.195000	0.17529	GGA		0.428	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		143	592	0	0	0	1	0	143	592					A	12089241	G	A	12089241	3	1	79	1	0	0	0	0	1	0	0	0	18190	1117	39	1	525	1	ZNF763	19	12089241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29093	12089241	47039742	18681	28998											
ZNF433	163059	broad.mit.edu	37	chr19	12125671	12125671	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcctggggttatggggtgtCtatgcagtgagcccttccat	14	9	1	1	rs190101419		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125671C>A	ENST00000344980.6	-	4	2181	c.2011G>T	c.(2011-2013)Gac>Tac	p.D671Y	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.D636Y	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	671					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						tatgggGTGTCTATGCAGTGA	0.478																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1906-1908)Gac>Tac		zinc finger protein 433							40	42	42					19																	12125671		2103	4228	6331	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125671C>A	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.2011G>T	19.37:g.12125671C>A	ENSP00000339767:p.Asp671Tyr					CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.D671Y|CTD-2006C1.2_ENST00000495324.1_RNA	p.D636Y			Q8N7K0	ZN433_HUMAN			5	2197	-			671					Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.1906G>T	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743643	0.15642	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.07021	3.23;3.35	0.839	-0.352	0.12598	Zinc finger, C2H2 (1);	.	.	.	.	T	0.07413	0.0187	L	0.50847	1.595	0.09310	N	1	B	0.28713	0.22	B	0.23018	0.043	T	0.31503	-0.9941	9	0.87932	D	0	.	4.5031	0.11874	0.0:0.7341:0.0:0.2659	.	671	Q8N7K0	ZN433_HUMAN	Y	636;671	ENSP00000393416:D636Y;ENSP00000339767:D671Y	ENSP00000339767:D671Y	D	-	1	0	ZNF433	11986671	0.121000	0.22262	0.000000	0.03702	0.172000	0.22775	0.868000	0.27982	-0.104000	0.12154	0.313000	0.20887	GAC		0.478	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		13	44	1	0	0.00010058	1	0.000102273	13	44					A	12125671	C	A	12125671	3	1	79	1	0	0	0	0	1	0	0	0	17960	913	32	3	14	3	ZNF433	19	12125671	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36430	12125671	47003312	18682	28999											
ZNF433	163059	broad.mit.edu	37	chr19	12125782	12125782	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgagtccttccatgccttcGaaggtttgagggacatccaa	11	10	0	2	rs201271699	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125782G>A	ENST00000344980.6	-	4	2070	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Nonsense_Mutation_p.R599*	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	634					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						CCATGCCTTCGAAGGTTTGAG	0.443													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22100	0.0		0.0	False		,,,				2504	0.0					ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(1795-1797)Cga>Tga		zinc finger protein 433		G	stop/ARG	5,4395	8.1+/-20.4	0,5,2195	82	86	85		1900	-2.7	0	19		85	0,8600		0,0,4300	no	stop-gained	ZNF433	NM_001080411.1		0,5,6495	AA,AG,GG		0.0,0.1136,0.0385		634/674	12125782	5,12995	2200	4300	6500	SO:0001587	stop_gained	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12125782G>A	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"Zinc fingers, C2H2-type", "-"	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1900C>T	19.37:g.12125782G>A	ENSP00000339767:p.Arg634*					CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Nonsense_Mutation_p.R634*|CTD-2006C1.2_ENST00000495324.1_RNA	p.R599*			Q8N7K0	ZN433_HUMAN			5	2086	-			634					Q86VX3	Nonsense_Mutation	SNP	ENST00000344980.6	37	c.1795C>T	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	G	36	5.838562	0.97009	0.001136	0.0	ENSG00000197647	ENST00000419886;ENST00000344980	.	.	.	1.35	-2.71	0.05986	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	0.4753	0.00538	0.2561:0.1476:0.3216:0.2746	.	.	.	.	X	599;634	.	ENSP00000339767:R634X	R	-	1	2	ZNF433	11986782	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	-2.246000	0.01191	-1.887000	0.01115	0.313000	0.20887	CGA		0.443	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		63	283	0	0	0	1	0	63	283					A	12125782	G	A	12125782	4	1	79	1	0	0	0	0	0	1	0	0	17960	1066	37	1	125	1	ZNF433	19	12125782	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	12125782	47003201	18683	29000											
ZNF878	729747	broad.mit.edu	37	chr19	12154660	12154660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcttttgaaggattgagGcagatctaaaggctttacca	10	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12154660G>A	ENST00000547628.1	-	4	1693	c.1556C>T	c.(1555-1557)gCc>gTc	p.A519V	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.A566V|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	519					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						AAGGATTGAGGCAGATCTAAA	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1696-1698)gCc>gTc		zinc finger protein 878							69	77	74					19																	12154660		2191	4292	6483	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12154660G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1556C>T	19.37:g.12154660G>A	ENSP00000447931:p.Ala519Val					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.A519V|CTD-2006C1.10_ENST00000547473.1_Intron	p.A566V			C9JN71	ZN878_HUMAN			5	1696	-			519						Missense_Mutation	SNP	ENST00000547628.1	37	c.1697C>T	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150337	0.06585	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.28069	1.63	1.49	-2.97	0.05530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15912	0.0383	L	0.31420	0.93	0.09310	N	1	P	0.44734	0.842	B	0.36922	0.236	T	0.05007	-1.0912	9	0.40728	T	0.16	.	4.1742	0.10345	0.4878:0.0:0.2714:0.2408	.	519	C9JN71	ZN878_HUMAN	V	519;566	ENSP00000447931:A519V	ENSP00000447931:A519V	A	-	2	0	AC022415.4;ZNF878	12015660	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.020000	0.13466	-2.235000	0.00714	-1.925000	0.00514	GCC		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		16	185	0	0	0	1	0	16	185					A	12154660	G	A	12154660	3	1	79	1	0	0	0	0	1	0	0	0	18249	1203	42	2	43	2	ZNF878	19	12154660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28878	12154660	46974323	18684	29001											
ZNF878	729747	broad.mit.edu	37	chr19	12155662	12155662	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttctttcatgtctacgaacaGaactgggaaaactgaatgct	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12155662G>T	ENST00000547628.1	-	4	691	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S232Y|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	185					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						TCTACGAACAGAACTGGGAAA	0.398																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(694-696)tCt>tAt		zinc finger protein 878							174	185	181					19																	12155662		2114	4259	6373	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155662G>T		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.554C>A	19.37:g.12155662G>T	ENSP00000447931:p.Ser185Tyr					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S185Y|CTD-2006C1.10_ENST00000547473.1_Intron	p.S232Y			C9JN71	ZN878_HUMAN			5	694	-			185						Missense_Mutation	SNP	ENST00000547628.1	37	c.695C>A	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	G	1.280	-0.610728	0.03690	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07567	3.18	1.3	-2.6	0.06190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.25992	0.78	0.09310	N	1	D	0.64830	0.994	P	0.61658	0.892	T	0.17471	-1.0368	9	0.14656	T	0.56	.	3.84	0.08911	0.2036:0.0:0.1891:0.6073	.	185	C9JN71	ZN878_HUMAN	Y	185;232	ENSP00000447931:S185Y	ENSP00000447931:S185Y	S	-	2	0	AC022415.4;ZNF878	12016662	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.401000	0.07232	-0.859000	0.04105	-0.656000	0.03901	TCT		0.398	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		164	833	1	0	4.48024e-70	1	5.69e-70	164	833					T	12155662	G	T	12155662	3	4	79	1	0	0	0	0	1	0	0	0	18249	942	33	3	1045	3	ZNF878	19	12155662	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1002	12155662	46973321	18685	29002											
ZNF625	90589	broad.mit.edu	37	chr19	12256281	12256281	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccttccatgtgttcgaaggTgcgaggcagatctgaaggct	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12256281T>C	ENST00000355738.1	-	4	1101	c.752A>G	c.(751-753)cAc>cGc	p.H251R	ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625_ENST00000455799.1_3'UTR|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TGTTCGAAGGTGCGAGGCAGA	0.433																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(751-753)cAc>cGc		zinc finger protein 625							120	116	117					19																	12256281		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256281T>C	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.752A>G	19.37:g.12256281T>C	ENSP00000347977:p.His251Arg					ZNF625_ENST00000542938.1_Missense_Mutation_p.H251R|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Missense_Mutation_p.H317R|ZNF625_ENST00000455799.1_3'UTR	p.H251R			Q96I27	ZN625_HUMAN			4	1101	-			251					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.752A>G		.	.	.	.	.	.	.	.	.	.	T	9.889	1.203583	0.22121	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.12984	2.63;2.63;2.63	1.13	-1.87	0.07737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07683	0.0193	L	0.38692	1.165	0.09310	N	1	B;P	0.36162	0.011;0.54	B;B	0.34093	0.004;0.175	T	0.30031	-0.9992	9	0.25751	T	0.34	.	2.0453	0.03559	0.4188:0.0:0.3046:0.2765	.	251;251	A8K8U0;Q96I27	.;ZN625_HUMAN	R	251;251;317	ENSP00000438436:H251R;ENSP00000347977:H251R;ENSP00000394380:H317R	ENSP00000347977:H251R	H	-	2	0	AC022415.5	12117281	0.000000	0.05858	0.000000	0.03702	0.873000	0.50193	-8.705000	0.00017	-0.491000	0.06697	0.260000	0.18958	CAC		0.433	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		108	512	0	0	0	1	0	108	512					C	12256281	T	C	12256281	3	2	79	1	0	0	0	0	1	0	0	0	18102	1696	59	4	172	4	ZNF625	19	12256281	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	100619	12256281	46872702	18686	29003											
ZNF136	7695	broad.mit.edu	37	chr19	12298401	12298401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgtgggaaaccctttcattCtctgagtccatttcgaatac	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298401C>A	ENST00000343979.4	+	4	1348	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	403					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						CCCTTTCATTCTCTGAGTCCA	0.383																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1207-1209)tCt>tAt		zinc finger protein 136							73	67	69					19																	12298401		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298401C>A	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.1208C>A	19.37:g.12298401C>A	ENSP00000344162:p.Ser403Tyr					ZNF136_ENST00000398616.2_Missense_Mutation_p.S337Y	p.S403Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	1348	+			403						Missense_Mutation	SNP	ENST00000343979.4	37	c.1208C>A	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	4.216	0.038960	0.08148	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.06608	3.28;3.28	1.4	-2.8	0.05823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.05487	-0.04	0.09310	N	1	P	0.43231	0.801	B	0.31191	0.125	T	0.45145	-0.9281	8	.	.	.	.	4.8689	0.13622	0.0:0.1802:0.4533:0.3665	.	403	P52737	ZN136_HUMAN	Y	403;337	ENSP00000344162:S403Y;ENSP00000381617:S337Y	.	S	+	2	0	ZNF136	12159401	0.000000	0.05858	0.000000	0.03702	0.997000	0.91878	-3.496000	0.00451	-1.012000	0.03387	0.655000	0.94253	TCT		0.383	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		54	234	1	0	9.55421e-19	1	1.06232e-18	54	234					A	12298401	C	A	12298401	3	1	79	1	0	0	0	0	1	0	0	0	17779	913	32	3	1222	3	ZNF136	19	12298401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42120	12298401	46830582	18687	29004											
ZNF136	7695	broad.mit.edu	37	chr19	12298499	12298499	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgtttcttcaacatcaattCgaatacatgaaagaactcat	4	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298499C>T	ENST00000343979.4	+	4	1446	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	436					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						AACATCAATTCGAATACATGA	0.373																																						ENST00000343979.4																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1306-1308)Cga>Tga		zinc finger protein 136							58	55	56					19																	12298499		2203	4300	6503	SO:0001587	stop_gained	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298499C>T	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.1306C>T	19.37:g.12298499C>T	ENSP00000344162:p.Arg436*					ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R370*	p.R436*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN			4	1446	+			436						Nonsense_Mutation	SNP	ENST00000343979.4	37	c.1306C>T	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110029	0.94292	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.25	0.105	0.14535	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6072	0.02686	0.3018:0.3472:0.0:0.351	.	.	.	.	X	436;370	.	.	R	+	1	2	ZNF136	12159499	0.000000	0.05858	0.011000	0.14972	0.796000	0.44982	-0.138000	0.10374	0.066000	0.16515	-0.181000	0.13052	CGA		0.373	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		37	171	0	0	0	1	0	37	171					T	12298499	C	T	12298499	4	4	79	1	0	0	0	0	0	1	0	0	17779	876	31	1	1320	1	ZNF136	19	12298499	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	98	12298499	46830484	18688	29005											
ZNF563	147837	broad.mit.edu	37	chr19	12429836	12429836	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatcttacatttatgaggtcGatctccagtgtgccttttca	7	9	3	1	rs555208908		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12429836G>A	ENST00000293725.5	-	4	1208	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTATGAGGTCGATCTCCAGTG	0.418																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1003-1005)Cga>Tga		zinc finger protein 563							170	161	164					19																	12429836		2203	4300	6503	SO:0001587	stop_gained	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429836G>A	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.1003C>T	19.37:g.12429836G>A	ENSP00000293725:p.Arg335*						p.R335*	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1208	-			335					B2R9E7|Q8NAT7	Nonsense_Mutation	SNP	ENST00000293725.5	37	c.1003C>T	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	G	37	6.253265	0.97417	.	.	ENSG00000188868	ENST00000293725	.	.	.	1.0	-2.0	0.07433	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.7609	0.08603	0.0:0.1741:0.2295:0.5964	.	.	.	.	X	335	.	ENSP00000293725:R335X	R	-	1	2	ZNF563	12290836	0.000000	0.05858	0.004000	0.12327	0.944000	0.59088	-0.006000	0.12833	-0.855000	0.04125	0.313000	0.20887	CGA		0.418	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		154	743	0	0	0	1	0	154	743					A	12429836	G	A	12429836	4	1	79	1	0	0	0	0	0	1	0	0	18047	1066	37	1	431	1	ZNF563	19	12429836	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131337	12429836	46699147	18689	29006											
ZNF799	90576	broad.mit.edu	37	chr19	12503438	12503438	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttagatttttcctgggatatCtatattgatcttcaatgttc	6	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12503438C>A	ENST00000430385.3	-	3	370	c.170G>T	c.(169-171)aGa>aTa	p.R57I	ZNF799_ENST00000419318.1_Missense_Mutation_p.R25I|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I|ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCTGGGATATCTATATTGATC	0.299																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(73-75)aGa>aTa		zinc finger protein 799							84	87	86					19																	12503438		2201	4295	6496	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12503438C>A	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"Zinc fingers, C2H2-type", "-"	28071	protein-coding gene	gene with protein product			"zinc finger protein 842"	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.170G>T	19.37:g.12503438C>A	ENSP00000411084:p.Arg57Ile					ZNF799_ENST00000595766.1_3'UTR|CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R57I|ZNF799_ENST00000430385.3_Missense_Mutation_p.R57I	p.R25I			Q96GE5	ZN799_HUMAN			3	823	-			57			KRAB.			Missense_Mutation	SNP	ENST00000430385.3	37	c.74G>T	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	C	5.363	0.252252	0.10185	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08458	3.09;3.2	1.18	-0.0066	0.14012	Krueppel-associated box (2);	.	.	.	.	T	0.04318	0.0119	N	0.17278	0.47	0.09310	N	1	B	0.19331	0.035	B	0.15484	0.013	T	0.41787	-0.9489	9	0.39692	T	0.17	.	2.2344	0.04004	0.0:0.2258:0.3164:0.4577	.	57	Q96GE5	ZN799_HUMAN	I	25;57	ENSP00000415278:R25I;ENSP00000411084:R57I	ENSP00000415278:R25I	R	-	2	0	ZNF799	12364438	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-0.212000	0.09319	-0.027000	0.13873	-0.634000	0.03986	AGA		0.299	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		8	287	1	0	3.09899e-07	1	3.21319e-07	8	287					A	12503438	C	A	12503438	3	1	79	1	0	0	0	0	1	0	0	0	18219	913	32	3	1769	3	ZNF799	19	12503438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73602	12503438	46625545	18690	29007											
ZNF443	10224	broad.mit.edu	37	chr19	12541219	12541219	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttaccacattgtggacaTtcataggatttctctctcat	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541219T>C	ENST00000301547.5	-	4	1964	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	589					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						ATTGTGGACATTCATAGGATT	0.413																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1765-1767)gaA>gaG		zinc finger protein 443							124	123	123					19																	12541219		2203	4300	6503	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541219T>C	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.1767A>G	19.37:g.12541219T>C						CTD-3105H18.16_ENST00000595562.1_Intron	p.E589E	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1964	-			589						Silent	SNP	ENST00000301547.5	37	c.1767A>G	CCDS32918.1																																																																																				0.413	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		101	420	0	0	0	1	0	101	420					C	12541219	T	C	12541219	2	2	79	1	0	0	0	0	0	0	0	1	17969	1490	52	4		4	ZNF443	19	12541219	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37781	12541219	46587764	18691	29008											
ZNF443	10224	broad.mit.edu	37	chr19	12541361	12541361	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctttaagttatcataatgaCcgaaggctttcctacatgtt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541361C>T	ENST00000301547.5	-	4	1822	c.1625G>A	c.(1624-1626)gGt>gAt	p.G542D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	542					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						ATCATAATGACCGAAGGCTTT	0.403																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1624-1626)gGt>gAt		zinc finger protein 443							120	114	116					19																	12541361		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541361C>T	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.1625G>A	19.37:g.12541361C>T	ENSP00000301547:p.Gly542Asp					CTD-3105H18.16_ENST00000595562.1_Intron	p.G542D	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	1822	-			542						Missense_Mutation	SNP	ENST00000301547.5	37	c.1625G>A	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	5.613	0.297925	0.10622	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07444	3.19	1.37	-1.44	0.08856	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.16066	0.365	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.41161	-0.9524	9	0.40728	T	0.16	.	4.9344	0.13934	0.567:0.2447:0.1883:0.0	.	542	Q9Y2A4	ZN443_HUMAN	D	542	ENSP00000301547:G542D	ENSP00000301547:G542D	G	-	2	0	ZNF443	12402361	0.000000	0.05858	0.011000	0.14972	0.069000	0.16628	-7.078000	0.00045	-0.289000	0.09038	0.461000	0.40582	GGT		0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		17	477	0	0	0	1	0	17	477					T	12541361	C	T	12541361	3	4	79	1	0	0	0	0	1	0	0	0	17969	507	18	2	394	2	ZNF443	19	12541361	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142	12541361	46587622	18692	29009											
ZNF443	10224	broad.mit.edu	37	chr19	12542335	12542335	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctctccagtgtgcgtTctttcatgcatatgtaataa	8	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12542335T>G	ENST00000301547.5	-	4	848	c.651A>C	c.(649-651)agA>agC	p.R217S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	217					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						CAGTGTGCGTTCTTTCATGCA	0.398																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(649-651)agA>agC		zinc finger protein 443							125	125	125					19																	12542335		2203	4299	6502	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542335T>G	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.651A>C	19.37:g.12542335T>G	ENSP00000301547:p.Arg217Ser					CTD-3105H18.16_ENST00000595562.1_Intron	p.R217S	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	848	-			217						Missense_Mutation	SNP	ENST00000301547.5	37	c.651A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510590	0.64522	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.24151	1.87	1.37	0.313	0.15842	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	M	0.64676	1.99	0.21802	N	0.99954	D	0.89917	1.0	D	0.85130	0.997	T	0.16129	-1.0413	9	0.56958	D	0.05	.	5.5417	0.17041	0.0:0.1681:0.0:0.8319	.	217	Q9Y2A4	ZN443_HUMAN	S	217	ENSP00000301547:R217S	ENSP00000301547:R217S	R	-	3	2	ZNF443	12403335	0.000000	0.05858	0.016000	0.15963	0.662000	0.39071	-1.840000	0.01684	0.046000	0.15833	0.378000	0.23410	AGA		0.398	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		168	700	0	0	0	1	0	168	700					G	12542335	T	G	12542335	3	3	79	1	0	0	0	0	1	0	0	0	17969	1780	62	4	1368	4	ZNF443	19	12542335	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	974	12542335	46586648	18693	29010											
ZNF443	10224	broad.mit.edu	37	chr19	12543223	12543223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatatctatattgatcTtcaatgttctggtctttcca	7	8	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12543223T>G	ENST00000301547.5	-	3	356	c.159A>C	c.(157-159)gaA>gaC	p.E53D	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						TATATTGATCTTCAATGTTCT	0.294																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(157-159)gaA>gaC		zinc finger protein 443							68	76	73					19																	12543223		2201	4292	6493	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12543223T>G	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.159A>C	19.37:g.12543223T>G	ENSP00000301547:p.Glu53Asp					CTD-3105H18.16_ENST00000595562.1_Intron	p.E53D	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			3	356	-			53			KRAB.			Missense_Mutation	SNP	ENST00000301547.5	37	c.159A>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336043	0.24253	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.00873	5.59	1.28	0.133	0.14766	Krueppel-associated box (3);	.	.	.	.	T	0.00967	0.0032	L	0.39326	1.205	0.20638	N	0.999871	B	0.14012	0.009	B	0.13407	0.009	T	0.45101	-0.9284	9	0.31617	T	0.26	.	5.4506	0.16563	0.0:0.0:0.2877:0.7123	.	53	Q9Y2A4	ZN443_HUMAN	D	53	ENSP00000301547:E53D	ENSP00000301547:E53D	E	-	3	2	ZNF443	12404223	0.006000	0.16342	0.085000	0.20634	0.318000	0.28184	0.267000	0.18552	0.007000	0.14760	-0.827000	0.03088	GAA		0.294	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		18	154	0	0	0	1	0	18	154					G	12543223	T	G	12543223	3	3	79	1	0	0	0	0	1	0	0	0	17969	1606	56	4	1864	4	ZNF443	19	12543223	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	888	12543223	46585760	18694	29011											
ZNF709	163051	broad.mit.edu	37	chr19	12575729	12575729	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcccacattccttacaatcaTagggtttctctcctgtatga	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12575729T>C	ENST00000397732.3	-	4	1178	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTACAATCATAGGGTTTCTC	0.358																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1006-1008)tAt>tGt		zinc finger protein 709							66	73	71					19																	12575729		2194	4298	6492	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575729T>C	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.1007A>G	19.37:g.12575729T>C	ENSP00000380840:p.Tyr336Cys					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.Y336C	p.Y336C	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1178	-			336					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1007A>G	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.349899	0.41599	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.25414	1.8;1.8	2.71	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32314	N	0.006261	T	0.31136	0.0787	M	0.78344	2.41	0.09310	N	1	P	0.36125	0.538	B	0.43194	0.411	T	0.25779	-1.0122	10	0.87932	D	0	.	4.0244	0.09680	0.0:0.1249:0.2126:0.6625	.	336	Q8N972	ZN709_HUMAN	C	336	ENSP00000380840:Y336C;ENSP00000404127:Y336C	ENSP00000404127:Y336C	Y	-	2	0	ZNF709;CTD-2192J16.17	12436729	0.002000	0.14202	0.664000	0.29753	0.994000	0.84299	0.025000	0.13577	0.481000	0.27557	0.383000	0.25322	TAT		0.358	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		29	401	0	0	0	1	0	29	401					C	12575729	T	C	12575729	3	2	79	1	0	0	0	0	1	0	0	0	18166	1406	49	4	922	4	ZNF709	19	12575729	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	32506	12575729	46553254	18695	29012											
ZNF709	163051	broad.mit.edu	37	chr19	12576512	12576512	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaaactgactacctTctttcctttcacagagcctc	3	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12576512T>G	ENST00000397732.3	-	4	395	c.224A>C	c.(223-225)gAa>gCa	p.E75A	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	75	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTGACTACCTTCTTTCCTTTC	0.328																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(223-225)gAa>gCa		zinc finger protein 709							88	72	77					19																	12576512		1838	4099	5937	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12576512T>G	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.224A>C	19.37:g.12576512T>G	ENSP00000380840:p.Glu75Ala					CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.E75A	p.E75A	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	395	-			75			KRAB.		A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.224A>C	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.178007	0.57692	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.05855	3.38;5.1;3.38	2.81	2.81	0.32909	Krueppel-associated box (1);	1.016590	0.07923	N	0.976251	T	0.10423	0.0255	L	0.57536	1.79	0.24101	N	0.99588	P	0.52316	0.952	B	0.43950	0.437	T	0.28713	-1.0035	10	0.62326	D	0.03	.	9.3748	0.38277	0.0:0.0:0.0:1.0	.	75	Q8N972	ZN709_HUMAN	A	75;104;75	ENSP00000380840:E75A;ENSP00000398085:E104A;ENSP00000404127:E75A	ENSP00000404127:E75A	E	-	2	0	ZNF709;CTD-2192J16.17	12437512	0.007000	0.16637	0.633000	0.29310	0.263000	0.26337	1.824000	0.39072	1.542000	0.49330	0.260000	0.18958	GAA		0.328	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		42	145	0	0	0	1	0	42	145					G	12576512	T	G	12576512	3	3	79	1	0	0	0	0	1	0	0	0	18166	1783	62	4	1705	4	ZNF709	19	12576512	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	783	12576512	46552471	18696	29013											
ZNF564	163050	broad.mit.edu	37	chr19	12638554	12638554	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttgtgtccaaggtgagatCtgatgtgcctactaagggat	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12638554C>A	ENST00000339282.7	-	4	564	c.368G>T	c.(367-369)aGa>aTa	p.R123I	CTD-2192J16.21_ENST00000601420.1_RNA|CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	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(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAGGTGAGATCTGATGTGCCT	0.383																																						ENST00000339282.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(367-369)aGa>aTa		zinc finger protein 564							117	121	120					19																	12638554		2162	4282	6444	SO:0001583	missense	163050							g.chr19:12638554C>A	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.368G>T	19.37:g.12638554C>A	ENSP00000340004:p.Arg123Ile					CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	p.R123I	NM_144976.3	NP_659413.1					4	564	-								B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	c.368G>T	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272807	0.59649	.	.	ENSG00000249709	ENST00000339282	T	0.24908	1.83	1.71	-2.2	0.06994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	M	0.68952	2.095	0.09310	N	0.999995	B	0.24576	0.106	B	0.34931	0.192	T	0.48896	-0.8994	9	0.66056	D	0.02	.	0.3553	0.00355	0.1979:0.2175:0.1971:0.3876	.	123	Q8TBZ8	ZN564_HUMAN	I	123	ENSP00000340004:R123I	ENSP00000340004:R123I	R	-	2	0	ZNF564	12499554	0.000000	0.05858	0.001000	0.08648	0.889000	0.51656	-1.537000	0.02206	-0.514000	0.06488	0.643000	0.83706	AGA		0.383	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976		77	319	1	0	1.76847e-28	1	2.05822e-28	77	319					A	12638554	C	A	12638554	3	1	79	1	0	0	0	0	1	0	0	0	18048	913	32	3	1297	3	ZNF564	19	12638554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62042	12638554	46490429	18697	29014											
ZNF490	57474	broad.mit.edu	37	chr19	12692016	12692016	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgtgggttagaaaaggCtggtaatatataaaggcttt	11	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12692016C>A	ENST00000311437.6	-	5	995	c.873G>T	c.(871-873)caG>caT	p.Q291H	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTAGAAAAGGCTGGTAATATA	0.428																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(871-873)caG>caT		zinc finger protein 490							79	78	78					19																	12692016		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12692016C>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.873G>T	19.37:g.12692016C>A	ENSP00000311521:p.Gln291His						p.Q291H	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	995	-			291						Missense_Mutation	SNP	ENST00000311437.6	37	c.873G>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	4.383	0.070744	0.08436	.	.	ENSG00000188033	ENST00000311437	T	0.08984	3.03	0.996	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.12887	0.27	0.09310	N	1	P	0.47034	0.889	B	0.40565	0.333	T	0.25779	-1.0122	9	0.87932	D	0	.	2.6343	0.04953	0.2996:0.2591:0.0:0.4413	.	291	Q9ULM2	ZN490_HUMAN	H	291	ENSP00000311521:Q291H	ENSP00000311521:Q291H	Q	-	3	2	ZNF490	12553016	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-6.240000	0.00074	-1.451000	0.01933	-0.339000	0.08088	CAG		0.428	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		74	357	1	0	1.92445e-52	1	2.39376e-52	74	357					A	12692016	C	A	12692016	3	1	79	1	0	0	0	0	1	0	0	0	17994	796	28	3	720	3	ZNF490	19	12692016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53462	12692016	46436967	18698	29015											
ZNF490	57474	broad.mit.edu	37	chr19	12694290	12694290	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcccgcatcacatctctgtaGatattcctctggccaggatc	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12694290G>A	ENST00000311437.6	-	3	365	c.243C>T	c.(241-243)atC>atT	p.I81I	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	81	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATCTCTGTAGATATTCCTCT	0.488																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(241-243)atC>atT		zinc finger protein 490							116	113	114					19																	12694290		2203	4300	6503	SO:0001819	synonymous_variant	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12694290G>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"Zinc fingers, C2H2-type", "-"	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.243C>T	19.37:g.12694290G>A							p.I81I	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			3	365	-			81			KRAB.			Silent	SNP	ENST00000311437.6	37	c.243C>T	CCDS12272.1																																																																																				0.488	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		26	561	0	0	0	1	0	26	561					A	12694290	G	A	12694290	2	1	79	1	0	0	0	0	0	0	0	1	17994	932	33	2		2	ZNF490	19	12694290	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2274	12694290	46434693	18699	29016											
ZNF791	163049	broad.mit.edu	37	chr19	12738624	12738624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagtgtgacgaagaagaCtgccggagtaaaaccatatg	11	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12738624C>T	ENST00000343325.4	+	4	443	c.281C>T	c.(280-282)aCt>aTt	p.T94I	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	94					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						ACGAAGAAGACTGCCGGAGTA	0.443																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(280-282)aCt>aTt		zinc finger protein 791							153	146	149					19																	12738624		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12738624C>T	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.281C>T	19.37:g.12738624C>T	ENSP00000342974:p.Thr94Ile					ZNF791_ENST00000458122.3_Missense_Mutation_p.T62I|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_5'UTR	p.T94I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	443	+			94					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.281C>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	0.496	-0.873322	0.02570	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122	T;T	0.06294	3.42;3.32	1.22	0.0184	0.14117	.	.	.	.	.	T	0.04227	0.0117	N	0.16656	0.425	0.09310	N	0.999994	B	0.16166	0.016	B	0.19391	0.025	T	0.41034	-0.9531	9	0.62326	D	0.03	.	6.1824	0.20478	0.2991:0.7009:0.0:0.0	.	94	Q3KP31	ZN791_HUMAN	I	94;94;62	ENSP00000342974:T94I;ENSP00000441761:T62I	ENSP00000342974:T94I	T	+	2	0	ZNF791	12599624	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.071000	0.14594	0.052000	0.16007	0.484000	0.47621	ACT		0.443	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		161	683	0	0	0	1	0	161	683					T	12738624	C	T	12738624	3	4	79	1	0	0	0	0	1	0	0	0	18216	565	20	2	295	2	ZNF791	19	12738624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44334	12738624	46390359	18700	29017											
ZNF791	163049	broad.mit.edu	37	chr19	12739034	12739034	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagttgttccagttctAttcgagtacacgaaagaact	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12739034A>T	ENST00000343325.4	+	4	853	c.691A>T	c.(691-693)Att>Ttt	p.I231F	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|AC010422.1_ENST00000408416.1_RNA	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTCCAGTTCTATTCGAGTACA	0.423																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(691-693)Att>Ttt		zinc finger protein 791							60	58	59					19																	12739034		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739034A>T	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.691A>T	19.37:g.12739034A>T	ENSP00000342974:p.Ile231Phe					ZNF791_ENST00000458122.3_Missense_Mutation_p.I199F|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.I122F	p.I231F	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	853	+			231					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.691A>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413989	0.11870	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.08282	3.11;3.11;3.11	1.83	0.603	0.17541	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.03294	-0.36	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.42766	-0.9432	9	0.40728	T	0.16	.	2.4812	0.04587	0.3467:0.4553:0.0:0.198	.	231	Q3KP31	ZN791_HUMAN	F	231;213;199;122	ENSP00000342974:I231F;ENSP00000441761:I199F;ENSP00000441038:I122F	ENSP00000342974:I231F	I	+	1	0	ZNF791	12600034	0.004000	0.15560	0.980000	0.43619	0.804000	0.45430	0.000000	0.12993	0.036000	0.15547	0.402000	0.26972	ATT		0.423	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		65	253	0	0	0	1	0	65	253					T	12739034	A	T	12739034	3	4	79	1	0	0	0	0	1	0	0	0	18216	449	16	5	705	5	ZNF791	19	12739034	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	410	12739034	46389949	18701	29018											
MAN2B1	4125	broad.mit.edu	37	chr19	12759192	12759192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccgatactccgcgtccatCgtccttcagcagccttcggt	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12759192C>T	ENST00000456935.2	-	21	2501	c.2461G>A	c.(2461-2463)Gat>Aat	p.D821N	MAN2B1_ENST00000221363.4_Missense_Mutation_p.D820N|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R7Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	821					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						CCGCGTCCATCGTCCTTCAGC	0.667																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2461-2463)Gat>Aat		mannosidase, alpha, class 2B, member 1							31	25	27					19																	12759192		2187	4264	6451	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12759192C>T		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.2461G>A	19.37:g.12759192C>T	ENSP00000395473:p.Asp821Asn					MAN2B1_ENST00000221363.4_Missense_Mutation_p.D820N|CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R7Q	p.D821N	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			21	2501	-			821					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2461G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267364	0.95399	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.90563	-2.69;-2.69	5.61	5.61	0.85477	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.161289	0.29314	N	0.012504	D	0.96886	0.8983	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97833	1.0264	10	0.87932	D	0	-38.297	17.1287	0.86721	0.0:1.0:0.0:0.0	.	820;821	G5E928;O00754	.;MA2B1_HUMAN	N	821;760;820	ENSP00000395473:D821N;ENSP00000221363:D820N	ENSP00000221363:D820N	D	-	1	0	MAN2B1	12620192	1.000000	0.71417	0.042000	0.18584	0.012000	0.07955	6.130000	0.71663	2.634000	0.89283	0.561000	0.74099	GAT		0.667	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			7	221	0	0	0	1	0	7	221					T	12759192	C	T	12759192	3	4	79	1	0	0	0	0	1	0	0	0	9257	884	31	1	590	1	MAN2B1	19	12759192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20158	12759192	46369791	18702	29019											
WDR83	84292	broad.mit.edu	37	chr19	12784068	12784068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactgctgcctgagcgagCgtgacacacatgtggtcagc	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12784068C>T	ENST00000418543.3	+	10	1085	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.R246C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	246					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)		p.R246C(1)		breast(2)|large_intestine(1)|lung(1)	4						CCTGAGCGAGCGTGACACACA	0.587																																						ENST00000418543.3																			1	Substitution - Missense(1)	p.R246C(1)	large_intestine(1)	breast(2)|large_intestine(1)|lung(1)	4						c.(736-738)Cgt>Tgt		WD repeat domain 83							157	145	149					19																	12784068		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12784068C>T	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.736C>T	19.37:g.12784068C>T	ENSP00000402653:p.Arg246Cys					WDR83_ENST00000242796.4_Missense_Mutation_p.R246C	p.R246C	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			10	1085	+			246					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.736C>T	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866536	0.72065	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.81247	-1.47;-1.47	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.174525	0.50627	D	0.000101	T	0.78175	0.4242	N	0.25825	0.765	0.49299	D	0.999771	D	0.63046	0.992	P	0.54174	0.744	T	0.79776	-0.1661	10	0.59425	D	0.04	.	11.6736	0.51417	0.2845:0.7154:0.0:0.0	.	246	Q9BRX9	WDR83_HUMAN	C	246	ENSP00000402653:R246C;ENSP00000242796:R246C	ENSP00000242796:R246C	R	+	1	0	WDR83	12645068	1.000000	0.71417	0.984000	0.44739	0.564000	0.35744	4.499000	0.60380	2.549000	0.85964	0.561000	0.74099	CGT		0.587	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		71	322	0	0	0	1	0	71	322					T	12784068	C	T	12784068	3	4	79	1	0	0	0	0	1	0	0	0	17386	768	27	1	766	1	WDR83	19	12784068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24876	12784068	46344915	18703	29020											
DHPS	1725	broad.mit.edu	37	chr19	12790297	12790297	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcccagtaatacacggactCtgggttgttgatctccttgc	11	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12790297C>A	ENST00000210060.7	-	5	787	c.652G>T	c.(652-654)Gag>Tag	p.E218*	DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000599481.1_5'Flank|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	218					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						TACACGGACTCTGGGTTGTTG	0.537																																						ENST00000210060.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(652-654)Gag>Tag		deoxyhypusine synthase	Sulfadoxine(DB01299)						194	179	184					19																	12790297		2203	4300	6503	SO:0001587	stop_gained	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12790297C>A	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"migration-inducing gene 13"	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.652G>T	19.37:g.12790297C>A	ENSP00000210060:p.Glu218*					DHPS_ENST00000351660.5_Nonsense_Mutation_p.E218*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.E176*	p.E218*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN			5	787	-			218					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Nonsense_Mutation	SNP	ENST00000210060.7	37	c.652G>T	CCDS12276.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500388	0.97616	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	.	.	.	5.45	5.45	0.79879	.	0.268691	0.41605	D	0.000852	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-20.7813	16.7611	0.85512	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000210060:E218X	E	-	1	0	DHPS	12651297	1.000000	0.71417	0.907000	0.35723	0.963000	0.63663	7.375000	0.79646	2.546000	0.85860	0.563000	0.77884	GAG		0.537	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	NM_001930		224	976	1	0	5.46055e-65	1	6.90299e-65	224	976					A	12790297	C	A	12790297	4	1	79	1	0	0	0	0	0	1	0	0	4501	922	32	3	477	3	DHPS	19	12790297	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6229	12790297	46338686	18704	29021											
TNPO2	30000	broad.mit.edu	37	chr19	12812936	12812936	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacctcctgggggcacacGtagcccaagcggccgatggt	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12812936G>A	ENST00000592287.1	-	21	2469	c.2361C>T	c.(2359-2361)taC>taT	p.Y787Y	TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y|TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y|TNPO2_ENST00000425528.1_Silent_p.Y787Y	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	787					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGGCACACGTAGCCCAAGC	0.677																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2359-2361)taC>taT		transportin 2							36	45	42					19																	12812936		2158	4236	6394	SO:0001819	synonymous_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12812936G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2361C>T	19.37:g.12812936G>A						TNPO2_ENST00000592287.1_Silent_p.Y787Y|TNPO2_ENST00000441499.1_Silent_p.Y777Y|TNPO2_ENST00000450764.2_Silent_p.Y777Y|TNPO2_ENST00000356861.5_Silent_p.Y777Y|TNPO2_ENST00000588216.1_Silent_p.Y777Y	p.Y787Y			O14787	TNPO2_HUMAN			22	2718	-			787					O14655|Q6IN77	Silent	SNP	ENST00000592287.1	37	c.2361C>T	CCDS45991.1																																																																																				0.677	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		42	173	0	0	0	1	0	42	173					A	12812936	G	A	12812936	2	1	79	1	0	0	0	0	0	0	0	1	16388	1140	40	1		1	TNPO2	19	12812936	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22639	12812936	46316047	18705	29022											
C19orf43	79002	broad.mit.edu	37	chr19	12842217	12842217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagggctagtttgttccCgcctctgcgtttgcccacct	10	14	1	1	rs186539758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12842217C>T	ENST00000242784.4	-	2	481	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q|C19orf43_ENST00000592273.1_Intron	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	122										endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16684	0.001		0.0	False		,,,				2504	0.0					ENST00000242784.4																			0				endometrium(2)|large_intestine(2)	4						c.(364-366)Ggg>Agg		chromosome 19 open reading frame 43							151	123	133					19																	12842217		2203	4300	6503	SO:0001583	missense	79002							g.chr19:12842217C>T	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 18"					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.364G>A	19.37:g.12842217C>T	ENSP00000242784:p.Gly122Arg					C19orf43_ENST00000592273.1_Intron|C19orf43_ENST00000588213.1_Missense_Mutation_p.R114Q	p.G122R	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN			2	481	-			122						Missense_Mutation	SNP	ENST00000242784.4	37	c.364G>A	CCDS12279.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.1	4.799070	0.90538	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78591	0.4307	M	0.66297	2.02	0.37342	D	0.910419	D	0.89917	1.0	D	0.97110	1.0	T	0.82853	-0.0252	9	0.87932	D	0	-13.0597	18.0139	0.89232	0.0:1.0:0.0:0.0	.	122	Q9BQ61	CS043_HUMAN	R	122	.	ENSP00000242784:G122R	G	-	1	0	C19orf43	12703217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGG		0.597	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		67	305	0	0	0	1	0	67	305					T	12842217	C	T	12842217	3	4	79	1	0	0	0	0	1	0	0	0	1933	652	23	1	174	1	C19orf43	19	12842217	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29281	12842217	46286766	18706	29023											
BEST2	54831	broad.mit.edu	37	chr19	12863439	12863439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacagcccgagtggcgaaCgcccgcttcggtggcttctc	12	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12863439C>T	ENST00000549706.1	+	2	357	c.33C>T	c.(31-33)aaC>aaT	p.N11N	BEST2_ENST00000553030.1_Silent_p.N11N|BEST2_ENST00000042931.1_Silent_p.N11N			Q8NFU1	BEST2_HUMAN	bestrophin 2	11					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGTGGCGAACGCCCGCTTCG	0.652																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(31-33)aaC>aaT		bestrophin 2							51	54	53					19																	12863439		2102	4225	6327	SO:0001819	synonymous_variant	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12863439C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.33C>T	19.37:g.12863439C>T						BEST2_ENST00000553030.1_Silent_p.N11N|BEST2_ENST00000042931.1_Silent_p.N11N	p.N11N			Q8NFU1	BEST2_HUMAN			2	357	+			11					Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	c.33C>T	CCDS42506.1																																																																																				0.652	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		57	304	0	0	0	1	0	57	304					T	12863439	C	T	12863439	2	4	79	1	0	0	0	0	0	0	0	1	1406	535	19	1		1	BEST2	19	12863439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21222	12863439	46265544	18707	29024											
HOOK2	29911	broad.mit.edu	37	chr19	12874525	12874525	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgttctcggagctgtgtcCtcagggaatggagttctgga	14	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12874525C>A	ENST00000397668.3	-	21	1968	c.1895G>T	c.(1894-1896)aGg>aTg	p.R632M	HOOK2_ENST00000589965.1_5'Flank|HOOK2_ENST00000264827.5_Missense_Mutation_p.R630M	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	632	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAGCTGTGTCCTCAGGGAATG	0.597																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1888-1890)aGg>aTg		hook microtubule-tethering protein 2							74	83	80					19																	12874525		2194	4299	6493	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12874525C>A	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.1895G>T	19.37:g.12874525C>A	ENSP00000380785:p.Arg632Met					HOOK2_ENST00000397668.3_Missense_Mutation_p.R632M	p.R630M	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			20	2059	-			632			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1889G>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599770	0.46318	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.19250	2.16;2.16	5.72	3.61	0.41365	.	0.109028	0.64402	D	0.000010	T	0.27419	0.0673	M	0.65975	2.015	0.28849	N	0.896173	P;P	0.42203	0.731;0.773	B;P	0.44518	0.323;0.452	T	0.16988	-1.0384	10	0.87932	D	0	-23.7645	10.0714	0.42335	0.0:0.8369:0.0:0.1631	.	630;632	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	M	632;630	ENSP00000380785:R632M;ENSP00000264827:R630M	ENSP00000264827:R630M	R	-	2	0	HOOK2	12735525	1.000000	0.71417	0.963000	0.40424	0.124000	0.20399	1.053000	0.30442	1.424000	0.47217	0.650000	0.86243	AGG		0.597	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		93	388	1	0	2.62214e-60	1	3.29741e-60	93	388					A	12874525	C	A	12874525	3	1	79	1	0	0	0	0	1	0	0	0	7313	681	24	3	276	3	HOOK2	19	12874525	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11086	12874525	46254458	18708	29025											
HOOK2	29911	broad.mit.edu	37	chr19	12878833	12878833	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacctcagcctcacctccttCtcctttgtcaccgactcata	3	18	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12878833C>A	ENST00000397668.3	-	12	1282	c.1209G>T	c.(1207-1209)gaG>gaT	p.E403D	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.E403D	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	403	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						TCACCTCCTTCTCCTTTGTCA	0.587																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(1207-1209)gaG>gaT		hook microtubule-tethering protein 2							148	156	153					19																	12878833		2021	4155	6176	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12878833C>A	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.1209G>T	19.37:g.12878833C>A	ENSP00000380785:p.Glu403Asp					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.E403D	p.E403D	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			12	1379	-			403			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.1209G>T	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863320	0.71949	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.24151	1.87;1.87	5.07	4.03	0.46877	.	0.112392	0.64402	D	0.000016	T	0.46171	0.1379	M	0.78285	2.405	0.32263	N	0.569944	D;D	0.69078	0.996;0.997	P;D	0.65773	0.897;0.938	T	0.58255	-0.7668	10	0.66056	D	0.02	-17.6222	8.9768	0.35941	0.0:0.8361:0.0:0.1639	.	403;403	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	D	403	ENSP00000380785:E403D;ENSP00000264827:E403D	ENSP00000264827:E403D	E	-	3	2	HOOK2	12739833	0.983000	0.35010	1.000000	0.80357	0.886000	0.51366	0.224000	0.17738	2.363000	0.80096	0.456000	0.33151	GAG		0.587	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		18	1312	1	0	1.11149e-13	1	1.20163e-13	18	1312					A	12878833	C	A	12878833	3	1	79	1	0	0	0	0	1	0	0	0	7313	912	32	3	998	3	HOOK2	19	12878833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308	12878833	46250150	18709	29026											
HOOK2	29911	broad.mit.edu	37	chr19	12881839	12881839	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccgcaacctccctcTccagctcggcacagcgcagg	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12881839T>C	ENST00000397668.3	-	10	882	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000264827.5_Missense_Mutation_p.E270G	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	270	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						AACCTCCCTCTCCAGCTCGGC	0.667																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(808-810)gAg>gGg		hook microtubule-tethering protein 2							25	29	28					19																	12881839		2051	4182	6233	SO:0001583	missense	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12881839T>C	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.809A>G	19.37:g.12881839T>C	ENSP00000380785:p.Glu270Gly					HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.E270G	p.E270G	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN			10	979	-			270			Sufficient for interaction with microtubules.		O60562	Missense_Mutation	SNP	ENST00000397668.3	37	c.809A>G	CCDS42508.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.208267	0.79240	.	.	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.25414	1.8;1.8	4.8	4.8	0.61643	.	0.127143	0.50627	D	0.000108	T	0.49218	0.1544	M	0.85462	2.755	0.41274	D	0.98686	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.58940	-0.7547	10	0.87932	D	0	-19.5424	13.3357	0.60516	0.0:0.0:0.0:1.0	.	270;270	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	G	270	ENSP00000380785:E270G;ENSP00000264827:E270G	ENSP00000264827:E270G	E	-	2	0	HOOK2	12742839	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.687000	0.84139	1.804000	0.52760	0.373000	0.22412	GAG		0.667	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		22	135	0	0	0	1	0	22	135					C	12881839	T	C	12881839	3	2	79	1	0	0	0	0	1	0	0	0	7313	1551	54	4	1406	4	HOOK2	19	12881839	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3006	12881839	46247144	18710	29027											
JUNB	3726	broad.mit.edu	37	chr19	12903500	12903500	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgaagacgctcaaggcCgagaacgcggggctgtcgag	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12903500C>T	ENST00000302754.4	+	1	1191	c.915C>T	c.(913-915)gcC>gcT	p.A305A		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	305	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGCTCAAGGCCGAGAACGCGG	0.677																																						ENST00000302754.4																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						c.(913-915)gcC>gcT		jun B proto-oncogene							20	21	21					19																	12903500		2196	4294	6490	SO:0001819	synonymous_variant	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903500C>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.915C>T	19.37:g.12903500C>T							p.A305A	NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN			1	1191	+			305			Leucine-zipper.		Q96GH3	Silent	SNP	ENST00000302754.4	37	c.915C>T	CCDS12280.1																																																																																				0.677	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	NM_002229		4	34	0	0	0	1	0	4	34					T	12903500	C	T	12903500	2	4	79	1	0	0	0	0	0	0	0	1	8000	639	23	1		1	JUNB	19	12903500	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21661	12903500	46225483	18711	29028											
PRDX2	7001	broad.mit.edu	37	chr19	12910731	12910731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcagagcctcatccacGgagcgtcccacaggcaaatc	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12910731G>A	ENST00000301522.2	-	5	581	c.453C>T	c.(451-453)tcC>tcT	p.S151S	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	151	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTCATCCACGGAGCGTCCCA	0.552																																						ENST00000301522.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(451-453)tcC>tcT		peroxiredoxin 2							128	105	113					19																	12910731		2203	4300	6503	SO:0001819	synonymous_variant	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12910731G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.453C>T	19.37:g.12910731G>A						PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	p.S151S	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN			5	581	-			151			Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	37	c.453C>T	CCDS12281.1																																																																																				0.552	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809		9	373	0	0	0	1	0	9	373					A	12910731	G	A	12910731	2	1	79	1	0	0	0	0	0	0	0	1	12512	1103	39	1		1	PRDX2	19	12910731	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7231	12910731	46218252	18712	29029											
RNASEH2A	10535	broad.mit.edu	37	chr19	12924273	12924273	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggcctggagtcagcaaccaGcctctagcagctgcctctac	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12924273G>T	ENST00000221486.4	+	8	987	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	298					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						TCAGCAACCAGCCTCTAGCAG	0.532																																						ENST00000221486.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						c.(892-894)aGc>aTc		ribonuclease H2, subunit A							60	55	57					19																	12924273		2203	4300	6503	SO:0001583	missense	10535				DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding	g.chr19:12924273G>T	Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.893G>T	19.37:g.12924273G>T	ENSP00000221486:p.Ser298Ile						p.S298I	NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN			8	987	+			298					B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	c.893G>T	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	G	9.021	0.984866	0.18889	.	.	ENSG00000104889	ENST00000221486	D	0.82984	-1.67	4.06	-5.83	0.02325	.	1.265410	0.05450	N	0.549285	T	0.71736	0.3375	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.53878	-0.8376	10	0.39692	T	0.17	-2.3073	2.6883	0.05113	0.1069:0.1625:0.392:0.3386	.	298	O75792	RNH2A_HUMAN	I	298	ENSP00000221486:S298I	ENSP00000221486:S298I	S	+	2	0	RNASEH2A	12785273	0.000000	0.05858	0.017000	0.16124	0.800000	0.45204	-0.203000	0.09438	-0.960000	0.03613	-0.211000	0.12701	AGC		0.532	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		32	304	1	0	1.836e-18	1	2.03801e-18	32	304					T	12924273	G	T	12924273	3	4	79	1	0	0	0	0	1	0	0	0	13462	971	34	3	923	3	RNASEH2A	19	12924273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13542	12924273	46204710	18713	29030											
MAST1	22983	broad.mit.edu	37	chr19	12958425	12958425	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgggcttctctccccgcaGccccgggcgctccccctcct	9	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12958425G>T	ENST00000251472.4	+	6	527		c.e6-1		MAST1_ENST00000591495.1_Splice_Site	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						TCTCCCCGCAGCCCCGGGCGC	0.617											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.e6-1		microtubule associated serine/threonine kinase 1							39	43	42					19																	12958425		2203	4300	6503	SO:0001630	splice_region_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958425G>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.489-1G>T	19.37:g.12958425G>T			OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Splice_Site		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			6	527	+									Splice_Site	SNP	ENST00000251472.4	37		CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329179	0.81690	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	.	.	.	4.66	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.227	0.54465	0.0:0.0:0.8282:0.1718	.	.	.	.	.	-1	.	.	.	+	.	.	MAST1	12819425	1.000000	0.71417	0.979000	0.43373	0.827000	0.46813	9.693000	0.98684	1.083000	0.41159	0.491000	0.48974	.		0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	Intron	38	280	1	0	4.32679e-17	1	4.76816e-17	38	280					T	12958425	G	T	12958425	5	4	79	1	0	0	0	0	0	0	1	0	9365	985	34	3	510	3	MAST1	19	12958425	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34152	12958425	46170558	18714	29031											
MAST1	22983	broad.mit.edu	37	chr19	12963203	12963203	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acccctgagcaagacgatctCtctgaggtaaggctgggtgg	14	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12963203C>T	ENST00000251472.4	+	10	1110	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MAST1_ENST00000591495.1_Silent_p.L353L	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						AAGACGATCTCTCTGAGGTAA	0.592																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1069-1071)ctC>ctT		microtubule associated serine/threonine kinase 1							91	72	78					19																	12963203		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12963203C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1071C>T	19.37:g.12963203C>T						MAST1_ENST00000591495.1_Silent_p.L353L	p.L357L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			10	1110	+			357						Silent	SNP	ENST00000251472.4	37	c.1071C>T	CCDS32921.1																																																																																				0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		53	271	0	0	0	1	0	53	271					T	12963203	C	T	12963203	2	4	79	1	0	0	0	0	0	0	0	1	9365	900	32	2		2	MAST1	19	12963203	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4778	12963203	46165780	18715	29032											
MAST1	22983	broad.mit.edu	37	chr19	12976850	12976850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagacctggactggacagggCtgctgaggcagaaggccgag	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12976850C>T	ENST00000251472.4	+	17	2002	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		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						CTGGACAGGGCTGCTGAGGCA	0.592																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1963-1965)Ctg>Ttg		microtubule associated serine/threonine kinase 1							65	59	61					19																	12976850		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12976850C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1963C>T	19.37:g.12976850C>T							p.L655L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			17	2002	+			655			AGC-kinase C-terminal.			Silent	SNP	ENST00000251472.4	37	c.1963C>T	CCDS32921.1																																																																																				0.592	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		10	267	0	0	0	1	0	10	267					T	12976850	C	T	12976850	2	4	79	1	0	0	0	0	0	0	0	1	9365	796	28	2		2	MAST1	19	12976850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13647	12976850	46152133	18716	29033											
MAST1	22983	broad.mit.edu	37	chr19	12977513	12977513	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcctatgacgaggatgaCacgacggaggaggagcccgt	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12977513C>T	ENST00000251472.4	+	18	2115	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D		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						ACGAGGATGACACGACGGAGG	0.617																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2074-2076)gaC>gaT		microtubule associated serine/threonine kinase 1							78	56	63					19																	12977513		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12977513C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2076C>T	19.37:g.12977513C>T							p.D692D	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			18	2115	+			692			AGC-kinase C-terminal.			Silent	SNP	ENST00000251472.4	37	c.2076C>T	CCDS32921.1																																																																																				0.617	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		20	150	0	0	0	1	0	20	150					T	12977513	C	T	12977513	2	4	79	1	0	0	0	0	0	0	0	1	9365	477	17	2		2	MAST1	19	12977513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663	12977513	46151470	18717	29034											
GCDH	2639	broad.mit.edu	37	chr19	13004378	13004378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtggacagtggctacaggtCggcgatgagtgtccagtcct	16	9	0	1	rs139851890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13004378C>T	ENST00000222214.5	+	6	627	c.416C>T	c.(415-417)tCg>tTg	p.S139L	GCDH_ENST00000422947.2_Missense_Mutation_p.S95L|GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	139	Substrate binding.		S -> L (in GA1).		cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GGCTACAGGTCGGCGATGAGT	0.622																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19	GRCh37	CM980855	GCDH	M	rs139851890	c.(415-417)tCg>tTg		glutaryl-CoA dehydrogenase		C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	130	98	109		416,416	5.2	1	19	dbSNP_134	109	0,8600		0,0,4300	no	missense,missense	GCDH	NM_000159.2,NM_013976.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	139/439,139/429	13004378	1,13005	2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13004378C>T	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.416C>T	19.37:g.13004378C>T	ENSP00000222214:p.Ser139Leu					GCDH_ENST00000422947.2_Missense_Mutation_p.S95L|GCDH_ENST00000457854.1_Missense_Mutation_p.S139L|GCDH_ENST00000591470.1_Missense_Mutation_p.S139L	p.S139L			Q92947	GCDH_HUMAN			6	627	+			139		S -> L (in GA1).	Substrate binding.		A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.416C>T	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491649	0.96339	2.27E-4	0.0	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99652	-6.3;-6.3;-6.3	5.19	5.19	0.71726	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	0.99597	0.9854	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.985;1.0;1.0	D	0.98006	1.0363	10	0.87932	D	0	.	16.567	0.84601	0.0:1.0:0.0:0.0	.	95;106;139;139	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	L	139;139;106;95	ENSP00000394872:S139L;ENSP00000222214:S139L;ENSP00000394821:S95L	ENSP00000222214:S139L	S	+	2	0	GCDH	12865378	1.000000	0.71417	0.954000	0.39281	0.989000	0.77384	7.247000	0.78257	2.584000	0.87258	0.563000	0.77884	TCG		0.622	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			49	414	0	0	0	1	0	49	414					T	13004378	C	T	13004378	3	4	79	1	0	0	0	0	1	0	0	0	6315	893	31	1	434	1	GCDH	19	13004378	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26865	13004378	46124605	18718	29035											
GCDH	2639	broad.mit.edu	37	chr19	13008537	13008537	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctgcccccgagatggtttCtctgctgaagaggaataact	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13008537C>A	ENST00000222214.5	+	11	1314	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y|GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	368					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAGATGGTTTCTCTGCTGAAG	0.602																																					GBM(123;875 1636 7726 16444 26754)	ENST00000222214.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						c.(1102-1104)tCt>tAt		glutaryl-CoA dehydrogenase							122	131	128					19																	13008537		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13008537C>A	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1103C>A	19.37:g.13008537C>A	ENSP00000222214:p.Ser368Tyr					GCDH_ENST00000422947.2_Missense_Mutation_p.S324Y|GCDH_ENST00000457854.1_Missense_Mutation_p.S368Y|GCDH_ENST00000591470.1_Missense_Mutation_p.S368Y	p.S368Y			Q92947	GCDH_HUMAN			11	1314	+			368					A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.1103C>A	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334551	0.81801	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.96967	-4.19;-4.19;-4.19	5.6	5.6	0.85130	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.99794	4.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98591	1.0654	10	0.87932	D	0	.	17.0969	0.86637	0.0:1.0:0.0:0.0	.	324;204;368;368	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	Y	368;368;324	ENSP00000394872:S368Y;ENSP00000222214:S368Y;ENSP00000394821:S324Y	ENSP00000222214:S368Y	S	+	2	0	GCDH	12869537	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	7.420000	0.80191	2.644000	0.89710	0.655000	0.94253	TCT		0.602	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			225	951	1	0	4.5173e-83	1	5.78256e-83	225	951					A	13008537	C	A	13008537	3	1	79	1	0	0	0	0	1	0	0	0	6315	913	32	3	1141	3	GCDH	19	13008537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4159	13008537	46120446	18719	29036											
SYCE2	256126	broad.mit.edu	37	chr19	13015452	13015452	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagagtcccgacttccCttccaggaccgtcagctggc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13015452C>A	ENST00000293695.7	-	3	178	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	54					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCGACTTCCCTTCCAGGACC	0.547																																						ENST00000293695.7																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						c.(160-162)Ggg>Tgg		synaptonemal complex central element protein 2							138	141	140					19																	13015452		2157	4274	6431	SO:0001583	missense	256126				cell division	central element		g.chr19:13015452C>A	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.160G>T	19.37:g.13015452C>A	ENSP00000293695:p.Gly54Trp					SYCE2_ENST00000591229.1_5'UTR	p.G54W	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN			3	178	-			54					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.160G>T	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229193	0.58777	.	.	ENSG00000161860	ENST00000293695	.	.	.	4.55	4.55	0.56014	.	0.566735	0.15904	N	0.238906	T	0.53932	0.1827	L	0.36672	1.1	0.28317	N	0.922397	D	0.89917	1.0	D	0.97110	1.0	T	0.48317	-0.9046	9	0.87932	D	0	0.0377	12.6762	0.56895	0.0:1.0:0.0:0.0	.	54	Q6PIF2	SYCE2_HUMAN	W	54	.	ENSP00000293695:G54W	G	-	1	0	SYCE2	12876452	0.984000	0.35163	0.999000	0.59377	0.764000	0.43329	1.881000	0.39638	2.353000	0.79882	0.462000	0.41574	GGG		0.547	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		24	696	1	0	1.1804e-14	1	1.28451e-14	24	696					A	13015452	C	A	13015452	3	1	79	1	0	0	0	0	1	0	0	0	15481	681	24	3	512	3	SYCE2	19	13015452	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6915	13015452	46113531	18720	29037											
CALR	811	broad.mit.edu	37	chr19	13054419	13054419	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatacgctgaggagtttggCaacgagacgtggggcgtaac	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13054419C>T	ENST00000316448.5	+	8	1102	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000592268.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000541222.1_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	343	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	AGGAGTTTGGCAACGAGACGT	0.592																																						ENST00000316448.5																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10						c.(1027-1029)ggC>ggT		calreticulin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						155	121	133					19																	13054419		2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13054419C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1029C>T	19.37:g.13054419C>T							p.G343G	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN			8	1102	+			343			C-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.1029C>T	CCDS12288.1																																																																																				0.592	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		47	253	0	0	0	1	0	47	253					T	13054419	C	T	13054419	2	4	79	1	0	0	0	0	0	0	0	1	2599	697	25	2		2	CALR	19	13054419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38967	13054419	46074564	18721	29038											
RAD23A	5886	broad.mit.edu	37	chr19	13059574	13059574	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgagagcgggtcgtggccGccctgagagccagctacaac	15	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13059574G>A	ENST00000586534.1	+	5	608	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T|RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	183	UBA 1. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTCGTGGCCGCCCTGAGAGC	0.632								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(547-549)Gcc>Acc	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)							92	96	95					19																	13059574		2203	4300	6503	SO:0001583	missense	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059574G>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"RAD23, yeast homolog, A"	600061	"RAD23 (S. cerevisiae) homolog A"			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.547G>A	19.37:g.13059574G>A	ENSP00000467024:p.Ala183Thr					RAD23A_ENST00000592268.1_Missense_Mutation_p.A183T|RAD23A_ENST00000541222.1_Missense_Mutation_p.A18T|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.A183T	p.A183T			P54725	RD23A_HUMAN			5	608	+			183			UBA 1.		K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	c.547G>A	CCDS12289.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032357	0.93575	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T;T	0.64618	-0.11;-0.11	4.61	4.61	0.57282	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.99;0.996	D	0.91040	0.4870	10	0.72032	D	0.01	-43.2666	16.2132	0.82185	0.0:0.0:1.0:0.0	.	183;200;183	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	T	183;18	ENSP00000321365:A183T;ENSP00000438741:A18T	ENSP00000321365:A183T	A	+	1	0	RAD23A	12920574	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.974000	0.93433	2.110000	0.64415	0.561000	0.74099	GCC		0.632	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		189	827	0	0	0	1	0	189	827					A	13059574	G	A	13059574	3	1	79	1	0	0	0	0	1	0	0	0	13032	1087	38	1	565	1	RAD23A	19	13059574	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5155	13059574	46069409	18722	29039											
NFIX	4784	broad.mit.edu	37	chr19	13192511	13192511	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggagcccccgggccacaGcatcagccctgcacttcccc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13192511G>T	ENST00000592199.1	+	8	1096	c.1096G>T	c.(1096-1098)Gca>Tca	p.A366S	NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000358552.3_Missense_Mutation_p.A324S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S|NFIX_ENST00000588228.1_Missense_Mutation_p.A319S|NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	366					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)			CCGGGCCACAGCATCAGCCCT	0.662																																						ENST00000358552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11						c.(970-972)Gca>Tca		nuclear factor I/X (CCAAT-binding transcription factor)							48	58	55					19																	13192511		2151	4246	6397	SO:0001583	missense	4784				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:13192511G>T	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.1096G>T	19.37:g.13192511G>T	ENSP00000467512:p.Ala366Ser					NFIX_ENST00000588228.1_Missense_Mutation_p.A319S|NFIX_ENST00000587260.1_Missense_Mutation_p.A365S|NFIX_ENST00000397661.2_Missense_Mutation_p.A366S|NFIX_ENST00000585575.1_Missense_Mutation_p.A358S|NFIX_ENST00000587760.1_Missense_Mutation_p.A358S|NFIX_ENST00000592199.1_Missense_Mutation_p.A366S|NFIX_ENST00000360105.4_Missense_Mutation_p.A328S	p.A324S			Q14938	NFIX_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)		6	970	+			366					B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37	c.970G>T		.	.	.	.	.	.	.	.	.	.	G	14.63	2.592520	0.46214	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.41758	0.99;0.99	5.8	5.8	0.92144	.	0.053036	0.85682	D	0.000000	T	0.56863	0.2014	L	0.52364	1.645	0.51233	D	0.999917	D;D;D;D;D	0.89917	1.0;0.999;0.996;1.0;0.999	D;D;D;D;D	0.87578	0.998;0.994;0.987;0.998;0.994	T	0.44452	-0.9327	10	0.07482	T	0.82	.	18.8323	0.92145	0.0:0.0:1.0:0.0	.	374;365;328;366;366	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	S	366;366;328;324	ENSP00000380781:A366S;ENSP00000351354:A324S	ENSP00000264825:A328S	A	+	1	0	NFIX	13053511	1.000000	0.71417	0.448000	0.26945	0.969000	0.65631	4.895000	0.63214	2.755000	0.94549	0.655000	0.94253	GCA		0.662	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1	NM_002501		40	210	1	0	1.07121e-22	1	1.21384e-22	40	210					T	13192511	G	T	13192511	3	4	79	1	0	0	0	0	1	0	0	0	10416	971	34	3	1126	3	NFIX	19	13192511	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132937	13192511	45936472	18723	29040											
NACC1	112939	broad.mit.edu	37	chr19	13246051	13246051	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acactgcagatggagatcccGaacttcggcaacagcatcct	9	13	0	2	rs376533294		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246051G>A	ENST00000292431.4	+	2	156	c.30G>A	c.(28-30)ccG>ccA	p.P10P	AC005546.2_ENST00000591837.1_lincRNA	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	10					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGAGATCCCGAACTTCGGCA	0.622																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(28-30)ccG>ccA		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							44	39	41					19																	13246051		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246051G>A	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.30G>A	19.37:g.13246051G>A							p.P10P	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	156	+			10						Silent	SNP	ENST00000292431.4	37	c.30G>A	CCDS12294.1																																																																																				0.622	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		40	188	0	0	0	1	0	40	188					A	13246051	G	A	13246051	2	1	79	1	0	0	0	0	0	0	0	1	10176	1045	37	1		1	NACC1	19	13246051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53540	13246051	45882932	18724	29041											
NACC1	112939	broad.mit.edu	37	chr19	13246249	13246249	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggctgtgcagccccaGtctttccagcagatcctcag	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246249G>T	ENST00000292431.4	+	2	354	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	76	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCAGCCCCAGTCTTTCCAGC	0.647																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(226-228)caG>caT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							34	35	35					19																	13246249		2203	4300	6503	SO:0001583	missense	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246249G>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.228G>T	19.37:g.13246249G>T	ENSP00000292431:p.Gln76His						p.Q76H	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	354	+			76			BTB.			Missense_Mutation	SNP	ENST00000292431.4	37	c.228G>T	CCDS12294.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919900	0.52653	.	.	ENSG00000160877	ENST00000292431	T	0.67698	-0.28	5.05	4.01	0.46588	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	L	0.31207	0.915	0.42308	D	0.992207	D	0.76494	0.999	D	0.70716	0.97	T	0.70887	-0.4750	10	0.51188	T	0.08	.	11.2422	0.48977	0.0898:0.0:0.9102:0.0	.	76	Q96RE7	NACC1_HUMAN	H	76	ENSP00000292431:Q76H	ENSP00000292431:Q76H	Q	+	3	2	NACC1	13107249	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	1.681000	0.37618	1.129000	0.42072	0.650000	0.86243	CAG		0.647	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		72	271	1	0	3.31162e-33	1	3.92088e-33	72	271					T	13246249	G	T	13246249	3	4	79	1	0	0	0	0	1	0	0	0	10176	1020	36	3	230	3	NACC1	19	13246249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198	13246249	45882734	18725	29042											
NACC1	112939	broad.mit.edu	37	chr19	13246954	13246954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgtacagcatgatgaaCgtcggccagacaggtgaggt	13	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246954C>T	ENST00000292431.4	+	2	1059	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	311					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCATGATGAACGTCGGCCAGA	0.617																																						ENST00000292431.4																			0				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						c.(931-933)aaC>aaT		nucleus accumbens associated 1, BEN and BTB (POZ) domain containing							138	119	125					19																	13246954		2203	4300	6503	SO:0001819	synonymous_variant	112939				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body		g.chr19:13246954C>T	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.933C>T	19.37:g.13246954C>T							p.N311N	NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN			2	1059	+			311						Silent	SNP	ENST00000292431.4	37	c.933C>T	CCDS12294.1																																																																																				0.617	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452879.1	NM_052876		38	192	0	0	0	1	0	38	192					T	13246954	C	T	13246954	2	4	79	1	0	0	0	0	0	0	0	1	10176	535	19	1		1	NACC1	19	13246954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	705	13246954	45882029	18726	29043											
STX10	8677	broad.mit.edu	37	chr19	13256126	13256126	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtgtggcctgctgctcctcGatgtagcgagatgtggccga	15	10	0	1	rs201520323		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13256126G>A	ENST00000587230.1	-	5	511	c.447C>T	c.(445-447)atC>atT	p.I149I	STX10_ENST00000589083.1_Silent_p.I149I|STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000242770.5_Silent_p.I149I	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	149					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)			GCTGCTCCTCGATGTAGCGAG	0.617																																						ENST00000589083.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6						c.(445-447)atC>atT		syntaxin 10							51	47	48					19																	13256126		2203	4300	6503	SO:0001819	synonymous_variant	8677				Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity	g.chr19:13256126G>A	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.447C>T	19.37:g.13256126G>A						STX10_ENST00000343587.5_Silent_p.I100I|STX10_ENST00000242770.5_Silent_p.I149I|STX10_ENST00000587230.1_Silent_p.I149I	p.I149I	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		5	499	-			149					A6NC41|Q6IAP4|Q96AE8	Silent	SNP	ENST00000587230.1	37	c.447C>T	CCDS32922.1																																																																																				0.617	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452918.1	NM_003765		37	153	0	0	0	1	0	37	153					A	13256126	G	A	13256126	2	1	79	1	0	0	0	0	0	0	0	1	15388	1048	37	1		1	STX10	19	13256126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9172	13256126	45872857	18727	29044											
CACNA1A	773	broad.mit.edu	37	chr19	13325114	13325114	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtactccatgatcatcatgGctgcgtagatcttccccacg	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13325114G>T	ENST00000360228.5	-	40	5872	c.5873C>A	c.(5872-5874)gCc>gAc	p.A1958D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	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	1959					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)	GATCATCATGGCTGCGTAGAT	0.642																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5872-5874)gCc>gAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						37	41	40					19																	13325114		2169	4272	6441	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13325114G>T	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.5873C>A	19.37:g.13325114G>T	ENSP00000353362:p.Ala1958Asp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1959D	p.A1958D	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		40	5872	-			1959					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5873C>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562411	0.65538	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.72394	-0.65	4.72	4.72	0.59763	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.64402	D	0.000001	D	0.83211	0.5205	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	D	0.85729	0.1330	10	0.87932	D	0	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	1959;1964;1958;1959	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	D	1958;1964;1959;1959	ENSP00000353362:A1958D	ENSP00000317661:A1959D	A	-	2	0	CACNA1A	13186114	1.000000	0.71417	0.989000	0.46669	0.868000	0.49771	9.353000	0.97080	2.184000	0.69523	0.491000	0.48974	GCC		0.642	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		17	116	1	0	1.00905e-13	1	1.09121e-13	17	116					T	13325114	G	T	13325114	3	4	79	1	0	0	0	0	1	0	0	0	2545	1203	42	3	1679	3	CACNA1A	19	13325114	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68988	13325114	45803869	18728	29045											
CACNA1A	773	broad.mit.edu	37	chr19	13345818	13345818	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatcactgtcctcGtcctccacgtcgatgccaat	5	16	4	0	rs200501726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13345818G>A	ENST00000360228.5	-	34	5165	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.D1723D	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	1723					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)	CACTGTCCTCGTCCTCCACGT	0.542											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5164-5166)gaC>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	,,,,	0,4136		0,0,2068	161	166	164		5184,5169,5166,5175,5184	-10	0.7	19		164	1,8383		0,1,4191	yes	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6259	AA,AG,GG		0.0119,0.0,0.0080	,,,,	1728/2267,1723/2262,1722/2507,1725/2264,1728/2513	13345818	1,12519	2068	4192	6260	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13345818G>A	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.5166C>T	19.37:g.13345818G>A			OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_ENST00000573710.2_Silent_p.D1723D|CACNA1A_ENST00000574822.1_5'UTR	p.D1722D	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		34	5165	-			1723					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.5166C>T	CCDS45998.1																																																																																				0.542	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		123	514	0	0	0	1	0	123	514					A	13345818	G	A	13345818	2	1	79	1	0	0	0	0	0	0	0	1	2545	1136	40	1		1	CACNA1A	19	13345818	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20704	13345818	45783165	18729	29046											
CACNA1A	773	broad.mit.edu	37	chr19	13356068	13356068	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagatgttccaggcatcGcggaaataattctagaatgg	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13356068G>A	ENST00000360228.5	-	31	4877	c.4878C>T	c.(4876-4878)cgC>cgT	p.R1626R	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Silent_p.R1627R	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	1627					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)	TCCAGGCATCGCGGAAATAAT	0.552																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4876-4878)cgC>cgT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						80	79	80					19																	13356068		1946	4136	6082	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13356068G>A	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.4878C>T	19.37:g.13356068G>A						CACNA1A_ENST00000573710.2_Silent_p.R1627R|CACNA1A_ENST00000574822.1_5'UTR	p.R1626R	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		31	4877	-			1627					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.4878C>T	CCDS45998.1																																																																																				0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		39	235	0	0	0	1	0	39	235					A	13356068	G	A	13356068	2	1	79	1	0	0	0	0	0	0	0	1	2545	1074	38	1		1	CACNA1A	19	13356068	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10250	13356068	45772915	18730	29047											
CACNA1A	773	broad.mit.edu	37	chr19	13370400	13370400	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccagccttctcccgtggAcacggtgaagagggtcagca	14	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13370400A>G	ENST00000360228.5	-	27	4365	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	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	1457			V -> L (in FHM1; dbSNP:rs121908237). {ECO:0000269|PubMed:10408532}.		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)	TCTCCCGTGGACACGGTGAAG	0.552																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4366-4368)Tcc>Ccc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						42	44	43					19																	13370400		1953	4136	6089	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13370400A>G	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.4366T>C	19.37:g.13370400A>G	ENSP00000353362:p.Ser1456Pro					CACNA1A_ENST00000573710.2_Missense_Mutation_p.S1457P	p.S1456P	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		27	4365	-			1457		V -> L (in FHM1; dbSNP:rs121908237).			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4366T>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510055	0.64522	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.98531	-4.98	4.88	4.88	0.63580	Ion transport (1);	0.137604	0.49916	D	0.000130	D	0.99102	0.9691	M	0.92604	3.325	0.58432	D	0.999997	P;P;D	0.89917	0.883;0.928;1.0	P;P;D	0.91635	0.747;0.703;0.999	D	0.99414	1.0931	10	0.72032	D	0.01	.	13.5025	0.61465	1.0:0.0:0.0:0.0	.	1457;1460;1456	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	P	1456;1460;1457;1457;73	ENSP00000353362:S1456P	ENSP00000317661:S1457P	S	-	1	0	CACNA1A	13231400	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.337000	0.96545	1.838000	0.53458	0.459000	0.35465	TCC		0.552	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		15	49	0	0	0	1	0	15	49					G	13370400	A	G	13370400	3	3	79	1	0	0	0	0	1	0	0	0	2545	275	10	4	3340	4	CACNA1A	19	13370400	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14332	13370400	45758583	18731	29048											
CACNA1A	773	broad.mit.edu	37	chr19	13410018	13410018	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgtctggccgcaggTgccgcgtgtaggcagccttc	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13410018T>C	ENST00000360228.5	-	19	2428	c.2429A>G	c.(2428-2430)cAc>cGc	p.H810R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	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	811					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)	TGGCCGCAGGTGCCGCGTGTA	0.647																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2428-2430)cAc>cGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						44	52	49					19																	13410018		2028	4151	6179	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13410018T>C	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.2429A>G	19.37:g.13410018T>C	ENSP00000353362:p.His810Arg					CACNA1A_ENST00000573710.2_Missense_Mutation_p.H811R	p.H810R	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2428	-			811					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2429A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	3.288	-0.145636	0.06627	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	3.86	1.48	0.22813	.	3.771970	0.00960	N	0.003099	D	0.90621	0.7059	N	0.25485	0.75	0.22354	N	0.99917	B;P;P	0.38335	0.012;0.467;0.627	B;B;B	0.32022	0.007;0.132;0.139	T	0.82343	-0.0504	10	0.22706	T	0.39	.	9.1483	0.36946	0.0:0.0:0.4829:0.5171	.	811;814;810	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	R	810;814;811;811	ENSP00000353362:H810R	ENSP00000317661:H811R	H	-	2	0	CACNA1A	13271018	0.042000	0.20092	0.850000	0.33497	0.067000	0.16453	0.422000	0.21296	0.052000	0.16007	0.374000	0.22700	CAC		0.647	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		58	312	0	0	0	1	0	58	312					C	13410018	T	C	13410018	3	2	79	1	0	0	0	0	1	0	0	0	2545	1696	59	4	5309	4	CACNA1A	19	13410018	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39618	13410018	45718965	18732	29049											
CACNA1A	773	broad.mit.edu	37	chr19	13419063	13419063	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctgagagatgcccagTacctgccgacagaggccagg	14	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13419063T>C	ENST00000360228.5	-	14	1783	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	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	596					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)	AGATGCCCAGTACCTGCCGAC	0.582																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1783-1785)tAc>tGc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						55	59	58					19																	13419063		2112	4244	6356	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13419063T>C	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.1784A>G	19.37:g.13419063T>C	ENSP00000353362:p.Tyr595Cys					CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y596C	p.Y595C	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		14	1783	-			596					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1784A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221312	0.58560	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98531	-4.98	5.12	5.12	0.69794	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99121	0.9697	M	0.92555	3.32	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.99402	1.0928	10	0.87932	D	0	.	13.9098	0.63860	0.0:0.0:0.0:1.0	.	596;596;595	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	595;596;596;596	ENSP00000353362:Y595C	ENSP00000317661:Y596C	Y	-	2	0	CACNA1A	13280063	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	1.923000	0.55706	0.533000	0.62120	TAC		0.582	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		23	109	0	0	0	1	0	23	109					C	13419063	T	C	13419063	3	2	79	1	0	0	0	0	1	0	0	0	2545	1638	57	4	5983	4	CACNA1A	19	13419063	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9045	13419063	45709920	18733	29050											
CACNA1A	773	broad.mit.edu	37	chr19	13428040	13428040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgagttttgaccatgcGgcggatgtagaaacgcatcc	13	10	0	3	rs377011125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13428040G>A	ENST00000360228.5	-	11	1440	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	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	482					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.R482C(3)		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)	TTGACCATGCGGCGGATGTAG	0.512																																						ENST00000360228.5																			3	Substitution - Missense(3)	p.R482C(3)	endometrium(3)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1441-1443)Cgc>Tgc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3990		0,0,1995	73	76	75		1444,1444,1441,1444,1444	4.7	1	19		75	1,8317		0,1,4158	no	missense,missense,missense,missense,missense	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	180,180,180,180,180	0,1,6153	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	482/2267,482/2262,481/2507,482/2264,482/2513	13428040	1,12307	1995	4159	6154	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13428040G>A	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.1441C>T	19.37:g.13428040G>A	ENSP00000353362:p.Arg481Cys					CACNA1A_ENST00000573710.2_Missense_Mutation_p.R482C	p.R481C	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		11	1440	-			482					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.1441C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347420	0.41599	0.0	1.2E-4	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96365	-3.99	5.76	4.73	0.59995	.	0.218239	0.39274	N	0.001415	D	0.98277	0.9429	M	0.89785	3.06	0.47949	D	0.999551	B;D;B	0.89917	0.246;1.0;0.246	B;D;B	0.85130	0.008;0.997;0.008	D	0.99066	1.0832	10	0.72032	D	0.01	.	13.7078	0.62651	0.0752:0.0:0.9248:0.0	.	482;482;481	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	C	481;482;482;482	ENSP00000353362:R481C	ENSP00000317661:R482C	R	-	1	0	CACNA1A	13289040	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	5.782000	0.68973	1.437000	0.47472	-0.136000	0.14681	CGC		0.512	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		21	92	0	0	0	1	0	21	92					A	13428040	G	A	13428040	3	1	79	1	0	0	0	0	1	0	0	0	2545	1116	39	1	6338	1	CACNA1A	19	13428040	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8977	13428040	45700943	18734	29051											
CCDC130	81576	broad.mit.edu	37	chr19	13869941	13869941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagcagaagctggagaCggacgccatgttccggctgg	16	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13869941C>T	ENST00000586600.1	+	9	931	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M			P13994	CC130_HUMAN	coiled-coil domain containing 130	143					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)			AAGCTGGAGACGGACGCCATG	0.662																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(427-429)aCg>aTg		coiled-coil domain containing 130							29	29	29					19																	13869941		2202	4298	6500	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13869941C>T	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.428C>T	19.37:g.13869941C>T	ENSP00000465776:p.Thr143Met					CCDC130_ENST00000221554.8_Missense_Mutation_p.T143M|CCDC130_ENST00000587019.1_3'UTR	p.T143M			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		9	931	+			143					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.428C>T	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163654	0.57476	.	.	ENSG00000104957	ENST00000221554	T	0.30714	1.52	5.27	3.15	0.36227	.	0.144833	0.64402	N	0.000009	T	0.24774	0.0601	L	0.48174	1.505	0.80722	D	1	P;P	0.39003	0.502;0.654	B;B	0.35770	0.21;0.21	T	0.02603	-1.1135	10	0.46703	T	0.11	-11.8772	9.6341	0.39798	0.0:0.8283:0.0:0.1717	.	143;143	B3KUZ1;P13994	.;CC130_HUMAN	M	143	ENSP00000221554:T143M	ENSP00000221554:T143M	T	+	2	0	CCDC130	13730941	0.999000	0.42202	0.609000	0.28983	0.993000	0.82548	4.152000	0.58111	0.625000	0.30304	0.561000	0.74099	ACG		0.662	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		25	138	0	0	0	1	0	25	138					T	13869941	C	T	13869941	3	4	79	1	0	0	0	0	1	0	0	0	2773	536	19	1	454	1	CCDC130	19	13869941	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441901	13869941	45259042	18735	29052											
ZSWIM4	65249	broad.mit.edu	37	chr19	13936465	13936465	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggacgcctgcaagacagccAccccggtcagcgccccacca	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13936465A>G	ENST00000254323.2	+	11	2155	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	656							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)			CAAGACAGCCACCCCGGTCAG	0.667																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1966-1968)Acc>Gcc		zinc finger, SWIM-type containing 4							47	50	49					19																	13936465		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13936465A>G	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.1966A>G	19.37:g.13936465A>G	ENSP00000254323:p.Thr656Ala					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.T490A	p.T656A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		11	2155	+			656						Missense_Mutation	SNP	ENST00000254323.2	37	c.1966A>G	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670200	0.47677	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.48522	0.81;0.81	4.23	3.05	0.35203	.	0.000000	0.52532	D	0.000074	T	0.47469	0.1447	M	0.71206	2.165	0.39259	D	0.964173	B;B	0.30563	0.015;0.285	B;B	0.36186	0.016;0.219	T	0.48151	-0.9060	10	0.56958	D	0.05	-21.304	7.6829	0.28524	0.8831:0.0:0.1169:0.0	.	490;656	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	656;490	ENSP00000254323:T656A;ENSP00000405278:T490A	ENSP00000254323:T656A	T	+	1	0	ZSWIM4	13797465	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	5.719000	0.68462	0.520000	0.28426	0.482000	0.46254	ACC		0.667	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		92	359	0	0	0	1	0	92	359					G	13936465	A	G	13936465	3	3	79	1	0	0	0	0	1	0	0	0	18296	159	6	4	2008	4	ZSWIM4	19	13936465	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66524	13936465	45192518	18736	29053											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941765	13941765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccttcctgctggcgccCgacgggcacctccagttctc	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13941765C>T	ENST00000254323.2	+	13	3060	c.2871C>T	c.(2869-2871)ccC>ccT	p.P957P	ZSWIM4_ENST00000440752.2_Silent_p.P791P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	957							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)			TGCTGGCGCCCGACGGGCACC	0.582																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2869-2871)ccC>ccT		zinc finger, SWIM-type containing 4							40	41	41					19																	13941765		2203	4300	6503	SO:0001819	synonymous_variant	65249						zinc ion binding	g.chr19:13941765C>T	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.2871C>T	19.37:g.13941765C>T						ZSWIM4_ENST00000440752.2_Silent_p.P791P	p.P957P	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	3060	+			957						Silent	SNP	ENST00000254323.2	37	c.2871C>T	CCDS32924.1																																																																																				0.582	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		9	447	0	0	0	1	0	9	447					T	13941765	C	T	13941765	2	4	79	1	0	0	0	0	0	0	0	1	18296	639	23	1		1	ZSWIM4	19	13941765	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5300	13941765	45187218	18737	29054											
NANOS3	342977	broad.mit.edu	37	chr19	13988311	13988311	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctctttctgcaaacacaaCggcgagtcccgggccatcta	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13988311C>T	ENST00000397555.2	+	2	192	c.192C>T	c.(190-192)aaC>aaT	p.N64N	NANOS3_ENST00000591727.1_Intron|MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Silent_p.N83N	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	64					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)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCAAACACAACGGCGAGTCCC	0.662																																						ENST00000397555.2																			0				breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(190-192)aaC>aaT		nanos homolog 3 (Drosophila)							46	55	52					19																	13988311		2191	4288	6479	SO:0001819	synonymous_variant	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988311C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.192C>T	19.37:g.13988311C>T						NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Silent_p.N83N	p.N64N	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	192	+			64					Q495E5	Silent	SNP	ENST00000397555.2	37	c.192C>T																																																																																					0.662	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		51	273	0	0	0	1	0	51	273					T	13988311	C	T	13988311	2	4	79	1	0	0	0	0	0	0	0	1	10194	535	19	1		1	NANOS3	19	13988311	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46546	13988311	45140672	18738	29055											
C19orf57	79173	broad.mit.edu	37	chr19	14000527	14000527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcctggcaaggccctcCtgtggcctccatcagcggcc	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14000527C>A	ENST00000586783.1	-	5	1141	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M|C19orf57_ENST00000454313.1_Missense_Mutation_p.R381M			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	381					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)			CAAGGCCCTCCTGTGGCCTCC	0.667																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1141-1143)aGg>aTg		chromosome 19 open reading frame 57							26	24	25					19																	14000527		2203	4296	6499	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000527C>A	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.1142G>T	19.37:g.14000527C>A	ENSP00000465822:p.Arg381Met					C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.R381M|C19orf57_ENST00000346736.2_Missense_Mutation_p.R381M	p.R381M			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1200	-			381					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1142G>T		.	.	.	.	.	.	.	.	.	.	C	8.876	0.950379	0.18431	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.40476	1.03;1.03	3.06	-2.43	0.06522	.	0.700857	0.12983	N	0.423072	T	0.17746	0.0426	N	0.14661	0.345	0.09310	N	1	P;P	0.42871	0.792;0.564	B;B	0.38020	0.263;0.192	T	0.12400	-1.0549	10	0.46703	T	0.11	-0.0386	1.6074	0.02687	0.3606:0.3463:0.177:0.1161	.	381;381	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	M	381	ENSP00000404382:R381M;ENSP00000254336:R381M	ENSP00000254336:R381M	R	-	2	0	C19orf57	13861527	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.204000	0.17335	-0.321000	0.08627	-0.140000	0.14226	AGG		0.667	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		39	208	1	0	3.33393e-15	1	3.63836e-15	39	208					A	14000527	C	A	14000527	3	1	79	1	0	0	0	0	1	0	0	0	1946	681	24	3	783	3	C19orf57	19	14000527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12216	14000527	45128456	18739	29056											
DCAF15	90379	broad.mit.edu	37	chr19	14067054	14067054	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtgctgcttgccaggAtgccagccgagcccacccag	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14067054A>G	ENST00000254337.6	+	5	614	c.593A>G	c.(592-594)gAt>gGt	p.D198G	PODNL1_ENST00000538517.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538371.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	198					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667																																						ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(592-594)gAt>gGt		DDB1 and CUL4 associated factor 15							29	27	28					19																	14067054		2201	4298	6499	SO:0001583	missense	90379							g.chr19:14067054A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.593A>G	19.37:g.14067054A>G	ENSP00000254337:p.Asp198Gly						p.D198G	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			5	614	+			198					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.593A>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	15.09	2.730928	0.48939	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.58	4.58	0.56647	.	0.370632	0.25065	N	0.033412	T	0.32041	0.0816	L	0.36672	1.1	0.26519	N	0.974469	B	0.30361	0.277	B	0.23419	0.046	T	0.19353	-1.0308	9	0.37606	T	0.19	-4.1699	13.2115	0.59828	1.0:0.0:0.0:0.0	.	198	Q66K64	DCA15_HUMAN	G	198	.	ENSP00000254337:D198G	D	+	2	0	DCAF15	13928054	0.997000	0.39634	0.965000	0.40720	0.960000	0.62799	3.933000	0.56545	1.826000	0.53198	0.448000	0.29417	GAT		0.667	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		38	187	0	0	0	1	0	38	187					G	14067054	A	G	14067054	3	3	79	1	0	0	0	0	1	0	0	0	4278	333	12	4	611	4	DCAF15	19	14067054	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	66527	14067054	45061929	18740	29057											
DCAF15	90379	broad.mit.edu	37	chr19	14069989	14069989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaggcggccccagcccGttcttctgggtctcctgagc	12	17	3	2	rs369708095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14069989G>A	ENST00000254337.6	+	7	938	c.917G>A	c.(916-918)cGt>cAt	p.R306H		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	306					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCAGCCCGTTCTTCTGGG	0.701													G|||	4	0.000798722	0.0	0.0	5008	,	,		11150	0.0		0.0	False		,,,				2504	0.0041					ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(916-918)cGt>cAt		DDB1 and CUL4 associated factor 15							27	34	32					19																	14069989		2203	4299	6502	SO:0001583	missense	90379							g.chr19:14069989G>A	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.917G>A	19.37:g.14069989G>A	ENSP00000254337:p.Arg306His						p.R306H	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			7	938	+			306					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.917G>A	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	g	5.964	0.361856	0.11296	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.65	2.51	0.30379	.	1.602430	0.03963	U	0.290281	T	0.21841	0.0526	N	0.14661	0.345	0.09310	N	0.999998	B	0.33964	0.434	B	0.29440	0.102	T	0.20075	-1.0286	9	0.30854	T	0.27	-3.0763	6.1558	0.20335	0.3277:0.0:0.6723:0.0	.	306	Q66K64	DCA15_HUMAN	H	306	.	ENSP00000254337:R306H	R	+	2	0	DCAF15	13930989	0.000000	0.05858	0.345000	0.25642	0.023000	0.10783	-0.092000	0.11129	0.380000	0.24823	0.561000	0.74099	CGT		0.701	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		83	416	0	0	0	1	0	83	416					A	14069989	G	A	14069989	3	1	79	1	0	0	0	0	1	0	0	0	4278	1145	40	1	943	1	DCAF15	19	14069989	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2935	14069989	45058994	18741	29058											
DCAF15	90379	broad.mit.edu	37	chr19	14071137	14071137	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcaaggtggcatgggAcctcaacacagggatcttcg	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14071137A>G	ENST00000254337.6	+	11	1586	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	522					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGGCATGGGACCTCAACACA	0.617											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000254337.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1564-1566)gAc>gGc		DDB1 and CUL4 associated factor 15							143	125	131					19																	14071137		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14071137A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1565A>G	19.37:g.14071137A>G	ENSP00000254337:p.Asp522Gly		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.D522G	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN			11	1586	+			522					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1565A>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	23.5	4.428411	0.83667	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.16	4.16	0.48862	.	0.066152	0.56097	D	0.000025	T	0.63674	0.2531	L	0.34521	1.04	0.58432	D	0.999999	D	0.69078	0.997	D	0.66716	0.946	T	0.67573	-0.5636	9	0.87932	D	0	-26.636	12.4814	0.55844	1.0:0.0:0.0:0.0	.	522	Q66K64	DCA15_HUMAN	G	522	.	ENSP00000254337:D522G	D	+	2	0	DCAF15	13932137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	1.666000	0.50821	0.459000	0.35465	GAC		0.617	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		84	401	0	0	0	1	0	84	401					G	14071137	A	G	14071137	3	3	79	1	0	0	0	0	1	0	0	0	4278	275	10	4	1607	4	DCAF15	19	14071137	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1148	14071137	45057846	18742	29059											
RFX1	5989	broad.mit.edu	37	chr19	14080831	14080831	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccagacggcgggttcgcaGgcccatgaagacggagcgga	17	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080831G>T	ENST00000254325.4	-	10	1705	c.1471C>A	c.(1471-1473)Ctg>Atg	p.L491M		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	491					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGTTCGCAGGCCCATGAAG	0.647																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1471-1473)Ctg>Atg		regulatory factor X, 1 (influences HLA class II expression)							52	51	51					19																	14080831		2203	4300	6503	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14080831G>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1471C>A	19.37:g.14080831G>T	ENSP00000254325:p.Leu491Met						p.L491M	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		10	1705	-			491						Missense_Mutation	SNP	ENST00000254325.4	37	c.1471C>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.922568	0.73213	.	.	ENSG00000132005	ENST00000254325	D	0.85556	-2.0	4.89	3.79	0.43588	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.91998	0.7465	M	0.85859	2.78	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.92113	0.5697	10	0.87932	D	0	-21.6286	10.9679	0.47422	0.1032:0.0:0.8968:0.0	.	491	P22670	RFX1_HUMAN	M	491	ENSP00000254325:L491M	ENSP00000254325:L491M	L	-	1	2	RFX1	13941831	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.068000	0.57534	0.929000	0.37192	0.563000	0.77884	CTG		0.647	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		47	230	1	0	8.86878e-18	1	9.80954e-18	47	230					T	14080831	G	T	14080831	3	4	79	1	0	0	0	0	1	0	0	0	13312	991	35	3	1516	3	RFX1	19	14080831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9694	14080831	45048152	18743	29060											
RFX1	5989	broad.mit.edu	37	chr19	14080949	14080949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctccgtggcagactcacGccctcagccgtctcatagtt	10	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080949G>A	ENST00000254325.4	-	10	1587	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	451					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.G451G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGACTCACGCCCTCAGCCG	0.622																																						ENST00000254325.4																			1	Substitution - coding silent(1)	p.G451G(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1351-1353)ggC>ggT		regulatory factor X, 1 (influences HLA class II expression)							62	59	60					19																	14080949		2203	4300	6503	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14080949G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1353C>T	19.37:g.14080949G>A							p.G451G	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		10	1587	-			451						Silent	SNP	ENST00000254325.4	37	c.1353C>T	CCDS12301.1																																																																																				0.622	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		69	328	0	0	0	1	0	69	328					A	14080949	G	A	14080949	2	1	79	1	0	0	0	0	0	0	0	1	13312	1074	38	1		1	RFX1	19	14080949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	14080949	45048034	18744	29061											
SAMD1	5566	broad.mit.edu	37	chr19	14200027	14200027	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcactctgaggtccccGctcgccgttaagctggtggt	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14200027G>A	ENST00000308677.4	-	0	2677				PRKACA_ENST00000350356.3_5'Flank|SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.R262W	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						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						TGAGGTCCCCGCTCGCCGTTA	0.642																																						ENST00000533683.2																			0				endometrium(3)	3						c.(784-786)Cgg>Tgg		sterile alpha motif domain containing 1							43	48	46					19																	14200027		2020	4163	6183	SO:0001628	intergenic_variant	90378					cytoplasm|extracellular region		g.chr19:14200027G>A		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			19.37:g.14200027G>A							p.R262W	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	2	1071	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	368					Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.784C>T	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529163	0.64860	.	.	ENSG00000141858	ENST00000533683	T	0.50813	0.73	3.97	-0.628	0.11537	.	0.684767	0.12585	N	0.456105	T	0.37544	0.1007	N	0.19112	0.55	0.29230	N	0.873336	D	0.63880	0.993	P	0.50378	0.639	T	0.39210	-0.9625	10	0.46703	T	0.11	-14.4101	9.3634	0.38210	0.0:0.0:0.3409:0.6591	.	262	E9PIW9	.	W	262	ENSP00000431971:R262W	ENSP00000431971:R262W	R	-	1	2	SAMD1	14061027	0.032000	0.19561	0.991000	0.47740	0.932000	0.56968	0.329000	0.19698	0.217000	0.20800	0.462000	0.41574	CGG		0.642	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		8	68	0	0	0	1	0	8	68					A	14200027	G	A	14200027	1	1	79	0	1	0	0	0	0	0	0	0	13864	1086	38	1		1	SAMD1	19	14200027	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119078	14200027	44928956	18745	29062											
ASF1B	55723	broad.mit.edu	37	chr19	14231410	14231410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcctccagcctgtccAtgttgttgtcccagttgata	9	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14231410A>G	ENST00000263382.3	-	4	969	c.470T>C	c.(469-471)aTg>aCg	p.M157T	PRKACA_ENST00000590853.1_5'Flank|PRKACA_ENST00000308677.4_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA|ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	157					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CAGCCTGTCCATGTTGTTGTC	0.617																																						ENST00000263382.3																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(469-471)aTg>aCg		anti-silencing function 1B histone chaperone							74	65	68					19																	14231410		2203	4300	6503	SO:0001583	missense	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14231410A>G	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.470T>C	19.37:g.14231410A>G	ENSP00000263382:p.Met157Thr					ASF1B_ENST00000592798.1_Missense_Mutation_p.M98T	p.M157T	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN			4	969	-			157					Q53G51|Q9NVZ0	Missense_Mutation	SNP	ENST00000263382.3	37	c.470T>C	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	a	0.383	-0.927845	0.02377	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	-3.06	0.05379	.	1.694630	0.02767	N	0.119296	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17592	-1.0364	9	0.06757	T	0.87	.	4.5182	0.11947	0.4499:0.0:0.3051:0.245	.	157	Q9NVP2	ASF1B_HUMAN	T	157	.	ENSP00000263382:M157T	M	-	2	0	ASF1B	14092410	0.000000	0.05858	0.000000	0.03702	0.904000	0.53231	0.439000	0.21575	-0.706000	0.05028	-0.783000	0.03347	ATG		0.617	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1	NM_018154		37	217	0	0	0	1	0	37	217					G	14231410	A	G	14231410	3	3	79	1	0	0	0	0	1	0	0	0	1039	217	8	4	142	4	ASF1B	19	14231410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31383	14231410	44897573	18746	29063											
LPHN1	22859	broad.mit.edu	37	chr19	14266186	14266186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttcttctgtaaggcGcagtgaaagacgaagatgaa	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14266186G>A	ENST00000340736.6	-	19	3591	c.3294C>T	c.(3292-3294)tgC>tgT	p.C1098C	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1098					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGTAAGGCGCAGTGAAAGA	0.592																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3292-3294)tgC>tgT		latrophilin 1							149	141	143					19																	14266186		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266186G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3294C>T	19.37:g.14266186G>A						CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.C1093C|CTB-55O6.12_ENST00000588387.1_RNA	p.C1098C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			19	3591	-			1098					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.3294C>T	CCDS32928.1																																																																																				0.592	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		151	680	0	0	0	1	0	151	680					A	14266186	G	A	14266186	2	1	79	1	0	0	0	0	0	0	0	1	8953	1079	38	1		1	LPHN1	19	14266186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34776	14266186	44862797	18747	29064											
LPHN1	22859	broad.mit.edu	37	chr19	14267880	14267880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actagtagcaggtagaggtgCacgccctccaggcacagcca	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14267880C>T	ENST00000340736.6	-	16	3135	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	946					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGAGGTGCACGCCCTCCA	0.612																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2836-2838)gtG>gtA		latrophilin 1							52	51	51					19																	14267880		2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14267880C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2838G>A	19.37:g.14267880C>T						CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V941V|CTB-55O6.12_ENST00000588387.1_RNA	p.V946V	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			16	3135	-			946					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.2838G>A	CCDS32928.1																																																																																				0.612	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		44	181	0	0	0	1	0	44	181					T	14267880	C	T	14267880	2	4	79	1	0	0	0	0	0	0	0	1	8953	697	25	2		2	LPHN1	19	14267880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1694	14267880	44861103	18748	29065											
LPHN1	22859	broad.mit.edu	37	chr19	14273951	14273951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgcgtgcgctccttgTtgtagaagacggcaccatcg	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14273951T>G	ENST00000340736.6	-	6	974	c.677A>C	c.(676-678)aAc>aCc	p.N226T	LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	226	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCTCCTTGTTGTAGAAGAC	0.612																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(676-678)aAc>aCc		latrophilin 1							143	101	115					19																	14273951		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273951T>G	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.677A>C	19.37:g.14273951T>G	ENSP00000340688:p.Asn226Thr					LPHN1_ENST00000591528.1_5'UTR|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.N221T|CTB-55O6.12_ENST00000588387.1_RNA	p.N226T	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	974	-			226			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.677A>C	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379385	0.82682	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.88586	-2.4;-2.4	4.95	4.95	0.65309	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91908	0.7438	M	0.67700	2.07	0.54753	D	0.999988	P;D	0.55605	0.931;0.972	P;P	0.58266	0.747;0.836	D	0.92216	0.5780	10	0.56958	D	0.05	.	12.5834	0.56403	0.0:0.0:0.0:1.0	.	221;226	O94910-2;O94910	.;LPHN1_HUMAN	T	226;221	ENSP00000340688:N226T;ENSP00000355328:N221T	ENSP00000340688:N226T	N	-	2	0	LPHN1	14134951	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.969000	0.87988	1.846000	0.53633	0.533000	0.62120	AAC		0.612	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		77	310	0	0	0	1	0	77	310					G	14273951	T	G	14273951	3	3	79	1	0	0	0	0	1	0	0	0	8953	1725	60	4	3823	4	LPHN1	19	14273951	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6071	14273951	44855032	18749	29066											
CD97	976	broad.mit.edu	37	chr19	14501839	14501839	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgcagcccgggatatgaGcctgtttctggggcaaaaac	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14501839G>A	ENST00000242786.5	+	4	374	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CD97_ENST00000358600.3_Silent_p.E98E|CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000587728.1_3'UTR	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	98	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGATATGAGCCTGTTTCTG	0.527																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(292-294)gaG>gaA		CD97 molecule							171	138	149					19																	14501839		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14501839G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.294G>A	19.37:g.14501839G>A						CD97_ENST00000357355.3_Silent_p.E98E|CD97_ENST00000358600.3_Silent_p.E98E|CD97_ENST00000587728.1_3'UTR	p.E98E	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			4	374	+			98			EGF-like 2; calcium-binding (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.294G>A	CCDS32929.1																																																																																				0.527	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		57	364	0	0	0	1	0	57	364					A	14501839	G	A	14501839	2	1	79	1	0	0	0	0	0	0	0	1	3058	962	34	2		2	CD97	19	14501839	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227888	14501839	44627144	18750	29067											
CD97	976	broad.mit.edu	37	chr19	14517707	14517707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcattttcgtgactacCgtctggaagctcactcagaa	9	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517707C>T	ENST00000242786.5	+	17	2222	c.2142C>T	c.(2140-2142)acC>acT	p.T714T	CD97_ENST00000358600.3_Silent_p.T621T|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Silent_p.T665T|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	714					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						TCGTGACTACCGTCTGGAAGC	0.562											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2140-2142)acC>acT		CD97 molecule							201	217	212					19																	14517707		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517707C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2142C>T	19.37:g.14517707C>T			OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	695	CD97_ENST00000357355.3_Silent_p.T665T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.T621T	p.T714T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			17	2222	+			714					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.2142C>T	CCDS32929.1																																																																																				0.562	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		56	1735	0	0	0	1	0	56	1735					T	14517707	C	T	14517707	2	4	79	1	0	0	0	0	0	0	0	1	3058	639	23	1		1	CD97	19	14517707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15868	14517707	44611276	18751	29068											
CD97	976	broad.mit.edu	37	chr19	14517876	14517876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccccgctcctcgcagggcGctgaccatcacggccatcgc	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517876G>A	ENST00000242786.5	+	18	2291	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	CD97_ENST00000358600.3_Silent_p.A644A|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Silent_p.A688A|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	737					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						CTCGCAGGGCGCTGACCATCA	0.647																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2209-2211)gcG>gcA		CD97 molecule							94	69	77					19																	14517876		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517876G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2211G>A	19.37:g.14517876G>A						CD97_ENST00000357355.3_Silent_p.A688A|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.A644A	p.A737A	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			18	2291	+			737					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.2211G>A	CCDS32929.1																																																																																				0.647	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		34	408	0	0	0	1	0	34	408					A	14517876	G	A	14517876	2	1	79	1	0	0	0	0	0	0	0	1	3058	1074	38	1		1	CD97	19	14517876	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	14517876	44611107	18752	29069											
DDX39	10212	broad.mit.edu	37	chr19	14521030	14521030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cactctcgccctactcacatCctgcatgaacttcctgcaca	4	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14521030C>T	ENST00000242776.4	-	6	831	c.730G>A	c.(730-732)Gat>Aat	p.D244N	DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.D244N|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	244	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTACTCACATCCTGCATGAAC	0.637																																						ENST00000242776.4																			0				NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						c.(730-732)Gat>Aat		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A							145	98	114					19																	14521030		2203	4300	6503	SO:0001583	missense	10212				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr19:14521030C>T	U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.730G>A	19.37:g.14521030C>T	ENSP00000242776:p.Asp244Asn					DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Missense_Mutation_p.D244N	p.D244N	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN			6	831	-			244			Helicase ATP-binding.		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	ENST00000242776.4	37	c.730G>A	CCDS12308.1	.	.	.	.	.	.	.	.	.	.	c	13.91	2.376840	0.42105	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.41758	3.53;0.99;0.99	4.96	4.96	0.65561	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.04148	-0.265	0.80722	D	1	B;B	0.24186	0.099;0.002	B;B	0.29785	0.107;0.004	T	0.10683	-1.0619	10	0.13853	T	0.58	-31.4115	15.6956	0.77494	0.0:1.0:0.0:0.0	.	244;244	B1Q2N1;O00148	.;DX39A_HUMAN	N	287;244;244;244	ENSP00000242776:D244N;ENSP00000322749:D244N;ENSP00000392929:D244N	ENSP00000242776:D244N	D	-	1	0	DDX39A	14382030	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.812000	0.75226	2.300000	0.77407	0.556000	0.70494	GAT		0.637	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459880.1	NM_138998		77	327	0	0	0	1	0	77	327					T	14521030	C	T	14521030	3	4	79	1	0	0	0	0	1	0	0	0	4368	855	30	2	577	2	DDX39	19	14521030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3154	14521030	44607953	18753	29070											
PKN1	5585	broad.mit.edu	37	chr19	14554324	14554324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtggccccacctgctcggCcaccaacctgagccgcgtgg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14554324C>T	ENST00000242783.6	+	3	530	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PKN1_ENST00000587429.1_3'UTR|PKN1_ENST00000342216.4_Missense_Mutation_p.A128V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	122					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						ACCTGCTCGGCCACCAACCTG	0.662																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(364-366)gCc>gTc		protein kinase N1							47	58	54					19																	14554324		2174	4292	6466	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14554324C>T	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.365C>T	19.37:g.14554324C>T	ENSP00000242783:p.Ala122Val					PKN1_ENST00000342216.4_Missense_Mutation_p.A128V|PKN1_ENST00000587429.1_3'UTR	p.A122V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			3	530	+			122					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.365C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563159	0.45694	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65549	-0.16;-0.16	4.01	4.01	0.46588	.	0.197201	0.34411	U	0.003983	T	0.42291	0.1196	N	0.22421	0.69	0.31609	N	0.651697	B;B	0.25609	0.13;0.079	B;B	0.16289	0.015;0.007	T	0.44726	-0.9309	10	0.22706	T	0.39	-0.0488	9.1301	0.36839	0.2185:0.7815:0.0:0.0	.	128;122	Q16512-2;Q16512	.;PKN1_HUMAN	V	122;128	ENSP00000242783:A122V;ENSP00000343325:A128V	ENSP00000242783:A122V	A	+	2	0	PKN1	14415324	0.765000	0.28485	1.000000	0.80357	0.933000	0.57130	1.622000	0.36997	1.794000	0.52575	0.491000	0.48974	GCC		0.662	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		16	71	0	0	0	1	0	16	71					T	14554324	C	T	14554324	3	4	79	1	0	0	0	0	1	0	0	0	12021	739	26	2	418	2	PKN1	19	14554324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33294	14554324	44574659	18754	29071											
PKN1	5585	broad.mit.edu	37	chr19	14568859	14568859	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtgaagtcagcactgtGcttaagctggataacacagt	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14568859G>A	ENST00000242783.6	+	8	1347	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	CTC-548K16.6_ENST00000589702.1_RNA|PKN1_ENST00000342216.4_Silent_p.V400V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	394	C2.				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						TCAGCACTGTGCTTAAGCTGG	0.552																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1180-1182)gtG>gtA		protein kinase N1							147	143	144					19																	14568859		1984	4165	6149	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14568859G>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"protein kinase C-like 1"	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1182G>A	19.37:g.14568859G>A						PKN1_ENST00000342216.4_Silent_p.V400V	p.V394V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			8	1347	+			394			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.1182G>A	CCDS42513.1																																																																																				0.552	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		206	901	0	0	0	1	0	206	901					A	14568859	G	A	14568859	2	1	79	1	0	0	0	0	0	0	0	1	12021	1306	46	2		2	PKN1	19	14568859	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14535	14568859	44560124	18755	29072											
PKN1	5585	broad.mit.edu	37	chr19	14578761	14578761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaaggggacattgtggCccgagacgaggtggagaggt	19	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14578761C>T	ENST00000242783.6	+	15	2123	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	653	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						GACATTGTGGCCCGAGACGAG	0.587																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1957-1959)gCc>gTc		protein kinase N1							43	46	45					19																	14578761		1932	4127	6059	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14578761C>T	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.1958C>T	19.37:g.14578761C>T	ENSP00000242783:p.Ala653Val					PKN1_ENST00000342216.4_Missense_Mutation_p.A659V	p.A653V	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			15	2123	+			653			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1958C>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361481	0.82353	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.65732	-0.17;-0.17	4.62	4.62	0.57501	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	0.000007	T	0.61211	0.2329	N	0.11023	0.085	0.40078	D	0.976102	D;D	0.59767	0.982;0.986	P;D	0.64144	0.873;0.922	T	0.69818	-0.5042	10	0.72032	D	0.01	-7.1948	15.3299	0.74200	0.0:1.0:0.0:0.0	.	659;653	Q16512-2;Q16512	.;PKN1_HUMAN	V	653;659	ENSP00000242783:A653V;ENSP00000343325:A659V	ENSP00000242783:A653V	A	+	2	0	PKN1	14439761	0.994000	0.37717	1.000000	0.80357	0.964000	0.63967	3.566000	0.53805	2.555000	0.86185	0.561000	0.74099	GCC		0.587	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		66	195	0	0	0	1	0	66	195					T	14578761	C	T	14578761	3	4	79	1	0	0	0	0	1	0	0	0	12021	739	26	2	2059	2	PKN1	19	14578761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9902	14578761	44550222	18756	29073											
GIPC1	10755	broad.mit.edu	37	chr19	14593528	14593528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggcaggcggaaggcctcGgcgatcttgccatacagctc	14	12	1	0	rs559255899		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14593528G>A	ENST00000393033.4	-	4	530	c.261C>T	c.(259-261)gcC>gcT	p.A87A	GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000345425.2_Silent_p.A87A|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	87					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						GGAAGGCCTCGGCGATCTTGC	0.652																																					Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(259-261)gcC>gcT		GIPC PDZ domain containing family, member 1							49	39	42					19																	14593528		2203	4300	6503	SO:0001819	synonymous_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14593528G>A	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.261C>T	19.37:g.14593528G>A						GIPC1_ENST00000586027.1_Silent_p.A87A|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000345425.2_Silent_p.A87A	p.A87A	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			4	530	-			87					A8K4I3|A8MZG3|Q9BTC9	Silent	SNP	ENST00000393033.4	37	c.261C>T	CCDS12310.1																																																																																				0.652	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			30	116	0	0	0	1	0	30	116					A	14593528	G	A	14593528	2	1	79	1	0	0	0	0	0	0	0	1	6421	1103	39	1		1	GIPC1	19	14593528	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14767	14593528	44535455	18757	29074											
DNAJB1	3337	broad.mit.edu	37	chr19	14626848	14626848	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ataatgaggtccccacgtttCtcgggtgttttggggagggg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14626848C>A	ENST00000254322.2	-	3	997	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	309					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)		CCCCACGTTTCTCGGGTGTTT	0.507																																						ENST00000254322.2																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16						c.(925-927)gaG>gaT		DnaJ (Hsp40) homolog, subfamily B, member 1							85	83	84					19																	14626848		2203	4300	6503	SO:0001583	missense	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14626848C>A	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.927G>T	19.37:g.14626848C>A	ENSP00000254322:p.Glu309Asp					DNAJB1_ENST00000396969.4_Missense_Mutation_p.E209D	p.E309D	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	3	997	-			309					B4DX52	Missense_Mutation	SNP	ENST00000254322.2	37	c.927G>T	CCDS12312.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.523743	0.27299	.	.	ENSG00000132002	ENST00000254322;ENST00000396969	T;T	0.42131	0.98;0.98	4.84	2.64	0.31445	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.304487	0.35067	N	0.003465	T	0.21267	0.0512	N	0.12611	0.24	0.38586	D	0.950306	B	0.02656	0.0	B	0.01281	0.0	T	0.07271	-1.0781	10	0.20046	T	0.44	.	8.377	0.32449	0.1664:0.5109:0.3227:0.0	.	309	P25685	DNJB1_HUMAN	D	309;209	ENSP00000254322:E309D;ENSP00000444212:E209D	ENSP00000254322:E309D	E	-	3	2	DNAJB1	14487848	0.842000	0.29525	0.974000	0.42286	0.969000	0.65631	-0.088000	0.11198	0.441000	0.26529	0.313000	0.20887	GAG		0.507	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		95	397	1	0	7.62712e-44	1	9.32224e-44	95	397					A	14626848	C	A	14626848	3	1	79	1	0	0	0	0	1	0	0	0	4631	912	32	3	99	3	DNAJB1	19	14626848	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33320	14626848	44502135	18758	29075											
TECR	9524	broad.mit.edu	37	chr19	14676616	14676616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccaagggcaagcaccGcagctacctgaaggagttcc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676616G>A	ENST00000215567.5	+	13	997	c.860G>A	c.(859-861)cGc>cAc	p.R287H	TECR_ENST00000436007.2_Missense_Mutation_p.R302H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H|TECR_ENST00000600083.1_Missense_Mutation_p.R132H	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	287					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						GGCAAGCACCGCAGCTACCTG	0.662																																						ENST00000600083.1																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(394-396)cGc>cAc		trans-2,3-enoyl-CoA reductase							15	15	15					19																	14676616		2192	4285	6477	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14676616G>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.860G>A	19.37:g.14676616G>A	ENSP00000215567:p.Arg287His					TECR_ENST00000215567.5_Missense_Mutation_p.R287H|TECR_ENST00000596073.1_Missense_Mutation_p.R132H|TECR_ENST00000436007.2_Missense_Mutation_p.R302H	p.R132H			Q9NZ01	TECR_HUMAN			13	1028	+			287					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.395G>A	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180606	0.57800	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.30981	1.51;1.51	4.67	4.67	0.58626	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.82323	2.585	0.80722	D	1	B;B;B	0.27140	0.058;0.169;0.058	B;B;B	0.19946	0.027;0.027;0.027	T	0.43877	-0.9364	10	0.62326	D	0.03	-19.4336	15.0436	0.71811	0.0:0.0:1.0:0.0	.	287;302;287	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	H	287;302	ENSP00000215567:R287H;ENSP00000397206:R302H	ENSP00000215567:R287H	R	+	2	0	TECR	14537616	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.225000	0.78051	2.158000	0.67659	0.289000	0.19496	CGC		0.662	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		16	72	0	0	0	1	0	16	72					A	14676616	G	A	14676616	3	1	79	1	0	0	0	0	1	0	0	0	15797	1087	38	1	910	1	TECR	19	14676616	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49768	14676616	44452367	18759	29076											
TECR	9524	broad.mit.edu	37	chr19	14676647	14676647	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggagttccgggactacccGcccctgcgcatgcccatcat	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676647G>A	ENST00000215567.5	+	13	1028	c.891G>A	c.(889-891)ccG>ccA	p.P297P	TECR_ENST00000436007.2_Silent_p.P312P|TECR_ENST00000596073.1_Silent_p.P142P|TECR_ENST00000600083.1_Silent_p.P142P	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	297					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						GGGACTACCCGCCCCTGCGCA	0.657																																						ENST00000600083.1																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(424-426)ccG>ccA		trans-2,3-enoyl-CoA reductase							12	12	12					19																	14676647		2191	4258	6449	SO:0001819	synonymous_variant	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14676647G>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.891G>A	19.37:g.14676647G>A						TECR_ENST00000215567.5_Silent_p.P297P|TECR_ENST00000596073.1_Silent_p.P142P|TECR_ENST00000436007.2_Silent_p.P312P	p.P142P			Q9NZ01	TECR_HUMAN			13	1059	+			297					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	ENST00000215567.5	37	c.426G>A	CCDS12313.1																																																																																				0.657	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		7	80	0	0	0	1	0	7	80					A	14676647	G	A	14676647	2	1	79	1	0	0	0	0	0	0	0	1	15797	1074	38	1		1	TECR	19	14676647	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	14676647	44452336	18760	29077											
EMR3	84658	broad.mit.edu	37	chr19	14743812	14743812	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagaccaagataaacaAtactaaattcgcctgcagga	6	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14743812A>C	ENST00000253673.5	-	13	1664	c.1564T>G	c.(1564-1566)Ttg>Gtg	p.L522V	EMR3_ENST00000344373.4_Missense_Mutation_p.L470V|EMR3_ENST00000599900.1_Missense_Mutation_p.L307V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	522					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						AAGATAAACAATACTAAATTC	0.403																																						ENST00000253673.5																			0				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						c.(1564-1566)Ttg>Gtg		egf-like module containing, mucin-like, hormone receptor-like 3							97	91	93					19																	14743812		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14743812A>C	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.1564T>G	19.37:g.14743812A>C	ENSP00000253673:p.Leu522Val					EMR3_ENST00000599900.1_Missense_Mutation_p.L307V|EMR3_ENST00000443157.2_Missense_Mutation_p.L396V|EMR3_ENST00000344373.4_Missense_Mutation_p.L470V	p.L522V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			13	1664	-			522						Missense_Mutation	SNP	ENST00000253673.5	37	c.1564T>G	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	A	9.250	1.040406	0.19669	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.53857	0.6;0.6;0.6	4.08	1.96	0.26148	GPCR, family 2-like (1);	.	.	.	.	T	0.36524	0.0970	L	0.31845	0.965	0.09310	N	1	B;P;B	0.44946	0.382;0.846;0.372	B;B;B	0.40782	0.133;0.328;0.34	T	0.30679	-0.9970	9	0.66056	D	0.02	.	2.1925	0.03903	0.5755:0.0:0.2003:0.2242	.	396;470;522	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	V	396;522;470	ENSP00000396208:L396V;ENSP00000253673:L522V;ENSP00000340758:L470V	ENSP00000253673:L522V	L	-	1	2	EMR3	14604812	0.119000	0.22226	0.020000	0.16555	0.005000	0.04900	0.344000	0.19962	0.692000	0.31613	0.533000	0.62120	TTG		0.403	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		36	144	0	0	0	1	0	36	144					C	14743812	A	C	14743812	3	2	79	1	0	0	0	0	1	0	0	0	5124	98	4	4	410	4	EMR3	19	14743812	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67165	14743812	44385171	18761	29078											
ZNF333	84449	broad.mit.edu	37	chr19	14806443	14806443	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagcagagccaaaggcaacaGaacgagggattctccgtgcc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14806443G>T	ENST00000292530.6	+	4	284	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	ZNF333_ENST00000536363.1_5'UTR|ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601134.1_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	65	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AAAGGCAACAGAACGAGGGAT	0.572																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(193-195)Gaa>Taa		zinc finger protein 333							119	96	104					19																	14806443		2203	4300	6503	SO:0001587	stop_gained	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14806443G>T		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.193G>T	19.37:g.14806443G>T	ENSP00000292530:p.Glu65*					ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E65*|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000536363.1_5'UTR	p.E65*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			4	284	+			65			KRAB 1.		Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	ENST00000292530.6	37	c.193G>T	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891555	0.52014	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	.	.	.	2.47	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	5.2459	0.15496	0.1732:0.0:0.8268:0.0	.	.	.	.	X	65	.	ENSP00000292530:E65X	E	+	1	0	ZNF333	14667443	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.527000	0.22987	0.394000	0.25230	-0.350000	0.07774	GAA		0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		33	167	1	0	1.62565e-12	1	1.74646e-12	33	167					T	14806443	G	T	14806443	4	4	79	1	0	0	0	0	0	1	0	0	17903	943	33	3	203	3	ZNF333	19	14806443	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62631	14806443	44322540	18762	29079											
EMR2	30817	broad.mit.edu	37	chr19	14863237	14863237	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtgaggtgctggtgttctgGatggctttacacaggagaaa	15	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14863237G>T	ENST00000315576.3	-	15	2143	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000594294.1_Silent_p.I515I|EMR2_ENST00000353005.1_Silent_p.I422I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000392964.3_3'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	564					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGGTGTTCTGGATGGCTTTAC	0.572																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1690-1692)atC>atA		egf-like module containing, mucin-like, hormone receptor-like 2							128	111	117					19																	14863237		2203	4300	6503	SO:0001819	synonymous_variant	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14863237G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1692C>A	19.37:g.14863237G>T						EMR2_ENST00000595839.1_Silent_p.I422I|EMR2_ENST00000601345.1_Silent_p.I553I|EMR2_ENST00000392965.3_Silent_p.I506I|EMR2_ENST00000392967.2_Silent_p.I553I|EMR2_ENST00000596991.2_Silent_p.I553I|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000353005.1_Silent_p.I422I|EMR2_ENST00000594076.1_Silent_p.I471I|EMR2_ENST00000353876.1_Silent_p.I471I|EMR2_ENST00000346057.1_Silent_p.I515I|EMR2_ENST00000594294.1_Silent_p.I515I	p.I564I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			15	2143	-			564					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Silent	SNP	ENST00000315576.3	37	c.1692C>A	CCDS32935.1																																																																																				0.572	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			51	321	1	0	2.74695e-27	1	3.17909e-27	51	321					T	14863237	G	T	14863237	2	4	79	1	0	0	0	0	0	0	0	1	5123	1164	41	3		3	EMR2	19	14863237	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56794	14863237	44265746	18763	29080											
EMR2	30817	broad.mit.edu	37	chr19	14877892	14877892	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccgtagcttttacagaGccttgggttctgctgacatt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14877892G>T	ENST00000315576.3	-	6	836	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000599423.1_5'Flank|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000392964.3_5'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	129	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTTTTACAGAGCCTTGGGTTC	0.587																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(385-387)Ctc>Atc		egf-like module containing, mucin-like, hormone receptor-like 2							84	77	79					19																	14877892		2203	4298	6501	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14877892G>T	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.385C>A	19.37:g.14877892G>T	ENSP00000319883:p.Leu129Ile					EMR2_ENST00000595839.1_Intron|EMR2_ENST00000601345.1_Missense_Mutation_p.L129I|EMR2_ENST00000392965.3_Missense_Mutation_p.L129I|EMR2_ENST00000392967.2_Missense_Mutation_p.L129I|EMR2_ENST00000596991.2_Missense_Mutation_p.L129I|EMR2_ENST00000392964.3_5'UTR|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L129I|EMR2_ENST00000594294.1_Missense_Mutation_p.L129I	p.L129I	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			6	836	-			129			EGF-like 3; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.385C>A	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	G	2.433	-0.330439	0.05314	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93;-2.93	3.72	-7.44	0.01379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78194	0.4245	N	0.11313	0.125	0.09310	N	1	B;B;B;B	0.15473	0.004;0.008;0.013;0.007	B;B;B;B	0.17098	0.005;0.007;0.017;0.006	T	0.64980	-0.6279	9	0.27785	T	0.31	.	5.1675	0.15094	0.0949:0.4357:0.3466:0.1228	.	129;129;129;129	E7ESD7;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;EMR2_HUMAN;.	I	129	ENSP00000319883:L129I;ENSP00000376694:L129I;ENSP00000263380:L129I;ENSP00000376692:L129I;ENSP00000376689:L129I	ENSP00000319883:L129I	L	-	1	0	EMR2	14738892	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-5.110000	0.00150	-2.490000	0.00517	-0.429000	0.05907	CTC		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			21	572	1	0	7.45023e-12	1	7.97024e-12	21	572					T	14877892	G	T	14877892	3	4	79	1	0	0	0	0	1	0	0	0	5123	971	34	3	2150	3	EMR2	19	14877892	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14655	14877892	44251091	18764	29081											
SLC1A6	6511	broad.mit.edu	37	chr19	15063766	15063766	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtccacggcaatgatgagCgtgatgtcttccgtgggcaa	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063766C>T	ENST00000221742.3	-	8	1480	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	SLC1A6_ENST00000430939.2_Silent_p.T427T|SLC1A6_ENST00000600144.1_Silent_p.T413T	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	491					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CAATGATGAGCGTGATGTCTT	0.607																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1279-1281)acG>acA		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						199	150	167					19																	15063766		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15063766C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1473G>A	19.37:g.15063766C>T						SLC1A6_ENST00000600144.1_Silent_p.T413T|SLC1A6_ENST00000221742.3_Silent_p.T491T	p.T427T			P48664	EAA4_HUMAN			8	1410	-			491					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1281G>A	CCDS12321.1																																																																																				0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		93	502	0	0	0	1	0	93	502					T	15063766	C	T	15063766	2	4	79	1	0	0	0	0	0	0	0	1	14486	755	27	1		1	SLC1A6	19	15063766	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185874	15063766	44065217	18765	29082											
SLC1A6	6511	broad.mit.edu	37	chr19	15063833	15063833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaccagacccgcctggGggatgccagcagccccaaca	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063833G>A	ENST00000221742.3	-	8	1413	c.1406C>T	c.(1405-1407)cCc>cTc	p.P469L	SLC1A6_ENST00000430939.2_Missense_Mutation_p.P405L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P391L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	469					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						ACCCGCCTGGGGGATGCCAGC	0.607																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1213-1215)cCc>cTc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						110	101	104					19																	15063833		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15063833G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1406C>T	19.37:g.15063833G>A	ENSP00000221742:p.Pro469Leu					SLC1A6_ENST00000600144.1_Missense_Mutation_p.P391L|SLC1A6_ENST00000221742.3_Missense_Mutation_p.P469L	p.P405L			P48664	EAA4_HUMAN			8	1343	-			469					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1214C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	-	25.8	4.678153	0.88542	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.76186	-1.0;-1.0	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.978;1.0	D	0.94009	0.7282	10	0.87932	D	0	-27.8098	14.8789	0.70516	0.0:0.0:1.0:0.0	.	405;469	E7EV13;P48664	.;EAA4_HUMAN	L	405;469	ENSP00000409386:P405L;ENSP00000221742:P469L	ENSP00000221742:P469L	P	-	2	0	SLC1A6	14924833	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.401000	0.97294	2.451000	0.82905	0.446000	0.29264	CCC		0.607	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		116	578	0	0	0	1	0	116	578					A	15063833	G	A	15063833	3	1	79	1	0	0	0	0	1	0	0	0	14486	1232	43	2	296	2	SLC1A6	19	15063833	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67	15063833	44065150	18766	29083											
SLC1A6	6511	broad.mit.edu	37	chr19	15065121	15065121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccaggcagcggaagGtgatgggcagcgttgccgag	16	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15065121G>A	ENST00000221742.3	-	7	1197	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I	SLC1A6_ENST00000430939.2_Missense_Mutation_p.T333I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	397					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCAGCGGAAGGTGATGGGCAG	0.692																																						ENST00000430939.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(997-999)aCc>aTc		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						50	47	48					19																	15065121		2203	4299	6502	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15065121G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1190C>T	19.37:g.15065121G>A	ENSP00000221742:p.Thr397Ile					SLC1A6_ENST00000600144.1_Missense_Mutation_p.T319I|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T397I	p.T333I			P48664	EAA4_HUMAN			7	1127	-			397					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.998C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.714401	0.89112	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.61742	0.37;0.08	4.52	4.52	0.55395	.	0.161650	0.53938	D	0.000041	T	0.77968	0.4210	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.82028	-0.0660	10	0.87932	D	0	-31.7608	15.1319	0.72530	0.0:0.0:1.0:0.0	.	333;397	E7EV13;P48664	.;EAA4_HUMAN	I	333;397	ENSP00000409386:T333I;ENSP00000221742:T397I	ENSP00000221742:T397I	T	-	2	0	SLC1A6	14926121	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.636000	0.83301	2.518000	0.84900	0.546000	0.68486	ACC		0.692	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		83	353	0	0	0	1	0	83	353					A	15065121	G	A	15065121	3	1	79	1	0	0	0	0	1	0	0	0	14486	1261	44	2	516	2	SLC1A6	19	15065121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1288	15065121	44063862	18767	29084											
SYDE1	85360	broad.mit.edu	37	chr19	15221544	15221544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatcgagcgccgagggctgCgggtgagcacccaccccacc	14	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15221544C>T	ENST00000342784.2	+	4	1319	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000600252.1_Missense_Mutation_p.R87W	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	430	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCGAGGGCTGCGGGTGAGCAC	0.687																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(259-261)Cgg>Tgg		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							8	11	10					19																	15221544		2176	4239	6415	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15221544C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1288C>T	19.37:g.15221544C>T	ENSP00000341489:p.Arg430Trp					SYDE1_ENST00000600440.1_Missense_Mutation_p.R363W|SYDE1_ENST00000342784.2_Missense_Mutation_p.R430W	p.R87W			Q6ZW31	SYDE1_HUMAN			1	1901	+			430			Pro-rich.		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.259C>T	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569073	0.45798	.	.	ENSG00000105137	ENST00000342784	T	0.20598	2.06	4.94	1.41	0.22369	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.098867	0.42821	D	0.000654	T	0.42108	0.1188	M	0.71871	2.18	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.993	T	0.29366	-1.0014	10	0.87932	D	0	.	11.9895	0.53168	0.4511:0.5489:0.0:0.0	.	363;363;430	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	W	430	ENSP00000341489:R430W	ENSP00000341489:R430W	R	+	1	2	SYDE1	15082544	0.992000	0.36948	0.990000	0.47175	0.087000	0.18053	1.567000	0.36407	0.100000	0.17581	0.471000	0.43371	CGG		0.687	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		9	28	0	0	0	1	0	9	28					T	15221544	C	T	15221544	3	4	79	1	0	0	0	0	1	0	0	0	15487	759	27	1	1302	1	SYDE1	19	15221544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	156423	15221544	43907439	18768	29085											
ILVBL	10994	broad.mit.edu	37	chr19	15226130	15226130	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgaccacaaccgggtggCcgtctcggcactgctgctgg	14	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15226130C>A	ENST00000263383.3	-	16	1971	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V	ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	611						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AACCGGGTGGCCGTCTCGGCA	0.637																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(1831-1833)gGc>gTc		ilvB (bacterial acetolactate synthase)-like							132	99	110					19																	15226130		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15226130C>A	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1832G>T	19.37:g.15226130C>A	ENSP00000263383:p.Gly611Val					ILVBL_ENST00000534378.1_Missense_Mutation_p.G504V	p.G611V	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			16	1971	-			611					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.1832G>T	CCDS12325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.940381|3.940381	0.73557|0.73557	.|.	.|.	ENSG00000105135|ENSG00000105135	ENST00000269733|ENST00000263383	.|T	.|0.48522	.|0.81	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.77545	.|0.4146	H|H	0.96080|0.96080	3.765|3.765	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.70227	.|0.968	.|D	.|0.84377	.|0.0547	.|10	.|0.66056	.|D	.|0.02	.|-28.1197	14.6173|14.6173	0.68558|0.68558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|611	.|A1L0T0	.|ILVBL_HUMAN	.|V	-1|611	.|ENSP00000263383:G611V	.|ENSP00000263383:G611V	.|G	-|-	.|2	.|0	ILVBL|ILVBL	15087130|15087130	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.611000|0.611000	0.37282|0.37282	7.211000|7.211000	0.77933|0.77933	2.528000|2.528000	0.85240|0.85240	0.655000|0.655000	0.94253|0.94253	.|GGC		0.637	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		83	367	1	0	2.36429e-26	1	2.72346e-26	83	367					A	15226130	C	A	15226130	3	1	79	1	0	0	0	0	1	0	0	0	7745	739	26	3	70	3	ILVBL	19	15226130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4586	15226130	43902853	18769	29086											
ILVBL	10994	broad.mit.edu	37	chr19	15233511	15233511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggctattcaccaggagaCcactcggcccacgaggccct	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15233511C>T	ENST00000263383.3	-	6	848	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	AC003956.1_ENST00000598450.1_RNA|ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	237						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCAGGAGACCACTCGGCCC	0.597																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(709-711)Gtc>Atc		ilvB (bacterial acetolactate synthase)-like							63	59	61					19																	15233511		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15233511C>T	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.709G>A	19.37:g.15233511C>T	ENSP00000263383:p.Val237Ile					ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.V130I	p.V237I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			6	848	-			237					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.709G>A	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	8.052	0.766195	0.15983	.	.	ENSG00000105135	ENST00000263383;ENST00000527093	T	0.30448	1.53	4.36	1.06	0.20224	.	0.423880	0.25552	N	0.029899	T	0.20577	0.0495	L	0.39245	1.2	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15464	-1.0436	10	0.33940	T	0.23	-13.666	6.6627	0.23022	0.0:0.6123:0.0:0.3877	.	237	A1L0T0	ILVBL_HUMAN	I	237	ENSP00000263383:V237I	ENSP00000263383:V237I	V	-	1	0	ILVBL	15094511	0.122000	0.22280	0.001000	0.08648	0.082000	0.17680	0.614000	0.24314	0.141000	0.18875	-0.291000	0.09656	GTC		0.597	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		49	213	0	0	0	1	0	49	213					T	15233511	C	T	15233511	3	4	79	1	0	0	0	0	1	0	0	0	7745	507	18	2	1233	2	ILVBL	19	15233511	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7381	15233511	43895472	18770	29087											
NOTCH3	4854	broad.mit.edu	37	chr19	15271773	15271773	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgtgccccagccgcCgggtactcctcgccatgtcc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15271773C>T	ENST00000263388.2	-	33	6741	c.6666G>A	c.(6664-6666)ccG>ccA	p.P2222P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2222					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)			CCCCAGCCGCCGGGTACTCCT	0.711																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6664-6666)ccG>ccA		notch 3							5	7	6					19																	15271773		2078	4125	6203	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271773C>T	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.6666G>A	19.37:g.15271773C>T							p.P2222P	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6741	-			2222					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6666G>A	CCDS12326.1																																																																																				0.711	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		12	53	0	0	0	1	0	12	53					T	15271773	C	T	15271773	2	4	79	1	0	0	0	0	0	0	0	1	10592	639	23	1		1	NOTCH3	19	15271773	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38262	15271773	43857210	18771	29088											
NOTCH3	4854	broad.mit.edu	37	chr19	15276713	15276713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcttggctgcatcagcaCgggcataacgggcagccagg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15276713C>T	ENST00000263388.2	-	30	5627	c.5552G>A	c.(5551-5553)cGt>cAt	p.R1851H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1851					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)			TGCATCAGCACGGGCATAACG	0.642																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5551-5553)cGt>cAt		notch 3							59	46	50					19																	15276713		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276713C>T	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.5552G>A	19.37:g.15276713C>T	ENSP00000263388:p.Arg1851His						p.R1851H	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5627	-			1851					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.5552G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098280	0.94197	.	.	ENSG00000074181	ENST00000263388	T	0.62639	0.01	5.36	5.36	0.76844	Ankyrin repeat-containing domain (4);	0.000000	0.29684	N	0.011477	T	0.66317	0.2777	N	0.12443	0.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72701	-0.4214	10	0.87932	D	0	.	18.0231	0.89261	0.0:1.0:0.0:0.0	.	1851	Q9UM47	NOTC3_HUMAN	H	1851	ENSP00000263388:R1851H	ENSP00000263388:R1851H	R	-	2	0	NOTCH3	15137713	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.557000	0.82243	2.790000	0.95986	0.655000	0.94253	CGT		0.642	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		19	160	0	0	0	1	0	19	160					T	15276713	C	T	15276713	3	4	79	1	0	0	0	0	1	0	0	0	10592	536	19	1	1429	1	NOTCH3	19	15276713	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4940	15276713	43852270	18772	29089											
NOTCH3	4854	broad.mit.edu	37	chr19	15284889	15284889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtcactcacccgatcacctCgggggccagctcccgacggg	13	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15284889C>T	ENST00000263388.2	-	25	4801	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1576					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)			CCGATCACCTCGGGGGCCAGC	0.637																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(4726-4728)Gag>Aag		notch 3							18	25	23					19																	15284889		2171	4259	6430	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15284889C>T	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.4726G>A	19.37:g.15284889C>T	ENSP00000263388:p.Glu1576Lys						p.E1576K	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		25	4801	-			1576					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.4726G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192522	0.58017	.	.	ENSG00000074181	ENST00000263388	T	0.33654	1.4	4.68	4.68	0.58851	Notch, NODP domain (1);	.	.	.	.	T	0.35595	0.0937	L	0.53249	1.67	0.51012	D	0.999904	P	0.42039	0.769	B	0.40199	0.322	T	0.12967	-1.0527	9	0.21540	T	0.41	.	16.3591	0.83246	0.0:1.0:0.0:0.0	.	1576	Q9UM47	NOTC3_HUMAN	K	1576	ENSP00000263388:E1576K	ENSP00000263388:E1576K	E	-	1	0	NOTCH3	15145889	0.999000	0.42202	0.909000	0.35828	0.350000	0.29205	5.378000	0.66190	2.156000	0.67533	0.491000	0.48974	GAG		0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		54	201	0	0	0	1	0	54	201					T	15284889	C	T	15284889	3	4	79	1	0	0	0	0	1	0	0	0	10592	893	31	1	2275	1	NOTCH3	19	15284889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8176	15284889	43844094	18773	29090											
NOTCH3	4854	broad.mit.edu	37	chr19	15291787	15291787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccacctggcactgcgggccCgtgaagctctcgaggcaggt	14	15	1	1	rs545858293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15291787C>T	ENST00000263388.2	-	18	3054	c.2979G>A	c.(2977-2979)acG>acA	p.T993T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	993	EGF-like 25. {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)			ACTGCGGGCCCGTGAAGCTCT	0.682																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2977-2979)acG>acA		notch 3							10	11	11					19																	15291787		2183	4277	6460	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15291787C>T	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.2979G>A	19.37:g.15291787C>T							p.T993T	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		18	3054	-			993			EGF-like 25.		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.2979G>A	CCDS12326.1																																																																																				0.682	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		10	44	0	0	0	1	0	10	44					T	15291787	C	T	15291787	2	4	79	1	0	0	0	0	0	0	0	1	10592	639	23	1		1	NOTCH3	19	15291787	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6898	15291787	43837196	18774	29091											
NOTCH3	4854	broad.mit.edu	37	chr19	15295262	15295262	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgctggcatcgtgggcCtgggggtagggagcaaggtt	18	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15295262C>A	ENST00000263388.2	-	16	2486		c.e16-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						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)			CATCGTGGGCCTGGGGGTAGG	0.622																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93	GRCh37	CS063353	NOTCH3	S		c.e16-1		notch 3							49	45	46					19																	15295262		2203	4300	6503	SO:0001630	splice_region_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15295262C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2411-1G>T	19.37:g.15295262C>A								NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		16	2486	-								Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	ENST00000263388.2	37		CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578469	0.28180	.	.	ENSG00000074181	ENST00000263388	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0482	0.47872	0.0:0.9138:0.0:0.0862	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15156262	1.000000	0.71417	0.749000	0.31150	0.125000	0.20455	6.577000	0.74027	2.420000	0.82092	0.655000	0.94253	.		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435	Intron	35	205	1	0	1.21669e-08	1	1.27369e-08	35	205					A	15295262	C	A	15295262	5	1	79	1	0	0	0	0	0	0	1	0	10592	695	24	3	4627	3	NOTCH3	19	15295262	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3475	15295262	43833721	18775	29092											
NOTCH3	4854	broad.mit.edu	37	chr19	15296115	15296115	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacccattccatcgctgCtgcatgtcccaccggccctg	9	17	0	0	rs370975434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296115C>A	ENST00000263388.2	-	14	2324	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	750	EGF-like 19. {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)			TCCATCGCTGCTGCATGTCCC	0.662																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2248-2250)aGc>aTc		notch 3							54	36	42					19																	15296115		2201	4297	6498	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15296115C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2249G>T	19.37:g.15296115C>A	ENSP00000263388:p.Ser750Ile						p.S750I	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		14	2324	-			750			EGF-like 19.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2249G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509253	0.04231	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.04	0.389	0.16269	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.518457	0.14525	N	0.314219	T	0.28499	0.0705	N	0.10707	0.03	0.24311	N	0.995084	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.10314	-1.0635	10	0.31617	T	0.26	.	1.9816	0.03427	0.1487:0.1388:0.4477:0.2648	.	753;750	Q59FL3;Q9UM47	.;NOTC3_HUMAN	I	750;752	ENSP00000263388:S750I	ENSP00000263388:S750I	S	-	2	0	NOTCH3	15157115	0.125000	0.22332	0.922000	0.36590	0.109000	0.19521	0.849000	0.27723	-0.056000	0.13221	-0.356000	0.07607	AGC		0.662	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		57	211	1	0	9.77569e-14	1	1.05744e-13	57	211					A	15296115	C	A	15296115	3	1	79	1	0	0	0	0	1	0	0	0	10592	797	28	3	4796	3	NOTCH3	19	15296115	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	853	15296115	43832868	18776	29093											
NOTCH3	4854	broad.mit.edu	37	chr19	15296201	15296201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggggccactccagccaggCtcacacacacagcggaacct	11	17	1	0	rs375173938	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296201C>A	ENST00000263388.2	-	14	2238	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	721	EGF-like 18. {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)			TCCAGCCAGGCTCACACACAC	0.692																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(2161-2163)gaG>gaT		notch 3							18	15	16					19																	15296201		2178	4252	6430	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15296201C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2163G>T	19.37:g.15296201C>A	ENSP00000263388:p.Glu721Asp						p.E721D	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		14	2238	-			721			EGF-like 18.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.2163G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	7.088	0.571512	0.13623	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.58940	0.3	5.07	1.76	0.24704	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.256337	0.20577	N	0.089609	T	0.35158	0.0922	L	0.28504	0.86	0.43203	D	0.995058	B;B	0.10296	0.003;0.001	B;B	0.19666	0.016;0.026	T	0.08722	-1.0708	10	0.07175	T	0.84	.	4.3809	0.11293	0.1624:0.59:0.0:0.2476	.	724;721	Q59FL3;Q9UM47	.;NOTC3_HUMAN	D	721;723	ENSP00000263388:E721D	ENSP00000263388:E721D	E	-	3	2	NOTCH3	15157201	0.087000	0.21565	1.000000	0.80357	0.986000	0.74619	-0.638000	0.05452	0.543000	0.28864	0.650000	0.86243	GAG		0.692	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		17	142	1	0	4.14922e-12	1	4.44601e-12	17	142					A	15296201	C	A	15296201	3	1	79	1	0	0	0	0	1	0	0	0	10592	796	28	3	4882	3	NOTCH3	19	15296201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	15296201	43832782	18777	29094											
NOTCH3	4854	broad.mit.edu	37	chr19	15299878	15299878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcagggccccgacagacactCgttgacatcggtctcacagc	11	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15299878C>T	ENST00000263388.2	-	8	1375	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	434	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E434K(1)		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)			GACAGACACTCGTTGACATCG	0.647																																						ENST00000263388.2																			1	Substitution - Missense(1)	p.E434K(1)	upper_aerodigestive_tract(1)	breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(1300-1302)Gag>Aag		notch 3							51	42	45					19																	15299878		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15299878C>T	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.1300G>A	19.37:g.15299878C>T	ENSP00000263388:p.Glu434Lys						p.E434K	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		8	1375	-			434			EGF-like 11; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1300G>A	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	34	5.300635	0.95601	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.98849	-5.18	4.77	4.77	0.60923	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99149	0.9706	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99541	1.0963	9	0.87932	D	0	.	16.582	0.84717	0.0:1.0:0.0:0.0	.	437;434	Q59FL3;Q9UM47	.;NOTC3_HUMAN	K	434;436	ENSP00000263388:E434K	ENSP00000263388:E434K	E	-	1	0	NOTCH3	15160878	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.934000	0.70138	2.202000	0.70862	0.561000	0.74099	GAG		0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		78	220	0	0	0	1	0	78	220					T	15299878	C	T	15299878	3	4	79	1	0	0	0	0	1	0	0	0	10592	893	31	1	5769	1	NOTCH3	19	15299878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3677	15299878	43829105	18778	29095											
EPHX3	79852	broad.mit.edu	37	chr19	15342604	15342604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccagttctcagggaagccGtgcagaaacagcatgagggg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342604G>A	ENST00000221730.3	-	2	532	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_ENST00000602233.1_Silent_p.H104H|EPHX3_ENST00000435261.1_Silent_p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	104						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(310-312)caC>caT		epoxide hydrolase 3							66	69	68					19																	15342604		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15342604G>A	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.312C>T	19.37:g.15342604G>A						EPHX3_ENST00000602233.1_Silent_p.H104H|EPHX3_ENST00000435261.1_Silent_p.H104H	p.H104H	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			2	532	-			104					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.312C>T	CCDS12327.1																																																																																				0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		71	324	0	0	0	1	0	71	324					A	15342604	G	A	15342604	2	1	79	1	0	0	0	0	0	0	0	1	5199	1136	40	1		1	EPHX3	19	15342604	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42726	15342604	43786379	18779	29096											
EPHX3	79852	broad.mit.edu	37	chr19	15342655	15342655	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtccagccgagacatagtgCagacgcaggcccgagctcta	12	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342655C>T	ENST00000221730.3	-	2	481	c.261G>A	c.(259-261)ctG>ctA	p.L87L	EPHX3_ENST00000602233.1_Silent_p.L87L|EPHX3_ENST00000435261.1_Silent_p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	87						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGACATAGTGCAGACGCAGGC	0.667																																						ENST00000221730.3																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(259-261)ctG>ctA		epoxide hydrolase 3							51	53	52					19																	15342655		2203	4300	6503	SO:0001819	synonymous_variant	79852					extracellular region	hydrolase activity	g.chr19:15342655C>T	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.261G>A	19.37:g.15342655C>T						EPHX3_ENST00000602233.1_Silent_p.L87L|EPHX3_ENST00000435261.1_Silent_p.L87L	p.L87L	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN			2	481	-			87					A3KMR3	Silent	SNP	ENST00000221730.3	37	c.261G>A	CCDS12327.1																																																																																				0.667	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	NM_024794		14	351	0	0	0	1	0	14	351					T	15342655	C	T	15342655	2	4	79	1	0	0	0	0	0	0	0	1	5199	697	25	2		2	EPHX3	19	15342655	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	15342655	43786328	18780	29097											
BRD4	23476	broad.mit.edu	37	chr19	15349989	15349989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaactgctcgaagctgtcGctggatgacttggctgtgga	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15349989G>A	ENST00000263377.2	-	18	3884	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1221	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGAAGCTGTCGCTGGATGACT	0.617			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3661-3663)agC>agT		bromodomain containing 4							36	37	36					19																	15349989		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15349989G>A	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.3663C>T	19.37:g.15349989G>A							p.S1221S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		18	3884	-			1221					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.3663C>T	CCDS12328.1																																																																																				0.617	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		13	163	0	0	0	1	0	13	163					A	15349989	G	A	15349989	2	1	79	1	0	0	0	0	0	0	0	1	1508	1078	38	1		1	BRD4	19	15349989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7334	15349989	43778994	18781	29098											
BRD4	23476	broad.mit.edu	37	chr19	15364970	15364970	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtcacctaacctgtttcGgagtcttcgctgtcagagga	10	11	3	1	rs200329089		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15364970G>A	ENST00000263377.2	-	11	2372	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Silent_p.S717S|BRD4_ENST00000360016.5_Silent_p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	717	Ser-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)			AACCTGTTTCGGAGTCTTCGC	0.542			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2149-2151)tcC>tcT		bromodomain containing 4							76	66	70					19																	15364970		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15364970G>A	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.2151C>T	19.37:g.15364970G>A						BRD4_ENST00000360016.5_Silent_p.S717S|BRD4_ENST00000371835.4_Silent_p.S717S	p.S717S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		11	2372	-			717			Ser-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.2151C>T	CCDS12328.1																																																																																				0.542	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		19	199	0	0	0	1	0	19	199					A	15364970	G	A	15364970	2	1	79	1	0	0	0	0	0	0	0	1	1508	1103	39	1		1	BRD4	19	15364970	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14981	15364970	43764013	18782	29099											
BRD4	23476	broad.mit.edu	37	chr19	15365050	15365050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcatcttggaggagcCggcaatcacatcaactttct	8	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15365050C>T	ENST00000263377.2	-	11	2292	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.G691S|BRD4_ENST00000360016.5_Missense_Mutation_p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	691					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)			TTGGAGGAGCCGGCAATCACA	0.572			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2071-2073)Ggc>Agc		bromodomain containing 4							83	72	75					19																	15365050		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15365050C>T	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.2071G>A	19.37:g.15365050C>T	ENSP00000263377:p.Gly691Ser					BRD4_ENST00000360016.5_Missense_Mutation_p.G691S|BRD4_ENST00000371835.4_Missense_Mutation_p.G691S	p.G691S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		11	2292	-			691					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.2071G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	32	5.192950	0.94960	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.40756	1.02;1.02;1.02	5.22	5.22	0.72569	.	0.204699	0.33854	N	0.004493	T	0.54935	0.1889	L	0.52573	1.65	0.48288	D	0.999623	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.58210	0.835;0.752;0.835	T	0.52548	-0.8561	10	0.45353	T	0.12	-24.2424	17.9359	0.89012	0.0:1.0:0.0:0.0	.	691;691;691	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	S	691	ENSP00000263377:G691S;ENSP00000360901:G691S;ENSP00000353112:G691S	ENSP00000263377:G691S	G	-	1	0	BRD4	15226050	1.000000	0.71417	0.984000	0.44739	0.942000	0.58702	6.706000	0.74649	2.608000	0.88229	0.462000	0.41574	GGC		0.572	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		49	187	0	0	0	1	0	49	187					T	15365050	C	T	15365050	3	4	79	1	0	0	0	0	1	0	0	0	1508	652	23	1	2072	1	BRD4	19	15365050	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80	15365050	43763933	18783	29100											
BRD4	23476	broad.mit.edu	37	chr19	15366169	15366169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctccagctcacgcagtgtGgacggcttcagggtctcaaa	12	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15366169G>A	ENST00000263377.2	-	10	2207	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Silent_p.S662S|BRD4_ENST00000360016.5_Silent_p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	662	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				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)			CACGCAGTGTGGACGGCTTCA	0.582			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(1984-1986)tcC>tcT		bromodomain containing 4							78	73	75					19																	15366169		2203	4300	6503	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366169G>A	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.1986C>T	19.37:g.15366169G>A						BRD4_ENST00000360016.5_Silent_p.S662S|BRD4_ENST00000371835.4_Silent_p.S662S	p.S662S	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		10	2207	-			662					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.1986C>T	CCDS12328.1																																																																																				0.582	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		20	363	0	0	0	1	0	20	363					A	15366169	G	A	15366169	2	1	79	1	0	0	0	0	0	0	0	1	1508	1335	47	2		2	BRD4	19	15366169	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1119	15366169	43762814	18784	29101											
BRD4	23476	broad.mit.edu	37	chr19	15375447	15375447	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctttggaggtttcacaGgccggctgctctcccgccgc	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15375447G>A	ENST00000263377.2	-	6	1201	c.980C>T	c.(979-981)cCt>cTt	p.P327L	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.P327L|BRD4_ENST00000360016.5_Missense_Mutation_p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	327					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)			AGGTTTCACAGGCCGGCTGCT	0.652			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(979-981)cCt>cTt		bromodomain containing 4							57	50	52					19																	15375447		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15375447G>A	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.980C>T	19.37:g.15375447G>A	ENSP00000263377:p.Pro327Leu		OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	702	BRD4_ENST00000360016.5_Missense_Mutation_p.P327L|BRD4_ENST00000371835.4_Missense_Mutation_p.P327L	p.P327L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		6	1201	-			327					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.980C>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739736	0.89573	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.37058	1.22;2.93;2.88	5.45	5.45	0.79879	Bromodomain (1);	0.000000	0.64402	D	0.000008	T	0.58090	0.2098	M	0.85542	2.76	0.80722	D	1	D;D;D	0.65815	0.995;0.968;0.987	P;P;P	0.57425	0.82;0.8;0.755	T	0.64487	-0.6396	10	0.66056	D	0.02	-8.4213	13.0701	0.59057	0.0:0.0:0.839:0.161	.	327;327;327	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	327	ENSP00000263377:P327L;ENSP00000360901:P327L;ENSP00000353112:P327L	ENSP00000263377:P327L	P	-	2	0	BRD4	15236447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.791000	0.85805	2.556000	0.86216	0.563000	0.77884	CCT		0.652	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		21	505	0	0	0	1	0	21	505					A	15375447	G	A	15375447	3	1	79	1	0	0	0	0	1	0	0	0	1508	1000	35	2	3183	2	BRD4	19	15375447	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9278	15375447	43753536	18785	29102											
BRD4	23476	broad.mit.edu	37	chr19	15383882	15383882	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttactggcagatttctcaatCtcgtcccagggccgctctcc	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15383882C>A	ENST00000263377.2	-	2	250	c.29G>T	c.(28-30)aGa>aTa	p.R10I	BRD4_ENST00000371835.4_Missense_Mutation_p.R10I|BRD4_ENST00000360016.5_Missense_Mutation_p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	10					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)			ATTTCTCAATCTCGTCCCAGG	0.552			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(28-30)aGa>aTa		bromodomain containing 4							95	96	96					19																	15383882		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15383882C>A	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.29G>T	19.37:g.15383882C>A	ENSP00000263377:p.Arg10Ile					BRD4_ENST00000360016.5_Missense_Mutation_p.R10I|BRD4_ENST00000371835.4_Missense_Mutation_p.R10I	p.R10I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		2	250	-			10					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.29G>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587167	0.86851	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.50813	0.73;2.65;2.48	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	T	0.61739	0.2371	L	0.58101	1.795	0.80722	D	1	D;P;D	0.59767	0.986;0.886;0.982	P;P;P	0.56278	0.731;0.475;0.795	T	0.64394	-0.6418	10	0.87932	D	0	-17.1711	18.2814	0.90099	0.0:1.0:0.0:0.0	.	10;10;10	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	I	10	ENSP00000263377:R10I;ENSP00000360901:R10I;ENSP00000353112:R10I	ENSP00000263377:R10I	R	-	2	0	BRD4	15244882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.649000	0.61433	2.627000	0.88993	0.561000	0.74099	AGA		0.552	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		75	612	1	0	2.25582e-47	1	2.77644e-47	75	612					A	15383882	C	A	15383882	3	1	79	1	0	0	0	0	1	0	0	0	1508	913	32	3	4150	3	BRD4	19	15383882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8435	15383882	43745101	18786	29103											
AKAP8	10270	broad.mit.edu	37	chr19	15484043	15484043	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagctgccattgcggtcGgaccccaggtcgaactcata	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15484043G>A	ENST00000269701.2	-	5	540	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	160					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATTGCGGTCGGACCCCAGGT	0.667																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(478-480)tcC>tcT		A kinase (PRKA) anchor protein 8							31	37	35					19																	15484043		2203	4300	6503	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15484043G>A	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.480C>T	19.37:g.15484043G>A							p.S160S	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	540	-			160						Silent	SNP	ENST00000269701.2	37	c.480C>T	CCDS12329.1																																																																																				0.667	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		48	233	0	0	0	1	0	48	233					A	15484043	G	A	15484043	2	1	79	1	0	0	0	0	0	0	0	1	457	1103	39	1		1	AKAP8	19	15484043	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100161	15484043	43644940	18787	29104											
AKAP8L	26993	broad.mit.edu	37	chr19	15508540	15508540	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgcagaaagtcagcCgtctgcttagggagcttggt	12	11	3	1	rs79796304	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	ENST00000397410.5	-	10	1414	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Silent_p.T367T	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	428						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						GAAAGTCAGCCGTCTGCTTAG	0.502													C|||	12	0.00239617	0.0083	0.0014	5008	,	,		20980	0.0		0.0	False		,,,				2504	0.0					ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(1282-1284)acG>acA		A kinase (PRKA) anchor protein 8-like		C		24,3876		0,24,1926	124	123	123		1284	-10.6	0.1	19	dbSNP_132	123	1,8275		0,1,4137	no	coding-synonymous	AKAP8L	NM_014371.2		0,25,6063	TT,TC,CC		0.0121,0.6154,0.2053		428/647	15508540	25,12151	1950	4138	6088	SO:0001819	synonymous_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15508540C>T	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.1284G>A	19.37:g.15508540C>T						AKAP8L_ENST00000595465.1_Silent_p.T367T	p.T428T	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			10	1348	-			428					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Silent	SNP	ENST00000397410.5	37	c.1284G>A	CCDS46005.1																																																																																				0.502	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		29	364	0	0	0	1	0	29	364					T	15508540	C	T	15508540	2	4	79	1	0	0	0	0	0	0	0	1	458	639	23	1		1	AKAP8L	19	15508540	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24497	15508540	43620443	18788	29105											
AKAP8L	26993	broad.mit.edu	37	chr19	15511996	15511996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaggtcttccaggtccGcctcatctgcttcatgccat	9	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	ENST00000397410.5	-	5	911	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.R200W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	261						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						TTCCAGGTCCGCCTCATCTGC	0.652																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(781-783)Cgg>Tgg		A kinase (PRKA) anchor protein 8-like							124	138	133					19																	15511996		1984	4144	6128	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15511996G>A	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.781C>T	19.37:g.15511996G>A	ENSP00000380557:p.Arg261Trp					AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Missense_Mutation_p.R200W	p.R261W	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			5	845	-			261					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.781C>T	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357158	0.61293	.	.	ENSG00000011243	ENST00000397410	T	0.49139	0.79	4.74	1.06	0.20224	.	0.205156	0.38959	N	0.001507	T	0.49440	0.1557	L	0.34521	1.04	0.35636	D	0.81061	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.70935	0.898;0.953;0.971;0.898	T	0.54234	-0.8324	10	0.40728	T	0.16	-15.2885	7.3019	0.26426	0.0:0.1389:0.301:0.56	.	200;31;261;261	B4DJ74;Q9UF73;B3KMD4;Q9ULX6	.;.;.;AKP8L_HUMAN	W	261	ENSP00000380557:R261W	ENSP00000380557:R261W	R	-	1	2	AKAP8L	15372996	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.672000	0.37523	0.390000	0.25115	0.491000	0.48974	CGG		0.652	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		270	1040	0	0	0	1	0	270	1040					A	15511996	G	A	15511996	3	1	79	1	0	0	0	0	1	0	0	0	458	1086	38	1	1199	1	AKAP8L	19	15511996	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3456	15511996	43616987	18789	29106											
WIZ	58525	broad.mit.edu	37	chr19	15535824	15535824	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagtaaaggccacacagCtcgcagcaggcctcggtggc	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15535824C>A	ENST00000389282.4	-	8	4413	c.4200G>T	c.(4198-4200)gaG>gaT	p.E1400D	WIZ_ENST00000599910.2_Missense_Mutation_p.E717D|WIZ_ENST00000599686.3_Missense_Mutation_p.E584D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D|WIZ_ENST00000263381.7_Missense_Mutation_p.E543D			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1400					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						GGCCACACAGCTCGCAGCAGG	0.687																																						ENST00000389282.4																			0				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						c.(4198-4200)gaG>gaT		widely interspaced zinc finger motifs							7	8	7					19																	15535824		2051	4168	6219	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15535824C>A	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.4200G>T	19.37:g.15535824C>A	ENSP00000373933:p.Glu1400Asp					WIZ_ENST00000263381.6_Missense_Mutation_p.E543D|WIZ_ENST00000599910.1_Missense_Mutation_p.E717D|WIZ_ENST00000599686.2_Missense_Mutation_p.E584D|WIZ_ENST00000545156.1_Missense_Mutation_p.E714D	p.E1400D			O95785	WIZ_HUMAN			8	4413	-			1400					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.4200G>T		.	.	.	.	.	.	.	.	.	.	C	23.5	4.418217	0.83449	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.29142	1.58;1.58;1.58	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.112944	0.64402	D	0.000013	T	0.45498	0.1345	L	0.40543	1.245	0.46317	D	0.998986	D;P;D	0.89917	1.0;0.829;1.0	D;P;D	0.91635	0.998;0.675;0.999	T	0.31336	-0.9947	10	0.54805	T	0.06	-25.1891	12.4141	0.55483	0.0:0.9189:0.0:0.0811	.	1400;543;584	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	D	1400;543;584;714	ENSP00000373933:E1400D;ENSP00000263381:E543D;ENSP00000445824:E714D	ENSP00000263381:E543D	E	-	3	2	WIZ	15396824	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.037000	0.49775	2.614000	0.88457	0.650000	0.86243	GAG		0.687	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		10	48	1	0	7.48243e-07	1	7.73841e-07	10	48					A	15535824	C	A	15535824	3	1	79	1	0	0	0	0	1	0	0	0	17429	796	28	3	767	3	WIZ	19	15535824	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23828	15535824	43593159	18790	29107											
WIZ	58525	broad.mit.edu	37	chr19	15558986	15558986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggtaacgggtggaccGgaagatgccaccttccccct	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15558986G>A	ENST00000389282.4	-	2	346	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MIR1470_ENST00000600745.1_RNA|WIZ_ENST00000263381.7_Missense_Mutation_p.R45W			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	45					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						CGGGTGGACCGGAAGATGCCA	0.647																																						ENST00000389282.4																			0				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						c.(133-135)Cgg>Tgg		widely interspaced zinc finger motifs							64	72	69					19																	15558986		1980	4136	6116	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15558986G>A	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.133C>T	19.37:g.15558986G>A	ENSP00000373933:p.Arg45Trp					WIZ_ENST00000263381.6_Missense_Mutation_p.R45W	p.R45W			O95785	WIZ_HUMAN			2	346	-			45					B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.133C>T		.	.	.	.	.	.	.	.	.	.	G	14.96	2.691988	0.48097	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.03635	3.86	3.67	3.67	0.42095	.	.	.	.	.	T	0.03011	0.0089	.	.	.	0.80722	D	1	P	0.47350	0.894	B	0.31686	0.134	T	0.54569	-0.8274	8	0.62326	D	0.03	-5.3586	11.0863	0.48089	0.0:0.0:1.0:0.0	.	45	O95785-2	.	W	45	ENSP00000373933:R45W	ENSP00000263381:R45W	R	-	1	2	WIZ	15419986	0.986000	0.35501	0.974000	0.42286	0.738000	0.42128	2.482000	0.45224	2.043000	0.60533	0.561000	0.74099	CGG		0.647	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		103	461	0	0	0	1	0	103	461					A	15558986	G	A	15558986	3	1	79	1	0	0	0	0	1	0	0	0	17429	1115	39	1	2279	1	WIZ	19	15558986	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23162	15558986	43569997	18791	29108											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580712	15580712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagccgcgtccctcgtAcacgtagccgtccgagccca	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15580712A>G	ENST00000340880.4	-	4	1852	c.1372T>C	c.(1372-1374)Tac>Cac	p.Y458H	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.Y458H	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	458					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						CGTCCCTCGTACACGTAGCCG	0.706																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1372-1374)Tac>Cac		peptidoglycan recognition protein 2							12	15	14					19																	15580712		2179	4257	6436	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580712A>G	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.1372T>C	19.37:g.15580712A>G	ENSP00000345968:p.Tyr458His					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.Y458H	p.Y458H			Q96PD5	PGRP2_HUMAN			4	1501	-			458					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1372T>C	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691722	0.88735	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.16457	2.34;2.34	5.12	5.12	0.69794	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.90145	3.09	0.51767	D	0.999933	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.58763	-0.7579	10	0.87932	D	0	-23.3948	12.8485	0.57844	1.0:0.0:0.0:0.0	.	458;458	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	H	458	ENSP00000345968:Y458H;ENSP00000292609:Y458H	ENSP00000292609:Y458H	Y	-	1	0	PGLYRP2	15441712	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.939000	0.87685	1.935000	0.56089	0.379000	0.24179	TAC		0.706	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		22	82	0	0	0	1	0	22	82					G	15580712	A	G	15580712	3	3	79	1	0	0	0	0	1	0	0	0	11836	391	14	4	366	4	PGLYRP2	19	15580712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21726	15580712	43548271	18792	29109											
CYP4F8	11283	broad.mit.edu	37	chr19	15733064	15733064	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggccatggagggcagcacCtgtctggatgtgtttgagca	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15733064C>T	ENST00000441682.2	+	0	622							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						AGGGCAGCACCTGTCTGGATG	0.587																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8							59	58	59					19																	15733064		2201	4300	6501			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15733064C>T	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.15733064C>T										P98187	CP4F8_HUMAN			0	622	+									RNA	SNP	ENST00000441682.2	37																																																																																						0.587	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		42	159	0	0	0	1	0	42	159					T	15733064	C	T	15733064	1	4	79	0	1	0	0	0	0	0	0	0	4202	668	24	2		2	CYP4F8	19	15733064	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152352	15733064	43395919	18793	29110											
CYP4F12	66002	broad.mit.edu	37	chr19	15791241	15791241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtgacaagtggagccGccaccgtcggatgctgacgc	16	12	0	2	rs201727887	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791241G>A	ENST00000550308.1	+	5	817	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R146H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	146					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)	p.R146H(1)		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)	AAGTGGAGCCGCCACCGTCGG	0.552													.|||	8	0.00159744	0.003	0.0	5008	,	,		18381	0.004		0.0	False		,,,				2504	0.0					ENST00000550308.1																			1	Substitution - Missense(1)	p.R146H(1)	large_intestine(1)	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						c.(436-438)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 12		G	HIS/ARG	7,4397		0,7,2195	26	30	29		437	-3	0	19		29	2,8592		0,2,4295	no	missense	CYP4F12	NM_023944.3	29	0,9,6490	AA,AG,GG		0.0233,0.1589,0.0692	benign	146/525	15791241	9,12989	2202	4297	6499	SO:0001583	missense	66002							g.chr19:15791241G>A	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.437G>A	19.37:g.15791241G>A	ENSP00000448998:p.Arg146His					CYP4F12_ENST00000324632.9_Missense_Mutation_p.R146H	p.R146H	NM_023944.3	NP_076433.3					5	817	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.437G>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	3.972	-0.008247	0.07727	0.001589	2.33E-4	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69306	-0.39;-0.39	2.92	-2.95	0.05564	.	0.171432	0.39475	N	0.001360	T	0.54983	0.1892	L	0.53249	1.67	0.22693	N	0.998841	B;B	0.28439	0.212;0.031	B;B	0.32465	0.146;0.04	T	0.50575	-0.8812	10	0.44086	T	0.13	.	7.658	0.28386	0.5238:0.0:0.4762:0.0	.	146;146	B4E270;Q9HCS2	.;CP4FC_HUMAN	H	146	ENSP00000448998:R146H;ENSP00000321821:R146H	ENSP00000321821:R146H	R	+	2	0	CYP4F12	15652241	0.000000	0.05858	0.020000	0.16555	0.049000	0.14656	-0.517000	0.06275	-0.303000	0.08856	-0.458000	0.05436	CGC		0.552	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			11	272	0	0	0	1	0	11	272					A	15791241	G	A	15791241	3	1	79	1	0	0	0	0	1	0	0	0	4198	1087	38	1	451	1	CYP4F12	19	15791241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58177	15791241	43337742	18794	29111											
CYP4F12	66002	broad.mit.edu	37	chr19	15791299	15791299	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcctgaagtcctatataacGatcttcaacaagagtgcaaa	6	9	2	2	rs141478890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791299G>A	ENST00000550308.1	+	5	875	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_ENST00000324632.10_Silent_p.T165T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	165					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)	p.T165T(1)		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)	CCTATATAACGATCTTCAACA	0.537																																						ENST00000550308.1																			1	Substitution - coding silent(1)	p.T165T(1)	skin(1)	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						c.(493-495)acG>acA		cytochrome P450, family 4, subfamily F, polypeptide 12							52	52	52					19																	15791299		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15791299G>A	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.495G>A	19.37:g.15791299G>A						CYP4F12_ENST00000324632.9_Silent_p.T165T	p.T165T	NM_023944.3	NP_076433.3					5	875	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.495G>A	CCDS42517.1																																																																																				0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			51	272	0	0	0	1	0	51	272					A	15791299	G	A	15791299	2	1	79	1	0	0	0	0	0	0	0	1	4198	1045	37	1		1	CYP4F12	19	15791299	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	15791299	43337684	18795	29112											
CYP4F12	66002	broad.mit.edu	37	chr19	15794373	15794373	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaagaagccagcatatcCtccagcacatggactttctg	8	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15794373C>A	ENST00000550308.1	+	7	1098	c.718C>A	c.(718-720)Ctc>Atc	p.L240I	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L240I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	240					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)	CCAGCATATCCTCCAGCACAT	0.562																																						ENST00000550308.1																			0				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						c.(718-720)Ctc>Atc		cytochrome P450, family 4, subfamily F, polypeptide 12							78	78	78					19																	15794373		2201	4299	6500	SO:0001583	missense	66002							g.chr19:15794373C>A	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.718C>A	19.37:g.15794373C>A	ENSP00000448998:p.Leu240Ile					CYP4F12_ENST00000324632.9_Missense_Mutation_p.L240I	p.L240I	NM_023944.3	NP_076433.3					7	1098	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.718C>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	6.064	0.380036	0.11466	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.70164	-0.46;-0.46	2.46	1.4	0.22301	.	0.321305	0.24412	U	0.038749	T	0.53449	0.1797	L	0.47190	1.495	0.09310	N	1	B	0.24576	0.106	B	0.31337	0.128	T	0.35500	-0.9786	10	0.22706	T	0.39	.	4.9421	0.13971	0.0:0.69:0.0:0.31	.	240	Q9HCS2	CP4FC_HUMAN	I	240	ENSP00000448998:L240I;ENSP00000321821:L240I	ENSP00000321821:L240I	L	+	1	0	CYP4F12	15655373	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.706000	0.25690	0.477000	0.27464	0.484000	0.47621	CTC		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			125	512	1	0	9.11594e-60	1	1.14538e-59	125	512					A	15794373	C	A	15794373	3	1	79	1	0	0	0	0	1	0	0	0	4198	681	24	3	740	3	CYP4F12	19	15794373	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3074	15794373	43334610	18796	29113											
CYP4F12	66002	broad.mit.edu	37	chr19	15807727	15807727	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgcctgcaggaactgcatCgggcaggcgttcgccatggc	14	15	0	0	rs374923776		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15807727C>T	ENST00000550308.1	+	13	1787	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F12_ENST00000324632.10_Silent_p.I469I	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	469					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)	GGAACTGCATCGGGCAGGCGT	0.637																																						ENST00000550308.1																			0				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						c.(1405-1407)atC>atT		cytochrome P450, family 4, subfamily F, polypeptide 12		C		0,4406		0,0,2203	34	32	33		1407	-4.6	0.6	19		33	1,8599		0,1,4299	no	coding-synonymous	CYP4F12	NM_023944.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		469/525	15807727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15807727C>T	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.1407C>T	19.37:g.15807727C>T						CYP4F12_ENST00000324632.9_Silent_p.I469I	p.I469I	NM_023944.3	NP_076433.3					13	1787	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1407C>T	CCDS42517.1																																																																																				0.637	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			38	151	0	0	0	1	0	38	151					T	15807727	C	T	15807727	2	4	79	1	0	0	0	0	0	0	0	1	4198	874	31	1		1	CYP4F12	19	15807727	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13354	15807727	43321256	18797	29114											
OR10H3	26532	broad.mit.edu	37	chr19	15852477	15852477	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctgctcttcacccatcgttCcatcacctttgtggcttgtg	7	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852477C>T	ENST00000305892.1	+	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	92						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)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACCCATCGTTCCATCACCTTT	0.502																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(274-276)tCc>tTc		olfactory receptor, family 10, subfamily H, member 3							547	456	487					19																	15852477		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852477C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.275C>T	19.37:g.15852477C>T	ENSP00000307130:p.Ser92Phe						p.S92F	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	275	+			92					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.275C>T	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	7.105	0.574859	0.13623	.	.	ENSG00000171936	ENST00000305892	T	0.00605	6.27	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.608641	0.13515	U	0.382145	T	0.01320	0.0043	M	0.69358	2.11	0.09310	N	1	P	0.49185	0.92	P	0.52909	0.713	T	0.48186	-0.9057	10	0.87932	D	0	.	6.3262	0.21244	0.2945:0.7055:0.0:0.0	.	92	O60404	O10H3_HUMAN	F	92	ENSP00000307130:S92F	ENSP00000307130:S92F	S	+	2	0	OR10H3	15713477	0.092000	0.21681	0.067000	0.19924	0.087000	0.18053	0.648000	0.24828	1.320000	0.45209	0.185000	0.17295	TCC		0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			319	1437	0	0	0	1	0	319	1437					T	15852477	C	T	15852477	3	4	79	1	0	0	0	0	1	0	0	0	10949	855	30	2	277	2	OR10H3	19	15852477	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44750	15852477	43276506	18798	29115											
OR10H3	26532	broad.mit.edu	37	chr19	15852562	15852562	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccttctcatggtcatgggCtatgatcactacgtgaccat	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852562C>T	ENST00000305892.1	+	1	360	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	120						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)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTCATGGGCTATGATCACT	0.522																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(358-360)ggC>ggT		olfactory receptor, family 10, subfamily H, member 3							344	277	300					19																	15852562		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852562C>T		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.360C>T	19.37:g.15852562C>T							p.G120G	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	360	+			120					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.360C>T	CCDS12334.1																																																																																				0.522	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			204	907	0	0	0	1	0	204	907					T	15852562	C	T	15852562	2	4	79	1	0	0	0	0	0	0	0	1	10949	784	28	2		2	OR10H3	19	15852562	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	85	15852562	43276421	18799	29116											
CYP4F2	8529	broad.mit.edu	37	chr19	15990414	15990414	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagagaggggccccgcacCtcagggtccggccacacagc	14	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	ENST00000221700.6	-	11	1409	c.1314G>T	c.(1312-1314)gaG>gaT	p.E438D		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCCCCGCACCTCAGGGTCCG	0.562																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.e11+1		cytochrome P450, family 4, subfamily F, polypeptide 2							90	100	96					19																	15990414		2203	4300	6503	SO:0001630	splice_region_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990414C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1314+1G>T	19.37:g.15990414C>A						CYP4F2_ENST00000592328.1_Splice_Site_p.E438_splice	p.E438_splice	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			11	1409	-			438						Splice_Site	SNP	ENST00000221700.6	37	c.1314_splice	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.571	1.120908	0.20877	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72835	-0.69	2.78	2.78	0.32641	.	0.306318	0.25801	U	0.028219	T	0.66470	0.2792	L	0.49256	1.55	0.80722	D	1	B	0.26902	0.163	B	0.37451	0.25	T	0.62277	-0.6888	9	.	.	.	.	11.279	0.49184	0.0:1.0:0.0:0.0	.	438	P78329	CP4F2_HUMAN	D	438;289	ENSP00000221700:E438D	.	E	-	3	2	CYP4F2	15851414	1.000000	0.71417	0.991000	0.47740	0.241000	0.25554	1.513000	0.35823	1.528000	0.49103	0.491000	0.48974	GAG		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	Missense_Mutation	107	616	1	0	3.10586e-51	1	3.85317e-51	107	616					A	15990414	C	A	15990414	5	1	79	1	0	0	0	0	0	0	1	0	4199	695	24	3	260	3	CYP4F2	19	15990414	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137852	15990414	43138569	18800	29117											
CYP4F2	8529	broad.mit.edu	37	chr19	15990671	15990671	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccgcaggctctccttcatGcacatggtcaggaagggcaa	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990671G>T	ENST00000221700.6	-	10	1247	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCTCCTTCATGCACATGGTCA	0.587																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1150-1152)tgC>tgA		cytochrome P450, family 4, subfamily F, polypeptide 2							99	103	102					19																	15990671		2203	4300	6503	SO:0001587	stop_gained	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990671G>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1152C>A	19.37:g.15990671G>T	ENSP00000221700:p.Cys384*					CYP4F2_ENST00000592328.1_Nonsense_Mutation_p.C384*	p.C384*	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			10	1247	-			384						Nonsense_Mutation	SNP	ENST00000221700.6	37	c.1152C>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	17.83	3.486683	0.63962	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	.	.	.	2.78	0.58	0.17402	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.332	0.21274	0.2863:0.0:0.7137:0.0	.	.	.	.	X	384;235	.	ENSP00000221700:C384X	C	-	3	2	CYP4F2	15851671	1.000000	0.71417	0.985000	0.45067	0.434000	0.31775	3.838000	0.55828	0.469000	0.27268	0.491000	0.48974	TGC		0.587	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		26	749	1	0	2.4375e-19	1	2.7179e-19	26	749					T	15990671	G	T	15990671	4	4	79	1	0	0	0	0	0	1	0	0	4199	1311	46	3	426	3	CYP4F2	19	15990671	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	257	15990671	43138312	18801	29118											
CYP4F2	8529	broad.mit.edu	37	chr19	15997079	15997079	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataaaggtgtcagcttctgCtcttatgtcctcatcagata	7	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	ENST00000221700.6	-	8	1053	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAGCTTCTGCTCTTATGTCC	0.557																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(958-960)Gca>Tca		cytochrome P450, family 4, subfamily F, polypeptide 2							207	211	210					19																	15997079		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15997079C>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.958G>T	19.37:g.15997079C>A	ENSP00000221700:p.Ala320Ser					CYP4F2_ENST00000592328.1_Missense_Mutation_p.A320S|CYP4F2_ENST00000011989.7_Intron	p.A320S	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			8	1053	-			320						Missense_Mutation	SNP	ENST00000221700.6	37	c.958G>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	17.59	3.427758	0.62733	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71934	-0.61	2.73	2.73	0.32206	.	0.000000	0.64402	U	0.000006	T	0.80768	0.4686	M	0.69523	2.12	0.49299	D	0.999777	D	0.76494	0.999	D	0.81914	0.995	T	0.82456	-0.0448	10	0.72032	D	0.01	.	11.1798	0.48620	0.0:1.0:0.0:0.0	.	320	P78329	CP4F2_HUMAN	S	320;171	ENSP00000221700:A320S	ENSP00000221700:A320S	A	-	1	0	CYP4F2	15858079	0.999000	0.42202	0.917000	0.36280	0.680000	0.39746	4.503000	0.60407	1.500000	0.48636	0.313000	0.20887	GCA		0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		292	1286	1	0	7.85725e-59	1	9.86004e-59	292	1286					A	15997079	C	A	15997079	3	1	79	1	0	0	0	0	1	0	0	0	4199	797	28	3	628	3	CYP4F2	19	15997079	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6408	15997079	43131904	18802	29119											
CYP4F11	57834	broad.mit.edu	37	chr19	16034677	16034677	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttggactttgccttgttcTtgaggaaatcatcaataccc	7	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	ENST00000402119.4	-	6	1289	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Missense_Mutation_p.K288T|CYP4F11_ENST00000248041.8_Missense_Mutation_p.K288T	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						TGCCTTGTTCTTGAGGAAATC	0.517																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(862-864)aAg>aCg		cytochrome P450, family 4, subfamily F, polypeptide 11							128	120	123					19																	16034677		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16034677T>G	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.863A>C	19.37:g.16034677T>G	ENSP00000384588:p.Lys288Thr					CYP4F11_ENST00000402119.3_Missense_Mutation_p.K288T|CYP4F11_ENST00000248041.7_Missense_Mutation_p.K288T	p.K288T			Q9HBI6	CP4FB_HUMAN			6	864	-			288						Missense_Mutation	SNP	ENST00000402119.4	37	c.863A>C	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	t	13.56	2.275051	0.40194	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.69806	-0.43;-0.43;0.09	2.67	0.362	0.16113	.	0.189124	0.31347	U	0.007806	T	0.53367	0.1792	L	0.35854	1.095	0.09310	N	1	B;B	0.24675	0.109;0.079	B;B	0.35727	0.209;0.141	T	0.49679	-0.8914	10	0.59425	D	0.04	.	3.7117	0.08423	0.0:0.1429:0.2268:0.6303	.	288;288	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	288	ENSP00000384588:K288T;ENSP00000248041:K288T;ENSP00000319859:K288T	ENSP00000248041:K288T	K	-	2	0	CYP4F11	15895677	0.887000	0.30362	0.029000	0.17559	0.308000	0.27856	1.765000	0.38481	0.216000	0.20781	0.254000	0.18369	AAG		0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		167	680	0	0	0	1	0	167	680					G	16034677	T	G	16034677	3	3	79	1	0	0	0	0	1	0	0	0	4197	1609	56	4	739	4	CYP4F11	19	16034677	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	37598	16034677	43094306	18803	29120											
RAB8A	4218	broad.mit.edu	37	chr19	16232605	16232605	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggacgatcacaacggcctaCtacaggggtgcaatggtagg	14	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16232605C>A	ENST00000300935.3	+	3	504	c.231C>A	c.(229-231)taC>taA	p.Y77*	RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*|CTD-2231E14.8_ENST00000597983.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	77					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CAACGGCCTACTACAGGGGTG	0.448																																						ENST00000300935.3																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						c.(229-231)taC>taA		RAB8A, member RAS oncogene family							224	191	202					19																	16232605		2203	4300	6503	SO:0001587	stop_gained	4218				cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding	g.chr19:16232605C>A		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"RAB, member RAS oncogene"	7007	protein-coding gene	gene with protein product		165040	"mel transforming oncogene (derived from cell line NK14)"	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.231C>A	19.37:g.16232605C>A	ENSP00000300935:p.Tyr77*					RAB8A_ENST00000586682.1_Nonsense_Mutation_p.Y77*	p.Y77*	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN			3	504	+			77					B4DEK7|P24407|Q6FHV5	Nonsense_Mutation	SNP	ENST00000300935.3	37	c.231C>A	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382872	0.95967	.	.	ENSG00000167461	ENST00000300935	.	.	.	4.6	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1928	0.31379	0.0:0.8137:0.0:0.1863	.	.	.	.	X	77	.	ENSP00000300935:Y77X	Y	+	3	2	RAB8A	16093605	0.997000	0.39634	1.000000	0.80357	0.536000	0.34869	0.511000	0.22739	0.942000	0.37525	0.305000	0.20034	TAC		0.448	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		84	368	1	0	3.90494e-43	1	4.76426e-43	84	368					A	16232605	C	A	16232605	4	1	79	1	0	0	0	0	0	1	0	0	13006	576	20	3	241	3	RAB8A	19	16232605	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	197928	16232605	42896378	18804	29121											
AP1M1	8907	broad.mit.edu	37	chr19	16314368	16314368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggggatgctgtcGcccatcctggcccacggggg	19	11	0	0	rs146062531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16314368G>A	ENST00000291439.3	+	2	590	c.141G>A	c.(139-141)tcG>tcA	p.S47S	AP1M1_ENST00000444449.2_Silent_p.S47S|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000429941.2_Silent_p.S47S|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	47					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						GGATGCTGTCGCCCATCCTGG	0.597																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(139-141)tcG>tcA		adaptor-related protein complex 1, mu 1 subunit		G	,	3,4403	6.2+/-15.9	0,3,2200	95	85	88		141,141	-9.2	0.2	19	dbSNP_134	88	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AP1M1	NM_001130524.1,NM_032493.3	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	47/436,47/424	16314368	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314368G>A		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.141G>A	19.37:g.16314368G>A						AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000429941.2_Silent_p.S47S|AP1M1_ENST00000444449.2_Silent_p.S47S	p.S47S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			2	590	+			47					Q4TTY5	Silent	SNP	ENST00000291439.3	37	c.141G>A	CCDS12342.1																																																																																				0.597	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		60	336	0	0	0	1	0	60	336					A	16314368	G	A	16314368	2	1	79	1	0	0	0	0	0	0	0	1	734	1074	38	1		1	AP1M1	19	16314368	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81763	16314368	42814615	18805	29122											
AP1M1	8907	broad.mit.edu	37	chr19	16339685	16339685	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagacgacggtggggagCgttaagtgggtccccgagaa	16	8	1	2	rs532714925		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16339685C>T	ENST00000291439.3	+	9	1442	c.993C>T	c.(991-993)agC>agT	p.S331S	AP1M1_ENST00000444449.2_Silent_p.S343S|AP1M1_ENST00000590756.1_Silent_p.S259S|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000541844.1_Silent_p.S259S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	331	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGGTGGGGAGCGTTAAGTGGG	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19720	0.0		0.0	False		,,,				2504	0.0					ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(991-993)agC>agT		adaptor-related protein complex 1, mu 1 subunit							226	135	166					19																	16339685		2203	4300	6503	SO:0001819	synonymous_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16339685C>T		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.993C>T	19.37:g.16339685C>T						AP1M1_ENST00000590756.1_Silent_p.S259S|AP1M1_ENST00000541844.1_Silent_p.S259S|AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000444449.2_Silent_p.S343S	p.S331S	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN			9	1442	+			331			MHD.		Q4TTY5	Silent	SNP	ENST00000291439.3	37	c.993C>T	CCDS12342.1																																																																																				0.587	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		54	186	0	0	0	1	0	54	186					T	16339685	C	T	16339685	2	4	79	1	0	0	0	0	0	0	0	1	734	767	27	1		1	AP1M1	19	16339685	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25317	16339685	42789298	18806	29123											
C19orf44	84167	broad.mit.edu	37	chr19	16611708	16611708	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagaaatcagaaacttccaGatcagtagaaatcttaccaa	6	8	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16611708G>T	ENST00000221671.3	+	2	261	c.105G>T	c.(103-105)caG>caT	p.Q35H	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.Q35H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	35										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAAACTTCCAGATCAGTAGAA	0.408																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(103-105)caG>caT		chromosome 19 open reading frame 44							84	85	85					19																	16611708		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16611708G>T	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.105G>T	19.37:g.16611708G>T	ENSP00000221671:p.Gln35His					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.Q35H	p.Q35H	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	261	+			35					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.105G>T	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883737	0.17467	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.05	-4.18	0.03846	.	1.755690	0.02950	N	0.141525	T	0.30510	0.0767	L	0.43152	1.355	0.09310	N	1	B;B	0.20052	0.001;0.041	B;B	0.19666	0.003;0.026	T	0.23154	-1.0196	9	0.66056	D	0.02	-0.1142	0.3547	0.00355	0.3523:0.2491:0.1717:0.2269	.	35;35	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	H	35	.	ENSP00000221671:Q35H	Q	+	3	2	C19orf44	16472708	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.413000	0.07123	-0.666000	0.05310	-0.302000	0.09304	CAG		0.408	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		45	515	1	0	2.35958e-20	1	2.64308e-20	45	515					T	16611708	G	T	16611708	3	4	79	1	0	0	0	0	1	0	0	0	1934	933	33	3	107	3	C19orf44	19	16611708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272023	16611708	42517275	18807	29124											
C19orf44	84167	broad.mit.edu	37	chr19	16612313	16612313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaaaacacgaatcaagGcttcagcagcgctaacgtca	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16612313G>A	ENST00000221671.3	+	2	866	c.710G>A	c.(709-711)gGc>gAc	p.G237D	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G237D	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	237										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACGAATCAAGGCTTCAGCAGC	0.333																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(709-711)gGc>gAc		chromosome 19 open reading frame 44							58	60	59					19																	16612313		2200	4299	6499	SO:0001583	missense	84167							g.chr19:16612313G>A	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.710G>A	19.37:g.16612313G>A	ENSP00000221671:p.Gly237Asp					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G237D	p.G237D	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			2	866	+			237					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.710G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681165	0.29872	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.0	1.09	0.20402	.	0.908465	0.09154	N	0.841061	T	0.37972	0.1023	L	0.54323	1.7	0.09310	N	1	P;D	0.58268	0.931;0.982	P;P	0.56514	0.602;0.8	T	0.29761	-1.0001	9	0.06494	T	0.89	-4.9827	3.6107	0.08060	0.0973:0.1415:0.5473:0.2139	.	237;237	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	D	237	.	ENSP00000221671:G237D	G	+	2	0	C19orf44	16473313	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.037000	0.12164	0.580000	0.29522	0.655000	0.94253	GGC		0.333	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		65	354	0	0	0	1	0	65	354					A	16612313	G	A	16612313	3	1	79	1	0	0	0	0	1	0	0	0	1934	1203	42	2	712	2	C19orf44	19	16612313	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	605	16612313	42516670	18808	29125											
C19orf44	84167	broad.mit.edu	37	chr19	16617541	16617541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatattttatcgcttgacGgtctggctccagctgtcagt	9	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16617541G>A	ENST00000221671.3	+	4	1261	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G369S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	369										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATCGCTTGACGGTCTGGCTCC	0.323																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1105-1107)Ggt>Agt		chromosome 19 open reading frame 44							45	49	48					19																	16617541		2202	4299	6501	SO:0001583	missense	84167							g.chr19:16617541G>A	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.1105G>A	19.37:g.16617541G>A	ENSP00000221671:p.Gly369Ser					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G369S	p.G369S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			4	1261	+			369					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1105G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.543953	0.27563	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.18	2.01	0.26516	.	0.236450	0.31495	N	0.007554	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B;B;B	0.13594	0.0;0.0;0.008	B;B;B	0.01281	0.0;0.0;0.0	T	0.17349	-1.0372	9	0.66056	D	0.02	-11.7623	7.131	0.25502	0.096:0.1721:0.7319:0.0	.	369;42;369	Q9H6X5;B4DN63;Q9H6X5-2	CS044_HUMAN;.;.	S	369	.	ENSP00000221671:G369S	G	+	1	0	C19orf44	16478541	0.846000	0.29590	0.000000	0.03702	0.000000	0.00434	2.051000	0.41307	0.360000	0.24265	-1.058000	0.02302	GGT		0.323	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		12	144	0	0	0	1	0	12	144					A	16617541	G	A	16617541	3	1	79	1	0	0	0	0	1	0	0	0	1934	1116	39	1	1115	1	C19orf44	19	16617541	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5228	16617541	42511442	18809	29126											
C19orf44	84167	broad.mit.edu	37	chr19	16623887	16623887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggacccgacacccatcGccaatcatgttatcagtgca	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16623887G>A	ENST00000221671.3	+	6	1858	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	568										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACACCCATCGCCAATCATGT	0.572																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1702-1704)Gcc>Acc		chromosome 19 open reading frame 44							45	43	44					19																	16623887		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16623887G>A	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.1702G>A	19.37:g.16623887G>A	ENSP00000221671:p.Ala568Thr					CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Intron	p.A568T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			6	1858	+			568					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1702G>A	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.110111	0.77210	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.21	4.16	0.48862	.	0.063724	0.64402	D	0.000011	T	0.78585	0.4306	M	0.80746	2.51	0.40483	D	0.980463	D	0.89917	1.0	D	0.72625	0.978	T	0.82404	-0.0474	9	0.87932	D	0	-19.066	13.2796	0.60207	0.0:0.1588:0.8412:0.0	.	568	Q9H6X5	CS044_HUMAN	T	568	.	ENSP00000221671:A568T	A	+	1	0	C19orf44	16484887	1.000000	0.71417	0.954000	0.39281	0.568000	0.35870	5.985000	0.70556	1.207000	0.43291	0.645000	0.84053	GCC		0.572	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		56	239	0	0	0	1	0	56	239					A	16623887	G	A	16623887	3	1	79	1	0	0	0	0	1	0	0	0	1934	1087	38	1	1720	1	C19orf44	19	16623887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6346	16623887	42505096	18810	29127											
CHERP	10523	broad.mit.edu	37	chr19	16641582	16641582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccggggcccacgcacccGggcgatcttctgctgcttgt	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16641582G>A	ENST00000198939.6	-	6	853	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.R262W					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCACGCACCCGGGCGATCTTC	0.697																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(784-786)Cgg>Tgg		calcium homeostasis endoplasmic reticulum protein							35	42	40					19																	16641582		1923	4121	6044	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16641582G>A	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.817C>T	19.37:g.16641582G>A	ENSP00000198939:p.Arg273Trp					CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R273W	p.R262W	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			6	935	-			262			CID.			Missense_Mutation	SNP	ENST00000198939.6	37	c.784C>T		.	.	.	.	.	.	.	.	.	.	G	19.11	3.763163	0.69763	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.50277	0.75;0.75	5.07	4.0	0.46444	ENTH/VHS (2);RNA polymerase II, large subunit, CTD (2);Domain of unknown function DUF618 (1);	.	.	.	.	T	0.55130	0.1901	L	0.29908	0.895	0.51233	D	0.999911	D	0.89917	1.0	D	0.78314	0.991	T	0.58601	-0.7608	9	0.87932	D	0	-35.1449	12.3355	0.55065	0.0:0.0:0.6762:0.3238	.	262	Q8IWX8	CHERP_HUMAN	W	262;273	ENSP00000439856:R262W;ENSP00000198939:R273W	ENSP00000198939:R273W	R	-	1	2	CHERP	16502582	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.209000	0.42806	1.104000	0.41587	0.462000	0.41574	CGG		0.697	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		78	344	0	0	0	1	0	78	344					A	16641582	G	A	16641582	3	1	79	1	0	0	0	0	1	0	0	0	3345	1115	39	1	2014	1	CHERP	19	16641582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17695	16641582	42487401	18811	29128											
SLC35E1	79939	broad.mit.edu	37	chr19	16677435	16677435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccaggatgttgagcaGccggagatggtggatccgtg	17	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16677435G>A	ENST00000595753.1	-	4	681	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CTD-3222D19.10_ENST00000597851.1_RNA|CTD-3222D19.2_ENST00000409035.1_Silent_p.G415G|SLC35E1_ENST00000431408.1_Silent_p.L66L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	222					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						ATGTTGAGCAGCCGGAGATGG	0.537																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(664-666)Ctg>Ttg		solute carrier family 35, member E1							92	89	90					19																	16677435		2203	4300	6503	SO:0001819	synonymous_variant	79939				transport	integral to membrane		g.chr19:16677435G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.664C>T	19.37:g.16677435G>A						SLC35E1_ENST00000431408.1_Silent_p.L66L|CTD-3222D19.2_ENST00000409035.1_Silent_p.G415G	p.L222L	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			4	681	-			222					Q8NBQ2|Q96JV7	Silent	SNP	ENST00000595753.1	37	c.664C>T	CCDS12346.2																																																																																				0.537	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		70	315	0	0	0	1	0	70	315					A	16677435	G	A	16677435	2	1	79	1	0	0	0	0	0	0	0	1	14634	962	34	2		2	SLC35E1	19	16677435	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35853	16677435	42451548	18812	29129											
MED26	9441	broad.mit.edu	37	chr19	16687637	16687637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcacactgggctttccGcactgggcagcagctcgagc	13	15	0	0	rs200735730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16687637G>A	ENST00000263390.3	-	3	1266	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A343V|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	335					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGGCTTTCCGCACTGGGCAG	0.721																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(1003-1005)gCg>gTg		mediator complex subunit 26							8	10	9					19																	16687637		2137	4180	6317	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687637G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1004C>T	19.37:g.16687637G>A	ENSP00000263390:p.Ala335Val					CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A343V	p.A335V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1266	-			335					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.1004C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.105413	0.01828	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.71	2.07	0.26955	.	0.970172	0.08544	N	0.929988	T	0.28995	0.0720	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.22173	-1.0224	9	0.42905	T	0.14	-1.9742	9.9712	0.41754	0.0912:0.1435:0.7654:0.0	.	335	O95402	MED26_HUMAN	V	335	.	ENSP00000263390:A335V	A	-	2	0	MED26	16548637	0.002000	0.14202	0.001000	0.08648	0.011000	0.07611	1.407000	0.34657	0.944000	0.37579	0.478000	0.44815	GCG		0.721	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		38	113	0	0	0	1	0	38	113					A	16687637	G	A	16687637	3	1	79	1	0	0	0	0	1	0	0	0	9485	1087	38	1	802	1	MED26	19	16687637	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10202	16687637	42441346	18813	29130											
MED26	9441	broad.mit.edu	37	chr19	16688235	16688235	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccagccgctgcccgggcaGcctctggaggtcattgcggc	15	15	2	0	rs567636032		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688235G>A	ENST00000263390.3	-	3	668	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	CTD-3222D19.2_ENST00000409035.1_Silent_p.L144L|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	136					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCGGGCAGCCTCTGGAGG	0.711																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(406-408)Ctg>Ttg		mediator complex subunit 26							6	9	8					19																	16688235		2070	4030	6100	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688235G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.406C>T	19.37:g.16688235G>A						CTD-3222D19.2_ENST00000409035.1_Silent_p.L144L	p.L136L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	668	-			136					A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.406C>T	CCDS12347.1																																																																																				0.711	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		36	157	0	0	0	1	0	36	157					A	16688235	G	A	16688235	2	1	79	1	0	0	0	0	0	0	0	1	9485	962	34	2		2	MED26	19	16688235	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	598	16688235	42440748	18814	29131											
MED26	9441	broad.mit.edu	37	chr19	16688461	16688461	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgttcttggttttcttgcgGacgtcgttgatgagcttccc	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688461G>A	ENST00000263390.3	-	3	442	c.180C>T	c.(178-180)gtC>gtT	p.V60V	CTD-3222D19.2_ENST00000409035.1_Silent_p.V68V|CTC-429P9.4_ENST00000593962.1_5'UTR	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	60	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTTTCTTGCGGACGTCGTTGA	0.567																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(178-180)gtC>gtT		mediator complex subunit 26							49	54	52					19																	16688461		2203	4300	6503	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16688461G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.180C>T	19.37:g.16688461G>A						CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Silent_p.V68V	p.V60V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	442	-			60			TFIIS N-terminal.		A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.180C>T	CCDS12347.1																																																																																				0.567	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		12	463	0	0	0	1	0	12	463					A	16688461	G	A	16688461	2	1	79	1	0	0	0	0	0	0	0	1	9485	1161	41	2		2	MED26	19	16688461	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	226	16688461	42440522	18815	29132											
TMEM38A	79041	broad.mit.edu	37	chr19	16791297	16791297	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtggccatgaaggaggTggtgcgagtccgcaagatcg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16791297T>G	ENST00000187762.2	+	3	462	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	124						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATGAAGGAGGTGGTGCGAGTC	0.542																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(370-372)gTg>gGg		transmembrane protein 38A							207	191	197					19																	16791297		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16791297T>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.371T>G	19.37:g.16791297T>G	ENSP00000187762:p.Val124Gly						p.V124G	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			3	462	+			124					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.371T>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	t	25.8	4.675985	0.88445	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82824	-0.0266	9	0.87932	D	0	-30.6057	14.1028	0.65068	0.0:0.0:0.0:1.0	.	124	Q9H6F2	TM38A_HUMAN	G	124	.	ENSP00000187762:V124G	V	+	2	0	TMEM38A	16652297	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.903000	0.87398	1.991000	0.58162	0.459000	0.35465	GTG		0.542	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		245	1012	0	0	0	1	0	245	1012					G	16791297	T	G	16791297	3	3	79	1	0	0	0	0	1	0	0	0	16211	1696	59	4	381	4	TMEM38A	19	16791297	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	102836	16791297	42337686	18816	29133											
NWD1	284434	broad.mit.edu	37	chr19	16899861	16899861	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcaaaggattacacgCtgcacttgtggaacttactc	8	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16899861C>T	ENST00000552788.1	+	11	2800	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000379808.3_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000524140.2_Silent_p.L934L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	934							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						GGATTACACGCTGCACTTGTG	0.493																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2800-2802)Ctg>Ttg		NACHT and WD repeat domain containing 1							114	111	112					19																	16899861		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16899861C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2800C>T	19.37:g.16899861C>T						NWD1_ENST00000552788.1_Silent_p.L934L|NWD1_ENST00000523826.1_Silent_p.L728L|NWD1_ENST00000549814.1_Silent_p.L934L|NWD1_ENST00000339803.6_Silent_p.L799L|NWD1_ENST00000379808.3_Silent_p.L934L	p.L934L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			13	3218	+			934					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.2800C>T																																																																																					0.493	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		94	324	0	0	0	1	0	94	324					T	16899861	C	T	16899861	2	4	79	1	0	0	0	0	0	0	0	1	10823	796	28	2		2	NWD1	19	16899861	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108564	16899861	42229122	18817	29134											
NWD1	284434	broad.mit.edu	37	chr19	16905360	16905360	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgagtccctcctcgcCgcaggtagcgtttagctctc	11	13	1	2	rs201898485		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16905360C>T	ENST00000552788.1	+	13	3300	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000524140.2_Silent_p.A1100A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCCTCGCCGCAGGTAGCG	0.547																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3298-3300)gcC>gcT		NACHT and WD repeat domain containing 1							83	65	71					19																	16905360		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16905360C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3300C>T	19.37:g.16905360C>T						NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000379808.3_Silent_p.A1100A	p.A1100A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			15	3718	+			1100					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3300C>T																																																																																					0.547	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		8	52	0	0	0	1	0	8	52					T	16905360	C	T	16905360	2	4	79	1	0	0	0	0	0	0	0	1	10823	639	23	1		1	NWD1	19	16905360	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5499	16905360	42223623	18818	29135											
NWD1	284434	broad.mit.edu	37	chr19	16926085	16926085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttggagtcagaaagtgCccagggaaatgaaaccaaat	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16926085C>T	ENST00000552788.1	+	18	4640	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000524140.2_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1547							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						TCAGAAAGTGCCCAGGGAAAT	0.458																																						ENST00000552788.1																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4639-4641)gCc>gTc		NACHT and WD repeat domain containing 1							44	38	40					19																	16926085		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16926085C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4640C>T	19.37:g.16926085C>T	ENSP00000447224:p.Ala1547Val					NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000523826.1_Missense_Mutation_p.A1341V|NWD1_ENST00000549814.1_Missense_Mutation_p.A1505V|NWD1_ENST00000339803.6_Missense_Mutation_p.A1412V|NWD1_ENST00000379808.3_3'UTR	p.A1547V			Q149M9	NWD1_HUMAN			18	4640	+			1547					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.4640C>T		.	.	.	.	.	.	.	.	.	.	C	10.27	1.305035	0.23736	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T	0.57595	0.51;0.39;0.45;0.45	4.86	2.67	0.31697	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B;B	0.17038	0.011;0.02	B;B	0.12156	0.005;0.007	T	0.24548	-1.0157	8	0.02654	T	1	.	7.5034	0.27530	0.0:0.7179:0.0:0.2821	.	1547;1412	Q149M9;C9J2Y8	NWD1_HUMAN;.	V	1412;1505;1341;1547;1412	ENSP00000447548:A1505V;ENSP00000428955:A1341V;ENSP00000447224:A1547V;ENSP00000340159:A1412V	ENSP00000340159:A1412V	A	+	2	0	NWD1	16787085	0.000000	0.05858	0.006000	0.13384	0.207000	0.24258	0.034000	0.13776	1.169000	0.42739	0.650000	0.86243	GCC		0.458	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		24	177	0	0	0	1	0	24	177					T	16926085	C	T	16926085	3	4	79	1	0	0	0	0	1	0	0	0	10823	739	26	2	4297	2	NWD1	19	16926085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20725	16926085	42202898	18819	29136											
SIN3B	23309	broad.mit.edu	37	chr19	16977334	16977334	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggccctgcgctccaagagCttgctcaacgagatcgagag	12	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16977334C>T	ENST00000248054.5	+	12	1794	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000379803.1_Silent_p.S623S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTCCAAGAGCTTGCTCAACG	0.622																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1867-1869)agC>agT		SIN3 transcription regulator family member B							137	97	111					19																	16977334		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16977334C>T	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.1773C>T	19.37:g.16977334C>T						SIN3B_ENST00000595541.1_Silent_p.S181S|SIN3B_ENST00000248054.5_Silent_p.S591S	p.S623S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			13	1883	+			623						Silent	SNP	ENST00000248054.5	37	c.1869C>T																																																																																					0.622	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		68	364	0	0	0	1	0	68	364					T	16977334	C	T	16977334	2	4	79	1	0	0	0	0	0	0	0	1	14376	796	28	2		2	SIN3B	19	16977334	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51249	16977334	42151649	18820	29137											
SIN3B	23309	broad.mit.edu	37	chr19	16987345	16987345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatgaccatcgagctcCtggacaccgaggaggcccag	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16987345C>T	ENST00000248054.5	+	16	2836	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000379803.1_Silent_p.L971L					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATCGAGCTCCTGGACACCGA	0.667																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2911-2913)Ctg>Ttg		SIN3 transcription regulator family member B							71	57	62					19																	16987345		2203	4300	6503	SO:0001819	synonymous_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16987345C>T	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.2815C>T	19.37:g.16987345C>T						SIN3B_ENST00000595541.1_Silent_p.L529L|SIN3B_ENST00000248054.5_Silent_p.L939L	p.L971L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			17	2925	+			971						Silent	SNP	ENST00000248054.5	37	c.2911C>T																																																																																					0.667	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		54	209	0	0	0	1	0	54	209					T	16987345	C	T	16987345	2	4	79	1	0	0	0	0	0	0	0	1	14376	680	24	2		2	SIN3B	19	16987345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10011	16987345	42141638	18821	29138											
F2RL3	9002	broad.mit.edu	37	chr19	17001352	17001352	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagggctcttccaacggtcgCcgggggacaccgtggcctcc	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17001352C>A	ENST00000248076.3	+	2	1408	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	360					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						CCAACGGTCGCCGGGGGACAC	0.647																																						ENST00000248076.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(1078-1080)Ccg>Acg		coagulation factor II (thrombin) receptor-like 3							22	21	22					19																	17001352		2200	4298	6498	SO:0001583	missense	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17001352C>A	AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.1078C>A	19.37:g.17001352C>A	ENSP00000248076:p.Pro360Thr						p.P360T	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN			2	1408	+			360					O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	c.1078C>A	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701811	0.30232	.	.	ENSG00000127533	ENST00000248076	T	0.57436	0.4	4.15	1.75	0.24633	.	0.781535	0.10545	U	0.662160	T	0.35998	0.0951	L	0.27053	0.805	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.20840	-1.0263	10	0.14252	T	0.57	.	9.728	0.40344	0.6634:0.3366:0.0:0.0	.	360	Q96RI0	PAR4_HUMAN	T	360	ENSP00000248076:P360T	ENSP00000248076:P360T	P	+	1	0	F2RL3	16862352	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.489000	0.22387	0.676000	0.31285	0.491000	0.48974	CCG		0.647	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			17	67	1	0	3.45872e-05	1	3.53336e-05	17	67					A	17001352	C	A	17001352	3	1	79	1	0	0	0	0	1	0	0	0	5364	739	26	3	1084	3	F2RL3	19	17001352	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14007	17001352	42127631	18822	29139											
CPAMD8	27151	broad.mit.edu	37	chr19	17010326	17010326	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcgtccagccacttcaTacctcttcatccccatgtgc	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17010326T>C	ENST00000443236.1	-	37	4980	c.4949A>G	c.(4948-4950)tAt>tGt	p.Y1650C	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1603						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						AGCCACTTCATACCTCTTCAT	0.577																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4948-4950)tAt>tGt		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							67	75	73					19																	17010326		2087	4224	6311	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17010326T>C	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.4949A>G	19.37:g.17010326T>C	ENSP00000402505:p.Tyr1650Cys						p.Y1650C	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			37	4980	-			1603					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4949A>G	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.02|18.02	3.530404|3.530404	0.64860|0.64860	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000013	T|T	0.79713|0.79713	0.4493|0.4493	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	T|T	0.81992|0.81992	-0.0678|-0.0678	5|9	.|0.56958	.|D	.|0.05	.|.	11.2812|11.2812	0.49195|0.49195	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1603	.|Q8IZJ3	.|CPMD8_HUMAN	V|C	1661|1650	.|.	.|ENSP00000291440:Y1650C	M|Y	-|-	1|2	0|0	CPAMD8|CPAMD8	16871326|16871326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.702000|5.702000	0.68332|0.68332	1.123000|1.123000	0.41961|0.41961	0.444000|0.444000	0.29173|0.29173	ATG|TAT		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		37	203	0	0	0	1	0	37	203					C	17010326	T	C	17010326	3	2	79	1	0	0	0	0	1	0	0	0	3804	1406	49	4	873	4	CPAMD8	19	17010326	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8974	17010326	42118657	18823	29140											
CPAMD8	27151	broad.mit.edu	37	chr19	17013581	17013581	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaggcaggcatggggggCgggcgtccctgggcctcagg	22	11	1	0	rs200862393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17013581C>T	ENST00000443236.1	-	35	4735	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1521						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						GCATGGGGGGCGGGCGTCCCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		17468	0.0		0.001	False		,,,				2504	0.0					ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4702-4704)ccG>ccA		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C		2,3928		0,2,1963	44	52	49		4704	-4.5	0	19		49	9,8273		0,9,4132	no	coding-synonymous	CPAMD8	NM_015692.2		0,11,6095	TT,TC,CC		0.1087,0.0509,0.0901		1568/1933	17013581	11,12201	1965	4141	6106	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17013581C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4704G>A	19.37:g.17013581C>T							p.P1568P	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			35	4735	-			1521					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.4704G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	2.048	-0.418387	0.04766	5.09E-4	0.001087	ENSG00000160111	ENST00000443236	.	.	.	2.24	-4.49	0.03504	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	.	0.9537	0.01381	0.1533:0.3568:0.1509:0.339	.	.	.	.	H	1579	.	.	R	-	2	0	CPAMD8	16874581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.634000	0.00869	-1.209000	0.02631	-2.791000	0.00116	CGC		0.647	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		113	465	0	0	0	1	0	113	465					T	17013581	C	T	17013581	2	4	79	1	0	0	0	0	0	0	0	1	3804	755	27	1		1	CPAMD8	19	17013581	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3255	17013581	42115402	18824	29141											
CPAMD8	27151	broad.mit.edu	37	chr19	17132946	17132946	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtcacgctgatgacttcCtccacgcccgcgcgaaaaac	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17132946C>A	ENST00000443236.1	-	2	310	c.279G>T	c.(277-279)gaG>gaT	p.E93D	CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	46						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						TGATGACTTCCTCCACGCCCG	0.602																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(277-279)gaG>gaT		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							36	36	36					19																	17132946		1953	4139	6092	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17132946C>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.279G>T	19.37:g.17132946C>A	ENSP00000402505:p.Glu93Asp					CPAMD8_ENST00000388925.4_Missense_Mutation_p.E46D	p.E93D	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			2	310	-			46					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.279G>T	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.64|12.64	1.997869|1.997869	0.35226|0.35226	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.53640|.	0.61;0.62|.	3.06|3.06	2.0|2.0	0.26442|0.26442	.|.	0.317597|.	0.24012|.	U|.	0.042378|.	T|T	0.44222|0.44222	0.1283|0.1283	L|L	0.52759|0.52759	1.655|1.655	0.31172|0.31172	N|N	0.703042|0.703042	B|.	0.22276|.	0.067|.	B|.	0.15052|.	0.012|.	T|T	0.47182|0.47182	-0.9137|-0.9137	10|5	0.23302|.	T|.	0.38|.	.|.	6.1895|6.1895	0.20516|0.20516	0.0:0.7583:0.0:0.2417|0.0:0.7583:0.0:0.2417	.|.	46|.	Q8IZJ3|.	CPMD8_HUMAN|.	D|M	93;46|104	ENSP00000291440:E93D;ENSP00000373577:E46D|.	ENSP00000291440:E93D|.	E|R	-|-	3|2	2|0	CPAMD8|CPAMD8	16993946|16993946	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.795000|0.795000	0.44927|0.44927	2.502000|2.502000	0.45398|0.45398	0.290000|0.290000	0.22444|0.22444	-0.229000|-0.229000	0.12294|0.12294	GAG|AGG		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		21	54	1	0	2.27731e-05	1	2.32891e-05	21	54					A	17132946	C	A	17132946	3	1	79	1	0	0	0	0	1	0	0	0	3804	680	24	3	5683	3	CPAMD8	19	17132946	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	119365	17132946	41996037	18825	29142											
HAUS8	93323	broad.mit.edu	37	chr19	17166810	17166810	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgaaggggctgagcatctcGatctgtaagcagaagggata	14	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17166810G>A	ENST00000253669.5	-	9	838	c.648C>T	c.(646-648)atC>atT	p.I216I	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Silent_p.I155I|HAUS8_ENST00000448593.2_Silent_p.I215I			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	216					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)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TGAGCATCTCGATCTGTAAGC	0.562																																						ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(463-465)atC>atT		HAUS augmin-like complex, subunit 8							134	116	122					19																	17166810		2203	4300	6503	SO:0001819	synonymous_variant	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17166810G>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"HAUS augmin-like complex subunits"	30532	protein-coding gene	gene with protein product		613434	"HEC1/NDC80 interacting, centrosome associated 1"	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.648C>T	19.37:g.17166810G>A						HAUS8_ENST00000448593.2_Silent_p.I215I|HAUS8_ENST00000253669.5_Silent_p.I216I	p.I155I			Q9BT25	HAUS8_HUMAN			8	2483	-			216					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Silent	SNP	ENST00000253669.5	37	c.465C>T	CCDS32948.1																																																																																				0.562	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		9	527	0	0	0	1	0	9	527					A	17166810	G	A	17166810	2	1	79	1	0	0	0	0	0	0	0	1	7002	1048	37	1		1	HAUS8	19	17166810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33864	17166810	41962173	18826	29143											
MYO9B	4650	broad.mit.edu	37	chr19	17212778	17212778	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggacgccaacgactcgcCtgtgcaccgggtgctgctat	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17212778C>A	ENST00000594824.1	+	2	398	c.251C>A	c.(250-252)cCt>cAt	p.P84H	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000595618.1_Missense_Mutation_p.P84H|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H			Q13459	MYO9B_HUMAN	myosin IXB	84	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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						AACGACTCGCCTGTGCACCGG	0.637																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(250-252)cCt>cAt		myosin IXB							41	47	45					19																	17212778		2056	4185	6241	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212778C>A		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.251C>A	19.37:g.17212778C>A	ENSP00000471367:p.Pro84His					MYO9B_ENST00000594824.1_Missense_Mutation_p.P84H|MYO9B_ENST00000397274.2_Missense_Mutation_p.P84H	p.P84H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			2	403	+			84			Myosin head-like.|Ras-associating.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.251C>A		.	.	.	.	.	.	.	.	.	.	C	19.40	3.820121	0.71028	.	.	ENSG00000099331	ENST00000397274	T	0.60672	0.17	4.93	4.93	0.64822	Ras-association (3);	0.000000	0.47852	D	0.000208	T	0.76198	0.3954	M	0.75615	2.305	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79249	-0.1881	10	0.62326	D	0.03	.	17.1436	0.86760	0.0:1.0:0.0:0.0	.	84;84;90	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	84	ENSP00000380444:P84H	ENSP00000380444:P84H	P	+	2	0	MYO9B	17073778	1.000000	0.71417	0.082000	0.20525	0.720000	0.41350	7.517000	0.81783	2.264000	0.75181	0.655000	0.94253	CCT		0.637	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			7	144	1	0	0.000157383	1	0.000159814	7	144					A	17212778	C	A	17212778	3	1	79	1	0	0	0	0	1	0	0	0	10126	681	24	3	253	3	MYO9B	19	17212778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45968	17212778	41916205	18827	29144											
NR2F6	2063	broad.mit.edu	37	chr19	17343433	17343433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtctgagaggccacaggCgtctagggggacaaaggcaa	17	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17343433C>T	ENST00000291442.3	-	4	1662	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	315	Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGGCCACAGGCGTCTAGGGGG	0.642																																						ENST00000291442.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						c.(943-945)Gcc>Acc		nuclear receptor subfamily 2, group F, member 6							19	21	20					19																	17343433		2203	4297	6500	SO:0001583	missense	2063				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr19:17343433C>T	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.943G>A	19.37:g.17343433C>T	ENSP00000291442:p.Ala315Thr						p.A315T	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN			4	1662	-			315			Ligand-binding (By similarity).		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	37	c.943G>A	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681882	0.68042	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	T	0.51817	0.69	4.71	4.71	0.59529	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	U	0.000000	T	0.58018	0.2093	L	0.35593	1.075	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60596	-0.7232	10	0.54805	T	0.06	.	15.175	0.72903	0.0:1.0:0.0:0.0	.	315	P10588	NR2F6_HUMAN	T	315;288	ENSP00000291442:A315T	ENSP00000291442:A315T	A	-	1	0	NR2F6	17204433	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	5.943000	0.70211	2.168000	0.68352	0.555000	0.69702	GCC		0.642	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			29	129	0	0	0	1	0	29	129					T	17343433	C	T	17343433	3	4	79	1	0	0	0	0	1	0	0	0	10671	768	27	1	275	1	NR2F6	19	17343433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130655	17343433	41785550	18828	29145											
USHBP1	83878	broad.mit.edu	37	chr19	17369103	17369103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcttccttttcagctgCttgcaggtcactcatggggg	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17369103C>T	ENST00000252597.3	-	8	1311	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	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						TTTTCAGCTGCTTGCAGGTCA	0.592																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1138-1140)Gca>Aca		Usher syndrome 1C binding protein 1							95	82	86					19																	17369103		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17369103C>T	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.1138G>A	19.37:g.17369103C>T	ENSP00000252597:p.Ala380Thr					USHBP1_ENST00000431146.2_Missense_Mutation_p.A316T	p.A380T	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			8	1311	-			380						Missense_Mutation	SNP	ENST00000252597.3	37	c.1138G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988810	0.18966	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.21031	2.04;2.03	4.11	1.9	0.25705	.	0.777662	0.11749	N	0.533250	T	0.15652	0.0377	L	0.56769	1.78	0.20638	N	0.999875	B;B	0.27498	0.18;0.18	B;B	0.19391	0.025;0.025	T	0.31503	-0.9941	10	0.10111	T	0.7	-0.2273	4.8094	0.13337	0.0:0.6537:0.2258:0.1206	.	316;380	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	T	380;316	ENSP00000252597:A380T;ENSP00000407902:A316T	ENSP00000252597:A380T	A	-	1	0	USHBP1	17230103	0.625000	0.27111	0.533000	0.28001	0.396000	0.30629	1.827000	0.39102	0.994000	0.38892	0.544000	0.68410	GCA		0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		81	335	0	0	0	1	0	81	335					T	17369103	C	T	17369103	3	4	79	1	0	0	0	0	1	0	0	0	17091	797	28	2	997	2	USHBP1	19	17369103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25670	17369103	41759880	18829	29146											
USHBP1	83878	broad.mit.edu	37	chr19	17373371	17373371	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccccactcacctctttctgcAgcgtctccttctcagctcgg	6	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373371A>G	ENST00000252597.3	-	4	805	c.632T>C	c.(631-633)cTg>cCg	p.L211P	USHBP1_ENST00000598570.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	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						CTCTTTCTGCAGCGTCTCCTT	0.592																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(631-633)cTg>cCg		Usher syndrome 1C binding protein 1							40	35	37					19																	17373371		2198	4296	6494	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373371A>G	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.632T>C	19.37:g.17373371A>G	ENSP00000252597:p.Leu211Pro					USHBP1_ENST00000431146.2_Missense_Mutation_p.L147P	p.L211P	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	805	-			211						Missense_Mutation	SNP	ENST00000252597.3	37	c.632T>C	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111685	0.56398	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.38722	1.18;1.12	3.83	3.83	0.44106	.	0.720289	0.11602	N	0.547680	T	0.52789	0.1756	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.982;0.996;0.982	T	0.50701	-0.8797	10	0.87932	D	0	-9.7072	10.8449	0.46737	1.0:0.0:0.0:0.0	.	147;211;211	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	P	211;147;211	ENSP00000252597:L211P;ENSP00000407902:L147P	ENSP00000252597:L211P	L	-	2	0	USHBP1	17234371	0.997000	0.39634	0.985000	0.45067	0.760000	0.43138	4.935000	0.63498	1.527000	0.49086	0.260000	0.18958	CTG		0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		51	240	0	0	0	1	0	51	240					G	17373371	A	G	17373371	3	3	79	1	0	0	0	0	1	0	0	0	17091	188	7	4	1519	4	USHBP1	19	17373371	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4268	17373371	41755612	18830	29147											
USHBP1	83878	broad.mit.edu	37	chr19	17373654	17373654	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctggagggtctgaaacacatCgggggccccattcccagggg	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373654C>A	ENST00000252597.3	-	4	522	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y	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						TGAAACACATCGGGGGCCCCA	0.652																																						ENST00000252597.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(349-351)Gat>Tat		Usher syndrome 1C binding protein 1							57	65	62					19																	17373654		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17373654C>A	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.349G>T	19.37:g.17373654C>A	ENSP00000252597:p.Asp117Tyr					USHBP1_ENST00000431146.2_Missense_Mutation_p.D53Y|USHBP1_ENST00000598570.1_5'UTR	p.D117Y	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN			4	522	-			117						Missense_Mutation	SNP	ENST00000252597.3	37	c.349G>T	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053407	0.19907	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.23950	1.92;1.88	3.98	1.83	0.25207	.	0.503260	0.17836	N	0.160369	T	0.30665	0.0772	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.69654	0.936;0.965;0.965	T	0.03354	-1.1045	10	0.87932	D	0	-7.551	4.9626	0.14074	0.0:0.7191:0.0:0.2809	.	53;117;117	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	Y	117;53;117	ENSP00000252597:D117Y;ENSP00000407902:D53Y	ENSP00000252597:D117Y	D	-	1	0	USHBP1	17234654	0.005000	0.15991	0.045000	0.18777	0.018000	0.09664	1.028000	0.30128	0.960000	0.38005	0.563000	0.77884	GAT		0.652	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1	NM_031941		141	501	1	0	3.73943e-79	1	4.7788e-79	141	501					A	17373654	C	A	17373654	3	1	79	1	0	0	0	0	1	0	0	0	17091	884	31	3	1802	3	USHBP1	19	17373654	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	283	17373654	41755329	18831	29148											
C19orf62	29086	broad.mit.edu	37	chr19	17379674	17379674	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaggaggaagaggagcactCggcagagcctcggccccgca	17	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17379674C>T	ENST00000359435.4	+	2	252	c.59C>T	c.(58-60)tCg>tTg	p.S20L	BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000595632.1_Missense_Mutation_p.S20L|BABAM1_ENST00000601043.1_Missense_Mutation_p.S20L|BABAM1_ENST00000598188.1_Missense_Mutation_p.S20L|BABAM1_ENST00000447614.2_Missense_Mutation_p.S20L|CTD-2278I10.6_ENST00000596542.1_5'UTR	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	20					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						GAGGAGCACTCGGCAGAGCCT	0.667																																						ENST00000359435.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						c.(58-60)tCg>tTg		BRISC and BRCA1 A complex member 1							10	14	13					19																	17379674		2025	4164	6189	SO:0001583	missense	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17379674C>T	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.59C>T	19.37:g.17379674C>T	ENSP00000352408:p.Ser20Leu					BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000447614.2_Missense_Mutation_p.S20L|CTD-2278I10.6_ENST00000596542.1_5'UTR|BABAM1_ENST00000601043.1_Missense_Mutation_p.S20L|BABAM1_ENST00000598188.1_Missense_Mutation_p.S20L|BABAM1_ENST00000595632.1_Missense_Mutation_p.S20L	p.S20L	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN			2	252	+			20					A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	37	c.59C>T	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517622	0.13005	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000448635	.	.	.	4.86	2.55	0.30701	.	1.154760	0.06234	N	0.689250	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.19418	-1.0306	9	0.23891	T	0.37	-6.4354	6.5372	0.22361	0.1847:0.711:0.0:0.1044	.	20;20	Q9NWV8-3;Q9NWV8	.;BABA1_HUMAN	L	20	.	ENSP00000352408:S20L	S	+	2	0	BABAM1	17240674	0.000000	0.05858	0.007000	0.13788	0.013000	0.08279	0.073000	0.14640	1.204000	0.43247	0.655000	0.94253	TCG		0.667	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1	NM_014173		25	67	0	0	0	1	0	25	67					T	17379674	C	T	17379674	3	4	79	1	0	0	0	0	1	0	0	0	1951	893	31	1	61	1	C19orf62	19	17379674	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6020	17379674	41749309	18832	29149											
ABHD8	79575	broad.mit.edu	37	chr19	17405187	17405187	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acggtgagctcggcgtggtaGacctcgtcgccctcgggcca	15	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17405187G>A	ENST00000247706.3	-	4	1298	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron|CTD-2278I10.4_ENST00000594077.1_RNA	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	353							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGGCGTGGTAGACCTCGTCGC	0.617																																					Ovarian(156;1368 2543 15275 41187)	ENST00000247706.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						c.(1057-1059)gtC>gtT		abhydrolase domain containing 8							120	93	102					19																	17405187		2203	4300	6503	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17405187G>A	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.1059C>T	19.37:g.17405187G>A						MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	p.V353V	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN			4	1298	-			353					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.1059C>T	CCDS12355.1																																																																																				0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		106	430	0	0	0	1	0	106	430					A	17405187	G	A	17405187	2	1	79	1	0	0	0	0	0	0	0	1	87	929	33	2		2	ABHD8	19	17405187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25513	17405187	41723796	18833	29150											
ANO8	57719	broad.mit.edu	37	chr19	17435885	17435885	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagtgaggatgtggcccctGacgagaggaatttgccctgc	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17435885G>A	ENST00000159087.4	-	17	3130	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	991					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGTGGCCCCTGACGAGAGGAA	0.667																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2971-2973)tCa>tTa		anoctamin 8							79	88	85					19																	17435885		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17435885G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2972C>T	19.37:g.17435885G>A	ENSP00000159087:p.Ser991Leu						p.S991L	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	3130	-			991					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2972C>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914818	0.33815	.	.	ENSG00000074855	ENST00000159087	T	0.67171	-0.25	3.87	3.87	0.44632	.	0.798338	0.11379	N	0.570010	T	0.74718	0.3753	L	0.36672	1.1	0.37414	D	0.913357	D	0.71674	0.998	D	0.76071	0.987	T	0.76231	-0.3035	10	0.72032	D	0.01	.	13.3031	0.60336	0.0:0.0:1.0:0.0	.	991	Q9HCE9	ANO8_HUMAN	L	991	ENSP00000159087:S991L	ENSP00000159087:S991L	S	-	2	0	ANO8	17296885	0.004000	0.15560	0.017000	0.16124	0.015000	0.08874	1.458000	0.35223	1.697000	0.51169	0.478000	0.44815	TCA		0.667	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		123	924	0	0	0	1	0	123	924					A	17435885	G	A	17435885	3	1	79	1	0	0	0	0	1	0	0	0	703	1294	45	2	734	2	ANO8	19	17435885	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30698	17435885	41693098	18834	29151											
ANO8	57719	broad.mit.edu	37	chr19	17442206	17442206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggatgatcccacgtgCtgccagctccgggactgtgg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17442206C>T	ENST00000159087.4	-	6	759	c.601G>A	c.(601-603)Gca>Aca	p.A201T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	201					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ATCCCACGTGCTGCCAGCTCC	0.602																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(601-603)Gca>Aca		anoctamin 8							59	58	58					19																	17442206		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17442206C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.601G>A	19.37:g.17442206C>T	ENSP00000159087:p.Ala201Thr						p.A201T	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			6	759	-			201					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.601G>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057035	0.76074	.	.	ENSG00000074855	ENST00000159087	T	0.62105	0.05	5.3	5.3	0.74995	.	0.054739	0.64402	D	0.000001	T	0.57946	0.2088	L	0.51422	1.61	0.48236	D	0.999615	B	0.29341	0.242	B	0.31547	0.132	T	0.54036	-0.8353	10	0.22706	T	0.39	.	16.5003	0.84255	0.0:1.0:0.0:0.0	.	201	Q9HCE9	ANO8_HUMAN	T	201	ENSP00000159087:A201T	ENSP00000159087:A201T	A	-	1	0	ANO8	17303206	1.000000	0.71417	0.976000	0.42696	0.216000	0.24613	5.630000	0.67805	2.496000	0.84212	0.306000	0.20318	GCA		0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		17	367	0	0	0	1	0	17	367					T	17442206	C	T	17442206	3	4	79	1	0	0	0	0	1	0	0	0	703	797	28	2	3149	2	ANO8	19	17442206	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6321	17442206	41686777	18835	29152											
ANO8	57719	broad.mit.edu	37	chr19	17443792	17443792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgcttctccctgcttgGcacgcaaattctgcagccag	11	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17443792G>A	ENST00000159087.4	-	5	691	c.533C>T	c.(532-534)gCc>gTc	p.A178V	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	178					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCCCTGCTTGGCACGCAAATT	0.602																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(532-534)gCc>gTc		anoctamin 8							67	60	62					19																	17443792		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17443792G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.533C>T	19.37:g.17443792G>A	ENSP00000159087:p.Ala178Val						p.A178V	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			5	691	-			178					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.533C>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507049	0.96386	.	.	ENSG00000074855	ENST00000159087	T	0.64438	-0.1	5.32	5.32	0.75619	.	0.166846	0.52532	D	0.000076	T	0.77758	0.4178	M	0.84683	2.71	0.47949	D	0.999559	D	0.56521	0.976	P	0.58577	0.841	T	0.77504	-0.2563	10	0.30854	T	0.27	.	16.4823	0.84161	0.0:0.0:1.0:0.0	.	178	Q9HCE9	ANO8_HUMAN	V	178	ENSP00000159087:A178V	ENSP00000159087:A178V	A	-	2	0	ANO8	17304792	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	9.123000	0.94387	2.499000	0.84300	0.555000	0.69702	GCC		0.602	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		54	228	0	0	0	1	0	54	228					A	17443792	G	A	17443792	3	1	79	1	0	0	0	0	1	0	0	0	703	1203	42	2	3221	2	ANO8	19	17443792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1586	17443792	41685191	18836	29153											
GTPBP3	84705	broad.mit.edu	37	chr19	17448962	17448962	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgccctccgaattctcacaGcaccccgagacctgcccctt	6	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17448962G>T	ENST00000324894.8	+	2	267	c.199G>T	c.(199-201)Gca>Tca	p.A67S	GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	67					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AATTCTCACAGCACCCCGAGA	0.711																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(199-201)Gca>Tca		GTP binding protein 3 (mitochondrial)							13	15	14					19																	17448962		2185	4279	6464	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17448962G>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.199G>T	19.37:g.17448962G>T	ENSP00000313818:p.Ala67Ser					GTPBP3_ENST00000358792.7_Missense_Mutation_p.A67S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.A67S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.A89S	p.A67S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			2	267	+			67					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.199G>T	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072863	0.36566	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792;ENST00000546035	T;T;T	0.29655	1.56;1.57;1.56	5.61	3.47	0.39725	GTP-binding protein TrmE, N-terminal (2);	0.157689	0.56097	D	0.000040	T	0.30386	0.0763	N	0.16656	0.425	0.28550	N	0.91166	B;B;B;D	0.57899	0.063;0.067;0.12;0.981	B;B;B;P	0.57101	0.032;0.065;0.061;0.813	T	0.07046	-1.0793	10	0.56958	D	0.05	-17.1603	10.3432	0.43891	0.1647:0.0:0.8353:0.0	.	89;67;67;67	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	89;67;67;67	ENSP00000354598:A89S;ENSP00000313818:A67S;ENSP00000351644:A67S	ENSP00000313818:A67S	A	+	1	0	GTPBP3	17309962	1.000000	0.71417	0.620000	0.29132	0.019000	0.09904	2.254000	0.43214	1.371000	0.46172	0.491000	0.48974	GCA		0.711	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		17	88	1	0	1.00905e-13	1	1.09121e-13	17	88					T	17448962	G	T	17448962	3	4	79	1	0	0	0	0	1	0	0	0	6911	971	34	3	205	3	GTPBP3	19	17448962	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5170	17448962	41680021	18837	29154											
GTPBP3	84705	broad.mit.edu	37	chr19	17449816	17449816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaggatgacaacctggaGgagggggtcctggagcaagg	20	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17449816G>A	ENST00000324894.8	+	5	713	c.645G>A	c.(643-645)gaG>gaA	p.E215E	GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000361619.5_Silent_p.E237E|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	215					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACAACCTGGAGGAGGGGGTCC	0.622																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(643-645)gaG>gaA		GTP binding protein 3 (mitochondrial)							74	69	71					19																	17449816		2203	4300	6503	SO:0001819	synonymous_variant	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17449816G>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.645G>A	19.37:g.17449816G>A						GTPBP3_ENST00000358792.7_Silent_p.E215E|GTPBP3_ENST00000600625.1_Silent_p.E215E|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Silent_p.E237E	p.E215E	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			5	713	+			215					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	c.645G>A	CCDS32951.1																																																																																				0.622	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		75	345	0	0	0	1	0	75	345					A	17449816	G	A	17449816	2	1	79	1	0	0	0	0	0	0	0	1	6911	991	35	2		2	GTPBP3	19	17449816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	854	17449816	41679167	18838	29155											
GTPBP3	84705	broad.mit.edu	37	chr19	17450356	17450356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgacacggctgggttgCgggagggcgtggggcccgtg	22	9	0	1	rs151131704		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17450356C>T	ENST00000324894.8	+	7	990	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	308	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGCTGGGTTGCGGGAGGGCGT	0.716																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(922-924)Cgg>Tgg		GTP binding protein 3 (mitochondrial)		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	29	28	28		922,988,922,1018	3.9	1	19	dbSNP_134	28	1,8593		0,1,4296	no	missense,missense,missense,missense	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	101,101,101,101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	308/472,330/515,308/493,340/525	17450356	1,12995	2201	4297	6498	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17450356C>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.922C>T	19.37:g.17450356C>T	ENSP00000313818:p.Arg308Trp					GTPBP3_ENST00000358792.7_Missense_Mutation_p.R340W|GTPBP3_ENST00000600625.1_Missense_Mutation_p.R308W|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R330W	p.R308W	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			7	990	+			308					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.922C>T	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	c	21.9	4.209797	0.79240	0.0	1.16E-4	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.18016	2.24;2.24;2.24	4.95	3.92	0.45320	Small GTP-binding protein domain (1);GTP-binding domain, HSR1-related (1);	0.057107	0.64402	D	0.000001	T	0.56920	0.2018	H	0.98577	4.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.998;0.998	T	0.71477	-0.4581	10	0.87932	D	0	-20.3885	11.2894	0.49241	0.0:0.909:0.0:0.091	.	330;308;308;340	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	W	330;308;340	ENSP00000354598:R330W;ENSP00000313818:R308W;ENSP00000351644:R340W	ENSP00000313818:R308W	R	+	1	2	GTPBP3	17311356	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.348000	0.44045	1.217000	0.43442	0.491000	0.48974	CGG		0.716	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		57	237	0	0	0	1	0	57	237					T	17450356	C	T	17450356	3	4	79	1	0	0	0	0	1	0	0	0	6911	759	27	1	1040	1	GTPBP3	19	17450356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	540	17450356	41678627	18839	29156											
GTPBP3	84705	broad.mit.edu	37	chr19	17452019	17452019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtcggacctgctgtccCcggagggcccaggtcccggt	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17452019C>T	ENST00000324894.8	+	8	1209	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S	GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	381	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCTGCTGTCCCCGGAGGGCCC	0.687																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1141-1143)Ccg>Tcg		GTP binding protein 3 (mitochondrial)							34	34	34					19																	17452019		2203	4300	6503	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452019C>T	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1141C>T	19.37:g.17452019C>T	ENSP00000313818:p.Pro381Ser					GTPBP3_ENST00000358792.7_Missense_Mutation_p.P413S|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P360S|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P403S	p.P381S	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			8	1209	+			381					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.1141C>T	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093545	0.20471	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13420	2.59;2.59;2.59	5.31	-10.6	0.00265	.	1.867520	0.02671	N	0.108547	T	0.04861	0.0131	N	0.08118	0	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;0.0;0.002;0.001	T	0.29150	-1.0021	10	0.40728	T	0.16	1.6133	1.9569	0.03378	0.1559:0.2459:0.3338:0.2643	.	403;381;360;413	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	403;381;413	ENSP00000354598:P403S;ENSP00000313818:P381S;ENSP00000351644:P413S	ENSP00000313818:P381S	P	+	1	0	GTPBP3	17313019	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-3.115000	0.00598	-1.760000	0.01312	-1.370000	0.01191	CCG		0.687	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		9	172	0	0	0	1	0	9	172					T	17452019	C	T	17452019	3	4	79	1	0	0	0	0	1	0	0	0	6911	623	22	2	1263	2	GTPBP3	19	17452019	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1663	17452019	41676964	18840	29157											
PLVAP	83483	broad.mit.edu	37	chr19	17487909	17487909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggccctcggctcggcgctcGgtggcctgcaggttggactc	16	14	0	0	rs369742034		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17487909G>A	ENST00000252590.4	-	1	250	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	63					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						CTCGGCGCTCGGTGGCCTGCA	0.597																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(187-189)acC>acT		plasmalemma vesicle associated protein		G		0,4406		0,0,2203	92	77	82		189	-4.9	0.9	19		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLVAP	NM_031310.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		63/443	17487909	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487909G>A	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.189C>T	19.37:g.17487909G>A							p.T63T	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	250	-			63					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.189C>T	CCDS32952.1																																																																																				0.597	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		56	208	0	0	0	1	0	56	208					A	17487909	G	A	17487909	2	1	79	1	0	0	0	0	0	0	0	1	12158	1103	39	1		1	PLVAP	19	17487909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35890	17487909	41641074	18841	29158											
BST2	684	broad.mit.edu	37	chr19	17516300	17516300	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacgatgatcaggagcaccaGaattcctatccccagcagaa	8	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17516300G>A	ENST00000252593.6	-	1	157	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	CTD-2521M24.9_ENST00000500836.2_lincRNA|BST2_ENST00000527220.1_5'UTR	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	29					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGGAGCACCAGAATTCCTATC	0.542																																						ENST00000252593.6																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						c.(85-87)Ctg>Ttg		bone marrow stromal cell antigen 2							147	122	130					19																	17516300		2203	4300	6503	SO:0001819	synonymous_variant	684				B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	anchored to membrane|Golgi apparatus|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity	g.chr19:17516300G>A		CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"CD molecules"	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.85C>T	19.37:g.17516300G>A						BST2_ENST00000527220.1_5'UTR	p.L29L	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN			1	157	-			29					A8K4Y4|Q53G07	Silent	SNP	ENST00000252593.6	37	c.85C>T	CCDS12358.1																																																																																				0.542	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387346.1	NM_004335		80	384	0	0	0	1	0	80	384					A	17516300	G	A	17516300	2	1	79	1	0	0	0	0	0	0	0	1	1538	933	33	2		2	BST2	19	17516300	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28391	17516300	41612683	18842	29159											
SLC27A1	376497	broad.mit.edu	37	chr19	17581359	17581359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcttccccaggatgcgggctCcgggtgcgggcgcggcctcg	18	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17581359C>T	ENST00000252595.7	+	1	107	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	4					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GATGCGGGCTCCGGGTGCGGG	0.771																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(10-12)Ccg>Tcg		solute carrier family 27 (fatty acid transporter), member 1							4	4	4					19																	17581359		1847	3679	5526	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17581359C>T	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.10C>T	19.37:g.17581359C>T	ENSP00000252595:p.Pro4Ser					SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.P4S	p.P4S	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			1	107	+			4					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.10C>T	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.520282	0.44866	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.43294	0.95;0.95	3.33	2.19	0.27852	.	0.703723	0.12393	U	0.472835	T	0.29158	0.0725	N	0.25647	0.755	0.25964	N	0.982589	B	0.20261	0.043	B	0.19946	0.027	T	0.21586	-1.0241	10	0.56958	D	0.05	.	8.4965	0.33132	0.0:0.5922:0.4078:0.0	.	4	Q6PCB7	S27A1_HUMAN	S	4	ENSP00000413424:P4S;ENSP00000252595:P4S	ENSP00000252595:P4S	P	+	1	0	SLC27A1	17442359	0.003000	0.15002	0.989000	0.46669	0.688000	0.40055	1.100000	0.31025	1.701000	0.51217	0.479000	0.44913	CCG		0.771	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		8	31	0	0	0	1	0	8	31					T	17581359	C	T	17581359	3	4	79	1	0	0	0	0	1	0	0	0	14575	855	30	2	12	2	SLC27A1	19	17581359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65059	17581359	41547624	18843	29160											
SLC27A1	376497	broad.mit.edu	37	chr19	17615330	17615330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacgccagacctcagaccGgctcttcttcctggacctga	8	18	3	3	rs200011104		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17615330G>A	ENST00000252595.7	+	12	1947	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	617					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCTCAGACCGGCTCTTCTTC	0.597																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1849-1851)cGg>cAg		solute carrier family 27 (fatty acid transporter), member 1							89	75	80					19																	17615330		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17615330G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1850G>A	19.37:g.17615330G>A	ENSP00000252595:p.Arg617Gln					SLC27A1_ENST00000598424.1_Missense_Mutation_p.R438Q|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R617Q	p.R617Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			12	1947	+			617					A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1850G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	3.084	-0.188459	0.06299	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.46819	0.86;0.86	4.13	1.87	0.25490	.	0.145401	0.47852	N	0.000208	T	0.30103	0.0754	L	0.28115	0.83	0.24052	N	0.99605	B;B	0.22080	0.013;0.064	B;B	0.11329	0.004;0.006	T	0.13953	-1.0490	10	0.33141	T	0.24	-18.0686	8.3662	0.32389	0.0931:0.2886:0.6184:0.0	.	438;617	B7Z662;Q6PCB7	.;S27A1_HUMAN	Q	617	ENSP00000413424:R617Q;ENSP00000252595:R617Q	ENSP00000252595:R617Q	R	+	2	0	SLC27A1	17476330	0.423000	0.25482	0.921000	0.36526	0.308000	0.27856	1.473000	0.35387	-0.076000	0.12775	-1.134000	0.01955	CGG		0.597	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		78	355	0	0	0	1	0	78	355					A	17615330	G	A	17615330	3	1	79	1	0	0	0	0	1	0	0	0	14575	1116	39	1	1896	1	SLC27A1	19	17615330	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33971	17615330	41513653	18844	29161											
PGLS	25796	broad.mit.edu	37	chr19	17628198	17628198	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagaccaccccctcctacaGgtgagcacaccaatgcgggg	10	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	ENST00000252603.2	+	3	542	c.498G>T	c.(496-498)caG>caT	p.Q166H	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	166					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						CCCTCCTACAGGTGAGCACAC	0.622																																						ENST00000252603.2																			0				endometrium(1)|lung(1)	2						c.e3+1		6-phosphogluconolactonase							80	83	82					19																	17628198		2203	4300	6503	SO:0001630	splice_region_variant	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17628198G>T	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.498+1G>T	19.37:g.17628198G>T							p.Q166_splice	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN			3	542	+			166						Splice_Site	SNP	ENST00000252603.2	37	c.498_splice	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019145	0.75275	.	.	ENSG00000130313	ENST00000252603	T	0.43688	0.94	5.03	5.03	0.67393	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.058221	0.64402	D	0.000001	T	0.54431	0.1858	L	0.43701	1.375	0.80722	D	1	D	0.56035	0.974	D	0.64595	0.927	T	0.49615	-0.8921	10	0.35671	T	0.21	-27.893	15.8907	0.79296	0.0:0.0:1.0:0.0	.	166	O95336	6PGL_HUMAN	H	166	ENSP00000252603:Q166H	ENSP00000252603:Q166H	Q	+	3	2	PGLS	17489198	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	8.833000	0.92089	2.339000	0.79563	0.485000	0.47835	CAG		0.622	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1		Missense_Mutation	67	624	1	0	1.92745e-42	1	2.3466e-42	67	624					T	17628198	G	T	17628198	5	4	79	1	0	0	0	0	0	0	1	0	11834	1014	35	3	508	3	PGLS	19	17628198	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12868	17628198	41500785	18845	29162											
FAM129C	199786	broad.mit.edu	37	chr19	17648286	17648286	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctctgcttctctgcaGccaccagggaggcacagcat	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17648286G>T	ENST00000335393.4	+	6	760	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000449408.2_5'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	208										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTCTCTGCAGCCACCAGGGA	0.632																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(622-624)Gcc>Tcc		family with sequence similarity 129, member C							61	62	62					19																	17648286		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17648286G>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.622G>T	19.37:g.17648286G>T	ENSP00000335040:p.Ala208Ser					FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000300971.2_Missense_Mutation_p.A208S|FAM129C_ENST00000599124.1_Missense_Mutation_p.A177S|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000601861.1_Missense_Mutation_p.A177S|FAM129C_ENST00000595684.1_Missense_Mutation_p.A208S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A177S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A208S|FAM129C_ENST00000600871.1_Missense_Mutation_p.A154S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A208S	p.A208S	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			6	760	+			208					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.622G>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	g	10.32	1.318922	0.23994	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.42	-2.15	0.07102	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.776011	0.11182	N	0.590881	T	0.12774	0.0310	M	0.65975	2.015	0.09310	N	0.999998	P;B	0.48294	0.908;0.4	B;B	0.39660	0.306;0.121	T	0.30001	-0.9993	10	0.10902	T	0.67	-2.8879	4.3847	0.11311	0.2913:0.3137:0.3951:0.0	.	208;208	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	S	208;208;208;208;154	ENSP00000335040:A208S;ENSP00000333447:A208S;ENSP00000341067:A208S;ENSP00000300971:A208S	ENSP00000300971:A208S	A	+	1	0	FAM129C	17509286	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	-0.304000	0.08199	-0.599000	0.05798	-0.359000	0.07587	GCC		0.632	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		104	411	1	0	1.66795e-42	1	2.03135e-42	104	411					T	17648286	G	T	17648286	3	4	79	1	0	0	0	0	1	0	0	0	5459	971	34	3	644	3	FAM129C	19	17648286	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20088	17648286	41480697	18846	29163											
GLT25D1	79709	broad.mit.edu	37	chr19	17692040	17692040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatgccttctctgtggaGccgctgctcatctaccccac	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17692040G>A	ENST00000252599.4	+	12	1776	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	552					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TCTCTGTGGAGCCGCTGCTCA	0.592																																						ENST00000252599.4																			0											c.(1654-1656)gaG>gaA		collagen beta(1-O)galactosyltransferase 1							219	192	202					19																	17692040		2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17692040G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1656G>A	19.37:g.17692040G>A							p.E552E	NM_024656.2	NP_078932.2					12	1776	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.1656G>A	CCDS12363.1																																																																																				0.592	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		256	1061	0	0	0	1	0	256	1061					A	17692040	G	A	17692040	2	1	79	1	0	0	0	0	0	0	0	1	6495	962	34	2		2	GLT25D1	19	17692040	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43754	17692040	41436943	18847	29164											
GLT25D1	79709	broad.mit.edu	37	chr19	17692188	17692188	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggagcagcaggcactgagcCgtgaggccaagaactcggac	16	11	0	3	rs535742636		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17692188C>A	ENST00000252599.4	+	12	1924	c.1804C>A	c.(1804-1806)Cgt>Agt	p.R602S		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	602					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										GGCACTGAGCCGTGAGGCCAA	0.607																																						ENST00000252599.4																			0											c.(1804-1806)Cgt>Agt		collagen beta(1-O)galactosyltransferase 1							77	66	70					19																	17692188		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17692188C>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1804C>A	19.37:g.17692188C>A	ENSP00000252599:p.Arg602Ser						p.R602S	NM_024656.2	NP_078932.2					12	1924	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.1804C>A	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	1.822	-0.471974	0.04445	.	.	ENSG00000130309	ENST00000252599	T	0.75589	-0.95	4.96	3.9	0.45041	.	0.592880	0.16857	N	0.196670	T	0.33818	0.0876	N	0.00368	-1.59	0.31049	N	0.715398	B	0.06786	0.001	B	0.08055	0.003	T	0.40701	-0.9549	10	0.05620	T	0.96	-36.6751	9.3345	0.38043	0.3653:0.6347:0.0:0.0	.	602	Q8NBJ5	GT251_HUMAN	S	602	ENSP00000252599:R602S	ENSP00000252599:R602S	R	+	1	0	GLT25D1	17553188	0.995000	0.38212	0.998000	0.56505	0.651000	0.38670	2.680000	0.46918	2.298000	0.77334	0.313000	0.20887	CGT		0.607	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		10	350	1	0	2.17888e-05	1	2.22852e-05	10	350					A	17692188	C	A	17692188	3	1	79	1	0	0	0	0	1	0	0	0	6495	652	23	3	1850	3	GLT25D1	19	17692188	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	148	17692188	41436795	18848	29165											
UNC13A	23025	broad.mit.edu	37	chr19	17735744	17735744	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtcttctcacagattTtggcaaagagggtcaggctg	12	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17735744T>C	ENST00000519716.2	-	35	4090	c.4091A>G	c.(4090-4092)aAa>aGa	p.K1364R	UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1452R	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1364	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				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						CTCACAGATTTTGGCAAAGAG	0.582																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4354-4356)aAa>aGa		unc-13 homolog A (C. elegans)							55	60	58					19																	17735744		2004	4181	6185	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17735744T>C	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.4091A>G	19.37:g.17735744T>C	ENSP00000429562:p.Lys1364Arg					UNC13A_ENST00000551649.1_Missense_Mutation_p.K1364R|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1362R|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1364R|UNC13A_ENST00000519716.2_Missense_Mutation_p.K1364R|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1364R	p.K1452R			Q9UPW8	UN13A_HUMAN			36	4354	-			1364			MHD2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4355A>G	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539558	0.45176	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	4.11	4.11	0.48088	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.182364	0.46758	N	0.000279	T	0.22003	0.0530	L	0.56769	1.78	0.39639	D	0.97029	B	0.06786	0.001	B	0.15870	0.014	T	0.05767	-1.0865	10	0.44086	T	0.13	-13.8649	11.3947	0.49834	0.0:0.0:0.0:1.0	.	1364	Q9UPW8	UN13A_HUMAN	R	1364;1452;1364;1364;1364;1362	ENSP00000429562:K1364R;ENSP00000400409:K1452R;ENSP00000252773:K1364R;ENSP00000447236:K1364R;ENSP00000447572:K1364R;ENSP00000446831:K1362R	ENSP00000252773:K1364R	K	-	2	0	UNC13A	17596744	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.824000	0.55723	1.648000	0.50643	0.254000	0.18369	AAA		0.582	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		53	237	0	0	0	1	0	53	237					C	17735744	T	C	17735744	3	2	79	1	0	0	0	0	1	0	0	0	17038	1841	64	4	1056	4	UNC13A	19	17735744	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	43556	17735744	41393239	18849	29166											
UNC13A	23025	broad.mit.edu	37	chr19	17751421	17751421	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgagcagggtgctcatgaCggcaggcacccctgggcaca	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17751421C>T	ENST00000519716.2	-	22	2685	c.2686G>A	c.(2686-2688)Gtc>Atc	p.V896I	UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I|UNC13A_ENST00000428389.2_Missense_Mutation_p.V984I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	896					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						GTGCTCATGACGGCAGGCACC	0.627																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2950-2952)Gtc>Atc		unc-13 homolog A (C. elegans)							71	81	78					19																	17751421		2193	4286	6479	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17751421C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2686G>A	19.37:g.17751421C>T	ENSP00000429562:p.Val896Ile					UNC13A_ENST00000551649.1_Missense_Mutation_p.V896I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V894I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V896I|UNC13A_ENST00000519716.2_Missense_Mutation_p.V896I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V896I	p.V984I			Q9UPW8	UN13A_HUMAN			23	2949	-			896					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2950G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951123	0.73787	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.83419	-1.7;-1.72;-1.7;-1.56;-1.57;-1.71	3.28	3.28	0.37604	.	0.156800	0.41294	U	0.000915	D	0.82296	0.5006	M	0.78049	2.395	0.51482	D	0.999924	P	0.41569	0.755	B	0.39876	0.312	D	0.85414	0.1139	10	0.66056	D	0.02	-28.8359	12.4632	0.55743	0.0:1.0:0.0:0.0	.	896	Q9UPW8	UN13A_HUMAN	I	896;984;896;896;896;894	ENSP00000429562:V896I;ENSP00000400409:V984I;ENSP00000252773:V896I;ENSP00000447236:V896I;ENSP00000447572:V896I;ENSP00000446831:V894I	ENSP00000252773:V896I	V	-	1	0	UNC13A	17612421	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.340000	0.79292	1.842000	0.53543	0.186000	0.17326	GTC		0.627	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	25	0	0	0	1	0	5	25					T	17751421	C	T	17751421	3	4	79	1	0	0	0	0	1	0	0	0	17038	536	19	1	2513	1	UNC13A	19	17751421	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15677	17751421	41377562	18850	29167											
UNC13A	23025	broad.mit.edu	37	chr19	17752235	17752235	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggactcgacgccgtagCgcatggcaaactcgtccaca	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17752235C>T	ENST00000519716.2	-	21	2602	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H|UNC13A_ENST00000428389.2_Missense_Mutation_p.R956H	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	868					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						GACGCCGTAGCGCATGGCAAA	0.572																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2866-2868)cGc>cAc		unc-13 homolog A (C. elegans)							97	99	98					19																	17752235		2180	4283	6463	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17752235C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2603G>A	19.37:g.17752235C>T	ENSP00000429562:p.Arg868His					UNC13A_ENST00000551649.1_Missense_Mutation_p.R868H|UNC13A_ENST00000550896.1_Missense_Mutation_p.R866H|UNC13A_ENST00000252773.7_Missense_Mutation_p.R868H|UNC13A_ENST00000519716.2_Missense_Mutation_p.R868H|UNC13A_ENST00000552293.1_Missense_Mutation_p.R868H	p.R956H			Q9UPW8	UN13A_HUMAN			22	2866	-			868					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2867G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097947	0.76870	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.84298	-1.81;-1.82;-1.8;-1.67;-1.71;-1.83	3.0	3.0	0.34707	.	0.000000	0.64402	U	0.000005	D	0.91250	0.7242	M	0.82056	2.57	0.44042	D	0.996771	D	0.89917	1.0	D	0.87578	0.998	D	0.91487	0.5209	10	0.54805	T	0.06	-10.0808	11.8562	0.52439	0.0:1.0:0.0:0.0	.	868	Q9UPW8	UN13A_HUMAN	H	868;956;868;868;868;866	ENSP00000429562:R868H;ENSP00000400409:R956H;ENSP00000252773:R868H;ENSP00000447236:R868H;ENSP00000447572:R868H;ENSP00000446831:R866H	ENSP00000252773:R868H	R	-	2	0	UNC13A	17613235	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.467000	0.80930	1.706000	0.51276	0.299000	0.19835	CGC		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		48	214	0	0	0	1	0	48	214					T	17752235	C	T	17752235	3	4	79	1	0	0	0	0	1	0	0	0	17038	768	27	1	2600	1	UNC13A	19	17752235	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	814	17752235	41376748	18851	29168											
UNC13A	23025	broad.mit.edu	37	chr19	17756803	17756803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattctcctcccacaccGggttgaggttcccatagatg	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17756803G>A	ENST00000519716.2	-	18	2161	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L|UNC13A_ENST00000428389.2_Missense_Mutation_p.P809L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	721	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCCCACACCGGGTTGAGGTT	0.572																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(2425-2427)cCg>cTg		unc-13 homolog A (C. elegans)							73	69	71					19																	17756803		1943	4140	6083	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756803G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2162C>T	19.37:g.17756803G>A	ENSP00000429562:p.Pro721Leu					UNC13A_ENST00000551649.1_Missense_Mutation_p.P721L|UNC13A_ENST00000550896.1_Missense_Mutation_p.P719L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P721L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P721L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P721L	p.P809L			Q9UPW8	UN13A_HUMAN			19	2425	-			721					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2426C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214299	0.79352	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	3.85	3.85	0.44370	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	U	0.000000	D	0.97776	0.9270	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98755	1.0722	10	0.87932	D	0	-19.6225	13.6311	0.62196	0.0:0.0:1.0:0.0	.	721	Q9UPW8	UN13A_HUMAN	L	721;809;721;721;721;719	ENSP00000429562:P721L;ENSP00000400409:P809L;ENSP00000252773:P721L;ENSP00000447236:P721L;ENSP00000447572:P721L;ENSP00000446831:P719L	ENSP00000252773:P721L	P	-	2	0	UNC13A	17617803	1.000000	0.71417	0.969000	0.41365	0.875000	0.50365	9.620000	0.98373	1.874000	0.54306	0.313000	0.20887	CCG		0.572	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		16	77	0	0	0	1	0	16	77					A	17756803	G	A	17756803	3	1	79	1	0	0	0	0	1	0	0	0	17038	1116	39	1	3053	1	UNC13A	19	17756803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4568	17756803	41372180	18852	29169											
UNC13A	23025	broad.mit.edu	37	chr19	17766716	17766716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtccttgggtggctcaGcctcagggatctgctcagct	12	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17766716G>A	ENST00000519716.2	-	10	1258	c.1259C>T	c.(1258-1260)gCt>gTt	p.A420V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V|UNC13A_ENST00000428389.2_Missense_Mutation_p.A508V	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	420					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						GGGTGGCTCAGCCTCAGGGAT	0.677																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1522-1524)gCt>gTt		unc-13 homolog A (C. elegans)							28	32	31					19																	17766716		2097	4210	6307	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766716G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1259C>T	19.37:g.17766716G>A	ENSP00000429562:p.Ala420Val					UNC13A_ENST00000551649.1_Missense_Mutation_p.A420V|UNC13A_ENST00000550896.1_Missense_Mutation_p.A420V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A420V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A420V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A420V	p.A508V			Q9UPW8	UN13A_HUMAN			11	1522	-			420					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1523C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559814	0.27827	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80994	-1.42;-1.44;-1.42;-1.29;-1.29;-1.42	4.02	4.02	0.46733	.	0.680491	0.13280	U	0.399808	T	0.67785	0.2930	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.54860	-0.8230	10	0.28530	T	0.3	0.0361	11.6373	0.51211	0.0:0.0:1.0:0.0	.	420	Q9UPW8	UN13A_HUMAN	V	420;508;420;420;420;420	ENSP00000429562:A420V;ENSP00000400409:A508V;ENSP00000252773:A420V;ENSP00000447236:A420V;ENSP00000447572:A420V;ENSP00000446831:A420V	ENSP00000252773:A420V	A	-	2	0	UNC13A	17627716	0.000000	0.05858	0.039000	0.18376	0.019000	0.09904	0.074000	0.14662	1.786000	0.52430	0.491000	0.48974	GCT		0.677	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		20	97	0	0	0	1	0	20	97					A	17766716	G	A	17766716	3	1	79	1	0	0	0	0	1	0	0	0	17038	971	34	2	3984	2	UNC13A	19	17766716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9913	17766716	41362267	18853	29170											
MAP1S	55201	broad.mit.edu	37	chr19	17836832	17836832	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcgaattcctggagtaCgtggctgagtctctggagcc	14	10	1	1	rs202224843		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17836832C>T	ENST00000324096.4	+	5	790	c.639C>T	c.(637-639)taC>taT	p.Y213Y	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.Y187Y	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	213	Necessary for the microtubule-organizing center localization.				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						TCCTGGAGTACGTGGCTGAGT	0.701																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(637-639)taC>taT		microtubule-associated protein 1S							25	26	26					19																	17836832		2202	4299	6501	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17836832C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.639C>T	19.37:g.17836832C>T						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.Y187Y	p.Y213Y	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	790	+			213			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.639C>T	CCDS32954.1																																																																																				0.701	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		41	111	0	0	0	1	0	41	111					T	17836832	C	T	17836832	2	4	79	1	0	0	0	0	0	0	0	1	9275	547	19	1		1	MAP1S	19	17836832	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70116	17836832	41292151	18854	29171											
MAP1S	55201	broad.mit.edu	37	chr19	17837219	17837219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtgttcttcaacgcctgCgaggccgcgtcgcggctggc	15	14	2	0	rs370137934		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17837219C>T	ENST00000324096.4	+	5	1177	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	342	Necessary for the microtubule-organizing center localization.				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						TCAACGCCTGCGAGGCCGCGT	0.731																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(1024-1026)tgC>tgT		microtubule-associated protein 1S							6	7	6					19																	17837219		2098	4136	6234	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17837219C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1026C>T	19.37:g.17837219C>T						MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.C316C	p.C342C	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			5	1177	+			342			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.1026C>T	CCDS32954.1																																																																																				0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		15	42	0	0	0	1	0	15	42					T	17837219	C	T	17837219	2	4	79	1	0	0	0	0	0	0	0	1	9275	776	27	1		1	MAP1S	19	17837219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	387	17837219	41291764	18855	29172											
FCHO1	23149	broad.mit.edu	37	chr19	17873639	17873639	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcccatctccaccaaggaGctggcggacttcatccggga	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	ENST00000596536.1	+	5	379	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000597512.1_Silent_p.E39E|FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000595033.1_De_novo_Start_InFrame|FCHO1_ENST00000596951.1_Silent_p.E32E	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	32	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						CCACCAAGGAGCTGGCGGACT	0.597																																						ENST00000595033.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22								FCH domain only 1							104	90	95					19																	17873639		2203	4300	6503	SO:0001819	synonymous_variant	23149							g.chr19:17873639G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.96G>A	19.37:g.17873639G>A						FCHO1_ENST00000599236.1_3'UTR|FCHO1_ENST00000596951.1_Silent_p.E32E|FCHO1_ENST00000594202.1_Silent_p.E32E|FCHO1_ENST00000600676.1_Silent_p.E32E|FCHO1_ENST00000596536.1_Silent_p.E32E|FCHO1_ENST00000389133.4_Silent_p.E32E|FCHO1_ENST00000539407.1_Silent_p.E32E|FCHO1_ENST00000252771.7_Silent_p.E32E|FCHO1_ENST00000597512.1_Silent_p.E39E		NM_001161359.1	NP_001154831.1	O14526	FCHO1_HUMAN			0	186	+								A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Translation_Start_Site	SNP	ENST00000596536.1	37		CCDS32955.1																																																																																				0.597	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		75	418	0	0	0	1	0	75	418					A	17873639	G	A	17873639	2	1	79	1	0	0	0	0	0	0	0	1	5812	962	34	2		2	FCHO1	19	17873639	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36420	17873639	41255344	18856	29173											
FCHO1	23149	broad.mit.edu	37	chr19	17895033	17895033	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctactacaacgtggtgctgCtgcgataccaggtgcgccac	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17895033C>A	ENST00000596536.1	+	25	2498	c.2215C>A	c.(2215-2217)Ctg>Atg	p.L739M	FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000594202.1_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	739	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGTGGTGCTGCTGCGATACCA	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2215-2217)Ctg>Atg		FCH domain only 1							30	24	26					19																	17895033		2202	4300	6502	SO:0001583	missense	23149							g.chr19:17895033C>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2215C>A	19.37:g.17895033C>A	ENSP00000470731:p.Leu739Met		OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_ENST00000596951.1_Missense_Mutation_p.L739M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L739M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L689M|FCHO1_ENST00000596536.1_Missense_Mutation_p.L739M|FCHO1_ENST00000389133.4_Missense_Mutation_p.L739M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L739M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L739M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L746M	p.L739M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			25	2494	+			739					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2215C>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396748	0.62177	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.54279	0.58;0.58;0.58	4.18	3.12	0.35913	Muniscin C-terminal mu homology domain (1);	0.091658	0.43579	D	0.000558	T	0.62841	0.2461	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.983	T	0.63120	-0.6708	10	0.72032	D	0.01	-14.6395	9.1398	0.36897	0.0:0.8846:0.0:0.1154	.	739;739	O14526;O14526-2	FCHO1_HUMAN;.	M	739	ENSP00000252771:L739M;ENSP00000373785:L739M;ENSP00000437978:L739M	ENSP00000252771:L739M	L	+	1	2	FCHO1	17756033	0.977000	0.34250	0.971000	0.41717	0.934000	0.57294	0.894000	0.28350	0.857000	0.35407	0.313000	0.20887	CTG		0.652	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		27	83	1	0	2.48779e-11	1	2.65321e-11	27	83					A	17895033	C	A	17895033	3	1	79	1	0	0	0	0	1	0	0	0	5812	796	28	3	2301	3	FCHO1	19	17895033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21394	17895033	41233950	18857	29174											
B3GNT3	10331	broad.mit.edu	37	chr19	17919059	17919059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcctcctcttcctggtggGcacagcctccaacccgcacg	10	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17919059G>A	ENST00000318683.6	+	2	590	c.443G>A	c.(442-444)gGc>gAc	p.G148D	B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	148					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTCCTGGTGGGCACAGCCTCC	0.672																																						ENST00000318683.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(442-444)gGc>gAc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3							33	33	33					19																	17919059		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17919059G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.443G>A	19.37:g.17919059G>A	ENSP00000321874:p.Gly148Asp					B3GNT3_ENST00000595387.1_Missense_Mutation_p.G148D	p.G148D	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN			2	590	+			148					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.443G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253128	0.80135	.	.	ENSG00000179913	ENST00000318683	D	0.83673	-1.75	3.92	3.92	0.45320	.	0.000000	0.85682	U	0.000000	D	0.93598	0.7956	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94776	0.7949	10	0.87932	D	0	.	11.4409	0.50096	0.0:0.0:1.0:0.0	.	148	Q9Y2A9	B3GN3_HUMAN	D	148	ENSP00000321874:G148D	ENSP00000321874:G148D	G	+	2	0	B3GNT3	17780059	1.000000	0.71417	0.967000	0.41034	0.749000	0.42624	9.080000	0.94040	1.733000	0.51620	0.297000	0.19635	GGC		0.672	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		54	237	0	0	0	1	0	54	237					A	17919059	G	A	17919059	3	1	79	1	0	0	0	0	1	0	0	0	1259	1203	42	2	445	2	B3GNT3	19	17919059	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24026	17919059	41209924	18858	29175											
JAK3	3718	broad.mit.edu	37	chr19	17937567	17937567	+	Silent	SNP	G	G	T													aggagctatgaaaaggacagGgagtggtgtttgccctctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937567G>T	ENST00000527670.1	-	23	3389	c.3360C>A	c.(3358-3360)tcC>tcA	p.S1120S	JAK3_ENST00000458235.1_Silent_p.S1120S			P52333	JAK3_HUMAN	Janus kinase 3	1120					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)	AAAAGGACAGGGAGTGGTGTT	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(3358-3360)tcC>tcA		Janus kinase 3							173	146	155					19																	17937567		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937567G>T	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.3360C>A	19.37:g.17937567G>T						JAK3_ENST00000527670.1_Silent_p.S1120S	p.S1120S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			24	3459	-			1120					Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.3360C>A	CCDS12366.1																																																																																				0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		118	582	1	0	7.90946e-78	1	1.01002e-77	118	582					T	17937567	G	T	17937567	2	4	79	1	0	0	0	0	0	0	0	1	7969	1219	43	3		3	JAK3	19	17937567	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18508	17937567	41191416	18859	29176	186	2									
JAK3	3718	broad.mit.edu	37	chr19	17937570	17937570	+	Silent	SNP	G	G	A													agctatgaaaaggacagggaGtggtgtttgccctctgggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937570G>A	ENST00000527670.1	-	23	3386	c.3357C>T	c.(3355-3357)caC>caT	p.H1119H	JAK3_ENST00000458235.1_Silent_p.H1119H			P52333	JAK3_HUMAN	Janus kinase 3	1119					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)	AGGACAGGGAGTGGTGTTTGC	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(3355-3357)caC>caT		Janus kinase 3							179	149	159					19																	17937570		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937570G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3357C>T	19.37:g.17937570G>A						JAK3_ENST00000527670.1_Silent_p.H1119H	p.H1119H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			24	3456	-			1119					Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.3357C>T	CCDS12366.1																																																																																				0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		140	550	0	0	0	1	0	140	550					A	17937570	G	A	17937570	2	1	79	1	0	0	0	0	0	0	0	1	7969	1020	36	2		2	JAK3	19	17937570	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3	17937570	41191413	18860	29177	186	2									
JAK3	3718	broad.mit.edu	37	chr19	17943451	17943451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcagctgtttcacggCcaccagggcacctgtattgt	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17943451C>T	ENST00000527670.1	-	18	2586	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	JAK3_ENST00000534444.1_Missense_Mutation_p.A853T|JAK3_ENST00000458235.1_Missense_Mutation_p.A853T			P52333	JAK3_HUMAN	Janus kinase 3	853	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)	TGTTTCACGGCCACCAGGGCA	0.582		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2557-2559)Gcc>Acc		Janus kinase 3							81	71	75					19																	17943451		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17943451C>T	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.2557G>A	19.37:g.17943451C>T	ENSP00000432511:p.Ala853Thr					JAK3_ENST00000527670.1_Missense_Mutation_p.A853T|JAK3_ENST00000534444.1_Missense_Mutation_p.A853T	p.A853T	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			19	2656	-			853			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2557G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066950	0.93898	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.95885	-1.38;-1.38;-3.84	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060550	0.64402	D	0.000004	D	0.98124	0.9381	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.74023	0.982;0.92	D	0.98936	1.0789	10	0.87932	D	0	-19.9877	14.7749	0.69724	0.0:1.0:0.0:0.0	.	853;853	P52333-2;P52333	.;JAK3_HUMAN	T	853	ENSP00000391676:A853T;ENSP00000432511:A853T;ENSP00000436421:A853T	ENSP00000391676:A853T	A	-	1	0	JAK3	17804451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.165000	0.77544	2.433000	0.82419	0.549000	0.68633	GCC		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		115	446	0	0	0	1	0	115	446					T	17943451	C	T	17943451	3	4	79	1	0	0	0	0	1	0	0	0	7969	739	26	2	841	2	JAK3	19	17943451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5881	17943451	41185532	18861	29178											
JAK3	3718	broad.mit.edu	37	chr19	17945726	17945726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcccagaccgtggcgcCgaagccccacttgtcagctt	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945726C>T	ENST00000527670.1	-	15	2163	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	JAK3_ENST00000534444.1_Missense_Mutation_p.G712S|JAK3_ENST00000458235.1_Missense_Mutation_p.G712S			P52333	JAK3_HUMAN	Janus kinase 3	712	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACCGTGGCGCCGAAGCCCCAC	0.622		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2134-2136)Ggc>Agc		Janus kinase 3							69	73	72					19																	17945726		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945726C>T	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.2134G>A	19.37:g.17945726C>T	ENSP00000432511:p.Gly712Ser					JAK3_ENST00000527670.1_Missense_Mutation_p.G712S|JAK3_ENST00000534444.1_Missense_Mutation_p.G712S	p.G712S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			16	2233	-			712			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2134G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983442	0.93044	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.87571	-2.27;-2.27;-2.27	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95175	0.8436	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.78314	0.991;0.871	D	0.96490	0.9363	10	0.87932	D	0	-18.3596	15.5458	0.76097	0.0:1.0:0.0:0.0	.	712;712	P52333-2;P52333	.;JAK3_HUMAN	S	712	ENSP00000391676:G712S;ENSP00000432511:G712S;ENSP00000436421:G712S	ENSP00000391676:G712S	G	-	1	0	JAK3	17806726	1.000000	0.71417	0.918000	0.36340	0.887000	0.51463	7.375000	0.79646	2.255000	0.74692	0.555000	0.69702	GGC		0.622	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		56	501	0	0	0	1	0	56	501					T	17945726	C	T	17945726	3	4	79	1	0	0	0	0	1	0	0	0	7969	652	23	1	1276	1	JAK3	19	17945726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2275	17945726	41183257	18862	29179											
JAK3	3718	broad.mit.edu	37	chr19	17945947	17945947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcagcttgatgaagggCgggctcccatcagccccctc	10	16	3	2	rs200499852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000458235.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1990-1992)ccG>ccA		Janus kinase 3		C		0,4406		0,0,2203	49	48	48		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945947C>T	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.1992G>A	19.37:g.17945947C>T						JAK3_ENST00000527670.1_Silent_p.P664P|JAK3_ENST00000534444.1_Silent_p.P664P	p.P664P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			15	2091	-			664			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1992G>A	CCDS12366.1																																																																																				0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		62	309	0	0	0	1	0	62	309					T	17945947	C	T	17945947	2	4	79	1	0	0	0	0	0	0	0	1	7969	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	221	17945947	41183036	18863	29180											
JAK3	3718	broad.mit.edu	37	chr19	17946822	17946822	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acgttttcgcagatacatgtCtatggcccccaggtgtacaa	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17946822C>A	ENST00000527670.1	-	13	1854	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y|JAK3_ENST00000458235.1_Missense_Mutation_p.D609Y|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	609	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGATACATGTCTATGGCCCCC	0.582		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1825-1827)Gac>Tac		Janus kinase 3							104	93	97					19																	17946822		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17946822C>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1825G>T	19.37:g.17946822C>A	ENSP00000432511:p.Asp609Tyr					JAK3_ENST00000527670.1_Missense_Mutation_p.D609Y|JAK3_ENST00000534444.1_Missense_Mutation_p.D609Y	p.D609Y	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			14	1924	-			609			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1825G>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852453	0.51270	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.62105	0.05;0.05;0.05	4.96	4.96	0.65561	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	0.80592	0.4652	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.83983	0.0333	10	0.87932	D	0	-38.7413	15.7013	0.77544	0.0:1.0:0.0:0.0	.	609;609	P52333-2;P52333	.;JAK3_HUMAN	Y	609	ENSP00000391676:D609Y;ENSP00000432511:D609Y;ENSP00000436421:D609Y	ENSP00000391676:D609Y	D	-	1	0	JAK3	17807822	1.000000	0.71417	0.721000	0.30653	0.031000	0.12232	7.320000	0.79064	2.294000	0.77228	0.455000	0.32223	GAC		0.582	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		83	313	1	0	7.63117e-38	1	9.17446e-38	83	313					A	17946822	C	A	17946822	3	1	79	1	0	0	0	0	1	0	0	0	7969	913	32	3	1593	3	JAK3	19	17946822	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	875	17946822	41182161	18864	29181											
RPL18A	6142	broad.mit.edu	37	chr19	17973031	17973031	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgctgtcacccagtgCtgtaagctgcctgtcccgcc	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	ENST00000222247.5	+	3	408	c.327C>A	c.(325-327)tgC>tgA	p.C109*	RPL18A_ENST00000599898.1_Splice_Site_p.C70*|RPL18A_ENST00000600147.1_Splice_Site_p.C109*|RPL18A_ENST00000599870.1_Splice_Site_p.C80*|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	109					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCACCCAGTGCTGTAAGCTGC	0.607																																						ENST00000600147.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.e3+1		ribosomal protein L18a							56	60	58					19																	17973031		2203	4300	6503	SO:0001630	splice_region_variant	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17973031C>A	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.328+1C>A	19.37:g.17973031C>A						RPL18A_ENST00000222247.5_Splice_Site_p.C109_splice|RPL18A_ENST00000599870.1_Splice_Site_p.C80_splice|RPL18A_ENST00000599898.1_Splice_Site_p.C70_splice	p.C109_splice			Q02543	RL18A_HUMAN			3	363	+			109						Splice_Site	SNP	ENST00000222247.5	37	c.328_splice	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411930	0.62511	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.18	3.14	0.36123	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9737	0.41770	0.0:0.8976:0.0:0.1024	.	.	.	.	X	109	.	ENSP00000222247:C109X	C	+	3	2	RPL18A	17834031	1.000000	0.71417	0.994000	0.49952	0.247000	0.25773	4.786000	0.62425	0.897000	0.36392	0.557000	0.71058	TGC		0.607	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980	Nonsense_Mutation	86	521	1	0	4.64247e-43	1	5.66271e-43	86	521					A	17973031	C	A	17973031	5	1	79	1	0	0	0	0	0	0	1	0	13615	811	28	3	337	3	RPL18A	19	17973031	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26209	17973031	41155952	18865	29182											
SLC5A5	6528	broad.mit.edu	37	chr19	17988625	17988625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtatggcgtgaaccaggcGcaggtgcagcgctacgtggc	16	10	0	1	rs148887708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988625G>A	ENST00000222248.3	+	6	1139	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	264					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						TGAACCAGGCGCAGGTGCAGC	0.607																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(790-792)gcG>gcA		solute carrier family 5 (sodium/iodide cotransporter), member 5							151	125	134					19																	17988625		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17988625G>A		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.792G>A	19.37:g.17988625G>A							p.A264A	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			6	1139	+			264					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.792G>A	CCDS12368.1																																																																																				0.607	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			100	454	0	0	0	1	0	100	454					A	17988625	G	A	17988625	2	1	79	1	0	0	0	0	0	0	0	1	14718	1074	38	1		1	SLC5A5	19	17988625	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15594	17988625	41140358	18866	29183											
SLC5A5	6528	broad.mit.edu	37	chr19	17988836	17988836	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgctgcctgctgtggcatCgtcatgtttgtgttctacac	11	11	2	0	rs550545031		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988836C>T	ENST00000222248.3	+	7	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	301					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						GCTGTGGCATCGTCATGTTTG	0.627																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(901-903)atC>atT		solute carrier family 5 (sodium/iodide cotransporter), member 5							118	84	95					19																	17988836		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17988836C>T		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.903C>T	19.37:g.17988836C>T							p.I301I	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			7	1250	+			301					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.903C>T	CCDS12368.1																																																																																				0.627	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			27	252	0	0	0	1	0	27	252					T	17988836	C	T	17988836	2	4	79	1	0	0	0	0	0	0	0	1	14718	874	31	1		1	SLC5A5	19	17988836	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211	17988836	41140147	18867	29184											
CCDC124	115098	broad.mit.edu	37	chr19	18054174	18054174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatcgaggacgccattGcagtgctcaggtaacggggc	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18054174G>A	ENST00000597436.1	+	4	561	c.454G>A	c.(454-456)Gca>Aca	p.A152T	CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	152					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						GGACGCCATTGCAGTGCTCAG	0.701																																						ENST00000597436.1																			0				central_nervous_system(1)|kidney(2)	3						c.(454-456)Gca>Aca		coiled-coil domain containing 124							17	18	17					19																	18054174		2185	4279	6464	SO:0001583	missense	115098						DNA binding	g.chr19:18054174G>A	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.454G>A	19.37:g.18054174G>A	ENSP00000471455:p.Ala152Thr					CCDC124_ENST00000445755.2_Missense_Mutation_p.A152T	p.A152T	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN			4	561	+			152						Missense_Mutation	SNP	ENST00000597436.1	37	c.454G>A	CCDS12369.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146717	0.37923	.	.	ENSG00000007080	ENST00000445755	T	0.47177	0.85	4.72	3.68	0.42216	.	0.056223	0.64402	D	0.000001	T	0.43299	0.1241	M	0.75884	2.315	0.80722	D	1	B	0.31256	0.316	B	0.29942	0.109	T	0.25328	-1.0135	10	0.11794	T	0.64	-7.0596	10.5857	0.45282	0.0972:0.0:0.9028:0.0	.	152	Q96CT7	CC124_HUMAN	T	152	ENSP00000408730:A152T	ENSP00000408730:A152T	A	+	1	0	CCDC124	17915174	1.000000	0.71417	0.805000	0.32314	0.197000	0.23852	3.995000	0.57001	0.963000	0.38082	0.491000	0.48974	GCA		0.701	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442		7	35	0	0	0	1	0	7	35					A	18054174	G	A	18054174	3	1	79	1	0	0	0	0	1	0	0	0	2767	1319	46	2	464	2	CCDC124	19	18054174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65338	18054174	41074809	18868	29185											
KCNN1	3780	broad.mit.edu	37	chr19	18092875	18092875	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatctgccccggcaccgtgCtgctggtcttcagcatctcc	9	18	4	0	rs376715013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18092875C>A	ENST00000222249.9	+	5	1175	c.856C>A	c.(856-858)Ctg>Atg	p.L286M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	286					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)	CGGCACCGTGCTGCTGGTCTT	0.667																																						ENST00000601725.1																			0																				42	30	34					19																	18092875		2203	4300	6503	SO:0001583	missense	0							g.chr19:18092875C>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.856C>A	19.37:g.18092875C>A	ENSP00000476519:p.Leu286Met													0	491	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	C	18.71	3.681795	0.68042	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.11	2.88	0.33553	.	0.000000	0.64402	D	0.000007	T	0.78648	0.4316	M	0.88704	2.975	0.46203	D	0.998929	D	0.89917	1.0	D	0.80764	0.994	T	0.79831	-0.1637	9	0.87932	D	0	-15.4501	8.0594	0.30625	0.0:0.7347:0.0:0.2653	.	286	Q92952	KCNN1_HUMAN	M	303;286	.	ENSP00000222249:L303M	L	+	1	2	KCNN1	17953875	0.995000	0.38212	1.000000	0.80357	0.934000	0.57294	3.218000	0.51192	1.117000	0.41842	0.561000	0.74099	CTG		0.667	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		12	34	1	0	2.27111e-07	1	2.35674e-07	12	34					A	18092875	C	A	18092875	3	1	79	1	0	0	0	0	1	0	0	0	8108	796	28	3	866	3	KCNN1	19	18092875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38701	18092875	41036108	18869	29186											
ARRDC2	27106	broad.mit.edu	37	chr19	18119532	18119532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcagataccggggagaCcacgacgctgcctcctgggc	13	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	ENST00000222250.4	+	2	430	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ARRDC2_ENST00000379656.3_Missense_Mutation_p.T91I|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	96					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACCGGGGAGACCACGACGCTG	0.657																																						ENST00000222250.4																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(286-288)aCc>aTc		arrestin domain containing 2							68	71	70					19																	18119532		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18119532C>T		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.287C>T	19.37:g.18119532C>T	ENSP00000222250:p.Thr96Ile					ARRDC2_ENST00000379656.2_Missense_Mutation_p.T91I|ARRDC2_ENST00000595712.1_3'UTR	p.T96I	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN			2	430	+			96					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.287C>T	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	C	6.628	0.484246	0.12641	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.13901	3.38;2.55	4.38	0.983	0.19767	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.742565	0.13154	N	0.409615	T	0.06781	0.0173	N	0.12637	0.245	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.42413	-0.9453	10	0.20046	T	0.44	-1.567	8.174	0.31270	0.0:0.5569:0.0:0.4431	.	96;91	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	I	91;96	ENSP00000368977:T91I;ENSP00000222250:T96I	ENSP00000222250:T96I	T	+	2	0	ARRDC2	17980532	0.001000	0.12720	0.003000	0.11579	0.550000	0.35303	0.229000	0.17833	0.080000	0.16959	0.561000	0.74099	ACC		0.657	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		77	434	0	0	0	1	0	77	434					T	18119532	C	T	18119532	3	4	79	1	0	0	0	0	1	0	0	0	984	507	18	2	556	2	ARRDC2	19	18119532	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26657	18119532	41009451	18870	29187											
IL12RB1	3594	broad.mit.edu	37	chr19	18187135	18187135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctgaggtccgcagtcGccctagaataaaaacatatt	7	11	1	2	rs193097863	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18187135G>A	ENST00000600835.2	-	7	850	c.552C>T	c.(550-552)ggC>ggT	p.G184G	IL12RB1_ENST00000322153.7_Silent_p.G184G|IL12RB1_ENST00000593993.2_Silent_p.G184G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	184	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)	p.G184G(3)		endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCCGCAGTCGCCCTAGAATA	0.333													G|||	2	0.000399361	0.0	0.0	5008	,	,		21705	0.0		0.002	False		,,,				2504	0.0					ENST00000600835.1																			3	Substitution - coding silent(3)	p.G184G(3)	endometrium(2)|pancreas(1)	endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(550-552)ggC>ggT		interleukin 12 receptor, beta 1																																				SO:0001819	synonymous_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18187135G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.552C>T	19.37:g.18187135G>A						IL12RB1_ENST00000322153.6_Silent_p.G184G|IL12RB1_ENST00000593993.1_Silent_p.G184G|IL12RB1_ENST00000430026.2_Silent_p.G184G	p.G184G			P42701	I12R1_HUMAN			7	855	-			184			Fibronectin type-III 2.		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	ENST00000600835.2	37	c.552C>T	CCDS54232.1																																																																																				0.333	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			8	198	0	0	0	1	0	8	198					A	18187135	G	A	18187135	2	1	79	1	0	0	0	0	0	0	0	1	7656	1074	38	1		1	IL12RB1	19	18187135	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67603	18187135	40941848	18871	29188											
MAST3	23031	broad.mit.edu	37	chr19	18239701	18239701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctggtcggccagtcacGgaggaagccatgcgaaagcg	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	ENST00000262811.6	+	12	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	359							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						GGCCAGTCACGGAGGAAGCCA	0.597																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1075-1077)cGg>cAg		microtubule associated serine/threonine kinase 3							76	80	79					19																	18239701		2014	4177	6191	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18239701G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1076G>A	19.37:g.18239701G>A	ENSP00000262811:p.Arg359Gln						p.R359Q	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			12	1076	+			359					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1076G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102796	0.56183	.	.	ENSG00000099308	ENST00000262811	T	0.68479	-0.33	5.27	5.27	0.74061	.	0.236652	0.40818	N	0.001014	T	0.43389	0.1245	N	0.08118	0	0.49483	D	0.999798	B	0.34329	0.449	B	0.20767	0.031	T	0.44128	-0.9348	10	0.18276	T	0.48	-20.9685	17.8957	0.88887	0.0:0.0:1.0:0.0	.	359	O60307	MAST3_HUMAN	Q	359	ENSP00000262811:R359Q	ENSP00000262811:R359Q	R	+	2	0	MAST3	18100701	1.000000	0.71417	0.980000	0.43619	0.910000	0.53928	7.891000	0.87319	2.460000	0.83146	0.561000	0.74099	CGG		0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		61	302	0	0	0	1	0	61	302					A	18239701	G	A	18239701	3	1	79	1	0	0	0	0	1	0	0	0	9367	1116	39	1	1122	1	MAST3	19	18239701	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52566	18239701	40889282	18872	29189											
MAST3	23031	broad.mit.edu	37	chr19	18245404	18245404	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtctgctcatcacctcGcttggccacatcaagctcac	6	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	ENST00000262811.6	+	15	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCATCACCTCGCTTGGCCACA	0.627																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1498-1500)tcG>tcA		microtubule associated serine/threonine kinase 3							47	51	49					19																	18245404		2164	4279	6443	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18245404G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1500G>A	19.37:g.18245404G>A							p.S500S	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			15	1500	+			500			Protein kinase.		Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.1500G>A	CCDS46014.1																																																																																				0.627	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		23	66	0	0	0	1	0	23	66					A	18245404	G	A	18245404	2	1	79	1	0	0	0	0	0	0	0	1	9367	1074	38	1		1	MAST3	19	18245404	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5703	18245404	40883579	18873	29190											
MAST3	23031	broad.mit.edu	37	chr19	18249831	18249831	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctccctcccacagcacgttCggaacgttaccgccatctgg	8	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249831C>T	ENST00000262811.6	+	19	2015	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	672	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						ACAGCACGTTCGGAACGTTAC	0.597																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2014-2016)tCg>tTg		microtubule associated serine/threonine kinase 3							43	48	46					19																	18249831		2119	4246	6365	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18249831C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2015C>T	19.37:g.18249831C>T	ENSP00000262811:p.Ser672Leu						p.S672L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			19	2015	+			672			AGC-kinase C-terminal.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2015C>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363653	0.61513	.	.	ENSG00000099308	ENST00000262811	T	0.23754	1.89	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	T	0.33904	0.0879	M	0.79693	2.465	0.58432	D	0.999999	B	0.10296	0.003	B	0.12837	0.008	T	0.35574	-0.9783	10	0.56958	D	0.05	-12.0036	14.9224	0.70851	0.0:1.0:0.0:0.0	.	672	O60307	MAST3_HUMAN	L	672	ENSP00000262811:S672L	ENSP00000262811:S672L	S	+	2	0	MAST3	18110831	1.000000	0.71417	0.533000	0.28001	0.029000	0.11900	7.713000	0.84693	1.941000	0.56285	0.313000	0.20887	TCG		0.597	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		4	36	0	0	0	1	0	4	36					T	18249831	C	T	18249831	3	4	79	1	0	0	0	0	1	0	0	0	9367	893	31	1	2089	1	MAST3	19	18249831	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4427	18249831	40879152	18874	29191											
MAST3	23031	broad.mit.edu	37	chr19	18249857	18249857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaccgccatctgggctccGaggacgacgagaccaatgat	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	ENST00000262811.6	+	19	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	681	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTGGGCTCCGAGGACGACGA	0.617																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2041-2043)Gag>Aag		microtubule associated serine/threonine kinase 3							51	57	55					19																	18249857		2092	4230	6322	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18249857G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2041G>A	19.37:g.18249857G>A	ENSP00000262811:p.Glu681Lys						p.E681K	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			19	2041	+			681			AGC-kinase C-terminal.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2041G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883681	0.72410	.	.	ENSG00000099308	ENST00000262811	T	0.24350	1.86	3.95	3.95	0.45737	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.061031	0.64402	D	0.000005	T	0.45155	0.1328	M	0.83012	2.62	0.80722	D	1	D	0.53151	0.958	P	0.53760	0.734	T	0.51371	-0.8714	10	0.38643	T	0.18	-26.804	14.9224	0.70851	0.0:0.0:1.0:0.0	.	681	O60307	MAST3_HUMAN	K	681	ENSP00000262811:E681K	ENSP00000262811:E681K	E	+	1	0	MAST3	18110857	1.000000	0.71417	0.776000	0.31678	0.139000	0.21198	7.882000	0.87258	1.941000	0.56285	0.313000	0.20887	GAG		0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		6	37	0	0	0	1	0	6	37					A	18249857	G	A	18249857	3	1	79	1	0	0	0	0	1	0	0	0	9367	1059	37	1	2115	1	MAST3	19	18249857	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	18249857	40879126	18875	29192											
MAST3	23031	broad.mit.edu	37	chr19	18252741	18252741	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagcccactcctaccttcgCtgaaaggagcttcagtgaag	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18252741C>A	ENST00000262811.6	+	20	2168	c.2168C>A	c.(2167-2169)gCt>gAt	p.A723D	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	723							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						CCTACCTTCGCTGAAAGGAGC	0.617																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2167-2169)gCt>gAt		microtubule associated serine/threonine kinase 3							26	28	28					19																	18252741		2013	4182	6195	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18252741C>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2168C>A	19.37:g.18252741C>A	ENSP00000262811:p.Ala723Asp						p.A723D	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			20	2168	+			723					Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2168C>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597667	0.46318	.	.	ENSG00000099308	ENST00000262811	T	0.67345	-0.26	4.88	4.88	0.63580	Protein kinase-like domain (1);	0.206159	0.41823	D	0.000806	T	0.52517	0.1739	L	0.29908	0.895	0.45852	D	0.998719	B	0.23377	0.084	B	0.19148	0.024	T	0.48559	-0.9025	10	0.13108	T	0.6	-6.6205	15.1669	0.72837	0.0:1.0:0.0:0.0	.	723	O60307	MAST3_HUMAN	D	723	ENSP00000262811:A723D	ENSP00000262811:A723D	A	+	2	0	MAST3	18113741	0.978000	0.34361	0.455000	0.27031	0.849000	0.48306	6.888000	0.75622	2.270000	0.75569	0.511000	0.50034	GCT		0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		13	47	1	0	2.27111e-07	1	2.35674e-07	13	47					A	18252741	C	A	18252741	3	1	79	1	0	0	0	0	1	0	0	0	9367	797	28	3	2246	3	MAST3	19	18252741	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2884	18252741	40876242	18876	29193											
PIK3R2	5296	broad.mit.edu	37	chr19	18273018	18273018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtcccccagcgctgcCgcctaaaccccccaaggcaa	7	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18273018C>T	ENST00000593731.1	+	8	1468	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PIK3R2_ENST00000222254.8_Missense_Mutation_p.P303L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	303					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)	CCAGCGCTGCCGCCTAAACCC	0.617																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(907-909)cCg>cTg		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							24	24	24					19																	18273018		2201	4297	6498	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18273018C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.908C>T	19.37:g.18273018C>T	ENSP00000471914:p.Pro303Leu					PIK3R2_ENST00000222254.7_Missense_Mutation_p.P303L	p.P303L			O00459	P85B_HUMAN			8	1468	+			303					Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.908C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437493	0.83885	.	.	ENSG00000105647	ENST00000222254	T	0.52057	0.68	4.16	4.16	0.48862	.	0.114304	0.64402	D	0.000010	T	0.70002	0.3174	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76402	-0.2972	10	0.87932	D	0	-12.1593	15.8108	0.78561	0.0:1.0:0.0:0.0	.	303	O00459	P85B_HUMAN	L	303	ENSP00000222254:P303L	ENSP00000222254:P303L	P	+	2	0	PIK3R2	18134018	1.000000	0.71417	0.933000	0.37362	0.752000	0.42762	7.627000	0.83176	2.054000	0.61138	0.491000	0.48974	CCG		0.617	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		17	116	0	0	0	1	0	17	116					T	18273018	C	T	18273018	3	4	79	1	0	0	0	0	1	0	0	0	11961	652	23	1	934	1	PIK3R2	19	18273018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20277	18273018	40855965	18877	29194											
PIK3R2	5296	broad.mit.edu	37	chr19	18279918	18279918	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggacggcgacaccaagcaCtgcgtcatctaccgcacggc	12	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18279918C>A	ENST00000593731.1	+	16	2561	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q	PIK3R2_ENST00000222254.8_Missense_Mutation_p.H667Q			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	667	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	ACACCAAGCACTGCGTCATCT	0.682																																						ENST00000593731.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(1999-2001)caC>caA		phosphoinositide-3-kinase, regulatory subunit 2 (beta)							41	40	41					19																	18279918		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18279918C>A		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.2001C>A	19.37:g.18279918C>A	ENSP00000471914:p.His667Gln					PIK3R2_ENST00000222254.7_Missense_Mutation_p.H667Q	p.H667Q			O00459	P85B_HUMAN			16	2561	+			667			SH2 2.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.2001C>A	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627696	0.87560	.	.	ENSG00000105647	ENST00000222254	D	0.91792	-2.91	4.12	4.12	0.48240	SH2 motif (4);	0.054146	0.64402	D	0.000001	D	0.97514	0.9186	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99066	1.0832	10	0.87932	D	0	-33.9436	16.2136	0.82186	0.0:1.0:0.0:0.0	.	667	O00459	P85B_HUMAN	Q	667	ENSP00000222254:H667Q	ENSP00000222254:H667Q	H	+	3	2	PIK3R2	18140918	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.738000	0.62073	2.251000	0.74343	0.448000	0.29417	CAC		0.682	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		27	291	1	0	4.22769e-11	1	4.50498e-11	27	291					A	18279918	C	A	18279918	3	1	79	1	0	0	0	0	1	0	0	0	11961	564	20	3	2059	3	PIK3R2	19	18279918	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6900	18279918	40849065	18878	29195											
IFI30	10437	broad.mit.edu	37	chr19	18285994	18285994	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catggctgttggtcatggagAtcctcaatgtcacgctggtg	13	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18285994A>T	ENST00000407280.3	+	2	452	c.277A>T	c.(277-279)Atc>Ttc	p.I93F	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	93					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GGTCATGGAGATCCTCAATGT	0.607																																						ENST00000407280.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(277-279)Atc>Ttc		interferon, gamma-inducible protein 30							45	45	45					19																	18285994		2083	4218	6301	SO:0001583	missense	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18285994A>T	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.277A>T	19.37:g.18285994A>T	ENSP00000384886:p.Ile93Phe					PIK3R2_ENST00000593731.1_3'UTR	p.I93F	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN			2	345	+			93					Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	c.277A>T	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136738	0.56936	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.95	3.92	0.45320	.	.	.	.	.	T	0.65933	0.2739	L	0.47078	1.49	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.64871	-0.6305	8	0.44086	T	0.13	-1.1563	10.1999	0.43077	0.9147:0.0:0.0853:0.0	.	93	P13284	GILT_HUMAN	F	93	.	ENSP00000384886:I93F	I	+	1	0	IFI30	18146994	0.998000	0.40836	0.980000	0.43619	0.077000	0.17291	3.633000	0.54295	1.996000	0.58369	0.402000	0.26972	ATC		0.607	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		10	45	0	0	0	1	0	10	45					T	18285994	A	T	18285994	3	4	79	1	0	0	0	0	1	0	0	0	7545	333	12	5	283	5	IFI30	19	18285994	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6076	18285994	40842989	18879	29196											
MPV17L2	84769	broad.mit.edu	37	chr19	18305800	18305800	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtggcctgctgcgcagttCgtgaacttcctcttcgtgcc	12	13	1	1	rs200247021		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	ENST00000599612.2	+	4	568	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	156						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CTGCGCAGTTCGTGAACTTCC	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11026	0.0		0.0	False		,,,				2504	0.0					ENST00000534474.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(391-393)Cgt>Tgt		MPV17 mitochondrial membrane protein-like 2							111	108	109					19																	18305800		2052	4187	6239	SO:0001819	synonymous_variant	84769					integral to membrane		g.chr19:18305800C>T	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.468C>T	19.37:g.18305800C>T						MPV17L2_ENST00000599612.2_Silent_p.F156F	p.R131C			Q567V2	M17L2_HUMAN			3	441	+			137					Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	37	c.391C>T	CCDS42522.1																																																																																				0.667	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		66	331	0	0	0	1	0	66	331					T	18305800	C	T	18305800	2	4	79	1	0	0	0	0	0	0	0	1	9788	883	31	1		1	MPV17L2	19	18305800	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19806	18305800	40823183	18880	29197											
MPV17L2	84769	broad.mit.edu	37	chr19	18305857	18305857	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctacatcaacggcctgacGctgggctgggacacgtacct	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	ENST00000599612.2	+	4	625	c.525G>A	c.(523-525)acG>acA	p.T175T		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	175						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACGGCCTGACGCTGGGCTGGG	0.622																																						ENST00000534474.2																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(448-450)Gct>Act		MPV17 mitochondrial membrane protein-like 2							109	110	110					19																	18305857		2090	4220	6310	SO:0001819	synonymous_variant	84769					integral to membrane		g.chr19:18305857G>A	AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.525G>A	19.37:g.18305857G>A						MPV17L2_ENST00000599612.2_Silent_p.T175T	p.A150T			Q567V2	M17L2_HUMAN			3	498	+			0					Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	SNP	ENST00000599612.2	37	c.448G>A	CCDS42522.1																																																																																				0.622	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683		101	404	0	0	0	1	0	101	404					A	18305857	G	A	18305857	2	1	79	1	0	0	0	0	0	0	0	1	9788	1074	38	1		1	MPV17L2	19	18305857	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	18305857	40823126	18881	29198											
RAB3A	5864	broad.mit.edu	37	chr19	18311216	18311216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagcgccccggtagtatgCggtggtgatggtccggtacc	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18311216C>T	ENST00000222256.4	-	3	446	c.268G>A	c.(268-270)Gca>Aca	p.A90T	RAB3A_ENST00000464076.3_5'UTR	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	90					axonogenesis (GO:0007409)|constitutive secretory pathway (GO:0045054)|glutamate secretion (GO:0014047)|GTP catabolic process (GO:0006184)|lung development (GO:0030324)|maintenance of presynaptic active zone structure (GO:0048790)|mitochondrion organization (GO:0007005)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|post-embryonic development (GO:0009791)|protein transport (GO:0015031)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|respiratory system process (GO:0003016)|response to electrical stimulus (GO:0051602)|sensory perception of touch (GO:0050975)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle recycling (GO:0036465)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|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)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGGTAGTATGCGGTGGTGATG	0.552																																						ENST00000222256.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(268-270)Gca>Aca		RAB3A, member RAS oncogene family							212	168	183					19																	18311216		2203	4300	6503	SO:0001583	missense	5864				glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	g.chr19:18311216C>T		CCDS12372.1	19p13.2	2008-07-17			ENSG00000105649	ENSG00000105649		"RAB, member RAS oncogene"	9777	protein-coding gene	gene with protein product	"RAS-associated protein RAB3A"	179490				2687157, 7532276	Standard	NM_002866		Approved		uc002nie.2	P20336	OTTHUMG00000137378	ENST00000222256.4:c.268G>A	19.37:g.18311216C>T	ENSP00000222256:p.Ala90Thr					RAB3A_ENST00000464076.2_5'UTR	p.A90T	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN			3	446	-			90					A8K0J4|Q9NYE1	Missense_Mutation	SNP	ENST00000222256.4	37	c.268G>A	CCDS12372.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193455	0.78902	.	.	ENSG00000105649	ENST00000222256	T	0.80123	-1.34	5.0	5.0	0.66597	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	N	0.16656	0.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85609	0.1257	10	0.87932	D	0	-34.8519	15.7492	0.77969	0.0:1.0:0.0:0.0	.	90	P20336	RAB3A_HUMAN	T	90	ENSP00000222256:A90T	ENSP00000222256:A90T	A	-	1	0	RAB3A	18172216	1.000000	0.71417	0.977000	0.42913	0.123000	0.20343	7.679000	0.84048	2.309000	0.77851	0.491000	0.48974	GCA		0.552	RAB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268056.2	NM_002866		70	350	0	0	0	1	0	70	350					T	18311216	C	T	18311216	3	4	79	1	0	0	0	0	1	0	0	0	12981	768	27	1	406	1	RAB3A	19	18311216	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5359	18311216	40817767	18882	29199											
PDE4C	5143	broad.mit.edu	37	chr19	18332977	18332977	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggagttccgagacatggcCttgggcgagagttcatagtc	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18332977C>A	ENST00000355502.3	-	6	1270	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PDE4C_ENST00000447275.3_Missense_Mutation_p.K27N|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000594617.3_Missense_Mutation_p.K133N|PDE4C_ENST00000262805.12_Missense_Mutation_p.K101N|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000594465.3_Missense_Mutation_p.K133N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	133					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)	GAGACATGGCCTTGGGCGAGA	0.617																																						ENST00000355502.3																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(397-399)aaG>aaT		phosphodiesterase 4C, cAMP-specific	Dyphylline(DB00651)						65	57	60					19																	18332977		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18332977C>A		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.399G>T	19.37:g.18332977C>A	ENSP00000347689:p.Lys133Asn					PDE4C_ENST00000262805.11_Missense_Mutation_p.K101N|PDE4C_ENST00000447275.2_Missense_Mutation_p.K27N|PDE4C_ENST00000594465.2_Missense_Mutation_p.K133N|PDE4C_ENST00000594617.2_Missense_Mutation_p.K133N	p.K133N			Q08493	PDE4C_HUMAN			6	1270	-			133					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.399G>T	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326528	0.41197	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.75938	0.92;-0.98;-0.87	4.35	1.02	0.19986	.	3.522130	0.02252	U	0.066744	T	0.78941	0.4363	M	0.68593	2.085	0.80722	D	1	P;P;B	0.49696	0.563;0.927;0.24	B;P;B	0.49999	0.175;0.628;0.192	T	0.66842	-0.5821	10	0.87932	D	0	.	6.1161	0.20127	0.0:0.5024:0.0:0.4976	.	242;133;101	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	N	212;133;121;101;27;242	ENSP00000347689:K133N;ENSP00000262805:K101N;ENSP00000402091:K27N	ENSP00000262805:K101N	K	-	3	2	PDE4C	18193977	0.096000	0.21769	0.926000	0.36857	0.649000	0.38597	0.483000	0.22292	0.314000	0.23086	0.306000	0.20318	AAG		0.617	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			44	182	1	0	3.05275e-18	1	3.38534e-18	44	182					A	18332977	C	A	18332977	3	1	79	1	0	0	0	0	1	0	0	0	11683	680	24	3	1795	3	PDE4C	19	18332977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21761	18332977	40796006	18883	29200											
KIAA1683	80726	broad.mit.edu	37	chr19	18368859	18368859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacgcagcacccctggCtggctcccatgcgcggttcc	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18368859C>A	ENST00000600328.3	-	4	2867	c.2674G>T	c.(2674-2676)Gcc>Tcc	p.A892S	PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1079S|PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A846S			Q9H0B3	K1683_HUMAN	KIAA1683	892						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						GCACCCCTGGCTGGCTCCCAT	0.652																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3235-3237)Gcc>Tcc		KIAA1683							62	62	62					19																	18368859		2202	4294	6496	SO:0001583	missense	80726					mitochondrion		g.chr19:18368859C>A	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.2674G>T	19.37:g.18368859C>A	ENSP00000470780:p.Ala892Ser					KIAA1683_ENST00000600359.2_Missense_Mutation_p.A846S|KIAA1683_ENST00000600328.2_Missense_Mutation_p.A892S	p.A1079S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3450	-			1090					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.3235G>T	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	6.720	0.501628	0.12822	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000411671	T;T;T	0.03330	4.13;4.05;3.97	2.8	-0.878	0.10617	.	0.495017	0.15187	N	0.275781	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B	0.29862	0.021;0.259	B;B	0.22386	0.014;0.039	T	0.48514	-0.9029	10	0.12766	T	0.61	-0.5975	4.5036	0.11876	0.0:0.3912:0.459:0.1498	.	1079;892	E9PDE0;Q9H0B3	.;K1683_HUMAN	S	1079;892;846;156;506	ENSP00000376213:A1079S;ENSP00000352774:A892S;ENSP00000404501:A846S	ENSP00000352774:A892S	A	-	1	0	KIAA1683	18229859	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.039000	0.12124	-0.084000	0.12595	0.462000	0.41574	GCC		0.652	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			30	793	1	0	1.80694e-10	1	1.9163e-10	30	793					A	18368859	C	A	18368859	3	1	79	1	0	0	0	0	1	0	0	0	8281	797	28	3	872	3	KIAA1683	19	18368859	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35882	18368859	40760124	18884	29201											
JUND	3727	broad.mit.edu	37	chr19	18391375	18391375	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggacgccagctccgtgTtctgactcttgagggtcttc	12	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18391375T>C	ENST00000252818.3	-	1	1057	c.920A>G	c.(919-921)aAc>aGc	p.N307S	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	307	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						CAGCTCCGTGTTCTGACTCTT	0.652																																						ENST00000252818.3																			0				lung(2)|prostate(1)	3						c.(919-921)aAc>aGc		jun D proto-oncogene							20	21	21					19																	18391375		2202	4297	6499	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391375T>C		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"basic leucine zipper proteins"	6206	protein-coding gene	gene with protein product	"transcription factor jun-D", "JunD-FL isoform", "activator protein 1"	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.920A>G	19.37:g.18391375T>C	ENSP00000252818:p.Asn307Ser						p.N307S	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	1057	-			307			Leucine-zipper.		Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.920A>G	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	19.21	3.784443	0.70222	.	.	ENSG00000130522	ENST00000252818	T	0.71579	-0.58	3.2	3.2	0.36748	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.81216	0.4776	M	0.76433	2.335	0.54753	D	0.999989	D	0.76494	0.999	D	0.85130	0.997	T	0.82484	-0.0434	10	0.87932	D	0	.	9.7586	0.40519	0.0:0.0:0.0:1.0	.	307	P17535	JUND_HUMAN	S	307	ENSP00000252818:N307S	ENSP00000252818:N307S	N	-	2	0	JUND	18252375	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	7.192000	0.77771	1.465000	0.48006	0.375000	0.23000	AAC		0.652	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		36	124	0	0	0	1	0	36	124					C	18391375	T	C	18391375	3	2	79	1	0	0	0	0	1	0	0	0	8001	1725	60	4	127	4	JUND	19	18391375	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22516	18391375	40737608	18885	29202											
LSM4	25804	broad.mit.edu	37	chr19	18420644	18420644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgccgcggatgtagcactCgggcatccgccagaacttgt	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18420644C>T	ENST00000593829.1	-	4	425	c.172G>A	c.(172-174)Gag>Aag	p.E58K	LSM4_ENST00000252816.6_Missense_Mutation_p.E44K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	58					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)	p.E58K(1)		endometrium(1)|large_intestine(2)|lung(3)	6						ATGTAGCACTCGGGCATCCGC	0.667																																						ENST00000593829.1																			1	Substitution - Missense(1)	p.E58K(1)	large_intestine(1)	endometrium(1)|large_intestine(2)|lung(3)	6						c.(172-174)Gag>Aag		LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)							51	42	45					19																	18420644		2203	4300	6503	SO:0001583	missense	25804				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	g.chr19:18420644C>T	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.172G>A	19.37:g.18420644C>T	ENSP00000469468:p.Glu58Lys					LSM4_ENST00000252816.5_Missense_Mutation_p.E44K	p.E58K	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN			4	425	-			58						Missense_Mutation	SNP	ENST00000593829.1	37	c.172G>A	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	c	32	5.117333	0.94385	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.47	4.47	0.54385	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.82433	2.59	0.80722	D	1	P	0.47302	0.893	P	0.47376	0.545	T	0.79562	-0.1752	9	0.87932	D	0	9.9037	16.5142	0.84295	0.0:1.0:0.0:0.0	.	58	Q9Y4Z0	LSM4_HUMAN	K	58	.	ENSP00000252816:E58K	E	-	1	0	LSM4	18281644	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.353000	0.66034	2.211000	0.71520	0.457000	0.33378	GAG		0.667	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1			32	158	0	0	0	1	0	32	158					T	18420644	C	T	18420644	3	4	79	1	0	0	0	0	1	0	0	0	9096	893	31	1	255	1	LSM4	19	18420644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29269	18420644	40708339	18886	29203											
LRRC25	126364	broad.mit.edu	37	chr19	18507051	18507051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacaaacatgttctcataGtcgggagtggaggggcagga	14	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507051G>A	ENST00000339007.3	-	1	1376	c.723C>T	c.(721-723)gaC>gaT	p.D241D	LRRC25_ENST00000595840.1_Silent_p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	241						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTTCTCATAGTCGGGAGTGG	0.602																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(721-723)gaC>gaT		leucine rich repeat containing 25							59	67	64					19																	18507051		2203	4300	6503	SO:0001819	synonymous_variant	126364					integral to membrane		g.chr19:18507051G>A	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.723C>T	19.37:g.18507051G>A						LRRC25_ENST00000595840.1_Silent_p.D241D	p.D241D	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	1376	-			241					Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	c.723C>T	CCDS12377.1																																																																																				0.602	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		93	409	0	0	0	1	0	93	409					A	18507051	G	A	18507051	2	1	79	1	0	0	0	0	0	0	0	1	9018	1020	36	2		2	LRRC25	19	18507051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86407	18507051	40621932	18887	29204											
LRRC25	126364	broad.mit.edu	37	chr19	18507290	18507290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccccgatagttgcagaggCcaggccaggggcgcagctga	16	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507290C>T	ENST00000339007.3	-	1	1137	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	162						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTGCAGAGGCCAGGCCAGGG	0.637																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(484-486)Gcc>Acc		leucine rich repeat containing 25							28	27	27					19																	18507290		2202	4298	6500	SO:0001583	missense	126364					integral to membrane		g.chr19:18507290C>T	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.484G>A	19.37:g.18507290C>T	ENSP00000340983:p.Ala162Thr					LRRC25_ENST00000595840.1_Missense_Mutation_p.A162T	p.A162T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	1137	-			162					Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.484G>A	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016135	0.19355	.	.	ENSG00000175489	ENST00000339007	T	0.33216	1.42	3.76	-7.52	0.01341	.	2.386640	0.02216	N	0.063617	T	0.20007	0.0481	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.10268	-1.0637	10	0.36615	T	0.2	-0.4435	1.8738	0.03214	0.4333:0.3128:0.0959:0.158	.	162	Q8N386	LRC25_HUMAN	T	162	ENSP00000340983:A162T	ENSP00000340983:A162T	A	-	1	0	LRRC25	18368290	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.526000	0.00441	-3.308000	0.00191	-0.500000	0.04577	GCC		0.637	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		55	195	0	0	0	1	0	55	195					T	18507290	C	T	18507290	3	4	79	1	0	0	0	0	1	0	0	0	9018	739	26	2	441	2	LRRC25	19	18507290	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239	18507290	40621693	18888	29205											
SSBP4	170463	broad.mit.edu	37	chr19	18538218	18538218	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgcccagaagtcagcccaGaccttcctgtctgaggtaag	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	ENST00000270061.7	+	2	411	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_ENST00000348495.6_Silent_p.Q39Q|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	39	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						AGTCAGCCCAGACCTTCCTGT	0.642																																						ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(115-117)caG>caA		single stranded DNA binding protein 4							56	49	52					19																	18538218		2202	4300	6502	SO:0001819	synonymous_variant	170463					nucleus	single-stranded DNA binding	g.chr19:18538218G>A		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.117G>A	19.37:g.18538218G>A						SSBP4_ENST00000348495.5_Silent_p.Q39Q	p.Q39Q	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			2	337	+			39			LisH.		Q9BWW5	Silent	SNP	ENST00000270061.7	37	c.117G>A	CCDS12378.1																																																																																				0.642	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		33	117	0	0	0	1	0	33	117					A	18538218	G	A	18538218	2	1	79	1	0	0	0	0	0	0	0	1	15234	933	33	2		2	SSBP4	19	18538218	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30928	18538218	40590765	18889	29206											
SSBP4	170463	broad.mit.edu	37	chr19	18541673	18541673	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagccgcccccagccCcgttatggggagtatggccc	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	ENST00000270061.7	+	5	596	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_ENST00000348495.6_Missense_Mutation_p.P101H|SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	101						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GCCCCCAGCCCCGTTATGGGG	0.662																																						ENST00000270061.6																			0				endometrium(2)|kidney(1)|skin(1)	4						c.(301-303)cCc>cAc		single stranded DNA binding protein 4							29	30	30					19																	18541673		2203	4300	6503	SO:0001583	missense	170463					nucleus	single-stranded DNA binding	g.chr19:18541673C>A		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.302C>A	19.37:g.18541673C>A	ENSP00000270061:p.Pro101His					SSBP4_ENST00000348495.5_Missense_Mutation_p.P101H	p.P101H	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN			5	522	+			101					Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	c.302C>A	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299588	0.40694	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	2.8	2.8	0.32819	.	0.000000	0.64402	U	0.000002	T	0.74951	0.3784	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.76022	-0.3111	9	0.54805	T	0.06	-2.5338	9.7153	0.40270	0.0:1.0:0.0:0.0	.	101;101	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	H	101	.	ENSP00000270061:P101H	P	+	2	0	SSBP4	18402673	0.998000	0.40836	0.656000	0.29637	0.081000	0.17604	4.604000	0.61112	1.523000	0.49018	0.561000	0.74099	CCC		0.662	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	NM_032627		32	160	1	0	3.03874e-20	1	3.40186e-20	32	160					A	18541673	C	A	18541673	3	1	79	1	0	0	0	0	1	0	0	0	15234	623	22	3	320	3	SSBP4	19	18541673	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3455	18541673	40587310	18890	29207											
ISYNA1	51477	broad.mit.edu	37	chr19	18547207	18547207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctcacagaagcgctccGtgttcgccgtccacagcact	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	ENST00000338128.8	-	6	909	c.692C>T	c.(691-693)aCg>aTg	p.T231M	ISYNA1_ENST00000457269.4_Missense_Mutation_p.T177M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000545187.1_Missense_Mutation_p.T81M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	231					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						GAAGCGCTCCGTGTTCGCCGT	0.627																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(241-243)aCg>aTg		inositol-3-phosphate synthase 1							103	93	96					19																	18547207		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18547207G>A		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"myo-inositol 1-phosphate synthase"	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.692C>T	19.37:g.18547207G>A	ENSP00000337746:p.Thr231Met					ISYNA1_ENST00000317018.6_Missense_Mutation_p.T29M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.T103M|ISYNA1_ENST00000338128.7_Missense_Mutation_p.T231M|ISYNA1_ENST00000457269.3_Missense_Mutation_p.T177M	p.T81M			Q9NPH2	INO1_HUMAN			3	528	-			231					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.242C>T	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980764	0.18812	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	3.88	2.83	0.33086	NAD(P)-binding domain (1);	0.060310	0.64402	N	0.000005	D	0.86826	0.6026	H	0.98388	4.22	0.48975	D	0.999736	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	0.87914	0.2699	9	0.87932	D	0	-22.5749	9.041	0.36319	0.1123:0.0:0.8877:0.0	.	29;177;231;81	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	M	231;177;81;29	.	ENSP00000315147:T29M	T	-	2	0	ISYNA1	18408207	1.000000	0.71417	0.573000	0.28510	0.227000	0.25037	5.807000	0.69157	0.970000	0.38263	0.457000	0.33378	ACG		0.627	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		97	418	0	0	0	1	0	97	418					A	18547207	G	A	18547207	3	1	79	1	0	0	0	0	1	0	0	0	7897	1145	40	1	1008	1	ISYNA1	19	18547207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5534	18547207	40581776	18891	29208											
ELL	8178	broad.mit.edu	37	chr19	18556055	18556055	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttttgatttttcgatattcCtgcaaaatctgccctcgagt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18556055C>A	ENST00000262809.4	-	11	1799	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	CTD-3137H5.1_ENST00000594590.2_RNA|ELL_ENST00000596124.3_Missense_Mutation_p.Q443H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	576					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TTCGATATTCCTGCAAAATCT	0.512			T	MLL	AL																																	ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(1726-1728)caG>caT		elongation factor RNA polymerase II							199	209	206					19																	18556055		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18556055C>A	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1728G>T	19.37:g.18556055C>A	ENSP00000262809:p.Gln576His						p.Q576H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	11	1799	-			576						Missense_Mutation	SNP	ENST00000262809.4	37	c.1728G>T	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709318	0.48517	.	.	ENSG00000105656	ENST00000262809	T	0.22945	1.93	3.79	2.74	0.32292	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.154328	0.44285	U	0.000462	T	0.44244	0.1284	M	0.65498	2.005	0.45946	D	0.998776	D;D	0.76494	0.997;0.999	D;D	0.72982	0.968;0.979	T	0.37572	-0.9700	10	0.72032	D	0.01	-23.2441	9.261	0.37612	0.0:0.8105:0.0:0.1895	.	520;576	Q59HG4;P55199	.;ELL_HUMAN	H	576	ENSP00000262809:Q576H	ENSP00000262809:Q576H	Q	-	3	2	ELL	18417055	1.000000	0.71417	0.983000	0.44433	0.783000	0.44284	0.592000	0.23984	0.952000	0.37798	0.282000	0.19409	CAG		0.512	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		290	1378	1	0	1.25801e-74	1	1.60312e-74	290	1378					A	18556055	C	A	18556055	3	1	79	1	0	0	0	0	1	0	0	0	5080	680	24	3	145	3	ELL	19	18556055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8848	18556055	40572928	18892	29209											
FKBP8	23770	broad.mit.edu	37	chr19	18648447	18648447	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccttgatgttgtctggCtggtgctccagcacaaggct	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	ENST00000596558.2	-	6	1015	c.906G>A	c.(904-906)caG>caA	p.Q302Q	FKBP8_ENST00000222308.4_Silent_p.Q302Q|FKBP8_ENST00000610101.1_Silent_p.Q143Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000597960.3_Silent_p.Q303Q|FKBP8_ENST00000608443.1_Silent_p.Q303Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	302					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGTTGTCTGGCTGGTGCTCCA	0.637																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(907-909)caG>caA		FK506 binding protein 8, 38kDa							62	50	54					19																	18648447		2203	4300	6503	SO:0001819	synonymous_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18648447C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.906G>A	19.37:g.18648447C>T						FKBP8_ENST00000544835.2_Silent_p.Q143Q|FKBP8_ENST00000596558.1_Silent_p.Q302Q|FKBP8_ENST00000222308.3_Silent_p.Q303Q|FKBP8_ENST00000453489.2_Silent_p.Q331Q	p.Q303Q			Q14318	FKBP8_HUMAN			6	1029	-			302					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.909G>A																																																																																					0.637	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		20	227	0	0	0	1	0	20	227					T	18648447	C	T	18648447	2	4	79	1	0	0	0	0	0	0	0	1	5939	796	28	2		2	FKBP8	19	18648447	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92392	18648447	40480536	18893	29210											
C19orf50	79036	broad.mit.edu	37	chr19	18675741	18675741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacctgtccagtgcccGcctgcagcagatgagcgaac	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18675741G>A	ENST00000602094.1	+	3	1624	c.164G>A	c.(163-165)cGc>cAc	p.R55H	KXD1_ENST00000601630.1_Missense_Mutation_p.R55H|KXD1_ENST00000598830.1_Missense_Mutation_p.R55H|KXD1_ENST00000222307.4_Missense_Mutation_p.R55H|KXD1_ENST00000540691.1_Missense_Mutation_p.R55H|KXD1_ENST00000595073.1_Missense_Mutation_p.R55H|KXD1_ENST00000539106.1_Missense_Mutation_p.R55H|KXD1_ENST00000599319.1_Missense_Mutation_p.R55H|KXD1_ENST00000599000.1_Missense_Mutation_p.R55H			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	55					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)		p.R55H(1)									TCCAGTGCCCGCCTGCAGCAG	0.577																																						ENST00000602094.1																			1	Substitution - Missense(1)	p.R55H(1)	autonomic_ganglia(1)								c.(163-165)cGc>cAc		KxDL motif containing 1							182	170	174					19																	18675741		2203	4300	6503	SO:0001583	missense	79036						protein binding	g.chr19:18675741G>A	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"chromosome 19 open reading frame 50"	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.164G>A	19.37:g.18675741G>A	ENSP00000472836:p.Arg55His					KXD1_ENST00000598830.1_Missense_Mutation_p.R55H|KXD1_ENST00000601630.1_Missense_Mutation_p.R55H|KXD1_ENST00000222307.4_Missense_Mutation_p.R55H|KXD1_ENST00000599000.1_Missense_Mutation_p.R55H|KXD1_ENST00000540691.1_Missense_Mutation_p.R55H|KXD1_ENST00000539106.1_Missense_Mutation_p.R55H|KXD1_ENST00000599319.1_Missense_Mutation_p.R55H|KXD1_ENST00000595073.1_Missense_Mutation_p.R55H	p.R55H			Q9BQD3	CS050_HUMAN			3	1624	+			55					O76098	Missense_Mutation	SNP	ENST00000602094.1	37	c.164G>A	CCDS12381.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.460579	0.84317	.	.	ENSG00000105700	ENST00000540691;ENST00000539106;ENST00000222307	T;T;T	0.54675	0.56;0.56;0.56	5.37	4.33	0.51752	Uncharacterised domain KxDL (1);	0.052215	0.85682	N	0.000000	T	0.67970	0.2950	L	0.61036	1.89	0.58432	D	0.999998	D	0.76494	0.999	D	0.72075	0.976	T	0.71090	-0.4693	10	0.72032	D	0.01	-28.9754	13.0235	0.58802	0.0783:0.0:0.9217:0.0	.	55	Q9BQD3	CS050_HUMAN	H	55	ENSP00000443549:R55H;ENSP00000438903:R55H;ENSP00000222307:R55H	ENSP00000222307:R55H	R	+	2	0	C19orf50	18536741	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.513000	0.90542	1.261000	0.44149	0.486000	0.48141	CGC		0.577	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		25	1047	0	0	0	1	0	25	1047					A	18675741	G	A	18675741	3	1	79	1	0	0	0	0	1	0	0	0	1939	1087	38	1	170	1	C19orf50	19	18675741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27294	18675741	40453242	18894	29211											
CRLF1	9244	broad.mit.edu	37	chr19	18710412	18710412	+	Silent	SNP	G	G	A													gagccagccaggatgctgccGtcacgggcgtggcacacgag					rs562764303		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710412G>A	ENST00000392386.3	-	2	553	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	120	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGCTGCCGTCACGGGCGT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16829	0.001		0.0	False		,,,				2504	0.0					ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(358-360)gaC>gaT		cytokine receptor-like factor 1							34	35	34					19																	18710412		2202	4300	6502	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710412G>A	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.360C>T	19.37:g.18710412G>A							p.D120D	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	553	-			120			Ig-like C2-type.		Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.360C>T	CCDS32962.1																																																																																				0.647	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			67	217	0	0	0	1	0	67	217					A	18710412	G	A	18710412	2	1	79	1	0	0	0	0	0	0	0	1	3895	1136	40	1		1	CRLF1	19	18710412	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34671	18710412	40418571	18895	29212	187	2									
CRLF1	9244	broad.mit.edu	37	chr19	18710420	18710420	+	Missense_Mutation	SNP	C	C	T													caggatgctgccgtcacgggCgtggcacacgaggttgtccc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710420C>T	ENST00000392386.3	-	2	545	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	118	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCGTCACGGGCGTGGCACACG	0.657																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(352-354)Gcc>Acc		cytokine receptor-like factor 1							34	34	34					19																	18710420		2202	4300	6502	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710420C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"Fibronectin type III domain containing"	2364	protein-coding gene	gene with protein product	"cold-induced sweating syndrome"	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.352G>A	19.37:g.18710420C>T	ENSP00000376188:p.Ala118Thr						p.A118T	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	545	-			118			Ig-like C2-type.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.352G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459657	0.43736	.	.	ENSG00000006016	ENST00000392386	D	0.85629	-2.01	5.23	4.2	0.49525	Immunoglobulin-like fold (1);	0.227351	0.45126	D	0.000381	T	0.67135	0.2861	N	0.14661	0.345	0.29291	N	0.869344	P	0.35226	0.491	B	0.25405	0.06	T	0.62263	-0.6891	10	0.23302	T	0.38	-32.249	9.2979	0.37827	0.0:0.8439:0.0:0.1561	.	118	O75462	CRLF1_HUMAN	T	118	ENSP00000376188:A118T	ENSP00000376188:A118T	A	-	1	0	CRLF1	18571420	0.865000	0.29922	0.862000	0.33874	0.611000	0.37282	1.167000	0.31847	2.449000	0.82847	0.511000	0.50034	GCC		0.657	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			55	211	0	0	0	1	0	55	211					T	18710420	C	T	18710420	3	4	79	1	0	0	0	0	1	0	0	0	3895	768	27	1	948	1	CRLF1	19	18710420	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8	18710420	40418563	18896	29213	187	2									
TMEM59L	25789	broad.mit.edu	37	chr19	18724703	18724703	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggggctggagggcgcctccGagtctccctatgacagagcc	15	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724703G>A	ENST00000600490.1	+	3	378	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMEM59L_ENST00000262817.3_Missense_Mutation_p.E65K			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	65						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						GGGCGCCTCCGAGTCTCCCTA	0.672																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(193-195)Gag>Aag		transmembrane protein 59-like							36	43	41					19																	18724703		2203	4299	6502	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18724703G>A	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.193G>A	19.37:g.18724703G>A	ENSP00000470879:p.Glu65Lys					TMEM59L_ENST00000262817.3_Missense_Mutation_p.E65K	p.E65K			Q9UK28	TM59L_HUMAN			3	378	+			65						Missense_Mutation	SNP	ENST00000600490.1	37	c.193G>A	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	8.763	0.924166	0.18056	.	.	ENSG00000105696	ENST00000262817	T	0.43688	0.94	4.14	-0.859	0.10685	.	.	.	.	.	T	0.16896	0.0406	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.30387	-0.9980	9	0.08179	T	0.78	-13.9757	5.8679	0.18786	0.1846:0.2965:0.5188:0.0	.	65	Q9UK28	TM59L_HUMAN	K	65	ENSP00000262817:E65K	ENSP00000262817:E65K	E	+	1	0	TMEM59L	18585703	0.034000	0.19679	0.010000	0.14722	0.278000	0.26855	0.175000	0.16762	0.000000	0.14550	-0.305000	0.09177	GAG		0.672	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			99	451	0	0	0	1	0	99	451					A	18724703	G	A	18724703	3	1	79	1	0	0	0	0	1	0	0	0	16238	1059	37	1	199	1	TMEM59L	19	18724703	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14283	18724703	40404280	18897	29214											
TMEM59L	25789	broad.mit.edu	37	chr19	18724721	18724721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagtctccctatgacagaGccgttctgatcagcgcttgc	10	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724721G>A	ENST00000600490.1	+	3	396	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	71						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						CTATGACAGAGCCGTTCTGAT	0.662																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(211-213)Gcc>Acc		transmembrane protein 59-like							43	50	47					19																	18724721		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18724721G>A	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.211G>A	19.37:g.18724721G>A	ENSP00000470879:p.Ala71Thr					TMEM59L_ENST00000262817.3_Missense_Mutation_p.A71T	p.A71T			Q9UK28	TM59L_HUMAN			3	396	+			71						Missense_Mutation	SNP	ENST00000600490.1	37	c.211G>A	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377042	0.61735	.	.	ENSG00000105696	ENST00000262817	T	0.46451	0.87	4.14	4.14	0.48551	.	0.124651	0.56097	D	0.000022	T	0.48095	0.1481	L	0.54323	1.7	0.29756	N	0.835919	D	0.63880	0.993	P	0.55508	0.777	T	0.48387	-0.9040	10	0.48119	T	0.1	-21.1015	8.338	0.32225	0.1127:0.0:0.8873:0.0	.	71	Q9UK28	TM59L_HUMAN	T	71	ENSP00000262817:A71T	ENSP00000262817:A71T	A	+	1	0	TMEM59L	18585721	0.608000	0.26966	0.124000	0.21820	0.030000	0.12068	2.480000	0.45206	1.997000	0.58415	0.561000	0.74099	GCC		0.662	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			93	465	0	0	0	1	0	93	465					A	18724721	G	A	18724721	3	1	79	1	0	0	0	0	1	0	0	0	16238	971	34	2	217	2	TMEM59L	19	18724721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	18724721	40404262	18898	29215											
TMEM59L	25789	broad.mit.edu	37	chr19	18731268	18731268	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatggagcccgattggccCctgtacccgccgccgtccca	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18731268C>A	ENST00000600490.1	+	9	1136	c.951C>A	c.(949-951)ccC>ccA	p.P317P	TMEM59L_ENST00000262817.3_Silent_p.P317P			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	317						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						CCGATTGGCCCCTGTACCCGC	0.647																																						ENST00000600490.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						c.(949-951)ccC>ccA		transmembrane protein 59-like							75	68	71					19																	18731268		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18731268C>A	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.951C>A	19.37:g.18731268C>A						TMEM59L_ENST00000262817.3_Silent_p.P317P	p.P317P			Q9UK28	TM59L_HUMAN			9	1136	+			317						Silent	SNP	ENST00000600490.1	37	c.951C>A	CCDS12383.1																																																																																				0.647	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			12	431	1	0	2.27111e-07	1	2.35674e-07	12	431					A	18731268	C	A	18731268	2	1	79	1	0	0	0	0	0	0	0	1	16238	610	22	3		3	TMEM59L	19	18731268	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6547	18731268	40397715	18899	29216											
KLHL26	55295	broad.mit.edu	37	chr19	18778902	18778902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttccgcgcggccgtccGctggctgcagcatgacccgg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18778902G>A	ENST00000300976.4	+	3	785	c.695G>A	c.(694-696)cGc>cAc	p.R232H	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	232	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGTCCGCTGGCTGCAG	0.687																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(694-696)cGc>cAc		kelch-like family member 26							23	24	24					19																	18778902		2199	4296	6495	SO:0001583	missense	55295							g.chr19:18778902G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.695G>A	19.37:g.18778902G>A	ENSP00000300976:p.Arg232His					KLHL26_ENST00000599006.1_Intron	p.R232H	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	785	+			232			BACK.		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.695G>A	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712884	0.89112	.	.	ENSG00000167487	ENST00000300976	T	0.69926	-0.44	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.86740	2.835	0.80722	D	1	P	0.52170	0.951	P	0.48552	0.581	T	0.81972	-0.0688	9	.	.	.	.	17.3648	0.87360	0.0:0.0:1.0:0.0	.	232	Q53HC5	KLH26_HUMAN	H	232	ENSP00000300976:R232H	.	R	+	2	0	KLHL26	18639902	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	7.734000	0.84928	2.341000	0.79615	0.591000	0.81541	CGC		0.687	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		16	340	0	0	0	1	0	16	340					A	18778902	G	A	18778902	3	1	79	1	0	0	0	0	1	0	0	0	8411	1087	38	1	705	1	KLHL26	19	18778902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47634	18778902	40350081	18900	29217											
KLHL26	55295	broad.mit.edu	37	chr19	18779809	18779809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggagtactatgtgccGgagacggaccagtggaccag	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18779809G>A	ENST00000300976.4	+	3	1692	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	534										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTATGTGCCGGAGACGGACC	0.677																																						ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1600-1602)ccG>ccA		kelch-like family member 26							48	47	47					19																	18779809		2203	4298	6501	SO:0001819	synonymous_variant	55295							g.chr19:18779809G>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1602G>A	19.37:g.18779809G>A						KLHL26_ENST00000599006.1_Intron	p.P534P	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			3	1692	+			534					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.1602G>A	CCDS12384.1																																																																																				0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		64	363	0	0	0	1	0	64	363					A	18779809	G	A	18779809	2	1	79	1	0	0	0	0	0	0	0	1	8411	1103	39	1		1	KLHL26	19	18779809	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	907	18779809	40349174	18901	29218											
CRTC1	23373	broad.mit.edu	37	chr19	18885767	18885767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgagcagcagatggcgGccaggcaggccaatgctctg	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18885767G>A	ENST00000321949.8	+	12	1509	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T|CRTC1_ENST00000338797.6_Missense_Mutation_p.A511T|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						GCAGATGGCGGCCAGGCAGGC	0.677																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1531-1533)Gcc>Acc		CREB regulated transcription coactivator 1							89	74	79					19																	18885767		2203	4300	6503	SO:0001583	missense	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18885767G>A	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1483G>A	19.37:g.18885767G>A	ENSP00000323332:p.Ala495Thr					CRTC1_ENST00000594658.1_Missense_Mutation_p.A454T|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Missense_Mutation_p.A495T	p.A511T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			13	1556	+			495						Missense_Mutation	SNP	ENST00000321949.8	37	c.1531G>A	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162800	0.38217	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.18016	2.24;2.24	3.28	3.28	0.37604	.	0.523530	0.18511	N	0.139060	T	0.13841	0.0335	L	0.36672	1.1	0.41486	D	0.988191	P;B	0.49090	0.919;0.434	B;B	0.40825	0.341;0.085	T	0.13495	-1.0507	10	0.22109	T	0.4	-19.0374	13.6832	0.62499	0.0:0.0:1.0:0.0	.	511;495	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	T	511;495	ENSP00000345001:A511T;ENSP00000323332:A495T	ENSP00000323332:A495T	A	+	1	0	CRTC1	18746767	1.000000	0.71417	0.989000	0.46669	0.965000	0.64279	5.232000	0.65332	1.679000	0.50963	0.313000	0.20887	GCC		0.677	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		76	285	0	0	0	1	0	76	285					A	18885767	G	A	18885767	3	1	79	1	0	0	0	0	1	0	0	0	3908	1203	42	2	1581	2	CRTC1	19	18885767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105958	18885767	40243216	18902	29219											
CRTC1	23373	broad.mit.edu	37	chr19	18888081	18888081	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacagccagtttcccctggaCgaactcaagatcgaccccct	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18888081C>T	ENST00000321949.8	+	14	1820	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	CRTC1_ENST00000594658.1_Silent_p.D557D|CRTC1_ENST00000338797.6_Silent_p.D614D|CRTC1_ENST00000601916.1_Silent_p.D356D	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						TTCCCCTGGACGAACTCAAGA	0.632																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1840-1842)gaC>gaT		CREB regulated transcription coactivator 1							178	189	185					19																	18888081		2203	4300	6503	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18888081C>T	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1794C>T	19.37:g.18888081C>T						CRTC1_ENST00000594658.1_Silent_p.D557D|CRTC1_ENST00000601916.1_Silent_p.D356D|CRTC1_ENST00000321949.8_Silent_p.D598D	p.D614D	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1867	+			598						Silent	SNP	ENST00000321949.8	37	c.1842C>T	CCDS32963.1																																																																																				0.632	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		348	1541	0	0	0	1	0	348	1541					T	18888081	C	T	18888081	2	4	79	1	0	0	0	0	0	0	0	1	3908	535	19	1		1	CRTC1	19	18888081	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2314	18888081	40240902	18903	29220											
COMP	1311	broad.mit.edu	37	chr19	18893930	18893930	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagaagacccccaggcGgccaccccgcatggttgtgt	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18893930G>A	ENST00000222271.2	-	18	2205	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	COMP_ENST00000542601.2_Missense_Mutation_p.R688C|COMP_ENST00000425807.1_Missense_Mutation_p.R668C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	721	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				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						ACCCCCAGGCGGCCACCCCGC	0.652																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2062-2064)Cgc>Tgc		cartilage oligomeric matrix protein							47	48	47					19																	18893930		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18893930G>A	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.2161C>T	19.37:g.18893930G>A	ENSP00000222271:p.Arg721Cys					COMP_ENST00000425807.1_Missense_Mutation_p.R668C|COMP_ENST00000222271.2_Missense_Mutation_p.R721C	p.R688C			P49747	COMP_HUMAN			17	2451	-			721			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.2062C>T	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102624	0.76983	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.97378	-4.36;-4.36;-4.36	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.64402	U	0.000003	D	0.98692	0.9561	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99813	1.1042	10	0.87932	D	0	-32.7372	15.9884	0.80179	0.0:0.0:1.0:0.0	.	668;721	B4DKJ3;P49747	.;COMP_HUMAN	C	688;721;668;708	ENSP00000439156:R688C;ENSP00000222271:R721C;ENSP00000403792:R668C	ENSP00000222271:R721C	R	-	1	0	COMP	18754930	1.000000	0.71417	0.855000	0.33649	0.811000	0.45836	5.325000	0.65869	2.120000	0.65058	0.313000	0.20887	CGC		0.652	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		47	227	0	0	0	1	0	47	227					A	18893930	G	A	18893930	3	1	79	1	0	0	0	0	1	0	0	0	3733	1116	39	1	120	1	COMP	19	18893930	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5849	18893930	40235053	18904	29221											
COMP	1311	broad.mit.edu	37	chr19	18901372	18901372	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgccccgccgcgctcaccGcacgcgtcacactccatcac	7	23	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	ENST00000222271.2	-	3	260	c.216C>T	c.(214-216)tgC>tgT	p.C72C	COMP_ENST00000542601.2_Splice_Site_p.C39C|COMP_ENST00000425807.1_Splice_Site_p.C72C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	72	COMP N-terminal.				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						CGCGCTCACCGCACGCGTCAC	0.612																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.e2+1		cartilage oligomeric matrix protein							196	209	204					19																	18901372		2203	4300	6503	SO:0001630	splice_region_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18901372G>A	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.217+1C>T	19.37:g.18901372G>A						COMP_ENST00000425807.1_Splice_Site_p.C72_splice|COMP_ENST00000222271.2_Splice_Site_p.C72_splice	p.C39_splice			P49747	COMP_HUMAN			2	506	-			72			COMP N-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Splice_Site	SNP	ENST00000222271.2	37	c.118_splice	CCDS12385.1																																																																																				0.612	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095	Silent	305	1605	0	0	0	1	0	305	1605					A	18901372	G	A	18901372	5	1	79	1	0	0	0	0	0	0	1	0	3733	1101	38	1	2125	1	COMP	19	18901372	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7442	18901372	40227611	18905	29222											
COMP	1311	broad.mit.edu	37	chr19	18901411	18901411	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgtgtttttcaggaacgtGatctccctgacctgcagggg	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901411G>A	ENST00000222271.2	-	3	221	c.177C>T	c.(175-177)atC>atT	p.I59I	COMP_ENST00000542601.2_Silent_p.I26I|COMP_ENST00000425807.1_Silent_p.I59I	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	59	COMP N-terminal.				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)	p.I59I(1)		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						TCAGGAACGTGATCTCCCTGA	0.622																																						ENST00000542601.2																			1	Substitution - coding silent(1)	p.I59I(1)	kidney(1)	breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(76-78)atC>atT		cartilage oligomeric matrix protein							181	189	186					19																	18901411		2203	4300	6503	SO:0001819	synonymous_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18901411G>A	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.177C>T	19.37:g.18901411G>A						COMP_ENST00000425807.1_Silent_p.I59I|COMP_ENST00000222271.2_Silent_p.I59I	p.I26I			P49747	COMP_HUMAN			2	467	-			59			COMP N-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	c.78C>T	CCDS12385.1																																																																																				0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		258	1339	0	0	0	1	0	258	1339					A	18901411	G	A	18901411	2	1	79	1	0	0	0	0	0	0	0	1	3733	1280	45	2		2	COMP	19	18901411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	18901411	40227572	18906	29223											
LASS1	10715	broad.mit.edu	37	chr19	18990128	18990128	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagaaggggatgtcaggcacCgtgcgcagactgcagtgact	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18990128C>A	ENST00000427170.2	-	5	893	c.822G>T	c.(820-822)acG>acT	p.T274T	CERS1_ENST00000542296.2_Silent_p.T176T|CERS1_ENST00000429504.2_Silent_p.T274T|GDF1_ENST00000247005.6_5'UTR|AC005197.2_ENST00000597769.1_RNA	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	274	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)			endometrium(3)|lung(2)	5						TGTCAGGCACCGTGCGCAGAC	0.602																																						ENST00000427170.2																			0				endometrium(3)|lung(2)	5						c.(820-822)acG>acT		ceramide synthase 1							83	104	97					19																	18990128		2169	4272	6441	SO:0001819	synonymous_variant	0				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity	g.chr19:18990128C>A	AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"longevity assurance (LAG1, S. cerevisiae) homolog 1", "LAG1 longevity assurance homolog 1 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 1"	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.822G>T	19.37:g.18990128C>A						CERS1_ENST00000542296.2_Silent_p.T176T|CERS1_ENST00000429504.2_Silent_p.T274T|GDF1_ENST00000247005.6_5'UTR	p.T274T	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN			5	893	-			274			TLC.			Silent	SNP	ENST00000427170.2	37	c.822G>T	CCDS46020.1																																																																																				0.602	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	74	1	0	2.0095e-06	1	2.07161e-06	7	74					A	18990128	C	A	18990128	2	1	79	1	0	0	0	0	0	0	0	1	8669	639	23	3		3	LASS1	19	18990128	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88717	18990128	40138855	18907	29224											
SFRS14	10147	broad.mit.edu	37	chr19	19129997	19129997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacacgtttcacaagctggtCgatggtgcccactaccctgt	10	13	1	0	rs368135990		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19129997C>T	ENST00000601879.1	-	4	2068	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	SUGP2_ENST00000456085.2_Missense_Mutation_p.D360N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D591N|SUGP2_ENST00000337018.6_Missense_Mutation_p.D591N|SUGP2_ENST00000600377.1_Missense_Mutation_p.D605N			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	591					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						ACAAGCTGGTCGATGGTGCCC	0.517																																						ENST00000601879.1																			0				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						c.(1771-1773)Gac>Aac		SURP and G patch domain containing 2							99	83	88					19																	19129997		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19129997C>T	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.1771G>A	19.37:g.19129997C>T	ENSP00000472286:p.Asp591Asn					SUGP2_ENST00000337018.6_Missense_Mutation_p.D591N|SUGP2_ENST00000456085.2_Missense_Mutation_p.D360N|SUGP2_ENST00000600377.1_Missense_Mutation_p.D605N|SUGP2_ENST00000452918.2_Missense_Mutation_p.D591N	p.D591N			Q8IX01	SUGP2_HUMAN			4	2068	-			591					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.1771G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712747	0.30413	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.59	4.56	0.56223	SWAP/Surp (1);	0.357866	0.26959	N	0.021622	T	0.35068	0.0919	L	0.27053	0.805	0.30034	N	0.813201	B;B;B	0.25719	0.132;0.044;0.018	B;B;B	0.22386	0.039;0.027;0.018	T	0.40572	-0.9556	10	0.87932	D	0	-11.2567	11.5267	0.50584	0.0:0.9163:0.0:0.0837	.	360;591;591	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	N	591;591;591;360	ENSP00000337926:D591N;ENSP00000332373:D591N;ENSP00000389380:D591N;ENSP00000409603:D360N	ENSP00000332373:D591N	D	-	1	0	SUGP2	18990997	0.987000	0.35691	0.869000	0.34112	0.027000	0.11550	2.858000	0.48356	1.368000	0.46115	0.655000	0.94253	GAC		0.517	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		32	197	0	0	0	1	0	32	197					T	19129997	C	T	19129997	3	4	79	1	0	0	0	0	1	0	0	0	14220	884	31	1	1505	1	SFRS14	19	19129997	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139869	19129997	39998986	18908	29225											
SFRS14	10147	broad.mit.edu	37	chr19	19136015	19136016	+	Frame_Shift_Ins	INS	-	-	A													aaatttgatagtaaaaaagcINSaaaaatctctgtgctctggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136015_19136016insA	ENST00000601879.1	-	3	1438_1439	c.1141_1142insT	c.(1141-1143)tgcfs	p.C381fs	SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000456085.2_Frame_Shift_Ins_p.C150fs|SUGP2_ENST00000452918.2_Frame_Shift_Ins_p.C381fs|SUGP2_ENST00000337018.6_Frame_Shift_Ins_p.C381fs|SUGP2_ENST00000600377.1_Frame_Shift_Ins_p.C395fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	381					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						AGTAAAAAAGCAAAAATCTCTG	0.356																																						ENST00000601879.1																			0				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						c.(1141-1143)cttfs		SURP and G patch domain containing 2																																				SO:0001589	frameshift_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136015_19136016insA	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.1142dupT	19.37:g.19136020_19136020dupA	ENSP00000472286:p.Cys381fs					SUGP2_ENST00000600377.1_Frame_Shift_Ins_p.L395fs|SUGP2_ENST00000456085.2_Frame_Shift_Ins_p.L150fs|SUGP2_ENST00000452918.2_Frame_Shift_Ins_p.L381fs|SUGP2_ENST00000337018.6_Frame_Shift_Ins_p.L381fs	p.L381fs			Q8IX01	SUGP2_HUMAN			3	1438_1439	-			381					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Frame_Shift_Ins	INS	ENST00000601879.1	37	c.1141_1142insT	CCDS12392.1																																																																																				0.356	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		70	295						70	295	---	---	---	---	A	19136016	-	A	19136015	7	5	79	1	0	1	1	0	0	0	0	0	14220	710	25	0	2138	0	SFRS14	19	19136015	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	6018	19136015	39992968	18909	29226											
SFRS14	10147	broad.mit.edu	37	chr19	19136619	19136619	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttctccaaacactctttctCaatcagcctggaagatccaa	4	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136619C>T	ENST00000601879.1	-	3	835	c.538G>A	c.(538-540)Gag>Aag	p.E180K	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Missense_Mutation_p.E180K|SUGP2_ENST00000337018.6_Missense_Mutation_p.E180K|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.E194K			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	180					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						CACTCTTTCTCAATCAGCCTG	0.527																																						ENST00000601879.1																			0				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						c.(538-540)Gag>Aag		SURP and G patch domain containing 2							103	92	96					19																	19136619		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136619C>T	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.538G>A	19.37:g.19136619C>T	ENSP00000472286:p.Glu180Lys					SUGP2_ENST00000337018.6_Missense_Mutation_p.E180K|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000600377.1_Missense_Mutation_p.E194K|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Missense_Mutation_p.E180K	p.E180K			Q8IX01	SUGP2_HUMAN			3	835	-			180					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.538G>A	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963237	0.53507	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.14391	2.52;2.51;2.52	4.93	4.93	0.64822	.	0.578205	0.16159	N	0.226887	T	0.10252	0.0251	N	0.19112	0.55	0.80722	D	1	P;P	0.40970	0.734;0.734	B;B	0.34824	0.19;0.19	T	0.15578	-1.0432	10	0.87932	D	0	-19.4332	15.2858	0.73828	0.0:1.0:0.0:0.0	.	180;180	A8K5G0;Q8IX01	.;SUGP2_HUMAN	K	180	ENSP00000337926:E180K;ENSP00000332373:E180K;ENSP00000389380:E180K	ENSP00000332373:E180K	E	-	1	0	SUGP2	18997619	0.989000	0.36119	0.986000	0.45419	0.890000	0.51754	2.927000	0.48900	2.295000	0.77249	0.313000	0.20887	GAG		0.527	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		64	269	0	0	0	1	0	64	269					T	19136619	C	T	19136619	3	4	79	1	0	0	0	0	1	0	0	0	14220	835	29	2	2742	2	SFRS14	19	19136619	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604	19136619	39992364	18910	29227											
SFRS14	10147	broad.mit.edu	37	chr19	19136736	19136736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgttcccaagaaccacGgagcgcaaatttccagtcct	8	13	1	1	rs372694244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136736G>A	ENST00000601879.1	-	3	718	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	SUGP2_ENST00000456085.2_Silent_p.S42S|SUGP2_ENST00000452918.2_Missense_Mutation_p.R141C|SUGP2_ENST00000337018.6_Missense_Mutation_p.R141C|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000600377.1_Missense_Mutation_p.R155C			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	141					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						CAAGAACCACGGAGCGCAAAT	0.512																																						ENST00000601879.1																			0				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						c.(421-423)Cgt>Tgt		SURP and G patch domain containing 2		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	100	99	99		421,421	3	1	19		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	141/1083,141/1083	19136736	1,13005	2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136736G>A	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.421C>T	19.37:g.19136736G>A	ENSP00000472286:p.Arg141Cys					SUGP2_ENST00000337018.6_Missense_Mutation_p.R141C|SUGP2_ENST00000456085.2_Silent_p.S42S|SUGP2_ENST00000600377.1_Missense_Mutation_p.R155C|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Missense_Mutation_p.R141C	p.R141C			Q8IX01	SUGP2_HUMAN			3	718	-			141					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.421C>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510062	0.44660	0.0	1.16E-4	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	T;T;T	0.10860	2.83;2.84;2.83	5.29	3.03	0.35002	.	0.564561	0.17120	N	0.186255	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	0.999992	D;D	0.62365	0.991;0.978	B;P	0.44477	0.446;0.451	T	0.24728	-1.0152	10	0.49607	T	0.09	-2.171	8.6193	0.33851	0.0828:0.0:0.7646:0.1527	.	141;141	A8K5G0;Q8IX01	.;SUGP2_HUMAN	C	141	ENSP00000337926:R141C;ENSP00000332373:R141C;ENSP00000389380:R141C	ENSP00000332373:R141C	R	-	1	0	SUGP2	18997736	0.035000	0.19736	0.978000	0.43139	0.837000	0.47467	2.153000	0.42282	2.489000	0.83994	0.305000	0.20034	CGT		0.512	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		87	501	0	0	0	1	0	87	501					A	19136736	G	A	19136736	3	1	79	1	0	0	0	0	1	0	0	0	14220	1116	39	1	2859	1	SFRS14	19	19136736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	117	19136736	39992247	18911	29228											
ARMC6	93436	broad.mit.edu	37	chr19	19162840	19162840	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctgactggtgccatcaCccatcatggccaccacactg	8	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19162840C>T	ENST00000535612.1	+	5	1121	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I|ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	230					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGTGCCATCACCCATCATGGC	0.597																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(688-690)aCc>aTc		armadillo repeat containing 6							91	55	67					19																	19162840		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19162840C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.689C>T	19.37:g.19162840C>T	ENSP00000444156:p.Thr230Ile					ARMC6_ENST00000392336.3_Missense_Mutation_p.T230I|ARMC6_ENST00000392335.2_Missense_Mutation_p.T205I|ARMC6_ENST00000546344.1_Missense_Mutation_p.T137I|ARMC6_ENST00000269932.6_Missense_Mutation_p.T205I	p.T230I	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		5	1121	+			230					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.689C>T	CCDS56089.1	.	.	.	.	.	.	.	.	.	.	C	3.571	-0.087560	0.07097	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.32	-1.02	0.10135	Armadillo-like helical (1);Armadillo-type fold (1);	0.818936	0.11528	N	0.554983	T	0.51669	0.1688	L	0.36672	1.1	0.09310	N	1	B	0.34181	0.44	B	0.27170	0.077	T	0.35126	-0.9801	10	0.38643	T	0.18	-2.7493	5.6963	0.17857	0.1775:0.4361:0.0:0.3864	.	230	Q6NXE6	ARMC6_HUMAN	I	205;230;205;205;137;205;137;141;141;230	ENSP00000376147:T205I;ENSP00000444156:T230I;ENSP00000441948:T205I;ENSP00000269932:T205I;ENSP00000444341:T137I;ENSP00000446037:T205I;ENSP00000437580:T137I;ENSP00000376148:T230I	ENSP00000269932:T205I	T	+	2	0	ARMC6	19023840	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.010000	0.14839	-0.254000	0.11334	ACC		0.597	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		36	199	0	0	0	1	0	36	199					T	19162840	C	T	19162840	3	4	79	1	0	0	0	0	1	0	0	0	956	507	18	2	624	2	ARMC6	19	19162840	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26104	19162840	39966143	18912	29229											
ARMC6	93436	broad.mit.edu	37	chr19	19166187	19166187	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcgtggctgctatgacccaGcatctgaccagcccccaggt	10	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166187G>T	ENST00000535612.1	+	7	1569	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	379					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTATGACCCAGCATCTGACCA	0.587																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1135-1137)caG>caT		armadillo repeat containing 6							90	71	77					19																	19166187		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19166187G>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1137G>T	19.37:g.19166187G>T	ENSP00000444156:p.Gln379His					ARMC6_ENST00000392336.3_Missense_Mutation_p.Q379H|ARMC6_ENST00000392335.2_Missense_Mutation_p.Q354H|ARMC6_ENST00000546344.1_Missense_Mutation_p.Q286H|ARMC6_ENST00000269932.6_Missense_Mutation_p.Q354H	p.Q379H	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		7	1569	+			379					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1137G>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.215|9.215	1.031972|1.031972	0.19590|0.19590	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535478;ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.30714	.|1.53;1.52;1.53;1.53;1.52	4.88|4.88	1.1|1.1	0.20463|0.20463	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.458981	.|0.21457	.|N	.|0.074236	T|T	0.12902|0.12902	0.0313|0.0313	N|N	0.12182|0.12182	0.205|0.205	0.31551|0.31551	N|N	0.658778|0.658778	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.05869|0.05869	-1.0859|-1.0859	5|10	.|0.37606	.|T	.|0.19	-12.8714|-12.8714	2.6774|2.6774	0.05084|0.05084	0.1647:0.3823:0.3175:0.1356|0.1647:0.3823:0.3175:0.1356	.|.	.|379	.|Q6NXE6	.|ARMC6_HUMAN	S|H	69;43|354;379;354;286;290;379	.|ENSP00000376147:Q354H;ENSP00000444156:Q379H;ENSP00000269932:Q354H;ENSP00000444341:Q286H;ENSP00000376148:Q379H	.|ENSP00000269932:Q354H	A|Q	+|+	1|3	0|2	ARMC6|ARMC6	19027187|19027187	0.028000|0.028000	0.19301|0.19301	0.991000|0.991000	0.47740|0.47740	0.340000|0.340000	0.28889|0.28889	-0.470000|-0.470000	0.06639|0.06639	0.994000|0.994000	0.38892|0.38892	0.563000|0.563000	0.77884|0.77884	GCA|CAG		0.587	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		64	251	1	0	1.02487e-32	1	1.21166e-32	64	251					T	19166187	G	T	19166187	3	4	79	1	0	0	0	0	1	0	0	0	956	962	34	3	1080	3	ARMC6	19	19166187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3347	19166187	39962796	18913	29230											
ARMC6	93436	broad.mit.edu	37	chr19	19166660	19166660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtaagcccgacaacagcCgcatcatcgtggagggtggc	14	12	1	0	rs200832309	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166660C>T	ENST00000535612.1	+	8	1648	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C|ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	406					hematopoietic progenitor cell differentiation (GO:0002244)			p.R381S(1)|p.R406S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGACAACAGCCGCATCATCGT	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		16291	0.002		0.0	False		,,,				2504	0.0					ENST00000535612.1																			2	Substitution - Missense(2)	p.R381S(1)|p.R406S(1)	lung(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1216-1218)Cgc>Tgc		armadillo repeat containing 6							56	61	60					19																	19166660		2202	4297	6499	SO:0001583	missense	93436						protein binding	g.chr19:19166660C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1216C>T	19.37:g.19166660C>T	ENSP00000444156:p.Arg406Cys					ARMC6_ENST00000392336.3_Missense_Mutation_p.R406C|ARMC6_ENST00000392335.2_Missense_Mutation_p.R381C|ARMC6_ENST00000546344.1_Missense_Mutation_p.R313C|ARMC6_ENST00000269932.6_Missense_Mutation_p.R381C	p.R406C	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		8	1648	+			406					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1216C>T	CCDS56089.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	16.00|16.00	2.998589|2.998589	0.54147|0.54147	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000535795|ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	.|T;T;T;T;T	.|0.51071	.|0.72;0.72;0.72;0.72;0.72	5.24|5.24	4.14|4.14	0.48551|0.48551	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.320112	.|0.32218	.|N	.|0.006406	T|T	0.57403|0.57403	0.2051|0.2051	M|M	0.61703|0.61703	1.905|1.905	0.47621|0.47621	D|D	0.999478|0.999478	.|D	.|0.89917	.|1.0	.|P	.|0.57324	.|0.818	T|T	0.59721|0.59721	-0.7401|-0.7401	5|10	.|0.56958	.|D	.|0.05	-30.9653|-30.9653	10.9243|10.9243	0.47182|0.47182	0.3419:0.6581:0.0:0.0|0.3419:0.6581:0.0:0.0	.|.	.|406	.|Q6NXE6	.|ARMC6_HUMAN	L|C	69|381;406;381;313;317;406	.|ENSP00000376147:R381C;ENSP00000444156:R406C;ENSP00000269932:R381C;ENSP00000444341:R313C;ENSP00000376148:R406C	.|ENSP00000269932:R381C	P|R	+|+	2|1	0|0	ARMC6|ARMC6	19027660|19027660	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.071000|0.071000	0.16799|0.16799	3.241000|3.241000	0.51376|0.51376	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.672	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		144	589	0	0	0	1	0	144	589					T	19166660	C	T	19166660	3	4	79	1	0	0	0	0	1	0	0	0	956	652	23	1	1163	1	ARMC6	19	19166660	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473	19166660	39962323	18914	29231											
ARMC6	93436	broad.mit.edu	37	chr19	19168365	19168365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgtggccaaggccgcCctgcgggacctgggttgtca	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19168365C>T	ENST00000535612.1	+	9	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_ENST00000269932.6_Silent_p.A453A|ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000392336.3_Silent_p.A478A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	478					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1432-1434)gcC>gcT		armadillo repeat containing 6							58	57	57					19																	19168365		2203	4299	6502	SO:0001819	synonymous_variant	93436						protein binding	g.chr19:19168365C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1434C>T	19.37:g.19168365C>T						ARMC6_ENST00000392336.3_Silent_p.A478A|ARMC6_ENST00000392335.2_Silent_p.A453A|ARMC6_ENST00000546344.1_Silent_p.A385A|ARMC6_ENST00000269932.6_Silent_p.A453A	p.A478A	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		9	1866	+			478					B4DI98|O94999|Q9BTH5	Silent	SNP	ENST00000535612.1	37	c.1434C>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.354|3.354	-0.131862|-0.131862	0.06753|0.06753	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000379532|ENST00000535478;ENST00000540634	.|.	.|.	.|.	4.09|4.09	1.73|1.73	0.24493|0.24493	.|.	.|.	.|.	.|.	.|.	T|T	0.53690|0.53690	0.1812|0.1812	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42732|0.42732	-0.9434|-0.9434	5|4	0.46703|.	T|.	0.11|.	-19.4935|-19.4935	6.1867|6.1867	0.20502|0.20502	0.4011:0.5041:0.0:0.0947|0.4011:0.5041:0.0:0.0947	.|.	.|.	.|.	.|.	L|S	388|122;58	.|.	ENSP00000368847:P388L|.	P|P	+|+	2|1	0|0	ARMC6|ARMC6	19029365|19029365	0.080000|0.080000	0.21391|0.21391	0.981000|0.981000	0.43875|0.43875	0.223000|0.223000	0.24884|0.24884	-0.182000|-0.182000	0.09726|0.09726	0.337000|0.337000	0.23665|0.23665	0.555000|0.555000	0.69702|0.69702	CCC|CCT		0.672	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		77	315	0	0	0	1	0	77	315					T	19168365	C	T	19168365	2	4	79	1	0	0	0	0	0	0	0	1	956	610	22	2		2	ARMC6	19	19168365	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1705	19168365	39960618	18915	29232											
SLC25A42	284439	broad.mit.edu	37	chr19	19221530	19221530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctacccgcgcgcctccatcGcccgcacgctgcgcaccatc	9	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19221530G>A	ENST00000318596.7	+	8	953	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	268					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CGCCTCCATCGCCCGCACGCT	0.711																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(802-804)Gcc>Acc		solute carrier family 25, member 42							14	13	13					19																	19221530		2181	4260	6441	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19221530G>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.802G>A	19.37:g.19221530G>A	ENSP00000326693:p.Ala268Thr						p.A268T	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		8	953	+			268					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.802G>A	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.101014	0.20552	.	.	ENSG00000181035	ENST00000318596	T	0.79352	-1.26	4.92	-5.18	0.02840	Mitochondrial carrier domain (2);	1.297250	0.05156	N	0.496932	T	0.49626	0.1568	N	0.05230	-0.09	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.33979	-0.9847	10	0.16896	T	0.51	-10.0741	3.8853	0.09096	0.3208:0.4395:0.1469:0.0928	.	268	Q86VD7	S2542_HUMAN	T	268	ENSP00000326693:A268T	ENSP00000326693:A268T	A	+	1	0	SLC25A42	19082530	0.002000	0.14202	0.087000	0.20705	0.032000	0.12392	-0.126000	0.10563	-0.099000	0.12263	0.555000	0.69702	GCC		0.711	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		25	79	0	0	0	1	0	25	79					A	19221530	G	A	19221530	3	1	79	1	0	0	0	0	1	0	0	0	14557	1087	38	1	828	1	SLC25A42	19	19221530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53165	19221530	39907453	18916	29233											
RFXANK	8625	broad.mit.edu	37	chr19	19308954	19308954	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaaaagagcgagagagCgccctgtcgctggccagcac	14	13	0	2	rs368281475		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19308954C>T	ENST00000303088.4	+	7	951	c.477C>T	c.(475-477)agC>agT	p.S159S	RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000407360.3_Silent_p.S159S|RFXANK_ENST00000353145.1_Silent_p.S136S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	159					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGCGAGAGAGCGCCCTGTCGC	0.597																																						ENST00000303088.4																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14						c.(475-477)agC>agT		regulatory factor X-associated ankyrin-containing protein		C	,	2,4404	4.2+/-10.8	0,2,2201	81	87	85		477,408	-6.2	0.9	19		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RFXANK	NM_003721.2,NM_134440.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	159/261,136/238	19308954	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19308954C>T	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"Ankyrin repeat domain containing"	9987	protein-coding gene	gene with protein product	"ankyrin repeat-containing regulatory factor X-associated protein", "regulatory factor X subunit B", "RFX-Bdelta4", "DNA-binding protein RFXANK"	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.477C>T	19.37:g.19308954C>T						RFXANK_ENST00000353145.1_Silent_p.S136S|RFXANK_ENST00000456252.3_Silent_p.S137S|RFXANK_ENST00000392324.4_Silent_p.S136S|RFXANK_ENST00000407360.3_Silent_p.S159S	p.S159S	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		7	951	+			159					O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	37	c.477C>T	CCDS12395.1																																																																																				0.597	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		145	623	0	0	0	1	0	145	623					T	19308954	C	T	19308954	2	4	79	1	0	0	0	0	0	0	0	1	13319	767	27	1		1	RFXANK	19	19308954	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87424	19308954	39820029	18917	29234											
NCAN	1463	broad.mit.edu	37	chr19	19339148	19339148	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccagaggatcaggtggagAcccagggaacatcaggagct	15	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19339148A>G	ENST00000252575.6	+	8	2818	c.2719A>G	c.(2719-2721)Acc>Gcc	p.T907A	NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	907					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)	TCAGGTGGAGACCCAGGGAAC	0.622																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2719-2721)Acc>Gcc		neurocan							86	88	87					19																	19339148		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339148A>G	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.2719A>G	19.37:g.19339148A>G	ENSP00000252575:p.Thr907Ala					NCAN_ENST00000538881.1_Missense_Mutation_p.T358A	p.T907A	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2762	+			907					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2719A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	A	7.693	0.691540	0.15039	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.84516	-1.71;-1.86	3.49	-0.261	0.12963	.	0.996046	0.08127	N	0.993839	T	0.66366	0.2782	N	0.12746	0.255	0.09310	N	1	B;B	0.17852	0.024;0.0	B;B	0.08055	0.003;0.001	T	0.51252	-0.8729	10	0.07175	T	0.84	.	5.8932	0.18925	0.5843:0.0:0.4157:0.0	.	921;907	Q4LE67;O14594	.;NCAN_HUMAN	A	921;907;358	ENSP00000252575:T907A;ENSP00000442202:T358A	ENSP00000252575:T907A	T	+	1	0	NCAN	19200148	0.003000	0.15002	0.335000	0.25508	0.385000	0.30292	0.082000	0.14847	-0.038000	0.13624	-0.415000	0.06103	ACC		0.622	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		20	621	0	0	0	1	0	20	621					G	19339148	A	G	19339148	3	3	79	1	0	0	0	0	1	0	0	0	10246	275	10	4	2745	4	NCAN	19	19339148	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30194	19339148	39789835	18918	29235											
NCAN	1463	broad.mit.edu	37	chr19	19344688	19344688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtagctgtgatcaggGcttcgccggggagaactgtg	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	ENST00000252575.6	+	9	3209	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCAN_ENST00000538881.1_Missense_Mutation_p.G488D|RNU6-1028P_ENST00000517164.1_RNA	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1037	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	TGTGATCAGGGCTTCGCCGGG	0.517																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3109-3111)gGc>gAc		neurocan							146	110	122					19																	19344688		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19344688G>A	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.3110G>A	19.37:g.19344688G>A	ENSP00000252575:p.Gly1037Asp					NCAN_ENST00000538881.1_Missense_Mutation_p.G488D	p.G1037D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		9	3153	+			1037			EGF-like 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3110G>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443611	0.83993	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.98192	-3.78;-4.78	4.73	4.73	0.59995	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38720	N	0.001585	D	0.98924	0.9635	M	0.86178	2.8	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99342	1.0912	10	0.87932	D	0	.	15.5873	0.76495	0.0:0.0:1.0:0.0	.	1051;1037	Q4LE67;O14594	.;NCAN_HUMAN	D	1051;1037;488	ENSP00000252575:G1037D;ENSP00000442202:G488D	ENSP00000252575:G1037D	G	+	2	0	NCAN	19205688	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	8.872000	0.92352	2.627000	0.88993	0.563000	0.77884	GGC		0.517	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		62	280	0	0	0	1	0	62	280					A	19344688	G	A	19344688	3	1	79	1	0	0	0	0	1	0	0	0	10246	1203	42	2	3140	2	NCAN	19	19344688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5540	19344688	39784295	18919	29236											
NCAN	1463	broad.mit.edu	37	chr19	19351435	19351435	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcatgaaaacacgtggAtcggcctgaacgacaggatc	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	ENST00000252575.6	+	12	3532	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V	NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)	AAACACGTGGATCGGCCTGAA	0.632																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3433-3435)Atc>Gtc		neurocan							146	104	119					19																	19351435		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19351435A>G	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.3433A>G	19.37:g.19351435A>G	ENSP00000252575:p.Ile1145Val					NCAN_ENST00000538881.1_Missense_Mutation_p.I596V	p.I1145V	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		12	3476	+			1145			C-type lectin.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3433A>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	a	17.84	3.487349	0.63962	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	T;T	0.28255	1.62;1.62	3.98	2.93	0.34026	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.289221	0.19360	N	0.116172	T	0.41050	0.1142	M	0.86178	2.8	0.39059	D	0.960496	B	0.33171	0.4	B	0.39465	0.3	T	0.38929	-0.9638	10	0.56958	D	0.05	.	8.5633	0.33525	0.8046:0.1953:0.0:0.0	.	1145	O14594	NCAN_HUMAN	V	1159;1145;596	ENSP00000252575:I1145V;ENSP00000442202:I596V	ENSP00000252575:I1145V	I	+	1	0	NCAN	19212435	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	6.913000	0.75759	0.557000	0.29117	0.240000	0.17902	ATC		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		32	330	0	0	0	1	0	32	330					G	19351435	A	G	19351435	3	3	79	1	0	0	0	0	1	0	0	0	10246	333	12	4	3475	4	NCAN	19	19351435	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6747	19351435	39777548	18920	29237											
SF4	57794	broad.mit.edu	37	chr19	19389537	19389537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccataaacttttccagctCgtctggaggcaggaagtctc	9	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19389537C>T	ENST00000247001.5	-	11	1944	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	533					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						TTTTCCAGCTCGTCTGGAGGC	0.592																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(1597-1599)Gag>Aag		SURP and G patch domain containing 1							43	37	39					19																	19389537		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19389537C>T	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.1597G>A	19.37:g.19389537C>T	ENSP00000247001:p.Glu533Lys						p.E533K	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			11	1944	-			533					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1597G>A	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525998	0.96431	.	.	ENSG00000105705	ENST00000247001	T	0.32515	1.45	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.56643	-0.7945	10	0.49607	T	0.09	.	17.4482	0.87584	0.0:1.0:0.0:0.0	.	533	Q8IWZ8	SUGP1_HUMAN	K	533	ENSP00000247001:E533K	ENSP00000247001:E533K	E	-	1	0	SUGP1	19250537	1.000000	0.71417	0.948000	0.38648	0.967000	0.64934	7.657000	0.83745	2.458000	0.83093	0.561000	0.74099	GAG		0.592	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		32	130	0	0	0	1	0	32	130					T	19389537	C	T	19389537	3	4	79	1	0	0	0	0	1	0	0	0	14205	893	31	1	356	1	SF4	19	19389537	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38102	19389537	39739446	18921	29238											
SF4	57794	broad.mit.edu	37	chr19	19391072	19391072	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agacccacaggcttccccttCtcatagccgagccccttgag	8	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19391072C>A	ENST00000247001.5	-	9	1619	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	424					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						GCTTCCCCTTCTCATAGCCGA	0.602																																						ENST00000247001.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						c.(1270-1272)gaG>gaT		SURP and G patch domain containing 1							91	82	85					19																	19391072		2203	4300	6503	SO:0001583	missense	57794				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	g.chr19:19391072C>A	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.1272G>T	19.37:g.19391072C>A	ENSP00000247001:p.Glu424Asp						p.E424D	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN			9	1619	-			424					O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	c.1272G>T	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402382	0.25291	.	.	ENSG00000105705	ENST00000247001	T	0.23552	1.9	4.6	4.6	0.57074	.	0.213520	0.39146	N	0.001444	T	0.11153	0.0272	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.10450	0.005	T	0.17440	-1.0369	10	0.19590	T	0.45	.	6.7122	0.23284	0.0:0.7194:0.1826:0.098	.	424	Q8IWZ8	SUGP1_HUMAN	D	424	ENSP00000247001:E424D	ENSP00000247001:E424D	E	-	3	2	SUGP1	19252072	0.970000	0.33590	1.000000	0.80357	0.665000	0.39181	0.146000	0.16180	2.128000	0.65567	0.313000	0.20887	GAG		0.602	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4	NM_021164		41	421	1	0	6.45866e-13	1	6.95527e-13	41	421					A	19391072	C	A	19391072	3	1	79	1	0	0	0	0	1	0	0	0	14205	912	32	3	689	3	SF4	19	19391072	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1535	19391072	39737911	18922	29239											
KIAA0892	23383	broad.mit.edu	37	chr19	19454678	19454678	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccatcctgtcatccttcCaagtgatcctgctggagcac	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19454678C>T	ENST00000392313.6	+	10	1185	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*	MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q336*	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	336					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						GTCATCCTTCCAAGTGATCCT	0.637																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1006-1008)Caa>Taa		MAU2 sister chromatid cohesion factor							108	108	108					19																	19454678		2130	4244	6374	SO:0001587	stop_gained	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19454678C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1006C>T	19.37:g.19454678C>T	ENSP00000376127:p.Gln336*					MAU2_ENST00000585823.2_3'UTR|MAU2_ENST00000262815.8_Nonsense_Mutation_p.Q336*	p.Q336*	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			10	1052	+			336					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Nonsense_Mutation	SNP	ENST00000392313.6	37	c.1006C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	38	7.116730	0.98074	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	17.3016	0.87183	0.0:1.0:0.0:0.0	.	.	.	.	X	336	.	ENSP00000262815:Q336X	Q	+	1	0	MAU2	19315678	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.475000	0.81041	2.435000	0.82474	0.561000	0.74099	CAA		0.637	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		151	606	0	0	0	1	0	151	606					T	19454678	C	T	19454678	4	4	79	1	0	0	0	0	0	1	0	0	8226	595	21	2	1044	2	KIAA0892	19	19454678	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63606	19454678	39674305	18923	29240											
KIAA0892	23383	broad.mit.edu	37	chr19	19458130	19458130	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccttcatcgtcaccaaCctggcgagtgtgtatatacg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19458130C>T	ENST00000392313.6	+	13	1442	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	MAU2_ENST00000262815.8_Silent_p.N421N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	421					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						TCGTCACCAACCTGGCGAGTG	0.542																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1261-1263)aaC>aaT		MAU2 sister chromatid cohesion factor							151	128	136					19																	19458130		2203	4300	6503	SO:0001819	synonymous_variant	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19458130C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1263C>T	19.37:g.19458130C>T						MAU2_ENST00000262815.8_Silent_p.N421N	p.N421N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			13	1309	+			421					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	c.1263C>T	CCDS32969.2																																																																																				0.542	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		59	293	0	0	0	1	0	59	293					T	19458130	C	T	19458130	2	4	79	1	0	0	0	0	0	0	0	1	8226	506	18	2		2	KIAA0892	19	19458130	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3452	19458130	39670853	18924	29241											
KIAA0892	23383	broad.mit.edu	37	chr19	19465197	19465197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtgcctgccatgcagCtcgccagcaagatcccggac	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19465197C>T	ENST00000392313.6	+	17	1761	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	MAU2_ENST00000262815.8_Missense_Mutation_p.L528F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	528					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						TGCCATGCAGCTCGCCAGCAA	0.622																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1582-1584)Ctc>Ttc		MAU2 sister chromatid cohesion factor							124	93	103					19																	19465197		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19465197C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1582C>T	19.37:g.19465197C>T	ENSP00000376127:p.Leu528Phe					MAU2_ENST00000262815.8_Missense_Mutation_p.L528F	p.L528F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			17	1628	+			528					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1582C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812316	0.70912	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.71108	0.3301	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	0.999;0.991;1.0	D;D;D	0.80764	0.994;0.986;0.993	T	0.71965	-0.4433	9	0.54805	T	0.06	.	11.4414	0.50099	0.0:0.9172:0.0:0.0828	.	104;133;528	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	F	528	.	ENSP00000262815:L528F	L	+	1	0	MAU2	19326197	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.516000	0.45520	2.605000	0.88082	0.561000	0.74099	CTC		0.622	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		31	181	0	0	0	1	0	31	181					T	19465197	C	T	19465197	3	4	79	1	0	0	0	0	1	0	0	0	8226	797	28	2	1648	2	KIAA0892	19	19465197	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7067	19465197	39663786	18925	29242											
GATAD2A	54815	broad.mit.edu	37	chr19	19609351	19609351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacctctgccgagtctccaGcaagccgacaggcggccgcc	11	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19609351G>A	ENST00000360315.3	+	8	1336	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	GATAD2A_ENST00000404158.1_Missense_Mutation_p.A342T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T|GATAD2A_ENST00000537887.1_5'UTR	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	342	CR2; histone tail-binding.				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						CGAGTCTCCAGCAAGCCGACA	0.647																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1024-1026)Gca>Aca		GATA zinc finger domain containing 2A							32	37	35					19																	19609351		2203	4299	6502	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19609351G>A	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.1024G>A	19.37:g.19609351G>A	ENSP00000353463:p.Ala342Thr					GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000429563.2_Missense_Mutation_p.A169T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000358713.3_Missense_Mutation_p.A342T|GATAD2A_ENST00000252577.5_Missense_Mutation_p.A342T	p.A342T			Q86YP4	P66A_HUMAN			10	1442	+			342					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1024G>A	CCDS12402.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472267	0.84533	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.58210	0.98;0.86;0.98;0.35	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.74290	-0.3713	9	.	.	.	-12.9224	18.3542	0.90351	0.0:0.0:1.0:0.0	.	169;361;342	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	T	342;342;361;342;169	ENSP00000353463:A342T;ENSP00000252577:A342T;ENSP00000351552:A342T;ENSP00000388416:A169T	.	A	+	1	0	GATAD2A	19470351	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	9.775000	0.98995	2.691000	0.91804	0.650000	0.86243	GCA		0.647	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		68	220	0	0	0	1	0	68	220					A	19609351	G	A	19609351	3	1	79	1	0	0	0	0	1	0	0	0	6288	971	34	2	1050	2	GATAD2A	19	19609351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	144154	19609351	39519632	18926	29243											
GATAD2A	54815	broad.mit.edu	37	chr19	19613287	19613287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagaaccgtgagcgccGgcaagggcagcgccacctcc	14	15	0	3	rs200840328		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19613287G>A	ENST00000360315.3	+	11	2035	c.1723G>A	c.(1723-1725)Ggc>Agc	p.G575S	GATAD2A_ENST00000404158.1_Missense_Mutation_p.G576S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	575					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						CGTGAGCGCCGGCAAGGGCAG	0.642																																						ENST00000404158.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(1726-1728)Ggc>Agc		GATA zinc finger domain containing 2A		G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	66	74	71		1723	-2.3	0	19		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GATAD2A	NM_017660.3	56	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	575/634	19613287	2,13004	2203	4300	6503	SO:0001583	missense	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19613287G>A	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.1723G>A	19.37:g.19613287G>A	ENSP00000353463:p.Gly575Ser					GATAD2A_ENST00000537887.1_Missense_Mutation_p.G204S|GATAD2A_ENST00000429563.2_Missense_Mutation_p.G378S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.G575S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.G550S	p.G576S			Q86YP4	P66A_HUMAN			13	2144	+			575					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	ENST00000360315.3	37	c.1726G>A	CCDS12402.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.707|2.707	-0.269549|-0.269549	0.05716|0.05716	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.42513|.	1.53;1.56;1.53;0.97|.	5.04|5.04	-2.26|-2.26	0.06867|0.06867	.|.	0.569617|.	0.19591|.	N|.	0.110628|.	T|T	0.32406|0.32406	0.0828|0.0828	L|L	0.34521|0.34521	1.04|1.04	0.20196|0.20196	N|N	0.99992|0.99992	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.06405|.	0.001;0.001;0.002|.	T|T	0.37979|0.37979	-0.9682|-0.9682	10|5	0.22109|.	T|.	0.4|.	-5.3751|-5.3751	9.6909|9.6909	0.40127|0.40127	0.5268:0.0:0.4732:0.0|0.5268:0.0:0.4732:0.0	.|.	378;595;575|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	S|Q	575;550;204;595;575;378|176	ENSP00000353463:G575S;ENSP00000252577:G550S;ENSP00000351552:G575S;ENSP00000388416:G378S|.	ENSP00000252577:G550S|.	G|R	+|+	1|2	0|0	GATAD2A|GATAD2A	19474287|19474287	0.037000|0.037000	0.19845|0.19845	0.047000|0.047000	0.18901|0.18901	0.125000|0.125000	0.20455|0.20455	0.302000|0.302000	0.19192|0.19192	-0.142000|-0.142000	0.11354|0.11354	-0.143000|-0.143000	0.13931|0.13931	GGC|CGG		0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660		147	591	0	0	0	1	0	147	591					A	19613287	G	A	19613287	3	1	79	1	0	0	0	0	1	0	0	0	6288	1116	39	1	1761	1	GATAD2A	19	19613287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3936	19613287	39515696	18927	29244											
TSSK6	51079	broad.mit.edu	37	chr19	19625951	19625951	+	5'Flank	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcacggcttgcagcaggtCggtggcggccgcttccatca	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19625951C>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.D96Y|NDUFA13_ENST00000512771.3_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.D96Y|NDUFA13_ENST00000503283.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TGCAGCAGGTCGGTGGCGGCC	0.657																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(286-288)Gac>Tac		testis-specific serine kinase 6							41	41	41					19																	19625951		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625951C>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625951C>A	Exception_encountered					TSSK6_ENST00000585580.3_Missense_Mutation_p.D96Y	p.D96Y			Q9BXA6	TSSK6_HUMAN			1	887	-			96			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.286G>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973641	0.53720	.	.	ENSG00000178093	ENST00000360913	T	0.29655	1.56	4.85	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	U	0.000534	T	0.60818	0.2298	M	0.93550	3.43	0.54753	D	0.99998	D	0.89917	1.0	D	0.91635	0.999	T	0.67692	-0.5605	10	0.87932	D	0	.	8.1209	0.30971	0.0:0.8907:0.0:0.1093	.	96	Q9BXA6	TSSK6_HUMAN	Y	96	ENSP00000354168:D96Y	ENSP00000354168:D96Y	D	-	1	0	TSSK6	19486951	0.991000	0.36638	1.000000	0.80357	0.253000	0.25986	2.936000	0.48971	2.252000	0.74401	0.306000	0.20318	GAC		0.657	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		59	341	1	0	8.72158e-25	1	9.98758e-25	59	341					A	19625951	C	A	19625951	1	1	79	0	1	0	0	0	0	0	0	0	16725	884	31	3		3	TSSK6	19	19625951	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12664	19625951	39503032	18928	29245											
TSSK6	51079	broad.mit.edu	37	chr19	19626064	19626064	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggatggacagctctcgcGgcaggaacttgttgacgaag	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19626064G>A	ENST00000507754.4	+	0	0				NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000252576.5_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.P58L|NDUFA13_ENST00000512771.3_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.P58L|NDUFA13_ENST00000503283.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CAGCTCTCGCGGCAGGAACTT	0.602																																						ENST00000360913.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(172-174)cCg>cTg		testis-specific serine kinase 6							59	53	55					19																	19626064		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19626064G>A	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"Mitochondrial respiratory chain complex / Complex I"	17194	protein-coding gene	gene with protein product	"complex I B16.6 subunit"	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626064G>A	Exception_encountered					TSSK6_ENST00000585580.3_Missense_Mutation_p.P58L	p.P58L			Q9BXA6	TSSK6_HUMAN			1	774	-			58			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.173C>T	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725415	0.89298	.	.	ENSG00000178093	ENST00000360913	T	0.20069	2.1	4.96	4.96	0.65561	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	0.41396	U	0.000886	T	0.20129	0.0484	N	0.10782	0.045	0.80722	D	1	P	0.51057	0.941	P	0.54060	0.741	T	0.05920	-1.0856	10	0.36615	T	0.2	.	13.7493	0.62897	0.0:0.0:1.0:0.0	.	58	Q9BXA6	TSSK6_HUMAN	L	58	ENSP00000354168:P58L	ENSP00000354168:P58L	P	-	2	0	TSSK6	19487064	1.000000	0.71417	0.985000	0.45067	0.937000	0.57800	4.371000	0.59523	2.324000	0.78689	0.306000	0.20318	CCG		0.602	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		67	267	0	0	0	1	0	67	267					A	19626064	G	A	19626064	1	1	79	0	1	0	0	0	0	0	0	0	16725	1116	39	1		1	TSSK6	19	19626064	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	19626064	39502919	18929	29246											
CILP2	148113	broad.mit.edu	37	chr19	19650526	19650526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaatggcgactgcactgGgcctggaaagacggtccgtg	15	11	0	1	rs142743091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19650526G>A	ENST00000291495.5	+	2	188	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	CILP2_ENST00000586018.1_Missense_Mutation_p.G35S	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	35						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						GACTGCACTGGGCCTGGAAAG	0.667																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(103-105)Ggc>Agc		cartilage intermediate layer protein 2		G	SER/GLY	0,4406		0,0,2203	91	91	91		103	3.2	0.9	19	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	CILP2	NM_153221.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	35/1157	19650526	1,13005	2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19650526G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.103G>A	19.37:g.19650526G>A	ENSP00000291495:p.Gly35Ser					CILP2_ENST00000291495.4_Missense_Mutation_p.G35S	p.G35S			Q8IUL8	CILP2_HUMAN			2	205	+			35					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.103G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958261	0.53400	0.0	1.16E-4	ENSG00000160161	ENST00000291495	T	0.52983	0.64	3.24	3.24	0.37175	.	0.140569	0.32218	N	0.006416	T	0.26085	0.0636	N	0.14661	0.345	0.37661	D	0.922776	B;B	0.19331	0.012;0.035	B;B	0.11329	0.006;0.006	T	0.13335	-1.0513	10	0.13853	T	0.58	-1.0353	10.2898	0.43588	0.0:0.0:1.0:0.0	.	35;35	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	S	35	ENSP00000291495:G35S	ENSP00000291495:G35S	G	+	1	0	CILP2	19511526	0.993000	0.37304	0.903000	0.35520	0.157000	0.22087	2.425000	0.44723	2.133000	0.65898	0.456000	0.33151	GGC		0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		23	838	0	0	0	1	0	23	838					A	19650526	G	A	19650526	3	1	79	1	0	0	0	0	1	0	0	0	3439	1232	43	2	109	2	CILP2	19	19650526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24462	19650526	39478457	18930	29247											
CILP2	148113	broad.mit.edu	37	chr19	19655592	19655592	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcgcgcctacgccaaCgacaagttcacccccagcga	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19655592C>T	ENST00000291495.5	+	8	2323	c.2238C>T	c.(2236-2238)aaC>aaT	p.N746N	CILP2_ENST00000586018.1_Silent_p.N752N	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	746						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						CCTACGCCAACGACAAGTTCA	0.687																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2254-2256)aaC>aaT		cartilage intermediate layer protein 2							17	19	19					19																	19655592		2192	4282	6474	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655592C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2238C>T	19.37:g.19655592C>T						CILP2_ENST00000291495.4_Silent_p.N746N	p.N752N			Q8IUL8	CILP2_HUMAN			8	2358	+			746					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.2256C>T	CCDS12405.1																																																																																				0.687	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		37	197	0	0	0	1	0	37	197					T	19655592	C	T	19655592	2	4	79	1	0	0	0	0	0	0	0	1	3439	535	19	1		1	CILP2	19	19655592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5066	19655592	39473391	18931	29248											
PBX4	80714	broad.mit.edu	37	chr19	19675846	19675846	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtagcctcttcttgaaacTtccccatgttctttttatac	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	ENST00000251203.9	-	6	1107	c.821A>G	c.(820-822)aAg>aGg	p.K274R		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	274					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TTCTTGAAACTTCCCCATGTT	0.522																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(820-822)aAg>aGg		pre-B-cell leukemia homeobox 4							337	342	341					19																	19675846		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19675846T>C	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"Homeoboxes / TALE class"	13403	protein-coding gene	gene with protein product		608127	"pre-B-cell leukemia transcription factor 4"				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.821A>G	19.37:g.19675846T>C	ENSP00000251203:p.Lys274Arg						p.K274R	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			6	1107	-			274					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.821A>G	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.170696	0.38315	.	.	ENSG00000105717	ENST00000251203	D	0.83591	-1.74	3.85	2.83	0.33086	Homeodomain-related (1);Homeobox (1);	0.063396	0.64402	N	0.000008	D	0.88459	0.6442	M	0.78049	2.395	0.46564	D	0.999109	D	0.63880	0.993	D	0.72625	0.978	D	0.85733	0.1332	10	0.44086	T	0.13	-18.6076	7.4495	0.27229	0.0:0.1075:0.0:0.8925	.	274	Q9BYU1	PBX4_HUMAN	R	274	ENSP00000251203:K274R	ENSP00000251203:K274R	K	-	2	0	PBX4	19536846	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	3.159000	0.50731	0.566000	0.29273	-0.453000	0.05500	AAG		0.522	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			374	1482	0	0	0	1	0	374	1482					C	19675846	T	C	19675846	3	2	79	1	0	0	0	0	1	0	0	0	11537	1609	56	4	315	4	PBX4	19	19675846	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20254	19675846	39453137	18932	29249											
LPAR2	9170	broad.mit.edu	37	chr19	19737613	19737613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcaggcagcagccccaGgcccagggcagccacccaca	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19737613G>A	ENST00000542587.1	-	5	1383	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	LPAR2_ENST00000586703.1_Silent_p.L161L|LPAR2_ENST00000407877.3_Silent_p.L161L|LPAR2_ENST00000589311.1_5'Flank			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	161					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						AGCAGCCCCAGGCCCAGGGCA	0.706																																						ENST00000542587.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(481-483)Ctg>Ttg		lysophosphatidic acid receptor 2							23	20	21					19																	19737613		2194	4294	6488	SO:0001819	synonymous_variant	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737613G>A	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.481C>T	19.37:g.19737613G>A						LPAR2_ENST00000586703.1_Silent_p.L161L|LPAR2_ENST00000407877.3_Silent_p.L161L	p.L161L			Q9HBW0	LPAR2_HUMAN			5	1383	-			161					O00543|O43431	Silent	SNP	ENST00000542587.1	37	c.481C>T	CCDS12407.1																																																																																				0.706	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		28	71	0	0	0	1	0	28	71					A	19737613	G	A	19737613	2	1	79	1	0	0	0	0	0	0	0	1	8943	991	35	2		2	LPAR2	19	19737613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61767	19737613	39391370	18933	29250											
GMIP	51291	broad.mit.edu	37	chr19	19752634	19752634	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctacctgtgaggggtacagGaccctctggggaggggccgc	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19752634G>A	ENST00000203556.4	-	4	360	c.223C>T	c.(223-225)Cct>Tct	p.P75S	GMIP_ENST00000587238.1_Missense_Mutation_p.P75S|GMIP_ENST00000445806.2_Missense_Mutation_p.P75S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	75					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						AGGGGTACAGGACCCTCTGGG	0.592																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(223-225)Cct>Tct		GEM interacting protein							25	25	25					19																	19752634		2203	4300	6503	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19752634G>A	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.223C>T	19.37:g.19752634G>A	ENSP00000203556:p.Pro75Ser					GMIP_ENST00000445806.2_Missense_Mutation_p.P75S|GMIP_ENST00000587238.1_Missense_Mutation_p.P75S	p.P75S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			4	360	-			75					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.223C>T	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	G	7.783	0.709920	0.15239	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.28666	1.6;1.6	4.54	3.5	0.40072	.	0.178990	0.27181	N	0.020545	T	0.24275	0.0588	L	0.47190	1.495	0.09310	N	1	B;B;B	0.32245	0.022;0.361;0.01	B;B;B	0.30646	0.016;0.118;0.016	T	0.13202	-1.0518	10	0.39692	T	0.17	-9.5134	8.2165	0.31514	0.1084:0.0:0.8916:0.0	.	75;75;75	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	S	75	ENSP00000203556:P75S;ENSP00000397075:P75S	ENSP00000203556:P75S	P	-	1	0	GMIP	19613634	0.265000	0.24102	0.053000	0.19242	0.458000	0.32498	1.855000	0.39378	1.126000	0.42016	0.561000	0.74099	CCT		0.592	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		4	96	0	0	0	1	0	4	96					A	19752634	G	A	19752634	3	1	79	1	0	0	0	0	1	0	0	0	6520	1174	41	2	2761	2	GMIP	19	19752634	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15021	19752634	39376349	18934	29251											
ATP13A1	57130	broad.mit.edu	37	chr19	19767835	19767835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgttgcccatcttccGgatctccgacatgttccgca	10	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19767835G>A	ENST00000357324.6	-	5	900	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP13A1_ENST00000496082.1_5'Flank|ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	292						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						CCCATCTTCCGGATCTCCGAC	0.602																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(874-876)Cgg>Tgg		ATPase type 13A1																																				SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19767835G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.874C>T	19.37:g.19767835G>A	ENSP00000349877:p.Arg292Trp					ATP13A1_ENST00000291503.5_Missense_Mutation_p.R174W	p.R292W	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			5	900	-			292					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.874C>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132679	0.77662	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.89552	-2.53;-2.53	5.36	4.32	0.51571	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.053509	0.64402	D	0.000001	D	0.96272	0.8784	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96452	0.9335	10	0.72032	D	0.01	-28.0434	11.1694	0.48563	0.0:0.0:0.6654:0.3346	.	292;174	Q9HD20;Q9HD20-2	AT131_HUMAN;.	W	174;292	ENSP00000291503:R174W;ENSP00000349877:R292W	ENSP00000291503:R174W	R	-	1	2	ATP13A1	19628835	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.171000	0.64996	1.253000	0.44018	0.563000	0.77884	CGG		0.602	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		10	50	0	0	0	1	0	10	50					A	19767835	G	A	19767835	3	1	79	1	0	0	0	0	1	0	0	0	1124	1115	39	1	2828	1	ATP13A1	19	19767835	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15201	19767835	39361148	18935	29252											
ZNF101	94039	broad.mit.edu	37	chr19	19789533	19789533	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgggtctacattttAggaatccaatggaaagacca	8	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19789533A>C	ENST00000592502.1	+	3	240		c.e3-1		ZNF101_ENST00000415784.2_Splice_Site|ZNF101_ENST00000444249.2_Splice_Site			Q8IZC7	ZN101_HUMAN	zinc finger protein 101						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TCTACATTTTAGGAATCCAAT	0.358																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.e3-1		zinc finger protein 101							41	42	42					19																	19789533		2203	4300	6503	SO:0001630	splice_region_variant	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19789533A>C	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.131-1A>C	19.37:g.19789533A>C						ZNF101_ENST00000444249.2_Splice_Site|ZNF101_ENST00000415784.2_Splice_Site				Q8IZC7	ZN101_HUMAN			3	240	+								C9JU83|Q0VDG9	Splice_Site	SNP	ENST00000592502.1	37		CCDS32971.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720090	0.30503	.	.	ENSG00000181896	ENST00000318110;ENST00000415440	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3292	0.04231	0.5263:1.0E-4:1.0E-4:0.4736	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF101	19650533	0.412000	0.25392	0.638000	0.29380	0.638000	0.38207	1.917000	0.39996	0.263000	0.21812	0.260000	0.18958	.		0.358	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	Intron	42	159	0	0	0	1	0	42	159					C	19789533	A	C	19789533	5	2	79	1	0	0	0	0	0	0	1	0	17767	434	15	4	139	4	ZNF101	19	19789533	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21698	19789533	39339450	18936	29253											
ZNF101	94039	broad.mit.edu	37	chr19	19790189	19790189	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgctggacacaaacgatctGagtgtggtggggaatggaga	16	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19790189G>A	ENST00000592502.1	+	4	501	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAACGATCTGAGTGTGGTGG	0.527																																						ENST00000592502.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						c.(391-393)Gag>Aag		zinc finger protein 101							101	84	90					19																	19790189		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790189G>A	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.391G>A	19.37:g.19790189G>A	ENSP00000468049:p.Glu131Lys					ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.E11K	p.E131K			Q8IZC7	ZN101_HUMAN			4	501	+			131					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.391G>A	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812048	0.16537	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14266	2.52;3.36	0.235	0.235	0.15431	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.31548	0.328	B	0.27262	0.078	T	0.38972	-0.9636	9	0.33141	T	0.24	.	6.2532	0.20859	3.0E-4:0.0:0.9997:0.0	.	131	Q8IZC7	ZN101_HUMAN	K	131;131;11	ENSP00000319716:E131K;ENSP00000400952:E11K	ENSP00000319716:E131K	E	+	1	0	ZNF101	19651189	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-3.770000	0.00371	0.308000	0.22923	0.313000	0.20887	GAG		0.527	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204		30	369	0	0	0	1	0	30	369					A	19790189	G	A	19790189	3	1	79	1	0	0	0	0	1	0	0	0	17767	1291	45	2	405	2	ZNF101	19	19790189	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	656	19790189	39338794	18937	29254											
ZNF14	7561	broad.mit.edu	37	chr19	19822954	19822954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatgagttctttcatgcaatCgaagagaaatggaccaactg	9	7	2	2	rs3752153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19822954C>T	ENST00000344099.3	-	4	1274	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	379			R -> Q (in dbSNP:rs3752153).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCATGCAATCGAAGAGAAAT	0.373													C|||	10	0.00199681	0.0	0.0	5008	,	,		21811	0.0089		0.0	False		,,,				2504	0.001					ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(1135-1137)cGa>cAa		zinc finger protein 14		C	GLN/ARG	0,4406		0,0,2203	95	95	95		1136	0	0	19	dbSNP_107	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF14	NM_021030.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	379/643	19822954	1,13005	2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822954C>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1136G>A	19.37:g.19822954C>T	ENSP00000340514:p.Arg379Gln						p.R379Q	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1274	-		Renal(1328;0.0474)	379		R -> Q (in dbSNP:rs3752153).			B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1136G>A	CCDS12409.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	7.577	0.667896	0.14710	0.0	1.16E-4	ENSG00000105708	ENST00000344099	T	0.04275	3.66	1.12	0.0113	0.14086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01222	0.0040	N	0.21282	0.65	0.09310	N	1	P	0.40250	0.709	B	0.22386	0.039	T	0.36261	-0.9755	9	0.08179	T	0.78	.	1.8944	0.03255	0.3173:0.4539:0.0:0.2288	rs3752153;rs52811487;rs3752153	379	P17017	ZNF14_HUMAN	Q	379	ENSP00000340514:R379Q	ENSP00000340514:R379Q	R	-	2	0	ZNF14	19683954	0.001000	0.12720	0.019000	0.16419	0.869000	0.49853	0.632000	0.24583	0.040000	0.15660	-0.373000	0.07131	CGA		0.373	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		85	354	0	0	0	1	0	85	354					T	19822954	C	T	19822954	3	4	79	1	0	0	0	0	1	0	0	0	17781	884	31	1	796	1	ZNF14	19	19822954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32765	19822954	39306029	18938	29255											
ZNF14	7561	broad.mit.edu	37	chr19	19823186	19823186	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagggtttctctccacTatgagtccttttatgccttc	6	11	2	1	rs188838618		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19823186T>C	ENST00000344099.3	-	4	1042	c.904A>G	c.(904-906)Agt>Ggt	p.S302G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	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)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCTCTCCACTATGAGTCCTT	0.388													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20745	0.0		0.0	False		,,,				2504	0.0					ENST00000344099.3																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(904-906)Agt>Ggt		zinc finger protein 14							42	42	42					19																	19823186		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19823186T>C	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.904A>G	19.37:g.19823186T>C	ENSP00000340514:p.Ser302Gly						p.S302G	NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN			4	1042	-		Renal(1328;0.0474)	302					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.904A>G	CCDS12409.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	17.64	3.438753	0.62955	.	.	ENSG00000105708	ENST00000344099	T	0.19669	2.13	1.8	1.8	0.24995	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21761	0.0524	L	0.60067	1.865	0.22240	N	0.999268	P	0.36086	0.536	B	0.40256	0.324	T	0.25222	-1.0138	9	0.87932	D	0	.	3.952	0.09374	0.3229:0.0:0.0:0.6771	.	302	P17017	ZNF14_HUMAN	G	302	ENSP00000340514:S302G	ENSP00000340514:S302G	S	-	1	0	ZNF14	19684186	1.000000	0.71417	0.031000	0.17742	0.777000	0.43975	2.010000	0.40913	0.811000	0.34303	0.383000	0.25322	AGT		0.388	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		9	206	0	0	0	1	0	9	206					C	19823186	T	C	19823186	3	2	79	1	0	0	0	0	1	0	0	0	17781	1522	53	4	1028	4	ZNF14	19	19823186	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	232	19823186	39305797	18939	29256											
ZNF90	7643	broad.mit.edu	37	chr19	20215098	20215098	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattctctctggaggagtgGcattgcctggacactgcaca	12	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20215098G>A	ENST00000418063.2	+	2	166	c.54G>A	c.(52-54)tgG>tgA	p.W18*	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						TGGAGGAGTGGCATTGCCTGG	0.428																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(52-54)tgG>tgA		zinc finger protein 90																																				SO:0001587	stop_gained	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20215098G>A	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.54G>A	19.37:g.20215098G>A	ENSP00000410466:p.Trp18*					ZNF90_ENST00000474284.1_Intron	p.W18*	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			2	166	+			18			KRAB.		B9EH87	Nonsense_Mutation	SNP	ENST00000418063.2	37	c.54G>A	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188450	0.38609	.	.	ENSG00000213988	ENST00000418063	.	.	.	1.11	1.11	0.20524	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6708	0.28457	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000410466:W18X	W	+	3	0	ZNF90	20076098	0.905000	0.30787	0.484000	0.27391	0.406000	0.30931	1.899000	0.39818	0.534000	0.28695	0.184000	0.17185	TGG		0.428	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		112	519	0	0	0	1	0	112	519					A	20215098	G	A	20215098	4	1	79	1	0	0	0	0	0	1	0	0	18252	1212	42	2	60	2	ZNF90	19	20215098	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	391912	20215098	38913885	18940	29257											
ZNF90	7643	broad.mit.edu	37	chr19	20229361	20229361	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatccttagtacacataagaGaatccatactggagagaaac	7	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20229361G>T	ENST00000418063.2	+	4	1110	c.998G>T	c.(997-999)aGa>aTa	p.R333I	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	333					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						ACACATAAGAGAATCCATACT	0.408																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(997-999)aGa>aTa		zinc finger protein 90							24	23	23					19																	20229361		692	1591	2283	SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20229361G>T	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.998G>T	19.37:g.20229361G>T	ENSP00000410466:p.Arg333Ile					ZNF90_ENST00000474284.1_Intron	p.R333I	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			4	1110	+			333					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.998G>T	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	3.662	-0.069227	0.07228	.	.	ENSG00000213988	ENST00000418063	T	0.24908	1.83	1.18	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20700	0.0498	M	0.67625	2.065	0.39890	D	0.973755	B	0.24920	0.114	B	0.19666	0.026	T	0.05886	-1.0858	8	.	.	.	.	5.3534	0.16047	0.4754:0.0:0.5246:0.0	.	333	Q03938	ZNF90_HUMAN	I	333	ENSP00000410466:R333I	.	R	+	2	0	ZNF90	20090361	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.546000	0.02188	-0.850000	0.04152	-0.856000	0.03024	AGA		0.408	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		31	172	1	0	6.00712e-18	1	6.65163e-18	31	172					T	20229361	G	T	20229361	3	4	79	1	0	0	0	0	1	0	0	0	18252	942	33	3	1012	3	ZNF90	19	20229361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14263	20229361	38899622	18941	29258											
ZNF626	199777	broad.mit.edu	37	chr19	20807526	20807526	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatgaattatcttatgcGtagtaaggtctgaagaccgc	10	7	2	3	rs199778234		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20807526G>A	ENST00000601440.1	-	4	1303	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	386					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						TATCTTATGCGTAGTAAGGTC	0.383													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21858	0.0		0.0	False		,,,				2504	0.0					ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1156-1158)aCg>aTg		zinc finger protein 626		G	MET/THR	1,4285		0,1,2142	60	63	62		1157	-1.5	0	19		62	4,8558		0,4,4277	no	missense	ZNF626	NM_001076675.2	81	0,5,6419	AA,AG,GG		0.0467,0.0233,0.0389	possibly-damaging	386/529	20807526	5,12843	2143	4281	6424	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807526G>A	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.1157C>T	19.37:g.20807526G>A	ENSP00000469958:p.Thr386Met					CTC-513N18.7_ENST00000595094.1_lincRNA	p.T386M	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1303	-			386					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1157C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	8.123	0.781388	0.16120	2.33E-4	4.67E-4	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	N	0.21240	0.645	0.09310	N	1	D	0.63880	0.993	P	0.52793	0.709	T	0.14924	-1.0455	8	0.52906	T	0.07	.	2.2019	0.03926	0.3045:0.3393:0.3562:0.0	.	386	Q68DY1	ZN626_HUMAN	M	386;310;386	.	ENSP00000445201:T386M	T	-	2	0	ZNF626	20599366	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-7.731000	0.00031	0.284000	0.22305	0.289000	0.19496	ACG		0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		72	334	0	0	0	1	0	72	334					A	20807526	G	A	20807526	3	1	79	1	0	0	0	0	1	0	0	0	18103	1145	40	1	433	1	ZNF626	19	20807526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	578165	20807526	38321457	18942	29259											
ZNF626	199777	broad.mit.edu	37	chr19	20808152	20808152	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaaaagctttgccacaTtctatatatttgaaaggttt	6	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20808152T>C	ENST00000601440.1	-	4	677	c.531A>G	c.(529-531)gaA>gaG	p.E177E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTTGCCACATTCTATATATT	0.343																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(529-531)gaA>gaG		zinc finger protein 626							69	67	67					19																	20808152		2067	4246	6313	SO:0001819	synonymous_variant	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808152T>C	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.531A>G	19.37:g.20808152T>C						CTC-513N18.7_ENST00000595094.1_lincRNA	p.E177E	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	677	-			177					Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	c.531A>G	CCDS42535.1																																																																																				0.343	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		50	212	0	0	0	1	0	50	212					C	20808152	T	C	20808152	2	2	79	1	0	0	0	0	0	0	0	1	18103	1490	52	4		4	ZNF626	19	20808152	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	626	20808152	38320831	18943	29260											
ZNF85	7639	broad.mit.edu	37	chr19	21131671	21131671	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttaccattaagaaaaggCtgtgaaagtatggatgagtg	11	3	0	3	rs199813082		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131671C>A	ENST00000328178.8	+	4	464	c.351C>A	c.(349-351)ggC>ggA	p.G117G	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.G84G|ZNF85_ENST00000601023.1_Silent_p.G58G	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	117					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGAAAAGGCTGTGAAAGTA	0.353																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(172-174)ggC>ggA		zinc finger protein 85							60	61	61					19																	21131671		2203	4299	6502	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131671C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.351C>A	19.37:g.21131671C>A						ZNF85_ENST00000345030.6_Silent_p.G84G|ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000328178.8_Silent_p.G117G	p.G58G			Q03923	ZNF85_HUMAN			2	820	+			117			KRAB.		B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.174C>A	CCDS32977.1																																																																																				0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		57	288	1	0	1.67886e-27	1	1.94484e-27	57	288					A	21131671	C	A	21131671	2	1	79	1	0	0	0	0	0	0	0	1	18246	784	28	3		3	ZNF85	19	21131671	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323519	21131671	37997312	18944	29261											
ZNF85	7639	broad.mit.edu	37	chr19	21131956	21131956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtggaaaagcctttaaCtggtcctcaacccttactaa	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131956C>T	ENST00000328178.8	+	4	749	c.636C>T	c.(634-636)aaC>aaT	p.N212N	ZNF85_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000601023.1_Silent_p.N153N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	212					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGCCTTTAACTGGTCCTCAA	0.368																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(457-459)aaC>aaT		zinc finger protein 85							38	41	40					19																	21131956		2196	4296	6492	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131956C>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.636C>T	19.37:g.21131956C>T						ZNF85_ENST00000345030.6_Silent_p.N179N|ZNF85_ENST00000328178.8_Silent_p.N212N	p.N153N			Q03923	ZNF85_HUMAN			2	1105	+			212					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.459C>T	CCDS32977.1																																																																																				0.368	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		58	198	0	0	0	1	0	58	198					T	21131956	C	T	21131956	2	4	79	1	0	0	0	0	0	0	0	1	18246	564	20	2		2	ZNF85	19	21131956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	285	21131956	37997027	18945	29262											
ZNF85	7639	broad.mit.edu	37	chr19	21132044	21132044	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaagcctttaaccagTcctcaaaccttattaaacat	5	10	1	0	rs557006224		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132044T>C	ENST00000328178.8	+	4	837	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000601023.1_Missense_Mutation_p.S183P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	242					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTAACCAGTCCTCAAACCT	0.358																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(547-549)Tcc>Ccc		zinc finger protein 85							27	30	29					19																	21132044		2185	4280	6465	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132044T>C	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.724T>C	19.37:g.21132044T>C	ENSP00000329793:p.Ser242Pro					ZNF85_ENST00000345030.6_Missense_Mutation_p.S209P|ZNF85_ENST00000328178.8_Missense_Mutation_p.S242P	p.S183P			Q03923	ZNF85_HUMAN			2	1193	+			242					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.547T>C	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	5.177	0.218265	0.09810	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.01084	5.36;5.36	1.35	-2.7	0.06004	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	L	0.28115	0.83	0.09310	N	1	B;P;B	0.41748	0.016;0.761;0.012	B;B;B	0.29942	0.013;0.109;0.016	T	0.45934	-0.9227	9	0.48119	T	0.1	.	0.2719	0.00232	0.3076:0.2934:0.1852:0.2138	.	209;183;242	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	P	242;209;117	ENSP00000329793:S242P;ENSP00000342340:S209P	ENSP00000329793:S242P	S	+	1	0	ZNF85	20923884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.366000	0.08064	-0.464000	0.05259	TCC		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		36	196	0	0	0	1	0	36	196					C	21132044	T	C	21132044	3	2	79	1	0	0	0	0	1	0	0	0	18246	1667	58	4	738	4	ZNF85	19	21132044	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	88	21132044	37996939	18946	29263											
ZNF85	7639	broad.mit.edu	37	chr19	21132125	21132125	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgtggcaaaacttttaacCgattctcaactcttactacc	4	11	2	0	rs535681613		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132125C>T	ENST00000328178.8	+	4	918	c.805C>T	c.(805-807)Cga>Tga	p.R269*	ZNF85_ENST00000345030.6_Nonsense_Mutation_p.R236*|ZNF85_ENST00000601023.1_Nonsense_Mutation_p.R210*	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	269					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AACTTTTAACCGATTCTCAAC	0.353													.|||	1	0.000199681	0.0	0.0	5008	,	,		18911	0.0		0.0	False		,,,				2504	0.001					ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(628-630)Cga>Tga		zinc finger protein 85							26	29	28					19																	21132125		2192	4289	6481	SO:0001587	stop_gained	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132125C>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.805C>T	19.37:g.21132125C>T	ENSP00000329793:p.Arg269*					ZNF85_ENST00000345030.6_Nonsense_Mutation_p.R236*|ZNF85_ENST00000328178.8_Nonsense_Mutation_p.R269*	p.R210*			Q03923	ZNF85_HUMAN			2	1274	+			269					B9ZVP4|Q6NVI0	Nonsense_Mutation	SNP	ENST00000328178.8	37	c.628C>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350174	0.41599	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	.	.	.	1.35	-2.7	0.06004	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	4.8448	0.13509	0.0:0.4312:0.3705:0.1983	.	.	.	.	X	269;236;144	.	ENSP00000329793:R269X	R	+	1	2	ZNF85	20923965	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.672000	0.00057	-1.323000	0.02275	-0.672000	0.03802	CGA		0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		40	175	0	0	0	1	0	40	175					T	21132125	C	T	21132125	4	4	79	1	0	0	0	0	0	1	0	0	18246	644	23	1	819	1	ZNF85	19	21132125	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81	21132125	37996858	18947	29264											
ZNF85	7639	broad.mit.edu	37	chr19	21132513	21132513	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaaccttAcaaatgtaaagaatgtggta	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132513A>G	ENST00000328178.8	+	4	1306	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y339C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	398					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCTTACAAATGTAAA	0.328																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1015-1017)tAc>tGc		zinc finger protein 85							31	34	33					19																	21132513		2199	4293	6492	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132513A>G	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1193A>G	19.37:g.21132513A>G	ENSP00000329793:p.Tyr398Cys					ZNF85_ENST00000345030.6_Missense_Mutation_p.Y365C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y398C	p.Y339C			Q03923	ZNF85_HUMAN			2	1662	+			398					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1016A>G	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	2.088	-0.409035	0.04799	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41259	0.1151	M	0.70903	2.155	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.91635	0.999;0.995;0.955	T	0.21999	-1.0229	9	0.66056	D	0.02	.	2.1393	0.03771	0.5521:0.0:0.193:0.2549	.	365;339;398	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	398;365;273	ENSP00000329793:Y398C;ENSP00000342340:Y365C	ENSP00000329793:Y398C	Y	+	2	0	ZNF85	20924353	0.000000	0.05858	0.038000	0.18304	0.086000	0.17979	-0.339000	0.07832	0.569000	0.29329	0.379000	0.24179	TAC		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		14	125	0	0	0	1	0	14	125					G	21132513	A	G	21132513	3	3	79	1	0	0	0	0	1	0	0	0	18246	391	14	4	1207	4	ZNF85	19	21132513	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	388	21132513	37996470	18948	29265											
ZNF85	7639	broad.mit.edu	37	chr19	21132849	21132849	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaaccatAcaaatgtgaagaatgtggca	10	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132849A>G	ENST00000328178.8	+	4	1642	c.1529A>G	c.(1528-1530)tAc>tGc	p.Y510C	ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000601023.1_Missense_Mutation_p.Y451C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	510					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCATACAAATGTGAA	0.358																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(1351-1353)tAc>tGc		zinc finger protein 85							27	30	29					19																	21132849		2154	4278	6432	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132849A>G	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1529A>G	19.37:g.21132849A>G	ENSP00000329793:p.Tyr510Cys					ZNF85_ENST00000345030.6_Missense_Mutation_p.Y477C|ZNF85_ENST00000328178.8_Missense_Mutation_p.Y510C	p.Y451C			Q03923	ZNF85_HUMAN			2	1998	+			510					B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.1352A>G	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452397	0.26074	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46814	0.1412	M	0.82630	2.6	0.23585	N	0.997358	B;D;D	0.89917	0.335;1.0;1.0	B;D;D	0.87578	0.079;0.998;0.99	T	0.21381	-1.0247	9	0.66056	D	0.02	.	4.7728	0.13164	0.5682:0.0:0.0:0.4318	.	477;451;510	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	510;477;385	ENSP00000329793:Y510C;ENSP00000342340:Y477C	ENSP00000329793:Y510C	Y	+	2	0	ZNF85	20924689	0.001000	0.12720	0.011000	0.14972	0.135000	0.20990	-0.032000	0.12266	0.569000	0.29329	0.379000	0.24179	TAC		0.358	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		40	174	0	0	0	1	0	40	174					G	21132849	A	G	21132849	3	3	79	1	0	0	0	0	1	0	0	0	18246	391	14	4	1543	4	ZNF85	19	21132849	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	336	21132849	37996134	18949	29266											
ZNF430	80264	broad.mit.edu	37	chr19	21205649	21205649	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaagtggatgccctgggGctgacaggaatcttctggtg	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21205649G>A	ENST00000261560.5	+	2	239	c.58G>A	c.(58-60)Gct>Act	p.A20T	ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T|ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	20					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						ATGCCCTGGGGCTGACAGGAA	0.443																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(58-60)Gct>Act		zinc finger protein 430							97	99	98					19																	21205649		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21205649G>A	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.58G>A	19.37:g.21205649G>A	ENSP00000261560:p.Ala20Thr					ZNF430_ENST00000595401.1_Missense_Mutation_p.A20T|ZNF430_ENST00000599548.1_Missense_Mutation_p.A20T	p.A20T	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			2	239	+			20					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.58G>A	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	10.33	1.320681	0.23994	.	.	ENSG00000118620	ENST00000261560	T	0.04862	3.54	0.82	-0.347	0.12617	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	0.09310	N	1	B;B	0.34103	0.32;0.437	B;B	0.27500	0.02;0.08	T	0.43410	-0.9393	9	0.11182	T	0.66	.	2.9792	0.05948	0.3723:0.0:0.6277:0.0	.	20;20	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	T	20	ENSP00000261560:A20T	ENSP00000261560:A20T	A	+	1	0	ZNF430	20997489	0.003000	0.15002	0.002000	0.10522	0.543000	0.35085	-1.040000	0.03546	-0.098000	0.12285	0.313000	0.20887	GCT		0.443	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		21	472	0	0	0	1	0	21	472					A	21205649	G	A	21205649	3	1	79	1	0	0	0	0	1	0	0	0	17957	1203	42	2	64	2	ZNF430	19	21205649	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72800	21205649	37923334	18950	29267											
ZNF430	80264	broad.mit.edu	37	chr19	21239790	21239790	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctaactcaacataaaagaAttcatattagggaaaattct	4	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21239790A>G	ENST00000261560.5	+	5	857	c.676A>G	c.(676-678)Att>Gtt	p.I226V	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	226					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						ACATAAAAGAATTCATATTAG	0.318																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(676-678)Att>Gtt		zinc finger protein 430							38	41	40					19																	21239790		2202	4298	6500	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21239790A>G	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.676A>G	19.37:g.21239790A>G	ENSP00000261560:p.Ile226Val						p.I226V	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	857	+			226					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.676A>G	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	1.137	-0.650570	0.03506	.	.	ENSG00000118620	ENST00000261560	T	0.00986	5.47	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05158	-0.105	0.09310	N	1	B;B	0.21225	0.001;0.053	B;B	0.26517	0.002;0.07	T	0.46748	-0.9169	9	0.52906	T	0.07	.	2.3597	0.04304	0.5631:0.0:0.1985:0.2384	.	225;226	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	V	226	ENSP00000261560:I226V	ENSP00000261560:I226V	I	+	1	0	ZNF430	21031630	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.127000	0.10547	-1.622000	0.01560	-1.685000	0.00733	ATT		0.318	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		38	150	0	0	0	1	0	38	150					G	21239790	A	G	21239790	3	3	79	1	0	0	0	0	1	0	0	0	17957	101	4	4	694	4	ZNF430	19	21239790	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	34141	21239790	37889193	18951	29268											
ZNF430	80264	broad.mit.edu	37	chr19	21240602	21240602	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttaaccaAttctcaaaccttactaaaca	4	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21240602A>C	ENST00000261560.5	+	5	1669	c.1488A>C	c.(1486-1488)caA>caC	p.Q496H	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	496					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						CTTTTAACCAATTCTCAAACC	0.363																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1486-1488)caA>caC		zinc finger protein 430							58	62	61					19																	21240602		2203	4300	6503	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240602A>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1488A>C	19.37:g.21240602A>C	ENSP00000261560:p.Gln496His						p.Q496H	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	1669	+			496					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1488A>C	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.881327	0.00532	.	.	ENSG00000118620	ENST00000261560	T	0.60920	0.15	1.0	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35913	0.0948	L	0.35644	1.08	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.23261	-1.0193	9	0.12103	T	0.63	.	2.1703	0.03847	0.2537:0.0:0.319:0.4272	.	495;496	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	H	496	ENSP00000261560:Q496H	ENSP00000261560:Q496H	Q	+	3	2	ZNF430	21032442	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.943000	0.00329	-0.629000	0.05575	-0.652000	0.03908	CAA		0.363	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		39	169	0	0	0	1	0	39	169					C	21240602	A	C	21240602	3	2	79	1	0	0	0	0	1	0	0	0	17957	98	4	4	1506	4	ZNF430	19	21240602	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	812	21240602	37888381	18952	29269											
ZNF708	7562	broad.mit.edu	37	chr19	21476148	21476148	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtttggggactggttaaaGgctttgccacattcttcaca	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476148G>T	ENST00000356929.3	-	4	1817	c.1620C>A	c.(1618-1620)gcC>gcA	p.A540A		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	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)			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						ACTGGTTAAAGGCTTTGCCAC	0.348																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1618-1620)gcC>gcA		zinc finger protein 708							61	67	65					19																	21476148		2203	4299	6502	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476148G>T	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.1620C>A	19.37:g.21476148G>T							p.A540A	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1817	-			540					Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.1620C>A	CCDS32980.1																																																																																				0.348	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		58	303	1	0	2.41709e-19	1	2.69562e-19	58	303					T	21476148	G	T	21476148	2	4	79	1	0	0	0	0	0	0	0	1	18165	987	35	3		3	ZNF708	19	21476148	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	235546	21476148	37652835	18953	29270											
ZNF708	7562	broad.mit.edu	37	chr19	21476283	21476283	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttctctccagtatgaattatCttatgtgtagtaagatgaga	8	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476283C>T	ENST00000356929.3	-	4	1682	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	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)			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						TATGAATTATCTTATGTGTAG	0.333																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(1483-1485)aaG>aaA		zinc finger protein 708							42	47	45					19																	21476283		2196	4295	6491	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476283C>T	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.1485G>A	19.37:g.21476283C>T							p.K495K	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	1682	-			495					Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.1485G>A	CCDS32980.1																																																																																				0.333	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		74	247	0	0	0	1	0	74	247					T	21476283	C	T	21476283	2	4	79	1	0	0	0	0	0	0	0	1	18165	912	32	2		2	ZNF708	19	21476283	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135	21476283	37652700	18954	29271											
ZNF708	7562	broad.mit.edu	37	chr19	21476977	21476977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtttagtaaggtttgagGaccggttaaaagctttgcca	11	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476977G>A	ENST00000356929.3	-	4	988	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						AAGGTTTGAGGACCGGTTAAA	0.358																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(790-792)tCc>tTc		zinc finger protein 708							45	49	48					19																	21476977		2160	4279	6439	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476977G>A	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.791C>T	19.37:g.21476977G>A	ENSP00000349401:p.Ser264Phe						p.S264F	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			4	988	-			264					Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.791C>T	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.758436	0.00084	.	.	ENSG00000182141	ENST00000356929	T	0.08008	3.14	1.05	-2.1	0.07210	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06371	0.0164	M	0.62723	1.935	0.09310	N	1	B	0.23540	0.087	B	0.20184	0.028	T	0.49214	-0.8963	9	0.09843	T	0.71	.	0.621	0.00778	0.1875:0.3287:0.2088:0.2751	.	264	P17019	ZN708_HUMAN	F	264	ENSP00000349401:S264F	ENSP00000349401:S264F	S	-	2	0	ZNF708	21268817	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.742000	0.01835	-1.500000	0.01819	-1.523000	0.00931	TCC		0.358	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		26	302	0	0	0	1	0	26	302					A	21476977	G	A	21476977	3	1	79	1	0	0	0	0	1	0	0	0	18165	1174	41	2	904	2	ZNF708	19	21476977	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	694	21476977	37652006	18955	29272											
ZNF708	7562	broad.mit.edu	37	chr19	21492088	21492088	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgtctcttcatattccaGggctcttttccttgctccag	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21492088G>T	ENST00000356929.3	-	3	383	c.186C>A	c.(184-186)ccC>ccA	p.P62P		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						TCATATTCCAGGGCTCTTTTC	0.418																																						ENST00000356929.3																			0				breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						c.(184-186)ccC>ccA		zinc finger protein 708							119	117	118					19																	21492088		2203	4300	6503	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21492088G>T	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.186C>A	19.37:g.21492088G>T							p.P62P	NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN			3	383	-			62			KRAB.		Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.186C>A	CCDS32980.1																																																																																				0.418	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		97	631	1	0	6.01805e-51	1	7.46351e-51	97	631					T	21492088	G	T	21492088	2	4	79	1	0	0	0	0	0	0	0	1	18165	987	35	3		3	ZNF708	19	21492088	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15111	21492088	37636895	18956	29273											
ZNF493	284443	broad.mit.edu	37	chr19	21605913	21605913	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatttgacaactacccagaGcaaaatatttcaatgtgata	6	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21605913G>T	ENST00000355504.4	+	2	334	c.68G>T	c.(67-69)aGc>aTc	p.S23I	ZNF493_ENST00000392288.2_Missense_Mutation_p.S151I|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						ACTACCCAGAGCAAAATATTT	0.284																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(451-453)aGc>aTc		zinc finger protein 493							77	79	79					19																	21605913		2203	4293	6496	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21605913G>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.68G>T	19.37:g.21605913G>T	ENSP00000347691:p.Ser23Ile					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.S23I	p.S151I	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	561	+			23					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.452G>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.96	1.795162	0.31777	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.09817	3.21;2.94	0.916	0.916	0.19373	.	.	.	.	.	T	0.22085	0.0532	M	0.82323	2.585	0.24499	N	0.994266	B;D	0.53151	0.246;0.958	B;P	0.51229	0.064;0.663	T	0.08351	-1.0726	9	0.72032	D	0.01	.	7.1683	0.25704	0.0:0.0:1.0:0.0	.	23;151	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	I	151;23	ENSP00000376110:S151I;ENSP00000347691:S23I	ENSP00000347691:S23I	S	+	2	0	ZNF493	21397753	0.000000	0.05858	0.212000	0.23672	0.213000	0.24496	-3.047000	0.00630	0.300000	0.22699	0.305000	0.20034	AGC		0.284	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		91	384	1	0	6.83469e-46	1	8.38912e-46	91	384					T	21605913	G	T	21605913	3	4	79	1	0	0	0	0	1	0	0	0	17997	971	34	3	529	3	ZNF493	19	21605913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113825	21605913	37523070	18957	29274											
ZNF429	353088	broad.mit.edu	37	chr19	21719209	21719209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caattaagaaaaggctataaAactgtaggtgattgtaagct	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21719209A>C	ENST00000358491.4	+	4	562	c.354A>C	c.(352-354)aaA>aaC	p.K118N	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGGCTATAAAACTGTAGGTG	0.343																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(352-354)aaA>aaC		zinc finger protein 429							72	75	74					19																	21719209		2123	4262	6385	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719209A>C	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.354A>C	19.37:g.21719209A>C	ENSP00000351280:p.Lys118Asn					ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	p.K118N	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	562	+			118					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.354A>C	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689066	0.29962	.	.	ENSG00000197013	ENST00000358491	T	0.07216	3.21	1.17	-0.284	0.12870	.	.	.	.	.	T	0.14874	0.0359	M	0.84948	2.725	0.09310	N	1	D	0.60575	0.988	P	0.49140	0.601	T	0.14200	-1.0481	9	0.56958	D	0.05	.	1.5337	0.02541	0.4502:0.0:0.2433:0.3065	.	118	Q86V71	ZN429_HUMAN	N	118	ENSP00000351280:K118N	ENSP00000351280:K118N	K	+	3	2	ZNF429	21511049	0.000000	0.05858	0.008000	0.14137	0.160000	0.22226	0.100000	0.15231	-0.287000	0.09064	0.248000	0.18094	AAA		0.343	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		35	201	0	0	0	1	0	35	201					C	21719209	A	C	21719209	3	2	79	1	0	0	0	0	1	0	0	0	17955	11	1	4	368	4	ZNF429	19	21719209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	113296	21719209	37409774	18958	29275											
ZNF429	353088	broad.mit.edu	37	chr19	21720670	21720670	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcttttaatcggtcCtcaagacttactcaacataa	6	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21720670C>T	ENST00000358491.4	+	4	2023	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAATCGGTCCTCAAGACTTA	0.373																																						ENST00000358491.4																			0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1813-1815)tcC>tcT		zinc finger protein 429							58	63	61					19																	21720670		2082	4255	6337	SO:0001819	synonymous_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720670C>T	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.1815C>T	19.37:g.21720670C>T						ZNF429_ENST00000597078.1_Intron	p.S605S	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN			4	2023	+			605					A6NLV7|Q9BZE6	Silent	SNP	ENST00000358491.4	37	c.1815C>T	CCDS42537.1																																																																																				0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		75	253	0	0	0	1	0	75	253					T	21720670	C	T	21720670	2	4	79	1	0	0	0	0	0	0	0	1	17955	668	24	2		2	ZNF429	19	21720670	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1461	21720670	37408313	18959	29276											
ZNF100	163227	broad.mit.edu	37	chr19	21909803	21909803	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgaggactcattaaaAgctttgccacattcttcaca	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21909803A>C	ENST00000358296.6	-	5	1509	c.1311T>G	c.(1309-1311)gcT>gcG	p.A437A	ZNF100_ENST00000305570.6_Silent_p.A373A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	437					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						ACTCATTAAAAGCTTTGCCAC	0.423																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1309-1311)gcT>gcG		zinc finger protein 100							69	76	73					19																	21909803		2200	4296	6496	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21909803A>C	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.1311T>G	19.37:g.21909803A>C						ZNF100_ENST00000305570.6_Silent_p.A373A	p.A437A	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	1509	-			437					Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.1311T>G	CCDS42538.1																																																																																				0.423	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		85	360	0	0	0	1	0	85	360					C	21909803	A	C	21909803	2	2	79	1	0	0	0	0	0	0	0	1	17766	59	3	4		4	ZNF100	19	21909803	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	189133	21909803	37219180	18960	29277											
ZNF100	163227	broad.mit.edu	37	chr19	21910465	21910465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttgagttaggtgtaaaaGcatgcaaaatgatttttcac	9	4	1	2	rs202116657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21910465G>A	ENST00000358296.6	-	5	847	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	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)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTGTAAAAGCATGCAAAAT	0.303																																						ENST00000358296.6																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						c.(649-651)Ctt>Ttt		zinc finger protein 100							54	57	56					19																	21910465		2066	4230	6296	SO:0001583	missense	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910465G>A	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.649C>T	19.37:g.21910465G>A	ENSP00000351042:p.Leu217Phe					ZNF100_ENST00000305570.6_Missense_Mutation_p.L153F	p.L217F	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN			5	847	-			217					Q7M4M0	Missense_Mutation	SNP	ENST00000358296.6	37	c.649C>T	CCDS42538.1	.	.	.	.	.	.	.	.	.	.	.	2.310	-0.358056	0.05138	.	.	ENSG00000197020	ENST00000358296	T	0.01005	5.45	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00784	0.0026	L	0.28649	0.875	0.09310	N	1	B;B	0.21688	0.043;0.059	B;B	0.27715	0.039;0.082	T	0.46555	-0.9183	9	0.08599	T	0.76	.	6.7097	0.23270	0.0:0.0:0.7206:0.2794	.	217;271	Q8IYN0;Q4G131	ZN100_HUMAN;.	F	217	ENSP00000351042:L217F	ENSP00000351042:L217F	L	-	1	0	ZNF100	21702305	.	.	0.006000	0.13384	0.171000	0.22731	.	.	-0.656000	0.05380	0.174000	0.16983	CTT		0.303	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		42	219	0	0	0	1	0	42	219					A	21910465	G	A	21910465	3	1	79	1	0	0	0	0	1	0	0	0	17766	971	34	2	983	2	ZNF100	19	21910465	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	662	21910465	37218518	18961	29278											
ZNF43	7594	broad.mit.edu	37	chr19	21990912	21990912	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtttctcctcagtgtgaaTtatcttatgtttagtaagag	10	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21990912T>A	ENST00000354959.4	-	4	2096	c.1927A>T	c.(1927-1929)Att>Ttt	p.I643F	ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F|ZNF43_ENST00000594012.1_Missense_Mutation_p.I637F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	643					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCAGTGTGAATTATCTTATGT	0.353																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1909-1911)Att>Ttt		zinc finger protein 43							43	46	45					19																	21990912		2200	4296	6496	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990912T>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1927A>T	19.37:g.21990912T>A	ENSP00000347045:p.Ile643Phe					ZNF43_ENST00000354959.4_Missense_Mutation_p.I643F|ZNF43_ENST00000595461.1_Missense_Mutation_p.I637F|ZNF43_ENST00000598381.1_Missense_Mutation_p.I637F	p.I637F	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2423	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	643					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1909A>T	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	t	8.737	0.918085	0.17982	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.18338	2.22	1.21	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30039	0.0752	L	0.54908	1.71	0.29620	N	0.846279	D	0.69078	0.997	D	0.76071	0.987	T	0.11299	-1.0593	9	0.66056	D	0.02	.	4.7412	0.13013	0.277:0.0:0.0:0.723	.	643	P17038	ZNF43_HUMAN	F	642;643	ENSP00000347045:I643F	ENSP00000347045:I643F	I	-	1	0	ZNF43	21782752	0.001000	0.12720	0.050000	0.19076	0.925000	0.55904	0.826000	0.27407	0.808000	0.34231	0.254000	0.18369	ATT		0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		13	276	0	0	0	1	0	13	276					A	21990912	T	A	21990912	3	1	79	1	0	0	0	0	1	0	0	0	17956	1493	52	5	506	5	ZNF43	19	21990912	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	80447	21990912	37138071	18962	29279											
ZNF43	7594	broad.mit.edu	37	chr19	21991035	21991035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgaagattgggtaaaagCtttgccacattcttcacatt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21991035C>T	ENST00000354959.4	-	4	1973	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T|ZNF43_ENST00000594012.1_Missense_Mutation_p.A596T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	602					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGGGTAAAAGCTTTGCCACAT	0.353																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1786-1788)Gct>Act		zinc finger protein 43							47	50	49					19																	21991035		2203	4298	6501	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21991035C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1804G>A	19.37:g.21991035C>T	ENSP00000347045:p.Ala602Thr					ZNF43_ENST00000354959.4_Missense_Mutation_p.A602T|ZNF43_ENST00000595461.1_Missense_Mutation_p.A596T|ZNF43_ENST00000598381.1_Missense_Mutation_p.A596T	p.A596T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2300	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	602					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1786G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	c	11.18	1.564185	0.27915	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.16897	2.31	1.76	0.623	0.17654	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07188	0.0182	N	0.11560	0.145	0.23712	N	0.997041	B	0.33022	0.394	B	0.33121	0.158	T	0.29549	-1.0008	9	0.39692	T	0.17	.	0.8388	0.01145	0.2283:0.3779:0.2261:0.1677	.	602	P17038	ZNF43_HUMAN	T	601;602	ENSP00000347045:A602T	ENSP00000347045:A602T	A	-	1	0	ZNF43	21782875	0.000000	0.05858	0.066000	0.19879	0.802000	0.45316	-2.249000	0.01188	0.081000	0.16988	0.305000	0.20034	GCT		0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		42	204	0	0	0	1	0	42	204					T	21991035	C	T	21991035	3	4	79	1	0	0	0	0	1	0	0	0	17956	797	28	2	629	2	ZNF43	19	21991035	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123	21991035	37137948	18963	29280											
ZNF208	7757	broad.mit.edu	37	chr19	22154655	22154655	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgaaggctttgccacattCttcacatttgtagggttttt	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22154655C>T	ENST00000397126.4	-	4	3329	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1061					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)				TTGCCACATTCTTCACATTTG	0.453																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(3181-3183)Gaa>Aaa		zinc finger protein 208							127	129	129					19																	22154655		2140	4246	6386	SO:0001583	missense	7757							g.chr19:22154655C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3181G>A	19.37:g.22154655C>T	ENSP00000380315:p.Glu1061Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.E1061K	NM_007153.3	NP_009084.2					4	3329	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.3181G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07327	3.2	2.59	-0.806	0.10875	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	.	.	.	0.09310	N	1	P	0.40515	0.719	B	0.34038	0.174	T	0.35475	-0.9787	8	0.48119	T	0.1	.	7.6796	0.28505	0.0:0.6902:0.1824:0.1274	.	933	O43345	ZN208_HUMAN	K	1061;933	ENSP00000380315:E1061K	ENSP00000380315:E1061K	E	-	1	0	ZNF208	21946495	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	-0.696000	0.05104	0.119000	0.18210	0.297000	0.19635	GAA		0.453	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		131	579	0	0	0	1	0	131	579					T	22154655	C	T	22154655	3	4	79	1	0	0	0	0	1	0	0	0	17819	922	32	2	665	2	ZNF208	19	22154655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163620	22154655	36974328	18964	29281											
ZNF208	7757	broad.mit.edu	37	chr19	22155498	22155498	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaaagctttgccacattcttCacatttgtagggtttctcta	6	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22155498C>T	ENST00000397126.4	-	4	2486	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	780					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)				CCACATTCTTCACATTTGTAG	0.363																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2338-2340)Gaa>Aaa		zinc finger protein 208							40	44	43					19																	22155498		2072	4229	6301	SO:0001583	missense	7757							g.chr19:22155498C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2338G>A	19.37:g.22155498C>T	ENSP00000380315:p.Glu780Lys					ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.E780K	NM_007153.3	NP_009084.2					4	2486	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2338G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909089	0.00508	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16597	2.33	2.28	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10723	0.0262	.	.	.	0.09310	N	1	P	0.41498	0.752	P	0.46917	0.531	T	0.13791	-1.0496	8	0.07030	T	0.85	.	3.7366	0.08512	0.0:0.163:0.4103:0.4267	.	680	O43345	ZN208_HUMAN	K	780;680	ENSP00000380315:E780K	ENSP00000380315:E780K	E	-	1	0	ZNF208	21947338	0.000000	0.05858	0.352000	0.25734	0.210000	0.24377	-4.535000	0.00219	-0.123000	0.11745	0.280000	0.19369	GAA		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		23	256	0	0	0	1	0	23	256					T	22155498	C	T	22155498	3	4	79	1	0	0	0	0	1	0	0	0	17819	835	29	2	1508	2	ZNF208	19	22155498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	843	22155498	36973485	18965	29282											
ZNF208	7757	broad.mit.edu	37	chr19	22156630	22156630	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aacatactaaaacctttgccAcattcttcacatttgtaggg	5	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22156630A>G	ENST00000397126.4	-	4	1354	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	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)			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)				AACCTTTGCCACATTCTTCAC	0.383																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1204-1206)tgT>tgC		zinc finger protein 208							43	48	47					19																	22156630		1991	4208	6199	SO:0001819	synonymous_variant	7757							g.chr19:22156630A>G	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.1206T>C	19.37:g.22156630A>G						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.C402C	NM_007153.3	NP_009084.2					4	1354	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1206T>C	CCDS54240.1																																																																																				0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		39	280	0	0	0	1	0	39	280					G	22156630	A	G	22156630	2	3	79	1	0	0	0	0	0	0	0	1	17819	157	6	4		4	ZNF208	19	22156630	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1132	22156630	36972353	18966	29283											
ZNF257	113835	broad.mit.edu	37	chr19	22270975	22270975	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatgtctgataactacccaGagcaaaatgtatcaatgtga	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22270975G>T	ENST00000594947.1	+	4	567	c.423G>T	c.(421-423)caG>caT	p.Q141H	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	141					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)				TAACTACCCAGAGCAAAATGT	0.313																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(421-423)caG>caT		zinc finger protein 257							68	73	71					19																	22270975		2178	4290	6468	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22270975G>T	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.423G>T	19.37:g.22270975G>T	ENSP00000470209:p.Gln141His					ZNF257_ENST00000600162.1_3'UTR	p.Q141H	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			4	567	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	141					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.423G>T	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	3.686	-0.064607	0.07273	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	-0.301	0.12800	.	.	.	.	.	T	0.27169	0.0666	L	0.39085	1.19	0.09310	N	1	B	0.21520	0.057	B	0.22601	0.04	T	0.24154	-1.0168	8	0.37606	T	0.19	.	2.7022	0.05152	0.4382:0.0:0.5618:0.0	.	141	Q9Y2Q1	ZN257_HUMAN	H	141	.	ENSP00000380312:Q141H	Q	+	3	2	ZNF257	22062815	0.012000	0.17670	0.045000	0.18777	0.427000	0.31564	-0.124000	0.10595	0.308000	0.22923	0.313000	0.20887	CAG		0.313	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			44	204	1	0	1.22674e-20	1	1.37621e-20	44	204					T	22270975	G	T	22270975	3	4	79	1	0	0	0	0	1	0	0	0	17853	933	33	3	437	3	ZNF257	19	22270975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	114345	22270975	36858008	18967	29284											
ZNF676	163223	broad.mit.edu	37	chr19	22363338	22363338	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcttcacatTtgtagggcttctcttcagca	6	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363338T>G	ENST00000397121.2	-	3	1498	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	394					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)				TTCTTCACATTTGTAGGGCTT	0.423																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1180-1182)aAa>aCa		zinc finger protein 676							76	79	78					19																	22363338		2126	4263	6389	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363338T>G	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.1181A>C	19.37:g.22363338T>G	ENSP00000380310:p.Lys394Thr						p.K394T	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1498	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	394					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1181A>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	5.934	0.356324	0.11239	.	.	ENSG00000196109	ENST00000397121	T	0.58060	0.36	0.81	0.81	0.18732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54351	0.1853	L	0.28740	0.885	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.39078	-0.9631	9	0.59425	D	0.04	.	4.4263	0.11505	0.0:0.0:0.3425:0.6574	.	394	Q8N7Q3	ZN676_HUMAN	T	394	ENSP00000380310:K394T	ENSP00000380310:K394T	K	-	2	0	ZNF676	22155178	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-1.058000	0.03482	0.156000	0.19299	0.155000	0.16302	AAA		0.423	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		67	421	0	0	0	1	0	67	421					G	22363338	T	G	22363338	3	3	79	1	0	0	0	0	1	0	0	0	18136	1841	64	4	589	4	ZNF676	19	22363338	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	92363	22363338	36765645	18968	29285											
ZNF676	163223	broad.mit.edu	37	chr19	22363492	22363492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatcgattaaaagctttccCgcattcttcacatttgtagg	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363492C>T	ENST00000397121.2	-	3	1344	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	343					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)				AAAGCTTTCCCGCATTCTTCA	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1027-1029)Ggg>Agg		zinc finger protein 676							81	88	86					19																	22363492		2179	4283	6462	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363492C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1027G>A	19.37:g.22363492C>T	ENSP00000380310:p.Gly343Arg						p.G343R	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1344	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	343					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1027G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	13.10	2.137376	0.37728	.	.	ENSG00000196109	ENST00000397121	T	0.01484	4.84	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	M	0.84082	2.675	0.29973	N	0.818377	D	0.89917	1.0	D	0.79784	0.993	T	0.02505	-1.1149	9	0.72032	D	0.01	.	8.4137	0.32659	0.0:1.0:0.0:0.0	.	343	Q8N7Q3	ZN676_HUMAN	R	343	ENSP00000380310:G343R	ENSP00000380310:G343R	G	-	1	0	ZNF676	22155332	0.057000	0.20700	0.002000	0.10522	0.002000	0.02628	0.660000	0.25009	0.192000	0.20272	0.195000	0.17529	GGG		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		75	505	0	0	0	1	0	75	505					T	22363492	C	T	22363492	3	4	79	1	0	0	0	0	1	0	0	0	18136	652	23	1	743	1	ZNF676	19	22363492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	22363492	36765491	18969	29286											
ZNF676	163223	broad.mit.edu	37	chr19	22363697	22363697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggcttctcttcagcatgAattgccttatgtgtattaag	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363697A>G	ENST00000397121.2	-	3	1139	c.822T>C	c.(820-822)atT>atC	p.I274I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				CTTCAGCATGAATTGCCTTAT	0.393																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(820-822)atT>atC		zinc finger protein 676							84	90	88					19																	22363697		2129	4261	6390	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363697A>G	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.822T>C	19.37:g.22363697A>G							p.I274I	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1139	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	274					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.822T>C	CCDS42539.1																																																																																				0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		80	351	0	0	0	1	0	80	351					G	22363697	A	G	22363697	2	3	79	1	0	0	0	0	0	0	0	1	18136	242	9	4		4	ZNF676	19	22363697	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	205	22363697	36765286	18970	29287											
ZNF492	57615	broad.mit.edu	37	chr19	22846684	22846685	+	Frame_Shift_Ins	INS	-	-	A													aagtgatactgagaagatatINSaaaaaatgtggatgtgaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22846684_22846685insA	ENST00000456783.2	+	4	457_458	c.213_214insA	c.(214-216)aaafs	p.K72fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	72					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)				TGAGAAGATATAAAAAATGTGG	0.317																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(211-216)taaaaafs		zinc finger protein 492																																				SO:0001589	frameshift_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846684_22846685insA	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.219dupA	19.37:g.22846690_22846690dupA	ENSP00000413660:p.Lys72fs						p.*K71fs	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	457_458	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	71					Q08EI7|Q08EI8	Frame_Shift_Ins	INS	ENST00000456783.2	37	c.213_214insA	CCDS46032.1																																																																																				0.317	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		16	75						16	75	---	---	---	---	A	22846685	-	A	22846684	7	5	79	1	0	1	1	0	0	0	0	0	17996	1413	49	0	223	0	ZNF492	19	22846684	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	482987	22846684	36282299	18971	29288											
ZNF492	57615	broad.mit.edu	37	chr19	22847667	22847667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtgaagaatgtgGcaaagcttttaacctatcgt	8	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847667G>A	ENST00000456783.2	+	4	1440	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	399					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)				GAAGAATGTGGCAAAGCTTTT	0.383																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1195-1197)gGc>gAc		zinc finger protein 492							48	51	50					19																	22847667		2147	4262	6409	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847667G>A	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.1196G>A	19.37:g.22847667G>A	ENSP00000413660:p.Gly399Asp						p.G399D	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1440	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	399					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1196G>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	14.75	2.628231	0.46944	.	.	ENSG00000229676	ENST00000456783	T	0.01430	4.9	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	L	0.45051	1.395	0.38026	D	0.935016	D	0.89917	1.0	D	0.97110	1.0	T	0.50759	-0.8790	9	0.66056	D	0.02	.	7.4251	0.27094	0.0:0.0:1.0:0.0	.	399	Q9P255	ZN492_HUMAN	D	399	ENSP00000413660:G399D	ENSP00000413660:G399D	G	+	2	0	ZNF492	22639507	0.988000	0.35896	0.076000	0.20297	0.077000	0.17291	2.129000	0.42055	0.269000	0.21961	0.274000	0.19336	GGC		0.383	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		38	295	0	0	0	1	0	38	295					A	22847667	G	A	22847667	3	1	79	1	0	0	0	0	1	0	0	0	17996	1203	42	2	1206	2	ZNF492	19	22847667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	983	22847667	36281316	18972	29289											
ZNF492	57615	broad.mit.edu	37	chr19	22847718	22847718	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacacataagataattcataCtggagagaaaccctacaaat	5	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847718C>A	ENST00000456783.2	+	4	1491	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	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)			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)				ATAATTCATACTGGAGAGAAA	0.378																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1246-1248)aCt>aAt		zinc finger protein 492							39	41	40					19																	22847718		2114	4253	6367	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847718C>A	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.1247C>A	19.37:g.22847718C>A	ENSP00000413660:p.Thr416Asn						p.T416N	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1491	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	416					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1247C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	15.15	2.747685	0.49257	.	.	ENSG00000229676	ENST00000456783	T	0.26067	1.76	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34803	0.0910	L	0.53729	1.69	0.32544	N	0.533216	P	0.47545	0.897	P	0.55303	0.773	T	0.46470	-0.9189	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	416	Q9P255	ZN492_HUMAN	N	416	ENSP00000413660:T416N	ENSP00000413660:T416N	T	+	2	0	ZNF492	22639558	0.714000	0.27936	0.069000	0.20011	0.069000	0.16628	1.214000	0.32419	0.269000	0.21961	0.274000	0.19336	ACT		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		23	309	1	0	3.73988e-18	1	4.14332e-18	23	309					A	22847718	C	A	22847718	3	1	79	1	0	0	0	0	1	0	0	0	17996	565	20	3	1257	3	ZNF492	19	22847718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	22847718	36281265	18973	29290											
ZNF492	57615	broad.mit.edu	37	chr19	22847814	22847814	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattcatactggagagaagcCctacaaatatgaagaatgtg	9	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847814C>A	ENST00000456783.2	+	4	1587	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	448					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)				GGAGAGAAGCCCTACAAATAT	0.388																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1342-1344)cCc>cAc		zinc finger protein 492							36	52	47					19																	22847814		2045	4233	6278	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847814C>A	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.1343C>A	19.37:g.22847814C>A	ENSP00000413660:p.Pro448His						p.P448H	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			4	1587	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	448					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.1343C>A	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.417579	0.25552	.	.	ENSG00000229676	ENST00000456783	T	0.29397	1.57	1.12	1.12	0.20585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61578	0.2358	H	0.95365	3.66	0.09310	N	1	D	0.89917	1.0	D	0.70716	0.97	T	0.50600	-0.8809	9	0.87932	D	0	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	448	Q9P255	ZN492_HUMAN	H	448	ENSP00000413660:P448H	ENSP00000413660:P448H	P	+	2	0	ZNF492	22639654	0.050000	0.20438	0.059000	0.19551	0.059000	0.15707	1.365000	0.34182	0.269000	0.21961	0.274000	0.19336	CCC		0.388	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		29	345	1	0	6.38683e-12	1	6.83756e-12	29	345					A	22847814	C	A	22847814	3	1	79	1	0	0	0	0	1	0	0	0	17996	623	22	3	1353	3	ZNF492	19	22847814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	22847814	36281169	18974	29291											
ZNF99	7652	broad.mit.edu	37	chr19	22941527	22941527	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcttcacatttgtagggtTtctgtccagtatgaattatc	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941527T>G	ENST00000596209.1	-	4	1274	c.1184A>C	c.(1183-1185)aAa>aCa	p.K395T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K304T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				TTTGTAGGGTTTCTGTCCAGT	0.363																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(910-912)aAa>aCa		zinc finger protein 99							67	72	70					19																	22941527		2034	4221	6255	SO:0001583	missense	7652							g.chr19:22941527T>G	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.1184A>C	19.37:g.22941527T>G	ENSP00000472969:p.Lys395Thr					ZNF99_ENST00000596209.1_Missense_Mutation_p.K395T	p.K304T							5	910	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.911A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	12.39	1.924104	0.34002	.	.	ENSG00000213973	ENST00000397104	T	0.24908	1.83	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40595	0.1123	M	0.76727	2.345	0.32529	N	0.535216	D	0.53462	0.96	P	0.57204	0.815	T	0.53107	-0.8485	9	0.87932	D	0	.	7.4893	0.27452	0.0:0.0:0.0:1.0	.	304	A8MXY4	ZNF99_HUMAN	T	304	ENSP00000380293:K304T	ENSP00000380293:K304T	K	-	2	0	ZNF99	22733367	0.155000	0.22806	0.025000	0.17156	0.165000	0.22458	-0.043000	0.12043	0.566000	0.29273	0.325000	0.21440	AAA		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		71	282	0	0	0	1	0	71	282					G	22941527	T	G	22941527	3	3	79	1	0	0	0	0	1	0	0	0	18257	1841	64	4	2213	4	ZNF99	19	22941527	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	93713	22941527	36187456	18975	29292											
ZNF99	7652	broad.mit.edu	37	chr19	22941668	22941668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggactggctaaaagctTtgccacattcttcacatttg	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941668T>G	ENST00000596209.1	-	4	1133	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K257T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	348					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)				GCTAAAAGCTTTGCCACATTC	0.373																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(769-771)aAa>aCa		zinc finger protein 99							52	56	55					19																	22941668		1996	4203	6199	SO:0001583	missense	7652							g.chr19:22941668T>G	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.1043A>C	19.37:g.22941668T>G	ENSP00000472969:p.Lys348Thr					ZNF99_ENST00000596209.1_Missense_Mutation_p.K348T	p.K257T							5	769	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.770A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	11.91	1.778440	0.31502	.	.	ENSG00000213973	ENST00000397104	T	0.27890	1.64	1.52	0.405	0.16361	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49525	0.1562	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33854	-0.9852	9	0.66056	D	0.02	.	2.9213	0.05770	0.0:0.1716:0.2563:0.572	.	257	A8MXY4	ZNF99_HUMAN	T	257	ENSP00000380293:K257T	ENSP00000380293:K257T	K	-	2	0	ZNF99	22733508	0.009000	0.17119	0.001000	0.08648	0.095000	0.18619	1.634000	0.37123	-0.076000	0.12775	0.370000	0.22315	AAA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		14	390	0	0	0	1	0	14	390					G	22941668	T	G	22941668	3	3	79	1	0	0	0	0	1	0	0	0	18257	1841	64	4	2354	4	ZNF99	19	22941668	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	141	22941668	36187315	18976	29293											
ZNF91	7644	broad.mit.edu	37	chr19	23544948	23544948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tatgtctagttagggttgagGaccatagaaatgctttgcca	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23544948G>T	ENST00000300619.7	-	4	1038	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	278					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)				TAGGGTTGAGGACCATAGAAA	0.383																																						ENST00000300619.7																			0											c.(832-834)tCc>tAc		zinc finger protein 91							107	116	113					19																	23544948		2193	4296	6489	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544948G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.833C>A	19.37:g.23544948G>T	ENSP00000300619:p.Ser278Tyr					ZNF91_ENST00000397082.2_Missense_Mutation_p.S246Y|ZNF91_ENST00000599743.1_Intron	p.S278Y	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1038	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	278					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.833C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.904201	0.00512	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07908	3.15;3.15	1.62	-3.24	0.05094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	M	0.67569	2.06	0.09310	N	1	B;B	0.28998	0.193;0.23	B;B	0.16722	0.009;0.016	T	0.51826	-0.8656	9	0.02654	T	1	.	0.4085	0.00437	0.1996:0.2495:0.2755:0.2754	.	246;278	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	278;246	ENSP00000300619:S278Y;ENSP00000380272:S246Y	ENSP00000300619:S278Y	S	-	2	0	ZNF91	23336788	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.340000	0.02650	-2.012000	0.00950	-1.252000	0.01501	TCC		0.383	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		87	455	1	0	1.55521e-42	1	1.89442e-42	87	455					T	23544948	G	T	23544948	3	4	79	1	0	0	0	0	1	0	0	0	18253	1174	41	3	2746	3	ZNF91	19	23544948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	603280	23544948	35584035	18977	29294											
ZNF91	7644	broad.mit.edu	37	chr19	23545140	23545140	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaaggttttttcacatTctttacatttacaggacttc	5	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545140T>G	ENST00000300619.7	-	4	846	c.641A>C	c.(640-642)gAa>gCa	p.E214A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	214					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)				TTTTTCACATTCTTTACATTT	0.328																																						ENST00000300619.7																			0											c.(640-642)gAa>gCa		zinc finger protein 91							74	77	76					19																	23545140		2129	4266	6395	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545140T>G	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.641A>C	19.37:g.23545140T>G	ENSP00000300619:p.Glu214Ala					ZNF91_ENST00000397082.2_Missense_Mutation_p.E182A|ZNF91_ENST00000599743.1_Intron	p.E214A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	846	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	214					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.641A>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	6.550	0.469727	0.12461	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16897	2.31;2.31	1.64	0.397	0.16314	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24470	0.0593	M	0.88377	2.95	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.30090	-0.9990	9	0.66056	D	0.02	.	6.3699	0.21475	0.0:0.0:0.2523:0.7477	.	182;214	Q05481-2;Q05481	.;ZNF91_HUMAN	A	214;182	ENSP00000300619:E214A;ENSP00000380272:E182A	ENSP00000300619:E214A	E	-	2	0	ZNF91	23336980	0.000000	0.05858	0.012000	0.15200	0.012000	0.07955	0.261000	0.18442	-0.159000	0.11021	0.147000	0.16070	GAA		0.328	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		10	282	0	0	0	1	0	10	282					G	23545140	T	G	23545140	3	3	79	1	0	0	0	0	1	0	0	0	18253	1783	62	4	2938	4	ZNF91	19	23545140	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	192	23545140	35583843	18978	29295											
ZNF91	7644	broad.mit.edu	37	chr19	23545395	23545395	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaccttacactcatccAcacttttacaaccttttctt	2	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545395A>G	ENST00000300619.7	-	4	591	c.386T>C	c.(385-387)gTg>gCg	p.V129A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	129					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)				ACACTCATCCACACTTTTACA	0.348																																						ENST00000300619.7																			0											c.(385-387)gTg>gCg		zinc finger protein 91							75	80	78					19																	23545395		2154	4280	6434	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545395A>G	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.386T>C	19.37:g.23545395A>G	ENSP00000300619:p.Val129Ala					ZNF91_ENST00000397082.2_Missense_Mutation_p.V97A|ZNF91_ENST00000599743.1_Intron	p.V129A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	591	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	129					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.386T>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.140824	0.01728	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.44;3.36	0.987	0.987	0.19790	.	.	.	.	.	T	0.16257	0.0391	M	0.87269	2.87	0.09310	N	1	B;D	0.69078	0.178;0.997	B;D	0.63283	0.108;0.913	T	0.29882	-0.9997	9	0.05525	T	0.97	.	4.0615	0.09841	1.0:0.0:0.0:0.0	.	97;129	Q05481-2;Q05481	.;ZNF91_HUMAN	A	129;97	ENSP00000300619:V129A;ENSP00000380272:V97A	ENSP00000300619:V129A	V	-	2	0	ZNF91	23337235	0.001000	0.12720	0.017000	0.16124	0.336000	0.28762	1.320000	0.33666	0.368000	0.24481	0.147000	0.16070	GTG		0.348	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		69	386	0	0	0	1	0	69	386					G	23545395	A	G	23545395	3	3	79	1	0	0	0	0	1	0	0	0	18253	159	6	4	3193	4	ZNF91	19	23545395	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	255	23545395	35583588	18979	29296											
ZNF675	171392	broad.mit.edu	37	chr19	23836530	23836530	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagtgtttaaaagctttgCcacattctttacatttgtag	8	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23836530C>T	ENST00000359788.4	-	4	1373	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	402					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)				AAAAGCTTTGCCACATTCTTT	0.393																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1204-1206)gGc>gAc		zinc finger protein 675							62	63	63					19																	23836530		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836530C>T		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.1205G>A	19.37:g.23836530C>T	ENSP00000352836:p.Gly402Asp					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.G402D	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1373	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	402					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.1205G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	12.56	1.975174	0.34848	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.21324	0.655	0.30822	N	0.737711	P	0.51791	0.948	P	0.52159	0.691	T	0.22347	-1.0219	9	0.87932	D	0	.	8.3949	0.32550	0.0:1.0:0.0:0.0	.	402	Q8TD23	ZN675_HUMAN	D	402	ENSP00000352836:G402D	ENSP00000352836:G402D	G	-	2	0	ZNF675	23628370	0.046000	0.20272	0.076000	0.20297	0.071000	0.16799	0.091000	0.15046	0.482000	0.27582	0.484000	0.47621	GGC		0.393	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		14	338	0	0	0	1	0	14	338					T	23836530	C	T	23836530	3	4	79	1	0	0	0	0	1	0	0	0	18135	739	26	2	505	2	ZNF675	19	23836530	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291135	23836530	35292453	18980	29297											
ZNF675	171392	broad.mit.edu	37	chr19	23837503	23837503	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggcaaaatgagaacAcattactgaaagaaataaaa	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23837503A>C	ENST00000359788.4	-	4	400	c.232T>G	c.(232-234)Tgt>Ggt	p.C78G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	78					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)				AAATGAGAACACATTACTGAA	0.289																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(232-234)Tgt>Ggt		zinc finger protein 675							25	27	26					19																	23837503		2187	4272	6459	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23837503A>C		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.232T>G	19.37:g.23837503A>C	ENSP00000352836:p.Cys78Gly					ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.C78G	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	400	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	78					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.232T>G	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	5.278	0.236659	0.10023	.	.	ENSG00000197372	ENST00000359788	T	0.07444	3.19	0.458	0.458	0.16670	.	.	.	.	.	T	0.10423	0.0255	M	0.76170	2.325	0.19575	N	0.999961	B	0.17667	0.023	B	0.20577	0.03	T	0.33163	-0.9879	8	0.25751	T	0.34	.	.	.	.	.	78	Q8TD23	ZN675_HUMAN	G	78	ENSP00000352836:C78G	ENSP00000352836:C78G	C	-	1	0	ZNF675	23629343	0.312000	0.24545	0.016000	0.15963	0.014000	0.08584	0.397000	0.20883	0.407000	0.25591	0.397000	0.26171	TGT		0.289	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		18	174	0	0	0	1	0	18	174					C	23837503	A	C	23837503	3	2	79	1	0	0	0	0	1	0	0	0	18135	159	6	4	1478	4	ZNF675	19	23837503	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	973	23837503	35291480	18981	29298											
ZNF675	171392	broad.mit.edu	37	chr19	23845935	23845935	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccagagagaattctatgGccacatccctaaatgtcaac	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23845935G>A	ENST00000359788.4	-	2	197	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	10	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)				GAATTCTATGGCCACATCCCT	0.393																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(28-30)gCc>gTc		zinc finger protein 675							94	101	99					19																	23845935		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23845935G>A		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.29C>T	19.37:g.23845935G>A	ENSP00000352836:p.Ala10Val					ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V	p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			2	197	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	10			KRAB.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.29C>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.561883	0.27915	.	.	ENSG00000197372	ENST00000359788	T	0.03301	3.98	0.926	0.926	0.19430	Krueppel-associated box (4);	.	.	.	.	T	0.08268	0.0206	M	0.83312	2.635	0.09310	N	0.999999	P	0.35456	0.502	B	0.41619	0.361	T	0.18304	-1.0341	9	0.51188	T	0.08	.	4.9893	0.14205	0.0:0.0:1.0:0.0	.	10	Q8TD23	ZN675_HUMAN	V	10	ENSP00000352836:A10V	ENSP00000352836:A10V	A	-	2	0	ZNF675	23637775	0.198000	0.23374	0.049000	0.19019	0.050000	0.14768	1.691000	0.37721	0.308000	0.22923	0.313000	0.20887	GCC		0.393	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		123	590	0	0	0	1	0	123	590					A	23845935	G	A	23845935	3	1	79	1	0	0	0	0	1	0	0	0	18135	1203	42	2	1689	2	ZNF675	19	23845935	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8432	23845935	35283048	18982	29299											
ZNF681	148213	broad.mit.edu	37	chr19	23927387	23927387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatgtctggtaaggtgtgagGactggttgaaagctttgcca	14	5	1	2	rs543743392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23927387G>A	ENST00000402377.3	-	4	1106	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	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)|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)				AAGGTGTGAGGACTGGTTGAA	0.388																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(964-966)tCc>tTc		zinc finger protein 681							116	113	114					19																	23927387		2203	4300	6503	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927387G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.965C>T	19.37:g.23927387G>A	ENSP00000384000:p.Ser322Phe					ZNF681_ENST00000395385.3_Missense_Mutation_p.S253F	p.S322F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1106	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	322					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.965C>T	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263283	0.01445	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.16196	2.36;2.36	0.946	0.946	0.19549	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	M	0.66506	2.035	0.09310	N	1	B	0.25850	0.136	B	0.24394	0.053	T	0.26189	-1.0110	9	0.25106	T	0.35	.	4.1271	0.10133	0.0:0.0:0.5976:0.4023	.	322	Q96N22	ZN681_HUMAN	F	322;253	ENSP00000384000:S322F;ENSP00000378783:S253F	ENSP00000378783:S253F	S	-	2	0	ZNF681	23719227	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-6.620000	0.00059	0.798000	0.33994	0.313000	0.20887	TCC		0.388	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		58	301	0	0	0	1	0	58	301					A	23927387	G	A	23927387	3	1	79	1	0	0	0	0	1	0	0	0	18141	1174	41	2	976	2	ZNF681	19	23927387	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81452	23927387	35201596	18983	29300											
ZNF254	9534	broad.mit.edu	37	chr19	24289407	24289407	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaagggaaagagccctGgaatatgaagcgacatgaga	14	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24289407G>A	ENST00000357002.4	+	3	330	c.215G>A	c.(214-216)tGg>tAg	p.W72*	ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*	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	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)				AAAGAGCCCTGGAATATGAAG	0.423																																						ENST00000357002.4																			0											c.(214-216)tGg>tAg		zinc finger protein 254							130	140	137					19																	24289407		1511	2709	4220	SO:0001587	stop_gained	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24289407G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.215G>A	19.37:g.24289407G>A	ENSP00000349494:p.Trp72*					ZNF254_ENST00000339642.6_Nonsense_Mutation_p.W72*|ZNF254_ENST00000342944.6_Intron	p.W72*	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			3	330	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	72			KRAB.		A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	37	c.215G>A	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	8.196	0.796989	0.16327	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	72	.	ENSP00000341573:W72X	W	+	2	0	ZNF254	24081247	0.123000	0.22298	0.064000	0.19789	0.065000	0.16274	1.038000	0.30254	0.300000	0.22699	0.305000	0.20034	TGG		0.423	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		56	634	0	0	0	1	0	56	634					A	24289407	G	A	24289407	4	1	79	1	0	0	0	0	0	1	0	0	17851	1357	47	2	225	2	ZNF254	19	24289407	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	362020	24289407	34839576	18984	29301											
UQCRFS1	7386	broad.mit.edu	37	chr19	29698753	29698753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgggttctatgacgcAcaaacaggggtttgcctctc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:29698753A>G	ENST00000304863.4	-	2	949	c.527T>C	c.(526-528)gTg>gCg	p.V176A		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	176					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)			TCTATGACGCACAAACAGGGG	0.453																																						ENST00000304863.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(526-528)gTg>gCg		ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1							114	119	117					19																	29698753		2203	4300	6503	SO:0001583	missense	7386				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity	g.chr19:29698753A>G	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.527T>C	19.37:g.29698753A>G	ENSP00000306397:p.Val176Ala						p.V176A	NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	Lung(7;0.092)		2	949	-	Breast(6;0.0545)|Esophageal squamous(110;0.239)		176					A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	c.527T>C	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601290	0.66445	.	.	ENSG00000169021	ENST00000304863	T	0.58358	0.34	5.42	5.42	0.78866	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	H	0.97440	4.005	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.88316	0.2959	10	0.87932	D	0	.	14.6407	0.68723	1.0:0.0:0.0:0.0	.	176	P47985	UCRI_HUMAN	A	176	ENSP00000306397:V176A	ENSP00000306397:V176A	V	-	2	0	UQCRFS1	34390593	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	7.071000	0.76770	2.053000	0.61076	0.379000	0.24179	GTG		0.453	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003		102	599	0	0	0	1	0	102	599					G	29698753	A	G	29698753	3	3	79	1	0	0	0	0	1	0	0	0	17075	159	6	4	301	4	UQCRFS1	19	29698753	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5409346	29698753	29430230	18985	29302											
C19orf12	83636	broad.mit.edu	37	chr19	30193830	30193830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattaggatctgaggaaccGgcttaaactgtccacttgtc	9	11	1	1	rs201987973		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30193830G>A	ENST00000392278.2	-	3	374	c.248C>T	c.(247-249)cCg>cTg	p.P83L	C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L|C19orf12_ENST00000323670.9_Missense_Mutation_p.P72L|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	83			P -> L (in NBIA4; dbSNP:rs201987973). {ECO:0000269|PubMed:23269600}.		cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGAGGAACCGGCTTAAACTG	0.557																																						ENST00000323670.9																			0											c.(214-216)cCg>cTg		chromosome 19 open reading frame 12							92	92	92					19																	30193830		2203	4300	6503	SO:0001583	missense	83636					integral to membrane		g.chr19:30193830G>A	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 4"	614297	"spastic paraplegia 43 (autosomal recessive)"	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.248C>T	19.37:g.30193830G>A	ENSP00000376103:p.Pro83Leu					C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Missense_Mutation_p.P83L|C19orf12_ENST00000392276.1_Missense_Mutation_p.P8L|C19orf12_ENST00000592153.1_Missense_Mutation_p.P72L	p.P72L	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	354	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		72					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	37	c.215C>T	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173517	0.57584	.	.	ENSG00000131943	ENST00000323670;ENST00000392276;ENST00000392275;ENST00000392278;ENST00000342680	D;D;D	0.82433	-1.61;-1.61;-1.61	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.958;0.995	D	0.93199	0.6590	10	0.87932	D	0	-11.7687	17.7183	0.88344	0.0:0.0:1.0:0.0	.	72;83	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	L	72;8;8;83;72	ENSP00000313332:P72L;ENSP00000376102:P8L;ENSP00000376103:P83L	ENSP00000313332:P72L	P	-	2	0	C19orf12	34885670	1.000000	0.71417	0.911000	0.35937	0.422000	0.31414	9.057000	0.93889	2.435000	0.82474	0.591000	0.81541	CCG		0.557	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		109	602	0	0	0	1	0	109	602					A	30193830	G	A	30193830	3	1	79	1	0	0	0	0	1	0	0	0	1916	1116	39	1	214	1	C19orf12	19	30193830	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	495077	30193830	28935153	18986	29303											
C19orf12	83636	broad.mit.edu	37	chr19	30199248	30199248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccttcccagagtgcttgaCagccgccttcatcttcctct	6	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30199248C>T	ENST00000392278.2	-	2	232	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I|C19orf12_ENST00000323670.9_Missense_Mutation_p.V25I|C19orf12_ENST00000392275.1_Intron	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	36					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GAGTGCTTGACAGCCGCCTTC	0.617																																						ENST00000323670.9																			0											c.(73-75)Gtc>Atc		chromosome 19 open reading frame 12							66	68	67					19																	30199248		1947	4139	6086	SO:0001583	missense	83636					integral to membrane		g.chr19:30199248C>T	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 4"	614297	"spastic paraplegia 43 (autosomal recessive)"	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.106G>A	19.37:g.30199248C>T	ENSP00000376103:p.Val36Ile					C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392278.2_Missense_Mutation_p.V36I|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000592153.1_Missense_Mutation_p.V25I	p.V25I	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		2	212	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		25					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	37	c.73G>A	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	C	8.231	0.804629	0.16467	.	.	ENSG00000131943	ENST00000323670;ENST00000392278;ENST00000342680	D;D;D	0.82255	-1.59;-1.59;-1.59	6.08	-0.232	0.13082	.	0.360249	0.28398	N	0.015489	T	0.66208	0.2766	L	0.28274	0.84	0.37127	D	0.901079	B;B	0.18863	0.011;0.031	B;B	0.18871	0.016;0.023	T	0.51458	-0.8703	10	0.19147	T	0.46	-25.3389	6.3088	0.21153	0.12:0.5333:0.0:0.3467	.	25;36	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	I	25;36;25	ENSP00000313332:V25I;ENSP00000376103:V36I;ENSP00000345497:V25I	ENSP00000313332:V25I	V	-	1	0	C19orf12	34891088	0.001000	0.12720	0.307000	0.25127	0.060000	0.15804	-0.075000	0.11431	0.163000	0.19507	0.591000	0.81541	GTC		0.617	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		100	366	0	0	0	1	0	100	366					T	30199248	C	T	30199248	3	4	79	1	0	0	0	0	1	0	0	0	1916	478	17	2	360	2	C19orf12	19	30199248	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5418	30199248	28929735	18987	29304											
CCNE1	898	broad.mit.edu	37	chr19	30312955	30312955	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctggctgaatgtatAcatgcaggttgcatatctaa	10	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30312955A>G	ENST00000262643.3	+	9	1037	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C|CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	253					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)			CTGAATGTATACATGCAGGTT	0.433			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(757-759)tAc>tGc		cyclin E1							180	174	176					19																	30312955		2203	4300	6503	SO:0001583	missense	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30312955A>G	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.758A>G	19.37:g.30312955A>G	ENSP00000262643:p.Tyr253Cys					CCNE1_ENST00000357943.5_Missense_Mutation_p.Y210C|CCNE1_ENST00000444983.2_Missense_Mutation_p.Y238C	p.Y253C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	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)		9	1037	+	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)		253					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Missense_Mutation	SNP	ENST00000262643.3	37	c.758A>G	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129424	0.77549	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	T;T;T	0.23950	1.88;1.88;1.88	6.08	6.08	0.98989	Cyclin, C-terminal (1);Cyclin-like (1);	0.051716	0.85682	D	0.000000	T	0.52821	0.1758	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58814	-0.7570	10	0.87932	D	0	.	10.985	0.47516	0.8609:0.0:0.0:0.1391	.	253	P24864	CCNE1_HUMAN	C	253;210;238	ENSP00000262643:Y253C;ENSP00000350625:Y210C;ENSP00000410179:Y238C	ENSP00000262643:Y253C	Y	+	2	0	CCNE1	35004795	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.330000	0.79181	2.333000	0.79357	0.482000	0.46254	TAC		0.433	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		167	682	0	0	0	1	0	167	682					G	30312955	A	G	30312955	3	3	79	1	0	0	0	0	1	0	0	0	2929	391	14	4	788	4	CCNE1	19	30312955	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	113707	30312955	28816028	18988	29305											
CCNE1	898	broad.mit.edu	37	chr19	30313164	30313164	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagctgttggatctctgtgtCctggatgttgactgccttga	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313164C>A	ENST00000262643.3	+	10	1137	c.858C>A	c.(856-858)gtC>gtA	p.V286V	CCNE1_ENST00000357943.5_Silent_p.V243V|CCNE1_ENST00000444983.2_Silent_p.V271V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	286					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)			ATCTCTGTGTCCTGGATGTTG	0.473			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(856-858)gtC>gtA		cyclin E1							332	266	288					19																	30313164		2203	4300	6503	SO:0001819	synonymous_variant	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313164C>A	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.858C>A	19.37:g.30313164C>A						CCNE1_ENST00000357943.5_Silent_p.V243V|CCNE1_ENST00000444983.2_Silent_p.V271V	p.V286V	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	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)		10	1137	+	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)		286					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	37	c.858C>A	CCDS12419.1																																																																																				0.473	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		144	628	1	0	1.46275e-61	1	1.84202e-61	144	628					A	30313164	C	A	30313164	2	1	79	1	0	0	0	0	0	0	0	1	2929	842	30	3		3	CCNE1	19	30313164	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	209	30313164	28815819	18989	29306											
CCNE1	898	broad.mit.edu	37	chr19	30313366	30313366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcagggtatcagtggtgCgacatagagaactgtgtcaa	13	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313366C>T	ENST00000262643.3	+	11	1245	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_ENST00000357943.5_Silent_p.C279C|CCNE1_ENST00000444983.2_Silent_p.C307C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	322					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)			ATCAGTGGTGCGACATAGAGA	0.498			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(964-966)tgC>tgT		cyclin E1							174	145	155					19																	30313366		2203	4300	6503	SO:0001819	synonymous_variant	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30313366C>T	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.966C>T	19.37:g.30313366C>T						CCNE1_ENST00000357943.5_Silent_p.C279C|CCNE1_ENST00000444983.2_Silent_p.C307C	p.C322C	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	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)		11	1245	+	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)		322					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Silent	SNP	ENST00000262643.3	37	c.966C>T	CCDS12419.1																																																																																				0.498	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		117	500	0	0	0	1	0	117	500					T	30313366	C	T	30313366	2	4	79	1	0	0	0	0	0	0	0	1	2929	776	27	1		1	CCNE1	19	30313366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	30313366	28815617	18990	29307											
C19orf2	8725	broad.mit.edu	37	chr19	30503346	30503346	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaggagtatcagctgcgaaGaagccacttgcagtgacacc	12	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30503346G>T	ENST00000542441.2	+	10	1630	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	URI1_ENST00000360605.4_Nonsense_Mutation_p.E427*|URI1_ENST00000392271.1_Nonsense_Mutation_p.E369*|URI1_ENST00000312051.6_Nonsense_Mutation_p.E405*			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	445					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)										CAGCTGCGAAGAAGCCACTTG	0.453																																						ENST00000392271.1																			0											c.(1105-1107)Gaa>Taa		URI1, prefoldin-like chaperone							98	94	95					19																	30503346		2203	4300	6503	SO:0001587	stop_gained	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30503346G>T	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.1333G>T	19.37:g.30503346G>T	ENSP00000442436:p.Glu445*					URI1_ENST00000312051.6_Nonsense_Mutation_p.E405*|URI1_ENST00000360605.4_Nonsense_Mutation_p.E427*|URI1_ENST00000542441.2_Nonsense_Mutation_p.E445*	p.E369*	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			10	1630	+			445					A8K805|H7BY42|Q8TC23|Q9UNU3	Nonsense_Mutation	SNP	ENST00000542441.2	37	c.1105G>T	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	38	6.791179	0.97841	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	.	.	.	5.64	5.64	0.86602	.	0.144174	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.4912	19.7088	0.96084	0.0:0.0:1.0:0.0	.	.	.	.	X	443;369;445;405	.	ENSP00000312530:E405X	E	+	1	0	C19orf2	35195186	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	9.158000	0.94723	2.663000	0.90544	0.585000	0.79938	GAA		0.453	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		76	336	1	0	2.49587e-40	1	3.02561e-40	76	336					T	30503346	G	T	30503346	4	4	79	1	0	0	0	0	0	1	0	0	1918	943	33	3	1371	3	C19orf2	19	30503346	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189980	30503346	28625637	18991	29308											
ZNF536	9745	broad.mit.edu	37	chr19	30934897	30934897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagcgcttccgcttcaacaGcatcctctccctgcacatgc	6	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30934897G>A	ENST00000355537.3	+	2	575	c.428G>A	c.(427-429)aGc>aAc	p.S143N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	143					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)					CGCTTCAACAGCATCCTCTCC	0.622																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(427-429)aGc>aAc		zinc finger protein 536							64	54	57					19																	30934897		2202	4300	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934897G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.428G>A	19.37:g.30934897G>A	ENSP00000347730:p.Ser143Asn						p.S143N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	575	+	Esophageal squamous(110;0.0834)		143					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.428G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991212	0.74703	.	.	ENSG00000198597	ENST00000355537	T	0.07567	3.18	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.040714	0.85682	N	0.000000	T	0.21761	0.0524	L	0.32530	0.975	0.54753	D	0.999986	D;D	0.69078	0.996;0.997	D;D	0.79784	0.951;0.993	T	0.00579	-1.1661	10	0.66056	D	0.02	-34.9913	19.4466	0.94849	0.0:0.0:1.0:0.0	.	143;143	A7E228;O15090	.;ZN536_HUMAN	N	143	ENSP00000347730:S143N	ENSP00000347730:S143N	S	+	2	0	ZNF536	35626737	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.860000	0.99555	2.609000	0.88269	0.462000	0.41574	AGC		0.622	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		68	285	0	0	0	1	0	68	285					A	30934897	G	A	30934897	3	1	79	1	0	0	0	0	1	0	0	0	18027	971	34	2	430	2	ZNF536	19	30934897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	431551	30934897	28194086	18992	29309											
ZNF536	9745	broad.mit.edu	37	chr19	30935229	30935229	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcccgacgtggcccacCcggtgccctcgcccaagcct	11	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935229C>T	ENST00000355537.3	+	2	907	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	254					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)					CGTGGCCCACCCGGTGCCCTC	0.736																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(760-762)Ccg>Tcg		zinc finger protein 536							5	7	6					19																	30935229		1995	3958	5953	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935229C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.760C>T	19.37:g.30935229C>T	ENSP00000347730:p.Pro254Ser						p.P254S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	907	+	Esophageal squamous(110;0.0834)		254					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.760C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960870	0.18583	.	.	ENSG00000198597	ENST00000355537	T	0.09073	3.02	5.7	5.7	0.88788	.	0.051124	0.85682	D	0.000000	T	0.08802	0.0218	L	0.32530	0.975	0.45979	D	0.998794	P;P	0.48294	0.666;0.908	B;P	0.46585	0.162;0.521	T	0.11036	-1.0604	10	0.05959	T	0.93	-30.3078	14.6357	0.68689	0.1456:0.8544:0.0:0.0	.	254;254	A7E228;O15090	.;ZN536_HUMAN	S	254	ENSP00000347730:P254S	ENSP00000347730:P254S	P	+	1	0	ZNF536	35627069	1.000000	0.71417	0.958000	0.39756	0.891000	0.51852	1.929000	0.40114	2.702000	0.92279	0.491000	0.48974	CCG		0.736	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		26	98	0	0	0	1	0	26	98					T	30935229	C	T	30935229	3	4	79	1	0	0	0	0	1	0	0	0	18027	623	22	2	762	2	ZNF536	19	30935229	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332	30935229	28193754	18993	29310											
ZNF536	9745	broad.mit.edu	37	chr19	30935664	30935664	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtccacctcaacaagCtgtcggtgaagaacaagtcc	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935664C>A	ENST00000355537.3	+	2	1342	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	399					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)					CCTCAACAAGCTGTCGGTGAA	0.607																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1195-1197)Ctg>Atg		zinc finger protein 536							57	59	58					19																	30935664		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935664C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1195C>A	19.37:g.30935664C>A	ENSP00000347730:p.Leu399Met						p.L399M	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1342	+	Esophageal squamous(110;0.0834)		399					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1195C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655879	0.29425	.	.	ENSG00000198597	ENST00000355537	T	0.09817	2.94	5.44	5.44	0.79542	Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.48642	1.525	0.39902	D	0.973911	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00651	-1.1626	10	0.56958	D	0.05	-19.9523	10.4163	0.44325	0.0:0.8797:0.0:0.1203	.	399;399	A7E228;O15090	.;ZN536_HUMAN	M	399	ENSP00000347730:L399M	ENSP00000347730:L399M	L	+	1	2	ZNF536	35627504	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.184000	0.50926	2.535000	0.85469	0.591000	0.81541	CTG		0.607	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		90	372	1	0	3.6518e-20	1	4.08764e-20	90	372					A	30935664	C	A	30935664	3	1	79	1	0	0	0	0	1	0	0	0	18027	796	28	3	1197	3	ZNF536	19	30935664	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435	30935664	28193319	18994	29311											
ZNF536	9745	broad.mit.edu	37	chr19	31040060	31040060	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaagggggagaacaaCgatgaagaggatgttgaaac	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31040060C>T	ENST00000355537.3	+	4	3681	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1178					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)					GGGAGAACAACGATGAAGAGG	0.552																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3532-3534)aaC>aaT		zinc finger protein 536							71	72	72					19																	31040060		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040060C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3534C>T	19.37:g.31040060C>T							p.N1178N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3681	+	Esophageal squamous(110;0.0834)		1178					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3534C>T	CCDS32984.1																																																																																				0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		81	316	0	0	0	1	0	81	316					T	31040060	C	T	31040060	2	4	79	1	0	0	0	0	0	0	0	1	18027	535	19	1		1	ZNF536	19	31040060	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104396	31040060	28088923	18995	29312											
TSHZ3	57616	broad.mit.edu	37	chr19	31767496	31767496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacagaaggtggtcttccGgagatttcccgtgtgttttg	12	8	1	2	rs541898039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31767496G>A	ENST00000240587.4	-	2	3530	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1068					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.P885L(1)|p.P1068L(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)					GTGGTCTTCCGGAGATTTCCC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20666	0.0		0.0	False		,,,				2504	0.0					ENST00000240587.4																			2	Substitution - Missense(2)	p.P885L(1)|p.P1068L(1)	endometrium(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(3202-3204)cCg>cTg		teashirt zinc finger homeobox 3							151	145	147					19																	31767496		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767496G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3203C>T	19.37:g.31767496G>A	ENSP00000240587:p.Pro1068Leu						p.P1068L	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3530	-	Esophageal squamous(110;0.226)		1068					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.3203C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133706	0.56828	.	.	ENSG00000121297	ENST00000240587	T	0.41400	1.0	5.93	5.93	0.95920	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.68952	2.095	0.80722	D	1	P	0.47253	0.892	B	0.35240	0.198	T	0.54022	-0.8355	10	0.87932	D	0	-8.4718	20.3507	0.98813	0.0:0.0:1.0:0.0	.	1068	Q63HK5	TSH3_HUMAN	L	1068	ENSP00000240587:P1068L	ENSP00000240587:P1068L	P	-	2	0	TSHZ3	36459336	1.000000	0.71417	0.097000	0.21041	0.715000	0.41141	9.441000	0.97557	2.808000	0.96608	0.655000	0.94253	CCG		0.468	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		77	301	0	0	0	1	0	77	301					A	31767496	G	A	31767496	3	1	79	1	0	0	0	0	1	0	0	0	16678	1116	39	1	46	1	TSHZ3	19	31767496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	727436	31767496	27361487	18996	29313											
TSHZ3	57616	broad.mit.edu	37	chr19	31768179	31768179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatctgacaaggcattctcGcgtagcggcgagtttgacat	11	9	2	2	rs373110206		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31768179G>A	ENST00000240587.4	-	2	2847	c.2520C>T	c.(2518-2520)cgC>cgT	p.R840R		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	840					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)					AGGCATTCTCGCGTAGCGGCG	0.522																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2518-2520)cgC>cgT		teashirt zinc finger homeobox 3		G		0,4406		0,0,2203	147	139	142		2520	-1.6	1	19		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TSHZ3	NM_020856.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		840/1082	31768179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768179G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2520C>T	19.37:g.31768179G>A							p.R840R	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2847	-	Esophageal squamous(110;0.226)		840					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2520C>T	CCDS12421.2																																																																																				0.522	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		148	522	0	0	0	1	0	148	522					A	31768179	G	A	31768179	2	1	79	1	0	0	0	0	0	0	0	1	16678	1074	38	1		1	TSHZ3	19	31768179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	683	31768179	27360804	18997	29314											
TSHZ3	57616	broad.mit.edu	37	chr19	31770107	31770107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagagcttgctgctctgccGgtacagctgcacggtgctga	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31770107G>A	ENST00000240587.4	-	2	919	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	198					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)					CTGCTCTGCCGGTACAGCTGC	0.627																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(592-594)Cgg>Tgg		teashirt zinc finger homeobox 3							58	55	56					19																	31770107		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770107G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.592C>T	19.37:g.31770107G>A	ENSP00000240587:p.Arg198Trp						p.R198W	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	919	-	Esophageal squamous(110;0.226)		198					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.592C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306921	0.60305	.	.	ENSG00000121297	ENST00000240587	T	0.19105	2.17	5.42	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.72479	2.2	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.44498	-0.9324	10	0.87932	D	0	-21.9214	12.0876	0.53706	0.0:0.0:0.4553:0.5447	.	198	Q63HK5	TSH3_HUMAN	W	198	ENSP00000240587:R198W	ENSP00000240587:R198W	R	-	1	2	TSHZ3	36461947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.263000	0.51546	1.217000	0.43442	0.655000	0.94253	CGG		0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		88	353	0	0	0	1	0	88	353					A	31770107	G	A	31770107	3	1	79	1	0	0	0	0	1	0	0	0	16678	1115	39	1	2657	1	TSHZ3	19	31770107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1928	31770107	27358876	18998	29315											
DPY19L3	147991	broad.mit.edu	37	chr19	32954831	32954831	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcattcggcctatgtaGccctgaaatatgggagttac	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32954831G>A	ENST00000342179.5	+	14	1717	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	501						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)					GGCCTATGTAGCCCTGAAATA	0.438																																						ENST00000342179.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32						c.(1501-1503)aGc>aAc		dpy-19-like 3 (C. elegans)							247	220	230					19																	32954831		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32954831G>A		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.1502G>A	19.37:g.32954831G>A	ENSP00000344937:p.Ser501Asn					DPY19L3_ENST00000586987.1_Missense_Mutation_p.S501N|DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.S501N	p.S501N	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN			14	1717	+	Esophageal squamous(110;0.162)		501					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1502G>A	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905790	0.72868	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.61980	0.06;0.06	4.93	4.93	0.64822	.	0.101993	0.64402	D	0.000001	T	0.67192	0.2867	M	0.67569	2.06	0.41464	D	0.988064	B	0.32324	0.364	B	0.38106	0.265	T	0.71741	-0.4501	10	0.72032	D	0.01	-17.6341	18.1687	0.89737	0.0:0.0:1.0:0.0	.	501	Q6ZPD9	D19L3_HUMAN	N	501	ENSP00000376081:S501N;ENSP00000344937:S501N	ENSP00000315672:S501N	S	+	2	0	DPY19L3	37646671	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	8.503000	0.90509	2.284000	0.76573	0.557000	0.71058	AGC		0.438	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		148	660	0	0	0	1	0	148	660					A	32954831	G	A	32954831	3	1	79	1	0	0	0	0	1	0	0	0	4758	971	34	2	1552	2	DPY19L3	19	32954831	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1184724	32954831	26174152	18999	29316											
DPY19L3	147991	broad.mit.edu	37	chr19	32971376	32971376	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccttcggcactgactaCgtaatcctggaagacagcat	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32971376C>T	ENST00000342179.5	+	18	2117	c.1902C>T	c.(1900-1902)taC>taT	p.Y634Y	DPY19L3_ENST00000586987.1_Silent_p.Y634Y|DPY19L3_ENST00000392250.2_Silent_p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	634						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)					GCACTGACTACGTAATCCTGG	0.552																																						ENST00000342179.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32						c.(1900-1902)taC>taT		dpy-19-like 3 (C. elegans)							67	63	64					19																	32971376		2203	4300	6503	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32971376C>T		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.1902C>T	19.37:g.32971376C>T						DPY19L3_ENST00000586987.1_Silent_p.Y634Y|DPY19L3_ENST00000392250.2_Silent_p.Y634Y	p.Y634Y	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN			18	2117	+	Esophageal squamous(110;0.162)		634					Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.1902C>T	CCDS12422.1																																																																																				0.552	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		9	284	0	0	0	1	0	9	284					T	32971376	C	T	32971376	2	4	79	1	0	0	0	0	0	0	0	1	4758	547	19	1		1	DPY19L3	19	32971376	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16545	32971376	26157607	19000	29317											
PDCD5	9141	broad.mit.edu	37	chr19	33076792	33076792	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	taccttatacagatggcaagAtatggacaactaagtgagaa	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	ENST00000590247.2	+	4	431	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000419343.3_Missense_Mutation_p.R79S|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	79					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGATGGCAAGATATGGACAAC	0.348																																						ENST00000590247.1																			0				breast(1)|large_intestine(2)|lung(1)|ovary(1)	5						c.(235-237)agA>agT		programmed cell death 5							106	112	110					19																	33076792		2203	4300	6503	SO:0001583	missense	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33076792A>T	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"TFAR19 novel apoptosis-related", "TF1 cell apoptosis-related gene 19"	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.237A>T	19.37:g.33076792A>T	ENSP00000466214:p.Arg79Ser					PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.R41S	p.R79S	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN			4	431	+	Esophageal squamous(110;0.137)		79					B4DE64|Q53YC9|Q6IB70	Missense_Mutation	SNP	ENST00000590247.2	37	c.237A>T	CCDS12423.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246699	0.59103	.	.	ENSG00000105185	ENST00000419343;ENST00000221784	.	.	.	5.6	0.88	0.19161	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.46157	1.445	0.80722	D	1	P;B	0.37573	0.6;0.083	B;B	0.42625	0.393;0.137	T	0.22034	-1.0228	9	0.56958	D	0.05	-9.985	4.5168	0.11939	0.6197:0.0:0.2468:0.1334	.	79;79	O14737;B4DE64	PDCD5_HUMAN;.	S	79	.	ENSP00000221784:R79S	R	+	3	2	PDCD5	37768632	1.000000	0.71417	0.989000	0.46669	0.935000	0.57460	0.724000	0.25954	-0.187000	0.10516	0.460000	0.39030	AGA		0.348	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2	NM_004708		72	303	0	0	0	1	0	72	303					T	33076792	A	T	33076792	3	4	79	1	0	0	0	0	1	0	0	0	11664	330	12	5	251	5	PDCD5	19	33076792	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	105416	33076792	26052191	19001	29318											
RGS9BP	388531	broad.mit.edu	37	chr19	33167833	33167833	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttttcggcgccgtgctgCtggcggctgtggccctagcc	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33167833C>T	ENST00000334176.3	+	1	1521	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	222					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CGCCGTGCTGCTGGCGGCTGT	0.721																																						ENST00000334176.3																			0				central_nervous_system(1)|lung(2)	3						c.(664-666)Ctg>Ttg		regulator of G protein signaling 9 binding protein							7	10	9					19																	33167833		1756	3593	5349	SO:0001819	synonymous_variant	388531				negative regulation of signal transduction	integral to membrane		g.chr19:33167833C>T	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.664C>T	19.37:g.33167833C>T							p.L222L	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN			1	1521	+	Esophageal squamous(110;0.137)		222					Q6ZVJ6	Silent	SNP	ENST00000334176.3	37	c.664C>T	CCDS12424.1																																																																																				0.721	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391		22	105	0	0	0	1	0	22	105					T	33167833	C	T	33167833	2	4	79	1	0	0	0	0	0	0	0	1	13364	796	28	2		2	RGS9BP	19	33167833	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91041	33167833	25961150	19002	29319											
NUDT19	390916	broad.mit.edu	37	chr19	33183175	33183175	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccgcaccgctttcccgtcGctgcccgacaccgatgacca	9	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33183175G>A	ENST00000397061.3	+	1	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	103	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CTTTCCCGTCGCTGCCCGACA	0.721																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(307-309)tcG>tcA		nudix (nucleoside diphosphate linked moiety X)-type motif 19							20	24	23					19																	33183175		2101	4210	6311	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183175G>A		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.309G>A	19.37:g.33183175G>A							p.S103S	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			1	309	+	Esophageal squamous(110;0.137)		103			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.309G>A	CCDS42543.1																																																																																				0.721	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		56	237	0	0	0	1	0	56	237					A	33183175	G	A	33183175	2	1	79	1	0	0	0	0	0	0	0	1	10778	1074	38	1		1	NUDT19	19	33183175	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15342	33183175	25945808	19003	29320											
NUDT19	390916	broad.mit.edu	37	chr19	33200284	33200284	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaactgctgatgggatggTccatcttttaccaggtaaac	10	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33200284T>C	ENST00000397061.3	+	2	908	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	303						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GATGGGATGGTCCATCTTTTA	0.473																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(907-909)gTc>gCc		nudix (nucleoside diphosphate linked moiety X)-type motif 19							135	122	126					19																	33200284		1967	4149	6116	SO:0001583	missense	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200284T>C		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.908T>C	19.37:g.33200284T>C	ENSP00000380251:p.Val303Ala						p.V303A	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	908	+	Esophageal squamous(110;0.137)		303						Missense_Mutation	SNP	ENST00000397061.3	37	c.908T>C	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543265	0.45280	.	.	ENSG00000213965	ENST00000397061	T	0.50548	0.74	4.77	4.77	0.60923	.	0.318283	0.26567	U	0.023647	T	0.40956	0.1138	L	0.49778	1.585	0.21290	N	0.999736	B	0.29716	0.255	B	0.27262	0.078	T	0.38308	-0.9667	10	0.46703	T	0.11	-16.3334	10.961	0.47385	0.0:0.0:0.0:1.0	.	303	A8MXV4	NUD19_HUMAN	A	303	ENSP00000380251:V303A	ENSP00000380251:V303A	V	+	2	0	NUDT19	37892124	0.088000	0.21588	0.036000	0.18154	0.087000	0.18053	4.148000	0.58085	1.891000	0.54761	0.482000	0.46254	GTC		0.473	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		71	374	0	0	0	1	0	71	374					C	33200284	T	C	33200284	3	2	79	1	0	0	0	0	1	0	0	0	10778	1667	58	4	914	4	NUDT19	19	33200284	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	17109	33200284	25928699	19004	29321											
NUDT19	390916	broad.mit.edu	37	chr19	33202821	33202821	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagccaaagtataaacaCgtttatcctaagaactctgt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33202821C>T	ENST00000397061.3	+	3	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	362						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGTATAAACACGTTTATCCTA	0.408																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(1084-1086)caC>caT		nudix (nucleoside diphosphate linked moiety X)-type motif 19							146	139	142					19																	33202821		1906	4125	6031	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33202821C>T		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.1086C>T	19.37:g.33202821C>T							p.H362H	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			3	1086	+	Esophageal squamous(110;0.137)		362						Silent	SNP	ENST00000397061.3	37	c.1086C>T	CCDS42543.1																																																																																				0.408	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		111	591	0	0	0	1	0	111	591					T	33202821	C	T	33202821	2	4	79	1	0	0	0	0	0	0	0	1	10778	535	19	1		1	NUDT19	19	33202821	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2537	33202821	25926162	19005	29322											
SLC7A9	11136	broad.mit.edu	37	chr19	33355586	33355586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgaggcagggccccaCagcttccgtgttgctgagca	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355586C>T	ENST00000023064.4	-	3	375	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M|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	62					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)	CAGGGCCCCACAGCTTCCGTG	0.617																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	GRCh37	CM050099	SLC7A9	M		c.(184-186)Gtg>Atg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						125	117	120					19																	33355586		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355586C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.184G>A	19.37:g.33355586C>T	ENSP00000023064:p.Val62Met					SLC7A9_ENST00000590341.1_Missense_Mutation_p.V62M|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V62M	p.V62M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	375	-	Esophageal squamous(110;0.137)		62					B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.184G>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196535	0.79015	.	.	ENSG00000021488	ENST00000023064	D	0.90504	-2.68	5.13	5.13	0.70059	Amino acid permease domain (1);	0.055402	0.64402	D	0.000001	D	0.96024	0.8705	H	0.94264	3.515	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.96517	0.9383	10	0.72032	D	0.01	.	12.3425	0.55101	0.0:0.922:0.0:0.078	.	62	P82251	BAT1_HUMAN	M	62	ENSP00000023064:V62M	ENSP00000023064:V62M	V	-	1	0	SLC7A9	38047426	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.091000	0.71406	2.565000	0.86533	0.462000	0.41574	GTG		0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			144	645	0	0	0	1	0	144	645					T	33355586	C	T	33355586	3	4	79	1	0	0	0	0	1	0	0	0	14755	478	17	2	1323	2	SLC7A9	19	33355586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152765	33355586	25773397	19006	29323											
SLC7A9	11136	broad.mit.edu	37	chr19	33355629	33355629	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttgggggaaacgaagatCccagagccaatgatggtgcc	14	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355629C>T	ENST00000023064.4	-	3	332	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC7A9_ENST00000590341.1_Silent_p.G47G|SLC7A9_ENST00000587772.1_Silent_p.G47G|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	47					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)	AAACGAAGATCCCAGAGCCAA	0.617																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(139-141)ggG>ggA		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						170	155	160					19																	33355629		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355629C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.141G>A	19.37:g.33355629C>T						SLC7A9_ENST00000590341.1_Silent_p.G47G|SLC7A9_ENST00000587772.1_Silent_p.G47G	p.G47G	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			3	332	-	Esophageal squamous(110;0.137)		47					B2R9A6	Silent	SNP	ENST00000023064.4	37	c.141G>A	CCDS12425.1																																																																																				0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			169	779	0	0	0	1	0	169	779					T	33355629	C	T	33355629	2	4	79	1	0	0	0	0	0	0	0	1	14755	842	30	2		2	SLC7A9	19	33355629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43	33355629	25773354	19007	29324											
CCDC123	84902	broad.mit.edu	37	chr19	33370081	33370081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagattctagcaggtggggGcatgagacttcaggtcatag	15	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33370081G>A	ENST00000305768.5	-	19	2427	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	780					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCAGGTGGGGGCATGAGACTT	0.627																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(2338-2340)gCc>gTc		centrosomal protein 89kDa							69	65	66					19																	33370081		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33370081G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2339C>T	19.37:g.33370081G>A	ENSP00000306105:p.Ala780Val						p.A780V	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			19	2427	-			780					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.2339C>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632411	0.46944	.	.	ENSG00000121289	ENST00000305768	T	0.34275	1.37	4.75	3.71	0.42584	.	0.119066	0.37577	N	0.002028	T	0.30166	0.0756	L	0.44542	1.39	0.25202	N	0.99004	B	0.14012	0.009	B	0.10450	0.005	T	0.27468	-1.0073	10	0.62326	D	0.03	0.0729	10.3175	0.43745	0.0948:0.0:0.9052:0.0	.	780	Q96ST8	CEP89_HUMAN	V	780	ENSP00000306105:A780V	ENSP00000306105:A780V	A	-	2	0	CEP89	38061921	0.104000	0.21937	0.001000	0.08648	0.003000	0.03518	3.337000	0.52120	1.132000	0.42129	0.462000	0.41574	GCC		0.627	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		13	455	0	0	0	1	0	13	455					A	33370081	G	A	33370081	3	1	79	1	0	0	0	0	1	0	0	0	2766	1203	42	2	16	2	CCDC123	19	33370081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14452	33370081	25758902	19008	29325											
CCDC123	84902	broad.mit.edu	37	chr19	33444582	33444582	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgtcctcccgggcaCtgacatcccccaattccttg	6	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33444582C>A	ENST00000305768.5	-	4	519	c.431G>T	c.(430-432)aGt>aTt	p.S144I	CEP89_ENST00000590597.2_Missense_Mutation_p.S144I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	144					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCCCGGGCACTGACATCCCC	0.498																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(430-432)aGt>aTt		centrosomal protein 89kDa							344	357	352					19																	33444582		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33444582C>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.431G>T	19.37:g.33444582C>A	ENSP00000306105:p.Ser144Ile					CEP89_ENST00000590597.1_Missense_Mutation_p.S144I	p.S144I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	519	-			144					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.431G>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047520	0.36085	.	.	ENSG00000121289	ENST00000305768	T	0.31769	1.48	4.61	2.35	0.29111	.	1.440660	0.03939	N	0.286619	T	0.53546	0.1803	M	0.67953	2.075	0.09310	N	1	D;P;P	0.67145	0.996;0.911;0.813	D;P;B	0.65010	0.931;0.653;0.348	T	0.22277	-1.0221	10	0.56958	D	0.05	0.9008	9.8065	0.40797	0.3738:0.6262:0.0:0.0	.	115;144;144	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	I	144	ENSP00000306105:S144I	ENSP00000306105:S144I	S	-	2	0	CEP89	38136422	0.009000	0.17119	0.000000	0.03702	0.033000	0.12548	1.234000	0.32660	0.420000	0.25954	0.591000	0.81541	AGT		0.498	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		114	1130	1	0	1.62263e-30	1	1.90432e-30	114	1130					A	33444582	C	A	33444582	3	1	79	1	0	0	0	0	1	0	0	0	2766	565	20	3	1984	3	CCDC123	19	33444582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	74501	33444582	25684401	19009	29326											
CCDC123	84902	broad.mit.edu	37	chr19	33450866	33450866	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcctgttcaacactgCtcacatcactctcagaccgg	7	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33450866C>A	ENST00000305768.5	-	3	333	c.245G>T	c.(244-246)aGc>aTc	p.S82I	CEP89_ENST00000590597.2_Missense_Mutation_p.S82I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	82					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTCAACACTGCTCACATCACT	0.587																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(244-246)aGc>aTc		centrosomal protein 89kDa							138	112	121					19																	33450866		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33450866C>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.245G>T	19.37:g.33450866C>A	ENSP00000306105:p.Ser82Ile					CEP89_ENST00000590597.1_Missense_Mutation_p.S82I	p.S82I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			3	333	-			82					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.245G>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110321	0.08780	.	.	ENSG00000121289	ENST00000305768	T	0.33438	1.41	5.48	-0.632	0.11523	.	0.450229	0.24359	N	0.039210	T	0.15132	0.0365	N	0.16656	0.425	0.09310	N	1	B;B	0.13145	0.001;0.007	B;B	0.11329	0.003;0.006	T	0.13629	-1.0502	10	0.51188	T	0.08	-1.0987	5.9943	0.19485	0.2923:0.2354:0.4723:0.0	.	82;82	Q96ST8-3;Q96ST8	.;CEP89_HUMAN	I	82	ENSP00000306105:S82I	ENSP00000306105:S82I	S	-	2	0	CEP89	38142706	0.083000	0.21467	0.000000	0.03702	0.002000	0.02628	1.009000	0.29886	-0.007000	0.14345	-0.165000	0.13383	AGC		0.587	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		30	172	1	0	7.26314e-15	1	7.90818e-15	30	172					A	33450866	C	A	33450866	3	1	79	1	0	0	0	0	1	0	0	0	2766	797	28	3	2174	3	CCDC123	19	33450866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6284	33450866	25678117	19010	29327											
C19orf40	91442	broad.mit.edu	37	chr19	33464384	33464384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaccagacttttatctgtcGaacagatgctgcattcttta	6	10	2	2	rs146261594		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33464384G>A	ENST00000588258.1	+	3	269	c.159G>A	c.(157-159)tcG>tcA	p.S53S	C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_Intron|CEP89_ENST00000591863.1_5'Flank|C19orf40_ENST00000590281.1_Silent_p.S53S|CEP89_ENST00000590597.2_5'Flank|CEP89_ENST00000305768.5_5'Flank	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	53					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TTTATCTGTCGAACAGATGCT	0.403								Direct reversal of damage																														ENST00000588258.1																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(157-159)tcG>tcA	Direct reversal of damage	chromosome 19 open reading frame 40		G		0,4406		0,0,2203	164	154	157		159	-9.8	0	19	dbSNP_134	157	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	C19orf40	NM_152266.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		53/216	33464384	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	91442				DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding	g.chr19:33464384G>A	AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 24kDa"	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.159G>A	19.37:g.33464384G>A						C19orf40_ENST00000590179.1_Intron|C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590281.1_Silent_p.S53S	p.S53S	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN			3	269	+	Esophageal squamous(110;0.137)		53					B3KY46|Q8WUJ7|Q96FX6	Silent	SNP	ENST00000588258.1	37	c.159G>A	CCDS12426.1																																																																																				0.403	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266		22	825	0	0	0	1	0	22	825					A	33464384	G	A	33464384	2	1	79	1	0	0	0	0	0	0	0	1	1930	1045	37	1		1	C19orf40	19	33464384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13518	33464384	25664599	19011	29328											
RHPN2	85415	broad.mit.edu	37	chr19	33486990	33486990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctggtgctgggcGtacgtgagccgggagcgttc	15	13	0	1	rs142685730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33486990G>A	ENST00000254260.3	-	11	1397	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_ENST00000400226.4_Silent_p.Y303Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	454	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17949	0.0		0.0	False		,,,				2504	0.0					ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.(1360-1362)taC>taT		rhophilin, Rho GTPase binding protein 2		G		1,4405	2.1+/-5.4	0,1,2202	83	66	72		1362	0.3	0.2	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		454/687	33486990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33486990G>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1362C>T	19.37:g.33486990G>A						RHPN2_ENST00000400226.4_Silent_p.Y303Y	p.Y454Y	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			11	1397	-	Esophageal squamous(110;0.137)		454			BRO1.		B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	ENST00000254260.3	37	c.1362C>T	CCDS12427.1																																																																																				0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103		68	355	0	0	0	1	0	68	355					A	33486990	G	A	33486990	2	1	79	1	0	0	0	0	0	0	0	1	13401	1140	40	1		1	RHPN2	19	33486990	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22606	33486990	25641993	19012	29329											
GPATCH1	55094	broad.mit.edu	37	chr19	33588747	33588747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgacactgttctgaaggaCgaggagcctggagacggact	14	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33588747C>T	ENST00000170564.2	+	8	1253	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	313					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)					TTCTGAAGGACGAGGAGCCTG	0.463																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.(937-939)gaC>gaT		G patch domain containing 1							191	191	191					19																	33588747		2203	4300	6503	SO:0001819	synonymous_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33588747C>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.939C>T	19.37:g.33588747C>T							p.D313D	NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			8	1253	+	Esophageal squamous(110;0.137)		313					Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	ENST00000170564.2	37	c.939C>T	CCDS12428.1																																																																																				0.463	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		170	933	0	0	0	1	0	170	933					T	33588747	C	T	33588747	2	4	79	1	0	0	0	0	0	0	0	1	6619	535	19	1		1	GPATCH1	19	33588747	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101757	33588747	25540236	19013	29330											
WDR88	126248	broad.mit.edu	37	chr19	33647385	33647385	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagtttcgaaactgtggaGcctgtgtgactctgatgcag	15	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33647385G>T	ENST00000355868.3	+	7	1010	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	WDR88_ENST00000361680.2_Missense_Mutation_p.A312S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	312										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAACTGTGGAGCCTGTGTGAC	0.473																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(934-936)Gcc>Tcc		WD repeat domain 88							108	103	105					19																	33647385		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33647385G>T	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.934G>T	19.37:g.33647385G>T	ENSP00000348129:p.Ala312Ser					WDR88_ENST00000355868.3_Missense_Mutation_p.A312S	p.A312S			Q6ZMY6	WDR88_HUMAN			7	1012	+	Esophageal squamous(110;0.137)		312					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.934G>T	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020014	0.35606	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.38887	1.11;1.11	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.147620	0.06325	N	0.705236	T	0.52629	0.1746	L	0.38649	1.16	0.24566	N	0.99394	D	0.61080	0.989	P	0.60173	0.87	T	0.42999	-0.9418	10	0.20046	T	0.44	.	13.2963	0.60298	0.0:0.2597:0.7403:0.0	.	312	Q6ZMY6	WDR88_HUMAN	S	312	ENSP00000348129:A312S;ENSP00000355148:A312S	ENSP00000348129:A312S	A	+	1	0	WDR88	38339225	1.000000	0.71417	0.980000	0.43619	0.111000	0.19643	3.803000	0.55560	2.639000	0.89480	0.555000	0.69702	GCC		0.473	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		45	434	1	0	4.10826e-27	1	4.75084e-27	45	434					T	33647385	G	T	33647385	3	4	79	1	0	0	0	0	1	0	0	0	17389	971	34	3	960	3	WDR88	19	33647385	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58638	33647385	25481598	19014	29331											
LRP3	4037	broad.mit.edu	37	chr19	33696342	33696342	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcccatgcagcggggcGcgctccacgcgctgcctgcc	12	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696342G>A	ENST00000253193.7	+	5	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	222	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGCGGGGCGCGCTCCACGC	0.741																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(664-666)gcG>gcA		low density lipoprotein receptor-related protein 3							8	10	9					19																	33696342		2148	4211	6359	SO:0001819	synonymous_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696342G>A	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.666G>A	19.37:g.33696342G>A							p.A222A	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	868	+	Esophageal squamous(110;0.137)		222			LDL-receptor class A 2.		B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	c.666G>A	CCDS12430.1																																																																																				0.741	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			16	71	0	0	0	1	0	16	71					A	33696342	G	A	33696342	2	1	79	1	0	0	0	0	0	0	0	1	8996	1074	38	1		1	LRP3	19	33696342	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48957	33696342	25432641	19015	29332											
LRP3	4037	broad.mit.edu	37	chr19	33696652	33696652	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accgcctgctgcagacgctgTcctaccgcagcaaccaccgg	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696652T>C	ENST00000253193.7	+	5	1178	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	326	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGACGCTGTCCTACCGCAG	0.721																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(976-978)Tcc>Ccc		low density lipoprotein receptor-related protein 3							8	11	10					19																	33696652		2139	4201	6340	SO:0001583	missense	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33696652T>C	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.976T>C	19.37:g.33696652T>C	ENSP00000253193:p.Ser326Pro						p.S326P	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			5	1178	+	Esophageal squamous(110;0.137)		326			CUB 2.		B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	c.976T>C	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627330	0.66901	.	.	ENSG00000130881	ENST00000431491;ENST00000253193	T	0.18960	2.18	5.02	5.02	0.67125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.60455	1.87	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.985;0.993;0.985	T	0.26677	-1.0096	10	0.54805	T	0.06	-44.833	13.9237	0.63950	0.0:0.0:0.0:1.0	.	200;326;244	C9J8W0;O75074;B7ZAJ9	.;LRP3_HUMAN;.	P	200;326	ENSP00000253193:S326P	ENSP00000253193:S326P	S	+	1	0	LRP3	38388492	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.917000	0.63369	1.897000	0.54924	0.260000	0.18958	TCC		0.721	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			17	88	0	0	0	1	0	17	88					C	33696652	T	C	33696652	3	2	79	1	0	0	0	0	1	0	0	0	8996	1667	58	4	994	4	LRP3	19	33696652	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	310	33696652	25432331	19016	29333											
SLC7A10	56301	broad.mit.edu	37	chr19	33701722	33701722	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acttacacagacgaggagggCggggatgggggtgcagtgtc	19	7	0	1	rs567777677		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	ENST00000253188.4	-	8	1245	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	367					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACGAGGAGGGCGGGGATGGGG	0.667																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(1099-1101)Gcc>Tcc		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							52	49	50					19																	33701722		2202	4296	6498	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33701722C>A	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1099G>T	19.37:g.33701722C>A	ENSP00000253188:p.Ala367Ser						p.A367S	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			8	1245	-	Esophageal squamous(110;0.137)		367					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.1099G>T	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725940	0.69074	.	.	ENSG00000130876	ENST00000253188	D	0.91521	-2.86	5.08	5.08	0.68730	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93449	0.7910	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.90735	0.4645	10	0.16896	T	0.51	.	17.8044	0.88598	0.0:1.0:0.0:0.0	.	367;214	Q9NS82;Q9NWI3	AAA1_HUMAN;.	S	367	ENSP00000253188:A367S	ENSP00000253188:A367S	A	-	1	0	SLC7A10	38393562	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.590000	0.82653	2.536000	0.85505	0.491000	0.48974	GCC		0.667	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		125	507	1	0	8.20597e-53	1	1.02137e-52	125	507					A	33701722	C	A	33701722	3	1	79	1	0	0	0	0	1	0	0	0	14743	768	27	3	488	3	SLC7A10	19	33701722	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5070	33701722	25427261	19017	29334											
SLC7A10	56301	broad.mit.edu	37	chr19	33706682	33706682	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccccacactcacccagccaGgcccccgaagatctctgtga	8	19	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33706682G>T	ENST00000253188.4	-	2	495	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	CTD-2540B15.6_ENST00000590492.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	117					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACCCAGCCAGGCCCCCGAAG	0.652																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(349-351)Ctg>Atg		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							32	28	30					19																	33706682		2148	4228	6376	SO:0001583	missense	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33706682G>T	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.349C>A	19.37:g.33706682G>T	ENSP00000253188:p.Leu117Met						p.L117M	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			2	495	-	Esophageal squamous(110;0.137)		117					B2RE84	Missense_Mutation	SNP	ENST00000253188.4	37	c.349C>A	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685885	0.68157	.	.	ENSG00000130876	ENST00000253188	D	0.90900	-2.75	4.79	4.79	0.61399	Amino acid permease domain (1);	0.076843	0.53938	D	0.000058	D	0.93651	0.7972	M	0.75615	2.305	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.93389	0.6750	10	0.72032	D	0.01	.	7.0484	0.25059	0.1969:0.0:0.8031:0.0	.	117	Q9NS82	AAA1_HUMAN	M	117	ENSP00000253188:L117M	ENSP00000253188:L117M	L	-	1	2	SLC7A10	38398522	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.879000	0.39618	2.240000	0.73641	0.456000	0.33151	CTG		0.652	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		3	19	1	0	0.004672	1	0.00470394	3	19					T	33706682	G	T	33706682	3	4	79	1	0	0	0	0	1	0	0	0	14743	991	35	3	1262	3	SLC7A10	19	33706682	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4960	33706682	25422301	19018	29335											
CHST8	64377	broad.mit.edu	37	chr19	34263210	34263210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaccgggcgagcagcagcCgccgggccgtcacgccccgc	15	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	ENST00000262622.4	+	4	1275	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_ENST00000434302.1_Missense_Mutation_p.R173C|CHST8_ENST00000438847.3_Missense_Mutation_p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	173					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)					GAGCAGCAGCCGCCGGGCCGT	0.706																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(517-519)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							11	13	13					19																	34263210		2168	4219	6387	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263210C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.517C>T	19.37:g.34263210C>T	ENSP00000262622:p.Arg173Cys					CHST8_ENST00000434302.1_Missense_Mutation_p.R173C|CHST8_ENST00000438847.2_Missense_Mutation_p.R173C	p.R173C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1275	+	Esophageal squamous(110;0.162)		173					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.517C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547527	0.65311	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75477	-0.94;-0.94;-0.94	4.93	4.93	0.64822	.	0.420672	0.21221	N	0.078156	T	0.76955	0.4060	L	0.32530	0.975	0.49582	D	0.9998	D	0.76494	0.999	D	0.63703	0.917	T	0.75233	-0.3390	10	0.36615	T	0.2	-4.1341	12.8387	0.57788	0.1745:0.8255:0.0:0.0	.	173	Q9H2A9	CHST8_HUMAN	C	173	ENSP00000392604:R173C;ENSP00000393879:R173C;ENSP00000262622:R173C	ENSP00000262622:R173C	R	+	1	0	CHST8	38955050	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.078000	0.41567	2.262000	0.75019	0.478000	0.44815	CGC		0.706	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		44	169	0	0	0	1	0	44	169					T	34263210	C	T	34263210	3	4	79	1	0	0	0	0	1	0	0	0	3419	652	23	1	527	1	CHST8	19	34263210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	556528	34263210	24865773	19019	29336											
CHST8	64377	broad.mit.edu	37	chr19	34263465	34263465	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaccaagatgctctttgtcCgcgagcccttcgagaggctg	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	ENST00000262622.4	+	4	1530	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_ENST00000434302.1_Missense_Mutation_p.R258C|CHST8_ENST00000438847.3_Missense_Mutation_p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	258					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)					GCTCTTTGTCCGCGAGCCCTT	0.607																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(772-774)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							113	103	107					19																	34263465		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263465C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.772C>T	19.37:g.34263465C>T	ENSP00000262622:p.Arg258Cys					CHST8_ENST00000434302.1_Missense_Mutation_p.R258C|CHST8_ENST00000438847.2_Missense_Mutation_p.R258C	p.R258C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1530	+	Esophageal squamous(110;0.162)		258					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.772C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581599	0.65992	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	D;D;D	0.94376	-3.41;-3.41;-3.41	4.73	3.68	0.42216	.	0.000000	0.64402	D	0.000001	D	0.97288	0.9113	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-3.592	13.2052	0.59790	0.1607:0.8393:0.0:0.0	.	258	Q9H2A9	CHST8_HUMAN	C	258	ENSP00000392604:R258C;ENSP00000393879:R258C;ENSP00000262622:R258C	ENSP00000262622:R258C	R	+	1	0	CHST8	38955305	1.000000	0.71417	0.587000	0.28692	0.791000	0.44710	4.738000	0.62073	0.943000	0.37553	0.297000	0.19635	CGC		0.607	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		113	487	0	0	0	1	0	113	487					T	34263465	C	T	34263465	3	4	79	1	0	0	0	0	1	0	0	0	3419	652	23	1	782	1	CHST8	19	34263465	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	34263465	24865518	19020	29337											
CHST8	64377	broad.mit.edu	37	chr19	34263870	34263870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcgcccaccagtacttcGcccaactctcggccctgcaa	8	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	ENST00000262622.4	+	4	1935	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_ENST00000434302.1_Missense_Mutation_p.A393T|CHST8_ENST00000438847.3_Missense_Mutation_p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	393					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)					CCAGTACTTCGCCCAACTCTC	0.602																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(1177-1179)Gcc>Acc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							50	53	52					19																	34263870		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263870G>A	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.1177G>A	19.37:g.34263870G>A	ENSP00000262622:p.Ala393Thr					CHST8_ENST00000434302.1_Missense_Mutation_p.A393T|CHST8_ENST00000438847.2_Missense_Mutation_p.A393T	p.A393T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1935	+	Esophageal squamous(110;0.162)		393					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.1177G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	8.833	0.940439	0.18281	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74315	-0.83;-0.83;-0.83	5.01	1.49	0.22878	.	0.304937	0.30820	N	0.008803	T	0.60843	0.2300	L	0.43757	1.38	0.44985	D	0.998006	B	0.10296	0.003	B	0.13407	0.009	T	0.45906	-0.9229	10	0.23302	T	0.38	-16.628	7.4665	0.27324	0.0819:0.0:0.6276:0.2906	.	393	Q9H2A9	CHST8_HUMAN	T	393	ENSP00000392604:A393T;ENSP00000393879:A393T;ENSP00000262622:A393T	ENSP00000262622:A393T	A	+	1	0	CHST8	38955710	0.964000	0.33143	0.410000	0.26471	0.260000	0.26232	0.929000	0.28844	0.103000	0.17682	0.297000	0.19635	GCC		0.602	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		53	203	0	0	0	1	0	53	203					A	34263870	G	A	34263870	3	1	79	1	0	0	0	0	1	0	0	0	3419	1087	38	1	1187	1	CHST8	19	34263870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	34263870	24865113	19021	29338											
LSM14A	26065	broad.mit.edu	37	chr19	34663663	34663663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaactccaccgtagcccttgCcaaaggtacgcgggaccggg	12	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34663663C>T	ENST00000433627.5	+	1	191	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V|LSM14A_ENST00000544216.3_Missense_Mutation_p.A39V	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	39					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)					GTAGCCCTTGCCAAAGGTACG	0.687																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(115-117)gCc>gTc		LSM14A, SCD6 homolog A (S. cerevisiae)							54	50	51					19																	34663663		2202	4300	6502	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34663663C>T	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.116C>T	19.37:g.34663663C>T	ENSP00000413964:p.Ala39Val					LSM14A_ENST00000540746.2_Missense_Mutation_p.A39V|LSM14A_ENST00000433627.5_Missense_Mutation_p.A39V	p.A39V	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			1	193	+	Esophageal squamous(110;0.162)		39					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.116C>T	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181813	0.94885	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.35236	1.32;1.33;1.4	4.75	4.75	0.60458	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.107342	0.64402	D	0.000006	T	0.61502	0.2352	M	0.84846	2.72	0.80722	D	1	D;B;P	0.57571	0.98;0.089;0.889	P;B;P	0.60541	0.876;0.187;0.731	T	0.66602	-0.5882	10	0.42905	T	0.14	-5.5106	17.3421	0.87299	0.0:1.0:0.0:0.0	.	39;39;39	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	V	39	ENSP00000446271:A39V;ENSP00000413964:A39V;ENSP00000446451:A39V	ENSP00000314768:A39V	A	+	2	0	LSM14A	39355503	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.225000	0.78051	2.171000	0.68590	0.484000	0.47621	GCC		0.687	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		17	94	0	0	0	1	0	17	94					T	34663663	C	T	34663663	3	4	79	1	0	0	0	0	1	0	0	0	9092	739	26	2	118	2	LSM14A	19	34663663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399793	34663663	24465320	19022	29339											
LSM14A	26065	broad.mit.edu	37	chr19	34710328	34710328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctccaaggagagggCgtgggggtcatcggggtggc	19	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710328C>T	ENST00000433627.5	+	7	889	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C|LSM14A_ENST00000544216.3_Missense_Mutation_p.R272C	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	272					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAGAGGGCGTGGGGGTCA	0.438																																						ENST00000544216.3																			1	Substitution - Missense(1)	p.R272C(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(814-816)Cgt>Tgt		LSM14A, SCD6 homolog A (S. cerevisiae)							68	79	75					19																	34710328		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710328C>T	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.814C>T	19.37:g.34710328C>T	ENSP00000413964:p.Arg272Cys					LSM14A_ENST00000540746.2_Missense_Mutation_p.R231C|LSM14A_ENST00000433627.5_Missense_Mutation_p.R272C	p.R272C	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			7	891	+	Esophageal squamous(110;0.162)		272					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.814C>T	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	c	16.68	3.190986	0.58017	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.38401	1.18;1.16;1.14	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	M	0.80746	2.51	0.80722	D	1	B;D;B	0.89917	0.362;1.0;0.263	B;D;B	0.79784	0.117;0.993;0.051	T	0.62548	-0.6831	10	0.48119	T	0.1	-10.3844	14.8295	0.70137	0.1438:0.8562:0.0:0.0	.	231;272;272	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	C	272;272;231	ENSP00000446271:R272C;ENSP00000413964:R272C;ENSP00000446451:R231C	ENSP00000314768:R272C	R	+	1	0	LSM14A	39402168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.529000	0.60588	2.734000	0.93682	0.655000	0.94253	CGT		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		86	532	0	0	0	1	0	86	532					T	34710328	C	T	34710328	3	4	79	1	0	0	0	0	1	0	0	0	9092	768	27	1	840	1	LSM14A	19	34710328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46665	34710328	24418655	19023	29340											
LSM14A	26065	broad.mit.edu	37	chr19	34710699	34710699	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaacagtgaaggaaatgcCgatgaagaagatccacttgg	11	7	0	4	rs201997010		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710699C>T	ENST00000433627.5	+	8	1128	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	LSM14A_ENST00000540746.2_Silent_p.A310A|LSM14A_ENST00000544216.3_Silent_p.A351A	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	351					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)					AAGGAAATGCCGATGAAGAAG	0.353																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(1051-1053)gcC>gcT		LSM14A, SCD6 homolog A (S. cerevisiae)							86	81	83					19																	34710699		2203	4300	6503	SO:0001819	synonymous_variant	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710699C>T	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.1053C>T	19.37:g.34710699C>T						LSM14A_ENST00000540746.2_Silent_p.A310A|LSM14A_ENST00000433627.5_Silent_p.A351A	p.A351A	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			8	1130	+	Esophageal squamous(110;0.162)		351					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	ENST00000433627.5	37	c.1053C>T	CCDS46040.1																																																																																				0.353	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		36	138	0	0	0	1	0	36	138					T	34710699	C	T	34710699	2	4	79	1	0	0	0	0	0	0	0	1	9092	639	23	1		1	LSM14A	19	34710699	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	371	34710699	24418284	19024	29341											
KIAA0355	9710	broad.mit.edu	37	chr19	34791678	34791678	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtactttcctcacagatctCttcagcactgtgttcaggaa	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34791678C>A	ENST00000299505.6	+	2	1173	c.300C>A	c.(298-300)ctC>ctA	p.L100L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	100										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCACAGATCTCTTCAGCACTG	0.547																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(298-300)ctC>ctA		KIAA0355							73	62	66					19																	34791678		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34791678C>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.300C>A	19.37:g.34791678C>A							p.L100L	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	1173	+	Esophageal squamous(110;0.162)		100					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.300C>A	CCDS12436.1																																																																																				0.547	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		75	255	1	0	7.25294e-45	1	8.88171e-45	75	255					A	34791678	C	A	34791678	2	1	79	1	0	0	0	0	0	0	0	1	8200	900	32	3		3	KIAA0355	19	34791678	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80979	34791678	24337305	19025	29342											
KIAA0355	9710	broad.mit.edu	37	chr19	34832959	34832959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcaccccaggctggggCacacacacctctgacacccc	10	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34832959C>T	ENST00000299505.6	+	10	2993	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	707										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGGCTGGGGCACACACACCT	0.632																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(2119-2121)gCa>gTa		KIAA0355							82	85	84					19																	34832959		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832959C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2120C>T	19.37:g.34832959C>T	ENSP00000299505:p.Ala707Val						p.A707V	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			10	2993	+	Esophageal squamous(110;0.162)		707					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2120C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.368916	0.61624	.	.	ENSG00000166398	ENST00000299505	T	0.25749	1.78	5.53	4.5	0.54988	.	0.548014	0.19528	N	0.112116	T	0.18841	0.0452	N	0.19112	0.55	0.35247	D	0.778351	B	0.02656	0.0	B	0.06405	0.002	T	0.11966	-1.0566	10	0.87932	D	0	-8.4863	13.4084	0.60926	0.0:0.9245:0.0:0.0755	.	707	O15063	K0355_HUMAN	V	707	ENSP00000299505:A707V	ENSP00000299505:A707V	A	+	2	0	KIAA0355	39524799	0.735000	0.28153	0.988000	0.46212	0.957000	0.61999	4.101000	0.57769	1.344000	0.45657	0.655000	0.94253	GCA		0.632	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		115	534	0	0	0	1	0	115	534					T	34832959	C	T	34832959	3	4	79	1	0	0	0	0	1	0	0	0	8200	710	25	2	2154	2	KIAA0355	19	34832959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41281	34832959	24296024	19026	29343											
GPI	2821	broad.mit.edu	37	chr19	34884918	34884918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgggtgtgagacacacGccatgctgccctatgaccag	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34884918G>A	ENST00000356487.5	+	12	1250	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	GPI_ENST00000586425.1_Missense_Mutation_p.A337T|GPI_ENST00000415930.3_Missense_Mutation_p.A348T	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	337					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGAGACACACGCCATGCTGCC	0.602																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1042-1044)Gcc>Acc		glucose-6-phosphate isomerase							103	92	95					19																	34884918		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34884918G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1009G>A	19.37:g.34884918G>A	ENSP00000348877:p.Ala337Thr					GPI_ENST00000586425.1_Missense_Mutation_p.A337T|GPI_ENST00000356487.5_Missense_Mutation_p.A337T	p.A348T	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			12	1212	+	Esophageal squamous(110;0.162)		337					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1042G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681633	0.68042	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94687	-3.49;-3.49	5.48	4.45	0.53987	.	0.154506	0.56097	D	0.000022	D	0.97031	0.9030	M	0.87547	2.89	0.80722	D	1	P;D;P;D	0.60160	0.944;0.987;0.944;0.972	P;P;P;B	0.61874	0.499;0.895;0.499;0.44	D	0.97544	1.0088	10	0.87932	D	0	-10.4711	14.2882	0.66258	0.0717:0.0:0.9283:0.0	.	309;348;310;337	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	T	348;337	ENSP00000405573:A348T;ENSP00000348877:A337T	ENSP00000348877:A337T	A	+	1	0	GPI	39576758	1.000000	0.71417	0.077000	0.20336	0.030000	0.12068	7.635000	0.83286	1.327000	0.45338	-0.145000	0.13849	GCC		0.602	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			20	514	0	0	0	1	0	20	514					A	34884918	G	A	34884918	3	1	79	1	0	0	0	0	1	0	0	0	6640	1087	38	1	1176	1	GPI	19	34884918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51959	34884918	24244065	19027	29344											
GPI	2821	broad.mit.edu	37	chr19	34887303	34887303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggagccagggaccaatgGccagcatgctttttaccagc	14	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34887303G>A	ENST00000356487.5	+	13	1401	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	GPI_ENST00000586425.1_Missense_Mutation_p.G387D|GPI_ENST00000415930.3_Missense_Mutation_p.G398D	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	387					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGACCAATGGCCAGCATGCT	0.562																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1192-1194)gGc>gAc		glucose-6-phosphate isomerase							66	65	65					19																	34887303		2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887303G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1160G>A	19.37:g.34887303G>A	ENSP00000348877:p.Gly387Asp					GPI_ENST00000586425.1_Missense_Mutation_p.G387D|GPI_ENST00000356487.5_Missense_Mutation_p.G387D	p.G398D	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			13	1363	+	Esophageal squamous(110;0.162)		387					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.1193G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419485	0.96111	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.92858	-3.12;-3.12	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.96084	0.8724	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.999	D;D;D;D	0.83275	0.994;0.995;0.994;0.996	D	0.96163	0.9117	10	0.87932	D	0	-10.4995	19.622	0.95660	0.0:0.0:1.0:0.0	.	359;398;360;387	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	D	398;387	ENSP00000405573:G398D;ENSP00000348877:G387D	ENSP00000348877:G387D	G	+	2	0	GPI	39579143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.792000	0.99085	2.647000	0.89833	0.555000	0.69702	GGC		0.562	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			62	277	0	0	0	1	0	62	277					A	34887303	G	A	34887303	3	1	79	1	0	0	0	0	1	0	0	0	6640	1203	42	2	1331	2	GPI	19	34887303	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2385	34887303	24241680	19028	29345											
UBA2	10054	broad.mit.edu	37	chr19	34925772	34925772	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tactgtttgttttacttccaGctgcccgaaaccatgttaat	6	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34925772G>T	ENST00000246548.4	+	5	428		c.e5-1		UBA2_ENST00000439527.2_Splice_Site	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2						cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTACTTCCAGCTGCCCGAAA	0.353																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.e5-1		ubiquitin-like modifier activating enzyme 2							36	33	34					19																	34925772		2202	4300	6502	SO:0001630	splice_region_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34925772G>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.359-1G>T	19.37:g.34925772G>T						UBA2_ENST00000246548.4_Splice_Site				Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		5	568	+	Esophageal squamous(110;0.162)							B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Splice_Site	SNP	ENST00000246548.4	37		CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210801	0.79240	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1589	0.89702	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBA2	39617612	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.095000	0.94175	2.570000	0.86706	0.655000	0.94253	.		0.353	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	Intron	17	28	1	0	4.7546e-09	1	4.99022e-09	17	28					T	34925772	G	T	34925772	5	4	79	1	0	0	0	0	0	0	1	0	16882	985	34	3	376	3	UBA2	19	34925772	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38469	34925772	24203211	19029	29346											
UBA2	10054	broad.mit.edu	37	chr19	34957800	34957800	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagacctaggaaaggAcgttgaatttgaagttgttg	13	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34957800A>G	ENST00000246548.4	+	16	1692	c.1622A>G	c.(1621-1623)gAc>gGc	p.D541G	UBA2_ENST00000439527.2_Missense_Mutation_p.D445G|UBA2_ENST00000592791.1_Missense_Mutation_p.D67G	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	541					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.D541V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTAGGAAAGGACGTTGAATTT	0.458																																						ENST00000439527.2																			1	Substitution - Missense(1)	p.D541V(1)	large_intestine(1)	breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1333-1335)gAc>gGc		ubiquitin-like modifier activating enzyme 2							75	73	74					19																	34957800		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34957800A>G	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1622A>G	19.37:g.34957800A>G	ENSP00000246548:p.Asp541Gly					UBA2_ENST00000246548.4_Missense_Mutation_p.D541G|UBA2_ENST00000592791.1_Missense_Mutation_p.D67G	p.D445G			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		16	1832	+	Esophageal squamous(110;0.162)		541					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.1334A>G	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543855	0.86022	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.61040	0.14;1.3	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.65975	2.015	0.80722	D	1	B	0.32653	0.379	B	0.31686	0.134	T	0.61950	-0.6957	10	0.66056	D	0.02	-19.6184	14.8649	0.70406	1.0:0.0:0.0:0.0	.	541	Q9UBT2	SAE2_HUMAN	G	541;445	ENSP00000246548:D541G;ENSP00000437484:D445G	ENSP00000246548:D541G	D	+	2	0	UBA2	39649640	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.479000	0.90431	2.213000	0.71641	0.455000	0.32223	GAC		0.458	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		28	178	0	0	0	1	0	28	178					G	34957800	A	G	34957800	3	3	79	1	0	0	0	0	1	0	0	0	16882	275	10	4	1684	4	UBA2	19	34957800	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32028	34957800	24171183	19030	29347											
WTIP	126374	broad.mit.edu	37	chr19	34991053	34991053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggactgcgggctgcagctgaGcggggaggagggacgccgtt	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34991053G>T	ENST00000590071.2	+	8	1509	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	391	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGCAGCTGAGCGGGGAGGAG	0.677																																						ENST00000590071.2																			0				NS(1)|large_intestine(2)|lung(1)	4						c.(1171-1173)aGc>aTc		Wilms tumor 1 interacting protein							30	37	35					19																	34991053		2143	4242	6385	SO:0001583	missense	126374							g.chr19:34991053G>T	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"WT1-interacting protein"	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.1172G>T	19.37:g.34991053G>T	ENSP00000466953:p.Ser391Ile					WTIP_ENST00000270288.6_Missense_Mutation_p.S615I	p.S391I	NM_001080436.1	NP_001073905.1			LUSC - Lung squamous cell carcinoma(66;0.211)		8	1509	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Missense_Mutation	SNP	ENST00000590071.2	37	c.1172G>T	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275618	0.59649	.	.	ENSG00000142279	ENST00000270288	D	0.87966	-2.32	4.35	3.04	0.35103	Zinc finger, LIM-type (4);	0.180578	0.50627	D	0.000107	D	0.91068	0.7189	M	0.85373	2.75	0.35499	D	0.799668	D	0.61697	0.99	D	0.63877	0.919	D	0.91846	0.5487	10	0.72032	D	0.01	.	3.9293	0.09278	0.3703:0.0:0.6297:0.0	.	615	A6NIX2	WTIP_HUMAN	I	615	ENSP00000270288:S615I	ENSP00000270288:S615I	S	+	2	0	WTIP	39682893	1.000000	0.71417	0.995000	0.50966	0.570000	0.35934	3.870000	0.56070	2.101000	0.63845	0.305000	0.20034	AGC		0.677	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		24	141	1	0	7.01153e-11	1	7.45501e-11	24	141					T	34991053	G	T	34991053	3	4	79	1	0	0	0	0	1	0	0	0	17464	971	34	3	1202	3	WTIP	19	34991053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33253	34991053	24137930	19031	29348											
ZNF792	126375	broad.mit.edu	37	chr19	35449350	35449350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgctcaccagtgtgaactCgctgatgtttcatgaggtca	11	11	3	3	rs146414036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35449350C>T	ENST00000404801.1	-	4	1795	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			AGTGTGAACTCGCTGATGTTT	0.512																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1408-1410)cGa>cAa		zinc finger protein 792		C	GLN/ARG	0,4406		0,0,2203	116	112	113		1409	1.6	0.1	19	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF792	NM_175872.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	470/633	35449350	1,13005	2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449350C>T	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.1409G>A	19.37:g.35449350C>T	ENSP00000385099:p.Arg470Gln					ZNF792_ENST00000605484.1_Missense_Mutation_p.R403Q	p.R470Q	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1795	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		470					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1409G>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	18.09	3.545878	0.65198	0.0	1.16E-4	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.24723	1.84	2.61	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42653	0.1212	M	0.69463	2.115	0.23076	N	0.998336	D	0.89917	1.0	D	0.66497	0.944	T	0.13255	-1.0516	9	0.87932	D	0	.	7.4294	0.27118	0.0:0.8604:0.0:0.1396	.	470	Q3KQV3	ZN792_HUMAN	Q	470;230	ENSP00000385099:R470Q	ENSP00000368487:R230Q	R	-	2	0	ZNF792	40141190	0.000000	0.05858	0.136000	0.22124	0.920000	0.55202	0.774000	0.26675	0.665000	0.31066	0.563000	0.77884	CGA		0.512	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		108	461	0	0	0	1	0	108	461					T	35449350	C	T	35449350	3	4	79	1	0	0	0	0	1	0	0	0	18217	884	31	1	493	1	ZNF792	19	35449350	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	458297	35449350	23679633	19032	29349											
GRAMD1A	57655	broad.mit.edu	37	chr19	35501086	35501086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctacagcaacatcttccGctgggagaccacggtgagcc	10	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35501086G>A	ENST00000317991.5	+	5	608	c.416G>A	c.(415-417)cGc>cAc	p.R139H	GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H|GRAMD1A_ENST00000504615.2_De_novo_Start_OutOfFrame|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000598073.1_3'UTR	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	139	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AACATCTTCCGCTGGGAGACC	0.657																																						ENST00000504615.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19								GRAM domain containing 1A							76	79	78					19																	35501086		1926	4131	6057	SO:0001583	missense	57655					integral to membrane		g.chr19:35501086G>A	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.416G>A	19.37:g.35501086G>A	ENSP00000441032:p.Arg139His					GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R226H|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R139H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R132H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R139H|GRAMD1A_ENST00000598073.1_3'UTR				Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		0	572	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)							A6NKY7|Q8NC77|Q9P1Z5	Translation_Start_Site	SNP	ENST00000317991.5	37		CCDS42546.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490486	0.96339	.	.	ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896	D;D	0.87412	-2.25;-2.25	5.38	5.38	0.77491	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.93966	0.8068	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.992;0.974	D	0.94105	0.7365	10	0.59425	D	0.04	.	16.6817	0.85294	0.0:0.0:1.0:0.0	.	139;139;132;226	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.	H	226;139;132	ENSP00000441032:R139H;ENSP00000439267:R132H	ENSP00000441032:R139H	R	+	2	0	GRAMD1A	40192926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.462000	0.97649	2.793000	0.96121	0.655000	0.94253	CGC		0.657	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		28	731	0	0	0	1	0	28	731					A	35501086	G	A	35501086	3	1	79	1	0	0	0	0	1	0	0	0	6777	1087	38	1	434	1	GRAMD1A	19	35501086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51736	35501086	23627897	19033	29350											
HPN	3249	broad.mit.edu	37	chr19	35550662	35550662	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctcctcgcgctccaaCgccagggtagccggactcag	12	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35550662C>T	ENST00000262626.2	+	5	1071	c.246C>T	c.(244-246)aaC>aaT	p.N82N	HPN_ENST00000597419.1_Silent_p.N34N|HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Silent_p.N82N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	82	SRCR.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGCGCTCCAACGCCAGGGTAG	0.682																																						ENST00000262626.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19						c.(244-246)aaC>aaT		hepsin	Coagulation factor VIIa(DB00036)						17	14	15					19																	35550662		2195	4293	6488	SO:0001819	synonymous_variant	3249				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr19:35550662C>T		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"Serine peptidases / Transmembrane"	5155	protein-coding gene	gene with protein product	"transmembrane protease, serine 1"	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.246C>T	19.37:g.35550662C>T						HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Silent_p.N34N|HPN_ENST00000392226.1_Silent_p.N82N|HPN_ENST00000600675.1_3'UTR	p.N82N	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		5	1071	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		82			SRCR.		B2RDS4	Silent	SNP	ENST00000262626.2	37	c.246C>T	CCDS32993.1																																																																																				0.682	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461573.1	NM_002151		10	39	0	0	0	1	0	10	39					T	35550662	C	T	35550662	2	4	79	1	0	0	0	0	0	0	0	1	7366	535	19	1		1	HPN	19	35550662	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49576	35550662	23578321	19034	29351											
LGI4	163175	broad.mit.edu	37	chr19	35616231	35616231	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagggccggaggccccaGctcctgcagtggctccagga	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35616231G>T	ENST00000310123.3	-	9	1999	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	494					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAGGCCCCAGCTCCTGCAGT	0.652																																						ENST00000310123.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1480-1482)Ctg>Atg		leucine-rich repeat LGI family, member 4							27	32	30					19																	35616231		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35616231G>T	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1480C>A	19.37:g.35616231G>T	ENSP00000312273:p.Leu494Met					LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	p.L494M	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	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)		9	1999	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		494					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1480C>A	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908672	0.52439	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.69175	-0.38	5.15	2.97	0.34412	.	0.000000	0.51477	D	0.000092	T	0.75532	0.3862	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.74509	-0.3642	10	0.87932	D	0	.	7.5644	0.27870	0.2695:0.0:0.7305:0.0	.	494	Q8N135	LGI4_HUMAN	M	494;495	ENSP00000312273:L494M	ENSP00000312273:L494M	L	-	1	2	LGI4	40308071	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	2.295000	0.43576	0.552000	0.29026	-0.350000	0.07774	CTG		0.652	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			56	194	1	0	2.23044e-30	1	2.6157e-30	56	194					T	35616231	G	T	35616231	3	4	79	1	0	0	0	0	1	0	0	0	8786	962	34	3	137	3	LGI4	19	35616231	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65569	35616231	23512752	19035	29352											
FXYD5	53827	broad.mit.edu	37	chr19	35657206	35657206	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcgcagctgtgctgttcatCacaggcatcatcatcctcac	8	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35657206C>T	ENST00000342879.3	+	7	1243	c.465C>T	c.(463-465)atC>atT	p.I155I	FXYD5_ENST00000423817.3_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000541435.2_Silent_p.I155I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Silent_p.I155I			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	155					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTGTTCATCACAGGCATCA	0.557																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(463-465)atC>atT		FXYD domain containing ion transport regulator 5							145	148	147					19																	35657206		2203	4300	6503	SO:0001819	synonymous_variant	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657206C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"dysadherin"	606669	"FXYD domain-containing ion transport regulator 5"				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.465C>T	19.37:g.35657206C>T						FXYD5_ENST00000392219.2_Silent_p.I155I|FXYD5_ENST00000590686.1_Silent_p.I155I|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392217.3_Silent_p.I84I|FXYD5_ENST00000541435.2_Silent_p.I155I|FXYD5_ENST00000588699.1_Silent_p.I155I|FXYD5_ENST00000543307.1_Silent_p.I155I|FXYD5_ENST00000423817.3_Silent_p.I155I	p.I155I			Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		7	1243	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		155					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Silent	SNP	ENST00000342879.3	37	c.465C>T	CCDS12447.1																																																																																				0.557	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		14	891	0	0	0	1	0	14	891					T	35657206	C	T	35657206	2	4	79	1	0	0	0	0	0	0	0	1	6148	816	29	2		2	FXYD5	19	35657206	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40975	35657206	23471777	19036	29353											
CD22	933	broad.mit.edu	37	chr19	35836007	35836007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagaattccagcggccagaGcttctttgtgaggaataaaa	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35836007G>T	ENST00000085219.5	+	11	2252	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	729					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)			AGCGGCCAGAGCTTCTTTGTG	0.552																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2185-2187)aGc>aTc		CD22 molecule	OspA lipoprotein(DB00045)						65	70	68					19																	35836007		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35836007G>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2186G>T	19.37:g.35836007G>T	ENSP00000085219:p.Ser729Ile					CD22_ENST00000594250.1_Missense_Mutation_p.S552I|CD22_ENST00000544992.2_Missense_Mutation_p.S729I|CD22_ENST00000341773.6_Missense_Mutation_p.S552I|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.S557I|CD22_ENST00000536635.2_Missense_Mutation_p.S641I	p.S729I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	2252	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		729					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2186G>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304738	0.60305	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000419549	T;T;T;T;T	0.56444	0.95;0.54;0.46;0.94;1.01	5.32	3.03	0.35002	.	0.239865	0.30085	N	0.010457	T	0.64864	0.2637	M	0.75447	2.3	0.30270	N	0.792324	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.963;0.999;0.992;0.992;0.999	T	0.60398	-0.7271	10	0.20519	T	0.43	.	6.9595	0.24590	0.0941:0.174:0.7319:0.0	.	557;729;641;729;552	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	I	729;641;552;729;557	ENSP00000085219:S729I;ENSP00000442279:S641I;ENSP00000339349:S552I;ENSP00000441237:S729I;ENSP00000403822:S557I	ENSP00000085219:S729I	S	+	2	0	CD22	40527847	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.117000	0.41939	1.245000	0.43885	0.563000	0.77884	AGC		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		71	381	1	0	1.34568e-36	1	1.61182e-36	71	381					T	35836007	G	T	35836007	3	4	79	1	0	0	0	0	1	0	0	0	2994	971	34	3	2224	3	CD22	19	35836007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178801	35836007	23292976	19037	29354											
CD22	933	broad.mit.edu	37	chr19	35837493	35837493	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actatgagaacgtcattccaGattttccagaagatgagggg	11	7	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35837493G>T	ENST00000085219.5	+	14	2503	c.2437G>T	c.(2437-2439)Gat>Tat	p.D813Y	CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	813					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)			CGTCATTCCAGATTTTCCAGA	0.542																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(2437-2439)Gat>Tat		CD22 molecule	OspA lipoprotein(DB00045)						52	40	44					19																	35837493		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837493G>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2437G>T	19.37:g.35837493G>T	ENSP00000085219:p.Asp813Tyr					CD22_ENST00000594250.1_Missense_Mutation_p.D636Y|CD22_ENST00000544992.2_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.D636Y|CD22_ENST00000270311.6_Missense_Mutation_p.D628Y|CD22_ENST00000419549.2_Missense_Mutation_p.D641Y|CD22_ENST00000536635.2_Missense_Mutation_p.D725Y	p.D813Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		14	2503	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		813					F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2437G>T	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791871	0.50102	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.58358	0.79;0.4;0.34;0.66;0.87	4.58	-5.01	0.02991	.	1.852020	0.02603	N	0.101271	T	0.54679	0.1873	L	0.29908	0.895	0.09310	N	1	D;P;D;D	0.71674	0.981;0.558;0.991;0.998	P;B;P;D	0.64776	0.592;0.12;0.687;0.929	T	0.56019	-0.8048	10	0.59425	D	0.04	.	6.3034	0.21125	0.5514:0.1399:0.3087:0.0	.	641;725;813;636	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	Y	813;725;636;628;641	ENSP00000085219:D813Y;ENSP00000442279:D725Y;ENSP00000339349:D636Y;ENSP00000270311:D628Y;ENSP00000403822:D641Y	ENSP00000085219:D813Y	D	+	1	0	CD22	40529333	0.001000	0.12720	0.000000	0.03702	0.068000	0.16541	0.350000	0.20079	-0.575000	0.05982	-0.384000	0.06662	GAT		0.542	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		11	54	1	0	2.80697e-09	1	2.95087e-09	11	54					T	35837493	G	T	35837493	3	4	79	1	0	0	0	0	1	0	0	0	2994	942	33	3	2487	3	CD22	19	35837493	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1486	35837493	23291490	19038	29355											
FFAR3	2865	broad.mit.edu	37	chr19	35850667	35850667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgactttcatgagctgctgaGgaggttgtgtgggctctggg	17	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35850667G>A	ENST00000327809.4	+	2	1076	c.875G>A	c.(874-876)aGg>aAg	p.R292K	FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	292					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GAGCTGCTGAGGAGGTTGTGT	0.592																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(874-876)aGg>aAg		free fatty acid receptor 3							37	29	32					19																	35850667		2200	4274	6474	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850667G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.875G>A	19.37:g.35850667G>A	ENSP00000328230:p.Arg292Lys					FFAR3_ENST00000594310.1_Missense_Mutation_p.R292K	p.R292K	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	1076	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		292					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.875G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	7.294	0.611728	0.14066	.	.	ENSG00000185897	ENST00000327809	T	0.37235	1.21	4.65	0.542	0.17174	.	2.645630	0.02352	U	0.075988	T	0.21841	0.0526	N	0.24115	0.695	0.09310	N	1	B	0.19935	0.04	B	0.13407	0.009	T	0.17048	-1.0382	10	0.02654	T	1	-0.3835	6.7057	0.23250	0.106:0.429:0.465:0.0	.	292	O14843	FFAR3_HUMAN	K	292	ENSP00000328230:R292K	ENSP00000328230:R292K	R	+	2	0	FFAR3	40542507	0.023000	0.18921	0.087000	0.20705	0.020000	0.10135	0.467000	0.22035	0.474000	0.27392	-0.391000	0.06502	AGG		0.592	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		50	200	0	0	0	1	0	50	200					A	35850667	G	A	35850667	3	1	79	1	0	0	0	0	1	0	0	0	5854	1000	35	2	877	2	FFAR3	19	35850667	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13174	35850667	23278316	19039	29356											
SBSN	374897	broad.mit.edu	37	chr19	36018273	36018273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatttccggcctgccccGcagcatggtgggccccctgg	12	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36018273G>A	ENST00000452271.2	-	1	939	c.911C>T	c.(910-912)gCg>gTg	p.A304V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	304	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)			GGCCTGCCCCGCAGCATGGTG	0.652																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(910-912)gCg>gTg		suprabasin							29	36	34					19																	36018273		692	1591	2283	SO:0001583	missense	374897					extracellular region		g.chr19:36018273G>A	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.911C>T	19.37:g.36018273G>A	ENSP00000430242:p.Ala304Val					SBSN_ENST00000518157.1_Intron	p.A304V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	939	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		177					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.911C>T	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	G	5.052	0.195340	0.09599	.	.	ENSG00000189001	ENST00000452271	T	0.40756	1.02	4.47	-8.94	0.00768	.	.	.	.	.	T	0.24084	0.0583	L	0.29908	0.895	0.09310	N	0.999999	B	0.14438	0.01	B	0.10450	0.005	T	0.22243	-1.0222	9	0.21540	T	0.41	.	10.4751	0.44659	0.2641:0.1889:0.547:0.0	.	304	E9PBV3	.	V	304	ENSP00000430242:A304V	ENSP00000430242:A304V	A	-	2	0	SBSN	40710113	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.346000	0.00503	-1.618000	0.01568	-0.672000	0.03802	GCG		0.652	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		8	97	0	0	0	1	0	8	97					A	36018273	G	A	36018273	3	1	79	1	0	0	0	0	1	0	0	0	13914	1087	38	1	877	1	SBSN	19	36018273	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167606	36018273	23110710	19040	29357											
GAPDHS	26330	broad.mit.edu	37	chr19	36029283	36029283	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggctgtgaatgatcCattcattgacccggaataca	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36029283C>A	ENST00000222286.4	+	3	436	c.320C>A	c.(319-321)cCa>cAa	p.P107Q	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	107					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGAATGATCCATTCATTGAC	0.582																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(319-321)cCa>cAa		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						89	63	72					19																	36029283		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36029283C>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.320C>A	19.37:g.36029283C>A	ENSP00000222286:p.Pro107Gln						p.P107Q	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		3	436	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		107					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.320C>A	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960297	0.92791	.	.	ENSG00000105679	ENST00000222286	T	0.30182	1.54	5.3	5.3	0.74995	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80079	-0.1532	10	0.87932	D	0	-13.3742	16.4475	0.83942	0.0:1.0:0.0:0.0	.	107	O14556	G3PT_HUMAN	Q	107	ENSP00000222286:P107Q	ENSP00000222286:P107Q	P	+	2	0	GAPDHS	40721123	1.000000	0.71417	0.890000	0.34922	0.957000	0.61999	7.745000	0.85046	2.450000	0.82876	0.655000	0.94253	CCA		0.582	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		24	119	1	0	7.33532e-06	1	7.53121e-06	24	119					A	36029283	C	A	36029283	3	1	79	1	0	0	0	0	1	0	0	0	6265	594	21	3	330	3	GAPDHS	19	36029283	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11010	36029283	23099700	19041	29358											
GAPDHS	26330	broad.mit.edu	37	chr19	36033285	36033285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggtggagtccacaggcGtgtacctctccatacaggca	12	12	1	0	rs147678774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36033285G>A	ENST00000222286.4	+	5	630	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	172					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCACAGGCGTGTACCTCTC	0.632																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(514-516)Gtg>Atg		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						52	50	51					19																	36033285		2203	4300	6503	SO:0001583	missense	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36033285G>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.514G>A	19.37:g.36033285G>A	ENSP00000222286:p.Val172Met					AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA	p.V172M	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		5	630	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		172					B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	c.514G>A	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909016	0.72868	.	.	ENSG00000105679	ENST00000222286	T	0.48522	0.81	5.24	3.08	0.35506	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.144521	0.45867	D	0.000336	T	0.65450	0.2692	M	0.86343	2.81	0.58432	D	0.999999	D	0.61697	0.99	P	0.60609	0.877	T	0.69877	-0.5026	10	0.72032	D	0.01	-17.6641	8.7846	0.34811	0.1862:0.0:0.8138:0.0	.	172	O14556	G3PT_HUMAN	M	172	ENSP00000222286:V172M	ENSP00000222286:V172M	V	+	1	0	GAPDHS	40725125	1.000000	0.71417	0.839000	0.33178	0.907000	0.53573	4.529000	0.60588	1.355000	0.45865	-0.448000	0.05591	GTG		0.632	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		9	199	0	0	0	1	0	9	199					A	36033285	G	A	36033285	3	1	79	1	0	0	0	0	1	0	0	0	6265	1145	40	1	532	1	GAPDHS	19	36033285	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4002	36033285	23095698	19042	29359											
TMEM147	10430	broad.mit.edu	37	chr19	36037431	36037431	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttctgttctcagatgCtgttcttggccactttcttt	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36037431C>T	ENST00000222284.5	+	3	296	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392205.1_Silent_p.L51L|TMEM147_ENST00000392204.2_Silent_p.L2L|AD000090.2_ENST00000444728.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	51						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCAGATGCTGTTCTTGGC	0.537																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(4-6)Ctg>Ttg		transmembrane protein 147							164	141	148					19																	36037431		2203	4300	6503	SO:0001819	synonymous_variant	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037431C>T	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.151C>T	19.37:g.36037431C>T						TMEM147_ENST00000222284.5_Silent_p.L51L|TMEM147_ENST00000392205.1_Silent_p.L51L	p.L2L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	332	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		51					A8MWW0|O75790	Silent	SNP	ENST00000222284.5	37	c.4C>T	CCDS12466.1																																																																																				0.537	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		41	211	0	0	0	1	0	41	211					T	36037431	C	T	36037431	2	4	79	1	0	0	0	0	0	0	0	1	16113	796	28	2		2	TMEM147	19	36037431	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4146	36037431	23091552	19043	29360											
ATP4A	495	broad.mit.edu	37	chr19	36046143	36046143	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agctgcatttttggcagcatCtgagccagcgatgcccatgg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36046143C>T	ENST00000262623.3	-	15	2279	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	751					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TTGGCAGCATCTGAGCCAGCG	0.602																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2251-2253)Gat>Aat		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						96	80	86					19																	36046143		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046143C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2251G>A	19.37:g.36046143C>T	ENSP00000262623:p.Asp751Asn						p.D751N	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		15	2279	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		751					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2251G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418517	0.83559	.	.	ENSG00000105675	ENST00000262623	D	0.98550	-4.99	4.66	4.66	0.58398	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000001	D	0.99357	0.9774	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98344	1.0540	10	0.87932	D	0	.	15.0789	0.72099	0.0:1.0:0.0:0.0	.	751	P20648	ATP4A_HUMAN	N	751	ENSP00000262623:D751N	ENSP00000262623:D751N	D	-	1	0	ATP4A	40737983	1.000000	0.71417	0.888000	0.34837	0.752000	0.42762	7.651000	0.83577	2.425000	0.82216	0.462000	0.41574	GAT		0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		78	255	0	0	0	1	0	78	255					T	36046143	C	T	36046143	3	4	79	1	0	0	0	0	1	0	0	0	1146	913	32	2	888	2	ATP4A	19	36046143	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8712	36046143	23082840	19044	29361											
ATP4A	495	broad.mit.edu	37	chr19	36050049	36050049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccaggttcttgaccacGcagttcttactggccaggcg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050049G>A	ENST00000262623.3	-	8	1129	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	367					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.C367C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCTTGACCACGCAGTTCTTAC	0.617																																						ENST00000262623.3																			1	Substitution - coding silent(1)	p.C367C(1)	lung(1)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1099-1101)tgC>tgT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						185	171	175					19																	36050049		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050049G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1101C>T	19.37:g.36050049G>A							p.C367C	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		8	1129	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		367					O00738	Silent	SNP	ENST00000262623.3	37	c.1101C>T	CCDS12467.1																																																																																				0.617	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		170	850	0	0	0	1	0	170	850					A	36050049	G	A	36050049	2	1	79	1	0	0	0	0	0	0	0	1	1146	1079	38	1		1	ATP4A	19	36050049	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3906	36050049	23078934	19045	29362											
ATP4A	495	broad.mit.edu	37	chr19	36050771	36050771	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggccatgaagaagaccatgGcccgcaggaaggtgtagcca	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050771G>T	ENST00000262623.3	-	7	1020	c.992C>A	c.(991-993)gCc>gAc	p.A331D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	331					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAAGACCATGGCCCGCAGGAA	0.587																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(991-993)gCc>gAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						82	67	72					19																	36050771		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050771G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.992C>A	19.37:g.36050771G>T	ENSP00000262623:p.Ala331Asp						p.A331D	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	1020	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		331					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.992C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475950	0.84640	.	.	ENSG00000105675	ENST00000262623	D	0.91180	-2.8	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000006	D	0.94631	0.8269	M	0.80847	2.515	0.80722	D	1	D	0.61080	0.989	D	0.68483	0.958	D	0.95198	0.8314	10	0.87932	D	0	.	13.5911	0.61961	0.0:0.0:1.0:0.0	.	331	P20648	ATP4A_HUMAN	D	331	ENSP00000262623:A331D	ENSP00000262623:A331D	A	-	2	0	ATP4A	40742611	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.559000	0.98135	2.146000	0.66826	0.561000	0.74099	GCC		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		53	221	1	0	1.46156e-29	1	1.70844e-29	53	221					T	36050771	G	T	36050771	3	4	79	1	0	0	0	0	1	0	0	0	1146	1203	42	3	2179	3	ATP4A	19	36050771	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	722	36050771	23078212	19046	29363											
ATP4A	495	broad.mit.edu	37	chr19	36053540	36053540	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaggctcgcagagaggcCctgggacagaggggcagggc	19	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36053540C>T	ENST00000262623.3	-	4	245	c.217G>A	c.(217-219)Ggc>Agc	p.G73S		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	73					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCAGAGAGGCCCTGGGACAGA	0.672																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.e4-1		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						9	10	10					19																	36053540		2180	4270	6450	SO:0001630	splice_region_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36053540C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.217-1G>A	19.37:g.36053540C>T							p.G73_splice	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	245	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		73					O00738	Splice_Site	SNP	ENST00000262623.3	37	c.216_splice	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.982953	0.74474	.	.	ENSG00000105675	ENST00000262623	D	0.99660	-6.32	3.45	3.45	0.39498	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.50627	D	0.000111	D	0.99711	0.9889	H	0.96430	3.82	0.51233	D	0.999913	D	0.89917	1.0	D	0.97110	1.0	D	0.97331	0.9950	10	0.87932	D	0	.	12.4861	0.55874	0.0:1.0:0.0:0.0	.	73	P20648	ATP4A_HUMAN	S	73	ENSP00000262623:G73S	ENSP00000262623:G73S	G	-	1	0	ATP4A	40745380	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.266000	0.78452	1.762000	0.52044	0.465000	0.42564	GGC		0.672	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	Missense_Mutation	11	60	0	0	0	1	0	11	60					T	36053540	C	T	36053540	5	4	79	1	0	0	0	0	0	0	1	0	1146	637	22	2	2966	2	ATP4A	19	36053540	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2769	36053540	23075443	19047	29364											
ATP4A	495	broad.mit.edu	37	chr19	36054427	36054427	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	accgagtagagctcatagttCtcctgggaatggacaggatg	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054427C>T	ENST00000262623.3	-	2	43	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	5					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCTCATAGTTCTCCTGGGAAT	0.637																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(13-15)gaG>gaA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						96	102	100					19																	36054427		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054427C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.15G>A	19.37:g.36054427C>T							p.E5E	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	43	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		5					O00738	Silent	SNP	ENST00000262623.3	37	c.15G>A	CCDS12467.1																																																																																				0.637	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		186	728	0	0	0	1	0	186	728					T	36054427	C	T	36054427	2	4	79	1	0	0	0	0	0	0	0	1	1146	912	32	2		2	ATP4A	19	36054427	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	887	36054427	23074556	19048	29365											
HAUS5	23354	broad.mit.edu	37	chr19	36106154	36106154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggagcaggcacgtcaGcacactcaagacacccagcg	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36106154G>T	ENST00000203166.5	+	6	376	c.351G>T	c.(349-351)caG>caT	p.Q117H	HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	117					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						AGGCACGTCAGCACACTCAAG	0.647																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(349-351)caG>caT		HAUS augmin-like complex, subunit 5							30	35	33					19																	36106154		2157	4259	6416	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36106154G>T	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.351G>T	19.37:g.36106154G>T	ENSP00000439056:p.Gln117His					HAUS5_ENST00000379045.2_Missense_Mutation_p.Q117H	p.Q117H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			6	376	+			117					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.351G>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478730	0.26511	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.33216	1.42;1.42	5.52	2.13	0.27403	.	0.377447	0.27473	N	0.019217	T	0.28797	0.0714	M	0.69823	2.125	0.09310	N	1	B	0.18013	0.025	B	0.15052	0.012	T	0.31024	-0.9958	10	0.72032	D	0.01	-5.4362	5.3833	0.16204	0.1877:0.1629:0.6493:0.0	.	117	O94927	HAUS5_HUMAN	H	117	ENSP00000439056:Q117H;ENSP00000444373:Q117H	ENSP00000439056:Q117H	Q	+	3	2	HAUS5	40797994	0.950000	0.32346	0.066000	0.19879	0.002000	0.02628	1.781000	0.38644	0.250000	0.21479	-0.145000	0.13849	CAG		0.647	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			24	139	1	0	1.26454e-06	1	1.30625e-06	24	139					T	36106154	G	T	36106154	3	4	79	1	0	0	0	0	1	0	0	0	6999	962	34	3	373	3	HAUS5	19	36106154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51727	36106154	23022829	19049	29366											
HAUS5	23354	broad.mit.edu	37	chr19	36109545	36109545	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggcaagtcttgacccaGcgcctccagggcctggtgga	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109545G>A	ENST00000203166.5	+	12	985	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	320					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						TCTTGACCCAGCGCCTCCAGG	0.647																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(958-960)caG>caA		HAUS augmin-like complex, subunit 5							54	60	58					19																	36109545		1995	4148	6143	SO:0001819	synonymous_variant	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36109545G>A	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.960G>A	19.37:g.36109545G>A						HAUS5_ENST00000379045.2_3'UTR	p.Q320Q	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			12	985	+			320					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	c.960G>A	CCDS42550.1																																																																																				0.647	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			69	321	0	0	0	1	0	69	321					A	36109545	G	A	36109545	2	1	79	1	0	0	0	0	0	0	0	1	6999	962	34	2		2	HAUS5	19	36109545	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3391	36109545	23019438	19050	29367											
HAUS5	23354	broad.mit.edu	37	chr19	36109792	36109792	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccacttgccctgcaggcaGgtgctgatactggggcttcg	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109792G>T	ENST00000203166.5	+	13	1045	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	340					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						CCTGCAGGCAGGTGCTGATAC	0.617																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1018-1020)caG>caT		HAUS augmin-like complex, subunit 5							48	47	47					19																	36109792		2068	4215	6283	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36109792G>T	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.1020G>T	19.37:g.36109792G>T	ENSP00000439056:p.Gln340His					HAUS5_ENST00000379045.2_3'UTR	p.Q340H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			13	1045	+			340					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1020G>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166373	0.21621	.	.	ENSG00000249115	ENST00000203166	T	0.30981	1.51	5.6	0.544	0.17185	.	0.532571	0.19741	N	0.107130	T	0.34774	0.0909	L	0.55481	1.735	0.37242	D	0.906142	P	0.44195	0.828	P	0.50617	0.646	T	0.27191	-1.0081	10	0.41790	T	0.15	-18.8135	8.1581	0.31183	0.3865:0.0:0.6135:0.0	.	340	O94927	HAUS5_HUMAN	H	340	ENSP00000439056:Q340H	ENSP00000439056:Q340H	Q	+	3	2	HAUS5	40801632	0.906000	0.30813	0.475000	0.27278	0.012000	0.07955	0.237000	0.17985	0.325000	0.23359	-0.217000	0.12591	CAG		0.617	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			33	301	1	0	2.68265e-12	1	2.87809e-12	33	301					T	36109792	G	T	36109792	3	4	79	1	0	0	0	0	1	0	0	0	6999	991	35	3	1070	3	HAUS5	19	36109792	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	36109792	23019191	19051	29368											
HAUS5	23354	broad.mit.edu	37	chr19	36113851	36113851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccccagtggcggctgCgctgggttcaggcccagggg	17	15	1	0	rs372249287		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36113851C>T	ENST00000203166.5	+	19	1883	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	620					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						GTGGCGGCTGCGCTGGGTTCA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		13892	0.001		0.0	False		,,,				2504	0.0					ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(1858-1860)Cgc>Tgc		HAUS augmin-like complex, subunit 5		C	CYS/ARG	1,3711		0,1,1855	26	29	28		1858	5.1	1	19		28	0,8152		0,0,4076	no	missense	HAUS5	NM_015302.1	180	0,1,5931	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging	620/634	36113851	1,11863	1856	4076	5932	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113851C>T	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.1858C>T	19.37:g.36113851C>T	ENSP00000439056:p.Arg620Cys					HAUS5_ENST00000379045.2_3'UTR	p.R620C	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			19	1883	+			620					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1858C>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.027513	0.54683	2.69E-4	0.0	ENSG00000249115	ENST00000203166	T	0.38560	1.13	5.09	5.09	0.68999	.	0.058422	0.64402	D	0.000005	T	0.61602	0.2360	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.64732	-0.6338	10	0.87932	D	0	-17.7701	13.8634	0.63574	0.0:1.0:0.0:0.0	.	620	O94927	HAUS5_HUMAN	C	620	ENSP00000439056:R620C	ENSP00000439056:R620C	R	+	1	0	HAUS5	40805691	1.000000	0.71417	0.995000	0.50966	0.069000	0.16628	2.329000	0.43876	2.659000	0.90383	0.596000	0.82720	CGC		0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			81	355	0	0	0	1	0	81	355					T	36113851	C	T	36113851	3	4	79	1	0	0	0	0	1	0	0	0	6999	768	27	1	1932	1	HAUS5	19	36113851	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4059	36113851	23015132	19052	29369											
RBM42	79171	broad.mit.edu	37	chr19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatgtggaaggaccggaatCtggacgtggtccgcaagaag	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK. {ECO:0000250}.					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)			GGACCGGAATCTGGACGTGGT	0.617																																						ENST00000262633.4																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21						c.(1390-1392)Ctg>Atg		RNA binding motif protein 42							110	109	109					19																	36128403		2203	4300	6503	SO:0001583	missense	79171					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:36128403C>A	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.1390C>A	19.37:g.36128403C>A	ENSP00000262633:p.Leu464Met					RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000589871.1_Missense_Mutation_p.L442M	p.L464M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		10	1495	+	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		464			Necessary for interaction with HNRNPK (By similarity).		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	ENST00000262633.4	37	c.1390C>A	CCDS12468.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262941	0.39995	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.06528	3.29;3.34	6.07	5.04	0.67666	.	0.171732	0.48767	D	0.000162	T	0.06872	0.0175	L	0.28014	0.82	0.47341	D	0.999399	P;B;P;B	0.44659	0.56;0.22;0.84;0.141	B;B;P;B	0.48304	0.437;0.101;0.573;0.047	T	0.30179	-0.9987	10	0.31617	T	0.26	-10.995	7.2472	0.26129	0.1696:0.7478:0.0:0.0826	.	430;435;434;464	Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;RBM42_HUMAN	M	464;435	ENSP00000262633:L464M;ENSP00000353663:L435M	ENSP00000262633:L464M	L	+	1	2	RBM42	40820243	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.934000	0.40163	2.885000	0.99019	0.655000	0.94253	CTG		0.617	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459057.2	NM_024321		46	263	1	0	2.215e-12	1	2.3786e-12	46	263					A	36128403	C	A	36128403	3	1	79	1	0	0	0	0	1	0	0	0	13186	912	32	3	1428	3	RBM42	19	36128403	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14552	36128403	23000580	19053	29370											
ETV2	2116	broad.mit.edu	37	chr19	36134268	36134268	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctcgcagaccctgGgccccgcccctctcggcccg	13	22	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36134268G>T	ENST00000403402.1	+	4	634	c.328G>T	c.(328-330)Ggc>Tgc	p.G110C	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000379026.2_Missense_Mutation_p.G138C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C			O00321	ETV2_HUMAN	ets variant 2	110					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGACCCTGGGCCCCGCCCC	0.741																																						ENST00000379026.2																			0				lung(2)	2						c.(412-414)Ggc>Tgc		ets variant 2							5	6	5					19																	36134268		2076	4184	6260	SO:0001583	missense	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36134268G>T	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.328G>T	19.37:g.36134268G>T	ENSP00000385369:p.Gly110Cys					ETV2_ENST00000479824.1_Missense_Mutation_p.G17C|ETV2_ENST00000403402.1_Missense_Mutation_p.G110C|ETV2_ENST00000402764.2_Missense_Mutation_p.G110C|ETV2_ENST00000379023.4_Intron	p.G138C			B9EIN1	B9EIN1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	851	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		110					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	c.412G>T	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	g	18.79	3.698179	0.68386	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379021;ENST00000403402	T;T;T	0.44083	0.93;0.93;0.93	3.87	2.84	0.33178	.	3.921250	0.01179	N	0.007058	T	0.54062	0.1835	L	0.29908	0.895	0.25390	N	0.988537	D;D;D	0.89917	0.998;1.0;0.998	P;D;P	0.80764	0.829;0.994;0.829	T	0.41945	-0.9480	10	0.87932	D	0	.	7.0931	0.25295	0.1211:0.0:0.8789:0.0	.	109;138;110	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	C	138;110;110;110	ENSP00000368312:G138C;ENSP00000384524:G110C;ENSP00000385369:G110C	ENSP00000368307:G110C	G	+	1	0	ETV2	40826108	0.168000	0.22989	0.515000	0.27774	0.052000	0.14988	0.816000	0.27267	1.221000	0.43506	0.556000	0.70494	GGC		0.741	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		10	41	1	0	0.000673444	1	0.000681208	10	41					T	36134268	G	T	36134268	3	4	79	1	0	0	0	0	1	0	0	0	5296	1232	43	3	342	3	ETV2	19	36134268	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5865	36134268	22994715	19054	29371											
UPK1A	11045	broad.mit.edu	37	chr19	36166803	36166803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacgtcagccttccgggCggccactccggaggtggtgt	14	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36166803C>T	ENST00000222275.2	+	5	530	c.530C>T	c.(529-531)gCg>gTg	p.A177V	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	177					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTCCGGGCGGCCACTCCG	0.642																																						ENST00000222275.2																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(529-531)gCg>gTg		uroplakin 1A							66	60	62					19																	36166803		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36166803C>T	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.530C>T	19.37:g.36166803C>T	ENSP00000222275:p.Ala177Val					UPK1A_ENST00000379013.2_Missense_Mutation_p.A177V	p.A177V	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	530	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		177					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.530C>T	CCDS12470.1	.	.	.	.	.	.	.	.	.	.	C	6.033	0.374512	0.11409	.	.	ENSG00000105668	ENST00000222275;ENST00000379013	T;T	0.79247	-1.25;-1.25	4.98	-0.367	0.12541	Tetraspanin, EC2 domain (1);	0.584934	0.15940	N	0.237240	T	0.53029	0.1771	N	0.08118	0	0.09310	N	1	P;P	0.38280	0.625;0.618	B;B	0.28465	0.088;0.09	T	0.36383	-0.9750	10	0.23302	T	0.38	-6.5041	15.524	0.75887	0.4122:0.5877:0.0:0.0	.	177;177	O00322-2;O00322	.;UPK1A_HUMAN	V	177	ENSP00000222275:A177V;ENSP00000368298:A177V	ENSP00000222275:A177V	A	+	2	0	UPK1A	40858643	0.000000	0.05858	0.077000	0.20336	0.294000	0.27393	-0.378000	0.07446	-0.101000	0.12219	-1.624000	0.00789	GCG		0.642	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			25	247	0	0	0	1	0	25	247					T	36166803	C	T	36166803	3	4	79	1	0	0	0	0	1	0	0	0	17061	768	27	1	548	1	UPK1A	19	36166803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32535	36166803	22962180	19055	29372											
UPK1A	11045	broad.mit.edu	37	chr19	36168745	36168745	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacatcggccacgccatcgAcagctacacgtggggtatct	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36168745A>G	ENST00000222275.2	+	6	680	c.680A>G	c.(679-681)gAc>gGc	p.D227G	UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	227					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACGCCATCGACAGCTACACG	0.642																																						ENST00000222275.2																			0				breast(1)|large_intestine(4)|lung(2)|stomach(2)	9						c.(679-681)gAc>gGc		uroplakin 1A							76	65	68					19																	36168745		2203	4300	6503	SO:0001583	missense	11045				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity	g.chr19:36168745A>G	AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.680A>G	19.37:g.36168745A>G	ENSP00000222275:p.Asp227Gly					UPK1A_ENST00000379013.2_Missense_Mutation_p.T260A	p.D227G	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	680	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		227					Q3KNU5|Q3KNU6	Missense_Mutation	SNP	ENST00000222275.2	37	c.680A>G	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.140171|3.140171	0.56936|0.56936	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.79247|0.06768	-1.25|3.26	5.43|5.43	5.43|5.43	0.79202|0.79202	Tetraspanin, EC2 domain (1);|.	.|0.948870	.|0.08490	.|U	.|0.938098	T|T	0.08403|0.08403	0.0209|0.0209	N|N	0.22421|0.22421	0.69|0.69	0.34787|0.34787	D|D	0.735353|0.735353	B|B	0.22851|0.31817	0.076|0.341	B|B	0.28011|0.30782	0.085|0.12	T|T	0.21008|0.21008	-1.0258|-1.0258	9|10	0.42905|0.87932	T|D	0.14|0	-6.5984|-6.5984	11.853|11.853	0.52422|0.52422	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	227|260	O00322|O00322-2	UPK1A_HUMAN|.	G|A	227|260	ENSP00000222275:D227G|ENSP00000368298:T260A	ENSP00000222275:D227G|ENSP00000368298:T260A	D|T	+|+	2|1	0|0	UPK1A|UPK1A	40860585|40860585	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	5.958000|5.958000	0.70330|0.70330	2.054000|2.054000	0.61138|0.61138	0.379000|0.379000	0.24179|0.24179	GAC|ACA		0.642	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3			14	159	0	0	0	1	0	14	159					G	36168745	A	G	36168745	3	3	79	1	0	0	0	0	1	0	0	0	17061	275	10	4	702	4	UPK1A	19	36168745	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1942	36168745	22960238	19056	29373											
ZBTB32	27033	broad.mit.edu	37	chr19	36205967	36205967	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaactgggggaccctggaGagaagcagaaaccagaacag	15	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36205967G>T	ENST00000392197.2	+	3	757	c.439G>T	c.(439-441)Gag>Tag	p.E147*	KMT2B_ENST00000607650.1_RNA|ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000420124.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	147					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACCCTGGAGAGAAGCAGAA	0.547																																						ENST00000392197.2																			0				large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14						c.(439-441)Gag>Tag		zinc finger and BTB domain containing 32							41	44	43					19																	36205967		2203	4300	6503	SO:0001587	stop_gained	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205967G>T	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.439G>T	19.37:g.36205967G>T	ENSP00000376035:p.Glu147*					ZBTB32_ENST00000262630.3_Nonsense_Mutation_p.E147*	p.E147*			Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	757	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		147					Q8WVP2	Nonsense_Mutation	SNP	ENST00000392197.2	37	c.439G>T	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	G	7.091	0.572239	0.13623	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	.	.	.	5.2	0.103	0.14526	.	0.463445	0.18365	N	0.143458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-2.4779	7.9708	0.30126	0.3984:0.0:0.6016:0.0	.	.	.	.	X	147	.	ENSP00000262630:E147X	E	+	1	0	ZBTB32	40897807	0.091000	0.21658	0.010000	0.14722	0.360000	0.29518	0.189000	0.17037	0.218000	0.20820	0.655000	0.94253	GAG		0.547	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383		41	217	1	0	1.57019e-19	1	1.75207e-19	41	217					T	36205967	G	T	36205967	4	4	79	1	0	0	0	0	0	1	0	0	17588	943	33	3	441	3	ZBTB32	19	36205967	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37222	36205967	22923016	19057	29374											
MLL4	9757	broad.mit.edu	37	chr19	36212526	36212526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgccaccacagccacaGctgcagccaccgccgtcacc	7	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36212526G>T	ENST00000222270.7	+	3	2277	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.Q759H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	759	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)										CACAGCCACAGCTGCAGCCAC	0.642																																						ENST00000222270.7																			0											c.(2275-2277)caG>caT									19	32	28					19																	36212526		2144	4260	6404	SO:0001583	missense	0							g.chr19:36212526G>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2277G>T	19.37:g.36212526G>T	ENSP00000222270:p.Gln759His					WBP7_ENST00000420124.1_Missense_Mutation_p.Q759H|KMT2B_ENST00000607650.1_RNA	p.Q759H	NM_014727.1	NP_055542.1					3	2277	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2277G>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939157	0.18281	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83755	-1.76;-1.76	5.02	-3.13	0.05266	.	0.264721	0.19987	N	0.101654	T	0.65365	0.2684	N	0.14661	0.345	0.09310	N	1	P	0.34462	0.454	B	0.34722	0.188	T	0.59495	-0.7444	10	0.49607	T	0.09	.	10.02	0.42037	0.6057:0.0:0.3943:0.0	.	759	Q9UMN6	MLL4_HUMAN	H	759	ENSP00000222270:Q759H;ENSP00000398837:Q759H	ENSP00000222270:Q759H	Q	+	3	2	AD000671.1	40904366	0.000000	0.05858	0.016000	0.15963	0.571000	0.35966	-0.882000	0.04174	-0.315000	0.08703	0.442000	0.29010	CAG		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		36	171	1	0	3.03874e-20	1	3.40186e-20	36	171					T	36212526	G	T	36212526	3	4	79	1	0	0	0	0	1	0	0	0	9664	962	34	3	2287	3	MLL4	19	36212526	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6559	36212526	22916457	19058	29375											
MLL4	9757	broad.mit.edu	37	chr19	36216437	36216437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cattctgcctggaggaggccGagcggcccctgccccagcat	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36216437G>A	ENST00000222270.7	+	12	3700	c.3700G>A	c.(3700-3702)Gag>Aag	p.E1234K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E1234K	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1234					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)										GGAGGAGGCCGAGCGGCCCCT	0.597																																						ENST00000222270.7																			0											c.(3700-3702)Gag>Aag									159	174	169					19																	36216437		2079	4209	6288	SO:0001583	missense	0							g.chr19:36216437G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3700G>A	19.37:g.36216437G>A	ENSP00000222270:p.Glu1234Lys					WBP7_ENST00000420124.1_Missense_Mutation_p.E1234K|KMT2B_ENST00000607650.1_RNA	p.E1234K	NM_014727.1	NP_055542.1					12	3700	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3700G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729734	0.69074	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.89875	-2.58;-2.58	5.54	5.54	0.83059	Zinc finger, PHD-finger (1);Zinc finger, PHD-type (1);	0.000000	0.45126	D	0.000384	D	0.93831	0.8027	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92254	0.5811	10	0.36615	T	0.2	.	18.4191	0.90582	0.0:0.0:1.0:0.0	.	1234	Q9UMN6	MLL4_HUMAN	K	1234	ENSP00000222270:E1234K;ENSP00000398837:E1234K	ENSP00000222270:E1234K	E	+	1	0	AD000671.1	40908277	1.000000	0.71417	0.888000	0.34837	0.981000	0.71138	9.077000	0.94016	2.884000	0.98904	0.655000	0.94253	GAG		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		250	1101	0	0	0	1	0	250	1101					A	36216437	G	A	36216437	3	1	79	1	0	0	0	0	1	0	0	0	9664	1059	37	1	3746	1	MLL4	19	36216437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3911	36216437	22912546	19059	29376											
MLL4	9757	broad.mit.edu	37	chr19	36220146	36220146	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggaagtcttcgaggagaaCgacggctccctcaagaatgt	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36220146C>T	ENST00000222270.7	+	22	4866	c.4866C>T	c.(4864-4866)aaC>aaT	p.N1622N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.N1622N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1622					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)										TCGAGGAGAACGACGGCTCCC	0.637																																						ENST00000222270.7																			0											c.(4864-4866)aaC>aaT									46	47	47					19																	36220146		2136	4243	6379	SO:0001819	synonymous_variant	0							g.chr19:36220146C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4866C>T	19.37:g.36220146C>T						WBP7_ENST00000420124.1_Silent_p.N1622N|KMT2B_ENST00000607650.1_RNA	p.N1622N	NM_014727.1	NP_055542.1					22	4866	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4866C>T	CCDS46055.1																																																																																				0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		18	58	0	0	0	1	0	18	58					T	36220146	C	T	36220146	2	4	79	1	0	0	0	0	0	0	0	1	9664	535	19	1		1	MLL4	19	36220146	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3709	36220146	22908837	19060	29377											
LIN37	126393	broad.mit.edu	37	chr19	36245052	36245052	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatgcagggcacccctgaCgatgaggtgagtatgccagg	16	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36245052C>T	ENST00000592984.1	-	0	1634				AC002398.12_ENST00000587767.1_RNA|AC002398.9_ENST00000591613.2_3'UTR|LIN37_ENST00000301159.9_Silent_p.D193D|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)			GCACCCCTGACGATGAGGTGA	0.642																																						ENST00000301159.9																			0				large_intestine(1)|lung(5)	6						c.(577-579)gaC>gaT		lin-37 homolog (C. elegans)							50	56	54					19																	36245052		2089	4213	6302	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245052C>T	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.36245052C>T						AC002398.9_ENST00000591613.2_3'UTR	p.D193D	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	943	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		193			Pro-rich.		O14551|Q6NVI3|Q96MG9	Silent	SNP	ENST00000592984.1	37	c.579C>T	CCDS12475.1																																																																																				0.642	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		58	244	0	0	0	1	0	58	244					T	36245052	C	T	36245052	1	4	79	0	1	0	0	0	0	0	0	0	8840	535	19	1		1	LIN37	19	36245052	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24906	36245052	22883931	19061	29378											
C19orf55	148137	broad.mit.edu	37	chr19	36253018	36253018	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggtggctgcagtctgactCtccagaccccagcagtcaaa	10	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36253018C>A	ENST00000544099.1	+	4	473	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y|C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y			Q2NL68	PRSR3_HUMAN		137										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)			CAGTCTGACTCTCCAGACCCC	0.582																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(409-411)tCt>tAt		chromosome 19 open reading frame 55							36	40	38					19																	36253018		1962	4171	6133	SO:0001583	missense	148137							g.chr19:36253018C>A																												ENST00000544099.1:c.410C>A	19.37:g.36253018C>A	ENSP00000467267:p.Ser137Tyr					C19orf55_ENST00000536950.1_Missense_Mutation_p.S137Y|C19orf55_ENST00000421853.2_Missense_Mutation_p.S37Y|C19orf55_ENST00000396908.4_Missense_Mutation_p.S137Y|C19orf55_ENST00000537459.1_Missense_Mutation_p.S137Y	p.S137Y			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	473	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		137					Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	ENST00000544099.1	37	c.410C>A		.	.	.	.	.	.	.	.	.	.	C	18.99	3.739653	0.69304	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.59	3.55	0.40652	.	0.191988	0.25885	N	0.027669	T	0.61173	0.2326	M	0.64997	1.995	0.09310	N	1	D;D;D	0.69078	0.994;0.997;0.997	P;D;D	0.80764	0.874;0.994;0.994	T	0.50709	-0.8796	10	0.62326	D	0.03	-2.4722	8.6048	0.33767	0.0:0.8937:0.0:0.1063	.	137;137;137	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	Y	52;137;137;52;52	ENSP00000394231:S52Y;ENSP00000380116:S137Y;ENSP00000301165:S137Y;ENSP00000440357:S52Y	ENSP00000301165:S137Y	S	+	2	0	C19orf55	40944858	0.000000	0.05858	0.004000	0.12327	0.583000	0.36354	0.394000	0.20834	1.266000	0.44231	0.650000	0.86243	TCT		0.582	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			38	161	1	0	7.04047e-22	1	7.94894e-22	38	161					A	36253018	C	A	36253018	3	1	79	1	0	0	0	0	1	0	0	0	1944	913	32	3	424	3	C19orf55	19	36253018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7966	36253018	22875965	19062	29379											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278174	36278174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacgcctcatggccctgGccctggctgagcgggctcag	14	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36278174G>A	ENST00000007510.4	+	21	2851	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	903					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						CATGGCCCTGGCCCTGGCTGA	0.692																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2707-2709)Gcc>Acc		Rho GTPase activating protein 33							21	26	24					19																	36278174		2195	4283	6478	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278174G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2707G>A	19.37:g.36278174G>A	ENSP00000007510:p.Ala903Thr					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.A767T|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A742T	p.A903T			O14559	RHG33_HUMAN			21	2851	+			903					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	17.15	3.316283	0.60524	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.27557	1.78;1.66;2.01	4.91	3.84	0.44239	.	0.314786	0.24016	N	0.042336	T	0.31482	0.0798	L	0.58101	1.795	0.32584	N	0.528092	B;B;B	0.18461	0.028;0.021;0.021	B;B;B	0.18561	0.016;0.022;0.015	T	0.40459	-0.9562	10	0.59425	D	0.04	.	12.694	0.56992	0.0:0.3178:0.6822:0.0	.	903;767;742	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	T	903;742;767	ENSP00000007510:A903T;ENSP00000320038:A742T;ENSP00000368227:A767T	ENSP00000007510:A903T	A	+	1	0	ARHGAP33	40970014	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.237000	0.58681	0.996000	0.38943	0.462000	0.41574	GCC		0.692	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		67	264	0	0	0	1	0	67	264					A	36278174	G	A	36278174	3	1	79	1	0	0	0	0	1	0	0	0	882	1203	42	2	2789	2	ARHGAP33	19	36278174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25156	36278174	22850809	19063	29380											
NPHS1	4868	broad.mit.edu	37	chr19	36332624	36332624	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcccctccatactgatgctGacaagttgaatgttggtttg	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36332624G>A	ENST00000378910.5	-	20	2807	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	NPHS1_ENST00000353632.6_Silent_p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	936	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)			TACTGATGCTGACAAGTTGAA	0.572																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2806-2808)gtC>gtT		nephrosis 1, congenital, Finnish type (nephrin)							158	119	133					19																	36332624		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36332624G>A		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2808C>T	19.37:g.36332624G>A						NPHS1_ENST00000353632.6_Silent_p.V936V	p.V936V	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		20	2807	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		936			Ig-like C2-type 8.		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.2808C>T	CCDS32996.1																																																																																				0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			28	177	0	0	0	1	0	28	177					A	36332624	G	A	36332624	2	1	79	1	0	0	0	0	0	0	0	1	10624	1277	45	2		2	NPHS1	19	36332624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54450	36332624	22796359	19064	29381											
NPHS1	4868	broad.mit.edu	37	chr19	36339215	36339215	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaaggcttcactgaaggCctcacatgtgagggtcagac	14	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339215C>T	ENST00000378910.5	-	10	1254	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	419	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)			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)			TCACTGAAGGCCTCACATGTG	0.592																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1255-1257)Gcc>Acc		nephrosis 1, congenital, Finnish type (nephrin)							114	103	107					19																	36339215		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339215C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1255G>A	19.37:g.36339215C>T	ENSP00000368190:p.Ala419Thr					NPHS1_ENST00000353632.6_Missense_Mutation_p.A419T	p.A419T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1254	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		419			Ig-like C2-type 4.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.1255G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067564	0.55539	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.91351	-2.83;-2.83	5.43	4.38	0.52667	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183078	0.46758	D	0.000271	D	0.95198	0.8443	M	0.82517	2.595	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.95525	0.8598	10	0.72032	D	0.01	-25.7883	13.8765	0.63655	0.0:0.8458:0.1542:0.0	.	419	O60500	NPHN_HUMAN	T	419	ENSP00000368190:A419T;ENSP00000343634:A419T	ENSP00000343634:A419T	A	-	1	0	NPHS1	41031055	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	5.341000	0.65964	1.259000	0.44117	-0.282000	0.10007	GCC		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			22	393	0	0	0	1	0	22	393					T	36339215	C	T	36339215	3	4	79	1	0	0	0	0	1	0	0	0	10624	739	26	2	2550	2	NPHS1	19	36339215	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6591	36339215	22789768	19065	29382											
NPHS1	4868	broad.mit.edu	37	chr19	36339963	36339963	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctgcgctccatggtcTtctggcctcacggtcatcac	10	15	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339963T>G	ENST00000378910.5	-	8	926	c.927A>C	c.(925-927)gaA>gaC	p.E309D	NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	309	Ig-like C2-type 3.				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)			CTCCATGGTCTTCTGGCCTCA	0.657																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(925-927)gaA>gaC		nephrosis 1, congenital, Finnish type (nephrin)							65	58	60					19																	36339963		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36339963T>G		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.927A>C	19.37:g.36339963T>G	ENSP00000368190:p.Glu309Asp					NPHS1_ENST00000353632.6_Missense_Mutation_p.E309D	p.E309D	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	926	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		309			Ig-like C2-type 3.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.927A>C	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787798	0.49997	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.78003	-1.14;-1.14	5.32	3.09	0.35607	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117636	0.56097	D	0.000033	T	0.80539	0.4642	L	0.57536	1.79	0.35805	D	0.823421	D	0.71674	0.998	D	0.63033	0.91	T	0.80004	-0.1564	10	0.42905	T	0.14	-17.3468	5.0005	0.14262	0.0:0.4743:0.0:0.5257	.	309	O60500	NPHN_HUMAN	D	309	ENSP00000368190:E309D;ENSP00000343634:E309D	ENSP00000343634:E309D	E	-	3	2	NPHS1	41031803	0.987000	0.35691	1.000000	0.80357	0.443000	0.32047	0.012000	0.13287	0.368000	0.24481	0.378000	0.23410	GAA		0.657	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			72	406	0	0	0	1	0	72	406					G	36339963	T	G	36339963	3	3	79	1	0	0	0	0	1	0	0	0	10624	1606	56	4	2886	4	NPHS1	19	36339963	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	748	36339963	22789020	19066	29383											
NPHS1	4868	broad.mit.edu	37	chr19	36340237	36340237	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctcatccaggcctggCcactcgatgacagggggtcc	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36340237C>T	ENST00000378910.5	-	7	740	c.741G>A	c.(739-741)tgG>tgA	p.W247*	NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	247	Ig-like C2-type 3.				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)			CCAGGCCTGGCCACTCGATGA	0.637																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(739-741)tgG>tgA		nephrosis 1, congenital, Finnish type (nephrin)							21	21	21					19																	36340237		2203	4297	6500	SO:0001587	stop_gained	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340237C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.741G>A	19.37:g.36340237C>T	ENSP00000368190:p.Trp247*					NPHS1_ENST00000353632.6_Nonsense_Mutation_p.W247*	p.W247*	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	740	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		247			Ig-like C2-type 3.		A6NDH2|C3RX61	Nonsense_Mutation	SNP	ENST00000378910.5	37	c.741G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	37	6.074847	0.97262	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	.	.	.	4.96	4.96	0.65561	.	0.000000	0.45126	D	0.000398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-12.0577	13.646	0.62281	0.0:1.0:0.0:0.0	.	.	.	.	X	247	.	ENSP00000343634:W247X	W	-	3	0	NPHS1	41032077	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.486000	0.35530	2.602000	0.87976	0.586000	0.80456	TGG		0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			7	179	0	0	0	1	0	7	179					T	36340237	C	T	36340237	4	4	79	1	0	0	0	0	0	1	0	0	10624	740	26	2	3076	2	NPHS1	19	36340237	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	274	36340237	22788746	19067	29384											
KIRREL2	84063	broad.mit.edu	37	chr19	36348369	36348369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggactaagagtgggctgGccctagggggccaaagggac	18	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36348369G>A	ENST00000360202.5	+	2	382	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	62	Ig-like C2-type 1.				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)			GAGTGGGCTGGCCCTAGGGGG	0.647																																						ENST00000360202.5																			0				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						c.(184-186)Gcc>Acc		kin of IRRE like 2 (Drosophila)							44	52	49					19																	36348369		2203	4298	6501	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36348369G>A	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.184G>A	19.37:g.36348369G>A	ENSP00000353331:p.Ala62Thr					KIRREL2_ENST00000586102.2_Missense_Mutation_p.A62T|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.A62T|KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.A62T	p.A62T	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	382	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		62			Ig-like C2-type 1.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.184G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061013	0.93846	.	.	ENSG00000126259	ENST00000262625;ENST00000360202;ENST00000341658	T;T	0.67171	-0.25;-0.25	5.35	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000215	T	0.75679	0.3882	L	0.58354	1.805	0.36210	D	0.85129	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.978	T	0.80520	-0.1346	10	0.87932	D	0	-14.889	9.3277	0.38003	0.0961:0.0:0.9039:0.0	.	62;62;62	F1T0I2;Q6UWL6;Q6UWL6-2	.;KIRR2_HUMAN;.	T	62	ENSP00000262625:A62T;ENSP00000353331:A62T	ENSP00000262625:A62T	A	+	1	0	KIRREL2	41040209	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.156000	0.71840	2.672000	0.90937	0.650000	0.86243	GCC		0.647	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		112	467	0	0	0	1	0	112	467					A	36348369	G	A	36348369	3	1	79	1	0	0	0	0	1	0	0	0	8355	1203	42	2	190	2	KIRREL2	19	36348369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8132	36348369	22780614	19068	29385											
KIRREL2	84063	broad.mit.edu	37	chr19	36349719	36349719	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgccctacccctgaattgCtgtggttccgagatggggtc	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36349719C>T	ENST00000360202.5	+	4	673	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	KIRREL2_ENST00000262625.7_Silent_p.L159L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000592409.1_Silent_p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	159	Ig-like C2-type 2.				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)			CCCTGAATTGCTGTGGTTCCG	0.597																																						ENST00000360202.5																			0				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						c.(475-477)Ctg>Ttg		kin of IRRE like 2 (Drosophila)							107	103	104					19																	36349719		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36349719C>T	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.475C>T	19.37:g.36349719C>T						KIRREL2_ENST00000586102.2_Silent_p.L159L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.L159L|KIRREL2_ENST00000347900.6_Silent_p.L109L|KIRREL2_ENST00000262625.7_Silent_p.L159L	p.L159L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	673	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		159			Ig-like C2-type 2.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.475C>T	CCDS12481.1																																																																																				0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		108	479	0	0	0	1	0	108	479					T	36349719	C	T	36349719	2	4	79	1	0	0	0	0	0	0	0	1	8355	796	28	2		2	KIRREL2	19	36349719	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1350	36349719	22779264	19069	29386											
KIRREL2	84063	broad.mit.edu	37	chr19	36351456	36351456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccggtgctcggggcccGcgggccaaggttagaggtcg	17	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36351456G>A	ENST00000360202.5	+	7	1013	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	272	Ig-like C2-type 3.				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)			CTCGGGGCCCGCGGGCCAAGG	0.652																																						ENST00000360202.5																			0				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						c.(814-816)cGc>cAc		kin of IRRE like 2 (Drosophila)							46	52	50					19																	36351456		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351456G>A	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.815G>A	19.37:g.36351456G>A	ENSP00000353331:p.Arg272His					KIRREL2_ENST00000586102.2_Missense_Mutation_p.R252H|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R272H|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R222H|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R272H	p.R272H	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1013	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		272			Ig-like C2-type 3.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.815G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	17.73	3.462092	0.63513	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.68903	-0.36;-0.14;-0.34	3.99	3.99	0.46301	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180262	0.27084	N	0.021010	T	0.59985	0.2234	N	0.17872	0.535	0.31437	N	0.672468	D;D;D;D;D	0.67145	0.983;0.979;0.992;0.996;0.996	P;P;P;P;P	0.59643	0.685;0.557;0.861;0.855;0.855	T	0.55062	-0.8199	10	0.06494	T	0.89	-10.5667	11.8642	0.52484	0.0:0.0:1.0:0.0	.	272;252;272;222;272	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	H	272;222;272;252	ENSP00000262625:R272H;ENSP00000345067:R222H;ENSP00000353331:R272H	ENSP00000262625:R272H	R	+	2	0	KIRREL2	41043296	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	2.235000	0.43044	2.257000	0.74773	0.444000	0.29173	CGC		0.652	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		115	431	0	0	0	1	0	115	431					A	36351456	G	A	36351456	3	1	79	1	0	0	0	0	1	0	0	0	8355	1087	38	1	841	1	KIRREL2	19	36351456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1737	36351456	22777527	19070	29387											
KIRREL2	84063	broad.mit.edu	37	chr19	36355551	36355551	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaagttccctaccccaggGccccattgtgcacactgacc	7	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	ENST00000360202.5	+	14	1925	c.1727G>A	c.(1726-1728)gGc>gAc	p.G576D	KIRREL2_ENST00000262625.7_Splice_Site_p.G576D|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Splice_Site_p.G526D|KIRREL2_ENST00000592409.1_Splice_Site_p.G541D	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	576					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)			CTACCCCAGGGCCCCATTGTG	0.597																																						ENST00000360202.5																			0				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						c.e14-1		kin of IRRE like 2 (Drosophila)							195	184	188					19																	36355551		2203	4300	6503	SO:0001630	splice_region_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36355551G>A	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.1726-1G>A	19.37:g.36355551G>A						KIRREL2_ENST00000586102.2_Splice_Site_p.G556_splice|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Splice_Site_p.G541_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.G526_splice|KIRREL2_ENST00000262625.7_Splice_Site_p.G576_splice	p.G576_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		14	1925	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		576					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Splice_Site	SNP	ENST00000360202.5	37	c.1725_splice	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855359	0.51376	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658;ENST00000270294	T;T;T	0.67698	-0.27;-0.04;-0.28	4.05	4.05	0.47172	.	0.410909	0.18096	N	0.151833	T	0.68943	0.3056	L	0.44542	1.39	0.37330	D	0.909922	P;D;P;D;D	0.63046	0.954;0.973;0.954;0.992;0.992	P;P;P;P;P	0.54544	0.476;0.676;0.476;0.755;0.676	T	0.74166	-0.3753	10	0.54805	T	0.06	-5.1472	12.4423	0.55631	0.0:0.0:1.0:0.0	.	576;556;576;526;576	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	D	576;526;576;556;87	ENSP00000262625:G576D;ENSP00000345067:G526D;ENSP00000353331:G576D	ENSP00000262625:G576D	G	+	2	0	KIRREL2	41047391	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	2.618000	0.46393	2.221000	0.72209	0.313000	0.20887	GGC		0.597	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	Missense_Mutation	61	206	0	0	0	1	0	61	206					A	36355551	G	A	36355551	5	1	79	1	0	0	0	0	0	0	1	0	8355	1217	42	2	1781	2	KIRREL2	19	36355551	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4095	36355551	22773432	19071	29388											
APLP1	84063	broad.mit.edu	37	chr19	36360568	36360568	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttccacttccatccaGgccccggggtcggcccaggt	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36360568G>T	ENST00000360202.5	+	0	2942				APLP1_ENST00000537454.2_Splice_Site|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.Q43H|APLP1_ENST00000221891.4_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCCATCCAGGCCCCGGGGT	0.692																																						ENST00000586861.1																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(127-129)caG>caT		amyloid beta (A4) precursor-like protein 1							15	19	18					19																	36360568		2201	4297	6498	SO:0001628	intergenic_variant	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36360568G>T	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			19.37:g.36360568G>T						APLP1_ENST00000537454.2_Splice_Site|APLP1_ENST00000221891.4_Splice_Site	p.Q43H			P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	194	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		49					C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.129G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422922	0.43020	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.778	0.63066	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	APLP1	41052408	1.000000	0.71417	0.920000	0.36463	0.463000	0.32649	4.287000	0.59001	2.309000	0.77851	0.561000	0.74099	.		0.692	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		53	140	1	0	2.27459e-33	1	2.69573e-33	53	140					T	36360568	G	T	36360568	1	4	79	0	1	0	0	0	0	0	0	0	778	1014	35	3		3	APLP1	19	36360568	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5017	36360568	22768415	19072	29389											
APLP1	333	broad.mit.edu	37	chr19	36362206	36362206	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcaccaggagcgcatGgaccaatgtgagagttcaac	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36362206G>T	ENST00000221891.4	+	4	684	c.492G>T	c.(490-492)atG>atT	p.M164I	APLP1_ENST00000537454.2_Missense_Mutation_p.M125I|NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	164	Copper-binding. {ECO:0000250}.				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)			AGGAGCGCATGGACCAATGTG	0.627																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(490-492)atG>atT		amyloid beta (A4) precursor-like protein 1							83	70	75					19																	36362206		2203	4299	6502	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362206G>T	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.492G>T	19.37:g.36362206G>T	ENSP00000221891:p.Met164Ile					APLP1_ENST00000537454.2_Missense_Mutation_p.M125I|APLP1_ENST00000586861.1_Missense_Mutation_p.M158I	p.M164I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	684	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		164			Copper-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.492G>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.867486	0.91587	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94497	-3.34;-3.44	4.86	4.86	0.63082	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.56097	D	0.000027	D	0.96664	0.8911	M	0.72894	2.215	0.54753	D	0.999987	P;P;D;D	0.58620	0.917;0.901;0.979;0.983	P;B;D;D	0.72338	0.857;0.398;0.961;0.977	D	0.96868	0.9637	10	0.56958	D	0.05	-12.826	15.4941	0.75634	0.0:0.0:1.0:0.0	.	158;125;164;164	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	I	125;164	ENSP00000441501:M125I;ENSP00000221891:M164I	ENSP00000221891:M164I	M	+	3	0	APLP1	41054046	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.620000	0.67736	2.257000	0.74773	0.479000	0.44913	ATG		0.627	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		19	82	1	0	2.94398e-08	1	3.0722e-08	19	82					T	36362206	G	T	36362206	3	4	79	1	0	0	0	0	1	0	0	0	778	1348	47	3	506	3	APLP1	19	36362206	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1638	36362206	22766777	19073	29390											
APLP1	333	broad.mit.edu	37	chr19	36363452	36363452	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atgcctggggaaatcagtgaGcacgaggggttcctgagggc	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36363452G>T	ENST00000221891.4	+	7	1110	c.918G>T	c.(916-918)gaG>gaT	p.E306D	APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	306					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)			AAATCAGTGAGCACGAGGGGT	0.577																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(916-918)gaG>gaT		amyloid beta (A4) precursor-like protein 1							150	146	147					19																	36363452		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36363452G>T	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.918G>T	19.37:g.36363452G>T	ENSP00000221891:p.Glu306Asp					APLP1_ENST00000537454.2_Missense_Mutation_p.E267D|APLP1_ENST00000586861.1_Missense_Mutation_p.E300D	p.E306D	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	1110	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		306					O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.918G>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108567	0.77096	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.59638	0.25;0.25	4.89	3.84	0.44239	Amyloidogenic glycoprotein, E2 domain (2);	0.000000	0.48286	D	0.000197	T	0.71829	0.3386	M	0.77486	2.375	0.44282	D	0.99714	D;D;D;D	0.89917	0.979;1.0;0.998;0.999	P;D;D;D	0.80764	0.837;0.994;0.915;0.949	T	0.73914	-0.3832	10	0.66056	D	0.02	-23.1084	7.9565	0.30047	0.1894:0.0:0.8106:0.0	.	300;267;306;306	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	D	267;306	ENSP00000441501:E267D;ENSP00000221891:E306D	ENSP00000221891:E306D	E	+	3	2	APLP1	41055292	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.027000	0.30115	2.270000	0.75569	0.462000	0.41574	GAG		0.577	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		27	714	1	0	6.32553e-13	1	6.81307e-13	27	714					T	36363452	G	T	36363452	3	4	79	1	0	0	0	0	1	0	0	0	778	962	34	3	944	3	APLP1	19	36363452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1246	36363452	22765531	19074	29391											
NFKBID	84807	broad.mit.edu	37	chr19	36387361	36387361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtccctgatggtcagcgGcattgggctctgctcccagg	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36387361G>A	ENST00000396901.1	-	7	911	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V|NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	113					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						ATGGTCAGCGGCATTGGGCTC	0.627																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(337-339)gCc>gTc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							57	66	63					19																	36387361		2047	4191	6238	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36387361G>A	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.338C>T	19.37:g.36387361G>A	ENSP00000380109:p.Ala113Val					NFKBID_ENST00000352614.2_Missense_Mutation_p.A265V|NFKBID_ENST00000606253.1_Missense_Mutation_p.A113V	p.A113V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			7	911	-			113					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.338C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398000	0.25205	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.67865	-0.29;-0.29	4.81	3.74	0.42951	Ankyrin repeat-containing domain (4);	0.119358	0.56097	D	0.000032	T	0.59932	0.2230	L	0.39147	1.195	0.80722	D	1	B;B	0.27416	0.178;0.066	B;B	0.34418	0.182;0.053	T	0.58814	-0.7570	10	0.49607	T	0.09	.	11.8805	0.52574	0.0:0.0:0.8239:0.1761	.	265;113	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	V	265;113	ENSP00000252985:A265V;ENSP00000380109:A113V	ENSP00000252985:A265V	A	-	2	0	NFKBID	41079201	0.996000	0.38824	0.886000	0.34754	0.625000	0.37756	3.571000	0.53841	0.958000	0.37956	0.561000	0.74099	GCC		0.627	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		39	411	0	0	0	1	0	39	411					A	36387361	G	A	36387361	3	1	79	1	0	0	0	0	1	0	0	0	10421	1203	42	2	627	2	NFKBID	19	36387361	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23909	36387361	22741622	19075	29392											
LRFN3	79414	broad.mit.edu	37	chr19	36435681	36435681	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcggcgtcatcgtagcCtcggtactggtcttcatctt	12	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36435681C>A	ENST00000588831.1	+	4	2701	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A	LRFN3_ENST00000246529.3_Silent_p.A549A|AF038458.3_ENST00000592518.1_lincRNA			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	549					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCATCGTAGCCTCGGTACTGG	0.667																																						ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1645-1647)gcC>gcA		leucine rich repeat and fibronectin type III domain containing 3							41	29	33					19																	36435681		2203	4300	6503	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36435681C>A	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1647C>A	19.37:g.36435681C>A						LRFN3_ENST00000246529.3_Silent_p.A549A	p.A549A			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	2701	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		549					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.1647C>A	CCDS12483.1																																																																																				0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		35	129	1	0	3.90053e-15	1	4.25374e-15	35	129					A	36435681	C	A	36435681	2	1	79	1	0	0	0	0	0	0	0	1	8977	668	24	3		3	LRFN3	19	36435681	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48320	36435681	22693302	19076	29393											
ALKBH6	84964	broad.mit.edu	37	chr19	36501912	36501912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagccatgggggcagccGctcaggaaccatccctcggg	15	14	1	0	rs149341422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36501912G>A	ENST00000252984.7	-	6	372	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ALKBH6_ENST00000486389.1_Missense_Mutation_p.R51W|ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000495116.2_Intron|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000340477.5_5'Flank|SYNE4_ENST00000324444.3_5'Flank|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGCAGCCGCTCAGGAACC	0.597																																						ENST00000486389.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9						c.(151-153)Cgg>Tgg		alkB, alkylation repair homolog 6 (E. coli)		G	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	33	28	29		304,304	3	1	19	dbSNP_134	29	0,8600		0,0,4300	no	missense,missense	ALKBH6	NM_032878.3,NM_198867.1	101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	102/267,102/162	36501912	2,13004	2203	4300	6503	SO:0001583	missense	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501912G>A	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"Alkylation repair homologs"	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.220C>T	19.37:g.36501912G>A	ENSP00000252984:p.Arg74Trp					ALKBH6_ENST00000485128.1_Missense_Mutation_p.R74W|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000378875.3_Missense_Mutation_p.R102W|ALKBH6_ENST00000252984.7_Missense_Mutation_p.R74W|AC002116.8_ENST00000473572.2_RNA	p.R51W			Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		4	899	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		74					A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37	c.151C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.068299	0.76301	4.54E-4	0.0	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.30448	1.53;1.53;1.53	5.25	2.96	0.34315	.	.	.	.	.	T	0.35219	0.0924	N	0.24115	0.695	0.30420	N	0.778241	D;D;D;D	0.76494	0.993;0.999;0.998;0.999	P;P;P;P	0.59948	0.533;0.866;0.849;0.825	T	0.27434	-1.0074	9	0.72032	D	0.01	.	10.652	0.45653	0.0:0.0:0.6546:0.3454	.	74;95;102;74	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	W	102;74;74;74	ENSP00000368152:R102W;ENSP00000436742:R74W;ENSP00000252984:R74W	ENSP00000252984:R74W	R	-	1	2	ALKBH6	41193752	0.061000	0.20836	0.980000	0.43619	0.994000	0.84299	1.723000	0.38053	1.169000	0.42739	0.591000	0.81541	CGG		0.597	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		34	94	0	0	0	1	0	34	94					A	36501912	G	A	36501912	3	1	79	1	0	0	0	0	1	0	0	0	531	1086	38	1	508	1	ALKBH6	19	36501912	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66231	36501912	22627071	19077	29394											
CLIP3	25999	broad.mit.edu	37	chr19	36507083	36507083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactgcatctccgccctcaGcatccaggggaaccagcagc	10	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36507083G>A	ENST00000360535.4	-	14	1848	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	ALKBH6_ENST00000486389.1_5'Flank|ALKBH6_ENST00000485128.1_5'Flank|ALKBH6_ENST00000495116.2_5'Flank|ALKBH6_ENST00000252984.7_5'Flank|CLIP3_ENST00000593074.1_Silent_p.L541L|AC002116.8_ENST00000473572.2_RNA|AC002116.7_ENST00000586962.1_RNA|ALKBH6_ENST00000378875.3_5'Flank	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	541	GoLD.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGCCCTCAGCATCCAGGGG	0.607																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1621-1623)Ctg>Ttg		CAP-GLY domain containing linker protein 3							107	87	94					19																	36507083		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36507083G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1621C>T	19.37:g.36507083G>A						AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.L541L	p.L541L	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		14	1848	-	Esophageal squamous(110;0.162)		541			GoLD.		A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.1621C>T	CCDS12486.1																																																																																				0.607	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		36	143	0	0	0	1	0	36	143					A	36507083	G	A	36507083	2	1	79	1	0	0	0	0	0	0	0	1	3543	962	34	2		2	CLIP3	19	36507083	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5171	36507083	22621900	19078	29395											
CLIP3	25999	broad.mit.edu	37	chr19	36508882	36508882	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagagatggggatgatggggTcttcttcttgcctaagggta	15	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36508882T>C	ENST00000360535.4	-	10	1422	c.1195A>G	c.(1195-1197)Acc>Gcc	p.T399A	CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	399					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GATGATGGGGTCTTCTTCTTG	0.597																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1195-1197)Acc>Gcc		CAP-GLY domain containing linker protein 3							68	68	68					19																	36508882		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508882T>C	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1195A>G	19.37:g.36508882T>C	ENSP00000353732:p.Thr399Ala					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.T399A	p.T399A	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1422	-	Esophageal squamous(110;0.162)		399					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1195A>G	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	T	6.363	0.435008	0.12045	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.71461	-0.57	4.77	0.103	0.14526	Cytoskeleton-associated protein, Gly-rich domain (1);	0.627025	0.15831	N	0.242503	T	0.40145	0.1105	N	0.08118	0	0.21802	N	0.999539	B	0.10296	0.003	B	0.06405	0.002	T	0.17531	-1.0366	10	0.11794	T	0.64	-4.0832	3.6991	0.08375	0.3297:0.0:0.4571:0.2133	.	399	Q96DZ5	CLIP3_HUMAN	A	399;281;375	ENSP00000353732:T399A	ENSP00000353732:T399A	T	-	1	0	CLIP3	41200722	0.990000	0.36364	0.132000	0.22025	0.937000	0.57800	0.774000	0.26675	-0.164000	0.10927	-0.527000	0.04329	ACC		0.597	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		8	226	0	0	0	1	0	8	226					C	36508882	T	C	36508882	3	2	79	1	0	0	0	0	1	0	0	0	3543	1667	58	4	468	4	CLIP3	19	36508882	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1799	36508882	22620101	19079	29396											
CLIP3	25999	broad.mit.edu	37	chr19	36517067	36517067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accctcagcgcagggttggcGccgtgctccagcaaacattt	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517067G>A	ENST00000360535.4	-	6	890	c.663C>T	c.(661-663)ggC>ggT	p.G221G	CLIP3_ENST00000593074.1_Silent_p.G221G|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	221					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)	p.G221G(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGGTTGGCGCCGTGCTCCA	0.637																																						ENST00000360535.4																			1	Substitution - coding silent(1)	p.G221G(1)	lung(1)	cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(661-663)ggC>ggT		CAP-GLY domain containing linker protein 3							46	43	44					19																	36517067		2203	4300	6503	SO:0001819	synonymous_variant	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36517067G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.663C>T	19.37:g.36517067G>A						AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.G221G	p.G221G	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	890	-	Esophageal squamous(110;0.162)		221					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	ENST00000360535.4	37	c.663C>T	CCDS12486.1																																																																																				0.637	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		67	215	0	0	0	1	0	67	215					A	36517067	G	A	36517067	2	1	79	1	0	0	0	0	0	0	0	1	3543	1074	38	1		1	CLIP3	19	36517067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8185	36517067	22611916	19080	29397											
CLIP3	25999	broad.mit.edu	37	chr19	36517490	36517490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagggctctcctcctcacctCgcggcctcgcacccttcagc	8	21	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517490C>T	ENST00000360535.4	-	5	787	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	CLIP3_ENST00000593074.1_Missense_Mutation_p.R187Q|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	187					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCTCACCTCGCGGCCTCGC	0.667																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(559-561)cGa>cAa		CAP-GLY domain containing linker protein 3							43	41	42					19																	36517490		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36517490C>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.560G>A	19.37:g.36517490C>T	ENSP00000353732:p.Arg187Gln					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R187Q	p.R187Q	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	787	-	Esophageal squamous(110;0.162)		187					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.560G>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580515	0.65992	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.52983	0.64	4.41	4.41	0.53225	Ankyrin repeat-containing domain (4);	0.251724	0.37715	N	0.001976	T	0.25680	0.0625	N	0.25485	0.75	0.38366	D	0.944743	P	0.47604	0.898	B	0.32533	0.147	T	0.11155	-1.0599	10	0.28530	T	0.3	-13.0204	8.1798	0.31305	0.0:0.8928:0.0:0.1071	.	187	Q96DZ5	CLIP3_HUMAN	Q	187;69;163	ENSP00000353732:R187Q	ENSP00000353732:R187Q	R	-	2	0	CLIP3	41209330	0.970000	0.33590	0.634000	0.29324	0.830000	0.47004	1.817000	0.39002	2.279000	0.76181	0.455000	0.32223	CGA		0.667	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		41	174	0	0	0	1	0	41	174					T	36517490	C	T	36517490	3	4	79	1	0	0	0	0	1	0	0	0	3543	884	31	1	1123	1	CLIP3	19	36517490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	423	36517490	22611493	19081	29398											
CLIP3	25999	broad.mit.edu	37	chr19	36517509	36517509	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgcggcctcgcacccttcaGcagcacacgcacgaggtcgg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517509G>T	ENST00000360535.4	-	5	768	c.541C>A	c.(541-543)Ctg>Atg	p.L181M	CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	181					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACCCTTCAGCAGCACACGC	0.677																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(541-543)Ctg>Atg		CAP-GLY domain containing linker protein 3							54	48	50					19																	36517509		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36517509G>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"Ankyrin repeat domain containing"	24314	protein-coding gene	gene with protein product	"CLIP-170-related", "restin-like 1"	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.541C>A	19.37:g.36517509G>T	ENSP00000353732:p.Leu181Met					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.L181M	p.L181M	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	768	-	Esophageal squamous(110;0.162)		181					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.541C>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160054	0.78226	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.72505	-0.66	4.59	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.83459	0.5259	M	0.87456	2.885	0.49687	D	0.999814	D	0.76494	0.999	D	0.87578	0.998	D	0.84463	0.0595	10	0.54805	T	0.06	-9.9424	8.5079	0.33199	0.1034:0.0:0.8966:0.0	.	181	Q96DZ5	CLIP3_HUMAN	M	181;63;157	ENSP00000353732:L181M	ENSP00000353732:L181M	L	-	1	2	CLIP3	41209349	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.996000	0.49449	2.382000	0.81193	0.455000	0.32223	CTG		0.677	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		30	196	1	0	9.93527e-08	1	1.03436e-07	30	196					T	36517509	G	T	36517509	3	4	79	1	0	0	0	0	1	0	0	0	3543	962	34	3	1142	3	CLIP3	19	36517509	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19	36517509	22611474	19082	29399											
WDR62	284403	broad.mit.edu	37	chr19	36590347	36590347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggccttccacgccaagcGcagctaccagccccacggcc	9	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36590347G>A	ENST00000270301.7	+	22	2567	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	WDR62_ENST00000401500.2_Missense_Mutation_p.R856H			O43379	WDR62_HUMAN	WD repeat domain 62	856					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)			CACGCCAAGCGCAGCTACCAG	0.622																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2566-2568)cGc>cAc		WD repeat domain 62							35	33	34					19																	36590347		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36590347G>A	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.2567G>A	19.37:g.36590347G>A	ENSP00000270301:p.Arg856His					WDR62_ENST00000270301.7_Missense_Mutation_p.R856H	p.R856H	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		22	2602	+	Esophageal squamous(110;0.162)		856					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2567G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994775	0.54041	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.47177	0.85;0.85	5.31	3.19	0.36642	.	0.319061	0.27223	N	0.020349	T	0.40040	0.1101	M	0.67953	2.075	0.80722	D	1	B;B	0.32893	0.389;0.175	B;B	0.27796	0.083;0.023	T	0.33574	-0.9863	10	0.42905	T	0.14	-17.2774	7.2465	0.26125	0.1954:0.0:0.8046:0.0	.	856;856	O43379-4;O43379	.;WDR62_HUMAN	H	856	ENSP00000384792:R856H;ENSP00000270301:R856H	ENSP00000270301:R856H	R	+	2	0	WDR62	41282187	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.029000	0.41098	1.243000	0.43853	0.655000	0.94253	CGC		0.622	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		61	298	0	0	0	1	0	61	298					A	36590347	G	A	36590347	3	1	79	1	0	0	0	0	1	0	0	0	17367	1087	38	1	2653	1	WDR62	19	36590347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72838	36590347	22538636	19083	29400											
CAPNS1	826	broad.mit.edu	37	chr19	36636953	36636953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccaggtgcctttgaggcaGcaggtatggctggcagggac	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36636953G>A	ENST00000246533.3	+	8	1199	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	201	EF-hand 3. {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)			CTTTGAGGCAGCAGGTATGGC	0.572																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)	ENST00000246533.3																			0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(601-603)Gca>Aca		calpain, small subunit 1							160	157	158					19																	36636953		2203	4300	6503	SO:0001583	missense	826				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:36636953G>A	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.601G>A	19.37:g.36636953G>A	ENSP00000246533:p.Ala201Thr					CAPNS1_ENST00000589146.1_Missense_Mutation_p.A27T|CAPNS1_ENST00000588815.1_Missense_Mutation_p.A201T|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.A211T|CAPNS1_ENST00000587718.1_Missense_Mutation_p.A201T|CAPNS1_ENST00000590874.1_Missense_Mutation_p.A171T	p.A201T	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	1199	+	Esophageal squamous(110;0.162)		201			EF-hand 3.		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	ENST00000246533.3	37	c.601G>A	CCDS12489.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.324394	0.81580	.	.	ENSG00000126247	ENST00000246533	T	0.47869	0.83	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72494	-0.4276	10	0.72032	D	0.01	.	16.5532	0.84477	0.0:0.0:1.0:0.0	.	201	P04632	CPNS1_HUMAN	T	201	ENSP00000246533:A201T	ENSP00000246533:A201T	A	+	1	0	CAPNS1	41328793	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	8.821000	0.92009	2.576000	0.86940	0.561000	0.74099	GCA		0.572	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457411.2			208	900	0	0	0	1	0	208	900					A	36636953	G	A	36636953	3	1	79	1	0	0	0	0	1	0	0	0	2640	971	34	2	627	2	CAPNS1	19	36636953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46606	36636953	22492030	19084	29401											
ZNF565	147929	broad.mit.edu	37	chr19	36673443	36673443	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccacactctctacattcGtaaggtttgataccaggatg	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36673443G>A	ENST00000355114.5	-	5	2271	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF565_ENST00000304116.5_Silent_p.Y475Y|ZNF565_ENST00000392173.2_Silent_p.Y475Y			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTCTACATTCGTAAGGTTTGA	0.418																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(1543-1545)taC>taT		zinc finger protein 565							107	96	100					19																	36673443		2203	4300	6503	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673443G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1545C>T	19.37:g.36673443G>A						ZNF565_ENST00000392173.2_Silent_p.Y475Y|ZNF565_ENST00000304116.5_Silent_p.Y475Y	p.Y515Y			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	2271	-	Esophageal squamous(110;0.162)		475					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.1545C>T																																																																																					0.418	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		51	231	0	0	0	1	0	51	231					A	36673443	G	A	36673443	2	1	79	1	0	0	0	0	0	0	0	1	18049	1140	40	1		1	ZNF565	19	36673443	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36490	36673443	22455540	19085	29402											
ZFP14	57677	broad.mit.edu	37	chr19	36831798	36831798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cattccttacattcatagagCttttcagcagtatgaagtct	6	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36831798C>A	ENST00000270001.7	-	5	1045	c.930G>T	c.(928-930)aaG>aaT	p.K310N		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	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)|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)					ATTCATAGAGCTTTTCAGCAG	0.418																																						ENST00000270001.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26						c.(928-930)aaG>aaT		ZFP14 zinc finger protein							98	101	100					19																	36831798		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831798C>A	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.930G>T	19.37:g.36831798C>A	ENSP00000270001:p.Lys310Asn						p.K310N	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN			5	1045	-	Esophageal squamous(110;0.162)		310					A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.930G>T	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	14.08	2.428675	0.43122	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26067	1.76	3.92	-2.22	0.06952	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000215	T	0.38081	0.1027	M	0.70787	2.145	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.65987	0.94;0.94	T	0.28681	-1.0036	10	0.87932	D	0	.	5.1856	0.15182	0.1533:0.2845:0.0:0.5622	.	310;310	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	N	310	ENSP00000270001:K310N	ENSP00000270001:K310N	K	-	3	2	ZFP14	41523638	0.022000	0.18835	0.988000	0.46212	0.970000	0.65996	-0.718000	0.04980	-0.155000	0.11098	-0.311000	0.09066	AAG		0.418	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		90	398	1	0	5.95195e-44	1	7.27654e-44	90	398					A	36831798	C	A	36831798	3	1	79	1	0	0	0	0	1	0	0	0	17692	796	28	3	675	3	ZFP14	19	36831798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	158355	36831798	22297185	19086	29403											
ZFP82	284406	broad.mit.edu	37	chr19	36884325	36884325	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcattcatagagcctgtcaGcactattaagcttctgatgc	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36884325G>T	ENST00000392161.3	-	5	1159	c.917C>A	c.(916-918)gCt>gAt	p.A306D	ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGCCTGTCAGCACTATTAAG	0.443																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(916-918)gCt>gAt		ZFP82 zinc finger protein							138	137	137					19																	36884325		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884325G>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.917C>A	19.37:g.36884325G>T	ENSP00000431265:p.Ala306Asp					ZFP82_ENST00000392171.1_Missense_Mutation_p.A306D	p.A306D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1159	-			306					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.917C>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211222	0.58343	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.14516	2.5;2.5	4.15	1.73	0.24493	Zinc finger, C2H2 (1);	0.374530	0.19582	N	0.110835	T	0.11537	0.0281	N	0.04043	-0.29	0.29207	N	0.874812	P	0.50528	0.936	P	0.59424	0.857	T	0.04307	-1.0961	10	0.87932	D	0	.	6.202	0.20581	0.1084:0.2875:0.6041:0.0	.	306	Q8N141	ZFP82_HUMAN	D	306	ENSP00000431265:A306D;ENSP00000446080:A306D	ENSP00000431265:A306D	A	-	2	0	ZFP82	41576165	0.000000	0.05858	0.997000	0.53966	0.980000	0.70556	0.338000	0.19858	1.064000	0.40671	0.655000	0.94253	GCT		0.443	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		106	501	1	0	1.04275e-50	1	1.2925e-50	106	501					T	36884325	G	T	36884325	3	4	79	1	0	0	0	0	1	0	0	0	17706	971	34	3	685	3	ZFP82	19	36884325	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52527	36884325	22244658	19087	29404											
ZNF566	84924	broad.mit.edu	37	chr19	36940724	36940724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaataccaattgattgaaatGtcccccctgagagccgagtt	9	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36940724G>A	ENST00000434377.2	-	5	493	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y|ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y|ZNF566_ENST00000454319.1_Missense_Mutation_p.H139Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)					TGATTGAAATGTCCCCCCTGA	0.398																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(415-417)Cat>Tat		zinc finger protein 566							163	162	162					19																	36940724		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940724G>A	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.412C>T	19.37:g.36940724G>A	ENSP00000415520:p.His138Tyr					ZNF566_ENST00000392170.2_Missense_Mutation_p.H139Y|ZNF566_ENST00000424129.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000434377.2_Missense_Mutation_p.H138Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H34Y	p.H139Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			5	549	-	Esophageal squamous(110;0.162)		138					B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.415C>T	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.848285	0.00067	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129;ENST00000452939;ENST00000427002	T;T;T;T;T;T	0.05717	3.54;3.54;3.54;3.54;3.4;6.02	3.72	2.66	0.31614	.	1.022170	0.07830	N	0.961247	T	0.05181	0.0138	L	0.39514	1.22	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.09377	0.001;0.004	T	0.46762	-0.9168	10	0.02654	T	1	.	6.6291	0.22847	0.0:0.2007:0.5923:0.207	.	139;138	B7ZL95;Q969W8	.;ZN566_HUMAN	Y	139;138;139;138;138;139	ENSP00000394207:H139Y;ENSP00000415520:H138Y;ENSP00000376010:H139Y;ENSP00000401259:H138Y;ENSP00000411526:H138Y;ENSP00000400651:H139Y	ENSP00000376010:H139Y	H	-	1	0	ZNF566	41632564	0.000000	0.05858	0.035000	0.18076	0.288000	0.27193	0.123000	0.15708	1.117000	0.41842	0.555000	0.69702	CAT		0.398	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		15	984	0	0	0	1	0	15	984					A	36940724	G	A	36940724	3	1	79	1	0	0	0	0	1	0	0	0	18050	1377	48	2	848	2	ZNF566	19	36940724	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56399	36940724	22188259	19088	29405											
ZNF260	339324	broad.mit.edu	37	chr19	37005025	37005025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgtgcagagcaagggttgaGaactgagaaaaggctttccc	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005025G>T	ENST00000523638.1	-	3	2237	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L	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	372					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)					CAAGGGTTGAGAACTGAGAAA	0.423																																						ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(1114-1116)ttC>ttA		zinc finger protein 260							120	109	112					19																	37005025		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005025G>T	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.1116C>A	19.37:g.37005025G>T	ENSP00000429803:p.Phe372Leu					ZNF260_ENST00000588993.1_Missense_Mutation_p.F372L|ZNF260_ENST00000592282.1_Missense_Mutation_p.F372L|ZNF260_ENST00000593142.1_Missense_Mutation_p.F372L	p.F372L	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	2237	-	Esophageal squamous(110;0.162)		372					Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.1116C>A	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	G	5.310	0.242476	0.10077	.	.	ENSG00000254004	ENST00000523638	T	0.59083	0.29	4.17	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	N	0.03294	-0.36	0.09310	N	0.999996	B	0.34015	0.435	B	0.32393	0.145	T	0.07028	-1.0794	9	0.20046	T	0.44	.	11.7824	0.52021	0.0:0.1799:0.8201:0.0	.	372	Q3ZCT1	ZN260_HUMAN	L	372	ENSP00000429803:F372L	ENSP00000429803:F372L	F	-	3	2	ZNF260	41696865	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-2.041000	0.01415	2.286000	0.76751	0.561000	0.74099	TTC		0.423	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		97	445	1	0	4.00701e-44	1	4.89994e-44	97	445					T	37005025	G	T	37005025	3	4	79	1	0	0	0	0	1	0	0	0	17855	933	33	3	126	3	ZNF260	19	37005025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64301	37005025	22123958	19089	29406											
ZNF260	339324	broad.mit.edu	37	chr19	37005586	37005586	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagggcttctttccagtatgGatgttctgatgtttaatgag	11	5	2	2	rs575693709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005586G>T	ENST00000523638.1	-	3	1676	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF260_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I	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	185					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)					TTCCAGTATGGATGTTCTGAT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22638	0.001		0.0	False		,,,				2504	0.0					ENST00000523638.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15						c.(553-555)atC>atA		zinc finger protein 260							169	171	170					19																	37005586		2203	4300	6503	SO:0001819	synonymous_variant	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005586G>T	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.555C>A	19.37:g.37005586G>T						ZNF260_ENST00000588993.1_Silent_p.I185I|ZNF260_ENST00000592282.1_Silent_p.I185I|ZNF260_ENST00000593142.1_Silent_p.I185I	p.I185I	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN			3	1676	-	Esophageal squamous(110;0.162)		185					Q0VF43	Silent	SNP	ENST00000523638.1	37	c.555C>A	CCDS33003.1																																																																																				0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		28	820	1	0	9.39395e-14	1	1.01619e-13	28	820					T	37005586	G	T	37005586	2	4	79	1	0	0	0	0	0	0	0	1	17855	1164	41	3		3	ZNF260	19	37005586	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	561	37005586	22123397	19090	29407											
ZNF382	84911	broad.mit.edu	37	chr19	37117875	37117875	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtatcgattgtgggaAgtccttccgccagaaggcca	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37117875A>C	ENST00000292928.2	+	5	1189	c.1076A>C	c.(1075-1077)aAg>aCg	p.K359T	ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.K358T|ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	359	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)			GATTGTGGGAAGTCCTTCCGC	0.478																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1072-1074)aAg>aCg		zinc finger protein 382							77	79	79					19																	37117875		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117875A>C	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.1076A>C	19.37:g.37117875A>C	ENSP00000292928:p.Lys359Thr					ZNF382_ENST00000423582.1_Missense_Mutation_p.K310T|ZNF382_ENST00000292928.2_Missense_Mutation_p.K359T|ZNF382_ENST00000439428.1_Missense_Mutation_p.K358T	p.K358T			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2568	+	Esophageal squamous(110;0.198)		359			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1073A>C	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843785	0.71488	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000477	T	0.56108	0.1963	M	0.89534	3.04	0.39365	D	0.965996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.988;0.988;0.972	T	0.67169	-0.5738	10	0.87932	D	0	.	12.0011	0.53230	1.0:0.0:0.0:0.0	.	358;358;359	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	T	310;359;358;358	ENSP00000389722:K310T;ENSP00000292928:K359T;ENSP00000407593:K358T;ENSP00000410113:K358T	ENSP00000292928:K359T	K	+	2	0	ZNF382	41809715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.683000	0.61679	2.007000	0.58848	0.482000	0.46254	AAG		0.478	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		25	380	0	0	0	1	0	25	380					C	37117875	A	C	37117875	3	2	79	1	0	0	0	0	1	0	0	0	17926	72	3	4	1086	4	ZNF382	19	37117875	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112289	37117875	22011108	19091	29408											
ZNF382	84911	broad.mit.edu	37	chr19	37118220	37118220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaagtccttccGccagaaggcaatcctcactg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118220G>A	ENST00000292928.2	+	5	1534	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ZNF382_ENST00000423582.1_Missense_Mutation_p.R425H|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.R473H|ZNF382_ENST00000439428.1_Missense_Mutation_p.R473H	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	474	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)			AAGTCCTTCCGCCAGAAGGCA	0.463																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1417-1419)cGc>cAc		zinc finger protein 382							53	56	55					19																	37118220		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118220G>A	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.1421G>A	19.37:g.37118220G>A	ENSP00000292928:p.Arg474His					ZNF382_ENST00000423582.1_Missense_Mutation_p.R425H|ZNF382_ENST00000292928.2_Missense_Mutation_p.R474H|ZNF382_ENST00000439428.1_Missense_Mutation_p.R473H	p.R473H			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2913	+	Esophageal squamous(110;0.198)		474			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1418G>A	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.698821	0.48307	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.27	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160272	0.29916	N	0.010865	T	0.14960	0.0361	L	0.33339	1.005	0.28535	N	0.912416	P;P;D	0.53885	0.954;0.954;0.963	P;P;P	0.45794	0.481;0.481;0.493	T	0.04268	-1.0964	10	0.49607	T	0.09	.	10.1576	0.42831	0.0:0.3192:0.6808:0.0	.	473;473;474	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	H	425;474;473;473	ENSP00000389722:R425H;ENSP00000292928:R474H;ENSP00000407593:R473H;ENSP00000410113:R473H	ENSP00000292928:R474H	R	+	2	0	ZNF382	41810060	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.056000	0.11787	2.375000	0.81037	0.591000	0.81541	CGC		0.463	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		16	224	0	0	0	1	0	16	224					A	37118220	G	A	37118220	3	1	79	1	0	0	0	0	1	0	0	0	17926	1087	38	1	1431	1	ZNF382	19	37118220	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	345	37118220	22010763	19092	29409											
ZNF382	84911	broad.mit.edu	37	chr19	37118250	37118250	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatcctcactgttcatcacaGaatacatacaggagaaaaat	5	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118250G>T	ENST00000292928.2	+	5	1564	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF382_ENST00000423582.1_Missense_Mutation_p.R435I|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000435416.1_Missense_Mutation_p.R483I|ZNF382_ENST00000439428.1_Missense_Mutation_p.R483I	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	484	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)			GTTCATCACAGAATACATACA	0.463																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1447-1449)aGa>aTa		zinc finger protein 382							59	62	61					19																	37118250		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118250G>T	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.1451G>T	19.37:g.37118250G>T	ENSP00000292928:p.Arg484Ile					ZNF382_ENST00000423582.1_Missense_Mutation_p.R435I|ZNF382_ENST00000292928.2_Missense_Mutation_p.R484I|ZNF382_ENST00000439428.1_Missense_Mutation_p.R483I	p.R483I			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2943	+	Esophageal squamous(110;0.198)		484			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1448G>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275734	0.59649	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000297	T	0.46833	0.1413	M	0.88031	2.925	0.45025	D	0.998047	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.70016	0.967;0.967;0.927	T	0.56547	-0.7961	10	0.66056	D	0.02	.	14.5487	0.68050	0.0:0.0:1.0:0.0	.	483;483;484	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	435;484;483;483	ENSP00000389722:R435I;ENSP00000292928:R484I;ENSP00000407593:R483I;ENSP00000410113:R483I	ENSP00000292928:R484I	R	+	2	0	ZNF382	41810090	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.470000	0.22084	2.375000	0.81037	0.591000	0.81541	AGA		0.463	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		43	206	1	0	6.2361e-21	1	7.00342e-21	43	206					T	37118250	G	T	37118250	3	4	79	1	0	0	0	0	1	0	0	0	17926	942	33	3	1461	3	ZNF382	19	37118250	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30	37118250	22010733	19093	29410											
ZNF567	163081	broad.mit.edu	37	chr19	37211001	37211001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgtggaaagtccttcCgccagaagacaacccttgta	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211001C>T	ENST00000536254.2	+	6	1597	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	ZNF567_ENST00000585696.1_Missense_Mutation_p.R428C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C|ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			AAAGTCCTTCCGCCAGAAGAC	0.433																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1282-1284)Cgc>Tgc		zinc finger protein 567							75	79	78					19																	37211001		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211001C>T	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.1375C>T	19.37:g.37211001C>T	ENSP00000441838:p.Arg459Cys					ZNF567_ENST00000360729.4_Missense_Mutation_p.R428C|ZNF567_ENST00000588311.1_Missense_Mutation_p.R428C|ZNF567_ENST00000536254.2_Missense_Mutation_p.R459C|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.R428C	p.R428C			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2512	+	Esophageal squamous(110;0.198)		459					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1282C>T		.	.	.	.	.	.	.	.	.	.	C	11.59	1.685383	0.29872	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498;ENST00000392163	T;T;T	0.36699	1.24;1.24;1.24	4.88	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152893	0.31177	N	0.008105	T	0.43634	0.1256	M	0.63169	1.94	0.39029	D	0.959897	D;D	0.76494	0.999;0.999	P;P	0.56700	0.642;0.804	T	0.35674	-0.9779	10	0.28530	T	0.3	.	7.109	0.25380	0.0:0.5528:0.3555:0.0917	.	459;428	Q8N184;F8WEL6	ZN567_HUMAN;.	C	459;403;428;458;428	ENSP00000441838:R459C;ENSP00000353957:R428C;ENSP00000376003:R428C	ENSP00000353957:R428C	R	+	1	0	ZNF567	41902841	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	-0.376000	0.07465	0.725000	0.32318	0.561000	0.74099	CGC		0.433	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		72	307	0	0	0	1	0	72	307					T	37211001	C	T	37211001	3	4	79	1	0	0	0	0	1	0	0	0	18051	652	23	1	1292	1	ZNF567	19	37211001	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92751	37211001	21917982	19094	29411											
ZNF567	163081	broad.mit.edu	37	chr19	37211114	37211114	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatacctcattgatcatcaCcgaactcacacaggagagaa	6	12	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211114C>T	ENST00000536254.2	+	6	1710	c.1488C>T	c.(1486-1488)caC>caT	p.H496H	ZNF567_ENST00000585696.1_Silent_p.H465H|ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000392163.2_Silent_p.H465H|ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	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)			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)			TTGATCATCACCGAACTCACA	0.403																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1393-1395)caC>caT		zinc finger protein 567							77	75	75					19																	37211114		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211114C>T	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.1488C>T	19.37:g.37211114C>T						ZNF567_ENST00000360729.4_Silent_p.H465H|ZNF567_ENST00000588311.1_Silent_p.H465H|ZNF567_ENST00000536254.2_Silent_p.H496H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.H465H	p.H465H			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2625	+	Esophageal squamous(110;0.198)		496					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1395C>T																																																																																					0.403	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		49	260	0	0	0	1	0	49	260					T	37211114	C	T	37211114	2	4	79	1	0	0	0	0	0	0	0	1	18051	506	18	2		2	ZNF567	19	37211114	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113	37211114	21917869	19095	29412											
ZNF790	388536	broad.mit.edu	37	chr19	37309616	37309616	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagctgtgaaccccagaTaaaagatttcccacattctt	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309616T>A	ENST00000356725.4	-	5	1750	c.1630A>T	c.(1630-1632)Atc>Ttc	p.I544F	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	544					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			GAACCCCAGATAAAAGATTTC	0.393																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1630-1632)Atc>Ttc		zinc finger protein 790							112	112	112					19																	37309616		2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309616T>A	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.1630A>T	19.37:g.37309616T>A	ENSP00000349161:p.Ile544Phe					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.I544F	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1750	-	Esophageal squamous(110;0.183)		544						Missense_Mutation	SNP	ENST00000356725.4	37	c.1630A>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	T	3.310	-0.140997	0.06669	.	.	ENSG00000197863	ENST00000356725	T	0.60672	0.17	3.2	2.17	0.27698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44767	0.1309	N	0.19112	0.55	0.20926	N	0.999826	P	0.50369	0.934	P	0.50314	0.637	T	0.21655	-1.0239	9	0.18276	T	0.48	.	5.7212	0.17988	0.0:0.2363:0.0:0.7637	.	544	Q6PG37	ZN790_HUMAN	F	544	ENSP00000349161:I544F	ENSP00000349161:I544F	I	-	1	0	ZNF790	42001456	0.000000	0.05858	0.270000	0.24601	0.898000	0.52572	-2.284000	0.01154	0.437000	0.26423	0.402000	0.26972	ATC		0.393	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		142	494	0	0	0	1	0	142	494					A	37309616	T	A	37309616	3	1	79	1	0	0	0	0	1	0	0	0	18215	1406	49	5	284	5	ZNF790	19	37309616	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	98502	37309616	21819367	19096	29413											
ZNF790	388536	broad.mit.edu	37	chr19	37309951	37309951	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaagatacgaagcccaaGtaaaagtcttcccgcattgc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309951G>A	ENST00000356725.4	-	5	1415	c.1295C>T	c.(1294-1296)aCt>aTt	p.T432I	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	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)|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)			CGAAGCCCAAGTAAAAGTCTT	0.418																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(1294-1296)aCt>aTt		zinc finger protein 790							90	91	91					19																	37309951		2203	4299	6502	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309951G>A	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.1295C>T	19.37:g.37309951G>A	ENSP00000349161:p.Thr432Ile					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.T432I	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1415	-	Esophageal squamous(110;0.183)		432						Missense_Mutation	SNP	ENST00000356725.4	37	c.1295C>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232322	0.05983	.	.	ENSG00000197863	ENST00000356725	T	0.07688	3.17	3.14	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.21142	0.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46345	-0.9198	9	0.16896	T	0.51	.	0.6109	0.00761	0.4251:0.1728:0.2325:0.1696	.	432	Q6PG37	ZN790_HUMAN	I	432	ENSP00000349161:T432I	ENSP00000349161:T432I	T	-	2	0	ZNF790	42001791	0.000000	0.05858	0.009000	0.14445	0.488000	0.33401	-3.108000	0.00601	0.004000	0.14682	-0.339000	0.08088	ACT		0.418	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		16	659	0	0	0	1	0	16	659					A	37309951	G	A	37309951	3	1	79	1	0	0	0	0	1	0	0	0	18215	1029	36	2	619	2	ZNF790	19	37309951	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	335	37309951	21819032	19097	29414											
ZNF790	388536	broad.mit.edu	37	chr19	37310733	37310733	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctttccccagttctttaaaTtcattcagtttgtctcctgt	5	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37310733T>C	ENST00000356725.4	-	5	633	c.513A>G	c.(511-513)gaA>gaG	p.E171E	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	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			GTTCTTTAAATTCATTCAGTT	0.383																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(511-513)gaA>gaG		zinc finger protein 790							109	108	108					19																	37310733		2203	4300	6503	SO:0001819	synonymous_variant	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310733T>C	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.513A>G	19.37:g.37310733T>C						CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.E171E	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	633	-	Esophageal squamous(110;0.183)		171						Silent	SNP	ENST00000356725.4	37	c.513A>G	CCDS12496.1																																																																																				0.383	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		104	412	0	0	0	1	0	104	412					C	37310733	T	C	37310733	2	2	79	1	0	0	0	0	0	0	0	1	18215	1490	52	4		4	ZNF790	19	37310733	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	782	37310733	21818250	19098	29415											
ZNF345	25850	broad.mit.edu	37	chr19	37368396	37368396	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaaccttactcaacatcggCggattcatactggtgagaaa	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368396C>T	ENST00000529555.1	+	2	1452	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ZNF345_ENST00000420450.1_Missense_Mutation_p.R222W|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R222W|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	222					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)			TCAACATCGGCGGATTCATAC	0.443																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(664-666)Cgg>Tgg		zinc finger protein 345							73	71	72					19																	37368396		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368396C>T	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.664C>T	19.37:g.37368396C>T	ENSP00000431202:p.Arg222Trp					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R222W|ZNF345_ENST00000589046.1_Missense_Mutation_p.R222W	p.R222W			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1452	+	Esophageal squamous(110;0.183)		222						Missense_Mutation	SNP	ENST00000529555.1	37	c.664C>T	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558761	0.45590	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.02498	4.27;4.27	4.14	0.46	0.16684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14917	0.0360	M	0.82323	2.585	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02901	-1.1096	8	.	.	.	.	12.5431	0.56184	0.2942:0.7058:0.0:0.0	.	222	Q14585	ZN345_HUMAN	W	222	ENSP00000431216:R222W;ENSP00000431202:R222W	.	R	+	1	2	ZNF345	42060236	0.000000	0.05858	0.542000	0.28115	0.991000	0.79684	-0.512000	0.06313	-0.073000	0.12842	0.561000	0.74099	CGG		0.443	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			53	278	0	0	0	1	0	53	278					T	37368396	C	T	37368396	3	4	79	1	0	0	0	0	1	0	0	0	17912	759	27	1	666	1	ZNF345	19	37368396	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57663	37368396	21760587	19099	29416											
ZNF345	25850	broad.mit.edu	37	chr19	37368427	37368427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagaaaccttatgaatGcaaagcatgtggaatggcct	12	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368427G>A	ENST00000529555.1	+	2	1483	c.695G>A	c.(694-696)tGc>tAc	p.C232Y	ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	232					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)			CCTTATGAATGCAAAGCATGT	0.418																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(694-696)tGc>tAc		zinc finger protein 345							78	75	76					19																	37368427		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368427G>A	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.695G>A	19.37:g.37368427G>A	ENSP00000431202:p.Cys232Tyr					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C232Y|ZNF345_ENST00000589046.1_Missense_Mutation_p.C232Y	p.C232Y			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1483	+	Esophageal squamous(110;0.183)		232						Missense_Mutation	SNP	ENST00000529555.1	37	c.695G>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599527	0.66332	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	D;D	0.85088	-1.94;-1.94	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93167	0.7824	M	0.89601	3.045	0.39967	D	0.974745	D	0.89917	1.0	D	0.97110	1.0	D	0.94805	0.7974	9	0.72032	D	0.01	.	14.2701	0.66147	0.0:0.0:1.0:0.0	.	232	Q14585	ZN345_HUMAN	Y	232	ENSP00000431216:C232Y;ENSP00000431202:C232Y	ENSP00000431216:C232Y	C	+	2	0	ZNF345	42060267	1.000000	0.71417	0.769000	0.31535	0.925000	0.55904	6.633000	0.74286	2.280000	0.76307	0.561000	0.74099	TGC		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			56	284	0	0	0	1	0	56	284					A	37368427	G	A	37368427	3	1	79	1	0	0	0	0	1	0	0	0	17912	1319	46	2	697	2	ZNF345	19	37368427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31	37368427	21760556	19100	29417											
ZNF345	25850	broad.mit.edu	37	chr19	37368905	37368905	+	Silent	SNP	C	C	T													cttatccaacaccagctaatCcatactggtgaaagacccta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368905C>T	ENST00000529555.1	+	2	1961	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.I391I|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	391					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)			ACCAGCTAATCCATACTGGTG	0.423																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1171-1173)atC>atT		zinc finger protein 345							85	80	82					19																	37368905		2203	4300	6503	SO:0001819	synonymous_variant	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368905C>T	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.1173C>T	19.37:g.37368905C>T						ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Silent_p.I391I|ZNF345_ENST00000589046.1_Silent_p.I391I	p.I391I			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1961	+	Esophageal squamous(110;0.183)		391						Silent	SNP	ENST00000529555.1	37	c.1173C>T	CCDS12497.1																																																																																				0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			16	318	0	0	0	1	0	16	318					T	37368905	C	T	37368905	2	4	79	1	0	0	0	0	0	0	0	1	17912	845	30	2		2	ZNF345	19	37368905	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	478	37368905	21760078	19101	29418	188	2									
ZNF345	25850	broad.mit.edu	37	chr19	37368910	37368910	+	Missense_Mutation	SNP	C	C	A													ccaacaccagctaatccataCtggtgaaagaccctatgaat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368910C>A	ENST00000529555.1	+	2	1966	c.1178C>A	c.(1177-1179)aCt>aAt	p.T393N	ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	393					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)			CTAATCCATACTGGTGAAAGA	0.423																																						ENST00000529555.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1177-1179)aCt>aAt		zinc finger protein 345							84	79	81					19																	37368910		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368910C>A	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.1178C>A	19.37:g.37368910C>A	ENSP00000431202:p.Thr393Asn					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.T393N|ZNF345_ENST00000589046.1_Missense_Mutation_p.T393N	p.T393N			Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1966	+	Esophageal squamous(110;0.183)		393						Missense_Mutation	SNP	ENST00000529555.1	37	c.1178C>A	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714819	0.48622	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.26067	1.76;1.76	3.93	1.46	0.22682	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26484	0.0647	L	0.46670	1.46	0.24034	N	0.996108	P	0.34826	0.471	B	0.38683	0.279	T	0.26224	-1.0109	9	0.72032	D	0.01	.	11.4064	0.49900	0.0:0.6517:0.3483:0.0	.	393	Q14585	ZN345_HUMAN	N	393;393;157	ENSP00000431216:T393N;ENSP00000431202:T393N	ENSP00000442320:T157N	T	+	2	0	ZNF345	42060750	0.001000	0.12720	0.997000	0.53966	0.616000	0.37450	1.183000	0.32041	0.915000	0.36847	0.561000	0.74099	ACT		0.423	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1			60	269	1	0	1.47633e-17	1	1.63113e-17	60	269					A	37368910	C	A	37368910	3	1	79	1	0	0	0	0	1	0	0	0	17912	565	20	3	1180	3	ZNF345	19	37368910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5	37368910	21760073	19102	29419	188	2									
ZNF829	374899	broad.mit.edu	37	chr19	37382434	37382434	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcgaatgaggtcagagCgactaccaaaagcctttcca	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382434C>T	ENST00000391711.3	-	6	1623	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.R501H|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	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)			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)			GAGGTCAGAGCGACTACCAAA	0.373																																						ENST00000520965.1																			0				endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1501-1503)cGc>cAc		zinc finger protein 829							64	66	65					19																	37382434		2190	4291	6481	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382434C>T	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.1259G>A	19.37:g.37382434C>T	ENSP00000429266:p.Arg420His					ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.R420H	p.R501H	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1568	-	Esophageal squamous(110;0.183)		420					Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.1502G>A	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	9.539	1.112918	0.20795	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.36157	1.27	3.28	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27832	0.0685	L	0.43646	1.37	0.24617	N	0.993694	B	0.15930	0.015	B	0.01281	0.0	T	0.19614	-1.0300	9	0.21014	T	0.42	.	9.3436	0.38096	0.0:0.8812:0.0:0.1188	.	420	Q3KNS6	ZN829_HUMAN	H	420	ENSP00000429266:R420H	ENSP00000429266:R420H	R	-	2	0	ZNF829	42074274	0.000000	0.05858	0.991000	0.47740	0.993000	0.82548	-1.426000	0.02443	0.912000	0.36772	0.557000	0.71058	CGC		0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		65	305	0	0	0	1	0	65	305					T	37382434	C	T	37382434	3	4	79	1	0	0	0	0	1	0	0	0	18235	768	27	1	43	1	ZNF829	19	37382434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13524	37382434	21746549	19103	29420											
ZNF829	374899	broad.mit.edu	37	chr19	37382697	37382697	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgttgaggcactattaaaGgccttcccacactgcttaca	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382697G>T	ENST00000391711.3	-	6	1360	c.996C>A	c.(994-996)gcC>gcA	p.A332A	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Silent_p.A413A|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	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(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)			CACTATTAAAGGCCTTCCCAC	0.413																																						ENST00000520965.1																			0				endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1237-1239)gcC>gcA		zinc finger protein 829							73	75	74					19																	37382697		2198	4300	6498	SO:0001819	synonymous_variant	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382697G>T	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.996C>A	19.37:g.37382697G>T						ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000391711.3_Silent_p.A332A	p.A413A	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1305	-	Esophageal squamous(110;0.183)		332					Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	ENST00000391711.3	37	c.1239C>A	CCDS42557.1																																																																																				0.413	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		43	205	1	0	1.62957e-23	1	1.85347e-23	43	205					T	37382697	G	T	37382697	2	4	79	1	0	0	0	0	0	0	0	1	18235	987	35	3		3	ZNF829	19	37382697	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	263	37382697	21746286	19104	29421											
ZNF568	374900	broad.mit.edu	37	chr19	37413686	37413686	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtctgaatgacatctcaatCttcagtgatcagcaatagct	8	9	5	3	rs573204075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37413686C>A	ENST00000333987.7	+	3	520	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			ACATCTCAATCTTCAGTGATC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18776	0.0		0.0	False		,,,				2504	0.001					ENST00000333987.7																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(13-15)tCt>tAt		zinc finger protein 568							107	106	106					19																	37413686		1984	4162	6146	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37413686C>A	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.14C>A	19.37:g.37413686C>A	ENSP00000334685:p.Ser5Tyr					ZNF568_ENST00000427117.1_Missense_Mutation_p.S5Y|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_Intron	p.S5Y	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	520	+	Esophageal squamous(110;0.183)		5					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.14C>A	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201655	0.22121	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.07327	5.72;3.46;3.2	2.92	1.88	0.25563	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	0.999999	B	0.22604	0.072	B	0.21708	0.036	T	0.47315	-0.9127	9	0.13108	T	0.6	.	5.9183	0.19067	0.0:0.8516:0.0:0.1484	.	5	Q3ZCX4	ZN568_HUMAN	Y	5	ENSP00000407012:S5Y;ENSP00000334685:S5Y;ENSP00000389794:S5Y	ENSP00000334685:S5Y	S	+	2	0	ZNF568	42105526	0.086000	0.21541	0.034000	0.17996	0.270000	0.26580	1.137000	0.31479	0.798000	0.33994	-0.391000	0.06502	TCT		0.512	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		42	197	1	0	2.45108e-15	1	2.67628e-15	42	197					A	37413686	C	A	37413686	3	1	79	1	0	0	0	0	1	0	0	0	18052	913	32	3	16	3	ZNF568	19	37413686	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30989	37413686	21715297	19105	29422											
ZNF568	374900	broad.mit.edu	37	chr19	37416155	37416155	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaggatacaaccaggCctcttgtacgtcttaagcat	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37416155C>T	ENST00000333987.7	+	4	636	c.130C>T	c.(130-132)Cct>Tct	p.P44S	ZNF568_ENST00000455427.2_5'UTR|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			TACAACCAGGCCTCTTGTACG	0.403																																						ENST00000333987.7																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(130-132)Cct>Tct		zinc finger protein 568							143	129	133					19																	37416155		1880	4109	5989	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37416155C>T	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.130C>T	19.37:g.37416155C>T	ENSP00000334685:p.Pro44Ser					ZNF568_ENST00000427117.1_Missense_Mutation_p.P44S|ZNF568_ENST00000415168.1_Intron|ZNF568_ENST00000455427.2_5'UTR	p.P44S	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	636	+	Esophageal squamous(110;0.183)		44					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.130C>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	0.116	-1.131312	0.01756	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.00768	5.72;5.72;5.72	3.89	0.386	0.16254	Krueppel-associated box (1);	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56086	-0.8037	9	0.17369	T	0.5	.	5.9284	0.19124	0.0:0.3722:0.0:0.6278	.	44;44	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	S	44	ENSP00000407012:P44S;ENSP00000334685:P44S;ENSP00000389794:P44S	ENSP00000334685:P44S	P	+	1	0	ZNF568	42107995	0.704000	0.27836	0.699000	0.30290	0.796000	0.44982	0.298000	0.19120	0.022000	0.15160	-0.311000	0.09066	CCT		0.403	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		35	162	0	0	0	1	0	35	162					T	37416155	C	T	37416155	3	4	79	1	0	0	0	0	1	0	0	0	18052	739	26	2	136	2	ZNF568	19	37416155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2469	37416155	21712828	19106	29423											
ZNF568	374900	broad.mit.edu	37	chr19	37427667	37427667	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacagtgacatttaaggAtgtggctgttgaccttaccc	11	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	ENST00000333987.7	+	5	661	c.155A>T	c.(154-156)gAt>gTt	p.D52V	ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame|ZNF568_ENST00000415168.1_De_novo_Start_OutOfFrame|ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(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)			ACATTTAAGGATGTGGCTGTT	0.393																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29								zinc finger protein 568							84	86	85					19																	37427667		2202	4300	6502	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37427667A>T	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.155A>T	19.37:g.37427667A>T	ENSP00000334685:p.Asp52Val					ZNF568_ENST00000427117.1_Missense_Mutation_p.D52V|ZNF568_ENST00000333987.7_Missense_Mutation_p.D52V|ZNF568_ENST00000455427.2_De_novo_Start_OutOfFrame		NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		0	339	+	Esophageal squamous(110;0.183)							B4DS92|E7ER33|Q6N060|Q8NA64	Translation_Start_Site	SNP	ENST00000333987.7	37		CCDS42558.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.554855	0.65425	.	.	ENSG00000198453	ENST00000427117;ENST00000333987;ENST00000444991	T;T;T	0.12039	2.72;2.72;2.72	4.69	4.69	0.59074	Krueppel-associated box (4);	.	.	.	.	T	0.50205	0.1602	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64909	-0.6296	9	0.87932	D	0	.	10.4605	0.44577	1.0:0.0:0.0:0.0	.	52;52	C9JZ58;Q3ZCX4	.;ZN568_HUMAN	V	52	ENSP00000407012:D52V;ENSP00000334685:D52V;ENSP00000389794:D52V	ENSP00000334685:D52V	D	+	2	0	ZNF568	42119507	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.384000	0.52478	1.959000	0.56917	0.533000	0.62120	GAT		0.393	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		50	259	0	0	0	1	0	50	259					T	37427667	A	T	37427667	3	4	79	1	0	0	0	0	1	0	0	0	18052	333	12	5	165	5	ZNF568	19	37427667	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11512	37427667	21701316	19107	29424											
ZNF568	374900	broad.mit.edu	37	chr19	37440777	37440777	+	Missense_Mutation	SNP	A	A	G													atttgacctcattagacatgAgcgaattcatgctggagaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440777A>G	ENST00000333987.7	+	7	1228	c.722A>G	c.(721-723)gAg>gGg	p.E241G	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.E177G|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			ATTAGACATGAGCGAATTCAT	0.383																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(529-531)gAg>gGg		zinc finger protein 568							60	62	61					19																	37440777		2098	4262	6360	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440777A>G	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.722A>G	19.37:g.37440777A>G	ENSP00000334685:p.Glu241Gly					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.E241G|ZNF568_ENST00000455427.2_Intron	p.E177G	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	906	+	Esophageal squamous(110;0.183)		241					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.530A>G	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.345033	0.24426	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.07444	3.19;3.19	3.83	0.267	0.15622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.440276	0.16878	N	0.195807	T	0.07143	0.0181	L	0.46157	1.445	0.21627	N	0.999615	B	0.06786	0.001	B	0.15484	0.013	T	0.29731	-1.0002	10	0.62326	D	0.03	.	4.1248	0.10123	0.5954:0.0:0.0947:0.3099	.	241	Q3ZCX4	ZN568_HUMAN	G	241;177	ENSP00000334685:E241G;ENSP00000394514:E177G	ENSP00000334685:E241G	E	+	2	0	ZNF568	42132617	0.000000	0.05858	0.016000	0.15963	0.936000	0.57629	0.280000	0.18790	-0.157000	0.11059	0.528000	0.53228	GAG		0.383	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		74	283	0	0	0	1	0	74	283					G	37440777	A	G	37440777	3	3	79	1	0	0	0	0	1	0	0	0	18052	304	11	4	740	4	ZNF568	19	37440777	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13110	37440777	21688206	19108	29425	189	2									
ZNF568	374900	broad.mit.edu	37	chr19	37440779	37440779	+	Nonsense_Mutation	SNP	C	C	T													ttgacctcattagacatgagCgaattcatgctggagagaaa					rs565321465	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440779C>T	ENST00000333987.7	+	7	1230	c.724C>T	c.(724-726)Cga>Tga	p.R242*	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R178*|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	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)|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)			TAGACATGAGCGAATTCATGC	0.378													C|||	2	0.000399361	0.0	0.0	5008	,	,		20962	0.0		0.0	False		,,,				2504	0.002					ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(532-534)Cga>Tga		zinc finger protein 568							58	60	59					19																	37440779		2100	4260	6360	SO:0001587	stop_gained	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440779C>T	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.724C>T	19.37:g.37440779C>T	ENSP00000334685:p.Arg242*					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.R242*|ZNF568_ENST00000455427.2_Intron	p.R178*	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	908	+	Esophageal squamous(110;0.183)		242					B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	c.532C>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	36	5.664843	0.96745	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	3.83	1.7	0.24286	.	0.190064	0.26075	N	0.026483	.	.	.	.	.	.	0.26320	N	0.977697	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5379	0.07800	0.5614:0.2167:0.222:0.0	.	.	.	.	X	242;178	.	ENSP00000334685:R242X	R	+	1	2	ZNF568	42132619	0.000000	0.05858	0.028000	0.17463	0.950000	0.60333	-0.139000	0.10358	0.181000	0.19994	-0.271000	0.10264	CGA		0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		74	278	0	0	0	1	0	74	278					T	37440779	C	T	37440779	4	4	79	1	0	0	0	0	0	1	0	0	18052	760	27	1	742	1	ZNF568	19	37440779	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2	37440779	21688204	19109	29426	189	2									
ZNF568	374900	broad.mit.edu	37	chr19	37441974	37441974	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gagaggtcatacaggtgagaGacaccaagtatattaaatga	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37441974G>T	ENST00000333987.7	+	7	2425	c.1919G>T	c.(1918-1920)aGa>aTa	p.R640I	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.R576I|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)			ACAGGTGAGAGACACCAAGTA	0.363																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(1726-1728)aGa>aTa		zinc finger protein 568							47	53	51					19																	37441974		2075	4250	6325	SO:0001583	missense	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441974G>T	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.1919G>T	19.37:g.37441974G>T	ENSP00000334685:p.Arg640Ile					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.R640I|ZNF568_ENST00000455427.2_Intron	p.R576I	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2103	+	Esophageal squamous(110;0.183)		640					B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	c.1727G>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091834	0.36952	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.08720	3.06;3.06	4.24	0.513	0.17000	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.449576	0.16444	N	0.214196	T	0.08582	0.0213	M	0.63169	1.94	0.41248	D	0.986695	B	0.16166	0.016	B	0.17979	0.02	T	0.14200	-1.0481	10	0.87932	D	0	.	3.3648	0.07199	0.5667:0.206:0.2274:0.0	.	640	Q3ZCX4	ZN568_HUMAN	I	640;576	ENSP00000334685:R640I;ENSP00000394514:R576I	ENSP00000334685:R640I	R	+	2	0	ZNF568	42133814	0.565000	0.26610	0.082000	0.20525	0.234000	0.25298	0.960000	0.29253	0.274000	0.22072	-0.423000	0.05987	AGA		0.363	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		35	266	1	0	2.42023e-17	1	2.67004e-17	35	266					T	37441974	G	T	37441974	3	4	79	1	0	0	0	0	1	0	0	0	18052	942	33	3	1937	3	ZNF568	19	37441974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1195	37441974	21687009	19110	29427											
ZNF420	147923	broad.mit.edu	37	chr19	37618211	37618211	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaatcagaaggaataTttcaggcaagggatgatcat	10	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618211T>G	ENST00000337995.3	+	5	533	c.318T>G	c.(316-318)taT>taG	p.Y106*	ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	106					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)			AGAAGGAATATTTCAGGCAAG	0.373																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(316-318)taT>taG		zinc finger protein 420							106	104	105					19																	37618211		2203	4300	6503	SO:0001587	stop_gained	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618211T>G	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.318T>G	19.37:g.37618211T>G	ENSP00000338770:p.Tyr106*					ZNF420_ENST00000304239.7_Nonsense_Mutation_p.Y106*|ZNF585A_ENST00000588723.1_Intron	p.Y106*	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	533	+			106					B2RDY6|Q96ML5	Nonsense_Mutation	SNP	ENST00000337995.3	37	c.318T>G	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.001244	0.54254	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999979	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0673	0.36471	0.0:0.0:0.0:1.0	.	.	.	.	X	106	.	ENSP00000306102:Y106X	Y	+	3	2	ZNF420	42310051	0.010000	0.17322	0.138000	0.22173	0.623000	0.37688	1.531000	0.36018	1.698000	0.51180	0.459000	0.35465	TAT		0.373	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		62	287	0	0	0	1	0	62	287					G	37618211	T	G	37618211	4	3	79	1	0	0	0	0	0	1	0	0	17950	1500	52	4	328	4	ZNF420	19	37618211	Nonsense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176237	37618211	21510772	19111	29428											
ZNF420	147923	broad.mit.edu	37	chr19	37618753	37618753	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaagaatgtaggaaggTctttactcagctctcacaac	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618753T>C	ENST00000337995.3	+	5	1075	c.860T>C	c.(859-861)gTc>gCc	p.V287A	ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	287					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)			TGTAGGAAGGTCTTTACTCAG	0.383																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(859-861)gTc>gCc		zinc finger protein 420							84	93	90					19																	37618753		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618753T>C	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.860T>C	19.37:g.37618753T>C	ENSP00000338770:p.Val287Ala					ZNF420_ENST00000304239.7_Missense_Mutation_p.V287A|ZNF585A_ENST00000588723.1_Intron	p.V287A	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1075	+			287					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.860T>C	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	2.275	-0.366154	0.05069	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.16324	2.35;2.35	3.97	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.04275	-0.24	0.58432	D	0.99999	B	0.17268	0.021	B	0.15870	0.014	T	0.35748	-0.9776	9	0.02654	T	1	.	0.1891	0.00132	0.2272:0.1711:0.2344:0.3673	.	287	Q8TAQ5	ZN420_HUMAN	A	287	ENSP00000306102:V287A;ENSP00000338770:V287A	ENSP00000306102:V287A	V	+	2	0	ZNF420	42310593	0.000000	0.05858	0.998000	0.56505	0.970000	0.65996	-1.307000	0.02733	0.537000	0.28751	0.528000	0.53228	GTC		0.383	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		29	473	0	0	0	1	0	29	473					C	37618753	T	C	37618753	3	2	79	1	0	0	0	0	1	0	0	0	17950	1667	58	4	870	4	ZNF420	19	37618753	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	542	37618753	21510230	19112	29429											
ZNF585A	199704	broad.mit.edu	37	chr19	37644430	37644430	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cataagctttctccccaggaTacattttttgaggttgagag	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37644430T>C	ENST00000356958.4	-	5	629	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	124					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)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCCCCAGGATACATTTTTTG	0.383																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(370-372)tAt>tGt		zinc finger protein 585A							160	163	162					19																	37644430		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644430T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.371A>G	19.37:g.37644430T>C	ENSP00000349440:p.Tyr124Cys					ZNF585A_ENST00000355533.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.Y69C|ZNF585A_ENST00000392157.2_Missense_Mutation_p.Y69C|ZNF585A_ENST00000588723.1_Intron	p.Y124C			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	629	-			124					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.371A>G		.	.	.	.	.	.	.	.	.	.	T	13.61	2.288427	0.40494	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.28255	3.29;3.29;3.29;1.62	3.53	3.53	0.40419	.	0.468661	0.15806	U	0.243722	T	0.21022	0.0506	N	0.19112	0.55	0.30995	N	0.721005	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.87932	D	0	.	11.444	0.50112	0.0:0.0:0.0:1.0	.	124	Q6P3V2	Z585A_HUMAN	C	124;69;69;69	ENSP00000349440:Y124C;ENSP00000292841:Y69C;ENSP00000375998:Y69C;ENSP00000347724:Y69C	ENSP00000292841:Y69C	Y	-	2	0	ZNF585A	42336270	0.070000	0.21116	0.014000	0.15608	0.001000	0.01503	2.843000	0.48238	1.578000	0.49821	0.533000	0.62120	TAT		0.383	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		202	815	0	0	0	1	0	202	815					C	37644430	T	C	37644430	3	2	79	1	0	0	0	0	1	0	0	0	18070	1406	49	4	1942	4	ZNF585A	19	37644430	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25677	37644430	21484553	19113	29430											
ZNF585B	92285	broad.mit.edu	37	chr19	37677451	37677451	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctgaagaccttcccatattCggtacatatatagggcttca	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677451C>T	ENST00000532828.2	-	5	1239	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	330					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)			TTCCCATATTCGGTACATATA	0.398																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(988-990)Gaa>Aaa		zinc finger protein 585B							177	162	167					19																	37677451		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677451C>T	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.988G>A	19.37:g.37677451C>T	ENSP00000433773:p.Glu330Lys					ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E275K	p.E330K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1239	-			330					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.988G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728860	0.15507	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.07327	3.2;3.2	2.93	1.87	0.25490	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.618927	0.13412	N	0.389765	T	0.05914	0.0154	N	0.20530	0.585	0.34244	D	0.677925	B;B	0.17667	0.023;0.014	B;B	0.14023	0.003;0.01	T	0.14035	-1.0487	10	0.56958	D	0.05	.	8.637	0.33955	0.0:0.8754:0.0:0.1246	.	275;330	E9PQH3;Q52M93	.;Z585B_HUMAN	K	275;330	ENSP00000436774:E275K;ENSP00000433773:E330K	ENSP00000436774:E275K	E	-	1	0	ZNF585B	42369291	0.000000	0.05858	0.006000	0.13384	0.279000	0.26890	-0.285000	0.08410	0.542000	0.28846	0.455000	0.32223	GAA		0.398	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		132	557	0	0	0	1	0	132	557					T	37677451	C	T	37677451	3	4	79	1	0	0	0	0	1	0	0	0	18071	893	31	1	1325	1	ZNF585B	19	37677451	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33021	37677451	21451532	19114	29431											
ZNF585B	92285	broad.mit.edu	37	chr19	37677675	37677675	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctgatgaatcttgagtgtgGacttttgtgtgaacgctttg	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677675G>T	ENST00000532828.2	-	5	1015	c.764C>A	c.(763-765)tCc>tAc	p.S255Y	ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	255					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)			CTTGAGTGTGGACTTTTGTGT	0.428																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(763-765)tCc>tAc		zinc finger protein 585B							183	180	181					19																	37677675		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677675G>T	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.764C>A	19.37:g.37677675G>T	ENSP00000433773:p.Ser255Tyr					ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S200Y	p.S255Y	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1015	-			255					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.764C>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	4.716	0.133052	0.09032	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.18502	2.21;2.21	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37136	N	0.002237	T	0.26702	0.0653	L	0.58302	1.8	0.09310	N	0.999998	P;D	0.65815	0.936;0.995	B;P	0.57911	0.374;0.829	T	0.02307	-1.1179	10	0.62326	D	0.03	.	6.5405	0.22377	0.151:0.0:0.849:0.0	.	200;255	E9PQH3;Q52M93	.;Z585B_HUMAN	Y	200;255	ENSP00000436774:S200Y;ENSP00000433773:S255Y	ENSP00000436774:S200Y	S	-	2	0	ZNF585B	42369515	0.000000	0.05858	0.997000	0.53966	0.008000	0.06430	0.126000	0.15769	1.338000	0.45544	0.455000	0.32223	TCC		0.428	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		128	632	1	0	9.56113e-55	1	1.19399e-54	128	632					T	37677675	G	T	37677675	3	4	79	1	0	0	0	0	1	0	0	0	18071	1174	41	3	1549	3	ZNF585B	19	37677675	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	37677675	21451308	19115	29432											
ZNF383	163087	broad.mit.edu	37	chr19	37734149	37734149	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcatactggtgagaaaccCtatgagtgcaaggaatgtgg	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734149C>T	ENST00000589413.1	+	8	1594	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ZNF383_ENST00000352998.3_Silent_p.P337P|ZNF383_ENST00000590503.1_Silent_p.P337P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCCTATGAGTGCA	0.418																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1009-1011)ccC>ccT		zinc finger protein 383							82	86	85					19																	37734149		2203	4300	6503	SO:0001819	synonymous_variant	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734149C>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1011C>T	19.37:g.37734149C>T						ZNF383_ENST00000590503.1_Silent_p.P337P|ZNF383_ENST00000352998.3_Silent_p.P337P	p.P337P			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1594	+			337					Q6X2C7	Silent	SNP	ENST00000589413.1	37	c.1011C>T	CCDS12501.1																																																																																				0.418	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		82	381	0	0	0	1	0	82	381					T	37734149	C	T	37734149	2	4	79	1	0	0	0	0	0	0	0	1	17927	668	24	2		2	ZNF383	19	37734149	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56474	37734149	21394834	19116	29433											
ZNF383	163087	broad.mit.edu	37	chr19	37734379	37734379	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaacttttccagcatcagaGaattcatacagatgaaaaac	5	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734379G>T	ENST00000589413.1	+	8	1824	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I|ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I			Q8NA42	ZN383_HUMAN	zinc finger protein 383	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACA	0.393																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1240-1242)aGa>aTa		zinc finger protein 383							54	57	56					19																	37734379		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734379G>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1241G>T	19.37:g.37734379G>T	ENSP00000464871:p.Arg414Ile					ZNF383_ENST00000590503.1_Missense_Mutation_p.R414I|ZNF383_ENST00000352998.3_Missense_Mutation_p.R414I	p.R414I			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1824	+			414					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1241G>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211440	0.58343	.	.	ENSG00000188283	ENST00000352998	T	0.24908	1.83	3.62	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003790	T	0.36608	0.0973	L	0.45137	1.4	0.40780	D	0.983167	D	0.67145	0.996	D	0.66497	0.944	T	0.21930	-1.0231	10	0.66056	D	0.02	.	10.0584	0.42259	0.0:0.0:0.7991:0.2009	.	414	Q8NA42	ZN383_HUMAN	I	414	ENSP00000340132:R414I	ENSP00000340132:R414I	R	+	2	0	ZNF383	42426219	0.008000	0.16893	1.000000	0.80357	0.902000	0.53008	1.458000	0.35223	2.017000	0.59298	0.563000	0.77884	AGA		0.393	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		53	220	1	0	4.25531e-23	1	4.83061e-23	53	220					T	37734379	G	T	37734379	3	4	79	1	0	0	0	0	1	0	0	0	17927	942	33	3	1255	3	ZNF383	19	37734379	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	37734379	21394604	19117	29434											
ZNF383	163087	broad.mit.edu	37	chr19	37734418	37734418	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatatgaatgtaatgaatGtggaaaggcctttaataaat	8	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734418G>A	ENST00000589413.1	+	8	1863	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y|ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y			Q8NA42	ZN383_HUMAN	zinc finger protein 383	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAATGAATGTGGAAAGGCC	0.378																																						ENST00000589413.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15						c.(1279-1281)tGt>tAt		zinc finger protein 383							66	68	67					19																	37734418		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734418G>A	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.1280G>A	19.37:g.37734418G>A	ENSP00000464871:p.Cys427Tyr					ZNF383_ENST00000590503.1_Missense_Mutation_p.C427Y|ZNF383_ENST00000352998.3_Missense_Mutation_p.C427Y	p.C427Y			Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1863	+			427					Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.1280G>A	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308850	0.40895	.	.	ENSG00000188283	ENST00000352998	D	0.85861	-2.04	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34435	N	0.003980	D	0.94371	0.8190	H	0.96518	3.835	0.31323	N	0.685758	D	0.89917	1.0	D	0.97110	1.0	D	0.93643	0.6966	10	0.87932	D	0	.	13.6497	0.62304	0.0:0.0:1.0:0.0	.	427	Q8NA42	ZN383_HUMAN	Y	427	ENSP00000340132:C427Y	ENSP00000340132:C427Y	C	+	2	0	ZNF383	42426258	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	6.899000	0.75682	2.134000	0.65973	0.563000	0.77884	TGT		0.378	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		73	295	0	0	0	1	0	73	295					A	37734418	G	A	37734418	3	1	79	1	0	0	0	0	1	0	0	0	17927	1377	48	2	1294	2	ZNF383	19	37734418	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	37734418	21394565	19118	29435											
ZNF527	84503	broad.mit.edu	37	chr19	37880058	37880058	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaggcctttagccgTtatgccttccttgttgaaca	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37880058T>G	ENST00000436120.2	+	5	1214	c.1107T>G	c.(1105-1107)cgT>cgG	p.R369R	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(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)			CCTTTAGCCGTTATGCCTTCC	0.438																																						ENST00000436120.2																			0				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						c.(1105-1107)cgT>cgG		zinc finger protein 527							64	69	67					19																	37880058		2199	4300	6499	SO:0001819	synonymous_variant	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880058T>G	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.1107T>G	19.37:g.37880058T>G						ZNF527_ENST00000587349.1_Intron	p.R369R	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1214	+			369					B4DVL5	Silent	SNP	ENST00000436120.2	37	c.1107T>G	CCDS42559.1																																																																																				0.438	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		54	260	0	0	0	1	0	54	260					G	37880058	T	G	37880058	2	3	79	1	0	0	0	0	0	0	0	1	18021	1712	60	4		4	ZNF527	19	37880058	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	145640	37880058	21248925	19119	29436											
ZNF569	148266	broad.mit.edu	37	chr19	37916864	37916864	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtttggtgaacggataGcctgtcaaagggaagttaca	13	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	ENST00000316950.6	-	5	701	c.144C>A	c.(142-144)ggC>ggA	p.G48G	ZNF569_ENST00000589833.1_Splice_Site_p.G72G|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48G|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000591073.1_5'Flank	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAACGGATAGCCTGTCAAAG	0.438																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e5-1		zinc finger protein 569							258	250	253					19																	37916864		2203	4300	6503	SO:0001630	splice_region_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37916864G>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.143-1C>A	19.37:g.37916864G>T						ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Splice_Site_p.G72_splice|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392149.2_Splice_Site_p.G48_splice	p.G48_splice	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	701	-			48			KRAB.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Splice_Site	SNP	ENST00000316950.6	37	c.142_splice	CCDS12503.1																																																																																				0.438	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	Silent	283	1097	1	0	5.54837e-101	1	7.1369e-101	283	1097					T	37916864	G	T	37916864	5	4	79	1	0	0	0	0	0	0	1	0	18053	985	34	3	1924	3	ZNF569	19	37916864	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36806	37916864	21212119	19120	29437											
ZNF570	148268	broad.mit.edu	37	chr19	37966858	37966858	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctggattcttctcaaagaCatctgtacagtaatgtgatg	9	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37966858C>T	ENST00000330173.1	+	3	638	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(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)			TTCTCAAAGACATCTGTACAG	0.428																																						ENST00000330173.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(109-111)Cat>Tat		zinc finger protein 570							172	166	168					19																	37966858		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37966858C>T	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.109C>T	19.37:g.37966858C>T	ENSP00000331540:p.His37Tyr					ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.H93Y	p.H37Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	638	+			37			KRAB.		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.109C>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787338	0.31593	.	.	ENSG00000171827	ENST00000330173	T	0.01685	4.69	3.57	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	N	0.25825	0.765	0.19775	N	0.999951	P	0.42078	0.77	B	0.41271	0.352	T	0.51301	-0.8723	9	0.72032	D	0.01	.	10.5408	0.45031	0.0:0.7828:0.2172:0.0	.	37	Q96NI8	ZN570_HUMAN	Y	37	ENSP00000331540:H37Y	ENSP00000331540:H37Y	H	+	1	0	ZNF570	42658698	0.000000	0.05858	0.973000	0.42090	0.756000	0.42949	-0.054000	0.11826	1.822000	0.53115	0.467000	0.42956	CAT		0.428	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		79	344	0	0	0	1	0	79	344					T	37966858	C	T	37966858	3	4	79	1	0	0	0	0	1	0	0	0	18055	478	17	2	115	2	ZNF570	19	37966858	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49994	37966858	21162125	19121	29438											
ZNF570	148268	broad.mit.edu	37	chr19	37974942	37974942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctattttgaaaggcaaccaGgtaatcagaaggcgtgtttc	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37974942G>T	ENST00000330173.1	+	5	947	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	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)			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)			AAGGCAACCAGGTAATCAGAA	0.378																																						ENST00000330173.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(418-420)Ggt>Tgt		zinc finger protein 570							140	140	140					19																	37974942		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37974942G>T	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.418G>T	19.37:g.37974942G>T	ENSP00000331540:p.Gly140Cys					ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.G196C	p.G140C	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	947	+			140					A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.418G>T	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661220	0.14645	.	.	ENSG00000171827	ENST00000330173	T	0.04706	3.57	4.85	-1.08	0.09936	.	3.239520	0.01906	N	0.039487	T	0.05593	0.0147	L	0.52573	1.65	0.09310	N	0.999999	P	0.38167	0.621	B	0.36186	0.219	T	0.38972	-0.9636	10	0.21014	T	0.42	.	4.8816	0.13683	0.3478:0.0:0.51:0.1421	.	140	Q96NI8	ZN570_HUMAN	C	140	ENSP00000331540:G140C	ENSP00000331540:G140C	G	+	1	0	ZNF570	42666782	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	0.422000	0.21296	0.039000	0.15632	0.563000	0.77884	GGT		0.378	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		15	760	1	0	1.3612e-06	1	1.40558e-06	15	760					T	37974942	G	T	37974942	3	4	79	1	0	0	0	0	1	0	0	0	18055	1000	35	3	432	3	ZNF570	19	37974942	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8084	37974942	21154041	19122	29439											
ZNF793	390927	broad.mit.edu	37	chr19	38028164	38028164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagctttcacccagaacccgGcacttatgtataaaccagca	6	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028164G>T	ENST00000587143.1	+	6	839	c.604G>T	c.(604-606)Gca>Tca	p.A202S	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S|ZNF793_ENST00000445217.1_Missense_Mutation_p.A202S			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAACCCGGCACTTATGTA	0.468																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(604-606)Gca>Tca		zinc finger protein 793							34	35	35					19																	38028164		1879	4110	5989	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028164G>T	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.604G>T	19.37:g.38028164G>T	ENSP00000468605:p.Ala202Ser					ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.A202S|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.A202S	p.A202S			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	639	+			202					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.604G>T	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785053	0.00628	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.14266	2.52;2.52	4.02	1.7	0.24286	.	0.400235	0.18388	N	0.142751	T	0.04318	0.0119	N	0.04768	-0.165	0.09310	N	1	B	0.25667	0.131	B	0.25140	0.058	T	0.42515	-0.9447	10	0.02654	T	1	.	4.9178	0.13854	0.1195:0.2196:0.6609:0.0	.	202	E9PGN4	.	S	202;202;202;201	ENSP00000444355:A202S;ENSP00000396402:A202S	ENSP00000318811:A201S	A	+	1	0	ZNF793	42720004	0.000000	0.05858	0.078000	0.20375	0.254000	0.26022	-1.219000	0.02973	1.028000	0.39785	0.643000	0.83706	GCA		0.468	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		29	104	1	0	4.3181e-19	1	4.80867e-19	29	104					T	38028164	G	T	38028164	3	4	79	1	0	0	0	0	1	0	0	0	18218	1203	42	3	618	3	ZNF793	19	38028164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53222	38028164	21100819	19123	29440											
ZNF793	390927	broad.mit.edu	37	chr19	38028553	38028553	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacctcaatgtacatcgaaaAatgcacacaggagaaagacc	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028553A>C	ENST00000587143.1	+	6	1228	c.993A>C	c.(991-993)aaA>aaC	p.K331N	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N|ZNF793_ENST00000445217.1_Missense_Mutation_p.K331N			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACATCGAAAAATGCACACAG	0.453																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(991-993)aaA>aaC		zinc finger protein 793							89	100	96					19																	38028553		2168	4274	6442	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028553A>C	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.993A>C	19.37:g.38028553A>C	ENSP00000468605:p.Lys331Asn					ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.K331N|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.K331N	p.K331N			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1028	+			331					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.993A>C	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523175	0.64747	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.01084	5.36;5.36	4.13	3.11	0.35812	.	0.000000	0.39985	N	0.001207	T	0.02848	0.0085	L	0.48174	1.505	0.19945	N	0.999944	P	0.51791	0.948	P	0.57425	0.82	T	0.31806	-0.9930	10	0.87932	D	0	.	8.5071	0.33195	0.9037:0.0:0.0963:0.0	.	331	E9PGN4	.	N	331;331;331;330	ENSP00000444355:K331N;ENSP00000396402:K331N	ENSP00000318811:K330N	K	+	3	2	ZNF793	42720393	0.000000	0.05858	0.825000	0.32803	0.997000	0.91878	-0.968000	0.03817	0.737000	0.32582	0.528000	0.53228	AAA		0.453	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		28	159	0	0	0	1	0	28	159					C	38028553	A	C	38028553	3	2	79	1	0	0	0	0	1	0	0	0	18218	11	1	4	1007	4	ZNF793	19	38028553	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	389	38028553	21100430	19124	29441											
ZNF793	390927	broad.mit.edu	37	chr19	38028593	38028593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtatcgttgcagagaatgtGgaaaatccttcagccagaag	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028593G>A	ENST00000587143.1	+	6	1268	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.G345R|ZNF793_ENST00000445217.1_Missense_Mutation_p.G345R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	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)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGAATGTGGAAAATCCTT	0.448																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(1033-1035)Gga>Aga		zinc finger protein 793							90	100	96					19																	38028593		2161	4286	6447	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028593G>A	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.1033G>A	19.37:g.38028593G>A	ENSP00000468605:p.Gly345Arg					ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000587143.1_Missense_Mutation_p.G345R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000542455.1_Missense_Mutation_p.G345R	p.G345R			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1068	+			345					E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.1033G>A	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522078	0.85600	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.58506	0.33;0.33	4.13	4.13	0.48395	.	0.000000	0.36703	N	0.002453	T	0.75155	0.3811	M	0.75264	2.295	0.41158	D	0.986073	D	0.89917	1.0	D	0.87578	0.998	T	0.79619	-0.1728	10	0.72032	D	0.01	.	15.6579	0.77158	0.0:0.0:1.0:0.0	.	345	E9PGN4	.	R	345;345;345;344	ENSP00000444355:G345R;ENSP00000396402:G345R	ENSP00000318811:G344R	G	+	1	0	ZNF793	42720433	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.656000	0.61483	2.276000	0.75962	0.650000	0.86243	GGA		0.448	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		33	177	0	0	0	1	0	33	177					A	38028593	G	A	38028593	3	1	79	1	0	0	0	0	1	0	0	0	18218	1349	47	2	1047	2	ZNF793	19	38028593	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40	38028593	21100390	19125	29442											
ZNF540	163255	broad.mit.edu	37	chr19	38103199	38103199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagcttttagtgtatgcGgacaacttacccgtcatcag	10	9	2	0	rs571893947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38103199G>A	ENST00000592533.1	+	5	1350	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R|ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	340			G -> R. {ECO:0000269|PubMed:23033978}.		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)			TAGTGTATGCGGACAACTTAC	0.353																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(1018-1020)Gga>Aga		zinc finger protein 540							72	70	71					19																	38103199		2203	4300	6503	SO:0001583	missense	163255							g.chr19:38103199G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1018G>A	19.37:g.38103199G>A	ENSP00000466274:p.Gly340Arg					ZNF540_ENST00000316433.4_Missense_Mutation_p.G340R|ZNF540_ENST00000343599.5_Missense_Mutation_p.G340R|ZNF540_ENST00000589117.1_Missense_Mutation_p.G308R	p.G340R	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1350	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1018G>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662799	0.29515	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.10288	2.89	2.16	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.11673	0.155	0.09310	N	1	P;P	0.42757	0.789;0.684	B;B	0.36567	0.228;0.114	T	0.36456	-0.9747	9	0.51188	T	0.08	.	5.4742	0.16686	0.0:0.1763:0.5265:0.2972	.	308;340	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	340;308	ENSP00000324598:G340R	ENSP00000324598:G340R	G	+	1	0	ZNF540	42795039	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-4.809000	0.00183	0.211000	0.20683	0.305000	0.20034	GGA		0.353	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		53	244	0	0	0	1	0	53	244					A	38103199	G	A	38103199	3	1	79	1	0	0	0	0	1	0	0	0	18028	1117	39	1	1032	1	ZNF540	19	38103199	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74606	38103199	21025784	19126	29443											
ZNF607	84775	broad.mit.edu	37	chr19	38189413	38189413	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatgaacctaaaagacTtcccgcatttgttgcattca	6	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38189413T>G	ENST00000355202.4	-	5	2214	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			CCTAAAAGACTTCCCGCATTT	0.428																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(1618-1620)aAg>aCg		zinc finger protein 607							62	59	60					19																	38189413		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189413T>G	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.1619A>C	19.37:g.38189413T>G	ENSP00000347338:p.Lys540Thr					ZNF607_ENST00000395835.3_Missense_Mutation_p.K539T|CTD-2528L19.4_ENST00000586606.2_Intron	p.K540T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2214	-			540					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1619A>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225450	0.58668	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.07908	3.15;3.15	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	M	0.82923	2.615	0.32279	N	0.567864	D;D	0.89917	0.999;1.0	D;D	0.87578	0.984;0.998	T	0.32693	-0.9897	9	0.87932	D	0	.	9.1906	0.37197	0.0:0.0:0.0:1.0	.	540;539	Q96SK3;F5H141	ZN607_HUMAN;.	T	540;539	ENSP00000347338:K540T;ENSP00000438015:K539T	ENSP00000347338:K540T	K	-	2	0	ZNF607	42881253	0.958000	0.32768	0.213000	0.23690	0.027000	0.11550	3.507000	0.53371	1.028000	0.39785	0.459000	0.35465	AAG		0.428	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		60	304	0	0	0	1	0	60	304					G	38189413	T	G	38189413	3	3	79	1	0	0	0	0	1	0	0	0	18086	1609	56	4	475	4	ZNF607	19	38189413	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	86214	38189413	20939570	19127	29444											
ZNF607	84775	broad.mit.edu	37	chr19	38190380	38190380	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggtttctcaccataatgaaAtctatgatgtacagtaagtt	8	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38190380A>G	ENST00000355202.4	-	5	1247	c.652T>C	c.(652-654)Ttt>Ctt	p.F218L	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)			CCATAATGAAATCTATGATGT	0.423																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(652-654)Ttt>Ctt		zinc finger protein 607							106	105	105					19																	38190380		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190380A>G	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.652T>C	19.37:g.38190380A>G	ENSP00000347338:p.Phe218Leu					ZNF607_ENST00000395835.3_Missense_Mutation_p.F217L|CTD-2528L19.4_ENST00000586606.2_Intron	p.F218L	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1247	-			218					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.652T>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355955	0.41700	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.17370	2.28;2.28	1.91	0.798	0.18660	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.04355	-0.22	0.09310	N	0.999999	B;B	0.16603	0.002;0.018	B;B	0.10450	0.005;0.002	T	0.33240	-0.9876	9	0.54805	T	0.06	.	3.1323	0.06428	0.2608:0.0:0.1952:0.544	.	218;217	Q96SK3;F5H141	ZN607_HUMAN;.	L	218;217	ENSP00000347338:F218L;ENSP00000438015:F217L	ENSP00000347338:F218L	F	-	1	0	ZNF607	42882220	0.000000	0.05858	0.244000	0.24202	0.343000	0.28985	0.283000	0.18846	-0.034000	0.13713	0.459000	0.35465	TTT		0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		101	414	0	0	0	1	0	101	414					G	38190380	A	G	38190380	3	3	79	1	0	0	0	0	1	0	0	0	18086	101	4	4	1442	4	ZNF607	19	38190380	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	967	38190380	20938603	19128	29445											
ZNF573	126231	broad.mit.edu	37	chr19	38229915	38229915	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatagggtttctcaccagtAtgagttttccgatgttgaat	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229915A>G	ENST00000590414.2	-	4	1497	c.1476T>C	c.(1474-1476)caT>caC	p.H492H	ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000536220.1_Silent_p.H404H|ZNF573_ENST00000339503.4_Silent_p.H434H			Q86YE8	ZN573_HUMAN	zinc finger protein 573	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTCACCAGTATGAGTTTTCC	0.378																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1300-1302)caT>caC		zinc finger protein 573							80	79	80					19																	38229915		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229915A>G	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1476T>C	19.37:g.38229915A>G						ZNF573_ENST00000357309.3_Silent_p.H404H|ZNF573_ENST00000392138.1_Silent_p.H405H|ZNF573_ENST00000590414.2_Silent_p.H492H|ZNF573_ENST00000536220.1_Silent_p.H404H	p.H434H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1803	-			472					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.1302T>C	CCDS59381.1																																																																																				0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		83	373	0	0	0	1	0	83	373					G	38229915	A	G	38229915	2	3	79	1	0	0	0	0	0	0	0	1	18058	446	16	4		4	ZNF573	19	38229915	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39535	38229915	20899068	19129	29446											
ZNF573	126231	broad.mit.edu	37	chr19	38229999	38229999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaagtttcttaccagtGtgaatattctgatgtcgagt	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229999G>A	ENST00000590414.2	-	4	1413	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	ZNF573_ENST00000392138.1_Silent_p.H377H|ZNF573_ENST00000357309.3_Silent_p.H376H|ZNF573_ENST00000536220.1_Silent_p.H376H|ZNF573_ENST00000339503.4_Silent_p.H406H			Q86YE8	ZN573_HUMAN	zinc finger protein 573	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTTACCAGTGTGAATATTCT	0.358																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1216-1218)caC>caT		zinc finger protein 573							75	77	76					19																	38229999		2203	4300	6503	SO:0001819	synonymous_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229999G>A	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"Zinc fingers, C2H2-type", "-"	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1392C>T	19.37:g.38229999G>A						ZNF573_ENST00000357309.3_Silent_p.H376H|ZNF573_ENST00000392138.1_Silent_p.H377H|ZNF573_ENST00000590414.2_Silent_p.H464H|ZNF573_ENST00000536220.1_Silent_p.H376H	p.H406H	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1719	-			444					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Silent	SNP	ENST00000590414.2	37	c.1218C>T	CCDS59381.1																																																																																				0.358	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		94	424	0	0	0	1	0	94	424					A	38229999	G	A	38229999	2	1	79	1	0	0	0	0	0	0	0	1	18058	1368	48	2		2	ZNF573	19	38229999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84	38229999	20898984	19130	29447											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572967	38572967	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacacctcatggggggcggCggcggagccaagggggactc	18	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38572967C>T	ENST00000222345.6	+	3	1271	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	254					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)			TGGGGGGCGGCGGCGGAGCCA	0.697																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(760-762)ggC>ggT		signal-induced proliferation-associated 1 like 3							10	12	11					19																	38572967		1890	3777	5667	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572967C>T	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.762C>T	19.37:g.38572967C>T							p.G254G	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1271	+			254					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.762C>T	CCDS33007.1																																																																																				0.697	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		48	133	0	0	0	1	0	48	133					T	38572967	C	T	38572967	2	4	79	1	0	0	0	0	0	0	0	1	14381	755	27	1		1	SIPA1L3	19	38572967	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342968	38572967	20556016	19131	29448											
SIPA1L3	23094	broad.mit.edu	37	chr19	38600883	38600883	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctacggaagaggcAcataggaaatgacatcgtga	12	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38600883A>G	ENST00000222345.6	+	8	2659	c.2150A>G	c.(2149-2151)cAc>cGc	p.H717R	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	717	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAAGAGGCACATAGGAAAT	0.597																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2149-2151)cAc>cGc		signal-induced proliferation-associated 1 like 3							187	146	160					19																	38600883		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38600883A>G	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.2150A>G	19.37:g.38600883A>G	ENSP00000222345:p.His717Arg						p.H717R	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		8	2659	+			717			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2150A>G	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.329061	0.81690	.	.	ENSG00000105738	ENST00000222345	D	0.97138	-4.26	5.22	5.22	0.72569	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.99077	0.9683	H	0.98542	4.26	0.58432	D	0.999996	P	0.52061	0.95	D	0.71870	0.975	D	0.98988	1.0807	10	0.87932	D	0	-37.7634	14.0811	0.64922	1.0:0.0:0.0:0.0	.	717	O60292	SI1L3_HUMAN	R	717	ENSP00000222345:H717R	ENSP00000222345:H717R	H	+	2	0	SIPA1L3	43292723	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.339000	0.96797	1.991000	0.58162	0.454000	0.30748	CAC		0.597	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		26	624	0	0	0	1	0	26	624					G	38600883	A	G	38600883	3	3	79	1	0	0	0	0	1	0	0	0	14381	159	6	4	2172	4	SIPA1L3	19	38600883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27916	38600883	20528100	19132	29449											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610136	38610136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccaggagtatctcaaggacCtggccgaaaactgtgtctcc	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610136C>A	ENST00000222345.6	+	9	2991	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	828	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCAAGGACCTGGCCGAAAA	0.557																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2482-2484)Ctg>Atg		signal-induced proliferation-associated 1 like 3							90	77	81					19																	38610136		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610136C>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2482C>A	19.37:g.38610136C>A	ENSP00000222345:p.Leu828Met						p.L828M	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	2991	+			828			Rap-GAP.		Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2482C>A	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951204	0.73787	.	.	ENSG00000105738	ENST00000222345	D	0.95949	-3.86	5.75	4.72	0.59763	Rap/ran-GAP (2);	0.000000	0.64402	D	0.000001	D	0.96861	0.8975	M	0.72353	2.195	0.47341	D	0.999397	D	0.56746	0.977	D	0.70935	0.971	D	0.96927	0.9678	10	0.87932	D	0	-22.4447	10.6047	0.45388	0.0:0.8459:0.0:0.1541	.	828	O60292	SI1L3_HUMAN	M	828	ENSP00000222345:L828M	ENSP00000222345:L828M	L	+	1	2	SIPA1L3	43301976	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.356000	0.34079	1.451000	0.47736	-0.136000	0.14681	CTG		0.557	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		80	245	1	0	1.20111e-47	1	1.47919e-47	80	245					A	38610136	C	A	38610136	3	1	79	1	0	0	0	0	1	0	0	0	14381	680	24	3	2508	3	SIPA1L3	19	38610136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9253	38610136	20518847	19133	29450											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610224	38610224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccaagaagaaggaaaagaCaaaagcacgggctggcgctg	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610224C>T	ENST00000222345.6	+	9	3079	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	857					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)			AAGGAAAAGACAAAAGCACGG	0.577																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(2569-2571)aCa>aTa		signal-induced proliferation-associated 1 like 3							64	65	65					19																	38610224		2203	4300	6503	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38610224C>T	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.2570C>T	19.37:g.38610224C>T	ENSP00000222345:p.Thr857Ile						p.T857I	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	3079	+			857					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.2570C>T	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898448	0.33535	.	.	ENSG00000105738	ENST00000222345	T	0.46819	0.86	5.75	5.75	0.90469	.	0.236566	0.43747	D	0.000533	T	0.36193	0.0958	N	0.24115	0.695	0.38592	D	0.950444	B	0.28998	0.23	B	0.24394	0.053	T	0.16988	-1.0384	10	0.27082	T	0.32	-19.2917	18.7237	0.91705	0.0:1.0:0.0:0.0	.	857	O60292	SI1L3_HUMAN	I	857	ENSP00000222345:T857I	ENSP00000222345:T857I	T	+	2	0	SIPA1L3	43302064	0.031000	0.19500	0.987000	0.45799	0.937000	0.57800	1.188000	0.32102	2.725000	0.93324	0.655000	0.94253	ACA		0.577	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		58	263	0	0	0	1	0	58	263					T	38610224	C	T	38610224	3	4	79	1	0	0	0	0	1	0	0	0	14381	478	17	2	2596	2	SIPA1L3	19	38610224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	38610224	20518759	19134	29451											
DPF1	8193	broad.mit.edu	37	chr19	38706892	38706892	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacagtgccgtcgggcgcCttcttggctgcaagacagca	13	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38706892C>A	ENST00000420980.2	-	8	761	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000416611.1_Missense_Mutation_p.K263N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000414789.1_Missense_Mutation_p.K207N	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	245					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)			CGTCGGGCGCCTTCTTGGCTG	0.627																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(787-789)aaG>aaT		D4, zinc and double PHD fingers family 1							57	57	57					19																	38706892		2203	4300	6503	SO:0001583	missense	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38706892C>A	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.735G>T	19.37:g.38706892C>A	ENSP00000397354:p.Lys245Asn					DPF1_ENST00000456296.1_Missense_Mutation_p.K263N|DPF1_ENST00000355526.4_Missense_Mutation_p.K289N|DPF1_ENST00000414789.1_Missense_Mutation_p.K207N|DPF1_ENST00000412732.1_Missense_Mutation_p.K207N|DPF1_ENST00000420980.2_Missense_Mutation_p.K245N	p.K263N			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		9	912	-	all_cancers(60;1.24e-06)		245					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.789G>T	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.05|19.05	3.752436|3.752436	0.69533|0.69533	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060	.|D;D;D;D;D;T	.|0.91124	.|-2.24;-2.79;-2.29;-2.79;-2.76;2.25	4.39|4.39	3.35|3.35	0.38373|0.38373	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.93374|0.93374	0.7887|0.7887	M|M	0.74467|0.74467	2.265|2.265	0.47245|0.47245	D|D	0.999364|0.999364	.|D;D;D;D;D	.|0.89917	.|0.983;1.0;1.0;1.0;0.968	.|P;D;D;D;P	.|0.97110	.|0.725;0.999;0.996;1.0;0.694	D|D	0.92151|0.92151	0.5728|0.5728	5|10	.|0.66056	.|D	.|0.02	-17.6035|-17.6035	5.7908|5.7908	0.18359|0.18359	0.0:0.6829:0.0:0.3171|0.0:0.6829:0.0:0.3171	.|.	.|263;262;289;289;245	.|E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;DPF1_HUMAN	C|N	282|245;289;207;263;207;263;207	.|ENSP00000397354:K245N;ENSP00000412098:K207N;ENSP00000390223:K263N;ENSP00000391884:K207N;ENSP00000411569:K263N;ENSP00000416347:K207N	.|ENSP00000412098:K207N	G|K	-|-	1|3	0|2	DPF1|DPF1	43398732|43398732	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.917000|0.917000	0.54804|0.54804	2.245000|2.245000	0.43133|0.43133	1.163000|1.163000	0.42636|0.42636	0.561000|0.561000	0.74099|0.74099	GGC|AAG		0.627	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			64	204	1	0	5.73332e-34	1	6.80828e-34	64	204					A	38706892	C	A	38706892	3	1	79	1	0	0	0	0	1	0	0	0	4732	680	24	3	423	3	DPF1	19	38706892	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96668	38706892	20422091	19135	29452											
DPF1	8193	broad.mit.edu	37	chr19	38709239	38709239	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggccctgttcttcctccTgggaatgtcatcctccaagt	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38709239T>G	ENST00000420980.2	-	5	597	c.571A>C	c.(571-573)Agg>Cgg	p.R191R	DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000416611.1_Silent_p.R165R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000414789.1_Silent_p.R109R	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	191					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)			TTCTTCCTCCTGGGAATGTCA	0.537																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(493-495)Agg>Cgg		D4, zinc and double PHD fingers family 1							182	122	142					19																	38709239		2203	4300	6503	SO:0001819	synonymous_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38709239T>G	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.571A>C	19.37:g.38709239T>G						DPF1_ENST00000456296.1_Silent_p.R165R|DPF1_ENST00000355526.4_Silent_p.R191R|DPF1_ENST00000414789.1_Silent_p.R109R|DPF1_ENST00000412732.1_Silent_p.R109R|DPF1_ENST00000420980.2_Silent_p.R191R	p.R165R			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	616	-	all_cancers(60;1.24e-06)		191					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.493A>C	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	T	10.13	1.266022	0.23136	.	.	ENSG00000011332	ENST00000355526	.	.	.	3.26	2.11	0.27256	.	.	.	.	.	T	0.56543	0.1992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	4	.	.	.	-5.6764	8.3732	0.32427	0.0:0.0:0.2754:0.7246	.	.	.	.	P	183	.	.	Q	-	2	0	DPF1	43401079	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.946000	0.49050	1.478000	0.48253	0.383000	0.25322	CAG		0.537	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			52	287	0	0	0	1	0	52	287					G	38709239	T	G	38709239	2	3	79	1	0	0	0	0	0	0	0	1	4732	1579	55	4		4	DPF1	19	38709239	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2347	38709239	20419744	19136	29453											
KCNK6	9424	broad.mit.edu	37	chr19	38817849	38817849	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcctggtggccatgGtgctggtgctgcagaccttc	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817849G>T	ENST00000263372.3	+	3	855	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	250					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATGGTGCTGGTGCT	0.632																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(748-750)Gtg>Ttg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						67	49	55					19																	38817849		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817849G>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.748G>T	19.37:g.38817849G>T	ENSP00000263372:p.Val250Leu						p.V250L	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	855	+	all_cancers(60;5.83e-07)		250					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.748G>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	G	5.208	0.223951	0.09863	.	.	ENSG00000099337	ENST00000263372	T	0.27557	1.66	5.44	2.1	0.27182	Ion transport 2 (1);	0.377738	0.29868	N	0.010997	T	0.12646	0.0307	N	0.12961	0.28	0.31977	N	0.606432	B	0.12013	0.005	B	0.16289	0.015	T	0.28586	-1.0039	10	0.07644	T	0.81	.	4.5908	0.12306	0.2784:0.16:0.5616:0.0	.	250	Q9Y257	KCNK6_HUMAN	L	250	ENSP00000263372:V250L	ENSP00000263372:V250L	V	+	1	0	KCNK6	43509689	0.999000	0.42202	1.000000	0.80357	0.956000	0.61745	0.570000	0.23653	0.246000	0.21394	0.555000	0.69702	GTG		0.632	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		39	310	1	0	2.19489e-29	1	2.56362e-29	39	310					T	38817849	G	T	38817849	3	4	79	1	0	0	0	0	1	0	0	0	8100	1261	44	3	758	3	KCNK6	19	38817849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108610	38817849	20311134	19137	29454											
KCNK6	9424	broad.mit.edu	37	chr19	38817902	38817902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctccacggcctcacggaGctcatcctgctgccccctcc	8	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817902G>A	ENST00000263372.3	+	3	908	c.801G>A	c.(799-801)gaG>gaA	p.E267E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	267					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCCTCACGGAGCTCATCCTGC	0.647																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(799-801)gaG>gaA		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						71	60	63					19																	38817902		2203	4300	6503	SO:0001819	synonymous_variant	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817902G>A	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.801G>A	19.37:g.38817902G>A							p.E267E	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	908	+	all_cancers(60;5.83e-07)		267					Q9HB47	Silent	SNP	ENST00000263372.3	37	c.801G>A	CCDS12513.1																																																																																				0.647	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		68	336	0	0	0	1	0	68	336					A	38817902	G	A	38817902	2	1	79	1	0	0	0	0	0	0	0	1	8100	962	34	2		2	KCNK6	19	38817902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53	38817902	20311081	19138	29455											
KCNK6	9424	broad.mit.edu	37	chr19	38817988	38817988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgggcccccagccggagtCgcaccagcaactctctgcca	10	19	1	0	rs549369957		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817988C>T	ENST00000263372.3	+	3	994	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	296					negative regulation of systemic arterial blood pressure (GO:0003085)|potassium ion transport (GO:0006813)|regulation of resting membrane potential (GO:0060075)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CAGCCGGAGTCGCACCAGCAA	0.667																																						ENST00000263372.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17						c.(886-888)tCg>tTg		potassium channel, subfamily K, member 6	Ibutilide(DB00308)|Quinidine(DB00908)						56	55	55					19																	38817988		2203	4300	6503	SO:0001583	missense	9424					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:38817988C>T	AF117708	CCDS12513.1	19q13.1	2012-03-07				ENSG00000099337		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6281	protein-coding gene	gene with protein product		603939				10075682, 10393428, 16382106	Standard	NM_004823		Approved	K2p6.1, TWIK-2	uc002oic.3	Q9Y257		ENST00000263372.3:c.887C>T	19.37:g.38817988C>T	ENSP00000263372:p.Ser296Leu						p.S296L	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		3	994	+	all_cancers(60;5.83e-07)		296					Q9HB47	Missense_Mutation	SNP	ENST00000263372.3	37	c.887C>T	CCDS12513.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852002	0.32699	.	.	ENSG00000099337	ENST00000263372	T	0.22134	1.97	5.36	-0.937	0.10415	.	0.876074	0.10064	N	0.720521	T	0.07548	0.0190	N	0.03115	-0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.36187	-0.9758	10	0.28530	T	0.3	.	4.6572	0.12624	0.1452:0.4607:0.0:0.3941	.	296	Q9Y257	KCNK6_HUMAN	L	296	ENSP00000263372:S296L	ENSP00000263372:S296L	S	+	2	0	KCNK6	43509828	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.128000	0.15810	0.139000	0.18822	-0.219000	0.12488	TCG		0.667	KCNK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460524.1	NM_004823		11	365	0	0	0	1	0	11	365					T	38817988	C	T	38817988	3	4	79	1	0	0	0	0	1	0	0	0	8100	893	31	1	897	1	KCNK6	19	38817988	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	86	38817988	20310995	19139	29456											
CATSPERG	57828	broad.mit.edu	37	chr19	38852347	38852347	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggtgatgcgcctgcggaGcctgcccagtccgcagagat	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38852347G>A	ENST00000409235.3	+	17	2055	c.1940G>A	c.(1939-1941)aGc>aAc	p.S647N	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	647					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						CGCCTGCGGAGCCTGCCCAGT	0.672																																						ENST00000409235.3																			0				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						c.(1939-1941)aGc>aAc		catsper channel auxiliary subunit gamma							35	37	36					19																	38852347		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38852347G>A	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.1940G>A	19.37:g.38852347G>A	ENSP00000386962:p.Ser647Asn					CATSPERG_ENST00000410018.1_Missense_Mutation_p.S607N|CATSPERG_ENST00000215069.4_3'UTR	p.S647N	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			17	2055	+			647					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1940G>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726067	0.48833	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T;T	0.31769	1.48;1.48;1.48	4.67	3.63	0.41609	.	1.045340	0.07568	N	0.918079	T	0.16685	0.0401	N	0.08118	0	0.31922	N	0.613368	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27773	-1.0064	10	0.30078	T	0.28	-8.334	6.9527	0.24554	0.8913:0.0:0.1087:0.0	.	647;607	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	607;647;647	ENSP00000387057:S607N;ENSP00000386962:S647N;ENSP00000386950:S647N	ENSP00000386962:S647N	S	+	2	0	CATSPERG	43544187	0.102000	0.21896	0.081000	0.20488	0.025000	0.11179	2.917000	0.48821	0.643000	0.30638	-0.628000	0.03992	AGC		0.672	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	159	0	0	0	1	0	5	159					A	38852347	G	A	38852347	3	1	79	1	0	0	0	0	1	0	0	0	2699	971	34	2	2002	2	CATSPERG	19	38852347	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34359	38852347	20276636	19140	29457											
CATSPERG	57828	broad.mit.edu	37	chr19	38855715	38855715	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaggtggtgggttcatcCgggctctgcttccaggaaac	13	12	2	0	rs199784174	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38855715C>T	ENST00000409235.3	+	22	2686	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.S817S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	857					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						TGGGTTCATCCGGGCTCTGCT	0.622													C|||	22	0.00439297	0.0	0.0	5008	,	,		13665	0.0		0.0	False		,,,				2504	0.0225					ENST00000409235.3																			0				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						c.(2569-2571)tcC>tcT		catsper channel auxiliary subunit gamma							79	81	81					19																	38855715		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38855715C>T	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.2571C>T	19.37:g.38855715C>T						CATSPERG_ENST00000410018.1_Silent_p.S817S|CATSPERG_ENST00000215069.4_3'UTR	p.S857S	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			22	2686	+			857					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2571C>T	CCDS12514.2																																																																																				0.622	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		89	395	0	0	0	1	0	89	395					T	38855715	C	T	38855715	2	4	79	1	0	0	0	0	0	0	0	1	2699	639	23	1		1	CATSPERG	19	38855715	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3368	38855715	20273268	19141	29458											
CATSPERG	57828	broad.mit.edu	37	chr19	38858390	38858390	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gactacagtgaggacgaaatCtaccgcttcaacagccccct	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38858390C>A	ENST00000409235.3	+	25	3019	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.I928I	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	968					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						AGGACGAAATCTACCGCTTCA	0.592																																						ENST00000409235.3																			0				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						c.(2902-2904)atC>atA		catsper channel auxiliary subunit gamma							216	226	223					19																	38858390		2203	4300	6503	SO:0001819	synonymous_variant	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858390C>A	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.2904C>A	19.37:g.38858390C>A						CATSPERG_ENST00000410018.1_Silent_p.I928I|CATSPERG_ENST00000215069.4_3'UTR	p.I968I	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			25	3019	+			968					A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	c.2904C>A	CCDS12514.2																																																																																				0.592	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		66	1426	1	0	1.22674e-20	1	1.37621e-20	66	1426					A	38858390	C	A	38858390	2	1	79	1	0	0	0	0	0	0	0	1	2699	903	32	3		3	CATSPERG	19	38858390	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2675	38858390	20270593	19142	29459											
RYR1	6261	broad.mit.edu	37	chr19	38931486	38931486	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccgcctgtgcttcctggaGcccactagcaacgcgcaggt	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38931486G>T	ENST00000359596.3	+	2	147	c.147G>T	c.(145-147)gaG>gaT	p.E49D	RYR1_ENST00000355481.4_Missense_Mutation_p.E49D|RYR1_ENST00000360985.3_Missense_Mutation_p.E49D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	49					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)	GCTTCCTGGAGCCCACTAGCA	0.642																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(145-147)gaG>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						17	18	18					19																	38931486		2196	4285	6481	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38931486G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.147G>T	19.37:g.38931486G>T	ENSP00000352608:p.Glu49Asp					RYR1_ENST00000360985.3_Missense_Mutation_p.E49D|RYR1_ENST00000359596.3_Missense_Mutation_p.E49D	p.E49D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	278	+	all_cancers(60;7.91e-06)		49					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.147G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	12.53	1.966575	0.34659	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98602	-5.02;-5.02;-5.02	4.81	3.77	0.43336	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	U	0.000002	D	0.98541	0.9513	M	0.83953	2.67	0.34988	D	0.754759	D;D	0.76494	0.995;0.999	D;D	0.75020	0.975;0.985	D	0.99942	1.1427	10	0.87932	D	0	.	6.8359	0.23935	0.2168:0.0:0.7832:0.0	.	49;49	P21817-2;P21817	.;RYR1_HUMAN	D	49	ENSP00000352608:E49D;ENSP00000347667:E49D;ENSP00000354254:E49D	ENSP00000347667:E49D	E	+	3	2	RYR1	43623326	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.815000	0.27253	0.991000	0.38814	0.556000	0.70494	GAG		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			20	103	1	0	1.55795e-14	1	1.69389e-14	20	103					T	38931486	G	T	38931486	3	4	79	1	0	0	0	0	1	0	0	0	13818	962	34	3	153	3	RYR1	19	38931486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73096	38931486	20197497	19143	29460											
RYR1	6261	broad.mit.edu	37	chr19	38937111	38937111	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttcccttgctcctctccaGgcttcgtgacgggaggtcac	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38937111G>T	ENST00000359596.3	+	8	631		c.e8-1		RYR1_ENST00000355481.4_Splice_Site|RYR1_ENST00000360985.3_Splice_Site			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						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)	CTCCTCTCCAGGCTTCGTGAC	0.602																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e8-1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						68	57	61					19																	38937111		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937111G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.632-1G>T	19.37:g.38937111G>T						RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site		NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	762	+	all_cancers(60;7.91e-06)							Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37		CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041738	0.55003	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9087	0.79450	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR1	43628951	1.000000	0.71417	0.995000	0.50966	0.417000	0.31264	7.361000	0.79497	2.627000	0.88993	0.563000	0.77884	.		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Intron	47	178	1	0	9.58827e-17	1	1.05493e-16	47	178					T	38937111	G	T	38937111	5	4	79	1	0	0	0	0	0	0	1	0	13818	1014	35	3	661	3	RYR1	19	38937111	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5625	38937111	20191872	19144	29461											
RYR1	6261	broad.mit.edu	37	chr19	38956988	38956988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcctctgccaggccgtgcGcaccctcctgggctacggct	12	18	1	0	rs374776563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38956988G>A	ENST00000359596.3	+	24	3128	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	RYR1_ENST00000355481.4_Missense_Mutation_p.R1043H|RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1043	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.		R -> C (in MHS1). {ECO:0000269|PubMed:19191329}.|R -> H (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAGGCCGTGCGCACCCTCCTG	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3127-3129)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	HIS/ARG,HIS/ARG	0,4376		0,0,2188	25	24	24		3128,3128	2.9	1	19		24	3,8569		0,3,4283	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,3,6471	AA,AG,GG		0.035,0.0,0.0232	probably-damaging,probably-damaging	1043/5039,1043/5034	38956988	3,12945	2188	4286	6474	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38956988G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3128G>A	19.37:g.38956988G>A	ENSP00000352608:p.Arg1043His					RYR1_ENST00000360985.3_Missense_Mutation_p.R1043H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1043H	p.R1043H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3259	+	all_cancers(60;7.91e-06)		1043		R -> C (in MHS1).	6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3128G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	17.85	3.491232	0.64074	0.0	3.5E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92595	-3.07;-3.07;-3.07	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.96056	0.8715	M	0.86651	2.83	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.79784	0.978;0.993	D	0.96693	0.9512	10	0.72032	D	0.01	.	14.7726	0.69691	0.0:0.0:1.0:0.0	.	1043;1043	P21817-2;P21817	.;RYR1_HUMAN	H	1043	ENSP00000352608:R1043H;ENSP00000347667:R1043H;ENSP00000354254:R1043H	ENSP00000347667:R1043H	R	+	2	0	RYR1	43648828	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.451000	0.97610	1.988000	0.58038	0.444000	0.29173	CGC		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			15	54	0	0	0	1	0	15	54					A	38956988	G	A	38956988	3	1	79	1	0	0	0	0	1	0	0	0	13818	1087	38	1	3222	1	RYR1	19	38956988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19877	38956988	20171995	19145	29462											
RYR1	6261	broad.mit.edu	37	chr19	38959659	38959659	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcgcccctggcagccgggCgatgtcgttggctgtatgat	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38959659C>T	ENST00000359596.3	+	26	3435	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	RYR1_ENST00000355481.4_Silent_p.G1145G|RYR1_ENST00000360985.3_Silent_p.G1145G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1145	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCAGCCGGGCGATGTCGTTG	0.582																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3433-3435)ggC>ggT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						90	81	84					19																	38959659		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959659C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3435C>T	19.37:g.38959659C>T						RYR1_ENST00000360985.3_Silent_p.G1145G|RYR1_ENST00000359596.3_Silent_p.G1145G	p.G1145G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3566	+	all_cancers(60;7.91e-06)		1145			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3435C>T	CCDS33011.1																																																																																				0.582	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			69	291	0	0	0	1	0	69	291					T	38959659	C	T	38959659	2	4	79	1	0	0	0	0	0	0	0	1	13818	755	27	1		1	RYR1	19	38959659	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2671	38959659	20169324	19146	29463											
RYR1	6261	broad.mit.edu	37	chr19	38976414	38976414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctgccaggcccactgCgcgcaggctactatgacctc	10	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38976414C>T	ENST00000359596.3	+	34	5119	c.5119C>T	c.(5119-5121)Cgc>Tgc	p.R1707C	RYR1_ENST00000355481.4_Missense_Mutation_p.R1707C|RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1707	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)	AGGCCCACTGCGCGCAGGCTA	0.652																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5119-5121)Cgc>Tgc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						59	59	59					19																	38976414		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976414C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5119C>T	19.37:g.38976414C>T	ENSP00000352608:p.Arg1707Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.R1707C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1707C	p.R1707C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5250	+	all_cancers(60;7.91e-06)		1707			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5119C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987909	0.35036	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.74842	-0.88;-0.88;-0.88	3.98	2.87	0.33458	.	0.000000	0.64402	U	0.000007	D	0.86590	0.5969	M	0.87180	2.865	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89280	0.3611	10	0.87932	D	0	.	13.7048	0.62631	0.165:0.835:0.0:0.0	.	1707;1707	P21817-2;P21817	.;RYR1_HUMAN	C	1707	ENSP00000352608:R1707C;ENSP00000347667:R1707C;ENSP00000354254:R1707C	ENSP00000347667:R1707C	R	+	1	0	RYR1	43668254	1.000000	0.71417	0.935000	0.37517	0.263000	0.26337	4.695000	0.61767	2.048000	0.60808	0.585000	0.79938	CGC		0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			104	449	0	0	0	1	0	104	449					T	38976414	C	T	38976414	3	4	79	1	0	0	0	0	1	0	0	0	13818	768	27	1	5253	1	RYR1	19	38976414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16755	38976414	20152569	19147	29464											
RYR1	6261	broad.mit.edu	37	chr19	38993325	38993325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcgttcgctcaccaaggCgcagcgtgacgtcatcgagg	15	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38993325C>T	ENST00000359596.3	+	48	7793	c.7793C>T	c.(7792-7794)gCg>gTg	p.A2598V	RYR1_ENST00000355481.4_Missense_Mutation_p.A2598V|RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2598	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)	CTCACCAAGGCGCAGCGTGAC	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7792-7794)gCg>gTg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						69	56	61					19																	38993325		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38993325C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7793C>T	19.37:g.38993325C>T	ENSP00000352608:p.Ala2598Val					RYR1_ENST00000360985.3_Missense_Mutation_p.A2598V|RYR1_ENST00000359596.3_Missense_Mutation_p.A2598V	p.A2598V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		48	7924	+	all_cancers(60;7.91e-06)		2598			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7793C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823087	0.50739	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93307	-3.2;-3.2;-3.2	4.08	4.08	0.47627	.	0.000000	0.64402	U	0.000003	D	0.96306	0.8795	M	0.79475	2.455	0.53688	D	0.999971	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	D	0.96802	0.9590	10	0.72032	D	0.01	.	15.5776	0.76404	0.0:1.0:0.0:0.0	.	2598;2598	P21817-2;P21817	.;RYR1_HUMAN	V	2598	ENSP00000352608:A2598V;ENSP00000347667:A2598V;ENSP00000354254:A2598V	ENSP00000347667:A2598V	A	+	2	0	RYR1	43685165	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.500000	0.81588	2.265000	0.75225	0.467000	0.42956	GCG		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			43	198	0	0	0	1	0	43	198					T	38993325	C	T	38993325	3	4	79	1	0	0	0	0	1	0	0	0	13818	768	27	1	7983	1	RYR1	19	38993325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16911	38993325	20135658	19148	29465											
RYR1	6261	broad.mit.edu	37	chr19	38996982	38996982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctacaaccctcagccccccGaccttagtgctgttaccctg	7	18	1	0	rs138647599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38996982G>A	ENST00000359596.3	+	55	8581	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_ENST00000355481.4_Missense_Mutation_p.D2861N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2861	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)	TCAGCCCCCCGACCTTAGTGC	0.607																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(8581-8583)Gac>Aac		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	58	57	57		8581,8581	3.5	1	19	dbSNP_134	57	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	2861/5039,2861/5034	38996982	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38996982G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.8581G>A	19.37:g.38996982G>A	ENSP00000352608:p.Asp2861Asn					RYR1_ENST00000360985.3_Missense_Mutation_p.D2861N|RYR1_ENST00000359596.3_Missense_Mutation_p.D2861N	p.D2861N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		55	8712	+	all_cancers(60;7.91e-06)		2861			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.8581G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862678	0.51482	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94000	-3.33;-3.33;-3.33	3.47	3.47	0.39725	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000003	D	0.96059	0.8716	M	0.79475	2.455	0.49389	D	0.999782	D;B	0.67145	0.996;0.171	D;B	0.71870	0.975;0.009	D	0.96570	0.9422	10	0.87932	D	0	.	14.2529	0.66031	0.0:0.0:1.0:0.0	.	2861;2861	P21817-2;P21817	.;RYR1_HUMAN	N	2861	ENSP00000352608:D2861N;ENSP00000347667:D2861N;ENSP00000354254:D2861N	ENSP00000347667:D2861N	D	+	1	0	RYR1	43688822	1.000000	0.71417	0.985000	0.45067	0.455000	0.32408	7.250000	0.78287	1.952000	0.56665	0.305000	0.20034	GAC		0.607	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			62	323	0	0	0	1	0	62	323					A	38996982	G	A	38996982	3	1	79	1	0	0	0	0	1	0	0	0	13818	1058	37	1	8799	1	RYR1	19	38996982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3657	38996982	20132001	19149	29466											
RYR1	6261	broad.mit.edu	37	chr19	39008036	39008036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtggaggagatgtgtccCgacatcccggtgctggagcg	17	9	0	1	rs199828145	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39008036C>T	ENST00000359596.3	+	66	9723	c.9723C>T	c.(9721-9723)ccC>ccT	p.P3241P	RYR1_ENST00000355481.4_Silent_p.P3241P|RYR1_ENST00000360985.3_Silent_p.P3241P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3241					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)	AGATGTGTCCCGACATCCCGG	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		12272	0.0		0.0	False		,,,				2504	0.002					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9721-9723)ccC>ccT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						42	43	43					19																	39008036		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008036C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9723C>T	19.37:g.39008036C>T						RYR1_ENST00000360985.3_Silent_p.P3241P|RYR1_ENST00000359596.3_Silent_p.P3241P	p.P3241P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	9854	+	all_cancers(60;7.91e-06)		3241					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.9723C>T	CCDS33011.1																																																																																				0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			6	300	0	0	0	1	0	6	300					T	39008036	C	T	39008036	2	4	79	1	0	0	0	0	0	0	0	1	13818	639	23	1		1	RYR1	19	39008036	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11054	39008036	20120947	19150	29467											
RYR1	6261	broad.mit.edu	37	chr19	39013945	39013945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacaacaaaagcaaaatggCtaaggtcggggcttggttct	12	7	1	1	rs370080658		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39013945C>A	ENST00000359596.3	+	69	10436	c.10436C>A	c.(10435-10437)gCt>gAt	p.A3479D	RYR1_ENST00000355481.4_Missense_Mutation_p.A3479D|RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3479					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)	AGCAAAATGGCTAAGGTCGGG	0.567																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10435-10437)gCt>gAt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						130	111	118					19																	39013945		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39013945C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10436C>A	19.37:g.39013945C>A	ENSP00000352608:p.Ala3479Asp					RYR1_ENST00000360985.3_Missense_Mutation_p.A3479D|RYR1_ENST00000359596.3_Missense_Mutation_p.A3479D	p.A3479D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		69	10567	+	all_cancers(60;7.91e-06)		3479					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10436C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	5.634	0.301591	0.10678	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96885	-4.16;-4.14;-4.16	2.68	2.68	0.31781	.	0.330102	0.27147	U	0.020710	D	0.91327	0.7265	L	0.34521	1.04	0.37387	D	0.912296	P;P;B	0.36535	0.557;0.557;0.075	B;B;B	0.25140	0.058;0.058;0.023	D	0.92745	0.6211	10	0.62326	D	0.03	.	13.3384	0.60530	0.0:1.0:0.0:0.0	.	3479;3479;3479	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3479;3479;3479;399	ENSP00000352608:A3479D;ENSP00000347667:A3479D;ENSP00000354254:A3479D	ENSP00000347667:A3479D	A	+	2	0	RYR1	43705785	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	4.622000	0.61240	1.524000	0.49035	0.313000	0.20887	GCT		0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			31	663	1	0	5.91797e-21	1	6.65236e-21	31	663					A	39013945	C	A	39013945	3	1	79	1	0	0	0	0	1	0	0	0	13818	797	28	3	10710	3	RYR1	19	39013945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5909	39013945	20115038	19151	29468											
RYR1	6261	broad.mit.edu	37	chr19	39028579	39028579	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttccgattcctacaattgCtctgtgaggggcacaataat	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39028579C>A	ENST00000359596.3	+	84	11668	c.11668C>A	c.(11668-11670)Ctc>Atc	p.L3890I	RYR1_ENST00000355481.4_Missense_Mutation_p.L3885I|RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I|AC067969.2_ENST00000595853.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3890					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)	CCTACAATTGCTCTGTGAGGG	0.562																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(11653-11655)Ctc>Atc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						138	112	121					19																	39028579		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39028579C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11668C>A	19.37:g.39028579C>A	ENSP00000352608:p.Leu3890Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.L3885I|RYR1_ENST00000359596.3_Missense_Mutation_p.L3890I	p.L3885I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		83	11784	+	all_cancers(60;7.91e-06)		3890					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.11653C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258412	0.39896	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.70516	-0.49;-0.49;-0.49	4.85	3.8	0.43715	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000016	D	0.83004	0.5160	M	0.80616	2.505	0.46874	D	0.999236	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67103	0.915;0.915;0.949	D	0.85657	0.1286	10	0.62326	D	0.03	.	14.3277	0.66530	0.0:0.8499:0.1501:0.0	.	3885;3885;3890	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	I	3890;3885;3885	ENSP00000352608:L3890I;ENSP00000347667:L3885I;ENSP00000354254:L3885I	ENSP00000347667:L3885I	L	+	1	0	RYR1	43720419	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	5.564000	0.67359	1.386000	0.46466	0.546000	0.68486	CTC		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			78	451	1	0	9.25274e-37	1	1.1089e-36	78	451					A	39028579	C	A	39028579	3	1	79	1	0	0	0	0	1	0	0	0	13818	797	28	3	12002	3	RYR1	19	39028579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14634	39028579	20100404	19152	29469											
RYR1	6261	broad.mit.edu	37	chr19	39038920	39038920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagatggtggacatgctcGtggaatcctcatccaatgtg	13	9	1	1	rs368835421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39038920G>A	ENST00000359596.3	+	89	12142	c.12142G>A	c.(12142-12144)Gtg>Atg	p.V4048M	RYR1_ENST00000355481.4_Missense_Mutation_p.V4043M|RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4048					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)	GGACATGCTCGTGGAATCCTC	0.567																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12127-12129)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						181	129	147					19																	39038920		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39038920G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12142G>A	19.37:g.39038920G>A	ENSP00000352608:p.Val4048Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V4043M|RYR1_ENST00000359596.3_Missense_Mutation_p.V4048M	p.V4043M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12258	+	all_cancers(60;7.91e-06)		4048					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12127G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696920	0.48202	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97505	-4.41;-4.41;-4.38	4.51	4.51	0.55191	.	0.000000	0.64402	U	0.000014	D	0.98362	0.9456	M	0.80982	2.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.994	D	0.99372	1.0920	10	0.87932	D	0	.	17.3882	0.87422	0.0:0.0:1.0:0.0	.	4043;4043;4048	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	M	4048;4043;4043	ENSP00000352608:V4048M;ENSP00000347667:V4043M;ENSP00000354254:V4043M	ENSP00000347667:V4043M	V	+	1	0	RYR1	43730760	1.000000	0.71417	0.969000	0.41365	0.903000	0.53119	9.520000	0.98027	2.518000	0.84900	0.561000	0.74099	GTG		0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	345	0	0	0	1	0	9	345					A	39038920	G	A	39038920	3	1	79	1	0	0	0	0	1	0	0	0	13818	1145	40	1	12496	1	RYR1	19	39038920	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10341	39038920	20090063	19153	29470											
RYR1	6261	broad.mit.edu	37	chr19	39058490	39058490	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcacctccctcaccccCtccaaagaaggaggaagctg	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39058490C>A	ENST00000359596.3	+	93	13592	c.13592C>A	c.(13591-13593)cCt>cAt	p.P4531H	RYR1_ENST00000355481.4_Missense_Mutation_p.P4526H|RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4531	Pro-rich.				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)	CCCTCACCCCCTCCAAAGAAG	0.587																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(13576-13578)cCt>cAt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						71	74	73					19																	39058490		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39058490C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13592C>A	19.37:g.39058490C>A	ENSP00000352608:p.Pro4531His					RYR1_ENST00000360985.3_Missense_Mutation_p.P4526H|RYR1_ENST00000359596.3_Missense_Mutation_p.P4531H	p.P4526H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		92	13708	+	all_cancers(60;7.91e-06)		4531			Pro-rich.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.13577C>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	9.837	1.190062	0.21954	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93076	-3.16;-3.16;-3.16	5.06	2.91	0.33838	Ryanodine Receptor TM 4-6 (1);	0.366933	0.23894	U	0.043517	D	0.89248	0.6661	L	0.60455	1.87	0.22412	N	0.999127	B;B	0.12630	0.004;0.006	B;B	0.09377	0.003;0.004	T	0.76446	-0.2956	10	0.23891	T	0.37	.	7.9499	0.30008	0.1595:0.7556:0.0:0.0849	.	4526;4531	P21817-2;P21817	.;RYR1_HUMAN	H	4531;4526;4526	ENSP00000352608:P4531H;ENSP00000347667:P4526H;ENSP00000354254:P4526H	ENSP00000347667:P4526H	P	+	2	0	RYR1	43750330	0.577000	0.26708	0.987000	0.45799	0.855000	0.48748	0.837000	0.27558	0.711000	0.32018	0.491000	0.48974	CCT		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			73	316	1	0	6.5469e-37	1	7.85029e-37	73	316					A	39058490	C	A	39058490	3	1	79	1	0	0	0	0	1	0	0	0	13818	681	24	3	13962	3	RYR1	19	39058490	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19570	39058490	20070493	19154	29471											
RYR1	6261	broad.mit.edu	37	chr19	39062895	39062895	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctttctctgcatcattggCtataattgtctcaaggtggg	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39062895C>T	ENST00000359596.3	+	95	13983	c.13983C>T	c.(13981-13983)ggC>ggT	p.G4661G	RYR1_ENST00000355481.4_Silent_p.G4656G|RYR1_ENST00000360985.3_Silent_p.G4656G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4661					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)	GCATCATTGGCTATAATTGTC	0.597																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(13966-13968)ggC>ggT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						97	86	90					19																	39062895		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39062895C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13983C>T	19.37:g.39062895C>T						RYR1_ENST00000360985.3_Silent_p.G4656G|RYR1_ENST00000359596.3_Silent_p.G4661G	p.G4656G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		94	14099	+	all_cancers(60;7.91e-06)		4661					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.13968C>T	CCDS33011.1																																																																																				0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			50	430	0	0	0	1	0	50	430					T	39062895	C	T	39062895	2	4	79	1	0	0	0	0	0	0	0	1	13818	784	28	2		2	RYR1	19	39062895	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4405	39062895	20066088	19155	29472											
RYR1	6261	broad.mit.edu	37	chr19	39063833	39063833	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgcccctggtaatctTtaagcgggagaaggagctgg	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39063833T>G	ENST00000359596.3	+	96	14015	c.14015T>G	c.(14014-14016)tTt>tGt	p.F4672C	RYR1_ENST00000355481.4_Missense_Mutation_p.F4667C|RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4672					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)	CTGGTAATCTTTAAGCGGGAG	0.592																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(13999-14001)tTt>tGt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						82	78	79					19																	39063833		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39063833T>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14015T>G	19.37:g.39063833T>G	ENSP00000352608:p.Phe4672Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.F4667C|RYR1_ENST00000359596.3_Missense_Mutation_p.F4672C	p.F4667C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		95	14131	+	all_cancers(60;7.91e-06)		4672					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14000T>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098369	0.37048	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.99121	-5.45;-5.44;-5.44	4.39	4.39	0.52855	.	0.000000	0.64402	U	0.000001	D	0.99233	0.9733	M	0.84948	2.725	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	13.4287	0.61042	0.0:0.0:0.0:1.0	.	4667;4672	P21817-2;P21817	.;RYR1_HUMAN	C	4672;4667;4667	ENSP00000352608:F4672C;ENSP00000347667:F4667C;ENSP00000354254:F4667C	ENSP00000347667:F4667C	F	+	2	0	RYR1	43755673	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.711000	0.84669	1.858000	0.53909	0.260000	0.18958	TTT		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			78	293	0	0	0	1	0	78	293					G	39063833	T	G	39063833	3	3	79	1	0	0	0	0	1	0	0	0	13818	1841	64	4	14397	4	RYR1	19	39063833	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	938	39063833	20065150	19156	29473											
MAP4K1	11184	broad.mit.edu	37	chr19	39087084	39087084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcctggcccggtcagcaGcgcgaacacggacagaggcg	16	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087084G>A	ENST00000591517.1	-	26	2012	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Silent_p.L662L|MAP4K1_ENST00000589130.1_Silent_p.L658L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	662	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGTCAGCAGCGCGAACACG	0.726																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1984-1986)Ctg>Ttg		mitogen-activated protein kinase kinase kinase kinase 1							9	12	11					19																	39087084		1961	4117	6078	SO:0001819	synonymous_variant	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39087084G>A	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1984C>T	19.37:g.39087084G>A						MAP4K1_ENST00000589130.1_Silent_p.L658L|MAP4K1_ENST00000396857.2_Silent_p.L662L|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	p.L662L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	2012	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		662			CNH.			Silent	SNP	ENST00000591517.1	37	c.1984C>T	CCDS59385.1																																																																																				0.726	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		16	55	0	0	0	1	0	16	55					A	39087084	G	A	39087084	2	1	79	1	0	0	0	0	0	0	0	1	9300	962	34	2		2	MAP4K1	19	39087084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23251	39087084	20041899	19157	29474											
MAP4K1	11184	broad.mit.edu	37	chr19	39087996	39087996	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcccggcagcctttggtgtCctggatcttggtggaaacca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087996C>T	ENST00000591517.1	-	24	1835	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	603	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTGGTGTCCTGGATCTTG	0.592																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1807-1809)Gac>Aac		mitogen-activated protein kinase kinase kinase kinase 1							149	162	157					19																	39087996		2094	4224	6318	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39087996C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1807G>A	19.37:g.39087996C>T	ENSP00000465039:p.Asp603Asn					MAP4K1_ENST00000423454.2_3'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.D599N|MAP4K1_ENST00000396857.2_Missense_Mutation_p.D603N|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	p.D603N	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	1835	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		603			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1807G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600510	0.96614	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.05447	3.44	5.25	4.21	0.49690	Citron-like (3);	0.235175	0.41097	D	0.000948	T	0.20455	0.0492	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.975;0.986	T	0.00420	-1.1750	10	0.54805	T	0.06	.	12.5387	0.56156	0.1672:0.8328:0.0:0.0	.	603;603	Q92918-2;Q92918	.;M4K1_HUMAN	N	603	ENSP00000380066:D603N	ENSP00000221409:D603N	D	-	1	0	MAP4K1	43779836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.358000	0.66064	1.439000	0.47511	0.555000	0.69702	GAC		0.592	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		256	1217	0	0	0	1	0	256	1217					T	39087996	C	T	39087996	3	4	79	1	0	0	0	0	1	0	0	0	9300	855	30	2	792	2	MAP4K1	19	39087996	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912	39087996	20040987	19158	29475											
MAP4K1	11184	broad.mit.edu	37	chr19	39090764	39090764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggttcaggatgaagatgcCttcctctgcccccaggagca	11	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39090764C>T	ENST00000591517.1	-	21	1589	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	521	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAAGATGCCTTCCTCTGCC	0.632																																						ENST00000591517.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(1561-1563)Ggc>Agc		mitogen-activated protein kinase kinase kinase kinase 1							51	54	53					19																	39090764		2060	4195	6255	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39090764C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6863	protein-coding gene	gene with protein product	"hematopoietic progenitor kinase 1"	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1561G>A	19.37:g.39090764C>T	ENSP00000465039:p.Gly521Ser					MAP4K1_ENST00000423454.2_Missense_Mutation_p.G183S|MAP4K1_ENST00000589130.1_Missense_Mutation_p.G517S|MAP4K1_ENST00000396857.2_Missense_Mutation_p.G521S|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron	p.G521S	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		21	1589	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		521			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.1561G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	33	5.253734	0.95336	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.25085	1.82;1.82	4.93	4.93	0.64822	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.80183	2.485	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.58713	-0.7588	10	0.87932	D	0	.	15.2164	0.73270	0.0:1.0:0.0:0.0	.	183;521;521	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	S	521;521;183	ENSP00000380066:G521S;ENSP00000396383:G183S	ENSP00000221409:G521S	G	-	1	0	MAP4K1	43782604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.603000	0.67619	2.578000	0.87016	0.555000	0.69702	GGC		0.632	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		52	221	0	0	0	1	0	52	221					T	39090764	C	T	39090764	3	4	79	1	0	0	0	0	1	0	0	0	9300	681	24	2	1050	2	MAP4K1	19	39090764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2768	39090764	20038219	19159	29476											
EIF3K	27335	broad.mit.edu	37	chr19	39116677	39116677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcctcccagcaagaagaaCggccaatccgacagattttg	8	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39116677C>T	ENST00000538434.1	+	3	263	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W|EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W|EIF3K_ENST00000545173.2_Missense_Mutation_p.R97W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W					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)			GCAAGAAGAACGGCCAATCCG	0.582																																						ENST00000545173.2																		EIF3K/CYP39A1(2)	0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(289-291)Cgg>Tgg		eukaryotic translation initiation factor 3, subunit K							135	118	123					19																	39116677		2203	4300	6503	SO:0001583	missense	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39116677C>T	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.28C>T	19.37:g.39116677C>T	ENSP00000440999:p.Arg10Trp					EIF3K_ENST00000248342.4_Missense_Mutation_p.R97W|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000588934.1_Missense_Mutation_p.R97W|EIF3K_ENST00000593149.1_Missense_Mutation_p.R10W|EIF3K_ENST00000538434.1_Missense_Mutation_p.R10W|EIF3K_ENST00000592558.1_Missense_Mutation_p.R97W	p.R97W			Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	365	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		97						Missense_Mutation	SNP	ENST00000538434.1	37	c.289C>T		.	.	.	.	.	.	.	.	.	.	C	9.506	1.104402	0.20632	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	4.29	1.93	0.25924	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.43211	0.1237	N	0.22421	0.69	0.50467	D	0.999876	B;B;B	0.14805	0.011;0.003;0.006	B;B;B	0.13407	0.003;0.009;0.009	T	0.41124	-0.9526	9	0.87932	D	0	-25.1521	13.4671	0.61260	0.3402:0.6598:0.0:0.0	.	10;97;97	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	W	97;10;97	.	ENSP00000248342:R97W	R	+	1	2	EIF3K	43808517	1.000000	0.71417	0.996000	0.52242	0.461000	0.32589	1.898000	0.39809	0.521000	0.28445	-1.357000	0.01221	CGG		0.582	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	NM_013234		128	616	0	0	0	1	0	128	616					T	39116677	C	T	39116677	3	4	79	1	0	0	0	0	1	0	0	0	5039	527	19	1	303	1	EIF3K	19	39116677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25913	39116677	20012306	19160	29477											
CAPN12	147968	broad.mit.edu	37	chr19	39228155	39228155	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccggagttgaagccacgcacCcagcggccttggaaggtgtg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39228155C>A	ENST00000328867.4	-	9	1397	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	363	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGCCACGCACCCAGCGGCCTT	0.701																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1087-1089)tgG>tgT		calpain 12							25	31	29					19																	39228155		2199	4291	6490	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39228155C>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1089G>T	19.37:g.39228155C>A	ENSP00000331636:p.Trp363Cys					CAPN12_ENST00000601953.1_Missense_Mutation_p.W214C	p.W363C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		9	1397	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		363			Domain III.			Missense_Mutation	SNP	ENST00000328867.4	37	c.1089G>T	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333993	0.81801	.	.	ENSG00000182472	ENST00000328867	D	0.95853	-3.83	3.76	3.76	0.43208	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98858	1.0761	10	0.87932	D	0	.	13.4367	0.61088	0.0:1.0:0.0:0.0	.	363	Q6ZSI9	CAN12_HUMAN	C	363	ENSP00000331636:W363C	ENSP00000331636:W363C	W	-	3	0	CAPN12	43919995	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.044000	0.64214	2.086000	0.62901	0.555000	0.69702	TGG		0.701	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			8	367	1	0	0.00307968	1	0.00310409	8	367					A	39228155	C	A	39228155	3	1	79	1	0	0	0	0	1	0	0	0	2632	624	22	3	1122	3	CAPN12	19	39228155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	111478	39228155	19900828	19161	29478											
CAPN12	147968	broad.mit.edu	37	chr19	39233119	39233119	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaccacccggcgcaggagCcggggatacagagtaaggga	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39233119C>T	ENST00000328867.4	-	3	665	c.357G>A	c.(355-357)cgG>cgA	p.R119R	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_5'UTR	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	119	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)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCGCAGGAGCCGGGGATACA	0.622																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(355-357)cgG>cgA		calpain 12							57	51	53					19																	39233119		2203	4300	6503	SO:0001819	synonymous_variant	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39233119C>T	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.357G>A	19.37:g.39233119C>T						CAPN12_ENST00000601953.1_5'UTR	p.R119R	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	665	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		119			Calpain catalytic.			Silent	SNP	ENST00000328867.4	37	c.357G>A	CCDS12519.1																																																																																				0.622	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			25	165	0	0	0	1	0	25	165					T	39233119	C	T	39233119	2	4	79	1	0	0	0	0	0	0	0	1	2632	726	26	2		2	CAPN12	19	39233119	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4964	39233119	19895864	19162	29479											
LGALS4	3960	broad.mit.edu	37	chr19	39292481	39292481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaggccgagaggcgatGggcaaagtcaaagaggtgct	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292481G>A	ENST00000307751.4	-	10	1372	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	299	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)			GAGAGGCGATGGGCAAAGTCA	0.547																																						ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(895-897)Cat>Tat		lectin, galactoside-binding, soluble, 4							90	77	81					19																	39292481		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292481G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.895C>T	19.37:g.39292481G>A	ENSP00000302100:p.His299Tyr						p.H299Y	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1372	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		299			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.895C>T	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034770	0.54896	.	.	ENSG00000171747	ENST00000307751	T	0.04970	3.52	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.81802	2.56	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.02617	-1.1133	10	0.87932	D	0	-25.5554	17.3497	0.87320	0.0:0.0:1.0:0.0	.	299	P56470	LEG4_HUMAN	Y	299	ENSP00000302100:H299Y	ENSP00000302100:H299Y	H	-	1	0	LGALS4	43984321	1.000000	0.71417	0.716000	0.30569	0.023000	0.10783	6.365000	0.73090	2.397000	0.81536	0.491000	0.48974	CAT		0.547	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		12	436	0	0	0	1	0	12	436					A	39292481	G	A	39292481	3	1	79	1	0	0	0	0	1	0	0	0	8776	1348	47	2	80	2	LGALS4	19	39292481	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59362	39292481	19836502	19163	29480											
LGALS4	3960	broad.mit.edu	37	chr19	39292728	39292728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttccggaccacggtaccGttgcccatgcggggattaat	12	12	0	0	rs368398848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292728G>A	ENST00000307751.4	-	9	1206	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	243	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)			CCACGGTACCGTTGCCCATGC	0.552																																						ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(727-729)aaC>aaT		lectin, galactoside-binding, soluble, 4		G		0,4406		0,0,2203	68	61	64		729	-6.2	0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LGALS4	NM_006149.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		243/324	39292728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292728G>A		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.729C>T	19.37:g.39292728G>A							p.N243N	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		9	1206	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		243			Galectin 2.			Silent	SNP	ENST00000307751.4	37	c.729C>T	CCDS12521.1																																																																																				0.552	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		54	247	0	0	0	1	0	54	247					A	39292728	G	A	39292728	2	1	79	1	0	0	0	0	0	0	0	1	8776	1136	40	1		1	LGALS4	19	39292728	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247	39292728	19836255	19164	29481											
LGALS4	3960	broad.mit.edu	37	chr19	39294407	39294407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgttcagctgttgatggCaatgtccgggaccctgaacg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39294407C>T	ENST00000307751.4	-	6	992	c.515G>A	c.(514-516)tGc>tAc	p.C172Y	LGALS4_ENST00000597803.1_5'Flank	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	172					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)			CTGTTGATGGCAATGTCCGGG	0.607																																						ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(514-516)tGc>tAc		lectin, galactoside-binding, soluble, 4							54	54	54					19																	39294407		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39294407C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"Lectins, galactoside-binding"	6565	protein-coding gene	gene with protein product	"galectin 4"	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.515G>A	19.37:g.39294407C>T	ENSP00000302100:p.Cys172Tyr						p.C172Y	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		6	992	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		172						Missense_Mutation	SNP	ENST00000307751.4	37	c.515G>A	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513905	0.00975	.	.	ENSG00000171747	ENST00000307751	T	0.04758	3.56	4.97	-9.95	0.00446	.	4.500960	0.00166	N	0.000001	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	10	0.02654	T	1	2.524	3.8296	0.08868	0.0939:0.1841:0.4266:0.2954	.	172	P56470	LEG4_HUMAN	Y	172	ENSP00000302100:C172Y	ENSP00000302100:C172Y	C	-	2	0	LGALS4	43986247	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.699000	0.01906	-1.700000	0.01414	-1.291000	0.01355	TGC		0.607	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		23	117	0	0	0	1	0	23	117					T	39294407	C	T	39294407	3	4	79	1	0	0	0	0	1	0	0	0	8776	710	25	2	476	2	LGALS4	19	39294407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1679	39294407	19834576	19165	29482											
RINL	126432	broad.mit.edu	37	chr19	39360243	39360243	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatctggatctaagaGctccataagaaactctacgt	7	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360243G>T	ENST00000591812.1	-	10	1530	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.L368I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.L368I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	482	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGATCTAAGAGCTCCATAAGA	0.632											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340740.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(1102-1104)Ctc>Atc		Ras and Rab interactor-like							61	68	66					19																	39360243		2203	4300	6503	SO:0001583	missense	126432						GTPase activator activity	g.chr19:39360243G>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1444C>A	19.37:g.39360243G>T	ENSP00000467107:p.Leu482Ile		OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	RINL_ENST00000591812.1_Missense_Mutation_p.L482I|RINL_ENST00000598904.1_Missense_Mutation_p.L368I	p.L368I	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			10	1489	-			368			VPS9.		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	c.1102C>A	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952248	0.73787	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.37235	1.21	5.27	4.17	0.49024	Vacuolar sorting protein 9 (2);	0.069635	0.56097	D	0.000024	T	0.43010	0.1228	L	0.57536	1.79	0.41040	D	0.985222	P;P	0.47484	0.896;0.747	P;P	0.49853	0.624;0.624	T	0.36456	-0.9747	10	0.52906	T	0.07	-23.169	11.7106	0.51623	0.0:0.0:0.8239:0.1761	.	482;368	B4DPG5;Q6ZS11	.;RINL_HUMAN	I	368	ENSP00000340369:L368I	ENSP00000340369:L368I	L	-	1	0	RINL	44052083	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.849000	0.48286	2.613000	0.88420	0.462000	0.41574	CTC		0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		71	364	1	0	5.00936e-31	1	5.8875e-31	71	364					T	39360243	G	T	39360243	3	4	79	1	0	0	0	0	1	0	0	0	13425	971	34	3	268	3	RINL	19	39360243	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65836	39360243	19768740	19166	29483											
RINL	126432	broad.mit.edu	37	chr19	39360267	39360267	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cataagaaactctacgtccaGctgcgtgtccccaatgtccg	8	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360267G>T	ENST00000591812.1	-	10	1506	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Missense_Mutation_p.L360M|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.L360M			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	474	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCTACGTCCAGCTGCGTGTCC	0.607											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340740.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(1078-1080)Ctg>Atg		Ras and Rab interactor-like							67	74	72					19																	39360267		2203	4300	6503	SO:0001583	missense	126432						GTPase activator activity	g.chr19:39360267G>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.1420C>A	19.37:g.39360267G>T	ENSP00000467107:p.Leu474Met		OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	RINL_ENST00000591812.1_Missense_Mutation_p.L474M|RINL_ENST00000598904.1_Missense_Mutation_p.L360M	p.L360M	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			10	1465	-			360			VPS9.		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	c.1078C>A	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053794	0.55218	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.33438	1.41	5.27	4.22	0.49857	Vacuolar sorting protein 9 (2);	0.176689	0.39407	N	0.001373	T	0.43478	0.1249	L	0.42686	1.345	0.33299	D	0.564609	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.53500	-0.8430	10	0.34782	T	0.22	-15.0535	10.0355	0.42127	0.0946:0.0:0.9054:0.0	.	474;360	B4DPG5;Q6ZS11	.;RINL_HUMAN	M	360	ENSP00000340369:L360M	ENSP00000340369:L360M	L	-	1	2	RINL	44052107	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.971000	0.49248	1.335000	0.45486	0.462000	0.41574	CTG		0.607	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		80	393	1	0	5.41189e-41	1	6.56972e-41	80	393					T	39360267	G	T	39360267	3	4	79	1	0	0	0	0	1	0	0	0	13425	962	34	3	292	3	RINL	19	39360267	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24	39360267	19768716	19167	29484											
RINL	126432	broad.mit.edu	37	chr19	39361854	39361854	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgtcctgttggaccctgccGatctgcacaggatctggagc	13	12	2	0	rs367723236		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39361854G>A	ENST00000591812.1	-	7	551	c.465C>T	c.(463-465)atC>atT	p.I155I	RINL_ENST00000602238.1_5'Flank|RINL_ENST00000598904.1_Silent_p.I41I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Silent_p.I41I			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	155					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGACCCTGCCGATCTGCACAG	0.597																																						ENST00000340740.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(121-123)atC>atT		Ras and Rab interactor-like							53	52	52					19																	39361854		2203	4300	6503	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39361854G>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.465C>T	19.37:g.39361854G>A						RINL_ENST00000591812.1_Silent_p.I155I|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.I41I	p.I41I	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			7	510	-			41					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.123C>T	CCDS59386.1																																																																																				0.597	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		28	274	0	0	0	1	0	28	274					A	39361854	G	A	39361854	2	1	79	1	0	0	0	0	0	0	0	1	13425	1048	37	1		1	RINL	19	39361854	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1587	39361854	19767129	19168	29485											
FBXO17	115290	broad.mit.edu	37	chr19	39437163	39437163	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcagctcctgccacAccccttccatcaccaggtcc	6	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39437163A>G	ENST00000292852.4	-	4	847	c.506T>C	c.(505-507)gTg>gCg	p.V169A	SARS2_ENST00000448145.2_Missense_Mutation_p.V4A|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A|CTC-360G5.8_ENST00000599996.1_Silent_p.G73G	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	169	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTGCCACACCCCTTCCAT	0.617																																						ENST00000292852.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7						c.(505-507)gTg>gCg		F-box protein 17							83	66	72					19																	39437163		2203	4300	6503	SO:0001583	missense	115290							g.chr19:39437163A>G	AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"F-boxes /  "other""	18754	protein-coding gene	gene with protein product	"F-box only protein 26"	609094	"F-box only protein 17"	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.506T>C	19.37:g.39437163A>G	ENSP00000292852:p.Val169Ala					CTC-360G5.8_ENST00000599996.1_Silent_p.G73G|SARS2_ENST00000448145.2_Missense_Mutation_p.V4A|FBXO17_ENST00000595329.1_Missense_Mutation_p.V169A	p.V169A	NM_024907.5	NP_079183.4			Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		4	847	-	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)							Q96LQ4	Missense_Mutation	SNP	ENST00000292852.4	37	c.506T>C	CCDS12526.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199659	0.38905	.	.	ENSG00000104835	ENST00000448145;ENST00000392076;ENST00000292852	T;T	0.32272	1.46;1.46	4.25	4.25	0.50352	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.321927	0.21695	N	0.070509	T	0.22859	0.0552	L	0.29908	0.895	.	.	.	B;B	0.22541	0.071;0.037	B;B	0.22880	0.042;0.042	T	0.27365	-1.0076	9	0.66056	D	0.02	.	9.9197	0.41457	1.0:0.0:0.0:0.0	.	4;169	E7EX87;Q96EF6	.;FBX17_HUMAN	A	4;178;169	ENSP00000399330:V4A;ENSP00000292852:V169A	ENSP00000292852:V169A	V	-	2	0	FBXO17	44129003	0.758000	0.28405	0.633000	0.29310	0.777000	0.43975	2.350000	0.44063	1.914000	0.55421	0.374000	0.22700	GTG		0.617	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907		42	200	0	0	0	1	0	42	200					G	39437163	A	G	39437163	3	3	79	1	0	0	0	0	1	0	0	0	5755	159	6	4	342	4	FBXO17	19	39437163	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	75309	39437163	19691820	19169	29486											
FBXO27	126433	broad.mit.edu	37	chr19	39516062	39516062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgctggactaggacagacGgactcgcacgatcacactgg	13	11	1	1	rs369267515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39516062G>A	ENST00000292853.4	-	6	960	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C|FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	281						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)			TAGGACAGACGGACTCGCACG	0.587																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(841-843)Cgt>Tgt		F-box protein 27		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	119	103	109		841	-2.6	0	19		109	0,8600		0,0,4300	no	missense	FBXO27	NM_178820.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	281/284	39516062	1,13005	2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39516062G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.841C>T	19.37:g.39516062G>A	ENSP00000292853:p.Arg281Cys					FBXO27_ENST00000509137.2_Missense_Mutation_p.R281C|FBXO27_ENST00000600828.1_Missense_Mutation_p.R280C	p.R281C	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	960	-	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)		281					Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.841C>T	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482081	0.44147	2.27E-4	0.0	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.37235	1.21;1.21	3.41	-2.62	0.06152	.	1.761420	0.03259	N	0.183013	T	0.21881	0.0527	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20107	-1.0285	10	0.51188	T	0.08	-15.2278	3.283	0.06922	0.4933:0.0:0.3144:0.1923	.	281	Q8NI29	FBX27_HUMAN	C	281	ENSP00000292853:R281C;ENSP00000437662:R281C	ENSP00000292853:R281C	R	-	1	0	FBXO27	44207902	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.523000	0.06230	-0.420000	0.07427	-0.339000	0.08088	CGT		0.587	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			69	434	0	0	0	1	0	69	434					A	39516062	G	A	39516062	3	1	79	1	0	0	0	0	1	0	0	0	5762	1116	39	1	14	1	FBXO27	19	39516062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78899	39516062	19612921	19170	29487											
FBXO27	126433	broad.mit.edu	37	chr19	39517624	39517624	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagtctgtacatacagccGctgtcgtgtcgggctcccca	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39517624G>A	ENST00000292853.4	-	5	713	c.594C>T	c.(592-594)agC>agT	p.S198S	FBXO27_ENST00000600828.1_Silent_p.S197S|FBXO27_ENST00000509137.2_Silent_p.S198S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	198	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)			ACATACAGCCGCTGTCGTGTC	0.562																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(592-594)agC>agT		F-box protein 27							122	118	120					19																	39517624		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517624G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"F-boxes /  "other""	18753	protein-coding gene	gene with protein product		609099	"F-box only protein 27"			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.594C>T	19.37:g.39517624G>A						FBXO27_ENST00000509137.2_Silent_p.S198S|FBXO27_ENST00000600828.1_Silent_p.S197S	p.S198S	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	713	-	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)		198			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.594C>T	CCDS12527.1																																																																																				0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			110	572	0	0	0	1	0	110	572					A	39517624	G	A	39517624	2	1	79	1	0	0	0	0	0	0	0	1	5762	1078	38	1		1	FBXO27	19	39517624	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1562	39517624	19611359	19171	29488											
PAK4	10298	broad.mit.edu	37	chr19	39667298	39667298	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgaaggaagtcgctggtCggcacgccctactggatggc	14	14	0	0	rs201757969		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667298C>T	ENST00000593690.1	+	9	1855	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000599386.1_Silent_p.V323V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	476	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGTCGCTGGTCGGCACGCCCT	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		15633	0.0		0.001	False		,,,				2504	0.0					ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(967-969)gtC>gtT		p21 protein (Cdc42/Rac)-activated kinase 4							116	122	120					19																	39667298		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39667298C>T	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1428C>T	19.37:g.39667298C>T						PAK4_ENST00000358301.3_Silent_p.V476V|PAK4_ENST00000599470.1_Silent_p.V323V|PAK4_ENST00000321944.4_Silent_p.V386V|PAK4_ENST00000435673.2_Silent_p.V476V|PAK4_ENST00000593690.1_Silent_p.V476V|PAK4_ENST00000360442.3_Silent_p.V476V	p.V323V	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		7	1150	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		476			GEF-interaction domain (GID).|Protein kinase.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Silent	SNP	ENST00000593690.1	37	c.969C>T	CCDS12528.1																																																																																				0.657	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			195	894	0	0	0	1	0	195	894					T	39667298	C	T	39667298	2	4	79	1	0	0	0	0	0	0	0	1	11445	871	31	1		1	PAK4	19	39667298	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149674	39667298	19461685	19172	29489											
PAK4	10298	broad.mit.edu	37	chr19	39667313	39667313	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggtcggcacgccctactgGatggccccagagctcatctc	11	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667313G>A	ENST00000593690.1	+	9	1870	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000599386.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCCTACTGGATGGCCCCAG	0.647																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(982-984)tgG>tgA		p21 protein (Cdc42/Rac)-activated kinase 4							99	105	103					19																	39667313		2203	4300	6503	SO:0001587	stop_gained	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39667313G>A	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1443G>A	19.37:g.39667313G>A	ENSP00000469413:p.Trp481*					PAK4_ENST00000358301.3_Nonsense_Mutation_p.W481*|PAK4_ENST00000599470.1_Nonsense_Mutation_p.W328*|PAK4_ENST00000321944.4_Nonsense_Mutation_p.W391*|PAK4_ENST00000435673.2_Nonsense_Mutation_p.W481*|PAK4_ENST00000593690.1_Nonsense_Mutation_p.W481*|PAK4_ENST00000360442.3_Nonsense_Mutation_p.W481*	p.W328*	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		7	1165	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		481			Protein kinase.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Nonsense_Mutation	SNP	ENST00000593690.1	37	c.984G>A	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	G	39	7.304802	0.98200	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5385	0.76021	0.0:0.0:1.0:0.0	.	.	.	.	X	481;328;285;237;481;481	.	ENSP00000326864:W328X	W	+	3	0	PAK4	44359153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.591000	0.98241	2.521000	0.84997	0.650000	0.86243	TGG		0.647	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			199	796	0	0	0	1	0	199	796					A	39667313	G	A	39667313	4	1	79	1	0	0	0	0	0	1	0	0	11445	1183	41	2	1465	2	PAK4	19	39667313	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	39667313	19461670	19173	29490											
IL28B	282617	broad.mit.edu	37	chr19	39734508	39734508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagccaatggtggaggcGgccccgggtcctgggccctg	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39734508G>A	ENST00000413851.2	-	4	486	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	150					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGGTGGAGGCGGCCCCGGGTC	0.687																																						ENST00000413851.2																			0											c.(448-450)Cgc>Tgc		interferon, lambda 3							23	31	28					19																	39734508		2194	4276	6470	SO:0001583	missense	282617							g.chr19:39734508G>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.448C>T	19.37:g.39734508G>A	ENSP00000409000:p.Arg150Cys						p.R150C	NM_172139.2	NP_742151.2					4	486	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.448C>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264525	0.39995	.	.	ENSG00000197110	ENST00000413851	T	0.38240	1.15	3.95	1.67	0.24075	.	0.249527	0.31312	N	0.007864	T	0.36358	0.0964	M	0.85542	2.76	0.32477	N	0.542058	D	0.54047	0.964	B	0.40285	0.325	T	0.54964	-0.8214	10	0.87932	D	0	-16.3203	5.0916	0.14711	0.3115:0.0:0.6885:0.0	.	150	Q8IZI9	IL28B_HUMAN	C	150	ENSP00000409000:R150C	ENSP00000409000:R150C	R	-	1	0	IL28B	44426348	0.321000	0.24625	0.541000	0.28102	0.236000	0.25371	1.241000	0.32743	0.705000	0.31890	0.205000	0.17691	CGC		0.687	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		91	501	0	0	0	1	0	91	501					A	39734508	G	A	39734508	3	1	79	1	0	0	0	0	1	0	0	0	7713	1116	39	1	149	1	IL28B	19	39734508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67195	39734508	19394475	19174	29491											
IL28A	282616	broad.mit.edu	37	chr19	39759474	39759474	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctccacaggagctgcaggcCtttaagagggccaaagatgc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39759474C>A	ENST00000331982.5	+	2	223	c.168C>A	c.(166-168)gcC>gcA	p.A56A		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	56					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)											AGCTGCAGGCCTTTAAGAGGG	0.622																																						ENST00000331982.5																			0											c.(166-168)gcC>gcA		interferon, lambda 2							29	31	31					19																	39759474		2203	4295	6498	SO:0001819	synonymous_variant	282616							g.chr19:39759474C>A	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.168C>A	19.37:g.39759474C>A							p.A56A	NM_172138.1	NP_742150.1					2	223	+								Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	ENST00000331982.5	37	c.168C>A	CCDS42567.1																																																																																				0.622	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1	NM_172138		45	152	1	0	2.48909e-17	1	2.74552e-17	45	152					A	39759474	C	A	39759474	2	1	79	1	0	0	0	0	0	0	0	1	7712	668	24	3		3	IL28A	19	39759474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24966	39759474	19369509	19175	29492											
LRFN1	57622	broad.mit.edu	37	chr19	39798496	39798496	+	Missense_Mutation	SNP	G	G	A													aatagcgctgctgcggcctcGgccgggccgcggctccccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798496G>A	ENST00000248668.4	-	2	2092	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	698						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)			CTGCGGCCTCGGCCGGGCCGC	0.721																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2092-2094)cCg>cTg		leucine rich repeat and fibronectin type III domain containing 1							7	8	8					19																	39798496		1818	4022	5840	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798496G>A	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.2093C>T	19.37:g.39798496G>A	ENSP00000248668:p.Pro698Leu						p.P698L	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	2092	-	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)		698					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.2093C>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	2.755	-0.259229	0.05791	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.48	2.16	0.27623	.	1.002150	0.08049	N	0.996419	T	0.36413	0.0966	N	0.08118	0	0.32786	N	0.501836	P	0.40083	0.702	B	0.25291	0.059	T	0.33369	-0.9871	10	0.39692	T	0.17	.	10.8054	0.46514	0.0:0.1395:0.7155:0.145	.	698	Q9P244	LRFN1_HUMAN	L	698	ENSP00000248668:P698L	ENSP00000248668:P698L	P	-	2	0	LRFN1	44490336	0.751000	0.28327	0.918000	0.36340	0.040000	0.13550	4.322000	0.59215	0.350000	0.24002	-2.048000	0.00412	CCG		0.721	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		21	65	0	0	0	1	0	21	65					A	39798496	G	A	39798496	3	1	79	1	0	0	0	0	1	0	0	0	8975	1116	39	1	226	1	LRFN1	19	39798496	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39022	39798496	19330487	19176	29493	190	2									
LRFN1	57622	broad.mit.edu	37	chr19	39798503	39798503	+	Missense_Mutation	SNP	C	C	T													ctgctgcggcctcggccgggCcgcggctcccccaggaacta							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798503C>T	ENST00000248668.4	-	2	2085	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	696						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)			CTCGGCCGGGCCGCGGCTCCC	0.716																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2086-2088)Gcc>Acc		leucine rich repeat and fibronectin type III domain containing 1							6	8	7					19																	39798503		1814	4005	5819	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798503C>T	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.2086G>A	19.37:g.39798503C>T	ENSP00000248668:p.Ala696Thr						p.A696T	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	2085	-	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)		696					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.2086G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122258	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.63096	-0.02	4.32	4.32	0.51571	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.39200	D	0.963129	P	0.38395	0.629	B	0.31101	0.124	T	0.52616	-0.8552	9	0.54805	T	0.06	.	14.3036	0.66371	0.0:1.0:0.0:0.0	.	696	Q9P244	LRFN1_HUMAN	T	696	ENSP00000248668:A696T	ENSP00000248668:A696T	A	-	1	0	LRFN1	44490343	0.003000	0.15002	0.950000	0.38849	0.046000	0.14306	1.304000	0.33482	1.971000	0.57363	0.462000	0.41574	GCC		0.716	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		17	59	0	0	0	1	0	17	59					T	39798503	C	T	39798503	3	4	79	1	0	0	0	0	1	0	0	0	8975	739	26	2	233	2	LRFN1	19	39798503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	39798503	19330480	19177	29494	190	2									
LRFN1	57622	broad.mit.edu	37	chr19	39805276	39805276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcttgggcccggtgccctgcGacctcaggaagagcccgtcg	15	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805276G>A	ENST00000248668.4	-	1	700	c.701C>T	c.(700-702)tCg>tTg	p.S234L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	234						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)			GGTGCCCTGCGACCTCAGGAA	0.682																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(700-702)tCg>tTg		leucine rich repeat and fibronectin type III domain containing 1							23	28	26					19																	39805276		2114	4236	6350	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805276G>A	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.701C>T	19.37:g.39805276G>A	ENSP00000248668:p.Ser234Leu						p.S234L	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	700	-	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)		234					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.701C>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118643	0.37436	.	.	ENSG00000128011	ENST00000248668	T	0.62498	0.02	4.3	4.3	0.51218	.	0.200845	0.24848	N	0.035105	T	0.54515	0.1863	L	0.54323	1.7	0.32386	N	0.553962	B	0.17038	0.02	B	0.13407	0.009	T	0.56920	-0.7899	10	0.12766	T	0.61	.	14.2826	0.66224	0.0:0.0:1.0:0.0	.	234	Q9P244	LRFN1_HUMAN	L	234	ENSP00000248668:S234L	ENSP00000248668:S234L	S	-	2	0	LRFN1	44497116	1.000000	0.71417	0.987000	0.45799	0.754000	0.42855	5.523000	0.67099	2.234000	0.73211	0.491000	0.48974	TCG		0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		32	100	0	0	0	1	0	32	100					A	39805276	G	A	39805276	3	1	79	1	0	0	0	0	1	0	0	0	8975	1059	37	1	1622	1	LRFN1	19	39805276	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6773	39805276	19323707	19178	29495											
LRFN1	57622	broad.mit.edu	37	chr19	39805339	39805339	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcatgtccagacggAccagcttgtgaagctgcacg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805339A>G	ENST00000248668.4	-	1	637	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	213						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)			GTCCAGACGGACCAGCTTGTG	0.652																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(637-639)gTc>gCc		leucine rich repeat and fibronectin type III domain containing 1							42	51	48					19																	39805339		2158	4276	6434	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805339A>G	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.638T>C	19.37:g.39805339A>G	ENSP00000248668:p.Val213Ala					CTC-246B18.8_ENST00000601911.1_RNA	p.V213A	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	637	-	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)		213					Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.638T>C	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	A	1.314	-0.601228	0.03744	.	.	ENSG00000128011	ENST00000248668	T	0.57273	0.41	4.62	3.61	0.41365	.	0.000000	0.38720	N	0.001581	T	0.31358	0.0794	N	0.25485	0.75	0.47819	D	0.999529	B	0.20052	0.041	B	0.18871	0.023	T	0.13255	-1.0516	10	0.02654	T	1	.	8.0904	0.30797	0.9026:0.0:0.0974:0.0	.	213	Q9P244	LRFN1_HUMAN	A	213	ENSP00000248668:V213A	ENSP00000248668:V213A	V	-	2	0	LRFN1	44497179	0.998000	0.40836	0.957000	0.39632	0.993000	0.82548	3.704000	0.54815	0.810000	0.34279	0.454000	0.30748	GTC		0.652	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		34	116	0	0	0	1	0	34	116					G	39805339	A	G	39805339	3	3	79	1	0	0	0	0	1	0	0	0	8975	275	10	4	1685	4	LRFN1	19	39805339	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	63	39805339	19323644	19179	29496											
GMFG	9535	broad.mit.edu	37	chr19	39826613	39826613	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaacccctggcccctgaCcatgattgttctgtccacag	8	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39826613C>T	ENST00000597595.1	-	1	212		c.e1+1		GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000598034.1_Splice_Site|GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000602185.1_Splice_Site	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma						negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCCCTGACCATGATTGTT	0.622																																						ENST00000598034.1																			0				breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10						c.e1+1		glia maturation factor, gamma							55	47	50					19																	39826613		2203	4300	6503	SO:0001630	splice_region_variant	9535				protein phosphorylation	intracellular	actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity	g.chr19:39826613C>T	AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.3+1G>A	19.37:g.39826613C>T						GMFG_ENST00000594700.1_Splice_Site|GMFG_ENST00000595636.1_Splice_Site|GMFG_ENST00000253054.8_Splice_Site|GMFG_ENST00000601387.1_Splice_Site|GMFG_ENST00000597595.1_Splice_Site|GMFG_ENST00000600322.1_Intron|GMFG_ENST00000602185.1_Splice_Site				O60234	GMFG_HUMAN	Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	33	-	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)							Q6IB37	Splice_Site	SNP	ENST00000597595.1	37		CCDS12532.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736996	0.30774	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7108	0.51625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GMFG	44518453	0.990000	0.36364	1.000000	0.80357	0.420000	0.31355	2.121000	0.41977	2.113000	0.64589	0.511000	0.50034	.		0.622	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463839.1		Intron	6	133	0	0	0	1	0	6	133					T	39826613	C	T	39826613	5	4	79	1	0	0	0	0	0	0	1	0	6519	521	18	2	452	2	GMFG	19	39826613	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21274	39826613	19302370	19180	29497											
PAF1	55588	broad.mit.edu	37	chr19	39879412	39879412	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccacctacctaatcatggCctgagacatcatctccaacg	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39879412C>T	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.A234T|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.A244T|PAF1_ENST00000221266.7_Missense_Mutation_p.A211T			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTAATCATGGCCTGAGACATC	0.552																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(730-732)Gcc>Acc		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							102	77	86					19																	39879412		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879412C>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879412C>T	Exception_encountered					PAF1_ENST00000221266.7_Missense_Mutation_p.A211T|PAF1_ENST00000595564.1_Missense_Mutation_p.A234T	p.A244T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		9	1060	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		244					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.730G>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.258444	0.80246	.	.	ENSG00000006712	ENST00000221265;ENST00000221266;ENST00000416728	.	.	.	5.11	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.82323	2.585	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.986	T	0.82022	-0.0663	9	0.59425	D	0.04	-20.7666	13.516	0.61541	0.0:0.842:0.158:0.0	.	211;244	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	T	244;211;191	.	ENSP00000221265:A244T	A	-	1	0	PAF1	44571252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.182000	0.77689	1.234000	0.43709	0.563000	0.77884	GCC		0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		55	271	0	0	0	1	0	55	271					T	39879412	C	T	39879412	1	4	79	0	1	0	0	0	0	0	0	0	11425	739	26	2		2	PAF1	19	39879412	5'Flank	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52799	39879412	19249571	19181	29498											
PAF1	55588	broad.mit.edu	37	chr19	39880299	39880299	+	5'Flank	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccattggggtcgatgcggtaGgtgtcaggattgatgagatc	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39880299G>T	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Silent_p.T81T|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Silent_p.T91T|PAF1_ENST00000221266.7_Silent_p.T81T			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGATGCGGTAGGTGTCAGGAT	0.587																																						ENST00000221265.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17						c.(271-273)acC>acA		Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)							143	118	127					19																	39880299		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880299G>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880299G>T	Exception_encountered					PAF1_ENST00000221266.7_Silent_p.T81T|PAF1_ENST00000595564.1_Silent_p.T81T	p.T91T	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		4	603	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		91					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.273C>A																																																																																					0.587	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		99	375	1	0	3.04226e-33	1	3.60366e-33	99	375					T	39880299	G	T	39880299	1	4	79	0	1	0	0	0	0	0	0	0	11425	987	35	3		3	PAF1	19	39880299	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	887	39880299	19248684	19182	29499											
MED29	55588	broad.mit.edu	37	chr19	39884197	39884197	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttgtctgtagaaagAgcagtgatggacccatacag	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39884197A>G	ENST00000599213.2	+	3	307	c.280A>G	c.(280-282)Agc>Ggc	p.S94G	PAF1_ENST00000595564.1_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.S94G|MED29_ENST00000315588.5_Missense_Mutation_p.S115G|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank			Q9NX70	MED29_HUMAN	mediator complex subunit 29	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGTAGAAAGAGCAGTGATGG	0.473																																						ENST00000315588.5																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(343-345)Agc>Ggc		mediator complex subunit 29							180	179	179					19																	39884197		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39884197A>G	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"intersex-like (Drosophila)"	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.280A>G	19.37:g.39884197A>G	ENSP00000471802:p.Ser94Gly					MED29_ENST00000599213.2_Missense_Mutation_p.S94G|MED29_ENST00000594368.1_Missense_Mutation_p.S94G	p.S115G	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		3	392	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		94					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.343A>G		.	.	.	.	.	.	.	.	.	.	a	9.103	1.004571	0.19199	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.39	4.39	0.52855	.	0.099330	0.64402	D	0.000002	T	0.31979	0.0814	L	0.31065	0.9	0.28778	N	0.899981	P;B	0.36909	0.573;0.006	B;B	0.39706	0.307;0.005	T	0.15983	-1.0418	9	0.21540	T	0.41	-4.0518	11.6009	0.51001	1.0:0.0:0.0:0.0	.	94;115	Q9NX70;B4DUA7	MED29_HUMAN;.	G	115;33	.	ENSP00000314343:S115G	S	+	1	0	MED29	44576037	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.703000	0.68340	1.833000	0.53350	0.456000	0.33151	AGC		0.473	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		121	650	0	0	0	1	0	121	650					G	39884197	A	G	39884197	3	3	79	1	0	0	0	0	1	0	0	0	9488	304	11	4	353	4	MED29	19	39884197	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3898	39884197	19244786	19183	29500											
PLEKHG2	64857	broad.mit.edu	37	chr19	39905984	39905984	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagtcatcccaacaggactaCctgggccctctgctggacgg	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39905984C>A	ENST00000409794.3	+	4	1234	c.384C>A	c.(382-384)taC>taA	p.Y128*	PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*|PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000425673.1_Nonsense_Mutation_p.Y128*	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	128	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACAGGACTACCTGGGCCCTC	0.642																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(382-384)taC>taA		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							40	37	38					19																	39905984		2203	4300	6503	SO:0001587	stop_gained	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39905984C>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.384C>A	19.37:g.39905984C>A	ENSP00000386733:p.Tyr128*					PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.Y128*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.Y69*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.Y128*	p.Y128*			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		4	709	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		128			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Nonsense_Mutation	SNP	ENST00000409794.3	37	c.384C>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.26|19.26	3.794245|3.794245	0.70452|0.70452	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354	.|.	.|.	.|.	4.49|4.49	3.45|3.45	0.39498|0.39498	.|.	.|0.000000	.|0.47455	.|D	.|0.000222	T|.	0.52901|.	0.1763|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.63120|.	-0.6708|.	3|.	.|.	.|.	.|.	.|.	10.3059|10.3059	0.43680|0.43680	0.0:0.9018:0.0:0.0982|0.0:0.9018:0.0:0.0982	.|.	.|.	.|.	.|.	N|X	25|128;128;128;69;128;129	.|.	.|.	T|Y	+|+	2|3	0|2	PLEKHG2|PLEKHG2	44597824|44597824	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	0.373000|0.373000	0.20484|0.20484	1.108000|1.108000	0.41662|0.41662	0.491000|0.491000	0.48974|0.48974	ACC|TAC		0.642	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		10	156	1	0	3.86212e-05	1	3.93988e-05	10	156					A	39905984	C	A	39905984	4	1	79	1	0	0	0	0	0	1	0	0	12111	518	18	3	394	3	PLEKHG2	19	39905984	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21787	39905984	19222999	19184	29501											
PLEKHG2	64857	broad.mit.edu	37	chr19	39907007	39907007	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgagctcctggaggacttgGagaacagcagcagcgccggg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907007G>A	ENST00000409794.3	+	5	1349	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.E167K	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	167	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGACTTGGAGAACAGCAG	0.667																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(499-501)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							78	86	83					19																	39907007		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907007G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.499G>A	19.37:g.39907007G>A	ENSP00000386733:p.Glu167Lys					PLEKHG2_ENST00000409797.2_Missense_Mutation_p.E167K|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E167K|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E108K|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.E167K	p.E167K			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		5	824	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		167			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.499G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	5.006214|5.006214	0.93287|0.93287	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797;ENST00000451354|ENST00000205135	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2|.	4.68|4.68	4.68|4.68	0.58851|0.58851	Dbl homology (DH) domain (5);|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|.	0.73999|.	0.3659|.	M|M	0.70842|0.70842	2.15|2.15	0.50039|0.50039	D|D	0.999843|0.999843	D;D;P|.	0.71674|.	0.998;0.98;0.934|.	D;P;P|.	0.74023|.	0.982;0.896;0.79|.	T|.	0.74372|.	-0.3687|.	10|.	0.87932|.	D|.	0|.	.|.	16.5224|16.5224	0.84320|0.84320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	167;108;167|.	Q9H7P9;E7ESZ3;Q9H7P9-2|.	PKHG2_HUMAN;.;.|.	K|X	167;167;167;108;167;168|63	ENSP00000386733:E167K;ENSP00000392906:E167K;ENSP00000367812:E167K;ENSP00000408857:E108K;ENSP00000386492:E167K;ENSP00000412818:E168K|.	ENSP00000367812:E167K|.	E|W	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44598847|44598847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.740000|0.740000	0.42216|0.42216	7.981000|7.981000	0.88123|0.88123	2.452000|2.452000	0.82932|0.82932	0.491000|0.491000	0.48974|0.48974	GAG|TGG		0.667	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		53	800	0	0	0	1	0	53	800					A	39907007	G	A	39907007	3	1	79	1	0	0	0	0	1	0	0	0	12111	1175	41	2	513	2	PLEKHG2	19	39907007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1023	39907007	19221976	19185	29502											
PLEKHG2	64857	broad.mit.edu	37	chr19	39907596	39907596	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccctgcagagcttcctgCtgaaacctgtccagcgcatt	9	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907596C>T	ENST00000409794.3	+	7	1550	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	PLEKHG2_ENST00000458508.2_Silent_p.L175L|PLEKHG2_ENST00000409797.2_Silent_p.L234L|PLEKHG2_ENST00000378550.1_Silent_p.L234L|PLEKHG2_ENST00000425673.1_Silent_p.L234L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	234	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCTTCCTGCTGAAACCTGT	0.672																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(700-702)Ctg>Ttg		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							32	34	33					19																	39907596		2200	4297	6497	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907596C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.700C>T	19.37:g.39907596C>T						PLEKHG2_ENST00000409797.2_Silent_p.L234L|PLEKHG2_ENST00000409794.3_Silent_p.L234L|PLEKHG2_ENST00000458508.2_Silent_p.L175L|PLEKHG2_ENST00000378550.1_Silent_p.L234L	p.L234L			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	1025	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		234			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.700C>T	CCDS33022.2																																																																																				0.672	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		18	428	0	0	0	1	0	18	428					T	39907596	C	T	39907596	2	4	79	1	0	0	0	0	0	0	0	1	12111	796	28	2		2	PLEKHG2	19	39907596	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589	39907596	19221387	19186	29503											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908676	39908676	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gggggtgagcggctgctcttCctgttctctcggatgctgct	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39908676C>A	ENST00000409794.3	+	9	1864	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.F338L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	338	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTGCTCTTCCTGTTCTCTC	0.632																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1012-1014)ttC>ttA		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							19	19	19					19																	39908676		2203	4297	6500	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908676C>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1014C>A	19.37:g.39908676C>A	ENSP00000386733:p.Phe338Leu					PLEKHG2_ENST00000409797.2_Missense_Mutation_p.F338L|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.F338L|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.F279L|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.F338L	p.F338L			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1339	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		338			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1014C>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	21.1|21.1	4.098734|4.098734	0.76870|0.76870	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797|ENST00000205135	D;D;D;D;D|.	0.90844|.	-2.74;-2.74;-2.74;-2.74;-2.74|.	4.65|4.65	0.0907|0.0907	0.14464|0.14464	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48857|0.48857	0.1523|0.1523	L|L	0.37697|0.37697	1.125|1.125	0.41715|0.41715	D|D	0.989477|0.989477	P;D;P;P|.	0.69078|.	0.499;0.997;0.55;0.678|.	P;D;P;P|.	0.70716|.	0.708;0.97;0.613;0.519|.	T|T	0.30621|0.30621	-0.9972|-0.9972	10|5	0.87932|.	D|.	0|.	.|.	8.4114|8.4114	0.32646|0.32646	0.0:0.6421:0.0:0.3579|0.0:0.6421:0.0:0.3579	.|.	338;338;279;338|.	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2|.	.;PKHG2_HUMAN;.;.|.	L|Y	338;338;338;279;338|235	ENSP00000386733:F338L;ENSP00000392906:F338L;ENSP00000367812:F338L;ENSP00000408857:F279L;ENSP00000386492:F338L|.	ENSP00000367812:F338L|.	F|S	+|+	3|2	2|0	PLEKHG2|PLEKHG2	44600516|44600516	0.998000|0.998000	0.40836|0.40836	0.875000|0.875000	0.34327|0.34327	0.859000|0.859000	0.49053|0.49053	1.089000|1.089000	0.30890|0.30890	-0.008000|-0.008000	0.14320|0.14320	-0.265000|-0.265000	0.10407|0.10407	TTC|TCC		0.632	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		12	93	1	0	7.93312e-07	1	8.20014e-07	12	93					A	39908676	C	A	39908676	3	1	79	1	0	0	0	0	1	0	0	0	12111	854	30	3	1044	3	PLEKHG2	19	39908676	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1080	39908676	19220307	19187	29504											
SUPT5H	6829	broad.mit.edu	37	chr19	39955444	39955444	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaccctgcagcccctgCagatcaagtcagtagtggca	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39955444C>T	ENST00000599117.1	+	12	998	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	211	Interaction with SUPT4H1.				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)			GCAGCCCCTGCAGATCAAGTC	0.547																																						ENST00000599117.1																			0				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						c.(631-633)Cag>Tag		suppressor of Ty 5 homolog (S. cerevisiae)							81	78	79					19																	39955444		2203	4300	6503	SO:0001587	stop_gained	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39955444C>T	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.631C>T	19.37:g.39955444C>T	ENSP00000470252:p.Gln211*					SUPT5H_ENST00000402194.2_Nonsense_Mutation_p.Q207*|SUPT5H_ENST00000598725.1_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000432763.2_Nonsense_Mutation_p.Q211*|SUPT5H_ENST00000359191.6_Nonsense_Mutation_p.Q207*	p.Q211*			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		12	998	+	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)		211			Interaction with SUPT4H1.		O43279|Q59G52|Q99639	Nonsense_Mutation	SNP	ENST00000599117.1	37	c.631C>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	39	7.821838	0.98507	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.5112	18.4325	0.90632	0.0:1.0:0.0:0.0	.	.	.	.	X	211;207;189;211	.	.	Q	+	1	0	SUPT5H	44647284	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.514000	0.81750	2.645000	0.89757	0.655000	0.94253	CAG		0.547	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		69	328	0	0	0	1	0	69	328					T	39955444	C	T	39955444	4	4	79	1	0	0	0	0	0	1	0	0	15451	711	25	2	669	2	SUPT5H	19	39955444	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46768	39955444	19173539	19188	29505											
SUPT5H	6829	broad.mit.edu	37	chr19	39964966	39964966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagctaccaccaggtggCgccaagcccagcaggctacc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39964966C>T	ENST00000599117.1	+	28	3111	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	915	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCAGGTGGCGCCAAGCCCA	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599117.1																			0				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						c.(2743-2745)gCg>gTg		suppressor of Ty 5 homolog (S. cerevisiae)							82	76	78					19																	39964966		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964966C>T	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.2744C>T	19.37:g.39964966C>T	ENSP00000470252:p.Ala915Val		OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SUPT5H_ENST00000402194.2_Missense_Mutation_p.A911V|SUPT5H_ENST00000598725.1_Missense_Mutation_p.A915V|SUPT5H_ENST00000432763.2_Missense_Mutation_p.A915V|SUPT5H_ENST00000359191.6_Missense_Mutation_p.A911V	p.A915V			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		28	3111	+	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)		915			10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2744C>T	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898806	0.72639	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.056626	0.64402	D	0.000002	T	0.67192	0.2867	M	0.62723	1.935	0.80722	D	1	D;D;D	0.61697	0.977;0.986;0.99	B;P;P	0.54431	0.269;0.752;0.57	T	0.67764	-0.5586	8	.	.	.	-28.4569	16.8495	0.85990	0.0:1.0:0.0:0.0	.	707;911;915	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	V	915;911;893;915	.	.	A	+	2	0	SUPT5H	44656806	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	5.707000	0.68370	2.515000	0.84797	0.462000	0.41574	GCG		0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		63	259	0	0	0	1	0	63	259					T	39964966	C	T	39964966	3	4	79	1	0	0	0	0	1	0	0	0	15451	768	27	1	2846	1	SUPT5H	19	39964966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9522	39964966	19164017	19189	29506											
TIMM50	92609	broad.mit.edu	37	chr19	39971218	39971218	+	5'Flank	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatctctgggcaataagtgtGatcccttccttcgctgcgtc	9	12	1	1	rs367865278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39971218G>T	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000314349.4_Missense_Mutation_p.D12Y|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAATAAGTGTGATCCCTTCCT	0.557																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(34-36)Gat>Tat		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							84	77	79					19																	39971218		2203	4300	6503	SO:0001631	upstream_gene_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971218G>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971218G>T	Exception_encountered						p.D12Y	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	167	+	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)		0					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.34G>T		.	.	.	.	.	.	.	.	.	.	G	14.02	2.411895	0.42817	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.1	-2.17	0.07059	.	.	.	.	.	T	0.16171	0.0389	N	0.08118	0	0.09310	N	0.999996	P	0.39782	0.688	P	0.44990	0.466	T	0.24440	-1.0160	7	.	.	.	2.2689	5.3158	0.15854	0.2557:0.2188:0.5255:0.0	.	12	Q3ZCQ8-2	.	Y	12	.	.	D	+	1	0	TIMM50	44663058	0.009000	0.17119	0.000000	0.03702	0.011000	0.07611	0.856000	0.27818	-0.267000	0.09325	0.462000	0.41574	GAT		0.557	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		73	380	1	0	2.41437e-24	1	2.75981e-24	73	380					T	39971218	G	T	39971218	1	4	79	0	1	0	0	0	0	0	0	0	15965	1290	45	3		3	TIMM50	19	39971218	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6252	39971218	19157765	19190	29507											
TIMM50	92609	broad.mit.edu	37	chr19	39972597	39972597	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctcagagggtcccagCtatgccaaaaaagttgcgct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39972597C>A	ENST00000607714.1	+	2	205	c.183C>A	c.(181-183)agC>agA	p.S61R	TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000314349.4_Missense_Mutation_p.S164R|TIMM50_ENST00000599794.1_Intron			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	61					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCCAGCTATGCCAAAA	0.622																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(490-492)agC>agA		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							109	118	115					19																	39972597		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39972597C>A	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.183C>A	19.37:g.39972597C>A	ENSP00000475531:p.Ser61Arg					TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Missense_Mutation_p.S61R	p.S164R	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	625	+	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)		61			FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.492C>A		.	.	.	.	.	.	.	.	.	.	C	19.77	3.888964	0.72524	.	.	ENSG00000105197	ENST00000314349	.	.	.	4.65	2.53	0.30540	.	0.110348	0.64402	D	0.000009	T	0.55449	0.1921	L	0.38175	1.15	0.80722	D	1	D	0.65815	0.995	D	0.66497	0.944	T	0.49418	-0.8942	8	.	.	.	-24.6103	8.1279	0.31010	0.0:0.735:0.0:0.265	.	164	Q3ZCQ8-2	.	R	164	.	.	S	+	3	2	TIMM50	44664437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.156000	0.31712	0.578000	0.29487	0.561000	0.74099	AGC		0.622	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		173	682	1	0	1.08347e-72	1	1.37854e-72	173	682					A	39972597	C	A	39972597	3	1	79	1	0	0	0	0	1	0	0	0	15965	796	28	3	498	3	TIMM50	19	39972597	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1379	39972597	19156386	19191	29508											
DYRK1B	9149	broad.mit.edu	37	chr19	40316646	40316646	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccggtcccaggcagtgaCgaggcagaggcaggggcttg	18	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316646C>T	ENST00000593685.1	-	11	2067	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	DYRK1B_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000323039.5_Silent_p.S533S|DYRK1B_ENST00000348817.3_Silent_p.S505S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	533					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)			CAGGCAGTGACGAGGCAGAGG	0.652																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1597-1599)tcG>tcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							18	23	21					19																	40316646		2154	4237	6391	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316646C>T	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.1599G>A	19.37:g.40316646C>T						DYRK1B_ENST00000430012.2_Silent_p.S493S|DYRK1B_ENST00000323039.5_Silent_p.S533S|DYRK1B_ENST00000597639.1_Silent_p.S505S|DYRK1B_ENST00000348817.3_Silent_p.S505S	p.S533S			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2067	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		533					O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1599G>A	CCDS12543.1																																																																																				0.652	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		16	283	0	0	0	1	0	16	283					T	40316646	C	T	40316646	2	4	79	1	0	0	0	0	0	0	0	1	4871	523	19	1		1	DYRK1B	19	40316646	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	344049	40316646	18812337	19192	29509											
DYRK1B	9149	broad.mit.edu	37	chr19	40316827	40316827	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccccattacctgggggCtgttcatctcacagtctgtg	10	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316827C>A	ENST00000593685.1	-	10	1979	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	504	Interaction with RANBP9.				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)			TACCTGGGGGCTGTTCATCTC	0.597																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1510-1512)aGc>aTc		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							46	50	49					19																	40316827		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316827C>A	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.1511G>T	19.37:g.40316827C>A	ENSP00000469863:p.Ser504Ile					DYRK1B_ENST00000430012.2_Missense_Mutation_p.S464I|DYRK1B_ENST00000323039.5_Missense_Mutation_p.S504I|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S476I|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S476I	p.S504I			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		10	1979	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		504			Interaction with RANBP9.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.1511G>T	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141557	0.57044	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.59502	0.26;0.3;0.26	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.29908	0.895	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.69250	-0.5194	10	0.72032	D	0.01	.	14.0031	0.64446	0.0:1.0:0.0:0.0	.	464;504;476	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	I	504;476;464	ENSP00000312789:S504I;ENSP00000221803:S476I;ENSP00000403182:S464I	ENSP00000312789:S504I	S	-	2	0	DYRK1B	45008667	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	6.875000	0.75551	1.847000	0.53656	0.462000	0.41574	AGC		0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		68	297	1	0	1.49552e-23	1	1.70131e-23	68	297					A	40316827	C	A	40316827	3	1	79	1	0	0	0	0	1	0	0	0	4871	797	28	3	386	3	DYRK1B	19	40316827	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	181	40316827	18812156	19193	29510											
DYRK1B	9149	broad.mit.edu	37	chr19	40318000	40318000	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtacttgcgagccttgggCgcctggtccagcatggcggc	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40318000C>T	ENST00000593685.1	-	8	1488	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DYRK1B_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000323039.5_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	340	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)			GAGCCTTGGGCGCCTGGTCCA	0.642																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1018-1020)gcG>gcA		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							43	44	43					19																	40318000		2203	4300	6503	SO:0001819	synonymous_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318000C>T	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.1020G>A	19.37:g.40318000C>T						DYRK1B_ENST00000430012.2_Silent_p.A340A|DYRK1B_ENST00000323039.5_Silent_p.A340A|DYRK1B_ENST00000597639.1_Silent_p.A340A|DYRK1B_ENST00000348817.3_Silent_p.A340A	p.A340A			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		8	1488	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		340			Protein kinase.		O75258|O75788|O75789	Silent	SNP	ENST00000593685.1	37	c.1020G>A	CCDS12543.1																																																																																				0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		38	297	0	0	0	1	0	38	297					T	40318000	C	T	40318000	2	4	79	1	0	0	0	0	0	0	0	1	4871	755	27	1		1	DYRK1B	19	40318000	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1173	40318000	18810983	19194	29511											
DYRK1B	9149	broad.mit.edu	37	chr19	40319092	40319092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtgcagagctgctgcgCcagcttccgggtcaggttca	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40319092C>T	ENST00000593685.1	-	6	1120	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	218	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)			AGCTGCTGCGCCAGCTTCCGG	0.597																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(652-654)Gcg>Acg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							70	65	66					19																	40319092		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40319092C>T	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.652G>A	19.37:g.40319092C>T	ENSP00000469863:p.Ala218Thr					DYRK1B_ENST00000430012.2_Missense_Mutation_p.A218T|DYRK1B_ENST00000323039.5_Missense_Mutation_p.A218T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A218T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A218T	p.A218T			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		6	1120	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		218			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.652G>A	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	C	30	5.058047	0.93846	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.67698	-0.28;-0.28;-0.28	5.95	5.95	0.96441	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	0.73953	0.3653	L	0.35288	1.05	0.80722	D	1	D;D;D	0.71674	0.969;0.98;0.998	P;D;D	0.74023	0.835;0.917;0.982	T	0.69807	-0.5045	10	0.31617	T	0.26	.	17.8657	0.88794	0.0:1.0:0.0:0.0	.	218;218;218	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	T	218	ENSP00000312789:A218T;ENSP00000221803:A218T;ENSP00000403182:A218T	ENSP00000312789:A218T	A	-	1	0	DYRK1B	45010932	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.796000	0.85898	2.826000	0.97356	0.491000	0.48974	GCG		0.597	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		23	102	0	0	0	1	0	23	102					T	40319092	C	T	40319092	3	4	79	1	0	0	0	0	1	0	0	0	4871	739	26	2	1261	2	DYRK1B	19	40319092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1092	40319092	18809891	19195	29512											
FBL	2091	broad.mit.edu	37	chr19	40327287	40327287	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggctgggccacatcaGcaaagatcacatccaccatt	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40327287G>T	ENST00000221801.3	-	7	817	c.704C>A	c.(703-705)gCt>gAt	p.A235D	DYRK1B_ENST00000430012.2_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000348817.3_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	235					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)		GGCCACATCAGCAAAGATCAC	0.537																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(703-705)gCt>gAt		fibrillarin							106	88	94					19																	40327287		2203	4300	6503	SO:0001583	missense	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40327287G>T	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.704C>A	19.37:g.40327287G>T	ENSP00000221801:p.Ala235Asp					FBL_ENST00000593503.1_5'UTR	p.A235D	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	7	817	-	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)	235					B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	ENST00000221801.3	37	c.704C>A	CCDS12545.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605171	0.87157	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	H	0.95294	3.65	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.69479	0.919;0.964	D	0.90595	0.4540	9	0.87932	D	0	-10.8703	15.0249	0.71663	0.0:0.0:1.0:0.0	.	174;235	Q96BS4;P22087	.;FBRL_HUMAN	D	235	.	ENSP00000221801:A235D	A	-	2	0	FBL	45019127	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.416000	0.97383	2.123000	0.65237	0.655000	0.94253	GCT		0.537	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		49	209	1	0	1.93748e-29	1	2.26412e-29	49	209					T	40327287	G	T	40327287	3	4	79	1	0	0	0	0	1	0	0	0	5721	971	34	3	273	3	FBL	19	40327287	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8195	40327287	18801696	19196	29513											
FBL	2091	broad.mit.edu	37	chr19	40331285	40331285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcctccaccgccgccGccgcctccacctcctcctcg	5	27	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40331285G>A	ENST00000221801.3	-	2	266	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	51	DMA/Gly-rich.				histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		caccgccgccgccgcctccac	0.662																																						ENST00000221801.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(151-153)ggC>ggT		fibrillarin							18	21	20					19																	40331285		2201	4299	6500	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40331285G>A	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.153C>T	19.37:g.40331285G>A							p.G51G	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	2	266	-	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)	51			DMA/Gly-rich.		B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.153C>T	CCDS12545.1																																																																																				0.662	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		31	142	0	0	0	1	0	31	142					A	40331285	G	A	40331285	2	1	79	1	0	0	0	0	0	0	0	1	5721	1074	38	1		1	FBL	19	40331285	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3998	40331285	18797698	19197	29514											
FCGBP	8857	broad.mit.edu	37	chr19	40354319	40354319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcttctcctgggagtcatGccaatcattggtctggtccc	11	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40354319G>A	ENST00000221347.6	-	35	16157	c.16150C>T	c.(16150-16152)Cat>Tat	p.H5384Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5384	VWFD 13. {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)			TGGGAGTCATGCCAATCATTG	0.547																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(16150-16152)Cat>Tat		Fc fragment of IgG binding protein							93	79	84					19																	40354319		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40354319G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16150C>T	19.37:g.40354319G>A	ENSP00000221347:p.His5384Tyr						p.H5384Y	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16157	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5384			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.16150C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.472442	0.00167	.	.	ENSG00000090920	ENST00000221347	T	0.58797	0.31	4.73	-0.618	0.11576	von Willebrand factor, type D domain (3);	2.516040	0.02440	N	0.084491	T	0.33673	0.0871	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.24701	0.055	T	0.14476	-1.0471	10	0.16896	T	0.51	.	4.2223	0.10563	0.0836:0.1329:0.5119:0.2716	.	5384	Q9Y6R7	FCGBP_HUMAN	Y	5384	ENSP00000221347:H5384Y	ENSP00000221347:H5384Y	H	-	1	0	FCGBP	45046159	0.002000	0.14202	0.001000	0.08648	0.030000	0.12068	1.152000	0.31663	0.123000	0.18342	-0.444000	0.05651	CAT		0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		52	207	0	0	0	1	0	52	207					A	40354319	G	A	40354319	3	1	79	1	0	0	0	0	1	0	0	0	5803	1319	46	2	75	2	FCGBP	19	40354319	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23034	40354319	18774664	19198	29515											
FCGBP	8857	broad.mit.edu	37	chr19	40357401	40357401	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacccttgtttggagtcaaCgtcaccatcccatcctggaa	7	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357401C>T	ENST00000221347.6	-	34	15919	c.15912G>A	c.(15910-15912)acG>acA	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5304	VWFD 13. {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)			TTGGAGTCAACGTCACCATCC	0.542																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15910-15912)acG>acA		Fc fragment of IgG binding protein							134	127	129					19																	40357401		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40357401C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15912G>A	19.37:g.40357401C>T							p.T5304T	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15919	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5304			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.15912G>A	CCDS12546.1																																																																																				0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		32	286	0	0	0	1	0	32	286					T	40357401	C	T	40357401	2	4	79	1	0	0	0	0	0	0	0	1	5803	523	19	1		1	FCGBP	19	40357401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3082	40357401	18771582	19199	29516											
FCGBP	8857	broad.mit.edu	37	chr19	40357450	40357450	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacctggcccacagcctccGttttgccatggcagatctgg	12	14	1	1	rs371919834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357450G>A	ENST00000221347.6	-	34	15870	c.15863C>T	c.(15862-15864)aCg>aTg	p.T5288M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5288	VWFD 13. {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)			CACAGCCTCCGTTTTGCCATG	0.547																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15862-15864)aCg>aTg		Fc fragment of IgG binding protein		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	112	105	107		15863	-8.9	0	19		107	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	5288/5406	40357450	1,13005	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40357450G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15863C>T	19.37:g.40357450G>A	ENSP00000221347:p.Thr5288Met						p.T5288M	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15870	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5288			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15863C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082636	0.36758	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.60424	0.19	4.45	-8.91	0.00778	von Willebrand factor, type D domain (3);	3.408990	0.02289	U	0.070141	T	0.47284	0.1437	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.59177	-0.7503	10	0.36615	T	0.2	.	5.0479	0.14494	0.1611:0.0:0.5152:0.3237	.	5288	Q9Y6R7	FCGBP_HUMAN	M	5288	ENSP00000221347:T5288M	ENSP00000221347:T5288M	T	-	2	0	FCGBP	45049290	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.973000	0.01500	-2.355000	0.00614	-1.261000	0.01458	ACG		0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		70	231	0	0	0	1	0	70	231					A	40357450	G	A	40357450	3	1	79	1	0	0	0	0	1	0	0	0	5803	1145	40	1	366	1	FCGBP	19	40357450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	40357450	18771533	19200	29517											
FCGBP	8857	broad.mit.edu	37	chr19	40357475	40357475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccatggcagatctggacttCggcaactacacggtaccagg	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357475C>T	ENST00000221347.6	-	34	15845	c.15838G>A	c.(15838-15840)Gaa>Aaa	p.E5280K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5280	VWFD 13. {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)			ATCTGGACTTCGGCAACTACA	0.577																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15838-15840)Gaa>Aaa		Fc fragment of IgG binding protein							108	100	103					19																	40357475		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40357475C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15838G>A	19.37:g.40357475C>T	ENSP00000221347:p.Glu5280Lys						p.E5280K	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15845	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5280			VWFD 13.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15838G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586176	0.46110	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.45	3.42	0.39159	von Willebrand factor, type D domain (3);	0.479844	0.13730	U	0.366800	T	0.46464	0.1394	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	P	0.56788	0.806	T	0.24404	-1.0161	10	0.20046	T	0.44	.	8.1844	0.31330	0.0:0.8913:0.0:0.1087	.	5280	Q9Y6R7	FCGBP_HUMAN	K	5280	ENSP00000221347:E5280K	ENSP00000221347:E5280K	E	-	1	0	FCGBP	45049315	0.009000	0.17119	0.001000	0.08648	0.003000	0.03518	1.529000	0.35996	1.103000	0.41568	-0.136000	0.14681	GAA		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		58	245	0	0	0	1	0	58	245					T	40357475	C	T	40357475	3	4	79	1	0	0	0	0	1	0	0	0	5803	893	31	1	391	1	FCGBP	19	40357475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	40357475	18771508	19201	29518											
FCGBP	8857	broad.mit.edu	37	chr19	40362919	40362919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggttccggagctgccCgcaggcctcgttgctctcat	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40362919C>T	ENST00000221347.6	-	32	15158	c.15151G>A	c.(15151-15153)Ggg>Agg	p.G5051R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5051	VWFD 12. {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)			CGGAGCTGCCCGCAGGCCTCG	0.672																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15151-15153)Ggg>Agg		Fc fragment of IgG binding protein							46	53	50					19																	40362919		2203	4299	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40362919C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15151G>A	19.37:g.40362919C>T	ENSP00000221347:p.Gly5051Arg						p.G5051R	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15158	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5051			VWFD 12.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.15151G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031002	0.54790	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	4.84	4.84	0.62591	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.000000	0.64402	U	0.000001	D	0.87861	0.6284	M	0.82517	2.595	0.40004	D	0.975208	D	0.89917	1.0	D	0.97110	1.0	D	0.87291	0.2299	10	0.33141	T	0.24	.	14.9744	0.71261	0.0:1.0:0.0:0.0	.	5051	Q9Y6R7	FCGBP_HUMAN	R	5051	ENSP00000221347:G5051R	ENSP00000221347:G5051R	G	-	1	0	FCGBP	45054759	0.047000	0.20315	0.851000	0.33527	0.103000	0.19146	1.926000	0.40084	2.521000	0.84997	0.462000	0.41574	GGG		0.672	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		144	508	0	0	0	1	0	144	508					T	40362919	C	T	40362919	3	4	79	1	0	0	0	0	1	0	0	0	5803	652	23	1	1086	1	FCGBP	19	40362919	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5444	40362919	18766064	19202	29519											
FCGBP	8857	broad.mit.edu	37	chr19	40368526	40368526	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagaagccagggccctcGtactgctccaaccggtcctc	10	18	0	1	rs572540106	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40368526G>A	ENST00000221347.6	-	28	12829	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4274	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657													G|||	3	0.000599042	0.0	0.0	5008	,	,		15797	0.003		0.0	False		,,,				2504	0.0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12820-12822)taC>taT		Fc fragment of IgG binding protein							44	45	45					19																	40368526		2203	4294	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368526G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12822C>T	19.37:g.40368526G>A							p.Y4274Y	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12829	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4274			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12822C>T	CCDS12546.1																																																																																				0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	352	0	0	0	1	0	17	352					A	40368526	G	A	40368526	2	1	79	1	0	0	0	0	0	0	0	1	5803	1140	40	1		1	FCGBP	19	40368526	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5607	40368526	18760457	19203	29520											
FCGBP	8857	broad.mit.edu	37	chr19	40384075	40384075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacacaggggccctcacataCggctggcgtcgtaaggggtg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40384075C>T	ENST00000221347.6	-	21	9542	c.9535G>A	c.(9535-9537)Gta>Ata	p.V3179I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3179	TIL 7.					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)			CCCTCACATACGGCTGGCGTC	0.652																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(9535-9537)Gta>Ata		Fc fragment of IgG binding protein																																				SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40384075C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9535G>A	19.37:g.40384075C>T	ENSP00000221347:p.Val3179Ile						p.V3179I	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		21	9542	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3179			TIL 7.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.9535G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.521	1.108219	0.20714	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	3.01	-2.27	0.06846	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.66790	0.2825	N	0.21583	0.68	0.09310	N	1	P	0.47910	0.902	P	0.49361	0.608	T	0.59295	-0.7481	9	0.22706	T	0.39	.	8.5511	0.33451	0.0:0.5821:0.2724:0.1455	.	3179	Q9Y6R7	FCGBP_HUMAN	I	3179	ENSP00000221347:V3179I	ENSP00000221347:V3179I	V	-	1	0	FCGBP	45075915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.723000	0.01866	-0.364000	0.08088	-0.723000	0.03601	GTA		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		77	869	0	0	0	1	0	77	869					T	40384075	C	T	40384075	3	4	79	1	0	0	0	0	1	0	0	0	5803	536	19	1	6746	1	FCGBP	19	40384075	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15549	40384075	18744908	19204	29521											
FCGBP	8857	broad.mit.edu	37	chr19	40408716	40408716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttccggggacggtgacccGcacatagtacacaaggtcgt	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40408716G>A	ENST00000221347.6	-	8	4130	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1375	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)			ACGGTGACCCGCACATAGTAC	0.582																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(4123-4125)Cgg>Tgg		Fc fragment of IgG binding protein							108	93	98					19																	40408716		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40408716G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4123C>T	19.37:g.40408716G>A	ENSP00000221347:p.Arg1375Trp						p.R1375W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4130	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1375			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.4123C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073992	0.36566	.	.	ENSG00000090920	ENST00000221347	T	0.59906	0.23	4.91	1.21	0.21127	von Willebrand factor, type D domain (3);	0.310015	0.25291	N	0.031721	T	0.43831	0.1265	L	0.60067	1.865	0.27621	N	0.94833	B	0.30851	0.297	B	0.25140	0.058	T	0.35051	-0.9804	10	0.45353	T	0.12	.	3.2293	0.06742	0.0867:0.1356:0.3748:0.403	.	1375	Q9Y6R7	FCGBP_HUMAN	W	1375	ENSP00000221347:R1375W	ENSP00000221347:R1375W	R	-	1	2	FCGBP	45100556	0.000000	0.05858	0.992000	0.48379	0.492000	0.33523	-0.080000	0.11339	0.460000	0.27045	0.644000	0.83932	CGG		0.582	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		44	382	0	0	0	1	0	44	382					A	40408716	G	A	40408716	3	1	79	1	0	0	0	0	1	0	0	0	5803	1086	38	1	12210	1	FCGBP	19	40408716	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24641	40408716	18720267	19205	29522											
FCGBP	8857	broad.mit.edu	37	chr19	40411738	40411738	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccattaccccaggccacgTtctcctgcaggacggcaaac	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40411738T>C	ENST00000221347.6	-	7	3897	c.3890A>G	c.(3889-3891)aAc>aGc	p.N1297S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1297	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)			CCAGGCCACGTTCTCCTGCAG	0.637																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3889-3891)aAc>aGc		Fc fragment of IgG binding protein							56	56	56					19																	40411738		2202	4276	6478	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411738T>C	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.3890A>G	19.37:g.40411738T>C	ENSP00000221347:p.Asn1297Ser						p.N1297S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3897	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1297			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3890A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.235974	0.58886	.	.	ENSG00000090920	ENST00000221347	T	0.59638	0.25	4.54	4.54	0.55810	von Willebrand factor, type D domain (3);	0.060710	0.64402	D	0.000007	T	0.73783	0.3631	M	0.84156	2.68	0.37472	D	0.915654	D	0.89917	1.0	D	0.87578	0.998	T	0.75207	-0.3399	10	0.12766	T	0.61	.	12.9805	0.58562	0.0:0.0:0.0:1.0	.	1297	Q9Y6R7	FCGBP_HUMAN	S	1297	ENSP00000221347:N1297S	ENSP00000221347:N1297S	N	-	2	0	FCGBP	45103578	1.000000	0.71417	0.879000	0.34478	0.915000	0.54546	7.407000	0.80029	1.917000	0.55516	0.358000	0.22013	AAC		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		84	449	0	0	0	1	0	84	449					C	40411738	T	C	40411738	3	2	79	1	0	0	0	0	1	0	0	0	5803	1725	60	4	12447	4	FCGBP	19	40411738	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3022	40411738	18717245	19206	29523											
FCGBP	8857	broad.mit.edu	37	chr19	40421334	40421334	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccccggacccctggcaggTcccgaagcgatcggggtagc	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40421334T>C	ENST00000221347.6	-	5	2594	c.2587A>G	c.(2587-2589)Acc>Gcc	p.T863A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	863	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)			CCCTGGCAGGTCCCGAAGCGA	0.682																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2587-2589)Acc>Gcc		Fc fragment of IgG binding protein							20	21	20					19																	40421334		2199	4298	6497	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40421334T>C	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.2587A>G	19.37:g.40421334T>C	ENSP00000221347:p.Thr863Ala						p.T863A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		5	2594	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		863			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2587A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436705	0.43224	.	.	ENSG00000090920	ENST00000221347	T	0.21191	2.02	4.06	4.06	0.47325	von Willebrand factor, type D domain (2);	0.536654	0.16074	N	0.230839	T	0.36771	0.0979	M	0.91872	3.25	0.24075	N	0.995967	B	0.29571	0.249	B	0.37601	0.254	T	0.35968	-0.9767	10	0.18710	T	0.47	.	12.4173	0.55500	0.0:0.0:0.0:1.0	.	863	Q9Y6R7	FCGBP_HUMAN	A	863	ENSP00000221347:T863A	ENSP00000221347:T863A	T	-	1	0	FCGBP	45113174	0.001000	0.12720	0.092000	0.20876	0.195000	0.23768	0.973000	0.29422	1.845000	0.53610	0.402000	0.26972	ACC		0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		19	78	0	0	0	1	0	19	78					C	40421334	T	C	40421334	3	2	79	1	0	0	0	0	1	0	0	0	5803	1667	58	4	13758	4	FCGBP	19	40421334	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9596	40421334	18707649	19207	29524											
FCGBP	8857	broad.mit.edu	37	chr19	40424170	40424170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggggccatcgagcttgGtcagcatgccacagagtcgg	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40424170G>A	ENST00000221347.6	-	4	2040	c.2033C>T	c.(2032-2034)aCc>aTc	p.T678I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	678	VWFD 1. {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)			ATCGAGCTTGGTCAGCATGCC	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2032-2034)aCc>aTc		Fc fragment of IgG binding protein							198	186	190					19																	40424170		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40424170G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2033C>T	19.37:g.40424170G>A	ENSP00000221347:p.Thr678Ile						p.T678I	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		4	2040	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		678			VWFD 1.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2033C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987085	0.35036	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	5.34	4.22	0.49857	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.350163	0.20395	N	0.093180	T	0.77532	0.4144	L	0.57130	1.785	0.27972	N	0.936382	P	0.37370	0.592	B	0.41174	0.349	T	0.74426	-0.3669	10	0.51188	T	0.08	.	15.8228	0.78673	0.0:0.187:0.813:0.0	.	678	Q9Y6R7	FCGBP_HUMAN	I	678	ENSP00000221347:T678I	ENSP00000221347:T678I	T	-	2	0	FCGBP	45116010	0.003000	0.15002	0.951000	0.38953	0.604000	0.37047	0.458000	0.21892	2.506000	0.84524	0.650000	0.86243	ACC		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		269	1171	0	0	0	1	0	269	1171					A	40424170	G	A	40424170	3	1	79	1	0	0	0	0	1	0	0	0	5803	1261	44	2	14316	2	FCGBP	19	40424170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2836	40424170	18704813	19208	29525											
FCGBP	8857	broad.mit.edu	37	chr19	40433172	40433172	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggtcagcccgctgataGccttcgtctgtgccactacc	9	15	2	1	rs368039528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433172G>A	ENST00000221347.6	-	2	1104	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	366	IgGFc-binding.					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)			CCCGCTGATAGCCTTCGTCTG	0.617																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1096-1098)gCt>gTt		Fc fragment of IgG binding protein		G	VAL/ALA	1,4405		0,1,2202	111	82	92		1097	0.9	0	19		92	0,8600		0,0,4300	no	missense	FCGBP	NM_003890.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	366/5406	40433172	1,13005	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433172G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.1097C>T	19.37:g.40433172G>A	ENSP00000221347:p.Ala366Val						p.A366V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1104	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		366			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.1097C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962481	0.53400	2.27E-4	0.0	ENSG00000090920	ENST00000221347	T	0.19250	2.16	4.36	0.89	0.19218	.	0.618007	0.13024	N	0.419844	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	B	0.42386	0.386	T	0.17806	-1.0357	10	0.56958	D	0.05	.	7.6149	0.28152	0.0814:0.0:0.6274:0.2912	.	366	Q9Y6R7	FCGBP_HUMAN	V	366	ENSP00000221347:A366V	ENSP00000221347:A366V	A	-	2	0	FCGBP	45125012	0.000000	0.05858	0.006000	0.13384	0.013000	0.08279	0.378000	0.20569	0.305000	0.22832	0.655000	0.94253	GCT		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	250	0	0	0	1	0	17	250					A	40433172	G	A	40433172	3	1	79	1	0	0	0	0	1	0	0	0	5803	971	34	2	15260	2	FCGBP	19	40433172	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9002	40433172	18695811	19209	29526											
FCGBP	8857	broad.mit.edu	37	chr19	40433216	40433216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccacgccctcacagcctggTacactcttgaccacataggc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433216T>C	ENST00000221347.6	-	2	1060	c.1053A>G	c.(1051-1053)gtA>gtG	p.V351V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	351	IgGFc-binding.					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)			CACAGCCTGGTACACTCTTGA	0.592																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(1051-1053)gtA>gtG		Fc fragment of IgG binding protein							73	59	64					19																	40433216		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433216T>C	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.1053A>G	19.37:g.40433216T>C							p.V351V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	1060	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		351			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.1053A>G	CCDS12546.1																																																																																				0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		36	203	0	0	0	1	0	36	203					C	40433216	T	C	40433216	2	2	79	1	0	0	0	0	0	0	0	1	5803	1625	57	4		4	FCGBP	19	40433216	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44	40433216	18695767	19210	29527											
PSMC4	5704	broad.mit.edu	37	chr19	40480536	40480536	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacgcatttcgagctctacaAgcaggtgaggcggtgcaggt	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40480536A>G	ENST00000157812.2	+	5	773	c.575A>G	c.(574-576)aAg>aGg	p.K192R	PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	192					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)					GAGCTCTACAAGCAGGTGAGG	0.617																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(574-576)aAg>aGg		proteasome (prosome, macropain) 26S subunit, ATPase, 4							49	53	51					19																	40480536		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40480536A>G	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.575A>G	19.37:g.40480536A>G	ENSP00000157812:p.Lys192Arg					PSMC4_ENST00000455878.2_Missense_Mutation_p.K161R	p.K192R	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			5	773	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		192					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.575A>G	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	a	15.76	2.927663	0.52759	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94897	-3.55;-3.55	5.19	5.19	0.71726	.	0.047137	0.85682	D	0.000000	D	0.88001	0.6320	N	0.11845	0.185	0.58432	D	0.999995	B;B	0.10296	0.001;0.003	B;B	0.10450	0.005;0.003	D	0.83962	0.0322	10	0.39692	T	0.17	-7.8807	12.9876	0.58599	1.0:0.0:0.0:0.0	.	161;192	P43686-2;P43686	.;PRS6B_HUMAN	R	192;161	ENSP00000157812:K192R;ENSP00000413869:K161R	ENSP00000157812:K192R	K	+	2	0	PSMC4	45172376	1.000000	0.71417	0.900000	0.35374	0.768000	0.43524	8.970000	0.93415	1.948000	0.56530	0.402000	0.26972	AAG		0.617	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		59	303	0	0	0	1	0	59	303					G	40480536	A	G	40480536	3	3	79	1	0	0	0	0	1	0	0	0	12736	72	3	4	593	4	PSMC4	19	40480536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	47320	40480536	18648447	19211	29528											
PSMC4	5704	broad.mit.edu	37	chr19	40485876	40485876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccatcgccaccaagagattcGatgctcagacagggggtaag	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40485876G>A	ENST00000157812.2	+	7	1024	c.826G>A	c.(826-828)Gat>Aat	p.D276N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	276					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)					CAAGAGATTCGATGCTCAGAC	0.582																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(826-828)Gat>Aat		proteasome (prosome, macropain) 26S subunit, ATPase, 4							70	67	68					19																	40485876		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40485876G>A	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.826G>A	19.37:g.40485876G>A	ENSP00000157812:p.Asp276Asn					PSMC4_ENST00000455878.2_Missense_Mutation_p.D245N	p.D276N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			7	1024	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		276					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.826G>A	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	17.19	3.327241	0.60743	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94966	-3.57;-3.57	5.92	4.89	0.63831	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95698	0.8601	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.91635	0.723;0.999	D	0.95885	0.8902	10	0.72032	D	0.01	-5.2356	12.746	0.57281	0.079:0.0:0.921:0.0	.	245;276	P43686-2;P43686	.;PRS6B_HUMAN	N	276;245	ENSP00000157812:D276N;ENSP00000413869:D245N	ENSP00000157812:D276N	D	+	1	0	PSMC4	45177716	1.000000	0.71417	0.711000	0.30485	0.045000	0.14185	9.588000	0.98232	1.517000	0.48917	0.561000	0.74099	GAT		0.582	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		42	135	0	0	0	1	0	42	135					A	40485876	G	A	40485876	3	1	79	1	0	0	0	0	1	0	0	0	12736	1058	37	1	852	1	PSMC4	19	40485876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5340	40485876	18643107	19212	29529											
PSMC4	5704	broad.mit.edu	37	chr19	40486024	40486024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggagctgctgaatcagatgGatggatttgatcagaatgtc	13	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486024G>A	ENST00000157812.2	+	8	1087	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	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)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(889-891)Gat>Aat		proteasome (prosome, macropain) 26S subunit, ATPase, 4							163	158	159					19																	40486024		2203	4300	6503	SO:0001583	missense	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40486024G>A	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>A	19.37:g.40486024G>A	ENSP00000157812:p.Asp297Asn					PSMC4_ENST00000455878.2_Missense_Mutation_p.D266N	p.D297N	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			8	1087	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		297					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.889G>A	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319831	0.81469	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95918	-3.85;-3.85	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98674	1.0689	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	N	297;266	ENSP00000157812:D297N;ENSP00000413869:D266N	ENSP00000157812:D297N	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		0.552	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		12	316	0	0	0	1	0	12	316					A	40486024	G	A	40486024	3	1	79	1	0	0	0	0	1	0	0	0	12736	1174	41	2	919	2	PSMC4	19	40486024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	40486024	18642959	19213	29530											
PSMC4	5704	broad.mit.edu	37	chr19	40486618	40486618	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgatattaactccatctgTcaggaggtaagtggtggttt	12	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486618T>C	ENST00000157812.2	+	10	1335	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	PSMC4_ENST00000455878.2_Silent_p.C348C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	379					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|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)					ACTCCATCTGTCAGGAGGTAA	0.532																																					Colon(105;1478 1543 4034 6132 38638)	ENST00000157812.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1135-1137)tgT>tgC		proteasome (prosome, macropain) 26S subunit, ATPase, 4							140	135	137					19																	40486618		2203	4300	6503	SO:0001819	synonymous_variant	5704				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40486618T>C	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.1137T>C	19.37:g.40486618T>C						PSMC4_ENST00000455878.2_Silent_p.C348C	p.C379C	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN			10	1335	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		379					Q96FV5|Q9UBM3|Q9UEX3	Silent	SNP	ENST00000157812.2	37	c.1137T>C	CCDS12547.1																																																																																				0.532	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		78	464	0	0	0	1	0	78	464					C	40486618	T	C	40486618	2	2	79	1	0	0	0	0	0	0	0	1	12736	1673	58	4		4	PSMC4	19	40486618	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	594	40486618	18642365	19214	29531											
ZNF546	339327	broad.mit.edu	37	chr19	40504294	40504294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctcatttttcaaatcattCctctgcactcactttctata	1	12	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40504294C>T	ENST00000347077.4	+	3	277	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCAAATCATTCCTCTGCACTC	0.403																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(61-63)Cct>Tct		zinc finger protein 546							96	93	94					19																	40504294		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40504294C>T	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.61C>T	19.37:g.40504294C>T	ENSP00000339823:p.Pro21Ser					ZNF546_ENST00000600094.1_Intron|ZNF546_ENST00000596894.1_Intron	p.P21S	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			3	277	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		21					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.61C>T	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	c	6.497	0.459971	0.12342	.	.	ENSG00000187187	ENST00000347077	T	0.05855	3.38	1.66	-2.3	0.06785	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	9	0.21540	T	0.41	.	2.7014	0.05149	0.0:0.3319:0.2577:0.4104	.	21	Q86UE3	ZN546_HUMAN	S	21	ENSP00000339823:P21S	ENSP00000339823:P21S	P	+	1	0	ZNF546	45196134	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.425000	0.07017	-0.575000	0.05982	-0.142000	0.14014	CCT		0.403	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		23	200	0	0	0	1	0	23	200					T	40504294	C	T	40504294	3	4	79	1	0	0	0	0	1	0	0	0	18031	855	30	2	63	2	ZNF546	19	40504294	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17676	40504294	18624689	19215	29532											
ZNF546	339327	broad.mit.edu	37	chr19	40513257	40513257	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggacgctgtgcagagggActtgtacaaggatgtgatgt	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40513257A>G	ENST00000347077.4	+	5	464	c.248A>G	c.(247-249)gAc>gGc	p.D83G	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGCAGAGGGACTTGTACAAG	0.458																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(247-249)gAc>gGc		zinc finger protein 546							150	128	135					19																	40513257		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40513257A>G	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.248A>G	19.37:g.40513257A>G	ENSP00000339823:p.Asp83Gly					ZNF546_ENST00000600094.1_Missense_Mutation_p.D57G|ZNF546_ENST00000596894.1_Intron	p.D83G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			5	464	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		83			KRAB.		A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.248A>G	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	a	8.936	0.964725	0.18583	.	.	ENSG00000187187	ENST00000347077	T	0.01838	4.61	2.83	0.492	0.16872	Krueppel-associated box (4);	.	.	.	.	T	0.02727	0.0082	L	0.61036	1.89	0.23962	N	0.996332	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.46062	-0.9218	9	0.23302	T	0.38	.	4.3135	0.10982	0.3651:0.4817:0.1532:0.0	.	57;83	B3KVL3;Q86UE3	.;ZN546_HUMAN	G	83	ENSP00000339823:D83G	ENSP00000339823:D83G	D	+	2	0	ZNF546	45205097	0.000000	0.05858	0.682000	0.30024	0.667000	0.39255	-1.491000	0.02302	-0.053000	0.13289	0.450000	0.29827	GAC		0.458	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		76	333	0	0	0	1	0	76	333					G	40513257	A	G	40513257	3	3	79	1	0	0	0	0	1	0	0	0	18031	275	10	4	258	4	ZNF546	19	40513257	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8963	40513257	18615726	19216	29533											
ZNF546	339327	broad.mit.edu	37	chr19	40521033	40521033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaatgtgggaaagcctttcGatttcaaacagaacttactc	8	8	1	2	rs373735181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40521033G>A	ENST00000347077.4	+	7	2072	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R619Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGCCTTTCGATTTCAAACA	0.363																																						ENST00000347077.4																			1	Substitution - Missense(1)	p.R619Q(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1855-1857)cGa>cAa		zinc finger protein 546		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	45	48	47		1856	1.8	0.1	19		47	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	619/837	40521033	1,13005	2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521033G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1856G>A	19.37:g.40521033G>A	ENSP00000339823:p.Arg619Gln					ZNF546_ENST00000600094.1_Missense_Mutation_p.R593Q|ZNF546_ENST00000596894.1_Intron	p.R619Q	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2072	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		619					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1856G>A	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.223971	0.39300	2.27E-4	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.52754	0.65	2.91	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43478	0.1249	N	0.26130	0.795	0.09310	N	1	D	0.76494	0.999	P	0.58331	0.837	T	0.17868	-1.0355	9	0.37606	T	0.19	.	3.904	0.09174	0.1318:0.0:0.6354:0.2327	.	619	Q86UE3	ZN546_HUMAN	Q	619;228	ENSP00000339823:R619Q	ENSP00000339823:R619Q	R	+	2	0	ZNF546	45212873	0.000000	0.05858	0.081000	0.20488	0.968000	0.65278	-2.640000	0.00865	0.744000	0.32741	0.591000	0.81541	CGA		0.363	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		45	168	0	0	0	1	0	45	168					A	40521033	G	A	40521033	3	1	79	1	0	0	0	0	1	0	0	0	18031	1058	37	1	1874	1	ZNF546	19	40521033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7776	40521033	18607950	19217	29534											
ZNF780B	163131	broad.mit.edu	37	chr19	40542318	40542318	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaagcatgagtataagcagGcatttcttcatagctgatga	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40542318G>T	ENST00000434248.1	-	5	513	c.448C>A	c.(448-450)Cct>Act	p.P150T	ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)					GTATAAGCAGGCATTTCTTCA	0.343																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(448-450)Cct>Act		zinc finger protein 780B							121	127	125					19																	40542318		2182	4288	6470	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40542318G>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"Zinc fingers, C2H2-type", "-"	33109	protein-coding gene	gene with protein product			"zinc finger protein 779"	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.448C>A	19.37:g.40542318G>T	ENSP00000391641:p.Pro150Thr					ZNF780B_ENST00000221355.6_Missense_Mutation_p.P2T	p.P150T	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN			5	513	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		150					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.448C>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	3.475	-0.107085	0.06924	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.06371	3.49;3.31	2.14	-0.299	0.12808	.	.	.	.	.	T	0.04272	0.0118	N	0.17345	0.48	0.09310	N	1	P	0.48764	0.915	B	0.43413	0.419	T	0.39603	-0.9606	9	0.72032	D	0.01	.	4.6214	0.12450	0.5191:0.0:0.4809:0.0	.	150	Q9Y6R6	Z780B_HUMAN	T	150;2	ENSP00000391641:P150T;ENSP00000221355:P2T	ENSP00000221355:P2T	P	-	1	0	ZNF780B	45234158	.	.	0.011000	0.14972	0.073000	0.16967	.	.	0.192000	0.20272	0.313000	0.20887	CCT		0.343	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		54	211	1	0	1.51943e-15	1	1.66198e-15	54	211					T	40542318	G	T	40542318	3	4	79	1	0	0	0	0	1	0	0	0	18206	1203	42	3	2057	3	ZNF780B	19	40542318	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21285	40542318	18586665	19218	29535											
ZNF780A	284323	broad.mit.edu	37	chr19	40581425	40581425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaaaggccatcccacattcCttacatacaaagggtttctc	6	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40581425C>T	ENST00000595687.2	-	6	1133	c.924G>A	c.(922-924)aaG>aaA	p.K308K	ZNF780A_ENST00000455521.1_Silent_p.K309K|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000450241.2_Silent_p.K274K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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)	p.K274N(1)|p.K309N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCCACATTCCTTACATACAA	0.388																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.K274N(1)|p.K309N(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(820-822)aaG>aaA		zinc finger protein 780A							174	169	171					19																	40581425		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581425C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.924G>A	19.37:g.40581425C>T						AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.K309K|ZNF780A_ENST00000595687.2_Silent_p.K308K|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.K308K|ZNF780A_ENST00000455521.1_Silent_p.K309K	p.K274K			O75290	Z780A_HUMAN			6	1133	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		308					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.822G>A	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		167	690	0	0	0	1	0	167	690					T	40581425	C	T	40581425	2	4	79	1	0	0	0	0	0	0	0	1	18205	680	24	2		2	ZNF780A	19	40581425	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39107	40581425	18547558	19219	29536											
MAP3K10	4294	broad.mit.edu	37	chr19	40719444	40719444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagttcgcggaggcagagGatggaggcagcagcgtgccc	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40719444G>A	ENST00000253055.3	+	9	2146	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	620					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						GGAGGCAGAGGATGGAGGCAG	0.721																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1858-1860)Gat>Aat		mitogen-activated protein kinase kinase kinase 10							17	18	18					19																	40719444		2202	4295	6497	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40719444G>A	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.1858G>A	19.37:g.40719444G>A	ENSP00000253055:p.Asp620Asn						p.D620N	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			9	2146	+			620					Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1858G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822251	0.32237	.	.	ENSG00000130758	ENST00000253055	T	0.75367	-0.93	4.49	4.49	0.54785	.	0.953020	0.08742	N	0.900357	T	0.69351	0.3101	L	0.36672	1.1	0.35487	D	0.798683	B	0.19817	0.039	B	0.21917	0.037	T	0.65796	-0.6081	10	0.49607	T	0.09	.	14.6516	0.68800	0.0:0.0:1.0:0.0	.	620	Q02779	M3K10_HUMAN	N	620	ENSP00000253055:D620N	ENSP00000253055:D620N	D	+	1	0	MAP3K10	45411284	0.663000	0.27448	0.671000	0.29857	0.238000	0.25445	1.213000	0.32407	2.040000	0.60383	0.313000	0.20887	GAT		0.721	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		34	116	0	0	0	1	0	34	116					A	40719444	G	A	40719444	3	1	79	1	0	0	0	0	1	0	0	0	9285	1174	41	2	1892	2	MAP3K10	19	40719444	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138019	40719444	18409539	19220	29537											
TTC9B	148014	broad.mit.edu	37	chr19	40724059	40724059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcccggaacttcttctctCgatagcagcgctggccctct	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40724059C>T	ENST00000311308.6	-	1	247	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	77					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CTTCTTCTCTCGATAGCAGCG	0.736																																						ENST00000311308.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(229-231)cGa>cAa		tetratricopeptide repeat domain 9B							32	28	29					19																	40724059		2202	4298	6500	SO:0001583	missense	148014						binding	g.chr19:40724059C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"Tetratricopeptide (TTC) repeat domain containing"	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.230G>A	19.37:g.40724059C>T	ENSP00000311760:p.Arg77Gln						p.R77Q	NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN			1	247	-			77					A8K0I5|Q96NP9	Missense_Mutation	SNP	ENST00000311308.6	37	c.230G>A	CCDS12550.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829604	0.91036	.	.	ENSG00000174521	ENST00000311308	T	0.15718	2.4	4.46	4.46	0.54185	Tetratricopeptide-like helical (1);	0.154213	0.43260	N	0.000583	T	0.15089	0.0364	L	0.42529	1.33	0.35092	D	0.764423	D	0.53312	0.959	B	0.42462	0.388	T	0.18241	-1.0343	10	0.52906	T	0.07	-4.3192	8.5051	0.33181	0.0:0.8921:0.0:0.1079	.	77	Q8N6N2	TTC9B_HUMAN	Q	77	ENSP00000311760:R77Q	ENSP00000311760:R77Q	R	-	2	0	TTC9B	45415899	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.290000	0.65661	2.049000	0.60858	0.289000	0.19496	CGA		0.736	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		10	148	0	0	0	1	0	10	148					T	40724059	C	T	40724059	3	4	79	1	0	0	0	0	1	0	0	0	16770	884	31	1	501	1	TTC9B	19	40724059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4615	40724059	18404924	19221	29538											
AKT2	208	broad.mit.edu	37	chr19	40743876	40743876	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgcacaccctgccactaacCttgatgtcgcggtataccac	8	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40743876C>A	ENST00000392038.2	-	9	1129	c.831G>T	c.(829-831)aaG>aaT	p.K277N	AKT2_ENST00000579047.1_Splice_Site_p.K215N|AKT2_ENST00000424901.1_Splice_Site_p.K277N|AKT2_ENST00000311278.6_Splice_Site_p.K277N	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	277	Inhibitor binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGCCACTAACCTTGATGTCGC	0.592			A		"ovarian, pancreatic "																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"ovarian, pancreatic "		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.e9+1		v-akt murine thymoma viral oncogene homolog 2							111	76	88					19																	40743876		2203	4300	6503	SO:0001630	splice_region_variant	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40743876C>A	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.831+1G>T	19.37:g.40743876C>A						AKT2_ENST00000311278.6_Splice_Site_p.K277_splice|AKT2_ENST00000579047.1_Splice_Site_p.K215_splice|AKT2_ENST00000424901.1_Splice_Site_p.K277_splice	p.K277_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		9	1129	-			277			Protein kinase.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Splice_Site	SNP	ENST00000392038.2	37	c.831_splice	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981905	0.93044	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	D;D;D	0.91124	-2.79;-2.79;-2.79	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	D	0.96824	0.8963	H	0.95224	3.64	0.80722	D	1	D;D;D	0.69078	0.997;0.983;0.997	D;D;D	0.79784	0.993;0.968;0.993	D	0.97672	1.0167	9	.	.	.	.	17.698	0.88286	0.0:1.0:0.0:0.0	.	215;277;277	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	N	277;178;277;277;97	ENSP00000375892:K277N;ENSP00000399532:K277N;ENSP00000309428:K277N	.	K	-	3	2	AKT2	45435716	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.585000	0.82584	2.778000	0.95560	0.655000	0.94253	AAG		0.592	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626	Missense_Mutation	9	100	1	0	4.36969e-10	1	4.6211e-10	9	100					A	40743876	C	A	40743876	5	1	79	1	0	0	0	0	0	0	1	0	480	695	24	3	638	3	AKT2	19	40743876	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19817	40743876	18385107	19222	29539											
C19orf47	126526	broad.mit.edu	37	chr19	40834399	40834399	+	Frame_Shift_Del	DEL	G	G	-													gtgctggtgtccgggcgcctGgggggtgtgctgggtggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40834399delG	ENST00000582783.1	-	6	483	c.471delC	c.(469-471)cccfs	p.P157fs	C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	157						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCGGGCGCCTGGGGGGTGTGC	0.612																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-471)ccfs		chromosome 19 open reading frame 47							156	160	158					19																	40834399		2203	4300	6503	SO:0001589	frameshift_variant	126526							g.chr19:40834399delG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.471delC	19.37:g.40834399delG	ENSP00000463159:p.Pro157fs					C19orf47_ENST00000392035.2_Frame_Shift_Del_p.P90fs	p.P157fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483	-			157					Q8IZ33|Q8N0V9	Frame_Shift_Del	DEL	ENST00000582783.1	37	c.471delC	CCDS58662.1																																																																																				0.612	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		8	1159						8	1159	---	---	---	---	-	40834399	G	-	40834399	7	5	79	1	0	1	0	1	0	0	0	0	1937	1335	47	0	813	0	C19orf47	19	40834399	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	90523	40834399	18294584	19223	29540											
PLD3	23646	broad.mit.edu	37	chr19	40884077	40884077	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggcaacgcctgccgcctgctCtgaggcccgatccagtgggc	14	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40884077C>A	ENST00000409587.1	+	13	1867	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L|PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	490					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCGCCTGCTCTGAGGCCCGA	0.687																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1468-1470)ctC>ctA		phospholipase D family, member 3							61	62	62					19																	40884077		2203	4299	6502	SO:0001819	synonymous_variant	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40884077C>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1470C>A	19.37:g.40884077C>A						PLD3_ENST00000409735.4_Silent_p.L490L|PLD3_ENST00000356508.5_Silent_p.L490L|PLD3_ENST00000409419.1_Silent_p.L490L|PLD3_ENST00000409281.1_Silent_p.L490L	p.L490L			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		13	1867	+			490					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.1470C>A	CCDS33027.1																																																																																				0.687	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		109	506	1	0	3.0332e-58	1	3.802e-58	109	506					A	40884077	C	A	40884077	2	1	79	1	0	0	0	0	0	0	0	1	12089	900	32	3		3	PLD3	19	40884077	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49678	40884077	18244906	19224	29541											
HIPK4	147746	broad.mit.edu	37	chr19	40885655	40885655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccaggacagctgctggggtCgaagagctcagggtctggcc	16	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40885655C>T	ENST00000291823.2	-	4	1974	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	564					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGCTGGGGTCGAAGAGCTCA	0.637																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1690-1692)Gac>Aac		homeodomain interacting protein kinase 4							19	21	20					19																	40885655		2201	4297	6498	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40885655C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1690G>A	19.37:g.40885655C>T	ENSP00000291823:p.Asp564Asn						p.D564N	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		4	1974	-			564					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1690G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760290	0.49468	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.68903	-0.36	5.12	3.01	0.34805	.	0.210963	0.33110	N	0.005276	T	0.49983	0.1589	L	0.27053	0.805	0.33448	D	0.583264	B	0.13594	0.008	B	0.08055	0.003	T	0.55988	-0.8053	10	0.87932	D	0	.	7.9341	0.29920	0.0:0.8099:0.0:0.1901	.	564	Q8NE63	HIPK4_HUMAN	N	564;529	ENSP00000291823:D564N	ENSP00000291823:D564N	D	-	1	0	HIPK4	45577495	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	0.864000	0.27926	0.685000	0.31468	0.462000	0.41574	GAC		0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		19	106	0	0	0	1	0	19	106					T	40885655	C	T	40885655	3	4	79	1	0	0	0	0	1	0	0	0	7149	884	31	1	164	1	HIPK4	19	40885655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1578	40885655	18243328	19225	29542											
HIPK4	147746	broad.mit.edu	37	chr19	40889760	40889760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcagggtgggggttgCgcttgaagaagtggtgggcc	20	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889760C>T	ENST00000291823.2	-	2	1036	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGGGTTGCGCTTGAAGAA	0.617																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(751-753)cGc>cAc		homeodomain interacting protein kinase 4							65	69	68					19																	40889760		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40889760C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.752G>A	19.37:g.40889760C>T	ENSP00000291823:p.Arg251His						p.R251H	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	1036	-			251			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.752G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665394	0.88251	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20463	2.07	5.97	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);	0.442639	0.21619	N	0.071672	T	0.33381	0.0861	L	0.41415	1.275	0.29641	N	0.844739	D	0.63046	0.992	P	0.59643	0.861	T	0.17440	-1.0369	10	0.72032	D	0.01	.	13.5773	0.61881	0.1558:0.8442:0.0:0.0	.	251	Q8NE63	HIPK4_HUMAN	H	251;216	ENSP00000291823:R251H	ENSP00000291823:R251H	R	-	2	0	HIPK4	45581600	0.977000	0.34250	0.999000	0.59377	0.818000	0.46254	2.702000	0.47102	1.472000	0.48140	0.655000	0.94253	CGC		0.617	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		66	329	0	0	0	1	0	66	329					T	40889760	C	T	40889760	3	4	79	1	0	0	0	0	1	0	0	0	7149	768	27	1	1110	1	HIPK4	19	40889760	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4105	40889760	18239223	19226	29543											
HIPK4	147746	broad.mit.edu	37	chr19	40889978	40889978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggggcccggtagaagcgCgactggatgtatggctcctt	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889978C>T	ENST00000291823.2	-	2	818	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGTAGAAGCGCGACTGGATGT	0.637																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(532-534)tcG>tcA		homeodomain interacting protein kinase 4							62	59	60					19																	40889978		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40889978C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.534G>A	19.37:g.40889978C>T							p.S178S	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		2	818	-			178			Protein kinase.		A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.534G>A	CCDS12555.1																																																																																				0.637	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		85	369	0	0	0	1	0	85	369					T	40889978	C	T	40889978	2	4	79	1	0	0	0	0	0	0	0	1	7149	755	27	1		1	HIPK4	19	40889978	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	218	40889978	18239005	19227	29544											
HIPK4	147746	broad.mit.edu	37	chr19	40895661	40895661	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagctcgttcttgatgatgCggttgcggtaggcgtcattc	13	9	3	2	rs146668696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40895661C>T	ENST00000291823.2	-	1	433	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTGATGATGCGGTTGCGGTA	0.607																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(148-150)cGc>cAc		homeodomain interacting protein kinase 4		C	HIS/ARG	0,4406		0,0,2203	166	141	149		149	2.8	0.9	19	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	missense	HIPK4	NM_144685.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	50/617	40895661	1,13005	2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40895661C>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.149G>A	19.37:g.40895661C>T	ENSP00000291823:p.Arg50His						p.R50H	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		1	433	-			50			Protein kinase.		A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.149G>A	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692122	0.30052	0.0	1.16E-4	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.65916	-0.18	4.93	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127834	0.36303	N	0.002673	T	0.45677	0.1354	N	0.25485	0.75	0.25777	N	0.984778	B	0.13145	0.007	B	0.14578	0.011	T	0.41270	-0.9518	10	0.56958	D	0.05	.	8.2578	0.31766	0.0:0.7512:0.0:0.2488	.	50	Q8NE63	HIPK4_HUMAN	H	50;15	ENSP00000291823:R50H	ENSP00000291823:R50H	R	-	2	0	HIPK4	45587501	0.006000	0.16342	0.928000	0.36995	0.676000	0.39594	0.548000	0.23314	0.697000	0.31718	-0.983000	0.02560	CGC		0.607	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		105	747	0	0	0	1	0	105	747					T	40895661	C	T	40895661	3	4	79	1	0	0	0	0	1	0	0	0	7149	768	27	1	1717	1	HIPK4	19	40895661	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5683	40895661	18233322	19228	29545											
PRX	57716	broad.mit.edu	37	chr19	40902345	40902345	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccttcgggagtttcacCtcagggagtttcatctcagg	12	11	4	0	rs575492732	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902345C>T	ENST00000324001.7	-	7	2184	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	638	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGTTTCACCTCAGGGAGTT	0.582																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1912-1914)gaG>gaA		periaxin							89	101	97					19																	40902345		2203	4299	6502	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902345C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1914G>A	19.37:g.40902345C>T						PRX_ENST00000291825.7_3'UTR	p.E638E	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2184	-			638			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1914G>A	CCDS33028.1																																																																																				0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		20	1051	0	0	0	1	0	20	1051					T	40902345	C	T	40902345	2	4	79	1	0	0	0	0	0	0	0	1	12689	680	24	2		2	PRX	19	40902345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6684	40902345	18226638	19229	29546											
PRX	57716	broad.mit.edu	37	chr19	40902860	40902860	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccttggggagctccacctCtgggagtcgaacctctggaa	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902860C>A	ENST00000324001.7	-	7	1669	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	467	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTCCACCTCTGGGAGTCGA	0.597																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1399-1401)Gag>Tag		periaxin							78	89	85					19																	40902860		2203	4300	6503	SO:0001587	stop_gained	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902860C>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1399G>T	19.37:g.40902860C>A	ENSP00000326018:p.Glu467*					PRX_ENST00000291825.7_3'UTR	p.E467*	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1669	-			467			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Nonsense_Mutation	SNP	ENST00000324001.7	37	c.1399G>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699520	0.88830	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	.	.	.	4.14	3.08	0.35506	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.25965	N	0.982578	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-23.9548	7.2074	0.25915	0.0:0.7304:0.1748:0.0948	.	.	.	.	X	467	.	ENSP00000326018:E467X	E	-	1	0	PRX	45594700	0.001000	0.12720	0.098000	0.21074	0.334000	0.28698	0.561000	0.23515	1.089000	0.41292	0.462000	0.41574	GAG		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		193	771	1	0	6.90432e-84	1	8.84267e-84	193	771					A	40902860	C	A	40902860	4	1	79	1	0	0	0	0	0	1	0	0	12689	922	32	3	2990	3	PRX	19	40902860	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	515	40902860	18226123	19230	29547											
PRX	57716	broad.mit.edu	37	chr19	40904649	40904649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagactttgtaaggctcggCgcattgcagcaggcgtagtg	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40904649C>T	ENST00000324001.7	-	6	529	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PRX_ENST00000291825.7_Missense_Mutation_p.A87T	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	87	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)			TAAGGCTCGGCGCATTGCAGC	0.647																																						ENST00000291825.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(259-261)Gcc>Acc		periaxin							71	62	65					19																	40904649		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40904649C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.259G>A	19.37:g.40904649C>T	ENSP00000326018:p.Ala87Thr					PRX_ENST00000324001.7_Missense_Mutation_p.A87T	p.A87T	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	527	-			87			PDZ.		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.259G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177345	0.78564	.	.	ENSG00000105227	ENST00000324001;ENST00000291825;ENST00000341562	T;T	0.04015	3.73;3.73	5.18	5.18	0.71444	PDZ/DHR/GLGF (2);	0.055231	0.64402	D	0.000001	T	0.16041	0.0386	L	0.46819	1.47	0.53005	D	0.999968	D;D	0.76494	0.997;0.999	P;D	0.66847	0.715;0.947	T	0.00249	-1.1879	10	0.66056	D	0.02	-21.7664	17.4638	0.87627	0.0:1.0:0.0:0.0	.	87;87	Q9BXM0-2;Q9BXM0	.;PRAX_HUMAN	T	87	ENSP00000326018:A87T;ENSP00000291825:A87T	ENSP00000291825:A87T	A	-	1	0	PRX	45596489	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	4.163000	0.58183	2.433000	0.82419	0.561000	0.74099	GCC		0.647	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		56	298	0	0	0	1	0	56	298					T	40904649	C	T	40904649	3	4	79	1	0	0	0	0	1	0	0	0	12689	768	27	1	4197	1	PRX	19	40904649	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1789	40904649	18224334	19231	29548											
SERTAD1	29950	broad.mit.edu	37	chr19	40929186	40929186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcaggtgggctaggcaCaggtggcagggcagccgcgg	21	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40929186C>T	ENST00000357949.4	-	2	426	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	90					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)			GGGCTAGGCACAGGTGGCAGG	0.672																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(268-270)Gtg>Atg		SERTA domain containing 1							14	16	15					19																	40929186		2196	4291	6487	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929186C>T	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.268G>A	19.37:g.40929186C>T	ENSP00000350633:p.Val90Met						p.V90M	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	426	-			90					Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.268G>A	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010296	0.35511	.	.	ENSG00000197019	ENST00000357949	T	0.45276	0.9	4.94	4.94	0.65067	.	0.786233	0.11520	N	0.555829	T	0.28499	0.0705	N	0.14661	0.345	0.27912	N	0.938579	P	0.44090	0.826	B	0.37833	0.259	T	0.09818	-1.0657	10	0.36615	T	0.2	-8.3617	15.0822	0.72122	0.0:1.0:0.0:0.0	.	90	Q9UHV2	SRTD1_HUMAN	M	90	ENSP00000350633:V90M	ENSP00000350633:V90M	V	-	1	0	SERTAD1	45621026	0.068000	0.21057	0.916000	0.36221	0.141000	0.21300	1.351000	0.34022	2.293000	0.77203	0.561000	0.74099	GTG		0.672	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		20	97	0	0	0	1	0	20	97					T	40929186	C	T	40929186	3	4	79	1	0	0	0	0	1	0	0	0	14170	478	17	2	446	2	SERTAD1	19	40929186	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24537	40929186	18199797	19232	29549											
SERTAD3	29946	broad.mit.edu	37	chr19	40947463	40947463	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcccaagaacctggggcacaGaagaggttgtgaggaggctc	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40947463G>T	ENST00000322354.3	-	2	1021	c.525C>A	c.(523-525)ttC>ttA	p.F175L	SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L|SERTAD3_ENST00000601217.1_5'Flank|CTC-492K19.4_ENST00000599050.1_RNA	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	175					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)			CTGGGGCACAGAAGAGGTTGT	0.527																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(523-525)ttC>ttA		SERTA domain containing 3							91	97	94					19																	40947463		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947463G>T	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.525C>A	19.37:g.40947463G>T	ENSP00000325414:p.Phe175Leu					SERTAD3_ENST00000392028.4_Missense_Mutation_p.F175L	p.F175L	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	1021	-			175					B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.525C>A	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533168	0.45073	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	6.0	3.9	0.45041	.	0.172395	0.39341	N	0.001382	T	0.28797	0.0714	N	0.08118	0	0.34746	D	0.731295	B	0.12013	0.005	B	0.08055	0.003	T	0.24154	-1.0168	9	0.22706	T	0.39	-14.1294	9.171	0.37081	0.1658:0.0:0.8342:0.0	.	175	Q9UJW9	SRTD3_HUMAN	L	175	.	ENSP00000325414:F175L	F	-	3	2	SERTAD3	45639303	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.376000	0.52417	0.885000	0.36088	0.655000	0.94253	TTC		0.527	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		96	557	1	0	3.21569e-47	1	3.95668e-47	96	557					T	40947463	G	T	40947463	3	4	79	1	0	0	0	0	1	0	0	0	14172	933	33	3	69	3	SERTAD3	19	40947463	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18277	40947463	18181520	19233	29550											
SPTBN4	57731	broad.mit.edu	37	chr19	40978533	40978533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcaccttccccgatggCgcaggtaccaggggaagtgg	15	13	1	0	rs139091351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40978533C>T	ENST00000352632.3	+	2	91	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2	Actin-binding.				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)			TCCCCGATGGCGCAGGTACCA	0.597																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(4-6)gCg>gTg		spectrin, beta, non-erythrocytic 4		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	48	35	40		5	5.9	1	19	dbSNP_134	40	0,8600		0,0,4300	no	missense	SPTBN4	NM_020971.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2/2565	40978533	1,13005	2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40978533C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5C>T	19.37:g.40978533C>T	ENSP00000263373:p.Ala2Val					SPTBN4_ENST00000598249.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A2V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A2V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A2V	p.A2V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	91	+			2			Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230017	0.39399	2.27E-4	0.0	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.80214	-1.35;-1.28;-1.32	5.91	5.91	0.95273	.	0.229203	0.25991	U	0.027010	D	0.82870	0.5131	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	D	0.84093	0.0391	10	0.59425	D	0.04	.	15.7986	0.78433	0.0:1.0:0.0:0.0	.	2;2	Q9H254;Q71S06	SPTN4_HUMAN;.	V	2	ENSP00000263373:A2V;ENSP00000340345:A2V;ENSP00000340741:A2V	ENSP00000340345:A2V	A	+	2	0	SPTBN4	45670373	0.997000	0.39634	1.000000	0.80357	0.175000	0.22909	3.673000	0.54591	2.793000	0.96121	0.655000	0.94253	GCG		0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			18	108	0	0	0	1	0	18	108					T	40978533	C	T	40978533	3	4	79	1	0	0	0	0	1	0	0	0	15173	768	27	1	7	1	SPTBN4	19	40978533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31070	40978533	18150450	19234	29551											
SPTBN4	57731	broad.mit.edu	37	chr19	41008410	41008410	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcatctgggatattgAcaaggtgaggccggggatgc	17	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41008410A>G	ENST00000352632.3	+	10	1285	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	400					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)			TGGGATATTGACAAGGTGAGG	0.562																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1198-1200)gAc>gGc		spectrin, beta, non-erythrocytic 4							57	61	60					19																	41008410		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41008410A>G	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.1199A>G	19.37:g.41008410A>G	ENSP00000263373:p.Asp400Gly					SPTBN4_ENST00000598249.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D400G|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D400G|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D400G	p.D400G			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		10	1285	+			400					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.1199A>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.746265	0.49257	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.68624	-0.34;-0.34;-0.34	3.54	3.54	0.40534	.	0.216512	0.30890	U	0.008677	T	0.61160	0.2325	L	0.34521	1.04	0.80722	D	1	P;P	0.46621	0.881;0.702	P;B	0.47864	0.559;0.283	T	0.65195	-0.6227	10	0.56958	D	0.05	.	12.0093	0.53278	1.0:0.0:0.0:0.0	.	400;400	Q9H254;Q71S06	SPTN4_HUMAN;.	G	400	ENSP00000263373:D400G;ENSP00000340345:D400G;ENSP00000340741:D400G	ENSP00000340345:D400G	D	+	2	0	SPTBN4	45700250	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.989000	0.93506	1.851000	0.53745	0.460000	0.39030	GAC		0.562	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			16	339	0	0	0	1	0	16	339					G	41008410	A	G	41008410	3	3	79	1	0	0	0	0	1	0	0	0	15173	275	10	4	1233	4	SPTBN4	19	41008410	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29877	41008410	18120573	19235	29552											
SPTBN4	57731	broad.mit.edu	37	chr19	41009865	41009865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccaggcattggcagcCgaaggctactacgatatccg	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41009865C>T	ENST00000352632.3	+	12	1577	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A|SPTBN4_ENST00000595535.1_Silent_p.A497A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	497					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)			CATTGGCAGCCGAAGGCTACT	0.662																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(1489-1491)gcC>gcT		spectrin, beta, non-erythrocytic 4							36	38	37					19																	41009865		2203	4300	6503	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41009865C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1491C>T	19.37:g.41009865C>T						SPTBN4_ENST00000598249.1_Silent_p.A497A|SPTBN4_ENST00000595535.1_Silent_p.A497A|SPTBN4_ENST00000338932.3_Silent_p.A497A|SPTBN4_ENST00000344104.3_Silent_p.A497A	p.A497A			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		12	1577	+			497					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.1491C>T	CCDS12559.1																																																																																				0.662	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			16	284	0	0	0	1	0	16	284					T	41009865	C	T	41009865	2	4	79	1	0	0	0	0	0	0	0	1	15173	639	23	1		1	SPTBN4	19	41009865	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1455	41009865	18119118	19236	29553											
SPTBN4	57731	broad.mit.edu	37	chr19	41019444	41019444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggattcactcgacgacgtCgaggtggtgcagcaccggtg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41019444C>T	ENST00000352632.3	+	14	2834	c.2748C>T	c.(2746-2748)gtC>gtT	p.V916V	SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000338932.3_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V|SPTBN4_ENST00000595535.1_Silent_p.V916V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	916					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)			TCGACGACGTCGAGGTGGTGC	0.602																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(2746-2748)gtC>gtT		spectrin, beta, non-erythrocytic 4							24	14	18					19																	41019444		2198	4296	6494	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41019444C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2748C>T	19.37:g.41019444C>T						SPTBN4_ENST00000598249.1_Silent_p.V916V|SPTBN4_ENST00000595535.1_Silent_p.V916V|SPTBN4_ENST00000338932.3_Silent_p.V916V|SPTBN4_ENST00000344104.3_Silent_p.V916V	p.V916V			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		14	2834	+			916					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.2748C>T	CCDS12559.1																																																																																				0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			7	72	0	0	0	1	0	7	72					T	41019444	C	T	41019444	2	4	79	1	0	0	0	0	0	0	0	1	15173	871	31	1		1	SPTBN4	19	41019444	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9579	41019444	18109539	19237	29554											
SPTBN4	57731	broad.mit.edu	37	chr19	41021217	41021217	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agcatctccatcctcctgcaGattcgagagcctggaccaag	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41021217G>T	ENST00000352632.3	+	15	2851		c.e15-1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						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)			TCCTCCTGCAGATTCGAGAGC	0.537																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.e15-1		spectrin, beta, non-erythrocytic 4							54	42	46					19																	41021217		2203	4300	6503	SO:0001630	splice_region_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41021217G>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2766-1G>T	19.37:g.41021217G>T						SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site				Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		15	2851	+								E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	37		CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918493	0.73098	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7914	0.78367	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN4	45713057	1.000000	0.71417	0.567000	0.28434	0.864000	0.49448	9.595000	0.98260	2.256000	0.74724	0.491000	0.48974	.		0.537	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Intron	5	89	1	0	0.014758	1	0.0148251	5	89					T	41021217	G	T	41021217	5	4	79	1	0	0	0	0	0	0	1	0	15173	956	33	3	2819	3	SPTBN4	19	41021217	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1773	41021217	18107766	19238	29555											
SPTBN4	57731	broad.mit.edu	37	chr19	41040188	41040188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttcacatggagagccagCtgcaagacgtggaccctgga	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41040188C>T	ENST00000352632.3	+	20	4383	c.4297C>T	c.(4297-4299)Ctg>Ttg	p.L1433L	SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000595535.1_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L|SPTBN4_ENST00000392023.1_Silent_p.L109L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1433					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)			GGAGAGCCAGCTGCAAGACGT	0.592																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(4297-4299)Ctg>Ttg		spectrin, beta, non-erythrocytic 4							46	41	43					19																	41040188		2203	4299	6502	SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41040188C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4297C>T	19.37:g.41040188C>T						SPTBN4_ENST00000392023.1_Silent_p.L109L|SPTBN4_ENST00000598249.1_Silent_p.L1433L|SPTBN4_ENST00000595535.1_Silent_p.L1433L|SPTBN4_ENST00000338932.3_Silent_p.L1433L|SPTBN4_ENST00000392025.1_Silent_p.L176L	p.L1433L			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		20	4383	+			1433					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.4297C>T	CCDS12559.1																																																																																				0.592	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	233	0	0	0	1	0	6	233					T	41040188	C	T	41040188	2	4	79	1	0	0	0	0	0	0	0	1	15173	796	28	2		2	SPTBN4	19	41040188	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18971	41040188	18088795	19239	29556											
SPTBN4	57731	broad.mit.edu	37	chr19	41062025	41062025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagtctcaggtggaccGcctgtacgtggcgctcaagg	16	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41062025G>A	ENST00000352632.3	+	25	5206	c.5120G>A	c.(5119-5121)cGc>cAc	p.R1707H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1707					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)			CAGGTGGACCGCCTGTACGTG	0.667																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5119-5121)cGc>cAc		spectrin, beta, non-erythrocytic 4							30	30	30					19																	41062025		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41062025G>A	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.5120G>A	19.37:g.41062025G>A	ENSP00000263373:p.Arg1707His					SPTBN4_ENST00000392023.1_Missense_Mutation_p.R383H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1707H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1707H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R450H	p.R1707H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	5206	+			1707					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5120G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509478	0.85282	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.29	4.29	0.51040	.	0.000000	0.64402	D	0.000004	T	0.64103	0.2568	L	0.54323	1.7	0.38876	D	0.956803	D;D;D;D	0.89917	1.0;0.971;1.0;1.0	D;P;D;D	0.91635	0.997;0.576;0.999;0.993	T	0.70346	-0.4897	10	0.87932	D	0	.	15.682	0.77376	0.0:0.0:1.0:0.0	.	450;383;1707;1707	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	H	1707;1707;1707;450;383	ENSP00000263373:R1707H;ENSP00000340345:R1707H;ENSP00000375879:R450H;ENSP00000375877:R383H	ENSP00000340345:R1707H	R	+	2	0	SPTBN4	45753865	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	1.861000	0.39438	2.209000	0.71365	0.555000	0.69702	CGC		0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			25	143	0	0	0	1	0	25	143					A	41062025	G	A	41062025	3	1	79	1	0	0	0	0	1	0	0	0	15173	1087	38	1	5214	1	SPTBN4	19	41062025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21837	41062025	18066958	19240	29557											
SPTBN4	57731	broad.mit.edu	37	chr19	41063119	41063119	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcatgggcacacgggCccagctgctggccgcctctc	14	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41063119C>A	ENST00000352632.3	+	26	5566	c.5480C>A	c.(5479-5481)gCc>gAc	p.A1827D	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1827					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)			GGCACACGGGCCCAGCTGCTG	0.647																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5479-5481)gCc>gAc		spectrin, beta, non-erythrocytic 4							25	28	27					19																	41063119		2203	4298	6501	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063119C>A	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.5480C>A	19.37:g.41063119C>A	ENSP00000263373:p.Ala1827Asp					SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827D|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570D	p.A1827D			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5566	+			1827					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5480C>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773259	0.69992	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	3.63	3.63	0.41609	.	0.090141	0.42172	D	0.000757	T	0.53769	0.1817	L	0.40543	1.245	0.38408	D	0.94585	D;D;D;P	0.71674	0.979;0.957;0.998;0.949	P;P;D;P	0.66497	0.815;0.693;0.944;0.83	T	0.49916	-0.8888	10	0.13470	T	0.59	.	14.5979	0.68419	0.0:1.0:0.0:0.0	.	570;503;1827;1827	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	D	1827;1827;1827;570;503	ENSP00000263373:A1827D;ENSP00000340345:A1827D;ENSP00000375879:A570D;ENSP00000375877:A503D	ENSP00000340345:A1827D	A	+	2	0	SPTBN4	45754959	0.002000	0.14202	0.999000	0.59377	0.989000	0.77384	1.157000	0.31724	2.036000	0.60181	0.455000	0.32223	GCC		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			60	214	1	0	4.96213e-28	1	5.76155e-28	60	214					A	41063119	C	A	41063119	3	1	79	1	0	0	0	0	1	0	0	0	15173	739	26	3	5578	3	SPTBN4	19	41063119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1094	41063119	18065864	19241	29558											
LTBP4	8425	broad.mit.edu	37	chr19	41119858	41119858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggaggacctttgccagaGcggcatctgtaccaacaccg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41119858G>A	ENST00000308370.7	+	21	2795	c.2795G>A	c.(2794-2796)aGc>aAc	p.S932N	LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	932	Cys-rich.|EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTTGCCAGAGCGGCATCTGT	0.682																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(2794-2796)aGc>aAc		latent transforming growth factor beta binding protein 4							36	42	40					19																	41119858		2066	4197	6263	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41119858G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2795G>A	19.37:g.41119858G>A	ENSP00000311905:p.Ser932Asn					LTBP4_ENST00000243562.9_Missense_Mutation_p.S30N|LTBP4_ENST00000204005.9_Missense_Mutation_p.S895N|LTBP4_ENST00000545697.1_Missense_Mutation_p.S385N|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.S865N	p.S932N	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		21	2795	+			932			Cys-rich.|EGF-like 11; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.2795G>A		.	.	.	.	.	.	.	.	.	.	G	13.71	2.319803	0.41096	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.95588	-2.93;-2.93;-2.93;-2.93;-3.75	4.61	3.58	0.41010	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.165873	0.29846	N	0.011060	D	0.84880	0.5570	N	0.02225	-0.63	0.80722	D	1	B;P;P;B;P	0.36837	0.0;0.571;0.51;0.259;0.51	B;B;B;B;B	0.38803	0.004;0.213;0.229;0.229;0.282	T	0.81342	-0.0976	10	0.12430	T	0.62	.	8.3198	0.32121	0.1852:0.0:0.8148:0.0	.	30;152;865;932;895	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	N	895;385;932;865;30	ENSP00000204005:S895N;ENSP00000441054:S385N;ENSP00000311905:S932N;ENSP00000380031:S865N;ENSP00000243562:S30N	ENSP00000204005:S895N	S	+	2	0	LTBP4	45811698	0.343000	0.24818	1.000000	0.80357	0.994000	0.84299	3.480000	0.53172	1.175000	0.42826	0.462000	0.41574	AGC		0.682	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		43	165	0	0	0	1	0	43	165					A	41119858	G	A	41119858	3	1	79	1	0	0	0	0	1	0	0	0	9114	971	34	2	3170	2	LTBP4	19	41119858	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56739	41119858	18009125	19242	29559											
LTBP4	8425	broad.mit.edu	37	chr19	41125325	41125325	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgtcgaaggctccttcctCtgtgtctgccccaacagccc	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41125325C>A	ENST00000308370.7	+	26	3342	c.3342C>A	c.(3340-3342)ctC>ctA	p.L1114L	LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000396819.3_Silent_p.L1047L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1115	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCTGTGTCTGCC	0.522																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3340-3342)ctC>ctA		latent transforming growth factor beta binding protein 4							115	116	116					19																	41125325		1989	4174	6163	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41125325C>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.3342C>A	19.37:g.41125325C>A						LTBP4_ENST00000243562.9_Silent_p.L168L|LTBP4_ENST00000204005.9_Silent_p.L1077L|LTBP4_ENST00000545697.1_Silent_p.L482L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.L1047L	p.L1114L	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	3342	+			1115			Cys-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.3342C>A																																																																																					0.522	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		53	366	1	0	1.21353e-23	1	1.38083e-23	53	366					A	41125325	C	A	41125325	2	1	79	1	0	0	0	0	0	0	0	1	9114	900	32	3		3	LTBP4	19	41125325	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5467	41125325	18003658	19243	29560											
LTBP4	8425	broad.mit.edu	37	chr19	41135381	41135381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacacggatggctccttcCgctgcatctgccgcccggga	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41135381C>T	ENST00000308370.7	+	34	4798	c.4798C>T	c.(4798-4800)Cgc>Tgc	p.R1600C	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1601	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCTCCTTCCGCTGCATCTG	0.706																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4798-4800)Cgc>Tgc		latent transforming growth factor beta binding protein 4							28	32	31					19																	41135381		2159	4258	6417	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41135381C>T	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4798C>T	19.37:g.41135381C>T	ENSP00000311905:p.Arg1600Cys					LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.R1563C|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1533C	p.R1600C	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	4798	+			1601			EGF-like 16.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4798C>T		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679465	0.68042	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.92545	-3.06;-3.06;-3.06	3.82	3.82	0.43975	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.35936	N	0.002889	D	0.95322	0.8482	.	.	.	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	0.78314	0.977;0.977;0.991;0.986;0.986	D	0.95356	0.8451	9	0.87932	D	0	.	11.0964	0.48147	0.0:0.8112:0.1888:0.0	.	361;613;1533;1601;1563	F5GYA5;Q8N2S1-4;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	C	1563;1600;1533;361	ENSP00000204005:R1563C;ENSP00000311905:R1600C;ENSP00000380031:R1533C	ENSP00000204005:R1563C	R	+	1	0	LTBP4	45827221	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.862000	0.27899	2.136000	0.66102	0.563000	0.77884	CGC		0.706	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		27	258	0	0	0	1	0	27	258					T	41135381	C	T	41135381	3	4	79	1	0	0	0	0	1	0	0	0	9114	652	23	1	5223	1	LTBP4	19	41135381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10056	41135381	17993602	19244	29561											
NUMBL	9253	broad.mit.edu	37	chr19	41173718	41173718	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcggtgggtagcccaagccCgggtaggcgggcacaaaagg	17	10	0	0	rs370985786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173718C>T	ENST00000252891.4	-	10	1652	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P	NUMBL_ENST00000540131.1_Silent_p.P454P|NUMBL_ENST00000598779.1_Silent_p.P454P	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	495					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)			AGCCCAAGCCCGGGTAGGCGG	0.687																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1483-1485)ccG>ccA		numb homolog (Drosophila)-like				0,4114		0,0,2057	6	6	6		1485	-8.6	0.2	19		6	9,8229		0,9,4110	no	coding-synonymous	NUMBL	NM_004756.3		0,9,6167	TT,TC,CC		0.1092,0.0,0.0729		495/610	41173718	9,12343	2057	4119	6176	SO:0001819	synonymous_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173718C>T	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.1485G>A	19.37:g.41173718C>T						NUMBL_ENST00000540131.1_Silent_p.P454P|NUMBL_ENST00000598779.1_Silent_p.P454P	p.P495P	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1652	-			495					Q7Z4J9	Silent	SNP	ENST00000252891.4	37	c.1485G>A	CCDS12561.1																																																																																				0.687	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		13	49	0	0	0	1	0	13	49					T	41173718	C	T	41173718	2	4	79	1	0	0	0	0	0	0	0	1	10794	639	23	1		1	NUMBL	19	41173718	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38337	41173718	17955265	19245	29562											
NUMBL	9253	broad.mit.edu	37	chr19	41173926	41173926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgctggGccttggccacctgtgacacc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173926G>A	ENST00000252891.4	-	10	1444	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	426					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)			ctgctgctgGGCCTTGGCCAC	0.662																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(1276-1278)gCc>gTc		numb homolog (Drosophila)-like							10	9	9					19																	41173926		2177	4257	6434	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41173926G>A	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.1277C>T	19.37:g.41173926G>A	ENSP00000252891:p.Ala426Val					NUMBL_ENST00000540131.1_Missense_Mutation_p.A385V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A385V	p.A426V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		10	1444	-			426					Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.1277C>T	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	g	15.02	2.709666	0.48517	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.32515	1.45;1.45	4.58	3.54	0.40534	.	0.132179	0.48767	N	0.000162	T	0.19644	0.0472	N	0.19112	0.55	0.35862	D	0.82753	P;P	0.47762	0.9;0.9	B;B	0.40741	0.339;0.339	T	0.18840	-1.0324	10	0.37606	T	0.19	-10.0826	11.6372	0.51211	0.0887:0.0:0.9113:0.0	.	426;426	A8K033;Q9Y6R0	.;NUMBL_HUMAN	V	426;385	ENSP00000252891:A426V;ENSP00000442759:A385V	ENSP00000252891:A426V	A	-	2	0	NUMBL	45865766	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	6.327000	0.72910	1.149000	0.42402	0.543000	0.68304	GCC		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		9	37	0	0	0	1	0	9	37					A	41173926	G	A	41173926	3	1	79	1	0	0	0	0	1	0	0	0	10794	1203	42	2	556	2	NUMBL	19	41173926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208	41173926	17955057	19246	29563											
NUMBL	9253	broad.mit.edu	37	chr19	41188694	41188694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccacaggacagacttcacgGactttcggcccatctggagg	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41188694G>A	ENST00000252891.4	-	5	505	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	113	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)			AGACTTCACGGACTTTCGGCC	0.652																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(337-339)tCc>tTc		numb homolog (Drosophila)-like							97	88	91					19																	41188694		2203	4300	6503	SO:0001583	missense	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41188694G>A	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.338C>T	19.37:g.41188694G>A	ENSP00000252891:p.Ser113Phe					NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F|NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F	p.S113F	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		5	505	-			113			PID.		Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	c.338C>T	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065526	0.76187	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.20069	2.1;2.1	4.77	4.77	0.60923	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.061068	0.64402	D	0.000003	T	0.25232	0.0613	N	0.11201	0.11	0.43347	D	0.995408	D;D	0.67145	0.996;0.996	P;P	0.59546	0.859;0.859	T	0.25293	-1.0136	10	0.72032	D	0.01	-30.3947	16.9155	0.86150	0.0:0.0:1.0:0.0	.	113;113	A8K033;Q9Y6R0	.;NUMBL_HUMAN	F	113;72	ENSP00000252891:S113F;ENSP00000442759:S72F	ENSP00000252891:S113F	S	-	2	0	NUMBL	45880534	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.147000	0.64851	2.346000	0.79739	0.585000	0.79938	TCC		0.652	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		14	315	0	0	0	1	0	14	315					A	41188694	G	A	41188694	3	1	79	1	0	0	0	0	1	0	0	0	10794	1174	41	2	1515	2	NUMBL	19	41188694	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14768	41188694	17940289	19247	29564											
ADCK4	79934	broad.mit.edu	37	chr19	41198107	41198107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcccctgccagcttgcGgtgcagggcataggtctcct	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41198107G>A	ENST00000324464.3	-	15	1769	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	NUMBL_ENST00000540131.1_5'Flank|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C|NUMBL_ENST00000252891.4_5'Flank|NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000598779.1_5'Flank|ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	490						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)			GCCAGCTTGCGGTGCAGGGCA	0.682																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(1468-1470)Cgc>Tgc		aarF domain containing kinase 4							27	27	27					19																	41198107		2197	4294	6491	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41198107G>A	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.1468C>T	19.37:g.41198107G>A	ENSP00000315118:p.Arg490Cys					ADCK4_ENST00000243583.6_Missense_Mutation_p.R449C|ADCK4_ENST00000450541.1_Missense_Mutation_p.R449C	p.R490C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		15	1769	-			490					Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.1468C>T	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872838	0.91587	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	D;D;D	0.86562	-2.14;-1.5;-1.5	5.43	3.31	0.37934	.	0.051479	0.85682	N	0.000000	D	0.94948	0.8366	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94152	0.7406	10	0.87932	D	0	-16.2832	9.2545	0.37575	0.0764:0.0:0.7776:0.146	.	490;449	Q96D53;Q96D53-2	ADCK4_HUMAN;.	C	490;449;449	ENSP00000315118:R490C;ENSP00000412839:R449C;ENSP00000243583:R449C	ENSP00000243583:R449C	R	-	1	0	ADCK4	45889947	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	0.675000	0.31264	0.561000	0.74099	CGC		0.682	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		18	57	0	0	0	1	0	18	57					A	41198107	G	A	41198107	3	1	79	1	0	0	0	0	1	0	0	0	290	1116	39	1	170	1	ADCK4	19	41198107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9413	41198107	17930876	19248	29565											
ADCK4	79934	broad.mit.edu	37	chr19	41201931	41201931	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaactctgtcccaaactccCggcttgcaccaaagtccagc	7	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41201931C>T	ENST00000324464.3	-	13	1473	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q|ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	391	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)			CCCAAACTCCCGGCTTGCACC	0.562																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(1171-1173)cGg>cAg		aarF domain containing kinase 4							145	134	138					19																	41201931		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41201931C>T	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.1172G>A	19.37:g.41201931C>T	ENSP00000315118:p.Arg391Gln					ADCK4_ENST00000243583.6_Missense_Mutation_p.R350Q|ADCK4_ENST00000450541.1_Missense_Mutation_p.R350Q	p.R391Q	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		13	1473	-			391			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.1172G>A	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404456	0.83230	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.68025	-0.3;-0.3;-0.3	4.78	3.75	0.43078	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.85630	2.765	0.53005	D	0.999967	D;P	0.60575	0.988;0.931	P;P	0.45195	0.473;0.468	T	0.77487	-0.2569	10	0.87932	D	0	-24.933	11.8167	0.52216	0.0:0.9133:0.0:0.0867	.	391;350	Q96D53;Q96D53-2	ADCK4_HUMAN;.	Q	391;350;350	ENSP00000315118:R391Q;ENSP00000412839:R350Q;ENSP00000243583:R350Q	ENSP00000243583:R350Q	R	-	2	0	ADCK4	45893771	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	5.595000	0.67563	1.245000	0.43885	0.561000	0.74099	CGG		0.562	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		120	644	0	0	0	1	0	120	644					T	41201931	C	T	41201931	3	4	79	1	0	0	0	0	1	0	0	0	290	652	23	1	474	1	ADCK4	19	41201931	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3824	41201931	17927052	19249	29566											
MIA	8190	broad.mit.edu	37	chr19	41281451	41281451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgctcacagtccacgatgGcccggtccctggtgtgcctt	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41281451G>A	ENST00000263369.3	+	1	170	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	RAB4B_ENST00000594800.1_5'Flank|MIA_ENST00000594436.1_Missense_Mutation_p.A2T|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.A2T|MIA_ENST00000597784.1_Missense_Mutation_p.A2T|RAB4B_ENST00000357052.2_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	2					cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		GTCCACGATGGCCCGGTCCCT	0.587																																						ENST00000600729.1																			0											c.(4-6)Gcc>Acc									176	157	163					19																	41281451		2203	4300	6503	SO:0001583	missense	0							g.chr19:41281451G>A	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.4G>A	19.37:g.41281451G>A	ENSP00000263369:p.Ala2Thr					MIA_ENST00000263369.3_Missense_Mutation_p.A2T|MIA_ENST00000594436.1_Missense_Mutation_p.A2T|MIA_ENST00000597784.1_Missense_Mutation_p.A2T	p.A2T							2	426	+								Q6FHV3	Missense_Mutation	SNP	ENST00000263369.3	37	c.4G>A	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	G	5.107	0.205446	0.09704	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.48201	0.82	4.17	0.864	0.19068	.	1.179790	0.06624	U	0.758034	T	0.37598	0.1009	L	0.47716	1.5	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.25328	-1.0135	10	0.21540	T	0.41	-12.7924	5.8375	0.18615	0.3372:0.0:0.6628:0.0	.	2	Q16674	MIA_HUMAN	T	2	ENSP00000263369:A2T	ENSP00000263369:A2T	A	+	1	0	RAB4B	45973291	0.991000	0.36638	0.466000	0.27168	0.299000	0.27559	1.848000	0.39309	0.509000	0.28195	0.561000	0.74099	GCC		0.587	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1			30	971	0	0	0	1	0	30	971					A	41281451	G	A	41281451	3	1	79	1	0	0	0	0	1	0	0	0	9604	1203	42	2	6	2	MIA	19	41281451	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79520	41281451	17847532	19250	29567											
RAB4B	53916	broad.mit.edu	37	chr19	41289706	41289706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgacgcggagttattaccGaggggcggctggagccctgc	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41289706G>A	ENST00000594800.1	+	4	396	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RAB4B_ENST00000602069.1_Intron|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.R79Q|RAB4B-EGLN2_ENST00000601949.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.R79Q			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	79					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTTATTACCGAGGGGCGGCT	0.667																																						ENST00000594136.1																			0											c.(235-237)cGa>cAa									20	23	22					19																	41289706		2203	4300	6503	SO:0001583	missense	0							g.chr19:41289706G>A	AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.236G>A	19.37:g.41289706G>A	ENSP00000470246:p.Arg79Gln					RAB4B_ENST00000357052.2_Missense_Mutation_p.R79Q|RAB4B_ENST00000594800.1_Missense_Mutation_p.R79Q|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_Intron|MIA-RAB4B_ENST00000600729.1_3'UTR	p.R79Q							4	341	+								P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	ENST00000594800.1	37	c.236G>A	CCDS33030.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380825	0.95945	.	.	ENSG00000167578	ENST00000357052;ENST00000378307	D;D	0.81821	-1.54;-1.54	4.79	4.79	0.61399	Small GTP-binding protein domain (1);	0.071260	0.53938	D	0.000059	D	0.91818	0.7411	M	0.93594	3.435	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	P;D	0.66847	0.897;0.947	D	0.94142	0.7398	10	0.87932	D	0	.	16.5844	0.84724	0.0:0.0:1.0:0.0	.	114;79	P61018-2;P61018	.;RAB4B_HUMAN	Q	79	ENSP00000349560:R79Q;ENSP00000367557:R79Q	ENSP00000349560:R79Q	R	+	2	0	RAB4B	45981546	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.388000	0.97237	2.195000	0.70347	0.436000	0.28706	CGA		0.667	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463168.1	NM_016154		37	160	0	0	0	1	0	37	160					A	41289706	G	A	41289706	3	1	79	1	0	0	0	0	1	0	0	0	12997	1058	37	1	250	1	RAB4B	19	41289706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8255	41289706	17839277	19251	29568											
EGLN2	112398	broad.mit.edu	37	chr19	41306816	41306816	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggcagcccagggcgcacgGcctgaggcccccaaacggaa	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41306816G>T	ENST00000593726.1	+	1	1367	c.339G>T	c.(337-339)cgG>cgT	p.R113R	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.R113R|EGLN2_ENST00000594140.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.R113R|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	113	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGGGCGCACGGCCTGAGGCCC	0.687																																						ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(337-339)cgG>cgT		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						14	14	14					19																	41306816		2193	4290	6483	SO:0001819	synonymous_variant	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|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|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41306816G>T	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.339G>T	19.37:g.41306816G>T						EGLN2_ENST00000303961.4_Silent_p.R113R|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.R113R	p.R113R			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	1367	+			113					A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	ENST00000593726.1	37	c.339G>T	CCDS12567.1																																																																																				0.687	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			11	93	1	0	3.86212e-05	1	3.93988e-05	11	93					T	41306816	G	T	41306816	2	4	79	1	0	0	0	0	0	0	0	1	4985	1190	42	3		3	EGLN2	19	41306816	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17110	41306816	17822167	19252	29569											
CYP2A7	1549	broad.mit.edu	37	chr19	41388043	41388043	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgctcttcctctgctGccagacagacatcaagacca	6	18	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41388043G>A	ENST00000301146.4	-	1	614	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	25						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(73-75)Cag>Tag		cytochrome P450, family 2, subfamily A, polypeptide 7							88	74	79					19																	41388043		2203	4300	6503	SO:0001587	stop_gained	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41388043G>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"Cytochrome P450s"	2611	protein-coding gene	gene with protein product		608054	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.73C>T	19.37:g.41388043G>A	ENSP00000301146:p.Gln25*					CYP2A7_ENST00000291764.3_Nonsense_Mutation_p.Q25*|CTC-490E21.12_ENST00000601627.1_Intron	p.Q25*	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	614	-			25					Q13121	Nonsense_Mutation	SNP	ENST00000301146.4	37	c.73C>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	36	5.970539	0.97156	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	.	.	.	2.24	-3.48	0.04739	.	1.246510	0.05976	U	0.643226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3712	0.11249	0.1619:0.0:0.3802:0.4578	.	.	.	.	X	25	.	ENSP00000291764:Q25X	Q	-	1	0	CYP2A7	46079883	0.000000	0.05858	0.002000	0.10522	0.198000	0.23893	-0.902000	0.04088	-0.457000	0.07033	0.184000	0.17185	CAG		0.572	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		50	227	0	0	0	1	0	50	227					A	41388043	G	A	41388043	4	1	79	1	0	0	0	0	0	1	0	0	4174	1328	46	2	1457	2	CYP2A7	19	41388043	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81227	41388043	17740940	19253	29570											
CYP2B6	1555	broad.mit.edu	37	chr19	41509926	41509926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgagagaaatatggggaCgtcttcacggtacacctggg	13	9	2	1	rs534437956	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509926C>T	ENST00000324071.4	+	2	199	c.192C>T	c.(190-192)gaC>gaT	p.D64D	CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Silent_p.D24D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	64					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)	AATATGGGGACGTCTTCACGG	0.532													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17296	0.0		0.0	False		,,,				2504	0.0					ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(190-192)gaC>gaT		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						49	49	49					19																	41509926		2203	4296	6499	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41509926C>T	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.192C>T	19.37:g.41509926C>T						CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Silent_p.D24D	p.D64D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	199	+			64					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.192C>T	CCDS12570.1																																																																																				0.532	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		56	313	0	0	0	1	0	56	313					T	41509926	C	T	41509926	2	4	79	1	0	0	0	0	0	0	0	1	4175	535	19	1		1	CYP2B6	19	41509926	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121883	41509926	17619057	19254	29571											
CYP2B6	1555	broad.mit.edu	37	chr19	41509980	41509980	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatgctgtgtggagtagaGgccatacgggaggcccttgt	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509980G>T	ENST00000324071.4	+	2	253	c.246G>T	c.(244-246)gaG>gaT	p.E82D	CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	82					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)	GTGGAGTAGAGGCCATACGGG	0.587																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(244-246)gaG>gaT		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						82	82	82					19																	41509980		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41509980G>T	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.246G>T	19.37:g.41509980G>T	ENSP00000324648:p.Glu82Asp					CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E6D|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E42D	p.E82D	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		2	253	+			82					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.246G>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	10.49	1.363878	0.24684	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.69175	4.95;-0.38	4.15	-8.3	0.01005	.	0.366856	0.28409	N	0.015458	T	0.28995	0.0720	N	0.04275	-0.24	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.22521	-1.0214	10	0.15066	T	0.55	.	5.2272	0.15401	0.0931:0.483:0.1419:0.282	.	42;82	B4DWP3;P20813	.;CP2B6_HUMAN	D	82;42	ENSP00000324648:E82D;ENSP00000330650:E42D	ENSP00000324648:E82D	E	+	3	2	CYP2B6	46201820	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	-2.960000	0.00673	-3.181000	0.00222	-0.777000	0.03380	GAG		0.587	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		99	486	1	0	4.98035e-58	1	6.24236e-58	99	486					T	41509980	G	T	41509980	3	4	79	1	0	0	0	0	1	0	0	0	4175	991	35	3	252	3	CYP2B6	19	41509980	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	41509980	17619003	19255	29572											
CYP2B6	1555	broad.mit.edu	37	chr19	41518231	41518231	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tacagggagattgaacaggtGattggcccacatcgccctcc	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41518231G>A	ENST00000324071.4	+	7	1000	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CYP2B6_ENST00000593831.1_Silent_p.V95V|CYP2B6_ENST00000330446.5_Silent_p.V131V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	331					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)	TTGAACAGGTGATTGGCCCAC	0.483																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(991-993)gtG>gtA		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						85	68	74					19																	41518231		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41518231G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.993G>A	19.37:g.41518231G>A						CYP2B6_ENST00000593831.1_Silent_p.V95V|CYP2B6_ENST00000330446.5_Silent_p.V131V	p.V331V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		7	1000	+			331					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.993G>A	CCDS12570.1																																																																																				0.483	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		53	180	0	0	0	1	0	53	180					A	41518231	G	A	41518231	2	1	79	1	0	0	0	0	0	0	0	1	4175	1277	45	2		2	CYP2B6	19	41518231	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8251	41518231	17610752	19256	29573											
CYP2A13	1553	broad.mit.edu	37	chr19	41594992	41594992	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcgactggctcttcaaaggCtatggtgagggggtgcccaa	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41594992C>A	ENST00000330436.3	+	2	339	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	113					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)	TCTTCAAAGGCTATGGTGAGG	0.632																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(337-339)ggC>ggA		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						44	42	43					19																	41594992		2203	4298	6501	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594992C>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.339C>A	19.37:g.41594992C>A							p.G113G	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			2	339	+			113					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.339C>A	CCDS12571.1																																																																																				0.632	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		56	269	1	0	4.17463e-26	1	4.80398e-26	56	269					A	41594992	C	A	41594992	2	1	79	1	0	0	0	0	0	0	0	1	4172	784	28	3		3	CYP2A13	19	41594992	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76761	41594992	17533991	19257	29574											
CYP2A13	1553	broad.mit.edu	37	chr19	41596450	41596450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaagcttccagttcaCggcaacctccacggggcagg	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41596450C>T	ENST00000330436.3	+	4	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	212					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)	TTCCAGTTCACGGCAACCTCC	0.572																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(634-636)aCg>aTg		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						117	103	108					19																	41596450		2203	4300	6503	SO:0001583	missense	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41596450C>T	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.635C>T	19.37:g.41596450C>T	ENSP00000332679:p.Thr212Met						p.T212M	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			4	635	+			212					Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	ENST00000330436.3	37	c.635C>T	CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	3.541	-0.093776	0.07053	.	.	ENSG00000197838	ENST00000330436	T	0.68331	-0.32	3.66	3.66	0.41972	.	1.565340	0.03511	U	0.219623	T	0.48352	0.1495	N	0.11870	0.19	0.09310	N	1	P	0.49307	0.922	B	0.39590	0.304	T	0.44802	-0.9304	10	0.18276	T	0.48	.	9.0369	0.36293	0.0:0.7731:0.2269:0.0	.	212	Q16696	CP2AD_HUMAN	M	212	ENSP00000332679:T212M	ENSP00000332679:T212M	T	+	2	0	CYP2A13	46288290	0.000000	0.05858	0.636000	0.29352	0.155000	0.21991	0.478000	0.22212	1.871000	0.54225	0.195000	0.17529	ACG		0.572	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		73	432	0	0	0	1	0	73	432					T	41596450	C	T	41596450	3	4	79	1	0	0	0	0	1	0	0	0	4172	536	19	1	649	1	CYP2A13	19	41596450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1458	41596450	17532533	19258	29575											
CYP2A13	1553	broad.mit.edu	37	chr19	41600274	41600274	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caaagatttggagacatgctCcccatgggtttggcccacag	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41600274C>T	ENST00000330436.3	+	7	1098	c.1098C>T	c.(1096-1098)ctC>ctT	p.L366L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	366					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)	GAGACATGCTCCCCATGGGTT	0.562																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.(1096-1098)ctC>ctT		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						125	113	117					19																	41600274		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41600274C>T	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.1098C>T	19.37:g.41600274C>T							p.L366L	NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			7	1098	+			366					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.1098C>T	CCDS12571.1																																																																																				0.562	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		7	426	0	0	0	1	0	7	426					T	41600274	C	T	41600274	2	4	79	1	0	0	0	0	0	0	0	1	4172	842	30	2		2	CYP2A13	19	41600274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3824	41600274	17528709	19259	29576											
CYP2A13	1553	broad.mit.edu	37	chr19	41601664	41601664	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgcctctcctcctcaGgaaagcggtactgttttgga	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41601664G>T	ENST00000330436.3	+	9	1303		c.e9-1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13						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)	CTCCTCCTCAGGAAAGCGGTA	0.577																																						ENST00000330436.3																			0				breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42						c.e9-1		cytochrome P450, family 2, subfamily A, polypeptide 13	Clomipramine(DB01242)|Nicotine(DB00184)						109	103	105					19																	41601664		2203	4300	6503	SO:0001630	splice_region_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41601664G>T	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.1304-1G>T	19.37:g.41601664G>T								NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN			9	1303	+								Q53YR8|Q6R569|Q6R570|Q9H2X2	Splice_Site	SNP	ENST00000330436.3	37		CCDS12571.1	.	.	.	.	.	.	.	.	.	.	.	19.48	3.835690	0.71373	.	.	ENSG00000197838	ENST00000330436	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7296	0.62779	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2A13	46293504	1.000000	0.71417	0.979000	0.43373	0.915000	0.54546	9.187000	0.94912	2.229000	0.72834	0.574000	0.79327	.		0.577	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	Intron	87	435	1	0	1.92282e-43	1	2.34754e-43	87	435					T	41601664	G	T	41601664	5	4	79	1	0	0	0	0	0	0	1	0	4172	1014	35	3	1337	3	CYP2A13	19	41601664	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1390	41601664	17527319	19260	29577											
CYP2F1	1572	broad.mit.edu	37	chr19	41626311	41626311	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacagttctctatccagattCtacggaatttcgggatgggg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41626311C>A	ENST00000331105.2	+	4	466	c.394C>A	c.(394-396)Cta>Ata	p.L132I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	132					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						TATCCAGATTCTACGGAATTT	0.547																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(394-396)Cta>Ata		cytochrome P450, family 2, subfamily F, polypeptide 1							111	108	109					19																	41626311		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41626311C>A	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.394C>A	19.37:g.41626311C>A	ENSP00000333534:p.Leu132Ile						p.L132I	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			4	466	+			132					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.394C>A	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515704	0.44763	.	.	ENSG00000197446	ENST00000331105	T	0.16073	2.37	4.25	4.25	0.50352	.	0.000000	0.64402	U	0.000003	T	0.42471	0.1204	M	0.86420	2.815	0.47374	D	0.999403	D;P	0.53619	0.961;0.897	D;P	0.64776	0.929;0.882	T	0.44982	-0.9292	10	0.87932	D	0	.	10.1017	0.42509	0.0:0.9003:0.0:0.0997	.	132;132	Q32MN5;P24903	.;CP2F1_HUMAN	I	132	ENSP00000333534:L132I	ENSP00000333534:L132I	L	+	1	2	CYP2F1	46318151	0.872000	0.30054	0.787000	0.31911	0.101000	0.19017	1.741000	0.38238	2.239000	0.73571	0.562000	0.76482	CTA		0.547	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			122	537	1	0	7.5252e-50	1	9.31431e-50	122	537					A	41626311	C	A	41626311	3	1	79	1	0	0	0	0	1	0	0	0	4182	912	32	3	404	3	CYP2F1	19	41626311	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24647	41626311	17502672	19261	29578											
CYP2F1	1572	broad.mit.edu	37	chr19	41633864	41633864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctttctgtacctcacCgccatcctgcagagcttttc	7	15	3	1	rs538039196	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					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						TGTACCTCACCGCCATCCTGC	0.647													c|||	3	0.000599042	0.0008	0.0	5008	,	,		16694	0.0		0.001	False		,,,				2504	0.001					ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(1351-1353)acC>acT		cytochrome P450, family 2, subfamily F, polypeptide 1							15	17	16					19																	41633864		2198	4286	6484	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41633864C>T	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.1353C>T	19.37:g.41633864C>T							p.T451T	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			10	1425	+			451					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1353C>T	CCDS12572.1																																																																																				0.647	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			7	181	0	0	0	1	0	7	181					T	41633864	C	T	41633864	2	4	79	1	0	0	0	0	0	0	0	1	4182	639	23	1		1	CYP2F1	19	41633864	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7553	41633864	17495119	19262	29579											
CYP2S1	29785	broad.mit.edu	37	chr19	41704369	41704369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccccattccccccaggaCgcccattcgatccctccctg	6	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704369C>T	ENST00000310054.4	+	4	712	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	166					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCCAGGACGCCCATTCGA	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(496-498)Cgc>Tgc		cytochrome P450, family 2, subfamily S, polypeptide 1							118	113	114					19																	41704369		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704369C>T	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.496C>T	19.37:g.41704369C>T	ENSP00000308032:p.Arg166Cys					CYP2S1_ENST00000542619.1_Intron	p.R166C	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	712	+			166					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.496C>T	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	c	13.35	2.210337	0.39003	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.69175	-0.38	5.14	-0.331	0.12679	.	2.019370	0.02308	N	0.071858	T	0.72795	0.3505	M	0.82056	2.57	0.09310	N	1	D	0.57571	0.98	P	0.48227	0.571	T	0.58719	-0.7587	10	0.66056	D	0.02	.	6.1916	0.20528	0.2612:0.568:0.0:0.1708	.	166	Q96SQ9	CP2S1_HUMAN	C	166	ENSP00000308032:R166C	ENSP00000301173:R166C	R	+	1	0	CYP2S1	46396209	0.000000	0.05858	0.095000	0.20976	0.397000	0.30659	-0.565000	0.05929	0.158000	0.19367	0.306000	0.20318	CGC		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			130	678	0	0	0	1	0	130	678					T	41704369	C	T	41704369	3	4	79	1	0	0	0	0	1	0	0	0	4185	536	19	1	510	1	CYP2S1	19	41704369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70505	41704369	17424614	19263	29580											
CYP2S1	29785	broad.mit.edu	37	chr19	41704625	41704625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccacagacctacgagatGttctcctggttcctgcggcc	9	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704625G>A	ENST00000310054.4	+	5	882	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	222					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTACGAGATGTTCTCCTGGT	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(664-666)atG>atA		cytochrome P450, family 2, subfamily S, polypeptide 1							92	79	83					19																	41704625		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704625G>A	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.666G>A	19.37:g.41704625G>A	ENSP00000308032:p.Met222Ile					CYP2S1_ENST00000542619.1_Intron	p.M222I	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			5	882	+			222					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.666G>A	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	11.61	1.689696	0.29962	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.01240	5.12	5.19	5.19	0.71726	.	0.210189	0.41001	U	0.000962	T	0.01254	0.0041	N	0.25647	0.755	0.80722	D	1	B	0.29909	0.261	B	0.26517	0.07	T	0.65919	-0.6051	10	0.17369	T	0.5	.	9.7964	0.40737	0.0946:0.0:0.9054:0.0	.	222	Q96SQ9	CP2S1_HUMAN	I	222	ENSP00000308032:M222I	ENSP00000301173:M222I	M	+	3	0	CYP2S1	46396465	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	1.774000	0.38573	2.419000	0.82065	0.461000	0.40582	ATG		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			28	614	0	0	0	1	0	28	614					A	41704625	G	A	41704625	3	1	79	1	0	0	0	0	1	0	0	0	4185	1377	48	2	684	2	CYP2S1	19	41704625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	41704625	17424358	19264	29581											
AXL	558	broad.mit.edu	37	chr19	41726619	41726619	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggactcacgggcacccttcGgtgtcagctccaggttcagg	14	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726619G>A	ENST00000301178.4	+	2	354	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Missense_Mutation_p.R55Q	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	55	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGCACCCTTCGGTGTCAGCTC	0.637																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(163-165)cGg>cAg		AXL receptor tyrosine kinase							39	39	39					19																	41726619		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726619G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.164G>A	19.37:g.41726619G>A	ENSP00000301178:p.Arg55Gln					AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.R55Q	p.R55Q	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			2	354	+			55			Ig-like C2-type 1.|Interaction with GAS6.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.164G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026763	0.35797	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.64991	-0.13;-0.13	4.47	0.619	0.17630	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547984	0.15876	N	0.240296	T	0.46444	0.1393	L	0.38531	1.155	0.29834	N	0.829806	B;B	0.19445	0.029;0.036	B;B	0.08055	0.002;0.003	T	0.39603	-0.9606	10	0.49607	T	0.09	-7.5574	6.9495	0.24538	0.3347:0.0:0.6653:0.0	.	55;55	P30530-2;P30530	.;UFO_HUMAN	Q	55	ENSP00000301178:R55Q;ENSP00000351995:R55Q	ENSP00000301178:R55Q	R	+	2	0	AXL	46418459	0.308000	0.24509	0.993000	0.49108	0.743000	0.42351	0.693000	0.25497	0.063000	0.16370	0.175000	0.17021	CGG		0.637	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			32	96	0	0	0	1	0	32	96					A	41726619	G	A	41726619	3	1	79	1	0	0	0	0	1	0	0	0	1239	1116	39	1	170	1	AXL	19	41726619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21994	41726619	17402364	19265	29582											
AXL	558	broad.mit.edu	37	chr19	41726632	41726632	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acccttcggtgtcagctccaGgttcagggagagccccccga	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726632G>T	ENST00000301178.4	+	2	367	c.177G>T	c.(175-177)caG>caT	p.Q59H	AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Missense_Mutation_p.Q59H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	59	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCAGCTCCAGGTTCAGGGAG	0.642																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(175-177)caG>caT		AXL receptor tyrosine kinase							44	43	44					19																	41726632		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726632G>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.177G>T	19.37:g.41726632G>T	ENSP00000301178:p.Gln59His					AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.Q59H	p.Q59H	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			2	367	+			59			Ig-like C2-type 1.|Interaction with GAS6.		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.177G>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931823	0.34096	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.65178	-0.14;-0.14	4.59	1.04	0.20106	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.718192	0.12273	N	0.483641	T	0.48095	0.1481	L	0.49455	1.56	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.44128	-0.9348	10	0.49607	T	0.09	-1.9767	0.835	0.01138	0.2185:0.187:0.4017:0.1928	.	59;59	P30530-2;P30530	.;UFO_HUMAN	H	59	ENSP00000301178:Q59H;ENSP00000351995:Q59H	ENSP00000301178:Q59H	Q	+	3	2	AXL	46418472	0.998000	0.40836	0.959000	0.39883	0.795000	0.44927	1.722000	0.38042	0.544000	0.28883	0.386000	0.25728	CAG		0.642	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			27	125	1	0	4.59853e-10	1	4.86106e-10	27	125					T	41726632	G	T	41726632	3	4	79	1	0	0	0	0	1	0	0	0	1239	991	35	3	183	3	AXL	19	41726632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13	41726632	17402351	19266	29583											
AXL	558	broad.mit.edu	37	chr19	41748838	41748838	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggccctggtggtatgtactgCtaggagcagtcgtggccgct	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41748838C>A	ENST00000301178.4	+	11	1553	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	AXL_ENST00000593513.1_Missense_Mutation_p.L187I|AXL_ENST00000359092.3_Missense_Mutation_p.L446I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	455					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTATGTACTGCTAGGAGCAGT	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(1363-1365)Cta>Ata		AXL receptor tyrosine kinase							147	116	126					19																	41748838		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41748838C>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1363C>A	19.37:g.41748838C>A	ENSP00000301178:p.Leu455Ile					AXL_ENST00000593513.1_Missense_Mutation_p.L187I|AXL_ENST00000359092.3_Missense_Mutation_p.L446I	p.L455I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			11	1553	+			455					Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.1363C>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	c	13.59	2.283015	0.40394	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75154	-0.91;-0.83	4.49	3.45	0.39498	.	0.074392	0.56097	D	0.000040	T	0.62183	0.2407	L	0.55990	1.75	0.35301	D	0.783036	P;P	0.38395	0.629;0.495	B;B	0.32805	0.153;0.073	T	0.65084	-0.6254	10	0.25751	T	0.34	-12.7963	7.5165	0.27604	0.1645:0.7444:0.0:0.0912	.	446;455	P30530-2;P30530	.;UFO_HUMAN	I	455;446	ENSP00000301178:L455I;ENSP00000351995:L446I	ENSP00000301178:L455I	L	+	1	2	AXL	46440678	0.995000	0.38212	1.000000	0.80357	0.884000	0.51177	1.972000	0.40540	0.995000	0.38917	0.650000	0.86243	CTA		0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			97	399	1	0	6.42612e-47	1	7.90343e-47	97	399					A	41748838	C	A	41748838	3	1	79	1	0	0	0	0	1	0	0	0	1239	796	28	3	1405	3	AXL	19	41748838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22206	41748838	17380145	19267	29584											
AXL	558	broad.mit.edu	37	chr19	41765518	41765518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggccaagttttacagaGctgcgggaagatttggagaa	14	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41765518G>A	ENST00000301178.4	+	20	2584	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	HNRNPUL1_ENST00000352456.3_5'Flank|HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000593513.1_Silent_p.E530E|AXL_ENST00000359092.3_Silent_p.E789E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTTTTACAGAGCTGCGGGAAG	0.552																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(2392-2394)gaG>gaA		AXL receptor tyrosine kinase							68	72	71					19																	41765518		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41765518G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2394G>A	19.37:g.41765518G>A						AXL_ENST00000593513.1_Silent_p.E530E|AXL_ENST00000359092.3_Silent_p.E789E	p.E798E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			20	2584	+			798			Protein kinase.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.2394G>A	CCDS12575.1																																																																																				0.552	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			51	237	0	0	0	1	0	51	237					A	41765518	G	A	41765518	2	1	79	1	0	0	0	0	0	0	0	1	1239	962	34	2		2	AXL	19	41765518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16680	41765518	17363465	19268	29585											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41807498	41807498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccatttgaaggcttccagCgcaaagctattgtaatttgt	9	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41807498C>T	ENST00000392006.3	+	11	1749	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	526	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGCTTCCAGCGCAAAGCTAT	0.458																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1576-1578)Cgc>Tgc		heterogeneous nuclear ribonucleoprotein U-like 1							149	133	138					19																	41807498		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41807498C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1576C>T	19.37:g.41807498C>T	ENSP00000375863:p.Arg526Cys					HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R426C|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R412C|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R526C|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R437C|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R426C	p.R526C	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			11	1749	+			526			Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1576C>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969155	0.92855	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.06	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.985;0.995;1.0;0.989;0.995;0.994	T	0.74383	-0.3683	10	0.87932	D	0	-15.4825	15.8696	0.79101	0.1364:0.8636:0.0:0.0	.	437;426;526;412;526;426	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	C	426;526;412;437	ENSP00000340857:R426C;ENSP00000375863:R526C;ENSP00000367460:R412C;ENSP00000263367:R437C	ENSP00000263367:R437C	R	+	1	0	HNRNPUL1	46499338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.025000	0.70864	1.547000	0.49401	0.650000	0.86243	CGC		0.458	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		135	488	0	0	0	1	0	135	488					T	41807498	C	T	41807498	3	4	79	1	0	0	0	0	1	0	0	0	7304	768	27	1	1618	1	HNRNPUL1	19	41807498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41980	41807498	17321485	19269	29586											
TGFB1	7040	broad.mit.edu	37	chr19	41854288	41854288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacacgggttcaggtaccGcttctcggagctctgatgtg	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41854288G>A	ENST00000221930.5	-	2	1294	c.428C>T	c.(427-429)gCg>gTg	p.A143V	TMEM91_ENST00000539627.1_5'Flank	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	143	Arm domain. {ECO:0000250}.				active induction of host immune response by virus (GO:0046732)|adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002460)|aging (GO:0007568)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|branch elongation involved in mammary gland duct branching (GO:0060751)|cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|cellular calcium ion homeostasis (GO:0006874)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation (GO:0002062)|common-partner SMAD protein phosphorylation (GO:0007182)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|defense response to fungus, incompatible interaction (GO:0009817)|digestive tract development (GO:0048565)|embryo development (GO:0009790)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|evasion or tolerance of host defenses by virus (GO:0019049)|extracellular matrix assembly (GO:0085029)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|germ cell migration (GO:0008354)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymph node development (GO:0048535)|macrophage derived foam cell differentiation (GO:0010742)|mammary gland branching involved in thelarche (GO:0060744)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|modulation by virus of host morphology or physiology (GO:0019048)|mononuclear cell proliferation (GO:0032943)|myelination (GO:0042552)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA replication (GO:0008156)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of ossification (GO:0030279)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|ossification involved in bone remodeling (GO:0043932)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|phosphate-containing compound metabolic process (GO:0006796)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NAD+ ADP-ribosyltransferase activity (GO:1901666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of odontogenesis (GO:0042482)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of superoxide anion generation (GO:0032930)|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 vascular endothelial growth factor production (GO:0010575)|protein export from nucleus (GO:0006611)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|receptor catabolic process (GO:0032801)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of binding (GO:0051098)|regulation of blood vessel remodeling (GO:0060312)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of cartilage development (GO:0061035)|regulation of cell migration (GO:0030334)|regulation of DNA binding (GO:0051101)|regulation of miRNA metabolic process (GO:2000628)|regulation of protein import into nucleus (GO:0042306)|regulation of sodium ion transport (GO:0002028)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulatory T cell differentiation (GO:0045066)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|response to radiation (GO:0009314)|response to vitamin D (GO:0033280)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|T cell homeostasis (GO:0043029)|tolerance induction to self antigen (GO:0002513)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|viral life cycle (GO:0019058)	axon (GO:0030424)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	antigen binding (GO:0003823)|cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTCAGGTACCGCTTCTCGGAG	0.507																																						ENST00000221930.5																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(427-429)gCg>gTg		transforming growth factor, beta 1	Hyaluronidase(DB00070)						133	125	128					19																	41854288		2203	4300	6503	SO:0001583	missense	7040				active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	g.chr19:41854288G>A	X02812	CCDS33031.1	19q13.1	2014-01-30	2007-02-16			ENSG00000105329		"Endogenous ligands"	11766	protein-coding gene	gene with protein product	"Camurati-Engelmann disease", "prepro-transforming growth factor beta-1"	190180		TGFB, DPD1		10631145, 10843814	Standard	NM_000660		Approved	CED, TGFbeta	uc002oqh.2	P01137		ENST00000221930.5:c.428C>T	19.37:g.41854288G>A	ENSP00000221930:p.Ala143Val						p.A143V	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN			2	1294	-			143					A8K792|Q9UCG4	Missense_Mutation	SNP	ENST00000221930.5	37	c.428C>T	CCDS33031.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608131	0.28623	.	.	ENSG00000105329	ENST00000221930	T	0.72394	-0.65	4.84	4.84	0.62591	Transforming growth factor-beta, N-terminal (1);	0.165870	0.53938	D	0.000058	T	0.50820	0.1638	L	0.41710	1.295	0.39365	D	0.965985	D	0.53151	0.958	B	0.27796	0.083	T	0.56691	-0.7937	10	0.15952	T	0.53	-15.2657	13.313	0.60390	0.0:0.0:1.0:0.0	.	143	P01137	TGFB1_HUMAN	V	143	ENSP00000221930:A143V	ENSP00000221930:A143V	A	-	2	0	TGFB1	46546128	0.929000	0.31497	0.953000	0.39169	0.286000	0.27126	1.795000	0.38784	2.513000	0.84729	0.455000	0.32223	GCG		0.507	TGFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463500.2			159	629	0	0	0	1	0	159	629					A	41854288	G	A	41854288	3	1	79	1	0	0	0	0	1	0	0	0	15868	1087	38	1	768	1	TGFB1	19	41854288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46790	41854288	17274695	19270	29587											
B9D2	80776	broad.mit.edu	37	chr19	41860620	41860620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccctcagcactccacgccGtagcggtcgaagttgcggag	13	14	1	0	rs143680317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41860620G>A	ENST00000243578.3	-	4	732	c.513C>T	c.(511-513)taC>taT	p.Y171Y	TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000539627.1_Intron|TGFB1_ENST00000221930.5_5'Flank	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	171					cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						ACTCCACGCCGTAGCGGTCGA	0.637													g|||	5	0.000998403	0.0008	0.0	5008	,	,		17417	0.004		0.0	False		,,,				2504	0.0					ENST00000243578.3																			0				large_intestine(1)|ovary(1)	2						c.(511-513)taC>taT		B9 protein domain 2				1,4405	2.1+/-5.4	0,1,2202	85	69	74		513	-7.2	0	19	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	B9D2	NM_030578.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		171/176	41860620	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80776				cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding	g.chr19:41860620G>A	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.513C>T	19.37:g.41860620G>A						TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	p.Y171Y	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN			4	732	-			171						Silent	SNP	ENST00000243578.3	37	c.513C>T	CCDS12579.1																																																																																				0.637	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463489.1	NM_030578		41	250	0	0	0	1	0	41	250					A	41860620	G	A	41860620	2	1	79	1	0	0	0	0	0	0	0	1	1279	1140	40	1		1	B9D2	19	41860620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6332	41860620	17268363	19271	29588											
TMEM91	641649	broad.mit.edu	37	chr19	41884213	41884213	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggagtttccccaaagCcatggacagccctagtcttc	8	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41884213C>T	ENST00000392002.2	+	0	659				TMEM91_ENST00000604123.1_Missense_Mutation_p.A57V|CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_5'Flank|TMEM91_ENST00000539627.1_5'UTR|TMEM91_ENST00000447302.2_5'UTR|TMEM91_ENST00000413014.2_5'UTR|TMEM91_ENST00000544232.1_5'UTR|TMEM91_ENST00000356385.4_5'UTR|TMEM91_ENST00000436170.2_5'UTR|TMEM91_ENST00000542945.1_5'UTR|CTC-435M10.3_ENST00000540732.1_5'UTR	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91						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						TTCCCCAAAGCCATGGACAGC	0.547																																						ENST00000604123.1																			0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(169-171)gCc>gTc		transmembrane protein 91							64	63	63					19																	41884213		1871	4107	5978	SO:0001623	5_prime_UTR_variant	641649							g.chr19:41884213C>T	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.-2C>T	19.37:g.41884213C>T						TMEM91_ENST00000542945.1_5'UTR|TMEM91_ENST00000436170.2_5'UTR|TMEM91_ENST00000539627.1_5'UTR|TMEM91_ENST00000356385.4_5'UTR|CTC-435M10.3_ENST00000540732.1_5'UTR|TMEM91_ENST00000392002.2_5'UTR|TMEM91_ENST00000544232.1_5'UTR|TMEM91_ENST00000447302.2_5'UTR|TMEM91_ENST00000413014.2_5'UTR	p.A57V							2	175	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.170C>T	CCDS42571.1																																																																																				0.547	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			73	420	0	0	0	1	0	73	420					T	41884213	C	T	41884213	1	4	79	0	1	0	0	0	0	0	0	0	16272	754	26	2		2	TMEM91	19	41884213	5'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23593	41884213	17244770	19272	29589											
EXOSC5	56915	broad.mit.edu	37	chr19	41892608	41892608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgttgcgaagcggcctggGccgcagccaggcactgctgg	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41892608G>A	ENST00000221233.4	-	6	788	c.638C>T	c.(637-639)gCc>gTc	p.A213V	CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	213					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						AGCGGCCTGGGCCGCAGCCAG	0.652																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(637-639)gCc>gTc		exosome component 5							26	24	25					19																	41892608		2199	4299	6498	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41892608G>A	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.638C>T	19.37:g.41892608G>A	ENSP00000221233:p.Ala213Val					EXOSC5_ENST00000596905.1_Missense_Mutation_p.A175V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A213V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			6	788	-			213					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.638C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677115	0.88445	.	.	ENSG00000077348	ENST00000221233	T	0.62788	0.0	5.08	5.08	0.68730	Exoribonuclease, phosphorolytic domain 2 (2);	0.106321	0.64402	D	0.000005	T	0.76673	0.4020	M	0.76328	2.33	0.47778	D	0.999518	D	0.76494	0.999	P	0.62740	0.906	T	0.77755	-0.2469	10	0.49607	T	0.09	-27.7716	16.008	0.80377	0.0:0.0:1.0:0.0	.	213	Q9NQT4	EXOS5_HUMAN	V	213	ENSP00000221233:A213V	ENSP00000221233:A213V	A	-	2	0	EXOSC5	46584448	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	4.673000	0.61604	2.623000	0.88846	0.655000	0.94253	GCC		0.652	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		5	55	0	0	0	1	0	5	55					A	41892608	G	A	41892608	3	1	79	1	0	0	0	0	1	0	0	0	5336	1203	42	2	73	2	EXOSC5	19	41892608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8395	41892608	17236375	19273	29590											
CEACAM21	90273	broad.mit.edu	37	chr19	42083774	42083774	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactccagggcctgcatacaGcggtcgagagacaatatcac	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42083774G>T	ENST00000401445.2	+	2	313	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S96I|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	96						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTGCATACAGCGGTCGAGAG	0.493																																						ENST00000187608.9																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						c.(286-288)aGc>aTc		carcinoembryonic antigen-related cell adhesion molecule 21							103	107	106					19																	42083774		2181	4293	6474	SO:0001583	missense	90273					integral to membrane		g.chr19:42083774G>T	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.287G>T	19.37:g.42083774G>T	ENSP00000385739:p.Ser96Ile					CEACAM21_ENST00000401445.2_Missense_Mutation_p.S96I|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR	p.S96I	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021.2	Q3KPI0	CEA21_HUMAN			2	327	+			96					B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.287G>T	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936009	0.34189	.	.	ENSG00000007129	ENST00000187608;ENST00000401445	T;T	0.69806	-0.43;-0.43	1.84	-0.702	0.11265	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83478	0.5263	H	0.96889	3.9	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	D;D	0.76575	0.979;0.988	T	0.69562	-0.5112	9	0.87932	D	0	.	3.1705	0.06550	0.1868:0.2804:0.5328:0.0	.	96;96	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	I	96	ENSP00000187608:S96I;ENSP00000385739:S96I	ENSP00000187608:S96I	S	+	2	0	CEACAM21	46775614	0.000000	0.05858	0.000000	0.03702	0.551000	0.35334	-0.462000	0.06704	-0.054000	0.13266	0.123000	0.15791	AGC		0.493	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		42	257	1	0	4.01765e-15	1	4.38033e-15	42	257					T	42083774	G	T	42083774	3	4	79	1	0	0	0	0	1	0	0	0	3201	971	34	3	293	3	CEACAM21	19	42083774	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191166	42083774	17045209	19274	29591											
CEACAM4	1089	broad.mit.edu	37	chr19	42132106	42132106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggggtatactgtctctCgaccactgtatgcggcccct	10	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42132106C>T	ENST00000221954.2	-	2	403	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	98	Ig-like V-type.					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						TACTGTCTCTCGACCACTGTA	0.493																																						ENST00000221954.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(292-294)cGa>cAa		carcinoembryonic antigen-related cell adhesion molecule 4							182	168	173					19																	42132106		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132106C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"Immunoglobulin superfamily / V-set domain containing"	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.293G>A	19.37:g.42132106C>T	ENSP00000221954:p.Arg98Gln					CEACAM4_ENST00000600925.1_Missense_Mutation_p.R98Q	p.R98Q	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	403	-			98			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.293G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647691	0.47258	.	.	ENSG00000105352	ENST00000221954	T	0.72282	-0.64	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84506	0.5487	M	0.90870	3.155	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.968	T	0.70339	-0.4899	9	0.72032	D	0.01	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	98;98	E7EMX3;O75871	.;CEAM4_HUMAN	Q	98	ENSP00000221954:R98Q	ENSP00000221954:R98Q	R	-	2	0	CEACAM4	46823946	0.000000	0.05858	0.005000	0.12908	0.041000	0.13682	0.162000	0.16501	1.281000	0.44480	0.205000	0.17691	CGA		0.493	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		166	749	0	0	0	1	0	166	749					T	42132106	C	T	42132106	3	4	79	1	0	0	0	0	1	0	0	0	3203	884	31	1	465	1	CEACAM4	19	42132106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48332	42132106	16996877	19275	29592											
CEACAM7	1087	broad.mit.edu	37	chr19	42192088	42192088	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtatggacaggctgaaggggAccccatggtctctgctgcct	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42192088A>G	ENST00000006724.3	-	1	208	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P|CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	3						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GCTGAAGGGGACCCCATGGTC	0.607																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(7-9)Tcc>Ccc		carcinoembryonic antigen-related cell adhesion molecule 7							81	67	72					19																	42192088		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42192088A>G	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.7T>C	19.37:g.42192088A>G	ENSP00000006724:p.Ser3Pro					CEACAM7_ENST00000401731.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000602225.1_Missense_Mutation_p.S3P|CEACAM7_ENST00000338196.4_Missense_Mutation_p.S3P|CEACAM7_ENST00000599715.1_Intron	p.S3P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	1	208	-			3					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.7T>C	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	0.006	-2.095813	0.00364	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.13538	2.58;2.58;5.32	1.67	0.317	0.15861	.	.	.	.	.	T	0.02767	0.0083	N	0.00765	-1.205	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.44065	-0.9352	9	0.02654	T	1	.	4.1531	0.10247	0.2321:0.0:0.7679:0.0	.	3;3	Q14002-2;Q14002	.;CEAM7_HUMAN	P	3	ENSP00000006724:S3P;ENSP00000385932:S3P;ENSP00000343286:S3P	ENSP00000006724:S3P	S	-	1	0	CEACAM7	46883928	0.000000	0.05858	0.257000	0.24404	0.035000	0.12851	-1.106000	0.03319	0.234000	0.21139	-0.756000	0.03474	TCC		0.607	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		48	228	0	0	0	1	0	48	228					G	42192088	A	G	42192088	3	3	79	1	0	0	0	0	1	0	0	0	3206	275	10	4	806	4	CEACAM7	19	42192088	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59982	42192088	16936895	19276	29593											
CEACAM5	1048	broad.mit.edu	37	chr19	42219576	42219576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgctccagatggcccGgatgcccccaccatttcccc	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42219576G>A	ENST00000221992.6	+	4	825	c.711G>A	c.(709-711)ccG>ccA	p.P237P	CEACAM5_ENST00000398599.4_Silent_p.P237P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P237P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	237	Ig-like 2.				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)		CAGATGGCCCGGATGCCCCCA	0.507																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(709-711)ccG>ccA		carcinoembryonic antigen-related cell adhesion molecule 5							68	70	69					19																	42219576		2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42219576G>A	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.711G>A	19.37:g.42219576G>A						CEACAM5_ENST00000405816.1_Silent_p.P237P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.P237P	p.P237P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	4	825	+			237			Ig-like 2.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.711G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	-	0.155	-1.087253	0.01873	.	.	ENSG00000105388	ENST00000398599	.	.	.	3.18	-0.947	0.10382	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	2.7144	0.05183	0.2758:0.0:0.5037:0.2205	.	.	.	.	R	234	.	.	G	+	1	0	CEACAM5	46911416	0.000000	0.05858	0.695000	0.30226	0.048000	0.14542	-2.052000	0.01401	0.046000	0.15833	-0.680000	0.03767	GGA		0.507	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		69	296	0	0	0	1	0	69	296					A	42219576	G	A	42219576	2	1	79	1	0	0	0	0	0	0	0	1	3204	1103	39	1		1	CEACAM5	19	42219576	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27488	42219576	16909407	19277	29594											
CEACAM5	1048	broad.mit.edu	37	chr19	42222194	42222194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaacacacacaagagcTctttatctccaacatcactg	4	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42222194T>A	ENST00000221992.6	+	6	1499	c.1385T>A	c.(1384-1386)cTc>cAc	p.L462H	CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	462	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACAAGAGCTCTTTATCTCC	0.517																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1384-1386)cTc>cAc		carcinoembryonic antigen-related cell adhesion molecule 5							128	103	111					19																	42222194		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42222194T>A	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.1385T>A	19.37:g.42222194T>A	ENSP00000221992:p.Leu462His					CEACAM5_ENST00000405816.1_Missense_Mutation_p.L462H|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.L461H	p.L462H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	6	1499	+			462			Ig-like 5.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1385T>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.367673	0.42003	.	.	ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181	D;D	0.89415	-2.51;-2.51	2.39	2.39	0.29439	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96599	0.8890	H	0.99863	4.86	0.19300	N	0.999978	P;D	0.76494	0.921;0.999	D;D	0.74674	0.936;0.984	D	0.87983	0.2744	9	0.87932	D	0	.	6.7185	0.23316	0.0:0.0:0.0:1.0	.	462;462	P06731;Q53G30	CEAM5_HUMAN;.	H	462;462;180	ENSP00000221992:L462H;ENSP00000385072:L462H	ENSP00000221992:L462H	L	+	2	0	CEACAM5	46914034	0.022000	0.18835	0.433000	0.26760	0.046000	0.14306	1.093000	0.30939	1.361000	0.45981	0.433000	0.28618	CTC		0.517	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		90	358	0	0	0	1	0	90	358					A	42222194	T	A	42222194	3	1	79	1	0	0	0	0	1	0	0	0	3204	1551	54	5	1407	5	CEACAM5	19	42222194	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2618	42222194	16906789	19278	29595											
CEACAM5	1048	broad.mit.edu	37	chr19	42223929	42223929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggccttcacctgtgaaCctgaggctcagaacacaacc	9	14	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42223929C>T	ENST00000221992.6	+	7	1687	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	525	Ig-like 6.				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)		CACCTGTGAACCTGAGGCTCA	0.567																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1573-1575)Cct>Tct		carcinoembryonic antigen-related cell adhesion molecule 5							163	140	148					19																	42223929		2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42223929C>T	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.1573C>T	19.37:g.42223929C>T	ENSP00000221992:p.Pro525Ser					CEACAM5_ENST00000405816.1_Missense_Mutation_p.P525S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P524S	p.P525S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1687	+			525			Ig-like 6.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1573C>T	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.682|4.682	0.126783|0.126783	0.08931|0.08931	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	T;T|.	0.02446|.	4.29;4.29|.	2.53|2.53	0.1|0.1	0.14510|0.14510	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.32615|0.32615	0.0835|0.0835	L|L	0.37800|0.37800	1.135|1.135	0.09310|0.09310	N|N	1|1	B;B|.	0.27700|.	0.032;0.186|.	B;B|.	0.35073|.	0.108;0.195|.	T|T	0.28650|0.28650	-1.0037|-1.0037	9|5	0.44086|.	T|.	0.13|.	.|.	6.8499|6.8499	0.24008|0.24008	0.5356:0.4644:0.0:0.0|0.5356:0.4644:0.0:0.0	.|.	525;525|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	S|I	525;525;243|520	ENSP00000221992:P525S;ENSP00000385072:P525S|.	ENSP00000221992:P525S|.	P|T	+|+	1|2	0|0	CEACAM5|CEACAM5	46915769|46915769	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	-4.237000|-4.237000	0.00268|0.00268	0.076000|0.076000	0.16826|0.16826	0.404000|0.404000	0.27445|0.27445	CCT|ACC		0.567	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		131	682	0	0	0	1	0	131	682					T	42223929	C	T	42223929	3	4	79	1	0	0	0	0	1	0	0	0	3204	507	18	2	1599	2	CEACAM5	19	42223929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1735	42223929	16905054	19279	29596											
CEACAM6	4680	broad.mit.edu	37	chr19	42260853	42260853	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaagaagcaaccggacAgttccatgtataccgtgagt	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42260853A>G	ENST00000199764.6	+	2	628	c.410A>G	c.(409-411)cAg>cGg	p.Q137R	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	137	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCAACCGGACAGTTCCATGTA	0.488																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(409-411)cAg>cGg		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							273	269	270					19																	42260853		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260853A>G	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.410A>G	19.37:g.42260853A>G	ENSP00000199764:p.Gln137Arg					CEA_ENST00000598976.1_Intron	p.Q137R	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	628	+			137			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.410A>G	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	A	1.897	-0.454152	0.04540	.	.	ENSG00000086548	ENST00000199764	T	0.64991	-0.13	2.15	-0.616	0.11583	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52613	0.1745	L	0.60067	1.865	0.09310	N	1	B	0.02656	0.0	B	0.15052	0.012	T	0.35525	-0.9785	9	0.30854	T	0.27	.	6.975	0.24670	0.7167:0.0:0.2833:0.0	.	137	P40199	CEAM6_HUMAN	R	137	ENSP00000199764:Q137R	ENSP00000199764:Q137R	Q	+	2	0	CEACAM6	46952693	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.716000	0.25836	-1.127000	0.02925	-1.889000	0.00537	CAG		0.488	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			256	1220	0	0	0	1	0	256	1220					G	42260853	A	G	42260853	3	3	79	1	0	0	0	0	1	0	0	0	3205	188	7	4	416	4	CEACAM6	19	42260853	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36924	42260853	16868130	19280	29597											
CEACAM6	4680	broad.mit.edu	37	chr19	42266125	42266125	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtcacgatgatcacaGtctctggtaagtggatccat	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42266125G>T	ENST00000199764.6	+	4	1170	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	318					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATGATCACAGTCTCTGGTAA	0.468																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(952-954)Gtc>Ttc		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							102	93	96					19																	42266125		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42266125G>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.952G>T	19.37:g.42266125G>T	ENSP00000199764:p.Val318Phe					AC011513.4_ENST00000601409.1_RNA	p.V318F	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	4	1170	+			318					Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.952G>T	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249697	0.39797	.	.	ENSG00000086548	ENST00000199764	T	0.35789	1.29	2.15	-0.101	0.13618	Immunoglobulin-like fold (1);	.	.	.	.	T	0.66086	0.2754	H	0.97291	3.975	0.09310	N	1	D	0.69078	0.997	D	0.74023	0.982	T	0.53107	-0.8485	9	0.87932	D	0	.	3.8949	0.09135	0.425:0.0:0.575:0.0	.	318	P40199	CEAM6_HUMAN	F	318	ENSP00000199764:V318F	ENSP00000199764:V318F	V	+	1	0	CEACAM6	46957965	0.693000	0.27728	0.076000	0.20297	0.244000	0.25665	1.830000	0.39131	0.229000	0.21039	0.305000	0.20034	GTC		0.468	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			52	225	1	0	6.34439e-16	1	6.95021e-16	52	225					T	42266125	G	T	42266125	3	4	79	1	0	0	0	0	1	0	0	0	3205	1029	36	3	966	3	CEACAM6	19	42266125	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5272	42266125	16862858	19281	29598											
CEACAM3	1084	broad.mit.edu	37	chr19	42301583	42301583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactattgaatccatgccgCtcagtgtcgcagaggggaag	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301583C>T	ENST00000357396.3	+	2	368	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	43	Ig-like V-type.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCCATGCCGCTCAGTGTCGC	0.517																																						ENST00000357396.3																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(127-129)Ctc>Ttc		carcinoembryonic antigen-related cell adhesion molecule 3							158	147	150					19																	42301583		2203	4300	6503	SO:0001583	missense	1084					integral to membrane		g.chr19:42301583C>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.127C>T	19.37:g.42301583C>T	ENSP00000349971:p.Leu43Phe					CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.L43F|CEACAM3_ENST00000344550.4_Missense_Mutation_p.L43F	p.L43F	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			2	368	+			43			Ig-like V-type.		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.127C>T	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	T	4.731	0.136010	0.09032	.	.	ENSG00000170956	ENST00000357396;ENST00000389667;ENST00000221999;ENST00000344550	T;T;T	0.68903	-0.36;-0.36;-0.36	3.44	-6.21	0.02065	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23171	0.0560	N	0.00446	-1.495	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28396	-1.0045	9	0.14656	T	0.56	.	5.5198	0.16925	0.1327:0.5783:0.1335:0.1555	.	43;43	G5E978;P40198	.;CEAM3_HUMAN	F	43	ENSP00000349971:L43F;ENSP00000221999:L43F;ENSP00000341725:L43F	ENSP00000221999:L43F	L	+	1	0	CEACAM3	46993423	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.016000	0.00313	-2.027000	0.00932	-0.439000	0.05793	CTC		0.517	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		175	743	0	0	0	1	0	175	743					T	42301583	C	T	42301583	3	4	79	1	0	0	0	0	1	0	0	0	3202	797	28	2	133	2	CEACAM3	19	42301583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35458	42301583	16827400	19282	29599											
CEACAM3	1084	broad.mit.edu	37	chr19	42301744	42301744	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaggggccgcatacagCggtcgagagacaatatacac	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301744C>T	ENST00000357396.3	+	2	529	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM3_ENST00000344550.4_Silent_p.S96S|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.S96S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	96	Ig-like V-type.					integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCGCATACAGCGGTCGAGAGA	0.463																																						ENST00000357396.3																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(286-288)agC>agT		carcinoembryonic antigen-related cell adhesion molecule 3							200	223	215					19																	42301744		2198	4300	6498	SO:0001819	synonymous_variant	1084					integral to membrane		g.chr19:42301744C>T	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.288C>T	19.37:g.42301744C>T						CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.S96S|CEACAM3_ENST00000344550.4_Silent_p.S96S	p.S96S	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			2	529	+			96			Ig-like V-type.		G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	37	c.288C>T	CCDS12586.2																																																																																				0.463	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		141	1038	0	0	0	1	0	141	1038					T	42301744	C	T	42301744	2	4	79	1	0	0	0	0	0	0	0	1	3202	767	27	1		1	CEACAM3	19	42301744	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	161	42301744	16827239	19283	29600											
LYPD4	147719	broad.mit.edu	37	chr19	42342046	42342046	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtggaactgtaacacgtagaAgcagccaaggggcaagaatt	13	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342046A>T	ENST00000330743.3	-	4	1712	c.501T>A	c.(499-501)gcT>gcA	p.A167A	LYPD4_ENST00000601246.1_Silent_p.A132A|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Silent_p.A132A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	167	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACACGTAGAAGCAGCCAAGG	0.488																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(499-501)gcT>gcA		LY6/PLAUR domain containing 4							64	62	63					19																	42342046		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342046A>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.501T>A	19.37:g.42342046A>T						LYPD4_ENST00000343055.4_Silent_p.A132A|LYPD4_ENST00000601246.1_Silent_p.A132A	p.A167A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1712	-			167			UPAR/Ly6.		Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.501T>A	CCDS12587.1																																																																																				0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		11	203	0	0	0	1	0	11	203					T	42342046	A	T	42342046	2	4	79	1	0	0	0	0	0	0	0	1	9151	59	3	5		5	LYPD4	19	42342046	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40302	42342046	16786937	19284	29601											
LYPD4	147719	broad.mit.edu	37	chr19	42342146	42342146	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacaggacgcagatgtgataGacttaggagtgctggccttg	14	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342146G>T	ENST00000330743.3	-	4	1612	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	134						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGATGTGATAGACTTAGGAGT	0.522																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(400-402)tCt>tAt		LY6/PLAUR domain containing 4							133	113	120					19																	42342146		2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42342146G>T	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.401C>A	19.37:g.42342146G>T	ENSP00000328737:p.Ser134Tyr					LYPD4_ENST00000343055.4_Missense_Mutation_p.S99Y|LYPD4_ENST00000601246.1_Missense_Mutation_p.S99Y	p.S134Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			4	1612	-			134					Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.401C>A	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	g	9.947	1.219168	0.22373	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.13420	3.23;2.59	4.13	3.1	0.35709	.	1.222090	0.05821	N	0.615812	T	0.17450	0.0419	L	0.51422	1.61	0.09310	N	1	P;P	0.39782	0.688;0.561	B;B	0.40659	0.336;0.181	T	0.26189	-1.0110	10	0.62326	D	0.03	-5.1335	7.9833	0.30196	0.1108:0.0:0.8892:0.0	.	99;134	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	Y	134;99	ENSP00000328737:S134Y;ENSP00000339568:S99Y	ENSP00000328737:S134Y	S	-	2	0	LYPD4	47033986	0.005000	0.15991	0.002000	0.10522	0.017000	0.09413	1.495000	0.35627	1.349000	0.45751	-0.389000	0.06534	TCT		0.522	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		14	346	1	0	1.49906e-05	1	1.53515e-05	14	346					T	42342146	G	T	42342146	3	4	79	1	0	0	0	0	1	0	0	0	9151	942	33	3	347	3	LYPD4	19	42342146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100	42342146	16786837	19285	29602											
LYPD4	147719	broad.mit.edu	37	chr19	42342983	42342983	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaacactagcgtctcctcGcagccctcttgcagcttaca	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342983G>A	ENST00000330743.3	-	3	1394	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LYPD4_ENST00000601246.1_Intron|AC020956.3_ENST00000593354.1_lincRNA|LYPD4_ENST00000343055.4_Intron	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	61						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCGTCTCCTCGCAGCCCTCTT	0.493																																						ENST00000330743.3																			0				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						c.(181-183)tgC>tgT		LY6/PLAUR domain containing 4							162	149	154					19																	42342983		2203	4300	6503	SO:0001819	synonymous_variant	147719					anchored to membrane|plasma membrane		g.chr19:42342983G>A	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.183C>T	19.37:g.42342983G>A						LYPD4_ENST00000343055.4_Intron|LYPD4_ENST00000601246.1_Intron	p.C61C	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN			3	1394	-			61					Q8IYW0	Silent	SNP	ENST00000330743.3	37	c.183C>T	CCDS12587.1																																																																																				0.493	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506		131	497	0	0	0	1	0	131	497					A	42342983	G	A	42342983	2	1	79	1	0	0	0	0	0	0	0	1	9151	1079	38	1		1	LYPD4	19	42342983	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	837	42342983	16786000	19286	29603											
DMRTC2	63946	broad.mit.edu	37	chr19	42352907	42352907	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatcccccggaagcctcGcccttgtcctggactccggt	10	18	0	0	rs570158158		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42352907G>A	ENST00000269945.3	+	5	543	c.492G>A	c.(490-492)tcG>tcA	p.S164S	DMRTC2_ENST00000596827.1_Silent_p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	164	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGGAAGCCTCGCCCTTGTCCT	0.647																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(490-492)tcG>tcA		DMRT-like family C2							84	92	89					19																	42352907		2203	4300	6503	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42352907G>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.492G>A	19.37:g.42352907G>A						DMRTC2_ENST00000596827.1_Silent_p.S164S	p.S164S	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			5	543	+			164			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.492G>A	CCDS33034.1																																																																																				0.647	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		288	624	0	0	0	1	0	288	624					A	42352907	G	A	42352907	2	1	79	1	0	0	0	0	0	0	0	1	4607	1074	38	1		1	DMRTC2	19	42352907	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9924	42352907	16776076	19287	29604											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396876	42396876	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccagctacgaggcccgggaGcggcacgtggcggagcggct	19	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42396876G>T	ENST00000354532.3	+	7	718	c.570G>T	c.(568-570)gaG>gaT	p.E190D	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.E190D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	190	RGSL.				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)		AGGCCCGGGAGCGGCACGTGG	0.701																																						ENST00000599846.1																			0				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						c.(568-570)gaG>gaT		Rho guanine nucleotide exchange factor (GEF) 1							14	17	16					19																	42396876		2196	4288	6484	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42396876G>T	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.570G>T	19.37:g.42396876G>T	ENSP00000346532:p.Glu190Asp					ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E190D|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E157D|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E205D|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E172D	p.E190D			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	7	695	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	190			RGSL.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.570G>T	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641038	0.67244	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	4.32	-0.579	0.11720	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.139750	0.45126	N	0.000394	D	0.90456	0.7011	M	0.76838	2.35	0.36530	D	0.870656	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.998;0.999	D;D;D;D;D	0.83275	0.996;0.99;0.987;0.954;0.994	D	0.87937	0.2714	10	0.52906	T	0.07	-23.3088	5.5374	0.17020	0.2854:0.1504:0.5642:0.0	.	172;205;157;190;250	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	D	190;157;226;205;172	ENSP00000346532:E190D;ENSP00000344429:E157D;ENSP00000337261:E205D;ENSP00000367394:E172D	ENSP00000323044:E226D	E	+	3	2	ARHGEF1	47088716	1.000000	0.71417	0.999000	0.59377	0.820000	0.46376	1.784000	0.38674	0.059000	0.16252	0.306000	0.20318	GAG		0.701	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		27	99	1	0	2.48779e-11	1	2.65321e-11	27	99					T	42396876	G	T	42396876	3	4	79	1	0	0	0	0	1	0	0	0	893	962	34	3	641	3	ARHGEF1	19	42396876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43969	42396876	16732107	19288	29605											
ARHGEF1	9138	broad.mit.edu	37	chr19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgaggagatcggagacGtgctgctggcccgggtgaga	17	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42406492G>A	ENST00000354532.3	+	16	1631	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.V551M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M	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																																						ENST00000599846.1																			0				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						c.(1651-1653)Gtg>Atg		Rho guanine nucleotide exchange factor (GEF) 1							61	57	58					19																	42406492		2203	4300	6503	SO:0001583	missense	0				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42406492G>A	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					ARHGEF1_ENST00000354532.3_Missense_Mutation_p.V495M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M	p.V551M			Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	17	1776	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	495			DH.		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.1651G>A	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	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		0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		53	279	0	0	0	1	0	53	279					A	42406492	G	A	42406492	3	1	79	1	0	0	0	0	1	0	0	0	893	1145	40	1	1590	1	ARHGEF1	19	42406492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9616	42406492	16722491	19289	29606											
ATP1A3	478	broad.mit.edu	37	chr19	42482344	42482344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcccaccgcgtcagggaCggctgcccggggtgggtcga	17	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42482344C>T	ENST00000302102.5	-	13	1915	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V602I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	589					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						GCGTCAGGGACGGCTGCCCGG	0.652																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(1804-1806)Gtc>Atc		ATPase, Na+/K+ transporting, alpha 3 polypeptide							61	59	60					19																	42482344		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42482344C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1765G>A	19.37:g.42482344C>T	ENSP00000302397:p.Val589Ile					ATP1A3_ENST00000602133.1_Missense_Mutation_p.V559I|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V589I|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V600I	p.V602I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			13	1957	-			589					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1804G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167298	0.94768	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	T;D;T;T	0.96168	-1.36;-3.93;-1.36;-1.36	4.44	4.44	0.53790	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.83692	2.655	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;0.997;0.987	D;P;P;P	0.76575	0.988;0.582;0.829;0.706	D	0.98091	1.0409	10	0.87932	D	0	.	14.9849	0.71339	0.0:1.0:0.0:0.0	.	602;600;589;589	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	I	589;589;602;559;333;600	ENSP00000302397:V589I;ENSP00000411503:V589I;ENSP00000444688:V602I;ENSP00000437577:V600I	ENSP00000302397:V589I	V	-	1	0	ATP1A3	47174184	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	7.554000	0.82212	2.478000	0.83669	0.561000	0.74099	GTC		0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		48	226	0	0	0	1	0	48	226					T	42482344	C	T	42482344	3	4	79	1	0	0	0	0	1	0	0	0	1131	536	19	1	1320	1	ATP1A3	19	42482344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75852	42482344	16646639	19290	29607											
GRIK5	2901	broad.mit.edu	37	chr19	42546761	42546761	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgggctcgggcgccccGtacagcccatcctccaccaa	10	19	0	0	rs377765278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42546761G>A	ENST00000262895.3	-	11	1415	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	GRIK5_ENST00000593562.1_Silent_p.Y472Y|GRIK5_ENST00000301218.4_Silent_p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	472					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)				CGGGCGCCCCGTACAGCCCAT	0.677																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1414-1416)taC>taT		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)	G		2,4404	2.1+/-5.4	0,2,2201	43	47	46		1416	-9.7	0.5	19		46	0,8598		0,0,4299	no	coding-synonymous	GRIK5	NM_002088.3		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		472/981	42546761	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42546761G>A		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.1416C>T	19.37:g.42546761G>A						GRIK5_ENST00000593562.1_Silent_p.Y472Y|GRIK5_ENST00000301218.4_Silent_p.Y472Y	p.Y472Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			11	1415	-		Prostate(69;0.059)	472					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1416C>T	CCDS12595.1																																																																																				0.677	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			86	425	0	0	0	1	0	86	425					A	42546761	G	A	42546761	2	1	79	1	0	0	0	0	0	0	0	1	6807	1140	40	1		1	GRIK5	19	42546761	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64417	42546761	16582222	19291	29608											
ZNF574	64763	broad.mit.edu	37	chr19	42583614	42583614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggtgaagccattgggCgggatcgccgggggcgcagg	20	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42583614C>T	ENST00000600245.1	+	2	1511	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	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)			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)				AGCCATTGGGCGGGATCGCCG	0.637																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(856-858)Cgg>Tgg		zinc finger protein 574							53	62	59					19																	42583614		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583614C>T	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.856C>T	19.37:g.42583614C>T	ENSP00000469029:p.Arg286Trp					ZNF574_ENST00000359044.4_Missense_Mutation_p.R286W|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R376W	p.R286W			Q6ZN55	ZN574_HUMAN			2	1511	+		Prostate(69;0.059)	286					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.856C>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079695	0.55753	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.07327	3.2;3.25	4.96	3.91	0.45181	.	0.323021	0.21335	N	0.076227	T	0.11281	0.0275	N	0.08118	0	0.28114	N	0.930871	D;D	0.89917	0.999;1.0	P;D	0.70935	0.877;0.971	T	0.17501	-1.0367	10	0.35671	T	0.21	-13.0784	11.9409	0.52901	0.3142:0.6858:0.0:0.0	.	286;375	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	W	376;286	ENSP00000222339:R376W;ENSP00000351939:R286W	ENSP00000222339:R376W	R	+	1	2	ZNF574	47275454	0.000000	0.05858	0.730000	0.30809	0.922000	0.55478	0.114000	0.15520	1.258000	0.44101	0.655000	0.94253	CGG		0.637	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		112	467	0	0	0	1	0	112	467					T	42583614	C	T	42583614	3	4	79	1	0	0	0	0	1	0	0	0	18059	759	27	1	858	1	ZNF574	19	42583614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36853	42583614	16545369	19292	29609											
ZNF574	64763	broad.mit.edu	37	chr19	42585038	42585038	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtgcaccggcgcatccaCacaggtgagcggccataccc	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585038C>T	ENST00000600245.1	+	2	2935	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	ZNF574_ENST00000359044.4_Silent_p.H760H|ZNF574_ENST00000222339.7_Silent_p.H850H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	760					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)				GGCGCATCCACACAGGTGAGC	0.647																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2278-2280)caC>caT		zinc finger protein 574							139	137	138					19																	42585038		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585038C>T	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.2280C>T	19.37:g.42585038C>T						ZNF574_ENST00000359044.4_Silent_p.H760H|ZNF574_ENST00000222339.7_Silent_p.H850H	p.H760H			Q6ZN55	ZN574_HUMAN			2	2935	+		Prostate(69;0.059)	760					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.2280C>T	CCDS12596.1																																																																																				0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		215	1067	0	0	0	1	0	215	1067					T	42585038	C	T	42585038	2	4	79	1	0	0	0	0	0	0	0	1	18059	477	17	2		2	ZNF574	19	42585038	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1424	42585038	16543945	19293	29610											
ZNF574	64763	broad.mit.edu	37	chr19	42585196	42585196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcgcctggcagaacatcGccgcatccacacaggcgaac	10	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585196G>A	ENST00000600245.1	+	2	3093	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	813					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)				GCAGAACATCGCCGCATCCAC	0.612																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2437-2439)cGc>cAc		zinc finger protein 574							66	66	66					19																	42585196		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42585196G>A	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.2438G>A	19.37:g.42585196G>A	ENSP00000469029:p.Arg813His					ZNF574_ENST00000359044.4_Missense_Mutation_p.R813H|ZNF574_ENST00000222339.7_Missense_Mutation_p.R903H	p.R813H			Q6ZN55	ZN574_HUMAN			2	3093	+		Prostate(69;0.059)	813					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.2438G>A	CCDS12596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.936183|2.936183	0.52972|0.52972	.|.	.|.	ENSG00000105732|ENSG00000105732	ENST00000535775|ENST00000222339;ENST00000359044	.|T;T	.|0.07688	.|3.17;3.17	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.077728	.|0.49305	.|D	.|0.000142	T|T	0.15176|0.15176	0.0366|0.0366	L|L	0.31845|0.31845	0.965|0.965	0.34860|0.34860	D|D	0.742544|0.742544	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.957;0.982	T|T	0.07908|0.07908	-1.0748|-1.0748	6|10	0.72032|0.48119	D|T	0.01|0.1	-21.3264|-21.3264	7.1979|7.1979	0.25864|0.25864	0.1825:0.0:0.8175:0.0|0.1825:0.0:0.8175:0.0	.|.	.|813;902	.|Q6ZN55;Q6ZN55-2	.|ZN574_HUMAN;.	T|H	420|903;813	.|ENSP00000222339:R903H;ENSP00000351939:R813H	ENSP00000445515:A420T|ENSP00000222339:R903H	A|R	+|+	1|2	0|0	ZNF574|ZNF574	47277036|47277036	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.503000|1.503000	0.35715|0.35715	2.510000|2.510000	0.84645|0.84645	0.557000|0.557000	0.71058|0.71058	GCC|CGC		0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		96	425	0	0	0	1	0	96	425					A	42585196	G	A	42585196	3	1	79	1	0	0	0	0	1	0	0	0	18059	1087	38	1	2440	1	ZNF574	19	42585196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158	42585196	16543787	19294	29611											
ZNF526	116115	broad.mit.edu	37	chr19	42729326	42729326	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggaggccatggcagaggtCggtgatgatgctgtgggagg	21	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42729326C>T	ENST00000301215.3	+	3	996	c.771C>T	c.(769-771)gtC>gtT	p.V257V		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGGCAGAGGTCGGTGATGATG	0.612																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(769-771)gtC>gtT		zinc finger protein 526							126	67	87					19																	42729326		2202	4300	6502	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42729326C>T	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.771C>T	19.37:g.42729326C>T							p.V257V	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	996	+		Prostate(69;0.0704)	257					B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.771C>T	CCDS12598.1																																																																																				0.612	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		52	214	0	0	0	1	0	52	214					T	42729326	C	T	42729326	2	4	79	1	0	0	0	0	0	0	0	1	18020	871	31	1		1	ZNF526	19	42729326	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144130	42729326	16399657	19295	29612											
ERF	2077	broad.mit.edu	37	chr19	42752816	42752816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactccagcgccgcttaaagCgtagcttgaggggcatgcac	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42752816C>T	ENST00000222329.4	-	4	1605	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.R408H|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	483					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGCTTAAAGCGTAGCTTGAG	0.677																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1447-1449)cGc>cAc		Ets2 repressor factor							35	41	39					19																	42752816		2203	4292	6495	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42752816C>T	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1448G>A	19.37:g.42752816C>T	ENSP00000222329:p.Arg483His					ERF_ENST00000440177.2_Missense_Mutation_p.R408H|AC006486.9_ENST00000594664.1_Intron	p.R483H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1605	-		Prostate(69;0.00682)	483					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1448G>A	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448516	0.84101	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.39229	2.07;1.09	4.12	4.12	0.48240	.	0.000000	0.33040	U	0.005349	T	0.58538	0.2129	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.62656	-0.6808	10	0.87932	D	0	.	14.2641	0.66104	0.0:1.0:0.0:0.0	.	483	P50548	ERF_HUMAN	H	483;408	ENSP00000222329:R483H;ENSP00000388173:R408H	ENSP00000222329:R483H	R	-	2	0	ERF	47444656	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.317000	0.72862	2.297000	0.77311	0.561000	0.74099	CGC		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		101	495	0	0	0	1	0	101	495					T	42752816	C	T	42752816	3	4	79	1	0	0	0	0	1	0	0	0	5239	768	27	1	202	1	ERF	19	42752816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23490	42752816	16376167	19296	29613											
ERF	2077	broad.mit.edu	37	chr19	42753023	42753023	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggcggtggggctagcgccCctgccccctcagccagcccg	16	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753023C>A	ENST00000222329.4	-	4	1398	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.G339V|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	414					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGCTAGCGCCCCTGCCCCCTC	0.692																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1240-1242)gGg>gTg		Ets2 repressor factor							31	40	37					19																	42753023		2154	4187	6341	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753023C>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1241G>T	19.37:g.42753023C>A	ENSP00000222329:p.Gly414Val					ERF_ENST00000440177.2_Missense_Mutation_p.G339V|AC006486.9_ENST00000594664.1_Intron	p.G414V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1398	-		Prostate(69;0.00682)	414					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.1241G>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	2.385	-0.341122	0.05243	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.19938	3.16;2.11	4.05	1.71	0.24356	.	4.932210	0.00424	N	0.000070	T	0.18882	0.0453	L	0.36672	1.1	0.52501	D	0.999958	B	0.06786	0.001	B	0.04013	0.001	T	0.26710	-1.0095	10	0.32370	T	0.25	.	6.6114	0.22753	0.1758:0.7224:0.0:0.1018	.	414	P50548	ERF_HUMAN	V	414;339	ENSP00000222329:G414V;ENSP00000388173:G339V	ENSP00000222329:G414V	G	-	2	0	ERF	47444863	0.009000	0.17119	0.815000	0.32552	0.439000	0.31926	0.812000	0.27211	1.042000	0.40150	0.609000	0.83330	GGG		0.692	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		187	693	1	0	2.08549e-97	1	2.68121e-97	187	693					A	42753023	C	A	42753023	3	1	79	1	0	0	0	0	1	0	0	0	5239	623	22	3	409	3	ERF	19	42753023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207	42753023	16375960	19297	29614											
ERF	2077	broad.mit.edu	37	chr19	42753278	42753278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggtagtgcaggaaggcgCgggggctgaggtggtagttg	22	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753278C>T	ENST00000222329.4	-	4	1143	c.986G>A	c.(985-987)cGc>cAc	p.R329H	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.R254H|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	329					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGGAAGGCGCGGGGGCTGAG	0.682																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(985-987)cGc>cAc		Ets2 repressor factor							39	46	43					19																	42753278		2199	4290	6489	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753278C>T	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.986G>A	19.37:g.42753278C>T	ENSP00000222329:p.Arg329His					ERF_ENST00000440177.2_Missense_Mutation_p.R254H|AC006486.9_ENST00000594664.1_Intron	p.R329H	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1143	-		Prostate(69;0.00682)	329					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.986G>A	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116673	0.77323	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.33865	1.39;1.39	4.82	3.78	0.43462	.	0.148471	0.44902	D	0.000416	T	0.52322	0.1727	L	0.57536	1.79	0.58432	D	0.99999	D	0.76494	0.999	D	0.76071	0.987	T	0.54302	-0.8314	10	0.87932	D	0	.	10.4326	0.44417	0.0:0.9038:0.0:0.0962	.	329	P50548	ERF_HUMAN	H	329;254	ENSP00000222329:R329H;ENSP00000388173:R254H	ENSP00000222329:R329H	R	-	2	0	ERF	47445118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.506000	0.66993	2.382000	0.81193	0.655000	0.94253	CGC		0.682	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		33	297	0	0	0	1	0	33	297					T	42753278	C	T	42753278	3	4	79	1	0	0	0	0	1	0	0	0	5239	768	27	1	664	1	ERF	19	42753278	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255	42753278	16375705	19298	29615											
ERF	2077	broad.mit.edu	37	chr19	42753347	42753347	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accgtttcatgtcctcagggCtgaaggagaagtgggagcct	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753347C>A	ENST00000222329.4	-	4	1074	c.917G>T	c.(916-918)aGc>aTc	p.S306I	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.S231I|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	306					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTCCTCAGGGCTGAAGGAGAA	0.667																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(916-918)aGc>aTc		Ets2 repressor factor							49	53	52					19																	42753347		2203	4298	6501	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753347C>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.917G>T	19.37:g.42753347C>A	ENSP00000222329:p.Ser306Ile					ERF_ENST00000440177.2_Missense_Mutation_p.S231I|AC006486.9_ENST00000594664.1_Intron	p.S306I	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1074	-		Prostate(69;0.00682)	306					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.917G>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329046	0.60743	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.29397	1.57;1.57	5.09	4.05	0.47172	.	0.060727	0.64402	D	0.000007	T	0.14700	0.0355	N	0.08118	0	0.36871	D	0.88889	P	0.45126	0.851	B	0.38880	0.284	T	0.13629	-1.0502	10	0.87932	D	0	.	7.9331	0.29914	0.0:0.8129:0.0:0.1871	.	306	P50548	ERF_HUMAN	I	306;231	ENSP00000222329:S306I;ENSP00000388173:S231I	ENSP00000222329:S306I	S	-	2	0	ERF	47445187	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.991000	0.49409	1.271000	0.44313	0.655000	0.94253	AGC		0.667	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		33	159	1	0	2.68265e-12	1	2.87809e-12	33	159					A	42753347	C	A	42753347	3	1	79	1	0	0	0	0	1	0	0	0	5239	797	28	3	733	3	ERF	19	42753347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	69	42753347	16375636	19299	29616											
CIC	23152	broad.mit.edu	37	chr19	42792029	42792029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaccgaaagaagtccaGctcagaggccaagcccacga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42792029G>A	ENST00000575354.2	+	6	873	c.833G>A	c.(832-834)aGc>aAc	p.S278N	CIC_ENST00000572681.2_Missense_Mutation_p.S1187N|CIC_ENST00000160740.3_Missense_Mutation_p.S278N	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	278					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)				AAGAAGTCCAGCTCAGAGGCC	0.647			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3559-3561)aGc>aAc		capicua transcriptional repressor							28	25	26					19																	42792029		2202	4300	6502	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42792029G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.833G>A	19.37:g.42792029G>A	ENSP00000458663:p.Ser278Asn					CIC_ENST00000160740.3_Missense_Mutation_p.S278N|CIC_ENST00000575354.2_Missense_Mutation_p.S278N	p.S1187N			Q96RK0	CIC_HUMAN			7	3628	+		Prostate(69;0.00682)	278			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3560G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620010	0.46736	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.59	4.59	0.56863	High mobility group, HMG1/HMG2 (1);	.	.	.	.	T	0.68339	0.2990	L	0.55213	1.73	0.41738	D	0.989599	D	0.69078	0.997	P	0.60789	0.879	T	0.72747	-0.4200	8	0.87932	D	0	-12.7475	14.9544	0.71101	0.0:0.0:1.0:0.0	.	278	Q96RK0	CIC_HUMAN	N	278	.	ENSP00000160740:S278N	S	+	2	0	CIC	47483869	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.802000	0.62539	2.391000	0.81399	0.555000	0.69702	AGC		0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	84	0	0	0	1	0	6	84					A	42792029	G	A	42792029	3	1	79	1	0	0	0	0	1	0	0	0	3433	971	34	2	855	2	CIC	19	42792029	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38682	42792029	16336954	19300	29617											
CIC	23152	broad.mit.edu	37	chr19	42795086	42795086	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgcctgggggctccccGctgggtgtcagcttagtgta	17	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42795086G>A	ENST00000575354.2	+	10	2206	c.2166G>A	c.(2164-2166)ccG>ccA	p.P722P	CIC_ENST00000572681.2_Silent_p.P1631P|CIC_ENST00000160740.3_Silent_p.P722P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	722	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)				GGGGCTCCCCGCTGGGTGTCA	0.647			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4891-4893)ccG>ccA		capicua transcriptional repressor							26	27	26					19																	42795086		2199	4293	6492	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795086G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2166G>A	19.37:g.42795086G>A						CIC_ENST00000160740.3_Silent_p.P722P|CIC_ENST00000575354.2_Silent_p.P722P	p.P1631P			Q96RK0	CIC_HUMAN			11	4961	+		Prostate(69;0.00682)	722					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.4893G>A	CCDS12601.1																																																																																				0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			38	181	0	0	0	1	0	38	181					A	42795086	G	A	42795086	2	1	79	1	0	0	0	0	0	0	0	1	3433	1074	38	1		1	CIC	19	42795086	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3057	42795086	16333897	19301	29618											
CIC	23152	broad.mit.edu	37	chr19	42797365	42797365	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagacctggactcccacgGcccggagcagccccccactg	11	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42797365G>A	ENST00000575354.2	+	15	3767	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T	CIC_ENST00000572681.2_Missense_Mutation_p.A2150T|CIC_ENST00000160740.3_Missense_Mutation_p.A1241T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1243	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)				GACTCCCACGGCCCGGAGCAG	0.716			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6448-6450)Gcc>Acc		capicua transcriptional repressor							9	10	10					19																	42797365		2161	4260	6421	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797365G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3727G>A	19.37:g.42797365G>A	ENSP00000458663:p.Ala1243Thr					CIC_ENST00000160740.3_Missense_Mutation_p.A1241T|CIC_ENST00000575354.2_Missense_Mutation_p.A1243T	p.A2150T			Q96RK0	CIC_HUMAN			16	6516	+		Prostate(69;0.00682)	1243					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.6448G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404741	0.25378	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.54	2.06	0.26882	.	.	.	.	.	T	0.17662	0.0424	N	0.08118	0	0.24145	N	0.995716	B	0.06786	0.001	B	0.04013	0.001	T	0.19321	-1.0309	8	0.87932	D	0	-3.0206	4.6748	0.12706	0.1533:0.2077:0.6391:0.0	.	1243	Q96RK0	CIC_HUMAN	T	1243	.	ENSP00000160740:A1243T	A	+	1	0	CIC	47489205	0.635000	0.27199	0.516000	0.27786	0.254000	0.26022	0.944000	0.29043	0.453000	0.26858	0.491000	0.48974	GCC		0.716	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	57	0	0	0	1	0	8	57					A	42797365	G	A	42797365	3	1	79	1	0	0	0	0	1	0	0	0	3433	1203	42	2	3785	2	CIC	19	42797365	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2279	42797365	16331618	19302	29619											
CIC	23152	broad.mit.edu	37	chr19	42799146	42799146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccgccccccactggcaccGctgctgcccctgcccccact	7	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42799146G>A	ENST00000575354.2	+	20	4670	c.4630G>A	c.(4630-4632)Gct>Act	p.A1544T	CIC_ENST00000572681.2_Missense_Mutation_p.A2450T|CIC_ENST00000160740.3_Missense_Mutation_p.A1542T	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1544	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)				cactggcaccgctgctgcccc	0.726			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7348-7350)Gct>Act		capicua transcriptional repressor							9	11	11					19																	42799146		2176	4261	6437	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799146G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4630G>A	19.37:g.42799146G>A	ENSP00000458663:p.Ala1544Thr					CIC_ENST00000160740.3_Missense_Mutation_p.A1542T|CIC_ENST00000575354.2_Missense_Mutation_p.A1544T	p.A2450T			Q96RK0	CIC_HUMAN			21	7416	+		Prostate(69;0.00682)	1544					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7348G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.862015	0.32884	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.25	2.12	0.27331	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.19300	N	0.99998	B	0.12630	0.006	B	0.04013	0.001	T	0.18777	-1.0326	8	0.87932	D	0	-2.1472	3.5746	0.07930	0.2114:0.0:0.5901:0.1984	.	1544	Q96RK0	CIC_HUMAN	T	1544	.	ENSP00000160740:A1544T	A	+	1	0	CIC	47490986	0.046000	0.20272	0.524000	0.27887	0.942000	0.58702	0.040000	0.13905	0.554000	0.29061	0.561000	0.74099	GCT		0.726	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			35	121	0	0	0	1	0	35	121					A	42799146	G	A	42799146	3	1	79	1	0	0	0	0	1	0	0	0	3433	1087	38	1	4708	1	CIC	19	42799146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1781	42799146	16329837	19303	29620											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42804140	42804140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagcaccacaacccgggcCtggggctgtcgctcattcac	10	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42804140C>A	ENST00000262890.3	-	4	651	c.390G>T	c.(388-390)caG>caT	p.Q130H	PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.Q130H	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	130					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CAACCCGGGCCTGGGGCTGTC	0.587																																						ENST00000538771.1																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(388-390)caG>caT		platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)							124	120	122					19																	42804140		2203	4300	6503	SO:0001583	missense	5050				lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding	g.chr19:42804140C>A	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"PAF-AH1b alpha 1 subunit"	603074	"platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)", "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.390G>T	19.37:g.42804140C>A	ENSP00000262890:p.Gln130His					PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.Q130H	p.Q130H	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN			5	746	-		Prostate(69;0.0704)	130					Q53X88	Missense_Mutation	SNP	ENST00000262890.3	37	c.390G>T	CCDS12602.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241555	0.39598	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.42900	0.96;0.96	5.59	3.42	0.39159	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.230320	0.44483	N	0.000445	T	0.32912	0.0845	L	0.61387	1.9	0.41722	D	0.989517	B	0.32425	0.371	B	0.26969	0.075	T	0.11792	-1.0573	10	0.36615	T	0.2	-25.9708	5.0651	0.14578	0.1687:0.6609:0.0:0.1704	.	130	Q15102	PA1B3_HUMAN	H	130	ENSP00000444935:Q130H;ENSP00000262890:Q130H	ENSP00000262890:Q130H	Q	-	3	2	PAFAH1B3	47495980	0.997000	0.39634	1.000000	0.80357	0.986000	0.74619	0.531000	0.23052	0.687000	0.31509	0.563000	0.77884	CAG		0.587	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	NM_002573		18	765	1	0	3.32936e-07	1	3.45006e-07	18	765					A	42804140	C	A	42804140	3	1	79	1	0	0	0	0	1	0	0	0	11428	680	24	3	313	3	PAFAH1B3	19	42804140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4994	42804140	16324843	19304	29621											
MEGF8	1954	broad.mit.edu	37	chr19	42837896	42837896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgggagcacccgacctccGcccatcgaagcttcctcagg	11	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42837896G>A	ENST00000251268.6	+	2	327	c.327G>A	c.(325-327)ccG>ccA	p.P109P	MEGF8_ENST00000334370.4_Silent_p.P109P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	109	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)				CCCGACCTCCGCCCATCGAAG	0.582																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(325-327)ccG>ccA		multiple EGF-like-domains 8							52	56	55					19																	42837896		2077	4211	6288	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42837896G>A	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.327G>A	19.37:g.42837896G>A						MEGF8_ENST00000251268.6_Silent_p.P109P	p.P109P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			2	962	+		Prostate(69;0.00682)	109			CUB 1.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.327G>A																																																																																					0.582	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		48	245	0	0	0	1	0	48	245					A	42837896	G	A	42837896	2	1	79	1	0	0	0	0	0	0	0	1	9504	1074	38	1		1	MEGF8	19	42837896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33756	42837896	16291087	19305	29622											
MEGF8	1954	broad.mit.edu	37	chr19	42848687	42848687	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacagcccctccacggggacCtggcaccctgggctggtgcg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42848687C>A	ENST00000251268.6	+	11	1883	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	MEGF8_ENST00000334370.4_Missense_Mutation_p.P628H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	628					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)				CCACGGGGACCTGGCACCCTG	0.711																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1882-1884)cCt>cAt		multiple EGF-like-domains 8							17	21	20					19																	42848687		2201	4296	6497	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848687C>A	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.1883C>A	19.37:g.42848687C>A	ENSP00000251268:p.Pro628His					MEGF8_ENST00000251268.6_Missense_Mutation_p.P628H	p.P628H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			11	2518	+		Prostate(69;0.00682)	652					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.1883C>A		.	.	.	.	.	.	.	.	.	.	C	9.373	1.070957	0.20147	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20738	2.06;2.05	4.64	4.64	0.57946	.	0.155915	0.40908	D	0.000999	T	0.17746	0.0426	N	0.08118	0	0.80722	D	1	D;D	0.69078	0.991;0.997	P;P	0.57548	0.687;0.823	T	0.05632	-1.0873	10	0.27785	T	0.31	-8.9146	8.7811	0.34792	0.0:0.8953:0.0:0.1047	.	628;628	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	628	ENSP00000334219:P628H;ENSP00000251268:P628H	ENSP00000251268:P628H	P	+	2	0	MEGF8	47540527	0.999000	0.42202	0.415000	0.26534	0.245000	0.25701	5.236000	0.65354	2.139000	0.66308	0.306000	0.20318	CCT		0.711	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		51	151	1	0	5.73435e-26	1	6.59582e-26	51	151					A	42848687	C	A	42848687	3	1	79	1	0	0	0	0	1	0	0	0	9504	681	24	3	1925	3	MEGF8	19	42848687	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10791	42848687	16280296	19306	29623											
MEGF8	1954	broad.mit.edu	37	chr19	42857101	42857101	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggaggactgtggccaTggtgtgtgcagtggcccccc	16	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42857101T>G	ENST00000251268.6	+	20	3372	c.3372T>G	c.(3370-3372)caT>caG	p.H1124Q	MEGF8_ENST00000334370.4_Missense_Mutation_p.H1057Q	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1124					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)				ACTGTGGCCATGGTGTGTGCA	0.682																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3169-3171)caT>caG		multiple EGF-like-domains 8							36	28	31					19																	42857101		2201	4294	6495	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42857101T>G	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.3372T>G	19.37:g.42857101T>G	ENSP00000251268:p.His1124Gln					MEGF8_ENST00000251268.6_Missense_Mutation_p.H1124Q	p.H1057Q	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			19	3806	+		Prostate(69;0.00682)	1124					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.3171T>G		.	.	.	.	.	.	.	.	.	.	T	14.13	2.442395	0.43326	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21932	1.98;1.99	5.41	-4.91	0.03085	Epidermal growth factor-like (1);	0.159391	0.42682	D	0.000661	T	0.11537	0.0281	N	0.21194	0.64	0.80722	D	1	P;B	0.34934	0.476;0.22	B;B	0.29267	0.1;0.042	T	0.01071	-1.1461	10	0.62326	D	0.03	-12.568	15.5599	0.76237	0.0:0.6235:0.0:0.3765	.	1124;1057	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Q	1057;1124	ENSP00000334219:H1057Q;ENSP00000251268:H1124Q	ENSP00000251268:H1124Q	H	+	3	2	MEGF8	47548941	0.020000	0.18652	0.953000	0.39169	0.823000	0.46562	-1.492000	0.02300	-0.873000	0.04032	-0.366000	0.07423	CAT		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	34	0	0	0	1	0	7	34					G	42857101	T	G	42857101	3	3	79	1	0	0	0	0	1	0	0	0	9504	1461	51	4	3245	4	MEGF8	19	42857101	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8414	42857101	16271882	19307	29624											
MEGF8	1954	broad.mit.edu	37	chr19	42858175	42858175	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgacagcagcaccccctgcaCggtgagcactgaggaaacga	12	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	ENST00000251268.6	+	22	4010	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	MEGF8_ENST00000334370.4_Splice_Site_p.T1270M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1337	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)				ACCCCCTGCACGGTGAGCACT	0.622																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e21+1		multiple EGF-like-domains 8																																				SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42858175C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4011+1C>T	19.37:g.42858175C>T						MEGF8_ENST00000251268.6_Splice_Site_p.T1337_splice	p.T1270_splice	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			21	4444	+		Prostate(69;0.00682)	1337			CUB 2.		A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37	c.3810_splice		.	.	.	.	.	.	.	.	.	.	C	18.26	3.584624	0.65992	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.29917	1.55;1.55	4.81	4.81	0.61882	CUB (1);	0.147023	0.44688	D	0.000436	T	0.45756	0.1358	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.951;0.997	T	0.41858	-0.9485	10	0.56958	D	0.05	-9.1631	16.8144	0.85729	0.0:1.0:0.0:0.0	.	1337;1270	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	M	1270;1337	ENSP00000334219:T1270M;ENSP00000251268:T1337M	ENSP00000251268:T1337M	T	+	2	0	MEGF8	47550015	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.297000	0.43593	2.500000	0.84329	0.655000	0.94253	ACG		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Missense_Mutation	9	29	0	0	0	1	0	9	29					T	42858175	C	T	42858175	5	4	79	1	0	0	0	0	0	0	1	0	9504	550	19	1	3891	1	MEGF8	19	42858175	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1074	42858175	16270808	19308	29625											
MEGF8	1954	broad.mit.edu	37	chr19	42863068	42863068	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgctcttgctggtacaGgaggtttcctggaggaaatc	15	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42863068G>T	ENST00000251268.6	+	30	5305	c.5305G>T	c.(5305-5307)Gga>Tga	p.G1769*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.G1702*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1769					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)				TGCTGGTACAGGAGGTTTCCT	0.572																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5104-5106)Gga>Tga		multiple EGF-like-domains 8							49	48	48					19																	42863068		2203	4299	6502	SO:0001587	stop_gained	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42863068G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5305G>T	19.37:g.42863068G>T	ENSP00000251268:p.Gly1769*					MEGF8_ENST00000251268.6_Nonsense_Mutation_p.G1769*	p.G1702*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			29	5739	+		Prostate(69;0.00682)	1769					A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37	c.5104G>T		.	.	.	.	.	.	.	.	.	.	G	47	13.094293	0.99719	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	3.39	-0.167	0.13347	.	0.675623	0.12162	N	0.493866	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.0309	2.5615	0.04773	0.276:0.0:0.4938:0.2302	.	.	.	.	X	1702;1769	.	ENSP00000251268:G1769X	G	+	1	0	MEGF8	47554908	0.001000	0.12720	0.002000	0.10522	0.184000	0.23303	0.106000	0.15354	-0.048000	0.13401	0.462000	0.41574	GGA		0.572	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		20	81	1	0	3.5997e-14	1	3.90403e-14	20	81					T	42863068	G	T	42863068	4	4	79	1	0	0	0	0	0	1	0	0	9504	1001	35	3	5218	3	MEGF8	19	42863068	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4893	42863068	16265915	19309	29626											
MEGF8	1954	broad.mit.edu	37	chr19	42866638	42866638	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactgtcggatcaaccagCgagaggtcttctgggcaggg	15	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42866638C>T	ENST00000251268.6	+	34	5947	c.5947C>T	c.(5947-5949)Cga>Tga	p.R1983*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.R1916*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1983					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)				GATCAACCAGCGAGAGGTCTT	0.627																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5746-5748)Cga>Tga		multiple EGF-like-domains 8							117	100	106					19																	42866638		2203	4300	6503	SO:0001587	stop_gained	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42866638C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5947C>T	19.37:g.42866638C>T	ENSP00000251268:p.Arg1983*					MEGF8_ENST00000251268.6_Nonsense_Mutation_p.R1983*	p.R1916*	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			33	6381	+		Prostate(69;0.00682)	1983			PSI 4.		A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37	c.5746C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.208143	0.99784	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	5.43	3.27	0.37495	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7193	13.577	0.61879	0.2843:0.7157:0.0:0.0	.	.	.	.	X	1916;1983	.	ENSP00000251268:R1983X	R	+	1	2	MEGF8	47558478	1.000000	0.71417	0.999000	0.59377	0.065000	0.16274	2.282000	0.43461	0.658000	0.30925	-0.311000	0.09066	CGA		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		137	557	0	0	0	1	0	137	557					T	42866638	C	T	42866638	4	4	79	1	0	0	0	0	0	1	0	0	9504	760	27	1	5876	1	MEGF8	19	42866638	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3570	42866638	16262345	19310	29627											
MEGF8	1954	broad.mit.edu	37	chr19	42867301	42867301	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggtggaatcatcacccCcactgccctgccccacccct	7	21	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42867301C>T	ENST00000251268.6	+	35	6160	c.6160C>T	c.(6160-6162)Cca>Tca	p.P2054S	MEGF8_ENST00000334370.4_Missense_Mutation_p.P1987S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2054					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)				ATCATCACCCCCACTGCCCTG	0.622																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5959-5961)Cca>Tca		multiple EGF-like-domains 8							131	109	117					19																	42867301		2203	4299	6502	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42867301C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6160C>T	19.37:g.42867301C>T	ENSP00000251268:p.Pro2054Ser					MEGF8_ENST00000251268.6_Missense_Mutation_p.P2054S	p.P1987S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			34	6594	+		Prostate(69;0.00682)	2054					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.5959C>T		.	.	.	.	.	.	.	.	.	.	C	16.90	3.250896	0.59212	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000001	T	0.22589	0.0545	N	0.16790	0.44	0.80722	D	1	B;D	0.57571	0.006;0.98	B;P	0.50617	0.013;0.646	T	0.02307	-1.1179	10	0.49607	T	0.09	-9.6731	17.701	0.88294	0.0:1.0:0.0:0.0	.	2054;1987	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1987;2054	ENSP00000334219:P1987S;ENSP00000251268:P2054S	ENSP00000251268:P2054S	P	+	1	0	MEGF8	47559141	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	5.334000	0.65923	2.556000	0.86216	0.508000	0.49915	CCA		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		28	84	0	0	0	1	0	28	84					T	42867301	C	T	42867301	3	4	79	1	0	0	0	0	1	0	0	0	9504	623	22	2	6093	2	MEGF8	19	42867301	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	663	42867301	16261682	19311	29628											
MEGF8	1954	broad.mit.edu	37	chr19	42874461	42874461	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctccaggaaggagTtacaaatgtccaagggagag	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42874461T>C	ENST00000251268.6	+	39	6955	c.6955T>C	c.(6955-6957)Tta>Cta	p.L2319L	MEGF8_ENST00000334370.4_Silent_p.L2252L|MEGF8_ENST00000378073.4_5'UTR	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2319					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)				CAGGAAGGAGTTACAAATGTC	0.592																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6754-6756)Tta>Cta		multiple EGF-like-domains 8							39	36	37					19																	42874461		2203	4299	6502	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42874461T>C	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.6955T>C	19.37:g.42874461T>C						MEGF8_ENST00000378073.4_5'UTR|MEGF8_ENST00000251268.6_Silent_p.L2319L	p.L2252L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			38	7389	+		Prostate(69;0.00682)	2319					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6754T>C																																																																																					0.592	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		19	94	0	0	0	1	0	19	94					C	42874461	T	C	42874461	2	2	79	1	0	0	0	0	0	0	0	1	9504	1722	60	4		4	MEGF8	19	42874461	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	7160	42874461	16254522	19312	29629											
MEGF8	1954	broad.mit.edu	37	chr19	42880264	42880264	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggagacccaagtgggccCggcgccaacggctcagccga	16	14	1	1	rs572813671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42880264C>T	ENST00000251268.6	+	42	7875	c.7875C>T	c.(7873-7875)ccC>ccT	p.P2625P	MEGF8_ENST00000334370.4_Silent_p.P2558P|MEGF8_ENST00000378073.4_Silent_p.P219P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2625					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)				CAAGTGGGCCCGGCGCCAACG	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		14191	0.0		0.0	False		,,,				2504	0.001					ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(7672-7674)ccC>ccT		multiple EGF-like-domains 8							32	30	31					19																	42880264		2203	4299	6502	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42880264C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7875C>T	19.37:g.42880264C>T						MEGF8_ENST00000378073.4_Silent_p.P219P|MEGF8_ENST00000251268.6_Silent_p.P2625P	p.P2558P	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			41	8309	+		Prostate(69;0.00682)	2625			Pro-rich.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.7674C>T																																																																																					0.637	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		7	336	0	0	0	1	0	7	336					T	42880264	C	T	42880264	2	4	79	1	0	0	0	0	0	0	0	1	9504	639	23	1		1	MEGF8	19	42880264	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5803	42880264	16248719	19313	29630											
LIPE	3991	broad.mit.edu	37	chr19	42910490	42910490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagagccacggtgaagcagaGgttcccgcctgcactgtccc	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42910490G>T	ENST00000244289.4	-	7	2464	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	730					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)				GTGAAGCAGAGGTTCCCGCCT	0.657																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2188-2190)Ctc>Atc		lipase, hormone-sensitive							55	54	55					19																	42910490		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42910490G>T	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2188C>A	19.37:g.42910490G>T	ENSP00000244289:p.Leu730Ile					LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.L730I	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			7	2464	-		Prostate(69;0.00682)	730					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.2188C>A	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268992	0.80469	.	.	ENSG00000079435	ENST00000244289	T	0.19938	2.11	4.74	4.74	0.60224	Alpha/beta hydrolase fold-3 (1);	0.208552	0.30959	N	0.008530	T	0.39627	0.1085	M	0.88775	2.98	0.46901	D	0.999244	B	0.24920	0.114	B	0.34590	0.186	T	0.47209	-0.9135	10	0.62326	D	0.03	-21.1728	16.925	0.86174	0.0:0.0:1.0:0.0	.	730	Q05469	LIPS_HUMAN	I	730	ENSP00000244289:L730I	ENSP00000244289:L730I	L	-	1	0	LIPE	47602330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.180000	0.58296	2.367000	0.80283	0.579000	0.79373	CTC		0.657	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		46	220	1	0	6.17242e-35	1	7.35642e-35	46	220					T	42910490	G	T	42910490	3	4	79	1	0	0	0	0	1	0	0	0	8854	1000	35	3	1058	3	LIPE	19	42910490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30226	42910490	16218493	19314	29631											
LIPE	3991	broad.mit.edu	37	chr19	42911420	42911420	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggggccagggagtagtcGatggagatgatgggggcgcc	20	7	1	2	rs371461266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42911420G>A	ENST00000244289.4	-	6	2319	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	681					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)				GGGAGTAGTCGATGGAGATGA	0.662																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(2041-2043)atC>atT		lipase, hormone-sensitive		G		1,4405		0,1,2202	24	23	23		2043	-0.4	1	19		23	0,8596		0,0,4298	no	coding-synonymous	LIPE	NM_005357.2		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		681/1077	42911420	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42911420G>A	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2043C>T	19.37:g.42911420G>A						LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.I681I	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			6	2319	-		Prostate(69;0.00682)	681					Q3LRT2|Q6NSL7	Silent	SNP	ENST00000244289.4	37	c.2043C>T	CCDS12607.1																																																																																				0.662	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		8	69	0	0	0	1	0	8	69					A	42911420	G	A	42911420	2	1	79	1	0	0	0	0	0	0	0	1	8854	1048	37	1		1	LIPE	19	42911420	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	930	42911420	16217563	19315	29632											
PSG3	5671	broad.mit.edu	37	chr19	43233933	43233933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacaaaagatactcacagaGgacattcagggtgactgggt	12	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43233933G>A	ENST00000327495.5	-	4	1169	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	329					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)				TACTCACAGAGGACATTCAGG	0.488																																						ENST00000327495.5																			0				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						c.(985-987)Ctc>Ttc		pregnancy specific beta-1-glycoprotein 3							116	104	109					19																	43233933		1511	2707	4218	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233933G>A		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.985C>T	19.37:g.43233933G>A	ENSP00000332215:p.Leu329Phe					PSG3_ENST00000595140.1_Missense_Mutation_p.L329F	p.L329F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			4	1169	-		Prostate(69;0.00682)	329					Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.985C>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.300189	0.23650	.	.	ENSG00000221826	ENST00000327495	T	0.10960	2.82	1.36	-0.148	0.13424	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25644	0.0624	M	0.77103	2.36	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.986	T	0.12656	-1.0539	9	0.31617	T	0.26	.	4.6649	0.12660	0.0:0.4105:0.5895:0.0	.	307;329	Q08266;Q16557	.;PSG3_HUMAN	F	329	ENSP00000332215:L329F	ENSP00000332215:L329F	L	-	1	0	PSG3	47925773	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-1.655000	0.01982	0.696000	0.31696	0.400000	0.26472	CTC		0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		81	436	0	0	0	1	0	81	436					A	43233933	G	A	43233933	3	1	79	1	0	0	0	0	1	0	0	0	12703	1000	35	2	313	2	PSG3	19	43233933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	322513	43233933	15895050	19316	29633											
PSG8	440533	broad.mit.edu	37	chr19	43258660	43258660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccggtgggttagagtcCgcagaacaggacaagtagag	16	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43258660C>T	ENST00000306511.4	-	5	1165	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	PSG8_ENST00000404209.4_Silent_p.A356A|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Silent_p.A263A|PSG8_ENST00000406636.3_Silent_p.A234A	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	356	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGTTAGAGTCCGCAGAACAGG	0.453																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1066-1068)gcG>gcA		pregnancy specific beta-1-glycoprotein 8							126	139	135					19																	43258660		2203	4296	6499	SO:0001819	synonymous_variant	0					extracellular region		g.chr19:43258660C>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1068G>A	19.37:g.43258660C>T						PSG8_ENST00000406636.3_Silent_p.A234A|PSG8_ENST00000401467.2_Silent_p.A263A|PSG8_ENST00000306511.4_Silent_p.A356A|PSG8_ENST00000600709.1_5'UTR	p.A356A	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			5	1164	-		Prostate(69;0.00899)	356			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.1068G>A	CCDS33037.1																																																																																				0.453	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			36	1023	0	0	0	1	0	36	1023					T	43258660	C	T	43258660	2	4	79	1	0	0	0	0	0	0	0	1	12708	639	23	1		1	PSG8	19	43258660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24727	43258660	15870323	19317	29634											
PSG8	440533	broad.mit.edu	37	chr19	43259290	43259290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccctgggactgaccgggaGgctctgaccatttagccacc	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43259290G>A	ENST00000306511.4	-	4	935	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PSG8_ENST00000404209.4_Missense_Mutation_p.L280F|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F|PSG8_ENST00000406636.3_Missense_Mutation_p.L158F	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448																																						ENST00000404209.4																			1	Substitution - Missense(1)	p.L280I(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(838-840)Ctc>Ttc		pregnancy specific beta-1-glycoprotein 8							73	79	77					19																	43259290		2202	4280	6482	SO:0001583	missense	0					extracellular region		g.chr19:43259290G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.838C>T	19.37:g.43259290G>A	ENSP00000305005:p.Leu280Phe					PSG8_ENST00000406636.3_Missense_Mutation_p.L158F|PSG8_ENST00000401467.2_Missense_Mutation_p.L187F|PSG8_ENST00000306511.4_Missense_Mutation_p.L280F|PSG8_ENST00000600709.1_Intron	p.L280F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			4	934	-		Prostate(69;0.00899)	280			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.838C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	9.445	1.089014	0.20390	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	1.26	0.133	0.14766	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43875	0.1267	M	0.93550	3.43	0.09310	N	1	D;D;D;D;P;P	0.89917	0.997;1.0;1.0;0.999;0.482;0.538	D;D;D;D;B;P	0.97110	0.977;1.0;0.997;0.997;0.333;0.464	T	0.19289	-1.0310	9	0.62326	D	0.03	.	3.0739	0.06240	0.3293:0.0:0.6706:0.0	.	158;187;280;187;280;280	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	F	280;158;187;92;187;280	ENSP00000385869:L280F;ENSP00000385081:L158F;ENSP00000386090:L187F;ENSP00000305005:L280F	ENSP00000305005:L280F	L	-	1	0	PSG8	47951130	0.018000	0.18449	0.187000	0.23214	0.061000	0.15899	0.421000	0.21280	0.653000	0.30826	0.298000	0.19748	CTC		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			196	826	0	0	0	1	0	196	826					A	43259290	G	A	43259290	3	1	79	1	0	0	0	0	1	0	0	0	12708	1000	35	2	471	2	PSG8	19	43259290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	630	43259290	15869693	19318	29635											
PSG1	5669	broad.mit.edu	37	chr19	43372352	43372352	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgctttgtagtaatatggcGgataaagagcttttgtcctg	11	5	0	1	rs534643202		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372352G>A	ENST00000436291.2	-	5	1260	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	PSG1_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000244296.2_Missense_Mutation_p.R382C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C	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)				GTAATATGGCGGATAAAGAGC	0.463													.|||	1	0.000199681	0.0	0.0	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.0					ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1144-1146)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 1							188	195	193					19																	43372352		2201	4298	6499	SO:0001583	missense	0							g.chr19:43372352G>A		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.1144C>T	19.37:g.43372352G>A	ENSP00000413041:p.Arg382Cys					PSG1_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000436291.2_Missense_Mutation_p.R382C|PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C	p.R382C	NM_006905.2	NP_008836.2					5	1281	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1144C>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	10.39	1.337983	0.24253	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	1.07	1.07	0.20283	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22003	0.0530	M	0.64997	1.995	0.09310	N	1	P;D;P;D;P;D;D	0.60160	0.719;0.972;0.872;0.981;0.753;0.966;0.987	B;P;P;P;B;P;P	0.55011	0.443;0.655;0.69;0.69;0.371;0.717;0.766	T	0.08576	-1.0715	9	0.48119	T	0.1	.	5.469	0.16660	0.0:0.0:1.0:0.0	.	382;289;382;289;382;289;254	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	C	382;289;382;382	ENSP00000413041:R382C;ENSP00000385386:R289C;ENSP00000308970:R382C;ENSP00000244296:R382C	ENSP00000244296:R382C	R	-	1	0	PSG1	48064192	0.017000	0.18338	0.018000	0.16275	0.002000	0.02628	1.671000	0.37513	0.860000	0.35481	0.195000	0.17529	CGC		0.463	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			229	1158	0	0	0	1	0	229	1158					A	43372352	G	A	43372352	3	1	79	1	0	0	0	0	1	0	0	0	12700	1116	39	1	176	1	PSG1	19	43372352	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113062	43372352	15756631	19319	29636											
PSG1	5669	broad.mit.edu	37	chr19	43372370	43372370	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcggataaagagcttttgtcCtggtagctgaaacttttcat	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372370C>A	ENST00000436291.2	-	5	1242	c.1126G>T	c.(1126-1128)Gga>Tga	p.G376*	PSG1_ENST00000403380.3_Nonsense_Mutation_p.G283*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.G283*|PSG1_ENST00000244296.2_Nonsense_Mutation_p.G376*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.G376*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.G376*	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	376	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)				AGCTTTTGTCCTGGTAGCTGA	0.453																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1126-1128)Gga>Tga		pregnancy specific beta-1-glycoprotein 1							180	187	185					19																	43372370		2201	4298	6499	SO:0001587	stop_gained	0							g.chr19:43372370C>A		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.1126G>T	19.37:g.43372370C>A	ENSP00000413041:p.Gly376*					PSG1_ENST00000403380.3_Nonsense_Mutation_p.G283*|PSG1_ENST00000312439.6_Nonsense_Mutation_p.G376*|PSG1_ENST00000436291.2_Nonsense_Mutation_p.G376*|PSG1_ENST00000595124.1_Nonsense_Mutation_p.G283*|PSG1_ENST00000595356.1_Nonsense_Mutation_p.G376*	p.G376*	NM_006905.2	NP_008836.2					5	1263	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Nonsense_Mutation	SNP	ENST00000436291.2	37	c.1126G>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	15.23	2.772159	0.49680	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	.	.	.	1.63	0.478	0.16789	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.3649	0.07199	0.0:0.2662:0.0:0.7338	.	.	.	.	X	376;283;376;376	.	ENSP00000244296:G376X	G	-	1	0	PSG1	48064210	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.107000	0.15375	-0.087000	0.12528	0.195000	0.17529	GGA		0.453	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			198	1090	1	0	7.84169e-52	1	9.74292e-52	198	1090					A	43372370	C	A	43372370	4	1	79	1	0	0	0	0	0	1	0	0	12700	690	24	3	194	3	PSG1	19	43372370	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18	43372370	15756613	19320	29637											
PSG11	5680	broad.mit.edu	37	chr19	43519460	43519460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttgcgaagcaggacaagtCgaggttctctcctgaatagt	12	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43519460C>T	ENST00000401740.1	-	4	875	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG11_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000595312.1_5'Flank			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	256	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448																																						ENST00000401740.1																			1	Substitution - Missense(1)	p.D258Y(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(772-774)Gac>Aac		pregnancy specific beta-1-glycoprotein 11							133	143	139					19																	43519460		2200	4298	6498	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43519460C>T	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.772G>A	19.37:g.43519460C>T	ENSP00000384995:p.Asp258Asn					PSG11_ENST00000306322.7_Missense_Mutation_p.D136N|PSG11_ENST00000403486.1_Missense_Mutation_p.D136N|PSG11_ENST00000320078.7_Missense_Mutation_p.D258N	p.D258N			Q9UQ72	PSG11_HUMAN			4	875	-		Prostate(69;0.00682)	258			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.772G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0	-2.632536	0.00115	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	1.13	-2.25	0.06888	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03136	0.0092	N	0.04335	-0.225	0.09310	N	1	B;B	0.23249	0.041;0.082	B;B	0.26202	0.006;0.067	T	0.36432	-0.9748	9	0.02654	T	1	.	2.2582	0.04060	0.0:0.247:0.3096:0.4434	.	136;258	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	258;136;136;258	ENSP00000319140:D258N;ENSP00000385427:D136N;ENSP00000304913:D136N;ENSP00000384995:D258N	ENSP00000304913:D136N	D	-	1	0	PSG11	48211300	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.587000	0.05780	-1.694000	0.01425	-1.271000	0.01417	GAC		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		192	714	0	0	0	1	0	192	714					T	43519460	C	T	43519460	3	4	79	1	0	0	0	0	1	0	0	0	12701	884	31	1	243	1	PSG11	19	43519460	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147090	43519460	15609523	19321	29638											
PSG5	5673	broad.mit.edu	37	chr19	43679390	43679390	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agacttcgactgtcatggatTtggagctttccttgccagta	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43679390T>G	ENST00000366175.3	-	4	1071	c.941A>C	c.(940-942)aAa>aCa	p.K314T	PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Missense_Mutation_p.K314T|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	314	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTCATGGATTTGGAGCTTTC	0.458																																						ENST00000404580.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(940-942)aAa>aCa		pregnancy specific beta-1-glycoprotein 5							114	139	130					19																	43679390		2202	4294	6496	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679390T>G		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.941A>C	19.37:g.43679390T>G	ENSP00000382334:p.Lys314Thr					PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.K407T|PSG5_ENST00000366175.3_Missense_Mutation_p.K314T|PSG5_ENST00000342951.6_Missense_Mutation_p.K314T|PSG5_ENST00000407356.1_Missense_Mutation_p.K314T	p.K314T			Q15238	PSG5_HUMAN			4	1029	-		Prostate(69;0.00899)	314			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.941A>C	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.374823	0.00207	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	1.25	-0.00511	0.14018	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05273	0.0140	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.17722	0.019;0.006	T	0.43393	-0.9394	9	0.02654	T	1	.	4.6039	0.12366	0.0:0.0:0.626:0.374	.	407;314	Q15228;Q15238	.;PSG5_HUMAN	T	314	ENSP00000382334:K314T;ENSP00000386008:K314T;ENSP00000344413:K314T;ENSP00000385250:K314T	ENSP00000344413:K314T	K	-	2	0	PSG5	48371230	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.706000	0.05047	-0.160000	0.11002	-1.566000	0.00877	AAA		0.458	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		188	1002	0	0	0	1	0	188	1002					G	43679390	T	G	43679390	3	3	79	1	0	0	0	0	1	0	0	0	12705	1841	64	4	74	4	PSG5	19	43679390	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	159930	43679390	15449593	19322	29639											
PSG5	5673	broad.mit.edu	37	chr19	43689108	43689108	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccatatatatttatttgacCgtctactacatatgatgtaa	4	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43689108C>T	ENST00000366175.3	-	2	386	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000404580.1_Missense_Mutation_p.G86S|PSG5_ENST00000407356.1_Missense_Mutation_p.G86S			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	86	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTATTTGACCGTCTACTACA	0.438																																						ENST00000404580.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(256-258)Ggt>Agt		pregnancy specific beta-1-glycoprotein 5							264	253	257					19																	43689108		2203	4295	6498	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43689108C>T		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.256G>A	19.37:g.43689108C>T	ENSP00000382334:p.Gly86Ser					PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407568.1_Missense_Mutation_p.G86S|PSG5_ENST00000599812.1_Missense_Mutation_p.G86S|PSG5_ENST00000366175.3_Missense_Mutation_p.G86S|PSG5_ENST00000342951.6_Missense_Mutation_p.G86S|PSG5_ENST00000407356.1_Missense_Mutation_p.G86S	p.G86S			Q15238	PSG5_HUMAN			2	344	-		Prostate(69;0.00899)	86			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.256G>A	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	0.169	-1.073275	0.01918	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	1.56	-3.12	0.05282	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33294	0.0858	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.001;0.003	B;B;B;B	0.12156	0.007;0.007;0.002;0.004	T	0.20273	-1.0280	9	0.10377	T	0.69	.	4.6263	0.12479	0.0:0.511:0.218:0.2709	.	86;86;86;86	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	S	86	ENSP00000382334:G86S;ENSP00000386008:G86S;ENSP00000386053:G86S;ENSP00000344413:G86S;ENSP00000385250:G86S	ENSP00000344413:G86S	G	-	1	0	PSG5	48380948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.628000	0.02031	-1.539000	0.01732	-0.771000	0.03389	GGT		0.438	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		335	1395	0	0	0	1	0	335	1395					T	43689108	C	T	43689108	3	4	79	1	0	0	0	0	1	0	0	0	12705	652	23	1	767	1	PSG5	19	43689108	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9718	43689108	15439875	19323	29640											
PSG4	5672	broad.mit.edu	37	chr19	43698728	43698728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaatgaagggtaaatgCtggggaggtctggaccatct	16	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43698728C>A	ENST00000405312.3	-	5	1244	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	PSG4_ENST00000433626.2_Missense_Mutation_p.S243I|PSG4_ENST00000244295.9_Missense_Mutation_p.S243I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	336	Ig-like C2-type 3.				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)				AGGGTAAATGCTGGGGAGGTC	0.483																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(1006-1008)aGc>aTc		pregnancy specific beta-1-glycoprotein 4							129	136	134					19																	43698728		2201	4295	6496	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43698728C>A		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.1007G>T	19.37:g.43698728C>A	ENSP00000384770:p.Ser336Ile					PSG4_ENST00000244295.9_Missense_Mutation_p.S243I|PSG4_ENST00000433626.2_Missense_Mutation_p.S243I	p.S336I	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			5	1244	-		Prostate(69;0.00682)	336			Ig-like C2-type 3.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.1007G>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	2.508	-0.313692	0.05422	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626	T;T;T	0.11495	2.77;2.77;2.77	1.4	0.141	0.14811	Immunoglobulin-like (1);	.	.	.	.	T	0.10637	0.0260	N	0.13140	0.3	0.09310	N	1	B;B;B	0.32302	0.048;0.001;0.363	B;B;P	0.50896	0.189;0.005;0.653	T	0.51356	-0.8716	9	0.17369	T	0.5	.	5.4507	0.16563	0.0:0.389:0.611:0.0	.	243;243;336	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	I	243;336;243	ENSP00000244295:S243I;ENSP00000384770:S336I;ENSP00000387864:S243I	ENSP00000244295:S243I	S	-	2	0	PSG4	48390568	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.180000	0.03088	-0.099000	0.12263	-0.551000	0.04211	AGC		0.483	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		188	800	1	0	2.04701e-75	1	2.61054e-75	188	800					A	43698728	C	A	43698728	3	1	79	1	0	0	0	0	1	0	0	0	12704	797	28	3	260	3	PSG4	19	43698728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9620	43698728	15430255	19324	29641											
PSG9	5678	broad.mit.edu	37	chr19	43763286	43763286	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atgtaggggatgggcagcttCgctgtgtggataacagagag	17	5	0	1	rs4028446		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	ENST00000270077.3	-	4	807	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144S|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Splice_Site_p.S144S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	237					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493																																						ENST00000418820.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e3-1		pregnancy specific beta-1-glycoprotein 9																																				SO:0001630	splice_region_variant	5678				female pregnancy	extracellular region		g.chr19:43763286C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.710-1G>A	19.37:g.43763286C>T						PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Splice_Site_p.S144_splice|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237_splice|PSG9_ENST00000291752.5_Intron	p.S144_splice			Q00887	PSG9_HUMAN			3	530	-		Prostate(69;0.00682)	144			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Splice_Site	SNP	ENST00000270077.3	37	c.430_splice	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	0.170	-1.072691	0.01918	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.39	-2.77	0.05877	.	.	.	.	.	T	0.18800	0.0451	.	.	.	0.20196	N	0.999921	.	.	.	.	.	.	T	0.25398	-1.0133	4	.	.	.	.	2.0306	0.03528	0.2555:0.3247:0.0:0.4198	rs4028446	.	.	.	Q	131	.	.	R	-	2	0	PSG9	48455126	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-1.242000	0.02908	-0.656000	0.05380	-1.031000	0.02408	CGA		0.493	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	Silent	172	988	0	0	0	1	0	172	988					T	43763286	C	T	43763286	5	4	79	1	0	0	0	0	0	0	1	0	12709	898	31	1	581	1	PSG9	19	43763286	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64558	43763286	15365697	19325	29642											
PSG9	5678	broad.mit.edu	37	chr19	43766205	43766205	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggtagcttgcgtccagagtCtcaggatcacagattaagcg	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43766205C>T	ENST00000270077.3	-	3	612	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PSG9_ENST00000244293.7_Silent_p.E172E|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	172	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGTCCAGAGTCTCAGGATCAC	0.527																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(514-516)gaG>gaA		pregnancy specific beta-1-glycoprotein 9							241	234	236					19																	43766205		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766205C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.516G>A	19.37:g.43766205C>T						PSG9_ENST00000593948.1_Silent_p.E172E|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Silent_p.E172E|PSG9_ENST00000291752.5_Intron	p.E172E			Q00887	PSG9_HUMAN			3	582	-		Prostate(69;0.00682)	172			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.516G>A	CCDS12618.1																																																																																				0.527	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		294	1216	0	0	0	1	0	294	1216					T	43766205	C	T	43766205	2	4	79	1	0	0	0	0	0	0	0	1	12709	912	32	2		2	PSG9	19	43766205	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2919	43766205	15362778	19326	29643											
CD177	57126	broad.mit.edu	37	chr19	43858420	43858420	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggaccaggagccccgCgtcactgagcaccggatggg	15	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858420C>T	ENST00000607517.1	+	0	311				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGGAGCCCCGCGTCACTGAGC	0.647																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							39	51	47					19																	43858420		2009	4162	6171			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43858420C>T	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858420C>T						CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	297	+		Prostate(69;0.00682)						Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	RNA	SNP	ENST00000607517.1	37																																																																																						0.647	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		43	178	0	0	0	1	0	43	178					T	43858420	C	T	43858420	1	4	79	0	1	0	0	0	0	0	0	0	2980	755	27	1		1	CD177	19	43858420	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92215	43858420	15270563	19327	29644											
CD177	57126	broad.mit.edu	37	chr19	43858441	43858441	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcactgagcaccggatgggCcccggcctctccctgatctc	11	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858441C>A	ENST00000607517.1	+	0	332				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACCGGATGGGCCCCGGCCTCT	0.657																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule							44	56	52					19																	43858441		2003	4150	6153			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43858441C>A	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858441C>A						CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA		NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN			0	318	+		Prostate(69;0.00682)						Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	RNA	SNP	ENST00000607517.1	37																																																																																						0.657	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		46	211	1	0	5.48756e-27	1	6.34209e-27	46	211					A	43858441	C	A	43858441	1	1	79	0	1	0	0	0	0	0	0	0	2980	726	26	3		3	CD177	19	43858441	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21	43858441	15270542	19328	29645											
PHLDB3	653583	broad.mit.edu	37	chr19	43998922	43998922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcggagtgggccacggcatCctggagcaccagcagctggc	16	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43998922C>A	ENST00000292140.5	-	9	1441	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	361							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCCACGGCATCCTGGAGCACC	0.612																																						ENST00000292140.5																			0				breast(1)|central_nervous_system(1)|lung(5)	7						c.(1081-1083)Gat>Tat		pleckstrin homology-like domain, family B, member 3							38	47	44					19																	43998922		2096	4232	6328	SO:0001583	missense	653583							g.chr19:43998922C>A		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1081G>T	19.37:g.43998922C>A	ENSP00000292140:p.Asp361Tyr						p.D361Y	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN			9	1441	-		Prostate(69;0.0153)	361					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.1081G>T	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646014	0.47258	.	.	ENSG00000176531	ENST00000292140	T	0.52526	0.66	4.6	4.6	0.57074	.	.	.	.	.	T	0.56232	0.1971	L	0.29908	0.895	0.33992	D	0.649202	D;D	0.89917	0.986;1.0	P;D	0.83275	0.579;0.996	T	0.66705	-0.5856	9	0.56958	D	0.05	.	13.3415	0.60547	0.0:1.0:0.0:0.0	.	65;361	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	Y	361	ENSP00000292140:D361Y	ENSP00000292140:D361Y	D	-	1	0	PHLDB3	48690762	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.744000	0.55112	2.266000	0.75297	0.460000	0.39030	GAT		0.612	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			5	97	1	0	1	1	1	5	97					A	43998922	C	A	43998922	3	1	79	1	0	0	0	0	1	0	0	0	11895	855	30	3	873	3	PHLDB3	19	43998922	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140481	43998922	15130061	19329	29646											
ETHE1	23474	broad.mit.edu	37	chr19	44015646	44015646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcatctccagtgaaggCcatgctgtggtcattcagga	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44015646C>T	ENST00000292147.2	-	4	514	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	ETHE1_ENST00000600651.1_Missense_Mutation_p.A150T	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	150					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CCAGTGAAGGCCATGCTGTGG	0.572																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(448-450)Gcc>Acc		ethylmalonic encephalopathy 1							103	76	85					19																	44015646		2203	4300	6503	SO:0001583	missense	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44015646C>T		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.448G>A	19.37:g.44015646C>T	ENSP00000292147:p.Ala150Thr					ETHE1_ENST00000292147.2_Missense_Mutation_p.A150T	p.A150T			O95571	ETHE1_HUMAN			4	471	-		Prostate(69;0.0153)	150					Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	37	c.448G>A	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400492	0.96030	.	.	ENSG00000105755	ENST00000292147	T	0.80824	-1.42	5.04	5.04	0.67666	Beta-lactamase-like (2);	0.056346	0.64402	D	0.000002	D	0.92476	0.7611	H	0.95470	3.675	0.58432	D	0.999999	D;D	0.76494	0.992;0.999	P;D	0.72075	0.823;0.976	D	0.93924	0.7208	10	0.62326	D	0.03	-1.0203	16.3468	0.83138	0.0:1.0:0.0:0.0	.	123;150	B2RCZ7;O95571	.;ETHE1_HUMAN	T	150	ENSP00000292147:A150T	ENSP00000292147:A150T	A	-	1	0	ETHE1	48707486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.703000	0.74633	2.808000	0.96608	0.549000	0.68633	GCC		0.572	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		34	219	0	0	0	1	0	34	219					T	44015646	C	T	44015646	3	4	79	1	0	0	0	0	1	0	0	0	5290	739	26	2	332	2	ETHE1	19	44015646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16724	44015646	15113337	19330	29647											
XRCC1	7515	broad.mit.edu	37	chr19	44056975	44056975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctcttgggaacagatggcGacagctgggctggtggtttg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44056975G>A	ENST00000262887.5	-	8	1344	c.797C>T	c.(796-798)tCg>tTg	p.S266L	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	266					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AACAGATGGCGACAGCTGGGC	0.562								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(796-798)tCg>tTg	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							145	148	147					19																	44056975		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44056975G>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.797C>T	19.37:g.44056975G>A	ENSP00000262887:p.Ser266Leu					XRCC1_ENST00000543982.1_Missense_Mutation_p.S235L	p.S266L			P18887	XRCC1_HUMAN			8	1344	-		Prostate(69;0.0153)	266					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.797C>T	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	2.030	-0.422592	0.04734	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.03124	4.07;4.04	4.35	-3.95	0.04118	.	2.105260	0.02044	N	0.049529	T	0.02767	0.0083	N	0.21448	0.665	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.06405	0.002;0.001	T	0.43972	-0.9358	10	0.27082	T	0.32	2.3862	4.5857	0.12280	0.4721:0.0:0.377:0.1509	.	235;266	F5H8D7;P18887	.;XRCC1_HUMAN	L	280;266;235;266	ENSP00000262887:S266L;ENSP00000443671:S235L	ENSP00000262887:S266L	S	-	2	0	XRCC1	48748815	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.192000	0.17096	-0.318000	0.08665	-1.326000	0.01283	TCG		0.562	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		53	225	0	0	0	1	0	53	225					A	44056975	G	A	44056975	3	1	79	1	0	0	0	0	1	0	0	0	17506	1059	37	1	1144	1	XRCC1	19	44056975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	41329	44056975	15072008	19331	29648											
IRGQ	126298	broad.mit.edu	37	chr19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccgaagcaggcgcagCgcctgggtcgccaggatcca	17	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44097296C>T	ENST00000602269.1	-	2	939	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000422989.1_Missense_Mutation_p.A252T|L34079.2_ENST00000594374.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(754-756)Gct>Act		immunity-related GTPase family, Q							28	33	31					19																	44097296		2201	4298	6499	SO:0001583	missense	126298						protein binding	g.chr19:44097296C>T	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.754G>A	19.37:g.44097296C>T	ENSP00000472250:p.Ala252Thr					IRGQ_ENST00000602269.1_Missense_Mutation_p.A252T	p.A252T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	909	-		Prostate(69;0.0199)	252					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.754G>A	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849297	0.51270	.	.	ENSG00000167378	ENST00000422989	T	0.66460	-0.21	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000001	T	0.76842	0.4044	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.72338	0.977	T	0.67360	-0.5690	10	0.66056	D	0.02	-20.4241	10.9344	0.47237	0.0:0.8108:0.1892:0.0	.	252	Q8WZA9	IRGQ_HUMAN	T	252	ENSP00000387535:A252T	ENSP00000387535:A252T	A	-	1	0	IRGQ	48789136	0.626000	0.27120	0.182000	0.23118	0.348000	0.29142	3.325000	0.52030	2.782000	0.95742	0.655000	0.94253	GCT		0.692	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		57	245	0	0	0	1	0	57	245					T	44097296	C	T	44097296	3	4	79	1	0	0	0	0	1	0	0	0	7869	768	27	1	1121	1	IRGQ	19	44097296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40321	44097296	15031687	19332	29649											
ZNF576	79177	broad.mit.edu	37	chr19	44101344	44101344	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagagcccaggaggcaacatCtgtgagtacacatggctggc	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44101344C>T	ENST00000336564.4	+	2	238	c.84C>T	c.(82-84)atC>atT	p.I28I	IRGQ_ENST00000422989.1_5'Flank|ZNF576_ENST00000533118.1_Splice_Site_p.I28I|ZNF576_ENST00000525771.1_Splice_Site_p.I28I|ZNF576_ENST00000528387.1_Splice_Site_p.I28I|SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000529930.1_Splice_Site_p.I28I|IRGQ_ENST00000602269.1_5'Flank|SRRM5_ENST00000607544.1_5'UTR|ZNF576_ENST00000391965.2_Splice_Site_p.I28I	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	28					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)				GAGGCAACATCTGTGAGTACA	0.577																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.e2+1		zinc finger protein 576							89	81	83					19																	44101344		2203	4300	6503	SO:0001630	splice_region_variant	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44101344C>T	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.85+1C>T	19.37:g.44101344C>T						SRRM5_ENST00000526798.1_5'UTR|ZNF576_ENST00000525771.1_Splice_Site_p.I28_splice|ZNF576_ENST00000391965.2_Splice_Site_p.I28_splice|ZNF576_ENST00000529930.1_Splice_Site_p.I28_splice|ZNF576_ENST00000533118.1_Splice_Site_p.I28_splice|ZNF576_ENST00000528387.1_Splice_Site_p.I28_splice|SRRM5_ENST00000607544.1_5'UTR	p.I28_splice	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			2	238	+		Prostate(69;0.0199)	28					Q9BU03	Splice_Site	SNP	ENST00000336564.4	37	c.85_splice	CCDS12625.1																																																																																				0.577	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327	Silent	67	204	0	0	0	1	0	67	204					T	44101344	C	T	44101344	5	4	79	1	0	0	0	0	0	0	1	0	18061	927	32	2	86	2	ZNF576	19	44101344	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4048	44101344	15027639	19333	29650											
KCNN4	3783	broad.mit.edu	37	chr19	44278573	44278573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcatggccagggacaGcagcgcttccccttggccca	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44278573G>A	ENST00000262888.3	-	3	849	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	152					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)	GCCAGGGACAGCAGCGCTTCC	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(454-456)Ctg>Ttg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						12	13	13					19																	44278573		2183	4287	6470	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44278573G>A	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.454C>T	19.37:g.44278573G>A			OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922		p.L152L	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			3	849	-		Prostate(69;0.0352)	152					Q53XR4	Silent	SNP	ENST00000262888.3	37	c.454C>T	CCDS12630.1																																																																																				0.731	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		13	59	0	0	0	1	0	13	59					A	44278573	G	A	44278573	2	1	79	1	0	0	0	0	0	0	0	1	8111	962	34	2		2	KCNN4	19	44278573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177229	44278573	14850410	19334	29651											
KCNN4	3783	broad.mit.edu	37	chr19	44285001	44285001	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcccccaggccaagcaccaGatccccgcccatggcccccg	10	22	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44285001G>A	ENST00000262888.3	-	1	408	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	5					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)	CCAAGCACCAGATCCCCGCCC	0.687																																						ENST00000262888.3																			0				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(13-15)Ctg>Ttg		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						61	61	61					19																	44285001		2203	4300	6503	SO:0001819	synonymous_variant	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44285001G>A	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.13C>T	19.37:g.44285001G>A							p.L5L	NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN			1	408	-		Prostate(69;0.0352)	5					Q53XR4	Silent	SNP	ENST00000262888.3	37	c.13C>T	CCDS12630.1																																																																																				0.687	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		12	523	0	0	0	1	0	12	523					A	44285001	G	A	44285001	2	1	79	1	0	0	0	0	0	0	0	1	8111	933	33	2		2	KCNN4	19	44285001	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6428	44285001	14843982	19335	29652											
ZNF45	7596	broad.mit.edu	37	chr19	44418337	44418337	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttaccacatgcatcacaCtgatacggtttctctccagt	5	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44418337C>T	ENST00000269973.5	-	10	2341	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.Q417Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	417					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCATCACACTGATACGGTT	0.468																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1249-1251)caG>caA		zinc finger protein 45							89	85	86					19																	44418337		2203	4300	6503	SO:0001819	synonymous_variant	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44418337C>T	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1251G>A	19.37:g.44418337C>T						RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.Q417Q	p.Q417Q	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	2341	-			417					P17016|P78472|Q9P1U9	Silent	SNP	ENST00000269973.5	37	c.1251G>A	CCDS12632.1																																																																																				0.468	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		80	404	0	0	0	1	0	80	404					T	44418337	C	T	44418337	2	4	79	1	0	0	0	0	0	0	0	1	17974	564	20	2		2	ZNF45	19	44418337	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133336	44418337	14710646	19336	29653											
ZNF221	7638	broad.mit.edu	37	chr19	44470613	44470613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatgtggtaagagcttccGtgttagatcaagacttaata	9	5	1	3	rs140615014	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44470613G>A	ENST00000251269.5	+	6	1287	c.959G>A	c.(958-960)cGt>cAt	p.R320H	ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H|ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGAGCTTCCGTGTTAGATCA	0.413													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		23266	0.0		0.0	False		,,,				2504	0.0					ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(958-960)cGt>cAt		zinc finger protein 221		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	165	164	164		959	-1.7	0	19	dbSNP_134	164	0,8600		0,0,4300	yes	missense	ZNF221	NM_013359.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	320/618	44470613	1,13005	2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470613G>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.959G>A	19.37:g.44470613G>A	ENSP00000251269:p.Arg320His					ZNF221_ENST00000592350.1_Missense_Mutation_p.R320H|ZNF221_ENST00000587682.1_Missense_Mutation_p.R320H	p.R320H	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	1287	+		Prostate(69;0.0352)	320					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.959G>A	CCDS12633.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	g	11.78	1.740126	0.30865	2.27E-4	0.0	ENSG00000159905	ENST00000251269	T	0.07567	3.18	2.59	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.21617	0.685	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.43376	-0.9395	9	0.29301	T	0.29	.	4.6045	0.12371	0.2389:0.3438:0.4173:0.0	.	320	Q9UK13	ZN221_HUMAN	H	320	ENSP00000251269:R320H	ENSP00000251269:R320H	R	+	2	0	ZNF221	49162453	0.000000	0.05858	0.000000	0.03702	0.980000	0.70556	-0.269000	0.08596	-0.021000	0.14009	0.462000	0.41574	CGT		0.413	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			165	735	0	0	0	1	0	165	735					A	44470613	G	A	44470613	3	1	79	1	0	0	0	0	1	0	0	0	17828	1145	40	1	973	1	ZNF221	19	44470613	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52276	44470613	14658370	19337	29654											
ZNF221	7638	broad.mit.edu	37	chr19	44471258	44471258	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tactggagaaaagctatacaAatgtgagcagtgtgagaagg	13	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44471258A>C	ENST00000251269.5	+	6	1932	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T|ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGCTATACAAATGTGAGCAG	0.433																																						ENST00000251269.5																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1603-1605)aAa>aCa		zinc finger protein 221							94	88	90					19																	44471258		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471258A>C	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1604A>C	19.37:g.44471258A>C	ENSP00000251269:p.Lys535Thr					ZNF221_ENST00000592350.1_Missense_Mutation_p.K535T|ZNF221_ENST00000587682.1_Missense_Mutation_p.K535T	p.K535T	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN			6	1932	+		Prostate(69;0.0352)	535					B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1604A>C	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	a	14.11	2.437523	0.43224	.	.	ENSG00000159905	ENST00000251269	T	0.08458	3.09	2.9	2.9	0.33743	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19127	0.0459	L	0.49699	1.58	0.09310	N	1	D	0.71674	0.998	D	0.75020	0.985	T	0.04065	-1.0980	9	0.54805	T	0.06	.	7.2124	0.25941	0.7731:0.2269:0.0:0.0	.	535	Q9UK13	ZN221_HUMAN	T	535	ENSP00000251269:K535T	ENSP00000251269:K535T	K	+	2	0	ZNF221	49163098	0.000000	0.05858	0.009000	0.14445	0.233000	0.25261	-0.227000	0.09126	1.319000	0.45190	0.379000	0.24179	AAA		0.433	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			94	397	0	0	0	1	0	94	397					C	44471258	A	C	44471258	3	2	79	1	0	0	0	0	1	0	0	0	17828	14	1	4	1618	4	ZNF221	19	44471258	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	645	44471258	14657725	19338	29655											
ZNF155	7711	broad.mit.edu	37	chr19	44501451	44501451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagagactccactgccagaAaaaaccattcaaatgtgagg	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44501451A>C	ENST00000270014.2	+	5	1570	c.1442A>C	c.(1441-1443)aAa>aCa	p.K481T	RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CACTGCCAGAAAAAACCATTC	0.453																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(1441-1443)aAa>aCa		zinc finger protein 155							89	95	93					19																	44501451		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501451A>C	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1442A>C	19.37:g.44501451A>C	ENSP00000270014:p.Lys481Thr					RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.K492T|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.K481T	p.K481T	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			5	1570	+		Prostate(69;0.0352)	481					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.1442A>C	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554531	0.45487	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.11277	2.79;2.79	2.83	2.83	0.33086	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	N	0.25380	0.74	0.09310	N	1	P;P	0.42296	0.775;0.605	P;P	0.51297	0.665;0.665	T	0.12811	-1.0533	9	0.87932	D	0	.	10.1978	0.43065	1.0:0.0:0.0:0.0	.	492;481	B4DM95;Q12901	.;ZN155_HUMAN	T	492;481	ENSP00000385163:K492T;ENSP00000270014:K481T	ENSP00000270014:K481T	K	+	2	0	ZNF155	49193291	0.988000	0.35896	0.005000	0.12908	0.083000	0.17756	3.462000	0.53042	1.279000	0.44446	0.459000	0.35465	AAA		0.453	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		143	600	0	0	0	1	0	143	600					C	44501451	A	C	44501451	3	2	79	1	0	0	0	0	1	0	0	0	17789	14	1	4	1456	4	ZNF155	19	44501451	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30193	44501451	14627532	19339	29656											
ZNF230	7773	broad.mit.edu	37	chr19	44514566	44514566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgatgtcccctcccaGgttgaggcaggactatctat	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44514566G>T	ENST00000429154.2	+	5	603	c.375G>T	c.(373-375)caG>caT	p.Q125H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	125	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCCCTCCCAGGTTGAGGCAG	0.438																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(373-375)caG>caT		zinc finger protein 230							102	96	98					19																	44514566		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44514566G>T	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.375G>T	19.37:g.44514566G>T	ENSP00000409318:p.Gln125His						p.Q125H	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	603	+		Prostate(69;0.0352)	125			KRNB.		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.375G>T	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465658	0.26335	.	.	ENSG00000159882	ENST00000429154	T	0.05580	3.42	2.36	1.11	0.20524	.	.	.	.	.	T	0.03871	0.0109	N	0.17345	0.48	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.39901	-0.9591	9	0.36615	T	0.2	.	5.4808	0.16723	0.0:0.0:0.6706:0.3294	.	125	Q9UIE0	ZN230_HUMAN	H	125	ENSP00000409318:Q125H	ENSP00000409318:Q125H	Q	+	3	2	ZNF230	49206406	0.000000	0.05858	0.003000	0.11579	0.608000	0.37181	-0.729000	0.04920	1.299000	0.44798	0.205000	0.17691	CAG		0.438	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			67	327	1	0	3.13765e-25	1	3.59736e-25	67	327					T	44514566	G	T	44514566	3	4	79	1	0	0	0	0	1	0	0	0	17837	991	35	3	389	3	ZNF230	19	44514566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13115	44514566	14614417	19340	29657											
ZNF230	7773	broad.mit.edu	37	chr19	44515396	44515396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgtgggaagagctttaGccgggcttcaagtattttga	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44515396G>A	ENST00000429154.2	+	5	1433	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	402					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)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAGAGCTTTAGCCGGGCTTCA	0.443																																					GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1204-1206)aGc>aAc		zinc finger protein 230							82	86	84					19																	44515396		2203	4300	6503	SO:0001583	missense	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515396G>A	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1205G>A	19.37:g.44515396G>A	ENSP00000409318:p.Ser402Asn						p.S402N	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1433	+		Prostate(69;0.0352)	402					O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	ENST00000429154.2	37	c.1205G>A	CCDS33044.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217466	0.39201	.	.	ENSG00000159882	ENST00000429154	T	0.07567	3.18	2.33	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.17474	0.49	0.21499	N	0.999666	B	0.28584	0.216	B	0.28784	0.094	T	0.42849	-0.9427	9	0.20046	T	0.44	.	4.8412	0.13491	0.0:0.236:0.5236:0.2404	.	402	Q9UIE0	ZN230_HUMAN	N	402	ENSP00000409318:S402N	ENSP00000409318:S402N	S	+	2	0	ZNF230	49207236	0.000000	0.05858	0.539000	0.28077	0.880000	0.50808	0.098000	0.15189	1.280000	0.44463	0.205000	0.17691	AGC		0.443	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			118	554	0	0	0	1	0	118	554					A	44515396	G	A	44515396	3	1	79	1	0	0	0	0	1	0	0	0	17837	971	34	2	1219	2	ZNF230	19	44515396	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	830	44515396	14613587	19341	29658											
ZNF224	7767	broad.mit.edu	37	chr19	44605038	44605038	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgctcagaggaagctgtatCgagatgtgatgctggagaac	14	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44605038C>T	ENST00000336976.6	+	4	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*	AC084219.3_ENST00000591772.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)				GAAGCTGTATCGAGATGTGAT	0.537																																						ENST00000336976.6																			0				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						c.(100-102)Cga>Tga		zinc finger protein 224							213	193	200					19																	44605038		2203	4300	6503	SO:0001587	stop_gained	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44605038C>T	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.100C>T	19.37:g.44605038C>T	ENSP00000337368:p.Arg34*						p.R34*	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			4	354	+		Prostate(69;0.0435)	34			KRAB.		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Nonsense_Mutation	SNP	ENST00000336976.6	37	c.100C>T	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	c	16.45	3.127151	0.56721	.	.	ENSG00000186019	ENST00000336976;ENST00000269981	.	.	.	2.75	1.54	0.23209	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4372	0.32795	0.2317:0.7683:0.0:0.0	.	.	.	.	X	34	.	ENSP00000269981:R34X	R	+	1	2	ZNF224	49296878	0.001000	0.12720	0.107000	0.21349	0.011000	0.07611	-0.383000	0.07398	1.521000	0.48983	0.585000	0.79938	CGA		0.537	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		185	758	0	0	0	1	0	185	758					T	44605038	C	T	44605038	4	4	79	1	0	0	0	0	0	1	0	0	17831	876	31	1	106	1	ZNF224	19	44605038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89642	44605038	14523945	19342	29659											
ZNF224	7767	broad.mit.edu	37	chr19	44612103	44612103	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cactggagaaaagccatacaAatgtgatgagtgtgggaagg	14	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44612103A>C	ENST00000336976.6	+	6	2044	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	597					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)				AAGCCATACAAATGTGATGAG	0.463																																						ENST00000336976.6																			0				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						c.(1789-1791)aAa>aCa		zinc finger protein 224							86	88	87					19																	44612103		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44612103A>C	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.1790A>C	19.37:g.44612103A>C	ENSP00000337368:p.Lys597Thr					AC084219.4_ENST00000592946.1_RNA	p.K597T	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN			6	2044	+		Prostate(69;0.0435)	597					A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.1790A>C	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	a	13.25	2.180398	0.38511	.	.	ENSG00000186019	ENST00000336976	T	0.18810	2.19	2.93	0.748	0.18376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14056	0.0340	L	0.52266	1.64	0.09310	N	1	P	0.38729	0.644	B	0.30572	0.117	T	0.16689	-1.0394	9	0.41790	T	0.15	.	3.5138	0.07717	0.5603:0.1998:0.2399:0.0	.	597	Q9NZL3	ZN224_HUMAN	T	597	ENSP00000337368:K597T	ENSP00000337368:K597T	K	+	2	0	ZNF224	49303943	0.000000	0.05858	0.004000	0.12327	0.696000	0.40369	-2.518000	0.00953	-0.024000	0.13941	0.482000	0.46254	AAA		0.463	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	NM_013398		99	355	0	0	0	1	0	99	355					C	44612103	A	C	44612103	3	2	79	1	0	0	0	0	1	0	0	0	17831	14	1	4	1804	4	ZNF224	19	44612103	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7065	44612103	14516880	19343	29660											
ZNF225	7768	broad.mit.edu	37	chr19	44622685	44622685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acttcctaaaggaagaaaagTtttggatgatggagacagca	11	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44622685T>G	ENST00000262894.6	+	4	473	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	ZNF225_ENST00000592780.1_Missense_Mutation_p.F65V|ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)				GGAAGAAAAGTTTTGGATGAT	0.428																																						ENST00000592780.1																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(193-195)Ttt>Gtt		zinc finger protein 225							79	76	77					19																	44622685		2203	4300	6503	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44622685T>G	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.193T>G	19.37:g.44622685T>G	ENSP00000262894:p.Phe65Val					ZNF225_ENST00000262894.6_Missense_Mutation_p.F65V|ZNF225_ENST00000590612.1_Missense_Mutation_p.F65V	p.F65V			Q9UK10	ZN225_HUMAN			4	414	+		Prostate(69;0.0352)|all_neural(266;0.202)	65			KRAB.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.193T>G	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	T	1.494	-0.553791	0.03996	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.06068	3.35	1.93	-0.787	0.10943	Krueppel-associated box (2);	.	.	.	.	T	0.02304	0.0071	N	0.03268	-0.37	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.48514	-0.9029	9	0.16420	T	0.52	.	4.2847	0.10850	0.0:0.4979:0.0:0.5021	.	65	Q9UK10	ZN225_HUMAN	V	65;29	ENSP00000262894:F65V	ENSP00000262894:F65V	F	+	1	0	ZNF225	49314525	0.540000	0.26410	0.001000	0.08648	0.007000	0.05969	0.479000	0.22228	-0.130000	0.11599	0.454000	0.30748	TTT		0.428	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			42	211	0	0	0	1	0	42	211					G	44622685	T	G	44622685	3	3	79	1	0	0	0	0	1	0	0	0	17832	1725	60	4	203	4	ZNF225	19	44622685	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10582	44622685	14506298	19344	29661											
ZNF225	7768	broad.mit.edu	37	chr19	44636026	44636026	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaacgttattctcaccagaGagcgcacagtggagaaaagc	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636026G>T	ENST00000262894.6	+	5	1539	c.1259G>T	c.(1258-1260)aGa>aTa	p.R420I	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	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)			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)				TCTCACCAGAGAGCGCACAGT	0.453																																						ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1258-1260)aGa>aTa		zinc finger protein 225							100	105	103					19																	44636026		2197	4297	6494	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636026G>T	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.1259G>T	19.37:g.44636026G>T	ENSP00000262894:p.Arg420Ile					ZNF225_ENST00000590612.1_Missense_Mutation_p.R420I|ZNF225_ENST00000592780.1_3'UTR	p.R420I	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1539	+		Prostate(69;0.0352)|all_neural(266;0.202)	420					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1259G>T	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619663	0.46736	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.24908	1.83	2.65	-5.3	0.02738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	M	0.71036	2.16	0.09310	N	1	D	0.53462	0.96	P	0.44673	0.457	T	0.07849	-1.0751	9	0.59425	D	0.04	.	4.1269	0.10131	0.2968:0.0:0.3695:0.3337	.	420	Q9UK10	ZN225_HUMAN	I	420;384	ENSP00000262894:R420I	ENSP00000262894:R420I	R	+	2	0	ZNF225	49327866	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.654000	0.01984	-1.272000	0.02427	-0.314000	0.08810	AGA		0.453	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			114	447	1	0	9.16818e-52	1	1.13871e-51	114	447					T	44636026	G	T	44636026	3	4	79	1	0	0	0	0	1	0	0	0	17832	942	33	3	1273	3	ZNF225	19	44636026	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13341	44636026	14492957	19345	29662											
ZNF225	7768	broad.mit.edu	37	chr19	44636174	44636174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagctttggctgggcctcGtgtcttttgaatcatcagag	12	8	3	3	rs145291466	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636174G>A	ENST00000262894.6	+	5	1687	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Silent_p.S469S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	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)			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)				GCTGGGCCTCGTGTCTTTTGA	0.413													A|||	3	0.000599042	0.0023	0.0	5008	,	,		19960	0.0		0.0	False		,,,				2504	0.0					ENST00000262894.6																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1405-1407)tcG>tcA		zinc finger protein 225		A		15,4387	800.4+/-415.6	0,15,2186	67	72	71		1407	-3.4	0	19	dbSNP_134	71	0,8598		0,0,4299	no	coding-synonymous	ZNF225	NM_013362.2		0,15,6485	AA,AG,GG		0.0,0.3408,0.1154		469/707	44636174	15,12985	2201	4299	6500	SO:0001819	synonymous_variant	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636174G>A	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.1407G>A	19.37:g.44636174G>A						ZNF225_ENST00000590612.1_Silent_p.S469S|ZNF225_ENST00000592780.1_3'UTR	p.S469S	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	1687	+		Prostate(69;0.0352)|all_neural(266;0.202)	469					A8K8S2|Q53F12|Q9NS46|Q9UID8	Silent	SNP	ENST00000262894.6	37	c.1407G>A	CCDS46100.1																																																																																				0.413	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			99	381	0	0	0	1	0	99	381					A	44636174	G	A	44636174	2	1	79	1	0	0	0	0	0	0	0	1	17832	1132	40	1		1	ZNF225	19	44636174	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148	44636174	14492809	19346	29663											
ZNF225	7768	broad.mit.edu	37	chr19	44636716	44636716	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gagactccacagtagagaaaAactacttcaatgtgaggact	9	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636716A>C	ENST00000262894.6	+	5	2229	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	650					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K650T(1)		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)				AGTAGAGAAAAACTACTTCAA	0.438																																						ENST00000262894.6																			1	Substitution - Missense(1)	p.K650T(1)	large_intestine(1)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16						c.(1948-1950)aAa>aCa		zinc finger protein 225							56	56	56					19																	44636716		2162	4281	6443	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44636716A>C	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.1949A>C	19.37:g.44636716A>C	ENSP00000262894:p.Lys650Thr					ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T|ZNF225_ENST00000592780.1_3'UTR	p.K650T	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN			5	2229	+		Prostate(69;0.0352)|all_neural(266;0.202)	650					A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.1949A>C	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036797	0.35893	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.21191	2.02	1.94	0.649	0.17806	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.32980	0.156	T	0.39961	-0.9588	9	0.72032	D	0.01	.	7.5755	0.27933	0.7293:0.2707:0.0:0.0	.	650	Q9UK10	ZN225_HUMAN	T	650;614	ENSP00000262894:K650T	ENSP00000262894:K650T	K	+	2	0	ZNF225	49328556	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.020000	0.12525	0.079000	0.16929	0.459000	0.35465	AAA		0.438	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			31	176	0	0	0	1	0	31	176					C	44636716	A	C	44636716	3	2	79	1	0	0	0	0	1	0	0	0	17832	14	1	4	1963	4	ZNF225	19	44636716	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	542	44636716	14492267	19347	29664											
ZNF234	10780	broad.mit.edu	37	chr19	44660497	44660497	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctggaaacagattgcaagtGatttaatcaagtatgaagac	9	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44660497G>T	ENST00000426739.2	+	6	586	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	110	KRNB.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GATTGCAAGTGATTTAATCAA	0.448																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(328-330)Gat>Tat		zinc finger protein 234							75	77	77					19																	44660497		1966	4185	6151	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660497G>T	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.328G>T	19.37:g.44660497G>T	ENSP00000400878:p.Asp110Tyr					ZNF234_ENST00000592437.1_Missense_Mutation_p.D110Y	p.D110Y	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	586	+		Prostate(69;0.0435)	110			KRNB.		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.328G>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375262	0.42105	.	.	ENSG00000167380	ENST00000426739	T	0.05996	3.36	3.34	2.28	0.28536	.	.	.	.	.	T	0.10078	0.0247	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	T	0.27331	-1.0077	9	0.42905	T	0.14	.	4.1781	0.10362	0.121:0.0:0.648:0.2311	.	110	Q14588	ZN234_HUMAN	Y	110	ENSP00000400878:D110Y	ENSP00000400878:D110Y	D	+	1	0	ZNF226	49352337	0.099000	0.21834	0.017000	0.16124	0.292000	0.27327	0.985000	0.29578	0.960000	0.38005	0.591000	0.81541	GAT		0.448	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			83	308	1	0	5.52753e-52	1	6.87006e-52	83	308					T	44660497	G	T	44660497	3	4	79	1	0	0	0	0	1	0	0	0	17840	1290	45	3	342	3	ZNF234	19	44660497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23781	44660497	14468486	19348	29665											
ZNF234	10780	broad.mit.edu	37	chr19	44661008	44661008	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccatcttcaggaacatcagaGaattcatactggggagaaac	9	9	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44661008G>T	ENST00000426739.2	+	6	1097	c.839G>T	c.(838-840)aGa>aTa	p.R280I	ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)				GAACATCAGAGAATTCATACT	0.418																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(838-840)aGa>aTa		zinc finger protein 234							127	135	132					19																	44661008		2197	4299	6496	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44661008G>T	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.839G>T	19.37:g.44661008G>T	ENSP00000400878:p.Arg280Ile					ZNF234_ENST00000592437.1_Missense_Mutation_p.R280I	p.R280I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN			6	1097	+		Prostate(69;0.0435)	280					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.839G>T	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867374	0.51588	.	.	ENSG00000167380	ENST00000426739	T	0.24908	1.83	3.98	-1.14	0.09741	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29458	0.0734	L	0.48986	1.54	0.25986	N	0.982302	D	0.57899	0.981	P	0.54140	0.743	T	0.18241	-1.0343	9	0.42905	T	0.14	.	5.4562	0.16592	0.3579:0.1405:0.5016:0.0	.	280	Q14588	ZN234_HUMAN	I	280	ENSP00000400878:R280I	ENSP00000400878:R280I	R	+	2	0	ZNF226	49352848	0.000000	0.05858	0.260000	0.24451	0.991000	0.79684	-1.281000	0.02802	0.114000	0.18032	0.586000	0.80456	AGA		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			154	612	1	0	1.86983e-63	1	2.36032e-63	154	612					T	44661008	G	T	44661008	3	4	79	1	0	0	0	0	1	0	0	0	17840	942	33	3	853	3	ZNF234	19	44661008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	511	44661008	14467975	19349	29666											
ZNF226	7769	broad.mit.edu	37	chr19	44680638	44680638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcggaattcacatcttcaatCccatcaaagagttcatacag	5	11	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44680638C>T	ENST00000590089.1	+	7	1590	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F|ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)				CATCTTCAATCCCATCAAAGA	0.443																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(1222-1224)tCc>tTc		zinc finger protein 226							64	68	67					19																	44680638		2198	4299	6497	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680638C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1223C>T	19.37:g.44680638C>T	ENSP00000465121:p.Ser408Phe					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408F|ZNF226_ENST00000454662.2_Missense_Mutation_p.S408F	p.S408F			Q9NYT6	ZN226_HUMAN			7	1590	+		Prostate(69;0.0352)|all_neural(266;0.202)	408					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1223C>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.122901	0.37436	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08008	3.14;3.14	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.564716	0.13501	N	0.383210	T	0.21509	0.0518	L	0.50333	1.59	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02184	-1.1199	10	0.54805	T	0.06	.	12.2773	0.54744	0.1699:0.83:0.0:0.0	.	408	Q9NYT6	ZN226_HUMAN	F	408	ENSP00000336719:S408F;ENSP00000393265:S408F	ENSP00000336719:S408F	S	+	2	0	ZNF226	49372478	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.425000	0.02446	2.201000	0.70794	0.655000	0.94253	TCC		0.443	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			64	262	0	0	0	1	0	64	262					T	44680638	C	T	44680638	3	4	79	1	0	0	0	0	1	0	0	0	17833	855	30	2	1291	2	ZNF226	19	44680638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19630	44680638	14448345	19350	29667											
ZNF226	7769	broad.mit.edu	37	chr19	44681488	44681488	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccttgacatgcatcagagGgtgcacacaggagaaaaacc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44681488G>T	ENST00000590089.1	+	7	2440	c.2073G>T	c.(2071-2073)agG>agT	p.R691S	ZNF226_ENST00000337433.5_Missense_Mutation_p.R691S|ZNF226_ENST00000454662.2_Missense_Mutation_p.R691S|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	691					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)				TGCATCAGAGGGTGCACACAG	0.463																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(2071-2073)agG>agT		zinc finger protein 226							110	119	116					19																	44681488		2197	4299	6496	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681488G>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"Zinc fingers, C2H2-type", "-"	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2073G>T	19.37:g.44681488G>T	ENSP00000465121:p.Arg691Ser					ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.R691S|ZNF226_ENST00000454662.2_Missense_Mutation_p.R691S	p.R691S			Q9NYT6	ZN226_HUMAN			7	2440	+		Prostate(69;0.0352)|all_neural(266;0.202)	691					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.2073G>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890826	0.33348	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.02395	4.31;4.31	3.89	0.538	0.17150	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36002	N	0.002846	T	0.03520	0.0101	M	0.73430	2.235	0.26867	N	0.96782	P	0.36535	0.557	B	0.31016	0.123	T	0.30119	-0.9989	10	0.54805	T	0.06	.	5.8238	0.18542	0.5082:0.0:0.4918:0.0	.	691	Q9NYT6	ZN226_HUMAN	S	691	ENSP00000336719:R691S;ENSP00000393265:R691S	ENSP00000336719:R691S	R	+	3	2	ZNF226	49373328	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.619000	0.02048	0.427000	0.26145	0.655000	0.94253	AGG		0.463	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			15	442	1	0	1.05317e-09	1	1.11087e-09	15	442					T	44681488	G	T	44681488	3	4	79	1	0	0	0	0	1	0	0	0	17833	1223	43	3	2141	3	ZNF226	19	44681488	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	850	44681488	14447495	19351	29668											
ZNF227	7770	broad.mit.edu	37	chr19	44740976	44740976	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtccatactggtaaaaAgctttagaaatgagaaatgt	9	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44740976A>C	ENST00000313040.7	+	6	2598	c.2393A>C	c.(2392-2394)aAg>aCg	p.K798T	ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T|ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T|ZNF235_ENST00000589799.1_Intron	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTGGTAAAAAGCTTTAGAAA	0.393																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(2392-2394)aAg>aCg		zinc finger protein 227							34	32	33					19																	44740976		2203	4294	6497	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740976A>C	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2393A>C	19.37:g.44740976A>C	ENSP00000321049:p.Lys798Thr					ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000391961.2_Missense_Mutation_p.K747T|ZNF227_ENST00000589005.1_Missense_Mutation_p.K747T	p.K798T	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	2598	+		Prostate(69;0.0435)	798					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.2393A>C	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723345	0.48728	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.09538	3.11;2.97	4.03	1.91	0.25777	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17789	0.0427	M	0.85630	2.765	0.80722	D	1	B;B;B;B	0.27910	0.084;0.042;0.193;0.084	B;B;B;B	0.32864	0.154;0.07;0.133;0.154	T	0.03095	-1.1073	9	0.87932	D	0	.	8.1488	0.31128	0.8131:0.0:0.1869:0.0	.	719;777;750;798	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	T	798;755;747;777;437	ENSP00000321049:K798T;ENSP00000375823:K747T	ENSP00000321049:K798T	K	+	2	0	ZNF227	49432816	0.199000	0.23386	0.214000	0.23707	0.427000	0.31564	1.410000	0.34691	0.683000	0.31428	0.379000	0.24179	AAG		0.393	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		33	164	0	0	0	1	0	33	164					C	44740976	A	C	44740976	3	2	79	1	0	0	0	0	1	0	0	0	17834	72	3	4	2407	4	ZNF227	19	44740976	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	59488	44740976	14388007	19352	29669											
ZNF233	353355	broad.mit.edu	37	chr19	44778193	44778193	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaggtatgtgataagggCttcagtaaggcctcaaatct	12	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44778193C>T	ENST00000391958.2	+	5	1507	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.G442G|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				GTGATAAGGGCTTCAGTAAGG	0.418																																						ENST00000391958.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20						c.(1378-1380)ggC>ggT		zinc finger protein 233							62	72	69					19																	44778193		2190	4300	6490	SO:0001819	synonymous_variant	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778193C>T	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.1380C>T	19.37:g.44778193C>T						ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.G442G|ZNF233_ENST00000592581.1_3'UTR	p.G460G	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN			5	1507	+		Prostate(69;0.0435)|all_neural(266;0.226)	460					B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	c.1380C>T	CCDS33047.1																																																																																				0.418	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		82	344	0	0	0	1	0	82	344					T	44778193	C	T	44778193	2	4	79	1	0	0	0	0	0	0	0	1	17839	784	28	2		2	ZNF233	19	44778193	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37217	44778193	14350790	19353	29670											
ZNF235	9310	broad.mit.edu	37	chr19	44791924	44791924	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatgattgtgaagattcaagCtccaattgaagcgcttccca	9	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44791924C>A	ENST00000291182.4	-	5	1766	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGATTCAAGCTCCAATTGAA	0.443																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1663-1665)aGc>aTc		zinc finger protein 235							88	83	84					19																	44791924		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44791924C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1664G>T	19.37:g.44791924C>A	ENSP00000291182:p.Ser555Ile					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.S555I	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	1766	-		Prostate(69;0.0352)|all_neural(266;0.116)	555					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1664G>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339720	0.41398	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.37058	1.22	5.04	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000106	T	0.48874	0.1524	M	0.76170	2.325	0.09310	N	0.999994	D;D	0.89917	0.999;1.0	D;D	0.67725	0.953;0.916	T	0.39354	-0.9618	10	0.51188	T	0.08	.	1.762	0.02994	0.1678:0.4886:0.1625:0.1811	.	551;555	Q14590-2;Q14590	.;ZN235_HUMAN	I	555;555;447	ENSP00000291182:S555I	ENSP00000291182:S555I	S	-	2	0	ZNF235	49483764	0.000000	0.05858	0.994000	0.49952	0.919000	0.55068	0.015000	0.13355	1.253000	0.44018	0.462000	0.41574	AGC		0.443	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			83	339	1	0	3.30373e-36	1	3.95205e-36	83	339					A	44791924	C	A	44791924	3	1	79	1	0	0	0	0	1	0	0	0	17841	797	28	3	556	3	ZNF235	19	44791924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13731	44791924	14337059	19354	29671											
ZNF235	9310	broad.mit.edu	37	chr19	44792320	44792320	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctctccagtgtgaattCtttcatgggcctgaagatgt	10	8	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44792320C>A	ENST00000291182.4	-	5	1370	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AGTGTGAATTCTTTCATGGGC	0.423																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1267-1269)aGa>aTa		zinc finger protein 235							88	86	87					19																	44792320		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792320C>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"Zinc fingers, C2H2-type", "-"	12866	protein-coding gene	gene with protein product		604749	"zinc finger protein homologous to Zfp93 in mouse"	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1268G>T	19.37:g.44792320C>A	ENSP00000291182:p.Arg423Ile					ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	p.R423I	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	1370	-		Prostate(69;0.0352)|all_neural(266;0.116)	423					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1268G>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940732	0.52972	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.24908	1.83	4.08	4.08	0.47627	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	0.46014	0.1371	M	0.64170	1.965	0.46725	D	0.999174	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.40553	-0.9557	10	0.52906	T	0.07	.	12.5135	0.56019	0.0:0.8298:0.1702:0.0	.	419;423	Q14590-2;Q14590	.;ZN235_HUMAN	I	423;423;345	ENSP00000291182:R423I	ENSP00000291182:R423I	R	-	2	0	ZNF235	49484160	0.000000	0.05858	0.967000	0.41034	0.920000	0.55202	-0.039000	0.12124	2.233000	0.73108	0.462000	0.41574	AGA		0.423	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			16	446	1	0	5.01169e-05	1	5.1097e-05	16	446					A	44792320	C	A	44792320	3	1	79	1	0	0	0	0	1	0	0	0	17841	913	32	3	952	3	ZNF235	19	44792320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	396	44792320	14336663	19355	29672											
ZFP112	7771	broad.mit.edu	37	chr19	44833535	44833535	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcattactgaaggcttTtctatacccagtacatggat	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44833535T>G	ENST00000337401.4	-	5	881	c.793A>C	c.(793-795)Aaa>Caa	p.K265Q	ZNF112_ENST00000536500.1_Missense_Mutation_p.K282Q|ZNF112_ENST00000354340.4_Missense_Mutation_p.K259Q	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	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)										CTGAAGGCTTTTCTATACCCA	0.433																																						ENST00000354340.4																			0											c.(775-777)Aaa>Caa		zinc finger protein 112							100	100	100					19																	44833535		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44833535T>G	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.793A>C	19.37:g.44833535T>G	ENSP00000337081:p.Lys265Gln					ZNF112_ENST00000337401.4_Missense_Mutation_p.K265Q|ZNF112_ENST00000536500.1_Missense_Mutation_p.K282Q	p.K259Q	NM_013380.3	NP_037512.3					4	826	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.775A>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213710	0.58452	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.21932	1.98;1.98;1.98	5.38	-0.593	0.11667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.443179	0.16708	N	0.202804	T	0.27559	0.0677	M	0.88842	2.985	0.09310	N	1	B;P;B	0.36990	0.441;0.577;0.441	B;B;B	0.38264	0.138;0.269;0.138	T	0.16276	-1.0408	10	0.56958	D	0.05	-1.8997	6.1902	0.20520	0.0:0.2904:0.136:0.5736	.	264;282;265	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	Q	265;265;259;282;264	ENSP00000337081:K265Q;ENSP00000346305:K259Q;ENSP00000441990:K282Q	ENSP00000253426:K264Q	K	-	1	0	ZNF285	49525375	.	.	0.001000	0.08648	0.623000	0.37688	.	.	-0.136000	0.11475	0.459000	0.35465	AAA		0.433	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		93	375	0	0	0	1	0	93	375					G	44833535	T	G	44833535	3	3	79	1	0	0	0	0	1	0	0	0	17691	1850	64	4	1952	4	ZFP112	19	44833535	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	41215	44833535	14295448	19356	29673											
ZNF229	7772	broad.mit.edu	37	chr19	44932978	44932978	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctaaagccctttccgcactCttggcatctgtaaggtttct	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44932978C>A	ENST00000588931.1	-	6	2411	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ZNF229_ENST00000291187.4_Nonsense_Mutation_p.E654*|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCCGCACTCTTGGCATCTG	0.498																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1960-1962)Gag>Tag		zinc finger protein 229							122	123	123					19																	44932978		2156	4278	6434	SO:0001587	stop_gained	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932978C>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1978G>T	19.37:g.44932978C>A	ENSP00000466519:p.Glu660*					ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Nonsense_Mutation_p.E660*	p.E654*	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	2282	-		Prostate(69;0.0352)	660					B2RWN3|Q59FV2|Q86WL9	Nonsense_Mutation	SNP	ENST00000588931.1	37	c.1960G>T	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	38	7.183847	0.98121	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	-0.111	0.13576	.	.	.	.	.	.	.	.	.	.	.	0.46981	D	0.999279	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	5.1241	0.14875	0.165:0.6371:0.0:0.1979	.	.	.	.	X	660	.	ENSP00000291187:E660X	E	-	1	0	ZNF229	49624818	0.000000	0.05858	0.013000	0.15412	0.053000	0.15095	0.147000	0.16202	0.108000	0.17862	-0.208000	0.12717	GAG		0.498	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		36	629	1	0	2.20474e-14	1	2.39557e-14	36	629					A	44932978	C	A	44932978	4	1	79	1	0	0	0	0	0	1	0	0	17835	922	32	3	503	3	ZNF229	19	44932978	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99443	44932978	14196005	19357	29674											
ZNF229	7772	broad.mit.edu	37	chr19	44934204	44934204	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgatgaagtacagagtttTtaatgcagtcttttctgcat	9	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44934204T>G	ENST00000588931.1	-	6	1185	c.752A>C	c.(751-753)aAa>aCa	p.K251T	ZNF229_ENST00000291187.4_Missense_Mutation_p.K245T|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACAGAGTTTTTAATGCAGTC	0.433																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(733-735)aAa>aCa		zinc finger protein 229							121	111	114					19																	44934204		1888	4109	5997	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934204T>G	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.752A>C	19.37:g.44934204T>G	ENSP00000466519:p.Lys251Thr					ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.K251T	p.K245T	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1056	-		Prostate(69;0.0352)	251					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.734A>C	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	T	8.302	0.820100	0.16678	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.92	1.24	0.21308	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.24048	-1.0171	8	0.27082	T	0.32	.	6.3199	0.21213	0.0:0.1102:0.1737:0.716	.	251	Q9UJW7	ZN229_HUMAN	T	251	.	ENSP00000291187:K251T	K	-	2	0	ZNF229	49626044	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.197000	0.09518	0.386000	0.24997	0.496000	0.49642	AAA		0.433	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		103	380	0	0	0	1	0	103	380					G	44934204	T	G	44934204	3	3	79	1	0	0	0	0	1	0	0	0	17835	1841	64	4	1729	4	ZNF229	19	44934204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1226	44934204	14194779	19358	29675											
ZNF180	7733	broad.mit.edu	37	chr19	44982351	44982351	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatctttttttccaactGcagttgccaagtctgaaaga	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44982351G>A	ENST00000221327.4	-	5	628	c.347C>T	c.(346-348)gCa>gTa	p.A116V	ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000586637.1_Silent_p.C125C|ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	116	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(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTTCCAACTGCAGTTGCCAA	0.323																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(346-348)gCa>gTa		zinc finger protein 180							43	45	44					19																	44982351		2201	4298	6499	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44982351G>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.347C>T	19.37:g.44982351G>A	ENSP00000221327:p.Ala116Val					ZNF180_ENST00000391956.4_Missense_Mutation_p.A91V|ZNF180_ENST00000587047.1_3'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.A89V|ZNF180_ENST00000586637.1_Silent_p.C125C	p.A116V	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	628	-		Prostate(69;0.0435)	116			KRAB.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.347C>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	0.365	-0.937103	0.02340	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00776	5.71;5.71	5.16	-1.2	0.09554	Krueppel-associated box (3);	0.363501	0.20122	N	0.098791	T	0.00468	0.0015	N	0.16266	0.395	0.09310	N	1	B;B;B	0.12630	0.006;0.004;0.004	B;B;B	0.16289	0.015;0.006;0.006	T	0.47446	-0.9117	10	0.25106	T	0.35	-1.1964	1.0527	0.01583	0.2778:0.154:0.4105:0.1578	.	91;115;116	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	V	116;91	ENSP00000221327:A116V;ENSP00000375818:A91V	ENSP00000221327:A116V	A	-	2	0	ZNF180	49674191	0.001000	0.12720	0.017000	0.16124	0.043000	0.13939	0.420000	0.21263	0.037000	0.15575	0.655000	0.94253	GCA		0.323	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		44	202	0	0	0	1	0	44	202					A	44982351	G	A	44982351	3	1	79	1	0	0	0	0	1	0	0	0	17801	1319	46	2	1735	2	ZNF180	19	44982351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48147	44982351	14146632	19359	29676											
CEACAM20	125931	broad.mit.edu	37	chr19	45024580	45024580	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctcacaggcatagggccCcgtgtcattccgctggaggc	13	14	2	0	rs372834997		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45024580C>T	ENST00000454753.1	-	0	1236							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)				GCATAGGGCCCCGTGTCATTC	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		19376	0.0		0.0	False		,,,				2504	0.001					ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20			ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	0,3894		0,0,1947	56	55	55		958,958,958,958	4.5	0.3	19		55	2,8286		0,2,4142	no	missense,missense,missense,missense	CEACAM20	NM_001102597.1,NM_001102598.1,NM_001102599.1,NM_001102600.1	125,125,125,125	0,2,6089	TT,TC,CC		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging,probably-damaging	320/597,320/492,320/504,320/585	45024580	2,12180	1947	4144	6091			125931					integral to membrane		g.chr19:45024580C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024580C>T										Q6UY09	CEA20_HUMAN			0	1236	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.632	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		53	138	0	0	0	1	0	53	138					T	45024580	C	T	45024580	1	4	79	0	1	0	0	0	0	0	0	0	3200	623	22	2		2	CEACAM20	19	45024580	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42229	45024580	14104403	19360	29677											
PVR	5817	broad.mit.edu	37	chr19	45150592	45150592	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccaacatggaggtgacGcatgtgtcacagctgacttg	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45150592G>A	ENST00000425690.3	+	2	476	c.177G>A	c.(175-177)acG>acA	p.T59T	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.T59T|PVR_ENST00000403059.4_Silent_p.T59T|PVR_ENST00000344956.4_Silent_p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	59	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)		TGGAGGTGACGCATGTGTCAC	0.647																																						ENST00000425690.3																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(175-177)acG>acA		poliovirus receptor							34	28	30					19																	45150592		2203	4299	6502	SO:0001819	synonymous_variant	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45150592G>A	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.177G>A	19.37:g.45150592G>A						PVR_ENST00000406449.4_Silent_p.T59T|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.T59T|PVR_ENST00000344956.4_Silent_p.T59T	p.T59T	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN		Epithelial(262;0.000601)	2	476	+	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)	59			Ig-like V-type.		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	ENST00000425690.3	37	c.177G>A	CCDS12640.1																																																																																				0.647	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		17	79	0	0	0	1	0	17	79					A	45150592	G	A	45150592	2	1	79	1	0	0	0	0	0	0	0	1	12887	1074	38	1		1	PVR	19	45150592	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126012	45150592	13978391	19361	29678											
CEACAM16	388551	broad.mit.edu	37	chr19	45209005	45209005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggaccttcaacgggcaGgccctaaagaacggccaaga	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45209005G>T	ENST00000405314.2	+	4	904	c.807G>T	c.(805-807)caG>caT	p.Q269H	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Missense_Mutation_p.Q269H			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	269	Ig-like C2-type 2.				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)				TCAACGGGCAGGCCCTAAAGA	0.572																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(805-807)caG>caT		carcinoembryonic antigen-related cell adhesion molecule 16							95	106	102					19																	45209005		2131	4240	6371	SO:0001583	missense	388551							g.chr19:45209005G>T		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.807G>T	19.37:g.45209005G>T	ENSP00000385576:p.Gln269His					CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.Q269H	p.Q269H	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			5	1022	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	269					A7LI12	Missense_Mutation	SNP	ENST00000405314.2	37	c.807G>T	CCDS54278.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614232	0.46631	.	.	ENSG00000213892	ENST00000396750;ENST00000405314	T	0.12879	2.64	4.58	1.12	0.20585	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.783384	0.09963	U	0.733215	T	0.11024	0.0269	L	0.37697	1.125	0.22571	N	0.998973	P	0.46656	0.882	B	0.42282	0.382	T	0.22906	-1.0203	10	0.44086	T	0.13	-14.1742	5.1227	0.14869	0.0985:0.0:0.5353:0.3662	.	328	Q2WEN9	CEA16_HUMAN	H	334;269	ENSP00000385576:Q269H	ENSP00000379974:Q334H	Q	+	3	2	CEACAM16	49900845	1.000000	0.71417	0.945000	0.38365	0.864000	0.49448	1.107000	0.31110	0.153000	0.19213	0.555000	0.69702	CAG		0.572	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		61	233	1	0	6.60958e-23	1	7.49606e-23	61	233					T	45209005	G	T	45209005	3	4	79	1	0	0	0	0	1	0	0	0	3197	991	35	3	821	3	CEACAM16	19	45209005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58413	45209005	13919978	19362	29679											
CEACAM16	388551	broad.mit.edu	37	chr19	45213775	45213775	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatgccccacagccctgggGtaacagcgtgaccctggaga	12	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45213775G>A	ENST00000405314.2	+	6	1372	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000587331.1_Silent_p.G425G			Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	425					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652																																						ENST00000587331.1																			0				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1273-1275)ggG>ggA		carcinoembryonic antigen-related cell adhesion molecule 16							97	106	103					19																	45213775		2010	4161	6171	SO:0001819	synonymous_variant	388551							g.chr19:45213775G>A		CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000405314.2:c.1275G>A	19.37:g.45213775G>A						CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.G425G	p.G425G	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN			7	1490	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)	425					A7LI12	Silent	SNP	ENST00000405314.2	37	c.1275G>A	CCDS54278.1																																																																																				0.652	CEACAM16-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		XM_371177		113	500	0	0	0	1	0	113	500					A	45213775	G	A	45213775	2	1	79	1	0	0	0	0	0	0	0	1	3197	1248	44	2		2	CEACAM16	19	45213775	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4770	45213775	13915208	19363	29680											
BCL3	602	broad.mit.edu	37	chr19	45260657	45260657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgctagagcgcggtgcCgacatcgacgcagtggtgag	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45260657C>T	ENST00000164227.5	+	5	1042	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	266					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)				AGCGCGGTGCCGACATCGACG	0.687			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(796-798)gcC>gcT		B-cell CLL/lymphoma 3							22	17	19					19																	45260657		2202	4297	6499	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45260657C>T	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.798C>T	19.37:g.45260657C>T							p.A266A	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			5	1042	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	266						Silent	SNP	ENST00000164227.5	37	c.798C>T	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	4.325	0.059655	0.08339	.	.	ENSG00000069399	ENST00000444487	.	.	.	4.71	-9.42	0.00610	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.1182	2.5814	0.04819	0.1967:0.4096:0.1633:0.2304	.	.	.	.	X	150	.	.	R	+	1	2	BCL3	49952497	0.000000	0.05858	0.087000	0.20705	0.384000	0.30261	-11.547000	0.00003	-3.317000	0.00189	0.305000	0.20034	CGA		0.687	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		5	43	0	0	0	1	0	5	43					T	45260657	C	T	45260657	2	4	79	1	0	0	0	0	0	0	0	1	1376	639	23	1		1	BCL3	19	45260657	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46882	45260657	13868326	19364	29681											
BCL3	602	broad.mit.edu	37	chr19	45262730	45262730	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccctcccagtctccccCcagggacccccctggattcc	6	23	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45262730C>A	ENST00000164227.5	+	9	1467	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	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)				CAGTCTCCCCCCAGGGACCCC	0.627			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1222-1224)cCc>cAc		B-cell CLL/lymphoma 3							193	207	202					19																	45262730		2203	4300	6503	SO:0001583	missense	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262730C>A	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.1223C>A	19.37:g.45262730C>A	ENSP00000164227:p.Pro408His						p.P408H	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1467	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	408			Pro/Ser-rich.			Missense_Mutation	SNP	ENST00000164227.5	37	c.1223C>A	CCDS12642.2	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650273	0.47362	.	.	ENSG00000069399	ENST00000164227	T	0.41758	0.99	4.5	3.46	0.39613	.	0.284212	0.25344	N	0.031353	T	0.31482	0.0798	L	0.27053	0.805	0.28683	N	0.904996	P	0.45283	0.855	B	0.43536	0.423	T	0.21655	-1.0239	10	0.66056	D	0.02	-0.612	9.4966	0.38993	0.0:0.8948:0.0:0.1052	.	408	P20749	BCL3_HUMAN	H	408	ENSP00000164227:P408H	ENSP00000164227:P408H	P	+	2	0	BCL3	49954570	0.972000	0.33761	0.991000	0.47740	0.913000	0.54294	1.116000	0.31221	2.022000	0.59522	0.491000	0.48974	CCC		0.627	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		84	2137	1	0	3.33393e-15	1	3.63836e-15	84	2137					A	45262730	C	A	45262730	3	1	79	1	0	0	0	0	1	0	0	0	1376	623	22	3	1257	3	BCL3	19	45262730	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2073	45262730	13866253	19365	29682											
CBLC	23624	broad.mit.edu	37	chr19	45287578	45287578	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccatcggctatgtgagCtcagatggcagcatcctgca	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45287578C>T	ENST00000270279.3	+	5	900	c.837C>T	c.(835-837)agC>agT	p.S279S	CBLC_ENST00000341505.4_Intron	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	279	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				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)				GCTATGTGAGCTCAGATGGCA	0.597			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(835-837)agC>agT		Cbl proto-oncogene C, E3 ubiquitin protein ligase							129	85	100					19																	45287578		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45287578C>T	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.837C>T	19.37:g.45287578C>T			OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	CBLC_ENST00000341505.4_Intron	p.S279S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			5	900	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	279			Cbl-PTB.|SH2-like.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.837C>T	CCDS12643.1																																																																																				0.597	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		13	283	0	0	0	1	0	13	283					T	45287578	C	T	45287578	2	4	79	1	0	0	0	0	0	0	0	1	2709	796	28	2		2	CBLC	19	45287578	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24848	45287578	13841405	19366	29683											
BCAM	4059	broad.mit.edu	37	chr19	45322676	45322676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtgaccagcgccctgaGccgcgatggcatctcctgtg	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	ENST00000270233.6	+	12	1569	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	BCAM_ENST00000589651.1_Missense_Mutation_p.S516N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	516	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)				AGCGCCCTGAGCCGCGATGGC	0.652																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1546-1548)aGc>aAc		basal cell adhesion molecule (Lutheran blood group)							78	85	83					19																	45322676		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45322676G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1547G>A	19.37:g.45322676G>A	ENSP00000270233:p.Ser516Asn					BCAM_ENST00000270233.6_Missense_Mutation_p.S516N	p.S516N			P50895	BCAM_HUMAN			12	1591	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	516			Ig-like C2-type 3.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.1547G>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	13.66	2.302032	0.40694	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.14266	2.52;2.52	4.27	3.1	0.35709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12603	0.0306	L	0.37630	1.12	0.23727	N	0.997001	P	0.37914	0.611	B	0.42882	0.401	T	0.14282	-1.0478	9	0.13853	T	0.58	-21.7405	9.1554	0.36990	0.0:0.2943:0.7057:0.0	.	516	P50895	BCAM_HUMAN	N	516	ENSP00000270233:S516N;ENSP00000375817:S516N	ENSP00000270233:S516N	S	+	2	0	BCAM	50014516	0.979000	0.34478	0.998000	0.56505	0.778000	0.44026	1.369000	0.34227	2.117000	0.64856	0.538000	0.68166	AGC		0.652	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		128	513	0	0	0	1	0	128	513					A	45322676	G	A	45322676	3	1	79	1	0	0	0	0	1	0	0	0	1345	971	34	2	1593	2	BCAM	19	45322676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35098	45322676	13806307	19367	29684											
PVRL2	5819	broad.mit.edu	37	chr19	45391366	45391366	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctctctctacctccaGgaaatgcctcgataccatga	6	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45391366G>T	ENST00000252483.5	+	9	1347		c.e9-1		CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCTACCTCCAGGAAATGCCTC	0.572																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.e9-1		poliovirus receptor-related 2 (herpesvirus entry mediator B)							47	49	48					19																	45391366		2049	4190	6239	SO:0001630	splice_region_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45391366G>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1348-1G>T	19.37:g.45391366G>T						CTB-129P6.4_ENST00000585408.1_RNA		NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	9	1347	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)						A8K5L5|O75455|Q6IBI6|Q96J29	Splice_Site	SNP	ENST00000252483.5	37		CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268218	0.59540	.	.	ENSG00000130202	ENST00000252483	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5417	0.61679	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PVRL2	50083206	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.858000	0.62947	2.659000	0.90383	0.561000	0.74099	.		0.572	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	Intron	69	284	1	0	3.13765e-25	1	3.59736e-25	69	284					T	45391366	G	T	45391366	5	4	79	1	0	0	0	0	0	0	1	0	12890	1014	35	3	1783	3	PVRL2	19	45391366	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68690	45391366	13737617	19368	29685											
APOE	348	broad.mit.edu	37	chr19	45412285	45412285	+	Silent	SNP	C	C	T													gagatgggcagccggacccgCgaccgcctggacgaggtgaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412285C>T	ENST00000252486.4	+	4	843	c.732C>T	c.(730-732)cgC>cgT	p.R244R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	244	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)	GCCGGACCCGCGACCGCCTGG	0.746																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(730-732)cgC>cgT		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						5	6	6					19																	45412285		2024	4029	6053	SO:0001819	synonymous_variant	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45412285C>T	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.732C>T	19.37:g.45412285C>T							p.R244R	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	843	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	244			8 X 22 AA approximate tandem repeats.		B2RC15|C0JYY5|Q9P2S4	Silent	SNP	ENST00000252486.4	37	c.732C>T	CCDS12647.1																																																																																				0.746	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		7	35	0	0	0	1	0	7	35					T	45412285	C	T	45412285	2	4	79	1	0	0	0	0	0	0	0	1	802	755	27	1		1	APOE	19	45412285	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20919	45412285	13716698	19369	29686	191	2									
APOE	348	broad.mit.edu	37	chr19	45412290	45412290	+	Missense_Mutation	SNP	G	G	A													gggcagccggacccgcgaccGcctggacgaggtgaaggagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45412290G>A	ENST00000252486.4	+	4	848	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	246	8 X 22 AA approximate tandem repeats.		R -> C (in form E2 Dunedin).		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)	ACCCGCGACCGCCTGGACGAG	0.751																																						ENST00000252486.4																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(736-738)cGc>cAc		apolipoprotein E	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						6	7	7					19																	45412290		2066	4111	6177	SO:0001583	missense	348				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding	g.chr19:45412290G>A	K00396	CCDS12647.1	19q13.31	2013-01-24			ENSG00000130203	ENSG00000130203		"Apolipoproteins"	613	protein-coding gene	gene with protein product		107741	"Alzheimer disease 2 (APOE*E4-associated, late onset)"	AD2		10662539	Standard	NM_000041		Approved		uc002pab.3	P02649	OTTHUMG00000128901	ENST00000252486.4:c.737G>A	19.37:g.45412290G>A	ENSP00000252486:p.Arg246His						p.R246H	NM_000041.2	NP_000032.1	P02649	APOE_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	848	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	246		R -> C (in isoform E2 Dunedin).	8 X 22 AA approximate tandem repeats.		B2RC15|C0JYY5|Q9P2S4	Missense_Mutation	SNP	ENST00000252486.4	37	c.737G>A	CCDS12647.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921081	0.33908	.	.	ENSG00000130203	ENST00000252486	T	0.74002	-0.8	4.73	-3.36	0.04913	Apolipoprotein/apolipophorin (1);	0.559596	0.15717	N	0.248099	T	0.50956	0.1646	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.28808	-1.0032	10	0.36615	T	0.2	-16.8511	1.0706	0.01620	0.3691:0.237:0.2591:0.1349	.	246	P02649	APOE_HUMAN	H	246	ENSP00000252486:R246H	ENSP00000252486:R246H	R	+	2	0	APOE	50104130	0.334000	0.24739	0.709000	0.30452	0.804000	0.45430	0.487000	0.22356	-0.086000	0.12550	0.555000	0.69702	CGC		0.751	APOE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250865.2	NM_000041		5	44	0	0	0	1	0	5	44					A	45412290	G	A	45412290	3	1	79	1	0	0	0	0	1	0	0	0	802	1087	38	1	747	1	APOE	19	45412290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	45412290	13716693	19370	29687	191	2									
CLPTM1	1209	broad.mit.edu	37	chr19	45489787	45489787	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatcaacatcgtggacgaCcacacgccgtgggtgaaggg	13	12	1	1	rs11541460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45489787C>T	ENST00000337392.5	+	7	897	c.747C>T	c.(745-747)gaC>gaT	p.D249D	CLPTM1_ENST00000546079.1_Silent_p.D147D|CLPTM1_ENST00000541297.2_Silent_p.D235D|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	249					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGTGGACGACCACACGCCGT	0.622																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(703-705)gaC>gaT		cleft lip and palate associated transmembrane protein 1							154	118	130					19																	45489787		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45489787C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.747C>T	19.37:g.45489787C>T						CLPTM1_ENST00000546079.1_Silent_p.D147D|CLPTM1_ENST00000337392.5_Silent_p.D249D|CLPTM1_ENST00000589158.1_3'UTR	p.D235D			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	7	1170	+		all_neural(266;0.224)|Ovarian(192;0.231)	249					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.705C>T	CCDS12651.1																																																																																				0.622	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		68	347	0	0	0	1	0	68	347					T	45489787	C	T	45489787	2	4	79	1	0	0	0	0	0	0	0	1	3563	506	18	2		2	CLPTM1	19	45489787	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77497	45489787	13639196	19371	29688											
CLPTM1	1209	broad.mit.edu	37	chr19	45490528	45490528	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggactactaccccatcaaCgagagcctggccagcctgcc	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45490528C>T	ENST00000337392.5	+	8	1035	c.885C>T	c.(883-885)aaC>aaT	p.N295N	CLPTM1_ENST00000546079.1_Silent_p.N193N|CLPTM1_ENST00000541297.2_Silent_p.N281N|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	295					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACCCCATCAACGAGAGCCTGG	0.582																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(841-843)aaC>aaT		cleft lip and palate associated transmembrane protein 1							119	124	122					19																	45490528		2203	4300	6503	SO:0001819	synonymous_variant	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490528C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.885C>T	19.37:g.45490528C>T						CLPTM1_ENST00000546079.1_Silent_p.N193N|CLPTM1_ENST00000337392.5_Silent_p.N295N|CLPTM1_ENST00000589158.1_3'UTR	p.N281N			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	1308	+		all_neural(266;0.224)|Ovarian(192;0.231)	295					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	ENST00000337392.5	37	c.843C>T	CCDS12651.1																																																																																				0.582	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		176	832	0	0	0	1	0	176	832					T	45490528	C	T	45490528	2	4	79	1	0	0	0	0	0	0	0	1	3563	535	19	1		1	CLPTM1	19	45490528	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	741	45490528	13638455	19372	29689											
CLPTM1	1209	broad.mit.edu	37	chr19	45496135	45496135	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagcccctccaaagccagcaGaggacaagaaaaaggattag	10	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45496135G>A	ENST00000337392.5	+	14	2140	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K|CLPTM1_ENST00000541297.2_Missense_Mutation_p.E650K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	664					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AAAGCCAGCAGAGGACAAGAA	0.687																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1948-1950)Gag>Aag		cleft lip and palate associated transmembrane protein 1							42	47	45					19																	45496135		2202	4300	6502	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45496135G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1990G>A	19.37:g.45496135G>A	ENSP00000336994:p.Glu664Lys					CLPTM1_ENST00000546079.1_Missense_Mutation_p.E562K|CLPTM1_ENST00000337392.5_Missense_Mutation_p.E664K	p.E650K			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	14	2413	+		all_neural(266;0.224)|Ovarian(192;0.231)	664					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1948G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306244	0.60305	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392	.	.	.	5.11	2.96	0.34315	.	.	.	.	.	T	0.21962	0.0529	N	0.08118	0	0.27186	N	0.960542	B;B	0.11235	0.0;0.004	B;B	0.09377	0.003;0.004	T	0.15378	-1.0439	8	0.42905	T	0.14	.	7.1091	0.25380	0.0916:0.1721:0.7363:0.0	.	650;664	F5H8J3;O96005	.;CLPT1_HUMAN	K	562;650;664	.	ENSP00000336994:E664K	E	+	1	0	CLPTM1	50187975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.229000	0.51278	0.737000	0.32582	0.650000	0.86243	GAG		0.687	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		12	261	0	0	0	1	0	12	261					A	45496135	G	A	45496135	3	1	79	1	0	0	0	0	1	0	0	0	3563	943	33	2	2044	2	CLPTM1	19	45496135	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5607	45496135	13632848	19373	29690											
SFRS16	11129	broad.mit.edu	37	chr19	45556400	45556400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaagtgtaactacgagcGctacagaggcctggtgcaga	14	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45556400G>A	ENST00000221455.3	+	5	442	c.344G>A	c.(343-345)cGc>cAc	p.R115H	CLASRP_ENST00000391953.4_Missense_Mutation_p.R53H|CLASRP_ENST00000544944.2_Missense_Mutation_p.R115H	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	115					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AACTACGAGCGCTACAGAGGC	0.582																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(343-345)cGc>cAc		CLK4-associating serine/arginine rich protein							87	72	77					19																	45556400		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45556400G>A	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.344G>A	19.37:g.45556400G>A	ENSP00000221455:p.Arg115His					CLASRP_ENST00000221455.3_Missense_Mutation_p.R115H|CLASRP_ENST00000391953.4_Missense_Mutation_p.R53H	p.R115H			Q8N2M8	CLASR_HUMAN			4	1036	+			115					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.344G>A	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616780	0.87359	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.67	4.67	0.58626	Splicing factor, suppressor of white apricot (1);	0.000000	0.35772	U	0.002990	T	0.68668	0.3026	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.927;0.999;1.0	T	0.75342	-0.3351	10	0.87932	D	0	-16.5576	15.1245	0.72472	0.0:0.0:1.0:0.0	.	53;115;115	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	H	115;115;53;115	ENSP00000221455:R115H;ENSP00000375814:R115H;ENSP00000375815:R53H;ENSP00000438702:R115H	ENSP00000221455:R115H	R	+	2	0	CLASRP	50248240	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	9.230000	0.95299	2.431000	0.82371	0.591000	0.81541	CGC		0.582	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		49	267	0	0	0	1	0	49	267					A	45556400	G	A	45556400	3	1	79	1	0	0	0	0	1	0	0	0	14222	1087	38	1	358	1	SFRS16	19	45556400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60265	45556400	13572583	19374	29691											
SFRS16	11129	broad.mit.edu	37	chr19	45563854	45563854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagagagtttcgggagaagCggctgaggggtcgcaagatc	19	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45563854C>T	ENST00000221455.3	+	10	930	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	CLASRP_ENST00000391953.4_Missense_Mutation_p.R216W|CLASRP_ENST00000544944.2_Missense_Mutation_p.R278W	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	278					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						TCGGGAGAAGCGGCTGAGGGG	0.672																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(832-834)Cgg>Tgg		CLK4-associating serine/arginine rich protein							25	26	25					19																	45563854		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45563854C>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.832C>T	19.37:g.45563854C>T	ENSP00000221455:p.Arg278Trp					CLASRP_ENST00000221455.3_Missense_Mutation_p.R278W|CLASRP_ENST00000391953.4_Missense_Mutation_p.R216W	p.R278W			Q8N2M8	CLASR_HUMAN			9	1524	+			278					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.832C>T	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587263	0.66105	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.60299	0.97;0.94;0.2;0.91	4.5	3.41	0.39046	.	0.000000	0.32719	U	0.005738	T	0.68696	0.3029	M	0.62723	1.935	0.49051	D	0.999747	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.65010	0.858;0.931;0.854	T	0.72121	-0.4386	10	0.87932	D	0	-14.7167	11.4395	0.50088	0.1912:0.8088:0.0:0.0	.	216;278;278	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	W	278;278;216;278	ENSP00000221455:R278W;ENSP00000375814:R278W;ENSP00000375815:R216W;ENSP00000438702:R278W	ENSP00000221455:R278W	R	+	1	2	CLASRP	50255694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.037000	0.30241	2.340000	0.79590	0.563000	0.77884	CGG		0.672	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		9	100	0	0	0	1	0	9	100					T	45563854	C	T	45563854	3	4	79	1	0	0	0	0	1	0	0	0	14222	759	27	1	866	1	SFRS16	19	45563854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7454	45563854	13565129	19375	29692											
SFRS16	11129	broad.mit.edu	37	chr19	45573808	45573808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttccaggtcgagaatacagCtcttctcgaaggtaaggaag	11	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45573808C>T	ENST00000221455.3	+	20	2069	c.1971C>T	c.(1969-1971)agC>agT	p.S657S	CLASRP_ENST00000391953.4_Silent_p.S595S|CLASRP_ENST00000544944.2_Silent_p.S638S	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	657	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGAATACAGCTCTTCTCGAA	0.522																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(1912-1914)agC>agT		CLK4-associating serine/arginine rich protein							227	231	230					19																	45573808		2203	4300	6503	SO:0001819	synonymous_variant	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45573808C>T	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1971C>T	19.37:g.45573808C>T						CLASRP_ENST00000221455.3_Silent_p.S657S|CLASRP_ENST00000391953.4_Silent_p.S595S	p.S638S			Q8N2M8	CLASR_HUMAN			18	2606	+			657			Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Silent	SNP	ENST00000221455.3	37	c.1914C>T	CCDS12652.2																																																																																				0.522	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		21	1390	0	0	0	1	0	21	1390					T	45573808	C	T	45573808	2	4	79	1	0	0	0	0	0	0	0	1	14222	796	28	2		2	SFRS16	19	45573808	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9954	45573808	13555175	19376	29693											
ZNF296	162979	broad.mit.edu	37	chr19	45575632	45575632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgccacttgcacgggGgctcttggcctcagctgctg	14	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45575632G>A	ENST00000303809.2	-	3	869	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	219					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTTGCACGGGGGCTCTTGGCC	0.682																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(655-657)Ccc>Tcc		zinc finger protein 296							25	27	26					19																	45575632		2177	4249	6426	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575632G>A	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.655C>T	19.37:g.45575632G>A	ENSP00000302770:p.Pro219Ser						p.P219S	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			3	869	-			219						Missense_Mutation	SNP	ENST00000303809.2	37	c.655C>T	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345298	0.05208	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.05580	3.42	5.51	-8.85	0.00799	.	1.219780	0.05723	N	0.598054	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.42172	-0.9467	10	0.45353	T	0.12	-2.9278	1.5955	0.02663	0.436:0.1057:0.2429:0.2154	.	219	Q8WUU4	ZN296_HUMAN	S	219;195	ENSP00000302770:P219S	ENSP00000302770:P219S	P	-	1	0	ZNF296	50267472	0.926000	0.31397	0.000000	0.03702	0.154000	0.21943	2.041000	0.41213	-1.687000	0.01437	0.650000	0.86243	CCC		0.682	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		108	324	0	0	0	1	0	108	324					A	45575632	G	A	45575632	3	1	79	1	0	0	0	0	1	0	0	0	17881	1232	43	2	776	2	ZNF296	19	45575632	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1824	45575632	13553351	19377	29694											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45668402	45668402	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctctcgcctagagcctgGcccacacggaaccccatacc	7	20	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45668402G>A	ENST00000585934.1	-	2	153	c.135C>T	c.(133-135)ggC>ggT	p.G45G	TRAPPC6A_ENST00000588062.1_Intron|TRAPPC6A_ENST00000006275.4_Silent_p.G59G|TRAPPC6A_ENST00000592647.1_Intron	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	45					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CTAGAGCCTGGCCCACACGGA	0.682																																						ENST00000006275.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(175-177)ggC>ggT		trafficking protein particle complex 6A							47	41	43					19																	45668402		2202	4296	6498	SO:0001819	synonymous_variant	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45668402G>A	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"Trafficking protein particle complex"	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.135C>T	19.37:g.45668402G>A						TRAPPC6A_ENST00000585934.1_Silent_p.G45G|TRAPPC6A_ENST00000588062.1_Intron|TRAPPC6A_ENST00000592647.1_Intron	p.G59G	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	2	195	-		all_neural(266;0.224)|Ovarian(192;0.231)	45					K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Silent	SNP	ENST00000585934.1	37	c.177C>T	CCDS59397.1																																																																																				0.682	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		22	83	0	0	0	1	0	22	83					A	45668402	G	A	45668402	2	1	79	1	0	0	0	0	0	0	0	1	16516	1190	42	2		2	TRAPPC6A	19	45668402	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92770	45668402	13460581	19378	29695											
MARK4	57787	broad.mit.edu	37	chr19	45762366	45762366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggagcagccccacgtgggCaactaccgcctgctgaggac	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45762366C>T	ENST00000262891.4	+	2	502	c.171C>T	c.(169-171)ggC>ggT	p.G57G	MARK4_ENST00000300843.4_Silent_p.G57G	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	57					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCACGTGGGCAACTACCGCC	0.647																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(169-171)ggC>ggT		MAP/microtubule affinity-regulating kinase 4							44	38	40					19																	45762366		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45762366C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.171C>T	19.37:g.45762366C>T						MARK4_ENST00000262891.4_Silent_p.G57G	p.G57G	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	2	468	+		all_neural(266;0.224)|Ovarian(192;0.231)	57					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.171C>T	CCDS56097.1																																																																																				0.647	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		28	171	0	0	0	1	0	28	171					T	45762366	C	T	45762366	2	4	79	1	0	0	0	0	0	0	0	1	9356	697	25	2		2	MARK4	19	45762366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93964	45762366	13366617	19379	29696											
MARK4	57787	broad.mit.edu	37	chr19	45774951	45774951	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggctccctgcccttcgaCgggcacaacctcaaggtacc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45774951C>T	ENST00000262891.4	+	8	1102	c.771C>T	c.(769-771)gaC>gaT	p.D257D	MARK4_ENST00000300843.4_Silent_p.D257D	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCCTTCGACGGGCACAACC	0.667																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(769-771)gaC>gaT		MAP/microtubule affinity-regulating kinase 4							47	52	50					19																	45774951		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45774951C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.771C>T	19.37:g.45774951C>T						MARK4_ENST00000262891.4_Silent_p.D257D	p.D257D	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	1068	+		all_neural(266;0.224)|Ovarian(192;0.231)	257			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.771C>T	CCDS56097.1																																																																																				0.667	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		98	371	0	0	0	1	0	98	371					T	45774951	C	T	45774951	2	4	79	1	0	0	0	0	0	0	0	1	9356	535	19	1		1	MARK4	19	45774951	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12585	45774951	13354032	19380	29697											
MARK4	57787	broad.mit.edu	37	chr19	45781209	45781209	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgagtactcagagggaAgtaccgggtccctttctaca	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45781209A>C	ENST00000262891.4	+	9	1146	c.815A>C	c.(814-816)aAg>aCg	p.K272T	MARK4_ENST00000300843.4_Missense_Mutation_p.K272T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCAGAGGGAAGTACCGGGTC	0.577																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(814-816)aAg>aCg		MAP/microtubule affinity-regulating kinase 4							99	102	101					19																	45781209		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45781209A>C	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.815A>C	19.37:g.45781209A>C	ENSP00000262891:p.Lys272Thr					MARK4_ENST00000262891.4_Missense_Mutation_p.K272T	p.K272T	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	9	1112	+		all_neural(266;0.224)|Ovarian(192;0.231)	272			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.815A>C	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.356875	0.82243	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.66638	-0.22;-0.22	4.19	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	0.85682	D	0.000000	T	0.66406	0.2786	N	0.11284	0.12	0.80722	D	1	P;P;P	0.40066	0.701;0.518;0.462	D;P;P	0.64410	0.925;0.825;0.732	T	0.71988	-0.4426	10	0.87932	D	0	.	11.5216	0.50553	1.0:0.0:0.0:0.0	.	138;272;272	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	T	302;272;272	ENSP00000262891:K272T;ENSP00000300843:K272T	ENSP00000262891:K272T	K	+	2	0	MARK4	50473049	1.000000	0.71417	0.967000	0.41034	0.974000	0.67602	8.993000	0.93524	1.906000	0.55180	0.379000	0.24179	AAG		0.577	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		69	322	0	0	0	1	0	69	322					C	45781209	A	C	45781209	3	2	79	1	0	0	0	0	1	0	0	0	9356	72	3	4	849	4	MARK4	19	45781209	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6258	45781209	13347774	19381	29698											
MARK4	57787	broad.mit.edu	37	chr19	45805679	45805679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaccgccccccggctgctccGattcccctggagtgtgaagc	11	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805679G>A	ENST00000262891.4	+	17	2301	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	MARK4_ENST00000300843.4_Missense_Mutation_p.D684N	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	657					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGCTGCTCCGATTCCCCTGG	0.652																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2050-2052)Gat>Aat		MAP/microtubule affinity-regulating kinase 4							157	166	163					19																	45805679		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805679G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1970G>A	19.37:g.45805679G>A	ENSP00000262891:p.Arg657Gln					MARK4_ENST00000262891.4_Missense_Mutation_p.R657Q	p.D684N	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2347	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.2050G>A	CCDS56097.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.997807|3.997807	0.74818|0.74818	.|.	.|.	ENSG00000007047|ENSG00000007047	ENST00000300843|ENST00000262891	T|T	0.72051|0.53206	-0.62|0.63	5.4|5.4	4.35|4.35	0.52113|0.52113	.|Kinase-associated KA1 (2);	.|0.106561	.|0.40728	.|N	.|0.001033	T|T	0.51941|0.51941	0.1704|0.1704	M|M	0.72894|0.72894	2.215|2.215	0.26359|0.26359	N|N	0.977081|0.977081	D|D	0.56746|0.61080	0.977|0.989	P|P	0.46510|0.45377	0.519|0.478	T|T	0.55159|0.55159	-0.8184|-0.8184	9|10	0.87932|0.87932	D|D	0|0	.|.	14.0502|14.0502	0.64732|0.64732	0.0:0.1519:0.8481:0.0|0.0:0.1519:0.8481:0.0	.|.	684|657	Q96L34-2|Q96L34	.|MARK4_HUMAN	N|Q	684|657	ENSP00000300843:D684N|ENSP00000262891:R657Q	ENSP00000300843:D684N|ENSP00000262891:R657Q	D|R	+|+	1|2	0|0	MARK4|MARK4	50497519|50497519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.044000|7.044000	0.76578|0.76578	1.254000|1.254000	0.44035|0.44035	0.563000|0.563000	0.77884|0.77884	GAT|CGA		0.652	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		244	1112	0	0	0	1	0	244	1112					A	45805679	G	A	45805679	3	1	79	1	0	0	0	0	1	0	0	0	9356	1058	37	1	2120	1	MARK4	19	45805679	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24470	45805679	13323304	19382	29699											
CKM	1158	broad.mit.edu	37	chr19	45810739	45810739	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtacccctcttctgcagaCgcaggcgggtgaggatctcc	12	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45810739C>T	ENST00000221476.3	-	7	1121	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	316	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CTTCTGCAGACGCAGGCGGGT	0.637																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(946-948)cGt>cAt		creatine kinase, muscle	Creatine(DB00148)						60	57	58					19																	45810739		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810739C>T	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.947G>A	19.37:g.45810739C>T	ENSP00000221476:p.Arg316His						p.R316H	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	7	1121	-		Ovarian(192;0.0336)|all_neural(266;0.112)	316			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.947G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834522	0.91036	.	.	ENSG00000104879	ENST00000221476	T	0.23754	1.89	5.3	5.3	0.74995	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.050664	0.85682	N	0.000000	T	0.52484	0.1737	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.53774	-0.8391	10	0.51188	T	0.08	-38.8761	16.4485	0.83972	0.0:1.0:0.0:0.0	.	316	P06732	KCRM_HUMAN	H	316	ENSP00000221476:R316H	ENSP00000221476:R316H	R	-	2	0	CKM	50502579	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	6.049000	0.71053	2.500000	0.84329	0.561000	0.74099	CGT		0.637	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			11	115	0	0	0	1	0	11	115					T	45810739	C	T	45810739	3	4	79	1	0	0	0	0	1	0	0	0	3457	536	19	1	206	1	CKM	19	45810739	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5060	45810739	13318244	19383	29700											
CKM	1158	broad.mit.edu	37	chr19	45821181	45821181	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagagttccttgaaaaCttcgtaggactcctcatcac	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821181C>A	ENST00000221476.3	-	3	424	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	84	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)	TCCTTGAAAACTTCGTAGGAC	0.557																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(250-252)Gtt>Ttt		creatine kinase, muscle	Creatine(DB00148)						108	88	95					19																	45821181		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45821181C>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.250G>T	19.37:g.45821181C>A	ENSP00000221476:p.Val84Phe						p.V84F	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	3	424	-		Ovarian(192;0.0336)|all_neural(266;0.112)	84			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.250G>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131791	0.56828	.	.	ENSG00000104879	ENST00000221476	T	0.68765	-0.35	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.209227	0.39687	N	0.001295	D	0.84705	0.5531	H	0.97240	3.965	0.80722	D	1	P	0.49559	0.925	P	0.53809	0.735	D	0.90235	0.4282	10	0.87932	D	0	-12.8929	15.0581	0.71930	0.0:1.0:0.0:0.0	.	84	P06732	KCRM_HUMAN	F	84	ENSP00000221476:V84F	ENSP00000221476:V84F	V	-	1	0	CKM	50513021	1.000000	0.71417	0.056000	0.19401	0.042000	0.13812	7.283000	0.78640	2.418000	0.82041	0.650000	0.86243	GTT		0.557	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			37	200	1	0	6.03168e-27	1	6.96966e-27	37	200					A	45821181	C	A	45821181	3	1	79	1	0	0	0	0	1	0	0	0	3457	565	20	3	919	3	CKM	19	45821181	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10442	45821181	13307802	19384	29701											
CKM	1158	broad.mit.edu	37	chr19	45821219	45821219	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccagccacgcagcccacgGtcatgatgaaggggtgacct	12	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821219G>T	ENST00000221476.3	-	3	386	c.212C>A	c.(211-213)aCc>aAc	p.T71N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	71	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)	GCAGCCCACGGTCATGATGAA	0.602																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(211-213)aCc>aAc		creatine kinase, muscle	Creatine(DB00148)						59	50	53					19																	45821219		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45821219G>T	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.212C>A	19.37:g.45821219G>T	ENSP00000221476:p.Thr71Asn						p.T71N	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	3	386	-		Ovarian(192;0.0336)|all_neural(266;0.112)	71			Phosphagen kinase N-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.212C>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941778	0.73557	.	.	ENSG00000104879	ENST00000221476	T	0.65549	-0.16	4.62	4.62	0.57501	ATP:guanido phosphotransferase, N-terminal (4);	0.057508	0.64402	D	0.000001	T	0.72003	0.3407	M	0.89601	3.045	0.46678	D	0.999158	B	0.33198	0.401	B	0.38655	0.278	T	0.75886	-0.3159	10	0.45353	T	0.12	-32.8407	15.0581	0.71930	0.0:0.0:1.0:0.0	.	71	P06732	KCRM_HUMAN	N	71	ENSP00000221476:T71N	ENSP00000221476:T71N	T	-	2	0	CKM	50513059	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	9.215000	0.95146	2.418000	0.82041	0.650000	0.86243	ACC		0.602	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			29	174	1	0	8.16721e-17	1	8.9905e-17	29	174					T	45821219	G	T	45821219	3	4	79	1	0	0	0	0	1	0	0	0	3457	1261	44	3	957	3	CKM	19	45821219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	45821219	13307764	19385	29702											
ERCC2	2068	broad.mit.edu	37	chr19	45867704	45867704	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgttgtgggcctcgtcgaaGaccacgacggccttgcgggc	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45867704G>T	ENST00000391945.4	-	8	773	c.696C>A	c.(694-696)gtC>gtA	p.V232V	ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000485403.2_Silent_p.V208V|ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000221481.6_Intron	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	232	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)		CCTCGTCGAAGACCACGACGG	0.632			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"Mis, N, F, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"			E		"skin basal cell, skin squamous cell, melanoma"			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(694-696)gtC>gtA	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							43	37	39					19																	45867704		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867704G>T		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.696C>A	19.37:g.45867704G>T						ERCC2_ENST00000391940.4_Silent_p.V208V|ERCC2_ENST00000391944.3_Silent_p.V154V|ERCC2_ENST00000485403.2_Silent_p.V208V|ERCC2_ENST00000221481.6_Intron	p.V232V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	773	-		Ovarian(192;0.0728)|all_neural(266;0.112)	232			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.696C>A	CCDS33049.1																																																																																				0.632	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		28	168	1	0	1.77063e-15	1	1.9355e-15	28	168					T	45867704	G	T	45867704	2	4	79	1	0	0	0	0	0	0	0	1	5231	929	33	3		3	ERCC2	19	45867704	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46485	45867704	13261279	19386	29703											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885941	45885941	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctgtagtcccagagagcGtacactgccccgctgttcat	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45885941G>A	ENST00000418234.2	-	12	2370	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	764	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			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)		CCCAGAGAGCGTACACTGCCC	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2290-2292)taC>taT		protein phosphatase 1, regulatory subunit 13 like							62	51	55					19																	45885941		2203	4300	6503	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45885941G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2292C>T	19.37:g.45885941G>A						PPP1R13L_ENST00000360957.5_Silent_p.Y764Y	p.Y764Y	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	12	2370	-		all_neural(266;0.224)|Ovarian(192;0.231)	764			SH3.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2292C>T	CCDS33050.1																																																																																				0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		58	235	0	0	0	1	0	58	235					A	45885941	G	A	45885941	2	1	79	1	0	0	0	0	0	0	0	1	12405	1140	40	1		1	PPP1R13L	19	45885941	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18237	45885941	13243042	19387	29704											
PPP1R13L	10848	broad.mit.edu	37	chr19	45888926	45888926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagattgcagcgccgtgCtgcaccagcgccatgcagat	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45888926C>T	ENST00000418234.2	-	11	2220	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	714					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)		CAGCGCCGTGCTGCACCAGCG	0.662																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2140-2142)caG>caA		protein phosphatase 1, regulatory subunit 13 like							55	46	49					19																	45888926		2201	4298	6499	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45888926C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.2142G>A	19.37:g.45888926C>T						PPP1R13L_ENST00000360957.5_Silent_p.Q714Q	p.Q714Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	11	2220	-		all_neural(266;0.224)|Ovarian(192;0.231)	714					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.2142G>A	CCDS33050.1																																																																																				0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		40	211	0	0	0	1	0	40	211					T	45888926	C	T	45888926	2	4	79	1	0	0	0	0	0	0	0	1	12405	796	28	2		2	PPP1R13L	19	45888926	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2985	45888926	13240057	19388	29705											
PPP1R13L	10848	broad.mit.edu	37	chr19	45889369	45889369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcgtccaggaggagcaCcagagggttgaggcgcgcgc	18	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45889369C>T	ENST00000418234.2	-	9	1963	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	629					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)		AGGAGGAGCACCAGAGGGTTG	0.736																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1885-1887)Gtg>Atg		protein phosphatase 1, regulatory subunit 13 like							8	9	9					19																	45889369		2184	4267	6451	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889369C>T	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1885G>A	19.37:g.45889369C>T	ENSP00000403902:p.Val629Met					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.V629M	p.V629M	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	9	1963	-		all_neural(266;0.224)|Ovarian(192;0.231)	629					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1885G>A	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052486	0.55218	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.58060	0.36;0.36	4.99	4.99	0.66335	Src homology-3 domain (1);Ankyrin repeat-containing domain (2);	0.197616	0.44285	D	0.000463	T	0.55940	0.1952	N	0.19112	0.55	0.42107	D	0.991363	D;D	0.71674	0.998;0.997	P;P	0.61800	0.894;0.886	T	0.62291	-0.6885	10	0.87932	D	0	.	15.8232	0.78676	0.0:1.0:0.0:0.0	.	629;208	Q8WUF5;A7YME7	IASPP_HUMAN;.	M	629;629;203	ENSP00000403902:V629M;ENSP00000354218:V629M	ENSP00000221478:V203M	V	-	1	0	PPP1R13L	50581209	1.000000	0.71417	0.994000	0.49952	0.718000	0.41266	5.135000	0.64777	2.601000	0.87937	0.561000	0.74099	GTG		0.736	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		7	46	0	0	0	1	0	7	46					T	45889369	C	T	45889369	3	4	79	1	0	0	0	0	1	0	0	0	12405	507	18	2	621	2	PPP1R13L	19	45889369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	443	45889369	13239614	19389	29706											
ERCC1	2067	broad.mit.edu	37	chr19	45918173	45918173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtccgctggtttctgCtcataggccttgtaggtctc	13	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45918173C>T	ENST00000300853.3	-	7	1239	c.648G>A	c.(646-648)gaG>gaA	p.E216E	ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000340192.7_Silent_p.E216E	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	216					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)		CTGGTTTCTGCTCATAGGCCT	0.602								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(646-648)gaG>gaA	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)							109	93	99					19																	45918173		2203	4300	6503	SO:0001819	synonymous_variant	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45918173C>T		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.648G>A	19.37:g.45918173C>T						ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000423698.2_Silent_p.E144E|ERCC1_ENST00000013807.5_Silent_p.E216E|ERCC1_ENST00000589165.1_Silent_p.E216E|ERCC1_ENST00000340192.7_Silent_p.E216E	p.E216E	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	7	1239	-		Ovarian(192;0.051)|all_neural(266;0.112)	216					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	c.648G>A	CCDS12662.1																																																																																				0.602	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		45	276	0	0	0	1	0	45	276					T	45918173	C	T	45918173	2	4	79	1	0	0	0	0	0	0	0	1	5230	796	28	2		2	ERCC1	19	45918173	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28804	45918173	13210810	19390	29707											
ERCC1	2067	broad.mit.edu	37	chr19	45924573	45924573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggctgtgagatggcatattCggcgtaggtctgaggggccg	18	7	1	2	rs150584960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45924573C>T	ENST00000300853.3	-	3	775	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K|ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	62					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)		ATGGCATATTCGGCGTAGGTC	0.642								Nucleotide excision repair (NER)																														ENST00000300853.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15						c.(184-186)Gaa>Aaa	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	79	76	77		184,184,184	4.8	0.9	19	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense,missense	ERCC1	NM_001166049.1,NM_001983.3,NM_202001.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	62/274,62/298,62/324	45924573	1,13005	2203	4300	6503	SO:0001583	missense	2067				mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	g.chr19:45924573C>T		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.184G>A	19.37:g.45924573C>T	ENSP00000300853:p.Glu62Lys					ERCC1_ENST00000591636.1_Missense_Mutation_p.E62K|ERCC1_ENST00000423698.2_Intron|ERCC1_ENST00000013807.5_Missense_Mutation_p.E62K|ERCC1_ENST00000589165.1_Missense_Mutation_p.E62K|ERCC1_ENST00000340192.7_Missense_Mutation_p.E62K	p.E62K	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0247)	3	775	-		Ovarian(192;0.051)|all_neural(266;0.112)	62					B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	c.184G>A	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548848	0.45383	2.27E-4	0.0	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000013807	T;T;T	0.44083	0.95;0.95;0.93	4.78	4.78	0.61160	.	0.247214	0.38272	N	0.001752	T	0.30448	0.0765	L	0.27053	0.805	0.32274	N	0.568456	D;P;D	0.59357	0.985;0.94;0.957	B;B;B	0.43155	0.41;0.269;0.225	T	0.26360	-1.0105	10	0.19147	T	0.46	-33.5429	13.6581	0.62349	0.0:1.0:0.0:0.0	.	62;62;62	Q7Z7F5;Q96S40;P07992	.;.;ERCC1_HUMAN	K	62	ENSP00000300853:E62K;ENSP00000345203:E62K;ENSP00000013807:E62K	ENSP00000013807:E62K	E	-	1	0	ERCC1	50616413	0.950000	0.32346	0.932000	0.37286	0.053000	0.15095	2.455000	0.44988	2.372000	0.80975	0.491000	0.48974	GAA		0.642	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1	NM_001983		82	364	0	0	0	1	0	82	364					T	45924573	C	T	45924573	3	4	79	1	0	0	0	0	1	0	0	0	5230	893	31	1	870	1	ERCC1	19	45924573	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6400	45924573	13204410	19391	29708											
RTN2	6253	broad.mit.edu	37	chr19	45991740	45991740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactcacctggtgctgccGgtacagcagggggatggtga	15	11	1	1	rs199848753		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45991740G>A	ENST00000245923.4	-	9	1721	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RTN2_ENST00000590526.1_Missense_Mutation_p.R222W|RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W|PPM1N_ENST00000401705.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	496	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGGTGCTGCCGGTACAGCAGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17968	0.0		0.001	False		,,,				2504	0.0					ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(664-666)Cgg>Tgg		reticulon 2							105	100	101					19																	45991740		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45991740G>A	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.1486C>T	19.37:g.45991740G>A	ENSP00000245923:p.Arg496Trp					RTN2_ENST00000245923.4_Missense_Mutation_p.R496W|RTN2_ENST00000430715.2_Missense_Mutation_p.R156W|RTN2_ENST00000344680.4_Missense_Mutation_p.R423W	p.R222W			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	9	1790	-		Ovarian(192;0.051)|all_neural(266;0.112)	496					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.664C>T	CCDS12665.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.65	3.866636	0.72065	.	.	ENSG00000125744	ENST00000344680;ENST00000245923;ENST00000430715	T;T;T	0.43688	0.94;0.94;0.94	5.58	3.28	0.37604	.	0.243600	0.34411	N	0.003995	T	0.48768	0.1518	L	0.29908	0.895	0.30776	N	0.742524	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	T	0.52351	-0.8587	10	0.87932	D	0	-11.9043	10.3065	0.43683	0.0:0.0:0.6272:0.3728	.	423;496	O75298-2;O75298	.;RTN2_HUMAN	W	423;496;156	ENSP00000345127:R423W;ENSP00000245923:R496W;ENSP00000398178:R156W	ENSP00000245923:R496W	R	-	1	2	RTN2	50683580	0.998000	0.40836	0.993000	0.49108	0.990000	0.78478	0.669000	0.25142	1.314000	0.45095	0.650000	0.86243	CGG		0.567	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		77	340	0	0	0	1	0	77	340					A	45991740	G	A	45991740	3	1	79	1	0	0	0	0	1	0	0	0	13776	1115	39	1	163	1	RTN2	19	45991740	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67167	45991740	13137243	19392	29709											
RTN2	6253	broad.mit.edu	37	chr19	45992145	45992145	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaccaggaagaagtgCcgcagctgcgtggccgccga	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45992145C>T	ENST00000245923.4	-	7	1576	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	RTN2_ENST00000590526.1_Silent_p.R173R|RTN2_ENST00000430715.2_Silent_p.R107R|RTN2_ENST00000344680.4_Silent_p.R374R|PPM1N_ENST00000401705.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	447	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGAAGAAGTGCCGCAGCTGCG	0.637																																						ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(517-519)cgG>cgA		reticulon 2							26	24	25					19																	45992145		2203	4300	6503	SO:0001819	synonymous_variant	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45992145C>T	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.1341G>A	19.37:g.45992145C>T						PPM1N_ENST00000401705.1_5'UTR|RTN2_ENST00000245923.4_Silent_p.R447R|RTN2_ENST00000430715.2_Silent_p.R107R|RTN2_ENST00000344680.4_Silent_p.R374R	p.R173R			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	7	1645	-		Ovarian(192;0.051)|all_neural(266;0.112)	447					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Silent	SNP	ENST00000245923.4	37	c.519G>A	CCDS12665.1																																																																																				0.637	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		14	56	0	0	0	1	0	14	56					T	45992145	C	T	45992145	2	4	79	1	0	0	0	0	0	0	0	1	13776	726	26	2		2	RTN2	19	45992145	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	405	45992145	13136838	19393	29710											
RTN2	6253	broad.mit.edu	37	chr19	45996450	45996450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatcggctccgagtgagaggCtggggacaccgctgcttctc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45996450C>A	ENST00000245923.4	-	5	1236	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000590526.1_Missense_Mutation_p.S60I|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000344680.4_Intron|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	334					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)		GAGTGAGAGGCTGGGGACACC	0.637																																						ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(178-180)aGc>aTc		reticulon 2							83	91	88					19																	45996450		2202	4294	6496	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996450C>A	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.1001G>T	19.37:g.45996450C>A	ENSP00000245923:p.Ser334Ile					PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000245923.4_Missense_Mutation_p.S334I|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000344680.4_Intron	p.S60I			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	5	1305	-		Ovarian(192;0.051)|all_neural(266;0.112)	334					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.179G>T	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835262	0.71373	.	.	ENSG00000125744	ENST00000245923	T	0.48522	0.81	4.42	2.3	0.28687	.	0.963263	0.08459	U	0.942690	T	0.29945	0.0749	N	0.08118	0	0.80722	D	1	P	0.41041	0.736	P	0.44477	0.451	T	0.05338	-1.0891	10	0.21540	T	0.41	-2.4034	6.1929	0.20534	0.0:0.7722:0.0:0.2278	.	334	O75298	RTN2_HUMAN	I	334	ENSP00000245923:S334I	ENSP00000245923:S334I	S	-	2	0	RTN2	50688290	0.995000	0.38212	0.997000	0.53966	0.965000	0.64279	0.486000	0.22340	0.789000	0.33779	0.467000	0.42956	AGC		0.637	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		184	895	1	0	7.31253e-68	1	9.26744e-68	184	895					A	45996450	C	A	45996450	3	1	79	1	0	0	0	0	1	0	0	0	13776	797	28	3	664	3	RTN2	19	45996450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4305	45996450	13132533	19394	29711											
RTN2	6253	broad.mit.edu	37	chr19	45998110	45998110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcagttgaatccctgCggcccccggagcccactaca	13	16	0	1	rs143302045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45998110C>T	ENST00000245923.4	-	3	468	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000396737.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	78					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)		TGAATCCCTGCGGCCCCCGGA	0.692																																						ENST00000245923.4																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(232-234)cGc>cAc		reticulon 2							17	22	21					19																	45998110		2202	4297	6499	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45998110C>T	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.233G>A	19.37:g.45998110C>T	ENSP00000245923:p.Arg78His					RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R78H	p.R78H	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	3	468	-		Ovarian(192;0.051)|all_neural(266;0.112)	78					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.233G>A	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054978	0.55325	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.69040	-0.34;-0.37	5.44	5.44	0.79542	.	0.276624	0.26605	N	0.023450	T	0.73877	0.3643	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.965	T	0.75855	-0.3170	10	0.66056	D	0.02	-16.8413	14.7561	0.69567	0.0:1.0:0.0:0.0	.	78;78	O75298-2;O75298	.;RTN2_HUMAN	H	78	ENSP00000345127:R78H;ENSP00000245923:R78H	ENSP00000245923:R78H	R	-	2	0	RTN2	50689950	1.000000	0.71417	0.949000	0.38748	0.058000	0.15608	2.970000	0.49240	2.561000	0.86390	0.462000	0.41574	CGC		0.692	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		67	200	0	0	0	1	0	67	200					T	45998110	C	T	45998110	3	4	79	1	0	0	0	0	1	0	0	0	13776	768	27	1	1440	1	RTN2	19	45998110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1660	45998110	13130873	19395	29712											
OPA3	80207	broad.mit.edu	37	chr19	46087992	46087992	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggatgcccaagtatagcaGcttcgccatagggaacgcgc	12	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46087992G>T	ENST00000263275.4	-	1	85	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.L11M	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	11					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AAGTATAGCAGCTTCGCCATA	0.622																																						ENST00000263275.4																			0				cervix(1)|large_intestine(1)|lung(2)	4						c.(31-33)Ctg>Atg		optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)							59	57	58					19																	46087992		2203	4300	6503	SO:0001583	missense	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46087992G>T	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.31C>A	19.37:g.46087992G>T	ENSP00000263275:p.Leu11Met					OPA3_ENST00000544371.1_Intron|OPA3_ENST00000323060.3_Missense_Mutation_p.L11M	p.L11M	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	1	85	-		Ovarian(192;0.051)|all_neural(266;0.112)	11					Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	c.31C>A	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323742	0.95708	.	.	ENSG00000125741	ENST00000323060;ENST00000263275	D;D	0.89875	-2.58;-2.58	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	D	0.96084	0.8724	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96565	0.9418	10	0.87932	D	0	0.0627	17.8364	0.88699	0.0:0.0:1.0:0.0	.	11;11	Q9H6K4;Q9H6K4-2	OPA3_HUMAN;.	M	11	ENSP00000319817:L11M;ENSP00000263275:L11M	ENSP00000263275:L11M	L	-	1	2	OPA3	50779832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.704000	0.68347	2.884000	0.98904	0.655000	0.94253	CTG		0.622	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			80	324	1	0	2.80266e-47	1	3.44898e-47	80	324					T	46087992	G	T	46087992	3	4	79	1	0	0	0	0	1	0	0	0	10914	962	34	3	921	3	OPA3	19	46087992	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89882	46087992	13040991	19396	29713											
GPR4	2828	broad.mit.edu	37	chr19	46095003	46095003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgcacctggcggtaggccGcccacagagccaggcagttg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46095003G>A	ENST00000323040.4	-	2	1066	c.122C>T	c.(121-123)gCg>gTg	p.A41V	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	41					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)		GCGGTAGGCCGCCCACAGAGC	0.647																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(121-123)gCg>gTg		G protein-coupled receptor 4							64	52	56					19																	46095003		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46095003G>A	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.122C>T	19.37:g.46095003G>A	ENSP00000319744:p.Ala41Val					OPA3_ENST00000544371.1_Intron	p.A41V	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1066	-			41					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.122C>T	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877137	0.33162	.	.	ENSG00000177464	ENST00000323040	T	0.33216	1.42	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.24353	0.0590	N	0.03999	-0.3	0.42852	D	0.994087	D	0.71674	0.998	P	0.58520	0.84	T	0.05022	-1.0911	10	0.02654	T	1	.	16.0194	0.80472	0.0:0.0:1.0:0.0	.	41	P46093	GPR4_HUMAN	V	41	ENSP00000319744:A41V	ENSP00000319744:A41V	A	-	2	0	GPR4	50786843	0.994000	0.37717	0.993000	0.49108	0.985000	0.73830	2.116000	0.41930	2.365000	0.80145	0.313000	0.20887	GCG		0.647	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		78	366	0	0	0	1	0	78	366					A	46095003	G	A	46095003	3	1	79	1	0	0	0	0	1	0	0	0	6723	1087	38	1	970	1	GPR4	19	46095003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7011	46095003	13033980	19397	29714											
EML2	24139	broad.mit.edu	37	chr19	46124788	46124788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaccccagaggaccacccGccgatcacggccccctccag	9	20	1	2	rs535561853		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46124788G>A	ENST00000245925.3	-	10	999	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	EML2_ENST00000587152.1_Missense_Mutation_p.R518W|EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000536630.1_Missense_Mutation_p.R464W|EML2_ENST00000586902.1_5'Flank	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	317	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGACCACCCGCCGATCACGG	0.687													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13361	0.0		0.0	False		,,,				2504	0.0					ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1390-1392)Cgg>Tgg		echinoderm microtubule associated protein like 2							45	47	46					19																	46124788		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124788G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.949C>T	19.37:g.46124788G>A	ENSP00000245925:p.Arg317Trp					EML2_ENST00000589876.1_Missense_Mutation_p.R317W|EML2_ENST00000245925.3_Missense_Mutation_p.R317W|EML2_ENST00000587152.1_Missense_Mutation_p.R518W	p.R464W	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	13	1528	-		Ovarian(192;0.179)|all_neural(266;0.224)	317					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1390C>T	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164803	0.57476	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.41758	0.99;0.99;4.95	3.2	0.782	0.18567	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.138361	0.45361	D	0.000373	T	0.56441	0.1985	M	0.65975	2.015	0.36928	D	0.891741	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.989;0.971;0.985	T	0.59794	-0.7387	10	0.62326	D	0.03	-16.0349	8.6541	0.34053	0.0:0.0:0.4052:0.5948	.	317;483;464;317	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	W	464;317;475	ENSP00000442365:R464W;ENSP00000245925:R317W;ENSP00000382503:R475W	ENSP00000245925:R317W	R	-	1	2	EML2	50816628	0.012000	0.17670	0.965000	0.40720	0.891000	0.51852	0.382000	0.20635	0.042000	0.15717	0.195000	0.17529	CGG		0.687	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		91	329	0	0	0	1	0	91	329					A	46124788	G	A	46124788	3	1	79	1	0	0	0	0	1	0	0	0	5115	1086	38	1	1040	1	EML2	19	46124788	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29785	46124788	13004195	19398	29715											
EML2	24139	broad.mit.edu	37	chr19	46130084	46130084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtggccaccaatacaGcctcattggagcactttggg	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46130084G>T	ENST00000245925.3	-	8	670	c.620C>A	c.(619-621)gCt>gAt	p.A207D	EML2_ENST00000587152.1_Missense_Mutation_p.A408D|EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000536630.1_Missense_Mutation_p.A354D|EML2_ENST00000586902.1_5'UTR	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	207	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CACCAATACAGCCTCATTGGA	0.582																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1060-1062)gCt>gAt		echinoderm microtubule associated protein like 2							36	32	33					19																	46130084		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46130084G>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.620C>A	19.37:g.46130084G>T	ENSP00000245925:p.Ala207Asp					EML2_ENST00000589876.1_Missense_Mutation_p.A207D|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000245925.3_Missense_Mutation_p.A207D|EML2_ENST00000587152.1_Missense_Mutation_p.A408D	p.A354D	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	11	1199	-		Ovarian(192;0.179)|all_neural(266;0.224)	207					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1061C>A	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285961	0.40394	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.26810	1.71;1.8;4.97	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.181927	0.49305	D	0.000148	T	0.22399	0.0540	N	0.19112	0.55	0.38950	D	0.95832	P;P;B;B;P	0.47409	0.895;0.474;0.181;0.411;0.474	P;B;B;B;B	0.47626	0.552;0.13;0.036;0.075;0.13	T	0.03887	-1.0995	10	0.24483	T	0.36	-14.6841	15.0336	0.71728	0.0:0.0:1.0:0.0	.	207;373;354;365;207	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	D	354;207;408;365	ENSP00000442365:A354D;ENSP00000245925:A207D;ENSP00000382503:A365D	ENSP00000245925:A207D	A	-	2	0	EML2	50821924	1.000000	0.71417	0.943000	0.38184	0.351000	0.29236	7.224000	0.78042	2.397000	0.81536	0.557000	0.71058	GCT		0.582	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		36	148	1	0	4.3181e-19	1	4.80867e-19	36	148					T	46130084	G	T	46130084	3	4	79	1	0	0	0	0	1	0	0	0	5115	971	34	3	1377	3	EML2	19	46130084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5296	46130084	12998899	19399	29716											
QPCTL	54814	broad.mit.edu	37	chr19	46198779	46198779	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcaacacccctggggccaGtggactttggcaatgtggtg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46198779G>T	ENST00000012049.5	+	3	657	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L	SNRPD2_ENST00000587579.1_5'Flank|QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	146					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCTGGGGCCAGTGGACTTTGG	0.622																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(436-438)Gtg>Ttg		glutaminyl-peptide cyclotransferase-like							124	114	117					19																	46198779		2203	4300	6503	SO:0001583	missense	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46198779G>T	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.436G>T	19.37:g.46198779G>T	ENSP00000012049:p.Val146Leu					QPCTL_ENST00000366382.4_Intron	p.V146L	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	3	657	+		Ovarian(192;0.051)|all_neural(266;0.112)	146	Missing (in Ref. 4; AAH11553).				Q53HE4|Q96F74	Missense_Mutation	SNP	ENST00000012049.5	37	c.436G>T	CCDS12672.1	.	.	.	.	.	.	.	.	.	.	g	0.026	-1.368345	0.01225	.	.	ENSG00000011478	ENST00000012049	T	0.22743	1.94	4.72	-6.65	0.01795	.	0.339445	0.28077	N	0.016700	T	0.03739	0.0106	N	0.03268	-0.37	0.21627	N	0.999617	B	0.02656	0.0	B	0.04013	0.001	T	0.36817	-0.9732	10	0.02654	T	1	-10.4789	0.09	0.00039	0.2793:0.1748:0.2162:0.3297	.	146	Q9NXS2	QPCTL_HUMAN	L	146	ENSP00000012049:V146L	ENSP00000012049:V146L	V	+	1	0	QPCTL	50890619	0.000000	0.05858	0.401000	0.26359	0.357000	0.29423	-0.645000	0.05409	-0.462000	0.06984	-1.248000	0.01517	GTG		0.622	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		17	809	1	0	1.37285e-15	1	1.50199e-15	17	809					T	46198779	G	T	46198779	3	4	79	1	0	0	0	0	1	0	0	0	12925	1029	36	3	446	3	QPCTL	19	46198779	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68695	46198779	12930204	19400	29717											
QPCTL	54814	broad.mit.edu	37	chr19	46201906	46201906	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcccggcacctggcccaGctcatggagtctatacctca	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46201906G>A	ENST00000012049.5	+	4	956	c.735G>A	c.(733-735)caG>caA	p.Q245Q	QPCTL_ENST00000366382.4_Silent_p.Q151Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	245					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ACCTGGCCCAGCTCATGGAGT	0.622																																						ENST00000012049.5																			0				breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11						c.(733-735)caG>caA		glutaminyl-peptide cyclotransferase-like							36	40	39					19																	46201906		2203	4300	6503	SO:0001819	synonymous_variant	54814				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	g.chr19:46201906G>A	AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.735G>A	19.37:g.46201906G>A						QPCTL_ENST00000366382.4_Silent_p.Q151Q	p.Q245Q	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)	4	956	+		Ovarian(192;0.051)|all_neural(266;0.112)	245					Q53HE4|Q96F74	Silent	SNP	ENST00000012049.5	37	c.735G>A	CCDS12672.1																																																																																				0.622	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459656.1	NM_017659		44	218	0	0	0	1	0	44	218					A	46201906	G	A	46201906	2	1	79	1	0	0	0	0	0	0	0	1	12925	962	34	2		2	QPCTL	19	46201906	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3127	46201906	12927077	19401	29718											
FBXO46	23403	broad.mit.edu	37	chr19	46216211	46216211	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggccagggctgcccgCtgttccaccagggccaccat	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46216211C>T	ENST00000317683.3	-	2	676	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	181										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCTGCCCGCTGTTCCACCA	0.711																																						ENST00000317683.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15						c.(541-543)caG>caA		F-box protein 46							9	12	11					19																	46216211		2003	4132	6135	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46216211C>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.543G>A	19.37:g.46216211C>T							p.Q181Q	NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	676	-		Ovarian(192;0.179)|all_neural(266;0.224)	181						Silent	SNP	ENST00000317683.3	37	c.543G>A	CCDS46116.1																																																																																				0.711	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		15	59	0	0	0	1	0	15	59					T	46216211	C	T	46216211	2	4	79	1	0	0	0	0	0	0	0	1	5780	796	28	2		2	FBXO46	19	46216211	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14305	46216211	12912772	19402	29719											
SIX5	147912	broad.mit.edu	37	chr19	46271482	46271482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgggagcgctccttgaaGcagtagactgtctcctcgcc	13	14	1	2	rs544606444		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46271482G>A	ENST00000317578.6	-	1	1002	c.621C>T	c.(619-621)tgC>tgT	p.C207C	SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	207					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCTCCTTGAAGCAGTAGACTG	0.687																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(619-621)tgC>tgT		SIX homeobox 5							36	33	34					19																	46271482		2203	4300	6503	SO:0001819	synonymous_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46271482G>A	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.621C>T	19.37:g.46271482G>A						AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron	p.C207C	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	1	1002	-		Ovarian(192;0.0308)|all_neural(266;0.112)	207						Silent	SNP	ENST00000317578.6	37	c.621C>T	CCDS12673.1																																																																																				0.687	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		15	94	0	0	0	1	0	15	94					A	46271482	G	A	46271482	2	1	79	1	0	0	0	0	0	0	0	1	14400	963	34	2		2	SIX5	19	46271482	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55271	46271482	12857501	19403	29720											
DMPK	1760	broad.mit.edu	37	chr19	46275971	46275971	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaagcagctgctcggcCtccagttccatgggtgtggg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46275971C>A	ENST00000291270.4	-	10	1397	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000591530.1_RNA|AC074212.5_ENST00000592217.2_RNA|DMPK_ENST00000600757.1_Missense_Mutation_p.E429D|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	424					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTGCTCGGCCTCCAGTTCCA	0.632																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1285-1287)gaG>gaT		dystrophia myotonica-protein kinase							44	45	45					19																	46275971		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46275971C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1272G>T	19.37:g.46275971C>A	ENSP00000291270:p.Glu424Asp					DMPK_ENST00000291270.4_Missense_Mutation_p.E424D|DMPK_ENST00000354227.5_Missense_Mutation_p.E419D|DMPK_ENST00000343373.4_Missense_Mutation_p.E434D|DMPK_ENST00000447742.2_Missense_Mutation_p.E419D|DMPK_ENST00000458663.2_Missense_Mutation_p.E419D	p.E429D			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	9	1974	-		Ovarian(192;0.0308)|all_neural(266;0.112)	434					E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.1287G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	16.24	3.066487	0.55539	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.67523	-0.27;-0.25;-0.27;-0.26;-0.2	3.87	3.87	0.44632	AGC-kinase, C-terminal (1);	0.000000	0.43747	D	0.000539	T	0.69771	0.3148	L	0.44542	1.39	0.80722	D	1	P;P;P;P;P;P;D;D	0.76494	0.916;0.734;0.907;0.816;0.615;0.849;0.993;0.999	P;B;P;B;B;B;P;P	0.60415	0.631;0.391;0.59;0.311;0.219;0.386;0.864;0.874	T	0.67898	-0.5551	10	0.35671	T	0.21	.	11.5239	0.50569	0.0:1.0:0.0:0.0	.	419;424;450;419;419;424;466;434	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	D	419;450;424;419;419;434;434;419	ENSP00000401753:E419D;ENSP00000291270:E424D;ENSP00000413417:E419D;ENSP00000345997:E434D;ENSP00000346168:E419D	ENSP00000291270:E424D	E	-	3	2	DMPK	50967811	1.000000	0.71417	0.998000	0.56505	0.835000	0.47333	3.471000	0.53107	2.157000	0.67596	0.561000	0.74099	GAG		0.632	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		11	192	1	0	3.86212e-05	1	3.93988e-05	11	192					A	46275971	C	A	46275971	3	1	79	1	0	0	0	0	1	0	0	0	4600	680	24	3	648	3	DMPK	19	46275971	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4489	46275971	12853012	19404	29721											
DMPK	1760	broad.mit.edu	37	chr19	46280710	46280710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaccatcccagtcgaggcCaaagaagaagggatgtgtcc	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46280710C>T	ENST00000291270.4	-	8	1146	c.1021G>A	c.(1021-1023)Ggc>Agc	p.G341S	DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000600757.1_Missense_Mutation_p.G351S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	341	AGC-kinase C-terminal.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAGTCGAGGCCAAAGAAGAAG	0.622																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1051-1053)Ggc>Agc		dystrophia myotonica-protein kinase							55	49	51					19																	46280710		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46280710C>T	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1021G>A	19.37:g.46280710C>T	ENSP00000291270:p.Gly341Ser					DMPK_ENST00000291270.4_Missense_Mutation_p.G341S|DMPK_ENST00000354227.5_Missense_Mutation_p.G341S|DMPK_ENST00000343373.4_Missense_Mutation_p.G351S|DMPK_ENST00000447742.2_Missense_Mutation_p.G341S|DMPK_ENST00000458663.2_Missense_Mutation_p.G341S	p.G351S			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	7	1738	-		Ovarian(192;0.0308)|all_neural(266;0.112)	351			AGC-kinase C-terminal.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.1051G>A	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.522874	0.85600	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000255	T	0.46889	0.1416	N	0.12471	0.22	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;0.999	D;D;D;D;D;D;D;D	0.97110	0.993;0.999;0.999;0.998;0.998;1.0;0.999;0.999	T	0.55903	-0.8067	10	0.87932	D	0	.	15.3423	0.74306	0.0:1.0:0.0:0.0	.	341;341;367;341;341;341;388;351	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	S	341;367;341;341;341;351;351;341	ENSP00000401753:G341S;ENSP00000291270:G341S;ENSP00000413417:G341S;ENSP00000345997:G351S;ENSP00000346168:G341S	ENSP00000291270:G341S	G	-	1	0	DMPK	50972550	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.569000	0.60865	2.554000	0.86153	0.561000	0.74099	GGC		0.622	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		55	309	0	0	0	1	0	55	309					T	46280710	C	T	46280710	3	4	79	1	0	0	0	0	1	0	0	0	4600	594	21	2	907	2	DMPK	19	46280710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4739	46280710	12848273	19405	29722											
DMPK	1760	broad.mit.edu	37	chr19	46281440	46281440	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcggccaggcggatgtggCcacagcggtccagcaggatg	17	11	0	0	rs369279468		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281440C>A	ENST00000291270.4	-	6	745	c.620G>T	c.(619-621)gGc>gTc	p.G207V	DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000600757.1_Missense_Mutation_p.G217V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGGATGTGGCCACAGCGGTC	0.607																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(649-651)gGc>gTc		dystrophia myotonica-protein kinase							71	51	58					19																	46281440		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281440C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.620G>T	19.37:g.46281440C>A	ENSP00000291270:p.Gly207Val					DMPK_ENST00000291270.4_Missense_Mutation_p.G207V|DMPK_ENST00000354227.5_Missense_Mutation_p.G207V|DMPK_ENST00000343373.4_Missense_Mutation_p.G217V|DMPK_ENST00000447742.2_Missense_Mutation_p.G207V|DMPK_ENST00000458663.2_Missense_Mutation_p.G207V	p.G217V			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	5	1337	-		Ovarian(192;0.0308)|all_neural(266;0.112)	217			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.650G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	28.6	4.931895	0.92389	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	4.53	4.53	0.55603	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	0.42294	D	0.000722	T	0.75803	0.3899	M	0.93808	3.46	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.83025	-0.0165	10	0.87932	D	0	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	207;207;233;207;207;207;254;217	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	V	207;233;207;207;207;217;217;207	ENSP00000401753:G207V;ENSP00000291270:G207V;ENSP00000413417:G207V;ENSP00000345997:G217V;ENSP00000346168:G207V	ENSP00000291270:G207V	G	-	2	0	DMPK	50973280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.564000	0.82326	2.330000	0.79161	0.650000	0.86243	GGC		0.607	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		11	98	1	0	3.86212e-05	1	3.93988e-05	11	98					A	46281440	C	A	46281440	3	1	79	1	0	0	0	0	1	0	0	0	4600	739	26	3	1316	3	DMPK	19	46281440	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	730	46281440	12847543	19406	29723											
DMPK	1760	broad.mit.edu	37	chr19	46281893	46281893	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccacgtaatactccatgaCcaggtactgagaaggggttc	11	11	0	2	rs145501208		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281893C>A	ENST00000291270.4	-	5	564	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000595361.1_5'Flank|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000600757.1_Missense_Mutation_p.V157F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TACTCCATGACCAGGTACTGA	0.607																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(469-471)Gtc>Ttc		dystrophia myotonica-protein kinase							53	47	49					19																	46281893		2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46281893C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"	605377	"dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.439G>T	19.37:g.46281893C>A	ENSP00000291270:p.Val147Phe					DMPK_ENST00000291270.4_Missense_Mutation_p.V147F|DMPK_ENST00000354227.5_Missense_Mutation_p.V147F|DMPK_ENST00000343373.4_Missense_Mutation_p.V157F|DMPK_ENST00000447742.2_Missense_Mutation_p.V147F|DMPK_ENST00000458663.2_Missense_Mutation_p.V147F	p.V157F			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	4	1156	-		Ovarian(192;0.0308)|all_neural(266;0.112)	157			Protein kinase.		E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.469G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	25.0	4.591925	0.86953	.	.	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	4.84	3.81	0.43845	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38164	N	0.001799	T	0.72676	0.3490	M	0.85299	2.745	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.83275	0.995;0.983;0.983;0.984;0.984;0.99;0.985;0.996	T	0.76553	-0.2917	10	0.87932	D	0	.	10.7964	0.46464	0.0:0.907:0.0:0.093	.	147;147;173;147;147;147;194;157	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	F	147;173;147;147;147;157;157;147	ENSP00000401753:V147F;ENSP00000291270:V147F;ENSP00000413417:V147F;ENSP00000345997:V157F;ENSP00000346168:V147F	ENSP00000291270:V147F	V	-	1	0	DMPK	50973733	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.663000	0.61532	1.265000	0.44215	0.561000	0.74099	GTC		0.607	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		24	136	1	0	4.16121e-05	1	4.24482e-05	24	136					A	46281893	C	A	46281893	3	1	79	1	0	0	0	0	1	0	0	0	4600	507	18	3	1501	3	DMPK	19	46281893	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	453	46281893	12847090	19407	29724											
SYMPK	8189	broad.mit.edu	37	chr19	46319807	46319807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctggcctccaagatgGtcatgatggagttagggatg	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46319807G>A	ENST00000245934.7	-	25	3531	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1096					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCCAAGATGGTCATGATGGA	0.657																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(3286-3288)aCc>aTc		symplekin							38	41	40					19																	46319807		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46319807G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3287C>T	19.37:g.46319807G>A	ENSP00000245934:p.Thr1096Ile					SYMPK_ENST00000598155.1_5'UTR	p.T1096I	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	25	3531	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1096					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.3287C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655826	0.47467	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.4	4.4	0.53042	.	0.469052	0.22944	N	0.053758	T	0.40979	0.1139	N	0.14661	0.345	0.39075	D	0.960784	B	0.02656	0.0	B	0.10450	0.005	T	0.42865	-0.9426	9	0.66056	D	0.02	.	12.387	0.55338	0.0:0.0:1.0:0.0	.	1096	Q92797	SYMPK_HUMAN	I	1096	.	ENSP00000245934:T1096I	T	-	2	0	SYMPK	51011647	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.164000	0.58190	2.287000	0.76781	0.555000	0.69702	ACC		0.657	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		40	204	0	0	0	1	0	40	204					A	46319807	G	A	46319807	3	1	79	1	0	0	0	0	1	0	0	0	15491	1261	44	2	549	2	SYMPK	19	46319807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37914	46319807	12809176	19408	29725											
SYMPK	8189	broad.mit.edu	37	chr19	46332306	46332306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catacttgtccagggagcccGaggcacctgcggccaggtag	14	13	0	0	rs146919889	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46332306G>A	ENST00000245934.7	-	14	2151	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	636					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGGAGCCCGAGGCACCTGC	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17774	0.0		0.0	False		,,,				2504	0.0					ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1906-1908)tCg>tTg		symplekin							70	69	69					19																	46332306		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332306G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1907C>T	19.37:g.46332306G>A	ENSP00000245934:p.Ser636Leu						p.S636L	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	14	2151	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	636					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1907C>T	CCDS12676.2	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.176	1.022306	0.19433	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.94	3.89	0.44902	Armadillo-type fold (1);	0.507425	0.20457	N	0.091966	T	0.28001	0.0690	M	0.65498	2.005	0.20638	N	0.999872	B;B	0.32862	0.138;0.387	B;B	0.19391	0.009;0.025	T	0.12451	-1.0547	9	0.27785	T	0.31	.	10.702	0.45933	0.0:0.0:0.8091:0.1909	.	651;636	Q4LE61;Q92797	.;SYMPK_HUMAN	L	636	.	ENSP00000245934:S636L	S	-	2	0	SYMPK	51024146	0.291000	0.24352	0.062000	0.19696	0.120000	0.20174	3.211000	0.51137	1.081000	0.41110	0.456000	0.33151	TCG		0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		52	506	0	0	0	1	0	52	506					A	46332306	G	A	46332306	3	1	79	1	0	0	0	0	1	0	0	0	15491	1059	37	1	1973	1	SYMPK	19	46332306	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12499	46332306	12796677	19409	29726											
SYMPK	8189	broad.mit.edu	37	chr19	46341750	46341750	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattatcaggcgtcagcagaGgctgcaggaactcagctgtg	13	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46341750G>T	ENST00000245934.7	-	10	1455	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	404					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGTCAGCAGAGGCTGCAGGAA	0.602																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1210-1212)cCt>cAt		symplekin							69	53	59					19																	46341750		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46341750G>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1211C>A	19.37:g.46341750G>T	ENSP00000245934:p.Pro404His						p.P404H	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	10	1455	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	404					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.1211C>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012652	0.75161	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.75	5.75	0.90469	Armadillo-type fold (1);	0.057465	0.64402	D	0.000001	T	0.66157	0.2761	M	0.61703	1.905	0.80722	D	1	P;P	0.51240	0.943;0.612	P;B	0.50617	0.646;0.417	T	0.65809	-0.6078	9	0.45353	T	0.12	.	17.4878	0.87693	0.0:0.0:1.0:0.0	.	419;404	Q4LE61;Q92797	.;SYMPK_HUMAN	H	404	.	ENSP00000245934:P404H	P	-	2	0	SYMPK	51033590	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.615000	0.90920	2.729000	0.93468	0.558000	0.71614	CCT		0.602	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		22	99	1	0	1.55469e-16	1	1.70887e-16	22	99					T	46341750	G	T	46341750	3	4	79	1	0	0	0	0	1	0	0	0	15491	1000	35	3	2685	3	SYMPK	19	46341750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9444	46341750	12787233	19410	29727											
SYMPK	8189	broad.mit.edu	37	chr19	46345746	46345746	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcgtcgggggcaggttGgctgtgaggaaagtggcagg	21	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	ENST00000245934.7	-	9	1093	c.849C>T	c.(847-849)gcC>gcT	p.A283A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	283					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGCAGGTTGGCTGTGAGGA	0.557																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.e9-1		symplekin							55	56	56					19																	46345746		2203	4300	6503	SO:0001630	splice_region_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46345746G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.848-1C>T	19.37:g.46345746G>A							p.A283_splice	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	9	1093	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	283					O00521|O00689|O00733|Q59GT5|Q8N2U5	Splice_Site	SNP	ENST00000245934.7	37	c.847_splice	CCDS12676.2																																																																																				0.557	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	Silent	71	351	0	0	0	1	0	71	351					A	46345746	G	A	46345746	5	1	79	1	0	0	0	0	0	0	1	0	15491	1362	47	2	3051	2	SYMPK	19	46345746	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3996	46345746	12783237	19411	29728											
SYMPK	8189	broad.mit.edu	37	chr19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccatgcggggtgacaGggtgacaatgaggccctcca	15	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(580-582)Ctg>Atg		symplekin							111	92	98					19																	46351106		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351106G>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.580C>A	19.37:g.46351106G>T	ENSP00000245934:p.Leu194Met						p.L194M	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	824	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	194					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.580C>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253472	0.59212	.	.	ENSG00000125755	ENST00000245934	T	0.51325	0.71	5.5	2.29	0.28610	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.57242	0.2040	M	0.63843	1.955	0.41784	D	0.989833	D;P	0.63046	0.992;0.849	D;P	0.65573	0.936;0.811	T	0.52764	-0.8532	10	0.35671	T	0.21	.	7.2308	0.26040	0.335:0.0:0.665:0.0	.	209;194	Q4LE61;Q92797	.;SYMPK_HUMAN	M	194	ENSP00000245934:L194M	ENSP00000245934:L194M	L	-	1	2	SYMPK	51042946	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.346000	0.44027	0.452000	0.26830	0.655000	0.94253	CTG		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		40	190	1	0	5.04308e-16	1	5.52873e-16	40	190					T	46351106	G	T	46351106	3	4	79	1	0	0	0	0	1	0	0	0	15491	991	35	3	3328	3	SYMPK	19	46351106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5360	46351106	12777877	19412	29729											
FOXA3	3171	broad.mit.edu	37	chr19	46376245	46376245	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgtggggtttgggggctacGgggctgaaggtggggagcct	22	6	0	1	rs377404065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46376245G>A	ENST00000302177.2	+	2	1179	c.982G>A	c.(982-984)Ggg>Agg	p.G328R		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	328					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)		TGGGGGCTACGGGGCTGAAGG	0.562																																						ENST00000302177.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13						c.(982-984)Ggg>Agg		forkhead box A3		G	ARG/GLY	0,4404		0,0,2202	36	32	34		982	4.5	0.7	19		34	1,8599	1.2+/-3.3	0,1,4299	no	missense	FOXA3	NM_004497.2	125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	328/351	46376245	1,13003	2202	4300	6502	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46376245G>A	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.982G>A	19.37:g.46376245G>A	ENSP00000304004:p.Gly328Arg						p.G328R	NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	1179	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	328					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.982G>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922531	0.52653	0.0	1.16E-4	ENSG00000170608	ENST00000302177	D	0.91894	-2.93	4.53	4.53	0.55603	.	0.524241	0.19272	N	0.118370	D	0.94450	0.8214	L	0.52573	1.65	0.44462	D	0.99739	D	0.89917	1.0	D	0.80764	0.994	D	0.94693	0.7876	10	0.87932	D	0	.	15.1292	0.72507	0.0:0.0:1.0:0.0	.	328	P55318	FOXA3_HUMAN	R	328	ENSP00000304004:G328R	ENSP00000304004:G328R	G	+	1	0	FOXA3	51068085	1.000000	0.71417	0.672000	0.29872	0.456000	0.32438	3.948000	0.56660	2.502000	0.84385	0.579000	0.79373	GGG		0.562	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1			23	109	0	0	0	1	0	23	109					A	46376245	G	A	46376245	3	1	79	1	0	0	0	0	1	0	0	0	6016	1116	39	1	988	1	FOXA3	19	46376245	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25139	46376245	12752738	19413	29730											
IRF2BP1	26145	broad.mit.edu	37	chr19	46389025	46389025	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggcggcgggacgcctgcacaGacgccatggccccagtccgc	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46389025G>T	ENST00000302165.3	-	1	351	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCCTGCACAGACGCCATGGC	0.731																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(7-9)tCt>tAt		interferon regulatory factor 2 binding protein 1							12	11	11					19																	46389025		2159	4240	6399	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46389025G>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.8C>A	19.37:g.46389025G>T	ENSP00000307265:p.Ser3Tyr						p.S3Y	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	351	-		all_neural(266;0.113)|Ovarian(192;0.127)	3					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.8C>A	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558266	0.65538	.	.	ENSG00000170604	ENST00000302165	T	0.48836	0.8	3.41	1.19	0.21007	.	0.119053	0.36034	U	0.002838	T	0.42988	0.1227	N	0.22421	0.69	0.41761	D	0.989712	D	0.69078	0.997	P	0.59221	0.854	T	0.34675	-0.9819	10	0.62326	D	0.03	.	5.916	0.19055	0.2537:0.0:0.7463:0.0	.	3	Q8IU81	I2BP1_HUMAN	Y	3	ENSP00000307265:S3Y	ENSP00000307265:S3Y	S	-	2	0	IRF2BP1	51080865	1.000000	0.71417	0.292000	0.24919	0.980000	0.70556	6.545000	0.73883	0.260000	0.21731	0.462000	0.41574	TCT		0.731	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		24	56	1	0	4.26978e-12	1	4.57227e-12	24	56					T	46389025	G	T	46389025	3	4	79	1	0	0	0	0	1	0	0	0	7859	942	33	3	1750	3	IRF2BP1	19	46389025	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12780	46389025	12739958	19414	29731											
MYPOP	339344	broad.mit.edu	37	chr19	46404623	46404623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagagggggccgcagGgggctcctccgccccagcac	16	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46404623G>A	ENST00000322217.5	-	2	495	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGGGCCGCAGGGGGCTCCTCC	0.711																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(409-411)Cct>Tct		Myb-related transcription factor, partner of profilin							4	6	5					19																	46404623		1949	3842	5791	SO:0001583	missense	339344					nucleus	DNA binding	g.chr19:46404623G>A	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.409C>T	19.37:g.46404623G>A	ENSP00000325402:p.Pro137Ser						p.P137S	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			2	495	-			137			Pro-rich.			Missense_Mutation	SNP	ENST00000322217.5	37	c.409C>T	CCDS33055.1	.	.	.	.	.	.	.	.	.	.	G	8.733	0.917012	0.17907	.	.	ENSG00000176182	ENST00000322217	T	0.42513	0.97	4.58	-0.437	0.12272	.	0.790677	0.10333	N	0.687286	T	0.19886	0.0478	N	0.19112	0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.28554	-1.0040	10	0.07325	T	0.83	0.0021	4.0573	0.09823	0.3018:0.1732:0.5251:0.0	.	137	Q86VE0	MYPOP_HUMAN	S	137	ENSP00000325402:P137S	ENSP00000325402:P137S	P	-	1	0	MYPOP	51096463	0.002000	0.14202	0.441000	0.26858	0.933000	0.57130	0.225000	0.17757	0.060000	0.16281	0.462000	0.41574	CCT		0.711	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		10	29	0	0	0	1	0	10	29					A	46404623	G	A	46404623	3	1	79	1	0	0	0	0	1	0	0	0	10140	1232	43	2	798	2	MYPOP	19	46404623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15598	46404623	12724360	19415	29732											
NOVA2	4858	broad.mit.edu	37	chr19	46443145	46443145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccactttctgggggtttgaGgccctcactccctgctcgta	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46443145G>A	ENST00000263257.5	-	4	1649	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	485					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)		GGGGGTTTGAGGCCCTCACTC	0.647																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21						c.(1453-1455)gcC>gcT		neuro-oncological ventral antigen 2							43	46	45					19																	46443145		2203	4300	6503	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443145G>A	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.1455C>T	19.37:g.46443145G>A							p.A485A	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1649	-		all_neural(266;0.113)|Ovarian(192;0.127)	485					O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.1455C>T	CCDS12679.1																																																																																				0.647	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		64	262	0	0	0	1	0	64	262					A	46443145	G	A	46443145	2	1	79	1	0	0	0	0	0	0	0	1	10597	987	35	2		2	NOVA2	19	46443145	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38522	46443145	12685838	19416	29733											
IGFL3	388555	broad.mit.edu	37	chr19	46627247	46627247	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggccaaaagactcgggacaGcagagctcaaagcagggcca	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46627247G>T	ENST00000341415.2	-	3	270	c.246C>A	c.(244-246)tgC>tgA	p.C82*	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	82						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)		ACTCGGGACAGCAGAGCTCAA	0.532																																						ENST00000341415.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(244-246)tgC>tgA		IGF-like family member 3							91	113	106					19																	46627247		2185	4300	6485	SO:0001587	stop_gained	388555					extracellular region	protein binding	g.chr19:46627247G>T	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.246C>A	19.37:g.46627247G>T	ENSP00000344860:p.Cys82*					AC007193.6_ENST00000597989.1_lincRNA	p.C82*	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	270	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	82						Nonsense_Mutation	SNP	ENST00000341415.2	37	c.246C>A	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745593	0.49151	.	.	ENSG00000188624	ENST00000341415	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.2435	6.749	0.23477	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000344860:C82X	C	-	3	2	IGFL3	51319087	0.984000	0.35163	0.825000	0.32803	0.111000	0.19643	1.977000	0.40589	1.217000	0.43442	0.411000	0.27672	TGC		0.532	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		211	816	1	0	9.14329e-105	1	1.17647e-104	211	816					T	46627247	G	T	46627247	4	4	79	1	0	0	0	0	0	1	0	0	7618	963	34	3	139	3	IGFL3	19	46627247	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	184102	46627247	12501736	19417	29734											
HIF3A	64344	broad.mit.edu	37	chr19	46811543	46811543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaagaggagcttcaggaCgccctgaccccccagcagag	12	15	1	3	rs373645502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46811543C>T	ENST00000377670.4	+	4	460	c.429C>T	c.(427-429)gaC>gaT	p.D143D	HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000339613.2_Silent_p.D87D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Silent_p.D74D|RNU6-924P_ENST00000362926.1_RNA	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	143	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)		AGCTTCAGGACGCCCTGACCC	0.607																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(259-261)gaC>gaT		hypoxia inducible factor 3, alpha subunit		C	,,,	2,4404	4.2+/-10.8	0,2,2201	126	114	118		222,423,429,222	-7.6	0.8	19		118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HIF3A	NM_022462.4,NM_152794.3,NM_152795.3,NM_152796.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	74/601,141/668,143/670,74/451	46811543	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46811543C>T	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.429C>T	19.37:g.46811543C>T						HIF3A_ENST00000472815.1_Silent_p.D74D|HIF3A_ENST00000420102.2_Silent_p.D92D|HIF3A_ENST00000377670.4_Silent_p.D143D|HIF3A_ENST00000244303.6_Silent_p.D74D|HIF3A_ENST00000300862.3_Silent_p.D141D|HIF3A_ENST00000600383.1_Silent_p.D74D|HIF3A_ENST00000525854.1_3'UTR	p.D87D			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	4	516	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	143			PAS 1.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.261C>T	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630319	0.14257	4.54E-4	0.0	ENSG00000124440	ENST00000472815	.	.	.	3.86	-7.63	0.01290	.	.	.	.	.	T	0.50684	0.1630	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57063	-0.7875	4	.	.	.	.	10.3415	0.43882	0.0:0.1631:0.1122:0.7247	.	.	.	.	C	116	.	.	R	+	1	0	HIF3A	51503383	0.000000	0.05858	0.823000	0.32752	0.993000	0.82548	-5.642000	0.00107	-1.573000	0.01659	0.561000	0.74099	CGC		0.607	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			100	475	0	0	0	1	0	100	475					T	46811543	C	T	46811543	2	4	79	1	0	0	0	0	0	0	0	1	7135	535	19	1		1	HIF3A	19	46811543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	184296	46811543	12317440	19418	29735											
CCDC8	83987	broad.mit.edu	37	chr19	46915898	46915898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtgctcttctccatgatgCgggccacgtcctccagggtg	14	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46915898C>T	ENST00000307522.3	-	1	943	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	57					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctccatgatgcgggccacgtc	0.642																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(169-171)cGc>cAc		coiled-coil domain containing 8							45	50	48					19																	46915898		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915898C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.170G>A	19.37:g.46915898C>T	ENSP00000303158:p.Arg57His						p.R57H	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	943	-			57					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.170G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460660	0.63513	.	.	ENSG00000169515	ENST00000307522;ENST00000540252	T	0.14022	2.54	4.42	2.31	0.28768	.	0.000000	0.40908	D	0.000990	T	0.10508	0.0257	M	0.64997	1.995	0.09310	N	0.999998	P	0.51653	0.947	B	0.35813	0.211	T	0.26985	-1.0087	10	0.37606	T	0.19	-7.8103	6.0197	0.19623	0.0:0.7715:0.0:0.2285	.	57	Q9H0W5	CCDC8_HUMAN	H	57	ENSP00000303158:R57H	ENSP00000303158:R57H	R	-	2	0	CCDC8	51607738	0.996000	0.38824	0.406000	0.26421	0.959000	0.62525	1.658000	0.37376	1.164000	0.42652	-0.237000	0.12165	CGC		0.642	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		78	382	0	0	0	1	0	78	382					T	46915898	C	T	46915898	3	4	79	1	0	0	0	0	1	0	0	0	2860	768	27	1	1450	1	CCDC8	19	46915898	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104355	46915898	12213085	19419	29736											
PNMAL1	55228	broad.mit.edu	37	chr19	46971816	46971816	+	3'UTR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtatgggtggtcccccaGatcaaacctttctggattct	9	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46971816G>T	ENST00000313683.10	-	0	1627				PNMAL1_ENST00000602246.1_Missense_Mutation_p.L79M|PNMAL1_ENST00000438932.2_Missense_Mutation_p.L373M	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1											cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tggtcccccagatcaaacctt	0.418																																						ENST00000438932.2																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1117-1119)Ctg>Atg		paraneoplastic Ma antigen family-like 1							139	131	134					19																	46971816		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55228							g.chr19:46971816G>T	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.*2C>A	19.37:g.46971816G>T						PNMAL1_ENST00000602246.1_Missense_Mutation_p.L79M|PNMAL1_ENST00000313683.10_3'UTR	p.L373M			Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	3	1266	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	0					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.1117C>A	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	G	7.811	0.715735	0.15306	.	.	ENSG00000182013	ENST00000438932	T	0.20738	2.05	3.12	0.823	0.18812	.	.	.	.	.	T	0.23926	0.0579	.	.	.	0.09310	N	1	P	0.42357	0.777	P	0.47705	0.555	T	0.15321	-1.0441	8	0.87932	D	0	.	4.8059	0.13319	0.7164:0.0:0.2836:0.0	.	373	Q86V59-2	.	M	373	ENSP00000410273:L373M	ENSP00000410273:L373M	L	-	1	2	PNMAL1	51663656	0.000000	0.05858	0.006000	0.13384	0.066000	0.16364	-0.160000	0.10041	0.137000	0.18759	-0.459000	0.05422	CTG		0.418	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		67	356	1	0	5.00936e-31	1	5.8875e-31	67	356					T	46971816	G	T	46971816	1	4	79	0	1	0	0	0	0	0	0	0	12199	933	33	3		3	PNMAL1	19	46971816	3'UTR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55918	46971816	12157167	19420	29737											
PNMAL1	55228	broad.mit.edu	37	chr19	46974141	46974141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgagcacgcggtacgggCccagtggggagaggacccca	17	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46974141C>A	ENST00000313683.10	-	2	457	c.152G>T	c.(151-153)gGc>gTc	p.G51V	PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	51										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gcggtacgggcccagtgggga	0.542																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(151-153)gGc>gTc		paraneoplastic Ma antigen family-like 1							72	59	64					19																	46974141		2203	4300	6503	SO:0001583	missense	55228							g.chr19:46974141C>A	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.152G>T	19.37:g.46974141C>A	ENSP00000318131:p.Gly51Val					PNMAL1_ENST00000602246.1_Missense_Mutation_p.G51V|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G51V	p.G51V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	457	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	51					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	ENST00000313683.10	37	c.152G>T	CCDS33059.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529399	0.64860	.	.	ENSG00000182013	ENST00000438932;ENST00000313683;ENST00000417103	T;T	0.15256	2.44;2.44	3.8	3.8	0.43715	.	0.000000	0.41605	D	0.000845	T	0.39172	0.1068	M	0.74258	2.255	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.17623	-1.0363	10	0.56958	D	0.05	-13.2325	11.4785	0.50312	0.0:1.0:0.0:0.0	.	51;51	Q86V59-2;Q86V59	.;PNML1_HUMAN	V	51	ENSP00000410273:G51V;ENSP00000318131:G51V	ENSP00000318131:G51V	G	-	2	0	PNMAL1	51665981	0.999000	0.42202	0.933000	0.37362	0.704000	0.40688	3.328000	0.52052	2.421000	0.82119	0.561000	0.74099	GGC		0.542	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		34	202	1	0	2.08457e-15	1	2.27777e-15	34	202					A	46974141	C	A	46974141	3	1	79	1	0	0	0	0	1	0	0	0	12199	739	26	3	1197	3	PNMAL1	19	46974141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2325	46974141	12154842	19421	29738											
PNMAL2	57469	broad.mit.edu	37	chr19	46998046	46998046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcagcggcctgcagcGtggcgtacagcgcgctctgg	16	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998046G>A	ENST00000377655.2	-	1	676	c.677C>T	c.(676-678)aCg>aTg	p.T226M	AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.T226M			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	226										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGCCTGCAGCGTGGCGTACAG	0.667																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(676-678)aCg>aTg		paraneoplastic Ma antigen family-like 2							40	35	37					19																	46998046		2203	4300	6503	SO:0001583	missense	57469							g.chr19:46998046G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.677C>T	19.37:g.46998046G>A	ENSP00000366883:p.Thr226Met					PNMAL2_ENST00000377655.2_Missense_Mutation_p.T226M|AC011484.1_ENST00000377652.3_Missense_Mutation_p.V53M|PNMAL2_ENST00000594749.1_Intron	p.T226M	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1709	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	226					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.677C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.567606|2.567606	0.45694|0.45694	.|.	.|.	ENSG00000204851|ENSG00000204850	ENST00000377655|ENST00000377652	T|.	0.27104|.	1.69|.	2.06|2.06	0.988|0.988	0.19796|0.19796	.|.	.|.	.|.	.|.	.|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P|D	0.40681|0.65815	0.727|0.995	B|P	0.24269|0.47786	0.052|0.557	T|T	0.11179|0.11179	-1.0598|-1.0598	9|8	0.56958|0.87932	D|D	0.05|0	-8.9284|-8.9284	4.7389|4.7389	0.13003|0.13003	0.1903:0.0:0.8097:0.0|0.1903:0.0:0.8097:0.0	.|.	226|53	Q9ULN7|Q6ZVU4	PNML2_HUMAN|.	M|M	226|53	ENSP00000366883:T226M|.	ENSP00000366883:T226M|ENSP00000366880:V53M	T|V	-|+	2|1	0|0	PNMAL2|AC011484.1	51689886|51689886	0.016000|0.016000	0.18221|0.18221	0.002000|0.002000	0.10522|0.10522	0.221000|0.221000	0.24807|0.24807	0.638000|0.638000	0.24674|0.24674	0.409000|0.409000	0.25649|0.25649	0.491000|0.491000	0.48974|0.48974	ACG|GTG		0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		7	141	0	0	0	1	0	7	141					A	46998046	G	A	46998046	3	1	79	1	0	0	0	0	1	0	0	0	12200	1145	40	1	1234	1	PNMAL2	19	46998046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23905	46998046	12130937	19422	29739											
PNMAL2	57469	broad.mit.edu	37	chr19	46998367	46998367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccgggggtcccagcctccGcggcctgcgtgggcccgtca	15	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998367G>A	ENST00000377655.2	-	1	355	c.356C>T	c.(355-357)gCg>gTg	p.A119V	AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T|PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.A119V			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	119										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCAGCCTCCGCGGCCTGCGT	0.692																																						ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(355-357)gCg>gTg		paraneoplastic Ma antigen family-like 2							56	62	60					19																	46998367		2203	4299	6502	SO:0001583	missense	57469							g.chr19:46998367G>A	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.356C>T	19.37:g.46998367G>A	ENSP00000366883:p.Ala119Val					PNMAL2_ENST00000377655.2_Missense_Mutation_p.A119V|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T|PNMAL2_ENST00000594749.1_Intron	p.A119V	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	1388	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	119					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.356C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.44|11.44	1.640729|1.640729	0.29157|0.29157	.|.	.|.	ENSG00000204850|ENSG00000204851	ENST00000377652|ENST00000377655	.|T	.|0.10005	.|2.92	1.55|1.55	0.391|0.391	0.16282|0.16282	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	D|P	0.54601|0.44478	0.967|0.836	B|B	0.31016|0.26310	0.123|0.068	T|T	0.38650|0.38650	-0.9651|-0.9651	8|9	0.87932|0.59425	D|D	0|0.04	-5.9318|-5.9318	4.7488|4.7488	0.13050|0.13050	0.0:0.0:0.5568:0.4432|0.0:0.0:0.5568:0.4432	.|.	160|119	Q6ZVU4|Q9ULN7	.|PNML2_HUMAN	T|V	160|119	.|ENSP00000366883:A119V	ENSP00000366880:A160T|ENSP00000366883:A119V	A|A	+|-	1|2	0|0	AC011484.1|PNMAL2	51690207|51690207	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	0.596000|0.596000	0.24044|0.24044	0.136000|0.136000	0.18733|0.18733	0.462000|0.462000	0.41574|0.41574	GCG|GCG		0.692	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		157	590	0	0	0	1	0	157	590					A	46998367	G	A	46998367	3	1	79	1	0	0	0	0	1	0	0	0	12200	1087	38	1	1555	1	PNMAL2	19	46998367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	321	46998367	12130616	19423	29740											
PRKD2	25865	broad.mit.edu	37	chr19	47178333	47178333	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgtccacgctgtagcgtTtgcgcatcttcacctgcagc	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47178333T>G	ENST00000291281.4	-	17	2606	c.2381A>C	c.(2380-2382)aAa>aCa	p.K794T	PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.K794T|DACT3-AS1_ENST00000525008.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	794	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)		GCTGTAGCGTTTGCGCATCTT	0.567																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2380-2382)aAa>aCa		protein kinase D2							98	66	77					19																	47178333		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47178333T>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2381A>C	19.37:g.47178333T>G	ENSP00000291281:p.Lys794Thr					PRKD2_ENST00000601806.1_Missense_Mutation_p.K637T|PRKD2_ENST00000600194.1_Missense_Mutation_p.K637T|PRKD2_ENST00000595515.1_Missense_Mutation_p.K804T|PRKD2_ENST00000291281.4_Missense_Mutation_p.K794T|DACT3-AS1_ENST00000525008.1_RNA	p.K794T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	18	2858	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	794			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2381A>C	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184267	0.94885	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68479	-0.33;-0.33	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.76414	0.3984	L	0.53780	1.695	0.80722	D	1	D;P;D	0.55800	0.973;0.645;0.965	P;B;P	0.62014	0.837;0.271;0.897	T	0.78994	-0.1984	10	0.87932	D	0	-45.8839	14.6862	0.69052	0.0:0.0:0.0:1.0	.	804;279;794	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	T	794	ENSP00000291281:K794T;ENSP00000393978:K794T	ENSP00000291281:K794T	K	-	2	0	PRKD2	51870173	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.982000	0.88131	2.169000	0.68431	0.533000	0.62120	AAA		0.567	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		8	69	0	0	0	1	0	8	69					G	47178333	T	G	47178333	3	3	79	1	0	0	0	0	1	0	0	0	12566	1841	64	4	263	4	PRKD2	19	47178333	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179966	47178333	11950650	19424	29741											
PRKD2	25865	broad.mit.edu	37	chr19	47194999	47194999	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagtgtcctcacctccataGaccactccaaactgccctga	6	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47194999G>T	ENST00000291281.4	-	12	1920	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	PRKD2_ENST00000595515.1_Silent_p.V565V|PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000433867.1_Silent_p.V565V|RN7SL364P_ENST00000473668.2_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	565	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)		CACCTCCATAGACCACTCCAA	0.587																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1693-1695)gtC>gtA		protein kinase D2							89	87	88					19																	47194999		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47194999G>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1695C>A	19.37:g.47194999G>T						PRKD2_ENST00000601806.1_Silent_p.V408V|PRKD2_ENST00000600194.1_Silent_p.V408V|PRKD2_ENST00000595515.1_Silent_p.V565V|PRKD2_ENST00000291281.4_Silent_p.V565V	p.V565V	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	13	2172	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	565			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.1695C>A	CCDS12689.1																																																																																				0.587	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		72	387	1	0	4.20717e-43	1	5.13249e-43	72	387					T	47194999	G	T	47194999	2	4	79	1	0	0	0	0	0	0	0	1	12566	929	33	3		3	PRKD2	19	47194999	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16666	47194999	11933984	19425	29742											
PRKD2	25865	broad.mit.edu	37	chr19	47197201	47197201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcagggcctggcggatggCtgtctcccagccccgggcgg	16	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47197201C>T	ENST00000291281.4	-	10	1732	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000433867.1_Missense_Mutation_p.A503T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	503	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)		TGGCGGATGGCTGTCTCCCAG	0.697																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1507-1509)Gcc>Acc		protein kinase D2							48	48	48					19																	47197201		2203	4298	6501	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47197201C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1507G>A	19.37:g.47197201C>T	ENSP00000291281:p.Ala503Thr					PRKD2_ENST00000601806.1_Missense_Mutation_p.A346T|PRKD2_ENST00000600194.1_Missense_Mutation_p.A346T|PRKD2_ENST00000595515.1_Missense_Mutation_p.A503T|PRKD2_ENST00000291281.4_Missense_Mutation_p.A503T	p.A503T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	11	1984	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	503			PH.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1507G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132859	0.94517	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.25912	1.77;1.77	5.08	5.08	0.68730	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.097594	0.45361	D	0.000367	T	0.41003	0.1140	M	0.70595	2.14	0.58432	D	0.999998	B;B	0.33748	0.423;0.423	B;B	0.43445	0.42;0.42	T	0.32745	-0.9895	10	0.52906	T	0.07	-18.0442	17.6955	0.88281	0.0:1.0:0.0:0.0	.	503;503	E7ER94;Q9BZL6	.;KPCD2_HUMAN	T	503	ENSP00000291281:A503T;ENSP00000393978:A503T	ENSP00000291281:A503T	A	-	1	0	PRKD2	51889041	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	7.688000	0.84153	2.554000	0.86153	0.555000	0.69702	GCC		0.697	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		81	308	0	0	0	1	0	81	308					T	47197201	C	T	47197201	3	4	79	1	0	0	0	0	1	0	0	0	12566	797	28	2	1165	2	PRKD2	19	47197201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2202	47197201	11931782	19426	29743											
PRKD2	25865	broad.mit.edu	37	chr19	47207843	47207843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgacaggcgccgtttgCgggccccactacagttgttg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47207843C>T	ENST00000291281.4	-	4	800	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R192H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	192					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)		GCGCCGTTTGCGGGCCCCACT	0.647											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(574-576)cGc>cAc		protein kinase D2							40	44	43					19																	47207843		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47207843C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.575G>A	19.37:g.47207843C>T	ENSP00000291281:p.Arg192His		OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_ENST00000601806.1_Missense_Mutation_p.R35H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R35H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R192H|PRKD2_ENST00000291281.4_Missense_Mutation_p.R192H	p.R192H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	5	1052	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	192					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.575G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586441	0.96578	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68331	-0.32;-0.32	5.4	5.4	0.78164	.	0.169690	0.38217	U	0.001763	T	0.76688	0.4022	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.58620	0.983;0.983	P;P	0.56127	0.792;0.714	T	0.79140	-0.1926	10	0.72032	D	0.01	-40.6081	17.9478	0.89044	0.0:1.0:0.0:0.0	.	192;192	E7ER94;Q9BZL6	.;KPCD2_HUMAN	H	192	ENSP00000291281:R192H;ENSP00000393978:R192H	ENSP00000291281:R192H	R	-	2	0	PRKD2	51899683	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.453000	0.80700	2.535000	0.85469	0.313000	0.20887	CGC		0.647	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		44	260	0	0	0	1	0	44	260					T	47207843	C	T	47207843	3	4	79	1	0	0	0	0	1	0	0	0	12566	768	27	1	2121	1	PRKD2	19	47207843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10642	47207843	11921140	19427	29744											
STRN4	29888	broad.mit.edu	37	chr19	47223960	47223960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcctcgtgcttcttgcGgtgggccgtgatctcctgca	13	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47223960G>A	ENST00000263280.6	-	17	2210	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	STRN4_ENST00000391910.3_Missense_Mutation_p.R728C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	721						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.R721C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTTCTTGCGGTGGGCCGTG	0.627																																						ENST00000391910.3																			1	Substitution - Missense(1)	p.R721C(1)	large_intestine(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(2182-2184)Cgc>Tgc		striatin, calmodulin binding protein 4							160	112	128					19																	47223960		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47223960G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2161C>T	19.37:g.47223960G>A	ENSP00000263280:p.Arg721Cys					STRN4_ENST00000263280.6_Missense_Mutation_p.R721C|STRN4_ENST00000539396.1_Missense_Mutation_p.R602C	p.R728C			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	17	2632	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	721					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.2182C>T	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082450	0.76528	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.67865	-0.29;-0.24;-0.12	4.45	4.45	0.53987	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	0.85120	0.5624	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.95	D	0.88983	0.3409	10	0.87932	D	0	-21.4832	16.0134	0.80420	0.0:0.0:1.0:0.0	.	728;721	F8VYA6;Q9NRL3	.;STRN4_HUMAN	C	728;721;602	ENSP00000375777:R728C;ENSP00000263280:R721C;ENSP00000440901:R602C	ENSP00000263280:R721C	R	-	1	0	STRN4	51915800	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.632000	0.67819	2.294000	0.77228	0.462000	0.41574	CGC		0.627	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			42	210	0	0	0	1	0	42	210					A	47223960	G	A	47223960	3	1	79	1	0	0	0	0	1	0	0	0	15383	1116	39	1	104	1	STRN4	19	47223960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16117	47223960	11905023	19428	29745											
STRN4	29888	broad.mit.edu	37	chr19	47228829	47228829	+	Missense_Mutation	SNP	C	C	T													tgtggtggaaggccagggaaCgaatgccgtcgtagtgcgag							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228829C>T	ENST00000263280.6	-	10	1374	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	STRN4_ENST00000391910.3_Missense_Mutation_p.R449H|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	442						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCCAGGGAACGAATGCCGTC	0.612																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1345-1347)cGt>cAt		striatin, calmodulin binding protein 4							84	84	84					19																	47228829		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228829C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1325G>A	19.37:g.47228829C>T	ENSP00000263280:p.Arg442His					STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.R442H|STRN4_ENST00000539396.1_Missense_Mutation_p.R323H	p.R449H			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1796	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	442					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1346G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993046	0.93167	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.62105	0.05;0.05;0.05	4.92	4.92	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	T	0.76371	0.3978	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78339	-0.2242	10	0.59425	D	0.04	-23.8563	16.8978	0.86105	0.0:1.0:0.0:0.0	.	449;442	F8VYA6;Q9NRL3	.;STRN4_HUMAN	H	449;442;323	ENSP00000375777:R449H;ENSP00000263280:R442H;ENSP00000440901:R323H	ENSP00000263280:R442H	R	-	2	0	STRN4	51920669	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.774000	0.68906	2.290000	0.77057	0.561000	0.74099	CGT		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			49	190	0	0	0	1	0	49	190					T	47228829	C	T	47228829	3	4	79	1	0	0	0	0	1	0	0	0	15383	536	19	1	968	1	STRN4	19	47228829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4869	47228829	11900154	19429	29746	192	2									
STRN4	29888	broad.mit.edu	37	chr19	47228837	47228837	+	Silent	SNP	G	G	A													aaggccagggaacgaatgccGtcgtagtgcgagcgcagggt					rs145271240	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228837G>A	ENST00000263280.6	-	10	1366	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	STRN4_ENST00000391910.3_Silent_p.D446D|STRN4_ENST00000539396.1_Silent_p.D320D|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	439						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AACGAATGCCGTCGTAGTGCG	0.612																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1336-1338)gaC>gaT		striatin, calmodulin binding protein 4		G	,	9,4397	15.5+/-35.6	0,9,2194	97	95	96		1338,1317	-8.3	0.4	19	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	STRN4	NM_001039877.1,NM_013403.2	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	446/761,439/754	47228837	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228837G>A	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1317C>T	19.37:g.47228837G>A						STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.D439D|STRN4_ENST00000539396.1_Silent_p.D320D	p.D446D			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1788	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	439					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Silent	SNP	ENST00000263280.6	37	c.1338C>T	CCDS12690.1																																																																																				0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			26	219	0	0	0	1	0	26	219					A	47228837	G	A	47228837	2	1	79	1	0	0	0	0	0	0	0	1	15383	1136	40	1		1	STRN4	19	47228837	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	47228837	11900146	19430	29747	192	2									
STRN4	29888	broad.mit.edu	37	chr19	47228870	47228870	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcagggtgaacttggggttCcacgtcttcttaaaagcatc	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228870C>T	ENST00000263280.6	-	10	1333	c.1284G>A	c.(1282-1284)tgG>tgA	p.W428*	STRN4_ENST00000391910.3_Nonsense_Mutation_p.W435*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*|STRN4_ENST00000594357.2_5'UTR|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	428						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACTTGGGGTTCCACGTCTTCT	0.607																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1303-1305)tgG>tgA		striatin, calmodulin binding protein 4							109	108	109					19																	47228870		2203	4300	6503	SO:0001587	stop_gained	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47228870C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1284G>A	19.37:g.47228870C>T	ENSP00000263280:p.Trp428*					STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Nonsense_Mutation_p.W428*|STRN4_ENST00000539396.1_Nonsense_Mutation_p.W309*	p.W435*			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	10	1755	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	428					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Nonsense_Mutation	SNP	ENST00000263280.6	37	c.1305G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435333	0.96150	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0279	16.8978	0.86105	0.0:1.0:0.0:0.0	.	.	.	.	X	435;428;309	.	ENSP00000263280:W428X	W	-	3	0	STRN4	51920710	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.537000	0.82033	2.290000	0.77057	0.561000	0.74099	TGG		0.607	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			30	211	0	0	0	1	0	30	211					T	47228870	C	T	47228870	4	4	79	1	0	0	0	0	0	1	0	0	15383	856	30	2	1009	2	STRN4	19	47228870	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	47228870	11900113	19431	29748											
STRN4	29888	broad.mit.edu	37	chr19	47232005	47232005	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcatcctcgtcttcCatttcgggcaccagagcctt	6	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232005C>T	ENST00000263280.6	-	7	958	c.909G>A	c.(907-909)atG>atA	p.M303I	STRN4_ENST00000391910.3_Missense_Mutation_p.M303I|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I|STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	303						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCGTCTTCCATTTCGGGCA	0.577																																						ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(907-909)atG>atA		striatin, calmodulin binding protein 4							94	90	91					19																	47232005		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47232005C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.909G>A	19.37:g.47232005C>T	ENSP00000263280:p.Met303Ile					STRN4_ENST00000263280.6_Missense_Mutation_p.M303I|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.M184I	p.M303I			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1359	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	303					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.909G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507207	0.44558	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.63096	-0.02;-0.02;0.1	4.64	2.47	0.30058	.	0.375150	0.27936	N	0.017251	T	0.32556	0.0833	N	0.02539	-0.55	0.35125	D	0.76744	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.20207	-1.0282	10	0.37606	T	0.19	-11.0569	8.5626	0.33520	0.0:0.8136:0.0:0.1864	.	303;303	F8VYA6;Q9NRL3	.;STRN4_HUMAN	I	303;303;184;184	ENSP00000375777:M303I;ENSP00000263280:M303I;ENSP00000440901:M184I	ENSP00000263280:M303I	M	-	3	0	STRN4	51923845	1.000000	0.71417	0.974000	0.42286	0.835000	0.47333	1.872000	0.39549	0.561000	0.29186	0.561000	0.74099	ATG		0.577	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			88	429	0	0	0	1	0	88	429					T	47232005	C	T	47232005	3	4	79	1	0	0	0	0	1	0	0	0	15383	594	21	2	1417	2	STRN4	19	47232005	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3135	47232005	11896978	19432	29749											
STRN4	29888	broad.mit.edu	37	chr19	47232016	47232016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcttccatttcgggcaCcagagccttggatgggagct	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232016C>T	ENST00000263280.6	-	7	947	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	STRN4_ENST00000391910.3_Missense_Mutation_p.V300M|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M|STRN4_ENST00000594357.2_5'Flank|CTB-174O21.2_ENST00000600716.1_RNA	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	300						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATTTCGGGCACCAGAGCCTTG	0.557											OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391910.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(898-900)Gtg>Atg		striatin, calmodulin binding protein 4							87	84	85					19																	47232016		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47232016C>T	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.898G>A	19.37:g.47232016C>T	ENSP00000263280:p.Val300Met		OREG0025579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	STRN4_ENST00000263280.6_Missense_Mutation_p.V300M|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.V181M	p.V300M			Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	7	1348	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	300					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.898G>A	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019671	0.35606	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.64260	-0.08;-0.09;0.04	4.64	3.56	0.40772	.	0.391047	0.25869	N	0.027773	T	0.47322	0.1439	L	0.32530	0.975	0.27214	N	0.959839	B;B	0.21452	0.056;0.004	B;B	0.25405	0.06;0.003	T	0.40794	-0.9544	10	0.46703	T	0.11	-5.7765	6.0249	0.19650	0.0:0.7031:0.1954:0.1015	.	300;300	F8VYA6;Q9NRL3	.;STRN4_HUMAN	M	300;300;181;181	ENSP00000375777:V300M;ENSP00000263280:V300M;ENSP00000440901:V181M	ENSP00000263280:V300M	V	-	1	0	STRN4	51923856	0.997000	0.39634	0.762000	0.31397	0.787000	0.44495	2.773000	0.47686	1.115000	0.41800	0.561000	0.74099	GTG		0.557	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			11	500	0	0	0	1	0	11	500					T	47232016	C	T	47232016	3	4	79	1	0	0	0	0	1	0	0	0	15383	507	18	2	1428	2	STRN4	19	47232016	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11	47232016	11896967	19433	29750											
FKRP	79147	broad.mit.edu	37	chr19	47259280	47259280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgccgcgccccgctgCgacgccctggacggagatgc	14	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47259280C>T	ENST00000318584.5	+	4	870	c.573C>T	c.(571-573)tgC>tgT	p.C191C	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.C191C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	191					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGCCCCGCTGCGACGCCCTGG	0.741																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(571-573)tgC>tgT		fukutin related protein							4	5	5					19																	47259280		1924	3799	5723	SO:0001819	synonymous_variant	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259280C>T	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.573C>T	19.37:g.47259280C>T						FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Silent_p.C191C	p.C191C	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	870	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	191					A8K5G7	Silent	SNP	ENST00000318584.5	37	c.573C>T	CCDS12691.1																																																																																				0.741	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		13	41	0	0	0	1	0	13	41					T	47259280	C	T	47259280	2	4	79	1	0	0	0	0	0	0	0	1	5942	776	27	1		1	FKRP	19	47259280	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27264	47259280	11869703	19434	29751											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423229	47423229	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaaagagttgagatgCgaagggcgtttaaagaaaac	13	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47423229C>T	ENST00000404338.3	+	1	1297	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	433	FF 3.				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.R433*(2)									AGTTGAGATGCGAAGGGCGTT	0.463																																						ENST00000404338.3																			2	Substitution - Nonsense(2)	p.R433*(2)	endometrium(2)								c.(1297-1299)Cga>Tga		Rho GTPase activating protein 35							84	80	82					19																	47423229		1886	4099	5985	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423229C>T	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.1297C>T	19.37:g.47423229C>T	ENSP00000385720:p.Arg433*						p.R433*	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	1297	+			433			FF 3.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.1297C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011903	0.93346	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	6.03	-3.54	0.04653	.	0.091446	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-16.3658	20.4143	0.99026	0.3296:0.6704:0.0:0.0	.	.	.	.	X	433	.	ENSP00000324820:R433X	R	+	1	2	ARHGAP35	52115069	0.844000	0.29557	0.729000	0.30791	0.897000	0.52465	0.082000	0.14847	-0.494000	0.06669	-0.262000	0.10625	CGA		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		79	366	0	0	0	1	0	79	366					T	47423229	C	T	47423229	4	4	79	1	0	0	0	0	0	1	0	0	6825	760	27	1	1299	1	ARHGAP35	19	47423229	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163949	47423229	11705754	19435	29752											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424817	47424817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taatgctgccgaggcctgtaGcaccaccgaagaggtgttta	12	10	0	1	rs140857154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424817G>A	ENST00000404338.3	+	1	2885	c.2885G>A	c.(2884-2886)aGc>aAc	p.S962N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	962					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)										GAGGCCTGTAGCACCACCGAA	0.463																																						ENST00000404338.3																			0											c.(2884-2886)aGc>aAc		Rho GTPase activating protein 35							62	62	62					19																	47424817		1925	4128	6053	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424817G>A	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.2885G>A	19.37:g.47424817G>A	ENSP00000385720:p.Ser962Asn						p.S962N	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2885	+			962					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2885G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	3.533	-0.095276	0.07010	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.07114	3.22	5.86	5.86	0.93980	.	0.132298	0.64402	D	0.000001	T	0.07908	0.0198	L	0.29908	0.895	0.36519	D	0.870073	P	0.36392	0.551	B	0.37144	0.242	T	0.13388	-1.0511	10	0.06494	T	0.89	-31.9416	18.9487	0.92632	0.0:0.0:1.0:0.0	.	962	Q9NRY4-2	.	N	962	ENSP00000385720:S962N	ENSP00000324820:S962N	S	+	2	0	ARHGAP35	52116657	0.608000	0.26966	1.000000	0.80357	0.990000	0.78478	1.000000	0.29770	2.778000	0.95560	0.655000	0.94253	AGC		0.463	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		71	273	0	0	0	1	0	71	273					A	47424817	G	A	47424817	3	1	79	1	0	0	0	0	1	0	0	0	6825	971	34	2	2887	2	ARHGAP35	19	47424817	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1588	47424817	11704166	19436	29753											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424913	47424913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatatcgagccatcttacaGcctgtttcgagaagacacat	8	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424913G>A	ENST00000404338.3	+	1	2981	c.2981G>A	c.(2980-2982)aGc>aAc	p.S994N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	994					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)										CCATCTTACAGCCTGTTTCGA	0.493																																						ENST00000404338.3																			0											c.(2980-2982)aGc>aAc		Rho GTPase activating protein 35							62	61	61					19																	47424913		1940	4151	6091	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424913G>A	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.2981G>A	19.37:g.47424913G>A	ENSP00000385720:p.Ser994Asn						p.S994N	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2981	+			994					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2981G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559972	0.27827	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08720	3.06	5.76	1.08	0.20341	.	0.813714	0.12204	N	0.489984	T	0.08537	0.0212	L	0.42245	1.32	0.09310	N	0.999994	P	0.36392	0.551	B	0.39531	0.302	T	0.29119	-1.0022	10	0.46703	T	0.11	-4.8785	6.1961	0.20550	0.0699:0.3604:0.4428:0.1268	.	994	Q9NRY4-2	.	N	994	ENSP00000385720:S994N	ENSP00000324820:S994N	S	+	2	0	ARHGAP35	52116753	0.172000	0.23043	0.450000	0.26969	0.803000	0.45373	0.815000	0.27253	0.059000	0.16252	0.655000	0.94253	AGC		0.493	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		25	250	0	0	0	1	0	25	250					A	47424913	G	A	47424913	3	1	79	1	0	0	0	0	1	0	0	0	6825	971	34	2	2983	2	ARHGAP35	19	47424913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	47424913	11704070	19437	29754											
NPAS1	4861	broad.mit.edu	37	chr19	47535606	47535606	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgggaggtcacatcttGcaggtgagtgaggccccttc	13	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47535606G>A	ENST00000602212.1	+	4	649	c.429G>A	c.(427-429)ttG>ttA	p.L143L	NPAS1_ENST00000439365.2_5'Flank|NPAS1_ENST00000449844.2_Silent_p.L143L|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	143	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GTCACATCTTGCAGGTGAGTG	0.642											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000602212.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(427-429)ttG>ttA		neuronal PAS domain protein 1							39	44	42					19																	47535606		2203	4300	6503	SO:0001819	synonymous_variant	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47535606G>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.429G>A	19.37:g.47535606G>A			OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	947	NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Silent_p.L143L	p.L143L			Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	4	649	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	143			PAS 1.		B4DR69|Q99632|Q9BY83	Silent	SNP	ENST00000602212.1	37	c.429G>A	CCDS12694.1																																																																																				0.642	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		92	359	0	0	0	1	0	92	359					A	47535606	G	A	47535606	2	1	79	1	0	0	0	0	0	0	0	1	10604	1310	46	2		2	NPAS1	19	47535606	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110693	47535606	11593377	19438	29755											
NPAS1	4861	broad.mit.edu	37	chr19	47542776	47542776	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactccatggacacatgatcGtcttccgtctcagcctgggt	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47542776G>A	ENST00000602212.1	+	8	1136	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I|NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	306	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		ACACATGATCGTCTTCCGTCT	0.672																																						ENST00000602212.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						c.(916-918)Gtc>Atc		neuronal PAS domain protein 1							34	33	33					19																	47542776		2203	4294	6497	SO:0001583	missense	4861				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr19:47542776G>A	U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.916G>A	19.37:g.47542776G>A	ENSP00000469142:p.Val306Ile					NPAS1_ENST00000602189.1_Missense_Mutation_p.V131I|NPAS1_ENST00000439365.2_Missense_Mutation_p.V130I|NPAS1_ENST00000449844.2_Missense_Mutation_p.V306I	p.V306I			Q99742	NPAS1_HUMAN		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)	8	1136	+		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)	306			PAS 2.		B4DR69|Q99632|Q9BY83	Missense_Mutation	SNP	ENST00000602212.1	37	c.916G>A	CCDS12694.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744551	0.89663	.	.	ENSG00000130751	ENST00000449844;ENST00000439365	T;T	0.29917	2.33;1.55	4.56	4.56	0.56223	PAS (1);	0.000000	0.64402	D	0.000009	T	0.45115	0.1326	L	0.41356	1.27	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;P	0.75484	0.986;0.891	T	0.41520	-0.9504	10	0.66056	D	0.02	.	12.8213	0.57694	0.0:0.0:1.0:0.0	.	130;306	B4DR69;Q99742	.;NPAS1_HUMAN	I	306;130	ENSP00000405290:V306I;ENSP00000398689:V130I	ENSP00000398689:V130I	V	+	1	0	NPAS1	52234616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.388000	0.73195	2.097000	0.63578	0.561000	0.74099	GTC		0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466658.1	NM_002517		71	245	0	0	0	1	0	71	245					A	47542776	G	A	47542776	3	1	79	1	0	0	0	0	1	0	0	0	10604	1145	40	1	942	1	NPAS1	19	47542776	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7170	47542776	11586207	19439	29756											
ZC3H4	23211	broad.mit.edu	37	chr19	47570756	47570756	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctccccttcctcctcctcCgttgggggcggcccagaccc	10	21	0	1	rs561929540	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47570756C>T	ENST00000253048.5	-	15	2806	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	923							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCCTCCGTTGGGGGCG	0.711													C|||	2	0.000399361	0.0	0.0	5008	,	,		13703	0.0		0.0	False		,,,				2504	0.002					ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2767-2769)acG>acA		zinc finger CCCH-type containing 4							38	45	43					19																	47570756		1900	4096	5996	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47570756C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2769G>A	19.37:g.47570756C>T						ZC3H4_ENST00000594019.1_Intron	p.T923T	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2806	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	923					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.2769G>A	CCDS42582.1																																																																																				0.711	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			22	507	0	0	0	1	0	22	507					T	47570756	C	T	47570756	2	4	79	1	0	0	0	0	0	0	0	1	17623	639	23	1		1	ZC3H4	19	47570756	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27980	47570756	11558227	19440	29757											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.7	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	811						7	811	---	---	---	---	-	47572403	CTC	-	47572401	7	5	79	1	0	1	0	1	0	0	0	0	17623	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-IB-7651-01A-11D-2154-08	1645	47572401	11556582	19441	29758											
ZC3H4	23211	broad.mit.edu	37	chr19	47584827	47584827	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggaaaacatgcagtcGtcaccattgatgcagttccc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47584827G>A	ENST00000253048.5	-	11	1420	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	ZC3H4_ENST00000594019.1_Intron|RN7SL533P_ENST00000584468.1_RNA	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	461							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACATGCAGTCGTCACCATTGA	0.542																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1381-1383)gaC>gaT		zinc finger CCCH-type containing 4							140	139	139					19																	47584827		2054	4194	6248	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47584827G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1383C>T	19.37:g.47584827G>A						ZC3H4_ENST00000594019.1_Intron	p.D461D	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	11	1420	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	461					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1383C>T	CCDS42582.1																																																																																				0.542	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			64	326	0	0	0	1	0	64	326					A	47584827	G	A	47584827	2	1	79	1	0	0	0	0	0	0	0	1	17623	1136	40	1		1	ZC3H4	19	47584827	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12426	47584827	11544156	19442	29759											
ZC3H4	23211	broad.mit.edu	37	chr19	47588377	47588377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgttcatccctcctcggCtgccacctcggcctcggccc	8	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47588377C>T	ENST00000253048.5	-	8	1080	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	348	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCTCCTCGGCTGCCACCTCG	0.597																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1042-1044)aGc>aAc		zinc finger CCCH-type containing 4							191	203	199					19																	47588377		2107	4204	6311	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47588377C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1043G>A	19.37:g.47588377C>T	ENSP00000253048:p.Ser348Asn					ZC3H4_ENST00000594019.1_Intron	p.S348N	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	8	1080	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	348			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1043G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721601	0.68959	.	.	ENSG00000130749	ENST00000253048	T	0.17691	2.26	5.97	5.97	0.96955	.	0.504809	0.23924	N	0.043218	T	0.12305	0.0299	N	0.22421	0.69	0.25133	N	0.990553	P	0.34462	0.454	B	0.26614	0.071	T	0.19386	-1.0307	10	0.28530	T	0.3	.	17.3508	0.87323	0.0:1.0:0.0:0.0	.	348	Q9UPT8	ZC3H4_HUMAN	N	348	ENSP00000253048:S348N	ENSP00000253048:S348N	S	-	2	0	ZC3H4	52280217	0.999000	0.42202	0.994000	0.49952	0.995000	0.86356	4.293000	0.59037	2.838000	0.97847	0.561000	0.74099	AGC		0.597	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			171	799	0	0	0	1	0	171	799					T	47588377	C	T	47588377	3	4	79	1	0	0	0	0	1	0	0	0	17623	797	28	2	2900	2	ZC3H4	19	47588377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3550	47588377	11540606	19443	29760											
CCDC9	26093	broad.mit.edu	37	chr19	47763668	47763668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagaaggagaacgtgGcagtggagtcggtgagctcg	19	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47763668G>A	ENST00000221922.6	+	4	421	c.199G>A	c.(199-201)Gca>Aca	p.A67T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	67							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGAACGTGGCAGTGGAGTC	0.622																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(199-201)Gca>Aca		coiled-coil domain containing 9							38	31	34					19																	47763668		2202	4298	6500	SO:0001583	missense	26093							g.chr19:47763668G>A	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.199G>A	19.37:g.47763668G>A	ENSP00000221922:p.Ala67Thr						p.A67T	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	4	421	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	67						Missense_Mutation	SNP	ENST00000221922.6	37	c.199G>A	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	g	11.86	1.764582	0.31228	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.21361	2.01	3.38	3.38	0.38709	.	0.391146	0.23398	N	0.048608	T	0.16385	0.0394	L	0.45137	1.4	0.22639	N	0.998904	P	0.40731	0.728	B	0.37888	0.26	T	0.12811	-1.0533	10	0.15952	T	0.53	-5.1606	12.1213	0.53893	0.0:0.0:1.0:0.0	.	67	Q9Y3X0	CCDC9_HUMAN	T	67	ENSP00000221922:A67T	ENSP00000221922:A67T	A	+	1	0	CCDC9	52455508	0.999000	0.42202	0.737000	0.30932	0.406000	0.30931	3.854000	0.55949	1.907000	0.55213	0.486000	0.48141	GCA		0.622	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		21	80	0	0	0	1	0	21	80					A	47763668	G	A	47763668	3	1	79	1	0	0	0	0	1	0	0	0	2874	1203	42	2	209	2	CCDC9	19	47763668	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	175291	47763668	11365315	19444	29761											
GPR77	27202	broad.mit.edu	37	chr19	47844125	47844125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggaccgccctgtggactgCctggatggcgcctgcctggc	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47844125C>T	ENST00000595464.1	+	2	287	c.69C>T	c.(67-69)tgC>tgT	p.C23C	C5AR2_ENST00000600626.1_Silent_p.C23C|C5AR2_ENST00000257267.2_Silent_p.C23C	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	23					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)										CTGTGGACTGCCTGGATGGCG	0.647																																						ENST00000595464.1																			0											c.(67-69)tgC>tgT		complement component 5a receptor 2							61	63	62					19																	47844125		2203	4300	6503	SO:0001819	synonymous_variant	27202							g.chr19:47844125C>T	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.69C>T	19.37:g.47844125C>T						C5AR2_ENST00000600626.1_Silent_p.C23C|C5AR2_ENST00000257267.2_Silent_p.C23C	p.C23C	NM_001271749.1	NP_001258678.1					2	287	+								B2RA09	Silent	SNP	ENST00000595464.1	37	c.69C>T	CCDS12699.1																																																																																				0.647	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		36	598	0	0	0	1	0	36	598					T	47844125	C	T	47844125	2	4	79	1	0	0	0	0	0	0	0	1	6738	747	26	2		2	GPR77	19	47844125	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80457	47844125	11284858	19445	29762											
DHX34	9704	broad.mit.edu	37	chr19	47856540	47856540	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggagaaagaccctggaCagcccaagcacagcatccca	11	13	0	2	rs201215344		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47856540C>T	ENST00000328771.4	+	2	602	c.253C>T	c.(253-255)Cag>Tag	p.Q85*		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	85					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGACCCTGGACAGCCCAAGCA	0.567																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(253-255)Cag>Tag		DEAH (Asp-Glu-Ala-His) box polypeptide 34							102	102	102					19																	47856540		2203	4300	6503	SO:0001587	stop_gained	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856540C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.253C>T	19.37:g.47856540C>T	ENSP00000331907:p.Gln85*						p.Q85*	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	602	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	85					B4DMY8	Nonsense_Mutation	SNP	ENST00000328771.4	37	c.253C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132073	0.77662	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	.	.	.	5.84	-1.84	0.07809	.	3.498840	0.00550	N	0.000252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-22.3369	2.2393	0.04016	0.1073:0.4364:0.2036:0.2527	.	.	.	.	X	85	.	ENSP00000257252:Q85X	Q	+	1	0	DHX34	52548380	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	0.206000	0.17375	-0.105000	0.12132	0.555000	0.69702	CAG		0.567	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		30	732	0	0	0	1	0	30	732					T	47856540	C	T	47856540	4	4	79	1	0	0	0	0	0	1	0	0	4523	479	17	2	255	2	DHX34	19	47856540	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12415	47856540	11272443	19446	29763											
DHX34	9704	broad.mit.edu	37	chr19	47865893	47865893	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatcggactatgatgccttCgccccctaccccgtcccaga	8	17	0	2	rs138426511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47865893C>T	ENST00000328771.4	+	6	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	512	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATGATGCCTTCGCCCCCTACC	0.642																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1534-1536)ttC>ttT		DEAH (Asp-Glu-Ala-His) box polypeptide 34		C		1,4403		0,1,2201	24	25	25		1536	-2.1	1	19	dbSNP_134	25	0,8598		0,0,4299	no	coding-synonymous	DHX34	NM_014681.5		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		512/1144	47865893	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47865893C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1536C>T	19.37:g.47865893C>T						DHX34_ENST00000471451.1_Intron	p.F512F	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	6	1885	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	512			Helicase C-terminal.		B4DMY8	Silent	SNP	ENST00000328771.4	37	c.1536C>T	CCDS12700.1																																																																																				0.642	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		47	178	0	0	0	1	0	47	178					T	47865893	C	T	47865893	2	4	79	1	0	0	0	0	0	0	0	1	4523	883	31	1		1	DHX34	19	47865893	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9353	47865893	11263090	19447	29764											
DHX34	9704	broad.mit.edu	37	chr19	47870358	47870358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccctggacagctcagagGccctcacacccattgggtcc	12	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47870358G>A	ENST00000328771.4	+	7	2063	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	572					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCTCAGAGGCCCTCACACC	0.667																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1714-1716)Gcc>Acc		DEAH (Asp-Glu-Ala-His) box polypeptide 34							38	37	37					19																	47870358		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47870358G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1714G>A	19.37:g.47870358G>A	ENSP00000331907:p.Ala572Thr					DHX34_ENST00000471451.1_3'UTR	p.A572T	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	7	2063	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	572					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1714G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119434	0.37436	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02631	4.22	5.46	1.91	0.25777	Helicase-associated domain (2);	0.562264	0.16895	N	0.195155	T	0.02119	0.0066	N	0.26162	0.8	0.30097	N	0.807772	B	0.14438	0.01	B	0.17979	0.02	T	0.34279	-0.9835	10	0.19147	T	0.46	-24.4834	6.3607	0.21427	0.2459:0.1443:0.6098:0.0	.	572	Q14147	DHX34_HUMAN	T	572;487	ENSP00000331907:A572T	ENSP00000257252:A487T	A	+	1	0	DHX34	52562193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.792000	0.26929	1.215000	0.43411	0.561000	0.74099	GCC		0.667	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		38	159	0	0	0	1	0	38	159					A	47870358	G	A	47870358	3	1	79	1	0	0	0	0	1	0	0	0	4523	1203	42	2	1736	2	DHX34	19	47870358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4465	47870358	11258625	19448	29765											
SLC8A2	6543	broad.mit.edu	37	chr19	47969093	47969093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcaggtgcttgatcttgcGgctctcgccggctgggatga	14	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47969093G>A	ENST00000236877.6	-	2	963	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	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	190					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)		TTGATCTTGCGGCTCTCGCCG	0.572																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(568-570)Cgc>Tgc		solute carrier family 8 (sodium/calcium exchanger), member 2							66	47	53					19																	47969093		2203	4300	6503	SO:0001583	missense	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47969093G>A	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.568C>T	19.37:g.47969093G>A	ENSP00000236877:p.Arg190Cys					SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	p.R190C	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	2	963	-		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)	190					B4DYQ9	Missense_Mutation	SNP	ENST00000236877.6	37	c.568C>T	CCDS33065.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280534	0.80692	.	.	ENSG00000118160	ENST00000391903;ENST00000236877	T	0.66460	-0.21	4.04	4.04	0.47022	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	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	0.89913	0.4053	10	0.87932	D	0	.	15.1426	0.72623	0.0:0.0:1.0:0.0	.	18;190	E9PGS7;Q9UPR5	.;NAC2_HUMAN	C	18;190	ENSP00000236877:R190C	ENSP00000236877:R190C	R	-	1	0	SLC8A2	52660905	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.695000	0.47043	2.098000	0.63641	0.462000	0.41574	CGC		0.572	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			32	167	0	0	0	1	0	32	167					A	47969093	G	A	47969093	3	1	79	1	0	0	0	0	1	0	0	0	14757	1116	39	1	2233	1	SLC8A2	19	47969093	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98735	47969093	11159890	19449	29766											
KPTN	11133	broad.mit.edu	37	chr19	47979831	47979831	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggagaccacggcaagctcCtgcagcccatccccggtcag	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47979831C>T	ENST00000338134.3	-	11	1247	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KPTN_ENST00000536339.1_Silent_p.Q140Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	380					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)		CGGCAAGCTCCTGCAGCCCAT	0.652																																						ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(1138-1140)caG>caA		kaptin (actin binding protein)							24	27	26					19																	47979831		2056	4190	6246	SO:0001819	synonymous_variant	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47979831C>T	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.1140G>A	19.37:g.47979831C>T						KPTN_ENST00000536339.1_Silent_p.Q140Q	p.Q380Q	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	11	1247	-		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)	380					B3KN86|B4DQ76|Q96GT1	Silent	SNP	ENST00000338134.3	37	c.1140G>A	CCDS42583.1																																																																																				0.652	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			40	156	0	0	0	1	0	40	156					T	47979831	C	T	47979831	2	4	79	1	0	0	0	0	0	0	0	1	8467	680	24	2		2	KPTN	19	47979831	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10738	47979831	11149152	19450	29767											
NAPA	8775	broad.mit.edu	37	chr19	47996703	47996703	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tccaccaactctgtctcataGatctcagcaatggagatgtg	8	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47996703G>T	ENST00000263354.3	-	5	689	c.390C>A	c.(388-390)atC>atA	p.I130I	NAPA-AS1_ENST00000594367.1_RNA|NAPA-AS1_ENST00000593284.1_RNA|NAPA_ENST00000595227.1_Silent_p.I91I|NAPA_ENST00000593785.1_5'Flank	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	130					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.I130I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTGTCTCATAGATCTCAGCAA	0.607																																					Ovarian(185;1135 2042 27703 31345 42493)	ENST00000263354.3																			1	Substitution - coding silent(1)	p.I130I(1)	large_intestine(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11						c.(388-390)atC>atA		N-ethylmaleimide-sensitive factor attachment protein, alpha							252	217	229					19																	47996703		2203	4300	6503	SO:0001819	synonymous_variant	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:47996703G>T	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"alpha SNAP"	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.390C>A	19.37:g.47996703G>T						NAPA_ENST00000595227.1_Silent_p.I91I|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	p.I130I	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	5	689	-		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)	130					A8K879|Q96IK3|Q9BVJ3	Silent	SNP	ENST00000263354.3	37	c.390C>A	CCDS12702.1																																																																																				0.607	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		233	1053	1	0	1.0846e-72	1	1.3799e-72	233	1053					T	47996703	G	T	47996703	2	4	79	1	0	0	0	0	0	0	0	1	10202	932	33	3		3	NAPA	19	47996703	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16872	47996703	11132280	19451	29768											
GLTSCR1	29998	broad.mit.edu	37	chr19	48183836	48183836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgctgccgggccagaAccagttcctactgcctggcg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48183836A>G	ENST00000396720.3	+	6	1603	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	470										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)		CCGGGCCAGAACCAGTTCCTA	0.721																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(1408-1410)aAc>aGc		glioma tumor suppressor candidate region gene 1							17	22	20					19																	48183836		2058	4184	6242	SO:0001583	missense	29998						protein binding	g.chr19:48183836A>G	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.1409A>G	19.37:g.48183836A>G	ENSP00000379946:p.Asn470Ser					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.N470S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	6	1603	+		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)	470					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.1409A>G	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	a	9.517	1.107398	0.20714	.	.	ENSG00000063169	ENST00000396720	T	0.56103	0.48	4.6	1.12	0.20585	.	.	.	.	.	T	0.37404	0.1002	L	0.42245	1.32	0.30381	N	0.781977	B	0.18310	0.027	B	0.16289	0.015	T	0.29971	-0.9994	9	0.31617	T	0.26	.	2.8672	0.05605	0.6258:0.1483:0.0831:0.1428	.	470	Q9NZM4	GSCR1_HUMAN	S	470	ENSP00000379946:N470S	ENSP00000379946:N470S	N	+	2	0	GLTSCR1	52875648	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.857000	0.62939	0.160000	0.19432	-0.494000	0.04653	AAC		0.721	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		19	91	0	0	0	1	0	19	91					G	48183836	A	G	48183836	3	3	79	1	0	0	0	0	1	0	0	0	6503	43	2	4	1423	4	GLTSCR1	19	48183836	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	187133	48183836	10945147	19452	29769											
GLTSCR1	29998	broad.mit.edu	37	chr19	48197882	48197882	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccacctggtccctgagCcggcagcaccccccccaccg	8	24	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48197882C>T	ENST00000396720.3	+	8	2988	c.2794C>T	c.(2794-2796)Ccg>Tcg	p.P932S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	932										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)		GGTCCCTGAGCCGGCAGCACC	0.682																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2794-2796)Ccg>Tcg		glioma tumor suppressor candidate region gene 1							17	19	18					19																	48197882		1843	4078	5921	SO:0001583	missense	29998						protein binding	g.chr19:48197882C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2794C>T	19.37:g.48197882C>T	ENSP00000379946:p.Pro932Ser					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.P932S	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2988	+		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)	932					A8MW01	Missense_Mutation	SNP	ENST00000396720.3	37	c.2794C>T	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	C	7.119	0.577510	0.13686	.	.	ENSG00000063169	ENST00000396720	T	0.29655	1.56	2.67	2.67	0.31697	.	.	.	.	.	T	0.22126	0.0533	N	0.24115	0.695	0.27966	N	0.93657	D	0.55172	0.97	P	0.45506	0.483	T	0.04693	-1.0933	9	0.19147	T	0.46	.	10.9231	0.47176	0.0:1.0:0.0:0.0	.	932	Q9NZM4	GSCR1_HUMAN	S	932	ENSP00000379946:P932S	ENSP00000379946:P932S	P	+	1	0	GLTSCR1	52889694	0.747000	0.28283	0.604000	0.28916	0.012000	0.07955	0.000000	0.12993	1.436000	0.47453	0.289000	0.19496	CCG		0.682	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		41	161	0	0	0	1	0	41	161					T	48197882	C	T	48197882	3	4	79	1	0	0	0	0	1	0	0	0	6503	739	26	2	2816	2	GLTSCR1	19	48197882	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14046	48197882	10931101	19453	29770											
EHD2	30846	broad.mit.edu	37	chr19	48244498	48244498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggatggtggggaccaagCtccccaactcagtgctgggg	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48244498C>T	ENST00000263277.3	+	6	1692	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	EHD2_ENST00000538399.1_Missense_Mutation_p.L345F|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	481	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				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)		GGGGACCAAGCTCCCCAACTC	0.612																																						ENST00000263277.3																			0				endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19						c.(1441-1443)Ctc>Ttc		EH-domain containing 2							67	53	58					19																	48244498		2203	4300	6503	SO:0001583	missense	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244498C>T	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.1441C>T	19.37:g.48244498C>T	ENSP00000263277:p.Leu481Phe					EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.L345F	p.L481F	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1692	+		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)	481			EF-hand.|EH.		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	ENST00000263277.3	37	c.1441C>T	CCDS12704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.966356|3.966356	0.74131|0.74131	.|.	.|.	ENSG00000024422|ENSG00000024422	ENST00000454483|ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	.|T;T	.|0.49720	.|0.77;0.77	4.03|4.03	4.03|4.03	0.46877|0.46877	.|EPS15 homology (EH) (2);EF-hand-like domain (1);	.|0.000000	.|0.64402	.|D	.|0.000010	T|T	0.81616|0.81616	0.4860|0.4860	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.89471|0.89471	0.3743|0.3743	6|10	0.31617|0.87932	T|D	0.26|0	-27.2593|-27.2593	14.0469|14.0469	0.64710|0.64710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|481	.|Q9NZN4	.|EHD2_HUMAN	V|F	150|481;471;345;164	.|ENSP00000263277:L481F;ENSP00000439036:L345F	ENSP00000391634:A150V|ENSP00000263277:L481F	A|L	+|+	2|1	0|0	EHD2|EHD2	52936310|52936310	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.707000|0.707000	0.40811|0.40811	5.919000|5.919000	0.70005|0.70005	1.966000|1.966000	0.57179|0.57179	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.612	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1			16	279	0	0	0	1	0	16	279					T	48244498	C	T	48244498	3	4	79	1	0	0	0	0	1	0	0	0	4994	797	28	2	1459	2	EHD2	19	48244498	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46616	48244498	10884485	19454	29771											
GLTSCR2	29997	broad.mit.edu	37	chr19	48254262	48254262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagctgccccgggaggtgCgcagggcccaggcccggctc	18	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48254262C>T	ENST00000246802.5	+	4	534	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	166				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGGGAGGTGCGCAGGGCCCA	0.687																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(496-498)Cgc>Tgc		glioma tumor suppressor candidate region gene 2							15	15	15					19																	48254262		2193	4292	6485	SO:0001583	missense	29997					nucleolus		g.chr19:48254262C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.496C>T	19.37:g.48254262C>T	ENSP00000246802:p.Arg166Cys					GLTSCR2_ENST00000598681.1_3'UTR	p.R166C	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	4	534	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	166	RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.496C>T	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449166	0.63178	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.46819	0.86	3.86	3.86	0.44501	.	0.160449	0.41938	D	0.000785	T	0.63827	0.2544	M	0.68317	2.08	0.51012	D	0.999903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.991;0.995	T	0.67201	-0.5730	10	0.72032	D	0.01	-14.0727	11.4519	0.50158	0.0:1.0:0.0:0.0	.	166;166;164	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	C	166	ENSP00000246802:R166C	ENSP00000246802:R166C	R	+	1	0	GLTSCR2	52946074	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	3.773000	0.55333	2.138000	0.66242	0.407000	0.27541	CGC		0.687	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		7	44	0	0	0	1	0	7	44					T	48254262	C	T	48254262	3	4	79	1	0	0	0	0	1	0	0	0	6504	768	27	1	510	1	GLTSCR2	19	48254262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9764	48254262	10874721	19455	29772											
GLTSCR2	29997	broad.mit.edu	37	chr19	48255775	48255775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttctccacagcggccaGcacgcctgcacaccaagccg	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255775G>A	ENST00000246802.5	+	6	714	c.676G>A	c.(676-678)Gca>Aca	p.A226T	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	226						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAGCGGCCAGCACGCCTGCA	0.662																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(676-678)Gca>Aca		glioma tumor suppressor candidate region gene 2							54	48	50					19																	48255775		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48255775G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.676G>A	19.37:g.48255775G>A	ENSP00000246802:p.Ala226Thr					GLTSCR2_ENST00000598681.1_3'UTR	p.A226T	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	6	714	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	226					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.676G>A	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	g	7.465	0.645474	0.14451	.	.	ENSG00000105373	ENST00000246802;ENST00000325566	T	0.43688	0.94	4.08	1.93	0.25924	.	1.116760	0.06648	N	0.762308	T	0.23688	0.0573	N	0.12182	0.205	0.09310	N	1	B;B;B	0.19331	0.035;0.028;0.035	B;B;B	0.24394	0.033;0.024;0.053	T	0.30208	-0.9986	10	0.14656	T	0.56	-1.9066	5.7496	0.18140	0.0:0.6922:0.199:0.1088	.	226;226;224	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	T	226	ENSP00000246802:A226T	ENSP00000246802:A226T	A	+	1	0	GLTSCR2	52947587	0.000000	0.05858	0.006000	0.13384	0.108000	0.19459	0.736000	0.26130	0.500000	0.27991	-0.387000	0.06579	GCA		0.662	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		64	295	0	0	0	1	0	64	295					A	48255775	G	A	48255775	3	1	79	1	0	0	0	0	1	0	0	0	6504	971	34	2	698	2	GLTSCR2	19	48255775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1513	48255775	10873208	19456	29773											
GLTSCR2	29997	broad.mit.edu	37	chr19	48255822	48255822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacccgccgtggaggtggcGcctgccggagcttcctacaa	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255822G>A	ENST00000246802.5	+	6	761	c.723G>A	c.(721-723)gcG>gcA	p.A241A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	241						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TGGAGGTGGCGCCTGCCGGAG	0.662																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(721-723)gcG>gcA		glioma tumor suppressor candidate region gene 2							76	67	70					19																	48255822		2203	4300	6503	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48255822G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.723G>A	19.37:g.48255822G>A						GLTSCR2_ENST00000598681.1_3'UTR	p.A241A	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	6	761	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	241					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.723G>A	CCDS12705.1																																																																																				0.662	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		61	287	0	0	0	1	0	61	287					A	48255822	G	A	48255822	2	1	79	1	0	0	0	0	0	0	0	1	6504	1074	38	1		1	GLTSCR2	19	48255822	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47	48255822	10873161	19457	29774											
GLTSCR2	29997	broad.mit.edu	37	chr19	48258122	48258122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagacggagcagcagcggCggcgggagaaggctgtgcac	19	9	0	3	rs536507041		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48258122C>T	ENST00000246802.5	+	8	1065	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	343						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GCAGCAGCGGCGGCGGGAGAA	0.726													C|||	1	0.000199681	0.0	0.0	5008	,	,		11236	0.0		0.0	False		,,,				2504	0.001				Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1027-1029)Cgg>Tgg		glioma tumor suppressor candidate region gene 2							5	9	8					19																	48258122		2077	4130	6207	SO:0001583	missense	29997					nucleolus		g.chr19:48258122C>T	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1027C>T	19.37:g.48258122C>T	ENSP00000246802:p.Arg343Trp					GLTSCR2_ENST00000598681.1_3'UTR	p.R343W	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	8	1065	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	343					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.1027C>T	CCDS12705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.24|14.24	2.477870|2.477870	0.44044|0.44044	.|.	.|.	ENSG00000105373|ENSG00000105373	ENST00000325566|ENST00000246802	.|T	.|0.50001	.|0.76	3.84|3.84	2.7|2.7	0.31948|0.31948	.|.	.|0.126503	.|0.50627	.|D	.|0.000111	T|T	0.62295|0.62295	0.2416|0.2416	M|M	0.80422|0.80422	2.495|2.495	0.42653|0.42653	D|D	0.993456|0.993456	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;P;P	.|0.63033	.|0.91;0.88;0.828	T|T	0.65726|0.65726	-0.6098|-0.6098	6|10	0.54805|0.59425	T|D	0.06|0.04	-20.7609|-20.7609	8.0244|8.0244	0.30427|0.30427	0.2428:0.7572:0.0:0.0|0.2428:0.7572:0.0:0.0	.|.	.|343;343;341	.|Q53YP0;Q9NZM5;Q96CS0	.|.;GSCR2_HUMAN;.	V|W	341|343	.|ENSP00000246802:R343W	ENSP00000324079:A341V|ENSP00000246802:R343W	A|R	+|+	2|1	0|2	GLTSCR2|GLTSCR2	52949934|52949934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.081000|0.081000	0.17604|0.17604	2.674000|2.674000	0.46867|0.46867	2.123000|2.123000	0.65237|0.65237	0.411000|0.411000	0.27672|0.27672	GCG|CGG		0.726	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		5	34	0	0	0	1	0	5	34					T	48258122	C	T	48258122	3	4	79	1	0	0	0	0	1	0	0	0	6504	759	27	1	1057	1	GLTSCR2	19	48258122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2300	48258122	10870861	19458	29775											
CRX	1406	broad.mit.edu	37	chr19	48342621	48342621	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcaggcagcagcgacaGcagcagaaacagcagcagca	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342621G>T	ENST00000221996.7	+	4	503	c.297G>T	c.(295-297)caG>caT	p.Q99H	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.Q99H	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	99					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		agcagcgacagcagcagaaac	0.642																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(295-297)caG>caT		cone-rod homeobox							54	63	60					19																	48342621		2202	4300	6502	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342621G>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.297G>T	19.37:g.48342621G>T	ENSP00000221996:p.Gln99His					CRX_ENST00000539067.1_Missense_Mutation_p.Q99H|TPRX2P_ENST00000535362.1_Intron	p.Q99H	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	503	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	99					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.297G>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564636	0.45694	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.91124	-2.79;-2.79	3.86	2.8	0.32819	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	N	0.24115	0.695	0.58432	D	0.999991	D	0.61080	0.989	P	0.59115	0.852	D	0.86203	0.1620	10	0.56958	D	0.05	-8.5147	7.3399	0.26632	0.148:0.0:0.852:0.0	.	99	O43186	CRX_HUMAN	H	99	ENSP00000221996:Q99H;ENSP00000445565:Q99H	ENSP00000221996:Q99H	Q	+	3	2	CRX	53034433	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.806000	0.47947	0.739000	0.32628	0.460000	0.39030	CAG		0.642	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		195	750	1	0	2.55618e-100	1	3.28786e-100	195	750					T	48342621	G	T	48342621	3	4	79	1	0	0	0	0	1	0	0	0	3911	962	34	3	307	3	CRX	19	48342621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84499	48342621	10786362	19459	29776											
CRX	1406	broad.mit.edu	37	chr19	48342916	48342916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccatgacctacgccccgGcctccgctttctgctcttcc	7	19	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342916G>A	ENST00000221996.7	+	4	798	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.A198T	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	198					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CTACGCCCCGGCCTCCGCTTT	0.672																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(592-594)Gcc>Acc		cone-rod homeobox							61	64	63					19																	48342916		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48342916G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.592G>A	19.37:g.48342916G>A	ENSP00000221996:p.Ala198Thr					CRX_ENST00000539067.1_Missense_Mutation_p.A198T|TPRX2P_ENST00000535362.1_Intron	p.A198T	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	798	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	198					Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.592G>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481258	0.26598	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.87103	-2.21;-2.21	4.46	3.41	0.39046	Transcription factor Otx, C-terminal (1);	0.000000	0.64402	D	0.000004	D	0.83889	0.5352	L	0.27053	0.805	0.37373	D	0.911731	D	0.56287	0.975	P	0.54372	0.75	T	0.82238	-0.0556	10	0.27785	T	0.31	-11.2854	10.3854	0.44136	0.0984:0.0:0.9016:0.0	.	198	O43186	CRX_HUMAN	T	198	ENSP00000221996:A198T;ENSP00000445565:A198T	ENSP00000221996:A198T	A	+	1	0	CRX	53034728	0.998000	0.40836	0.042000	0.18584	0.312000	0.27988	3.493000	0.53266	0.860000	0.35481	0.467000	0.42956	GCC		0.672	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		160	579	0	0	0	1	0	160	579					A	48342916	G	A	48342916	3	1	79	1	0	0	0	0	1	0	0	0	3911	1203	42	2	602	2	CRX	19	48342916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	295	48342916	10786067	19460	29777											
CRX	1406	broad.mit.edu	37	chr19	48343134	48343134	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggatagcttggaattcaaGgaccccacgggcacctggaa	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48343134G>A	ENST00000221996.7	+	4	1016	c.810G>A	c.(808-810)aaG>aaA	p.K270K	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.K270K	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	270					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGAATTCAAGGACCCCACGG	0.582																																					Pancreas(57;461 1196 22201 40716 47188)	ENST00000221996.7																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23						c.(808-810)aaG>aaA		cone-rod homeobox							93	98	96					19																	48343134		2203	4297	6500	SO:0001819	synonymous_variant	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48343134G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.810G>A	19.37:g.48343134G>A						CRX_ENST00000539067.1_Silent_p.K270K|TPRX2P_ENST00000535362.1_Intron	p.K270K	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	4	1016	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	270					Q0QD45	Silent	SNP	ENST00000221996.7	37	c.810G>A	CCDS12706.1																																																																																				0.582	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		154	784	0	0	0	1	0	154	784					A	48343134	G	A	48343134	2	1	79	1	0	0	0	0	0	0	0	1	3911	991	35	2		2	CRX	19	48343134	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	218	48343134	10785849	19461	29778											
SULT2A1	6822	broad.mit.edu	37	chr19	48382317	48382317	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctcctcataactcagTaacaggaagtttttctcctc	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48382317T>C	ENST00000222002.3	-	4	682	c.543A>G	c.(541-543)ttA>ttG	p.L181L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	181					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)	CATAACTCAGTAACAGGAAGT	0.463																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(541-543)ttA>ttG		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							201	197	198					19																	48382317		2203	4300	6503	SO:0001819	synonymous_variant	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48382317T>C	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.543A>G	19.37:g.48382317T>C							p.L181L	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	4	682	-		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)	181						Silent	SNP	ENST00000222002.3	37	c.543A>G	CCDS12707.1																																																																																				0.463	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		148	669	0	0	0	1	0	148	669					C	48382317	T	C	48382317	2	2	79	1	0	0	0	0	0	0	0	1	15433	1635	57	4		4	SULT2A1	19	48382317	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	39183	48382317	10746666	19462	29779											
SULT2A1	6822	broad.mit.edu	37	chr19	48386976	48386976	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgctcccagatgggcacaGattggatccacttggcatcc	10	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48386976G>T	ENST00000222002.3	-	2	342	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	68					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)	GATGGGCACAGATTGGATCCA	0.483																																						ENST00000222002.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(202-204)tCt>tAt		sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1							88	77	81					19																	48386976		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48386976G>T	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.203C>A	19.37:g.48386976G>T	ENSP00000222002:p.Ser68Tyr						p.S68Y	NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	2	342	-		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)	68						Missense_Mutation	SNP	ENST00000222002.3	37	c.203C>A	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703981	0.30232	.	.	ENSG00000105398	ENST00000222002	D	0.83673	-1.75	3.39	3.39	0.38822	Sulfotransferase domain (1);	0.241943	0.28677	N	0.014505	D	0.92149	0.7511	M	0.92077	3.27	0.29164	N	0.877579	D	0.89917	1.0	D	0.76071	0.987	D	0.87559	0.2470	10	0.87932	D	0	.	12.6508	0.56759	0.0:0.0:1.0:0.0	.	68	Q06520	ST2A1_HUMAN	Y	68	ENSP00000222002:S68Y	ENSP00000222002:S68Y	S	-	2	0	SULT2A1	53078788	0.025000	0.19082	0.249000	0.24280	0.021000	0.10359	1.279000	0.33191	1.921000	0.55644	0.643000	0.83706	TCT		0.483	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		6	246	1	0	8.12818e-05	1	8.2724e-05	6	246					T	48386976	G	T	48386976	3	4	79	1	0	0	0	0	1	0	0	0	15433	942	33	3	674	3	SULT2A1	19	48386976	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4659	48386976	10742007	19463	29780											
ELSPBP1	64100	broad.mit.edu	37	chr19	48519159	48519159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcctaacagattacccacGctgtatcttccctttcatct	4	14	3	1	rs370140212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48519159G>A	ENST00000339841.2	+	4	396	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	73	Fibronectin type-II 2. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATTACCCACGCTGTATCTTC	0.463																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(217-219)cGc>cAc		epididymal sperm binding protein 1		A	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	108	85	93		218	2.3	0.8	19		93	0,8600		0,0,4300	no	missense	ELSPBP1	NM_022142.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	73/224	48519159	1,13005	2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48519159G>A	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.218G>A	19.37:g.48519159G>A	ENSP00000340660:p.Arg73His					ELSPBP1_ENST00000597519.1_Intron	p.R73H	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	4	396	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	73			Fibronectin type-II 2.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.218G>A	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	g	8.098	0.776018	0.16051	2.27E-4	0.0	ENSG00000169393	ENST00000339841	T	0.09817	2.94	3.4	2.35	0.29111	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.186449	0.24554	N	0.037536	T	0.09555	0.0235	M	0.62016	1.91	0.19945	N	0.999947	P	0.44521	0.837	B	0.38106	0.265	T	0.22312	-1.0220	10	0.15952	T	0.53	.	7.4446	0.27203	0.1314:0.0:0.8686:0.0	.	73	Q96BH3	ESPB1_HUMAN	H	73	ENSP00000340660:R73H	ENSP00000340660:R73H	R	+	2	0	ELSPBP1	53210971	0.746000	0.28272	0.802000	0.32245	0.261000	0.26267	0.922000	0.28734	0.710000	0.31997	-0.246000	0.11932	CGC		0.463	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			54	160	0	0	0	1	0	54	160					A	48519159	G	A	48519159	3	1	79	1	0	0	0	0	1	0	0	0	5101	1087	38	1	228	1	ELSPBP1	19	48519159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	132183	48519159	10609824	19464	29781											
ELSPBP1	64100	broad.mit.edu	37	chr19	48523002	48523002	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaattctctcaggaagCcctgcatcttcccctccatc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48523002C>A	ENST00000339841.2	+	5	560	c.382C>A	c.(382-384)Ccc>Acc	p.P128T	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	128	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TCTCAGGAAGCCCTGCATCTT	0.443																																						ENST00000339841.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(382-384)Ccc>Acc		epididymal sperm binding protein 1							89	83	85					19																	48523002		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48523002C>A	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"epididymal protein 12"	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.382C>A	19.37:g.48523002C>A	ENSP00000340660:p.Pro128Thr					ELSPBP1_ENST00000597519.1_Intron	p.P128T	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	5	560	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	128			Fibronectin type-II 3.		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.382C>A	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535607	0.27475	.	.	ENSG00000169393	ENST00000339841	T	0.09911	2.93	3.76	2.71	0.32032	Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.128105	0.35320	N	0.003283	T	0.13756	0.0333	M	0.87758	2.905	0.26877	N	0.967623	P	0.39551	0.678	B	0.30572	0.117	T	0.20140	-1.0284	10	0.62326	D	0.03	.	7.6932	0.28579	0.0:0.8752:0.0:0.1248	.	128	Q96BH3	ESPB1_HUMAN	T	128	ENSP00000340660:P128T	ENSP00000340660:P128T	P	+	1	0	ELSPBP1	53214814	0.996000	0.38824	0.998000	0.56505	0.504000	0.33889	0.777000	0.26718	0.870000	0.35726	0.561000	0.74099	CCC		0.443	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			17	296	1	0	0.00074312	1	0.000751657	17	296					A	48523002	C	A	48523002	3	1	79	1	0	0	0	0	1	0	0	0	5101	739	26	3	396	3	ELSPBP1	19	48523002	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3843	48523002	10605981	19465	29782											
PLA2G4C	8605	broad.mit.edu	37	chr19	48598787	48598787	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcttgaatttgcttcCgaagtgggttatggaaacaa	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48598787C>T	ENST00000599921.1	-	7	1000	c.643G>A	c.(643-645)Gga>Aga	p.G215R	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.G215R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	215	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|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)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATTTGCTTCCGAAGTGGGTT	0.542																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(643-645)Gga>Aga		phospholipase A2, group IVC (cytosolic, calcium-independent)							122	139	134					19																	48598787		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48598787C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.643G>A	19.37:g.48598787C>T	ENSP00000469473:p.Gly215Arg					PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G215R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G225R|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G215R	p.G215R	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	7	970	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	215			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.643G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401579	0.83120	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.48201	0.82;0.82	3.31	3.31	0.37934	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.64402	U	0.000002	T	0.70954	0.3283	M	0.90082	3.085	0.34797	D	0.736353	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81885	-0.0727	10	0.87932	D	0	-13.7198	10.4531	0.44535	0.0:1.0:0.0:0.0	.	225;215	B4DI40;Q9UP65	.;PA24C_HUMAN	R	215	ENSP00000346228:G215R;ENSP00000400036:G215R	ENSP00000346228:G215R	G	-	1	0	PLA2G4C	53290599	1.000000	0.71417	0.678000	0.29963	0.839000	0.47603	3.119000	0.50422	1.553000	0.49476	0.205000	0.17691	GGA		0.542	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			203	841	0	0	0	1	0	203	841					T	48598787	C	T	48598787	3	4	79	1	0	0	0	0	1	0	0	0	12045	661	23	1	1030	1	PLA2G4C	19	48598787	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75785	48598787	10530196	19466	29783											
CARD8	22900	broad.mit.edu	37	chr19	48725090	48725090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgcacaccatggaagCgatcttcctcatcatctatc	8	14	4	0	rs540915752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48725090C>T	ENST00000359009.4	-	7	1052	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000391898.3_Missense_Mutation_p.R353H|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	247					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)		ACCATGGAAGCGATCTTCCTC	0.428																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(1057-1059)cGc>cAc		caspase recruitment domain family, member 8							67	63	64					19																	48725090		2203	4300	6503	SO:0001583	missense	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48725090C>T	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.740G>A	19.37:g.48725090C>T	ENSP00000351901:p.Arg247His					CARD8_ENST00000447740.2_Missense_Mutation_p.R303H|CARD8_ENST00000521613.1_Missense_Mutation_p.R303H|CARD8_ENST00000519940.1_Missense_Mutation_p.R353H|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Missense_Mutation_p.R353H|CARD8_ENST00000359009.4_Missense_Mutation_p.R247H|CARD8_ENST00000520753.1_Missense_Mutation_p.R353H|CARD8_ENST00000357778.5_Missense_Mutation_p.R78H|CARD8_ENST00000520153.1_Missense_Mutation_p.R303H	p.R353H	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	8	1100	-		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)	247			CARD.		B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37	c.1058G>A		.	.	.	.	.	.	.	.	.	.	C	13.46	2.243606	0.39697	.	.	ENSG00000105483	ENST00000357778;ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	2.3	-4.61	0.03380	.	.	.	.	.	T	0.25865	0.0630	L	0.36672	1.1	0.09310	N	1	D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.999;0.998;0.998;0.998	P;D;D;P;P;P;P	0.64144	0.864;0.922;0.922;0.872;0.786;0.786;0.783	T	0.15752	-1.0426	9	0.66056	D	0.02	.	5.7338	0.18055	0.0:0.2121:0.1655:0.6223	.	272;353;353;353;303;247;247	B5KVR7;E9PEM7;B5KVR6;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;CARD8_HUMAN	H	78;303;353;247;353;303;353;303;353	ENSP00000350423:R78H;ENSP00000391248:R303H;ENSP00000375767:R353H;ENSP00000351901:R247H;ENSP00000429839:R353H;ENSP00000428736:R303H;ENSP00000430747:R353H;ENSP00000427858:R303H;ENSP00000428883:R353H	ENSP00000350423:R78H	R	-	2	0	CARD8	53416902	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.582000	0.05814	-1.532000	0.01747	-0.218000	0.12543	CGC		0.428	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		12	247	0	0	0	1	0	12	247					T	48725090	C	T	48725090	3	4	79	1	0	0	0	0	1	0	0	0	2658	768	27	1	571	1	CARD8	19	48725090	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126303	48725090	10403893	19467	29784											
ZNF114	163071	broad.mit.edu	37	chr19	48785680	48785680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccaaagaggagtggaCcctgctggacccagctcaga	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48785680C>T	ENST00000595607.1	+	5	556	c.62C>T	c.(61-63)aCc>aTc	p.T21I	ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I|ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I			Q8NC26	ZN114_HUMAN	zinc finger protein 114	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GAGGAGTGGACCCTGCTGGAC	0.512																																						ENST00000595607.1																			0				endometrium(1)|large_intestine(6)|lung(11)	18						c.(61-63)aCc>aTc		zinc finger protein 114							138	138	138					19																	48785680		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48785680C>T	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.62C>T	19.37:g.48785680C>T	ENSP00000469998:p.Thr21Ile					ZNF114_ENST00000600687.1_Missense_Mutation_p.T21I|ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000315849.1_Missense_Mutation_p.T21I	p.T21I			Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	5	556	+		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)	21			KRAB.		A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.62C>T	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	C	8.235	0.805445	0.16467	.	.	ENSG00000178150	ENST00000315849	T	0.01787	4.64	2.26	1.16	0.20824	Krueppel-associated box (4);	.	.	.	.	T	0.03608	0.0103	L	0.41961	1.31	0.09310	N	1	D	0.59357	0.985	P	0.55749	0.783	T	0.47394	-0.9121	9	0.39692	T	0.17	.	6.6534	0.22975	0.5111:0.4889:0.0:0.0	.	21	Q8NC26	ZN114_HUMAN	I	21	ENSP00000318898:T21I	ENSP00000318898:T21I	T	+	2	0	ZNF114	53477492	0.001000	0.12720	0.107000	0.21349	0.464000	0.32679	0.005000	0.13129	0.495000	0.27882	0.205000	0.17691	ACC		0.512	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		133	653	0	0	0	1	0	133	653					T	48785680	C	T	48785680	3	4	79	1	0	0	0	0	1	0	0	0	17769	507	18	2	68	2	ZNF114	19	48785680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60590	48785680	10343303	19468	29785											
CCDC114	93233	broad.mit.edu	37	chr19	48800327	48800327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctctgctggacccgaggcctCcgctcgaatcagacgctgtg	12	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800327C>T	ENST00000315396.7	-	14	2601	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	640	Ser-rich.				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)		CCCGAGGCCTCCGCTCGAATC	0.662																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1918-1920)gGa>gAa		coiled-coil domain containing 114							65	64	64					19																	48800327		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800327C>T	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.1919G>A	19.37:g.48800327C>T	ENSP00000318429:p.Gly640Glu						p.G640E	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2601	-		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)	640			Ser-rich.		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1919G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969332	0.53614	.	.	ENSG00000105479	ENST00000315396	T	0.26518	1.73	3.6	2.56	0.30785	.	.	.	.	.	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999999	D	0.63046	0.992	P	0.51806	0.68	T	0.06972	-1.0797	9	0.56958	D	0.05	-3.013	5.9822	0.19413	0.0:0.8585:0.0:0.1415	.	640	Q96M63	CC114_HUMAN	E	640	ENSP00000318429:G640E	ENSP00000318429:G640E	G	-	2	0	CCDC114	53492139	0.584000	0.26766	0.115000	0.21578	0.012000	0.07955	0.856000	0.27818	1.931000	0.55961	0.655000	0.94253	GGA		0.662	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		81	410	0	0	0	1	0	81	410					T	48800327	C	T	48800327	3	4	79	1	0	0	0	0	1	0	0	0	2758	855	30	2	97	2	CCDC114	19	48800327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14647	48800327	10328656	19469	29786											
CCDC114	93233	broad.mit.edu	37	chr19	48800516	48800516	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgttggggtcaccgtgcGtgatgtggctgggcaaatgc	17	8	1	1	rs372889077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800516G>A	ENST00000315396.7	-	14	2412	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	577					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.T577M(1)|p.T370M(1)		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)		GTCACCGTGCGTGATGTGGCT	0.622																																						ENST00000315396.7																			2	Substitution - Missense(2)	p.T577M(1)|p.T370M(1)	cervix(2)	cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1729-1731)aCg>aTg		coiled-coil domain containing 114							55	51	53					19																	48800516		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48800516G>A	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.1730C>T	19.37:g.48800516G>A	ENSP00000318429:p.Thr577Met						p.T577M	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2412	-		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)	577					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1730C>T	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	G	8.611	0.889042	0.17540	.	.	ENSG00000105479	ENST00000315396	T	0.32988	1.43	2.2	1.01	0.19927	.	.	.	.	.	T	0.17152	0.0412	L	0.29908	0.895	0.09310	N	1	B	0.34290	0.447	B	0.17433	0.018	T	0.12760	-1.0535	9	0.87932	D	0	-4.7199	6.1144	0.20117	0.0:0.0:0.6969:0.303	.	577	Q96M63	CC114_HUMAN	M	577	ENSP00000318429:T577M	ENSP00000318429:T577M	T	-	2	0	CCDC114	53492328	0.003000	0.15002	0.002000	0.10522	0.003000	0.03518	0.881000	0.28173	0.152000	0.19188	0.561000	0.74099	ACG		0.622	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		63	274	0	0	0	1	0	63	274					A	48800516	G	A	48800516	3	1	79	1	0	0	0	0	1	0	0	0	2758	1145	40	1	286	1	CCDC114	19	48800516	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	48800516	10328467	19470	29787											
CCDC114	93233	broad.mit.edu	37	chr19	48806314	48806314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctccagctccaagttctgctCgttgatgaagttgaactcag	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806314C>T	ENST00000315396.7	-	9	1598	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	306					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)		AAGTTCTGCTCGTTGATGAAG	0.592																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(916-918)Gag>Aag		coiled-coil domain containing 114							129	113	118					19																	48806314		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806314C>T	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.916G>A	19.37:g.48806314C>T	ENSP00000318429:p.Glu306Lys						p.E306K	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	9	1598	-		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)	306					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.916G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268026	0.59540	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.87	3.87	0.44632	.	.	.	.	.	T	0.59473	0.2196	M	0.81497	2.545	0.43399	D	0.995523	D;D;D	0.76494	0.999;0.991;0.991	D;B;P	0.76071	0.987;0.41;0.61	T	0.65092	-0.6252	9	0.72032	D	0.01	-17.7125	11.7482	0.51832	0.0:1.0:0.0:0.0	.	99;306;306	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	306	ENSP00000318429:E306K	ENSP00000318429:E306K	E	-	1	0	CCDC114	53498126	0.978000	0.34361	0.970000	0.41538	0.656000	0.38851	2.611000	0.46334	1.912000	0.55364	0.536000	0.68110	GAG		0.592	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		60	327	0	0	0	1	0	60	327					T	48806314	C	T	48806314	3	4	79	1	0	0	0	0	1	0	0	0	2758	893	31	1	1120	1	CCDC114	19	48806314	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5798	48806314	10322669	19471	29788											
CCDC114	93233	broad.mit.edu	37	chr19	48806982	48806982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtttattcagggcgtcctCgtagcaaagcaccagcctct	9	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806982C>T	ENST00000315396.7	-	8	1484	c.802G>A	c.(802-804)Gag>Aag	p.E268K		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	268					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)		AGGGCGTCCTCGTAGCAAAGC	0.632																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(802-804)Gag>Aag		coiled-coil domain containing 114							89	87	88					19																	48806982		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806982C>T	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.802G>A	19.37:g.48806982C>T	ENSP00000318429:p.Glu268Lys						p.E268K	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	8	1484	-		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)	268					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.802G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323115	0.41096	.	.	ENSG00000105479	ENST00000315396	T	0.35789	1.29	3.02	1.94	0.25998	.	.	.	.	.	T	0.44623	0.1302	M	0.66378	2.025	0.34629	D	0.719466	D;D;D	0.71674	0.998;0.987;0.995	P;P;P	0.54706	0.676;0.661;0.759	T	0.54788	-0.8241	9	0.34782	T	0.22	-17.9378	7.9692	0.30117	0.0:0.7455:0.2545:0.0	.	61;268;268	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	K	268	ENSP00000318429:E268K	ENSP00000318429:E268K	E	-	1	0	CCDC114	53498794	0.869000	0.29996	0.482000	0.27366	0.216000	0.24613	1.399000	0.34566	0.583000	0.29574	-0.182000	0.12963	GAG		0.632	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		121	472	0	0	0	1	0	121	472					T	48806982	C	T	48806982	3	4	79	1	0	0	0	0	1	0	0	0	2758	893	31	1	1238	1	CCDC114	19	48806982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668	48806982	10322001	19472	29789											
SYNGR4	23546	broad.mit.edu	37	chr19	48876806	48876806	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atcgtcttctcctccctgctGaccgacggctaccagaacaa	7	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48876806G>A	ENST00000344846.2	+	3	376	c.126G>A	c.(124-126)ctG>ctA	p.L42L	SYNGR4_ENST00000601610.1_5'UTR|SYNGR4_ENST00000595322.1_5'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	42	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				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)		CCTCCCTGCTGACCGACGGCT	0.597																																						ENST00000344846.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(124-126)ctG>ctA		synaptogyrin 4							109	99	103					19																	48876806		2203	4300	6503	SO:0001819	synonymous_variant	23546					integral to membrane		g.chr19:48876806G>A	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.126G>A	19.37:g.48876806G>A						SYNGR4_ENST00000595322.1_5'UTR|SYNGR4_ENST00000601610.1_5'UTR	p.L42L	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	3	376	+		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)	42			MARVEL.		Q3KP58	Silent	SNP	ENST00000344846.2	37	c.126G>A	CCDS12717.1																																																																																				0.597	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			89	378	0	0	0	1	0	89	378					A	48876806	G	A	48876806	2	1	79	1	0	0	0	0	0	0	0	1	15503	1277	45	2		2	SYNGR4	19	48876806	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69824	48876806	10252177	19473	29790											
SYNGR4	23546	broad.mit.edu	37	chr19	48879469	48879469	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccaacagccctgtgaAcatgcccaccactggcccca	7	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48879469A>G	ENST00000344846.2	+	5	849	c.599A>G	c.(598-600)aAc>aGc	p.N200S	SYNGR4_ENST00000601610.1_3'UTR|SYNGR4_ENST00000595322.1_3'UTR	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	200						integral component of membrane (GO:0016021)				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)		AGCCCTGTGAACATGCCCACC	0.607																																						ENST00000344846.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10						c.(598-600)aAc>aGc		synaptogyrin 4							158	120	133					19																	48879469		2203	4300	6503	SO:0001583	missense	23546					integral to membrane		g.chr19:48879469A>G	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.599A>G	19.37:g.48879469A>G	ENSP00000344041:p.Asn200Ser					SYNGR4_ENST00000595322.1_3'UTR|SYNGR4_ENST00000601610.1_3'UTR	p.N200S	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	5	849	+		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)	200					Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	c.599A>G	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	A	1.842	-0.467137	0.04476	.	.	ENSG00000105467	ENST00000344846	T	0.45276	0.9	5.51	-0.499	0.12015	.	1.158960	0.06182	N	0.679615	T	0.28466	0.0704	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.22661	-1.0210	10	0.17832	T	0.49	-32.1086	5.5627	0.17152	0.4274:0.2954:0.2771:0.0	.	200	O95473	SNG4_HUMAN	S	200	ENSP00000344041:N200S	ENSP00000344041:N200S	N	+	2	0	SYNGR4	53571281	0.039000	0.19947	0.002000	0.10522	0.031000	0.12232	0.555000	0.23422	-0.075000	0.12798	0.454000	0.30748	AAC		0.607	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1			8	456	0	0	0	1	0	8	456					G	48879469	A	G	48879469	3	3	79	1	0	0	0	0	1	0	0	0	15503	43	2	4	613	4	SYNGR4	19	48879469	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2663	48879469	10249514	19474	29791											
GRIN2D	2906	broad.mit.edu	37	chr19	48908453	48908453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtttgcagtgcgctcgGctggctggcgggatgacctg	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908453G>A	ENST00000263269.3	+	3	1016	c.928G>A	c.(928-930)Gct>Act	p.A310T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	310					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)	AGTGCGCTCGGCTGGCTGGCG	0.711																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(928-930)Gct>Act		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						10	13	12					19																	48908453		2153	4209	6362	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908453G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.928G>A	19.37:g.48908453G>A	ENSP00000263269:p.Ala310Thr						p.A310T	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1016	+		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)	310						Missense_Mutation	SNP	ENST00000263269.3	37	c.928G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231789	0.58777	.	.	ENSG00000105464	ENST00000263269	T	0.05382	3.45	4.45	4.45	0.53987	Extracellular ligand-binding receptor (1);	0.161142	0.40728	N	0.001033	T	0.11793	0.0287	N	0.22421	0.69	0.39742	D	0.971764	P	0.51791	0.948	P	0.57371	0.819	T	0.13202	-1.0518	10	0.56958	D	0.05	.	16.2466	0.82448	0.0:0.0:1.0:0.0	.	310	O15399	NMDE4_HUMAN	T	310	ENSP00000263269:A310T	ENSP00000263269:A310T	A	+	1	0	GRIN2D	53600265	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	7.893000	0.87330	2.199000	0.70637	0.561000	0.74099	GCT		0.711	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			4	84	0	0	0	1	0	4	84					A	48908453	G	A	48908453	3	1	79	1	0	0	0	0	1	0	0	0	6812	1203	42	2	934	2	GRIN2D	19	48908453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28984	48908453	10220530	19475	29792											
GRIN2D	2906	broad.mit.edu	37	chr19	48908591	48908591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcccagaaccgcacccacCgcggcgagagtctgcatagg	13	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908591C>T	ENST00000263269.3	+	3	1154	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	356					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)	CCGCACCCACCGCGGCGAGAG	0.622																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1066-1068)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						15	17	16					19																	48908591		2201	4294	6495	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908591C>T	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.1066C>T	19.37:g.48908591C>T	ENSP00000263269:p.Arg356Cys						p.R356C	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	1154	+		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)	356						Missense_Mutation	SNP	ENST00000263269.3	37	c.1066C>T	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134044	0.56828	.	.	ENSG00000105464	ENST00000263269	T	0.16073	2.37	4.32	4.32	0.51571	.	0.456329	0.18899	N	0.128097	T	0.17874	0.0429	L	0.44542	1.39	0.37251	D	0.906555	D	0.71674	0.998	P	0.48654	0.585	T	0.05468	-1.0883	10	0.56958	D	0.05	.	5.8638	0.18762	0.1928:0.7069:0.0:0.1002	.	356	O15399	NMDE4_HUMAN	C	356	ENSP00000263269:R356C	ENSP00000263269:R356C	R	+	1	0	GRIN2D	53600403	0.238000	0.23825	1.000000	0.80357	0.915000	0.54546	1.184000	0.32053	2.116000	0.64780	0.561000	0.74099	CGC		0.622	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			22	77	0	0	0	1	0	22	77					T	48908591	C	T	48908591	3	4	79	1	0	0	0	0	1	0	0	0	6812	652	23	1	1072	1	GRIN2D	19	48908591	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138	48908591	10220392	19476	29793											
GRIN2D	2906	broad.mit.edu	37	chr19	48922979	48922979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgggccttcttcgccGtcatcttcctcgccagctac	10	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48922979G>A	ENST00000263269.3	+	9	2087	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	667					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)	CTTCTTCGCCGTCATCTTCCT	0.592																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1999-2001)Gtc>Atc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						132	118	123					19																	48922979		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48922979G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1999G>A	19.37:g.48922979G>A	ENSP00000263269:p.Val667Ile						p.V667I	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	9	2087	+		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)	667						Missense_Mutation	SNP	ENST00000263269.3	37	c.1999G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139824	0.94560	.	.	ENSG00000105464	ENST00000263269	T	0.52057	0.68	4.57	4.57	0.56435	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.68659	0.3025	M	0.75615	2.305	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.73251	-0.4042	10	0.87932	D	0	.	16.6521	0.85219	0.0:0.0:1.0:0.0	.	667	O15399	NMDE4_HUMAN	I	667	ENSP00000263269:V667I	ENSP00000263269:V667I	V	+	1	0	GRIN2D	53614791	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	9.587000	0.98229	2.543000	0.85770	0.643000	0.83706	GTC		0.592	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			73	737	0	0	0	1	0	73	737					A	48922979	G	A	48922979	3	1	79	1	0	0	0	0	1	0	0	0	6812	1145	40	1	2029	1	GRIN2D	19	48922979	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14388	48922979	10206004	19477	29794											
GRIN2D	2906	broad.mit.edu	37	chr19	48945066	48945066	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgatgctgcagtgctcaatTacatggcccgcaaggacgag	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945066T>C	ENST00000263269.3	+	11	2381	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	765					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)	AGTGCTCAATTACATGGCCCG	0.637																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2293-2295)Tac>Cac		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						64	51	56					19																	48945066		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945066T>C	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.2293T>C	19.37:g.48945066T>C	ENSP00000263269:p.Tyr765His						p.Y765H	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	11	2381	+		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)	765						Missense_Mutation	SNP	ENST00000263269.3	37	c.2293T>C	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.398480	0.62177	.	.	ENSG00000105464	ENST00000263269	T	0.56611	0.45	4.62	4.62	0.57501	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.86178	2.8	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.79300	-0.1860	10	0.87932	D	0	.	13.4795	0.61328	0.0:0.0:0.0:1.0	.	765	O15399	NMDE4_HUMAN	H	765	ENSP00000263269:Y765H	ENSP00000263269:Y765H	Y	+	1	0	GRIN2D	53636878	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.860000	0.86993	2.090000	0.63153	0.374000	0.22700	TAC		0.637	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			50	187	0	0	0	1	0	50	187					C	48945066	T	C	48945066	3	2	79	1	0	0	0	0	1	0	0	0	6812	1754	61	4	2331	4	GRIN2D	19	48945066	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	22087	48945066	10183917	19478	29795											
GRIN2D	2906	broad.mit.edu	37	chr19	48945465	48945465	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atctgccacaatgacaaaatCgaggtgatgagcagcaagct	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945465C>T	ENST00000263269.3	+	12	2587	c.2499C>T	c.(2497-2499)atC>atT	p.I833I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	833					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)	ATGACAAAATCGAGGTGATGA	0.582																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2497-2499)atC>atT		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						157	151	153					19																	48945465		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945465C>T	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.2499C>T	19.37:g.48945465C>T							p.I833I	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	2587	+		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)	833						Silent	SNP	ENST00000263269.3	37	c.2499C>T	CCDS12719.1																																																																																				0.582	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			197	814	0	0	0	1	0	197	814					T	48945465	C	T	48945465	2	4	79	1	0	0	0	0	0	0	0	1	6812	874	31	1		1	GRIN2D	19	48945465	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399	48945465	10183518	19479	29796											
GRWD1	83743	broad.mit.edu	37	chr19	48953707	48953707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccgggatgagcaggcCcaaatgaagcccatcttctc	9	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953707C>T	ENST00000253237.5	+	4	839	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	202						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ATGAGCAGGCCCAAATGAAGC	0.657																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(604-606)gcC>gcT		glutamate-rich WD repeat containing 1							70	73	72					19																	48953707		2203	4300	6503	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48953707C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.606C>T	19.37:g.48953707C>T							p.A202A	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	4	839	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	202					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.606C>T	CCDS12720.1																																																																																				0.657	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		84	405	0	0	0	1	0	84	405					T	48953707	C	T	48953707	2	4	79	1	0	0	0	0	0	0	0	1	6841	610	22	2		2	GRWD1	19	48953707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8242	48953707	10175276	19480	29797											
GRWD1	83743	broad.mit.edu	37	chr19	48953963	48953963	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtcaaaagaacatccacctCtggacacctacggacggcgg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953963C>A	ENST00000253237.5	+	5	956	c.723C>A	c.(721-723)ctC>ctA	p.L241L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	241						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACATCCACCTCTGGACACCTA	0.637																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(721-723)ctC>ctA		glutamate-rich WD repeat containing 1							48	44	45					19																	48953963		2203	4300	6503	SO:0001819	synonymous_variant	83743					nucleolus		g.chr19:48953963C>A	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.723C>A	19.37:g.48953963C>A							p.L241L	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	5	956	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	241					Q8TF59	Silent	SNP	ENST00000253237.5	37	c.723C>A	CCDS12720.1																																																																																				0.637	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		61	258	1	0	1.80625e-27	1	2.09175e-27	61	258					A	48953963	C	A	48953963	2	1	79	1	0	0	0	0	0	0	0	1	6841	900	32	3		3	GRWD1	19	48953963	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	256	48953963	10175020	19481	29798											
GRWD1	83743	broad.mit.edu	37	chr19	48956001	48956001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttcaagcagcacgtgGcccccgtgacctccgtcgag	10	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956001G>A	ENST00000253237.5	+	7	1293	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	354						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GCAGCACGTGGCCCCCGTGAC	0.652																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(1060-1062)Gcc>Acc		glutamate-rich WD repeat containing 1							67	65	66					19																	48956001		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48956001G>A	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1060G>A	19.37:g.48956001G>A	ENSP00000253237:p.Ala354Thr						p.A354T	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1293	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	354					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.1060G>A	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195000	0.94960	.	.	ENSG00000105447	ENST00000253237	T	0.61040	0.14	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.181454	0.46145	D	0.000309	T	0.73055	0.3538	M	0.87269	2.87	0.58432	D	0.999998	P	0.44281	0.831	P	0.51974	0.686	T	0.70930	-0.4738	10	0.19147	T	0.46	.	18.1988	0.89831	0.0:0.0:1.0:0.0	.	354	Q9BQ67	GRWD1_HUMAN	T	354	ENSP00000253237:A354T	ENSP00000253237:A354T	A	+	1	0	GRWD1	53647813	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	2.686000	0.91538	0.561000	0.74099	GCC		0.652	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		25	536	0	0	0	1	0	25	536					A	48956001	G	A	48956001	3	1	79	1	0	0	0	0	1	0	0	0	6841	1203	42	2	1086	2	GRWD1	19	48956001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2038	48956001	10172982	19482	29799											
GRWD1	83743	broad.mit.edu	37	chr19	48956239	48956239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagggctcctggtcagcaCggcgctgtcaggcttcacca	12	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48956239C>T	ENST00000253237.5	+	7	1531	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	433						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTGGTCAGCACGGCGCTGTCA	0.632																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(1297-1299)aCg>aTg		glutamate-rich WD repeat containing 1							43	47	45					19																	48956239		2203	4300	6503	SO:0001583	missense	83743					nucleolus		g.chr19:48956239C>T	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1298C>T	19.37:g.48956239C>T	ENSP00000253237:p.Thr433Met						p.T433M	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	7	1531	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	433					Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	c.1298C>T	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319539	0.81469	.	.	ENSG00000105447	ENST00000253237	T	0.01379	4.96	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.123114	0.53938	D	0.000055	T	0.13586	0.0329	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01776	-1.1276	10	0.87932	D	0	.	17.3051	0.87192	0.0:1.0:0.0:0.0	.	433	Q9BQ67	GRWD1_HUMAN	M	433	ENSP00000253237:T433M	ENSP00000253237:T433M	T	+	2	0	GRWD1	53648051	1.000000	0.71417	0.979000	0.43373	0.668000	0.39293	5.211000	0.65219	2.449000	0.82847	0.561000	0.74099	ACG		0.632	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		10	528	0	0	0	1	0	10	528					T	48956239	C	T	48956239	3	4	79	1	0	0	0	0	1	0	0	0	6841	536	19	1	1324	1	GRWD1	19	48956239	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	238	48956239	10172744	19483	29800											
KCNJ14	3770	broad.mit.edu	37	chr19	48965133	48965133	+	Missense_Mutation	SNP	G	G	A													cgtgggccggcgccgcggtcGcttcgtcaagaaagacgggc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965133G>A	ENST00000391884.1	+	1	628	c.152G>A	c.(151-153)cGc>cAc	p.R51H	KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	51					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CGCCGCGGTCGCTTCGTCAAG	0.701																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(151-153)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 14							31	22	25					19																	48965133		2196	4295	6491	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965133G>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.152G>A	19.37:g.48965133G>A	ENSP00000375756:p.Arg51His					KCNJ14_ENST00000342291.2_Missense_Mutation_p.R51H	p.R51H			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	628	+		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)	51						Missense_Mutation	SNP	ENST00000391884.1	37	c.152G>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517175	0.64634	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.94862	-3.54;-3.54	4.36	2.15	0.27550	.	0.357017	0.28262	N	0.016000	D	0.92133	0.7506	N	0.08118	0	0.47065	D	0.999305	D	0.89917	1.0	D	0.97110	1.0	D	0.90891	0.4761	10	0.87932	D	0	.	8.9956	0.36050	0.0:0.162:0.6701:0.1679	.	51	Q9UNX9	IRK14_HUMAN	H	51	ENSP00000341479:R51H;ENSP00000375756:R51H	ENSP00000341479:R51H	R	+	2	0	KCNJ14	53656945	1.000000	0.71417	0.981000	0.43875	0.254000	0.26022	9.436000	0.97532	0.553000	0.29044	-0.165000	0.13383	CGC		0.701	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		17	54	0	0	0	1	0	17	54					A	48965133	G	A	48965133	3	1	79	1	0	0	0	0	1	0	0	0	8078	1087	38	1	154	1	KCNJ14	19	48965133	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8894	48965133	10163850	19484	29801	193	2									
KCNJ14	3770	broad.mit.edu	37	chr19	48965137	48965137	+	Silent	SNP	C	C	T													ggccggcgccgcggtcgcttCgtcaagaaagacgggcactg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965137C>T	ENST00000391884.1	+	1	632	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNJ14_ENST00000342291.2_Silent_p.F52F			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	52					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	GCGGTCGCTTCGTCAAGAAAG	0.706																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(154-156)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 14							33	24	27					19																	48965137		2201	4298	6499	SO:0001819	synonymous_variant	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965137C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.156C>T	19.37:g.48965137C>T						KCNJ14_ENST00000342291.2_Silent_p.F52F	p.F52F			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	632	+		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)	52						Silent	SNP	ENST00000391884.1	37	c.156C>T	CCDS12721.1																																																																																				0.706	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		16	63	0	0	0	1	0	16	63					T	48965137	C	T	48965137	2	4	79	1	0	0	0	0	0	0	0	1	8078	883	31	1		1	KCNJ14	19	48965137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4	48965137	10163846	19485	29802	193	2									
KCNJ14	3770	broad.mit.edu	37	chr19	48965230	48965230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgttcaccacatgcgtggaCgtgcgctggcgctggatgtg	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965230C>T	ENST00000391884.1	+	1	725	c.249C>T	c.(247-249)gaC>gaT	p.D83D	KCNJ14_ENST00000342291.2_Silent_p.D83D			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	83					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CATGCGTGGACGTGCGCTGGC	0.642																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(247-249)gaC>gaT		potassium inwardly-rectifying channel, subfamily J, member 14							75	42	53					19																	48965230		2203	4300	6503	SO:0001819	synonymous_variant	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965230C>T	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.249C>T	19.37:g.48965230C>T						KCNJ14_ENST00000342291.2_Silent_p.D83D	p.D83D			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	725	+		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)	83						Silent	SNP	ENST00000391884.1	37	c.249C>T	CCDS12721.1																																																																																				0.642	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		29	117	0	0	0	1	0	29	117					T	48965230	C	T	48965230	2	4	79	1	0	0	0	0	0	0	0	1	8078	535	19	1		1	KCNJ14	19	48965230	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93	48965230	10163753	19486	29803											
KCNJ14	3770	broad.mit.edu	37	chr19	48965405	48965405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggccgccttcctcttcgcgCtggagacgcagacgtccatc	11	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965405C>A	ENST00000391884.1	+	1	900	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M			Q9UNX9	KCJ14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	142					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	Yohimbine(DB01392)	CCTCTTCGCGCTGGAGACGCA	0.721																																					NSCLC(148;170 3504 35216)	ENST00000391884.1																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10						c.(424-426)Ctg>Atg		potassium inwardly-rectifying channel, subfamily J, member 14							8	8	8					19																	48965405		2164	4221	6385	SO:0001583	missense	3770					voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr19:48965405C>A	BC042033	CCDS12721.1	19q13	2011-07-05				ENSG00000182324		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6260	protein-coding gene	gene with protein product		603953				9592090, 10723734, 16382105	Standard	NM_013348		Approved	Kir2.4, IRK4	uc002pje.2	Q9UNX9		ENST00000391884.1:c.424C>A	19.37:g.48965405C>A	ENSP00000375756:p.Leu142Met					KCNJ14_ENST00000342291.2_Missense_Mutation_p.L142M	p.L142M			Q9UNX9	IRK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)	1	900	+		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)	142						Missense_Mutation	SNP	ENST00000391884.1	37	c.424C>A	CCDS12721.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723657	0.68959	.	.	ENSG00000182324	ENST00000342291;ENST00000391884	D;D	0.95069	-3.6;-3.6	4.69	4.69	0.59074	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.64402	D	0.000005	D	0.94653	0.8276	L	0.52573	1.65	0.50813	D	0.999895	P	0.46952	0.887	P	0.57548	0.823	D	0.94311	0.7545	10	0.72032	D	0.01	.	9.2025	0.37268	0.0:0.9:0.0:0.1	.	142	Q9UNX9	IRK14_HUMAN	M	142	ENSP00000341479:L142M;ENSP00000375756:L142M	ENSP00000341479:L142M	L	+	1	2	KCNJ14	53657217	0.006000	0.16342	1.000000	0.80357	0.972000	0.66771	0.017000	0.13399	2.323000	0.78572	0.591000	0.81541	CTG		0.721	KCNJ14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466127.1	NM_013348		9	50	1	0	0.00829132	1	0.00834067	9	50					A	48965405	C	A	48965405	3	1	79	1	0	0	0	0	1	0	0	0	8078	796	28	3	426	3	KCNJ14	19	48965405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175	48965405	10163578	19487	29804											
CYTH2	9266	broad.mit.edu	37	chr19	48977504	48977504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccacaatcccaatgtcCgggacaagccgggcctggag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48977504C>T	ENST00000452733.2	+	7	1089	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	CYTH2_ENST00000427476.1_Missense_Mutation_p.R205W			Q99418	CYH2_HUMAN	cytohesin 2	205					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						TCCCAATGTCCGGGACAAGCC	0.637																																						ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(613-615)Cgg>Tgg		cytohesin 2							102	86	91					19																	48977504		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48977504C>T	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.613C>T	19.37:g.48977504C>T	ENSP00000408236:p.Arg205Trp					CYTH2_ENST00000452733.2_Missense_Mutation_p.R205W	p.R205W	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			7	913	+			205					A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	c.613C>T	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462289	0.63513	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.55930	0.49;0.49;0.49	4.16	0.172	0.15031	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.70903	2.155	0.54753	D	0.999981	D	0.65815	0.995	D	0.63793	0.918	T	0.68693	-0.5341	10	0.87932	D	0	.	11.7766	0.51989	0.3952:0.6048:0.0:0.0	.	205	Q99418-2	.	W	205;205;227	ENSP00000408236:R205W;ENSP00000391648:R205W;ENSP00000314566:R227W	ENSP00000314566:R227W	R	+	1	2	CYTH2	53669316	0.954000	0.32549	0.971000	0.41717	0.651000	0.38670	1.644000	0.37228	0.320000	0.23234	0.561000	0.74099	CGG		0.637	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228		96	491	0	0	0	1	0	96	491					T	48977504	C	T	48977504	3	4	79	1	0	0	0	0	1	0	0	0	4215	643	23	1	639	1	CYTH2	19	48977504	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12099	48977504	10151479	19488	29805											
LMTK3	114783	broad.mit.edu	37	chr19	49001742	49001742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcccgcagggacatcagcaGctgttccgtgctcacttgaa	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49001742G>T	ENST00000600059.1	-	11	2811	c.2584C>A	c.(2584-2586)Ctg>Atg	p.L862M	LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	862	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)		GACATCAGCAGCTGTTCCGTG	0.706																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(2584-2586)Ctg>Atg		lemur tyrosine kinase 3							11	12	11					19																	49001742		1909	4130	6039	SO:0001583	missense	114783							g.chr19:49001742G>T	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.2584C>A	19.37:g.49001742G>T	ENSP00000472020:p.Leu862Met					LMTK3_ENST00000270238.3_Missense_Mutation_p.L891M	p.L862M						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	11	2811	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.2584C>A		.	.	.	.	.	.	.	.	.	.	G	7.959	0.746601	0.15710	.	.	ENSG00000142235	ENST00000270238	D	0.86366	-2.11	3.37	1.09	0.20402	.	0.407546	0.17495	N	0.172205	D	0.84120	0.5402	N	0.14661	0.345	0.24288	N	0.995175	D	0.76494	0.999	D	0.66716	0.946	T	0.74147	-0.3759	10	0.52906	T	0.07	.	7.5999	0.28069	0.2278:0.0:0.7722:0.0	.	862	Q96Q04	LMTK3_HUMAN	M	891	ENSP00000270238:L891M	ENSP00000270238:L891M	L	-	1	2	LMTK3	53693554	0.172000	0.23043	0.992000	0.48379	0.408000	0.30992	0.810000	0.27183	0.253000	0.21552	0.449000	0.29647	CTG		0.706	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		8	40	1	0	5.4927e-09	1	5.7613e-09	8	40					T	49001742	G	T	49001742	3	4	79	1	0	0	0	0	1	0	0	0	8893	962	34	3	1818	3	LMTK3	19	49001742	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24238	49001742	10127241	19489	29806											
SPACA4	171169	broad.mit.edu	37	chr19	49110298	49110298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcacgacgggcgtcaaGgactgcgtcttctgtgagct	14	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49110298G>A	ENST00000321762.1	+	1	299	c.63G>A	c.(61-63)aaG>aaA	p.K21K	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	21					cell adhesion (GO:0007155)	anchored component of membrane (GO:0031225)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		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;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CGGGCGTCAAGGACTGCGTCT	0.662																																						ENST00000321762.1																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5						c.(61-63)aaG>aaA		sperm acrosome associated 4							81	73	76					19																	49110298		2203	4300	6503	SO:0001819	synonymous_variant	171169				cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane		g.chr19:49110298G>A		CCDS12725.1	19q13.33	2013-10-24			ENSG00000177202	ENSG00000177202			16441	protein-coding gene	gene with protein product		609932					Standard	NM_133498		Approved	SAMP14	uc002pjo.3	Q8TDM5	OTTHUMG00000183316	ENST00000321762.1:c.63G>A	19.37:g.49110298G>A						FAM83E_ENST00000263266.3_Intron	p.K21K	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	1	299	+		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)	21						Silent	SNP	ENST00000321762.1	37	c.63G>A	CCDS12725.1																																																																																				0.662	SPACA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466149.1	NM_133498		9	520	0	0	0	1	0	9	520					A	49110298	G	A	49110298	2	1	79	1	0	0	0	0	0	0	0	1	15024	991	35	2		2	SPACA4	19	49110298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	108556	49110298	10018685	19490	29807											
RPL18	6141	broad.mit.edu	37	chr19	49119337	49119337	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaccacgtatcactcaccGgagagcaggacagtgccaca	10	14	2	1	rs370747953		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49119337G>A	ENST00000549920.1	-	5	812	c.420C>T	c.(418-420)tcC>tcT	p.S140S	FAM83E_ENST00000595110.1_5'Flank|RPL18_ENST00000549273.1_Splice_Site_p.S140S|FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000550645.1_Intron|RPL18_ENST00000552588.1_Splice_Site_p.S111S	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	140					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		ATCACTCACCGGAGAGCAGGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18536	0.0		0.001	False		,,,				2504	0.0					ENST00000549273.1																			0				cervix(1)|kidney(2)	3						c.e5+1		ribosomal protein L18		G		0,4406		0,0,2203	83	70	75		420	-2.7	1	19		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	RPL18	NM_000979.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		140/189	49119337	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	6141				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr19:49119337G>A	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.421+1C>T	19.37:g.49119337G>A						RPL18_ENST00000550645.1_Intron|RPL18_ENST00000549920.1_Splice_Site_p.S140_splice|RPL18_ENST00000552588.1_Splice_Site_p.S111_splice	p.S140_splice			Q07020	RL18_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)	5	453	-		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)	140					F8VWC5|Q8WTZ6	Splice_Site	SNP	ENST00000549920.1	37	c.421_splice	CCDS12726.1	.	.	.	.	.	.	.	.	.	.	G	4.252	0.045780	0.08196	0.0	1.16E-4	ENSG00000063177	ENST00000084795;ENST00000546623	.	.	.	4.74	-2.69	0.06022	.	.	.	.	.	T	0.50257	0.1605	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40590	-0.9555	4	.	.	.	-12.0717	6.6251	0.22824	0.4645:0.0:0.4143:0.1212	.	.	.	.	W	142;119	.	.	R	-	1	2	RPL18	53811149	0.977000	0.34250	0.956000	0.39512	0.117000	0.20001	0.122000	0.15687	-0.953000	0.03645	-1.202000	0.01658	CGG		0.652	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	NM_000979	Silent	15	377	0	0	0	1	0	15	377					A	49119337	G	A	49119337	5	1	79	1	0	0	0	0	0	0	1	0	13614	1130	39	1	158	1	RPL18	19	49119337	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9039	49119337	10009646	19491	29808											
RPL18	6141	broad.mit.edu	37	chr19	49120059	49120059	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgtcttgttttcccggCcaggaagcttcatcttccgg	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49120059C>T	ENST00000549920.1	-	4	613	c.221G>A	c.(220-222)gGc>gAc	p.G74D	AC022154.7_ENST00000600303.1_RNA|AC022154.7_ENST00000598735.1_RNA|FAM83E_ENST00000595110.1_5'Flank|RPL18_ENST00000549273.1_Missense_Mutation_p.G74D|SPHK2_ENST00000245222.4_5'Flank|SPHK2_ENST00000601712.1_5'Flank|SPHK2_ENST00000600537.1_5'Flank|SPHK2_ENST00000598088.1_5'Flank|SPHK2_ENST00000340932.3_5'Flank|RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	74					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		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;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GTTTTCCCGGCCAGGAAGCTT	0.577																																						ENST00000549273.1																			0				cervix(1)|kidney(2)	3						c.(220-222)gGc>gAc		ribosomal protein L18							88	82	84					19																	49120059		2203	4300	6503	SO:0001583	missense	6141				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr19:49120059C>T	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"L ribosomal proteins"	10310	protein-coding gene	gene with protein product	"60S ribosomal protein L18"	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.221G>A	19.37:g.49120059C>T	ENSP00000447001:p.Gly74Asp					RPL18_ENST00000550645.1_Missense_Mutation_p.G74D|RPL18_ENST00000549920.1_Missense_Mutation_p.G74D|RPL18_ENST00000552588.1_Missense_Mutation_p.G45D	p.G74D			Q07020	RL18_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)	4	254	-		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)	74					F8VWC5|Q8WTZ6	Missense_Mutation	SNP	ENST00000549920.1	37	c.221G>A	CCDS12726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.665205|4.665205	0.88251|0.88251	.|.	.|.	ENSG00000063177|ENSG00000063177	ENST00000549920;ENST00000550645;ENST00000552588;ENST00000549273;ENST00000550973;ENST00000450952|ENST00000084795;ENST00000546623	.|.	.|.	.|.	4.34|4.34	4.34|4.34	0.51931|0.51931	Ribosomal protein L18e/L15P (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69169|.	0.3081|.	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	P;B|.	0.41008|.	0.735;0.001|.	B;B|.	0.34931|.	0.192;0.019|.	T|.	0.68108|.	-0.5496|.	9|.	0.48119|.	T|.	0.1|.	-17.543|-17.543	14.7267|14.7267	0.69349|0.69349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;74|.	B4DDY5;Q07020|.	.;RL18_HUMAN|.	D|X	74;74;45;74;22;74|75;46	.|.	ENSP00000407348:G74D|.	G|W	-|-	2|3	0|0	RPL18|RPL18	53811871|53811871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.579000|6.579000	0.74036|0.74036	2.426000|2.426000	0.82243|0.82243	0.478000|0.478000	0.44815|0.44815	GGC|TGG		0.577	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2	NM_000979		12	405	0	0	0	1	0	12	405					T	49120059	C	T	49120059	3	4	79	1	0	0	0	0	1	0	0	0	13614	739	26	2	361	2	RPL18	19	49120059	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	722	49120059	10008924	19492	29809											
DBP	1628	broad.mit.edu	37	chr19	49134162	49134162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggacagctcctggcgcaCggccacaacttcctgccgca	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134162C>T	ENST00000222122.5	-	4	1353	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DBP_ENST00000593500.1_Missense_Mutation_p.V102M|DBP_ENST00000599385.1_Missense_Mutation_p.V102M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	304	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCCTGGCGCACGGCCACAACT	0.697																																						ENST00000222122.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(910-912)Gtg>Atg		D site of albumin promoter (albumin D-box) binding protein							20	22	21					19																	49134162		2202	4300	6502	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134162C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.910G>A	19.37:g.49134162C>T	ENSP00000222122:p.Val304Met					DBP_ENST00000599385.1_Missense_Mutation_p.V102M|DBP_ENST00000593500.1_Missense_Mutation_p.V102M	p.V304M	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1353	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	304			Leucine-zipper.		A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.910G>A	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462057	0.43736	.	.	ENSG00000105516	ENST00000222122	T	0.44083	0.93	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.187492	0.43919	U	0.000519	T	0.28101	0.0693	N	0.16266	0.395	0.37155	D	0.902331	B	0.33739	0.422	B	0.38458	0.274	T	0.25641	-1.0126	10	0.44086	T	0.13	-14.5292	8.2508	0.31717	0.0:0.8921:0.0:0.1079	.	304	Q10586	DBP_HUMAN	M	304	ENSP00000222122:V304M	ENSP00000222122:V304M	V	-	1	0	DBP	53825974	0.002000	0.14202	0.971000	0.41717	0.865000	0.49528	-0.017000	0.12590	2.364000	0.80123	0.563000	0.77884	GTG		0.697	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		17	74	0	0	0	1	0	17	74					T	49134162	C	T	49134162	3	4	79	1	0	0	0	0	1	0	0	0	4267	536	19	1	71	1	DBP	19	49134162	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14103	49134162	9994821	19493	29810											
DBP	1628	broad.mit.edu	37	chr19	49134254	49134254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagccgccgggcgtcaCgggaccgcttggctgcctcg	15	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134254C>T	ENST00000222122.5	-	4	1261	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DBP_ENST00000593500.1_Missense_Mutation_p.R71H|DBP_ENST00000599385.1_Missense_Mutation_p.R71H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	273	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCGGGCGTCACGGGACCGCTT	0.642																																						ENST00000222122.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(817-819)cGt>cAt		D site of albumin promoter (albumin D-box) binding protein							31	32	32					19																	49134254		2203	4300	6503	SO:0001583	missense	1628				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:49134254C>T	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.818G>A	19.37:g.49134254C>T	ENSP00000222122:p.Arg273His					DBP_ENST00000599385.1_Missense_Mutation_p.R71H|DBP_ENST00000593500.1_Missense_Mutation_p.R71H	p.R273H	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)	4	1261	-		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	273					A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	c.818G>A	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809129	0.90707	.	.	ENSG00000105516	ENST00000222122	T	0.72167	-0.63	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	D	0.89612	0.6765	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93238	0.6623	10	0.87932	D	0	-16.2193	15.7386	0.77866	0.0:1.0:0.0:0.0	.	273	Q10586	DBP_HUMAN	H	273	ENSP00000222122:R273H	ENSP00000222122:R273H	R	-	2	0	DBP	53826066	1.000000	0.71417	0.794000	0.32065	0.938000	0.57974	5.689000	0.68234	2.364000	0.80123	0.563000	0.77884	CGT		0.642	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352		32	111	0	0	0	1	0	32	111					T	49134254	C	T	49134254	3	4	79	1	0	0	0	0	1	0	0	0	4267	536	19	1	163	1	DBP	19	49134254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92	49134254	9994729	19494	29811											
NTN5	126147	broad.mit.edu	37	chr19	49167894	49167894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctccagaacccaggttgGcagtagtggcagtgccgccc	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49167894G>A	ENST00000270235.4	-	3	857	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	254	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.					extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACCCAGGTTGGCAGTAGTGGC	0.657																																						ENST00000270235.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						c.(760-762)tgC>tgT		netrin 5							32	29	30					19																	49167894		2203	4300	6503	SO:0001819	synonymous_variant	126147					extracellular region		g.chr19:49167894G>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.762C>T	19.37:g.49167894G>A						SEC1P_ENST00000430145.2_RNA	p.C254C	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN			3	857	-			254			Laminin EGF-like 2.		Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	c.762C>T	CCDS33068.1																																																																																				0.657	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		21	133	0	0	0	1	0	21	133					A	49167894	G	A	49167894	2	1	79	1	0	0	0	0	0	0	0	1	10745	1195	42	2		2	NTN5	19	49167894	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33640	49167894	9961089	19495	29812											
FUT2	2524	broad.mit.edu	37	chr19	49206490	49206490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaagatgaacgggcggcccGccttcatcccggcccagatg	12	16	1	3	rs112722916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49206490G>A	ENST00000425340.2	+	2	394	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	93					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGGCGGCCCGCCTTCATCCC	0.652																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(277-279)Gcc>Acc		fucosyltransferase 2 (secretor status included)							28	28	28					19																	49206490		2202	4299	6501	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49206490G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.277G>A	19.37:g.49206490G>A	ENSP00000387498:p.Ala93Thr					FUT2_ENST00000391876.4_Missense_Mutation_p.A93T	p.A93T	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	394	+		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)	93					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.277G>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956907	0.53293	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96856	-4.15;-4.15;-4.15	4.19	4.19	0.49359	.	.	.	.	.	D	0.97961	0.9329	M	0.84326	2.69	0.35320	D	0.784649	D	0.89917	1.0	D	0.97110	1.0	D	0.99970	1.1963	9	0.66056	D	0.02	.	14.4048	0.67075	0.0:0.0:1.0:0.0	.	93	Q10981	FUT2_HUMAN	T	93	ENSP00000430227:A93T;ENSP00000387498:A93T;ENSP00000375748:A93T	ENSP00000375748:A93T	A	+	1	0	FUT2	53898302	1.000000	0.71417	0.894000	0.35097	0.049000	0.14656	4.284000	0.58983	2.037000	0.60232	0.549000	0.68633	GCC		0.652	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		39	201	0	0	0	1	0	39	201					A	49206490	G	A	49206490	3	1	79	1	0	0	0	0	1	0	0	0	6131	1087	38	1	279	1	FUT2	19	49206490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38596	49206490	9922493	19496	29813											
FUT2	2524	broad.mit.edu	37	chr19	49207006	49207006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgatgtggtgtttgctggcGatggcattgagggctcacct	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49207006G>A	ENST00000425340.2	+	2	910	c.793G>A	c.(793-795)Gat>Aat	p.D265N	FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	265					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GTTTGCTGGCGATGGCATTGA	0.547																																						ENST00000425340.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(793-795)Gat>Aat		fucosyltransferase 2 (secretor status included)							262	214	230					19																	49207006		2203	4300	6503	SO:0001583	missense	2524				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49207006G>A		CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"Fucosyltransferases"	4013	protein-coding gene	gene with protein product	"alpha (1,2) fucosyltransferase", "galactoside 2-alpha-L-fucosyltransferase 2", "GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2", "alpha(1,2)FT2", "secretor factor", "secretor blood group alpha-2-fucosyltransferase"	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.793G>A	19.37:g.49207006G>A	ENSP00000387498:p.Asp265Asn					FUT2_ENST00000391876.4_Missense_Mutation_p.D265N	p.D265N	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)	2	910	+		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)	265					Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	ENST00000425340.2	37	c.793G>A	CCDS33069.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074326	0.01903	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.96587	-4.06;-4.06	5.25	-3.23	0.05109	.	.	.	.	.	D	0.86543	0.5958	N	0.01779	-0.725	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.73148	-0.4074	8	.	.	.	.	14.106	0.65091	0.3518:0.0:0.6482:0.0	.	265	Q10981	FUT2_HUMAN	N	265	ENSP00000387498:D265N;ENSP00000375748:D265N	.	D	+	1	0	FUT2	53898818	0.000000	0.05858	0.002000	0.10522	0.101000	0.19017	-0.826000	0.04429	-0.736000	0.04831	-0.275000	0.10095	GAT		0.547	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378731.2	NM_000511		12	802	0	0	0	1	0	12	802					A	49207006	G	A	49207006	3	1	79	1	0	0	0	0	1	0	0	0	6131	1058	37	1	795	1	FUT2	19	49207006	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	516	49207006	9921977	19497	29814											
BCAT2	587	broad.mit.edu	37	chr19	49303312	49303312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacccagtccttgtccacttCgatgagccggcggatgcact	11	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49303312C>T	ENST00000316273.6	-	5	469	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000402551.1_Missense_Mutation_p.E113K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	153					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)	p.E153K(1)		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)	TTGTCCACTTCGATGAGCCGG	0.642																																						ENST00000402551.1																			1	Substitution - Missense(1)	p.E153K(1)	skin(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(337-339)Gaa>Aaa		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						41	43	43					19																	49303312		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49303312C>T	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.457G>A	19.37:g.49303312C>T	ENSP00000322991:p.Glu153Lys					BCAT2_ENST00000599246.1_Missense_Mutation_p.E61K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E61K|BCAT2_ENST00000598162.1_Missense_Mutation_p.E153K|BCAT2_ENST00000316273.6_Missense_Mutation_p.E153K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E113K	p.E113K			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	6	957	-		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)	153					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.337G>A	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	5.292	0.239195	0.10023	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.16324	2.35;2.35;2.35	4.86	1.33	0.21861	.	0.159471	0.53938	D	0.000054	T	0.05686	0.0149	N	0.05306	-0.075	0.53005	D	0.999963	B;B;B;B	0.24963	0.013;0.115;0.002;0.115	B;B;B;B	0.19391	0.01;0.025;0.002;0.015	T	0.38628	-0.9652	10	0.02654	T	1	-7.9185	8.2993	0.32004	0.0:0.6183:0.2964:0.0852	.	113;153;61;153	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	K	153;61;113	ENSP00000322991:E153K;ENSP00000440973:E61K;ENSP00000385161:E113K	ENSP00000322991:E153K	E	-	1	0	BCAT2	53995124	0.047000	0.20315	0.007000	0.13788	0.559000	0.35586	1.230000	0.32612	0.152000	0.19188	0.561000	0.74099	GAA		0.642	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			66	209	0	0	0	1	0	66	209					T	49303312	C	T	49303312	3	4	79	1	0	0	0	0	1	0	0	0	1356	893	31	1	749	1	BCAT2	19	49303312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96306	49303312	9825671	19498	29815											
PLEKHA4	57664	broad.mit.edu	37	chr19	49357476	49357476	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatcagtgacaacttacatCtgtctccaagctttggtgga	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49357476C>A	ENST00000263265.6	-	10	1648	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	365						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CAACTTACATCTGTCTCCAAG	0.512																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1093-1095)Gat>Tat		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							109	116	114					19																	49357476		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49357476C>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1093G>T	19.37:g.49357476C>A	ENSP00000263265:p.Asp365Tyr					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.D340Y	p.D365Y	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	10	1648	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	365					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.1093G>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936060	0.73442	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.39056	1.1;1.1	5.2	5.2	0.72013	.	0.367900	0.25380	N	0.031082	T	0.61825	0.2378	M	0.64997	1.995	0.39509	D	0.968337	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.65672	-0.6111	10	0.87932	D	0	.	14.6028	0.68453	0.0:1.0:0.0:0.0	.	340;365	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	Y	365;340	ENSP00000263265:D365Y;ENSP00000347683:D340Y	ENSP00000263265:D365Y	D	-	1	0	PLEKHA4	54049288	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.439000	0.52878	2.580000	0.87095	0.563000	0.77884	GAT		0.512	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			120	468	1	0	1.84609e-46	1	2.26828e-46	120	468					A	49357476	C	A	49357476	3	1	79	1	0	0	0	0	1	0	0	0	12100	913	32	3	1290	3	PLEKHA4	19	49357476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	54164	49357476	9771507	19499	29816											
PLEKHA4	57664	broad.mit.edu	37	chr19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggggctcctcgccctccGcatctggagtccagagtgga	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(673-675)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							45	39	41					19																	49362745		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362745G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.673C>T	19.37:g.49362745G>A	ENSP00000263265:p.Arg225Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1228	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	225			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.673C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG		0.637	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			40	172	0	0	0	1	0	40	172					A	49362745	G	A	49362745	3	1	79	1	0	0	0	0	1	0	0	0	12100	1086	38	1	1722	1	PLEKHA4	19	49362745	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5269	49362745	9766238	19500	29817											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377870	49377870	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgattcagaagcagcCttgggagaagctgagtcaga	14	6	2	6	rs368067897		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49377870C>A	ENST00000200453.5	+	2	1649	c.1380C>A	c.(1378-1380)gcC>gcA	p.A460A		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	460	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CAGAAGCAGCCTTGGGAGAAG	0.562																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1378-1380)gcC>gcA		protein phosphatase 1, regulatory subunit 15A							74	74	74					19																	49377870		2203	4300	6503	SO:0001819	synonymous_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377870C>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1380C>A	19.37:g.49377870C>A							p.A460A	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1649	+		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)	460			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	c.1380C>A	CCDS12738.1																																																																																				0.562	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		9	459	1	0	0.000442599	1	0.000448314	9	459					A	49377870	C	A	49377870	2	1	79	1	0	0	0	0	0	0	0	1	12410	668	24	3		3	PPP1R15A	19	49377870	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15125	49377870	9751113	19501	29818											
PPP1R15A	23645	broad.mit.edu	37	chr19	49378030	49378030	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgagtggccatctatgtaCctggagagaagccaccgcct	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49378030C>T	ENST00000200453.5	+	2	1809	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	514	Interaction with KMT2A/MLL1.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.P514S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CATCTATGTACCTGGAGAGAA	0.622																																						ENST00000200453.5																			1	Substitution - Missense(1)	p.P514S(1)	skin(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1540-1542)Cct>Tct		protein phosphatase 1, regulatory subunit 15A							51	49	50					19																	49378030		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49378030C>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1540C>T	19.37:g.49378030C>T	ENSP00000200453:p.Pro514Ser						p.P514S	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1809	+		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)	514			Interaction with MLL.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1540C>T	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321945	0.81580	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15256	2.44	4.43	4.43	0.53597	.	0.092903	0.35349	N	0.003273	T	0.33381	0.0861	L	0.54323	1.7	0.39850	D	0.973228	D	0.89917	1.0	D	0.85130	0.997	T	0.03403	-1.1040	10	0.20519	T	0.43	-15.4289	13.3017	0.60328	0.0:1.0:0.0:0.0	.	514	O75807	PR15A_HUMAN	S	514;354;472	ENSP00000200453:P514S	ENSP00000200453:P514S	P	+	1	0	PPP1R15A	54069842	0.978000	0.34361	0.957000	0.39632	0.936000	0.57629	2.332000	0.43903	2.414000	0.81942	0.650000	0.86243	CCT		0.622	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		79	321	0	0	0	1	0	79	321					T	49378030	C	T	49378030	3	4	79	1	0	0	0	0	1	0	0	0	12410	507	18	2	1542	2	PPP1R15A	19	49378030	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	160	49378030	9750953	19502	29819											
PPP1R15A	23645	broad.mit.edu	37	chr19	49379046	49379046	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cacccctgctgcccgggccaGagcctgggcacgcctcagga	13	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49379046G>A	ENST00000200453.5	+	3	2110	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	614					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCCCGGGCCAGAGCCTGGGCA	0.692																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1840-1842)aGa>aAa		protein phosphatase 1, regulatory subunit 15A							117	134	128					19																	49379046		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379046G>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1841G>A	19.37:g.49379046G>A	ENSP00000200453:p.Arg614Lys						p.R614K	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	2110	+		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)	614					B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1841G>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485260	0.63962	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.15834	2.39	4.96	2.66	0.31614	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.153148	0.39909	N	0.001222	T	0.15132	0.0365	L	0.35414	1.06	0.33439	D	0.582152	P	0.47484	0.896	P	0.47470	0.548	T	0.15492	-1.0435	10	0.66056	D	0.02	-17.293	6.0042	0.19537	0.1016:0.1936:0.7048:0.0	.	614	O75807	PR15A_HUMAN	K	614;454;572	ENSP00000200453:R614K	ENSP00000200453:R614K	R	+	2	0	PPP1R15A	54070858	0.728000	0.28080	1.000000	0.80357	0.997000	0.91878	1.044000	0.30329	1.404000	0.46819	0.655000	0.94253	AGA		0.692	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		156	1746	0	0	0	1	0	156	1746					A	49379046	G	A	49379046	3	1	79	1	0	0	0	0	1	0	0	0	12410	942	33	2	1847	2	PPP1R15A	19	49379046	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1016	49379046	9749937	19503	29820											
GYS1	2997	broad.mit.edu	37	chr19	49473039	49473039	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccactcaccgcatccGcctcgttgggctcgtaggtg	13	14	1	0	rs371546215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49473039G>A	ENST00000323798.3	-	15	2079	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	GYS1_ENST00000263276.6_Missense_Mutation_p.A564V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000541188.1_Missense_Mutation_p.A548V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	628					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)		CACCGCATCCGCCTCGTTGGG	0.612																																						ENST00000323798.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1882-1884)gCg>gTg		glycogen synthase 1 (muscle)		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	63	58	60		1691,1883	3.3	0.7	19		60	0,8600		0,0,4300	no	missense,missense	GYS1	NM_001161587.1,NM_002103.4	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	564/674,628/738	49473039	1,13005	2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49473039G>A		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.1883C>T	19.37:g.49473039G>A	ENSP00000317904:p.Ala628Val					GYS1_ENST00000541188.1_Missense_Mutation_p.A548V|GYS1_ENST00000544287.1_Missense_Mutation_p.A261V|GYS1_ENST00000263276.6_Missense_Mutation_p.A564V	p.A628V	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	15	2079	-		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)	628					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.1883C>T	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	G	9.037	0.988775	0.18966	2.27E-4	0.0	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.43	3.3	0.37823	.	0.246452	0.40222	N	0.001156	T	0.32526	0.0832	N	0.08118	0	0.80722	D	1	P;P;P	0.41929	0.765;0.529;0.637	B;B;B	0.34301	0.179;0.102;0.179	T	0.10847	-1.0612	10	0.11485	T	0.65	-7.818	9.6035	0.39619	0.1748:0.0:0.8252:0.0	.	548;564;628	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	V	628;564;548;261	ENSP00000317904:A628V;ENSP00000263276:A564V;ENSP00000437922:A548V;ENSP00000444004:A261V	ENSP00000263276:A564V	A	-	2	0	GYS1	54164851	0.932000	0.31603	0.665000	0.29768	0.152000	0.21847	3.622000	0.54217	0.767000	0.33267	-0.140000	0.14226	GCG		0.612	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		51	230	0	0	0	1	0	51	230					A	49473039	G	A	49473039	3	1	79	1	0	0	0	0	1	0	0	0	6942	1087	38	1	338	1	GYS1	19	49473039	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93993	49473039	9655944	19504	29821											
RUVBL2	10856	broad.mit.edu	37	chr19	49507607	49507607	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggagatgatccgggaagGgaagattgccggtcgggcag	19	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49507607G>T	ENST00000595090.1	+	4	661	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G21V|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	66					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCCGGGAAGGGAAGATTGCC	0.662																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(61-63)gGg>gTg		RuvB-like AAA ATPase 2							50	56	54					19																	49507607		1966	4136	6102	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49507607G>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.197G>T	19.37:g.49507607G>T	ENSP00000473172:p.Gly66Val					RUVBL2_ENST00000601968.1_Missense_Mutation_p.G21V|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G66V	p.G21V			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	4	1210	+		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)	66					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.62G>T	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871445	0.91587	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.51325	0.71;0.8	4.74	4.74	0.60224	TIP49, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	H	0.98089	4.145	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.978;0.981	D	0.87759	0.2597	10	0.87932	D	0	-53.1308	15.594	0.76562	0.0:0.0:1.0:0.0	.	66;66;32	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	V	66;21	ENSP00000221413:G66V;ENSP00000413890:G21V	ENSP00000221413:G66V	G	+	2	0	RUVBL2	54199419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.639000	0.91023	2.366000	0.80165	0.561000	0.74099	GGG		0.662	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			90	423	1	0	5.92634e-42	1	7.20812e-42	90	423					T	49507607	G	T	49507607	3	4	79	1	0	0	0	0	1	0	0	0	13803	1232	43	3	211	3	RUVBL2	19	49507607	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34568	49507607	9621376	19505	29822											
RUVBL2	10856	broad.mit.edu	37	chr19	49510398	49510398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcggtccatcggcgttcGcatcaagtaagcgggggacc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510398G>A	ENST00000595090.1	+	5	853	c.389G>A	c.(388-390)cGc>cAc	p.R130H	RUVBL2_ENST00000413176.2_Missense_Mutation_p.R85H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	130					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCGGCGTTCGCATCAAGTAA	0.657																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(253-255)cGc>cAc		RuvB-like AAA ATPase 2							36	40	39					19																	49510398		1939	4129	6068	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510398G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.389G>A	19.37:g.49510398G>A	ENSP00000473172:p.Arg130His					RUVBL2_ENST00000601968.1_Missense_Mutation_p.R85H|RUVBL2_ENST00000595090.1_Missense_Mutation_p.R130H	p.R85H			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	5	1402	+		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)	130					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.254G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829808	0.71258	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.58652	0.32;0.55	5.33	5.33	0.75918	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	H	0.94542	3.55	0.80722	D	1	D;P;D	0.89917	1.0;0.458;0.999	D;B;D	0.65233	0.926;0.07;0.933	D	0.86680	0.1916	10	0.72032	D	0.01	-22.1592	16.8831	0.86068	0.0:0.0:1.0:0.0	.	130;130;96	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	H	130;85	ENSP00000221413:R130H;ENSP00000413890:R85H	ENSP00000221413:R130H	R	+	2	0	RUVBL2	54202210	1.000000	0.71417	0.985000	0.45067	0.551000	0.35334	8.874000	0.92363	2.667000	0.90743	0.561000	0.74099	CGC		0.657	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			19	485	0	0	0	1	0	19	485					A	49510398	G	A	49510398	3	1	79	1	0	0	0	0	1	0	0	0	13803	1087	38	1	407	1	RUVBL2	19	49510398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2791	49510398	9618585	19506	29823											
RUVBL2	10856	broad.mit.edu	37	chr19	49510577	49510577	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agggaggagacggagatcatCgaaggggaggtggtggagat	21	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510577C>T	ENST00000595090.1	+	6	878	c.414C>T	c.(412-414)atC>atT	p.I138I	RUVBL2_ENST00000413176.2_Silent_p.I93I|RUVBL2_ENST00000601968.1_Silent_p.I93I	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	138					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGAGATCATCGAAGGGGAGG	0.582																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(277-279)atC>atT		RuvB-like AAA ATPase 2							103	113	110					19																	49510577		2087	4213	6300	SO:0001819	synonymous_variant	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510577C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.414C>T	19.37:g.49510577C>T						RUVBL2_ENST00000601968.1_Silent_p.I93I|RUVBL2_ENST00000595090.1_Silent_p.I138I	p.I93I			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	6	1427	+		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)	138					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	ENST00000595090.1	37	c.279C>T	CCDS42588.1																																																																																				0.582	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			28	279	0	0	0	1	0	28	279					T	49510577	C	T	49510577	2	4	79	1	0	0	0	0	0	0	0	1	13803	874	31	1		1	RUVBL2	19	49510577	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	49510577	9618406	19507	29824											
RUVBL2	10856	broad.mit.edu	37	chr19	49513315	49513315	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgactacgacgctatgGgctcccaggtgcggccggga	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49513315G>T	ENST00000595090.1	+	8	1119	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	RUVBL2_ENST00000413176.2_Missense_Mutation_p.G174C|RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	219					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGACGCTATGGGCTCCCAGGT	0.652																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(520-522)Ggc>Tgc		RuvB-like AAA ATPase 2							32	34	33					19																	49513315		1941	4115	6056	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49513315G>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.655G>T	19.37:g.49513315G>T	ENSP00000473172:p.Gly219Cys					RUVBL2_ENST00000601968.1_Missense_Mutation_p.G174C|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G219C	p.G174C			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	8	1668	+		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)	219					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.520G>T	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038964	0.75617	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T	0.47177	0.85	4.19	4.19	0.49359	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.77585	0.4152	H	0.95982	3.75	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	0.85128	0.0973	10	0.87932	D	0	-33.5793	14.4091	0.67103	0.0:0.0:1.0:0.0	.	219;219;185	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	C	219;174	ENSP00000413890:G174C	ENSP00000221413:G219C	G	+	1	0	RUVBL2	54205127	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	8.327000	0.90012	2.341000	0.79615	0.650000	0.86243	GGC		0.652	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			46	189	1	0	2.68985e-26	1	3.09749e-26	46	189					T	49513315	G	T	49513315	3	4	79	1	0	0	0	0	1	0	0	0	13803	1232	43	3	685	3	RUVBL2	19	49513315	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2738	49513315	9615668	19508	29825											
CGB1	114335	broad.mit.edu	37	chr19	49539472	49539472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccttctccacagccaggGtggcattgatggggcggcac	13	14	1	1	rs202067695		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49539472G>A	ENST00000301407.7	-	2	202	c.98C>T	c.(97-99)aCc>aTc	p.T33I	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Missense_Mutation_p.T33I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	65						extracellular region (GO:0005576)				liver(1)|lung(1)	2		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)		CACAGCCAGGGTGGCATTGAT	0.672																																						ENST00000301407.7																			0				liver(1)|lung(1)	2						c.(97-99)aCc>aTc		chorionic gonadotropin, beta polypeptide 1							24	26	25					19																	49539472		1484	2659	4143	SO:0001583	missense	114335					extracellular region	hormone activity	g.chr19:49539472G>A	S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.98C>T	19.37:g.49539472G>A	ENSP00000301407:p.Thr33Ile					CGB1_ENST00000391869.3_Missense_Mutation_p.T33I|CTB-60B18.6_ENST00000591656.1_Intron	p.T33I	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	202	-		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)	65					A4FVC8|A8MUK6	Missense_Mutation	SNP	ENST00000301407.7	37	c.98C>T	CCDS12751.2	.	.	.	.	.	.	.	.	.	.	g	5.170	0.216905	0.09810	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	D;D	0.92099	-2.97;-2.97	1.79	1.79	0.24919	.	0.111798	0.64402	D	0.000014	D	0.87997	0.6319	.	.	.	0.36859	D	0.888294	B	0.27656	0.184	B	0.32149	0.141	D	0.87299	0.2304	9	0.51188	T	0.08	-22.3916	9.6174	0.39701	0.0:0.0:1.0:0.0	.	33	A6NKQ9-2	.	I	33	ENSP00000301407:T33I;ENSP00000375742:T33I	ENSP00000301407:T33I	T	-	2	0	CGB1	54231284	1.000000	0.71417	0.999000	0.59377	0.145000	0.21501	3.163000	0.50763	1.313000	0.45069	0.184000	0.17185	ACC		0.672	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316746.4	NM_033377		87	494	0	0	0	1	0	87	494					A	49539472	G	A	49539472	3	1	79	1	0	0	0	0	1	0	0	0	3306	1261	44	2	377	2	CGB1	19	49539472	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26157	49539472	9589511	19509	29826											
KCNA7	3743	broad.mit.edu	37	chr19	49573470	49573470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacatcccagcctcttcGccctctgtctcccggtgata	7	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49573470G>A	ENST00000221444.1	-	2	1576	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	407					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)	CAGCCTCTTCGCCCTCTGTCT	0.592																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1219-1221)ggC>ggT		potassium voltage-gated channel, shaker-related subfamily, member 7							72	68	69					19																	49573470		2203	4300	6503	SO:0001819	synonymous_variant	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573470G>A	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.1221C>T	19.37:g.49573470G>A							p.G407G	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1576	-		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)	407					A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	c.1221C>T	CCDS12755.1																																																																																				0.592	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		77	254	0	0	0	1	0	77	254					A	49573470	G	A	49573470	2	1	79	1	0	0	0	0	0	0	0	1	8038	1074	38	1		1	KCNA7	19	49573470	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33998	49573470	9555513	19510	29827											
KCNA7	3743	broad.mit.edu	37	chr19	49575299	49575299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcaccgggccggctgCggctgcagcagcaagccccg	14	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49575299C>T	ENST00000221444.1	-	1	899	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	182					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)	GGGCCGGCTGCGGCTGCAGCA	0.701																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(544-546)Gca>Aca		potassium voltage-gated channel, shaker-related subfamily, member 7							7	8	8					19																	49575299		1827	3688	5515	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49575299C>T	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.544G>A	19.37:g.49575299C>T	ENSP00000221444:p.Ala182Thr						p.A182T	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	1	899	-		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)	182					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.544G>A	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833847	0.32421	.	.	ENSG00000104848	ENST00000221444	D	0.97665	-4.48	4.28	4.28	0.50868	.	1.488200	0.03933	N	0.285642	D	0.94368	0.8189	L	0.29908	0.895	0.29307	N	0.868284	B	0.09022	0.002	B	0.04013	0.001	T	0.80837	-0.1204	10	0.11182	T	0.66	.	14.6178	0.68560	0.0:1.0:0.0:0.0	.	182	Q96RP8	KCNA7_HUMAN	T	182	ENSP00000221444:A182T	ENSP00000221444:A182T	A	-	1	0	KCNA7	54267111	0.022000	0.18835	0.086000	0.20670	0.007000	0.05969	3.360000	0.52299	2.134000	0.65973	0.485000	0.47835	GCA		0.701	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		23	84	0	0	0	1	0	23	84					T	49575299	C	T	49575299	3	4	79	1	0	0	0	0	1	0	0	0	8038	768	27	1	834	1	KCNA7	19	49575299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1829	49575299	9553684	19511	29828											
SNRNP70	6625	broad.mit.edu	37	chr19	49611533	49611533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcacaaacggggggagCggggcagtgagcggggcagg	23	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49611533C>T	ENST00000598441.1	+	10	1371	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R374W			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	383	Arg/Asp/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						acggggggagcggggcagtga	0.721																																						ENST00000221448.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						c.(1120-1122)Cgg>Tgg		small nuclear ribonucleoprotein 70kDa (U1)							8	13	11					19																	49611533		2169	4257	6426	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49611533C>T		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.1147C>T	19.37:g.49611533C>T	ENSP00000472998:p.Arg383Trp					SNRNP70_ENST00000598441.1_Missense_Mutation_p.R383W	p.R374W	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN			10	1316	+			383			Arg/Asp/Glu-rich (mixed charge).		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.1120C>T	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408900	0.42715	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	3.54	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.53270	0.1786	N	0.24115	0.695	0.51482	D	0.99992	D;D	0.89917	0.999;1.0	D;P	0.64321	0.924;0.846	T	0.55970	-0.8056	9	0.72032	D	0.01	-5.0902	10.7043	0.45946	0.0:0.8034:0.1966:0.0	.	383;374	P08621;P08621-2	RU17_HUMAN;.	W	383;287	.	ENSP00000221448:R383W	R	+	1	2	SNRNP70	54303345	0.944000	0.32072	1.000000	0.80357	0.735000	0.41995	1.292000	0.33342	0.809000	0.34255	-0.499000	0.04595	CGG		0.721	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		5	53	0	0	0	1	0	5	53					T	49611533	C	T	49611533	3	4	79	1	0	0	0	0	1	0	0	0	14908	759	27	1	1181	1	SNRNP70	19	49611533	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36234	49611533	9517450	19512	29829											
C19orf73	55150	broad.mit.edu	37	chr19	49621899	49621899	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccaagagactagtccgaGggcggagggcggaggcaggg	19	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49621899G>A	ENST00000408991.2	-	1	498	c.381C>T	c.(379-381)ccC>ccT	p.P127P	PPFIA3_ENST00000334186.4_5'Flank	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	127										large_intestine(1)|lung(2)	3						ACTAGTCCGAGGGCGGAGGGC	0.597																																						ENST00000408991.2																			0				large_intestine(1)|lung(2)	3						c.(379-381)ccC>ccT		chromosome 19 open reading frame 73							51	59	56					19																	49621899		2072	4180	6252	SO:0001819	synonymous_variant	55150							g.chr19:49621899G>A	AK001352	CCDS42589.1	19q13.33	2013-06-17			ENSG00000221916	ENSG00000221916			25534	protein-coding gene	gene with protein product						12477932	Standard	NM_018111		Approved	FLJ10490	uc002pmq.4	Q9NVV2	OTTHUMG00000183345	ENST00000408991.2:c.381C>T	19.37:g.49621899G>A							p.P127P	NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN			1	498	-			127					Q6NSX4	Silent	SNP	ENST00000408991.2	37	c.381C>T	CCDS42589.1																																																																																				0.597	C19orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466275.1	NM_018111		22	581	0	0	0	1	0	22	581					A	49621899	G	A	49621899	2	1	79	1	0	0	0	0	0	0	0	1	1955	987	35	2		2	C19orf73	19	49621899	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10366	49621899	9507084	19513	29830											
PPFIA3	8541	broad.mit.edu	37	chr19	49632175	49632175	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatgaccgtggtgaagcGccaggcccagtccccgggtg	16	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49632175G>A	ENST00000334186.4	+	4	762	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	138					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)		GTGGTGAAGCGCCAGGCCCAG	0.597																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(412-414)cGc>cAc		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							56	61	59					19																	49632175		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49632175G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.413G>A	19.37:g.49632175G>A	ENSP00000335614:p.Arg138His					PPFIA3_ENST00000602351.1_Missense_Mutation_p.R138H	p.R138H	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	4	762	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	138					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.413G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	36	5.858546	0.97036	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.51325	0.71	4.74	4.74	0.60224	.	0.000000	0.44097	D	0.000481	T	0.56352	0.1979	N	0.24115	0.695	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.61845	-0.6979	10	0.87932	D	0	-14.6239	17.0217	0.86435	0.0:0.0:1.0:0.0	.	62;138;138	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	H	138;62	ENSP00000335614:R138H	ENSP00000335614:R138H	R	+	2	0	PPFIA3	54323987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.596000	0.98267	2.646000	0.89796	0.563000	0.77884	CGC		0.597	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		80	406	0	0	0	1	0	80	406					A	49632175	G	A	49632175	3	1	79	1	0	0	0	0	1	0	0	0	12353	1087	38	1	423	1	PPFIA3	19	49632175	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10276	49632175	9496808	19514	29831											
HRC	3270	broad.mit.edu	37	chr19	49655301	49655301	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaccagcgggcagagataGcagaactgacagtgctggag	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49655301G>A	ENST00000252825.4	-	4	2172	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C	HRC_ENST00000595625.1_Silent_p.C639C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	662	Metal-binding. {ECO:0000255}.				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)		GGCAGAGATAGCAGAACTGAC	0.677																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1984-1986)tgC>tgT		histidine rich calcium binding protein							36	38	38					19																	49655301		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49655301G>A		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.1986C>T	19.37:g.49655301G>A						HRC_ENST00000595625.1_Silent_p.C639C	p.C662C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	4	2172	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	662			Metal-binding (Potential).		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1986C>T	CCDS12759.1																																																																																				0.677	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		9	264	0	0	0	1	0	9	264					A	49655301	G	A	49655301	2	1	79	1	0	0	0	0	0	0	0	1	7382	963	34	2		2	HRC	19	49655301	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23126	49655301	9473682	19515	29832											
HRC	3270	broad.mit.edu	37	chr19	49656971	49656971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggctgccatgatgggtGcctttctctccctgctctga	10	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					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)		CATGATGGGTGCCTTTCTCTC	0.552																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1522-1524)ggC>ggT		histidine rich calcium binding protein							107	86	93					19																	49656971		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656971G>A		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.1524C>T	19.37:g.49656971G>A						HRC_ENST00000595625.1_Silent_p.G508G	p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1710	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	508					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1524C>T	CCDS12759.1																																																																																				0.552	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		52	217	0	0	0	1	0	52	217					A	49656971	G	A	49656971	2	1	79	1	0	0	0	0	0	0	0	1	7382	1306	46	2		2	HRC	19	49656971	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1670	49656971	9472012	19516	29833											
HRC	3270	broad.mit.edu	37	chr19	49657295	49657295	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggaagtcctcttcatcactCttgtggcctcgaggttggtg	12	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49657295C>T	ENST00000252825.4	-	1	1386	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	HRC_ENST00000595625.1_Silent_p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	400					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)		CTTCATCACTCTTGTGGCCTC	0.517																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1198-1200)aaG>aaA		histidine rich calcium binding protein							118	110	113					19																	49657295		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657295C>T		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.1200G>A	19.37:g.49657295C>T						HRC_ENST00000595625.1_Silent_p.K400K	p.K400K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1386	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	400					Q504Y6	Silent	SNP	ENST00000252825.4	37	c.1200G>A	CCDS12759.1																																																																																				0.517	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		93	453	0	0	0	1	0	93	453					T	49657295	C	T	49657295	2	4	79	1	0	0	0	0	0	0	0	1	7382	912	32	2		2	HRC	19	49657295	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324	49657295	9471688	19517	29834											
HRC	3270	broad.mit.edu	37	chr19	49658323	49658323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggctgtggaggtggtggcGaagctctgctgatgcctcct	17	9	1	1	rs557094516		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49658323G>A	ENST00000252825.4	-	1	358	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.R58C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	58					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)		AGGTGGTGGCGAAGCTCTGCT	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19069	0.0		0.0	False		,,,				2504	0.0				Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(172-174)Cgc>Tgc		histidine rich calcium binding protein							193	164	174					19																	49658323		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658323G>A		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.172C>T	19.37:g.49658323G>A	ENSP00000252825:p.Arg58Cys					HRC_ENST00000595625.1_Missense_Mutation_p.R58C	p.R58C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	358	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	58					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.172C>T	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.619296	0.28801	.	.	ENSG00000130528	ENST00000252825	T	0.07114	3.22	3.26	-0.0384	0.13880	.	.	.	.	.	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.04013	0.001	T	0.38824	-0.9643	9	0.72032	D	0.01	-1.5384	4.9026	0.13782	0.0:0.604:0.1801:0.2159	.	58	P23327	SRCH_HUMAN	C	58	ENSP00000252825:R58C	ENSP00000252825:R58C	R	-	1	0	HRC	54350135	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.539000	0.23175	0.070000	0.16634	-0.220000	0.12472	CGC		0.577	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		107	507	0	0	0	1	0	107	507					A	49658323	G	A	49658323	3	1	79	1	0	0	0	0	1	0	0	0	7382	1058	37	1	1951	1	HRC	19	49658323	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1028	49658323	9470660	19518	29835											
TRPM4	54795	broad.mit.edu	37	chr19	49675021	49675021	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggaccttgaggtcctgcagGcccaggtatgacactggggg	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49675021G>T	ENST00000252826.5	+	8	1171	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S|TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	349					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)		GGTCCTGCAGGCCCAGGTATG	0.642																																						ENST00000252826.5																			0				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						c.(1045-1047)Gcc>Tcc		transient receptor potential cation channel, subfamily M, member 4							20	22	21					19																	49675021		2203	4299	6502	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49675021G>T	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.1045G>T	19.37:g.49675021G>T	ENSP00000252826:p.Ala349Ser					TRPM4_ENST00000355712.5_Missense_Mutation_p.A66S|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.A349S	p.A349S	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	8	1171	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	349					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.1045G>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331366	0.60853	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.35605	1.3;1.3;1.75	5.05	5.05	0.67936	.	0.161181	0.41823	D	0.000807	T	0.51312	0.1667	L	0.51422	1.61	0.23991	N	0.996245	B;D;D;B	0.76494	0.01;0.999;0.99;0.304	B;D;P;B	0.80764	0.029;0.994;0.829;0.105	T	0.40997	-0.9533	10	0.23891	T	0.37	-25.9946	14.2646	0.66107	0.0:0.0:1.0:0.0	.	66;175;349;349	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	S	349;349;66	ENSP00000252826:A349S;ENSP00000407492:A349S;ENSP00000347944:A66S	ENSP00000252826:A349S	A	+	1	0	TRPM4	54366833	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.828000	0.62730	2.529000	0.85273	0.591000	0.81541	GCC		0.642	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		34	137	1	0	8.4185e-14	1	9.11178e-14	34	137					T	49675021	G	T	49675021	3	4	79	1	0	0	0	0	1	0	0	0	16641	1203	42	3	1075	3	TRPM4	19	49675021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16698	49675021	9453962	19519	29836											
TRPM4	54795	broad.mit.edu	37	chr19	49703979	49703979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttcccaagtatcctgCgccgcgtcttctaccgtccc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49703979C>T	ENST00000252826.5	+	19	3016	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	964					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)		AAGTATCCTGCGCCGCGTCTT	0.617																																						ENST00000252826.5																			0				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						c.(2890-2892)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 4							64	58	60					19																	49703979		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49703979C>T	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.2890C>T	19.37:g.49703979C>T	ENSP00000252826:p.Arg964Cys					TRPM4_ENST00000355712.5_Missense_Mutation_p.R610C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R819C	p.R964C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	19	3016	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	964					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2890C>T	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590570	0.66219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.73469	-0.75;-0.75;-0.75	4.57	3.46	0.39613	.	0.123452	0.56097	D	0.000034	D	0.87509	0.6195	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.90009	0.4120	10	0.87932	D	0	-24.2806	13.4979	0.61436	0.1561:0.8439:0.0:0.0	.	610;790;819;964	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	964;819;610	ENSP00000252826:R964C;ENSP00000407492:R819C;ENSP00000347944:R610C	ENSP00000252826:R964C	R	+	1	0	TRPM4	54395791	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	3.521000	0.53472	2.271000	0.75665	0.313000	0.20887	CGC		0.617	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		48	280	0	0	0	1	0	48	280					T	49703979	C	T	49703979	3	4	79	1	0	0	0	0	1	0	0	0	16641	768	27	1	2964	1	TRPM4	19	49703979	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28958	49703979	9425004	19520	29837											
TRPM4	54795	broad.mit.edu	37	chr19	49713653	49713653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agccgtcctccccggccctcGagcatttccgtaagaacaga	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49713653G>A	ENST00000252826.5	+	21	3445	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K|TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1107	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCGGCCCTCGAGCATTTCCG	0.622																																						ENST00000252826.5																			0				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						c.(3319-3321)Gag>Aag		transient receptor potential cation channel, subfamily M, member 4							19	22	21					19																	49713653		2200	4294	6494	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49713653G>A	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.3319G>A	19.37:g.49713653G>A	ENSP00000252826:p.Glu1107Lys					TRPM4_ENST00000355712.5_Missense_Mutation_p.E753K|TRPM4_ENST00000427978.2_Missense_Mutation_p.E962K	p.E1107K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	21	3445	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1107			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3319G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970452	0.34754	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.50548	0.74;0.74;0.74	4.51	-2.58	0.06228	.	13.009600	0.00166	N	0.000000	T	0.21674	0.0522	N	0.04373	-0.215	0.09310	N	1	B;B;B;B	0.18610	0.029;0.013;0.013;0.005	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.18241	-1.0343	10	0.08837	T	0.75	-9.0442	5.8779	0.18838	0.2718:0.4661:0.2621:0.0	.	753;933;962;1107	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	K	1107;962;753	ENSP00000252826:E1107K;ENSP00000407492:E962K;ENSP00000347944:E753K	ENSP00000252826:E1107K	E	+	1	0	TRPM4	54405465	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.756000	0.04777	-0.065000	0.13021	0.313000	0.20887	GAG		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		60	254	0	0	0	1	0	60	254					A	49713653	G	A	49713653	3	1	79	1	0	0	0	0	1	0	0	0	16641	1059	37	1	3401	1	TRPM4	19	49713653	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9674	49713653	9415330	19521	29838											
SLC6A16	28968	broad.mit.edu	37	chr19	49812269	49812269	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagacagttgttggactgggGcatgtaggaggctaaggagg	19	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49812269G>T	ENST00000335875.4	-	7	1334	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	SLC6A16_ENST00000454748.3_Missense_Mutation_p.P365T|MIR4324_ENST00000584846.1_RNA	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	365					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTGGACTGGGGCATGTAGGAG	0.488																																						ENST00000454748.3																			0				NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1093-1095)Ccc>Acc		solute carrier family 6, member 16							140	136	137					19																	49812269		2067	4182	6249	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812269G>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1093C>A	19.37:g.49812269G>T	ENSP00000338627:p.Pro365Thr					SLC6A16_ENST00000335875.4_Missense_Mutation_p.P365T	p.P365T			Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	7	1294	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	365					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1093C>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215951	0.39201	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.75050	-0.9;-0.9	4.38	-7.37	0.01412	.	0.693049	0.14340	N	0.325763	T	0.51517	0.1679	L	0.39566	1.225	0.09310	N	1	P;P	0.36789	0.57;0.57	B;B	0.37943	0.261;0.261	T	0.48896	-0.8994	10	0.23891	T	0.37	.	0.833	0.01134	0.2528:0.3354:0.1588:0.2531	.	365;365	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	T	365	ENSP00000338627:P365T;ENSP00000404022:P365T	ENSP00000338627:P365T	P	-	1	0	SLC6A16	54504081	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.867000	0.04241	-1.132000	0.02907	-0.258000	0.10820	CCC		0.488	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		117	502	1	0	3.30846e-59	1	4.15322e-59	117	502					T	49812269	G	T	49812269	3	4	79	1	0	0	0	0	1	0	0	0	14729	1203	42	3	1141	3	SLC6A16	19	49812269	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98616	49812269	9316714	19522	29839											
TEAD2	8463	broad.mit.edu	37	chr19	49850619	49850619	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacgaacaggtgcctctggTactgaggagggttggccgtg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	ENST00000311227.2	-	9	827	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	TEAD2_ENST00000598810.1_Splice_Site_p.Y250C|TEAD2_ENST00000593945.1_Splice_Site_p.Y250C|TEAD2_ENST00000539846.1_Splice_Site_p.Y118C|TEAD2_ENST00000377214.4_Splice_Site_p.Y249C|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000601519.1_Splice_Site_p.Y249C	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	246	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTGCCTCTGGTACTGAGGAGG	0.632																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.e8-1		TEA domain family member 2							70	78	75					19																	49850619		2203	4300	6503	SO:0001630	splice_region_variant	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49850619T>C	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.736-1A>G	19.37:g.49850619T>C						TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000593945.1_Splice_Site_p.Y250_splice|TEAD2_ENST00000539846.1_Splice_Site_p.Y118_splice|TEAD2_ENST00000598810.1_Splice_Site_p.Y250_splice|TEAD2_ENST00000601519.1_Splice_Site_p.Y249_splice|TEAD2_ENST00000311227.2_Splice_Site_p.Y246_splice	p.Y249_splice			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	1108	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	246			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Splice_Site	SNP	ENST00000311227.2	37	c.744_splice	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321648	0.60634	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.37058	1.22;1.22;1.22	5.03	2.72	0.32119	.	0.354519	0.23528	N	0.047206	T	0.46054	0.1373	L	0.56396	1.775	0.39856	D	0.97331	D;B;D	0.69078	0.997;0.047;0.971	P;B;P	0.57776	0.827;0.117;0.813	T	0.46428	-0.9192	10	0.62326	D	0.03	-12.8121	8.2952	0.31982	0.3265:0.0:0.0:0.6735	.	118;246;249	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	C	246;249;118	ENSP00000310701:Y246C;ENSP00000366419:Y249C;ENSP00000437928:Y118C	ENSP00000310701:Y246C	Y	-	2	0	TEAD2	54542431	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.937000	0.40193	0.843000	0.35070	0.533000	0.62120	TAC		0.632	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598	Missense_Mutation	111	502	0	0	0	1	0	111	502					C	49850619	T	C	49850619	5	2	79	1	0	0	0	0	0	0	1	0	15791	1652	57	4	622	4	TEAD2	19	49850619	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38350	49850619	9278364	19523	29840											
DKKL1	27120	broad.mit.edu	37	chr19	49878129	49878129	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagggcggccactggctcagCgagaagcgacaccgcctgca	15	14	1	1	rs375202437		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49878129C>T	ENST00000221498.2	+	5	978	c.573C>T	c.(571-573)agC>agT	p.S191S	DKKL1_ENST00000594268.1_Silent_p.S49S|AC010524.2_ENST00000599433.1_RNA	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	191					anatomical structure morphogenesis (GO:0009653)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	signal transducer activity (GO:0004871)			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		ACTGGCTCAGCGAGAAGCGAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16007	0.0		0.0	False		,,,				2504	0.001					ENST00000221498.2																			0				large_intestine(2)|upper_aerodigestive_tract(1)	3						c.(571-573)agC>agT		dickkopf-like 1							27	30	29					19																	49878129		2203	4300	6503	SO:0001819	synonymous_variant	27120				anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity	g.chr19:49878129C>T	AB047816	CCDS12762.1	19q13.3	2010-10-12	2010-10-12		ENSG00000104901	ENSG00000104901			16528	protein-coding gene	gene with protein product	"cancer/testis antigen 34", "soggy"	605418	"dickkopf-like 1 (soggy)"			10570958	Standard	NM_001197301		Approved	SGY-1, CT34	uc002pnk.3	Q9UK85		ENST00000221498.2:c.573C>T	19.37:g.49878129C>T						DKKL1_ENST00000594268.1_Silent_p.S49S|AC010524.2_ENST00000599433.1_RNA	p.S191S	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)	5	978	+		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	191						Silent	SNP	ENST00000221498.2	37	c.573C>T	CCDS12762.1																																																																																				0.657	DKKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465454.2	NM_014419		35	189	0	0	0	1	0	35	189					T	49878129	C	T	49878129	2	4	79	1	0	0	0	0	0	0	0	1	4564	767	27	1		1	DKKL1	19	49878129	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27510	49878129	9250854	19524	29841											
SLC17A7	57030	broad.mit.edu	37	chr19	49938140	49938140	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caatagcaaagccgaaaactCtgatgggaagggtcagagaa	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49938140C>A	ENST00000221485.3	-	4	606		c.e4-1		SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCCGAAAACTCTGATGGGAAG	0.562																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.e4-1		solute carrier family 17 (vesicular glutamate transporter), member 7							55	53	54					19																	49938140		2203	4300	6503	SO:0001630	splice_region_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49938140C>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.435-1G>T	19.37:g.49938140C>A						SLC17A7_ENST00000543531.1_Splice_Site|SLC17A7_ENST00000600601.1_Splice_Site		NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	4	606	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)						B4DFR9|B4DG46|Q6PCD0	Splice_Site	SNP	ENST00000221485.3	37		CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652502	0.67472	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0618	0.80841	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A7	54629952	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	7.191000	0.77763	2.741000	0.93983	0.585000	0.79938	.		0.562	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		Intron	17	92	1	0	0.00400662	1	0.00403789	17	92					A	49938140	C	A	49938140	5	1	79	1	0	0	0	0	0	0	1	0	14472	927	32	3	1284	3	SLC17A7	19	49938140	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60011	49938140	9190843	19525	29842											
PIH1D1	55011	broad.mit.edu	37	chr19	49952887	49952887	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgaaaaccttcccttccGaggagttggtctttatgcag	10	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49952887G>A	ENST00000262265.5	-	3	417	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	61					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTTCCCTTCCGAGGAGTTGGT	0.542																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(181-183)tCg>tTg		PIH1 domain containing 1							123	109	114					19																	49952887		2203	4300	6503	SO:0001583	missense	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49952887G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.182C>T	19.37:g.49952887G>A	ENSP00000262265:p.Ser61Leu					PIH1D1_ENST00000596049.1_Missense_Mutation_p.S61L	p.S61L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	3	417	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	61					B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	ENST00000262265.5	37	c.182C>T	CCDS12765.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418996	0.25552	.	.	ENSG00000104872	ENST00000262265	T	0.16743	2.32	5.19	4.16	0.48862	.	0.562942	0.18438	N	0.141225	T	0.15565	0.0375	L	0.40543	1.245	0.09310	N	1	D;B	0.53462	0.96;0.044	B;B	0.43916	0.436;0.017	T	0.08680	-1.0710	10	0.32370	T	0.25	-2.1746	9.7784	0.40634	0.0949:0.0:0.9051:0.0	.	61;61	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	L	61	ENSP00000262265:S61L	ENSP00000262265:S61L	S	-	2	0	PIH1D1	54644699	0.024000	0.19004	0.002000	0.10522	0.302000	0.27658	2.235000	0.43044	1.199000	0.43173	0.561000	0.74099	TCG		0.542	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		41	186	0	0	0	1	0	41	186					A	49952887	G	A	49952887	3	1	79	1	0	0	0	0	1	0	0	0	11948	1059	37	1	718	1	PIH1D1	19	49952887	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14747	49952887	9176096	19526	29843											
PIH1D1	55011	broad.mit.edu	37	chr19	49954801	49954801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgcctccgcctcgcttaGccccattcccagcagcttcg	8	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49954801G>A	ENST00000262265.5	-	1	266	c.31C>T	c.(31-33)Cta>Tta	p.L11L	ALDH16A1_ENST00000293350.4_5'Flank|ALDH16A1_ENST00000540132.1_5'Flank|ALDH16A1_ENST00000455361.2_5'Flank|PIH1D1_ENST00000596049.1_Silent_p.L11L|ALDH16A1_ENST00000433981.2_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	11					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCGCTTAGCCCCATTCCC	0.612																																						ENST00000262265.5																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11						c.(31-33)Cta>Tta		PIH1 domain containing 1							88	75	80					19																	49954801		2203	4300	6503	SO:0001819	synonymous_variant	55011				box C/D snoRNP assembly	pre-snoRNP complex		g.chr19:49954801G>A	AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.31C>T	19.37:g.49954801G>A						PIH1D1_ENST00000596049.1_Silent_p.L11L	p.L11L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)	1	266	-		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	11					B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	ENST00000262265.5	37	c.31C>T	CCDS12765.1																																																																																				0.612	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465389.2	NM_017916		91	404	0	0	0	1	0	91	404					A	49954801	G	A	49954801	2	1	79	1	0	0	0	0	0	0	0	1	11948	962	34	2		2	PIH1D1	19	49954801	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1914	49954801	9174182	19527	29844											
ALDH16A1	126133	broad.mit.edu	37	chr19	49965961	49965961	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccggggggctgccgcAtgtgacctggtccagcgctt	18	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49965961A>G	ENST00000293350.4	+	8	1210	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000540132.1_Silent_p.A186A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000433981.2_Silent_p.A184A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	349						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGCTGCCGCATGTGACCTGG	0.697																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1045-1047)gcA>gcG		aldehyde dehydrogenase 16 family, member A1							23	26	25					19																	49965961		2202	4299	6501	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49965961A>G	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1047A>G	19.37:g.49965961A>G						ALDH16A1_ENST00000433981.2_Silent_p.A184A|ALDH16A1_ENST00000455361.2_Silent_p.A298A|ALDH16A1_ENST00000540132.1_Silent_p.A186A	p.A349A	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	8	1210	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	349					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.1047A>G	CCDS12766.1																																																																																				0.697	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		49	249	0	0	0	1	0	49	249					G	49965961	A	G	49965961	2	3	79	1	0	0	0	0	0	0	0	1	488	204	8	4		4	ALDH16A1	19	49965961	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	11160	49965961	9163022	19528	29845											
ALDH16A1	126133	broad.mit.edu	37	chr19	49969029	49969029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggctcttcgttgggggcCgtttccaggctcctggggcc	16	12	1	0	rs377255662		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49969029C>T	ENST00000293350.4	+	13	1766	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	535						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTTGGGGGCCGTTTCCAGGC	0.642																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1603-1605)Cgt>Tgt		aldehyde dehydrogenase 16 family, member A1		C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	41	47	45		1450,1603	3.9	1	19		45	0,8600		0,0,4300	no	missense,missense	ALDH16A1	NM_001145396.1,NM_153329.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	484/752,535/803	49969029	1,13005	2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49969029C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1603C>T	19.37:g.49969029C>T	ENSP00000293350:p.Arg535Cys					ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R370C|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R484C|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R372C|CTD-3148I10.9_ENST00000599536.1_Intron	p.R535C	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	13	1766	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	535					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1603C>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249887	0.80024	2.27E-4	0.0	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.05	3.94	0.45596	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.723110	0.13548	N	0.379647	T	0.28797	0.0714	N	0.08118	0	0.43226	D	0.995112	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.56278	0.795;0.53;0.628	T	0.20438	-1.0275	10	0.87932	D	0	-19.8971	11.934	0.52864	0.1745:0.8255:0.0:0.0	.	372;484;535	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	C	535;484;372;370	ENSP00000293350:R535C;ENSP00000410142:R484C;ENSP00000445088:R372C;ENSP00000398675:R370C	ENSP00000293350:R535C	R	+	1	0	ALDH16A1	54660841	0.637000	0.27216	1.000000	0.80357	0.990000	0.78478	1.559000	0.36320	2.349000	0.79799	0.561000	0.74099	CGT		0.642	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		92	329	0	0	0	1	0	92	329					T	49969029	C	T	49969029	3	4	79	1	0	0	0	0	1	0	0	0	488	652	23	1	1653	1	ALDH16A1	19	49969029	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3068	49969029	9159954	19529	29846											
ALDH16A1	126133	broad.mit.edu	37	chr19	49971803	49971803	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcggcctgtcctctgCtggccctggaggtctgccag	14	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49971803C>A	ENST00000293350.4	+	15	2267	c.2104C>A	c.(2104-2106)Ctg>Atg	p.L702M	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	702						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGTCCTCTGCTGGCCCTGGA	0.667																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(2104-2106)Ctg>Atg		aldehyde dehydrogenase 16 family, member A1							95	100	99					19																	49971803		2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49971803C>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2104C>A	19.37:g.49971803C>A	ENSP00000293350:p.Leu702Met					ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L537M|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L651M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L539M|CTD-3148I10.9_ENST00000599536.1_Intron	p.L702M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	15	2267	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	702					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.2104C>A	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356634	0.24598	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.21	1.93	0.25924	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.190007	0.45606	D	0.000358	T	0.31482	0.0798	L	0.41492	1.28	0.22911	N	0.998579	P;D;P	0.53885	0.923;0.963;0.937	P;P;P	0.54629	0.621;0.757;0.739	T	0.06679	-1.0813	10	0.48119	T	0.1	-10.9114	4.8466	0.13516	0.0:0.6511:0.217:0.1319	.	539;651;702	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	M	702;651;539;537	ENSP00000293350:L702M;ENSP00000410142:L651M;ENSP00000445088:L539M;ENSP00000398675:L537M	ENSP00000293350:L702M	L	+	1	2	ALDH16A1	54663615	0.969000	0.33509	0.985000	0.45067	0.028000	0.11728	2.083000	0.41615	0.450000	0.26774	-0.494000	0.04653	CTG		0.667	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		168	739	1	0	4.53004e-87	1	5.80951e-87	168	739					A	49971803	C	A	49971803	3	1	79	1	0	0	0	0	1	0	0	0	488	796	28	3	2162	3	ALDH16A1	19	49971803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2774	49971803	9157180	19530	29847											
RPS11	6205	broad.mit.edu	37	chr19	50001263	50001263	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacaaccgcttcgagaagCgccacaagaacatgtctgta	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50001263C>T	ENST00000270625.2	+	4	396	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	RPS11_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|SNORD35B_ENST00000363660.1_RNA|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V|MIR150_ENST00000385048.1_RNA	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	105					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|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)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		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;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CTTCGAGAAGCGCCACAAGAA	0.567																																						ENST00000270625.2																			0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(313-315)Cgc>Tgc		ribosomal protein S11							117	90	99					19																	50001263		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50001263C>T	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"S ribosomal proteins"	10384	protein-coding gene	gene with protein product	"40S ribosomal protein S11"	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.313C>T	19.37:g.50001263C>T	ENSP00000270625:p.Arg105Cys					RPS11_ENST00000594493.1_Missense_Mutation_p.R26C|RPS11_ENST00000596873.1_Missense_Mutation_p.R105C|RPS11_ENST00000599561.1_Missense_Mutation_p.A70V	p.R105C	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	4	396	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	105					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.313C>T	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949952	0.53186	.	.	ENSG00000142534	ENST00000270625	.	.	.	4.89	4.89	0.63831	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.109453	0.64402	N	0.000011	T	0.81740	0.4886	H	0.99712	4.72	0.80722	D	1	B	0.27229	0.172	B	0.13407	0.009	D	0.84106	0.0398	8	.	.	.	-23.5429	9.2385	0.37481	0.0:0.9009:0.0:0.0991	.	105	P62280	RS11_HUMAN	C	105	.	.	R	+	1	0	RPS11	54693075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.692000	0.61746	2.256000	0.74724	0.561000	0.74099	CGC		0.567	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	NM_001015		89	280	0	0	0	1	0	89	280					T	50001263	C	T	50001263	3	4	79	1	0	0	0	0	1	0	0	0	13671	768	27	1	327	1	RPS11	19	50001263	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29460	50001263	9127720	19531	29848											
FCGRT	2217	broad.mit.edu	37	chr19	50027917	50027917	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgacttcggccccaAcagtgacggatccttccacg	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50027917A>G	ENST00000221466.5	+	5	1241	c.755A>G	c.(754-756)aAc>aGc	p.N252S	FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	252	Alpha-3.|Ig-like C1-type.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCGGCCCCAACAGTGACGGA	0.632																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(754-756)aAc>aGc		Fc fragment of IgG, receptor, transporter, alpha							79	66	70					19																	50027917		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50027917A>G	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.755A>G	19.37:g.50027917A>G	ENSP00000221466:p.Asn252Ser					FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Missense_Mutation_p.N160S|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Missense_Mutation_p.N252S	p.N252S	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	5	1241	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	252			Alpha-3.		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.755A>G	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	A	7.758	0.704719	0.15172	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00623	6.15;6.15	4.31	3.3	0.37823	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000176	T	0.01976	0.0062	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62186	-0.6907	10	0.59425	D	0.04	.	6.6251	0.22824	0.8912:0.0:0.1088:0.0	.	252	P55899	FCGRN_HUMAN	S	252	ENSP00000221466:N252S;ENSP00000410798:N252S	ENSP00000221466:N252S	N	+	2	0	FCGRT	54719729	0.997000	0.39634	0.762000	0.31397	0.105000	0.19272	3.973000	0.56845	0.817000	0.34445	0.379000	0.24179	AAC		0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			14	349	0	0	0	1	0	14	349					G	50027917	A	G	50027917	3	3	79	1	0	0	0	0	1	0	0	0	5811	43	2	4	769	4	FCGRT	19	50027917	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26654	50027917	9101066	19532	29849											
RCN3	57333	broad.mit.edu	37	chr19	50045888	50045888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagttccgggacttccGggatctgaacaaggatgggc	15	10	1	1	rs543008006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50045888G>A	ENST00000270645.3	+	6	1205	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	253	EF-hand 5. {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)		CGGGACTTCCGGGATCTGAAC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		14454	0.001		0.0	False		,,,				2504	0.0					ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(757-759)cGg>cAg		reticulocalbin 3, EF-hand calcium binding domain							36	37	37					19																	50045888		2200	4300	6500	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50045888G>A	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.758G>A	19.37:g.50045888G>A	ENSP00000270645:p.Arg253Gln						p.R253Q	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	6	1205	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	253			EF-hand 5.		Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.758G>A	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588961	0.96590	.	.	ENSG00000142552	ENST00000270645	T	0.54479	0.57	5.16	5.16	0.70880	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.76876	-0.2797	10	0.30078	T	0.28	-30.9967	17.4697	0.87642	0.0:0.0:1.0:0.0	.	253	Q96D15	RCN3_HUMAN	Q	253	ENSP00000270645:R253Q	ENSP00000270645:R253Q	R	+	2	0	RCN3	54737700	1.000000	0.71417	0.977000	0.42913	0.794000	0.44872	9.121000	0.94375	2.421000	0.82119	0.650000	0.86243	CGG		0.682	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		5	60	0	0	0	1	0	5	60					A	50045888	G	A	50045888	3	1	79	1	0	0	0	0	1	0	0	0	13231	1116	39	1	776	1	RCN3	19	50045888	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17971	50045888	9083095	19533	29850											
NOSIP	51070	broad.mit.edu	37	chr19	50060162	50060162	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggtggccttggcttcGggcgtcagcgacgggatcca	16	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060162G>A	ENST00000596358.1	-	6	565	c.507C>T	c.(505-507)ccC>ccT	p.P169P	NOSIP_ENST00000339093.3_Silent_p.P172P|NOSIP_ENST00000391853.3_Silent_p.P169P	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	169					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCTTGGCTTCGGGCGTCAGCG	0.662																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(505-507)ccC>ccT		nitric oxide synthase interacting protein							30	31	30					19																	50060162		2203	4299	6502	SO:0001819	synonymous_variant	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50060162G>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.507C>T	19.37:g.50060162G>A						NOSIP_ENST00000596358.1_Silent_p.P169P|NOSIP_ENST00000339093.3_Silent_p.P172P	p.P169P	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	7	658	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	169					Q96FD2	Silent	SNP	ENST00000596358.1	37	c.507C>T	CCDS12772.1																																																																																				0.662	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			22	104	0	0	0	1	0	22	104					A	50060162	G	A	50060162	2	1	79	1	0	0	0	0	0	0	0	1	10587	1103	39	1		1	NOSIP	19	50060162	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14274	50060162	9068821	19534	29851											
NOSIP	51070	broad.mit.edu	37	chr19	50060441	50060441	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagccccgcacatggtcCtgcgaggccgcccgctgaag	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060441C>A	ENST00000596358.1	-	5	382	c.324G>T	c.(322-324)caG>caT	p.Q108H	NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H|NOSIP_ENST00000391853.3_Missense_Mutation_p.Q108H	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	108					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCACATGGTCCTGCGAGGCCG	0.677																																						ENST00000391853.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11						c.(322-324)caG>caT		nitric oxide synthase interacting protein							24	26	25					19																	50060441		2203	4299	6502	SO:0001583	missense	0				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding	g.chr19:50060441C>A	AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.324G>T	19.37:g.50060441C>A	ENSP00000470034:p.Gln108His					NOSIP_ENST00000596358.1_Missense_Mutation_p.Q108H|NOSIP_ENST00000339093.3_Missense_Mutation_p.Q108H	p.Q108H	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)	6	475	-		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	108					Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	c.324G>T	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602309	0.46423	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.77098	-1.07;-1.07	5.15	2.95	0.34219	.	0.386687	0.27214	N	0.020382	T	0.67429	0.2892	L	0.42744	1.35	0.46701	D	0.999163	B	0.17852	0.024	B	0.16722	0.016	T	0.61182	-0.7114	10	0.52906	T	0.07	-32.2216	7.2859	0.26340	0.1672:0.7453:0.0:0.0875	.	108	Q9Y314	NOSIP_HUMAN	H	108	ENSP00000343497:Q108H;ENSP00000375726:Q108H	ENSP00000343497:Q108H	Q	-	3	2	NOSIP	54752253	0.990000	0.36364	0.964000	0.40570	0.526000	0.34562	0.233000	0.17911	0.527000	0.28560	0.462000	0.41574	CAG		0.677	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1			21	67	1	0	2.21704e-12	1	2.37967e-12	21	67					A	50060441	C	A	50060441	3	1	79	1	0	0	0	0	1	0	0	0	10587	680	24	3	601	3	NOSIP	19	50060441	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	279	50060441	9068542	19535	29852											
PRR12	57479	broad.mit.edu	37	chr19	50098064	50098064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaacacccggcttccttcGgcagccgccccttcccagtg	8	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098064G>A	ENST00000418929.2	+	4	484	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCTTCCTTCGGCAGCCGCCC	0.667																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(472-474)Ggc>Agc		proline rich 12							21	26	24					19																	50098064		1997	4149	6146	SO:0001583	missense	57479						DNA binding	g.chr19:50098064G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.472G>A	19.37:g.50098064G>A	ENSP00000394510:p.Gly158Ser						p.G158S	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	484	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	571			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.472G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615774	0.28801	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.71	2.67	0.31697	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.24849	N	0.992416	B	0.24368	0.102	B	0.17098	0.017	T	0.31696	-0.9934	7	0.02654	T	1	.	5.27	0.15620	0.3422:0.0:0.6578:0.0	.	158	Q9ULL5-3	.	S	158	.	ENSP00000394510:G158S	G	+	1	0	PRR12	54789876	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.418000	0.34782	0.922000	0.37019	0.563000	0.77884	GGC		0.667	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		30	91	0	0	0	1	0	30	91					A	50098064	G	A	50098064	3	1	79	1	0	0	0	0	1	0	0	0	12631	1116	39	1	486	1	PRR12	19	50098064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37623	50098064	9030919	19536	29853											
PRR12	57479	broad.mit.edu	37	chr19	50098142	50098142	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctaacgggctcctgTcccctcatgacgtgctgcac	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098142T>C	ENST00000418929.2	+	4	562	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCTCCTGTCCCCTCATGA	0.682																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(550-552)Tcc>Ccc		proline rich 12							25	28	27					19																	50098142		1964	4142	6106	SO:0001583	missense	57479						DNA binding	g.chr19:50098142T>C	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.550T>C	19.37:g.50098142T>C	ENSP00000394510:p.Ser184Pro						p.S184P	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	562	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	596			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.550T>C	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908427	0.33721	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.77751	0.4177	.	.	.	0.36605	D	0.874868	D	0.76494	0.999	D	0.83275	0.996	D	0.83942	0.0312	7	0.72032	D	0.01	.	12.3339	0.55056	0.0:0.0:0.0:1.0	.	184	Q9ULL5-3	.	P	184	.	ENSP00000394510:S184P	S	+	1	0	PRR12	54789954	0.873000	0.30073	1.000000	0.80357	0.794000	0.44872	1.874000	0.39568	1.827000	0.53221	0.460000	0.39030	TCC		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		23	73	0	0	0	1	0	23	73					C	50098142	T	C	50098142	3	2	79	1	0	0	0	0	1	0	0	0	12631	1667	58	4	564	4	PRR12	19	50098142	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78	50098142	9030841	19537	29854											
PRR12	57479	broad.mit.edu	37	chr19	50099477	50099477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggagctgctggcgggcccaGgtgggcctcctgcggagcgc	19	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50099477G>T	ENST00000418929.2	+	4	1897	c.1885G>T	c.(1885-1887)Ggt>Tgt	p.G629C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCGGGCCCAGGTGGGCCTCC	0.682																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1885-1887)Ggt>Tgt		proline rich 12							14	20	18					19																	50099477		1966	4143	6109	SO:0001583	missense	57479						DNA binding	g.chr19:50099477G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1885G>T	19.37:g.50099477G>T	ENSP00000394510:p.Gly629Cys						p.G629C	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1897	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	393			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1885G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	3.307	-0.141698	0.06669	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.9	1.72	0.24424	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.09310	N	1	D	0.54964	0.969	P	0.50490	0.642	T	0.28170	-1.0052	7	0.66056	D	0.02	.	7.675	0.28480	0.2088:0.0:0.7912:0.0	.	629	Q9ULL5-3	.	C	629	.	ENSP00000394510:G629C	G	+	1	0	PRR12	54791289	0.095000	0.21747	0.096000	0.21009	0.741000	0.42261	0.801000	0.27055	0.439000	0.26476	0.289000	0.19496	GGT		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		33	163	1	0	2.49534e-26	1	2.87403e-26	33	163					T	50099477	G	T	50099477	3	4	79	1	0	0	0	0	1	0	0	0	12631	1000	35	3	1899	3	PRR12	19	50099477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1335	50099477	9029506	19538	29855											
SCAF1	58506	broad.mit.edu	37	chr19	50161056	50161056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggagcgggcggtggaGgaggtgaagctggccatcaa	19	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50161056G>A	ENST00000360565.3	+	10	3781	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E	IRF3_ENST00000599680.1_5'Flank	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1219	Necessary for interaction with the CTD domain of POLR2A.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCGGTGGAGGAGGTGAAGC	0.597																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3655-3657)gaG>gaA		SR-related CTD-associated factor 1							80	56	64					19																	50161056		2203	4300	6503	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50161056G>A	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3657G>A	19.37:g.50161056G>A							p.E1219E	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	10	3781	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1219			Necessary for interaction with the CTD domain of POLR2A.		Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.3657G>A	CCDS33074.1																																																																																				0.597	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		10	65	0	0	0	1	0	10	65					A	50161056	G	A	50161056	2	1	79	1	0	0	0	0	0	0	0	1	13918	991	35	2		2	SCAF1	19	50161056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61579	50161056	8967927	19539	29856											
IRF3	3661	broad.mit.edu	37	chr19	50166680	50166680	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaaacgcaacccttctttgCggttgagggcagagcggaaa	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50166680C>T	ENST00000597198.1	-	3	638	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IRF3_ENST00000598808.1_5'UTR|BCL2L12_ENST00000246785.3_5'Flank|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000599680.1_5'Flank|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000596765.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	86					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)		CCCTTCTTTGCGGTTGAGGGC	0.577																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(256-258)cGc>cAc		interferon regulatory factor 3							67	60	63					19																	50166680		2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50166680C>T		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.257G>A	19.37:g.50166680C>T	ENSP00000469113:p.Arg86His					IRF3_ENST00000377139.3_Missense_Mutation_p.R86H|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.R86H|IRF3_ENST00000599223.1_Missense_Mutation_p.R86H|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000600911.1_Missense_Mutation_p.R86H|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000601291.1_Missense_Mutation_p.R86H|IRF3_ENST00000442265.2_Intron|IRF3_ENST00000377135.4_Missense_Mutation_p.R86H|IRF3_ENST00000600022.1_5'UTR	p.R86H			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	3	638	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	86					A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.257G>A	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017058	0.54576	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.97811	-4.55;-4.55;-4.55	4.92	4.92	0.64577	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.255793	0.32785	N	0.005658	D	0.98267	0.9426	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.997;0.973;0.999	D;P;P;P;D	0.68621	0.955;0.82;0.82;0.537;0.959	D	0.99157	1.0860	10	0.72032	D	0.01	-24.1366	15.961	0.79930	0.0:1.0:0.0:0.0	.	86;86;86;86;86	B2RAZ3;Q96GL3;Q7Z5G6;Q14653;Q5FBY1	.;.;.;IRF3_HUMAN;.	H	86	ENSP00000366344:R86H;ENSP00000310127:R86H;ENSP00000366339:R86H	ENSP00000310127:R86H	R	-	2	0	IRF3	54858492	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.047000	0.49854	2.451000	0.82905	0.655000	0.94253	CGC		0.577	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		52	217	0	0	0	1	0	52	217					T	50166680	C	T	50166680	3	4	79	1	0	0	0	0	1	0	0	0	7861	768	27	1	1050	1	IRF3	19	50166680	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5624	50166680	8962303	19540	29857											
CPT1C	126129	broad.mit.edu	37	chr19	50203964	50203964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacaacaccacgggctccGgggggtcctggcagccgcgc	16	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50203964G>A	ENST00000392518.4	+	5	677	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	102					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)		CACGGGCTCCGGGGGGTCCTG	0.672																																						ENST00000392518.4																			0				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						c.(304-306)cGg>cAg		carnitine palmitoyltransferase 1C							84	82	82					19																	50203964		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50203964G>A	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.305G>A	19.37:g.50203964G>A	ENSP00000376303:p.Arg102Gln					CPT1C_ENST00000323446.5_Missense_Mutation_p.R102Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.R102Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.R102Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.R102Q	p.R102Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	5	677	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	102					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.305G>A	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	1.148	-0.647378	0.03506	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.47	-0.363	0.12556	.	0.620826	0.13466	N	0.385764	T	0.37705	0.1013	N	0.02142	-0.665	0.22185	N	0.999302	B;B;B	0.14012	0.009;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.001	T	0.31558	-0.9939	10	0.08381	T	0.77	-23.8765	3.325	0.07063	0.377:0.2079:0.415:0.0	.	102;102;102	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	Q	102	ENSP00000376303:R102Q;ENSP00000346138:R102Q;ENSP00000384465:R102Q;ENSP00000319343:R102Q	ENSP00000319343:R102Q	R	+	2	0	CPT1C	54895776	0.154000	0.22792	0.936000	0.37596	0.025000	0.11179	0.712000	0.25779	0.142000	0.18901	-0.749000	0.03505	CGG		0.672	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		76	697	0	0	0	1	0	76	697					A	50203964	G	A	50203964	3	1	79	1	0	0	0	0	1	0	0	0	3842	1116	39	1	315	1	CPT1C	19	50203964	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37284	50203964	8925019	19541	29858											
CPT1C	126129	broad.mit.edu	37	chr19	50216321	50216321	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaatcaagcacaaaaacGgtgagacaaacgtgtatacc	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	ENST00000392518.4	+	19	2598	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	CPT1C_ENST00000354199.5_Splice_Site_p.T653T|CPT1C_ENST00000405931.2_Splice_Site_p.T731T|CPT1C_ENST00000598293.1_Splice_Site_p.T742T|CPT1C_ENST00000323446.5_Splice_Site_p.T742T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	742					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)		GCACAAAAACGGTGAGACAAA	0.527																																						ENST00000392518.4																			0				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						c.e19+1		carnitine palmitoyltransferase 1C							178	150	159					19																	50216321		2203	4300	6503	SO:0001630	splice_region_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50216321G>A	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.2226+1G>A	19.37:g.50216321G>A						CPT1C_ENST00000323446.5_Splice_Site_p.T742_splice|CPT1C_ENST00000598293.1_Splice_Site_p.T742_splice|CPT1C_ENST00000405931.2_Splice_Site_p.T731_splice|CPT1C_ENST00000354199.5_Splice_Site_p.T653_splice	p.T742_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	19	2598	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	742					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	37	c.2226_splice	CCDS12779.1																																																																																				0.527	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	Silent	169	677	0	0	0	1	0	169	677					A	50216321	G	A	50216321	5	1	79	1	0	0	0	0	0	0	1	0	3842	1130	39	1	2292	1	CPT1C	19	50216321	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12357	50216321	8912662	19542	29859											
TSKS	60385	broad.mit.edu	37	chr19	50243181	50243181	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggtccagagtggccAtcttctccctgtcatgaggc	12	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50243181A>G	ENST00000246801.3	-	11	1713	c.1631T>C	c.(1630-1632)aTg>aCg	p.M544T	TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	544					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAGAGTGGCCATCTTCTCCCT	0.592																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1630-1632)aTg>aCg		testis-specific serine kinase substrate							93	85	88					19																	50243181		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243181A>G	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.1631T>C	19.37:g.50243181A>G	ENSP00000246801:p.Met544Thr					TSKS_ENST00000358830.3_Missense_Mutation_p.M344T	p.M544T	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1713	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	544					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1631T>C	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	A	2.835	-0.241732	0.05906	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.27890	1.64;1.64	5.44	2.23	0.28157	.	0.857574	0.09841	N	0.748920	T	0.14270	0.0345	N	0.08118	0	0.23204	N	0.998125	B	0.11235	0.004	B	0.11329	0.006	T	0.32079	-0.9920	10	0.28530	T	0.3	-9.4709	4.2281	0.10590	0.6446:0.1749:0.1805:0.0	.	544	Q9UJT2	TSKS_HUMAN	T	544;344	ENSP00000246801:M544T;ENSP00000351691:M344T	ENSP00000246801:M544T	M	-	2	0	TSKS	54934993	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	0.878000	0.28126	0.070000	0.16634	0.496000	0.49642	ATG		0.592	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		69	411	0	0	0	1	0	69	411					G	50243181	A	G	50243181	3	3	79	1	0	0	0	0	1	0	0	0	16679	217	8	4	151	4	TSKS	19	50243181	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26860	50243181	8885802	19543	29860											
TSKS	60385	broad.mit.edu	37	chr19	50249836	50249836	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcggggaccaggccgtgtgGccgcgagggtttgtcgggac	20	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50249836G>A	ENST00000246801.3	-	6	965	c.883C>T	c.(883-885)Cca>Tca	p.P295S	TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	295					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCGTGTGGCCGCGAGGGT	0.721																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(883-885)Cca>Tca		testis-specific serine kinase substrate							21	24	23					19																	50249836		2197	4291	6488	SO:0001583	missense	60385						protein binding	g.chr19:50249836G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.883C>T	19.37:g.50249836G>A	ENSP00000246801:p.Pro295Ser					TSKS_ENST00000358830.3_Missense_Mutation_p.P95S	p.P295S	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	6	965	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	295					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.883C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	9.932	1.215193	0.22373	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.33865	1.39;1.39	4.87	1.49	0.22878	.	1.157390	0.06486	N	0.733790	T	0.20780	0.0500	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.25916	-1.0118	10	0.05833	T	0.94	-6.5428	4.5318	0.12008	0.1991:0.1842:0.6167:0.0	.	295	Q9UJT2	TSKS_HUMAN	S	295;95	ENSP00000246801:P295S;ENSP00000351691:P95S	ENSP00000246801:P295S	P	-	1	0	TSKS	54941648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.592000	0.23984	0.228000	0.21019	-0.136000	0.14681	CCA		0.721	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		66	282	0	0	0	1	0	66	282					A	50249836	G	A	50249836	3	1	79	1	0	0	0	0	1	0	0	0	16679	1203	42	2	919	2	TSKS	19	50249836	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6655	50249836	8879147	19544	29861											
FUZ	80199	broad.mit.edu	37	chr19	50314697	50314697	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgagctccgagtcccccaGgaagctgtcgatgaggcaat	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50314697G>T	ENST00000313777.4	-	5	578	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	FUZ_ENST00000445575.2_Missense_Mutation_p.L139M|FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000526575.1_3'UTR|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	139					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GAGTCCCCCAGGAAGCTGTCG	0.582																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(415-417)Ctg>Atg		fuzzy planar cell polarity protein							62	55	58					19																	50314697		2203	4300	6503	SO:0001583	missense	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50314697G>T	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.415C>A	19.37:g.50314697G>T	ENSP00000313309:p.Leu139Met					FUZ_ENST00000533418.1_Missense_Mutation_p.L89M|FUZ_ENST00000528094.1_Missense_Mutation_p.L103M|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000445575.2_Missense_Mutation_p.L139M	p.L139M	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	5	578	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	139					B2RD86|B5MDH0|Q6PJY0|Q9H613	Missense_Mutation	SNP	ENST00000313777.4	37	c.415C>A	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416090	0.62511	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.21	4.21	0.49690	.	0.296424	0.27345	N	0.019797	T	0.61110	0.2321	L	0.31926	0.97	0.44155	D	0.996958	D;D;D	0.89917	0.999;1.0;0.984	D;D;D	0.91635	0.998;0.999;0.926	T	0.63301	-0.6668	10	0.54805	T	0.06	-11.0072	13.5847	0.61924	0.0:0.0:1.0:0.0	.	139;103;139	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	M	103;89;139;139;39;139;89;139	ENSP00000435177:L103M;ENSP00000431731:L89M;ENSP00000313309:L139M;ENSP00000408018:L139M	ENSP00000313309:L139M	L	-	1	2	FUZ	55006509	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.832000	0.62759	2.171000	0.68590	0.462000	0.41574	CTG		0.582	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		9	232	1	0	0.000274275	1	0.000278163	9	232					T	50314697	G	T	50314697	3	4	79	1	0	0	0	0	1	0	0	0	6139	991	35	3	869	3	FUZ	19	50314697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64861	50314697	8814286	19545	29862											
MED25	81857	broad.mit.edu	37	chr19	50321657	50321657	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggccgacgtggtgtTtgtgattgagggtacggcca	18	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50321657T>A	ENST00000312865.6	+	1	112	c.59T>A	c.(58-60)tTt>tAt	p.F20Y	MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	20	Interaction with the Mediator complex.			F -> S (in Ref. 1; AAM20739). {ECO:0000305}.	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)		GACGTGGTGTTTGTGATTGAG	0.682																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				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						c.(58-60)tTt>tAt		mediator complex subunit 25							47	44	45					19																	50321657		2203	4300	6503	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50321657T>A	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.59T>A	19.37:g.50321657T>A	ENSP00000326767:p.Phe20Tyr					MED25_ENST00000538643.1_Missense_Mutation_p.F20Y	p.F20Y	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	1	112	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	20	F -> S (in Ref. 1; AAM20739).		Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.59T>A	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	T	31	5.063493	0.93898	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000542221;ENST00000544580	T;T	0.81163	1.83;-1.46	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	M	0.67397	2.05	0.23813	N	0.996771	D;D	0.58268	0.982;0.982	P;P	0.57846	0.828;0.828	T	0.78861	-0.2037	10	0.72032	D	0.01	.	12.039	0.53442	0.0:0.0:0.0:1.0	.	20;20	B9TX30;Q71SY5	.;MED25_HUMAN	Y	20	ENSP00000326767:F20Y;ENSP00000437496:F20Y	ENSP00000326767:F20Y	F	+	2	0	MED25	55013469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.474000	0.60203	2.091000	0.63221	0.533000	0.62120	TTT		0.682	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		34	179	0	0	0	1	0	34	179					A	50321657	T	A	50321657	3	1	79	1	0	0	0	0	1	0	0	0	9484	1841	64	5	61	5	MED25	19	50321657	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6960	50321657	8807326	19546	29863											
PTOV1	53635	broad.mit.edu	37	chr19	50357694	50357694	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcggggcactgggtcCcatcggtccctcctcacctg	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50357694C>A	ENST00000601675.1	+	2	307	c.203C>A	c.(202-204)cCc>cAc	p.P68H	PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000391842.1_Missense_Mutation_p.P68H|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000598325.1_3'UTR|PTOV1-AS1_ENST00000596521.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	68					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCACTGGGTCCCATCGGTCCC	0.667																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(202-204)cCc>cAc		prostate tumor overexpressed 1							94	105	101					19																	50357694		2203	4300	6503	SO:0001583	missense	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50357694C>A	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.203C>A	19.37:g.50357694C>A	ENSP00000472816:p.Pro68His					AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000221557.9_Missense_Mutation_p.P36H|PTOV1_ENST00000601675.1_Missense_Mutation_p.P68H|PTOV1_ENST00000599732.1_Missense_Mutation_p.P68H|PTOV1_ENST00000600603.1_Missense_Mutation_p.P36H|PTOV1_ENST00000601638.1_Missense_Mutation_p.P36H|PTOV1_ENST00000598325.1_3'UTR	p.P68H	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	2	373	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	68					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	c.203C>A	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403721	0.62288	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.92	3.92	0.45320	.	0.184196	0.34002	U	0.004353	T	0.50205	0.1602	N	0.19112	0.55	0.33612	D	0.603735	D;D;D	0.76494	0.999;0.994;0.994	P;P;D	0.69479	0.907;0.897;0.964	T	0.62909	-0.6754	9	0.87932	D	0	-35.9482	11.7343	0.51757	0.0:1.0:0.0:0.0	.	36;68;36	B4DG17;Q86YD1;Q86YD1-2	.;PTOV1_HUMAN;.	H	36;68	.	ENSP00000221557:P36H	P	+	2	0	PTOV1	55049506	0.820000	0.29190	1.000000	0.80357	0.914000	0.54420	2.292000	0.43549	2.476000	0.83614	0.563000	0.77884	CCC		0.667	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		34	1031	1	0	2.70662e-09	1	2.84656e-09	34	1031					A	50357694	C	A	50357694	3	1	79	1	0	0	0	0	1	0	0	0	12817	623	22	3	209	3	PTOV1	19	50357694	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36037	50357694	8771289	19547	29864											
PTOV1	53635	broad.mit.edu	37	chr19	50358292	50358292	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttcaccaacagagactgCgactcgctcaaggggctctg	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50358292C>T	ENST00000601675.1	+	5	620	c.516C>T	c.(514-516)tgC>tgT	p.C172C	PTOV1_ENST00000600603.1_Silent_p.C140C|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Silent_p.C140C|MIR4749_ENST00000578197.1_RNA|PTOV1_ENST00000221557.9_Silent_p.C140C|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000391842.1_Silent_p.C172C|PTOV1_ENST00000599732.1_Silent_p.C172C|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACAGAGACTGCGACTCGCTCA	0.637																																						ENST00000391842.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(514-516)tgC>tgT		prostate tumor overexpressed 1							41	35	37					19																	50358292		2202	4300	6502	SO:0001819	synonymous_variant	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50358292C>T	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.516C>T	19.37:g.50358292C>T						PTOV1_ENST00000221557.9_Silent_p.C140C|PTOV1_ENST00000601675.1_Silent_p.C172C|PTOV1_ENST00000599732.1_Silent_p.C172C|PTOV1_ENST00000600603.1_Silent_p.C140C|PTOV1_ENST00000601638.1_Silent_p.C140C|PTOV1_ENST00000598325.1_3'UTR	p.C172C	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	5	686	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	172					Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Silent	SNP	ENST00000601675.1	37	c.516C>T	CCDS12782.1																																																																																				0.637	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432		8	40	0	0	0	1	0	8	40					T	50358292	C	T	50358292	2	4	79	1	0	0	0	0	0	0	0	1	12817	776	27	1		1	PTOV1	19	50358292	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	50358292	8770691	19548	29865											
TBC1D17	79735	broad.mit.edu	37	chr19	50386980	50386980	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcggagaaactcacttctGcatggataccgcagcctcat	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50386980G>A	ENST00000221543.5	+	10	1403	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	TBC1D17_ENST00000535102.2_Silent_p.L335L	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	368	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACTCACTTCTGCATGGATACC	0.557																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1102-1104)ctG>ctA		TBC1 domain family, member 17							127	100	110					19																	50386980		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50386980G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1104G>A	19.37:g.50386980G>A						TBC1D17_ENST00000535102.2_Silent_p.L335L	p.L368L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	10	1403	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	368			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.1104G>A	CCDS12785.1																																																																																				0.557	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		8	260	0	0	0	1	0	8	260					A	50386980	G	A	50386980	2	1	79	1	0	0	0	0	0	0	0	1	15658	1306	46	2		2	TBC1D17	19	50386980	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28688	50386980	8742003	19549	29866											
TBC1D17	79735	broad.mit.edu	37	chr19	50387800	50387800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctttctggtgtttctgtgGcttcatggagctcgtggtga	14	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50387800G>A	ENST00000221543.5	+	12	1627	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D	TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	443	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTTTCTGTGGCTTCATGGAG	0.592																																						ENST00000221543.5																			0				NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1327-1329)gGc>gAc		TBC1 domain family, member 17							161	163	162					19																	50387800		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387800G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1328G>A	19.37:g.50387800G>A	ENSP00000221543:p.Gly443Asp					TBC1D17_ENST00000535102.2_Missense_Mutation_p.G410D	p.G443D	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	12	1627	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	443			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1328G>A	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061458	0.93846	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11169	2.8;2.8	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.79108	0.979;0.992	T	0.30149	-0.9988	10	0.59425	D	0.04	-41.3911	16.2481	0.82460	0.0:0.0:1.0:0.0	.	410;443	F5H1W7;Q9HA65	.;TBC17_HUMAN	D	443;410	ENSP00000221543:G443D;ENSP00000446323:G410D	ENSP00000221543:G443D	G	+	2	0	TBC1D17	55079612	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.017000	0.57167	2.424000	0.82194	0.561000	0.74099	GGC		0.592	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682		25	582	0	0	0	1	0	25	582					A	50387800	G	A	50387800	3	1	79	1	0	0	0	0	1	0	0	0	15658	1203	42	2	1374	2	TBC1D17	19	50387800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	820	50387800	8741183	19550	29867											
IL4I1	259307	broad.mit.edu	37	chr19	50393095	50393095	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcggggctggccgtgtcCgatgcaggccccttccggct	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50393095C>T	ENST00000391826.2	-	8	1678	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	IL4I1_ENST00000341114.3_Silent_p.S534S|IL4I1_ENST00000595948.1_Silent_p.S534S|MIR4750_ENST00000584564.1_RNA	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	512						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	TGGCCGTGTCCGATGCAGGCC	0.692																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1600-1602)tcG>tcA		interleukin 4 induced 1							45	44	44					19																	50393095		2202	4299	6501	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393095C>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1536G>A	19.37:g.50393095C>T						IL4I1_ENST00000391826.2_Silent_p.S512S|IL4I1_ENST00000341114.3_Silent_p.S534S	p.S534S	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2222	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	512					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.1602G>A	CCDS12787.1																																																																																				0.692	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			50	225	0	0	0	1	0	50	225					T	50393095	C	T	50393095	2	4	79	1	0	0	0	0	0	0	0	1	7727	639	23	1		1	IL4I1	19	50393095	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5295	50393095	8735888	19551	29868											
NUP62	23636	broad.mit.edu	37	chr19	50412726	50412726	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgcccagcccaaaGccgctggggtttgccatggc	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50412726G>T	ENST00000596217.1	-	2	2226	c.339C>A	c.(337-339)ggC>ggA	p.G113G	IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000413454.1_Silent_p.G113G|NUP62_ENST00000422090.2_Silent_p.G113G|NUP62_ENST00000352066.3_Silent_p.G113G|NUP62_ENST00000597723.1_Silent_p.G113G|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597029.1_Silent_p.G113G			P37198	NUP62_HUMAN	nucleoporin 62kDa	113	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGCCCAAAGCCGCTGGGGT	0.592																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(337-339)ggC>ggA		nucleoporin 62kDa							73	77	76					19																	50412726		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412726G>T	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.339C>A	19.37:g.50412726G>T						NUP62_ENST00000422090.2_Silent_p.G113G|NUP62_ENST00000352066.3_Silent_p.G113G|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000413454.1_Silent_p.G113G|NUP62_ENST00000597723.1_Silent_p.G113G|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Silent_p.G113G	p.G113G			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2226	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	113			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.339C>A	CCDS12788.1																																																																																				0.592	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		108	497	1	0	1.97301e-41	1	2.39674e-41	108	497					T	50412726	G	T	50412726	2	4	79	1	0	0	0	0	0	0	0	1	10810	958	34	3		3	NUP62	19	50412726	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19631	50412726	8716257	19552	29869											
ZNF473	25888	broad.mit.edu	37	chr19	50548036	50548036	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcttctggaactccaatttCggagaagcctgtatagagga	12	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548036C>T	ENST00000595661.1	+	6	831	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.F112F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000270617.3_Silent_p.F112F			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	112					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473																																						ENST00000595661.1																			0				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						c.(334-336)ttC>ttT		zinc finger protein 473							64	64	64					19																	50548036		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548036C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.336C>T	19.37:g.50548036C>T						CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.F100F|ZNF473_ENST00000270617.3_Silent_p.F112F|ZNF473_ENST00000391821.2_Silent_p.F112F	p.F112F			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	831	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	112					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.336C>T	CCDS33077.1																																																																																				0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		71	257	0	0	0	1	0	71	257					T	50548036	C	T	50548036	2	4	79	1	0	0	0	0	0	0	0	1	17984	883	31	1		1	ZNF473	19	50548036	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135310	50548036	8580947	19553	29870											
ZNF473	25888	broad.mit.edu	37	chr19	50548627	50548627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgacacacagcctggtgaGcatcagaaaactcacacaga	8	12	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548627G>A	ENST00000595661.1	+	6	1422	c.927G>A	c.(925-927)gaG>gaA	p.E309E	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.E309E|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000270617.3_Silent_p.E309E			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	309			E -> G (in dbSNP:rs16981706).		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)		AGCCTGGTGAGCATCAGAAAA	0.473																																						ENST00000595661.1																			0				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						c.(925-927)gaG>gaA		zinc finger protein 473							95	95	95					19																	50548627		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548627G>A	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.927G>A	19.37:g.50548627G>A						CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.E297E|ZNF473_ENST00000270617.3_Silent_p.E309E|ZNF473_ENST00000391821.2_Silent_p.E309E	p.E309E			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1422	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	309		E -> G (in dbSNP:rs16981706).			A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.927G>A	CCDS33077.1																																																																																				0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		105	467	0	0	0	1	0	105	467					A	50548627	G	A	50548627	2	1	79	1	0	0	0	0	0	0	0	1	17984	962	34	2		2	ZNF473	19	50548627	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	591	50548627	8580356	19554	29871											
ZNF473	25888	broad.mit.edu	37	chr19	50549780	50549780	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actaccttgttcagcatgagCgaactcatgccagaaagaag	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549780C>T	ENST00000595661.1	+	6	2575	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	694					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R694*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCATGAGCGAACTCATGC	0.453																																						ENST00000595661.1																			1	Substitution - Nonsense(1)	p.R694*(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2080-2082)Cga>Tga		zinc finger protein 473							78	81	80					19																	50549780		2203	4300	6503	SO:0001587	stop_gained	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549780C>T	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.2080C>T	19.37:g.50549780C>T	ENSP00000472808:p.Arg694*					CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.R682*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.R694*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.R694*	p.R694*			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2575	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	694					A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	ENST00000595661.1	37	c.2080C>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	36	5.831686	0.97003	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.21	0.966	0.19667	.	0.679345	0.12907	N	0.429279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.416	4.1994	0.10458	0.6041:0.1829:0.213:0.0	.	.	.	.	X	694;694;682	.	ENSP00000270617:R694X	R	+	1	2	ZNF473	55241592	0.000000	0.05858	0.140000	0.22221	0.027000	0.11550	-0.447000	0.06828	0.111000	0.17947	-0.347000	0.07816	CGA		0.453	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		62	330	0	0	0	1	0	62	330					T	50549780	C	T	50549780	4	4	79	1	0	0	0	0	0	1	0	0	17984	760	27	1	2094	1	ZNF473	19	50549780	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1153	50549780	8579203	19555	29872											
ZNF473	25888	broad.mit.edu	37	chr19	50549918	50549918	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attactgcgggaaggccttcGgcctgagtgctgagcttgtc	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549918G>A	ENST00000595661.1	+	6	2713	c.2218G>A	c.(2218-2220)Ggc>Agc	p.G740S	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	740					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)		GAAGGCCTTCGGCCTGAGTGC	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000595661.1																			0				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						c.(2218-2220)Ggc>Agc		zinc finger protein 473							77	81	79					19																	50549918		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549918G>A	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.2218G>A	19.37:g.50549918G>A	ENSP00000472808:p.Gly740Ser		OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	970	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G728S|ZNF473_ENST00000270617.3_Missense_Mutation_p.G740S|ZNF473_ENST00000391821.2_Missense_Mutation_p.G740S	p.G740S			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2713	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	740					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.2218G>A	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051748	0.01981	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.07114	3.22;3.22;3.22	4.17	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.670270	0.13095	N	0.414241	T	0.01800	0.0057	N	0.01122	-1.005	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.44174	-0.9345	10	0.02654	T	1	-0.0068	5.1114	0.14811	0.3631:0.0:0.475:0.1619	.	740	Q8WTR7	ZN473_HUMAN	S	740;740;728	ENSP00000270617:G740S;ENSP00000375697:G740S;ENSP00000388961:G728S	ENSP00000270617:G740S	G	+	1	0	ZNF473	55241730	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.786000	0.04623	-0.277000	0.09193	-0.312000	0.09012	GGC		0.512	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		71	311	0	0	0	1	0	71	311					A	50549918	G	A	50549918	3	1	79	1	0	0	0	0	1	0	0	0	17984	1116	39	1	2232	1	ZNF473	19	50549918	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138	50549918	8579065	19556	29873											
MYH14	79784	broad.mit.edu	37	chr19	50726596	50726596	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaaagggcaggaaggagcCgggtgtccccgtaagcaacc	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50726596C>A	ENST00000596571.1	+	4	683	c.683C>A	c.(682-684)cCg>cAg	p.P228Q	MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000440075.2_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	228	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAAGGAGCCGGGTGTCCCC	0.627																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(682-684)cCg>cAg		myosin, heavy chain 14, non-muscle							36	42	40					19																	50726596		2128	4260	6388	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50726596C>A	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.683C>A	19.37:g.50726596C>A	ENSP00000472819:p.Pro228Gln					MYH14_ENST00000376970.2_Missense_Mutation_p.P228Q|MYH14_ENST00000425460.1_Missense_Mutation_p.P228Q|MYH14_ENST00000262269.8_Missense_Mutation_p.P228Q|MYH14_ENST00000596571.1_Missense_Mutation_p.P228Q|MYH14_ENST00000598205.1_Missense_Mutation_p.P228Q|MYH14_ENST00000601313.1_Missense_Mutation_p.P228Q	p.P228Q			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	5	730	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	228			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.683C>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.122598	0.01785	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.71341	-0.56;-0.55;-0.56;-0.56	4.49	3.38	0.38709	Myosin head, motor domain (2);	.	.	.	.	T	0.56171	0.1967	N	0.20530	0.585	0.38806	D	0.9553	P;B;B	0.48230	0.907;0.082;0.004	P;B;B	0.46850	0.529;0.199;0.019	T	0.49899	-0.8890	9	0.15952	T	0.53	.	9.4335	0.38624	0.31:0.69:0.0:0.0	.	228;228;228	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	228	ENSP00000406273:P228Q;ENSP00000366169:P228Q;ENSP00000407879:P228Q;ENSP00000262269:P228Q	ENSP00000262269:P228Q	P	+	2	0	MYH14	55418408	0.978000	0.34361	0.950000	0.38849	0.176000	0.22953	3.532000	0.53553	2.508000	0.84585	0.579000	0.79373	CCG		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		12	35	1	0	3.07112e-06	1	3.16074e-06	12	35					A	50726596	C	A	50726596	3	1	79	1	0	0	0	0	1	0	0	0	10074	652	23	3	697	3	MYH14	19	50726596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176678	50726596	8402387	19557	29874											
MYH14	79784	broad.mit.edu	37	chr19	50792804	50792804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccgaggatgccaagctgCgtctggaggtgactgtgcag	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50792804C>T	ENST00000596571.1	+	32	4741	c.4741C>T	c.(4741-4743)Cgt>Tgt	p.R1581C	MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000440075.2_Missense_Mutation_p.R1622C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1581					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)		TGCCAAGCTGCGTCTGGAGGT	0.617																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(4864-4866)Cgt>Tgt		myosin, heavy chain 14, non-muscle							46	55	52					19																	50792804		2194	4292	6486	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50792804C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4741C>T	19.37:g.50792804C>T	ENSP00000472819:p.Arg1581Cys					MYH14_ENST00000376970.2_Missense_Mutation_p.R1614C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1589C|MYH14_ENST00000262269.8_Missense_Mutation_p.R1622C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1581C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1589C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1622C	p.R1622C			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	35	4911	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1581					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4864C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565019	0.86439	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.92756	0.7697	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.93907	0.7193	9	0.87932	D	0	.	14.5171	0.67826	0.0:1.0:0.0:0.0	.	1622;1581;1589	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	1622;1614;1589;1365;1622	ENSP00000406273:R1622C;ENSP00000366169:R1614C;ENSP00000407879:R1589C;ENSP00000262269:R1622C	ENSP00000262269:R1622C	R	+	1	0	MYH14	55484616	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.523000	0.60545	2.371000	0.80710	0.491000	0.48974	CGT		0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		16	100	0	0	0	1	0	16	100					T	50792804	C	T	50792804	3	4	79	1	0	0	0	0	1	0	0	0	10074	768	27	1	4998	1	MYH14	19	50792804	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	66208	50792804	8336179	19558	29875											
MYH14	79784	broad.mit.edu	37	chr19	50796920	50796920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aactcggagctgctcaatgaCcgctaccgcaagctgctcct	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50796920C>T	ENST00000596571.1	+	36	5322	c.5322C>T	c.(5320-5322)gaC>gaT	p.D1774D	MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000440075.2_Silent_p.D1815D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000601313.1_Silent_p.D1815D|MYH14_ENST00000598205.1_Silent_p.D1782D			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1774					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)		TGCTCAATGACCGCTACCGCA	0.612																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5443-5445)gaC>gaT		myosin, heavy chain 14, non-muscle							50	51	51					19																	50796920		2192	4294	6486	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50796920C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5322C>T	19.37:g.50796920C>T						MYH14_ENST00000376970.2_Silent_p.D1807D|MYH14_ENST00000425460.1_Silent_p.D1782D|MYH14_ENST00000262269.8_Silent_p.D1815D|MYH14_ENST00000596571.1_Silent_p.D1774D|MYH14_ENST00000598205.1_Silent_p.D1782D|MYH14_ENST00000601313.1_Silent_p.D1815D	p.D1815D			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	39	5492	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1774					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.5445C>T	CCDS59411.1																																																																																				0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		48	163	0	0	0	1	0	48	163					T	50796920	C	T	50796920	2	4	79	1	0	0	0	0	0	0	0	1	10074	506	18	2		2	MYH14	19	50796920	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4116	50796920	8332063	19559	29876											
MYH14	79784	broad.mit.edu	37	chr19	50804952	50804952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagagctgtcagctgagcGcagtttctcagccaaggcag	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50804952G>A	ENST00000596571.1	+	37	5381	c.5381G>A	c.(5380-5382)cGc>cAc	p.R1794H	MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000440075.2_Missense_Mutation_p.R1835H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1794					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)		TCAGCTGAGCGCAGTTTCTCA	0.612																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5503-5505)cGc>cAc		myosin, heavy chain 14, non-muscle							40	45	44					19																	50804952		2062	4227	6289	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50804952G>A	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.5381G>A	19.37:g.50804952G>A	ENSP00000472819:p.Arg1794His					MYH14_ENST00000376970.2_Missense_Mutation_p.R1827H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1802H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1835H|MYH14_ENST00000596571.1_Missense_Mutation_p.R1794H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1802H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1835H	p.R1835H			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	40	5551	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1794					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5504G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888252	0.91814	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	4.08	4.08	0.47627	Myosin tail (1);	.	.	.	.	D	0.89570	0.6753	M	0.82630	2.6	0.47905	D	0.999542	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91176	0.4972	9	0.87932	D	0	.	14.1423	0.65327	0.0:0.0:1.0:0.0	.	1835;1794;1802	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1835;1827;1802;1578;1835	ENSP00000406273:R1835H;ENSP00000366169:R1827H;ENSP00000407879:R1802H;ENSP00000262269:R1835H	ENSP00000262269:R1835H	R	+	2	0	MYH14	55496764	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.594000	0.82698	2.274000	0.75844	0.591000	0.81541	CGC		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		45	242	0	0	0	1	0	45	242					A	50804952	G	A	50804952	3	1	79	1	0	0	0	0	1	0	0	0	10074	1087	38	1	5658	1	MYH14	19	50804952	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8032	50804952	8324031	19560	29877											
NAPSA	9476	broad.mit.edu	37	chr19	50862018	50862018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaccggacaagcagaggCggacgccatttcgagtagtc	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50862018C>T	ENST00000253719.2	-	9	1263	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	352					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)		CAAGCAGAGGCGGACGCCATT	0.632																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(1054-1056)cGc>cAc		napsin A aspartic peptidase							23	24	24					19																	50862018		2201	4298	6499	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862018C>T	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.1055G>A	19.37:g.50862018C>T	ENSP00000253719:p.Arg352His					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.R352H	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1263	-		all_neural(266;0.057)	352					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1055G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610610	0.46527	.	.	ENSG00000131400	ENST00000253719	T	0.57907	0.37	3.24	2.11	0.27256	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	1.265940	0.04994	N	0.467899	T	0.52565	0.1742	L	0.35341	1.055	0.09310	N	1	P	0.52842	0.956	P	0.49597	0.616	T	0.47420	-0.9119	10	0.72032	D	0.01	.	9.4839	0.38917	0.0:0.5772:0.4228:0.0	.	352	O96009	NAPSA_HUMAN	H	352	ENSP00000253719:R352H	ENSP00000253719:R352H	R	-	2	0	NAPSA	55553830	0.000000	0.05858	0.556000	0.28293	0.409000	0.31022	-0.308000	0.08156	0.569000	0.29329	0.313000	0.20887	CGC		0.632	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		35	115	0	0	0	1	0	35	115					T	50862018	C	T	50862018	3	4	79	1	0	0	0	0	1	0	0	0	10207	768	27	1	211	1	NAPSA	19	50862018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57066	50862018	8266965	19561	29878											
NR1H2	7376	broad.mit.edu	37	chr19	50881936	50881936	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggcaggcagccagggCtccggggaaggcgagggtgt	20	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881936C>T	ENST00000253727.5	+	6	865	c.630C>T	c.(628-630)ggC>ggT	p.G210G	NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000593926.1_Silent_p.G210G|NR1H2_ENST00000411902.2_Silent_p.G113G|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	210					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)		GCAGCCAGGGCTCCGGGGAAG	0.642																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(628-630)ggC>ggT		nuclear receptor subfamily 1, group H, member 2							34	43	40					19																	50881936		2108	4248	6356	SO:0001819	synonymous_variant	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50881936C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.630C>T	19.37:g.50881936C>T						NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.G210G|NR1H2_ENST00000593926.1_Silent_p.G210G|NR1H2_ENST00000599105.1_Silent_p.G210G|NR1H2_ENST00000411902.2_Silent_p.G113G	p.G210G	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	6	865	+		all_neural(266;0.057)	210					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	ENST00000253727.5	37	c.630C>T	CCDS42593.1																																																																																				0.642	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			40	239	0	0	0	1	0	40	239					T	50881936	C	T	50881936	2	4	79	1	0	0	0	0	0	0	0	1	10659	784	28	2		2	NR1H2	19	50881936	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19918	50881936	8247047	19562	29879											
POLD1	5424	broad.mit.edu	37	chr19	50905960	50905960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcattgcgcccttgcGcgtgctcagcttcgatatcg	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50905960G>A	ENST00000440232.2	+	8	985	c.932G>A	c.(931-933)cGc>cAc	p.R311H	POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	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)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(931-933)cGc>cAc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							27	26	26					19																	50905960		2202	4297	6499	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905960G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.932G>A	19.37:g.50905960G>A	ENSP00000406046:p.Arg311His					POLD1_ENST00000599857.1_Missense_Mutation_p.R311H|POLD1_ENST00000595904.1_Missense_Mutation_p.R311H	p.R311H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	8	985	+		all_neural(266;0.0571)	311					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.932G>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679948	0.68042	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.12672	2.66	4.69	2.32	0.28847	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.068072	0.64402	D	0.000019	T	0.34135	0.0887	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.28170	-1.0052	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	H	311;312	ENSP00000406046:R311H	ENSP00000366129:R312H	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		0.672	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			12	103	0	0	0	1	0	12	103					A	50905960	G	A	50905960	3	1	79	1	0	0	0	0	1	0	0	0	12232	1087	38	1	958	1	POLD1	19	50905960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24024	50905960	8223023	19563	29880											
MYBPC2	4606	broad.mit.edu	37	chr19	50944251	50944251	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aagagcgagtacgagaaaatCgccttccagtatggcatcac	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50944251C>T	ENST00000357701.5	+	8	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	229					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)		ACGAGAAAATCGCCTTCCAGT	0.542																																						ENST00000357701.5																			0				breast(1)	1						c.(685-687)atC>atT		myosin binding protein C, fast type							41	45	44					19																	50944251		2093	4247	6340	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944251C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.687C>T	19.37:g.50944251C>T							p.I229I	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	8	738	+		all_neural(266;0.057)	229					A1L4G9	Silent	SNP	ENST00000357701.5	37	c.687C>T	CCDS46152.1																																																																																				0.542	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		23	83	0	0	0	1	0	23	83					T	50944251	C	T	50944251	2	4	79	1	0	0	0	0	0	0	0	1	10053	874	31	1		1	MYBPC2	19	50944251	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38291	50944251	8184732	19564	29881											
MYBPC2	4606	broad.mit.edu	37	chr19	50958825	50958825	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagacaccaccaccacActcaagtggaggcctccgaa	9	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50958825A>G	ENST00000357701.5	+	20	2313	c.2262A>G	c.(2260-2262)acA>acG	p.T754T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	754	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCACCACCACACTCAAGTGGA	0.592																																						ENST00000357701.5																			0				breast(1)	1						c.(2260-2262)acA>acG		myosin binding protein C, fast type							93	96	95					19																	50958825		2013	4179	6192	SO:0001819	synonymous_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50958825A>G		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.2262A>G	19.37:g.50958825A>G							p.T754T	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	20	2313	+		all_neural(266;0.057)	754			Fibronectin type-III 2.		A1L4G9	Silent	SNP	ENST00000357701.5	37	c.2262A>G	CCDS46152.1																																																																																				0.592	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		94	418	0	0	0	1	0	94	418					G	50958825	A	G	50958825	2	3	79	1	0	0	0	0	0	0	0	1	10053	146	6	4		4	MYBPC2	19	50958825	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14574	50958825	8170158	19565	29882											
JOSD2	126119	broad.mit.edu	37	chr19	51010878	51010878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcccagcccctgcagagcGgccatgatcacattgacatc	10	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51010878G>A	ENST00000598418.1	-	3	478	c.225C>T	c.(223-225)gcC>gcT	p.A75A	JOSD2_ENST00000391815.3_Silent_p.A75A|JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Silent_p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN	Josephin domain containing 2	75	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)	cytoplasm (GO:0005737)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CCTGCAGAGCGGCCATGATCA	0.667																																						ENST00000598418.1																			0				kidney(1)|lung(3)|prostate(1)	5						c.(223-225)gcC>gcT		Josephin domain containing 2							82	89	87					19																	51010878		2203	4300	6503	SO:0001819	synonymous_variant	126119				protein deubiquitination		ubiquitin-specific protease activity	g.chr19:51010878G>A	AF247787	CCDS12797.1, CCDS59413.1	19q13.33	2008-02-05				ENSG00000161677			28853	protein-coding gene	gene with protein product		615324					Standard	NM_138334		Approved	SBBI54	uc031rmi.1	Q8TAC2		ENST00000598418.1:c.225C>T	19.37:g.51010878G>A						JOSD2_ENST00000595669.1_Intron|JOSD2_ENST00000601423.1_Silent_p.A75A|JOSD2_ENST00000391815.3_Silent_p.A75A	p.A75A	NM_001270639.1|NM_001270640.1	NP_001257568.1|NP_001257569.1	Q8TAC2	JOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)	3	478	-		all_neural(266;0.131)	75			Josephin.		M0QX25	Silent	SNP	ENST00000598418.1	37	c.225C>T	CCDS12797.1																																																																																				0.667	JOSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464902.1	NM_138334		135	703	0	0	0	1	0	135	703					A	51010878	G	A	51010878	2	1	79	1	0	0	0	0	0	0	0	1	7989	1103	39	1		1	JOSD2	19	51010878	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52053	51010878	8118105	19566	29883											
LRRC4B	94030	broad.mit.edu	37	chr19	51021414	51021414	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccaccccagacaccgTctgtcgtgggccctggcggt	13	18	1	1	rs201087269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021414T>C	ENST00000599957.1	-	3	1753	c.1556A>G	c.(1555-1557)gAc>gGc	p.D519G	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	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)		CCAGACACCGTCTGTCGTGGG	0.741													T|||	1	0.000199681	0.0	0.0014	5008	,	,		11092	0.0		0.0	False		,,,				2504	0.0					ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1555-1557)gAc>gGc		leucine rich repeat containing 4B							8	10	9					19																	51021414		1781	3942	5723	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021414T>C	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.1556A>G	19.37:g.51021414T>C	ENSP00000471502:p.Asp519Gly					LRRC4B_ENST00000389201.3_Missense_Mutation_p.D519G	p.D519G			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1753	-		all_neural(266;0.131)	519			Gly-rich.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1556A>G	CCDS42595.1	6	0.0027472527472527475	2	0.0040650406504065045	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.906	-0.020995	0.07634	.	.	ENSG00000131409	ENST00000389201	T	0.59083	0.29	3.05	3.05	0.35203	.	0.535452	0.15013	N	0.285479	T	0.25827	0.0629	N	0.08118	0	0.23496	N	0.997551	B	0.06786	0.001	B	0.04013	0.001	T	0.11275	-1.0594	10	0.22706	T	0.39	.	9.4792	0.38891	0.0:0.0:0.0:1.0	.	519	Q9NT99	LRC4B_HUMAN	G	519	ENSP00000373853:D519G	ENSP00000373853:D519G	D	-	2	0	LRRC4B	55713226	0.001000	0.12720	0.892000	0.35008	0.313000	0.28021	0.541000	0.23207	1.393000	0.46605	0.379000	0.24179	GAC		0.741	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		24	106	0	0	0	1	0	24	106					C	51021414	T	C	51021414	3	2	79	1	0	0	0	0	1	0	0	0	9045	1667	58	4	589	4	LRRC4B	19	51021414	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10536	51021414	8107569	19567	29884											
LRRC4B	94030	broad.mit.edu	37	chr19	51021716	51021716	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgaagttaagcgtgccGtcatgcaggacggagatgcg	16	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021716G>A	ENST00000599957.1	-	3	1451	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D	LRRC4B_ENST00000389201.3_Silent_p.D418D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	418	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TAAGCGTGCCGTCATGCAGGA	0.652																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1252-1254)gaC>gaT		leucine rich repeat containing 4B							64	73	70					19																	51021716		2196	4278	6474	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021716G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1254C>T	19.37:g.51021716G>A						LRRC4B_ENST00000389201.3_Silent_p.D418D	p.D418D			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1451	-		all_neural(266;0.131)	418			Ig-like C2-type.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1254C>T	CCDS42595.1																																																																																				0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		51	264	0	0	0	1	0	51	264					A	51021716	G	A	51021716	2	1	79	1	0	0	0	0	0	0	0	1	9045	1136	40	1		1	LRRC4B	19	51021716	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	302	51021716	8107267	19568	29885											
LRRC4B	94030	broad.mit.edu	37	chr19	51021728	51021728	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgccgtcatgcaggacGgagatgcgcacgcggtagga	17	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021728G>A	ENST00000599957.1	-	3	1439	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	LRRC4B_ENST00000389201.3_Silent_p.S414S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	414	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CATGCAGGACGGAGATGCGCA	0.637																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1240-1242)tcC>tcT		leucine rich repeat containing 4B							63	72	69					19																	51021728		2196	4278	6474	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021728G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1242C>T	19.37:g.51021728G>A						LRRC4B_ENST00000389201.3_Silent_p.S414S	p.S414S			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1439	-		all_neural(266;0.131)	414			Ig-like C2-type.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1242C>T	CCDS42595.1																																																																																				0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		11	296	0	0	0	1	0	11	296					A	51021728	G	A	51021728	2	1	79	1	0	0	0	0	0	0	0	1	9045	1103	39	1		1	LRRC4B	19	51021728	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	51021728	8107255	19569	29886											
LRRC4B	94030	broad.mit.edu	37	chr19	51021887	51021887	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccacgatgacgggcgcataGcaggtgaaatgcgactggtc	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021887G>T	ENST00000599957.1	-	3	1280	c.1083C>A	c.(1081-1083)tgC>tgA	p.C361*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	361	LRRCT.				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)		CGGGCGCATAGCAGGTGAAAT	0.667																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1081-1083)tgC>tgA		leucine rich repeat containing 4B							49	55	53					19																	51021887		2108	4221	6329	SO:0001587	stop_gained	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021887G>T	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.1083C>A	19.37:g.51021887G>T	ENSP00000471502:p.Cys361*					LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.C361*	p.C361*			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1280	-		all_neural(266;0.131)	361			LRRCT.		Q3ZCQ4|Q58F20	Nonsense_Mutation	SNP	ENST00000599957.1	37	c.1083C>A	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	36	5.798000	0.96952	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	.	.	.	3.9	3.9	0.45041	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7911	0.63140	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000373853:C361X	C	-	3	2	LRRC4B	55713699	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.597000	0.61062	2.192000	0.70111	0.561000	0.74099	TGC		0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		53	241	1	0	2.73381e-35	1	3.26223e-35	53	241					T	51021887	G	T	51021887	4	4	79	1	0	0	0	0	0	1	0	0	9045	963	34	3	1062	3	LRRC4B	19	51021887	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	159	51021887	8107096	19570	29887											
LRRC4B	94030	broad.mit.edu	37	chr19	51022052	51022052	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggggttgtggttgaggtgCacgcgctcgaggcggtgcag	20	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51022052C>T	ENST00000599957.1	-	3	1115	c.918G>A	c.(916-918)gtG>gtA	p.V306V	LRRC4B_ENST00000389201.3_Silent_p.V306V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	306					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)		GGTTGAGGTGCACGCGCTCGA	0.642																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(916-918)gtG>gtA		leucine rich repeat containing 4B							79	91	87					19																	51022052		2176	4265	6441	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022052C>T	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.918G>A	19.37:g.51022052C>T						LRRC4B_ENST00000389201.3_Silent_p.V306V	p.V306V			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1115	-		all_neural(266;0.131)	306					Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.918G>A	CCDS42595.1																																																																																				0.642	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		103	380	0	0	0	1	0	103	380					T	51022052	C	T	51022052	2	4	79	1	0	0	0	0	0	0	0	1	9045	697	25	2		2	LRRC4B	19	51022052	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	165	51022052	8106931	19571	29888											
SYT3	84258	broad.mit.edu	37	chr19	51128446	51128446	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgatgccagtgctccacGggcttgcggggattggccag	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51128446G>A	ENST00000338916.4	-	7	2313	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	SYT3_ENST00000600079.1_Silent_p.P560P|SYT3_ENST00000544769.1_Silent_p.P560P|SYT3_ENST00000593901.1_Silent_p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	560					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)		AGTGCTCCACGGGCTTGCGGG	0.677																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1678-1680)ccC>ccT		synaptotagmin III							41	35	37					19																	51128446		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51128446G>A	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.1680C>T	19.37:g.51128446G>A						SYT3_ENST00000593901.1_Silent_p.P560P|SYT3_ENST00000544769.1_Silent_p.P560P|SYT3_ENST00000600079.1_Silent_p.P560P	p.P560P	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	7	2313	-		all_neural(266;0.131)	560					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.1680C>T	CCDS12798.1																																																																																				0.677	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		13	70	0	0	0	1	0	13	70					A	51128446	G	A	51128446	2	1	79	1	0	0	0	0	0	0	0	1	15527	1103	39	1		1	SYT3	19	51128446	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106394	51128446	8000537	19572	29889											
SYT3	84258	broad.mit.edu	37	chr19	51133064	51133064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgaaactttttcttgcGgtcaggcagcaggtagatct	12	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51133064G>A	ENST00000338916.4	-	3	1672	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	SYT3_ENST00000600079.1_Missense_Mutation_p.R347C|SYT3_ENST00000544769.1_Missense_Mutation_p.R347C|SYT3_ENST00000593901.1_Missense_Mutation_p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	347	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTTTCTTGCGGTCAGGCAGC	0.622																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1039-1041)Cgc>Tgc		synaptotagmin III							61	61	61					19																	51133064		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133064G>A	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.1039C>T	19.37:g.51133064G>A	ENSP00000340914:p.Arg347Cys					SYT3_ENST00000593901.1_Missense_Mutation_p.R347C|SYT3_ENST00000544769.1_Missense_Mutation_p.R347C|SYT3_ENST00000600079.1_Missense_Mutation_p.R347C	p.R347C	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1672	-		all_neural(266;0.131)	347			C2 1.		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.1039C>T	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725553	0.68959	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.09073	3.02;3.02	4.67	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000011	T	0.24967	0.0606	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.00891	-1.1525	10	0.87932	D	0	.	16.7093	0.85381	0.0:0.0:1.0:0.0	.	347	Q9BQG1	SYT3_HUMAN	C	347	ENSP00000340914:R347C;ENSP00000438883:R347C	ENSP00000340914:R347C	R	-	1	0	SYT3	55824876	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	2.641000	0.46587	2.301000	0.77427	0.655000	0.94253	CGC		0.622	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		99	388	0	0	0	1	0	99	388					A	51133064	G	A	51133064	3	1	79	1	0	0	0	0	1	0	0	0	15527	1116	39	1	757	1	SYT3	19	51133064	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4618	51133064	7995919	19573	29890											
SHANK1	50944	broad.mit.edu	37	chr19	51165631	51165631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaggcctgggtagaggggtCcggaaggcaggatgggcagg	22	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51165631C>T	ENST00000293441.1	-	23	6095	c.6077G>A	c.(6076-6078)gGa>gAa	p.G2026E	SHANK1_ENST00000483981.2_5'UTR|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2026			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)		GTAGAGGGGTCCGGAAGGCAG	0.716																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(6076-6078)gGa>gAa		SH3 and multiple ankyrin repeat domains 1							18	18	18					19																	51165631		2180	4266	6446	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165631C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6077G>A	19.37:g.51165631C>T	ENSP00000293441:p.Gly2026Glu					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2034E|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2017E|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1413E	p.G2026E	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6095	-		all_neural(266;0.057)	2026		G -> R (in a colorectal cancer sample; somatic mutation).			A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6077G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	8.484	0.860483	0.17178	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36520	1.37;1.82;1.36;1.25	3.46	3.46	0.39613	.	0.593958	0.14308	U	0.327895	T	0.33469	0.0864	L	0.40543	1.245	0.27133	N	0.961838	P;P	0.45827	0.652;0.867	B;P	0.47645	0.173;0.553	T	0.12016	-1.0564	10	0.49607	T	0.09	.	6.4576	0.21938	0.204:0.5973:0.1986:0.0	.	2026;1413	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	E	2026;1413;2017;2034	ENSP00000293441:G2026E;ENSP00000375689:G1413E;ENSP00000351984:G2017E;ENSP00000375690:G2034E	ENSP00000293441:G2026E	G	-	2	0	SHANK1	55857443	0.000000	0.05858	0.993000	0.49108	0.979000	0.70002	0.447000	0.21710	1.940000	0.56252	0.455000	0.32223	GGA		0.716	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		19	69	0	0	0	1	0	19	69					T	51165631	C	T	51165631	3	4	79	1	0	0	0	0	1	0	0	0	14314	855	30	2	412	2	SHANK1	19	51165631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32567	51165631	7963352	19574	29891											
SHANK1	50944	broad.mit.edu	37	chr19	51169770	51169770	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggacttctggctctacagccAccggaccccccgccacgcct	9	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51169770A>G	ENST00000293441.1	-	22	5465	c.5447T>C	c.(5446-5448)gTg>gCg	p.V1816A	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A|SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1816					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)		CTCTACAGCCACCGGACCCCC	0.726																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(5446-5448)gTg>gCg		SH3 and multiple ankyrin repeat domains 1							4	5	5					19																	51169770		2028	4027	6055	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169770A>G	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.5447T>C	19.37:g.51169770A>G	ENSP00000293441:p.Val1816Ala					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1824A|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1807A|SHANK1_ENST00000391813.1_Missense_Mutation_p.V1203A	p.V1816A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5465	-		all_neural(266;0.057)	1816					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5447T>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	A	2.736	-0.263213	0.05754	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37235	1.33;1.73;1.31;1.21	2.59	0.147	0.14838	.	2.425490	0.03225	U	0.178136	T	0.25531	0.0621	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.09422	-1.0675	10	0.10377	T	0.69	.	3.9956	0.09556	0.4176:0.4464:0.136:0.0	.	1816;1203	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	A	1816;1203;1807;1824	ENSP00000293441:V1816A;ENSP00000375689:V1203A;ENSP00000351984:V1807A;ENSP00000375690:V1824A	ENSP00000293441:V1816A	V	-	2	0	SHANK1	55861582	0.163000	0.22920	0.055000	0.19348	0.589000	0.36550	0.444000	0.21661	-0.171000	0.10797	0.164000	0.16699	GTG		0.726	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		11	54	0	0	0	1	0	11	54					G	51169770	A	G	51169770	3	3	79	1	0	0	0	0	1	0	0	0	14314	159	6	4	1046	4	SHANK1	19	51169770	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4139	51169770	7959213	19575	29892											
SHANK1	50944	broad.mit.edu	37	chr19	51220126	51220126	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccccctcgggacactcGctggcactgtggcgttcctc	12	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51220126G>A	ENST00000293441.1	-	1	69	c.51C>T	c.(49-51)agC>agT	p.S17S	SHANK1_ENST00000359082.3_Silent_p.S17S|SHANK1_ENST00000391814.1_Silent_p.S17S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	17					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)		CGGGACACTCGCTGGCACTGT	0.736																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(49-51)agC>agT		SH3 and multiple ankyrin repeat domains 1							13	14	13					19																	51220126		2185	4267	6452	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51220126G>A	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.51C>T	19.37:g.51220126G>A						SHANK1_ENST00000391814.1_Silent_p.S17S|SHANK1_ENST00000359082.3_Silent_p.S17S	p.S17S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	69	-		all_neural(266;0.057)	17					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.51C>T	CCDS12799.1																																																																																				0.736	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		26	60	0	0	0	1	0	26	60					A	51220126	G	A	51220126	2	1	79	1	0	0	0	0	0	0	0	1	14314	1078	38	1		1	SHANK1	19	51220126	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50356	51220126	7908857	19576	29893											
CLEC11A	6320	broad.mit.edu	37	chr19	51226907	51226907	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggaggaggagcgggAgagggaggccctgatgctga	20	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51226907A>T	ENST00000250340.4	+	1	322	c.125A>T	c.(124-126)gAg>gTg	p.E42V	CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	42					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gaggagcgggagagggaggCC	0.637																																						ENST00000250340.4																			0				kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(124-126)gAg>gTg		C-type lectin domain family 11, member A							57	57	57					19																	51226907		2203	4300	6503	SO:0001583	missense	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51226907A>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.125A>T	19.37:g.51226907A>T	ENSP00000250340:p.Glu42Val					CLEC11A_ENST00000599973.1_Missense_Mutation_p.E42V	p.E42V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	322	+		all_neural(266;0.057)	42					B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	c.125A>T	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838773	0.51057	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.46819	0.86	3.09	3.09	0.35607	.	0.279407	0.22182	N	0.063482	T	0.34308	0.0893	L	0.27053	0.805	0.32344	N	0.55937	P	0.45348	0.856	B	0.42995	0.404	T	0.50013	-0.8877	10	0.87932	D	0	-10.7094	7.8693	0.29556	1.0:0.0:0.0:0.0	.	42	Q9Y240	CLC11_HUMAN	V	42	ENSP00000250340:E42V	ENSP00000250340:E42V	E	+	2	0	CLEC11A	55918719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.855000	0.48333	1.430000	0.47334	0.379000	0.24179	GAG		0.637	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		45	141	0	0	0	1	0	45	141					T	51226907	A	T	51226907	3	4	79	1	0	0	0	0	1	0	0	0	3505	304	11	5	127	5	CLEC11A	19	51226907	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6781	51226907	7902076	19577	29894											
CLEC11A	6320	broad.mit.edu	37	chr19	51228461	51228461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctcgctccctacaactggCccgtgtggctgggcgtgcac	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51228461C>T	ENST00000250340.4	+	4	906	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	237	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTACAACTGGCCCGTGTGGCT	0.726																																						ENST00000250340.4																			0				kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(709-711)Ccc>Tcc		C-type lectin domain family 11, member A							7	10	9					19																	51228461		2126	4215	6341	SO:0001583	missense	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51228461C>T	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.709C>T	19.37:g.51228461C>T	ENSP00000250340:p.Pro237Ser					CLEC11A_ENST00000599973.1_Missense_Mutation_p.A253V	p.P237S	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	906	+		all_neural(266;0.057)	237			C-type lectin.		B2RAD4	Missense_Mutation	SNP	ENST00000250340.4	37	c.709C>T	CCDS12800.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892560	0.91889	.	.	ENSG00000105472	ENST00000250340	T	0.15952	2.38	3.91	3.91	0.45181	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.212847	0.39834	N	0.001246	T	0.27967	0.0689	L	0.28400	0.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	T	0.02519	-1.1147	10	0.27785	T	0.31	-23.8668	15.1898	0.73035	0.0:1.0:0.0:0.0	.	237	Q9Y240	CLC11_HUMAN	S	237	ENSP00000250340:P237S	ENSP00000250340:P237S	P	+	1	0	CLEC11A	55920273	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.160000	0.71862	2.177000	0.69029	0.455000	0.32223	CCC		0.726	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		9	51	0	0	0	1	0	9	51					T	51228461	C	T	51228461	3	4	79	1	0	0	0	0	1	0	0	0	3505	739	26	2	723	2	CLEC11A	19	51228461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1554	51228461	7900522	19578	29895											
GPR32	2854	broad.mit.edu	37	chr19	51274701	51274701	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttggtccatctgtggCgacgggtgatgctcaaggaa	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51274701C>T	ENST00000270590.4	+	1	981	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	282					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)		CCATCTGTGGCGACGGGTGAT	0.582																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(844-846)Cga>Tga		G protein-coupled receptor 32							91	90	90					19																	51274701		2203	4300	6503	SO:0001587	stop_gained	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274701C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.844C>T	19.37:g.51274701C>T	ENSP00000270590:p.Arg282*						p.R282*	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	981	+		all_neural(266;0.131)	282					Q502U7|Q6NWS5	Nonsense_Mutation	SNP	ENST00000270590.4	37	c.844C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656333	0.47467	.	.	ENSG00000142511	ENST00000270590	.	.	.	1.99	-1.38	0.09027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	5.3727	0.16148	0.2073:0.3822:0.4105:0.0	.	.	.	.	X	282	.	ENSP00000270590:R282X	R	+	1	2	GPR32	55966513	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-0.521000	0.06245	-0.399000	0.07668	0.313000	0.20887	CGA		0.582	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			17	510	0	0	0	1	0	17	510					T	51274701	C	T	51274701	4	4	79	1	0	0	0	0	0	1	0	0	6717	760	27	1	846	1	GPR32	19	51274701	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46240	51274701	7854282	19579	29896											
KLK15	55554	broad.mit.edu	37	chr19	51330304	51330304	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaacatgatgtcgttgCggtggctgcgcgcttcgtag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330304C>T	ENST00000598239.1	-	3	341	c.311G>A	c.(310-312)cGc>cAc	p.R104H	KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H|KLK15_ENST00000326856.4_Missense_Mutation_p.R103H|KLK15_ENST00000596931.1_Missense_Mutation_p.R103H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	104	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)		GATGTCGTTGCGGTGGCTGCG	0.697																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(307-309)cGc>cAc		kallikrein-related peptidase 15							65	58	61					19																	51330304		2200	4298	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330304C>T	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.311G>A	19.37:g.51330304C>T	ENSP00000469315:p.Arg104His					KLK15_ENST00000416184.1_Missense_Mutation_p.R104H|KLK15_ENST00000301421.2_Missense_Mutation_p.R104H|KLK15_ENST00000596931.1_Missense_Mutation_p.R103H|KLK15_ENST00000598239.1_Missense_Mutation_p.R104H	p.R103H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	437	-		all_neural(266;0.057)	104			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.308G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	14.60	2.584354	0.46110	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.88586	-2.4;-2.4	4.39	-8.27	0.01017	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.832426	0.10336	N	0.686950	T	0.72095	0.3418	N	0.11673	0.155	0.09310	N	0.999995	B;B;B;B	0.28419	0.097;0.063;0.211;0.208	B;B;B;B	0.30716	0.038;0.032;0.119;0.11	T	0.62581	-0.6824	10	0.59425	D	0.04	.	5.7109	0.17935	0.5217:0.2582:0.0:0.22	.	104;103;104;104	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	104	ENSP00000415136:R104H;ENSP00000301421:R104H	ENSP00000301421:R104H	R	-	2	0	KLK15	56022116	0.014000	0.17966	0.002000	0.10522	0.227000	0.25037	0.169000	0.16641	-1.179000	0.02737	0.555000	0.69702	CGC		0.697	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		25	512	0	0	0	1	0	25	512					T	51330304	C	T	51330304	3	4	79	1	0	0	0	0	1	0	0	0	8433	768	27	1	471	1	KLK15	19	51330304	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	55603	51330304	7798679	19580	29897											
KLK15	55554	broad.mit.edu	37	chr19	51330990	51330990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccacagttaaagcgtccaCgctcgtagagagccacttgc	10	14	0	1	rs200999769	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330990C>T	ENST00000598239.1	-	2	155	c.125G>A	c.(124-126)cGt>cAt	p.R42H	KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H|AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000326856.4_Missense_Mutation_p.R41H|KLK15_ENST00000596931.1_Missense_Mutation_p.R41H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	42	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)		AAAGCGTCCACGCTCGTAGAG	0.607																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(121-123)cGt>cAt		kallikrein-related peptidase 15							99	72	81					19																	51330990		2203	4296	6499	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330990C>T	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.125G>A	19.37:g.51330990C>T	ENSP00000469315:p.Arg42His					KLK15_ENST00000416184.1_Missense_Mutation_p.R42H|KLK15_ENST00000301421.2_Missense_Mutation_p.R42H|KLK15_ENST00000596931.1_Missense_Mutation_p.R41H|KLK15_ENST00000598239.1_Missense_Mutation_p.R42H	p.R41H	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	251	-		all_neural(266;0.057)	42			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.122G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218055	0.39201	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.93019	-3.15;-3.15	4.66	1.38	0.22167	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.345819	0.20904	N	0.083599	D	0.86502	0.5948	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.28419	0.036;0.067;0.211;0.059	B;B;B;B	0.24269	0.002;0.052;0.032;0.051	T	0.76299	-0.3010	10	0.41790	T	0.15	.	8.055	0.30600	0.0:0.7289:0.0:0.2711	.	42;41;42;42	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	H	42	ENSP00000415136:R42H;ENSP00000301421:R42H	ENSP00000301421:R42H	R	-	2	0	KLK15	56022802	0.011000	0.17503	0.003000	0.11579	0.895000	0.52256	0.694000	0.25512	0.304000	0.22809	0.561000	0.74099	CGT		0.607	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		15	229	0	0	0	1	0	15	229					T	51330990	C	T	51330990	3	4	79	1	0	0	0	0	1	0	0	0	8433	536	19	1	661	1	KLK15	19	51330990	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	686	51330990	7797993	19581	29898											
KLK3	354	broad.mit.edu	37	chr19	51361378	51361378	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cacagcttcccacacccgctCtacgatatgagcctcctgaa	6	17	1	2	rs2739452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51361378C>A	ENST00000326003.2	+	3	341	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000360617.3_Silent_p.L100L|KLK3_ENST00000593997.1_Silent_p.L100L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L100L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			2	Substitution - coding silent(2)	p.L100L(2)	urinary_tract(2)	breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(298-300)ctC>ctA		kallikrein-related peptidase 3							93	76	81					19																	51361378		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361378C>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.300C>A	19.37:g.51361378C>A						KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Silent_p.L100L|KLK3_ENST00000593997.1_Silent_p.L100L	p.L100L			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	300	+		all_neural(266;0.057)	100			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.300C>A	CCDS12807.1																																																																																				0.582	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		45	205	1	0	4.01765e-15	1	4.38033e-15	45	205					A	51361378	C	A	51361378	2	1	79	1	0	0	0	0	0	0	0	1	8435	900	32	3		3	KLK3	19	51361378	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30388	51361378	7767605	19582	29899											
KLK7	5650	broad.mit.edu	37	chr19	51483600	51483600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatggatgacagcctgGcctggctattgagcttcacg	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51483600G>A	ENST00000391807.1	-	4	466	c.365C>T	c.(364-366)gCc>gTc	p.A122V	KLK7_ENST00000595820.1_Missense_Mutation_p.A122V|KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000595638.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	122	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)		TGACAGCCTGGCCTGGCTATT	0.592																																						ENST00000391807.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19						c.(364-366)gCc>gTc		kallikrein-related peptidase 7							121	93	103					19																	51483600		2203	4300	6503	SO:0001583	missense	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51483600G>A	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.365C>T	19.37:g.51483600G>A	ENSP00000375683:p.Ala122Val					KLK7_ENST00000597707.1_Missense_Mutation_p.A50V|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Missense_Mutation_p.A9V|KLK7_ENST00000595820.1_Missense_Mutation_p.A122V	p.A122V	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	4	466	-		all_neural(266;0.026)	122			Peptidase S1.		A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	ENST00000391807.1	37	c.365C>T	CCDS12812.1	.	.	.	.	.	.	.	.	.	.	g	11.20	1.568450	0.28003	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	D;D	0.91686	-2.89;-2.23	4.6	0.361	0.16107	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254023	0.20322	N	0.094608	T	0.71239	0.3316	N	0.02916	-0.46	0.22656	N	0.99889	B	0.23937	0.094	B	0.16722	0.016	T	0.64162	-0.6472	10	0.02654	T	1	.	3.1037	0.06334	0.3087:0.0:0.4984:0.1929	.	122	P49862	KLK7_HUMAN	V	122;122;9	ENSP00000375683:A122V;ENSP00000337540:A9V	ENSP00000304791:A122V	A	-	2	0	KLK7	56175412	0.001000	0.12720	0.006000	0.13384	0.076000	0.17211	0.085000	0.14912	-0.128000	0.11641	0.448000	0.29417	GCC		0.592	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		49	202	0	0	0	1	0	49	202					A	51483600	G	A	51483600	3	1	79	1	0	0	0	0	1	0	0	0	8439	1203	42	2	408	2	KLK7	19	51483600	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	122222	51483600	7645383	19583	29900											
KLK7	5650	broad.mit.edu	37	chr19	51485163	51485163	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgccatcaataatcttgtcAccctgggctggatggagaca	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51485163A>G	ENST00000391807.1	-	3	182	c.81T>C	c.(79-81)ggT>ggC	p.G27G	KLK7_ENST00000595820.1_Silent_p.G27G|KLK7_ENST00000597707.1_5'UTR|KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595638.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	27					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)		TAATCTTGTCACCCTGGGCTG	0.597																																						ENST00000391807.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19						c.(79-81)ggT>ggC		kallikrein-related peptidase 7							55	50	52					19																	51485163		2203	4300	6503	SO:0001819	synonymous_variant	5650				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51485163A>G	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.81T>C	19.37:g.51485163A>G						KLK7_ENST00000597707.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_Intron|KLK7_ENST00000595820.1_Silent_p.G27G	p.G27G	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)	3	182	-		all_neural(266;0.026)	27					A8K0U5|Q8N5N9|Q8NFV7	Silent	SNP	ENST00000391807.1	37	c.81T>C	CCDS12812.1																																																																																				0.597	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464344.1	NM_005046		7	103	0	0	0	1	0	7	103					G	51485163	A	G	51485163	2	3	79	1	0	0	0	0	0	0	0	1	8439	146	6	4		4	KLK7	19	51485163	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1563	51485163	7643820	19584	29901											
KLK13	26085	broad.mit.edu	37	chr19	51563271	51563271	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccggtattcagggtgggggaTagagtggacaacttccctca	14	9	2	1	rs537179612	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51563271T>C	ENST00000595793.1	-	3	361	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.I107V|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	107	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTGGGGGATAGAGTGGACA	0.582													T|||	3	0.000599042	0.0	0.0	5008	,	,		12024	0.0		0.0	False		,,,				2504	0.0031					ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(319-321)Atc>Gtc		kallikrein-related peptidase 13							89	88	88					19																	51563271		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563271T>C		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.319A>G	19.37:g.51563271T>C	ENSP00000470555:p.Ile107Val					KLK13_ENST00000596955.1_Missense_Mutation_p.I107V|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron	p.I107V	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	3	361	-		all_neural(266;0.026)	107			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.319A>G	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	T	0.354	-0.942973	0.02322	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.76	0.519	0.17035	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.285942	0.25006	N	0.033862	T	0.40094	0.1103	L	0.34521	1.04	0.37140	D	0.901665	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.008	T	0.21655	-1.0239	9	0.49607	T	0.09	.	5.6968	0.17861	0.0:0.3757:0.0:0.6243	.	107;107	B5BUM9;Q9UKR3	.;KLK13_HUMAN	V	107	.	ENSP00000156476:I107V	I	-	1	0	KLK13	56255083	0.000000	0.05858	0.741000	0.31004	0.001000	0.01503	-0.831000	0.04405	0.169000	0.19679	-0.280000	0.10049	ATC		0.582	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		65	384	0	0	0	1	0	65	384					C	51563271	T	C	51563271	3	2	79	1	0	0	0	0	1	0	0	0	8431	1406	49	4	526	4	KLK13	19	51563271	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	78108	51563271	7565712	19585	29902											
KLK14	43847	broad.mit.edu	37	chr19	51582124	51582124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagaccatgccaggcGtgatggttctaggataggcc	13	11	1	2	rs541191047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51582124G>A	ENST00000156499.2	-	6	817	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KLK14_ENST00000391802.1_Missense_Mutation_p.T200M			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CATGCCAGGCGTGATGGTTCT	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		19490	0.0		0.0	False		,,,				2504	0.001				GBM(117;2161 2172 2448 22911)	ENST00000391802.1																			0				kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11						c.(598-600)aCg>aTg		kallikrein-related peptidase 14							189	193	192					19																	51582124		1988	4175	6163	SO:0001583	missense	43847				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity	g.chr19:51582124G>A	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.599C>T	19.37:g.51582124G>A	ENSP00000156499:p.Thr200Met					KLK14_ENST00000156499.2_Missense_Mutation_p.T200M	p.T200M	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)	6	817	-		all_neural(266;0.0199)	200			Peptidase S1.		A7UNK5|Q1RMZ2|Q6B089	Missense_Mutation	SNP	ENST00000156499.2	37	c.599C>T	CCDS12823.2	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528327	0.44969	.	.	ENSG00000129437	ENST00000156499;ENST00000391802	D;D	0.91068	-2.78;-2.78	4.49	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95771	0.8624	M	0.90252	3.1	0.37125	D	0.900994	D	0.89917	1.0	D	0.71184	0.972	D	0.98452	1.0592	9	0.87932	D	0	.	14.7352	0.69412	0.0:0.0:1.0:0.0	.	200	Q9P0G3	KLK14_HUMAN	M	200	ENSP00000156499:T200M;ENSP00000375678:T200M	ENSP00000156499:T200M	T	-	2	0	KLK14	56273936	1.000000	0.71417	0.228000	0.23943	0.021000	0.10359	4.476000	0.60216	2.079000	0.62486	0.394000	0.25966	ACG		0.587	KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046		44	1267	0	0	0	1	0	44	1267					A	51582124	G	A	51582124	3	1	79	1	0	0	0	0	1	0	0	0	8432	1145	40	1	212	1	KLK14	19	51582124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18853	51582124	7546859	19586	29903											
SIGLEC7	27036	broad.mit.edu	37	chr19	51647836	51647836	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgctcctcagtgctcAccctcatcccacagccccag	5	23	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51647836A>G	ENST00000317643.6	+	2	676	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	203	Ig-like C2-type 1.				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)		CTCAGTGCTCACCCTCATCCC	0.657																																						ENST00000317643.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(607-609)Acc>Gcc		sialic acid binding Ig-like lectin 7							62	61	62					19																	51647836		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51647836A>G	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.607A>G	19.37:g.51647836A>G	ENSP00000323328:p.Thr203Ala					SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	p.T203A	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	2	676	+		all_neural(266;0.0199)	203			Ig-like C2-type 1.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.607A>G	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311986	0.23821	.	.	ENSG00000168995	ENST00000317643	T	0.03635	3.86	2.9	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208382	0.24542	N	0.037621	T	0.09468	0.0233	M	0.88979	2.995	0.21220	N	0.999752	P	0.43352	0.804	P	0.47134	0.539	T	0.05386	-1.0888	10	0.42905	T	0.14	.	4.7918	0.13252	0.7228:0.0:0.0:0.2772	.	203	Q9Y286	SIGL7_HUMAN	A	203	ENSP00000323328:T203A	ENSP00000323328:T203A	T	+	1	0	SIGLEC7	56339648	0.006000	0.16342	0.444000	0.26895	0.012000	0.07955	0.237000	0.17985	1.360000	0.45960	0.432000	0.28606	ACC		0.657	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		39	501	0	0	0	1	0	39	501					G	51647836	A	G	51647836	3	3	79	1	0	0	0	0	1	0	0	0	14363	159	6	4	613	4	SIGLEC7	19	51647836	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	65712	51647836	7481147	19587	29904											
CD33	945	broad.mit.edu	37	chr19	51728523	51728523	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcaagtgcaggagtcagtGacggtacaggagggtttgtg	17	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51728523G>A	ENST00000262262.4	+	2	108	c.87G>A	c.(85-87)gtG>gtA	p.V29V	CD33_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	29	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGAGTCAGTGACGGTACAGG	0.587																																						ENST00000262262.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(85-87)gtG>gtA		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						61	60	60					19																	51728523		2203	4300	6503	SO:0001819	synonymous_variant	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728523G>A	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.87G>A	19.37:g.51728523G>A						CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Silent_p.V29V|CD33_ENST00000436584.2_Intron	p.V29V	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	108	+		all_neural(266;0.0199)	29			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	ENST00000262262.4	37	c.87G>A	CCDS33084.1																																																																																				0.587	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		77	325	0	0	0	1	0	77	325					A	51728523	G	A	51728523	2	1	79	1	0	0	0	0	0	0	0	1	3014	1277	45	2		2	CD33	19	51728523	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80687	51728523	7400460	19588	29905											
CD33	945	broad.mit.edu	37	chr19	51729117	51729117	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctagaacccggccactccaaAaacctgacctgctctgtgtc	7	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51729117A>C	ENST00000262262.4	+	3	498	c.477A>C	c.(475-477)aaA>aaC	p.K159N	CD33_ENST00000391796.3_Missense_Mutation_p.K159N|CD33_ENST00000436584.2_Missense_Mutation_p.K32N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	159	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCACTCCAAAAACCTGACCT	0.597																																						ENST00000436584.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(94-96)aaA>aaC		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						83	87	86					19																	51729117		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51729117A>C	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.477A>C	19.37:g.51729117A>C	ENSP00000262262:p.Lys159Asn					CD33_ENST00000262262.4_Missense_Mutation_p.K159N|CD33_ENST00000421133.2_Missense_Mutation_p.K32N|CD33_ENST00000391796.3_Missense_Mutation_p.K159N	p.K32N			P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	151	+		all_neural(266;0.0199)	159			Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.96A>C	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	5.940	0.357520	0.11239	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	2.66	-5.33	0.02713	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.962470	0.01326	U	0.011118	T	0.15089	0.0364	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26120	0.082;0.142;0.082	B;B;B	0.29663	0.105;0.037;0.065	T	0.19386	-1.0307	10	0.44086	T	0.13	.	5.2146	0.15336	0.2717:0.4967:0.2316:0.0	.	32;159;159	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	N	32;159;32;159	ENSP00000403331:K32N;ENSP00000262262:K159N;ENSP00000410126:K32N;ENSP00000375673:K159N	ENSP00000262262:K159N	K	+	3	2	CD33	56420929	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.755000	0.01814	-1.378000	0.02120	-0.666000	0.03841	AAA		0.597	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		126	527	0	0	0	1	0	126	527					C	51729117	A	C	51729117	3	2	79	1	0	0	0	0	1	0	0	0	3014	11	1	4	487	4	CD33	19	51729117	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	594	51729117	7399866	19589	29906											
NKG7	4818	broad.mit.edu	37	chr19	51875714	51875714	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagcctcaaaccagaaatCggtgctcaaagcaatcaggc	8	13	3	1	rs374965402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51875714C>T	ENST00000221978.5	-	1	255	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NKG7_ENST00000600427.1_Missense_Mutation_p.D26N|NKG7_ENST00000595217.1_Missense_Mutation_p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	26						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AACCAGAAATCGGTGCTCAAA	0.612																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(76-78)Gat>Aat		natural killer cell group 7 sequence		C	ASN/ASP	0,4406		0,0,2203	83	83	83		76	-1	0.5	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	NKG7	NM_005601.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	26/166	51875714	1,13005	2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875714C>T		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"granule membrane protein 17"	606008	"natural killer cell group 7 sequence"			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.76G>A	19.37:g.51875714C>T	ENSP00000221978:p.Asp26Asn					NKG7_ENST00000595217.1_Missense_Mutation_p.D26N|NKG7_ENST00000600427.1_Missense_Mutation_p.D26N	p.D26N	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	255	-		all_neural(266;0.0199)	26						Missense_Mutation	SNP	ENST00000221978.5	37	c.76G>A	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435883	0.43224	0.0	1.16E-4	ENSG00000105374	ENST00000221978	D	0.89552	-2.53	4.98	-1.04	0.10068	.	0.464649	0.18207	N	0.148306	T	0.79246	0.4413	L	0.39397	1.21	0.23681	N	0.997127	B	0.28850	0.225	B	0.25759	0.063	T	0.63637	-0.6592	10	0.20519	T	0.43	0.9973	7.6275	0.28220	0.0:0.4564:0.0:0.5436	.	26	Q16617	NKG7_HUMAN	N	26	ENSP00000221978:D26N	ENSP00000221978:D26N	D	-	1	0	NKG7	56567526	0.001000	0.12720	0.452000	0.26994	0.434000	0.31775	-0.128000	0.10531	-0.229000	0.09854	0.561000	0.74099	GAT		0.612	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		128	416	0	0	0	1	0	128	416					T	51875714	C	T	51875714	3	4	79	1	0	0	0	0	1	0	0	0	10485	884	31	1	437	1	NKG7	19	51875714	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146597	51875714	7253269	19590	29907											
LIM2	3982	broad.mit.edu	37	chr19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgccagtccccaaagcggCggcccaggaagctgacggtg	15	14	0	1	rs371415135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51883833C>T	ENST00000596399.1	-	4	433	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LIM2_ENST00000221973.3_Missense_Mutation_p.R171H	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	129					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAAAGCGGCGGCCCAGGAA	0.627																																						ENST00000221973.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(511-513)cGc>cAc		lens intrinsic membrane protein 2, 19kDa							104	105	105					19																	51883833		2203	4300	6503	SO:0001583	missense	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51883833C>T		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.386G>A	19.37:g.51883833C>T	ENSP00000472090:p.Arg129His					LIM2_ENST00000596399.1_Missense_Mutation_p.R129H	p.R171H	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	4	554	-		all_neural(266;0.0529)	129					Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	ENST00000596399.1	37	c.512G>A	CCDS59415.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148262	0.78001	.	.	ENSG00000105370	ENST00000221973	D	0.89196	-2.48	4.73	3.7	0.42460	.	0.069759	0.56097	D	0.000021	D	0.89136	0.6629	L	0.40543	1.245	0.39623	D	0.970065	D;D	0.89917	0.996;1.0	P;D	0.65773	0.888;0.938	D	0.88558	0.3121	10	0.59425	D	0.04	-30.4197	6.3299	0.21264	0.0:0.7947:0.0:0.2053	.	129;171	P55344;P55344-2	LMIP_HUMAN;.	H	171	ENSP00000221973:R171H	ENSP00000221973:R171H	R	-	2	0	LIM2	56575645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.178000	0.69098	0.655000	0.94253	CGC		0.627	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1	NM_030657		175	734	0	0	0	1	0	175	734					T	51883833	C	T	51883833	3	4	79	1	0	0	0	0	1	0	0	0	8827	768	27	1	143	1	LIM2	19	51883833	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8119	51883833	7245150	19591	29908											
SIGLEC10	89790	broad.mit.edu	37	chr19	51918657	51918657	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctttggccctccagtaCtgggagagacgtgccgttcc	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51918657C>T	ENST00000339313.5	-	7	1224	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.V370I			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	370	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V370L(1)|p.V312L(1)		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)		CCCTCCAGTACTGGGAGAGAC	0.632																																						ENST00000353836.5																			2	Substitution - Missense(2)	p.V370L(1)|p.V312L(1)	lung(2)	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						c.(1108-1110)Gta>Ata		sialic acid binding Ig-like lectin 10							41	43	42					19																	51918657		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51918657C>T	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.1108G>A	19.37:g.51918657C>T	ENSP00000345243:p.Val370Ile					SIGLEC10_ENST00000439889.2_Missense_Mutation_p.V312I|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.V280I|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.V370I|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.V287I|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.V322I|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.V312I|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.V222I	p.V370I	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	7	1329	-		all_neural(266;0.0199)	370			Ig-like C2-type 3.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1108G>A	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.947344	0.34377	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	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	4.64	3.59	0.41128	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.417373	0.20806	N	0.085331	T	0.26122	0.0637	L	0.45470	1.425	0.24844	N	0.992441	D;D;D;D;D;D;P;P	0.89917	0.972;0.996;1.0;0.999;1.0;1.0;0.674;0.881	D;D;D;D;D;D;B;P	0.91635	0.946;0.998;0.999;0.988;0.999;0.999;0.291;0.694	T	0.01626	-1.1309	10	0.41790	T	0.15	.	9.0636	0.36449	0.0:0.8925:0.0:0.1075	.	322;280;370;222;370;312;312;370	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	I	370;287;222;370;312;280;312;322;370	ENSP00000342389:V370I;ENSP00000396742:V287I;ENSP00000395475:V222I;ENSP00000348646:V370I;ENSP00000408387:V312I;ENSP00000431444:V280I;ENSP00000389132:V312I;ENSP00000414324:V322I;ENSP00000345243:V370I	ENSP00000345243:V370I	V	-	1	0	SIGLEC10	56610469	0.940000	0.31905	0.759000	0.31340	0.187000	0.23431	2.191000	0.42640	2.135000	0.66039	0.462000	0.41574	GTA		0.632	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		47	317	0	0	0	1	0	47	317					T	51918657	C	T	51918657	3	4	79	1	0	0	0	0	1	0	0	0	14356	565	20	2	1005	2	SIGLEC10	19	51918657	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34824	51918657	7210326	19592	29909											
SIGLEC8	27181	broad.mit.edu	37	chr19	51957546	51957546	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcccgctgctggccttgccGatttcttcctgcaggacctc	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51957546G>A	ENST00000321424.3	-	6	1238	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	391					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTTGCCGATTTCTTCCT	0.597																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1171-1173)tCg>tTg		sialic acid binding Ig-like lectin 8							102	95	98					19																	51957546		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51957546G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1172C>T	19.37:g.51957546G>A	ENSP00000321077:p.Ser391Leu					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S298L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S282L	p.S391L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	6	1238	-		all_neural(266;0.0199)	391					Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1172C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970335	0.34754	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.62941	1.35;-0.01;1.1	1.91	0.861	0.19048	.	.	.	.	.	T	0.58892	0.2154	L	0.53249	1.67	0.09310	N	1	P;D;D	0.67145	0.552;0.996;0.974	B;P;B	0.50617	0.067;0.646;0.184	T	0.48433	-0.9036	9	0.40728	T	0.16	.	4.1592	0.10275	0.2124:0.0:0.7876:0.0	.	282;298;391	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	282;391;298	ENSP00000389142:S282L;ENSP00000321077:S391L;ENSP00000339448:S298L	ENSP00000321077:S391L	S	-	2	0	SIGLEC8	56649358	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.075000	0.14686	0.366000	0.24427	0.502000	0.49764	TCG		0.597	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		99	495	0	0	0	1	0	99	495					A	51957546	G	A	51957546	3	1	79	1	0	0	0	0	1	0	0	0	14364	1059	37	1	335	1	SIGLEC8	19	51957546	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38889	51957546	7171437	19593	29910											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960443	51960443	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggctctgtcctacctgtgGcatctccttggaagacagtc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960443G>A	ENST00000321424.3	-	3	842	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	259	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTACCTGTGGCATCTCCTTG	0.562																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(775-777)gCc>gTc		sialic acid binding Ig-like lectin 8							96	91	93					19																	51960443		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960443G>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.776C>T	19.37:g.51960443G>A	ENSP00000321077:p.Ala259Val					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.A166V|SIGLEC8_ENST00000430817.1_Intron	p.A259V	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	3	842	-		all_neural(266;0.0199)	259			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.776C>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	4.032	0.003496	0.07866	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.61859	0.07;1.16	2.01	-3.68	0.04463	Immunoglobulin-like (1);	1.464450	0.04674	N	0.411134	T	0.26484	0.0647	N	0.02368	-0.58	0.09310	N	1	B;B	0.18610	0.02;0.029	B;B	0.20577	0.03;0.028	T	0.07849	-1.0751	10	0.23891	T	0.37	.	3.4536	0.07507	0.0:0.3377:0.2129:0.4494	.	166;259	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	V	259;166	ENSP00000321077:A259V;ENSP00000339448:A166V	ENSP00000321077:A259V	A	-	2	0	SIGLEC8	56652255	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.241000	0.08940	-0.772000	0.04602	-1.650000	0.00758	GCC		0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		84	416	0	0	0	1	0	84	416					A	51960443	G	A	51960443	3	1	79	1	0	0	0	0	1	0	0	0	14364	1203	42	2	743	2	SIGLEC8	19	51960443	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2897	51960443	7168540	19594	29911											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960871	51960871	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggaggacacggaggcccCaatccaggagatcatggggg	18	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960871C>T	ENST00000321424.3	-	2	643	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	193	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGGAGGCCCCAATCCAGGAG	0.652																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(577-579)Ggg>Agg		sialic acid binding Ig-like lectin 8							61	65	63					19																	51960871		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960871C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.577G>A	19.37:g.51960871C>T	ENSP00000321077:p.Gly193Arg					SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	p.G193R	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	643	-		all_neural(266;0.0199)	193			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.577G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344112	0.41498	.	.	ENSG00000105366	ENST00000321424	T	0.07800	3.16	2.69	1.6	0.23607	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.384458	0.18663	N	0.134666	T	0.17450	0.0419	M	0.86343	2.81	0.09310	N	1	D	0.53151	0.958	P	0.50405	0.64	T	0.10154	-1.0642	10	0.27082	T	0.32	.	6.7857	0.23672	0.2792:0.7208:0.0:0.0	.	193	Q9NYZ4	SIGL8_HUMAN	R	193	ENSP00000321077:G193R	ENSP00000321077:G193R	G	-	1	0	SIGLEC8	56652683	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	0.125000	0.15749	0.430000	0.26230	0.502000	0.49764	GGG		0.652	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		111	411	0	0	0	1	0	111	411					T	51960871	C	T	51960871	3	4	79	1	0	0	0	0	1	0	0	0	14364	594	21	2	946	2	SIGLEC8	19	51960871	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	428	51960871	7168112	19595	29912											
CEACAM18	729767	broad.mit.edu	37	chr19	51983672	51983672	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcaagggatatcggactgtCgtggccctggataaggtccc	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983672C>T	ENST00000396477.4	+	2	159	c.138C>T	c.(136-138)gtC>gtT	p.V46V	CEACAM18_ENST00000451626.1_Silent_p.V107V	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)		ATCGGACTGTCGTGGCCCTGG	0.552																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(136-138)gtC>gtT		carcinoembryonic antigen-related cell adhesion molecule 18							53	51	52					19																	51983672		1998	4153	6151	SO:0001819	synonymous_variant	729767					integral to membrane		g.chr19:51983672C>T			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.138C>T	19.37:g.51983672C>T						CEACAM18_ENST00000451626.1_Silent_p.V107V	p.V46V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	159	+		all_neural(266;0.0529)	107					C9JN24	Silent	SNP	ENST00000396477.4	37	c.138C>T																																																																																					0.552	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			18	87	0	0	0	1	0	18	87					T	51983672	C	T	51983672	2	4	79	1	0	0	0	0	0	0	0	1	3198	871	31	1		1	CEACAM18	19	51983672	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22801	51983672	7145311	19596	29913											
CEACAM18	729767	broad.mit.edu	37	chr19	51983707	51983707	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctgaggatgttcaggAatacagctggtactggggtg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983707A>G	ENST00000396477.4	+	2	194	c.173A>G	c.(172-174)gAa>gGa	p.E58G	CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	58										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)		GATGTTCAGGAATACAGCTGG	0.567																																						ENST00000396477.4																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(172-174)gAa>gGa		carcinoembryonic antigen-related cell adhesion molecule 18							60	59	59					19																	51983707		2021	4182	6203	SO:0001583	missense	729767					integral to membrane		g.chr19:51983707A>G			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.173A>G	19.37:g.51983707A>G	ENSP00000379738:p.Glu58Gly					CEACAM18_ENST00000451626.1_Missense_Mutation_p.E119G	p.E58G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	194	+		all_neural(266;0.0529)	119					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.173A>G		.	.	.	.	.	.	.	.	.	.	.	0.177	-1.065486	0.01934	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.66815	-0.23	2.79	2.79	0.32731	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55337	0.1914	N	0.16130	0.375	0.09310	N	1	P	0.47106	0.89	P	0.55713	0.782	T	0.44862	-0.9300	9	0.07482	T	0.82	-6.6496	7.4747	0.27369	1.0:0.0:0.0:0.0	.	119	A8MTB9	CEA18_HUMAN	G	119;58;58	ENSP00000402203:E119G	ENSP00000379738:E58G	E	+	2	0	CEACAM18	56675519	0.029000	0.19370	0.161000	0.22692	0.065000	0.16274	0.378000	0.20569	1.567000	0.49668	0.529000	0.55759	GAA		0.567	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			4	111	0	0	0	1	0	4	111					G	51983707	A	G	51983707	3	3	79	1	0	0	0	0	1	0	0	0	3198	246	9	4	366	4	CEACAM18	19	51983707	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	51983707	7145276	19597	29914											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004877	52004877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagcacagagacacacagGccctcctgcaccgtcacgga	9	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52004877G>A	ENST00000291707.3	-	1	166	c.111C>T	c.(109-111)ggC>ggT	p.G37G	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	37	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)		AGACACACAGGCCCTCCTGCA	0.577																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(109-111)ggC>ggT		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							111	82	92					19																	52004877		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004877G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.111C>T	19.37:g.52004877G>A							p.G37G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	1	166	-		all_neural(266;0.0199)	37			Ig-like V-type 1.		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.111C>T	CCDS12833.1																																																																																				0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		52	269	0	0	0	1	0	52	269					A	52004877	G	A	52004877	2	1	79	1	0	0	0	0	0	0	0	1	14358	1190	42	2		2	SIGLEC12	19	52004877	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21170	52004877	7124106	19598	29915											
SIGLEC6	946	broad.mit.edu	37	chr19	52033991	52033991	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caccggctccagggaacgtcAcctgacaggtgaggttggtg	15	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52033991A>C	ENST00000425629.3	-	3	804	c.650T>G	c.(649-651)gTg>gGg	p.V217G	SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.V217G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	217	Ig-like C2-type 1.				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)		AGGGAACGTCACCTGACAGGT	0.662																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(649-651)gTg>gGg		sialic acid binding Ig-like lectin 6							62	69	66					19																	52033991		2202	4300	6502	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033991A>C	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.650T>G	19.37:g.52033991A>C	ENSP00000401502:p.Val217Gly					SIGLEC6_ENST00000391797.3_Missense_Mutation_p.V206G|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.V181G|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.V217G|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.V217G	p.V217G	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	718	-		all_neural(266;0.0199)	217			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.650T>G	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711806	0.30322	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	3.6	2.57	0.30868	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.33691	N	0.004643	T	0.59918	0.2229	H	0.94462	3.54	0.46609	D	0.999123	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;D;D;D	0.87578	0.995;0.998;0.991;0.991;0.995;0.995	T	0.60414	-0.7268	10	0.87932	D	0	.	5.5093	0.16872	0.8679:0.0:0.1321:0.0	.	217;181;206;217;217;217	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	G	206;217;217;217;181;217	ENSP00000401502:V217G;ENSP00000353071:V217G;ENSP00000410679:V181G;ENSP00000345907:V217G	ENSP00000345907:V217G	V	-	2	0	SIGLEC6	56725803	0.012000	0.17670	0.508000	0.27688	0.115000	0.19883	0.974000	0.29436	0.569000	0.29329	0.460000	0.39030	GTG		0.662	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		99	409	0	0	0	1	0	99	409					C	52033991	A	C	52033991	3	2	79	1	0	0	0	0	1	0	0	0	14362	159	6	4	768	4	SIGLEC6	19	52033991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29114	52033991	7094992	19599	29916											
ZNF175	7728	broad.mit.edu	37	chr19	52090174	52090174	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagaaacaacctcagaAatgttgcttatttacagaaa	5	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52090174A>G	ENST00000262259.2	+	5	948	c.590A>G	c.(589-591)aAa>aGa	p.K197R	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	197					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)		CAACCTCAGAAATGTTGCTTA	0.418																																						ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(589-591)aAa>aGa		zinc finger protein 175							89	86	87					19																	52090174		2203	4299	6502	SO:0001583	missense	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090174A>G	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.590A>G	19.37:g.52090174A>G	ENSP00000262259:p.Lys197Arg					ZNF175_ENST00000436511.2_Intron	p.K197R	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	948	+		all_neural(266;0.0299)	197					A8K9H2	Missense_Mutation	SNP	ENST00000262259.2	37	c.590A>G	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	8.124	0.781600	0.16120	.	.	ENSG00000105497	ENST00000262259	T	0.07216	3.21	2.2	-1.37	0.09056	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.40440	-0.9563	9	0.46703	T	0.11	.	3.398	0.07313	0.2846:0.0:0.1349:0.5805	.	197	Q9Y473	ZN175_HUMAN	R	197	ENSP00000262259:K197R	ENSP00000262259:K197R	K	+	2	0	ZNF175	56781986	0.000000	0.05858	0.001000	0.08648	0.728000	0.41692	-0.003000	0.12901	-0.459000	0.07013	0.533000	0.62120	AAA		0.418	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		84	404	0	0	0	1	0	84	404					G	52090174	A	G	52090174	3	3	79	1	0	0	0	0	1	0	0	0	17798	14	1	4	604	4	ZNF175	19	52090174	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	56183	52090174	7038809	19600	29917											
SIGLEC5	8778	broad.mit.edu	37	chr19	52131089	52131089	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgcccccacactcacagTaaactgagagattcagaaaa	7	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52131089T>C	ENST00000534261.2	-	6	1394	c.995A>G	c.(994-996)tAc>tGc	p.Y332C	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	332					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)		ACACTCACAGTAAACTGAGAG	0.562																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(994-996)tAc>tGc		sialic acid binding Ig-like lectin 5							23	26	25					19																	52131089		2194	4297	6491	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52131089T>C	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.995A>G	19.37:g.52131089T>C	ENSP00000473238:p.Tyr332Cys					SIGLEC5_ENST00000599649.1_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.Y332C|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.Y332C	p.Y332C			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	5	1133	-		all_neural(266;0.0726)	332						Missense_Mutation	SNP	ENST00000534261.2	37	c.995A>G	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	T	6.664	0.491118	0.12702	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.15603	2.41;2.41	3.63	-6.49	0.01890	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.34502	-0.9826	9	0.39692	T	0.17	.	5.1519	0.15015	0.5989:0.1984:0.0:0.2026	.	332	O15389	SIGL5_HUMAN	C	332	ENSP00000222107:Y332C;ENSP00000415200:Y332C	ENSP00000222107:Y332C	Y	-	2	0	SIGLEC5	56822901	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-1.955000	0.01523	-1.795000	0.01255	-0.421000	0.06004	TAC		0.562	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		52	188	0	0	0	1	0	52	188					C	52131089	T	C	52131089	3	2	79	1	0	0	0	0	1	0	0	0	14361	1638	57	4	680	4	SIGLEC5	19	52131089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	40915	52131089	6997894	19601	29918											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149521	52149521	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatacctgtcacctccAagttcagcttattctgttgg	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52149521A>G	ENST00000360844.6	-	2	451	c.410T>C	c.(409-411)tTg>tCg	p.L137S	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.L137S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	137					cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGTCACCTCCAAGTTCAGCTT	0.552																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(409-411)tTg>tCg		sialic acid binding Ig-like lectin 5							77	96	90					19																	52149521		1832	4002	5834	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52149521A>G	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.410T>C	19.37:g.52149521A>G	ENSP00000354090:p.Leu137Ser					SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L137S|SIGLEC5_ENST00000429354.3_Intron|SIGLEC14_ENST00000360844.6_Missense_Mutation_p.L137S	p.L137S			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	2	548	-		all_neural(266;0.0726)	137					Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.410T>C	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.352761	0.41700	.	.	ENSG00000105501;ENSG00000254415	ENST00000222107;ENST00000360844	T;T	0.68479	-0.33;-0.33	3.09	3.09	0.35607	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.234553	0.21568	N	0.072458	T	0.80954	0.4723	M	0.86953	2.85	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69624	-0.5095	10	0.87932	D	0	.	7.8471	0.29431	1.0:0.0:0.0:0.0	.	137	Q08ET2	SIG14_HUMAN	S	137	ENSP00000222107:L137S;ENSP00000354090:L137S	ENSP00000354090:L137S	L	-	2	0	SIGLEC5;SIGLEC14	56841333	0.000000	0.05858	0.136000	0.22124	0.031000	0.12232	0.278000	0.18753	1.429000	0.47314	0.416000	0.27883	TTG		0.552	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		29	638	0	0	0	1	0	29	638					G	52149521	A	G	52149521	3	3	79	1	0	0	0	0	1	0	0	0	14359	131	5	4	804	4	SIGLEC14	19	52149521	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18432	52149521	6979462	19602	29919											
HAS1	3036	broad.mit.edu	37	chr19	52216735	52216735	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagcctccgcacgcccAcccagtacagcgtcaacatg	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52216735A>G	ENST00000222115.1	-	5	1716	c.1682T>C	c.(1681-1683)gTg>gCg	p.V561A	HAS1_ENST00000601714.1_Missense_Mutation_p.V568A|HAS1_ENST00000540069.2_Missense_Mutation_p.V560A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	561					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)		CCGCACGCCCACCCAGTACAG	0.721																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1678-1680)gTg>gCg		hyaluronan synthase 1							12	14	13					19																	52216735		2168	4264	6432	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52216735A>G	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.1682T>C	19.37:g.52216735A>G	ENSP00000222115:p.Val561Ala					HAS1_ENST00000222115.1_Missense_Mutation_p.V561A|HAS1_ENST00000601714.1_Missense_Mutation_p.V568A	p.V560A			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1739	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	561					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1679T>C	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	a	8.664	0.901231	0.17760	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.31769	1.49;1.48	3.25	2.1	0.27182	.	0.402692	0.21754	U	0.069627	T	0.16685	0.0401	N	0.21282	0.65	0.24831	N	0.992526	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.15607	-1.0431	10	0.20046	T	0.44	-16.5581	7.6722	0.28465	0.7877:0.2123:0.0:0.0	.	560;561;560	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	A	560;561	ENSP00000445021:V560A;ENSP00000222115:V561A	ENSP00000222115:V561A	V	-	2	0	HAS1	56908547	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	5.442000	0.66575	1.484000	0.48361	0.147000	0.16070	GTG		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		10	118	0	0	0	1	0	10	118					G	52216735	A	G	52216735	3	3	79	1	0	0	0	0	1	0	0	0	6991	159	6	4	58	4	HAS1	19	52216735	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	67214	52216735	6912248	19603	29920											
HAS1	3036	broad.mit.edu	37	chr19	52217270	52217270	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccactcacggaagtAcgacttggaccagcgtgtct	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52217270A>G	ENST00000222115.1	-	5	1181	c.1147T>C	c.(1147-1149)Tac>Cac	p.Y383H	HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H|HAS1_ENST00000540069.2_Missense_Mutation_p.Y382H|HAS1_ENST00000594621.1_Missense_Mutation_p.V212A	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	383					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)		TCACGGAAGTACGACTTGGAC	0.652																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1144-1146)Tac>Cac		hyaluronan synthase 1							53	34	41					19																	52217270		2200	4299	6499	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217270A>G	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.1147T>C	19.37:g.52217270A>G	ENSP00000222115:p.Tyr383His					HAS1_ENST00000594621.1_Missense_Mutation_p.V212A|HAS1_ENST00000222115.1_Missense_Mutation_p.Y383H|HAS1_ENST00000601714.1_Missense_Mutation_p.Y390H	p.Y382H			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1204	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	383					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1144T>C	CCDS12838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	15.36|15.36	2.811727|2.811727	0.50527|0.50527	.|.	.|.	ENSG00000105509|ENSG00000105509	ENST00000376738|ENST00000540069;ENST00000222115	.|T;T	.|0.59502	.|0.26;0.26	3.22|3.22	3.22|3.22	0.36961|0.36961	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.67951|0.67951	0.2948|0.2948	M|M	0.63843|0.63843	1.955|1.955	0.52099|0.52099	D|D	0.99994|0.99994	.|D;D;D	.|0.56968	.|0.973;0.978;0.978	.|D;P;P	.|0.63877	.|0.919;0.896;0.896	T|T	0.70687|0.70687	-0.4803|-0.4803	6|10	0.87932|0.87932	D|D	0|0	-29.6232|-29.6232	9.7917|9.7917	0.40710|0.40710	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|382;383;382	.|G3V1S7;Q92839;Q8IYH3	.|.;HAS1_HUMAN;.	A|H	212|382;383	.|ENSP00000445021:Y382H;ENSP00000222115:Y383H	ENSP00000365928:V212A|ENSP00000222115:Y383H	V|Y	-|-	2|1	0|0	HAS1|HAS1	56909082|56909082	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.211000|0.211000	0.24417|0.24417	9.026000|9.026000	0.93700|0.93700	1.480000|1.480000	0.48289|0.48289	0.147000|0.147000	0.16070|0.16070	GTA|TAC		0.652	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		32	117	0	0	0	1	0	32	117					G	52217270	A	G	52217270	3	3	79	1	0	0	0	0	1	0	0	0	6991	391	14	4	593	4	HAS1	19	52217270	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	535	52217270	6911713	19604	29921											
FPR1	2357	broad.mit.edu	37	chr19	52250008	52250008	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atggccttcctgaccatgaaGaatggcaaagtggaggtgaa	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52250008G>T	ENST00000595042.1	-	3	381	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	80					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)	TGACCATGAAGAATGGCAAAG	0.512																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(238-240)ttC>ttA		formyl peptide receptor 1	Nedocromil(DB00716)						138	107	118					19																	52250008		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52250008G>T	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.240C>A	19.37:g.52250008G>T	ENSP00000471493:p.Phe80Leu					FPR1_ENST00000304748.4_Missense_Mutation_p.F80L	p.F80L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	381	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	80					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.240C>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	1.356	-0.590198	0.03799	.	.	ENSG00000171051	ENST00000304748	T	0.37235	1.21	3.72	-1.65	0.08291	GPCR, rhodopsin-like superfamily (1);	0.157463	0.41500	D	0.000871	T	0.30978	0.0782	L	0.53617	1.68	0.09310	N	0.999998	B	0.23806	0.091	B	0.38803	0.282	T	0.42616	-0.9441	10	0.08179	T	0.78	.	8.2744	0.31864	0.3968:0.0:0.6032:0.0	.	80	P21462	FPR1_HUMAN	L	80	ENSP00000302707:F80L	ENSP00000302707:F80L	F	-	3	2	FPR1	56941820	0.109000	0.22037	0.001000	0.08648	0.002000	0.02628	0.430000	0.21428	-0.301000	0.08882	-0.251000	0.11542	TTC		0.512	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		66	301	1	0	9.10829e-22	1	1.02804e-21	66	301					T	52250008	G	T	52250008	3	4	79	1	0	0	0	0	1	0	0	0	6065	933	33	3	816	3	FPR1	19	52250008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32738	52250008	6878975	19605	29922											
FPR3	2359	broad.mit.edu	37	chr19	52327369	52327369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcattgctctggaccGctgtatttgtgtcctgcatc	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52327369G>A	ENST00000339223.4	+	2	547	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	123					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTCTGGACCGCTGTATTTGT	0.478																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(367-369)cGc>cAc		formyl peptide receptor 3							92	77	82					19																	52327369		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327369G>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.368G>A	19.37:g.52327369G>A	ENSP00000341821:p.Arg123His					FPR3_ENST00000595991.1_Missense_Mutation_p.R123H	p.R123H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	547	+			123						Missense_Mutation	SNP	ENST00000339223.4	37	c.368G>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	12.15	1.850699	0.32699	.	.	ENSG00000187474	ENST00000339223	D	0.97161	-4.27	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.97297	0.9116	M	0.91406	3.205	0.32098	N	0.590994	B	0.30605	0.287	B	0.40228	0.323	D	0.99869	1.1094	10	0.56958	D	0.05	.	10.3497	0.43927	0.0:0.0:1.0:0.0	.	123	P25089	FPR3_HUMAN	H	123	ENSP00000341821:R123H	ENSP00000341821:R123H	R	+	2	0	FPR3	57019181	1.000000	0.71417	0.967000	0.41034	0.071000	0.16799	4.369000	0.59511	1.323000	0.45263	0.467000	0.42956	CGC		0.478	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		40	371	0	0	0	1	0	40	371					A	52327369	G	A	52327369	3	1	79	1	0	0	0	0	1	0	0	0	6067	1087	38	1	370	1	FPR3	19	52327369	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77361	52327369	6801614	19606	29923											
ZNF577	84765	broad.mit.edu	37	chr19	52375983	52375983	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaatggcggggttccTgaggaaggcatttctatagg	13	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52375983T>A	ENST00000301399.5	-	7	1625	c.1260A>T	c.(1258-1260)tcA>tcT	p.S420S	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Silent_p.S361S|ZNF577_ENST00000451628.2_Silent_p.S361S	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	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)			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)		GCGGGGTTCCTGAGGAAGGCA	0.433																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1081-1083)tcA>tcT		zinc finger protein 577							61	61	61					19																	52375983		2203	4300	6503	SO:0001819	synonymous_variant	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52375983T>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1260A>T	19.37:g.52375983T>A						ZNF577_ENST00000451628.2_Silent_p.S361S|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Silent_p.S420S	p.S361S			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2416	-		all_neural(266;0.0602)	420					A8K0B4|A8K6Z7|C9JFB9	Silent	SNP	ENST00000301399.5	37	c.1083A>T	CCDS12842.2																																																																																				0.433	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		61	327	0	0	0	1	0	61	327					A	52375983	T	A	52375983	2	1	79	1	0	0	0	0	0	0	0	1	18062	1567	55	5		5	ZNF577	19	52375983	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	48614	52375983	6753000	19607	29924											
ZNF577	84765	broad.mit.edu	37	chr19	52376486	52376486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctattgagccggcacttccGgctgaaggcttttccgcatt	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52376486G>A	ENST00000301399.5	-	7	1122	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000420592.1_Missense_Mutation_p.R194W|ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	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)|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)		CGGCACTTCCGGCTGAAGGCT	0.498																																						ENST00000420592.1																			0				breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(580-582)Cgg>Tgg		zinc finger protein 577							66	61	63					19																	52376486		2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52376486G>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.757C>T	19.37:g.52376486G>A	ENSP00000301399:p.Arg253Trp					ZNF577_ENST00000451628.2_Missense_Mutation_p.R194W|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.R253W	p.R194W			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1913	-		all_neural(266;0.0602)	253					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.580C>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	1.638	-0.517341	0.04171	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	3.1	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05731	0.0150	M	0.67569	2.06	0.09310	N	1	B;P	0.34837	0.097;0.472	B;B	0.18263	0.007;0.021	T	0.29971	-0.9994	9	0.32370	T	0.25	.	0.3231	0.00306	0.2893:0.1341:0.2085:0.3681	.	253;194	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	W	253;194;194;253	ENSP00000301399:R253W;ENSP00000413476:R194W;ENSP00000389652:R194W;ENSP00000404509:R253W	ENSP00000301399:R253W	R	-	1	2	ZNF577	57068298	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.151000	0.00582	-0.835000	0.04234	-0.140000	0.14226	CGG		0.498	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		50	180	0	0	0	1	0	50	180					A	52376486	G	A	52376486	3	1	79	1	0	0	0	0	1	0	0	0	18062	1115	39	1	704	1	ZNF577	19	52376486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	503	52376486	6752497	19608	29925											
ZNF649	65251	broad.mit.edu	37	chr19	52394210	52394210	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctctcctgagtgaattttCtgatgtctaatgagtcctga	8	8	3	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394210C>A	ENST00000354957.3	-	5	1463	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	ZNF577_ENST00000485702.1_5'Flank|ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTGAATTTTCTGATGTCTAA	0.443																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1177-1179)caG>caT		zinc finger protein 649							116	117	117					19																	52394210		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394210C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1179G>T	19.37:g.52394210C>A	ENSP00000347043:p.Gln393His					ZNF649_ENST00000600738.1_Missense_Mutation_p.Q365H|CTC-429C10.2_ENST00000600329.1_RNA	p.Q393H	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1463	-		all_neural(266;0.0602)	393					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1179G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	9.496	1.101881	0.20632	.	.	ENSG00000198093	ENST00000354957	T	0.18502	2.21	2.63	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13243	0.0321	L	0.48642	1.525	0.22017	N	0.99942	B	0.12013	0.005	B	0.10450	0.005	T	0.31613	-0.9937	9	0.51188	T	0.08	.	2.3609	0.04307	0.2421:0.4756:0.0:0.2823	.	393	Q9BS31	ZN649_HUMAN	H	393	ENSP00000347043:Q393H	ENSP00000347043:Q393H	Q	-	3	2	ZNF649	57086022	0.000000	0.05858	0.850000	0.33497	0.186000	0.23388	-0.279000	0.08479	0.318000	0.23185	0.404000	0.27445	CAG		0.443	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		138	586	1	0	2.06835e-67	1	2.61997e-67	138	586					A	52394210	C	A	52394210	3	1	79	1	0	0	0	0	1	0	0	0	18117	912	32	3	342	3	ZNF649	19	52394210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17724	52394210	6734773	19609	29926											
ZNF649	65251	broad.mit.edu	37	chr19	52394796	52394796	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctttcctgtatgaattCtcttatgctcagtgagctga	8	8	3	3	rs373638440		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394796C>A	ENST00000354957.3	-	5	877	c.593G>T	c.(592-594)aGa>aTa	p.R198I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGAATTCTCTTATGCTC	0.458																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(592-594)aGa>aTa		zinc finger protein 649		C	ILE/ARG	0,4406		0,0,2203	146	139	141		593	-5.1	0	19		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF649	NM_023074.3	97	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	198/506	52394796	1,13005	2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394796C>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.593G>T	19.37:g.52394796C>A	ENSP00000347043:p.Arg198Ile					ZNF649_ENST00000600738.1_Missense_Mutation_p.R198I|CTC-429C10.2_ENST00000600329.1_RNA	p.R198I	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	877	-		all_neural(266;0.0602)	198					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.593G>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836738	0.16891	0.0	1.16E-4	ENSG00000198093	ENST00000354957	T	0.24908	1.83	2.79	-5.05	0.02955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	M	0.80422	2.495	0.09310	N	1	B	0.19935	0.04	B	0.14578	0.011	T	0.47573	-0.9107	9	0.72032	D	0.01	.	0.4485	0.00497	0.267:0.3071:0.1322:0.2937	.	198	Q9BS31	ZN649_HUMAN	I	198	ENSP00000347043:R198I	ENSP00000347043:R198I	R	-	2	0	ZNF649	57086608	0.000000	0.05858	0.001000	0.08648	0.316000	0.28119	-0.963000	0.03837	-0.788000	0.04504	0.404000	0.27445	AGA		0.458	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		133	605	1	0	4.89831e-52	1	6.08832e-52	133	605					A	52394796	C	A	52394796	3	1	79	1	0	0	0	0	1	0	0	0	18117	913	32	3	928	3	ZNF649	19	52394796	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586	52394796	6734187	19610	29927											
ZNF613	79898	broad.mit.edu	37	chr19	52447542	52447542	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgacttacatgggaaaataCtgaaatcaaatttaagttta	6	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52447542C>T	ENST00000293471.6	+	6	1085	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	ZNF613_ENST00000391794.4_Silent_p.L100L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	136					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)		TGGGAAAATACTGAAATCAAA	0.343																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(406-408)Ctg>Ttg		zinc finger protein 613							68	67	67					19																	52447542		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447542C>T	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.406C>T	19.37:g.52447542C>T						ZNF613_ENST00000391794.4_Silent_p.L100L	p.L136L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1085	+		all_neural(266;0.117)	136					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.406C>T	CCDS33089.1																																																																																				0.343	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		9	286	0	0	0	1	0	9	286					T	52447542	C	T	52447542	2	4	79	1	0	0	0	0	0	0	0	1	18091	564	20	2		2	ZNF613	19	52447542	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52746	52447542	6681441	19611	29928											
ZNF613	79898	broad.mit.edu	37	chr19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgacaaagcattccGctggaaatcacagctcaatg	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	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																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1060-1062)cGc>cAc		zinc finger protein 613							97	97	97					19																	52448197		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448197G>A	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					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	p.R354H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1740	+		all_neural(266;0.117)	354					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1061G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	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		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		59	411	0	0	0	1	0	59	411					A	52448197	G	A	52448197	3	1	79	1	0	0	0	0	1	0	0	0	18091	1087	38	1	1075	1	ZNF613	19	52448197	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	655	52448197	6680786	19612	29929											
ZNF613	79898	broad.mit.edu	37	chr19	52448557	52448557	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtcaggtctcattaaccAccagagaattcacacaggag	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448557A>G	ENST00000293471.6	+	6	2100	c.1421A>G	c.(1420-1422)cAc>cGc	p.H474R	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		CTCATTAACCACCAGAGAATT	0.418																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1420-1422)cAc>cGc		zinc finger protein 613							77	71	73					19																	52448557		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448557A>G	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.1421A>G	19.37:g.52448557A>G	ENSP00000293471:p.His474Arg					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H438R	p.H474R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2100	+		all_neural(266;0.117)	474					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1421A>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	A	17.99	3.523677	0.64747	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	D;D	0.86865	-2.18;-2.18	3.36	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002058	D	0.94542	0.8242	H	0.94964	3.605	0.35510	D	0.800563	D	0.89917	1.0	D	0.91635	0.999	D	0.97054	0.9766	10	0.87932	D	0	.	11.2125	0.48806	1.0:0.0:0.0:0.0	.	474	Q6PF04	ZN613_HUMAN	R	474;438;148	ENSP00000293471:H474R;ENSP00000375671:H438R	ENSP00000293471:H474R	H	+	2	0	ZNF613	57140369	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.074000	0.64401	1.543000	0.49345	0.533000	0.62120	CAC		0.418	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		61	280	0	0	0	1	0	61	280					G	52448557	A	G	52448557	3	3	79	1	0	0	0	0	1	0	0	0	18091	159	6	4	1435	4	ZNF613	19	52448557	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	360	52448557	6680426	19613	29930											
ZNF350	59348	broad.mit.edu	37	chr19	52468200	52468200	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctgtcctgtgcaaaTcctctgttatctcctgaggc	9	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52468200T>C	ENST00000243644.4	-	5	1733	c.1506A>G	c.(1504-1506)ggA>ggG	p.G502G	HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000595010.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	502					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)		CCTGTGCAAATCCTCTGTTAT	0.453																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1504-1506)ggA>ggG		zinc finger protein 350							109	93	98					19																	52468200		2203	4300	6503	SO:0001819	synonymous_variant	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468200T>C	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.1506A>G	19.37:g.52468200T>C						HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.G502G	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1733	-		all_neural(266;0.0505)	502					Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	c.1506A>G	CCDS12845.1																																																																																				0.453	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		66	265	0	0	0	1	0	66	265					C	52468200	T	C	52468200	2	2	79	1	0	0	0	0	0	0	0	1	17916	1422	50	4		4	ZNF350	19	52468200	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19643	52468200	6660783	19614	29931											
ZNF615	284370	broad.mit.edu	37	chr19	52496865	52496865	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaagccttttccacaAtcattgcatatatatggctt	6	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496865A>C	ENST00000602063.1	-	6	1813	c.1464T>G	c.(1462-1464)gaT>gaG	p.D488E	ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E|ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	488					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		CTTTTCCACAATCATTGCATA	0.438																																						ENST00000602063.1																			0				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						c.(1462-1464)gaT>gaG		zinc finger protein 615							91	78	82					19																	52496865		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496865A>C	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.1464T>G	19.37:g.52496865A>C	ENSP00000473089:p.Asp488Glu					ZNF615_ENST00000391795.3_Missense_Mutation_p.D493E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D488E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D499E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D499E	p.D488E			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1813	-		all_neural(266;0.117)	488					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1464T>G	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	1.214	-0.628841	0.03610	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.35605	1.3;1.3	2.86	-4.11	0.03928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.02345	-0.59	0.09310	N	0.999998	B;B;B;B	0.11235	0.004;0.003;0.003;0.004	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.26087	-1.0113	9	0.02654	T	1	.	0.3509	0.00349	0.228:0.2366:0.2801:0.2553	.	493;495;499;488	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	488;498;493;498	ENSP00000365906:D488E;ENSP00000375672:D493E	ENSP00000347019:D498E	D	-	3	2	ZNF615	57188677	0.000000	0.05858	0.152000	0.22495	0.878000	0.50629	-9.482000	0.00011	-1.000000	0.03438	0.402000	0.26972	GAT		0.438	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		64	207	0	0	0	1	0	64	207					C	52496865	A	C	52496865	3	2	79	1	0	0	0	0	1	0	0	0	18093	98	4	4	735	4	ZNF615	19	52496865	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	28665	52496865	6632118	19615	29932											
ZNF615	284370	broad.mit.edu	37	chr19	52496964	52496964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacattcggtgcatacataGggtttctctccagtatgtgt	10	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496964G>A	ENST00000602063.1	-	6	1714	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P	ZNF615_ENST00000598071.1_Silent_p.P466P|ZNF615_ENST00000594083.1_Silent_p.P466P|ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		TGCATACATAGGGTTTCTCTC	0.428																																						ENST00000602063.1																			0				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						c.(1363-1365)ccC>ccT		zinc finger protein 615							98	81	87					19																	52496964		2203	4300	6503	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52496964G>A	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.1365C>T	19.37:g.52496964G>A						ZNF615_ENST00000391795.3_Silent_p.P460P|ZNF615_ENST00000376716.5_Silent_p.P455P|ZNF615_ENST00000598071.1_Silent_p.P466P|ZNF615_ENST00000594083.1_Silent_p.P466P	p.P455P			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1714	-		all_neural(266;0.117)	455					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1365C>T	CCDS12846.1																																																																																				0.428	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		52	223	0	0	0	1	0	52	223					A	52496964	G	A	52496964	2	1	79	1	0	0	0	0	0	0	0	1	18093	987	35	2		2	ZNF615	19	52496964	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99	52496964	6632019	19616	29933											
ZNF615	284370	broad.mit.edu	37	chr19	52497170	52497170	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtttgctgatgtgtgataaGactgttcttcaaggtgaagc	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497170G>T	ENST00000602063.1	-	6	1508	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I|ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		TGTGTGATAAGACTGTTCTTC	0.398																																						ENST00000602063.1																			0				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						c.(1159-1161)Ctt>Att		zinc finger protein 615							96	90	92					19																	52497170		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497170G>T	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.1159C>A	19.37:g.52497170G>T	ENSP00000473089:p.Leu387Ile					ZNF615_ENST00000391795.3_Missense_Mutation_p.L392I|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387I|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398I|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398I	p.L387I			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1508	-		all_neural(266;0.117)	387					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1159C>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004858	0.54254	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.53857	0.6;0.6	3.26	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75852	0.3906	M	0.88450	2.955	0.29985	N	0.817342	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74390	-0.3681	9	0.87932	D	0	.	13.7922	0.63148	0.0:0.0:1.0:0.0	.	392;394;398;387	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	I	387;397;392;397	ENSP00000365906:L387I;ENSP00000375672:L392I	ENSP00000347019:L397I	L	-	1	0	ZNF615	57188982	0.285000	0.24296	0.284000	0.24805	0.778000	0.44026	2.867000	0.48428	1.797000	0.52628	0.650000	0.86243	CTT		0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		83	340	1	0	1.10345e-40	1	1.33888e-40	83	340					T	52497170	G	T	52497170	3	4	79	1	0	0	0	0	1	0	0	0	18093	942	33	3	1040	3	ZNF615	19	52497170	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	206	52497170	6631813	19617	29934											
ZNF615	284370	broad.mit.edu	37	chr19	52497300	52497300	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcactacatatataAggtttttctcctgtatgagt	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497300A>C	ENST00000602063.1	-	6	1378	c.1029T>G	c.(1027-1029)ccT>ccG	p.P343P	ZNF615_ENST00000598071.1_Silent_p.P354P|ZNF615_ENST00000594083.1_Silent_p.P354P|ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000376716.5_Silent_p.P343P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		TACATATATAAGGTTTTTCTC	0.403																																						ENST00000602063.1																			0				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						c.(1027-1029)ccT>ccG		zinc finger protein 615							82	88	86					19																	52497300		2203	4299	6502	SO:0001819	synonymous_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497300A>C	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.1029T>G	19.37:g.52497300A>C						ZNF615_ENST00000391795.3_Silent_p.P348P|ZNF615_ENST00000376716.5_Silent_p.P343P|ZNF615_ENST00000598071.1_Silent_p.P354P|ZNF615_ENST00000594083.1_Silent_p.P354P	p.P343P			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1378	-		all_neural(266;0.117)	343					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	ENST00000602063.1	37	c.1029T>G	CCDS12846.1																																																																																				0.403	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		108	456	0	0	0	1	0	108	456					C	52497300	A	C	52497300	2	2	79	1	0	0	0	0	0	0	0	1	18093	59	3	4		4	ZNF615	19	52497300	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	130	52497300	6631683	19618	29935											
ZNF614	80110	broad.mit.edu	37	chr19	52519953	52519953	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgagcaattagatagcGcttcattgtaaagccctttc	8	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52519953G>A	ENST00000270649.6	-	5	1442	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	300					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)		ATTAGATAGCGCTTCATTGTA	0.408																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(898-900)Cgc>Tgc		zinc finger protein 614							120	107	112					19																	52519953		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519953G>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.898C>T	19.37:g.52519953G>A	ENSP00000270649:p.Arg300Cys					ZNF614_ENST00000356322.6_Intron	p.R300C	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1442	-		all_neural(266;0.0505)	300					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.898C>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920886	0.17982	.	.	ENSG00000142556	ENST00000270649	T	0.15487	2.42	3.85	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.39514	1.22	0.09310	N	1	D	0.62365	0.991	P	0.48654	0.585	T	0.18745	-1.0327	9	0.59425	D	0.04	.	0.7601	0.01005	0.284:0.2795:0.2808:0.1557	.	300	Q8N883	ZN614_HUMAN	C	300	ENSP00000270649:R300C	ENSP00000270649:R300C	R	-	1	0	ZNF614	57211765	0.000000	0.05858	0.074000	0.20217	0.993000	0.82548	-0.955000	0.03869	0.290000	0.22444	0.655000	0.94253	CGC		0.408	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		95	495	0	0	0	1	0	95	495					A	52519953	G	A	52519953	3	1	79	1	0	0	0	0	1	0	0	0	18092	1087	38	1	863	1	ZNF614	19	52519953	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22653	52519953	6609030	19619	29936											
ZNF614	80110	broad.mit.edu	37	chr19	52520505	52520505	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggaaaatgtgtcttgctgaGatgtacaatatttctaagtg	10	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52520505G>T	ENST00000270649.6	-	5	890	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	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)|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)		GTCTTGCTGAGATGTACAATA	0.358																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(346-348)Ctc>Atc		zinc finger protein 614							93	88	90					19																	52520505		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520505G>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.346C>A	19.37:g.52520505G>T	ENSP00000270649:p.Leu116Ile					ZNF614_ENST00000356322.6_Missense_Mutation_p.L116I	p.L116I	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	890	-		all_neural(266;0.0505)	116					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.346C>A	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	3.983	-0.005997	0.07773	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.07688	5.93;3.17	2.58	0.269	0.15631	.	.	.	.	.	T	0.04272	0.0118	L	0.27053	0.805	0.20196	N	0.999921	P;P	0.44195	0.828;0.69	B;B	0.36289	0.221;0.109	T	0.38457	-0.9660	9	0.23302	T	0.38	.	3.6231	0.08103	0.1561:0.263:0.5809:0.0	.	116;116	Q8N883;Q9BSN8	ZN614_HUMAN;.	I	116	ENSP00000348674:L116I;ENSP00000270649:L116I	ENSP00000270649:L116I	L	-	1	0	ZNF614	57212317	0.000000	0.05858	0.025000	0.17156	0.017000	0.09413	-0.340000	0.07821	0.145000	0.18977	0.591000	0.81541	CTC		0.358	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		51	220	1	0	3.10996e-30	1	3.64561e-30	51	220					T	52520505	G	T	52520505	3	4	79	1	0	0	0	0	1	0	0	0	18092	942	33	3	1415	3	ZNF614	19	52520505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	552	52520505	6608478	19620	29937											
ZNF432	9668	broad.mit.edu	37	chr19	52550105	52550105	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaatagagaaaaagtcAcctgggcattgatcattttc	7	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52550105A>G	ENST00000594154.1	-	2	228		c.e2+1		ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000598446.1_5'Flank|ZNF432_ENST00000597273.1_Splice_Site			O94892	ZN432_HUMAN	zinc finger protein 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGAAAAAGTCACCTGGGCATT	0.363																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.e2+1		zinc finger protein 432							86	78	81					19																	52550105		2203	4300	6503	SO:0001630	splice_region_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52550105A>G	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"Zinc fingers, C2H2-type", "-"	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.15+1T>C	19.37:g.52550105A>G						ZNF432_ENST00000221315.5_Splice_Site|ZNF432_ENST00000597273.1_Splice_Site				O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	2	228	-		all_neural(266;0.117)							Splice_Site	SNP	ENST00000594154.1	37		CCDS12848.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614332	0.28712	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.8	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4475	0.27219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF432	57241917	0.993000	0.37304	0.933000	0.37362	0.574000	0.36063	2.304000	0.43655	1.508000	0.48769	0.496000	0.49642	.		0.363	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	Intron	37	173	0	0	0	1	0	37	173					G	52550105	A	G	52550105	5	3	79	1	0	0	0	0	0	0	1	0	17959	173	6	4	1957	4	ZNF432	19	52550105	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	29600	52550105	6578878	19621	29938											
ZNF841	284371	broad.mit.edu	37	chr19	52568529	52568529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtttttcactagaatgaattCgttggtgtttagtgaggcaa	11	4	1	3	rs535615577		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52568529C>T	ENST00000426391.2	-	5	2809	c.2258G>A	c.(2257-2259)cGa>cAa	p.R753Q	ZNF841_ENST00000389534.4_Missense_Mutation_p.R869Q|ZNF841_ENST00000594295.1_Missense_Mutation_p.R869Q|ZNF432_ENST00000598446.1_Intron|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000359973.2_Missense_Mutation_p.R445Q			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	753					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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						AGAATGAATTCGTTGGTGTTT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20160	0.001		0.0	False		,,,				2504	0.0					ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(2605-2607)cGa>cAa		zinc finger protein 841							185	157	165					19																	52568529		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568529C>T	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2258G>A	19.37:g.52568529C>T	ENSP00000415453:p.Arg753Gln					ZNF841_ENST00000359973.2_Missense_Mutation_p.R445Q|ZNF841_ENST00000594295.1_Missense_Mutation_p.R869Q|ZNF841_ENST00000426391.2_Missense_Mutation_p.R753Q|ZNF432_ENST00000598446.1_Intron	p.R869Q	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	3065	-			753					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.2606G>A		.	.	.	.	.	.	.	.	.	.	C	10.92	1.485949	0.26686	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.24723	1.84;1.84;1.84	1.66	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34279	0.0892	L	0.61036	1.89	0.09310	N	1	P;D;P	0.69078	0.705;0.997;0.616	B;P;B	0.56127	0.068;0.792;0.058	T	0.19192	-1.0313	9	0.72032	D	0.01	.	5.1842	0.15176	0.0:0.4601:0.3968:0.1431	.	869;445;753	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	Q	869;753;445	ENSP00000374185:R869Q;ENSP00000415453:R753Q;ENSP00000353060:R445Q	ENSP00000353060:R445Q	R	-	2	0	ZNF841	57260341	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.150000	0.01290	-0.436000	0.07254	-0.502000	0.04539	CGA		0.423	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		29	108	0	0	0	1	0	29	108					T	52568529	C	T	52568529	3	4	79	1	0	0	0	0	1	0	0	0	18242	884	31	1	172	1	ZNF841	19	52568529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18424	52568529	6560454	19622	29939											
ZNF616	90317	broad.mit.edu	37	chr19	52618157	52618157	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctgagcgacaaataaAagatttcccacactcattac	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618157A>C	ENST00000600228.1	-	4	2521	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	754					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGACAAATAAAAGATTTCCCA	0.408																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2260-2262)Ttt>Gtt		zinc finger protein 616							136	130	132					19																	52618157		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618157A>C	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.2260T>G	19.37:g.52618157A>C	ENSP00000471000:p.Phe754Val					ZNF616_ENST00000330123.5_3'UTR	p.F754V	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2521	-			754					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2260T>G	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	A	9.284	1.048981	0.19827	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79913	0.4528	H	0.98351	4.21	0.09310	N	0.999998	D	0.69078	0.997	D	0.87578	0.998	T	0.66571	-0.5890	8	0.87932	D	0	.	6.943	0.24502	0.7646:0.2354:0.0:0.0	.	754	Q08AN1	ZN616_HUMAN	V	754	.	ENSP00000328722:F754V	F	-	1	0	ZNF616	57309969	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	1.690000	0.37711	0.036000	0.15547	-0.636000	0.03981	TTT		0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		101	362	0	0	0	1	0	101	362					C	52618157	A	C	52618157	3	2	79	1	0	0	0	0	1	0	0	0	18094	14	1	4	89	4	ZNF616	19	52618157	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49628	52618157	6510826	19623	29940											
ZNF616	90317	broad.mit.edu	37	chr19	52618727	52618727	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattctccgatgcactgtaaGacgtgaacattgactgaaga	9	8	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618727G>T	ENST00000600228.1	-	4	1951	c.1690C>A	c.(1690-1692)Ctt>Att	p.L564I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGCACTGTAAGACGTGAACAT	0.443																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1690-1692)Ctt>Att		zinc finger protein 616							115	102	106					19																	52618727		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618727G>T	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.1690C>A	19.37:g.52618727G>T	ENSP00000471000:p.Leu564Ile					ZNF616_ENST00000330123.5_3'UTR	p.L564I	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1951	-			564					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1690C>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739390	0.30774	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.24	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65196	0.2668	M	0.89030	3	0.09310	N	1	D	0.69078	0.997	D	0.79784	0.993	T	0.53995	-0.8359	8	0.72032	D	0.01	.	2.527	0.04694	0.3208:0.0:0.4485:0.2307	.	564	Q08AN1	ZN616_HUMAN	I	564	.	ENSP00000328722:L564I	L	-	1	0	ZNF616	57310539	0.048000	0.20356	0.000000	0.03702	0.038000	0.13279	0.316000	0.19469	-0.339000	0.08401	-0.350000	0.07774	CTT		0.443	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		8	378	1	0	0.00307968	1	0.00310409	8	378					T	52618727	G	T	52618727	3	4	79	1	0	0	0	0	1	0	0	0	18094	942	33	3	659	3	ZNF616	19	52618727	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	570	52618727	6510256	19624	29941											
ZNF616	90317	broad.mit.edu	37	chr19	52619913	52619913	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacaaccattattacctgtCttctccgtttcattacattc	2	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52619913C>A	ENST00000600228.1	-	4	765	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		TATTACCTGTCTTCTCCGTTT	0.373																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(502-504)aaG>aaT		zinc finger protein 616							161	150	154					19																	52619913		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619913C>A	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.504G>T	19.37:g.52619913C>A	ENSP00000471000:p.Lys168Asn					ZNF616_ENST00000330123.5_3'UTR	p.K168N	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	765	-			168					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.504G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	6.274	0.418606	0.11870	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	0.48	0.16804	.	.	.	.	.	T	0.46054	0.1373	M	0.82823	2.61	0.09310	N	1	P	0.41450	0.75	B	0.43360	0.417	T	0.40136	-0.9579	8	0.56958	D	0.05	.	4.9941	0.14230	0.0:0.6544:0.0:0.3456	.	168	Q08AN1	ZN616_HUMAN	N	168	.	ENSP00000328722:K168N	K	-	3	2	ZNF616	57311725	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.389000	0.02530	0.029000	0.15352	0.305000	0.20034	AAG		0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		53	560	1	0	1.08114e-33	1	1.28246e-33	53	560					A	52619913	C	A	52619913	3	1	79	1	0	0	0	0	1	0	0	0	18094	912	32	3	1845	3	ZNF616	19	52619913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1186	52619913	6509070	19625	29942											
ZNF836	162962	broad.mit.edu	37	chr19	52658722	52658722	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatgccttctctgatggtaCgtcaggcctgttatatgact	10	9	2	2	rs139619574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658722C>T	ENST00000322146.8	-	5	2735	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.T738T	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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						TCTGATGGTACGTCAGGCCTG	0.418													c|||	3	0.000599042	0.0015	0.0	5008	,	,		20531	0.0		0.001	False		,,,				2504	0.0					ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2212-2214)acG>acA		zinc finger protein 836		C		1,4239		0,1,2119	82	85	84		2214	-4.2	0	19	dbSNP_134	84	0,8494		0,0,4247	no	coding-synonymous	ZNF836	NM_001102657.1		0,1,6366	TT,TC,CC		0.0,0.0236,0.0079		738/937	52658722	1,12733	2120	4247	6367	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658722C>T	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.2214G>A	19.37:g.52658722C>T						ZNF836_ENST00000597252.1_Silent_p.T738T|CTC-471J1.8_ENST00000594362.1_RNA	p.T738T	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2735	-			738						Silent	SNP	ENST00000322146.8	37	c.2214G>A	CCDS46162.1																																																																																				0.418	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		26	255	0	0	0	1	0	26	255					T	52658722	C	T	52658722	2	4	79	1	0	0	0	0	0	0	0	1	18240	523	19	1		1	ZNF836	19	52658722	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38809	52658722	6470261	19626	29943											
ZNF836	162962	broad.mit.edu	37	chr19	52658887	52658887	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatgaattatcagatgTttagtgaggcttgaacgctg	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658887T>C	ENST00000322146.8	-	5	2570	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Silent_p.K683K	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	683					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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						TTATCAGATGTTTAGTGAGGC	0.388																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2047-2049)aaA>aaG		zinc finger protein 836							83	90	88					19																	52658887		2135	4257	6392	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52658887T>C	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.2049A>G	19.37:g.52658887T>C						ZNF836_ENST00000597252.1_Silent_p.K683K|CTC-471J1.8_ENST00000594362.1_RNA	p.K683K	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2570	-			683						Silent	SNP	ENST00000322146.8	37	c.2049A>G	CCDS46162.1																																																																																				0.388	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		93	395	0	0	0	1	0	93	395					C	52658887	T	C	52658887	2	2	79	1	0	0	0	0	0	0	0	1	18240	1722	60	4		4	ZNF836	19	52658887	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	165	52658887	6470096	19627	29944											
PPP2R1A	5518	broad.mit.edu	37	chr19	52729015	52729015	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcctagagaagctgacccaGgaccaggatgtggacgtcaa	12	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52729015G>T	ENST00000322088.6	+	14	1765	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	CTD-2525I3.3_ENST00000599125.1_RNA|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	569	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)		AGCTGACCCAGGACCAGGATG	0.567			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				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						c.(1705-1707)caG>caT		protein phosphatase 2, regulatory subunit A, alpha							143	139	140					19																	52729015		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52729015G>T		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.1707G>T	19.37:g.52729015G>T	ENSP00000324804:p.Gln569His					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q514H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q390H|CTD-2525I3.3_ENST00000593857.1_RNA	p.Q569H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	14	1765	+			569			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1707G>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080854	0.36758	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.33438	1.41;2.36	4.33	4.33	0.51752	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000048	T	0.25082	0.0609	L	0.45228	1.405	0.46927	D	0.999252	B;B	0.10296	0.002;0.003	B;B	0.10450	0.003;0.005	T	0.09530	-1.0670	10	0.62326	D	0.03	-26.7592	8.3321	0.32193	0.1055:0.0:0.8945:0.0	.	514;569	F5H3X9;P30153	.;2AAA_HUMAN	H	559;489;569;136;514	ENSP00000324804:Q569H;ENSP00000415067:Q514H	ENSP00000324804:Q569H	Q	+	3	2	PPP2R1A	57420827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.085000	0.30840	2.413000	0.81919	0.650000	0.86243	CAG		0.567	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		94	416	1	0	5.82527e-40	1	7.05318e-40	94	416					T	52729015	G	T	52729015	3	4	79	1	0	0	0	0	1	0	0	0	12429	991	35	3	1761	3	PPP2R1A	19	52729015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70128	52729015	6399968	19628	29945											
ZNF480	147657	broad.mit.edu	37	chr19	52819145	52819145	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaaggagggagccctgGtctggtgagagtgaagtgaa	18	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52819145G>A	ENST00000595962.1	+	4	324	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Intron|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGGAGCCCTGGTCTGGTGAGA	0.443																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(256-258)tgG>tgA		zinc finger protein 480							77	72	74					19																	52819145		2203	4300	6503	SO:0001587	stop_gained	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52819145G>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.258G>A	19.37:g.52819145G>A	ENSP00000471754:p.Trp86*					ZNF480_ENST00000335090.6_Nonsense_Mutation_p.W9*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000334564.7_Intron	p.W86*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	4	324	+			86			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	c.258G>A	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172166	0.38315	.	.	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000335090	.	.	.	2.03	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5407	0.27737	0.0:0.0:1.0:0.0	.	.	.	.	X	108;86;9	.	ENSP00000335670:W9X	W	+	3	0	ZNF480	57510957	0.041000	0.20044	0.005000	0.12908	0.004000	0.04260	2.735000	0.47377	1.136000	0.42199	0.539000	0.68188	TGG		0.443	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		7	242	0	0	0	1	0	7	242					A	52819145	G	A	52819145	4	1	79	1	0	0	0	0	0	1	0	0	17988	1270	44	2	268	2	ZNF480	19	52819145	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90130	52819145	6309838	19629	29946											
ZNF480	147657	broad.mit.edu	37	chr19	52825079	52825079	+	Missense_Mutation	SNP	A	A	C													gattcttcatttctcccacaAgaacagaaagtacaccttag					rs149769756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825079A>C	ENST00000595962.1	+	5	642	c.576A>C	c.(574-576)caA>caC	p.Q192H	ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCCCACAAGAACAGAAAG	0.358																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(574-576)caA>caC		zinc finger protein 480							84	85	85					19																	52825079		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825079A>C	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.576A>C	19.37:g.52825079A>C	ENSP00000471754:p.Gln192His					ZNF480_ENST00000335090.6_Missense_Mutation_p.Q115H|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.Q149H	p.Q192H	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	642	+			192					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.576A>C	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247096	0.22796	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.28895	1.59;3.28;3.12	1.99	-2.69	0.06022	.	.	.	.	.	T	0.26484	0.0647	L	0.48218	1.51	0.09310	N	1	B;D	0.62365	0.191;0.991	B;P	0.49012	0.093;0.598	T	0.08889	-1.0700	9	0.45353	T	0.12	.	2.2863	0.04127	0.4394:0.0:0.3282:0.2324	.	149;192	F8WEZ9;Q8WV37	.;ZN480_HUMAN	H	192;149;115	ENSP00000417424:Q192H;ENSP00000334164:Q149H;ENSP00000335670:Q115H	ENSP00000334164:Q149H	Q	+	3	2	ZNF480	57516891	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.832000	0.04400	-1.193000	0.02688	-1.645000	0.00762	CAA		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		39	395	0	0	0	1	0	39	395					C	52825079	A	C	52825079	3	2	79	1	0	0	0	0	1	0	0	0	17988	69	3	4	590	4	ZNF480	19	52825079	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5934	52825079	6303904	19630	29947	194	2									
ZNF480	147657	broad.mit.edu	37	chr19	52825080	52825080	+	Nonsense_Mutation	SNP	G	G	T													attcttcatttctcccacaaGaacagaaagtacaccttaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825080G>T	ENST00000595962.1	+	5	643	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCTCCCACAAGAACAGAAAGT	0.363																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(577-579)Gaa>Taa		zinc finger protein 480							84	86	85					19																	52825080		2203	4300	6503	SO:0001587	stop_gained	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825080G>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.577G>T	19.37:g.52825080G>T	ENSP00000471754:p.Glu193*					ZNF480_ENST00000335090.6_Nonsense_Mutation_p.E116*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.E150*	p.E193*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	643	+			193					Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	c.577G>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649274	0.29336	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	1.99	-0.868	0.10652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.0554	0.09814	0.0:0.2636:0.468:0.2684	.	.	.	.	X	193;150;116	.	ENSP00000334164:E150X	E	+	1	0	ZNF480	57516892	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.292000	0.02772	-0.275000	0.09219	0.467000	0.42956	GAA		0.363	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		38	394	1	0	3.30226e-22	1	3.73289e-22	38	394					T	52825080	G	T	52825080	4	4	79	1	0	0	0	0	0	1	0	0	17988	943	33	3	591	3	ZNF480	19	52825080	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1	52825080	6303903	19631	29948	194	2									
ZNF480	147657	broad.mit.edu	37	chr19	52825103	52825103	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagtacaccttagagaAaaaccttatgaatgtaatga	7	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825103A>G	ENST00000595962.1	+	5	666	c.600A>G	c.(598-600)gaA>gaG	p.E200E	ZNF480_ENST00000335090.6_Silent_p.E123E|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.E157E|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACCTTAGAGAAAAACCTTATG	0.338																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(598-600)gaA>gaG		zinc finger protein 480							81	84	83					19																	52825103		2203	4300	6503	SO:0001819	synonymous_variant	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825103A>G	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.600A>G	19.37:g.52825103A>G						ZNF480_ENST00000335090.6_Silent_p.E123E|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Silent_p.E157E	p.E200E	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	666	+			200					Q5JPG9|Q6P0Q4|Q8N1M5	Silent	SNP	ENST00000595962.1	37	c.600A>G	CCDS12850.2																																																																																				0.338	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		41	371	0	0	0	1	0	41	371					G	52825103	A	G	52825103	2	3	79	1	0	0	0	0	0	0	0	1	17988	11	1	4		4	ZNF480	19	52825103	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	23	52825103	6303880	19632	29949											
ZNF480	147657	broad.mit.edu	37	chr19	52825188	52825188	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatccatactgtagagAaaccttacaaatgtaattca	5	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825188A>C	ENST00000595962.1	+	5	751	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TACTGTAGAGAAACCTTACAA	0.358																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(685-687)Aaa>Caa		zinc finger protein 480							55	56	56					19																	52825188		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825188A>C	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.685A>C	19.37:g.52825188A>C	ENSP00000471754:p.Lys229Gln					ZNF480_ENST00000335090.6_Missense_Mutation_p.K152Q|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Missense_Mutation_p.K186Q	p.K229Q	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	751	+			229					Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.685A>C	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852413	0.32699	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.27104	1.69;1.69;1.69	1.99	1.99	0.26369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43344	0.1243	M	0.88031	2.925	0.23542	N	0.997456	D;P	0.57257	0.979;0.638	P;B	0.51777	0.679;0.15	T	0.32214	-0.9915	9	0.87932	D	0	.	7.566	0.27879	1.0:0.0:0.0:0.0	.	186;229	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	229;186;152	ENSP00000417424:K229Q;ENSP00000334164:K186Q;ENSP00000335670:K152Q	ENSP00000334164:K186Q	K	+	1	0	ZNF480	57517000	0.333000	0.24731	0.044000	0.18714	0.055000	0.15305	2.755000	0.47540	0.894000	0.36317	0.383000	0.25322	AAA		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		65	277	0	0	0	1	0	65	277					C	52825188	A	C	52825188	3	2	79	1	0	0	0	0	1	0	0	0	17988	247	9	4	699	4	ZNF480	19	52825188	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	85	52825188	6303795	19633	29950											
ZNF480	147657	broad.mit.edu	37	chr19	52825413	52825413	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaataattcttaccttgcaCgacatcaaagaattcatgct	5	9	3	1	rs201847817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825413C>T	ENST00000595962.1	+	5	976	c.910C>T	c.(910-912)Cga>Tga	p.R304*	ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTACCTTGCACGACATCAAAG	0.348																																						ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(910-912)Cga>Tga		zinc finger protein 480							62	67	65					19																	52825413		2203	4300	6503	SO:0001587	stop_gained	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825413C>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.910C>T	19.37:g.52825413C>T	ENSP00000471754:p.Arg304*					ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R227*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R261*	p.R304*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	976	+			304					Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	c.910C>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749100	0.30955	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.34	-4.69	0.03299	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	6.7913	0.23701	0.2683:0.5136:0.218:0.0	.	.	.	.	X	304;261;227	.	ENSP00000334164:R261X	R	+	1	2	ZNF480	57517225	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.847000	0.00351	-1.043000	0.03258	-0.499000	0.04595	CGA		0.348	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		15	317	0	0	0	1	0	15	317					T	52825413	C	T	52825413	4	4	79	1	0	0	0	0	0	1	0	0	17988	528	19	1	924	1	ZNF480	19	52825413	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	225	52825413	6303570	19634	29951											
ZNF880	400713	broad.mit.edu	37	chr19	52887625	52887625	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagagaatacatactggAgagaaaccttacaaatgtca	7	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52887625A>G	ENST00000422689.2	+	4	807	c.792A>G	c.(790-792)ggA>ggG	p.G264G		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	264					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						TACATACTGGAGAGAAACCTT	0.398																																						ENST00000422689.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						c.(790-792)ggA>ggG		zinc finger protein 880							44	42	43					19																	52887625		1568	3582	5150	SO:0001819	synonymous_variant	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887625A>G	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.792A>G	19.37:g.52887625A>G							p.G264G	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN			4	807	+			264					B4DNA6	Silent	SNP	ENST00000422689.2	37	c.792A>G	CCDS46164.1																																																																																				0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1	NM_001145434		37	131	0	0	0	1	0	37	131					G	52887625	A	G	52887625	2	3	79	1	0	0	0	0	0	0	0	1	18250	291	11	4		4	ZNF880	19	52887625	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	62212	52887625	6241358	19635	29952											
ZNF528	84436	broad.mit.edu	37	chr19	52918959	52918959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagcagttcaaagcttgCacaacatcaaagaattcata	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52918959C>T	ENST00000360465.3	+	7	1280	c.854C>T	c.(853-855)gCa>gTa	p.A285V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGCTTGCACAACATCAA	0.368																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(853-855)gCa>gTa		zinc finger protein 528							91	96	94					19																	52918959		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918959C>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.854C>T	19.37:g.52918959C>T	ENSP00000353652:p.Ala285Val					ZNF528_ENST00000391788.2_3'UTR	p.A285V	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1280	+			285					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.854C>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	5.309	0.242377	0.10077	.	.	ENSG00000167555	ENST00000360465	T	0.36520	1.25	1.99	-3.97	0.04094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.21617	0.685	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.16070	-1.0415	9	0.26408	T	0.33	.	6.4275	0.21778	0.1437:0.564:0.0:0.2923	.	285	Q3MIS6	ZN528_HUMAN	V	285	ENSP00000353652:A285V	ENSP00000353652:A285V	A	+	2	0	ZNF528	57610771	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.317000	0.02707	-1.826000	0.01205	-1.564000	0.00881	GCA		0.368	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		75	397	0	0	0	1	0	75	397					T	52918959	C	T	52918959	3	4	79	1	0	0	0	0	1	0	0	0	18022	710	25	2	868	2	ZNF528	19	52918959	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31334	52918959	6210024	19636	29953											
ZNF528	84436	broad.mit.edu	37	chr19	52919388	52919388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcagaccttatacgacatcGaaaaactcatactgatgaga	6	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52919388G>A	ENST00000360465.3	+	7	1709	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATACGACATCGAAAAACTCAT	0.398																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1282-1284)cGa>cAa		zinc finger protein 528							75	76	76					19																	52919388		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919388G>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1283G>A	19.37:g.52919388G>A	ENSP00000353652:p.Arg428Gln					ZNF528_ENST00000391788.2_3'UTR	p.R428Q	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1709	+			428					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1283G>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484420	0.01027	.	.	ENSG00000167555	ENST00000360465	T	0.36878	1.23	1.97	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	N	0.16066	0.365	0.09310	N	1	B	0.32573	0.376	B	0.16289	0.015	T	0.27673	-1.0067	9	0.02654	T	1	.	2.9264	0.05786	0.557:0.0:0.2562:0.1869	.	428	Q3MIS6	ZN528_HUMAN	Q	428	ENSP00000353652:R428Q	ENSP00000353652:R428Q	R	+	2	0	ZNF528	57611200	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.143000	0.10296	-1.027000	0.03325	-1.087000	0.02190	CGA		0.398	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		61	312	0	0	0	1	0	61	312					A	52919388	G	A	52919388	3	1	79	1	0	0	0	0	1	0	0	0	18022	1058	37	1	1297	1	ZNF528	19	52919388	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	429	52919388	6209595	19637	29954											
ZNF534	147658	broad.mit.edu	37	chr19	52941324	52941324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaagccttactaaccGtcaagtaatccacattgcag	6	12	3	0	rs151189562	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52941324G>A	ENST00000332323.6	+	4	711	c.650G>A	c.(649-651)cGt>cAt	p.R217H	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTACTAACCGTCAAGTAATC	0.388													g|||	2	0.000399361	0.0015	0.0	5008	,	,		20301	0.0		0.0	False		,,,				2504	0.0					ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(649-651)cGt>cAt		zinc finger protein 534		G	HIS/ARG,HIS/ARG	2,3134		0,2,1566	102	90	94		611,650	0.5	0	19	dbSNP_134	94	0,7164		0,0,3582	no	missense,missense	ZNF534	NM_001143938.1,NM_001143939.1	29,29	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,benign	204/662,217/675	52941324	2,10298	1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941324G>A	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.650G>A	19.37:g.52941324G>A	ENSP00000327538:p.Arg217His					ZNF534_ENST00000433050.1_Missense_Mutation_p.R204H|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	p.R217H	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	711	+			217					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.650G>A	CCDS46165.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.005	-2.209788	0.00292	6.38E-4	0.0	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.04551	3.6;3.6	1.63	0.516	0.17019	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00552	0.0018	N	0.00005	-3.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45977	-0.9224	9	0.02654	T	1	.	3.1434	0.06463	0.5952:0.2428:0.162:0.0	.	204;217	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	217;204;216	ENSP00000327538:R217H;ENSP00000391358:R204H	ENSP00000327538:R217H	R	+	2	0	ZNF534	57633136	0.249000	0.23941	0.001000	0.08648	0.001000	0.01503	1.750000	0.38329	-0.089000	0.12484	-0.606000	0.04082	CGT		0.388	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		69	236	0	0	0	1	0	69	236					A	52941324	G	A	52941324	3	1	79	1	0	0	0	0	1	0	0	0	18026	1145	40	1	664	1	ZNF534	19	52941324	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21936	52941324	6187659	19638	29955											
ZNF534	147658	broad.mit.edu	37	chr19	52942497	52942497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcggaattcacaccttgcgcGacataggaaaattcatactg	8	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52942497G>A	ENST00000332323.6	+	4	1884	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACCTTGCGCGACATAGGAAA	0.418																																						ENST00000332323.6																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1822-1824)cGa>cAa		zinc finger protein 534							45	43	44					19																	52942497		692	1591	2283	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942497G>A	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.1823G>A	19.37:g.52942497G>A	ENSP00000327538:p.Arg608Gln					ZNF534_ENST00000433050.1_Missense_Mutation_p.R595Q|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	p.R608Q	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN			4	1884	+			608					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.1823G>A	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	g	3.181	-0.167843	0.06461	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.26223	1.75;1.75	1.72	-3.44	0.04796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08582	0.0213	N	0.25144	0.715	0.09310	N	1	P;P	0.38250	0.571;0.624	B;B	0.17979	0.012;0.02	T	0.33189	-0.9878	9	0.12766	T	0.61	.	3.2751	0.06896	0.2522:0.0:0.3274:0.4205	.	595;608	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	Q	608;595;607	ENSP00000327538:R608Q;ENSP00000391358:R595Q	ENSP00000327538:R608Q	R	+	2	0	ZNF534	57634309	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-9.259000	0.00012	-0.948000	0.03668	0.405000	0.27470	CGA		0.418	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		9	37	0	0	0	1	0	9	37					A	52942497	G	A	52942497	3	1	79	1	0	0	0	0	1	0	0	0	18026	1058	37	1	1837	1	ZNF534	19	52942497	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1173	52942497	6186486	19639	29956											
ZNF578	147660	broad.mit.edu	37	chr19	53014089	53014089	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctggaaacaagcctaTtaaagatcagcttggattaa	9	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53014089T>G	ENST00000421239.2	+	6	699	c.455T>G	c.(454-456)aTt>aGt	p.I152S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	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)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACAAGCCTATTAAAGATCAG	0.408																																						ENST00000421239.2																			0											c.(454-456)aTt>aGt		zinc finger protein 578							153	153	153					19																	53014089		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53014089T>G	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.455T>G	19.37:g.53014089T>G	ENSP00000459216:p.Ile152Ser						p.I152S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	6	699	+			62					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.455T>G	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	12.89	2.074217	0.36566	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	T	0.30823	0.0777	L	0.41415	1.275	0.09310	N	1	P	0.52061	0.95	P	0.46718	0.525	T	0.11060	-1.0603	7	.	.	.	.	6.038	0.19718	0.0:0.0:0.0:1.0	.	152	G3V4F6	.	S	152	.	.	I	+	2	0	ZNF578	57705901	0.000000	0.05858	0.019000	0.16419	0.195000	0.23768	0.305000	0.19254	0.574000	0.29417	0.113000	0.15668	ATT		0.408	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		154	725	0	0	0	1	0	154	725					G	53014089	T	G	53014089	3	3	79	1	0	0	0	0	1	0	0	0	18063	1493	52	4	465	4	ZNF578	19	53014089	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	71592	53014089	6114894	19640	29957											
ZNF808	388558	broad.mit.edu	37	chr19	53056883	53056883	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtaatgagagtggcaaAgcctttaattgtagctcact	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53056883A>C	ENST00000359798.4	+	5	894	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGAGTGGCAAAGCCTTTAATT	0.373																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(712-714)aaA>aaC		zinc finger protein 808							144	147	146					19																	53056883		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056883A>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.714A>C	19.37:g.53056883A>C	ENSP00000352846:p.Lys238Asn						p.K238N	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	894	+			238					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.714A>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.11	1.839190	0.32513	.	.	ENSG00000198482	ENST00000359798	T	0.22134	1.97	1.57	-2.54	0.06307	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47078	0.1426	M	0.92367	3.3	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.33803	-0.9854	9	0.66056	D	0.02	.	7.1187	0.25431	0.5911:0.0:0.4089:0.0	.	238	Q8N4W9	ZN808_HUMAN	N	238	ENSP00000352846:K238N	ENSP00000352846:K238N	K	+	3	2	ZNF808	57748695	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.148000	0.16224	-0.600000	0.05790	0.254000	0.18369	AAA		0.373	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		34	888	0	0	0	1	0	34	888					C	53056883	A	C	53056883	3	2	79	1	0	0	0	0	1	0	0	0	18226	69	3	4	724	4	ZNF808	19	53056883	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	42794	53056883	6072100	19641	29958											
ZNF808	388558	broad.mit.edu	37	chr19	53057635	53057635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttacaagtgtaatgagtgtcGcaagaccttcagccgcaggt	11	9	1	2	rs573679515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53057635G>A	ENST00000359798.4	+	5	1646	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATGAGTGTCGCAAGACCTTC	0.433																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1465-1467)cGc>cAc		zinc finger protein 808							84	89	87					19																	53057635		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057635G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1466G>A	19.37:g.53057635G>A	ENSP00000352846:p.Arg489His						p.R489H	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1646	+			489					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1466G>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	6.792	0.515038	0.12944	.	.	ENSG00000198482	ENST00000359798	T	0.14893	2.47	1.5	0.355	0.16069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	N	0.12961	0.28	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	9	0.72032	D	0.01	.	6.9106	0.24333	0.1648:0.0:0.8352:0.0	.	489	Q8N4W9	ZN808_HUMAN	H	489	ENSP00000352846:R489H	ENSP00000352846:R489H	R	+	2	0	ZNF808	57749447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.455000	0.06762	-0.020000	0.14032	-1.098000	0.02139	CGC		0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		42	538	0	0	0	1	0	42	538					A	53057635	G	A	53057635	3	1	79	1	0	0	0	0	1	0	0	0	18226	1087	38	1	1476	1	ZNF808	19	53057635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	752	53057635	6071348	19642	29959											
ZNF808	388558	broad.mit.edu	37	chr19	53058088	53058088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggaattcacagctggcacGacatacaagaattcacactg	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53058088G>A	ENST00000359798.4	+	5	2099	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCTGGCACGACATACAAGA	0.408																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1918-1920)cGa>cAa		zinc finger protein 808							66	70	69					19																	53058088		2201	4299	6500	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058088G>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1919G>A	19.37:g.53058088G>A	ENSP00000352846:p.Arg640Gln						p.R640Q	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2099	+			640					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1919G>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	0.680	-0.798472	0.02841	.	.	ENSG00000198482	ENST00000359798	T	0.07216	3.21	1.58	-3.16	0.05217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.25201	0.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45702	-0.9243	9	0.12430	T	0.62	.	3.3187	0.07043	0.2243:0.0:0.2726:0.503	.	640	Q8N4W9	ZN808_HUMAN	Q	640	ENSP00000352846:R640Q	ENSP00000352846:R640Q	R	+	2	0	ZNF808	57749900	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.414000	0.00021	-1.761000	0.01310	-0.752000	0.03492	CGA		0.408	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		81	310	0	0	0	1	0	81	310					A	53058088	G	A	53058088	3	1	79	1	0	0	0	0	1	0	0	0	18226	1058	37	1	1929	1	ZNF808	19	53058088	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	453	53058088	6070895	19643	29960											
ZNF701	55762	broad.mit.edu	37	chr19	53085712	53085712	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggcatgctggaaacAaacctattaaaaatgagctt	7	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53085712A>G	ENST00000540331.1	+	5	823	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E|ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGCTGGAAACAAACCTATTAA	0.408																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(598-600)Aaa>Gaa		zinc finger protein 701							117	116	116					19																	53085712		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085712A>G	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.598A>G	19.37:g.53085712A>G	ENSP00000444339:p.Lys200Glu					ZNF701_ENST00000301093.2_Missense_Mutation_p.K200E|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.K134E	p.K200E	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	823	+			134					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.598A>G	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964412	0.34659	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05081	3.5;3.52;3.52	1.81	0.721	0.18219	.	.	.	.	.	T	0.24624	0.0597	M	0.91717	3.235	0.09310	N	1	P;D	0.63880	0.828;0.993	B;D	0.70935	0.44;0.971	T	0.07908	-1.0748	9	0.87932	D	0	.	3.7202	0.08453	0.7809:0.0:0.2191:0.0	.	200;134	F5GZM6;Q9NV72	.;ZN701_HUMAN	E	134;200;200	ENSP00000375662:K134E;ENSP00000301093:K200E;ENSP00000444339:K200E	ENSP00000301093:K200E	K	+	1	0	ZNF701	57777524	0.008000	0.16893	0.001000	0.08648	0.003000	0.03518	2.404000	0.44539	-0.003000	0.14444	0.254000	0.18369	AAA		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		36	753	0	0	0	1	0	36	753					G	53085712	A	G	53085712	3	3	79	1	0	0	0	0	1	0	0	0	18158	131	5	4	612	4	ZNF701	19	53085712	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27624	53085712	6043271	19644	29961											
ZNF701	55762	broad.mit.edu	37	chr19	53086312	53086312	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtgacaaaGttttcagtcgcaaatcacac	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086312G>A	ENST00000540331.1	+	5	1423	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I|ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	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)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATGTGACAAAGTTTTCAGTCG	0.378																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1198-1200)Gtt>Att		zinc finger protein 701							81	84	83					19																	53086312		2203	4297	6500	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086312G>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1198G>A	19.37:g.53086312G>A	ENSP00000444339:p.Val400Ile					ZNF701_ENST00000301093.2_Missense_Mutation_p.V400I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.V334I	p.V400I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1423	+			334					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1198G>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562911	0.27915	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.01015	5.44;5.44;5.44	1.87	0.685	0.18009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	L	0.41961	1.31	0.09310	N	1	P;D	0.63046	0.881;0.992	B;D	0.77004	0.406;0.989	T	0.50065	-0.8871	9	0.72032	D	0.01	.	2.9813	0.05954	0.1571:0.0:0.3677:0.4751	.	400;334	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	334;400;400	ENSP00000375662:V334I;ENSP00000301093:V400I;ENSP00000444339:V400I	ENSP00000301093:V400I	V	+	1	0	ZNF701	57778124	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.156000	0.01283	0.091000	0.17302	0.400000	0.26472	GTT		0.378	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		80	506	0	0	0	1	0	80	506					A	53086312	G	A	53086312	3	1	79	1	0	0	0	0	1	0	0	0	18158	1029	36	2	1212	2	ZNF701	19	53086312	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	53086312	6042671	19645	29962											
ZNF701	55762	broad.mit.edu	37	chr19	53086349	53086349	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaccttgaaagacataggaGaattcacactggagagaaac	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086349G>T	ENST00000540331.1	+	5	1460	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I|ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	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)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGACATAGGAGAATTCACACT	0.408																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(1234-1236)aGa>aTa		zinc finger protein 701							92	94	93					19																	53086349		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53086349G>T	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.1235G>T	19.37:g.53086349G>T	ENSP00000444339:p.Arg412Ile					ZNF701_ENST00000301093.2_Missense_Mutation_p.R412I|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R346I	p.R412I	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	1460	+			346					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.1235G>T	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382750	0.25031	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.24908	1.83;1.83;1.83	1.87	-2.88	0.05682	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35480	0.0933	M	0.81341	2.54	0.09310	N	1	P;D	0.60575	0.619;0.988	B;P	0.56514	0.094;0.8	T	0.25537	-1.0129	9	0.45353	T	0.12	.	0.9989	0.01473	0.2602:0.1741:0.3898:0.1759	.	412;346	F5GZM6;Q9NV72	.;ZN701_HUMAN	I	346;412;412	ENSP00000375662:R346I;ENSP00000301093:R412I;ENSP00000444339:R412I	ENSP00000301093:R412I	R	+	2	0	ZNF701	57778161	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-4.934000	0.00168	-0.245000	0.09625	-0.530000	0.04314	AGA		0.408	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		125	529	1	0	8.41509e-73	1	1.07079e-72	125	529					T	53086349	G	T	53086349	3	4	79	1	0	0	0	0	1	0	0	0	18158	942	33	3	1249	3	ZNF701	19	53086349	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37	53086349	6042634	19646	29963											
ZNF83	55769	broad.mit.edu	37	chr19	53117594	53117594	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaataatgaatccacaAaattacattcatatgtatga	6	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53117594A>C	ENST00000597597.1	-	2	2477	c.224T>G	c.(223-225)tTt>tGt	p.F75C	ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C			P51522	ZNF83_HUMAN	zinc finger protein 83	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATCCACAAAATTACATTC	0.373																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(223-225)tTt>tGt		zinc finger protein 83							70	72	72					19																	53117594		2203	4300	6503	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53117594A>C	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.224T>G	19.37:g.53117594A>C	ENSP00000472619:p.Phe75Cys					ZNF83_ENST00000536937.1_Missense_Mutation_p.F75C|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.F75C|ZNF83_ENST00000541777.2_Missense_Mutation_p.F75C|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.F75C|ZNF83_ENST00000391789.4_Missense_Mutation_p.F75C|ZNF83_ENST00000301096.3_Missense_Mutation_p.F75C	p.F75C			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	2477	-			75					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.224T>G	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	a	12.24	1.877900	0.33162	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09163	3.03;3.03;3.03;3.03;3.03;3.01	2.43	2.43	0.29744	.	.	.	.	.	T	0.34019	0.0883	M	0.88377	2.95	0.09310	N	1	D;D	0.89917	0.998;1.0	P;D	0.83275	0.889;0.996	T	0.06463	-1.0825	9	0.36615	T	0.2	.	8.3566	0.32333	1.0:0.0:0.0:0.0	.	75;75	P51522-2;P51522	.;ZNF83_HUMAN	C	75	ENSP00000445993:F75C;ENSP00000301096:F75C;ENSP00000445470:F75C;ENSP00000440713:F75C;ENSP00000439681:F75C;ENSP00000375666:F75C	ENSP00000301096:F75C	F	-	2	0	ZNF83	57809406	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	1.334000	0.33827	1.099000	0.41499	0.482000	0.46254	TTT		0.373	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		58	222	0	0	0	1	0	58	222					C	53117594	A	C	53117594	3	2	79	1	0	0	0	0	1	0	0	0	18236	14	1	4	1330	4	ZNF83	19	53117594	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31245	53117594	6011389	19647	29964											
ZNF611	81856	broad.mit.edu	37	chr19	53208551	53208551	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcaccactatgaactCtatgatggcatacaaggtat	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53208551C>A	ENST00000319783.1	-	7	2073	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I|ZNF611_ENST00000543227.1_Missense_Mutation_p.R586I|ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		ACTATGAACTCTATGATGGCA	0.438																																						ENST00000543227.1																			0				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						c.(1756-1758)aGa>aTa		zinc finger protein 611							258	235	243					19																	53208551		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208551C>A	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.1757G>T	19.37:g.53208551C>A	ENSP00000322427:p.Arg586Ile					ZNF611_ENST00000602162.1_Missense_Mutation_p.R517I|ZNF611_ENST00000453741.2_Missense_Mutation_p.R517I|ZNF611_ENST00000595798.1_Missense_Mutation_p.R517I|ZNF611_ENST00000319783.1_Missense_Mutation_p.R586I|ZNF611_ENST00000540744.1_Missense_Mutation_p.R586I	p.R586I	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2031	-			586					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1757G>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	11.94	1.788816	0.31685	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.58	0.308	0.15815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22551	0.0544	L	0.58810	1.83	0.09310	N	1	P	0.37612	0.602	B	0.37239	0.244	T	0.16276	-1.0408	9	0.59425	D	0.04	.	4.7739	0.13169	0.2223:0.3359:0.4418:0.0	.	586	Q8N823	ZN611_HUMAN	I	586;586;517;586	ENSP00000437616:R586I;ENSP00000439211:R586I;ENSP00000443505:R517I;ENSP00000322427:R586I	ENSP00000322427:R586I	R	-	2	0	ZNF611	57900363	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.834000	0.04391	-0.045000	0.13468	0.313000	0.20887	AGA		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		242	1116	1	0	1.14397e-64	1	1.44579e-64	242	1116					A	53208551	C	A	53208551	3	1	79	1	0	0	0	0	1	0	0	0	18090	913	32	3	364	3	ZNF611	19	53208551	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	90957	53208551	5920432	19648	29965											
ZNF600	162966	broad.mit.edu	37	chr19	53270299	53270299	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttactgcagtgtgaagtctaCgatggcatgtaagggatgat	13	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53270299C>T	ENST00000338230.3	-	3	977	c.710G>A	c.(709-711)cGt>cAt	p.R237H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		GTGAAGTCTACGATGGCATGT	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(709-711)cGt>cAt		zinc finger protein 600							174	166	169					19																	53270299		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270299C>T	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.710G>A	19.37:g.53270299C>T	ENSP00000344791:p.Arg237His						p.R237H	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	977	-			237					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.710G>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	7.585	0.669634	0.14776	.	.	ENSG00000189190	ENST00000338230	T	0.07688	3.17	1.62	-3.23	0.05109	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04952	0.0133	L	0.33339	1.005	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.41233	-0.9520	9	0.40728	T	0.16	.	0.5747	0.00701	0.1747:0.2268:0.1752:0.4233	.	237	Q6ZNG1	ZN600_HUMAN	H	237	ENSP00000344791:R237H	ENSP00000344791:R237H	R	-	2	0	ZNF600	57962111	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.889000	0.04144	-1.180000	0.02734	0.313000	0.20887	CGT		0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		175	698	0	0	0	1	0	175	698					T	53270299	C	T	53270299	3	4	79	1	0	0	0	0	1	0	0	0	18083	536	19	1	1462	1	ZNF600	19	53270299	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61748	53270299	5858684	19649	29966											
ZNF28	7576	broad.mit.edu	37	chr19	53304225	53304225	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgtctgcagtatgaagCgccttgtgaaggaagaggga	16	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304225C>T	ENST00000457749.2	-	4	992	c.873G>A	c.(871-873)gcG>gcA	p.A291A	ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000438150.2_Silent_p.A238A|ZNF28_ENST00000414252.2_Silent_p.A238A	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	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)|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)		CAGTATGAAGCGCCTTGTGAA	0.398																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(712-714)gcG>gcA		zinc finger protein 28							151	142	145					19																	53304225		2203	4300	6503	SO:0001819	synonymous_variant	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304225C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.873G>A	19.37:g.53304225C>T						ZNF28_ENST00000360272.4_Silent_p.A238A|ZNF28_ENST00000457749.2_Silent_p.A291A|ZNF28_ENST00000414252.2_Silent_p.A238A	p.A238A			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1607	-			291					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Silent	SNP	ENST00000457749.2	37	c.714G>A	CCDS33093.2																																																																																				0.398	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		117	505	0	0	0	1	0	117	505					T	53304225	C	T	53304225	2	4	79	1	0	0	0	0	0	0	0	1	17866	755	27	1		1	ZNF28	19	53304225	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33926	53304225	5824758	19650	29967											
ZNF28	7576	broad.mit.edu	37	chr19	53304313	53304313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcaatgtgagatctaCgatggcatgcaaggtatcgc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304313C>T	ENST00000457749.2	-	4	904	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000438150.2_Missense_Mutation_p.R209H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	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)			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)		GTGAGATCTACGATGGCATGC	0.383																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(625-627)cGt>cAt		zinc finger protein 28							159	135	143					19																	53304313		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53304313C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.785G>A	19.37:g.53304313C>T	ENSP00000397693:p.Arg262His					ZNF28_ENST00000360272.4_Missense_Mutation_p.R209H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R262H|ZNF28_ENST00000414252.2_Missense_Mutation_p.R209H	p.R209H			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	1519	-			262					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.626G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	7.070	0.568038	0.13560	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.18502	2.42;2.42;2.42;2.42;2.21	1.37	-2.74	0.05932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	L	0.43554	1.36	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.27123	-1.0083	9	0.44086	T	0.13	.	5.9021	0.18972	0.0:0.2984:0.0:0.7016	.	262	P17035	ZNF28_HUMAN	H	209;262;209;209;209	ENSP00000412143:R209H;ENSP00000397693:R262H;ENSP00000353410:R209H;ENSP00000444965:R209H;ENSP00000375661:R209H	ENSP00000353410:R209H	R	-	2	0	ZNF28	57996125	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.473000	0.06615	-0.965000	0.03591	-0.708000	0.03648	CGT		0.383	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		97	429	0	0	0	1	0	97	429					T	53304313	C	T	53304313	3	4	79	1	0	0	0	0	1	0	0	0	17866	536	19	1	1375	1	ZNF28	19	53304313	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	53304313	5824670	19651	29968											
ZNF320	162967	broad.mit.edu	37	chr19	53385152	53385152	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caatgtgataacttgcttgtCtctgcaatgtccctgtgtgg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53385152C>T	ENST00000595635.1	-	8	728	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTTGCTTGTCTCTGCAATGT	0.383																																						ENST00000595635.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(226-228)aGa>aAa		zinc finger protein 320							161	158	159					19																	53385152		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53385152C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.227G>A	19.37:g.53385152C>T	ENSP00000473091:p.Arg76Lys					ZNF320_ENST00000391781.2_Missense_Mutation_p.R76K|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	p.R76K	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	8	728	-			76			KRAB.		Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.227G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	8.622	0.891653	0.17613	.	.	ENSG00000182986	ENST00000391781	T	0.06528	3.29	1.18	1.18	0.20946	Krueppel-associated box (1);	.	.	.	.	T	0.04815	0.0130	L	0.50333	1.59	0.09310	N	1	P	0.40476	0.718	B	0.28385	0.089	T	0.37596	-0.9699	9	0.34782	T	0.22	.	5.7807	0.18304	0.0:1.0:0.0:0.0	.	76	A2RRD8	ZN320_HUMAN	K	76	ENSP00000375660:R76K	ENSP00000375660:R76K	R	-	2	0	ZNF320	58076964	0.000000	0.05858	0.009000	0.14445	0.041000	0.13682	-0.289000	0.08365	0.955000	0.37878	0.184000	0.17185	AGA		0.383	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		194	753	0	0	0	1	0	194	753					T	53385152	C	T	53385152	3	4	79	1	0	0	0	0	1	0	0	0	17892	913	32	2	1306	2	ZNF320	19	53385152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80839	53385152	5743831	19652	29969											
ZNF816A	125893	broad.mit.edu	37	chr19	53453322	53453322	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gattaaaaaccttcgcacatTtattacacttgtaaggtttc	5	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453322T>G	ENST00000357666.4	-	5	2006	c.1706A>C	c.(1705-1707)aAa>aCa	p.K569T	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.K569T|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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						CTTCGCACATTTATTACACTT	0.388																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1705-1707)aAa>aCa		zinc finger protein 816							68	70	69					19																	53453322		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453322T>G	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.1706A>C	19.37:g.53453322T>G	ENSP00000350295:p.Lys569Thr					ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.K569T	p.K569T	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	2006	-			569					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.1706A>C	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	6.005	0.369381	0.11352	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.35605	1.3;1.3	1.79	1.79	0.24919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	N	0.10972	0.075	0.19945	N	0.999943	P	0.40066	0.701	B	0.42738	0.396	T	0.11743	-1.0575	9	0.87932	D	0	.	6.8252	0.23878	0.0:0.0:0.0:1.0	.	569	Q0VGE8	ZN816_HUMAN	T	569	ENSP00000350295:K569T;ENSP00000403266:K569T	ENSP00000350295:K569T	K	-	2	0	ZNF816	58145134	0.000000	0.05858	0.728000	0.30774	0.315000	0.28087	0.166000	0.16583	0.800000	0.34041	0.172000	0.16884	AAA		0.388	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		50	403	0	0	0	1	0	50	403					G	53453322	T	G	53453322	3	3	79	1	0	0	0	0	1	0	0	0	18230	1841	64	4	253	4	ZNF816A	19	53453322	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	68170	53453322	5675661	19653	29970											
ZNF816A	125893	broad.mit.edu	37	chr19	53453615	53453615	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtgtgaagtgtatgAtggtattgaagggatgactt	13	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453615A>G	ENST00000357666.4	-	5	1713	c.1413T>C	c.(1411-1413)caT>caC	p.H471H	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.H471H|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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						GAAGTGTATGATGGTATTGAA	0.413																																						ENST00000357666.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(1411-1413)caT>caC		zinc finger protein 816							125	122	123					19																	53453615		2203	4300	6503	SO:0001819	synonymous_variant	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453615A>G	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.1413T>C	19.37:g.53453615A>G						ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Silent_p.H471H	p.H471H	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN			5	1713	-			471					A8K7H5|Q3KR39|Q659B3	Silent	SNP	ENST00000357666.4	37	c.1413T>C	CCDS33096.1																																																																																				0.413	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		101	430	0	0	0	1	0	101	430					G	53453615	A	G	53453615	2	3	79	1	0	0	0	0	0	0	0	1	18230	330	12	4		4	ZNF816A	19	53453615	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	293	53453615	5675368	19654	29971											
ZNF160	90338	broad.mit.edu	37	chr19	53572121	53572121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctccagaatgaattccccGatgacttctaaggtgtgatt	8	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53572121G>A	ENST00000429604.1	-	7	2081	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ZNF160_ENST00000601421.1_Missense_Mutation_p.R520W|ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W|ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	556					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)		TGAATTCCCCGATGACTTCTA	0.413																																						ENST00000601421.1																			0				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						c.(1558-1560)Cgg>Tgg		zinc finger protein 160							85	86	86					19																	53572121		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572121G>A	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.1666C>T	19.37:g.53572121G>A	ENSP00000406201:p.Arg556Trp					ZNF160_ENST00000418871.1_Missense_Mutation_p.R556W|ZNF160_ENST00000599056.1_Missense_Mutation_p.R556W|ZNF160_ENST00000429604.1_Missense_Mutation_p.R556W	p.R520W			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	2434	-			556					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1558C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098400	0.37048	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07688	3.17;3.17	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	L	0.61036	1.89	0.33412	D	0.578734	P	0.35307	0.494	B	0.30401	0.115	T	0.17653	-1.0362	9	0.87932	D	0	.	11.4708	0.50268	0.0:0.0:1.0:0.0	.	556	Q9HCG1	ZN160_HUMAN	W	556	ENSP00000406201:R556W;ENSP00000409597:R556W	ENSP00000409597:R556W	R	-	1	2	ZNF160	58263933	0.000000	0.05858	0.031000	0.17742	0.021000	0.10359	-1.606000	0.02072	1.221000	0.43506	0.561000	0.74099	CGG		0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		98	442	0	0	0	1	0	98	442					A	53572121	G	A	53572121	3	1	79	1	0	0	0	0	1	0	0	0	17792	1057	37	1	794	1	ZNF160	19	53572121	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118506	53572121	5556862	19655	29972											
ZNF415	55786	broad.mit.edu	37	chr19	53612015	53612015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaactctccgatgactcGcaaggtgtgaattgtaactg	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612015G>A	ENST00000500065.4	-	4	1616	c.1283C>T	c.(1282-1284)gCg>gTg	p.A428V	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000455735.2_Missense_Mutation_p.A476V|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	476					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)		CCGATGACTCGCAAGGTGTGA	0.423																																						ENST00000455735.2																			0				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						c.(1426-1428)gCg>gTg		zinc finger protein 415							121	117	118					19																	53612015		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612015G>A	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.1283C>T	19.37:g.53612015G>A	ENSP00000439435:p.Ala428Val					ZNF415_ENST00000243643.4_Missense_Mutation_p.A428V|ZNF415_ENST00000601493.1_Missense_Mutation_p.A198V|ZNF415_ENST00000421033.1_Missense_Mutation_p.A440V|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.A428V|ZNF415_ENST00000440291.1_Missense_Mutation_p.A415V|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.A476V	p.A476V			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1747	-			476					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1427C>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	G	3.941	-0.014304	0.07681	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16	2.77	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02571	0.0078	N	0.11201	0.11	0.09310	N	1	B;P;P;B;P;P	0.51147	0.339;0.719;0.565;0.339;0.51;0.942	B;B;B;B;B;B	0.32393	0.008;0.094;0.019;0.008;0.015;0.145	T	0.42344	-0.9457	9	0.30078	T	0.28	.	3.1834	0.06592	0.3435:0.0:0.4691:0.1874	.	428;476;476;428;415;440	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	V	428;428;476;440;476;415	ENSP00000243643:A428V;ENSP00000439435:A428V;ENSP00000396492:A476V;ENSP00000395055:A440V;ENSP00000388787:A476V;ENSP00000414601:A415V	ENSP00000243643:A428V	A	-	2	0	ZNF415	58303827	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.307000	0.08167	-0.224000	0.09928	-0.350000	0.07774	GCG		0.423	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		116	470	0	0	0	1	0	116	470					A	53612015	G	A	53612015	3	1	79	1	0	0	0	0	1	0	0	0	17945	1087	38	1	388	1	ZNF415	19	53612015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39894	53612015	5516968	19656	29973											
ZNF415	55786	broad.mit.edu	37	chr19	53612071	53612071	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattgcatttgtaaggtttCtctccagtatgaattctcca	6	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612071C>T	ENST00000500065.4	-	4	1560	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000455735.2_Silent_p.E457E|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.E457E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000421033.1_Silent_p.E421E	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	457					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)		TGTAAGGTTTCTCTCCAGTAT	0.408																																						ENST00000455735.2																			0				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						c.(1369-1371)gaG>gaA		zinc finger protein 415							71	71	71					19																	53612071		2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612071C>T	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.1227G>A	19.37:g.53612071C>T						ZNF415_ENST00000243643.4_Silent_p.E409E|ZNF415_ENST00000601493.1_Silent_p.E179E|ZNF415_ENST00000421033.1_Silent_p.E421E|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Silent_p.E409E|ZNF415_ENST00000440291.1_Silent_p.E396E|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.E457E	p.E457E			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1691	-			457					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.1371G>A	CCDS54313.1																																																																																				0.408	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		68	266	0	0	0	1	0	68	266					T	53612071	C	T	53612071	2	4	79	1	0	0	0	0	0	0	0	1	17945	912	32	2		2	ZNF415	19	53612071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56	53612071	5516912	19657	29974											
ZNF347	84671	broad.mit.edu	37	chr19	53645099	53645099	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgagagttgtgaatttcGactaaagaccttaccacact	8	8	0	3	rs146144984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645099G>A	ENST00000334197.7	-	5	1050	c.982C>T	c.(982-984)Cga>Tga	p.R328*	ZNF347_ENST00000452676.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	328					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)		TGTGAATTTCGACTAAAGACC	0.398																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(985-987)Cga>Tga		zinc finger protein 347		G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	136	128	131		985,985,982	-5.3	0	19	dbSNP_134	131	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	329/841,329/841,328/840	53645099	1,13005	2203	4300	6503	SO:0001587	stop_gained	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645099G>A	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.982C>T	19.37:g.53645099G>A	ENSP00000334146:p.Arg328*					ZNF347_ENST00000601469.2_Nonsense_Mutation_p.R329*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Nonsense_Mutation_p.R328*	p.R329*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1411	-			328					B3KU77|B9EG59|G5E9N4|Q8TCN1	Nonsense_Mutation	SNP	ENST00000334197.7	37	c.985C>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997065	0.54147	2.27E-4	0.0	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	.	.	.	2.65	-5.29	0.02747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	2.5002	0.04631	0.102:0.1464:0.3053:0.4463	.	.	.	.	X	328;329;2	.	ENSP00000334146:R328X	R	-	1	2	ZNF347	58336911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.256000	0.01181	-1.398000	0.02066	-0.428000	0.05917	CGA		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		125	473	0	0	0	1	0	125	473					A	53645099	G	A	53645099	4	1	79	1	0	0	0	0	0	1	0	0	17914	1066	37	1	1541	1	ZNF347	19	53645099	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33028	53645099	5483884	19658	29975											
ZNF347	84671	broad.mit.edu	37	chr19	53645126	53645126	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaccttaccacactcattacAtttgtaacgtttttcgccag	5	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645126A>G	ENST00000334197.7	-	5	1023	c.955T>C	c.(955-957)Tgt>Cgt	p.C319R	ZNF347_ENST00000452676.2_Missense_Mutation_p.C320R|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACTCATTACATTTGTAACGT	0.383																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(958-960)Tgt>Cgt		zinc finger protein 347							153	145	148					19																	53645126		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645126A>G	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.955T>C	19.37:g.53645126A>G	ENSP00000334146:p.Cys319Arg					ZNF347_ENST00000601469.2_Missense_Mutation_p.C320R|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.C319R	p.C320R	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1384	-			319					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.958T>C	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696074	0.48202	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85258	-1.96;-1.96	2.85	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94565	0.8249	H	0.98525	4.255	0.37637	D	0.921891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94998	0.8140	9	0.72032	D	0.01	.	9.1425	0.36912	1.0:0.0:0.0:0.0	.	320;319	G5E9N4;Q96SE7	.;ZN347_HUMAN	R	319;320	ENSP00000334146:C319R;ENSP00000405218:C320R	ENSP00000334146:C319R	C	-	1	0	ZNF347	58336938	0.623000	0.27094	0.005000	0.12908	0.003000	0.03518	4.785000	0.62418	1.326000	0.45319	0.533000	0.62120	TGT		0.383	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		68	598	0	0	0	1	0	68	598					G	53645126	A	G	53645126	3	3	79	1	0	0	0	0	1	0	0	0	17914	217	8	4	1568	4	ZNF347	19	53645126	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	27	53645126	5483857	19659	29976											
ZNF347	84671	broad.mit.edu	37	chr19	53652554	53652554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtacaaagtcctctgagCggggtccaggcatgtccact	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53652554C>T	ENST00000334197.7	-	3	150	c.82G>A	c.(82-84)Gct>Act	p.A28T	ZNF347_ENST00000452676.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTCCTCTGAGCGGGGTCCAGG	0.507																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(82-84)Gct>Act		zinc finger protein 347							109	112	111					19																	53652554		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53652554C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.82G>A	19.37:g.53652554C>T	ENSP00000334146:p.Ala28Thr					ZNF347_ENST00000601469.2_Missense_Mutation_p.A28T|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.A28T	p.A28T	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	3	508	-			28			KRAB.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.82G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	4.206	0.037002	0.08148	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02236	4.38;4.38	2.38	1.15	0.20763	Krueppel-associated box (4);	.	.	.	.	T	0.02119	0.0066	M	0.63428	1.95	0.09310	N	1	B;P	0.41420	0.366;0.749	B;B	0.27715	0.013;0.082	T	0.45498	-0.9257	9	0.36615	T	0.2	.	4.2304	0.10601	0.2576:0.4897:0.2527:0.0	.	28;28	G5E9N4;Q96SE7	.;ZN347_HUMAN	T	28	ENSP00000334146:A28T;ENSP00000405218:A28T	ENSP00000334146:A28T	A	-	1	0	ZNF347	58344366	0.000000	0.05858	0.115000	0.21578	0.131000	0.20780	-0.229000	0.09098	1.337000	0.45525	0.591000	0.81541	GCT		0.507	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		127	534	0	0	0	1	0	127	534					T	53652554	C	T	53652554	3	4	79	1	0	0	0	0	1	0	0	0	17914	768	27	1	2452	1	ZNF347	19	53652554	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7428	53652554	5476429	19660	29977											
ZNF665	79788	broad.mit.edu	37	chr19	53667726	53667726	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatccactatgaattcttcGatgttttgcaaggtttgaat	7	7	1	2	rs202219454	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53667726G>A	ENST00000600412.1	-	2	1937	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19464	0.001		0.0	False		,,,				2504	0.0					ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1822-1824)Cga>Tga		zinc finger protein 665							40	41	41					19																	53667726		2160	4286	6446	SO:0001587	stop_gained	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53667726G>A		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.1822C>T	19.37:g.53667726G>A	ENSP00000469154:p.Arg608*					ZNF665_ENST00000396424.3_Nonsense_Mutation_p.R673*	p.R608*			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1937	-			608					A8K5T8	Nonsense_Mutation	SNP	ENST00000600412.1	37	c.1822C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.2	4.902202	0.92035	.	.	ENSG00000197497	ENST00000396424	.	.	.	2.23	1.16	0.20824	.	.	.	.	.	.	.	.	.	.	.	0.22601	N	0.998943	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.6878	0.28550	0.1416:0.0:0.8584:0.0	.	.	.	.	X	673	.	ENSP00000379702:R673X	R	-	1	2	ZNF665	58359538	0.000000	0.05858	0.005000	0.12908	0.045000	0.14185	-0.524000	0.06222	0.262000	0.21774	0.543000	0.68304	CGA		0.488	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		18	132	0	0	0	1	0	18	132					A	53667726	G	A	53667726	4	1	79	1	0	0	0	0	0	1	0	0	18126	1066	37	1	23	1	ZNF665	19	53667726	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15172	53667726	5461257	19661	29978											
ZNF665	79788	broad.mit.edu	37	chr19	53668078	53668078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgatgaattgcaaggtaCgaattgtgtctgaagacctt	10	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668078C>T	ENST00000600412.1	-	2	1585	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Silent_p.S555S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	490					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		TTGCAAGGTACGAATTGTGTC	0.388																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1468-1470)tcG>tcA		zinc finger protein 665							139	147	144					19																	53668078		2202	4299	6501	SO:0001819	synonymous_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668078C>T		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.1470G>A	19.37:g.53668078C>T						ZNF665_ENST00000396424.3_Silent_p.S555S	p.S490S			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	1585	-			490					A8K5T8	Silent	SNP	ENST00000600412.1	37	c.1470G>A																																																																																					0.388	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		110	470	0	0	0	1	0	110	470					T	53668078	C	T	53668078	2	4	79	1	0	0	0	0	0	0	0	1	18126	523	19	1		1	ZNF665	19	53668078	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	352	53668078	5460905	19662	29979											
ZNF665	79788	broad.mit.edu	37	chr19	53668976	53668976	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggtttctctccagtaTgaattctctgatgacctgca	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668976T>C	ENST00000600412.1	-	2	687	c.572A>G	c.(571-573)cAt>cGt	p.H191R	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		CTCTCCAGTATGAATTCTCTG	0.398																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(571-573)cAt>cGt		zinc finger protein 665							102	112	109					19																	53668976		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668976T>C		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.572A>G	19.37:g.53668976T>C	ENSP00000469154:p.His191Arg					ZNF665_ENST00000396424.3_Missense_Mutation_p.H256R	p.H191R			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	687	-			191					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.572A>G		.	.	.	.	.	.	.	.	.	.	T	15.53	2.860023	0.51482	.	.	ENSG00000197497	ENST00000396424	T	0.67523	-0.27	2.44	0.146	0.14833	.	.	.	.	.	D	0.82351	0.5018	M	0.92122	3.275	0.23095	N	0.998303	D	0.89917	1.0	D	0.91635	0.999	T	0.69176	-0.5214	9	0.87932	D	0	.	6.2248	0.20701	0.0:0.2501:0.0:0.7499	.	256	Q9H7R5-2	.	R	256	ENSP00000379702:H256R	ENSP00000379702:H256R	H	-	2	0	ZNF665	58360788	0.998000	0.40836	0.000000	0.03702	0.372000	0.29890	4.080000	0.57620	-0.172000	0.10779	0.443000	0.29094	CAT		0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		26	622	0	0	0	1	0	26	622					C	53668976	T	C	53668976	3	2	79	1	0	0	0	0	1	0	0	0	18126	1464	51	4	1273	4	ZNF665	19	53668976	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	898	53668976	5460007	19663	29980											
ZNF665	79788	broad.mit.edu	37	chr19	53669537	53669537	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaacttcaccgtgtagaacGcttctcccatattgttcttc	5	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53669537G>A	ENST00000600412.1	-	2	126	c.11C>T	c.(10-12)gCg>gTg	p.A4V	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		CGTGTAGAACGCTTCTCCCAT	0.408																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(10-12)gCg>gTg		zinc finger protein 665							230	227	228					19																	53669537		1944	4157	6101	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669537G>A		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.11C>T	19.37:g.53669537G>A	ENSP00000469154:p.Ala4Val					ZNF665_ENST00000396424.3_Missense_Mutation_p.A69V	p.A4V			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	126	-			4					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.11C>T		.	.	.	.	.	.	.	.	.	.	G	0.415	-0.911452	0.02434	.	.	ENSG00000197497	ENST00000396424	T	0.05081	3.5	1.85	0.809	0.18725	.	.	.	.	.	T	0.01695	0.0054	N	0.00841	-1.15	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.48525	-0.9028	9	0.11794	T	0.64	.	5.9136	0.19041	0.8463:0.0:0.1537:0.0	.	69	Q9H7R5-2	.	V	69	ENSP00000379702:A69V	ENSP00000379702:A69V	A	-	2	0	ZNF665	58361349	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.590000	0.05760	0.189000	0.20188	-0.436000	0.05848	GCG		0.408	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		95	1071	0	0	0	1	0	95	1071					A	53669537	G	A	53669537	3	1	79	1	0	0	0	0	1	0	0	0	18126	1087	38	1	1834	1	ZNF665	19	53669537	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	561	53669537	5459446	19664	29981											
ZNF665	79788	broad.mit.edu	37	chr19	53678811	53678811	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attctatggccacatccttgAatgtcaactgtccctaaaat	5	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53678811A>G	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.F10S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		CACATCCTTGAATGTCAACTG	0.413																																						ENST00000396424.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(28-30)tTc>tCc		zinc finger protein 665							112	113	113					19																	53678811		2203	4300	6503	SO:0001627	intron_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53678811A>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"Zinc fingers, C2H2-type", "-"	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9211T>C	19.37:g.53678811A>G						ZNF665_ENST00000600412.1_Intron	p.F10S	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	118	-			0					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.29T>C		.	.	.	.	.	.	.	.	.	.	A	11.00	1.508950	0.27036	.	.	ENSG00000197497	ENST00000396424	T	0.08984	3.03	2.67	2.67	0.31697	.	.	.	.	.	T	0.07773	0.0195	.	.	.	0.09310	N	1	P	0.45827	0.867	B	0.39027	0.288	T	0.24977	-1.0145	8	0.72032	D	0.01	.	8.8024	0.34916	1.0:0.0:0.0:0.0	.	10	Q9H7R5-2	.	S	10	ENSP00000379702:F10S	ENSP00000379702:F10S	F	-	2	0	ZNF665	58370623	0.961000	0.32948	0.081000	0.20488	0.394000	0.30568	3.356000	0.52269	1.214000	0.43395	0.533000	0.62120	TTC		0.413	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		62	542	0	0	0	1	0	62	542					G	53678811	A	G	53678811	1	3	79	0	1	0	0	0	0	0	0	0	18126	246	9	4		4	ZNF665	19	53678811	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9274	53678811	5450172	19665	29982											
ZNF677	342926	broad.mit.edu	37	chr19	53741328	53741328	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaactattgatagacttctCaactggattacattcataca	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741328C>T	ENST00000598513.1	-	5	802	c.652G>A	c.(652-654)Gag>Aag	p.E218K	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.E218K	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		ATAGACTTCTCAACTGGATTA	0.338																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(652-654)Gag>Aag		zinc finger protein 677							55	56	56					19																	53741328		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741328C>T	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.652G>A	19.37:g.53741328C>T	ENSP00000469391:p.Glu218Lys					ZNF677_ENST00000598513.1_Missense_Mutation_p.E218K	p.E218K			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	817	-			218						Missense_Mutation	SNP	ENST00000598513.1	37	c.652G>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	5.907	0.351466	0.11182	.	.	ENSG00000197928	ENST00000333952	T	0.07567	3.18	2.16	-0.189	0.13260	.	0.527792	0.14232	N	0.332664	T	0.06917	0.0176	L	0.43923	1.385	0.09310	N	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.30327	-0.9982	10	0.62326	D	0.03	.	4.9484	0.14002	0.0:0.6387:0.219:0.1423	.	218	Q86XU0	ZN677_HUMAN	K	218	ENSP00000334394:E218K	ENSP00000334394:E218K	E	-	1	0	ZNF677	58433140	0.000000	0.05858	0.004000	0.12327	0.347000	0.29111	0.515000	0.22801	0.028000	0.15324	0.655000	0.94253	GAG		0.338	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		56	236	0	0	0	1	0	56	236					T	53741328	C	T	53741328	3	4	79	1	0	0	0	0	1	0	0	0	18137	835	29	2	1106	2	ZNF677	19	53741328	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62517	53741328	5387655	19666	29983											
ZNF677	342926	broad.mit.edu	37	chr19	53741428	53741428	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attttattttcaaaacacttCacgtatttgtttccggcata	4	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741428C>T	ENST00000598513.1	-	5	702	c.552G>A	c.(550-552)gtG>gtA	p.V184V	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Silent_p.V184V	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		CAAAACACTTCACGTATTTGT	0.348																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(550-552)gtG>gtA		zinc finger protein 677							71	68	69					19																	53741428		2202	4300	6502	SO:0001819	synonymous_variant	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53741428C>T	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.552G>A	19.37:g.53741428C>T						ZNF677_ENST00000598513.1_Silent_p.V184V	p.V184V			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	717	-			184						Silent	SNP	ENST00000598513.1	37	c.552G>A	CCDS12861.1																																																																																				0.348	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		10	313	0	0	0	1	0	10	313					T	53741428	C	T	53741428	2	4	79	1	0	0	0	0	0	0	0	1	18137	813	29	2		2	ZNF677	19	53741428	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100	53741428	5387555	19667	29984											
ZNF677	342926	broad.mit.edu	37	chr19	53747046	53747046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaaagcaggttcctgtaGttctccaacatcacgtccct	8	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53747046G>A	ENST00000598513.1	-	4	270	c.120C>T	c.(118-120)aaC>aaT	p.N40N	ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000333952.4_Silent_p.N40N|ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTTCCTGTAGTTCTCCAACA	0.488																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(118-120)aaC>aaT		zinc finger protein 677							125	114	118					19																	53747046		2203	4300	6503	SO:0001819	synonymous_variant	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53747046G>A	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.120C>T	19.37:g.53747046G>A						ZNF677_ENST00000598806.1_Silent_p.N40N|ZNF677_ENST00000594681.1_Silent_p.N40N|ZNF677_ENST00000599012.1_Silent_p.N40N|ZNF677_ENST00000601828.1_Silent_p.N40N|ZNF677_ENST00000601413.1_Silent_p.N40N|ZNF677_ENST00000598513.1_Silent_p.N40N	p.N40N			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	4	285	-			40			KRAB.			Silent	SNP	ENST00000598513.1	37	c.120C>T	CCDS12861.1																																																																																				0.488	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		91	385	0	0	0	1	0	91	385					A	53747046	G	A	53747046	2	1	79	1	0	0	0	0	0	0	0	1	18137	1020	36	2		2	ZNF677	19	53747046	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5618	53747046	5381937	19668	29985											
VN1R2	317701	broad.mit.edu	37	chr19	53762196	53762196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtcttccaggtgatcAccatcaaccctaggaactcc	8	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762196A>G	ENST00000341702.3	+	1	652	c.568A>G	c.(568-570)Acc>Gcc	p.T190A		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	190					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.T190S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCAGGTGATCACCATCAACCC	0.488																																						ENST00000341702.3																			1	Substitution - Missense(1)	p.T190S(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(568-570)Acc>Gcc		vomeronasal 1 receptor 2							45	45	45					19																	53762196		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762196A>G	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.568A>G	19.37:g.53762196A>G	ENSP00000351244:p.Thr190Ala						p.T190A	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	652	+			190					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.568A>G	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	8.622	0.891570	0.17613	.	.	ENSG00000196131	ENST00000341702	T	0.24723	1.84	2.94	1.92	0.25849	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46870	0.1415	M	0.89478	3.035	0.09310	N	1	D	0.55605	0.972	P	0.60609	0.877	T	0.34179	-0.9839	9	0.72032	D	0.01	.	3.328	0.07074	0.6274:0.2408:0.1318:0.0	.	190	Q8NFZ6	VN1R2_HUMAN	A	190	ENSP00000351244:T190A	ENSP00000351244:T190A	T	+	1	0	VN1R2	58454008	0.001000	0.12720	0.022000	0.16811	0.022000	0.10575	0.059000	0.14322	0.560000	0.29169	0.486000	0.48141	ACC		0.488	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		47	213	0	0	0	1	0	47	213					G	53762196	A	G	53762196	3	3	79	1	0	0	0	0	1	0	0	0	17233	159	6	4	570	4	VN1R2	19	53762196	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15150	53762196	5366787	19669	29986											
VN1R2	317701	broad.mit.edu	37	chr19	53762652	53762652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acgtttatttagctctcttcGataattccagttggtggcta	8	8	1	0	rs377201936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762652G>A	ENST00000341702.3	+	1	1108	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	342					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)		AGCTCTCTTCGATAATTCCAG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21784	0.0		0.0	False		,,,				2504	0.001					ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1024-1026)Gat>Aat		vomeronasal 1 receptor 2		G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	256	229	238		1024	-1	0	19		238	0,8600		0,0,4300	no	missense	VN1R2	NM_173856.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	342/396	53762652	1,13005	2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762652G>A	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.1024G>A	19.37:g.53762652G>A	ENSP00000351244:p.Asp342Asn					VN1R2_ENST00000598458.1_Intron	p.D342N	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1108	+			342					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1024G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933902	0.18206	2.27E-4	0.0	ENSG00000196131	ENST00000341702	T	0.37058	1.22	2.79	-0.988	0.10245	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14313	0.0346	N	0.12637	0.245	0.09310	N	1	P	0.37663	0.604	B	0.34452	0.183	T	0.18147	-1.0346	9	0.16420	T	0.52	.	3.4714	0.07569	0.1348:0.0:0.4225:0.4427	.	342	Q8NFZ6	VN1R2_HUMAN	N	342	ENSP00000351244:D342N	ENSP00000351244:D342N	D	+	1	0	VN1R2	58454464	0.000000	0.05858	0.000000	0.03702	0.354000	0.29330	-2.130000	0.01312	-0.080000	0.12685	0.590000	0.80494	GAT		0.463	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		206	866	0	0	0	1	0	206	866					A	53762652	G	A	53762652	3	1	79	1	0	0	0	0	1	0	0	0	17233	1058	37	1	1026	1	VN1R2	19	53762652	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	456	53762652	5366331	19670	29987											
BIRC8	112401	broad.mit.edu	37	chr19	53793138	53793138	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caatgaagtctgattcaattCattttctgtagtgtctttct	6	7	6	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53793138C>A	ENST00000426466.1	-	1	1737	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	164					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)		TGATTCAATTCATTTTCTGTA	0.418																																						ENST00000426466.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19						c.(490-492)Gaa>Taa		baculoviral IAP repeat containing 8							91	91	91					19																	53793138		2203	4300	6503	SO:0001587	stop_gained	112401				apoptosis		zinc ion binding	g.chr19:53793138C>A	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.490G>T	19.37:g.53793138C>A	ENSP00000412957:p.Glu164*						p.E164*	NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1737	-			164					Q6IPY1|Q96RW5	Nonsense_Mutation	SNP	ENST00000426466.1	37	c.490G>T	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	43	10.294075	0.99377	.	.	ENSG00000163098	ENST00000426466	.	.	.	0.502	0.502	0.16932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-7.5152	6.9506	0.24542	0.0:0.9999:0.0:1.0E-4	.	.	.	.	X	164	.	ENSP00000412957:E164X	E	-	1	0	BIRC8	58484950	0.163000	0.22920	0.023000	0.16930	0.013000	0.08279	1.173000	0.31920	0.578000	0.29487	0.420000	0.28162	GAA		0.418	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		86	402	1	0	1.32003e-40	1	1.60129e-40	86	402					A	53793138	C	A	53793138	4	1	79	1	0	0	0	0	0	1	0	0	1442	835	29	3	224	3	BIRC8	19	53793138	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30486	53793138	5335845	19671	29988											
ZNF845	91664	broad.mit.edu	37	chr19	53854087	53854087	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagatatctcttccaaatgCatgatgaaggagttctcatc	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854087C>T	ENST00000595091.1	+	5	378	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ZNF845_ENST00000458035.1_Silent_p.C53C			Q96IR2	ZN845_HUMAN	zinc finger protein 845	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)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTCCAAATGCATGATGAAGG	0.353																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(157-159)tgC>tgT		zinc finger protein 845							36	25	29					19																	53854087		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854087C>T	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.159C>T	19.37:g.53854087C>T						ZNF845_ENST00000595091.1_Silent_p.C53C	p.C53C	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	276	+			53			KRAB.			Silent	SNP	ENST00000595091.1	37	c.159C>T	CCDS46170.1																																																																																				0.353	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		98	483	0	0	0	1	0	98	483					T	53854087	C	T	53854087	2	4	79	1	0	0	0	0	0	0	0	1	18244	718	25	2		2	ZNF845	19	53854087	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60949	53854087	5274896	19672	29989											
ZNF845	91664	broad.mit.edu	37	chr19	53854630	53854630	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagtcttaaggaaacatcaGataatccatttaggagcgaa	8	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854630G>T	ENST00000595091.1	+	5	921	c.702G>T	c.(700-702)caG>caT	p.Q234H	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q234H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	234					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						GGAAACATCAGATAATCCATT	0.373																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(700-702)caG>caT		zinc finger protein 845							90	74	79					19																	53854630		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854630G>T	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.702G>T	19.37:g.53854630G>T	ENSP00000470005:p.Gln234His					ZNF845_ENST00000595091.1_Missense_Mutation_p.Q234H	p.Q234H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	819	+			234						Missense_Mutation	SNP	ENST00000595091.1	37	c.702G>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	6.730	0.503524	0.12822	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.18502	2.21	2.05	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	L	0.57130	1.785	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.40308	-0.9570	9	0.54805	T	0.06	.	0.3104	0.00287	0.3771:0.1976:0.2259:0.1993	.	234	Q96IR2	ZN845_HUMAN	H	234	ENSP00000388311:Q234H	ENSP00000412086:Q234H	Q	+	3	2	ZNF845	58546442	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	0.337000	0.19841	-0.199000	0.10317	0.205000	0.17691	CAG		0.373	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		74	309	1	0	1.26778e-28	1	1.47706e-28	74	309					T	53854630	G	T	53854630	3	4	79	1	0	0	0	0	1	0	0	0	18244	933	33	3	712	3	ZNF845	19	53854630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	543	53854630	5274353	19673	29990											
ZNF845	91664	broad.mit.edu	37	chr19	53855359	53855359	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gattgtggcaagaccttcagTcagacatcatcccttgtata	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855359T>C	ENST00000595091.1	+	5	1650	c.1431T>C	c.(1429-1431)agT>agC	p.S477S	ZNF845_ENST00000458035.1_Silent_p.S477S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGACCTTCAGTCAGACATCAT	0.383																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1429-1431)agT>agC		zinc finger protein 845							33	30	31					19																	53855359		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855359T>C	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.1431T>C	19.37:g.53855359T>C						ZNF845_ENST00000595091.1_Silent_p.S477S	p.S477S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1548	+			477						Silent	SNP	ENST00000595091.1	37	c.1431T>C	CCDS46170.1																																																																																				0.383	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		73	350	0	0	0	1	0	73	350					C	53855359	T	C	53855359	2	2	79	1	0	0	0	0	0	0	0	1	18244	1664	58	4		4	ZNF845	19	53855359	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	729	53855359	5273624	19674	29991											
ZNF845	91664	broad.mit.edu	37	chr19	53855474	53855474	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accttgaaagacataggataAttcatactggagagaaactt	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855474A>C	ENST00000595091.1	+	5	1765	c.1546A>C	c.(1546-1548)Att>Ctt	p.I516L	ZNF845_ENST00000458035.1_Missense_Mutation_p.I516L			Q96IR2	ZN845_HUMAN	zinc finger protein 845	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATAGGATAATTCATACTGG	0.378																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1546-1548)Att>Ctt		zinc finger protein 845							25	23	24					19																	53855474		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855474A>C	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.1546A>C	19.37:g.53855474A>C	ENSP00000470005:p.Ile516Leu					ZNF845_ENST00000595091.1_Missense_Mutation_p.I516L	p.I516L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1663	+			516						Missense_Mutation	SNP	ENST00000595091.1	37	c.1546A>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.335541	0.24253	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07327	3.2	2.04	-0.274	0.12910	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.17379	0.485	0.09310	N	1	B	0.17667	0.023	B	0.32533	0.147	T	0.46162	-0.9211	9	0.37606	T	0.19	.	5.6646	0.17689	0.7162:0.0:0.2837:0.0	.	516	Q96IR2	ZN845_HUMAN	L	516	ENSP00000388311:I516L	ENSP00000412086:I516L	I	+	1	0	ZNF845	58547286	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	0.556000	0.23438	-0.291000	0.09012	0.333000	0.21579	ATT		0.378	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		61	305	0	0	0	1	0	61	305					C	53855474	A	C	53855474	3	2	79	1	0	0	0	0	1	0	0	0	18244	101	4	4	1556	4	ZNF845	19	53855474	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	115	53855474	5273509	19675	29992											
ZNF845	91664	broad.mit.edu	37	chr19	53855957	53855957	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacctttagtcggaagtcaTaccttacatgccatcgtaga	8	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855957T>C	ENST00000595091.1	+	5	2248	c.2029T>C	c.(2029-2031)Tac>Cac	p.Y677H	ZNF845_ENST00000458035.1_Missense_Mutation_p.Y677H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	677				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						TCGGAAGTCATACCTTACATG	0.398																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2029-2031)Tac>Cac		zinc finger protein 845							60	58	59					19																	53855957		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855957T>C	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.2029T>C	19.37:g.53855957T>C	ENSP00000470005:p.Tyr677His					ZNF845_ENST00000595091.1_Missense_Mutation_p.Y677H	p.Y677H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2146	+			677	Missing (in Ref. 1; BAG58121).					Missense_Mutation	SNP	ENST00000595091.1	37	c.2029T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.885213	0.00532	.	.	ENSG00000213799	ENST00000458035	T	0.07444	3.19	2.22	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02230	0.0069	N	0.03281	-0.365	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.32375	-0.9909	9	0.07813	T	0.8	.	0.9943	0.01463	0.2782:0.3475:0.136:0.2383	.	677	Q96IR2	ZN845_HUMAN	H	677	ENSP00000388311:Y677H	ENSP00000388311:Y677H	Y	+	1	0	ZNF845	58547769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.301000	0.00000	-3.227000	0.00210	-1.526000	0.00926	TAC		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		104	432	0	0	0	1	0	104	432					C	53855957	T	C	53855957	3	2	79	1	0	0	0	0	1	0	0	0	18244	1406	49	4	2039	4	ZNF845	19	53855957	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	483	53855957	5273026	19676	29993											
ZNF765	91661	broad.mit.edu	37	chr19	53912333	53912333	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagtttcaaatcaaacCttgaaagacataggagaatt	6	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53912333C>A	ENST00000396408.3	+	4	1642	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAATCAAACCTTGAAAGACA	0.408																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(1525-1527)Ctt>Att		zinc finger protein 765							34	36	35					19																	53912333		2167	4284	6451	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53912333C>A	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.1525C>A	19.37:g.53912333C>A	ENSP00000379689:p.Leu509Ile					ZNF765_ENST00000594030.1_Intron	p.L509I	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	1642	+			509					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.1525C>A	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	-	11.43	1.636833	0.29068	.	.	ENSG00000196417	ENST00000396408	T	0.41065	1.01	1.27	-0.14	0.13456	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65281	0.2676	M	0.92880	3.355	0.09310	N	1	B	0.33940	0.433	P	0.54210	0.745	T	0.62558	-0.6829	8	.	.	.	.	6.239	0.20778	0.0:0.6819:0.3181:0.0	.	509	Q7L2R6	ZN765_HUMAN	I	509	ENSP00000379689:L509I	.	L	+	1	0	ZNF765	58604145	0.007000	0.16637	0.000000	0.03702	0.031000	0.12232	0.205000	0.17356	-0.241000	0.09681	0.297000	0.19635	CTT		0.408	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		47	193	1	0	3.4345e-17	1	3.7875e-17	47	193					A	53912333	C	A	53912333	3	1	79	1	0	0	0	0	1	0	0	0	18192	681	24	3	1535	3	ZNF765	19	53912333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56376	53912333	5216650	19677	29994											
ZNF761	388561	broad.mit.edu	37	chr19	53959326	53959326	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatactggagagaaagcttAcaagtgtaatgagtgcggca	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53959326A>G	ENST00000454407.1	+	0	2018							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAAAGCTTACAAGTGTAAT	0.438																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							104	100	102					19																	53959326		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959326A>G	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.53959326A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2018	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.438	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		115	469	0	0	0	1	0	115	469					G	53959326	A	G	53959326	1	3	79	0	1	0	0	0	0	0	0	0	18189	391	14	4		4	ZNF761	19	53959326	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	46993	53959326	5169657	19678	29995											
ZNF813	126017	broad.mit.edu	37	chr19	53994876	53994876	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ataaggctattcatattggaGagaaacgttacaagtgtaat	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53994876G>A	ENST00000396403.4	+	4	1518	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	464					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)		TCATATTGGAGAGAAACGTTA	0.413																																						ENST00000396403.4																			0				large_intestine(1)	1						c.(1390-1392)Gag>Aag		zinc finger protein 813							65	69	68					19																	53994876		2196	4294	6490	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994876G>A	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.1390G>A	19.37:g.53994876G>A	ENSP00000379684:p.Glu464Lys					ZNF813_ENST00000396421.4_Intron	p.E464K	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1518	+			464						Missense_Mutation	SNP	ENST00000396403.4	37	c.1390G>A	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	16.35	3.099648	0.56183	.	.	ENSG00000198346	ENST00000396403	T	0.24350	1.86	1.32	-9.08E-4	0.14036	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33876	0.0878	L	0.47716	1.5	0.80722	D	1	D	0.54772	0.968	P	0.61592	0.891	T	0.18967	-1.0320	9	0.72032	D	0.01	.	6.6592	0.23004	0.1881:0.0:0.8119:0.0	.	464	Q6ZN06	ZN813_HUMAN	K	464	ENSP00000379684:E464K	ENSP00000379684:E464K	E	+	1	0	ZNF813	58686688	0.987000	0.35691	0.201000	0.23476	0.035000	0.12851	3.279000	0.51670	0.461000	0.27071	0.197000	0.17608	GAG		0.413	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		55	283	0	0	0	1	0	55	283					A	53994876	G	A	53994876	3	1	79	1	0	0	0	0	1	0	0	0	18228	943	33	2	1400	2	ZNF813	19	53994876	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35550	53994876	5134107	19679	29996											
ZNF331	55422	broad.mit.edu	37	chr19	54074947	54074947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagggacctgtactgggaCgtgatgctggagaactacag	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54074947C>T	ENST00000253144.9	+	6	1432	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	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)|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)		TGTACTGGGACGTGATGCTGG	0.522			T	?	follicular thyroid adenoma																																	ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(97-99)gaC>gaT		zinc finger protein 331							240	227	231					19																	54074947		2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54074947C>T	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.99C>T	19.37:g.54074947C>T						ZNF331_ENST00000449416.1_Silent_p.D33D|ZNF331_ENST00000513265.1_Silent_p.D33D|ZNF331_ENST00000511154.1_Silent_p.D33D|ZNF331_ENST00000512387.1_Silent_p.D33D|ZNF331_ENST00000511593.2_Silent_p.D33D|ZNF331_ENST00000411977.2_Silent_p.D33D|ZNF331_ENST00000513999.1_Silent_p.D33D	p.D33D	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	6	1432	+			33			KRAB.		Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.99C>T	CCDS33102.1																																																																																				0.522	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		204	915	0	0	0	1	0	204	915					T	54074947	C	T	54074947	2	4	79	1	0	0	0	0	0	0	0	1	17902	535	19	1		1	ZNF331	19	54074947	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80071	54074947	5054036	19680	29997											
ZNF331	55422	broad.mit.edu	37	chr19	54080543	54080543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacactggggagaaagactaCgaatgcaaagactgtgggaa	13	7	0	3	rs569571621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54080543C>T	ENST00000253144.9	+	7	2062	c.729C>T	c.(727-729)taC>taT	p.Y243Y	ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	243					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)		AGAAAGACTACGAATGCAAAG	0.463			T	?	follicular thyroid adenoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		19595	0.0		0.0	False		,,,				2504	0.0					ENST00000253144.9				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(727-729)taC>taT		zinc finger protein 331							62	67	65					19																	54080543		2203	4300	6503	SO:0001819	synonymous_variant	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080543C>T	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.729C>T	19.37:g.54080543C>T						ZNF331_ENST00000449416.1_Silent_p.Y243Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511154.1_Silent_p.Y243Y|ZNF331_ENST00000512387.1_Silent_p.Y243Y|ZNF331_ENST00000511593.2_Silent_p.Y243Y|ZNF331_ENST00000411977.2_Silent_p.Y243Y|ZNF331_ENST00000513999.1_Silent_p.Y243Y	p.Y243Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2062	+			243					Q96GJ4	Silent	SNP	ENST00000253144.9	37	c.729C>T	CCDS33102.1																																																																																				0.463	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		98	353	0	0	0	1	0	98	353					T	54080543	C	T	54080543	2	4	79	1	0	0	0	0	0	0	0	1	17902	547	19	1		1	ZNF331	19	54080543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5596	54080543	5048440	19681	29998											
DPRX	503834	broad.mit.edu	37	chr19	54137909	54137909	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcagaaagaaatggcctcGaaaatagacatacacccaac	6	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54137909G>A	ENST00000376650.1	+	2	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	51					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATGGCCTCGAAAATAGACA	0.433																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(151-153)tcG>tcA		divergent-paired related homeobox							108	96	100					19																	54137909		2203	4300	6503	SO:0001819	synonymous_variant	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54137909G>A		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.153G>A	19.37:g.54137909G>A							p.S51S	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	2	204	+	Ovarian(34;0.19)		51						Silent	SNP	ENST00000376650.1	37	c.153G>A	CCDS33103.1																																																																																				0.433	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		56	352	0	0	0	1	0	56	352					A	54137909	G	A	54137909	2	1	79	1	0	0	0	0	0	0	0	1	4754	1045	37	1		1	DPRX	19	54137909	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57366	54137909	4991074	19682	29999											
NLRP12	91662	broad.mit.edu	37	chr19	54308655	54308655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttattggctatgagagCtgcagagaggtcctcgcagg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54308655C>T	ENST00000324134.6	-	5	2461	c.2293G>A	c.(2293-2295)Gct>Act	p.A765T	NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	765					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)		GCTATGAGAGCTGCAGAGAGG	0.547																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2293-2295)Gct>Act		NLR family, pyrin domain containing 12							109	107	108					19																	54308655		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54308655C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2293G>A	19.37:g.54308655C>T	ENSP00000319377:p.Ala765Thr					NLRP12_ENST00000391772.1_Missense_Mutation_p.A766T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A765T|NLRP12_ENST00000351894.4_Missense_Mutation_p.A765T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A766T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A765T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A766T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A765T	p.A765T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	5	2461	-	Ovarian(34;0.19)		765					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2293G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900593	0.52227	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	3.32	3.32	0.38043	.	.	.	.	.	T	0.64227	0.2579	L	0.48986	1.54	0.19575	N	0.999967	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.939;0.997;0.998;0.999	T	0.50516	-0.8819	9	0.44086	T	0.13	.	10.3841	0.44129	0.0:1.0:0.0:0.0	.	766;48;765;765;765	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	T	765;765;765;765;48;765;766;766;766	ENSP00000319377:A765T;ENSP00000438030:A765T;ENSP00000340473:A765T;ENSP00000346231:A765T;ENSP00000375655:A765T;ENSP00000375653:A766T;ENSP00000375652:A766T	ENSP00000319377:A765T	A	-	1	0	NLRP12	59000467	0.018000	0.18449	0.017000	0.16124	0.245000	0.25701	2.587000	0.46128	1.893000	0.54813	0.289000	0.19496	GCT		0.547	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		134	625	0	0	0	1	0	134	625					T	54308655	C	T	54308655	3	4	79	1	0	0	0	0	1	0	0	0	10516	797	28	2	916	2	NLRP12	19	54308655	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170746	54308655	4820328	19683	30000											
NLRP12	91662	broad.mit.edu	37	chr19	54313231	54313231	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagtccaaacaggaagCggctggtgagtgccaggaag	16	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313231C>T	ENST00000324134.6	-	3	1850	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	561					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)		AAACAGGAAGCGGCTGGTGAG	0.612																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(1681-1683)cGc>cAc		NLR family, pyrin domain containing 12							85	80	82					19																	54313231		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313231C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1682G>A	19.37:g.54313231C>T	ENSP00000319377:p.Arg561His					NLRP12_ENST00000391772.1_Missense_Mutation_p.R561H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R561H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R561H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561H|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561H	p.R561H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1850	-	Ovarian(34;0.19)		561					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1682G>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	8.046	0.765011	0.15914	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39;-2.39;-2.39	4.05	1.75	0.24633	.	0.421101	0.17587	N	0.168891	D	0.83727	0.5317	M	0.70903	2.155	0.80722	D	1	B;B;B;B	0.25904	0.066;0.066;0.066;0.137	B;B;B;B	0.20184	0.008;0.008;0.008;0.028	T	0.71137	-0.4680	10	0.10636	T	0.68	.	7.3897	0.26903	0.0:0.7809:0.0:0.2191	.	561;561;561;561	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	H	561	ENSP00000319377:R561H;ENSP00000438030:R561H;ENSP00000340473:R561H;ENSP00000346231:R561H;ENSP00000375655:R561H;ENSP00000375653:R561H;ENSP00000375652:R561H	ENSP00000319377:R561H	R	-	2	0	NLRP12	59005043	0.031000	0.19500	0.454000	0.27019	0.181000	0.23173	0.717000	0.25851	0.270000	0.21984	0.485000	0.47835	CGC		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		96	520	0	0	0	1	0	96	520					T	54313231	C	T	54313231	3	4	79	1	0	0	0	0	1	0	0	0	10516	768	27	1	1631	1	NLRP12	19	54313231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4576	54313231	4815752	19684	30001											
NLRP12	91662	broad.mit.edu	37	chr19	54313950	54313950	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attaagctgttaagaagcagCtccgtgggccgtttctcctc	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313950C>T	ENST00000324134.6	-	3	1131	c.963G>A	c.(961-963)gaG>gaA	p.E321E	NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	321	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)		TAAGAAGCAGCTCCGTGGGCC	0.567																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(961-963)gaG>gaA		NLR family, pyrin domain containing 12							47	50	49					19																	54313950		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313950C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.963G>A	19.37:g.54313950C>T						NLRP12_ENST00000391772.1_Silent_p.E321E|NLRP12_ENST00000391775.3_Silent_p.E321E|NLRP12_ENST00000351894.4_Silent_p.E321E|NLRP12_ENST00000391773.1_Silent_p.E321E|NLRP12_ENST00000535162.1_Silent_p.E321E|NLRP12_ENST00000345770.5_Silent_p.E321E|NLRP12_ENST00000354278.3_Silent_p.E321E	p.E321E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1131	-	Ovarian(34;0.19)		321			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.963G>A	CCDS12864.1																																																																																				0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		91	308	0	0	0	1	0	91	308					T	54313950	C	T	54313950	2	4	79	1	0	0	0	0	0	0	0	1	10516	796	28	2		2	NLRP12	19	54313950	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	719	54313950	4815033	19685	30002											
MYADM	91663	broad.mit.edu	37	chr19	54377221	54377221	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccaccttcttctcctgcatCgcgtgtgtggcttacgccac	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377221C>T	ENST00000391769.2	+	3	718	c.438C>T	c.(436-438)atC>atT	p.I146I	MYADM_ENST00000336967.3_Silent_p.I146I|MYADM_ENST00000391770.4_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000391768.2_Silent_p.I146I|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	146	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTCCTGCATCGCGTGTGTGG	0.667																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(436-438)atC>atT		myeloid-associated differentiation marker							62	62	62					19																	54377221		2203	4300	6503	SO:0001819	synonymous_variant	91663					integral to membrane		g.chr19:54377221C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.438C>T	19.37:g.54377221C>T						MYADM_ENST00000391770.4_Silent_p.I146I|MYADM_ENST00000391768.2_Silent_p.I146I|MYADM_ENST00000391771.1_Silent_p.I146I|MYADM_ENST00000336967.3_Silent_p.I146I	p.I146I	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	718	+	Ovarian(34;0.19)		146			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	c.438C>T	CCDS12866.1																																																																																				0.667	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		85	429	0	0	0	1	0	85	429					T	54377221	C	T	54377221	2	4	79	1	0	0	0	0	0	0	0	1	10047	874	31	1		1	MYADM	19	54377221	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63271	54377221	4751762	19686	30003											
MYADM	91663	broad.mit.edu	37	chr19	54377236	54377236	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcgcgtgtgtggcttaCgccaccgaagtggcctggac	14	12	0	0	rs376434685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377236C>T	ENST00000391769.2	+	3	733	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_ENST00000336967.3_Silent_p.Y151Y|MYADM_ENST00000391770.4_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000391768.2_Silent_p.Y151Y|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	151	MARVEL 1. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGTGGCTTACGCCACCGAAG	0.652																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(451-453)taC>taT		myeloid-associated differentiation marker		C	,,,,	0,4406		0,0,2203	54	55	54		453,453,453,453,453	-5.3	0.1	19		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MYADM	NM_001020818.1,NM_001020819.1,NM_001020820.1,NM_001020821.1,NM_138373.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	151/323,151/323,151/323,151/323,151/323	54377236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	91663					integral to membrane		g.chr19:54377236C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.453C>T	19.37:g.54377236C>T						MYADM_ENST00000391770.4_Silent_p.Y151Y|MYADM_ENST00000391768.2_Silent_p.Y151Y|MYADM_ENST00000391771.1_Silent_p.Y151Y|MYADM_ENST00000336967.3_Silent_p.Y151Y	p.Y151Y	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	733	+	Ovarian(34;0.19)		151			MARVEL 1.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	c.453C>T	CCDS12866.1																																																																																				0.652	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		79	415	0	0	0	1	0	79	415					T	54377236	C	T	54377236	2	4	79	1	0	0	0	0	0	0	0	1	10047	547	19	1		1	MYADM	19	54377236	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15	54377236	4751747	19687	30004											
MYADM	91663	broad.mit.edu	37	chr19	54377422	54377422	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggtgtacgccatctgCttcatcctagcggccatcgc	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377422C>T	ENST00000391769.2	+	3	919	c.639C>T	c.(637-639)tgC>tgT	p.C213C	MYADM_ENST00000336967.3_Silent_p.C213C|MYADM_ENST00000391770.4_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000391768.2_Silent_p.C213C|AC008440.5_ENST00000413496.2_RNA	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	213	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACGCCATCTGCTTCATCCTAG	0.627																																						ENST00000391769.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(637-639)tgC>tgT		myeloid-associated differentiation marker							150	129	136					19																	54377422		2203	4300	6503	SO:0001819	synonymous_variant	91663					integral to membrane		g.chr19:54377422C>T	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.639C>T	19.37:g.54377422C>T						MYADM_ENST00000391770.4_Silent_p.C213C|MYADM_ENST00000391768.2_Silent_p.C213C|MYADM_ENST00000391771.1_Silent_p.C213C|MYADM_ENST00000336967.3_Silent_p.C213C	p.C213C	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	919	+	Ovarian(34;0.19)		213			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Silent	SNP	ENST00000391769.2	37	c.639C>T	CCDS12866.1																																																																																				0.627	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1	NM_138373		164	638	0	0	0	1	0	164	638					T	54377422	C	T	54377422	2	4	79	1	0	0	0	0	0	0	0	1	10047	805	28	2		2	MYADM	19	54377422	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186	54377422	4751561	19688	30005											
PRKCG	5582	broad.mit.edu	37	chr19	54401709	54401709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataggtgatgctggccgagCgcaggggctctgatgagctc	16	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54401709C>T	ENST00000263431.3	+	11	1390	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	370	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GCTGGCCGAGCGCAGGGGCTC	0.577																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1108-1110)Cgc>Tgc		protein kinase C, gamma							59	54	56					19																	54401709		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401709C>T	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.1108C>T	19.37:g.54401709C>T	ENSP00000263431:p.Arg370Cys					PRKCG_ENST00000542049.1_Missense_Mutation_p.R257C|PRKCG_ENST00000536044.1_3'UTR|PRKCG_ENST00000540413.1_Missense_Mutation_p.R370C	p.R370C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	11	1390	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		370			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1108C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224028	0.79576	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.66995	-0.24;-0.24;-0.24	5.07	5.07	0.68467	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	0.68696	0.3029	L	0.31476	0.935	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.997	P;P;P	0.61800	0.894;0.819;0.887	T	0.71523	-0.4567	9	0.87932	D	0	.	11.434	0.50058	0.1803:0.8197:0.0:0.0	.	257;370;370	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	370;370;257	ENSP00000443493:R370C;ENSP00000263431:R370C;ENSP00000438090:R257C	ENSP00000263431:R370C	R	+	1	0	PRKCG	59093521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.669000	0.37492	2.528000	0.85240	0.561000	0.74099	CGC		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		11	304	0	0	0	1	0	11	304					T	54401709	C	T	54401709	3	4	79	1	0	0	0	0	1	0	0	0	12559	768	27	1	1150	1	PRKCG	19	54401709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24287	54401709	4727274	19689	30006											
PRKCG	5582	broad.mit.edu	37	chr19	54403724	54403724	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttccttcacaatcagggCatcatctacaggtgagcagc	8	12	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54403724C>T	ENST00000263431.3	+	13	1707	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACAATCAGGGCATCATCTACA	0.552																																						ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(1423-1425)ggC>ggT		protein kinase C, gamma							57	59	58					19																	54403724		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403724C>T	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.1425C>T	19.37:g.54403724C>T						PRKCG_ENST00000542049.1_Silent_p.G362G|PRKCG_ENST00000540413.1_Silent_p.G475G	p.G475G	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	13	1707	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		475			Protein kinase.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.1425C>T	CCDS12867.1																																																																																				0.552	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		39	229	0	0	0	1	0	39	229					T	54403724	C	T	54403724	2	4	79	1	0	0	0	0	0	0	0	1	12559	697	25	2		2	PRKCG	19	54403724	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2015	54403724	4725259	19690	30007											
VSTM1	284415	broad.mit.edu	37	chr19	54544247	54544247	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcatattcatgagatcCtgggggctcctgggtggtgt	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544247C>A	ENST00000338372.2	-	9	854	c.679G>T	c.(679-681)Gga>Tga	p.G227*	VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*|VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	227					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCATGAGATCCTGGGGGCTCC	0.557																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(679-681)Gga>Tga		V-set and transmembrane domain containing 1							62	57	58					19																	54544247		2203	4300	6503	SO:0001587	stop_gained	284415					integral to membrane		g.chr19:54544247C>A	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.679G>T	19.37:g.54544247C>A	ENSP00000343366:p.Gly227*					VSTM1_ENST00000366170.2_Nonsense_Mutation_p.G139*|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.G196*	p.G227*	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	854	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		227					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Nonsense_Mutation	SNP	ENST00000338372.2	37	c.679G>T	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006827	0.35415	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	.	.	.	2.63	0.503	0.16940	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.7657	0.13130	0.0:0.6976:0.0:0.3024	.	.	.	.	X	117;227;196;139	.	ENSP00000343366:G227X	G	-	1	0	VSTM1	59236059	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.748000	0.26305	0.222000	0.20900	-0.259000	0.10710	GGA		0.557	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		34	154	1	0	3.03874e-20	1	3.40186e-20	34	154					A	54544247	C	A	54544247	4	1	79	1	0	0	0	0	0	1	0	0	17282	690	24	3	35	3	VSTM1	19	54544247	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140523	54544247	4584736	19691	30008											
VSTM1	284415	broad.mit.edu	37	chr19	54544318	54544318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttagctcagcataggtcactCcttgggggtctgccgtcttt	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544318C>T	ENST00000338372.2	-	9	783	c.608G>A	c.(607-609)gGa>gAa	p.G203E	VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E|VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000425006.2_3'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	203					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATAGGTCACTCCTTGGGGGTC	0.493																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(607-609)gGa>gAa		V-set and transmembrane domain containing 1							40	37	38					19																	54544318		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54544318C>T	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.608G>A	19.37:g.54544318C>T	ENSP00000343366:p.Gly203Glu					VSTM1_ENST00000366170.2_Missense_Mutation_p.G115E|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.G172E	p.G203E	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	783	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		203					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.608G>A	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	5.636	0.302002	0.10678	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.49720	1.4;7.0;5.9;0.77	2.67	-2.75	0.05914	.	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	0.999997	B;B	0.22080	0.023;0.064	B;B	0.17433	0.01;0.018	T	0.32348	-0.9910	9	0.02654	T	1	.	6.9053	0.24305	0.0:0.3799:0.0:0.6201	.	172;203	D2DJS4;Q6UX27	.;VSTM1_HUMAN	E	93;203;172;115	ENSP00000409412:G93E;ENSP00000343366:G203E;ENSP00000365813:G172E;ENSP00000444153:G115E	ENSP00000343366:G203E	G	-	2	0	VSTM1	59236130	0.001000	0.12720	0.001000	0.08648	0.449000	0.32228	-1.834000	0.01693	-0.510000	0.06523	0.585000	0.79938	GGA		0.493	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		24	75	0	0	0	1	0	24	75					T	54544318	C	T	54544318	3	4	79	1	0	0	0	0	1	0	0	0	17282	855	30	2	106	2	VSTM1	19	54544318	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	71	54544318	4584665	19692	30009											
OSCAR	126014	broad.mit.edu	37	chr19	54600355	54600355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatctccaagcgggttggGgtgcccggcatctcaaggtc	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54600355G>A	ENST00000284648.6	-	4	364	c.167C>T	c.(166-168)cCc>cTc	p.P56L	OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	56	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGCGGGTTGGGGTGCCCGGCA	0.587																																						ENST00000284648.6																			0				large_intestine(1)|skin(1)	2						c.(166-168)cCc>cTc		osteoclast associated, immunoglobulin-like receptor							73	76	75					19																	54600355		2203	4300	6503	SO:0001583	missense	126014					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr19:54600355G>A	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.167C>T	19.37:g.54600355G>A	ENSP00000365808:p.Pro56Leu					OSCAR_ENST00000356532.3_Missense_Mutation_p.P60L|OSCAR_ENST00000391761.1_Missense_Mutation_p.P45L|OSCAR_ENST00000351806.4_Missense_Mutation_p.P45L|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000358375.4_Missense_Mutation_p.P56L|OSCAR_ENST00000359649.4_Missense_Mutation_p.P60L	p.P56L			Q8IYS5	OSCAR_HUMAN			4	364	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		56			Ig-like 1.		B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Missense_Mutation	SNP	ENST00000284648.6	37	c.167C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.887743	0.52014	.	.	ENSG00000170909	ENST00000391761;ENST00000356532;ENST00000359649;ENST00000358375;ENST00000351806;ENST00000284648	T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56	4.05	2.99	0.34606	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.372474	0.19477	U	0.113310	T	0.29288	0.0729	M	0.73372	2.23	0.20489	N	0.999894	D;P;D;D;D;D	0.71674	0.998;0.889;0.982;0.99;0.993;0.976	D;P;P;P;P;P	0.66716	0.946;0.805;0.864;0.859;0.817;0.795	T	0.02075	-1.1218	10	0.52906	T	0.07	.	7.0457	0.25044	0.1264:0.0:0.8736:0.0	.	56;45;45;60;56;60	Q8IYS5;Q8IYS5-4;Q8IYS5-6;Q8IYS5-7;Q8IYS5-2;Q8IYS5-3	OSCAR_HUMAN;.;.;.;.;.	L	45;60;60;56;45;56	ENSP00000375641:P45L;ENSP00000348927:P60L;ENSP00000352671:P60L;ENSP00000351145:P56L;ENSP00000304523:P45L;ENSP00000365808:P56L	ENSP00000365808:P56L	P	-	2	0	OSCAR	59292167	0.440000	0.25618	0.560000	0.28344	0.566000	0.35808	2.588000	0.46137	2.001000	0.58596	0.585000	0.79938	CCC		0.587	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169		98	541	0	0	0	1	0	98	541					A	54600355	G	A	54600355	3	1	79	1	0	0	0	0	1	0	0	0	11327	1232	43	2	830	2	OSCAR	19	54600355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56037	54600355	4528628	19693	30010											
CNOT3	4849	broad.mit.edu	37	chr19	54647751	54647751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctctacagcaaatggaaCggttcaaagttgtggaacga	10	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54647751C>T	ENST00000406403.1	+	5	1871	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	90					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAAATGGAACGGTTCAAAGT	0.557																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(268-270)Cgg>Tgg		CCR4-NOT transcription complex, subunit 3							82	83	83					19																	54647751		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54647751C>T	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.268C>T	19.37:g.54647751C>T	ENSP00000383954:p.Arg90Trp					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R90W	p.R90W			O75175	CNOT3_HUMAN			5	1871	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		90					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.268C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736368	0.69189	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.53423	0.62;0.62	5.28	2.95	0.34219	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.73398	-0.3995	10	0.87932	D	0	-32.5338	11.5923	0.50953	0.5082:0.4918:0.0:0.0	.	90;90;14	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	90	ENSP00000221232:R90W;ENSP00000383954:R90W	ENSP00000221232:R90W	R	+	1	2	CNOT3	59339563	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.363000	0.44178	1.327000	0.45338	0.655000	0.94253	CGG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		77	441	0	0	0	1	0	77	441					T	54647751	C	T	54647751	3	4	79	1	0	0	0	0	1	0	0	0	3629	527	19	1	286	1	CNOT3	19	54647751	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47396	54647751	4481232	19694	30011											
CNOT3	4849	broad.mit.edu	37	chr19	54649380	54649380	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcacatcgagaagcaccGctaccacgtgcgcatgctag	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54649380G>A	ENST00000406403.1	+	7	2133	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	177					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)					GAGAAGCACCGCTACCACGTG	0.607																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(529-531)cGc>cAc		CCR4-NOT transcription complex, subunit 3							143	94	111					19																	54649380		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649380G>A	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.530G>A	19.37:g.54649380G>A	ENSP00000383954:p.Arg177His					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R177H	p.R177H			O75175	CNOT3_HUMAN			7	2133	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		177					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.530G>A	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.011912|5.011912	0.93346|0.93346	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.48201	.|0.82;0.82	4.73|4.73	4.73|4.73	0.59995|0.59995	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.997;0.997;0.999	T|T	0.68224|0.68224	-0.5465|-0.5465	5|10	.|0.87932	.|D	.|0	-25.8557|-25.8557	17.3261|17.3261	0.87248|0.87248	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|177;177;101	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	T|H	99|177	.|ENSP00000221232:R177H;ENSP00000383954:R177H	.|ENSP00000221232:R177H	A|R	+|+	1|2	0|0	CNOT3|CNOT3	59341192|59341192	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	9.430000|9.430000	0.97488|0.97488	2.567000|2.567000	0.86603|0.86603	0.609000|0.609000	0.83330|0.83330	GCT|CGC		0.607	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		39	158	0	0	0	1	0	39	158					A	54649380	G	A	54649380	3	1	79	1	0	0	0	0	1	0	0	0	3629	1087	38	1	556	1	CNOT3	19	54649380	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1629	54649380	4479603	19695	30012											
CNOT3	4849	broad.mit.edu	37	chr19	54652176	54652176	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccccagcgtccagcctagCggaggcggaggcggcggcag	17	16	0	0	rs370903869	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54652176C>T	ENST00000406403.1	+	10	2791	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	CNOT3_ENST00000221232.5_Silent_p.S396S|CNOT3_ENST00000358389.3_Silent_p.S215S			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	396					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)					TCCAGCCTAgcggaggcggag	0.706													C|||	3	0.000599042	0.0008	0.0	5008	,	,		9878	0.0		0.001	False		,,,				2504	0.001					ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(1186-1188)agC>agT		CCR4-NOT transcription complex, subunit 3		C		3,4053		0,3,2025	6	8	7		1188	-3.9	0	19		7	2,7984		0,2,3991	no	coding-synonymous	CNOT3	NM_014516.3		0,5,6016	TT,TC,CC		0.025,0.074,0.0415		396/754	54652176	5,12037	2028	3993	6021	SO:0001819	synonymous_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54652176C>T	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.1188C>T	19.37:g.54652176C>T						CNOT3_ENST00000358389.3_Silent_p.S215S|CNOT3_ENST00000221232.5_Silent_p.S396S	p.S396S			O75175	CNOT3_HUMAN			10	2791	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		396					Q9NZN7|Q9UF76	Silent	SNP	ENST00000406403.1	37	c.1188C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	c	0.073	-1.198728	0.01581	7.4E-4	2.5E-4	ENSG00000088038	ENST00000440571	.	.	.	3.15	-3.94	0.04130	.	.	.	.	.	T	0.21631	0.0521	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.30446	-0.9978	4	.	.	.	-2.0331	5.4076	0.16330	0.0:0.3536:0.1466:0.4998	.	.	.	.	V	318	.	.	A	+	2	0	CNOT3	59343988	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	-1.357000	0.02607	-0.906000	0.03866	-0.436000	0.05848	GCG		0.706	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		25	91	0	0	0	1	0	25	91					T	54652176	C	T	54652176	2	4	79	1	0	0	0	0	0	0	0	1	3629	767	27	1		1	CNOT3	19	54652176	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2796	54652176	4476807	19696	30013											
CNOT3	4849	broad.mit.edu	37	chr19	54659048	54659048	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgccttctcccccggccaggGcacctacatctactttgact	7	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	ENST00000406403.1	+	17	3768	c.2165G>T	c.(2164-2166)gGc>gTc	p.G722V	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.G722V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	722	Repressor domain.				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)					CCCGGCCAGGGCACCTACATC	0.592																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.e17-1		CCR4-NOT transcription complex, subunit 3							68	55	59					19																	54659048		2203	4300	6503	SO:0001630	splice_region_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54659048G>T	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.2164-1G>T	19.37:g.54659048G>T						LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Splice_Site_p.G722_splice	p.G722_splice			O75175	CNOT3_HUMAN			17	3768	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		722					Q9NZN7|Q9UF76	Splice_Site	SNP	ENST00000406403.1	37	c.2163_splice	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770074	0.90108	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.61274	0.12;0.12;0.12	4.49	4.49	0.54785	NOT2/NOT3/NOT5 (1);	0.065863	0.64402	D	0.000017	D	0.82747	0.5104	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.88337	0.2972	10	0.87932	D	0	-29.4252	16.5216	0.84318	0.0:0.0:1.0:0.0	.	722	O75175	CNOT3_HUMAN	V	722;722;57	ENSP00000221232:G722V;ENSP00000383954:G722V;ENSP00000420064:G57V	ENSP00000221232:G722V	G	+	2	0	CNOT3	59350860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.110000	0.94302	2.503000	0.84419	0.561000	0.74099	GGC		0.592	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	Missense_Mutation	16	105	1	0	2.23348e-06	1	2.30073e-06	16	105					T	54659048	G	T	54659048	5	4	79	1	0	0	0	0	0	0	1	0	3629	1217	42	3	2231	3	CNOT3	19	54659048	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6872	54659048	4469935	19697	30014											
CNOT3	4849	broad.mit.edu	37	chr19	54659086	54659086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actacgagaagtggggccagCggaagaaggaaggcttcacc	15	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659086C>T	ENST00000406403.1	+	17	3806	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	735	Repressor domain.				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)					GTGGGGCCAGCGGAAGAAGGA	0.637																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(2203-2205)Cgg>Tgg		CCR4-NOT transcription complex, subunit 3							83	67	73					19																	54659086		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54659086C>T	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.2203C>T	19.37:g.54659086C>T	ENSP00000383954:p.Arg735Trp					LENG1_ENST00000222224.3_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R735W	p.R735W			O75175	CNOT3_HUMAN			17	3806	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		735					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.2203C>T	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906876	0.72868	.	.	ENSG00000088038	ENST00000221232;ENST00000406403;ENST00000471126	T;T;T	0.49720	0.77;0.77;0.77	4.77	1.38	0.22167	NOT2/NOT3/NOT5 (1);	0.141024	0.42821	D	0.000656	T	0.54775	0.1879	H	0.95437	3.67	0.80722	D	1	B	0.18310	0.027	B	0.17722	0.019	T	0.55541	-0.8125	10	0.87932	D	0	-20.1511	5.2967	0.15756	0.2816:0.562:0.0:0.1564	.	735	O75175	CNOT3_HUMAN	W	735;735;70	ENSP00000221232:R735W;ENSP00000383954:R735W;ENSP00000420064:R70W	ENSP00000221232:R735W	R	+	1	2	CNOT3	59350898	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.468000	0.35332	0.312000	0.23038	0.561000	0.74099	CGG		0.637	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		15	102	0	0	0	1	0	15	102					T	54659086	C	T	54659086	3	4	79	1	0	0	0	0	1	0	0	0	3629	759	27	1	2269	1	CNOT3	19	54659086	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	54659086	4469897	19698	30015											
LENG1	79165	broad.mit.edu	37	chr19	54660522	54660522	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttgggtcgctgcttctcaGacccctccttttcctttctg	7	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54660522G>T	ENST00000222224.3	-	3	740	c.554C>A	c.(553-555)tCt>tAt	p.S185Y		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	185										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGCTTCTCAGACCCCTCCTT	0.617																																						ENST00000222224.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8						c.(553-555)tCt>tAt		leukocyte receptor cluster (LRC) member 1							105	94	97					19																	54660522		2203	4300	6503	SO:0001583	missense	79165							g.chr19:54660522G>T	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.554C>A	19.37:g.54660522G>T	ENSP00000222224:p.Ser185Tyr						p.S185Y	NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN			3	740	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		185					Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	37	c.554C>A	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421078	0.42918	.	.	ENSG00000105617	ENST00000222224	T	0.47869	0.83	5.07	-1.7	0.08159	.	3.044690	0.00990	N	0.003510	T	0.32194	0.0821	N	0.17838	0.53	0.09310	N	1	B	0.19583	0.037	B	0.23275	0.045	T	0.26430	-1.0103	10	0.59425	D	0.04	20.2453	3.3208	0.07049	0.0824:0.2918:0.3611:0.2647	.	185	Q96BZ8	LENG1_HUMAN	Y	185	ENSP00000222224:S185Y	ENSP00000222224:S185Y	S	-	2	0	LENG1	59352334	0.000000	0.05858	0.000000	0.03702	0.825000	0.46686	0.409000	0.21082	-0.181000	0.10619	0.609000	0.83330	TCT		0.617	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		15	590	1	0	8.60227e-14	1	9.30909e-14	15	590					T	54660522	G	T	54660522	3	4	79	1	0	0	0	0	1	0	0	0	8754	942	33	3	248	3	LENG1	19	54660522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1436	54660522	4468461	19699	30016											
TMC4	147798	broad.mit.edu	37	chr19	54669172	54669172	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctttaattcgtacaagatgAtgcgctggcgcagccgcacg	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54669172A>G	ENST00000376591.4	-	6	1075	c.944T>C	c.(943-945)aTc>aCc	p.I315T	TMC4_ENST00000476013.2_Intron|TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.I309T	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	315					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)					GTACAAGATGATGCGCTGGCG	0.627																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(943-945)aTc>aCc		transmembrane channel-like 4							45	34	38					19																	54669172		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54669172A>G	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.944T>C	19.37:g.54669172A>G	ENSP00000365776:p.Ile315Thr					TMC4_ENST00000301187.4_Missense_Mutation_p.I309T|TMC4_ENST00000476013.2_Intron	p.I315T	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			6	1075	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		315					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.944T>C	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	A	7.863	0.726483	0.15439	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.48836	0.8;0.8	4.8	-9.6	0.00553	.	1.465370	0.03977	N	0.292608	T	0.22166	0.0534	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12156	0.004;0.007	T	0.11743	-1.0575	10	0.32370	T	0.25	1.9022	3.5511	0.07847	0.1261:0.1019:0.1674:0.6046	.	315;309	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	T	309;315	ENSP00000301187:I309T;ENSP00000365776:I315T	ENSP00000301187:I309T	I	-	2	0	TMC4	59360984	0.000000	0.05858	0.000000	0.03702	0.723000	0.41478	-3.812000	0.00360	-2.500000	0.00511	0.529000	0.55759	ATC		0.627	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			21	104	0	0	0	1	0	21	104					G	54669172	A	G	54669172	3	3	79	1	0	0	0	0	1	0	0	0	16039	333	12	4	1234	4	TMC4	19	54669172	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8650	54669172	4459811	19700	30017											
LILRA6	79168	broad.mit.edu	37	chr19	54742952	54742952	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agattctccactgtgtaatcCttggcgtgtgaggctgggga	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54742952C>A	ENST00000396365.2	-	8	1362	c.1323G>T	c.(1321-1323)aaG>aaT	p.K441N	LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	441					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)		CTGTGTAATCCTTGGCGTGTG	0.592																																						ENST00000396365.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1321-1323)aaG>aaT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							112	102	105					19																	54742952		2180	4298	6478	SO:0001583	missense	79168							g.chr19:54742952C>A	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.1323G>T	19.37:g.54742952C>A	ENSP00000379651:p.Lys441Asn					LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.K424N|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron	p.K441N	NM_024318.2	NP_077294.2				GBM - Glioblastoma multiforme(193;0.105)	8	1362	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.1323G>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	C	9.016	0.983783	0.18889	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00523	6.85;6.83	2.69	1.44	0.22558	.	.	.	.	.	T	0.00384	0.0012	L	0.34521	1.04	0.36748	D	0.882587	B	0.12630	0.006	B	0.04013	0.001	T	0.58526	-0.7621	9	0.66056	D	0.02	.	4.9023	0.13781	0.0:0.7616:0.0:0.2384	.	441	Q6PI73	LIRA6_HUMAN	N	441;424	ENSP00000379651:K441N;ENSP00000245621:K424N	ENSP00000245621:K424N	K	-	3	2	LILRA6	59434764	0.014000	0.17966	0.096000	0.21009	0.039000	0.13416	-0.216000	0.09266	0.255000	0.21593	0.174000	0.16983	AAG		0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		40	426	1	0	3.66105e-37	1	4.39389e-37	40	426					A	54742952	C	A	54742952	3	1	79	1	0	0	0	0	1	0	0	0	8821	680	24	3	126	3	LILRA6	19	54742952	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73780	54742952	4386031	19701	30018											
LILRA6	79168	broad.mit.edu	37	chr19	54745706	54745706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatattcccccctgagGccaccacagggctgggcagg	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54745706G>A	ENST00000396365.2	-	4	443	c.404C>T	c.(403-405)gCc>gTc	p.A135V	LILRA6_ENST00000440558.2_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	135					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)		CCCCCCTGAGGCCACCACAGG	0.562																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(403-405)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							42	71	61					19																	54745706		2126	4294	6420	SO:0001583	missense	79168							g.chr19:54745706G>A	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.404C>T	19.37:g.54745706G>A	ENSP00000379651:p.Ala135Val					LILRA6_ENST00000419410.2_Missense_Mutation_p.A135V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A135V|LILRA6_ENST00000391735.3_Missense_Mutation_p.A135V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.A135V|LILRA6_ENST00000396365.2_Missense_Mutation_p.A135V	p.A135V						GBM - Glioblastoma multiforme(193;0.105)	4	452	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.404C>T	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951506	0.34471	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;4.09;2.68;2.68	3.4	2.34	0.29019	Immunoglobulin-like fold (1);	1.765360	0.02642	N	0.105493	T	0.35335	0.0928	M	0.72353	2.195	0.09310	N	1	B;B;P;P;P;P	0.51791	0.413;0.354;0.803;0.617;0.796;0.948	B;B;P;B;P;D	0.63192	0.352;0.26;0.472;0.255;0.471;0.912	T	0.02877	-1.1099	10	0.59425	D	0.04	.	6.8117	0.23809	0.1364:0.0:0.8636:0.0	.	135;135;135;135;135;135	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	V	135	ENSP00000390120:A135V;ENSP00000270464:A135V;ENSP00000411227:A135V;ENSP00000375615:A135V;ENSP00000379651:A135V;ENSP00000245621:A135V	ENSP00000245621:A135V	A	-	2	0	LILRA6	59437518	0.024000	0.19004	0.052000	0.19188	0.049000	0.14656	2.509000	0.45459	0.789000	0.33779	0.184000	0.17185	GCC		0.562	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		85	935	0	0	0	1	0	85	935					A	54745706	G	A	54745706	3	1	79	1	0	0	0	0	1	0	0	0	8821	1203	42	2	1061	2	LILRA6	19	54745706	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2754	54745706	4383277	19702	30019											
LILRB5	10990	broad.mit.edu	37	chr19	54759962	54759962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accacacctgagggtttttcCtgtaatagtaatagcatctg	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54759962C>A	ENST00000316219.5	-	4	706	c.599G>T	c.(598-600)aGg>aTg	p.R200M	LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000450632.1_Missense_Mutation_p.R191M|LILRB5_ENST00000345866.6_Intron	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	200	Ig-like C2-type 2.				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)		AGGGTTTTTCCTGTAATAGTA	0.532																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(571-573)aGg>aTg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							56	64	61					19																	54759962		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54759962C>A	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.599G>T	19.37:g.54759962C>A	ENSP00000320390:p.Arg200Met					LILRB5_ENST00000316219.5_Missense_Mutation_p.R200M|LILRB5_ENST00000449561.2_Missense_Mutation_p.R200M|LILRB5_ENST00000345866.6_Intron	p.R191M			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	649	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		200			Ig-like C2-type 2.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.572G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371914	0.42003	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561	T;T;T	0.00768	5.72;5.72;5.72	3.25	0.989	0.19802	Immunoglobulin-like fold (1);	1.747240	0.03172	N	0.170856	T	0.04227	0.0117	M	0.84948	2.725	0.09310	N	1	D;D;D	0.76494	0.981;0.999;0.999	P;D;D	0.66847	0.783;0.932;0.947	T	0.27054	-1.0085	10	0.44086	T	0.13	.	4.4133	0.11443	0.0:0.6292:0.2346:0.1362	.	191;200;200	C9JMK7;O75023-3;O75023	.;.;LIRB5_HUMAN	M	200;191;200	ENSP00000320390:R200M;ENSP00000414225:R191M;ENSP00000406478:R200M	ENSP00000320390:R200M	R	-	2	0	LILRB5	59451774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.499000	0.06413	0.190000	0.20209	0.446000	0.29264	AGG		0.532	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			67	309	1	0	1.7104e-27	1	1.9812e-27	67	309					A	54759962	C	A	54759962	3	1	79	1	0	0	0	0	1	0	0	0	8826	681	24	3	1216	3	LILRB5	19	54759962	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14256	54759962	4369021	19703	30020											
LILRB2	10288	broad.mit.edu	37	chr19	54778643	54778643	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtcaagctgtgcagcTgggcgtaggtcacatcctgg	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54778643T>C	ENST00000391749.4	-	14	1962	c.1691A>G	c.(1690-1692)cAg>cGg	p.Q564R	LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.Q563R|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	564					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGTGCAGCTGGGCGTAGGT	0.652																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1687-1689)cAg>cGg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							104	96	99					19																	54778643		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778643T>C	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1691A>G	19.37:g.54778643T>C	ENSP00000375629:p.Gln564Arg					LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q563R|LILRB2_ENST00000391749.4_Missense_Mutation_p.Q564R|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q448R	p.Q563R	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1815	-	Ovarian(34;0.19)		564					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.1688A>G	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598581	0.46318	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00625	6.27;6.27;6.25;6.14	1.31	1.31	0.21738	.	.	.	.	.	T	0.02970	0.0088	M	0.87900	2.915	0.18873	N	0.999982	D;D	0.69078	0.997;0.994	D;D	0.75020	0.985;0.979	T	0.33828	-0.9853	9	0.66056	D	0.02	.	4.8943	0.13742	0.0:0.0:0.0:1.0	.	580;564	E7EVY1;Q8N423	.;LIRB2_HUMAN	R	563;563;564;448	ENSP00000375628:Q563R;ENSP00000319960:Q563R;ENSP00000375629:Q564R;ENSP00000410117:Q448R	ENSP00000319960:Q563R	Q	-	2	0	LILRB2	59470455	0.934000	0.31675	0.664000	0.29753	0.267000	0.26476	0.579000	0.23788	0.885000	0.36088	0.246000	0.17985	CAG		0.652	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			108	400	0	0	0	1	0	108	400					C	54778643	T	C	54778643	3	2	79	1	0	0	0	0	1	0	0	0	8823	1580	55	4	109	4	LILRB2	19	54778643	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	18681	54778643	4350340	19704	30021											
LILRB2	10288	broad.mit.edu	37	chr19	54782896	54782896	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcagagacacactggagGgtcaggctttccccaggggc	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54782896G>A	ENST00000391749.4	-	6	997	c.726C>T	c.(724-726)acC>acT	p.T242T	LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000391748.1_Silent_p.T242T|LILRB2_ENST00000434421.1_Silent_p.T126T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	242	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACACTGGAGGGTCAGGCTTT	0.602																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(724-726)acC>acT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							96	98	98					19																	54782896		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782896G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.726C>T	19.37:g.54782896G>A						LILRB2_ENST00000391746.1_Silent_p.T242T|LILRB2_ENST00000314446.5_Silent_p.T242T|LILRB2_ENST00000391749.4_Silent_p.T242T|LILRB2_ENST00000434421.1_Silent_p.T126T	p.T242T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	853	-	Ovarian(34;0.19)		242			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.726C>T	CCDS12886.1																																																																																				0.602	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			17	539	0	0	0	1	0	17	539					A	54782896	G	A	54782896	2	1	79	1	0	0	0	0	0	0	0	1	8823	1219	43	2		2	LILRB2	19	54782896	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4253	54782896	4346087	19705	30022											
LILRA5	353514	broad.mit.edu	37	chr19	54822915	54822915	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctcagccgtgagccacactGgagggtcacgttctctcctg	11	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54822915G>T	ENST00000301219.3	-	5	600	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	161	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCACACTGGAGGGTCACG	0.562																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(481-483)Cag>Aag		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							77	76	76					19																	54822915		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822915G>T	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.481C>A	19.37:g.54822915G>T	ENSP00000301219:p.Gln161Lys					LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161K|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149K|LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149K|AC008984.2_ENST00000507363.1_RNA	p.Q161K	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	600	-	Ovarian(34;0.19)		161			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.481C>A	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	6.794	0.515449	0.12944	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03181	4.02;4.02;4.02;4.02	3.14	2.04	0.26737	Immunoglobulin-like fold (1);	0.690178	0.11907	U	0.518010	T	0.05823	0.0152	M	0.68952	2.095	0.09310	N	1	B;B;B;B	0.29115	0.106;0.233;0.094;0.11	B;B;B;B	0.29077	0.071;0.056;0.03;0.098	T	0.27839	-1.0062	10	0.51188	T	0.08	.	7.5281	0.27666	0.0:0.0:0.7427:0.2573	.	149;161;149;161	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	K	161;149;149;161	ENSP00000301219:Q161K;ENSP00000302948:Q149K;ENSP00000389499:Q149K;ENSP00000404236:Q161K	ENSP00000301219:Q161K	Q	-	1	0	LILRA5	59514727	0.538000	0.26394	0.176000	0.23000	0.021000	0.10359	1.675000	0.37555	0.407000	0.25591	0.205000	0.17691	CAG		0.562	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		90	387	1	0	4.21487e-37	1	5.05809e-37	90	387					T	54822915	G	T	54822915	3	4	79	1	0	0	0	0	1	0	0	0	8820	1357	47	3	516	3	LILRA5	19	54822915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40019	54822915	4306068	19706	30023											
LILRA4	23547	broad.mit.edu	37	chr19	54849305	54849305	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtacccctgttgctgaagGtcagggggcccatggggaac	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54849305G>A	ENST00000291759.4	-	4	613	c.557C>T	c.(556-558)aCc>aTc	p.T186I	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	186	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTGCTGAAGGTCAGGGGGCC	0.557																																						ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(556-558)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							89	76	80					19																	54849305		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849305G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.557C>T	19.37:g.54849305G>A	ENSP00000291759:p.Thr186Ile						p.T186I	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	613	-	Ovarian(34;0.19)		186			Ig-like C2-type 2.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.557C>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	9.285	1.049228	0.19827	.	.	ENSG00000239961	ENST00000291759	T	0.03831	3.79	2.76	-5.52	0.02560	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.845757	0.10283	N	0.693289	T	0.06690	0.0171	M	0.83012	2.62	0.09310	N	1	B	0.29571	0.249	B	0.30572	0.117	T	0.21245	-1.0251	10	0.62326	D	0.03	.	2.6998	0.05145	0.2127:0.4668:0.186:0.1345	.	186	P59901	LIRA4_HUMAN	I	186	ENSP00000291759:T186I	ENSP00000291759:T186I	T	-	2	0	LILRA4	59541117	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.254000	0.02874	-1.571000	0.01663	-0.244000	0.11960	ACC		0.557	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		33	196	0	0	0	1	0	33	196					A	54849305	G	A	54849305	3	1	79	1	0	0	0	0	1	0	0	0	8819	1261	44	2	962	2	LILRA4	19	54849305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26390	54849305	4279678	19707	30024											
TTYH1	57348	broad.mit.edu	37	chr19	54932493	54932493	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatggcaacagtgagaccagTgatggggtgtcccagctcag	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54932493T>C	ENST00000376530.3	+	3	451	c.348T>C	c.(346-348)agT>agC	p.S116S	TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000301194.4_Silent_p.S116S	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	116					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)		GTGAGACCAGTGATGGGGTGT	0.637																																						ENST00000301194.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(346-348)agT>agC		tweety family member 1							123	101	108					19																	54932493		2203	4300	6503	SO:0001819	synonymous_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54932493T>C	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.348T>C	19.37:g.54932493T>C						TTYH1_ENST00000391739.3_Silent_p.S165S|TTYH1_ENST00000376531.3_Silent_p.S116S|TTYH1_ENST00000376530.3_Silent_p.S116S	p.S116S			Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	3	470	+	Ovarian(34;0.19)		116					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	c.348T>C	CCDS12893.1																																																																																				0.637	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			61	306	0	0	0	1	0	61	306					C	54932493	T	C	54932493	2	2	79	1	0	0	0	0	0	0	0	1	16793	1693	59	4		4	TTYH1	19	54932493	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	83188	54932493	4196490	19708	30025											
LENG8	114823	broad.mit.edu	37	chr19	54965677	54965677	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctgccgtcggctcaGccccctcagccctcaaatcc	8	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54965677G>T	ENST00000326764.5	+	6	974	c.495G>T	c.(493-495)caG>caT	p.Q165H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	128										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)		CGTCGGCTCAGCCCCCTCAGC	0.682																																						ENST00000326764.5																			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						c.(493-495)caG>caT		leukocyte receptor cluster (LRC) member 8							28	30	29					19																	54965677		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54965677G>T	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.495G>T	19.37:g.54965677G>T	ENSP00000318374:p.Gln165His					LENG8_ENST00000376514.2_Intron	p.Q165H	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	6	974	+	Ovarian(34;0.19)		128					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.495G>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118360	0.56505	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.48201	1.39;0.82;1.42;1.35	5.23	3.05	0.35203	.	0.363370	0.28671	N	0.014526	T	0.43500	0.1250	L	0.51422	1.61	0.80722	D	1	P;P	0.48503	0.911;0.627	P;B	0.47981	0.563;0.098	T	0.24225	-1.0166	10	0.14656	T	0.56	-30.3481	9.66	0.39950	0.1731:0.0:0.8269:0.0	.	165;128	Q96PV6-2;F8W9Q9	.;.	H	165;128;165;128;165	ENSP00000318374:Q165H;ENSP00000399507:Q165H;ENSP00000365709:Q128H;ENSP00000388053:Q165H	ENSP00000301196:Q128H	Q	+	3	2	LENG8	59657489	0.995000	0.38212	1.000000	0.80357	0.692000	0.40212	0.414000	0.21164	1.314000	0.45095	0.655000	0.94253	CAG		0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		42	203	1	0	5.78141e-17	1	6.36782e-17	42	203					T	54965677	G	T	54965677	3	4	79	1	0	0	0	0	1	0	0	0	8755	962	34	3	513	3	LENG8	19	54965677	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33184	54965677	4163306	19709	30026											
LENG8	114823	broad.mit.edu	37	chr19	54966209	54966209	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccagagctttggctccaaCgcagagggccagcacagtgg	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966209C>T	ENST00000326764.5	+	7	1238	c.759C>T	c.(757-759)aaC>aaT	p.N253N	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	216										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)		TTGGCTCCAACGCAGAGGGCC	0.607																																						ENST00000326764.5																			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						c.(757-759)aaC>aaT		leukocyte receptor cluster (LRC) member 8							69	67	67					19																	54966209		2203	4300	6503	SO:0001819	synonymous_variant	114823						protein binding	g.chr19:54966209C>T	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.759C>T	19.37:g.54966209C>T						LENG8_ENST00000376514.2_Intron	p.N253N	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	7	1238	+	Ovarian(34;0.19)		216					B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	ENST00000326764.5	37	c.759C>T	CCDS12894.1																																																																																				0.607	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		51	231	0	0	0	1	0	51	231					T	54966209	C	T	54966209	2	4	79	1	0	0	0	0	0	0	0	1	8755	535	19	1		1	LENG8	19	54966209	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	532	54966209	4162774	19710	30027											
LENG8	114823	broad.mit.edu	37	chr19	54966594	54966594	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagcccgatgactggccccaGgacatgaaagagtatgtgga	13	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966594G>T	ENST00000326764.5	+	8	1352	c.873G>T	c.(871-873)caG>caT	p.Q291H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	254										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)		ACTGGCCCCAGGACATGAAAG	0.632																																						ENST00000326764.5																			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						c.(871-873)caG>caT		leukocyte receptor cluster (LRC) member 8							53	60	58					19																	54966594		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54966594G>T	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.873G>T	19.37:g.54966594G>T	ENSP00000318374:p.Gln291His					LENG8_ENST00000376514.2_Intron	p.Q291H	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	8	1352	+	Ovarian(34;0.19)		254					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.873G>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001255	0.74818	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000439657;ENST00000376526;ENST00000431846	T;T;T;T	0.57273	1.42;0.41;1.41;1.39	5.38	3.23	0.37069	.	0.059035	0.64402	D	0.000002	T	0.63815	0.2543	M	0.63843	1.955	0.80722	D	1	P;D	0.71674	0.925;0.998	P;D	0.69479	0.735;0.964	T	0.64711	-0.6343	10	0.59425	D	0.04	-23.4433	7.9572	0.30049	0.2569:0.0:0.7431:0.0	.	291;254	Q96PV6-2;F8W9Q9	.;.	H	291;254;291;254;291	ENSP00000318374:Q291H;ENSP00000399507:Q291H;ENSP00000365709:Q254H;ENSP00000388053:Q291H	ENSP00000301196:Q254H	Q	+	3	2	LENG8	59658406	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.724000	0.47285	1.419000	0.47118	-0.136000	0.14681	CAG		0.632	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		81	275	1	0	1.15773e-35	1	1.38295e-35	81	275					T	54966594	G	T	54966594	3	4	79	1	0	0	0	0	1	0	0	0	8755	991	35	3	899	3	LENG8	19	54966594	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	385	54966594	4162389	19711	30028											
LENG8	114823	broad.mit.edu	37	chr19	54969152	54969152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agttcacggtggaggtgtacGagacccatgcccggatcgcc	14	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54969152G>A	ENST00000326764.5	+	13	2352	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	588										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)		GGAGGTGTACGAGACCCATGC	0.667																																						ENST00000326764.5																			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						c.(1873-1875)Gag>Aag		leukocyte receptor cluster (LRC) member 8							65	71	69					19																	54969152		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969152G>A	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.1873G>A	19.37:g.54969152G>A	ENSP00000318374:p.Glu625Lys					LENG8_ENST00000376514.2_Intron	p.E625K	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	13	2352	+	Ovarian(34;0.19)		588					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1873G>A	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	35	5.524366	0.96431	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.39229	1.09;1.09;1.09	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.89840	3.065	0.80722	D	1	P;P	0.52170	0.951;0.918	P;B	0.48552	0.581;0.432	T	0.71981	-0.4428	10	0.87932	D	0	-27.9672	16.5215	0.84318	0.0:0.0:1.0:0.0	.	625;588	Q96PV6-2;F8W9Q9	.;.	K	625;588;588;625	ENSP00000318374:E625K;ENSP00000365709:E588K;ENSP00000388053:E625K	ENSP00000301196:E588K	E	+	1	0	LENG8	59660964	1.000000	0.71417	0.988000	0.46212	0.829000	0.46940	8.587000	0.90810	2.582000	0.87167	0.561000	0.74099	GAG		0.667	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		67	280	0	0	0	1	0	67	280					A	54969152	G	A	54969152	3	1	79	1	0	0	0	0	1	0	0	0	8755	1059	37	1	1919	1	LENG8	19	54969152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2558	54969152	4159831	19712	30029											
LAIR2	3904	broad.mit.edu	37	chr19	55019358	55019358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctctattataagccccctgGatggtctgagcacagtgact	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55019358G>A	ENST00000301202.2	+	3	445	c.323G>A	c.(322-324)gGa>gAa	p.G108E	LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	108	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		AAGCCCCCTGGATGGTCTGAG	0.547																																						ENST00000301202.2																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18						c.(322-324)gGa>gAa		leukocyte-associated immunoglobulin-like receptor 2							102	101	101					19																	55019358		2203	4300	6503	SO:0001583	missense	3904					extracellular region	receptor activity	g.chr19:55019358G>A	AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.323G>A	19.37:g.55019358G>A	ENSP00000301202:p.Gly108Glu					LAIR2_ENST00000351841.2_Missense_Mutation_p.G108E	p.G108E	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN		GBM - Glioblastoma multiforme(193;0.0967)	3	445	+	Ovarian(34;0.19)		108			Ig-like C2-type.		Q6PEZ4	Missense_Mutation	SNP	ENST00000301202.2	37	c.323G>A	CCDS12897.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.458951	0.01062	.	.	ENSG00000167618	ENST00000301202;ENST00000351841	T;T	0.15139	2.45;2.61	3.77	-7.55	0.01327	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.257690	0.00166	N	0.000009	T	0.08088	0.0202	N	0.13272	0.32	0.09310	N	1	B;B	0.27068	0.167;0.125	B;B	0.31390	0.085;0.129	T	0.18935	-1.0321	9	.	.	.	.	1.3272	0.02128	0.1782:0.2237:0.1497:0.4485	.	108;108	Q6ISS4-2;Q6ISS4	.;LAIR2_HUMAN	E	108	ENSP00000301202:G108E;ENSP00000301203:G108E	.	G	+	2	0	LAIR2	59711170	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-5.739000	0.00101	-1.884000	0.01119	0.313000	0.20887	GGA		0.547	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140801.1			109	483	0	0	0	1	0	109	483					A	55019358	G	A	55019358	3	1	79	1	0	0	0	0	1	0	0	0	8634	1174	41	2	333	2	LAIR2	19	55019358	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50206	55019358	4109625	19713	30030											
LILRA2	11027	broad.mit.edu	37	chr19	55086036	55086036	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtacagtgaccccctggaGctggtggtgacaggtgagag	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086036G>A	ENST00000251377.3	+	4	472	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E113E|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Silent_p.E101E			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	113	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		ACCCCCTGGAGCTGGTGGTGA	0.607																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(337-339)gaG>gaA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							70	63	65					19																	55086036		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:55086036G>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.339G>A	19.37:g.55086036G>A						LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.E101E|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.E113E|LILRA2_ENST00000391738.3_Silent_p.E113E	p.E113E						GBM - Glioblastoma multiforme(193;0.0963)	4	472	+								O75020	Silent	SNP	ENST00000251377.3	37	c.339G>A	CCDS46179.1																																																																																				0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			70	271	0	0	0	1	0	70	271					A	55086036	G	A	55086036	2	1	79	1	0	0	0	0	0	0	0	1	8817	962	34	2		2	LILRA2	19	55086036	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66678	55086036	4042947	19714	30031											
LILRA2	11027	broad.mit.edu	37	chr19	55086372	55086372	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcccatgcccgtgggtggtCctgggccatcttctccgtgg	13	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086372C>A	ENST00000251377.3	+	5	660	c.527C>A	c.(526-528)tCc>tAc	p.S176Y	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	176	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CGTGGGTGGTCCTGGGCCATC	0.567																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(526-528)tCc>tAc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							165	153	157					19																	55086372		2203	4300	6503	SO:0001583	missense	0							g.chr19:55086372C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.527C>A	19.37:g.55086372C>A	ENSP00000251377:p.Ser176Tyr					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S164Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S176Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.S176Y	p.S176Y						GBM - Glioblastoma multiforme(193;0.0963)	5	660	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.527C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	0.478	-0.881285	0.02530	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	2.4	-4.8	0.03190	Immunoglobulin-like fold (1);	2.625940	0.01171	N	0.006877	T	0.06645	0.0170	L	0.42581	1.335	0.09310	N	1	B;B;B;D	0.60575	0.015;0.136;0.247;0.988	B;B;B;P	0.56163	0.006;0.097;0.15;0.793	T	0.51725	-0.8669	10	0.02654	T	1	.	8.9482	0.35771	0.0:0.2403:0.0:0.7597	.	176;164;176;176	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	176;176;176;176;164	ENSP00000388131:S176Y;ENSP00000251377:S176Y;ENSP00000375618:S176Y;ENSP00000251376:S176Y;ENSP00000375617:S164Y	ENSP00000251376:S176Y	S	+	2	0	LILRA2	59778184	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.287000	0.00526	-1.244000	0.02516	-0.358000	0.07595	TCC		0.567	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			80	695	1	0	1.8615e-32	1	2.19839e-32	80	695					A	55086372	C	A	55086372	3	1	79	1	0	0	0	0	1	0	0	0	8817	855	30	3	541	3	LILRA2	19	55086372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	336	55086372	4042611	19715	30032											
LILRA2	11027	broad.mit.edu	37	chr19	55086784	55086784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atggtggcccccggggagagCctgaccctccagtgtgtctc	14	14	1	2	rs561216122	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086784C>A	ENST00000251377.3	+	6	850	c.717C>A	c.(715-717)agC>agA	p.S239R	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	239	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCGGGGAGAGCCTGACCCTCC	0.577																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(715-717)agC>agA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							108	110	109					19																	55086784		2203	4300	6503	SO:0001583	missense	0							g.chr19:55086784C>A	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.717C>A	19.37:g.55086784C>A	ENSP00000251377:p.Ser239Arg					LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S227R|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S239R|LILRA2_ENST00000391738.3_Missense_Mutation_p.S239R	p.S239R						GBM - Glioblastoma multiforme(193;0.0963)	6	850	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.717C>A	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	5.286	0.238185	0.10023	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00873	5.59;5.59;5.59;5.59;5.59	2.11	-1.96	0.07525	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.810500	0.03188	N	0.172960	T	0.01254	0.0041	L	0.48877	1.53	0.09310	N	1	B;B;B;B	0.22541	0.071;0.003;0.006;0.001	B;B;B;B	0.25759	0.063;0.014;0.014;0.005	T	0.47749	-0.9093	10	0.49607	T	0.09	.	3.4604	0.07531	0.0:0.5:0.2107:0.2894	.	239;227;239;239	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	R	239;239;239;239;227	ENSP00000388131:S239R;ENSP00000251377:S239R;ENSP00000375618:S239R;ENSP00000251376:S239R;ENSP00000375617:S227R	ENSP00000251376:S239R	S	+	3	2	LILRA2	59778596	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.865000	0.04250	-0.361000	0.08125	-1.294000	0.01345	AGC		0.577	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			105	451	1	0	1.58909e-51	1	1.97261e-51	105	451					A	55086784	C	A	55086784	3	1	79	1	0	0	0	0	1	0	0	0	8817	738	26	3	735	3	LILRA2	19	55086784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	412	55086784	4042199	19716	30033											
KIR2DL3	3804	broad.mit.edu	37	chr19	55263116	55263116	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtaaccccagacaccTgcatgttctgattgggacct	9	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55263116T>C	ENST00000342376.3	+	6	762	c.731T>C	c.(730-732)cTg>cCg	p.L244P	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	244					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)		CCCAGACACCTGCATGTTCTG	0.438																																						ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(730-732)cTg>cCg		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							168	146	154					19																	55263116		1419	2575	3994	SO:0001583	missense	3804							g.chr19:55263116T>C	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.731T>C	19.37:g.55263116T>C	ENSP00000342215:p.Leu244Pro					KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	p.L244P	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	6	762	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.731T>C	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	T	5.182	0.219131	0.09863	.	.	ENSG00000243772	ENST00000342376	T	0.00542	6.69	0.635	0.635	0.17723	.	.	.	.	.	T	0.02888	0.0086	H	0.94698	3.57	0.09310	N	1	P;D;D;D	0.89917	0.568;0.991;1.0;1.0	B;D;D;D	0.91635	0.355;0.991;0.999;0.999	T	0.14952	-1.0454	8	0.87932	D	0	.	.	.	.	.	244;146;244;244	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	P	244	ENSP00000342215:L244P	ENSP00000342215:L244P	L	+	2	0	KIR2DL3	59954928	0.001000	0.12720	0.004000	0.12327	0.012000	0.07955	0.104000	0.15313	0.516000	0.28340	0.248000	0.18094	CTG		0.438	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			35	879	0	0	0	1	0	35	879					C	55263116	T	C	55263116	3	2	79	1	0	0	0	0	1	0	0	0	8347	1580	55	4	753	4	KIR2DL3	19	55263116	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176332	55263116	3865867	19717	30034											
KIR2DL1	3811	broad.mit.edu	37	chr19	55282321	55282321	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttcttcttgctgcaggggGcctggccacatgagggtgag	17	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55282321G>A	ENST00000538269.1	+	1	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.A19T|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19T			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)	p.A19S(1)		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)		GCTGCAGGGGGCCTGGCCACA	0.562																																						ENST00000336077.6																			1	Substitution - Missense(1)	p.A19S(1)	lung(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(55-57)Gcc>Acc		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1							68	56	60					19																	55282321		1508	2879	4387	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55282321G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+46286G>A	19.37:g.55282321G>A						KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A19T|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	p.A19T	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	95	+			19					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.55G>A		.	.	.	.	.	.	.	.	.	.	G	6.969	0.548676	0.13312	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.00466	7.24;7.23	0.704	-0.819	0.10829	.	.	.	.	.	T	0.00328	0.0010	L	0.37897	1.145	0.09310	N	1	B;B	0.25007	0.116;0.021	B;B	0.25987	0.065;0.015	T	0.40701	-0.9549	9	0.72032	D	0.01	.	4.11	0.10055	0.7308:0.0:0.2692:0.0	.	19;19	Q6IST4;Q6H2H3	.;.	T	19	ENSP00000336769:A19T;ENSP00000291633:A19T	ENSP00000291633:A19T	A	+	1	0	KIR2DL1	59974133	0.006000	0.16342	0.002000	0.10522	0.001000	0.01503	0.873000	0.28052	-0.279000	0.09167	-0.507000	0.04495	GCC		0.562	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		227	390	0	0	0	1	0	227	390					A	55282321	G	A	55282321	1	1	79	0	1	0	0	0	0	0	0	0	8346	1203	42	2		2	KIR2DL1	19	55282321	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19205	55282321	3846662	19718	30035											
FCAR	2204	broad.mit.edu	37	chr19	55401222	55401222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgaacaccaagtgtctGcaagtaaacacctggaggtg	11	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55401222G>A	ENST00000355524.3	+	5	867	c.857G>A	c.(856-858)tGc>tAc	p.C286Y	FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	286					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAAGTGTCTGCAAGTAAACA	0.522																																						ENST00000355524.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24						c.(856-858)tGc>tAc		Fc fragment of IgA, receptor for							78	81	80					19																	55401222		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401222G>A	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.857G>A	19.37:g.55401222G>A	ENSP00000347714:p.Cys286Tyr					FCAR_ENST00000391724.3_Missense_Mutation_p.C252Y|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.C190Y|FCAR_ENST00000359272.4_Missense_Mutation_p.C274Y|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.C177Y|FCAR_ENST00000391725.3_Missense_Mutation_p.C264Y|FCAR_ENST00000391726.3_Missense_Mutation_p.C178Y	p.C286Y	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	867	+			286					Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.857G>A	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532216	0.27387	.	.	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.03831	3.79;6.83;6.46;4.79;6.52;6.65;6.32	2.46	-4.92	0.03075	.	.	.	.	.	T	0.07999	0.0200	L	0.29908	0.895	0.09310	N	1	D;D;P;D;D;P;D	0.65815	0.995;0.98;0.654;0.99;0.98;0.483;0.976	D;D;B;P;D;B;D	0.72982	0.979;0.962;0.254;0.781;0.962;0.118;0.923	T	0.12811	-1.0533	9	0.87932	D	0	.	3.4708	0.07566	0.1373:0.1611:0.5515:0.1502	.	177;252;178;274;264;190;286	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	Y	178;286;264;190;177;274;252	ENSP00000375606:C178Y;ENSP00000347714:C286Y;ENSP00000375605:C264Y;ENSP00000338257:C190Y;ENSP00000338058:C177Y;ENSP00000352218:C274Y;ENSP00000375604:C252Y	ENSP00000338257:C190Y	C	+	2	0	FCAR	60093034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.608000	0.02068	-1.199000	0.02666	-0.262000	0.10625	TGC		0.522	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		113	477	0	0	0	1	0	113	477					A	55401222	G	A	55401222	3	1	79	1	0	0	0	0	1	0	0	0	5798	1319	46	2	946	2	FCAR	19	55401222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118901	55401222	3727761	19719	30036											
NCR1	9437	broad.mit.edu	37	chr19	55423572	55423572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccttttaaccacagagaCgggactccagaaaggtaagt	9	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55423572C>T	ENST00000291890.4	+	6	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_ENST00000338835.5_Intron|NCR1_ENST00000594765.1_Missense_Mutation_p.T239M|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	240					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)		ACCACAGAGACGGGACTCCAG	0.512																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(715-717)aCg>aTg		natural cytotoxicity triggering receptor 1							129	121	124					19																	55423572		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55423572C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.719C>T	19.37:g.55423572C>T	ENSP00000291890:p.Thr240Met					NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000357397.5_Missense_Mutation_p.T133M	p.T239M			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	6	741	+			240					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.716C>T	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	6.539	0.467713	0.12402	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00561	6.86;6.89;6.85;6.59	2.54	-0.969	0.10310	.	619.523000	0.00166	N	0.000000	T	0.00468	0.0015	L	0.51914	1.62	0.09310	N	1	P;P;P;P	0.39480	0.675;0.546;0.675;0.546	B;B;B;B	0.21360	0.034;0.026;0.034;0.015	T	0.48007	-0.9072	10	0.59425	D	0.04	.	2.4668	0.04554	0.2339:0.4865:0.0:0.2796	.	133;145;239;240	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	M	240;239;145;133	ENSP00000291890:T240M;ENSP00000404434:T239M;ENSP00000344358:T145M;ENSP00000349972:T133M	ENSP00000291890:T240M	T	+	2	0	NCR1	60115384	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-0.221000	0.09202	-0.097000	0.12307	-0.124000	0.14976	ACG		0.512	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			88	422	0	0	0	1	0	88	422					T	55423572	C	T	55423572	3	4	79	1	0	0	0	0	1	0	0	0	10279	536	19	1	741	1	NCR1	19	55423572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22350	55423572	3705411	19720	30037											
NLRP7	199713	broad.mit.edu	37	chr19	55451160	55451160	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagctcaaaggcacgcatggCttggtcctcgtctccaaagt	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451160C>A	ENST00000590030.1	-	3	1067	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S|NLRP7_ENST00000446217.1_Missense_Mutation_p.A371S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S|NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	343	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCACGCATGGCTTGGTCCTCG	0.617																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1111-1113)Gcc>Tcc		NLR family, pyrin domain containing 7							32	34	33					19																	55451160		2202	4293	6495	SO:0001583	missense	199713						ATP binding	g.chr19:55451160C>A	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.1027G>T	19.37:g.55451160C>A	ENSP00000465520:p.Ala343Ser					NLRP7_ENST00000328092.5_Missense_Mutation_p.A343S|NLRP7_ENST00000592784.1_Missense_Mutation_p.A343S|NLRP7_ENST00000590030.1_Missense_Mutation_p.A343S|NLRP7_ENST00000588756.1_Missense_Mutation_p.A343S|NLRP7_ENST00000448121.2_Missense_Mutation_p.A343S|NLRP7_ENST00000340844.2_Missense_Mutation_p.A343S	p.A371S			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1513	-			343			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1111G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649372	0.47362	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	2.19	-0.0395	0.13875	NACHT nucleoside triphosphatase (1);	0.000000	0.31976	N	0.006779	D	0.84584	0.5504	M	0.72353	2.195	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.73132	-0.4079	10	0.52906	T	0.07	.	4.9523	0.14021	0.0:0.6391:0.2201:0.1409	.	371;343;343;343	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	S	343;343;343;371;110	ENSP00000329568:A343S;ENSP00000409137:A343S;ENSP00000339491:A343S;ENSP00000414273:A371S	ENSP00000329568:A343S	A	-	1	0	NLRP7	60142972	0.988000	0.35896	0.000000	0.03702	0.006000	0.05464	3.733000	0.55029	0.056000	0.16144	0.462000	0.41574	GCC		0.617	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		57	232	1	0	1.08241e-25	1	1.24348e-25	57	232					A	55451160	C	A	55451160	3	1	79	1	0	0	0	0	1	0	0	0	10524	797	28	3	2118	3	NLRP7	19	55451160	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27588	55451160	3677823	19721	30038											
NLRP7	199713	broad.mit.edu	37	chr19	55451411	55451411	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgccccaggtgggactTtcagctcatcaaggccatcg	11	14	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	ENST00000590030.1	-	3	816	c.776A>G	c.(775-777)aAa>aGa	p.K259R	NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000446217.1_Missense_Mutation_p.K287R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	259	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTGGGACTTTCAGCTCATC	0.552																																						ENST00000446217.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(859-861)aAa>aGa		NLR family, pyrin domain containing 7							87	89	88					19																	55451411		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55451411T>C	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.776A>G	19.37:g.55451411T>C	ENSP00000465520:p.Lys259Arg					NLRP7_ENST00000328092.5_Missense_Mutation_p.K259R|NLRP7_ENST00000592784.1_Missense_Mutation_p.K259R|NLRP7_ENST00000590030.1_Missense_Mutation_p.K259R|NLRP7_ENST00000588756.1_Missense_Mutation_p.K259R|NLRP7_ENST00000448121.2_Missense_Mutation_p.K259R|NLRP7_ENST00000340844.2_Missense_Mutation_p.K259R	p.K287R			Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	1262	-			259			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.860A>G	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.611732	0.00835	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	1.76	-2.71	0.05986	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.44095	0.1277	N	0.01250	-0.93	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.14023	0.007;0.01;0.01;0.004	T	0.35992	-0.9766	9	0.15066	T	0.55	.	7.2761	0.26286	0.0:0.3325:0.0:0.6675	.	287;259;259;259	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	R	259;259;259;287	ENSP00000329568:K259R;ENSP00000409137:K259R;ENSP00000339491:K259R;ENSP00000414273:K287R	ENSP00000329568:K259R	K	-	2	0	NLRP7	60143223	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.213000	0.17521	-0.742000	0.04790	-0.609000	0.04063	AAA		0.552	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		115	512	0	0	0	1	0	115	512					C	55451411	T	C	55451411	3	2	79	1	0	0	0	0	1	0	0	0	10524	1841	64	4	2369	4	NLRP7	19	55451411	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	251	55451411	3677572	19722	30039											
NLRP2	55655	broad.mit.edu	37	chr19	55494232	55494232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagctaatgaggagcaacgCggccctgttccagctgggct	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55494232C>T	ENST00000543010.1	+	6	1309	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	389	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)		AGGAGCAACGCGGCCCTGTTC	0.632																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1165-1167)gCg>gTg		NLR family, pyrin domain containing 2							29	29	29					19																	55494232		2203	4298	6501	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494232C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1166C>T	19.37:g.55494232C>T	ENSP00000445135:p.Ala389Val					NLRP2_ENST00000448584.2_Missense_Mutation_p.A389V|NLRP2_ENST00000427260.2_Missense_Mutation_p.A366V|NLRP2_ENST00000391721.4_Missense_Mutation_p.A365V|NLRP2_ENST00000339757.7_Missense_Mutation_p.A367V|NLRP2_ENST00000537859.1_Missense_Mutation_p.A367V|NLRP2_ENST00000263437.6_Missense_Mutation_p.A386V|NLRP2_ENST00000538819.1_Missense_Mutation_p.A365V	p.A389V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1309	+			389			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1166C>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095492	0.36952	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.74209	-0.77;-0.71;-0.71;-0.77;-0.71;-0.82;-0.71;-0.77	1.64	-0.74	0.11115	NACHT nucleoside triphosphatase (1);	0.883995	0.09194	N	0.835623	T	0.76983	0.4064	L	0.58101	1.795	0.09310	N	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.998;0.999	P;D;D;P;P	0.64410	0.892;0.925;0.91;0.885;0.862	T	0.62704	-0.6798	10	0.56958	D	0.05	.	0.7271	0.00951	0.2404:0.3548:0.2375:0.1672	.	366;367;386;365;389	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	V	389;365;367;389;367;366;365;386	ENSP00000445135:A389V;ENSP00000375601:A365V;ENSP00000344074:A367V;ENSP00000409370:A389V;ENSP00000440601:A367V;ENSP00000402474:A366V;ENSP00000441133:A365V;ENSP00000263437:A386V	ENSP00000263437:A386V	A	+	2	0	NLRP2	60186044	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	0.538000	0.23160	-0.102000	0.12197	-0.265000	0.10407	GCG		0.632	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		57	228	0	0	0	1	0	57	228					T	55494232	C	T	55494232	3	4	79	1	0	0	0	0	1	0	0	0	10519	768	27	1	1184	1	NLRP2	19	55494232	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42821	55494232	3634751	19723	30040											
NLRP2	55655	broad.mit.edu	37	chr19	55501543	55501543	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttgagacaccccaagtgCtttctgcagaggttgtcgta	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55501543C>T	ENST00000543010.1	+	9	2663	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000538819.1_Silent_p.C816C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	840					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)		ACCCCAAGTGCTTTCTGCAGA	0.512																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2518-2520)tgC>tgT		NLR family, pyrin domain containing 2							106	90	95					19																	55501543		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55501543C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2520C>T	19.37:g.55501543C>T						NLRP2_ENST00000448584.2_Silent_p.C840C|NLRP2_ENST00000427260.2_Silent_p.C817C|NLRP2_ENST00000391721.4_Silent_p.C816C|NLRP2_ENST00000339757.7_Silent_p.C818C|NLRP2_ENST00000537859.1_Silent_p.C818C|NLRP2_ENST00000263437.6_Silent_p.C837C|NLRP2_ENST00000538819.1_Silent_p.C816C	p.C840C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	9	2663	+			840					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.2520C>T	CCDS12913.1																																																																																				0.512	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		81	321	0	0	0	1	0	81	321					T	55501543	C	T	55501543	2	4	79	1	0	0	0	0	0	0	0	1	10519	805	28	2		2	NLRP2	19	55501543	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7311	55501543	3627440	19724	30041											
GP6	51206	broad.mit.edu	37	chr19	55525665	55525665	+	3'UTR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttttgttttgttggtAgagatgaggtttcaccatgt	11	3	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55525665A>G	ENST00000417454.1	-	0	1671				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.Y550H|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ttttgttggtagagatgaggt	0.453																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1648-1650)Tac>Cac		glycoprotein VI (platelet)							56	53	54					19																	55525665		1917	4119	6036	SO:0001624	3_prime_UTR_variant	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55525665A>G	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.*624T>C	19.37:g.55525665A>G						GP6_ENST00000417454.1_3'UTR|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	p.Y550H	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	8	1675	-			0					Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.1648T>C	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295340	0.23564	.	.	ENSG00000088053	ENST00000310373	T	0.00564	6.57	0.235	0.235	0.15431	.	.	.	.	.	T	0.00754	0.0025	.	.	.	0.09310	N	1	P	0.47106	0.89	P	0.49332	0.607	T	0.53027	-0.8496	7	0.87932	D	0	.	.	.	.	.	550	Q9HCN6-3	.	H	550	ENSP00000308782:Y550H	ENSP00000308782:Y550H	Y	-	1	0	GP6	60217477	0.078000	0.21339	0.044000	0.18714	0.044000	0.14063	0.303000	0.19210	0.263000	0.21812	0.260000	0.18958	TAC		0.453	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			45	235	0	0	0	1	0	45	235					G	55525665	A	G	55525665	1	3	79	0	1	0	0	0	0	0	0	0	6613	420	15	4		4	GP6	19	55525665	3'UTR	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24122	55525665	3603318	19725	30042											
GP6	51206	broad.mit.edu	37	chr19	55543732	55543732	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggggcaccagggagctggGcagagcctggagggagggct	21	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55543732G>A	ENST00000417454.1	-	3	127	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.P34S|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	34	Ig-like C2-type 1.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AGGGAGCTGGGCAGAGCCTGG	0.706																																						ENST00000310373.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(100-102)Ccc>Tcc		glycoprotein VI (platelet)							18	22	21					19																	55543732		1959	4138	6097	SO:0001583	missense	51206				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity	g.chr19:55543732G>A	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.100C>T	19.37:g.55543732G>A	ENSP00000394922:p.Pro34Ser					GP6_ENST00000417454.1_Missense_Mutation_p.P34S|GP6_ENST00000333884.2_Missense_Mutation_p.P34S|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA	p.P34S	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)	3	127	-			34			Ig-like C2-type 1.		Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	37	c.100C>T	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396014	0.62177	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.12879	2.64;2.64;2.64	3.96	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35128	0.0921	M	0.78285	2.405	0.26996	N	0.965039	D;P;D	0.65815	0.987;0.709;0.995	P;P;D	0.63597	0.766;0.663;0.916	T	0.07290	-1.0780	9	0.87932	D	0	.	11.6946	0.51536	0.0:0.0:1.0:0.0	.	34;34;34	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	S	34	ENSP00000394922:P34S;ENSP00000308782:P34S;ENSP00000334552:P34S	ENSP00000308782:P34S	P	-	1	0	GP6	60235544	0.910000	0.30920	0.196000	0.23383	0.956000	0.61745	3.954000	0.56708	2.234000	0.73211	0.561000	0.74099	CCC		0.706	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1			37	151	0	0	0	1	0	37	151					A	55543732	G	A	55543732	3	1	79	1	0	0	0	0	1	0	0	0	6613	1203	42	2	1786	2	GP6	19	55543732	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18067	55543732	3585251	19726	30043											
EPS8L1	54869	broad.mit.edu	37	chr19	55589480	55589480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgccccaaagccaagCgccaagtctatctatggtga	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55589480C>T	ENST00000201647.6	+	3	98	c.42C>T	c.(40-42)agC>agT	p.S14S	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_5'Flank	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	14					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)		CAAAGCCAAGCGCCAAGTCTA	0.577																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(40-42)agC>agT		EPS8-like 1							60	55	57					19																	55589480		2203	4300	6503	SO:0001819	synonymous_variant	54869					cytoplasm		g.chr19:55589480C>T	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.42C>T	19.37:g.55589480C>T						EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	p.S14S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	98	+			14					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	ENST00000201647.6	37	c.42C>T	CCDS12914.1																																																																																				0.577	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		39	183	0	0	0	1	0	39	183					T	55589480	C	T	55589480	2	4	79	1	0	0	0	0	0	0	0	1	5213	767	27	1		1	EPS8L1	19	55589480	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45748	55589480	3539503	19727	30044											
EPS8L1	54869	broad.mit.edu	37	chr19	55591075	55591075	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctggtgacgttctgCctgggtgaggacgatggcgt	16	10	1	2	rs551816363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55591075C>A	ENST00000201647.6	+	5	191	c.135C>A	c.(133-135)tgC>tgA	p.C45*	EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_5'Flank	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	45					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)		TGACGTTCTGCCTGGGTGAGG	0.587																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(133-135)tgC>tgA		EPS8-like 1							97	76	83					19																	55591075		2203	4300	6503	SO:0001587	stop_gained	54869					cytoplasm		g.chr19:55591075C>A	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.135C>A	19.37:g.55591075C>A	ENSP00000201647:p.Cys45*					EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_De_novo_Start_InFrame|EPS8L1_ENST00000586329.1_Nonsense_Mutation_p.C27*	p.C45*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	5	191	+			45					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Nonsense_Mutation	SNP	ENST00000201647.6	37	c.135C>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749039	0.96882	.	.	ENSG00000131037	ENST00000310075;ENST00000201647	.	.	.	3.85	2.8	0.32819	.	0.439105	0.21813	N	0.068738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-22.1609	5.0513	0.14511	0.2046:0.6818:0.0:0.1136	.	.	.	.	X	27;45	.	ENSP00000201647:C45X	C	+	3	2	EPS8L1	60282887	0.159000	0.22864	0.999000	0.59377	0.838000	0.47535	0.283000	0.18846	0.732000	0.32470	0.313000	0.20887	TGC		0.587	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		33	172	1	0	1.62565e-12	1	1.74646e-12	33	172					A	55591075	C	A	55591075	4	1	79	1	0	0	0	0	0	1	0	0	5213	747	26	3	149	3	EPS8L1	19	55591075	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1595	55591075	3537908	19728	30045											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607246	55607246	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactcaccacgggactctTagggctggggtgcggcgggg	17	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55607246T>C	ENST00000263433.3	-	9	1231	c.1216A>G	c.(1216-1218)Aag>Gag	p.K406E	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACGGGACTCTTAGGGCTGGGG	0.632																																						ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(1216-1218)Aag>Gag		protein phosphatase 1, regulatory subunit 12C							58	72	68					19																	55607246		2202	4300	6502	SO:0001583	missense	54776					cytoplasm		g.chr19:55607246T>C	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1216A>G	19.37:g.55607246T>C	ENSP00000263433:p.Lys406Glu					PPP1R12C_ENST00000376393.2_Missense_Mutation_p.K406E|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.K332E	p.K406E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	9	1231	-			406						Missense_Mutation	SNP	ENST00000263433.3	37	c.1216A>G	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	8.995	0.978693	0.18812	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.67171	-0.11;-0.13;-0.25	4.08	-6.62	0.01813	.	1.460060	0.04373	N	0.359422	T	0.53077	0.1774	L	0.42245	1.32	0.09310	N	1	B;B;B	0.17038	0.02;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.0	T	0.35773	-0.9775	10	0.30078	T	0.28	.	8.0384	0.30506	0.0:0.2738:0.5401:0.186	.	332;406;406	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	E	406;406;332	ENSP00000263433:K406E;ENSP00000365573:K406E;ENSP00000387833:K332E	ENSP00000263433:K406E	K	-	1	0	PPP1R12C	60299058	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.092000	0.03366	-1.227000	0.02571	0.459000	0.35465	AAG		0.632	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		129	545	0	0	0	1	0	129	545					C	55607246	T	C	55607246	3	2	79	1	0	0	0	0	1	0	0	0	12403	1763	61	4	1188	4	PPP1R12C	19	55607246	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	16171	55607246	3521737	19729	30046											
PPP1R12C	54776	broad.mit.edu	37	chr19	55623837	55623837	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcacaccagagcccacctCggcgggcgatctccgccttc	10	19	1	1	rs143271686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55623837C>T	ENST00000263433.3	-	3	584	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GAGCCCACCTCGGCGGGCGAT	0.697													C|||	2	0.000399361	0.0	0.0	5008	,	,		13116	0.001		0.001	False		,,,				2504	0.0					ENST00000263433.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22						c.(568-570)cGa>cAa		protein phosphatase 1, regulatory subunit 12C		C	GLN/ARG	1,4401		0,1,2200	18	24	22		569	4.7	1	19	dbSNP_134	22	13,8583		0,13,4285	no	missense	PPP1R12C	NM_017607.2	43	0,14,6485	TT,TC,CC		0.1512,0.0227,0.1077	benign	190/783	55623837	14,12984	2201	4298	6499	SO:0001583	missense	54776					cytoplasm		g.chr19:55623837C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.569G>A	19.37:g.55623837C>T	ENSP00000263433:p.Arg190Gln					PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R190Q|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R116Q	p.R190Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	3	584	-			190						Missense_Mutation	SNP	ENST00000263433.3	37	c.569G>A	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102327	0.08731	2.27E-4	0.001512	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52057	0.68;0.68;0.68	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.161907	0.42821	D	0.000641	T	0.20659	0.0497	N	0.04768	-0.165	0.38669	D	0.952273	P;P;P	0.48834	0.916;0.785;0.821	B;B;B	0.41088	0.347;0.197;0.298	T	0.33085	-0.9882	10	0.02654	T	1	.	9.0177	0.36179	0.0:0.9012:0.0:0.0988	.	116;190;190	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	Q	190;190;116	ENSP00000263433:R190Q;ENSP00000365573:R190Q;ENSP00000387833:R116Q	ENSP00000263433:R190Q	R	-	2	0	PPP1R12C	60315649	1.000000	0.71417	0.997000	0.53966	0.481000	0.33189	2.806000	0.47947	2.633000	0.89246	0.561000	0.74099	CGA		0.697	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607		33	118	0	0	0	1	0	33	118					T	55623837	C	T	55623837	3	4	79	1	0	0	0	0	1	0	0	0	12403	884	31	1	1859	1	PPP1R12C	19	55623837	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16591	55623837	3505146	19730	30047											
TNNI3	7137	broad.mit.edu	37	chr19	55663256	55663256	+	Missense_Mutation	SNP	C	C	A													ccactcagtgcatcgatgttCttgcgccagtctcccacctc					rs397516358		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663256C>A	ENST00000344887.5	-	8	721	c.579G>T	c.(577-579)aaG>aaT	p.K193N	TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000592920.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	193					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATCGATGTTCTTGCGCCAGT	0.557																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(577-579)aaG>aaT		troponin I type 3 (cardiac)							125	127	126					19																	55663256		1974	4160	6134	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55663256C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.579G>T	19.37:g.55663256C>A	ENSP00000341838:p.Lys193Asn					TNNI3_ENST00000588882.1_Missense_Mutation_p.K168N	p.K193N	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	721	-			193						Missense_Mutation	SNP	ENST00000344887.5	37	c.579G>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799476	0.70567	.	.	ENSG00000129991	ENST00000344887	D	0.98028	-4.67	4.46	2.3	0.28687	.	0.000000	0.64402	D	0.000005	D	0.98343	0.9450	M	0.82823	2.61	0.52099	D	0.999948	D	0.71674	0.998	D	0.78314	0.991	D	0.98117	1.0423	10	0.87932	D	0	-28.5851	10.1277	0.42661	0.0:0.8274:0.0:0.1726	.	193	P19429	TNNI3_HUMAN	N	193	ENSP00000341838:K193N	ENSP00000341838:K193N	K	-	3	2	TNNI3	60355068	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.068000	0.50018	0.447000	0.26695	-0.424000	0.05967	AAG		0.557	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			55	198	1	0	4.33383e-22	1	4.89722e-22	55	198					A	55663256	C	A	55663256	3	1	79	1	0	0	0	0	1	0	0	0	16380	912	32	3	57	3	TNNI3	19	55663256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39419	55663256	3465727	19731	30048	195	2									
TNNI3	7137	broad.mit.edu	37	chr19	55663261	55663261	+	Missense_Mutation	SNP	G	G	A													cagtgcatcgatgttcttgcGccagtctcccacctcccggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663261G>A	ENST00000344887.5	-	8	716	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C|TNNT1_ENST00000536926.1_5'Flank|TNNT1_ENST00000356783.5_5'Flank|TNNT1_ENST00000588981.1_5'Flank|TNNT1_ENST00000587758.1_5'Flank|TNNT1_ENST00000588426.1_5'Flank|TNNI3_ENST00000590463.1_5'Flank|TNNT1_ENST00000291901.8_5'Flank|TNNT1_ENST00000592920.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	192			R -> H (in RCM1). {ECO:0000269|PubMed:12531876}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGTTCTTGCGCCAGTCTCCC	0.572																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(574-576)Cgc>Tgc		troponin I type 3 (cardiac)							117	119	119					19																	55663261		1976	4158	6134	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55663261G>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.574C>T	19.37:g.55663261G>A	ENSP00000341838:p.Arg192Cys					TNNI3_ENST00000588882.1_Missense_Mutation_p.R167C	p.R192C	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	716	-			192		R -> H (in RCM1).				Missense_Mutation	SNP	ENST00000344887.5	37	c.574C>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635841	0.67130	.	.	ENSG00000129991	ENST00000344887	D	0.98120	-4.73	4.46	3.3	0.37823	.	0.000000	0.64402	D	0.000017	D	0.98460	0.9487	M	0.84433	2.695	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.98378	1.0557	10	0.87932	D	0	-7.0285	11.1792	0.48618	0.0:0.0:0.7079:0.2921	.	192	P19429	TNNI3_HUMAN	C	192	ENSP00000341838:R192C	ENSP00000341838:R192C	R	-	1	0	TNNI3	60355073	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.153000	0.16323	2.213000	0.71641	0.491000	0.48974	CGC		0.572	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			52	192	0	0	0	1	0	52	192					A	55663261	G	A	55663261	3	1	79	1	0	0	0	0	1	0	0	0	16380	1087	38	1	62	1	TNNI3	19	55663261	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5	55663261	3465722	19732	30049	195	2									
TNNI3	7137	broad.mit.edu	37	chr19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttagcccacactcaccttCtcggtgtcctccttcttcac	4	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D|TNNI3_ENST00000590463.1_5'Flank	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	182					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(544-546)gaG>gaT		troponin I type 3 (cardiac)							66	69	68					19																	55665401		2061	4216	6277	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55665401C>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.546G>T	19.37:g.55665401C>A	ENSP00000341838:p.Glu182Asp					TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	p.E182D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	688	-			182						Missense_Mutation	SNP	ENST00000344887.5	37	c.546G>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374201	0.42105	.	.	ENSG00000129991	ENST00000344887	D	0.94862	-3.54	4.72	3.67	0.42095	.	0.379769	0.24211	N	0.040530	D	0.88880	0.6557	L	0.31752	0.955	0.45250	D	0.998251	B	0.02656	0.0	B	0.01281	0.0	D	0.84146	0.0420	10	0.52906	T	0.07	-10.4701	7.9263	0.29876	0.0:0.7478:0.1621:0.0902	.	182	P19429	TNNI3_HUMAN	D	182	ENSP00000341838:E182D	ENSP00000341838:E182D	E	-	3	2	TNNI3	60357213	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	2.445000	0.44899	1.103000	0.41568	0.585000	0.79938	GAG		0.622	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			108	464	1	0	1.43872e-54	1	1.79623e-54	108	464					A	55665401	C	A	55665401	3	1	79	1	0	0	0	0	1	0	0	0	16380	912	32	3	94	3	TNNI3	19	55665401	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2140	55665401	3463582	19733	30050											
TNNI3	7137	broad.mit.edu	37	chr19	55668952	55668952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggcatcactcacccatcCgccatgctgagactcaggcc	10	16	3	1	rs397516361		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55668952C>T	ENST00000344887.5	-	1	148	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_3'UTR|DNAAF3_ENST00000587789.2_5'Flank|TNNI3_ENST00000590463.1_5'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	2			A -> V (in CMD2A). {ECO:0000269|PubMed:15070570}.		cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687																																						ENST00000344887.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(4-6)gcG>gcA		troponin I type 3 (cardiac)							84	94	91					19																	55668952		1969	4167	6136	SO:0001819	synonymous_variant	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55668952C>T	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.6G>A	19.37:g.55668952C>T						TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.4_ENST00000587871.1_3'UTR	p.A2A	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	1	148	-			2		A -> V (in CMD2A).				Silent	SNP	ENST00000344887.5	37	c.6G>A	CCDS42628.1																																																																																				0.687	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			172	709	0	0	0	1	0	172	709					T	55668952	C	T	55668952	2	4	79	1	0	0	0	0	0	0	0	1	16380	639	23	1		1	TNNI3	19	55668952	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3551	55668952	3460031	19734	30051											
C19orf51	352909	broad.mit.edu	37	chr19	55672787	55672787	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtgaatgacttgagcCtggggtggggggcgggaaga	23	4	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55672787C>T	ENST00000524407.2	-	7	697		c.e7-1		DNAAF3_ENST00000455045.1_Splice_Site|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank|DNAAF3_ENST00000391720.4_Splice_Site|DNAAF3_ENST00000527223.2_Splice_Site			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3						axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											TGACTTGAGCCTGGGGTGGGG	0.662																																						ENST00000527223.2																			0											c.e7-1		dynein, axonemal, assembly factor 3							11	16	14					19																	55672787		1877	4045	5922	SO:0001630	splice_region_variant	352909							g.chr19:55672787C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.664-1G>A	19.37:g.55672787C>T						DNAAF3_ENST00000524407.2_Splice_Site|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Splice_Site|DNAAF3_ENST00000455045.1_Splice_Site		NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			7	869	-								A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Splice_Site	SNP	ENST00000524407.2	37		CCDS59422.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874690	0.33069	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9309	0.70914	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf51	60364599	1.000000	0.71417	0.931000	0.37212	0.201000	0.24016	3.913000	0.56394	2.324000	0.78689	0.549000	0.68633	.		0.662	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837	Intron	24	97	0	0	0	1	0	24	97					T	55672787	C	T	55672787	5	4	79	1	0	0	0	0	0	0	1	0	1940	695	24	2	986	2	C19orf51	19	55672787	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3835	55672787	3456196	19735	30052											
C19orf51	352909	broad.mit.edu	37	chr19	55677365	55677365	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggagtctgggtccacaggaGgacctggcaagatgacagct	16	9	1	2	rs200206266		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55677365G>T	ENST00000524407.2	-	3	122	c.89C>A	c.(88-90)cCt>cAt	p.P30H	DNAAF3_ENST00000455045.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P77H|DNAAF3_ENST00000527223.2_Missense_Mutation_p.P98H|snoU13_ENST00000459370.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	30					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GTCCACAGGAGGACCTGGCAA	0.592											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527223.2																			0											c.(292-294)cCt>cAt		dynein, axonemal, assembly factor 3							46	54	51					19																	55677365		2082	4228	6310	SO:0001583	missense	352909							g.chr19:55677365G>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.89C>A	19.37:g.55677365G>T	ENSP00000432046:p.Pro30His		OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	DNAAF3_ENST00000524407.2_Missense_Mutation_p.P30H|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.P77H	p.P98H	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			3	294	-			30					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.293C>A	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342162	0.61073	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.19250	2.16	4.04	4.04	0.47022	.	0.537042	0.17764	N	0.162820	T	0.37972	0.1023	L	0.46157	1.445	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.762	D;D;B	0.91635	0.999;0.999;0.322	T	0.03807	-1.1002	10	0.38643	T	0.18	-15.3588	13.5725	0.61856	0.0:0.0:1.0:0.0	.	98;51;30	E9PAX5;Q8N9W5-3;Q8N9W5	.;.;CS051_HUMAN	H	98;77;98	ENSP00000375600:P77H	ENSP00000301249:P98H	P	-	2	0	C19orf51	60369177	1.000000	0.71417	0.927000	0.36925	0.512000	0.34134	3.527000	0.53517	2.255000	0.74692	0.561000	0.74099	CCT		0.592	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		35	180	1	0	1.03484e-13	1	1.11885e-13	35	180					T	55677365	G	T	55677365	3	4	79	1	0	0	0	0	1	0	0	0	1940	1000	35	3	1576	3	C19orf51	19	55677365	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4578	55677365	3451618	19736	30053											
SYT5	6861	broad.mit.edu	37	chr19	55687085	55687085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagctcaccttgaaggCgaaggtctccccaaagtgag	13	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687085C>T	ENST00000354308.3	-	5	901	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	178	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGAAGGCGAAGGTCTCC	0.627																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(532-534)Gcc>Acc		synaptotagmin V							124	114	117					19																	55687085		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687085C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.532G>A	19.37:g.55687085C>T	ENSP00000346265:p.Ala178Thr					SYT5_ENST00000590851.1_Missense_Mutation_p.A175T|SYT5_ENST00000537500.1_Missense_Mutation_p.A178T|CTD-2587H24.5_ENST00000591665.1_RNA	p.A178T	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	901	-			178			C2 1.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.532G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	7.866	0.727184	0.15439	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.67698	-0.28;-0.28	4.54	3.41	0.39046	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.319059	0.33199	N	0.005177	T	0.22859	0.0552	N	0.00595	-1.35	0.32241	N	0.572744	B;B;B	0.21753	0.047;0.06;0.008	B;B;B	0.20955	0.032;0.005;0.01	T	0.46569	-0.9182	10	0.02654	T	1	.	3.4824	0.07607	0.2164:0.5961:0.0:0.1876	.	175;178;178	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	T	178;178;175	ENSP00000442896:A178T;ENSP00000346265:A178T	ENSP00000346265:A178T	A	-	1	0	SYT5	60378897	0.910000	0.30920	0.990000	0.47175	0.955000	0.61496	1.263000	0.33004	2.480000	0.83734	0.555000	0.69702	GCC		0.627	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		66	373	0	0	0	1	0	66	373					T	55687085	C	T	55687085	3	4	79	1	0	0	0	0	1	0	0	0	15529	768	27	1	648	1	SYT5	19	55687085	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9720	55687085	3441898	19737	30054											
SYT5	6861	broad.mit.edu	37	chr19	55687147	55687147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtctcgtaccgcctcCgtttgtccggcagcaggtag	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687147C>T	ENST00000354308.3	-	5	839	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.R157Q|SYT5_ENST00000590851.1_Missense_Mutation_p.R154Q|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	157	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTACCGCCTCCGTTTGTCCGG	0.612																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(469-471)cGg>cAg		synaptotagmin V							110	106	107					19																	55687147		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55687147C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.470G>A	19.37:g.55687147C>T	ENSP00000346265:p.Arg157Gln					SYT5_ENST00000590851.1_Missense_Mutation_p.R154Q|SYT5_ENST00000537500.1_Missense_Mutation_p.R157Q|CTD-2587H24.5_ENST00000591665.1_RNA	p.R157Q	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	5	839	-			157			C2 1.		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.470G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667558	0.88348	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.69040	-0.37;-0.37	4.54	1.16	0.20824	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.124256	0.52532	N	0.000078	T	0.50326	0.1609	N	0.17564	0.495	0.36617	D	0.875536	D;B;D	0.56968	0.978;0.304;0.957	P;B;P	0.50537	0.603;0.028;0.643	T	0.55885	-0.8070	10	0.66056	D	0.02	.	2.4942	0.04617	0.2129:0.4374:0.0:0.3497	.	154;157;157	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	Q	157;157;154	ENSP00000442896:R157Q;ENSP00000346265:R157Q	ENSP00000346265:R157Q	R	-	2	0	SYT5	60378959	1.000000	0.71417	0.603000	0.28903	0.821000	0.46438	3.265000	0.51561	0.584000	0.29591	0.555000	0.69702	CGG		0.612	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		47	423	0	0	0	1	0	47	423					T	55687147	C	T	55687147	3	4	79	1	0	0	0	0	1	0	0	0	15529	652	23	1	710	1	SYT5	19	55687147	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62	55687147	3441836	19738	30055											
SYT5	6861	broad.mit.edu	37	chr19	55689710	55689710	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggcctgagaccagcaCgatggtggccagggcccagg	18	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55689710C>T	ENST00000354308.3	-	3	475	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.V36M|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	36					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGACCAGCACGATGGTGGCC	0.617																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(106-108)Gtg>Atg		synaptotagmin V							23	24	23					19																	55689710		2203	4300	6503	SO:0001583	missense	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689710C>T	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.106G>A	19.37:g.55689710C>T	ENSP00000346265:p.Val36Met					SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Missense_Mutation_p.V36M	p.V36M	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	475	-			36					B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	c.106G>A	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969891	0.53614	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	T;T	0.55413	0.52;0.52	4.06	-4.23	0.03789	.	0.438834	0.23508	N	0.047428	T	0.26484	0.0647	N	0.24115	0.695	0.32416	N	0.549983	B;P	0.46987	0.275;0.888	B;B	0.38842	0.016;0.283	T	0.38200	-0.9672	10	0.46703	T	0.11	.	4.6511	0.12596	0.1177:0.2183:0.5288:0.1352	.	36;36	Q4FD32;O00445	.;SYT5_HUMAN	M	36	ENSP00000442896:V36M;ENSP00000346265:V36M	ENSP00000346265:V36M	V	-	1	0	SYT5	60381522	0.030000	0.19436	0.904000	0.35570	0.929000	0.56500	-0.074000	0.11450	-0.275000	0.09219	0.561000	0.74099	GTG		0.617	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		18	88	0	0	0	1	0	18	88					T	55689710	C	T	55689710	3	4	79	1	0	0	0	0	1	0	0	0	15529	536	19	1	1082	1	SYT5	19	55689710	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2563	55689710	3439273	19739	30056											
PTPRH	5794	broad.mit.edu	37	chr19	55696921	55696921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtctgatccagccactgcCgaagcatcctccagaaagcc	9	15	1	2	rs367681827		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55696921C>T	ENST00000376350.3	-	18	3033	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1004	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)		CAGCCACTGCCGAAGCATCCT	0.627																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3010-3012)cGg>cAg		protein tyrosine phosphatase, receptor type, H		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	54	47	50		2477,3011	4.2	0	19		50	0,8600		0,0,4300	no	missense,missense	PTPRH	NM_001161440.1,NM_002842.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	826/938,1004/1116	55696921	1,13005	2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55696921C>T		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.3011G>A	19.37:g.55696921C>T	ENSP00000365528:p.Arg1004Gln					PTPRH_ENST00000263434.5_Missense_Mutation_p.R826Q	p.R1004Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	18	3033	-		Renal(1328;0.245)	1004			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3011G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568486	0.65651	2.27E-4	0.0	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.84070	-1.8;-1.8	5.21	4.18	0.49190	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.280866	0.19786	N	0.106116	D	0.86197	0.5875	L	0.37466	1.105	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.77557	0.987;0.99	D	0.86387	0.1733	10	0.56958	D	0.05	.	13.0867	0.59144	0.0:0.9202:0.0:0.0798	.	826;1004	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	1004;826	ENSP00000365528:R1004Q;ENSP00000263434:R826Q	ENSP00000263434:R826Q	R	-	2	0	PTPRH	60388733	0.090000	0.21635	0.040000	0.18447	0.275000	0.26752	2.734000	0.47368	1.357000	0.45904	0.650000	0.86243	CGG		0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			27	192	0	0	0	1	0	27	192					T	55696921	C	T	55696921	3	4	79	1	0	0	0	0	1	0	0	0	12853	652	23	1	348	1	PTPRH	19	55696921	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7211	55696921	3432062	19740	30057											
PTPRH	5794	broad.mit.edu	37	chr19	55708507	55708507	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacgcacagaggctctgCgtggaactggctacgtcatt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708507C>T	ENST00000376350.3	-	9	1990	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	PTPRH_ENST00000263434.5_Silent_p.T478T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	656	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)		AGAGGCTCTGCGTGGAACTGG	0.547																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1966-1968)acG>acA		protein tyrosine phosphatase, receptor type, H							123	96	105					19																	55708507		2203	4300	6503	SO:0001819	synonymous_variant	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708507C>T		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.1968G>A	19.37:g.55708507C>T						PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.T478T	p.T656T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1990	-		Renal(1328;0.245)	656			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	37	c.1968G>A	CCDS33110.1																																																																																				0.547	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			37	165	0	0	0	1	0	37	165					T	55708507	C	T	55708507	2	4	79	1	0	0	0	0	0	0	0	1	12853	755	27	1		1	PTPRH	19	55708507	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11586	55708507	3420476	19741	30058											
PTPRH	5794	broad.mit.edu	37	chr19	55708767	55708767	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagtttcattctggagatCtgtgacctcattgggagctg	12	8	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708767C>T	ENST00000376350.3	-	9	1730	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	570	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)		TTCTGGAGATCTGTGACCTCA	0.557																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(1708-1710)Gat>Aat		protein tyrosine phosphatase, receptor type, H							62	66	65					19																	55708767		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55708767C>T		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.1708G>A	19.37:g.55708767C>T	ENSP00000365528:p.Asp570Asn					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.D392N	p.D570N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	9	1730	-		Renal(1328;0.245)	570			Fibronectin type-III 7.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1708G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	4.720	0.133908	0.09032	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.52057	0.68;0.68	4.94	-3.87	0.04218	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24122	0.0584	L	0.39020	1.185	0.09310	N	1	B;B;B	0.19331	0.003;0.002;0.035	B;B;B	0.18871	0.01;0.004;0.023	T	0.34675	-0.9819	9	0.05620	T	0.96	.	1.3223	0.02118	0.128:0.3414:0.2322:0.2984	.	392;392;570	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	N	570;392	ENSP00000365528:D570N;ENSP00000263434:D392N	ENSP00000263434:D392N	D	-	1	0	PTPRH	60400579	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.170000	0.09897	-0.451000	0.07097	0.655000	0.94253	GAT		0.557	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			19	367	0	0	0	1	0	19	367					T	55708767	C	T	55708767	3	4	79	1	0	0	0	0	1	0	0	0	12853	913	32	2	1687	2	PTPRH	19	55708767	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	260	55708767	3420216	19742	30059											
PTPRH	5794	broad.mit.edu	37	chr19	55713637	55713637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggacctcccaggtcagggCgatggagctgttggtctgag	18	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55713637C>T	ENST00000376350.3	-	6	962	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	314	Fibronectin type-III 4. {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)		CAGGTCAGGGCGATGGAGCTG	0.582																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(940-942)Gcc>Acc		protein tyrosine phosphatase, receptor type, H							106	88	94					19																	55713637		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55713637C>T		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.940G>A	19.37:g.55713637C>T	ENSP00000365528:p.Ala314Thr					PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.A136T	p.A314T	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	6	962	-		Renal(1328;0.245)	314			Fibronectin type-III 4.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.940G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.534429	0.00145	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.54479	0.57;0.57	3.89	-1.5	0.08691	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19485	0.0468	N	0.03154	-0.405	0.09310	N	1	B;B;B	0.16396	0.004;0.003;0.017	B;B;B	0.12837	0.008;0.003;0.004	T	0.25847	-1.0120	9	0.02654	T	1	.	4.4153	0.11454	0.1487:0.1943:0.0:0.657	.	136;136;314	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	T	314;136	ENSP00000365528:A314T;ENSP00000263434:A136T	ENSP00000263434:A136T	A	-	1	0	PTPRH	60405449	0.751000	0.28327	0.088000	0.20740	0.011000	0.07611	0.629000	0.24538	-0.434000	0.07275	-2.769000	0.00120	GCC		0.582	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			62	341	0	0	0	1	0	62	341					T	55713637	C	T	55713637	3	4	79	1	0	0	0	0	1	0	0	0	12853	768	27	1	2467	1	PTPRH	19	55713637	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4870	55713637	3415346	19743	30060											
SAPS1	22870	broad.mit.edu	37	chr19	55748115	55748115	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccctgggcctcttcctcGtcctcctcttcctcatcatc	6	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55748115G>A	ENST00000412770.2	-	17	2450	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	PPP6R1_ENST00000587283.1_Silent_p.D628D|AC010327.1_ENST00000581390.1_RNA	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	628	Glu-rich.|Poly-Glu.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CCTCTTCCTCGTCCTCCTCTT	0.632																																						ENST00000412770.2																			0				breast(1)	1						c.(1882-1884)gaC>gaT		protein phosphatase 6, regulatory subunit 1							76	77	77					19																	55748115		2034	4177	6211	SO:0001819	synonymous_variant	22870				regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding	g.chr19:55748115G>A	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.1884C>T	19.37:g.55748115G>A						PPP6R1_ENST00000587283.1_Silent_p.D628D	p.D628D	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN			17	2450	-			628			Glu-rich.|Poly-Glu.		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	ENST00000412770.2	37	c.1884C>T	CCDS46186.1																																																																																				0.632	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		10	197	0	0	0	1	0	10	197					A	55748115	G	A	55748115	2	1	79	1	0	0	0	0	0	0	0	1	13886	1136	40	1		1	SAPS1	19	55748115	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34478	55748115	3380868	19744	30061											
HSPBP1	23640	broad.mit.edu	37	chr19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggggctgtgctctgtcCgcaccagggccaccagctgc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55777302C>T	ENST00000255631.5	-	7	1155	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q|HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	285					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)		GTGCTCTGTCCGCACCAGGGC	0.687																																						ENST00000255631.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(844-846)cGg>cAg		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							18	19	19					19																	55777302		2201	4298	6499	SO:0001583	missense	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55777302C>T		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.845G>A	19.37:g.55777302C>T	ENSP00000255631:p.Arg282Gln					HSPBP1_ENST00000433386.2_Missense_Mutation_p.R282Q|HSPBP1_ENST00000376343.3_Intron|HSPBP1_ENST00000587922.1_Missense_Mutation_p.R282Q	p.R282Q	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1155	-			285					B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	ENST00000255631.5	37	c.845G>A	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	14.79	2.640143	0.47153	.	.	ENSG00000133265	ENST00000433386;ENST00000255631	T;T	0.50548	0.74;0.74	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.201340	0.43110	D	0.000614	T	0.46619	0.1402	L	0.31752	0.955	0.80722	D	1	D;B	0.89917	1.0;0.086	P;B	0.55545	0.778;0.004	T	0.26710	-1.0095	10	0.10377	T	0.69	-5.7405	15.7097	0.77615	0.0:1.0:0.0:0.0	.	285;328	Q9NZL4;B4DG11	HPBP1_HUMAN;.	Q	282	ENSP00000398244:R282Q;ENSP00000255631:R282Q	ENSP00000255631:R282Q	R	-	2	0	HSPBP1	60469114	1.000000	0.71417	0.957000	0.39632	0.983000	0.72400	2.363000	0.44178	2.058000	0.61347	0.486000	0.48141	CGG		0.687	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		7	80	0	0	0	1	0	7	80					T	55777302	C	T	55777302	3	4	79	1	0	0	0	0	1	0	0	0	7456	652	23	1	246	1	HSPBP1	19	55777302	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29187	55777302	3351681	19745	30062											
BRSK1	84446	broad.mit.edu	37	chr19	55805718	55805718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaaatatgatggccgcCgggcagacatgtggagctgt	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55805718C>T	ENST00000309383.1	+	7	908	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGATGGCCGCCGGGCAGACAT	0.592																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(631-633)Cgg>Tgg		BR serine/threonine kinase 1							82	82	82					19																	55805718		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805718C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.631C>T	19.37:g.55805718C>T	ENSP00000310649:p.Arg211Trp					BRSK1_ENST00000590333.1_Missense_Mutation_p.R227W|BRSK1_ENST00000585418.1_Missense_Mutation_p.R211W	p.R211W	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	7	908	+		Renal(1328;0.245)	211			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.631C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050648	0.75960	.	.	ENSG00000160469	ENST00000309383	T	0.26223	1.75	4.79	2.43	0.29744	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.41811	0.1175	L	0.49699	1.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.972	T	0.39035	-0.9633	10	0.87932	D	0	.	12.2446	0.54563	0.3075:0.6925:0.0:0.0	.	211;227	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	W	211	ENSP00000310649:R211W	ENSP00000310649:R211W	R	+	1	2	BRSK1	60497530	0.966000	0.33281	1.000000	0.80357	0.967000	0.64934	0.456000	0.21859	1.117000	0.41842	0.561000	0.74099	CGG		0.592	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		39	152	0	0	0	1	0	39	152					T	55805718	C	T	55805718	3	4	79	1	0	0	0	0	1	0	0	0	1527	643	23	1	657	1	BRSK1	19	55805718	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28416	55805718	3323265	19746	30063											
TMEM150B	284417	broad.mit.edu	37	chr19	55824302	55824302	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacggctgaacacacagggtGcagctctccagggcggagaa	14	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55824302G>T	ENST00000326652.4	-	8	809	c.627C>A	c.(625-627)tgC>tgA	p.C209*	CTD-2105E13.14_ENST00000596786.1_RNA|TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	209						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CACACAGGGTGCAGCTCTCCA	0.692																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(625-627)tgC>tgA		transmembrane protein 150B							24	29	27					19																	55824302		2135	4248	6383	SO:0001587	stop_gained	284417					integral to membrane		g.chr19:55824302G>T	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"transmembrane protein 224"	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.627C>A	19.37:g.55824302G>T	ENSP00000320757:p.Cys209*					TMEM150B_ENST00000438693.1_Nonsense_Mutation_p.C209*	p.C209*			A6NC51	T150B_HUMAN			8	809	-			209					B7ZW71	Nonsense_Mutation	SNP	ENST00000326652.4	37	c.627C>A	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839759	0.51057	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	.	.	.	4.55	2.4	0.29515	.	0.319446	0.33854	N	0.004487	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-31.8358	7.383	0.26866	0.2106:0.0:0.7894:0.0	.	.	.	.	X	209	.	ENSP00000320757:C209X	C	-	3	2	TMEM150B	60516114	0.498000	0.26075	0.996000	0.52242	0.190000	0.23558	0.360000	0.20250	0.622000	0.30249	-0.350000	0.07774	TGC		0.692	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		24	93	1	0	2.32416e-17	1	2.56562e-17	24	93					T	55824302	G	T	55824302	4	4	79	1	0	0	0	0	0	1	0	0	16120	1311	46	3	78	3	TMEM150B	19	55824302	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18584	55824302	3304681	19747	30064											
SUV420H2	84787	broad.mit.edu	37	chr19	55853326	55853326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggcccgacagagtgacaGcacgagaactgtgcgagaac	15	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55853326G>T	ENST00000255613.3	+	2	270	c.22G>T	c.(22-24)Gca>Tca	p.A8S	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	8					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(22-24)Gca>Tca		suppressor of variegation 4-20 homolog 2 (Drosophila)							107	92	97					19																	55853326		2203	4300	6503	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853326G>T	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.22G>T	19.37:g.55853326G>T	ENSP00000255613:p.Ala8Ser					AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	p.A8S	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	2	270	+	Breast(117;0.191)		8					Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.22G>T	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841318	0.71488	.	.	ENSG00000133247	ENST00000255613;ENST00000402499	.	.	.	3.35	2.29	0.28610	.	0.100342	0.38436	N	0.001683	T	0.63355	0.2504	L	0.39147	1.195	0.44694	D	0.997688	D	0.67145	0.996	D	0.65874	0.939	T	0.64715	-0.6342	9	0.59425	D	0.04	0.7173	11.485	0.50348	0.0:0.0:0.8176:0.1823	.	8	Q86Y97	SV422_HUMAN	S	8	.	ENSP00000255613:A8S	A	+	1	0	SUV420H2	60545138	1.000000	0.71417	0.964000	0.40570	0.765000	0.43378	7.043000	0.76572	0.945000	0.37605	-0.311000	0.09066	GCA		0.652	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		110	497	1	0	5.13333e-58	1	6.43346e-58	110	497					T	55853326	G	T	55853326	3	4	79	1	0	0	0	0	1	0	0	0	15467	971	34	3	24	3	SUV420H2	19	55853326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29024	55853326	3275657	19748	30065											
SUV420H2	84787	broad.mit.edu	37	chr19	55857588	55857588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttggccctcagtttgtgcCtgcagatgggaacgcagcct	13	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55857588C>A	ENST00000255613.3	+	7	826	c.578C>A	c.(577-579)cCt>cAt	p.P193H		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	193	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGTTTGTGCCTGCAGATGGG	0.667																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(577-579)cCt>cAt		suppressor of variegation 4-20 homolog 2 (Drosophila)							113	95	101					19																	55857588		2203	4300	6503	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55857588C>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.578C>A	19.37:g.55857588C>A	ENSP00000255613:p.Pro193His						p.P193H	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	7	826	+	Breast(117;0.191)		193			SET.		Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.578C>A	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615474	0.66672	.	.	ENSG00000133247	ENST00000255613	D	0.86694	-2.16	3.93	3.93	0.45458	SET domain (3);	0.000000	0.64402	D	0.000016	D	0.91526	0.7324	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.91151	0.4953	10	0.41790	T	0.15	-17.7373	15.2907	0.73865	0.0:1.0:0.0:0.0	.	193	Q86Y97	SV422_HUMAN	H	193	ENSP00000255613:P193H	ENSP00000255613:P193H	P	+	2	0	SUV420H2	60549400	0.935000	0.31712	0.902000	0.35471	0.572000	0.35998	7.140000	0.77322	2.186000	0.69663	0.655000	0.94253	CCT		0.667	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		73	337	1	0	3.25985e-27	1	3.7718e-27	73	337					A	55857588	C	A	55857588	3	1	79	1	0	0	0	0	1	0	0	0	15467	681	24	3	600	3	SUV420H2	19	55857588	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4262	55857588	3271395	19749	30066											
RPL28	6158	broad.mit.edu	37	chr19	55899621	55899621	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccccaggcagccatccGcagggccagcgccatcctgc	11	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55899621G>A	ENST00000344063.2	+	5	964	c.335G>A	c.(334-336)cGc>cAc	p.R112H	RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000560055.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28	112					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCAGCCATCCGCAGGGCCAGC	0.667																																						ENST00000344063.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(334-336)cGc>cAc		ribosomal protein L28							12	16	15					19																	55899621		2190	4275	6465	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55899621G>A	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.335G>A	19.37:g.55899621G>A	ENSP00000342787:p.Arg112His					RPL28_ENST00000560583.1_3'UTR|RPL28_ENST00000558815.1_Intron|RPL28_ENST00000559463.1_Missense_Mutation_p.R112H|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000458349.2_Intron|RPL28_ENST00000560055.1_Intron	p.R112H			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	5	964	+	Breast(117;0.191)	Renal(1328;0.245)	112					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.335G>A	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577856	0.65878	.	.	ENSG00000108107	ENST00000344063	T	0.46819	0.86	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.74467	2.265	0.80722	D	1	B	0.25235	0.121	B	0.25405	0.06	T	0.56535	-0.7963	10	0.56958	D	0.05	.	13.1887	0.59697	0.0:0.0:1.0:0.0	.	112	P46779	RL28_HUMAN	H	112	ENSP00000342787:R112H	ENSP00000342787:R112H	R	+	2	0	RPL28	60591433	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.890000	0.92477	1.864000	0.54056	0.462000	0.41574	CGC		0.667	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		11	48	0	0	0	1	0	11	48					A	55899621	G	A	55899621	3	1	79	1	0	0	0	0	1	0	0	0	13627	1087	38	1	585	1	RPL28	19	55899621	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42033	55899621	3229362	19750	30067											
UBE2S	27338	broad.mit.edu	37	chr19	55913000	55913000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccgctgggcccgccgGcgcccccgtggatctctgtg	14	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55913000G>A	ENST00000264552.9	-	4	660	c.473C>T	c.(472-474)gCc>gTc	p.A158V	UBE2S_ENST00000592570.1_5'Flank|CTD-2105E13.13_ENST00000589101.1_lincRNA|RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	158					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGGCCCGCCGGCGCCCCCGTG	0.731																																						ENST00000264552.9																			0				lung(1)	1						c.(472-474)gCc>gTc		ubiquitin-conjugating enzyme E2S							4	6	6					19																	55913000		1774	3695	5469	SO:0001583	missense	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55913000G>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"Ubiquitin-conjugating enzymes E2"	17895	protein-coding gene	gene with protein product	"ubiquitin carrier protein", "ubiquitin-conjugating enzyme E2-24 kD", "ubiquitin-protein ligase"	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.473C>T	19.37:g.55913000G>A	ENSP00000264552:p.Ala158Val					RPL28_ENST00000560055.1_Intron	p.A158V	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	4	660	-	Breast(117;0.155)		158					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.473C>T	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414335	0.25465	.	.	ENSG00000108106	ENST00000264552	T	0.58797	0.31	4.24	4.24	0.50183	Ubiquitin-conjugating enzyme/RWD-like (1);	0.230253	0.44688	D	0.000439	T	0.39600	0.1084	N	0.12569	0.235	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.23440	-1.0188	10	0.33940	T	0.23	-17.454	14.5214	0.67853	0.0:0.0:1.0:0.0	.	158	Q16763	UBE2S_HUMAN	V	158	ENSP00000264552:A158V	ENSP00000264552:A158V	A	-	2	0	UBE2S	60604812	0.556000	0.26538	0.117000	0.21633	0.156000	0.22039	4.405000	0.59741	2.095000	0.63458	0.561000	0.74099	GCC		0.731	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		22	98	0	0	0	1	0	22	98					A	55913000	G	A	55913000	3	1	79	1	0	0	0	0	1	0	0	0	16926	1203	42	2	199	2	UBE2S	19	55913000	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13379	55913000	3215983	19751	30068											
ISOC2	79763	broad.mit.edu	37	chr19	55964733	55964733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtccgctgtctggggcgGgctccttgatgagtttctgg	16	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55964733G>A	ENST00000425675.2	-	6	620	c.560C>T	c.(559-561)cCc>cTc	p.P187L	ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L|ISOC2_ENST00000438389.2_Missense_Mutation_p.P117L			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	187					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)		GTCTGGGGCGGGCTCCTTGAT	0.602																																						ENST00000438389.2																			0				endometrium(1)|lung(4)|ovary(1)|stomach(1)	7						c.(349-351)cCc>cTc		isochorismatase domain containing 2							73	72	72					19																	55964733		2203	4300	6503	SO:0001583	missense	79763				protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding	g.chr19:55964733G>A	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.560C>T	19.37:g.55964733G>A	ENSP00000401726:p.Pro187Leu					ISOC2_ENST00000085068.3_Missense_Mutation_p.P203L|ISOC2_ENST00000425675.2_Missense_Mutation_p.P187L	p.P117L	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)	5	1184	-	Breast(117;0.155)		187					Q6ZN91|Q9H5G0	Missense_Mutation	SNP	ENST00000425675.2	37	c.350C>T	CCDS46195.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854128	0.51270	.	.	ENSG00000063241	ENST00000085068;ENST00000425675;ENST00000438389	.	.	.	4.59	4.59	0.56863	Isochorismatase-like (2);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	N	0.17474	0.49	0.80722	D	1	B;B;B	0.29766	0.144;0.256;0.165	B;B;B	0.32928	0.155;0.043;0.044	T	0.42137	-0.9469	9	0.37606	T	0.19	-9.5899	15.2799	0.73773	0.0:0.0:1.0:0.0	.	117;187;203	Q96AB3-3;Q96AB3;Q96AB3-2	.;ISOC2_HUMAN;.	L	203;187;117	.	ENSP00000085068:P203L	P	-	2	0	ISOC2	60656545	1.000000	0.71417	0.932000	0.37286	0.660000	0.38997	8.136000	0.89610	2.275000	0.75901	0.555000	0.69702	CCC		0.602	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453179.1	NM_024710		21	107	0	0	0	1	0	21	107					A	55964733	G	A	55964733	3	1	79	1	0	0	0	0	1	0	0	0	7893	1232	43	2	61	2	ISOC2	19	55964733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51733	55964733	3164250	19752	30069											
ZNF628	89887	broad.mit.edu	37	chr19	55992598	55992598	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctcccacgcggacatggCgccggcctctactgcggagg	15	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992598C>T	ENST00000598519.1	+	3	591	c.38C>T	c.(37-39)gCg>gTg	p.A13V	ZNF628_ENST00000391718.2_Missense_Mutation_p.A9V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	13					transcription, DNA-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)		GCGGACATGGCGCCGGCCTCT	0.692																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(25-27)gCg>gTg		zinc finger protein 628							6	7	7					19																	55992598		2151	4180	6331	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55992598C>T	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.38C>T	19.37:g.55992598C>T	ENSP00000469591:p.Ala13Val					ZNF628_ENST00000598519.1_Missense_Mutation_p.A13V	p.A9V			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	591	+	Breast(117;0.155)		9					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.26C>T	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987732	0.35036	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.68	2.61	0.31194	.	0.401667	0.17889	U	0.158600	T	0.04497	0.0123	N	0.08118	0	0.23356	N	0.997846	B	0.13594	0.008	B	0.06405	0.002	T	0.37009	-0.9724	10	0.46703	T	0.11	-6.259	9.5362	0.39224	0.0:0.8899:0.0:0.1101	.	9	Q5EBL2	ZN628_HUMAN	V	9	ENSP00000375598:A9V	ENSP00000375598:A9V	A	+	2	0	ZNF628	60684410	0.139000	0.22563	0.978000	0.43139	0.504000	0.33889	0.442000	0.21628	0.876000	0.35872	0.289000	0.19496	GCG		0.692	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		13	39	0	0	0	1	0	13	39					T	55992598	C	T	55992598	3	4	79	1	0	0	0	0	1	0	0	0	18105	768	27	1	28	1	ZNF628	19	55992598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27865	55992598	3136385	19753	30070											
ZNF628	89887	broad.mit.edu	37	chr19	55992868	55992868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcccaaggccttcaagcGctcctctctgctgcagatcc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992868G>A	ENST00000598519.1	+	3	861	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF628_ENST00000391718.2_Missense_Mutation_p.R99H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	103					transcription, DNA-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)		GCCTTCAAGCGCTCCTCTCTG	0.667																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(295-297)cGc>cAc		zinc finger protein 628							43	42	43					19																	55992868		2203	4300	6503	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55992868G>A	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.308G>A	19.37:g.55992868G>A	ENSP00000469591:p.Arg103His					ZNF628_ENST00000598519.1_Missense_Mutation_p.R103H	p.R99H			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	861	+	Breast(117;0.155)		99					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.296G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	19.05	3.752518	0.69533	.	.	ENSG00000197483	ENST00000391718	T	0.17854	2.25	3.56	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.258407	0.25981	U	0.027075	T	0.20901	0.0503	N	0.13327	0.33	0.36163	D	0.848244	D	0.89917	1.0	D	0.77004	0.989	T	0.13926	-1.0491	10	0.15066	T	0.55	-26.768	13.0316	0.58845	0.0:0.0:1.0:0.0	.	99	Q5EBL2	ZN628_HUMAN	H	99	ENSP00000375598:R99H	ENSP00000375598:R99H	R	+	2	0	ZNF628	60684680	0.006000	0.16342	1.000000	0.80357	0.765000	0.43378	1.379000	0.34340	2.001000	0.58596	0.491000	0.48974	CGC		0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		7	191	0	0	0	1	0	7	191					A	55992868	G	A	55992868	3	1	79	1	0	0	0	0	1	0	0	0	18105	1087	38	1	298	1	ZNF628	19	55992868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	55992868	3136115	19754	30071											
ZNF628	89887	broad.mit.edu	37	chr19	55993021	55993021	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctacccgtgcccggactgccCcaaggccttcaagaactcgt	9	17	1	1	rs369974817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	ENST00000598519.1	+	3	1014	c.461C>A	c.(460-462)cCc>cAc	p.P154H	ZNF628_ENST00000391718.2_Missense_Mutation_p.P150H			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	154					transcription, DNA-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)		CCGGACTGCCCCAAGGCCTTC	0.667																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(448-450)cCc>cAc		zinc finger protein 628							32	33	33					19																	55993021		2203	4297	6500	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55993021C>A	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.461C>A	19.37:g.55993021C>A	ENSP00000469591:p.Pro154His					ZNF628_ENST00000598519.1_Missense_Mutation_p.P154H	p.P150H			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	1014	+	Breast(117;0.155)		150					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.449C>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	8.323	0.824725	0.16678	.	.	ENSG00000197483	ENST00000391718	T	0.07327	3.2	3.62	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.335977	0.21947	U	0.066785	T	0.14056	0.0340	L	0.38531	1.155	0.22842	N	0.998663	D	0.67145	0.996	D	0.64237	0.923	T	0.04333	-1.0959	10	0.72032	D	0.01	-23.133	7.3843	0.26874	0.1768:0.5201:0.3031:0.0	.	150	Q5EBL2	ZN628_HUMAN	H	150	ENSP00000375598:P150H	ENSP00000375598:P150H	P	+	2	0	ZNF628	60684833	0.335000	0.24748	0.996000	0.52242	0.002000	0.02628	0.487000	0.22356	0.355000	0.24131	-1.997000	0.00446	CCC		0.667	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		31	184	1	0	3.80469e-20	1	4.25708e-20	31	184					A	55993021	C	A	55993021	3	1	79	1	0	0	0	0	1	0	0	0	18105	623	22	3	451	3	ZNF628	19	55993021	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	55993021	3135962	19755	30072											
ZNF628	89887	broad.mit.edu	37	chr19	55994231	55994231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgcctgcgtcgccaccgCcacgtgcacactggcgagag	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	ENST00000598519.1	+	3	2224	c.1671C>T	c.(1669-1671)cgC>cgT	p.R557R	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.R553R			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	557					transcription, DNA-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)		GTCGCCACCGCCACGTGCACA	0.701																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1657-1659)cgC>cgT		zinc finger protein 628							22	24	23					19																	55994231		2201	4296	6497	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994231C>T	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.1671C>T	19.37:g.55994231C>T						ZNF628_ENST00000598519.1_Silent_p.R557R	p.R553R			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2224	+	Breast(117;0.155)		553					Q86X34	Silent	SNP	ENST00000598519.1	37	c.1659C>T	CCDS33116.3																																																																																				0.701	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		44	187	0	0	0	1	0	44	187					T	55994231	C	T	55994231	2	4	79	1	0	0	0	0	0	0	0	1	18105	726	26	2		2	ZNF628	19	55994231	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1210	55994231	3134752	19756	30073											
ZNF628	89887	broad.mit.edu	37	chr19	55994536	55994536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacagcccctgccgccgGcccccagccccctgctccac	7	26	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994536G>A	ENST00000598519.1	+	3	2529	c.1976G>A	c.(1975-1977)gGc>gAc	p.G659D	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.G655D			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	659	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTGCCGCCGGCCCCCAGCCC	0.726																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(1963-1965)gGc>gAc		zinc finger protein 628							3	4	4					19																	55994536		1914	3831	5745	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994536G>A	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.1976G>A	19.37:g.55994536G>A	ENSP00000469591:p.Gly659Asp					ZNF628_ENST00000598519.1_Missense_Mutation_p.G659D	p.G655D			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2529	+	Breast(117;0.155)		655			Pro-rich.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.1964G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	11.98	1.800170	0.31869	.	.	ENSG00000197483	ENST00000391718	T	0.02974	4.09	2.47	-0.112	0.13572	.	1.492050	0.05145	U	0.494924	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.21546	0.035	T	0.46762	-0.9168	10	0.62326	D	0.03	-1.864	4.449	0.11611	0.0:0.3508:0.4254:0.2238	.	655	Q5EBL2	ZN628_HUMAN	D	655	ENSP00000375598:G655D	ENSP00000375598:G655D	G	+	2	0	ZNF628	60686348	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	1.216000	0.32443	0.070000	0.16634	-0.314000	0.08810	GGC		0.726	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		15	48	0	0	0	1	0	15	48					A	55994536	G	A	55994536	3	1	79	1	0	0	0	0	1	0	0	0	18105	1203	42	2	1966	2	ZNF628	19	55994536	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	305	55994536	3134447	19757	30074											
ZNF628	89887	broad.mit.edu	37	chr19	55995070	55995070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtccagctccagccagCgcaggaggtgaccacagtcc	12	16	0	1	rs373922538		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	ENST00000598519.1	+	3	3063	c.2510C>T	c.(2509-2511)gCg>gTg	p.A837V	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.A833V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	837	4 X approximate tandem repeats.				transcription, DNA-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)		CTCCAGCCAGCGCAGGAGGTG	0.657																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2497-2499)gCg>gTg		zinc finger protein 628			VAL/ALA	0,4406		0,0,2203	52	61	58		2498	2.9	0.8	19		58	1,8599		0,1,4299	no	missense	ZNF628	NM_033113.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	833/1056	55995070	1,13005	2203	4300	6503	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995070C>T	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.2510C>T	19.37:g.55995070C>T	ENSP00000469591:p.Ala837Val					ZNF628_ENST00000598519.1_Missense_Mutation_p.A837V	p.A833V			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3063	+	Breast(117;0.155)		833			4 X approximate tandem repeats.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2498C>T	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046309	0.36085	0.0	1.16E-4	ENSG00000197483	ENST00000391718	T	0.09445	2.98	2.92	2.92	0.33932	.	.	.	.	.	T	0.07143	0.0181	N	0.19112	0.55	0.09310	N	1	B	0.31125	0.309	B	0.23852	0.049	T	0.25950	-1.0117	9	0.87932	D	0	.	9.4682	0.38826	0.0:1.0:0.0:0.0	.	833	Q5EBL2	ZN628_HUMAN	V	833	ENSP00000375598:A833V	ENSP00000375598:A833V	A	+	2	0	ZNF628	60686882	0.359000	0.24955	0.776000	0.31678	0.778000	0.44026	1.175000	0.31944	1.638000	0.50547	0.450000	0.29827	GCG		0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		113	373	0	0	0	1	0	113	373					T	55995070	C	T	55995070	3	4	79	1	0	0	0	0	1	0	0	0	18105	768	27	1	2500	1	ZNF628	19	55995070	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	55995070	3133913	19758	30075											
ZNF628	89887	broad.mit.edu	37	chr19	55995119	55995119	+	Silent	SNP	G	G	A													ccagcacaggaagtaaccacGgtccagctccagccagcaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	ENST00000598519.1	+	3	3112	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.T849T			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	853	4 X approximate tandem repeats.				transcription, DNA-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)		AAGTAACCACGGTCCAGCTCC	0.657																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2545-2547)acG>acA		zinc finger protein 628							52	59	57					19																	55995119		2203	4299	6502	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995119G>A	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.2559G>A	19.37:g.55995119G>A						ZNF628_ENST00000598519.1_Silent_p.T853T	p.T849T			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3112	+	Breast(117;0.155)		849			4 X approximate tandem repeats.		Q86X34	Silent	SNP	ENST00000598519.1	37	c.2547G>A	CCDS33116.3																																																																																				0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		78	278	0	0	0	1	0	78	278					A	55995119	G	A	55995119	2	1	79	1	0	0	0	0	0	0	0	1	18105	1103	39	1		1	ZNF628	19	55995119	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49	55995119	3133864	19759	30076	196	2									
ZNF628	89887	broad.mit.edu	37	chr19	55995125	55995125	+	Silent	SNP	G	G	A													caggaagtaaccacggtccaGctccagccagcacaggaggt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	ENST00000598519.1	+	3	3118	c.2565G>A	c.(2563-2565)caG>caA	p.Q855Q	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.Q851Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	855	4 X approximate tandem repeats.				transcription, DNA-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)		CCACGGTCCAGCTCCAGCCAG	0.657																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2551-2553)caG>caA		zinc finger protein 628							49	56	54					19																	55995125		2203	4299	6502	SO:0001819	synonymous_variant	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995125G>A	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.2565G>A	19.37:g.55995125G>A						ZNF628_ENST00000598519.1_Silent_p.Q855Q	p.Q851Q			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3118	+	Breast(117;0.155)		851			4 X approximate tandem repeats.		Q86X34	Silent	SNP	ENST00000598519.1	37	c.2553G>A	CCDS33116.3																																																																																				0.657	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		74	250	0	0	0	1	0	74	250					A	55995125	G	A	55995125	2	1	79	1	0	0	0	0	0	0	0	1	18105	962	34	2		2	ZNF628	19	55995125	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	55995125	3133858	19760	30077	196	2									
SBK2	646643	broad.mit.edu	37	chr19	56042645	56042645	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagcgagagccccacacaGaactcgtacaggaagccacg	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56042645G>A	ENST00000413299.1	-	3	358	c.321C>T	c.(319-321)ttC>ttT	p.F107F	SBK2_ENST00000344158.3_Silent_p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCCACACAGAACTCGTACA	0.662																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(319-321)ttC>ttT		SH3 domain binding kinase family, member 2							37	44	42					19																	56042645		2129	4239	6368	SO:0001819	synonymous_variant	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56042645G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"SH3-binding domain kinase family, member 2"				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.321C>T	19.37:g.56042645G>A						SBK2_ENST00000344158.3_Silent_p.F107F	p.F107F	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN			3	358	-			107			Protein kinase.			Silent	SNP	ENST00000413299.1	37	c.321C>T	CCDS42631.1																																																																																				0.662	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		11	148	0	0	0	1	0	11	148					A	56042645	G	A	56042645	2	1	79	1	0	0	0	0	0	0	0	1	13911	933	33	2		2	SBK2	19	56042645	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47520	56042645	3086338	19761	30078											
FIZ1	84922	broad.mit.edu	37	chr19	56104155	56104155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgccgcctcctccccgccGccctcaccgtggctgacccg	10	23	1	1	rs368962867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56104155G>A	ENST00000221665.3	-	3	1241	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	384					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCTCCCCGCCGCCCTCACCGT	0.766																																						ENST00000221665.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(1150-1152)ggC>ggT		FLT3-interacting zinc finger 1		G		0,2658		0,0,1329	6	10	9		1152	-2.3	0.2	19		9	1,6103		0,1,3051	no	coding-synonymous	FIZ1	NM_032836.2		0,1,4380	AA,AG,GG		0.0164,0.0,0.0114		384/497	56104155	1,8761	1329	3052	4381	SO:0001819	synonymous_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104155G>A	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.1152C>T	19.37:g.56104155G>A							p.G384G	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	1241	-			384					A2RU72|Q6ZMJ7	Silent	SNP	ENST00000221665.3	37	c.1152C>T	CCDS12928.1																																																																																				0.766	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		28	111	0	0	0	1	0	28	111					A	56104155	G	A	56104155	2	1	79	1	0	0	0	0	0	0	0	1	5925	1074	38	1		1	FIZ1	19	56104155	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61510	56104155	3024828	19762	30079											
ZNF524	147807	broad.mit.edu	37	chr19	56113511	56113511	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccagacccgttgccttcGcctttgcccggggaggaaga	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56113511G>A	ENST00000591046.1	+	1	267	c.33G>A	c.(31-33)tcG>tcA	p.S11S	FIZ1_ENST00000221665.3_5'Flank|ZNF524_ENST00000301073.3_Silent_p.S11S|FIZ1_ENST00000592585.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S11S(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGTTGCCTTCGCCTTTGCCCG	0.652																																						ENST00000591046.1																			1	Substitution - coding silent(1)	p.S11S(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(6)|prostate(1)	10						c.(31-33)tcG>tcA		zinc finger protein 524							41	45	43					19																	56113511		2203	4300	6503	SO:0001819	synonymous_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56113511G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"Zinc fingers, C2H2-type"	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.33G>A	19.37:g.56113511G>A						ZNF524_ENST00000301073.3_Silent_p.S11S	p.S11S			Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	267	+			11					Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	c.33G>A	CCDS12929.1																																																																																				0.652	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		98	370	0	0	0	1	0	98	370					A	56113511	G	A	56113511	2	1	79	1	0	0	0	0	0	0	0	1	18019	1074	38	1		1	ZNF524	19	56113511	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9356	56113511	3015472	19763	30080											
ZNF524	147807	broad.mit.edu	37	chr19	56114114	56114114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctttacagaggccaacacGctccggcgccatgcgaagcg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56114114G>A	ENST00000591046.1	+	1	870	c.636G>A	c.(634-636)acG>acA	p.T212T	ZNF524_ENST00000301073.3_Silent_p.T212T|ZNF865_ENST00000568956.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	212					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.T212T(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGGCCAACACGCTCCGGCGCC	0.706																																						ENST00000591046.1																			1	Substitution - coding silent(1)	p.T212T(1)	lung(1)	breast(1)|large_intestine(2)|lung(6)|prostate(1)	10						c.(634-636)acG>acA		zinc finger protein 524							16	15	15					19																	56114114		2147	4218	6365	SO:0001819	synonymous_variant	147807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56114114G>A	BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"Zinc fingers, C2H2-type"	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.636G>A	19.37:g.56114114G>A						ZNF524_ENST00000301073.3_Silent_p.T212T	p.T212T			Q96C55	ZN524_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	1	870	+			212					Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	c.636G>A	CCDS12929.1																																																																																				0.706	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219		27	110	0	0	0	1	0	27	110					A	56114114	G	A	56114114	2	1	79	1	0	0	0	0	0	0	0	1	18019	1074	38	1		1	ZNF524	19	56114114	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	603	56114114	3014869	19764	30081											
CCDC106	29903	broad.mit.edu	37	chr19	56160870	56160870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcctggctgcagaagcGcatcgaggacctggaggaag	15	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56160870G>A	ENST00000586790.1	+	3	1137	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H|CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	78						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTGCAGAAGCGCATCGAGGAC	0.607																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(232-234)cGc>cAc		coiled-coil domain containing 106							73	65	68					19																	56160870		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160870G>A	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.233G>A	19.37:g.56160870G>A	ENSP00000465757:p.Arg78His					CCDC106_ENST00000588740.1_Missense_Mutation_p.R78H|CCDC106_ENST00000308964.3_Missense_Mutation_p.R78H|CCDC106_ENST00000591578.1_Missense_Mutation_p.R78H|CCDC106_ENST00000591241.1_Missense_Mutation_p.R43H	p.R78H			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	3	1137	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	78					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.233G>A	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717725	0.89205	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.68238	0.2979	L	0.48642	1.525	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	T	0.72147	-0.4378	9	0.66056	D	0.02	-7.3931	14.0108	0.64495	0.0:0.0:1.0:0.0	.	78	Q9BWC9	CC106_HUMAN	H	78	.	ENSP00000309681:R78H	R	+	2	0	CCDC106	60852682	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.256000	0.72473	1.910000	0.55303	0.462000	0.41574	CGC		0.607	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		41	173	0	0	0	1	0	41	173					A	56160870	G	A	56160870	3	1	79	1	0	0	0	0	1	0	0	0	2748	1087	38	1	243	1	CCDC106	19	56160870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46756	56160870	2968113	19765	30082											
CCDC106	29903	broad.mit.edu	37	chr19	56163952	56163952	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcattgtggcccccgAgaagctggccgaggtgggcg	17	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56163952A>C	ENST00000586790.1	+	5	1587	c.683A>C	c.(682-684)gAg>gCg	p.E228A	CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A|CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|U2AF2_ENST00000308924.4_5'Flank|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	228						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCCCCCGAGAAGCTGGCC	0.662																																						ENST00000586790.1																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(682-684)gAg>gCg		coiled-coil domain containing 106							52	59	56					19																	56163952		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56163952A>C	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.683A>C	19.37:g.56163952A>C	ENSP00000465757:p.Glu228Ala					CCDC106_ENST00000588740.1_Missense_Mutation_p.E228A|CCDC106_ENST00000308964.3_Missense_Mutation_p.E228A|CCDC106_ENST00000591578.1_Missense_Mutation_p.E228A|CCDC106_ENST00000591241.1_Missense_Mutation_p.E193A	p.E228A			Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	5	1587	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	228					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.683A>C	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124616	0.77436	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.48	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.54323	1.7	0.58432	D	0.999995	D	0.67145	0.996	D	0.79784	0.993	T	0.71286	-0.4638	9	0.66056	D	0.02	0.0717	11.4314	0.50043	1.0:0.0:0.0:0.0	.	228	Q9BWC9	CC106_HUMAN	A	228	.	ENSP00000309681:E228A	E	+	2	0	CCDC106	60855764	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	5.552000	0.67281	1.584000	0.49913	0.454000	0.30748	GAG		0.662	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		84	357	0	0	0	1	0	84	357					C	56163952	A	C	56163952	3	2	79	1	0	0	0	0	1	0	0	0	2748	304	11	4	701	4	CCDC106	19	56163952	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3082	56163952	2965031	19766	30083											
U2AF2	11338	broad.mit.edu	37	chr19	56172411	56172411	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccctttgaagctgcgggTcagattccagccactgctct	9	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56172411T>C	ENST00000308924.4	+	5	382	c.342T>C	c.(340-342)ggT>ggC	p.G114G	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000450554.2_Silent_p.G114G			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	114					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AAGCTGCGGGTCAGATTCCAG	0.597																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(340-342)ggT>ggC		U2 small nuclear RNA auxiliary factor 2							68	67	68					19																	56172411		2203	4300	6503	SO:0001819	synonymous_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56172411T>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.342T>C	19.37:g.56172411T>C						U2AF2_ENST00000308924.4_Silent_p.G114G	p.G114G	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	5	1301	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	114					Q96HC5	Silent	SNP	ENST00000308924.4	37	c.342T>C	CCDS12933.1																																																																																				0.597	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		12	336	0	0	0	1	0	12	336					C	56172411	T	C	56172411	2	2	79	1	0	0	0	0	0	0	0	1	16877	1654	58	4		4	U2AF2	19	56172411	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	8459	56172411	2956572	19767	30084											
EPN1	29924	broad.mit.edu	37	chr19	56204384	56204384	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgactccgcacggcactgccGacctccgggagcagcgcagg	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56204384G>A	ENST00000270460.6	+	9	1556	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Silent_p.P501P|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000085079.7_Silent_p.P389P	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	415	Ala/Gly/Pro-rich.				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)		CGGCACTGCCGACCTCCGGGA	0.677																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1501-1503)ccG>ccA		epsin 1							59	72	68					19																	56204384		2090	4217	6307	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56204384G>A	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.1245G>A	19.37:g.56204384G>A						EPN1_ENST00000085079.7_Silent_p.P389P|EPN1_ENST00000270460.6_Silent_p.P415P	p.P501P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	9	2050	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	415			Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.1503G>A	CCDS46199.1																																																																																				0.677	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		122	542	0	0	0	1	0	122	542					A	56204384	G	A	56204384	2	1	79	1	0	0	0	0	0	0	0	1	5203	1045	37	1		1	EPN1	19	56204384	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31973	56204384	2924599	19768	30085											
EPN1	29924	broad.mit.edu	37	chr19	56206203	56206203	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccccccacctgcagCcacaccaactcccacgcccc	7	24	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56206203C>T	ENST00000270460.6	+	10	1687	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	AC010525.7_ENST00000589698.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Missense_Mutation_p.A545V|AC010525.6_ENST00000587937.1_lincRNA|EPN1_ENST00000085079.7_Missense_Mutation_p.A433V	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	459	Ala/Gly/Pro-rich.				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)		CCACCTGCAGCCACACCAACT	0.701																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1633-1635)gCc>gTc		epsin 1							18	30	26					19																	56206203		2062	4186	6248	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206203C>T	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.1376C>T	19.37:g.56206203C>T	ENSP00000270460:p.Ala459Val					EPN1_ENST00000085079.7_Missense_Mutation_p.A433V|EPN1_ENST00000270460.6_Missense_Mutation_p.A459V	p.A545V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	10	2181	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	459			3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1634C>T	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	8.181	0.793851	0.16327	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.49;2.45	4.25	2.07	0.26955	.	0.887707	0.09614	N	0.778490	T	0.05960	0.0155	N	0.02916	-0.46	0.09310	N	0.999997	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.15052	0.001;0.012;0.001;0.001	T	0.42172	-0.9467	10	0.10111	T	0.7	-1.6637	5.5993	0.17345	0.0:0.7411:0.0:0.2589	.	419;545;459;433	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	459;433;419;545	ENSP00000270460:A459V;ENSP00000085079:A433V;ENSP00000406209:A545V	ENSP00000085079:A433V	A	+	2	0	EPN1	60898015	0.000000	0.05858	0.006000	0.13384	0.383000	0.30230	0.040000	0.13905	1.076000	0.40961	0.561000	0.74099	GCC		0.701	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		24	63	0	0	0	1	0	24	63					T	56206203	C	T	56206203	3	4	79	1	0	0	0	0	1	0	0	0	5203	739	26	2	1751	2	EPN1	19	56206203	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1819	56206203	2922780	19769	30086											
NLRP11	204801	broad.mit.edu	37	chr19	56300721	56300721	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cattagtagcaataactatgGcaatatattgacagatatcg	7	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56300721G>T	ENST00000589093.1	-	8	2651	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000443188.1_Missense_Mutation_p.A853D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							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)		AATAACTATGGCAATATATTG	0.408																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2557-2559)gCc>gAc		NLR family, pyrin domain containing 11							127	133	131					19																	56300721		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56300721G>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2558C>A	19.37:g.56300721G>T	ENSP00000466285:p.Ala853Asp					NLRP11_ENST00000589093.1_Missense_Mutation_p.A853D|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754D|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799D|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799D	p.A853D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	10	3268	-		Colorectal(82;0.0002)	853					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2558C>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151332	0.38021	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.58358	0.34;0.34	2.92	-0.783	0.10958	.	.	.	.	.	T	0.74107	0.3673	H	0.94620	3.56	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.98;0.994	T	0.60541	-0.7243	9	0.72032	D	0.01	.	4.9762	0.14142	0.1316:0.4261:0.4424:0.0	.	853;799	P59045;P59045-2	NAL11_HUMAN;.	D	853;799	ENSP00000409898:A853D;ENSP00000353251:A799D	ENSP00000353251:A799D	A	-	2	0	NLRP11	60992533	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.853000	0.27777	-0.047000	0.13423	0.591000	0.81541	GCC		0.408	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		112	553	1	0	1.34498e-63	1	1.69814e-63	112	553					T	56300721	G	T	56300721	3	4	79	1	0	0	0	0	1	0	0	0	10515	1203	42	3	555	3	NLRP11	19	56300721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94518	56300721	2828262	19770	30087											
NLRP11	204801	broad.mit.edu	37	chr19	56320642	56320642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgtatgaacttgtaaCggtctttatgagtgttgctc	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56320642C>T	ENST00000589093.1	-	3	1427	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000443188.1_Missense_Mutation_p.R445H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	445	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAACTTGTAACGGTCTTTATG	0.468																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(1333-1335)cGt>cAt		NLR family, pyrin domain containing 11							63	63	63					19																	56320642		2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320642C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1334G>A	19.37:g.56320642C>T	ENSP00000466285:p.Arg445His					NLRP11_ENST00000589093.1_Missense_Mutation_p.R445H|NLRP11_ENST00000592953.1_Missense_Mutation_p.R346H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R445H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R445H	p.R445H	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2044	-		Colorectal(82;0.0002)	445			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1334G>A	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	1.474	-0.559011	0.03967	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74209	-0.82;-0.75	2.2	-3.03	0.05429	.	.	.	.	.	T	0.42177	0.1191	N	0.03608	-0.345	0.09310	N	1	B;B	0.27997	0.125;0.197	B;B	0.26864	0.019;0.074	T	0.30880	-0.9963	9	0.15066	T	0.55	.	4.319	0.11007	0.0:0.4651:0.2116:0.3233	.	445;445	P59045;P59045-2	NAL11_HUMAN;.	H	445	ENSP00000409898:R445H;ENSP00000353251:R445H	ENSP00000353251:R445H	R	-	2	0	NLRP11	61012454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.077000	0.00082	-0.957000	0.03627	-0.302000	0.09304	CGT		0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		65	264	0	0	0	1	0	65	264					T	56320642	C	T	56320642	3	4	79	1	0	0	0	0	1	0	0	0	10515	536	19	1	1799	1	NLRP11	19	56320642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19921	56320642	2808341	19771	30088											
NLRP13	126204	broad.mit.edu	37	chr19	56407480	56407480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagttgtcagattgcatttcGccaacctaggggcgggtggg	15	9	1	1	rs201165184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56407480G>A	ENST00000342929.3	-	11	2962	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V	NLRP13_ENST00000588751.1_Missense_Mutation_p.A988V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	988							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGCATTTCGCCAACCTAGG	0.458																																						ENST00000588751.1																			0				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						c.(2962-2964)gCg>gTg		NLR family, pyrin domain containing 13							81	80	80					19																	56407480		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56407480G>A	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.2963C>T	19.37:g.56407480G>A	ENSP00000343891:p.Ala988Val					NLRP13_ENST00000342929.3_Missense_Mutation_p.A988V	p.A988V			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	11	2987	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	988					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2963C>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457029	0.12283	.	.	ENSG00000173572	ENST00000342929	T	0.53857	0.6	3.0	-2.83	0.05769	.	.	.	.	.	T	0.25044	0.0608	N	0.05574	-0.02	0.09310	N	1	P	0.39748	0.686	B	0.34138	0.176	T	0.18745	-1.0327	9	0.15066	T	0.55	.	11.3765	0.49730	0.0:0.0:0.7324:0.2676	.	988	Q86W25	NAL13_HUMAN	V	988	ENSP00000343891:A988V	ENSP00000343891:A988V	A	-	2	0	NLRP13	61099292	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.576000	0.05854	-0.373000	0.07979	-0.467000	0.05162	GCG		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		105	359	0	0	0	1	0	105	359					A	56407480	G	A	56407480	3	1	79	1	0	0	0	0	1	0	0	0	10517	1087	38	1	170	1	NLRP13	19	56407480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86838	56407480	2721503	19772	30089											
NLRP13	126204	broad.mit.edu	37	chr19	56423641	56423641	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattgaactcgtagagagaAtcaatgaaaggcacttccag	9	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423641A>G	ENST00000342929.3	-	5	1541	c.1542T>C	c.(1540-1542)gaT>gaC	p.D514D	NLRP13_ENST00000588751.1_Silent_p.D514D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	514	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGTAGAGAGAATCAATGAAAG	0.468																																						ENST00000588751.1																			0				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						c.(1540-1542)gaT>gaC		NLR family, pyrin domain containing 13							60	61	60					19																	56423641		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423641A>G	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.1542T>C	19.37:g.56423641A>G						NLRP13_ENST00000342929.3_Silent_p.D514D	p.D514D			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1566	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	514			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1542T>C	CCDS33119.1																																																																																				0.468	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		11	352	0	0	0	1	0	11	352					G	56423641	A	G	56423641	2	3	79	1	0	0	0	0	0	0	0	1	10517	98	4	4		4	NLRP13	19	56423641	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16161	56423641	2705342	19773	30090											
NLRP13	126204	broad.mit.edu	37	chr19	56423953	56423953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttcgttttttcttagctgCtgcaggattttctcaacttc	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423953C>T	ENST00000342929.3	-	5	1229	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q	NLRP13_ENST00000588751.1_Silent_p.Q410Q	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	410	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTTAGCTGCTGCAGGATTT	0.458																																						ENST00000588751.1																			0				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						c.(1228-1230)caG>caA		NLR family, pyrin domain containing 13							84	89	87					19																	56423953		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56423953C>T	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.1230G>A	19.37:g.56423953C>T						NLRP13_ENST00000342929.3_Silent_p.Q410Q	p.Q410Q			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	1254	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	410			NACHT.		Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.1230G>A	CCDS33119.1																																																																																				0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		83	323	0	0	0	1	0	83	323					T	56423953	C	T	56423953	2	4	79	1	0	0	0	0	0	0	0	1	10517	796	28	2		2	NLRP13	19	56423953	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	312	56423953	2705030	19774	30091											
NLRP8	126205	broad.mit.edu	37	chr19	56466053	56466053	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	caagaccgtggccatacaggGagctcctgggatcggaaaaa	13	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466053G>T	ENST00000291971.3	+	3	700	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	210	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.G210E(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCATACAGGGAGCTCCTGGG	0.522																																						ENST00000291971.3																			1	Substitution - Missense(1)	p.G210E(1)	skin(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(628-630)gGa>gTa		NLR family, pyrin domain containing 8							87	73	78					19																	56466053		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466053G>T	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.629G>T	19.37:g.56466053G>T	ENSP00000291971:p.Gly210Val					NLRP8_ENST00000590542.1_Missense_Mutation_p.G210V	p.G210V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	700	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	210			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.629G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792438	0.31685	.	.	ENSG00000179709	ENST00000291971	D	0.88896	-2.44	2.04	0.942	0.19525	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.93621	0.7963	M	0.87900	2.915	0.09310	N	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84005	0.0345	9	0.87932	D	0	.	6.4363	0.21825	0.0:0.308:0.692:0.0	.	210;210	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	210	ENSP00000291971:G210V	ENSP00000291971:G210V	G	+	2	0	NLRP8	61157865	1.000000	0.71417	0.000000	0.03702	0.004000	0.04260	5.793000	0.69060	0.400000	0.25396	0.514000	0.50259	GGA		0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		64	345	1	0	2.73361e-28	1	3.17826e-28	64	345					T	56466053	G	T	56466053	3	4	79	1	0	0	0	0	1	0	0	0	10525	1174	41	3	639	3	NLRP8	19	56466053	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42100	56466053	2662930	19775	30092											
NLRP8	126205	broad.mit.edu	37	chr19	56466774	56466774	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatccaccaagcacaActggaaggtctgtgtcactt	9	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466774A>C	ENST00000291971.3	+	3	1421	c.1350A>C	c.(1348-1350)caA>caC	p.Q450H	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	450	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)		ACCAAGCACAACTGGAAGGTC	0.498																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1348-1350)caA>caC		NLR family, pyrin domain containing 8							96	94	95					19																	56466774		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466774A>C	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.1350A>C	19.37:g.56466774A>C	ENSP00000291971:p.Gln450His					NLRP8_ENST00000590542.1_Missense_Mutation_p.Q450H	p.Q450H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1421	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	450			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1350A>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	A	5.959	0.360931	0.11296	.	.	ENSG00000179709	ENST00000291971	D	0.83992	-1.79	1.78	-3.56	0.04626	.	.	.	.	.	T	0.77405	0.4125	M	0.62016	1.91	0.09310	N	1	P;B	0.34546	0.456;0.41	B;B	0.39339	0.297;0.275	T	0.65323	-0.6196	9	0.39692	T	0.17	.	3.9769	0.09478	0.2802:0.4107:0.3091:0.0	.	450;450	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	450	ENSP00000291971:Q450H	ENSP00000291971:Q450H	Q	+	3	2	NLRP8	61158586	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-2.334000	0.01107	-1.427000	0.01992	0.421000	0.28195	CAA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		93	446	0	0	0	1	0	93	446					C	56466774	A	C	56466774	3	2	79	1	0	0	0	0	1	0	0	0	10525	40	2	4	1360	4	NLRP8	19	56466774	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	721	56466774	2662209	19776	30093											
NLRP8	126205	broad.mit.edu	37	chr19	56477586	56477586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccctctccagcctaaggCgtgtgaatagcaccatgttg	9	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56477586C>T	ENST00000291971.3	+	5	2292	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	741					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)		CAGCCTAAGGCGTGTGAATAG	0.517																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2221-2223)Cgt>Tgt		NLR family, pyrin domain containing 8							168	147	154					19																	56477586		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56477586C>T	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.2221C>T	19.37:g.56477586C>T	ENSP00000291971:p.Arg741Cys					NLRP8_ENST00000590542.1_Missense_Mutation_p.R741C	p.R741C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	5	2292	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	741					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2221C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005020	0.07773	.	.	ENSG00000179709	ENST00000291971	T	0.74526	-0.85	1.82	0.719	0.18208	.	.	.	.	.	T	0.62901	0.2466	L	0.46741	1.465	0.09310	N	1	B;B	0.13145	0.007;0.003	B;B	0.15484	0.013;0.001	T	0.51132	-0.8744	9	0.37606	T	0.19	.	5.4535	0.16578	0.3284:0.6716:0.0:0.0	.	741;741	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	741	ENSP00000291971:R741C	ENSP00000291971:R741C	R	+	1	0	NLRP8	61169398	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.131000	0.10482	0.296000	0.22592	0.557000	0.71058	CGT		0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		97	482	0	0	0	1	0	97	482					T	56477586	C	T	56477586	3	4	79	1	0	0	0	0	1	0	0	0	10525	768	27	1	2239	1	NLRP8	19	56477586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10812	56477586	2651397	19777	30094											
NLRP5	126206	broad.mit.edu	37	chr19	56539009	56539009	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcgaccagtgccaggtGcccgccgtgggctctctcat	12	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56539009G>A	ENST00000390649.3	+	7	1410	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	470	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTGCCAGGTGCCCGCCGTGG	0.632																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1408-1410)gtG>gtA		NLR family, pyrin domain containing 5							31	36	34					19																	56539009		2121	4236	6357	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539009G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1410G>A	19.37:g.56539009G>A							p.V470V	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1410	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	470			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1410G>A	CCDS12938.1																																																																																				0.632	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		35	198	0	0	0	1	0	35	198					A	56539009	G	A	56539009	2	1	79	1	0	0	0	0	0	0	0	1	10522	1306	46	2		2	NLRP5	19	56539009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61423	56539009	2589974	19778	30095											
ZNF787	126208	broad.mit.edu	37	chr19	56600023	56600023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacgaagggcttgaggccgCtgtgcgagcgccggtgcttg	17	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600023C>T	ENST00000270459.3	-	3	636	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTGAGGCCGCTGTGCGAGCG	0.716																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(517-519)aGc>aAc		zinc finger protein 787							8	9	9					19																	56600023		2167	4267	6434	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600023C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.518G>A	19.37:g.56600023C>T	ENSP00000270459:p.Ser173Asn						p.S173N	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	636	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	173					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.518G>A	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	c	29.8	5.037559	0.93630	.	.	ENSG00000142409	ENST00000270459	T	0.19394	2.15	3.75	2.66	0.31614	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16811	0.0404	L	0.39245	1.2	0.80722	D	1	P	0.49447	0.924	B	0.40134	0.32	T	0.03240	-1.1057	9	0.72032	D	0.01	-27.8195	9.9398	0.41574	0.0:0.5935:0.4065:0.0	.	173	Q6DD87	ZN787_HUMAN	N	173	ENSP00000270459:S173N	ENSP00000270459:S173N	S	-	2	0	ZNF787	61291835	0.001000	0.12720	0.999000	0.59377	0.958000	0.62258	-0.311000	0.08124	0.865000	0.35603	0.556000	0.70494	AGC		0.716	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		9	53	0	0	0	1	0	9	53					T	56600023	C	T	56600023	3	4	79	1	0	0	0	0	1	0	0	0	18212	797	28	2	637	2	ZNF787	19	56600023	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61014	56600023	2528960	19779	30096											
ZNF787	126208	broad.mit.edu	37	chr19	56600160	56600160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctgaagcgcttgccGcactccaagcaggcgtaggg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600160G>A	ENST00000270459.3	-	3	499	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGCGCTTGCCGCACTCCAAGC	0.672																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(379-381)tgC>tgT		zinc finger protein 787							24	25	24					19																	56600160		2203	4300	6503	SO:0001819	synonymous_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56600160G>A	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.381C>T	19.37:g.56600160G>A							p.C127C	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	3	499	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	127					O00455	Silent	SNP	ENST00000270459.3	37	c.381C>T	CCDS42634.1																																																																																				0.672	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		27	118	0	0	0	1	0	27	118					A	56600160	G	A	56600160	2	1	79	1	0	0	0	0	0	0	0	1	18212	1079	38	1		1	ZNF787	19	56600160	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	56600160	2528823	19780	30097											
ZNF787	126208	broad.mit.edu	37	chr19	56614517	56614517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggctgctcacctgggttctCgtgactggccatctgctggt	13	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614517C>T	ENST00000270459.3	-	2	188	c.70G>A	c.(70-72)Gag>Aag	p.E24K	Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCTGGGTTCTCGTGACTGGCC	0.642																																						ENST00000270459.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						c.(70-72)Gag>Aag		zinc finger protein 787							44	53	50					19																	56614517		1997	4167	6164	SO:0001583	missense	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56614517C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"Zinc fingers, C2H2-type"	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.70G>A	19.37:g.56614517C>T	ENSP00000270459:p.Glu24Lys					ZNF787_ENST00000587279.1_Missense_Mutation_p.E24K	p.E24K	NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	2	188	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	24					O00455	Missense_Mutation	SNP	ENST00000270459.3	37	c.70G>A	CCDS42634.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853109	0.51270	.	.	ENSG00000142409	ENST00000270459	T	0.06068	3.35	3.15	3.15	0.36227	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.23936	N	0.99642	D	0.56521	0.976	P	0.50825	0.651	T	0.39375	-0.9617	9	0.54805	T	0.06	-32.3686	10.0497	0.42208	0.0:1.0:0.0:0.0	.	24	Q6DD87	ZN787_HUMAN	K	24	ENSP00000270459:E24K	ENSP00000270459:E24K	E	-	1	0	ZNF787	61306329	0.836000	0.29430	0.993000	0.49108	0.339000	0.28857	1.304000	0.33482	2.086000	0.62901	0.462000	0.41574	GAG		0.642	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836		46	199	0	0	0	1	0	46	199					T	56614517	C	T	56614517	3	4	79	1	0	0	0	0	1	0	0	0	18212	893	31	1	1089	1	ZNF787	19	56614517	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14357	56614517	2514466	19781	30098											
ZNF444	55311	broad.mit.edu	37	chr19	56658505	56658505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgcgctgcccgccgaCacgcaggcctgggtgtgcag	16	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56658505C>T	ENST00000337080.3	+	3	592	c.225C>T	c.(223-225)gaC>gaT	p.D75D	ZNF444_ENST00000592949.1_Silent_p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCCCGCCGACACGCAGGCCT	0.716																																						ENST00000337080.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(223-225)gaC>gaT		zinc finger protein 444							8	9	9					19																	56658505		2157	4220	6377	SO:0001819	synonymous_variant	55311				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56658505C>T	AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"-", "Zinc fingers, C2H2-type"	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.225C>T	19.37:g.56658505C>T						ZNF444_ENST00000592949.1_Silent_p.D75D	p.D75D	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN		GBM - Glioblastoma multiforme(193;0.0531)	3	592	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	75			SCAN box.		Q8TEQ9|Q8WU35|Q9NUU1	Silent	SNP	ENST00000337080.3	37	c.225C>T	CCDS12939.1																																																																																				0.716	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457503.1	NM_018337		6	59	0	0	0	1	0	6	59					T	56658505	C	T	56658505	2	4	79	1	0	0	0	0	0	0	0	1	17970	477	17	2		2	ZNF444	19	56658505	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43988	56658505	2470478	19782	30099											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704380	56704380	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgacccagggctgttgcaGggtcctccctgaccccatga	11	15	1	3	rs372790304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56704380G>T	ENST00000586855.2	-	2	355	c.42C>A	c.(40-42)ccC>ccA	p.P14P	ZSCAN5B_ENST00000358992.3_Silent_p.P14P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	14					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTGTTGCAGGGTCCTCCCT	0.507																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(40-42)ccC>ccA		zinc finger and SCAN domain containing 5B							49	42	44					19																	56704380		692	1591	2283	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704380G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.42C>A	19.37:g.56704380G>T						ZSCAN5B_ENST00000358992.3_Silent_p.P14P	p.P14P			A6NJL1	ZSA5B_HUMAN			2	355	-			14						Silent	SNP	ENST00000586855.2	37	c.42C>A	CCDS46203.1																																																																																				0.507	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		17	71	1	0	4.7546e-09	1	4.99022e-09	17	71					T	56704380	G	T	56704380	2	4	79	1	0	0	0	0	0	0	0	1	18292	987	35	3		3	ZSCAN5B	19	56704380	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45875	56704380	2424603	19783	30100											
ZNF583	147949	broad.mit.edu	37	chr19	56935069	56935069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatcagagaattcatacaGgagagaaaccttatgtgtgt	10	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935069G>A	ENST00000333201.9	+	5	1252	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	348					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AATTCATACAGGAGAGAAACC	0.413																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1042-1044)Gga>Aga		zinc finger protein 583							116	123	121					19																	56935069		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935069G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1042G>A	19.37:g.56935069G>A	ENSP00000388502:p.Gly348Arg					ZNF583_ENST00000291598.7_Missense_Mutation_p.G348R|ZNF583_ENST00000585612.1_3'UTR	p.G348R	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1252	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	348					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1042G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324461	0.81580	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.26223	1.75;1.75	4.33	4.33	0.51752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000502	T	0.48892	0.1525	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.45366	-0.9266	9	.	.	.	.	16.1017	0.81175	0.0:0.0:1.0:0.0	.	348	Q96ND8	ZN583_HUMAN	R	348	ENSP00000291598:G348R;ENSP00000388502:G348R	.	G	+	1	0	ZNF583	61626881	1.000000	0.71417	0.538000	0.28064	0.994000	0.84299	4.412000	0.59787	2.415000	0.81967	0.462000	0.41574	GGA		0.413	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		69	312	0	0	0	1	0	69	312					A	56935069	G	A	56935069	3	1	79	1	0	0	0	0	1	0	0	0	18068	1001	35	2	1056	2	ZNF583	19	56935069	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230689	56935069	2193914	19784	30101											
ZNF583	147949	broad.mit.edu	37	chr19	56935091	56935091	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaccttatgtgtgtaAtgtgtgtgggaaagccttta	12	4	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935091A>C	ENST00000333201.9	+	5	1274	c.1064A>C	c.(1063-1065)aAt>aCt	p.N355T	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TATGTGTGTAATGTGTGTGGG	0.408																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1063-1065)aAt>aCt		zinc finger protein 583							124	128	127					19																	56935091		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935091A>C	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1064A>C	19.37:g.56935091A>C	ENSP00000388502:p.Asn355Thr					ZNF583_ENST00000291598.7_Missense_Mutation_p.N355T|ZNF583_ENST00000585612.1_3'UTR	p.N355T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1274	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	355					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1064A>C	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	9.308	1.054718	0.19907	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07444	3.19;3.19	4.33	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.462253	0.18306	N	0.145252	T	0.05090	0.0136	N	0.05177	-0.1	0.09310	N	1	B	0.31026	0.304	B	0.42959	0.403	T	0.44892	-0.9298	9	.	.	.	.	4.4064	0.11411	0.6477:0.1809:0.1715:0.0	.	355	Q96ND8	ZN583_HUMAN	T	355	ENSP00000291598:N355T;ENSP00000388502:N355T	.	N	+	2	0	ZNF583	61626903	0.000000	0.05858	0.002000	0.10522	0.946000	0.59487	-2.053000	0.01400	0.784000	0.33661	0.379000	0.24179	AAT		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		80	319	0	0	0	1	0	80	319					C	56935091	A	C	56935091	3	2	79	1	0	0	0	0	1	0	0	0	18068	101	4	4	1078	4	ZNF583	19	56935091	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	22	56935091	2193892	19785	30102											
ZNF583	147949	broad.mit.edu	37	chr19	56935280	56935280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatgtaggaaagccttcaGccaaattgcataccttgatc	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935280G>A	ENST00000333201.9	+	5	1463	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AAAGCCTTCAGCCAAATTGCA	0.408																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1252-1254)aGc>aAc		zinc finger protein 583							61	63	62					19																	56935280		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935280G>A	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1253G>A	19.37:g.56935280G>A	ENSP00000388502:p.Ser418Asn					ZNF583_ENST00000291598.7_Missense_Mutation_p.S418N|ZNF583_ENST00000585612.1_Intron	p.S418N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1463	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	418					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1253G>A	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956489	0.53293	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07567	3.18;3.18	4.57	-0.998	0.10212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.13670	0.0331	L	0.48218	1.51	0.09310	N	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.12400	-1.0549	9	.	.	.	.	1.7987	0.03067	0.3461:0.1244:0.4027:0.1268	.	418	Q96ND8	ZN583_HUMAN	N	418	ENSP00000291598:S418N;ENSP00000388502:S418N	.	S	+	2	0	ZNF583	61627092	0.000000	0.05858	0.130000	0.21974	0.997000	0.91878	-4.173000	0.00280	-0.120000	0.11809	0.563000	0.77884	AGC		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		42	264	0	0	0	1	0	42	264					A	56935280	G	A	56935280	3	1	79	1	0	0	0	0	1	0	0	0	18068	971	34	2	1267	2	ZNF583	19	56935280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189	56935280	2193703	19786	30103											
ZNF583	147949	broad.mit.edu	37	chr19	56935478	56935478	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggccttgctcaacatcagaGaattcatactggagagaaac	9	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935478G>T	ENST00000333201.9	+	5	1661	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATCAGAGAATTCATACT	0.383																																						ENST00000333201.9																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1450-1452)aGa>aTa		zinc finger protein 583							90	94	92					19																	56935478		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935478G>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1451G>T	19.37:g.56935478G>T	ENSP00000388502:p.Arg484Ile					ZNF583_ENST00000291598.7_Missense_Mutation_p.R484I|ZNF583_ENST00000585612.1_Intron	p.R484I	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1661	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	484					O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1451G>T	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723444	0.68959	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.24908	1.83;1.83	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000332	T	0.51719	0.1691	M	0.78223	2.4	0.54753	D	0.999981	D	0.71674	0.998	D	0.71414	0.973	T	0.53436	-0.8439	9	.	.	.	.	16.7887	0.85582	0.0:0.0:1.0:0.0	.	484	Q96ND8	ZN583_HUMAN	I	484	ENSP00000291598:R484I;ENSP00000388502:R484I	.	R	+	2	0	ZNF583	61627290	0.000000	0.05858	0.008000	0.14137	0.993000	0.82548	-0.421000	0.07053	2.571000	0.86741	0.655000	0.94253	AGA		0.383	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		88	393	1	0	2.46799e-47	1	3.03728e-47	88	393					T	56935478	G	T	56935478	3	4	79	1	0	0	0	0	1	0	0	0	18068	942	33	3	1465	3	ZNF583	19	56935478	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198	56935478	2193505	19787	30104											
ZNF667	63934	broad.mit.edu	37	chr19	56973726	56973726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggatttggatttccccCgtgcagaaggcatcctttcc	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56973726C>T	ENST00000504904.3	-	4	733	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	ZNF667_ENST00000591790.1_Missense_Mutation_p.R5Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	5					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)		GGATTTCCCCCGTGCAGAAGG	0.537																																						ENST00000591790.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(13-15)cGg>cAg		zinc finger protein 667							239	196	210					19																	56973726		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56973726C>T		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.14G>A	19.37:g.56973726C>T	ENSP00000439402:p.Arg5Gln					ZNF667_ENST00000292069.6_Missense_Mutation_p.R5Q|ZNF667_ENST00000342634.3_Missense_Mutation_p.R98Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.R5Q	p.R5Q			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	2	1442	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	5					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.14G>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020736	0.54576	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.05447	3.44;3.49;3.49	4.21	3.17	0.36434	.	0.291293	0.18795	N	0.130960	T	0.03053	0.0090	N	0.12746	0.255	0.09310	N	1	B	0.31503	0.326	B	0.16289	0.015	T	0.45440	-0.9261	10	0.26408	T	0.33	-3.0919	8.5568	0.33487	0.0:0.8876:0.0:0.1124	.	5	Q5HYK9	ZN667_HUMAN	Q	98;5;5	ENSP00000344699:R98Q;ENSP00000439402:R5Q;ENSP00000292069:R5Q	ENSP00000292069:R5Q	R	-	2	0	ZNF667	61665538	0.010000	0.17322	0.005000	0.12908	0.116000	0.19942	0.503000	0.22610	1.087000	0.41251	0.467000	0.42956	CGG		0.537	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		105	640	0	0	0	1	0	105	640					T	56973726	C	T	56973726	3	4	79	1	0	0	0	0	1	0	0	0	18127	652	23	1	1834	1	ZNF667	19	56973726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38248	56973726	2155257	19788	30105											
ZNF471	57573	broad.mit.edu	37	chr19	57036219	57036219	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acacatactggagagaaactCtttgaatgtaaagaatgtag	9	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036219C>A	ENST00000308031.5	+	5	916	c.783C>A	c.(781-783)ctC>ctA	p.L261L	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.S121Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		GAGAGAAACTCTTTGAATGTA	0.368																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000591537.1																			0				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						c.(361-363)tCt>tAt		zinc finger protein 471							98	109	106					19																	57036219		2203	4300	6503	SO:0001819	synonymous_variant	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036219C>A	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.783C>A	19.37:g.57036219C>A						ZNF471_ENST00000308031.5_Silent_p.L261L|ZNF471_ENST00000593197.1_Intron	p.S121Y			Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	488	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	129					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.362C>A	CCDS12945.1																																																																																				0.368	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		46	586	1	0	6.68952e-21	1	7.51162e-21	46	586					A	57036219	C	A	57036219	2	1	79	1	0	0	0	0	0	0	0	1	17983	900	32	3		3	ZNF471	19	57036219	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62493	57036219	2092764	19789	30106											
ZNF471	57573	broad.mit.edu	37	chr19	57036570	57036570	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagccttttaattgcatTgattgtgggaaagccttcag	11	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036570T>C	ENST00000308031.5	+	5	1267	c.1134T>C	c.(1132-1134)atT>atC	p.I378I	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.L238S	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		TTAATTGCATTGATTGTGGGA	0.393																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000591537.1																			0				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						c.(712-714)tTg>tCg		zinc finger protein 471							88	93	91					19																	57036570		2203	4300	6503	SO:0001819	synonymous_variant	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036570T>C	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.1134T>C	19.37:g.57036570T>C						ZNF471_ENST00000308031.5_Silent_p.I378I|ZNF471_ENST00000593197.1_Intron	p.L238S			Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	839	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	0					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.713T>C	CCDS12945.1																																																																																				0.393	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		114	506	0	0	0	1	0	114	506					C	57036570	T	C	57036570	2	2	79	1	0	0	0	0	0	0	0	1	17983	1800	63	4		4	ZNF471	19	57036570	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	351	57036570	2092413	19790	30107											
ZFP28	140612	broad.mit.edu	37	chr19	57060343	57060343	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tcagacttgaaggctgtgtgGaagatcaaggagttacctct	12	7	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57060343G>T	ENST00000301318.3	+	5	611	c.540G>T	c.(538-540)tgG>tgT	p.W180C	ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		AGGCTGTGTGGAAGATCAAGG	0.378																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(538-540)tgG>tgT		ZFP28 zinc finger protein							62	58	59					19																	57060343		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57060343G>T		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.540G>T	19.37:g.57060343G>T	ENSP00000301318:p.Trp180Cys					AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.W180C	p.W180C	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	5	611	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	180					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.540G>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.161	-1.080813	0.01888	.	.	ENSG00000196867	ENST00000301318	T	0.04970	3.52	4.34	-0.623	0.11556	.	2.748390	0.01538	N	0.019092	T	0.04634	0.0126	N	0.05230	-0.09	0.09310	N	1	B;P	0.47762	0.0;0.9	B;P	0.45913	0.0;0.497	T	0.15150	-1.0447	10	0.37606	T	0.19	.	4.3467	0.11136	0.251:0.0:0.5953:0.1537	.	180;180	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	C	180	ENSP00000301318:W180C	ENSP00000301318:W180C	W	+	3	0	ZFP28	61752155	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	-0.339000	0.07832	-0.073000	0.12842	0.655000	0.94253	TGG		0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		26	145	1	0	8.24728e-16	1	9.03206e-16	26	145					T	57060343	G	T	57060343	3	4	79	1	0	0	0	0	1	0	0	0	17695	1183	41	3	558	3	ZFP28	19	57060343	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23773	57060343	2068640	19791	30108											
ZNF470	388566	broad.mit.edu	37	chr19	57088168	57088168	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccggcaatcataatggaaaGacttaaaagctatgaccttg	8	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088168G>A	ENST00000330619.8	+	6	1057	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(370-372)aGa>aAa		zinc finger protein 470							65	68	67					19																	57088168		2202	4298	6500	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088168G>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.371G>A	19.37:g.57088168G>A	ENSP00000333223:p.Arg124Lys					ZNF470_ENST00000391709.3_Missense_Mutation_p.R124K|ZNF470_ENST00000601902.1_Intron	p.R124K	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1057	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	124					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.371G>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	2.440	-0.328844	0.05314	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.06142	3.34;3.34	4.03	1.74	0.24563	.	.	.	.	.	T	0.07908	0.0198	L	0.31752	0.955	0.09310	N	1	P	0.44690	0.841	P	0.54210	0.745	T	0.29731	-1.0002	9	0.11794	T	0.64	.	6.0467	0.19764	0.2623:0.0:0.7377:0.0	.	124	Q6ECI4	ZN470_HUMAN	K	124	ENSP00000375590:R124K;ENSP00000333223:R124K	ENSP00000333223:R124K	R	+	2	0	ZNF470	61779980	0.003000	0.15002	0.288000	0.24862	0.032000	0.12392	0.351000	0.20096	0.844000	0.35094	0.585000	0.79938	AGA		0.363	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		83	320	0	0	0	1	0	83	320					A	57088168	G	A	57088168	3	1	79	1	0	0	0	0	1	0	0	0	17982	942	33	2	385	2	ZNF470	19	57088168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27825	57088168	2040815	19792	30109											
ZNF470	388566	broad.mit.edu	37	chr19	57088924	57088924	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtattgactgtgggaaagCtttcaggcagaatgcttctc	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088924C>T	ENST00000330619.8	+	6	1813	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTGGGAAAGCTTTCAGGCAG	0.423																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1126-1128)gCt>gTt		zinc finger protein 470							97	90	93					19																	57088924		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088924C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1127C>T	19.37:g.57088924C>T	ENSP00000333223:p.Ala376Val					ZNF470_ENST00000391709.3_Missense_Mutation_p.A376V|ZNF470_ENST00000601902.1_Intron	p.A376V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1813	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	376					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1127C>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	-	7.775	0.708314	0.15239	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.19105	2.17;2.17	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	N	0.10733	0.035	0.09310	N	1	P	0.43885	0.82	B	0.44224	0.444	T	0.05920	-1.0856	9	0.41790	T	0.15	.	5.8632	0.18760	0.0:0.6971:0.1981:0.1047	.	376	Q6ECI4	ZN470_HUMAN	V	376	ENSP00000375590:A376V;ENSP00000333223:A376V	ENSP00000333223:A376V	A	+	2	0	ZNF470	61780736	0.000000	0.05858	0.913000	0.36048	0.044000	0.14063	0.405000	0.21015	2.177000	0.69029	0.603000	0.83216	GCT		0.423	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		26	313	0	0	0	1	0	26	313					T	57088924	C	T	57088924	3	4	79	1	0	0	0	0	1	0	0	0	17982	797	28	2	1141	2	ZNF470	19	57088924	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	756	57088924	2040059	19793	30110											
ZNF470	388566	broad.mit.edu	37	chr19	57089370	57089370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagccagaatgcacacctcGcgcaacatcagaaaatacac	6	14	2	2	rs140617949	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089370G>A	ENST00000330619.8	+	6	2259	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGCACACCTCGCGCAACATCA	0.458													G|||	11	0.00219649	0.0	0.0	5008	,	,		21953	0.0		0.002	False		,,,				2504	0.0092					ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1573-1575)Gcg>Acg		zinc finger protein 470		G	THR/ALA	2,4404	6.2+/-15.9	0,2,2201	68	67	67		1573	2.1	0.5	19	dbSNP_134	67	10,8590	7.1+/-27.0	0,10,4290	yes	missense	ZNF470	NM_001001668.3	58	0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923	benign	525/718	57089370	12,12994	2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089370G>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1573G>A	19.37:g.57089370G>A	ENSP00000333223:p.Ala525Thr					ZNF470_ENST00000391709.3_Missense_Mutation_p.A525T|ZNF470_ENST00000601902.1_Intron	p.A525T	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2259	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	525					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1573G>A	CCDS33122.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.273	-0.366479	0.05069	4.54E-4	0.001163	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.08008	3.14;3.14	4.37	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.27351	0.176	B	0.15052	0.012	T	0.40961	-0.9535	9	0.02654	T	1	.	5.5542	0.17107	0.2087:0.1704:0.6209:0.0	.	525	Q6ECI4	ZN470_HUMAN	T	525	ENSP00000375590:A525T;ENSP00000333223:A525T	ENSP00000333223:A525T	A	+	1	0	ZNF470	61781182	0.000000	0.05858	0.481000	0.27354	0.812000	0.45895	0.041000	0.13927	1.066000	0.40716	-0.145000	0.13849	GCG		0.458	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		61	276	0	0	0	1	0	61	276					A	57089370	G	A	57089370	3	1	79	1	0	0	0	0	1	0	0	0	17982	1087	38	1	1587	1	ZNF470	19	57089370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	446	57089370	2039613	19794	30111											
ZNF470	388566	broad.mit.edu	37	chr19	57089583	57089583	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaaaagaccgtatgaatgtCttgaatgtgggaaggcattc	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089583C>A	ENST00000330619.8	+	6	2472	c.1786C>A	c.(1786-1788)Ctt>Att	p.L596I	ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GTATGAATGTCTTGAATGTGG	0.433																																						ENST00000330619.8																			0				endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(1786-1788)Ctt>Att		zinc finger protein 470							96	91	92					19																	57089583		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089583C>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1786C>A	19.37:g.57089583C>A	ENSP00000333223:p.Leu596Ile					ZNF470_ENST00000391709.3_Missense_Mutation_p.L596I|ZNF470_ENST00000601902.1_Intron	p.L596I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2472	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	596					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1786C>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799205	0.31869	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07688	3.17;3.17	4.38	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.38838	1.175	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.32561	-0.9902	9	0.54805	T	0.06	.	8.1605	0.31196	0.1625:0.5364:0.3011:0.0	.	596	Q6ECI4	ZN470_HUMAN	I	596	ENSP00000375590:L596I;ENSP00000333223:L596I	ENSP00000333223:L596I	L	+	1	0	ZNF470	61781395	0.000000	0.05858	0.655000	0.29622	0.996000	0.88848	-1.176000	0.03099	0.434000	0.26340	0.655000	0.94253	CTT		0.433	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		14	394	1	0	2.31682e-05	1	2.36778e-05	14	394					A	57089583	C	A	57089583	3	1	79	1	0	0	0	0	1	0	0	0	17982	913	32	3	1800	3	ZNF470	19	57089583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	213	57089583	2039400	19795	30112											
ZNF71	58491	broad.mit.edu	37	chr19	57133136	57133136	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagaaaagccgtttgagtgtGacacctgtgggaagcacttc	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133136G>A	ENST00000328070.6	+	3	715	c.481G>A	c.(481-483)Gac>Aac	p.D161N		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	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)|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)		GTTTGAGTGTGACACCTGTGG	0.597																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(481-483)Gac>Aac		zinc finger protein 71							53	54	54					19																	57133136		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133136G>A	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.481G>A	19.37:g.57133136G>A	ENSP00000328245:p.Asp161Asn						p.D161N	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	715	+			161					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.481G>A	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.005750	0.00426	.	.	ENSG00000197951	ENST00000328070	T	0.07327	3.2	3.7	-5.9	0.02275	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.16307	0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46911	-0.9157	9	0.02654	T	1	.	7.5589	0.27839	0.6047:0.2386:0.1567:0.0	.	161	Q9NQZ8	ZNF71_HUMAN	N	161	ENSP00000328245:D161N	ENSP00000328245:D161N	D	+	1	0	ZNF71	61824948	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.715000	0.00385	-1.111000	0.02988	-0.254000	0.11334	GAC		0.597	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		76	269	0	0	0	1	0	76	269					A	57133136	G	A	57133136	3	1	79	1	0	0	0	0	1	0	0	0	18167	1290	45	2	483	2	ZNF71	19	57133136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43553	57133136	1995847	19796	30113											
ZNF71	58491	broad.mit.edu	37	chr19	57133840	57133840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcacttcacggggcgctcGtccctcatcgtgcaccagat	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133840G>A	ENST00000328070.6	+	3	1419	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		CGGGGCGCTCGTCCCTCATCG	0.632																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1183-1185)tcG>tcA		zinc finger protein 71							89	72	78					19																	57133840		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133840G>A	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.1185G>A	19.37:g.57133840G>A							p.S395S	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1419	+			395					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1185G>A	CCDS12947.1																																																																																				0.632	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		70	325	0	0	0	1	0	70	325					A	57133840	G	A	57133840	2	1	79	1	0	0	0	0	0	0	0	1	18167	1132	40	1		1	ZNF71	19	57133840	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704	57133840	1995143	19797	30114											
ZNF71	58491	broad.mit.edu	37	chr19	57133900	57133900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgtgtgcggcgagtgCggcaaggccttcagccagag	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133900C>T	ENST00000328070.6	+	3	1479	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		GCGGCGAGTGCGGCAAGGCCT	0.632																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1243-1245)tgC>tgT		zinc finger protein 71							85	71	76					19																	57133900		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133900C>T	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.1245C>T	19.37:g.57133900C>T							p.C415C	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1479	+			415					Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.1245C>T	CCDS12947.1																																																																																				0.632	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		68	323	0	0	0	1	0	68	323					T	57133900	C	T	57133900	2	4	79	1	0	0	0	0	0	0	0	1	18167	776	27	1		1	ZNF71	19	57133900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	60	57133900	1995083	19798	30115											
ZNF71	58491	broad.mit.edu	37	chr19	57134102	57134102	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgcaacacgaacctgacgCgccacctgcggattcacacc	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57134102C>T	ENST00000328070.6	+	3	1681	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		GAACCTGACGCGCCACCTGCG	0.652																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1447-1449)Cgc>Tgc		zinc finger protein 71							42	45	44					19																	57134102		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57134102C>T	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.1447C>T	19.37:g.57134102C>T	ENSP00000328245:p.Arg483Cys						p.R483C	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1681	+			483					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.1447C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914312	0.52546	.	.	ENSG00000197951	ENST00000328070	T	0.31247	1.5	3.11	0.856	0.19019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	M	0.76433	2.335	0.09310	N	0.999995	B	0.29508	0.246	B	0.17433	0.018	T	0.21895	-1.0232	9	0.59425	D	0.04	.	10.2854	0.43564	0.4993:0.5006:0.0:0.0	.	483	Q9NQZ8	ZNF71_HUMAN	C	483	ENSP00000328245:R483C	ENSP00000328245:R483C	R	+	1	0	ZNF71	61825914	0.000000	0.05858	0.986000	0.45419	0.981000	0.71138	-1.191000	0.03055	0.313000	0.23062	0.561000	0.74099	CGC		0.652	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		56	326	0	0	0	1	0	56	326					T	57134102	C	T	57134102	3	4	79	1	0	0	0	0	1	0	0	0	18167	768	27	1	1449	1	ZNF71	19	57134102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202	57134102	1994881	19799	30116											
ZNF835	90485	broad.mit.edu	37	chr19	57175068	57175068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagctgggcaaaggcgtcccGaactgtctgcatgcgtcctc	13	13	1	0	rs376671798		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175068G>A	ENST00000537055.2	-	2	1730	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						AAGGCGTCCCGAACTGTCTGC	0.642																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1498-1500)tCg>tTg		zinc finger protein 835							119	131	127					19																	57175068		2200	4299	6499	SO:0001583	missense	90485							g.chr19:57175068G>A	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.1499C>T	19.37:g.57175068G>A	ENSP00000444747:p.Ser500Leu						p.S500L	NM_001005850.2	NP_001005850.2					2	1730	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1499C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.885100	0.17540	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07114	3.22	2.15	-4.29	0.03721	Zinc finger, C2H2 (1);	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39187	-0.9626	9	0.87932	D	0	.	11.1417	0.48406	0.0:0.6885:0.1825:0.129	.	522	Q9Y2P0	ZN835_HUMAN	L	522;500	ENSP00000444747:S500L	ENSP00000341756:S522L	S	-	2	0	ZNF835	61866880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-1.571000	0.01663	-0.311000	0.09066	TCG		0.642	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		206	887	0	0	0	1	0	206	887					A	57175068	G	A	57175068	3	1	79	1	0	0	0	0	1	0	0	0	18239	1059	37	1	116	1	ZNF835	19	57175068	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40966	57175068	1953915	19800	30117											
ZNF835	90485	broad.mit.edu	37	chr19	57175214	57175214	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttgctgaaggccttgccGcactcggggcaggtgtaggg	18	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175214G>A	ENST00000537055.2	-	2	1584	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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						AGGCCTTGCCGCACTCGGGGC	0.672																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1351-1353)tgC>tgT		zinc finger protein 835							57	63	61					19																	57175214		2201	4300	6501	SO:0001819	synonymous_variant	90485							g.chr19:57175214G>A	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.1353C>T	19.37:g.57175214G>A							p.C451C	NM_001005850.2	NP_001005850.2					2	1584	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1353C>T	CCDS56105.1																																																																																				0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		128	502	0	0	0	1	0	128	502					A	57175214	G	A	57175214	2	1	79	1	0	0	0	0	0	0	0	1	18239	1079	38	1		1	ZNF835	19	57175214	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	57175214	1953769	19801	30118											
ZNF835	90485	broad.mit.edu	37	chr19	57175556	57175556	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggccttggcgcactgGccgcacgcgtagggcttctc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175556G>A	ENST00000537055.2	-	2	1242	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCGCACTGGCCGCACGCGT	0.697																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1009-1011)ggC>ggT		zinc finger protein 835							20	19	20					19																	57175556		2202	4295	6497	SO:0001819	synonymous_variant	90485							g.chr19:57175556G>A	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.1011C>T	19.37:g.57175556G>A							p.G337G	NM_001005850.2	NP_001005850.2					2	1242	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.1011C>T	CCDS56105.1																																																																																				0.697	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		26	107	0	0	0	1	0	26	107					A	57175556	G	A	57175556	2	1	79	1	0	0	0	0	0	0	0	1	18239	1190	42	2		2	ZNF835	19	57175556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342	57175556	1953427	19802	30119											
ZNF835	90485	broad.mit.edu	37	chr19	57175789	57175789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagcgctgaggagaagcGgaaggccttggcgcacgcgg	19	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175789G>A	ENST00000537055.2	-	2	1009	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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						GAGGAGAAGCGGAAGGCCTTG	0.672																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(778-780)Cgc>Tgc		zinc finger protein 835							38	37	37					19																	57175789		2203	4300	6503	SO:0001583	missense	90485							g.chr19:57175789G>A	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.778C>T	19.37:g.57175789G>A	ENSP00000444747:p.Arg260Cys						p.R260C	NM_001005850.2	NP_001005850.2					2	1009	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.778C>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660667	0.47572	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.08282	3.11	2.12	-0.363	0.12556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	M	0.64997	1.995	0.29926	N	0.82233	P	0.37731	0.607	B	0.36378	0.223	T	0.20571	-1.0271	9	0.66056	D	0.02	.	2.9806	0.05952	0.1528:0.0:0.3618:0.4854	.	282	Q9Y2P0	ZN835_HUMAN	C	282;260	ENSP00000444747:R260C	ENSP00000341756:R282C	R	-	1	0	ZNF835	61867601	0.000000	0.05858	0.912000	0.35992	0.871000	0.50021	-2.109000	0.01335	-0.001000	0.14495	0.561000	0.74099	CGC		0.672	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		22	115	0	0	0	1	0	22	115					A	57175789	G	A	57175789	3	1	79	1	0	0	0	0	1	0	0	0	18239	1116	39	1	837	1	ZNF835	19	57175789	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	233	57175789	1953194	19803	30120											
ZNF835	90485	broad.mit.edu	37	chr19	57175850	57175850	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgtggatgcgctggtgCtctatcagggacgagcggtt	17	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175850C>T	ENST00000537055.2	-	2	948	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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						TGCGCTGGTGCTCTATCAGGG	0.687																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(715-717)gaG>gaA		zinc finger protein 835							37	36	37					19																	57175850		2203	4300	6503	SO:0001819	synonymous_variant	90485							g.chr19:57175850C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.717G>A	19.37:g.57175850C>T							p.E239E	NM_001005850.2	NP_001005850.2					2	948	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.717G>A	CCDS56105.1																																																																																				0.687	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		38	162	0	0	0	1	0	38	162					T	57175850	C	T	57175850	2	4	79	1	0	0	0	0	0	0	0	1	18239	796	28	2		2	ZNF835	19	57175850	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	57175850	1953133	19804	30121											
ZNF835	90485	broad.mit.edu	37	chr19	57176450	57176450	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctcccttgcaggccacGgcctctggctctggacagct	13	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176450G>A	ENST00000537055.2	-	2	348	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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						TGCAGGCCACGGCCTCTGGCT	0.602																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(115-117)gcC>gcT		zinc finger protein 835							78	84	82					19																	57176450		1994	4165	6159	SO:0001819	synonymous_variant	90485							g.chr19:57176450G>A	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.117C>T	19.37:g.57176450G>A							p.A39A	NM_001005850.2	NP_001005850.2					2	348	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.117C>T	CCDS56105.1																																																																																				0.602	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		54	295	0	0	0	1	0	54	295					A	57176450	G	A	57176450	2	1	79	1	0	0	0	0	0	0	0	1	18239	1103	39	1		1	ZNF835	19	57176450	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	600	57176450	1952533	19805	30122											
ZNF835	90485	broad.mit.edu	37	chr19	57176546	57176546	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aactctgcgccctggagggcGacgctcaagagtccctccat	11	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176546G>A	ENST00000537055.2	-	2	252	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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						CCTGGAGGGCGACGCTCAAGA	0.512																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(19-21)gtC>gtT		zinc finger protein 835							62	64	63					19																	57176546		1965	4147	6112	SO:0001819	synonymous_variant	90485							g.chr19:57176546G>A	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.21C>T	19.37:g.57176546G>A							p.V7V	NM_001005850.2	NP_001005850.2					2	252	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.21C>T	CCDS56105.1																																																																																				0.512	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		65	241	0	0	0	1	0	65	241					A	57176546	G	A	57176546	2	1	79	1	0	0	0	0	0	0	0	1	18239	1045	37	1		1	ZNF835	19	57176546	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96	57176546	1952437	19806	30123											
ZIM2	23619	broad.mit.edu	37	chr19	57286249	57286249	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtcacaacactggcaggctCtctctccaacgtagtcatgt	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286249C>A	ENST00000391708.3	-	12	1933	c.1391G>T	c.(1390-1392)aGa>aTa	p.R464I	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R464I|ZIM2_ENST00000601070.1_Missense_Mutation_p.R464I|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R464I|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R464I	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	464					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)		CTGGCAGGCTCTCTCTCCAAC	0.483																																						ENST00000391708.3																			0				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						c.(1390-1392)aGa>aTa		zinc finger, imprinted 2							88	70	76					19																	57286249		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286249C>A	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.1391G>T	19.37:g.57286249C>A	ENSP00000375589:p.Arg464Ile					AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R464I|ZIM2_ENST00000593711.1_Missense_Mutation_p.R464I|ZIM2_ENST00000221722.5_Missense_Mutation_p.R464I|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R464I	p.R464I	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1933	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1391G>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779564	0.31502	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05199	3.48;3.48	4.96	-1.15	0.09709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	M	0.65498	2.005	.	.	.	D	0.54397	0.966	P	0.52159	0.691	T	0.22906	-1.0203	8	0.87932	D	0	.	8.1076	0.30896	0.0:0.3778:0.0:0.6222	.	464	Q9NZV7	ZIM2_HUMAN	I	464	ENSP00000375589:R464I;ENSP00000221722:R464I	ENSP00000221722:R464I	R	-	2	0	ZIM2	61978061	0.005000	0.15991	0.020000	0.16555	0.387000	0.30353	-0.750000	0.04808	0.007000	0.14760	0.655000	0.94253	AGA		0.483	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			30	219	1	0	1.06801e-11	1	1.14091e-11	30	219					A	57286249	C	A	57286249	3	1	79	1	0	0	0	0	1	0	0	0	17737	913	32	3	196	3	ZIM2	19	57286249	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109703	57286249	1842734	19807	30124											
ZIM2	23619	broad.mit.edu	37	chr19	57286274	57286274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaacgtagtcatgtttccGctgataacgaattaagtatg	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286274G>A	ENST00000391708.3	-	12	1908	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R456W|ZIM2_ENST00000601070.1_Missense_Mutation_p.R456W|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.R456W|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R456W	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	456					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)		TCATGTTTCCGCTGATAACGA	0.468																																						ENST00000391708.3																			0				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						c.(1366-1368)Cgg>Tgg		zinc finger, imprinted 2							88	69	76					19																	57286274		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286274G>A	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.1366C>T	19.37:g.57286274G>A	ENSP00000375589:p.Arg456Trp					AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.R456W|ZIM2_ENST00000593711.1_Missense_Mutation_p.R456W|ZIM2_ENST00000221722.5_Missense_Mutation_p.R456W|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.R456W	p.R456W	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1908	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.1366C>T	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361381	0.61403	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.05513	3.43;3.43	4.63	3.52	0.40303	.	.	.	.	.	T	0.22513	0.0543	M	0.79614	2.46	.	.	.	D	0.89917	1.0	D	0.67548	0.952	T	0.17410	-1.0370	8	0.87932	D	0	.	12.0163	0.53315	0.0:0.0:0.8271:0.1729	.	456	Q9NZV7	ZIM2_HUMAN	W	456	ENSP00000375589:R456W;ENSP00000221722:R456W	ENSP00000221722:R456W	R	-	1	2	ZIM2	61978086	0.000000	0.05858	0.731000	0.30826	0.830000	0.47004	-0.107000	0.10873	2.575000	0.86900	0.655000	0.94253	CGG		0.468	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			10	285	0	0	0	1	0	10	285					A	57286274	G	A	57286274	3	1	79	1	0	0	0	0	1	0	0	0	17737	1086	38	1	221	1	ZIM2	19	57286274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25	57286274	1842709	19808	30125											
ZIM2	23619	broad.mit.edu	37	chr19	57286700	57286700	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactggggactcgtacataTtccaggagcagtgccttcct	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286700T>C	ENST00000391708.3	-	12	1482	c.940A>G	c.(940-942)Ata>Gta	p.I314V	AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	314					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)		CTCGTACATATTCCAGGAGCA	0.443																																						ENST00000391708.3																			0				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						c.(940-942)Ata>Gta		zinc finger, imprinted 2							134	125	128					19																	57286700		2203	4300	6503	SO:0001583	missense	23619							g.chr19:57286700T>C	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.940A>G	19.37:g.57286700T>C	ENSP00000375589:p.Ile314Val					AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.I314V|ZIM2_ENST00000593711.1_Missense_Mutation_p.I314V|ZIM2_ENST00000221722.5_Missense_Mutation_p.I314V|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.I314V	p.I314V	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	12	1482	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.940A>G	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	T	2.426	-0.331942	0.05314	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04049	3.72;3.72	3.69	-1.2	0.09554	.	.	.	.	.	T	0.02649	0.0080	N	0.12182	0.205	.	.	.	B	0.09022	0.002	B	0.04013	0.001	T	0.39210	-0.9625	8	0.72032	D	0.01	.	4.196	0.10443	0.0:0.4099:0.2051:0.385	.	314	Q9NZV7	ZIM2_HUMAN	V	314	ENSP00000375589:I314V;ENSP00000221722:I314V	ENSP00000221722:I314V	I	-	1	0	ZIM2	61978512	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.818000	0.04467	-0.301000	0.08882	0.533000	0.62120	ATA		0.443	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			16	385	0	0	0	1	0	16	385					C	57286700	T	C	57286700	3	2	79	1	0	0	0	0	1	0	0	0	17737	1493	52	4	647	4	ZIM2	19	57286700	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	426	57286700	1842283	19809	30126											
PEG3	5178	broad.mit.edu	37	chr19	57325143	57325143	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttctcatcagcttgattgGcaccacctgtgctggtgctg	10	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57325143G>T	ENST00000326441.9	-	10	5030	c.4667C>A	c.(4666-4668)gCc>gAc	p.A1556D	PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1556					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)		AGCTTGATTGGCACCACCTGT	0.527																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(4666-4668)gCc>gAc		paternally expressed 3							137	117	124					19																	57325143		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325143G>T	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.4667C>A	19.37:g.57325143G>T	ENSP00000326581:p.Ala1556Asp					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1430D|PEG3_ENST00000423103.2_Missense_Mutation_p.A1556D|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1432D|ZIM2_ENST00000599935.1_Intron	p.A1556D	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	5030	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1556					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4667C>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746288	0.30955	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02837	4.14;4.14	4.09	-0.906	0.10524	.	1.506540	0.04129	N	0.317640	T	0.02533	0.0077	N	0.19112	0.55	.	.	.	B;B;B	0.26002	0.139;0.139;0.139	B;B;B	0.25140	0.058;0.058;0.058	T	0.46162	-0.9211	9	0.59425	D	0.04	-1.6917	5.2732	0.15636	0.0:0.2984:0.2608:0.4407	.	1432;1556;1491	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1556	ENSP00000326581:A1556D;ENSP00000403051:A1556D	ENSP00000326581:A1556D	A	-	2	0	ZIM2	62016955	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.421000	0.07053	-0.052000	0.13311	0.591000	0.81541	GCC		0.527	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			60	326	1	0	3.89483e-19	1	4.33865e-19	60	326					T	57325143	G	T	57325143	3	4	79	1	0	0	0	0	1	0	0	0	11762	1203	42	3	103	3	PEG3	19	57325143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38443	57325143	1803840	19810	30127											
PEG3	5178	broad.mit.edu	37	chr19	57327375	57327375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactctctgatggttgataGcatcgaagctctgaatggta	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57327375G>A	ENST00000326441.9	-	10	2798	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	812					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)		ATGGTTGATAGCATCGAAGCT	0.468																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2434-2436)gCt>gTt		paternally expressed 3							138	132	134					19																	57327375		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327375G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2435C>T	19.37:g.57327375G>A	ENSP00000326581:p.Ala812Val					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A686V|PEG3_ENST00000423103.2_Missense_Mutation_p.A812V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A688V|ZIM2_ENST00000599935.1_Intron	p.A812V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2798	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	812					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2435C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	7.455	0.643516	0.14451	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02525	4.26;4.26	4.11	-8.05	0.01106	.	2.028870	0.02362	N	0.077017	T	0.00815	0.0027	N	0.00146	-1.995	.	.	.	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.51996	-0.8634	9	0.33940	T	0.23	-1.3044	9.2396	0.37489	0.1962:0.2458:0.558:0.0	.	688;812;747	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	812	ENSP00000326581:A812V;ENSP00000403051:A812V	ENSP00000326581:A812V	A	-	2	0	ZIM2	62019187	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.000000	0.12993	-1.984000	0.00985	-0.482000	0.04802	GCT		0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			159	650	0	0	0	1	0	159	650					A	57327375	G	A	57327375	3	1	79	1	0	0	0	0	1	0	0	0	11762	971	34	2	2335	2	PEG3	19	57327375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2232	57327375	1801608	19811	30128											
PEG3	5178	broad.mit.edu	37	chr19	57328183	57328183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggctaggcatgaaggCttcctcacattcctgattct	12	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328183C>T	ENST00000326441.9	-	10	1990	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	543					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)		GGCATGAAGGCTTCCTCACAT	0.448																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1627-1629)Gcc>Acc		paternally expressed 3							172	168	169					19																	57328183		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328183C>T	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.1627G>A	19.37:g.57328183C>T	ENSP00000326581:p.Ala543Thr					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A417T|PEG3_ENST00000423103.2_Missense_Mutation_p.A543T|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A419T|ZIM2_ENST00000599935.1_Intron	p.A543T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1990	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	543					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1627G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201525	0.09652	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.01613	4.73;4.73	4.14	-3.55	0.04639	.	0.757041	0.11677	N	0.540227	T	0.00724	0.0024	N	0.03324	-0.35	.	.	.	B;B;B	0.14438	0.0;0.01;0.002	B;B;B	0.09377	0.001;0.002;0.004	T	0.46020	-0.9221	9	0.24483	T	0.36	-4.8432	2.2561	0.04055	0.1053:0.1573:0.3212:0.4162	.	419;543;478	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	543;543;513	ENSP00000326581:A543T;ENSP00000403051:A543T	ENSP00000292074:A513T	A	-	1	0	ZIM2	62019995	0.000000	0.05858	0.162000	0.22713	0.559000	0.35586	-1.296000	0.02762	-0.454000	0.07066	-0.355000	0.07637	GCC		0.448	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			162	754	0	0	0	1	0	162	754					T	57328183	C	T	57328183	3	4	79	1	0	0	0	0	1	0	0	0	11762	797	28	2	3143	2	PEG3	19	57328183	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	808	57328183	1800800	19812	30129											
PEG3	5178	broad.mit.edu	37	chr19	57328491	57328491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcaattggctgtgactcgGtaaaggagggggagctgagg	17	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328491G>A	ENST00000326441.9	-	10	1682	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	440					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)		CTGTGACTCGGTAAAGGAGGG	0.498																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1318-1320)aCc>aTc		paternally expressed 3							166	156	159					19																	57328491		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328491G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1319C>T	19.37:g.57328491G>A	ENSP00000326581:p.Thr440Ile					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.T314I|PEG3_ENST00000423103.2_Missense_Mutation_p.T440I|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.T316I|ZIM2_ENST00000599935.1_Intron	p.T440I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1682	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	440					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1319C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	5.839	0.339049	0.11069	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02837	4.14;4.14	4.14	2.02	0.26589	.	0.972834	0.08419	N	0.948615	T	0.01592	0.0051	L	0.27053	0.805	.	.	.	B;B;P	0.46395	0.08;0.005;0.877	B;B;B	0.36030	0.027;0.005;0.216	T	0.12142	-1.0559	9	0.02654	T	1	-3.6534	2.948	0.05852	0.0984:0.1807:0.5344:0.1866	.	316;440;375	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	440;440;410	ENSP00000326581:T440I;ENSP00000403051:T440I	ENSP00000292074:T410I	T	-	2	0	ZIM2	62020303	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.686000	0.25392	0.714000	0.32081	-0.127000	0.14921	ACC		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			139	653	0	0	0	1	0	139	653					A	57328491	G	A	57328491	3	1	79	1	0	0	0	0	1	0	0	0	11762	1261	44	2	3451	2	PEG3	19	57328491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	308	57328491	1800492	19813	30130											
PEG3	5178	broad.mit.edu	37	chr19	57328690	57328690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgaattaaacctaaagcCtcccctaaatgcattccctt	5	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328690C>T	ENST00000326441.9	-	10	1483	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	374					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)		AACCTAAAGCCTCCCCTAAAT	0.438																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1120-1122)Ggc>Agc		paternally expressed 3							87	89	88					19																	57328690		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328690C>T	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.1120G>A	19.37:g.57328690C>T	ENSP00000326581:p.Gly374Ser					ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248S|PEG3_ENST00000423103.2_Missense_Mutation_p.G374S|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G250S|ZIM2_ENST00000599935.1_Intron	p.G374S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1483	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	374					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1120G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013665	0.35511	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02258	4.37;4.37	4.25	3.23	0.37069	.	0.309838	0.23567	N	0.046799	T	0.01661	0.0053	N	0.20986	0.625	.	.	.	B;B;B	0.33528	0.416;0.416;0.379	B;B;B	0.28638	0.092;0.092;0.07	T	0.46400	-0.9194	9	0.17369	T	0.5	-28.0444	10.2656	0.43453	0.0:0.9022:0.0:0.0977	.	250;374;309	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	374;374;344	ENSP00000326581:G374S;ENSP00000403051:G374S	ENSP00000292074:G344S	G	-	1	0	ZIM2	62020502	0.000000	0.05858	0.137000	0.22149	0.844000	0.47949	0.255000	0.18333	1.389000	0.46526	0.655000	0.94253	GGC		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			117	536	0	0	0	1	0	117	536					T	57328690	C	T	57328690	3	4	79	1	0	0	0	0	1	0	0	0	11762	681	24	2	3650	2	PEG3	19	57328690	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	57328690	1800293	19814	30131											
PEG3	5178	broad.mit.edu	37	chr19	57333086	57333086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttcaaagcttgttttcGccaccacaggaagggaaaga	9	10	1	1	rs139872811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57333086G>A	ENST00000326441.9	-	7	965	c.602C>T	c.(601-603)gCg>gTg	p.A201V	PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	201					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)	p.A201V(2)|p.A76V(1)		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)		GCTTGTTTTCGCCACCACAGG	0.532																																						ENST00000326441.9																			3	Substitution - Missense(3)	p.A201V(2)|p.A76V(1)	large_intestine(3)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(601-603)gCg>gTg		paternally expressed 3		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	176	157	164		602,224,602,227,227,227,602,227	2	0	19	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense,missense	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	64,64,64,64,64,64,64,64	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign,benign,benign,benign,benign,benign	201/1589,75/1463,201/1589,76/1465,76/528,76/528,201/1589,76/528	57333086	3,13003	2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57333086G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.602C>T	19.37:g.57333086G>A	ENSP00000326581:p.Ala201Val					ZIM2_ENST00000391708.3_Missense_Mutation_p.A76V|PEG3_ENST00000593695.1_Missense_Mutation_p.A75V|PEG3_ENST00000423103.2_Missense_Mutation_p.A201V|ZIM2_ENST00000601070.1_Missense_Mutation_p.A76V|ZIM2_ENST00000593711.1_Missense_Mutation_p.A76V|ZIM2_ENST00000221722.5_Missense_Mutation_p.A76V|PEG3_ENST00000598410.1_Missense_Mutation_p.A76V|ZIM2_ENST00000599935.1_Missense_Mutation_p.A76V	p.A201V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	965	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	201					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.602C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705777	0.68615	2.27E-4	2.33E-4	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.04758	3.56;3.56;4.18;4.18	3.03	1.98	0.26296	.	1.309430	0.05466	N	0.552168	T	0.02380	0.0073	N	0.08118	0	.	.	.	P;P;P;P	0.47253	0.804;0.628;0.628;0.892	B;B;B;B	0.30316	0.078;0.039;0.058;0.114	T	0.40627	-0.9553	9	0.72032	D	0.01	-3.6717	6.4397	0.21843	0.0:0.0:0.5316:0.4684	.	76;201;135;76	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	V	76;76;201;201;201	ENSP00000375589:A76V;ENSP00000221722:A76V;ENSP00000326581:A201V;ENSP00000403051:A201V	ENSP00000221722:A76V	A	-	2	0	ZIM2	62024898	0.051000	0.20477	0.002000	0.10522	0.476000	0.33039	0.604000	0.24164	0.724000	0.32296	0.563000	0.77884	GCG		0.532	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			158	655	0	0	0	1	0	158	655					A	57333086	G	A	57333086	3	1	79	1	0	0	0	0	1	0	0	0	11762	1087	38	1	4183	1	PEG3	19	57333086	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4396	57333086	1795897	19815	30132											
ZIM3	114026	broad.mit.edu	37	chr19	57646296	57646296	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggggctcctatctggagTgaattcttttctggtgccta	11	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646296T>G	ENST00000269834.1	-	5	1794	c.1409A>C	c.(1408-1410)cAc>cCc	p.H470P	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTATCTGGAGTGAATTCTTTT	0.423																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1408-1410)cAc>cCc		zinc finger, imprinted 3							104	103	103					19																	57646296		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646296T>G	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1409A>C	19.37:g.57646296T>G	ENSP00000269834:p.His470Pro						p.H470P	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1794	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	470					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1409A>C	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075839	0.36662	.	.	ENSG00000141946	ENST00000269834	T	0.10005	2.92	2.27	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	H	0.94542	3.55	0.26154	N	0.980096	P	0.46020	0.871	P	0.47891	0.56	T	0.15235	-1.0444	9	0.87932	D	0	.	5.3816	0.16194	0.0:0.0:0.2927:0.7073	.	470	Q96PE6	ZIM3_HUMAN	P	470	ENSP00000269834:H470P	ENSP00000269834:H470P	H	-	2	0	ZIM3	62338108	0.999000	0.42202	0.109000	0.21407	0.405000	0.30901	1.731000	0.38135	0.268000	0.21939	0.260000	0.18958	CAC		0.423	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			15	419	0	0	0	1	0	15	419					G	57646296	T	G	57646296	3	3	79	1	0	0	0	0	1	0	0	0	17738	1696	59	4	13	4	ZIM3	19	57646296	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	313210	57646296	1482687	19816	30133											
ZIM3	114026	broad.mit.edu	37	chr19	57646919	57646919	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgattaatgcaggatgatttCcaggaaaaggcttttccaca	9	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646919C>T	ENST00000269834.1	-	5	1171	c.786G>A	c.(784-786)tgG>tgA	p.W262*	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGATGATTTCCAGGAAAAGG	0.373																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(784-786)tgG>tgA		zinc finger, imprinted 3							119	117	118					19																	57646919		2203	4300	6503	SO:0001587	stop_gained	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646919C>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.786G>A	19.37:g.57646919C>T	ENSP00000269834:p.Trp262*						p.W262*	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1171	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	262					Q14CA6	Nonsense_Mutation	SNP	ENST00000269834.1	37	c.786G>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389830	0.82902	.	.	ENSG00000141946	ENST00000269834	.	.	.	2.53	-2.56	0.06268	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.3943	0.26927	0.0:0.2886:0.0:0.7114	.	.	.	.	X	262	.	ENSP00000269834:W262X	W	-	3	0	ZIM3	62338731	0.000000	0.05858	0.148000	0.22405	0.499000	0.33736	-2.059000	0.01393	-0.357000	0.08175	0.313000	0.20887	TGG		0.373	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			122	475	0	0	0	1	0	122	475					T	57646919	C	T	57646919	4	4	79	1	0	0	0	0	0	1	0	0	17738	856	30	2	636	2	ZIM3	19	57646919	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	623	57646919	1482064	19817	30134											
ZNF264	9422	broad.mit.edu	37	chr19	57716805	57716805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagctgatctgccacctagaGcatgggcaggagccatggac	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57716805G>T	ENST00000263095.6	+	3	615	c.201G>T	c.(199-201)gaG>gaT	p.E67D	ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	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)|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)		GCCACCTAGAGCATGGGCAGG	0.522																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(199-201)gaG>gaT		zinc finger protein 264							60	48	52					19																	57716805		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57716805G>T	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.201G>T	19.37:g.57716805G>T	ENSP00000263095:p.Glu67Asp					ZNF264_ENST00000536056.1_Missense_Mutation_p.E67D	p.E67D	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	615	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	67			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.201G>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	6.775	0.511876	0.12944	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.01113	5.32;5.32	2.62	-2.2	0.06994	Krueppel-associated box (3);	.	.	.	.	T	0.01156	0.0038	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.45086	-0.9285	9	0.56958	D	0.05	.	3.385	0.07268	0.4793:0.0:0.331:0.1897	.	67	O43296	ZN264_HUMAN	D	67	ENSP00000263095:E67D;ENSP00000440376:E67D	ENSP00000263095:E67D	E	+	3	2	ZNF264	62408617	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	-0.410000	0.07151	-0.380000	0.07894	-1.863000	0.00559	GAG		0.522	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			19	62	1	0	3.5997e-14	1	3.90403e-14	19	62					T	57716805	G	T	57716805	3	4	79	1	0	0	0	0	1	0	0	0	17857	962	34	3	211	3	ZNF264	19	57716805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69886	57716805	1412178	19818	30135											
ZNF264	9422	broad.mit.edu	37	chr19	57722984	57722984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgttcaaggattggacaGgagcaagtctctccaggaga	14	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57722984G>T	ENST00000263095.6	+	4	933	c.519G>T	c.(517-519)caG>caT	p.Q173H	ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	173					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)		GGATTGGACAGGAGCAAGTCT	0.468																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(517-519)caG>caT		zinc finger protein 264							104	94	98					19																	57722984		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57722984G>T	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.519G>T	19.37:g.57722984G>T	ENSP00000263095:p.Gln173His					ZNF264_ENST00000536056.1_Missense_Mutation_p.Q173H	p.Q173H	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	933	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	173					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.519G>T	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898262	0.33535	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.28069	1.63;1.63	2.35	1.19	0.21007	.	.	.	.	.	T	0.13114	0.0318	N	0.10664	0.02	0.25288	N	0.98938	P	0.36438	0.553	B	0.38712	0.28	T	0.18808	-1.0325	9	0.02654	T	1	.	7.8941	0.29695	0.1559:0.0:0.8441:0.0	.	173	O43296	ZN264_HUMAN	H	173	ENSP00000263095:Q173H;ENSP00000440376:Q173H	ENSP00000263095:Q173H	Q	+	3	2	ZNF264	62414796	0.001000	0.12720	0.005000	0.12908	0.043000	0.13939	-0.111000	0.10807	0.461000	0.27071	-0.378000	0.06908	CAG		0.468	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			60	219	1	0	2.83923e-41	1	3.44832e-41	60	219					T	57722984	G	T	57722984	3	4	79	1	0	0	0	0	1	0	0	0	17857	991	35	3	533	3	ZNF264	19	57722984	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6179	57722984	1405999	19819	30136											
ZNF264	9422	broad.mit.edu	37	chr19	57723439	57723439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaatgtggccaagtctttcGacataggccaggctttctcc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57723439G>A	ENST00000263095.6	+	4	1388	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	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)			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)		CAAGTCTTTCGACATAGGCCA	0.493																																						ENST00000263095.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(973-975)cGa>cAa		zinc finger protein 264							72	73	73					19																	57723439		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723439G>A	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.974G>A	19.37:g.57723439G>A	ENSP00000263095:p.Arg325Gln					ZNF264_ENST00000536056.1_Missense_Mutation_p.R325Q	p.R325Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1388	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	325					A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.974G>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761333	0.31228	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.18338	2.22;2.22	2.26	0.026	0.14148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29093	0.0723	L	0.53729	1.69	0.22610	N	0.998931	D	0.89917	1.0	D	0.85130	0.997	T	0.12372	-1.0550	9	0.36615	T	0.2	.	4.9234	0.13882	0.4825:0.0:0.5175:0.0	.	325	O43296	ZN264_HUMAN	Q	325	ENSP00000263095:R325Q;ENSP00000440376:R325Q	ENSP00000263095:R325Q	R	+	2	0	ZNF264	62415251	0.000000	0.05858	0.100000	0.21137	0.674000	0.39518	0.312000	0.19397	0.084000	0.17077	-0.339000	0.08088	CGA		0.493	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			59	258	0	0	0	1	0	59	258					A	57723439	G	A	57723439	3	1	79	1	0	0	0	0	1	0	0	0	17857	1058	37	1	988	1	ZNF264	19	57723439	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	455	57723439	1405544	19820	30137											
AURKC	6795	broad.mit.edu	37	chr19	57746274	57746274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacaatgtgtgggacaCtggactacttgccgccagaa	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57746274C>T	ENST00000302804.7	+	6	793	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000448930.1_Silent_p.L169L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	203	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)		GTGTGGGACACTGGACTACTT	0.483																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(607-609)Ctg>Ttg		aurora kinase C							123	103	110					19																	57746274		2203	4300	6503	SO:0001819	synonymous_variant	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746274C>T		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.607C>T	19.37:g.57746274C>T						AURKC_ENST00000598785.1_Silent_p.L169L|AURKC_ENST00000415300.2_Silent_p.L184L|AURKC_ENST00000599062.1_Silent_p.L200L|AURKC_ENST00000448930.1_Silent_p.L169L	p.L203L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	793	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	203			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	ENST00000302804.7	37	c.607C>T	CCDS33128.1																																																																																				0.483	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		41	187	0	0	0	1	0	41	187					T	57746274	C	T	57746274	2	4	79	1	0	0	0	0	0	0	0	1	1225	564	20	2		2	AURKC	19	57746274	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22835	57746274	1382709	19821	30138											
ZNF805	390980	broad.mit.edu	37	chr19	57764897	57764897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctatgaatgcacagagtgtgGaaaaacctttagcaagagta	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57764897G>A	ENST00000414468.2	+	4	710	c.710G>A	c.(709-711)gGa>gAa	p.G237E	ZNF805_ENST00000354309.4_Missense_Mutation_p.G104E|ZNF805_ENST00000535550.1_Missense_Mutation_p.G104E	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACAGAGTGTGGAAAAACCTTT	0.468																																						ENST00000535550.1																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(310-312)gGa>gAa		zinc finger protein 805							58	55	56					19																	57764897		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57764897G>A	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.710G>A	19.37:g.57764897G>A	ENSP00000412999:p.Gly237Glu					ZNF805_ENST00000354309.4_Missense_Mutation_p.G104E|ZNF805_ENST00000414468.2_Missense_Mutation_p.G237E	p.G104E	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN			4	807	+			237					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.311G>A	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469797	0.63625	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.64803	-0.12;-0.12;-0.12	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75796	0.3898	L	0.59436	1.845	0.27043	N	0.963965	D	0.89917	1.0	D	0.79108	0.992	T	0.67604	-0.5628	9	0.59425	D	0.04	.	15.0543	0.71901	0.0:0.0:1.0:0.0	.	237	Q5CZA5	ZN805_HUMAN	E	104;237;104	ENSP00000440067:G104E;ENSP00000412999:G237E;ENSP00000365414:G104E	ENSP00000365414:G104E	G	+	2	0	ZNF805	62456709	0.998000	0.40836	0.998000	0.56505	0.897000	0.52465	2.460000	0.45031	2.486000	0.83907	0.655000	0.94253	GGA		0.468	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		24	85	0	0	0	1	0	24	85					A	57764897	G	A	57764897	3	1	79	1	0	0	0	0	1	0	0	0	18225	1174	41	2	724	2	ZNF805	19	57764897	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18623	57764897	1364086	19822	30139											
ZNF805	390980	broad.mit.edu	37	chr19	57765775	57765775	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaacctcattcgacacTctatcatccacactggagag	6	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57765775T>C	ENST00000414468.2	+	4	1588	c.1588T>C	c.(1588-1590)Tct>Cct	p.S530P	ZNF805_ENST00000354309.4_Missense_Mutation_p.S397P|ZNF805_ENST00000535550.1_Missense_Mutation_p.S397P	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	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)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CATTCGACACTCTATCATCCA	0.507																																						ENST00000535550.1																			0				breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						c.(1189-1191)Tct>Cct		zinc finger protein 805							97	94	95					19																	57765775		692	1591	2283	SO:0001583	missense	390980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57765775T>C	AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1588T>C	19.37:g.57765775T>C	ENSP00000412999:p.Ser530Pro					ZNF805_ENST00000354309.4_Missense_Mutation_p.S397P|ZNF805_ENST00000414468.2_Missense_Mutation_p.S530P	p.S397P	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN			4	1685	+			530					B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	c.1189T>C	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.564893	0.45694	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.07800	3.16;3.16;3.16	4.03	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	3.312830	0.00725	N	0.000916	T	0.11196	0.0273	L	0.34521	1.04	0.09310	N	1	P	0.45428	0.858	P	0.49387	0.609	T	0.16453	-1.0402	10	0.87932	D	0	.	0.4059	0.00433	0.1837:0.1876:0.2725:0.3562	.	530	Q5CZA5	ZN805_HUMAN	P	397;530;397	ENSP00000440067:S397P;ENSP00000412999:S530P;ENSP00000365414:S397P	ENSP00000365414:S397P	S	+	1	0	ZNF805	62457587	0.000000	0.05858	0.931000	0.37212	0.989000	0.77384	-0.330000	0.07925	0.649000	0.30751	0.460000	0.39030	TCT		0.507	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1	NM_001023563		63	270	0	0	0	1	0	63	270					C	57765775	T	C	57765775	3	2	79	1	0	0	0	0	1	0	0	0	18225	1551	54	4	1602	4	ZNF805	19	57765775	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	878	57765775	1363208	19823	30140											
ZNF460	10794	broad.mit.edu	37	chr19	57802170	57802170	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcacagggagtcccaagataCtcctatttggggcaggccat	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802170C>A	ENST00000360338.3	+	3	583	c.261C>A	c.(259-261)taC>taA	p.Y87*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|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)		TCCCAAGATACTCCTATTTGG	0.522																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(259-261)taC>taA		zinc finger protein 460							75	71	72					19																	57802170		2203	4300	6503	SO:0001587	stop_gained	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802170C>A	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.261C>A	19.37:g.57802170C>A	ENSP00000353491:p.Tyr87*					ZNF460_ENST00000537645.1_Nonsense_Mutation_p.Y46*	p.Y87*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	583	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	87			KRAB.		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Nonsense_Mutation	SNP	ENST00000360338.3	37	c.261C>A	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702427	0.48307	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	.	.	.	2.06	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	5.8591	0.18736	0.3126:0.6874:0.0:0.0	.	.	.	.	X	46;87	.	ENSP00000353491:Y87X	Y	+	3	2	ZNF460	62493982	0.000000	0.05858	0.016000	0.15963	0.009000	0.06853	0.366000	0.20365	1.132000	0.42129	0.650000	0.86243	TAC		0.522	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		76	292	1	0	2.71207e-19	1	3.02352e-19	76	292					A	57802170	C	A	57802170	4	1	79	1	0	0	0	0	0	1	0	0	17977	576	20	3	271	3	ZNF460	19	57802170	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36395	57802170	1326813	19824	30141											
ZNF460	10794	broad.mit.edu	37	chr19	57802419	57802419	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attcatgaaggggaaaattcCtataaattcgaggaaatgtt	9	4	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802419C>A	ENST00000360338.3	+	3	832	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ZNF460_ENST00000537645.1_Silent_p.S129S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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)		GGGAAAATTCCTATAAATTCG	0.413																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(508-510)tcC>tcA		zinc finger protein 460							110	110	110					19																	57802419		2203	4300	6503	SO:0001819	synonymous_variant	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57802419C>A	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.510C>A	19.37:g.57802419C>A						ZNF460_ENST00000537645.1_Silent_p.S129S	p.S170S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	832	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	170					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	c.510C>A	CCDS12949.1																																																																																				0.413	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		138	578	1	0	1.61085e-67	1	2.04067e-67	138	578					A	57802419	C	A	57802419	2	1	79	1	0	0	0	0	0	0	0	1	17977	668	24	3		3	ZNF460	19	57802419	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249	57802419	1326564	19825	30142											
ZNF543	125919	broad.mit.edu	37	chr19	57839196	57839196	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccaattagggcaatccaaGgatcaggatgggccatctga	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57839196G>T	ENST00000321545.4	+	4	711	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCAATCCAAGGATCAGGATG	0.507																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(364-366)aaG>aaT		zinc finger protein 543							62	65	64					19																	57839196		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57839196G>T	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.366G>T	19.37:g.57839196G>T	ENSP00000322545:p.Lys122Asn						p.K122N	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	711	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	122					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.366G>T	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	2.947	-0.217578	0.06101	.	.	ENSG00000178229	ENST00000321545	T	0.27890	1.64	2.87	0.42	0.16444	.	.	.	.	.	T	0.18509	0.0444	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23547	-1.0185	9	0.27082	T	0.32	.	5.6372	0.17544	0.1319:0.2037:0.6644:0.0	.	122	Q08ER8	ZN543_HUMAN	N	122	ENSP00000322545:K122N	ENSP00000322545:K122N	K	+	3	2	ZNF543	62531008	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	0.122000	0.15687	0.544000	0.28883	0.555000	0.69702	AAG		0.507	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		53	232	1	0	2.9001e-28	1	3.37151e-28	53	232					T	57839196	G	T	57839196	3	4	79	1	0	0	0	0	1	0	0	0	18029	991	35	3	380	3	ZNF543	19	57839196	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36777	57839196	1289787	19826	30143											
ZNF543	125919	broad.mit.edu	37	chr19	57840074	57840074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacctcaagcagcatcaacGgattcacactggggagaagc	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840074G>A	ENST00000321545.4	+	4	1589	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGCATCAACGGATTCACACT	0.493																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1243-1245)cGg>cAg		zinc finger protein 543							99	75	83					19																	57840074		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840074G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1244G>A	19.37:g.57840074G>A	ENSP00000322545:p.Arg415Gln						p.R415Q	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1589	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	415					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1244G>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274758	0.40194	.	.	ENSG00000178229	ENST00000321545	T	0.24723	1.84	2.89	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34861	0.0912	L	0.38692	1.165	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.09530	-1.0670	9	0.87932	D	0	.	5.2016	0.15267	0.1188:0.0:0.6736:0.2076	.	415	Q08ER8	ZN543_HUMAN	Q	415	ENSP00000322545:R415Q	ENSP00000322545:R415Q	R	+	2	0	ZNF543	62531886	0.000000	0.05858	0.172000	0.22920	0.509000	0.34042	-0.031000	0.12287	0.510000	0.28216	-0.310000	0.09108	CGG		0.493	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		46	243	0	0	0	1	0	46	243					A	57840074	G	A	57840074	3	1	79	1	0	0	0	0	1	0	0	0	18029	1116	39	1	1258	1	ZNF543	19	57840074	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	878	57840074	1288909	19827	30144											
ZNF543	125919	broad.mit.edu	37	chr19	57840153	57840154	+	Frame_Shift_Ins	INS	-	-	A													gctccacttttgtcttgcatINSaaaaggacccacacaggaga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840153_57840154insA	ENST00000321545.4	+	4	1668_1669	c.1323_1324insA	c.(1324-1326)aaafs	p.K442fs		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	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)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGTCTTGCATAAAAGGACCCA	0.48																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(1321-1326)caaaagfs		zinc finger protein 543																																				SO:0001589	frameshift_variant	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840153_57840154insA	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1327dupA	19.37:g.57840157_57840157dupA	ENSP00000322545:p.Lys442fs						p.QK441fs	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1668_1669	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	441					Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Frame_Shift_Ins	INS	ENST00000321545.4	37	c.1323_1324insA	CCDS33130.1																																																																																				0.48	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		51	268						51	268	---	---	---	---	A	57840154	-	A	57840153	7	5	79	1	0	1	1	0	0	0	0	0	18029	1403	49	0	1337	0	ZNF543	19	57840153	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	79	57840153	1288830	19828	30145											
ZNF304	57343	broad.mit.edu	37	chr19	57867399	57867399	+	Splice_Site	DEL	T	T	-													agctcttttttgctttcaggTttttggtgtgaagcagaaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57867399delT	ENST00000282286.5	+	3	335	c.162delT	c.(160-162)ggt>gg	p.G54fs	ZNF304_ENST00000391705.3_Splice_Site_p.G54fs|ZNF304_ENST00000598744.1_Splice_Site_p.G12fs|ZNF304_ENST00000443917.2_Splice_Site_p.G101fs			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	54	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)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		TGCTTTCAGGTTTTTGGTGTG	0.507																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.e4-1		zinc finger protein 304							97	89	92					19																	57867399		2203	4300	6503	SO:0001630	splice_region_variant	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867399delT	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.161-1T>-	19.37:g.57867399delT						ZNF304_ENST00000443917.2_Splice_Site_p.G101_splice|ZNF304_ENST00000282286.5_Splice_Site_p.G54_splice|ZNF304_ENST00000598744.1_Splice_Site_p.G12_splice	p.G54_splice	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	446	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	54			KRAB.			Splice_Site	DEL	ENST00000282286.5	37	c.160_splice	CCDS12950.1																																																																																				0.507	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		Frame_Shift_Del	8	635						8	635	---	---	---	---	-	57867399	T	-	57867399	8	5	79	1	0	1	0	1	0	0	1	0	17886	1739	60	0	172	0	ZNF304	19	57867399	Splice_Site	DEL	T	TCGA-IB-7651-01A-11D-2154-08	27246	57867399	1261584	19829	30146											
ZNF304	57343	broad.mit.edu	37	chr19	57868033	57868033	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgttcaaggagaaatcagctCttattaatcacagaaaaatc	6	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868033C>A	ENST00000282286.5	+	3	969	c.796C>A	c.(796-798)Ctt>Att	p.L266I	ZNF304_ENST00000391705.3_Missense_Mutation_p.L266I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I|ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		GAAATCAGCTCTTATTAATCA	0.433																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(796-798)Ctt>Att		zinc finger protein 304							91	89	90					19																	57868033		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868033C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.796C>A	19.37:g.57868033C>A	ENSP00000282286:p.Leu266Ile					ZNF304_ENST00000282286.5_Missense_Mutation_p.L266I|ZNF304_ENST00000443917.2_Missense_Mutation_p.L313I|ZNF304_ENST00000598744.1_Missense_Mutation_p.L224I	p.L266I	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1080	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	266						Missense_Mutation	SNP	ENST00000282286.5	37	c.796C>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.307999	0.40895	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27104	1.69;1.69;1.69	3.7	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38983	0.1061	M	0.89534	3.04	0.09310	N	1	B;B	0.12630	0.006;0.005	B;B	0.25140	0.058;0.015	T	0.42515	-0.9447	9	0.72032	D	0.01	.	10.8293	0.46650	0.0:0.9012:0.0:0.0988	.	266;313	Q9HCX3;E7EQD3	ZN304_HUMAN;.	I	266;266;313	ENSP00000282286:L266I;ENSP00000375586:L266I;ENSP00000401642:L313I	ENSP00000282286:L266I	L	+	1	0	ZNF304	62559845	0.000000	0.05858	0.008000	0.14137	0.578000	0.36192	-0.166000	0.09954	1.150000	0.42419	0.454000	0.30748	CTT		0.433	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			61	325	1	0	2.2129e-31	1	2.60483e-31	61	325					A	57868033	C	A	57868033	3	1	79	1	0	0	0	0	1	0	0	0	17886	913	32	3	806	3	ZNF304	19	57868033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	634	57868033	1260950	19830	30147											
ZNF304	57343	broad.mit.edu	37	chr19	57868238	57868238	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agttcacactggagaaagatCttatgactgcagtgaatgtg	11	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868238C>T	ENST00000282286.5	+	3	1174	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	ZNF304_ENST00000391705.3_Missense_Mutation_p.S334F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F|ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	334				S -> P (in Ref. 1; CAC06610). {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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		GGAGAAAGATCTTATGACTGC	0.463																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(1000-1002)tCt>tTt		zinc finger protein 304							70	64	66					19																	57868238		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868238C>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1001C>T	19.37:g.57868238C>T	ENSP00000282286:p.Ser334Phe					ZNF304_ENST00000282286.5_Missense_Mutation_p.S334F|ZNF304_ENST00000443917.2_Missense_Mutation_p.S381F|ZNF304_ENST00000598744.1_Missense_Mutation_p.S292F	p.S334F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1285	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	334	S -> P (in Ref. 1; CAC06610).					Missense_Mutation	SNP	ENST00000282286.5	37	c.1001C>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359686	0.41801	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.15487	5.19;5.19;2.42	3.72	0.211	0.15236	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26955	0.0660	M	0.62016	1.91	0.09310	N	1	P;D	0.67145	0.94;0.996	P;P	0.57548	0.459;0.823	T	0.11203	-1.0597	9	0.87932	D	0	.	4.4656	0.11687	0.159:0.5608:0.0:0.2802	.	334;381	Q9HCX3;E7EQD3	ZN304_HUMAN;.	F	334;334;381	ENSP00000282286:S334F;ENSP00000375586:S334F;ENSP00000401642:S381F	ENSP00000282286:S334F	S	+	2	0	ZNF304	62560050	0.000000	0.05858	0.001000	0.08648	0.886000	0.51366	0.325000	0.19628	0.156000	0.19299	-0.225000	0.12378	TCT		0.463	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			54	252	0	0	0	1	0	54	252					T	57868238	C	T	57868238	3	4	79	1	0	0	0	0	1	0	0	0	17886	913	32	2	1011	2	ZNF304	19	57868238	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205	57868238	1260745	19831	30148											
ZNF304	57343	broad.mit.edu	37	chr19	57868604	57868604	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaatgtgggaaggcctTtggctgcaaagacacacttg	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868604T>C	ENST00000282286.5	+	3	1540	c.1367T>C	c.(1366-1368)tTt>tCt	p.F456S	ZNF304_ENST00000391705.3_Missense_Mutation_p.F456S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S|ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	456					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)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		GGGAAGGCCTTTGGCTGCAAA	0.473																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(1366-1368)tTt>tCt		zinc finger protein 304							82	80	80					19																	57868604		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868604T>C	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1367T>C	19.37:g.57868604T>C	ENSP00000282286:p.Phe456Ser					ZNF304_ENST00000282286.5_Missense_Mutation_p.F456S|ZNF304_ENST00000443917.2_Missense_Mutation_p.F503S|ZNF304_ENST00000598744.1_Missense_Mutation_p.F414S	p.F456S	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1651	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	456						Missense_Mutation	SNP	ENST00000282286.5	37	c.1367T>C	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145511	0.57044	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.47869	0.83;0.83;0.83	3.77	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61677	0.2366	M	0.86740	2.835	0.26755	N	0.970128	D;D	0.63880	0.993;0.992	P;P	0.55999	0.789;0.638	T	0.53781	-0.8390	9	0.72032	D	0.01	.	5.4267	0.16429	0.1544:0.0917:0.0:0.7539	.	456;503	Q9HCX3;E7EQD3	ZN304_HUMAN;.	S	456;456;503	ENSP00000282286:F456S;ENSP00000375586:F456S;ENSP00000401642:F503S	ENSP00000282286:F456S	F	+	2	0	ZNF304	62560416	1.000000	0.71417	0.025000	0.17156	0.950000	0.60333	7.141000	0.77330	0.255000	0.21593	0.528000	0.53228	TTT		0.473	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			79	402	0	0	0	1	0	79	402					C	57868604	T	C	57868604	3	2	79	1	0	0	0	0	1	0	0	0	17886	1841	64	4	1377	4	ZNF304	19	57868604	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	366	57868604	1260379	19832	30149											
ZNF548	147694	broad.mit.edu	37	chr19	57909869	57909869	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggagtgtcagaggttAcagcttcaaagccctgtctg	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57909869A>G	ENST00000366197.5	+	3	464	c.214A>G	c.(214-216)Aca>Gca	p.T72A	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.T75A|ZNF548_ENST00000336128.7_Missense_Mutation_p.T84A|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000597400.1_3'UTR	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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)		GTCAGAGGTTACAGCTTCAAA	0.512																																						ENST00000366197.5																			0				breast(1)	1						c.(214-216)Aca>Gca		zinc finger protein 548							97	97	97					19																	57909869		2142	4282	6424	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57909869A>G	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.214A>G	19.37:g.57909869A>G	ENSP00000379482:p.Thr72Ala					AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000597400.1_3'UTR|AC003002.6_ENST00000600421.1_Intron|AC003002.4_ENST00000597658.1_Missense_Mutation_p.75_75insA|ZNF548_ENST00000336128.7_Missense_Mutation_p.T84A|AC004076.7_ENST00000597410.1_Intron	p.T72A	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	464	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	72			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.214A>G	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	A	9.353	1.065906	0.20067	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.04970	3.52;3.52	3.25	3.25	0.37280	Krueppel-associated box (1);	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.0	T	0.46190	-0.9209	9	0.14656	T	0.56	.	5.164	0.15075	0.8649:0.0:0.1351:0.0	.	84;72	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	A	84;72	ENSP00000337555:T84A;ENSP00000379482:T72A	ENSP00000337555:T84A	T	+	1	0	ZNF548	62601681	0.000000	0.05858	0.014000	0.15608	0.006000	0.05464	0.041000	0.13927	1.500000	0.48636	0.377000	0.23210	ACA		0.512	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		63	335	0	0	0	1	0	63	335					G	57909869	A	G	57909869	3	3	79	1	0	0	0	0	1	0	0	0	18033	391	14	4	264	4	ZNF548	19	57909869	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	41265	57909869	1219114	19833	30150											
ZNF548	147694	broad.mit.edu	37	chr19	57910188	57910188	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagggccctcaaagcgagtGgaagccatacagggacacag	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910188G>T	ENST00000366197.5	+	3	783	c.533G>T	c.(532-534)tGg>tTg	p.W178L	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.W190L|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	178					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)		CAAAGCGAGTGGAAGCCATAC	0.502																																						ENST00000366197.5																			0				breast(1)	1						c.(532-534)tGg>tTg		zinc finger protein 548							63	65	64					19																	57910188		2049	4211	6260	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910188G>T	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.533G>T	19.37:g.57910188G>T	ENSP00000379482:p.Trp178Leu					AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.W190L|AC004076.7_ENST00000597410.1_Intron	p.W178L	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	783	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	178					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.533G>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	7.967	0.748220	0.15710	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.04809	3.55;3.58	2.38	1.27	0.21489	.	.	.	.	.	T	0.03695	0.0105	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39742	-0.9599	9	0.72032	D	0.01	.	6.1038	0.20061	0.0:0.0:0.6972:0.3028	.	190;178	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	L	190;178	ENSP00000337555:W190L;ENSP00000379482:W178L	ENSP00000337555:W190L	W	+	2	0	ZNF548	62602000	.	.	0.104000	0.21259	0.471000	0.32888	.	.	0.551000	0.29008	0.591000	0.81541	TGG		0.502	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		30	274	1	0	8.58068e-18	1	9.49213e-18	30	274					T	57910188	G	T	57910188	3	4	79	1	0	0	0	0	1	0	0	0	18033	1357	47	3	583	3	ZNF548	19	57910188	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	319	57910188	1218795	19834	30151											
ZNF548	147694	broad.mit.edu	37	chr19	57910367	57910367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattctttaagtacagtGccaatttcatgaaacatcag	7	7	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910367G>A	ENST00000366197.5	+	3	962	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.A250T|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	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)	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)		TAAGTACAGTGCCAATTTCAT	0.388																																						ENST00000366197.5																			0				breast(1)	1						c.(712-714)Gcc>Acc		zinc finger protein 548							48	49	49					19																	57910367		2145	4274	6419	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910367G>A	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.712G>A	19.37:g.57910367G>A	ENSP00000379482:p.Ala238Thr					AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.A250T|AC004076.7_ENST00000597410.1_Intron	p.A238T	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	962	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	238					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.712G>A	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119527	0.20877	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.15256	2.44;2.44	2.28	-1.54	0.08584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09468	0.0233	N	0.17248	0.465	0.09310	N	1	B;B	0.20988	0.05;0.03	B;B	0.23574	0.047;0.021	T	0.34453	-0.9828	9	0.48119	T	0.1	.	5.8219	0.18532	0.0:0.3077:0.2372:0.4551	.	250;238	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	T	250;238	ENSP00000337555:A250T;ENSP00000379482:A238T	ENSP00000337555:A250T	A	+	1	0	ZNF548	62602179	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-2.895000	0.00707	-0.209000	0.10156	0.655000	0.94253	GCC		0.388	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		49	199	0	0	0	1	0	49	199					A	57910367	G	A	57910367	3	1	79	1	0	0	0	0	1	0	0	0	18033	1319	46	2	762	2	ZNF548	19	57910367	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	179	57910367	1218616	19835	30152											
ZNF17	7565	broad.mit.edu	37	chr19	57929366	57929366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagagacacctgcacagCgatgtgatgctggagaactt	12	9	1	3	rs191501099	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57929366C>T	ENST00000601808.1	+	2	315	c.102C>T	c.(100-102)agC>agT	p.S34S	AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Silent_p.S46S|ZNF17_ENST00000307658.7_Silent_p.S36S|ZNF17_ENST00000595206.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		ACCTGCACAGCGATGTGATGC	0.453													C|||	6	0.00119808	0.0038	0.0014	5008	,	,		18703	0.0		0.0	False		,,,				2504	0.0				Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(106-108)agC>agT		zinc finger protein 17		C		14,4386	21.2+/-45.6	0,14,2186	189	185	186		102	-1.4	0	19		186	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	ZNF17	NM_006959.2		0,19,6481	TT,TC,CC		0.0581,0.3182,0.1462		34/663	57929366	19,12981	2200	4300	6500	SO:0001819	synonymous_variant	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57929366C>T	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.102C>T	19.37:g.57929366C>T						AC003002.6_ENST00000596400.1_Silent_p.S46S|ZNF17_ENST00000601808.1_Silent_p.S34S|ZNF17_ENST00000595206.1_Intron|AC004076.7_ENST00000597410.1_Intron	p.S36S			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	371	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	34			KRAB.		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	c.108C>T	CCDS42636.1																																																																																				0.453	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		96	827	0	0	0	1	0	96	827					T	57929366	C	T	57929366	2	4	79	1	0	0	0	0	0	0	0	1	17796	767	27	1		1	ZNF17	19	57929366	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18999	57929366	1199617	19836	30153											
ZNF749	388567	broad.mit.edu	37	chr19	57954768	57954768	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccaccctgaaggcccaGccctgcaagatgtgtagctc	10	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954768G>A	ENST00000334181.4	+	3	502	c.252G>A	c.(250-252)caG>caA	p.Q84Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	84	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(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)		TGAAGGCCCAGCCCTGCAAGA	0.522																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(250-252)caG>caA		zinc finger protein 749							84	75	78					19																	57954768		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57954768G>A	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.252G>A	19.37:g.57954768G>A						AC004076.9_ENST00000596831.1_Intron	p.Q84Q	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	502	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	84			KRAB.			Silent	SNP	ENST00000334181.4	37	c.252G>A	CCDS33132.2																																																																																				0.522	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		54	180	0	0	0	1	0	54	180					A	57954768	G	A	57954768	2	1	79	1	0	0	0	0	0	0	0	1	18184	962	34	2		2	ZNF749	19	57954768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25402	57954768	1174215	19837	30154											
ZNF749	388567	broad.mit.edu	37	chr19	57954793	57954793	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaagatgtgtagctcaattCtgaaggacattctgcacctg	10	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954793C>A	ENST00000334181.4	+	3	527	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TAGCTCAATTCTGAAGGACAT	0.512																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(277-279)Ctg>Atg		zinc finger protein 749							95	82	87					19																	57954793		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57954793C>A	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.277C>A	19.37:g.57954793C>A	ENSP00000333980:p.Leu93Met					AC004076.9_ENST00000596831.1_Intron	p.L93M	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	527	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	93			KRAB.			Missense_Mutation	SNP	ENST00000334181.4	37	c.277C>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523956	0.27299	.	.	ENSG00000186230	ENST00000334181;ENST00000415248	T;T	0.61274	3.17;0.12	1.87	-2.06	0.07298	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.59932	0.2230	M	0.61703	1.905	0.09310	N	1	D	0.56287	0.975	P	0.58013	0.831	T	0.50980	-0.8763	9	0.46703	T	0.11	.	2.2326	0.04000	0.2506:0.3665:0.0:0.3828	.	93	O43361	ZN749_HUMAN	M	93;6	ENSP00000333980:L93M;ENSP00000397745:L6M	ENSP00000333980:L93M	L	+	1	2	ZNF749	62646605	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.426000	0.01027	-0.683000	0.05190	0.313000	0.20887	CTG		0.512	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		56	208	1	0	5.82388e-19	1	6.47979e-19	56	208					A	57954793	C	A	57954793	3	1	79	1	0	0	0	0	1	0	0	0	18184	912	32	3	287	3	ZNF749	19	57954793	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25	57954793	1174190	19838	30155											
ZNF749	388567	broad.mit.edu	37	chr19	57955243	57955243	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actccaaccttattaaatatCagcaaaatcatgctggagaa	5	9	2	1	rs562343206		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955243C>T	ENST00000334181.4	+	3	977	c.727C>T	c.(727-729)Cag>Tag	p.Q243*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	243			Q -> R (in dbSNP:rs12986235).		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)		TATTAAATATCAGCAAAATCA	0.413																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(727-729)Cag>Tag		zinc finger protein 749							56	56	56					19																	57955243		2203	4300	6503	SO:0001587	stop_gained	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955243C>T	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.727C>T	19.37:g.57955243C>T	ENSP00000333980:p.Gln243*					AC004076.9_ENST00000596831.1_Intron	p.Q243*	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	977	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	243		Q -> R (in dbSNP:rs12986235).				Nonsense_Mutation	SNP	ENST00000334181.4	37	c.727C>T	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005683	0.74932	.	.	ENSG00000186230	ENST00000334181	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	6.1978	0.20559	0.2992:0.7008:0.0:0.0	.	.	.	.	X	243	.	ENSP00000333980:Q243X	Q	+	1	0	ZNF749	62647055	0.000000	0.05858	0.012000	0.15200	0.330000	0.28571	-0.190000	0.09615	1.243000	0.43853	0.305000	0.20034	CAG		0.413	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		52	222	0	0	0	1	0	52	222					T	57955243	C	T	57955243	4	4	79	1	0	0	0	0	0	1	0	0	18184	827	29	2	737	2	ZNF749	19	57955243	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	450	57955243	1173740	19839	30156											
ZNF749	388567	broad.mit.edu	37	chr19	57955694	57955694	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaaattctttagtcAccgctccacactcaatatgc	6	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955694A>G	ENST00000334181.4	+	3	1428	c.1178A>G	c.(1177-1179)cAc>cGc	p.H393R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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)		TTCTTTAGTCACCGCTCCACA	0.423																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1177-1179)cAc>cGc		zinc finger protein 749							101	101	101					19																	57955694		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955694A>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1178A>G	19.37:g.57955694A>G	ENSP00000333980:p.His393Arg					AC004076.9_ENST00000596831.1_Intron	p.H393R	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1428	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	393						Missense_Mutation	SNP	ENST00000334181.4	37	c.1178A>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	A	0.238	-1.015811	0.02078	.	.	ENSG00000186230	ENST00000334181	T	0.17691	2.26	1.73	-0.556	0.11803	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.02865	-0.47	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.42430	-0.9452	9	0.21540	T	0.41	.	6.2028	0.20585	0.5547:0.0:0.4453:0.0	.	393	O43361	ZN749_HUMAN	R	393	ENSP00000333980:H393R	ENSP00000333980:H393R	H	+	2	0	ZNF749	62647506	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	-1.884000	0.01622	-0.249000	0.09569	0.164000	0.16699	CAC		0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		81	408	0	0	0	1	0	81	408					G	57955694	A	G	57955694	3	3	79	1	0	0	0	0	1	0	0	0	18184	159	6	4	1188	4	ZNF749	19	57955694	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	451	57955694	1173289	19840	30157											
ZNF749	388567	broad.mit.edu	37	chr19	57956765	57956765	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aactcacactggagaaaggtCttatgagtgtggtgaatcca	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956765C>A	ENST00000334181.4	+	3	2499	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	750					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)		GGAGAAAGGTCTTATGAGTGT	0.398																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2248-2250)tCt>tAt		zinc finger protein 749							104	109	107					19																	57956765		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956765C>A	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.2249C>A	19.37:g.57956765C>A	ENSP00000333980:p.Ser750Tyr					AC004076.9_ENST00000596831.1_Intron	p.S750Y	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2499	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	750						Missense_Mutation	SNP	ENST00000334181.4	37	c.2249C>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	6.715	0.500702	0.12822	.	.	ENSG00000186230	ENST00000334181	T	0.01647	4.71	1.59	-0.791	0.10929	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	L	0.55103	1.725	0.09310	N	0.999996	B	0.23540	0.087	B	0.14578	0.011	T	0.39482	-0.9612	9	0.87932	D	0	.	5.8944	0.18931	0.0:0.55:0.0:0.45	.	750	O43361	ZN749_HUMAN	Y	750	ENSP00000333980:S750Y	ENSP00000333980:S750Y	S	+	2	0	ZNF749	62648577	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.050000	0.14120	-0.160000	0.11002	-0.657000	0.03884	TCT		0.398	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		83	405	1	0	2.43516e-34	1	2.89639e-34	83	405					A	57956765	C	A	57956765	3	1	79	1	0	0	0	0	1	0	0	0	18184	913	32	3	2259	3	ZNF749	19	57956765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1071	57956765	1172218	19841	30158											
ZNF749	388567	broad.mit.edu	37	chr19	57956804	57956804	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagtgtttaaatacaActccagcctcattaaacatc	4	11	1	0	rs541490509		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956804A>C	ENST00000334181.4	+	3	2538	c.2288A>C	c.(2287-2289)aAc>aCc	p.N763T	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	763					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)		TTTAAATACAACTCCAGCCTC	0.408																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2287-2289)aAc>aCc		zinc finger protein 749							94	99	97					19																	57956804		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956804A>C	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.2288A>C	19.37:g.57956804A>C	ENSP00000333980:p.Asn763Thr					AC004076.9_ENST00000596831.1_Intron	p.N763T	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2538	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	763						Missense_Mutation	SNP	ENST00000334181.4	37	c.2288A>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	-	7.354	0.623424	0.14193	.	.	ENSG00000186230	ENST00000334181	T	0.01572	4.76	1.22	-0.00992	0.13998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01421	0.0046	L	0.35487	1.065	0.09310	N	1	B	0.17852	0.024	B	0.18263	0.021	T	0.49244	-0.8960	9	0.20046	T	0.44	.	2.5274	0.04695	0.3435:0.2964:0.3602:0.0	.	763	O43361	ZN749_HUMAN	T	763	ENSP00000333980:N763T	ENSP00000333980:N763T	N	+	2	0	ZNF749	62648616	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.267000	0.01170	-0.063000	0.13065	0.172000	0.16884	AAC		0.408	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		71	378	0	0	0	1	0	71	378					C	57956804	A	C	57956804	3	2	79	1	0	0	0	0	1	0	0	0	18184	43	2	4	2298	4	ZNF749	19	57956804	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	39	57956804	1172179	19842	30159											
ZNF772	400720	broad.mit.edu	37	chr19	57987053	57987053	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggccataagtgcaaagttCtccagcatcacatcacggta	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57987053C>A	ENST00000343280.4	-	3	434	c.174G>T	c.(172-174)gaG>gaT	p.E58D	ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC003005.2_ENST00000595422.1_lincRNA|AC004076.9_ENST00000596831.1_Missense_Mutation_p.E58D|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E58D	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		GTGCAAAGTTCTCCAGCATCA	0.552																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(172-174)gaG>gaT		zinc finger protein 772							191	165	174					19																	57987053		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57987053C>A	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.174G>T	19.37:g.57987053C>A	ENSP00000341165:p.Glu58Asp					ZNF772_ENST00000356584.3_Missense_Mutation_p.E58D|ZNF772_ENST00000427512.2_Intron|AC004076.9_ENST00000596831.1_Missense_Mutation_p.E58D|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron	p.E58D	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	3	434	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	58			KRAB.		A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.174G>T	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572108	0.45798	.	.	ENSG00000197128	ENST00000343280;ENST00000319969;ENST00000356584;ENST00000291809	T;T	0.03920	3.76;3.76	3.52	2.45	0.29901	Krueppel-associated box (4);	.	.	.	.	T	0.11665	0.0284	M	0.92219	3.285	0.80722	D	1	B;B	0.14438	0.002;0.01	B;B	0.14023	0.007;0.01	T	0.01621	-1.1310	9	0.66056	D	0.02	.	8.7124	0.34391	0.0:0.7412:0.2588:0.0	.	58;58	A6NJK9;Q68DY9	.;ZN772_HUMAN	D	58;45;58;45	ENSP00000341165:E58D;ENSP00000348992:E58D	ENSP00000291809:E45D	E	-	3	2	ZNF772	62678865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.968000	0.29357	0.794000	0.33899	0.585000	0.79938	GAG		0.552	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		98	562	1	0	5.34484e-38	1	6.43097e-38	98	562					A	57987053	C	A	57987053	3	1	79	1	0	0	0	0	1	0	0	0	18198	912	32	3	1307	3	ZNF772	19	57987053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30249	57987053	1141930	19843	30160											
ZNF419	79744	broad.mit.edu	37	chr19	58004751	58004751	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgtaatgctcacctcattGaacaccagagagttcacact	7	13	3	2	rs201631255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004751G>A	ENST00000221735.7	+	5	1012	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	ZNF419_ENST00000426954.2_Missense_Mutation_p.E264K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.E263K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E264K|ZNF419_ENST00000424930.2_Missense_Mutation_p.E277K|ZNF419_ENST00000415379.2_Missense_Mutation_p.E230K|ZNF419_ENST00000347466.6_Missense_Mutation_p.E244K			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCACCTCATTGAACACCAGAG	0.413																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(829-831)Gaa>Aaa		zinc finger protein 419							89	90	90					19																	58004751		2203	4300	6503	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004751G>A	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.826G>A	19.37:g.58004751G>A	ENSP00000221735:p.Glu276Lys					ZNF419_ENST00000426954.2_Missense_Mutation_p.E264K|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.E230K|ZNF419_ENST00000354197.4_Missense_Mutation_p.E264K|ZNF419_ENST00000347466.6_Missense_Mutation_p.E244K|ZNF419_ENST00000221735.7_Missense_Mutation_p.E276K|ZNF419_ENST00000442920.2_Missense_Mutation_p.E263K	p.E277K	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1058	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	276					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.829G>A	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	7.686	0.690053	0.15039	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000427558;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;3.12;2.37;2.37	2.42	-4.83	0.03161	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04588	0.0125	N	0.05050	-0.12	0.09310	N	1	B;B;B;B;B;B;B	0.27732	0.006;0.082;0.187;0.082;0.006;0.127;0.006	B;B;B;B;B;B;B	0.24006	0.001;0.05;0.046;0.031;0.002;0.029;0.002	T	0.37407	-0.9707	9	0.07482	T	0.82	.	1.9963	0.03457	0.4678:0.1655:0.253:0.1137	.	230;230;263;264;277;244;276	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	K	251;277;264;264;147;263;277;244;230;276	ENSP00000388864:E277K;ENSP00000390916:E264K;ENSP00000346136:E264K;ENSP00000414709:E263K;ENSP00000299860:E244K;ENSP00000392129:E230K;ENSP00000221735:E276K	ENSP00000221735:E276K	E	+	1	0	ZNF419	62696563	0.000000	0.05858	0.000000	0.03702	0.394000	0.30568	-4.423000	0.00236	-1.092000	0.03062	0.195000	0.17529	GAA		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		71	402	0	0	0	1	0	71	402					A	58004751	G	A	58004751	3	1	79	1	0	0	0	0	1	0	0	0	17949	1291	45	2	847	2	ZNF419	19	58004751	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17698	58004751	1124232	19844	30161											
ZNF419	79744	broad.mit.edu	37	chr19	58004803	58004803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttttacatgcagtgaatgtgGaaaagctttcaggcataatt	9	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004803G>A	ENST00000221735.7	+	5	1064	c.878G>A	c.(877-879)gGa>gAa	p.G293E	ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|ZNF419_ENST00000424930.2_Missense_Mutation_p.G294E|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	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)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGTGAATGTGGAAAAGCTTTC	0.418																																						ENST00000424930.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(880-882)gGa>gAa		zinc finger protein 419							91	90	90					19																	58004803		2203	4298	6501	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58004803G>A	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.878G>A	19.37:g.58004803G>A	ENSP00000221735:p.Gly293Glu					ZNF419_ENST00000426954.2_Missense_Mutation_p.G281E|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Missense_Mutation_p.G247E|ZNF419_ENST00000354197.4_Missense_Mutation_p.G281E|ZNF419_ENST00000347466.6_Missense_Mutation_p.G261E|ZNF419_ENST00000221735.7_Missense_Mutation_p.G293E|ZNF419_ENST00000442920.2_Missense_Mutation_p.G280E	p.G294E	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1110	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	293					B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.881G>A	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947702	0.53186	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;3.22;2.01;2.01	2.43	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34193	0.0889	L	0.45470	1.425	0.34922	D	0.748533	D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;0.995;1.0;0.995	P;D;D;D;P;D;P	0.97110	0.665;0.999;1.0;0.999;0.833;0.999;0.833	T	0.46735	-0.9170	9	0.62326	D	0.03	.	8.495	0.33123	0.1393:0.0:0.8607:0.0	.	247;247;280;281;294;261;293	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	E	268;294;281;281;280;294;261;247;293	ENSP00000388864:G294E;ENSP00000390916:G281E;ENSP00000346136:G281E;ENSP00000414709:G280E;ENSP00000299860:G261E;ENSP00000392129:G247E;ENSP00000221735:G293E	ENSP00000221735:G293E	G	+	2	0	ZNF419	62696615	0.998000	0.40836	0.437000	0.26809	0.921000	0.55340	2.382000	0.44345	1.340000	0.45581	0.205000	0.17691	GGA		0.418	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		88	387	0	0	0	1	0	88	387					A	58004803	G	A	58004803	3	1	79	1	0	0	0	0	1	0	0	0	17949	1174	41	2	899	2	ZNF419	19	58004803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52	58004803	1124180	19845	30162											
ZNF773	374928	broad.mit.edu	37	chr19	58018058	58018058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcagtgaatgtgggaaaGcctttggtcagaaatattta	11	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018058G>A	ENST00000282292.4	+	4	735	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	199					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)		ATGTGGGAAAGCCTTTGGTCA	0.453																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(595-597)Gcc>Acc		zinc finger protein 773							56	56	56					19																	58018058		2203	4299	6502	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018058G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.595G>A	19.37:g.58018058G>A	ENSP00000282292:p.Ala199Thr					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.A198T	p.A199T	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	735	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	199					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.595G>A	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.618	-0.522152	0.04171	.	.	ENSG00000152439	ENST00000282292	T	0.00848	5.62	1.25	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00666	0.0022	N	0.20845	0.615	0.09310	N	1	B;P	0.34562	0.095;0.457	B;B	0.31390	0.026;0.129	T	0.48801	-0.9003	9	0.26408	T	0.33	.	3.5081	0.07698	0.0:0.2776:0.442:0.2804	.	198;199	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	T	199	ENSP00000282292:A199T	ENSP00000282292:A199T	A	+	1	0	ZNF773	62709870	0.000000	0.05858	0.027000	0.17364	0.680000	0.39746	-2.333000	0.01108	0.992000	0.38840	0.313000	0.20887	GCC		0.453	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		54	247	0	0	0	1	0	54	247					A	58018058	G	A	58018058	3	1	79	1	0	0	0	0	1	0	0	0	18199	971	34	2	609	2	ZNF773	19	58018058	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13255	58018058	1110925	19846	30163											
ZNF773	374928	broad.mit.edu	37	chr19	58018743	58018743	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaattttttcgccacaGctccagtcttgttaaacatc	7	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018743G>A	ENST00000282292.4	+	4	1420	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	427					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)		TTTCGCCACAGCTCCAGTCTT	0.413																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1279-1281)aGc>aAc		zinc finger protein 773							64	67	66					19																	58018743		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018743G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1280G>A	19.37:g.58018743G>A	ENSP00000282292:p.Ser427Asn					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.S426N	p.S427N	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1420	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	427					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.1280G>A	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	1.733	-0.493537	0.04322	.	.	ENSG00000152439	ENST00000282292	T	0.10477	2.87	1.03	-0.784	0.10954	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09642	0.0237	L	0.58510	1.815	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.08055	0.003;0.0	T	0.38993	-0.9635	9	0.23302	T	0.38	.	5.3128	0.15839	0.4788:0.0:0.5212:0.0	.	426;427	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	N	427	ENSP00000282292:S427N	ENSP00000282292:S427N	S	+	2	0	ZNF773	62710555	0.000000	0.05858	0.097000	0.21041	0.949000	0.60115	-2.597000	0.00894	-0.237000	0.09739	0.305000	0.20034	AGC		0.413	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		91	337	0	0	0	1	0	91	337					A	58018743	G	A	58018743	3	1	79	1	0	0	0	0	1	0	0	0	18199	971	34	2	1294	2	ZNF773	19	58018743	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	685	58018743	1110240	19847	30164											
ZNF549	256051	broad.mit.edu	37	chr19	58048598	58048598	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcatggaatagaggctgagGaggccccttctgagcagact	14	9	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58048598G>T	ENST00000376233.3	+	4	407	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	76	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		AGAGGCTGAGGAGGCCCCTTC	0.463																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(226-228)Gag>Tag		zinc finger protein 549							104	99	100					19																	58048598		2203	4300	6503	SO:0001587	stop_gained	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58048598G>T	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.226G>T	19.37:g.58048598G>T	ENSP00000365407:p.Glu76*					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E63*	p.E76*	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	407	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	76			KRAB.		B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	37	c.226G>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604444	0.66445	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.28	0.8	0.18672	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.1166	0.10084	0.2989:0.0:0.7011:0.0	.	.	.	.	X	63;76	.	ENSP00000240719:E63X	E	+	1	0	ZNF549	62740410	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.050000	0.14120	0.260000	0.21731	0.655000	0.94253	GAG		0.463	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		93	393	1	0	1.69331e-39	1	2.04788e-39	93	393					T	58048598	G	T	58048598	4	4	79	1	0	0	0	0	0	1	0	0	18034	1175	41	3	197	3	ZNF549	19	58048598	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29855	58048598	1080385	19848	30165											
ZNF549	256051	broad.mit.edu	37	chr19	58049123	58049123	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaaaagcttataagcgtaggGaatatgggaaatccttgaac	10	5	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58049123G>T	ENST00000376233.3	+	4	932	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TAAGCGTAGGGAATATGGGAA	0.368																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(751-753)Gaa>Taa		zinc finger protein 549							71	73	72					19																	58049123		2203	4300	6503	SO:0001587	stop_gained	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049123G>T	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.751G>T	19.37:g.58049123G>T	ENSP00000365407:p.Glu251*					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.E238*	p.E251*	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	932	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	251					B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	37	c.751G>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339716	0.81911	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.62	-3.36	0.04913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.5826	0.12266	0.2336:0.3431:0.4233:0.0	.	.	.	.	X	238;251	.	ENSP00000240719:E238X	E	+	1	0	ZNF549	62740935	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.119000	0.10676	-0.785000	0.04522	0.555000	0.69702	GAA		0.368	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		100	442	1	0	3.39216e-54	1	4.23318e-54	100	442					T	58049123	G	T	58049123	4	4	79	1	0	0	0	0	0	1	0	0	18034	1175	41	3	722	3	ZNF549	19	58049123	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525	58049123	1079860	19849	30166											
ZNF550	162972	broad.mit.edu	37	chr19	58058796	58058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatggtgctgcatgaggtaCgacctgcgtttgaaggcctt	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58058796C>T	ENST00000457177.1	-	4	996	c.816G>A	c.(814-816)tcG>tcA	p.S272S	ZNF550_ENST00000325134.5_Silent_p.S240S|ZNF550_ENST00000506609.2_Silent_p.S231S|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	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)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATGAGGTACGACCTGCGTT	0.512																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(718-720)tcG>tcA		zinc finger protein 550							127	105	113					19																	58058796		2203	4300	6503	SO:0001819	synonymous_variant	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58058796C>T	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"Zinc fingers, C2H2-type"	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.816G>A	19.37:g.58058796C>T						ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000506609.2_Silent_p.S231S|ZNF550_ENST00000457177.1_Silent_p.S272S	p.S240S			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	876	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	272					B3KVF6|O43337|Q7Z6D7|Q8NE45	Silent	SNP	ENST00000457177.1	37	c.720G>A																																																																																					0.512	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		69	259	0	0	0	1	0	69	259					T	58058796	C	T	58058796	2	4	79	1	0	0	0	0	0	0	0	1	18035	523	19	1		1	ZNF550	19	58058796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9673	58058796	1070187	19850	30167											
ZNF550	162972	broad.mit.edu	37	chr19	58059348	58059348	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttggctctctggtatgaacTtgtgctctgtcacctgaagg	12	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58059348T>G	ENST00000457177.1	-	4	444	c.264A>C	c.(262-264)caA>caC	p.Q88H	ZNF550_ENST00000325134.5_Missense_Mutation_p.Q56H|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTATGAACTTGTGCTCTGT	0.448																																						ENST00000325134.5																			0				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(166-168)caA>caC		zinc finger protein 550							77	79	78					19																	58059348		2203	4300	6503	SO:0001583	missense	162972				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58059348T>G	AL833214	CCDS35500.1, CCDS35500.2	19q13.43	2013-05-22			ENSG00000251369	ENSG00000251369		"Zinc fingers, C2H2-type"	28643	protein-coding gene	gene with protein product						12477932	Standard	NM_001277090		Approved	MGC41917	uc002qpd.4	Q7Z398	OTTHUMG00000133709	ENST00000457177.1:c.264A>C	19.37:g.58059348T>G	ENSP00000469679:p.Gln88His					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.Q47H|ZNF550_ENST00000457177.1_Missense_Mutation_p.Q88H	p.Q56H			Q7Z398	ZN550_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	324	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	88			KRAB.		B3KVF6|O43337|Q7Z6D7|Q8NE45	Missense_Mutation	SNP	ENST00000457177.1	37	c.168A>C		.	.	.	.	.	.	.	.	.	.	T	13.70	2.314786	0.40996	.	.	ENSG00000251369	ENST00000344222;ENST00000325134;ENST00000506609	T;T	0.22743	1.94;1.94	3.72	1.54	0.23209	.	.	.	.	.	T	0.16085	0.0387	L	0.32530	0.975	0.09310	N	1	P	0.39624	0.681	B	0.41946	0.371	T	0.16276	-1.0408	9	0.56958	D	0.05	.	3.8379	0.08902	0.0:0.1185:0.2194:0.6621	.	56	Q7Z398-2	.	H	88;56;47	ENSP00000446224:Q56H;ENSP00000422344:Q47H	ENSP00000446224:Q56H	Q	-	3	2	AC003682.1	62751160	0.000000	0.05858	0.001000	0.08648	0.123000	0.20343	-0.094000	0.11094	0.138000	0.18790	0.533000	0.62120	CAA		0.448	ZNF550-001	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000257992.2	NM_153231		111	523	0	0	0	1	0	111	523					G	58059348	T	G	58059348	3	3	79	1	0	0	0	0	1	0	0	0	18035	1606	56	4	1008	4	ZNF550	19	58059348	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	552	58059348	1069635	19851	30168											
ZNF416	55659	broad.mit.edu	37	chr19	58083494	58083494	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttcaagagttaaacaAtgttagatcttgggctgtag	12	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58083494A>C	ENST00000196489.3	-	4	2000	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	593					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAGTTAAACAATGTTAGATCT	0.458																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(1777-1779)aTt>aGt		zinc finger protein 416							157	151	153					19																	58083494		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58083494A>C	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1778T>G	19.37:g.58083494A>C	ENSP00000196489:p.Ile593Ser						p.I593S	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	2000	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	593					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.1778T>G	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	A	8.822	0.937800	0.18206	.	.	ENSG00000083817	ENST00000196489	T	0.07444	3.19	3.15	-0.543	0.11851	.	.	.	.	.	T	0.06962	0.0177	L	0.39898	1.24	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.35525	-0.9785	9	0.87932	D	0	.	4.7548	0.13078	0.5167:0.3727:0.1106:0.0	.	593	Q9BWM5	ZN416_HUMAN	S	593	ENSP00000196489:I593S	ENSP00000196489:I593S	I	-	2	0	ZNF416	62775306	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.512000	0.35812	-0.348000	0.08286	-0.411000	0.06167	ATT		0.458	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		135	693	0	0	0	1	0	135	693					C	58083494	A	C	58083494	3	2	79	1	0	0	0	0	1	0	0	0	17946	101	4	4	10	4	ZNF416	19	58083494	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	24146	58083494	1045489	19852	30169											
ZIK1	284307	broad.mit.edu	37	chr19	58101631	58101631	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cttgaagagggacatggacaGagcctcatatgtgaagtgct	13	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58101631G>A	ENST00000597850.1	+	4	667	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	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)			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)		GACATGGACAGAGCCTCATAT	0.493																																						ENST00000597850.1																			0				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						c.(451-453)aGa>aAa		zinc finger protein interacting with K protein 1							98	83	88					19																	58101631		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101631G>A	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.452G>A	19.37:g.58101631G>A	ENSP00000472867:p.Arg151Lys					ZIK1_ENST00000536878.2_Missense_Mutation_p.R138K|ZIK1_ENST00000599456.1_Missense_Mutation_p.R96K|ZIK1_ENST00000307468.4_3'UTR	p.R151K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	667	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	151					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.452G>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	6.463	0.453628	0.12283	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.05081	3.5	2.84	-3.46	0.04767	.	.	.	.	.	T	0.03651	0.0104	L	0.28649	0.875	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.48581	-0.9023	9	0.06891	T	0.86	.	7.6484	0.28334	0.6221:0.0:0.3779:0.0	.	138;151	F5H435;Q3SY52	.;ZIK1_HUMAN	K	138;132;151	ENSP00000438487:R138K	ENSP00000303820:R151K	R	+	2	0	ZIK1	62793443	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.568000	0.05909	-0.689000	0.05149	-0.391000	0.06502	AGA		0.493	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		58	280	0	0	0	1	0	58	280					A	58101631	G	A	58101631	3	1	79	1	0	0	0	0	1	0	0	0	17736	942	33	2	466	2	ZIK1	19	58101631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18137	58101631	1027352	19853	30170											
ZNF530	348327	broad.mit.edu	37	chr19	58117676	58117676	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgacacaggaaagcacaCggtagaacaaggactcatga	10	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58117676C>T	ENST00000332854.6	+	3	1003	c.783C>T	c.(781-783)caC>caT	p.H261H	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAGCACACGGTAGAACAA	0.438																																						ENST00000332854.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(781-783)caC>caT		zinc finger protein 530							90	83	85					19																	58117676		2203	4300	6503	SO:0001819	synonymous_variant	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117676C>T	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.783C>T	19.37:g.58117676C>T						ZNF530_ENST00000597864.1_Intron	p.H261H	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1003	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	261					O43340|Q9P220	Silent	SNP	ENST00000332854.6	37	c.783C>T	CCDS12955.1																																																																																				0.438	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		81	335	0	0	0	1	0	81	335					T	58117676	C	T	58117676	2	4	79	1	0	0	0	0	0	0	0	1	18024	535	19	1		1	ZNF530	19	58117676	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16045	58117676	1011307	19854	30171											
ZNF134	7693	broad.mit.edu	37	chr19	58132057	58132057	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagccgcaaagacacActtgtccagcaccagagaat	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58132057A>G	ENST00000396161.5	+	3	880	c.570A>G	c.(568-570)acA>acG	p.T190T		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCAAAGACACACTTGTCCAGC	0.488																																						ENST00000396161.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(568-570)acA>acG		zinc finger protein 134							54	59	57					19																	58132057		2203	4299	6502	SO:0001819	synonymous_variant	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132057A>G	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.570A>G	19.37:g.58132057A>G							p.T190T	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	880	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	190					Q9Y4B2	Silent	SNP	ENST00000396161.5	37	c.570A>G	CCDS42638.1																																																																																				0.488	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		54	222	0	0	0	1	0	54	222					G	58132057	A	G	58132057	2	3	79	1	0	0	0	0	0	0	0	1	17777	146	6	4		4	ZNF134	19	58132057	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14381	58132057	996926	19855	30172											
ZNF211	10520	broad.mit.edu	37	chr19	58152484	58152484	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacgccactcaaacaggggaGaagccaaataacagtaacaa	9	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58152484G>A	ENST00000347302.3	+	3	809	c.630G>A	c.(628-630)gaG>gaA	p.E210E	ZNF211_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000544273.1_Silent_p.E222E|ZNF211_ENST00000240731.4_Silent_p.E223E	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	210					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAGGGGAGAAGCCAAATA	0.473																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(664-666)gaG>gaA		zinc finger protein 211							53	53	53					19																	58152484		2203	4300	6503	SO:0001819	synonymous_variant	0					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152484G>A	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.630G>A	19.37:g.58152484G>A						ZNF211_ENST00000299871.5_Silent_p.E275E|ZNF211_ENST00000420680.1_Silent_p.E214E|ZNF211_ENST00000254182.7_Silent_p.E201E|ZNF211_ENST00000541801.1_Silent_p.E201E|ZNF211_ENST00000391703.3_Silent_p.E149E|ZNF211_ENST00000347302.3_Silent_p.E210E|ZNF211_ENST00000240731.4_Silent_p.E223E	p.E222E			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	993	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	210					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Silent	SNP	ENST00000347302.3	37	c.666G>A	CCDS12957.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029395	0.19512	.	.	ENSG00000121417	ENST00000407202	T	0.19806	2.12	3.24	1.01	0.19927	.	.	.	.	.	T	0.20210	0.0486	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22941	-1.0202	6	0.54805	T	0.06	.	5.2711	0.15624	0.1047:0.0:0.5413:0.354	.	.	.	.	K	214	ENSP00000384436:E214K	ENSP00000384436:E214K	E	+	1	0	ZNF211	62844296	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	0.297000	0.19101	0.371000	0.24564	0.591000	0.81541	GAA		0.473	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			56	227	0	0	0	1	0	56	227					A	58152484	G	A	58152484	2	1	79	1	0	0	0	0	0	0	0	1	17820	933	33	2		2	ZNF211	19	58152484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20427	58152484	976499	19856	30173											
ZSCAN4	201516	broad.mit.edu	37	chr19	58189722	58189722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagagcagagctagtcactGctagatctcaggaagggtcc	12	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58189722G>A	ENST00000318203.5	+	5	1448	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	251					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		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;0.026)		GCTAGTCACTGCTAGATCTCA	0.493																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(751-753)Gct>Act		zinc finger and SCAN domain containing 4							88	81	84					19																	58189722		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58189722G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.751G>A	19.37:g.58189722G>A	ENSP00000321963:p.Ala251Thr						p.A251T	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1448	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	251					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.751G>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	9.831	1.188453	0.21954	.	.	ENSG00000180532	ENST00000318203	T	0.06849	3.25	3.81	-2.06	0.07298	.	2.348450	0.01409	N	0.013930	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.33803	-0.9854	10	0.21014	T	0.42	0.1009	4.7069	0.12855	0.0:0.3152:0.3616:0.3232	.	251	Q8NAM6	ZSCA4_HUMAN	T	251	ENSP00000321963:A251T	ENSP00000321963:A251T	A	+	1	0	ZSCAN4	62881534	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.181000	0.03085	-0.538000	0.06281	-0.262000	0.10625	GCT		0.493	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		49	239	0	0	0	1	0	49	239					A	58189722	G	A	58189722	3	1	79	1	0	0	0	0	1	0	0	0	18290	1319	46	2	761	2	ZSCAN4	19	58189722	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37238	58189722	939261	19857	30174											
ZSCAN4	201516	broad.mit.edu	37	chr19	58190148	58190148	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atgagagaatccacacaggaGaaaagccttatacatgtccc	8	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58190148G>T	ENST00000318203.5	+	5	1874	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	393					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		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;0.026)		CCACACAGGAGAAAAGCCTTA	0.453																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(1177-1179)Gaa>Taa		zinc finger and SCAN domain containing 4							117	127	124					19																	58190148		2203	4300	6503	SO:0001587	stop_gained	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190148G>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"-", "Zinc fingers, C2H2-type"	23709	protein-coding gene	gene with protein product		613419	"zinc finger protein 494"	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1177G>T	19.37:g.58190148G>T	ENSP00000321963:p.Glu393*						p.E393*	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1874	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	393					Q3MIQ2	Nonsense_Mutation	SNP	ENST00000318203.5	37	c.1177G>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	44	10.753146	0.99461	.	.	ENSG00000180532	ENST00000318203	.	.	.	4.88	4.88	0.63580	.	0.441828	0.19597	N	0.110492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.1709	17.3303	0.87261	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000321963:E393X	E	+	1	0	ZSCAN4	62881960	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	3.907000	0.56348	2.699000	0.92147	0.650000	0.86243	GAA		0.453	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		140	650	1	0	5.13159e-70	1	6.51657e-70	140	650					T	58190148	G	T	58190148	4	4	79	1	0	0	0	0	0	1	0	0	18290	943	33	3	1187	3	ZSCAN4	19	58190148	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	426	58190148	938835	19858	30175											
ZNF551	90233	broad.mit.edu	37	chr19	58198782	58198782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaagctctagcctttttcGacaccagagagttcactctg	7	12	3	1	rs372448156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58198782G>A	ENST00000282296.5	+	3	1324	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	ZNF551_ENST00000356715.4_Missense_Mutation_p.R364Q|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	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)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCCTTTTTCGACACCAGAGA	0.438																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1138-1140)cGa>cAa		zinc finger protein 551		G	GLN/ARG	0,4406		0,0,2203	75	76	76		1091	-4.9	0	19		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF551	NM_138347.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	364/655	58198782	1,13005	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198782G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1139G>A	19.37:g.58198782G>A	ENSP00000282296:p.Arg380Gln					ZNF551_ENST00000356715.4_Missense_Mutation_p.R364Q|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	p.R380Q	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1324	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	380					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1139G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.182|4.182	0.032376|0.032376	0.08101|0.08101	0.0|0.0	1.16E-4|1.16E-4	ENSG00000204519|ENSG00000228006	ENST00000356715;ENST00000282296;ENST00000359821|ENST00000541705	.|.	.|.	.|.	2.43|2.43	-4.86|-4.86	0.03132|0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|2.890370	.|0.02186	.|N	.|0.060881	T|T	0.26774|0.26774	0.0655|0.0655	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	1|1	B|.	0.26002|.	0.139|.	B|.	0.17433|.	0.018|.	T|T	0.29397|0.29397	-1.0013|-1.0013	8|7	0.05436|0.02654	T|T	0.98|1	.|.	2.0805|2.0805	0.03634|0.03634	0.4024:0.1262:0.3453:0.1261|0.4024:0.1262:0.3453:0.1261	.|.	380|.	Q7Z340|.	ZN551_HUMAN|.	Q|L	380;364;163|208	.|.	ENSP00000282296:R364Q|ENSP00000437781:S208L	R|S	+|-	2|2	0|0	ZNF551|AC004017.1	62890594|62890594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-8.977000|-8.977000	0.00015|0.00015	-1.382000|-1.382000	0.02109|0.02109	-0.367000|-0.367000	0.07326|0.07326	CGA|TCG		0.438	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		77	368	0	0	0	1	0	77	368					A	58198782	G	A	58198782	3	1	79	1	0	0	0	0	1	0	0	0	18036	1058	37	1	1101	1	ZNF551	19	58198782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8634	58198782	930201	19859	30176											
ZNF671	79891	broad.mit.edu	37	chr19	58232036	58232036	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cataaggcttttctccagagTgaactttctggtgctgaatg	10	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232036T>G	ENST00000317398.6	-	4	1513	c.1418A>C	c.(1417-1419)cAc>cCc	p.H473P	ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		TTCTCCAGAGTGAACTTTCTG	0.473																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1417-1419)cAc>cCc		zinc finger protein 671							122	114	117					19																	58232036		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232036T>G		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.1418A>C	19.37:g.58232036T>G	ENSP00000321848:p.His473Pro					ZNF671_ENST00000335820.3_Missense_Mutation_p.H375P|AC003006.7_ENST00000599221.1_Intron	p.H473P	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1513	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	473					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1418A>C	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.844404	0.51164	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.67698	-0.28;-0.28	1.73	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82522	0.5055	M	0.92880	3.355	0.37259	D	0.906888	D	0.76494	0.999	D	0.91635	0.999	D	0.84303	0.0506	9	0.87932	D	0	.	7.4287	0.27115	0.0:0.0:0.0:1.0	.	473	Q8TAW3	ZN671_HUMAN	P	473;375	ENSP00000321848:H473P;ENSP00000338670:H375P	ENSP00000321848:H473P	H	-	2	0	ZNF671	62923848	1.000000	0.71417	0.024000	0.17045	0.981000	0.71138	6.306000	0.72810	1.042000	0.40150	0.383000	0.25322	CAC		0.473	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		112	476	0	0	0	1	0	112	476					G	58232036	T	G	58232036	3	3	79	1	0	0	0	0	1	0	0	0	18131	1696	59	4	190	4	ZNF671	19	58232036	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33254	58232036	896947	19860	30177											
ZNF671	79891	broad.mit.edu	37	chr19	58232204	58232204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctttctccagtgtgagttCgttggtgcagaacaagtgtg	13	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232204C>T	ENST00000317398.6	-	4	1345	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	ZNF671_ENST00000335820.3_Missense_Mutation_p.R319Q|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	417					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)		AGTGTGAGTTCGTTGGTGCAG	0.488																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1249-1251)cGa>cAa		zinc finger protein 671							128	102	111					19																	58232204		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232204C>T		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.1250G>A	19.37:g.58232204C>T	ENSP00000321848:p.Arg417Gln					ZNF671_ENST00000335820.3_Missense_Mutation_p.R319Q|AC003006.7_ENST00000599221.1_Intron	p.R417Q	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1345	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	417					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.1250G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653582	0.88056	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.24723	1.84;1.84	1.88	1.88	0.25563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	L	0.60845	1.875	0.20638	N	0.999879	D	0.89917	1.0	D	0.64877	0.93	T	0.11494	-1.0585	9	0.87932	D	0	.	9.7464	0.40448	0.0:1.0:0.0:0.0	.	417	Q8TAW3	ZN671_HUMAN	Q	417;319	ENSP00000321848:R417Q;ENSP00000338670:R319Q	ENSP00000321848:R417Q	R	-	2	0	ZNF671	62924016	0.000000	0.05858	0.008000	0.14137	0.985000	0.73830	-0.672000	0.05244	1.359000	0.45940	0.467000	0.42956	CGA		0.488	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		92	387	0	0	0	1	0	92	387					T	58232204	C	T	58232204	3	4	79	1	0	0	0	0	1	0	0	0	18131	884	31	1	358	1	ZNF671	19	58232204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	168	58232204	896779	19861	30178											
ZNF671	79891	broad.mit.edu	37	chr19	58232254	58232254	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactctttcccacattcGctgcatacataaggcctggc	7	14	1	1	rs147122818	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232254G>A	ENST00000317398.6	-	4	1295	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	ZNF671_ENST00000335820.3_Silent_p.S302S|ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	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)			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)		TCCCACATTCGCTGCATACAT	0.468													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19052	0.0		0.0	False		,,,				2504	0.001					ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1198-1200)agC>agT		zinc finger protein 671		G		2,4404	4.2+/-10.8	0,2,2201	115	92	100		1200	-3.8	0	19	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous	ZNF671	NM_024833.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		400/535	58232254	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232254G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1200C>T	19.37:g.58232254G>A						ZNF671_ENST00000335820.3_Silent_p.S302S|AC003006.7_ENST00000599221.1_Intron	p.S400S	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1295	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	400					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.1200C>T	CCDS12961.1																																																																																				0.468	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		7	396	0	0	0	1	0	7	396					A	58232254	G	A	58232254	2	1	79	1	0	0	0	0	0	0	0	1	18131	1078	38	1		1	ZNF671	19	58232254	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50	58232254	896729	19862	30179											
ZNF671	79891	broad.mit.edu	37	chr19	58238764	58238764	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcagcacccacccgcgCggagtccgttagctccgcca	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58238764C>T	ENST00000317398.6	-	1	228	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|ZNF671_ENST00000335820.3_5'UTR|ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	45					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)		CCCACCCGCGCGGAGTCCGTT	0.682																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(133-135)Gcg>Acg		zinc finger protein 671							21	24	23					19																	58238764		2201	4298	6499	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58238764C>T		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.133G>A	19.37:g.58238764C>T	ENSP00000321848:p.Ala45Thr					ZNF671_ENST00000596939.1_Missense_Mutation_p.A45T|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000599221.1_Intron	p.A45T	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	228	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	45					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.133G>A	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	3.613	-0.079148	0.07141	.	.	ENSG00000083814	ENST00000317398	T	0.00801	5.68	1.45	-1.0	0.10196	Krueppel-associated box (1);	.	.	.	.	T	0.00384	0.0012	N	0.08118	0	0.20196	N	0.999923	P	0.45396	0.857	B	0.21360	0.034	T	0.46105	-0.9215	9	0.22109	T	0.4	.	2.0183	0.03503	0.3123:0.4741:0.0:0.2136	.	45	Q8TAW3	ZN671_HUMAN	T	45	ENSP00000321848:A45T	ENSP00000321848:A45T	A	-	1	0	ZNF671	62930576	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.950000	0.29122	-0.217000	0.10033	-0.373000	0.07131	GCG		0.682	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		36	125	0	0	0	1	0	36	125					T	58238764	C	T	58238764	3	4	79	1	0	0	0	0	1	0	0	0	18131	768	27	1	1487	1	ZNF671	19	58238764	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6510	58238764	890219	19863	30180											
ZNF776	284309	broad.mit.edu	37	chr19	58262226	58262226	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctccttagtgaggctcagaGatgcctttatcatgacgtga	10	9	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58262226G>A	ENST00000317178.5	+	2	370	c.107G>A	c.(106-108)aGa>aAa	p.R36K	AC003006.7_ENST00000594684.1_Missense_Mutation_p.R36K|ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GAGGCTCAGAGATGCCTTTAT	0.473																																						ENST00000317178.5																			0				cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(106-108)aGa>aAa		zinc finger protein 776							286	220	242					19																	58262226		2203	4300	6503	SO:0001583	missense	284309							g.chr19:58262226G>A	AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.107G>A	19.37:g.58262226G>A	ENSP00000321812:p.Arg36Lys					ZNF776_ENST00000431353.1_Missense_Mutation_p.R36K	p.R36K	NM_173632.3	NP_775903.3				UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)	2	370	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)						Q6ZS36|Q8N968	Missense_Mutation	SNP	ENST00000317178.5	37	c.107G>A	CCDS12962.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.616021|2.616021	0.46631|0.46631	.|.	.|.	ENSG00000152443|ENSG00000152443	ENST00000451849|ENST00000317178;ENST00000431353	.|T;T	.|0.01685	.|4.69;4.69	1.5|1.5	1.5|1.5	0.22942|0.22942	.|Krueppel-associated box (4);	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	L|L	0.37561|0.37561	1.115|1.115	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.87578	.|0.998;0.994	T|T	0.49263|0.49263	-0.8958|-0.8958	5|9	.|0.30854	.|T	.|0.27	.|.	6.4096|6.4096	0.21684|0.21684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|36;36	.|Q68DI1;B4DSC6	.|ZN776_HUMAN;.	N|K	19|36	.|ENSP00000321812:R36K;ENSP00000405772:R36K	.|ENSP00000321812:R36K	D|R	+|+	1|2	0|0	ZNF776|ZNF776	62954038|62954038	0.000000|0.000000	0.05858|0.05858	0.022000|0.022000	0.16811|0.16811	0.910000|0.910000	0.53928|0.53928	-0.429000|-0.429000	0.06982|0.06982	1.151000|1.151000	0.42436|0.42436	0.313000|0.313000	0.20887|0.20887	GAT|AGA		0.473	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346722.2	NM_173632		71	375	0	0	0	1	0	71	375					A	58262226	G	A	58262226	3	1	79	1	0	0	0	0	1	0	0	0	18202	942	33	2	113	2	ZNF776	19	58262226	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23462	58262226	866757	19864	30181											
ZNF586	54807	broad.mit.edu	37	chr19	58290546	58290546	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccagtctcattaaccacagGaaagttcactctggagcaaa	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58290546G>A	ENST00000396154.2	+	3	764	c.591G>A	c.(589-591)agG>agA	p.R197R	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000396150.4_Missense_Mutation_p.G155E|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAACCACAGGAAAGTTCACT	0.433																																						ENST00000396150.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(463-465)gGa>gAa		zinc finger protein 586							102	104	104					19																	58290546		2156	4290	6446	SO:0001819	synonymous_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290546G>A	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.591G>A	19.37:g.58290546G>A						ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Silent_p.R197R|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Silent_p.R154R|ZNF586_ENST00000599802.1_Intron	p.G155E	NM_001077426.2	NP_001070894.1	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	611	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	146					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.464G>A	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	G	6.409	0.443595	0.12164	.	.	ENSG00000083828	ENST00000396150	T	0.04551	3.6	1.56	0.411	0.16392	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.09310	N	0.999998	P	0.43231	0.801	P	0.47786	0.557	T	0.35992	-0.9766	8	0.29301	T	0.29	.	2.7407	0.05252	0.3539:0.2537:0.3924:0.0	.	155	A0JLV8	.	E	155	ENSP00000379454:G155E	ENSP00000379454:G155E	G	+	2	0	ZNF586	62982358	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.656000	0.05342	-0.015000	0.14150	0.591000	0.81541	GGA		0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652		93	452	0	0	0	1	0	93	452					A	58290546	G	A	58290546	2	1	79	1	0	0	0	0	0	0	0	1	18072	1165	41	2		2	ZNF586	19	58290546	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28320	58290546	838437	19865	30182											
ZNF552	79818	broad.mit.edu	37	chr19	58320176	58320176	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcgcaaacaacgcctcCtcaacactccctctgtaggg	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58320176C>A	ENST00000391701.1	-	3	625	c.456G>T	c.(454-456)gaG>gaT	p.E152D	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	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)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACAACGCCTCCTCAACACTCC	0.483																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(454-456)gaG>gaT		zinc finger protein 552							137	134	135					19																	58320176		2203	4300	6503	SO:0001583	missense	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58320176C>A	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.456G>T	19.37:g.58320176C>A	ENSP00000375582:p.Glu152Asp					ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	p.E152D	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	625	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	152					B3KUE9|Q6P5A6	Missense_Mutation	SNP	ENST00000391701.1	37	c.456G>T	CCDS12963.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.042238	0.00402	.	.	ENSG00000178935	ENST00000391701	T	0.04654	3.58	1.4	-1.37	0.09056	.	.	.	.	.	T	0.01765	0.0056	N	0.03608	-0.345	0.09310	N	1	B;B	0.25169	0.119;0.0	B;B	0.28139	0.086;0.0	T	0.46925	-0.9156	9	0.06625	T	0.88	.	4.5962	0.12330	0.0:0.4734:0.3019:0.2246	.	148;152	B7Z1H1;Q9H707	.;ZN552_HUMAN	D	152	ENSP00000375582:E152D	ENSP00000375582:E152D	E	-	3	2	ZNF552	63011988	0.257000	0.24022	0.000000	0.03702	0.003000	0.03518	0.998000	0.29744	-0.283000	0.09115	0.205000	0.17691	GAG		0.483	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		100	529	1	0	1.39345e-63	1	1.75924e-63	100	529					A	58320176	C	A	58320176	3	1	79	1	0	0	0	0	1	0	0	0	18037	680	24	3	771	3	ZNF552	19	58320176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29630	58320176	808807	19866	30183											
ZNF814	730051	broad.mit.edu	37	chr19	58384364	58384364	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcactgcactcataaggCttttctccagtgtgaactct	6	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58384364C>T	ENST00000435989.2	-	3	2628	c.2394G>A	c.(2392-2394)aaG>aaA	p.K798K	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	798					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						ACTCATAAGGCTTTTCTCCAG	0.403																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(2392-2394)aaG>aaA		zinc finger protein 814							81	70	74					19																	58384364		692	1591	2283	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58384364C>T		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.2394G>A	19.37:g.58384364C>T						ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	p.K798K	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	2628	-			798					A6NF35	Silent	SNP	ENST00000435989.2	37	c.2394G>A	CCDS46212.1																																																																																				0.403	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		7	248	0	0	0	1	0	7	248					T	58384364	C	T	58384364	2	4	79	1	0	0	0	0	0	0	0	1	18229	796	28	2		2	ZNF814	19	58384364	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64188	58384364	744619	19867	30184											
ZNF814	730051	broad.mit.edu	37	chr19	58385540	58385540	+	Frame_Shift_Del	DEL	T	T	-													cattctccacattcataatgTtttttgtcagtgtgaactct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58385540delT	ENST00000435989.2	-	3	1452	c.1218delA	c.(1216-1218)aaafs	p.K406fs	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	406					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						ATTCATAATGTTTTTTGTCAG	0.393																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1216-1218)aafs		zinc finger protein 814							113	90	97					19																	58385540		692	1591	2283	SO:0001589	frameshift_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385540delT		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.1218delA	19.37:g.58385540delT	ENSP00000410545:p.Lys406fs					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	p.K406fs	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1452	-			406					A6NF35	Frame_Shift_Del	DEL	ENST00000435989.2	37	c.1218delA	CCDS46212.1																																																																																				0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		7	93						7	93	---	---	---	---	-	58385540	T	-	58385540	7	5	79	1	0	1	0	1	0	0	0	0	18229	1722	60	0	1353	0	ZNF814	19	58385540	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	1176	58385540	743443	19868	30185											
ZNF814	730051	broad.mit.edu	37	chr19	58388344	58388344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtacaggcatctctgagCctcactaaggagattccatt	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58388344C>T	ENST00000435989.2	-	2	337	c.103G>A	c.(103-105)Gct>Act	p.A35T	CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597342.1_Missense_Mutation_p.A64T|ZNF814_ENST00000596604.1_Missense_Mutation_p.A35T|ZNF814_ENST00000597832.1_Missense_Mutation_p.A35T|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Missense_Mutation_p.A35T|ZNF814_ENST00000597807.1_Missense_Mutation_p.A35T	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						CATCTCTGAGCCTCACTAAGG	0.488																																						ENST00000435989.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(103-105)Gct>Act		zinc finger protein 814							205	161	175					19																	58388344		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58388344C>T		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.103G>A	19.37:g.58388344C>T	ENSP00000410545:p.Ala35Thr					CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000597832.1_Missense_Mutation_p.A35T|ZNF814_ENST00000596604.1_Missense_Mutation_p.A35T|ZNF814_ENST00000600634.1_Missense_Mutation_p.A35T|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Missense_Mutation_p.A64T|ZNF814_ENST00000597807.1_Missense_Mutation_p.A35T	p.A35T	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			2	337	-			35			KRAB.		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.103G>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	19.67	3.870316	0.72065	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.02236	4.38	3.35	-2.51	0.06365	Krueppel-associated box (4);	.	.	.	.	T	0.02494	0.0076	L	0.50333	1.59	0.09310	N	1	B	0.24618	0.107	B	0.30316	0.114	T	0.45425	-0.9262	9	0.49607	T	0.09	.	2.8801	0.05645	0.3693:0.3914:0.0:0.2392	.	35	B7Z6K7	ZN814_HUMAN	T	35	ENSP00000410545:A35T	ENSP00000365378:A35T	A	-	1	0	ZNF814	63080156	0.000000	0.05858	0.072000	0.20136	0.828000	0.46876	-0.968000	0.03817	-0.134000	0.11516	0.306000	0.20318	GCT		0.488	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		99	432	0	0	0	1	0	99	432					T	58388344	C	T	58388344	3	4	79	1	0	0	0	0	1	0	0	0	18229	739	26	2	2472	2	ZNF814	19	58388344	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2804	58388344	740639	19869	30186											
ZNF417	147687	broad.mit.edu	37	chr19	58420404	58420404	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatctgtacctaaatgatttCccacattccttgcactcata	4	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58420404C>T	ENST00000312026.5	-	3	1406	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.G413G|ZNF417_ENST00000536263.1_Silent_p.G215G	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TAAATGATTTCCCACATTCCT	0.443																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1240-1242)ggG>ggA		zinc finger protein 417							95	88	91					19																	58420404		2203	4297	6500	SO:0001819	synonymous_variant	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420404C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1242G>A	19.37:g.58420404C>T						CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Silent_p.G413G|ZNF417_ENST00000536263.1_Silent_p.G215G	p.G414G	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1406	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	414					B4DEU1	Silent	SNP	ENST00000312026.5	37	c.1242G>A	CCDS12965.1																																																																																				0.443	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		117	439	0	0	0	1	0	117	439					T	58420404	C	T	58420404	2	4	79	1	0	0	0	0	0	0	0	1	17947	842	30	2		2	ZNF417	19	58420404	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32060	58420404	708579	19870	30187											
ZNF417	147687	broad.mit.edu	37	chr19	58421078	58421078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtcttctctacagcagCtgcttcttggcacaatcctg	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58421078C>T	ENST00000312026.5	-	3	732	c.568G>A	c.(568-570)Gct>Act	p.A190T	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.A189T|ZNF417_ENST00000536263.1_5'UTR	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTACAGCAGCTGCTTCTTGG	0.483																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(568-570)Gct>Act		zinc finger protein 417							143	144	144					19																	58421078		1897	4015	5912	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58421078C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.568G>A	19.37:g.58421078C>T	ENSP00000311319:p.Ala190Thr					CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.A189T|ZNF417_ENST00000536263.1_5'UTR	p.A190T	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	732	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	190					B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	c.568G>A	CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	7.224	0.597895	0.13939	.	.	ENSG00000173480	ENST00000312026	T	0.06068	3.35	1.86	-2.39	0.06602	.	.	.	.	.	T	0.09423	0.0232	L	0.46157	1.445	0.09310	N	0.999999	P;D	0.61080	0.84;0.989	B;P	0.54856	0.393;0.762	T	0.16897	-1.0387	9	0.56958	D	0.05	.	3.2124	0.06687	0.365:0.3849:0.0:0.2501	.	190;190	F5H0M9;Q8TAU3	.;ZN417_HUMAN	T	190	ENSP00000311319:A190T	ENSP00000311319:A190T	A	-	1	0	ZNF417	63112890	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.686000	0.05161	-0.488000	0.06726	0.298000	0.19748	GCT		0.483	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		207	940	0	0	0	1	0	207	940					T	58421078	C	T	58421078	3	4	79	1	0	0	0	0	1	0	0	0	17947	797	28	2	1163	2	ZNF417	19	58421078	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	674	58421078	707905	19871	30188											
ZNF417	147687	broad.mit.edu	37	chr19	58423469	58423469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctagcatcacatcaCggtacaagcacctctgagcc	8	14	4	1	rs142600905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58423469C>T	ENST00000312026.5	-	2	286	c.122G>A	c.(121-123)cGt>cAt	p.R41H	CTD-2583A14.9_ENST00000602124.1_De_novo_Start_OutOfFrame|ZNF417_ENST00000595559.1_Missense_Mutation_p.R40H|ZNF417_ENST00000536263.1_De_novo_Start_OutOfFrame	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	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)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CATCACATCACGGTACAAGCA	0.498																																						ENST00000536263.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18								zinc finger protein 417							69	66	67					19																	58423469		2202	4280	6482	SO:0001583	missense	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58423469C>T	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.122G>A	19.37:g.58423469C>T	ENSP00000311319:p.Arg41His					ZNF417_ENST00000312026.5_Missense_Mutation_p.R41H|CTD-2583A14.9_ENST00000602124.1_De_novo_Start_OutOfFrame|ZNF417_ENST00000595559.1_Missense_Mutation_p.R40H				Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	0	478	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)						B4DEU1	Translation_Start_Site	SNP	ENST00000312026.5	37		CCDS12965.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.253167	0.00268	.	.	ENSG00000173480	ENST00000312026	T	0.02737	4.18	1.9	-3.8	0.04307	Krueppel-associated box (4);	.	.	.	.	T	0.02342	0.0072	L	0.47078	1.49	0.09310	N	0.999999	B;B	0.18968	0.011;0.032	B;B	0.09377	0.001;0.004	T	0.48043	-0.9069	9	0.14656	T	0.56	.	4.6262	0.12479	0.1892:0.5379:0.0:0.2729	.	41;41	F5H0M9;Q8TAU3	.;ZN417_HUMAN	H	41	ENSP00000311319:R41H	ENSP00000311319:R41H	R	-	2	0	ZNF417	63115281	0.000000	0.05858	0.000000	0.03702	0.587000	0.36485	-2.412000	0.01039	-1.352000	0.02194	0.305000	0.20034	CGT		0.498	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		95	374	0	0	0	1	0	95	374					T	58423469	C	T	58423469	3	4	79	1	0	0	0	0	1	0	0	0	17947	536	19	1	1613	1	ZNF417	19	58423469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2391	58423469	705514	19872	30189											
ZNF256	10172	broad.mit.edu	37	chr19	58452630	58452630	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attgcactcataaggcctttCtccagtgtgaactctctggt	8	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58452630C>A	ENST00000282308.3	-	3	1742	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	516					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)		TAAGGCCTTTCTCCAGTGTGA	0.463																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1546-1548)Gaa>Taa		zinc finger protein 256							82	77	79					19																	58452630		2203	4300	6503	SO:0001587	stop_gained	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452630C>A	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.1546G>T	19.37:g.58452630C>A	ENSP00000282308:p.Glu516*					ZNF256_ENST00000598928.1_3'UTR	p.E516*	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1742	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	516					B2RA92|Q53Y85|Q9BV71	Nonsense_Mutation	SNP	ENST00000282308.3	37	c.1546G>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	39	7.808358	0.98501	.	.	ENSG00000152454	ENST00000282308	.	.	.	2.66	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4272	0.32735	0.0:0.8724:0.0:0.1276	.	.	.	.	X	516	.	ENSP00000282308:E516X	E	-	1	0	ZNF256	63144442	0.000000	0.05858	0.006000	0.13384	0.969000	0.65631	0.933000	0.28897	0.434000	0.26340	0.467000	0.42956	GAA		0.463	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			57	348	1	0	5.99346e-17	1	6.60109e-17	57	348					A	58452630	C	A	58452630	4	1	79	1	0	0	0	0	0	1	0	0	17852	922	32	3	341	3	ZNF256	19	58452630	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29161	58452630	676353	19873	30190											
C19orf18	147685	broad.mit.edu	37	chr19	58470038	58470038	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttctgttactgagttttgctCttccttcagtttcttcttaa	5	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58470038C>A	ENST00000314391.3	-	6	681	c.580G>T	c.(580-582)Gag>Tag	p.E194*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	194						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GAGTTTTGCTCTTCCTTCAGT	0.338																																						ENST00000314391.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.(580-582)Gag>Tag		chromosome 19 open reading frame 18							65	61	63					19																	58470038		2202	4300	6502	SO:0001587	stop_gained	147685					integral to membrane		g.chr19:58470038C>A	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.580G>T	19.37:g.58470038C>A	ENSP00000321519:p.Glu194*						p.E194*	NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	6	681	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	194						Nonsense_Mutation	SNP	ENST00000314391.3	37	c.580G>T	CCDS12967.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433390	0.25813	.	.	ENSG00000177025	ENST00000314391	.	.	.	3.14	-1.56	0.08532	.	.	.	.	.	.	.	.	.	.	.	0.36516	D	0.869866	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-40.216	3.3469	0.07139	0.0:0.4199:0.2063:0.3738	.	.	.	.	X	194	.	ENSP00000321519:E194X	E	-	1	0	C19orf18	63161850	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.002000	0.13061	-0.193000	0.10415	-0.350000	0.07774	GAG		0.338	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474		15	124	1	0	2.23348e-06	1	2.30073e-06	15	124					A	58470038	C	A	58470038	4	1	79	1	0	0	0	0	0	1	0	0	1917	922	32	3	71	3	C19orf18	19	58470038	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17408	58470038	658945	19874	30191											
C19orf18	147685	broad.mit.edu	37	chr19	58477896	58477896	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atattacttagcagatacttActatatcatataggagattg	6	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58477896A>G	ENST00000314391.3	-	4	473		c.e4+1			NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GCAGATACTTACTATATCATA	0.338																																						ENST00000314391.3																			0				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8						c.e4+1		chromosome 19 open reading frame 18							59	60	60					19																	58477896		2203	4300	6503	SO:0001630	splice_region_variant	147685					integral to membrane		g.chr19:58477896A>G	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.371+1T>C	19.37:g.58477896A>G								NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)	4	473	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)							Splice_Site	SNP	ENST00000314391.3	37		CCDS12967.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851034	0.51270	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8207	0.40880	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf18	63169708	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	3.327000	0.52045	2.078000	0.62432	0.524000	0.50904	.		0.338	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466704.1	NM_152474	Intron	21	111	0	0	0	1	0	21	111					G	58477896	A	G	58477896	5	3	79	1	0	0	0	0	0	0	1	0	1917	405	14	4	286	4	C19orf18	19	58477896	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7858	58477896	651087	19875	30192											
ZNF606	80095	broad.mit.edu	37	chr19	58490209	58490209	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatgaattatctcatgTttagtgagggctgagcgttc	11	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490209T>C	ENST00000341164.4	-	7	2459	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF606_ENST00000536132.1_Silent_p.K523K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTATCTCATGTTTAGTGAGGG	0.423																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1837-1839)aaA>aaG		zinc finger protein 606							90	90	90					19																	58490209		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490209T>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1839A>G	19.37:g.58490209T>C						ZNF606_ENST00000536132.1_Silent_p.K523K	p.K613K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2459	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	613					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.1839A>G	CCDS12968.1																																																																																				0.423	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		100	427	0	0	0	1	0	100	427					C	58490209	T	C	58490209	2	2	79	1	0	0	0	0	0	0	0	1	18085	1722	60	4		4	ZNF606	19	58490209	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	12313	58490209	638774	19876	30193											
ZNF606	80095	broad.mit.edu	37	chr19	58490360	58490360	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atttatatggttttgctccaGaatgagttctttcatgttta	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490360G>T	ENST00000341164.4	-	7	2308	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	563					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)	p.S563Y(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTGCTCCAGAATGAGTTCT	0.398																																						ENST00000341164.4																			2	Substitution - Missense(2)	p.S563Y(2)	large_intestine(2)	NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1687-1689)tCt>tAt		zinc finger protein 606							66	66	66					19																	58490360		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490360G>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1688C>A	19.37:g.58490360G>T	ENSP00000343617:p.Ser563Tyr					ZNF606_ENST00000536132.1_Missense_Mutation_p.S473Y	p.S563Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2308	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	563					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1688C>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561739	0.45590	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.19938	2.11;2.11	4.71	4.71	0.59529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.299887	0.24513	N	0.037875	T	0.35098	0.0920	L	0.43923	1.385	0.33955	D	0.64489	D	0.71674	0.998	D	0.66196	0.942	T	0.45469	-0.9259	10	0.87932	D	0	.	12.0649	0.53581	0.0:0.0:0.8273:0.1727	.	563	Q8WXB4	ZN606_HUMAN	Y	563;473	ENSP00000343617:S563Y;ENSP00000445624:S473Y	ENSP00000343617:S563Y	S	-	2	0	ZNF606	63182172	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.571000	0.53841	2.597000	0.87782	0.561000	0.74099	TCT		0.398	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		92	278	1	0	4.08182e-41	1	4.95533e-41	92	278					T	58490360	G	T	58490360	3	4	79	1	0	0	0	0	1	0	0	0	18085	942	33	3	694	3	ZNF606	19	58490360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	151	58490360	638623	19877	30194											
ZNF606	80095	broad.mit.edu	37	chr19	58490962	58490962	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctacagtaccaattttttgAtgttccataaaggatgagaa	7	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490962A>G	ENST00000341164.4	-	7	1706	c.1086T>C	c.(1084-1086)caT>caC	p.H362H	ZNF606_ENST00000536132.1_Silent_p.H272H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAATTTTTTGATGTTCCATAA	0.343																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1084-1086)caT>caC		zinc finger protein 606							105	93	97					19																	58490962		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490962A>G	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1086T>C	19.37:g.58490962A>G						ZNF606_ENST00000536132.1_Silent_p.H272H	p.H362H	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1706	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	362					A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.1086T>C	CCDS12968.1																																																																																				0.343	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		111	399	0	0	0	1	0	111	399					G	58490962	A	G	58490962	2	3	79	1	0	0	0	0	0	0	0	1	18085	330	12	4		4	ZNF606	19	58490962	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	602	58490962	638021	19878	30195											
ZNF606	80095	broad.mit.edu	37	chr19	58500015	58500015	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcacatcacggtacagggtCctctgaacaaggtccagctg	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58500015C>T	ENST00000341164.4	-	5	872	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_ENST00000552579.1_5'Flank|ZNF606_ENST00000536132.1_5'UTR	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGTACAGGGTCCTCTGAACAA	0.537																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(250-252)agG>agA		zinc finger protein 606							213	190	198					19																	58500015		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58500015C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.252G>A	19.37:g.58500015C>T						ZNF606_ENST00000536132.1_5'UTR	p.R84R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	5	872	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	84			KRAB.		A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.252G>A	CCDS12968.1																																																																																				0.537	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		199	927	0	0	0	1	0	199	927					T	58500015	C	T	58500015	2	4	79	1	0	0	0	0	0	0	0	1	18085	854	30	2		2	ZNF606	19	58500015	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9053	58500015	628968	19879	30196											
ZSCAN1	284312	broad.mit.edu	37	chr19	58551856	58551856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgaaccccaggactggAgtttcggtgaggaggaagat	16	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58551856A>G	ENST00000282326.1	+	4	656	c.409A>G	c.(409-411)Agt>Ggt	p.S137G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	137					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)		CCAGGACTGGAGTTTCGGTGA	0.617																																						ENST00000282326.1																			0				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						c.(409-411)Agt>Ggt		zinc finger and SCAN domain containing 1							114	123	120					19																	58551856		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58551856A>G	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.409A>G	19.37:g.58551856A>G	ENSP00000282326:p.Ser137Gly						p.S137G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	4	656	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	137					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.409A>G	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605295	0.03717	.	.	ENSG00000152467	ENST00000282326	T	0.04360	3.64	1.09	-0.0961	0.13638	Transcription regulator SCAN (1);	.	.	.	.	T	0.02970	0.0088	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.44483	-0.9325	9	0.39692	T	0.17	.	3.2733	0.06889	0.7278:0.0:0.2722:0.0	.	137	Q8NBB4	ZSCA1_HUMAN	G	137	ENSP00000282326:S137G	ENSP00000282326:S137G	S	+	1	0	ZSCAN1	63243668	0.005000	0.15991	0.061000	0.19648	0.948000	0.59901	0.294000	0.19047	-0.098000	0.12285	0.260000	0.18958	AGT		0.617	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		70	898	0	0	0	1	0	70	898					G	58551856	A	G	58551856	3	3	79	1	0	0	0	0	1	0	0	0	18279	304	11	4	415	4	ZSCAN1	19	58551856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51841	58551856	577127	19880	30197											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565026	58565026	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaagaggctgttgcaggCatctcggtagtgccgcgtgg	15	11	1	1	rs542464502		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58565026C>T	ENST00000282326.1	+	6	1081	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	278					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)		CTGTTGCAGGCATCTCGGTAG	0.622																																						ENST00000282326.1																			0				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						c.(832-834)ggC>ggT		zinc finger and SCAN domain containing 1							69	70	69					19																	58565026		2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565026C>T	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.834C>T	19.37:g.58565026C>T							p.G278G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1081	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	278					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.834C>T	CCDS12969.1																																																																																				0.622	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		32	363	0	0	0	1	0	32	363					T	58565026	C	T	58565026	2	4	79	1	0	0	0	0	0	0	0	1	18279	697	25	2		2	ZSCAN1	19	58565026	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13170	58565026	563957	19881	30198											
ZNF135	7694	broad.mit.edu	37	chr19	58578888	58578888	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacctcacccagcatctgCgaatccacactggggagaaa	8	15	2	1	rs144688815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58578888C>T	ENST00000313434.5	+	5	1137	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.R304*|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	346					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)		CCAGCATCTGCGAATCCACAC	0.572																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(910-912)Cga>Tga		zinc finger protein 135		C	,stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51	44	46		,1072,1072,1108	-0.7	0.7	19	dbSNP_134	46	0,8600		0,0,4300	no	utr-3,stop-gained,stop-gained,stop-gained	ZNF135	NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,358/391,358/671,370/683	58578888	1,13005	2203	4300	6503	SO:0001587	stop_gained	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58578888C>T	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.1036C>T	19.37:g.58578888C>T	ENSP00000321406:p.Arg346*					ZNF135_ENST00000359978.6_Nonsense_Mutation_p.R358*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.R346*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.R370*|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.R358*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.R346*	p.R304*			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1464	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	358					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_Mutation	SNP	ENST00000313434.5	37	c.910C>T		.	.	.	.	.	.	.	.	.	.	C	12.54	1.968279	0.34754	2.27E-4	0.0	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.19	-0.696	0.11287	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2145	0.01911	0.4005:0.3059:0.1603:0.1332	.	.	.	.	X	358;370;358;346;346;358;304	.	ENSP00000321406:R346X	R	+	1	2	ZNF135	63270700	0.000000	0.05858	0.659000	0.29680	0.005000	0.04900	-0.827000	0.04424	0.167000	0.19631	-0.302000	0.09304	CGA		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		45	212	0	0	0	1	0	45	212					T	58578888	C	T	58578888	4	4	79	1	0	0	0	0	0	1	0	0	17778	760	27	1	1239	1	ZNF135	19	58578888	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13862	58578888	550095	19882	30199											
ZNF135	7694	broad.mit.edu	37	chr19	58579766	58579766	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagccatatgcatgcagggaCtgtggaaaggcctttaccca	11	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579766C>A	ENST00000313434.5	+	5	2015	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|ZNF135_ENST00000506786.1_Missense_Mutation_p.D596E|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	638					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)		CATGCAGGGACTGTGGAAAGG	0.537																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1786-1788)gaC>gaA		zinc finger protein 135							94	83	87					19																	58579766		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579766C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1914C>A	19.37:g.58579766C>A	ENSP00000321406:p.Asp638Glu					ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.D638E|ZNF135_ENST00000401053.4_Missense_Mutation_p.D662E|ZNF135_ENST00000511556.1_Missense_Mutation_p.D650E|ZNF135_ENST00000313434.5_Missense_Mutation_p.D638E	p.D596E			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	2342	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	650					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1788C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-3.152853|-3.152853	0.00028|0.00028	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000504540;ENST00000391699	T;T;T;T;T|.	0.07327|.	3.2;3.2;3.2;3.2;3.2|.	3.37|3.37	-0.525|-0.525	0.11917|0.11917	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.12263|0.12263	0.0298|0.0298	N|N	0.02674|0.02674	-0.535|-0.535	0.09310|0.09310	N|N	1|1	B;B|.	0.18610|.	0.0;0.029|.	B;B|.	0.21917|.	0.002;0.037|.	T|T	0.31530|0.31530	-0.9940|-0.9940	9|5	0.02654|.	T|.	1|.	.|.	7.2472|7.2472	0.26129|0.26129	0.5826:0.2715:0.1459:0.0|0.5826:0.2715:0.1459:0.0	.|.	650;638|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	E|N	662;638;638;650;596|370;656	ENSP00000441410:D662E;ENSP00000444828:D638E;ENSP00000321406:D638E;ENSP00000422074:D650E;ENSP00000427691:D596E|.	ENSP00000321406:D638E|.	D|T	+|+	3|2	2|0	ZNF135|ZNF135	63271578|63271578	0.000000|0.000000	0.05858|0.05858	0.797000|0.797000	0.32132|0.32132	0.014000|0.014000	0.08584|0.08584	-1.110000|-1.110000	0.03306|0.03306	0.237000|0.237000	0.21200|0.21200	-1.399000|-1.399000	0.01144|0.01144	GAC|ACT		0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		82	320	1	0	1.04643e-32	1	1.23697e-32	82	320					A	58579766	C	A	58579766	3	1	79	1	0	0	0	0	1	0	0	0	17778	564	20	3	2117	3	ZNF135	19	58579766	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	878	58579766	549217	19883	30200											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596628	58596628	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctcagtggtgccCgacgggggatcggcaagggc	15	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58596628C>T	ENST00000240727.6	-	7	1356	c.957G>A	c.(955-957)tcG>tcA	p.S319S	ZSCAN18_ENST00000421612.2_Silent_p.S183S|ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000601144.1_Silent_p.S319S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	319					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)		CAGTGGTGCCCGACGGGGGAT	0.741																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(955-957)tcG>tcA		zinc finger and SCAN domain containing 18							9	12	11					19																	58596628		2099	4138	6237	SO:0001819	synonymous_variant	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596628C>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.957G>A	19.37:g.58596628C>T						ZSCAN18_ENST00000601144.1_Silent_p.S319S|ZSCAN18_ENST00000600404.1_Silent_p.S375S|ZSCAN18_ENST00000421612.2_Silent_p.S183S	p.S319S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1356	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	319					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	ENST00000240727.6	37	c.957G>A	CCDS12971.1																																																																																				0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		16	154	0	0	0	1	0	16	154					T	58596628	C	T	58596628	2	4	79	1	0	0	0	0	0	0	0	1	18283	639	23	1		1	ZSCAN18	19	58596628	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16862	58596628	532355	19884	30201											
ZNF329	79673	broad.mit.edu	37	chr19	58639295	58639295	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctctttgatgtcgaacaaGggatgagctcttttggaaca	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639295G>T	ENST00000598312.1	-	4	1809	c.1576C>A	c.(1576-1578)Ctt>Att	p.L526I	ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	526					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)		TGTCGAACAAGGGATGAGCTC	0.512																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(1576-1578)Ctt>Att		zinc finger protein 329							189	165	173					19																	58639295		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639295G>T	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.1576C>A	19.37:g.58639295G>T	ENSP00000470008:p.Leu526Ile					ZNF329_ENST00000358067.4_Missense_Mutation_p.L526I	p.L526I	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1809	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	526					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1576C>A	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.479140	0.44044	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.74947	-0.89;-0.89	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34828	N	0.003647	D	0.86855	0.6033	M	0.90650	3.135	0.21984	N	0.999434	D	0.76494	0.999	D	0.81914	0.995	T	0.78846	-0.2043	10	0.87932	D	0	-12.963	10.724	0.46057	0.0923:0.0:0.9077:0.0	.	526	Q86UD4	ZN329_HUMAN	I	526	ENSP00000350773:L526I;ENSP00000439527:L526I	ENSP00000350773:L526I	L	-	1	0	ZNF329	63331107	1.000000	0.71417	0.886000	0.34754	0.354000	0.29330	4.611000	0.61162	2.717000	0.92951	0.655000	0.94253	CTT		0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		105	519	1	0	6.51881e-58	1	8.16781e-58	105	519					T	58639295	G	T	58639295	3	4	79	1	0	0	0	0	1	0	0	0	17900	1000	35	3	53	3	ZNF329	19	58639295	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42667	58639295	489688	19885	30202											
ZNF329	79673	broad.mit.edu	37	chr19	58639933	58639933	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	attcgttacatctatatggtTtttcccctgtatgagttctt	6	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639933T>G	ENST00000598312.1	-	4	1171	c.938A>C	c.(937-939)aAa>aCa	p.K313T	ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	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)			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)		TCTATATGGTTTTTCCCCTGT	0.438																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(937-939)aAa>aCa		zinc finger protein 329							135	133	134					19																	58639933		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639933T>G	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.938A>C	19.37:g.58639933T>G	ENSP00000470008:p.Lys313Thr					ZNF329_ENST00000358067.4_Missense_Mutation_p.K313T	p.K313T	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1171	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	313					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.938A>C	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654379	0.47467	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.24908	1.83;1.83	4.01	4.01	0.46588	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.42108	0.1188	M	0.76170	2.325	0.46927	D	0.999254	D	0.59357	0.985	P	0.59171	0.853	T	0.39014	-0.9634	10	0.87932	D	0	-22.8886	7.6583	0.28388	0.0:0.0986:0.0:0.9014	.	313	Q86UD4	ZN329_HUMAN	T	313	ENSP00000350773:K313T;ENSP00000439527:K313T	ENSP00000350773:K313T	K	-	2	0	ZNF329	63331745	0.294000	0.24380	0.999000	0.59377	0.886000	0.51366	0.900000	0.28431	2.055000	0.61198	0.533000	0.62120	AAA		0.438	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		127	467	0	0	0	1	0	127	467					G	58639933	T	G	58639933	3	3	79	1	0	0	0	0	1	0	0	0	17900	1841	64	4	691	4	ZNF329	19	58639933	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	638	58639933	489050	19886	30203											
ZNF329	79673	broad.mit.edu	37	chr19	58640736	58640736	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgattgcctcaagtgTccctcctggttctcacagtc	8	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58640736T>C	ENST00000598312.1	-	4	368	c.135A>G	c.(133-135)ggA>ggG	p.G45G	ZNF329_ENST00000358067.4_Silent_p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	45					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)		GCCTCAAGTGTCCCTCCTGGT	0.473																																						ENST00000598312.1																			0				NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20						c.(133-135)ggA>ggG		zinc finger protein 329							161	149	153					19																	58640736		2203	4300	6503	SO:0001819	synonymous_variant	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58640736T>C	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.135A>G	19.37:g.58640736T>C						ZNF329_ENST00000358067.4_Silent_p.G45G	p.G45G	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	368	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	45					B3KR32|Q9H9R7	Silent	SNP	ENST00000598312.1	37	c.135A>G	CCDS12972.1																																																																																				0.473	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		113	571	0	0	0	1	0	113	571					C	58640736	T	C	58640736	2	2	79	1	0	0	0	0	0	0	0	1	17900	1654	58	4		4	ZNF329	19	58640736	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	803	58640736	488247	19887	30204											
ZNF274	10782	broad.mit.edu	37	chr19	58718468	58718468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagttcctaggtgcactGcctgtgaagctccggacatg	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58718468G>A	ENST00000326804.4	+	6	1095	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L180L|ZNF274_ENST00000424679.2_Silent_p.L107L	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	213	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.			A -> T (in Ref. 2; AAG24390). {ECO:0000305}.	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)		TAGGTGCACTGCCTGTGAAGC	0.602																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(634-636)ctG>ctA		zinc finger protein 274							30	32	31					19																	58718468		2203	4300	6503	SO:0001819	synonymous_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58718468G>A	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.636G>A	19.37:g.58718468G>A						ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Silent_p.L107L|ZNF274_ENST00000345813.3_Silent_p.L180L	p.L212L	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	6	1095	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	213	A -> T (in Ref. 2; AAG24390).		SCAN box.		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	ENST00000326804.4	37	c.636G>A																																																																																					0.602	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		17	95	0	0	0	1	0	17	95					A	58718468	G	A	58718468	2	1	79	1	0	0	0	0	0	0	0	1	17862	1319	46	2		2	ZNF274	19	58718468	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77732	58718468	410515	19888	30205											
ZNF274	10782	broad.mit.edu	37	chr19	58723727	58723727	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtctgctcaggaaaaagacCttcctcagaagaagcacttt	8	10	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58723727C>A	ENST00000326804.4	+	9	1636	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	394					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)		GGAAAAAGACCTTCCTCAGAA	0.488																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.(1177-1179)Ctt>Att		zinc finger protein 274							82	82	82					19																	58723727		2031	4189	6220	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723727C>A	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.1177C>A	19.37:g.58723727C>A	ENSP00000321209:p.Leu393Ile					ZNF274_ENST00000424679.2_Missense_Mutation_p.L288I|ZNF274_ENST00000345813.3_Missense_Mutation_p.L361I|ZNF274_ENST00000597818.1_3'UTR	p.L393I	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	9	1636	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	394					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1177C>A		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160475	0.38119	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07327	3.34;3.21;3.2	4.71	2.5	0.30297	.	0.803124	0.10301	N	0.691197	T	0.05686	0.0149	.	.	.	0.09310	N	1	B;B;B	0.20780	0.021;0.048;0.028	B;B;B	0.18561	0.013;0.022;0.01	T	0.43475	-0.9389	9	0.24483	T	0.36	-2.4602	7.8969	0.29712	0.1834:0.6397:0.1769:0.0	.	289;362;394	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	I	393;361;288	ENSP00000321209:L393I;ENSP00000321187:L361I;ENSP00000409872:L288I	ENSP00000321209:L393I	L	+	1	0	ZNF274	63415539	0.000000	0.05858	0.005000	0.12908	0.140000	0.21249	0.499000	0.22546	0.675000	0.31264	0.561000	0.74099	CTT		0.488	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		48	200	1	0	1.21353e-23	1	1.38083e-23	48	200					A	58723727	C	A	58723727	3	1	79	1	0	0	0	0	1	0	0	0	17862	681	24	3	1205	3	ZNF274	19	58723727	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5259	58723727	405256	19889	30206											
ZNF544	27300	broad.mit.edu	37	chr19	58757770	58757770	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgagaggtgacactggagaCctgggagcatattgtctccc	13	11	1	3	rs150558952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58757770C>A	ENST00000596652.1	+	4	371	c.137C>A	c.(136-138)aCc>aAc	p.T46N	ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_De_novo_Start_OutOfFrame|ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000596597.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	46	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(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)		ACACTGGAGACCTGGGAGCAT	0.552																																						ENST00000599953.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18								zinc finger protein 544							130	117	121					19																	58757770		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58757770C>A	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.137C>A	19.37:g.58757770C>A	ENSP00000469635:p.Thr46Asn					ZNF544_ENST00000269829.4_Missense_Mutation_p.T46N|ZNF544_ENST00000333581.5_Missense_Mutation_p.T46N|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.T46N|ZNF544_ENST00000600044.1_Missense_Mutation_p.T46N|ZNF544_ENST00000599227.1_Missense_Mutation_p.T46N|ZNF544_ENST00000595981.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596929.1_Missense_Mutation_p.T46N|ZNF544_ENST00000594384.1_Missense_Mutation_p.T46N|ZNF544_ENST00000600220.1_Missense_Mutation_p.T46N|ZNF544_ENST00000596825.1_Missense_Mutation_p.T46N				Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	0	96	+		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)						A8K6J1|Q9UEX4	Translation_Start_Site	SNP	ENST00000596652.1	37		CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.662	-0.805240	0.02819	.	.	ENSG00000198131	ENST00000269829;ENST00000333581;ENST00000415203	T;T;T	0.01068	5.38;5.38;5.38	2.36	-1.81	0.07882	Krueppel-associated box (4);	.	.	.	.	T	0.00552	0.0018	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.15141	0.012;0.012;0.012	B;B;B	0.18561	0.022;0.022;0.022	T	0.46289	-0.9202	9	0.02654	T	1	.	4.3261	0.11041	0.3749:0.493:0.0:0.1321	.	46;46;46	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	N	46	ENSP00000269829:T46N;ENSP00000329320:T46N;ENSP00000394341:T46N	ENSP00000269829:T46N	T	+	2	0	ZNF544	63449582	0.206000	0.23470	0.004000	0.12327	0.001000	0.01503	0.209000	0.17435	-0.038000	0.13624	-0.492000	0.04666	ACC		0.552	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		88	455	1	0	1.13027e-35	1	1.35034e-35	88	455					A	58757770	C	A	58757770	3	1	79	1	0	0	0	0	1	0	0	0	18030	507	18	3	143	3	ZNF544	19	58757770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34043	58757770	371213	19890	30207											
ZNF544	27300	broad.mit.edu	37	chr19	58773074	58773074	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatctttcagctgttgtaagCtcatacaccagagaacacac	6	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773074C>A	ENST00000596652.1	+	6	1336	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|ZNF544_ENST00000269829.4_Missense_Mutation_p.L368I|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	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)|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)		CTGTTGTAAGCTCATACACCA	0.438																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1102-1104)Ctc>Atc		zinc finger protein 544							85	81	82					19																	58773074		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773074C>A	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.1102C>A	19.37:g.58773074C>A	ENSP00000469635:p.Leu368Ile					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.L340I|ZNF544_ENST00000600044.1_Missense_Mutation_p.L340I|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.L368I|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.L226I|ZNF544_ENST00000600220.1_Missense_Mutation_p.L340I|ZNF544_ENST00000596825.1_3'UTR	p.L368I	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1576	+		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)	368					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1102C>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.364951	0.01235	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.15139	2.45;2.45	2.54	1.4	0.22301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.03253	-0.375	0.19300	N	0.999974	B;B;B	0.30542	0.215;0.017;0.284	B;B;B	0.22880	0.042;0.005;0.018	T	0.40098	-0.9581	9	0.10377	T	0.69	.	5.7326	0.18049	0.0:0.8304:0.0:0.1696	.	340;340;368	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	I	368;340;32	ENSP00000269829:L368I;ENSP00000394341:L340I	ENSP00000269829:L368I	L	+	1	0	ZNF544	63464886	0.000000	0.05858	0.012000	0.15200	0.191000	0.23601	-0.664000	0.05292	0.355000	0.24131	0.491000	0.48974	CTC		0.438	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		57	294	1	0	2.30037e-20	1	2.57709e-20	57	294					A	58773074	C	A	58773074	3	1	79	1	0	0	0	0	1	0	0	0	18030	797	28	3	1116	3	ZNF544	19	58773074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15304	58773074	355909	19891	30208											
ZNF544	27300	broad.mit.edu	37	chr19	58773509	58773509	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	accttgttgtacatcagaggAcacacactggagagaagccc	10	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773509A>G	ENST00000596652.1	+	6	1771	c.1537A>G	c.(1537-1539)Aca>Gca	p.T513A	ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|ZNF544_ENST00000269829.4_Missense_Mutation_p.T513A|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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)		ACATCAGAGGACACACACTGG	0.438																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1537-1539)Aca>Gca		zinc finger protein 544							79	81	80					19																	58773509		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773509A>G	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.1537A>G	19.37:g.58773509A>G	ENSP00000469635:p.Thr513Ala					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.T485A|ZNF544_ENST00000600044.1_Missense_Mutation_p.T485A|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596652.1_Missense_Mutation_p.T513A|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T371A|ZNF544_ENST00000600220.1_Missense_Mutation_p.T485A|ZNF544_ENST00000596825.1_3'UTR	p.T513A	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2011	+		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)	513					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1537A>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	A	9.323	1.058531	0.19987	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.11930	2.73;2.73	2.8	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11067	0.0270	L	0.42744	1.35	0.09310	N	1	B;B;B	0.25772	0.077;0.134;0.033	B;B;B	0.25140	0.03;0.058;0.015	T	0.32428	-0.9907	9	0.72032	D	0.01	.	3.3834	0.07262	0.6747:0.0:0.1213:0.2041	.	485;485;513	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	A	513;485	ENSP00000269829:T513A;ENSP00000394341:T485A	ENSP00000269829:T513A	T	+	1	0	ZNF544	63465321	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.558000	0.23469	0.295000	0.22570	0.421000	0.28195	ACA		0.438	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		79	322	0	0	0	1	0	79	322					G	58773509	A	G	58773509	3	3	79	1	0	0	0	0	1	0	0	0	18030	275	10	4	1551	4	ZNF544	19	58773509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	435	58773509	355474	19892	30209											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850414	58850414	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctgactcaacaccagCgcatccacaccggggagaag	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58850414C>T	ENST00000329665.4	+	3	1345	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	400					transcription, DNA-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(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TCAACACCAGCGCATCCACAC	0.632																																						ENST00000329665.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(1198-1200)Cgc>Tgc		zinc finger and SCAN domain containing 22							79	73	75					19																	58850414		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850414C>T	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"-", "Zinc fingers, C2H2-type"	4929	protein-coding gene	gene with protein product	"oncogene HKR2"	165260	"zinc finger protein 50", "GLI-Kruppel family member HKR2"	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.1198C>T	19.37:g.58850414C>T	ENSP00000332433:p.Arg400Cys						p.R400C	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1345	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	400					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.1198C>T	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087477	0.36855	.	.	ENSG00000182318	ENST00000329665	T	0.25749	1.78	4.06	-2.92	0.05615	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46946	0.1419	M	0.89904	3.07	0.41325	D	0.987202	D	0.89917	1.0	D	0.73380	0.98	T	0.54984	-0.8211	9	0.87932	D	0	.	3.2415	0.06782	0.5382:0.2312:0.1359:0.0948	.	400	P10073	ZSC22_HUMAN	C	400	ENSP00000332433:R400C	ENSP00000332433:R400C	R	+	1	0	ZSCAN22	63542226	0.000000	0.05858	0.563000	0.28383	0.018000	0.09664	-4.341000	0.00250	-0.151000	0.11176	-0.311000	0.09066	CGC		0.632	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		61	392	0	0	0	1	0	61	392					T	58850414	C	T	58850414	3	4	79	1	0	0	0	0	1	0	0	0	18287	768	27	1	1204	1	ZSCAN22	19	58850414	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76905	58850414	278569	19893	30210											
A1BG	1	broad.mit.edu	37	chr19	58864689	58864689	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgtcactgggccccaggtGacacctgcggagacagcccc	12	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864689G>A	ENST00000263100.3	-	2	100	c.39C>T	c.(37-39)gtC>gtT	p.V13V	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	13						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCCCCAGGTGACACCTGCGG	0.677																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(37-39)gtC>gtT		alpha-1-B glycoprotein							31	33	32					19																	58864689		2198	4297	6495	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58864689G>A		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.39C>T	19.37:g.58864689G>A						A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.V13V	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	2	100	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	13					A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.39C>T	CCDS12976.1																																																																																				0.677	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		25	83	0	0	0	1	0	25	83					A	58864689	G	A	58864689	2	1	79	1	0	0	0	0	0	0	0	1	1	1277	45	2		2	A1BG	19	58864689	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14275	58864689	264294	19894	30211											
A1BG	1	broad.mit.edu	37	chr19	58864788	58864788	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccacagcaagagaaagaCcacgagcatggacatgatgg	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864788C>T	ENST00000263100.3	-	1	77	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	6						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAGAAAGACCACGAGCATG	0.667																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(16-18)Gtc>Atc		alpha-1-B glycoprotein							50	53	52					19																	58864788		2202	4300	6502	SO:0001583	missense	1					extracellular region		g.chr19:58864788C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.16G>A	19.37:g.58864788C>T	ENSP00000263100:p.Val6Ile					A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	p.V6I	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	1	77	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	6					A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.16G>A	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	4.265	0.048324	0.08243	.	.	ENSG00000121410	ENST00000263100	T	0.00534	6.74	3.25	-0.496	0.12027	.	2.038350	0.02702	N	0.111919	T	0.00412	0.0013	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.44159	-0.9346	10	0.22706	T	0.39	.	8.6177	0.33842	0.6089:0.3911:0.0:0.0	.	6	P04217	A1BG_HUMAN	I	6	ENSP00000263100:V6I	ENSP00000263100:V6I	V	-	1	0	A1BG	63556600	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.180000	0.16860	0.002000	0.14630	-0.309000	0.09137	GTC		0.667	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		12	81	0	0	0	1	0	12	81					T	58864788	C	T	58864788	3	4	79	1	0	0	0	0	1	0	0	0	1	507	18	2	1503	2	A1BG	19	58864788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99	58864788	264195	19895	30212											
ZNF497	162968	broad.mit.edu	37	chr19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttaagagctccgacttgcGcacgaaggccttgctgcagt	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(1357-1359)Cgc>Tgc		zinc finger protein 497							12	14	14					19																	58867645		2197	4297	6494	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867645G>A	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1357C>T	19.37:g.58867645G>A	ENSP00000311183:p.Arg453Cys					ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|CTD-2619J13.8_ENST00000599109.1_RNA	p.R453C	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1545	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	453					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.1357C>T	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778249	0.49786	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.30182	1.54;1.54	1.14	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35740	0.0942	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21861	-1.0233	9	0.54805	T	0.06	.	1.8909	0.03247	0.1423:0.1924:0.4699:0.1954	.	453	Q6ZNH5	ZN497_HUMAN	C	453	ENSP00000311183:R453C;ENSP00000402815:R453C	ENSP00000311183:R453C	R	-	1	0	ZNF497	63559457	0.000000	0.05858	0.005000	0.12908	0.374000	0.29953	-1.391000	0.02525	-1.225000	0.02578	0.195000	0.17529	CGC		0.682	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		11	59	0	0	0	1	0	11	59					A	58867645	G	A	58867645	3	1	79	1	0	0	0	0	1	0	0	0	17999	1087	38	1	143	1	ZNF497	19	58867645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2857	58867645	261338	19896	30213											
ZNF497	162968	broad.mit.edu	37	chr19	58868179	58868179	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgccgcagtcgggacaggCgtgtggccgtgcgcccgcgt	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58868179C>T	ENST00000311044.3	-	3	1011	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	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)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCGGGACAGGCGTGTGGCCGT	0.736																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(823-825)Gcc>Acc		zinc finger protein 497							7	8	8					19																	58868179		2165	4245	6410	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58868179C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.823G>A	19.37:g.58868179C>T	ENSP00000311183:p.Ala275Thr					ZNF497_ENST00000425453.3_Missense_Mutation_p.A275T|CTD-2619J13.8_ENST00000599109.1_RNA	p.A275T	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1011	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	275					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.823G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753174	0.31046	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.16073	2.37;2.37	1.23	-0.0606	0.13788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.03084	-0.415	0.09310	N	1	P	0.36222	0.544	B	0.23574	0.047	T	0.28522	-1.0041	9	0.54805	T	0.06	.	2.3078	0.04178	0.0:0.328:0.3019:0.3701	.	275	Q6ZNH5	ZN497_HUMAN	T	275	ENSP00000311183:A275T;ENSP00000402815:A275T	ENSP00000311183:A275T	A	-	1	0	ZNF497	63559991	0.000000	0.05858	0.001000	0.08648	0.454000	0.32378	-2.470000	0.00991	0.026000	0.15269	0.205000	0.17691	GCC		0.736	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		4	44	0	0	0	1	0	4	44					T	58868179	C	T	58868179	3	4	79	1	0	0	0	0	1	0	0	0	17999	768	27	1	677	1	ZNF497	19	58868179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	534	58868179	260804	19897	30214											
ZNF132	7691	broad.mit.edu	37	chr19	58945235	58945235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatcaggctggagctgcGgctgaaggatttcctacatt	12	9	1	2	rs142712450		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945235G>A	ENST00000254166.3	-	3	1976	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		CTGGAGCTGCGGCTGAAGGAT	0.498																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1576-1578)Cgc>Tgc		zinc finger protein 132		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77	78	78		1576	1.4	0.9	19	dbSNP_134	78	0,8600		0,0,4300	no	missense	ZNF132	NM_003433.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	526/707	58945235	1,13005	2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945235G>A	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.1576C>T	19.37:g.58945235G>A	ENSP00000254166:p.Arg526Cys						p.R526C	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1976	-		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)	526					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.1576C>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745748	0.30955	2.27E-4	0.0	ENSG00000131849	ENST00000254166	T	0.07567	3.18	3.57	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	L	0.31804	0.96	0.09310	N	1	B	0.24721	0.11	B	0.16289	0.015	T	0.39820	-0.9595	9	0.33141	T	0.24	.	6.1092	0.20092	0.3513:0.0:0.6487:0.0	.	526	P52740	ZN132_HUMAN	C	526	ENSP00000254166:R526C	ENSP00000254166:R526C	R	-	1	0	ZNF132	63637047	0.000000	0.05858	0.941000	0.38009	0.994000	0.84299	-2.749000	0.00793	0.146000	0.19002	0.655000	0.94253	CGC		0.498	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		62	243	0	0	0	1	0	62	243					A	58945235	G	A	58945235	3	1	79	1	0	0	0	0	1	0	0	0	17775	1116	39	1	548	1	ZNF132	19	58945235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77056	58945235	183748	19898	30215											
ZNF132	7691	broad.mit.edu	37	chr19	58945596	58945596	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatttaccacattgactGcactcataaggtcttacctg	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945596G>A	ENST00000254166.3	-	3	1615	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		CACATTGACTGCACTCATAAG	0.468																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1213-1215)tgC>tgT		zinc finger protein 132							112	105	108					19																	58945596		2203	4300	6503	SO:0001819	synonymous_variant	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945596G>A	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.1215C>T	19.37:g.58945596G>A							p.C405C	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1615	-		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)	405					Q32MI9	Silent	SNP	ENST00000254166.3	37	c.1215C>T	CCDS12980.1																																																																																				0.468	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		42	383	0	0	0	1	0	42	383					A	58945596	G	A	58945596	2	1	79	1	0	0	0	0	0	0	0	1	17775	1311	46	2		2	ZNF132	19	58945596	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	361	58945596	183387	19899	30216											
ZNF324	25799	broad.mit.edu	37	chr19	58983274	58983274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccgtgctgctcagccaccGgcgcattcacacgggcgaga	13	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58983274G>A	ENST00000536459.2	+	4	2124	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q			O75467	Z324A_HUMAN	zinc finger protein 324	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCAGCCACCGGCGCATTCAC	0.687																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1414-1416)cGg>cAg		zinc finger protein 324							34	36	35					19																	58983274		2202	4298	6500	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58983274G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1415G>A	19.37:g.58983274G>A	ENSP00000444812:p.Arg472Gln					ZNF324_ENST00000196482.3_Missense_Mutation_p.R472Q|ZNF324_ENST00000535298.1_Missense_Mutation_p.R249Q	p.R472Q			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	2124	+		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)	472					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1415G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200357	0.09652	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.17691	2.26;2.26;2.26	3.84	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.428368	0.17271	N	0.180378	T	0.05044	0.0135	N	0.01015	-1.05	0.29344	N	0.865829	P	0.47034	0.889	P	0.45856	0.495	T	0.18241	-1.0343	10	0.02654	T	1	.	8.0107	0.30351	0.2079:0.0:0.7921:0.0	.	472	O75467	Z324A_HUMAN	Q	472;472;462;249	ENSP00000196482:R472Q;ENSP00000444812:R472Q;ENSP00000439588:R249Q	ENSP00000196482:R472Q	R	+	2	0	ZNF324	63675086	0.004000	0.15560	0.994000	0.49952	0.413000	0.31143	-0.263000	0.08670	0.597000	0.29811	-0.497000	0.04613	CGG		0.687	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		81	299	0	0	0	1	0	81	299					A	58983274	G	A	58983274	3	1	79	1	0	0	0	0	1	0	0	0	17897	1116	39	1	1425	1	ZNF324	19	58983274	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37678	58983274	145709	19900	30217											
SLC27A5	10998	broad.mit.edu	37	chr19	59011712	59011712	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacccccatacctagccCtacagggatgcagaagccct	7	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59011712C>A	ENST00000263093.2	-	6	1571	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	488					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATACCTAGCCCTACAGGGATG	0.612																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1462-1464)Ggg>Tgg		solute carrier family 27 (fatty acid transporter), member 5							88	81	83					19																	59011712		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59011712C>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1462G>T	19.37:g.59011712C>A	ENSP00000263093:p.Gly488Trp					SLC27A5_ENST00000601355.1_Missense_Mutation_p.G404W	p.G488W	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	6	1571	-		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)	488					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1462G>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160946	0.57368	.	.	ENSG00000083807	ENST00000263093	T	0.58210	0.35	5.33	1.55	0.23275	AMP-dependent synthetase/ligase (1);	1.014630	0.07860	N	0.966174	T	0.68247	0.2980	M	0.79926	2.475	0.09310	N	0.999998	D	0.63880	0.993	D	0.66602	0.945	T	0.50792	-0.8786	10	0.72032	D	0.01	-5.2809	4.028	0.09697	0.0:0.5624:0.1893:0.2483	.	488	Q9Y2P5	S27A5_HUMAN	W	488	ENSP00000263093:G488W	ENSP00000263093:G488W	G	-	1	0	SLC27A5	63703524	0.000000	0.05858	0.684000	0.30055	0.879000	0.50718	0.011000	0.13264	0.593000	0.29745	0.563000	0.77884	GGG		0.612	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		45	238	1	0	7.05121e-23	1	7.99584e-23	45	238					A	59011712	C	A	59011712	3	1	79	1	0	0	0	0	1	0	0	0	14579	681	24	3	630	3	SLC27A5	19	59011712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28438	59011712	117271	19901	30218											
SLC27A5	10998	broad.mit.edu	37	chr19	59012709	59012709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatacaggatcactgtcaCgccatgctgccgacagtcat	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59012709C>T	ENST00000263093.2	-	4	1235	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	376					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCACTGTCACGCCATGCTGC	0.557																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1126-1128)Gtg>Atg		solute carrier family 27 (fatty acid transporter), member 5							106	104	105					19																	59012709		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59012709C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1126G>A	19.37:g.59012709C>T	ENSP00000263093:p.Val376Met					SLC27A5_ENST00000601355.1_Missense_Mutation_p.V292M	p.V376M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	4	1235	-		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)	376					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1126G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899941	0.72754	.	.	ENSG00000083807	ENST00000263093	T	0.51071	0.72	4.9	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.073155	0.53938	D	0.000046	T	0.73353	0.3576	M	0.90759	3.145	0.38129	D	0.938098	D	0.89917	1.0	D	0.87578	0.998	T	0.81406	-0.0947	10	0.87932	D	0	-29.8733	13.9553	0.64144	0.0:1.0:0.0:0.0	.	376	Q9Y2P5	S27A5_HUMAN	M	376	ENSP00000263093:V376M	ENSP00000263093:V376M	V	-	1	0	SLC27A5	63704521	0.992000	0.36948	0.943000	0.38184	0.778000	0.44026	3.066000	0.50002	2.443000	0.82685	0.563000	0.77884	GTG		0.557	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		125	509	0	0	0	1	0	125	509					T	59012709	C	T	59012709	3	4	79	1	0	0	0	0	1	0	0	0	14579	536	19	1	974	1	SLC27A5	19	59012709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	997	59012709	116274	19902	30219											
ZBTB45	84878	broad.mit.edu	37	chr19	59027844	59027844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactcatacgtaggtggCtcagcacctggggtgcgagc	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027844C>T	ENST00000594051.1	-	2	1677	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	ZBTB45_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_Silent_p.E399E			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	399	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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		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;0.0165)|Lung(386;0.18)		ACGTAGGTGGCTCAGCACCTG	0.657																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(1195-1197)gaG>gaA		zinc finger and BTB domain containing 45							55	54	54					19																	59027844		2203	4300	6503	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59027844C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1197G>A	19.37:g.59027844C>T						ZBTB45_ENST00000600990.1_Silent_p.E399E|ZBTB45_ENST00000354590.3_Silent_p.E399E	p.E399E			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1677	-		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)	399			Pro-rich.			Silent	SNP	ENST00000594051.1	37	c.1197G>A	CCDS12984.1																																																																																				0.657	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		6	208	0	0	0	1	0	6	208					T	59027844	C	T	59027844	2	4	79	1	0	0	0	0	0	0	0	1	17599	796	28	2		2	ZBTB45	19	59027844	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15135	59027844	101139	19903	30220											
ZBTB45	84878	broad.mit.edu	37	chr19	59027866	59027866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcacctggggtgcgagcaGgggtgcctgagggggccgtg	21	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027866G>A	ENST00000594051.1	-	2	1655	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	392	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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		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;0.0165)|Lung(386;0.18)		GGTGCGAGCAGGGGTGCCTGA	0.642																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(1174-1176)cCt>cTt		zinc finger and BTB domain containing 45							38	39	39					19																	59027866		2203	4300	6503	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59027866G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1175C>T	19.37:g.59027866G>A	ENSP00000469089:p.Pro392Leu					ZBTB45_ENST00000600990.1_Missense_Mutation_p.P392L|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P392L	p.P392L			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1655	-		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)	392			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.1175C>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.615762	0.28801	.	.	ENSG00000119574	ENST00000354590	T	0.11712	2.75	3.41	2.31	0.28768	.	0.269932	0.29760	N	0.011269	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30060	-0.9991	10	0.54805	T	0.06	.	10.4857	0.44719	0.0:0.2004:0.7996:0.0	.	392	Q96K62	ZBT45_HUMAN	L	392	ENSP00000346603:P392L	ENSP00000346603:P392L	P	-	2	0	ZBTB45	63719678	0.827000	0.29292	0.005000	0.12908	0.256000	0.26092	4.923000	0.63412	0.953000	0.37825	0.467000	0.42956	CCT		0.642	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		30	146	0	0	0	1	0	30	146					A	59027866	G	A	59027866	3	1	79	1	0	0	0	0	1	0	0	0	17599	1000	35	2	368	2	ZBTB45	19	59027866	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	59027866	101117	19904	30221											
ZBTB45	84878	broad.mit.edu	37	chr19	59028114	59028114	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagacagtatgcagtcgggCtggacaggggtctcagtggg	17	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028114C>A	ENST00000594051.1	-	2	1407	c.927G>T	c.(925-927)caG>caT	p.Q309H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	309	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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		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;0.0165)|Lung(386;0.18)		TGCAGTCGGGCTGGACAGGGG	0.637																																					NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(925-927)caG>caT		zinc finger and BTB domain containing 45							36	37	37					19																	59028114		2203	4298	6501	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028114C>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.927G>T	19.37:g.59028114C>A	ENSP00000469089:p.Gln309His					ZBTB45_ENST00000600990.1_Missense_Mutation_p.Q309H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.Q309H	p.Q309H			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1407	-		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)	309			Pro-rich.			Missense_Mutation	SNP	ENST00000594051.1	37	c.927G>T	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.481198	0.26598	.	.	ENSG00000119574	ENST00000354590	T	0.09630	2.96	4.12	-4.62	0.03370	.	0.627301	0.14119	N	0.340177	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B	0.31519	0.327	B	0.28232	0.087	T	0.30357	-0.9981	10	0.56958	D	0.05	.	2.0473	0.03563	0.1271:0.3098:0.1254:0.4378	.	309	Q96K62	ZBT45_HUMAN	H	309	ENSP00000346603:Q309H	ENSP00000346603:Q309H	Q	-	3	2	ZBTB45	63719926	0.000000	0.05858	0.036000	0.18154	0.541000	0.35023	-1.308000	0.02730	-0.845000	0.04179	0.467000	0.42956	CAG		0.637	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		59	244	1	0	6.60958e-23	1	7.49606e-23	59	244					A	59028114	C	A	59028114	3	1	79	1	0	0	0	0	1	0	0	0	17599	796	28	3	616	3	ZBTB45	19	59028114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	59028114	100869	19905	30222											
ZBTB45	84878	broad.mit.edu	37	chr19	59028774	59028774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccacaacgagcgaaccGctgtacaggaactctaccag	10	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028774G>A	ENST00000594051.1	-	2	747	c.267C>T	c.(265-267)agC>agT	p.S89S	ZBTB45_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_Silent_p.S89S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	89	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(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		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;0.0165)|Lung(386;0.18)		CGAGCGAACCGCTGTACAGGA	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(265-267)agC>agT		zinc finger and BTB domain containing 45							56	51	53					19																	59028774		2202	4300	6502	SO:0001819	synonymous_variant	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028774G>A	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23715	protein-coding gene	gene with protein product			"zinc finger protein 499"	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.267C>T	19.37:g.59028774G>A			OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000600990.1_Silent_p.S89S|ZBTB45_ENST00000354590.3_Silent_p.S89S	p.S89S			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	747	-		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)	89			BTB.			Silent	SNP	ENST00000594051.1	37	c.267C>T	CCDS12984.1																																																																																				0.602	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		103	342	0	0	0	1	0	103	342					A	59028774	G	A	59028774	2	1	79	1	0	0	0	0	0	0	0	1	17599	1078	38	1		1	ZBTB45	19	59028774	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	660	59028774	100209	19906	30223											
CHMP2A	27243	broad.mit.edu	37	chr19	59063087	59063087	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctagggctgaggctgcggCctctgcttttttcccaccag	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59063087C>T	ENST00000600118.1	-	5	1023	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	200	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|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)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		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)		GAGGCTGCGGCCTCTGCTTTT	0.612																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(598-600)Gcc>Acc		charged multivesicular body protein 2A							51	59	56					19																	59063087		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063087C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.598G>A	19.37:g.59063087C>T	ENSP00000469240:p.Ala200Thr					CHMP2A_ENST00000601220.1_Missense_Mutation_p.A200T|CHMP2A_ENST00000312547.2_Missense_Mutation_p.A200T	p.A200T			O43633	CHM2A_HUMAN		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)	5	1023	-		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)	200			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.598G>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859324	0.51376	.	.	ENSG00000130724	ENST00000312547	T	0.78364	-1.17	4.83	3.73	0.42828	.	0.191125	0.46145	D	0.000301	T	0.56187	0.1968	N	0.08118	0	0.44439	D	0.99736	B	0.15141	0.012	B	0.11329	0.006	T	0.51896	-0.8647	10	0.22706	T	0.39	.	11.141	0.48402	0.0:0.7156:0.2844:0.0	.	200	O43633	CHM2A_HUMAN	T	200	ENSP00000310440:A200T	ENSP00000310440:A200T	A	-	1	0	CHMP2A	63754899	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	2.730000	0.47335	2.686000	0.91538	0.650000	0.86243	GCC		0.612	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		24	496	0	0	0	1	0	24	496					T	59063087	C	T	59063087	3	4	79	1	0	0	0	0	1	0	0	0	3363	739	26	2	74	2	CHMP2A	19	59063087	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34313	59063087	65896	19907	30224											
CHMP2A	27243	broad.mit.edu	37	chr19	59065517	59065517	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcatggcacggttcagGgccctctggttctgccgcag	13	15	3	0	rs371618144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59065517G>A	ENST00000600118.1	-	1	488	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CHMP2A_ENST00000601220.1_Silent_p.A21A|CHMP2A_ENST00000312547.2_Silent_p.A21A			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	21					endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|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)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		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)		CACGGTTCAGGGCCCTCTGGT	0.572																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(61-63)gcC>gcT		charged multivesicular body protein 2A							121	120	120					19																	59065517		2203	4300	6503	SO:0001819	synonymous_variant	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59065517G>A	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.63C>T	19.37:g.59065517G>A						CHMP2A_ENST00000601220.1_Silent_p.A21A|CHMP2A_ENST00000312547.2_Silent_p.A21A	p.A21A			O43633	CHM2A_HUMAN		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)	1	488	-		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)	21					B2R4W6|Q3ZTT0	Silent	SNP	ENST00000600118.1	37	c.63C>T	CCDS12986.1																																																																																				0.572	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		134	703	0	0	0	1	0	134	703					A	59065517	G	A	59065517	2	1	79	1	0	0	0	0	0	0	0	1	3363	1219	43	2		2	CHMP2A	19	59065517	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2430	59065517	63466	19908	30225											
MZF1	7593	broad.mit.edu	37	chr19	59073457	59073457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctactcggcgctgtggacGcgctggtgctgaatgagctt	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59073457G>A	ENST00000215057.2	-	6	2747	c.2187C>T	c.(2185-2187)cgC>cgT	p.R729R	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Silent_p.R729R|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	729					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCTGTGGACGCGCTGGTGCT	0.617																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(2185-2187)cgC>cgT		myeloid zinc finger 1							33	29	30					19																	59073457		2179	4278	6457	SO:0001819	synonymous_variant	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073457G>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2187C>T	19.37:g.59073457G>A						MZF1_ENST00000599369.1_Silent_p.R729R|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA	p.R729R	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2747	-		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)	729					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	c.2187C>T	CCDS12988.1																																																																																				0.617	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		13	27	0	0	0	1	0	13	27					A	59073457	G	A	59073457	2	1	79	1	0	0	0	0	0	0	0	1	10149	1074	38	1		1	MZF1	19	59073457	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7940	59073457	55526	19909	30226											
MZF1	7593	broad.mit.edu	37	chr19	59082669	59082669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccataaggcagcctcaccctCctcctcagagtcctctagct	6	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59082669C>T	ENST00000215057.2	-	2	648	c.88G>A	c.(88-90)Gag>Aag	p.E30K	AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	30					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTCACCCTCCTCCTCAGAG	0.652																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(88-90)Gag>Aag		myeloid zinc finger 1							30	34	33					19																	59082669		2203	4300	6503	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59082669C>T	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.88G>A	19.37:g.59082669C>T	ENSP00000215057:p.Glu30Lys					MZF1_ENST00000599369.1_Missense_Mutation_p.E30K|MZF1_ENST00000594108.1_Missense_Mutation_p.E30K|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E30K	p.E30K	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	2	648	-		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)	30					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.88G>A	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	7.538	0.660115	0.14645	.	.	ENSG00000099326	ENST00000215057	T	0.07327	3.2	3.67	1.45	0.22620	.	0.426133	0.17364	N	0.176905	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.09377	0.004;0.001	T	0.45585	-0.9251	9	.	.	.	-7.2513	6.1722	0.20424	0.0:0.7625:0.0:0.2375	.	30;30	Q7Z729;P28698	.;MZF1_HUMAN	K	30	ENSP00000215057:E30K	.	E	-	1	0	MZF1	63774481	0.000000	0.05858	0.751000	0.31187	0.103000	0.19146	-0.083000	0.11286	0.514000	0.28300	0.655000	0.94253	GAG		0.652	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		35	135	0	0	0	1	0	35	135					T	59082669	C	T	59082669	3	4	79	1	0	0	0	0	1	0	0	0	10149	864	30	2	2136	2	MZF1	19	59082669	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9212	59082669	46314	19910	30227											
DEFB128	245939	broad.mit.edu	37	chr20	168663	168663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagcacaacataatttcCcacttagacatcctatttca	2	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:168663C>T	ENST00000334391.4	-	2	203	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	49					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACATAATTTCCCACTTAGACA	0.388																																						ENST00000334391.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(145-147)gGg>gAg		defensin, beta 128							344	319	328					20																	168663		2203	4300	6503	SO:0001583	missense	245939				defense response to bacterium	extracellular region		g.chr20:168663C>T	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"Defensins, beta"	18106	protein-coding gene	gene with protein product	"defensin, beta 28"					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.146G>A	20.37:g.168663C>T	ENSP00000335382:p.Gly49Glu						p.G49E	NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	203	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	49					B2RU29	Missense_Mutation	SNP	ENST00000334391.4	37	c.146G>A	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550653	0.45383	.	.	ENSG00000185982	ENST00000334391	T	0.13538	2.58	4.3	2.38	0.29361	.	0.427123	0.20219	N	0.096725	T	0.17874	0.0429	.	.	.	0.09310	N	1	P	0.42078	0.77	P	0.48840	0.592	T	0.04840	-1.0923	9	0.66056	D	0.02	-4.7649	6.5449	0.22400	0.0:0.7865:0.0:0.2135	.	49	Q7Z7B8	DB128_HUMAN	E	49	ENSP00000335382:G49E	ENSP00000335382:G49E	G	-	2	0	DEFB128	116663	0.002000	0.14202	0.144000	0.22314	0.081000	0.17604	0.437000	0.21543	0.751000	0.32900	0.651000	0.88453	GGG		0.388	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	NM_001037732		202	896	0	0	0	1	0	202	896					T	168663	C	T	168663	3	4	79	1	0	0	0	0	1	0	0	0	4429	623	22	2	139	2	DEFB128	20	168663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08		168663	62856857	19911	30228											
C20orf96	140680	broad.mit.edu	37	chr20	259966	259966	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggccctcccgctcctgagCgaggtctgcgggcggaggga	18	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:259966C>T	ENST00000360321.2	-	5	450	c.312G>A	c.(310-312)tcG>tcA	p.S104S	C20orf96_ENST00000400269.3_Silent_p.S46S|C20orf96_ENST00000382369.5_Silent_p.S69S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	104										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)			CGCTCCTGAGCGAGGTCTGCG	0.706																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(310-312)tcG>tcA		chromosome 20 open reading frame 96							59	46	50					20																	259966		2203	4300	6503	SO:0001819	synonymous_variant	140680							g.chr20:259966C>T	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.312G>A	20.37:g.259966C>T						C20orf96_ENST00000382369.5_Silent_p.S69S|C20orf96_ENST00000400269.3_Silent_p.S46S	p.S104S	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		5	450	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	104					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Silent	SNP	ENST00000360321.2	37	c.312G>A	CCDS12994.1																																																																																				0.706	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		45	201	0	0	0	1	0	45	201					T	259966	C	T	259966	2	4	79	1	0	0	0	0	0	0	0	1	2129	755	27	1		1	C20orf96	20	259966	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91303	259966	62765554	19912	30229											
C20orf96	140680	broad.mit.edu	37	chr20	264666	264666	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttccgccttctatgtagttCtcttggattcttcggctggc	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:264666C>A	ENST00000360321.2	-	4	382	c.244G>T	c.(244-246)Gaa>Taa	p.E82*	C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*|C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	82										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)			CTATGTAGTTCTCTTGGATTC	0.537																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(244-246)Gaa>Taa		chromosome 20 open reading frame 96							207	170	182					20																	264666		2203	4300	6503	SO:0001587	stop_gained	140680							g.chr20:264666C>A	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.244G>T	20.37:g.264666C>A	ENSP00000353470:p.Glu82*					C20orf96_ENST00000382369.5_Nonsense_Mutation_p.E47*|C20orf96_ENST00000400269.3_Nonsense_Mutation_p.E24*	p.E82*	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		4	382	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	82					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Nonsense_Mutation	SNP	ENST00000360321.2	37	c.244G>T	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217647	0.58560	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	.	.	.	3.54	3.54	0.40534	.	0.677352	0.12134	N	0.496481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-1.2996	10.8705	0.46881	0.0:1.0:0.0:0.0	.	.	.	.	X	47;82;24	.	ENSP00000353470:E82X	E	-	1	0	C20orf96	212666	0.001000	0.12720	0.010000	0.14722	0.098000	0.18820	0.856000	0.27818	2.282000	0.76494	0.561000	0.74099	GAA		0.537	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269		13	322	1	0	1.52009e-12	1	1.63397e-12	13	322					A	264666	C	A	264666	4	1	79	1	0	0	0	0	0	1	0	0	2129	922	32	3	879	3	C20orf96	20	264666	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4700	264666	62760854	19913	30230											
ZCCHC3	85364	broad.mit.edu	37	chr20	279106	279106	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgaccgacaggtttgggatCtggaccggggagtacaaatg	16	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:279106C>A	ENST00000382352.3	+	1	1370	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	293							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGTTTGGGATCTGGACCGGGG	0.647																																						ENST00000382352.3																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(877-879)atC>atA		zinc finger, CCHC domain containing 3							62	68	66					20																	279106		2062	4199	6261	SO:0001819	synonymous_variant	85364						nucleic acid binding|zinc ion binding	g.chr20:279106C>A	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"Zinc fingers, CCHC domain containing"	16230	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 99"	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.879C>A	20.37:g.279106C>A							p.I293I	NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1370	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	293					Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	c.879C>A	CCDS42844.1																																																																																				0.647	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1			99	480	1	0	1.10825e-40	1	1.34457e-40	99	480					A	279106	C	A	279106	2	1	79	1	0	0	0	0	0	0	0	1	17642	903	32	3		3	ZCCHC3	20	279106	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14440	279106	62746414	19914	30231											
TRIB3	57761	broad.mit.edu	37	chr20	372084	372084	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggacatgcacagcctggtgCgaagccgccaccgtatccct	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:372084C>T	ENST00000217233.3	+	3	998	c.445C>T	c.(445-447)Cga>Tga	p.R149*	TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAGCCTGGTGCGAAGCCGCCA	0.657																																					Melanoma(101;421 2374 19538)	ENST00000217233.3																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21						c.(445-447)Cga>Tga		tribbles pseudokinase 3							54	40	44					20																	372084		2203	4300	6503	SO:0001587	stop_gained	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:372084C>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.445C>T	20.37:g.372084C>T	ENSP00000217233:p.Arg149*					TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R176*	p.R149*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	3	998	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	149			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Nonsense_Mutation	SNP	ENST00000217233.3	37	c.445C>T	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	C	38	6.925983	0.97940	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	.	.	.	5.15	4.14	0.48551	.	0.000000	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-37.2272	12.6573	0.56793	0.1748:0.8252:0.0:0.0	.	.	.	.	X	149;149;176	.	ENSP00000217233:R149X	R	+	1	2	TRIB3	320084	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	1.962000	0.40442	2.667000	0.90743	0.561000	0.74099	CGA		0.657	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		50	191	0	0	0	1	0	50	191					T	372084	C	T	372084	4	4	79	1	0	0	0	0	0	1	0	0	16537	760	27	1	451	1	TRIB3	20	372084	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92978	372084	62653436	19915	30232											
RBCK1	10616	broad.mit.edu	37	chr20	390527	390527	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgctgtactggctttcagcaGaggaaatggccctgagcctc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:390527G>T	ENST00000356286.5	+	2	730	c.25G>T	c.(25-27)Gag>Tag	p.E9*	RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000400245.3_3'UTR	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	9	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCTTTCAGCAGAGGAAATGGC	0.577																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(25-27)Gag>Tag		RanBP-type and C3HC4-type zinc finger containing 1							119	131	127					20																	390527		2203	4300	6503	SO:0001587	stop_gained	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:390527G>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.25G>T	20.37:g.390527G>T	ENSP00000348632:p.Glu9*					RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000475269.1_Nonsense_Mutation_p.E9*|RBCK1_ENST00000353660.3_Intron	p.E9*	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			2	730	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	9			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Nonsense_Mutation	SNP	ENST00000356286.5	37	c.25G>T	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.030241|3.030241	0.54790|0.54790	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000441733|ENST00000411647;ENST00000356286;ENST00000475269;ENST00000400244;ENST00000400243	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.094910	.|0.38897	.|U	.|0.001527	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.66056	.|D	.|0.02	.|-11.2532	15.14|15.14	0.72604|0.72604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|9	.|.	.|ENSP00000348632:E9X	.|E	+|+	.|1	.|0	RBCK1|RBCK1	338527|338527	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.771000|0.771000	0.43674|0.43674	6.944000|6.944000	0.75940|0.75940	2.397000|2.397000	0.81536|0.81536	0.563000|0.563000	0.77884|0.77884	.|GAG		0.577	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		204	979	1	0	1.34617e-89	1	1.72753e-89	204	979					T	390527	G	T	390527	4	4	79	1	0	0	0	0	0	1	0	0	13157	943	33	3	50	3	RBCK1	20	390527	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18443	390527	62634993	19916	30233											
RBCK1	10616	broad.mit.edu	37	chr20	400247	400247	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatcaacaagcccacgCggcctggctgtgagatgtgc	11	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:400247C>T	ENST00000356286.5	+	6	1333	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W|RBCK1_ENST00000382181.2_Silent_p.R93R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	210	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGCCCACGCGGCCTGGCTG	0.721																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(628-630)Cgg>Tgg		RanBP-type and C3HC4-type zinc finger containing 1							18	18	18					20																	400247		2196	4292	6488	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:400247C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.628C>T	20.37:g.400247C>T	ENSP00000348632:p.Arg210Trp					RBCK1_ENST00000382181.2_Silent_p.R93R|RBCK1_ENST00000353660.3_Missense_Mutation_p.R168W	p.R210W	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			6	1333	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	210			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.628C>T	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485723	0.63962	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000400244;ENST00000400243	T;T	0.45276	0.9;0.9	4.73	-1.35	0.09114	Zinc finger, RanBP2-type (3);	0.131807	0.50627	D	0.000105	T	0.46405	0.1391	M	0.72353	2.195	0.80722	D	1	D;P;B	0.56035	0.974;0.812;0.322	P;B;B	0.47015	0.534;0.19;0.037	T	0.58451	-0.7634	10	0.87932	D	0	-17.207	15.1642	0.72807	0.7534:0.2466:0.0:0.0	.	200;168;210	B4E0F5;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	W	210;168;210;251	ENSP00000348632:R210W;ENSP00000254960:R168W	ENSP00000254960:R168W	R	+	1	2	RBCK1	348247	0.162000	0.22906	0.350000	0.25708	0.966000	0.64601	0.739000	0.26173	-0.431000	0.07307	-0.521000	0.04368	CGG		0.721	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		20	54	0	0	0	1	0	20	54					T	400247	C	T	400247	3	4	79	1	0	0	0	0	1	0	0	0	13157	759	27	1	669	1	RBCK1	20	400247	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9720	400247	62625273	19917	30234											
RBCK1	10616	broad.mit.edu	37	chr20	409726	409726	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcaccaagggcccacgCtggggccctggggtgagtct	17	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:409726C>T	ENST00000356286.5	+	11	2145	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	RBCK1_ENST00000353660.3_Silent_p.R438R|RBCK1_ENST00000382181.2_Silent_p.R310R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	480					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGGGCCCACGCTGGGGCCCTG	0.637																																						ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(1438-1440)cgC>cgT		RanBP-type and C3HC4-type zinc finger containing 1							34	39	37					20																	409726		2203	4300	6503	SO:0001819	synonymous_variant	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:409726C>T	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1440C>T	20.37:g.409726C>T						RBCK1_ENST00000382181.2_Silent_p.R310R|RBCK1_ENST00000353660.3_Silent_p.R438R	p.R480R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			11	2145	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	480					O95623|Q86SL2|Q96BS3|Q9BYM9	Silent	SNP	ENST00000356286.5	37	c.1440C>T	CCDS13000.2																																																																																				0.637	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		46	197	0	0	0	1	0	46	197					T	409726	C	T	409726	2	4	79	1	0	0	0	0	0	0	0	1	13157	784	28	2		2	RBCK1	20	409726	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9479	409726	62615794	19918	30235											
CSNK2A1	1457	broad.mit.edu	37	chr20	478425	478425	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttaacgtctggtacaattgCtgttaaagacaaatgtttga	9	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	ENST00000217244.3	-	7	742		c.e7-1		CSNK2A1_ENST00000400217.2_Splice_Site|CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide						axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGTACAATTGCTGTTAAAGAC	0.343																																						ENST00000217244.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.e7-1		casein kinase 2, alpha 1 polypeptide							86	87	87					20																	478425		2203	4300	6503	SO:0001630	splice_region_variant	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:478425C>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.367-1G>T	20.37:g.478425C>A						CSNK2A1_ENST00000400227.3_Splice_Site|CSNK2A1_ENST00000400217.1_Splice_Site|CSNK2A1_ENST00000460062.1_Splice_Site|CSNK2A1_ENST00000349736.5_Splice_Site		NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		7	742	-		Breast(17;0.231)						B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Splice_Site	SNP	ENST00000217244.3	37		CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680195	0.88542	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4678	0.90762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK2A1	426425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.847000	0.97988	0.591000	0.81541	.		0.343	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895	Intron	37	199	1	0	4.14481e-20	1	4.63599e-20	37	199					A	478425	C	A	478425	5	1	79	1	0	0	0	0	0	0	1	0	3968	811	28	3	841	3	CSNK2A1	20	478425	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68699	478425	62547095	19919	30236											
SCRT2	85508	broad.mit.edu	37	chr20	644759	644759	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtggcgtaggtcttgccGcactcggcgcacgcgtgccg	16	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:644759G>A	ENST00000246104.6	-	2	1057	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	160					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						AGGTCTTGCCGCACTCGGCGC	0.791																																						ENST00000246104.6																			0				kidney(1)|liver(1)|ovary(1)	3						c.(478-480)tgC>tgT		scratch family zinc finger 2							17	16	16					20																	644759		2195	4293	6488	SO:0001819	synonymous_variant	85508				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:644759G>A		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.480C>T	20.37:g.644759G>A						RP5-850E9.3_ENST00000488788.2_Intron	p.C160C	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN			2	1057	-			160						Silent	SNP	ENST00000246104.6	37	c.480C>T	CCDS13006.1																																																																																				0.791	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253383.2	NM_033129		29	125	0	0	0	1	0	29	125					A	644759	G	A	644759	2	1	79	1	0	0	0	0	0	0	0	1	13992	1079	38	1		1	SCRT2	20	644759	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166334	644759	62380761	19920	30237											
RSPO4	343637	broad.mit.edu	37	chr20	944697	944697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggctctccaggccccaagccGagccgcaggtctttccattg	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:944697G>A	ENST00000217260.4	-	4	572	c.476C>T	c.(475-477)tCg>tTg	p.S159L	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	159	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCCCAAGCCGAGCCGCAGGT	0.632																																						ENST00000217260.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(475-477)tCg>tTg		R-spondin 4							19	23	21					20																	944697		1877	4061	5938	SO:0001583	missense	343637				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr20:944697G>A	AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.476C>T	20.37:g.944697G>A	ENSP00000217260:p.Ser159Leu					RSPO4_ENST00000400634.2_Intron	p.S159L	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN			4	572	-			159			TSP type-1.		A2A2I6|Q9UGB2	Missense_Mutation	SNP	ENST00000217260.4	37	c.476C>T	CCDS42846.1	.	.	.	.	.	.	.	.	.	.	G	6.449	0.450969	0.12223	.	.	ENSG00000101282	ENST00000217260	T	0.79352	-1.26	4.35	3.4	0.38934	.	0.869683	0.09951	N	0.734660	T	0.65207	0.2669	L	0.39085	1.19	0.09310	N	0.999998	B	0.33022	0.394	B	0.28465	0.09	T	0.57785	-0.7751	10	0.59425	D	0.04	-14.9986	4.7996	0.13290	0.1985:0.1798:0.6217:0.0	.	159	Q2I0M5	RSPO4_HUMAN	L	159	ENSP00000217260:S159L	ENSP00000217260:S159L	S	-	2	0	RSPO4	892697	0.414000	0.25408	0.156000	0.22583	0.047000	0.14425	0.871000	0.28023	0.969000	0.38237	0.298000	0.19748	TCG		0.632	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077492.3	XM_297816		72	216	0	0	0	1	0	72	216					A	944697	G	A	944697	3	1	79	1	0	0	0	0	1	0	0	0	13762	1059	37	1	236	1	RSPO4	20	944697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299938	944697	62080823	19921	30238											
PSMF1	9491	broad.mit.edu	37	chr20	1144966	1144966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcttcttgcctcaggcctCggagaggtggcatgattgtg	13	9	3	2	rs371970750		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1144966C>T	ENST00000335877.6	+	6	786	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	204	Pro-rich.				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 endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(610-612)Cgg>Tgg		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	225	233	230		610,610	5.9	1	20		230	0,8600		0,0,4300	no	missense,missense	PSMF1	NM_006814.3,NM_178578.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	204/272,204/272	1144966	1,13005	2203	4300	6503	SO:0001583	missense	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1144966C>T	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.610C>T	20.37:g.1144966C>T	ENSP00000338039:p.Arg204Trp					PSMF1_ENST00000333082.3_Missense_Mutation_p.R204W|PSMF1_ENST00000246015.4_Missense_Mutation_p.R204W|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.R116W|PSMF1_ENST00000438768.2_Missense_Mutation_p.R142W	p.R204W	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN			6	786	+			204			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	ENST00000335877.6	37	c.610C>T	CCDS13010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477537|3.477537	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000125818|ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000454500;ENST00000246015;ENST00000335877;ENST00000438768|ENST00000435720	T;T;T;T;T|.	0.48836|.	1.45;0.8;1.45;1.45;0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.135451|.	0.49916|.	D|.	0.000136|.	T|T	0.70116|0.70116	0.3187|0.3187	L|L	0.50333|0.50333	1.59|1.59	0.43347|0.43347	D|D	0.995403|0.995403	D;D;D;D;D|.	0.76494|.	0.998;0.998;0.999;0.998;0.998|.	P;P;P;P;P|.	0.60609|.	0.828;0.736;0.877;0.828;0.745|.	T|T	0.64939|0.64939	-0.6289|-0.6289	10|5	0.66056|.	D|.	0.02|.	-3.1599|-3.1599	18.1736|18.1736	0.89754|0.89754	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	142;116;116;204;204|.	E7ER20;F5H4Z3;B4DUJ0;Q5QPM7;Q92530|.	.;.;.;.;PSMF1_HUMAN|.	W|L	204;116;98;204;204;142|45	ENSP00000327704:R204W;ENSP00000371323:R116W;ENSP00000246015:R204W;ENSP00000338039:R204W;ENSP00000401404:R142W|.	ENSP00000246015:R204W|.	R|S	+|+	1|2	2|0	PSMF1|PSMF1	1092966|1092966	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.376000|0.376000	0.30014|0.30014	2.633000|2.633000	0.46519|0.46519	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.552	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		261	1186	0	0	0	1	0	261	1186					T	1144966	C	T	1144966	3	4	79	1	0	0	0	0	1	0	0	0	12757	875	31	1	632	1	PSMF1	20	1144966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200269	1144966	61880554	19922	30239											
C20orf46	55321	broad.mit.edu	37	chr20	1161920	1161920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatccaccgggcggctcaCgggctccagggctggcccct	13	16	1	0	rs147671569		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1161920C>T	ENST00000381894.3	-	2	1014	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	115						integral component of membrane (GO:0016021)											GGGCGGCTCACGGGCTCCAGG	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17904	0.0		0.0	False		,,,				2504	0.0					ENST00000381894.3																			0											c.(343-345)Gtg>Atg		transmembrane protein 74B		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	68	75	73		343	2	0.9	20	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C20orf46	NM_018354.1	21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	115/257	1161920	2,13004	2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1161920C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.343G>A	20.37:g.1161920C>T	ENSP00000371318:p.Val115Met						p.V115M	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	1014	-			115					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.343G>A	CCDS13011.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.79	2.937811	0.52972	2.27E-4	1.16E-4	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.46451	0.88;0.87	3.99	1.95	0.26073	.	0.382752	0.18951	N	0.126681	T	0.37320	0.0999	L	0.44542	1.39	0.27067	N	0.963421	D	0.65815	0.995	P	0.48454	0.578	T	0.19484	-1.0304	10	0.52906	T	0.07	-9.1593	6.5083	0.22208	0.0:0.7116:0.1841:0.1043	.	115	Q9NUR3	CT046_HUMAN	M	115	ENSP00000371318:V115M;ENSP00000400552:V115M	ENSP00000371318:V115M	V	-	1	0	C20orf46	1109920	0.278000	0.24230	0.920000	0.36463	0.946000	0.59487	1.281000	0.33214	0.406000	0.25560	0.563000	0.77884	GTG		0.637	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		13	438	0	0	0	1	0	13	438					T	1161920	C	T	1161920	3	4	79	1	0	0	0	0	1	0	0	0	2120	536	19	1	431	1	C20orf46	20	1161920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16954	1161920	61863600	19923	30240											
C20orf46	55321	broad.mit.edu	37	chr20	1162153	1162153	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggggcttggggaccattgCtcagtgtcttcagttccaga	13	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1162153C>A	ENST00000381894.3	-	2	781	c.110G>T	c.(109-111)aGc>aTc	p.S37I	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	37						integral component of membrane (GO:0016021)											GGGACCATTGCTCAGTGTCTT	0.597																																						ENST00000381894.3																			0											c.(109-111)aGc>aTc		transmembrane protein 74B							38	36	37					20																	1162153		2203	4300	6503	SO:0001583	missense	55321					integral to membrane	protein binding	g.chr20:1162153C>A	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 46"	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.110G>T	20.37:g.1162153C>A	ENSP00000371318:p.Ser37Ile					TMEM74B_ENST00000481747.1_5'UTR	p.S37I	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN			2	781	-			37					D3DVW5	Missense_Mutation	SNP	ENST00000381894.3	37	c.110G>T	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434713	0.43224	.	.	ENSG00000125895	ENST00000381894;ENST00000429036	T;T	0.53857	0.68;0.6	4.56	1.58	0.23477	.	0.676987	0.13563	N	0.378607	T	0.40815	0.1132	L	0.36672	1.1	0.26944	N	0.966177	P	0.36249	0.545	B	0.38056	0.264	T	0.22871	-1.0204	10	0.44086	T	0.13	-8.8035	7.4577	0.27276	0.0:0.7207:0.0:0.2793	.	37	Q9NUR3	CT046_HUMAN	I	37	ENSP00000371318:S37I;ENSP00000400552:S37I	ENSP00000371318:S37I	S	-	2	0	C20orf46	1110153	0.654000	0.27367	0.998000	0.56505	0.974000	0.67602	1.053000	0.30442	0.178000	0.19917	0.563000	0.77884	AGC		0.597	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		8	273	1	0	0.0381472	1	0.0382505	8	273					A	1162153	C	A	1162153	3	1	79	1	0	0	0	0	1	0	0	0	2120	797	28	3	664	3	C20orf46	20	1162153	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233	1162153	61863367	19924	30241											
SNPH	9751	broad.mit.edu	37	chr20	1286372	1286372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgtggacccaccccacagCggcctggtgccaaccccaac	9	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1286372C>T	ENST00000381873.3	+	6	1395	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	SNPH_ENST00000381867.1_Missense_Mutation_p.R431W	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	387					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						CACCCCACAGCGGCCTGGTGC	0.657																																						ENST00000381867.1																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1291-1293)Cgg>Tgg		syntaphilin							25	26	26					20																	1286372		2203	4295	6498	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1286372C>T		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.1159C>T	20.37:g.1286372C>T	ENSP00000371297:p.Arg387Trp					SNPH_ENST00000381873.3_Missense_Mutation_p.R387W	p.R431W			O15079	SNPH_HUMAN			7	1933	+			387					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.1291C>T	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459210	0.43634	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.95	3.96	0.45880	.	1.804140	0.02557	N	0.096337	T	0.20251	0.0487	N	0.14661	0.345	0.18873	N	0.999989	D;P	0.54772	0.968;0.947	B;B	0.40101	0.319;0.319	T	0.18493	-1.0335	9	0.72032	D	0.01	-1.9986	5.3483	0.16022	0.1378:0.6267:0.15:0.0855	.	431;387	O15079-2;O15079	.;SNPH_HUMAN	W	387;431	.	ENSP00000371291:R431W	R	+	1	2	SNPH	1234372	0.000000	0.05858	0.225000	0.23894	0.954000	0.61252	0.420000	0.21263	2.572000	0.86782	0.561000	0.74099	CGG		0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		34	122	0	0	0	1	0	34	122					T	1286372	C	T	1286372	3	4	79	1	0	0	0	0	1	0	0	0	14900	759	27	1	1173	1	SNPH	20	1286372	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124219	1286372	61739148	19925	30242											
FKBP1A	2280	broad.mit.edu	37	chr20	1352850	1352850	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caccataggcataatctggaGatatagtcagtttggctctc	9	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1352850G>T	ENST00000400137.4	-	4	396	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000460490.1_5'Flank|SDCBP2-AS1_ENST00000609470.1_RNA|SDCBP2-AS1_ENST00000609285.1_RNA|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y|FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	78	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018)	activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ATAATCTGGAGATATAGTCAG	0.488																																						ENST00000400137.4																			0				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(232-234)tCt>tAt		FK506 binding protein 1A, 12kDa	Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)						73	63	66					20																	1352850		2203	4300	6503	SO:0001583	missense	2280				'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding	g.chr20:1352850G>T	M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832			3711	protein-coding gene	gene with protein product	"calstabin 1"	186945	"FK506-binding protein 1A (12kD)"	FKBP1		1930186	Standard	NM_000801		Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.233C>A	20.37:g.1352850G>T	ENSP00000383003:p.Ser78Tyr					FKBP1A_ENST00000439640.2_Missense_Mutation_p.S62Y|FKBP1A_ENST00000381719.3_Missense_Mutation_p.S78Y|FKBP1A_ENST00000381715.1_Missense_Mutation_p.S73Y|SDCBP2-AS1_ENST00000446423.1_RNA|FKBP1A_ENST00000381724.3_Missense_Mutation_p.S73Y	p.S78Y	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN			4	396	-			78			PPIase FKBP-type.		D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	Missense_Mutation	SNP	ENST00000400137.4	37	c.233C>A	CCDS13014.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760296	0.89932	.	.	ENSG00000088832	ENST00000400137;ENST00000381724;ENST00000381719;ENST00000381715;ENST00000439640	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	4.8	4.8	0.61643	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000015	T	0.65913	0.2737	.	.	.	0.58432	D	0.999998	D;D	0.61080	0.976;0.989	D;D	0.67548	0.937;0.952	T	0.70626	-0.4820	9	0.87932	D	0	.	18.4089	0.90545	0.0:0.0:1.0:0.0	.	62;78	Q1JUQ5;P62942	.;FKB1A_HUMAN	Y	78;73;78;73;62	ENSP00000383003:S78Y;ENSP00000371143:S73Y;ENSP00000371138:S78Y;ENSP00000371134:S73Y;ENSP00000409863:S62Y	ENSP00000371134:S73Y	S	-	2	0	FKBP1A	1300850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.493000	0.97960	2.661000	0.90470	0.650000	0.86243	TCT		0.488	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077534.2			55	252	1	0	1.4709e-25	1	1.68871e-25	55	252					T	1352850	G	T	1352850	3	4	79	1	0	0	0	0	1	0	0	0	5931	942	33	3	97	3	FKBP1A	20	1352850	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66478	1352850	61672670	19926	30243											
NSFL1C	55968	broad.mit.edu	37	chr20	1426401	1426401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctctgattcgtcgattaagAtggaagagctggctttggct	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1426401A>G	ENST00000216879.4	-	8	1727	c.860T>C	c.(859-861)aTc>aCc	p.I287T	NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	287						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCGATTAAGATGGAAGAGCT	0.532																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(859-861)aTc>aCc		NSFL1 (p97) cofactor (p47)							193	191	192					20																	1426401		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426401A>G	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.860T>C	20.37:g.1426401A>G	ENSP00000216879:p.Ile287Thr					NSFL1C_ENST00000381658.4_Missense_Mutation_p.I176T|NSFL1C_ENST00000353088.2_Missense_Mutation_p.I256T|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.I289T|NSFL1C_ENST00000476071.1_Missense_Mutation_p.I289T	p.I287T	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			8	1727	-			287					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.860T>C	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.401691	0.62288	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.53	4.53	0.55603	.	0.285629	0.35262	N	0.003323	T	0.24198	0.0586	N	0.08118	0	0.54753	D	0.999981	B;B;B	0.31256	0.092;0.316;0.056	B;B;B	0.26969	0.032;0.075;0.021	T	0.16364	-1.0405	10	0.59425	D	0.04	-4.3721	14.3138	0.66434	1.0:0.0:0.0:0.0	.	256;176;287	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	T	256;289;287;176;289	ENSP00000338643:I256T;ENSP00000418529:I289T;ENSP00000216879:I287T;ENSP00000371074:I176T;ENSP00000202584:I289T	ENSP00000216879:I287T	I	-	2	0	NSFL1C	1374401	1.000000	0.71417	0.347000	0.25668	0.924000	0.55760	8.630000	0.90987	2.037000	0.60232	0.459000	0.35465	ATC		0.532	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		206	814	0	0	0	1	0	206	814					G	1426401	A	G	1426401	3	3	79	1	0	0	0	0	1	0	0	0	10714	333	12	4	260	4	NSFL1C	20	1426401	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	73551	1426401	61599119	19927	30244											
NSFL1C	55968	broad.mit.edu	37	chr20	1433256	1433256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaccgtgagctagcctccGaagctctgctggcacctccc	9	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1433256G>A	ENST00000216879.4	-	7	1534	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	223	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTAGCCTCCGAAGCTCTGCT	0.537																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(667-669)Cgg>Tgg		NSFL1 (p97) cofactor (p47)							146	137	140					20																	1433256		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433256G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.667C>T	20.37:g.1433256G>A	ENSP00000216879:p.Arg223Trp					NSFL1C_ENST00000381658.4_Missense_Mutation_p.R112W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R192W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R225W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R225W	p.R223W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			7	1534	-			223			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.667C>T	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206609	0.58343	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.46063	0.91;0.89;0.9;0.88;0.89	5.13	5.13	0.70059	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	L	0.45352	1.415	0.80722	D	1	D;B;P	0.89917	1.0;0.252;0.459	D;B;B	0.83275	0.996;0.031;0.094	T	0.58399	-0.7643	10	0.66056	D	0.02	-9.271	17.2951	0.87168	0.0:0.0:1.0:0.0	.	192;112;223	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	W	192;225;223;112;225	ENSP00000338643:R192W;ENSP00000418529:R225W;ENSP00000216879:R223W;ENSP00000371074:R112W;ENSP00000202584:R225W	ENSP00000216879:R223W	R	-	1	2	NSFL1C	1381256	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.655000	0.54460	2.824000	0.97209	0.655000	0.94253	CGG		0.537	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		156	666	0	0	0	1	0	156	666					A	1433256	G	A	1433256	3	1	79	1	0	0	0	0	1	0	0	0	10714	1057	37	1	457	1	NSFL1C	20	1433256	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6855	1433256	61592264	19928	30245											
NSFL1C	55968	broad.mit.edu	37	chr20	1438856	1438856	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagactcacctctggccttcCtcttcctcctcatcttcatc	3	18	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1438856C>T	ENST00000216879.4	-	3	1134	c.267G>A	c.(265-267)gaG>gaA	p.E89E	NSFL1C_ENST00000381658.4_Missense_Mutation_p.R10K|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000476071.1_Silent_p.E89E|NSFL1C_ENST00000461211.1_5'Flank|NSFL1C_ENST00000353088.2_Silent_p.E89E	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	89	Poly-Glu.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGGCCTTCCTCTTCCTCCT	0.483																																						ENST00000381658.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(28-30)aGg>aAg		NSFL1 (p97) cofactor (p47)							148	126	133					20																	1438856		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1438856C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"UBX domain containing"	15912	protein-coding gene	gene with protein product	"SHP1 homolog (S. cerevisiae)", "UBX domain protein 2C"	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.267G>A	20.37:g.1438856C>T						NSFL1C_ENST00000353088.2_Silent_p.E89E|NSFL1C_ENST00000350991.4_Silent_p.E89E|NSFL1C_ENST00000216879.4_Silent_p.E89E|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Silent_p.E89E	p.R10K			Q9UNZ2	NSF1C_HUMAN			2	1116	-			0					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.29G>A	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004086	0.54254	.	.	ENSG00000088833	ENST00000381658	T	0.41400	1.0	5.16	-4.07	0.03975	.	.	.	.	.	T	0.27697	0.0681	.	.	.	0.21020	N	0.9998	B	0.02656	0.0	B	0.04013	0.001	T	0.21143	-1.0254	8	0.31617	T	0.26	-8.9849	13.2385	0.59983	0.0:0.3723:0.0:0.6277	.	10	Q9UNZ2-6	.	K	10	ENSP00000371074:R10K	ENSP00000371074:R10K	R	-	2	0	NSFL1C	1386856	0.174000	0.23070	0.729000	0.30791	0.934000	0.57294	-0.711000	0.05019	-0.684000	0.05183	0.655000	0.94253	AGG		0.483	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		78	390	0	0	0	1	0	78	390					T	1438856	C	T	1438856	2	4	79	1	0	0	0	0	0	0	0	1	10714	681	24	2		2	NSFL1C	20	1438856	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5600	1438856	61586664	19929	30246											
SIRPB2	284759	broad.mit.edu	37	chr20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcactgaggtgccttcatccGatttcatttctgagtgttca	9	10	4	2	rs374055663		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	134					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)		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478																																						ENST00000359801.3																			2	Substitution - Missense(2)	p.S240L(1)|p.S141L(1)	large_intestine(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(421-423)tCg>tTg		signal-regulatory protein beta 2		G	LEU/SER,	2,3134		0,2,1566	181	156	164		422,	-0.9	0	20		164	0,7164		0,0,3582	no	missense,intron	SIRPB2	NM_001122962.1,NM_001134836.1	145,	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,	141/343,	1460374	2,10298	1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460374G>A	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.422C>T	20.37:g.1460374G>A	ENSP00000352849:p.Ser141Leu					SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000444444.1_Intron	p.S141L	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			2	458	-			141			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.422C>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	SIRPB2	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG		0.478	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		36	786	0	0	0	1	0	36	786					A	1460374	G	A	1460374	3	1	79	1	0	0	0	0	1	0	0	0	14384	1059	37	1	622	1	SIRPB2	20	1460374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21518	1460374	61565146	19930	30247											
SIRPB1	10326	broad.mit.edu	37	chr20	1552374	1552374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcttctacctcggatgGcctcagacaagttggcagtc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552374G>A	ENST00000381605.4	-	3	807	c.743C>T	c.(742-744)gCc>gTc	p.A248V	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					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						ACCTCGGATGGCCTCAGACAA	0.612																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)gCc>gTc		signal-regulatory protein beta 1							83	75	78					20																	1552374		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552374G>A	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.743C>T	20.37:g.1552374G>A	ENSP00000371018:p.Ala248Val					SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	p.A248V	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			3	807	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.743C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	0.379	-0.929480	0.02359	.	.	ENSG00000101307	ENST00000381605	T	0.02177	4.41	2.47	0.415	0.16411	.	0.573863	0.16798	N	0.199113	T	0.01061	0.0035	N	0.12831	0.26	0.22787	N	0.998734	B	0.09022	0.002	B	0.10450	0.005	T	0.48670	-0.9015	10	0.02654	T	1	.	4.2716	0.10789	0.358:0.0:0.642:0.0	.	248	O00241	SIRB1_HUMAN	V	248	ENSP00000371018:A248V	ENSP00000371018:A248V	A	-	2	0	SIRPB1	1500374	0.014000	0.17966	0.964000	0.40570	0.911000	0.54048	-0.227000	0.09126	0.374000	0.24650	0.456000	0.33151	GCC		0.612	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		52	270	0	0	0	1	0	52	270					A	1552374	G	A	1552374	3	1	79	1	0	0	0	0	1	0	0	0	14383	1203	42	2	465	2	SIRPB1	20	1552374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	92000	1552374	61473146	19931	30248											
SIRPB1	10326	broad.mit.edu	37	chr20	1552659	1552659	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccctcaccgcagggcccGataccacgggggcagagggt	16	14	1	1	rs150061145	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552659G>A	ENST00000381605.4	-	3	522	c.458C>T	c.(457-459)tCg>tTg	p.S153L	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	153	Ig-like C1-type 1.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CGCAGGGCCCGATACCACGGG	0.517													.|||	13	0.00259585	0.0083	0.0014	5008	,	,		19290	0.001		0.0	False		,,,				2504	0.0					ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(457-459)tCg>tTg		signal-regulatory protein beta 1		A	,LEU/SER	11,4395		0,11,2192	94	88	90		,458	0.4	0	20	dbSNP_134	90	5,8595		0,5,4295	no	intron,missense	SIRPB1	NM_001083910.2,NM_006065.3	,145	0,16,6487	AA,AG,GG		0.0581,0.2497,0.123	,benign	,153/399	1552659	16,12990	2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552659G>A	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.458C>T	20.37:g.1552659G>A	ENSP00000371018:p.Ser153Leu					SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	p.S153L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			3	522	-			153			Ig-like C1-type 1.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.458C>T	CCDS13019.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	7.359	0.624406	0.14193	0.002497	5.81E-4	ENSG00000101307	ENST00000381605	T	0.00605	6.27	2.47	0.402	0.16344	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.340210	0.04873	N	0.446205	T	0.00875	0.0029	M	0.79805	2.47	0.09310	N	1	B	0.30482	0.281	B	0.16289	0.015	T	0.55379	-0.8150	10	0.16896	T	0.51	.	6.5628	0.22495	0.3001:0.0:0.6999:0.0	.	153	O00241	SIRB1_HUMAN	L	153	ENSP00000371018:S153L	ENSP00000371018:S153L	S	-	2	0	SIRPB1	1500659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	0.003000	0.14656	-1.489000	0.00976	TCG		0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		16	444	0	0	0	1	0	16	444					A	1552659	G	A	1552659	3	1	79	1	0	0	0	0	1	0	0	0	14383	1059	37	1	750	1	SIRPB1	20	1552659	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	285	1552659	61472861	19932	30249											
SIRPB1	10326	broad.mit.edu	37	chr20	1559304	1559304	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caactgatacggacttttcaGgctgaatcacctgtagctcg	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1559304G>T	ENST00000381605.4	-	2	177	c.113C>A	c.(112-114)cCt>cAt	p.P38H	RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P38H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.P37H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P38H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	38	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						GGACTTTTCAGGCTGAATCAC	0.527																																						ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(112-114)cCt>cAt		signal-regulatory protein beta 1							86	80	82					20																	1559304		2198	4242	6440	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559304G>T	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.113C>A	20.37:g.1559304G>T	ENSP00000371018:p.Pro38His					SIRPB1_ENST00000262929.5_Missense_Mutation_p.P37H|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P38H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P38H	p.P38H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	177	-			38			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.113C>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	12.97	2.097629	0.37048	.	.	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.67523	-0.27;-0.27;-0.27	2.36	1.33	0.21861	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.200859	0.35525	N	0.003142	T	0.81870	0.4914	M	0.92169	3.28	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.71066	-0.4700	10	0.87932	D	0	.	6.7971	0.23731	0.0:0.2943:0.7057:0.0	.	38;38	O00241;O00241-2	SIRB1_HUMAN;.	H	38;38;37	ENSP00000371018:P38H;ENSP00000371016:P38H;ENSP00000262929:P37H	ENSP00000262929:P37H	P	-	2	0	SIRPB1	1507304	1.000000	0.71417	0.206000	0.23566	0.062000	0.15995	2.807000	0.47955	0.299000	0.22661	0.462000	0.41574	CCT		0.527	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		10	560	1	0	0.000442599	1	0.000448314	10	560					T	1559304	G	T	1559304	3	4	79	1	0	0	0	0	1	0	0	0	14383	1000	35	3	1099	3	SIRPB1	20	1559304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6645	1559304	61466216	19933	30250											
SIRPB1	10326	broad.mit.edu	37	chr20	1592006	1592006	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccacgctgtactcaccacGcacagacagctcggtgcctg	10	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1592006G>A	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.R144C|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.R144C|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TACTCACCACGCACAGACAGC	0.532																																						ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(430-432)Cgt>Tgt		signal-regulatory protein beta 1							71	74	73					20																	1592006		299	1036	1335	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592006G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8508C>T	20.37:g.1592006G>A						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.R144C	p.R144C	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	494	-			144					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.430C>T	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	9.895	1.205292	0.22205	.	.	ENSG00000101307	ENST00000279477;ENST00000381596	T	0.02323	4.34	2.65	0.0409	0.14211	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03390	0.0098	L	0.49350	1.555	0.19575	N	0.999964	P	0.50528	0.936	B	0.42112	0.376	T	0.43877	-0.9364	9	0.38643	T	0.18	.	6.7731	0.23604	0.0:0.0:0.4974:0.5026	.	144	Q5TFQ8	SIRBL_HUMAN	C	144	ENSP00000279477:R144C	ENSP00000279477:R144C	R	-	1	0	SIRPB1	1540006	0.008000	0.16893	0.200000	0.23457	0.013000	0.08279	-0.239000	0.08965	-0.147000	0.11254	-0.718000	0.03613	CGT		0.532	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		72	128	0	0	0	1	0	72	128					A	1592006	G	A	1592006	1	1	79	0	1	0	0	0	0	0	0	0	14383	1087	38	1		1	SIRPB1	20	1592006	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32702	1592006	61433514	19934	30251											
SIRPB1	10326	broad.mit.edu	37	chr20	1592091	1592091	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcacacagtagtaggtgccGgcatctgctggggtgatgtt	14	8	2	1	rs541268179	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1592091G>A	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Silent_p.A115A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Silent_p.A115A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTAGGTGCCGGCATCTGCTG	0.537													g|||	3	0.000599042	0.0	0.0043	5008	,	,		5460	0.0		0.0	False		,,,				2504	0.0					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(343-345)gcC>gcT		signal-regulatory protein beta 1							83	97	94					20																	1592091		429	1306	1735	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592091G>A	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8423C>T	20.37:g.1592091G>A						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.A115A	p.A115A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	409	-			115			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.345C>T	CCDS13019.1																																																																																				0.537	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		109	225	0	0	0	1	0	109	225					A	1592091	G	A	1592091	1	1	79	0	1	0	0	0	0	0	0	0	14383	1103	39	1		1	SIRPB1	20	1592091	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85	1592091	61433429	19935	30252											
SIRPG	55423	broad.mit.edu	37	chr20	1615981	1615981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcaaggcgtttgctgaccGccagctgcccatcatgcttc	12	14	1	1	rs41275434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1615981G>A	ENST00000303415.3	-	4	1077	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	SIRPG_ENST00000381580.1_Missense_Mutation_p.A305V|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	338	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						TTTGCTGACCGCCAGCTGCCC	0.507													a|||	2	0.000399361	0.0008	0.0	5008	,	,		17425	0.0		0.001	False		,,,				2504	0.0					ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(913-915)gCg>gTg		signal-regulatory protein gamma		A	,VAL/ALA,	0,4406		0,0,2203	119	96	104		,1013,	-0.7	0	20	dbSNP_127	104	8,8592		0,8,4292	yes	intron,missense,intron	SIRPG	NM_001039508.1,NM_018556.3,NM_080816.2	,64,	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	,benign,	,338/388,	1615981	8,12998	2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1615981G>A	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.1013C>T	20.37:g.1615981G>A	ENSP00000305529:p.Ala338Val					RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.A338V	p.A305V			Q9P1W8	SIRPG_HUMAN			4	1093	-			338			Ig-like C1-type 2.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.914C>T	CCDS13020.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	6.004	0.369084	0.11352	0.0	9.3E-4	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.12255	3.11;2.7	1.6	-0.664	0.11406	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.736109	0.12511	N	0.462442	T	0.09069	0.0224	M	0.65677	2.01	0.09310	N	1	P	0.50943	0.94	B	0.31442	0.13	T	0.26467	-1.0102	10	0.42905	T	0.14	.	2.2338	0.04003	0.1987:0.0:0.5027:0.2987	rs41275434	338	Q9P1W8	SIRPG_HUMAN	V	305;338	ENSP00000370992:A305V;ENSP00000305529:A338V	ENSP00000305529:A338V	A	-	2	0	SIRPG	1563981	0.000000	0.05858	0.004000	0.12327	0.033000	0.12548	0.175000	0.16762	-0.163000	0.10946	-1.051000	0.02340	GCG		0.507	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		77	333	0	0	0	1	0	77	333					A	1615981	G	A	1615981	3	1	79	1	0	0	0	0	1	0	0	0	14386	1087	38	1	158	1	SIRPG	20	1615981	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23890	1615981	61409539	19936	30253											
SIRPG	55423	broad.mit.edu	37	chr20	1629742	1629742	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccagacttaaactccacgTtctcagggctcccttttcga	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1629742T>C	ENST00000303415.3	-	2	450	c.386A>G	c.(385-387)aAc>aGc	p.N129S	SIRPG_ENST00000381580.1_Missense_Mutation_p.N96S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	129	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AAACTCCACGTTCTCAGGGCT	0.483																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(286-288)aAc>aGc		signal-regulatory protein gamma							223	195	204					20																	1629742		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1629742T>C	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.386A>G	20.37:g.1629742T>C	ENSP00000305529:p.Asn129Ser					SIRPG_ENST00000344103.4_Missense_Mutation_p.N129S|SIRPG_ENST00000216927.4_Missense_Mutation_p.N129S|SIRPG_ENST00000381583.2_Missense_Mutation_p.N129S|SIRPG_ENST00000303415.3_Missense_Mutation_p.N129S	p.N96S			Q9P1W8	SIRPG_HUMAN			2	466	-			129			Ig-like V-type.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.287A>G	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.39	1.924031	0.34002	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.02916	4.11;4.11;4.11;4.11;4.11	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.187422	0.37437	N	0.002092	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19583	0.03;0.032;0.037	B;B;B	0.16722	0.009;0.006;0.016	T	0.49360	-0.8948	10	0.09843	T	0.71	.	5.8652	0.18771	0.0:0.0:0.0:1.0	.	129;129;129	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	S	96;129;129;129;129	ENSP00000370992:N96S;ENSP00000342759:N129S;ENSP00000305529:N129S;ENSP00000370995:N129S;ENSP00000216927:N129S	ENSP00000216927:N129S	N	-	2	0	SIRPG	1577742	0.005000	0.15991	0.009000	0.14445	0.664000	0.39144	1.424000	0.34848	1.143000	0.42306	0.164000	0.16699	AAC		0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		22	549	0	0	0	1	0	22	549					C	1629742	T	C	1629742	3	2	79	1	0	0	0	0	1	0	0	0	14386	1725	60	4	793	4	SIRPG	20	1629742	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13761	1629742	61395778	19937	30254											
SIRPA	140885	broad.mit.edu	37	chr20	1896098	1896098	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggcactgagctgtctgtgCgcggtgagtacagcgtgggc	17	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1896098C>A	ENST00000358771.4	+	2	585	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S|SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	145					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCTGTCTGTGCGCGGTGAGTA	0.542																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(433-435)Cgc>Agc		signal-regulatory protein alpha							103	91	95					20																	1896098		2203	4298	6501	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1896098C>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.433C>A	20.37:g.1896098C>A	ENSP00000351621:p.Arg145Ser					SIRPA_ENST00000356025.3_Missense_Mutation_p.R145S|SIRPA_ENST00000400068.3_Missense_Mutation_p.R145S	p.R145S	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	2	585	+			145					A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.433C>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393833	0.11638	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02085	4.46;4.46;4.46	5.11	-3.87	0.04218	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.012980	0.07889	N	0.970802	T	0.01189	0.0039	N	0.01705	-0.755	0.09310	N	1	B;B;B	0.23316	0.005;0.083;0.005	B;B;B	0.13407	0.005;0.009;0.005	T	0.48186	-0.9057	10	0.16420	T	0.52	.	17.2156	0.86943	0.2185:0.7815:0.0:0.0	.	125;145;145	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	S	145	ENSP00000382941:R145S;ENSP00000348307:R145S;ENSP00000351621:R145S	ENSP00000348307:R145S	R	+	1	0	SIRPA	1844098	0.027000	0.19231	0.010000	0.14722	0.037000	0.13140	-0.010000	0.12743	-0.921000	0.03794	-0.410000	0.06199	CGC		0.542	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		29	406	1	0	2.32173e-10	1	2.46079e-10	29	406					A	1896098	C	A	1896098	3	1	79	1	0	0	0	0	1	0	0	0	14382	768	27	3	439	3	SIRPA	20	1896098	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	266356	1896098	61129422	19938	30255											
SIRPA	140885	broad.mit.edu	37	chr20	1903222	1903222	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcatgacgggcagccaGcggtcagcaaaagccatgac	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1903222G>A	ENST00000358771.4	+	4	1170	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T|SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	340	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CGGGCAGCCAGCGGTCAGCAA	0.577																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(1018-1020)Gcg>Acg		signal-regulatory protein alpha							56	48	50					20																	1903222		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1903222G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.1018G>A	20.37:g.1903222G>A	ENSP00000351621:p.Ala340Thr					SIRPA_ENST00000356025.3_Missense_Mutation_p.A340T|SIRPA_ENST00000400068.3_Missense_Mutation_p.A340T	p.A340T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1170	+			340			Ig-like C1-type 2.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.1018G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142702	0.57044	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.09073	3.02;3.02;3.02	5.35	3.26	0.37387	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.593939	0.16053	N	0.231870	T	0.13500	0.0327	M	0.79475	2.455	0.09310	N	1	P;D;P	0.54047	0.79;0.964;0.889	B;B;P	0.44732	0.286;0.441;0.459	T	0.12656	-1.0539	10	0.48119	T	0.1	.	8.1172	0.30950	0.0:0.1926:0.6346:0.1728	.	320;340;340	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	340	ENSP00000382941:A340T;ENSP00000348307:A340T;ENSP00000351621:A340T	ENSP00000348307:A340T	A	+	1	0	SIRPA	1851222	0.048000	0.20356	0.113000	0.21522	0.081000	0.17604	1.072000	0.30678	1.607000	0.50170	-0.211000	0.12701	GCG		0.577	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		40	136	0	0	0	1	0	40	136					A	1903222	G	A	1903222	3	1	79	1	0	0	0	0	1	0	0	0	14382	971	34	2	1032	2	SIRPA	20	1903222	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7124	1903222	61122298	19939	30256											
PDYN	5173	broad.mit.edu	37	chr20	1961097	1961097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgagcttgggacgaatgcGccgcaagaagcccccatagc	12	13	0	2	rs150455107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961097G>A	ENST00000217305.2	-	4	862	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	213					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R213C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACGAATGCGCCGCAAGAAG	0.597																																						ENST00000217305.2																			1	Substitution - Missense(1)	p.R213C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(637-639)Cgc>Tgc		prodynorphin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	101	112	108		637,637,637,637,637	4	1	20	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	213/255,213/255,213/255,213/255,213/255	1961097	1,13005	2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961097G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.637C>T	20.37:g.1961097G>A	ENSP00000217305:p.Arg213Cys					PDYN_ENST00000540134.1_Missense_Mutation_p.R213C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R213C	p.R213C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	862	-			213					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.637C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055632	0.75960	0.0	1.16E-4	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.83591	-1.74;-1.74;-1.74	5.0	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90666	0.4594	10	0.52906	T	0.07	-19.9746	9.944	0.41598	0.0:0.0:0.7025:0.2975	.	213	P01213	PDYN_HUMAN	C	213	ENSP00000440185:R213C;ENSP00000442259:R213C;ENSP00000217305:R213C	ENSP00000217305:R213C	R	-	1	0	PDYN	1909097	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.681000	0.37618	2.603000	0.88011	0.313000	0.20887	CGC		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			137	578	0	0	0	1	0	137	578					A	1961097	G	A	1961097	3	1	79	1	0	0	0	0	1	0	0	0	11741	1087	38	1	131	1	PDYN	20	1961097	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57875	1961097	61064423	19940	30257											
PDYN	5173	broad.mit.edu	37	chr20	1961244	1961244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttggggtcctcctcagCgagatagagtgtgccagtct	12	12	2	2	rs376124198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961244C>T	ENST00000217305.2	-	4	715	c.490G>A	c.(490-492)Gct>Act	p.A164T	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	164					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.A164P(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCTCAGCGAGATAGAGT	0.597																																						ENST00000217305.2																			1	Substitution - Missense(1)	p.A164P(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(490-492)Gct>Act		prodynorphin		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	107	104	105		490,490,490,490,490	-8.3	0	20		105	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	PDYN	NM_001190892.1,NM_001190898.2,NM_001190899.2,NM_001190900.1,NM_024411.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	164/255,164/255,164/255,164/255,164/255	1961244	1,13005	2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961244C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.490G>A	20.37:g.1961244C>T	ENSP00000217305:p.Ala164Thr					PDYN_ENST00000540134.1_Missense_Mutation_p.A164T|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.A164T	p.A164T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	715	-			164					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.490G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	6.449	0.451015	0.12223	2.27E-4	0.0	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80214	-1.35;-1.35;-1.35	4.71	-8.27	0.01017	.	2.758650	0.00899	N	0.002322	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.10450	0.005	T	0.54543	-0.8278	10	0.10636	T	0.68	0.0995	8.2662	0.31815	0.0:0.2269:0.3021:0.4711	.	164	P01213	PDYN_HUMAN	T	164	ENSP00000440185:A164T;ENSP00000442259:A164T;ENSP00000217305:A164T	ENSP00000217305:A164T	A	-	1	0	PDYN	1909244	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.574000	0.05868	-1.675000	0.01459	-1.579000	0.00862	GCT		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			82	462	0	0	0	1	0	82	462					T	1961244	C	T	1961244	3	4	79	1	0	0	0	0	1	0	0	0	11741	768	27	1	278	1	PDYN	20	1961244	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	147	1961244	61064276	19941	30258											
STK35	140901	broad.mit.edu	37	chr20	2097346	2097346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttatgctgaggagccctgCtatctctggtttgtcatgga	13	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2097346C>T	ENST00000381482.3	+	3	1198	c.927C>T	c.(925-927)tgC>tgT	p.C309C	STK35_ENST00000246032.3_Silent_p.C176C|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	309	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						AGGAGCCCTGCTATCTCTGGT	0.473																																						ENST00000381482.3																			0				large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						c.(925-927)tgC>tgT		serine/threonine kinase 35							193	183	186					20																	2097346		2203	4300	6503	SO:0001819	synonymous_variant	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097346C>T	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.927C>T	20.37:g.2097346C>T						STK35_ENST00000400064.3_Intron|STK35_ENST00000246032.3_Silent_p.C176C	p.C309C			Q8TDR2	STK35_HUMAN			3	1198	+			309			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	37	c.927C>T	CCDS13024.2																																																																																				0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		121	577	0	0	0	1	0	121	577					T	2097346	C	T	2097346	2	4	79	1	0	0	0	0	0	0	0	1	15353	805	28	2		2	STK35	20	2097346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136102	2097346	60928174	19942	30259											
TGM3	7053	broad.mit.edu	37	chr20	2298000	2298000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccctgacttgcagcgctGcggtctttggggattccttc	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2298000G>A	ENST00000381458.5	+	7	915	c.852G>A	c.(850-852)ctG>ctA	p.L284L	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	284					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)	TTGCAGCGCTGCGGTCTTTGG	0.577																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(850-852)ctG>ctA		transglutaminase 3	L-Glutamine(DB00130)						137	118	124					20																	2298000		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2298000G>A	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.852G>A	20.37:g.2298000G>A						TGM3_ENST00000463090.1_3'UTR	p.L284L	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			7	915	+			284					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.852G>A	CCDS33435.1																																																																																				0.577	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		102	521	0	0	0	1	0	102	521					A	2298000	G	A	2298000	2	1	79	1	0	0	0	0	0	0	0	1	15883	1306	46	2		2	TGM3	20	2298000	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200654	2298000	60727520	19943	30260											
TGM3	7053	broad.mit.edu	37	chr20	2308989	2308989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgctcgcatggacgtcacGgacaagtacaagtacccaga	10	11	1	1	rs540980778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2308989G>A	ENST00000381458.5	+	9	1374	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	437					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)	TGGACGTCACGGACAAGTACA	0.567																																						ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1309-1311)acG>acA		transglutaminase 3	L-Glutamine(DB00130)						87	72	77					20																	2308989		2203	4300	6503	SO:0001819	synonymous_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2308989G>A	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.1311G>A	20.37:g.2308989G>A							p.T437T	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			9	1374	+			437					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	ENST00000381458.5	37	c.1311G>A	CCDS33435.1																																																																																				0.567	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		42	197	0	0	0	1	0	42	197					A	2308989	G	A	2308989	2	1	79	1	0	0	0	0	0	0	0	1	15883	1103	39	1		1	TGM3	20	2308989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10989	2308989	60716531	19944	30261											
TGM6	343641	broad.mit.edu	37	chr20	2384147	2384147	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggaggagagtgaagGtacgctcaattgggtggggt	17	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2384147G>T	ENST00000202625.2	+	8	1154		c.e8+1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						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)	GAGAGTGAAGGTACGCTCAAT	0.602																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.e8+1		transglutaminase 6	L-Glutamine(DB00130)						69	67	67					20																	2384147		2203	4300	6503	SO:0001630	splice_region_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384147G>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1093+1G>T	20.37:g.2384147G>T						TGM6_ENST00000381423.1_Splice_Site		NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			8	1154	+								Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Splice_Site	SNP	ENST00000202625.2	37		CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336713	0.60963	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0187	0.80464	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM6	2332147	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.866000	0.99616	2.735000	0.93741	0.549000	0.68633	.		0.602	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994	Intron	110	433	1	0	6.50375e-52	1	8.08219e-52	110	433					T	2384147	G	T	2384147	5	4	79	1	0	0	0	0	0	0	1	0	15886	1275	44	3	1124	3	TGM6	20	2384147	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75158	2384147	60641373	19945	30262											
TGM6	343641	broad.mit.edu	37	chr20	2398031	2398031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagcccagcatcgctgGcaagttcaaggtgctagagc	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2398031G>A	ENST00000202625.2	+	10	1551	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	497					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)	AGCATCGCTGGCAAGTTCAAG	0.652																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1489-1491)gGc>gAc		transglutaminase 6	L-Glutamine(DB00130)						43	39	40					20																	2398031		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2398031G>A	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.1490G>A	20.37:g.2398031G>A	ENSP00000202625:p.Gly497Asp					TGM6_ENST00000381423.1_Missense_Mutation_p.G497D	p.G497D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			10	1551	+			497					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1490G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195447	0.58126	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.68624	-0.34;-0.34	4.67	4.67	0.58626	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.062472	0.64402	D	0.000004	T	0.80813	0.4695	M	0.79258	2.445	0.42971	D	0.994436	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83263	-0.0047	10	0.72032	D	0.01	-38.5886	12.9459	0.58371	0.0:0.0:1.0:0.0	.	497;497	O95932-2;O95932	.;TGM3L_HUMAN	D	497	ENSP00000202625:G497D;ENSP00000370831:G497D	ENSP00000202625:G497D	G	+	2	0	TGM6	2346031	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.429000	0.66495	2.437000	0.82529	0.655000	0.94253	GGC		0.652	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		42	148	0	0	0	1	0	42	148					A	2398031	G	A	2398031	3	1	79	1	0	0	0	0	1	0	0	0	15886	1203	42	2	1528	2	TGM6	20	2398031	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13884	2398031	60627489	19946	30263											
ZNF343	79175	broad.mit.edu	37	chr20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacttatgactaaagcctcGcccacactccctacaaacat	4	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2463857G>A	ENST00000278772.4	-	6	2237	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	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	584					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.R584*(1)		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						CTAAAGCCTCGCCCACACTCC	0.522																																						ENST00000278772.4																			1	Substitution - Nonsense(1)	p.R584*(1)	large_intestine(1)	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						c.(1750-1752)Cga>Tga		zinc finger protein 343							101	83	89					20																	2463857		2203	4300	6503	SO:0001587	stop_gained	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2463857G>A	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.1750C>T	20.37:g.2463857G>A	ENSP00000278772:p.Arg584*					RP4-734P14.4_ENST00000461548.1_Intron	p.R584*	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	2237	-			584					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Nonsense_Mutation	SNP	ENST00000278772.4	37	c.1750C>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	38	7.002011	0.97994	.	.	ENSG00000088876	ENST00000278772	.	.	.	2.65	0.578	0.17391	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	2.4345	0.04479	0.2901:0.0:0.4746:0.2353	.	.	.	.	X	584	.	ENSP00000278772:R584X	R	-	1	2	ZNF343	2411857	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.504000	0.06375	0.035000	0.15519	0.591000	0.81541	CGA		0.522	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		64	286	0	0	0	1	0	64	286					A	2463857	G	A	2463857	4	1	79	1	0	0	0	0	0	1	0	0	17911	1095	38	1	53	1	ZNF343	20	2463857	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65826	2463857	60561663	19947	30264											
TMC2	117532	broad.mit.edu	37	chr20	2552886	2552886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggggaaaggcaagcaaCtatatgcctacaagatgctg	12	7	0	1	rs368277548		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2552886C>T	ENST00000358864.1	+	5	631	c.616C>T	c.(616-618)Cta>Tta	p.L206L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	206	Arg/Asp/Glu/Lys-rich (highly charged).				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGCAAGCAACTATATGCCTA	0.498																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(616-618)Cta>Tta		transmembrane channel-like 2							118	111	113					20																	2552886		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2552886C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.616C>T	20.37:g.2552886C>T							p.L206L	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			5	631	+			206			Arg/Asp/Glu/Lys-rich (highly charged).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.616C>T	CCDS13029.2																																																																																				0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			56	251	0	0	0	1	0	56	251					T	2552886	C	T	2552886	2	4	79	1	0	0	0	0	0	0	0	1	16037	564	20	2		2	TMC2	20	2552886	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89029	2552886	60472634	19948	30265											
TMC2	117532	broad.mit.edu	37	chr20	2597782	2597782	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcctgctgacctccatgTacttccagtgctgggcggtg	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2597782T>C	ENST00000358864.1	+	16	2020	c.2005T>C	c.(2005-2007)Tac>Cac	p.Y669H	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	669					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						GACCTCCATGTACTTCCAGTG	0.567																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2005-2007)Tac>Cac		transmembrane channel-like 2							155	117	130					20																	2597782		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2597782T>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2005T>C	20.37:g.2597782T>C	ENSP00000351732:p.Tyr669His					TMC2_ENST00000496948.1_3'UTR	p.Y669H	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			16	2020	+			669					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2005T>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.606491	0.87157	.	.	ENSG00000149488	ENST00000358864	T	0.79749	-1.3	5.35	5.35	0.76521	.	0.113958	0.64402	D	0.000008	D	0.89787	0.6816	M	0.82630	2.6	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.91210	0.4998	10	0.87932	D	0	-7.3629	13.5825	0.61911	0.0:0.0:0.0:1.0	.	669	Q8TDI7	TMC2_HUMAN	H	669	ENSP00000351732:Y669H	ENSP00000351732:Y669H	Y	+	1	0	TMC2	2545782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.145000	0.66743	0.528000	0.53228	TAC		0.567	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			71	296	0	0	0	1	0	71	296					C	2597782	T	C	2597782	3	2	79	1	0	0	0	0	1	0	0	0	16037	1638	57	4	2067	4	TMC2	20	2597782	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44896	2597782	60427738	19949	30266											
TMC2	117532	broad.mit.edu	37	chr20	2604978	2604978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgatttcccaaccttcCtgggcaagatctttgctttc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2604978C>A	ENST00000358864.1	+	17	2257	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	748					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						CCCAACCTTCCTGGGCAAGAT	0.498																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2242-2244)Ctg>Atg		transmembrane channel-like 2							188	139	156					20																	2604978		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2604978C>A	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.2242C>A	20.37:g.2604978C>A	ENSP00000351732:p.Leu748Met						p.L748M	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			17	2257	+			748					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2242C>A	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	C	8.481	0.859717	0.17178	.	.	ENSG00000149488	ENST00000358864	T	0.68025	-0.3	4.89	2.83	0.33086	.	0.337351	0.29987	N	0.010687	T	0.52125	0.1715	L	0.39147	1.195	0.26840	N	0.968397	B	0.19200	0.034	B	0.19946	0.027	T	0.35724	-0.9777	10	0.33940	T	0.23	-10.3691	7.3929	0.26919	0.1661:0.5411:0.2928:0.0	.	748	Q8TDI7	TMC2_HUMAN	M	748	ENSP00000351732:L748M	ENSP00000351732:L748M	L	+	1	2	TMC2	2552978	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	0.378000	0.20569	2.429000	0.82318	0.557000	0.71058	CTG		0.498	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			103	371	1	0	3.46703e-50	1	4.29469e-50	103	371					A	2604978	C	A	2604978	3	1	79	1	0	0	0	0	1	0	0	0	16037	680	24	3	2308	3	TMC2	20	2604978	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7196	2604978	60420542	19950	30267											
NOP56	10528	broad.mit.edu	37	chr20	2636076	2636076	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccgaagggaactgaatgaGgacaagctggagaagctgga	15	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636076G>T	ENST00000329276.5	+	6	1191	c.675G>T	c.(673-675)gaG>gaT	p.E225D	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	225					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACTGAATGAGGACAAGCTGG	0.542																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(673-675)gaG>gaT		NOP56 ribonucleoprotein							127	122	124					20																	2636076		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636076G>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.675G>T	20.37:g.2636076G>T	ENSP00000370589:p.Glu225Asp						p.E225D	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			6	1191	+			225					Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.675G>T	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	G	7.609	0.674327	0.14841	.	.	ENSG00000101361	ENST00000329276;ENST00000445139	T;T	0.76578	-1.03;0.88	5.69	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	N	0.11651	0.15	0.54753	D	0.999985	B	0.17465	0.022	B	0.14578	0.011	T	0.25222	-1.0138	10	0.16420	T	0.52	-23.0047	14.4351	0.67274	0.2564:0.0:0.7436:0.0	.	225	O00567	NOP56_HUMAN	D	225;254	ENSP00000370589:E225D;ENSP00000388497:E254D	ENSP00000370589:E225D	E	+	3	2	NOP56	2584076	1.000000	0.71417	0.770000	0.31555	0.980000	0.70556	1.873000	0.39558	-0.531000	0.06340	0.561000	0.74099	GAG		0.542	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		79	323	1	0	1.43161e-34	1	1.70348e-34	79	323					T	2636076	G	T	2636076	3	4	79	1	0	0	0	0	1	0	0	0	10581	991	35	3	697	3	NOP56	20	2636076	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31098	2636076	60389444	19951	30268											
NOP56	10528	broad.mit.edu	37	chr20	2636275	2636275	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccattgacttgataaacatCgagagcttctccagtcgtgt	9	10	1	3	rs147425088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	264					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.I264I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498																																						ENST00000329276.5																			1	Substitution - coding silent(1)	p.I264I(1)	large_intestine(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(790-792)atC>atT		NOP56 ribonucleoprotein		C		4,4402	8.1+/-20.4	0,4,2199	157	151	153		792	-0.6	1	20	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	NOP56	NM_006392.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		264/595	2636275	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636275C>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.792C>T	20.37:g.2636275C>T							p.I264I	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			7	1308	+			264			Nop.		Q2M3T6|Q9NQ05	Silent	SNP	ENST00000329276.5	37	c.792C>T	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637467	0.14386	9.08E-4	0.0	ENSG00000101361	ENST00000415272	.	.	.	4.9	-0.592	0.11671	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	-15.8854	4.1248	0.10123	0.1696:0.339:0.0:0.4913	.	.	.	.	L	5	.	.	S	+	2	0	NOP56	2584275	0.809000	0.29036	0.998000	0.56505	0.992000	0.81027	-0.068000	0.11561	0.024000	0.15214	-0.258000	0.10820	TCG		0.498	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		113	477	0	0	0	1	0	113	477					T	2636275	C	T	2636275	2	4	79	1	0	0	0	0	0	0	0	1	10581	874	31	1		1	NOP56	20	2636275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	2636275	60389245	19952	30269											
NOP56	10528	broad.mit.edu	37	chr20	2636638	2636638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacctggccaagtatccagCatccacagtgcagatccttg	8	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636638C>T	ENST00000329276.5	+	8	1484	c.968C>T	c.(967-969)gCa>gTa	p.A323V	SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|NOP56_ENST00000492135.1_3'UTR|SNORA51_ENST00000606420.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD110_ENST00000408189.1_RNA|SNORD56_ENST00000413522.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	323	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGTATCCAGCATCCACAGTG	0.557																																						ENST00000329276.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(967-969)gCa>gTa		NOP56 ribonucleoprotein							81	65	70					20																	2636638		2203	4300	6503	SO:0001583	missense	10528				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	g.chr20:2636638C>T	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.968C>T	20.37:g.2636638C>T	ENSP00000370589:p.Ala323Val					NOP56_ENST00000492135.1_3'UTR	p.A323V	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN			8	1484	+			323			Nop.		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	ENST00000329276.5	37	c.968C>T	CCDS13030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.569305|4.569305	0.86439|0.86439	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	D|.	0.81579|.	-1.51|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);|.	0.097174|.	0.64402|.	D|.	0.000001|.	D|D	0.91637|0.91637	0.7357|0.7357	H|H	0.99877|0.99877	4.88|4.88	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79108|.	0.992;0.986|.	D|D	0.94971|0.94971	0.8117|0.8117	10|5	0.87932|.	D|.	0|.	-12.1857|-12.1857	14.7342|14.7342	0.69404|0.69404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70;323|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|Y	323;70|64	ENSP00000370589:A323V|.	ENSP00000370589:A323V|.	A|H	+|+	2|1	0|0	NOP56|NOP56	2584638|2584638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.640000|7.640000	0.83355|0.83355	2.532000|2.532000	0.85374|0.85374	0.561000|0.561000	0.74099|0.74099	GCA|CAT		0.557	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		37	196	0	0	0	1	0	37	196					T	2636638	C	T	2636638	3	4	79	1	0	0	0	0	1	0	0	0	10581	710	25	2	998	2	NOP56	20	2636638	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	363	2636638	60388882	19953	30270											
CPXM1	56265	broad.mit.edu	37	chr20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccatgccagtacccagctCatgctccccaggcttgtccg	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					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						GTACCCAGCTCATGCTCCCCA	0.612																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1039-1041)Gag>Aag		carboxypeptidase X (M14 family), member 1							168	161	163					20																	2777179		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2777179C>T	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.1039G>A	20.37:g.2777179C>T	ENSP00000369979:p.Glu347Lys						p.E347K	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			8	1103	-			347					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1039G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958823	0.92726	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10860	2.83	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.05699	-1.0869	10	0.66056	D	0.02	-34.914	16.7686	0.85531	0.0:1.0:0.0:0.0	.	347;347	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	347;43	ENSP00000369979:E347K	ENSP00000369979:E347K	E	-	1	0	CPXM1	2725179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.825000	0.97269	0.655000	0.94253	GAG		0.612	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		109	494	0	0	0	1	0	109	494					T	2777179	C	T	2777179	3	4	79	1	0	0	0	0	1	0	0	0	3846	835	29	2	1193	2	CPXM1	20	2777179	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140541	2777179	60248341	19954	30271											
FAM113A	64773	broad.mit.edu	37	chr20	2816204	2816204	+	Frame_Shift_Del	DEL	C	C	-													ctgagccgctgcctgcagggCccccccattctccgcacatg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2816204delC	ENST00000360652.2	-	8	1771	c.1269delG	c.(1267-1269)gggfs	p.G423fs	PCED1A_ENST00000356872.3_Frame_Shift_Del_p.G372fs	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	423																	GCCTGCAGGGCCCCCCCATTC	0.622																																						ENST00000360652.2																			0											c.(1267-1269)ggfs		PC-esterase domain containing 1A							61	58	59					20																	2816204		2203	4300	6503	SO:0001589	frameshift_variant	64773							g.chr20:2816204delC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1269delG	20.37:g.2816204delC	ENSP00000353868:p.Gly423fs					PCED1A_ENST00000356872.3_Frame_Shift_Del_p.G372fs	p.G423fs	NM_022760.3	NP_073597.2					8	1771	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Frame_Shift_Del	DEL	ENST00000360652.2	37	c.1269delG	CCDS13035.1																																																																																				0.622	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		7	348						7	348	---	---	---	---	-	2816204	C	-	2816204	7	5	79	1	0	1	0	1	0	0	0	0	5422	726	26	0	99	0	FAM113A	20	2816204	Frame_Shift_Del	DEL	C	TCGA-IB-7651-01A-11D-2154-08	39025	2816204	60209316	19955	30272											
FAM113A	64773	broad.mit.edu	37	chr20	2820524	2820524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtcgcttcgcagcgggCggcgcggctcctcgctcgac	14	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2820524C>T	ENST00000360652.2	-	2	537	c.35G>A	c.(34-36)cGc>cAc	p.R12H	VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R12H|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	12																	TCGCAGCGGGCGGCGCGGCTC	0.637																																						ENST00000360652.2																			0											c.(34-36)cGc>cAc		PC-esterase domain containing 1A							84	77	79					20																	2820524		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2820524C>T	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.35G>A	20.37:g.2820524C>T	ENSP00000353868:p.Arg12His					PCED1A_ENST00000356872.3_Missense_Mutation_p.R12H	p.R12H	NM_022760.3	NP_073597.2					2	537	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.35G>A	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940443	0.52972	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.48201	0.82;0.85;0.83;0.88	3.83	0.774	0.18521	.	0.377525	0.19589	N	0.110673	T	0.28433	0.0703	L	0.36672	1.1	0.26761	N	0.969998	P;P	0.47106	0.89;0.768	B;B	0.37480	0.251;0.178	T	0.21655	-1.0239	10	0.56958	D	0.05	-1.497	3.2938	0.06958	0.2196:0.5572:0.0:0.2232	.	12;12	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	H	12	ENSP00000349334:R12H;ENSP00000353868:R12H;ENSP00000388935:R12H;ENSP00000401711:R12H	ENSP00000349334:R12H	R	-	2	0	FAM113A	2768524	0.891000	0.30450	0.747000	0.31113	0.709000	0.40893	0.083000	0.14871	0.187000	0.20147	-0.140000	0.14226	CGC		0.637	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		57	221	0	0	0	1	0	57	221					T	2820524	C	T	2820524	3	4	79	1	0	0	0	0	1	0	0	0	5422	768	27	1	1357	1	FAM113A	20	2820524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4320	2820524	60204996	19956	30273											
GNRH2	2797	broad.mit.edu	37	chr20	3025459	3025459	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggtcccttcacaggaagCgacacctggcacggacactg	12	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3025459C>T	ENST00000245983.2	+	3	340	c.289C>T	c.(289-291)Cga>Tga	p.R97*	GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*|GNRH2_ENST00000380347.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	97					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						TCACAGGAAGCGACACCTGGC	0.637																																						ENST00000380347.2																			0				ovary(1)|upper_aerodigestive_tract(1)	2						c.(268-270)Cga>Tga		gonadotropin-releasing hormone 2							34	32	33					20																	3025459		2203	4300	6503	SO:0001587	stop_gained	2797				multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr20:3025459C>T	AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"Endogenous ligands"	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.289C>T	20.37:g.3025459C>T	ENSP00000245983:p.Arg97*					GNRH2_ENST00000380346.2_Nonsense_Mutation_p.R89*|GNRH2_ENST00000359100.2_Nonsense_Mutation_p.R90*|GNRH2_ENST00000359987.1_Nonsense_Mutation_p.R89*|GNRH2_ENST00000245983.2_Nonsense_Mutation_p.R97*	p.R90*			O43555	GON2_HUMAN			2	673	+			97					Q14C68|Q14C69|Q9BYN9|Q9BYP0	Nonsense_Mutation	SNP	ENST00000245983.2	37	c.268C>T	CCDS13040.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733969	0.48939	.	.	ENSG00000125787	ENST00000245983;ENST00000359100;ENST00000359987;ENST00000380347;ENST00000380346	.	.	.	4.44	2.47	0.30058	.	0.836298	0.09727	N	0.763668	.	.	.	.	.	.	0.38892	D	0.957146	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2486	0.26135	0.0:0.7859:0.0:0.2141	.	.	.	.	X	97;90;89;90;89	.	ENSP00000245983:R97X	R	+	1	2	GNRH2	2973459	0.998000	0.40836	0.047000	0.18901	0.031000	0.12232	2.886000	0.48578	0.571000	0.29365	0.655000	0.94253	CGA		0.637	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077694.2	NM_001501		20	104	0	0	0	1	0	20	104					T	3025459	C	T	3025459	4	4	79	1	0	0	0	0	0	1	0	0	6577	760	27	1	295	1	GNRH2	20	3025459	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	204935	3025459	60000061	19957	30274											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146582	3146582	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccccagagcccaggtggCctggccgccccatagatgac	11	18	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3146582C>T	ENST00000329152.3	-	2	2281	c.884G>A	c.(883-885)gGc>gAc	p.G295D	LZTS3_ENST00000337576.5_Missense_Mutation_p.G295D|LZTS3_ENST00000360342.3_Missense_Mutation_p.G295D			O60299	LZTS3_HUMAN		295						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GCCCAGGTGGCCTGGCCGCCC	0.706																																						ENST00000329152.3																			0											c.(883-885)gGc>gAc									22	23	23					20																	3146582		2182	4238	6420	SO:0001583	missense	0							g.chr20:3146582C>T																												ENST00000329152.3:c.884G>A	20.37:g.3146582C>T	ENSP00000332123:p.Gly295Asp					LZTS3_ENST00000360342.3_Missense_Mutation_p.G295D|LZTS3_ENST00000337576.5_Missense_Mutation_p.G295D	p.G295D	NM_014731.2	NP_055546.1					2	2281	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.884G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781651	0.70222	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.44881	0.91;1.45;1.45	5.46	4.42	0.53409	.	0.153278	0.31051	N	0.008350	T	0.22126	0.0533	N	0.24115	0.695	0.33561	D	0.59738	B;B	0.24426	0.103;0.063	B;B	0.25291	0.059;0.012	T	0.23048	-1.0199	10	0.12103	T	0.63	-17.3486	3.529	0.07770	0.0:0.6414:0.0:0.3585	.	295;295	O60299-2;O60299	.;PRIP1_HUMAN	D	295	ENSP00000332123:G295D;ENSP00000353496:G295D;ENSP00000338166:G295D	ENSP00000332123:G295D	G	-	2	0	RP5-1187M17.10	3094582	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.540000	0.60664	2.556000	0.86216	0.561000	0.74099	GGC		0.706	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			44	233	0	0	0	1	0	44	233					T	3146582	C	T	3146582	3	4	79	1	0	0	0	0	1	0	0	0	12920	739	26	2	1145	2	ProSAPiP1	20	3146582	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121123	3146582	59878938	19958	30275											
DDRGK1	65992	broad.mit.edu	37	chr20	3175985	3175985	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcctgctcctcgcgggccttCctctcctcctcctcctgtgg	9	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3175985C>T	ENST00000354488.3	-	5	582	c.525G>A	c.(523-525)agG>agA	p.R175R	DDRGK1_ENST00000380201.2_Silent_p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	175						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCGGGCCTTCCTCTCCTCCT	0.607																																						ENST00000354488.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(523-525)agG>agA		DDRGK domain containing 1							92	77	82					20																	3175985		2203	4300	6503	SO:0001819	synonymous_variant	65992					endoplasmic reticulum	protein binding	g.chr20:3175985C>T	AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.525G>A	20.37:g.3175985C>T						DDRGK1_ENST00000380201.2_Silent_p.R175R	p.R175R	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN			5	582	-			175					A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	ENST00000354488.3	37	c.525G>A	CCDS13050.1																																																																																				0.607	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077709.2	NM_023935		62	292	0	0	0	1	0	62	292					T	3175985	C	T	3175985	2	4	79	1	0	0	0	0	0	0	0	1	4349	854	30	2		2	DDRGK1	20	3175985	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29403	3175985	59849535	19959	30276											
SLC4A11	83959	broad.mit.edu	37	chr20	3209045	3209045	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcttcctctggggcaccctCcggatgtagtgtgtcggggg	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3209045C>A	ENST00000380056.3	-	18	2513	c.2466G>T	c.(2464-2466)cgG>cgT	p.R822R	SLC4A11_ENST00000539553.2_Silent_p.R806R|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.R849R	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	822	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						GGGGCACCCTCCGGATGTAGT	0.657																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(2545-2547)cgG>cgT		solute carrier family 4, sodium borate transporter, member 11							112	106	108					20																	3209045		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209045C>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2466G>T	20.37:g.3209045C>A						SLC4A11_ENST00000380056.3_Silent_p.R822R|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.R806R	p.R849R	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			19	2648	-			822			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.2547G>T	CCDS13052.1																																																																																				0.657	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			110	545	1	0	6.25226e-48	1	7.70577e-48	110	545					A	3209045	C	A	3209045	2	1	79	1	0	0	0	0	0	0	0	1	14702	842	30	3		3	SLC4A11	20	3209045	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33060	3209045	59816475	19960	30277											
SLC4A11	83959	broad.mit.edu	37	chr20	3212030	3212030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttccttcgttctcggCgccactggaccgtggctcac	11	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3212030C>T	ENST00000380056.3	-	7	989	c.942G>A	c.(940-942)gcG>gcA	p.A314A	SLC4A11_ENST00000539553.2_Silent_p.A298A|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Silent_p.A341A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	314					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						TCGTTCTCGGCGCCACTGGAC	0.657																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1021-1023)gcG>gcA		solute carrier family 4, sodium borate transporter, member 11							79	77	78					20																	3212030		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3212030C>T	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.942G>A	20.37:g.3212030C>T						SLC4A11_ENST00000380056.3_Silent_p.A314A|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.A298A	p.A341A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			8	1124	-			314					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1023G>A	CCDS13052.1																																																																																				0.657	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			69	327	0	0	0	1	0	69	327					T	3212030	C	T	3212030	2	4	79	1	0	0	0	0	0	0	0	1	14702	755	27	1		1	SLC4A11	20	3212030	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2985	3212030	59813490	19961	30278											
C20orf194	25943	broad.mit.edu	37	chr20	3245112	3245112	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atacattaaatatcgagatcGtagcatctcaggacttgaaa	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3245112G>A	ENST00000252032.9	-	31	2912	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	949										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TATCGAGATCGTAGCATCTCA	0.313																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2845-2847)Cga>Tga		chromosome 20 open reading frame 194							94	87	89					20																	3245112		1845	4094	5939	SO:0001587	stop_gained	25943							g.chr20:3245112G>A	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.2845C>T	20.37:g.3245112G>A	ENSP00000252032:p.Arg949*					C20orf194_ENST00000453730.2_3'UTR	p.R949*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			31	2912	-			949					Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	SNP	ENST00000252032.9	37	c.2845C>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937150	0.98571	.	.	ENSG00000088854	ENST00000252032	.	.	.	5.14	4.06	0.47325	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8059	0.46518	0.0:0.0:0.5873:0.4126	.	.	.	.	X	949	.	ENSP00000252032:R949X	R	-	1	2	C20orf194	3193112	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	5.333000	0.65917	2.548000	0.85928	0.650000	0.86243	CGA		0.313	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		41	174	0	0	0	1	0	41	174					A	3245112	G	A	3245112	4	1	79	1	0	0	0	0	0	1	0	0	2106	1153	40	1	716	1	C20orf194	20	3245112	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33082	3245112	59780408	19962	30279											
C20orf194	25943	broad.mit.edu	37	chr20	3363127	3363127	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctctgggtcaggatgCtctgaacctgccgaagtcga	13	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3363127C>T	ENST00000252032.9	-	2	177	c.110G>A	c.(109-111)aGc>aAc	p.S37N	U3_ENST00000364476.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	37										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGTCAGGATGCTCTGAACCTG	0.567																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(109-111)aGc>aAc		chromosome 20 open reading frame 194							57	60	59					20																	3363127		2029	4185	6214	SO:0001583	missense	25943							g.chr20:3363127C>T	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.110G>A	20.37:g.3363127C>T	ENSP00000252032:p.Ser37Asn						p.S37N	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			2	177	-			37					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.110G>A	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982398	0.53827	.	.	ENSG00000088854	ENST00000252032	T	0.19532	2.14	5.79	3.88	0.44766	.	0.564362	0.20972	N	0.082372	T	0.21267	0.0512	L	0.56769	1.78	0.58432	D	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.03576	-1.1023	10	0.72032	D	0.01	.	8.5911	0.33688	0.0:0.7658:0.0:0.2342	.	37	Q5TEA3	CT194_HUMAN	N	37	ENSP00000252032:S37N	ENSP00000252032:S37N	S	-	2	0	C20orf194	3311127	0.977000	0.34250	0.924000	0.36721	0.994000	0.84299	1.387000	0.34430	0.796000	0.33947	0.655000	0.94253	AGC		0.567	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		26	187	0	0	0	1	0	26	187					T	3363127	C	T	3363127	3	4	79	1	0	0	0	0	1	0	0	0	2106	797	28	2	3567	2	C20orf194	20	3363127	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118015	3363127	59662393	19963	30280											
ATRN	8455	broad.mit.edu	37	chr20	3564588	3564588	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cggacaccatgtgccttgagGacagcatgtggagattgcac	13	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3564588G>T	ENST00000262919.5	+	17	2876	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	936	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						GTGCCTTGAGGACAGCATGTG	0.547																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2806-2808)agG>agT		attractin							268	229	242					20																	3564588		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3564588G>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2808G>T	20.37:g.3564588G>T	ENSP00000262919:p.Arg936Ser					ATRN_ENST00000446916.2_Missense_Mutation_p.R936S	p.R936S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			17	2876	+			936			PSI 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2808G>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455521	0.63401	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.17054	3.24;2.3	5.64	2.66	0.31614	.	0.047709	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69463	2.115	0.53688	D	0.999976	P;D	0.89917	0.757;1.0	B;D	0.83275	0.155;0.996	T	0.02031	-1.1226	10	0.31617	T	0.26	-17.2408	8.0937	0.30816	0.1629:0.117:0.7201:0.0	.	936;936	O75882;O75882-2	ATRN_HUMAN;.	S	936;936;862	ENSP00000262919:R936S;ENSP00000416587:R936S	ENSP00000262919:R936S	R	+	3	2	ATRN	3512588	0.999000	0.42202	0.978000	0.43139	0.990000	0.78478	0.881000	0.28173	0.331000	0.23511	0.585000	0.79938	AGG		0.547	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		182	804	1	0	1.50726e-91	1	1.93564e-91	182	804					T	3564588	G	T	3564588	3	4	79	1	0	0	0	0	1	0	0	0	1207	1165	41	3	2874	3	ATRN	20	3564588	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	201461	3564588	59460932	19964	30281											
ADAM33	80332	broad.mit.edu	37	chr20	3660157	3660157	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accggctcctccaggctgacGgtgcgccagggttgtccatc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3660157G>A	ENST00000356518.2	-	2	400	c.159C>T	c.(157-159)acC>acT	p.T53T	ADAM33_ENST00000350009.2_Silent_p.T53T|ADAM33_ENST00000379861.4_Silent_p.T53T	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	53					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCAGGCTGACGGTGCGCCAGG	0.622																																						ENST00000356518.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						c.(157-159)acC>acT		ADAM metallopeptidase domain 33							32	30	31					20																	3660157		2201	4300	6501	SO:0001819	synonymous_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3660157G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.159C>T	20.37:g.3660157G>A						ADAM33_ENST00000350009.2_Silent_p.T53T|ADAM33_ENST00000379861.4_Silent_p.T53T	p.T53T	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN			2	400	-			53					A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Silent	SNP	ENST00000356518.2	37	c.159C>T	CCDS13058.1																																																																																				0.622	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		20	72	0	0	0	1	0	20	72					A	3660157	G	A	3660157	2	1	79	1	0	0	0	0	0	0	0	1	250	1103	39	1		1	ADAM33	20	3660157	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	95569	3660157	59365363	19965	30282											
SIGLEC1	6614	broad.mit.edu	37	chr20	3669866	3669866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgctctgcttacaaacaCgcctccttctgcaaggcccg	7	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3669866C>T	ENST00000344754.4	-	20	5005	c.5006G>A	c.(5005-5007)cGt>cAt	p.R1669H	SIGLEC1_ENST00000202578.4_Intron	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1669					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.1670_1673del(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						CTTACAAACACGCCTCCTTCT	0.582																																						ENST00000344754.4																			1	Deletion - In frame(1)	p.1670_1673del(1)	breast(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						c.(5005-5007)cGt>cAt		sialic acid binding Ig-like lectin 1, sialoadhesin							198	173	181					20																	3669866		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3669866C>T	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.5006G>A	20.37:g.3669866C>T	ENSP00000341141:p.Arg1669His					SIGLEC1_ENST00000202578.4_Intron	p.R1669H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			20	5005	-			1669					Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.5006G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202355	0.22121	.	.	ENSG00000088827	ENST00000344754	T	0.24151	1.87	5.38	-3.64	0.04515	.	2.282560	0.02156	N	0.058429	T	0.10035	0.0246	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10730	-1.0617	10	0.33141	T	0.24	.	0.5307	0.00628	0.2761:0.3107:0.195:0.2182	.	1669	Q9BZZ2	SN_HUMAN	H	1669	ENSP00000341141:R1669H	ENSP00000341141:R1669H	R	-	2	0	SIGLEC1	3617866	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.189000	0.03061	-0.904000	0.03876	0.655000	0.94253	CGT		0.582	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		122	539	0	0	0	1	0	122	539					T	3669866	C	T	3669866	3	4	79	1	0	0	0	0	1	0	0	0	14355	536	19	1	131	1	SIGLEC1	20	3669866	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9709	3669866	59355654	19966	30283											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673242	3673242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggcaagagtaggcgcctGcatgagcccgcgtggccacc	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673242G>A	ENST00000344754.4	-	15	3955	c.3956C>T	c.(3955-3957)gCa>gTa	p.A1319V	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1319	Ig-like C2-type 13.				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						GTAGGCGCCTGCATGAGCCCG	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3955-3957)gCa>gTa		sialic acid binding Ig-like lectin 1, sialoadhesin							29	32	31					20																	3673242		2202	4300	6502	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673242G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3956C>T	20.37:g.3673242G>A	ENSP00000341141:p.Ala1319Val					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A1319V	p.A1319V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			15	3955	-			1319			Ig-like C2-type 13.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3956C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594026	0.66219	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15017	2.46;2.46	5.71	3.71	0.42584	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34652	N	0.003789	T	0.38321	0.1036	M	0.85542	2.76	0.09310	N	1	D;D	0.57257	0.971;0.979	P;P	0.60415	0.874;0.742	T	0.19712	-1.0297	10	0.56958	D	0.05	.	9.3211	0.37964	0.0779:0.0:0.7789:0.1432	.	1319;1319	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	V	1319	ENSP00000341141:A1319V;ENSP00000202578:A1319V	ENSP00000202578:A1319V	A	-	2	0	SIGLEC1	3621242	0.039000	0.19947	0.003000	0.11579	0.904000	0.53231	1.963000	0.40452	1.394000	0.46624	0.655000	0.94253	GCA		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		29	129	0	0	0	1	0	29	129					A	3673242	G	A	3673242	3	1	79	1	0	0	0	0	1	0	0	0	14355	1319	46	2	1201	2	SIGLEC1	20	3673242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3376	3673242	59352278	19967	30284											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673398	3673398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcaggcacggcagcctccGgagccaggatcacccgcaca	11	17	2	0	rs150431597		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673398G>A	ENST00000344754.4	-	15	3799	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1267	Ig-like C2-type 13.				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						GGCAGCCTCCGGAGCCAGGAT	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3799-3801)cCg>cTg		sialic acid binding Ig-like lectin 1, sialoadhesin		G	LEU/PRO	0,4406		0,0,2203	35	35	35		3800	4.8	0.4	20	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SIGLEC1	NM_023068.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1267/1710	3673398	1,13005	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673398G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3800C>T	20.37:g.3673398G>A	ENSP00000341141:p.Pro1267Leu					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1267L	p.P1267L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			15	3799	-			1267			Ig-like C2-type 13.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3800C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199195	0.38806	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.14144	2.53;2.53	5.74	4.78	0.61160	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36628	N	0.002482	T	0.44222	0.1283	M	0.92169	3.28	0.27153	N	0.961358	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.50767	-0.8789	10	0.29301	T	0.29	.	12.6884	0.56960	0.0:0.1658:0.8342:0.0	.	1267;1267	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	L	1267	ENSP00000341141:P1267L;ENSP00000202578:P1267L	ENSP00000202578:P1267L	P	-	2	0	SIGLEC1	3621398	0.998000	0.40836	0.438000	0.26821	0.042000	0.13812	5.600000	0.67599	1.405000	0.46838	0.561000	0.74099	CCG		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		75	238	0	0	0	1	0	75	238					A	3673398	G	A	3673398	3	1	79	1	0	0	0	0	1	0	0	0	14355	1116	39	1	1357	1	SIGLEC1	20	3673398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	156	3673398	59352122	19968	30285											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673553	3673553	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttggcctggcccagagggCtgcgggcagagcagctgtag	18	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673553C>A	ENST00000344754.4	-	14	3733	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1245	Ig-like C2-type 12.				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						GCCCAGAGGGCTGCGGGCAGA	0.677																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3733-3735)aGc>aTc		sialic acid binding Ig-like lectin 1, sialoadhesin							29	31	30					20																	3673553		2201	4298	6499	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673553C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3734G>T	20.37:g.3673553C>A	ENSP00000341141:p.Ser1245Ile					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1245I	p.S1245I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3733	-			1245			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3734G>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.160567|3.160567	0.57368|0.57368	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.75477	.|-0.94;-0.94	4.98|4.98	1.38|1.38	0.22167|0.22167	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.335011	.|0.21929	.|N	.|0.067045	T|T	0.80292|0.80292	0.4596|0.4596	M|M	0.67397|0.67397	2.05|2.05	0.31063|0.31063	N|N	0.713953|0.713953	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.993;0.992	T|T	0.75783|0.75783	-0.3196|-0.3196	5|10	.|0.52906	.|T	.|0.07	.|.	5.6007|5.6007	0.17351|0.17351	0.0:0.5714:0.0:0.4286|0.0:0.5714:0.0:0.4286	.|.	.|1245;1245	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	58|1245	.|ENSP00000341141:S1245I;ENSP00000202578:S1245I	.|ENSP00000202578:S1245I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621553|3621553	0.001000|0.001000	0.12720|0.12720	0.969000|0.969000	0.41365|0.41365	0.888000|0.888000	0.51559|0.51559	-0.278000|-0.278000	0.08490|0.08490	0.514000|0.514000	0.28300|0.28300	-0.140000|-0.140000	0.14226|0.14226	CAG|AGC		0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		20	317	1	0	1.33834e-09	1	1.40959e-09	20	317					A	3673553	C	A	3673553	3	1	79	1	0	0	0	0	1	0	0	0	14355	797	28	3	1427	3	SIGLEC1	20	3673553	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	3673553	59351967	19969	30286											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673586	3673586	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctgtagaaaccctcatccCtgggctgtggccctcgcagc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673586C>A	ENST00000344754.4	-	14	3700	c.3701G>T	c.(3700-3702)aGg>aTg	p.R1234M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1234M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1234	Ig-like C2-type 12.				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						ACCCTCATCCCTGGGCTGTGG	0.697																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3700-3702)aGg>aTg		sialic acid binding Ig-like lectin 1, sialoadhesin							28	31	30					20																	3673586		2202	4298	6500	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673586C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3701G>T	20.37:g.3673586C>A	ENSP00000341141:p.Arg1234Met					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1234M	p.R1234M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3700	-			1234			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3701G>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.821744|1.821744	0.32237|0.32237	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.12569	.|2.67;2.67	4.98|4.98	2.9|2.9	0.33743|0.33743	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.462417	.|0.18472	.|N	.|0.140194	T|T	0.10723|0.10723	0.0262|0.0262	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P;P	.|0.45396	.|0.581;0.857	.|B;B	.|0.43123	.|0.262;0.409	T|T	0.13629|0.13629	-1.0502|-1.0502	5|10	.|0.62326	.|D	.|0.03	.|.	5.1697|5.1697	0.15103|0.15103	0.219:0.6755:0.0:0.1054|0.219:0.6755:0.0:0.1054	.|.	.|1234;1234	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|M	47|1234	.|ENSP00000341141:R1234M;ENSP00000202578:R1234M	.|ENSP00000202578:R1234M	Q|R	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621586|3621586	0.000000|0.000000	0.05858|0.05858	0.485000|0.485000	0.27403|0.27403	0.827000|0.827000	0.46813|0.46813	-0.447000|-0.447000	0.06828|0.06828	1.322000|1.322000	0.45245|0.45245	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		69	248	1	0	1.52378e-38	1	1.83746e-38	69	248					A	3673586	C	A	3673586	3	1	79	1	0	0	0	0	1	0	0	0	14355	681	24	3	1460	3	SIGLEC1	20	3673586	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	3673586	59351934	19970	30287											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673670	3673670	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaggcgaccggcgtggCtgagggccagctgggcgggc	20	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673670C>A	ENST00000344754.4	-	14	3616	c.3617G>T	c.(3616-3618)aGc>aTc	p.S1206I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1206	Ig-like C2-type 12.				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						ACCGGCGTGGCTGAGGGCCAG	0.697																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3616-3618)aGc>aTc		sialic acid binding Ig-like lectin 1, sialoadhesin							14	18	17					20																	3673670		2175	4271	6446	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673670C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3617G>T	20.37:g.3673670C>A	ENSP00000341141:p.Ser1206Ile					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S1206I	p.S1206I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3616	-			1206			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3617G>T	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.51|12.51	1.958818|1.958818	0.34565|0.34565	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.13089	.|2.62;2.62	4.74|4.74	3.8|3.8	0.43715|0.43715	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.47852	.|D	.|0.000220	T|T	0.26159|0.26159	0.0638|0.0638	L|L	0.60904|0.60904	1.88|1.88	0.33759|0.33759	D|D	0.621586|0.621586	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.66716	.|0.946;0.938	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.22706	.|T	.|0.39	.|.	8.684|8.684	0.34225|0.34225	0.0:0.8968:0.0:0.1032|0.0:0.8968:0.0:0.1032	.|.	.|1206;1206	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	H|I	19|1206	.|ENSP00000341141:S1206I;ENSP00000202578:S1206I	.|ENSP00000202578:S1206I	Q|S	-|-	3|2	2|0	SIGLEC1|SIGLEC1	3621670|3621670	0.012000|0.012000	0.17670|0.17670	0.995000|0.995000	0.50966|0.50966	0.619000|0.619000	0.37552|0.37552	0.058000|0.058000	0.14301|0.14301	1.239000|1.239000	0.43787|0.43787	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.697	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		11	242	1	0	0.000978159	1	0.000988919	11	242					A	3673670	C	A	3673670	3	1	79	1	0	0	0	0	1	0	0	0	14355	797	28	3	1544	3	SIGLEC1	20	3673670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84	3673670	59351850	19971	30288											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678683	3678683	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcctggcgggggggtcGctgtccacacggcacaaaag	16	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3678683G>A	ENST00000344754.4	-	8	1883	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	SIGLEC1_ENST00000202578.4_Silent_p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	628	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						CGGGGGGGTCGCTGTCCACAC	0.677																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1882-1884)agC>agT		sialic acid binding Ig-like lectin 1, sialoadhesin							17	19	18					20																	3678683		2196	4292	6488	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3678683G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1884C>T	20.37:g.3678683G>A						SIGLEC1_ENST00000202578.4_Silent_p.S628S	p.S628S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			8	1883	-			628			Ig-like C2-type 6.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.1884C>T	CCDS13060.1																																																																																				0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		32	141	0	0	0	1	0	32	141					A	3678683	G	A	3678683	2	1	79	1	0	0	0	0	0	0	0	1	14355	1078	38	1		1	SIGLEC1	20	3678683	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5013	3678683	59346837	19972	30289											
SIGLEC1	6614	broad.mit.edu	37	chr20	3679957	3679957	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccgcggggagcaggaGgctgctgccgggaccctcgt	20	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3679957G>T	ENST00000344754.4	-	7	1677	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	560	Ig-like C2-type 5.				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						GGGAGCAGGAGGCTGCTGCCG	0.672																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1678-1680)Ctc>Atc		sialic acid binding Ig-like lectin 1, sialoadhesin							32	25	27					20																	3679957		2203	4299	6502	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3679957G>T	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.1678C>A	20.37:g.3679957G>T	ENSP00000341141:p.Leu560Ile					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L560I	p.L560I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			7	1677	-			560			Ig-like C2-type 5.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1678C>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613571	0.66672	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.15139	2.45;2.45	5.46	1.33	0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.209012	0.24291	N	0.039819	T	0.42877	0.1222	M	0.89785	3.06	0.27241	N	0.959146	D;D	0.62365	0.991;0.988	D;D	0.72625	0.978;0.962	T	0.29610	-1.0006	10	0.72032	D	0.01	.	7.8901	0.29674	0.3358:0.0:0.6642:0.0	.	560;560	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	I	560	ENSP00000341141:L560I;ENSP00000202578:L560I	ENSP00000202578:L560I	L	-	1	0	SIGLEC1	3627957	0.749000	0.28305	0.994000	0.49952	0.835000	0.47333	0.571000	0.23669	0.029000	0.15352	-0.136000	0.14681	CTC		0.672	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		17	56	1	0	9.16793e-09	1	9.60025e-09	17	56					T	3679957	G	T	3679957	3	4	79	1	0	0	0	0	1	0	0	0	14355	1000	35	3	3511	3	SIGLEC1	20	3679957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1274	3679957	59345563	19973	30290											
HSPA12B	116835	broad.mit.edu	37	chr20	3730865	3730865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacgtggagaccgctctgcGcaggagcaggtgggtcctga	16	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3730865G>A	ENST00000254963.2	+	11	1437	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	431							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCGCTCTGCGCAGGAGCAGG	0.682																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1291-1293)cGc>cAc		heat shock 70kD protein 12B							14	16	15					20																	3730865		2195	4296	6491	SO:0001583	missense	116835						ATP binding	g.chr20:3730865G>A	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1292G>A	20.37:g.3730865G>A	ENSP00000254963:p.Arg431His					HSPA12B_ENST00000542646.1_Missense_Mutation_p.R265H	p.R431H	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			11	1437	+			431					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.1292G>A	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012551	0.93346	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.47528	1.42;0.84;0.84	5.66	4.71	0.59529	.	0.168975	0.47093	N	0.000248	T	0.65386	0.2686	M	0.72479	2.2	0.53688	D	0.999979	D;D	0.89917	0.996;1.0	D;D	0.72982	0.921;0.979	T	0.67106	-0.5754	10	0.51188	T	0.08	-3.7254	12.2752	0.54730	0.0826:0.0:0.9174:0.0	.	430;431	B7ZLP2;Q96MM6	.;HS12B_HUMAN	H	431;265;345	ENSP00000254963:R431H;ENSP00000441506:R265H;ENSP00000382608:R345H	ENSP00000254963:R431H	R	+	2	0	HSPA12B	3678865	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.137000	0.50562	1.374000	0.46228	0.563000	0.77884	CGC		0.682	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		22	78	0	0	0	1	0	22	78					A	3730865	G	A	3730865	3	1	79	1	0	0	0	0	1	0	0	0	7435	1087	38	1	1330	1	HSPA12B	20	3730865	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50908	3730865	59294655	19974	30291											
C20orf27	54976	broad.mit.edu	37	chr20	3735096	3735096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtgccagtgccaccttcGcaggctagcagtatctcctc	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3735096G>A	ENST00000379772.3	-	5	1182	c.372C>T	c.(370-372)tgC>tgT	p.C124C	C20orf27_ENST00000217195.8_Silent_p.C149C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	124										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGCCACCTTCGCAGGCTAGCA	0.607																																						ENST00000379772.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						c.(370-372)tgC>tgT		chromosome 20 open reading frame 27							128	105	113					20																	3735096		2203	4300	6503	SO:0001819	synonymous_variant	54976							g.chr20:3735096G>A	AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.372C>T	20.37:g.3735096G>A						C20orf27_ENST00000217195.8_Silent_p.C149C	p.C124C	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN			5	1182	-			124					A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Silent	SNP	ENST00000379772.3	37	c.372C>T	CCDS58763.1																																																																																				0.607	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077750.2	NM_001039140		98	500	0	0	0	1	0	98	500					A	3735096	G	A	3735096	2	1	79	1	0	0	0	0	0	0	0	1	2114	1079	38	1		1	C20orf27	20	3735096	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4231	3735096	59290424	19975	30292											
CENPB	1059	broad.mit.edu	37	chr20	3765499	3765499	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagtaagccatggcctccccAaagctgggtacaggcacctc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3765499A>G	ENST00000379751.4	-	1	1838	c.1632T>C	c.(1630-1632)ttT>ttC	p.F544F	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	544	Homodimerization.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TGGCCTCCCCAAAGCTGGGTA	0.527																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(1630-1632)ttT>ttC		centromere protein B, 80kDa							200	150	167					20																	3765499		2203	4300	6503	SO:0001819	synonymous_variant	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3765499A>G	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1632T>C	20.37:g.3765499A>G							p.F544F	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	1838	-			544					Q96EI4	Silent	SNP	ENST00000379751.4	37	c.1632T>C	CCDS13064.1																																																																																				0.527	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		7	185	0	0	0	1	0	7	185					G	3765499	A	G	3765499	2	3	79	1	0	0	0	0	0	0	0	1	3236	127	5	4		4	CENPB	20	3765499	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30403	3765499	59260021	19976	30293											
CENPB	1059	broad.mit.edu	37	chr20	3766779	3766779	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccagccagccgttggaggCggtgaagtcgtccatgccca	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3766779C>T	ENST00000379751.4	-	1	558	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	118	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGTTGGAGGCGGTGAAGTCG	0.731																																						ENST00000379751.4																			0				kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						c.(352-354)Gcc>Acc		centromere protein B, 80kDa							34	40	38					20																	3766779		2202	4296	6498	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766779C>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.352G>A	20.37:g.3766779C>T	ENSP00000369075:p.Ala118Thr						p.A118T	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN			1	558	-			118			HTH CENPB-type.		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.352G>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	19.84	3.902606	0.72754	.	.	ENSG00000125817	ENST00000379751	T	0.27104	1.69	3.34	2.36	0.29203	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.249803	0.20833	U	0.084857	T	0.50701	0.1631	M	0.85945	2.785	0.33894	D	0.637715	D	0.89917	1.0	D	0.78314	0.991	T	0.63242	-0.6681	10	0.49607	T	0.09	-8.036	10.2481	0.43354	0.0:0.7966:0.2034:0.0	.	118	P07199	CENPB_HUMAN	T	118	ENSP00000369075:A118T	ENSP00000369075:A118T	A	-	1	0	CENPB	3714779	0.992000	0.36948	0.988000	0.46212	0.771000	0.43674	1.268000	0.33062	0.367000	0.24454	0.197000	0.17608	GCC		0.731	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2	NM_001810		87	360	0	0	0	1	0	87	360					T	3766779	C	T	3766779	3	4	79	1	0	0	0	0	1	0	0	0	3236	768	27	1	1451	1	CENPB	20	3766779	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1280	3766779	59258741	19977	30294											
CDC25B	994	broad.mit.edu	37	chr20	3785572	3785572	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgggctggggagcggagCcggcgggagctctgtagccg	21	10	1	0	rs514521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3785572C>T	ENST00000245960.5	+	16	2404	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	CDC25B_ENST00000439880.2_Silent_p.S555S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000340833.4_Silent_p.S528S|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	569					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						GGGAGCGGAGCCGGCGGGAGC	0.647																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1705-1707)agC>agT		cell division cycle 25B							43	46	45					20																	3785572		2203	4300	6503	SO:0001819	synonymous_variant	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3785572C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1726	protein-coding gene	gene with protein product		116949	"cell division cycle 25B", "cell division cycle 25 homolog B (S. cerevisiae)", "cell division cycle 25 homolog B (S. pombe)"			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1707C>T	20.37:g.3785572C>T						CDC25B_ENST00000340833.4_Silent_p.S528S|CDC25B_ENST00000379598.5_Silent_p.S478S|CDC25B_ENST00000344256.6_Silent_p.S505S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Silent_p.S555S	p.S569S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			16	2404	+			569					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	c.1707C>T	CCDS13067.1																																																																																				0.647	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		65	392	0	0	0	1	0	65	392					T	3785572	C	T	3785572	2	4	79	1	0	0	0	0	0	0	0	1	3072	738	26	2		2	CDC25B	20	3785572	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18793	3785572	59239948	19978	30295											
C20orf29	55317	broad.mit.edu	37	chr20	3804798	3804798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccttgaccacctccggctgCtggcgcccagcaccagcctt	9	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3804798C>A	ENST00000246041.2	+	3	676	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.L153M			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	153					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											CCTCCGGCTGCTGGCGCCCAG	0.632																																						ENST00000246041.2																			0											c.(457-459)Ctg>Atg		adaptor-related protein complex 5, sigma 1 subunit							77	60	66					20																	3804798		2203	4300	6503	SO:0001583	missense	55317				double-strand break repair via homologous recombination		protein binding	g.chr20:3804798C>A	AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"chromosome 20 open reading frame 29"	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.457C>A	20.37:g.3804798C>A	ENSP00000246041:p.Leu153Met					AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Missense_Mutation_p.L153M	p.L153M			Q9NUS5	CT029_HUMAN			3	676	+			153					B3KSD0|D3DVY7	Missense_Mutation	SNP	ENST00000246041.2	37	c.457C>A	CCDS13070.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231087	0.58777	.	.	ENSG00000125843	ENST00000379567;ENST00000246041	.	.	.	5.72	3.79	0.43588	.	0.078451	0.52532	D	0.000067	T	0.64549	0.2608	M	0.68952	2.095	0.43657	D	0.996079	P	0.49559	0.925	P	0.54759	0.76	T	0.66767	-0.5840	9	0.66056	D	0.02	-10.604	8.023	0.30421	0.0:0.8197:0.0:0.1803	.	153	Q9NUS5	CT029_HUMAN	M	153	.	ENSP00000246041:L153M	L	+	1	2	C20orf29	3752798	1.000000	0.71417	0.990000	0.47175	0.547000	0.35210	3.130000	0.50508	1.419000	0.47118	0.561000	0.74099	CTG		0.632	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077768.2	NM_018347		41	202	1	0	2.87052e-16	1	3.15093e-16	41	202					A	3804798	C	A	3804798	3	1	79	1	0	0	0	0	1	0	0	0	2115	796	28	3	463	3	C20orf29	20	3804798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19226	3804798	59220722	19979	30296											
MAVS	57506	broad.mit.edu	37	chr20	3841982	3841982	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatctttgtcctctagggaCctcggaccgtcccccagacc	8	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3841982C>T	ENST00000428216.2	+	4	424	c.296C>T	c.(295-297)aCc>aTc	p.T99I	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	99					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTAGGGACCTCGGACCGT	0.607																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(295-297)aCc>aTc		mitochondrial antiviral signaling protein							73	67	69					20																	3841982		2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3841982C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.296C>T	20.37:g.3841982C>T	ENSP00000401980:p.Thr99Ile					MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_5'UTR	p.T99I	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			4	424	+			99					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.296C>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996648	0.19043	.	.	ENSG00000088888	ENST00000428216	T	0.12984	2.63	3.55	-7.11	0.01542	.	2.099370	0.02440	N	0.084452	T	0.09905	0.0243	L	0.44542	1.39	0.09310	N	0.999999	B	0.34241	0.444	B	0.32090	0.14	T	0.06826	-1.0805	10	0.48119	T	0.1	6.6292	2.2226	0.03976	0.515:0.1266:0.1899:0.1685	.	99	Q7Z434	MAVS_HUMAN	I	99	ENSP00000401980:T99I	ENSP00000401980:T99I	T	+	2	0	MAVS	3789982	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.457000	0.01001	-2.885000	0.00317	0.591000	0.81541	ACC		0.607	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		75	405	0	0	0	1	0	75	405					T	3841982	C	T	3841982	3	4	79	1	0	0	0	0	1	0	0	0	9379	507	18	2	306	2	MAVS	20	3841982	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	37184	3841982	59183538	19980	30297											
MAVS	57506	broad.mit.edu	37	chr20	3842924	3842924	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagcaagccctgcagacGctcagccccagagccatccc	9	18	2	3	rs150835407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3842924G>A	ENST00000428216.2	+	5	617	c.489G>A	c.(487-489)acG>acA	p.T163T	MAVS_ENST00000416600.2_Silent_p.T22T|MAVS_ENST00000358134.6_Missense_Mutation_p.A106T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	163					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCAGACGCTCAGCCCCA	0.587																																						ENST00000358134.6																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(316-318)Gct>Act		mitochondrial antiviral signaling protein							49	51	50					20																	3842924		2203	4300	6503	SO:0001819	synonymous_variant	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3842924G>A	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.489G>A	20.37:g.3842924G>A						MAVS_ENST00000428216.2_Silent_p.T163T|MAVS_ENST00000416600.2_Silent_p.T22T	p.A106T			Q7Z434	MAVS_HUMAN			3	316	+			107			Pro-rich.		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.316G>A	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883678	0.17467	.	.	ENSG00000088888	ENST00000358134	T	0.11495	2.77	3.56	-3.22	0.05125	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	8	0.17369	T	0.5	-0.588	4.4783	0.11755	0.3447:0.3412:0.3141:0.0	.	106	B2BD34	.	T	106	ENSP00000350852:A106T	ENSP00000350852:A106T	A	+	1	0	MAVS	3790924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.082000	0.14847	-0.708000	0.05015	-1.004000	0.02495	GCT		0.587	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		53	217	0	0	0	1	0	53	217					A	3842924	G	A	3842924	2	1	79	1	0	0	0	0	0	0	0	1	9379	1074	38	1		1	MAVS	20	3842924	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	942	3842924	59182596	19981	30298											
PANK2	80025	broad.mit.edu	37	chr20	3869814	3869814	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccatcactctcttctgggCtacaccgccttctcttcctc	5	19	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3869814C>T	ENST00000316562.4	+	1	73	c.67C>T	c.(67-69)Cta>Tta	p.L23L	RP11-119B16.2_ENST00000451507.1_RNA|PANK2_ENST00000610179.1_5'Flank|PANK2_ENST00000497424.1_Intron	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	23					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						CTCTTCTGGGCTACACCGCCT	0.672																																						ENST00000316562.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(67-69)Cta>Tta		pantothenate kinase 2							26	20	22					20																	3869814		2197	4298	6495	SO:0001819	synonymous_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3869814C>T	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.67C>T	20.37:g.3869814C>T						PANK2_ENST00000497424.1_Intron	p.L23L	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN			1	73	+			23					B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	c.67C>T	CCDS13071.2																																																																																				0.672	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		10	52	0	0	0	1	0	10	52					T	3869814	C	T	3869814	2	4	79	1	0	0	0	0	0	0	0	1	11459	796	28	2		2	PANK2	20	3869814	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26890	3869814	59155706	19982	30299											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-													catagtcttggaggaggaacTttttttggtctctgctgtct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					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						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141	152	148					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	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.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	1255						7	1255	---	---	---	---	-	3893120	T	-	3893120	7	5	79	1	0	1	0	1	0	0	0	0	11459	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	23306	3893120	59132400	19983	30300											
RNF24	11237	broad.mit.edu	37	chr20	3914846	3914846	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctccagccacttaataaggCacctgcagaaggagacacca	8	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	ENST00000336095.6	-	6	562	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_ENST00000545616.2_Missense_Mutation_p.C125Y|RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	104						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTAATAAGGCACCTGCAGAA	0.542																																						ENST00000336095.5																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(310-312)tGc>tAc		ring finger protein 24							61	56	58					20																	3914846		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	zinc ion binding	g.chr20:3914846C>T	AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"RING-type (C3HC4) zinc fingers"	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.311G>A	20.37:g.3914846C>T	ENSP00000336753:p.Cys104Tyr					RNF24_ENST00000358395.6_Missense_Mutation_p.C104Y|RNF24_ENST00000432261.2_Missense_Mutation_p.C125Y|RNF24_ENST00000545616.1_Missense_Mutation_p.C125Y	p.C104Y	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN			6	562	-			104					D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	c.311G>A	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500288	0.85176	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.79108	0.992;0.99	D	0.96787	0.9579	10	0.87932	D	0	-10.1893	17.5288	0.87808	0.0:1.0:0.0:0.0	.	125;104	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	Y	104;104;125;125	ENSP00000336753:C104Y;ENSP00000351166:C104Y;ENSP00000444711:C125Y;ENSP00000388550:C125Y	ENSP00000336753:C104Y	C	-	2	0	RNF24	3862846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.057000	0.76669	2.735000	0.93741	0.591000	0.81541	TGC		0.542	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2			58	264	0	0	0	1	0	58	264					T	3914846	C	T	3914846	3	4	79	1	0	0	0	0	1	0	0	0	13534	710	25	2	139	2	RNF24	20	3914846	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21726	3914846	59110674	19984	30301											
SMOX	54498	broad.mit.edu	37	chr20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccagcgtgaggctgcccGcctcattgagatgtaccgag	14	13	1	2	rs566360232		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	542					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.0					ENST00000305958.4																			0				breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26						c.(1624-1626)cGc>cAc		spermine oxidase	Spermine(DB00127)						61	53	56					20																	4168011		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4168011G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"chromosome 20 open reading frame 16"	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1625G>A	20.37:g.4168011G>A	ENSP00000307252:p.Arg542His					SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H	p.R542H	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN			7	1850	+			542					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1625G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165618	0.38217	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460;ENST00000457205	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.22	4.27	0.50696	Amine oxidase (1);	0.050195	0.85682	D	0.000000	D	0.92202	0.7527	M	0.84948	2.725	0.54753	D	0.999986	B;P;B;B;B;P	0.37083	0.159;0.581;0.213;0.385;0.1;0.581	B;B;B;B;B;B	0.31016	0.039;0.123;0.023;0.071;0.035;0.123	D	0.91219	0.5005	10	0.54805	T	0.06	-12.7215	11.6125	0.51069	0.0867:0.0:0.9133:0.0	.	466;572;177;542;489;519	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	H	489;542;519;177;542;429	ENSP00000344595:R489H;ENSP00000307252:R542H;ENSP00000278795:R519H;ENSP00000341775:R177H;ENSP00000368773:R542H;ENSP00000407269:R429H	ENSP00000278795:R519H	R	+	2	0	SMOX	4116011	1.000000	0.71417	0.976000	0.42696	0.226000	0.24999	4.659000	0.61504	1.197000	0.43143	-0.145000	0.13849	CGC		0.632	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		74	296	0	0	0	1	0	74	296					A	4168011	G	A	4168011	3	1	79	1	0	0	0	0	1	0	0	0	14853	1087	38	1	1741	1	SMOX	20	4168011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	253165	4168011	58857509	19985	30302											
PRNP	5621	broad.mit.edu	37	chr20	4680520	4680520	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgtgtatcacccagtaCgagagggaatctcaggccta	11	10	2	2	rs375057882		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4680520C>T	ENST00000379440.4	+	2	941	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_ENST00000430350.2_Silent_p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCACCCAGTACGAGAGGGAAT	0.532																																						ENST00000379440.4																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						c.(652-654)taC>taT		prion protein	Tetracycline(DB00759)	C	,,,,	0,4406		0,0,2203	136	117	123		654,654,654,654,654	3.7	0.9	20		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRNP	NM_000311.3,NM_001080121.1,NM_001080122.1,NM_001080123.1,NM_183079.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	218/254,218/254,218/254,218/254,218/254	4680520	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680520C>T	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.654C>T	20.37:g.4680520C>T						PRNP_ENST00000430350.2_Silent_p.Y218Y	p.Y218Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN			2	941	+			218			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Silent	SNP	ENST00000379440.4	37	c.654C>T	CCDS13080.1																																																																																				0.532	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		42	183	0	0	0	1	0	42	183					T	4680520	C	T	4680520	2	4	79	1	0	0	0	0	0	0	0	1	12591	547	19	1		1	PRNP	20	4680520	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	512509	4680520	58345000	19986	30303											
PRND	23627	broad.mit.edu	37	chr20	4705663	4705663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggagaggggcgcaggacttCgggtcaccatgcaccagcca	15	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4705663C>T	ENST00000305817.2	+	2	537	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	156					protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597																																						ENST00000305817.2																			0				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						c.(466-468)Cgg>Tgg		prion protein 2 (dublet)							35	34	34					20																	4705663		2203	4300	6503	SO:0001583	missense	23627				protein homooligomerization	anchored to membrane|plasma membrane		g.chr20:4705663C>T	AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.466C>T	20.37:g.4705663C>T	ENSP00000306900:p.Arg156Trp						p.R156W	NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN			2	537	+			156					A7U7M5|Q9H311|Q9H312|Q9NTM4	Missense_Mutation	SNP	ENST00000305817.2	37	c.466C>T	CCDS13081.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643659	0.29246	.	.	ENSG00000171864	ENST00000305817	D	0.89552	-2.53	4.7	1.64	0.23874	Prion/Doppel protein, beta-ribbon domain (1);	0.620637	0.13289	N	0.399160	D	0.82435	0.5036	L	0.49126	1.545	0.09310	N	1	B	0.26975	0.165	B	0.19946	0.027	T	0.71679	-0.4520	10	0.56958	D	0.05	-19.0496	4.3118	0.10974	0.1797:0.6246:0.0:0.1957	.	156	Q9UKY0	PRND_HUMAN	W	156	ENSP00000306900:R156W	ENSP00000306900:R156W	R	+	1	2	PRND	4653663	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.451000	0.21779	0.141000	0.18875	0.557000	0.71058	CGG		0.597	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077827.2	NM_012409		18	253	0	0	0	1	0	18	253					T	4705663	C	T	4705663	3	4	79	1	0	0	0	0	1	0	0	0	12590	875	31	1	468	1	PRND	20	4705663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25143	4705663	58319857	19987	30304											
SLC23A2	9962	broad.mit.edu	37	chr20	4855240	4855240	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagggaacattttgaacagCtgtaacttgtacgcagtcca	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4855240C>T	ENST00000379333.1	-	10	1319	c.927G>A	c.(925-927)caG>caA	p.Q309Q	SLC23A2_ENST00000338244.1_Silent_p.Q309Q|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.Q195Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	309					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						TTTTGAACAGCTGTAACTTGT	0.383																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(925-927)caG>caA		solute carrier family 23 (ascorbic acid transporter), member 2							194	186	188					20																	4855240		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4855240C>T	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.927G>A	20.37:g.4855240C>T						SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.Q195Q|SLC23A2_ENST00000338244.1_Silent_p.Q309Q	p.Q309Q	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			10	1319	-			309					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.927G>A	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	0.083	-1.180732	0.01633	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.44	-1.36	0.09085	.	.	.	.	.	T	0.50086	0.1595	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	-9.0181	5.6703	0.17719	0.0:0.475:0.2403:0.2847	.	.	.	.	T	66	.	.	A	-	1	0	SLC23A2	4803240	1.000000	0.71417	0.976000	0.42696	0.005000	0.04900	2.191000	0.42640	-0.233000	0.09797	-0.176000	0.13171	GCT		0.383	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			118	569	0	0	0	1	0	118	569					T	4855240	C	T	4855240	2	4	79	1	0	0	0	0	0	0	0	1	14513	796	28	2		2	SLC23A2	20	4855240	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149577	4855240	58170280	19988	30305											
GPCPD1	56261	broad.mit.edu	37	chr20	5539456	5539456	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcggatatttgttctgcttTtgccgaaccctgaaaagaaa	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5539456T>C	ENST00000379019.4	-	18	1754	c.1542A>G	c.(1540-1542)caA>caG	p.Q514Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	514	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTCTGCTTTTGCCGAACCC	0.348																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1540-1542)caA>caG		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							53	57	56					20																	5539456		2203	4300	6503	SO:0001819	synonymous_variant	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5539456T>C		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1542A>G	20.37:g.5539456T>C						GPCPD1_ENST00000481038.1_5'UTR	p.Q514Q	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			18	1754	-			514			GDPD.		D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	c.1542A>G	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	T	7.941	0.742788	0.15642	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.22	-1.59	0.08453	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-9.3187	1.6724	0.02814	0.1453:0.2905:0.2971:0.2671	.	.	.	.	E	106	.	.	K	-	1	0	GPCPD1	5487456	0.038000	0.19896	0.997000	0.53966	0.998000	0.95712	-0.952000	0.03881	-0.142000	0.11354	0.533000	0.62120	AAA		0.348	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		29	117	0	0	0	1	0	29	117					C	5539456	T	C	5539456	2	2	79	1	0	0	0	0	0	0	0	1	6632	1838	64	4		4	GPCPD1	20	5539456	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	684216	5539456	57486064	19989	30306											
C20orf196	149840	broad.mit.edu	37	chr20	5844104	5844104	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcagaatgtaatgaaagacCtgtaactggtgccgggcagt	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5844104C>A	ENST00000303142.6	+	3	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	205										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AATGAAAGACCTGTAACTGGT	0.512																																						ENST00000303142.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(613-615)Ctg>Atg		chromosome 20 open reading frame 196							71	70	70					20																	5844104		2201	4298	6499	SO:0001583	missense	149840							g.chr20:5844104C>A	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.613C>A	20.37:g.5844104C>A	ENSP00000305875:p.Leu205Met						p.L205M	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN			3	700	+			205					A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	ENST00000303142.6	37	c.613C>A	CCDS13091.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606421	0.28623	.	.	ENSG00000171984	ENST00000303142;ENST00000378971	T	0.51325	0.71	5.54	1.21	0.21127	.	1.162880	0.06175	N	0.678450	T	0.29190	0.0726	N	0.19112	0.55	0.09310	N	1	P	0.38711	0.643	B	0.34301	0.179	T	0.31447	-0.9943	10	0.87932	D	0	-11.1558	3.344	0.07128	0.1662:0.4178:0.3232:0.0928	.	205	Q8IYI0	CT196_HUMAN	M	205;151	ENSP00000305875:L205M	ENSP00000305875:L205M	L	+	1	2	C20orf196	5792104	0.000000	0.05858	0.447000	0.26932	0.171000	0.22731	-0.269000	0.08596	0.828000	0.34709	0.655000	0.94253	CTG		0.512	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		76	336	1	0	1.7488e-33	1	2.07287e-33	76	336					A	5844104	C	A	5844104	3	1	79	1	0	0	0	0	1	0	0	0	2108	680	24	3	619	3	C20orf196	20	5844104	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	304648	5844104	57181416	19990	30307											
TRMT6	51605	broad.mit.edu	37	chr20	5927132	5927132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagttccataactatggCcaatgacgttatccaggtag	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5927132C>T	ENST00000203001.2	-	2	306	c.176G>A	c.(175-177)gGc>gAc	p.G59D	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	59					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.G59V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAACTATGGCCAATGACGTT	0.408																																						ENST00000203001.2																			1	Substitution - Missense(1)	p.G59V(1)	endometrium(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(175-177)gGc>gAc		tRNA methyltransferase 6 homolog (S. cerevisiae)							197	159	172					20																	5927132		2203	4300	6503	SO:0001583	missense	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5927132C>T	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.176G>A	20.37:g.5927132C>T	ENSP00000203001:p.Gly59Asp					TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	p.G59D	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			2	306	-			59					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	ENST00000203001.2	37	c.176G>A	CCDS13093.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742387	0.89573	.	.	ENSG00000089195	ENST00000203001	T	0.48201	0.82	5.68	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.69895	0.3162	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74432	-0.3667	10	0.59425	D	0.04	-8.7611	16.4517	0.83993	0.0:0.8686:0.1314:0.0	.	59	Q9UJA5	TRM6_HUMAN	D	59	ENSP00000203001:G59D	ENSP00000203001:G59D	G	-	2	0	TRMT6	5875132	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	1.357000	0.45904	0.655000	0.94253	GGC		0.408	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			29	376	0	0	0	1	0	29	376					T	5927132	C	T	5927132	3	4	79	1	0	0	0	0	1	0	0	0	16621	739	26	2	1357	2	TRMT6	20	5927132	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83028	5927132	57098388	19991	30308											
MCM8	84515	broad.mit.edu	37	chr20	5933149	5933149	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatcgattcataccatataaAggctggaagctttatttctc	7	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5933149A>C	ENST00000378896.3	+	3	605	c.228A>C	c.(226-228)aaA>aaC	p.K76N	MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|TRMT6_ENST00000453074.2_5'Flank|TRMT6_ENST00000473131.1_5'Flank|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N|TRMT6_ENST00000203001.2_5'Flank|MCM8_ENST00000378886.2_Missense_Mutation_p.K76N	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	76					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						TACCATATAAAGGCTGGAAGC	0.338																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(226-228)aaA>aaC		minichromosome maintenance complex component 8							93	105	101					20																	5933149		2203	4299	6502	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5933149A>C	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.228A>C	20.37:g.5933149A>C	ENSP00000368174:p.Lys76Asn					MCM8_ENST00000378886.2_Missense_Mutation_p.K76N|MCM8_ENST00000378883.1_Missense_Mutation_p.K76N|MCM8_ENST00000265187.4_Missense_Mutation_p.K76N	p.K76N	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			3	605	+			76					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.228A>C	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914769	0.72983	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	6.07	2.69	0.31865	.	0.098121	0.64402	D	0.000002	T	0.35653	0.0939	M	0.75447	2.3	0.58432	D	0.999995	P;P;B;B	0.41597	0.677;0.756;0.338;0.251	B;B;B;B	0.38106	0.265;0.209;0.224;0.136	T	0.17930	-1.0353	10	0.52906	T	0.07	-16.8494	8.8479	0.35181	0.7028:0.0:0.2972:0.0	.	76;76;76;76	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	N	76	ENSP00000368174:K76N;ENSP00000368161:K76N;ENSP00000368164:K76N;ENSP00000265187:K76N	ENSP00000265187:K76N	K	+	3	2	MCM8	5881149	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.842000	0.48230	0.554000	0.29061	-0.250000	0.11733	AAA		0.338	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		149	653	0	0	0	1	0	149	653					C	5933149	A	C	5933149	3	2	79	1	0	0	0	0	1	0	0	0	9434	69	3	4	234	4	MCM8	20	5933149	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6017	5933149	57092371	19992	30309											
MCM8	84515	broad.mit.edu	37	chr20	5966674	5966674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctatccacagaagctgctcGagttcttcaagatttttacc	7	11	2	2	rs149433613	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5966674G>A	ENST00000378896.3	+	16	2437	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q|MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q	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	687					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						GAAGCTGCTCGAGTTCTTCAA	0.468																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2059-2061)cGa>cAa		minichromosome maintenance complex component 8		A	GLN/ARG,GLN/ARG	1,4405	826.1+/-416.6	0,1,2202	115	107	110		2060,2012	5.7	1	20	dbSNP_134	110	2,8598	819.2+/-406.8	0,2,4298	yes	missense,missense	MCM8	NM_032485.4,NM_182802.1	43,43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign	687/841,671/825	5966674	3,13003	2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5966674G>A	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.2060G>A	20.37:g.5966674G>A	ENSP00000368174:p.Arg687Gln					MCM8_ENST00000378886.2_Missense_Mutation_p.R727Q|MCM8_ENST00000378883.1_Missense_Mutation_p.R640Q|MCM8_ENST00000265187.4_Missense_Mutation_p.R671Q	p.R687Q	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			16	2437	+			687					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2060G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	A	9.409	1.079986	0.20309	2.27E-4	2.33E-4	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.65	5.65	0.86999	.	0.054667	0.64402	N	0.000001	T	0.01835	0.0058	N	0.00566	-1.37	0.22401	N	0.999133	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	0.43228	-0.9404	10	0.06625	T	0.88	-7.1168	11.9878	0.53157	0.9323:0.0:0.0677:0.0	.	640;727;671;687	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	Q	687;640;727;671	ENSP00000368174:R687Q;ENSP00000368161:R640Q;ENSP00000368164:R727Q;ENSP00000265187:R671Q	ENSP00000265187:R671Q	R	+	2	0	MCM8	5914674	1.000000	0.71417	0.975000	0.42487	0.687000	0.40016	6.140000	0.71738	1.081000	0.41110	-0.254000	0.11334	CGA		0.468	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		80	377	0	0	0	1	0	80	377					A	5966674	G	A	5966674	3	1	79	1	0	0	0	0	1	0	0	0	9434	1058	37	1	2118	1	MCM8	20	5966674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33525	5966674	57058846	19993	30310											
MCM8	84515	broad.mit.edu	37	chr20	5974312	5974312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tatttcaatttcatcaacttCggcagattgccaaagaacta	5	9	3	2	rs147649536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5974312C>T	ENST00000378896.3	+	18	2778	c.2401C>T	c.(2401-2403)Cgg>Tgg	p.R801W	MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W|MCM8_ENST00000378886.2_Missense_Mutation_p.R841W	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	801					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						TCATCAACTTCGGCAGATTGC	0.318																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2401-2403)Cgg>Tgg		minichromosome maintenance complex component 8		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	42	49	47		2401,2353	4.7	1	20	dbSNP_134	47	0,8598		0,0,4299	no	missense,missense	MCM8	NM_032485.4,NM_182802.1	101,101	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	801/841,785/825	5974312	1,13003	2203	4299	6502	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5974312C>T	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.2401C>T	20.37:g.5974312C>T	ENSP00000368174:p.Arg801Trp					MCM8_ENST00000378886.2_Missense_Mutation_p.R841W|MCM8_ENST00000378883.1_Missense_Mutation_p.R754W|MCM8_ENST00000265187.4_Missense_Mutation_p.R785W	p.R801W	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			18	2778	+			801					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2401C>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513050	0.64522	2.27E-4	0.0	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03181	4.08;4.02;4.09;4.08	5.69	4.72	0.59763	.	0.060767	0.64402	D	0.000002	T	0.10981	0.0268	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.65815	0.992;0.995;0.987;0.986	P;P;P;P	0.51229	0.663;0.582;0.54;0.453	T	0.05550	-1.0878	10	0.39692	T	0.17	-7.6747	15.8853	0.79244	0.1364:0.8636:0.0:0.0	.	754;841;785;801	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	W	801;754;841;785	ENSP00000368174:R801W;ENSP00000368161:R754W;ENSP00000368164:R841W;ENSP00000265187:R785W	ENSP00000265187:R785W	R	+	1	2	MCM8	5922312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.514000	0.60482	1.349000	0.45751	0.561000	0.74099	CGG		0.318	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		7	292	0	0	0	1	0	7	292					T	5974312	C	T	5974312	3	4	79	1	0	0	0	0	1	0	0	0	9434	875	31	1	2467	1	MCM8	20	5974312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7638	5974312	57051208	19994	30311											
LRRN4	164312	broad.mit.edu	37	chr20	6022053	6022053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccctccgcagagtagCggatctggtacccatgcact	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022053C>T	ENST00000378858.4	-	5	2062	c.1838G>A	c.(1837-1839)cGc>cAc	p.R613H		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	613	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGCAGAGTAGCGGATCTGGTA	0.701																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1837-1839)cGc>cAc		leucine rich repeat neuronal 4							52	49	50					20																	6022053		2201	4297	6498	SO:0001583	missense	164312					integral to membrane		g.chr20:6022053C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1838G>A	20.37:g.6022053C>T	ENSP00000368135:p.Arg613His						p.R613H	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	2062	-			613			Fibronectin type-III.		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1838G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	5.462	0.270375	0.10349	.	.	ENSG00000125872	ENST00000378858	T	0.58210	0.35	5.13	-4.69	0.03299	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.366150	0.04518	N	0.384017	T	0.27697	0.0681	N	0.16368	0.405	0.09310	N	1	B	0.16603	0.018	B	0.10450	0.005	T	0.09930	-1.0652	10	0.14252	T	0.57	-11.1259	2.1932	0.03905	0.1663:0.2844:0.095:0.4544	.	613	Q8WUT4	LRRN4_HUMAN	H	613	ENSP00000368135:R613H	ENSP00000368135:R613H	R	-	2	0	LRRN4	5970053	0.000000	0.05858	0.465000	0.27155	0.520000	0.34377	-1.726000	0.01861	-0.429000	0.07329	-0.258000	0.10820	CGC		0.701	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		8	424	0	0	0	1	0	8	424					T	6022053	C	T	6022053	3	4	79	1	0	0	0	0	1	0	0	0	9075	768	27	1	388	1	LRRN4	20	6022053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47741	6022053	57003467	19995	30312											
LRRN4	164312	broad.mit.edu	37	chr20	6022592	6022592	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgacctgctacagagttggtCgtggagggggcagtcccctc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022592C>T	ENST00000378858.4	-	5	1523	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	433					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAGTTGGTCGTGGAGGGGG	0.647																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(1297-1299)acG>acA		leucine rich repeat neuronal 4							87	82	84					20																	6022592		2203	4300	6503	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6022592C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1299G>A	20.37:g.6022592C>T							p.T433T	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			5	1523	-			433					A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.1299G>A	CCDS13097.1																																																																																				0.647	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		83	331	0	0	0	1	0	83	331					T	6022592	C	T	6022592	2	4	79	1	0	0	0	0	0	0	0	1	9075	871	31	1		1	LRRN4	20	6022592	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539	6022592	57002928	19996	30313											
LRRN4	164312	broad.mit.edu	37	chr20	6031566	6031566	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccagggtcgtcagcCgaggcatcttcctcaggtag	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6031566C>T	ENST00000378858.4	-	3	943	c.719G>A	c.(718-720)cGg>cAg	p.R240Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	240					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGTCGTCAGCCGAGGCATCTT	0.557																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(718-720)cGg>cAg		leucine rich repeat neuronal 4							90	82	85					20																	6031566		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6031566C>T	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.719G>A	20.37:g.6031566C>T	ENSP00000368135:p.Arg240Gln						p.R240Q	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			3	943	-			240					A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.719G>A	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253455	0.39797	.	.	ENSG00000125872	ENST00000378858	T	0.57907	0.37	5.68	2.71	0.32032	.	0.462660	0.21634	N	0.071421	T	0.29945	0.0749	N	0.21097	0.63	0.27634	N	0.947921	B;B	0.33000	0.393;0.185	B;B	0.22601	0.04;0.012	T	0.11179	-1.0598	10	0.33940	T	0.23	-10.6573	5.7998	0.18408	0.1248:0.6111:0.0:0.264	.	240;240	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	Q	240	ENSP00000368135:R240Q	ENSP00000368135:R240Q	R	-	2	0	LRRN4	5979566	0.059000	0.20769	0.998000	0.56505	0.678000	0.39670	0.198000	0.17217	0.347000	0.23924	-0.320000	0.08662	CGG		0.557	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		8	289	0	0	0	1	0	8	289					T	6031566	C	T	6031566	3	4	79	1	0	0	0	0	1	0	0	0	9075	652	23	1	1515	1	LRRN4	20	6031566	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8974	6031566	56993954	19997	30314											
FERMT1	55612	broad.mit.edu	37	chr20	6077578	6077578	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgcttttccaccttctaGggttacttccaaattagaaa	6	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6077578G>A	ENST00000217289.4	-	8	1848	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	FERMT1_ENST00000536936.1_Silent_p.L97L|FERMT1_ENST00000478194.1_5'Flank	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	354	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCTTCTAGGGTTACTTCC	0.423																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(1060-1062)Cta>Tta		fermitin family member 1							142	158	153					20																	6077578		2203	4300	6503	SO:0001819	synonymous_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6077578G>A	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.1060C>T	20.37:g.6077578G>A						FERMT1_ENST00000536936.1_Silent_p.L97L	p.L354L	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			8	1848	-			354			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Silent	SNP	ENST00000217289.4	37	c.1060C>T	CCDS13098.1																																																																																				0.423	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		214	878	0	0	0	1	0	214	878					A	6077578	G	A	6077578	2	1	79	1	0	0	0	0	0	0	0	1	5842	991	35	2		2	FERMT1	20	6077578	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46012	6077578	56947942	19998	30315											
FERMT1	55612	broad.mit.edu	37	chr20	6091159	6091159	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgtataaaccaggacttaCtgcaaggcagggggatcaag	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6091159C>A	ENST00000217289.4	-	5	1321		c.e5-1		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						CCAGGACTTACTGCAAGGCAG	0.383																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.e5-1		fermitin family member 1							137	134	135					20																	6091159		2203	4300	6503	SO:0001630	splice_region_variant	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6091159C>A	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.533-1G>T	20.37:g.6091159C>A						FERMT1_ENST00000536936.1_Intron		NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			5	1321	-								D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Splice_Site	SNP	ENST00000217289.4	37		CCDS13098.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943291	0.53079	.	.	ENSG00000101311	ENST00000217289;ENST00000339538	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0763	0.97746	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FERMT1	6039159	1.000000	0.71417	0.999000	0.59377	0.614000	0.37383	5.684000	0.68197	2.756000	0.94617	0.655000	0.94253	.		0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671	Intron	106	368	1	0	1.33835e-49	1	1.65573e-49	106	368					A	6091159	C	A	6091159	5	1	79	1	0	0	0	0	0	0	1	0	5842	579	20	3	1545	3	FERMT1	20	6091159	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13581	6091159	56934361	19999	30316											
BMP2	650	broad.mit.edu	37	chr20	6750998	6750999	+	Frame_Shift_Ins	INS	-	-	C													ccagcagggacgccgtggtgINScccccctacatgctagacct					rs79417223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6750998_6750999insC	ENST00000378827.4	+	2	1444_1445	c.225_226insC	c.(226-228)cccfs	p.P76fs		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	76					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						ACGCCGTGGTGCCCCCCTACAT	0.653																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(223-228)gtccccfs		bone morphogenetic protein 2	Simvastatin(DB00641)																																			SO:0001589	frameshift_variant	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6750998_6750999insC		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.231dupC	20.37:g.6751004_6751004dupC	ENSP00000368104:p.Pro76fs						p.VP75fs	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			2	1444_1445	+			75						Frame_Shift_Ins	INS	ENST00000378827.4	37	c.225_226insC	CCDS13099.1																																																																																				0.653	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			35	174						35	174	---	---	---	---	C	6750999	-	C	6750998	7	5	79	1	0	1	1	0	0	0	0	0	1461	1306	46	0	227	0	BMP2	20	6750998	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	659839	6750998	56274522	20000	30317											
HAO1	54363	broad.mit.edu	37	chr20	7886939	7886939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctccaaaattttcctcagGagaaaatgataaagtactgg	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7886939G>A	ENST00000378789.3	-	4	634	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	195	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						TTTTCCTCAGGAGAAAATGAT	0.348																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(583-585)Cct>Tct		hydroxyacid oxidase (glycolate oxidase) 1							79	80	80					20																	7886939		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886939G>A	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.583C>T	20.37:g.7886939G>A	ENSP00000368066:p.Pro195Ser						p.P195S	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			4	634	-			195			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.583C>T	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	G	0.862	-0.734970	0.03111	.	.	ENSG00000101323	ENST00000378789	T	0.32988	1.43	5.54	3.37	0.38596	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.247105	0.42172	N	0.000751	T	0.13114	0.0318	N	0.17564	0.495	0.39356	D	0.965848	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10543	-1.0625	10	0.08599	T	0.76	21.5237	3.2671	0.06869	0.3628:0.2371:0.4001:0.0	.	195;195	A8K058;Q9UJM8	.;HAOX1_HUMAN	S	195	ENSP00000368066:P195S	ENSP00000368066:P195S	P	-	1	0	HAO1	7834939	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	2.344000	0.44010	1.321000	0.45227	0.591000	0.81541	CCT		0.348	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			53	249	0	0	0	1	0	53	249					A	7886939	G	A	7886939	3	1	79	1	0	0	0	0	1	0	0	0	6981	1174	41	2	549	2	HAO1	20	7886939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1135941	7886939	55138581	20001	30318											
TMX4	56255	broad.mit.edu	37	chr20	7962940	7962940	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacttttacgctgcctcaaGgagtcttccaccacctctgt	7	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7962940G>T	ENST00000246024.2	-	8	1223	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	336					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCTGCCTCAAGGAGTCTTCCA	0.512																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(1006-1008)tcC>tcA		thioredoxin-related transmembrane protein 4							89	81	83					20																	7962940		2203	4300	6503	SO:0001819	synonymous_variant	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7962940G>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.1008C>A	20.37:g.7962940G>T							p.S336S	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			8	1223	-			336					Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Silent	SNP	ENST00000246024.2	37	c.1008C>A	CCDS13101.1																																																																																				0.512	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		66	282	1	0	2.84776e-26	1	3.27917e-26	66	282					T	7962940	G	T	7962940	2	4	79	1	0	0	0	0	0	0	0	1	16321	987	35	3		3	TMX4	20	7962940	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76001	7962940	55062580	20002	30319											
TMX4	56255	broad.mit.edu	37	chr20	7963119	7963119	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtcctcctcctcttcttcctCtgcttcatcctcatcgccaa	3	19	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963119C>T	ENST00000246024.2	-	8	1044	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	277	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcttcttcctctgcttcatcc	0.502																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(829-831)Gag>Aag		thioredoxin-related transmembrane protein 4							153	116	128					20																	7963119		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963119C>T		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.829G>A	20.37:g.7963119C>T	ENSP00000246024:p.Glu277Lys						p.E277K	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			8	1044	-			277			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.829G>A	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092491	0.36952	.	.	ENSG00000125827	ENST00000246024	T	0.11821	2.74	5.33	5.33	0.75918	.	0.249655	0.36101	N	0.002798	T	0.19287	0.0463	L	0.35288	1.05	0.38875	D	0.956772	D	0.55172	0.97	P	0.51833	0.681	T	0.00728	-1.1591	10	0.72032	D	0.01	-5.5676	14.8709	0.70456	0.0:1.0:0.0:0.0	.	277	Q9H1E5	TMX4_HUMAN	K	277	ENSP00000246024:E277K	ENSP00000246024:E277K	E	-	1	0	TMX4	7911119	0.583000	0.26757	0.955000	0.39395	0.461000	0.32589	4.085000	0.57657	2.653000	0.90120	0.557000	0.71058	GAG		0.502	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		56	256	0	0	0	1	0	56	256					T	7963119	C	T	7963119	3	4	79	1	0	0	0	0	1	0	0	0	16321	922	32	2	224	2	TMX4	20	7963119	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179	7963119	55062401	20003	30320											
TMX4	56255	broad.mit.edu	37	chr20	7963222	7963222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcctcctccgcatcCtgcaactgttcagctctatg	5	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963222C>A	ENST00000246024.2	-	8	941	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	242	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						cctcCGCATCCTGCAACTGTT	0.418																																						ENST00000246024.2																			0				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						c.(724-726)caG>caT		thioredoxin-related transmembrane protein 4							80	64	70					20																	7963222		2203	4300	6503	SO:0001583	missense	56255				cell redox homeostasis|electron transport chain|transport	integral to membrane		g.chr20:7963222C>A		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"Protein disulfide isomerases"	25237	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 14"		"thioredoxin domain containing 13"	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.726G>T	20.37:g.7963222C>A	ENSP00000246024:p.Gln242His						p.Q242H	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN			8	941	-			242			Glu-rich.		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	c.726G>T	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583302	0.46006	.	.	ENSG00000125827	ENST00000246024	T	0.11495	2.77	5.84	4.71	0.59529	.	0.572613	0.17713	N	0.164518	T	0.12603	0.0306	M	0.63428	1.95	0.31062	N	0.71406	P	0.37864	0.61	B	0.34873	0.191	T	0.03545	-1.1026	10	0.49607	T	0.09	-3.9684	10.6879	0.45854	0.0:0.9007:0.0:0.0993	.	242	Q9H1E5	TMX4_HUMAN	H	242	ENSP00000246024:Q242H	ENSP00000246024:Q242H	Q	-	3	2	TMX4	7911222	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.100000	0.41777	2.763000	0.94921	0.557000	0.71058	CAG		0.418	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2	NM_021156		44	179	1	0	1.62957e-23	1	1.85347e-23	44	179					A	7963222	C	A	7963222	3	1	79	1	0	0	0	0	1	0	0	0	16321	680	24	3	327	3	TMX4	20	7963222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103	7963222	55062298	20004	30321											
PLCB1	23236	broad.mit.edu	37	chr20	8113379	8113379	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaagaagggcaccaaAttcgtcaagtgggatgatgt	12	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:8113379A>C	ENST00000338037.6	+	1	108	c.81A>C	c.(79-81)aaA>aaC	p.K27N	PLCB1_ENST00000378641.3_Missense_Mutation_p.K27N|PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	27				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	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						AGGGCACCAAATTCGTCAAGT	0.682																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(79-81)aaA>aaC		phospholipase C, beta 1 (phosphoinositide-specific)							42	35	37					20																	8113379		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8113379A>C	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.81A>C	20.37:g.8113379A>C	ENSP00000338185:p.Lys27Asn					PLCB1_ENST00000378637.2_Missense_Mutation_p.K27N|PLCB1_ENST00000338037.6_Missense_Mutation_p.K27N	p.K27N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			1	556	+			27	MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).				D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.81A>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312533	0.40895	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	T	0.42787	0.1218	L	0.55103	1.725	0.43896	D	0.996524	B;B;D	0.60575	0.0;0.003;0.988	B;B;P	0.50754	0.002;0.007;0.649	T	0.34925	-0.9809	10	0.36615	T	0.2	.	6.0285	0.19667	0.7487:0.166:0.0853:0.0	.	27;27;26	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	N	27;27;27;26	ENSP00000367908:K27N;ENSP00000338185:K27N;ENSP00000367904:K27N;ENSP00000384001:K26N	ENSP00000338185:K27N	K	+	3	2	PLCB1	8061379	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.199000	0.42715	1.929000	0.55896	0.460000	0.39030	AAA		0.682	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			31	141	0	0	0	1	0	31	141					C	8113379	A	C	8113379	3	2	79	1	0	0	0	0	1	0	0	0	12069	98	4	4	83	4	PLCB1	20	8113379	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	150157	8113379	54912141	20005	30322											
PLCB4	5332	broad.mit.edu	37	chr20	9389787	9389787	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcctcagattttctggaAcgctggctgccagatggttt	11	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9389787A>G	ENST00000378493.1	+	20	1937	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	PLCB4_ENST00000378501.2_Missense_Mutation_p.N641S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	641	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTTCTGGAACGCTGGCTGC	0.468																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1921-1923)aAc>aGc		phospholipase C, beta 4							65	54	58					20																	9389787		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389787A>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1922A>G	20.37:g.9389787A>G	ENSP00000367754:p.Asn641Ser					PLCB4_ENST00000378473.3_Missense_Mutation_p.N653S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.N653S|PLCB4_ENST00000278655.4_Missense_Mutation_p.N641S|PLCB4_ENST00000378493.1_Missense_Mutation_p.N641S|PLCB4_ENST00000334005.3_Missense_Mutation_p.N641S	p.N641S	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			20	1937	+			641			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1922A>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750074	0.89753	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.92	5.92	0.95590	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.080904	0.85682	D	0.000000	T	0.76630	0.4014	L	0.45285	1.41	0.80722	D	1	D;B;D;D	0.65815	0.968;0.262;0.995;0.993	P;B;D;P	0.71870	0.693;0.086;0.975;0.841	T	0.78710	-0.2098	10	0.87932	D	0	.	16.3544	0.83230	1.0:0.0:0.0:0.0	.	653;488;641;641	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	641;653;641;641;641;489	ENSP00000334105:N641S;ENSP00000367734:N653S;ENSP00000278655:N641S;ENSP00000367754:N641S;ENSP00000367762:N641S;ENSP00000390616:N489S	ENSP00000278655:N641S	N	+	2	0	PLCB4	9337787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.265000	0.75225	0.459000	0.35465	AAC		0.468	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			36	123	0	0	0	1	0	36	123					G	9389787	A	G	9389787	3	3	79	1	0	0	0	0	1	0	0	0	12072	43	2	4	2040	4	PLCB4	20	9389787	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1276408	9389787	53635733	20006	30323											
PLCB4	5332	broad.mit.edu	37	chr20	9404500	9404500	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggcctccaagccggatatCgacacatttcccttcgaaat	7	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9404500C>T	ENST00000378493.1	+	24	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_ENST00000378501.2_Nonsense_Mutation_p.R797*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	797					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						AGCCGGATATCGACACATTTC	0.448																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2389-2391)Cga>Tga		phospholipase C, beta 4							94	79	84					20																	9404500		2203	4300	6503	SO:0001587	stop_gained	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9404500C>T		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.2389C>T	20.37:g.9404500C>T	ENSP00000367754:p.Arg797*					PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R809*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R809*|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R797*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.R797*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R797*	p.R797*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			24	2404	+			797					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	ENST00000378493.1	37	c.2389C>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	41	9.083261	0.99061	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.72	3.64	0.41730	.	0.057043	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3444	0.60564	0.4142:0.5858:0.0:0.0	.	.	.	.	X	797;809;797;797;797;645	.	ENSP00000278655:R797X	R	+	1	2	PLCB4	9352500	0.998000	0.40836	0.948000	0.38648	0.696000	0.40369	1.218000	0.32467	1.391000	0.46566	0.655000	0.94253	CGA		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			28	145	0	0	0	1	0	28	145					T	9404500	C	T	9404500	4	4	79	1	0	0	0	0	0	1	0	0	12072	876	31	1	2523	1	PLCB4	20	9404500	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14713	9404500	53621020	20007	30324											
PAK7	57144	broad.mit.edu	37	chr20	9538310	9538310	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatgtccctgtgaatcactCcttggttatgaaggtaggag	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9538310C>A	ENST00000378429.3	-	8	2234	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	PAK7_ENST00000353224.5_Missense_Mutation_p.G563V|PAK7_ENST00000378423.1_Missense_Mutation_p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	563	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)			GTGAATCACTCCTTGGTTATG	0.438																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1687-1689)gGa>gTa		p21 protein (Cdc42/Rac)-activated kinase 7							144	123	130					20																	9538310		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9538310C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1688G>T	20.37:g.9538310C>A	ENSP00000367686:p.Gly563Val					PAK7_ENST00000378423.1_Missense_Mutation_p.G563V|PAK7_ENST00000353224.5_Missense_Mutation_p.G563V	p.G563V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		8	2234	-			563			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1688G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047858	0.93740	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.16897	2.31;2.31;2.31	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70992	-0.4721	9	.	.	.	.	19.8171	0.96573	0.0:1.0:0.0:0.0	.	563;563	B0AZM9;Q9P286	.;PAK7_HUMAN	V	563;563;563;511	ENSP00000367686:G563V;ENSP00000322957:G563V;ENSP00000367679:G563V	.	G	-	2	0	PAK7	9486310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.678000	0.91216	0.643000	0.83706	GGA		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			76	311	1	0	1.03218e-28	1	1.20291e-28	76	311					A	9538310	C	A	9538310	3	1	79	1	0	0	0	0	1	0	0	0	11447	855	30	3	487	3	PAK7	20	9538310	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133810	9538310	53487210	20008	30325											
PAK7	57144	broad.mit.edu	37	chr20	9546846	9546846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccgtggagatgtactgCgaactgctctgcagggaggg	17	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9546846C>T	ENST00000378429.3	-	6	1722	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	PAK7_ENST00000353224.5_Silent_p.S392S|PAK7_ENST00000378423.1_Silent_p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	392	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S392S(1)		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)			AGATGTACTGCGAACTGCTCT	0.597																																						ENST00000378429.3																			1	Substitution - coding silent(1)	p.S392S(1)	lung(1)	NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1174-1176)tcG>tcA		p21 protein (Cdc42/Rac)-activated kinase 7							133	127	129					20																	9546846		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546846C>T	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.1176G>A	20.37:g.9546846C>T						PAK7_ENST00000378423.1_Silent_p.S392S|PAK7_ENST00000353224.5_Silent_p.S392S	p.S392S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1722	-			392			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1176G>A	CCDS13107.1																																																																																				0.597	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			108	444	0	0	0	1	0	108	444					T	9546846	C	T	9546846	2	4	79	1	0	0	0	0	0	0	0	1	11447	755	27	1		1	PAK7	20	9546846	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8536	9546846	53478674	20009	30326											
C20orf94	128710	broad.mit.edu	37	chr20	10582383	10582383	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcttcattttatacagaactCtgtgtattccctgacagatt	5	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10582383C>A	ENST00000334534.5	+	6	501	c.321C>A	c.(319-321)ctC>ctA	p.L107L		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	107																	ATACAGAACTCTGTGTATTCC	0.328																																						ENST00000334534.5																			0											c.(319-321)ctC>ctA		SLX4 interacting protein							122	109	113					20																	10582383		2203	4300	6503	SO:0001819	synonymous_variant	128710							g.chr20:10582383C>A	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.321C>A	20.37:g.10582383C>A							p.L107L	NM_001009608.1	NP_001009608.1					6	501	+								Q05CG2|Q05CT9	Silent	SNP	ENST00000334534.5	37	c.321C>A	CCDS33439.1																																																																																				0.328	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		32	205	1	0	4.39465e-27	1	5.08038e-27	32	205					A	10582383	C	A	10582383	2	1	79	1	0	0	0	0	0	0	0	1	2128	900	32	3		3	C20orf94	20	10582383	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1035537	10582383	52443137	20010	30327											
JAG1	182	broad.mit.edu	37	chr20	10620604	10620604	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagcaagggaacaaggaaatCtgtaaggcaggcacaaaacc	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10620604C>A	ENST00000254958.5	-	26	3715		c.e26-1		JAG1_ENST00000423891.2_Splice_Site	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1						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						ACAAGGAAATCTGTAAGGCAG	0.488									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.e26-1		jagged 1							30	26	28					20																	10620604		2203	4300	6503	SO:0001630	splice_region_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620604C>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3200-1G>T	20.37:g.10620604C>A						JAG1_ENST00000423891.2_Splice_Site		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	3715	-								A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Splice_Site	SNP	ENST00000254958.5	37		CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094210	0.56075	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAG1	10568604	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.825000	0.97269	0.655000	0.94253	.		0.488	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	Intron	27	132	1	0	7.07758e-08	1	7.37026e-08	27	132					A	10620604	C	A	10620604	5	1	79	1	0	0	0	0	0	0	1	0	7964	927	32	3	461	3	JAG1	20	10620604	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38221	10620604	52404916	20011	30328											
JAG1	182	broad.mit.edu	37	chr20	10621489	10621489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaacggcagcaatcagCgagctgtttccatcacgttt	9	12	3	0	rs202075581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10621489C>T	ENST00000254958.5	-	25	3656	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S	JAG1_ENST00000423891.2_Silent_p.S888S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					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						CAGCAATCAGCGAGCTGTTTC	0.448									Alagille Syndrome				C|||	4	0.000798722	0.0	0.0	5008	,	,		20009	0.004		0.0	False		,,,				2504	0.0					ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3139-3141)tcG>tcA		jagged 1							113	100	104					20																	10621489		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10621489C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3141G>A	20.37:g.10621489C>T						JAG1_ENST00000423891.2_Silent_p.S888S	p.S1047S	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			25	3656	-			1047					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.3141G>A	CCDS13112.1																																																																																				0.448	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		76	295	0	0	0	1	0	76	295					T	10621489	C	T	10621489	2	4	79	1	0	0	0	0	0	0	0	1	7964	755	27	1		1	JAG1	20	10621489	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	885	10621489	52404031	20012	30329											
SPTLC3	55304	broad.mit.edu	37	chr20	13140662	13140662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttaagggcttttgcaagGcatatgctagagaaaaaaat	9	6	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140662G>A	ENST00000399002.2	+	11	1702	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	476					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CTTTTGCAAGGCATATGCTAG	0.423																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1426-1428)agG>agA		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						80	81	81					20																	13140662		1798	4080	5878	SO:0001819	synonymous_variant	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13140662G>A	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1428G>A	20.37:g.13140662G>A						SPTLC3_ENST00000378194.4_3'UTR	p.R476R	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			11	1702	+			476					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	c.1428G>A	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663322	0.14710	.	.	ENSG00000172296	ENST00000431275	.	.	.	5.84	-2.71	0.05986	.	.	.	.	.	T	0.58221	0.2107	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57985	-0.7716	4	.	.	.	-19.6967	12.6826	0.56930	0.7065:0.0:0.2935:0.0	.	.	.	.	D	74	.	.	G	+	2	0	SPTLC3	13088662	0.246000	0.23909	0.499000	0.27577	0.783000	0.44284	-0.119000	0.10676	-0.325000	0.08577	-0.768000	0.03414	GGC		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		84	429	0	0	0	1	0	84	429					A	13140662	G	A	13140662	2	1	79	1	0	0	0	0	0	0	0	1	15177	1194	42	2		2	SPTLC3	20	13140662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2519173	13140662	49884858	20013	30330											
SPTLC3	55304	broad.mit.edu	37	chr20	13140767	13140767	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcagcggcacatacccgggaGatgttagacacggtgagtac	13	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140767G>T	ENST00000399002.2	+	11	1807	c.1533G>T	c.(1531-1533)gaG>gaT	p.E511D	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	511					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATACCCGGGAGATGTTAGACA	0.522																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1531-1533)gaG>gaT		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						70	72	72					20																	13140767		1916	4136	6052	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13140767G>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1533G>T	20.37:g.13140767G>T	ENSP00000381968:p.Glu511Asp					SPTLC3_ENST00000378194.4_3'UTR	p.E511D	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			11	1807	+			511					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1533G>T	CCDS13115.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.748193|2.748193	0.49257|0.49257	.|.	.|.	ENSG00000172296|ENSG00000172296	ENST00000399002|ENST00000431275	D|.	0.95690|.	-3.78|.	5.77|5.77	2.32|2.32	0.28847|0.28847	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.144611|.	0.64402|.	D|.	0.000009|.	T|T	0.57770|0.57770	0.2076|0.2076	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.30664|.	0.289|.	B|.	0.40477|.	0.33|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.51188|.	T|.	0.08|.	-18.9757|-18.9757	6.9744|6.9744	0.24666|0.24666	0.2129:0.0:0.6567:0.1303|0.2129:0.0:0.6567:0.1303	.|.	511|.	Q9NUV7|.	SPTC3_HUMAN|.	D|I	511|109	ENSP00000381968:E511D|.	ENSP00000381968:E511D|.	E|R	+|+	3|2	2|0	SPTLC3|SPTLC3	13088767|13088767	1.000000|1.000000	0.71417|0.71417	0.281000|0.281000	0.24762|0.24762	0.942000|0.942000	0.58702|0.58702	1.695000|1.695000	0.37763|0.37763	0.780000|0.780000	0.33566|0.33566	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.522	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		7	348	1	0	8.12818e-05	1	8.2724e-05	7	348					T	13140767	G	T	13140767	3	4	79	1	0	0	0	0	1	0	0	0	15177	933	33	3	1575	3	SPTLC3	20	13140767	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	105	13140767	49884753	20014	30331											
ISM1	140862	broad.mit.edu	37	chr20	13279702	13279702	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctaccccactgaggtgGcctacagcacggccgacatc	10	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	ENST00000262487.4	+	6	997	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	331	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						CACTGAGGTGGCCTACAGCAC	0.582																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(991-993)Gcc>Acc		isthmin 1, angiogenesis inhibitor							46	53	51					20																	13279702		2120	4239	6359	SO:0001583	missense	140862					extracellular region		g.chr20:13279702G>A	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.991G>A	20.37:g.13279702G>A	ENSP00000262487:p.Ala331Thr					TASP1_ENST00000539805.1_Intron	p.A331T	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			6	997	+			331			AMOP.		Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	c.991G>A	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491755	0.84962	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.48201	0.82;0.83	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.62780	0.2456	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61969	-0.6953	10	0.59425	D	0.04	-24.2273	20.2133	0.98290	0.0:0.0:1.0:0.0	.	331	B1AKI9	ISM1_HUMAN	T	331;285	ENSP00000262487:A331T;ENSP00000409938:A285T	ENSP00000262487:A331T	A	+	1	0	ISM1	13227702	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	9.822000	0.99363	2.786000	0.95864	0.655000	0.94253	GCC		0.582	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			30	102	0	0	0	1	0	30	102					A	13279702	G	A	13279702	3	1	79	1	0	0	0	0	1	0	0	0	7890	1203	42	2	1013	2	ISM1	20	13279702	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138935	13279702	49745818	20015	30332											
TASP1	55617	broad.mit.edu	37	chr20	13561576	13561576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagccgagagcttgccCttctgcccttcacataagag	9	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13561576C>A	ENST00000337743.4	-	6	576	c.456G>T	c.(454-456)aaG>aaT	p.K152N	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	152					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						AGAGCTTGCCCTTCTGCCCTT	0.423																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(454-456)aaG>aaT		taspase, threonine aspartase, 1							128	123	125					20																	13561576		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13561576C>A	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.456G>T	20.37:g.13561576C>A	ENSP00000338624:p.Lys152Asn					TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	p.K152N	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			6	576	-			152					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.456G>T	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056304	0.36277	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.93307	-3.2;-2.97	5.73	3.79	0.43588	.	0.041485	0.85682	D	0.000000	D	0.86887	0.6041	L	0.29908	0.895	0.80722	D	1	B;B	0.24132	0.098;0.061	B;B	0.25759	0.046;0.063	T	0.81477	-0.0915	10	0.30854	T	0.27	-13.0612	7.8134	0.29245	0.0:0.661:0.0:0.339	.	152;129	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	N	129;152;129	ENSP00000338624:K152N;ENSP00000400580:K129N	ENSP00000338624:K152N	K	-	3	2	TASP1	13509576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.268000	0.33062	1.413000	0.46997	0.655000	0.94253	AAG		0.423	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		12	466	1	0	1.52009e-12	1	1.63397e-12	12	466					A	13561576	C	A	13561576	3	1	79	1	0	0	0	0	1	0	0	0	15641	680	24	3	842	3	TASP1	20	13561576	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	281874	13561576	49463944	20016	30333											
ESF1	51575	broad.mit.edu	37	chr20	13695780	13695780	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aattgaacaagtgggaagtgTacattgcctgaaaccgtgca	11	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13695780T>G	ENST00000202816.1	-	14	2404	c.2297A>C	c.(2296-2298)tAc>tCc	p.Y766S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	766	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTGGGAAGTGTACATTGCCTG	0.363																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2296-2298)tAc>tCc		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							96	99	98					20																	13695780		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13695780T>G		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2297A>C	20.37:g.13695780T>G	ENSP00000202816:p.Tyr766Ser						p.Y766S	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			14	2404	-			766			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.2297A>C	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696584	0.68386	.	.	ENSG00000089048	ENST00000202816	T	0.27557	1.66	6.05	6.05	0.98169	NUC153 (1);	0.074024	0.56097	D	0.000028	T	0.57460	0.2055	M	0.82823	2.61	0.44736	D	0.99773	D	0.76494	0.999	D	0.75020	0.985	T	0.63129	-0.6706	10	0.72032	D	0.01	0.2465	12.2619	0.54655	0.1341:0.0:0.0:0.8659	.	766	Q9H501	ESF1_HUMAN	S	766	ENSP00000202816:Y766S	ENSP00000202816:Y766S	Y	-	2	0	ESF1	13643780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.297000	0.65704	2.320000	0.78422	0.528000	0.53228	TAC		0.363	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		101	378	0	0	0	1	0	101	378					G	13695780	T	G	13695780	3	3	79	1	0	0	0	0	1	0	0	0	5269	1638	57	4	262	4	ESF1	20	13695780	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	134204	13695780	49329740	20017	30334											
ESF1	51575	broad.mit.edu	37	chr20	13698151	13698151	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcatccatcataagcaaaGccatttcagcctgtagagag	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13698151G>T	ENST00000202816.1	-	13	2233	c.2126C>A	c.(2125-2127)gCt>gAt	p.A709D		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	709	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CATAAGCAAAGCCATTTCAGC	0.398																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.(2125-2127)gCt>gAt		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							137	122	127					20																	13698151		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13698151G>T		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2126C>A	20.37:g.13698151G>T	ENSP00000202816:p.Ala709Asp						p.A709D	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			13	2233	-			709			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.2126C>A	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908977	0.52439	.	.	ENSG00000089048	ENST00000202816	T	0.24538	1.85	5.87	4.92	0.64577	.	0.394143	0.25971	N	0.027123	T	0.33933	0.0880	M	0.74258	2.255	0.44234	D	0.997073	P	0.46706	0.883	B	0.41571	0.36	T	0.27088	-1.0084	10	0.39692	T	0.17	1.9035	17.0563	0.86534	0.0:0.1273:0.8727:0.0	.	709	Q9H501	ESF1_HUMAN	D	709	ENSP00000202816:A709D	ENSP00000202816:A709D	A	-	2	0	ESF1	13646151	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.566000	0.67372	1.616000	0.50265	0.655000	0.94253	GCT		0.398	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		23	420	1	0	1.55469e-16	1	1.70887e-16	23	420					T	13698151	G	T	13698151	3	4	79	1	0	0	0	0	1	0	0	0	5269	971	34	3	437	3	ESF1	20	13698151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2371	13698151	49327369	20018	30335											
ESF1	51575	broad.mit.edu	37	chr20	13714488	13714488	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgcactttctttaagAcctgaggaaaaatccaaata	5	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	ENST00000202816.1	-	10	1937	c.1830T>G	c.(1828-1830)ggT>ggG	p.G610G		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	610	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTCTTTAAGACCTGAGGAAA	0.289																																						ENST00000202816.1																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						c.e10-1		ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)							135	139	137					20																	13714488		2203	4299	6502	SO:0001630	splice_region_variant	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13714488A>C		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1829-1T>G	20.37:g.13714488A>C							p.G610_splice	NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN			10	1937	-			610			Lys-rich.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Splice_Site	SNP	ENST00000202816.1	37	c.1828_splice	CCDS13117.1																																																																																				0.289	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	Silent	101	471	0	0	0	1	0	101	471					C	13714488	A	C	13714488	5	2	79	1	0	0	0	0	0	0	1	0	5269	289	10	4	745	4	ESF1	20	13714488	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16337	13714488	49311032	20019	30336											
SEL1L2	80343	broad.mit.edu	37	chr20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtttccagtttcatgacgGcaaagagcacaggtatgtgg	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13830889G>A	ENST00000284951.5	-	19	1969	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	632						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1894-1896)gCc>gTc		sel-1 suppressor of lin-12-like 2 (C. elegans)							113	110	111					20																	13830889		1988	4163	6151	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830889G>A	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.1895C>T	20.37:g.13830889G>A	ENSP00000284951:p.Ala632Val					SEL1L2_ENST00000378072.5_Missense_Mutation_p.A519V|SEL1L2_ENST00000486903.1_5'UTR	p.A632V			Q5TEA6	SE1L2_HUMAN			19	1969	-			632					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1895C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.457295	0.96223	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;1.77	5.97	5.97	0.96955	.	0.092184	0.47852	D	0.000215	T	0.77505	0.4140	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	D;D	0.80764	0.985;0.994	T	0.78494	-0.2182	10	0.66056	D	0.02	-4.6879	17.9177	0.88957	0.0:0.0:1.0:0.0	.	519;632	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	519;632	ENSP00000367312:A519V;ENSP00000284951:A632V	ENSP00000284951:A632V	A	-	2	0	SEL1L2	13778889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.775000	0.91772	2.828000	0.97474	0.655000	0.94253	GCC		0.458	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		73	283	0	0	0	1	0	73	283					A	13830889	G	A	13830889	3	1	79	1	0	0	0	0	1	0	0	0	14061	1203	42	2	179	2	SEL1L2	20	13830889	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116401	13830889	49194631	20020	30337											
SEL1L2	80343	broad.mit.edu	37	chr20	13868480	13868480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgtagaacattgattcccGacaaatatctgtacccctaa	5	11	2	2	rs372260139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868480G>A	ENST00000284951.5	-	8	754	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	227						integral component of membrane (GO:0016021)		p.S227L(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						ATTGATTCCCGACAAATATCT	0.303																																						ENST00000284951.5																			1	Substitution - Missense(1)	p.S227L(1)	large_intestine(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(679-681)tCg>tTg		sel-1 suppressor of lin-12-like 2 (C. elegans)		G	LEU/SER	1,3661		0,1,1830	131	127	128		680	5.7	1	20		128	0,8160		0,0,4080	no	missense	SEL1L2	NM_025229.1	145	0,1,5910	AA,AG,GG		0.0,0.0273,0.0085	possibly-damaging	227/689	13868480	1,11821	1831	4080	5911	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13868480G>A	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.680C>T	20.37:g.13868480G>A	ENSP00000284951:p.Ser227Leu					SEL1L2_ENST00000378072.5_Missense_Mutation_p.S227L|SEL1L2_ENST00000486903.1_5'UTR	p.S227L			Q5TEA6	SE1L2_HUMAN			8	754	-			227					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.680C>T		.	.	.	.	.	.	.	.	.	.	G	14.60	2.583741	0.46006	2.73E-4	0.0	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.51817	0.69;0.69	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);	0.133415	0.34853	N	0.003627	T	0.48333	0.1494	M	0.64080	1.96	0.37370	D	0.911584	B;D	0.57571	0.323;0.98	B;P	0.46110	0.095;0.504	T	0.50516	-0.8819	10	0.12103	T	0.63	-9.039	15.3235	0.74141	0.0:0.0:1.0:0.0	.	227;227	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	L	227	ENSP00000367312:S227L;ENSP00000284951:S227L	ENSP00000284951:S227L	S	-	2	0	SEL1L2	13816480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.574000	0.53863	2.674000	0.91012	0.650000	0.86243	TCG		0.303	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		89	428	0	0	0	1	0	89	428					A	13868480	G	A	13868480	3	1	79	1	0	0	0	0	1	0	0	0	14061	1059	37	1	1438	1	SEL1L2	20	13868480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37591	13868480	49157040	20021	30338											
SEL1L2	80343	broad.mit.edu	37	chr20	13868619	13868619	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggacatcatgtttcctccaGcacttccaaaggtgtaatat	8	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868619G>T	ENST00000284951.5	-	7	706	c.632C>A	c.(631-633)gCt>gAt	p.A211D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	211						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTCCTCCAGCACTTCCAAA	0.343																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(631-633)gCt>gAt		sel-1 suppressor of lin-12-like 2 (C. elegans)							68	63	65					20																	13868619		1824	4082	5906	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13868619G>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.632C>A	20.37:g.13868619G>T	ENSP00000284951:p.Ala211Asp					SEL1L2_ENST00000378072.5_Missense_Mutation_p.A211D|SEL1L2_ENST00000486903.1_5'UTR	p.A211D			Q5TEA6	SE1L2_HUMAN			7	706	-			211					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.632C>A		.	.	.	.	.	.	.	.	.	.	G	19.56	3.851123	0.71719	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.44083	0.93;0.93	5.58	4.63	0.57726	Tetratricopeptide-like helical (1);	0.470461	0.19972	N	0.101948	T	0.41282	0.1152	N	0.17723	0.515	0.35851	D	0.826768	D;D	0.69078	0.982;0.997	P;D	0.67548	0.796;0.952	T	0.25328	-1.0135	10	0.12430	T	0.62	-6.6926	9.3908	0.38372	0.0946:0.0:0.9054:0.0	.	211;211	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	D	211	ENSP00000367312:A211D;ENSP00000284951:A211D	ENSP00000284951:A211D	A	-	2	0	SEL1L2	13816619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.615000	0.88500	0.650000	0.86243	GCT		0.343	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		37	186	1	0	2.1956e-27	1	2.54205e-27	37	186					T	13868619	G	T	13868619	3	4	79	1	0	0	0	0	1	0	0	0	14061	971	34	3	1490	3	SEL1L2	20	13868619	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	139	13868619	49156901	20022	30339											
SEL1L2	80343	broad.mit.edu	37	chr20	13869125	13869125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttagcttgatcatattccaTtcctattccataagaagaca	4	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13869125T>C	ENST00000284951.5	-	6	657	c.583A>G	c.(583-585)Atg>Gtg	p.M195V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	195						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCATATTCCATTCCTATTCCA	0.264																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(583-585)Atg>Gtg		sel-1 suppressor of lin-12-like 2 (C. elegans)							53	48	50					20																	13869125		1803	4064	5867	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13869125T>C	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.583A>G	20.37:g.13869125T>C	ENSP00000284951:p.Met195Val					SEL1L2_ENST00000378072.5_Missense_Mutation_p.M195V|SEL1L2_ENST00000486903.1_5'UTR	p.M195V			Q5TEA6	SE1L2_HUMAN			6	657	-			195					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.583A>G		.	.	.	.	.	.	.	.	.	.	T	1.073	-0.669328	0.03403	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.41065	1.01;1.01	5.7	3.43	0.39272	Tetratricopeptide-like helical (1);	0.219927	0.41500	N	0.000872	T	0.10981	0.0268	N	0.00793	-1.18	0.31497	N	0.665227	B;B	0.06786	0.001;0.001	B;B	0.08055	0.0;0.003	T	0.30446	-0.9978	10	0.02654	T	1	-8.1736	6.8787	0.24160	0.0:0.1789:0.0:0.8211	.	195;195	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	195	ENSP00000367312:M195V;ENSP00000284951:M195V	ENSP00000284951:M195V	M	-	1	0	SEL1L2	13817125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	0.975000	0.38392	0.528000	0.53228	ATG		0.264	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		13	46	0	0	0	1	0	13	46					C	13869125	T	C	13869125	3	2	79	1	0	0	0	0	1	0	0	0	14061	1493	52	4	1543	4	SEL1L2	20	13869125	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	506	13869125	49156395	20023	30340											
SEL1L2	80343	broad.mit.edu	37	chr20	13971165	13971165	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tatcaatatctctattaacaGagacaagggcttcatcttct	5	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13971165G>A	ENST00000284951.5	-	1	90	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SEL1L2_ENST00000486903.1_Intron|SEL1L2_ENST00000378072.5_Silent_p.L6L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	6						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTATTAACAGAGACAAGGGC	0.418																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(16-18)Ctg>Ttg		sel-1 suppressor of lin-12-like 2 (C. elegans)							102	95	97					20																	13971165		1859	4105	5964	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13971165G>A	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.16C>T	20.37:g.13971165G>A						SEL1L2_ENST00000378072.5_Silent_p.L6L|SEL1L2_ENST00000486903.1_Intron	p.L6L			Q5TEA6	SE1L2_HUMAN			1	90	-			6					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.16C>T																																																																																					0.418	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		60	306	0	0	0	1	0	60	306					A	13971165	G	A	13971165	2	1	79	1	0	0	0	0	0	0	0	1	14061	933	33	2		2	SEL1L2	20	13971165	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102040	13971165	49054355	20024	30341											
FLRT3	23767	broad.mit.edu	37	chr20	14306234	14306234	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgatctgagtctggaataCcactgtctctgtagcttcgg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14306234C>T	ENST00000378053.3	-	2	2175	c.1919G>A	c.(1918-1920)gGt>gAt	p.G640D	FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	640					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTCTGGAATACCACTGTCTCT	0.423																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1918-1920)gGt>gAt		fibronectin leucine rich transmembrane protein 3							306	261	277					20																	14306234		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306234C>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1919G>A	20.37:g.14306234C>T	ENSP00000367292:p.Gly640Asp					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G640D|MACROD2_ENST00000217246.4_Intron	p.G640D	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	2175	-		Colorectal(1;0.0464)	640					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1919G>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006577	0.54361	.	.	ENSG00000125848	ENST00000378053;ENST00000341420	T;T	0.62788	0.0;0.0	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.76796	-0.2827	10	0.66056	D	0.02	-12.6026	20.8598	0.99761	0.0:1.0:0.0:0.0	.	640	Q9NZU0	FLRT3_HUMAN	D	640	ENSP00000367292:G640D;ENSP00000339912:G640D	ENSP00000339912:G640D	G	-	2	0	FLRT3	14254234	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.999000	0.70665	2.937000	0.99478	0.650000	0.86243	GGT		0.423	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		20	626	0	0	0	1	0	20	626					T	14306234	C	T	14306234	3	4	79	1	0	0	0	0	1	0	0	0	5965	507	18	2	34	2	FLRT3	20	14306234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	335069	14306234	48719286	20025	30342											
FLRT3	23767	broad.mit.edu	37	chr20	14307515	14307515	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcacctaaaccatgaTtgttcaacaggtttccatct	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307515T>G	ENST00000378053.3	-	2	894	c.638A>C	c.(637-639)aAt>aCt	p.N213T	FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	213					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAAACCATGATTGTTCAACAG	0.443																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(637-639)aAt>aCt		fibronectin leucine rich transmembrane protein 3							66	65	66					20																	14307515		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307515T>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.638A>C	20.37:g.14307515T>G	ENSP00000367292:p.Asn213Thr					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.N213T|MACROD2_ENST00000217246.4_Intron	p.N213T	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	894	-		Colorectal(1;0.0464)	213					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.638A>C	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.175522	0.57692	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.02301	4.35;4.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.10874	0.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.62506	-0.6840	10	0.44086	T	0.13	-15.4867	16.8061	0.85666	0.0:0.0:0.0:1.0	.	213	Q9NZU0	FLRT3_HUMAN	T	213	ENSP00000367292:N213T;ENSP00000339912:N213T	ENSP00000339912:N213T	N	-	2	0	FLRT3	14255515	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	AAT		0.443	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		60	273	0	0	0	1	0	60	273					G	14307515	T	G	14307515	3	3	79	1	0	0	0	0	1	0	0	0	5965	1493	52	4	1315	4	FLRT3	20	14307515	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1281	14307515	48718005	20026	30343											
FLRT3	23767	broad.mit.edu	37	chr20	14307947	14307947	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatcccagcattatttattTggttgttctgaaggtagaga	10	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307947T>C	ENST00000378053.3	-	2	462	c.206A>G	c.(205-207)cAa>cGa	p.Q69R	FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	69			Q -> K (in HH21; rare variant associated with susceptibility to disease; the patient has a second mutation in the HH- associated gene FGFR1). {ECO:0000269|PubMed:23643382}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATTATTTATTTGGTTGTTCTG	0.393																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(205-207)cAa>cGa		fibronectin leucine rich transmembrane protein 3							121	129	126					20																	14307947		2202	4300	6502	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307947T>C	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.206A>G	20.37:g.14307947T>C	ENSP00000367292:p.Gln69Arg					MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.Q69R|MACROD2_ENST00000217246.4_Intron	p.Q69R	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	462	-		Colorectal(1;0.0464)	69					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.206A>G	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562035	0.27915	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.39787	1.06;1.06	6.06	4.94	0.65067	.	0.143023	0.49916	D	0.000123	T	0.28267	0.0698	N	0.16833	0.445	0.44834	D	0.997845	B	0.14012	0.009	B	0.15052	0.012	T	0.03354	-1.1045	10	0.30078	T	0.28	-10.4966	13.4394	0.61104	0.0:0.0:0.1308:0.8692	.	69	Q9NZU0	FLRT3_HUMAN	R	69	ENSP00000367292:Q69R;ENSP00000339912:Q69R	ENSP00000339912:Q69R	Q	-	2	0	FLRT3	14255947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.758000	0.68776	1.077000	0.40990	0.533000	0.62120	CAA		0.393	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		131	599	0	0	0	1	0	131	599					C	14307947	T	C	14307947	3	2	79	1	0	0	0	0	1	0	0	0	5965	1812	63	4	1747	4	FLRT3	20	14307947	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	432	14307947	48717573	20027	30344											
FLRT3	23767	broad.mit.edu	37	chr20	14308063	14308063	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgacacacagatggacaGgatttagccataactgatag	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14308063G>A	ENST00000378053.3	-	2	346	c.90C>T	c.(88-90)tcC>tcT	p.S30S	FLRT3_ENST00000341420.4_Silent_p.S30S|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	30	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGATGGACAGGATTTAGCCA	0.478																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(88-90)tcC>tcT		fibronectin leucine rich transmembrane protein 3							112	101	105					20																	14308063		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14308063G>A	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.90C>T	20.37:g.14308063G>A						MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.S30S|MACROD2_ENST00000217246.4_Intron	p.S30S	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	346	-		Colorectal(1;0.0464)	30			LRRNT.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.90C>T	CCDS13121.1																																																																																				0.478	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		75	378	0	0	0	1	0	75	378					A	14308063	G	A	14308063	2	1	79	1	0	0	0	0	0	0	0	1	5965	987	35	2		2	FLRT3	20	14308063	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116	14308063	48717457	20028	30345											
MACROD2	140733	broad.mit.edu	37	chr20	14474150	14474150	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcttcttggaggaggAggtggtaagtcctgaacatc	14	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14474150A>T	ENST00000310348.4	+	4	297	c.297A>T	c.(295-297)ggA>ggT	p.G99G	MACROD2_ENST00000217246.4_Silent_p.G99G			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	99	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.|Substrate binding.				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)				TTGGAGGAGGAGGTGGTAAGT	0.279																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(295-297)ggA>ggT		MACRO domain containing 2							123	115	117					20																	14474150		1811	4066	5877	SO:0001819	synonymous_variant	140733							g.chr20:14474150A>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.297A>T	20.37:g.14474150A>T						MACROD2_ENST00000310348.4_Silent_p.G99G	p.G99G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			4	692	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	99			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	c.297A>T	CCDS13120.2																																																																																				0.279	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		29	322	0	0	0	1	0	29	322					T	14474150	A	T	14474150	2	4	79	1	0	0	0	0	0	0	0	1	9185	291	11	5		5	MACROD2	20	14474150	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	166087	14474150	48551370	20029	30346											
MACROD2	140733	broad.mit.edu	37	chr20	15948212	15948212	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgttagattttgcaaaggatGaaaatattacaaaaggcggt	10	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948212G>A	ENST00000310348.4	+	13	922	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MACROD2_ENST00000378058.3_Missense_Mutation_p.E73K|MACROD2_ENST00000217246.4_Missense_Mutation_p.E308K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E73K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	308	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)				TGCAAAGGATGAAAATATTAC	0.358																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(922-924)Gaa>Aaa		MACRO domain containing 2							113	116	115					20																	15948212		2203	4300	6503	SO:0001583	missense	140733							g.chr20:15948212G>A	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.922G>A	20.37:g.15948212G>A	ENSP00000309809:p.Glu308Lys					MACROD2_ENST00000378058.3_Missense_Mutation_p.E73K|MACROD2_ENST00000402914.1_Missense_Mutation_p.E73K|MACROD2_ENST00000310348.4_Missense_Mutation_p.E308K	p.E308K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			13	1317	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	308			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.922G>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424905	0.25639	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.47528	2.52;2.52;0.84;0.84	5.33	3.39	0.38822	.	0.249682	0.28796	N	0.014119	T	0.23806	0.0576	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	0.11817	-1.0572	10	0.42905	T	0.14	-9.2955	5.5574	0.17123	0.1679:0.0:0.6756:0.1565	.	308;308	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	308;308;73;73	ENSP00000217246:E308K;ENSP00000309809:E308K;ENSP00000385290:E73K;ENSP00000367297:E73K	ENSP00000217246:E308K	E	+	1	0	MACROD2	15896212	0.914000	0.31030	0.991000	0.47740	0.230000	0.25150	0.803000	0.27083	0.739000	0.32628	0.655000	0.94253	GAA		0.358	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		58	321	0	0	0	1	0	58	321					A	15948212	G	A	15948212	3	1	79	1	0	0	0	0	1	0	0	0	9185	1291	45	2	972	2	MACROD2	20	15948212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1474062	15948212	47077308	20030	30347											
MACROD2	140733	broad.mit.edu	37	chr20	15948254	15948254	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgacagatcattctgtgCgtgaccaagatcatcccgat	9	10	3	4	rs150223084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948254C>T	ENST00000310348.4	+	13	964	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	MACROD2_ENST00000378058.3_Missense_Mutation_p.R87C|MACROD2_ENST00000217246.4_Missense_Mutation_p.R322C|MACROD2_ENST00000402914.1_Missense_Mutation_p.R87C			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	322	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)				TCATTCTGTGCGTGACCAAGA	0.348																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(964-966)Cgt>Tgt		MACRO domain containing 2		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	134	135	135		259,964	0.3	0.2	20	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MACROD2	NM_001033087.1,NM_080676.5	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	87/214,322/426	15948254	1,13005	2203	4300	6503	SO:0001583	missense	140733							g.chr20:15948254C>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.964C>T	20.37:g.15948254C>T	ENSP00000309809:p.Arg322Cys					MACROD2_ENST00000378058.3_Missense_Mutation_p.R87C|MACROD2_ENST00000402914.1_Missense_Mutation_p.R87C|MACROD2_ENST00000310348.4_Missense_Mutation_p.R322C	p.R322C	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			13	1359	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	322			Glu-rich.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.964C>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.487179	0.00161	0.0	1.16E-4	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.42513	2.61;2.6;0.97;0.97	5.33	0.335	0.15953	.	0.644521	0.14708	N	0.303106	T	0.09642	0.0237	N	0.00210	-1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31052	-0.9957	10	0.44086	T	0.13	0.0	4.992	0.14218	0.0:0.2541:0.1503:0.5956	.	322;322	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	C	322;322;87;87	ENSP00000217246:R322C;ENSP00000309809:R322C;ENSP00000385290:R87C;ENSP00000367297:R87C	ENSP00000217246:R322C	R	+	1	0	MACROD2	15896254	0.005000	0.15991	0.187000	0.23214	0.074000	0.17049	-0.242000	0.08928	0.411000	0.25702	-0.294000	0.09567	CGT		0.348	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		72	407	0	0	0	1	0	72	407					T	15948254	C	T	15948254	3	4	79	1	0	0	0	0	1	0	0	0	9185	768	27	1	1014	1	MACROD2	20	15948254	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42	15948254	47077266	20031	30348											
MACROD2	140733	broad.mit.edu	37	chr20	16021894	16021894	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaagtgaaggctccaGtgacctagaaaatactccag	11	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16021894G>T	ENST00000310348.4	+	16	1202	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000217246.4_Missense_Mutation_p.S401I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	401					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)				GAAGGCTCCAGTGACCTAGAA	0.448																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(1201-1203)aGt>aTt		MACRO domain containing 2							80	80	80					20																	16021894		2203	4299	6502	SO:0001583	missense	140733							g.chr20:16021894G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1202G>T	20.37:g.16021894G>T	ENSP00000309809:p.Ser401Ile					MACROD2_ENST00000378058.3_Missense_Mutation_p.S166I|MACROD2_ENST00000402914.1_Missense_Mutation_p.S166I|MACROD2_ENST00000310348.4_Missense_Mutation_p.S401I|MACROD2_ENST00000407045.3_Missense_Mutation_p.S52I	p.S401I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			16	1597	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	401					A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.1202G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	3.203	-0.163362	0.06502	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.51325	2.03;2.3;0.71;0.71	5.37	2.31	0.28768	.	1.218200	0.05691	N	0.592088	T	0.45034	0.1322	L	0.36672	1.1	0.09310	N	1	B;B;B	0.18461	0.023;0.017;0.028	B;B;B	0.32583	0.148;0.01;0.022	T	0.49041	-0.8980	10	0.87932	D	0	2.7006	8.5224	0.33285	0.1475:0.0:0.7257:0.1268	.	52;401;401	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	I	401;401;166;166;52	ENSP00000217246:S401I;ENSP00000309809:S401I;ENSP00000385290:S166I;ENSP00000367297:S166I	ENSP00000217246:S401I	S	+	2	0	MACROD2	15969894	0.004000	0.15560	0.002000	0.10522	0.081000	0.17604	0.922000	0.28734	0.071000	0.16664	-0.797000	0.03246	AGT		0.448	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		24	105	1	0	3.83957e-06	1	3.94984e-06	24	105					T	16021894	G	T	16021894	3	4	79	1	0	0	0	0	1	0	0	0	9185	1029	36	3	1264	3	MACROD2	20	16021894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73640	16021894	47003626	20032	30349											
KIF16B	55614	broad.mit.edu	37	chr20	16355009	16355009	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatctttttgaacaccatcGacctcataaatcttctgttt	4	10	4	2	rs567987197		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16355009G>A	ENST00000354981.2	-	20	3400	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V|KIF16B_ENST00000408042.1_Silent_p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1081					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						GAACACCATCGACCTCATAAA	0.443																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3241-3243)gtC>gtT		kinesin family member 16B							129	110	116					20																	16355009		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16355009G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3243C>T	20.37:g.16355009G>A						KIF16B_ENST00000408042.1_Silent_p.V1081V|KIF16B_ENST00000355755.3_Silent_p.V1081V|KIF16B_ENST00000378003.2_Silent_p.V307V	p.V1081V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			20	3400	-			1081					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3243C>T	CCDS13122.1																																																																																				0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		70	311	0	0	0	1	0	70	311					A	16355009	G	A	16355009	2	1	79	1	0	0	0	0	0	0	0	1	8308	1045	37	1		1	KIF16B	20	16355009	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333115	16355009	46670511	20033	30350											
KIF16B	55614	broad.mit.edu	37	chr20	16486701	16486701	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgttccccagagtcacgagGgacttgttaatatttccccc	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16486701G>T	ENST00000354981.2	-	8	991	c.834C>A	c.(832-834)tcC>tcA	p.S278S	KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	278	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						GAGTCACGAGGGACTTGTTAA	0.512																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(832-834)tcC>tcA		kinesin family member 16B							119	110	113					20																	16486701		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16486701G>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.834C>A	20.37:g.16486701G>T						KIF16B_ENST00000408042.1_Silent_p.S278S|KIF16B_ENST00000355755.3_Silent_p.S278S|KIF16B_ENST00000378003.2_5'UTR	p.S278S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			8	991	-			278			Kinesin-motor.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.834C>A	CCDS13122.1																																																																																				0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		13	494	1	0	1.49906e-05	1	1.53515e-05	13	494					T	16486701	G	T	16486701	2	4	79	1	0	0	0	0	0	0	0	1	8308	1219	43	3		3	KIF16B	20	16486701	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	131692	16486701	46538819	20034	30351											
OTOR	56914	broad.mit.edu	37	chr20	16729634	16729634	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taaaagaaaatggagctggaGaattttgggctggcagtgta	14	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16729634G>T	ENST00000246081.2	+	2	282	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	80	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGAGCTGGAGAATTTTGGGC	0.363																																						ENST00000246081.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(238-240)Gaa>Taa		otoraplin							62	65	64					20																	16729634		2203	4300	6503	SO:0001587	stop_gained	56914				sensory perception of sound	extracellular region		g.chr20:16729634G>T	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.238G>T	20.37:g.16729634G>T	ENSP00000246081:p.Glu80*						p.E80*	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN			2	282	+			80			SH3.		D3DW22|Q3MIU6	Nonsense_Mutation	SNP	ENST00000246081.2	37	c.238G>T	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	G	37	6.444330	0.97572	.	.	ENSG00000125879	ENST00000246081	.	.	.	5.93	5.93	0.95920	.	0.108254	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-33.135	18.5344	0.91004	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000246081:E80X	E	+	1	0	OTOR	16677634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.069000	0.89491	2.826000	0.97356	0.655000	0.94253	GAA		0.363	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			61	227	1	0	9.53978e-28	1	1.10624e-27	61	227					T	16729634	G	T	16729634	4	4	79	1	0	0	0	0	0	1	0	0	11350	943	33	3	244	3	OTOR	20	16729634	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	242933	16729634	46295886	20035	30352											
PCSK2	5126	broad.mit.edu	37	chr20	17462277	17462277	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgacactcacaaccgacgcCtgtgaggggaaggaaaattt	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17462277C>A	ENST00000262545.2	+	12	1794	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	PCSK2_ENST00000536609.1_Silent_p.A458A|PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	493					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAACCGACGCCTGTGAGGGGA	0.517																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1477-1479)gcC>gcA		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						122	114	117					20																	17462277		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462277C>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1479C>A	20.37:g.17462277C>A						PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.A474A|PCSK2_ENST00000536609.1_Silent_p.A458A	p.A493A	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			12	1794	+			493					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1479C>A	CCDS13125.1																																																																																				0.517	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		91	401	1	0	8.45761e-33	1	1.00019e-32	91	401					A	17462277	C	A	17462277	2	1	79	1	0	0	0	0	0	0	0	1	11643	668	24	3		3	PCSK2	20	17462277	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	732643	17462277	45563243	20036	30353											
RRBP1	6238	broad.mit.edu	37	chr20	17610570	17610570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgacctcgtccaggcGcttctgcagggcctcctcac	11	18	2	1	rs147114989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17610570G>A	ENST00000377813.1	-	9	2950	c.2647C>T	c.(2647-2649)Cgc>Tgc	p.R883C	RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C|RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	883					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						TCGTCCAGGCGCTTCTGCAGG	0.697																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(2647-2649)Cgc>Tgc		ribosome binding protein 1		G	CYS/ARG,CYS/ARG	0,4404		0,0,2202	22	23	23		1348,1348	2.2	1	20	dbSNP_134	23	1,8597		0,1,4298	no	missense,missense	RRBP1	NM_001042576.1,NM_004587.2	180,180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	450/978,450/978	17610570	1,13001	2202	4299	6501	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17610570G>A	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.2647C>T	20.37:g.17610570G>A	ENSP00000367044:p.Arg883Cys					RRBP1_ENST00000455029.2_Missense_Mutation_p.R224C|RRBP1_ENST00000360807.4_Missense_Mutation_p.R450C|RRBP1_ENST00000246043.4_Missense_Mutation_p.R883C|RRBP1_ENST00000377807.2_Missense_Mutation_p.R450C	p.R883C			Q9P2E9	RRBP1_HUMAN			9	2950	-			883					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2647C>T		.	.	.	.	.	.	.	.	.	.	G	16.90	3.251294	0.59212	0.0	1.16E-4	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.38	2.15	0.27550	.	0.000000	0.35936	N	0.002888	T	0.54382	0.1855	L	0.59436	1.845	0.58432	D	0.999991	D	0.89917	1.0	D	0.74674	0.984	T	0.55655	-0.8107	10	0.72032	D	0.01	-12.8453	8.4086	0.32629	0.0:0.1263:0.5658:0.3079	.	450	Q9P2E9-3	.	C	450;883;450;883;224	ENSP00000354045:R450C;ENSP00000367044:R883C;ENSP00000367038:R450C;ENSP00000246043:R883C;ENSP00000401206:R224C	ENSP00000246043:R883C	R	-	1	0	RRBP1	17558570	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.668000	0.37481	1.111000	0.41721	0.561000	0.74099	CGC		0.697	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		37	148	0	0	0	1	0	37	148					A	17610570	G	A	17610570	3	1	79	1	0	0	0	0	1	0	0	0	13728	1087	38	1	1653	1	RRBP1	20	17610570	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148293	17610570	45414950	20037	30354											
SNX5	27131	broad.mit.edu	37	chr20	17923780	17923780	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgttttatttccagttcagAcatttcaattagattctttc	4	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17923780A>C	ENST00000377768.3	-	13	1450	c.1138T>G	c.(1138-1140)Tct>Gct	p.S380A	SNX5_ENST00000377759.4_Missense_Mutation_p.S380A|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	380	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						TCCAGTTCAGACATTTCAATT	0.328																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(1138-1140)Tct>Gct		sorting nexin 5							167	183	177					20																	17923780		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17923780A>C	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.1138T>G	20.37:g.17923780A>C	ENSP00000366998:p.Ser380Ala					SNX5_ENST00000377759.4_Missense_Mutation_p.S380A|SNX5_ENST00000483485.1_5'UTR	p.S380A	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			13	1450	-			380			BAR.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.1138T>G	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	A	3.231	-0.157421	0.06544	.	.	ENSG00000089006	ENST00000377768;ENST00000377759	T;T	0.58060	0.36;0.36	5.49	5.49	0.81192	.	0.152923	0.64402	D	0.000014	T	0.11836	0.0288	N	0.00112	-2.095	0.35452	D	0.795741	B	0.02656	0.0	B	0.04013	0.001	T	0.37150	-0.9718	10	0.02654	T	1	-23.815	6.325	0.21239	0.6166:0.1465:0.0:0.2369	.	380	Q9Y5X3	SNX5_HUMAN	A	380	ENSP00000366998:S380A;ENSP00000366988:S380A	ENSP00000366988:S380A	S	-	1	0	SNX5	17871780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.365000	0.44196	2.207000	0.71202	0.533000	0.62120	TCT		0.328	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			211	994	0	0	0	1	0	211	994					C	17923780	A	C	17923780	3	2	79	1	0	0	0	0	1	0	0	0	14955	275	10	4	84	4	SNX5	20	17923780	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	313210	17923780	45101740	20038	30355											
SNX5	27131	broad.mit.edu	37	chr20	17934647	17934647	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccacttacgcttccaGttcttgtttcatcttggcaa	5	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17934647G>T	ENST00000377768.3	-	5	694	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	SNX5_ENST00000377759.4_Missense_Mutation_p.L128M|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	128	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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						TACGCTTCCAGTTCTTGTTTC	0.423																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(382-384)Ctg>Atg		sorting nexin 5							226	216	219					20																	17934647		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17934647G>T	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.382C>A	20.37:g.17934647G>T	ENSP00000366998:p.Leu128Met					SNX5_ENST00000377759.4_Missense_Mutation_p.L128M|SNX5_ENST00000483485.1_5'UTR	p.L128M	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			5	694	-			128			PX.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.382C>A	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744613	0.69418	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.39	2.41	0.29592	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.92691	3.335	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82506	-0.0423	10	0.66056	D	0.02	-18.7303	8.8107	0.34965	0.286:0.0:0.714:0.0	.	149;128	B7Z476;Q9Y5X3	.;SNX5_HUMAN	M	128;128;91;93	ENSP00000366998:L128M;ENSP00000366988:L128M;ENSP00000404448:L91M;ENSP00000406731:L93M	ENSP00000366988:L128M	L	-	1	2	SNX5	17882647	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	3.490000	0.53245	0.360000	0.24265	0.455000	0.32223	CTG		0.423	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			219	941	1	0	3.76961e-87	1	4.83455e-87	219	941					T	17934647	G	T	17934647	3	4	79	1	0	0	0	0	1	0	0	0	14955	1020	36	3	872	3	SNX5	20	17934647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10867	17934647	45090873	20039	30356											
CSRP2BP	57325	broad.mit.edu	37	chr20	18143582	18143582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggacttcagaatccttgaccGataccaggtgaatgcaagca	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18143582G>A	ENST00000435364.3	+	6	2005	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R554Q	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	555					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCTTGACCGATACCAGGTG	0.527																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(1663-1665)cGa>cAa		CSRP2 binding protein							46	42	43					20																	18143582		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18143582G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1664G>A	20.37:g.18143582G>A	ENSP00000392318:p.Arg555Gln					CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R427Q|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R554Q|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R555Q	p.R555Q			Q9H8E8	CSR2B_HUMAN			7	2314	+			555					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1664G>A	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263816	0.95399	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.23754	1.89;1.89;1.89;1.9	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	T	0.56135	-0.8029	10	0.72032	D	0.01	-18.9691	19.6614	0.95875	0.0:0.0:1.0:0.0	.	427;555	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	Q	555;554;555;427	ENSP00000278816:R555Q;ENSP00000366909:R554Q;ENSP00000392318:R555Q;ENSP00000425909:R427Q	ENSP00000278816:R555Q	R	+	2	0	CSRP2BP	18091582	1.000000	0.71417	0.987000	0.45799	0.928000	0.56348	9.060000	0.93907	2.633000	0.89246	0.655000	0.94253	CGA		0.527	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		19	140	0	0	0	1	0	19	140					A	18143582	G	A	18143582	3	1	79	1	0	0	0	0	1	0	0	0	3979	1058	37	1	1686	1	CSRP2BP	20	18143582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	208935	18143582	44881938	20040	30357											
CSRP2BP	57325	broad.mit.edu	37	chr20	18162409	18162409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccaccaagtttttgtatcGcttggtaggatcagaagata	10	7	1	2	rs535177493		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	ENST00000435364.3	+	7	2068	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R575H	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	576					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTTTGTATCGCTTGGTAGGA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19873	0.001		0.0	False		,,,				2504	0.0					ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(1726-1728)cGc>cAc		CSRP2 binding protein							143	136	138					20																	18162409		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18162409G>A	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1727G>A	20.37:g.18162409G>A	ENSP00000392318:p.Arg576His					CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R448H|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.R575H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.R576H	p.R576H			Q9H8E8	CSR2B_HUMAN			8	2377	+			576					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.1727G>A	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322696	0.95708	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.16897	2.31;2.31;2.31;2.32	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.42189	-0.9466	10	0.87932	D	0	-22.1899	19.3627	0.94446	0.0:0.0:1.0:0.0	.	448;576	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	H	576;575;576;448	ENSP00000278816:R576H;ENSP00000366909:R575H;ENSP00000392318:R576H;ENSP00000425909:R448H	ENSP00000278816:R576H	R	+	2	0	CSRP2BP	18110409	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.743000	0.91592	2.583000	0.87209	0.563000	0.77884	CGC		0.428	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		98	470	0	0	0	1	0	98	470					A	18162409	G	A	18162409	3	1	79	1	0	0	0	0	1	0	0	0	3979	1087	38	1	1753	1	CSRP2BP	20	18162409	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18827	18162409	44863111	20041	30358											
ZNF133	7692	broad.mit.edu	37	chr20	18296806	18296806	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacactggggagaagccGtatgtttgtggggtgtgtgg	17	6	0	1	rs541052064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18296806G>A	ENST00000316358.4	+	4	1408	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	ZNF133_ENST00000377671.3_Silent_p.P436P|ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000396026.3_Silent_p.P440P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000535822.1_Silent_p.P342P|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	437					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGGAGAAGCCGTATGTTTGTG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21372	0.001		0.0	False		,,,				2504	0.0					ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1306-1308)ccG>ccA		zinc finger protein 133							63	64	64					20																	18296806		2203	4300	6503	SO:0001819	synonymous_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296806G>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1311G>A	20.37:g.18296806G>A						ZNF133_ENST00000402618.2_Silent_p.P374P|ZNF133_ENST00000396026.3_Silent_p.P440P|ZNF133_ENST00000316358.4_Silent_p.P437P|ZNF133_ENST00000538547.1_Silent_p.P342P|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.P437P|ZNF133_ENST00000535822.1_Silent_p.P342P	p.P436P	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	1867	+			437					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37	c.1308G>A																																																																																					0.537	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		94	365	0	0	0	1	0	94	365					A	18296806	G	A	18296806	2	1	79	1	0	0	0	0	0	0	0	1	17776	1132	40	1		1	ZNF133	20	18296806	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134397	18296806	44728714	20042	30359											
ZNF133	7692	broad.mit.edu	37	chr20	18297040	18297040	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgcacaccagaggacGcactcaggggagaggccgta	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297040G>A	ENST00000316358.4	+	4	1642	c.1545G>A	c.(1543-1545)acG>acA	p.T515T	ZNF133_ENST00000377671.3_Silent_p.T514T|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000535822.1_Silent_p.T420T|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	515					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGGG	0.622																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1540-1542)acG>acA		zinc finger protein 133							70	71	71					20																	18297040		2203	4300	6503	SO:0001819	synonymous_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297040G>A	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1545G>A	20.37:g.18297040G>A						ZNF133_ENST00000402618.2_Silent_p.T452T|ZNF133_ENST00000396026.3_Silent_p.T518T|ZNF133_ENST00000316358.4_Silent_p.T515T|ZNF133_ENST00000538547.1_Silent_p.T420T|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.T515T|ZNF133_ENST00000535822.1_Silent_p.T420T	p.T514T	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	2101	+			515					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37	c.1542G>A																																																																																					0.622	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		49	358	0	0	0	1	0	49	358					A	18297040	G	A	18297040	2	1	79	1	0	0	0	0	0	0	0	1	17776	1074	38	1		1	ZNF133	20	18297040	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	234	18297040	44728480	20043	30360											
ZNF133	7692	broad.mit.edu	37	chr20	18297174	18297174	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgtggactgggctttgGcaataagtcagctctaatta	12	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297174G>T	ENST00000316358.4	+	4	1776	c.1679G>T	c.(1678-1680)gGc>gTc	p.G560V	ZNF133_ENST00000377671.3_Missense_Mutation_p.G559V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V|RP4-568F9.3_ENST00000436848.1_RNA	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	560					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CTGGGCTTTGGCAATAAGTCA	0.562																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1675-1677)gGc>gTc		zinc finger protein 133							104	86	92					20																	18297174		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297174G>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1679G>T	20.37:g.18297174G>T	ENSP00000346090:p.Gly560Val					ZNF133_ENST00000402618.2_Missense_Mutation_p.G497V|ZNF133_ENST00000396026.3_Missense_Mutation_p.G563V|ZNF133_ENST00000316358.4_Missense_Mutation_p.G560V|ZNF133_ENST00000538547.1_Missense_Mutation_p.G465V|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Missense_Mutation_p.G560V|ZNF133_ENST00000535822.1_Missense_Mutation_p.G465V	p.G559V	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	2235	+			560					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.1676G>T		.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287488	0.05605	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11	4.23	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.687394	0.13418	N	0.389409	T	0.25419	0.0618	N	0.20881	0.62	0.09310	N	0.999999	B;B;B;B	0.23540	0.087;0.039;0.064;0.052	B;B;B;B	0.32928	0.155;0.102;0.102;0.062	T	0.28332	-1.0047	10	0.20046	T	0.44	-4.9001	3.4811	0.07602	0.2924:0.0:0.5306:0.177	.	497;563;560;559	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	V	559;563;497;560;465;465;560	ENSP00000366899:G559V;ENSP00000400897:G563V;ENSP00000385279:G497V;ENSP00000383945:G560V;ENSP00000442978:G465V;ENSP00000439427:G465V;ENSP00000346090:G560V	ENSP00000346090:G560V	G	+	2	0	ZNF133	18245174	0.000000	0.05858	0.037000	0.18230	0.317000	0.28152	-0.640000	0.05440	0.309000	0.22966	0.655000	0.94253	GGC		0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		51	238	1	0	1.86633e-21	1	2.10207e-21	51	238					T	18297174	G	T	18297174	3	4	79	1	0	0	0	0	1	0	0	0	17776	1203	42	3	1686	3	ZNF133	20	18297174	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	134	18297174	44728346	20044	30361											
RBBP9	10741	broad.mit.edu	37	chr20	18471048	18471048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttggacttaccacttgcacGctcattttcatcccccaagt	5	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18471048G>A	ENST00000337227.4	-	4	400	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RBBP9_ENST00000493184.1_Intron	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	109					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CCACTTGCACGCTCATTTTCA	0.423																																						ENST00000337227.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						c.(325-327)Cgt>Tgt		retinoblastoma binding protein 9							160	144	150					20																	18471048		2203	4300	6503	SO:0001583	missense	10741					cytoplasm|nucleus	hydrolase activity	g.chr20:18471048G>A	AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"retinoblastoma-binding protein 9"			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.325C>T	20.37:g.18471048G>A	ENSP00000336866:p.Arg109Cys					RBBP9_ENST00000493184.1_Intron	p.R109C	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN			4	400	-			109					D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	37	c.325C>T	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799256	0.70567	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.96	3.02	0.34903	.	0.290145	0.27554	N	0.018852	T	0.63510	0.2517	M	0.80847	2.515	0.52099	D	0.999947	D	0.71674	0.998	P	0.52454	0.699	T	0.63580	-0.6605	9	0.54805	T	0.06	-0.1625	4.8294	0.13432	0.1751:0.0:0.6562:0.1687	.	109	O75884	RBBP9_HUMAN	C	109	.	ENSP00000336866:R109C	R	-	1	0	RBBP9	18419048	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.344000	0.44010	0.803000	0.34113	0.655000	0.94253	CGT		0.423	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606		60	248	0	0	0	1	0	60	248					A	18471048	G	A	18471048	3	1	79	1	0	0	0	0	1	0	0	0	13156	1087	38	1	243	1	RBBP9	20	18471048	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	173874	18471048	44554472	20045	30362											
SLC24A3	57419	broad.mit.edu	37	chr20	19698237	19698237	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctctgtttttgtcacGgtaggttggcagctctctcc	11	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	ENST00000328041.6	+	16	1982	c.1785G>A	c.(1783-1785)acG>acA	p.T595T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	595					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTTTGTCACGGTAGGTTGGC	0.522																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e16+1		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							237	229	231					20																	19698237		2203	4300	6503	SO:0001630	splice_region_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19698237G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1785+1G>A	20.37:g.19698237G>A							p.T595_splice	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN			16	1982	+			595					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Splice_Site	SNP	ENST00000328041.6	37	c.1785_splice	CCDS13140.1																																																																																				0.522	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689	Silent	249	1007	0	0	0	1	0	249	1007					A	19698237	G	A	19698237	5	1	79	1	0	0	0	0	0	0	1	0	14517	1130	39	1	1847	1	SLC24A3	20	19698237	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1227189	19698237	43327283	20046	30363											
CRNKL1	51340	broad.mit.edu	37	chr20	20016875	20016875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgacgtcctcatctggatgGtgctcagcatcctccttttc	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20016875G>A	ENST00000377340.2	-	15	2542	c.2511C>T	c.(2509-2511)caC>caT	p.H837H	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Silent_p.H676H|CRNKL1_ENST00000377327.4_Silent_p.H825H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	837					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						CATCTGGATGGTGCTCAGCAT	0.413																																						ENST00000377340.2																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(2509-2511)caC>caT		crooked neck pre-mRNA splicing factor 1							175	150	158					20																	20016875		2203	4300	6503	SO:0001819	synonymous_variant	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20016875G>A	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.2511C>T	20.37:g.20016875G>A						CRNKL1_ENST00000377327.4_Silent_p.H825H|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Silent_p.H676H	p.H837H	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN			15	2542	-			837					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	c.2511C>T	CCDS33446.1																																																																																				0.413	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			86	510	0	0	0	1	0	86	510					A	20016875	G	A	20016875	2	1	79	1	0	0	0	0	0	0	0	1	3900	1252	44	2		2	CRNKL1	20	20016875	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	318638	20016875	43008645	20047	30364											
C20orf26	26074	broad.mit.edu	37	chr20	20144736	20144736	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctccactggatatgcacagTatcaccatgtcagcagtagg	9	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20144736T>C	ENST00000245957.5	+	11	1145	c.1069T>C	c.(1069-1071)Tat>Cat	p.Y357H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		357										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)		ATATGCACAGTATCACCATGT	0.502																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1069-1071)Tat>Cat		chromosome 20 open reading frame 26							128	114	119					20																	20144736		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20144736T>C																												ENST00000245957.5:c.1069T>C	20.37:g.20144736T>C	ENSP00000245957:p.Tyr357His					C20orf26_ENST00000377306.1_Missense_Mutation_p.Y357H|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y357H|C20orf26_ENST00000377309.2_5'UTR	p.Y357H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	11	1145	+			357					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1069T>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	T	4.349	0.064258	0.08388	.	.	ENSG00000089101	ENST00000340348;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767	T;T;T	0.08458	3.09;3.09;3.09	5.36	0.968	0.19680	.	2.004040	0.02619	N	0.102998	T	0.05823	0.0152	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.27932	0.007;0.194;0.0;0.0	B;B;B;B	0.19148	0.001;0.024;0.0;0.0	T	0.32798	-0.9893	10	0.44086	T	0.13	.	1.2688	0.02016	0.2649:0.1475:0.4344:0.1532	.	357;357;312;357	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	H	312;357;357;357;357	ENSP00000245957:Y357H;ENSP00000366521:Y357H;ENSP00000414537:Y357H	ENSP00000245957:Y357H	Y	+	1	0	C20orf26	20092736	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.136000	0.15974	0.012000	0.14892	-0.132000	0.14878	TAT		0.502	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			40	348	0	0	0	1	0	40	348					C	20144736	T	C	20144736	3	2	79	1	0	0	0	0	1	0	0	0	2113	1638	57	4	1107	4	C20orf26	20	20144736	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	127861	20144736	42880784	20048	30365											
C20orf26	26074	broad.mit.edu	37	chr20	20180434	20180434	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccagaacccctacgcccactCcctgacatctgcccttcatt	4	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180434C>A	ENST00000245957.5	+	17	1896	c.1820C>A	c.(1819-1821)tCc>tAc	p.S607Y	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		607										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)		TACGCCCACTCCCTGACATCT	0.498																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1819-1821)tCc>tAc		chromosome 20 open reading frame 26							146	131	136					20																	20180434		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180434C>A																												ENST00000245957.5:c.1820C>A	20.37:g.20180434C>A	ENSP00000245957:p.Ser607Tyr					C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	p.S607Y	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1896	+			607					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1820C>A	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.445253|3.445253	0.63178|0.63178	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.48522	.|0.81	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.210965	.|0.42420	.|D	.|0.000702	T|T	0.68412|0.68412	0.2998|0.2998	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.76575	.|0.988;0.974	T|T	0.64015|0.64015	-0.6506|-0.6506	5|10	.|0.29301	.|T	.|0.29	.|.	19.4135|19.4135	0.94685|0.94685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|587;607	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	T|Y	147|547;175;587;607	.|ENSP00000245957:S607Y	.|ENSP00000245957:S607Y	P|S	+|+	1|2	0|0	C20orf26|C20orf26	20128434|20128434	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	3.428000|3.428000	0.52792|0.52792	2.584000|2.584000	0.87258|0.87258	0.563000|0.563000	0.77884|0.77884	CCC|TCC		0.498	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			159	665	1	0	5.60145e-70	1	7.11217e-70	159	665					A	20180434	C	A	20180434	3	1	79	1	0	0	0	0	1	0	0	0	2113	855	30	3	1914	3	C20orf26	20	20180434	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35698	20180434	42845086	20049	30366											
C20orf26	26074	broad.mit.edu	37	chr20	20180517	20180517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaaagcttggcataaacGctccatcaaaggcggtctcc	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180517G>A	ENST00000245957.5	+	17	1979	c.1903G>A	c.(1903-1905)Gct>Act	p.A635T	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		635										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)		TGGCATAAACGCTCCATCAAA	0.627																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1903-1905)Gct>Act		chromosome 20 open reading frame 26							124	113	117					20																	20180517		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20180517G>A																												ENST00000245957.5:c.1903G>A	20.37:g.20180517G>A	ENSP00000245957:p.Ala635Thr					C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	p.A635T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	17	1979	+			635					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1903G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270035	0.80469	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.23552	1.9	5.57	5.57	0.84162	.	0.157250	0.45867	D	0.000333	T	0.52403	0.1732	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.949	T	0.45011	-0.9290	10	0.40728	T	0.16	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	615;635	F8W6K4;Q8NHU2	.;CT026_HUMAN	T	575;203;615;635	ENSP00000245957:A635T	ENSP00000245957:A635T	A	+	1	0	C20orf26	20128517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.904000	0.69886	2.620000	0.88729	0.563000	0.77884	GCT		0.627	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			85	719	0	0	0	1	0	85	719					A	20180517	G	A	20180517	3	1	79	1	0	0	0	0	1	0	0	0	2113	1087	38	1	1997	1	C20orf26	20	20180517	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	83	20180517	42845003	20050	30367											
C20orf26	26074	broad.mit.edu	37	chr20	20269275	20269275	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcagcttctgtgagaAgaatgtggattatgaaacgt	11	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20269275A>C	ENST00000245957.5	+	23	2895	c.2819A>C	c.(2818-2820)aAg>aCg	p.K940T	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		940										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)		TTCTGTGAGAAGAATGTGGAT	0.403																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2818-2820)aAg>aCg		chromosome 20 open reading frame 26							189	182	185					20																	20269275		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20269275A>C																												ENST00000245957.5:c.2819A>C	20.37:g.20269275A>C	ENSP00000245957:p.Lys940Thr					C20orf26_ENST00000377309.2_Intron	p.K940T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	23	2895	+			940					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2819A>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729971	0.69074	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.12879	2.64	5.6	5.6	0.85130	.	0.051644	0.85682	D	0.000000	T	0.36166	0.0957	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.12477	-1.0546	10	0.72032	D	0.01	.	11.6781	0.51442	0.929:0.0:0.071:0.0	.	940	Q8NHU2	CT026_HUMAN	T	880;906;940	ENSP00000245957:K940T	ENSP00000245957:K940T	K	+	2	0	C20orf26	20217275	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.045000	0.64220	2.142000	0.66516	0.528000	0.53228	AAG		0.403	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			158	831	0	0	0	1	0	158	831					C	20269275	A	C	20269275	3	2	79	1	0	0	0	0	1	0	0	0	2113	72	3	4	2937	4	C20orf26	20	20269275	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	88758	20269275	42756245	20051	30368											
C20orf26	26074	broad.mit.edu	37	chr20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaaaaatgggacttacttccGaattcatattaacaagtata	6	6	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20278871G>A	ENST00000245957.5	+	25	3339	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1088								p.R1088Q(3)|p.R1088P(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)		ACTTACTTCCGAATTCATATT	0.458																																						ENST00000245957.5																			4	Substitution - Missense(4)	p.R1088Q(3)|p.R1088P(1)	large_intestine(3)|lung(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						c.(3262-3264)cGa>cAa		chromosome 20 open reading frame 26							78	75	76					20																	20278871		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20278871G>A																												ENST00000245957.5:c.3263G>A	20.37:g.20278871G>A	ENSP00000245957:p.Arg1088Gln					C20orf26_ENST00000377309.2_3'UTR	p.R1088Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3339	+			1088					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3263G>A	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678484	0.88542	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.47528	0.84	5.27	5.27	0.74061	.	0.300219	0.31922	N	0.006857	T	0.61211	0.2329	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.65784	-0.6084	10	0.62326	D	0.03	.	19.2438	0.93893	0.0:0.0:1.0:0.0	.	1088	Q8NHU2	CT026_HUMAN	Q	1028;1054;1088	ENSP00000245957:R1088Q	ENSP00000245957:R1088Q	R	+	2	0	C20orf26	20226871	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.069000	0.71209	2.628000	0.89032	0.655000	0.94253	CGA		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			58	231	0	0	0	1	0	58	231					A	20278871	G	A	20278871	3	1	79	1	0	0	0	0	1	0	0	0	2113	1058	37	1	3389	1	C20orf26	20	20278871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9596	20278871	42746649	20052	30369											
C20orf26	26074	broad.mit.edu	37	chr20	20279025	20279025	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaaacctgatcacagatctCtataggtgagttggacattg	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20279025C>T	ENST00000245957.5	+	25	3493	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1139										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)		TCACAGATCTCTATAGGTGAG	0.463																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3415-3417)ctC>ctT		chromosome 20 open reading frame 26							58	53	55					20																	20279025		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20279025C>T																												ENST00000245957.5:c.3417C>T	20.37:g.20279025C>T						C20orf26_ENST00000377309.2_3'UTR	p.L1139L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3493	+			1139					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.3417C>T	CCDS33447.1																																																																																				0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			25	118	0	0	0	1	0	25	118					T	20279025	C	T	20279025	2	4	79	1	0	0	0	0	0	0	0	1	2113	900	32	2		2	C20orf26	20	20279025	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154	20279025	42746495	20053	30370											
C20orf26	26074	broad.mit.edu	37	chr20	20340951	20340951	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaatacctcaaaagagtttTtgaggaatccatctacaaaa	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20340951T>G	ENST00000245957.5	+	27	3687	c.3611T>G	c.(3610-3612)tTt>tGt	p.F1204C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1204										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)		AAAAGAGTTTTTGAGGAATCC	0.488											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3610-3612)tTt>tGt		chromosome 20 open reading frame 26							154	158	157					20																	20340951		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20340951T>G																												ENST00000245957.5:c.3611T>G	20.37:g.20340951T>G	ENSP00000245957:p.Phe1204Cys		OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	740	C20orf26_ENST00000377309.2_3'UTR	p.F1204C	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	27	3687	+			1204					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.3611T>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	t	10.46	1.355205	0.24512	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.11385	2.78	5.39	4.27	0.50696	.	0.242001	0.29480	N	0.012021	T	0.19046	0.0457	L	0.40543	1.245	0.34156	D	0.668057	D	0.71674	0.998	P	0.58873	0.847	T	0.17899	-1.0354	10	0.59425	D	0.04	.	11.0362	0.47802	0.1397:0.0:0.0:0.8603	.	1204	Q8NHU2	CT026_HUMAN	C	1144;1170;1204	ENSP00000245957:F1204C	ENSP00000245957:F1204C	F	+	2	0	C20orf26	20288951	0.064000	0.20934	0.085000	0.20634	0.005000	0.04900	0.616000	0.24344	0.961000	0.38030	0.451000	0.29950	TTT		0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			190	742	0	0	0	1	0	190	742					G	20340951	T	G	20340951	3	3	79	1	0	0	0	0	1	0	0	0	2113	1841	64	4	3745	4	C20orf26	20	20340951	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	61926	20340951	42684569	20054	30371											
RALGAPA2	57186	broad.mit.edu	37	chr20	20517328	20517328	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcagttcctgtaatggccTcatttacttctggcactgac	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	ENST00000202677.7	-	25	3393	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1129					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						TGTAATGGCCTCATTTACTTC	0.428																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(3385-3387)gAg>gCg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							72	75	74					20																	20517328		1910	4129	6039	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20517328T>G	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.3386A>C	20.37:g.20517328T>G	ENSP00000202677:p.Glu1129Ala						p.E1129A	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			25	3528	-			1129					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.3386A>C	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	T	7.815	0.716597	0.15306	.	.	ENSG00000188559	ENST00000202677	D	0.94862	-3.54	5.63	3.17	0.36434	.	0.167881	0.52532	D	0.000075	D	0.86690	0.5993	N	0.25485	0.75	0.36334	D	0.85907	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80204	-0.1479	10	0.08837	T	0.75	.	8.4392	0.32805	0.0:0.0699:0.1307:0.7994	.	967;1129	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	A	1129	ENSP00000202677:E1129A	ENSP00000202677:E1129A	E	-	2	0	RALGAPA2	20465328	0.989000	0.36119	0.128000	0.21923	0.055000	0.15305	2.923000	0.48868	2.150000	0.67090	0.455000	0.32223	GAG		0.428	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		32	121	0	0	0	1	0	32	121					G	20517328	T	G	20517328	3	3	79	1	0	0	0	0	1	0	0	0	13064	1551	54	4	2295	4	RALGAPA2	20	20517328	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	176377	20517328	42508192	20055	30372											
RALGAPA2	57186	broad.mit.edu	37	chr20	20620538	20620538	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagtgatttcttctggatatAtctttactgaaaggacagaa	9	5	3	3	rs370779249		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	ENST00000202677.7	-	7	564	c.557T>C	c.(556-558)aTa>aCa	p.I186T		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	186					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						TTCTGGATATATCTTTACTGA	0.343																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(556-558)aTa>aCa		Ral GTPase activating protein, alpha subunit 2 (catalytic)		A	THR/ILE	0,3628		0,0,1814	97	90	92		557	5.7	1	20		92	1,8181		0,1,4090	no	missense	RALGAPA2	NM_020343.3	89	0,1,5904	GG,GA,AA		0.0122,0.0,0.0085	possibly-damaging	186/1874	20620538	1,11809	1814	4091	5905	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20620538A>G	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.557T>C	20.37:g.20620538A>G	ENSP00000202677:p.Ile186Thr						p.I186T	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			7	699	-			186					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.557T>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.27|14.27	2.484649|2.484649	0.44147|0.44147	0.0|0.0	1.22E-4|1.22E-4	ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000430436	T;T;T|.	0.77098|.	-1.07;-1.07;-1.07|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.144833|.	0.64402|.	D|.	0.000006|.	T|T	0.71617|0.71617	0.3361|0.3361	M|M	0.62723|0.62723	1.935|1.935	0.44780|0.44780	D|D	0.99778|0.99778	P|.	0.44627|.	0.839|.	B|.	0.33454|.	0.164|.	T|T	0.70615|0.70615	-0.4823|-0.4823	10|5	0.51188|.	T|.	0.08|.	.|.	15.6105|15.6105	0.76713|0.76713	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	186|.	Q2PPJ7|.	RGPA2_HUMAN|.	T|H	186;38;38;186|3	ENSP00000202677:I186T;ENSP00000400901:I38T;ENSP00000412795:I186T|.	ENSP00000202677:I186T|.	I|Y	-|-	2|1	0|0	RALGAPA2|RALGAPA2	20568538|20568538	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.501000|0.501000	0.33797|0.33797	8.502000|8.502000	0.90505|0.90505	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	ATA|TAT		0.343	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		90	375	0	0	0	1	0	90	375					G	20620538	A	G	20620538	3	3	79	1	0	0	0	0	1	0	0	0	13064	449	16	4	5196	4	RALGAPA2	20	20620538	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	103210	20620538	42404982	20056	30373											
PLK1S1	101929591	broad.mit.edu	37	chr20	21142511	21142511	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatctcttttggtgttgcaGgttgcagtgcacgaggggat	14	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142511G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TGGTGTTGCAGGTTGCAGTGC	0.408																																						ENST00000591761.1																			0																				59	53	55					20																	21142511		1895	4105	6000			0							g.chr20:21142511G>A																													20.37:g.21142511G>A						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.408	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			21	196	0	0	0	1	0	21	196					A	21142511	G	A	21142511	1	1	79	0	1	0	0	0	0	0	0	0	12137	1014	35	2		2	PLK1S1	20	21142511	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	521973	21142511	41883009	20057	30374											
PLK1S1	101929591	broad.mit.edu	37	chr20	21142621	21142621	+	RNA	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agccatcttaagcatgagagAtttcagtacagagcacaaat	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142621A>G	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AGCATGAGAGATTTCAGTACA	0.473																																						ENST00000591761.1																			0																				78	75	76					20																	21142621		1926	4123	6049			0							g.chr20:21142621A>G																													20.37:g.21142621A>G						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.473	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			50	224	0	0	0	1	0	50	224					G	21142621	A	G	21142621	1	3	79	0	1	0	0	0	0	0	0	0	12137	333	12	4		4	PLK1S1	20	21142621	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	110	21142621	41882899	20058	30375											
PLK1S1	101929591	broad.mit.edu	37	chr20	21142762	21142762	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taatgacacacagtgcttaaAtaagtctgacaacatagatg	7	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142762A>C	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							CAGTGCTTAAATAAGTCTGAC	0.433																																						ENST00000591761.1																			0																				67	68	68					20																	21142762		1975	4170	6145			0							g.chr20:21142762A>C																													20.37:g.21142762A>C						RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.433	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			49	219	0	0	0	1	0	49	219					C	21142762	A	C	21142762	1	2	79	0	1	0	0	0	0	0	0	0	12137	101	4	4		4	PLK1S1	20	21142762	RNA	SNP	A	TCGA-IB-7651-01A-11D-2154-08	141	21142762	41882758	20059	30376											
XRN2	22803	broad.mit.edu	37	chr20	21306927	21306927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatagccaaaagaatGcaatggtgtaaagattccag	8	8	1	2	rs373315919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21306927G>A	ENST00000377191.3	+	2	181	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	XRN2_ENST00000430571.2_Intron|XRN2_ENST00000539513.1_5'UTR	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	29					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAAAAGAATGCAATGGTGTA	0.343																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(85-87)tGc>tAc		5'-3' exoribonuclease 2		G	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	107	100	102		86	4.6	1	20		102	0,8600		0,0,4300	no	missense	XRN2	NM_012255.3	194	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	29/951	21306927	1,13005	2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21306927G>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.86G>A	20.37:g.21306927G>A	ENSP00000366396:p.Cys29Tyr					XRN2_ENST00000539513.1_5'UTR|XRN2_ENST00000430571.2_Intron	p.C29Y	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			2	181	+			29					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.86G>A	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	7.652	0.683201	0.14907	2.27E-4	0.0	ENSG00000088930	ENST00000377191	T	0.29397	1.57	5.62	4.64	0.57946	Putative 5-3 exonuclease (1);	0.042575	0.85682	D	0.000000	T	0.16128	0.0388	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.07616	-1.0763	10	0.09590	T	0.72	-12.7852	15.9854	0.80147	0.0:0.0:0.8651:0.1349	.	29	Q9H0D6	XRN2_HUMAN	Y	29	ENSP00000366396:C29Y	ENSP00000366396:C29Y	C	+	2	0	XRN2	21254927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.266000	0.65525	2.648000	0.89879	0.650000	0.86243	TGC		0.343	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		33	173	0	0	0	1	0	33	173					A	21306927	G	A	21306927	3	1	79	1	0	0	0	0	1	0	0	0	17514	1319	46	2	92	2	XRN2	20	21306927	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164165	21306927	41718593	20060	30377											
XRN2	22803	broad.mit.edu	37	chr20	21314400	21314400	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacatttgatgttgagaggaGcattgatgactgggttttca	12	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21314400G>T	ENST00000377191.3	+	11	1087	c.992G>T	c.(991-993)aGc>aTc	p.S331I	XRN2_ENST00000430571.2_Missense_Mutation_p.S255I|XRN2_ENST00000539513.1_Missense_Mutation_p.S277I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	331					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTTGAGAGGAGCATTGATGAC	0.418																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(991-993)aGc>aTc		5'-3' exoribonuclease 2							297	273	281					20																	21314400		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21314400G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.992G>T	20.37:g.21314400G>T	ENSP00000366396:p.Ser331Ile					XRN2_ENST00000539513.1_Missense_Mutation_p.S277I|XRN2_ENST00000430571.2_Missense_Mutation_p.S255I	p.S331I	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			11	1087	+			331					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.992G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009093	0.54361	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.25749	1.78;1.78;1.78	5.83	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	N	0.05199	-0.095	0.80722	D	1	B	0.25441	0.126	B	0.18561	0.022	T	0.12708	-1.0537	10	0.02654	T	1	-15.4121	11.5221	0.50558	0.0655:0.0:0.8104:0.1241	.	331	Q9H0D6	XRN2_HUMAN	I	331;255;277	ENSP00000366396:S331I;ENSP00000413548:S255I;ENSP00000441113:S277I	ENSP00000366396:S331I	S	+	2	0	XRN2	21262400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.982000	0.88131	1.456000	0.47831	0.655000	0.94253	AGC		0.418	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		260	1144	1	0	3.22634e-79	1	4.12331e-79	260	1144					T	21314400	G	T	21314400	3	4	79	1	0	0	0	0	1	0	0	0	17514	971	34	3	1034	3	XRN2	20	21314400	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7473	21314400	41711120	20061	30378											
XRN2	22803	broad.mit.edu	37	chr20	21346218	21346218	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttaaatggtcagaaagccaGcagcagtactgaaacctagt	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21346218G>T	ENST00000377191.3	+	26	2427	c.2332G>T	c.(2332-2334)Gca>Tca	p.A778S	XRN2_ENST00000430571.2_Missense_Mutation_p.A702S|XRN2_ENST00000539513.1_Missense_Mutation_p.A724S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	778					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGAAAGCCAGCAGCAGTACT	0.443																																						ENST00000377191.3																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2332-2334)Gca>Tca		5'-3' exoribonuclease 2							95	94	94					20																	21346218		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21346218G>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2332G>T	20.37:g.21346218G>T	ENSP00000366396:p.Ala778Ser					XRN2_ENST00000539513.1_Missense_Mutation_p.A724S|XRN2_ENST00000430571.2_Missense_Mutation_p.A702S	p.A778S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN			26	2427	+			778					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.2332G>T	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	9.842	1.191333	0.21954	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.17854	2.25;2.25;2.25	5.95	4.02	0.46733	.	0.315883	0.38837	N	0.001552	T	0.07999	0.0200	N	0.16903	0.455	0.26128	N	0.980453	B	0.02656	0.0	B	0.01281	0.0	T	0.38222	-0.9671	10	0.09084	T	0.74	-5.6952	5.5639	0.17160	0.1286:0.1125:0.6428:0.1161	.	778	Q9H0D6	XRN2_HUMAN	S	778;702;724	ENSP00000366396:A778S;ENSP00000413548:A702S;ENSP00000441113:A724S	ENSP00000366396:A778S	A	+	1	0	XRN2	21294218	0.996000	0.38824	0.998000	0.56505	0.486000	0.33341	0.564000	0.23563	0.867000	0.35654	-0.136000	0.14681	GCA		0.443	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		66	344	1	0	3.37205e-40	1	4.08638e-40	66	344					T	21346218	G	T	21346218	3	4	79	1	0	0	0	0	1	0	0	0	17514	971	34	3	2434	3	XRN2	20	21346218	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31818	21346218	41679302	20062	30379											
NKX2-4	644524	broad.mit.edu	37	chr20	21376850	21376850	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccctcctgctgcagcTgctgcgccgccttgtccttg	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21376850T>G	ENST00000351817.4	-	2	1392	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	255					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						CTGCTGCAGCTGCTGCGCCGC	0.701																																						ENST00000351817.4																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(763-765)cAg>cCg		NK2 homeobox 4							21	20	20					20																	21376850		2199	4300	6499	SO:0001583	missense	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21376850T>G		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.764A>C	20.37:g.21376850T>G	ENSP00000345147:p.Gln255Pro						p.Q255P	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN			2	1392	-			255					Q5VZV8	Missense_Mutation	SNP	ENST00000351817.4	37	c.764A>C	CCDS42855.1	.	.	.	.	.	.	.	.	.	.	T	14.31	2.497531	0.44455	.	.	ENSG00000125816	ENST00000351817	D	0.92099	-2.97	3.6	2.42	0.29668	.	0.000000	0.38663	U	0.001620	D	0.92028	0.7474	L	0.60455	1.87	0.47994	D	0.99956	D	0.53885	0.963	P	0.55785	0.784	D	0.88340	0.2974	10	0.30854	T	0.27	.	9.2714	0.37673	0.0:0.0:0.1828:0.8172	.	255	Q9H2Z4	NKX24_HUMAN	P	255	ENSP00000345147:Q255P	ENSP00000345147:Q255P	Q	-	2	0	NKX2-4	21324850	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.288000	0.78691	0.402000	0.25451	0.397000	0.26171	CAG		0.701	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2			15	59	0	0	0	1	0	15	59					G	21376850	T	G	21376850	3	3	79	1	0	0	0	0	1	0	0	0	10494	1580	55	4	304	4	NKX2-4	20	21376850	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30632	21376850	41648670	20063	30380											
NKX2-2	4821	broad.mit.edu	37	chr20	21492786	21492786	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcacggccacccggcgcggCgagggcaggggcgtcacctc	18	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21492786C>T	ENST00000377142.4	-	2	953	c.597G>A	c.(595-597)tcG>tcA	p.S199S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	199					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGGCGCGGCGAGGGCAGGG	0.672																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(595-597)tcG>tcA		NK2 homeobox 2							32	36	35					20																	21492786		2202	4299	6501	SO:0001819	synonymous_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492786C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.597G>A	20.37:g.21492786C>T						NKX2-2-AS1_ENST00000549659.1_RNA	p.S199S	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	953	-			199						Silent	SNP	ENST00000377142.4	37	c.597G>A	CCDS13145.1																																																																																				0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			30	250	0	0	0	1	0	30	250					T	21492786	C	T	21492786	2	4	79	1	0	0	0	0	0	0	0	1	10492	755	27	1		1	NKX2-2	20	21492786	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115936	21492786	41532734	20064	30381											
NKX2-2	4821	broad.mit.edu	37	chr20	21494152	21494152	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctctgcaccgcgtccagGgcgccctgccccagcggccc	13	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21494152G>A	ENST00000377142.4	-	1	512	c.156C>T	c.(154-156)gcC>gcT	p.A52A	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	52					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCGTCCAGGGCGCCCTGCC	0.687																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(154-156)gcC>gcT		NK2 homeobox 2							34	31	32					20																	21494152		2201	4299	6500	SO:0001819	synonymous_variant	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21494152G>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.156C>T	20.37:g.21494152G>A							p.A52A	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			1	512	-			52						Silent	SNP	ENST00000377142.4	37	c.156C>T	CCDS13145.1																																																																																				0.687	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			48	165	0	0	0	1	0	48	165					A	21494152	G	A	21494152	2	1	79	1	0	0	0	0	0	0	0	1	10492	1219	43	2		2	NKX2-2	20	21494152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1366	21494152	41531368	20065	30382											
SSTR4	6754	broad.mit.edu	37	chr20	23016359	23016359	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgctacgccaagatgaagaCggctaccaacatctacctgc	8	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016359C>T	ENST00000255008.3	+	1	303	c.239C>T	c.(238-240)aCg>aTg	p.T80M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	80					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)	p.T80M(1)		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)					AAGATGAAGACGGCTACCAAC	0.632																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			1	Substitution - Missense(1)	p.T80M(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(238-240)aCg>aTg		somatostatin receptor 4							128	135	133					20																	23016359		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016359C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.239C>T	20.37:g.23016359C>T	ENSP00000255008:p.Thr80Met					RP4-753D10.3_ENST00000440921.1_RNA	p.T80M	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	303	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		80					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.239C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223631	0.79576	.	.	ENSG00000132671	ENST00000255008	T	0.46819	0.86	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000005	T	0.74222	0.3688	M	0.92970	3.365	0.58432	D	0.999995	D	0.89917	1.0	D	0.79784	0.993	T	0.82368	-0.0492	10	0.87932	D	0	.	14.3291	0.66541	0.0:1.0:0.0:0.0	.	80	P31391	SSR4_HUMAN	M	80	ENSP00000255008:T80M	ENSP00000255008:T80M	T	+	2	0	SSTR4	22964359	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.256000	0.65468	1.811000	0.52892	0.561000	0.74099	ACG		0.632	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			166	802	0	0	0	1	0	166	802					T	23016359	C	T	23016359	3	4	79	1	0	0	0	0	1	0	0	0	15252	536	19	1	241	1	SSTR4	20	23016359	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1522207	23016359	40009161	20066	30383											
SSTR4	6754	broad.mit.edu	37	chr20	23016448	23016448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcgtcggccgccctgCgccactggcccttcggctcc	12	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016448C>T	ENST00000255008.3	+	1	392	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	110					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)					GGCCGCCCTGCGCCACTGGCC	0.642																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(328-330)Cgc>Tgc		somatostatin receptor 4							85	85	85					20																	23016448		2201	4297	6498	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016448C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.328C>T	20.37:g.23016448C>T	ENSP00000255008:p.Arg110Cys					RP4-753D10.3_ENST00000440921.1_RNA	p.R110C	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	392	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		110					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.328C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357829	0.61403	.	.	ENSG00000132671	ENST00000255008	T	0.20463	2.07	3.73	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.181706	0.36854	U	0.002378	T	0.39064	0.1064	M	0.76328	2.33	0.39071	D	0.96071	D	0.61697	0.99	P	0.61658	0.892	T	0.31530	-0.9940	10	0.51188	T	0.08	.	9.8498	0.41051	0.0:0.8954:0.0:0.1045	.	110	P31391	SSR4_HUMAN	C	110	ENSP00000255008:R110C	ENSP00000255008:R110C	R	+	1	0	SSTR4	22964448	0.663000	0.27448	0.988000	0.46212	0.966000	0.64601	1.491000	0.35583	0.765000	0.33221	0.561000	0.74099	CGC		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			90	765	0	0	0	1	0	90	765					T	23016448	C	T	23016448	3	4	79	1	0	0	0	0	1	0	0	0	15252	768	27	1	330	1	SSTR4	20	23016448	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89	23016448	40009072	20067	30384											
SSTR4	6754	broad.mit.edu	37	chr20	23016594	23016594	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgcggcgacctaccgGcggcccagcgtggccaagct	15	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016594G>A	ENST00000255008.3	+	1	538	c.474G>A	c.(472-474)cgG>cgA	p.R158R	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	158					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)					CGACCTACCGGCGGCCCAGCG	0.662																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(472-474)cgG>cgA		somatostatin receptor 4							44	49	47					20																	23016594		2198	4293	6491	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016594G>A		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.474G>A	20.37:g.23016594G>A						RP4-753D10.3_ENST00000440921.1_RNA	p.R158R	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	538	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		158					Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.474G>A	CCDS42856.1																																																																																				0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			106	418	0	0	0	1	0	106	418					A	23016594	G	A	23016594	2	1	79	1	0	0	0	0	0	0	0	1	15252	1190	42	2		2	SSTR4	20	23016594	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146	23016594	40008926	20068	30385											
SSTR4	6754	broad.mit.edu	37	chr20	23016650	23016650	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggcatccctgttggTcactctccccatcgccatct	9	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016650T>A	ENST00000255008.3	+	1	594	c.530T>A	c.(529-531)gTc>gAc	p.V177D	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	177					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)					TCCCTGTTGGTCACTCTCCCC	0.706																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(529-531)gTc>gAc		somatostatin receptor 4							48	54	52					20																	23016650		2195	4284	6479	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016650T>A		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.530T>A	20.37:g.23016650T>A	ENSP00000255008:p.Val177Asp					RP4-753D10.3_ENST00000440921.1_RNA	p.V177D	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	594	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		177					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.530T>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114789	0.56505	.	.	ENSG00000132671	ENST00000255008	T	0.74421	-0.84	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	D	0.87549	0.6205	M	0.91818	3.245	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89683	0.3892	10	0.87932	D	0	.	11.6214	0.51119	0.0:0.0:0.0:1.0	.	177	P31391	SSR4_HUMAN	D	177	ENSP00000255008:V177D	ENSP00000255008:V177D	V	+	2	0	SSTR4	22964650	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	4.361000	0.59461	1.603000	0.50134	0.533000	0.62120	GTC		0.706	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			107	445	0	0	0	1	0	107	445					A	23016650	T	A	23016650	3	1	79	1	0	0	0	0	1	0	0	0	15252	1667	58	5	532	5	SSTR4	20	23016650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	56	23016650	40008870	20069	30386											
THBD	7056	broad.mit.edu	37	chr20	23028870	23028870	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagccttcagggcactcacaGctagcctgggtgttggggtc	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028870G>T	ENST00000377103.2	-	1	1508	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	424	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GGCACTCACAGCTAGCCTGGG	0.627																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(1270-1272)agC>agA		thrombomodulin	Drotrecogin alfa(DB00055)						62	57	59					20																	23028870		2203	4300	6503	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23028870G>T		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.1272C>A	20.37:g.23028870G>T	ENSP00000366307:p.Ser424Arg						p.S424R	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1508	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		424			EGF-like 5.		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.1272C>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	0.863	-0.734723	0.03111	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80033	-1.33	4.82	0.818	0.18778	Epidermal growth factor-like (1);Thrombomodulin-like, EGF-like (1);	3.352840	0.01083	N	0.005028	T	0.67887	0.2941	L	0.40543	1.245	0.09310	N	0.999991	B	0.33755	0.424	B	0.23018	0.043	T	0.49753	-0.8906	10	0.13470	T	0.59	1.1772	4.183	0.10385	0.313:0.0:0.531:0.156	.	424	P07204	TRBM_HUMAN	R	424;406	ENSP00000366307:S424R	ENSP00000366307:S424R	S	-	3	2	THBD	22976870	0.015000	0.18098	0.003000	0.11579	0.004000	0.04260	0.108000	0.15396	-0.124000	0.11724	0.561000	0.74099	AGC		0.627	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			63	375	1	0	2.2129e-31	1	2.60483e-31	63	375					T	23028870	G	T	23028870	3	4	79	1	0	0	0	0	1	0	0	0	15904	962	34	3	459	3	THBD	20	23028870	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12220	23028870	39996650	20070	30387											
THBD	7056	broad.mit.edu	37	chr20	23028930	23028930	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtctggttgcaaaacatctgGcacctgtgcggctcgtgggg	15	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028930G>T	ENST00000377103.2	-	1	1448	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	404	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	AAAACATCTGGCACCTGTGCG	0.617																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(1210-1212)tgC>tgA		thrombomodulin	Drotrecogin alfa(DB00055)						57	55	55					20																	23028930		2203	4300	6503	SO:0001587	stop_gained	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23028930G>T		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.1212C>A	20.37:g.23028930G>T	ENSP00000366307:p.Cys404*						p.C404*	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1448	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		404			EGF-like 4.|EGF-like 5.		Q8IV29|Q9UC32	Nonsense_Mutation	SNP	ENST00000377103.2	37	c.1212C>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097120	0.97281	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	.	.	.	4.82	0.672	0.17935	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5519	10.665	0.45726	0.3007:0.0:0.6993:0.0	.	.	.	.	X	404;386	.	ENSP00000366307:C404X	C	-	3	2	THBD	22976930	0.014000	0.17966	0.743000	0.31040	0.578000	0.36192	0.062000	0.14389	-0.093000	0.12396	-1.134000	0.01955	TGC		0.617	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			81	403	1	0	4.00405e-42	1	4.87196e-42	81	403					T	23028930	G	T	23028930	4	4	79	1	0	0	0	0	0	1	0	0	15904	1195	42	3	519	3	THBD	20	23028930	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	23028930	39996590	20071	30388											
THBD	7056	broad.mit.edu	37	chr20	23029298	23029298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggactgcgtcgcggatgCggtgcaggagcgcccgtctg	18	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23029298C>T	ENST00000377103.2	-	1	1080	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	282					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)	GTCGCGGATGCGGTGCAGGAG	0.711																																						ENST00000377103.2																			0				endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7						c.(844-846)Gca>Aca		thrombomodulin	Drotrecogin alfa(DB00055)						14	14	14					20																	23029298		2177	4274	6451	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029298C>T		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.844G>A	20.37:g.23029298C>T	ENSP00000366307:p.Ala282Thr						p.A282T	NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN			1	1080	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		282					Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.844G>A	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	C	3.938	-0.014850	0.07681	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.87412	-2.25	4.97	-6.89	0.01660	.	20.087100	0.00951	N	0.002973	T	0.71434	0.3339	N	0.17248	0.465	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.58618	-0.7605	10	0.25751	T	0.34	0.825	2.2655	0.04077	0.1731:0.1485:0.3999:0.2785	.	282	P07204	TRBM_HUMAN	T	282;264	ENSP00000366307:A282T	ENSP00000366307:A282T	A	-	1	0	THBD	22977298	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.243000	0.02905	-0.791000	0.04486	0.449000	0.29647	GCA		0.711	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			5	88	0	0	0	1	0	5	88					T	23029298	C	T	23029298	3	4	79	1	0	0	0	0	1	0	0	0	15904	768	27	1	887	1	THBD	20	23029298	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	368	23029298	39996222	20072	30389											
CD93	22918	broad.mit.edu	37	chr20	23065886	23065886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtcccaggacgcacgtgGcccccccacgacatgggctg	15	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23065886G>A	ENST00000246006.4	-	1	1091	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGCACGTGGCCCCCCCACG	0.632																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(943-945)gCc>gTc		CD93 molecule							42	46	45					20																	23065886		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065886G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.944C>T	20.37:g.23065886G>A	ENSP00000246006:p.Ala315Val						p.A315V	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1091	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		315			EGF-like 2.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.944C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373803	0.24857	.	.	ENSG00000125810	ENST00000246006	D	0.88431	-2.38	5.42	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.115159	0.38778	N	0.001580	D	0.86665	0.5987	M	0.83483	2.645	0.09310	N	1	B	0.28760	0.221	B	0.22386	0.039	T	0.73757	-0.3882	10	0.17832	T	0.49	-22.1666	8.9853	0.35990	0.076:0.0:0.7781:0.1459	.	315	Q9NPY3	C1QR1_HUMAN	V	315	ENSP00000246006:A315V	ENSP00000246006:A315V	A	-	2	0	CD93	23013886	0.009000	0.17119	0.024000	0.17045	0.049000	0.14656	1.116000	0.31221	1.386000	0.46466	0.650000	0.86243	GCC		0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		79	401	0	0	0	1	0	79	401					A	23065886	G	A	23065886	3	1	79	1	0	0	0	0	1	0	0	0	3056	1203	42	2	1022	2	CD93	20	23065886	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36588	23065886	39959634	20073	30390											
CD93	22918	broad.mit.edu	37	chr20	23066450	23066450	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccggagctccttgtgccagTtagagtaaggcgtgtcctcc	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066450T>C	ENST00000246006.4	-	1	527	c.380A>G	c.(379-381)aAc>aGc	p.N127S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	127	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)			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)					CTTGTGCCAGTTAGAGTAAGG	0.642																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(379-381)aAc>aGc		CD93 molecule							23	27	26					20																	23066450		2202	4298	6500	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066450T>C	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.380A>G	20.37:g.23066450T>C	ENSP00000246006:p.Asn127Ser						p.N127S	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	527	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		127			C-type lectin.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.380A>G	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598365	0.66332	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.20463	2.07	5.49	5.49	0.81192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.184763	0.37857	N	0.001901	T	0.42517	0.1206	M	0.64080	1.96	0.42882	D	0.994172	D	0.89917	1.0	D	0.76071	0.987	T	0.34179	-0.9839	10	0.66056	D	0.02	-56.0508	12.2766	0.54739	0.0:0.0:0.1411:0.8589	.	127	Q9NPY3	C1QR1_HUMAN	S	127	ENSP00000246006:N127S	ENSP00000246006:N127S	N	-	2	0	CD93	23014450	1.000000	0.71417	0.994000	0.49952	0.702000	0.40608	1.684000	0.37649	2.194000	0.70268	0.533000	0.62120	AAC		0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		18	97	0	0	0	1	0	18	97					C	23066450	T	C	23066450	3	2	79	1	0	0	0	0	1	0	0	0	3056	1725	60	4	1586	4	CD93	20	23066450	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	564	23066450	39959070	20074	30391											
CD93	22918	broad.mit.edu	37	chr20	23066551	23066551	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctcgctggagcccaatccaGaacttgctcatcctcgccgt	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066551G>A	ENST00000246006.4	-	1	426	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	93	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)			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)					GCCCAATCCAGAACTTGCTCA	0.647																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(277-279)ttC>ttT		CD93 molecule							39	30	33					20																	23066551		2203	4298	6501	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066551G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.279C>T	20.37:g.23066551G>A							p.F93F	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	426	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		93			C-type lectin.		O00274	Silent	SNP	ENST00000246006.4	37	c.279C>T	CCDS13149.1																																																																																				0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		14	60	0	0	0	1	0	14	60					A	23066551	G	A	23066551	2	1	79	1	0	0	0	0	0	0	0	1	3056	933	33	2		2	CD93	20	23066551	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101	23066551	39958969	20075	30392											
CD93	22918	broad.mit.edu	37	chr20	23066662	23066662	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagtggccaggttgcccccGttctggttgcagtggttctg	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066662G>A	ENST00000246006.4	-	1	315	c.168C>T	c.(166-168)aaC>aaT	p.N56N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	56	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)			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)					GGTTGCCCCCGTTCTGGTTGC	0.687																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(166-168)aaC>aaT		CD93 molecule							38	31	33					20																	23066662		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066662G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.168C>T	20.37:g.23066662G>A							p.N56N	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	315	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		56			C-type lectin.		O00274	Silent	SNP	ENST00000246006.4	37	c.168C>T	CCDS13149.1																																																																																				0.687	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		15	86	0	0	0	1	0	15	86					A	23066662	G	A	23066662	2	1	79	1	0	0	0	0	0	0	0	1	3056	1136	40	1		1	CD93	20	23066662	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111	23066662	39958858	20076	30393											
NXT1	29107	broad.mit.edu	37	chr20	23335079	23335079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgcaagtgactgcttccGcttccaggactgggccagct	12	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23335079G>A	ENST00000254998.2	+	2	788	c.401G>A	c.(400-402)cGc>cAc	p.R134H	RP3-322G13.7_ENST00000442884.1_RNA|RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|AL096677.1_ENST00000596205.1_5'Flank	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	134	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTGCTTCCGCTTCCAGGAC	0.542																																						ENST00000254998.2																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(400-402)cGc>cAc		NTF2-like export factor 1							41	39	40					20																	23335079		2203	4300	6503	SO:0001583	missense	29107					cytoplasm|nuclear pore		g.chr20:23335079G>A	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.401G>A	20.37:g.23335079G>A	ENSP00000254998:p.Arg134His						p.R134H	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN			2	788	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		134			NTF2.			Missense_Mutation	SNP	ENST00000254998.2	37	c.401G>A	CCDS13150.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105331	0.77096	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.22	2.17	0.27698	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.116909	0.56097	D	0.000030	T	0.81004	0.4733	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79876	-0.1618	9	0.87932	D	0	.	6.9031	0.24293	0.1619:0.1449:0.6931:0.0	.	134	Q9UKK6	NXT1_HUMAN	H	134	.	ENSP00000254998:R134H	R	+	2	0	NXT1	23283079	1.000000	0.71417	0.940000	0.37924	0.968000	0.65278	9.069000	0.93967	0.438000	0.26450	0.655000	0.94253	CGC		0.542	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078313.2	NM_013248		44	179	0	0	0	1	0	44	179					A	23335079	G	A	23335079	3	1	79	1	0	0	0	0	1	0	0	0	10836	1087	38	1	403	1	NXT1	20	23335079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	268417	23335079	39690441	20077	30394											
GZF1	64412	broad.mit.edu	37	chr20	23345726	23345726	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggtctttgtggagatcCctaaaaagaaatatacgaga	11	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23345726C>T	ENST00000338121.5	+	2	783	c.706C>T	c.(706-708)Cct>Tct	p.P236S	GZF1_ENST00000377051.2_Missense_Mutation_p.P236S|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	236					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)					TGTGGAGATCCCTAAAAAGAA	0.507																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(706-708)Cct>Tct		GDNF-inducible zinc finger protein 1							41	48	46					20																	23345726		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345726C>T	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.706C>T	20.37:g.23345726C>T	ENSP00000338290:p.Pro236Ser					GZF1_ENST00000377051.2_Missense_Mutation_p.P236S|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron	p.P236S			Q9H116	GZF1_HUMAN			2	783	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		236					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.706C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450553	0.43531	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09538	2.97;2.97	4.02	4.02	0.46733	.	0.000000	0.56097	D	0.000024	T	0.20577	0.0495	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.04961	-1.0915	10	0.11182	T	0.66	.	15.6958	0.77494	0.0:1.0:0.0:0.0	.	236	Q9H116	GZF1_HUMAN	S	236	ENSP00000338290:P236S;ENSP00000366250:P236S	ENSP00000338290:P236S	P	+	1	0	GZF1	23293726	0.549000	0.26481	1.000000	0.80357	0.383000	0.30230	3.029000	0.49712	2.245000	0.73994	0.544000	0.68410	CCT		0.507	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		54	243	0	0	0	1	0	54	243					T	23345726	C	T	23345726	3	4	79	1	0	0	0	0	1	0	0	0	6944	623	22	2	708	2	GZF1	20	23345726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10647	23345726	39679794	20078	30395											
GZF1	64412	broad.mit.edu	37	chr20	23346039	23346039	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacagcaagcaccgccAcggcgtggccaccgaggtgg	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23346039A>G	ENST00000338121.5	+	2	1096	c.1019A>G	c.(1018-1020)cAc>cGc	p.H340R	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	340					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)					AAGCACCGCCACGGCGTGGCC	0.592																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1018-1020)cAc>cGc		GDNF-inducible zinc finger protein 1							66	69	68					20																	23346039		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23346039A>G	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.1019A>G	20.37:g.23346039A>G	ENSP00000338290:p.His340Arg					GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.H340R|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron	p.H340R			Q9H116	GZF1_HUMAN			2	1096	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		340					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1019A>G	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	8.724	0.914995	0.17907	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.28895	1.59;1.59	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000006	T	0.22244	0.0536	N	0.22421	0.69	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.05784	-1.0864	10	0.59425	D	0.04	.	12.808	0.57624	1.0:0.0:0.0:0.0	.	340	Q9H116	GZF1_HUMAN	R	340	ENSP00000338290:H340R;ENSP00000366250:H340R	ENSP00000338290:H340R	H	+	2	0	GZF1	23294039	1.000000	0.71417	0.536000	0.28039	0.013000	0.08279	9.087000	0.94110	1.879000	0.54435	0.455000	0.32223	CAC		0.592	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		106	594	0	0	0	1	0	106	594					G	23346039	A	G	23346039	3	3	79	1	0	0	0	0	1	0	0	0	6944	159	6	4	1021	4	GZF1	20	23346039	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	313	23346039	39679481	20079	30396											
GZF1	64412	broad.mit.edu	37	chr20	23350348	23350348	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcggacggacattcacCgacaagtccactcttcggcg	12	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350348C>T	ENST00000338121.5	+	5	1832	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GZF1_ENST00000377051.2_Silent_p.T585T|GZF1_ENST00000542987.1_Silent_p.T94T|GZF1_ENST00000544236.1_Silent_p.T109T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	585					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)					GGACATTCACCGACAAGTCCA	0.572																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1753-1755)acC>acT		GDNF-inducible zinc finger protein 1							99	79	86					20																	23350348		2203	4300	6503	SO:0001819	synonymous_variant	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350348C>T	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.1755C>T	20.37:g.23350348C>T						GZF1_ENST00000377051.2_Silent_p.T585T|GZF1_ENST00000544236.1_Silent_p.T109T|GZF1_ENST00000542987.1_Silent_p.T94T	p.T585T			Q9H116	GZF1_HUMAN			5	1832	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		585					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	c.1755C>T	CCDS13151.1																																																																																				0.572	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		75	356	0	0	0	1	0	75	356					T	23350348	C	T	23350348	2	4	79	1	0	0	0	0	0	0	0	1	6944	639	23	1		1	GZF1	20	23350348	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4309	23350348	39675172	20080	30397											
GZF1	64412	broad.mit.edu	37	chr20	23350364	23350364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcaccgacaagtccactcttCggcggcacacctcagtaagc	8	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350364C>T	ENST00000338121.5	+	5	1848	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GZF1_ENST00000377051.2_Missense_Mutation_p.R591W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W|GZF1_ENST00000544236.1_Missense_Mutation_p.R115W			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	591					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)					GTCCACTCTTCGGCGGCACAC	0.562																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1771-1773)Cgg>Tgg		GDNF-inducible zinc finger protein 1							86	68	74					20																	23350364		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350364C>T	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.1771C>T	20.37:g.23350364C>T	ENSP00000338290:p.Arg591Trp					GZF1_ENST00000377051.2_Missense_Mutation_p.R591W|GZF1_ENST00000544236.1_Missense_Mutation_p.R115W|GZF1_ENST00000542987.1_Missense_Mutation_p.R100W	p.R591W			Q9H116	GZF1_HUMAN			5	1848	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		591					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1771C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869343	0.91587	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.35973	3.16;1.28;3.16;1.28	5.95	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000097	T	0.58119	0.2100	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57763	-0.7755	10	0.37606	T	0.19	.	15.7072	0.77592	0.1377:0.8623:0.0:0.0	.	591	Q9H116	GZF1_HUMAN	W	115;591;100;591	ENSP00000445458:R115W;ENSP00000338290:R591W;ENSP00000445118:R100W;ENSP00000366250:R591W	ENSP00000338290:R591W	R	+	1	2	GZF1	23298364	0.988000	0.35896	0.996000	0.52242	0.969000	0.65631	4.887000	0.63156	1.507000	0.48752	0.655000	0.94253	CGG		0.562	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		66	308	0	0	0	1	0	66	308					T	23350364	C	T	23350364	3	4	79	1	0	0	0	0	1	0	0	0	6944	875	31	1	1785	1	GZF1	20	23350364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16	23350364	39675156	20081	30398											
GZF1	64412	broad.mit.edu	37	chr20	23350738	23350738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taacttatagatacacgataAgaatactccatggaagtctt	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350738A>C	ENST00000338121.5	+	6	1873	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	GZF1_ENST00000377051.2_Missense_Mutation_p.K599T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T|GZF1_ENST00000544236.1_Missense_Mutation_p.K123T			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	599					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)					ATACACGATAAGAATACTCCA	0.403																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1795-1797)aAg>aCg		GDNF-inducible zinc finger protein 1							50	50	50					20																	23350738		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350738A>C	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1796A>C	20.37:g.23350738A>C	ENSP00000338290:p.Lys599Thr					GZF1_ENST00000377051.2_Missense_Mutation_p.K599T|GZF1_ENST00000544236.1_Missense_Mutation_p.K123T|GZF1_ENST00000542987.1_Missense_Mutation_p.K108T	p.K599T			Q9H116	GZF1_HUMAN			6	1873	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		599					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1796A>C	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671775	0.67928	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.11385	3.2;2.78;3.2;2.78	5.92	5.92	0.95590	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.23330	0.0564	L	0.28740	0.885	0.51012	D	0.999908	D	0.89917	1.0	D	0.85130	0.997	T	0.01074	-1.1460	10	0.72032	D	0.01	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	599	Q9H116	GZF1_HUMAN	T	123;599;108;599	ENSP00000445458:K123T;ENSP00000338290:K599T;ENSP00000445118:K108T;ENSP00000366250:K599T	ENSP00000338290:K599T	K	+	2	0	GZF1	23298738	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.209000	0.58493	2.263000	0.75096	0.533000	0.62120	AAG		0.403	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		42	165	0	0	0	1	0	42	165					C	23350738	A	C	23350738	3	2	79	1	0	0	0	0	1	0	0	0	6944	72	3	4	1814	4	GZF1	20	23350738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	374	23350738	39674782	20082	30399											
CST11	140880	broad.mit.edu	37	chr20	23433311	23433311	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgatccactgcaagctGtccttcgcatagttttctac	8	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23433311G>A	ENST00000377009.3	-	1	171	c.138C>T	c.(136-138)gaC>gaT	p.D46D	CST11_ENST00000377007.3_Silent_p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3																			0				kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(136-138)gaC>gaT		cystatin 11							211	184	193					20																	23433311		2203	4300	6503	SO:0001819	synonymous_variant	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433311G>A	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>T	20.37:g.23433311G>A						CST11_ENST00000377007.3_Silent_p.D46D	p.D46D	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN			1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		46					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Silent	SNP	ENST00000377009.3	37	c.138C>T	CCDS13155.1																																																																																				0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		172	658	0	0	0	1	0	172	658					A	23433311	G	A	23433311	2	1	79	1	0	0	0	0	0	0	0	1	3982	1368	48	2		2	CST11	20	23433311	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82573	23433311	39592209	20083	30400											
CST9L	128821	broad.mit.edu	37	chr20	23548955	23548955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactgtggcagggaggtaacGagccatgacattgtgttcat	13	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23548955G>A	ENST00000376979.3	-	1	431	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	45						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGAGGTAACGAGCCATGACA	0.522																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(133-135)Cgt>Tgt		cystatin 9-like							153	120	131					20																	23548955		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23548955G>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.133C>T	20.37:g.23548955G>A	ENSP00000366178:p.Arg45Cys						p.R45C	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			1	431	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		45					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.133C>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925552	0.52759	.	.	ENSG00000101435	ENST00000376979	T	0.12984	2.63	1.75	-3.11	0.05299	Proteinase inhibitor I25, cystatin (1);	12.943200	0.00166	N	0.000000	T	0.17492	0.0420	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.56088	0.791	T	0.18023	-1.0350	10	0.59425	D	0.04	.	4.0382	0.09740	0.0:0.2234:0.3274:0.4491	.	45	Q9H4G1	CST9L_HUMAN	C	45	ENSP00000366178:R45C	ENSP00000366178:R45C	R	-	1	0	CST9L	23496955	0.000000	0.05858	0.000000	0.03702	0.762000	0.43233	-3.436000	0.00471	-0.674000	0.05253	0.313000	0.20887	CGT		0.522	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		26	222	0	0	0	1	0	26	222					A	23548955	G	A	23548955	3	1	79	1	0	0	0	0	1	0	0	0	3991	1058	37	1	322	1	CST9L	20	23548955	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	115644	23548955	39476565	20084	30401											
CST9L	128821	broad.mit.edu	37	chr20	23549084	23549084	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccttccacggcaggcccaGcatggtgctgactgtaggca	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23549084G>T	ENST00000376979.3	-	1	302	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	2						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCAGGCCCAGCATGGTGCTG	0.577																																						ENST00000376979.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4-6)Ctg>Atg		cystatin 9-like							58	55	56					20																	23549084		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23549084G>T		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"cystatin 9 (mouse)-like"			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.4C>A	20.37:g.23549084G>T	ENSP00000366178:p.Leu2Met						p.L2M	NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN			1	302	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		2					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.4C>A	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	G	8.927	0.962408	0.18583	.	.	ENSG00000101435	ENST00000376979	T	0.14516	2.5	1.94	-3.45	0.04781	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.40440	-0.9563	9	0.21014	T	0.42	.	2.7249	0.05211	0.4778:0.0:0.3052:0.217	.	2	Q9H4G1	CST9L_HUMAN	M	2	ENSP00000366178:L2M	ENSP00000366178:L2M	L	-	1	2	CST9L	23497084	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-1.321000	0.02697	-0.956000	0.03631	0.313000	0.20887	CTG		0.577	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		9	117	1	0	3.09899e-07	1	3.21319e-07	9	117					T	23549084	G	T	23549084	3	4	79	1	0	0	0	0	1	0	0	0	3991	962	34	3	451	3	CST9L	20	23549084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129	23549084	39476436	20085	30402											
CST3	1471	broad.mit.edu	37	chr20	23614613	23614613	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccctgccaaggcacagcgtaGatctggaaagagcagaatgc	12	11	1	3	rs1135147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23614613G>T	ENST00000398411.1	-	3	463	c.381C>A	c.(379-381)atC>atA	p.I127I	CST3_ENST00000376925.3_Silent_p.I127I|CST3_ENST00000398409.1_Silent_p.I127I|RP11-218C14.8_ENST00000602977.1_lincRNA			P01034	CYTC_HUMAN	cystatin C	127					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACAGCGTAGATCTGGAAAG	0.532																																						ENST00000398411.1																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(379-381)atC>atA		cystatin C							158	122	134					20																	23614613		2203	4300	6503	SO:0001819	synonymous_variant	1471				defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly	extracellular space	beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding	g.chr20:23614613G>T		CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"cystatin C (amyloid angiopathy and cerebral hemorrhage)"			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.381C>A	20.37:g.23614613G>T						CST3_ENST00000376925.3_Silent_p.I127I|CST3_ENST00000398409.1_Silent_p.I127I	p.I127I			P01034	CYTC_HUMAN			3	463	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		127					B2R5J9|D3DW42|Q6FGW9	Silent	SNP	ENST00000398411.1	37	c.381C>A	CCDS13158.1																																																																																				0.532	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256831.1	NM_000099		9	282	1	0	0.000442599	1	0.000448314	9	282					T	23614613	G	T	23614613	2	4	79	1	0	0	0	0	0	0	0	1	3984	932	33	3		3	CST3	20	23614613	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65529	23614613	39410907	20086	30403											
CST2	1470	broad.mit.edu	37	chr20	23807102	23807102	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagcacccgcagcaggcGtctgtagtactcatcttcag	10	13	4	0	rs112783512	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807102G>A	ENST00000304725.2	-	1	266	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	66					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CGCAGCAGGCGTCTGTAGTAC	0.557																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2																			0				breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						c.(196-198)Cgc>Tgc		cystatin SA		G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	105	85	92		196	0.9	0	20	dbSNP_132	92	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CST2	NM_001322.2	180	0,6,6497	AA,AG,GG		0.0349,0.0681,0.0461	possibly-damaging	66/142	23807102	6,13000	2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23807102G>A	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.196C>T	20.37:g.23807102G>A	ENSP00000307540:p.Arg66Cys						p.R66C	NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN			1	266	-			66					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.196C>T	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165527	0.21538	6.81E-4	3.49E-4	ENSG00000170369	ENST00000304725	T	0.28255	1.62	2.0	0.943	0.19531	Proteinase inhibitor I25, cystatin (2);	0.376195	0.24379	N	0.039032	T	0.43233	0.1238	M	0.91612	3.225	0.09310	N	0.999999	P	0.40211	0.707	P	0.45119	0.47	T	0.39800	-0.9596	10	0.62326	D	0.03	.	5.7627	0.18209	0.0:0.0:0.6868:0.3132	.	66	P09228	CYTT_HUMAN	C	66	ENSP00000307540:R66C	ENSP00000307540:R66C	R	-	1	0	CST2	23755102	0.154000	0.22792	0.011000	0.14972	0.041000	0.13682	0.699000	0.25586	0.135000	0.18707	0.298000	0.19748	CGC		0.557	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			43	220	0	0	0	1	0	43	220					A	23807102	G	A	23807102	3	1	79	1	0	0	0	0	1	0	0	0	3983	1145	40	1	241	1	CST2	20	23807102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	192489	23807102	39218418	20087	30404											
CST2	1470	broad.mit.edu	37	chr20	23807128	23807128	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtactcatcttcagtggccTtgttatactcgctgatgaca	8	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807128T>C	ENST00000304725.2	-	1	240	c.170A>G	c.(169-171)aAg>aGg	p.K57R		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	57					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TTCAGTGGCCTTGTTATACTC	0.572																																					Pancreas(193;496 3017 22514 29918)	ENST00000304725.2																			0				breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						c.(169-171)aAg>aGg		cystatin SA							134	107	116					20																	23807128		2203	4300	6503	SO:0001583	missense	1470					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23807128T>C	M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.170A>G	20.37:g.23807128T>C	ENSP00000307540:p.Lys57Arg						p.K57R	NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN			1	240	-			57					Q9UCQ7	Missense_Mutation	SNP	ENST00000304725.2	37	c.170A>G	CCDS13161.1	.	.	.	.	.	.	.	.	.	.	T	5.075	0.199532	0.09652	.	.	ENSG00000170369	ENST00000304725	T	0.14640	2.49	1.88	1.88	0.25563	Proteinase inhibitor I25, cystatin (2);	0.552916	0.18943	N	0.126892	T	0.14485	0.0350	M	0.62723	1.935	0.09310	N	1	B	0.18863	0.031	B	0.30855	0.121	T	0.19745	-1.0296	10	0.31617	T	0.26	.	5.7205	0.17985	0.0:0.0:0.0:1.0	.	57	P09228	CYTT_HUMAN	R	57	ENSP00000307540:K57R	ENSP00000307540:K57R	K	-	2	0	CST2	23755128	0.097000	0.21791	0.004000	0.12327	0.024000	0.10985	0.474000	0.22148	0.858000	0.35431	0.248000	0.18094	AAG		0.572	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078352.2			27	291	0	0	0	1	0	27	291					C	23807128	T	C	23807128	3	2	79	1	0	0	0	0	1	0	0	0	3983	1609	56	4	267	4	CST2	20	23807128	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26	23807128	39218392	20088	30405											
TMEM90B	79953	broad.mit.edu	37	chr20	24523786	24523786	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcacagtaaaatcagtgAtgctggcaagaggaatggtt	14	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24523786A>G	ENST00000376862.3	+	2	686	c.53A>G	c.(52-54)gAt>gGt	p.D18G		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	18					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						AAAATCAGTGATGCTGGCAAG	0.527																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(52-54)gAt>gGt		synapse differentiation inducing 1							90	88	89					20																	24523786		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523786A>G	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.53A>G	20.37:g.24523786A>G	ENSP00000366058:p.Asp18Gly						p.D18G	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	686	+			18					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.53A>G	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047423	0.55110	.	.	ENSG00000101463	ENST00000376862	D	0.91740	-2.9	5.72	5.72	0.89469	.	0.204676	0.40728	N	0.001033	D	0.87099	0.6093	N	0.22421	0.69	0.58432	D	0.999995	B	0.29531	0.247	B	0.33392	0.163	D	0.86189	0.1611	10	0.87932	D	0	-22.5997	12.3979	0.55395	1.0:0.0:0.0:0.0	.	18	Q9H7V2	SYNG1_HUMAN	G	18	ENSP00000366058:D18G	ENSP00000366058:D18G	D	+	2	0	SYNDIG1	24471786	1.000000	0.71417	0.309000	0.25155	0.865000	0.49528	5.644000	0.67902	2.185000	0.69588	0.533000	0.62120	GAT		0.527	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		96	429	0	0	0	1	0	96	429					G	24523786	A	G	24523786	3	3	79	1	0	0	0	0	1	0	0	0	16271	333	12	4	55	4	TMEM90B	20	24523786	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	716658	24523786	38501734	20089	30406											
CST7	8530	broad.mit.edu	37	chr20	24940294	24940294	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgagctgctactctgaagtCtgggtcgtgccctggctcca	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24940294C>T	ENST00000480798.1	+	4	660	c.384C>T	c.(382-384)gtC>gtT	p.V128V	CST7_ENST00000376835.2_Silent_p.V150V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	128					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						ACTCTGAAGTCTGGGTCGTGC	0.597																																						ENST00000480798.1																			0				large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(382-384)gtC>gtT		cystatin F (leukocystatin)							122	113	116					20																	24940294		2203	4300	6503	SO:0001819	synonymous_variant	8530				immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:24940294C>T	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.384C>T	20.37:g.24940294C>T						CST7_ENST00000376835.2_Silent_p.V150V	p.V128V	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN			4	660	+			128					Q6FH95|Q7Z4J8|Q9UED4	Silent	SNP	ENST00000480798.1	37	c.384C>T	CCDS13165.2																																																																																				0.597	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650		82	394	0	0	0	1	0	82	394					T	24940294	C	T	24940294	2	4	79	1	0	0	0	0	0	0	0	1	3988	900	32	2		2	CST7	20	24940294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	416508	24940294	38085226	20090	30407											
ACSS1	84532	broad.mit.edu	37	chr20	25003612	25003612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatagagcaggtagcctgcCtgggtatggacgatgccctt	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25003612C>T	ENST00000323482.4	-	5	1003	c.924G>A	c.(922-924)caG>caA	p.Q308Q	ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000537502.1_Silent_p.Q225Q	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	308					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)	GGTAGCCTGCCTGGGTATGGA	0.637																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(673-675)caG>caA		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						74	56	62					20																	25003612		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25003612C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.924G>A	20.37:g.25003612C>T						ACSS1_ENST00000542618.1_Silent_p.Q187Q|ACSS1_ENST00000432802.2_Silent_p.Q308Q|ACSS1_ENST00000323482.4_Silent_p.Q308Q	p.Q225Q			Q9NUB1	ACS2L_HUMAN			3	2206	-			308					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.675G>A	CCDS13167.1																																																																																				0.637	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		16	148	0	0	0	1	0	16	148					T	25003612	C	T	25003612	2	4	79	1	0	0	0	0	0	0	0	1	188	680	24	2		2	ACSS1	20	25003612	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63318	25003612	38021908	20091	30408											
ENTPD6	955	broad.mit.edu	37	chr20	25203540	25203540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaacagagtgcacaggaCggaggaagtgaagcatgtgg	15	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25203540C>T	ENST00000376652.4	+	12	1275	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	ENTPD6_ENST00000360031.2_Missense_Mutation_p.T370M|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M|ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	371					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCACAGGACGGAGGAAGTG	0.577																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1108-1110)aCg>aTg		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							187	155	166					20																	25203540		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25203540C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1112C>T	20.37:g.25203540C>T	ENSP00000365840:p.Thr371Met					ENTPD6_ENST00000354989.5_Missense_Mutation_p.T354M|ENTPD6_ENST00000376652.4_Missense_Mutation_p.T371M|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T337M	p.T370M	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			12	1291	+			371					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1109C>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701382|2.701382	0.48307|0.48307	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417;ENST00000447877|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000433259	.|T;T;T;T	.|0.18338	.|2.61;2.61;2.61;2.22	5.67|5.67	1.65|1.65	0.23941|0.23941	.|.	.|0.362158	.|0.32357	.|N	.|0.006218	T|T	0.32615|0.32615	0.0835|0.0835	M|M	0.71036|0.71036	2.16|2.16	0.09310|0.09310	N|N	1|1	.|P;D;D;D;P;D;D;D	.|0.62365	.|0.889;0.991;0.985;0.991;0.889;0.973;0.991;0.991	.|B;P;P;P;P;P;P;P	.|0.60236	.|0.287;0.829;0.806;0.871;0.541;0.671;0.79;0.79	T|T	0.10042|0.10042	-1.0647|-1.0647	5|10	.|0.72032	.|D	.|0.01	-6.0596|-6.0596	9.8497|9.8497	0.41048|0.41048	0.0:0.7265:0.0:0.2735|0.0:0.7265:0.0:0.2735	.|.	.|119;353;371;337;354;370;370;371	.|B4DHS2;B4DDM7;B4DNK6;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;ENTP6_HUMAN	W|M	292;230|354;370;291;267;371;337	.|ENSP00000347084:T354M;ENSP00000353131:T370M;ENSP00000365840:T371M;ENSP00000401895:T337M	.|ENSP00000347084:T354M	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25151540|25151540	0.079000|0.079000	0.21365|0.21365	0.000000|0.000000	0.03702|0.03702	0.638000|0.638000	0.38207|0.38207	2.982000|2.982000	0.49337|0.49337	0.086000|0.086000	0.17137|0.17137	0.462000|0.462000	0.41574|0.41574	CGG|ACG		0.577	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			128	590	0	0	0	1	0	128	590					T	25203540	C	T	25203540	3	4	79	1	0	0	0	0	1	0	0	0	5161	536	19	1	1161	1	ENTPD6	20	25203540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199928	25203540	37821980	20092	30409											
ENTPD6	955	broad.mit.edu	37	chr20	25205907	25205907	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggacctcacctacgtcaGcctgctactccaggagttcg	9	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205907G>T	ENST00000376652.4	+	14	1473	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	ENTPD6_ENST00000360031.2_Missense_Mutation_p.S436I|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	437					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ACCTACGTCAGCCTGCTACTC	0.607																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1306-1308)aGc>aTc		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							117	82	94					20																	25205907		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25205907G>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1310G>T	20.37:g.25205907G>T	ENSP00000365840:p.Ser437Ile					ENTPD6_ENST00000354989.5_Missense_Mutation_p.S420I|ENTPD6_ENST00000376652.4_Missense_Mutation_p.S437I|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q417H	p.S436I	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			14	1489	+			437					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1307G>T	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	6.619|6.619|6.619	0.482540|0.482540|0.482540	0.12581|0.12581|0.12581	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000376641;ENST00000433259|ENST00000354989;ENST00000360031;ENST00000376652	.|T|T;T;T	.|0.19394|0.13778	.|2.15|2.56;2.56;2.56	5.76|5.76|5.76	3.79|3.79|3.79	0.43588|0.43588|0.43588	.|.|.	.|.|0.144262	.|.|0.64402	.|.|D	.|.|0.000006	T|T|T	0.10594|0.10594|0.10594	0.0259|0.0259|0.0259	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B|B;B;B;B	.|0.06786|0.31026	.|0.001;0.001;0.001|0.304;0.023;0.107;0.107	.|B;B;B|B;B;B;B	.|0.06405|0.30029	.|0.001;0.002;0.002|0.11;0.056;0.104;0.104	T|T|T	0.19745|0.19745|0.19745	-1.0296|-1.0296|-1.0296	5|9|10	.|0.72032|0.66056	.|D|D	.|0.01|0.02	-25.0532|-25.0532|-25.0532	8.7005|8.7005|8.7005	0.34323|0.34323|0.34323	0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0|0.0785:0.2848:0.6367:0.0	.|.|.	.|433;451;417|185;420;436;437	.|B4DDM7;B4DNK6;Q5QPI9|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.|.;.;.;ENTP6_HUMAN	S|H|I	296;275|347;417|420;436;437	.|ENSP00000401895:Q417H|ENSP00000347084:S420I;ENSP00000353131:S436I;ENSP00000365840:S437I	.|ENSP00000365828:Q347H|ENSP00000347084:S420I	A|Q|S	+|+|+	1|3|2	0|2|0	ENTPD6|ENTPD6|ENTPD6	25153907|25153907|25153907	0.975000|0.975000|0.975000	0.34042|0.34042|0.34042	0.073000|0.073000|0.073000	0.20177|0.20177|0.20177	0.005000|0.005000|0.005000	0.04900|0.04900|0.04900	1.662000|1.662000|1.662000	0.37418|0.37418|0.37418	1.423000|1.423000|1.423000	0.47198|0.47198|0.47198	-0.257000|-0.257000|-0.257000	0.10917|0.10917|0.10917	GCC|CAG|AGC		0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			18	125	1	0	1.33834e-09	1	1.40959e-09	18	125					T	25205907	G	T	25205907	3	4	79	1	0	0	0	0	1	0	0	0	5161	971	34	3	1367	3	ENTPD6	20	25205907	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2367	25205907	37819613	20093	30410											
ENTPD6	955	broad.mit.edu	37	chr20	25205943	25205943	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcggctttcccaggagcaAagtgctgaaggtaagggtgc	15	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205943A>G	ENST00000376652.4	+	14	1509	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	ENTPD6_ENST00000360031.2_Missense_Mutation_p.K448R|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Silent_p.Q429Q|ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	449					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCAGGAGCAAAGTGCTGAAG	0.607																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1342-1344)aAa>aGa		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							107	77	87					20																	25205943		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25205943A>G	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1346A>G	20.37:g.25205943A>G	ENSP00000365840:p.Lys449Arg					ENTPD6_ENST00000354989.5_Missense_Mutation_p.K432R|ENTPD6_ENST00000376652.4_Missense_Mutation_p.K449R|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000433259.2_Silent_p.Q429Q	p.K448R	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			14	1525	+			449					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1343A>G	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.36|13.36	2.213574|2.213574	0.39102|0.39102	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000447877;ENST00000376666|ENST00000354989;ENST00000360031;ENST00000376652	T|T;T;T	0.24538|0.11604	1.85|2.76;2.76;2.76	5.76|5.76	4.66|4.66	0.58398|0.58398	.|.	0.146358|0.146358	0.64402|0.64402	D|N	0.000014|0.000014	T|T	0.06917|0.06917	0.0176|0.0176	N|N	0.12961|0.12961	0.28|0.28	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.29188	.|0.024;0.02;0.236;0.236	.|B;B;B;B	.|0.34590	.|0.056;0.029;0.186;0.186	T|T	0.36986|0.36986	-0.9725|-0.9725	7|10	.|0.12430	.|T	.|0.62	-13.8871|-13.8871	9.6271|9.6271	0.39757|0.39757	0.9198:0.0:0.0802:0.0|0.9198:0.0:0.0802:0.0	.|.	.|197;432;448;449	.|B4DHS2;O75354-2;Q5QPJ2;O75354	.|.;.;.;ENTP6_HUMAN	E|R	308;287|432;448;449	ENSP00000406975:K308E|ENSP00000347084:K432R;ENSP00000353131:K448R;ENSP00000365840:K449R	.|ENSP00000347084:K432R	K|K	+|+	1|2	0|0	ENTPD6|ENTPD6	25153943|25153943	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.741000|0.741000	0.42261|0.42261	3.715000|3.715000	0.54897|0.54897	0.988000|0.988000	0.38734|0.38734	0.460000|0.460000	0.39030|0.39030	AAG|AAA		0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			22	128	0	0	0	1	0	22	128					G	25205943	A	G	25205943	3	3	79	1	0	0	0	0	1	0	0	0	5161	14	1	4	1403	4	ENTPD6	20	25205943	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36	25205943	37819577	20094	30411											
PYGB	5834	broad.mit.edu	37	chr20	25255323	25255323	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttctacggacgcgtggaGcacacccccgacggcgtgaa	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25255323G>A	ENST00000216962.4	+	5	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	208					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						GACGCGTGGAGCACACCCCCG	0.637																																						ENST00000216962.4																			0				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						c.(622-624)gaG>gaA		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						95	105	102					20																	25255323		2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25255323G>A		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.624G>A	20.37:g.25255323G>A							p.E208E	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			5	734	+			208					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.624G>A	CCDS13171.1																																																																																				0.637	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		27	917	0	0	0	1	0	27	917					A	25255323	G	A	25255323	2	1	79	1	0	0	0	0	0	0	0	1	12910	962	34	2		2	PYGB	20	25255323	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49380	25255323	37770197	20095	30412											
PYGB	5834	broad.mit.edu	37	chr20	25277122	25277122	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtgtggagccctccgaCctgcagatcccgccccccaa	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25277122C>T	ENST00000216962.4	+	20	2606	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	PYGB_ENST00000471359.1_3'UTR|ABHD12_ENST00000376542.3_Intron	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	832					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						AGCCCTCCGACCTGCAGATCC	0.602																																						ENST00000216962.4																			0				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						c.(2494-2496)gaC>gaT		phosphorylase, glycogen; brain	Pyridoxal Phosphate(DB00114)						82	67	72					20																	25277122		2203	4300	6503	SO:0001819	synonymous_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25277122C>T		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.2496C>T	20.37:g.25277122C>T						ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	p.D832D	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN			20	2606	+			832					Q96AK1|Q9NPX8	Silent	SNP	ENST00000216962.4	37	c.2496C>T	CCDS13171.1																																																																																				0.602	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		63	327	0	0	0	1	0	63	327					T	25277122	C	T	25277122	2	4	79	1	0	0	0	0	0	0	0	1	12910	506	18	2		2	PYGB	20	25277122	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21799	25277122	37748398	20096	30413											
ABHD12	26090	broad.mit.edu	37	chr20	25288673	25288673	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttccaatataagggcatctgGaggcgtctctagataaacaa	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25288673G>A	ENST00000339157.5	-	9	1068	c.796C>T	c.(796-798)Cca>Tca	p.P266S	ABHD12_ENST00000481556.1_5'UTR|ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	266					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						AGGGCATCTGGAGGCGTCTCT	0.463																																						ENST00000339157.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						c.(796-798)Cca>Tca		abhydrolase domain containing 12							64	64	64					20																	25288673		2203	4300	6503	SO:0001583	missense	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25288673G>A	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.796C>T	20.37:g.25288673G>A	ENSP00000341408:p.Pro266Ser					ABHD12_ENST00000376542.3_Missense_Mutation_p.P266S|ABHD12_ENST00000481556.1_5'UTR	p.P266S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN			9	1068	-			266					A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	c.796C>T	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714331	0.89112	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.22945	1.98;1.93	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	M	0.74546	2.27	0.80722	D	1	P;D;D	0.89917	0.876;1.0;1.0	P;D;D	0.91635	0.646;0.999;0.988	T	0.50311	-0.8843	10	0.51188	T	0.08	-21.0005	19.2866	0.94077	0.0:0.0:1.0:0.0	.	228;266;266	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	266;266;228	ENSP00000365725:P266S;ENSP00000341408:P266S	ENSP00000341408:P266S	P	-	1	0	ABHD12	25236673	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.635000	0.91006	2.884000	0.98904	0.655000	0.94253	CCA		0.463	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		41	293	0	0	0	1	0	41	293					A	25288673	G	A	25288673	3	1	79	1	0	0	0	0	1	0	0	0	76	1174	41	2	482	2	ABHD12	20	25288673	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11551	25288673	37736847	20097	30414											
GINS1	9837	broad.mit.edu	37	chr20	25422396	25422397	+	Frame_Shift_Ins	INS	-	-	A													gatggcacttcagtcctattINSaaaaaaaaatagccaggtat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25422396_25422397insA	ENST00000262460.4	+	6	600_601	c.506_507insA	c.(505-510)ttaaaafs	p.LK169fs	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	169					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TCAGTCCTATTAAAAAAAAATA	0.297																																						ENST00000262460.4																			1	Deletion - Frameshift(1)	p.N172fs*14(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(505-507)taafs		GINS complex subunit 1 (Psf1 homolog)																																				SO:0001589	frameshift_variant	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25422396_25422397insA	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.515dupA	20.37:g.25422405_25422405dupA	ENSP00000262460:p.Leu169fs					GINS1_ENST00000429262.2_3'UTR	p.*169fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN			6	600_601	+			169					Q9NQE2|Q9NQI7	Frame_Shift_Ins	INS	ENST00000262460.4	37	c.506_507insA	CCDS33451.1																																																																																				0.297	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		7	321						7	321	---	---	---	---	A	25422397	-	A	25422396	7	5	79	1	0	1	1	0	0	0	0	0	6416	1764	61	0	528	0	GINS1	20	25422396	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	133723	25422396	37603124	20098	30415											
NINL	22981	broad.mit.edu	37	chr20	25450686	25450686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccgaacccttcccagatcGtttttcaacaaagtgttttc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25450686G>A	ENST00000278886.6	-	18	3367	c.3294C>T	c.(3292-3294)aaC>aaT	p.N1098N	NINL_ENST00000422516.1_Silent_p.N749N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1098					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						TTCCCAGATCGTTTTTCAACA	0.507											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3292-3294)aaC>aaT		ninein-like							182	179	180					20																	25450686		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25450686G>A		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.3294C>T	20.37:g.25450686G>A			OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	779	NINL_ENST00000422516.1_Silent_p.N749N	p.N1098N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			18	3367	-			1098					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.3294C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	0.087	-1.173344	0.01646	.	.	ENSG00000101004	ENST00000336104	.	.	.	4.66	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3007	1.1511	0.01786	0.3569:0.2675:0.2455:0.1301	.	.	.	.	X	51	.	.	R	-	1	2	NINL	25398686	0.220000	0.23631	0.000000	0.03702	0.107000	0.19398	0.042000	0.13949	-0.628000	0.05582	-0.302000	0.09304	CGA		0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		171	703	0	0	0	1	0	171	703					A	25450686	G	A	25450686	2	1	79	1	0	0	0	0	0	0	0	1	10462	1136	40	1		1	NINL	20	25450686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28290	25450686	37574834	20099	30416											
NINL	22981	broad.mit.edu	37	chr20	25457376	25457376	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggccgctccccacagcccgGacgcagtggtaggaggccac	14	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25457376G>A	ENST00000278886.6	-	17	2624	c.2551C>T	c.(2551-2553)Ccg>Tcg	p.P851S	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	851					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						CCACAGCCCGGACGCAGTGGT	0.706																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(2551-2553)Ccg>Tcg		ninein-like							17	18	18					20																	25457376		2195	4289	6484	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457376G>A		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.2551C>T	20.37:g.25457376G>A	ENSP00000278886:p.Pro851Ser					NINL_ENST00000422516.1_Intron	p.P851S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			17	2624	-			851					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2551C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914602	0.17907	.	.	ENSG00000101004	ENST00000278886	T	0.30448	1.53	2.44	1.47	0.22746	.	0.385935	0.21657	N	0.071096	T	0.15349	0.0370	N	0.24115	0.695	0.09310	N	1	P	0.48834	0.916	B	0.42522	0.39	T	0.16158	-1.0412	10	0.06494	T	0.89	-1.3398	6.899	0.24273	0.0:0.3611:0.6389:0.0	.	851	Q9Y2I6	NINL_HUMAN	S	851	ENSP00000278886:P851S	ENSP00000278886:P851S	P	-	1	0	NINL	25405376	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.438000	0.21559	0.604000	0.29930	0.561000	0.74099	CCG		0.706	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		33	122	0	0	0	1	0	33	122					A	25457376	G	A	25457376	3	1	79	1	0	0	0	0	1	0	0	0	10462	1174	41	2	1629	2	NINL	20	25457376	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6690	25457376	37568144	20100	30417											
NINL	22981	broad.mit.edu	37	chr20	25470535	25470535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttcagcacaaactccagGtccttctgcagcttcagggc	8	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25470535G>A	ENST00000278886.6	-	12	1645	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	NINL_ENST00000422516.1_Silent_p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	524					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						CAAACTCCAGGTCCTTCTGCA	0.597																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1570-1572)gaC>gaT		ninein-like							169	153	159					20																	25470535		2203	4300	6503	SO:0001819	synonymous_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25470535G>A		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.1572C>T	20.37:g.25470535G>A						NINL_ENST00000422516.1_Silent_p.D524D	p.D524D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			12	1645	-			524					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	ENST00000278886.6	37	c.1572C>T	CCDS33452.1																																																																																				0.597	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		124	498	0	0	0	1	0	124	498					A	25470535	G	A	25470535	2	1	79	1	0	0	0	0	0	0	0	1	10462	1252	44	2		2	NINL	20	25470535	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13159	25470535	37554985	20101	30418											
NINL	22981	broad.mit.edu	37	chr20	25507115	25507115	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctccaggtgaagcttaaGgcagagctgggtcagctcct	13	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25507115G>A	ENST00000278886.6	-	2	182	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	NINL_ENST00000422516.1_Missense_Mutation_p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGAAGCTTAAGGCAGAGCTGG	0.572																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(109-111)Ctt>Ttt		ninein-like							131	129	130					20																	25507115		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25507115G>A		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.109C>T	20.37:g.25507115G>A	ENSP00000278886:p.Leu37Phe					NINL_ENST00000422516.1_Missense_Mutation_p.L37F	p.L37F	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			2	182	-			37			EF-hand 1.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.109C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445863	0.25987	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.22134	1.97;1.97	5.11	2.05	0.26809	EF-hand-like domain (1);	1.410640	0.04275	N	0.342829	T	0.10766	0.0263	N	0.08118	0	0.22142	N	0.999338	B;B	0.16396	0.004;0.017	B;B	0.15052	0.004;0.012	T	0.29671	-1.0004	10	0.09843	T	0.71	0.1571	6.9357	0.24464	0.1545:0.0:0.7002:0.1453	.	37;37	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	F	37	ENSP00000278886:L37F;ENSP00000410431:L37F	ENSP00000278886:L37F	L	-	1	0	NINL	25455115	0.991000	0.36638	0.322000	0.25334	0.984000	0.73092	1.990000	0.40717	0.390000	0.25115	0.561000	0.74099	CTT		0.572	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		144	703	0	0	0	1	0	144	703					A	25507115	G	A	25507115	3	1	79	1	0	0	0	0	1	0	0	0	10462	1000	35	2	4131	2	NINL	20	25507115	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36580	25507115	37518405	20102	30419											
ZNF337	26152	broad.mit.edu	37	chr20	25656542	25656542	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtccacagtccttgcacAcaaaaggcttctcctctgag	7	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656542A>G	ENST00000376436.1	-	4	1921	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	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(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						GTCCTTGCACACAAAAGGCTT	0.468																																						ENST00000376436.1																			0				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						c.(1381-1383)gTg>gCg		zinc finger protein 337							156	134	141					20																	25656542		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656542A>G		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.1382T>C	20.37:g.25656542A>G	ENSP00000365619:p.Val461Ala					RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V461A|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V429A|RP4-694B14.5_ENST00000439498.1_RNA	p.V461A							4	1921	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1382T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.53	2.562285	0.45694	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	L	0.31294	0.92	0.09310	N	1	P;P	0.36587	0.559;0.559	B;B	0.28305	0.088;0.088	T	0.26815	-1.0092	9	0.25751	T	0.34	.	6.387	0.21566	1.0:0.0:0.0:0.0	.	429;461	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	461;461;461;429	ENSP00000365619:V461A;ENSP00000252979:V461A;ENSP00000442181:V429A	ENSP00000252979:V461A	V	-	2	0	ZNF337	25604542	0.000000	0.05858	0.091000	0.20842	0.768000	0.43524	-0.747000	0.04823	0.742000	0.32697	0.248000	0.18094	GTG		0.468	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			67	702	0	0	0	1	0	67	702					G	25656542	A	G	25656542	3	3	79	1	0	0	0	0	1	0	0	0	17906	159	6	4	877	4	ZNF337	20	25656542	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	149427	25656542	37368978	20103	30420											
ZNF337	26152	broad.mit.edu	37	chr20	25656919	25656919	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgtattctcttgtgcacaacGaagtatgacttattagtata	7	6	1	1	rs367547255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656919G>A	ENST00000376436.1	-	4	1544	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F303F|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Silent_p.F335F			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(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						TGTGCACAACGAAGTATGACT	0.478																																						ENST00000376436.1																			0				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						c.(1003-1005)ttC>ttT		zinc finger protein 337		G		0,4406		0,0,2203	85	78	81		1005	1.3	0	20		81	1,8599		0,1,4299	no	coding-synonymous	ZNF337	NM_015655.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		335/752	25656919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26152							g.chr20:25656919G>A		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.1005C>T	20.37:g.25656919G>A						RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Silent_p.F335F|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Silent_p.F303F|RP4-694B14.5_ENST00000439498.1_RNA	p.F335F							4	1544	-								B4DSM2|Q9Y3Y5	Silent	SNP	ENST00000376436.1	37	c.1005C>T	CCDS13174.1																																																																																				0.478	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	520	0	0	0	1	0	9	520					A	25656919	G	A	25656919	2	1	79	1	0	0	0	0	0	0	0	1	17906	1049	37	1		1	ZNF337	20	25656919	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377	25656919	37368601	20104	30421											
ZNF337	26152	broad.mit.edu	37	chr20	25657080	25657080	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtgtgttctctcatGcacagtgaggtatgacttac	10	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25657080G>A	ENST00000376436.1	-	4	1383	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	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)			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						GTTCTCTCATGCACAGTGAGG	0.502																																						ENST00000376436.1																			0				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						c.(844-846)Cat>Tat		zinc finger protein 337							180	168	172					20																	25657080		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25657080G>A		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.844C>T	20.37:g.25657080G>A	ENSP00000365619:p.His282Tyr					RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.H282Y|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.H250Y|RP4-694B14.5_ENST00000439498.1_RNA	p.H282Y							4	1383	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.844C>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.244414	0.79912	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	D;D;D	0.86769	-2.17;-2.17;-2.17	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94892	0.8349	H	0.97983	4.12	0.30488	N	0.77168	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.941	D	0.89548	0.3797	9	0.87932	D	0	.	8.2365	0.31629	0.0:0.0:1.0:0.0	.	250;282	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Y	282;282;282;250	ENSP00000365619:H282Y;ENSP00000252979:H282Y;ENSP00000442181:H250Y	ENSP00000252979:H282Y	H	-	1	0	ZNF337	25605080	0.998000	0.40836	0.046000	0.18839	0.954000	0.61252	3.871000	0.56077	0.935000	0.37341	0.306000	0.20318	CAT		0.502	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			154	711	0	0	0	1	0	154	711					A	25657080	G	A	25657080	3	1	79	1	0	0	0	0	1	0	0	0	17906	1319	46	2	1415	2	ZNF337	20	25657080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	25657080	37368440	20105	30422											
DEFB119	245932	broad.mit.edu	37	chr20	29965236	29965236	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcatcgaaggatgtggCgtttgcctgccaaaggaaaa	12	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29965236C>T	ENST00000376321.3	-	2	187	c.68G>A	c.(67-69)cGc>cAc	p.R23H	SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_Silent_p.T36T	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	23					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T36T(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGATGTGGCGTTTGCCTGC	0.433																																						ENST00000376321.3																			1	Substitution - coding silent(1)	p.T36T(1)	large_intestine(1)	large_intestine(2)|lung(1)|prostate(1)	4						c.(67-69)cGc>cAc		defensin, beta 119							135	127	130					20																	29965236		2203	4300	6503	SO:0001583	missense	245932				defense response to bacterium	extracellular region		g.chr20:29965236C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.68G>A	20.37:g.29965236C>T	ENSP00000365499:p.Arg23His					DEFB119_ENST00000339144.3_Silent_p.T36T|DEFB119_ENST00000492344.1_5'UTR	p.R23H	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	187	-	all_hematologic(12;0.158)		23					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.68G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085801	0.08583	.	.	ENSG00000180483	ENST00000376321	T	0.29917	1.55	4.23	-5.42	0.02640	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.26503	-1.0101	8	0.27082	T	0.32	.	7.9032	0.29746	0.0:0.1838:0.1351:0.681	.	23	Q8N690	DB119_HUMAN	H	23	ENSP00000365499:R23H	ENSP00000365499:R23H	R	-	2	0	DEFB119	29428897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.238000	0.01199	-1.088000	0.03077	-0.136000	0.14681	CGC		0.433	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		82	376	0	0	0	1	0	82	376					T	29965236	C	T	29965236	3	4	79	1	0	0	0	0	1	0	0	0	4422	768	27	1	190	1	DEFB119	20	29965236	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4308156	29965236	33060284	20106	30423											
REM1	28954	broad.mit.edu	37	chr20	30064336	30064336	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtccccacggggccaccagCctggccgcctgagcacagtg	13	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30064336C>A	ENST00000201979.2	+	2	381	c.88C>A	c.(88-90)Cct>Act	p.P30T	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	30					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGGCCACCAGCCTGGCCGCCT	0.657																																						ENST00000201979.2																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(88-90)Cct>Act		RAS (RAD and GEM)-like GTP-binding 1							76	88	84					20																	30064336		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30064336C>A	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.88C>A	20.37:g.30064336C>A	ENSP00000201979:p.Pro30Thr					DEFB124_ENST00000481595.1_Intron	p.P30T	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	381	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		30					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.88C>A	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027703	0.54790	.	.	ENSG00000088320	ENST00000201979	T	0.65916	-0.18	4.55	3.59	0.41128	.	0.410133	0.19588	N	0.110692	T	0.43366	0.1244	N	0.19112	0.55	0.26069	N	0.981242	B	0.33964	0.434	B	0.28011	0.085	T	0.47045	-0.9147	10	0.66056	D	0.02	.	10.6959	0.45899	0.0:0.9038:0.0:0.0962	.	30	O75628	REM1_HUMAN	T	30	ENSP00000201979:P30T	ENSP00000201979:P30T	P	+	1	0	REM1	29527997	0.890000	0.30428	1.000000	0.80357	0.852000	0.48524	2.140000	0.42159	2.350000	0.79820	0.655000	0.94253	CCT		0.657	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012		50	547	1	0	1.51926e-22	1	1.72e-22	50	547					A	30064336	C	A	30064336	3	1	79	1	0	0	0	0	1	0	0	0	13272	739	26	3	90	3	REM1	20	30064336	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	99100	30064336	32961184	20107	30424											
COX4I2	84701	broad.mit.edu	37	chr20	30227779	30227779	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctacaccaactgctatgcCcagcgctactaccccatgcc	5	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30227779C>A	ENST00000376075.3	+	3	201	c.126C>A	c.(124-126)gcC>gcA	p.A42A	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	42					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTGCTATGCCCAGCGCTACT	0.597																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(124-126)gcC>gcA		cytochrome c oxidase subunit IV isoform 2 (lung)							78	67	71					20																	30227779		2203	4300	6503	SO:0001819	synonymous_variant	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30227779C>A	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.126C>A	20.37:g.30227779C>A						COX4I2_ENST00000490030.1_3'UTR	p.A42A	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		3	201	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		42					Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	c.126C>A	CCDS13187.1																																																																																				0.597	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		38	241	1	0	4.10981e-09	1	4.31816e-09	38	241					A	30227779	C	A	30227779	2	1	79	1	0	0	0	0	0	0	0	1	3779	610	22	3		3	COX4I2	20	30227779	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	163443	30227779	32797741	20108	30425											
COX4I2	84701	broad.mit.edu	37	chr20	30232619	30232619	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagcggaaagcccagcAgctgcagcgcatgctggaca	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30232619A>C	ENST00000376075.3	+	5	503	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	COX4I2_ENST00000490030.1_3'UTR	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	143					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAAGCCCAGCAGCTGCAGCGC	0.572																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(427-429)cAg>cCg		cytochrome c oxidase subunit IV isoform 2 (lung)							88	73	78					20																	30232619		2203	4300	6503	SO:0001583	missense	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30232619A>C	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"Mitochondrial respiratory chain complex / Complex IV"	16232	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit IV-like 2"	607976	"cytochrome c oxidase subunit IV isoform 2"	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.428A>C	20.37:g.30232619A>C	ENSP00000365243:p.Gln143Pro					COX4I2_ENST00000490030.1_3'UTR	p.Q143P	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		5	503	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		143					Q6GTF4|Q9H0Z4	Missense_Mutation	SNP	ENST00000376075.3	37	c.428A>C	CCDS13187.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170242	0.57584	.	.	ENSG00000131055	ENST00000376075	T	0.58358	0.34	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.73125	0.3547	M	0.87971	2.92	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.77186	-0.2680	10	0.72032	D	0.01	-13.3586	9.8851	0.41257	1.0:0.0:0.0:0.0	.	143	Q96KJ9	COX42_HUMAN	P	143	ENSP00000365243:Q143P	ENSP00000365243:Q143P	Q	+	2	0	COX4I2	29696280	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	7.631000	0.83237	1.840000	0.53500	0.260000	0.18958	CAG		0.572	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		36	193	0	0	0	1	0	36	193					C	30232619	A	C	30232619	3	2	79	1	0	0	0	0	1	0	0	0	3779	188	7	4	442	4	COX4I2	20	30232619	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4840	30232619	32792901	20109	30426											
TPX2	22974	broad.mit.edu	37	chr20	30371596	30371596	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctgtgaaaccacccaccGagcctattggctttgatttg	8	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30371596G>A	ENST00000300403.6	+	12	1813	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TPX2_ENST00000340513.4_Missense_Mutation_p.E465K	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	429					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)			ACCACCCACCGAGCCTATTGG	0.428																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1393-1395)Gag>Aag		TPX2, microtubule-associated							90	95	93					20																	30371596		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30371596G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1285G>A	20.37:g.30371596G>A	ENSP00000300403:p.Glu429Lys					TPX2_ENST00000300403.6_Missense_Mutation_p.E429K	p.E465K			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		13	1921	+			429					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1393G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385248	0.25031	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.29142	1.58	5.7	4.75	0.60458	.	0.298342	0.34067	N	0.004294	T	0.07369	0.0186	N	0.00392	-1.555	0.23972	N	0.996307	B;B	0.16802	0.019;0.002	B;B	0.09377	0.004;0.001	T	0.29701	-1.0003	10	0.02654	T	1	-9.9915	10.8839	0.46955	0.1439:0.7129:0.1432:0.0	.	465;429	Q96RR5;Q9ULW0	.;TPX2_HUMAN	K	429;465	ENSP00000341145:E465K	ENSP00000300403:E429K	E	+	1	0	TPX2	29835257	0.371000	0.25056	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.406000	0.46857	-0.153000	0.13522	GAG		0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			108	404	0	0	0	1	0	108	404					A	30371596	G	A	30371596	3	1	79	1	0	0	0	0	1	0	0	0	16485	1059	37	1	1323	1	TPX2	20	30371596	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138977	30371596	32653924	20110	30427											
TPX2	22974	broad.mit.edu	37	chr20	30388825	30388825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctggagataaagtcaaGtgaccagcctctgactgtgc	13	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30388825G>A	ENST00000300403.6	+	18	2714	c.2186G>A	c.(2185-2187)aGt>aAt	p.S729N	TPX2_ENST00000340513.4_Missense_Mutation_p.S765N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	729					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)			ATAAAGTCAAGTGACCAGCCT	0.502																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2293-2295)aGt>aAt		TPX2, microtubule-associated							182	155	164					20																	30388825		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30388825G>A	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.2186G>A	20.37:g.30388825G>A	ENSP00000300403:p.Ser729Asn					TPX2_ENST00000300403.6_Missense_Mutation_p.S729N	p.S765N			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		19	2822	+			729					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.2294G>A	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020733	0.93462	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.53423	0.62	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.81497	2.545	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.986;0.994	T	0.73773	-0.3877	10	0.72032	D	0.01	-4.5283	18.891	0.92403	0.0:0.0:1.0:0.0	.	765;729	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	729;765	ENSP00000341145:S765N	ENSP00000300403:S729N	S	+	2	0	TPX2	29852486	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.797000	0.85911	2.941000	0.99782	0.655000	0.94253	AGT		0.502	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			133	654	0	0	0	1	0	133	654					A	30388825	G	A	30388825	3	1	79	1	0	0	0	0	1	0	0	0	16485	1029	36	2	2248	2	TPX2	20	30388825	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17229	30388825	32636695	20111	30428											
MYLK2	85366	broad.mit.edu	37	chr20	30411332	30411332	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caccgcatggtggagctgagGaccgggaatgtcagcagtga	16	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30411332G>A	ENST00000375994.2	+	4	1098	c.825G>A	c.(823-825)agG>agA	p.R275R	MYLK2_ENST00000375985.4_Silent_p.R275R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	275					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)			TGGAGCTGAGGACCGGGAATG	0.622											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375994.2																			0				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						c.(823-825)agG>agA		myosin light chain kinase 2							97	102	100					20																	30411332		2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30411332G>A	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.825G>A	20.37:g.30411332G>A			OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	817	MYLK2_ENST00000375985.4_Silent_p.R275R	p.R275R			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	1098	+			275					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.825G>A	CCDS13191.1																																																																																				0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		35	865	0	0	0	1	0	35	865					A	30411332	G	A	30411332	2	1	79	1	0	0	0	0	0	0	0	1	10098	1165	41	2		2	MYLK2	20	30411332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22507	30411332	32614188	20112	30429											
MYLK2	85366	broad.mit.edu	37	chr20	30418629	30418629	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctttctcctcagccagagaAcatcctgtgtgtcaacacca	6	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418629A>C	ENST00000375994.2	+	8	1505	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.N411T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CAGCCAGAGAACATCCTGTGT	0.622																																						ENST00000375994.2																			0				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						c.(1231-1233)aAc>aCc		myosin light chain kinase 2							162	161	161					20																	30418629		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418629A>C	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.1232A>C	20.37:g.30418629A>C	ENSP00000365162:p.Asn411Thr					MYLK2_ENST00000375985.4_Missense_Mutation_p.N411T|MYLK2_ENST00000468730.1_3'UTR	p.N411T			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		8	1505	+			411			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1232A>C	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934217	0.73442	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	D;D	0.91996	-2.95;-2.95	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.96197	0.8760	M	0.89785	3.06	0.53688	D	0.999973	D	0.65815	0.995	D	0.72075	0.976	D	0.96636	0.9470	9	0.87932	D	0	.	12.0947	0.53748	1.0:0.0:0.0:0.0	.	411	Q9H1R3	MYLK2_HUMAN	T	411	ENSP00000365162:N411T;ENSP00000365152:N411T	ENSP00000365152:N411T	N	+	2	0	MYLK2	29882290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.182000	0.77689	1.678000	0.50952	0.459000	0.35465	AAC		0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		202	1127	0	0	0	1	0	202	1127					C	30418629	A	C	30418629	3	2	79	1	0	0	0	0	1	0	0	0	10098	43	2	4	1262	4	MYLK2	20	30418629	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7297	30418629	32606891	20113	30430											
MYLK2	85366	broad.mit.edu	37	chr20	30418685	30418685	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agatcattgactttggcctgGcacggaggtaccacctgggt	13	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418685G>T	ENST00000375994.2	+	8	1561	c.1288G>T	c.(1288-1290)Gca>Tca	p.A430S	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CTTTGGCCTGGCACGGAGGTA	0.622																																						ENST00000375994.2																			0				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						c.(1288-1290)Gca>Tca		myosin light chain kinase 2							116	113	114					20																	30418685		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30418685G>T	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.1288G>T	20.37:g.30418685G>T	ENSP00000365162:p.Ala430Ser					MYLK2_ENST00000375985.4_Missense_Mutation_p.A430S|MYLK2_ENST00000468730.1_3'UTR	p.A430S			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		8	1561	+			430			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1288G>T	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367341	0.82463	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.72167	-0.63;-0.63	3.76	3.76	0.43208	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73210	0.3558	L	0.31065	0.9	0.58432	D	0.999995	P	0.46327	0.876	P	0.58970	0.849	T	0.75235	-0.3389	9	0.49607	T	0.09	.	15.0927	0.72207	0.0:0.0:1.0:0.0	.	430	Q9H1R3	MYLK2_HUMAN	S	430	ENSP00000365162:A430S;ENSP00000365152:A430S	ENSP00000365152:A430S	A	+	1	0	MYLK2	29882346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.490000	0.97952	2.063000	0.61619	0.561000	0.74099	GCA		0.622	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		158	748	1	0	5.21138e-58	1	6.5303e-58	158	748					T	30418685	G	T	30418685	3	4	79	1	0	0	0	0	1	0	0	0	10098	1203	42	3	1318	3	MYLK2	20	30418685	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	30418685	32606835	20114	30431											
MYLK2	85366	broad.mit.edu	37	chr20	30419645	30419645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actttgtctccaacctcatcGtcaaggaccagaggtgaggc	10	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30419645G>A	ENST00000375994.2	+	10	1837	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	522	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CAACCTCATCGTCAAGGACCA	0.527																																						ENST00000375994.2																			0				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						c.(1564-1566)Gtc>Atc		myosin light chain kinase 2							105	93	97					20																	30419645		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30419645G>A	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.1564G>A	20.37:g.30419645G>A	ENSP00000365162:p.Val522Ile					MYLK2_ENST00000375985.4_Missense_Mutation_p.V522I|MYLK2_ENST00000468730.1_3'UTR	p.V522I			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		10	1837	+			522			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1564G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127489	0.20959	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.65178	-0.14;-0.14	4.88	1.79	0.24919	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	0.51312	0.1667	L	0.56340	1.77	0.23174	N	0.998171	B	0.21606	0.058	B	0.21917	0.037	T	0.36625	-0.9740	9	0.16896	T	0.51	.	6.9167	0.24363	0.4535:0.0:0.5465:0.0	.	522	Q9H1R3	MYLK2_HUMAN	I	522	ENSP00000365162:V522I;ENSP00000365152:V522I	ENSP00000365152:V522I	V	+	1	0	MYLK2	29883306	0.881000	0.30235	1.000000	0.80357	0.990000	0.78478	1.655000	0.37345	0.653000	0.30826	0.643000	0.83706	GTC		0.527	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		70	306	0	0	0	1	0	70	306					A	30419645	G	A	30419645	3	1	79	1	0	0	0	0	1	0	0	0	10098	1145	40	1	1602	1	MYLK2	20	30419645	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	960	30419645	32605875	20115	30432											
DUSP15	128853	broad.mit.edu	37	chr20	30452778	30452778	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtacctcaggggtatcagCgaccgggatgcgaaggtagg	18	8	2	0	rs148170076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30452778C>T	ENST00000278979.3	-	4	233	c.157G>A	c.(157-159)Gct>Act	p.A53T	DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	53					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)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGGGTATCAGCGACCGGGATG	0.582																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.(157-159)Gct>Act		dual specificity phosphatase 15		C	,THR/ALA,	1,4405	2.1+/-5.4	0,1,2202	150	133	138		,166,	3.6	1	20	dbSNP_134	138	0,8600		0,0,4300	no	utr-5,missense,utr-5	DUSP15	NM_001012644.1,NM_080611.3,NM_177991.1	,58,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,benign,	,56/236,	30452778	1,13005	2203	4300	6503	SO:0001583	missense	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30452778C>T		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	16236	protein-coding gene	gene with protein product			"dual specificity phosphatase-like 15"			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.157G>A	20.37:g.30452778C>T	ENSP00000278979:p.Ala53Thr					DUSP15_ENST00000339738.5_Missense_Mutation_p.A56T|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.A53T|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398083.1_5'UTR	p.A53T			Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	233	-			53					A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Missense_Mutation	SNP	ENST00000278979.3	37	c.157G>A		.	.	.	.	.	.	.	.	.	.	C	16.41	3.114975	0.56505	2.27E-4	0.0	ENSG00000149599	ENST00000278979;ENST00000339738;ENST00000375966	D;D;D	0.85556	-2.0;-2.0;-2.0	5.63	3.59	0.41128	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.314349	0.34362	N	0.004033	T	0.77308	0.4111	L	0.42487	1.325	0.80722	D	1	B;P	0.44044	0.152;0.825	B;B	0.41332	0.038;0.354	T	0.72283	-0.4339	10	0.25751	T	0.34	.	7.4858	0.27432	0.1531:0.5807:0.2663:0.0	.	56;53	Q9H1R2-3;Q9H1R2	.;DUS15_HUMAN	T	53;56;53	ENSP00000278979:A53T;ENSP00000341658:A56T;ENSP00000365133:A53T	ENSP00000278979:A53T	A	-	1	0	DUSP15	29916439	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	1.626000	0.37039	1.304000	0.44892	0.561000	0.74099	GCT		0.582	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		7	363	0	0	0	1	0	7	363					T	30452778	C	T	30452778	3	4	79	1	0	0	0	0	1	0	0	0	4831	768	27	1	557	1	DUSP15	20	30452778	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33133	30452778	32572742	20116	30433											
TTLL9	164395	broad.mit.edu	37	chr20	30486338	30486338	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacactcatggacgtccttcGccacaggccaggatgggtgg	13	13	1	0	rs147502895		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30486338G>A	ENST00000375938.4	+	4	429	c.176G>A	c.(175-177)cGc>cAc	p.R59H	TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H|TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|RNU1-94P_ENST00000362627.1_RNA			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	59	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)			GACGTCCTTCGCCACAGGCCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		21241	0.0		0.001	False		,,,				2504	0.0					ENST00000375938.4																			0				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						c.(175-177)cGc>cAc		tubulin tyrosine ligase-like family, member 9		G	HIS/ARG	0,4096		0,0,2048	92	95	94		176	3.5	1	20	dbSNP_134	94	1,8391		0,1,4195	yes	missense	TTLL9	NM_001008409.2	29	0,1,6243	AA,AG,GG		0.0119,0.0,0.0080	benign	59/440	30486338	1,12487	2048	4196	6244	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30486338G>A	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.176G>A	20.37:g.30486338G>A	ENSP00000365105:p.Arg59His					TTLL9_ENST00000375922.4_Missense_Mutation_p.R9H|TTLL9_ENST00000535842.1_Missense_Mutation_p.R59H|TTLL9_ENST00000375921.2_Missense_Mutation_p.R9H|TTLL9_ENST00000375934.4_Missense_Mutation_p.R41H|TTLL9_ENST00000310998.4_Missense_Mutation_p.R9H	p.R59H			Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		4	429	+			59			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.176G>A	CCDS42863.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.96	2.392147	0.42410	0.0	1.19E-4	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.10960	3.76;3.76;3.73;3.08;2.82;3.83	5.48	3.52	0.40303	.	0.271361	0.38548	N	0.001659	T	0.10465	0.0256	L	0.50919	1.6	0.35471	D	0.797353	B	0.11235	0.004	B	0.08055	0.003	T	0.06991	-1.0796	10	0.52906	T	0.07	.	7.8315	0.29344	0.1862:0.0:0.8138:0.0	.	59	Q3SXZ7	TTLL9_HUMAN	H	59;59;9;9;41;41;9	ENSP00000365105:R59H;ENSP00000442515:R59H;ENSP00000308980:R9H;ENSP00000365086:R9H;ENSP00000365100:R41H;ENSP00000365088:R9H	ENSP00000308980:R9H	R	+	2	0	TTLL9	29949999	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.154000	0.42291	1.312000	0.45043	0.563000	0.77884	CGC		0.522	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		9	273	0	0	0	1	0	9	273					A	30486338	G	A	30486338	3	1	79	1	0	0	0	0	1	0	0	0	16788	1087	38	1	186	1	TTLL9	20	30486338	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33560	30486338	32539182	20117	30434											
C20orf160	140706	broad.mit.edu	37	chr20	30602783	30602783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaggagcagcgtgagccGccggcccctgcactcgatgc	14	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30602783G>A	ENST00000300415.8	+	2	120	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CCM2L_ENST00000262659.8_Missense_Mutation_p.R36H			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	36																	AGCGTGAGCCGCCGGCCCCTG	0.632																																						ENST00000300415.8																			0											c.(106-108)cGc>cAc		cerebral cavernous malformation 2-like							73	73	73					20																	30602783		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30602783G>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.107G>A	20.37:g.30602783G>A	ENSP00000300415:p.Arg36His					CCM2L_ENST00000262659.8_Missense_Mutation_p.R36H	p.R36H							2	120	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.107G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.307386	0.95629	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81328	-0.0982	10	0.87932	D	0	-39.7528	16.7122	0.85388	0.0:0.0:1.0:0.0	.	36	Q9NUG4-2	.	H	36	ENSP00000300415:R36H;ENSP00000262659:R36H	ENSP00000262659:R36H	R	+	2	0	C20orf160	30066444	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.977000	0.93446	2.418000	0.82041	0.655000	0.94253	CGC		0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		15	855	0	0	0	1	0	15	855					A	30602783	G	A	30602783	3	1	79	1	0	0	0	0	1	0	0	0	2100	1087	38	1	113	1	C20orf160	20	30602783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116445	30602783	32422737	20118	30435											
TM9SF4	9777	broad.mit.edu	37	chr20	30747903	30747903	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcatggtgtacttccagCtgtgtgcagaggtgaggaga	15	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30747903C>T	ENST00000398022.2	+	16	1913	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TM9SF4_ENST00000217315.5_Silent_p.L543L	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	560						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTACTTCCAGCTGTGTGCAGA	0.537																																						ENST00000217315.5																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1627-1629)Ctg>Ttg		transmembrane 9 superfamily protein member 4							198	150	166					20																	30747903		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30747903C>T	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.1678C>T	20.37:g.30747903C>T						TM9SF4_ENST00000398022.2_Silent_p.L560L	p.L543L			Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		16	1967	+			560					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.1627C>T	CCDS13196.2																																																																																				0.537	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		62	243	0	0	0	1	0	62	243					T	30747903	C	T	30747903	2	4	79	1	0	0	0	0	0	0	0	1	16032	796	28	2		2	TM9SF4	20	30747903	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	145120	30747903	32277617	20119	30436											
ASXL1	171023	broad.mit.edu	37	chr20	31021562	31021562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgtggatcaggaacccaagGatcagaagaggaaatccttt	11	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31021562G>A	ENST00000375687.4	+	12	1985	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	521	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAACCCAAGGATCAGAAGAG	0.522			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1561-1563)Gat>Aat		additional sex combs like 1 (Drosophila)							131	142	139					20																	31021562		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021562G>A	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.1561G>A	20.37:g.31021562G>A	ENSP00000364839:p.Asp521Asn					ASXL1_ENST00000306058.5_Missense_Mutation_p.D516N	p.D521N	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			12	1985	+			521					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1561G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871943	0.91587	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.41065	1.01;1.01	4.91	4.91	0.64330	.	0.216198	0.47455	D	0.000236	T	0.62245	0.2412	M	0.65975	2.015	0.54753	D	0.999989	D;D	0.76494	0.999;0.988	D;P	0.66084	0.941;0.871	T	0.60840	-0.7183	10	0.42905	T	0.14	-6.3966	18.6696	0.91506	0.0:0.0:1.0:0.0	.	516;521	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	521;521;521;460;516	ENSP00000364839:D521N;ENSP00000305119:D516N	ENSP00000305119:D516N	D	+	1	0	ASXL1	30485223	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.113000	0.94321	2.723000	0.93209	0.655000	0.94253	GAT		0.522	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		212	949	0	0	0	1	0	212	949					A	31021562	G	A	31021562	3	1	79	1	0	0	0	0	1	0	0	0	1067	1174	41	2	1613	2	ASXL1	20	31021562	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	273659	31021562	32003958	20120	30437											
ASXL1	171023	broad.mit.edu	37	chr20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcagagcaatgttacagGccaagggaagaagctttttg	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1299					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						AATGTTACAGGCCAAGGGAAG	0.557			"F, N, Mis"		"MDS, CMML"																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"F, N, Mis"	additional sex combs like 1			L			"MDS, CMML"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3895-3897)gGc>gAc		additional sex combs like 1 (Drosophila)							67	66	66					20																	31024411		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024411G>A	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.3896G>A	20.37:g.31024411G>A	ENSP00000364839:p.Gly1299Asp					ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	p.G1299D	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	4320	+			1299					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3896G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	ASXL1	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC		0.557	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		66	326	0	0	0	1	0	66	326					A	31024411	G	A	31024411	3	1	79	1	0	0	0	0	1	0	0	0	1067	1203	42	2	3952	2	ASXL1	20	31024411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2849	31024411	32001109	20121	30438											
DNMT3B	1789	broad.mit.edu	37	chr20	31380565	31380565	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgagggcctcaaacccaacaAcacgcaaccaggtgggaatg	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31380565A>C	ENST00000328111.2	+	9	1376	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	352					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAACCCAACAACACGCAACCA	0.637																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1054-1056)aAc>aCc		DNA (cytosine-5-)-methyltransferase 3 beta							60	59	59					20																	31380565		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31380565A>C		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1055A>C	20.37:g.31380565A>C	ENSP00000328547:p.Asn352Thr					DNMT3B_ENST00000353855.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000348286.2_Missense_Mutation_p.N352T|DNMT3B_ENST00000443239.3_Missense_Mutation_p.N310T|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000456297.2_Missense_Mutation_p.N276T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.N352T|DNMT3B_ENST00000201963.3_Missense_Mutation_p.N364T	p.N352T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			9	1376	+			352					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1055A>C	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855864	0.32791	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;D;D	0.97161	-4.07;-4.27;-4.21;-4.19;-4.2;-4.09;-4.27	5.34	0.169	0.15017	.	0.310727	0.40144	N	0.001169	D	0.90800	0.7111	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B	0.20052	0.0;0.001;0.041;0.001;0.002;0.001;0.002	B;B;B;B;B;B;B	0.17098	0.001;0.004;0.017;0.006;0.009;0.006;0.003	T	0.80783	-0.1228	10	0.39692	T	0.17	-22.1898	4.1248	0.10123	0.528:0.1768:0.2952:0.0	.	276;310;51;364;352;352;352	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	T	352;438;352;352;310;276;352;364	ENSP00000328547:N352T;ENSP00000313397:N352T;ENSP00000337764:N352T;ENSP00000403169:N310T;ENSP00000412305:N276T;ENSP00000345105:N352T;ENSP00000201963:N364T	ENSP00000201963:N364T	N	+	2	0	DNMT3B	30844226	0.562000	0.26586	1.000000	0.80357	0.974000	0.67602	0.794000	0.26958	0.114000	0.18032	0.459000	0.35465	AAC		0.637	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		57	244	0	0	0	1	0	57	244					C	31380565	A	C	31380565	3	2	79	1	0	0	0	0	1	0	0	0	4693	43	2	4	1125	4	DNMT3B	20	31380565	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	356154	31380565	31644955	20122	30439											
DNMT3B	1789	broad.mit.edu	37	chr20	31387092	31387092	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccattcccgcagcccgaaggCggcccattcgagtcctgtca	10	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31387092C>T	ENST00000328111.2	+	16	2038	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	573					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCGAAGGCGGCCCATTCG	0.582																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1717-1719)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 3 beta							68	58	61					20																	31387092		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31387092C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1717C>T	20.37:g.31387092C>T	ENSP00000328547:p.Arg573Trp					DNMT3B_ENST00000353855.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R553W|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R511W|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R477W|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R553W|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R565W	p.R573W	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			16	2038	+			573					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1717C>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238001	0.79800	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.97	2.59	0.31030	.	0.057019	0.64402	D	0.000002	D	0.86615	0.5975	M	0.74258	2.255	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	0.87578	0.987;0.995;0.995;0.998;0.998;0.998;0.977	D	0.88022	0.2769	10	0.87932	D	0	-19.9396	14.2197	0.65818	0.5264:0.4736:0.0:0.0	.	477;511;272;565;553;553;573	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	W	573;553;553;511;477;553;565	ENSP00000328547:R573W;ENSP00000313397:R553W;ENSP00000337764:R553W;ENSP00000403169:R511W;ENSP00000412305:R477W;ENSP00000345105:R553W;ENSP00000201963:R565W	ENSP00000201963:R565W	R	+	1	2	DNMT3B	30850753	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	0.554000	0.23407	0.800000	0.34041	-0.169000	0.13324	CGG		0.582	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		15	82	0	0	0	1	0	15	82					T	31387092	C	T	31387092	3	4	79	1	0	0	0	0	1	0	0	0	4693	759	27	1	1815	1	DNMT3B	20	31387092	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6527	31387092	31638428	20123	30440											
MAPRE1	22919	broad.mit.edu	37	chr20	31413783	31413783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaccagtgataacctaagtcGacatgacatgctggcctgga	11	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31413783G>A	ENST00000375571.5	+	2	189	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	17	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AACCTAAGTCGACATGACATG	0.443																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(49-51)cGa>cAa		microtubule-associated protein, RP/EB family, member 1							164	136	146					20																	31413783		2203	4300	6503	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31413783G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.50G>A	20.37:g.31413783G>A	ENSP00000364721:p.Arg17Gln						p.R17Q	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			2	189	+			17			CH.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.50G>A	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996251	0.74818	.	.	ENSG00000101367	ENST00000375571	T	0.51574	0.7	5.76	4.82	0.62117	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	H	0.97051	3.93	0.80722	D	1	B	0.27791	0.189	B	0.14578	0.011	T	0.69379	-0.5161	10	0.72032	D	0.01	-1.0811	13.9326	0.64006	0.0725:0.0:0.9275:0.0	.	17	Q15691	MARE1_HUMAN	Q	17	ENSP00000364721:R17Q	ENSP00000364721:R17Q	R	+	2	0	MAPRE1	30877444	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.886000	0.87288	1.431000	0.47355	-0.140000	0.14226	CGA		0.443	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		93	386	0	0	0	1	0	93	386					A	31413783	G	A	31413783	3	1	79	1	0	0	0	0	1	0	0	0	9335	1058	37	1	52	1	MAPRE1	20	31413783	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26691	31413783	31611737	20124	30441											
MAPRE1	22919	broad.mit.edu	37	chr20	31424452	31424452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgcagataattcctgtgGacaaattagtaaaaggaaag	9	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31424452G>A	ENST00000375571.5	+	4	419	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	94	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AATTCCTGTGGACAAATTAGT	0.363																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(280-282)Gac>Aac		microtubule-associated protein, RP/EB family, member 1							44	46	45					20																	31424452		2203	4299	6502	SO:0001583	missense	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31424452G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.280G>A	20.37:g.31424452G>A	ENSP00000364721:p.Asp94Asn						p.D94N	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			4	419	+			94			CH.		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	ENST00000375571.5	37	c.280G>A	CCDS13208.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138938	0.94560	.	.	ENSG00000101367	ENST00000375571	D	0.94931	-3.56	4.45	4.45	0.53987	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.94991	0.8379	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.94204	0.7452	10	0.35671	T	0.21	-11.7265	16.6237	0.84936	0.0:0.0:1.0:0.0	.	94	Q15691	MARE1_HUMAN	N	94	ENSP00000364721:D94N	ENSP00000364721:D94N	D	+	1	0	MAPRE1	30888113	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.422000	0.97458	2.465000	0.83290	0.655000	0.94253	GAC		0.363	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		41	230	0	0	0	1	0	41	230					A	31424452	G	A	31424452	3	1	79	1	0	0	0	0	1	0	0	0	9335	1174	41	2	290	2	MAPRE1	20	31424452	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10669	31424452	31601068	20125	30442											
MAPRE1	22919	broad.mit.edu	37	chr20	31434492	31434492	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctacttcggaaagctacgGaacattgaattgatttgcca	8	8	1	2	rs139716054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31434492G>A	ENST00000375571.5	+	6	805	c.666G>A	c.(664-666)cgG>cgA	p.R222R	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	222	APC-binding.|DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAAGCTACGGAACATTGAAT	0.423																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(664-666)cgG>cgA		microtubule-associated protein, RP/EB family, member 1							181	171	174					20																	31434492		2203	4300	6503	SO:0001819	synonymous_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31434492G>A	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.666G>A	20.37:g.31434492G>A						RP5-1085F17.4_ENST00000565572.1_RNA	p.R222R	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			6	805	+			222			APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.		B2R6I7|E1P5M8|Q3KQS8	Silent	SNP	ENST00000375571.5	37	c.666G>A	CCDS13208.1																																																																																				0.423	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		165	704	0	0	0	1	0	165	704					A	31434492	G	A	31434492	2	1	79	1	0	0	0	0	0	0	0	1	9335	1161	41	2		2	MAPRE1	20	31434492	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10040	31434492	31591028	20126	30443											
BPIL1	80341	broad.mit.edu	37	chr20	31606506	31606506	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgccaccccttttgtgttgCcaaggcatgtgggtaccgag	12	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31606506C>T	ENST00000170150.3	+	9	928	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	245						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TTTTGTGTTGCCAAGGCATGT	0.627																																						ENST00000170150.3																			0											c.(733-735)Cca>Tca		BPI fold containing family B, member 2							127	123	124					20																	31606506		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31606506C>T	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.733C>T	20.37:g.31606506C>T	ENSP00000170150:p.Pro245Ser						p.P245S	NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN			9	928	+			245					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.733C>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714973	0.68844	.	.	ENSG00000078898	ENST00000170150	T	0.09630	2.96	5.13	5.13	0.70059	.	0.000000	0.52532	D	0.000066	T	0.37156	0.0993	M	0.86028	2.79	0.44214	D	0.997043	D	0.89917	1.0	D	0.91635	0.999	T	0.22730	-1.0208	10	0.66056	D	0.02	-10.9098	14.4292	0.67238	0.0:1.0:0.0:0.0	.	245	Q8N4F0	BPIB2_HUMAN	S	245	ENSP00000170150:P245S	ENSP00000170150:P245S	P	+	1	0	BPIFB2	31070167	0.996000	0.38824	0.472000	0.27241	0.002000	0.02628	3.683000	0.54663	2.540000	0.85666	0.561000	0.74099	CCA		0.627	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		152	729	0	0	0	1	0	152	729					T	31606506	C	T	31606506	3	4	79	1	0	0	0	0	1	0	0	0	1495	739	26	2	763	2	BPIL1	20	31606506	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172014	31606506	31419014	20127	30444											
BPIL3	128859	broad.mit.edu	37	chr20	31627288	31627288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgttcgcagctcggtggCggagcaaggctccaatgtcc	14	11	0	1	rs550355845		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31627288C>T	ENST00000349552.1	+	10	1036	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	346						extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGCTCGGTGGCGGAGCAAGGC	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20239	0.0		0.0	False		,,,				2504	0.0					ENST00000349552.1																			0											c.(1036-1038)Cgg>Tgg		BPI fold containing family B, member 6							107	114	111					20																	31627288		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31627288C>T	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.1036C>T	20.37:g.31627288C>T	ENSP00000344929:p.Arg346Trp						p.R346W	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			10	1036	+			346						Missense_Mutation	SNP	ENST00000349552.1	37	c.1036C>T	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017659	0.35606	.	.	ENSG00000167104	ENST00000349552	T	0.07444	3.19	4.21	0.996	0.19844	.	1.381150	0.04935	N	0.457659	T	0.26231	0.0640	M	0.63428	1.95	0.09310	N	1	D	0.76494	0.999	D	0.65987	0.94	T	0.30149	-0.9988	10	0.72032	D	0.01	.	11.4879	0.50365	0.4903:0.5097:0.0:0.0	.	346	Q8NFQ5	BPIB6_HUMAN	W	346	ENSP00000344929:R346W	ENSP00000344929:R346W	R	+	1	2	BPIFB6	31090949	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	1.131000	0.31406	-0.207000	0.10187	-1.473000	0.01005	CGG		0.532	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		123	592	0	0	0	1	0	123	592					T	31627288	C	T	31627288	3	4	79	1	0	0	0	0	1	0	0	0	1497	759	27	1	1074	1	BPIL3	20	31627288	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20782	31627288	31398232	20128	30445											
PLUNC	51297	broad.mit.edu	37	chr20	31825910	31825910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgggcattctggaaaaCcttccgctcctggacatcct	9	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31825910C>A	ENST00000354297.4	+	3	281	c.210C>A	c.(208-210)aaC>aaA	p.N70K	BPIFA1_ENST00000375413.4_Missense_Mutation_p.N70K|BPIFA1_ENST00000375422.2_Missense_Mutation_p.N70K	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	70					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TTCTGGAAAACCTTCCGCTCC	0.562																																						ENST00000354297.4																			0											c.(208-210)aaC>aaA		BPI fold containing family A, member 1							64	63	63					20																	31825910		2203	4300	6503	SO:0001583	missense	51297				innate immune response	extracellular region	lipid binding	g.chr20:31825910C>A	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.210C>A	20.37:g.31825910C>A	ENSP00000346251:p.Asn70Lys					BPIFA1_ENST00000375413.4_Missense_Mutation_p.N70K|BPIFA1_ENST00000375422.2_Missense_Mutation_p.N70K	p.N70K	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN			3	281	+			70					A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	37	c.210C>A	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	C	1.763	-0.486228	0.04352	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.04917	3.53;3.53;3.53	5.43	0.147	0.14838	.	0.239859	0.37178	N	0.002212	T	0.09158	0.0226	L	0.43757	1.38	0.09310	N	1	D	0.58620	0.983	P	0.55713	0.782	T	0.28522	-1.0041	10	0.19590	T	0.45	-3.8418	7.8487	0.29442	0.0:0.5526:0.0:0.4474	.	70	Q9NP55	BPIA1_HUMAN	K	70;70;70;56	ENSP00000364571:N70K;ENSP00000346251:N70K;ENSP00000364562:N70K	ENSP00000346251:N70K	N	+	3	2	BPIFA1	31289571	0.049000	0.20398	0.012000	0.15200	0.003000	0.03518	-0.606000	0.05654	0.126000	0.18424	-0.140000	0.14226	AAC		0.562	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852		61	258	1	0	1.95512e-22	1	2.21276e-22	61	258					A	31825910	C	A	31825910	3	1	79	1	0	0	0	0	1	0	0	0	12157	506	18	3	216	3	PLUNC	20	31825910	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198622	31825910	31199610	20129	30446											
C20orf114	92747	broad.mit.edu	37	chr20	31885345	31885345	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcagctgtgtcccgtgatCgaggcttccttcaatggcat	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31885345C>T	ENST00000253354.1	+	7	773	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	204					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GTCCCGTGATCGAGGCTTCCT	0.602																																						ENST00000253354.1																			0											c.(610-612)atC>atT		BPI fold containing family B, member 1							202	164	177					20																	31885345		2203	4300	6503	SO:0001819	synonymous_variant	92747					extracellular space	lipid binding	g.chr20:31885345C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.612C>T	20.37:g.31885345C>T							p.I204I	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN			7	773	+			204					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Silent	SNP	ENST00000253354.1	37	c.612C>T	CCDS13218.1																																																																																				0.602	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197		52	522	0	0	0	1	0	52	522					T	31885345	C	T	31885345	2	4	79	1	0	0	0	0	0	0	0	1	2089	874	31	1		1	C20orf114	20	31885345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59435	31885345	31140175	20130	30447											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31973465	31973465	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaactcttcacctgctcagaAagcttcttcacttcctctag	5	14	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31973465A>G	ENST00000357886.4	-	7	1020	c.867T>C	c.(865-867)ctT>ctC	p.L289L	CDK5RAP1_ENST00000473997.1_Silent_p.L199L|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000346416.2_Silent_p.L289L|CDK5RAP1_ENST00000339269.5_Silent_p.L289L			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	289					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						CCTGCTCAGAAAGCTTCTTCA	0.498																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(865-867)ctT>ctC		CDK5 regulatory subunit associated protein 1							109	103	105					20																	31973465		2203	4300	6503	SO:0001819	synonymous_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31973465A>G	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.867T>C	20.37:g.31973465A>G						CDK5RAP1_ENST00000346416.2_Silent_p.L289L|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.L289L|CDK5RAP1_ENST00000544843.1_Silent_p.L289L|CDK5RAP1_ENST00000452723.3_Silent_p.L199L	p.L289L			Q96SZ6	CK5P1_HUMAN			7	1020	-			289					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37	c.867T>C																																																																																					0.498	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		42	390	0	0	0	1	0	42	390					G	31973465	A	G	31973465	2	3	79	1	0	0	0	0	0	0	0	1	3154	1	1	4		4	CDK5RAP1	20	31973465	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	88120	31973465	31052055	20131	30448											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31979986	31979986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacccgggagcggggcCgccttgtcttcaaggcttta	15	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31979986C>T	ENST00000357886.4	-	5	659	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R79Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	169	MTTase N-terminal.				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						GGAGCGGGGCCGCCTTGTCTT	0.458																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(505-507)cGg>cAg		CDK5 regulatory subunit associated protein 1							83	87	86					20																	31979986		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31979986C>T	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.506G>A	20.37:g.31979986C>T	ENSP00000350558:p.Arg169Gln					CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R169Q|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R79Q	p.R169Q			Q96SZ6	CK5P1_HUMAN			5	659	-			169			MTTase N-terminal.		A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.506G>A		.	.	.	.	.	.	.	.	.	.	C	24.1	4.491772	0.84962	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000375351;ENST00000544843	.	.	.	5.19	5.19	0.71726	Methylthiotransferase, N-terminal (2);	0.110167	0.64402	D	0.000013	T	0.81245	0.4782	M	0.84773	2.715	0.58432	D	0.999993	B;D;P;P;P;D;P	0.89917	0.256;1.0;0.955;0.955;0.955;0.976;0.857	B;D;B;B;B;B;B	0.83275	0.232;0.996;0.427;0.427;0.427;0.301;0.197	D	0.83688	0.0175	9	0.66056	D	0.02	-18.9715	16.238	0.82389	0.0:1.0:0.0:0.0	.	169;169;169;169;169;169;79	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	169;169;169;79;59;169	.	ENSP00000341840:R169Q	R	-	2	0	CDK5RAP1	31443647	1.000000	0.71417	0.887000	0.34795	0.970000	0.65996	5.288000	0.65651	2.702000	0.92279	0.591000	0.81541	CGG		0.458	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		70	422	0	0	0	1	0	70	422					T	31979986	C	T	31979986	3	4	79	1	0	0	0	0	1	0	0	0	3154	652	23	1	1297	1	CDK5RAP1	20	31979986	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6521	31979986	31045534	20132	30449											
SNTA1	6640	broad.mit.edu	37	chr20	32005695	32005695	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggtcccaccagtagagttCttgaaatacggtgagacgtc	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32005695C>A	ENST00000217381.2	-	3	802	c.531G>T	c.(529-531)aaG>aaT	p.K177N		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	177	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						CAGTAGAGTTCTTGAAATACG	0.567																																						ENST00000217381.2																			0				breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						c.(529-531)aaG>aaT		syntrophin, alpha 1							90	89	90					20																	32005695		2203	4300	6503	SO:0001583	missense	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32005695C>A	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.531G>T	20.37:g.32005695C>A	ENSP00000217381:p.Lys177Asn						p.K177N	NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN			3	802	-			177			PH 1.		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	ENST00000217381.2	37	c.531G>T	CCDS13220.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196233	0.78902	.	.	ENSG00000101400	ENST00000217381	T	0.59772	0.24	5.71	5.71	0.89125	PDZ/DHR/GLGF (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	L	0.49778	1.585	0.58432	D	0.999997	D;D	0.89917	0.998;1.0	D;D	0.87578	0.994;0.998	T	0.72121	-0.4386	10	0.87932	D	0	-9.7851	13.7535	0.62921	0.0:0.9258:0.0:0.0742	.	177;177	B4DX40;Q13424	.;SNTA1_HUMAN	N	177	ENSP00000217381:K177N	ENSP00000217381:K177N	K	-	3	2	SNTA1	31469356	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.618000	0.46393	2.694000	0.91930	0.655000	0.94253	AAG		0.567	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		77	340	1	0	2.72187e-29	1	3.17825e-29	77	340					A	32005695	C	A	32005695	3	1	79	1	0	0	0	0	1	0	0	0	14921	912	32	3	1010	3	SNTA1	20	32005695	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25709	32005695	31019825	20133	30450											
CBFA2T2	9139	broad.mit.edu	37	chr20	32199034	32199034	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgccagccacttgtggtgctCgacaactcagcaagttgaaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	ENST00000346541.3	+	4	877	c.340C>T	c.(340-342)Cga>Tga	p.R114*	CBFA2T2_ENST00000492345.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TTGTGGTGCTCGACAACTCAG	0.517																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(340-342)Cga>Tga		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							183	156	165					20																	32199034		2203	4300	6503	SO:0001587	stop_gained	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32199034C>T	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.340C>T	20.37:g.32199034C>T	ENSP00000262653:p.Arg114*					CBFA2T2_ENST00000342704.5_Nonsense_Mutation_p.R105*|CBFA2T2_ENST00000397798.2_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.R124*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000344201.3_Nonsense_Mutation_p.R85*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.R114*	p.R114*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			4	877	+			114			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Nonsense_Mutation	SNP	ENST00000346541.3	37	c.340C>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	40	8.059881	0.98632	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	.	.	.	5.54	3.5	0.40072	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3704	13.1758	0.59626	0.42:0.58:0.0:0.0	.	.	.	.	X	114;105;105;85;114;85;85;124	.	ENSP00000345810:R105X	R	+	1	2	CBFA2T2	31662695	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	1.525000	0.35953	0.614000	0.30107	0.655000	0.94253	CGA		0.517	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		126	536	0	0	0	1	0	126	536					T	32199034	C	T	32199034	4	4	79	1	0	0	0	0	0	1	0	0	2704	876	31	1	388	1	CBFA2T2	20	32199034	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	193339	32199034	30826486	20134	30451											
CBFA2T2	9139	broad.mit.edu	37	chr20	32212656	32212656	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catcagccctgctcctcggcAcagtcctgctctcactgtgc	8	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	ENST00000346541.3	+	7	1343	c.806A>G	c.(805-807)cAc>cGc	p.H269R	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.H260R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	269					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						GCTCCTCGGCACAGTCCTGCT	0.507																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(805-807)cAc>cGc		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							122	101	108					20																	32212656		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32212656A>G	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.806A>G	20.37:g.32212656A>G	ENSP00000262653:p.His269Arg					CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.H260R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.H279R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.H240R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.H269R	p.H269R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			7	1343	+			269					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.806A>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758999	0.49468	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45668	0.89;0.9;0.89;0.9;1.49	5.83	5.83	0.93111	.	0.046008	0.85682	D	0.000000	T	0.61527	0.2354	L	0.57536	1.79	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.77557	0.977;0.99	T	0.61724	-0.7004	10	0.51188	T	0.08	-6.2373	16.2005	0.82071	1.0:0.0:0.0:0.0	.	269;260	O43439;F8W6D7	MTG8R_HUMAN;.	R	43;269;260;269;240;279	ENSP00000364428:H269R;ENSP00000345810:H260R;ENSP00000262653:H269R;ENSP00000380902:H240R;ENSP00000352622:H279R	ENSP00000345810:H260R	H	+	2	0	CBFA2T2	31676317	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	8.962000	0.93254	2.227000	0.72691	0.528000	0.53228	CAC		0.507	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		86	386	0	0	0	1	0	86	386					G	32212656	A	G	32212656	3	3	79	1	0	0	0	0	1	0	0	0	2704	159	6	4	866	4	CBFA2T2	20	32212656	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	13622	32212656	30812864	20135	30452											
CBFA2T2	9139	broad.mit.edu	37	chr20	32212784	32212784	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcgggaacccaacaagatgCtagagcatcgagaagttcgt	11	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	ENST00000346541.3	+	7	1471	c.934C>A	c.(934-936)Cta>Ata	p.L312I	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L303I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I	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)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(934-936)Cta>Ata		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							93	79	84					20																	32212784		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32212784C>A	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>A	20.37:g.32212784C>A	ENSP00000262653:p.Leu312Ile					CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.L303I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L322I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L283I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L312I	p.L312I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			7	1471	+			312					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.934C>A	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984649	0.35036	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.45276	0.9;0.91;0.9;0.9;1.49	5.73	0.186	0.15105	.	0.492494	0.21336	N	0.076220	T	0.14570	0.0352	N	0.08118	0	0.49051	D	0.999741	P;P	0.41848	0.651;0.763	B;B	0.36845	0.212;0.234	T	0.12041	-1.0563	10	0.22109	T	0.4	-5.9758	1.2921	0.02062	0.3155:0.3121:0.2058:0.1666	.	312;303	O43439;F8W6D7	MTG8R_HUMAN;.	I	86;312;303;312;283;322	ENSP00000364428:L312I;ENSP00000345810:L303I;ENSP00000262653:L312I;ENSP00000380902:L283I;ENSP00000352622:L322I	ENSP00000345810:L303I	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		0.473	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		58	221	1	0	4.60343e-24	1	5.25135e-24	58	221					A	32212784	C	A	32212784	3	1	79	1	0	0	0	0	1	0	0	0	2704	796	28	3	994	3	CBFA2T2	20	32212784	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128	32212784	30812736	20136	30453											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232319	32232319	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagggccggccgctgcttcCtgtaggcaggggctcctctg	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	ENST00000346541.3	+	12	2219	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P552R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	561					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						CCGCTGCTTCCTGTAGGCAGG	0.677																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1681-1683)cCt>cGt		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							49	52	51					20																	32232319		2203	4298	6501	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232319C>G	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.1682C>G	20.37:g.32232319C>G	ENSP00000262653:p.Pro561Arg					CBFA2T2_ENST00000342704.5_Missense_Mutation_p.P552R|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.P109R|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.P571R|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.P532R|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.P561R	p.P561R	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			12	2219	+			561					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1682C>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095074	0.56075	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.46819	0.87;0.86;0.87;0.87;1.47	5.88	5.88	0.94601	.	0.105066	0.64402	D	0.000003	T	0.33059	0.0850	N	0.08118	0	0.58432	D	0.999995	P;P	0.48016	0.904;0.688	B;B	0.40534	0.243;0.332	T	0.23190	-1.0195	10	0.42905	T	0.14	0.0038	20.2422	0.98381	0.0:1.0:0.0:0.0	.	561;552	O43439;F8W6D7	MTG8R_HUMAN;.	R	335;561;552;561;532;571;109	ENSP00000364428:P561R;ENSP00000345810:P552R;ENSP00000262653:P561R;ENSP00000380902:P532R;ENSP00000352622:P571R	ENSP00000345810:P552R	P	+	2	0	CBFA2T2	31695980	0.981000	0.34729	1.000000	0.80357	0.698000	0.40448	5.354000	0.66040	2.782000	0.95742	0.655000	0.94253	CCT		0.677	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		110	428	0	0	0	1	0	110	428					G	32232319	C	G	32232319	3	3	79	1	0	0	0	0	1	0	0	0	2704	681	24	5	1762	5	CBFA2T2	20	32232319	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19535	32232319	30793201	20137	30454											
ZNF341	84905	broad.mit.edu	37	chr20	32333101	32333101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaactcctgccaatcGccaggtatttgttcatttat	7	13	1	0	rs376738185		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32333101G>A	ENST00000375200.1	+	3	700	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						CCTGCCAATCGCCAGGTATTT	0.547																																						ENST00000375200.1																			0				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						c.(334-336)cGc>cAc		zinc finger protein 341							30	32	32					20																	32333101		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32333101G>A	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.335G>A	20.37:g.32333101G>A	ENSP00000364346:p.Arg112His					ZNF341_ENST00000342427.2_Missense_Mutation_p.R112H	p.R112H			Q9BYN7	ZN341_HUMAN			3	700	+			112					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.363913	0.82353	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.11169	3.08;2.8	5.58	5.58	0.84498	.	0.218649	0.42053	D	0.000766	T	0.18299	0.0439	N	0.17082	0.46	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.19095	-1.0316	10	0.17369	T	0.5	-29.7316	17.3441	0.87305	0.0:0.0:1.0:0.0	.	112;112	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	H	112	ENSP00000344308:R112H;ENSP00000364346:R112H	ENSP00000344308:R112H	R	+	2	0	ZNF341	31796762	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.325000	0.90007	2.638000	0.89438	0.563000	0.77884	CGC		0.547	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				41	171	0	0	0	1	0	41	171					A	32333101	G	A	32333101	3	1	79	1	0	0	0	0	1	0	0	0	17910	1087	38	1	345	1	ZNF341	20	32333101	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	100782	32333101	30692419	20138	30455											
AHCY	191	broad.mit.edu	37	chr20	32879233	32879233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcggctcaccttggtgaCggagtcattgacattgatgg	12	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32879233C>T	ENST00000217426.2	-	5	627	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	AHCY_ENST00000468908.1_5'Flank|AHCY_ENST00000538132.1_Missense_Mutation_p.V156I	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	184					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						ACCTTGGTGACGGAGTCATTG	0.582																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(466-468)Gtc>Atc		adenosylhomocysteinase							141	124	130					20																	32879233		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32879233C>T	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.550G>A	20.37:g.32879233C>T	ENSP00000217426:p.Val184Ile					AHCY_ENST00000217426.2_Missense_Mutation_p.V184I	p.V156I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			5	852	-			184					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.466G>A	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022397	0.75275	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.81821	-1.54;-1.54	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	L	0.42744	1.35	0.80722	D	1	B	0.23058	0.079	B	0.20577	0.03	T	0.74645	-0.3596	10	0.87932	D	0	.	19.3338	0.94306	0.0:1.0:0.0:0.0	.	184	P23526	SAHH_HUMAN	I	184;156	ENSP00000217426:V184I;ENSP00000442820:V156I	ENSP00000217426:V184I	V	-	1	0	AHCY	32342894	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.986000	0.70563	2.639000	0.89480	0.561000	0.74099	GTC		0.582	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		80	417	0	0	0	1	0	80	417					T	32879233	C	T	32879233	3	4	79	1	0	0	0	0	1	0	0	0	409	536	19	1	772	1	AHCY	20	32879233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	546132	32879233	30146287	20139	30456											
AHCY	191	broad.mit.edu	37	chr20	32883326	32883326	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcccgcatacgcatcaGgcccggcatctcgttctcag	9	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32883326G>T	ENST00000217426.2	-	2	171	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000538132.1_Missense_Mutation_p.L4M	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	32					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						ATACGCATCAGGCCCGGCATC	0.652																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(10-12)Ctg>Atg		adenosylhomocysteinase							37	33	34					20																	32883326		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32883326G>T	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.94C>A	20.37:g.32883326G>T	ENSP00000217426:p.Leu32Met					AHCY_ENST00000468908.1_5'UTR|AHCY_ENST00000217426.2_Missense_Mutation_p.L32M	p.L4M	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			2	396	-			32					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.10C>A	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	g	16.51	3.142990	0.57044	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.83673	-1.75;-1.75	4.96	0.755	0.18415	.	0.000000	0.85682	D	0.000000	D	0.90393	0.6993	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88632	0.3170	10	0.87932	D	0	.	9.1209	0.36786	0.3722:0.0:0.6278:0.0	.	4;32	B3KUN3;P23526	.;SAHH_HUMAN	M	32;4	ENSP00000217426:L32M;ENSP00000442820:L4M	ENSP00000217426:L32M	L	-	1	2	AHCY	32346987	1.000000	0.71417	0.991000	0.47740	0.440000	0.31957	3.479000	0.53165	-0.018000	0.14079	-0.355000	0.07637	CTG		0.652	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		39	165	1	0	5.43694e-19	1	6.05247e-19	39	165					T	32883326	G	T	32883326	3	4	79	1	0	0	0	0	1	0	0	0	409	991	35	3	1240	3	AHCY	20	32883326	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4093	32883326	30142194	20140	30457											
ITCH	83737	broad.mit.edu	37	chr20	33045246	33045246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcgtcaaccacaacacacGaattacacaatgggaagacc	6	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33045246G>A	ENST00000262650.6	+	14	1521	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.R421Q|ITCH-IT1_ENST00000418598.1_RNA			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	462	Required for interaction with FYN.|WW 3. {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						CACAACACACGAATTACACAA	0.398																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1261-1263)cGa>cAa		itchy E3 ubiquitin protein ligase							87	74	79					20																	33045246		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33045246G>A	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.1385G>A	20.37:g.33045246G>A	ENSP00000262650:p.Arg462Gln					ITCH_ENST00000535650.1_Missense_Mutation_p.R311Q|ITCH_ENST00000262650.6_Missense_Mutation_p.R462Q|ITCH_ENST00000483727.1_3'UTR	p.R421Q	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			13	1475	+			462			Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1262G>A	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.899721	0.97081	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	D;D;D	0.82893	-1.66;-1.66;-1.66	5.73	5.73	0.89815	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.984	D;D;P	0.72982	0.979;0.962;0.882	D	0.90880	0.4753	10	0.87932	D	0	.	19.4831	0.95018	0.0:0.0:1.0:0.0	.	373;462;421	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	Q	421;311;462	ENSP00000363998:R421Q;ENSP00000445608:R311Q;ENSP00000262650:R462Q	ENSP00000262650:R462Q	R	+	2	0	ITCH	32508907	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.804000	0.99143	2.720000	0.93068	0.591000	0.81541	CGA		0.398	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			28	107	0	0	0	1	0	28	107					A	33045246	G	A	33045246	3	1	79	1	0	0	0	0	1	0	0	0	7898	1058	37	1	1304	1	ITCH	20	33045246	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161920	33045246	29980274	20141	30458											
ITCH	83737	broad.mit.edu	37	chr20	33057852	33057852	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaacccttgttcttcctcaGagacaatggacctcagatag	7	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	ENST00000262650.6	+	16	1683		c.e16-1		ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000483727.1_Splice_Site|ITCH_ENST00000374864.4_Splice_Site			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase						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						TTCTTCCTCAGAGACAATGGA	0.423																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.e15-1		itchy E3 ubiquitin protein ligase							223	211	215					20																	33057852		2203	4300	6503	SO:0001630	splice_region_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33057852G>A	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.1548-1G>A	20.37:g.33057852G>A						ITCH_ENST00000535650.1_Splice_Site|ITCH_ENST00000262650.6_Splice_Site|ITCH_ENST00000483727.1_Splice_Site		NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			15	1637	+								A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Splice_Site	SNP	ENST00000262650.6	37		CCDS58768.1	.	.	.	.	.	.	.	.	.	.	G	31	5.080202	0.94050	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITCH	32521513	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.471000	0.97696	2.885000	0.99019	0.655000	0.94253	.		0.423	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2		Intron	123	620	0	0	0	1	0	123	620					A	33057852	G	A	33057852	5	1	79	1	0	0	0	0	0	0	1	0	7898	956	33	2	1474	2	ITCH	20	33057852	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12606	33057852	29967668	20142	30459											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147545	33147545	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgccggctgcaggcgccGcctgcagctgaaccccacgc	12	20	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33147545G>A	ENST00000360668.3	+	4	970	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	70					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGCAGGCGCCGCCTGCAGCTG	0.627																																						ENST00000360668.3																			0				cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						c.(208-210)cGc>cAc		microtubule-associated protein 1 light chain 3 alpha							31	40	37					20																	33147545		2195	4294	6489	SO:0001583	missense	84557				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	g.chr20:33147545G>A		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.209G>A	20.37:g.33147545G>A	ENSP00000353886:p.Arg70His					MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.R74H|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.R70H|MAP1LC3A_ENST00000476428.1_3'UTR	p.R70H			Q9H492	MLP3A_HUMAN			4	970	+			70					E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	c.209G>A	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479684	0.84747	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.60797	0.16;0.16;0.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	M	0.72118	2.19	0.80722	D	1	B;D	0.76494	0.327;0.999	B;P	0.61477	0.187;0.889	T	0.76852	-0.2806	10	0.66056	D	0.02	-7.2633	18.3968	0.90502	0.0:0.0:1.0:0.0	.	70;74	Q9H492;Q9H492-2	MLP3A_HUMAN;.	H	74;70;70	ENSP00000363970:R74H;ENSP00000353886:R70H;ENSP00000380821:R70H	ENSP00000353886:R70H	R	+	2	0	MAP1LC3A	32611206	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.774000	0.98992	2.434000	0.82447	0.313000	0.20887	CGC		0.627	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		118	465	0	0	0	1	0	118	465					A	33147545	G	A	33147545	3	1	79	1	0	0	0	0	1	0	0	0	9271	1087	38	1	279	1	MAP1LC3A	20	33147545	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89693	33147545	29877975	20143	30460											
TP53INP2	58476	broad.mit.edu	37	chr20	33296666	33296666	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcatcattgacctgccGggtgaggcctgggtctgtct	14	11	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	ENST00000374810.3	+	3	512	c.123G>A	c.(121-123)ccG>ccA	p.P41P	TP53INP2_ENST00000374809.2_Splice_Site_p.P41P|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	41					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						TTGACCTGCCGGGTGAGGCCT	0.667																																						ENST00000374810.3																			0				endometrium(1)|urinary_tract(1)	2						c.e3+1		tumor protein p53 inducible nuclear protein 2							40	40	40					20																	33296666		2202	4300	6502	SO:0001630	splice_region_variant	58476					nucleus		g.chr20:33296666G>A	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"diabetes and obesity regulated"		"chromosome 20 open reading frame 110"	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.124+1G>A	20.37:g.33296666G>A						TP53INP2_ENST00000374809.2_Splice_Site_p.P41_splice|NCOA6_ENST00000593786.1_Intron	p.P41_splice	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN			3	512	+			41					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Splice_Site	SNP	ENST00000374810.3	37	c.124_splice	CCDS13240.1																																																																																				0.667	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202	Silent	39	154	0	0	0	1	0	39	154					A	33296666	G	A	33296666	5	1	79	1	0	0	0	0	0	0	1	0	16442	1130	39	1	125	1	TP53INP2	20	33296666	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149121	33296666	29728854	20144	30461											
TP53INP2	58476	broad.mit.edu	37	chr20	33298084	33298084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagcagcttcatctaccaGccgtgccagcgccagttcaa	9	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33298084G>A	ENST00000374810.3	+	5	1025	c.636G>A	c.(634-636)caG>caA	p.Q212Q	TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	212					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						TCATCTACCAGCCGTGCCAGC	0.697																																						ENST00000374810.3																			0				endometrium(1)|urinary_tract(1)	2						c.(634-636)caG>caA		tumor protein p53 inducible nuclear protein 2							23	22	22					20																	33298084		2203	4297	6500	SO:0001819	synonymous_variant	58476					nucleus		g.chr20:33298084G>A	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"diabetes and obesity regulated"		"chromosome 20 open reading frame 110"	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.636G>A	20.37:g.33298084G>A						TP53INP2_ENST00000374809.2_Silent_p.Q212Q|NCOA6_ENST00000593786.1_Intron	p.Q212Q	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN			5	1025	+			212					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Silent	SNP	ENST00000374810.3	37	c.636G>A	CCDS13240.1																																																																																				0.697	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2	NM_021202		17	65	0	0	0	1	0	17	65					A	33298084	G	A	33298084	2	1	79	1	0	0	0	0	0	0	0	1	16442	962	34	2		2	TP53INP2	20	33298084	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1418	33298084	29727436	20145	30462											
NCOA6	23054	broad.mit.edu	37	chr20	33330454	33330454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctagatgtctgggttggCgcagccacatttgggaagtg	16	8	1	1	rs372455229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330454C>T	ENST00000374796.2	-	12	6176	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	NCOA6_ENST00000359003.2_Silent_p.A1202A			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1202	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						TCTGGGTTGGCGCAGCCACAT	0.577																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3604-3606)gcG>gcA		nuclear receptor coactivator 6		C	,	0,4406		0,0,2203	105	112	110		,3606	-6.1	1	20		110	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	NCOA6	NM_001242539.1,NM_014071.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,1202/2064	33330454	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330454C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3606G>A	20.37:g.33330454C>T						NCOA6_ENST00000359003.2_Silent_p.A1202A	p.A1202A			Q14686	NCOA6_HUMAN			12	6176	-			1202			NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.3606G>A	CCDS13241.1																																																																																				0.577	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		65	664	0	0	0	1	0	65	664					T	33330454	C	T	33330454	2	4	79	1	0	0	0	0	0	0	0	1	10275	755	27	1		1	NCOA6	20	33330454	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32370	33330454	29695066	20146	30463											
NCOA6	23054	broad.mit.edu	37	chr20	33330933	33330933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaagcctaactgatttggGatcctgctgcatcatgagca	11	9	1	2	rs142432255		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330933G>A	ENST00000374796.2	-	12	5697	c.3127C>T	c.(3127-3129)Ccc>Tcc	p.P1043S	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1043S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1043	CREBBP-binding region.|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						ACTGATTTGGGATCCTGCTGC	0.562																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(3127-3129)Ccc>Tcc		nuclear receptor coactivator 6							134	128	130					20																	33330933		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330933G>A	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.3127C>T	20.37:g.33330933G>A	ENSP00000363929:p.Pro1043Ser					NCOA6_ENST00000359003.2_Missense_Mutation_p.P1043S	p.P1043S			Q14686	NCOA6_HUMAN			12	5697	-			1043			CREBBP-binding region.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.3127C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451681	0.26074	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23348	1.91;1.91	5.82	5.82	0.92795	.	0.202921	0.35407	N	0.003237	T	0.14056	0.0340	N	0.08118	0	0.40692	D	0.982402	B	0.14805	0.011	B	0.10450	0.005	T	0.09618	-1.0666	10	0.38643	T	0.18	-6.5654	11.5343	0.50628	0.0691:0.1266:0.8043:0.0	.	1043	Q14686	NCOA6_HUMAN	S	1043	ENSP00000363929:P1043S;ENSP00000351894:P1043S	ENSP00000351894:P1043S	P	-	1	0	NCOA6	32794594	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.148000	0.58085	2.756000	0.94617	0.563000	0.77884	CCC		0.562	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		22	822	0	0	0	1	0	22	822					A	33330933	G	A	33330933	3	1	79	1	0	0	0	0	1	0	0	0	10275	1174	41	2	3084	2	NCOA6	20	33330933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	479	33330933	29694587	20147	30464											
NCOA6	23054	broad.mit.edu	37	chr20	33345486	33345486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcttgcctggagttgCtgttgcattgggccgggcaa	16	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345486C>T	ENST00000374796.2	-	8	3635	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NCOA6_ENST00000359003.2_Silent_p.Q355Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	355	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						CCTGGAGTTGCTGTTGCATTG	0.592																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(1063-1065)caG>caA		nuclear receptor coactivator 6							89	86	87					20																	33345486		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345486C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.1065G>A	20.37:g.33345486C>T						NCOA6_ENST00000359003.2_Silent_p.Q355Q	p.Q355Q			Q14686	NCOA6_HUMAN			8	3635	-			355			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.1065G>A	CCDS13241.1																																																																																				0.592	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		70	373	0	0	0	1	0	70	373					T	33345486	C	T	33345486	2	4	79	1	0	0	0	0	0	0	0	1	10275	796	28	2		2	NCOA6	20	33345486	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14553	33345486	29680034	20148	30465											
GGT7	2686	broad.mit.edu	37	chr20	33447341	33447341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacctcagccaggtcgggccGatgcagcaacgagccaggta	13	14	1	0	rs199667196		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33447341G>A	ENST00000336431.5	-	7	963	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	307					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						AGGTCGGGCCGATGCAGCAAC	0.662																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(919-921)Cgg>Tgg		gamma-glutamyltransferase 7		G	TRP/ARG	1,4403	2.1+/-5.4	0,1,2201	32	26	28		919	0.9	0.5	20		28	0,8596		0,0,4298	yes	missense	GGT7	NM_178026.2	101	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	307/663	33447341	1,12999	2202	4298	6500	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33447341G>A	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.919C>T	20.37:g.33447341G>A	ENSP00000338964:p.Arg307Trp						p.R307W	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			7	963	-			307					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.919C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305865	0.60305	2.27E-4	0.0	ENSG00000131067	ENST00000336431	T	0.07567	3.18	5.84	0.916	0.19373	.	0.059319	0.64402	D	0.000003	T	0.25975	0.0633	M	0.71871	2.18	0.32068	N	0.594845	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.965	T	0.39121	-0.9629	10	0.66056	D	0.02	-16.4042	15.8612	0.79021	0.0:0.0:0.4708:0.5292	.	307;307	A4FU32;Q9UJ14	.;GGT7_HUMAN	W	307	ENSP00000338964:R307W	ENSP00000338964:R307W	R	-	1	2	GGT7	32911002	0.990000	0.36364	0.514000	0.27761	0.736000	0.42039	2.037000	0.41174	0.322000	0.23283	0.561000	0.74099	CGG		0.662	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		26	107	0	0	0	1	0	26	107					A	33447341	G	A	33447341	3	1	79	1	0	0	0	0	1	0	0	0	6393	1057	37	1	1105	1	GGT7	20	33447341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101855	33447341	29578179	20149	30466											
GGT7	2686	broad.mit.edu	37	chr20	33450737	33450737	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgaagtgcagcgggcaGcatcggtcaccacggcaccc	13	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33450737G>T	ENST00000336431.5	-	3	481	c.437C>A	c.(436-438)gCt>gAt	p.A146D		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	146					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						GCAGCGGGCAGCATCGGTCAC	0.617																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(436-438)gCt>gAt		gamma-glutamyltransferase 7							53	39	44					20																	33450737		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33450737G>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.437C>A	20.37:g.33450737G>T	ENSP00000338964:p.Ala146Asp						p.A146D	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			3	481	-			146					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.437C>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	g	13.54	2.268618	0.40095	.	.	ENSG00000131067	ENST00000336431;ENST00000427420	T;T	0.21031	2.03;2.03	5.47	4.53	0.55603	.	0.123215	0.53938	D	0.000045	T	0.30696	0.0773	L	0.31207	0.915	0.51233	D	0.999915	D;D;D	0.71674	0.997;0.998;0.994	D;P;P	0.64410	0.925;0.889;0.844	T	0.02333	-1.1175	10	0.28530	T	0.3	-14.157	14.2309	0.65892	0.0713:0.0:0.9287:0.0	.	146;146;146	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	D	146;163	ENSP00000338964:A146D;ENSP00000394993:A163D	ENSP00000338964:A146D	A	-	2	0	GGT7	32914398	1.000000	0.71417	0.853000	0.33588	0.259000	0.26198	5.058000	0.64300	1.319000	0.45190	-0.141000	0.14075	GCT		0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		7	146	1	0	1.06961e-07	1	1.11297e-07	7	146					T	33450737	G	T	33450737	3	4	79	1	0	0	0	0	1	0	0	0	6393	971	34	3	1603	3	GGT7	20	33450737	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3396	33450737	29574783	20150	30467											
ACSS2	55902	broad.mit.edu	37	chr20	33509141	33509141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgccccaggcatagccGggcatccttgcaggtgttag	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33509141G>A	ENST00000360596.2	+	11	1497	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	429					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCATAGCCGGGCATCCTTG	0.592																																						ENST00000360596.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21						c.(1285-1287)cGg>cAg		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						67	69	68					20																	33509141		2203	4300	6503	SO:0001583	missense	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33509141G>A	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.1286G>A	20.37:g.33509141G>A	ENSP00000353804:p.Arg429Gln					ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Missense_Mutation_p.R442Q|ACSS2_ENST00000336325.4_Missense_Mutation_p.R379Q	p.R429Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN			11	1497	+			429					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	c.1286G>A	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275405	0.95459	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.49432	0.78;2.86;2.86	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.975	T	0.74551	-0.3628	10	0.87932	D	0	-11.6693	19.6361	0.95733	0.0:0.0:1.0:0.0	.	442;429	Q5QPH3;Q9NR19	.;ACSA_HUMAN	Q	379;429;427;137;442	ENSP00000337190:R379Q;ENSP00000353804:R429Q;ENSP00000253382:R442Q	ENSP00000253382:R442Q	R	+	2	0	ACSS2	32972802	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.425000	0.73370	2.878000	0.98634	0.650000	0.86243	CGG		0.592	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677		66	368	0	0	0	1	0	66	368					A	33509141	G	A	33509141	3	1	79	1	0	0	0	0	1	0	0	0	189	1116	39	1	1371	1	ACSS2	20	33509141	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58404	33509141	29516379	20151	30468											
GSS	2937	broad.mit.edu	37	chr20	33517274	33517274	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggctgccaggccgtaGcaggcaattctcaaaaggct	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33517274G>A	ENST00000216951.2	-	12	1329	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	GSS_ENST00000451957.2_Silent_p.L300L|GSS_ENST00000541098.1_Silent_p.L283L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	411					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCAGGCCGTAGCAGGCAATTC	0.547																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(1231-1233)Cta>Tta		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						216	197	204					20																	33517274		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33517274G>A		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1231C>T	20.37:g.33517274G>A						GSS_ENST00000541098.1_Silent_p.L283L|GSS_ENST00000451957.2_Silent_p.L300L	p.L411L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		12	1329	-			411					B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.1231C>T	CCDS13245.1																																																																																				0.547	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			236	1072	0	0	0	1	0	236	1072					A	33517274	G	A	33517274	2	1	79	1	0	0	0	0	0	0	0	1	6859	962	34	2		2	GSS	20	33517274	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8133	33517274	29508246	20152	30469											
GSS	2937	broad.mit.edu	37	chr20	33523406	33523406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtactgacgaggcatgtaGccatcccggaagtaaaccac	10	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33523406G>T	ENST00000216951.2	-	9	905	c.807C>A	c.(805-807)ggC>ggA	p.G269G	GSS_ENST00000451957.2_Silent_p.G158G|GSS_ENST00000541098.1_Silent_p.G141G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	269	Substrate binding.				aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCATGTAGCCATCCCGGA	0.483																																						ENST00000216951.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(805-807)ggC>ggA		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						109	89	95					20																	33523406		2203	4300	6503	SO:0001819	synonymous_variant	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33523406G>T		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.807C>A	20.37:g.33523406G>T						GSS_ENST00000541098.1_Silent_p.G141G|GSS_ENST00000451957.2_Silent_p.G158G	p.G269G	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		9	905	-			269			Substrate binding.		B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	ENST00000216951.2	37	c.807C>A	CCDS13245.1																																																																																				0.483	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			54	194	1	0	1.10885e-35	1	1.32494e-35	54	194					T	33523406	G	T	33523406	2	4	79	1	0	0	0	0	0	0	0	1	6859	958	34	3		3	GSS	20	33523406	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6132	33523406	29502114	20153	30470											
MYH7B	57644	broad.mit.edu	37	chr20	33565843	33565843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaacttggggagtctgcccGctacctccgccagggctacc	12	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33565843G>A	ENST00000262873.7	+	3	253	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	12						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)			GAGTCTGCCCGCTACCTCCGC	0.607																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(160-162)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							80	85	83					20																	33565843		2184	4281	6465	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33565843G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.161G>A	20.37:g.33565843G>A	ENSP00000262873:p.Arg54His						p.R54H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		3	253	+			12					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.161G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319059	0.41096	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	4.98	1.68	0.24146	.	0.716583	0.11545	N	0.553324	T	0.68155	0.2970	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.58624	-0.7604	10	0.56958	D	0.05	.	5.5154	0.16904	0.2844:0.4509:0.2647:0.0	.	12	A7E2Y1	MYH7B_HUMAN	H	54	ENSP00000262873:R54H	ENSP00000262873:R54H	R	+	2	0	MYH7B	33029504	0.000000	0.05858	0.998000	0.56505	0.917000	0.54804	0.014000	0.13333	0.642000	0.30620	0.655000	0.94253	CGC		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		104	458	0	0	0	1	0	104	458					A	33565843	G	A	33565843	3	1	79	1	0	0	0	0	1	0	0	0	10081	1087	38	1	171	1	MYH7B	20	33565843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42437	33565843	29459677	20154	30471											
MYH7B	57644	broad.mit.edu	37	chr20	33567510	33567510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcccatgaacccgcctcGcttcgacttactggaggaca	10	15	0	1	rs539864476	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33567510G>A	ENST00000262873.7	+	5	463	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	82	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AACCCGCCTCGCTTCGACTTA	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		12837	0.0		0.002	False		,,,				2504	0.0					ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(370-372)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							67	71	70					20																	33567510		2179	4282	6461	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33567510G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.371G>A	20.37:g.33567510G>A	ENSP00000262873:p.Arg124His						p.R124H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		5	463	+			82			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.371G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179720	0.78564	.	.	ENSG00000078814	ENST00000262873	T	0.71817	-0.6	4.31	4.31	0.51392	Myosin head, motor domain (1);	0.000000	0.38436	N	0.001682	T	0.53094	0.1775	L	0.42686	1.345	0.39505	D	0.968266	P	0.47762	0.9	B	0.34093	0.175	T	0.62048	-0.6936	10	0.87932	D	0	.	5.3674	0.16121	0.2536:0.0:0.7464:0.0	.	82	A7E2Y1	MYH7B_HUMAN	H	124	ENSP00000262873:R124H	ENSP00000262873:R124H	R	+	2	0	MYH7B	33031171	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.387000	0.79785	2.383000	0.81215	0.561000	0.74099	CGC		0.632	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		96	379	0	0	0	1	0	96	379					A	33567510	G	A	33567510	3	1	79	1	0	0	0	0	1	0	0	0	10081	1087	38	1	389	1	MYH7B	20	33567510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1667	33567510	29458010	20155	30472											
MYH7B	57644	broad.mit.edu	37	chr20	33575697	33575697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcggggttctggacatcGctgggtttgagatctttgag	14	7	3	2	rs376103118		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33575697G>A	ENST00000262873.7	+	16	1614	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	466	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)			TCTGGACATCGCTGGGTTTGA	0.607																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1522-1524)Gct>Act		myosin, heavy chain 7B, cardiac muscle, beta		G	THR/ALA	1,4313		0,1,2156	54	63	60		1522	3.7	1	20		60	0,8572		0,0,4286	no	missense	MYH7B	NM_020884.3	58	0,1,6442	AA,AG,GG		0.0,0.0232,0.0078	probably-damaging	508/1984	33575697	1,12885	2157	4286	6443	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33575697G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1522G>A	20.37:g.33575697G>A	ENSP00000262873:p.Ala508Thr						p.A508T	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		16	1614	+			466			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1522G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814580	0.70912	2.32E-4	0.0	ENSG00000078814	ENST00000262873	T	0.72505	-0.66	3.74	3.74	0.42951	Myosin head, motor domain (3);	0.000000	0.35708	N	0.003031	D	0.84447	0.5474	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85621	0.1264	10	0.42905	T	0.14	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	466	A7E2Y1	MYH7B_HUMAN	T	508	ENSP00000262873:A508T	ENSP00000262873:A508T	A	+	1	0	MYH7B	33039358	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	9.657000	0.98554	2.390000	0.81377	0.561000	0.74099	GCT		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		67	367	0	0	0	1	0	67	367					A	33575697	G	A	33575697	3	1	79	1	0	0	0	0	1	0	0	0	10081	1087	38	1	1584	1	MYH7B	20	33575697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8187	33575697	29449823	20156	30473											
MYH7B	57644	broad.mit.edu	37	chr20	33577604	33577604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaggcctcagacgccaGcttccgggccaagctctacg	10	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33577604G>T	ENST00000262873.7	+	18	1867	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	550	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)			TCAGACGCCAGCTTCCGGGCC	0.592																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(1774-1776)aGc>aTc		myosin, heavy chain 7B, cardiac muscle, beta							57	63	61					20																	33577604		2201	4300	6501	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577604G>T	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1775G>T	20.37:g.33577604G>T	ENSP00000262873:p.Ser592Ile						p.S592I	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		18	1867	+			550			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1775G>T	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381992	0.61845	.	.	ENSG00000078814	ENST00000262873	D	0.88431	-2.38	4.5	4.5	0.54988	Myosin head, motor domain (2);	0.000000	0.45361	D	0.000376	D	0.92935	0.7752	M	0.92026	3.265	0.37939	D	0.932263	P	0.45569	0.861	P	0.49887	0.625	D	0.95124	0.8249	10	0.87932	D	0	.	12.2402	0.54538	0.0:0.3167:0.6833:0.0	.	550	A7E2Y1	MYH7B_HUMAN	I	592	ENSP00000262873:S592I	ENSP00000262873:S592I	S	+	2	0	MYH7B	33041265	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	3.988000	0.56951	2.503000	0.84419	0.561000	0.74099	AGC		0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		14	299	1	0	6.31663e-08	1	6.57865e-08	14	299					T	33577604	G	T	33577604	3	4	79	1	0	0	0	0	1	0	0	0	10081	971	34	3	1845	3	MYH7B	20	33577604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1907	33577604	29447916	20157	30474											
MYH7B	57644	broad.mit.edu	37	chr20	33578604	33578604	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacttcgtccgctgcattGtccccaacgagaacaaaacc	6	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578604G>A	ENST00000262873.7	+	21	2259	c.2167G>A	c.(2167-2169)Gtc>Atc	p.V723I	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	681	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)			CCGCTGCATTGTCCCCAACGA	0.627																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2167-2169)Gtc>Atc		myosin, heavy chain 7B, cardiac muscle, beta							54	60	58					20																	33578604		2043	4197	6240	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578604G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2167G>A	20.37:g.33578604G>A	ENSP00000262873:p.Val723Ile						p.V723I	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		21	2259	+			681			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2167G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279273	0.05642	.	.	ENSG00000078814	ENST00000262873	D	0.85955	-2.05	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004041	T	0.45175	0.1329	N	0.00162	-1.95	0.37813	D	0.928124	B	0.09022	0.002	B	0.10450	0.005	T	0.60321	-0.7286	10	0.02654	T	1	.	4.53	0.12001	0.273:0.0:0.727:0.0	.	681	A7E2Y1	MYH7B_HUMAN	I	723	ENSP00000262873:V723I	ENSP00000262873:V723I	V	+	1	0	MYH7B	33042265	1.000000	0.71417	0.998000	0.56505	0.427000	0.31564	7.426000	0.80270	2.422000	0.82143	0.561000	0.74099	GTC		0.627	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		16	333	0	0	0	1	0	16	333					A	33578604	G	A	33578604	3	1	79	1	0	0	0	0	1	0	0	0	10081	1377	48	2	2249	2	MYH7B	20	33578604	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1000	33578604	29446916	20158	30475											
MYH7B	57644	broad.mit.edu	37	chr20	33578879	33578879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggatccggatctgccGccaagggttccccaacaggt	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578879G>A	ENST00000262873.7	+	22	2356	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	713	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)			CGGATCTGCCGCCAAGGGTTC	0.647																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2263-2265)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							63	70	68					20																	33578879		2114	4266	6380	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578879G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2264G>A	20.37:g.33578879G>A	ENSP00000262873:p.Arg755His						p.R755H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		22	2356	+			713			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2264G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058244	0.76074	.	.	ENSG00000078814	ENST00000262873	T	0.74842	-0.88	3.7	3.7	0.42460	Myosin head, motor domain (2);	0.000000	0.38111	N	0.001811	D	0.88819	0.6540	H	0.95114	3.625	0.58432	D	0.999998	D	0.69078	0.997	P	0.60949	0.881	D	0.92757	0.6221	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	713	A7E2Y1	MYH7B_HUMAN	H	755	ENSP00000262873:R755H	ENSP00000262873:R755H	R	+	2	0	MYH7B	33042540	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.601000	0.98297	2.379000	0.81126	0.655000	0.94253	CGC		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		35	292	0	0	0	1	0	35	292					A	33578879	G	A	33578879	3	1	79	1	0	0	0	0	1	0	0	0	10081	1087	38	1	2350	1	MYH7B	20	33578879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	275	33578879	29446641	20159	30476											
MYH7B	57644	broad.mit.edu	37	chr20	33582190	33582190	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagaatgacctggccCtgcagctgcaggctgtgagt	15	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33582190C>A	ENST00000262873.7	+	25	2904	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	896						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)			TGACCTGGCCCTGCAGCTGCA	0.672																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2812-2814)Ctg>Atg		myosin, heavy chain 7B, cardiac muscle, beta							18	24	22					20																	33582190		2097	4211	6308	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33582190C>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2812C>A	20.37:g.33582190C>A	ENSP00000262873:p.Leu938Met						p.L938M	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		25	2904	+			896					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2812C>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693707	0.48202	.	.	ENSG00000078814	ENST00000262873	D	0.94000	-3.33	4.32	-1.0	0.10196	.	0.000000	0.30201	N	0.010175	D	0.95736	0.8613	M	0.85542	2.76	0.34256	D	0.67939	D	0.76494	0.999	D	0.85130	0.997	D	0.94844	0.8007	10	0.59425	D	0.04	.	9.0813	0.36554	0.0:0.626:0.0:0.374	.	896	A7E2Y1	MYH7B_HUMAN	M	938	ENSP00000262873:L938M	ENSP00000262873:L938M	L	+	1	2	MYH7B	33045851	0.552000	0.26505	0.976000	0.42696	0.779000	0.44077	1.227000	0.32576	-0.240000	0.09696	-0.768000	0.03414	CTG		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		18	199	1	0	9.16793e-09	1	9.60025e-09	18	199					A	33582190	C	A	33582190	3	1	79	1	0	0	0	0	1	0	0	0	10081	680	24	3	2910	3	MYH7B	20	33582190	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3311	33582190	29443330	20160	30477											
MYH7B	26133	broad.mit.edu	37	chr20	33588098	33588098	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaccctcctcccataggcGcaaccaccagcgagctgtgg	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33588098G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.R1637H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						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)			TCCCATAGGCGCAACCACCAG	0.582																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(4909-4911)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							104	116	112					20																	33588098		2047	4110	6157	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33588098G>A	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		20.37:g.33588098G>A							p.R1637H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		37	5002	+			1595					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.4910G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418027	0.83449	.	.	ENSG00000078814	ENST00000262873	T	0.81415	-1.49	3.97	3.97	0.46021	Myosin tail (1);	0.000000	0.35235	N	0.003347	D	0.92364	0.7577	H	0.96547	3.84	0.58432	D	0.999991	D	0.76494	0.999	D	0.65773	0.938	D	0.95091	0.8222	10	0.87932	D	0	.	16.6423	0.85129	0.0:0.0:1.0:0.0	.	1595	A7E2Y1	MYH7B_HUMAN	H	1637	ENSP00000262873:R1637H	ENSP00000262873:R1637H	R	+	2	0	MYH7B	33051759	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.758000	0.85224	2.222000	0.72286	0.558000	0.71614	CGC		0.582	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		219	986	0	0	0	1	0	219	986					A	33588098	G	A	33588098	1	1	79	0	1	0	0	0	0	0	0	0	10081	1087	38	1		1	MYH7B	20	33588098	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5908	33588098	29437422	20161	30478											
TRPC4AP	26133	broad.mit.edu	37	chr20	33591414	33591414	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgaggcagctgacGttctcctgcaaggccacagg	14	11	1	2	rs145462116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33591414G>A	ENST00000252015.2	-	18	2144	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	TRPC4AP_ENST00000539834.1_Silent_p.N287N|TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000451813.2_Silent_p.N677N			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	685					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)			GGCAGCTGACGTTCTCCTGCA	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16071	0.0		0.0	False		,,,				2504	0.0					ENST00000252015.2																			0				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						c.(2053-2055)aaC>aaT		transient receptor potential cation channel, subfamily C, member 4 associated protein		G	,	4,4402	8.1+/-20.4	0,4,2199	31	27	29		2055,2031	-8	0.5	20	dbSNP_134	29	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRPC4AP	NM_015638.2,NM_199368.1	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	685/798,677/790	33591414	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33591414G>A	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.2055C>T	20.37:g.33591414G>A						TRPC4AP_ENST00000451813.1_Silent_p.N677N|TRPC4AP_ENST00000432634.2_Silent_p.N646N|TRPC4AP_ENST00000539834.1_Silent_p.N287N	p.N685N			Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		18	2144	-			685					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.2055C>T	CCDS13246.1																																																																																				0.667	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		41	89	0	0	0	1	0	41	89					A	33591414	G	A	33591414	2	1	79	1	0	0	0	0	0	0	0	1	16634	1136	40	1		1	TRPC4AP	20	33591414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3316	33591414	29434106	20162	30479											
EDEM2	55741	broad.mit.edu	37	chr20	33719541	33719541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccagccccgatgcctgcgtCctgggccacccacttgccag	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33719541C>T	ENST00000374492.3	-	7	853	c.748G>A	c.(748-750)Gac>Aac	p.D250N	EDEM2_ENST00000374491.3_Missense_Mutation_p.D213N|EDEM2_ENST00000540582.1_Missense_Mutation_p.D209N|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	250					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGCCTGCGTCCTGGGCCACC	0.557																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(625-627)Gac>Aac		ER degradation enhancer, mannosidase alpha-like 2							109	110	110					20																	33719541		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33719541C>T	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.748G>A	20.37:g.33719541C>T	ENSP00000363616:p.Asp250Asn					EDEM2_ENST00000374492.3_Missense_Mutation_p.D250N|EDEM2_ENST00000541621.1_Missense_Mutation_p.D29N|EDEM2_ENST00000374491.2_Missense_Mutation_p.D213N|EDEM2_ENST00000542871.1_5'UTR	p.D209N			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1346	-			250					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.625G>A	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809335	0.96975	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000540582	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	L	0.49699	1.58	0.80722	D	1	P;D;D;D	0.89917	0.765;1.0;1.0;1.0	B;D;D;D	0.87578	0.201;0.998;0.995;0.997	T	0.82575	-0.0389	10	0.87932	D	0	-22.4335	20.2084	0.98285	0.0:1.0:0.0:0.0	.	209;29;213;250	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	N	213;250;29;209	ENSP00000363615:D213N;ENSP00000363616:D250N;ENSP00000443528:D29N;ENSP00000441548:D209N	ENSP00000363615:D213N	D	-	1	0	EDEM2	33183202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.774000	0.95407	0.650000	0.86243	GAC		0.557	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		28	834	0	0	0	1	0	28	834					T	33719541	C	T	33719541	3	4	79	1	0	0	0	0	1	0	0	0	4928	855	30	2	1008	2	EDEM2	20	33719541	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	128127	33719541	29305979	20163	30480											
EDEM2	55741	broad.mit.edu	37	chr20	33725733	33725733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattctcaggagaggcccgGaacagggccatccagcctct	11	15	2	1	rs570573727		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33725733G>A	ENST00000374492.3	-	5	545	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EDEM2_ENST00000374491.3_Missense_Mutation_p.S110F|EDEM2_ENST00000540582.1_Missense_Mutation_p.S106F|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	147					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGAGGCCCGGAACAGGGCCA	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15310	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(51;906 1021 24535 36410 39145)	ENST00000540582.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(316-318)tCc>tTc		ER degradation enhancer, mannosidase alpha-like 2							86	93	90					20																	33725733		2203	4300	6503	SO:0001583	missense	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33725733G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.440C>T	20.37:g.33725733G>A	ENSP00000363616:p.Ser147Phe					EDEM2_ENST00000374492.3_Missense_Mutation_p.S147F|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374491.2_Missense_Mutation_p.S110F|EDEM2_ENST00000542871.1_Intron	p.S106F			Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		9	1038	-			147					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	ENST00000374492.3	37	c.317C>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197311	0.94960	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.72615	-0.67;-0.67;-0.67	5.5	5.5	0.81552	.	0.103011	0.64402	D	0.000001	T	0.79713	0.4493	L	0.47716	1.5	0.80722	D	1	P;P;P	0.52316	0.857;0.941;0.952	P;P;P	0.60682	0.613;0.735;0.878	T	0.80341	-0.1423	10	0.87932	D	0	-13.1246	19.5944	0.95530	0.0:0.0:1.0:0.0	.	106;110;147	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	F	110;147;106	ENSP00000363615:S110F;ENSP00000363616:S147F;ENSP00000441548:S106F	ENSP00000363615:S110F	S	-	2	0	EDEM2	33189394	1.000000	0.71417	0.981000	0.43875	0.913000	0.54294	9.633000	0.98432	2.868000	0.98415	0.555000	0.69702	TCC		0.577	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		55	755	0	0	0	1	0	55	755					A	33725733	G	A	33725733	3	1	79	1	0	0	0	0	1	0	0	0	4928	1174	41	2	1324	2	EDEM2	20	33725733	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6192	33725733	29299787	20164	30481											
MMP24	10893	broad.mit.edu	37	chr20	33834760	33834760	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagttttacgggatcccgGtcaccggtgtgttggatcag	14	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33834760G>T	ENST00000246186.6	+	2	449	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	122					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)	CGGGATCCCGGTCACCGGTGT	0.507																																						ENST00000246186.6																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(364-366)Gtc>Ttc		matrix metallopeptidase 24 (membrane-inserted)							118	115	116					20																	33834760		2045	4192	6237	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33834760G>T	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.364G>T	20.37:g.33834760G>T	ENSP00000246186:p.Val122Phe					MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron	p.V122F	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	449	+			122					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.364G>T	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295962	0.95574	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.47177	0.85	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.91818	3.245	0.80722	D	1	D	0.63046	0.992	D	0.75020	0.985	T	0.80688	-0.1271	10	0.72032	D	0.01	.	18.5657	0.91115	0.0:0.0:1.0:0.0	.	122	Q9Y5R2	MMP24_HUMAN	F	122;70	ENSP00000246186:V122F	ENSP00000246186:V122F	V	+	1	0	MMP24	33298176	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.756000	0.85195	2.864000	0.98301	0.551000	0.68910	GTC		0.507	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		66	331	1	0	2.17656e-39	1	2.63193e-39	66	331					T	33834760	G	T	33834760	3	4	79	1	0	0	0	0	1	0	0	0	9702	1261	44	3	120	3	MMP24	20	33834760	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109027	33834760	29190760	20165	30482											
FAM83C	128876	broad.mit.edu	37	chr20	33874450	33874450	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcatccctgaccaggtcaCtgttaccaccattgagatgg	8	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33874450C>A	ENST00000374408.3	-	4	2228	c.2132G>T	c.(2131-2133)aGt>aTt	p.S711I	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	711										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)			GACCAGGTCACTGTTACCACC	0.562																																						ENST00000374408.3																			0				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						c.(2131-2133)aGt>aTt		family with sequence similarity 83, member C							112	106	108					20																	33874450		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33874450C>A	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.2132G>T	20.37:g.33874450C>A	ENSP00000363529:p.Ser711Ile						p.S711I	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	2228	-			711					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.2132G>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	4.213	0.038302	0.08148	.	.	ENSG00000125998	ENST00000374408	T	0.07567	3.18	4.43	0.193	0.15139	.	1.521730	0.03597	N	0.232847	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.38950	-0.9637	10	0.87932	D	0	-10.6538	4.8603	0.13581	0.0:0.2742:0.1535:0.5723	.	711	Q9BQN1	FA83C_HUMAN	I	711	ENSP00000363529:S711I	ENSP00000363529:S711I	S	-	2	0	FAM83C	33337864	0.299000	0.24426	0.943000	0.38184	0.006000	0.05464	0.540000	0.23191	0.285000	0.22329	-0.672000	0.03802	AGT		0.562	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			97	381	1	0	1.64877e-56	1	2.06338e-56	97	381					A	33874450	C	A	33874450	3	1	79	1	0	0	0	0	1	0	0	0	5660	565	20	3	115	3	FAM83C	20	33874450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39690	33874450	29151070	20166	30483											
FAM83C	128876	broad.mit.edu	37	chr20	33879692	33879692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtggggctgaagcctGtggcctgtggcacctcgggc	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879692G>A	ENST00000374408.3	-	1	512	c.416C>T	c.(415-417)aCa>aTa	p.T139I		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	139										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)			GCTGAAGCCTGTGGCCTGTGG	0.617																																						ENST00000374408.3																			0				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						c.(415-417)aCa>aTa		family with sequence similarity 83, member C							77	79	78					20																	33879692		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33879692G>A	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.416C>T	20.37:g.33879692G>A	ENSP00000363529:p.Thr139Ile						p.T139I	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	512	-			139					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.416C>T	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054034	0.55218	.	.	ENSG00000125998	ENST00000374408	T	0.11277	2.79	4.83	4.83	0.62350	.	0.338132	0.30959	N	0.008532	T	0.24044	0.0582	L	0.38531	1.155	0.48830	D	0.999719	D	0.89917	1.0	D	0.79784	0.993	T	0.00472	-1.1719	10	0.41790	T	0.15	-27.7727	17.0208	0.86433	0.0:0.0:1.0:0.0	.	139	Q9BQN1	FA83C_HUMAN	I	139	ENSP00000363529:T139I	ENSP00000363529:T139I	T	-	2	0	FAM83C	33343106	1.000000	0.71417	0.997000	0.53966	0.715000	0.41141	3.363000	0.52321	2.682000	0.91365	0.561000	0.74099	ACA		0.617	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			128	587	0	0	0	1	0	128	587					A	33879692	G	A	33879692	3	1	79	1	0	0	0	0	1	0	0	0	5660	1377	48	2	1843	2	FAM83C	20	33879692	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5242	33879692	29145828	20167	30484											
FAM83C	128876	broad.mit.edu	37	chr20	33879849	33879849	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgagctcagggccccCgcgcacatggctggtcatgt	13	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879849C>T	ENST00000374408.3	-	1	355	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	87										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)			TCAGGGCCCCCGCGCACATGG	0.677																																						ENST00000374408.3																			0				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						c.(259-261)Ggg>Agg		family with sequence similarity 83, member C							36	39	38					20																	33879849		2203	4299	6502	SO:0001583	missense	128876							g.chr20:33879849C>T	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.259G>A	20.37:g.33879849C>T	ENSP00000363529:p.Gly87Arg						p.G87R	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	355	-			87					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.259G>A	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315752	0.23908	.	.	ENSG00000125998	ENST00000374408	T	0.10477	2.87	5.38	2.36	0.29203	.	0.421653	0.25250	N	0.032033	T	0.08935	0.0221	L	0.43152	1.355	0.09310	N	0.999992	B	0.23185	0.081	B	0.20384	0.029	T	0.35871	-0.9771	10	0.17369	T	0.5	-21.0526	10.2058	0.43112	0.0:0.7813:0.0:0.2187	.	87	Q9BQN1	FA83C_HUMAN	R	87	ENSP00000363529:G87R	ENSP00000363529:G87R	G	-	1	0	FAM83C	33343263	0.001000	0.12720	0.001000	0.08648	0.350000	0.29205	1.119000	0.31258	0.341000	0.23771	0.462000	0.41574	GGG		0.677	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			13	323	0	0	0	1	0	13	323					T	33879849	C	T	33879849	3	4	79	1	0	0	0	0	1	0	0	0	5660	652	23	1	2000	1	FAM83C	20	33879849	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157	33879849	29145671	20168	30485											
GDF5	554250	broad.mit.edu	37	chr20	34022053	34022053	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggtcgcttgccctggCgagtggccagtggggcccgc	18	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34022053C>T	ENST00000374375.1	+	2	539	c.97C>T	c.(97-99)Cga>Tga	p.R33*	GDF5_ENST00000374372.1_Missense_Mutation_p.R387H|GDF5_ENST00000374369.3_Missense_Mutation_p.R387H			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	33	Arg-rich.					mitochondrion (GO:0005739)		p.R387H(1)		cervix(1)|endometrium(4)|lung(4)	9						CTTGCCCTGGCGAGTGGCCAG	0.577																																						ENST00000374375.1																			1	Substitution - Missense(1)	p.R387H(1)	central_nervous_system(1)	cervix(1)|endometrium(4)|lung(4)	9						c.(97-99)Cga>Tga									80	82	82					20																	34022053		2203	4300	6503	SO:0001587	stop_gained	0							g.chr20:34022053C>T	BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.97C>T	20.37:g.34022053C>T	ENSP00000363495:p.Arg33*					GDF5_ENST00000374369.3_Missense_Mutation_p.R387H|GDF5_ENST00000374372.1_Missense_Mutation_p.R387H	p.R33*							2	539	+								A6PVI8	Nonsense_Mutation	SNP	ENST00000374375.1	37	c.97C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.644736|6.644736	0.97730|0.97730	.|.	.|.	ENSG00000125965|ENSG00000204183	ENST00000374369;ENST00000374372|ENST00000374375	D;D|.	0.81908|.	-1.55;-1.55|.	4.05|4.05	4.05|4.05	0.47172|0.47172	Transforming growth factor-beta, C-terminal (1);|.	0.066834|0.066834	0.64402|0.64402	D|D	0.000013|0.000013	T|.	0.60025|.	0.2237|.	L|L	0.32530|0.32530	0.975|0.975	0.54753|0.54753	D|D	0.99998|0.99998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.974;0.994|.	T|.	0.66598|.	-0.5883|.	10|.	0.72032|0.87932	D|D	0.01|0	.|.	16.4028|16.4028	0.83647|0.83647	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	387;387|.	F1T0J1;P43026|.	.;GDF5_HUMAN|.	H|X	387|33	ENSP00000363489:R387H;ENSP00000363492:R387H|.	ENSP00000363489:R387H|ENSP00000363495:R33X	R|R	-|+	2|1	0|2	GDF5|GDF5OS	33485467|33485467	0.948000|0.948000	0.32251|0.32251	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	2.340000|2.340000	0.43974|0.43974	2.085000|2.085000	0.62840|0.62840	0.313000|0.313000	0.20887|0.20887	CGC|CGA		0.577	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000125987.3			21	897	0	0	0	1	0	21	897					T	34022053	C	T	34022053	4	4	79	1	0	0	0	0	0	1	0	0	6345	768	27	1	349	1	GDF5	20	34022053	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	142204	34022053	29003467	20169	30486											
GDF5	8200	broad.mit.edu	37	chr20	34025405	34025405	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgggttcagggccgcCcggtctggggggcagctttt	18	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34025405C>T	ENST00000374372.1	-	3	807	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GDF5_ENST00000374369.3_Missense_Mutation_p.G102S			P43026	GDF5_HUMAN	growth differentiation factor 5	102					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCAGGGCCGCCCGGTCTGGGG	0.647																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(304-306)Ggc>Agc		growth differentiation factor 5							42	46	44					20																	34025405		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34025405C>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.304G>A	20.37:g.34025405C>T	ENSP00000363492:p.Gly102Ser					GDF5_ENST00000374369.3_Missense_Mutation_p.G102S	p.G102S			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		3	807	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		102					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.304G>A	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280357	0.23392	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.28454	1.61;1.61	4.39	4.39	0.52855	.	1.770760	0.03377	N	0.199874	T	0.30039	0.0752	N	0.24115	0.695	0.22858	N	0.998645	B;B	0.21520	0.057;0.057	B;B	0.12837	0.008;0.008	T	0.37619	-0.9698	10	0.49607	T	0.09	.	17.1029	0.86654	0.0:1.0:0.0:0.0	.	102;102	F1T0J1;P43026	.;GDF5_HUMAN	S	102	ENSP00000363489:G102S;ENSP00000363492:G102S	ENSP00000363489:G102S	G	-	1	0	GDF5	33488819	0.830000	0.29337	0.996000	0.52242	0.169000	0.22640	1.837000	0.39201	2.256000	0.74724	0.313000	0.20887	GGC		0.647	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			71	265	0	0	0	1	0	71	265					T	34025405	C	T	34025405	3	4	79	1	0	0	0	0	1	0	0	0	6345	623	22	2	1209	2	GDF5	20	34025405	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3352	34025405	29000115	20170	30487											
CEP250	11190	broad.mit.edu	37	chr20	34061768	34061768	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctagagcaggaggcatggCgcctgcgaagggtaaatgtg	17	7	0	1	rs151167358	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34061768C>T	ENST00000397527.1	+	14	2182	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.R488C|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	488	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)			GGAGGCATGGCGCCTGCGAAG	0.627																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1462-1464)Cgc>Tgc		centrosomal protein 250kDa		C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	38	40	39		1462	1.9	0.9	20	dbSNP_134	39	0,8600		0,0,4300	yes	missense	CEP250	NM_007186.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	488/2443	34061768	7,12999	2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34061768C>T	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.1462C>T	20.37:g.34061768C>T	ENSP00000380661:p.Arg488Cys					CEP250_ENST00000342580.4_Missense_Mutation_p.R488C	p.R488C	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		14	2182	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		488			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.1462C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710481	0.68730	0.001589	0.0	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934	T;T;T	0.25579	2.73;2.76;1.79	5.14	1.89	0.25635	.	0.000000	0.47093	D	0.000244	T	0.32704	0.0838	N	0.24115	0.695	0.41004	D	0.984958	D	0.89917	1.0	D	0.71870	0.975	T	0.02713	-1.1120	10	0.46703	T	0.11	.	12.3911	0.55358	0.444:0.556:0.0:0.0	.	488	Q9BV73	CP250_HUMAN	C	488;488;487	ENSP00000380661:R488C;ENSP00000341541:R488C;ENSP00000413827:R487C	ENSP00000341541:R488C	R	+	1	0	CEP250	33525182	0.997000	0.39634	0.888000	0.34837	0.996000	0.88848	0.820000	0.27323	0.113000	0.18004	0.655000	0.94253	CGC		0.627	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	188	0	0	0	1	0	5	188					T	34061768	C	T	34061768	3	4	79	1	0	0	0	0	1	0	0	0	3261	768	27	1	1504	1	CEP250	20	34061768	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36363	34061768	28963752	20171	30488											
CEP250	11190	broad.mit.edu	37	chr20	34081331	34081331	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggcagcccggcagcacagaGatgaccttgctgccctccaa	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34081331G>A	ENST00000397527.1	+	23	3685	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.D933N|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	989	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)			GCAGCACAGAGATGACCTTGC	0.577																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2965-2967)Gat>Aat		centrosomal protein 250kDa							58	62	60					20																	34081331		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34081331G>A	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.2965G>A	20.37:g.34081331G>A	ENSP00000380661:p.Asp989Asn					CEP250_ENST00000342580.4_Missense_Mutation_p.D933N	p.D989N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		23	3685	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		989			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.2965G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	9.641	1.139066	0.21205	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10668	2.91;2.85	3.76	2.77	0.32553	.	1.390910	0.05106	N	0.488063	T	0.12944	0.0314	L	0.57536	1.79	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.36720	-0.9736	10	0.17832	T	0.49	.	8.6375	0.33957	0.1154:0.0:0.8846:0.0	.	989	Q9BV73	CP250_HUMAN	N	989;933	ENSP00000380661:D989N;ENSP00000341541:D933N	ENSP00000341541:D933N	D	+	1	0	CEP250	33544745	0.388000	0.25197	0.058000	0.19502	0.391000	0.30476	2.396000	0.44468	1.942000	0.56320	0.174000	0.16983	GAT		0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		130	445	0	0	0	1	0	130	445					A	34081331	G	A	34081331	3	1	79	1	0	0	0	0	1	0	0	0	3261	942	33	2	3043	2	CEP250	20	34081331	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19563	34081331	28944189	20172	30489											
ROMO1	140823	broad.mit.edu	37	chr20	34288758	34288758	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagctgatgggcggcattgGgaaaaccatgatgcagagtg	16	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34288758G>T	ENST00000374078.1	+	3	350	c.170G>T	c.(169-171)gGg>gTg	p.G57V	NFS1_ENST00000374092.4_5'Flank|ROMO1_ENST00000374072.1_3'UTR|NFS1_ENST00000540053.1_5'Flank|NFS1_ENST00000397425.1_5'Flank|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V|NFS1_ENST00000306750.3_5'Flank|NFS1_ENST00000374085.1_5'Flank|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|NFS1_ENST00000541387.1_5'Flank	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	57	Sufficient for antibacterial activity.				cellular response to reactive oxygen species (GO:0034614)|defense response to bacterium (GO:0042742)|positive regulation of cell proliferation (GO:0008284)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|replicative cell aging (GO:0001302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				cervix(1)	1						GGCGGCATTGGGAAAACCATG	0.502																																						ENST00000374078.1																			0				cervix(1)	1						c.(169-171)gGg>gTg		reactive oxygen species modulator 1							141	104	117					20																	34288758		2203	4300	6503	SO:0001583	missense	140823				cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane		g.chr20:34288758G>T	AK000548	CCDS13264.1	20q11.22	2008-09-30	2008-09-30	2008-09-30	ENSG00000125995	ENSG00000125995			16185	protein-coding gene	gene with protein product	"mitochondrial targeting GXXXG protein"		"chromosome 20 open reading frame 52"	C20orf52		18313394, 17537404, 16842742	Standard	NM_080748		Approved	bA353C18.2, MTGMP	uc002xdy.3	P60602	OTTHUMG00000032360	ENST00000374078.1:c.170G>T	20.37:g.34288758G>T	ENSP00000363191:p.Gly57Val					ROMO1_ENST00000374072.1_3'UTR|ROMO1_ENST00000374077.3_Missense_Mutation_p.G57V|ROMO1_ENST00000336695.4_Missense_Mutation_p.G57V|ROMO1_ENST00000397416.1_Missense_Mutation_p.G57V	p.G57V	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN			3	350	+			57					A7M872|E1P5R9|E9KL28|Q3MHD5|Q5QP16|Q9CQ98|Q9H1N2	Missense_Mutation	SNP	ENST00000374078.1	37	c.170G>T	CCDS13264.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885100	0.91814	.	.	ENSG00000125995	ENST00000374078;ENST00000374077;ENST00000397416;ENST00000336695	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.72112	0.3420	.	.	.	0.80722	D	1	D	0.63046	0.992	P	0.62649	0.905	T	0.76761	-0.2840	9	0.87932	D	0	.	18.1669	0.89731	0.0:0.0:1.0:0.0	.	57	P60602	ROMO1_HUMAN	V	57	ENSP00000363191:G57V;ENSP00000363190:G57V;ENSP00000380561:G57V;ENSP00000338293:G57V	ENSP00000338293:G57V	G	+	2	0	ROMO1	33752172	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.594000	0.98254	2.536000	0.85505	0.650000	0.86243	GGG		0.502	ROMO1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000126404.1	NM_080748		54	308	1	0	1.4709e-25	1	1.68871e-25	54	308					T	34288758	G	T	34288758	3	4	79	1	0	0	0	0	1	0	0	0	13572	1232	43	3	176	3	ROMO1	20	34288758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	207427	34288758	28736762	20173	30490											
RBM39	9584	broad.mit.edu	37	chr20	34319920	34319920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacttcttgagcggctccgtCgcctctctttgcttctactt	8	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34319920C>T	ENST00000253363.6	-	4	262	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000361162.6_Missense_Mutation_p.R80Q			Q14498	RBM39_HUMAN	RNA binding motif protein 39	80	Arg/Ser-rich (RS domain).				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GCGGCTCCGTCGCCTCTCTTT	0.433																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(238-240)cGa>cAa		RNA binding motif protein 39							184	174	177					20																	34319920		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34319920C>T	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.239G>A	20.37:g.34319920C>T	ENSP00000253363:p.Arg80Gln					RBM39_ENST00000528062.3_Missense_Mutation_p.R80Q|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R80Q	p.R80Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			4	623	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		80			Arg/Ser-rich (RS domain).		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.239G>A	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.556659|4.556659	0.86231|0.86231	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000426951|ENST00000253363;ENST00000361162;ENST00000528062;ENST00000374038;ENST00000427743;ENST00000434927	.|T;T;T;T;T;T	.|0.42900	.|3.45;3.45;1.0;3.48;3.48;0.96	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	.|0.099966	.|0.64402	.|D	.|0.000004	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P	.|0.46327	.|0.804;0.804;0.876;0.804;0.804	.|B;B;B;B;B	.|0.39738	.|0.163;0.163;0.308;0.163;0.114	T|T	0.47560|0.47560	-0.9108|-0.9108	5|10	.|0.17832	.|T	.|0.49	.|.	20.2836|20.2836	0.98532|0.98532	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;80;80;80;56	.|B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7	.|.;.;.;RBM39_HUMAN;.	N|Q	68|80	.|ENSP00000253363:R80Q;ENSP00000354437:R80Q;ENSP00000436747:R80Q;ENSP00000363150:R80Q;ENSP00000406801:R80Q;ENSP00000393493:R80Q	.|ENSP00000253363:R80Q	D|R	-|-	1|2	0|0	RBM39|RBM39	33783334|33783334	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.396000|4.396000	0.59684|0.59684	2.789000|2.789000	0.95967|0.95967	0.651000|0.651000	0.88453|0.88453	GAC|CGA		0.433	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		207	863	0	0	0	1	0	207	863					T	34319920	C	T	34319920	3	4	79	1	0	0	0	0	1	0	0	0	13183	884	31	1	1409	1	RBM39	20	34319920	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31162	34319920	28705600	20174	30491											
RBM39	9584	broad.mit.edu	37	chr20	34320047	34320047	+	Frame_Shift_Del	DEL	T	T	-													actacgacttctgctcttgcTttttttcctcctgagaagaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34320047delT	ENST00000253363.6	-	4	135	c.112delA	c.(112-114)agcfs	p.S38fs	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Frame_Shift_Del_p.S38fs|RBM39_ENST00000361162.6_Frame_Shift_Del_p.S38fs			Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(112-114)gcfs		RNA binding motif protein 39							122	113	116					20																	34320047		2203	4300	6503	SO:0001589	frameshift_variant	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34320047delT	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"RNA binding motif (RRM) containing"	15923	protein-coding gene	gene with protein product	"coactivator of activating protein-1 and estrogen receptors", "functional spliceosome-associated protein 59"	604739	"RNA-binding region (RNP1, RRM) containing 2"	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.112delA	20.37:g.34320047delT	ENSP00000253363:p.Ser38fs					RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Frame_Shift_Del_p.S38fs|RBM39_ENST00000528062.3_Frame_Shift_Del_p.S38fs	p.S38fs	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			4	496	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		38					A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Frame_Shift_Del	DEL	ENST00000253363.6	37	c.112delA	CCDS13266.1																																																																																				0.398	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		8	663						8	663	---	---	---	---	-	34320047	T	-	34320047	7	5	79	1	0	1	0	1	0	0	0	0	13183	1609	56	0	1536	0	RBM39	20	34320047	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	127	34320047	28705473	20175	30492											
C20orf152	140894	broad.mit.edu	37	chr20	34575343	34575343	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggagctgtttgcatcatggtCtgatgagaagctctggcagc	14	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34575343C>A	ENST00000373973.3	+	7	916	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	CNBD2_ENST00000538900.1_Missense_Mutation_p.S248Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.S248Y			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	248																	GCATCATGGTCTGATGAGAAG	0.498																																						ENST00000373973.3																			0											c.(742-744)tCt>tAt		cyclic nucleotide binding domain containing 2							99	83	88					20																	34575343		2203	4300	6503	SO:0001583	missense	140894							g.chr20:34575343C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.743C>A	20.37:g.34575343C>A	ENSP00000363084:p.Ser248Tyr					CNBD2_ENST00000538900.1_Missense_Mutation_p.S248Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.S248Y	p.S248Y							7	916	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37	c.743C>A		.	.	.	.	.	.	.	.	.	.	C	17.48	3.401395	0.62288	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	T;T;T	0.51574	0.7;0.7;0.7	5.38	3.44	0.39384	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.539012	0.19095	N	0.122860	T	0.62539	0.2436	M	0.69823	2.125	0.26987	N	0.965225	D;D	0.62365	0.984;0.991	P;D	0.66716	0.847;0.946	T	0.54463	-0.8290	10	0.72032	D	0.01	-2.128	8.5024	0.33165	0.1738:0.659:0.1672:0.0	.	248;248	Q96M20;Q96M20-2	CT152_HUMAN;.	Y	248	ENSP00000363084:S248Y;ENSP00000340954:S248Y;ENSP00000442729:S248Y	ENSP00000340954:S248Y	S	+	2	0	C20orf152	34038757	0.279000	0.24239	0.839000	0.33178	0.798000	0.45092	2.052000	0.41316	0.820000	0.34516	0.655000	0.94253	TCT		0.498	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		7	251	1	0	8.12818e-05	1	8.2724e-05	7	251					A	34575343	C	A	34575343	3	1	79	1	0	0	0	0	1	0	0	0	2099	913	32	3	769	3	C20orf152	20	34575343	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255296	34575343	28450177	20176	30493											
C20orf152	140894	broad.mit.edu	37	chr20	34582960	34582960	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcccttgctgtgttcagGgcagctgtgaagtcctgcgg	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34582960G>A	ENST00000373973.3	+	8	1029	c.856G>A	c.(856-858)Ggc>Agc	p.G286S	CNBD2_ENST00000538900.1_Splice_Site_p.G286S|CNBD2_ENST00000349339.1_Splice_Site_p.G286S			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	286																	CTGTGTTCAGGGCAGCTGTGA	0.517											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373973.3																			0											c.e8-1		cyclic nucleotide binding domain containing 2							110	90	97					20																	34582960		2203	4300	6503	SO:0001630	splice_region_variant	140894							g.chr20:34582960G>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.856-1G>A	20.37:g.34582960G>A			OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	CNBD2_ENST00000538900.1_Splice_Site_p.G286_splice|CNBD2_ENST00000349339.1_Splice_Site_p.G286_splice	p.G286_splice							8	1029	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Splice_Site	SNP	ENST00000373973.3	37	c.855_splice		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369411	0.82463	.	.	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.94931	-3.56;-3.56;-3.56	4.79	4.79	0.61399	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.64402	D	0.000002	D	0.96442	0.8839	M	0.72894	2.215	0.37752	D	0.926012	D;D	0.89917	1.0;1.0	D;D	0.77557	0.977;0.99	D	0.96279	0.9205	9	.	.	.	-20.4217	13.6483	0.62294	0.0:0.0:1.0:0.0	.	286;286	Q96M20;Q96M20-2	CT152_HUMAN;.	S	286	ENSP00000363084:G286S;ENSP00000340954:G286S;ENSP00000442729:G286S	.	G	+	1	0	C20orf152	34046374	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.703000	0.54808	2.941000	0.99782	0.655000	0.94253	GGC		0.517	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834	Missense_Mutation	39	238	0	0	0	1	0	39	238					A	34582960	G	A	34582960	5	1	79	1	0	0	0	0	0	0	1	0	2099	1246	43	2	886	2	C20orf152	20	34582960	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7617	34582960	28442560	20177	30494											
EPB41L1	2036	broad.mit.edu	37	chr20	34778662	34778662	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcattgaccggcctgcaCccttctttgagcgttcttcc	7	17	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34778662C>T	ENST00000338074.2	+	11	1404	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	415					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)					CCGGCCTGCACCCTTCTTTGA	0.612																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1243-1245)Ccc>Tcc		erythrocyte membrane protein band 4.1-like 1							57	51	53					20																	34778662		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34778662C>T	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.1243C>T	20.37:g.34778662C>T	ENSP00000337168:p.Pro415Ser					EPB41L1_ENST00000373950.2_Missense_Mutation_p.P318S|EPB41L1_ENST00000202028.5_Missense_Mutation_p.P353S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.P415S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.P353S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.P384S	p.P415S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			11	1404	+	Breast(12;0.0239)		415					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1243C>T	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008744	0.93346	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.18	5.18	0.71444	FERM adjacent (FA) (1);	.	.	.	.	D	0.94833	0.8331	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.998;0.998;0.998;0.988	D	0.95367	0.8461	9	0.87932	D	0	.	17.6293	0.88102	0.0:1.0:0.0:0.0	.	415;415;384;318;318;353	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	S	353;318;415;318;353;384;415;415	ENSP00000202028:P353S;ENSP00000363061:P318S;ENSP00000399214:P353S;ENSP00000363057:P384S;ENSP00000337168:P415S;ENSP00000363052:P415S	ENSP00000202028:P353S	P	+	1	0	EPB41L1	34242076	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.776000	0.85560	2.556000	0.86216	0.561000	0.74099	CCC		0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		24	194	0	0	0	1	0	24	194					T	34778662	C	T	34778662	3	4	79	1	0	0	0	0	1	0	0	0	5170	507	18	2	1281	2	EPB41L1	20	34778662	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	195702	34778662	28246858	20178	30495											
EPB41L1	2036	broad.mit.edu	37	chr20	34782221	34782221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggatggcgagtctggggGgcaacggtcagaggctgagg	21	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34782221G>A	ENST00000338074.2	+	12	1549	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	463					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)					GAGTCTGGGGGGCAACGGTCA	0.602																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(1387-1389)gGg>gAg		erythrocyte membrane protein band 4.1-like 1							70	49	56					20																	34782221		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34782221G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1388G>A	20.37:g.34782221G>A	ENSP00000337168:p.Gly463Glu					EPB41L1_ENST00000373950.2_Missense_Mutation_p.G366E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G401E|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G463E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G401E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G432E	p.G463E	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			12	1549	+	Breast(12;0.0239)		463					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1388G>A	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968982|1.968982	0.34754|0.34754	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941|ENST00000451082	D;D;D;D;D;D|.	0.82984|.	-1.67;-1.61;-1.67;-1.64;-1.64;-1.64|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	1.320840|1.320840	0.04653|0.04653	N|N	0.407417|0.407417	T|T	0.58293|0.58293	0.2112|0.2112	N|N	0.14661|0.14661	0.345|0.345	0.44736|0.44736	D|D	0.997732|0.997732	B;B;B;B;P;B|.	0.37423|.	0.006;0.304;0.022;0.002;0.594;0.001|.	B;B;B;B;B;B|.	0.31614|.	0.004;0.036;0.022;0.005;0.133;0.003|.	T|T	0.45556|0.45556	-0.9253|-0.9253	10|7	0.02654|0.46703	T|T	1|0.11	.|.	18.3778|18.3778	0.90441|0.90441	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	463;463;432;366;366;401|.	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2|.	.;E41L1_HUMAN;.;.;.;.|.	E|S	401;366;463;366;401;432;37;463;463|41	ENSP00000202028:G401E;ENSP00000363061:G366E;ENSP00000399214:G401E;ENSP00000363057:G432E;ENSP00000337168:G463E;ENSP00000363052:G463E|.	ENSP00000202028:G401E|ENSP00000406464:G41S	G|G	+|+	2|1	0|0	EPB41L1|EPB41L1	34245635|34245635	0.991000|0.991000	0.36638|0.36638	0.091000|0.091000	0.20842|0.20842	0.909000|0.909000	0.53808|0.53808	5.449000|5.449000	0.66619|0.66619	2.578000|2.578000	0.87016|0.87016	0.655000|0.655000	0.94253|0.94253	GGG|GGC		0.602	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		39	152	0	0	0	1	0	39	152					A	34782221	G	A	34782221	3	1	79	1	0	0	0	0	1	0	0	0	5170	1232	43	2	1430	2	EPB41L1	20	34782221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3559	34782221	28243299	20179	30496											
C20orf4	25980	broad.mit.edu	37	chr20	34843658	34843658	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gagctccctgagggcatcgaGatgggctaactcggggagcg	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34843658G>A	ENST00000373932.3	+	4	1492	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	AAR2_ENST00000397286.3_Intron|AAR2_ENST00000320849.4_Silent_p.E382E	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	382																	AGGGCATCGAGATGGGCTAAC	0.617																																						ENST00000373932.3																			0											c.(1144-1146)gaG>gaA		AAR2 splicing factor homolog (S. cerevisiae)							55	59	58					20																	34843658		2203	4300	6503	SO:0001819	synonymous_variant	25980							g.chr20:34843658G>A		CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.1146G>A	20.37:g.34843658G>A						AAR2_ENST00000320849.4_Silent_p.E382E|AAR2_ENST00000397286.3_Intron	p.E382E	NM_015511.3	NP_056326.2					4	1492	+								E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Silent	SNP	ENST00000373932.3	37	c.1146G>A	CCDS13273.1																																																																																				0.617	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079001.2	NM_015511		9	331	0	0	0	1	0	9	331					A	34843658	G	A	34843658	2	1	79	1	0	0	0	0	0	0	0	1	2118	933	33	2		2	C20orf4	20	34843658	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61437	34843658	28181862	20180	30497											
DLGAP4	22839	broad.mit.edu	37	chr20	35068238	35068238	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggactacacccccgtcagCgacagcctcaacgactccag	9	17	2	0	rs527846901		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35068238C>T	ENST00000373907.2	+	4	1522	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	DLGAP4_ENST00000401952.2_Silent_p.S441S|DLGAP4_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000373913.3_Silent_p.S441S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	441					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.S441S(1)		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)				CCCCCGTCAGCGACAGCCTCA	0.632											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373913.3																			1	Substitution - coding silent(1)	p.S441S(1)	endometrium(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1321-1323)agC>agT		discs, large (Drosophila) homolog-associated protein 4							76	60	66					20																	35068238		2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35068238C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1323C>T	20.37:g.35068238C>T			OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	852	DLGAP4_ENST00000339266.5_Silent_p.S441S|DLGAP4_ENST00000373907.2_Silent_p.S441S|DLGAP4_ENST00000401952.2_Silent_p.S441S	p.S441S			Q9Y2H0	DLGP4_HUMAN			5	1803	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	441					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.1323C>T																																																																																					0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		25	156	0	0	0	1	0	25	156					T	35068238	C	T	35068238	2	4	79	1	0	0	0	0	0	0	0	1	4578	767	27	1		1	DLGAP4	20	35068238	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224580	35068238	27957282	20181	30498											
DLGAP4	22839	broad.mit.edu	37	chr20	35128033	35128033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaagaggagcccagtcccGctaccaaattccagtccatc	7	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128033G>A	ENST00000373907.2	+	8	2252	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	DLGAP4_ENST00000339266.5_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	685					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)				GCCCAGTCCCGCTACCAAATT	0.542																																						ENST00000339266.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2053-2055)Gct>Act		discs, large (Drosophila) homolog-associated protein 4							76	72	73					20																	35128033		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128033G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2053G>A	20.37:g.35128033G>A	ENSP00000363014:p.Ala685Thr					DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Intron|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A685T|DLGAP4_ENST00000373913.3_Intron|DLGAP4_ENST00000340491.4_Missense_Mutation_p.A146T	p.A685T	NM_001042486.2	NP_001035951.1	Q9Y2H0	DLGP4_HUMAN			7	2053	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	685					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2053G>A		.	.	.	.	.	.	.	.	.	.	G	11.31	1.601401	0.28534	.	.	ENSG00000080845	ENST00000373907;ENST00000339266;ENST00000340491	T;T;T	0.17213	2.29;2.29;2.29	5.25	5.25	0.73442	.	0.304616	0.33753	N	0.004589	T	0.07548	0.0190	.	.	.	0.26244	N	0.978822	B	0.06786	0.001	B	0.08055	0.003	T	0.24012	-1.0172	9	0.02654	T	1	.	13.5615	0.61793	0.0:0.1559:0.8441:0.0	.	146	Q9Y2H0-3	.	T	685;685;146	ENSP00000363014:A685T;ENSP00000341633:A685T;ENSP00000345700:A146T	ENSP00000341633:A685T	A	+	1	0	DLGAP4	34561447	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.076000	0.41548	2.449000	0.82847	0.650000	0.86243	GCT		0.542	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		19	93	0	0	0	1	0	19	93					A	35128033	G	A	35128033	3	1	79	1	0	0	0	0	1	0	0	0	4578	1087	38	1	2198	1	DLGAP4	20	35128033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	59795	35128033	27897487	20182	30499											
DLGAP4	22839	broad.mit.edu	37	chr20	35128676	35128676	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccaggatgccaatgactcaaGctgtaagtcatctgagagga	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128676G>T	ENST00000373907.2	+	9	2373	c.2174G>T	c.(2173-2175)aGc>aTc	p.S725I	DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000373913.3_Missense_Mutation_p.S722I|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	725					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)				AATGACTCAAGCTGTAAGTCA	0.612																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2164-2166)aGc>aTc		discs, large (Drosophila) homolog-associated protein 4							99	89	92					20																	35128676		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128676G>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2174G>T	20.37:g.35128676G>T	ENSP00000363014:p.Ser725Ile					DLGAP4_ENST00000339266.5_Missense_Mutation_p.S725I|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.S722I|DLGAP4_ENST00000373907.2_Missense_Mutation_p.S725I|DLGAP4_ENST00000340491.4_Missense_Mutation_p.S186I	p.S722I			Q9Y2H0	DLGP4_HUMAN			10	2645	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	725					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2165G>T		.	.	.	.	.	.	.	.	.	.	G	11.96	1.794305	0.31777	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.24	5.24	0.73138	.	0.215365	0.48286	D	0.000190	T	0.50922	0.1644	M	0.61703	1.905	0.32240	N	0.572839	D;B;D;P	0.57571	0.98;0.027;0.968;0.818	P;B;P;B	0.52031	0.646;0.015;0.688;0.311	T	0.57562	-0.7790	10	0.21014	T	0.42	.	15.9964	0.80250	0.0:0.0:1.0:0.0	.	31;186;725;722	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	I	722;722;725;725;186	ENSP00000363023:S722I;ENSP00000384954:S722I;ENSP00000363014:S725I;ENSP00000341633:S725I;ENSP00000345700:S186I	ENSP00000341633:S725I	S	+	2	0	DLGAP4	34562090	1.000000	0.71417	0.995000	0.50966	0.924000	0.55760	2.939000	0.48995	2.448000	0.82819	0.650000	0.86243	AGC		0.612	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		67	282	1	0	1.84395e-34	1	2.19361e-34	67	282					T	35128676	G	T	35128676	3	4	79	1	0	0	0	0	1	0	0	0	4578	971	34	3	2323	3	DLGAP4	20	35128676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	643	35128676	27896844	20183	30500											
DLGAP4	22839	broad.mit.edu	37	chr20	35128951	35128951	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgcaggcagaaacagagCggctggaaggctggtgctgc	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128951C>T	ENST00000373907.2	+	9	2648	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R814W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	817					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)				AGAAACAGAGCGGCTGGAAGG	0.607																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2440-2442)Cgg>Tgg		discs, large (Drosophila) homolog-associated protein 4							45	48	47					20																	35128951		2194	4287	6481	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35128951C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2449C>T	20.37:g.35128951C>T	ENSP00000363014:p.Arg817Trp					DLGAP4_ENST00000339266.5_Missense_Mutation_p.R817W|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R814W|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R817W|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R278W	p.R814W			Q9Y2H0	DLGP4_HUMAN			10	2920	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	817					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2440C>T		.	.	.	.	.	.	.	.	.	.	C	17.04	3.288095	0.59976	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.86	2.47	0.30058	.	0.049608	0.85682	D	0.000000	T	0.70701	0.3254	M	0.92169	3.28	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.998;0.297	D;D;P;B	0.76575	0.961;0.988;0.745;0.092	T	0.79843	-0.1632	10	0.87932	D	0	.	14.8936	0.70627	0.4214:0.5786:0.0:0.0	.	123;278;817;814	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	W	814;814;817;817;278	ENSP00000363023:R814W;ENSP00000384954:R814W;ENSP00000363014:R817W;ENSP00000341633:R817W;ENSP00000345700:R278W	ENSP00000341633:R817W	R	+	1	2	DLGAP4	34562365	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.053000	0.41326	0.718000	0.32166	0.655000	0.94253	CGG		0.607	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		61	350	0	0	0	1	0	61	350					T	35128951	C	T	35128951	3	4	79	1	0	0	0	0	1	0	0	0	4578	759	27	1	2598	1	DLGAP4	20	35128951	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275	35128951	27896569	20184	30501											
DLGAP4	22839	broad.mit.edu	37	chr20	35154346	35154346	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatatcagcatgaagttCgatgaactctaccacctcaa	8	10	3	2	rs147941086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35154346C>T	ENST00000373907.2	+	11	2896	c.2697C>T	c.(2695-2697)ttC>ttT	p.F899F	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000339266.5_Silent_p.F899F|DLGAP4_ENST00000373913.3_Silent_p.F896F|DLGAP4_ENST00000401952.2_Silent_p.F896F|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Silent_p.F360F|RP5-977B1.7_ENST00000433238.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	899					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)				GCATGAAGTTCGATGAACTCT	0.607																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2686-2688)ttC>ttT		discs, large (Drosophila) homolog-associated protein 4		T	,,	1,4405	2.1+/-5.4	0,1,2202	104	99	100		576,2688,1080	-1	1	20	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DLGAP4	NM_001042486.2,NM_014902.4,NM_183006.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	192/286,896/990,360/454	35154346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35154346C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2697C>T	20.37:g.35154346C>T						DLGAP4_ENST00000339266.5_Silent_p.F899F|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.F896F|DLGAP4_ENST00000373907.2_Silent_p.F899F|DLGAP4_ENST00000340491.4_Silent_p.F360F	p.F896F			Q9Y2H0	DLGP4_HUMAN			12	3168	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	899					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.2688C>T																																																																																					0.607	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		150	479	0	0	0	1	0	150	479					T	35154346	C	T	35154346	2	4	79	1	0	0	0	0	0	0	0	1	4578	883	31	1		1	DLGAP4	20	35154346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25395	35154346	27871174	20185	30502											
MYL9	10398	broad.mit.edu	37	chr20	35177499	35177499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcatccatgaggaccaCctccgggagctgctcaccac	10	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35177499C>T	ENST00000279022.2	+	4	470	c.366C>T	c.(364-366)caC>caT	p.H122H	RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	122	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGAGGACCACCTCCGGGAGC	0.592																																						ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(364-366)caC>caT		myosin, light chain 9, regulatory							76	69	71					20																	35177499		2203	4300	6503	SO:0001819	synonymous_variant	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177499C>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.366C>T	20.37:g.35177499C>T						RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H68H|RP5-977B1.7_ENST00000439595.1_RNA	p.H122H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			4	470	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	122			EF-hand 2.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	c.366C>T	CCDS13276.1																																																																																				0.592	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		40	205	0	0	0	1	0	40	205					T	35177499	C	T	35177499	2	4	79	1	0	0	0	0	0	0	0	1	10095	506	18	2		2	MYL9	20	35177499	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23153	35177499	27848021	20186	30503											
C20orf117	140710	broad.mit.edu	37	chr20	35433281	35433281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtcaccttcatgtcggCcagtgtcttgatgtactcat	9	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35433281C>T	ENST00000357779.3	-	10	2556	c.2230G>A	c.(2230-2232)Gcc>Acc	p.A744T	SOGA1_ENST00000279034.6_Missense_Mutation_p.A744T|SOGA1_ENST00000456801.2_Missense_Mutation_p.A585T|SOGA1_ENST00000237536.4_Missense_Mutation_p.A982T			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	744					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						TTCATGTCGGCCAGTGTCTTG	0.577																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2944-2946)Gcc>Acc		suppressor of glucose, autophagy associated 1							78	83	81					20																	35433281		2123	4250	6373	SO:0001583	missense	140710							g.chr20:35433281C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2230G>A	20.37:g.35433281C>T	ENSP00000350424:p.Ala744Thr					SOGA1_ENST00000456801.2_Missense_Mutation_p.A585T|SOGA1_ENST00000357779.3_Missense_Mutation_p.A744T|SOGA1_ENST00000279034.5_Missense_Mutation_p.A744T	p.A982T	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			10	3285	-			744					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2944G>A		.	.	.	.	.	.	.	.	.	.	C	18.27	3.587554	0.66105	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.19394	2.15;2.16;2.17;2.17	4.79	4.79	0.61399	.	0.062096	0.64402	D	0.000005	T	0.17238	0.0414	L	0.34521	1.04	0.35213	D	0.775365	P	0.48089	0.905	P	0.45276	0.475	T	0.10567	-1.0624	10	0.17832	T	0.49	-16.1719	10.4312	0.44409	0.3055:0.6945:0.0:0.0	.	744	O94964-4	.	T	982;744;585;744	ENSP00000237536:A982T;ENSP00000279034:A744T;ENSP00000413886:A585T;ENSP00000350424:A744T	ENSP00000237536:A982T	A	-	1	0	KIAA0889	34866695	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	1.968000	0.40500	2.478000	0.83669	0.557000	0.71058	GCC		0.577	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		20	222	0	0	0	1	0	20	222					T	35433281	C	T	35433281	3	4	79	1	0	0	0	0	1	0	0	0	2090	739	26	2	2127	2	C20orf117	20	35433281	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255782	35433281	27592239	20187	30504											
C20orf117	140710	broad.mit.edu	37	chr20	35443843	35443843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcatcagccaccaggacatCgatggccttactgaccaggg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35443843C>T	ENST00000357779.3	-	5	1614	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	SOGA1_ENST00000279034.6_Missense_Mutation_p.D430N|SOGA1_ENST00000456801.2_Missense_Mutation_p.D271N|SOGA1_ENST00000237536.4_Missense_Mutation_p.D668N			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	430					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						ACCAGGACATCGATGGCCTTA	0.647																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2002-2004)Gat>Aat		suppressor of glucose, autophagy associated 1							25	26	25					20																	35443843		2203	4300	6503	SO:0001583	missense	140710							g.chr20:35443843C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1288G>A	20.37:g.35443843C>T	ENSP00000350424:p.Asp430Asn					SOGA1_ENST00000456801.2_Missense_Mutation_p.D271N|SOGA1_ENST00000357779.3_Missense_Mutation_p.D430N|SOGA1_ENST00000279034.5_Missense_Mutation_p.D430N	p.D668N	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2343	-			430					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2002G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.427449	0.83667	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.22336	1.97;1.96;1.97;2.0	4.86	3.92	0.45320	.	0.289003	0.38605	N	0.001625	T	0.37320	0.0999	L	0.50333	1.59	0.33645	D	0.607728	D	0.89917	1.0	D	0.73708	0.981	T	0.50171	-0.8859	10	0.40728	T	0.16	-20.361	12.312	0.54933	0.0:0.9164:0.0:0.0836	.	430	O94964-4	.	N	668;430;271;430	ENSP00000237536:D668N;ENSP00000279034:D430N;ENSP00000413886:D271N;ENSP00000350424:D430N	ENSP00000237536:D668N	D	-	1	0	KIAA0889	34877257	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	3.353000	0.52247	1.274000	0.44362	0.561000	0.74099	GAT		0.647	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		15	69	0	0	0	1	0	15	69					T	35443843	C	T	35443843	3	4	79	1	0	0	0	0	1	0	0	0	2090	884	31	1	3089	1	C20orf117	20	35443843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10562	35443843	27581677	20188	30505											
C20orf117	140710	broad.mit.edu	37	chr20	35457524	35457524	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtctcgatgagccgctgaCgaagctcttcgttctcctcc	9	15	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35457524C>T	ENST00000357779.3	-	3	616	c.290G>A	c.(289-291)cGt>cAt	p.R97H	SOGA1_ENST00000279034.6_Missense_Mutation_p.R97H|SOGA1_ENST00000237536.4_Missense_Mutation_p.R335H			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	97					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						GAGCCGCTGACGAAGCTCTTC	0.612																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1003-1005)cGt>cAt		suppressor of glucose, autophagy associated 1							33	42	39					20																	35457524		2100	4227	6327	SO:0001583	missense	140710							g.chr20:35457524C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.290G>A	20.37:g.35457524C>T	ENSP00000350424:p.Arg97His					SOGA1_ENST00000357779.3_Missense_Mutation_p.R97H|SOGA1_ENST00000279034.5_Missense_Mutation_p.R97H	p.R335H	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			3	1345	-			97					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1004G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.132383	0.94473	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000357779	T;T;T	0.27890	1.64;1.78;1.81	4.53	4.53	0.55603	.	0.143240	0.45361	D	0.000370	T	0.55862	0.1947	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58769	-0.7578	10	0.49607	T	0.09	-32.9112	16.1985	0.82046	0.0:1.0:0.0:0.0	.	97	O94964-4	.	H	335;97;97	ENSP00000237536:R335H;ENSP00000279034:R97H;ENSP00000350424:R97H	ENSP00000237536:R335H	R	-	2	0	KIAA0889	34890938	1.000000	0.71417	0.995000	0.50966	0.667000	0.39255	5.772000	0.68889	2.330000	0.79161	0.650000	0.86243	CGT		0.612	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		5	37	0	0	0	1	0	5	37					T	35457524	C	T	35457524	3	4	79	1	0	0	0	0	1	0	0	0	2090	536	19	1	4095	1	C20orf117	20	35457524	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13681	35457524	27567996	20189	30506											
C20orf117	140710	broad.mit.edu	37	chr20	35467829	35467829	+	De_novo_Start_InFrame	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcatctcggcccgcaGctcctcaatctcgtcctgcg	8	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35467829G>T	ENST00000357779.3	-	0	315				SOGA1_ENST00000279034.6_De_novo_Start_InFrame|SOGA1_ENST00000237536.4_Missense_Mutation_p.L235M			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1						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						TCGGCCCGCAGCTCCTCAATC	0.607																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(703-705)Ctg>Atg		suppressor of glucose, autophagy associated 1							28	30	29					20																	35467829		2099	4232	6331			140710							g.chr20:35467829G>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395		20.37:g.35467829G>T						SOGA1_ENST00000357779.3_De_novo_Start_InFrame|SOGA1_ENST00000279034.5_De_novo_Start_InFrame	p.L235M	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			2	1044	-			617					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.703C>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.064364	0.76187	.	.	ENSG00000149639	ENST00000237536	T	0.33865	1.39	4.86	3.91	0.45181	.	0.000000	0.32301	N	0.006292	T	0.49029	0.1533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47761	-0.9092	7	0.41790	T	0.15	-12.9197	14.2381	0.65941	0.0:0.1505:0.8495:0.0	.	.	.	.	M	235	ENSP00000237536:L235M	ENSP00000237536:L235M	L	-	1	2	KIAA0889	34901243	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.448000	0.73469	1.255000	0.44051	0.491000	0.48974	CTG		0.607	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		51	170	1	0	3.39706e-21	1	3.82169e-21	51	170					T	35467829	G	T	35467829	1	4	79	1	0	1	0	0	0	0	0	0	2090	962	34	3		3	C20orf117	20	35467829	De_novo_Start_InFrame	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10305	35467829	27557691	20190	30507											
C20orf118	140711	broad.mit.edu	37	chr20	35504596	35504596	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagaggcctccgctggCgttacactcggctggtaagg	15	10	0	1	rs561508295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35504596C>T	ENST00000217320.3	+	1	63	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	TLDC2_ENST00000602922.1_Missense_Mutation_p.R7C	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	7																	CCTCCGCTGGCGTTACACTCG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21157	0.0		0.0	False		,,,				2504	0.0					ENST00000217320.3																			0											c.(19-21)Cgt>Tgt		TBC/LysM-associated domain containing 2							145	140	142					20																	35504596		2203	4300	6503	SO:0001583	missense	140711							g.chr20:35504596C>T	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.19C>T	20.37:g.35504596C>T	ENSP00000217320:p.Arg7Cys					TLDC2_ENST00000602922.1_Missense_Mutation_p.R7C	p.R7C	NM_080628.1	NP_542195.1					1	63	+								B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.19C>T	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478511	0.63849	.	.	ENSG00000101342	ENST00000217320	T	0.33654	1.4	4.38	4.38	0.52667	.	0.591399	0.15017	N	0.285194	T	0.50188	0.1601	L	0.51422	1.61	0.44432	D	0.997352	D	0.89917	1.0	P	0.61722	0.893	T	0.50021	-0.8876	10	0.87932	D	0	-10.5235	12.6137	0.56565	0.0:1.0:0.0:0.0	.	7	A0PJX2	CT118_HUMAN	C	7	ENSP00000217320:R7C	ENSP00000217320:R7C	R	+	1	0	C20orf118	34938010	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	3.138000	0.50570	2.440000	0.82611	0.561000	0.74099	CGT		0.632	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		119	569	0	0	0	1	0	119	569					T	35504596	C	T	35504596	3	4	79	1	0	0	0	0	1	0	0	0	2091	768	27	1	21	1	C20orf118	20	35504596	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36767	35504596	27520924	20191	30508											
C20orf118	140711	broad.mit.edu	37	chr20	35517697	35517697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggagacttgttccgcgggGgaagctccccttgcccgacc	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35517697G>A	ENST00000217320.3	+	6	600	c.556G>A	c.(556-558)Gga>Aga	p.G186R	TLDC2_ENST00000602922.1_Missense_Mutation_p.G186R	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	186	TLD.																GTTCCGCGGGGGAAGCTCCCC	0.617																																						ENST00000217320.3																			0											c.(556-558)Gga>Aga		TBC/LysM-associated domain containing 2							91	80	84					20																	35517697		2203	4300	6503	SO:0001583	missense	140711							g.chr20:35517697G>A	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.556G>A	20.37:g.35517697G>A	ENSP00000217320:p.Gly186Arg					TLDC2_ENST00000602922.1_Missense_Mutation_p.G186R	p.G186R	NM_080628.1	NP_542195.1					6	600	+								B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.556G>A	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	G	0.509	-0.867492	0.02590	.	.	ENSG00000101342	ENST00000217320	T	0.40225	1.04	5.41	4.46	0.54185	TLDc (2);	0.113706	0.64402	N	0.000012	T	0.18087	0.0434	N	0.04275	-0.24	0.39126	D	0.96176	B	0.02656	0.0	B	0.09377	0.004	T	0.14090	-1.0485	10	0.02654	T	1	-7.3498	11.9132	0.52751	0.0819:0.0:0.9181:0.0	.	186	A0PJX2	CT118_HUMAN	R	186	ENSP00000217320:G186R	ENSP00000217320:G186R	G	+	1	0	C20orf118	34951111	0.933000	0.31639	0.830000	0.32933	0.180000	0.23129	1.651000	0.37302	1.275000	0.44379	0.655000	0.94253	GGA		0.617	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		13	421	0	0	0	1	0	13	421					A	35517697	G	A	35517697	3	1	79	1	0	0	0	0	1	0	0	0	2091	1233	43	2	578	2	C20orf118	20	35517697	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13101	35517697	27507823	20192	30509											
SAMHD1	25939	broad.mit.edu	37	chr20	35547879	35547879	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgacaggcttaattccattaGaattaataaggtgctcaaac	7	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35547879G>T	ENST00000262878.4	-	7	939	c.740C>A	c.(739-741)tCt>tAt	p.S247Y	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	247	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATTCCATTAGAATTAATAAG	0.383																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(739-741)tCt>tAt		SAM domain and HD domain 1							95	89	91					20																	35547879		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35547879G>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.740C>A	20.37:g.35547879G>T	ENSP00000262878:p.Ser247Tyr					SAMHD1_ENST00000373694.5_Missense_Mutation_p.S32Y	p.S247Y	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			7	939	-		Myeloproliferative disorder(115;0.00878)	247			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.740C>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941492	0.73557	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.90004	-2.6;-2.47	5.82	4.87	0.63330	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);	0.452484	0.25625	N	0.029390	D	0.91126	0.7206	L	0.53780	1.695	0.41946	D	0.990633	D	0.55800	0.973	P	0.56343	0.796	D	0.91799	0.5450	10	0.72032	D	0.01	-18.0376	14.9983	0.71451	0.0701:0.0:0.9299:0.0	.	247	Q9Y3Z3	SAMH1_HUMAN	Y	247;32	ENSP00000262878:S247Y;ENSP00000362798:S32Y	ENSP00000262878:S247Y	S	-	2	0	SAMHD1	34981293	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	3.740000	0.55082	2.759000	0.94783	0.557000	0.71058	TCT		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		39	163	1	0	1.96642e-18	1	2.182e-18	39	163					T	35547879	G	T	35547879	3	4	79	1	0	0	0	0	1	0	0	0	13878	942	33	3	1180	3	SAMHD1	20	35547879	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30182	35547879	27477641	20193	30510											
SAMHD1	25939	broad.mit.edu	37	chr20	35563450	35563450	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	accctagactatgctcaaatCgattgtgtgaagctcctgga	9	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563450C>T	ENST00000262878.4	-	4	690	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	164	HD.				dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATGCTCAAATCGATTGTGTGA	0.428																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(490-492)cGa>cAa		SAM domain and HD domain 1							116	108	110					20																	35563450		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35563450C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.491G>A	20.37:g.35563450C>T	ENSP00000262878:p.Arg164Gln					SAMHD1_ENST00000373694.5_5'UTR	p.R164Q	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			4	690	-		Myeloproliferative disorder(115;0.00878)	164			HD.		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.491G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808521	0.96967	.	.	ENSG00000101347	ENST00000262878	D	0.99936	-8.3	6.05	6.05	0.98169	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96570	0.9422	10	0.87932	D	0	-14.9894	20.6013	0.99457	0.0:1.0:0.0:0.0	.	164	Q9Y3Z3	SAMH1_HUMAN	Q	164	ENSP00000262878:R164Q	ENSP00000262878:R164Q	R	-	2	0	SAMHD1	34996864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	CGA		0.428	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		92	313	0	0	0	1	0	92	313					T	35563450	C	T	35563450	3	4	79	1	0	0	0	0	1	0	0	0	13878	884	31	1	1441	1	SAMHD1	20	35563450	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15571	35563450	27462070	20194	30511											
SAMHD1	25939	broad.mit.edu	37	chr20	35563508	35563508	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcccagctgtttgatgtatcGaagacgttgaaattgaggtg	12	6	0	4	rs121434517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563508G>A	ENST00000262878.4	-	4	632	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	145			R -> Q (in AGS5). {ECO:0000269|PubMed:19525956}.		dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGATGTATCGAAGACGTTGA	0.433																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(433-435)Cga>Tga		SAM domain and HD domain 1							135	125	129					20																	35563508		2203	4300	6503	SO:0001587	stop_gained	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35563508G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.433C>T	20.37:g.35563508G>A	ENSP00000262878:p.Arg145*					SAMHD1_ENST00000373694.5_5'UTR	p.R145*	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			4	632	-		Myeloproliferative disorder(115;0.00878)	145		R -> Q (in AGS5).			B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Nonsense_Mutation	SNP	ENST00000262878.4	37	c.433C>T	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	38	7.160328	0.98103	.	.	ENSG00000101347	ENST00000262878	.	.	.	6.05	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0364	9.3019	0.37851	0.0657:0.0:0.6789:0.2553	.	.	.	.	X	145	.	ENSP00000262878:R145X	R	-	1	2	SAMHD1	34996922	1.000000	0.71417	0.967000	0.41034	0.983000	0.72400	3.147000	0.50639	1.571000	0.49722	0.650000	0.86243	CGA		0.433	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		75	281	0	0	0	1	0	75	281					A	35563508	G	A	35563508	4	1	79	1	0	0	0	0	0	1	0	0	13878	1066	37	1	1499	1	SAMHD1	20	35563508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58	35563508	27462012	20195	30512											
RBL1	5933	broad.mit.edu	37	chr20	35696435	35696435	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtggttcttcatatggatTttgaaatatatctaaaaaaa	7	3	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35696435T>G	ENST00000373664.3	-	3	511	c.445A>C	c.(445-447)Aat>Cat	p.N149H	RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	149					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCATATGGATTTTGAAATATA	0.328																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(445-447)Aat>Cat		retinoblastoma-like 1 (p107)							66	72	70					20																	35696435		2203	4298	6501	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35696435T>G	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.445A>C	20.37:g.35696435T>G	ENSP00000362768:p.Asn149His					RBL1_ENST00000344359.3_Missense_Mutation_p.N149H	p.N149H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			3	511	-		Myeloproliferative disorder(115;0.00878)	149					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.445A>C	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.19|15.19	2.759401|2.759401	0.49468|0.49468	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000525052|ENST00000373664;ENST00000344359	.|T;T	.|0.73789	.|-0.78;-0.78	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Domain of unknown function DUF3452, retinoblastoma-associated (1);	.|0.049235	.|0.85682	.|D	.|0.000000	D|D	0.82999|0.82999	0.5159|0.5159	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999982|0.999982	.|D;B	.|0.89917	.|1.0;0.368	.|D;B	.|0.74348	.|0.983;0.275	T|T	0.82133|0.82133	-0.0608|-0.0608	5|10	.|0.37606	.|T	.|0.19	-9.9237|-9.9237	15.4744|15.4744	0.75465|0.75465	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|149;149	.|P28749-2;P28749	.|.;RBL1_HUMAN	N|H	8|149	.|ENSP00000362768:N149H;ENSP00000343646:N149H	.|ENSP00000343646:N149H	K|N	-|-	3|1	2|0	RBL1|RBL1	35129849|35129849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.767000|2.767000	0.47637|0.47637	2.242000|2.242000	0.73789|0.73789	0.482000|0.482000	0.46254|0.46254	AAA|AAT		0.328	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		67	349	0	0	0	1	0	67	349					G	35696435	T	G	35696435	3	3	79	1	0	0	0	0	1	0	0	0	13159	1841	64	4	2850	4	RBL1	20	35696435	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	132927	35696435	27329085	20196	30513											
C20orf132	140699	broad.mit.edu	37	chr20	35731106	35731106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttctaggcagaggacctgCccatgagcttctgcaaccag	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35731106C>T	ENST00000400441.3	-	24	3112	c.3113G>A	c.(3112-3114)gGc>gAc	p.G1038D	MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.G867D			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	AGAGGACCTGCCCATGAGCTT	0.512																																						ENST00000400441.3																			0											c.(3112-3114)gGc>gAc		maestro heat-like repeat family member 8							257	248	251					20																	35731106		1991	4165	6156	SO:0001583	missense	140699							g.chr20:35731106C>T	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.3113G>A	20.37:g.35731106C>T	ENSP00000383291:p.Gly1038Asp					MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.G867D|MROH8_ENST00000441008.2_3'UTR	p.G1038D							24	3112	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.3113G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.175221|2.175221	0.38413|0.38413	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000400441;ENST00000217333	.|T;T	.|0.04234	.|4.07;3.67	5.32|5.32	0.312|0.312	0.15837|0.15837	.|.	.|0.878430	.|0.09964	.|N	.|0.733062	T|T	0.04452|0.04452	0.0122|0.0122	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32829	.|0.267;0.386	.|B;B	.|0.30495	.|0.054;0.116	T|T	0.40459|0.40459	-0.9562|-0.9562	5|10	.|0.48119	.|T	.|0.1	-0.0213|-0.0213	4.2003|4.2003	0.10462|0.10462	0.316:0.4853:0.0:0.1987|0.316:0.4853:0.0:0.1987	.|.	.|1038;872	.|E7ETR9;Q9H579-2	.|.;.	T|D	1065|1038;867	.|ENSP00000383291:G1038D;ENSP00000217333:G867D	.|ENSP00000217333:G867D	A|G	-|-	1|2	0|0	C20orf132|C20orf132	35164520|35164520	0.013000|0.013000	0.17824|0.17824	0.087000|0.087000	0.20705|0.20705	0.252000|0.252000	0.25951|0.25951	0.105000|0.105000	0.15333|0.15333	0.174000|0.174000	0.19809|0.19809	0.555000|0.555000	0.69702|0.69702	GCA|GGC		0.512	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		273	1193	0	0	0	1	0	273	1193					T	35731106	C	T	35731106	3	4	79	1	0	0	0	0	1	0	0	0	2093	739	26	2	19	2	C20orf132	20	35731106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34671	35731106	27294414	20197	30514											
C20orf132	140699	broad.mit.edu	37	chr20	35738747	35738747	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatgttaattttccccttGcactttttttcctaagtgtg	7	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35738747G>A	ENST00000441008.2	-	24	2784	c.2785C>T	c.(2785-2787)Caa>Taa	p.Q929*	MROH8_ENST00000466091.1_5'Flank|MROH8_ENST00000400441.3_Silent_p.C942C|MROH8_ENST00000217333.8_Silent_p.C771C			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	TTTTCCCCTTGCACTTTTTTT	0.403																																						ENST00000441008.2																			0											c.(2785-2787)Caa>Taa		maestro heat-like repeat family member 8							270	247	254					20																	35738747		1862	4108	5970	SO:0001587	stop_gained	140699							g.chr20:35738747G>A	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	ENST00000441008.2:c.2785C>T	20.37:g.35738747G>A	ENSP00000392144:p.Gln929*					MROH8_ENST00000217333.8_Silent_p.C771C|MROH8_ENST00000400441.3_Silent_p.C942C	p.Q929*							24	2784	-								Q5JYQ6	Nonsense_Mutation	SNP	ENST00000441008.2	37	c.2785C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.899390|6.899390	0.97920|0.97920	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000343811|ENST00000417458;ENST00000441008	.|.	.|.	.|.	5.6|5.6	2.52|2.52	0.30459|0.30459	.|.	.|.	.|.	.|.	.|.	T|.	0.52419|.	0.1733|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43925|.	-0.9361|.	4|.	.|.	.|.	.|.	-2.5753|-2.5753	5.3703|5.3703	0.16136|0.16136	0.1774:0.1679:0.6548:0.0|0.1774:0.1679:0.6548:0.0	.|.	.|.	.|.	.|.	V|X	969|570;929	.|.	.|.	A|Q	-|-	2|1	0|0	C20orf132|C20orf132	35172161|35172161	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	0.780000|0.780000	0.26760|0.26760	0.816000|0.816000	0.34421|0.34421	0.609000|0.609000	0.83330|0.83330	GCA|CAA		0.403	MROH8-203	KNOWN	basic	protein_coding	protein_coding		NM_152503		102	485	0	0	0	1	0	102	485					A	35738747	G	A	35738747	4	1	79	1	0	0	0	0	0	1	0	0	2093	1311	46	2	314	2	C20orf132	20	35738747	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7641	35738747	27286773	20198	30515											
SRC	6714	broad.mit.edu	37	chr20	36030016	36030016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctgcccagggagtttgctgGactttctcaagggggagaca	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36030016G>A	ENST00000373578.2	+	11	1400	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Missense_Mutation_p.D351N|SRC_ENST00000358208.4_Missense_Mutation_p.D351N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	351	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)	GAGTTTGCTGGACTTTCTCAA	0.632																																						ENST00000373578.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1051-1053)Gac>Aac		v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	Dasatinib(DB01254)						87	78	81					20																	36030016		2203	4300	6503	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36030016G>A	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.1051G>A	20.37:g.36030016G>A	ENSP00000362680:p.Asp351Asn					SRC_ENST00000477066.1_3'UTR|SRC_ENST00000358208.4_Missense_Mutation_p.D351N|SRC_ENST00000373567.2_Missense_Mutation_p.D351N|SRC_ENST00000373558.2_Missense_Mutation_p.D357N|SRC_ENST00000360723.4_Missense_Mutation_p.D357N|SRC_ENST00000445403.1_Missense_Mutation_p.D351N	p.D351N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN			11	1400	+		Myeloproliferative disorder(115;0.00878)	351			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1051G>A	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209156	0.79240	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	4.97	4.97	0.65823	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11793	0.0287	N	0.21142	0.635	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.06409	-1.0828	10	0.72032	D	0.01	.	15.7693	0.78152	0.0:0.0:1.0:0.0	.	351	P12931	SRC_HUMAN	N	351;351;357;351;351;357	ENSP00000408503:D351N;ENSP00000362680:D351N;ENSP00000353950:D357N;ENSP00000350941:D351N;ENSP00000362668:D351N;ENSP00000362659:D357N	ENSP00000350941:D351N	D	+	1	0	SRC	35463430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.487000	0.97945	2.565000	0.86533	0.655000	0.94253	GAC		0.632	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		57	341	0	0	0	1	0	57	341					A	36030016	G	A	36030016	3	1	79	1	0	0	0	0	1	0	0	0	15186	1174	41	2	1081	2	SRC	20	36030016	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	291269	36030016	26995504	20199	30516											
KIAA0406	9675	broad.mit.edu	37	chr20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-													gaaggctctaagcactgccaGgggggcgtcccgtgtgagtc					rs149568606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36627613delG	ENST00000373448.2	-	6	3008	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	924					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L924fs*37(1)		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						AGCACTGCCAGGGGGGCGTCC	0.577																																						ENST00000373448.2																			1	Deletion - Frameshift(1)	p.L924fs*37(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(2770-2772)tgfs		TELO2 interacting protein 1							76	73	74					20																	36627613		2203	4300	6503	SO:0001589	frameshift_variant	9675						binding	g.chr20:36627613delG	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.2770delC	20.37:g.36627613delG	ENSP00000362547:p.Leu924fs					TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs|TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs	p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			6	3008	-			924					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	ENST00000373448.2	37	c.2770delC	CCDS13300.1																																																																																				0.577	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		40	359						40	359	---	---	---	---	-	36627613	G	-	36627613	7	5	79	1	0	1	0	1	0	0	0	0	8203	991	35	0	515	0	KIAA0406	20	36627613	Frame_Shift_Del	DEL	G	TCGA-IB-7651-01A-11D-2154-08	597597	36627613	26397907	20200	30517											
KIAA0406	9675	broad.mit.edu	37	chr20	36640284	36640284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgacatcaagagcaaacaGaagtcttttcctagtgcata	8	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640284G>T	ENST00000373448.2	-	3	2173	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	TTI1_ENST00000373447.3_Missense_Mutation_p.F645L|TTI1_ENST00000449821.1_Missense_Mutation_p.F645L|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	645					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						AGAGCAAACAGAAGTCTTTTC	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1933-1935)ttC>ttA		TELO2 interacting protein 1							106	104	104					20																	36640284		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640284G>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1935C>A	20.37:g.36640284G>T	ENSP00000362547:p.Phe645Leu					TTI1_ENST00000373447.3_Missense_Mutation_p.F645L|TTI1_ENST00000449821.1_Missense_Mutation_p.F645L|TTI1_ENST00000487362.1_5'UTR	p.F645L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2173	-			645					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1935C>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173788	0.57692	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.63580	-0.05;-0.05;-0.05	5.23	-7.02	0.01589	Armadillo-type fold (1);	0.093144	0.85682	D	0.000000	T	0.75649	0.3878	M	0.77103	2.36	0.50313	D	0.999869	D	0.89917	1.0	D	0.87578	0.998	T	0.80390	-0.1402	10	0.66056	D	0.02	-9.5875	19.6634	0.95882	0.2446:0.0:0.7554:0.0	.	645	O43156	TTI1_HUMAN	L	645	ENSP00000362547:F645L;ENSP00000362546:F645L;ENSP00000407270:F645L	ENSP00000362546:F645L	F	-	3	2	TTI1	36073698	0.959000	0.32827	0.597000	0.28824	0.951000	0.60555	-0.060000	0.11712	-1.372000	0.02137	-0.302000	0.09304	TTC		0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		100	430	1	0	9.62396e-42	1	1.17021e-41	100	430					T	36640284	G	T	36640284	3	4	79	1	0	0	0	0	1	0	0	0	8203	933	33	3	1362	3	KIAA0406	20	36640284	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12671	36640284	26385236	20201	30518											
KIAA0406	9675	broad.mit.edu	37	chr20	36640365	36640365	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatgttactgttcatggaGcaaatagtgggacttggctt	12	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640365G>T	ENST00000373448.2	-	3	2092	c.1854C>A	c.(1852-1854)tgC>tgA	p.C618*	TTI1_ENST00000373447.3_Nonsense_Mutation_p.C618*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.C618*|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	618					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						TGTTCATGGAGCAAATAGTGG	0.458																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1852-1854)tgC>tgA		TELO2 interacting protein 1							139	136	137					20																	36640365		2203	4300	6503	SO:0001587	stop_gained	9675						binding	g.chr20:36640365G>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1854C>A	20.37:g.36640365G>T	ENSP00000362547:p.Cys618*					TTI1_ENST00000373447.3_Nonsense_Mutation_p.C618*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.C618*|TTI1_ENST00000487362.1_5'UTR	p.C618*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	2092	-			618					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	ENST00000373448.2	37	c.1854C>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322914	0.95708	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.23	3.16	0.36331	.	0.144292	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.7978	8.3783	0.32455	0.2575:0.0:0.7425:0.0	.	.	.	.	X	618	.	ENSP00000362546:C618X	C	-	3	2	TTI1	36073779	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.011000	0.49567	1.436000	0.47453	0.655000	0.94253	TGC		0.458	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		163	620	1	0	1.97036e-79	1	2.51827e-79	163	620					T	36640365	G	T	36640365	4	4	79	1	0	0	0	0	0	1	0	0	8203	963	34	3	1443	3	KIAA0406	20	36640365	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81	36640365	26385155	20202	30519											
RPRD1B	58490	broad.mit.edu	37	chr20	36662454	36662454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctcatccaccaccgcaaGcacgcgggacccatcgtctc	9	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36662454G>A	ENST00000373433.4	+	1	507	c.105G>A	c.(103-105)aaG>aaA	p.K35K	TTI1_ENST00000373447.3_5'Flank|TTI1_ENST00000373448.2_5'Flank	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	35	CID. {ECO:0000255|PROSITE- ProRule:PRU00724}.				dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCACCGCAAGCACGCGGGAC	0.632																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(103-105)aaG>aaA		regulation of nuclear pre-mRNA domain containing 1B							96	88	90					20																	36662454		2203	4300	6503	SO:0001819	synonymous_variant	58490							g.chr20:36662454G>A	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.105G>A	20.37:g.36662454G>A							p.K35K	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			1	507	+			35			CID.		Q1WDE7|Q6PKF4	Silent	SNP	ENST00000373433.4	37	c.105G>A	CCDS13301.1																																																																																				0.632	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		99	499	0	0	0	1	0	99	499					A	36662454	G	A	36662454	2	1	79	1	0	0	0	0	0	0	0	1	13666	962	34	2		2	RPRD1B	20	36662454	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22089	36662454	26363066	20203	30520											
RPRD1B	58490	broad.mit.edu	37	chr20	36694492	36694492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtacttagacaaagaggCagctgaacgtctttcaaaaa	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36694492C>T	ENST00000373433.4	+	6	1067	c.665C>T	c.(664-666)gCa>gTa	p.A222V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	222					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GACAAAGAGGCAGCTGAACGT	0.438																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(664-666)gCa>gTa		regulation of nuclear pre-mRNA domain containing 1B							66	77	73					20																	36694492		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36694492C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.665C>T	20.37:g.36694492C>T	ENSP00000362532:p.Ala222Val						p.A222V	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			6	1067	+			222					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.665C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102406	0.94245	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.65	5.65	0.86999	.	0.045472	0.85682	D	0.000000	T	0.53610	0.1807	M	0.65498	2.005	0.80722	D	1	P	0.47302	0.893	B	0.33454	0.164	T	0.59451	-0.7452	9	0.37606	T	0.19	-10.0649	18.891	0.92403	0.0:1.0:0.0:0.0	.	222	Q9NQG5	RPR1B_HUMAN	V	222;104	.	ENSP00000362532:A222V	A	+	2	0	RPRD1B	36127906	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GCA		0.438	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		16	521	0	0	0	1	0	16	521					T	36694492	C	T	36694492	3	4	79	1	0	0	0	0	1	0	0	0	13666	710	25	2	687	2	RPRD1B	20	36694492	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32038	36694492	26331028	20204	30521											
TGM2	7052	broad.mit.edu	37	chr20	36775176	36775176	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttgacgcgctggcagcCgtggttcttccagcgccgca	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36775176C>T	ENST00000361475.2	-	6	975	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TGM2_ENST00000536724.1_Missense_Mutation_p.G208S|TGM2_ENST00000536701.1_Missense_Mutation_p.G187S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	268					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGCTGGCAGCCGTGGTTCTTC	0.672																																						ENST00000361475.2																			0				endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(802-804)Ggc>Agc		transglutaminase 2	L-Glutamine(DB00130)						40	33	35					20																	36775176		2202	4297	6499	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36775176C>T	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.802G>A	20.37:g.36775176C>T	ENSP00000355330:p.Gly268Ser					TGM2_ENST00000536701.1_Missense_Mutation_p.G187S|TGM2_ENST00000536724.1_Missense_Mutation_p.G208S	p.G268S	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN			6	975	-		Myeloproliferative disorder(115;0.00878)	268					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.802G>A	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400596	0.62177	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724;ENST00000373403	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.67	1.6	0.23607	.	0.494953	0.23620	N	0.046259	D	0.89410	0.6707	L	0.49455	1.56	0.23016	N	0.998427	P;D;P;P;P;D	0.67145	0.914;0.996;0.954;0.821;0.93;0.988	B;P;B;B;P;P	0.62298	0.409;0.9;0.325;0.409;0.544;0.847	T	0.80434	-0.1384	10	0.29301	T	0.29	-0.4431	8.4057	0.32614	0.0:0.6299:0.0:0.3701	.	208;187;268;268;208;268	F5H6P0;B4DIT7;P21980-3;P21980-2;B4DTN7;P21980	.;.;.;.;.;TGM2_HUMAN	S	268;187;208;268	ENSP00000355330:G268S;ENSP00000444701:G187S;ENSP00000437479:G208S;ENSP00000362502:G268S	ENSP00000355330:G268S	G	-	1	0	TGM2	36208590	0.000000	0.05858	0.116000	0.21606	0.788000	0.44548	-0.137000	0.10389	0.070000	0.16634	0.563000	0.77884	GGC		0.672	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		14	225	0	0	0	1	0	14	225					T	36775176	C	T	36775176	3	4	79	1	0	0	0	0	1	0	0	0	15882	652	23	1	1325	1	TGM2	20	36775176	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	80684	36775176	26250344	20205	30522											
KIAA1755	85449	broad.mit.edu	37	chr20	36870077	36870077	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagtcactgttgatGgcctccagccattcttgggt	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36870077G>T	ENST00000279024.4	-	3	727	c.456C>A	c.(454-456)gcC>gcA	p.A152A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	152										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)				CACTGTTGATGGCCTCCAGCC	0.512																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(454-456)gcC>gcA		KIAA1755							106	107	107					20																	36870077		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36870077G>T	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.456C>A	20.37:g.36870077G>T							p.A152A	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			3	727	-		Myeloproliferative disorder(115;0.00874)	152					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.456C>A	CCDS33467.1																																																																																				0.512	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		15	514	1	0	2.23348e-06	1	2.30073e-06	15	514					T	36870077	G	T	36870077	2	4	79	1	0	0	0	0	0	0	0	1	8287	1335	47	3		3	KIAA1755	20	36870077	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94901	36870077	26155443	20206	30523											
LBP	3929	broad.mit.edu	37	chr20	36982727	36982727	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcaagggcatcagcAtttcggtcaacctcctgttg	10	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36982727A>C	ENST00000217407.2	+	4	573	c.412A>C	c.(412-414)Att>Ctt	p.I138L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	138					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GGGCATCAGCATTTCGGTCAA	0.562																																						ENST00000217407.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28						c.(412-414)Att>Ctt		lipopolysaccharide binding protein							107	91	97					20																	36982727		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36982727A>C		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.412A>C	20.37:g.36982727A>C	ENSP00000217407:p.Ile138Leu						p.I138L	NM_004139.3	NP_004130.2	P18428	LBP_HUMAN			4	573	+		Myeloproliferative disorder(115;0.00878)	138					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.412A>C	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.330310	0.60743	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.07444	3.19	4.77	3.67	0.42095	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.077383	0.53938	D	0.000056	T	0.22282	0.0537	M	0.71581	2.175	0.36181	D	0.849435	D	0.62365	0.991	D	0.67382	0.951	T	0.09292	-1.0681	10	0.72032	D	0.01	-12.4181	7.303	0.26432	0.901:0.0:0.099:0.0	.	138	P18428	LBP_HUMAN	L	138	ENSP00000217407:I138L	ENSP00000217407:I138L	I	+	1	0	LBP	36416141	0.989000	0.36119	0.997000	0.53966	0.602000	0.36980	2.884000	0.48562	0.962000	0.38057	0.459000	0.35465	ATT		0.562	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		10	514	0	0	0	1	0	10	514					C	36982727	A	C	36982727	3	2	79	1	0	0	0	0	1	0	0	0	8682	217	8	4	426	4	LBP	20	36982727	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	112650	36982727	26042793	20207	30524											
RALGAPB	57148	broad.mit.edu	37	chr20	37153514	37153514	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctaaactctcctcctttgttCtgctgtgacttgaaagggat	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37153514C>A	ENST00000262879.6	+	11	1997	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	571					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						CTCCTTTGTTCTGCTGTGACT	0.378																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1711-1713)ttC>ttA		Ral GTPase activating protein, beta subunit (non-catalytic)							298	273	281					20																	37153514		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153514C>A	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.1713C>A	20.37:g.37153514C>A	ENSP00000262879:p.Phe571Leu					RALGAPB_ENST00000397040.1_Missense_Mutation_p.F571L|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F571L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F349L	p.F571L			Q86X10	RLGPB_HUMAN			11	1997	+			571					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1713C>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970627	0.92919	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.62639	0.01;0.01	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72486	0.3466	L	0.39514	1.22	0.80722	D	1	D;P;P;P	0.67145	0.996;0.954;0.954;0.954	D;D;D;D	0.73380	0.98;0.943;0.943;0.943	T	0.67956	-0.5536	10	0.29301	T	0.29	.	19.4189	0.94712	0.0:1.0:0.0:0.0	.	399;571;571;571	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	L	571;571;571;349;571;399	ENSP00000262879:F571L;ENSP00000380233:F571L	ENSP00000262879:F571L	F	+	3	2	RALGAPB	36586928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.934000	0.63491	2.587000	0.87381	0.561000	0.74099	TTC		0.378	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		167	775	1	0	3.01732e-80	1	3.85853e-80	167	775					A	37153514	C	A	37153514	3	1	79	1	0	0	0	0	1	0	0	0	13065	912	32	3	1751	3	RALGAPB	20	37153514	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	170787	37153514	25872006	20208	30525											
ACTR5	79913	broad.mit.edu	37	chr20	37394145	37394145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacacctggagtggagaagcCggtcaccactgttcaggttt	12	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37394145C>T	ENST00000243903.4	+	6	1314	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	426					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)				GTGGAGAAGCCGGTCACCACT	0.473																																						ENST00000243903.4																			0				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12						c.(1276-1278)cCg>cTg		ARP5 actin-related protein 5 homolog (yeast)							131	134	133					20																	37394145		2203	4300	6503	SO:0001583	missense	79913				DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding	g.chr20:37394145C>T	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.1277C>T	20.37:g.37394145C>T	ENSP00000243903:p.Pro426Leu						p.P426L	NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN			6	1314	+		Myeloproliferative disorder(115;0.00878)	426					Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Missense_Mutation	SNP	ENST00000243903.4	37	c.1277C>T	CCDS13308.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087033	0.76642	.	.	ENSG00000101442	ENST00000243903	D	0.96265	-3.96	5.13	5.13	0.70059	.	0.216243	0.47852	D	0.000202	D	0.97368	0.9139	M	0.71871	2.18	0.58432	D	0.999998	D	0.76494	0.999	P	0.59595	0.86	D	0.97583	1.0112	10	0.56958	D	0.05	-15.2555	17.1119	0.86678	0.0:1.0:0.0:0.0	.	426	Q9H9F9	ARP5_HUMAN	L	426	ENSP00000243903:P426L	ENSP00000243903:P426L	P	+	2	0	ACTR5	36827559	1.000000	0.71417	0.955000	0.39395	0.906000	0.53458	3.616000	0.54174	2.553000	0.86117	0.455000	0.32223	CCG		0.473	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079205.2	NM_024855		99	575	0	0	0	1	0	99	575					T	37394145	C	T	37394145	3	4	79	1	0	0	0	0	1	0	0	0	215	652	23	1	1299	1	ACTR5	20	37394145	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	240631	37394145	25631375	20209	30526											
PPP1R16B	26051	broad.mit.edu	37	chr20	37524228	37524228	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcatcgacaactttgaGgaaattgtgaagctgctcct	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37524228G>T	ENST00000299824.1	+	4	531	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	114					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)				ACAACTTTGAGGAAATTGTGA	0.607																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(340-342)gaG>gaT		protein phosphatase 1, regulatory subunit 16B							120	99	106					20																	37524228		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37524228G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.342G>T	20.37:g.37524228G>T	ENSP00000299824:p.Glu114Asp					PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E114D	p.E114D	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			4	531	+		Myeloproliferative disorder(115;0.00878)	114					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.342G>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	17.02|17.02	3.281561|3.281561	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.64438|.	-0.1;-0.1|.	3.85|3.85	1.84|1.84	0.25277|0.25277	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13371|0.13371	0.34|0.34	0.45979|0.45979	D|D	0.998798|0.998798	P;P|.	0.37548|.	0.599;0.599|.	P;B|.	0.48334|.	0.574;0.444|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.14656|.	T|.	0.56|.	.|.	8.8866|8.8866	0.35406|0.35406	0.2651:0.0:0.7349:0.0|0.2651:0.0:0.7349:0.0	.|.	114;114|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	D|M	114|57	ENSP00000299824:E114D;ENSP00000362428:E114D|.	ENSP00000299824:E114D|.	E|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36957642|36957642	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	1.265000|1.265000	0.33027|0.33027	0.400000|0.400000	0.25396|0.25396	-0.161000|-0.161000	0.13427|0.13427	GAG|AGG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		21	185	1	0	1.96292e-10	1	2.08093e-10	21	185					T	37524228	G	T	37524228	3	4	79	1	0	0	0	0	1	0	0	0	12413	991	35	3	352	3	PPP1R16B	20	37524228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	130083	37524228	25501292	20210	30527											
PPP1R16B	26051	broad.mit.edu	37	chr20	37546928	37546928	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccagtatgcgctggccaaCggggatgtctggaaggtgca	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37546928C>T	ENST00000299824.1	+	11	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_ENST00000373331.2_Silent_p.N399N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	441					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)				CGCTGGCCAACGGGGATGTCT	0.607																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1321-1323)aaC>aaT		protein phosphatase 1, regulatory subunit 16B							156	149	151					20																	37546928		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37546928C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1323C>T	20.37:g.37546928C>T						PPP1R16B_ENST00000373331.2_Silent_p.N399N	p.N441N	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1512	+		Myeloproliferative disorder(115;0.00878)	441					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.1323C>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553955	0.13374	.	.	ENSG00000101445	ENST00000438192	.	.	.	5.3	-2.26	0.06867	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61471	-0.7056	4	.	.	.	.	12.7867	0.57510	0.0:0.5801:0.0:0.4199	.	.	.	.	M	342	.	.	T	+	2	0	PPP1R16B	36980342	0.131000	0.22433	0.990000	0.47175	0.795000	0.44927	-0.901000	0.04093	-0.251000	0.09542	-0.940000	0.02684	ACG		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		166	825	0	0	0	1	0	166	825					T	37546928	C	T	37546928	2	4	79	1	0	0	0	0	0	0	0	1	12413	535	19	1		1	PPP1R16B	20	37546928	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22700	37546928	25478592	20211	30528											
FAM83D	81610	broad.mit.edu	37	chr20	37580769	37580769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaacattctctttcctcgagGaactcaatctacagaagggt	8	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37580769G>A	ENST00000217429.4	+	4	1495	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	455	Ser-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCTCGAGGAACTCAATCT	0.473																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(1453-1455)gGa>gAa		family with sequence similarity 83, member D							116	113	114					20																	37580769		2015	4177	6192	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580769G>A	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1454G>A	20.37:g.37580769G>A	ENSP00000217429:p.Gly485Glu						p.G485E	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	1495	+		Myeloproliferative disorder(115;0.00878)	455			Ser-rich.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.1454G>A	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451330	0.43531	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.11821	2.74	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000027	T	0.28566	0.0707	M	0.72118	2.19	0.33666	D	0.610281	D	0.63880	0.993	P	0.58520	0.84	T	0.35968	-0.9767	10	0.42905	T	0.14	.	9.6484	0.39881	0.0762:0.1437:0.7801:0.0	.	455	Q9H4H8	FA83D_HUMAN	E	485;439	ENSP00000217429:G485E	ENSP00000217429:G485E	G	+	2	0	FAM83D	37014183	0.955000	0.32602	0.984000	0.44739	0.126000	0.20510	1.720000	0.38022	2.733000	0.93635	0.655000	0.94253	GGA		0.473	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			86	424	0	0	0	1	0	86	424					A	37580769	G	A	37580769	3	1	79	1	0	0	0	0	1	0	0	0	5661	1174	41	2	1468	2	FAM83D	20	37580769	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33841	37580769	25444751	20212	30529											
PLCG1	5335	broad.mit.edu	37	chr20	39802571	39802571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctaggatacagaGcagtgcctttgaagaacaac	8	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39802571G>A	ENST00000373271.1	+	30	3970	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	PLCG1_ENST00000373272.2_Missense_Mutation_p.A1189T|PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T|PLCG1_ENST00000608689.1_3'UTR	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1189					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)				AGGATACAGAGCAGTGCCTTT	0.587																																						ENST00000373272.2																			0				breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46						c.(3565-3567)Gca>Aca		phospholipase C, gamma 1							77	81	79					20																	39802571		2203	4300	6503	SO:0001583	missense	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802571G>A	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.3565G>A	20.37:g.39802571G>A	ENSP00000362368:p.Ala1189Thr					PLCG1_ENST00000244007.3_Missense_Mutation_p.A1189T|PLCG1_ENST00000373271.1_Missense_Mutation_p.A1189T|PLCG1_ENST00000461641.1_3'UTR	p.A1189T	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN			30	3970	+		Myeloproliferative disorder(115;0.00878)	1189					B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	ENST00000373271.1	37	c.3565G>A	CCDS13314.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372330	0.42003	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.13657	2.57;2.57;2.57	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.180410	0.49305	D	0.000154	T	0.14141	0.0342	L	0.40543	1.245	0.43088	D	0.994754	B;B;B	0.15930	0.013;0.015;0.007	B;B;B	0.16289	0.015;0.011;0.007	T	0.02333	-1.1175	10	0.54805	T	0.06	.	14.7289	0.69365	0.0:0.0:0.8545:0.1455	.	1189;1189;1189	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	T	1189	ENSP00000244007:A1189T;ENSP00000362368:A1189T;ENSP00000362369:A1189T	ENSP00000244007:A1189T	A	+	1	0	PLCG1	39235985	0.999000	0.42202	0.999000	0.59377	0.980000	0.70556	1.859000	0.39418	2.593000	0.87608	0.455000	0.32223	GCA		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		101	425	0	0	0	1	0	101	425					A	39802571	G	A	39802571	3	1	79	1	0	0	0	0	1	0	0	0	12077	971	34	2	3683	2	PLCG1	20	39802571	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2221802	39802571	23222949	20213	30530											
ZHX3	23051	broad.mit.edu	37	chr20	39831542	39831542	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattctcctcagccttcttgGtctcctcagcattcactttt	4	15	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39831542G>A	ENST00000309060.3	-	4	2430	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	672					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T672S(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCTTCTTGGTCTCCTCAGC	0.507																																						ENST00000309060.3																			1	Substitution - Missense(1)	p.T672S(1)	kidney(1)	endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2014-2016)aCc>aTc		zinc fingers and homeoboxes 3							142	143	143					20																	39831542		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831542G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2015C>T	20.37:g.39831542G>A	ENSP00000312222:p.Thr672Ile					ZHX3_ENST00000540170.1_Missense_Mutation_p.T672I|ZHX3_ENST00000544979.2_Missense_Mutation_p.T672I|ZHX3_ENST00000432768.2_Missense_Mutation_p.T672I|ZHX3_ENST00000560361.1_Missense_Mutation_p.T672I|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.T672I	p.T672I			Q9H4I2	ZHX3_HUMAN			4	2430	-		Myeloproliferative disorder(115;0.00425)	672					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.2015C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	6.876	0.531051	0.13127	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.12361	2.9;2.9;2.69	6.06	2.72	0.32119	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.475365	0.24182	N	0.040793	T	0.08802	0.0218	L	0.36672	1.1	0.19945	N	0.999941	B;B;P	0.36753	0.242;0.242;0.568	B;B;B	0.35655	0.065;0.071;0.207	T	0.19289	-1.0310	10	0.36615	T	0.2	-7.5284	2.984	0.05962	0.0838:0.2223:0.3897:0.3042	.	672;672;672	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	I	672;672;672;672;450	ENSP00000362360:T672I;ENSP00000442290:T672I;ENSP00000443783:T672I	ENSP00000312222:T672I	T	-	2	0	ZHX3	39264956	1.000000	0.71417	0.394000	0.26270	0.714000	0.41099	2.894000	0.48640	0.832000	0.34804	0.650000	0.86243	ACC		0.507	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		94	948	0	0	0	1	0	94	948					A	39831542	G	A	39831542	3	1	79	1	0	0	0	0	1	0	0	0	17730	1261	44	2	863	2	ZHX3	20	39831542	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28971	39831542	23193978	20214	30531											
ZHX3	23051	broad.mit.edu	37	chr20	39833400	39833400	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtactgctggggttctgtgCtgcctcactgctggcagcag	14	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39833400C>A	ENST00000309060.3	-	4	572	c.157G>T	c.(157-159)Gca>Tca	p.A53S	ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S|ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	53	Required for nuclear localization.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTTCTGTGCTGCCTCACTG	0.547																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(157-159)Gca>Tca		zinc fingers and homeoboxes 3							105	102	103					20																	39833400		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39833400C>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.157G>T	20.37:g.39833400C>A	ENSP00000312222:p.Ala53Ser					ZHX3_ENST00000540170.1_Missense_Mutation_p.A53S|ZHX3_ENST00000544979.2_Missense_Mutation_p.A53S|ZHX3_ENST00000432768.2_Missense_Mutation_p.A53S|ZHX3_ENST00000560361.1_Missense_Mutation_p.A53S|ZHX3_ENST00000557816.1_Missense_Mutation_p.A53S|ZHX3_ENST00000558993.1_Missense_Mutation_p.A53S|ZHX3_ENST00000559234.1_Missense_Mutation_p.A53S	p.A53S			Q9H4I2	ZHX3_HUMAN			4	572	-		Myeloproliferative disorder(115;0.00425)	53			Required for nuclear localization.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.157G>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329175	0.24167	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740;ENST00000373261;ENST00000436440	T;T;T;T;T	0.30182	1.54;2.97;2.97;2.75;1.54	5.61	2.6	0.31112	.	1.295780	0.04841	N	0.440561	T	0.21841	0.0526	N	0.25426	0.745	0.09310	N	1	B;B;B;P	0.38827	0.001;0.002;0.037;0.649	B;B;B;B	0.38428	0.007;0.007;0.02;0.273	T	0.07888	-1.0749	10	0.02654	T	1	-5.3323	10.506	0.44834	0.0:0.7867:0.0:0.2133	.	53;53;53;53	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	S	53	ENSP00000312222:A53S;ENSP00000362360:A53S;ENSP00000442290:A53S;ENSP00000443783:A53S;ENSP00000415498:A53S	ENSP00000312222:A53S	A	-	1	0	ZHX3	39266814	0.000000	0.05858	0.011000	0.14972	0.018000	0.09664	0.353000	0.20130	0.309000	0.22966	-0.140000	0.14226	GCA		0.547	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		95	459	1	0	1.2711e-46	1	1.5624e-46	95	459					A	39833400	C	A	39833400	3	1	79	1	0	0	0	0	1	0	0	0	17730	797	28	3	2721	3	ZHX3	20	39833400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1858	39833400	23192120	20215	30532											
CHD6	84181	broad.mit.edu	37	chr20	40033726	40033726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgtgcttgatagagacGccggagcagtggaagtgcag	16	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40033726G>A	ENST00000373233.3	-	37	7832	c.7655C>T	c.(7654-7656)gCg>gTg	p.A2552V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2552					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGATAGAGACGCCGGAGCAGT	0.547																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(7654-7656)gCg>gTg		chromodomain helicase DNA binding protein 6							110	108	109					20																	40033726		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033726G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7655C>T	20.37:g.40033726G>A	ENSP00000362330:p.Ala2552Val					CHD6_ENST00000480022.1_5'UTR	p.A2552V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	7832	-		Myeloproliferative disorder(115;0.00425)	2552					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.7655C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222351	0.58560	.	.	ENSG00000124177	ENST00000373233	D	0.86956	-2.19	5.55	5.55	0.83447	.	0.209857	0.33834	N	0.004520	T	0.80949	0.4722	L	0.52573	1.65	0.80722	D	1	P	0.41131	0.739	B	0.28553	0.091	T	0.80736	-0.1249	10	0.33141	T	0.24	-9.0735	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	2552	Q8TD26	CHD6_HUMAN	V	2552	ENSP00000362330:A2552V	ENSP00000362330:A2552V	A	-	2	0	CHD6	39467140	0.993000	0.37304	0.887000	0.34795	0.882000	0.50991	4.988000	0.63863	2.894000	0.99253	0.591000	0.81541	GCG		0.547	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			20	700	0	0	0	1	0	20	700					A	40033726	G	A	40033726	3	1	79	1	0	0	0	0	1	0	0	0	3338	1087	38	1	496	1	CHD6	20	40033726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	200326	40033726	22991794	20216	30533											
CHD6	84181	broad.mit.edu	37	chr20	40045244	40045244	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtggatctgggccGccaatgctgcgccgttgctg	13	13	2	0	rs552643669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40045244G>A	ENST00000373233.3	-	33	6647	c.6470C>T	c.(6469-6471)gCg>gTg	p.A2157V	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GATCTGGGCCGCCAATGCTGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17758	0.0		0.0	False		,,,				2504	0.001					ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6469-6471)gCg>gTg		chromodomain helicase DNA binding protein 6							97	86	90					20																	40045244		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045244G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6470C>T	20.37:g.40045244G>A	ENSP00000362330:p.Ala2157Val						p.A2157V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			33	6647	-		Myeloproliferative disorder(115;0.00425)	2157					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6470C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	2.525	-0.309776	0.05458	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.46	2.2	0.27929	.	0.217621	0.32231	N	0.006392	T	0.49695	0.1572	N	0.00197	-1.87	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.52426	-0.8577	10	0.13853	T	0.58	-7.7668	7.6075	0.28110	0.5998:0.0:0.4002:0.0	.	2157	Q8TD26	CHD6_HUMAN	V	2157	ENSP00000362330:A2157V	ENSP00000362330:A2157V	A	-	2	0	CHD6	39478658	0.006000	0.16342	0.838000	0.33150	0.043000	0.13939	0.921000	0.28718	0.248000	0.21435	-0.126000	0.14955	GCG		0.552	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			18	509	0	0	0	1	0	18	509					A	40045244	G	A	40045244	3	1	79	1	0	0	0	0	1	0	0	0	3338	1087	38	1	1697	1	CHD6	20	40045244	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11518	40045244	22980276	20217	30534											
CHD6	84181	broad.mit.edu	37	chr20	40050062	40050062	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agttcccatctttgcttattGagatggtaataacatctttt	6	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40050062G>A	ENST00000373233.3	-	31	5390	c.5213C>T	c.(5212-5214)tCa>tTa	p.S1738L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(5212-5214)tCa>tTa		chromodomain helicase DNA binding protein 6							89	92	91					20																	40050062		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40050062G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5213C>T	20.37:g.40050062G>A	ENSP00000362330:p.Ser1738Leu						p.S1738L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	5390	-		Myeloproliferative disorder(115;0.00425)	1738					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5213C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	4.040	0.005104	0.07866	.	.	ENSG00000124177	ENST00000373233	D	0.85773	-2.03	6.03	5.0	0.66597	.	0.290117	0.25352	N	0.031290	T	0.72244	0.3436	N	0.12746	0.255	0.22034	N	0.999407	B	0.02656	0.0	B	0.04013	0.001	T	0.60850	-0.7181	10	0.41790	T	0.15	-11.2026	11.7484	0.51835	0.1082:0.0:0.8918:0.0	.	1738	Q8TD26	CHD6_HUMAN	L	1738	ENSP00000362330:S1738L	ENSP00000362330:S1738L	S	-	2	0	CHD6	39483476	0.275000	0.24201	0.073000	0.20177	0.002000	0.02628	1.859000	0.39418	2.861000	0.98227	0.655000	0.94253	TCA		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			24	460	0	0	0	1	0	24	460					A	40050062	G	A	40050062	3	1	79	1	0	0	0	0	1	0	0	0	3338	1294	45	2	2962	2	CHD6	20	40050062	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4818	40050062	22975458	20218	30535											
CHD6	84181	broad.mit.edu	37	chr20	40052176	40052176	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gacagacattccggcacatgGccacaaaactataaaaatac	6	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40052176G>T	ENST00000373233.3	-	30	4688	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1504					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCGGCACATGGCCACAAAACT	0.418																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(4510-4512)gCc>gAc		chromodomain helicase DNA binding protein 6							232	255	247					20																	40052176		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052176G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4511C>A	20.37:g.40052176G>T	ENSP00000362330:p.Ala1504Asp						p.A1504D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			30	4688	-		Myeloproliferative disorder(115;0.00425)	1504					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4511C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380218	0.82682	.	.	ENSG00000124177	ENST00000373233	D	0.89617	-2.54	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.194968	0.36482	N	0.002566	D	0.92773	0.7702	M	0.82323	2.585	0.80722	D	1	P	0.39883	0.693	P	0.45794	0.493	D	0.92712	0.6184	10	0.87932	D	0	-8.0985	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1504	Q8TD26	CHD6_HUMAN	D	1504	ENSP00000362330:A1504D	ENSP00000362330:A1504D	A	-	2	0	CHD6	39485590	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.654000	0.83653	2.884000	0.98904	0.655000	0.94253	GCC		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			313	1332	1	0	5.90345e-71	1	7.50243e-71	313	1332					T	40052176	G	T	40052176	3	4	79	1	0	0	0	0	1	0	0	0	3338	1203	42	3	3668	3	CHD6	20	40052176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2114	40052176	22973344	20219	30536											
CHD6	84181	broad.mit.edu	37	chr20	40068746	40068746	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtgctgggtctgctcGcatggcattgtacctttcat	11	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40068746G>A	ENST00000373233.3	-	26	4078	c.3901C>T	c.(3901-3903)Cga>Tga	p.R1301*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1301					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGTCTGCTCGCATGGCATTG	0.463																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3901-3903)Cga>Tga		chromodomain helicase DNA binding protein 6							113	103	106					20																	40068746		2203	4300	6503	SO:0001587	stop_gained	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40068746G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3901C>T	20.37:g.40068746G>A	ENSP00000362330:p.Arg1301*					CHD6_ENST00000309279.7_Nonsense_Mutation_p.R784*	p.R1301*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			26	4078	-		Myeloproliferative disorder(115;0.00425)	1301					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Nonsense_Mutation	SNP	ENST00000373233.3	37	c.3901C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	44	10.586576	0.99432	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	.	.	.	5.74	2.59	0.31030	.	0.000000	0.45606	D	0.000357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9327	14.8072	0.69965	0.0:0.0:0.6242:0.3758	.	.	.	.	X	1301;784	.	ENSP00000308684:R784X	R	-	1	2	CHD6	39502160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.412000	0.52679	0.757000	0.33036	0.563000	0.77884	CGA		0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			66	244	0	0	0	1	0	66	244					A	40068746	G	A	40068746	4	1	79	1	0	0	0	0	0	1	0	0	3338	1095	38	1	4294	1	CHD6	20	40068746	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16570	40068746	22956774	20220	30537											
CHD6	84181	broad.mit.edu	37	chr20	40081484	40081484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcctttcgtctgagtcGctgtctaactctgaaaactc	10	11	3	2	rs375979334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40081484G>A	ENST00000373233.3	-	21	3396	c.3219C>T	c.(3217-3219)agC>agT	p.S1073S	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1073					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTCTGAGTCGCTGTCTAACT	0.537													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19578	0.0		0.0	False		,,,				2504	0.0					ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(3217-3219)agC>agT		chromodomain helicase DNA binding protein 6		G		0,4406		0,0,2203	149	119	129		3219	-1.5	1	20		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHD6	NM_032221.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1073/2716	40081484	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40081484G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3219C>T	20.37:g.40081484G>A						CHD6_ENST00000309279.7_Intron	p.S1073S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			21	3396	-		Myeloproliferative disorder(115;0.00425)	1073					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.3219C>T	CCDS13317.1																																																																																				0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	426	0	0	0	1	0	10	426					A	40081484	G	A	40081484	2	1	79	1	0	0	0	0	0	0	0	1	3338	1078	38	1		1	CHD6	20	40081484	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12738	40081484	22944036	20221	30538											
CHD6	84181	broad.mit.edu	37	chr20	40111947	40111947	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagctttgacacaagtctcAccttctctggatgaggtaat	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40111947A>G	ENST00000373233.3	-	16	2646		c.e16+1		CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CACAAGTCTCACCTTCTCTGG	0.413																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.e16+1		chromodomain helicase DNA binding protein 6							78	69	72					20																	40111947		2203	4300	6503	SO:0001630	splice_region_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40111947A>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2468+1T>C	20.37:g.40111947A>G						CHD6_ENST00000309279.7_Intron		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			16	2646	-		Myeloproliferative disorder(115;0.00425)						Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Splice_Site	SNP	ENST00000373233.3	37		CCDS13317.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.316159	0.81469	.	.	ENSG00000124177	ENST00000373233	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2157	0.73264	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD6	39545361	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.055000	0.93873	2.241000	0.73720	0.533000	0.62120	.		0.413	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		Intron	35	150	0	0	0	1	0	35	150					G	40111947	A	G	40111947	5	3	79	1	0	0	0	0	0	0	1	0	3338	173	6	4	5765	4	CHD6	20	40111947	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30463	40111947	22913573	20222	30539											
CHD6	84181	broad.mit.edu	37	chr20	40118638	40118638	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttttccctaggcccatcTcatcagccaaaatacagttt	6	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40118638T>C	ENST00000373233.3	-	12	1637	c.1460A>G	c.(1459-1461)gAg>gGg	p.E487G	CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	487	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TAGGCCCATCTCATCAGCCAA	0.398																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1459-1461)gAg>gGg		chromodomain helicase DNA binding protein 6							118	131	127					20																	40118638		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118638T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1460A>G	20.37:g.40118638T>C	ENSP00000362330:p.Glu487Gly					CHD6_ENST00000309279.7_Missense_Mutation_p.E487G	p.E487G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			12	1637	-		Myeloproliferative disorder(115;0.00425)	487			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1460A>G	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.689115|4.689115	0.88735|0.88735	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.95788|.	-3.81;-3.81|.	5.27|5.27	5.27|5.27	0.74061|0.74061	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.56097|.	D|.	0.000027|.	D|D	0.88897|0.88897	0.6562|0.6562	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	-25.288|-25.288	15.4838|15.4838	0.75548|0.75548	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	487|.	Q8TD26|.	CHD6_HUMAN|.	G|G	487|190	ENSP00000362330:E487G;ENSP00000308684:E487G|.	ENSP00000308684:E487G|.	E|R	-|-	2|1	0|2	CHD6|CHD6	39552052|39552052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.967000|7.967000	0.87967|0.87967	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	GAG|AGA		0.398	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			28	730	0	0	0	1	0	28	730					C	40118638	T	C	40118638	3	2	79	1	0	0	0	0	1	0	0	0	3338	1551	54	4	6791	4	CHD6	20	40118638	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6691	40118638	22906882	20223	30540											
PTPRT	11122	broad.mit.edu	37	chr20	40735471	40735471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcccggagctcacgcacGcagttgaagatgtccaccac	12	14	1	2	rs189118400	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	ENST00000373187.1	-	24	3344	c.3345C>T	c.(3343-3345)tgC>tgT	p.C1115C	PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373198.4_Silent_p.C1134C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582													G|||	6	0.00119808	0.0	0.0	5008	,	,		21259	0.006		0.0	False		,,,				2504	0.0					ENST00000373198.3																			0				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						c.(3409-3411)tgC>tgT		protein tyrosine phosphatase, receptor type, T							95	105	102					20																	40735471		2114	4235	6349	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735471G>A	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.3345C>T	20.37:g.40735471G>A						PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373187.1_Silent_p.C1115C	p.C1137C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			25	3646	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1115			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.3411C>T	CCDS42874.1																																																																																				0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			115	480	0	0	0	1	0	115	480					A	40735471	G	A	40735471	2	1	79	1	0	0	0	0	0	0	0	1	12862	1079	38	1		1	PTPRT	20	40735471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	616833	40735471	22290049	20224	30541											
PTPRT	11122	broad.mit.edu	37	chr20	40739056	40739056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagaaggccagtggcataGcagggaacgccgtggtcagg	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	ENST00000373187.1	-	23	3170	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373198.4_Silent_p.C1076C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1057	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTGGCATAGCAGGGAACGC	0.597																																						ENST00000373198.3																			0				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						c.(3235-3237)tgC>tgT		protein tyrosine phosphatase, receptor type, T							60	70	67					20																	40739056		1974	4138	6112	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40739056G>A	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.3171C>T	20.37:g.40739056G>A						PTPRT_ENST00000373190.1_Silent_p.C1056C|PTPRT_ENST00000356100.2_Silent_p.C1066C|PTPRT_ENST00000373184.1_Silent_p.C1067C|PTPRT_ENST00000373193.3_Silent_p.C1060C|PTPRT_ENST00000373201.1_Silent_p.C1047C|PTPRT_ENST00000373187.1_Silent_p.C1057C	p.C1079C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			24	3472	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1057			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.3237C>T	CCDS42874.1																																																																																				0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			49	283	0	0	0	1	0	49	283					A	40739056	G	A	40739056	2	1	79	1	0	0	0	0	0	0	0	1	12862	963	34	2		2	PTPRT	20	40739056	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3585	40739056	22286464	20225	30542											
PTPRT	11122	broad.mit.edu	37	chr20	40748583	40748583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggcacttaccttgagtcGcaatgtagtgccgaggtcga	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	ENST00000373187.1	-	20	2875	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A978V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	959	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTTGAGTCGCAATGTAGTG	0.507																																						ENST00000373198.3																			0				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						c.(2941-2943)gCg>gTg		protein tyrosine phosphatase, receptor type, T							135	134	134					20																	40748583		1914	4131	6045	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40748583G>A	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.2876C>T	20.37:g.40748583G>A	ENSP00000362283:p.Ala959Val					PTPRT_ENST00000373190.1_Missense_Mutation_p.A958V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A968V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A962V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A949V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A959V	p.A981V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			21	3177	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	959			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2942C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704283	0.96812	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.6	5.6	0.85130	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.955	T	0.72513	-0.4270	10	0.87932	D	0	.	19.6134	0.95619	0.0:0.0:1.0:0.0	.	981;959	O14522-1;O14522	.;PTPRT_HUMAN	V	958;959;962;968;981;949;949	ENSP00000362286:A958V;ENSP00000362283:A959V;ENSP00000362289:A962V;ENSP00000348408:A968V;ENSP00000362294:A981V;ENSP00000362280:A949V;ENSP00000362297:A949V	ENSP00000348408:A968V	A	-	2	0	PTPRT	40181997	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.792000	0.99085	2.631000	0.89168	0.655000	0.94253	GCG		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			93	449	0	0	0	1	0	93	449					A	40748583	G	A	40748583	3	1	79	1	0	0	0	0	1	0	0	0	12862	1087	38	1	1497	1	PTPRT	20	40748583	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9527	40748583	22276937	20226	30543											
PTPRT	11122	broad.mit.edu	37	chr20	40827933	40827933	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttcatcattgcggctgGcgctgagcttggtggtgggt	16	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	ENST00000373187.1	-	16	2437	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373198.4_Missense_Mutation_p.A832V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	813					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)				ATTGCGGCTGGCGCTGAGCTT	0.572																																						ENST00000373198.3																			0				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						c.(2503-2505)gCc>gTc		protein tyrosine phosphatase, receptor type, T							233	241	238					20																	40827933		2052	4202	6254	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827933G>A	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.2438C>T	20.37:g.40827933G>A	ENSP00000362283:p.Ala813Val					PTPRT_ENST00000373190.1_Missense_Mutation_p.A813V|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822V|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816V|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803V|PTPRT_ENST00000373187.1_Missense_Mutation_p.A813V	p.A835V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2739	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	813					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2504C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886738	0.51908	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35048	1.36;1.36;1.35;1.35;1.35;1.33;1.33	6.03	4.09	0.47781	.	0.964896	0.08646	N	0.914735	T	0.29524	0.0736	N	0.22421	0.69	0.22199	N	0.999295	B;B	0.21821	0.061;0.021	B;B	0.22152	0.038;0.017	T	0.30208	-0.9986	10	0.52906	T	0.07	.	12.3664	0.55230	0.1346:0.0:0.8654:0.0	.	835;813	O14522-1;O14522	.;PTPRT_HUMAN	V	813;813;816;822;835;803;803	ENSP00000362286:A813V;ENSP00000362283:A813V;ENSP00000362289:A816V;ENSP00000348408:A822V;ENSP00000362294:A835V;ENSP00000362280:A803V;ENSP00000362297:A803V	ENSP00000348408:A822V	A	-	2	0	PTPRT	40261347	1.000000	0.71417	0.625000	0.29200	0.909000	0.53808	5.046000	0.64226	0.884000	0.36064	0.655000	0.94253	GCC		0.572	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			180	1517	0	0	0	1	0	180	1517					A	40827933	G	A	40827933	3	1	79	1	0	0	0	0	1	0	0	0	12862	1203	42	2	1951	2	PTPRT	20	40827933	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79350	40827933	22197587	20227	30544											
PTPRT	11122	broad.mit.edu	37	chr20	40827959	40827959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttggtggtgggtttgtcGgcagaggccacaggccccat	16	10	0	1	rs368232579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827959G>A	ENST00000373187.1	-	16	2411	c.2412C>T	c.(2410-2412)gcC>gcT	p.A804A	PTPRT_ENST00000373184.1_Silent_p.A794A|PTPRT_ENST00000373190.1_Silent_p.A804A|PTPRT_ENST00000373193.3_Silent_p.A807A|PTPRT_ENST00000356100.2_Silent_p.A813A|PTPRT_ENST00000373201.1_Silent_p.A794A|PTPRT_ENST00000373198.4_Silent_p.A823A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	804					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)				TGGGTTTGTCGGCAGAGGCCA	0.557																																						ENST00000373198.3																			0				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						c.(2476-2478)gcC>gcT		protein tyrosine phosphatase, receptor type, T		G	,	0,4068		0,0,2034	173	183	180		2412,2469	-10	0.1	20		180	2,8386		0,2,4192	no	coding-synonymous,coding-synonymous	PTPRT	NM_007050.5,NM_133170.3	,	0,2,6226	AA,AG,GG		0.0238,0.0,0.0161	,	804/1442,823/1461	40827959	2,12454	2034	4194	6228	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827959G>A	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.2412C>T	20.37:g.40827959G>A						PTPRT_ENST00000373190.1_Silent_p.A804A|PTPRT_ENST00000356100.2_Silent_p.A813A|PTPRT_ENST00000373184.1_Silent_p.A794A|PTPRT_ENST00000373193.3_Silent_p.A807A|PTPRT_ENST00000373201.1_Silent_p.A794A|PTPRT_ENST00000373187.1_Silent_p.A804A	p.A826A	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2713	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	804					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2478C>T	CCDS42874.1																																																																																				0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			273	1083	0	0	0	1	0	273	1083					A	40827959	G	A	40827959	2	1	79	1	0	0	0	0	0	0	0	1	12862	1103	39	1		1	PTPRT	20	40827959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	40827959	22197561	20228	30545											
PTPRT	11122	broad.mit.edu	37	chr20	40980807	40980807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaaggaataggtgGtccctgggtacagacccaca	14	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	ENST00000373187.1	-	10	1678	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373198.4_Missense_Mutation_p.T560I			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	560	Fibronectin type-III 3. {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)				GGAATAGGTGGTCCCTGGGTA	0.557																																						ENST00000373198.3																			0				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						c.(1678-1680)aCc>aTc		protein tyrosine phosphatase, receptor type, T							82	88	86					20																	40980807		1946	4134	6080	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40980807G>A	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.1679C>T	20.37:g.40980807G>A	ENSP00000362283:p.Thr560Ile					PTPRT_ENST00000373190.1_Missense_Mutation_p.T560I|PTPRT_ENST00000356100.2_Missense_Mutation_p.T560I|PTPRT_ENST00000373184.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373193.3_Missense_Mutation_p.T560I|PTPRT_ENST00000373201.1_Missense_Mutation_p.T560I|PTPRT_ENST00000373187.1_Missense_Mutation_p.T560I	p.T560I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			10	1914	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	560			Fibronectin type-III 3.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1679C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102881	0.94245	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.049111	0.85682	D	0.000000	D	0.84687	0.5527	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.989	D	0.86715	0.1938	10	0.87932	D	0	.	20.5541	0.99286	0.0:0.0:1.0:0.0	.	560;560	O14522-1;O14522	.;PTPRT_HUMAN	I	560	ENSP00000362286:T560I;ENSP00000362283:T560I;ENSP00000362289:T560I;ENSP00000348408:T560I;ENSP00000362294:T560I;ENSP00000362280:T560I;ENSP00000362297:T560I	ENSP00000348408:T560I	T	-	2	0	PTPRT	40414221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.864000	0.98301	0.551000	0.68910	ACC		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			87	374	0	0	0	1	0	87	374					A	40980807	G	A	40980807	3	1	79	1	0	0	0	0	1	0	0	0	12862	1261	44	2	2795	2	PTPRT	20	40980807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152848	40980807	22044713	20229	30546											
PTPRT	11122	broad.mit.edu	37	chr20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagaagtagtaatggaagtCgatgcagtgggtgtcattct	15	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	ENST00000373187.1	-	3	309	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373198.4_Missense_Mutation_p.D104N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	104	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)				TAATGGAAGTCGATGCAGTGG	0.567																																						ENST00000373198.3																			0				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						c.(310-312)Gac>Aac		protein tyrosine phosphatase, receptor type, T							53	57	56					20																	41420011		1947	4162	6109	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41420011C>T	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.310G>A	20.37:g.41420011C>T	ENSP00000362283:p.Asp104Asn					PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D104N	p.D104N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			3	545	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	104			MAM.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.310G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783982	0.70222	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.67	5.67	0.87782	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.051333	0.85682	D	0.000000	T	0.03915	0.0110	L	0.48642	1.525	0.58432	D	0.999993	B;B	0.30563	0.242;0.285	B;B	0.25614	0.037;0.062	T	0.47142	-0.9140	10	0.66056	D	0.02	.	19.7626	0.96329	0.0:1.0:0.0:0.0	.	104;104	O14522-1;O14522	.;PTPRT_HUMAN	N	104	ENSP00000362286:D104N;ENSP00000362283:D104N;ENSP00000362289:D104N;ENSP00000348408:D104N;ENSP00000362294:D104N;ENSP00000362280:D104N;ENSP00000362297:D104N	ENSP00000348408:D104N	D	-	1	0	PTPRT	40853425	0.996000	0.38824	0.996000	0.52242	0.959000	0.62525	3.318000	0.51975	2.676000	0.91093	0.561000	0.74099	GAC		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			56	224	0	0	0	1	0	56	224					T	41420011	C	T	41420011	3	4	79	1	0	0	0	0	1	0	0	0	12862	884	31	1	4192	1	PTPRT	20	41420011	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	439204	41420011	21605509	20230	30547											
SFRS6	6431	broad.mit.edu	37	chr20	42088725	42088725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcggatgcccacaaggaacGaacaaatgagggtgtaattg	13	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42088725G>A	ENST00000244020.3	+	4	540	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	145	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.		R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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)	p.R145Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CACAAGGAACGAACAAATGAG	0.413																																						ENST00000244020.3																			1	Substitution - Missense(1)	p.R145Q(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(433-435)cGa>cAa		serine/arginine-rich splicing factor 6							139	137	138					20																	42088725		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088725G>A	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.434G>A	20.37:g.42088725G>A	ENSP00000244020:p.Arg145Gln						p.R145Q	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	540	+			145		R -> Q (in a colorectal cancer sample; somatic mutation).	RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.434G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774272	0.49786	.	.	ENSG00000124193	ENST00000244020	T	0.16324	2.35	6.08	5.14	0.70334	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044791	0.85682	D	0.000000	T	0.42743	0.1216	M	0.77486	2.375	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.70935	0.971;0.781	T	0.43909	-0.9362	10	0.72032	D	0.01	.	14.3225	0.66496	0.0718:0.0:0.9282:0.0	.	145;145	Q13247;A8K588	SRSF6_HUMAN;.	Q	145	ENSP00000244020:R145Q	ENSP00000244020:R145Q	R	+	2	0	SRSF6	41522139	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.859000	0.86982	1.595000	0.50050	-0.229000	0.12294	CGA		0.413	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		58	276	0	0	0	1	0	58	276					A	42088725	G	A	42088725	3	1	79	1	0	0	0	0	1	0	0	0	14231	1058	37	1	448	1	SFRS6	20	42088725	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	668714	42088725	20936795	20231	30548											
SFRS6	6431	broad.mit.edu	37	chr20	42088878	42088878	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atcttactctggaagcagatCcaggtaacttgttgaaggac	10	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42088878C>A	ENST00000244020.3	+	4	693	c.587C>A	c.(586-588)tCc>tAc	p.S196Y		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	196	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GGAAGCAGATCCAGGTAACTT	0.403																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(586-588)tCc>tAc		serine/arginine-rich splicing factor 6							49	48	48					20																	42088878		2200	4300	6500	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088878C>A	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.587C>A	20.37:g.42088878C>A	ENSP00000244020:p.Ser196Tyr						p.S196Y	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			4	693	+			196			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.587C>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970812	0.53614	.	.	ENSG00000124193	ENST00000244020	T	0.31769	1.48	5.98	5.98	0.97165	.	0.111229	0.64402	D	0.000005	T	0.60919	0.2306	M	0.80616	2.505	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.75484	0.986;0.962	T	0.62353	-0.6872	10	0.72032	D	0.01	.	19.2235	0.93808	0.0:1.0:0.0:0.0	.	196;196	Q13247;A8K588	SRSF6_HUMAN;.	Y	196	ENSP00000244020:S196Y	ENSP00000244020:S196Y	S	+	2	0	SRSF6	41522292	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.731000	0.84895	2.838000	0.97847	0.591000	0.81541	TCC		0.403	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		8	234	1	0	0.00448238	1	0.00451339	8	234					A	42088878	C	A	42088878	3	1	79	1	0	0	0	0	1	0	0	0	14231	855	30	3	601	3	SFRS6	20	42088878	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	42088878	20936642	20232	30549											
SFRS6	6431	broad.mit.edu	37	chr20	42089353	42089353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtccagttccaggtcgCggagcaaaggtcgatcacgt	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089353C>T	ENST00000244020.3	+	6	791	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	229	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTCCAGGTCGCGGAGCAAAGG	0.443																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(685-687)Cgg>Tgg		serine/arginine-rich splicing factor 6							62	55	57					20																	42089353		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089353C>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.685C>T	20.37:g.42089353C>T	ENSP00000244020:p.Arg229Trp						p.R229W	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			6	791	+			229			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.685C>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152134	0.38021	.	.	ENSG00000124193	ENST00000244020	T	0.17213	2.29	5.97	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.42494	0.1205	M	0.78456	2.415	0.51482	D	0.999929	D	0.89917	1.0	D	0.77557	0.99	T	0.41680	-0.9495	10	0.72032	D	0.01	.	13.0512	0.58957	0.2927:0.7073:0.0:0.0	.	229	Q13247	SRSF6_HUMAN	W	229	ENSP00000244020:R229W	ENSP00000244020:R229W	R	+	1	2	SRSF6	41522767	0.892000	0.30473	0.718000	0.30602	0.803000	0.45373	1.135000	0.31454	1.489000	0.48450	0.585000	0.79938	CGG		0.443	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		49	178	0	0	0	1	0	49	178					T	42089353	C	T	42089353	3	4	79	1	0	0	0	0	1	0	0	0	14231	759	27	1	707	1	SFRS6	20	42089353	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	475	42089353	20936167	20233	30550											
SFRS6	6431	broad.mit.edu	37	chr20	42089579	42089579	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtcccgttccaattcgcCgctacctgttccaccctcaa	5	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089579C>T	ENST00000244020.3	+	6	1017	c.911C>T	c.(910-912)cCg>cTg	p.P304L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	304	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCCAATTCGCCGCTACCTGTT	0.493																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(910-912)cCg>cTg		serine/arginine-rich splicing factor 6							83	81	82					20																	42089579		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42089579C>T	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.911C>T	20.37:g.42089579C>T	ENSP00000244020:p.Pro304Leu						p.P304L	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			6	1017	+			304			Arg/Ser-rich (RS domain).		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.911C>T	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038628	0.35989	.	.	ENSG00000124193	ENST00000244020	T	0.10960	2.82	5.93	5.93	0.95920	.	0.150239	0.64402	D	0.000014	T	0.14570	0.0352	M	0.66939	2.045	0.50813	D	0.999896	P	0.47545	0.897	B	0.35971	0.215	T	0.02668	-1.1126	10	0.39692	T	0.17	.	19.1112	0.93317	0.0:1.0:0.0:0.0	.	304	Q13247	SRSF6_HUMAN	L	304	ENSP00000244020:P304L	ENSP00000244020:P304L	P	+	2	0	SRSF6	41522993	.	.	0.942000	0.38095	0.881000	0.50899	.	.	2.803000	0.96430	0.585000	0.79938	CCG		0.493	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		87	358	0	0	0	1	0	87	358					T	42089579	C	T	42089579	3	4	79	1	0	0	0	0	1	0	0	0	14231	652	23	1	933	1	SFRS6	20	42089579	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	226	42089579	20935941	20234	30551											
L3MBTL	26013	broad.mit.edu	37	chr20	42163582	42163582	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccctgcagcctcctctcGgtgtgtacccctagggcact	9	17	1	0	rs544291942		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42163582G>A	ENST00000427442.2	+	16	1918	c.1759G>A	c.(1759-1761)Gga>Aga	p.G587R	L3MBTL1_ENST00000418998.1_Splice_Site_p.G587R|L3MBTL1_ENST00000373135.3_Splice_Site_p.G519R|L3MBTL1_ENST00000444063.1_Splice_Site_p.G519R|L3MBTL1_ENST00000373134.1_Splice_Site_p.G519R			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	519					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						GCCTCCTCTCGGTGTGTACCC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19411	0.001		0.0	False		,,,				2504	0.0					ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.e13+1		l(3)mbt-like 1 (Drosophila)							71	59	63					20																	42163582		2203	4300	6503	SO:0001630	splice_region_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42163582G>A	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.1759+1G>A	20.37:g.42163582G>A						L3MBTL1_ENST00000418998.1_Splice_Site_p.G587_splice|L3MBTL1_ENST00000373135.3_Splice_Site_p.G519_splice|L3MBTL1_ENST00000427442.2_Splice_Site_p.G587_splice|L3MBTL1_ENST00000373134.1_Splice_Site_p.G519_splice	p.G519_splice			Q9Y468	LMBL1_HUMAN			13	1687	+			519					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Splice_Site	SNP	ENST00000427442.2	37	c.1555_splice	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850488	0.32699	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.85	3.75	0.43078	.	0.199679	0.41097	N	0.000959	T	0.23289	0.0563	L	0.35487	1.065	0.80722	D	1	B;B;B;B	0.11235	0.001;0.004;0.003;0.002	B;B;B;B	0.12156	0.001;0.007;0.001;0.001	T	0.04635	-1.0937	10	0.08381	T	0.77	.	10.0898	0.42441	0.2371:0.6539:0.1089:0.0	.	587;171;519;519	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	R	587;587;519;519;519;305;171	ENSP00000402107:G587R;ENSP00000398516:G587R;ENSP00000362227:G519R;ENSP00000403316:G519R;ENSP00000362226:G519R;ENSP00000410139:G305R	ENSP00000362225:G171R	G	+	1	0	L3MBTL1	41596996	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.903000	0.28475	1.488000	0.48433	-0.128000	0.14901	GGA		0.552	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	Missense_Mutation	22	100	0	0	0	1	0	22	100					A	42163582	G	A	42163582	5	1	79	1	0	0	0	0	0	0	1	0	8622	1130	39	1	1605	1	L3MBTL	20	42163582	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74003	42163582	20861938	20235	30552											
SGK2	10110	broad.mit.edu	37	chr20	42208675	42208675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacctgtaccacaagaggCtaactccacccttcaaccca	5	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42208675C>T	ENST00000341458.4	+	11	1312	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000373100.1_Silent_p.L305L|SGK2_ENST00000373077.1_Silent_p.L304L|SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000426287.1_Silent_p.L331L	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	365	AGC-kinase C-terminal.				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)			CCACAAGAGGCTAACTCCACC	0.478																																						ENST00000373100.1																			0				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						c.(913-915)Cta>Tta		serum/glucocorticoid regulated kinase 2							126	112	117					20																	42208675		2203	4300	6503	SO:0001819	synonymous_variant	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42208675C>T	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.1093C>T	20.37:g.42208675C>T						SGK2_ENST00000373092.3_Silent_p.L305L|SGK2_ENST00000341458.4_Silent_p.L365L|SGK2_ENST00000426287.1_Silent_p.L331L|SGK2_ENST00000423407.3_Silent_p.L305L|SGK2_ENST00000373077.1_Silent_p.L304L	p.L305L			Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		13	1373	+		Myeloproliferative disorder(115;0.00452)	365			Protein kinase.		Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	ENST00000341458.4	37	c.913C>T	CCDS13320.1																																																																																				0.478	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			48	251	0	0	0	1	0	48	251					T	42208675	C	T	42208675	2	4	79	1	0	0	0	0	0	0	0	1	14259	796	28	2		2	SGK2	20	42208675	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45093	42208675	20816845	20236	30553											
IFT52	51098	broad.mit.edu	37	chr20	42233661	42233661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaattagccgagctgcaGgaaaggctgtgcctgggatc	16	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42233661G>A	ENST00000373030.3	+	6	563	c.433G>A	c.(433-435)Gga>Aga	p.G145R	IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	145					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGCTGCAGGAAAGGCTGT	0.388																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(433-435)Gga>Aga		intraflagellar transport 52 homolog (Chlamydomonas)							98	99	99					20																	42233661		2203	4300	6503	SO:0001583	missense	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42233661G>A	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.433G>A	20.37:g.42233661G>A	ENSP00000362121:p.Gly145Arg					IFT52_ENST00000373039.4_Missense_Mutation_p.G145R	p.G145R	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		6	563	+		Myeloproliferative disorder(115;0.00452)	145					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	ENST00000373030.3	37	c.433G>A	CCDS33470.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012953	0.54468	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.99	4.99	0.66335	.	0.049267	0.85682	D	0.000000	T	0.62368	0.2422	M	0.66506	2.035	0.80722	D	1	P	0.34934	0.476	B	0.33890	0.172	T	0.65957	-0.6042	9	0.48119	T	0.1	-7.7292	17.4356	0.87550	0.0:0.0:1.0:0.0	.	145	Q9Y366	IFT52_HUMAN	R	145	.	ENSP00000362121:G145R	G	+	1	0	IFT52	41667075	1.000000	0.71417	0.994000	0.49952	0.569000	0.35902	7.176000	0.77643	2.480000	0.83734	0.561000	0.74099	GGA		0.388	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		34	175	0	0	0	1	0	34	175					A	42233661	G	A	42233661	3	1	79	1	0	0	0	0	1	0	0	0	7591	1001	35	2	451	2	IFT52	20	42233661	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24986	42233661	20791859	20237	30554											
MYBL2	4605	broad.mit.edu	37	chr20	42328479	42328479	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaacttgcagcagccaCcacatcgaaggaacaggagc	13	11	0	0	rs142211101	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42328479C>T	ENST00000217026.4	+	7	873	c.746C>T	c.(745-747)aCc>aTc	p.T249I	MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	249					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGCAGCCACCACATCGAAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		20315	0.002		0.0	False		,,,				2504	0.0					ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(745-747)aCc>aTc		v-myb avian myeloblastosis viral oncogene homolog-like 2							81	68	72					20																	42328479		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42328479C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.746C>T	20.37:g.42328479C>T	ENSP00000217026:p.Thr249Ile					MYBL2_ENST00000396863.4_Missense_Mutation_p.T225I	p.T249I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	873	+		Myeloproliferative disorder(115;0.00452)	249					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.746C>T	CCDS13322.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	11.82	1.751527	0.31046	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15017	2.46;2.46	4.77	4.77	0.60923	.	1.690320	0.02888	N	0.133759	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	B;B	0.34103	0.135;0.437	B;B	0.27500	0.071;0.08	T	0.24548	-1.0157	10	0.36615	T	0.2	-3.3195	14.0289	0.64604	0.0:1.0:0.0:0.0	.	225;249	F8W6N6;P10244	.;MYBB_HUMAN	I	225;249	ENSP00000380072:T225I;ENSP00000217026:T249I	ENSP00000217026:T249I	T	+	2	0	MYBL2	41761893	0.002000	0.14202	0.006000	0.13384	0.046000	0.14306	0.854000	0.27791	2.575000	0.86900	0.650000	0.86243	ACC		0.552	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		8	177	0	0	0	1	0	8	177					T	42328479	C	T	42328479	3	4	79	1	0	0	0	0	1	0	0	0	10051	507	18	2	772	2	MYBL2	20	42328479	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94818	42328479	20697041	20238	30555											
MYBL2	4605	broad.mit.edu	37	chr20	42340139	42340139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacagccacagaccccGcacctggaggaggacttgaa	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42340139G>A	ENST00000217026.4	+	11	1744	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	MYBL2_ENST00000396863.4_Silent_p.P515P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	539					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAGACCCCGCACCTGGAGG	0.627																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1615-1617)ccG>ccA		v-myb avian myeloblastosis viral oncogene homolog-like 2							54	45	48					20																	42340139		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42340139G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1617G>A	20.37:g.42340139G>A						MYBL2_ENST00000396863.4_Silent_p.P515P	p.P539P	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		11	1744	+		Myeloproliferative disorder(115;0.00452)	539					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.1617G>A	CCDS13322.1																																																																																				0.627	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		15	88	0	0	0	1	0	15	88					A	42340139	G	A	42340139	2	1	79	1	0	0	0	0	0	0	0	1	10051	1074	38	1		1	MYBL2	20	42340139	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11660	42340139	20685381	20239	30556											
TOX2	84969	broad.mit.edu	37	chr20	42683124	42683124	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcggtgacgtgtccaaaatCgtggcctccatgtgggacag	13	10	0	1	rs200547615		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683124C>T	ENST00000358131.5	+	5	1072	c.864C>T	c.(862-864)atC>atT	p.I288I	TOX2_ENST00000341197.4_Silent_p.I279I|TOX2_ENST00000423191.2_Silent_p.I237I|TOX2_ENST00000372999.1_Silent_p.I237I|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	288					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGTCCAAAATCGTGGCCTCCA	0.592																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(862-864)atC>atT		TOX high mobility group box family member 2							65	58	60					20																	42683124		2203	4300	6503	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42683124C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.864C>T	20.37:g.42683124C>T						TOX2_ENST00000435864.2_Silent_p.I157I|TOX2_ENST00000372999.1_Silent_p.I237I|TOX2_ENST00000423191.1_Silent_p.I237I|TOX2_ENST00000341197.3_Silent_p.I279I	p.I288I	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	1072	+		Myeloproliferative disorder(115;0.00452)	288					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.864C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965003	0.34659	.	.	ENSG00000124191	ENST00000372992;ENST00000413823	.	.	.	5.44	-6.51	0.01878	.	.	.	.	.	T	0.65460	0.2693	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72253	-0.4347	5	0.87932	D	0	.	10.9044	0.47071	0.0887:0.3023:0.0:0.6089	.	.	.	.	L	45	.	ENSP00000362083:S45L	S	+	2	0	TOX2	42116538	0.002000	0.14202	0.813000	0.32504	0.767000	0.43475	-1.352000	0.02619	-1.207000	0.02637	-1.608000	0.00805	TCG		0.592	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			45	168	0	0	0	1	0	45	168					T	42683124	C	T	42683124	2	4	79	1	0	0	0	0	0	0	0	1	16431	874	31	1		1	TOX2	20	42683124	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	342985	42683124	20342396	20240	30557											
TOX2	84969	broad.mit.edu	37	chr20	42683164	42683164	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggagaggaacagaagCaggtgagcctccctctcttt	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683164C>T	ENST00000358131.5	+	5	1112	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	TOX2_ENST00000341197.4_Nonsense_Mutation_p.Q293*|TOX2_ENST00000423191.2_Nonsense_Mutation_p.Q251*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACAGAAGCAGGTGAGCCT	0.582																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(904-906)Cag>Tag		TOX high mobility group box family member 2							46	41	43					20																	42683164		2203	4300	6503	SO:0001587	stop_gained	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42683164C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.904C>T	20.37:g.42683164C>T	ENSP00000350849:p.Gln302*					TOX2_ENST00000435864.2_Nonsense_Mutation_p.Q171*|TOX2_ENST00000372999.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000423191.1_Nonsense_Mutation_p.Q251*|TOX2_ENST00000341197.3_Nonsense_Mutation_p.Q293*	p.Q302*	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	1112	+		Myeloproliferative disorder(115;0.00452)	302					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Nonsense_Mutation	SNP	ENST00000358131.5	37	c.904C>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	C	38	7.147499	0.98096	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2447	0.89981	0.0:1.0:0.0:0.0	.	.	.	.	X	293;251;251;302;171	.	ENSP00000344724:Q293X	Q	+	1	0	TOX2	42116578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.556000	0.86216	0.650000	0.86243	CAG		0.582	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			27	106	0	0	0	1	0	27	106					T	42683164	C	T	42683164	4	4	79	1	0	0	0	0	0	1	0	0	16431	711	25	2	1025	2	TOX2	20	42683164	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40	42683164	20342356	20241	30558											
TOX2	84969	broad.mit.edu	37	chr20	42694624	42694624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctgtcactgccccctcaCgcccagggcgccctcctcag	9	21	3	0	rs200781086	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42694624C>T	ENST00000358131.5	+	6	1387	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	TOX2_ENST00000341197.4_Silent_p.H411H|TOX2_ENST00000423191.2_Silent_p.H369H|TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	393	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCCCTCACGCCCAGGGCG	0.701													C|||	2	0.000399361	0.0	0.0	5008	,	,		10759	0.0		0.0	False		,,,				2504	0.002					ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1177-1179)caC>caT		TOX high mobility group box family member 2		C	,,,	1,4403	2.1+/-5.4	0,1,2201	27	30	29		1107,1233,1179,1107	-1.5	1	20		29	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	,,,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,,,	369/465,411/507,393/489,369/465	42694624	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694624C>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1179C>T	20.37:g.42694624C>T						TOX2_ENST00000435864.2_Silent_p.H289H|TOX2_ENST00000372999.1_Silent_p.H369H|TOX2_ENST00000423191.1_Silent_p.H369H|TOX2_ENST00000341197.3_Silent_p.H411H	p.H393H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1387	+		Myeloproliferative disorder(115;0.00452)	393			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1179C>T	CCDS42875.1																																																																																				0.701	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			53	232	0	0	0	1	0	53	232					T	42694624	C	T	42694624	2	4	79	1	0	0	0	0	0	0	0	1	16431	535	19	1		1	TOX2	20	42694624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11460	42694624	20330896	20242	30559											
TOX2	84969	broad.mit.edu	37	chr20	42695431	42695431	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcacctggcccatccaAccccaccagcagcggggact	9	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42695431A>G	ENST00000358131.5	+	7	1572	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	TOX2_ENST00000341197.4_Missense_Mutation_p.N473S|TOX2_ENST00000423191.2_Missense_Mutation_p.N431S|TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	455	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCATCCAACCCCACCAGC	0.637																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1363-1365)aAc>aGc		TOX high mobility group box family member 2							127	119	122					20																	42695431		2203	4300	6503	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42695431A>G	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1364A>G	20.37:g.42695431A>G	ENSP00000350849:p.Asn455Ser					TOX2_ENST00000435864.2_Missense_Mutation_p.N351S|TOX2_ENST00000372999.1_Missense_Mutation_p.N431S|TOX2_ENST00000423191.1_Missense_Mutation_p.N431S|TOX2_ENST00000341197.3_Missense_Mutation_p.N473S	p.N455S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		7	1572	+		Myeloproliferative disorder(115;0.00452)	455			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1364A>G	CCDS42875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.373|8.373	0.835797|0.835797	0.16820|0.16820	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864|ENST00000372992;ENST00000413823	T;T;T;T;T|.	0.17370|.	2.6;2.6;2.6;2.28;2.32|.	5.78|5.78	2.26|2.26	0.28386|0.28386	.|.	0.655368|.	0.14705|.	N|.	0.303308|.	T|T	0.54046|0.54046	0.1834|0.1834	L|L	0.58810|0.58810	1.83|1.83	0.36582|0.36582	D|D	0.873572|0.873572	B;P;P;P|.	0.47106|.	0.011;0.89;0.824;0.622|.	B;B;B;B|.	0.43413|.	0.005;0.419;0.3;0.152|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|6	0.42905|0.87932	T|D	0.14|0	.|.	5.3812|5.3812	0.16192|0.16192	0.7002:0.148:0.1518:0.0|0.7002:0.148:0.1518:0.0	.|.	351;473;455;431|.	B4DQV8;G3XAC7;Q96NM4;E1P5X0|.	.;.;TOX2_HUMAN;.|.	S|A	473;431;431;455;351|80	ENSP00000344724:N473S;ENSP00000390278:N431S;ENSP00000362090:N431S;ENSP00000350849:N455S;ENSP00000396777:N351S|.	ENSP00000344724:N473S|ENSP00000362083:T80A	N|T	+|+	2|1	0|0	TOX2|TOX2	42128845|42128845	1.000000|1.000000	0.71417|0.71417	0.493000|0.493000	0.27502|0.27502	0.197000|0.197000	0.23852|0.23852	2.105000|2.105000	0.41825|0.41825	0.102000|0.102000	0.17638|0.17638	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.637	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			132	619	0	0	0	1	0	132	619					G	42695431	A	G	42695431	3	3	79	1	0	0	0	0	1	0	0	0	16431	43	2	4	1578	4	TOX2	20	42695431	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	807	42695431	20330089	20243	30560											
JPH2	57158	broad.mit.edu	37	chr20	42744440	42744440	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctttggggatgatgggCttgggctccagcttggcggg	19	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42744440C>T	ENST00000372980.3	-	4	2747	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	625	Pro-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGATGATGGGCTTGGGCTCCA	0.741																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1873-1875)aaG>aaA		junctophilin 2							19	22	21					20																	42744440		2202	4298	6500	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42744440C>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1875G>A	20.37:g.42744440C>T							p.K625K	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	2747	-		Myeloproliferative disorder(115;0.0122)	625			Pro-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.1875G>A	CCDS13325.1																																																																																				0.741	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			36	187	0	0	0	1	0	36	187					T	42744440	C	T	42744440	2	4	79	1	0	0	0	0	0	0	0	1	7991	796	28	2		2	JPH2	20	42744440	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49009	42744440	20281080	20244	30561											
JPH2	57158	broad.mit.edu	37	chr20	42788611	42788611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgcggcctcgtcggcGccctcggcggcctctcccag	15	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42788611G>A	ENST00000372980.3	-	2	1688	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	272					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)			CCTCGTCGGCGCCCTCGGCGG	0.687																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(814-816)ggC>ggT		junctophilin 2							22	22	22					20																	42788611		2199	4297	6496	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788611G>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.816C>T	20.37:g.42788611G>A							p.G272G	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1688	-		Myeloproliferative disorder(115;0.0122)	272					E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.816C>T	CCDS13325.1																																																																																				0.687	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			16	75	0	0	0	1	0	16	75					A	42788611	G	A	42788611	2	1	79	1	0	0	0	0	0	0	0	1	7991	1074	38	1		1	JPH2	20	42788611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44171	42788611	20236909	20245	30562											
GDAP1L1	78997	broad.mit.edu	37	chr20	42907813	42907813	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caccaccctgctgtcggccgTcatccccaatgctttccggc	8	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42907813T>A	ENST00000342560.5	+	6	1065	c.977T>A	c.(976-978)gTc>gAc	p.V326D	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	326	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTCGGCCGTCATCCCCAAT	0.612																																						ENST00000342560.5																			0				endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(976-978)gTc>gAc		ganglioside induced differentiation associated protein 1-like 1							134	118	123					20																	42907813		2203	4300	6503	SO:0001583	missense	78997							g.chr20:42907813T>A		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.977T>A	20.37:g.42907813T>A	ENSP00000341782:p.Val326Asp					GDAP1L1_ENST00000537864.1_Missense_Mutation_p.V134D	p.V326D	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1065	+		Myeloproliferative disorder(115;0.0122)	326			GST C-terminal.		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Missense_Mutation	SNP	ENST00000342560.5	37	c.977T>A	CCDS13328.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298469	0.81025	.	.	ENSG00000124194	ENST00000342560;ENST00000372947;ENST00000372946;ENST00000545149;ENST00000438466;ENST00000537864	D;D;D	0.98419	-4.92;-4.92;-4.92	5.14	5.14	0.70334	Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.85130	0.991;0.997;0.996	D	0.99834	1.1056	10	0.87932	D	0	.	15.2475	0.73517	0.0:0.0:0.0:1.0	.	268;345;326	B7Z1I3;B7Z621;Q96MZ0	.;.;GD1L1_HUMAN	D	326;321;268;292;268;134	ENSP00000341782:V326D;ENSP00000392881:V268D;ENSP00000440498:V134D	ENSP00000341782:V326D	V	+	2	0	GDAP1L1	42341227	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.565000	0.82337	2.064000	0.61679	0.482000	0.46254	GTC		0.612	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		160	543	0	0	0	1	0	160	543					A	42907813	T	A	42907813	3	1	79	1	0	0	0	0	1	0	0	0	6336	1667	58	5	999	5	GDAP1L1	20	42907813	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	119202	42907813	20117707	20246	30563											
FITM2	128486	broad.mit.edu	37	chr20	42935305	42935305	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttcaaattcaaactacagCtctggggaggaagtcctggg	12	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935305C>A	ENST00000396825.3	-	2	769	c.749G>T	c.(748-750)aGc>aTc	p.S250I		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	250					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						CAAACTACAGCTCTGGGGAGG	0.423																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(748-750)aGc>aTc		fat storage-inducing transmembrane protein 2							58	64	62					20																	42935305		2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935305C>A	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.749G>T	20.37:g.42935305C>A	ENSP00000380037:p.Ser250Ile						p.S250I	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	769	-			250					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.749G>T	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748150	0.15710	.	.	ENSG00000197296	ENST00000396825	.	.	.	5.76	3.81	0.43845	.	0.338611	0.37530	N	0.002041	T	0.38878	0.1057	L	0.34521	1.04	0.34742	D	0.730827	B	0.23316	0.083	B	0.15870	0.014	T	0.46119	-0.9214	9	0.59425	D	0.04	.	8.5745	0.33590	0.0:0.7255:0.1277:0.1468	.	250	Q8N6M3	FITM2_HUMAN	I	250	.	ENSP00000380037:S250I	S	-	2	0	FITM2	42368719	0.462000	0.25791	0.864000	0.33941	0.123000	0.20343	0.806000	0.27126	0.760000	0.33108	-0.150000	0.13652	AGC		0.423	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		64	361	1	0	1.40369e-38	1	1.69297e-38	64	361					A	42935305	C	A	42935305	3	1	79	1	0	0	0	0	1	0	0	0	5924	797	28	3	43	3	FITM2	20	42935305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27492	42935305	20090215	20247	30564											
FITM2	128486	broad.mit.edu	37	chr20	42935595	42935595	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaggaaggagtgaccTgagatgtcaaagccatgcca	13	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935595T>C	ENST00000396825.3	-	2	479	c.459A>G	c.(457-459)tcA>tcG	p.S153S		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	153					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						AGGAGTGACCTGAGATGTCAA	0.582																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(457-459)tcA>tcG		fat storage-inducing transmembrane protein 2							120	87	98					20																	42935595		2203	4300	6503	SO:0001819	synonymous_variant	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935595T>C	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.459A>G	20.37:g.42935595T>C							p.S153S	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	479	-			153					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Silent	SNP	ENST00000396825.3	37	c.459A>G	CCDS33473.1																																																																																				0.582	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		9	279	0	0	0	1	0	9	279					C	42935595	T	C	42935595	2	2	79	1	0	0	0	0	0	0	0	1	5924	1567	55	4		4	FITM2	20	42935595	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	290	42935595	20089925	20248	30565											
TTPAL	79183	broad.mit.edu	37	chr20	43117903	43117903	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcatttcattcccttttaGttcttcctccatgggtctga	5	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43117903G>A	ENST00000372904.3	+	6	893		c.e6-1		TTPAL_ENST00000372906.2_Splice_Site|TTPAL_ENST00000262605.4_Splice_Site	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like							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						TTCCCTTTTAGTTCTTCCTCC	0.463																																						ENST00000372904.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						c.e6-1		tocopherol (alpha) transfer protein-like							48	45	46					20																	43117903		2203	4300	6503	SO:0001630	splice_region_variant	79183					intracellular	transporter activity	g.chr20:43117903G>A	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.751-1G>A	20.37:g.43117903G>A						TTPAL_ENST00000262605.4_Splice_Site|TTPAL_ENST00000372906.2_Splice_Site		NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN			6	893	+								E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Splice_Site	SNP	ENST00000372904.3	37		CCDS13332.2	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713898	0.68730	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000372906;ENST00000456317	.	.	.	6.04	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0869	0.72162	0.0673:0.0:0.9327:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTPAL	42551317	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.599000	0.98280	1.571000	0.49722	0.563000	0.77884	.		0.463	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331	Intron	42	214	0	0	0	1	0	42	214					A	43117903	G	A	43117903	5	1	79	1	0	0	0	0	0	0	1	0	16791	1043	36	2	764	2	TTPAL	20	43117903	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	182308	43117903	19907617	20249	30566											
SERINC3	10955	broad.mit.edu	37	chr20	43133515	43133515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaggactgcaagaggccGgagcgaggctggtgttccta	18	8	0	1	rs201065201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43133515G>A	ENST00000342374.4	-	7	958	c.801C>T	c.(799-801)tcC>tcT	p.S267S	SERINC3_ENST00000255175.1_Silent_p.S267S|SERINC3_ENST00000541235.1_Silent_p.S212S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	267					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)			GCAAGAGGCCGGAGCGAGGCT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20839	0.0		0.0	False		,,,				2504	0.0					ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(799-801)tcC>tcT		serine incorporator 3							130	115	120					20																	43133515		2203	4300	6503	SO:0001819	synonymous_variant	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43133515G>A	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.801C>T	20.37:g.43133515G>A						SERINC3_ENST00000255175.1_Silent_p.S267S|SERINC3_ENST00000541235.1_Silent_p.S212S	p.S267S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		7	958	-		Myeloproliferative disorder(115;0.0122)	267					B4DUE9|O43717|Q9BR33	Silent	SNP	ENST00000342374.4	37	c.801C>T	CCDS13333.1																																																																																				0.493	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		33	154	0	0	0	1	0	33	154					A	43133515	G	A	43133515	2	1	79	1	0	0	0	0	0	0	0	1	14131	1103	39	1		1	SERINC3	20	43133515	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15612	43133515	19892005	20250	30567											
SERINC3	10955	broad.mit.edu	37	chr20	43135535	43135535	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttaatactgatgaagAacttgttttctgtgcagcca	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43135535A>G	ENST00000342374.4	-	6	873	c.716T>C	c.(715-717)tTc>tCc	p.F239S	SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S|SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	239					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)			ACTGATGAAGAACTTGTTTTC	0.393																																						ENST00000342374.4																			0				endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18						c.(715-717)tTc>tCc		serine incorporator 3							118	109	112					20																	43135535		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43135535A>G	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.716T>C	20.37:g.43135535A>G	ENSP00000340243:p.Phe239Ser					SERINC3_ENST00000255175.1_Missense_Mutation_p.F239S|SERINC3_ENST00000541235.1_Missense_Mutation_p.F184S	p.F239S	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		6	873	-		Myeloproliferative disorder(115;0.0122)	239					B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.716T>C	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145433	0.77888	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.15017	2.46;2.46;2.46	4.75	3.62	0.41486	.	0.187687	0.64402	D	0.000018	T	0.27419	0.0673	M	0.80982	2.52	0.58432	D	0.999993	P;B	0.34462	0.454;0.292	B;B	0.39935	0.314;0.232	T	0.05699	-1.0869	10	0.54805	T	0.06	.	11.7919	0.52073	0.8529:0.1471:0.0:0.0	.	239;239	Q53GK8;Q13530	.;SERC3_HUMAN	S	239;239;206;184	ENSP00000255175:F239S;ENSP00000340243:F239S;ENSP00000440966:F184S	ENSP00000255175:F239S	F	-	2	0	SERINC3	42568949	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.738000	0.47401	0.918000	0.36919	0.383000	0.25322	TTC		0.393	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3	NM_006811		7	369	0	0	0	1	0	7	369					G	43135535	A	G	43135535	3	3	79	1	0	0	0	0	1	0	0	0	14131	246	9	4	725	4	SERINC3	20	43135535	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2020	43135535	19889985	20251	30568											
WISP2	8839	broad.mit.edu	37	chr20	43353497	43353497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcttcacctgcgtgccGctgtgcagcgaggatgtgcg	17	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43353497G>A	ENST00000372868.2	+	4	739	c.396G>A	c.(394-396)ccG>ccA	p.P132P	WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	132	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCTGCGTGCCGCTGTGCAGCG	0.697																																						ENST00000372868.2																			0				skin(1)	1						c.(394-396)ccG>ccA		WNT1 inducible signaling pathway protein 2							24	19	21					20																	43353497		2198	4295	6493	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43353497G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.396G>A	20.37:g.43353497G>A						WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Silent_p.P132P|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA	p.P132P			O76076	WISP2_HUMAN			4	739	+		Myeloproliferative disorder(115;0.0122)	132			VWFC.		B2R9N4|E1P612|Q6PEG3	Silent	SNP	ENST00000372868.2	37	c.396G>A	CCDS13336.1																																																																																				0.697	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		19	61	0	0	0	1	0	19	61					A	43353497	G	A	43353497	2	1	79	1	0	0	0	0	0	0	0	1	17427	1074	38	1		1	WISP2	20	43353497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217962	43353497	19672023	20252	30569											
RIMS4	140730	broad.mit.edu	37	chr20	43386371	43386371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctggataatgtccacctCcaactgaccgttccgctcct	7	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43386371C>T	ENST00000372851.3	-	4	457	c.391G>A	c.(391-393)Gag>Aag	p.E131K	RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	131	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)				ATGTCCACCTCCAACTGACCG	0.592																																						ENST00000372851.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(391-393)Gag>Aag		regulating synaptic membrane exocytosis 4							131	106	114					20																	43386371		2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386371C>T		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.391G>A	20.37:g.43386371C>T	ENSP00000361942:p.Glu131Lys					RIMS4_ENST00000541604.2_Missense_Mutation_p.E132K	p.E131K	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			4	457	-		Myeloproliferative disorder(115;0.0122)	131			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.391G>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	36	5.779694	0.96929	.	.	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.68765	-0.35;-0.35	5.76	5.76	0.90799	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	0.81307	0.4795	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.99;0.999	D;D	0.69307	0.919;0.963	T	0.82100	-0.0624	10	0.87932	D	0	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	132;131	E1P613;Q9H426	.;RIMS4_HUMAN	K	131;132	ENSP00000361942:E131K;ENSP00000439287:E132K	ENSP00000361942:E131K	E	-	1	0	RIMS4	42819785	1.000000	0.71417	0.968000	0.41197	0.912000	0.54170	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	GAG		0.592	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		91	479	0	0	0	1	0	91	479					T	43386371	C	T	43386371	3	4	79	1	0	0	0	0	1	0	0	0	13420	864	30	2	430	2	RIMS4	20	43386371	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32874	43386371	19639149	20253	30570											
YWHAB	7529	broad.mit.edu	37	chr20	43530459	43530459	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaggcagaactgcaggacatCtgcaatgatgttctggtaag	13	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43530459C>T	ENST00000372839.3	+	3	559	c.285C>T	c.(283-285)atC>atT	p.I95I	YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	95					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGCAGGACATCTGCAATGATG	0.413																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(283-285)atC>atT		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							102	98	99					20																	43530459		2203	4300	6503	SO:0001819	synonymous_variant	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43530459C>T	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.285C>T	20.37:g.43530459C>T						YWHAB_ENST00000353703.4_Silent_p.I95I|YWHAB_ENST00000479421.1_3'UTR	p.I95I	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			3	559	+		Myeloproliferative disorder(115;0.0122)	95					A8K9K2|E1P616	Silent	SNP	ENST00000372839.3	37	c.285C>T	CCDS13339.1																																																																																				0.413	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		82	383	0	0	0	1	0	82	383					T	43530459	C	T	43530459	2	4	79	1	0	0	0	0	0	0	0	1	17555	903	32	2		2	YWHAB	20	43530459	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144088	43530459	19495061	20254	30571											
PABPC1L	80336	broad.mit.edu	37	chr20	43561803	43561803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacccaggtgccacgcaCggtgcctcatacccagagag	10	17	1	1	rs201624445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43561803C>T	ENST00000217073.2	+	10	1421	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M	PABPC1L_ENST00000372824.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	474					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GTGCCACGCACGGTGCCTCAT	0.647																																						ENST00000372824.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(82-84)aCg>aTg		poly(A) binding protein, cytoplasmic 1-like		C	MET/THR	0,3136		0,0,1568	22	24	23		1421	-5.1	0	20		23	2,7162		0,2,3580	yes	missense	PABPC1L	NM_001124756.1	81	0,2,5148	TT,TC,CC		0.0279,0.0,0.0194	benign	474/615	43561803	2,10298	1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43561803C>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"RNA binding motif (RRM) containing"	15797	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 119"	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1421C>T	20.37:g.43561803C>T	ENSP00000217073:p.Thr474Met					PABPC1L_ENST00000372819.1_Missense_Mutation_p.T28M|PABPC1L_ENST00000255136.3_Missense_Mutation_p.T474M|PABPC1L_ENST00000217073.2_Missense_Mutation_p.T474M|PABPC1L_ENST00000217075.2_Missense_Mutation_p.T28M|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron	p.T28M			Q4VXU2	PAP1L_HUMAN			1	1601	+			474			RRM 1.		Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.83C>T	CCDS42878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.195|3.195	-0.164928|-0.164928	0.06502|0.06502	0.0|0.0	2.79E-4|2.79E-4	ENSG00000101104|ENSG00000101104	ENST00000372826|ENST00000255136;ENST00000421240;ENST00000372821;ENST00000217073;ENST00000372824;ENST00000372819;ENST00000217075	.|T;T;T;T;T	.|0.42513	.|2.45;2.45;0.99;0.99;0.97	5.8|5.8	-5.13|-5.13	0.02884|0.02884	.|.	.|2.038600	.|0.01959	.|N	.|0.043214	T|T	0.14485|0.14485	0.0350|0.0350	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B;P	.|0.39782	.|0.053;0.688	.|B;B	.|0.30251	.|0.011;0.113	T|T	0.16630|0.16630	-1.0396|-1.0396	5|10	.|0.38643	.|T	.|0.18	.|.	5.5724|5.5724	0.17204|0.17204	0.3691:0.2486:0.0:0.3823|0.3691:0.2486:0.0:0.3823	.|.	.|474;28	.|Q4VXU2;G5E9L3	.|PAP1L_HUMAN;.	W|M	10|474;28;28;474;28;28;28	.|ENSP00000255136:T474M;ENSP00000217073:T474M;ENSP00000361911:T28M;ENSP00000361906:T28M;ENSP00000217075:T28M	.|ENSP00000217073:T474M	R|T	+|+	1|2	2|0	PABPC1L|PABPC1L	42995217|42995217	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.325000|-0.325000	0.07976|0.07976	-1.877000|-1.877000	0.01129|0.01129	-0.797000|-0.797000	0.03246|0.03246	CGG|ACG		0.647	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			4	63	0	0	0	1	0	4	63					T	43561803	C	T	43561803	3	4	79	1	0	0	0	0	1	0	0	0	11406	536	19	1	1459	1	PABPC1L	20	43561803	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31344	43561803	19463717	20255	30572											
TOMM34	10953	broad.mit.edu	37	chr20	43577463	43577463	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcccttctttacaagCtcattgccttcttccttcag	5	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43577463C>A	ENST00000372813.3	-	5	758	c.606G>T	c.(604-606)gaG>gaT	p.E202D	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	202					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTTTACAAGCTCATTGCCTT	0.453																																						ENST00000372813.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11						c.(604-606)gaG>gaT		translocase of outer mitochondrial membrane 34							233	190	204					20																	43577463		2203	4300	6503	SO:0001583	missense	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43577463C>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.606G>T	20.37:g.43577463C>A	ENSP00000361900:p.Glu202Asp					PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	p.E202D	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN			5	758	-		Myeloproliferative disorder(115;0.0122)	202					Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	c.606G>T	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493880	0.26774	.	.	ENSG00000025772	ENST00000372813	T	0.74209	-0.82	5.55	3.61	0.41365	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.317848	0.33144	N	0.005230	T	0.61098	0.2320	L	0.49350	1.555	0.23879	N	0.996584	B	0.09022	0.002	B	0.06405	0.002	T	0.41574	-0.9501	10	0.13853	T	0.58	-16.6456	5.1116	0.14811	0.0:0.6308:0.1648:0.2044	.	202	Q15785	TOM34_HUMAN	D	202	ENSP00000361900:E202D	ENSP00000361900:E202D	E	-	3	2	TOMM34	43010877	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.329000	0.19698	0.886000	0.36113	0.585000	0.79938	GAG		0.453	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809		57	257	1	0	2.84144e-21	1	3.19776e-21	57	257					A	43577463	C	A	43577463	3	1	79	1	0	0	0	0	1	0	0	0	16409	796	28	3	335	3	TOMM34	20	43577463	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15660	43577463	19448057	20256	30573											
KCNS1	3787	broad.mit.edu	37	chr20	43727300	43727300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggatcccggtgtcggggCccgggaactcgctcacaaag	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43727300C>T	ENST00000306117.1	-	4	509	c.113G>A	c.(112-114)gGc>gAc	p.G38D	KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	38					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGTGTCGGGGCCCGGGAACTC	0.697																																						ENST00000306117.1																			0				endometrium(1)|lung(3)|ovary(1)|stomach(1)	6						c.(112-114)gGc>gAc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1							6	7	7					20																	43727300		1925	4083	6008	SO:0001583	missense	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43727300C>T	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.113G>A	20.37:g.43727300C>T	ENSP00000307694:p.Gly38Asp					KCNS1_ENST00000537075.1_Missense_Mutation_p.G38D	p.G38D	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN			4	509	-		Myeloproliferative disorder(115;0.0122)	38					A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	ENST00000306117.1	37	c.113G>A	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.240233	0.01493	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96104	-3.91;-3.91	4.6	-0.95	0.10372	.	18.571000	0.00481	N	0.000133	D	0.87807	0.6270	N	0.08118	0	0.09310	N	1	B	0.23377	0.084	B	0.23574	0.047	T	0.81019	-0.1122	10	0.18710	T	0.47	.	4.4773	0.11750	0.2814:0.4911:0.0:0.2276	.	38	Q96KK3	KCNS1_HUMAN	D	38	ENSP00000307694:G38D;ENSP00000445595:G38D	ENSP00000307694:G38D	G	-	2	0	KCNS1	43160714	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.458000	0.06737	-0.489000	0.06716	-1.138000	0.01928	GGC		0.697	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251		11	58	0	0	0	1	0	11	58					T	43727300	C	T	43727300	3	4	79	1	0	0	0	0	1	0	0	0	8118	739	26	2	1475	2	KCNS1	20	43727300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149837	43727300	19298220	20257	30574											
MATN4	8785	broad.mit.edu	37	chr20	43933168	43933168	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggcgtactggattgccaGtcccgtcatggtgccttgcg	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43933168G>T	ENST00000372754.1	-	2	351	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.L115M|MATN4_ENST00000360607.6_Missense_Mutation_p.L115M|MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M			O95460	MATN4_HUMAN	matrilin 4	115	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)				TGGATTGCCAGTCCCGTCATG	0.677																																						ENST00000537548.1																			0				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						c.(343-345)Ctg>Atg		matrilin 4							19	17	18					20																	43933168		2199	4294	6493	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933168G>T	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.343C>A	20.37:g.43933168G>T	ENSP00000361840:p.Leu115Met					MATN4_ENST00000342716.4_Missense_Mutation_p.L115M|MATN4_ENST00000360607.5_Missense_Mutation_p.L115M|MATN4_ENST00000372754.1_Missense_Mutation_p.L115M|MATN4_ENST00000372756.1_Missense_Mutation_p.L115M|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.L115M|MATN4_ENST00000372753.1_Intron	p.L115M			O95460	MATN4_HUMAN			4	587	-		Myeloproliferative disorder(115;0.0122)	115			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.343C>A		.	.	.	.	.	.	.	.	.	.	G	20.1	3.932685	0.73442	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.81	3.83	0.44106	.	0.000000	0.34580	N	0.003846	D	0.90202	0.6937	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	0.982;1.0;0.994	D	0.90114	0.4194	10	0.52906	T	0.07	.	11.3513	0.49589	0.1481:0.0:0.8519:0.0	.	115;115;115	A6NNA4;O95460-4;O95460-2	.;.;.	M	115	ENSP00000361840:L115M;ENSP00000361842:L115M;ENSP00000243983:L115M;ENSP00000353819:L115M;ENSP00000343164:L115M;ENSP00000440328:L115M	ENSP00000255132:L115M	L	-	1	2	MATN4	43366582	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.524000	0.67105	2.506000	0.84524	0.462000	0.41574	CTG		0.677	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			26	87	1	0	1.42536e-11	1	1.52187e-11	26	87					T	43933168	G	T	43933168	3	4	79	1	0	0	0	0	1	0	0	0	9377	1020	36	3	1434	3	MATN4	20	43933168	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	205868	43933168	19092352	20258	30575											
RBPJL	11317	broad.mit.edu	37	chr20	43944880	43944880	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttaacgacagctcttgCtggaccatcatcggcaccga	9	14	2	0	rs536195781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43944880C>T	ENST00000343694.3	+	10	1146	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	RBPJL_ENST00000372741.3_Silent_p.C358C|RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000464504.1_Intron	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	358					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)				ACAGCTCTTGCTGGACCATCA	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18668	0.0		0.0	False		,,,				2504	0.0					ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1072-1074)tgC>tgT		recombination signal binding protein for immunoglobulin kappa J region-like							95	88	90					20																	43944880		2203	4300	6503	SO:0001819	synonymous_variant	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43944880C>T	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.1074C>T	20.37:g.43944880C>T						RBPJL_ENST00000372743.1_Silent_p.C358C|RBPJL_ENST00000372741.3_Silent_p.C358C|RBPJL_ENST00000464504.1_Intron	p.C358C	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			10	1146	+		Myeloproliferative disorder(115;0.0122)	358					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Silent	SNP	ENST00000343694.3	37	c.1074C>T	CCDS13349.1																																																																																				0.627	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		49	357	0	0	0	1	0	49	357					T	43944880	C	T	43944880	2	4	79	1	0	0	0	0	0	0	0	1	13212	805	28	2		2	RBPJL	20	43944880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11712	43944880	19080640	20259	30576											
SDC4	6385	broad.mit.edu	37	chr20	43959025	43959025	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cctgccaggacctccgttctCtcaaagatgttgctgccctg	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959025C>A	ENST00000372733.3	-	4	465	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCTCCGTTCTCTCAAAGATGT	0.547			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(424-426)gaG>gaT		syndecan 4							143	116	125					20																	43959025		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43959025C>A	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.426G>T	20.37:g.43959025C>A	ENSP00000361818:p.Glu142Asp					SDC4_ENST00000537976.1_Missense_Mutation_p.E70D	p.E142D	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			4	465	-		Myeloproliferative disorder(115;0.0122)	142					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.426G>T	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439599	0.63067	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.33865	1.39	5.93	2.97	0.34412	.	0.104334	0.64402	D	0.000003	T	0.45558	0.1348	L	0.53249	1.67	0.39346	D	0.965676	D	0.63046	0.992	P	0.60682	0.878	T	0.31024	-0.9958	10	0.33940	T	0.23	-35.7483	8.0908	0.30799	0.0:0.6743:0.0:0.3257	.	142	P31431	SDC4_HUMAN	D	142;70	ENSP00000361818:E142D	ENSP00000361818:E142D	E	-	3	2	SDC4	43392439	0.942000	0.31987	1.000000	0.80357	0.843000	0.47879	0.009000	0.13219	0.407000	0.25591	-0.126000	0.14955	GAG		0.547	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		74	282	1	0	2.09793e-52	1	2.60941e-52	74	282					A	43959025	C	A	43959025	3	1	79	1	0	0	0	0	1	0	0	0	14004	912	32	3	178	3	SDC4	20	43959025	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14145	43959025	19066495	20260	30577											
SDC4	6385	broad.mit.edu	37	chr20	43959167	43959167	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cggtggggacttggctcccaGaccctgccctctcagggata	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959167G>T	ENST00000372733.3	-	4	323	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	95					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TTGGCTCCCAGACCCTGCCCT	0.532			T	ROS1	NSCLC																																	ENST00000372733.3				Dom	yes		20	20q12	6385	T	syndecan 4			E	ROS1		NSCLC	SDC4/ROS1(7)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5						c.(283-285)tCt>tAt		syndecan 4							83	71	75					20																	43959167		2203	4300	6503	SO:0001583	missense	6385					extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity	g.chr20:43959167G>T	X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.284C>A	20.37:g.43959167G>T	ENSP00000361818:p.Ser95Tyr					SDC4_ENST00000537976.1_Missense_Mutation_p.S23Y	p.S95Y	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN			4	323	-		Myeloproliferative disorder(115;0.0122)	95					O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	ENST00000372733.3	37	c.284C>A	CCDS13350.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094382	0.36952	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.31769	1.48	5.68	4.73	0.59995	.	0.571570	0.15256	N	0.272065	T	0.24431	0.0592	N	0.14661	0.345	0.09310	N	1	P	0.47545	0.897	P	0.48571	0.582	T	0.06127	-1.0844	10	0.62326	D	0.03	-1.355	7.81	0.29226	0.0825:0.0:0.7478:0.1697	.	95	P31431	SDC4_HUMAN	Y	95;23	ENSP00000361818:S95Y	ENSP00000361818:S95Y	S	-	2	0	SDC4	43392581	0.259000	0.24043	0.943000	0.38184	0.300000	0.27592	2.058000	0.41374	1.403000	0.46800	0.561000	0.74099	TCT		0.532	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080515.1	NM_002999		38	182	1	0	1.04594e-18	1	1.16214e-18	38	182					T	43959167	G	T	43959167	3	4	79	1	0	0	0	0	1	0	0	0	14004	942	33	3	320	3	SDC4	20	43959167	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	43959167	19066353	20261	30578											
DBNDD2	55861	broad.mit.edu	37	chr20	44037151	44037151	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcgccagcagctccGccttcgggagcggcaaaaat	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44037151G>A	ENST00000372720.3	+	2	569	c.338G>A	c.(337-339)cGc>cAc	p.R113H	DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372712.2_Missense_Mutation_p.R15H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_3'UTR|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	113					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCGCCTTCGGGAG	0.547																																						ENST00000372712.2																			0				breast(1)|lung(2)	3						c.(43-45)cGc>cAc		dysbindin (dystrobrevin binding protein 1) domain containing 2							62	66	65					20																	44037151		1873	4102	5975	SO:0001583	missense	55861				negative regulation of protein kinase activity	cytoplasm	protein binding	g.chr20:44037151G>A	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"chromosome 20 open reading frame 35"	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.338G>A	20.37:g.44037151G>A	ENSP00000361805:p.Arg113His					DBNDD2_ENST00000372720.3_Missense_Mutation_p.R113H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R15H|DBNDD2_ENST00000372722.3_Missense_Mutation_p.R15H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R117H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R15H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R15H	p.R15H			Q9BQY9	DBND2_HUMAN			2	625	+		Myeloproliferative disorder(115;0.0122)	113					Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	c.44G>A	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.868796|4.868796	0.91587|0.91587	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000443296|ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710	.|T;T;T;T;T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.61|5.61	4.65|4.65	0.58169|0.58169	.|.	.|0.142639	.|0.45606	.|D	.|0.000356	T|T	0.26159|0.26159	0.0638|0.0638	M|M	0.62723|0.62723	1.935|1.935	0.38404|0.38404	D|D	0.945735|0.945735	.|B;B	.|0.31351	.|0.155;0.32	.|B;B	.|0.20955	.|0.022;0.032	T|T	0.19679|0.19679	-1.0298|-1.0298	5|10	.|0.54805	.|T	.|0.06	.|.	7.207|7.207	0.25913|0.25913	0.1654:0.0:0.8346:0.0|0.1654:0.0:0.8346:0.0	.|.	.|15;113	.|Q5QPV4;Q9BQY9	.|.;DBND2_HUMAN	T|H	75|15;15;15;113;15;15;15;117	.|ENSP00000361808:R15H;ENSP00000361807:R15H;ENSP00000349822:R15H;ENSP00000361805:R113H;ENSP00000361802:R15H;ENSP00000354250:R15H;ENSP00000361797:R15H;ENSP00000361795:R117H	.|ENSP00000349822:R15H	A|R	+|+	1|2	0|0	DBNDD2|DBNDD2	43470565|43470565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	5.342000|5.342000	0.65970|0.65970	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		110	471	0	0	0	1	0	110	471					A	44037151	G	A	44037151	3	1	79	1	0	0	0	0	1	0	0	0	4265	1087	38	1	46	1	DBNDD2	20	44037151	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77984	44037151	18988369	20262	30579											
WFDC10B	280664	broad.mit.edu	37	chr20	44333605	44333605	+	5'UTR	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgtcctacacttttgCttgccctcctttcacaagac	4	13	1	1	rs373376690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44333605C>A	ENST00000330523.5	-	0	53				MIR3617_ENST00000577518.1_RNA|WFDC10B_ENST00000335769.2_Missense_Mutation_p.S9I|WFDC13_ENST00000305479.2_Intron	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B							extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TACACTTTTGCTTGCCCTCCT	0.488																																						ENST00000335769.2																			0				lung(2)|ovary(1)|stomach(1)	4						c.(25-27)aGc>aTc		WAP four-disulfide core domain 10B							182	162	169					20																	44333605		2203	4300	6503	SO:0001623	5_prime_UTR_variant	280664					extracellular region	peptidase inhibitor activity	g.chr20:44333605C>A	AF454506	CCDS13365.1, CCDS13366.1	20q13.12	2013-01-21			ENSG00000182931	ENSG00000182931		"WAP four-disulfide core domain containing"	20479	protein-coding gene	gene with protein product						12206714	Standard	NM_172006		Approved	WAP12	uc002xpb.3	Q8IUB3	OTTHUMG00000130227	ENST00000330523.5:c.-178G>T	20.37:g.44333605C>A						WFDC13_ENST00000305479.2_Intron|WFDC10B_ENST00000330523.5_5'UTR	p.S9I	NM_172131.2	NP_742143.1	Q8IUB3	WF10B_HUMAN			1	53	-		Myeloproliferative disorder(115;0.0122)	0					A6PVD7|Q0VAG0|Q0VAG1|Q5TGZ5|Q8IUB4	Missense_Mutation	SNP	ENST00000330523.5	37	c.26G>T	CCDS13366.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575304	0.28092	.	.	ENSG00000182931	ENST00000335769	.	.	.	1.98	0.926	0.19430	.	.	.	.	.	T	0.36744	0.0978	.	.	.	0.09310	N	1	D	0.56035	0.974	P	0.48952	0.596	T	0.20042	-1.0287	7	0.87932	D	0	.	6.4225	0.21752	0.0:0.5811:0.4189:0.0	.	9	Q8IUB3-2	.	I	9	.	ENSP00000337466:S9I	S	-	2	0	WFDC10B	43767019	0.001000	0.12720	0.001000	0.08648	0.421000	0.31385	0.272000	0.18644	0.336000	0.23639	0.313000	0.20887	AGC		0.488	WFDC10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252547.1			17	931	1	0	8.28177e-16	1	9.06825e-16	17	931					A	44333605	C	A	44333605	1	1	79	0	1	0	0	0	0	0	0	0	17402	797	28	3		3	WFDC10B	20	44333605	5'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	296454	44333605	18691915	20263	30580											
WFDC3	140686	broad.mit.edu	37	chr20	44405742	44405742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctccgaggcaggtgcgGccacagccggtgctgcagca	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44405742G>A	ENST00000243938.4	-	5	548	c.465C>T	c.(463-465)ggC>ggT	p.G155G	WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron|RNU6ATAC38P_ENST00000408119.1_RNA|WFDC3_ENST00000372632.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	155	WAP 3. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGCAGGTGCGGCCACAGCCGG	0.562																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(463-465)ggC>ggT		WAP four-disulfide core domain 3							60	52	55					20																	44405742		2203	4300	6503	SO:0001819	synonymous_variant	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44405742G>A	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"WAP four-disulfide core domain containing"	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.465C>T	20.37:g.44405742G>A						WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Intron|WFDC3_ENST00000481847.1_Intron	p.G155G	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			5	548	-		Myeloproliferative disorder(115;0.0122)	155			WAP 3.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Silent	SNP	ENST00000243938.4	37	c.465C>T	CCDS33478.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278801	0.10458	.	.	ENSG00000124116	ENST00000337205	.	.	.	4.62	-5.88	0.02290	.	.	.	.	.	T	0.34308	0.0893	.	.	.	0.44966	D	0.99798	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-18.3447	0.1543	0.00096	0.3196:0.237:0.2028:0.2406	.	.	.	.	V	149	.	.	A	-	2	0	WFDC3	43839149	0.017000	0.18338	0.095000	0.20976	0.737000	0.42083	-1.363000	0.02592	-0.847000	0.04168	-0.137000	0.14449	GCC		0.562	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			53	206	0	0	0	1	0	53	206					A	44405742	G	A	44405742	2	1	79	1	0	0	0	0	0	0	0	1	17407	1190	42	2		2	WFDC3	20	44405742	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72137	44405742	18619778	20264	30581											
DNTTIP1	116092	broad.mit.edu	37	chr20	44430041	44430041	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcccttttcttttagCgtggccgtcaggcagaagaa	9	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	ENST00000372622.3	+	6	510	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	148						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)				TTTCTTTTAGCGTGGCCGTCA	0.522																																						ENST00000372622.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						c.e6-1		deoxynucleotidyltransferase, terminal, interacting protein 1							98	93	95					20																	44430041		2203	4300	6503	SO:0001630	splice_region_variant	116092					nucleus		g.chr20:44430041C>T	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.442-1C>T	20.37:g.44430041C>T							p.R148_splice	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN			6	510	+		Myeloproliferative disorder(115;0.0122)	148					B2RA18|Q96DE3|Q9BQP2|Q9H148	Splice_Site	SNP	ENST00000372622.3	37	c.441_splice	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.970557|3.970557	0.74246|0.74246	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000372622;ENST00000415790	.|T;T	.|0.52057	.|0.8;0.68	6.06|6.06	5.08|5.08	0.68730|0.68730	.|.	.|0.165435	.|0.46758	.|D	.|0.000273	T|T	0.63343|0.63343	0.2503|0.2503	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69824	.|0.966	T|T	0.60672|0.60672	-0.7217|-0.7217	5|9	.|.	.|.	.|.	-10.899|-10.899	13.2985|13.2985	0.60311|0.60311	0.2813:0.7187:0.0:0.0|0.2813:0.7187:0.0:0.0	.|.	.|148	.|Q9H147	.|TDIF1_HUMAN	V|C	98|148;108	.|ENSP00000361705:R148C;ENSP00000392509:R108C	.|.	A|R	+|+	2|1	0|0	DNTTIP1|DNTTIP1	43863448|43863448	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	2.741000|2.741000	0.47426|0.47426	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951	Missense_Mutation	89	415	0	0	0	1	0	89	415					T	44430041	C	T	44430041	5	4	79	1	0	0	0	0	0	0	1	0	4697	782	27	1	464	1	DNTTIP1	20	44430041	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24299	44430041	18595479	20265	30582											
TNNC2	7125	broad.mit.edu	37	chr20	44452970	44452970	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcggccagctcctcctcgCtcttccctttcgcgtcctct	6	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44452970C>A	ENST00000372555.3	-	4	367	c.275G>T	c.(274-276)aGc>aTc	p.S92I	TNNC2_ENST00000372557.1_Missense_Mutation_p.S77I	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	92	EF-hand 3. {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)	CTCCTCCTCGCTCTTCCCTTT	0.657																																						ENST00000372557.1																			0				endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(229-231)aGc>aTc		troponin C type 2 (fast)							70	65	66					20																	44452970		2203	4300	6503	SO:0001583	missense	7125				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	g.chr20:44452970C>A		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.275G>T	20.37:g.44452970C>A	ENSP00000361636:p.Ser92Ile					TNNC2_ENST00000372555.3_Missense_Mutation_p.S92I	p.S77I			P02585	TNNC2_HUMAN			5	437	-		Myeloproliferative disorder(115;0.0122)	92			EF-hand 2.		Q6FH92	Missense_Mutation	SNP	ENST00000372555.3	37	c.230G>T	CCDS13375.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794949	0.50208	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.63744	-0.06;-0.06	4.48	2.39	0.29439	EF-hand-like domain (1);	0.085611	0.85682	D	0.000000	T	0.56790	0.2009	M	0.63843	1.955	0.53688	D	0.999974	P	0.39060	0.657	B	0.34180	0.177	T	0.66329	-0.5951	10	0.87932	D	0	-21.9345	14.1434	0.65334	0.0:0.5939:0.4061:0.0	.	92	P02585	TNNC2_HUMAN	I	77;92	ENSP00000361638:S77I;ENSP00000361636:S92I	ENSP00000361636:S92I	S	-	2	0	TNNC2	43886377	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.604000	0.36804	1.085000	0.41206	0.544000	0.68410	AGC		0.657	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279		78	350	1	0	4.01556e-35	1	4.78946e-35	78	350					A	44452970	C	A	44452970	3	1	79	1	0	0	0	0	1	0	0	0	16377	797	28	3	219	3	TNNC2	20	44452970	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22929	44452970	18572550	20266	30583											
SNX21	90203	broad.mit.edu	37	chr20	44463645	44463645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagtcagctcctggcgCggcagctgcaggatttctgg	17	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44463645C>T	ENST00000491381.1	+	3	405	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	SNX21_ENST00000372542.1_Missense_Mutation_p.R104W|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000344780.4_3'UTR|TNNC2_ENST00000372557.1_5'Flank|SNX21_ENST00000462307.1_Missense_Mutation_p.R113W			Q969T3	SNX21_HUMAN	sorting nexin family member 21	113					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGGCGCGGCAGCTGCA	0.617																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(310-312)Cgg>Tgg		sorting nexin family member 21							83	82	82					20																	44463645		2203	4300	6503	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44463645C>T	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.337C>T	20.37:g.44463645C>T	ENSP00000418593:p.Arg113Trp					SNX21_ENST00000462307.1_Missense_Mutation_p.R113W|SNX21_ENST00000491381.1_Missense_Mutation_p.R113W|SNX21_ENST00000372541.1_Missense_Mutation_p.R104W|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R113W	p.R104W			Q969T3	SNX21_HUMAN			2	622	+		Myeloproliferative disorder(115;0.0122)	113					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.310C>T	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132239	0.56828	.	.	ENSG00000124104	ENST00000462307;ENST00000491381;ENST00000342644;ENST00000372542;ENST00000372541;ENST00000372545	T;T;T	0.54866	0.63;0.55;0.64	5.25	2.09	0.27110	.	0.239788	0.33401	N	0.004947	T	0.55401	0.1918	N	0.24115	0.695	0.24096	N	0.995898	D;D;D;D;D;D	0.89917	0.998;0.998;0.99;0.999;1.0;0.999	P;P;P;P;D;P	0.68765	0.809;0.876;0.712;0.809;0.96;0.893	T	0.52917	-0.8511	10	0.87932	D	0	-9.7916	12.2554	0.54621	0.5113:0.4887:0.0:0.0	.	104;104;113;113;113;113	Q5JZH4;Q5JZH3;Q969T3;Q5JZH7;Q05DJ0;Q5JZH5	.;.;SNX21_HUMAN;.;.;.	W	113;113;113;104;104;104	ENSP00000418593:R113W;ENSP00000344586:R113W;ENSP00000361620:R104W	ENSP00000344586:R113W	R	+	1	2	SNX21	43897052	0.979000	0.34478	0.022000	0.16811	0.267000	0.26476	1.715000	0.37971	0.269000	0.21961	0.563000	0.77884	CGG		0.617	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		110	544	0	0	0	1	0	110	544					T	44463645	C	T	44463645	3	4	79	1	0	0	0	0	1	0	0	0	14943	759	27	1	347	1	SNX21	20	44463645	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10675	44463645	18561875	20267	30584											
ACOT8	10005	broad.mit.edu	37	chr20	44472353	44472353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtgcatcttcatgtcGccctcgcctgcaacaggtcc	9	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472353G>A	ENST00000217455.4	-	5	744	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	218					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)				TCTTCATGTCGCCCTCGCCTG	0.617																																						ENST00000217455.4																			0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(652-654)ggC>ggT		acyl-CoA thioesterase 8							49	43	45					20																	44472353		2203	4300	6503	SO:0001819	synonymous_variant	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44472353G>A	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.654C>T	20.37:g.44472353G>A							p.G218G	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN			5	744	-		Myeloproliferative disorder(115;0.0122)	218					O15261|Q17RX4	Silent	SNP	ENST00000217455.4	37	c.654C>T	CCDS13378.1																																																																																				0.617	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		50	222	0	0	0	1	0	50	222					A	44472353	G	A	44472353	2	1	79	1	0	0	0	0	0	0	0	1	156	1074	38	1		1	ACOT8	20	44472353	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8708	44472353	18553167	20268	30585											
C20orf165	128497	broad.mit.edu	37	chr20	44515471	44515471	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccacacagcatcaggggCctaggcctgctggggccacc	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44515471C>T	ENST00000372519.3	-	2	413	c.369G>A	c.(367-369)agG>agA	p.R123R		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	123					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCATCAGGGGCCTAGGCCTGC	0.632																																						ENST00000372519.3																			0											c.(367-369)agG>agA		spermatogenesis associated 25							77	81	80					20																	44515471		2203	4300	6503	SO:0001819	synonymous_variant	128497					integral to membrane		g.chr20:44515471C>T	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.369G>A	20.37:g.44515471C>T							p.R123R	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	413	-			123						Silent	SNP	ENST00000372519.3	37	c.369G>A	CCDS13383.1																																																																																				0.632	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			128	583	0	0	0	1	0	128	583					T	44515471	C	T	44515471	2	4	79	1	0	0	0	0	0	0	0	1	2101	738	26	2		2	C20orf165	20	44515471	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43118	44515471	18510049	20269	30586											
NEURL2	140825	broad.mit.edu	37	chr20	44519145	44519145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagagccctggccggctGcggcccaccaggcggtcccg	15	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44519145G>A	ENST00000372518.4	-	1	781	c.486C>T	c.(484-486)cgC>cgT	p.R162R	CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000372484.3_5'Flank|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372459.2_5'Flank|SPATA25_ENST00000372519.3_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	162	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGGCCGGCTGCGGCCCACCA	0.667																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(484-486)cgC>cgT		neuralized E3 ubiquitin protein ligase 2							34	41	39					20																	44519145		2202	4294	6496	SO:0001819	synonymous_variant	140825				intracellular signal transduction			g.chr20:44519145G>A	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"chromosome 20 open reading frame 163", "neuralized-like 2 (Drosophila)", "neuralized homolog 2 (Drosophila)"	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.486C>T	20.37:g.44519145G>A							p.R162R	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			1	781	-		Myeloproliferative disorder(115;0.0122)	162			NHR.		Q3KR34	Silent	SNP	ENST00000372518.4	37	c.486C>T	CCDS13384.1																																																																																				0.667	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			96	415	0	0	0	1	0	96	415					A	44519145	G	A	44519145	2	1	79	1	0	0	0	0	0	0	0	1	10388	1306	46	2		2	NEURL2	20	44519145	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3674	44519145	18506375	20270	30587											
CTSA	5476	broad.mit.edu	37	chr20	44521862	44521862	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggtgtttcacaggggCtggctgtgggcaatggactc	16	10	1	0	rs377543110		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44521862C>T	ENST00000372459.2	+	6	797	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	CTSA_ENST00000354880.5_Silent_p.L203L|CTSA_ENST00000191018.5_Silent_p.L202L|CTSA_ENST00000372484.3_Silent_p.L220L|RP3-337O18.9_ENST00000607703.1_RNA|NEURL2_ENST00000372518.4_5'Flank			P10619	PPGB_HUMAN	cathepsin A	202					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCACAGGGGCTGGCTGTGGG	0.552																																						ENST00000372484.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(658-660)Ctg>Ttg		cathepsin A		C	,,	0,4406		0,0,2203	102	88	93		658,604,607	3.2	1	20		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	CTSA	NM_000308.2,NM_001127695.1,NM_001167594.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	220/499,202/481,203/482	44521862	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44521862C>T	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"Cathepsins"	9251	protein-coding gene	gene with protein product	"carboxypeptidase C", "lysosomal protective protein", "carboxypeptidase-L", "carboxypeptidase Y-like kininase", "deamidase", "lysosomal carboxypeptidase A", "urinary kininase"	613111	"protective protein for beta-galactosidase (galactosialidosis)"	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.604C>T	20.37:g.44521862C>T						RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000354880.5_Silent_p.L203L|CTSA_ENST00000191018.5_Silent_p.L202L|CTSA_ENST00000372459.2_Silent_p.L202L	p.L220L	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN			7	940	+		Myeloproliferative disorder(115;0.0122)	202					B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Silent	SNP	ENST00000372459.2	37	c.658C>T	CCDS46609.1																																																																																				0.552	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308		45	227	0	0	0	1	0	45	227					T	44521862	C	T	44521862	2	4	79	1	0	0	0	0	0	0	0	1	4040	796	28	2		2	CTSA	20	44521862	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2717	44521862	18503658	20271	30588											
PLTP	5360	broad.mit.edu	37	chr20	44528125	44528125	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttcgtcaccacctcatgCacaaagttgatgccctcagg	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44528125C>T	ENST00000477313.1	-	14	1929	c.1335G>A	c.(1333-1335)gtG>gtA	p.V445V	PLTP_ENST00000372420.1_Silent_p.V357V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000542937.1_Silent_p.V465V|PLTP_ENST00000372431.3_Silent_p.V445V			P55058	PLTP_HUMAN	phospholipid transfer protein	445					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)				CCACCTCATGCACAAAGTTGA	0.642																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1393-1395)gtG>gtA		phospholipid transfer protein							115	89	98					20																	44528125		2203	4300	6503	SO:0001819	synonymous_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44528125C>T	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.1335G>A	20.37:g.44528125C>T						PLTP_ENST00000477313.1_Silent_p.V445V|PLTP_ENST00000354050.4_Silent_p.V393V|PLTP_ENST00000420868.2_Silent_p.V350V|PLTP_ENST00000372420.1_Silent_p.V357V|PLTP_ENST00000372431.3_Silent_p.V445V	p.V465V			P55058	PLTP_HUMAN			14	1929	-		Myeloproliferative disorder(115;0.0122)	445					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	c.1395G>A	CCDS13386.1																																																																																				0.642	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		70	346	0	0	0	1	0	70	346					T	44528125	C	T	44528125	2	4	79	1	0	0	0	0	0	0	0	1	12156	697	25	2		2	PLTP	20	44528125	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6263	44528125	18497395	20272	30589											
PCIF1	63935	broad.mit.edu	37	chr20	44574362	44574362	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccacagaggaggtggaggCccctgaggtggagccccgcc	17	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44574362C>T	ENST00000372409.3	+	12	1545	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	394					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGTGGAGGCCCCTGAGGTG	0.627																																						ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(1180-1182)gCc>gTc		PDX1 C-terminal inhibiting factor 1							50	48	49					20																	44574362		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44574362C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1181C>T	20.37:g.44574362C>T	ENSP00000361486:p.Ala394Val					PCIF1_ENST00000479348.1_3'UTR	p.A394V	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			12	1545	+			394					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1181C>T	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846816	0.32606	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.232564	0.43579	D	0.000542	T	0.24586	0.0596	N	0.02539	-0.55	0.39209	D	0.963286	B	0.02656	0.0	B	0.04013	0.001	T	0.20472	-1.0274	9	0.15952	T	0.53	-15.6623	10.6663	0.45732	0.0:0.9124:0.0:0.0876	.	394	Q9H4Z3	PCIF1_HUMAN	V	394	.	ENSP00000361486:A394V	A	+	2	0	PCIF1	44007769	0.976000	0.34144	0.999000	0.59377	0.847000	0.48162	2.471000	0.45127	2.615000	0.88500	0.558000	0.71614	GCC		0.627	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		46	244	0	0	0	1	0	46	244					T	44574362	C	T	44574362	3	4	79	1	0	0	0	0	1	0	0	0	11622	739	26	2	1219	2	PCIF1	20	44574362	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46237	44574362	18451158	20273	30590											
ZNF335	63925	broad.mit.edu	37	chr20	44582471	44582471	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctcggctgctgcaccGccccctggctctgccacgtg	12	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44582471G>A	ENST00000322927.2	-	18	2659	c.2559C>T	c.(2557-2559)ggC>ggT	p.G853G	ZNF335_ENST00000426788.1_Silent_p.G698G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	853					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCACCGCCCCCTGGCT	0.642																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2557-2559)ggC>ggT		zinc finger protein 335							56	49	51					20																	44582471		2203	4300	6503	SO:0001819	synonymous_variant	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44582471G>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2559C>T	20.37:g.44582471G>A						ZNF335_ENST00000426788.1_Silent_p.G698G	p.G853G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			18	2659	-		Myeloproliferative disorder(115;0.0122)	853					B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	c.2559C>T	CCDS13389.1																																																																																				0.642	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		38	151	0	0	0	1	0	38	151					A	44582471	G	A	44582471	2	1	79	1	0	0	0	0	0	0	0	1	17905	1074	38	1		1	ZNF335	20	44582471	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8109	44582471	18443049	20274	30591											
ZNF335	63925	broad.mit.edu	37	chr20	44588995	44588995	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcacaaacaaactcacagaaCtcacacttgaacctggaggc	6	13	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44588995C>A	ENST00000322927.2	-	14	1972	c.1872G>T	c.(1870-1872)gaG>gaT	p.E624D	ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	624					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACTCACAGAACTCACACTTGA	0.552																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1870-1872)gaG>gaT		zinc finger protein 335							85	100	95					20																	44588995		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44588995C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1872G>T	20.37:g.44588995C>A	ENSP00000325326:p.Glu624Asp					ZNF335_ENST00000426788.1_Missense_Mutation_p.E469D	p.E624D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			14	1972	-		Myeloproliferative disorder(115;0.0122)	624					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1872G>T	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254580	0.39896	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.27720	1.65;1.65	5.37	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.24115	0.695	0.51482	D	0.999921	D;D	0.71674	0.998;0.997	D;D	0.77557	0.99;0.978	T	0.06023	-1.0850	10	0.24483	T	0.36	-27.9562	11.7575	0.51884	0.0:0.8556:0.0:0.1444	.	469;624	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	624;401;469	ENSP00000325326:E624D;ENSP00000397098:E469D	ENSP00000243961:E401D	E	-	3	2	ZNF335	44022402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.980000	0.29513	1.511000	0.48818	0.650000	0.86243	GAG		0.552	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		34	210	1	0	3.90053e-15	1	4.25374e-15	34	210					A	44588995	C	A	44588995	3	1	79	1	0	0	0	0	1	0	0	0	17905	564	20	3	2216	3	ZNF335	20	44588995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6524	44588995	18436525	20275	30592											
ZNF335	63925	broad.mit.edu	37	chr20	44592534	44592534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caccttgcccatggccaccaGgtgtcctgggcctgaggagc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44592534G>T	ENST00000322927.2	-	8	1298	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	400					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCCACCAGGTGTCCTGGG	0.637																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1198-1200)Ctg>Atg		zinc finger protein 335							53	49	51					20																	44592534		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44592534G>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1198C>A	20.37:g.44592534G>T	ENSP00000325326:p.Leu400Met					ZNF335_ENST00000426788.1_Missense_Mutation_p.L245M	p.L400M	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			8	1298	-		Myeloproliferative disorder(115;0.0122)	400					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.1198C>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902203	0.17760	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.09445	3.12;2.98	4.43	2.4	0.29515	.	0.911529	0.09339	N	0.815734	T	0.10551	0.0258	N	0.19112	0.55	0.09310	N	1	P;P	0.41848	0.763;0.651	P;B	0.47528	0.549;0.241	T	0.34502	-0.9826	10	0.35671	T	0.21	-2.7554	7.4038	0.26979	0.2087:0.0:0.7913:0.0	.	245;400	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	M	400;177;245	ENSP00000325326:L400M;ENSP00000397098:L245M	ENSP00000243961:L177M	L	-	1	2	ZNF335	44025941	0.001000	0.12720	0.047000	0.18901	0.374000	0.29953	0.760000	0.26475	1.077000	0.40990	0.555000	0.69702	CTG		0.637	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		32	286	1	0	3.69857e-22	1	4.18031e-22	32	286					T	44592534	G	T	44592534	3	4	79	1	0	0	0	0	1	0	0	0	17905	991	35	3	2914	3	ZNF335	20	44592534	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3539	44592534	18432986	20276	30593											
ZNF335	63925	broad.mit.edu	37	chr20	44599953	44599953	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgtcggcggacacggcttCtgaggtgcccacacccaggc	14	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44599953C>A	ENST00000322927.2	-	2	197	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'Flank	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	33					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACACGGCTTCTGAGGTGCCC	0.731																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(97-99)Gaa>Taa		zinc finger protein 335							6	8	7					20																	44599953		2100	4143	6243	SO:0001587	stop_gained	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44599953C>A	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.97G>T	20.37:g.44599953C>A	ENSP00000325326:p.Glu33*					ZNF335_ENST00000426788.1_Intron	p.E33*	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			2	197	-		Myeloproliferative disorder(115;0.0122)	33					B4DLG7|Q548D0|Q9H684	Nonsense_Mutation	SNP	ENST00000322927.2	37	c.97G>T	CCDS13389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.966576|6.966576	0.97967|0.97967	.|.	.|.	ENSG00000198026|ENSG00000198026	ENST00000243961|ENST00000322927	.|.	.|.	.|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.52906	.|T	.|0.07	.|-15.8841	15.5037|15.5037	0.75722|0.75722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|33	.|.	.|ENSP00000325326:E33X	.|E	-|-	.|1	.|0	ZNF335|ZNF335	44033360|44033360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	6.545000|6.545000	0.73883|0.73883	2.677000|2.677000	0.91161|0.91161	0.563000|0.563000	0.77884|0.77884	.|GAA		0.731	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		21	79	1	0	3.62473e-10	1	3.83521e-10	21	79					A	44599953	C	A	44599953	4	1	79	1	0	0	0	0	0	1	0	0	17905	922	32	3	4039	3	ZNF335	20	44599953	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7419	44599953	18425567	20277	30594											
MMP9	4318	broad.mit.edu	37	chr20	44641175	44641176	+	Frame_Shift_Ins	INS	-	-	C													tgtaccgcttcactgaggggINSccccccttgcataaggacga							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44641175_44641176insC	ENST00000372330.3	+	8	1303_1304	c.1284_1285insC	c.(1285-1287)cccfs	p.P429fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	429					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCACTGAGGGGCCCCCCTTGCA	0.629																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1282-1287)ggccccfs		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)																																			SO:0001589	frameshift_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44641175_44641176insC		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.1290dupC	20.37:g.44641181_44641181dupC	ENSP00000361405:p.Pro429fs						p.GP428fs	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			8	1303_1304	+		Myeloproliferative disorder(115;0.0122)	428					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Frame_Shift_Ins	INS	ENST00000372330.3	37	c.1284_1285insC	CCDS13390.1																																																																																				0.629	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			79	433						79	433	---	---	---	---	C	44641176	-	C	44641175	7	5	79	1	0	1	1	0	0	0	0	0	9710	1190	42	0	1314	0	MMP9	20	44641175	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	41222	44641175	18384345	20278	30595											
MMP9	4318	broad.mit.edu	37	chr20	44644913	44644913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctatttctgccaggaccGcttctactggcgcgtgagtt	11	12	2	1	rs200118434		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44644913G>A	ENST00000372330.3	+	13	2049	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	677					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TGCCAGGACCGCTTCTACTGG	0.522																																						ENST00000372330.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(2029-2031)cGc>cAc		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						116	101	106					20																	44644913		2203	4300	6503	SO:0001583	missense	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44644913G>A		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.2030G>A	20.37:g.44644913G>A	ENSP00000361405:p.Arg677His					RP11-465L10.10_ENST00000535913.1_RNA	p.R677H	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN			13	2049	+		Myeloproliferative disorder(115;0.0122)	677			Hemopexin-like 4.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	ENST00000372330.3	37	c.2030G>A	CCDS13390.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829338	0.71258	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.03035	4.07	4.59	0.258	0.15578	Hemopexin/matrixin (2);	0.810139	0.11279	N	0.580598	T	0.03305	0.0096	L	0.35723	1.085	0.34728	D	0.729424	P	0.51147	0.942	B	0.42112	0.376	T	0.54344	-0.8308	10	0.42905	T	0.14	.	4.3195	0.11009	0.2953:0.0:0.5408:0.1639	.	677	P14780	MMP9_HUMAN	H	677;247	ENSP00000361405:R677H	ENSP00000361405:R677H	R	+	2	0	MMP9	44078320	0.859000	0.29813	0.981000	0.43875	0.972000	0.66771	1.385000	0.34408	0.535000	0.28714	0.650000	0.86243	CGC		0.522	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			18	348	0	0	0	1	0	18	348					A	44644913	G	A	44644913	3	1	79	1	0	0	0	0	1	0	0	0	9710	1087	38	1	2080	1	MMP9	20	44644913	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3738	44644913	18380607	20279	30596											
SLC12A5	57468	broad.mit.edu	37	chr20	44669988	44669988	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctgcctcctgggtaaccGcacgctgtctcgccatggct	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	ENST00000454036.2	+	8	993	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	315					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)	CTGGGTAACCGCACGCTGTCT	0.582																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(943-945)cGc>cAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						92	84	86					20																	44669988		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669988G>A	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.944G>A	20.37:g.44669988G>A	ENSP00000387694:p.Arg315His					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.R292H	p.R315H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			8	1020	+		Myeloproliferative disorder(115;0.0122)	315					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.944G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	32	5.188788	0.94923	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.69306	-0.39;-0.39	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	M	0.76328	2.33	0.80722	D	1	D;D	0.59357	0.985;0.968	P;B	0.49561	0.615;0.429	T	0.73902	-0.3836	10	0.33141	T	0.24	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	315;292	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	H	315;292	ENSP00000387694:R315H;ENSP00000243964:R292H	ENSP00000243964:R292H	R	+	2	0	SLC12A5	44103395	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.657000	0.98554	2.457000	0.83068	0.655000	0.94253	CGC		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			57	265	0	0	0	1	0	57	265					A	44669988	G	A	44669988	3	1	79	1	0	0	0	0	1	0	0	0	14436	1087	38	1	1030	1	SLC12A5	20	44669988	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25075	44669988	18355532	20280	30597											
SLC12A5	57468	broad.mit.edu	37	chr20	44671804	44671804	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacagagaacctctggaGctcctacctgaccaagggcg	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671804G>A	ENST00000454036.2	+	9	1197	c.1148G>A	c.(1147-1149)aGc>aAc	p.S383N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	383					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)	AACCTCTGGAGCTCCTACCTG	0.602																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1147-1149)aGc>aAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						153	141	145					20																	44671804		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671804G>A	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.1148G>A	20.37:g.44671804G>A	ENSP00000387694:p.Ser383Asn					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.S360N	p.S383N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			9	1224	+		Myeloproliferative disorder(115;0.0122)	383					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1148G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806764	0.50421	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.68624	-0.34;-0.34	4.47	4.47	0.54385	.	0.052501	0.85682	D	0.000000	T	0.64461	0.2600	M	0.73430	2.235	0.80722	D	1	B;B	0.30727	0.118;0.292	B;B	0.33750	0.072;0.169	T	0.59658	-0.7413	10	0.13470	T	0.59	.	12.5309	0.56115	0.0:0.1678:0.8322:0.0	.	383;360	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	383;360	ENSP00000387694:S383N;ENSP00000243964:S360N	ENSP00000243964:S360N	S	+	2	0	SLC12A5	44105211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.158000	0.71851	2.470000	0.83445	0.462000	0.41574	AGC		0.602	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			16	1076	0	0	0	1	0	16	1076					A	44671804	G	A	44671804	3	1	79	1	0	0	0	0	1	0	0	0	14436	971	34	2	1238	2	SLC12A5	20	44671804	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1816	44671804	18353716	20281	30598											
SLC12A5	57468	broad.mit.edu	37	chr20	44671916	44671916	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcttcagtgatatgacCtcctacttcaccctgctggt	7	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	ENST00000454036.2	+	9	1309	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	SLC12A5_ENST00000243964.3_Silent_p.T397T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	420					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)	GTGATATGACCTCCTACTTCA	0.567																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1258-1260)acC>acA		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						297	251	266					20																	44671916		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44671916C>A	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.1260C>A	20.37:g.44671916C>A						SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.T397T	p.T420T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			9	1336	+		Myeloproliferative disorder(115;0.0122)	420					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1260C>A	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			232	1148	1	0	2.64144e-59	1	3.31638e-59	232	1148					A	44671916	C	A	44671916	2	1	79	1	0	0	0	0	0	0	0	1	14436	668	24	3		3	SLC12A5	20	44671916	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	112	44671916	18353604	20282	30599											
SLC12A5	57468	broad.mit.edu	37	chr20	44680390	44680390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccaacttgcgtgatgGcgtgtcccatctgatccagt	9	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	ENST00000454036.2	+	18	2376	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	776					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)	TTGCGTGATGGCGTGTCCCAT	0.607																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(2326-2328)gGc>gAc		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						113	103	106					20																	44680390		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44680390G>A	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.2327G>A	20.37:g.44680390G>A	ENSP00000387694:p.Gly776Asp					SLC12A5_ENST00000243964.3_Missense_Mutation_p.G753D	p.G776D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			18	2403	+		Myeloproliferative disorder(115;0.0122)	776					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.2327G>A	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340323	0.81911	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.97186	-4.28;-4.28	4.19	4.19	0.49359	.	0.136206	0.50627	D	0.000118	D	0.98406	0.9470	M	0.87180	2.865	0.80722	D	1	D;D	0.67145	0.996;0.992	D;D	0.68192	0.956;0.926	D	0.99201	1.0873	10	0.66056	D	0.02	.	16.0375	0.80640	0.0:0.0:1.0:0.0	.	776;753	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	D	776;753	ENSP00000387694:G776D;ENSP00000243964:G753D	ENSP00000243964:G753D	G	+	2	0	SLC12A5	44113797	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.978000	0.63799	2.302000	0.77476	0.462000	0.41574	GGC		0.607	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			22	553	0	0	0	1	0	22	553					A	44680390	G	A	44680390	3	1	79	1	0	0	0	0	1	0	0	0	14436	1203	42	2	2453	2	SLC12A5	20	44680390	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8474	44680390	18345130	20283	30600											
NCOA5	57727	broad.mit.edu	37	chr20	44691163	44691163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggctggccaaaaagcccttGggaaggagccccaggtctgg	15	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44691163G>T	ENST00000290231.6	-	8	1680	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	506	Transcription activation.				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)				AAAAGCCCTTGGGAAGGAGCC	0.552																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1516-1518)Caa>Aaa		nuclear receptor coactivator 5							49	51	51					20																	44691163		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691163G>T		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.1516C>A	20.37:g.44691163G>T	ENSP00000290231:p.Gln506Lys						p.Q506K	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1680	-		Myeloproliferative disorder(115;0.0122)	506			Transcription activation.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.1516C>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765540	0.31228	.	.	ENSG00000124160	ENST00000290231	T	0.50548	0.74	5.54	4.59	0.56863	.	0.457422	0.24983	N	0.034056	T	0.42653	0.1212	L	0.34521	1.04	0.45914	D	0.998751	D	0.54964	0.969	P	0.49361	0.608	T	0.23048	-1.0199	10	0.07325	T	0.83	-0.4782	15.7475	0.77958	0.0:0.1365:0.8635:0.0	.	506	Q9HCD5	NCOA5_HUMAN	K	506	ENSP00000290231:Q506K	ENSP00000290231:Q506K	Q	-	1	0	NCOA5	44124570	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.646000	0.74348	1.567000	0.49668	-0.165000	0.13383	CAA		0.552	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		11	339	1	0	4.68919e-08	1	4.88816e-08	11	339					T	44691163	G	T	44691163	3	4	79	1	0	0	0	0	1	0	0	0	10274	1357	47	3	227	3	NCOA5	20	44691163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10773	44691163	18334357	20284	30601											
NCOA5	57727	broad.mit.edu	37	chr20	44692047	44692047	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgctccttccgctctcGcaggtagttgatgatcttgt	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44692047G>A	ENST00000290231.6	-	7	1266	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	368					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)				TTCCGCTCTCGCAGGTAGTTG	0.577																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1102-1104)Cga>Tga		nuclear receptor coactivator 5							74	66	68					20																	44692047		2203	4300	6503	SO:0001587	stop_gained	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44692047G>A		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.1102C>T	20.37:g.44692047G>A	ENSP00000290231:p.Arg368*						p.R368*	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			7	1266	-		Myeloproliferative disorder(115;0.0122)	368					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	37	c.1102C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534672	0.96460	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.41	5.41	0.78517	.	0.102256	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.982	13.8224	0.63331	0.0:0.0:0.8372:0.1628	.	.	.	.	X	368	.	ENSP00000290231:R368X	R	-	1	2	NCOA5	44125454	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.055000	0.41345	2.816000	0.96949	0.561000	0.74099	CGA		0.577	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		10	254	0	0	0	1	0	10	254					A	44692047	G	A	44692047	4	1	79	1	0	0	0	0	0	1	0	0	10274	1095	38	1	645	1	NCOA5	20	44692047	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	884	44692047	18333473	20285	30602											
NCOA5	57727	broad.mit.edu	37	chr20	44699120	44699120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctctccttggacttcctcGaattggggatcgatcacgcc	9	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44699120G>A	ENST00000290231.6	-	3	258	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	32	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)	p.R32*(1)		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)				GGACTTCCTCGAATTGGGGAT	0.532																																						ENST00000290231.6																			1	Substitution - Nonsense(1)	p.R32*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(94-96)Cga>Tga		nuclear receptor coactivator 5							101	100	100					20																	44699120		2203	4300	6503	SO:0001587	stop_gained	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699120G>A		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.94C>T	20.37:g.44699120G>A	ENSP00000290231:p.Arg32*						p.R32*	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			3	258	-		Myeloproliferative disorder(115;0.0122)	32			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	37	c.94C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998698	0.97189	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.39	5.39	0.77823	.	0.145205	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0361	18.3288	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000290231:R32X	R	-	1	2	NCOA5	44132527	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.473000	0.53122	2.801000	0.96364	0.650000	0.86243	CGA		0.532	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		138	572	0	0	0	1	0	138	572					A	44699120	G	A	44699120	4	1	79	1	0	0	0	0	0	1	0	0	10274	1066	37	1	1669	1	NCOA5	20	44699120	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7073	44699120	18326400	20286	30603											
CD40	958	broad.mit.edu	37	chr20	44756855	44756855	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcctcttggtgctggTctttatcagtgagtcctcag	10	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44756855T>C	ENST00000372285.3	+	7	710	c.638T>C	c.(637-639)gTc>gCc	p.V213A	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Silent_p.G192G	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	213					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				TTGGTGCTGGTCTTTATCAGT	0.542									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372285.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(637-639)gTc>gCc		CD40 molecule, TNF receptor superfamily member 5	Simvastatin(DB00641)						162	144	150					20																	44756855		2203	4300	6503	SO:0001583	missense	958	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	g.chr20:44756855T>C	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"Tumor necrosis factor receptor superfamily", "CD molecules"	11919	protein-coding gene	gene with protein product		109535	"tumor necrosis factor receptor superfamily, member 5"	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.638T>C	20.37:g.44756855T>C	ENSP00000361359:p.Val213Ala		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	926	CD40_ENST00000372276.3_Silent_p.G192G|CD40_ENST00000489304.1_3'UTR	p.V213A	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN			7	710	+		Myeloproliferative disorder(115;0.0122)	213					E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Missense_Mutation	SNP	ENST00000372285.3	37	c.638T>C	CCDS13393.1	.	.	.	.	.	.	.	.	.	.	T	6.980	0.550845	0.13374	.	.	ENSG00000101017	ENST00000372285	T	0.74737	-0.87	4.59	-1.44	0.08856	.	2587.460000	0.00166	N	0.000001	T	0.52468	0.1736	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29579	-1.0007	9	0.18276	T	0.48	-0.4864	1.3084	0.02092	0.164:0.15:0.1661:0.5199	.	213	P25942	TNR5_HUMAN	A	213	ENSP00000361359:V213A	ENSP00000361359:V213A	V	+	2	0	CD40	44190262	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	-0.453000	0.06778	0.064000	0.16427	0.402000	0.26972	GTC		0.542	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080376.1	NM_001250		15	521	0	0	0	1	0	15	521					C	44756855	T	C	44756855	3	2	79	1	0	0	0	0	1	0	0	0	3024	1667	58	4	664	4	CD40	20	44756855	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	57735	44756855	18268665	20287	30604											
CDH22	64405	broad.mit.edu	37	chr20	44803650	44803650	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgacgttgtcccgcatgtctTcatcctcgtccgagctcagg	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44803650T>C	ENST00000372262.3	-	11	2382	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	661					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)				CCGCATGTCTTCATCCTCGTC	0.627																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1981-1983)gAa>gGa		cadherin 22, type 2							46	47	47					20																	44803650		2159	4261	6420	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44803650T>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1982A>G	20.37:g.44803650T>C	ENSP00000361336:p.Glu661Gly					CDH22_ENST00000537909.1_Missense_Mutation_p.E661G	p.E661G	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			11	2382	-		Myeloproliferative disorder(115;0.0122)	661					B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1982A>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132480	0.77662	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.79352	-1.26;-1.26	4.03	4.03	0.46877	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.71296	2.17	0.44261	D	0.997118	D	0.89917	1.0	D	0.91635	0.999	D	0.87302	0.2306	10	0.87932	D	0	.	11.9296	0.52839	0.0:0.0:0.0:1.0	.	661	Q9UJ99	CAD22_HUMAN	G	661	ENSP00000361336:E661G;ENSP00000437790:E661G	ENSP00000361336:E661G	E	-	2	0	CDH22	44237057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.020000	0.57189	1.691000	0.51100	0.460000	0.39030	GAA		0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		50	266	0	0	0	1	0	50	266					C	44803650	T	C	44803650	3	2	79	1	0	0	0	0	1	0	0	0	3116	1783	62	4	508	4	CDH22	20	44803650	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	46795	44803650	18221870	20288	30605											
CDH22	64405	broad.mit.edu	37	chr20	44815292	44815292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaggcggaaatagaagCggtgcccgccttggggctcg	16	12	0	1	rs117065621	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815292C>T	ENST00000372262.3	-	9	1998	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	CDH22_ENST00000537909.1_Missense_Mutation_p.R533H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAAATAGAAGCGGTGCCCGCC	0.587													C|||	8	0.00159744	0.0	0.0072	5008	,	,		20301	0.0		0.003	False		,,,				2504	0.0					ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1597-1599)cGc>cAc		cadherin 22, type 2		C	HIS/ARG	4,4402	4.2+/-10.8	0,4,2199	76	72	74		1598	3.4	1	20	dbSNP_132	74	28,8572	19.8+/-62.0	0,28,4272	yes	missense	CDH22	NM_021248.1	29	0,32,6471	TT,TC,CC		0.3256,0.0908,0.246	benign	533/829	44815292	32,12974	2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815292C>T	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.1598G>A	20.37:g.44815292C>T	ENSP00000361336:p.Arg533His					CDH22_ENST00000537909.1_Missense_Mutation_p.R533H	p.R533H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			9	1998	-		Myeloproliferative disorder(115;0.0122)	533			Cadherin 5.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1598G>A	CCDS13395.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	7.196	0.592583	0.13875	9.08E-4	0.003256	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.51325	0.71;0.71	4.38	3.43	0.39272	Cadherin (4);Cadherin-like (1);	0.200609	0.44285	D	0.000472	T	0.27594	0.0678	N	0.17248	0.465	0.32239	N	0.573016	B	0.11235	0.004	B	0.06405	0.002	T	0.26224	-1.0109	10	0.09843	T	0.71	.	11.3224	0.49430	0.0:0.909:0.0:0.091	.	533	Q9UJ99	CAD22_HUMAN	H	533	ENSP00000361336:R533H;ENSP00000437790:R533H	ENSP00000361336:R533H	R	-	2	0	CDH22	44248699	0.988000	0.35896	1.000000	0.80357	0.992000	0.81027	0.903000	0.28475	0.844000	0.35094	0.442000	0.29010	CGC		0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		61	244	0	0	0	1	0	61	244					T	44815292	C	T	44815292	3	4	79	1	0	0	0	0	1	0	0	0	3116	768	27	1	900	1	CDH22	20	44815292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11642	44815292	18210228	20289	30606											
CDH22	64405	broad.mit.edu	37	chr20	44815312	44815312	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgcccgccttggggctcGtctctgtccaccacgctgat	12	16	1	1	rs374703253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815312G>A	ENST00000372262.3	-	9	1978	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_ENST00000537909.1_Silent_p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTGGGGCTCGTCTCTGTCCA	0.587																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1576-1578)gaC>gaT		cadherin 22, type 2		G		0,4406		0,0,2203	73	69	70		1578	-5.2	1	20		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH22	NM_021248.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		526/829	44815312	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815312G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1578C>T	20.37:g.44815312G>A						CDH22_ENST00000537909.1_Silent_p.D526D	p.D526D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			9	1978	-		Myeloproliferative disorder(115;0.0122)	526			Cadherin 5.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1578C>T	CCDS13395.1																																																																																				0.587	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		66	231	0	0	0	1	0	66	231					A	44815312	G	A	44815312	2	1	79	1	0	0	0	0	0	0	0	1	3116	1136	40	1		1	CDH22	20	44815312	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20	44815312	18210208	20290	30607											
CDH22	64405	broad.mit.edu	37	chr20	44815474	44815474	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggggtacctggcctggCttggcatcctcgcatacagc	12	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815474C>T	ENST00000372262.3	-	8	1936	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	CDH22_ENST00000537909.1_Silent_p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGCCTGGCTTGGCATCCT	0.617																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1534-1536)aaG>aaA		cadherin 22, type 2							148	133	138					20																	44815474		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815474C>T	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.1536G>A	20.37:g.44815474C>T						CDH22_ENST00000537909.1_Silent_p.K512K	p.K512K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			8	1936	-		Myeloproliferative disorder(115;0.0122)	512			Cadherin 5.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.1536G>A	CCDS13395.1																																																																																				0.617	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		31	664	0	0	0	1	0	31	664					T	44815474	C	T	44815474	2	4	79	1	0	0	0	0	0	0	0	1	3116	796	28	2		2	CDH22	20	44815474	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	162	44815474	18210046	20291	30608											
CDH22	64405	broad.mit.edu	37	chr20	44828116	44828116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccggccgtctcgcggtccaGccccttgccagtcacgatgg	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44828116G>T	ENST00000372262.3	-	7	1769	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	457	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGCGGTCCAGCCCCTTGCCA	0.652																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1369-1371)Ctg>Atg		cadherin 22, type 2							53	41	45					20																	44828116		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44828116G>T	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.1369C>A	20.37:g.44828116G>T	ENSP00000361336:p.Leu457Met					CDH22_ENST00000537909.1_Missense_Mutation_p.L457M	p.L457M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			7	1769	-		Myeloproliferative disorder(115;0.0122)	457			Cadherin 4.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1369C>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659496	0.47467	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.74842	-0.88;-0.88	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	D	0.89476	0.6726	H	0.94264	3.515	0.49130	D	0.999754	D	0.89917	1.0	D	0.97110	1.0	D	0.92205	0.5771	10	0.87932	D	0	.	14.8113	0.69996	0.0:0.0:1.0:0.0	.	457	Q9UJ99	CAD22_HUMAN	M	457	ENSP00000361336:L457M;ENSP00000437790:L457M	ENSP00000361336:L457M	L	-	1	2	CDH22	44261523	0.992000	0.36948	0.998000	0.56505	0.060000	0.15804	2.029000	0.41098	2.471000	0.83476	0.555000	0.69702	CTG		0.652	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		5	130	1	0	0.00116845	1	0.00118049	5	130					T	44828116	G	T	44828116	3	4	79	1	0	0	0	0	1	0	0	0	3116	962	34	3	1137	3	CDH22	20	44828116	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12642	44828116	18197404	20292	30609											
CDH22	64405	broad.mit.edu	37	chr20	44845469	44845469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaggcctcactcactctgCgggaaacggggcgggttgtc	16	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44845469C>T	ENST00000372262.3	-	4	1234	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.P278P	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTCACTCTGCGGGAAACGGG	0.612																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(832-834)ccG>ccA		cadherin 22, type 2							87	82	84					20																	44845469		2203	4300	6503	SO:0001819	synonymous_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44845469C>T	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.834G>A	20.37:g.44845469C>T						CDH22_ENST00000537909.1_Silent_p.P278P|CDH22_ENST00000474438.1_5'UTR	p.P278P	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			4	1234	-		Myeloproliferative disorder(115;0.0122)	278			Cadherin 3.		B9EGK7|O43205	Silent	SNP	ENST00000372262.3	37	c.834G>A	CCDS13395.1																																																																																				0.612	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		81	386	0	0	0	1	0	81	386					T	44845469	C	T	44845469	2	4	79	1	0	0	0	0	0	0	0	1	3116	755	27	1		1	CDH22	20	44845469	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17353	44845469	18180051	20293	30610											
ELMO2	63916	broad.mit.edu	37	chr20	45022235	45022235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatactctgggtttggcaacGaccacctatgcaagagaaaa	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45022235G>A	ENST00000290246.6	-	5	319	c.125C>T	c.(124-126)tCg>tTg	p.S42L	ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	42					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)				GTTTGGCAACGACCACCTATG	0.453																																						ENST00000290246.6																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(124-126)tCg>tTg		engulfment and cell motility 2							163	155	158					20																	45022235		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45022235G>A	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.125C>T	20.37:g.45022235G>A	ENSP00000290246:p.Ser42Leu					ELMO2_ENST00000352077.2_Missense_Mutation_p.S42L|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.S42L|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.S42L|ELMO2_ENST00000488853.1_5'UTR	p.S42L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN			5	319	-		Myeloproliferative disorder(115;0.0122)	42					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.125C>T	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154087	0.57259	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.24908	2.43;2.43;2.43;2.43;1.83	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	M	0.71581	2.175	0.80722	D	1	P;P	0.42757	0.667;0.789	B;B	0.32928	0.107;0.155	T	0.36553	-0.9743	10	0.72032	D	0.01	-9.6865	16.5031	0.84262	0.0:0.0:1.0:0.0	.	42;42	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	L	42	ENSP00000290246:S42L;ENSP00000379673:S42L;ENSP00000396519:S42L;ENSP00000326172:S42L;ENSP00000416181:S42L	ENSP00000290246:S42L	S	-	2	0	ELMO2	44455642	1.000000	0.71417	0.950000	0.38849	0.916000	0.54674	5.952000	0.70282	2.375000	0.81037	0.491000	0.48974	TCG		0.453	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		162	722	0	0	0	1	0	162	722					A	45022235	G	A	45022235	3	1	79	1	0	0	0	0	1	0	0	0	5084	1059	37	1	2109	1	ELMO2	20	45022235	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	176766	45022235	18003285	20294	30611											
ZNF334	55713	broad.mit.edu	37	chr20	45131661	45131661	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctttctgtaatcagtgttTtgttgctgaagaatacagtt	8	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45131661T>G	ENST00000347606.4	-	5	499	c.317A>C	c.(316-318)aAa>aCa	p.K106T	ZNF334_ENST00000457685.2_Missense_Mutation_p.K68T|ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCAGTGTTTTGTTGCTGAA	0.353																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(202-204)aAa>aCa		zinc finger protein 334							104	87	93					20																	45131661		2203	4299	6502	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45131661T>G	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"Zinc fingers, C2H2-type", "-"	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.317A>C	20.37:g.45131661T>G	ENSP00000255129:p.Lys106Thr					ZNF334_ENST00000593880.1_Missense_Mutation_p.K129T|ZNF334_ENST00000347606.4_Missense_Mutation_p.K106T	p.K68T			Q9HCZ1	ZN334_HUMAN			6	1526	-		Myeloproliferative disorder(115;0.0122)	106			KRAB.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.203A>C	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.178949	0.38511	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.10288	3.12;2.89	3.26	-2.47	0.06442	.	.	.	.	.	T	0.09113	0.0225	L	0.52905	1.665	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	0.34477	-0.9827	9	0.35671	T	0.21	.	4.577	0.12238	0.0:0.309:0.163:0.528	.	68;106;129	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	T	68;106	ENSP00000402582:K68T;ENSP00000255129:K106T	ENSP00000255129:K106T	K	-	2	0	ZNF334	44565068	0.001000	0.12720	0.000000	0.03702	0.780000	0.44128	-0.017000	0.12590	-0.707000	0.05022	0.482000	0.46254	AAA		0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			38	170	0	0	0	1	0	38	170					G	45131661	T	G	45131661	3	3	79	1	0	0	0	0	1	0	0	0	17904	1841	64	4	1729	4	ZNF334	20	45131661	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	109426	45131661	17893859	20295	30612											
SLC13A3	64849	broad.mit.edu	37	chr20	45188796	45188796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattcatagccaaactgagCagcaggacacccatcaggtt	9	11	2	1	rs141947019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45188796C>T	ENST00000279027.4	-	13	1692	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000495082.1_Silent_p.L511L|SLC13A3_ENST00000290317.5_Silent_p.L511L	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	558					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)	CCAAACTGAGCAGCAGGACAC	0.557																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1672-1674)ctG>ctA		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						169	143	152					20																	45188796		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45188796C>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1674G>A	20.37:g.45188796C>T						SLC13A3_ENST00000472148.1_Silent_p.L476L|SLC13A3_ENST00000396360.1_Silent_p.L476L|SLC13A3_ENST00000435032.1_Silent_p.L143L|SLC13A3_ENST00000413164.2_Silent_p.L508L|SLC13A3_ENST00000290317.5_Silent_p.L511L|SLC13A3_ENST00000495082.1_Silent_p.L511L	p.L558L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			13	1692	-		Myeloproliferative disorder(115;0.0122)	558					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1674G>A	CCDS13400.1																																																																																				0.557	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			96	549	0	0	0	1	0	96	549					T	45188796	C	T	45188796	2	4	79	1	0	0	0	0	0	0	0	1	14443	697	25	2		2	SLC13A3	20	45188796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57135	45188796	17836724	20296	30613											
SLC13A3	64849	broad.mit.edu	37	chr20	45192140	45192140	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaaggcaaaggagcagccGactgtgcccggaatcatcag	13	10	2	1	rs560905872		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45192140G>A	ENST00000279027.4	-	12	1563	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000495082.1_Silent_p.V468V|SLC13A3_ENST00000290317.5_Silent_p.V468V	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	515					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)	AGGAGCAGCCGACTGTGCCCG	0.612																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1543-1545)gtC>gtT		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						48	42	44					20																	45192140		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45192140G>A	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.1545C>T	20.37:g.45192140G>A						SLC13A3_ENST00000472148.1_Silent_p.V433V|SLC13A3_ENST00000396360.1_Silent_p.V433V|SLC13A3_ENST00000435032.1_Silent_p.V100V|SLC13A3_ENST00000413164.2_Silent_p.V465V|SLC13A3_ENST00000290317.5_Silent_p.V468V|SLC13A3_ENST00000495082.1_Silent_p.V468V	p.V515V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			12	1563	-		Myeloproliferative disorder(115;0.0122)	515					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1545C>T	CCDS13400.1																																																																																				0.612	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			35	136	0	0	0	1	0	35	136					A	45192140	G	A	45192140	2	1	79	1	0	0	0	0	0	0	0	1	14443	1045	37	1		1	SLC13A3	20	45192140	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3344	45192140	17833380	20297	30614											
SLC13A3	64849	broad.mit.edu	37	chr20	45217805	45217805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcccccacatacttgatgGgccccaggttctggtattct	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45217805G>T	ENST00000279027.4	-	7	1028	c.1010C>A	c.(1009-1011)cCc>cAc	p.P337H	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000464518.1_5'Flank|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H	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	337					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)	ATACTTGATGGGCCCCAGGTT	0.527																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1009-1011)cCc>cAc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						95	99	97					20																	45217805		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45217805G>T	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1010C>A	20.37:g.45217805G>T	ENSP00000279027:p.Pro337His					SLC13A3_ENST00000472148.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P290H|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P287H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P290H|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P287H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P290H	p.P337H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			7	1028	-		Myeloproliferative disorder(115;0.0122)	337					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1010C>A	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566279	0.27915	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	T;T;T;T;T;T;T;T;T	0.13307	3.59;3.59;3.59;3.59;3.59;3.59;3.59;2.62;2.6	5.84	4.88	0.63580	.	0.091159	0.85682	N	0.000000	T	0.28566	0.0707	M	0.86502	2.82	0.80722	D	1	B;B;B;B	0.27351	0.014;0.006;0.122;0.176	B;B;B;B	0.35413	0.119;0.028;0.125;0.202	T	0.11842	-1.0571	10	0.87932	D	0	-30.0427	14.7177	0.69284	0.0:0.0:0.855:0.145	.	287;290;290;337	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	H	290;290;337;290;287;290;290;250;287	ENSP00000290317:P290H;ENSP00000379648:P290H;ENSP00000279027:P337H;ENSP00000420177:P290H;ENSP00000415852:P287H;ENSP00000419621:P290H;ENSP00000417784:P290H;ENSP00000395095:P250H;ENSP00000361193:P287H	ENSP00000279027:P337H	P	-	2	0	SLC13A3	44651212	1.000000	0.71417	0.946000	0.38457	0.189000	0.23516	5.637000	0.67854	1.457000	0.47850	0.650000	0.86243	CCC		0.527	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			11	502	1	0	3.86212e-05	1	3.93988e-05	11	502					T	45217805	G	T	45217805	3	4	79	1	0	0	0	0	1	0	0	0	14443	1232	43	3	826	3	SLC13A3	20	45217805	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25665	45217805	17807715	20298	30615											
SLC2A10	81031	broad.mit.edu	37	chr20	45353838	45353838	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctggtgggcagcctgCtcctgggggctctcctcgcc	14	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45353838C>T	ENST00000359271.2	+	2	413	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	55					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGCAGCCTGCTCCTGGGGGC	0.592																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(163-165)Ctc>Ttc		solute carrier family 2 (facilitated glucose transporter), member 10							72	68	69					20																	45353838		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45353838C>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.163C>T	20.37:g.45353838C>T	ENSP00000352216:p.Leu55Phe						p.L55F	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	413	+		Myeloproliferative disorder(115;0.0122)	55					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.163C>T	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618810	0.46736	.	.	ENSG00000197496	ENST00000359271	T	0.74737	-0.87	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	D	0.85831	0.5788	M	0.85197	2.74	0.47905	D	0.999547	D	0.89917	1.0	D	0.91635	0.999	D	0.87111	0.2185	10	0.59425	D	0.04	.	10.9873	0.47528	0.0:0.9123:0.0:0.0877	.	55	O95528	GTR10_HUMAN	F	55	ENSP00000352216:L55F	ENSP00000352216:L55F	L	+	1	0	SLC2A10	44787245	1.000000	0.71417	0.999000	0.59377	0.510000	0.34073	2.494000	0.45329	2.160000	0.67779	0.407000	0.27541	CTC		0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			52	236	0	0	0	1	0	52	236					T	45353838	C	T	45353838	3	4	79	1	0	0	0	0	1	0	0	0	14589	797	28	2	169	2	SLC2A10	20	45353838	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	136033	45353838	17671682	20299	30616											
SLC2A10	81031	broad.mit.edu	37	chr20	45354819	45354819	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agccccatcccagatctggaGacccctcagcccctcctcgg	8	20	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45354819G>A	ENST00000359271.2	+	2	1394	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	382					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAGATCTGGAGACCCCTCAGC	0.637																																						ENST00000359271.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1144-1146)Gac>Aac		solute carrier family 2 (facilitated glucose transporter), member 10							68	67	67					20																	45354819		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45354819G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1144G>A	20.37:g.45354819G>A	ENSP00000352216:p.Asp382Asn						p.D382N	NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN			2	1394	+		Myeloproliferative disorder(115;0.0122)	382					A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.1144G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	6.685	0.495024	0.12702	.	.	ENSG00000197496	ENST00000359271	D	0.81499	-1.5	5.75	-0.0688	0.13754	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.765990	0.01175	N	0.006943	T	0.65112	0.2660	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	10	0.16896	T	0.51	5.2667	11.1698	0.48565	0.4681:0.0:0.5319:0.0	.	382	O95528	GTR10_HUMAN	N	382	ENSP00000352216:D382N	ENSP00000352216:D382N	D	+	1	0	SLC2A10	44788226	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.638000	0.24674	0.099000	0.17552	-0.126000	0.14955	GAC		0.637	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			44	288	0	0	0	1	0	44	288					A	45354819	G	A	45354819	3	1	79	1	0	0	0	0	1	0	0	0	14589	942	33	2	1150	2	SLC2A10	20	45354819	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	981	45354819	17670701	20300	30617											
EYA2	2139	broad.mit.edu	37	chr20	45633697	45633697	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacagcttacccacctccagCacaagcctatggaatccctt	5	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45633697C>T	ENST00000327619.5	+	4	646	c.272C>T	c.(271-273)gCa>gTa	p.A91V	EYA2_ENST00000317304.6_Missense_Mutation_p.A91V|EYA2_ENST00000357410.3_Missense_Mutation_p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	91					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACCTCCAGCACAAGCCTAT	0.552																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(271-273)gCa>gTa		eyes absent homolog 2 (Drosophila)							81	73	76					20																	45633697		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45633697C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.272C>T	20.37:g.45633697C>T	ENSP00000333640:p.Ala91Val					EYA2_ENST00000357410.3_Missense_Mutation_p.A91V|EYA2_ENST00000317304.6_Missense_Mutation_p.A91V	p.A91V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			4	646	+		Myeloproliferative disorder(115;0.0241)	91					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.272C>T	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317035	0.81469	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91894	-2.93;-2.53;-2.85;-0.74	5.53	4.59	0.56863	.	0.130472	0.56097	D	0.000026	D	0.92234	0.7537	L	0.56769	1.78	0.46298	D	0.998979	D;P;P;P	0.54964	0.969;0.787;0.825;0.825	P;B;B;B	0.54210	0.745;0.23;0.313;0.294	D	0.91621	0.5311	10	0.62326	D	0.03	-18.7495	8.2618	0.31790	0.0:0.6532:0.2645:0.0823	.	91;91;91;91	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	V	91;91;91;91;44	ENSP00000333640:A91V;ENSP00000349986:A91V;ENSP00000321590:A91V;ENSP00000395427:A44V	ENSP00000321590:A91V	A	+	2	0	EYA2	45067104	1.000000	0.71417	0.924000	0.36721	0.960000	0.62799	3.109000	0.50345	1.344000	0.45657	0.561000	0.74099	GCA		0.552	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		46	267	0	0	0	1	0	46	267					T	45633697	C	T	45633697	3	4	79	1	0	0	0	0	1	0	0	0	5347	710	25	2	282	2	EYA2	20	45633697	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	278878	45633697	17391823	20301	30618											
EYA2	2139	broad.mit.edu	37	chr20	45725724	45725724	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcctctctttcatcacagCgtgtgttcgtgtgggacttg	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45725724C>T	ENST00000327619.5	+	9	1179	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	EYA2_ENST00000317304.6_Splice_Site_p.R269C|EYA2_ENST00000357410.3_Splice_Site_p.R269C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	269					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCATCACAGCGTGTGTTCGT	0.423																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.e9-1		eyes absent homolog 2 (Drosophila)							232	209	217					20																	45725724		2203	4300	6503	SO:0001630	splice_region_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45725724C>T		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.805-1C>T	20.37:g.45725724C>T						EYA2_ENST00000357410.3_Splice_Site_p.R269_splice|EYA2_ENST00000317304.6_Splice_Site_p.R269_splice	p.R269_splice	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			9	1179	+		Myeloproliferative disorder(115;0.0241)	269					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Splice_Site	SNP	ENST00000327619.5	37	c.804_splice	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403005	0.83230	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.67	5.67	0.87782	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.87617	2.895	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	0.92766	0.6228	9	.	.	.	-3.3947	19.773	0.96379	0.0:1.0:0.0:0.0	.	269;269;269;269	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	C	269;269;269;269;140	ENSP00000333640:R269C;ENSP00000349986:R269C;ENSP00000321590:R269C;ENSP00000395427:R140C	.	R	+	1	0	EYA2	45159131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.295000	0.65692	2.677000	0.91161	0.655000	0.94253	CGT		0.423	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	Missense_Mutation	12	695	0	0	0	1	0	12	695					T	45725724	C	T	45725724	5	4	79	1	0	0	0	0	0	0	1	0	5347	782	27	1	835	1	EYA2	20	45725724	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92027	45725724	17299796	20302	30619											
EYA2	2139	broad.mit.edu	37	chr20	45801458	45801458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggactggatgaggaagctgGccttccgctaccggcgggtg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45801458G>A	ENST00000327619.5	+	12	1515	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	EYA2_ENST00000317304.6_Missense_Mutation_p.A351T|EYA2_ENST00000357410.3_Missense_Mutation_p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	381				A -> S (in Ref. 7; AAB42065). {ECO:0000305}.	DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGGAAGCTGGCCTTCCGCTA	0.592																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1141-1143)Gcc>Acc		eyes absent homolog 2 (Drosophila)							96	79	85					20																	45801458		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45801458G>A		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.1141G>A	20.37:g.45801458G>A	ENSP00000333640:p.Ala381Thr					EYA2_ENST00000357410.3_Missense_Mutation_p.A381T|EYA2_ENST00000317304.6_Missense_Mutation_p.A351T	p.A381T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			12	1515	+		Myeloproliferative disorder(115;0.0241)	381	A -> S (in Ref. 7; AAB42065).				Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.1141G>A	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719770	0.96839	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304	D;D;D	0.82433	-1.61;-1.61;-1.61	5.59	5.59	0.84812	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.93141	0.7816	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.999;0.998;0.997	D	0.94016	0.7288	10	0.87932	D	0	-13.2396	19.5758	0.95444	0.0:0.0:1.0:0.0	.	381;351;381;381	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	381;381;351;351	ENSP00000333640:A381T;ENSP00000349986:A381T;ENSP00000321590:A351T	ENSP00000321590:A351T	A	+	1	0	EYA2	45234865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.755000	0.98912	2.632000	0.89209	0.655000	0.94253	GCC		0.592	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		84	411	0	0	0	1	0	84	411					A	45801458	G	A	45801458	3	1	79	1	0	0	0	0	1	0	0	0	5347	1203	42	2	1183	2	EYA2	20	45801458	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75734	45801458	17224062	20303	30620											
ZMYND8	23613	broad.mit.edu	37	chr20	45849995	45849995	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcttttctcagctgaCgtctccttctctttggaggc	8	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45849995C>T	ENST00000311275.7	-	20	3580	c.3327G>A	c.(3325-3327)acG>acA	p.T1109T	ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000446994.2_Silent_p.T1000T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000396281.4_Silent_p.T1109T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000536340.1_Silent_p.T1136T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1109					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTCAGCTGACGTCTCCTTCT	0.542																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(3325-3327)acG>acA		zinc finger, MYND-type containing 8							133	106	115					20																	45849995		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45849995C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3327G>A	20.37:g.45849995C>T						ZMYND8_ENST00000352431.2_Silent_p.T1083T|ZMYND8_ENST00000355972.4_Silent_p.T1109T|ZMYND8_ENST00000372023.3_Silent_p.T1031T|ZMYND8_ENST00000471951.2_Silent_p.T1129T|ZMYND8_ENST00000536340.1_Silent_p.T1136T|ZMYND8_ENST00000461685.1_Silent_p.T1083T|ZMYND8_ENST00000458360.2_Silent_p.T977T|ZMYND8_ENST00000396281.4_Silent_p.T1109T|ZMYND8_ENST00000540497.1_Silent_p.T1057T|ZMYND8_ENST00000262975.4_Silent_p.T1063T|ZMYND8_ENST00000360911.3_Silent_p.T1058T|ZMYND8_ENST00000446994.2_Silent_p.T1000T	p.T1109T			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		20	3580	-			1109					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.3327G>A		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214812	0.01555	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.08576	-1.0715	4	.	.	.	-5.7982	1.1673	0.01818	0.1808:0.2182:0.1965:0.4045	.	.	.	.	I	991	.	.	V	-	1	0	ZMYND8	45283402	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.175000	0.00571	-2.813000	0.00347	-2.259000	0.00280	GTC		0.542	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		67	301	0	0	0	1	0	67	301					T	45849995	C	T	45849995	2	4	79	1	0	0	0	0	0	0	0	1	17764	523	19	1		1	ZMYND8	20	45849995	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48537	45849995	17175525	20304	30621											
ZMYND8	23613	broad.mit.edu	37	chr20	45856021	45856021	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatctcgatcctcagcctgcGaatctggaagagggagagtg	13	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45856021G>A	ENST00000311275.7	-	18	3134	c.2881C>T	c.(2881-2883)Cgc>Tgc	p.R961C	ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	961					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCAGCCTGCGAATCTGGAAG	0.537																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2881-2883)Cgc>Tgc		zinc finger, MYND-type containing 8							133	115	121					20																	45856021		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45856021G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2881C>T	20.37:g.45856021G>A	ENSP00000312237:p.Arg961Cys					ZMYND8_ENST00000352431.2_Missense_Mutation_p.R935C|ZMYND8_ENST00000355972.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.R883C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.R981C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.R988C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.R935C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.R829C|ZMYND8_ENST00000396281.4_Missense_Mutation_p.R961C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.R909C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.R915C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.R910C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.R852C	p.R961C			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		18	3134	-			961					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2881C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.80|15.80	2.940096|2.940096	0.52972|0.52972	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75154|.	0.49;0.49;0.49;-0.91;-0.91;0.49;0.49;0.49;0.49;0.49;0.49;0.36;0.49|.	5.53|5.53	3.6|3.6	0.41247|0.41247	.|.	0.120930|.	0.56097|.	N|.	0.000026|.	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.74258|0.74258	2.255|2.255	0.47123|0.47123	D|D	0.999324|0.999324	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.022;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0|.	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.003;0.999;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.991;0.994;0.997;0.999|.	T|T	0.69859|0.69859	-0.5031|-0.5031	10|5	0.66056|.	D|.	0.02|.	-6.074|-6.074	11.9774|11.9774	0.53100|0.53100	0.1399:0.0:0.8601:0.0|0.1399:0.0:0.8601:0.0	.|.	829;988;883;890;981;915;910;935;935;961;852;910;909;854;863;961|.	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	C|L	910;961;829;916;982;935;961;988;961;852;935;883;909|842	ENSP00000354166:R910C;ENSP00000312237:R961C;ENSP00000392964:R829C;ENSP00000262975:R916C;ENSP00000420095:R982C;ENSP00000335537:R935C;ENSP00000379577:R961C;ENSP00000439800:R988C;ENSP00000348246:R961C;ENSP00000396725:R852C;ENSP00000418210:R935C;ENSP00000361093:R883C;ENSP00000443086:R909C|.	ENSP00000262975:R916C|.	R|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45289428|45289428	1.000000|1.000000	0.71417|0.71417	0.658000|0.658000	0.29665|0.29665	0.698000|0.698000	0.40448|0.40448	3.652000|3.652000	0.54439|0.54439	0.714000|0.714000	0.32081|0.32081	-0.237000|-0.237000	0.12165|0.12165	CGC|TCG		0.537	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		60	331	0	0	0	1	0	60	331					A	45856021	G	A	45856021	3	1	79	1	0	0	0	0	1	0	0	0	17764	1058	37	1	787	1	ZMYND8	20	45856021	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6026	45856021	17169499	20305	30622											
ZMYND8	23613	broad.mit.edu	37	chr20	45874915	45874915	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttttcccttcagtttatcCtttatggggtgaggtgaagg	11	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45874915C>A	ENST00000311275.7	-	14	2314	c.2061G>T	c.(2059-2061)aaG>aaT	p.K687N	ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	687					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.K707N(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCAGTTTATCCTTTATGGGGT	0.507																																						ENST00000311275.7																			1	Substitution - Missense(1)	p.K707N(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(2059-2061)aaG>aaT		zinc finger, MYND-type containing 8							201	183	189					20																	45874915		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45874915C>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2061G>T	20.37:g.45874915C>A	ENSP00000312237:p.Lys687Asn					ZMYND8_ENST00000352431.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000372023.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K707N|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K714N|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K707N|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K682N|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K635N|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K687N|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K682N|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K624N	p.K687N			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2314	-			687					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.2061G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.84|13.84	2.358130|2.358130	0.41801|0.41801	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56275	.|0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.91|5.91	2.53|2.53	0.30540|0.30540	.|.	.|0.227351	.|0.44097	.|D	.|0.000491	.|T	.|0.54598	.|0.1868	M|M	0.69823|0.69823	2.125|2.125	0.40769|0.40769	D|D	0.98307|0.98307	.|P;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	.|0.47302	.|0.893;0.609;0.159;0.078;0.134;0.276;0.38;0.127;0.21;0.127;0.127;0.078;0.078;0.078;0.078;0.277;0.06;0.159	.|B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B	.|0.46172	.|0.276;0.258;0.131;0.091;0.103;0.199;0.506;0.258;0.208;0.258;0.258;0.131;0.131;0.131;0.131;0.109;0.047;0.131	.|T	.|0.57106	.|-0.7868	.|10	.|0.34782	.|T	.|0.22	-17.7768|-17.7768	11.8262|11.8262	0.52269|0.52269	0.0:0.7249:0.0:0.2751|0.0:0.7249:0.0:0.2751	.|.	.|682;714;682;682;662;681;707;687;682;707;707;687;624;682;635;707;635;687	.|B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.|.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	X|N	615|682;687;682;688;708;707;687;714;687;624;707;682;635	.|ENSP00000354166:K682N;ENSP00000312237:K687N;ENSP00000392964:K682N;ENSP00000335537:K707N;ENSP00000379577:K687N;ENSP00000439800:K714N;ENSP00000348246:K687N;ENSP00000396725:K624N;ENSP00000418210:K707N;ENSP00000361093:K682N;ENSP00000443086:K635N	.|ENSP00000262975:K688N	G|K	-|-	1|3	0|2	ZMYND8|ZMYND8	45308322|45308322	0.994000|0.994000	0.37717|0.37717	0.993000|0.993000	0.49108|0.49108	0.888000|0.888000	0.51559|0.51559	0.368000|0.368000	0.20399|0.20399	0.842000|0.842000	0.35045|0.35045	-0.137000|-0.137000	0.14449|0.14449	GGA|AAG		0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		68	713	1	0	1.02487e-32	1	1.21166e-32	68	713					A	45874915	C	A	45874915	3	1	79	1	0	0	0	0	1	0	0	0	17764	680	24	3	1485	3	ZMYND8	20	45874915	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18894	45874915	17150605	20306	30623											
NCOA3	8202	broad.mit.edu	37	chr20	46252654	46252654	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttctacgccttttcccttaGtcttacctgcagtggtgaaa	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	ENST00000371998.3	+	4	274		c.e4-1		NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000372004.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						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						TTTTCCCTTAGTCTTACCTGC	0.393																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.e4-1		nuclear receptor coactivator 3							60	63	62					20																	46252654		2203	4300	6503	SO:0001630	splice_region_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46252654G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.84-1G>T	20.37:g.46252654G>T						NCOA3_ENST00000371997.3_Splice_Site|NCOA3_ENST00000371998.3_Splice_Site|NCOA3_ENST00000341724.6_Splice_Site		NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			4	299	+								A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	37		CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320843	0.23994	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA3	45686061	1.000000	0.71417	0.992000	0.48379	0.138000	0.21146	7.235000	0.78143	2.937000	0.99478	0.650000	0.86243	.		0.393	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	Intron	30	175	1	0	7.68411e-24	1	8.75532e-24	30	175					T	46252654	G	T	46252654	5	4	79	1	0	0	0	0	0	0	1	0	10272	1043	36	3	89	3	NCOA3	20	46252654	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	377739	46252654	16772866	20307	30624											
NCOA3	8202	broad.mit.edu	37	chr20	46262300	46262300	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgaggcctggctttgaagAtataatccgaaggtgtattc	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46262300A>T	ENST00000371998.3	+	9	1075	c.884A>T	c.(883-885)gAt>gTt	p.D295V	NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000372004.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	295					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						GGCTTTGAAGATATAATCCGA	0.368																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(883-885)gAt>gTt		nuclear receptor coactivator 3							94	99	97					20																	46262300		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262300A>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.884A>T	20.37:g.46262300A>T	ENSP00000361066:p.Asp295Val					NCOA3_ENST00000371997.3_Missense_Mutation_p.D295V|NCOA3_ENST00000371998.3_Missense_Mutation_p.D295V|NCOA3_ENST00000341724.6_Missense_Mutation_p.D295V	p.D295V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			9	1100	+			295					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.884A>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522593	0.85600	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.997;0.997;0.998;0.997	D;D;D;D;D;D	0.97110	0.961;1.0;0.943;0.943;0.974;0.943	T	0.58891	-0.7556	10	0.87932	D	0	-28.1386	15.4236	0.75035	1.0:0.0:0.0:0.0	.	295;295;299;295;295;295	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	V	295;295;295;295;295;61	ENSP00000342123:D295V;ENSP00000361073:D295V;ENSP00000361066:D295V;ENSP00000361065:D295V	ENSP00000345671:D295V	D	+	2	0	NCOA3	45695707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.046000	0.60703	0.533000	0.62120	GAT		0.368	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		102	367	0	0	0	1	0	102	367					T	46262300	A	T	46262300	3	4	79	1	0	0	0	0	1	0	0	0	10272	333	12	5	910	5	NCOA3	20	46262300	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9646	46262300	16763220	20308	30625											
NCOA3	8202	broad.mit.edu	37	chr20	46264680	46264680	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaatactgggaaccacaGcttttccagcagctctctca	8	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264680G>T	ENST00000371998.3	+	12	1741	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000372004.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	517	Ser-rich.				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						GGGAACCACAGCTTTTCCAGC	0.453																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1549-1551)aGc>aTc		nuclear receptor coactivator 3							64	64	64					20																	46264680		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264680G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1550G>T	20.37:g.46264680G>T	ENSP00000361066:p.Ser517Ile					NCOA3_ENST00000371997.3_Missense_Mutation_p.S527I|NCOA3_ENST00000371998.3_Missense_Mutation_p.S517I|NCOA3_ENST00000341724.6_Missense_Mutation_p.S527I	p.S517I	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			12	1766	+			517			Ser-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.1550G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252255	0.39797	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.72	2.76	0.32466	.	0.239134	0.42821	D	0.000652	T	0.23014	0.0556	M	0.70275	2.135	0.37709	D	0.924494	P;P;P;B;P;P	0.40660	0.554;0.677;0.554;0.373;0.682;0.726	B;B;B;B;P;B	0.44860	0.273;0.299;0.273;0.273;0.462;0.342	T	0.05632	-1.0873	10	0.72032	D	0.01	-3.665	7.0434	0.25033	0.2174:0.1333:0.6494:0.0	.	517;527;521;517;517;517	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	I	517;527;517;517;527	ENSP00000342123:S527I;ENSP00000361073:S517I;ENSP00000361066:S517I;ENSP00000361065:S527I	ENSP00000345671:S517I	S	+	2	0	NCOA3	45698087	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.198000	0.32223	0.363000	0.24346	-0.150000	0.13652	AGC		0.453	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		74	354	1	0	2.9056e-39	1	3.51233e-39	74	354					T	46264680	G	T	46264680	3	4	79	1	0	0	0	0	1	0	0	0	10272	971	34	3	1618	3	NCOA3	20	46264680	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2380	46264680	16760840	20309	30626											
NCOA3	8202	broad.mit.edu	37	chr20	46264735	46264735	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgaaggtgtggggacTtcccttttatctactctgtc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264735T>G	ENST00000371998.3	+	12	1796	c.1605T>G	c.(1603-1605)acT>acG	p.T535T	NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000372004.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	535	Ser-rich.				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						GTGTGGGGACTTCCCTTTTAT	0.478																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1603-1605)acT>acG		nuclear receptor coactivator 3							86	84	84					20																	46264735		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46264735T>G	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1605T>G	20.37:g.46264735T>G						NCOA3_ENST00000371997.3_Silent_p.T545T|NCOA3_ENST00000371998.3_Silent_p.T535T|NCOA3_ENST00000341724.6_Silent_p.T545T	p.T535T	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			12	1821	+			535			Ser-rich.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.1605T>G	CCDS13407.1																																																																																				0.478	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		95	416	0	0	0	1	0	95	416					G	46264735	T	G	46264735	2	3	79	1	0	0	0	0	0	0	0	1	10272	1596	56	4		4	NCOA3	20	46264735	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	55	46264735	16760785	20310	30627											
NCOA3	8202	broad.mit.edu	37	chr20	46277853	46277853	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccccaggtgagctcccaGgtgaggatgataagcctctc	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	ENST00000371998.3	+	19	3842	c.3651G>A	c.(3649-3651)caG>caA	p.Q1217Q	NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000341724.6_Intron			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1217	Acetyltransferase.				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						tgagctcccaggtgaggatga	0.507																																						ENST00000371998.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.e19+1		nuclear receptor coactivator 3							63	55	57					20																	46277853		2203	4300	6503	SO:0001630	splice_region_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46277853G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3651+1G>A	20.37:g.46277853G>A						NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_Intron	p.Q1217_splice			Q9Y6Q9	NCOA3_HUMAN			19	3842	+			1217			Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Splice_Site	SNP	ENST00000371998.3	37	c.3651_splice	CCDS13407.1																																																																																				0.507	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	Silent	32	176	0	0	0	1	0	32	176					A	46277853	G	A	46277853	5	1	79	1	0	0	0	0	0	0	1	0	10272	1014	35	2	3747	2	NCOA3	20	46277853	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13118	46277853	16747667	20311	30628											
SULF2	55959	broad.mit.edu	37	chr20	46365517	46365517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgcctgccaggagggCgaggagcagttctcattgtt	15	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46365517C>T	ENST00000359930.4	-	3	1196	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000484875.1_Silent_p.S115S|SULF2_ENST00000361612.4_Silent_p.S115S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	115					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						GCCAGGAGGGCGAGGAGCAGT	0.607																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(343-345)tcG>tcA		sulfatase 2							232	166	188					20																	46365517		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46365517C>T	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.345G>A	20.37:g.46365517C>T						SULF2_ENST00000484875.1_Silent_p.S115S|SULF2_ENST00000467815.1_Silent_p.S115S|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Silent_p.S115S	p.S115S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			3	1196	-			115					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.345G>A	CCDS13408.1																																																																																				0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		44	187	0	0	0	1	0	44	187					T	46365517	C	T	46365517	2	4	79	1	0	0	0	0	0	0	0	1	15423	755	27	1		1	SULF2	20	46365517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87664	46365517	16660003	20312	30629											
PREX1	57580	broad.mit.edu	37	chr20	47269916	47269916	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	taccagggcctcttcgcgccGactccggaatgcctggaagt	12	14	1	0	rs371398821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47269916G>A	ENST00000371941.3	-	20	2351	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PREX1_ENST00000396220.1_Missense_Mutation_p.R777W	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	777					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)			TCTTCGCGCCGACTCCGGAAT	0.582																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2329-2331)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84	86	85		2329	3	0.2	20		85	0,8600		0,0,4300	no	missense	PREX1	NM_020820.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	777/1660	47269916	1,13005	2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47269916G>A	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.2329C>T	20.37:g.47269916G>A	ENSP00000361009:p.Arg777Trp					PREX1_ENST00000371941.3_Missense_Mutation_p.R777W	p.R777W			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		20	2351	-			777					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2329C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709441	0.48517	2.27E-4	0.0	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38560	1.13;1.13	5.12	2.95	0.34219	PDZ/DHR/GLGF (1);	1.252740	0.06178	U	0.678964	T	0.49609	0.1567	L	0.42245	1.32	0.22142	N	0.999336	P;D	0.63046	0.918;0.992	B;P	0.52710	0.368;0.707	T	0.46735	-0.9170	10	0.87932	D	0	.	11.6856	0.51483	0.0:0.0:0.6956:0.3044	.	777;74	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	W	777	ENSP00000361009:R777W;ENSP00000379522:R777W	ENSP00000361009:R777W	R	-	1	2	PREX1	46703323	0.578000	0.26717	0.188000	0.23233	0.355000	0.29361	1.778000	0.38614	2.386000	0.81285	0.462000	0.41574	CGG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		129	617	0	0	0	1	0	129	617					A	47269916	G	A	47269916	3	1	79	1	0	0	0	0	1	0	0	0	12523	1057	37	1	2734	1	PREX1	20	47269916	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	904399	47269916	15755604	20313	30630											
PREX1	57580	broad.mit.edu	37	chr20	47274755	47274755	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagccatagtcctcctcCtggggcaggatctgggggcc	13	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47274755C>T	ENST00000371941.3	-	17	1915	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_ENST00000396220.1_Silent_p.Q631Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	631	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)			AGTCCTCCTCCTGGGGCAGGA	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1891-1893)caG>caA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							192	179	184					20																	47274755		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47274755C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1893G>A	20.37:g.47274755C>T			OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_ENST00000371941.3_Silent_p.Q631Q	p.Q631Q			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		17	1915	-			631			PDZ.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.1893G>A	CCDS13410.1																																																																																				0.672	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		350	1260	0	0	0	1	0	350	1260					T	47274755	C	T	47274755	2	4	79	1	0	0	0	0	0	0	0	1	12523	680	24	2		2	PREX1	20	47274755	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4839	47274755	15750765	20314	30631											
PREX1	57580	broad.mit.edu	37	chr20	47297832	47297832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agttgactccttcttccgtcTtgctgatttcaccaatttct	5	12	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47297832T>G	ENST00000371941.3	-	11	1398	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T	PREX1_ENST00000396220.1_Missense_Mutation_p.K459T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	459	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				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)			TTCTTCCGTCTTGCTGATTTC	0.542																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1375-1377)aAg>aCg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							242	215	224					20																	47297832		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47297832T>G	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.1376A>C	20.37:g.47297832T>G	ENSP00000361009:p.Lys459Thr					PREX1_ENST00000371941.3_Missense_Mutation_p.K459T	p.K459T			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		11	1398	-			459			DEP 1.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1376A>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	t	19.23	3.788204	0.70337	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.11604	2.76;2.76	4.41	4.41	0.53225	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.233910	0.28349	U	0.015671	T	0.06096	0.0158	N	0.02658	-0.545	0.58432	D	0.999997	P	0.39131	0.661	B	0.42593	0.392	T	0.52741	-0.8535	10	0.30854	T	0.27	.	13.7239	0.62745	0.0:0.0:0.0:1.0	.	459	Q8TCU6	PREX1_HUMAN	T	459	ENSP00000361009:K459T;ENSP00000379522:K459T	ENSP00000361009:K459T	K	-	2	0	PREX1	46731239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.960000	0.87893	1.636000	0.50526	0.468000	0.43344	AAG		0.542	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		212	1085	0	0	0	1	0	212	1085					G	47297832	T	G	47297832	3	3	79	1	0	0	0	0	1	0	0	0	12523	1609	56	4	3723	4	PREX1	20	47297832	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	23077	47297832	15727688	20315	30632											
PREX1	57580	broad.mit.edu	37	chr20	47324875	47324875	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttggtctcattgatgtTggagcaaacggtcttcatgg	12	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47324875T>C	ENST00000371941.3	-	6	728	c.706A>G	c.(706-708)Aac>Gac	p.N236D	PREX1_ENST00000396220.1_Missense_Mutation_p.N236D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	236	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)			TCATTGATGTTGGAGCAAACG	0.617																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(706-708)Aac>Gac		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							138	141	140					20																	47324875		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324875T>C	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.706A>G	20.37:g.47324875T>C	ENSP00000361009:p.Asn236Asp					PREX1_ENST00000371941.3_Missense_Mutation_p.N236D	p.N236D			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	728	-			236			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.706A>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	31	5.083529	0.94050	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.62788	-0.0;-0.0	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000016	T	0.73536	0.3599	L	0.48935	1.535	0.58432	D	0.999999	D	0.69078	0.997	D	0.74348	0.983	T	0.74685	-0.3582	10	0.52906	T	0.07	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	236	Q8TCU6	PREX1_HUMAN	D	236	ENSP00000361009:N236D;ENSP00000379522:N236D	ENSP00000361009:N236D	N	-	1	0	PREX1	46758282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.939000	0.70179	2.147000	0.66899	0.533000	0.62120	AAC		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		42	1135	0	0	0	1	0	42	1135					C	47324875	T	C	47324875	3	2	79	1	0	0	0	0	1	0	0	0	12523	1812	63	4	4413	4	PREX1	20	47324875	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	27043	47324875	15700645	20316	30633											
PREX1	57580	broad.mit.edu	37	chr20	47361598	47361598	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaagttcatgctgagaCtgcggctccgggtgtaaaca	11	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47361598C>A	ENST00000371941.3	-	3	400	c.378G>T	c.(376-378)caG>caT	p.Q126H	PREX1_ENST00000396220.1_Missense_Mutation_p.Q126H	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	126	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)			CATGCTGAGACTGCGGCTCCG	0.483																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(376-378)caG>caT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							135	139	137					20																	47361598		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47361598C>A	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.378G>T	20.37:g.47361598C>A	ENSP00000361009:p.Gln126His					PREX1_ENST00000371941.3_Missense_Mutation_p.Q126H	p.Q126H			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		3	400	-			126			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.378G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984385	0.18889	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63255	-0.03;-0.03	4.74	3.8	0.43715	Dbl homology (DH) domain (5);	0.000000	0.47093	U	0.000244	T	0.44180	0.1281	N	0.22421	0.69	0.50313	D	0.999863	B	0.14012	0.009	B	0.17979	0.02	T	0.29458	-1.0011	10	0.33141	T	0.24	.	7.7548	0.28917	0.0:0.7448:0.0:0.2552	.	126	Q8TCU6	PREX1_HUMAN	H	126	ENSP00000361009:Q126H;ENSP00000379522:Q126H	ENSP00000361009:Q126H	Q	-	3	2	PREX1	46795005	1.000000	0.71417	0.997000	0.53966	0.519000	0.34347	0.839000	0.27586	1.218000	0.43458	0.561000	0.74099	CAG		0.483	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		42	902	1	0	2.58029e-29	1	3.0132e-29	42	902					A	47361598	C	A	47361598	3	1	79	1	0	0	0	0	1	0	0	0	12523	564	20	3	4753	3	PREX1	20	47361598	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36723	47361598	15663922	20317	30634											
ARFGEF2	10564	broad.mit.edu	37	chr20	47582460	47582460	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagagttctaggtgaacTggagtgccaggaatgtgcta	15	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47582460T>C	ENST00000371917.4	+	8	959	c.959T>C	c.(958-960)cTg>cCg	p.L320P		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	320					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)			CTAGGTGAACTGGAGTGCCAG	0.468																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(958-960)cTg>cCg		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							141	123	129					20																	47582460		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47582460T>C	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.959T>C	20.37:g.47582460T>C	ENSP00000360985:p.Leu320Pro						p.L320P	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		8	959	+			320					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.959T>C	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415843	0.25552	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.23950	1.88	5.77	1.91	0.25777	Armadillo-type fold (1);	1.860230	0.02204	N	0.062554	T	0.19167	0.0460	N	0.19112	0.55	0.20821	N	0.999841	B	0.24533	0.105	B	0.20384	0.029	T	0.22173	-1.0224	10	0.30854	T	0.27	.	8.4988	0.33146	0.0:0.2371:0.0:0.7629	.	320	Q9Y6D5	BIG2_HUMAN	P	320	ENSP00000360985:L320P	ENSP00000360985:L320P	L	+	2	0	ARFGEF2	47015867	0.201000	0.23410	0.163000	0.22734	0.955000	0.61496	0.678000	0.25277	0.331000	0.23511	0.379000	0.24179	CTG		0.468	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		100	386	0	0	0	1	0	100	386					C	47582460	T	C	47582460	3	2	79	1	0	0	0	0	1	0	0	0	853	1580	55	4	989	4	ARFGEF2	20	47582460	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	220862	47582460	15443060	20318	30635											
ARFGEF2	10564	broad.mit.edu	37	chr20	47601357	47601357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatagcccaattcctgcacCaggaggagcgcctggattcc	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47601357C>T	ENST00000371917.4	+	15	2050	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	684	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				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)			ATTCCTGCACCAGGAGGAGCG	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(2050-2052)Cag>Tag		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							125	107	113					20																	47601357		2203	4300	6503	SO:0001587	stop_gained	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47601357C>T	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.2050C>T	20.37:g.47601357C>T	ENSP00000360985:p.Gln684*						p.Q684*	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		15	2050	+			684			SEC7.		Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	ENST00000371917.4	37	c.2050C>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	39	7.447046	0.98289	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	5.85	5.85	0.93711	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	684	.	ENSP00000360985:Q684X	Q	+	1	0	ARFGEF2	47034764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.920000	0.70017	2.770000	0.95276	0.563000	0.77884	CAG		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		121	443	0	0	0	1	0	121	443					T	47601357	C	T	47601357	4	4	79	1	0	0	0	0	0	1	0	0	853	595	21	2	2108	2	ARFGEF2	20	47601357	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18897	47601357	15424163	20319	30636											
ARFGEF2	10564	broad.mit.edu	37	chr20	47628603	47628603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccgcttctgtggcaaataCgtctctgagaggcctcgggt	12	11	2	1	rs142138231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47628603C>T	ENST00000371917.4	+	28	3900	c.3900C>T	c.(3898-3900)taC>taT	p.Y1300Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1300					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)			GTGGCAAATACGTCTCTGAGA	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(3898-3900)taC>taT		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)		C		1,4405	2.1+/-5.4	0,1,2202	111	104	107		3900	-5.1	0.9	20	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous	ARFGEF2	NM_006420.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1300/1786	47628603	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47628603C>T	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.3900C>T	20.37:g.47628603C>T							p.Y1300Y	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		28	3900	+			1300					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.3900C>T	CCDS13411.1																																																																																				0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		31	431	0	0	0	1	0	31	431					T	47628603	C	T	47628603	2	4	79	1	0	0	0	0	0	0	0	1	853	547	19	1		1	ARFGEF2	20	47628603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27246	47628603	15396917	20320	30637											
CSE1L	1434	broad.mit.edu	37	chr20	47691952	47691952	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcttctctggttatgttaaTtccatgctgcaggaatacgc	8	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47691952T>G	ENST00000262982.2	+	12	1353	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K|CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	410					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)			GTTATGTTAATTCCATGCTGC	0.428																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1228-1230)aaT>aaG		CSE1 chromosome segregation 1-like (yeast)							136	129	131					20																	47691952		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47691952T>G	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.1230T>G	20.37:g.47691952T>G	ENSP00000262982:p.Asn410Lys					CSE1L_ENST00000542325.1_Missense_Mutation_p.N193K|CSE1L_ENST00000396192.3_Missense_Mutation_p.N354K	p.N410K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		12	1353	+			410					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1230T>G	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	T	9.525	1.109234	0.20714	.	.	ENSG00000124207	ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.65916	-0.18;-0.18;-0.18	5.68	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.083086	0.85682	D	0.000000	T	0.42562	0.1208	L	0.31476	0.935	0.58432	D	0.99999	B;B;B;B;B	0.18968	0.002;0.002;0.016;0.032;0.006	B;B;B;B;B	0.16722	0.007;0.012;0.016;0.016;0.012	T	0.15321	-1.0441	10	0.07325	T	0.83	-24.4379	8.1045	0.30877	0.0:0.3166:0.0:0.6834	.	99;193;354;354;410	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	410;193;354	ENSP00000262982:N410K;ENSP00000446477:N193K;ENSP00000379495:N354K	ENSP00000262982:N410K	N	+	3	2	CSE1L	47125359	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.550000	0.45811	0.403000	0.25479	-0.366000	0.07423	AAT		0.428	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		105	400	0	0	0	1	0	105	400					G	47691952	T	G	47691952	3	3	79	1	0	0	0	0	1	0	0	0	3941	1490	52	4	1272	4	CSE1L	20	47691952	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	63349	47691952	15333568	20321	30638											
CSE1L	1434	broad.mit.edu	37	chr20	47700686	47700686	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctttactatgcgagggcctAacaatgccactctgtgagta	9	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47700686A>G	ENST00000262982.2	+	15	1729	c.1606A>G	c.(1606-1608)Aac>Gac	p.N536D	CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D|CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	536					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)			GCGAGGGCCTAACAATGCCAC	0.403																																						ENST00000262982.2																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1606-1608)Aac>Gac		CSE1 chromosome segregation 1-like (yeast)							117	111	114					20																	47700686		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47700686A>G	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.1606A>G	20.37:g.47700686A>G	ENSP00000262982:p.Asn536Asp					CSE1L_ENST00000542325.1_Missense_Mutation_p.N319D|CSE1L_ENST00000396192.3_Missense_Mutation_p.N480D	p.N536D	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		15	1729	+			536					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.1606A>G	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888602	0.33348	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.43688	0.94;0.94;0.94	5.61	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.131649	0.64402	D	0.000002	T	0.29389	0.0732	L	0.31065	0.9	0.47547	D	0.999453	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.08055	0.001;0.003;0.002;0.003	T	0.05716	-1.0868	10	0.13108	T	0.6	-10.0128	12.7828	0.57487	0.863:0.137:0.0:0.0	.	225;319;480;536	F5GX54;B4DUC5;F8W904;P55060	.;.;.;XPO2_HUMAN	D	134;536;319;480	ENSP00000262982:N536D;ENSP00000446477:N319D;ENSP00000379495:N480D	ENSP00000262982:N536D	N	+	1	0	CSE1L	47134093	1.000000	0.71417	0.837000	0.33122	0.834000	0.47266	6.955000	0.76007	0.929000	0.37192	0.482000	0.46254	AAC		0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		7	428	0	0	0	1	0	7	428					G	47700686	A	G	47700686	3	3	79	1	0	0	0	0	1	0	0	0	3941	362	13	4	1660	4	CSE1L	20	47700686	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8734	47700686	15324834	20322	30639											
STAU1	6780	broad.mit.edu	37	chr20	47734381	47734381	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgagaggtccatggggtAcgtggcctgaagagatgtta	16	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47734381A>G	ENST00000371856.2	-	11	1852	c.1442T>C	c.(1441-1443)gTa>gCa	p.V481A	STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371828.3_Missense_Mutation_p.V406A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	481					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCATGGGGTACGTGGCCTGA	0.542																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1216-1218)gTa>gCa		staufen double-stranded RNA binding protein 1							107	100	102					20																	47734381		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47734381A>G		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1442T>C	20.37:g.47734381A>G	ENSP00000360922:p.Val481Ala					STAU1_ENST00000340954.7_Missense_Mutation_p.V400A|STAU1_ENST00000371792.1_Missense_Mutation_p.V398A|STAU1_ENST00000360426.4_Missense_Mutation_p.V400A|STAU1_ENST00000371856.2_Missense_Mutation_p.V481A|STAU1_ENST00000371802.1_Missense_Mutation_p.V406A|STAU1_ENST00000347458.5_Missense_Mutation_p.V400A	p.V406A	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		11	1704	-			481					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1217T>C	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.485931	0.26686	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.62	1.67	0.24075	.	0.382698	0.28724	N	0.014355	T	0.16428	0.0395	N	0.19112	0.55	0.36619	D	0.875678	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.15809	-1.0424	10	0.17369	T	0.5	-1.9751	9.0908	0.36610	0.7594:0.0:0.2406:0.0	.	481;406	O95793;Q5JW29	STAU1_HUMAN;.	A	406;400;481;400;400;400;406;398	ENSP00000360893:V406A;ENSP00000345425:V400A;ENSP00000360922:V481A;ENSP00000353604:V400A;ENSP00000323443:V400A;ENSP00000360867:V406A;ENSP00000360857:V398A	ENSP00000345425:V400A	V	-	2	0	STAU1	47167788	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	1.920000	0.40025	0.276000	0.22118	0.528000	0.53228	GTA		0.542	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		69	304	0	0	0	1	0	69	304					G	47734381	A	G	47734381	3	3	79	1	0	0	0	0	1	0	0	0	15324	391	14	4	307	4	STAU1	20	47734381	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33695	47734381	15291139	20323	30640											
STAU1	6780	broad.mit.edu	37	chr20	47768165	47768165	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggatcctcaacgctTtggcagcagcatcgtgtttc	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47768165T>G	ENST00000371856.2	-	5	874	c.464A>C	c.(463-465)aAa>aCa	p.K155T	STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371828.3_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	155	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCTCAACGCTTTGGCAGCAGC	0.537																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(220-222)aAa>aCa		staufen double-stranded RNA binding protein 1							146	128	134					20																	47768165		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47768165T>G		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.464A>C	20.37:g.47768165T>G	ENSP00000360922:p.Lys155Thr					STAU1_ENST00000340954.7_Missense_Mutation_p.K74T|STAU1_ENST00000371792.1_Missense_Mutation_p.K74T|STAU1_ENST00000360426.4_Missense_Mutation_p.K74T|STAU1_ENST00000371856.2_Missense_Mutation_p.K155T|STAU1_ENST00000371802.1_Missense_Mutation_p.K74T|STAU1_ENST00000347458.5_Missense_Mutation_p.K74T	p.K74T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		5	708	-			155			DRBM 1.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.221A>C	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039199	0.55003	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;T;T;T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.63	3.37	0.38596	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.096026	0.64402	D	0.000001	D	0.85204	0.5643	M	0.77313	2.365	0.58432	D	0.999998	D;D	0.56521	0.976;0.966	D;D	0.64410	0.925;0.923	D	0.84327	0.0519	10	0.87932	D	0	-7.0256	9.2526	0.37564	0.0:0.1472:0.0:0.8528	.	155;74	O95793;Q5JW29	STAU1_HUMAN;.	T	74;74;155;74;74;74;74;74;74;114	ENSP00000360893:K74T;ENSP00000345425:K74T;ENSP00000360922:K155T;ENSP00000353604:K74T;ENSP00000323443:K74T;ENSP00000360867:K74T;ENSP00000360857:K74T;ENSP00000416779:K74T;ENSP00000398785:K114T	ENSP00000345425:K74T	K	-	2	0	STAU1	47201572	1.000000	0.71417	0.218000	0.23776	0.234000	0.25298	3.912000	0.56386	0.433000	0.26313	0.533000	0.62120	AAA		0.537	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		61	310	0	0	0	1	0	61	310					G	47768165	T	G	47768165	3	3	79	1	0	0	0	0	1	0	0	0	15324	1841	64	4	1327	4	STAU1	20	47768165	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33784	47768165	15257355	20324	30641											
DDX27	55661	broad.mit.edu	37	chr20	47836014	47836014	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacctcggcttaatcggaaCcataggcgaggatgacgagg	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47836014C>A	ENST00000371764.4	+	1	131	c.122C>A	c.(121-123)aCc>aAc	p.T41N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	41						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)			TTAATCGGAACCATAGGCGAG	0.602																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(121-123)aCc>aAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							68	62	64					20																	47836014		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47836014C>A	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.122C>A	20.37:g.47836014C>A	ENSP00000360828:p.Thr41Asn					DDX27_ENST00000484427.1_3'UTR	p.T41N	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		1	131	+			41					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.122C>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076268	0.76415	.	.	ENSG00000124228	ENST00000535160;ENST00000371764	D	0.86297	-2.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.91250	0.7242	L	0.54323	1.7	0.58432	D	0.999994	D	0.76494	0.999	D	0.63488	0.915	D	0.91424	0.5161	10	0.87932	D	0	-20.4532	16.1635	0.81734	0.0:1.0:0.0:0.0	.	41	Q96GQ7	DDX27_HUMAN	N	41	ENSP00000360828:T41N	ENSP00000360828:T41N	T	+	2	0	DDX27	47269421	1.000000	0.71417	0.975000	0.42487	0.197000	0.23852	5.007000	0.63984	2.894000	0.99253	0.655000	0.94253	ACC		0.602	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			30	234	1	0	2.81731e-10	1	2.98404e-10	30	234					A	47836014	C	A	47836014	3	1	79	1	0	0	0	0	1	0	0	0	4365	507	18	3	124	3	DDX27	20	47836014	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67849	47836014	15189506	20325	30642											
ZNFX1	57169	broad.mit.edu	37	chr20	47865209	47865209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacgcccttcgaagcagCtgtggcaggagcctgggcaa	15	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47865209C>T	ENST00000396105.1	-	14	4598	c.4352G>A	c.(4351-4353)aGc>aAc	p.S1451N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1451							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)			TTCGAAGCAGCTGTGGCAGGA	0.567																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4351-4353)aGc>aAc		zinc finger, NFX1-type containing 1							45	44	44					20																	47865209		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47865209C>T	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.4352G>A	20.37:g.47865209C>T	ENSP00000379412:p.Ser1451Asn					ZNFX1_ENST00000371752.1_Missense_Mutation_p.S1451N|ZNFX1_ENST00000371754.4_Intron	p.S1451N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	4598	-			1451					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4352G>A	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	9.303	1.053567	0.19907	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.56776	0.44;0.44	6.07	3.83	0.44106	.	0.355484	0.33235	N	0.005129	T	0.39358	0.1075	L	0.43757	1.38	0.23886	N	0.99656	B	0.02656	0.0	B	0.06405	0.002	T	0.15549	-1.0433	10	0.25106	T	0.35	-19.6266	7.0874	0.25266	0.0:0.6048:0.2292:0.166	.	1451	Q9P2E3	ZNFX1_HUMAN	N	1451	ENSP00000360817:S1451N;ENSP00000379412:S1451N	ENSP00000360817:S1451N	S	-	2	0	ZNFX1	47298616	0.006000	0.16342	1.000000	0.80357	0.907000	0.53573	0.683000	0.25349	1.578000	0.49821	0.655000	0.94253	AGC		0.567	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		48	202	0	0	0	1	0	48	202					T	47865209	C	T	47865209	3	4	79	1	0	0	0	0	1	0	0	0	18258	797	28	2	1408	2	ZNFX1	20	47865209	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29195	47865209	15160311	20326	30643											
KCNB1	3745	broad.mit.edu	37	chr20	47991499	47991499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagggcaatggtggagaggaCgatgaacatgatggaaatta	15	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47991499C>T	ENST00000371741.4	-	2	764	c.598G>A	c.(598-600)Gtc>Atc	p.V200I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	200					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)	GTGGAGAGGACGATGAACATG	0.522																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(598-600)Gtc>Atc		potassium voltage-gated channel, Shab-related subfamily, member 1							114	94	100					20																	47991499		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991499C>T	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.598G>A	20.37:g.47991499C>T	ENSP00000360806:p.Val200Ile						p.V200I	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	764	-			200					Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.598G>A	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125325	0.37533	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.97378	-4.36	5.87	5.87	0.94306	.	0.123534	0.53938	N	0.000050	D	0.93216	0.7839	N	0.26042	0.785	0.58432	D	0.999997	P	0.40266	0.71	B	0.32211	0.142	D	0.92691	0.6166	10	0.35671	T	0.21	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	200	Q14721	KCNB1_HUMAN	I	200;155	ENSP00000360806:V200I	ENSP00000360806:V200I	V	-	1	0	KCNB1	47424906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.945000	0.63568	2.785000	0.95823	0.655000	0.94253	GTC		0.522	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		39	158	0	0	0	1	0	39	158					T	47991499	C	T	47991499	3	4	79	1	0	0	0	0	1	0	0	0	8042	536	19	1	1982	1	KCNB1	20	47991499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	126290	47991499	15034021	20327	30644											
PTGIS	5740	broad.mit.edu	37	chr20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaagtcgagcctggtgCgaggctcccacaccaccgcg	13	15	0	0	rs144185728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	91					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)	GAGCCTGGTGCGAGGCTCCCA	0.557																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(271-273)cGc>cAc		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)	C	HIS/ARG	0,4406		0,0,2203	123	110	114		272	3.1	0.6	20	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PTGIS	NM_000961.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	91/501	48164483	2,13004	2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48164483C>T		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.272G>A	20.37:g.48164483C>T	ENSP00000244043:p.Arg91His					PTGIS_ENST00000478971.1_Intron	p.R91H	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	301	-			91					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.272G>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	9.361	1.067960	0.20067	0.0	2.33E-4	ENSG00000124212	ENST00000244043	T	0.68624	-0.34	5.01	3.07	0.35406	.	0.452476	0.24220	N	0.040442	T	0.48205	0.1487	N	0.16368	0.405	0.35058	D	0.761245	B	0.14438	0.01	B	0.08055	0.003	T	0.50145	-0.8862	10	0.42905	T	0.14	-15.4298	10.6534	0.45661	0.0:0.8382:0.0:0.1618	.	91	Q16647	PTGIS_HUMAN	H	91	ENSP00000244043:R91H	ENSP00000244043:R91H	R	-	2	0	PTGIS	47597890	0.993000	0.37304	0.603000	0.28903	0.174000	0.22865	1.806000	0.38892	0.502000	0.28037	-0.463000	0.05309	CGC		0.557	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			126	594	0	0	0	1	0	126	594					T	48164483	C	T	48164483	3	4	79	1	0	0	0	0	1	0	0	0	12800	768	27	1	1262	1	PTGIS	20	48164483	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	172984	48164483	14861037	20328	30645											
B4GALT5	9334	broad.mit.edu	37	chr20	48252915	48252915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtttttatacaaggcgtcGtatgtgatgtttgcaaagta	10	4	0	1	rs529151995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48252915G>A	ENST00000371711.4	-	9	1288	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	367					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22899	0.0		0.0	False		,,,				2504	0.001					ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1099-1101)taC>taT		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							273	232	246					20																	48252915		2203	4300	6503	SO:0001819	synonymous_variant	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48252915G>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1101C>T	20.37:g.48252915G>A							p.Y367Y	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		9	1288	-			367					E1P625|Q2M394|Q9UJQ8	Silent	SNP	ENST00000371711.4	37	c.1101C>T	CCDS13420.1																																																																																				0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		71	344	0	0	0	1	0	71	344					A	48252915	G	A	48252915	2	1	79	1	0	0	0	0	0	0	0	1	1275	1140	40	1		1	B4GALT5	20	48252915	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	88432	48252915	14772605	20329	30646											
B4GALT5	9334	broad.mit.edu	37	chr20	48259054	48259054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcgctggcgctggagcatgGgaagcaggtgtctgaacagg	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48259054G>T	ENST00000371711.4	-	5	744	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	186					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTGGAGCATGGGAAGCAGGTG	0.493																																						ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(556-558)cCc>cAc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							107	98	101					20																	48259054		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48259054G>T	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.557C>A	20.37:g.48259054G>T	ENSP00000360776:p.Pro186His						p.P186H	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		5	744	-			186					E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.557C>A	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820244	0.90873	.	.	ENSG00000158470	ENST00000371711	T	0.37058	1.22	5.78	4.84	0.62591	.	0.046700	0.85682	D	0.000000	T	0.66906	0.2837	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75468	-0.3307	10	0.87932	D	0	-23.4875	14.7944	0.69868	0.0688:0.0:0.9312:0.0	.	186	O43286	B4GT5_HUMAN	H	186	ENSP00000360776:P186H	ENSP00000360776:P186H	P	-	2	0	B4GALT5	47692461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	1.453000	0.47775	0.650000	0.86243	CCC		0.493	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		49	306	1	0	4.0306e-16	1	4.4197e-16	49	306					T	48259054	G	T	48259054	3	4	79	1	0	0	0	0	1	0	0	0	1275	1232	43	3	629	3	B4GALT5	20	48259054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6139	48259054	14766466	20330	30647											
B4GALT5	9334	broad.mit.edu	37	chr20	48260145	48260145	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagagttcatgaatgTaatccattccaatttcactc	7	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48260145T>C	ENST00000371711.4	-	4	594	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCATGAATGTAATCCATTCC	0.463																																						ENST00000371711.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(406-408)tAc>tGc		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5							203	182	189					20																	48260145		2203	4300	6503	SO:0001583	missense	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48260145T>C	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.407A>G	20.37:g.48260145T>C	ENSP00000360776:p.Tyr136Cys						p.Y136C	NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		4	594	-			136					E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	c.407A>G	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525094	0.64747	.	.	ENSG00000158470	ENST00000371711	T	0.21734	1.99	5.46	-3.22	0.05125	.	0.514621	0.24020	N	0.042290	T	0.14657	0.0354	N	0.14661	0.345	0.23150	N	0.998216	P	0.44521	0.837	P	0.52627	0.704	T	0.18808	-1.0325	10	0.40728	T	0.16	0.0085	5.8684	0.18789	0.1051:0.0634:0.4693:0.3622	.	136	O43286	B4GT5_HUMAN	C	136	ENSP00000360776:Y136C	ENSP00000360776:Y136C	Y	-	2	0	B4GALT5	47693552	0.927000	0.31430	0.005000	0.12908	0.929000	0.56500	1.853000	0.39358	-0.974000	0.03550	0.459000	0.35465	TAC		0.463	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		94	346	0	0	0	1	0	94	346					C	48260145	T	C	48260145	3	2	79	1	0	0	0	0	1	0	0	0	1275	1638	57	4	783	4	B4GALT5	20	48260145	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1091	48260145	14765375	20331	30648											
FAM65C	140876	broad.mit.edu	37	chr20	49214249	49214249	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgtgctctgcagggcTgtggacgaagtggccagacc	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49214249T>G	ENST00000327979.2	-	14	2059		c.e14-2		FAM65C_ENST00000535356.1_Splice_Site|FAM65C_ENST00000045083.2_Splice_Site			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C											endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCAGGGCTGTGGACGAAG	0.662																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e14-2		family with sequence similarity 65, member C							43	32	36					20																	49214249		2203	4300	6503	SO:0001630	splice_region_variant	140876							g.chr20:49214249T>G	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1648-2A>C	20.37:g.49214249T>G						FAM65C_ENST00000045083.2_Splice_Site|FAM65C_ENST00000535356.1_Splice_Site				Q96MK2	FA65C_HUMAN			14	2059	-								Q5QPB6|Q9NQQ2	Splice_Site	SNP	ENST00000327979.2	37		CCDS13431.2	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039431	0.35989	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5877	0.50929	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM65C	48647656	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.106000	0.57804	1.789000	0.52484	0.459000	0.35465	.		0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		Intron	20	82	0	0	0	1	0	20	82					G	49214249	T	G	49214249	5	3	79	1	0	0	0	0	0	0	1	0	5626	1594	55	4	1230	4	FAM65C	20	49214249	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	954104	49214249	13811271	20332	30649											
ADNP	23394	broad.mit.edu	37	chr20	49508536	49508536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgttcctctgggttatcGttagagattttaggttcaac	9	7	2	1	rs189208692	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905					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						CTGGGTTATCGTTAGAGATTT	0.388													G|||	2	0.000399361	0.0	0.0014	5008	,	,		23579	0.001		0.0	False		,,,				2504	0.0					ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(2713-2715)aaC>aaT		activity-dependent neuroprotector homeobox							151	151	151					20																	49508536		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508536G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2715C>T	20.37:g.49508536G>A						ADNP_ENST00000396032.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000349014.3_Silent_p.N905N	p.N905N	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3282	-			905					E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.2715C>T	CCDS13433.1																																																																																				0.388	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		89	781	0	0	0	1	0	89	781					A	49508536	G	A	49508536	2	1	79	1	0	0	0	0	0	0	0	1	323	1136	40	1		1	ADNP	20	49508536	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	294287	49508536	13516984	20333	30650											
ADNP	23394	broad.mit.edu	37	chr20	49509662	49509662	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgaaccatccgcatgTgtgcggccatcttttccaca	8	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49509662T>C	ENST00000396029.3	-	5	2156	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	ADNP_ENST00000371602.4_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R|ADNP_ENST00000396032.3_Missense_Mutation_p.H530R	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	530					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						CATCCGCATGTGTGCGGCCAT	0.408																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(1588-1590)cAc>cGc		activity-dependent neuroprotector homeobox							149	142	144					20																	49509662		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49509662T>C	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.1589A>G	20.37:g.49509662T>C	ENSP00000379346:p.His530Arg					ADNP_ENST00000396032.3_Missense_Mutation_p.H530R|ADNP_ENST00000371602.4_Missense_Mutation_p.H530R|ADNP_ENST00000349014.3_Missense_Mutation_p.H530R	p.H530R	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	2156	-			530					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.1589A>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849202	0.51270	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.01	4.9	0.64082	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	0.69869	0.3159	L	0.49126	1.545	0.52099	D	0.999945	D	0.71674	0.998	D	0.73708	0.981	T	0.72134	-0.4382	9	0.87932	D	0	-0.8131	13.4865	0.61369	0.0:0.0:0.1306:0.8694	.	530	Q9H2P0	ADNP_HUMAN	R	530	.	ENSP00000342905:H530R	H	-	2	0	ADNP	48943069	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.965000	0.70387	1.084000	0.41184	0.528000	0.53228	CAC		0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		148	611	0	0	0	1	0	148	611					C	49509662	T	C	49509662	3	2	79	1	0	0	0	0	1	0	0	0	323	1696	59	4	1723	4	ADNP	20	49509662	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1126	49509662	13515858	20334	30651											
ADNP	23394	broad.mit.edu	37	chr20	49510697	49510697	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctgaaaatgttccctgTaaatgtgcttcctaactatt	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49510697T>C	ENST00000396029.3	-	5	1121	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C|ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	185					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						ATGTTCCCTGTAAATGTGCTT	0.448																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(553-555)tAc>tGc		activity-dependent neuroprotector homeobox							168	160	163					20																	49510697		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510697T>C	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.554A>G	20.37:g.49510697T>C	ENSP00000379346:p.Tyr185Cys					ADNP_ENST00000396032.3_Missense_Mutation_p.Y185C|ADNP_ENST00000371602.4_Missense_Mutation_p.Y185C|ADNP_ENST00000349014.3_Missense_Mutation_p.Y185C	p.Y185C	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	1121	-			185					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.554A>G	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.267821	0.59540	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	L	0.60455	1.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.81885	-0.0727	10	0.49607	T	0.09	-3.5076	16.6438	0.85155	0.0:0.0:0.0:1.0	.	185	Q9H2P0	ADNP_HUMAN	C	185	ENSP00000360662:Y185C;ENSP00000342905:Y185C;ENSP00000379346:Y185C;ENSP00000379349:Y185C	ENSP00000342905:Y185C	Y	-	2	0	ADNP	48944104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.333000	0.79357	0.533000	0.62120	TAC		0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		146	602	0	0	0	1	0	146	602					C	49510697	T	C	49510697	3	2	79	1	0	0	0	0	1	0	0	0	323	1638	57	4	2758	4	ADNP	20	49510697	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1035	49510697	13514823	20335	30652											
MOCS3	8813	broad.mit.edu	37	chr20	49575496	49575496	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggctgagcaggaaccgcaGccagaacggctggttccggt	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49575496G>A	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Silent_p.Q39Q|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank	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						AGGAACCGCAGCCAGAACGGC	0.607																																						ENST00000244051.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						c.(115-117)caG>caA		molybdenum cofactor synthesis 3							41	47	45					20																	49575496		2179	4249	6428	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49575496G>A	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.49575496G>A	Exception_encountered						p.Q39Q	NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN			1	134	+			39					O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	c.117G>A	CCDS13434.1																																																																																				0.607	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		40	496	0	0	0	1	0	40	496					A	49575496	G	A	49575496	1	1	79	0	1	0	0	0	0	0	0	0	9733	962	34	2		2	MOCS3	20	49575496	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	64799	49575496	13450024	20336	30653											
NFATC2	4773	broad.mit.edu	37	chr20	50048864	50048864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcctggtggcttccgcagCgcagctgctggttggtgggt	16	11	0	0	rs373570203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50048864C>T	ENST00000396009.3	-	9	2681	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	NFATC2_ENST00000610033.1_Missense_Mutation_p.R602H|NFATC2_ENST00000371564.3_Missense_Mutation_p.R821H|NFATC2_ENST00000609507.1_Missense_Mutation_p.R602H|NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000609943.1_Missense_Mutation_p.R801H	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	821					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)					GCTTCCGCAGCGCAGCTGCTG	0.652																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(2461-2463)cGc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	55	56	55		2402,2462,2462	5.5	1	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	NFATC2	NM_001136021.1,NM_012340.3,NM_173091.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	801/902,821/922,821/926	50048864	1,13005	2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50048864C>T	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.2462G>A	20.37:g.50048864C>T	ENSP00000379330:p.Arg821His					NFATC2_ENST00000414705.1_Missense_Mutation_p.R801H|NFATC2_ENST00000396009.3_Missense_Mutation_p.R821H	p.R821H	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			9	2681	-	Hepatocellular(150;0.248)		821					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2462G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023731	0.75390	0.0	1.16E-4	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.16457	2.34;2.35;2.36	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.32285	0.0824	L	0.40543	1.245	0.40106	D	0.976437	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.78314	0.945;0.991;0.948;0.899	T	0.03077	-1.1075	10	0.11485	T	0.65	-26.03	19.3156	0.94211	0.0:1.0:0.0:0.0	.	801;801;821;821	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	H	821;821;801	ENSP00000360619:R821H;ENSP00000379330:R821H;ENSP00000396471:R801H	ENSP00000360619:R821H	R	-	2	0	NFATC2	49482271	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.589000	0.67523	2.567000	0.86603	0.655000	0.94253	CGC		0.652	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		57	490	0	0	0	1	0	57	490					T	50048864	C	T	50048864	3	4	79	1	0	0	0	0	1	0	0	0	10404	768	27	1	371	1	NFATC2	20	50048864	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	473368	50048864	12976656	20337	30654											
NFATC2	4773	broad.mit.edu	37	chr20	50071220	50071220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagctcgtgagcagatcGctgggctgcaggcaaaagag	17	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50071220G>A	ENST00000396009.3	-	6	1933	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NFATC2_ENST00000610033.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000371564.3_Nonsense_Mutation_p.R572*|NFATC2_ENST00000609507.1_Nonsense_Mutation_p.R353*|NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000609943.1_Nonsense_Mutation_p.R552*	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	572	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)		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)					TGAGCAGATCGCTGGGCTGCA	0.502																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1714-1716)Cga>Tga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							124	122	123					20																	50071220		2203	4300	6503	SO:0001587	stop_gained	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071220G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1714C>T	20.37:g.50071220G>A	ENSP00000379330:p.Arg572*					NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R552*|NFATC2_ENST00000396009.3_Nonsense_Mutation_p.R572*	p.R572*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			6	1933	-	Hepatocellular(150;0.248)		572			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Nonsense_Mutation	SNP	ENST00000396009.3	37	c.1714C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	41	8.675014	0.98910	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.59	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1039	13.2218	0.59892	0.0:0.0:0.7277:0.2723	.	.	.	.	X	572;572;552	.	ENSP00000360619:R572X	R	-	1	2	NFATC2	49504627	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	4.442000	0.59988	2.622000	0.88805	0.650000	0.86243	CGA		0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		51	574	0	0	0	1	0	51	574					A	50071220	G	A	50071220	4	1	79	1	0	0	0	0	0	1	0	0	10404	1095	38	1	1131	1	NFATC2	20	50071220	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22356	50071220	12954300	20338	30655											
ATP9A	10079	broad.mit.edu	37	chr20	50235228	50235228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaggtgagcttgcccgtgcGctcctgaagcaggcgcacga	14	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50235228G>A	ENST00000338821.5	-	21	2587	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C|ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	775					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						TTGCCCGTGCGCTCCTGAAGC	0.642																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2323-2325)Cgc>Tgc		ATPase, class II, type 9A							43	45	44					20																	50235228		2203	4299	6502	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50235228G>A	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.2323C>T	20.37:g.50235228G>A	ENSP00000342481:p.Arg775Cys					ATP9A_ENST00000402822.1_Missense_Mutation_p.R654C|ATP9A_ENST00000311637.5_Missense_Mutation_p.R639C	p.R775C	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			21	2587	-			775					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.2323C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105149	0.77096	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.82433	-1.61;-1.61;-1.61	5.35	5.35	0.76521	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.87350	0.6155	L	0.56396	1.775	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61658	0.738;0.892	D	0.88117	0.2829	10	0.72032	D	0.01	-33.5724	12.251	0.54597	0.0:0.0:0.7122:0.2878	.	654;775	O75110-2;O75110	.;ATP9A_HUMAN	C	639;775;654	ENSP00000309086:R639C;ENSP00000342481:R775C;ENSP00000385875:R654C	ENSP00000309086:R639C	R	-	1	0	ATP9A	49668635	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.258000	0.51507	2.493000	0.84123	0.655000	0.94253	CGC		0.642	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		81	332	0	0	0	1	0	81	332					A	50235228	G	A	50235228	3	1	79	1	0	0	0	0	1	0	0	0	1199	1087	38	1	852	1	ATP9A	20	50235228	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	164008	50235228	12790292	20339	30656											
ATP9A	10079	broad.mit.edu	37	chr20	50305609	50305609	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaacggcgcctcacctgatgCgaccacagtgccagcccaca	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50305609C>T	ENST00000338821.5	-	9	1057	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	265					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						TCACCTGATGCGACCACAGTG	0.483																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(793-795)Gca>Aca		ATPase, class II, type 9A							148	153	151					20																	50305609		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50305609C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.793G>A	20.37:g.50305609C>T	ENSP00000342481:p.Ala265Thr					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.A265T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			9	1057	-			265					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.793G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003612	0.74932	.	.	ENSG00000054793	ENST00000338821	D	0.90444	-2.67	5.26	5.26	0.73747	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.95197	0.8313	10	0.62326	D	0.03	-19.9054	18.8514	0.92232	0.0:1.0:0.0:0.0	.	265	O75110	ATP9A_HUMAN	T	265	ENSP00000342481:A265T	ENSP00000342481:A265T	A	-	1	0	ATP9A	49739016	1.000000	0.71417	0.106000	0.21319	0.299000	0.27559	7.439000	0.80444	2.437000	0.82529	0.591000	0.81541	GCA		0.483	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		84	1026	0	0	0	1	0	84	1026					T	50305609	C	T	50305609	3	4	79	1	0	0	0	0	1	0	0	0	1199	768	27	1	2430	1	ATP9A	20	50305609	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70381	50305609	12719911	20340	30657											
ATP9A	10079	broad.mit.edu	37	chr20	50310575	50310575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggggagcctctgcgtgcagGccacgggaagccgcagcttc	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50310575G>A	ENST00000338821.5	-	7	878	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	205					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						CTGCGTGCAGGCCACGGGAAG	0.627																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(613-615)gCc>gTc		ATPase, class II, type 9A							48	49	49					20																	50310575		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50310575G>A	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.614C>T	20.37:g.50310575G>A	ENSP00000342481:p.Ala205Val					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.A205V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			7	878	-			205					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.614C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305346	0.60305	.	.	ENSG00000054793	ENST00000338821	D	0.90955	-2.76	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);	0.049853	0.85682	D	0.000000	D	0.83954	0.5366	N	0.11845	0.185	0.80722	D	1	B	0.20459	0.045	B	0.29176	0.099	T	0.81035	-0.1115	10	0.52906	T	0.07	-37.016	15.3011	0.73952	0.0:0.217:0.783:0.0	.	205	O75110	ATP9A_HUMAN	V	205	ENSP00000342481:A205V	ENSP00000342481:A205V	A	-	2	0	ATP9A	49743982	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	6.348000	0.73009	2.329000	0.79093	0.655000	0.94253	GCC		0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		106	439	0	0	0	1	0	106	439					A	50310575	G	A	50310575	3	1	79	1	0	0	0	0	1	0	0	0	1199	1203	42	2	2617	2	ATP9A	20	50310575	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4966	50310575	12714945	20341	30658											
ATP9A	10079	broad.mit.edu	37	chr20	50329607	50329607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacagtgacggccagcaCgaagccctgcagagacagac	13	12	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50329607C>T	ENST00000338821.5	-	4	598	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M|ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	112					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						ACGGCCAGCACGAAGCCCTGC	0.627																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(334-336)Gtg>Atg		ATPase, class II, type 9A							77	52	61					20																	50329607		2203	4299	6502	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50329607C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.334G>A	20.37:g.50329607C>T	ENSP00000342481:p.Val112Met					ATP9A_ENST00000402822.1_Missense_Mutation_p.V112M|ATP9A_ENST00000311637.5_Missense_Mutation_p.V97M	p.V112M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			4	598	-			112					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.334G>A	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761489	0.89932	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.83335	-1.71;-1.71;-1.71	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.060523	0.64402	D	0.000004	D	0.93501	0.7926	H	0.94734	3.575	0.36707	D	0.880458	D;D	0.69078	0.963;0.997	P;D	0.70016	0.758;0.967	D	0.97222	0.9878	10	0.87932	D	0	-25.178	17.8464	0.88731	0.0:1.0:0.0:0.0	.	112;112	O75110-2;O75110	.;ATP9A_HUMAN	M	97;112;112	ENSP00000309086:V97M;ENSP00000342481:V112M;ENSP00000385875:V112M	ENSP00000309086:V97M	V	-	1	0	ATP9A	49763014	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.082000	0.76851	2.216000	0.71823	0.557000	0.71058	GTG		0.627	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		10	57	0	0	0	1	0	10	57					T	50329607	C	T	50329607	3	4	79	1	0	0	0	0	1	0	0	0	1199	536	19	1	2909	1	ATP9A	20	50329607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19032	50329607	12695913	20342	30659											
SALL4	57167	broad.mit.edu	37	chr20	50405478	50405478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccagtgtgagtccgctcGtggatctgaagagcgctagc	13	11	2	3	rs11698418	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405478G>A	ENST00000217086.4	-	3	2775	c.2664C>T	c.(2662-2664)caC>caT	p.H888H	SALL4_ENST00000371539.3_Silent_p.H111H|SALL4_ENST00000395997.3_Silent_p.H451H	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	888			H -> R (in DRRS). {ECO:0000269|PubMed:16402211}.		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						GAGTCCGCTCGTGGATCTGAA	0.542													G|||	4	0.000798722	0.0023	0.0	5008	,	,		18547	0.0		0.001	False		,,,				2504	0.0					ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2662-2664)caC>caT		spalt-like transcription factor 4		G		1,4405	2.1+/-5.4	0,1,2202	85	73	77		2664	-4.4	0.9	20	dbSNP_120	77	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SALL4	NM_020436.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		888/1054	50405478	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50405478G>A	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.2664C>T	20.37:g.50405478G>A						SALL4_ENST00000371539.3_Silent_p.H111H|SALL4_ENST00000395997.3_Silent_p.H451H	p.H888H	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			3	2775	-			888		H -> R (in DRRS).			A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	ENST00000217086.4	37	c.2664C>T	CCDS13438.1																																																																																				0.542	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			71	306	0	0	0	1	0	71	306					A	50405478	G	A	50405478	2	1	79	1	0	0	0	0	0	0	0	1	13863	1136	40	1		1	SALL4	20	50405478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	75871	50405478	12620042	20343	30660											
SALL4	57167	broad.mit.edu	37	chr20	50405543	50405543	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagccatgttgcttggCctgtcggcgtggctgggctg	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405543C>T	ENST00000217086.4	-	3	2710	c.2599G>A	c.(2599-2601)Gcc>Acc	p.A867T	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.A90T|SALL4_ENST00000395997.3_Missense_Mutation_p.A430T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	867					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						TGTTGCTTGGCCTGTCGGCGT	0.567																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2599-2601)Gcc>Acc		spalt-like transcription factor 4							62	54	57					20																	50405543		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50405543C>T	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.2599G>A	20.37:g.50405543C>T	ENSP00000217086:p.Ala867Thr					SALL4_ENST00000371539.3_Missense_Mutation_p.A90T|SALL4_ENST00000395997.3_Missense_Mutation_p.A430T	p.A867T	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			3	2710	-			867					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2599G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119256	0.56505	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09163	3.01;3.21;3.24	5.73	4.79	0.61399	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.332661	0.22021	N	0.065740	T	0.13586	0.0329	L	0.47190	1.495	0.42929	D	0.994317	B;P;P	0.48294	0.028;0.791;0.908	B;B;P	0.45406	0.02;0.196;0.479	T	0.11372	-1.0590	10	0.18710	T	0.47	-16.0971	14.6039	0.68463	0.0:0.9296:0.0:0.0704	.	430;90;867	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	T	867;430;90	ENSP00000217086:A867T;ENSP00000379319:A430T;ENSP00000360594:A90T	ENSP00000217086:A867T	A	-	1	0	SALL4	49838950	0.897000	0.30589	1.000000	0.80357	0.996000	0.88848	1.537000	0.36083	1.413000	0.46997	0.655000	0.94253	GCC		0.567	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			50	248	0	0	0	1	0	50	248					T	50405543	C	T	50405543	3	4	79	1	0	0	0	0	1	0	0	0	13863	739	26	2	570	2	SALL4	20	50405543	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	65	50405543	12619977	20344	30661											
SALL4	57167	broad.mit.edu	37	chr20	50406636	50406636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactttgacttgatgctttCggcttgactattggccgggg	13	8	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406636C>T	ENST00000217086.4	-	2	2497	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	796					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						TTGATGCTTTCGGCTTGACTA	0.527																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2386-2388)Gaa>Aaa		spalt-like transcription factor 4							77	75	76					20																	50406636		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406636C>T	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.2386G>A	20.37:g.50406636C>T	ENSP00000217086:p.Glu796Lys					SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	p.E796K	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2497	-			796					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2386G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687702	0.48097	.	.	ENSG00000101115	ENST00000217086	T	0.09723	2.95	5.67	5.67	0.87782	.	0.162064	0.29246	N	0.012702	T	0.19725	0.0474	M	0.77820	2.39	0.80722	D	1	D	0.56968	0.978	B	0.43155	0.41	T	0.06826	-1.0805	10	0.25106	T	0.35	-22.0237	19.7711	0.96366	0.0:1.0:0.0:0.0	.	796	Q9UJQ4	SALL4_HUMAN	K	796	ENSP00000217086:E796K	ENSP00000217086:E796K	E	-	1	0	SALL4	49840043	0.929000	0.31497	0.817000	0.32601	0.670000	0.39368	3.108000	0.50337	2.654000	0.90174	0.655000	0.94253	GAA		0.527	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			78	340	0	0	0	1	0	78	340					T	50406636	C	T	50406636	3	4	79	1	0	0	0	0	1	0	0	0	13863	893	31	1	787	1	SALL4	20	50406636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1093	50406636	12618884	20345	30662											
SALL4	57167	broad.mit.edu	37	chr20	50406812	50406812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggttaaaaggggcaggaCccactttccctggggcatct	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406812C>T	ENST00000217086.4	-	2	2321	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	737					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						AGGGGCAGGACCCACTTTCCC	0.597																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2209-2211)gGt>gAt		spalt-like transcription factor 4							50	45	46					20																	50406812		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406812C>T	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.2210G>A	20.37:g.50406812C>T	ENSP00000217086:p.Gly737Asp					SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	p.G737D	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2321	-			737					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2210G>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	8.629	0.893212	0.17613	.	.	ENSG00000101115	ENST00000217086	T	0.08896	3.04	5.54	0.963	0.19649	.	0.340850	0.21557	N	0.072629	T	0.07413	0.0187	L	0.57536	1.79	0.22081	N	0.999371	B	0.31680	0.335	B	0.27500	0.08	T	0.26155	-1.0111	10	0.34782	T	0.22	-6.1887	5.3879	0.16227	0.1542:0.4621:0.3096:0.0741	.	737	Q9UJQ4	SALL4_HUMAN	D	737	ENSP00000217086:G737D	ENSP00000217086:G737D	G	-	2	0	SALL4	49840219	0.633000	0.27181	0.017000	0.16124	0.356000	0.29392	2.529000	0.45632	0.237000	0.21200	0.561000	0.74099	GGT		0.597	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			22	211	0	0	0	1	0	22	211					T	50406812	C	T	50406812	3	4	79	1	0	0	0	0	1	0	0	0	13863	507	18	2	963	2	SALL4	20	50406812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	176	50406812	12618708	20346	30663											
SALL4	57167	broad.mit.edu	37	chr20	50408810	50408810	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatttctcacagacgtgcGtctcctcccgacgaagccgc	9	16	2	1	rs374255657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50408810G>A	ENST00000217086.4	-	2	323	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.T71M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	71					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						ACAGACGTGCGTCTCCTCCCG	0.488																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(211-213)aCg>aTg		spalt-like transcription factor 4		G	MET/THR	0,4406		0,0,2203	60	61	61		212	5.5	0.1	20		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	SALL4	NM_020436.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	71/1054	50408810	1,13005	2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408810G>A	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.212C>T	20.37:g.50408810G>A	ENSP00000217086:p.Thr71Met					SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Missense_Mutation_p.T71M	p.T71M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	323	-			71					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.212C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759725	0.89932	0.0	1.16E-4	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.50813	0.73;0.73	5.53	5.53	0.82687	.	0.163396	0.29314	N	0.012505	T	0.73140	0.3549	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.94	T	0.77496	-0.2566	10	0.87932	D	0	-27.7113	19.4467	0.94851	0.0:0.0:1.0:0.0	.	71;71	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	M	71	ENSP00000217086:T71M;ENSP00000379319:T71M	ENSP00000217086:T71M	T	-	2	0	SALL4	49842217	1.000000	0.71417	0.068000	0.19968	0.102000	0.19082	7.635000	0.83286	2.582000	0.87167	0.655000	0.94253	ACG		0.488	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			91	295	0	0	0	1	0	91	295					A	50408810	G	A	50408810	3	1	79	1	0	0	0	0	1	0	0	0	13863	1145	40	1	2961	1	SALL4	20	50408810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1998	50408810	12616710	20347	30664											
ZFP64	55734	broad.mit.edu	37	chr20	50701282	50701282	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgacgaaggaggcgccgcaGgtctcacagcggaaggccct	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50701282G>T	ENST00000361387.2	-	9	1812	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.T365T	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCGCCGCAGGTCTCACAGC	0.602																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1750-1752)acC>acA		ZFP64 zinc finger protein							58	48	52					20																	50701282		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701282G>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1752C>A	20.37:g.50701282G>T						ZFP64_ENST00000371523.4_Silent_p.T365T|ZFP64_ENST00000371518.2_Intron	p.T584T	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1812	-			429					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000361387.2	37	c.1752C>A	CCDS13439.1																																																																																				0.602	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		37	203	1	0	9.8876e-21	1	1.10988e-20	37	203					T	50701282	G	T	50701282	2	4	79	1	0	0	0	0	0	0	0	1	17705	987	35	3		3	ZFP64	20	50701282	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	292472	50701282	12324238	20348	30665											
ZFP64	55734	broad.mit.edu	37	chr20	50769195	50769195	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actgcagcggcggcagcctgGacgatggtgttcgcctgggg	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50769195G>A	ENST00000216923.4	-	6	1885	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGCAGCCTGGACGATGGTGT	0.647																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1534-1536)gtC>gtT		ZFP64 zinc finger protein							22	25	24					20																	50769195		2202	4300	6502	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769195G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1536C>T	20.37:g.50769195G>A						ZFP64_ENST00000371515.4_Silent_p.V510V|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.V458V|ZFP64_ENST00000361387.2_Intron	p.V512V	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1885	-			512					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.1536C>T	CCDS13440.1																																																																																				0.647	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		35	190	0	0	0	1	0	35	190					A	50769195	G	A	50769195	2	1	79	1	0	0	0	0	0	0	0	1	17705	1161	41	2		2	ZFP64	20	50769195	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67913	50769195	12256325	20349	30666											
ZFP64	55734	broad.mit.edu	37	chr20	50782534	50782534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaggtaagtttgatagCcatgttcaaaaacaaattct	9	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50782534C>T	ENST00000216923.4	-	3	666	c.317G>A	c.(316-318)gGc>gAc	p.G106D	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000346617.4_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTTGATAGCCATGTTCAAA	0.423																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(316-318)gGc>gAc		ZFP64 zinc finger protein							147	131	136					20																	50782534		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50782534C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.317G>A	20.37:g.50782534C>T	ENSP00000216923:p.Gly106Asp					ZFP64_ENST00000371515.4_Missense_Mutation_p.G104D|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Missense_Mutation_p.G106D|ZFP64_ENST00000346617.4_Intron|ZFP64_ENST00000361387.2_Missense_Mutation_p.G106D	p.G106D	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			3	666	-			106					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.317G>A	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426445	0.62733	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000371515;ENST00000371516	T;T;T;T	0.07908	3.25;3.24;3.15;3.15	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.25382	0.0617	L	0.56769	1.78	0.44181	D	0.996993	D;D;P	0.89917	1.0;1.0;0.747	D;D;B	0.91635	0.999;0.999;0.255	T	0.00822	-1.1552	10	0.20046	T	0.44	-34.4146	18.1401	0.89637	0.0:1.0:0.0:0.0	.	104;106;106	Q5JWM1;Q9NPA5;Q9NTW7	.;ZF64A_HUMAN;ZF64B_HUMAN	D	106;106;106;104;106	ENSP00000360573:G106D;ENSP00000355179:G106D;ENSP00000216923:G106D;ENSP00000360570:G104D	ENSP00000216923:G106D	G	-	2	0	ZFP64	50215941	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	3.755000	0.55197	2.726000	0.93360	0.655000	0.94253	GGC		0.423	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		38	246	0	0	0	1	0	38	246					T	50782534	C	T	50782534	3	4	79	1	0	0	0	0	1	0	0	0	17705	739	26	2	2935	2	ZFP64	20	50782534	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13339	50782534	12242986	20350	30667											
TSHZ2	128553	broad.mit.edu	37	chr20	51870294	51870294	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggacatcaagagtgtctgCggcagagatgcctcagacaa	12	10	3	3	rs371445975		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870294C>T	ENST00000371497.5	+	2	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.C96C|TSHZ2_ENST00000603338.2_Silent_p.C96C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	99					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)			AGAGTGTCTGCGGCAGAGATG	0.512																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(295-297)tgC>tgT		teashirt zinc finger homeobox 2		C	,	0,4406		0,0,2203	92	79	83		288,297	-1.2	0.8	20		83	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	TSHZ2	NM_001193421.1,NM_173485.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	96/1032,99/1035	51870294	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870294C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.297C>T	20.37:g.51870294C>T						TSHZ2_ENST00000329613.6_Silent_p.C96C|TSHZ2_ENST00000603338.2_Silent_p.C96C	p.C99C	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1184	+			99					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.297C>T	CCDS33490.1																																																																																				0.512	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		49	229	0	0	0	1	0	49	229					T	51870294	C	T	51870294	2	4	79	1	0	0	0	0	0	0	0	1	16677	776	27	1		1	TSHZ2	20	51870294	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1087760	51870294	11155226	20351	30668											
TSHZ2	128553	broad.mit.edu	37	chr20	51870871	51870871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccctccaagatttgagcGtccacatgattaaaacaaaa	5	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870871G>A	ENST00000371497.5	+	2	1761	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	292					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)			AGATTTGAGCGTCCACATGAT	0.438																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(874-876)Gtc>Atc		teashirt zinc finger homeobox 2							66	61	63					20																	51870871		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870871G>A	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.874G>A	20.37:g.51870871G>A	ENSP00000360552:p.Val292Ile					TSHZ2_ENST00000329613.6_Missense_Mutation_p.V289I|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V289I	p.V292I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1761	+			292					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.874G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637790	0.87760	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.41758	0.99;0.99	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.54323	1.7	0.80722	D	1	D	0.58620	0.983	D	0.70935	0.971	T	0.62599	-0.6820	10	0.66056	D	0.02	-3.0281	19.4463	0.94849	0.0:0.0:1.0:0.0	.	292	Q9NRE2	TSH2_HUMAN	I	292;289	ENSP00000360552:V292I;ENSP00000333114:V289I	ENSP00000333114:V289I	V	+	1	0	TSHZ2	51304278	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.414000	0.97362	2.663000	0.90544	0.549000	0.68633	GTC		0.438	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		56	229	0	0	0	1	0	56	229					A	51870871	G	A	51870871	3	1	79	1	0	0	0	0	1	0	0	0	16677	1145	40	1	880	1	TSHZ2	20	51870871	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	577	51870871	11154649	20352	30669											
TSHZ2	128553	broad.mit.edu	37	chr20	51871469	51871469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatcctctacaaaaacCtttagaccctacaatcaaat	3	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871469C>A	ENST00000371497.5	+	2	2359	c.1472C>A	c.(1471-1473)cCt>cAt	p.P491H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	491					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)			CTACAAAAACCTTTAGACCCT	0.403																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1471-1473)cCt>cAt		teashirt zinc finger homeobox 2							74	80	78					20																	51871469		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871469C>A	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.1472C>A	20.37:g.51871469C>A	ENSP00000360552:p.Pro491His					TSHZ2_ENST00000329613.6_Missense_Mutation_p.P488H|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P488H	p.P491H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2359	+			491					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1472C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679273	0.29783	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.28895	1.59;1.59	5.95	5.95	0.96441	.	0.344127	0.34700	N	0.003744	T	0.48537	0.1505	L	0.54323	1.7	0.52501	D	0.999952	D	0.69078	0.997	P	0.56865	0.808	T	0.24799	-1.0150	10	0.46703	T	0.11	-8.973	20.3655	0.98876	0.0:1.0:0.0:0.0	.	491	Q9NRE2	TSH2_HUMAN	H	491;488;17	ENSP00000360552:P491H;ENSP00000333114:P488H	ENSP00000333114:P488H	P	+	2	0	TSHZ2	51304876	0.966000	0.33281	0.094000	0.20943	0.013000	0.08279	4.562000	0.60816	2.822000	0.97130	0.643000	0.83706	CCT		0.403	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	480	1	0	9.95505e-16	1	1.08957e-15	24	480					A	51871469	C	A	51871469	3	1	79	1	0	0	0	0	1	0	0	0	16677	681	24	3	1478	3	TSHZ2	20	51871469	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598	51871469	11154051	20353	30670											
TSHZ2	128553	broad.mit.edu	37	chr20	51871966	51871966	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaaggaggaggagaagCtgatgaaagagggcagcgag	18	6	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871966C>A	ENST00000371497.5	+	2	2856	c.1969C>A	c.(1969-1971)Ctg>Atg	p.L657M	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	657					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)			GGAGGAGAAGCTGATGAAAGA	0.597																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1969-1971)Ctg>Atg		teashirt zinc finger homeobox 2							53	55	55					20																	51871966		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871966C>A	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.1969C>A	20.37:g.51871966C>A	ENSP00000360552:p.Leu657Met					TSHZ2_ENST00000329613.6_Missense_Mutation_p.L654M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.L654M	p.L657M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2856	+			657					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1969C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	8.135	0.783870	0.16189	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37915	1.17;1.17	3.64	3.64	0.41730	.	0.960519	0.08689	N	0.908319	T	0.24470	0.0593	N	0.08118	0	0.23204	N	0.998125	B	0.27732	0.187	B	0.33890	0.172	T	0.18967	-1.0320	10	0.48119	T	0.1	-0.1339	11.1201	0.48284	0.0:1.0:0.0:0.0	.	657	Q9NRE2	TSH2_HUMAN	M	657;654;183	ENSP00000360552:L657M;ENSP00000333114:L654M	ENSP00000333114:L654M	L	+	1	2	TSHZ2	51305373	0.755000	0.28372	0.926000	0.36857	0.890000	0.51754	1.467000	0.35321	2.324000	0.78689	0.643000	0.83706	CTG		0.597	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		55	287	1	0	3.73128e-16	1	4.09274e-16	55	287					A	51871966	C	A	51871966	3	1	79	1	0	0	0	0	1	0	0	0	16677	796	28	3	1975	3	TSHZ2	20	51871966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	497	51871966	11153554	20354	30671											
ZNF217	7764	broad.mit.edu	37	chr20	52192497	52192497	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcatagcctcttctgtAattggccccgggctggtcaa	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192497A>G	ENST00000371471.2	-	4	3231	c.2806T>C	c.(2806-2808)Tac>Cac	p.Y936H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	936					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCTTCTGTAATTGGCCCCG	0.547																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2806-2808)Tac>Cac		zinc finger protein 217							117	96	103					20																	52192497		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192497A>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2806T>C	20.37:g.52192497A>G	ENSP00000360526:p.Tyr936His					ZNF217_ENST00000302342.3_Missense_Mutation_p.Y936H	p.Y936H			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	3231	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		936					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.2806T>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964716	0.34659	.	.	ENSG00000171940	ENST00000371471;ENST00000302342;ENST00000437222;ENST00000395971	T;T	0.09630	2.96;2.96	5.25	2.93	0.34026	.	1.460060	0.03847	N	0.271603	T	0.13927	0.0337	L	0.48642	1.525	0.09310	N	1	P	0.50943	0.94	P	0.44732	0.459	T	0.16305	-1.0407	10	0.51188	T	0.08	-9.4007	4.8027	0.13305	0.6039:0.159:0.2371:0.0	.	936	O75362	ZN217_HUMAN	H	936;936;24;96	ENSP00000360526:Y936H;ENSP00000304308:Y936H	ENSP00000304308:Y936H	Y	-	1	0	ZNF217	51625904	0.004000	0.15560	0.001000	0.08648	0.006000	0.05464	0.839000	0.27586	0.297000	0.22615	0.528000	0.53228	TAC		0.547	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		55	248	0	0	0	1	0	55	248					G	52192497	A	G	52192497	3	3	79	1	0	0	0	0	1	0	0	0	17825	362	13	4	348	4	ZNF217	20	52192497	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	320531	52192497	10833023	20355	30672											
ZNF217	7764	broad.mit.edu	37	chr20	52192856	52192856	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgggacttcaggttaCttggggctaaagtgctagag	15	6	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192856C>T	ENST00000371471.2	-	4	2872	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N|RP4-724E16.2_ENST00000424252.1_RNA			O75362	ZN217_HUMAN	zinc finger protein 217	816					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTTCAGGTTACTTGGGGCTAA	0.567																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2446-2448)aGt>aAt		zinc finger protein 217							61	66	65					20																	52192856		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192856C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2447G>A	20.37:g.52192856C>T	ENSP00000360526:p.Ser816Asn					ZNF217_ENST00000302342.3_Missense_Mutation_p.S816N	p.S816N			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2872	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		816					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.2447G>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092140	0.36952	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09255	3.0;3.0	5.23	4.28	0.50868	.	0.607508	0.18458	N	0.140604	T	0.08626	0.0214	L	0.39397	1.21	0.39431	D	0.967082	B	0.19200	0.034	B	0.14023	0.01	T	0.16928	-1.0386	10	0.18276	T	0.48	-30.6571	8.4592	0.32917	0.0:0.8275:0.0:0.1725	.	816	O75362	ZN217_HUMAN	N	816	ENSP00000360526:S816N;ENSP00000304308:S816N	ENSP00000304308:S816N	S	-	2	0	ZNF217	51626263	0.987000	0.35691	0.894000	0.35097	0.946000	0.59487	2.037000	0.41174	2.439000	0.82584	0.555000	0.69702	AGT		0.567	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		90	406	0	0	0	1	0	90	406					T	52192856	C	T	52192856	3	4	79	1	0	0	0	0	1	0	0	0	17825	565	20	2	707	2	ZNF217	20	52192856	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	359	52192856	10832664	20356	30673											
ZNF217	7764	broad.mit.edu	37	chr20	52198796	52198796	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gctggactactctccaagccTtgctgcagtttgcttctggc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198796T>G	ENST00000371471.2	-	2	995	c.570A>C	c.(568-570)caA>caC	p.Q190H	ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	190					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCTCCAAGCCTTGCTGCAGTT	0.512																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(568-570)caA>caC		zinc finger protein 217							165	163	163					20																	52198796		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198796T>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.570A>C	20.37:g.52198796T>G	ENSP00000360526:p.Gln190His					ZNF217_ENST00000302342.3_Missense_Mutation_p.Q190H	p.Q190H			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	995	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		190					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.570A>C	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.310239	0.60414	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10288	2.89;2.89	5.15	-10.3	0.00346	.	0.432865	0.11934	U	0.515418	T	0.12390	0.0301	L	0.32530	0.975	0.38519	D	0.948665	D	0.62365	0.991	P	0.57324	0.818	T	0.57820	-0.7745	10	0.49607	T	0.09	-11.1182	12.6688	0.56857	0.0:0.622:0.1:0.2781	.	190	O75362	ZN217_HUMAN	H	190	ENSP00000360526:Q190H;ENSP00000304308:Q190H	ENSP00000304308:Q190H	Q	-	3	2	ZNF217	51632203	0.000000	0.05858	0.234000	0.24042	0.679000	0.39708	-1.241000	0.02911	-2.023000	0.00937	0.482000	0.46254	CAA		0.512	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		51	963	0	0	0	1	0	51	963					G	52198796	T	G	52198796	3	3	79	1	0	0	0	0	1	0	0	0	17825	1606	56	4	2592	4	ZNF217	20	52198796	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5940	52198796	10826724	20357	30674											
ZNF217	7764	broad.mit.edu	37	chr20	52198924	52198924	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatctttgtgtgttcTcatgtggatctcaacatcaa	8	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198924T>G	ENST00000371471.2	-	2	867	c.442A>C	c.(442-444)Aga>Cga	p.R148R	ZNF217_ENST00000302342.3_Silent_p.R148R|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	148					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTGTGTGTTCTCATGTGGATC	0.408																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(442-444)Aga>Cga		zinc finger protein 217							150	140	143					20																	52198924		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198924T>G	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.442A>C	20.37:g.52198924T>G						ZNF217_ENST00000302342.3_Silent_p.R148R	p.R148R			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	867	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		148					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.442A>C	CCDS13443.1																																																																																				0.408	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		200	830	0	0	0	1	0	200	830					G	52198924	T	G	52198924	2	3	79	1	0	0	0	0	0	0	0	1	17825	1559	54	4		4	ZNF217	20	52198924	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	128	52198924	10826596	20358	30675											
CYP24A1	1591	broad.mit.edu	37	chr20	52788203	52788203	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggacccgctgccagtcttcCccttccctgtgagagaagca	10	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52788203C>T	ENST00000216862.3	-	3	849	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CYP24A1_ENST00000395954.3_Silent_p.G10G|CYP24A1_ENST00000395955.3_Silent_p.G152G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	152					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)	GCCAGTCTTCCCCTTCCCTGT	0.463																																						ENST00000216862.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(454-456)ggG>ggA		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)						112	115	114					20																	52788203		2203	4300	6503	SO:0001819	synonymous_variant	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52788203C>T	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.456G>A	20.37:g.52788203C>T						CYP24A1_ENST00000395955.3_Silent_p.G152G|CYP24A1_ENST00000395954.3_Silent_p.G10G	p.G152G	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		3	849	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		152					Q15807|Q32ML3|Q5I2W7	Silent	SNP	ENST00000216862.3	37	c.456G>A	CCDS33491.1																																																																																				0.463	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2			115	569	0	0	0	1	0	115	569					T	52788203	C	T	52788203	2	4	79	1	0	0	0	0	0	0	0	1	4165	610	22	2		2	CYP24A1	20	52788203	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	589279	52788203	10237317	20359	30676											
DOK5	55816	broad.mit.edu	37	chr20	53208230	53208230	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgcagattacatatgAgtatatctgtctttgggacg	10	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53208230A>C	ENST00000262593.5	+	5	835	c.485A>C	c.(484-486)gAg>gCg	p.E162A	DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	162	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTACATATGAGTATATCTGT	0.458																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(484-486)gAg>gCg		docking protein 5							151	139	143					20																	53208230		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53208230A>C	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.485A>C	20.37:g.53208230A>C	ENSP00000262593:p.Glu162Ala					DOK5_ENST00000395939.1_Missense_Mutation_p.E54A	p.E162A	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		5	835	+			162			IRS-type PTB.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.485A>C	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697260	0.88830	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.75477	-0.94;-0.94	5.66	5.66	0.87406	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.84906	0.5576	M	0.76002	2.32	0.58432	D	0.999999	P;D	0.58970	0.906;0.984	P;D	0.72075	0.651;0.976	D	0.84323	0.0517	10	0.36615	T	0.2	-21.0585	14.721	0.69305	1.0:0.0:0.0:0.0	.	54;162	Q9P104-2;Q9P104	.;DOK5_HUMAN	A	162;54	ENSP00000262593:E162A;ENSP00000379270:E54A	ENSP00000262593:E162A	E	+	2	0	DOK5	52641637	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.270000	0.95690	2.155000	0.67459	0.528000	0.53228	GAG		0.458	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			74	317	0	0	0	1	0	74	317					C	53208230	A	C	53208230	3	2	79	1	0	0	0	0	1	0	0	0	4716	304	11	4	503	4	DOK5	20	53208230	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	420027	53208230	9817290	20360	30677											
DOK5	55816	broad.mit.edu	37	chr20	53227033	53227033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatagccgagcagcacgagCgcttgctacagagtgtgaaa	12	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53227033C>T	ENST00000262593.5	+	6	1056	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	236	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCAGCACGAGCGCTTGCTACA	0.507																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(706-708)Cgc>Tgc		docking protein 5							71	65	67					20																	53227033		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53227033C>T	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.706C>T	20.37:g.53227033C>T	ENSP00000262593:p.Arg236Cys					DOK5_ENST00000395939.1_Missense_Mutation_p.R128C	p.R236C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		6	1056	+			236			IRS-type PTB.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.706C>T	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961252	0.92791	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.83250	-1.7;-1.7	5.78	5.78	0.91487	Insulin receptor substrate-1, PTB (1);	0.048112	0.85682	D	0.000000	D	0.89687	0.6787	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.975	P;B	0.57846	0.828;0.232	D	0.90145	0.4216	10	0.66056	D	0.02	-34.542	19.0159	0.92894	0.0:1.0:0.0:0.0	.	128;236	Q9P104-2;Q9P104	.;DOK5_HUMAN	C	236;128	ENSP00000262593:R236C;ENSP00000379270:R128C	ENSP00000262593:R236C	R	+	1	0	DOK5	52660440	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	4.543000	0.60684	2.732000	0.93576	0.655000	0.94253	CGC		0.507	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			43	228	0	0	0	1	0	43	228					T	53227033	C	T	53227033	3	4	79	1	0	0	0	0	1	0	0	0	4716	768	27	1	728	1	DOK5	20	53227033	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18803	53227033	9798487	20361	30678											
DOK5	55816	broad.mit.edu	37	chr20	53260055	53260055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatggtgcccctgcctcGcagcgcctactggcagcaca	10	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53260055G>A	ENST00000262593.5	+	7	1144	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R265H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCCCTGCCTCGCAGCGCCTAC	0.627																																						ENST00000262593.5																			1	Substitution - Missense(1)	p.R265H(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(793-795)cGc>cAc		docking protein 5							56	51	53					20																	53260055		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53260055G>A	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.794G>A	20.37:g.53260055G>A	ENSP00000262593:p.Arg265His					DOK5_ENST00000395939.1_Missense_Mutation_p.R157H	p.R265H	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		7	1144	+			265					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.794G>A	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.975817	0.92982	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.93426	-2.23;-3.22	5.29	5.29	0.74685	.	0.057208	0.64402	D	0.000001	D	0.94863	0.8340	L	0.36672	1.1	0.58432	D	0.999991	D;D	0.89917	1.0;0.995	D;D	0.80764	0.994;0.964	D	0.95295	0.8398	10	0.59425	D	0.04	-7.3495	17.9128	0.88939	0.0:0.0:1.0:0.0	.	157;265	Q9P104-2;Q9P104	.;DOK5_HUMAN	H	265;157	ENSP00000262593:R265H;ENSP00000379270:R157H	ENSP00000262593:R265H	R	+	2	0	DOK5	52693462	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.468000	0.73551	2.464000	0.83262	0.563000	0.77884	CGC		0.627	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			61	248	0	0	0	1	0	61	248					A	53260055	G	A	53260055	3	1	79	1	0	0	0	0	1	0	0	0	4716	1087	38	1	820	1	DOK5	20	53260055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33022	53260055	9765465	20362	30679											
CBLN4	140689	broad.mit.edu	37	chr20	54575785	54575785	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaggtcaaaacacacAcctggatagtttggctctgg	12	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	ENST00000064571.2	-	2	1709		c.e2+1			NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor						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)			CAAAACACACACCTGGATAGT	0.363																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.e2+1		cerebellin 4 precursor							146	150	148					20																	54575785		2203	4300	6503	SO:0001630	splice_region_variant	140689					cell junction|extracellular region|synapse		g.chr20:54575785A>G	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.408+1T>C	20.37:g.54575785A>G								NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		2	1709	-								A8K0S5	Splice_Site	SNP	ENST00000064571.2	37		CCDS13448.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006394	0.54361	.	.	ENSG00000054803	ENST00000064571	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5198	0.75857	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBLN4	54009192	1.000000	0.71417	0.992000	0.48379	0.536000	0.34869	8.896000	0.92521	2.077000	0.62373	0.374000	0.22700	.		0.363	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617	Intron	96	494	0	0	0	1	0	96	494					G	54575785	A	G	54575785	5	3	79	1	0	0	0	0	0	0	1	0	2714	173	6	4	203	4	CBLN4	20	54575785	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1315730	54575785	8449735	20363	30680											
CBLN4	140689	broad.mit.edu	37	chr20	54579107	54579107	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcgagtcgcacaccaccaGacacttgccctccagcacga	8	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54579107G>T	ENST00000064571.2	-	1	1421	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	41					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)			CACACCACCAGACACTTGCCC	0.692																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(121-123)Ctg>Atg		cerebellin 4 precursor							48	46	47					20																	54579107		2203	4300	6503	SO:0001583	missense	140689					cell junction|extracellular region|synapse		g.chr20:54579107G>T	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.121C>A	20.37:g.54579107G>T	ENSP00000064571:p.Leu41Met						p.L41M	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		1	1421	-			41					A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	c.121C>A	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250479	0.59212	.	.	ENSG00000054803	ENST00000064571	D	0.86230	-2.09	4.98	2.99	0.34606	.	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.78456	2.415	0.58432	D	0.999996	B	0.32338	0.365	B	0.32090	0.14	D	0.84230	0.0466	10	0.40728	T	0.16	-14.5029	11.7116	0.51628	0.1514:0.0:0.8486:0.0	.	41	Q9NTU7	CBLN4_HUMAN	M	41	ENSP00000064571:L41M	ENSP00000064571:L41M	L	-	1	2	CBLN4	54012514	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	4.247000	0.58750	1.222000	0.43521	0.655000	0.94253	CTG		0.692	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		41	234	1	0	3.61848e-18	1	4.01023e-18	41	234					T	54579107	G	T	54579107	3	4	79	1	0	0	0	0	1	0	0	0	2714	933	33	3	496	3	CBLN4	20	54579107	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3322	54579107	8446413	20364	30681											
MC3R	4159	broad.mit.edu	37	chr20	54824572	54824572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagcgcatagcagcactgCcacctgccgacggggtggcc	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824572C>T	ENST00000243911.2	+	1	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	225					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCACTGCCACCTGCCGA	0.597																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(673-675)Cca>Tca		melanocortin 3 receptor							189	126	147					20																	54824572		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824572C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.673C>T	20.37:g.54824572C>T	ENSP00000243911:p.Pro225Ser						p.P225S	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	785	+			262					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.673C>T	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274576	0.59649	.	.	ENSG00000124089	ENST00000243911	T	0.70869	-0.52	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.81465	0.4828	L	0.56340	1.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.82263	-0.0544	10	0.51188	T	0.08	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	262	P41968	MC3R_HUMAN	S	225	ENSP00000243911:P225S	ENSP00000243911:P225S	P	+	1	0	MC3R	54257979	1.000000	0.71417	0.983000	0.44433	0.222000	0.24845	7.624000	0.83124	2.259000	0.74868	0.555000	0.69702	CCA		0.597	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			72	296	0	0	0	1	0	72	296					T	54824572	C	T	54824572	3	4	79	1	0	0	0	0	1	0	0	0	9406	739	26	2	675	2	MC3R	20	54824572	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	245465	54824572	8200948	20365	30682											
MC3R	4159	broad.mit.edu	37	chr20	54824796	54824796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcgacccactcatctaCgctttccggagcctggaatt	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824796C>T	ENST00000243911.2	+	1	1009	c.897C>T	c.(895-897)taC>taT	p.Y299Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	299					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CACTCATCTACGCTTTCCGGA	0.537																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(895-897)taC>taT		melanocortin 3 receptor							188	175	179					20																	54824796		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824796C>T		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.897C>T	20.37:g.54824796C>T							p.Y299Y	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	1009	+			336					Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.897C>T	CCDS13449.2																																																																																				0.537	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			24	940	0	0	0	1	0	24	940					T	54824796	C	T	54824796	2	4	79	1	0	0	0	0	0	0	0	1	9406	547	19	1		1	MC3R	20	54824796	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224	54824796	8200724	20366	30683											
AURKA	116151	broad.mit.edu	37	chr20	54945360	54945360	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaaatgaggtccctggCtccctctgttacaaagtcag	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54945360C>T	ENST00000371384.3	+	0	3046				AURKA_ENST00000395914.1_Missense_Mutation_p.A356T|AURKA_ENST00000395913.3_Missense_Mutation_p.A356T|AURKA_ENST00000395915.3_Missense_Mutation_p.A356T|AURKA_ENST00000371356.2_Missense_Mutation_p.A356T|AURKA_ENST00000312783.6_Missense_Mutation_p.A356T|AURKA_ENST00000395911.1_Missense_Mutation_p.A356T|AURKA_ENST00000347343.2_Missense_Mutation_p.A356T|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395909.4_Missense_Mutation_p.A356T	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											AGGTCCCTGGCTCCCTCTGTT	0.413																																						ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(1066-1068)Gcc>Acc		aurora kinase A							91	84	86					20																	54945360		2203	4300	6503	SO:0001628	intergenic_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54945360C>T	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945360C>T						AURKA_ENST00000395914.1_Missense_Mutation_p.A356T|AURKA_ENST00000347343.2_Missense_Mutation_p.A356T|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395915.3_Missense_Mutation_p.A356T|AURKA_ENST00000395911.1_Missense_Mutation_p.A356T|AURKA_ENST00000312783.6_Missense_Mutation_p.A356T|AURKA_ENST00000395913.3_Missense_Mutation_p.A356T|AURKA_ENST00000371356.2_Missense_Mutation_p.A356T	p.A356T	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		11	1631	-			356			Protein kinase.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.1066G>A	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.046595	0.93740	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	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);	0.000000	0.64402	D	0.000001	D	0.82820	0.5120	M	0.78801	2.425	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.76071	0.94;0.987;0.987	D	0.84786	0.0776	10	0.87932	D	0	-6.2463	19.2213	0.93797	0.0:1.0:0.0:0.0	.	288;356;356	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	T	356	ENSP00000379245:A356T;ENSP00000379250:A356T;ENSP00000216911:A356T;ENSP00000379251:A356T;ENSP00000321591:A356T;ENSP00000360407:A356T;ENSP00000379249:A356T;ENSP00000379247:A356T	ENSP00000321591:A356T	A	-	1	0	AURKA	54378767	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.648000	0.67930	2.615000	0.88500	0.650000	0.86243	GCC		0.413	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		65	300	0	0	0	1	0	65	300					T	54945360	C	T	54945360	1	4	79	0	1	0	0	0	0	0	0	0	1222	797	28	2		2	AURKA	20	54945360	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120564	54945360	8080160	20367	30684											
CSTF1	1477	broad.mit.edu	37	chr20	54974226	54974226	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgtaactggaagcaaggaCggctgcatcaaattatggga	12	7	1	0	rs373049003		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54974226C>T	ENST00000217109.4	+	5	1201	c.849C>T	c.(847-849)gaC>gaT	p.D283D	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	283					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GAAGCAAGGACGGCTGCATCA	0.393																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(847-849)gaC>gaT		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							182	159	166					20																	54974226		2203	4300	6503	SO:0001819	synonymous_variant	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54974226C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.849C>T	20.37:g.54974226C>T						CSTF1_ENST00000493039.1_3'UTR	p.D283D	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		5	1201	+			283					Q5QPD8	Silent	SNP	ENST00000217109.4	37	c.849C>T	CCDS13452.1																																																																																				0.393	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		11	616	0	0	0	1	0	11	616					T	54974226	C	T	54974226	2	4	79	1	0	0	0	0	0	0	0	1	3994	535	19	1		1	CSTF1	20	54974226	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28866	54974226	8051294	20368	30685											
CSTF1	1477	broad.mit.edu	37	chr20	54978770	54978770	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcggttttggtaccggagatCgaccactgactgagccaccc	12	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54978770C>T	ENST00000217109.4	+	6	1635	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	428					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TACCGGAGATCGACCACTGAC	0.582																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(1282-1284)tCg>tTg		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							135	126	129					20																	54978770		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54978770C>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1283C>T	20.37:g.54978770C>T	ENSP00000217109:p.Ser428Leu					CSTF1_ENST00000493039.1_3'UTR	p.S428L	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		6	1635	+			428					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.1283C>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166648	0.57476	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	T	0.57907	0.37	5.38	5.38	0.77491	WD40-repeat-containing domain (1);	0.054825	0.85682	D	0.000000	T	0.48259	0.1490	L	0.38175	1.15	0.58432	D	0.999999	B	0.15930	0.015	B	0.12156	0.007	T	0.43261	-0.9402	10	0.72032	D	0.01	-2.8483	19.5609	0.95371	0.0:1.0:0.0:0.0	.	428	Q05048	CSTF1_HUMAN	L	428;415	ENSP00000217109:S428L	ENSP00000217109:S428L	S	+	2	0	CSTF1	54412177	1.000000	0.71417	0.566000	0.28421	0.362000	0.29581	7.591000	0.82666	2.682000	0.91365	0.644000	0.83932	TCG		0.582	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		23	593	0	0	0	1	0	23	593					T	54978770	C	T	54978770	3	4	79	1	0	0	0	0	1	0	0	0	3994	893	31	1	1301	1	CSTF1	20	54978770	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4544	54978770	8046750	20369	30686											
CASS4	57091	broad.mit.edu	37	chr20	55027901	55027901	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acagtgtccagaacagcccaGatgaccttgagaggtttgtc	11	10	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55027901G>T	ENST00000360314.3	+	6	1894	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	CASS4_ENST00000371336.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	557					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						GAACAGCCCAGATGACCTTGA	0.488																																						ENST00000371336.3																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1669-1671)Gat>Tat		Cas scaffolding protein family member 4							93	84	87					20																	55027901		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027901G>T	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1669G>T	20.37:g.55027901G>T	ENSP00000353462:p.Asp557Tyr					CASS4_ENST00000360314.3_Missense_Mutation_p.D557Y|CASS4_ENST00000434344.1_Intron	p.D557Y	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN			5	1870	+			557					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1669G>T	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875157	0.91664	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.36878	1.23;1.23	6.17	6.17	0.99709	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.69840	-0.5036	10	0.87932	D	0	-26.0262	20.8794	0.99867	0.0:0.0:1.0:0.0	.	503;557;557	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Y	557	ENSP00000353462:D557Y;ENSP00000360387:D557Y	ENSP00000353462:D557Y	D	+	1	0	CASS4	54461308	1.000000	0.71417	0.962000	0.40283	0.994000	0.84299	8.912000	0.92726	2.941000	0.99782	0.655000	0.94253	GAT		0.488	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		28	309	1	0	2.12542e-12	1	2.28249e-12	28	309					T	55027901	G	T	55027901	3	4	79	1	0	0	0	0	1	0	0	0	2690	942	33	3	1687	3	CASS4	20	55027901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49131	55027901	7997619	20370	30687											
TFAP2C	7022	broad.mit.edu	37	chr20	55206408	55206408	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actttccccctccctaccagCagctggcctactcccagtcg	6	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55206408C>T	ENST00000201031.2	+	2	439	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	66	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCCCTACCAGCAGCTGGCCTA	0.697																																						ENST00000201031.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(196-198)Cag>Tag		transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)							31	31	31					20																	55206408		2203	4300	6503	SO:0001587	stop_gained	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206408C>T		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.196C>T	20.37:g.55206408C>T	ENSP00000201031:p.Gln66*					TFAP2C_ENST00000544508.1_5'UTR	p.Q66*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	439	+			66			Gln/Pro-rich (transactivation domain).		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Nonsense_Mutation	SNP	ENST00000201031.2	37	c.196C>T	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	37	6.629559	0.97718	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	.	.	.	5.67	5.67	0.87782	.	0.215838	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-23.8604	19.7658	0.96340	0.0:1.0:0.0:0.0	.	.	.	.	X	66;54	.	ENSP00000201031:Q66X	Q	+	1	0	TFAP2C	54639815	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.977000	0.76141	2.683000	0.91414	0.561000	0.74099	CAG		0.697	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		53	218	0	0	0	1	0	53	218					T	55206408	C	T	55206408	4	4	79	1	0	0	0	0	0	1	0	0	15841	711	25	2	202	2	TFAP2C	20	55206408	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	178507	55206408	7819112	20371	30688											
BMP7	655	broad.mit.edu	37	chr20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcagggcttgggcaccGtttccgggttgatgaagtgg	16	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000395864.3_Missense_Mutation_p.T324M|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(1168-1170)aCg>aTg		bone morphogenetic protein 7							105	86	92					20																	55746142		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55746142G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1169C>T	20.37:g.55746142G>A	ENSP00000379204:p.Thr390Met					BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	p.T390M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		7	1674	-	all_lung(29;0.0133)|Melanoma(10;0.242)		390					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.1169C>T	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230581	0.79688	.	.	ENSG00000101144	ENST00000395863;ENST00000395864	D;D	0.84070	-1.8;-1.8	5.21	5.21	0.72293	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	L	0.43923	1.385	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.56960	0.81;0.743	D	0.85892	0.1429	10	0.44086	T	0.13	.	18.7685	0.91882	0.0:0.0:1.0:0.0	.	324;390	B1AKZ9;P18075	.;BMP7_HUMAN	M	390;324	ENSP00000379204:T390M;ENSP00000379205:T324M	ENSP00000379204:T390M	T	-	2	0	BMP7	55179549	0.999000	0.42202	0.200000	0.23457	0.965000	0.64279	3.270000	0.51600	2.415000	0.81967	0.655000	0.94253	ACG		0.517	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			48	210	0	0	0	1	0	48	210					A	55746142	G	A	55746142	3	1	79	1	0	0	0	0	1	0	0	0	1467	1145	40	1	130	1	BMP7	20	55746142	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	539734	55746142	7279378	20372	30689											
RAE1	8480	broad.mit.edu	37	chr20	55949767	55949767	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccagaacaaaactaaaaacTtcggaacagttagatcagcc	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55949767T>C	ENST00000395841.2	+	11	1350	c.930T>C	c.(928-930)acT>acC	p.T310T	RAE1_ENST00000527947.1_Silent_p.T310T|RAE1_ENST00000371242.2_Silent_p.T310T|RAE1_ENST00000395840.2_Silent_p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	310					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AACTAAAAACTTCGGAACAGT	0.453																																						ENST00000395841.2																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21						c.(928-930)acT>acC		ribonucleic acid export 1							149	136	140					20																	55949767		2203	4300	6503	SO:0001819	synonymous_variant	8480				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	g.chr20:55949767T>C	U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.930T>C	20.37:g.55949767T>C						RAE1_ENST00000395840.2_Silent_p.T310T|RAE1_ENST00000371242.2_Silent_p.T310T|RAE1_ENST00000527947.1_Silent_p.T310T	p.T310T	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)		11	1350	+	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		310					A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Silent	SNP	ENST00000395841.2	37	c.930T>C	CCDS13458.1																																																																																				0.453	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079842.2			15	614	0	0	0	1	0	15	614					C	55949767	T	C	55949767	2	2	79	1	0	0	0	0	0	0	0	1	13048	1596	56	4		4	RAE1	20	55949767	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	203625	55949767	7075753	20373	30690											
PCK1	5105	broad.mit.edu	37	chr20	56139438	56139438	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagaataaggagtggaGctcagaggatggtgtgtccc	16	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139438G>T	ENST00000319441.4	+	7	1339	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	392					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)			AAGGAGTGGAGCTCAGAGGAT	0.582																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1174-1176)aGc>aTc		phosphoenolpyruvate carboxykinase 1 (soluble)							82	73	76					20																	56139438		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139438G>T		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.1175G>T	20.37:g.56139438G>T	ENSP00000319814:p.Ser392Ile					PCK1_ENST00000543666.1_Missense_Mutation_p.S75I|PCK1_ENST00000535860.1_Missense_Mutation_p.S260I	p.S392I	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		7	1339	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		392					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1175G>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	8.620	0.891225	0.17613	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666;ENST00000535860	T;T;T	0.04551	3.6;3.6;3.6	5.2	-3.57	0.04612	.	0.544994	0.22389	N	0.060701	T	0.04363	0.0120	L	0.42632	1.34	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.35624	-0.9781	10	0.59425	D	0.04	-6.392	10.5693	0.45192	0.257:0.5833:0.1597:0.0	.	75;392	B4DT64;P35558	.;PCKGC_HUMAN	I	74;392;75;260	ENSP00000319814:S392I;ENSP00000445767:S75I;ENSP00000444342:S260I	ENSP00000319814:S392I	S	+	2	0	PCK1	55572844	0.001000	0.12720	0.001000	0.08648	0.212000	0.24457	-0.015000	0.12634	-0.255000	0.09486	0.655000	0.94253	AGC		0.582	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			57	252	1	0	9.86064e-34	1	1.16979e-33	57	252					T	56139438	G	T	56139438	3	4	79	1	0	0	0	0	1	0	0	0	11623	971	34	3	1197	3	PCK1	20	56139438	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	189671	56139438	6886082	20374	30691											
PCK1	5105	broad.mit.edu	37	chr20	56139544	56139544	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtcttataggggaacCttgtgcccaccccaactcga	8	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139544C>T	ENST00000319441.4	+	8	1357	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	398					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)			ATAGGGGAACCTTGTGCCCAC	0.597																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(1192-1194)cCt>cTt		phosphoenolpyruvate carboxykinase 1 (soluble)							89	90	90					20																	56139544		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56139544C>T		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.1193C>T	20.37:g.56139544C>T	ENSP00000319814:p.Pro398Leu					PCK1_ENST00000543666.1_Missense_Mutation_p.P81L|PCK1_ENST00000535860.1_Silent_p.T295T	p.P398L	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		8	1357	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		398					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.1193C>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693727	0.68386	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	T;T	0.13307	2.6;2.6	5.65	5.65	0.86999	.	0.046303	0.85682	D	0.000000	T	0.30355	0.0762	M	0.88570	2.965	0.80722	D	1	B;B	0.34372	0.057;0.451	B;B	0.37508	0.07;0.252	T	0.11991	-1.0565	10	0.45353	T	0.12	-14.1572	19.7244	0.96157	0.0:1.0:0.0:0.0	.	81;398	B4DT64;P35558	.;PCKGC_HUMAN	L	80;398;81	ENSP00000319814:P398L;ENSP00000445767:P81L	ENSP00000319814:P398L	P	+	2	0	PCK1	55572950	0.994000	0.37717	0.842000	0.33263	0.714000	0.41099	7.345000	0.79337	2.659000	0.90383	0.655000	0.94253	CCT		0.597	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			96	378	0	0	0	1	0	96	378					T	56139544	C	T	56139544	3	4	79	1	0	0	0	0	1	0	0	0	11623	681	24	2	1219	2	PCK1	20	56139544	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106	56139544	6885976	20375	30692											
PMEPA1	56937	broad.mit.edu	37	chr20	56227286	56227286	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgacctcgctgtaggtgggCggcggcccctccatgcgccc	14	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227286C>A	ENST00000341744.3	-	4	1006	c.687G>T	c.(685-687)ccG>ccT	p.P229P	PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000395814.1_Silent_p.P179P|PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000265626.4_Silent_p.P179P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	229					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						TGTAGGTGGGCGGCGGCCCCT	0.716																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(685-687)ccG>ccT		prostate transmembrane protein, androgen induced 1							13	16	15					20																	56227286		2193	4289	6482	SO:0001819	synonymous_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227286C>A	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.687G>T	20.37:g.56227286C>A						PMEPA1_ENST00000265626.4_Silent_p.P179P|PMEPA1_ENST00000347215.4_Silent_p.P194P|PMEPA1_ENST00000395816.3_Silent_p.P179P|PMEPA1_ENST00000395814.1_Silent_p.P179P	p.P229P	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	1006	-			229					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	c.687G>T	CCDS13463.1																																																																																				0.716	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		29	104	1	0	4.59853e-10	1	4.86106e-10	29	104					A	56227286	C	A	56227286	2	1	79	1	0	0	0	0	0	0	0	1	12174	755	27	3		3	PMEPA1	20	56227286	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87742	56227286	6798234	20376	30693											
PMEPA1	56937	broad.mit.edu	37	chr20	56227318	56227318	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catgcgcccgccgctgccgtAgcacgtggcgctgatgcccg	14	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227318A>T	ENST00000341744.3	-	4	974	c.655T>A	c.(655-657)Tac>Aac	p.Y219N	PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	219					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						CCGCTGCCGTAGCACGTGGCG	0.682																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(655-657)Tac>Aac		prostate transmembrane protein, androgen induced 1							20	24	23					20																	56227318		2199	4296	6495	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227318A>T	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.655T>A	20.37:g.56227318A>T	ENSP00000345826:p.Tyr219Asn					PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y169N|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y184N|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y169N|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y169N	p.Y219N	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	974	-			219					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.655T>A	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	A	18.50	3.636707	0.67130	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.44881	0.91;0.92;0.92;0.92;0.92;0.94	5.53	5.53	0.82687	.	0.073958	0.56097	D	0.000029	T	0.59074	0.2167	M	0.64997	1.995	0.58432	D	0.999995	D;D	0.67145	0.992;0.996	P;D	0.64237	0.826;0.923	T	0.56920	-0.7899	10	0.33940	T	0.23	-37.163	15.6511	0.77095	1.0:0.0:0.0:0.0	.	184;219	Q5JY37;Q969W9	.;PMEPA_HUMAN	N	219;184;169;169;169;191	ENSP00000345826:Y219N;ENSP00000344014:Y184N;ENSP00000379161:Y169N;ENSP00000265626:Y169N;ENSP00000379159:Y169N;ENSP00000401506:Y191N	ENSP00000265626:Y169N	Y	-	1	0	PMEPA1	55660724	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.663000	0.91134	2.093000	0.63338	0.528000	0.53228	TAC		0.682	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		45	168	0	0	0	1	0	45	168					T	56227318	A	T	56227318	3	4	79	1	0	0	0	0	1	0	0	0	12174	420	15	5	212	5	PMEPA1	20	56227318	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	32	56227318	6798202	20377	30694											
PMEPA1	56937	broad.mit.edu	37	chr20	56227521	56227521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gctcctccccgtctgacagcGagatggtgggtggcaggtcg	16	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227521G>A	ENST00000341744.3	-	4	771	c.452C>T	c.(451-453)tCg>tTg	p.S151L	PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	151					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						GTCTGACAGCGAGATGGTGGG	0.701																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(451-453)tCg>tTg		prostate transmembrane protein, androgen induced 1							35	37	36					20																	56227521		2203	4300	6503	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227521G>A	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.452C>T	20.37:g.56227521G>A	ENSP00000345826:p.Ser151Leu					PMEPA1_ENST00000265626.4_Missense_Mutation_p.S101L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S116L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S101L|PMEPA1_ENST00000395814.1_Missense_Mutation_p.S101L	p.S151L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	771	-			151					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.452C>T	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797080	0.90453	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.53423	0.78;0.8;0.8;0.8;0.8;0.82;0.62	5.43	5.43	0.79202	.	0.140044	0.48767	D	0.000177	T	0.69233	0.3088	M	0.75777	2.31	0.54753	D	0.999989	D;D	0.89917	1.0;0.997	D;P	0.65773	0.938;0.851	T	0.72484	-0.4279	10	0.72032	D	0.01	-23.06	19.2379	0.93869	0.0:0.0:1.0:0.0	.	116;151	Q5JY37;Q969W9	.;PMEPA_HUMAN	L	151;116;101;101;101;123;208	ENSP00000345826:S151L;ENSP00000344014:S116L;ENSP00000379161:S101L;ENSP00000265626:S101L;ENSP00000379159:S101L;ENSP00000401506:S123L;ENSP00000379164:S208L	ENSP00000265626:S101L	S	-	2	0	PMEPA1	55660927	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	7.725000	0.84808	2.537000	0.85549	0.655000	0.94253	TCG		0.701	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		40	119	0	0	0	1	0	40	119					A	56227521	G	A	56227521	3	1	79	1	0	0	0	0	1	0	0	0	12174	1059	37	1	415	1	PMEPA1	20	56227521	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203	56227521	6797999	20378	30695											
VAPB	9217	broad.mit.edu	37	chr20	57016098	57016098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaatgtaagaggctgcaaGgtgaagttcagaggctacgg	15	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57016098G>A	ENST00000475243.1	+	5	870	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	178					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GAGGCTGCAAGGTGAAGTTCA	0.413																																						ENST00000475243.1																			0				kidney(2)|lung(3)|prostate(1)	6						c.(532-534)Ggt>Agt		VAMP (vesicle-associated membrane protein)-associated protein B and C							94	88	90					20																	57016098		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:57016098G>A	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.532G>A	20.37:g.57016098G>A	ENSP00000417175:p.Gly178Ser					VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	p.G178S	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		5	870	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		178					A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.532G>A	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	3.469	-0.108439	0.06924	.	.	ENSG00000124164	ENST00000475243	T	0.30981	1.51	5.49	2.51	0.30379	.	0.222846	0.47093	N	0.000241	T	0.11410	0.0278	N	0.08118	0	0.09310	N	0.999994	B;B	0.10296	0.0;0.003	B;B	0.09377	0.004;0.001	T	0.31308	-0.9948	10	0.09338	T	0.73	-9.6621	4.6963	0.12806	0.2107:0.0:0.5376:0.2517	.	55;178	B4DNS4;O95292	.;VAPB_HUMAN	S	178	ENSP00000417175:G178S	ENSP00000417175:G178S	G	+	1	0	VAPB	56449504	0.967000	0.33354	0.021000	0.16686	0.984000	0.73092	0.859000	0.27858	0.297000	0.22615	-0.157000	0.13467	GGT		0.413	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			46	219	0	0	0	1	0	46	219					A	57016098	G	A	57016098	3	1	79	1	0	0	0	0	1	0	0	0	17176	1000	35	2	550	2	VAPB	20	57016098	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	788577	57016098	6009422	20379	30696											
APCDD1L	164284	broad.mit.edu	37	chr20	57036492	57036492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgggcgcacctcgcaccccGagctgacccaccagccgccc	10	22	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57036492G>A	ENST00000371149.3	-	4	1090	c.860C>T	c.(859-861)tCg>tTg	p.S287L	APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L|APCDD1L_ENST00000491015.1_5'UTR	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(859-861)tCg>tTg		adenomatosis polyposis coli down-regulated 1-like							10	10	10					20																	57036492		2164	4254	6418	SO:0001583	missense	164284					integral to membrane		g.chr20:57036492G>A	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.860C>T	20.37:g.57036492G>A	ENSP00000360191:p.Ser287Leu					APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298L|APCDD1L_ENST00000491015.1_5'UTR	p.S287L	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1090	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		287						Missense_Mutation	SNP	ENST00000371149.3	37	c.860C>T	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	G	1.949	-0.441587	0.04604	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.18174	2.23;2.23	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.13756	0.0333	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.011;0.006	B;B	0.08055	0.003;0.002	T	0.23619	-1.0183	10	0.23302	T	0.38	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	L	287;298	ENSP00000360191:S287L;ENSP00000413261:S298L	ENSP00000360191:S287L	S	-	2	0	APCDD1L	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG		0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		14	63	0	0	0	1	0	14	63					A	57036492	G	A	57036492	3	1	79	1	0	0	0	0	1	0	0	0	766	1059	37	1	649	1	APCDD1L	20	57036492	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20394	57036492	5989028	20380	30697											
STX16	8675	broad.mit.edu	37	chr20	57248758	57248758	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaagatggtttgaaacaGcttcacaaggtaatatgtct	9	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57248758G>A	ENST00000371141.4	+	8	1588	c.864G>A	c.(862-864)caG>caA	p.Q288Q	STX16_ENST00000358029.4_Silent_p.Q284Q|STX16_ENST00000359617.4_Silent_p.Q235Q|STX16_ENST00000361770.5_Silent_p.Q271Q|STX16_ENST00000371132.4_Silent_p.Q267Q|STX16_ENST00000361830.3_Silent_p.Q288Q|STX16_ENST00000355957.5_Silent_p.Q271Q|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Silent_p.Q288Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	288	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				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)			GTTTGAAACAGCTTCACAAGG	0.353																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(862-864)caG>caA		syntaxin 16							94	84	87					20																	57248758		2203	4300	6503	SO:0001819	synonymous_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57248758G>A	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.864G>A	20.37:g.57248758G>A						STX16_ENST00000371132.4_Silent_p.Q267Q|STX16_ENST00000361770.5_Silent_p.Q271Q|STX16_ENST00000496003.1_3'UTR|STX16-NPEPL1_ENST00000530122.1_Silent_p.Q288Q|STX16_ENST00000358029.4_Silent_p.Q284Q|STX16_ENST00000361830.3_Silent_p.Q288Q|STX16_ENST00000355957.5_Silent_p.Q271Q|STX16_ENST00000359617.4_Silent_p.Q235Q	p.Q288Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		8	1588	+	all_lung(29;0.0175)		288			t-SNARE coiled-coil homology.		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	c.864G>A	CCDS13468.1																																																																																				0.353	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		32	165	0	0	0	1	0	32	165					A	57248758	G	A	57248758	2	1	79	1	0	0	0	0	0	0	0	1	15391	962	34	2		2	STX16	20	57248758	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212266	57248758	5776762	20381	30698											
GNAS	2778	broad.mit.edu	37	chr20	57415518	57415518	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgagaccgagtccgaaatCgagtccgagaccgacttcga	12	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415518C>T	ENST00000313949.7	+	1	746	c.357C>T	c.(355-357)atC>atT	p.I119I	GNAS_ENST00000371075.3_Silent_p.I119I|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Silent_p.I119I|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)			AGTCCGAAATCGAGTCCGAGA	0.637			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(355-357)atC>atT		GNAS complex locus							102	95	97					20																	57415518		2203	4300	6503	SO:0001819	synonymous_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415518C>T	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.357C>T	20.37:g.57415518C>T		TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Silent_p.I119I|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.I119I|GNAS-AS1_ENST00000443966.1_RNA	p.I119I			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	746	+	all_lung(29;0.0104)		134					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.357C>T	CCDS13471.1																																																																																				0.637	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		97	472	0	0	0	1	0	97	472					T	57415518	C	T	57415518	2	4	79	1	0	0	0	0	0	0	0	1	6539	874	31	1		1	GNAS	20	57415518	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166760	57415518	5610002	20382	30699											
GNAS	2778	broad.mit.edu	37	chr20	57415547	57415547	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgacttcgagaccgagcCtgagaccgcccccaccactg	10	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415547C>A	ENST00000313949.7	+	1	775	c.386C>A	c.(385-387)cCt>cAt	p.P129H	GNAS_ENST00000371075.3_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P129H|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)			GAGACCGAGCCTGAGACCGCC	0.647			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(385-387)cCt>cAt		GNAS complex locus							91	83	86					20																	57415547		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415547C>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.386C>A	20.37:g.57415547C>A	ENSP00000323571:p.Pro129His	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P129H|GNAS-AS1_ENST00000443966.1_RNA	p.P129H			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	775	+	all_lung(29;0.0104)		144					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.386C>A	CCDS13471.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131731	0.37630	.	.	ENSG00000087460	ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.	.	.	4.99	4.05	0.47172	.	.	.	.	.	T	0.28366	0.0701	N	0.14661	0.345	0.26043	N	0.981589	P	0.51449	0.945	P	0.48488	0.579	T	0.05162	-1.0902	8	0.42905	T	0.14	.	9.589	0.39534	0.0:0.9016:0.0:0.0984	.	129	O95467	GNAS3_HUMAN	H	129;129;129;50	.	ENSP00000323571:P129H	P	+	2	0	GNAS	56848942	0.015000	0.18098	0.542000	0.28115	0.964000	0.63967	2.125000	0.42016	1.248000	0.43934	0.585000	0.79938	CCT		0.647	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		100	487	1	0	6.00573e-27	1	6.93999e-27	100	487					A	57415547	C	A	57415547	3	1	79	1	0	0	0	0	1	0	0	0	6539	681	24	3	388	3	GNAS	20	57415547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29	57415547	5609973	20383	30700											
GNAS	2778	broad.mit.edu	37	chr20	57429152	57429152	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcgcctcccctctgggtcCcaggcgccatcggcagccca	11	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429152C>T	ENST00000371100.4	+	1	1384	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.S214S|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)			CCTCTGGGTCCCAGGCGCCAT	0.667			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(832-834)Cca>Tca		GNAS complex locus							13	15	14					20																	57429152		1846	4021	5867	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429152C>T	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.832C>T	20.37:g.57429152C>T	ENSP00000360141:p.Pro278Ser	TSP Lung(22;0.16)				GNAS_ENST00000306120.3_Silent_p.S214S|GNAS_ENST00000371102.4_Missense_Mutation_p.P278S|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.P278S|GNAS_ENST00000371075.3_Intron	p.P278S	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1384	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.832C>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316749	0.10845	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88354	-2.37;-2.37	4.03	1.02	0.19986	.	3.592490	0.01353	N	0.011966	T	0.80592	0.4652	N	0.19112	0.55	0.49051	D	0.999745	B	0.20550	0.046	B	0.12156	0.007	T	0.63497	-0.6624	9	.	.	.	.	6.0166	0.19607	0.0:0.6647:0.0:0.3353	.	278	Q5JWF2	GNAS1_HUMAN	S	278	ENSP00000360141:P278S;ENSP00000360143:P278S	.	P	+	1	0	GNAS	56862547	0.381000	0.25140	0.288000	0.24862	0.073000	0.16967	0.624000	0.24462	0.270000	0.21984	0.561000	0.74099	CCA		0.667	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		22	131	0	0	0	1	0	22	131					T	57429152	C	T	57429152	3	4	79	1	0	0	0	0	1	0	0	0	6539	623	22	2	1576	2	GNAS	20	57429152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13605	57429152	5596368	20384	30701											
GNAS	2778	broad.mit.edu	37	chr20	57429164	57429164	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtcccaggcgccatcGgcagcccatcccaagaggct	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429164G>T	ENST00000371100.4	+	1	1396	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.G282C|GNAS_ENST00000371099.2_Missense_Mutation_p.G282C|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Silent_p.S218S|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)			AGGCGCCATCGGCAGCCCATC	0.692			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(844-846)Ggc>Tgc		GNAS complex locus							14	15	15					20																	57429164		1818	3998	5816	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429164G>T	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.844G>T	20.37:g.57429164G>T	ENSP00000360141:p.Gly282Cys	TSP Lung(22;0.16)				GNAS_ENST00000306120.3_Silent_p.S218S|GNAS_ENST00000371102.4_Missense_Mutation_p.G282C|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.G282C|GNAS_ENST00000371075.3_Intron	p.G282C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1396	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.844G>T	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759862	0.15846	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.89415	-2.51;-2.51	4.03	-1.54	0.08584	.	6.087180	0.00447	N	0.000089	D	0.84933	0.5582	N	0.19112	0.55	0.19300	N	0.999974	D	0.63880	0.993	P	0.51866	0.682	T	0.74318	-0.3704	10	0.62326	D	0.03	.	4.2544	0.10710	0.4048:0.1677:0.4276:0.0	.	282	Q5JWF2	GNAS1_HUMAN	C	282	ENSP00000360141:G282C;ENSP00000360143:G282C	ENSP00000360140:G282C	G	+	1	0	GNAS	56862559	0.004000	0.15560	0.020000	0.16555	0.425000	0.31504	0.134000	0.15932	-0.215000	0.10063	-0.304000	0.09214	GGC		0.692	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		28	139	1	0	1.39806e-14	1	1.52044e-14	28	139					T	57429164	G	T	57429164	3	4	79	1	0	0	0	0	1	0	0	0	6539	1116	39	3	1588	3	GNAS	20	57429164	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12	57429164	5596356	20385	30702											
GNAS	2778	broad.mit.edu	37	chr20	57484236	57484236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctggacaagatcgacGtgatcaagcaggctgactat	11	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57484236G>A	ENST00000371085.3	+	7	974	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371100.4_Missense_Mutation_p.V827M	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	184					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)			CAAGATCGACGTGATCAAGCA	0.512			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2479-2481)Gtg>Atg		GNAS complex locus							256	250	252					20																	57484236		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484236G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.550G>A	20.37:g.57484236G>A	ENSP00000360126:p.Val184Met	TSP Lung(22;0.16)				GNAS_ENST00000265620.7_Missense_Mutation_p.V169M|GNAS_ENST00000371102.4_Missense_Mutation_p.V813M|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.V170M|GNAS_ENST00000371095.3_Missense_Mutation_p.V170M|GNAS_ENST00000371085.3_Missense_Mutation_p.V184M|GNAS_ENST00000354359.7_Missense_Mutation_p.V185M|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR	p.V827M	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		7	3031	+	all_lung(29;0.0104)		184					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2479G>A	CCDS13472.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.938338|2.938338	0.52972|0.52972	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	.|D;D;D;D;D;D;D	.|0.88354	.|-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.94|4.94	2.98|2.98	0.34508|0.34508	.|G protein alpha subunit, helical insertion (4);	.|0.238750	.|0.39687	.|N	.|0.001297	D|D	0.89935|0.89935	0.6859|0.6859	L|L	0.51422|0.51422	1.61|1.61	0.42872|0.42872	D|D	0.994142|0.994142	.|P;P;B;D	.|0.76494	.|0.65;0.76;0.412;0.999	.|B;B;B;D	.|0.69142	.|0.221;0.322;0.141;0.962	D|D	0.88589|0.88589	0.3142|0.3142	5|10	.|0.66056	.|D	.|0.02	.|.	4.7344|4.7344	0.12981|0.12981	0.407:0.0:0.593:0.0|0.407:0.0:0.593:0.0	.|.	.|184;185;169;827	.|P63092;A6NI00;P63092-3;Q5JWF2	.|GNAS2_HUMAN;.;.;GNAS1_HUMAN	H|M	198|827;813;170;184;185;169;170	.|ENSP00000360141:V827M;ENSP00000360143:V813M;ENSP00000360136:V170M;ENSP00000360126:V184M;ENSP00000346328:V185M;ENSP00000265620:V169M;ENSP00000304472:V170M	.|ENSP00000265620:V169M	R|V	+|+	2|1	0|0	GNAS|GNAS	56917631|56917631	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.849000|0.849000	0.48306|0.48306	3.848000|3.848000	0.55903|0.55903	1.392000|1.392000	0.46585|0.46585	-0.150000|-0.150000	0.13652|0.13652	CGT|GTG		0.512	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		62	1413	0	0	0	1	0	62	1413					A	57484236	G	A	57484236	3	1	79	1	0	0	0	0	1	0	0	0	6539	1145	40	1	3393	1	GNAS	20	57484236	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55072	57484236	5541284	20386	30703											
TH1L	51497	broad.mit.edu	37	chr20	57566038	57566038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcctgccaggctctcGgggccatgctgtccaaagga	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57566038G>A	ENST00000344018.3	+	8	916	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	NELFCD_ENST00000602795.1_Missense_Mutation_p.G306R			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	297					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CCAGGCTCTCGGGGCCATGCT	0.562																																						ENST00000602795.1																			0											c.(916-918)Ggg>Agg		negative elongation factor complex member C/D							87	82	84					20																	57566038		2203	4300	6503	SO:0001583	missense	51497							g.chr20:57566038G>A	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.889G>A	20.37:g.57566038G>A	ENSP00000342300:p.Gly297Arg					NELFCD_ENST00000344018.3_Missense_Mutation_p.G297R	p.G306R							8	964	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	ENST00000344018.3	37	c.916G>A		.	.	.	.	.	.	.	.	.	.	G	24.5	4.535348	0.85812	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57533	-0.7795	9	0.16896	T	0.51	-43.4778	20.3606	0.98856	0.0:0.0:1.0:0.0	.	306;297	E1P5H4;Q8IXH7	.;NELFD_HUMAN	R	297	.	ENSP00000342300:G297R	G	+	1	0	TH1L	56999433	1.000000	0.71417	0.731000	0.30826	0.655000	0.38815	9.751000	0.98889	2.817000	0.96982	0.557000	0.71058	GGG		0.562	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		122	415	0	0	0	1	0	122	415					A	57566038	G	A	57566038	3	1	79	1	0	0	0	0	1	0	0	0	15891	1116	39	1	919	1	TH1L	20	57566038	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81802	57566038	5459482	20387	30704											
TH1L	51497	broad.mit.edu	37	chr20	57567047	57567047	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggcctctgaactagtggcaGaattgagcacactttatcag	11	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57567047G>T	ENST00000344018.3	+	10	1255	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Nonsense_Mutation_p.E419*			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	410					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											ACTAGTGGCAGAATTGAGCAC	0.413																																						ENST00000602795.1																			0											c.(1255-1257)Gaa>Taa		negative elongation factor complex member C/D							148	140	143					20																	57567047		2203	4300	6503	SO:0001587	stop_gained	51497							g.chr20:57567047G>T	AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1228G>T	20.37:g.57567047G>T	ENSP00000342300:p.Glu410*					NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Nonsense_Mutation_p.E410*	p.E419*							10	1303	+								B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Nonsense_Mutation	SNP	ENST00000344018.3	37	c.1255G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.531514	0.97641	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-37.6074	19.4217	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	410	.	ENSP00000342300:E410X	E	+	1	0	TH1L	57000442	1.000000	0.71417	0.290000	0.24890	0.971000	0.66376	9.701000	0.98710	2.605000	0.88082	0.655000	0.94253	GAA		0.413	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198976		60	325	1	0	2.91325e-39	1	3.52141e-39	60	325					T	57567047	G	T	57567047	4	4	79	1	0	0	0	0	0	1	0	0	15891	943	33	3	1266	3	TH1L	20	57567047	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1009	57567047	5458473	20388	30705											
TUBB1	81027	broad.mit.edu	37	chr20	57598802	57598802	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccaaaggccactacaCggagggagccgagctgatcg	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598802C>T	ENST00000217133.1	+	4	589	c.320C>T	c.(319-321)aCg>aTg	p.T107M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	107					'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)	GGCCACTACACGGAGGGAGCC	0.577																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(319-321)aCg>aTg		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						80	88	85					20																	57598802		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598802C>T	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.320C>T	20.37:g.57598802C>T	ENSP00000217133:p.Thr107Met						p.T107M	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	589	+	all_lung(29;0.00711)		107						Missense_Mutation	SNP	ENST00000217133.1	37	c.320C>T	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529552	0.64860	.	.	ENSG00000101162	ENST00000217133	T	0.70282	-0.47	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.91379	0.7280	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94935	0.8086	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	.	107	Q9H4B7	TBB1_HUMAN	M	107	ENSP00000217133:T107M	ENSP00000217133:T107M	T	+	2	0	TUBB1	57032197	1.000000	0.71417	0.961000	0.40146	0.364000	0.29643	7.784000	0.85713	2.537000	0.85549	0.655000	0.94253	ACG		0.577	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		136	485	0	0	0	1	0	136	485					T	57598802	C	T	57598802	3	4	79	1	0	0	0	0	1	0	0	0	16807	536	19	1	334	1	TUBB1	20	57598802	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31755	57598802	5426718	20389	30706											
TUBB1	81027	broad.mit.edu	37	chr20	57598897	57598897	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcttccagatcgtccactccCtgggcgggggcacaggctcc	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598897C>A	ENST00000217133.1	+	4	684	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	139					'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)	CGTCCACTCCCTGGGCGGGGG	0.592																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(415-417)Ctg>Atg		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						82	92	88					20																	57598897		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57598897C>A	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.415C>A	20.37:g.57598897C>A	ENSP00000217133:p.Leu139Met						p.L139M	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	684	+	all_lung(29;0.00711)		139						Missense_Mutation	SNP	ENST00000217133.1	37	c.415C>A	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669664	0.67814	.	.	ENSG00000101162	ENST00000217133	T	0.73047	-0.71	5.39	3.44	0.39384	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.85945	2.785	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.85763	0.1350	10	0.87932	D	0	.	11.2654	0.49108	0.0:0.8489:0.0:0.1511	.	139	Q9H4B7	TBB1_HUMAN	M	139	ENSP00000217133:L139M	ENSP00000217133:L139M	L	+	1	2	TUBB1	57032292	1.000000	0.71417	0.895000	0.35142	0.967000	0.64934	4.973000	0.63763	1.290000	0.44636	-0.136000	0.14681	CTG		0.592	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		144	565	1	0	6.24756e-60	1	7.85099e-60	144	565					A	57598897	C	A	57598897	3	1	79	1	0	0	0	0	1	0	0	0	16807	680	24	3	429	3	TUBB1	20	57598897	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	95	57598897	5426623	20390	30707											
TUBB1	81027	broad.mit.edu	37	chr20	57599572	57599572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccccgggggctgagcatgGccgccaccttcattggcaac	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57599572G>A	ENST00000217133.1	+	4	1359	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	364					'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)	GCTGAGCATGGCCGCCACCTT	0.547																																						ENST00000217133.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16						c.(1090-1092)Gcc>Acc		tubulin, beta 1 class VI	Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)						46	45	45					20																	57599572		2203	4300	6503	SO:0001583	missense	81027				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	g.chr20:57599572G>A	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.1090G>A	20.37:g.57599572G>A	ENSP00000217133:p.Ala364Thr						p.A364T	NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	Colorectal(105;0.109)		4	1359	+	all_lung(29;0.00711)		364						Missense_Mutation	SNP	ENST00000217133.1	37	c.1090G>A	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098505	0.76870	.	.	ENSG00000101162	ENST00000217133	D	0.84800	-1.9	5.54	5.54	0.83059	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	M	0.85710	2.77	0.54753	D	0.999988	P	0.46859	0.885	P	0.48770	0.589	D	0.91859	0.5498	10	0.87932	D	0	.	18.4559	0.90720	0.0:0.0:1.0:0.0	.	364	Q9H4B7	TBB1_HUMAN	T	364	ENSP00000217133:A364T	ENSP00000217133:A364T	A	+	1	0	TUBB1	57032967	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	2.904000	0.48719	2.614000	0.88457	0.655000	0.94253	GCC		0.547	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1	NM_030773		55	196	0	0	0	1	0	55	196					A	57599572	G	A	57599572	3	1	79	1	0	0	0	0	1	0	0	0	16807	1203	42	2	1104	2	TUBB1	20	57599572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	675	57599572	5425948	20391	30708											
ZNF831	128611	broad.mit.edu	37	chr20	57766263	57766263	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcccatcccactgtaCcacacggtgcctcccggggg	11	19	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766263C>T	ENST00000371030.2	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	63	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)					TCCCACTGTACCACACGGTGC	0.697																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(187-189)taC>taT		zinc finger protein 831							12	14	13					20																	57766263		1875	4076	5951	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766263C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.189C>T	20.37:g.57766263C>T							p.Y63Y	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	189	+	all_lung(29;0.0085)		63			Pro-rich.		Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.189C>T	CCDS42894.1																																																																																				0.697	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		32	144	0	0	0	1	0	32	144					T	57766263	C	T	57766263	2	4	79	1	0	0	0	0	0	0	0	1	18238	518	18	2		2	ZNF831	20	57766263	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166691	57766263	5259257	20392	30709											
ZNF831	128611	broad.mit.edu	37	chr20	57766678	57766678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgcacctcaacaactcccggCtgtcctcagagtccgagggc	10	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766678C>A	ENST00000371030.2	+	1	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	202							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)					CAACTCCCGGCTGTCCTCAGA	0.672																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(604-606)Ctg>Atg		zinc finger protein 831							37	45	42					20																	57766678		2012	4169	6181	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766678C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.604C>A	20.37:g.57766678C>A	ENSP00000360069:p.Leu202Met						p.L202M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	604	+	all_lung(29;0.0085)		202					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.604C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389185	0.42410	.	.	ENSG00000124203	ENST00000371030	T	0.06687	3.27	5.41	4.46	0.54185	.	.	.	.	.	T	0.11537	0.0281	N	0.24115	0.695	0.25713	N	0.985465	D	0.62365	0.991	P	0.55923	0.787	T	0.13737	-1.0498	9	0.87932	D	0	-1.5935	7.5748	0.27928	0.1637:0.7519:0.0:0.0844	.	202	Q5JPB2	ZN831_HUMAN	M	202	ENSP00000360069:L202M	ENSP00000360069:L202M	L	+	1	2	ZNF831	57200073	0.014000	0.17966	0.631000	0.29282	0.837000	0.47467	0.966000	0.29331	1.255000	0.44051	0.561000	0.74099	CTG		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		101	466	1	0	7.4264e-54	1	9.26213e-54	101	466					A	57766678	C	A	57766678	3	1	79	1	0	0	0	0	1	0	0	0	18238	796	28	3	606	3	ZNF831	20	57766678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415	57766678	5258842	20393	30710											
ZNF831	128611	broad.mit.edu	37	chr20	57766948	57766948	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtcacctgggctcccaGcggccagcacacaaccctgg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766948G>T	ENST00000371030.2	+	1	874	c.874G>T	c.(874-876)Gcg>Tcg	p.A292S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	292							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)					TGGGCTCCCAGCGGCCAGCAC	0.677																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(874-876)Gcg>Tcg		zinc finger protein 831							44	50	48					20																	57766948		2001	4171	6172	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766948G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.874G>T	20.37:g.57766948G>T	ENSP00000360069:p.Ala292Ser						p.A292S	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	874	+	all_lung(29;0.0085)		292					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.874G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694301	0.00731	.	.	ENSG00000124203	ENST00000371030	T	0.04317	3.65	5.04	-0.658	0.11428	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.23275	0.045	T	0.38672	-0.9650	9	0.08179	T	0.78	.	18.7329	0.91742	0.0:0.3924:0.6076:0.0	.	292	Q5JPB2	ZN831_HUMAN	S	292	ENSP00000360069:A292S	ENSP00000360069:A292S	A	+	1	0	ZNF831	57200343	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.018000	0.12568	-0.352000	0.08237	-0.992000	0.02543	GCG		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		104	474	1	0	2.38877e-60	1	3.0041e-60	104	474					T	57766948	G	T	57766948	3	4	79	1	0	0	0	0	1	0	0	0	18238	971	34	3	876	3	ZNF831	20	57766948	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	57766948	5258572	20394	30711											
ZNF831	128611	broad.mit.edu	37	chr20	57767471	57767471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagccaggccgtaggagggCcccgggccccgtgcgctcca	17	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767471C>T	ENST00000371030.2	+	1	1397	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	466							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)					CGTAGGAGGGCCCCGGGCCCC	0.662																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1396-1398)gCc>gTc		zinc finger protein 831							33	40	38					20																	57767471		2014	4164	6178	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767471C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1397C>T	20.37:g.57767471C>T	ENSP00000360069:p.Ala466Val						p.A466V	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1397	+	all_lung(29;0.0085)		466					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1397C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660601	0.29515	.	.	ENSG00000124203	ENST00000371030	T	0.05081	3.5	5.21	4.26	0.50523	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	0.999999	B	0.34290	0.447	B	0.26864	0.074	T	0.39820	-0.9595	9	0.59425	D	0.04	-8.9091	12.7072	0.57067	0.0:0.9205:0.0:0.0795	.	466	Q5JPB2	ZN831_HUMAN	V	466	ENSP00000360069:A466V	ENSP00000360069:A466V	A	+	2	0	ZNF831	57200866	0.002000	0.14202	0.044000	0.18714	0.115000	0.19883	1.599000	0.36751	1.187000	0.43000	0.655000	0.94253	GCC		0.662	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		71	325	0	0	0	1	0	71	325					T	57767471	C	T	57767471	3	4	79	1	0	0	0	0	1	0	0	0	18238	739	26	2	1399	2	ZNF831	20	57767471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	523	57767471	5258049	20395	30712											
ZNF831	128611	broad.mit.edu	37	chr20	57767889	57767889	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagggcagagcgggcggcagGaagtgcggccagagaaggct	20	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767889G>A	ENST00000371030.2	+	1	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	605							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)					CGGGCGGCAGGAAGTGCGGCC	0.607																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1813-1815)agG>agA		zinc finger protein 831							42	49	47					20																	57767889		2063	4196	6259	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767889G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1815G>A	20.37:g.57767889G>A							p.R605R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1815	+	all_lung(29;0.0085)		605					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1815G>A	CCDS42894.1																																																																																				0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		15	452	0	0	0	1	0	15	452					A	57767889	G	A	57767889	2	1	79	1	0	0	0	0	0	0	0	1	18238	1165	41	2		2	ZNF831	20	57767889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	418	57767889	5257631	20396	30713											
ZNF831	128611	broad.mit.edu	37	chr20	57829178	57829178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcagatgctcaaaggCcttcttcctttgggtccaaa	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829178C>T	ENST00000371030.2	+	5	4414	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1472							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)					TGCTCAAAGGCCTTCTTCCTT	0.498																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4414-4416)Cct>Tct		zinc finger protein 831							88	91	90					20																	57829178		1987	4179	6166	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829178C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4414C>T	20.37:g.57829178C>T	ENSP00000360069:p.Pro1472Ser						p.P1472S	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4414	+	all_lung(29;0.0085)		1472					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4414C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	7.983	0.751699	0.15778	.	.	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.69	2.71	0.32032	.	0.444750	0.21457	N	0.074226	T	0.10252	0.0251	M	0.61703	1.905	0.09310	N	0.999999	B	0.28605	0.217	B	0.21151	0.033	T	0.21381	-1.0247	10	0.29301	T	0.29	-0.0796	7.2263	0.26018	0.0:0.7333:0.0:0.2667	.	1472	Q5JPB2	ZN831_HUMAN	S	1472	ENSP00000360069:P1472S	ENSP00000360069:P1472S	P	+	1	0	ZNF831	57262573	0.000000	0.05858	0.091000	0.20842	0.040000	0.13550	0.049000	0.14099	0.754000	0.32968	0.650000	0.86243	CCT		0.498	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		83	411	0	0	0	1	0	83	411					T	57829178	C	T	57829178	3	4	79	1	0	0	0	0	1	0	0	0	18238	739	26	2	4432	2	ZNF831	20	57829178	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61289	57829178	5196342	20397	30714											
ZNF831	128611	broad.mit.edu	37	chr20	57829317	57829317	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcacgagaccacagccAgactgcagggaggactctga	12	11	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829317A>G	ENST00000371030.2	+	5	4553	c.4553A>G	c.(4552-4554)cAg>cGg	p.Q1518R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1518							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)					GACCACAGCCAGACTGCAGGG	0.527																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(4552-4554)cAg>cGg		zinc finger protein 831							42	46	45					20																	57829317		2116	4244	6360	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829317A>G	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.4553A>G	20.37:g.57829317A>G	ENSP00000360069:p.Gln1518Arg						p.Q1518R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			5	4553	+	all_lung(29;0.0085)		1518					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4553A>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	1.075	-0.668825	0.03403	.	.	ENSG00000124203	ENST00000371030	T	0.04083	3.71	4.61	-3.4	0.04853	.	2.591440	0.01282	N	0.009769	T	0.02418	0.0074	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33497	-0.9866	10	0.05351	T	0.99	1.5943	1.4386	0.02349	0.4465:0.1546:0.258:0.1409	.	1518	Q5JPB2	ZN831_HUMAN	R	1518	ENSP00000360069:Q1518R	ENSP00000360069:Q1518R	Q	+	2	0	ZNF831	57262712	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.233000	0.09041	-0.261000	0.09405	-0.248000	0.11899	CAG		0.527	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		36	179	0	0	0	1	0	36	179					G	57829317	A	G	57829317	3	3	79	1	0	0	0	0	1	0	0	0	18238	188	7	4	4571	4	ZNF831	20	57829317	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	139	57829317	5196203	20398	30715											
EDN3	1908	broad.mit.edu	37	chr20	57896193	57896193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcgctgcgcttgtgtgGggagatatgacaaggcctgc	15	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57896193G>A	ENST00000337938.2	+	3	873	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	EDN3_ENST00000395654.3_Missense_Mutation_p.G163R|EDN3_ENST00000371028.2_Missense_Mutation_p.G163R|EDN3_ENST00000371025.3_Missense_Mutation_p.G163R|EDN3_ENST00000311585.7_Missense_Mutation_p.G163R	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	163	Endothelin-like.				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)					CGCTTGTGTGGGGAGATATGA	0.552																																						ENST00000311585.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(487-489)Ggg>Agg		endothelin 3							122	113	116					20																	57896193		2203	4300	6503	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57896193G>A	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.487G>A	20.37:g.57896193G>A	ENSP00000337128:p.Gly163Arg					EDN3_ENST00000337938.2_Missense_Mutation_p.G163R|EDN3_ENST00000371028.2_Missense_Mutation_p.G163R|EDN3_ENST00000395654.3_Missense_Mutation_p.G163R|EDN3_ENST00000371025.3_Missense_Mutation_p.G163R	p.G163R	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN			3	857	+	all_lung(29;0.0115)		163			Endothelin-like.		E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.487G>A	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001224	0.19121	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.86865	-2.05;-2.05;-2.05;-2.18;-2.18	4.75	2.71	0.32032	Endothelin-like toxin, conserved site (1);Endothelin-like toxin (1);	0.869368	0.10054	N	0.721777	T	0.80412	0.4618	L	0.39898	1.24	0.09310	N	1	B;B;B;P	0.37612	0.2;0.126;0.034;0.602	B;B;B;B	0.34489	0.049;0.035;0.022;0.184	T	0.62282	-0.6887	10	0.19147	T	0.46	-11.8105	11.4336	0.50056	0.0:0.3801:0.6199:0.0	.	163;163;163;163	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	R	163	ENSP00000337128:G163R;ENSP00000311854:G163R;ENSP00000360067:G163R;ENSP00000360064:G163R;ENSP00000379015:G163R	ENSP00000311854:G163R	G	+	1	0	EDN3	57329588	0.047000	0.20315	0.001000	0.08648	0.040000	0.13550	1.507000	0.35758	0.488000	0.27723	0.555000	0.69702	GGG		0.552	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		19	571	0	0	0	1	0	19	571					A	57896193	G	A	57896193	3	1	79	1	0	0	0	0	1	0	0	0	4934	1232	43	2	497	2	EDN3	20	57896193	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66876	57896193	5129327	20399	30716											
EDN3	1908	broad.mit.edu	37	chr20	57899506	57899506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctctttcaggaaggaGccccttaggaggacaggcct	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57899506G>A	ENST00000337938.2	+	5	1095	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EDN3_ENST00000395654.3_Missense_Mutation_p.A223T|EDN3_ENST00000371028.2_Missense_Mutation_p.A237T|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000311585.7_3'UTR	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	237					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)					TCAGGAAGGAGCCCCTTAGGA	0.557																																						ENST00000337938.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19						c.(709-711)Gcc>Acc		endothelin 3							73	75	74					20																	57899506		2203	4300	6503	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57899506G>A	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.709G>A	20.37:g.57899506G>A	ENSP00000337128:p.Ala237Thr					EDN3_ENST00000311585.7_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.A237T|EDN3_ENST00000395654.3_Missense_Mutation_p.A223T|EDN3_ENST00000371025.3_3'UTR	p.A237T	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN			5	1095	+	all_lung(29;0.0115)		237					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.709G>A	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724016	0.30593	.	.	ENSG00000124205	ENST00000337938;ENST00000371028;ENST00000395654	D;D;D	0.96232	-3.93;-3.93;-3.95	1.63	0.415	0.16411	.	18.429800	0.00357	U	0.000034	D	0.95711	0.8605	N	0.22421	0.69	0.09310	N	1	D;D	0.60575	0.988;0.98	D;P	0.67231	0.95;0.892	D	0.87404	0.2371	10	0.59425	D	0.04	.	4.6525	0.12601	0.0:0.0:0.6297:0.3703	.	223;237	P14138-2;P14138	.;EDN3_HUMAN	T	237;237;223	ENSP00000337128:A237T;ENSP00000360067:A237T;ENSP00000379015:A223T	ENSP00000337128:A237T	A	+	1	0	EDN3	57332901	0.000000	0.05858	0.014000	0.15608	0.333000	0.28666	-0.353000	0.07691	-0.062000	0.13088	0.655000	0.94253	GCC		0.557	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		134	570	0	0	0	1	0	134	570					A	57899506	G	A	57899506	3	1	79	1	0	0	0	0	1	0	0	0	4934	971	34	2	766	2	EDN3	20	57899506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3313	57899506	5126014	20400	30717											
PHACTR3	116154	broad.mit.edu	37	chr20	58348387	58348387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgccgacccttccctcCggggccagctctccacaccc	9	20	1	1	rs148776043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58348387C>T	ENST00000371015.1	+	6	1272	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158W	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	269						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)			CCCTTCCCTCCGGGGCCAGCT	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		18381	0.0		0.002	False		,,,				2504	0.0					ENST00000371015.1																			0				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						c.(805-807)Cgg>Tgg		phosphatase and actin regulator 3		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85	81	83		796,682,805,682,472	2.9	0.6	20	dbSNP_134	83	21,8579	14.6+/-50.1	0,21,4279	yes	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	101,101,101,101,101	0,22,6481	TT,TC,CC		0.2442,0.0227,0.1692	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	266/557,228/519,269/560,228/519,158/449	58348387	22,12984	2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348387C>T	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.805C>T	20.37:g.58348387C>T	ENSP00000360054:p.Arg269Trp					PHACTR3_ENST00000541461.1_Missense_Mutation_p.R228W|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R266W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R228W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R158W|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R228W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R158W	p.R269W	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1272	+	all_lung(29;0.00344)		269					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.805C>T	CCDS13480.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	14.27	2.485596	0.44147	2.27E-4	0.002442	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.33438	1.78;1.79;1.41;1.8;1.8;1.8;1.41	5.13	2.9	0.33743	.	0.056902	0.64402	D	0.000003	T	0.52996	0.1769	M	0.71581	2.175	0.52099	D	0.999944	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.991	T	0.59685	-0.7408	10	0.87932	D	0	-10.3867	13.7015	0.62611	0.3437:0.6563:0.0:0.0	.	158;269;266	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	W	266;269;158;228;228;228;158	ENSP00000353002:R266W;ENSP00000360054:R269W;ENSP00000379001:R158W;ENSP00000442483:R228W;ENSP00000347866:R228W;ENSP00000378998:R228W;ENSP00000354555:R158W	ENSP00000347866:R228W	R	+	1	2	PHACTR3	57781782	0.997000	0.39634	0.553000	0.28255	0.264000	0.26372	1.219000	0.32479	1.097000	0.41459	0.655000	0.94253	CGG		0.647	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		51	576	0	0	0	1	0	51	576					T	58348387	C	T	58348387	3	4	79	1	0	0	0	0	1	0	0	0	11853	643	23	1	827	1	PHACTR3	20	58348387	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	448881	58348387	4677133	20401	30718											
SYCP2	10388	broad.mit.edu	37	chr20	58439413	58439413	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	catgaatactgacatcagttCtctgcgtacattaagaagct	7	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439413C>T	ENST00000357552.3	-	45	4771	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1516					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)			GACATCAGTTCTCTGCGTACA	0.303																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4546-4548)Gaa>Aaa		synaptonemal complex protein 2							65	60	62					20																	58439413		2201	4291	6492	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58439413C>T	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.4546G>A	20.37:g.58439413C>T	ENSP00000350162:p.Glu1516Lys					SYCP2_ENST00000371001.2_Missense_Mutation_p.E1516K	p.E1516K			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		45	4771	-	all_lung(29;0.00344)		1516					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4546G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981641	0.53827	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14022	2.54;2.54	5.31	4.37	0.52481	.	0.095117	0.46145	D	0.000303	T	0.09335	0.0230	N	0.14661	0.345	0.23186	N	0.998152	B	0.25169	0.119	B	0.26416	0.069	T	0.24119	-1.0169	10	0.59425	D	0.04	-9.4305	11.6587	0.51334	0.0:0.9131:0.0:0.0869	.	1516	Q9BX26	SYCP2_HUMAN	K	1516;1516;202	ENSP00000360040:E1516K;ENSP00000350162:E1516K	ENSP00000350162:E1516K	E	-	1	0	SYCP2	57872808	1.000000	0.71417	0.983000	0.44433	0.844000	0.47949	3.194000	0.51005	1.250000	0.43966	0.305000	0.20034	GAA		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		8	71	0	0	0	1	0	8	71					T	58439413	C	T	58439413	3	4	79	1	0	0	0	0	1	0	0	0	15484	922	32	2	50	2	SYCP2	20	58439413	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	91026	58439413	4586107	20402	30719											
SYCP2	10388	broad.mit.edu	37	chr20	58439431	58439431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgcgtacattaagaaGctcctcttctagctatagcc	6	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58439431G>A	ENST00000357552.3	-	45	4753	c.4528C>T	c.(4528-4530)Ctt>Ttt	p.L1510F	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1510					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)			ACATTAAGAAGCTCCTCTTCT	0.303																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4528-4530)Ctt>Ttt		synaptonemal complex protein 2							59	55	56					20																	58439431		2201	4291	6492	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58439431G>A	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.4528C>T	20.37:g.58439431G>A	ENSP00000350162:p.Leu1510Phe					SYCP2_ENST00000371001.2_Missense_Mutation_p.L1510F	p.L1510F			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		45	4753	-	all_lung(29;0.00344)		1510					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4528C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258119	0.59321	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.27104	1.69;1.69	5.31	2.07	0.26955	.	0.237603	0.29767	N	0.011253	T	0.40546	0.1121	L	0.59436	1.845	0.33681	D	0.612099	D	0.67145	0.996	D	0.67725	0.953	T	0.53760	-0.8393	10	0.72032	D	0.01	-6.6746	8.6258	0.33888	0.0826:0.2875:0.6299:0.0	.	1510	Q9BX26	SYCP2_HUMAN	F	1510;1510;196	ENSP00000360040:L1510F;ENSP00000350162:L1510F	ENSP00000350162:L1510F	L	-	1	0	SYCP2	57872826	1.000000	0.71417	0.918000	0.36340	0.892000	0.51952	2.477000	0.45180	0.611000	0.30052	0.305000	0.20034	CTT		0.303	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		9	71	0	0	0	1	0	9	71					A	58439431	G	A	58439431	3	1	79	1	0	0	0	0	1	0	0	0	15484	971	34	2	68	2	SYCP2	20	58439431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18	58439431	4586089	20403	30720											
SYCP2	10388	broad.mit.edu	37	chr20	58441414	58441414	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaattctccagctcctctatGataatgaattggaatttatc	5	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441414G>A	ENST00000357552.3	-	41	4479	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	SYCP2_ENST00000371001.2_Silent_p.I1418I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1418					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)			GCTCCTCTATGATAATGAATT	0.244																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4252-4254)atC>atT		synaptonemal complex protein 2							31	36	34					20																	58441414		2126	4234	6360	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58441414G>A	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.4254C>T	20.37:g.58441414G>A						SYCP2_ENST00000371001.2_Silent_p.I1418I	p.I1418I			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		41	4479	-	all_lung(29;0.00344)		1418					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.4254C>T	CCDS13482.1																																																																																				0.244	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		31	155	0	0	0	1	0	31	155					A	58441414	G	A	58441414	2	1	79	1	0	0	0	0	0	0	0	1	15484	1280	45	2		2	SYCP2	20	58441414	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1983	58441414	4584106	20404	30721											
SYCP2	10388	broad.mit.edu	37	chr20	58441580	58441580	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gactttgatgattcattgttCtcagatgttgctgagctgtt	10	6	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441580C>T	ENST00000357552.3	-	40	4415	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1397					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)			ATTCATTGTTCTCAGATGTTG	0.308																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(4189-4191)aGa>aAa		synaptonemal complex protein 2							87	90	89					20																	58441580		2203	4298	6501	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58441580C>T	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.4190G>A	20.37:g.58441580C>T	ENSP00000350162:p.Arg1397Lys					SYCP2_ENST00000371001.2_Missense_Mutation_p.R1397K	p.R1397K			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		40	4415	-	all_lung(29;0.00344)		1397					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.4190G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	0.435	-0.901495	0.02453	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.12255	2.7;2.7	5.3	-2.8	0.05823	.	1.000790	0.08062	N	0.998326	T	0.03434	0.0099	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43327	-0.9398	10	0.05721	T	0.95	-0.5713	5.3347	0.15951	0.1098:0.0882:0.5781:0.2239	.	1397	Q9BX26	SYCP2_HUMAN	K	1397;1397;83	ENSP00000360040:R1397K;ENSP00000350162:R1397K	ENSP00000350162:R1397K	R	-	2	0	SYCP2	57874975	0.528000	0.26314	0.005000	0.12908	0.516000	0.34256	0.736000	0.26130	-0.201000	0.10284	-0.484000	0.04775	AGA		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		40	217	0	0	0	1	0	40	217					T	58441580	C	T	58441580	3	4	79	1	0	0	0	0	1	0	0	0	15484	913	32	2	426	2	SYCP2	20	58441580	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	166	58441580	4583940	20405	30722											
SYCP2	10388	broad.mit.edu	37	chr20	58457164	58457164	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttacactgggcattcagaAgtaacattaacaaaggtagt	8	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58457164A>C	ENST00000357552.3	-	27	2811	c.2586T>G	c.(2584-2586)acT>acG	p.T862T	SYCP2_ENST00000371001.2_Silent_p.T862T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	862					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)			GGCATTCAGAAGTAACATTAA	0.289																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2584-2586)acT>acG		synaptonemal complex protein 2							74	74	74					20																	58457164		2198	4296	6494	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58457164A>C	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2586T>G	20.37:g.58457164A>C						SYCP2_ENST00000371001.2_Silent_p.T862T	p.T862T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		27	2811	-	all_lung(29;0.00344)		862					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.2586T>G	CCDS13482.1																																																																																				0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		10	165	0	0	0	1	0	10	165					C	58457164	A	C	58457164	2	2	79	1	0	0	0	0	0	0	0	1	15484	59	3	4		4	SYCP2	20	58457164	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	15584	58457164	4568356	20406	30723											
SYCP2	10388	broad.mit.edu	37	chr20	58467404	58467404	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttatatttcacttTtcctgttccttcagaattat	2	9	4	1	rs199782376		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58467404T>G	ENST00000357552.3	-	24	2230	c.2005A>C	c.(2005-2007)Aaa>Caa	p.K669Q	SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	669					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)			TATTTCACTTTTCCTGTTCCT	0.279													T|||	1	0.000199681	0.0	0.0	5008	,	,		15775	0.001		0.0	False		,,,				2504	0.0					ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2005-2007)Aaa>Caa		synaptonemal complex protein 2							83	84	84					20																	58467404		2201	4298	6499	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467404T>G	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.2005A>C	20.37:g.58467404T>G	ENSP00000350162:p.Lys669Gln					SYCP2_ENST00000371001.2_Missense_Mutation_p.K669Q	p.K669Q			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2230	-	all_lung(29;0.00344)		669					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.2005A>C	CCDS13482.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	3.940	-0.014318	0.07681	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18960	2.44;2.44;2.18	5.23	2.8	0.32819	.	0.728814	0.13007	N	0.421209	T	0.20901	0.0503	L	0.51422	1.61	0.09310	N	1	P	0.48016	0.904	P	0.44897	0.463	T	0.13764	-1.0497	10	0.66056	D	0.02	-5.6591	4.878	0.13665	0.1643:0.0938:0.0:0.7419	.	669	Q9BX26	SYCP2_HUMAN	Q	669	ENSP00000360040:K669Q;ENSP00000350162:K669Q;ENSP00000402456:K669Q	ENSP00000350162:K669Q	K	-	1	0	SYCP2	57900799	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.617000	0.24359	0.930000	0.37217	0.482000	0.46254	AAA		0.279	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		13	364	0	0	0	1	0	13	364					G	58467404	T	G	58467404	3	3	79	1	0	0	0	0	1	0	0	0	15484	1850	64	4	2675	4	SYCP2	20	58467404	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10240	58467404	4558116	20407	30724											
SYCP2	10388	broad.mit.edu	37	chr20	58476773	58476773	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attagtgatttctagtgatgCgtcaaaatacaaaagcaatt	7	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58476773C>T	ENST00000357552.3	-	16	1351	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	376					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)			TCTAGTGATGCGTCAAAATAC	0.274																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(1126-1128)Gca>Aca		synaptonemal complex protein 2							72	70	71					20																	58476773		2199	4288	6487	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58476773C>T	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.1126G>A	20.37:g.58476773C>T	ENSP00000350162:p.Ala376Thr					SYCP2_ENST00000371001.2_Missense_Mutation_p.A376T	p.A376T			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		16	1351	-	all_lung(29;0.00344)		376					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1126G>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966788	0.34659	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.18810	2.45;2.45;2.19	5.59	1.07	0.20283	.	1.172000	0.06052	N	0.656683	T	0.14743	0.0356	L	0.47716	1.5	0.19300	N	0.999979	B;B	0.27498	0.054;0.18	B;B	0.20384	0.013;0.029	T	0.31641	-0.9936	10	0.10636	T	0.68	-0.9909	2.8299	0.05496	0.1196:0.5126:0.129:0.2388	.	376;376	A2A341;Q9BX26	.;SYCP2_HUMAN	T	376	ENSP00000360040:A376T;ENSP00000350162:A376T;ENSP00000402456:A376T	ENSP00000350162:A376T	A	-	1	0	SYCP2	57910168	0.660000	0.27420	0.619000	0.29118	0.977000	0.68977	-0.016000	0.12613	0.309000	0.22966	0.650000	0.86243	GCA		0.274	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		25	132	0	0	0	1	0	25	132					T	58476773	C	T	58476773	3	4	79	1	0	0	0	0	1	0	0	0	15484	768	27	1	3586	1	SYCP2	20	58476773	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9369	58476773	4548747	20408	30725											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514512	58514512	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgacgggcggcgggaAatcgggcaccaggcaatgca	17	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58514512A>C	ENST00000370996.3	-	1	840	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	159					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)			GGCGGCGGGAAATCGGGCACC	0.672																																						ENST00000370996.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13						c.(475-477)Ttc>Gtc		protein phosphatase 1, regulatory subunit 3D							17	20	19					20																	58514512		2173	4247	6420	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514512A>C	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.475T>G	20.37:g.58514512A>C	ENSP00000360035:p.Phe159Val					FAM217B_ENST00000358293.3_Intron	p.F159V	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	840	-	all_lung(29;0.00391)		159					Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.475T>G	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951431	0.92660	.	.	ENSG00000132825	ENST00000370996	T	0.65916	-0.18	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	T	0.78610	0.4310	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81342	-0.0976	10	0.66056	D	0.02	-19.8349	14.9744	0.71261	1.0:0.0:0.0:0.0	.	159	O95685	PPR3D_HUMAN	V	159	ENSP00000360035:F159V	ENSP00000360035:F159V	F	-	1	0	PPP1R3D	57947907	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.064000	0.93933	1.941000	0.56285	0.379000	0.24179	TTC		0.672	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		46	161	0	0	0	1	0	46	161					C	58514512	A	C	58514512	3	2	79	1	0	0	0	0	1	0	0	0	12421	14	1	4	428	4	PPP1R3D	20	58514512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	37739	58514512	4511008	20409	30726											
CDH26	60437	broad.mit.edu	37	chr20	58562651	58562651	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggggcattttgacatttcGactgaccctgagaccaacga	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58562651G>A	ENST00000244047.5	+	8	1292	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CDH26_ENST00000348616.4_Silent_p.S327S			Q8IXH8	CAD26_HUMAN	cadherin 26	327	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)|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)			TTGACATTTCGACTGACCCTG	0.453																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(979-981)tcG>tcA		cadherin 26							126	102	110					20																	58562651		2203	4300	6503	SO:0001819	synonymous_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58562651G>A	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.981G>A	20.37:g.58562651G>A						CDH26_ENST00000244047.5_Silent_p.S327S	p.S327S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		8	1281	+	all_lung(29;0.00963)		327			Cadherin 3.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.981G>A																																																																																					0.453	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		68	319	0	0	0	1	0	68	319					A	58562651	G	A	58562651	2	1	79	1	0	0	0	0	0	0	0	1	3119	1045	37	1		1	CDH26	20	58562651	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48139	58562651	4462869	20410	30727											
CDH26	60437	broad.mit.edu	37	chr20	58569416	58569416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggaggtctgtgagtctgCtgtgcatgagcccctccaca	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569416C>T	ENST00000244047.5	+	11	1849	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.A513V|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	513					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)			TGTGAGTCTGCTGTGCATGAG	0.552																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1537-1539)gCt>gTt		cadherin 26							86	76	79					20																	58569416		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569416C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1538C>T	20.37:g.58569416C>T	ENSP00000244047:p.Ala513Val					CDH26_ENST00000244047.5_Missense_Mutation_p.A513V|CDH26_ENST00000497614.1_3'UTR	p.A513V	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1838	+	all_lung(29;0.00963)		513					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1538C>T		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429050	0.43122	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61392	0.11;0.11	4.58	1.06	0.20224	Cadherin-like (2);	0.881551	0.09841	N	0.748865	T	0.50086	0.1595	M	0.66939	2.045	0.09310	N	1	B;B	0.29612	0.251;0.22	B;B	0.29524	0.07;0.103	T	0.44787	-0.9305	10	0.40728	T	0.16	.	3.5879	0.07978	0.2297:0.5454:0.1225:0.1023	.	513;513	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	V	513	ENSP00000244047:A513V;ENSP00000339390:A513V	ENSP00000244047:A513V	A	+	2	0	CDH26	58002811	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.409000	0.21082	0.341000	0.23771	0.655000	0.94253	GCT		0.552	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		50	246	0	0	0	1	0	50	246					T	58569416	C	T	58569416	3	4	79	1	0	0	0	0	1	0	0	0	3119	797	28	2	1580	2	CDH26	20	58569416	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6765	58569416	4456104	20411	30728											
CDH26	60437	broad.mit.edu	37	chr20	58569448	58569448	+	Missense_Mutation	SNP	G	G	A													ccctccacatcgaggcagagGatccggacctggagccgttc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569448G>A	ENST00000244047.5	+	11	1881	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.D524N|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	524					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)			CGAGGCAGAGGATCCGGACCT	0.547																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1570-1572)Gat>Aat		cadherin 26							71	66	67					20																	58569448		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569448G>A	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.1570G>A	20.37:g.58569448G>A	ENSP00000244047:p.Asp524Asn					CDH26_ENST00000244047.5_Missense_Mutation_p.D524N|CDH26_ENST00000497614.1_3'UTR	p.D524N	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1870	+	all_lung(29;0.00963)		524					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1570G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.089308	0.76756	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.78003	-1.14;-1.14	4.35	3.4	0.38934	Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.88731	0.6516	M	0.89715	3.055	0.09310	N	0.999994	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	.	10.9183	0.47150	0.0947:0.0:0.9053:0.0	.	524;524	Q8IXH8;Q8IXH8-4	CAD26_HUMAN;.	N	524	ENSP00000244047:D524N;ENSP00000339390:D524N	ENSP00000244047:D524N	D	+	1	0	CDH26	58002843	0.998000	0.40836	0.003000	0.11579	0.370000	0.29829	4.005000	0.57075	0.809000	0.34255	0.655000	0.94253	GAT		0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		16	252	0	0	0	1	0	16	252					A	58569448	G	A	58569448	3	1	79	1	0	0	0	0	1	0	0	0	3119	1174	41	2	1612	2	CDH26	20	58569448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32	58569448	4456072	20412	30729	197	2									
CDH26	60437	broad.mit.edu	37	chr20	58569449	58569449	+	Missense_Mutation	SNP	A	A	C													cctccacatcgaggcagaggAtccggacctggagccgttct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569449A>C	ENST00000244047.5	+	11	1882	c.1571A>C	c.(1570-1572)gAt>gCt	p.D524A	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Missense_Mutation_p.D524A|CDH26_ENST00000350849.6_5'Flank|CDH26_ENST00000244049.3_5'Flank			Q8IXH8	CAD26_HUMAN	cadherin 26	524					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)			GAGGCAGAGGATCCGGACCTG	0.547																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(1570-1572)gAt>gCt		cadherin 26							71	66	67					20																	58569449		2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58569449A>C	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.1571A>C	20.37:g.58569449A>C	ENSP00000244047:p.Asp524Ala					CDH26_ENST00000244047.5_Missense_Mutation_p.D524A|CDH26_ENST00000497614.1_3'UTR	p.D524A	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		11	1871	+	all_lung(29;0.00963)		524					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.1571A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.38|17.38	3.375377|3.375377	0.61735|0.61735	.|.	.|.	ENSG00000124215|ENSG00000124215	ENST00000244047;ENST00000348616|ENST00000370991	T;T|.	0.78003|.	-1.14;-1.14|.	4.35|4.35	2.08|2.08	0.27032|0.27032	Cadherin-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.63581|0.63581	0.2523|0.2523	M|M	0.89715|0.89715	3.055|3.055	0.09310|0.09310	N|N	0.999992|0.999992	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.56074|0.56074	-0.8039|-0.8039	10|5	0.87932|.	D|.	0|.	.|.	7.9154|7.9154	0.29814|0.29814	0.8363:0.0:0.1637:0.0|0.8363:0.0:0.1637:0.0	.|.	524;524|.	Q8IXH8;Q8IXH8-4|.	CAD26_HUMAN;.|.	A|L	524|116	ENSP00000244047:D524A;ENSP00000339390:D524A|.	ENSP00000244047:D524A|.	D|I	+|+	2|1	0|0	CDH26|CDH26	58002844|58002844	0.993000|0.993000	0.37304|0.37304	0.001000|0.001000	0.08648|0.08648	0.389000|0.389000	0.30415|0.30415	3.650000|3.650000	0.54424|0.54424	0.111000|0.111000	0.17947|0.17947	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		35	234	0	0	0	1	0	35	234					C	58569449	A	C	58569449	3	2	79	1	0	0	0	0	1	0	0	0	3119	333	12	4	1613	4	CDH26	20	58569449	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1	58569449	4456071	20413	30730	197	2									
CDH26	60437	broad.mit.edu	37	chr20	58587641	58587641	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacctacctcacgtctacagCgaggaaggggagtgtggagg	15	9	2	0	rs375717739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58587641C>T	ENST00000244047.5	+	15	2483				CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Silent_p.S785S|CDH26_ENST00000350849.6_Silent_p.S118S|CDH26_ENST00000244049.3_Silent_p.S77S			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)			ACGTCTACAGCGAGGAAGGGG	0.547																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(2353-2355)agC>agT		cadherin 26		C	,	0,4406		0,0,2203	99	92	94		354,2355	-7.6	0	20		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH26	NM_021810.4,NM_177980.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	118/166,785/833	58587641	1,13005	2203	4300	6503	SO:0001627	intron_variant	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58587641C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5799C>T	20.37:g.58587641C>T						CDH26_ENST00000244047.5_Intron|CDH26_ENST00000244049.3_Silent_p.S77S|CDH26_ENST00000350849.6_Silent_p.S118S|CDH26_ENST00000497614.1_3'UTR	p.S785S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		18	2655	+	all_lung(29;0.00963)		0					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	ENST00000244047.5	37	c.2355C>T																																																																																					0.547	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		83	353	0	0	0	1	0	83	353					T	58587641	C	T	58587641	1	4	79	0	1	0	0	0	0	0	0	0	3119	767	27	1		1	CDH26	20	58587641	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18192	58587641	4437879	20414	30731											
CDH4	1002	broad.mit.edu	37	chr20	60427938	60427938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacaacggctccgtggaCgagggctccaagccaggtga	14	12	1	1	rs2229574	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597													C|||	10	0.00199681	0.0	0.0043	5008	,	,		19177	0.001		0.005	False		,,,				2504	0.001					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(859-861)gaC>gaT		cadherin 4, type 1, R-cadherin (retinal)		C		4,4402	8.1+/-20.4	0,4,2199	203	165	178		861	1.1	1	20	dbSNP_134	178	51,8549	33.3+/-86.6	0,51,4249	no	coding-synonymous	CDH4	NM_001794.2		0,55,6448	TT,TC,CC		0.593,0.0908,0.4229		287/917	60427938	55,12951	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60427938C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.861C>T	20.37:g.60427938C>T						CDH4_ENST00000543233.1_Silent_p.D213D	p.D287D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		6	949	+			287			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.861C>T	CCDS13488.1																																																																																				0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		134	773	0	0	0	1	0	134	773					T	60427938	C	T	60427938	2	4	79	1	0	0	0	0	0	0	0	1	3121	535	19	1		1	CDH4	20	60427938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1840297	60427938	2597582	20415	30732											
CDH4	1002	broad.mit.edu	37	chr20	60448855	60448855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacgggatggtgcggtacCggatcgtgacccagacccca	13	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60448855C>T	ENST00000360469.5	+	7	1037	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W	CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	317	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGTGCGGTACCGGATCGTGAC	0.612																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(949-951)Cgg>Tgg		cadherin 4, type 1, R-cadherin (retinal)							165	129	141					20																	60448855		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448855C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.949C>T	20.37:g.60448855C>T	ENSP00000353656:p.Arg317Trp					CDH4_ENST00000543233.1_Missense_Mutation_p.R243W	p.R317W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1037	+			317			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.949C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093340	0.56075	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54071	0.59;0.59	4.92	2.9	0.33743	Cadherin (4);Cadherin-like (1);	0.055234	0.85682	D	0.000000	T	0.71779	0.3380	M	0.80183	2.485	0.50171	D	0.999858	D	0.89917	1.0	D	0.76575	0.988	T	0.73379	-0.4001	9	.	.	.	.	14.1152	0.65149	0.2429:0.7571:0.0:0.0	.	317	P55283	CADH4_HUMAN	W	317;225;243	ENSP00000353656:R317W;ENSP00000443301:R243W	.	R	+	1	2	CDH4	59882250	1.000000	0.71417	0.947000	0.38551	0.585000	0.36419	1.340000	0.33896	0.435000	0.26365	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		11	570	0	0	0	1	0	11	570					T	60448855	C	T	60448855	3	4	79	1	0	0	0	0	1	0	0	0	3121	643	23	1	975	1	CDH4	20	60448855	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20917	60448855	2576665	20416	30733											
CDH4	1002	broad.mit.edu	37	chr20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgtgccccccggcaccGtgctgaccacgttttcagct	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGGCACCGTGCTGACCAC	0.632																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1573-1575)Gtg>Atg		cadherin 4, type 1, R-cadherin (retinal)							63	54	57					20																	60498707		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60498707G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1573G>A	20.37:g.60498707G>A	ENSP00000353656:p.Val525Met					CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	p.V525M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		10	1661	+			525			Cadherin 4.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1573G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238671	0.22711	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.256554	0.39834	N	0.001260	T	0.29620	0.0739	N	0.12637	0.245	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.13845	-1.0494	9	.	.	.	.	13.434	0.61073	0.0:0.1577:0.8423:0.0	.	525	P55283	CADH4_HUMAN	M	525;433;451	ENSP00000353656:V525M;ENSP00000443301:V451M	.	V	+	1	0	CDH4	59932102	0.012000	0.17670	0.742000	0.31022	0.778000	0.44026	2.000000	0.40816	2.162000	0.67917	0.543000	0.68304	GTG		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		50	150	0	0	0	1	0	50	150					A	60498707	G	A	60498707	3	1	79	1	0	0	0	0	1	0	0	0	3121	1145	40	1	1611	1	CDH4	20	60498707	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49852	60498707	2526813	20417	30734											
CDH4	1002	broad.mit.edu	37	chr20	60504702	60504702	+	Silent	SNP	C	C	T													tcagcttgcgcatcctgtacCtggaggccgggatgtatgac					rs8122772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504702C>T	ENST00000360469.5	+	13	2129	c.2041C>T	c.(2041-2043)Ctg>Ttg	p.L681L	CDH4_ENST00000543233.1_Silent_p.L607L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	681	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CATCCTGTACCTGGAGGCCGG	0.547																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2041-2043)Ctg>Ttg		cadherin 4, type 1, R-cadherin (retinal)							131	98	109					20																	60504702		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504702C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2041C>T	20.37:g.60504702C>T						CDH4_ENST00000543233.1_Silent_p.L607L	p.L681L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2129	+			681			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2041C>T	CCDS13488.1																																																																																				0.547	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	398	0	0	0	1	0	10	398					T	60504702	C	T	60504702	2	4	79	1	0	0	0	0	0	0	0	1	3121	680	24	2		2	CDH4	20	60504702	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5995	60504702	2520818	20418	30735	198	2									
CDH4	1002	broad.mit.edu	37	chr20	60504709	60504709	+	Missense_Mutation	SNP	C	C	T													gcgcatcctgtacctggaggCcgggatgtatgacgtcccca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60504709C>T	ENST00000360469.5	+	13	2136	c.2048C>T	c.(2047-2049)gCc>gTc	p.A683V	CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	683	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACCTGGAGGCCGGGATGTAT	0.542																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2047-2049)gCc>gTc		cadherin 4, type 1, R-cadherin (retinal)							139	104	116					20																	60504709		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60504709C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2048C>T	20.37:g.60504709C>T	ENSP00000353656:p.Ala683Val					CDH4_ENST00000543233.1_Missense_Mutation_p.A609V	p.A683V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		13	2136	+			683			Cadherin 5.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2048C>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511956	0.27036	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60299	0.2;0.2	4.14	4.14	0.48551	Cadherin (3);Cadherin-like (1);	0.060746	0.64402	D	0.000004	T	0.42810	0.1219	L	0.45051	1.395	0.41343	D	0.987315	P	0.38582	0.638	B	0.28385	0.089	T	0.42050	-0.9474	9	.	.	.	.	11.6549	0.51313	0.1776:0.8224:0.0:0.0	.	683	P55283	CADH4_HUMAN	V	683;591;609	ENSP00000353656:A683V;ENSP00000443301:A609V	.	A	+	2	0	CDH4	59938104	0.197000	0.23362	0.863000	0.33907	0.943000	0.58893	2.334000	0.43920	1.855000	0.53841	0.561000	0.74099	GCC		0.542	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		27	394	0	0	0	1	0	27	394					T	60504709	C	T	60504709	3	4	79	1	0	0	0	0	1	0	0	0	3121	739	26	2	2098	2	CDH4	20	60504709	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7	60504709	2520811	20419	30736	198	2									
TAF4	6874	broad.mit.edu	37	chr20	60575234	60575234	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatattttctctacaagattCtgtagcctttgttgcgtggc	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	ENST00000252996.4	-	11	2732	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	911					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)			CTACAAGATTCTGTAGCCTTT	0.408																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2731-2733)caG>caT		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							133	125	128					20																	60575234		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575234C>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2733G>T	20.37:g.60575234C>A	ENSP00000252996:p.Gln911His						p.Q911H	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		11	2732	-	Breast(26;1e-08)		911					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2733G>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220788	0.58560	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25912	1.77;1.77	4.7	1.66	0.24008	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.070768	0.64402	D	0.000019	T	0.32704	0.0838	L	0.38531	1.155	0.58432	D	0.999999	D	0.71674	0.998	D	0.70935	0.971	T	0.08046	-1.0741	10	0.72032	D	0.01	-11.4158	5.8129	0.18475	0.0:0.508:0.0:0.492	.	911	O00268	TAF4_HUMAN	H	911;775	ENSP00000252996:Q911H;ENSP00000399091:Q775H	ENSP00000252996:Q911H	Q	-	3	2	TAF4	60008629	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	0.964000	0.29306	0.969000	0.38237	-0.258000	0.10820	CAG		0.408	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		62	334	1	0	8.77104e-35	1	1.04431e-34	62	334					A	60575234	C	A	60575234	3	1	79	1	0	0	0	0	1	0	0	0	15578	912	32	3	544	3	TAF4	20	60575234	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70525	60575234	2450286	20420	30737											
TAF4	6874	broad.mit.edu	37	chr20	60581569	60581569	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccccttccataccagCggtgtgggttgcccctgctt	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	ENST00000252996.4	-	7	2219	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	740					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)			TCCATACCAGCGGTGTGGGTT	0.657																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2218-2220)ccG>ccA		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							16	15	15					20																	60581569		2168	4249	6417	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581569C>T	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.2220G>A	20.37:g.60581569C>T						TAF4_ENST00000488539.1_Intron	p.P740P	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2219	-	Breast(26;1e-08)		740					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.2220G>A	CCDS33500.1																																																																																				0.657	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		9	75	0	0	0	1	0	9	75					T	60581569	C	T	60581569	2	4	79	1	0	0	0	0	0	0	0	1	15578	755	27	1		1	TAF4	20	60581569	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6335	60581569	2443951	20421	30738											
TAF4	6874	broad.mit.edu	37	chr20	60585189	60585189	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgccgtcccaagtgaagcCgtctgggcagcgccacccag	13	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	ENST00000252996.4	-	4	1673	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	558					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)			CAAGTGAAGCCGTCTGGGCAG	0.622																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1672-1674)acG>acA		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							82	71	75					20																	60585189		2203	4300	6503	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60585189C>T	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.1674G>A	20.37:g.60585189C>T							p.T558T	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		4	1673	-	Breast(26;1e-08)		558					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.1674G>A	CCDS33500.1																																																																																				0.622	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		52	330	0	0	0	1	0	52	330					T	60585189	C	T	60585189	2	4	79	1	0	0	0	0	0	0	0	1	15578	639	23	1		1	TAF4	20	60585189	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3620	60585189	2440331	20422	30739											
GTPBP5	26164	broad.mit.edu	37	chr20	60768660	60768660	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaactcccggggaagaagCtgctctctgagaaaaagctg	13	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60768660C>T	ENST00000370823.3	+	2	202	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.L62L	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	62	Localized in the mitochondria.|Not localized in the mitochondria.				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)										GGGGAAGAAGCTGCTCTCTGA	0.622																																						ENST00000370823.3																			0											c.(184-186)Ctg>Ttg		mitochondrial ribosome-associated GTPase 2							30	31	31					20																	60768660		2202	4300	6502	SO:0001819	synonymous_variant	26164							g.chr20:60768660C>T	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.184C>T	20.37:g.60768660C>T						MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.L62L	p.L62L	NM_015666.3	NP_056481.1					2	202	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.184C>T	CCDS13492.1																																																																																				0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		32	128	0	0	0	1	0	32	128					T	60768660	C	T	60768660	2	4	79	1	0	0	0	0	0	0	0	1	6913	796	28	2		2	GTPBP5	20	60768660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	183471	60768660	2256860	20423	30740											
OSBPL2	9885	broad.mit.edu	37	chr20	60861650	60861650	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttcaggatgaagactcCgggaaggctgacagcgacgt	15	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60861650C>T	ENST00000313733.3	+	11	1210	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	OSBPL2_ENST00000439951.2_Silent_p.S244S|OSBPL2_ENST00000358053.2_Silent_p.S324S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	336					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATGAAGACTCCGGGAAGGCTG	0.627																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1006-1008)tcC>tcT		oxysterol binding protein-like 2							100	97	98					20																	60861650		2203	4300	6503	SO:0001819	synonymous_variant	9885				lipid transport		lipid binding	g.chr20:60861650C>T	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.1008C>T	20.37:g.60861650C>T						OSBPL2_ENST00000439951.2_Silent_p.S244S|OSBPL2_ENST00000358053.2_Silent_p.S324S	p.S336S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		11	1210	+	Breast(26;7.76e-09)		336					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	c.1008C>T	CCDS13495.1																																																																																				0.627	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		178	764	0	0	0	1	0	178	764					T	60861650	C	T	60861650	2	4	79	1	0	0	0	0	0	0	0	1	11320	639	23	1		1	OSBPL2	20	60861650	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92990	60861650	2163870	20424	30741											
OSBPL2	9885	broad.mit.edu	37	chr20	60864297	60864297	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcactgtgagcctcaAcgagctggagacaggcatgg	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60864297A>G	ENST00000313733.3	+	12	1362	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	387					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTGAGCCTCAACGAGCTGGAG	0.582																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1159-1161)aAc>aGc		oxysterol binding protein-like 2							87	66	73					20																	60864297		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60864297A>G	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.1160A>G	20.37:g.60864297A>G	ENSP00000316649:p.Asn387Ser					OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.N375S	p.N387S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		12	1362	+	Breast(26;7.76e-09)		387					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.1160A>G	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.444091	0.83993	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.52983	0.64;0.64	4.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84747	0.0754	10	0.87932	D	0	-8.5733	13.2847	0.60237	1.0:0.0:0.0:0.0	.	375;387	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	S	375;387	ENSP00000350755:N375S;ENSP00000316649:N387S	ENSP00000316649:N387S	N	+	2	0	OSBPL2	60297692	1.000000	0.71417	0.612000	0.29024	0.971000	0.66376	9.136000	0.94489	1.686000	0.51046	0.459000	0.35465	AAC		0.582	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		15	104	0	0	0	1	0	15	104					G	60864297	A	G	60864297	3	3	79	1	0	0	0	0	1	0	0	0	11320	43	2	4	1202	4	OSBPL2	20	60864297	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2647	60864297	2161223	20425	30742											
LAMA5	3911	broad.mit.edu	37	chr20	60895841	60895841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcagacgggcccagGccatggagctggcattgatg	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60895841G>T	ENST00000252999.3	-	49	6668	c.6602C>A	c.(6601-6603)gCc>gAc	p.A2201D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2201	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)			ACGGGCCCAGGCCATGGAGCT	0.667																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(6601-6603)gCc>gAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						48	42	44					20																	60895841		2181	4279	6460	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895841G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6602C>A	20.37:g.60895841G>T	ENSP00000252999:p.Ala2201Asp						p.A2201D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		49	6668	-	Breast(26;1.57e-08)		2201			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6602C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	-	20.4	3.990041	0.74589	.	.	ENSG00000130702	ENST00000252999	T	0.12255	2.7	4.53	3.57	0.40892	Laminin I (1);	0.109081	0.64402	D	0.000008	T	0.30603	0.0770	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.03175	-1.1064	10	0.72032	D	0.01	.	13.0309	0.58840	0.0797:0.0:0.9203:0.0	.	2201	O15230	LAMA5_HUMAN	D	2201	ENSP00000252999:A2201D	ENSP00000252999:A2201D	A	-	2	0	LAMA5	60329236	1.000000	0.71417	0.988000	0.46212	0.390000	0.30446	6.143000	0.71756	1.119000	0.41883	0.537000	0.68136	GCC		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		50	227	1	0	6.08268e-21	1	6.83416e-21	50	227					T	60895841	G	T	60895841	3	4	79	1	0	0	0	0	1	0	0	0	8640	1203	42	3	4613	3	LAMA5	20	60895841	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31544	60895841	2129679	20426	30743											
LAMA5	3911	broad.mit.edu	37	chr20	60900582	60900582	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cgggacacagtgttgcgcgtCtccgtatgccggaagttccc	13	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60900582C>T	ENST00000252999.3	-	41	5385	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1773	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				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)			TGTTGCGCGTCTCCGTATGCC	0.617																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(5317-5319)gaG>gaA		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						64	49	54					20																	60900582		2203	4298	6501	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60900582C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5319G>A	20.37:g.60900582C>T							p.E1773E	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		41	5385	-	Breast(26;1.57e-08)		1773			Laminin IV type A.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.5319G>A	CCDS33502.1																																																																																				0.617	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		23	154	0	0	0	1	0	23	154					T	60900582	C	T	60900582	2	4	79	1	0	0	0	0	0	0	0	1	8640	912	32	2		2	LAMA5	20	60900582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4741	60900582	2124938	20427	30744											
LAMA5	3911	broad.mit.edu	37	chr20	60902995	60902995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtgacagtcacaggggCggcagcgggggtagccatgg	18	11	1	1	rs542983791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60902995C>T	ENST00000252999.3	-	36	4790	c.4724G>A	c.(4723-4725)cGc>cAc	p.R1575H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1575	Laminin EGF-like 14. {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)	p.R1575H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GTCACAGGGGCGGCAGCGGGG	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15938	0.0		0.0	False		,,,				2504	0.0					ENST00000252999.3																			1	Substitution - Missense(1)	p.R1575H(1)	prostate(1)	breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4723-4725)cGc>cAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						30	36	34					20																	60902995		2194	4289	6483	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60902995C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4724G>A	20.37:g.60902995C>T	ENSP00000252999:p.Arg1575His						p.R1575H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		36	4790	-	Breast(26;1.57e-08)		1575			Laminin EGF-like 14.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4724G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	3.127	-0.179311	0.06380	.	.	ENSG00000130702	ENST00000252999	T	0.55234	0.53	4.62	-3.75	0.04372	EGF-like, laminin (2);	0.165186	0.52532	N	0.000075	T	0.41050	0.1142	M	0.64260	1.97	0.58432	D	0.999998	B	0.13594	0.008	B	0.12837	0.008	T	0.25222	-1.0138	10	0.15952	T	0.53	.	10.799	0.46476	0.0:0.5224:0.0:0.4776	.	1575	O15230	LAMA5_HUMAN	H	1575	ENSP00000252999:R1575H	ENSP00000252999:R1575H	R	-	2	0	LAMA5	60336390	0.000000	0.05858	0.557000	0.28306	0.017000	0.09413	-0.706000	0.05047	-0.910000	0.03847	-1.008000	0.02478	CGC		0.682	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		15	388	0	0	0	1	0	15	388					T	60902995	C	T	60902995	3	4	79	1	0	0	0	0	1	0	0	0	8640	768	27	1	6543	1	LAMA5	20	60902995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2413	60902995	2122525	20428	30745											
LAMA5	3911	broad.mit.edu	37	chr20	60903983	60903983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcatggcagggacactggCccccgaagggctcacacgtg	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60903983C>T	ENST00000252999.3	-	34	4430	c.4364G>A	c.(4363-4365)gGc>gAc	p.G1455D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1455	Laminin EGF-like 12. {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)			GGGACACTGGCCCCCGAAGGG	0.627																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(4363-4365)gGc>gAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						49	51	50					20																	60903983		2202	4298	6500	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60903983C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4364G>A	20.37:g.60903983C>T	ENSP00000252999:p.Gly1455Asp						p.G1455D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		34	4430	-	Breast(26;1.57e-08)		1455			Laminin EGF-like 12.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4364G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515262	0.85389	.	.	ENSG00000130702	ENST00000252999	T	0.75589	-0.95	4.47	3.49	0.39957	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.90724	0.7089	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92980	0.6405	10	0.87932	D	0	.	13.4219	0.61003	0.1586:0.8414:0.0:0.0	.	1455	O15230	LAMA5_HUMAN	D	1455	ENSP00000252999:G1455D	ENSP00000252999:G1455D	G	-	2	0	LAMA5	60337378	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.245000	0.78237	0.794000	0.33899	0.455000	0.32223	GGC		0.627	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		76	288	0	0	0	1	0	76	288					T	60903983	C	T	60903983	3	4	79	1	0	0	0	0	1	0	0	0	8640	739	26	2	6911	2	LAMA5	20	60903983	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	988	60903983	2121537	20429	30746											
LAMA5	3911	broad.mit.edu	37	chr20	60906108	60906108	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttggggccaaaggcgccGtggctgctgatgcagctgac	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60906108G>A	ENST00000252999.3	-	29	3696	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1210	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAAAGGCGCCGTGGCTGCTGA	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(3628-3630)caC>caT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						21	24	23					20																	60906108		2196	4299	6495	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60906108G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3630C>T	20.37:g.60906108G>A							p.H1210H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		29	3696	-	Breast(26;1.57e-08)		1210			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.3630C>T	CCDS33502.1																																																																																				0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		23	86	0	0	0	1	0	23	86					A	60906108	G	A	60906108	2	1	79	1	0	0	0	0	0	0	0	1	8640	1136	40	1		1	LAMA5	20	60906108	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2125	60906108	2119412	20430	30747											
LAMA5	3911	broad.mit.edu	37	chr20	60913186	60913186	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagccctcgggcaaggttcCtgcagggctgcagccacaca	13	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60913186C>A	ENST00000252999.3	-	14	1843	c.1777G>T	c.(1777-1779)Gga>Tga	p.G593*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	593	Laminin EGF-like 6. {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)			GGCAAGGTTCCTGCAGGGCTG	0.672																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1777-1779)Gga>Tga		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						24	25	25					20																	60913186		2188	4291	6479	SO:0001587	stop_gained	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60913186C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1777G>T	20.37:g.60913186C>A	ENSP00000252999:p.Gly593*						p.G593*	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		14	1843	-	Breast(26;1.57e-08)		593			Laminin EGF-like 6.		Q8TDF8|Q8WZA7|Q9H1P1	Nonsense_Mutation	SNP	ENST00000252999.3	37	c.1777G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406667	0.97542	.	.	ENSG00000130702	ENST00000252999	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7301	0.57193	0.0:0.9138:0.0:0.0862	.	.	.	.	X	593	.	ENSP00000252999:G593X	G	-	1	0	LAMA5	60346581	1.000000	0.71417	0.933000	0.37362	0.047000	0.14425	6.650000	0.74368	2.456000	0.83038	0.585000	0.79938	GGA		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		19	64	1	0	1.15919e-05	1	1.1882e-05	19	64					A	60913186	C	A	60913186	4	1	79	1	0	0	0	0	0	1	0	0	8640	690	24	3	9578	3	LAMA5	20	60913186	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7078	60913186	2112334	20431	30748											
LAMA5	3911	broad.mit.edu	37	chr20	60921612	60921612	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttgggagagcggtagaagCcgggcaggcagcgctcacag	19	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60921612C>T	ENST00000252999.3	-	9	1298	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	411	Laminin EGF-like 2. {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)			GCGGTAGAAGCCGGGCAGGCA	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1231-1233)gGc>gAc		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						64	75	71					20																	60921612		2145	4209	6354	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60921612C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1232G>A	20.37:g.60921612C>T	ENSP00000252999:p.Gly411Asp					LAMA5_ENST00000370677.3_Missense_Mutation_p.G411D|LAMA5_ENST00000370692.3_Missense_Mutation_p.G411D	p.G411D	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		9	1298	-	Breast(26;1.57e-08)		411			Laminin EGF-like 2.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.1232G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942024	0.73557	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.66995	-0.24;-0.24;-0.24	4.63	4.63	0.57726	EGF-like, laminin (4);	0.111433	0.64402	D	0.000009	D	0.85902	0.5805	M	0.92970	3.365	0.54753	D	0.999987	D	0.89917	1.0	D	0.80764	0.994	D	0.89939	0.4071	10	0.72032	D	0.01	.	17.4691	0.87641	0.0:1.0:0.0:0.0	.	411	O15230	LAMA5_HUMAN	D	411	ENSP00000252999:G411D;ENSP00000359726:G411D;ENSP00000359711:G411D	ENSP00000252999:G411D	G	-	2	0	LAMA5	60355007	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	3.287000	0.51732	2.117000	0.64856	0.561000	0.74099	GGC		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		6	42	0	0	0	1	0	6	42					T	60921612	C	T	60921612	3	4	79	1	0	0	0	0	1	0	0	0	8640	739	26	2	10143	2	LAMA5	20	60921612	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8426	60921612	2103908	20432	30749											
LAMA5	3911	broad.mit.edu	37	chr20	60922054	60922054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcggtcgcaggtgcccccGcaggtgttgtgctggcaggt	17	12	0	0	rs373324316		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60922054G>A	ENST00000252999.3	-	7	1053	c.987C>T	c.(985-987)tgC>tgT	p.C329C	LAMA5_ENST00000370677.3_Silent_p.C329C|LAMA5_ENST00000370692.3_Silent_p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	329	Laminin EGF-like 1. {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)			AGGTGCCCCCGCAGGTGTTGT	0.662																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(985-987)tgC>tgT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		1,4403	2.1+/-5.4	0,1,2201	34	35	34		987	-6.9	0.1	20		34	0,8584		0,0,4292	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		329/3696	60922054	1,12987	2202	4292	6494	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60922054G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.987C>T	20.37:g.60922054G>A						LAMA5_ENST00000370677.3_Silent_p.C329C|LAMA5_ENST00000370692.3_Silent_p.C329C	p.C329C	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		7	1053	-	Breast(26;1.57e-08)		329			Laminin EGF-like 1.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.987C>T	CCDS33502.1																																																																																				0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		35	163	0	0	0	1	0	35	163					A	60922054	G	A	60922054	2	1	79	1	0	0	0	0	0	0	0	1	8640	1079	38	1		1	LAMA5	20	60922054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	442	60922054	2103466	20433	30750											
LAMA5	3911	broad.mit.edu	37	chr20	60926993	60926993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgtggggtcccgcagcGccttccccatgagatggccc	13	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60926993G>A	ENST00000252999.3	-	5	896	c.830C>T	c.(829-831)gCg>gTg	p.A277V	RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000477848.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	277	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			GTCCCGCAGCGCCTTCCCCAT	0.697																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(829-831)gCg>gTg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						43	33	36					20																	60926993		2200	4289	6489	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60926993G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.830C>T	20.37:g.60926993G>A	ENSP00000252999:p.Ala277Val					LAMA5_ENST00000370677.3_Missense_Mutation_p.A277V|LAMA5_ENST00000370692.3_Missense_Mutation_p.A277V	p.A277V	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		5	896	-	Breast(26;1.57e-08)		277			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.830C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	34	5.382019	0.95967	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.36878	2.08;1.23;1.33	4.24	4.24	0.50183	Laminin, N-terminal (3);	0.117957	0.56097	U	0.000021	T	0.49115	0.1538	L	0.35341	1.055	0.54753	D	0.999988	D	0.89917	1.0	D	0.71414	0.973	T	0.54899	-0.8224	10	0.72032	D	0.01	.	16.6321	0.85036	0.0:0.0:1.0:0.0	.	277	O15230	LAMA5_HUMAN	V	277	ENSP00000252999:A277V;ENSP00000359726:A277V;ENSP00000359711:A277V	ENSP00000252999:A277V	A	-	2	0	LAMA5	60360388	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.737000	0.98831	1.915000	0.55452	0.486000	0.48141	GCG		0.697	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		25	91	0	0	0	1	0	25	91					A	60926993	G	A	60926993	3	1	79	1	0	0	0	0	1	0	0	0	8640	1087	38	1	10561	1	LAMA5	20	60926993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4939	60926993	2098527	20434	30751											
LAMA5	3911	broad.mit.edu	37	chr20	60927304	60927304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccccggcccacctctccGttctccaggggcacgatgcg	10	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60927304G>A	ENST00000252999.3	-	4	747	c.681C>T	c.(679-681)aaC>aaT	p.N227N	RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370677.3_Silent_p.N227N|LAMA5_ENST00000370692.3_Silent_p.N227N|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000478167.1_RNA|RP11-157P1.5_ENST00000477848.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	227	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			ccacctctccGTTCTCCAGGG	0.692																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(679-681)aaC>aaT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						47	43	44					20																	60927304		2202	4293	6495	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60927304G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.681C>T	20.37:g.60927304G>A						LAMA5_ENST00000370677.3_Silent_p.N227N|LAMA5_ENST00000370692.3_Silent_p.N227N	p.N227N	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	747	-	Breast(26;1.57e-08)		227			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.681C>T	CCDS33502.1																																																																																				0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		45	117	0	0	0	1	0	45	117					A	60927304	G	A	60927304	2	1	79	1	0	0	0	0	0	0	0	1	8640	1136	40	1		1	LAMA5	20	60927304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	60927304	2098216	20435	30752											
SLCO4A1	28231	broad.mit.edu	37	chr20	61303134	61303134	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctttgccatagcctgCttcttatacaagcccctgtc	5	15	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61303134C>T	ENST00000370507.1	+	11	2154	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	SLCO4A1_ENST00000217159.1_Silent_p.C686C			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	686					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)	CCATAGCCTGCTTCTTATACA	0.607																																					Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(2056-2058)tgC>tgT		solute carrier organic anion transporter family, member 4A1							97	96	97					20																	61303134		2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61303134C>T	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.2058C>T	20.37:g.61303134C>T						SLCO4A1_ENST00000370507.1_Silent_p.C686C	p.C686C	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		12	2263	+	Breast(26;3.65e-08)		686					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.2058C>T	CCDS13501.1																																																																																				0.607	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		71	822	0	0	0	1	0	71	822					T	61303134	C	T	61303134	2	4	79	1	0	0	0	0	0	0	0	1	14779	805	28	2		2	SLCO4A1	20	61303134	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	375830	61303134	1722386	20436	30753											
OGFR	11054	broad.mit.edu	37	chr20	61443875	61443875	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctctctgccccatcCgctcgagggctccaggaagg	12	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61443875C>T	ENST00000290291.6	+	7	933	c.908C>T	c.(907-909)cCg>cTg	p.P303L	OGFR_ENST00000370461.1_Missense_Mutation_p.P251L	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	303					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)					CTGCCCCATCCGCTCGAGGGC	0.677																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(751-753)cCg>cTg		opioid growth factor receptor							8	8	8					20																	61443875		2167	4243	6410	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61443875C>T	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.908C>T	20.37:g.61443875C>T	ENSP00000290291:p.Pro303Leu					OGFR_ENST00000370468.3_Missense_Mutation_p.P303L|OGFR_ENST00000290291.6_Missense_Mutation_p.P303L	p.P251L			Q9NZT2	OGFR_HUMAN			5	3029	+	Breast(26;3.65e-08)		303					O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.752C>T	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268057	0.23136	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.41758	1.97;0.99;1.53	4.31	-3.48	0.04739	.	0.418121	0.17082	N	0.187748	T	0.17704	0.0425	N	0.17474	0.49	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.06770	-1.0808	10	0.48119	T	0.1	-2.4852	0.6694	0.00856	0.3498:0.1736:0.1162:0.3604	.	303;286;303	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	L	303;303;303;158;251	ENSP00000290291:P303L;ENSP00000359499:P303L;ENSP00000359491:P251L	ENSP00000290291:P303L	P	+	2	0	OGFR	60914320	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-0.506000	0.06558	-1.036000	0.02392	CCG		0.677	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			12	43	0	0	0	1	0	12	43					T	61443875	C	T	61443875	3	4	79	1	0	0	0	0	1	0	0	0	10885	652	23	1	934	1	OGFR	20	61443875	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	140741	61443875	1581645	20437	30754											
TCFL5	10732	broad.mit.edu	37	chr20	61488887	61488887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtggcggtggcaccttcGcccacattctgaatctctcc	10	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61488887G>A	ENST00000335351.3	-	4	1190	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_ENST00000217162.5_Silent_p.G318G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	366					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G366G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGGCACCTTCGCCCACATTCT	0.582																																						ENST00000335351.3																			1	Substitution - coding silent(1)	p.G366G(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9						c.(1096-1098)ggC>ggT		transcription factor-like 5 (basic helix-loop-helix)							114	106	108					20																	61488887		2203	4300	6503	SO:0001819	synonymous_variant	10732				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:61488887G>A	AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"Basic helix-loop-helix proteins"	11646	protein-coding gene	gene with protein product	"HPV-16 E2 binding protein 1"	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1098C>T	20.37:g.61488887G>A						TCFL5_ENST00000217162.5_Silent_p.G318G	p.G366G	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN			4	1190	-	Breast(26;5.68e-08)		366					O94771|Q9BYW0	Silent	SNP	ENST00000335351.3	37	c.1098C>T	CCDS13506.1																																																																																				0.582	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080079.2	NM_006602		113	493	0	0	0	1	0	113	493					A	61488887	G	A	61488887	2	1	79	1	0	0	0	0	0	0	0	1	15751	1074	38	1		1	TCFL5	20	61488887	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45012	61488887	1536633	20438	30755											
DIDO1	11083	broad.mit.edu	37	chr20	61511392	61511392	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtgaatcttggtggtgaatgGaccctctggtcttcgaactg	13	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61511392G>A	ENST00000266070.4	-	16	6241	c.5916C>T	c.(5914-5916)gtC>gtT	p.V1972V	DIDO1_ENST00000395343.1_Silent_p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1972	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)					GTGGTGAATGGACCCTCTGGT	0.562																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5914-5916)gtC>gtT		death inducer-obliterator 1							131	153	146					20																	61511392		2203	4298	6501	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511392G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5916C>T	20.37:g.61511392G>A						DIDO1_ENST00000395343.1_Silent_p.V1972V	p.V1972V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6241	-	Breast(26;5.68e-08)		1972			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5916C>T	CCDS33506.1																																																																																				0.562	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		248	1165	0	0	0	1	0	248	1165					A	61511392	G	A	61511392	2	1	79	1	0	0	0	0	0	0	0	1	4538	1161	41	2		2	DIDO1	20	61511392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22505	61511392	1514128	20439	30756											
DIDO1	11083	broad.mit.edu	37	chr20	61512121	61512121	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcggggcggtgccctcgccGggtctggcctgtggctctct	17	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512121G>A	ENST00000266070.4	-	16	5512	c.5187C>T	c.(5185-5187)ccC>ccT	p.P1729P	DIDO1_ENST00000395343.1_Silent_p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1729	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)					TGCCCTCGCCGGGTCTGGCCT	0.637																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5185-5187)ccC>ccT		death inducer-obliterator 1							56	68	64					20																	61512121		2203	4297	6500	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512121G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5187C>T	20.37:g.61512121G>A						DIDO1_ENST00000395343.1_Silent_p.P1729P	p.P1729P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5512	-	Breast(26;5.68e-08)		1729			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5187C>T	CCDS33506.1																																																																																				0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		143	589	0	0	0	1	0	143	589					A	61512121	G	A	61512121	2	1	79	1	0	0	0	0	0	0	0	1	4538	1103	39	1		1	DIDO1	20	61512121	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	729	61512121	1513399	20440	30757											
DIDO1	11083	broad.mit.edu	37	chr20	61512142	61512142	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctggcctgtggctctctGtccccctctgtttcacctgc	10	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512142G>A	ENST00000266070.4	-	16	5491	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	DIDO1_ENST00000395343.1_Silent_p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1722					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)					GTGGCTCTCTGTCCCCCTCTG	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5164-5166)gaC>gaT		death inducer-obliterator 1							64	75	71					20																	61512142		2202	4299	6501	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512142G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5166C>T	20.37:g.61512142G>A						DIDO1_ENST00000395343.1_Silent_p.D1722D	p.D1722D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5491	-	Breast(26;5.68e-08)		1722					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5166C>T	CCDS33506.1																																																																																				0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		121	588	0	0	0	1	0	121	588					A	61512142	G	A	61512142	2	1	79	1	0	0	0	0	0	0	0	1	4538	1368	48	2		2	DIDO1	20	61512142	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	61512142	1513378	20441	30758											
DIDO1	11083	broad.mit.edu	37	chr20	61513253	61513253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acggaggtgccggcaccccgTcctctgctgtggttttgggc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513253T>C	ENST00000266070.4	-	16	4380	c.4055A>G	c.(4054-4056)gAc>gGc	p.D1352G	DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1352					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)					CGGCACCCCGTCCTCTGCTGT	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4054-4056)gAc>gGc		death inducer-obliterator 1							87	103	98					20																	61513253		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513253T>C	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.4055A>G	20.37:g.61513253T>C	ENSP00000266070:p.Asp1352Gly					DIDO1_ENST00000395343.1_Missense_Mutation_p.D1352G	p.D1352G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4380	-	Breast(26;5.68e-08)		1352					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4055A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	9.718	1.158989	0.21454	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08193	3.12;3.12	5.4	0.574	0.17368	.	0.754501	0.11133	N	0.596070	T	0.02807	0.0084	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.46162	-0.9211	10	0.27082	T	0.32	-12.7922	5.3733	0.16152	0.0:0.3899:0.1524:0.4577	.	1352	Q9BTC0	DIDO1_HUMAN	G	1352	ENSP00000266070:D1352G;ENSP00000378752:D1352G	ENSP00000266070:D1352G	D	-	2	0	DIDO1	60983698	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.089000	0.11180	-0.059000	0.13154	0.460000	0.39030	GAC		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		172	726	0	0	0	1	0	172	726					C	61513253	T	C	61513253	3	2	79	1	0	0	0	0	1	0	0	0	4538	1667	58	4	2671	4	DIDO1	20	61513253	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1111	61513253	1512267	20442	30759											
DIDO1	11083	broad.mit.edu	37	chr20	61513636	61513636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttttggataggccggaacGtccgcttcttccggttgaag	12	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513636G>A	ENST00000266070.4	-	16	3997	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	DIDO1_ENST00000395343.1_Silent_p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1224					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)					AGGCCGGAACGTCCGCTTCTT	0.532																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3670-3672)gaC>gaT		death inducer-obliterator 1							91	100	97					20																	61513636		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513636G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3672C>T	20.37:g.61513636G>A						DIDO1_ENST00000395343.1_Silent_p.D1224D	p.D1224D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	3997	-	Breast(26;5.68e-08)		1224					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.3672C>T	CCDS33506.1																																																																																				0.532	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		169	652	0	0	0	1	0	169	652					A	61513636	G	A	61513636	2	1	79	1	0	0	0	0	0	0	0	1	4538	1136	40	1		1	DIDO1	20	61513636	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	383	61513636	1511884	20443	30760											
DIDO1	11083	broad.mit.edu	37	chr20	61522306	61522306	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccacccagaaagccggcGcttacctggtccctcaaagg	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61522306G>A	ENST00000266070.4	-	15	3867				DIDO1_ENST00000395335.2_Missense_Mutation_p.R1183C|DIDO1_ENST00000395343.1_Intron|DIDO1_ENST00000395340.1_Missense_Mutation_p.R1183C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						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)					GAAAGCCGGCGCTTACCTGGT	0.617																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000395335.2																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3547-3549)Cgc>Tgc		death inducer-obliterator 1							70	70	70					20																	61522306		2203	4300	6503	SO:0001627	intron_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61522306G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3541+5C>T	20.37:g.61522306G>A						DIDO1_ENST00000395340.1_Missense_Mutation_p.R1183C|DIDO1_ENST00000266070.4_Intron|DIDO1_ENST00000395343.1_Intron	p.R1183C	NM_080797.3	NP_542987.2	Q9BTC0	DIDO1_HUMAN			15	3872	-	Breast(26;5.68e-08)		0					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3547C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121127	0.37436	.	.	ENSG00000101191	ENST00000395340;ENST00000395335	T;T	0.13420	2.59;2.59	5.14	4.19	0.49359	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.80722	D	1	B	0.17465	0.022	B	0.10450	0.005	T	0.05068	-1.0908	8	0.42905	T	0.14	.	12.0542	0.53524	0.0804:0.0:0.9196:0.0	.	1183	Q9BTC0-1	.	C	1183	ENSP00000378749:R1183C;ENSP00000378744:R1183C	ENSP00000378744:R1183C	R	-	1	0	DIDO1	60992751	1.000000	0.71417	0.565000	0.28409	0.203000	0.24098	4.394000	0.59671	1.290000	0.44636	0.655000	0.94253	CGC		0.617	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		55	247	0	0	0	1	0	55	247					A	61522306	G	A	61522306	1	1	79	0	1	0	0	0	0	0	0	0	4538	1087	38	1		1	DIDO1	20	61522306	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8670	61522306	1503214	20444	30761											
DIDO1	11083	broad.mit.edu	37	chr20	61525063	61525063	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acaggtatcttgggtcaggaGatgaggatggcttagctagt	15	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525063G>A	ENST00000266070.4	-	12	3381	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1019					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)					TGGGTCAGGAGATGAGGATGG	0.488																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3055-3057)tCt>tTt		death inducer-obliterator 1							111	93	99					20																	61525063		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525063G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3056C>T	20.37:g.61525063G>A	ENSP00000266070:p.Ser1019Phe					DIDO1_ENST00000395335.2_Missense_Mutation_p.S1019F|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1019F|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1019F	p.S1019F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3381	-	Breast(26;5.68e-08)		1019					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3056C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277045	0.40294	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.13089	2.93;2.93;2.62;2.62	5.95	4.82	0.62117	.	0.220212	0.22789	U	0.055622	T	0.29652	0.0740	M	0.66939	2.045	0.46954	D	0.999263	D;D	0.64830	0.992;0.994	P;P	0.57502	0.822;0.809	T	0.00655	-1.1624	10	0.72032	D	0.01	-45.4857	13.2992	0.60315	0.0851:0.0:0.9149:0.0	.	1019;1019	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	F	1019	ENSP00000266070:S1019F;ENSP00000378752:S1019F;ENSP00000378749:S1019F;ENSP00000378744:S1019F	ENSP00000266070:S1019F	S	-	2	0	DIDO1	60995508	1.000000	0.71417	0.111000	0.21465	0.014000	0.08584	5.485000	0.66850	2.824000	0.97209	0.655000	0.94253	TCT		0.488	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		108	408	0	0	0	1	0	108	408					A	61525063	G	A	61525063	3	1	79	1	0	0	0	0	1	0	0	0	4538	942	33	2	3715	2	DIDO1	20	61525063	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2757	61525063	1500457	20445	30762											
DIDO1	11083	broad.mit.edu	37	chr20	61525105	61525105	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggacttgggcaccatcacaGaagtcaagacaggcttcggc	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525105G>T	ENST00000266070.4	-	12	3339	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1005					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)					CACCATCACAGAAGTCAAGAC	0.557																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3013-3015)tCt>tAt		death inducer-obliterator 1							127	105	112					20																	61525105		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525105G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3014C>A	20.37:g.61525105G>T	ENSP00000266070:p.Ser1005Tyr					DIDO1_ENST00000395335.2_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395340.1_Missense_Mutation_p.S1005Y|DIDO1_ENST00000395343.1_Missense_Mutation_p.S1005Y	p.S1005Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			12	3339	-	Breast(26;5.68e-08)		1005					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3014C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297133	0.60086	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12672	3.01;3.01;2.66;2.66	5.95	5.95	0.96441	.	0.429288	0.17073	U	0.188086	T	0.26412	0.0645	L	0.57536	1.79	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.54100	0.742;0.556	T	0.11372	-1.0590	10	0.72032	D	0.01	-18.7404	12.7851	0.57500	0.0:0.0:0.8365:0.1635	.	1005;1005	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	Y	1005	ENSP00000266070:S1005Y;ENSP00000378752:S1005Y;ENSP00000378749:S1005Y;ENSP00000378744:S1005Y	ENSP00000266070:S1005Y	S	-	2	0	DIDO1	60995550	0.273000	0.24181	0.008000	0.14137	0.001000	0.01503	3.724000	0.54962	2.824000	0.97209	0.655000	0.94253	TCT		0.557	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		103	473	1	0	6.23761e-45	1	7.63986e-45	103	473					T	61525105	G	T	61525105	3	4	79	1	0	0	0	0	1	0	0	0	4538	942	33	3	3757	3	DIDO1	20	61525105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	61525105	1500415	20446	30763											
DIDO1	11083	broad.mit.edu	37	chr20	61528081	61528081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggcagccgttgccgctGcaggtgccggtccggcctgc	17	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61528081G>A	ENST00000266070.4	-	7	2181	c.1856C>T	c.(1855-1857)gCa>gTa	p.A619V	DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	619					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)					CGTTGCCGCTGCAGGTGCCGG	0.642																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1855-1857)gCa>gTa		death inducer-obliterator 1							48	53	51					20																	61528081		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61528081G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1856C>T	20.37:g.61528081G>A	ENSP00000266070:p.Ala619Val					DIDO1_ENST00000395335.2_Missense_Mutation_p.A619V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A619V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A619V	p.A619V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			7	2181	-	Breast(26;5.68e-08)		619					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1856C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634833	0.29068	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.11604	3.11;3.11;2.76;2.76	5.71	-8.92	0.00774	.	0.584787	0.12503	N	0.463129	T	0.05227	0.0139	N	0.21448	0.665	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.28618	-1.0038	10	0.23891	T	0.37	0.6734	10.4715	0.44640	0.519:0.2212:0.2597:0.0	.	619;619	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	V	619	ENSP00000266070:A619V;ENSP00000378752:A619V;ENSP00000378749:A619V;ENSP00000378744:A619V	ENSP00000266070:A619V	A	-	2	0	DIDO1	60998526	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-2.225000	0.00724	-0.768000	0.03414	GCA		0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		105	463	0	0	0	1	0	105	463					A	61528081	G	A	61528081	3	1	79	1	0	0	0	0	1	0	0	0	4538	1319	46	2	4935	2	DIDO1	20	61528081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2976	61528081	1497439	20447	30764											
DIDO1	11083	broad.mit.edu	37	chr20	61537393	61537393	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaccactgccttcttcacTgtggtctcttttttttctgg	6	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61537393T>C	ENST00000266070.4	-	6	1759	c.1434A>G	c.(1432-1434)acA>acG	p.T478T	DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T|DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000370371.4_Silent_p.T478T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	478					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)					CCTTCTTCACTGTGGTCTCTT	0.488																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1432-1434)acA>acG		death inducer-obliterator 1							108	115	113					20																	61537393		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61537393T>C	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.1434A>G	20.37:g.61537393T>C						DIDO1_ENST00000370371.4_Silent_p.T478T|DIDO1_ENST00000370366.1_Silent_p.T478T|DIDO1_ENST00000266071.5_Silent_p.T478T|DIDO1_ENST00000395335.2_Silent_p.T478T|DIDO1_ENST00000354665.4_Silent_p.T478T|DIDO1_ENST00000370368.1_Silent_p.T478T|DIDO1_ENST00000395340.1_Silent_p.T478T|DIDO1_ENST00000395343.1_Silent_p.T478T	p.T478T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			6	1759	-	Breast(26;5.68e-08)		478					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.1434A>G	CCDS33506.1																																																																																				0.488	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		12	691	0	0	0	1	0	12	691					C	61537393	T	C	61537393	2	2	79	1	0	0	0	0	0	0	0	1	4538	1567	55	4		4	DIDO1	20	61537393	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	9312	61537393	1488127	20448	30765											
DIDO1	11083	broad.mit.edu	37	chr20	61541345	61541345	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatcgccatgaaaccattcTtcacagcggtcacagcaaat	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61541345T>A	ENST00000266070.4	-	4	1192	c.867A>T	c.(865-867)gaA>gaT	p.E289D	DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	289					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)					GAAACCATTCTTCACAGCGGT	0.428																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(865-867)gaA>gaT		death inducer-obliterator 1							68	68	68					20																	61541345		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61541345T>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.867A>T	20.37:g.61541345T>A	ENSP00000266070:p.Glu289Asp					DIDO1_ENST00000370371.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370366.1_Missense_Mutation_p.E289D|DIDO1_ENST00000266071.5_Missense_Mutation_p.E289D|DIDO1_ENST00000395335.2_Missense_Mutation_p.E289D|DIDO1_ENST00000354665.4_Missense_Mutation_p.E289D|DIDO1_ENST00000370368.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395340.1_Missense_Mutation_p.E289D|DIDO1_ENST00000395343.1_Missense_Mutation_p.E289D	p.E289D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			4	1192	-	Breast(26;5.68e-08)		289					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.867A>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993549	0.54041	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	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	5.54	0.131	0.14755	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	0.44097	D	0.000481	T	0.46541	0.1398	L	0.31207	0.915	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.982;0.982;0.975;0.994	T	0.19647	-1.0299	10	0.38643	T	0.18	-43.9968	11.2889	0.49239	0.0:0.4749:0.0:0.5251	.	289;289;289;289	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	D	289	ENSP00000266070:E289D;ENSP00000378752:E289D;ENSP00000378749:E289D;ENSP00000378744:E289D;ENSP00000359397:E289D;ENSP00000359394:E289D;ENSP00000346692:E289D;ENSP00000359391:E289D;ENSP00000266071:E289D	ENSP00000266070:E289D	E	-	3	2	DIDO1	61011790	0.845000	0.29573	0.996000	0.52242	0.145000	0.21501	-0.014000	0.12656	-0.161000	0.10983	-0.366000	0.07423	GAA		0.428	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		87	303	0	0	0	1	0	87	303					A	61541345	T	A	61541345	3	1	79	1	0	0	0	0	1	0	0	0	4538	1606	56	5	6037	5	DIDO1	20	61541345	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3952	61541345	1484175	20449	30766											
DIDO1	11083	broad.mit.edu	37	chr20	61542332	61542332	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcttactgggcaggacGccctccacagtgtcactggc	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542332G>A	ENST00000266070.4	-	3	958	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000370371.4_Silent_p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	211					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.G211G(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)					TGGGCAGGACGCCCTCCACAG	0.637																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - coding silent(1)	p.G211G(1)	large_intestine(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						c.(631-633)ggC>ggT		death inducer-obliterator 1							59	63	62					20																	61542332		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542332G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.633C>T	20.37:g.61542332G>A						DIDO1_ENST00000370371.4_Silent_p.G211G|DIDO1_ENST00000370366.1_Silent_p.G211G|DIDO1_ENST00000266071.5_Silent_p.G211G|DIDO1_ENST00000395335.2_Silent_p.G211G|DIDO1_ENST00000354665.4_Silent_p.G211G|DIDO1_ENST00000370368.1_Silent_p.G211G|DIDO1_ENST00000395340.1_Silent_p.G211G|DIDO1_ENST00000395343.1_Silent_p.G211G	p.G211G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	958	-	Breast(26;5.68e-08)		211					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.633C>T	CCDS33506.1																																																																																				0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		73	344	0	0	0	1	0	73	344					A	61542332	G	A	61542332	2	1	79	1	0	0	0	0	0	0	0	1	4538	1074	38	1		1	DIDO1	20	61542332	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	987	61542332	1483188	20450	30767											
DIDO1	11083	broad.mit.edu	37	chr20	61542497	61542497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcaaggtcaggccatcGctgtcactatcggaggtgtc	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542497G>A	ENST00000266070.4	-	3	793	c.468C>T	c.(466-468)agC>agT	p.S156S	DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000370371.4_Silent_p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	156					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)					TCAGGCCATCGCTGTCACTAT	0.587																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(466-468)agC>agT		death inducer-obliterator 1							93	72	80					20																	61542497		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542497G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.468C>T	20.37:g.61542497G>A						DIDO1_ENST00000370371.4_Silent_p.S156S|DIDO1_ENST00000370366.1_Silent_p.S156S|DIDO1_ENST00000266071.5_Silent_p.S156S|DIDO1_ENST00000395335.2_Silent_p.S156S|DIDO1_ENST00000354665.4_Silent_p.S156S|DIDO1_ENST00000370368.1_Silent_p.S156S|DIDO1_ENST00000395340.1_Silent_p.S156S|DIDO1_ENST00000395343.1_Silent_p.S156S	p.S156S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	793	-	Breast(26;5.68e-08)		156					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.468C>T	CCDS33506.1																																																																																				0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		97	346	0	0	0	1	0	97	346					A	61542497	G	A	61542497	2	1	79	1	0	0	0	0	0	0	0	1	4538	1078	38	1		1	DIDO1	20	61542497	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165	61542497	1483023	20451	30768											
DIDO1	11083	broad.mit.edu	37	chr20	61542721	61542721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcctgccgcggcgccGcgcaatggtcaggaactgct	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542721G>A	ENST00000266070.4	-	3	569	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	82					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)					CCGCGGCGCCGCGCAATGGTC	0.711																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(244-246)Cgg>Tgg		death inducer-obliterator 1							28	28	28					20																	61542721		2201	4297	6498	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542721G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.244C>T	20.37:g.61542721G>A	ENSP00000266070:p.Arg82Trp					DIDO1_ENST00000370371.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370366.1_Missense_Mutation_p.R82W|DIDO1_ENST00000266071.5_Missense_Mutation_p.R82W|DIDO1_ENST00000395335.2_Missense_Mutation_p.R82W|DIDO1_ENST00000354665.4_Missense_Mutation_p.R82W|DIDO1_ENST00000370368.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395340.1_Missense_Mutation_p.R82W|DIDO1_ENST00000395343.1_Missense_Mutation_p.R82W	p.R82W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	569	-	Breast(26;5.68e-08)		82					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.244C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805430	0.50315	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.26223	2.58;2.58;2.27;2.27;1.75;1.75;1.75;1.77;1.77	5.83	3.76	0.43208	.	0.000000	0.38663	U	0.001609	T	0.49133	0.1539	M	0.72118	2.19	0.38829	D	0.955809	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;0.997	T	0.55309	-0.8161	10	0.87932	D	0	-23.3203	13.2476	0.60031	0.0:0.0:0.5804:0.4196	.	82;82;82;82	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	W	82	ENSP00000266070:R82W;ENSP00000378752:R82W;ENSP00000378749:R82W;ENSP00000378744:R82W;ENSP00000359397:R82W;ENSP00000359394:R82W;ENSP00000346692:R82W;ENSP00000359391:R82W;ENSP00000266071:R82W	ENSP00000266070:R82W	R	-	1	2	DIDO1	61013166	0.997000	0.39634	0.016000	0.15963	0.030000	0.12068	3.413000	0.52686	0.774000	0.33427	0.655000	0.94253	CGG		0.711	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		45	178	0	0	0	1	0	45	178					A	61542721	G	A	61542721	3	1	79	1	0	0	0	0	1	0	0	0	4538	1086	38	1	6664	1	DIDO1	20	61542721	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224	61542721	1482799	20452	30769											
SLC17A9	63910	broad.mit.edu	37	chr20	61594714	61594714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacggctcttccggaagcctGctgtctggtgagctgggacc	15	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61594714G>A	ENST00000370351.4	+	6	849	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.A234T	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	240					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						CCGGAAGCCTGCTGTCTGGTG	0.662																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(700-702)Gct>Act		solute carrier family 17 (vesicular nucleotide transporter), member 9							35	40	39					20																	61594714		1988	4153	6141	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594714G>A	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.718G>A	20.37:g.61594714G>A	ENSP00000359376:p.Ala240Thr					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.A240T	p.A234T			Q9BYT1	S17A9_HUMAN			7	904	+			240					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.700G>A	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881654	0.51908	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.58506	0.33;0.33	4.86	-0.457	0.12186	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169290	0.52532	D	0.000070	T	0.62600	0.2441	M	0.69523	2.12	0.39879	D	0.973615	P;B;B	0.35033	0.481;0.17;0.294	P;P;B	0.48982	0.597;0.474;0.343	T	0.62388	-0.6865	10	0.72032	D	0.01	.	6.8034	0.23764	0.0:0.1911:0.6399:0.169	.	260;240;234	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	T	240;234	ENSP00000359376:A240T;ENSP00000359374:A234T	ENSP00000359374:A234T	A	+	1	0	SLC17A9	61065159	0.865000	0.29922	0.985000	0.45067	0.768000	0.43524	1.349000	0.33998	-0.045000	0.13468	0.313000	0.20887	GCT		0.662	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		28	143	0	0	0	1	0	28	143					A	61594714	G	A	61594714	3	1	79	1	0	0	0	0	1	0	0	0	14474	1319	46	2	740	2	SLC17A9	20	61594714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51993	61594714	1430806	20453	30770											
SLC17A9	63910	broad.mit.edu	37	chr20	61598818	61598818	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtttggacaggctcagaGggtggacctgagctctaccc	15	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61598818G>T	ENST00000370351.4	+	13	1408	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.R420M	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	426					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						CAGGCTCAGAGGGTGGACCTG	0.612																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(1258-1260)aGg>aTg		solute carrier family 17 (vesicular nucleotide transporter), member 9							141	151	148					20																	61598818		2075	4199	6274	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61598818G>T	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.1277G>T	20.37:g.61598818G>T	ENSP00000359376:p.Arg426Met					SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R426M	p.R420M			Q9BYT1	S17A9_HUMAN			14	1463	+			426					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.1259G>T	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904909	0.72868	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62941	-0.01;-0.01	4.9	3.95	0.45737	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.83012	2.62	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.984;0.987	T	0.81571	-0.0872	10	0.62326	D	0.03	.	13.016	0.58757	0.0785:0.0:0.9215:0.0	.	426;420	Q9BYT1;Q9BYT1-2	S17A9_HUMAN;.	M	426;420	ENSP00000359376:R426M;ENSP00000359374:R420M	ENSP00000359374:R420M	R	+	2	0	SLC17A9	61069263	1.000000	0.71417	0.592000	0.28758	0.922000	0.55478	8.223000	0.89779	1.053000	0.40415	0.561000	0.74099	AGG		0.612	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		63	593	1	0	1.53716e-24	1	1.75837e-24	63	593					T	61598818	G	T	61598818	3	4	79	1	0	0	0	0	1	0	0	0	14474	1000	35	3	1327	3	SLC17A9	20	61598818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4104	61598818	1426702	20454	30771											
BHLHE23	128408	broad.mit.edu	37	chr20	61637625	61637625	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagggcctgcgcctgcatgaGgatatagttcttggcgagca	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61637625G>T	ENST00000370346.2	-	1	762	c.454C>A	c.(454-456)Ctc>Atc	p.L152I		NM_080606.3	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	152	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)	1						GCCTGCATGAGGATATAGTTC	0.697																																						ENST00000370346.2																			0				NS(1)	1						c.(454-456)Ctc>Atc		basic helix-loop-helix family, member e23							25	24	24					20																	61637625		2200	4297	6497	SO:0001583	missense	128408				transcription, DNA-dependent	nucleus	DNA binding	g.chr20:61637625G>T	AL121673	CCDS33507.1, CCDS33507.2	20q13.33	2009-01-12	2009-01-12	2009-01-12	ENSG00000125533	ENSG00000125533		"Basic helix-loop-helix proteins"	16093	protein-coding gene	gene with protein product		609331	"basic helix-loop-helix domain containing, class B, 4"	BHLHB4		11863370, 18557763	Standard	NM_080606		Approved	bA305P22.3, Beta4, bHLHe23	uc002yeb.2	Q8NDY6	OTTHUMG00000032948	ENST00000370346.2:c.454C>A	20.37:g.61637625G>T	ENSP00000359371:p.Leu152Ile						p.L152I	NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN			1	762	-			152			Helix-loop-helix motif.		B2RP69	Missense_Mutation	SNP	ENST00000370346.2	37	c.454C>A	CCDS33507.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795670	0.70452	.	.	ENSG00000125533	ENST00000370346	D	0.98060	-4.69	3.39	3.39	0.38822	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000002	D	0.96549	0.8874	L	0.28115	0.83	0.80722	D	1	P	0.41366	0.747	P	0.54706	0.759	D	0.95625	0.8684	10	0.37606	T	0.19	-16.4293	13.7577	0.62946	0.0:0.0:1.0:0.0	.	152	Q8NDY6	BHE23_HUMAN	I	152	ENSP00000359371:L152I	ENSP00000359371:L152I	L	-	1	0	BHLHE23	61108070	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.137000	0.64789	1.421000	0.47157	0.491000	0.48974	CTC		0.697	BHLHE23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080095.2	NM_080606		22	140	1	0	9.86323e-18	1	1.09066e-17	22	140					T	61637625	G	T	61637625	3	4	79	1	0	0	0	0	1	0	0	0	1424	1000	35	3	227	3	BHLHE23	20	61637625	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38807	61637625	1387895	20455	30772											
YTHDF1	54915	broad.mit.edu	37	chr20	61834989	61834989	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccaaaaacagcatcGtgcataaaatgatggtctcc	9	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61834989G>A	ENST00000370339.3	-	4	644	c.303C>T	c.(301-303)caC>caT	p.H101H	YTHDF1_ENST00000370333.4_Silent_p.H51H|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	101							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AAACAGCATCGTGCATAAAAT	0.532																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(301-303)caC>caT		YTH domain family, member 1							101	104	103					20																	61834989		2203	4300	6503	SO:0001819	synonymous_variant	54915							g.chr20:61834989G>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.303C>T	20.37:g.61834989G>A						YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.H51H	p.H101H	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	644	-			101					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Silent	SNP	ENST00000370339.3	37	c.303C>T	CCDS13511.1																																																																																				0.532	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		80	364	0	0	0	1	0	80	364					A	61834989	G	A	61834989	2	1	79	1	0	0	0	0	0	0	0	1	17552	1136	40	1		1	YTHDF1	20	61834989	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197364	61834989	1190531	20456	30773											
ARFGAP1	55738	broad.mit.edu	37	chr20	61907992	61907992	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acagcagagccgcggccctcTttagggataaggtagagatg	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61907992T>G	ENST00000370283.4	+	4	471	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.F111V	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	111	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CGCGGCCCTCTTTAGGGATAA	0.562																																						ENST00000370275.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(331-333)Ttt>Gtt		ADP-ribosylation factor GTPase activating protein 1							50	46	48					20																	61907992		2203	4300	6503	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907992T>G	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"ADP-ribosylation factor GTPase activating proteins"	15852	protein-coding gene	gene with protein product		608377	"ADP-ribosylation factor 1 GTPase activating protein"	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.331T>G	20.37:g.61907992T>G	ENSP00000359306:p.Phe111Val					ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F37V|ARFGAP1_ENST00000519273.2_Silent_p.S31S|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F58V|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F111V|ARFGAP1_ENST00000370283.4_Missense_Mutation_p.F111V	p.F111V			Q8N6T3	ARFG1_HUMAN			4	423	+	all_cancers(38;1.59e-09)		111			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.331T>G	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849298	0.71603	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T;T;T;T	0.54071	0.85;0.59;0.68;0.85;0.85;0.7;0.85;0.85;0.85	4.76	4.76	0.60689	.	0.052580	0.85682	D	0.000000	T	0.65995	0.2745	L	0.52573	1.65	0.80722	D	1	P;D;P;P	0.63046	0.955;0.992;0.791;0.793	P;D;P;P	0.68483	0.902;0.958;0.68;0.683	T	0.69745	-0.5062	10	0.87932	D	0	0.8551	14.5528	0.68078	0.0:0.0:0.0:1.0	.	58;111;111;111	E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	V	111;37;37;58;111;37;111;111;111	ENSP00000359306:F111V;ENSP00000449800:F37V;ENSP00000447037:F37V;ENSP00000430500:F58V;ENSP00000359298:F111V;ENSP00000429674:F37V;ENSP00000314615:F111V;ENSP00000430929:F111V;ENSP00000449515:F111V	ENSP00000314615:F111V	F	+	1	0	ARFGAP1	61378437	1.000000	0.71417	0.998000	0.56505	0.562000	0.35680	7.555000	0.82223	1.900000	0.55004	0.460000	0.39030	TTT		0.562	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		35	169	0	0	0	1	0	35	169					G	61907992	T	G	61907992	3	3	79	1	0	0	0	0	1	0	0	0	849	1609	56	4	341	4	ARFGAP1	20	61907992	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	73003	61907992	1117528	20457	30774											
COL20A1	57642	broad.mit.edu	37	chr20	61926468	61926468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagcaccatgagctcCggagaccctgcacacctcgg	11	17	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61926468C>T	ENST00000358894.6	+	2	109	c.9C>T	c.(7-9)tcC>tcT	p.S3S	COL20A1_ENST00000435874.1_Silent_p.S3S|COL20A1_ENST00000326996.6_Silent_p.S3S|COL20A1_ENST00000422202.1_Silent_p.S3S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	3					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)					CCATGAGCTCCGGAGACCCTG	0.647																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(7-9)tcC>tcT		collagen, type XX, alpha 1							13	17	16					20																	61926468		1990	4068	6058	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61926468C>T	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.9C>T	20.37:g.61926468C>T						COL20A1_ENST00000326996.6_Silent_p.S3S|COL20A1_ENST00000358894.6_Silent_p.S3S|COL20A1_ENST00000435874.1_Silent_p.S3S	p.S3S			Q9P218	COKA1_HUMAN			1	77	+	all_cancers(38;1.39e-10)		3					Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.9C>T	CCDS46628.1																																																																																				0.647	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		3	14	0	0	0	1	0	3	14					T	61926468	C	T	61926468	2	4	79	1	0	0	0	0	0	0	0	1	3688	639	23	1		1	COL20A1	20	61926468	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18476	61926468	1099052	20458	30775											
COL20A1	57642	broad.mit.edu	37	chr20	61958146	61958146	+	Nonsense_Mutation	SNP	C	C	T													ccaggggcactagtggagagCgaggacctccagggaccgtg					rs577136410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958146C>T	ENST00000358894.6	+	31	3599	c.3499C>T	c.(3499-3501)Cga>Tga	p.R1167*	COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*|COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*|COL20A1_ENST00000422202.1_Nonsense_Mutation_p.R1174*	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1167	Collagen-like 2.				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)					TAGTGGAGAGCGAGGACCTCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18508	0.0		0.001	False		,,,				2504	0.0					ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3520-3522)Cga>Tga		collagen, type XX, alpha 1							29	33	31					20																	61958146		1986	4149	6135	SO:0001587	stop_gained	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61958146C>T	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.3499C>T	20.37:g.61958146C>T	ENSP00000351767:p.Arg1167*					COL20A1_ENST00000326996.6_Nonsense_Mutation_p.R1199*|COL20A1_ENST00000358894.6_Nonsense_Mutation_p.R1167*|COL20A1_ENST00000435874.1_Nonsense_Mutation_p.R1174*	p.R1174*			Q9P218	COKA1_HUMAN			30	3588	+	all_cancers(38;1.39e-10)		1167			Collagen-like 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Nonsense_Mutation	SNP	ENST00000358894.6	37	c.3520C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	38	6.702925	0.97776	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	.	.	.	3.92	0.239	0.15484	.	0.240310	0.34046	U	0.004304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.5301	0.16980	0.6065:0.281:0.0:0.1126	.	.	.	.	X	1167;1199;1174;1174;302;157	.	ENSP00000323077:R1199X	R	+	1	2	COL20A1	61428590	0.056000	0.20664	0.946000	0.38457	0.007000	0.05969	0.001000	0.13038	0.168000	0.19655	-0.666000	0.03841	CGA		0.617	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		9	41	0	0	0	1	0	9	41					T	61958146	C	T	61958146	4	4	79	1	0	0	0	0	0	1	0	0	3688	760	27	1	3559	1	COL20A1	20	61958146	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31678	61958146	1067374	20459	30776	199	2									
COL20A1	57642	broad.mit.edu	37	chr20	61958155	61958155	+	Missense_Mutation	SNP	C	C	A													ctagtggagagcgaggacctCcagggaccgtggggcccaca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958155C>A	ENST00000358894.6	+	31	3608	c.3508C>A	c.(3508-3510)Cca>Aca	p.P1170T	COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T|COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T|COL20A1_ENST00000422202.1_Missense_Mutation_p.P1177T	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1170	Collagen-like 2.				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)					GCGAGGACCTCCAGGGACCGT	0.622																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(3529-3531)Cca>Aca		collagen, type XX, alpha 1							30	34	32					20																	61958155		1985	4151	6136	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61958155C>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3508C>A	20.37:g.61958155C>A	ENSP00000351767:p.Pro1170Thr					COL20A1_ENST00000326996.6_Missense_Mutation_p.P1202T|COL20A1_ENST00000358894.6_Missense_Mutation_p.P1170T|COL20A1_ENST00000435874.1_Missense_Mutation_p.P1177T	p.P1177T			Q9P218	COKA1_HUMAN			30	3597	+	all_cancers(38;1.39e-10)		1170			Collagen-like 2.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.3529C>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240504	0.22711	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	D;D;D;D;D;D	0.90900	-2.63;-2.63;-2.63;-2.63;-2.75;-2.75	3.92	1.93	0.25924	.	0.239997	0.32416	U	0.006123	D	0.91831	0.7415	M	0.62016	1.91	0.34361	D	0.691012	D;D	0.76494	0.999;0.999	D;D	0.72982	0.964;0.979	D	0.89616	0.3845	10	0.40728	T	0.16	.	4.0991	0.10005	0.0:0.5812:0.1972:0.2216	.	1177;1170	Q9P218-2;Q9P218	.;COKA1_HUMAN	T	1170;1202;1177;1177;305;160	ENSP00000351767:P1170T;ENSP00000323077:P1202T;ENSP00000408690:P1177T;ENSP00000414753:P1177T;ENSP00000410799:P305T;ENSP00000406345:P160T	ENSP00000323077:P1202T	P	+	1	0	COL20A1	61428599	0.037000	0.19845	0.339000	0.25562	0.023000	0.10783	1.718000	0.38001	0.165000	0.19558	0.313000	0.20887	CCA		0.622	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		9	44	1	0	3.86212e-05	1	3.93988e-05	9	44					A	61958155	C	A	61958155	3	1	79	1	0	0	0	0	1	0	0	0	3688	855	30	3	3568	3	COL20A1	20	61958155	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9	61958155	1067365	20460	30777	199	2									
CHRNA4	1137	broad.mit.edu	37	chr20	61981304	61981304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacacagtactggatgctccGagaccggcaccggacgccgc	12	15	0	1	rs200200279	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981304G>A	ENST00000370263.4	-	5	1680	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	487					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)	TGGATGCTCCGAGACCGGCAC	0.701													G|||	2	0.000399361	0.0	0.0	5008	,	,		12290	0.001		0.0	False		,,,				2504	0.001					ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1459-1461)Cgg>Tgg		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						8	10	9					20																	61981304		2165	4272	6437	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981304G>A		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.1459C>T	20.37:g.61981304G>A	ENSP00000359285:p.Arg487Trp					CHRNA4_ENST00000463705.1_5'UTR	p.R487W	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1680	-	all_cancers(38;1.71e-10)		487					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1459C>T	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.284091	0.40394	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.79454	-1.27	4.86	3.83	0.44106	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.196040	0.01472	N	0.016309	T	0.74114	0.3674	L	0.42744	1.35	0.27187	N	0.960529	B;B	0.30973	0.141;0.302	B;B	0.25759	0.042;0.063	T	0.62407	-0.6861	10	0.59425	D	0.04	.	11.7432	0.51804	0.0:0.0:0.7233:0.2767	.	416;487	Q4VAQ5;P43681	.;ACHA4_HUMAN	W	393;487;416	ENSP00000359285:R487W	ENSP00000359280:R393W	R	-	1	2	CHRNA4	61451748	0.004000	0.15560	0.718000	0.30602	0.829000	0.46940	1.025000	0.30090	2.246000	0.74042	0.591000	0.81541	CGG		0.701	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			13	48	0	0	0	1	0	13	48					A	61981304	G	A	61981304	3	1	79	1	0	0	0	0	1	0	0	0	3394	1057	37	1	432	1	CHRNA4	20	61981304	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23149	61981304	1044216	20461	30778											
CHRNA4	1137	broad.mit.edu	37	chr20	61981707	61981707	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaggagcaggcgtggCacgatgtccaggaagaccct	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981707C>T	ENST00000370263.4	-	5	1277	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	352					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)	GCAGGCGTGGCACGATGTCCA	0.632																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1054-1056)gtG>gtA		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						110	78	89					20																	61981707		2203	4300	6503	SO:0001819	synonymous_variant	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981707C>T		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.1056G>A	20.37:g.61981707C>T						CHRNA4_ENST00000463705.1_5'UTR	p.V352V	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1277	-	all_cancers(38;1.71e-10)		352					Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	ENST00000370263.4	37	c.1056G>A	CCDS13517.1																																																																																				0.632	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			64	249	0	0	0	1	0	64	249					T	61981707	C	T	61981707	2	4	79	1	0	0	0	0	0	0	0	1	3394	697	25	2		2	CHRNA4	20	61981707	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	403	61981707	1043813	20462	30779											
CHRNA4	1137	broad.mit.edu	37	chr20	61981955	61981955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgtgatcttctcgccacactCggagggcaggtagaagacca	12	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981955C>T	ENST00000370263.4	-	5	1029	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	270					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)	TCGCCACACTCGGAGGGCAGG	0.597																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(808-810)Gag>Aag		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						244	183	204					20																	61981955		2203	4300	6503	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61981955C>T		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.808G>A	20.37:g.61981955C>T	ENSP00000359285:p.Glu270Lys					CHRNA4_ENST00000463705.1_5'UTR	p.E270K	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			5	1029	-	all_cancers(38;1.71e-10)		270					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.808G>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290988	0.80914	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.72615	-0.67	5.06	4.08	0.47627	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.379961	0.31542	N	0.007480	T	0.70456	0.3226	L	0.55834	1.745	0.53688	D	0.999979	D;P	0.53462	0.96;0.807	P;B	0.46110	0.504;0.208	T	0.74864	-0.3519	10	0.87932	D	0	.	15.1965	0.73096	0.0:0.8582:0.1418:0.0	.	199;270	Q4VAQ5;P43681	.;ACHA4_HUMAN	K	176;270;199	ENSP00000359285:E270K	ENSP00000359280:E176K	E	-	1	0	CHRNA4	61452399	0.999000	0.42202	0.111000	0.21465	0.881000	0.50899	3.987000	0.56944	1.050000	0.40346	0.655000	0.94253	GAG		0.597	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			58	284	0	0	0	1	0	58	284					T	61981955	C	T	61981955	3	4	79	1	0	0	0	0	1	0	0	0	3394	893	31	1	1083	1	CHRNA4	20	61981955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248	61981955	1043565	20463	30780											
KCNQ2	3785	broad.mit.edu	37	chr20	62046315	62046315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcctggcgtgcccggctgCggtccccgaagctccagctc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62046315C>T	ENST00000359125.2	-	13	1640	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	KCNQ2_ENST00000344462.4_Missense_Mutation_p.R459H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	489					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)	TGCCCGGCTGCGGTCCCCGAA	0.692																																						ENST00000354587.3																			0				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						c.(1381-1383)cGc>cAc		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						57	66	63					20																	62046315		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62046315C>T	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.1466G>A	20.37:g.62046315C>T	ENSP00000352035:p.Arg489His					KCNQ2_ENST00000359125.2_Missense_Mutation_p.R489H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000430658.1_Missense_Mutation_p.R459H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R489H|KCNQ2_ENST00000370226.1_Missense_Mutation_p.R459H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R461H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.R471H|KCNQ2_ENST00000370222.3_Missense_Mutation_p.R461H|KCNQ2_ENST00000344462.3_Missense_Mutation_p.R449H	p.R461H			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		11	1558	-	all_cancers(38;1.24e-11)		489					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1382G>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888755	0.72524	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	5.26	5.26	0.73747	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.140241	0.47852	D	0.000206	D	0.98988	0.9655	L	0.47190	1.495	0.50313	D	0.999868	B;B;B;B	0.33379	0.41;0.41;0.41;0.273	B;B;B;B	0.26202	0.018;0.027;0.04;0.067	D	0.99875	1.1103	10	0.87932	D	0	-15.9725	18.8445	0.92200	0.0:1.0:0.0:0.0	.	461;471;459;489	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	471;489;459;461;489;459;461;449;461;461	ENSP00000349789:R471H;ENSP00000352035:R489H;ENSP00000359246:R459H;ENSP00000346601:R461H;ENSP00000352718:R489H;ENSP00000399612:R459H;ENSP00000353668:R461H;ENSP00000339611:R449H;ENSP00000359244:R461H;ENSP00000359242:R461H	ENSP00000339611:R449H	R	-	2	0	KCNQ2	61516759	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.714000	0.54889	2.462000	0.83206	0.478000	0.44815	CGC		0.692	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		118	501	0	0	0	1	0	118	501					T	62046315	C	T	62046315	3	4	79	1	0	0	0	0	1	0	0	0	8113	768	27	1	1172	1	KCNQ2	20	62046315	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64360	62046315	979205	20464	30781											
KCNQ2	3785	broad.mit.edu	37	chr20	62065214	62065214	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtactgccacgtggagtgcaGgtctgtgcgcgagaggttgg	18	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62065214G>T	ENST00000359125.2	-	8	1240	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	KCNQ2_ENST00000344462.4_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000354587.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	356					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)	GTGGAGTGCAGGTCTGTGCGC	0.627																																						ENST00000354587.3																			0				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						c.(1066-1068)Ctg>Atg		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						129	106	114					20																	62065214		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62065214G>T	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.1066C>A	20.37:g.62065214G>T	ENSP00000352035:p.Leu356Met					KCNQ2_ENST00000359125.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000360480.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000430658.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000359689.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000370226.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000370224.1_Missense_Mutation_p.L356M|KCNQ2_ENST00000357249.2_Missense_Mutation_p.L356M|KCNQ2_ENST00000370222.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344462.3_Missense_Mutation_p.L356M|KCNQ2_ENST00000344425.5_Missense_Mutation_p.L356M|KCNQ2_ENST00000370221.1_Missense_Mutation_p.L356M	p.L356M			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		8	1242	-	all_cancers(38;1.24e-11)		356					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1066C>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720439	0.89205	.	.	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	0.99298	-5.47;-5.61;-5.61;-5.45;-5.63;-5.47;-5.51;-5.57;-5.45;-5.53;-5.71;-5.24	4.93	2.97	0.34412	.	0.000000	0.53938	D	0.000054	D	0.98607	0.9534	L	0.42245	1.32	0.51482	D	0.999927	D;B;D;D;D;D	0.62365	0.987;0.451;0.991;0.984;0.958;0.973	P;B;P;P;P;P	0.61800	0.601;0.126;0.894;0.894;0.793;0.786	D	0.98376	1.0556	10	0.72032	D	0.01	-32.1885	10.1405	0.42732	0.1606:0.0:0.8394:0.0	.	356;356;356;356;356;356	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	M	356	ENSP00000349789:L356M;ENSP00000352035:L356M;ENSP00000359246:L356M;ENSP00000346601:L356M;ENSP00000352718:L356M;ENSP00000399612:L356M;ENSP00000353668:L356M;ENSP00000339611:L356M;ENSP00000359244:L356M;ENSP00000359242:L356M;ENSP00000359241:L356M;ENSP00000345523:L356M	ENSP00000345523:L356M	L	-	1	2	KCNQ2	61535658	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	4.238000	0.58688	1.089000	0.41292	0.655000	0.94253	CTG		0.627	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		102	430	1	0	1.09269e-41	1	1.32845e-41	102	430					T	62065214	G	T	62065214	3	4	79	1	0	0	0	0	1	0	0	0	8113	991	35	3	1656	3	KCNQ2	20	62065214	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18899	62065214	960306	20465	30782											
KCNQ2	3785	broad.mit.edu	37	chr20	62070950	62070950	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggggcagctggacttaCtgcaggcagcgcgaagaagg	18	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	ENST00000359125.2	-	6	1102		c.e6+1		KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000354587.3_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2						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)	GCTGGACTTACTGCAGGCAGC	0.642																																						ENST00000354587.3																			0				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						c.e6+1		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						130	101	111					20																	62070950		2203	4300	6503	SO:0001630	splice_region_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62070950C>T	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.927+1G>A	20.37:g.62070950C>T						KCNQ2_ENST00000359125.2_Splice_Site|KCNQ2_ENST00000360480.3_Splice_Site|KCNQ2_ENST00000430658.1_Splice_Site|KCNQ2_ENST00000359689.1_Splice_Site|KCNQ2_ENST00000370226.1_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000370222.3_Splice_Site|KCNQ2_ENST00000344462.3_Splice_Site|KCNQ2_ENST00000344425.5_Splice_Site|KCNQ2_ENST00000370221.1_Splice_Site				O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1104	-	all_cancers(38;1.24e-11)							O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Splice_Site	SNP	ENST00000359125.2	37		CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980181	0.34942	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4798	0.84155	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNQ2	61541394	1.000000	0.71417	0.783000	0.31826	0.019000	0.09904	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	.		0.642	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	Intron	55	326	0	0	0	1	0	55	326					T	62070950	C	T	62070950	5	4	79	1	0	0	0	0	0	0	1	0	8113	579	20	2	1802	2	KCNQ2	20	62070950	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5736	62070950	954570	20466	30783											
KCNQ2	3785	broad.mit.edu	37	chr20	62070995	62070995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgatgagggtgaaggttgCcgcaaggagcctgccgttcc	15	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070995C>T	ENST00000359125.2	-	6	1057	c.883G>A	c.(883-885)Gca>Aca	p.A295T	KCNQ2_ENST00000344462.4_Missense_Mutation_p.A295T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A295T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000354587.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A295T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	295					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)	GTGAAGGTTGCCGCAAGGAGC	0.632																																						ENST00000354587.3																			0				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						c.(883-885)Gca>Aca		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						214	158	177					20																	62070995		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62070995C>T	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.883G>A	20.37:g.62070995C>T	ENSP00000352035:p.Ala295Thr					KCNQ2_ENST00000359125.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000360480.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000430658.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000370226.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.A295T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.A295T|KCNQ2_ENST00000370222.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000344462.3_Missense_Mutation_p.A295T|KCNQ2_ENST00000344425.5_Missense_Mutation_p.A295T|KCNQ2_ENST00000370221.1_Missense_Mutation_p.A295T	p.A295T			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		6	1059	-	all_cancers(38;1.24e-11)		295					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.883G>A	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684165	0.68157	.	.	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	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	4.01	4.01	0.46588	Ion transport (1);	0.141721	0.46145	D	0.000303	D	0.98286	0.9432	L	0.45744	1.44	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.947;0.999;0.997;0.997;0.998	D;P;D;D;D;D	0.79108	0.992;0.837;0.928;0.928;0.946;0.957	D	0.99853	1.1074	10	0.87932	D	0	-20.9394	16.4798	0.84155	0.0:1.0:0.0:0.0	.	295;295;295;295;295;295	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	T	295	ENSP00000349789:A295T;ENSP00000352035:A295T;ENSP00000359246:A295T;ENSP00000346601:A295T;ENSP00000352718:A295T;ENSP00000399612:A295T;ENSP00000353668:A295T;ENSP00000339611:A295T;ENSP00000359244:A295T;ENSP00000359242:A295T;ENSP00000359241:A295T;ENSP00000345523:A295T	ENSP00000345523:A295T	A	-	1	0	KCNQ2	61541439	1.000000	0.71417	0.090000	0.20809	0.101000	0.19017	7.574000	0.82434	1.908000	0.55244	0.561000	0.74099	GCA		0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		89	424	0	0	0	1	0	89	424					T	62070995	C	T	62070995	3	4	79	1	0	0	0	0	1	0	0	0	8113	739	26	2	1847	2	KCNQ2	20	62070995	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45	62070995	954525	20467	30784											
PTK6	5753	broad.mit.edu	37	chr20	62164956	62164956	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cggtctttccagagcccctcGaagacctccccaaagtagcc	8	17	1	2	rs61736391	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62164956G>A	ENST00000217185.2	-	4	645	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PTK6_ENST00000542869.1_Silent_p.F105F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	AGAGCCCCTCGAAGACCTCCC	0.647																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(616-618)ttC>ttT		protein tyrosine kinase 6							82	87	85					20																	62164956		2203	4300	6503	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62164956G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.618C>T	20.37:g.62164956G>A						PTK6_ENST00000542869.1_Silent_p.F105F	p.F206F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		4	645	-	all_cancers(38;2.51e-11)		206			Protein kinase.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.618C>T	CCDS13524.1																																																																																				0.647	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			93	529	0	0	0	1	0	93	529					A	62164956	G	A	62164956	2	1	79	1	0	0	0	0	0	0	0	1	12812	1049	37	1		1	PTK6	20	62164956	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	93961	62164956	860564	20468	30785											
PTK6	5753	broad.mit.edu	37	chr20	62166298	62166298	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccggggccgcacccgacagGacgtagtcggcactcggctt	15	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62166298G>A	ENST00000217185.2	-	2	372	c.345C>T	c.(343-345)gtC>gtT	p.V115V	PTK6_ENST00000542869.1_Intron	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	115	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CACCCGACAGGACGTAGTCGG	0.706																																						ENST00000217185.2																			0				endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(343-345)gtC>gtT		protein tyrosine kinase 6							12	15	14					20																	62166298		2179	4279	6458	SO:0001819	synonymous_variant	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62166298G>A	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"SH2 domain containing"	9617	protein-coding gene	gene with protein product		602004	"PTK6 protein tyrosine kinase 6"			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.345C>T	20.37:g.62166298G>A						PTK6_ENST00000542869.1_Intron	p.V115V	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		2	372	-	all_cancers(38;2.51e-11)		115			SH2.		B2RCR3|B4DW46|Q58F01	Silent	SNP	ENST00000217185.2	37	c.345C>T	CCDS13524.1																																																																																				0.706	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			25	69	0	0	0	1	0	25	69					A	62166298	G	A	62166298	2	1	79	1	0	0	0	0	0	0	0	1	12812	1161	41	2		2	PTK6	20	62166298	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1342	62166298	859222	20469	30786											
SRMS	6725	broad.mit.edu	37	chr20	62172627	62172627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacttctgggagaagacaCgataattggccgcctcaggc	12	11	2	3	rs139360881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62172627C>T	ENST00000217188.1	-	7	1242	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	401	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)			GGAGAAGACACGATAATTGGC	0.617																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1201-1203)cGt>cAt		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites		C	HIS/ARG	0,4406		0,0,2203	108	115	113		1202	1.8	0	20	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	SRMS	NM_080823.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	401/489	62172627	1,13005	2203	4300	6503	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172627C>T		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.1202G>A	20.37:g.62172627C>T	ENSP00000217188:p.Arg401His						p.R401H	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1242	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		401			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1202G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546856	0.13312	0.0	1.16E-4	ENSG00000125508	ENST00000217188	D	0.83075	-1.68	4.83	1.78	0.24846	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.386473	0.21692	N	0.070556	T	0.74816	0.3766	L	0.42245	1.32	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.65401	-0.6177	10	0.66056	D	0.02	.	9.3378	0.38060	0.0:0.6934:0.0:0.3066	.	401	Q9H3Y6	SRMS_HUMAN	H	401	ENSP00000217188:R401H	ENSP00000217188:R401H	R	-	2	0	SRMS	61643071	0.034000	0.19679	0.000000	0.03702	0.007000	0.05969	0.815000	0.27253	0.193000	0.20303	-0.263000	0.10527	CGT		0.617	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		161	764	0	0	0	1	0	161	764					T	62172627	C	T	62172627	3	4	79	1	0	0	0	0	1	0	0	0	15204	536	19	1	272	1	SRMS	20	62172627	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6329	62172627	852893	20470	30787											
SRMS	6725	broad.mit.edu	37	chr20	62178461	62178461	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggccgaggtactcacGgttggtctgagagcgtctca	14	11	3	1	rs143524113	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178461G>A	ENST00000217188.1	-	1	396	c.356C>T	c.(355-357)cCc>cTc	p.P119L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	119					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)			AGGTACTCACGGTTGGTCTGA	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15870	0.0		0.0	False		,,,				2504	0.0					ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.e1+1		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites		G	LEU/PRO	8,4398	12.9+/-30.5	0,8,2195	49	54	52		356	2.3	0.8	20	dbSNP_134	52	0,8598		0,0,4299	yes	missense-near-splice	SRMS	NM_080823.2	98	0,8,6494	AA,AG,GG		0.0,0.1816,0.0615	probably-damaging	119/489	62178461	8,12996	2203	4299	6502	SO:0001630	splice_region_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178461G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.356+1C>T	20.37:g.62178461G>A							p.P119_splice	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	396	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		119						Splice_Site	SNP	ENST00000217188.1	37	c.356_splice	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942287	0.53079	0.001816	0.0	ENSG00000125508	ENST00000217188	T	0.29142	1.58	4.34	2.3	0.28687	Src homology-3 domain (1);SH2 motif (2);	0.251627	0.28082	N	0.016680	T	0.26268	0.0641	M	0.66939	2.045	0.80722	D	1	P	0.37914	0.611	B	0.32022	0.139	T	0.02983	-1.1086	9	.	.	.	.	8.5409	0.33393	0.0839:0.0:0.7645:0.1517	.	119	Q9H3Y6	SRMS_HUMAN	L	119	ENSP00000217188:P119L	.	P	-	2	0	SRMS	61648905	1.000000	0.71417	0.800000	0.32199	0.928000	0.56348	1.731000	0.38135	0.249000	0.21456	0.491000	0.48974	CCC		0.632	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823	Missense_Mutation	10	331	0	0	0	1	0	10	331					A	62178461	G	A	62178461	5	1	79	1	0	0	0	0	0	0	1	0	15204	1130	39	1	1142	1	SRMS	20	62178461	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5834	62178461	847059	20471	30788											
SRMS	6725	broad.mit.edu	37	chr20	62178549	62178549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccgaaagcctgcgtgCgaagatgtagccgcccccct	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178549C>T	ENST00000217188.1	-	1	308	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	90	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			AGCCTGCGTGCGAAGATGTAG	0.677																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(268-270)Gca>Aca		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							94	99	97					20																	62178549		2202	4298	6500	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178549C>T		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.268G>A	20.37:g.62178549C>T	ENSP00000217188:p.Ala90Thr						p.A90T	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	308	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		90			SH3.			Missense_Mutation	SNP	ENST00000217188.1	37	c.268G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090229	0.36855	.	.	ENSG00000125508	ENST00000217188	T	0.51817	0.69	4.24	4.24	0.50183	Src homology-3 domain (3);	0.000000	0.53938	D	0.000053	T	0.51787	0.1695	M	0.89658	3.05	0.42584	D	0.993225	P	0.34699	0.464	B	0.31751	0.135	T	0.57745	-0.7758	10	0.36615	T	0.2	.	10.051	0.42216	0.0:0.9043:0.0:0.0957	.	90	Q9H3Y6	SRMS_HUMAN	T	90	ENSP00000217188:A90T	ENSP00000217188:A90T	A	-	1	0	SRMS	61648993	0.984000	0.35163	0.101000	0.21167	0.005000	0.04900	2.625000	0.46452	1.899000	0.54978	0.491000	0.48974	GCA		0.677	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		52	189	0	0	0	1	0	52	189					T	62178549	C	T	62178549	3	4	79	1	0	0	0	0	1	0	0	0	15204	768	27	1	1230	1	SRMS	20	62178549	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88	62178549	846971	20472	30789											
SRMS	6725	broad.mit.edu	37	chr20	62178609	62178609	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgcggcggacactcaGctccccgccacaccgcgccg	11	22	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178609G>T	ENST00000217188.1	-	1	248	c.208C>A	c.(208-210)Ctg>Atg	p.L70M		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	70	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			CGGACACTCAGCTCCCCGCCA	0.697																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(208-210)Ctg>Atg		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							113	116	115					20																	62178609		2191	4271	6462	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178609G>T		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.208C>A	20.37:g.62178609G>T	ENSP00000217188:p.Leu70Met						p.L70M	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	248	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		70			SH3.			Missense_Mutation	SNP	ENST00000217188.1	37	c.208C>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634775	0.47049	.	.	ENSG00000125508	ENST00000217188	T	0.70045	-0.45	4.09	2.04	0.26737	Src homology-3 domain (3);	0.000000	0.42053	D	0.000765	D	0.82287	0.5004	M	0.89840	3.065	0.36135	D	0.846384	D	0.89917	1.0	D	0.97110	1.0	D	0.86246	0.1646	10	0.87932	D	0	.	10.1426	0.42744	0.1726:0.0:0.8274:0.0	.	70	Q9H3Y6	SRMS_HUMAN	M	70	ENSP00000217188:L70M	ENSP00000217188:L70M	L	-	1	2	SRMS	61649053	1.000000	0.71417	0.918000	0.36340	0.103000	0.19146	4.716000	0.61916	0.678000	0.31325	0.491000	0.48974	CTG		0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		21	78	1	0	1.64293e-13	1	1.77503e-13	21	78					T	62178609	G	T	62178609	3	4	79	1	0	0	0	0	1	0	0	0	15204	962	34	3	1290	3	SRMS	20	62178609	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60	62178609	846911	20473	30790											
C20orf195	79025	broad.mit.edu	37	chr20	62187575	62187575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctacacgtcaagcacCgcctggtgtctgatgtcagt	13	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187575C>T	ENST00000370098.3	+	2	651	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	187						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTCAAGCACCGCCTGGTGTC	0.647																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(559-561)Cgc>Tgc		chromosome 20 open reading frame 195							72	72	72					20																	62187575		2203	4300	6503	SO:0001583	missense	79025							g.chr20:62187575C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.559C>T	20.37:g.62187575C>T	ENSP00000359116:p.Arg187Cys					C20orf195_ENST00000370097.1_Missense_Mutation_p.R187C	p.R187C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	651	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		187						Missense_Mutation	SNP	ENST00000370098.3	37	c.559C>T	CCDS13526.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539105	0.45176	.	.	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000046	T	0.65678	0.2714	L	0.29908	0.895	0.46586	D	0.999115	D	0.89917	1.0	D	0.71414	0.973	T	0.68842	-0.5302	9	0.87932	D	0	-28.6082	15.6531	0.77112	0.1377:0.8623:0.0:0.0	.	187	Q9BVV2	CT195_HUMAN	C	187	.	ENSP00000359115:R187C	R	+	1	0	C20orf195	61658019	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	2.253000	0.43205	2.573000	0.86826	0.655000	0.94253	CGC		0.647	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		139	576	0	0	0	1	0	139	576					T	62187575	C	T	62187575	3	4	79	1	0	0	0	0	1	0	0	0	2107	652	23	1	561	1	C20orf195	20	62187575	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8966	62187575	837945	20474	30791											
C20orf195	79025	broad.mit.edu	37	chr20	62187886	62187886	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagggccgagacctccacGctggtgtacgagccctggag	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187886G>A	ENST00000370098.3	+	2	962	c.870G>A	c.(868-870)acG>acA	p.T290T	C20orf195_ENST00000370097.1_Silent_p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	290	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGACCTCCACGCTGGTGTACG	0.622																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(868-870)acG>acA		chromosome 20 open reading frame 195							86	94	91					20																	62187886		2203	4300	6503	SO:0001819	synonymous_variant	79025							g.chr20:62187886G>A		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.870G>A	20.37:g.62187886G>A						C20orf195_ENST00000370097.1_Silent_p.T290T	p.T290T	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	962	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		290						Silent	SNP	ENST00000370098.3	37	c.870G>A	CCDS13526.1																																																																																				0.622	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		100	852	0	0	0	1	0	100	852					A	62187886	G	A	62187886	2	1	79	1	0	0	0	0	0	0	0	1	2107	1074	38	1		1	C20orf195	20	62187886	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	311	62187886	837634	20475	30792											
PRIC285	85441	broad.mit.edu	37	chr20	62193938	62193938	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcctcagcacctcttcCggaaccttctccatgcccat	6	20	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62193938C>T	ENST00000467148.1	-	8	6306	c.6237G>A	c.(6235-6237)ccG>ccA	p.P2079P	HELZ2_ENST00000427522.2_Silent_p.P1510P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2079					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)										GCACCTCTTCCGGAACCTTCT	0.662																																						ENST00000467148.1																			0											c.(6235-6237)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator																																				SO:0001819	synonymous_variant	85441							g.chr20:62193938C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6237G>A	20.37:g.62193938C>T						HELZ2_ENST00000427522.2_Silent_p.P1510P	p.P2079P	NM_001037335.2	NP_001032412.2					8	6306	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6237G>A	CCDS33508.1																																																																																				0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		9	51	0	0	0	1	0	9	51					T	62193938	C	T	62193938	2	4	79	1	0	0	0	0	0	0	0	1	12532	639	23	1		1	PRIC285	20	62193938	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6052	62193938	831582	20476	30793											
PRIC285	85441	broad.mit.edu	37	chr20	62194310	62194310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcattctcggcaaccgcgccGgtggccgactccagggcgca	13	16	2	0	rs201232331		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62194310G>A	ENST00000467148.1	-	8	5934	c.5865C>T	c.(5863-5865)acC>acT	p.T1955T	HELZ2_ENST00000427522.2_Silent_p.T1386T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1955					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)										CAACCGCGCCGGTGGCCGACT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		16832	0.001		0.0	False		,,,				2504	0.0					ENST00000467148.1																			0											c.(5863-5865)acC>acT		helicase with zinc finger 2, transcriptional coactivator							13	11	11					20																	62194310		2148	4262	6410	SO:0001819	synonymous_variant	85441							g.chr20:62194310G>A	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.5865C>T	20.37:g.62194310G>A						HELZ2_ENST00000427522.2_Silent_p.T1386T	p.T1955T	NM_001037335.2	NP_001032412.2					8	5934	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.5865C>T	CCDS33508.1																																																																																				0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		14	44	0	0	0	1	0	14	44					A	62194310	G	A	62194310	2	1	79	1	0	0	0	0	0	0	0	1	12532	1103	39	1		1	PRIC285	20	62194310	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	372	62194310	831210	20477	30794											
PRIC285	85441	broad.mit.edu	37	chr20	62194454	62194454	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcagaggctgaagccCggtgccaccgtccagagctg	14	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62194454C>T	ENST00000467148.1	-	8	5790	c.5721G>A	c.(5719-5721)ccG>ccA	p.P1907P	HELZ2_ENST00000427522.2_Silent_p.P1338P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1907					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)										GGCTGAAGCCCGGTGCCACCG	0.701																																						ENST00000467148.1																			0											c.(5719-5721)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator							7	9	8					20																	62194454		2146	4240	6386	SO:0001819	synonymous_variant	85441							g.chr20:62194454C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5721G>A	20.37:g.62194454C>T						HELZ2_ENST00000427522.2_Silent_p.P1338P	p.P1907P	NM_001037335.2	NP_001032412.2					8	5790	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.5721G>A	CCDS33508.1																																																																																				0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		11	48	0	0	0	1	0	11	48					T	62194454	C	T	62194454	2	4	79	1	0	0	0	0	0	0	0	1	12532	639	23	1		1	PRIC285	20	62194454	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	144	62194454	831066	20478	30795											
PRIC285	85441	broad.mit.edu	37	chr20	62195237	62195237	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgggcgcagcggccgaaCgccgagcgctccagggcctt	15	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62195237C>T	ENST00000467148.1	-	8	5007	c.4938G>A	c.(4936-4938)gcG>gcA	p.A1646A	HELZ2_ENST00000427522.2_Silent_p.A1077A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1646					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)										AGCGGCCGAACGCCGAGCGCT	0.687																																						ENST00000467148.1																			0											c.(4936-4938)gcG>gcA		helicase with zinc finger 2, transcriptional coactivator							17	15	16					20																	62195237		2163	4281	6444	SO:0001819	synonymous_variant	85441							g.chr20:62195237C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4938G>A	20.37:g.62195237C>T						HELZ2_ENST00000427522.2_Silent_p.A1077A	p.A1646A	NM_001037335.2	NP_001032412.2					8	5007	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.4938G>A	CCDS33508.1																																																																																				0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		17	79	0	0	0	1	0	17	79					T	62195237	C	T	62195237	2	4	79	1	0	0	0	0	0	0	0	1	12532	523	19	1		1	PRIC285	20	62195237	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	783	62195237	830283	20479	30796											
PRIC285	85441	broad.mit.edu	37	chr20	62200677	62200677	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcggccgtccgctccacGccaggcaccacgtggcggtt	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62200677G>A	ENST00000467148.1	-	4	981	c.912C>T	c.(910-912)ggC>ggT	p.G304G	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_5'Flank	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	304					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)										TCCGCTCCACGCCAGGCACCA	0.706																																						ENST00000467148.1																			0											c.(910-912)ggC>ggT		helicase with zinc finger 2, transcriptional coactivator							19	20	20					20																	62200677		2185	4292	6477	SO:0001819	synonymous_variant	85441							g.chr20:62200677G>A	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.912C>T	20.37:g.62200677G>A							p.G304G	NM_001037335.2	NP_001032412.2					4	981	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.912C>T	CCDS33508.1																																																																																				0.706	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		23	83	0	0	0	1	0	23	83					A	62200677	G	A	62200677	2	1	79	1	0	0	0	0	0	0	0	1	12532	1074	38	1		1	PRIC285	20	62200677	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5440	62200677	824843	20480	30797											
RTEL1	51750	broad.mit.edu	37	chr20	62321794	62321794	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaagcagaggtcctcaGgtgcggacgggcagcgctgg	18	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	ENST00000360203.5	+	26	2738	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805R|RTEL1_ENST00000508582.2_Splice_Site_p.G829R|RTEL1_ENST00000318100.4_Splice_Site_p.G805R|RTEL1_ENST00000370018.3_Splice_Site_p.G805R|RTEL1_ENST00000370003.1_Splice_Site_p.G50R					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)			GAGGTCCTCAGGTGCGGACGG	0.701																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.e26+1		regulator of telomere elongation helicase 1							31	31	31					20																	62321794		2192	4279	6471	SO:0001630	splice_region_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62321794G>A	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.2413+1G>A	20.37:g.62321794G>A						RTEL1-TNFRSF6B_ENST00000482936.1_Splice_Site_p.G805_splice|RTEL1_ENST00000370003.1_Splice_Site_p.G50_splice|RTEL1_ENST00000370018.3_Splice_Site_p.G805_splice|RTEL1_ENST00000360203.5_Splice_Site_p.G805_splice|RTEL1_ENST00000508582.2_Splice_Site_p.G829_splice	p.G805_splice			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		26	3240	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		805						Splice_Site	SNP	ENST00000360203.5	37	c.2413_splice		.	.	.	.	.	.	.	.	.	.	G	21.0	4.078151	0.76528	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.16	4.16	0.48862	.	0.712591	0.13416	N	0.389486	T	0.28797	0.0714	M	0.64997	1.995	0.37882	D	0.930427	D;D;P;D	0.89917	0.991;1.0;0.935;0.99	P;D;P;P	0.97110	0.845;1.0;0.67;0.828	T	0.03807	-1.1002	10	0.23302	T	0.38	-20.4953	13.999	0.64421	0.0:0.0:1.0:0.0	.	829;50;805;805	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	805;805;829;805;198;50	ENSP00000359035:G805R;ENSP00000322287:G805R;ENSP00000424307:G829R;ENSP00000353332:G805R;ENSP00000388063:G198R;ENSP00000359020:G50R	ENSP00000353332:G805R	G	+	1	0	AL353715.1	61792238	0.999000	0.42202	0.490000	0.27465	0.399000	0.30720	4.479000	0.60236	2.144000	0.66660	0.563000	0.77884	GGG		0.701	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957	Missense_Mutation	38	172	0	0	0	1	0	38	172					A	62321794	G	A	62321794	5	1	79	1	0	0	0	0	0	0	1	0	13770	1014	35	2	2511	2	RTEL1	20	62321794	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121117	62321794	703726	20481	30798											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62372827	62372827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccggttgcagccttcaGcccaggtaagactcagatgt	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62372827G>A	ENST00000266077.2	+	3	438	c.386G>A	c.(385-387)aGc>aAc	p.S129N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	129					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)					GCAGCCTTCAGCCCAGGTAAG	0.627																																						ENST00000266077.2																			0				NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7						c.(385-387)aGc>aAc		SLC2A4 regulator							37	38	38					20																	62372827		2200	4300	6500	SO:0001583	missense	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62372827G>A	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.386G>A	20.37:g.62372827G>A	ENSP00000266077:p.Ser129Asn					SLC2A4RG_ENST00000493772.1_3'UTR	p.S129N	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN			3	438	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		129					Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	37	c.386G>A	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	G	8.622	0.891685	0.17613	.	.	ENSG00000125520	ENST00000266077	T	0.33438	1.41	4.08	3.07	0.35406	.	0.211659	0.23160	U	0.051245	T	0.26376	0.0644	L	0.55481	1.735	0.09310	N	1	P	0.50528	0.936	B	0.42030	0.373	T	0.14200	-1.0481	10	0.40728	T	0.16	.	7.8892	0.29667	0.0:0.294:0.5475:0.1585	.	129	Q9NR83	S2A4R_HUMAN	N	129	ENSP00000266077:S129N	ENSP00000266077:S129N	S	+	2	0	SLC2A4RG	61843271	0.288000	0.24324	0.194000	0.23346	0.096000	0.18686	1.799000	0.38824	1.847000	0.53656	0.491000	0.48974	AGC		0.627	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		29	182	0	0	0	1	0	29	182					A	62372827	G	A	62372827	3	1	79	1	0	0	0	0	1	0	0	0	14597	971	34	2	396	2	SLC2A4RG	20	62372827	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	51033	62372827	652693	20482	30799											
ZBTB46	140685	broad.mit.edu	37	chr20	62407098	62407098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcatcccccagcacgtcGgccttcagcgacagcaggct	10	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62407098G>A	ENST00000245663.4	-	3	1305	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_ENST00000395104.1_Silent_p.A385A|ZBTB46_ENST00000302995.2_Silent_p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	385					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)	p.A385A(1)		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)					CCAGCACGTCGGCCTTCAGCG	0.677											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245663.4																			1	Substitution - coding silent(1)	p.A385A(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1153-1155)gcC>gcT		zinc finger and BTB domain containing 46							52	55	54					20																	62407098		2203	4300	6503	SO:0001819	synonymous_variant	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62407098G>A	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.1155C>T	20.37:g.62407098G>A			OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	ZBTB46_ENST00000302995.2_Silent_p.A385A|ZBTB46_ENST00000395104.1_Silent_p.A385A	p.A385A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			3	1305	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		385					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Silent	SNP	ENST00000245663.4	37	c.1155C>T	CCDS13538.1																																																																																				0.677	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		99	398	0	0	0	1	0	99	398					A	62407098	G	A	62407098	2	1	79	1	0	0	0	0	0	0	0	1	17600	1103	39	1		1	ZBTB46	20	62407098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34271	62407098	618422	20483	30800											
ZBTB46	140685	broad.mit.edu	37	chr20	62421293	62421293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggtctctttgtttttcCgattcttccttcggcccgtg	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62421293C>T	ENST00000245663.4	-	2	968	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q|ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q|ZBTB46_ENST00000480766.1_5'Flank	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	273					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)					TTTGTTTTTCCGATTCTTCCT	0.627																																						ENST00000245663.4																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(817-819)cGg>cAg		zinc finger and BTB domain containing 46							82	78	79					20																	62421293		2203	4300	6503	SO:0001583	missense	140685				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr20:62421293C>T	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.818G>A	20.37:g.62421293C>T	ENSP00000245663:p.Arg273Gln					ZBTB46_ENST00000302995.2_Missense_Mutation_p.R273Q|ZBTB46_ENST00000395104.1_Missense_Mutation_p.R273Q	p.R273Q	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN			2	968	-	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)		273					E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	ENST00000245663.4	37	c.818G>A	CCDS13538.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461000	0.63513	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.12774	2.65;2.65;2.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	M	0.63843	1.955	0.47123	D	0.999327	D	0.57899	0.981	P	0.46275	0.51	T	0.04870	-1.0921	10	0.11794	T	0.64	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	273	Q86UZ6	ZBT46_HUMAN	Q	273	ENSP00000245663:R273Q;ENSP00000303102:R273Q;ENSP00000378536:R273Q	ENSP00000245663:R273Q	R	-	2	0	ZBTB46	61891737	0.997000	0.39634	0.966000	0.40874	0.785000	0.44390	5.613000	0.67688	2.749000	0.94314	0.655000	0.94253	CGG		0.627	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080232.2	NM_025224		105	429	0	0	0	1	0	105	429					T	62421293	C	T	62421293	3	4	79	1	0	0	0	0	1	0	0	0	17600	652	23	1	967	1	ZBTB46	20	62421293	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14195	62421293	604227	20484	30801											
C20orf135	140701	broad.mit.edu	37	chr20	62493574	62493574	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacgccatggacgtggtggtCgagtacgcactgcaccgcct	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62493574C>T	ENST00000369916.3	+	1	1009	c.681C>T	c.(679-681)gtC>gtT	p.V227V	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	227							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						ACGTGGTGGTCGAGTACGCAC	0.687																																						ENST00000369916.3																			0				endometrium(2)|kidney(1)|lung(3)	6						c.(679-681)gtC>gtT		abhydrolase domain containing 16B							41	35	37					20																	62493574		2201	4299	6500	SO:0001819	synonymous_variant	140701						hydrolase activity	g.chr20:62493574C>T		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.681C>T	20.37:g.62493574C>T							p.V227V	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN			1	1009	+			227						Silent	SNP	ENST00000369916.3	37	c.681C>T	CCDS13539.1																																																																																				0.687	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			27	145	0	0	0	1	0	27	145					T	62493574	C	T	62493574	2	4	79	1	0	0	0	0	0	0	0	1	2095	871	31	1		1	C20orf135	20	62493574	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72281	62493574	531946	20485	30802											
TPD52L2	7165	broad.mit.edu	37	chr20	62514152	62514152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgggctctgccatcaGcaggaagcttggagacatga	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62514152G>A	ENST00000346249.4	+	5	531	c.455G>A	c.(454-456)aGc>aAc	p.S152N	TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N|TPD52L2_ENST00000217121.5_Missense_Mutation_p.S152N|TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	152					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCTGCCATCAGCAGGAAGCTT	0.552																																						ENST00000217121.5																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(454-456)aGc>aAc		tumor protein D52-like 2							97	73	81					20																	62514152		2203	4300	6503	SO:0001583	missense	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62514152G>A	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.455G>A	20.37:g.62514152G>A	ENSP00000343547:p.Ser152Asn					TPD52L2_ENST00000358548.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000348257.5_Missense_Mutation_p.S132N|TPD52L2_ENST00000346249.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000351424.4_Missense_Mutation_p.S132N|TPD52L2_ENST00000352482.4_Missense_Mutation_p.S152N|TPD52L2_ENST00000369927.4_Missense_Mutation_p.S109N	p.S152N	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN			5	527	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		152					B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	c.455G>A	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242139	0.79912	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.15	5.15	0.70609	.	0.147707	0.64402	D	0.000017	T	0.49201	0.1543	M	0.82193	2.58	0.40483	D	0.980467	P;P;B;D;B;P;P;B;B	0.53885	0.464;0.661;0.433;0.963;0.433;0.454;0.765;0.254;0.433	P;P;P;P;P;B;B;B;P	0.58780	0.579;0.456;0.561;0.845;0.561;0.357;0.357;0.375;0.456	T	0.56792	-0.7920	10	0.72032	D	0.01	-20.0996	13.3671	0.60692	0.0:0.1579:0.8421:0.0	.	109;103;152;132;152;132;132;152;152	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	N	109;152;132;152;132;152;132	ENSP00000358943:S109N;ENSP00000343547:S152N;ENSP00000343554:S132N;ENSP00000344647:S152N;ENSP00000340006:S132N;ENSP00000217121:S152N;ENSP00000351350:S132N	ENSP00000217121:S152N	S	+	2	0	TPD52L2	61984596	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.296000	0.72751	2.401000	0.81631	0.561000	0.74099	AGC		0.552	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1			36	178	0	0	0	1	0	36	178					A	62514152	G	A	62514152	3	1	79	1	0	0	0	0	1	0	0	0	16452	971	34	2	473	2	TPD52L2	20	62514152	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20578	62514152	511368	20486	30803											
DNAJC5	80331	broad.mit.edu	37	chr20	62560750	62560750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagatcaacaacgcgcacGccatcctcacggacgccaca	9	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560750G>A	ENST00000360864.4	+	3	346	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	65	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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)					CAACGCGCACGCCATCCTCAC	0.547																																						ENST00000360864.4																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5						c.(193-195)Gcc>Acc		DnaJ (Hsp40) homolog, subfamily C, member 5							158	120	133					20																	62560750		2203	4300	6503	SO:0001583	missense	80331				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr20:62560750G>A		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.193G>A	20.37:g.62560750G>A	ENSP00000354111:p.Ala65Thr					DNAJC5_ENST00000369911.2_Missense_Mutation_p.A65T	p.A65T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN			3	346	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		65			J.		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	37	c.193G>A	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196237	0.58126	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.30182	1.54;1.54	5.4	4.45	0.53987	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.102238	0.64402	N	0.000002	T	0.19087	0.0458	N	0.16016	0.355	0.53688	D	0.999977	B;B	0.18310	0.024;0.027	B;B	0.16289	0.013;0.015	T	0.03910	-1.0993	10	0.23891	T	0.37	.	14.429	0.67236	0.0717:0.0:0.9283:0.0	.	65;65	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	65	ENSP00000358927:A65T;ENSP00000354111:A65T	ENSP00000354111:A65T	A	+	1	0	DNAJC5	62031194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.517000	0.53443	1.419000	0.47118	0.650000	0.86243	GCC		0.547	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		87	309	0	0	0	1	0	87	309					A	62560750	G	A	62560750	3	1	79	1	0	0	0	0	1	0	0	0	4666	1087	38	1	199	1	DNAJC5	20	62560750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46598	62560750	464770	20487	30804											
DNAJC5	80331	broad.mit.edu	37	chr20	62560765	62560765	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacgccatcctcacggacGccacaaaaaggaacatctac	7	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560765G>A	ENST00000360864.4	+	3	361	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	70	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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)					CCTCACGGACGCCACAAAAAG	0.557																																						ENST00000360864.4																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5						c.(208-210)Gcc>Acc		DnaJ (Hsp40) homolog, subfamily C, member 5							159	123	135					20																	62560765		2203	4300	6503	SO:0001583	missense	80331				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr20:62560765G>A		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.208G>A	20.37:g.62560765G>A	ENSP00000354111:p.Ala70Thr					DNAJC5_ENST00000369911.2_Missense_Mutation_p.A70T	p.A70T	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN			3	361	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		70			J.		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	37	c.208G>A	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974454	0.53720	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.29917	1.55;1.55	5.4	4.44	0.53790	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.051899	0.85682	D	0.000000	T	0.21590	0.0520	N	0.17278	0.47	0.37425	D	0.913797	B;B	0.19583	0.014;0.037	B;B	0.13407	0.005;0.009	T	0.06588	-1.0818	10	0.41790	T	0.15	.	16.0043	0.80349	0.0:0.0:0.8645:0.1355	.	70;70	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	T	70	ENSP00000358927:A70T;ENSP00000354111:A70T	ENSP00000354111:A70T	A	+	1	0	DNAJC5	62031209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.856000	0.55964	1.409000	0.46915	0.650000	0.86243	GCC		0.557	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		85	374	0	0	0	1	0	85	374					A	62560765	G	A	62560765	3	1	79	1	0	0	0	0	1	0	0	0	4666	1087	38	1	214	1	DNAJC5	20	62560765	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15	62560765	464755	20488	30805											
ZNF512B	57473	broad.mit.edu	37	chr20	62592748	62592748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacagcggtacttccctgCcaggtgggccccctgcaatg	12	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62592748C>T	ENST00000450537.1	-	16	2401	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	781					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)					TACTTCCCTGCCAGGTGGGCC	0.592																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(2341-2343)Gca>Aca		zinc finger protein 512B							89	79	83					20																	62592748		2202	4300	6502	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62592748C>T	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.2341G>A	20.37:g.62592748C>T	ENSP00000393795:p.Ala781Thr					ZNF512B_ENST00000217130.3_Missense_Mutation_p.A781T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.A781T	p.A781T			Q96KM6	Z512B_HUMAN			16	2401	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		781					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2341G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460950	0.26248	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24151	1.87;1.87;1.87	5.23	5.23	0.72850	.	0.252101	0.34314	N	0.004076	T	0.18759	0.0450	N	0.17082	0.46	0.23559	N	0.997415	B	0.33777	0.425	B	0.32465	0.146	T	0.12016	-1.0564	10	0.28530	T	0.3	-10.0442	18.7906	0.91973	0.0:1.0:0.0:0.0	.	781	Q96KM6	Z512B_HUMAN	T	781	ENSP00000358904:A781T;ENSP00000393795:A781T;ENSP00000217130:A781T	ENSP00000217130:A781T	A	-	1	0	ZNF512B	62063192	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.092000	0.50207	2.448000	0.82819	0.591000	0.81541	GCA		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		25	292	0	0	0	1	0	25	292					T	62592748	C	T	62592748	3	4	79	1	0	0	0	0	1	0	0	0	18010	739	26	2	345	2	ZNF512B	20	62592748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31983	62592748	432772	20489	30806											
ZNF512B	57473	broad.mit.edu	37	chr20	62594982	62594982	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacggtaccttggcactgtGctcggccatagtgtggtagt	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62594982G>A	ENST00000450537.1	-	10	1747	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y	ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y|ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	563					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)					TTGGCACTGTGCTCGGCCATA	0.622																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(1687-1689)Cac>Tac		zinc finger protein 512B							101	94	96					20																	62594982		2202	4300	6502	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62594982G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1687C>T	20.37:g.62594982G>A	ENSP00000393795:p.His563Tyr					ZNF512B_ENST00000217130.3_Missense_Mutation_p.H563Y|ZNF512B_ENST00000369888.1_Missense_Mutation_p.H563Y	p.H563Y			Q96KM6	Z512B_HUMAN			10	1747	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		563					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1687C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709041	0.68615	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.37915	1.17;1.17;1.17	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.134765	0.49305	D	0.000155	T	0.56247	0.1972	M	0.62723	1.935	0.49051	D	0.999748	D	0.71674	0.998	D	0.83275	0.996	T	0.60692	-0.7213	10	0.87932	D	0	-15.5574	13.504	0.61474	0.0:0.1574:0.8426:0.0	.	563	Q96KM6	Z512B_HUMAN	Y	563	ENSP00000358904:H563Y;ENSP00000393795:H563Y;ENSP00000217130:H563Y	ENSP00000217130:H563Y	H	-	1	0	ZNF512B	62065426	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.971000	0.63749	2.004000	0.58718	0.411000	0.27672	CAC		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		28	379	0	0	0	1	0	28	379					A	62594982	G	A	62594982	3	1	79	1	0	0	0	0	1	0	0	0	18010	1319	46	2	1023	2	ZNF512B	20	62594982	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2234	62594982	430538	20490	30807											
ZNF512B	57473	broad.mit.edu	37	chr20	62595140	62595140	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccttccgggagctgccttAccttctgacacacctccatg	8	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	ENST00000450537.1	-	9	1666		c.e9+1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site			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)					GAGCTGCCTTACCTTCTGACA	0.637																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.e9+1		zinc finger protein 512B							85	84	84					20																	62595140		2203	4300	6503	SO:0001630	splice_region_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62595140A>T	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.1605+1T>A	20.37:g.62595140A>T						ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site				Q96KM6	Z512B_HUMAN			9	1666	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)							Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	37		CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811542	0.70797	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8107	0.52181	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF512B	62065584	1.000000	0.71417	0.982000	0.44146	0.877000	0.50540	6.611000	0.74183	1.611000	0.50210	0.383000	0.25322	.		0.637	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	Intron	153	646	0	0	0	1	0	153	646					T	62595140	A	T	62595140	5	4	79	1	0	0	0	0	0	0	1	0	18010	405	14	5	1107	5	ZNF512B	20	62595140	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	158	62595140	430380	20491	30808											
ZNF512B	57473	broad.mit.edu	37	chr20	62597563	62597563	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acctggtcagcagcaccattTtgcagggcggtgtgtgtctg	14	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62597563T>G	ENST00000450537.1	-	5	1025	c.965A>C	c.(964-966)aAa>aCa	p.K322T	ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	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)			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)					CAGCACCATTTTGCAGGGCGG	0.592																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(964-966)aAa>aCa		zinc finger protein 512B							112	100	104					20																	62597563		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597563T>G	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.965A>C	20.37:g.62597563T>G	ENSP00000393795:p.Lys322Thr					ZNF512B_ENST00000217130.3_Missense_Mutation_p.K322T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K322T	p.K322T			Q96KM6	Z512B_HUMAN			5	1025	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		322					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.965A>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034312	0.75617	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.24908	1.83;1.83;1.83	5.54	5.54	0.83059	.	0.397373	0.24054	N	0.041980	T	0.42539	0.1207	L	0.50333	1.59	0.36736	D	0.881961	D	0.76494	0.999	D	0.66716	0.946	T	0.49418	-0.8942	10	0.52906	T	0.07	-18.8106	12.063	0.53572	0.0:0.0:0.0:1.0	.	322	Q96KM6	Z512B_HUMAN	T	322	ENSP00000358904:K322T;ENSP00000393795:K322T;ENSP00000217130:K322T	ENSP00000217130:K322T	K	-	2	0	ZNF512B	62068007	0.929000	0.31497	0.964000	0.40570	0.984000	0.73092	0.328000	0.19681	2.104000	0.64026	0.477000	0.44152	AAA		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		89	439	0	0	0	1	0	89	439					G	62597563	T	G	62597563	3	3	79	1	0	0	0	0	1	0	0	0	18010	1841	64	4	1765	4	ZNF512B	20	62597563	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2423	62597563	427957	20492	30809											
ZNF512B	57473	broad.mit.edu	37	chr20	62598231	62598231	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgacccacagtcccttacccCttggcaccgctggtaatggt	9	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62598231C>A	ENST00000450537.1	-	4	451	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	131					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)					TCCCTTACCCCTTGGCACCGC	0.622																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(391-393)Ggg>Tgg		zinc finger protein 512B							97	86	90					20																	62598231		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598231C>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.391G>T	20.37:g.62598231C>A	ENSP00000393795:p.Gly131Trp					ZNF512B_ENST00000217130.3_Missense_Mutation_p.G131W|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G131W	p.G131W			Q96KM6	Z512B_HUMAN			4	451	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		131					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.391G>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679002	0.88542	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.30714	1.52;1.52;1.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.29908	0.895	0.47698	D	0.999499	D	0.89917	1.0	D	0.97110	1.0	T	0.45991	-0.9223	10	0.87932	D	0	-37.8379	17.032	0.86463	0.0:1.0:0.0:0.0	.	131	Q96KM6	Z512B_HUMAN	W	131	ENSP00000358904:G131W;ENSP00000393795:G131W;ENSP00000217130:G131W	ENSP00000217130:G131W	G	-	1	0	ZNF512B	62068675	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.167000	0.77562	2.451000	0.82905	0.585000	0.79938	GGG		0.622	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		43	223	1	0	6.48837e-15	1	7.06796e-15	43	223					A	62598231	C	A	62598231	3	1	79	1	0	0	0	0	1	0	0	0	18010	681	24	3	2343	3	ZNF512B	20	62598231	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	668	62598231	427289	20493	30810											
TCEA2	6919	broad.mit.edu	37	chr20	62701711	62701711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaaccctgacctgcggCggaatgtgctgtgtggggcc	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62701711C>T	ENST00000343484.5	+	7	785	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.R179W	NM_003195.4	NP_003186.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	206	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGACCTGCGGCGGAATGTGCT	0.582																																						ENST00000361317.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12						c.(535-537)Cgg>Tgg		transcription elongation factor A (SII), 2							121	100	107					20																	62701711		2203	4300	6503	SO:0001583	missense	6919				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding	g.chr20:62701711C>T	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026	ENST00000343484.5:c.616C>T	20.37:g.62701711C>T	ENSP00000343515:p.Arg206Trp					TCEA2_ENST00000343484.5_Missense_Mutation_p.R206W|TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR	p.R179W	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN			8	977	+	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		206			TFIIS central.		B3KNM1|Q8TD37|Q8TD38	Missense_Mutation	SNP	ENST00000343484.5	37	c.535C>T	CCDS13553.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104062	0.56291	.	.	ENSG00000171703	ENST00000361317;ENST00000343484;ENST00000339217;ENST00000440819;ENST00000458442	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	3.97	-0.0952	0.13642	Transcription elongation factor S-IIM (1);Transcription elongation factor S-II, central domain (4);	0.230417	0.37219	N	0.002183	T	0.63177	0.2489	M	0.90542	3.125	0.37110	D	0.900287	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.968;0.968;0.997	T	0.66304	-0.5957	10	0.87932	D	0	-1.4833	6.2334	0.20750	0.6126:0.2791:0.0:0.1083	.	206;206;179	Q15560;Q6IB64;B3KNM1	TCEA2_HUMAN;.;.	W	179;206;179;179;179	ENSP00000354552:R179W;ENSP00000343515:R206W;ENSP00000339432:R179W;ENSP00000407085:R179W;ENSP00000416026:R179W	ENSP00000339432:R179W	R	+	1	2	TCEA2	62172155	0.005000	0.15991	0.044000	0.18714	0.782000	0.44232	0.247000	0.18179	0.248000	0.21435	0.561000	0.74099	CGG		0.582	TCEA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080277.2	NM_198723		74	303	0	0	0	1	0	74	303					T	62701711	C	T	62701711	3	4	79	1	0	0	0	0	1	0	0	0	15720	759	27	1	642	1	TCEA2	20	62701711	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103480	62701711	323809	20494	30811											
RGS19	10287	broad.mit.edu	37	chr20	62705215	62705215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggggcggcctaggcctcGgaggaggactgtgatggccc	19	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705215G>A	ENST00000395042.1	-	6	911	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S215S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	215	Interaction with GIPC.				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)					CCTAGGCCTCGGAGGAGGACT	0.662																																						ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(643-645)tcC>tcT		regulator of G-protein signaling 19							66	60	62					20																	62705215		2203	4300	6503	SO:0001819	synonymous_variant	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705215G>A	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.645C>T	20.37:g.62705215G>A						RGS19_ENST00000332298.5_Silent_p.S215S	p.S215S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			6	911	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		215			Interaction with GIPC.		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	c.645C>T	CCDS13555.1																																																																																				0.662	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		49	282	0	0	0	1	0	49	282					A	62705215	G	A	62705215	2	1	79	1	0	0	0	0	0	0	0	1	13351	1103	39	1		1	RGS19	20	62705215	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3504	62705215	320305	20495	30812											
RGS19	10287	broad.mit.edu	37	chr20	62705620	62705620	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagagcatgttctcctcGctgtactctgtccgcaggaa	10	12	2	2	rs370731911		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000493165.1_5'Flank|RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20241	0.001		0.0	False		,,,				2504	0.0					ENST00000395042.1																			0				lung(1)|prostate(1)|skin(1)	3						c.(337-339)agC>agT		regulator of G-protein signaling 19		G	,	0,4406		0,0,2203	85	69	74		339,339	1.6	1	20		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RGS19	NM_001039467.1,NM_005873.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/218,113/218	62705620	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10287				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr20:62705620G>A	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.339C>T	20.37:g.62705620G>A						RGS19_ENST00000332298.5_Silent_p.S113S	p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN			5	605	-	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)		113			RGS.		A8K216|E1P5G9|Q53XN0|Q8TD60	Silent	SNP	ENST00000395042.1	37	c.339C>T	CCDS13555.1																																																																																				0.612	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080273.1	NM_005873		9	269	0	0	0	1	0	9	269					A	62705620	G	A	62705620	2	1	79	1	0	0	0	0	0	0	0	1	13351	1078	38	1		1	RGS19	20	62705620	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	405	62705620	319900	20496	30813											
OPRL1	4987	broad.mit.edu	37	chr20	62729775	62729775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcggctccgtggagtcCgcctgctctcgggctcccga	14	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729775C>T	ENST00000349451.3	+	6	1148	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	OPRL1_ENST00000336866.2_Missense_Mutation_p.R246C|OPRL1_ENST00000355631.4_Missense_Mutation_p.R246C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	246					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)					CCGTGGAGTCCGCCTGCTCTC	0.632																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(736-738)Cgc>Tgc		opiate receptor-like 1							158	137	144					20																	62729775		2202	4300	6502	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729775C>T		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.736C>T	20.37:g.62729775C>T	ENSP00000336764:p.Arg246Cys					OPRL1_ENST00000355631.4_Missense_Mutation_p.R246C|OPRL1_ENST00000336866.2_Missense_Mutation_p.R246C	p.R246C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1148	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		246					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.736C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337157	0.60963	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.40225	1.04;1.04;1.04	4.63	4.63	0.57726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.79931	-0.1595	10	0.59425	D	0.04	.	17.5018	0.87734	0.0:1.0:0.0:0.0	.	241;246	P41146-2;P41146	.;OPRX_HUMAN	C	246	ENSP00000336843:R246C;ENSP00000347848:R246C;ENSP00000336764:R246C	ENSP00000336843:R246C	R	+	1	0	OPRL1	62200219	1.000000	0.71417	0.701000	0.30321	0.048000	0.14542	5.782000	0.68973	2.127000	0.65507	0.500000	0.49745	CGC		0.632	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		121	549	0	0	0	1	0	121	549					T	62729775	C	T	62729775	3	4	79	1	0	0	0	0	1	0	0	0	10928	652	23	1	746	1	OPRL1	20	62729775	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24155	62729775	295745	20497	30814											
OPRL1	4987	broad.mit.edu	37	chr20	62729818	62729818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaccggaacctgcggcGcatcactcggctggtgctgg	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729818G>A	ENST00000349451.3	+	6	1191	c.779G>A	c.(778-780)cGc>cAc	p.R260H	OPRL1_ENST00000336866.2_Missense_Mutation_p.R260H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R260H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	260					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)					AACCTGCGGCGCATCACTCGG	0.667																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(778-780)cGc>cAc		opiate receptor-like 1							95	85	88					20																	62729818		2203	4299	6502	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729818G>A		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.779G>A	20.37:g.62729818G>A	ENSP00000336764:p.Arg260His					OPRL1_ENST00000355631.4_Missense_Mutation_p.R260H|OPRL1_ENST00000336866.2_Missense_Mutation_p.R260H	p.R260H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1191	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		260					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.779G>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064555	0.93898	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.43688	0.94;0.94;0.94	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71745	0.3376	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	T	0.79808	-0.1647	10	0.87932	D	0	.	17.7855	0.88536	0.0:0.0:1.0:0.0	.	255;260	P41146-2;P41146	.;OPRX_HUMAN	H	260	ENSP00000336843:R260H;ENSP00000347848:R260H;ENSP00000336764:R260H	ENSP00000336843:R260H	R	+	2	0	OPRL1	62200262	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.785000	0.85724	2.193000	0.70182	0.500000	0.49745	CGC		0.667	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		19	476	0	0	0	1	0	19	476					A	62729818	G	A	62729818	3	1	79	1	0	0	0	0	1	0	0	0	10928	1087	38	1	789	1	OPRL1	20	62729818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43	62729818	295702	20498	30815											
MYT1	4661	broad.mit.edu	37	chr20	62837056	62837056	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggacactgaggtgaaGgacgcctctgtttcggatga	15	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62837056G>T	ENST00000328439.1	+	6	664	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MYT1_ENST00000536311.1_Missense_Mutation_p.K100N|MYT1_ENST00000360149.4_Missense_Mutation_p.K100N	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)					CTGAGGTGAAGGACGCCTCTG	0.602																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(298-300)aaG>aaT		myelin transcription factor 1							81	71	74					20																	62837056		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62837056G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.300G>T	20.37:g.62837056G>T	ENSP00000327465:p.Lys100Asn					MYT1_ENST00000360149.4_Missense_Mutation_p.K100N|MYT1_ENST00000328439.1_Missense_Mutation_p.K100N	p.K100N			Q01538	MYT1_HUMAN			6	664	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		100					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.300G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153901	0.57259	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.50548	0.74;1.57;1.57	5.58	5.58	0.84498	.	0.252000	0.41194	D	0.000928	T	0.60051	0.2239	M	0.66939	2.045	0.24673	N	0.993402	D;D	0.59357	0.958;0.985	P;P	0.55508	0.558;0.777	T	0.58306	-0.7659	10	0.59425	D	0.04	-41.3035	13.5078	0.61493	0.0756:0.0:0.9244:0.0	.	100;100	Q01538;Q6P6D5	MYT1_HUMAN;.	N	100	ENSP00000353269:K100N;ENSP00000327465:K100N;ENSP00000442412:K100N	ENSP00000327465:K100N	K	+	3	2	MYT1	62307500	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.868000	0.48436	2.642000	0.89623	0.655000	0.94253	AAG		0.602	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		25	214	1	0	7.87624e-14	1	8.52853e-14	25	214					T	62837056	G	T	62837056	3	4	79	1	0	0	0	0	1	0	0	0	10147	991	35	3	314	3	MYT1	20	62837056	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	107238	62837056	188464	20499	30816											
MYT1	4661	broad.mit.edu	37	chr20	62838959	62838959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcaggaaggagccccgTcaagtcccattttggatcca	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62838959T>C	ENST00000328439.1	+	7	774	c.410T>C	c.(409-411)gTc>gCc	p.V137A	MYT1_ENST00000536311.1_Missense_Mutation_p.V137A|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGCCCCGTCAAGTCCCAT	0.582																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(409-411)gTc>gCc		myelin transcription factor 1							81	89	86					20																	62838959		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62838959T>C	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.410T>C	20.37:g.62838959T>C	ENSP00000327465:p.Val137Ala					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.V137A	p.V137A			Q01538	MYT1_HUMAN			7	774	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		137					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.410T>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	6.751	0.507434	0.12883	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.36699	1.24;1.24	4.29	-0.302	0.12796	.	2.154190	0.02314	N	0.072344	T	0.18467	0.0443	N	0.15975	0.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11012	-1.0605	10	0.08381	T	0.77	-2.8656	3.0817	0.06265	0.2218:0.4444:0.0:0.3339	.	137	Q01538	MYT1_HUMAN	A	137	ENSP00000327465:V137A;ENSP00000442412:V137A	ENSP00000327465:V137A	V	+	2	0	MYT1	62309403	0.000000	0.05858	0.001000	0.08648	0.907000	0.53573	0.105000	0.15333	0.184000	0.20083	0.373000	0.22412	GTC		0.582	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		126	551	0	0	0	1	0	126	551					C	62838959	T	C	62838959	3	2	79	1	0	0	0	0	1	0	0	0	10147	1667	58	4	428	4	MYT1	20	62838959	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1903	62838959	186561	20500	30817											
MYT1	4661	broad.mit.edu	37	chr20	62839080	62839080	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgggtcaaattgctgaagaGaccctggtggaagaggactt	14	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839080G>T	ENST00000328439.1	+	7	895	c.531G>T	c.(529-531)gaG>gaT	p.E177D	MYT1_ENST00000536311.1_Missense_Mutation_p.E177D|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGCTGAAGAGACCCTGGTGG	0.612																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(529-531)gaG>gaT		myelin transcription factor 1							66	65	65					20																	62839080		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839080G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.531G>T	20.37:g.62839080G>T	ENSP00000327465:p.Glu177Asp					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E177D	p.E177D			Q01538	MYT1_HUMAN			7	895	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		177					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.531G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	9.517	1.107190	0.20714	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.47528	0.85;0.84	4.72	3.65	0.41850	.	0.186992	0.41396	D	0.000894	T	0.32406	0.0828	L	0.59436	1.845	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23583	-1.0184	10	0.02654	T	1	-17.0321	3.1077	0.06347	0.4368:0.0:0.5632:0.0	.	177	Q01538	MYT1_HUMAN	D	177	ENSP00000327465:E177D;ENSP00000442412:E177D	ENSP00000327465:E177D	E	+	3	2	MYT1	62309524	1.000000	0.71417	0.158000	0.22627	0.219000	0.24729	0.842000	0.27627	2.188000	0.69820	0.552000	0.68991	GAG		0.612	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		9	382	1	0	5.50884e-06	1	5.65664e-06	9	382					T	62839080	G	T	62839080	3	4	79	1	0	0	0	0	1	0	0	0	10147	933	33	3	549	3	MYT1	20	62839080	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121	62839080	186440	20501	30818											
MYT1	4661	broad.mit.edu	37	chr20	62839313	62839313	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcagaaaggcatccTgagtcacgaagaggaggacg	14	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839313T>C	ENST00000328439.1	+	7	1128	c.764T>C	c.(763-765)cTg>cCg	p.L255P	MYT1_ENST00000536311.1_Missense_Mutation_p.L255P|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGGCATCCTGAGTCACgaa	0.597																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(763-765)cTg>cCg		myelin transcription factor 1							27	27	27					20																	62839313		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839313T>C	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.764T>C	20.37:g.62839313T>C	ENSP00000327465:p.Leu255Pro					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.L255P	p.L255P			Q01538	MYT1_HUMAN			7	1128	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		255			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.764T>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	t	9.258	1.042377	0.19748	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.72615	-0.67;-0.67	4.05	-0.0937	0.13648	.	0.882556	0.09404	N	0.806797	T	0.54431	0.1858	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.37606	T	0.19	-0.0125	0.3961	0.00418	0.2218:0.1385:0.2294:0.4103	.	255	Q01538	MYT1_HUMAN	P	255	ENSP00000327465:L255P;ENSP00000442412:L255P	ENSP00000327465:L255P	L	+	2	0	MYT1	62309757	0.015000	0.18098	0.004000	0.12327	0.952000	0.60782	0.501000	0.22578	0.427000	0.26145	0.451000	0.29950	CTG		0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		15	91	0	0	0	1	0	15	91					C	62839313	T	C	62839313	3	2	79	1	0	0	0	0	1	0	0	0	10147	1580	55	4	782	4	MYT1	20	62839313	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	233	62839313	186207	20502	30819											
MYT1	4661	broad.mit.edu	37	chr20	62843485	62843485	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcaaccgcaacacgcAcagaaggtacttggactgag	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62843485A>G	ENST00000328439.1	+	9	1875	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	MYT1_ENST00000536311.1_Missense_Mutation_p.H504R|MYT1_ENST00000360149.4_Missense_Mutation_p.H206R	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)					CGCAACACGCACAGAAGGTAC	0.667																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1510-1512)cAc>cGc		myelin transcription factor 1							103	98	99					20																	62843485		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62843485A>G	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.1511A>G	20.37:g.62843485A>G	ENSP00000327465:p.His504Arg					MYT1_ENST00000360149.4_Missense_Mutation_p.H206R|MYT1_ENST00000328439.1_Missense_Mutation_p.H504R	p.H504R			Q01538	MYT1_HUMAN			9	1875	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		504					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1511A>G	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842425	0.51057	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.61040	0.26;0.14;1.66	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.85130	0.995;0.997;0.997	D	0.85237	0.1036	10	0.87932	D	0	-25.2467	14.0537	0.64754	1.0:0.0:0.0:0.0	.	504;504;206	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	206;504;504	ENSP00000353269:H206R;ENSP00000327465:H504R;ENSP00000442412:H504R	ENSP00000327465:H504R	H	+	2	0	MYT1	62313929	1.000000	0.71417	0.986000	0.45419	0.686000	0.39977	9.204000	0.95041	1.777000	0.52277	0.455000	0.32223	CAC		0.667	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		135	532	0	0	0	1	0	135	532					G	62843485	A	G	62843485	3	3	79	1	0	0	0	0	1	0	0	0	10147	159	6	4	1537	4	MYT1	20	62843485	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	4172	62843485	182035	20503	30820											
MYT1	4661	broad.mit.edu	37	chr20	62848447	62848447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcgtgaagcagctcgaGgtccctccatatgggagcta	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62848447G>A	ENST00000328439.1	+	11	2023	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	MYT1_ENST00000536311.1_Silent_p.E553E|MYT1_ENST00000360149.4_Silent_p.E255E	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)					AGCAGCTCGAGGTCCCTCCAT	0.632																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1657-1659)gaG>gaA		myelin transcription factor 1							83	76	79					20																	62848447		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848447G>A	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.1659G>A	20.37:g.62848447G>A						MYT1_ENST00000360149.4_Silent_p.E255E|MYT1_ENST00000328439.1_Silent_p.E553E	p.E553E			Q01538	MYT1_HUMAN			11	2023	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		553					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1659G>A	CCDS13558.1																																																																																				0.632	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		94	475	0	0	0	1	0	94	475					A	62848447	G	A	62848447	2	1	79	1	0	0	0	0	0	0	0	1	10147	991	35	2		2	MYT1	20	62848447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4962	62848447	177073	20504	30821											
MYT1	4661	broad.mit.edu	37	chr20	62863731	62863731	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgggagtttcctcaccCaccggaggtaactgtgcctg	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62863731C>T	ENST00000328439.1	+	19	3254	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	MYT1_ENST00000536311.1_Missense_Mutation_p.H991Y	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)					TTTCCTCACCCACCGGAGGTA	0.647																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2971-2973)Cac>Tac		myelin transcription factor 1							34	37	36					20																	62863731		2202	4295	6497	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62863731C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2890C>T	20.37:g.62863731C>T	ENSP00000327465:p.His964Tyr					MYT1_ENST00000328439.1_Missense_Mutation_p.H964Y	p.H991Y			Q01538	MYT1_HUMAN			19	3335	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		964					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2971C>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550199	0.65311	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.60171	0.26;0.21	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.89785	3.06	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.993;1.0	D	0.85943	0.1459	10	0.87932	D	0	-21.1337	17.4785	0.87667	0.0:1.0:0.0:0.0	.	991;964	F5H7M8;Q01538	.;MYT1_HUMAN	Y	964;991	ENSP00000327465:H964Y;ENSP00000442412:H991Y	ENSP00000327465:H964Y	H	+	1	0	MYT1	62334175	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.615000	0.83006	2.132000	0.65825	0.467000	0.42956	CAC		0.647	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		57	243	0	0	0	1	0	57	243					T	62863731	C	T	62863731	3	4	79	1	0	0	0	0	1	0	0	0	10147	594	21	2	2956	2	MYT1	20	62863731	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15284	62863731	161789	20505	30822											
MYT1	4661	broad.mit.edu	37	chr20	62868708	62868708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acctgaacgagtccaactcgGagatggaggctgccatggtg	14	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62868708G>A	ENST00000328439.1	+	21	3422	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	MYT1_ENST00000536311.1_Missense_Mutation_p.E1047K	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)					GTCCAACTCGGAGATGGAGGC	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3139-3141)Gag>Aag		myelin transcription factor 1							63	50	54					20																	62868708		2202	4296	6498	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62868708G>A	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.3058G>A	20.37:g.62868708G>A	ENSP00000327465:p.Glu1020Lys					MYT1_ENST00000328439.1_Missense_Mutation_p.E1020K	p.E1047K			Q01538	MYT1_HUMAN			21	3503	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1020					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.3139G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247965	0.80024	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.42131	0.98;0.98	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	L	0.39397	1.21	0.80722	D	1	D;B	0.76494	0.999;0.22	D;B	0.80764	0.994;0.052	T	0.36261	-0.9755	10	0.06099	T	0.92	-26.8619	19.7607	0.96316	0.0:0.0:1.0:0.0	.	1047;1020	F5H7M8;Q01538	.;MYT1_HUMAN	K	1020;1047	ENSP00000327465:E1020K;ENSP00000442412:E1047K	ENSP00000327465:E1020K	E	+	1	0	MYT1	62339152	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	6.520000	0.73773	2.686000	0.91538	0.561000	0.74099	GAG		0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		12	54	0	0	0	1	0	12	54					A	62868708	G	A	62868708	3	1	79	1	0	0	0	0	1	0	0	0	10147	1175	41	2	3132	2	MYT1	20	62868708	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4977	62868708	156812	20506	30823											
MYT1	4661	broad.mit.edu	37	chr20	62871223	62871223	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctgagccaggccctcatCcaaagtctcgccaatatccg	9	16	2	1	rs562780298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62871223C>T	ENST00000328439.1	+	22	3568	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYT1_ENST00000536311.1_Silent_p.I1095I	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)					AGGCCCTCATCCAAAGTCTCG	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18740	0.0		0.0	False		,,,				2504	0.001				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(3283-3285)atC>atT		myelin transcription factor 1							111	115	114					20																	62871223		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62871223C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3204C>T	20.37:g.62871223C>T						MYT1_ENST00000328439.1_Silent_p.I1068I	p.I1095I			Q01538	MYT1_HUMAN			22	3649	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		1068					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.3285C>T	CCDS13558.1																																																																																				0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		127	638	0	0	0	1	0	127	638					T	62871223	C	T	62871223	2	4	79	1	0	0	0	0	0	0	0	1	10147	845	30	2		2	MYT1	20	62871223	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2515	62871223	154297	20507	30824											
PCMTD2	55251	broad.mit.edu	37	chr20	62895791	62895791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaccttttaggtccttttgGtgtgaaccatggggtggaac	12	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62895791G>A	ENST00000308824.6	+	3	444	c.317G>A	c.(316-318)gGt>gAt	p.G106D	PCMTD2_ENST00000369758.4_Missense_Mutation_p.G106D|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	106						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGTCCTTTTGGTGTGAACCAT	0.388																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(316-318)gGt>gAt		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							135	114	121					20																	62895791		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62895791G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.317G>A	20.37:g.62895791G>A	ENSP00000307854:p.Gly106Asp					PCMTD2_ENST00000299468.7_Missense_Mutation_p.G106D|PCMTD2_ENST00000369758.3_Missense_Mutation_p.G106D	p.G106D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			3	444	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		106					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.317G>A	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.439190	0.83885	.	.	ENSG00000203880	ENST00000369758;ENST00000299468;ENST00000308824	T;T;T	0.53857	0.6;0.6;0.6	5.49	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.77161	-0.2689	10	0.87932	D	0	-32.6802	14.6817	0.69023	0.0711:0.0:0.9289:0.0	.	106;106	Q9NV79-2;Q9NV79	.;PCMD2_HUMAN	D	106	ENSP00000358773:G106D;ENSP00000299468:G106D;ENSP00000307854:G106D	ENSP00000299468:G106D	G	+	2	0	PCMTD2	62366235	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	8.896000	0.92521	2.589000	0.87451	0.655000	0.94253	GGT		0.388	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		42	193	0	0	0	1	0	42	193					A	62895791	G	A	62895791	3	1	79	1	0	0	0	0	1	0	0	0	11629	1261	44	2	323	2	PCMTD2	20	62895791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24568	62895791	129729	20508	30825											
PCMTD2	55251	broad.mit.edu	37	chr20	62899295	62899295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaccaaaaagattcttgCtgtttcttttgctcctctga	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62899295C>A	ENST00000308824.6	+	5	765	c.638C>A	c.(637-639)gCt>gAt	p.A213D	PCMTD2_ENST00000369758.4_Intron|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	213						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGATTCTTGCTGTTTCTTTT	0.383																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(637-639)gCt>gAt		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							108	102	104					20																	62899295		2203	4300	6503	SO:0001583	missense	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62899295C>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 36"	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.638C>A	20.37:g.62899295C>A	ENSP00000307854:p.Ala213Asp					PCMTD2_ENST00000299468.7_Missense_Mutation_p.A213D|PCMTD2_ENST00000369758.3_Intron	p.A213D	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			5	765	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		213					E1P5H3|Q8IW60|Q9H4K2	Missense_Mutation	SNP	ENST00000308824.6	37	c.638C>A	CCDS13559.1	.	.	.	.	.	.	.	.	.	.	.	16.84	3.233203	0.58777	.	.	ENSG00000203880	ENST00000299468;ENST00000308824	T;T	0.43294	0.95;0.95	5.4	5.4	0.78164	.	0.049390	0.85682	D	0.000000	T	0.36991	0.0987	L	0.29908	0.895	0.80722	D	1	B	0.24186	0.099	B	0.25140	0.058	T	0.11397	-1.0589	10	0.45353	T	0.12	-18.4738	19.5253	0.95203	0.0:1.0:0.0:0.0	.	213	Q9NV79	PCMD2_HUMAN	D	213	ENSP00000299468:A213D;ENSP00000307854:A213D	ENSP00000299468:A213D	A	+	2	0	PCMTD2	62369739	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.879000	0.75572	2.696000	0.92011	0.650000	0.86243	GCT		0.383	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		66	255	1	0	1.33661e-31	1	1.57467e-31	66	255					A	62899295	C	A	62899295	3	1	79	1	0	0	0	0	1	0	0	0	11629	797	28	3	652	3	PCMTD2	20	62899295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3504	62899295	126225	20509	30826											
TPTE	7179	broad.mit.edu	37	chr21	10914364	10914364	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcacatgttttctcttaccGaacattttcctaatgaaata	3	9	2	1	rs147105244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	ENST00000361285.4	-	21	1684	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	TPTE_ENST00000298232.7_Splice_Site_p.S434L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S414L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	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)	p.S434L(1)|p.S452L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTCTTACCGAACATTTTCC	0.323																																						ENST00000298232.7																			2	Substitution - Missense(2)	p.S434L(1)|p.S452L(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e20+1		transmembrane phosphatase with tensin homology							69	61	64					21																	10914364		2203	4297	6500	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10914364G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1356+1C>T	21.37:g.10914364G>A						TPTE_ENST00000342420.5_Splice_Site_p.S414_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S452_splice	p.S434_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	20	1668	-			452			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.1302_splice	CCDS13560.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	6.164	0.398388	0.11696	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85258	-1.96;-1.96;-1.96	2.15	-4.3	0.03710	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.599517	0.17053	U	0.188874	T	0.68559	0.3014	L	0.36672	1.1	0.09310	N	1	B;B;B	0.23442	0.001;0.003;0.085	B;B;B	0.20184	0.005;0.005;0.028	T	0.54476	-0.8288	10	0.39692	T	0.17	3.7407	0.1082	0.00054	0.262:0.2651:0.1721:0.3007	.	414;434;452	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	434;452;414	ENSP00000298232:S434L;ENSP00000355208:S452L;ENSP00000344441:S414L	ENSP00000298232:S434L	S	-	2	0	TPTE	9936235	0.008000	0.16893	0.024000	0.17045	0.133000	0.20885	-1.503000	0.02277	-1.193000	0.02688	0.184000	0.17185	TCG		0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	19	220	0	0	0	1	0	19	220					A	10914364	G	A	10914364	5	1	79	1	0	0	0	0	0	0	1	0	16483	1072	37	1	316	1	TPTE	21	10914364	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08		10914364	37215531	20510	30827											
BAGE2	85319	broad.mit.edu	37	chr21	11049580	11049580	+	RNA	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaagaactgatctaagaggtCtcccgggctgtcgcacactg	11	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11049580C>A	ENST00000470054.1	-	0	528							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTAAGAGGTCTCCCGGGCTG	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							75	58	63					21																	11049580		692	1590	2282			85319							g.chr21:11049580C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049580C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	528	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		38	959	1	0	1.32181e-22	1	1.49747e-22	38	959					A	11049580	C	A	11049580	1	1	79	0	1	0	0	0	0	0	0	0	1293	912	32	3		3	BAGE2	21	11049580	RNA	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135216	11049580	37080315	20511	30828											
BAGE	85319	broad.mit.edu	37	chr21	11098737	11098737	+	RNA	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttactgctccggccgccaTcttactgctccagccccact	6	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:11098737T>A	ENST00000470054.1	-	0	188							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccggccgccatcttactgctc	0.637																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							104	151	135					21																	11098737		2128	4264	6392			85319							g.chr21:11098737T>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098737T>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	188	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.637	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		21	1229	0	0	0	1	0	21	1229					A	11098737	T	A	11098737	1	1	79	0	1	0	0	0	0	0	0	0	1292	1435	50	5		5	BAGE	21	11098737	RNA	SNP	T	TCGA-IB-7651-01A-11D-2154-08	49157	11098737	37031158	20512	30829											
RBM11	54033	broad.mit.edu	37	chr21	15592002	15592002	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgccatagctttgctgaatgGaattcgtttatatggaagac	10	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15592002G>T	ENST00000400577.3	+	2	224	c.215G>T	c.(214-216)gGa>gTa	p.G72V	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	72	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTGCTGAATGGAATTCGTTTA	0.393																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(214-216)gGa>gTa		RNA binding motif protein 11							99	90	93					21																	15592002		1568	3582	5150	SO:0001583	missense	54033						nucleotide binding|RNA binding	g.chr21:15592002G>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.215G>T	21.37:g.15592002G>T	ENSP00000383421:p.Gly72Val					RBM11_ENST00000468643.1_3'UTR	p.G72V	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	2	224	+			72			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	ENST00000400577.3	37	c.215G>T	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467415	0.84533	.	.	ENSG00000185272	ENST00000400577	D	0.82255	-1.59	5.29	5.29	0.74685	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000016	D	0.94716	0.8295	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96230	0.9167	10	0.72032	D	0.01	-19.4528	18.9174	0.92512	0.0:0.0:1.0:0.0	.	72	P57052	RBM11_HUMAN	V	72	ENSP00000383421:G72V	ENSP00000383421:G72V	G	+	2	0	RBM11	14513873	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.000000	0.70678	2.661000	0.90470	0.655000	0.94253	GGA		0.393	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		22	135	1	0	7.41877e-09	1	7.77385e-09	22	135					T	15592002	G	T	15592002	3	4	79	1	0	0	0	0	1	0	0	0	13162	1174	41	3	221	3	RBM11	21	15592002	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4493265	15592002	32537893	20513	30830											
HSPA13	6782	broad.mit.edu	37	chr21	15747996	15747996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acattgctcgggttagaaacAtccctccttgtttattcagt	7	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15747996A>G	ENST00000285667.3	-	4	792	c.725T>C	c.(724-726)aTg>aCg	p.M242T	HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T|HSPA13_ENST00000478035.1_5'Flank	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	242						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTAGAAACATCCCTCCTTG	0.532																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(724-726)aTg>aCg		heat shock protein 70kDa family, member 13							104	99	101					21																	15747996		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15747996A>G		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.725T>C	21.37:g.15747996A>G	ENSP00000285667:p.Met242Thr					HSPA13_ENST00000544452.1_Missense_Mutation_p.M34T	p.M242T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			4	792	-			242					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.725T>C	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509572	0.85282	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.00922	5.54;5.54	5.86	5.86	0.93980	.	0.102150	0.85682	D	0.000000	T	0.02418	0.0074	N	0.13198	0.31	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71034	-0.4709	10	0.87932	D	0	-27.1554	16.2487	0.82472	1.0:0.0:0.0:0.0	.	242	P48723	HSP13_HUMAN	T	242;34	ENSP00000285667:M242T;ENSP00000441986:M34T	ENSP00000285667:M242T	M	-	2	0	HSPA13	14669867	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.390000	0.79816	2.243000	0.73865	0.523000	0.50628	ATG		0.532	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			91	372	0	0	0	1	0	91	372					G	15747996	A	G	15747996	3	3	79	1	0	0	0	0	1	0	0	0	7436	217	8	4	698	4	HSPA13	21	15747996	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	155994	15747996	32381899	20514	30831											
HSPA13	6782	broad.mit.edu	37	chr21	15753528	15753528	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagattaatcacttaccttaAatgggtatctgccaatttca	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15753528A>C	ENST00000285667.3	-	2	429	c.362T>G	c.(361-363)tTt>tGt	p.F121C	HSPA13_ENST00000544452.1_De_novo_Start_InFrame|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	121						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTTACCTTAAATGGGTATCT	0.328																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(361-363)tTt>tGt		heat shock protein 70kDa family, member 13							83	86	85					21																	15753528		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15753528A>C		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.362T>G	21.37:g.15753528A>C	ENSP00000285667:p.Phe121Cys					HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_De_novo_Start_InFrame	p.F121C	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			2	429	-			121					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.362T>G	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299836	0.81136	.	.	ENSG00000155304	ENST00000285667	T	0.01084	5.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00451	-1.1731	10	0.87932	D	0	-21.1643	15.8391	0.78831	1.0:0.0:0.0:0.0	.	121	P48723	HSP13_HUMAN	C	121	ENSP00000285667:F121C	ENSP00000285667:F121C	F	-	2	0	HSPA13	14675399	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.958000	0.93099	2.144000	0.66660	0.528000	0.53228	TTT		0.328	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			106	352	0	0	0	1	0	106	352					C	15753528	A	C	15753528	3	2	79	1	0	0	0	0	1	0	0	0	7436	14	1	4	1069	4	HSPA13	21	15753528	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5532	15753528	32376367	20515	30832											
NRIP1	8204	broad.mit.edu	37	chr21	16339699	16339699	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgctgcaaatgggcttcgCttgacagaagtaatgctaac	10	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:16339699C>T	ENST00000400202.1	-	3	1527	c.815G>A	c.(814-816)aGc>aAc	p.S272N	NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N|NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	272	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGGGCTTCGCTTGACAGAAG	0.453																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(814-816)aGc>aAc		nuclear receptor interacting protein 1							157	142	147					21																	16339699		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339699C>T	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.815G>A	21.37:g.16339699C>T	ENSP00000383063:p.Ser272Asn					NRIP1_ENST00000318948.4_Missense_Mutation_p.S272N|NRIP1_ENST00000400199.1_Missense_Mutation_p.S272N	p.S272N			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1527	-			272			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.815G>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398344	0.83120	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.22134	1.97;1.97;1.97	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34527	-0.9825	10	0.87932	D	0	-15.7639	20.4753	0.99175	0.0:1.0:0.0:0.0	.	272	P48552	NRIP1_HUMAN	N	272	ENSP00000383060:S272N;ENSP00000383063:S272N;ENSP00000327213:S272N	ENSP00000327213:S272N	S	-	2	0	NRIP1	15261570	1.000000	0.71417	0.975000	0.42487	0.967000	0.64934	7.487000	0.81328	2.844000	0.97970	0.650000	0.86243	AGC		0.453	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		70	383	0	0	0	1	0	70	383					T	16339699	C	T	16339699	3	4	79	1	0	0	0	0	1	0	0	0	10694	797	28	2	2665	2	NRIP1	21	16339699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	586171	16339699	31790196	20516	30833											
USP25	29761	broad.mit.edu	37	chr21	17181149	17181149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtgagtgagtttacaCacaaattattagattggtta	9	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181149C>T	ENST00000285679.6	+	8	1171	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.H268Y|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	268	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)		TGAGTTTACACACAAATTATT	0.348																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(802-804)Cac>Tac		ubiquitin specific peptidase 25							73	70	71					21																	17181149		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17181149C>T	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.802C>T	21.37:g.17181149C>T	ENSP00000285679:p.His268Tyr					USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.H268Y|USP25_ENST00000400183.2_Missense_Mutation_p.H268Y|USP25_ENST00000547201.1_3'UTR	p.H268Y			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	8	1171	+			268					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.802C>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693941	0.88735	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.30182	1.54;1.54;1.54	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.991	D;D;D	0.97110	1.0;0.999;0.988	T	0.64719	-0.6341	10	0.72032	D	0.01	.	18.3146	0.90215	0.0:1.0:0.0:0.0	.	268;268;268	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	Y	268	ENSP00000285681:H268Y;ENSP00000285679:H268Y;ENSP00000383044:H268Y	ENSP00000285679:H268Y	H	+	1	0	USP25	16103020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.442000	0.80503	2.380000	0.81148	0.591000	0.81541	CAC		0.348	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			30	151	0	0	0	1	0	30	151					T	17181149	C	T	17181149	3	4	79	1	0	0	0	0	1	0	0	0	17110	478	17	2	832	2	USP25	21	17181149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	841450	17181149	30948746	20517	30834											
USP25	29761	broad.mit.edu	37	chr21	17181187	17181187	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagaagatgccttccaaatGaaagctgaagaggagacgta	11	6	0	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181187G>A	ENST00000285679.6	+	8	1209	c.840G>A	c.(838-840)atG>atA	p.M280I	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.M280I|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.M280I	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	280	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)		CCTTCCAAATGAAAGCTGAAG	0.343																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(838-840)atG>atA		ubiquitin specific peptidase 25							74	71	72					21																	17181187		2203	4299	6502	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17181187G>A	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.840G>A	21.37:g.17181187G>A	ENSP00000285679:p.Met280Ile					USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.M280I|USP25_ENST00000400183.2_Missense_Mutation_p.M280I|USP25_ENST00000547201.1_3'UTR	p.M280I			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	8	1209	+			280					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.840G>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903517	0.17760	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.29917	1.55;1.55;1.55	4.83	3.87	0.44632	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.257684	0.45126	D	0.000399	T	0.07369	0.0186	N	0.00656	-1.285	0.32912	D	0.514673	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.13335	-1.0513	10	0.22109	T	0.4	.	3.0751	0.06243	0.085:0.242:0.4095:0.2635	.	280;280;280	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	I	280	ENSP00000285681:M280I;ENSP00000285679:M280I;ENSP00000383044:M280I	ENSP00000285679:M280I	M	+	3	0	USP25	16103058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.166000	0.42406	2.380000	0.81148	0.591000	0.81541	ATG		0.343	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			27	159	0	0	0	1	0	27	159					A	17181187	G	A	17181187	3	1	79	1	0	0	0	0	1	0	0	0	17110	1290	45	2	870	2	USP25	21	17181187	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38	17181187	30948708	20518	30835											
BTG3	10950	broad.mit.edu	37	chr21	18981409	18981409	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttcaacttatcatgTtttcgaactagccttgtgaa	5	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:18981409T>C	ENST00000348354.6	-	2	310	c.54A>G	c.(52-54)aaA>aaG	p.K18K	BTG3_ENST00000339775.6_Silent_p.K18K|BTG3_ENST00000464058.1_5'UTR	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	18					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)		ACTTATCATGTTTTCGAACTA	0.323																																						ENST00000339775.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8						c.(52-54)aaA>aaG		BTG family, member 3							92	91	91					21																	18981409		2203	4299	6502	SO:0001819	synonymous_variant	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18981409T>C	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.54A>G	21.37:g.18981409T>C						BTG3_ENST00000464058.1_5'UTR|BTG3_ENST00000348354.6_Silent_p.K18K	p.K18K	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	2	207	-			18					D3DSC4|Q53XV1|Q96ET7	Silent	SNP	ENST00000348354.6	37	c.54A>G	CCDS13569.1																																																																																				0.323	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		73	341	0	0	0	1	0	73	341					C	18981409	T	C	18981409	2	2	79	1	0	0	0	0	0	0	0	1	1559	1722	60	4		4	BTG3	21	18981409	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1800222	18981409	29148486	20519	30836											
C21orf91	54149	broad.mit.edu	37	chr21	19169392	19169392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaaagcagtctttatgGccccttaatgatttggtgtg	9	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19169392G>A	ENST00000400558.3	-	3	261	c.171C>T	c.(169-171)ggC>ggT	p.G57G	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.G57G|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000284881.4_Silent_p.G57G	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGTCTTTATGGCCCCTTAATG	0.338																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(169-171)ggC>ggT		chromosome 21 open reading frame 91							74	70	71					21																	19169392		1823	4069	5892	SO:0001819	synonymous_variant	54149							g.chr21:19169392G>A	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"cold sore susceptibility gene 1", "early undifferentiated retina and lens"		"chromosome 21 open reading frame 38"	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.171C>T	21.37:g.19169392G>A						C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Silent_p.G57G|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400558.3_Silent_p.G57G	p.G57G	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	3	261	-			57						Silent	SNP	ENST00000400558.3	37	c.171C>T	CCDS42909.1																																																																																				0.338	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		54	312	0	0	0	1	0	54	312					A	19169392	G	A	19169392	2	1	79	1	0	0	0	0	0	0	0	1	2141	1190	42	2		2	C21orf91	21	19169392	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	187983	19169392	28960503	20520	30837											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642312	19642312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagaaaactttgtatccattCggtaaaccttgagaccctgg	8	9	0	2	rs146494364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642312C>T	ENST00000284885.3	-	25	3067	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1012	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGTATCCATTCGGTAAACCTT	0.423																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(3034-3036)Gaa>Aaa		transmembrane protease, serine 15		C	LYS/GLU	0,4406		0,0,2203	104	96	98		3034	2.6	1	21	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMPRSS15	NM_002772.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1012/1020	19642312	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19642312C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.3034G>A	21.37:g.19642312C>T	ENSP00000284885:p.Glu1012Lys						p.E1012K	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			25	3067	-			1012			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.3034G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902014	0.33535	0.0	1.16E-4	ENSG00000154646	ENST00000284885	D	0.93019	-3.15	5.69	2.62	0.31277	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.385045	0.28062	N	0.016744	D	0.82595	0.5071	N	0.12887	0.27	0.33889	D	0.637124	B	0.12013	0.005	B	0.08055	0.003	T	0.77523	-0.2556	9	.	.	.	.	6.8671	0.24100	0.0:0.5801:0.2755:0.1444	.	1012	P98073	ENTK_HUMAN	K	1012	ENSP00000284885:E1012K	.	E	-	1	0	TMPRSS15	18564183	0.789000	0.28775	1.000000	0.80357	0.696000	0.40369	0.918000	0.28678	1.361000	0.45981	0.655000	0.94253	GAA		0.423	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		54	248	0	0	0	1	0	54	248					T	19642312	C	T	19642312	3	4	79	1	0	0	0	0	1	0	0	0	16298	893	31	1	29	1	TMPRSS15	21	19642312	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	472920	19642312	28487583	20521	30838											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642342	19642342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaccctggcatacactcCggggcgattaggcagggcac	14	12	0	1	rs144640412		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642342C>T	ENST00000284885.3	-	25	3037	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1002	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCATACACTCCGGGGCGATTA	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		11769	0.0		0.001	False		,,,				2504	0.0					ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(3004-3006)Gga>Aga		transmembrane protease, serine 15		C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	130	117	122		3004	4.2	1	21	dbSNP_134	122	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMPRSS15	NM_002772.2	125	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	probably-damaging	1002/1020	19642342	4,13002	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19642342C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.3004G>A	21.37:g.19642342C>T	ENSP00000284885:p.Gly1002Arg						p.G1002R	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			25	3037	-			1002			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.3004G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088709	0.55968	4.54E-4	2.33E-4	ENSG00000154646	ENST00000284885	D	0.91180	-2.8	5.99	4.19	0.49359	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	H	0.96430	3.82	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.96634	0.9469	9	.	.	.	.	12.0887	0.53713	0.0:0.8633:0.0:0.1367	.	1002	P98073	ENTK_HUMAN	R	1002	ENSP00000284885:G1002R	.	G	-	1	0	TMPRSS15	18564213	1.000000	0.71417	0.960000	0.40013	0.151000	0.21798	4.990000	0.63876	0.878000	0.35920	0.655000	0.94253	GGA		0.453	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		77	321	0	0	0	1	0	77	321					T	19642342	C	T	19642342	3	4	79	1	0	0	0	0	1	0	0	0	16298	661	23	1	59	1	TMPRSS15	21	19642342	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	19642342	28487553	20522	30839											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666603	19666603	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacccatacacgcagtgtgCggcggacaccagccagtcac	10	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19666603C>T	ENST00000284885.3	-	21	2503	c.2470G>A	c.(2470-2472)Gca>Aca	p.A824T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	824	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGCAGTGTGCGGCGGACACC	0.582																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2470-2472)Gca>Aca		transmembrane protease, serine 15							59	59	59					21																	19666603		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666603C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2470G>A	21.37:g.19666603C>T	ENSP00000284885:p.Ala824Thr						p.A824T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2503	-			824			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2470G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207194	0.95033	.	.	ENSG00000154646	ENST00000284885	D	0.96940	-4.18	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99529	1.0960	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	824	P98073	ENTK_HUMAN	T	824	ENSP00000284885:A824T	.	A	-	1	0	TMPRSS15	18588474	1.000000	0.71417	0.957000	0.39632	0.964000	0.63967	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCA		0.582	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		60	331	0	0	0	1	0	60	331					T	19666603	C	T	19666603	3	4	79	1	0	0	0	0	1	0	0	0	16298	768	27	1	609	1	TMPRSS15	21	19666603	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24261	19666603	28463292	20523	30840											
TMPRSS15	5651	broad.mit.edu	37	chr21	19755999	19755999	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccagttggctggatttAtttgcttcaaggccttgaat	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19755999A>G	ENST00000284885.3	-	4	474	c.441T>C	c.(439-441)aaT>aaC	p.N147N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	147	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTGGATTTATTTGCTTCAA	0.368																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(439-441)aaT>aaC		transmembrane protease, serine 15							132	116	122					21																	19755999		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19755999A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.441T>C	21.37:g.19755999A>G							p.N147N	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			4	474	-			147			SEA.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.441T>C	CCDS13571.1																																																																																				0.368	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		14	222	0	0	0	1	0	14	222					G	19755999	A	G	19755999	2	3	79	1	0	0	0	0	0	0	0	1	16298	446	16	4		4	TMPRSS15	21	19755999	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	89396	19755999	28373896	20524	30841											
NCAM2	4685	broad.mit.edu	37	chr21	22658710	22658710	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggttgtatcataatgaGgaagtcaccactatttccga	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22658710G>A	ENST00000400546.1	+	4	708	c.459G>A	c.(457-459)gaG>gaA	p.E153E	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Silent_p.E178E|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	153	Ig-like C2-type 2.				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)		ATCATAATGAGGAAGTCACCA	0.388																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(457-459)gaG>gaA		neural cell adhesion molecule 2							129	121	124					21																	22658710		2004	4172	6176	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22658710G>A		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.459G>A	21.37:g.22658710G>A						NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Silent_p.E178E|NCAM2_ENST00000486367.1_3'UTR	p.E153E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	4	708	+		Lung NSC(9;0.195)	153			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.459G>A	CCDS42910.1																																																																																				0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		42	237	0	0	0	1	0	42	237					A	22658710	G	A	22658710	2	1	79	1	0	0	0	0	0	0	0	1	10245	991	35	2		2	NCAM2	21	22658710	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2902711	22658710	25471185	20525	30842											
NCAM2	4685	broad.mit.edu	37	chr21	22664525	22664525	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagagtggaggccaggggaGaaattgacttccgtgatatc	15	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22664525G>T	ENST00000400546.1	+	5	832	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*|NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	195	Ig-like C2-type 2.				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)		GGCCAGGGGAGAAATTGACTT	0.338																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(583-585)Gaa>Taa		neural cell adhesion molecule 2							166	164	165					21																	22664525		1843	4092	5935	SO:0001587	stop_gained	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22664525G>T		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.583G>T	21.37:g.22664525G>T	ENSP00000383392:p.Glu195*					NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E53*|NCAM2_ENST00000535285.1_Nonsense_Mutation_p.E220*	p.E195*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	5	832	+		Lung NSC(9;0.195)	195			Ig-like C2-type 2.		A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	37	c.583G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876320	0.97904	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-29.6042	18.2691	0.90062	0.0:0.0:1.0:0.0	.	.	.	.	X	195;53;220	.	ENSP00000284894:E53X	E	+	1	0	NCAM2	21586396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.733000	0.93635	0.655000	0.94253	GAA		0.338	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		39	264	1	0	2.05212e-20	1	2.2997e-20	39	264					T	22664525	G	T	22664525	4	4	79	1	0	0	0	0	0	1	0	0	10245	943	33	3	601	3	NCAM2	21	22664525	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5815	22664525	25465370	20526	30843											
NCAM2	4685	broad.mit.edu	37	chr21	22746295	22746295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagctgcaagcagaaTtggagggcatcaaaagagca	13	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22746295T>G	ENST00000400546.1	+	9	1406	c.1157T>G	c.(1156-1158)aTt>aGt	p.I386S	NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S|NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	386	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAAGCAGAATTGGAGGGCAT	0.368																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1156-1158)aTt>aGt		neural cell adhesion molecule 2							174	166	168					21																	22746295		1907	4137	6044	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22746295T>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1157T>G	21.37:g.22746295T>G	ENSP00000383392:p.Ile386Ser					NCAM2_ENST00000284894.7_Missense_Mutation_p.I244S|NCAM2_ENST00000535285.1_Missense_Mutation_p.I411S	p.I386S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	9	1406	+		Lung NSC(9;0.195)	386			Ig-like C2-type 4.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1157T>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594621	0.86953	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.66638	-0.22;-0.22;-0.22	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.984	T	0.76645	-0.2883	10	0.54805	T	0.06	-19.527	14.5628	0.68153	0.0:0.0:0.0:1.0	.	411;244;386	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	386;244;411	ENSP00000383392:I386S;ENSP00000284894:I244S;ENSP00000441887:I411S	ENSP00000284894:I244S	I	+	2	0	NCAM2	21668166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.496000	0.81526	2.116000	0.64780	0.524000	0.50904	ATT		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		61	380	0	0	0	1	0	61	380					G	22746295	T	G	22746295	3	3	79	1	0	0	0	0	1	0	0	0	10245	1493	52	4	1191	4	NCAM2	21	22746295	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	81770	22746295	25383600	20527	30844											
NCAM2	4685	broad.mit.edu	37	chr21	22804437	22804437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtccatagacgtgccatCcagtccctatggagtgaaga	10	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22804437C>T	ENST00000400546.1	+	12	1739	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	497					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)		GACGTGCCATCCAGTCCCTAT	0.443																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1489-1491)tCc>tTc		neural cell adhesion molecule 2							62	59	60					21																	22804437		1924	4136	6060	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22804437C>T		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.1490C>T	21.37:g.22804437C>T	ENSP00000383392:p.Ser497Phe					NCAM2_ENST00000284894.7_Missense_Mutation_p.S355F	p.S497F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	12	1739	+		Lung NSC(9;0.195)	497			Fibronectin type-III 1.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1490C>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959169	0.74016	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.58797	0.31;0.31	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.85261	0.1050	10	0.87932	D	0	-10.8145	16.9239	0.86170	0.0:1.0:0.0:0.0	.	355;497	B7Z5K2;O15394	.;NCAM2_HUMAN	F	497;355	ENSP00000383392:S497F;ENSP00000284894:S355F	ENSP00000284894:S355F	S	+	2	0	NCAM2	21726308	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	6.249000	0.72427	2.328000	0.79073	0.505000	0.49811	TCC		0.443	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		35	200	0	0	0	1	0	35	200					T	22804437	C	T	22804437	3	4	79	1	0	0	0	0	1	0	0	0	10245	855	30	2	1536	2	NCAM2	21	22804437	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58142	22804437	25325458	20528	30845											
NCAM2	4685	broad.mit.edu	37	chr21	22840987	22840987	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattgtatatctaggtgaAccaagtcctccatccataca	6	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22840987A>G	ENST00000400546.1	+	14	2028	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	NCAM2_ENST00000284894.7_Silent_p.E451E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	593	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ATCTAGGTGAACCAAGTCCTC	0.363																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1777-1779)gaA>gaG		neural cell adhesion molecule 2							94	87	89					21																	22840987		1881	4105	5986	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22840987A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1779A>G	21.37:g.22840987A>G						NCAM2_ENST00000284894.7_Silent_p.E451E	p.E593E	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	14	2028	+		Lung NSC(9;0.195)	593			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1779A>G	CCDS42910.1																																																																																				0.363	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		32	243	0	0	0	1	0	32	243					G	22840987	A	G	22840987	2	3	79	1	0	0	0	0	0	0	0	1	10245	40	2	4		4	NCAM2	21	22840987	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36550	22840987	25288908	20529	30846											
NCAM2	4685	broad.mit.edu	37	chr21	22849623	22849623	+	Missense_Mutation	SNP	A	A	C													ctttcacagaaagataaggaAgaccaatggctagagaaaaa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849623A>C	ENST00000400546.1	+	15	2157	c.1908A>C	c.(1906-1908)gaA>gaC	p.E636D	NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	636	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		AAGATAAGGAAGACCAATGGC	0.348																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1906-1908)gaA>gaC		neural cell adhesion molecule 2							84	78	80					21																	22849623		1830	4090	5920	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849623A>C		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.1908A>C	21.37:g.22849623A>C	ENSP00000383392:p.Glu636Asp					NCAM2_ENST00000284894.7_Missense_Mutation_p.E494D	p.E636D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2157	+		Lung NSC(9;0.195)	636			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1908A>C	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742087	0.69418	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.59224	0.28;0.28	5.8	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.50333	1.59	0.80722	D	1	P;P	0.50617	0.937;0.937	D;D	0.72982	0.979;0.979	T	0.66432	-0.5925	10	0.42905	T	0.14	-31.9442	10.259	0.43414	0.9222:0.0:0.0778:0.0	.	494;636	B7Z5K2;O15394	.;NCAM2_HUMAN	D	636;494	ENSP00000383392:E636D;ENSP00000284894:E494D	ENSP00000284894:E494D	E	+	3	2	NCAM2	21771494	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.295000	0.65692	2.213000	0.71641	0.528000	0.53228	GAA		0.348	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		39	230	0	0	0	1	0	39	230					C	22849623	A	C	22849623	3	2	79	1	0	0	0	0	1	0	0	0	10245	69	3	4	1966	4	NCAM2	21	22849623	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8636	22849623	25280272	20530	30847	200	2									
NCAM2	4685	broad.mit.edu	37	chr21	22849626	22849626	+	Silent	SNP	C	C	T													tcacagaaagataaggaagaCcaatggctagagaaaaaagt							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849626C>T	ENST00000400546.1	+	15	2160	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	NCAM2_ENST00000284894.7_Silent_p.D495D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	637	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		ATAAGGAAGACCAATGGCTAG	0.348																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1909-1911)gaC>gaT		neural cell adhesion molecule 2							84	79	81					21																	22849626		1832	4092	5924	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849626C>T		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.1911C>T	21.37:g.22849626C>T						NCAM2_ENST00000284894.7_Silent_p.D495D	p.D637D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2160	+		Lung NSC(9;0.195)	637			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.1911C>T	CCDS42910.1																																																																																				0.348	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		57	219	0	0	0	1	0	57	219					T	22849626	C	T	22849626	2	4	79	1	0	0	0	0	0	0	0	1	10245	506	18	2		2	NCAM2	21	22849626	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3	22849626	25280269	20531	30848	200	2									
MRPL39	54148	broad.mit.edu	37	chr21	26960040	26960040	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgttccatggaggaggtacGactcaggcgaggtagtgaag	16	7	1	1	rs374029650		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:26960040G>A	ENST00000352957.4	-	9	1011				MRPL39_ENST00000307301.7_Missense_Mutation_p.S344L	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39							mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						GAGGAGGTACGACTCAGGCGA	0.353																																						ENST00000307301.7																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						c.(1030-1032)tCg>tTg		mitochondrial ribosomal protein L39		G	,LEU/SER	0,4406		0,0,2203	79	77	78		,1031	1.5	0	21		78	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	MRPL39	NM_017446.3,NM_080794.3	,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,344/354	26960040	1,13005	2203	4300	6503	SO:0001627	intron_variant	54148					mitochondrial ribosome	nucleotide binding	g.chr21:26960040G>A	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"Mitochondrial ribosomal proteins / large subunits"	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.969+1106C>T	21.37:g.26960040G>A						MRPL39_ENST00000352957.4_Intron	p.S344L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN			10	1072	-			0					C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	c.1031C>T	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042082	0.35989	0.0	1.16E-4	ENSG00000154719	ENST00000307301	T	0.46451	0.87	2.53	1.55	0.23275	.	2.513340	0.01242	N	0.008659	T	0.14874	0.0359	.	.	.	0.09310	N	1	B	0.34181	0.44	B	0.19666	0.026	T	0.32877	-0.9890	9	0.02654	T	1	-1.1759	3.5033	0.07681	0.2908:0.0:0.7092:0.0	.	344	Q9NYK5-2	.	L	344	ENSP00000305682:S344L	ENSP00000305682:S344L	S	-	2	0	MRPL39	25881911	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.311000	0.19380	0.549000	0.28973	0.655000	0.94253	TCG		0.353	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446		5	178	0	0	0	1	0	5	178					A	26960040	G	A	26960040	1	1	79	0	1	0	0	0	0	0	0	0	9843	1059	37	1		1	MRPL39	21	26960040	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4110414	26960040	21169855	20532	30849											
JAM2	58494	broad.mit.edu	37	chr21	27066137	27066137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtgacaagaagtgatgCggggaaatatcgttgtgaag	14	3	0	4	rs369585750	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27066137C>T	ENST00000480456.1	+	4	861	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_ENST00000312957.5_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V|JAM2_ENST00000400532.1_Missense_Mutation_p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	104	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A104V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20332	0.001		0.0	False		,,,				2504	0.0					ENST00000480456.1																			1	Substitution - Missense(1)	p.A104V(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(310-312)gCg>gTg		junctional adhesion molecule 2		C	VAL/ALA	3,3919		0,3,1958	167	168	167		311	5.6	1	21		167	0,8280		0,0,4140	no	missense	JAM2	NM_021219.2	64	0,3,6098	TT,TC,CC		0.0,0.0765,0.0246	probably-damaging	104/299	27066137	3,12199	1961	4140	6101	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27066137C>T	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.311C>T	21.37:g.27066137C>T	ENSP00000420419:p.Ala104Val					JAM2_ENST00000312957.5_Missense_Mutation_p.A104V|JAM2_ENST00000400532.1_Missense_Mutation_p.A104V|JAM2_ENST00000425221.2_Missense_Mutation_p.A68V	p.A104V	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			4	861	+			104			Ig-like V-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.311C>T	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683903	0.88639	7.65E-4	0.0	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165192	0.53938	D	0.000058	T	0.77837	0.4190	L	0.50333	1.59	0.42849	D	0.994071	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.79784	0.98;0.993;0.993;0.949;0.989	T	0.77560	-0.2542	10	0.54805	T	0.06	.	16.5363	0.84373	0.0:1.0:0.0:0.0	.	68;104;104;104;104	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	V	104;104;104;104;104;68	ENSP00000420419:A104V;ENSP00000383376:A104V;ENSP00000318416:A104V;ENSP00000392611:A68V	ENSP00000318416:A104V	A	+	2	0	JAM2	25988008	0.997000	0.39634	0.997000	0.53966	0.910000	0.53928	4.433000	0.59929	2.890000	0.99128	0.655000	0.94253	GCG		0.388	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			81	363	0	0	0	1	0	81	363					T	27066137	C	T	27066137	3	4	79	1	0	0	0	0	1	0	0	0	7973	768	27	1	325	1	JAM2	21	27066137	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106097	27066137	21063758	20533	30850											
JAM2	58494	broad.mit.edu	37	chr21	27071173	27071173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aacagctcatacacaatgaaTacaaaaactggaactctggt	6	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27071173T>C	ENST00000480456.1	+	5	1129	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_ENST00000312957.5_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N|JAM2_ENST00000400532.1_Silent_p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	193	Ig-like C2-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACACAATGAATACAAAAACTG	0.373																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(577-579)aaT>aaC		junctional adhesion molecule 2							110	102	104					21																	27071173		1878	4104	5982	SO:0001819	synonymous_variant	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27071173T>C	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.579T>C	21.37:g.27071173T>C						JAM2_ENST00000312957.5_Silent_p.N193N|JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N	p.N193N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			5	1129	+			193			Ig-like C2-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	ENST00000480456.1	37	c.579T>C	CCDS42911.1																																																																																				0.373	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			92	404	0	0	0	1	0	92	404					C	27071173	T	C	27071173	2	2	79	1	0	0	0	0	0	0	0	1	7973	1403	49	4		4	JAM2	21	27071173	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	5036	27071173	21058722	20534	30851											
ATP5J	2551	broad.mit.edu	37	chr21	27107264	27107264	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctacccgccatcgcaatgCattatgggccgccgtttcag	10	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27107264C>T	ENST00000354828.3	+	0	384				ATP5J_ENST00000400093.3_Intron|ATP5J_ENST00000400099.1_Intron|ATP5J_ENST00000400087.3_Intron|ATP5J_ENST00000457143.2_Start_Codon_SNP_p.M1I|ATP5J_ENST00000400094.1_5'Flank|ATP5J_ENST00000284971.3_5'UTR|GABPA_ENST00000400075.3_5'Flank|ATP5J_ENST00000400090.3_Intron	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa						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						CATCGCAATGCATTATGGGCC	0.647																																						ENST00000457143.2																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						c.(1-3)atG>atA		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6							15	20	19					21																	27107264		1968	4154	6122	SO:0001623	5_prime_UTR_variant	522				ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity	g.chr21:27107264C>T		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.-144C>T	21.37:g.27107264C>T						ATP5J_ENST00000400099.1_Intron|GABPA_ENST00000354828.3_5'UTR|ATP5J_ENST00000400090.3_Intron|ATP5J_ENST00000400087.3_Intron|ATP5J_ENST00000400093.3_Intron|ATP5J_ENST00000284971.3_5'UTR	p.M1I			P18859	ATP5J_HUMAN			1	80	-			0					Q12939	Translation_Start_Site	SNP	ENST00000354828.3	37	c.3G>A	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954929	0.53293	.	.	ENSG00000154723	ENST00000457143	.	.	.	4.71	3.82	0.43975	.	.	.	.	.	T	0.71126	0.3303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74447	-0.3662	5	0.87932	D;D	0;0	.	11.2098	0.48790	0.0:0.8155:0.1845:0.0	.	.	.	.	I	1	.	ENSP00000389649:M1I;ENSP00000389649:M1I	M	-	3	0	ATP5J	26029135	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	1.863000	0.39459	1.332000	0.45431	0.655000	0.94253	ATG		0.647	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		5	20	0	0	0	1	0	5	20					T	27107264	C	T	27107264	1	4	79	0	1	0	0	0	0	0	0	0	1159	710	25	2		2	ATP5J	21	27107264	5'UTR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36091	27107264	21022631	20535	30852											
GABPA	2551	broad.mit.edu	37	chr21	27136617	27136617	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagtacaaagagcgcCgaggatttcaggagaagata	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27136617C>T	ENST00000354828.3	+	8	1426	c.899C>T	c.(898-900)cCg>cTg	p.P300L	GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	300					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						CAAAGAGCGCCGAGGATTTCA	0.358																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(898-900)cCg>cTg		GA binding protein transcription factor, alpha subunit 60kDa							61	64	63					21																	27136617		2203	4297	6500	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27136617C>T		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.899C>T	21.37:g.27136617C>T	ENSP00000346886:p.Pro300Leu					GABPA_ENST00000400075.3_Missense_Mutation_p.P300L	p.P300L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			8	1426	+			300					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.899C>T	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344595	0.61073	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.13657	2.57;2.57	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.085290	0.50627	D	0.000119	T	0.09423	0.0232	L	0.27053	0.805	0.80722	D	1	P	0.51351	0.944	B	0.35353	0.201	T	0.29181	-1.0020	10	0.25106	T	0.35	.	17.7202	0.88349	0.0:1.0:0.0:0.0	.	300	Q06546	GABPA_HUMAN	L	300	ENSP00000346886:P300L;ENSP00000382948:P300L	ENSP00000346886:P300L	P	+	2	0	GABPA	26058488	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.331000	0.65905	2.586000	0.87340	0.591000	0.81541	CCG		0.358	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		63	301	0	0	0	1	0	63	301					T	27136617	C	T	27136617	3	4	79	1	0	0	0	0	1	0	0	0	6184	652	23	1	925	1	GABPA	21	27136617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29353	27136617	20993278	20536	30853											
GABPA	2551	broad.mit.edu	37	chr21	27141374	27141374	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caagagatttgtgtacaagtTtgtctgtgacttgaagactc	10	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27141374T>G	ENST00000354828.3	+	10	1723	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	399					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						GTGTACAAGTTTGTCTGTGAC	0.363																																						ENST00000354828.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						c.(1195-1197)tTt>tGt		GA binding protein transcription factor, alpha subunit 60kDa							103	108	107					21																	27141374		2203	4300	6503	SO:0001583	missense	2551				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr21:27141374T>G		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.1196T>G	21.37:g.27141374T>G	ENSP00000346886:p.Phe399Cys					GABPA_ENST00000400075.3_Missense_Mutation_p.F399C	p.F399C	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN			10	1723	+			399					Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	c.1196T>G	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846514	0.71603	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.36699	1.24;1.24	5.87	5.87	0.94306	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.046101	0.85682	D	0.000000	T	0.73458	0.3589	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83257	-0.0050	10	0.87932	D	0	.	15.9351	0.79698	0.0:0.0:0.0:1.0	.	399	Q06546	GABPA_HUMAN	C	399	ENSP00000346886:F399C;ENSP00000382948:F399C	ENSP00000346886:F399C	F	+	2	0	GABPA	26063245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.649000	0.83500	2.247000	0.74100	0.477000	0.44152	TTT		0.363	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040		167	714	0	0	0	1	0	167	714					G	27141374	T	G	27141374	3	3	79	1	0	0	0	0	1	0	0	0	6184	1841	64	4	1230	4	GABPA	21	27141374	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4757	27141374	20988521	20537	30854											
APP	351	broad.mit.edu	37	chr21	27354787	27354787	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtactggctgctgttgtaGgaactataaagtagaagaga	14	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27354787G>T	ENST00000346798.3	-	9	1127	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000358918.3_Missense_Mutation_p.P365H|APP_ENST00000359726.3_Missense_Mutation_p.P309H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000448388.2_Missense_Mutation_p.P255H	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	365					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)				TGCTGTTGTAGGAACTATAAA	0.418																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1093-1095)cCt>cAt		amyloid beta (A4) precursor protein							55	53	54					21																	27354787		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27354787G>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1094C>A	21.37:g.27354787G>T	ENSP00000284981:p.Pro365His					APP_ENST00000440126.3_Missense_Mutation_p.P341H|APP_ENST00000354192.3_Missense_Mutation_p.P234H|APP_ENST00000348990.5_Missense_Mutation_p.P290H|APP_ENST00000346798.3_Missense_Mutation_p.P365H|APP_ENST00000448388.2_Missense_Mutation_p.P255H|APP_ENST00000439274.2_Missense_Mutation_p.P309H|APP_ENST00000357903.3_Missense_Mutation_p.P346H|APP_ENST00000359726.3_Missense_Mutation_p.P309H	p.P365H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			9	1293	-		Breast(209;0.00295)	365					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.1094C>A	CCDS13576.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135759	0.77662	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274	D;T;T;D;D;D;T;D;D	0.96913	-2.24;0.94;0.94;-2.24;-2.07;-4.17;0.94;-2.24;-2.22	5.45	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.97353	0.9134	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.988;1.0;0.963;0.985;1.0	P;D;P;D;P;P;D	0.97110	0.797;1.0;0.866;0.997;0.694;0.694;0.999	D	0.96487	0.9361	10	0.18276	T	0.48	-8.6512	14.2738	0.66167	0.0719:0.0:0.9281:0.0	.	255;309;341;234;290;346;365	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	H	365;234;290;346;365;309;255;341;309	ENSP00000284981:P365H;ENSP00000346129:P234H;ENSP00000345463:P290H;ENSP00000350578:P346H;ENSP00000351796:P365H;ENSP00000352760:P309H;ENSP00000388538:P255H;ENSP00000387483:P341H;ENSP00000398879:P309H	ENSP00000284981:P365H	P	-	2	0	APP	26276658	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.263000	0.95617	1.540000	0.49301	0.655000	0.94253	CCT		0.418	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		46	212	1	0	8.48111e-28	1	9.83746e-28	46	212					T	27354787	G	T	27354787	3	4	79	1	0	0	0	0	1	0	0	0	815	1000	35	3	1258	3	APP	21	27354787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	213413	27354787	20775108	20538	30855											
APP	351	broad.mit.edu	37	chr21	27394204	27394204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtggtggtggCaatgctggtggttctctctg	20	5	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27394204C>T	ENST00000346798.3	-	6	850	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000358918.3_Missense_Mutation_p.A273T|APP_ENST00000359726.3_Missense_Mutation_p.A273T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000448388.2_Missense_Mutation_p.A238T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	273					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)				gtggtggtggcaatgctggtg	0.537																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(817-819)Gcc>Acc		amyloid beta (A4) precursor protein							230	156	181					21																	27394204		2203	4300	6503	SO:0001583	missense	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394204C>T	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.817G>A	21.37:g.27394204C>T	ENSP00000284981:p.Ala273Thr					APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Missense_Mutation_p.A268T|APP_ENST00000354192.3_Missense_Mutation_p.A217T|APP_ENST00000348990.5_Missense_Mutation_p.A273T|APP_ENST00000346798.3_Missense_Mutation_p.A273T|APP_ENST00000448388.2_Missense_Mutation_p.A238T|APP_ENST00000439274.2_Missense_Mutation_p.A217T|APP_ENST00000357903.3_Missense_Mutation_p.A273T|APP_ENST00000359726.3_Missense_Mutation_p.A273T	p.A273T	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1016	-		Breast(209;0.00295)	273					B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	ENST00000346798.3	37	c.817G>A	CCDS13576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.12|15.12	2.740328|2.740328	0.49045|0.49045	.|.	.|.	ENSG00000142192|ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274|ENST00000448850;ENST00000415997	T;D;D;T;T;D;D;T;T|.	0.96300|.	1.89;-3.95;-3.95;1.89;1.89;-3.97;-3.95;1.89;1.89|.	3.62|3.62	3.62|3.62	0.41486|0.41486	.|.	0.304797|.	0.34411|.	N|.	0.003993|.	T|T	0.39118|0.39118	0.1066|0.1066	N|N	0.14661|0.14661	0.345|0.345	0.35957|0.35957	D|D	0.834349|0.834349	D;P;P;P;P;P;P;P|.	0.67145|.	0.996;0.805;0.805;0.805;0.877;0.877;0.877;0.805|.	D;P;P;P;P;P;P;P|.	0.73708|.	0.981;0.483;0.483;0.483;0.682;0.682;0.682;0.483|.	T|T	0.43212|0.43212	-0.9405|-0.9405	10|5	0.30854|.	T|.	0.27|.	-13.2249|-13.2249	11.092|11.092	0.48121|0.48121	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;238;217;268;217;273;273;273|.	P05067-2;E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067|.	.;.;.;.;.;.;.;A4_HUMAN|.	T|Y	273;217;273;273;273;273;238;268;217|194;63	ENSP00000284981:A273T;ENSP00000346129:A217T;ENSP00000345463:A273T;ENSP00000350578:A273T;ENSP00000351796:A273T;ENSP00000352760:A273T;ENSP00000388538:A238T;ENSP00000387483:A268T;ENSP00000398879:A217T|.	ENSP00000284981:A273T|.	A|C	-|-	1|2	0|0	APP|APP	26316075|26316075	0.979000|0.979000	0.34478|0.34478	0.994000|0.994000	0.49952|0.49952	0.975000|0.975000	0.68041|0.68041	3.226000|3.226000	0.51254|0.51254	2.319000|2.319000	0.78375|0.78375	0.563000|0.563000	0.77884|0.77884	GCC|TGC		0.537	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		23	133	0	0	0	1	0	23	133					T	27394204	C	T	27394204	3	4	79	1	0	0	0	0	1	0	0	0	815	710	25	2	1547	2	APP	21	27394204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39417	27394204	20735691	20539	30856											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210028	28210028	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttttgtaacccttcCcacaggtcttagaacatgat	5	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	ENST00000284984.3	-	9	3228	c.2774G>A	c.(2773-2775)gGg>gAg	p.G925E		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	925	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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)		GTAACCCTTCCCACAGGTCTT	0.488																																						ENST00000284984.2																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(2773-2775)gGg>gAg		ADAM metallopeptidase with thrombospondin type 1 motif, 1							110	115	113					21																	28210028		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28210028C>T	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.2774G>A	21.37:g.28210028C>T	ENSP00000284984:p.Gly925Glu						p.G925E	NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	9	3228	-		Breast(209;0.000962)	925			TSP type-1 3.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.2774G>A	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630108	0.87660	.	.	ENSG00000154734	ENST00000284984	T	0.70516	-0.49	5.52	4.62	0.57501	.	.	.	.	.	D	0.85150	0.5631	M	0.91663	3.23	0.80722	D	1	P	0.50066	0.931	P	0.60345	0.873	D	0.86873	0.2037	9	0.52906	T	0.07	.	14.8111	0.69996	0.0:0.9302:0.0:0.0698	.	925	Q9UHI8	ATS1_HUMAN	E	925	ENSP00000284984:G925E	ENSP00000284984:G925E	G	-	2	0	ADAMTS1	27131899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.615000	0.67702	2.873000	0.98535	0.563000	0.77884	GGG		0.488	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			117	511	0	0	0	1	0	117	511					T	28210028	C	T	28210028	3	4	79	1	0	0	0	0	1	0	0	0	255	623	22	2	133	2	ADAMTS1	21	28210028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	815824	28210028	19919867	20540	30857											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296425	28296425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaggcctttgggagagagGacatccttttgctaacttcc	11	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28296425G>T	ENST00000284987.5	-	8	2861	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	914	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGGAGAGAGGACATCCTTTT	0.507																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2740-2742)Cct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 5							93	76	82					21																	28296425		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28296425G>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2740C>A	21.37:g.28296425G>T	ENSP00000284987:p.Pro914Thr					AP001601.2_ENST00000426771.1_RNA	p.P914T	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			8	2861	-			914			TSP type-1 2.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2740C>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	5.509	0.278957	0.10458	.	.	ENSG00000154736	ENST00000284987	T	0.50277	0.75	6.07	5.18	0.71444	.	0.419349	0.27846	N	0.017613	T	0.31104	0.0786	N	0.08118	0	0.22684	N	0.998853	B	0.02656	0.0	B	0.06405	0.002	T	0.15838	-1.0423	10	0.37606	T	0.19	.	16.9877	0.86345	0.0:0.0:0.8717:0.1282	.	914	Q9UNA0	ATS5_HUMAN	T	914	ENSP00000284987:P914T	ENSP00000284987:P914T	P	-	1	0	ADAMTS5	27218296	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.614000	0.46359	1.551000	0.49450	0.655000	0.94253	CCT		0.507	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			66	251	1	0	5.89852e-23	1	6.69324e-23	66	251					T	28296425	G	T	28296425	3	4	79	1	0	0	0	0	1	0	0	0	269	1174	41	3	56	3	ADAMTS5	21	28296425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86397	28296425	19833470	20541	30858											
ADAMTS5	11096	broad.mit.edu	37	chr21	28302267	28302267	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctccacatactccGcacttgtcatactgcagctt	5	15	2	0	rs201435455		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28302267G>A	ENST00000284987.5	-	7	2284	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	721	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATACTCCGCACTTGTCAT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		18598	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(2161-2163)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 5		G		0,4406		0,0,2203	211	188	196		2163	-3.7	0.8	21		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS5	NM_007038.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		721/931	28302267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302267G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2163C>T	21.37:g.28302267G>A						AP001601.2_ENST00000426771.1_RNA	p.C721C	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			7	2284	-			721			Cys-rich.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.2163C>T	CCDS13579.1																																																																																				0.443	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			155	589	0	0	0	1	0	155	589					A	28302267	G	A	28302267	2	1	79	1	0	0	0	0	0	0	0	1	269	1079	38	1		1	ADAMTS5	21	28302267	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5842	28302267	19827628	20542	30859											
RNF160	26046	broad.mit.edu	37	chr21	30338786	30338786	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaggaaaccaaaatccTtcctttgatcttcatttagc	4	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30338786T>G	ENST00000361371.5	-	10	2106	c.2027A>C	c.(2026-2028)aAg>aCg	p.K676T	LTN1_ENST00000389194.2_Missense_Mutation_p.K722T|LTN1_ENST00000389195.2_Missense_Mutation_p.K722T			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	676					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						ACCAAAATCCTTCCTTTGATC	0.398																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(2026-2028)aAg>aCg		listerin E3 ubiquitin protein ligase 1							97	98	97					21																	30338786		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30338786T>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2027A>C	21.37:g.30338786T>G	ENSP00000354977:p.Lys676Thr					LTN1_ENST00000389195.2_Missense_Mutation_p.K722T|LTN1_ENST00000389194.2_Missense_Mutation_p.K722T	p.K676T	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	2177	-			676					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.2027A>C		.	.	.	.	.	.	.	.	.	.	T	10.24	1.296501	0.23650	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.64803	2.19;2.2;-0.12	5.13	5.13	0.70059	.	0.376195	0.30101	N	0.010405	T	0.46541	0.1398	N	0.14661	0.345	0.31171	N	0.703152	B	0.17465	0.022	B	0.10450	0.005	T	0.50355	-0.8838	10	0.39692	T	0.17	.	15.4	0.74830	0.0:0.0:0.0:1.0	.	676	O94822	LTN1_HUMAN	T	722;676;722	ENSP00000373846:K722T;ENSP00000354977:K676T;ENSP00000373847:K722T	ENSP00000354977:K676T	K	-	2	0	LTN1	29260657	0.996000	0.38824	0.364000	0.25888	0.791000	0.44710	2.304000	0.43655	2.281000	0.76405	0.528000	0.53228	AAG		0.398	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		77	370	0	0	0	1	0	77	370					G	30338786	T	G	30338786	3	3	79	1	0	0	0	0	1	0	0	0	13505	1609	56	4	3357	4	RNF160	21	30338786	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2036519	30338786	17791109	20543	30860											
RNF160	26046	broad.mit.edu	37	chr21	30359125	30359125	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatcagaatctacaagactgTcaatttcttcagctccttga	5	10	5	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30359125T>G	ENST00000361371.5	-	2	252	c.173A>C	c.(172-174)gAc>gCc	p.D58A	LTN1_ENST00000389194.2_Missense_Mutation_p.D104A|LTN1_ENST00000389195.2_Missense_Mutation_p.D104A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	58					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						TACAAGACTGTCAATTTCTTC	0.383																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(172-174)gAc>gCc		listerin E3 ubiquitin protein ligase 1							89	91	90					21																	30359125		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359125T>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.173A>C	21.37:g.30359125T>G	ENSP00000354977:p.Asp58Ala					LTN1_ENST00000389195.2_Missense_Mutation_p.D104A|LTN1_ENST00000389194.2_Missense_Mutation_p.D104A	p.D58A	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			2	323	-			58					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.173A>C		.	.	.	.	.	.	.	.	.	.	T	24.2	4.506445	0.85282	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.66099	2.06;2.06;-0.19	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76160	-0.3061	10	0.39692	T	0.17	.	14.5774	0.68258	0.0:0.0:0.0:1.0	.	58	O94822	LTN1_HUMAN	A	104;58;58;104	ENSP00000373846:D104A;ENSP00000354977:D58A;ENSP00000373847:D104A	ENSP00000354977:D58A	D	-	2	0	LTN1	29280996	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.461000	0.80834	2.034000	0.60081	0.459000	0.35465	GAC		0.383	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		71	319	0	0	0	1	0	71	319					G	30359125	T	G	30359125	3	3	79	1	0	0	0	0	1	0	0	0	13505	1667	58	4	5243	4	RNF160	21	30359125	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	20339	30359125	17770770	20544	30861											
USP16	10600	broad.mit.edu	37	chr21	30419159	30419159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcataaagaatattgtGtcaaccagaaagatttgaat	7	4	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419159G>A	ENST00000334352.4	+	15	1759	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000399976.2_Missense_Mutation_p.V510I|USP16_ENST00000535828.1_Missense_Mutation_p.V139I	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						AGAATATTGTGTCAACCAGAA	0.333																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1528-1530)Gtc>Atc		ubiquitin specific peptidase 16							70	68	69					21																	30419159		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419159G>A	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.1528G>A	21.37:g.30419159G>A	ENSP00000334808:p.Val510Ile					USP16_ENST00000535828.1_Missense_Mutation_p.V139I|USP16_ENST00000399975.3_Missense_Mutation_p.V509I|USP16_ENST00000399976.2_Missense_Mutation_p.V510I	p.V510I	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			15	1759	+			510						Missense_Mutation	SNP	ENST00000334352.4	37	c.1528G>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478861	0.12581	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.32272	3.4;3.39;3.39;1.46	5.08	0.955	0.19602	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.536420	0.03185	N	0.172530	T	0.14141	0.0342	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.31351	0.32;0.167;0.102;0.125	B;B;B;B	0.34301	0.179;0.085;0.086;0.14	T	0.19679	-1.0298	10	0.34782	T	0.22	.	5.4608	0.16615	0.322:0.0:0.5127:0.1653	.	139;495;509;510	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	I	509;510;510;139	ENSP00000382857:V509I;ENSP00000382858:V510I;ENSP00000334808:V510I;ENSP00000442855:V139I	ENSP00000334808:V510I	V	+	1	0	USP16	29341030	0.019000	0.18553	0.327000	0.25402	0.225000	0.24961	0.373000	0.20484	0.342000	0.23796	-0.749000	0.03505	GTC		0.333	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			26	272	0	0	0	1	0	26	272					A	30419159	G	A	30419159	3	1	79	1	0	0	0	0	1	0	0	0	17101	1377	48	2	1578	2	USP16	21	30419159	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60034	30419159	17710736	20545	30862											
USP16	10600	broad.mit.edu	37	chr21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagatccagaaactgctttCtgtactcttgcaaacaggga	9	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	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						AAACTGCTTTCTGTACTCTTG	0.363																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1849-1851)ttC>ttA		ubiquitin specific peptidase 16							126	130	129					21																	30419482		2203	4300	6503	SO:0001583	missense	0				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419482C>A	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.1851C>A	21.37:g.30419482C>A	ENSP00000334808:p.Phe617Leu					USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L	p.F617L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			15	2082	+			617						Missense_Mutation	SNP	ENST00000334352.4	37	c.1851C>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892456	0.72524	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.34072	3.3;3.3;3.3;1.38	4.99	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.52011	1.625	0.58432	D	0.999996	D;D;P;P	0.71674	0.994;0.998;0.955;0.592	D;D;P;P	0.80764	0.968;0.994;0.882;0.849	T	0.44772	-0.9306	10	0.62326	D	0.03	.	6.6131	0.22763	0.0:0.6976:0.0:0.3024	.	246;602;616;617	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	L	616;617;617;246	ENSP00000382857:F616L;ENSP00000382858:F617L;ENSP00000334808:F617L;ENSP00000442855:F246L	ENSP00000334808:F617L	F	+	3	2	USP16	29341353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.598000	0.36740	1.346000	0.45694	0.591000	0.81541	TTC		0.363	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			75	647	1	0	4.18771e-30	1	4.90557e-30	75	647					A	30419482	C	A	30419482	3	1	79	1	0	0	0	0	1	0	0	0	17101	912	32	3	1901	3	USP16	21	30419482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	323	30419482	17710413	20546	30863											
CCT8	10694	broad.mit.edu	37	chr21	30433572	30433572	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agttcagtgttttttcaaatAcctcaatatctaatccaacg	4	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	ENST00000286788.4	-	13	1656		c.e13+1		CCT8_ENST00000542732.1_Splice_Site|AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000470450.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTTTTCAAATACCTCAATATC	0.323																																						ENST00000286788.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						c.e13+1		chaperonin containing TCP1, subunit 8 (theta)							78	80	79					21																	30433572		2203	4300	6503	SO:0001630	splice_region_variant	10694				'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding	g.chr21:30433572A>G	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1449+1T>C	21.37:g.30433572A>G						CCT8_ENST00000470450.1_Splice_Site|CCT8_ENST00000540844.1_Splice_Site|CCT8_ENST00000542732.1_Splice_Site		NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN			13	1656	-								A6NN54|B4DEM7|B4DQH4|Q4VBP8	Splice_Site	SNP	ENST00000286788.4	37		CCDS33528.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.026103	0.75390	.	.	ENSG00000156261	ENST00000432178;ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5098	0.75772	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCT8	29355443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.655000	0.91098	2.304000	0.77564	0.528000	0.53228	.		0.323	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1		Intron	28	257	0	0	0	1	0	28	257					G	30433572	A	G	30433572	5	3	79	1	0	0	0	0	0	0	1	0	2969	405	14	4	207	4	CCT8	21	30433572	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14090	30433572	17696323	20547	30864											
C21orf7	56911	broad.mit.edu	37	chr21	30521531	30521531	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgatacaccccctgaagactCcattcctttggtctttccag	6	14	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30521531C>T	ENST00000399947.2	+	7	669	c.392C>T	c.(391-393)tCc>tTc	p.S131F	MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.S25F|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.S31F	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	131						cytosol (GO:0005829)|nucleus (GO:0005634)											CCTGAAGACTCCATTCCTTTG	0.418																																						ENST00000399935.2																			0											c.(91-93)tCc>tTc		MAP3K7 C-terminal like							166	158	161					21																	30521531		2203	4300	6503	SO:0001583	missense	56911							g.chr21:30521531C>T	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.392C>T	21.37:g.30521531C>T	ENSP00000382828:p.Ser131Phe					MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.S25F|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.S131F|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.S31F|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.S31F	p.S31F							8	759	+								D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.92C>T	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552610	0.27739	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.51817	0.69;0.69	4.49	2.66	0.31614	.	0.887861	0.09902	N	0.740977	T	0.40719	0.1128	L	0.54323	1.7	0.30889	N	0.730516	B;B	0.15473	0.0;0.013	B;B	0.12156	0.001;0.007	T	0.43261	-0.9402	10	0.45353	T	0.12	1.3396	5.3129	0.15841	0.1485:0.6289:0.1437:0.0789	.	31;131	B0EVZ8;P57077	.;TAK1L_HUMAN	F	25;131;31;31;131;31;31;31;31;31	ENSP00000343212:S131F;ENSP00000382828:S131F	ENSP00000345777:S31F	S	+	2	0	C21orf7	29443402	0.074000	0.21230	0.280000	0.24747	0.538000	0.34931	0.984000	0.29565	0.816000	0.34421	0.655000	0.94253	TCC		0.418	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		81	391	0	0	0	1	0	81	391					T	30521531	C	T	30521531	3	4	79	1	0	0	0	0	1	0	0	0	2139	855	30	2	410	2	C21orf7	21	30521531	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87959	30521531	17608364	20548	30865											
BACH1	571	broad.mit.edu	37	chr21	30698591	30698591	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatgcttttcatcacActgtcagaaaacagacctta	4	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30698591A>G	ENST00000399921.1	+	3	689	c.446A>G	c.(445-447)cAc>cGc	p.H149R	BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	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						TTTTCATCACACTGTCAGAAA	0.373																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(445-447)cAc>cGc		BTB and CNC homology 1, basic leucine zipper transcription factor 1							73	75	75					21																	30698591		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30698591A>G	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.446A>G	21.37:g.30698591A>G	ENSP00000382805:p.His149Arg					BACH1_ENST00000286800.3_Missense_Mutation_p.H149R	p.H149R	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	689	+			149					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.446A>G	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	A	4.953	0.177102	0.09443	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.76316	-0.54;-0.54;-0.87;-0.87;-1.01	5.45	1.81	0.25067	.	0.459050	0.23900	N	0.043458	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29274	-1.0017	10	0.22109	T	0.4	-4.9071	1.8311	0.03130	0.4783:0.1338:0.2672:0.1208	.	149	O14867	BACH1_HUMAN	R	149	ENSP00000286800:H149R;ENSP00000382805:H149R;ENSP00000400576:H149R;ENSP00000408605:H149R;ENSP00000392202:H149R	ENSP00000286800:H149R	H	+	2	0	BACH1	29620462	0.006000	0.16342	0.545000	0.28153	0.716000	0.41182	0.999000	0.29757	0.136000	0.18733	0.482000	0.46254	CAC		0.373	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		35	333	0	0	0	1	0	35	333					G	30698591	A	G	30698591	3	3	79	1	0	0	0	0	1	0	0	0	1284	159	6	4	452	4	BACH1	21	30698591	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	177060	30698591	17431304	20549	30866											
CLDN17	26285	broad.mit.edu	37	chr21	31538308	31538308	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcattgtcgtatttcttcGcttatctgtgtgtggcacac	9	9	2	0	rs377679902		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31538308G>A	ENST00000286808.3	-	1	663	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	210					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)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTATTTCTTCGCTTATCTGTG	0.453																																						ENST00000286808.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(628-630)Cga>Tga		claudin 17		G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	247	234	239		628	4.6	0	21		239	0,8600		0,0,4300	no	stop-gained	CLDN17	NM_012131.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		210/225	31538308	1,13005	2203	4300	6503	SO:0001587	stop_gained	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538308G>A	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.628C>T	21.37:g.31538308G>A	ENSP00000286808:p.Arg210*						p.R210*	NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN			1	663	-			210					Q3MJB5|Q6UY37	Nonsense_Mutation	SNP	ENST00000286808.3	37	c.628C>T	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271533	0.59649	2.27E-4	0.0	ENSG00000156282	ENST00000286808	.	.	.	4.63	4.63	0.57726	.	1.504630	0.03641	N	0.239477	.	.	.	.	.	.	0.37719	D	0.924843	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	18.4009	0.90515	0.0:0.0:1.0:0.0	.	.	.	.	X	210	.	ENSP00000286808:R210X	R	-	1	2	CLDN17	30460179	0.543000	0.26434	0.020000	0.16555	0.034000	0.12701	4.862000	0.62976	2.865000	0.98341	0.655000	0.94253	CGA		0.453	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131		37	305	0	0	0	1	0	37	305					A	31538308	G	A	31538308	4	1	79	1	0	0	0	0	0	1	0	0	3487	1095	38	1	50	1	CLDN17	21	31538308	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839717	31538308	16591587	20550	30867											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654660	31654660	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatagctttggggttggcaGctgttggaaatataacataa	11	4	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31654660G>T	ENST00000340345.4	-	1	616	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	197	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGGTTGGCAGCTGTTGGAAA	0.423																																						ENST00000340345.4																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(589-591)agC>agA		keratin associated protein 24-1							108	106	107					21																	31654660		1860	4106	5966	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654660G>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.591C>A	21.37:g.31654660G>T	ENSP00000339238:p.Ser197Arg						p.S197R	NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN			1	616	-			197			6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].		Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.591C>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	g	2.552	-0.303796	0.05495	.	.	ENSG00000188694	ENST00000340345	T	0.37058	1.22	4.93	0.789	0.18607	.	1.016370	0.07852	N	0.964882	T	0.20373	0.0490	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.29212	-1.0019	10	0.25106	T	0.35	-0.0641	6.5864	0.22622	0.0855:0.0:0.4606:0.454	.	197	Q3LI83	KR241_HUMAN	R	197	ENSP00000339238:S197R	ENSP00000339238:S197R	S	-	3	2	KRTAP24-1	30576531	0.139000	0.22563	0.000000	0.03702	0.001000	0.01503	0.131000	0.15870	0.022000	0.15160	-0.213000	0.12676	AGC		0.423	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		103	349	1	0	1.04553e-52	1	1.30113e-52	103	349					T	31654660	G	T	31654660	3	4	79	1	0	0	0	0	1	0	0	0	8573	962	34	3	177	3	KRTAP24-1	21	31654660	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	116352	31654660	16475235	20551	30868											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744473	31744473	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgaggatgctgggtagCgcaggtagtcaccacaggag	16	9	1	1	rs146985381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31744473C>T	ENST00000399889.2	-	1	84	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	20						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TGCTGGGTAGCGCAGGTAGTC	0.542													c|||	23	0.00459265	0.0008	0.0	5008	,	,		19202	0.006		0.0	False		,,,				2504	0.0164					ENST00000399889.2																			0				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						c.(58-60)cGc>cAc		keratin associated protein 13-2							147	130	136					21																	31744473		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744473C>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.59G>A	21.37:g.31744473C>T	ENSP00000382777:p.Arg20His						p.R20H	NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN			1	84	-			20						Missense_Mutation	SNP	ENST00000399889.2	37	c.59G>A	CCDS13589.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	c	0.083	-1.180788	0.01633	.	.	ENSG00000182816	ENST00000399889	T	0.02890	4.12	4.42	-5.38	0.02673	.	1.384710	0.05163	N	0.498224	T	0.02047	0.0064	L	0.48260	1.515	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.44574	-0.9319	10	0.15499	T	0.54	.	8.6683	0.34134	0.0:0.3444:0.1055:0.5501	.	20	Q52LG2	KR132_HUMAN	H	20	ENSP00000382777:R20H	ENSP00000382777:R20H	R	-	2	0	KRTAP13-2	30666344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.123000	0.00594	-1.931000	0.01055	-0.722000	0.03604	CGC		0.542	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			62	632	0	0	0	1	0	62	632					T	31744473	C	T	31744473	3	4	79	1	0	0	0	0	1	0	0	0	8553	768	27	1	472	1	KRTAP13-2	21	31744473	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89813	31744473	16385422	20552	30869											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768629	31768629	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctatgtggagtccagcccCtgccagacctcctgctaccg	9	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31768629C>A	ENST00000355459.2	+	1	238	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	75	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCCAGCCCCTGCCAGACCT	0.612																																						ENST00000355459.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(223-225)ccC>ccA		keratin associated protein 13-1							62	63	62					21																	31768629		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768629C>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.225C>A	21.37:g.31768629C>A							p.P75P	NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN			1	238	+			75			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.225C>A	CCDS13590.2																																																																																				0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			11	342	1	0	0.000673444	1	0.000681208	11	342					A	31768629	C	A	31768629	2	1	79	1	0	0	0	0	0	0	0	1	8552	668	24	3		3	KRTAP13-1	21	31768629	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24156	31768629	16361266	20553	30870											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802628	31802628	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctctagaaacttctcctCccgctcctttgggggctacc	8	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31802628C>T	ENST00000334068.2	+	1	57	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	12						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						AACTTCTCCTCCCGCTCCTTT	0.547																																					NSCLC(196;2401 3038 18004 35753)	ENST00000334068.2																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						c.(34-36)tCc>tTc		keratin associated protein 13-4							110	112	111					21																	31802628		2203	4300	6503	SO:0001583	missense	284827					intermediate filament		g.chr21:31802628C>T	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.35C>T	21.37:g.31802628C>T	ENSP00000334834:p.Ser12Phe						p.S12F	NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN			1	57	+			12					A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	c.35C>T	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	13.03	2.114494	0.37339	.	.	ENSG00000186971	ENST00000334068	T	0.09255	3.0	4.95	4.07	0.47477	.	0.174955	0.27052	U	0.021169	T	0.35941	0.0949	M	0.88450	2.955	0.30548	N	0.765701	D	0.89917	1.0	D	0.77004	0.989	T	0.45673	-0.9245	10	0.87932	D	0	.	10.1859	0.42998	0.0:0.9051:0.0:0.0949	.	12	Q3LI77	KR134_HUMAN	F	12	ENSP00000334834:S12F	ENSP00000334834:S12F	S	+	2	0	KRTAP13-4	30724499	0.030000	0.19436	0.837000	0.33122	0.029000	0.11900	1.872000	0.39549	1.394000	0.46624	0.650000	0.86243	TCC		0.547	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			133	511	0	0	0	1	0	133	511					T	31802628	C	T	31802628	3	4	79	1	0	0	0	0	1	0	0	0	8555	855	30	2	37	2	KRTAP13-4	21	31802628	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33999	31802628	16327267	20554	30871											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812700	31812700	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgttttggaagttacCtgaggtatccagtttccact	9	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812700C>A	ENST00000334067.3	+	1	104	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	19						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAAGTTACCTGAGGTATCC	0.463																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(55-57)Ctg>Atg		keratin associated protein 15-1							96	93	94					21																	31812700		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812700C>A	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"Keratin associated proteins"	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.55C>A	21.37:g.31812700C>A	ENSP00000334866:p.Leu19Met						p.L19M	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	104	+			19					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.55C>A	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228604	0.39399	.	.	ENSG00000186970	ENST00000334067	T	0.03717	3.83	4.7	-0.183	0.13284	.	0.385350	0.18546	N	0.138051	T	0.11707	0.0285	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03993	-1.0986	10	0.59425	D	0.04	-1.5745	7.2605	0.26201	0.0:0.5014:0.0:0.4986	.	19	Q3LI76	KR151_HUMAN	M	19	ENSP00000334866:L19M	ENSP00000334866:L19M	L	+	1	2	KRTAP15-1	30734571	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.369000	0.07533	-0.042000	0.13535	0.655000	0.94253	CTG		0.463	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			33	324	1	0	1.61788e-16	1	1.7777e-16	33	324					A	31812700	C	A	31812700	3	1	79	1	0	0	0	0	1	0	0	0	8556	680	24	3	57	3	KRTAP15-1	21	31812700	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10072	31812700	16317195	20555	30872											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812852	31812852	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatcctgcactttggccagAtcctatcagacatcctgtta	6	13	1	2	rs375869233		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812852A>C	ENST00000334067.3	+	1	256	c.207A>C	c.(205-207)agA>agC	p.R69S		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	69						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTTGGCCAGATCCTATCAGA	0.512																																						ENST00000334067.3																			0				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(205-207)agA>agC		keratin associated protein 15-1							124	117	119					21																	31812852		2203	4300	6503	SO:0001583	missense	254950					intermediate filament		g.chr21:31812852A>C	AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"Keratin associated proteins"	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.207A>C	21.37:g.31812852A>C	ENSP00000334866:p.Arg69Ser						p.R69S	NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN			1	256	+			69					Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	c.207A>C	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	A	2.037	-0.420979	0.04734	.	.	ENSG00000186970	ENST00000334067	T	0.02787	4.16	4.48	0.728	0.18260	.	0.648451	0.14151	N	0.337992	T	0.01421	0.0046	N	0.10916	0.065	0.09310	N	1	B	0.24920	0.114	B	0.31686	0.134	T	0.47573	-0.9107	10	0.02654	T	1	-0.1593	4.0417	0.09755	0.6046:0.2002:0.1952:0.0	.	69	Q3LI76	KR151_HUMAN	S	69	ENSP00000334866:R69S	ENSP00000334866:R69S	R	+	3	2	KRTAP15-1	30734723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.414000	0.21164	0.117000	0.18138	-0.331000	0.08364	AGA		0.512	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1			59	523	0	0	0	1	0	59	523					C	31812852	A	C	31812852	3	2	79	1	0	0	0	0	1	0	0	0	8556	330	12	4	209	4	KRTAP15-1	21	31812852	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	152	31812852	16317043	20556	30873											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852458	31852458	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagagccatatccgtagcctCcaaagccagagccatatccg	8	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31852458C>A	ENST00000390689.2	-	1	205	c.179G>T	c.(178-180)gGa>gTa	p.G60V		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	60	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TCCGTAGCCTCCAAAGCCAGA	0.522																																						ENST00000390689.2																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(178-180)gGa>gTa		keratin associated protein 19-1							217	231	226					21																	31852458		2203	4300	6503	SO:0001583	missense	337882					intermediate filament		g.chr21:31852458C>A	AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"Keratin associated proteins"	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.179G>T	21.37:g.31852458C>A	ENSP00000375108:p.Gly60Val						p.G60V	NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN			1	205	-			60			26 X 2 AA repeats of G-[YCGS].		A4QN27|Q3LI75	Missense_Mutation	SNP	ENST00000390689.2	37	c.179G>T	CCDS13594.1	.	.	.	.	.	.	.	.	.	.	C	3.115	-0.181755	0.06340	.	.	ENSG00000184351	ENST00000390689;ENST00000433652	T	0.11277	2.79	2.28	1.38	0.22167	.	0.000000	0.39475	U	0.001353	T	0.12860	0.0312	.	.	.	0.19945	N	0.999949	P	0.45986	0.87	P	0.48400	0.576	T	0.07654	-1.0761	9	0.87932	D	0	.	4.9284	0.13905	0.0:0.8163:0.0:0.1837	.	60	Q8IUB9	KR191_HUMAN	V	60;51	ENSP00000375108:G60V	ENSP00000375108:G60V	G	-	2	0	KRTAP19-1	30774329	0.667000	0.27484	0.004000	0.12327	0.021000	0.10359	1.794000	0.38774	0.500000	0.27991	0.313000	0.20887	GGA		0.522	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2			44	1708	1	0	3.5997e-14	1	3.90403e-14	44	1708					A	31852458	C	A	31852458	3	1	79	1	0	0	0	0	1	0	0	0	8558	855	30	3	95	3	KRTAP19-1	21	31852458	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39606	31852458	16277437	20557	30874											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869270	31869270	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gagaatccatatcctccataGcatgatgggcggcagtagcc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31869270G>T	ENST00000334058.2	-	1	181	c.159C>A	c.(157-159)tgC>tgA	p.C53*		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	53						intermediate filament (GO:0005882)		p.C53C(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTCCATAGCATGATGGGC	0.473																																						ENST00000334058.2																			1	Substitution - coding silent(1)	p.C53C(1)	ovary(1)	central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(157-159)tgC>tgA		keratin associated protein 19-4							130	133	132					21																	31869270		2203	4300	6503	SO:0001587	stop_gained	337971					intermediate filament		g.chr21:31869270G>T	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.159C>A	21.37:g.31869270G>T	ENSP00000335567:p.Cys53*						p.C53*	NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN			1	181	-			53					Q17RT4|Q17RT6	Nonsense_Mutation	SNP	ENST00000334058.2	37	c.159C>A	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509738	0.44660	.	.	ENSG00000186967	ENST00000334058	.	.	.	4.03	2.19	0.27852	.	.	.	.	.	.	.	.	.	.	.	0.35907	D	0.830791	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6235	0.17470	0.109:0.2007:0.6903:0.0	.	.	.	.	X	53	.	ENSP00000335567:C53X	C	-	3	2	KRTAP19-4	30791141	0.015000	0.18098	0.002000	0.10522	0.234000	0.25298	1.132000	0.31418	0.643000	0.30638	0.591000	0.81541	TGC		0.473	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2			77	886	1	0	9.59377e-39	1	1.15749e-38	77	886					T	31869270	G	T	31869270	4	4	79	1	0	0	0	0	0	1	0	0	8561	963	34	3	98	3	KRTAP19-4	21	31869270	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16812	31869270	16260625	20558	30875											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007688	32007688	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccatggctatggaggcctgGgctgtggctatggccgtggc	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32007688G>T	ENST00000330798.2	+	1	134	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	36						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGAGGCCTGGGCTGTGGCTA	0.547																																						ENST00000330798.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						c.(106-108)Ggc>Tgc		keratin associated protein 20-2							203	160	175					21																	32007688		2203	4300	6503	SO:0001583	missense	337976					intermediate filament		g.chr21:32007688G>T	AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"Keratin associated proteins"	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.106G>T	21.37:g.32007688G>T	ENSP00000330746:p.Gly36Cys						p.G36C	NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN			1	134	+			36						Missense_Mutation	SNP	ENST00000330798.2	37	c.106G>T	CCDS13604.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931851	0.34096	.	.	ENSG00000184032	ENST00000330798	T	0.19938	2.11	4.63	4.63	0.57726	.	0.000000	0.32147	U	0.006504	T	0.44329	0.1288	.	.	.	0.21355	N	0.999715	D	0.89917	1.0	D	0.79108	0.992	T	0.24728	-1.0152	9	0.87932	D	0	.	13.2097	0.59817	0.0:0.0:1.0:0.0	.	36	Q3LI61	KR202_HUMAN	C	36	ENSP00000330746:G36C	ENSP00000330746:G36C	G	+	1	0	KRTAP20-2	30929559	0.001000	0.12720	0.402000	0.26371	0.263000	0.26337	0.820000	0.27323	2.593000	0.87608	0.650000	0.86243	GGC		0.547	KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3			23	614	1	0	5.26018e-13	1	5.6673e-13	23	614					T	32007688	G	T	32007688	3	4	79	1	0	0	0	0	1	0	0	0	8567	1232	43	3	108	3	KRTAP20-2	21	32007688	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	138418	32007688	16122207	20559	30876											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127556	32127556	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagccagttccataaccacaGccataatgggagccaaaccc	7	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32127556G>T	ENST00000335093.3	-	1	190	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	47						intermediate filament (GO:0005882)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cataaccacagccataatggg	0.542																																						ENST00000335093.3																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						c.(139-141)ggC>ggA		keratin associated protein 21-1							156	135	142					21																	32127556		2203	4300	6503	SO:0001819	synonymous_variant	337977					intermediate filament		g.chr21:32127556G>T	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"Keratin associated proteins"	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.141C>A	21.37:g.32127556G>T							p.G47G	NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN			1	190	-			47						Silent	SNP	ENST00000335093.3	37	c.141C>A	CCDS13606.1																																																																																				0.542	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			181	807	1	0	1.85097e-90	1	2.37618e-90	181	807					T	32127556	G	T	32127556	2	4	79	1	0	0	0	0	0	0	0	1	8568	958	34	3		3	KRTAP21-1	21	32127556	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	119868	32127556	16002339	20560	30877											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253481	32253481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgccgcccactggttgGcagacactggagatgcctcc	13	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32253481G>A	ENST00000332378.4	-	1	393	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	121	4 X 10 AA approximate repeats.					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCACTGGTTGGCAGACACTGG	0.577																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(361-363)tgC>tgT		keratin associated protein 11-1							62	63	63					21																	32253481		2203	4300	6503	SO:0001819	synonymous_variant	0					keratin filament	structural molecule activity	g.chr21:32253481G>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.363C>T	21.37:g.32253481G>A							p.C121C	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	393	-			121			4 X 10 AA approximate repeats.		A1L4I8	Silent	SNP	ENST00000332378.4	37	c.363C>T	CCDS13608.1																																																																																				0.577	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			83	276	0	0	0	1	0	83	276					A	32253481	G	A	32253481	2	1	79	1	0	0	0	0	0	0	0	1	8547	1195	42	2		2	KRTAP11-1	21	32253481	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	125925	32253481	15876414	20561	30878											
KRTAP19-8	728299	broad.mit.edu	37	chr21	32410635	32410635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacagctgaatccatagCctccgtagccacagccatag	9	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32410635C>T	ENST00000382822.2	-	1	160	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	43						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						GAATCCATAGCCTCCGTAGCC	0.532																																						ENST00000382822.2																			0				endometrium(2)|upper_aerodigestive_tract(1)	3						c.(127-129)gGc>gAc		keratin associated protein 19-8							90	109	103					21																	32410635		2203	4300	6503	SO:0001583	missense	728299					intermediate filament		g.chr21:32410635C>T	AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"Keratin associated proteins"	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.128G>A	21.37:g.32410635C>T	ENSP00000372272:p.Gly43Asp						p.G43D	NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN			1	160	-			43						Missense_Mutation	SNP	ENST00000382822.2	37	c.128G>A	CCDS42917.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296427	0.23650	.	.	ENSG00000206102	ENST00000382822	T	0.21031	2.03	4.05	3.14	0.36123	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.20563	N	0.999883	D	0.71674	0.998	D	0.65573	0.936	T	0.10337	-1.0634	8	0.87932	D	0	.	6.9701	0.24644	0.0:0.8686:0.0:0.1314	.	43	Q3LI54	KR198_HUMAN	D	43	ENSP00000372272:G43D	ENSP00000372272:G43D	G	-	2	0	KRTAP19-8	31332506	0.002000	0.14202	0.432000	0.26747	0.146000	0.21551	-0.033000	0.12246	1.009000	0.39289	0.505000	0.49811	GGC		0.532	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000128239.3	NM_001099219		75	733	0	0	0	1	0	75	733					T	32410635	C	T	32410635	3	4	79	1	0	0	0	0	1	0	0	0	8565	739	26	2	67	2	KRTAP19-8	21	32410635	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	157154	32410635	15719260	20562	30879											
TIAM1	7074	broad.mit.edu	37	chr21	32492816	32492816	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttcttgagctgtgccatgCgggacgcgtgactatccagg	14	11	1	2	rs143032407	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32492816C>T	ENST00000286827.3	-	29	5117	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1549					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						CTGTGCCATGCGGGACGCGTG	0.597																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4645-4647)cGc>cAc		T-cell lymphoma invasion and metastasis 1		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	80	72	75		4646	4.9	1	21	dbSNP_134	75	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1549/1592	32492816	2,13004	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32492816C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4646G>A	21.37:g.32492816C>T	ENSP00000286827:p.Arg1549His					TIAM1_ENST00000541036.1_Missense_Mutation_p.R1489H	p.R1549H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	5117	-			1549					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4646G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310077	0.81247	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.45276	0.9;0.92	4.95	4.95	0.65309	.	0.078275	0.46442	D	0.000294	T	0.51193	0.1660	L	0.47716	1.5	0.42271	D	0.992052	D;D	0.65815	0.995;0.991	P;P	0.52672	0.706;0.511	T	0.57165	-0.7858	10	0.87932	D	0	.	18.2147	0.89881	0.0:1.0:0.0:0.0	.	1489;1549	F5GZ53;Q13009	.;TIAM1_HUMAN	H	1549;1489	ENSP00000286827:R1549H;ENSP00000441570:R1489H	ENSP00000286827:R1549H	R	-	2	0	TIAM1	31414687	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.771000	0.47670	2.294000	0.77228	0.655000	0.94253	CGC		0.597	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		72	263	0	0	0	1	0	72	263					T	32492816	C	T	32492816	3	4	79	1	0	0	0	0	1	0	0	0	15942	768	27	1	133	1	TIAM1	21	32492816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82181	32492816	15637079	20563	30880											
TIAM1	7074	broad.mit.edu	37	chr21	32526607	32526607	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tccaggagctcgcagatcacCttgcgcagcttatctgcatc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32526607C>A	ENST00000286827.3	-	18	3600	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1043	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						CGCAGATCACCTTGCGCAGCT	0.567																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3127-3129)aaG>aaT		T-cell lymphoma invasion and metastasis 1							89	82	85					21																	32526607		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526607C>A		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.3129G>T	21.37:g.32526607C>A	ENSP00000286827:p.Lys1043Asn					TIAM1_ENST00000541036.1_Missense_Mutation_p.K983N	p.K1043N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			18	3600	-			1043			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3129G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955449	0.73902	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.67865	-0.29;-0.29	6.17	3.4	0.38934	Dbl homology (DH) domain (3);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	L	0.39147	1.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.69544	-0.5117	10	0.39692	T	0.17	.	10.7591	0.46253	0.0:0.7469:0.0:0.2531	.	983;983;1043	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	N	1043;884;983	ENSP00000286827:K1043N;ENSP00000441570:K983N	ENSP00000286827:K1043N	K	-	3	2	TIAM1	31448478	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	0.843000	0.27640	0.948000	0.37687	0.655000	0.94253	AAG		0.567	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		67	238	1	0	6.1719e-39	1	7.45173e-39	67	238					A	32526607	C	A	32526607	3	1	79	1	0	0	0	0	1	0	0	0	15942	680	24	3	1694	3	TIAM1	21	32526607	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33791	32526607	15603288	20564	30881											
TIAM1	7074	broad.mit.edu	37	chr21	32537345	32537345	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcggtctcctctggagcggtCtcagcactgctgccctgctc	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32537345C>T	ENST00000286827.3	-	17	3396	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	TIAM1_ENST00000541036.1_Silent_p.E915E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	975					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						CTGGAGCGGTCTCAGCACTGC	0.512																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2923-2925)gaG>gaA		T-cell lymphoma invasion and metastasis 1							78	73	75					21																	32537345		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32537345C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2925G>A	21.37:g.32537345C>T						TIAM1_ENST00000541036.1_Silent_p.E915E	p.E975E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			17	3396	-			975					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.2925G>A	CCDS13609.1																																																																																				0.512	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		41	197	0	0	0	1	0	41	197					T	32537345	C	T	32537345	2	4	79	1	0	0	0	0	0	0	0	1	15942	912	32	2		2	TIAM1	21	32537345	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10738	32537345	15592550	20565	30882											
TIAM1	7074	broad.mit.edu	37	chr21	32624336	32624336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtacaccccctgacgagccGcatccccggtggagctgctg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32624336G>A	ENST00000286827.3	-	6	1604	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	378					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						CTGACGAGCCGCATCCCCGGT	0.662																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1132-1134)gCg>gTg		T-cell lymphoma invasion and metastasis 1							62	69	67					21																	32624336		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32624336G>A		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.1133C>T	21.37:g.32624336G>A	ENSP00000286827:p.Ala378Val					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.A378V	p.A378V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			6	1604	-			378					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1133C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465025	0.43839	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.40476	1.03;1.03	4.86	4.86	0.63082	.	0.246207	0.40469	N	0.001093	T	0.23846	0.0577	N	0.17082	0.46	0.36777	D	0.884119	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.06405	0.002;0.001;0.001	T	0.17107	-1.0380	10	0.26408	T	0.33	.	7.4756	0.27374	0.0909:0.2254:0.6837:0.0	.	378;378;378	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	378;219;378	ENSP00000286827:A378V;ENSP00000441570:A378V	ENSP00000286827:A378V	A	-	2	0	TIAM1	31546207	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	3.223000	0.51231	2.497000	0.84241	0.655000	0.94253	GCG		0.662	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		63	562	0	0	0	1	0	63	562					A	32624336	G	A	32624336	3	1	79	1	0	0	0	0	1	0	0	0	15942	1087	38	1	3738	1	TIAM1	21	32624336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86991	32624336	15505559	20566	30883											
SFRS15	57466	broad.mit.edu	37	chr21	33043863	33043863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctacatttcccacttggCtaatgggaggttcaacggtt	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33043863C>T	ENST00000286835.7	-	20	3675	c.3293G>A	c.(3292-3294)aGc>aAc	p.S1098N	SCAF4_ENST00000399804.1_Missense_Mutation_p.S1076N|SCAF4_ENST00000434667.3_Missense_Mutation_p.S1083N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1098						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						TCCCACTTGGCTAATGGGAGG	0.507																																						ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3292-3294)aGc>aAc		SR-related CTD-associated factor 4							151	143	146					21																	33043863		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33043863C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3293G>A	21.37:g.33043863C>T	ENSP00000286835:p.Ser1098Asn					SCAF4_ENST00000434667.3_Missense_Mutation_p.S1083N|SCAF4_ENST00000399804.1_Missense_Mutation_p.S1076N	p.S1098N	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3675	-			1098					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.3293G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170669	0.38315	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.23147	1.92;1.92;1.92	5.91	4.09	0.47781	.	0.249082	0.42172	N	0.000756	T	0.17023	0.0409	N	0.24115	0.695	0.33173	D	0.548566	P;B;B	0.35714	0.517;0.0;0.136	B;B;B	0.33454	0.164;0.002;0.124	T	0.17501	-1.0367	10	0.45353	T	0.12	-5.8717	11.6986	0.51558	0.0:0.8091:0.1245:0.0664	.	1083;1076;1098	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	N	1083;1098;1076	ENSP00000402377:S1083N;ENSP00000286835:S1098N;ENSP00000382703:S1076N	ENSP00000286835:S1098N	S	-	2	0	SCAF4	31965734	0.857000	0.29778	0.978000	0.43139	0.887000	0.51463	2.003000	0.40844	0.823000	0.34589	0.655000	0.94253	AGC		0.507	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		108	424	0	0	0	1	0	108	424					T	33043863	C	T	33043863	3	4	79	1	0	0	0	0	1	0	0	0	14221	797	28	2	154	2	SFRS15	21	33043863	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	419527	33043863	15086032	20567	30884											
C21orf45	54069	broad.mit.edu	37	chr21	33642728	33642728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacttacctttcaatggCttcaacactgaggcaaaaca	5	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642728C>A	ENST00000290130.3	-	3	568	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	172					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CTTTCAATGGCTTCAACACTG	0.413																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(514-516)Gcc>Tcc		MIS18 kinetochore protein A							86	77	80					21																	33642728		2203	4300	6503	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33642728C>A	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.514G>T	21.37:g.33642728C>A	ENSP00000290130:p.Ala172Ser					MIS18A_ENST00000486363.1_5'UTR	p.A172S	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			3	568	-			172					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.514G>T	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002942	0.35320	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	4.82	0.62117	.	0.134114	0.50627	D	0.000119	T	0.45637	0.1352	L	0.47016	1.485	0.32361	N	0.557132	B	0.32324	0.364	B	0.34722	0.188	T	0.52480	-0.8570	9	0.21540	T	0.41	-11.8678	12.8034	0.57598	0.174:0.826:0.0:0.0	.	172	Q9NYP9	MS18A_HUMAN	S	172	.	ENSP00000290130:A172S	A	-	1	0	MIS18A	32564599	0.732000	0.28121	0.998000	0.56505	0.909000	0.53808	1.096000	0.30976	2.724000	0.93272	0.555000	0.69702	GCC		0.413	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		19	172	1	0	4.35082e-09	1	4.56966e-09	19	172					A	33642728	C	A	33642728	3	1	79	1	0	0	0	0	1	0	0	0	2133	797	28	3	199	3	C21orf45	21	33642728	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	598865	33642728	14487167	20568	30885											
C21orf45	54069	broad.mit.edu	37	chr21	33642777	33642777	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaatcaagattcttgggCgtgcatctgtacacgtagcc	10	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642777C>T	ENST00000290130.3	-	3	519	c.465G>A	c.(463-465)acG>acA	p.T155T	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	155					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GATTCTTGGGCGTGCATCTGT	0.428																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(463-465)acG>acA		MIS18 kinetochore protein A							92	80	84					21																	33642777		2203	4300	6503	SO:0001819	synonymous_variant	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33642777C>T	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.465G>A	21.37:g.33642777C>T						MIS18A_ENST00000486363.1_5'UTR	p.T155T	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			3	519	-			155					B2R562|Q542Z0	Silent	SNP	ENST00000290130.3	37	c.465G>A	CCDS13611.1																																																																																				0.428	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		26	183	0	0	0	1	0	26	183					T	33642777	C	T	33642777	2	4	79	1	0	0	0	0	0	0	0	1	2133	755	27	1		1	C21orf45	21	33642777	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49	33642777	14487118	20569	30886											
C21orf45	54069	broad.mit.edu	37	chr21	33651204	33651204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttctgcaacagctggtggCggctcgagtcttcggagagt	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33651204C>T	ENST00000290130.3	-	1	176	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	41					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CAGCTGGTGGCGGCTCGAGTC	0.647																																						ENST00000290130.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(121-123)cGc>cAc		MIS18 kinetochore protein A							24	24	24					21																	33651204		2202	4298	6500	SO:0001583	missense	54069				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm		g.chr21:33651204C>T	AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 46", "chromosome 21 open reading frame 45", "MIS18 kinetochore protein homolog A (S. pombe)"	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.122G>A	21.37:g.33651204C>T	ENSP00000290130:p.Arg41His					MIS18A-AS1_ENST00000453549.1_RNA	p.R41H	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN			1	176	-			41					B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	c.122G>A	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.912422	0.92178	.	.	ENSG00000159055	ENST00000290130	.	.	.	4.81	3.92	0.45320	.	0.247232	0.32868	N	0.005558	T	0.41766	0.1173	L	0.57536	1.79	0.31136	N	0.707187	B	0.31100	0.308	B	0.26202	0.067	T	0.54289	-0.8316	9	0.72032	D	0.01	-17.5797	10.3483	0.43920	0.0:0.9076:0.0:0.0924	.	41	Q9NYP9	MS18A_HUMAN	H	41	.	ENSP00000290130:R41H	R	-	2	0	MIS18A	32573075	0.437000	0.25593	0.967000	0.41034	0.973000	0.67179	0.727000	0.25999	1.384000	0.46424	0.650000	0.86243	CGC		0.647	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944		22	164	0	0	0	1	0	22	164					T	33651204	C	T	33651204	3	4	79	1	0	0	0	0	1	0	0	0	2133	768	27	1	599	1	C21orf45	21	33651204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8427	33651204	14478691	20570	30887											
C21orf59	56683	broad.mit.edu	37	chr21	33984442	33984442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgctgcaccttgagccGcccattatagacccgggcca	12	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33984442G>A	ENST00000290155.3	-	1	734	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	AP000275.65_ENST00000553001.1_Missense_Mutation_p.R38W|C21orf59_ENST00000540881.1_Missense_Mutation_p.R38W|C21orf59_ENST00000382549.4_Missense_Mutation_p.R38W	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	38						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ACCTTGAGCCGCCCATTATAG	0.682																																						ENST00000382549.4																			0				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						c.(112-114)Cgg>Tgg		chromosome 21 open reading frame 59							13	13	13					21																	33984442		2182	4263	6445	SO:0001583	missense	56683					cytosol|nucleus		g.chr21:33984442G>A	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"chromosome 21 open reading frame 48"	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.112C>T	21.37:g.33984442G>A	ENSP00000290155:p.Arg38Trp					C21orf59_ENST00000540881.1_Missense_Mutation_p.R38W|C21orf59_ENST00000290155.3_Missense_Mutation_p.R38W|C21ORF59_ENST00000607686.1_Missense_Mutation_p.R38W	p.R38W			P57076	CU059_HUMAN			1	454	-			38					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.112C>T	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963276	0.53507	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000540881;ENST00000458138	.	.	.	4.85	0.516	0.17019	.	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.92367	3.3	0.48288	D	0.999623	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.981;0.981	T	0.81106	-0.1083	9	0.87932	D	0	-34.6757	9.8627	0.41125	0.0721:0.0:0.3772:0.5507	.	38;38;38;38;38	F5GXV2;C9J818;P57076;D3DSE6;Q96NJ2	.;.;CU059_HUMAN;.;.	W	38	.	ENSP00000290155:R38W	R	-	1	2	C21orf59	32906313	0.998000	0.40836	0.997000	0.53966	0.138000	0.21146	2.204000	0.42761	0.195000	0.20347	0.455000	0.32223	CGG		0.682	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1	NM_021254		5	22	0	0	0	1	0	5	22					A	33984442	G	A	33984442	3	1	79	1	0	0	0	0	1	0	0	0	2137	1086	38	1	788	1	C21orf59	21	33984442	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	333238	33984442	14145453	20571	30888											
GCFC1	94104	broad.mit.edu	37	chr21	34110549	34110549	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaagccatgagaatatatcGatttaataaaccatctattg	5	6	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34110549G>A	ENST00000331923.4	-	16	2605	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000455170.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	806					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)										AGAATATATCGATTTAATAAA	0.313																																						ENST00000331923.4																			0											c.(2416-2418)Cga>Tga		PAX3 and PAX7 binding protein 1							70	72	71					21																	34110549		2203	4295	6498	SO:0001587	stop_gained	94104							g.chr21:34110549G>A	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.2416C>T	21.37:g.34110549G>A	ENSP00000328992:p.Arg806*					PAXBP1-AS1_ENST00000440052.1_RNA	p.R806*	NM_016631.3	NP_057715.2					16	2605	-								D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	ENST00000331923.4	37	c.2416C>T	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	39	7.832613	0.98513	.	.	ENSG00000159086	ENST00000331923	.	.	.	5.72	3.19	0.36642	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8421	12.4223	0.55527	0.0:0.0:0.2692:0.7308	.	.	.	.	X	806	.	ENSP00000328992:R806X	R	-	1	2	GCFC1	33032420	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	0.865000	0.27940	1.107000	0.41642	-0.388000	0.06559	CGA		0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		43	195	0	0	0	1	0	43	195					A	34110549	G	A	34110549	4	1	79	1	0	0	0	0	0	1	0	0	6317	1066	37	1	349	1	GCFC1	21	34110549	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126107	34110549	14019346	20572	30889											
IFNAR2	3455	broad.mit.edu	37	chr21	34619141	34619141	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtcctagaaggattcAgcgggaacacaacgttgttc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34619141A>C	ENST00000342136.4	+	5	666	c.340A>C	c.(340-342)Agc>Cgc	p.S114R	IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R|AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000404220.3_Missense_Mutation_p.S114R			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	114					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|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)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""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)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	AGAAGGATTCAGCGGGAACAC	0.468																																						ENST00000404220.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(340-342)Agc>Cgc		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						179	135	149					21																	34619141		2203	4300	6503	SO:0001583	missense	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34619141A>C		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.340A>C	21.37:g.34619141A>C	ENSP00000343957:p.Ser114Arg					IFNAR2_ENST00000342101.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000413881.1_Missense_Mutation_p.S42R|IFNAR2_ENST00000420068.1_3'UTR|IFNAR2_ENST00000342136.4_Missense_Mutation_p.S114R|AP000295.9_ENST00000433395.2_Silent_p.S21S|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S114R|IFNAR2_ENST00000382264.3_Missense_Mutation_p.S114R	p.S114R			P48551	INAR2_HUMAN			5	669	+			114					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.340A>C	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.759776	0.31137	.	.	ENSG00000159110	ENST00000382264;ENST00000404220;ENST00000382241;ENST00000342136;ENST00000342101;ENST00000413881;ENST00000443073;ENST00000447980	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.02	-6.61	0.01818	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.463445	0.19627	U	0.109766	T	0.44307	0.1287	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.13145	0.002;0.007;0.003	B;B;B	0.09377	0.002;0.004;0.004	T	0.43327	-0.9398	10	0.02654	T	1	.	17.0179	0.86424	0.1906:0.8094:0.0:0.0	.	114;114;114	P48551-3;P48551;P48551-2	.;INAR2_HUMAN;.	R	114;114;114;114;114;42;42;138	ENSP00000371699:S114R;ENSP00000384309:S114R;ENSP00000371676:S114R;ENSP00000343957:S114R;ENSP00000343289:S114R;ENSP00000413160:S42R;ENSP00000403569:S42R;ENSP00000402311:S138R	ENSP00000343289:S114R	S	+	1	0	IFNAR2	33541011	0.001000	0.12720	0.000000	0.03702	0.459000	0.32528	-0.095000	0.11077	-1.170000	0.02769	0.533000	0.62120	AGC		0.468	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			34	144	0	0	0	1	0	34	144					C	34619141	A	C	34619141	3	2	79	1	0	0	0	0	1	0	0	0	7575	188	7	4	354	4	IFNAR2	21	34619141	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	508592	34619141	13510754	20573	30890											
IFNAR2	3455	broad.mit.edu	37	chr21	34635602	34635602	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttagaagcccctctgatgCtatcgtctcatctggaagag	9	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34635602C>T	ENST00000342136.4	+	9	1671	c.1345C>T	c.(1345-1347)Cta>Tta	p.L449L	IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Silent_p.L449L|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	449					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|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)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""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)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	CCCTCTGATGCTATCGTCTCA	0.498																																						ENST00000342136.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(1345-1347)Cta>Tta		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						257	258	258					21																	34635602		2203	4300	6503	SO:0001819	synonymous_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34635602C>T		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1345C>T	21.37:g.34635602C>T						IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Silent_p.L449L	p.L449L			P48551	INAR2_HUMAN			9	1671	+			449					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Silent	SNP	ENST00000342136.4	37	c.1345C>T	CCDS13621.1																																																																																				0.498	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			56	1480	0	0	0	1	0	56	1480					T	34635602	C	T	34635602	2	4	79	1	0	0	0	0	0	0	0	1	7575	796	28	2		2	IFNAR2	21	34635602	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16461	34635602	13494293	20574	30891											
IL10RB	3588	broad.mit.edu	37	chr21	34652146	34652146	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctaaaattgagaatgaatacGaaacttggactatgaagaat	8	4	0	4	rs387907326		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34652146G>A	ENST00000290200.2	+	4	529	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	AP000295.9_ENST00000433395.2_Silent_p.T268T	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	141	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GAATGAATACGAAACTTGGAC	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		21711	0.001		0.0	False		,,,				2504	0.0				Melanoma(67;315 1275 21667 21943 44564)	ENST00000290200.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(421-423)Gaa>Aaa		interleukin 10 receptor, beta							202	195	197					21																	34652146		2203	4300	6503	SO:0001583	missense	3588							g.chr21:34652146G>A	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"Interleukins and interleukin receptors", "CD molecules"	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.421G>A	21.37:g.34652146G>A	ENSP00000290200:p.Glu141Lys					AP000295.9_ENST00000433395.2_Silent_p.T268T	p.E141K	NM_000628.4	NP_000619.3					4	529	+								Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.421G>A	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991208	0.35131	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.28454	1.61	5.75	2.9	0.33743	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.717553	0.14025	N	0.346532	T	0.31104	0.0786	M	0.82517	2.595	0.09310	N	1	D;P;D;D	0.56035	0.974;0.946;0.974;0.968	B;B;B;B	0.43701	0.428;0.346;0.428;0.302	T	0.27226	-1.0080	10	0.06757	T	0.87	-5.1489	5.5265	0.16960	0.1686:0.0:0.6735:0.1579	.	143;141;141;141	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	K	141	ENSP00000290200:E141K	ENSP00000290200:E141K	E	+	1	0	IL10RB	33574016	0.003000	0.15002	0.003000	0.11579	0.050000	0.14768	0.371000	0.20450	0.755000	0.32990	0.643000	0.83706	GAA		0.378	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			63	570	0	0	0	1	0	63	570					A	34652146	G	A	34652146	3	1	79	1	0	0	0	0	1	0	0	0	7651	1059	37	1	435	1	IL10RB	21	34652146	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16544	34652146	13477749	20575	30892											
IFNAR1	3454	broad.mit.edu	37	chr21	34725173	34725173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaaaagctgaataaaaGcagtgtttttagtgacgctg	12	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34725173G>T	ENST00000270139.3	+	9	1405	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	418	Fibronectin type-III 4. {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)"	CTGAATAAAAGCAGTGTTTTT	0.328																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(1252-1254)aGc>aTc		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						83	88	86					21																	34725173		2203	4300	6503	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34725173G>T		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.1253G>T	21.37:g.34725173G>T	ENSP00000270139:p.Ser418Ile					IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S349I	p.S418I	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			9	1405	+			418			Fibronectin type-III 3.		B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.1253G>T	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088106	0.36855	.	.	ENSG00000142166	ENST00000416947;ENST00000270139	T;T	0.31769	1.48;1.48	5.38	4.39	0.52855	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.672052	0.15859	N	0.241111	T	0.52549	0.1741	M	0.73598	2.24	0.35803	D	0.823276	D	0.65815	0.995	D	0.68621	0.959	T	0.59144	-0.7509	10	0.35671	T	0.21	-9.2815	11.7482	0.51832	0.0:0.2872:0.7128:0.0	.	418	P17181	INAR1_HUMAN	I	349;418	ENSP00000395606:S349I;ENSP00000270139:S418I	ENSP00000270139:S418I	S	+	2	0	IFNAR1	33647043	0.998000	0.40836	0.909000	0.35828	0.041000	0.13682	1.209000	0.32357	0.982000	0.38575	0.585000	0.79938	AGC		0.328	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			39	383	1	0	6.99958e-10	1	7.39112e-10	39	383					T	34725173	G	T	34725173	3	4	79	1	0	0	0	0	1	0	0	0	7574	971	34	3	1287	3	IFNAR1	21	34725173	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73027	34725173	13404722	20576	30893											
IFNAR1	3454	broad.mit.edu	37	chr21	34727821	34727821	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgaaagcgaaagtaAaacaagtgaagaactacagc	10	5	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34727821A>C	ENST00000270139.3	+	11	1792	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T	IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T|IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	547					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)"	AGCGAAAGTAAAACAAGTGAA	0.373																																					Esophageal Squamous(73;817 1211 32990 35667 42746)	ENST00000270139.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14						c.(1639-1641)aAa>aCa		interferon (alpha, beta and omega) receptor 1	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						94	99	97					21																	34727821		2203	4300	6503	SO:0001583	missense	3454				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity	g.chr21:34727821A>C		CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"Interferons"	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.1640A>C	21.37:g.34727821A>C	ENSP00000270139:p.Lys547Thr					IFNAR1_ENST00000442357.2_Missense_Mutation_p.K486T|IFNAR1_ENST00000416947.2_Missense_Mutation_p.K478T	p.K547T	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN			11	1792	+			547					B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Missense_Mutation	SNP	ENST00000270139.3	37	c.1640A>C	CCDS13624.1	.	.	.	.	.	.	.	.	.	.	A	11.35	1.612357	0.28712	.	.	ENSG00000142166	ENST00000416947;ENST00000270139;ENST00000442357	T;T;T	0.48522	0.81;0.94;1.52	5.3	1.68	0.24146	.	2.586540	0.00929	N	0.002695	T	0.55146	0.1902	M	0.73598	2.24	0.09310	N	1	D	0.56521	0.976	P	0.46685	0.524	T	0.32455	-0.9906	10	0.45353	T	0.12	-8.2839	6.7289	0.23373	0.7204:0.0:0.2796:0.0	.	547	P17181	INAR1_HUMAN	T	478;547;486	ENSP00000395606:K478T;ENSP00000270139:K547T;ENSP00000407406:K486T	ENSP00000270139:K547T	K	+	2	0	IFNAR1	33649691	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	1.024000	0.30077	0.047000	0.15862	0.533000	0.62120	AAA		0.373	IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4			67	265	0	0	0	1	0	67	265					C	34727821	A	C	34727821	3	2	79	1	0	0	0	0	1	0	0	0	7574	14	1	4	1682	4	IFNAR1	21	34727821	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2648	34727821	13402074	20577	30894											
DNAJC28	54943	broad.mit.edu	37	chr21	34861515	34861515	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctgacttcatctgcagaGcatccttcctccacgttcag	6	16	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34861515G>T	ENST00000314399.3	-	2	624	c.186C>A	c.(184-186)tgC>tgA	p.C62*	DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	62	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATCTGCAGAGCATCCTTCCT	0.373																																						ENST00000314399.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						c.(184-186)tgC>tgA		DnaJ (Hsp40) homolog, subfamily C, member 28							192	181	185					21																	34861515		2203	4300	6503	SO:0001587	stop_gained	54943						heat shock protein binding	g.chr21:34861515G>T	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.186C>A	21.37:g.34861515G>T	ENSP00000320303:p.Cys62*					DNAJC28_ENST00000402202.1_Nonsense_Mutation_p.C62*|DNAJC28_ENST00000381947.3_Nonsense_Mutation_p.C62*	p.C62*	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN			2	624	-			62			J.		D3DSF2	Nonsense_Mutation	SNP	ENST00000314399.3	37	c.186C>A	CCDS13626.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287351	0.80803	.	.	ENSG00000177692	ENST00000381947;ENST00000314399;ENST00000402202	.	.	.	5.39	-1.03	0.10102	.	0.140012	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3122	10.0629	0.42286	0.614:0.0:0.386:0.0	.	.	.	.	X	62	.	ENSP00000320303:C62X	C	-	3	2	DNAJC28	33783385	0.960000	0.32886	0.972000	0.41901	0.377000	0.30045	0.143000	0.16115	-0.079000	0.12707	-0.251000	0.11542	TGC		0.373	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3			62	631	1	0	6.75472e-32	1	7.9656e-32	62	631					T	34861515	G	T	34861515	4	4	79	1	0	0	0	0	0	1	0	0	4662	963	34	3	984	3	DNAJC28	21	34861515	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	133694	34861515	13268380	20578	30895											
SON	6651	broad.mit.edu	37	chr21	34923064	34923064	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaccgaacaacctgtgacGacgacagagttggagcagcc	12	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34923064G>A	ENST00000356577.4	+	3	2002	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T509T|SON_ENST00000300278.4_Silent_p.T509T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	509					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						AACCTGTGACGACGACAGAGT	0.582																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1525-1527)acG>acA		SON DNA binding protein							138	141	140					21																	34923064		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923064G>A	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.1527G>A	21.37:g.34923064G>A						SON_ENST00000290239.6_Silent_p.T509T|SON_ENST00000300278.4_Silent_p.T509T|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T509T	p.T509T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2002	+			509					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.1527G>A	CCDS13629.1																																																																																				0.582	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		82	716	0	0	0	1	0	82	716					A	34923064	G	A	34923064	2	1	79	1	0	0	0	0	0	0	0	1	14976	1045	37	1		1	SON	21	34923064	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61549	34923064	13206831	20579	30896											
SON	6651	broad.mit.edu	37	chr21	34927550	34927550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagatcaaggtctgtgGtaagaagacgaagcttcagt	14	5	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34927550G>A	ENST00000356577.4	+	3	6488	c.6013G>A	c.(6013-6015)Gta>Ata	p.V2005I	SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.V2005I|SON_ENST00000300278.4_Missense_Mutation_p.V2005I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2005	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				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						AAGGTCTGTGGTAAGAAGACG	0.597																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6013-6015)Gta>Ata		SON DNA binding protein							78	75	76					21																	34927550		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927550G>A	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.6013G>A	21.37:g.34927550G>A	ENSP00000348984:p.Val2005Ile					SON_ENST00000290239.6_Missense_Mutation_p.V2005I|SON_ENST00000300278.4_Missense_Mutation_p.V2005I|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.V2005I	p.V2005I	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	6488	+			2005			2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6013G>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.344|9.344	1.063723|1.063723	0.20067|0.20067	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541|ENST00000436227	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.291703|.	0.24525|.	N|.	0.037772|.	T|.	0.31231|.	0.0790|.	N|N	0.08118|0.08118	0|0	0.33302|0.33302	D|D	0.564994|0.564994	B;B;B;B;B|.	0.24823|.	0.063;0.038;0.037;0.112;0.112|.	B;B;B;B;B|.	0.23852|.	0.033;0.015;0.012;0.049;0.033|.	T|.	0.41484|.	-0.9506|.	10|.	0.56958|.	D|.	0.05|.	.|.	11.5444|11.5444	0.50685|0.50685	0.082:0.0:0.918:0.0|0.082:0.0:0.918:0.0	.|.	2005;2005;1686;2005;2005|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	I|X	2005;2005;2005;2005;66|999	ENSP00000348984:V2005I;ENSP00000290239:V2005I;ENSP00000300278:V2005I;ENSP00000371095:V2005I|.	ENSP00000290239:V2005I|.	V|W	+|+	1|3	0|0	SON|SON	33849420|33849420	0.998000|0.998000	0.40836|0.40836	0.986000|0.986000	0.45419|0.45419	0.745000|0.745000	0.42441|0.42441	3.285000|3.285000	0.51716|0.51716	2.628000|2.628000	0.89032|0.89032	0.650000|0.650000	0.86243|0.86243	GTA|TGG		0.597	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		91	303	0	0	0	1	0	91	303					A	34927550	G	A	34927550	3	1	79	1	0	0	0	0	1	0	0	0	14976	1261	44	2	6023	2	SON	21	34927550	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4486	34927550	13202345	20580	30897											
CRYZL1	9946	broad.mit.edu	37	chr21	34997011	34997011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtatttatctggctcagaGcacaagctttaacttgaagt	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34997011G>A	ENST00000381554.3	-	3	207	c.122C>T	c.(121-123)gCt>gTt	p.A41V	CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V|CRYZL1_ENST00000361534.2_Missense_Mutation_p.A65V|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	41					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CTGGCTCAGAGCACAAGCTTT	0.308																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(193-195)gCt>gTt		crystallin, zeta (quinone reductase)-like 1							102	102	102					21																	34997011		2202	4300	6502	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34997011G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"quinone reductase-like 1"	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.122C>T	21.37:g.34997011G>A	ENSP00000370966:p.Ala41Val					AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Missense_Mutation_p.A41V|CRYZL1_ENST00000445393.1_Missense_Mutation_p.A41V|CRYZL1_ENST00000381554.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000381540.3_Missense_Mutation_p.A41V|CRYZL1_ENST00000290244.5_Missense_Mutation_p.A41V	p.A65V			O95825	QORL1_HUMAN			4	333	-			41					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.194C>T	CCDS13633.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982314	0.74474	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000431177;ENST00000413017	T;T;T;T;T;T;T	0.50548	3.45;0.74;3.45;0.74;3.45;3.45;3.45	5.05	5.05	0.67936	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.176366	0.48286	D	0.000196	T	0.72153	0.3425	M	0.90082	3.085	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.66084	0.941;0.941;0.941	T	0.78478	-0.2188	10	0.72032	D	0.01	-21.5229	14.2943	0.66302	0.0:0.0:1.0:0.0	.	41;41;65	O95825;A6NND8;A6NHJ8	QORL1_HUMAN;.;.	V	41;41;41;41;65;41;41;41	ENSP00000370966:A41V;ENSP00000290244:A41V;ENSP00000370951:A41V;ENSP00000399730:A41V;ENSP00000355075:A65V;ENSP00000405510:A41V;ENSP00000389209:A41V	ENSP00000290244:A41V	A	-	2	0	CRYZL1	33918881	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.861000	0.56002	2.503000	0.84419	0.591000	0.81541	GCT		0.308	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		47	242	0	0	0	1	0	47	242					A	34997011	G	A	34997011	3	1	79	1	0	0	0	0	1	0	0	0	3932	971	34	2	971	2	CRYZL1	21	34997011	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69461	34997011	13132884	20581	30898											
ITSN1	6453	broad.mit.edu	37	chr21	35094941	35094941	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atctgggttacctcaacctgTtttagcacagatatggtaag	9	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35094941T>C	ENST00000381318.3	+	4	458	c.170T>C	c.(169-171)gTt>gCt	p.V57A	ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCTCAACCTGTTTTAGCACAG	0.279																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(169-171)gTt>gCt		intersectin 1 (SH3 domain protein)							68	72	71					21																	35094941		2202	4295	6497	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35094941T>C	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.170T>C	21.37:g.35094941T>C	ENSP00000370719:p.Val57Ala					ITSN1_ENST00000399355.2_Missense_Mutation_p.V57A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399353.1_Missense_Mutation_p.V57A|ITSN1_ENST00000399349.1_Missense_Mutation_p.V57A|ITSN1_ENST00000437442.2_Missense_Mutation_p.V57A|ITSN1_ENST00000399326.3_Missense_Mutation_p.V57A|ITSN1_ENST00000381285.4_Missense_Mutation_p.V57A|ITSN1_ENST00000381291.4_Missense_Mutation_p.V57A|ITSN1_ENST00000399367.3_Missense_Mutation_p.V57A|ITSN1_ENST00000379960.5_Missense_Mutation_p.V57A|ITSN1_ENST00000399338.4_Missense_Mutation_p.V57A	p.V57A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			4	458	+			57			EF-hand 1.|EH 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.170T>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594035	0.66219	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;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;1.59;1.59;1.59;1.59;1.59;1.59	5.9	5.9	0.94986	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.119758	0.56097	D	0.000027	T	0.55970	0.1954	M	0.75264	2.295	0.58432	D	0.999996	P;P;P;P;D;P;P;P;P	0.65815	0.528;0.528;0.528;0.528;0.995;0.528;0.528;0.719;0.528	P;B;B;B;D;B;B;P;B	0.68039	0.491;0.414;0.414;0.414;0.955;0.414;0.414;0.494;0.414	T	0.59984	-0.7351	10	0.87932	D	0	.	15.9811	0.80111	0.0:0.0:0.0:1.0	.	57;57;57;57;57;57;57;57;57	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	57	ENSP00000382290:V57A;ENSP00000400079:V57A;ENSP00000370719:V57A;ENSP00000370691:V57A;ENSP00000370685:V57A;ENSP00000382301:V57A;ENSP00000382289:V57A;ENSP00000382292:V57A;ENSP00000382286:V57A;ENSP00000407132:V57A;ENSP00000370683:V57A;ENSP00000382275:V57A;ENSP00000387377:V57A;ENSP00000382265:V57A;ENSP00000369294:V57A	ENSP00000369294:V57A	V	+	2	0	ITSN1	34016811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.331000	0.72929	2.248000	0.74166	0.459000	0.35465	GTT		0.279	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		55	151	0	0	0	1	0	55	151					C	35094941	T	C	35094941	3	2	79	1	0	0	0	0	1	0	0	0	7956	1725	60	4	180	4	ITSN1	21	35094941	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97930	35094941	13034954	20582	30899											
ITSN1	6453	broad.mit.edu	37	chr21	35191585	35191585	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtcctgctagtctaaagCgagtagcctctccagcagcc	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35191585C>T	ENST00000381318.3	+	24	3262	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	992					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						TAGTCTAAAGCGAGTAGCCTC	0.423																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2974-2976)Cga>Tga		intersectin 1 (SH3 domain protein)							54	57	56					21																	35191585		2203	4300	6503	SO:0001587	stop_gained	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35191585C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2974C>T	21.37:g.35191585C>T	ENSP00000370719:p.Arg992*					ITSN1_ENST00000399352.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000437442.2_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381291.4_Nonsense_Mutation_p.R992*|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399353.1_Nonsense_Mutation_p.R950*|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Nonsense_Mutation_p.R987*|ITSN1_ENST00000399355.2_Nonsense_Mutation_p.R992*|ITSN1_ENST00000399326.3_Nonsense_Mutation_p.R987*|ITSN1_ENST00000381285.4_Nonsense_Mutation_p.R992*	p.R992*	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			24	3262	+			992					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Nonsense_Mutation	SNP	ENST00000381318.3	37	c.2974C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	44	10.875900	0.99482	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442;ENST00000399326	.	.	.	5.56	3.17	0.36434	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4925	0.55907	0.7237:0.2763:0.0:0.0	.	.	.	.	X	950;992;992;992;992;987;987;987;992;987;987;987	.	ENSP00000370685:R992X	R	+	1	2	ITSN1	34113455	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	2.377000	0.44300	0.384000	0.24942	-0.500000	0.04577	CGA		0.423	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		20	201	0	0	0	1	0	20	201					T	35191585	C	T	35191585	4	4	79	1	0	0	0	0	0	1	0	0	7956	760	27	1	3064	1	ITSN1	21	35191585	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96644	35191585	12938310	20583	30900											
ITSN1	6453	broad.mit.edu	37	chr21	35202044	35202044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatggtgggaaggagagCtgcaagtcagtgtctttttt	16	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35202044C>T	ENST00000381318.3	+	27	3634	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000399353.1_Silent_p.L1074L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000381285.4_Silent_p.L1116L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399349.1_Silent_p.L1040L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1116	SH3 4. {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						GGAAGGAGAGCTGCAAGTCAG	0.463																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3346-3348)Ctg>Ttg		intersectin 1 (SH3 domain protein)							101	111	108					21																	35202044		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35202044C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3346C>T	21.37:g.35202044C>T						ITSN1_ENST00000399352.1_Silent_p.L1111L|ITSN1_ENST00000437442.2_Silent_p.L1111L|ITSN1_ENST00000381291.4_Silent_p.L1116L|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Silent_p.L1111L|ITSN1_ENST00000399353.1_Silent_p.L1074L|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Silent_p.L1040L|ITSN1_ENST00000399355.2_Silent_p.L1045L|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.L1116L	p.L1116L	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			27	3634	+			1116			SH3 4.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3346C>T	CCDS33545.1																																																																																				0.463	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		100	407	0	0	0	1	0	100	407					T	35202044	C	T	35202044	2	4	79	1	0	0	0	0	0	0	0	1	7956	796	28	2		2	ITSN1	21	35202044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10459	35202044	12927851	20584	30901											
ITSN1	6453	broad.mit.edu	37	chr21	35208915	35208915	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attatgtgaagctgaccacaGacatggacccaagccagcaa	9	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35208915G>T	ENST00000381318.3	+	29	3928	c.3640G>T	c.(3640-3642)Gac>Tac	p.D1214Y	ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1214	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)	p.D1214H(1)		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						GCTGACCACAGACATGGACCC	0.522																																						ENST00000381318.3																			1	Substitution - Missense(1)	p.D1214H(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3640-3642)Gac>Tac		intersectin 1 (SH3 domain protein)							104	94	98					21																	35208915		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35208915G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3640G>T	21.37:g.35208915G>T	ENSP00000370719:p.Asp1214Tyr					ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209Y|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214Y|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143Y|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214Y	p.D1214Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			29	3928	+			1214			SH3 5.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3640G>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446412	0.63178	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000437442	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.51	4.51	0.55191	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	L	0.41824	1.3	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.981;1.0;0.994;1.0;0.999;0.998;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.954;0.986;0.994;0.968;0.927;0.996;0.998	T	0.52653	-0.8547	10	0.87932	D	0	.	17.2445	0.87023	0.0:0.0:1.0:0.0	.	1106;1177;1101;1209;1143;1209;1214;1138;1172	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	Y	1172;1214;1214;1214;1143;1209;1209;1143;1138;1209	ENSP00000382290:D1172Y;ENSP00000370719:D1214Y;ENSP00000370691:D1214Y;ENSP00000370685:D1214Y;ENSP00000382301:D1209Y;ENSP00000382289:D1209Y;ENSP00000382292:D1143Y;ENSP00000382286:D1138Y;ENSP00000387377:D1209Y	ENSP00000370685:D1214Y	D	+	1	0	ITSN1	34130785	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.268000	0.95675	2.059000	0.61396	0.637000	0.83480	GAC		0.522	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		24	339	1	0	3.28513e-13	1	3.54196e-13	24	339					T	35208915	G	T	35208915	3	4	79	1	0	0	0	0	1	0	0	0	7956	942	33	3	3750	3	ITSN1	21	35208915	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6871	35208915	12920980	20585	30902											
ITSN1	6453	broad.mit.edu	37	chr21	35237530	35237530	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagacatcctgagcgcacaGctgccgcacatgcagcccta	11	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35237530G>T	ENST00000381318.3	+	32	4254	c.3966G>T	c.(3964-3966)caG>caT	p.Q1322H	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1322	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGAGCGCACAGCTGCCGCACA	0.602																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3964-3966)caG>caT		intersectin 1 (SH3 domain protein)							50	38	42					21																	35237530		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35237530G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3966G>T	21.37:g.35237530G>T	ENSP00000370719:p.Gln1322His					ITSN1_ENST00000437442.2_Missense_Mutation_p.Q1317H|ITSN1_ENST00000399367.3_Missense_Mutation_p.Q1317H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.Q1322H	p.Q1322H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			32	4254	+			1322			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3966G>T	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.784119|3.784119	0.70222|0.70222	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.27557	.|1.66;1.66;1.66;1.66	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39682|0.39682	0.1087|0.1087	N|N	0.10874|0.10874	0.06|0.06	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;0.98;0.98	T|T	0.41980|0.41980	-0.9478|-0.9478	5|10	.|0.40728	.|T	.|0.16	.|.	20.0079|20.0079	0.97439|0.97439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1317;1317;1322	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	S|H	58|1322;1322;1251;1317;1317	.|ENSP00000370719:Q1322H;ENSP00000370685:Q1322H;ENSP00000382301:Q1317H;ENSP00000387377:Q1317H	.|ENSP00000370685:Q1322H	A|Q	+|+	1|3	0|2	ITSN1|ITSN1	34159400|34159400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.750000|0.750000	0.42670|0.42670	5.200000|5.200000	0.65158|0.65158	2.726000|2.726000	0.93360|0.93360	0.561000|0.561000	0.74099|0.74099	GCT|CAG		0.602	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		20	117	1	0	2.94398e-08	1	3.0722e-08	20	117					T	35237530	G	T	35237530	3	4	79	1	0	0	0	0	1	0	0	0	7956	962	34	3	4094	3	ITSN1	21	35237530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28615	35237530	12892365	20586	30903											
ITSN1	6453	broad.mit.edu	37	chr21	35247768	35247768	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaaggggtgcgggagaaggaGaactctgaccggctggagtg	20	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35247768G>T	ENST00000381318.3	+	34	4572	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1428					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						GGGAGAAGGAGAACTCTGACC	0.637																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4282-4284)gaG>gaT		intersectin 1 (SH3 domain protein)							96	87	90					21																	35247768		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35247768G>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4284G>T	21.37:g.35247768G>T	ENSP00000370719:p.Glu1428Asp					ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1423D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1428D	p.E1428D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			34	4572	+			1428					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4284G>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985555	0.74589	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000415023	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.59	3.79	0.43588	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	L	0.61387	1.9	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.44990	0.466;0.466	T	0.28170	-1.0052	10	0.46703	T	0.11	.	9.1763	0.37114	0.2853:0.0:0.7147:0.0	.	1423;1428	A8CTX8;Q15811	.;ITSN1_HUMAN	D	1428;1428;1357;1423;35	ENSP00000370719:E1428D;ENSP00000370685:E1428D;ENSP00000382301:E1423D;ENSP00000409800:E35D	ENSP00000370685:E1428D	E	+	3	2	ITSN1	34169638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.788000	0.26872	0.717000	0.32145	0.655000	0.94253	GAG		0.637	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		93	382	1	0	1.2711e-46	1	1.5624e-46	93	382					T	35247768	G	T	35247768	3	4	79	1	0	0	0	0	1	0	0	0	7956	933	33	3	4420	3	ITSN1	21	35247768	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10238	35247768	12882127	20587	30904											
ITSN1	6453	broad.mit.edu	37	chr21	35254750	35254750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacctgcagtataaaatGtataaaacagtaagttggat	7	5	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35254750G>A	ENST00000381318.3	+	35	4833	c.4545G>A	c.(4543-4545)atG>atA	p.M1515I	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1515	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						AGTATAAAATGTATAAAACAG	0.433																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4543-4545)atG>atA		intersectin 1 (SH3 domain protein)							47	48	48					21																	35254750		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35254750G>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4545G>A	21.37:g.35254750G>A	ENSP00000370719:p.Met1515Ile					ITSN1_ENST00000437442.2_Missense_Mutation_p.M1454I|ITSN1_ENST00000399367.3_Missense_Mutation_p.M1510I|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.M1515I	p.M1515I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			35	4833	+			1515			PH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4545G>A	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.033321|4.033321	0.75504|0.75504	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442|ENST00000381284	T;T;T;T|.	0.61859|.	0.07;0.07;0.07;0.07|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73552|0.73552	0.3601|0.3601	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61080|.	0.989;0.943;0.943|.	D;D;D|.	0.75020|.	0.985;0.968;0.968|.	T|T	0.69343|0.69343	-0.5170|-0.5170	9|5	.|.	.|.	.|.	.|.	20.0545|20.0545	0.97645|0.97645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1454;1510;1515|.	A8CTY3;A8CTX8;Q15811|.	.;.;ITSN1_HUMAN|.	I|I	1515;1515;1444;1510;1454|195	ENSP00000370719:M1515I;ENSP00000370685:M1515I;ENSP00000382301:M1510I;ENSP00000387377:M1454I|.	.|.	M|V	+|+	3|1	0|0	ITSN1|ITSN1	34176620|34176620	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.433000|7.433000	0.80362|0.80362	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.433	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		41	159	0	0	0	1	0	41	159					A	35254750	G	A	35254750	3	1	79	1	0	0	0	0	1	0	0	0	7956	1377	48	2	4685	2	ITSN1	21	35254750	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6982	35254750	12875145	20588	30905											
SLC5A3	6526	broad.mit.edu	37	chr21	35467703	35467703	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacttcattgggctggCaggatctggagctgcaagtg	15	8	2	1	rs370576963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	ENST00000381151.3	+	2	718	c.206C>T	c.(205-207)gCa>gTa	p.A69V	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A69V|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	69					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						ATTGGGCTGGCAGGATCTGGA	0.498																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(205-207)gCa>gTa		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3		C	VAL/ALA,	0,4406		0,0,2203	137	130	132		206,	5.9	1	21		132	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	SLC5A3,MRPS6	NM_006933.4,NM_032476.3	64,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,	69/719,	35467703	1,13005	2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467703C>T		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.206C>T	21.37:g.35467703C>T	ENSP00000370543:p.Ala69Val					MRPS6_ENST00000399312.2_Intron	p.A69V	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	718	+			69					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.206C>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004086	0.74932	0.0	1.16E-4	ENSG00000198743	ENST00000381151	D	0.90788	-2.73	5.92	5.92	0.95590	.	0.053770	0.64402	D	0.000001	D	0.96537	0.8870	M	0.91561	3.22	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96820	0.9603	10	0.87932	D	0	.	18.8931	0.92413	0.0:1.0:0.0:0.0	.	69	P53794	SC5A3_HUMAN	V	69	ENSP00000370543:A69V	ENSP00000370543:A69V	A	+	2	0	SLC5A3	34389573	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.810000	0.86072	2.805000	0.96524	0.609000	0.83330	GCA		0.498	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			25	446	0	0	0	1	0	25	446					T	35467703	C	T	35467703	3	4	79	1	0	0	0	0	1	0	0	0	14716	710	25	2	208	2	SLC5A3	21	35467703	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212953	35467703	12662192	20589	30906											
SLC5A3	6526	broad.mit.edu	37	chr21	35469406	35469406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttactccaatgggcaagcaGctctcatgggtgagaaagag	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	ENST00000381151.3	+	2	2421	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Missense_Mutation_p.A637S|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	637					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						TGGGCAAGCAGCTCTCATGGG	0.478																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1909-1911)Gct>Tct		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							82	76	78					21																	35469406		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35469406G>T		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.1909G>T	21.37:g.35469406G>T	ENSP00000370543:p.Ala637Ser					MRPS6_ENST00000399312.2_Intron	p.A637S	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	2421	+			637					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1909G>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163213	0.38217	.	.	ENSG00000198743	ENST00000381151	D	0.85861	-2.04	6.06	5.18	0.71444	.	0.480265	0.18467	N	0.140345	T	0.76133	0.3945	N	0.22421	0.69	0.30363	N	0.783593	B	0.12013	0.005	B	0.14023	0.01	T	0.66991	-0.5783	10	0.18710	T	0.47	.	14.7718	0.69684	0.0693:0.0:0.9307:0.0	.	637	P53794	SC5A3_HUMAN	S	637	ENSP00000370543:A637S	ENSP00000370543:A637S	A	+	1	0	SLC5A3	34391276	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	5.336000	0.65935	1.582000	0.49881	0.643000	0.83706	GCT		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			37	388	1	0	1.69901e-12	1	1.82497e-12	37	388					T	35469406	G	T	35469406	3	4	79	1	0	0	0	0	1	0	0	0	14716	971	34	3	1911	3	SLC5A3	21	35469406	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1703	35469406	12660489	20590	30907											
KCNE2	9992	broad.mit.edu	37	chr21	35742840	35742840	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccgaaggatttttattacTtatatggacaattggcgcca	8	7	0	0	rs138954752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	ENST00000290310.3	+	2	203	c.63T>G	c.(61-63)acT>acG	p.T21T	AP000320.6_ENST00000440403.1_RNA	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	21					aging (GO:0007568)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular protein localization (GO:0034613)|cellular response to drug (GO:0035690)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|positive regulation of proteasomal protein catabolic process (GO:1901800)|potassium ion export (GO:0071435)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of cyclic nucleotide-gated ion channel activity (GO:1902159)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of inward rectifier potassium channel activity (GO:1901979)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|tongue development (GO:0043586)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			endometrium(1)|large_intestine(1)	2						TTTTTATTACTTATATGGACA	0.433																																						ENST00000290310.2																			0				endometrium(1)|large_intestine(1)	2						c.(61-63)acT>acG		potassium voltage-gated channel, Isk-related family, member 2							99	107	105					21																	35742840		2203	4300	6503	SO:0001819	synonymous_variant	0				blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr21:35742840T>G	AF071002	CCDS13635.1	21q22.1	2014-09-17			ENSG00000159197	ENSG00000159197		"Potassium channels"	6242	protein-coding gene	gene with protein product		603796				10219239	Standard	NM_172201		Approved	MiRP1, LQT6	uc002ytt.1	Q9Y6J6	OTTHUMG00000086189	ENST00000290310.3:c.63T>G	21.37:g.35742840T>G							p.T21T	NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN			2	203	+			21					A5H1P3|D3DSF8|Q52LJ5	Silent	SNP	ENST00000290310.3	37	c.63T>G	CCDS13635.1																																																																																				0.433	KCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194068.2			51	416	0	0	0	1	0	51	416					G	35742840	T	G	35742840	2	3	79	1	0	0	0	0	0	0	0	1	8053	1596	56	4		4	KCNE2	21	35742840	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	273434	35742840	12387055	20591	30908											
KCNE1	3753	broad.mit.edu	37	chr21	35821672	35821672	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccttgtccttctcttgCcaggcatcggactcgatgta	10	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35821672C>T	ENST00000337385.3	-	3	636	c.261G>A	c.(259-261)tgG>tgA	p.W87*	KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	87			W -> R (in LQT5). {ECO:0000269|PubMed:10400998}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CCTTCTCTTGCCAGGCATCGG	0.552																																						ENST00000337385.3																			0				large_intestine(4)|lung(1)|ovary(2)	7						c.(259-261)tgG>tgA		potassium voltage-gated channel, Isk-related family, member 1	Indapamide(DB00808)						96	95	96					21																	35821672		2203	4300	6503	SO:0001587	stop_gained	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821672C>T	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"Potassium channels"	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.261G>A	21.37:g.35821672C>T	ENSP00000337255:p.Trp87*					KCNE1_ENST00000432085.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399289.3_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399286.2_Nonsense_Mutation_p.W87*|KCNE1_ENST00000399284.1_Nonsense_Mutation_p.W87*|KCNE1_ENST00000416357.2_Nonsense_Mutation_p.W87*	p.W87*	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN			3	636	-			87		W -> R (in LQT5).			A5H1P2|Q8N709|Q91Z94	Nonsense_Mutation	SNP	ENST00000337385.3	37	c.261G>A	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735347	0.89482	.	.	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2752	18.2469	0.89989	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000337255:W87X	W	-	3	0	KCNE1	34743542	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.189000	0.72051	2.398000	0.81561	0.591000	0.81541	TGG		0.552	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1			92	321	0	0	0	1	0	92	321					T	35821672	C	T	35821672	4	4	79	1	0	0	0	0	0	1	0	0	8051	740	26	2	132	2	KCNE1	21	35821672	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	78832	35821672	12308223	20592	30909											
RCAN1	1827	broad.mit.edu	37	chr21	35890400	35890400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcagctgaggtggatcggCgtgtactccggcctcctggt	15	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35890400C>T	ENST00000313806.4	-	4	871	c.741G>A	c.(739-741)acG>acA	p.T247T	RCAN1_ENST00000481448.1_Silent_p.T237T|RCAN1_ENST00000381135.3_Silent_p.T237T|RCAN1_ENST00000381132.2_Silent_p.T192T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000482533.1_Silent_p.T112T	NM_004414.5	NP_004405.3	P53805	RCAN1_HUMAN	regulator of calcineurin 1	247					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						GGTGGATCGGCGTGTACTCCG	0.498																																						ENST00000481448.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(709-711)acG>acA		regulator of calcineurin 1							178	157	164					21																	35890400		2203	4300	6503	SO:0001819	synonymous_variant	1827				blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:35890400C>T		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.741G>A	21.37:g.35890400C>T						RCAN1_ENST00000399272.1_Silent_p.T166T|RCAN1_ENST00000313806.4_Silent_p.T247T|RCAN1_ENST00000381135.3_Silent_p.T237T|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Silent_p.T112T|RCAN1_ENST00000487990.1_Silent_p.T112T|RCAN1_ENST00000482533.1_Silent_p.T112T|RCAN1_ENST00000381132.2_Silent_p.T192T	p.T237T			P53805	RCAN1_HUMAN			5	1197	-			247					D3DSF9|O00582|O00583|Q53XT0|Q6IBC6|Q7Z555|Q96R03|Q9BU69|Q9UF15|Q9UME4	Silent	SNP	ENST00000313806.4	37	c.711G>A	CCDS13637.1																																																																																				0.498	RCAN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194142.1			40	679	0	0	0	1	0	40	679					T	35890400	C	T	35890400	2	4	79	1	0	0	0	0	0	0	0	1	13218	755	27	1		1	RCAN1	21	35890400	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	68728	35890400	12239495	20593	30910											
CLIC6	54102	broad.mit.edu	37	chr21	36088748	36088748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcaagagattgaacacGcatattcagatgttgcaaaa	8	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:36088748G>A	ENST00000360731.3	+	7	2083	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	695	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATTGAACACGCATATTCAGA	0.378																																						ENST00000360731.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(2083-2085)Gca>Aca		chloride intracellular channel 6							118	114	115					21																	36088748		2203	4300	6503	SO:0001583	missense	54102					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	g.chr21:36088748G>A	AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"Ion channels / Chloride channels : Intracellular"	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.2083G>A	21.37:g.36088748G>A	ENSP00000353959:p.Ala695Thr					CLIC6_ENST00000349499.2_Missense_Mutation_p.A677T	p.A695T			Q96NY7	CLIC6_HUMAN			7	2083	+			695			GST C-terminal.		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37	c.2083G>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.339592	0.81911	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.94092	-3.35;-3.35	5.85	5.85	0.93711	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.96494	0.9366	10	0.59425	D	0.04	-12.539	20.1542	0.98100	0.0:0.0:1.0:0.0	.	695;677	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	T	695;677	ENSP00000353959:A695T;ENSP00000290332:A677T	ENSP00000290332:A677T	A	+	1	0	CLIC6	35010618	1.000000	0.71417	0.270000	0.24601	0.967000	0.64934	9.835000	0.99442	2.767000	0.95098	0.563000	0.77884	GCA		0.378	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			87	228	0	0	0	1	0	87	228					A	36088748	G	A	36088748	3	1	79	1	0	0	0	0	1	0	0	0	3539	1087	38	1	2051	1	CLIC6	21	36088748	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	198348	36088748	12041147	20594	30911											
SETD4	54093	broad.mit.edu	37	chr21	37410520	37410520	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctatgtccaaacttgtcttCtcattcgtatctgaaattac	5	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37410520C>T	ENST00000399215.1	-	9	2488	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Silent_p.E348E|SETD4_ENST00000332131.4_Silent_p.E372E			Q9NVD3	SETD4_HUMAN	SET domain containing 4	372				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						AACTTGTCTTCTCATTCGTAT	0.353																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(1114-1116)gaG>gaA		SET domain containing 4							178	173	175					21																	37410520		2202	4300	6502	SO:0001819	synonymous_variant	54093							g.chr21:37410520C>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1116G>A	21.37:g.37410520C>T						SETD4_ENST00000332131.4_Silent_p.E372E|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Silent_p.E348E	p.E372E			Q9NVD3	SETD4_HUMAN			9	2488	-			372	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	c.1116G>A	CCDS13640.1																																																																																				0.353	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		58	510	0	0	0	1	0	58	510					T	37410520	C	T	37410520	2	4	79	1	0	0	0	0	0	0	0	1	14183	912	32	2		2	SETD4	21	37410520	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1321772	37410520	10719375	20595	30912											
SETD4	54093	broad.mit.edu	37	chr21	37416128	37416128	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attatggacagaaacaaatcCgtattccaggaacagccgtt	8	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37416128C>A	ENST00000399215.1	-	6	2225	c.853G>T	c.(853-855)Gga>Tga	p.G285*	SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*			Q9NVD3	SETD4_HUMAN	SET domain containing 4	285							methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GAAACAAATCCGTATTCCAGG	0.378																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(853-855)Gga>Tga		SET domain containing 4							117	98	104					21																	37416128		2203	4300	6503	SO:0001587	stop_gained	54093							g.chr21:37416128C>A	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.853G>T	21.37:g.37416128C>A	ENSP00000382163:p.Gly285*					SETD4_ENST00000332131.4_Nonsense_Mutation_p.G285*|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399201.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399208.2_Nonsense_Mutation_p.G285*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399207.1_Nonsense_Mutation_p.G285*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.G261*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.G261*	p.G285*			Q9NVD3	SETD4_HUMAN			6	2225	-			285					B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Nonsense_Mutation	SNP	ENST00000399215.1	37	c.853G>T	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	48	13.959075	0.99772	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131;ENST00000399205;ENST00000399208;ENST00000399201;ENST00000399207	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.3083	19.7767	0.96398	0.0:1.0:0.0:0.0	.	.	.	.	X	285;261;285;261;285;261;285	.	ENSP00000329189:G285X	G	-	1	0	SETD4	36337998	1.000000	0.71417	0.821000	0.32701	0.067000	0.16453	6.948000	0.75965	2.751000	0.94390	0.555000	0.69702	GGA		0.378	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		17	211	1	0	1.5739e-10	1	1.67034e-10	17	211					A	37416128	C	A	37416128	4	1	79	1	0	0	0	0	0	1	0	0	14183	661	23	3	512	3	SETD4	21	37416128	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5608	37416128	10713767	20596	30913											
SETD4	54093	broad.mit.edu	37	chr21	37420647	37420647	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagcttcgaatcactgtgtcCgtggtgagcaggcaactctc	11	11	2	1	rs200791231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37420647C>T	ENST00000399215.1	-	4	1627	c.255G>A	c.(253-255)acG>acA	p.T85T	SETD4_ENST00000399207.1_Silent_p.T85T|SETD4_ENST00000399205.1_Silent_p.T61T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T			Q9NVD3	SETD4_HUMAN	SET domain containing 4	85	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCACTGTGTCCGTGGTGAGCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		16075	0.0		0.0	False		,,,				2504	0.001					ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(253-255)acG>acA		SET domain containing 4							373	309	331					21																	37420647		2203	4300	6503	SO:0001819	synonymous_variant	54093							g.chr21:37420647C>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.255G>A	21.37:g.37420647C>T						SETD4_ENST00000332131.4_Silent_p.T85T|SETD4_ENST00000399201.1_Silent_p.T61T|SETD4_ENST00000399208.2_Silent_p.T85T|SETD4_ENST00000481477.1_Intron|SETD4_ENST00000399207.1_Silent_p.T85T|SETD4_ENST00000399212.1_Silent_p.T61T|SETD4_ENST00000399205.1_Silent_p.T61T	p.T85T			Q9NVD3	SETD4_HUMAN			4	1627	-			85			SET.		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	c.255G>A	CCDS13640.1																																																																																				0.478	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		124	1088	0	0	0	1	0	124	1088					T	37420647	C	T	37420647	2	4	79	1	0	0	0	0	0	0	0	1	14183	639	23	1		1	SETD4	21	37420647	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4519	37420647	10709248	20597	30914											
DOPEY2	9980	broad.mit.edu	37	chr21	37617678	37617678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttctcctccccttcccacGacctgcaggagctgagcaac	7	19	1	1	rs573603717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617678G>A	ENST00000399151.3	+	19	3485	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1134					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						CCCTTCCCACGACCTGCAGGA	0.662																																						ENST00000399151.3																			0				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						c.(3400-3402)Gac>Aac		dopey family member 2							124	85	98					21																	37617678		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617678G>A	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.3400G>A	21.37:g.37617678G>A	ENSP00000382104:p.Asp1134Asn						p.D1134N	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3485	+			1134					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3400G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432271	0.43122	.	.	ENSG00000142197	ENST00000399151	T	0.28666	1.6	5.55	2.74	0.32292	.	0.476618	0.26227	N	0.025593	T	0.25938	0.0632	L	0.50333	1.59	0.35569	D	0.805348	B;B	0.20550	0.046;0.027	B;B	0.11329	0.006;0.003	T	0.16867	-1.0388	10	0.59425	D	0.04	.	8.2768	0.31877	0.1344:0.0:0.7372:0.1284	.	1134;1134	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	1134	ENSP00000382104:D1134N	ENSP00000382104:D1134N	D	+	1	0	DOPEY2	36539548	0.998000	0.40836	0.432000	0.26747	0.858000	0.48976	2.887000	0.48586	0.385000	0.24970	0.650000	0.86243	GAC		0.662	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		86	304	0	0	0	1	0	86	304					A	37617678	G	A	37617678	3	1	79	1	0	0	0	0	1	0	0	0	4724	1058	37	1	3470	1	DOPEY2	21	37617678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197031	37617678	10512217	20598	30915											
DOPEY2	9980	broad.mit.edu	37	chr21	37617780	37617780	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgctggcggccttccagtcaGaaagcttcaaggctggggcc	14	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617780G>A	ENST00000399151.3	+	19	3587	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1168					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						CTTCCAGTCAGAAAGCTTCAA	0.637																																						ENST00000399151.3																			0				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						c.(3502-3504)Gaa>Aaa		dopey family member 2							36	40	38					21																	37617780		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617780G>A	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.3502G>A	21.37:g.37617780G>A	ENSP00000382104:p.Glu1168Lys						p.E1168K	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3587	+			1168					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.3502G>A	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	6.407	0.443183	0.12164	.	.	ENSG00000142197	ENST00000399151	T	0.32988	1.43	4.61	3.65	0.41850	.	0.412728	0.20393	N	0.093212	T	0.18130	0.0435	L	0.36672	1.1	0.09310	N	1	B;B	0.32753	0.383;0.265	B;B	0.26770	0.073;0.033	T	0.11916	-1.0568	10	0.10111	T	0.7	.	9.0698	0.36486	0.0813:0.1495:0.7692:0.0	.	1168;1168	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	K	1168	ENSP00000382104:E1168K	ENSP00000382104:E1168K	E	+	1	0	DOPEY2	36539650	0.790000	0.28787	0.010000	0.14722	0.014000	0.08584	2.759000	0.47573	2.575000	0.86900	0.650000	0.86243	GAA		0.637	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		58	232	0	0	0	1	0	58	232					A	37617780	G	A	37617780	3	1	79	1	0	0	0	0	1	0	0	0	4724	943	33	2	3572	2	DOPEY2	21	37617780	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	102	37617780	10512115	20599	30916											
DOPEY2	9980	broad.mit.edu	37	chr21	37617836	37617836	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggactcggacaagacGcaggcttctgagtcgttctc	14	11	2	2	rs529578047		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617836G>A	ENST00000399151.3	+	19	3643	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1186					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						CGGACAAGACGCAGGCTTCTG	0.642																																						ENST00000399151.3																			0				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						c.(3556-3558)acG>acA		dopey family member 2							38	40	40					21																	37617836		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37617836G>A	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.3558G>A	21.37:g.37617836G>A							p.T1186T	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			19	3643	+			1186					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.3558G>A	CCDS13643.1																																																																																				0.642	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		52	213	0	0	0	1	0	52	213					A	37617836	G	A	37617836	2	1	79	1	0	0	0	0	0	0	0	1	4724	1074	38	1		1	DOPEY2	21	37617836	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56	37617836	10512059	20600	30917											
DOPEY2	9980	broad.mit.edu	37	chr21	37620829	37620829	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgatctcctaggggccaCgaagggatcctcttccgttt	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37620829C>T	ENST00000399151.3	+	21	5046	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1654					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						CTAGGGGCCACGAAGGGATCC	0.448																																						ENST00000399151.3																			0				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						c.(4960-4962)aCg>aTg		dopey family member 2							86	79	82					21																	37620829		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37620829C>T	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.4961C>T	21.37:g.37620829C>T	ENSP00000382104:p.Thr1654Met						p.T1654M	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			21	5046	+			1654					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.4961C>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	C	3.559	-0.089986	0.07053	.	.	ENSG00000142197	ENST00000399151	T	0.12774	2.65	5.46	3.66	0.41972	.	0.301120	0.41294	N	0.000907	T	0.14184	0.0343	L	0.57536	1.79	0.09310	N	0.999994	B;B	0.22851	0.076;0.046	B;B	0.20577	0.03;0.013	T	0.16453	-1.0402	10	0.49607	T	0.09	-11.577	8.6367	0.33953	0.0:0.769:0.0:0.231	.	1654;1654	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	1654	ENSP00000382104:T1654M	ENSP00000382104:T1654M	T	+	2	0	DOPEY2	36542699	0.856000	0.29760	0.029000	0.17559	0.033000	0.12548	1.698000	0.37794	0.697000	0.31718	0.650000	0.86243	ACG		0.448	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		60	223	0	0	0	1	0	60	223					T	37620829	C	T	37620829	3	4	79	1	0	0	0	0	1	0	0	0	4724	536	19	1	5039	1	DOPEY2	21	37620829	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2993	37620829	10509066	20601	30918											
MORC3	23515	broad.mit.edu	37	chr21	37717329	37717329	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagttggatgtcagttaagGgtaagctttattttttattt	9	2	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37717329G>T	ENST00000400485.1	+	8	1081	c.1005G>T	c.(1003-1005)agG>agT	p.R335S	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	335					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						GTCAGTTAAGGGTAAGCTTTA	0.284																																						ENST00000400485.1																			0				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						c.e8+1		MORC family CW-type zinc finger 3							67	66	66					21																	37717329		1805	4070	5875	SO:0001630	splice_region_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37717329G>T	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.1005+1G>T	21.37:g.37717329G>T						MORC3_ENST00000487909.1_3'UTR	p.R335_splice	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			8	1081	+			335					A8KA92|Q9UEZ2	Splice_Site	SNP	ENST00000400485.1	37	c.1005_splice	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010232	0.75046	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	5.51	5.51	0.81932	.	0.299915	0.40640	N	0.001045	T	0.09291	0.0229	N	0.04508	-0.205	0.80722	D	1	B	0.23185	0.081	B	0.21546	0.035	T	0.29427	-1.0012	10	0.62326	D	0.03	-11.3544	19.4173	0.94706	0.0:0.0:1.0:0.0	.	335	Q14149	MORC3_HUMAN	S	335	ENSP00000383333:R335S	ENSP00000383333:R335S	R	+	3	2	MORC3	36639199	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.798000	0.85924	2.588000	0.87417	0.655000	0.94253	AGG		0.284	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	Missense_Mutation	8	173	1	0	0.00448238	1	0.00451339	8	173					T	37717329	G	T	37717329	5	4	79	1	0	0	0	0	0	0	1	0	9744	1246	43	3	1035	3	MORC3	21	37717329	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	96500	37717329	10412566	20602	30919											
MORC3	23515	broad.mit.edu	37	chr21	37741529	37741529	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacagtgaaccttgtggccaGactggttcaacaagcacctc	10	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37741529G>A	ENST00000400485.1	+	15	1939	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	621					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						CTTGTGGCCAGACTGGTTCAA	0.453																																						ENST00000400485.1																			0				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						c.(1861-1863)caG>caA		MORC family CW-type zinc finger 3							223	221	222					21																	37741529		2154	4253	6407	SO:0001819	synonymous_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741529G>A	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.1863G>A	21.37:g.37741529G>A						MORC3_ENST00000487909.1_3'UTR	p.Q621Q	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	1939	+			621					A8KA92|Q9UEZ2	Silent	SNP	ENST00000400485.1	37	c.1863G>A	CCDS42924.1																																																																																				0.453	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		105	396	0	0	0	1	0	105	396					A	37741529	G	A	37741529	2	1	79	1	0	0	0	0	0	0	0	1	9744	933	33	2		2	MORC3	21	37741529	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24200	37741529	10388366	20603	30920											
CHAF1B	8208	broad.mit.edu	37	chr21	37763902	37763902	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaggagccggagcagatcGcttttcaggatgaggacgag	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	ENST00000314103.5	+	4	464	c.313G>A	c.(313-315)Gct>Act	p.A105T	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	105					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						GGAGCAGATCGCTTTTCAGGA	0.517																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(313-315)Gct>Act		chromatin assembly factor 1, subunit B (p60)							116	100	105					21																	37763902		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37763902G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.313G>A	21.37:g.37763902G>A	ENSP00000315700:p.Ala105Thr					CHAF1B_ENST00000480486.1_3'UTR	p.A105T	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			4	464	+			105					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.313G>A	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932325	0.18131	.	.	ENSG00000159259	ENST00000314103	T	0.56275	0.47	5.18	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.481323	0.24363	N	0.039173	T	0.33585	0.0868	N	0.17764	0.52	0.22500	N	0.999043	B	0.10296	0.003	B	0.06405	0.002	T	0.14811	-1.0459	10	0.17832	T	0.49	-5.9072	9.6314	0.39782	0.0758:0.1408:0.7834:0.0	.	105	Q13112	CAF1B_HUMAN	T	105	ENSP00000315700:A105T	ENSP00000315700:A105T	A	+	1	0	CHAF1B	36685772	0.014000	0.17966	0.135000	0.22099	0.581000	0.36288	1.069000	0.30641	1.311000	0.45024	-0.126000	0.14955	GCT		0.517	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		22	162	0	0	0	1	0	22	162					A	37763902	G	A	37763902	3	1	79	1	0	0	0	0	1	0	0	0	3321	1087	38	1	323	1	CHAF1B	21	37763902	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22373	37763902	10365993	20604	30921											
CHAF1B	8208	broad.mit.edu	37	chr21	37769717	37769717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttttttgtaggacaAaagatatcaatttttaatga	7	2	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37769717A>G	ENST00000314103.5	+	6	637	c.486A>G	c.(484-486)caA>caG	p.Q162Q	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	162					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						TTGTAGGACAAAAGATATCAA	0.353																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(484-486)caA>caG		chromatin assembly factor 1, subunit B (p60)							46	48	47					21																	37769717		2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37769717A>G	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.486A>G	21.37:g.37769717A>G						CHAF1B_ENST00000480486.1_3'UTR	p.Q162Q	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			6	637	+			162					Q99548	Silent	SNP	ENST00000314103.5	37	c.486A>G	CCDS13644.1																																																																																				0.353	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		10	146	0	0	0	1	0	10	146					G	37769717	A	G	37769717	2	3	79	1	0	0	0	0	0	0	0	1	3321	11	1	4		4	CHAF1B	21	37769717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	5815	37769717	10360178	20605	30922											
CHAF1B	8208	broad.mit.edu	37	chr21	37781761	37781761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgaggccagtggtggaaaCaggtatcctcagagcctcag	13	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	ENST00000314103.5	+	10	1068	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	306					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						GTGGTGGAAACAGGTATCCTC	0.512																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(916-918)aCa>aTa		chromatin assembly factor 1, subunit B (p60)							183	168	173					21																	37781761		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37781761C>T	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.917C>T	21.37:g.37781761C>T	ENSP00000315700:p.Thr306Ile						p.T306I	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			10	1068	+			306					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.917C>T	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962404	0.34659	.	.	ENSG00000159259	ENST00000314103	T	0.55052	0.54	4.13	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.771278	0.12913	N	0.428808	T	0.47563	0.1452	L	0.58101	1.795	0.80722	D	1	B	0.25955	0.138	B	0.18263	0.021	T	0.48864	-0.8997	10	0.48119	T	0.1	-1.1091	10.2473	0.43350	0.3458:0.6542:0.0:0.0	.	306	Q13112	CAF1B_HUMAN	I	306	ENSP00000315700:T306I	ENSP00000315700:T306I	T	+	2	0	CHAF1B	36703631	0.954000	0.32549	0.960000	0.40013	0.910000	0.53928	2.047000	0.41269	2.283000	0.76528	0.563000	0.77884	ACA		0.512	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		224	766	0	0	0	1	0	224	766					T	37781761	C	T	37781761	3	4	79	1	0	0	0	0	1	0	0	0	3321	478	17	2	951	2	CHAF1B	21	37781761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12044	37781761	10348134	20606	30923											
HLCS	3141	broad.mit.edu	37	chr21	38132072	38132072	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgttgagttaaccAgaactccgccgatcttcatg	9	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38132072A>G	ENST00000399120.1	-	10	2981	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	HLCS_ENST00000336648.4_Missense_Mutation_p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	584	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGAGTTAACCAGAACTCCGCC	0.348																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1750-1752)cTg>cCg		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						101	105	104					21																	38132072		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38132072A>G		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1751T>C	21.37:g.38132072A>G	ENSP00000382071:p.Leu584Pro					HLCS_ENST00000336648.3_Missense_Mutation_p.L584P	p.L584P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			10	2981	-		Myeloproliferative disorder(46;0.0422)	584					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1751T>C	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.548100	0.86022	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.99282	-5.68;-5.68	5.31	5.31	0.75309	Biotin/lipoate A/B protein ligase (1);	0.000000	0.64402	D	0.000007	D	0.99697	0.9885	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97127	0.9815	10	0.87932	D	0	.	15.2626	0.73637	1.0:0.0:0.0:0.0	.	584	P50747	BPL1_HUMAN	P	584	ENSP00000382071:L584P;ENSP00000338387:L584P	ENSP00000338387:L584P	L	-	2	0	HLCS	37053942	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.550000	0.90675	2.002000	0.58637	0.482000	0.46254	CTG		0.348	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			49	462	0	0	0	1	0	49	462					G	38132072	A	G	38132072	3	3	79	1	0	0	0	0	1	0	0	0	7243	188	7	4	441	4	HLCS	21	38132072	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	350311	38132072	9997823	20607	30924											
HLCS	3141	broad.mit.edu	37	chr21	38139572	38139572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttaagcccatttcctgcggtGtctgaaacatcagcctgccg	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38139572G>A	ENST00000399120.1	-	8	2696	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	HLCS_ENST00000336648.4_Missense_Mutation_p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	489	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCTGCGGTGTCTGAAACAT	0.542																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1465-1467)aCa>aTa		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						105	89	95					21																	38139572		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38139572G>A		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1466C>T	21.37:g.38139572G>A	ENSP00000382071:p.Thr489Ile					HLCS_ENST00000336648.3_Missense_Mutation_p.T489I	p.T489I	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			8	2696	-		Myeloproliferative disorder(46;0.0422)	489					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.1466C>T	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263207	0.23051	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.94280	-3.39;-3.39	6.11	-0.369	0.12534	Biotin/lipoate A/B protein ligase (1);	0.671223	0.16243	N	0.223068	T	0.82070	0.4957	N	0.16130	0.375	0.20403	N	0.999901	B	0.02656	0.0	B	0.01281	0.0	T	0.67229	-0.5723	10	0.16420	T	0.52	.	5.6186	0.17446	0.552:0.0:0.3278:0.1203	.	489	P50747	BPL1_HUMAN	I	489	ENSP00000382071:T489I;ENSP00000338387:T489I	ENSP00000338387:T489I	T	-	2	0	HLCS	37061442	0.976000	0.34144	0.988000	0.46212	0.810000	0.45777	1.139000	0.31504	-0.028000	0.13850	-0.290000	0.09829	ACA		0.542	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			51	347	0	0	0	1	0	51	347					A	38139572	G	A	38139572	3	1	79	1	0	0	0	0	1	0	0	0	7243	1377	48	2	734	2	HLCS	21	38139572	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7500	38139572	9990323	20608	30925											
HLCS	3141	broad.mit.edu	37	chr21	38309528	38309528	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcctctcctttgtttggGttcttcaccaagagcctttg	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38309528G>T	ENST00000399120.1	-	5	1447	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	HLCS_ENST00000336648.4_Missense_Mutation_p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	73					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTTTGTTTGGGTTCTTCACCA	0.552																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(217-219)Ccc>Acc		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						91	78	82					21																	38309528		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309528G>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.217C>A	21.37:g.38309528G>T	ENSP00000382071:p.Pro73Thr					HLCS_ENST00000336648.3_Missense_Mutation_p.P73T	p.P73T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			5	1447	-		Myeloproliferative disorder(46;0.0422)	73					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.217C>A	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783937	0.16189	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461;ENST00000427746	D;D	0.97976	-4.64;-4.64	5.0	-9.6	0.00553	.	0.833571	0.10862	N	0.625967	D	0.92580	0.7643	L	0.53249	1.67	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81037	-0.1114	10	0.34782	T	0.22	.	1.0272	0.01530	0.436:0.1744:0.1271:0.2625	.	73;73	B2RAH1;P50747	.;BPL1_HUMAN	T	73	ENSP00000382071:P73T;ENSP00000338387:P73T	ENSP00000338387:P73T	P	-	1	0	HLCS	37231398	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.400000	0.07241	-1.709000	0.01399	-0.137000	0.14449	CCC		0.552	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			34	325	1	0	3.21399e-22	1	3.63327e-22	34	325					T	38309528	G	T	38309528	3	4	79	1	0	0	0	0	1	0	0	0	7243	1261	44	3	1995	3	HLCS	21	38309528	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169956	38309528	9820367	20609	30926											
TTC3	7267	broad.mit.edu	37	chr21	38519880	38519880	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatattctaagatccagataTacataactgatccagacttt	5	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38519880T>C	ENST00000399017.2	+	22	4740	c.1993T>C	c.(1993-1995)Tac>Cac	p.Y665H	TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	665					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)				GATCCAGATATACATAACTGA	0.368																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(1993-1995)Tac>Cac		tetratricopeptide repeat domain 3							115	111	112					21																	38519880		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38519880T>C	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.1993T>C	21.37:g.38519880T>C	ENSP00000381981:p.Tyr665His					TTC3_ENST00000540756.1_Missense_Mutation_p.Y355H|TTC3_ENST00000354749.2_Missense_Mutation_p.Y665H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Y665H	p.Y665H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			22	4740	+		Myeloproliferative disorder(46;0.0412)	665					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.1993T>C	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118059	0.77323	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.66099	1.63;-0.08;1.69;1.82;-0.19;1.82;1.82	4.88	4.88	0.63580	.	0.357825	0.24126	N	0.041314	T	0.70245	0.3202	L	0.32530	0.975	0.39491	D	0.968041	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	T	0.75121	-0.3429	10	0.87932	D	0	-14.1615	14.4552	0.67411	0.0:0.0:0.0:1.0	.	355;665	B4DSZ9;P53804	.;TTC3_HUMAN	H	665;665;647;665;355;665;665	ENSP00000403943:Y665H;ENSP00000408456:Y665H;ENSP00000391891:Y647H;ENSP00000347889:Y665H;ENSP00000442875:Y355H;ENSP00000381981:Y665H;ENSP00000346791:Y665H	ENSP00000346791:Y665H	Y	+	1	0	TTC3	37441750	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.518000	0.73764	1.951000	0.56629	0.528000	0.53228	TAC		0.368	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			84	342	0	0	0	1	0	84	342					C	38519880	T	C	38519880	3	2	79	1	0	0	0	0	1	0	0	0	16751	1406	49	4	2075	4	TTC3	21	38519880	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	210352	38519880	9610015	20610	30927											
TTC3	7267	broad.mit.edu	37	chr21	38537998	38537998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctcttgggatgccctcGttttgttgtgattgacaact	9	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38537998G>A	ENST00000399017.2	+	33	6229	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H	TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1161					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)				GGATGCCCTCGTTTTGTTGTG	0.363																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3481-3483)cGt>cAt		tetratricopeptide repeat domain 3							161	176	171					21																	38537998		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38537998G>A	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.3482G>A	21.37:g.38537998G>A	ENSP00000381981:p.Arg1161His					TTC3_ENST00000354749.2_Missense_Mutation_p.R1161H|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R1161H	p.R1161H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6229	+		Myeloproliferative disorder(46;0.0412)	1161					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3482G>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.472211	0.63737	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.14766	2.48;2.48;2.79;2.79;2.79	4.75	4.75	0.60458	.	0.097011	0.45867	D	0.000333	T	0.36026	0.0952	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.926	T	0.13282	-1.0515	10	0.87932	D	0	-11.0241	16.2538	0.82501	0.0:0.0:1.0:0.0	.	219;1161	Q5GIT6;P53804	.;TTC3_HUMAN	H	1161;1143;1161;1161;1161	ENSP00000403943:R1161H;ENSP00000391891:R1143H;ENSP00000347889:R1161H;ENSP00000381981:R1161H;ENSP00000346791:R1161H	ENSP00000346791:R1161H	R	+	2	0	TTC3	37459868	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.674000	0.46867	2.352000	0.79861	0.591000	0.81541	CGT		0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			100	961	0	0	0	1	0	100	961					A	38537998	G	A	38537998	3	1	79	1	0	0	0	0	1	0	0	0	16751	1145	40	1	3608	1	TTC3	21	38537998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18118	38537998	9591897	20611	30928											
TTC3	7267	broad.mit.edu	37	chr21	38538444	38538444	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaaaccaacttattgggctCaatcccatttggtcacagga	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38538444C>A	ENST00000399017.2	+	33	6675	c.3928C>A	c.(3928-3930)Caa>Aaa	p.Q1310K	TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1310					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)				TTATTGGGCTCAATCCCATTT	0.453																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(3928-3930)Caa>Aaa		tetratricopeptide repeat domain 3							105	108	107					21																	38538444		2203	4298	6501	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538444C>A	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.3928C>A	21.37:g.38538444C>A	ENSP00000381981:p.Gln1310Lys					TTC3_ENST00000354749.2_Missense_Mutation_p.Q1310K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.Q1310K	p.Q1310K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			33	6675	+		Myeloproliferative disorder(46;0.0412)	1310					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.3928C>A	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495499	0.44352	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.08282	3.11;3.11;3.11	5.09	4.14	0.48551	.	0.151389	0.30940	N	0.008577	T	0.08891	0.0220	L	0.51422	1.61	0.80722	D	1	P;B	0.37207	0.587;0.243	B;B	0.36464	0.225;0.033	T	0.12760	-1.0535	9	.	.	.	-10.37	10.4636	0.44594	0.0:0.7454:0.2546:0.0	.	368;1310	Q5GIT6;P53804	.;TTC3_HUMAN	K	1310	ENSP00000347889:Q1310K;ENSP00000381981:Q1310K;ENSP00000346791:Q1310K	.	Q	+	1	0	TTC3	37460314	0.157000	0.22836	0.943000	0.38184	0.590000	0.36582	1.965000	0.40471	2.533000	0.85409	0.655000	0.94253	CAA		0.453	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			64	584	1	0	9.65139e-37	1	1.15646e-36	64	584					A	38538444	C	A	38538444	3	1	79	1	0	0	0	0	1	0	0	0	16751	827	29	3	4054	3	TTC3	21	38538444	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	446	38538444	9591451	20612	30929											
DYRK1A	1859	broad.mit.edu	37	chr21	38884724	38884724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattttctgctaatacaggtCctgcacattacatgactgaa	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	ENST00000398960.2	+	11	2257	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	DYRK1A_ENST00000339659.4_Missense_Mutation_p.P719S|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	728					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						TAATACAGGTCCTGCACATTA	0.483																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				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						c.(2155-2157)Cct>Tct		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							112	101	105					21																	38884724		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884724C>T	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.2182C>T	21.37:g.38884724C>T	ENSP00000381932:p.Pro728Ser					DYRK1A_ENST00000455387.2_Missense_Mutation_p.P500S|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P728S|DYRK1A_ENST00000338785.3_3'UTR	p.P719S	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			11	3625	+			728					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.2155C>T	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883449	0.33255	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.58210	0.36;0.35;0.91	5.53	4.64	0.57946	.	0.099278	0.64402	N	0.000001	T	0.32164	0.0820	N	0.14661	0.345	0.53005	D	0.999964	B;B	0.32350	0.366;0.002	B;B	0.27500	0.08;0.005	T	0.10382	-1.0632	10	0.12103	T	0.63	.	14.5041	0.67741	0.0:0.9292:0.0:0.0708	.	728;719	Q13627;Q13627-2	DYR1A_HUMAN;.	S	719;728;500	ENSP00000340373:P719S;ENSP00000381932:P728S;ENSP00000407854:P500S	ENSP00000340373:P719S	P	+	1	0	DYRK1A	37806594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	1.338000	0.45544	0.655000	0.94253	CCT		0.483	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		32	284	0	0	0	1	0	32	284					T	38884724	C	T	38884724	3	4	79	1	0	0	0	0	1	0	0	0	4870	855	30	2	2308	2	DYRK1A	21	38884724	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346280	38884724	9245171	20613	30930											
KCNJ6	3763	broad.mit.edu	37	chr21	38997550	38997550	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcctcttcagtctccaGttctgcatgttggttgagtt	8	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	ENST00000609713.1	-	4	1772	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	KCNJ6_ENST00000288309.6_Silent_p.L395L	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	395					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)	TCAGTCTCCAGTTCTGCATGT	0.502																																					Pancreas(48;379 1118 2936 19024 28214)	ENST00000400482.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(1183-1185)Ctg>Ttg		potassium inwardly-rectifying channel, subfamily J, member 6	Halothane(DB01159)						214	201	205					21																	38997550		1888	4126	6014	SO:0001819	synonymous_variant	3763				synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr21:38997550G>A	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.1183C>T	21.37:g.38997550G>A						KCNJ6_ENST00000288309.6_Silent_p.L395L	p.L395L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN			4	1772	-			395					Q3MJ74|Q53WW6	Silent	SNP	ENST00000609713.1	37	c.1183C>T	CCDS42927.1																																																																																				0.502	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240		155	589	0	0	0	1	0	155	589					A	38997550	G	A	38997550	2	1	79	1	0	0	0	0	0	0	0	1	8085	1020	36	2		2	KCNJ6	21	38997550	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	112826	38997550	9132345	20614	30931											
KCNJ15	3772	broad.mit.edu	37	chr21	39671643	39671643	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcagttggtcatcacgAccttgattgagatcttcatc	8	10	5	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	ENST00000328656.4	+	4	763	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S	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	154					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)	GGTCATCACGACCTTGATTGA	0.512																																						ENST00000398930.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						c.(460-462)Acc>Tcc		potassium inwardly-rectifying channel, subfamily J, member 15							89	84	86					21																	39671643		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671643A>T	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.460A>T	21.37:g.39671643A>T	ENSP00000331698:p.Thr154Ser					KCNJ15_ENST00000398932.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.T154S|KCNJ15_ENST00000398934.1_Missense_Mutation_p.T154S|KCNJ15_ENST00000328656.3_Missense_Mutation_p.T154S	p.T154S			Q99712	IRK15_HUMAN			4	814	+			154					D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.460A>T	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534235	0.45073	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927	D;D;D;D;D;D;D;D	0.95885	-3.84;-3.26;-3.84;-3.84;-3.84;-3.84;-3.84;-3.26	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.113444	0.64402	D	0.000014	D	0.92967	0.7762	N	0.16266	0.395	0.44188	D	0.997006	P	0.46621	0.881	P	0.50192	0.634	D	0.92329	0.5872	9	.	.	.	.	16.2127	0.82178	1.0:0.0:0.0:0.0	.	154	Q99712	IRK15_HUMAN	S	154	ENSP00000331698:T154S;ENSP00000381902:T154S;ENSP00000381911:T154S;ENSP00000381905:T154S;ENSP00000414487:T154S;ENSP00000381904:T154S;ENSP00000381907:T154S;ENSP00000381901:T154S	.	T	+	1	0	KCNJ15	38593513	0.989000	0.36119	0.897000	0.35233	0.453000	0.32348	4.842000	0.62831	2.236000	0.73375	0.533000	0.62120	ACC		0.512	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		81	270	0	0	0	1	0	81	270					T	39671643	A	T	39671643	3	4	79	1	0	0	0	0	1	0	0	0	8079	275	10	5	462	5	KCNJ15	21	39671643	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	674093	39671643	8458252	20615	30932											
ETS2	2114	broad.mit.edu	37	chr21	40184962	40184962	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacctttgatgggtccctGtttgctgtttttccttctct	8	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40184962G>A	ENST00000360214.3	+	4	568	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ETS2_ENST00000360938.3_Silent_p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	36					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGGGTCCCTGTTTGCTGTTT	0.398																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(106-108)ctG>ctA		v-ets avian erythroblastosis virus E26 oncogene homolog 2							134	133	134					21																	40184962		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40184962G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.108G>A	21.37:g.40184962G>A						ETS2_ENST00000360938.3_Silent_p.L36L	p.L36L	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			4	568	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	36					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.108G>A	CCDS13659.1																																																																																				0.398	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			109	402	0	0	0	1	0	109	402					A	40184962	G	A	40184962	2	1	79	1	0	0	0	0	0	0	0	1	5294	1364	48	2		2	ETS2	21	40184962	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	513319	40184962	7944933	20616	30933											
ETS2	2114	broad.mit.edu	37	chr21	40186851	40186851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaacgctttctggagctgGcacctgactttgtgggtgac	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40186851G>A	ENST00000360214.3	+	6	911	c.451G>A	c.(451-453)Gca>Aca	p.A151T	ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCTGGAGCTGGCACCTGACTT	0.512																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(451-453)Gca>Aca		v-ets avian erythroblastosis virus E26 oncogene homolog 2							190	189	189					21																	40186851		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40186851G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.451G>A	21.37:g.40186851G>A	ENSP00000353344:p.Ala151Thr					ETS2_ENST00000360938.3_Missense_Mutation_p.A151T	p.A151T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			6	911	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	151			PNT.		A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.451G>A	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369851	0.82573	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.08	5.08	0.68730	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.162599	0.56097	D	0.000033	T	0.50531	0.1621	L	0.48935	1.535	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.955	T	0.49818	-0.8899	10	0.59425	D	0.04	.	18.8647	0.92287	0.0:0.0:1.0:0.0	.	151;151	P15036;C9JAG2	ETS2_HUMAN;.	T	151	ENSP00000353344:A151T;ENSP00000354194:A151T;ENSP00000401273:A151T;ENSP00000411086:A151T	ENSP00000353344:A151T	A	+	1	0	ETS2	39108721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.843000	0.86859	2.507000	0.84556	0.655000	0.94253	GCA		0.512	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			87	697	0	0	0	1	0	87	697					A	40186851	G	A	40186851	3	1	79	1	0	0	0	0	1	0	0	0	5294	1203	42	2	465	2	ETS2	21	40186851	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1889	40186851	7943044	20617	30934											
ETS2	2114	broad.mit.edu	37	chr21	40191548	40191548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgcaacgggttccttccttCgagagcttcgaagatgactg	12	10	0	3	rs113417859	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191548C>T	ENST00000360214.3	+	9	1393	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ETS2_ENST00000360938.3_Silent_p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	311					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18559	0.0		0.0	False		,,,				2504	0.0					ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(931-933)ttC>ttT		v-ets avian erythroblastosis virus E26 oncogene homolog 2		C		0,4406		0,0,2203	90	76	81		933	-4.4	0.9	21	dbSNP_132	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ETS2	NM_005239.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		311/470	40191548	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40191548C>T		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.933C>T	21.37:g.40191548C>T						ETS2_ENST00000360938.3_Silent_p.F311F	p.F311F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			9	1393	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	311					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.933C>T	CCDS13659.1																																																																																				0.552	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			14	143	0	0	0	1	0	14	143					T	40191548	C	T	40191548	2	4	79	1	0	0	0	0	0	0	0	1	5294	883	31	1		1	ETS2	21	40191548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4697	40191548	7938347	20618	30935											
ETS2	2114	broad.mit.edu	37	chr21	40191600	40191600	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcaataagccaaccAtgtctttcaaggattacatc	5	12	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191600A>G	ENST00000360214.3	+	9	1445	c.985A>G	c.(985-987)Atg>Gtg	p.M329V	ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	329					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TAAGCCAACCATGTCTTTCAA	0.537																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(985-987)Atg>Gtg		v-ets avian erythroblastosis virus E26 oncogene homolog 2							74	62	66					21																	40191600		2203	4300	6503	SO:0001583	missense	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40191600A>G		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.985A>G	21.37:g.40191600A>G	ENSP00000353344:p.Met329Val					ETS2_ENST00000360938.3_Missense_Mutation_p.M329V	p.M329V	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			9	1445	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	329					A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	c.985A>G	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295585	0.23564	.	.	ENSG00000157557	ENST00000360214;ENST00000360938	T;T	0.12039	2.72;2.72	5.9	5.9	0.94986	.	0.293939	0.42821	D	0.000653	T	0.12732	0.0309	L	0.38838	1.175	0.41499	D	0.988279	B	0.10296	0.003	B	0.06405	0.002	T	0.12451	-1.0547	10	0.16420	T	0.52	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	329	P15036	ETS2_HUMAN	V	329	ENSP00000353344:M329V;ENSP00000354194:M329V	ENSP00000353344:M329V	M	+	1	0	ETS2	39113470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.507000	0.60434	2.251000	0.74343	0.528000	0.53228	ATG		0.537	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			14	110	0	0	0	1	0	14	110					G	40191600	A	G	40191600	3	3	79	1	0	0	0	0	1	0	0	0	5294	217	8	4	1011	4	ETS2	21	40191600	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	52	40191600	7938295	20619	30936											
BRWD1	54014	broad.mit.edu	37	chr21	40559106	40559106	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagccgcagcagaagcatttCgatggggcagttttctgcta	12	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40559106C>T	ENST00000333229.2	-	42	7136	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					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)				AGAAGCATTTCGATGGGGCAG	0.338																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6808-6810)cGa>cAa		bromodomain and WD repeat domain containing 1							77	80	79					21																	40559106		2201	4296	6497	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40559106C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6809G>A	21.37:g.40559106C>T	ENSP00000330753:p.Arg2270Gln						p.R2270Q	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN			42	7136	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2270					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.6809G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903770	0.92035	.	.	ENSG00000185658	ENST00000333229	T	0.60299	0.2	5.64	5.64	0.86602	.	0.159818	0.29314	N	0.012508	T	0.70228	0.3200	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	P	0.55011	0.766	T	0.72357	-0.4318	10	0.66056	D	0.02	-0.8337	18.2571	0.90023	0.0:1.0:0.0:0.0	.	2270	Q9NSI6	BRWD1_HUMAN	Q	2270	ENSP00000330753:R2270Q	ENSP00000330753:R2270Q	R	-	2	0	BRWD1	39480976	0.635000	0.27199	1.000000	0.80357	0.998000	0.95712	3.262000	0.51538	2.820000	0.97059	0.650000	0.86243	CGA		0.338	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		60	270	0	0	0	1	0	60	270					T	40559106	C	T	40559106	3	4	79	1	0	0	0	0	1	0	0	0	1529	884	31	1	157	1	BRWD1	21	40559106	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	367506	40559106	7570789	20620	30937											
BRWD1	54014	broad.mit.edu	37	chr21	40604155	40604155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tagggttcagttcataaataTtatttcttcttacagcctca	5	8	5	0	rs145677980	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40604155T>G	ENST00000333229.2	-	25	3275	c.2948A>C	c.(2947-2949)aAt>aCt	p.N983T	BRWD1_ENST00000342449.3_Missense_Mutation_p.N983T|BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	983					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)				TTCATAAATATTATTTCTTCT	0.303																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2947-2949)aAt>aCt		bromodomain and WD repeat domain containing 1							69	69	69					21																	40604155		2202	4297	6499	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40604155T>G	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.2948A>C	21.37:g.40604155T>G	ENSP00000330753:p.Asn983Thr					BRWD1_ENST00000380800.3_Missense_Mutation_p.N983T|BRWD1_ENST00000333229.2_Missense_Mutation_p.N983T	p.N983T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			25	3026	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	983					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.2948A>C	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181532	0.78677	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56275	0.47;0.5;0.58	5.55	5.55	0.83447	.	0.127274	0.53938	D	0.000057	T	0.56934	0.2019	L	0.50333	1.59	0.80722	D	1	B;D	0.57899	0.337;0.981	B;P	0.49637	0.173;0.617	T	0.58912	-0.7552	10	0.48119	T	0.1	-4.9369	15.6973	0.77509	0.0:0.0:0.0:1.0	.	983;983	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	T	983	ENSP00000330753:N983T;ENSP00000344333:N983T;ENSP00000370178:N983T	ENSP00000330753:N983T	N	-	2	0	BRWD1	39526025	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	4.680000	0.61656	2.110000	0.64415	0.482000	0.46254	AAT		0.303	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		36	139	0	0	0	1	0	36	139					G	40604155	T	G	40604155	3	3	79	1	0	0	0	0	1	0	0	0	1529	1493	52	4	4325	4	BRWD1	21	40604155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	45049	40604155	7525740	20621	30938											
BRWD1	54014	broad.mit.edu	37	chr21	40646333	40646333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccatatccaataaaatgCtcctccattctaactgctca	3	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40646333C>T	ENST00000333229.2	-	13	1538	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRWD1_ENST00000342449.3_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	404					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)				CAATAAAATGCTCCTCCATTC	0.413																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(1210-1212)aGc>aAc		bromodomain and WD repeat domain containing 1							209	166	181					21																	40646333		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40646333C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1211G>A	21.37:g.40646333C>T	ENSP00000330753:p.Ser404Asn					BRWD1_ENST00000333229.2_Missense_Mutation_p.S404N|BRWD1_ENST00000380800.3_Missense_Mutation_p.S404N	p.S404N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			13	1289	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	404					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1211G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076531	0.55753	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.18338	2.22;2.22;2.22	5.55	5.55	0.83447	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	0.22399	0.0540	L	0.59436	1.845	0.80722	D	1	B;B;B	0.32753	0.006;0.383;0.128	B;B;B	0.36186	0.006;0.219;0.045	T	0.01371	-1.1372	10	0.48119	T	0.1	-7.0897	14.6863	0.69052	0.0:0.9286:0.0:0.0714	.	115;404;404	Q5R2U6;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	N	404	ENSP00000330753:S404N;ENSP00000344333:S404N;ENSP00000370178:S404N	ENSP00000330753:S404N	S	-	2	0	BRWD1	39568203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.530000	0.60595	2.626000	0.88956	0.484000	0.47621	AGC		0.413	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		9	413	0	0	0	1	0	9	413					T	40646333	C	T	40646333	3	4	79	1	0	0	0	0	1	0	0	0	1529	797	28	2	6110	2	BRWD1	21	40646333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42178	40646333	7483562	20622	30939											
IGSF5	150084	broad.mit.edu	37	chr21	41137582	41137582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcatcatgtgggctctcaGtgacatggtggtgctaagcg	14	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41137582G>A	ENST00000380588.4	+	3	324	c.221G>A	c.(220-222)aGt>aAt	p.S74N	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	74	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGCTCTCAGTGACATGGTG	0.587																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(220-222)aGt>aAt		immunoglobulin superfamily, member 5							95	72	80					21																	41137582		2203	4300	6503	SO:0001583	missense	150084					integral to membrane|tight junction		g.chr21:41137582G>A		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.221G>A	21.37:g.41137582G>A	ENSP00000369962:p.Ser74Asn					IGSF5_ENST00000479378.1_3'UTR	p.S74N	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			3	324	+		Prostate(19;5.35e-06)	74			Ig-like V-type 1.			Missense_Mutation	SNP	ENST00000380588.4	37	c.221G>A	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.499102	0.00157	.	.	ENSG00000183067	ENST00000380588	T	0.23348	1.91	3.71	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.810362	0.11545	N	0.553365	T	0.04588	0.0125	N	0.00142	-2.005	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	10	0.02654	T	1	-2.3909	7.3042	0.26438	0.8149:0.0:0.1851:0.0	.	74	Q9NSI5	IGSF5_HUMAN	N	74	ENSP00000369962:S74N	ENSP00000369962:S74N	S	+	2	0	IGSF5	40059452	0.005000	0.15991	0.071000	0.20095	0.006000	0.05464	1.999000	0.40806	0.131000	0.18576	-0.381000	0.06696	AGT		0.587	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			10	229	0	0	0	1	0	10	229					A	41137582	G	A	41137582	3	1	79	1	0	0	0	0	1	0	0	0	7632	1029	36	2	231	2	IGSF5	21	41137582	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	491249	41137582	6992313	20623	30940											
DSCAM	1826	broad.mit.edu	37	chr21	41384987	41384987	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtaagattttgcgtAaggattgtttcctttcaaat	10	5	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41384987A>G	ENST00000400454.1	-	33	6490	c.6013T>C	c.(6013-6015)Tac>Cac	p.Y2005H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	2005				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTTGCGTAAGGATTGTTT	0.463																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(6013-6015)Tac>Cac		Down syndrome cell adhesion molecule							69	67	68					21																	41384987		1890	4126	6016	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41384987A>G	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.6013T>C	21.37:g.41384987A>G	ENSP00000383303:p.Tyr2005His						p.Y2005H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6490	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	2005	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.6013T>C	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295528	0.60086	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.71222	-0.41;-0.55	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.63843	1.955	0.45097	D	0.998111	D	0.71674	0.998	D	0.78314	0.991	D	0.84193	0.0446	10	0.87932	D	0	.	15.4267	0.75059	1.0:0.0:0.0:0.0	.	2005	O60469	DSCAM_HUMAN	H	2005;1739	ENSP00000383303:Y2005H;ENSP00000385342:Y1739H	ENSP00000383303:Y2005H	Y	-	1	0	DSCAM	40306857	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	8.686000	0.91250	2.041000	0.60428	0.455000	0.32223	TAC		0.463	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		11	197	0	0	0	1	0	11	197					G	41384987	A	G	41384987	3	3	79	1	0	0	0	0	1	0	0	0	4784	362	13	4	29	4	DSCAM	21	41384987	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	247405	41384987	6744908	20624	30941											
DSCAM	1826	broad.mit.edu	37	chr21	41385243	41385243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctaagctcaggtccctGctggtgcctggaccacctcg	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41385243G>A	ENST00000400454.1	-	33	6234	c.5757C>T	c.(5755-5757)agC>agT	p.S1919S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1919				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGGTCCCTGCTGGTGCCTG	0.542																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5755-5757)agC>agT		Down syndrome cell adhesion molecule							53	53	53					21																	41385243		1977	4152	6129	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385243G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5757C>T	21.37:g.41385243G>A							p.S1919S	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6234	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1919	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Silent	SNP	ENST00000400454.1	37	c.5757C>T	CCDS42929.1																																																																																				0.542	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	275	0	0	0	1	0	14	275					A	41385243	G	A	41385243	2	1	79	1	0	0	0	0	0	0	0	1	4784	1310	46	2		2	DSCAM	21	41385243	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	256	41385243	6744652	20625	30942											
DSCAM	1826	broad.mit.edu	37	chr21	41452251	41452251	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcactattgtcctcggaGtactgcagtatgtatcctgc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41452251G>T	ENST00000400454.1	-	25	4725	c.4248C>A	c.(4246-4248)taC>taA	p.Y1416*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1416	Fibronectin type-III 5. {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)				TGTCCTCGGAGTACTGCAGTA	0.453																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4246-4248)taC>taA		Down syndrome cell adhesion molecule							79	75	76					21																	41452251		1938	4135	6073	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41452251G>T	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.4248C>A	21.37:g.41452251G>T	ENSP00000383303:p.Tyr1416*						p.Y1416*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			25	4725	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1416			Fibronectin type-III 5.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.4248C>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	38	6.695044	0.97768	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.28	0.893	0.19236	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5629	0.45156	0.3606:0.0:0.6394:0.0	.	.	.	.	X	1416;1168	.	ENSP00000383303:Y1416X	Y	-	3	2	DSCAM	40374121	1.000000	0.71417	0.956000	0.39512	0.106000	0.19336	0.816000	0.27267	-0.147000	0.11254	-0.244000	0.11960	TAC		0.453	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	205	1	0	1.12685e-05	1	1.15515e-05	9	205					T	41452251	G	T	41452251	4	4	79	1	0	0	0	0	0	1	0	0	4784	1024	36	3	1826	3	DSCAM	21	41452251	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67008	41452251	6677644	20626	30943											
DSCAM	1826	broad.mit.edu	37	chr21	41457658	41457658	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgctaaagatgctcctccGcccatcaatcgttactagac	7	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41457658G>A	ENST00000400454.1	-	23	4480	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1335	Ig-like C2-type 10.				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)				ATGCTCCTCCGCCCATCAATC	0.458																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4003-4005)Cgg>Tgg		Down syndrome cell adhesion molecule							87	80	82					21																	41457658		1884	4124	6008	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41457658G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4003C>T	21.37:g.41457658G>A	ENSP00000383303:p.Arg1335Trp						p.R1335W	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			23	4480	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1335			Ig-like C2-type 10.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4003C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	32	5.159064	0.94686	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.40756	1.02;1.02	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.92555	3.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.80286	-0.1446	10	0.62326	D	0.03	.	19.4584	0.94904	0.0:0.0:1.0:0.0	.	1335	O60469	DSCAM_HUMAN	W	1335;1087	ENSP00000383303:R1335W;ENSP00000385342:R1087W	ENSP00000383303:R1335W	R	-	1	2	DSCAM	40379528	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.550000	0.60733	2.581000	0.87130	0.655000	0.94253	CGG		0.458	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		36	293	0	0	0	1	0	36	293					A	41457658	G	A	41457658	3	1	79	1	0	0	0	0	1	0	0	0	4784	1086	38	1	2079	1	DSCAM	21	41457658	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5407	41457658	6672237	20627	30944											
DSCAM	1826	broad.mit.edu	37	chr21	41710129	41710129	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cttccttttgcacatctgaaAgtttaagagttccattgttc	6	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41710129A>C	ENST00000400454.1	-	8	2159	c.1682T>G	c.(1681-1683)cTt>cGt	p.L561R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	561	Ig-like C2-type 6.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATCTGAAAGTTTAAGAGT	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1681-1683)cTt>cGt		Down syndrome cell adhesion molecule							166	156	159					21																	41710129		1964	4157	6121	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41710129A>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1682T>G	21.37:g.41710129A>C	ENSP00000383303:p.Leu561Arg						p.L561R	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			8	2159	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	561			Ig-like C2-type 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1682T>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796638	0.70567	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.69806	-0.43;-0.43	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.91090	3.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88903	0.3354	10	0.87932	D	0	.	16.0742	0.80958	1.0:0.0:0.0:0.0	.	561	O60469	DSCAM_HUMAN	R	561;313	ENSP00000383303:L561R;ENSP00000385342:L313R	ENSP00000383303:L561R	L	-	2	0	DSCAM	40631999	1.000000	0.71417	0.999000	0.59377	0.631000	0.37964	9.133000	0.94460	2.198000	0.70561	0.533000	0.62120	CTT		0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		88	392	0	0	0	1	0	88	392					C	41710129	A	C	41710129	3	2	79	1	0	0	0	0	1	0	0	0	4784	72	3	4	4460	4	DSCAM	21	41710129	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	252471	41710129	6419766	20628	30945											
DSCAM	1826	broad.mit.edu	37	chr21	41711061	41711061	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcacctcttacgtttattcGagcctggtacaggacgactc	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41711061G>A	ENST00000400454.1	-	7	1969	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	498	Ig-like C2-type 5.				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)				ACGTTTATTCGAGCCTGGTAC	0.527																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1492-1494)Cga>Tga		Down syndrome cell adhesion molecule							85	82	83					21																	41711061		1968	4171	6139	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711061G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1492C>T	21.37:g.41711061G>A	ENSP00000383303:p.Arg498*						p.R498*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			7	1969	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	498			Ig-like C2-type 5.		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.1492C>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	38	6.699790	0.97772	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	6.08	4.28	0.50868	.	0.076737	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2318	0.54492	0.0643:0.1204:0.8153:0.0	.	.	.	.	X	498;250	.	ENSP00000383303:R498X	R	-	1	2	DSCAM	40632931	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	9.751000	0.98889	0.903000	0.36546	-0.165000	0.13383	CGA		0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		79	244	0	0	0	1	0	79	244					A	41711061	G	A	41711061	4	1	79	1	0	0	0	0	0	1	0	0	4784	1066	37	1	4654	1	DSCAM	21	41711061	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	932	41711061	6418834	20629	30946											
DSCAM	1826	broad.mit.edu	37	chr21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgatacaaaaagtctggCgctgttgctctgcctcgtct	9	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	213	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(637-639)Gcc>Acc		Down syndrome cell adhesion molecule							86	87	87					21																	41741044		1926	4138	6064	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41741044C>T	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.637G>A	21.37:g.41741044C>T	ENSP00000383303:p.Ala213Thr						p.A213T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			4	1114	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	213			Ig-like C2-type 2.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.637G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626471	0.96671	.	.	ENSG00000171587	ENST00000400454	T	0.12255	2.7	6.07	6.07	0.98685	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.74546	2.27	0.53688	D	0.999971	D	0.89917	1.0	D	0.69654	0.965	T	0.02417	-1.1162	10	0.49607	T	0.09	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	213	O60469	DSCAM_HUMAN	T	213	ENSP00000383303:A213T	ENSP00000383303:A213T	A	-	1	0	DSCAM	40662914	1.000000	0.71417	0.769000	0.31535	0.950000	0.60333	7.670000	0.83925	2.885000	0.99019	0.655000	0.94253	GCC		0.428	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		50	231	0	0	0	1	0	50	231					T	41741044	C	T	41741044	3	4	79	1	0	0	0	0	1	0	0	0	4784	768	27	1	5521	1	DSCAM	21	41741044	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29983	41741044	6388851	20630	30947											
BACE2	25825	broad.mit.edu	37	chr21	42647386	42647386	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgctcagtctttgagCgagcccattttgtggattgt	11	11	2	1	rs537658410		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42647386C>T	ENST00000330333.6	+	9	1855	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_Silent_p.S414S|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	464					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)				AGTCTTTGAGCGAGCCCATTT	0.547																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1390-1392)agC>agT		beta-site APP-cleaving enzyme 2							156	134	142					21																	42647386		2203	4300	6503	SO:0001819	synonymous_variant	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42647386C>T	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.1392C>T	21.37:g.42647386C>T						BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000347667.4_Silent_p.S414S	p.S464S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			9	1855	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	464					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Silent	SNP	ENST00000330333.6	37	c.1392C>T	CCDS13668.1																																																																																				0.547	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			6	308	0	0	0	1	0	6	308					T	42647386	C	T	42647386	2	4	79	1	0	0	0	0	0	0	0	1	1283	767	27	1		1	BACE2	21	42647386	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	906342	42647386	5482509	20631	30948											
MX2	4600	broad.mit.edu	37	chr21	42748845	42748845	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacagcacatgtctaaggcCcacaagccttggccctaccg	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42748845C>A	ENST00000330714.3	+	2	196	c.12C>A	c.(10-12)gcC>gcA	p.A4A	MX2_ENST00000543692.1_Silent_p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	4					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGTCTAAGGCCCACAAGCCTT	0.507																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(10-12)gcC>gcA		myxovirus (influenza virus) resistance 2 (mouse)							70	72	71					21																	42748845		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42748845C>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.12C>A	21.37:g.42748845C>A						MX2_ENST00000543692.1_Silent_p.A4A	p.A4A	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			2	196	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	4					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.12C>A	CCDS13672.1																																																																																				0.507	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		87	378	1	0	1.86864e-30	1	2.19243e-30	87	378					A	42748845	C	A	42748845	2	1	79	1	0	0	0	0	0	0	0	1	10039	610	22	3		3	MX2	21	42748845	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	101459	42748845	5381050	20632	30949											
MX1	4599	broad.mit.edu	37	chr21	42830566	42830566	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgcagctcctgcaggacaagGacacctacagctggctcctg	11	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42830566G>T	ENST00000398600.2	+	19	2895	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	MX1_ENST00000455164.2_Missense_Mutation_p.D624Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000288383.6_Missense_Mutation_p.D601Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	624	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAGGACAAGGACACCTACAG	0.617																																						ENST00000398600.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27						c.(1870-1872)Gac>Tac		myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)							112	108	109					21																	42830566		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42830566G>T		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1870G>T	21.37:g.42830566G>T	ENSP00000381601:p.Asp624Tyr					MX1_ENST00000288383.6_Missense_Mutation_p.D601Y|MX1_ENST00000398598.3_Missense_Mutation_p.D624Y|MX1_ENST00000455164.2_Missense_Mutation_p.D624Y	p.D624Y	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN			19	2895	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	624			GED.		B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1870G>T	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406273	0.83230	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	4.7	4.7	0.59300	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.317331	0.36932	N	0.002327	T	0.69904	0.3163	M	0.77616	2.38	0.52501	D	0.99995	D	0.60160	0.987	D	0.63381	0.914	T	0.74334	-0.3699	10	0.87932	D	0	-15.9133	13.8894	0.63729	0.0:0.0:1.0:0.0	.	624	P20591	MX1_HUMAN	Y	624;624;624;601	ENSP00000381601:D624Y;ENSP00000381599:D624Y;ENSP00000410523:D624Y;ENSP00000288383:D601Y	ENSP00000288383:D601Y	D	+	1	0	MX1	41752436	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	3.882000	0.56160	2.547000	0.85894	0.655000	0.94253	GAC		0.617	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			129	518	1	0	4.22328e-53	1	5.25993e-53	129	518					T	42830566	G	T	42830566	3	4	79	1	0	0	0	0	1	0	0	0	10038	1174	41	3	1920	3	MX1	21	42830566	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81721	42830566	5299329	20633	30950											
RIPK4	54101	broad.mit.edu	37	chr21	43161377	43161377	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcctccttgccagcgcccCgatgcaggagcagcctggca	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161377C>T	ENST00000352483.2	-	9	2184	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	707					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						GCCAGCGCCCCGATGCAGGAG	0.672																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2119-2121)cGg>cAg		receptor-interacting serine-threonine kinase 4							42	44	44					21																	43161377		2203	4299	6502	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161377C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2120G>A	21.37:g.43161377C>T	ENSP00000330161:p.Arg707Gln					RIPK4_ENST00000332512.3_Missense_Mutation_p.R659Q|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R596Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R596Q	p.R707Q			Q96T11	Q96T11_HUMAN			9	2184	-			659					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.2120G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.525443|2.525443	0.44969|0.44969	.|.	.|.	ENSG00000183421|ENSG00000183421	ENST00000330470|ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.|T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;-0.16	4.52|4.52	3.63|3.63	0.41609|0.41609	.|.	.|0.225320	.|0.30311	.|N	.|0.009918	T|T	0.50582|0.50582	0.1624|0.1624	L|L	0.28458|0.28458	0.855|0.855	0.36028|0.36028	D|D	0.839186|0.839186	.|D	.|0.56287	.|0.975	.|P	.|0.47891	.|0.56	T|T	0.53753|0.53753	-0.8394|-0.8394	6|10	0.87932|0.21540	D|T	0|0.41	-13.8925|-13.8925	8.2319|8.2319	0.31603|0.31603	0.0:0.7918:0.0:0.2082|0.0:0.7918:0.0:0.2082	.|.	.|659	.|P57078-2	.|.	R|Q	395|659;707;596;596	.|ENSP00000332454:R659Q;ENSP00000330161:R707Q;ENSP00000441754:R596Q;ENSP00000442901:R596Q	ENSP00000330975:G395R|ENSP00000332454:R659Q	G|R	-|-	1|2	0|0	RIPK4|RIPK4	42034446|42034446	0.778000|0.778000	0.28640|0.28640	0.842000|0.842000	0.33263|0.33263	0.561000|0.561000	0.35649|0.35649	1.287000|1.287000	0.33284|0.33284	0.882000|0.882000	0.36016|0.36016	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		50	380	0	0	0	1	0	50	380					T	43161377	C	T	43161377	3	4	79	1	0	0	0	0	1	0	0	0	13433	652	23	1	382	1	RIPK4	21	43161377	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	330811	43161377	4968518	20634	30951											
RIPK4	54101	broad.mit.edu	37	chr21	43161678	43161678	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggctcacgtccacgcctcGgcgcagcaggatgcgcacga	13	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161678G>A	ENST00000352483.2	-	9	1883	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	607					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)	p.R559*(1)|p.R607*(1)		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						TCCACGCCTCGGCGCAGCAGG	0.662																																						ENST00000352483.2																			2	Substitution - Nonsense(2)	p.R559*(1)|p.R607*(1)	lung(2)	NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1819-1821)Cga>Tga		receptor-interacting serine-threonine kinase 4							42	39	40					21																	43161678		2203	4299	6502	SO:0001587	stop_gained	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161678G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1819C>T	21.37:g.43161678G>A	ENSP00000330161:p.Arg607*					RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R559*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R496*|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R496*	p.R607*			Q96T11	Q96T11_HUMAN			9	1883	-			559					Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37	c.1819C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.258731	0.97421	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	.	.	.	4.99	2.93	0.34026	.	0.088033	0.44688	D	0.000429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5631	6.8025	0.23758	0.0:0.1277:0.4676:0.4047	.	.	.	.	X	559;607;496;496;298	.	ENSP00000330975:R298X	R	-	1	2	RIPK4	42034747	1.000000	0.71417	0.187000	0.23214	0.881000	0.50899	5.506000	0.66993	1.055000	0.40461	0.655000	0.94253	CGA		0.662	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		73	215	0	0	0	1	0	73	215					A	43161678	G	A	43161678	4	1	79	1	0	0	0	0	0	1	0	0	13433	1124	39	1	683	1	RIPK4	21	43161678	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	301	43161678	4968217	20635	30952											
RIPK4	54101	broad.mit.edu	37	chr21	43161895	43161895	+	Silent	SNP	G	G	A													cgcgccagcaggagctccacGacaccccgcaccctcctctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161895G>A	ENST00000352483.2	-	9	1666	c.1602C>T	c.(1600-1602)gtC>gtT	p.V534V	RIPK4_ENST00000332512.3_Silent_p.V486V|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000542057.1_Silent_p.V423V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	534					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						GGAGCTCCACGACACCCCGCA	0.632																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1600-1602)gtC>gtT		receptor-interacting serine-threonine kinase 4							102	87	92					21																	43161895		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161895G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1602C>T	21.37:g.43161895G>A						RIPK4_ENST00000332512.3_Silent_p.V486V|RIPK4_ENST00000544709.1_Silent_p.V423V|RIPK4_ENST00000542057.1_Silent_p.V423V	p.V534V			Q96T11	Q96T11_HUMAN			9	1666	-			486					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1602C>T																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		108	398	0	0	0	1	0	108	398					A	43161895	G	A	43161895	2	1	79	1	0	0	0	0	0	0	0	1	13433	1045	37	1		1	RIPK4	21	43161895	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	217	43161895	4968000	20636	30953	201	2									
RIPK4	54101	broad.mit.edu	37	chr21	43161903	43161903	+	Missense_Mutation	SNP	G	G	A													caggagctccacgacaccccGcaccctcctctccacggcca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161903G>A	ENST00000352483.2	-	9	1658	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	532					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						ACGACACCCCGCACCCTCCTC	0.632																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1594-1596)Cgg>Tgg		receptor-interacting serine-threonine kinase 4							97	84	89					21																	43161903		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161903G>A	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1594C>T	21.37:g.43161903G>A	ENSP00000330161:p.Arg532Trp					RIPK4_ENST00000332512.3_Missense_Mutation_p.R484W|RIPK4_ENST00000544709.1_Missense_Mutation_p.R421W|RIPK4_ENST00000542057.1_Missense_Mutation_p.R421W	p.R532W			Q96T11	Q96T11_HUMAN			9	1658	-			484					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1594C>T		.	.	.	.	.	.	.	.	.	.	G	11.61	1.690655	0.29962	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.84	3.86	0.44501	.	0.205027	0.32640	N	0.005837	T	0.21841	0.0526	L	0.28014	0.82	0.23070	N	0.998349	D	0.71674	0.998	P	0.59546	0.859	T	0.02161	-1.1203	10	0.62326	D	0.03	-32.3207	9.6918	0.40134	0.0:0.0:0.5728:0.4272	.	484	P57078-2	.	W	484;532;421;421;223	ENSP00000332454:R484W;ENSP00000330161:R532W;ENSP00000441754:R421W;ENSP00000442901:R421W	ENSP00000330975:R223W	R	-	1	2	RIPK4	42034972	0.999000	0.42202	0.043000	0.18650	0.004000	0.04260	4.307000	0.59123	2.209000	0.71365	0.655000	0.94253	CGG		0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		41	477	0	0	0	1	0	41	477					A	43161903	G	A	43161903	3	1	79	1	0	0	0	0	1	0	0	0	13433	1086	38	1	908	1	RIPK4	21	43161903	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8	43161903	4967992	20637	30954	201	2									
RIPK4	54101	broad.mit.edu	37	chr21	43171324	43171324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctctggagggaggtaggCgattgtgccaaacaggccat	16	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43171324C>T	ENST00000352483.2	-	3	620	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	186	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						GGGAGGTAGGCGATTGTGCCA	0.577																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(556-558)Gcc>Acc		receptor-interacting serine-threonine kinase 4							136	115	122					21																	43171324		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43171324C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"Ankyrin repeat domain containing"	496	protein-coding gene	gene with protein product	"protein kinase C-associated kinase", "PKC-delta-interacting protein kinase"	605706	"ankyrin repeat domain 3"	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.556G>A	21.37:g.43171324C>T	ENSP00000330161:p.Ala186Thr					RIPK4_ENST00000332512.3_Missense_Mutation_p.A186T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A123T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A123T	p.A186T			Q96T11	Q96T11_HUMAN			3	620	-			186					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.556G>A		.	.	.	.	.	.	.	.	.	.	C	23.7	4.443555	0.83993	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000028	T	0.68384	0.2995	N	0.21508	0.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.73839	-0.3856	10	0.72032	D	0.01	-31.4363	16.3904	0.83533	0.0:1.0:0.0:0.0	.	186	P57078-2	.	T	186;186;123;123	ENSP00000332454:A186T;ENSP00000330161:A186T;ENSP00000441754:A123T;ENSP00000442901:A123T	ENSP00000332454:A186T	A	-	1	0	RIPK4	42044393	1.000000	0.71417	0.999000	0.59377	0.764000	0.43329	5.766000	0.68843	2.088000	0.63022	0.561000	0.74099	GCC		0.577	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		57	277	0	0	0	1	0	57	277					T	43171324	C	T	43171324	3	4	79	1	0	0	0	0	1	0	0	0	13433	768	27	1	1822	1	RIPK4	21	43171324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9421	43171324	4958571	20638	30955											
PRDM15	63977	broad.mit.edu	37	chr21	43236126	43236126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgcggtggcactccttgCactcgtactccttgatgccc	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43236126C>T	ENST00000269844.3	-	26	3535	c.3425G>A	c.(3424-3426)tGc>tAc	p.C1142Y	PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000422911.1_Missense_Mutation_p.C833Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1142					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						GCACTCCTTGCACTCGTACTC	0.642																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2497-2499)tGc>tAc		PR domain containing 15							181	124	144					21																	43236126		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43236126C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3425G>A	21.37:g.43236126C>T	ENSP00000269844:p.Cys1142Tyr					PRDM15_ENST00000447207.2_Missense_Mutation_p.C776Y|PRDM15_ENST00000538201.1_Missense_Mutation_p.C796Y|PRDM15_ENST00000269844.3_Missense_Mutation_p.C1142Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.C813Y	p.C833Y			P57071	PRD15_HUMAN			20	2599	-			1142					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2498G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.636198	0.87760	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.49	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95993	0.8695	H	0.99404	4.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.985	D	0.98285	1.0510	9	0.87932	D	0	-24.7482	16.2106	0.82151	0.0:1.0:0.0:0.0	.	1142;833;813	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Y	833;813;796;776;1142	ENSP00000408592:C833Y;ENSP00000381556:C813Y;ENSP00000444044:C796Y;ENSP00000390245:C776Y;ENSP00000269844:C1142Y	ENSP00000269844:C1142Y	C	-	2	0	PRDM15	42109195	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.413000	0.80104	2.048000	0.60808	0.645000	0.84053	TGC		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		42	360	0	0	0	1	0	42	360					T	43236126	C	T	43236126	3	4	79	1	0	0	0	0	1	0	0	0	12503	710	25	2	1122	2	PRDM15	21	43236126	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	64802	43236126	4893769	20639	30956											
PRDM15	63977	broad.mit.edu	37	chr21	43274842	43274842	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttctggtgctcggcctccGccgctggccgcaccagcatc	13	17	1	0	rs368907707		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43274842G>A	ENST00000269844.3	-	12	1579	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000422911.1_Missense_Mutation_p.A161V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	490	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTCGGCCTCCGCCGCTGGCCG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		18524	0.001		0.0	False		,,,				2504	0.0					ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(481-483)gCg>gTg		PR domain containing 15		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	52	43	46		482,1469	-1.9	0	21		46	0,8600		0,0,4300	no	missense,missense	PRDM15	NM_001040424.1,NM_022115.3	64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	161/1179,490/1508	43274842	1,13005	2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43274842G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1469C>T	21.37:g.43274842G>A	ENSP00000269844:p.Ala490Val					PRDM15_ENST00000447207.2_Missense_Mutation_p.A124V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A124V|PRDM15_ENST00000269844.3_Missense_Mutation_p.A490V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A161V	p.A161V			P57071	PRD15_HUMAN			5	583	-			490					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.482C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	9.705	1.155572	0.21454	2.27E-4	0.0	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.74	-1.94	0.07571	SET domain (2);	.	.	.	.	T	0.22859	0.0552	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.17653	-1.0362	9	0.32370	T	0.25	-16.3261	6.0163	0.19605	0.2206:0.0:0.5366:0.2428	.	490;161;161	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	161;161;124;124;490;124	ENSP00000408592:A161V;ENSP00000381556:A161V;ENSP00000444044:A124V;ENSP00000390245:A124V;ENSP00000269844:A490V	ENSP00000269844:A490V	A	-	2	0	PRDM15	42147911	0.000000	0.05858	0.005000	0.12908	0.600000	0.36913	0.115000	0.15540	-0.382000	0.07870	0.655000	0.94253	GCG		0.647	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		7	314	0	0	0	1	0	7	314					A	43274842	G	A	43274842	3	1	79	1	0	0	0	0	1	0	0	0	12503	1087	38	1	3134	1	PRDM15	21	43274842	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	38716	43274842	4855053	20640	30957											
C2CD2	25966	broad.mit.edu	37	chr21	43319445	43319445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagccctgcatcagggcAgcgtcgtggtcctgagatag	15	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43319445A>G	ENST00000380486.3	-	13	1828	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	C2CD2_ENST00000329623.7_Silent_p.A374A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	529						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						GCATCAGGGCAGCGTCGTGGT	0.602																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(1585-1587)gcT>gcC		C2 calcium-dependent domain containing 2							33	38	36					21																	43319445		2080	4117	6197	SO:0001819	synonymous_variant	25966					cytosol|extracellular region|nucleus		g.chr21:43319445A>G	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.1587T>C	21.37:g.43319445A>G						C2CD2_ENST00000329623.7_Silent_p.A374A	p.A529A	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			13	1828	-			529					Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	c.1587T>C	CCDS42933.1	.	.	.	.	.	.	.	.	.	.	A	1.964	-0.438107	0.04636	.	.	ENSG00000157617	ENST00000449165	.	.	.	4.96	-8.02	0.01118	.	.	.	.	.	T	0.47173	0.1431	.	.	.	0.39506	D	0.968282	.	.	.	.	.	.	T	0.53258	-0.8464	4	.	.	.	-14.4391	7.9098	0.29785	0.7422:0.0889:0.0808:0.0881	.	.	.	.	R	15	.	.	C	-	1	0	C2CD2	42192514	0.004000	0.15560	0.012000	0.15200	0.132000	0.20833	-0.528000	0.06193	-1.413000	0.02027	-0.464000	0.05259	TGC		0.602	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		11	179	0	0	0	1	0	11	179					G	43319445	A	G	43319445	2	3	79	1	0	0	0	0	0	0	0	1	2159	175	7	4		4	C2CD2	21	43319445	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44603	43319445	4810450	20641	30958											
C2CD2	25966	broad.mit.edu	37	chr21	43329596	43329596	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatcgcccagcctctgaaatCtgcaggtgtaactccttcga	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43329596C>T	ENST00000380486.3	-	8	1231	c.990G>A	c.(988-990)caG>caA	p.Q330Q	C2CD2_ENST00000329623.7_Silent_p.Q175Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	330	C2.					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						CCTCTGAAATCTGCAGGTGTA	0.493																																						ENST00000380486.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						c.(988-990)caG>caA		C2 calcium-dependent domain containing 2							93	78	83					21																	43329596		2203	4300	6503	SO:0001819	synonymous_variant	25966					cytosol|extracellular region|nucleus		g.chr21:43329596C>T	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.990G>A	21.37:g.43329596C>T						C2CD2_ENST00000329623.7_Silent_p.Q175Q	p.Q330Q	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN			8	1231	-			330			C2.		Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	ENST00000380486.3	37	c.990G>A	CCDS42933.1																																																																																				0.493	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195228.2	NM_015500		28	290	0	0	0	1	0	28	290					T	43329596	C	T	43329596	2	4	79	1	0	0	0	0	0	0	0	1	2159	912	32	2		2	C2CD2	21	43329596	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10151	43329596	4800299	20642	30959											
ZNF295	49854	broad.mit.edu	37	chr21	43411126	43411126	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtggggcatggtaaaaaaGggtgtctgattcttggggca	18	4	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411126G>T	ENST00000310826.5	-	3	3262	c.3079C>A	c.(3079-3081)Ctt>Att	p.L1027I	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L826I|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L1027I|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L1027I	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1027					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TGGTAAAAAAGGGTGTCTGAT	0.483																																						ENST00000310826.5																			0											c.(3079-3081)Ctt>Att		zinc finger and BTB domain containing 21							105	108	107					21																	43411126		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411126G>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.3079C>A	21.37:g.43411126G>T	ENSP00000308759:p.Leu1027Ile					ZBTB21_ENST00000398511.3_Missense_Mutation_p.L1027I|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L1027I|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L826I	p.L1027I	NM_001098402.1	NP_001091872.1					3	3262	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.3079C>A	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114235	0.77210	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.01629	4.72;4.72;4.72;4.72	5.07	5.07	0.68467	.	0.000000	0.64402	U	0.000011	T	0.06234	0.0161	L	0.29908	0.895	0.54753	D	0.999981	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.991	T	0.53049	-0.8493	10	0.46703	T	0.11	-12.8027	18.454	0.90713	0.0:0.0:1.0:0.0	.	826;1027	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	I	826;1027;1027;1027	ENSP00000381517:L826I;ENSP00000308759:L1027I;ENSP00000381512:L1027I;ENSP00000381523:L1027I	ENSP00000308759:L1027I	L	-	1	0	ZNF295	42284195	1.000000	0.71417	0.412000	0.26496	0.996000	0.88848	6.231000	0.72307	2.353000	0.79882	0.655000	0.94253	CTT		0.483	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		92	341	1	0	3.83285e-27	1	4.43296e-27	92	341					T	43411126	G	T	43411126	3	4	79	1	0	0	0	0	1	0	0	0	17880	1000	35	3	125	3	ZNF295	21	43411126	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	81530	43411126	4718769	20643	30960											
ZNF295	49854	broad.mit.edu	37	chr21	43411317	43411317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgccgattcctctgaaGcctgagacatgtgcgattgg	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411317G>A	ENST00000310826.5	-	3	3071	c.2888C>T	c.(2887-2889)gCt>gTt	p.A963V	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.A762V|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A963V|ZBTB21_ENST00000398511.3_Missense_Mutation_p.A963V	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	963					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										TTCCTCTGAAGCCTGAGACAT	0.507																																						ENST00000310826.5																			0											c.(2887-2889)gCt>gTt		zinc finger and BTB domain containing 21							84	83	83					21																	43411317		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411317G>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2888C>T	21.37:g.43411317G>A	ENSP00000308759:p.Ala963Val					ZBTB21_ENST00000398511.3_Missense_Mutation_p.A963V|ZBTB21_ENST00000398499.1_Missense_Mutation_p.A963V|ZBTB21_ENST00000398505.3_Missense_Mutation_p.A762V	p.A963V	NM_001098402.1	NP_001091872.1					3	3071	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2888C>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771546	0.31320	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08008	3.4;3.14;3.14;3.14	5.5	5.5	0.81552	Zinc finger, C2H2 (1);	0.163245	0.41712	D	0.000835	T	0.06645	0.0170	N	0.19112	0.55	0.26484	N	0.97506	B;B	0.32753	0.383;0.062	B;B	0.29716	0.106;0.011	T	0.31081	-0.9956	10	0.41790	T	0.15	-12.3294	14.2718	0.66155	0.0:0.0:0.8512:0.1488	.	762;963	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	V	762;963;963;963	ENSP00000381517:A762V;ENSP00000308759:A963V;ENSP00000381512:A963V;ENSP00000381523:A963V	ENSP00000308759:A963V	A	-	2	0	ZNF295	42284386	1.000000	0.71417	0.923000	0.36655	0.867000	0.49689	6.072000	0.71238	2.593000	0.87608	0.655000	0.94253	GCT		0.507	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		49	432	0	0	0	1	0	49	432					A	43411317	G	A	43411317	3	1	79	1	0	0	0	0	1	0	0	0	17880	971	34	2	316	2	ZNF295	21	43411317	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	43411317	4718578	20644	30961											
ZNF295	49854	broad.mit.edu	37	chr21	43411416	43411416	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atggtttcacagagcacagaAgctcctggtgacgctccagc	11	12	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411416A>C	ENST00000310826.5	-	3	2972	c.2789T>G	c.(2788-2790)cTt>cGt	p.L930R	ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L729R|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L930R|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L930R	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	930					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										AGAGCACAGAAGCTCCTGGTG	0.512																																						ENST00000310826.5																			0											c.(2788-2790)cTt>cGt		zinc finger and BTB domain containing 21							80	74	76					21																	43411416		2203	4300	6503	SO:0001583	missense	49854							g.chr21:43411416A>C	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2789T>G	21.37:g.43411416A>C	ENSP00000308759:p.Leu930Arg					ZBTB21_ENST00000398511.3_Missense_Mutation_p.L930R|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L930R|ZBTB21_ENST00000398505.3_Missense_Mutation_p.L729R	p.L930R	NM_001098402.1	NP_001091872.1					3	2972	-								Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2789T>G	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094100	0.76870	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.87	5.87	0.94306	Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000008	T	0.51873	0.1700	N	0.10945	0.07	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62364	-0.6870	10	0.87932	D	0	-19.9548	16.2813	0.82687	1.0:0.0:0.0:0.0	.	729;930	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	R	729;930;930;930	ENSP00000381517:L729R;ENSP00000308759:L930R;ENSP00000381512:L930R;ENSP00000381523:L930R	ENSP00000308759:L930R	L	-	2	0	ZNF295	42284485	1.000000	0.71417	0.977000	0.42913	0.964000	0.63967	8.717000	0.91425	2.244000	0.73946	0.533000	0.62120	CTT		0.512	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		40	340	0	0	0	1	0	40	340					C	43411416	A	C	43411416	3	2	79	1	0	0	0	0	1	0	0	0	17880	72	3	4	415	4	ZNF295	21	43411416	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	99	43411416	4718479	20645	30962											
UMODL1	89766	broad.mit.edu	37	chr21	43504288	43504288	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagcttggacatcgaCtgtcctggacttgagaagtg	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43504288C>T	ENST00000408910.2	+	3	414	c.414C>T	c.(412-414)gaC>gaT	p.D138D	UMODL1_ENST00000400427.1_Silent_p.D66D|UMODL1_ENST00000400424.2_Silent_p.D66D|UMODL1_ENST00000408989.2_Silent_p.D138D	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	138	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGACATCGACTGTCCTGGAC	0.652																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(196-198)gaC>gaT		uromodulin-like 1							80	87	85					21																	43504288		1929	4134	6063	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43504288C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.414C>T	21.37:g.43504288C>T						UMODL1_ENST00000408910.2_Silent_p.D138D|UMODL1_ENST00000400424.1_Silent_p.D66D|UMODL1_ENST00000408989.2_Silent_p.D138D	p.D66D	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			3	594	+			138			EMI.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.198C>T	CCDS42936.1																																																																																				0.652	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			29	695	0	0	0	1	0	29	695					T	43504288	C	T	43504288	2	4	79	1	0	0	0	0	0	0	0	1	17034	564	20	2		2	UMODL1	21	43504288	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92872	43504288	4625607	20646	30963											
UMODL1	89766	broad.mit.edu	37	chr21	43508515	43508515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgccacggccactgCctgtggctgacgtctccacc	12	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	ENST00000408910.2	+	5	715	c.715C>T	c.(715-717)Cct>Tct	p.P239S	UMODL1_ENST00000400427.1_Missense_Mutation_p.P167S|UMODL1_ENST00000400424.2_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	239					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						ACGGCCACTGCCTGTGGCTGA	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(499-501)Cct>Tct		uromodulin-like 1							37	45	42					21																	43508515		2099	4239	6338	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43508515C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.715C>T	21.37:g.43508515C>T	ENSP00000386147:p.Pro239Ser					UMODL1_ENST00000408910.2_Missense_Mutation_p.P239S|UMODL1_ENST00000400424.1_Missense_Mutation_p.P167S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P239S	p.P167S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			5	895	+			239					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.499C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	0.590	-0.833284	0.02713	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462;ENST00000400417	T;T;T;T	0.71103	-0.54;-0.53;-0.54;-0.53	4.11	2.1	0.27182	.	0.338812	0.20703	N	0.087225	T	0.57489	0.2057	L	0.39633	1.23	0.19300	N	0.999975	P;B;B	0.35401	0.499;0.274;0.366	B;B;B	0.37833	0.102;0.259;0.047	T	0.42649	-0.9439	10	0.23302	T	0.38	-3.771	6.9479	0.24528	0.2053:0.6115:0.1832:0.0	.	167;239;239	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	S	167;167;239;239;85;85	ENSP00000383279:P167S;ENSP00000383276:P167S;ENSP00000386126:P239S;ENSP00000386147:P239S	ENSP00000369829:P85S	P	+	1	0	UMODL1	42381584	0.076000	0.21285	0.052000	0.19188	0.008000	0.06430	0.119000	0.15626	0.356000	0.24157	0.563000	0.77884	CCT		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			40	137	0	0	0	1	0	40	137					T	43508515	C	T	43508515	3	4	79	1	0	0	0	0	1	0	0	0	17034	739	26	2	733	2	UMODL1	21	43508515	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4227	43508515	4621380	20647	30964											
UMODL1	89766	broad.mit.edu	37	chr21	43547924	43547924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctgcatggaatcccccGgagccacgtgcaaaatcgta	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	ENST00000408910.2	+	20	3673	c.3673G>A	c.(3673-3675)Gga>Aga	p.G1225R	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.G1281R|UMODL1_ENST00000400424.2_Missense_Mutation_p.G1153R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1225	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAATCCCCCGGAGCCACGTG	0.453																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3841-3843)Gga>Aga		uromodulin-like 1							104	101	102					21																	43547924		1967	4151	6118	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547924G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3673G>A	21.37:g.43547924G>A	ENSP00000386147:p.Gly1225Arg					UMODL1_ENST00000408910.2_Missense_Mutation_p.G1225R|UMODL1_ENST00000400424.1_Missense_Mutation_p.G1153R|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1353R|UMODL1_ENST00000400423.2_3'UTR	p.G1281R	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			19	4237	+			1225					C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.3841G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	7.905	0.735203	0.15574	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	3.56	2.65	0.31530	Zona pellucida sperm-binding protein (3);	0.363130	0.19826	N	0.105183	T	0.74015	0.3661	L	0.34521	1.04	0.09310	N	1	P;P	0.50443	0.56;0.935	B;B	0.44163	0.112;0.443	T	0.64368	-0.6424	9	.	.	.	-3.8301	9.2905	0.37784	0.1065:0.0:0.8935:0.0	.	1353;1225	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1281;1153;1353;1225;110	ENSP00000383279:G1281R;ENSP00000383276:G1153R;ENSP00000386126:G1353R;ENSP00000386147:G1225R	.	G	+	1	0	UMODL1	42420993	0.672000	0.27530	0.002000	0.10522	0.130000	0.20726	2.925000	0.48884	1.048000	0.40298	0.561000	0.74099	GGA		0.453	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			20	327	0	0	0	1	0	20	327					A	43547924	G	A	43547924	3	1	79	1	0	0	0	0	1	0	0	0	17034	1117	39	1	4131	1	UMODL1	21	43547924	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39409	43547924	4581971	20648	30965											
ABCG1	9619	broad.mit.edu	37	chr21	43706095	43706095	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcccaacctaccacaacccaGcagattttggtaagcggagt	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43706095G>T	ENST00000361802.2	+	8	1109	c.964G>T	c.(964-966)Gca>Tca	p.A322S	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000398437.1_Missense_Mutation_p.A468S	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	322					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCACAACCCAGCAGATTTTGG	0.522																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1402-1404)Gca>Tca		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						143	144	144					21																	43706095		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43706095G>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.964G>T	21.37:g.43706095G>T	ENSP00000354995:p.Ala322Ser					ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A333S|ABCG1_ENST00000398457.2_Missense_Mutation_p.A324S|ABCG1_ENST00000361802.2_Missense_Mutation_p.A322S|ABCG1_ENST00000340588.4_Missense_Mutation_p.A430S|ABCG1_ENST00000398449.3_Missense_Mutation_p.A322S|ABCG1_ENST00000347800.2_Missense_Mutation_p.A319S	p.A468S			P45844	ABCG1_HUMAN			9	1550	+			322			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1402G>T	CCDS13682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409956|4.409956	0.83340|0.83340	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588|ENST00000489035;ENST00000469119;ENST00000482161	T;T;T;T;T;T;T|.	0.64260|.	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09|.	4.03|4.03	4.03|4.03	0.46877|0.46877	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.35793|0.35793	1.09|1.09	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.995;0.994;1.0;0.994;0.997;0.996|.	P;D;D;D;D;D|.	0.75484|.	0.893;0.95;0.983;0.95;0.976;0.986|.	T|T	0.56505|0.56505	-0.7968|-0.7968	9|5	.|.	.|.	.|.	-18.6548|-18.6548	16.5443|16.5443	0.84410|0.84410	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	333;333;322;322;319;324|.	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3|.	.;.;ABCG1_HUMAN;.;.;.|.	S|I	324;319;322;322;333;468;430|57	ENSP00000381475:A324S;ENSP00000291524:A319S;ENSP00000381467:A322S;ENSP00000354995:A322S;ENSP00000339744:A333S;ENSP00000381464:A468S;ENSP00000343820:A430S|.	.|.	A|S	+|+	1|2	0|0	ABCG1|ABCG1	42579164|42579164	1.000000|1.000000	0.71417|0.71417	0.720000|0.720000	0.30636|0.30636	0.956000|0.956000	0.61745|0.61745	8.930000|8.930000	0.92872|0.92872	1.930000|1.930000	0.55929|0.55929	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.522	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		153	561	1	0	5.4523e-64	1	6.88634e-64	153	561					T	43706095	G	T	43706095	3	4	79	1	0	0	0	0	1	0	0	0	68	971	34	3	1162	3	ABCG1	21	43706095	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158171	43706095	4423800	20649	30966											
ABCG1	9619	broad.mit.edu	37	chr21	43708092	43708092	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgactcagaccacaagagagAcctcgggggtgatgccgagg	15	10	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43708092A>G	ENST00000361802.2	+	9	1212	c.1067A>G	c.(1066-1068)gAc>gGc	p.D356G	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000398437.1_Missense_Mutation_p.D502G	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	356					amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CACAAGAGAGACCTCGGGGGT	0.547																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1504-1506)gAc>gGc		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						171	172	172					21																	43708092		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43708092A>G	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1067A>G	21.37:g.43708092A>G	ENSP00000354995:p.Asp356Gly					ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.D367G|ABCG1_ENST00000398457.2_Missense_Mutation_p.D358G|ABCG1_ENST00000361802.2_Missense_Mutation_p.D356G|ABCG1_ENST00000340588.4_Missense_Mutation_p.D464G|ABCG1_ENST00000398449.3_Missense_Mutation_p.D356G|ABCG1_ENST00000347800.2_Missense_Mutation_p.D353G	p.D502G			P45844	ABCG1_HUMAN			10	1653	+			356			ABC transmembrane type-2.		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1505A>G	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819420	0.50633	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;T;D;T;D;D	0.86562	0.93;0.93;0.93;-1.97;0.93;-2.14;-2.11	4.64	4.64	0.57946	.	0.570497	0.17962	N	0.156123	T	0.75686	0.3883	N	0.12746	0.255	0.51233	D	0.999913	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	0.08055	0.001;0.002;0.001;0.003;0.002;0.001	T	0.69034	-0.5252	9	.	.	.	-25.0065	14.0615	0.64802	1.0:0.0:0.0:0.0	.	367;367;356;356;353;358	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	G	358;353;356;356;367;502;464	ENSP00000381475:D358G;ENSP00000291524:D353G;ENSP00000381467:D356G;ENSP00000354995:D356G;ENSP00000339744:D367G;ENSP00000381464:D502G;ENSP00000343820:D464G	.	D	+	2	0	ABCG1	42581161	0.982000	0.34865	0.557000	0.28306	0.974000	0.67602	5.067000	0.64357	1.729000	0.51567	0.383000	0.25322	GAC		0.547	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		105	936	0	0	0	1	0	105	936					G	43708092	A	G	43708092	3	3	79	1	0	0	0	0	1	0	0	0	68	275	10	4	1269	4	ABCG1	21	43708092	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1997	43708092	4421803	20650	30967											
ABCG1	9619	broad.mit.edu	37	chr21	43716283	43716283	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcctcctaggtatgggttCgaaggggtcatcctctccat	10	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43716283C>T	ENST00000361802.2	+	15	1963	c.1818C>T	c.(1816-1818)ttC>ttT	p.F606F	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000347800.2_Silent_p.F591F|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000398437.1_Silent_p.F752F	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	606	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.F596F(2)|p.F606F(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587																																						ENST00000398437.1																			4	Substitution - coding silent(4)	p.F596F(2)|p.F606F(2)	large_intestine(4)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(2254-2256)ttC>ttT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						110	90	97					21																	43716283		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43716283C>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1818C>T	21.37:g.43716283C>T						ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.F605F|ABCG1_ENST00000398457.2_Silent_p.F596F|ABCG1_ENST00000361802.2_Silent_p.F606F|ABCG1_ENST00000340588.4_Silent_p.F714F|ABCG1_ENST00000398449.3_Silent_p.F594F|ABCG1_ENST00000347800.2_Silent_p.F591F	p.F752F			P45844	ABCG1_HUMAN			16	2404	+			606					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.2256C>T	CCDS13682.1																																																																																				0.587	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		57	203	0	0	0	1	0	57	203					T	43716283	C	T	43716283	2	4	79	1	0	0	0	0	0	0	0	1	68	883	31	1		1	ABCG1	21	43716283	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8191	43716283	4413612	20651	30968											
TFF1	7031	broad.mit.edu	37	chr21	43783485	43783485	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	acaccaggaaaaccacaattCtgtctttcacggggggccac	9	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43783485C>T	ENST00000291527.2	-	2	215	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	39	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|digestion (GO:0007586)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of cell proliferation (GO:0008285)|response to estradiol (GO:0032355)|response to iron ion (GO:0010039)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)				cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507																																						ENST00000291527.2																			0				cervix(1)|lung(1)	2						c.(115-117)caG>caA		trefoil factor 1							78	69	72					21																	43783485		2203	4300	6503	SO:0001819	synonymous_variant	7031				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity	g.chr21:43783485C>T	BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182			11755	protein-coding gene	gene with protein product		113710	"breast cancer, estrogen-inducible sequence expressed in"	BCEI		9043862	Standard	NM_003225		Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.117G>A	21.37:g.43783485C>T							p.Q39Q	NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN			2	215	-			39			P-type.			Silent	SNP	ENST00000291527.2	37	c.117G>A	CCDS13685.1																																																																																				0.507	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195361.1	NM_003225		38	157	0	0	0	1	0	38	157					T	43783485	C	T	43783485	2	4	79	1	0	0	0	0	0	0	0	1	15855	912	32	2		2	TFF1	21	43783485	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	67202	43783485	4346410	20652	30969											
TMPRSS3	64699	broad.mit.edu	37	chr21	43796726	43796726	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatgccaccgtacacgtccCtgtggttgcagatcttgttg	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43796726C>A	ENST00000291532.3	-	11	2073	c.1118G>T	c.(1117-1119)aGg>aTg	p.R373M	TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	373	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012). {ECO:0000305}.	cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTACACGTCCCTGTGGTTGCA	0.627																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(1117-1119)aGg>aTg		transmembrane protease, serine 3							185	165	172					21																	43796726		2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43796726C>A	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.1118G>T	21.37:g.43796726C>A	ENSP00000291532:p.Arg373Met					TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R370M|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R372M|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R457M	p.R373M	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			11	2073	-			373	ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).		Peptidase S1.		D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.1118G>T	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720711	0.68959	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.94	3.84	0.44239	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.135322	0.48286	D	0.000181	D	0.88228	0.6380	L	0.39085	1.19	0.28890	N	0.893885	P;P;D	0.55800	0.928;0.916;0.973	P;P;P	0.56960	0.667;0.726;0.81	T	0.82323	-0.0514	9	.	.	.	.	10.8134	0.46559	0.0:0.8328:0.0:0.1672	.	372;373;370	P57727-5;P57727;B7WPR2	.;TMPS3_HUMAN;.	M	373;372;370;457	ENSP00000291532:R373M;ENSP00000411013:R372M;ENSP00000381442:R370M;ENSP00000369762:R457M	.	R	-	2	0	TMPRSS3	42669795	0.972000	0.33761	1.000000	0.80357	0.953000	0.61014	2.005000	0.40864	2.269000	0.75478	0.591000	0.81541	AGG		0.627	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			224	762	1	0	9.29173e-92	1	1.19331e-91	224	762					A	43796726	C	A	43796726	3	1	79	1	0	0	0	0	1	0	0	0	16300	681	24	3	258	3	TMPRSS3	21	43796726	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13241	43796726	4333169	20653	30970											
TMPRSS3	64699	broad.mit.edu	37	chr21	43815520	43815520	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagcaggcggatcattttCccccatggtgactatttcag	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43815520C>T	ENST00000291532.3	-	2	962	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	3					cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGATCATTTTCCCCCATGGTG	0.493																																						ENST00000291532.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						c.(7-9)Gaa>Aaa		transmembrane protease, serine 3							103	88	93					21																	43815520		2203	4300	6503	SO:0001583	missense	64699				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity	g.chr21:43815520C>T	AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.7G>A	21.37:g.43815520C>T	ENSP00000291532:p.Glu3Lys					TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E3K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E3K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E87K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E3K	p.E3K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN			2	962	-			3					D3DSJ6|Q5USC7|Q6ZMC3	Missense_Mutation	SNP	ENST00000291532.3	37	c.7G>A	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403758	0.62288	.	.	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.89270	-2.42;-2.43;-2.42;-2.32;-2.49	5.39	4.49	0.54785	.	0.196987	0.34603	N	0.003830	D	0.88607	0.6482	N	0.24115	0.695	0.33055	D	0.533259	D;D;D	0.67145	0.996;0.996;0.993	P;D;D	0.76071	0.895;0.987;0.971	D	0.88057	0.2791	9	.	.	.	.	10.577	0.45233	0.0:0.9064:0.0:0.0936	.	3;3;3	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	K	3;3;3;87;3	ENSP00000291532:E3K;ENSP00000411013:E3K;ENSP00000381442:E3K;ENSP00000369762:E87K;ENSP00000381434:E3K	.	E	-	1	0	TMPRSS3	42688589	0.990000	0.36364	0.993000	0.49108	0.852000	0.48524	2.010000	0.40913	2.691000	0.91804	0.655000	0.94253	GAA		0.493	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			13	158	0	0	0	1	0	13	158					T	43815520	C	T	43815520	3	4	79	1	0	0	0	0	1	0	0	0	16300	864	30	2	1488	2	TMPRSS3	21	43815520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18794	43815520	4314375	20654	30971											
UBASH3A	53347	broad.mit.edu	37	chr21	43846890	43846890	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcggggaatttcttccAcaaacggcaaggagtcttag	12	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43846890A>G	ENST00000319294.6	+	8	1162	c.1131A>G	c.(1129-1131)ccA>ccG	p.P377P	UBASH3A_ENST00000291535.6_Silent_p.P339P|UBASH3A_ENST00000398367.1_Silent_p.P339P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	377					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						AATTTCTTCCACAAACGGCAA	0.448																																						ENST00000319294.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1129-1131)ccA>ccG		ubiquitin associated and SH3 domain containing A							115	102	106					21																	43846890		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43846890A>G	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.1131A>G	21.37:g.43846890A>G						UBASH3A_ENST00000398367.1_Silent_p.P339P|UBASH3A_ENST00000291535.6_Silent_p.P339P	p.P377P	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN			8	1162	+			377					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1131A>G	CCDS13687.1																																																																																				0.448	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		78	282	0	0	0	1	0	78	282					G	43846890	A	G	43846890	2	3	79	1	0	0	0	0	0	0	0	1	16893	146	6	4		4	UBASH3A	21	43846890	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	31370	43846890	4283005	20655	30972											
PDE9A	5152	broad.mit.edu	37	chr21	44119111	44119111	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgagacctgtggccatcaaGcaactctccggtaaggccct	11	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44119111G>T	ENST00000291539.6	+	4	312	c.252G>T	c.(250-252)aaG>aaT	p.K84N	PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	84					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)	TGGCCATCAAGCAACTCTCCG	0.468																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(250-252)aaG>aaT		phosphodiesterase 9A							93	84	87					21																	44119111		2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44119111G>T	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.252G>T	21.37:g.44119111G>T	ENSP00000291539:p.Lys84Asn					PDE9A_ENST00000335512.4_Missense_Mutation_p.K84N|PDE9A_ENST00000398224.3_Missense_Mutation_p.K17N|PDE9A_ENST00000398225.3_Missense_Mutation_p.K43N|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000328862.6_Missense_Mutation_p.K58N|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000335440.6_Missense_Mutation_p.A61S|PDE9A_ENST00000398234.3_Missense_Mutation_p.K43N|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000398232.3_Missense_Mutation_p.K17N|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398236.3_Missense_Mutation_p.K58N|PDE9A_ENST00000380328.2_Missense_Mutation_p.A110S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A35S	p.K84N	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			4	312	+			84					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.252G>T	CCDS13690.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.981|9.981	1.228164|1.228164	0.22542|0.22542	.|.	.|.	ENSG00000160191|ENSG00000160191	ENST00000380328;ENST00000335440;ENST00000349112|ENST00000335512;ENST00000291539;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000398225;ENST00000398224	T;T;T|T;T;T;T;T;T;T;T	0.68765|0.69435	-0.28;-0.35;-0.26|-0.37;-0.38;-0.39;-0.38;-0.33;-0.37;-0.4;-0.33	4.19|4.19	2.18|2.18	0.27775|0.27775	.|.	.|4.256290	.|0.01036	.|U	.|0.004236	T|T	0.75042|0.75042	0.3796|0.3796	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;B;B|D;B;B;B;D;B;B;B;B	0.32101|0.76494	0.229;0.356;0.356|0.999;0.001;0.001;0.001;0.999;0.001;0.002;0.0;0.002	B;B;B|D;B;B;B;D;B;B;B;B	0.32090|0.78314	0.099;0.14;0.14|0.991;0.002;0.002;0.004;0.991;0.002;0.004;0.001;0.004	T|T	0.69101|0.69101	-0.5234|-0.5234	8|9	0.27082|0.17369	T|T	0.32|0.5	.|.	5.1173|5.1173	0.14840|0.14840	0.2781:0.0:0.7219:0.0|0.2781:0.0:0.7219:0.0	.|.	35;61;110|17;58;43;58;43;36;84;17;84	O76083-4;O76083-12;O76083-5|O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-3;O76083	.;.;.|.;.;.;.;.;.;.;.;PDE9A_HUMAN	S|N	110;61;35|84;84;17;43;58;58;43;17	ENSP00000369685:A110S;ENSP00000335365:A61S;ENSP00000344730:A35S|ENSP00000335242:K84N;ENSP00000291539:K84N;ENSP00000381287:K17N;ENSP00000381289:K43N;ENSP00000381291:K58N;ENSP00000328699:K58N;ENSP00000381281:K43N;ENSP00000381280:K17N	ENSP00000335365:A61S|ENSP00000291539:K84N	A|K	+|+	1|3	0|2	PDE9A|PDE9A	42992180|42992180	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.671000|1.671000	0.37513|0.37513	0.984000|0.984000	0.38629|0.38629	0.514000|0.514000	0.50259|0.50259	GCA|AAG		0.468	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			17	310	1	0	7.07596e-05	1	7.20791e-05	17	310					T	44119111	G	T	44119111	3	4	79	1	0	0	0	0	1	0	0	0	11697	971	34	3	346	3	PDE9A	21	44119111	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	272221	44119111	4010784	20656	30973											
WDR4	10785	broad.mit.edu	37	chr21	44272427	44272427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttaacacggtgctctcaGgaacagactgcaggcgacaa	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44272427G>A	ENST00000398208.2	-	10	1042	c.983C>T	c.(982-984)cCt>cTt	p.P328L	WDR4_ENST00000330317.2_Missense_Mutation_p.P328L|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGTGCTCTCAGGAACAGACTG	0.567																																						ENST00000398208.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11						c.(982-984)cCt>cTt		WD repeat domain 4							80	63	69					21																	44272427		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44272427G>A	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.983C>T	21.37:g.44272427G>A	ENSP00000381266:p.Pro328Leu					WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.P328L	p.P328L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	10	1042	-			328						Missense_Mutation	SNP	ENST00000398208.2	37	c.983C>T	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875627	0.33162	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.60171	0.21;0.21	4.12	3.21	0.36854	.	0.441052	0.24054	N	0.041971	T	0.47432	0.1445	M	0.62723	1.935	0.20403	N	0.999908	B;B	0.33583	0.418;0.07	B;B	0.31101	0.124;0.014	T	0.30416	-0.9979	10	0.11485	T	0.65	-3.186	9.7814	0.40651	0.0:0.2104:0.7896:0.0	.	327;328	P57081-2;P57081	.;WDR4_HUMAN	L	328	ENSP00000328671:P328L;ENSP00000381266:P328L	ENSP00000328671:P328L	P	-	2	0	WDR4	43145496	0.782000	0.28689	0.264000	0.24511	0.026000	0.11368	1.200000	0.32247	1.048000	0.40298	0.655000	0.94253	CCT		0.567	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			33	99	0	0	0	1	0	33	99					A	44272427	G	A	44272427	3	1	79	1	0	0	0	0	1	0	0	0	17347	1000	35	2	263	2	WDR4	21	44272427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153316	44272427	3857468	20657	30974											
NDUFV3	4731	broad.mit.edu	37	chr21	44324264	44324264	+	Intron	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gataccaccaagcaatttggAgacagttcctgttgagaata	9	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44324264A>G	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.E381G|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AGCAATTTGGAGACAGTTCCT	0.562																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1141-1143)gAg>gGg		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						72	65	67					21																	44324264		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44324264A>G		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4710A>G	21.37:g.44324264A>G						NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR	p.E381G	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1211	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1142A>G	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.726345	0.30593	.	.	ENSG00000160194	ENST00000354250	.	.	.	3.98	2.8	0.32819	.	0.616685	0.14368	N	0.323983	T	0.21631	0.0521	N	0.19112	0.55	0.09310	N	0.999997	B	0.32160	0.358	B	0.29785	0.107	T	0.15009	-1.0452	9	0.66056	D	0.02	-3.5623	6.7624	0.23548	0.8858:0.0:0.1142:0.0	.	381	P56181-2	.	G	381	.	ENSP00000346196:E381G	E	+	2	0	NDUFV3	43197333	0.000000	0.05858	0.031000	0.17742	0.058000	0.15608	0.493000	0.22451	0.641000	0.30601	0.459000	0.35465	GAG		0.562	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			44	175	0	0	0	1	0	44	175					G	44324264	A	G	44324264	1	3	79	0	1	0	0	0	0	0	0	0	10343	304	11	4		4	NDUFV3	21	44324264	Intron	SNP	A	TCGA-IB-7651-01A-11D-2154-08	51837	44324264	3805631	20658	30975											
PKNOX1	5316	broad.mit.edu	37	chr21	44433326	44433326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagtggagagcctggaagccCgtactcaccagtgcagtccc	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44433326C>T	ENST00000291547.5	+	5	711	c.500C>T	c.(499-501)cCg>cTg	p.P167L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	167					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCTGGAAGCCCGTACTCACCA	0.473																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(499-501)cCg>cTg		PBX/knotted 1 homeobox 1							92	94	93					21																	44433326		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44433326C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.500C>T	21.37:g.44433326C>T	ENSP00000291547:p.Pro167Leu					PKNOX1_ENST00000432907.2_Missense_Mutation_p.P50L	p.P167L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			5	711	+			167					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.500C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943085	0.92526	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	T;D	0.86562	1.71;-2.14	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.92984	0.7767	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.963;0.998;0.963	D	0.92313	0.5859	10	0.48119	T	0.1	-12.5469	19.5829	0.95475	0.0:1.0:0.0:0.0	.	167;167;167	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	167;50	ENSP00000291547:P167L;ENSP00000402243:P50L	ENSP00000291547:P167L	P	+	2	0	PKNOX1	43306395	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	5.690000	0.68241	2.636000	0.89361	0.561000	0.74099	CCG		0.473	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			33	343	0	0	0	1	0	33	343					T	44433326	C	T	44433326	3	4	79	1	0	0	0	0	1	0	0	0	12024	652	23	1	514	1	PKNOX1	21	44433326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109062	44433326	3696569	20659	30976											
CBS	875	broad.mit.edu	37	chr21	44486459	44486459	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggtccttcacgctcccGcccgcgttgaagaactcaca	9	16	2	2	rs374438247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44486459G>A	ENST00000398165.3	-	5	604	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Silent_p.G27G|CBS_ENST00000352178.5_Silent_p.G115G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	115					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	TCACGCTCCCGCCCGCGTTGA	0.627																																						ENST00000398165.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(343-345)ggC>ggT		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	G	,,	1,4405	2.1+/-5.4	0,1,2202	69	63	65		345,345,345	-3.3	1	21		65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CBS	NM_000071.2,NM_001178008.1,NM_001178009.1	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	115/552,115/552,115/552	44486459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44486459G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.345C>T	21.37:g.44486459G>A						CBS_ENST00000470912.1_5'UTR|CBS_ENST00000352178.5_Silent_p.G115G|CBS_ENST00000398158.1_Silent_p.G115G|CBS_ENST00000359624.3_Silent_p.G115G|CBS_ENST00000398168.1_Silent_p.G115G|CBS_ENST00000544202.1_Silent_p.G27G	p.G115G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN			5	604	-			115					B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	ENST00000398165.3	37	c.345C>T	CCDS13693.1																																																																																				0.627	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	NM_000071		50	398	0	0	0	1	0	50	398					A	44486459	G	A	44486459	2	1	79	1	0	0	0	0	0	0	0	1	2718	1074	38	1		1	CBS	21	44486459	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53133	44486459	3643436	20660	30977											
CRYAA	1409	broad.mit.edu	37	chr21	44589368	44589368	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tactaccgccagtccctcttCcgcaccgtgctggactccgg	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44589368C>T	ENST00000291554.2	+	1	251	c.159C>T	c.(157-159)ttC>ttT	p.F53F	CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	53					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGTCCCTCTTCCGCACCGTGC	0.637																																						ENST00000291554.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(157-159)ttC>ttT		crystallin, alpha A							135	124	127					21																	44589368		2203	4300	6503	SO:0001819	synonymous_variant	1409				anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	g.chr21:44589368C>T		CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"Heat shock proteins / HSPB"	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.159C>T	21.37:g.44589368C>T						CRYAA_ENST00000482775.1_3'UTR	p.F53F	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN			1	251	+			53					Q53X53	Silent	SNP	ENST00000291554.2	37	c.159C>T	CCDS13695.1																																																																																				0.637	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195562.1			70	641	0	0	0	1	0	70	641					T	44589368	C	T	44589368	2	4	79	1	0	0	0	0	0	0	0	1	3914	854	30	2		2	CRYAA	21	44589368	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	102909	44589368	3540527	20661	30978											
SIK1	150094	broad.mit.edu	37	chr21	44839359	44839359	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaccttcctgaggcacCtggggccggcagacgggaaa	15	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44839359C>A	ENST00000270162.6	-	10	1252		c.e10-1			NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1						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)	CCTGAGGCACCTGGGGCCGGC	0.627																																						ENST00000270162.6																			0				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						c.e10-1		salt-inducible kinase 1							41	45	44					21																	44839359		2202	4300	6502	SO:0001630	splice_region_variant	150094				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr21:44839359C>A	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.1120-1G>T	21.37:g.44839359C>A								NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN			10	1252	-								A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Splice_Site	SNP	ENST00000270162.6	37		CCDS33575.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236820	0.39498	.	.	ENSG00000142178	ENST00000270162	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.805	0.78491	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIK1	43663787	1.000000	0.71417	0.738000	0.30950	0.167000	0.22549	4.725000	0.61979	2.400000	0.81607	0.561000	0.74099	.		0.627	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195654.1	NM_173354	Intron	49	220	1	0	1.32667e-27	1	1.53764e-27	49	220					A	44839359	C	A	44839359	5	1	79	1	0	0	0	0	0	0	1	0	14367	695	24	3	1252	3	SIK1	21	44839359	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249991	44839359	3290536	20662	30979											
HSF2BP	11077	broad.mit.edu	37	chr21	45064180	45064180	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcatggtaccttcttctctCttatgttgtcggcctgcacg	9	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064180C>T	ENST00000291560.2	-	4	612	c.281G>A	c.(280-282)aGa>aAa	p.R94K	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	94					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTTCTTCTCTCTTATGTTGTC	0.483																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(280-282)aGa>aAa		heat shock transcription factor 2 binding protein							153	123	133					21																	45064180		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45064180C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.281G>A	21.37:g.45064180C>T	ENSP00000291560:p.Arg94Lys					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R19K	p.R94K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	4	612	-			94					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.281G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	2.675	-0.276662	0.05679	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	1.14	0.20703	.	0.443449	0.26832	N	0.022271	T	0.24851	0.0603	L	0.28740	0.885	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.23261	-1.0193	9	0.10377	T	0.69	-22.739	9.5457	0.39279	0.0:0.5966:0.0:0.4034	.	94	O75031	HSF2B_HUMAN	K	94;19;94	.	ENSP00000291560:R94K	R	-	2	0	HSF2BP	43888608	0.015000	0.18098	0.019000	0.16419	0.119000	0.20118	0.153000	0.16323	0.298000	0.22638	0.655000	0.94253	AGA		0.483	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		28	313	0	0	0	1	0	28	313					T	45064180	C	T	45064180	3	4	79	1	0	0	0	0	1	0	0	0	7427	913	32	2	747	2	HSF2BP	21	45064180	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	224821	45064180	3065715	20663	30980											
HSF2BP	11077	broad.mit.edu	37	chr21	45064210	45064210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcctgcacggtttccaggCgggctttaaagtgctcacaa	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064210C>T	ENST00000291560.2	-	4	582	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	84					spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTTTCCAGGCGGGCTTTAAA	0.458																																						ENST00000291560.2																			0				kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7						c.(250-252)cGc>cAc		heat shock transcription factor 2 binding protein							164	147	153					21																	45064210		2203	4300	6503	SO:0001583	missense	11077				spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding	g.chr21:45064210C>T	AB007131	CCDS13697.1	21q22.3	2008-07-31			ENSG00000160207	ENSG00000160207			5226	protein-coding gene	gene with protein product	"heat shock factor 2 binding protein"	604554				9651507	Standard	XM_005261090		Approved		uc002zdi.3	O75031	OTTHUMG00000086863	ENST00000291560.2:c.251G>A	21.37:g.45064210C>T	ENSP00000291560:p.Arg84His					HSF2BP_ENST00000542962.1_Missense_Mutation_p.R9H	p.R84H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)	4	582	-			84					B4DX36	Missense_Mutation	SNP	ENST00000291560.2	37	c.251G>A	CCDS13697.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848928	0.91277	.	.	ENSG00000160207	ENST00000291560;ENST00000542962;ENST00000443485	.	.	.	5.48	5.48	0.80851	.	0.057115	0.64402	D	0.000001	T	0.71771	0.3379	M	0.63428	1.95	0.54753	D	0.999988	D	0.63046	0.992	P	0.53861	0.736	T	0.75033	-0.3460	9	0.72032	D	0.01	-10.2094	17.1439	0.86761	0.0:1.0:0.0:0.0	.	84	O75031	HSF2B_HUMAN	H	84;9;84	.	ENSP00000291560:R84H	R	-	2	0	HSF2BP	43888638	0.998000	0.40836	0.998000	0.56505	0.988000	0.76386	2.549000	0.45803	2.576000	0.86940	0.655000	0.94253	CGC		0.458	HSF2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195620.1	NM_007031		30	389	0	0	0	1	0	30	389					T	45064210	C	T	45064210	3	4	79	1	0	0	0	0	1	0	0	0	7427	768	27	1	777	1	HSF2BP	21	45064210	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30	45064210	3065685	20664	30981											
PDXK	8566	broad.mit.edu	37	chr21	45173522	45173522	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggacattcgcaaagtggaCgccgtctttgtgggcactgg	14	9	1	0	rs200762097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45173522C>T	ENST00000291565.4	+	9	864	c.681C>T	c.(679-681)gaC>gaT	p.D227D	PDXK_ENST00000467908.1_Silent_p.D187D|PDXK_ENST00000468090.1_Silent_p.D199D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	227					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GCAAAGTGGACGCCGTCTTTG	0.607													c|||	2	0.000399361	0.0	0.0	5008	,	,		21044	0.002		0.0	False		,,,				2504	0.0					ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(679-681)gaC>gaT		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)	T		1,4405	2.1+/-5.4	0,1,2202	212	161	178		681	-4.8	0.6	21		178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDXK	NM_003681.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		227/313	45173522	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45173522C>T	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"chromosome 21 open reading frame 97", "chromosome 21 open reading frame 124"	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.681C>T	21.37:g.45173522C>T						PDXK_ENST00000468090.1_Silent_p.D199D|PDXK_ENST00000467908.1_Silent_p.D187D	p.D227D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	9	864	+			227					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.681C>T	CCDS13699.1																																																																																				0.607	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		26	186	0	0	0	1	0	26	186					T	45173522	C	T	45173522	2	4	79	1	0	0	0	0	0	0	0	1	11739	535	19	1		1	PDXK	21	45173522	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109312	45173522	2956373	20665	30982											
PDXK	8566	broad.mit.edu	37	chr21	45175635	45175635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctgcagaggaccatccaGtgtgcaaaaggtacggcggc	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45175635G>A	ENST00000291565.4	+	10	999	c.816G>A	c.(814-816)caG>caA	p.Q272Q	PDXK_ENST00000467908.1_Silent_p.Q232Q|PDXK_ENST00000468090.1_Silent_p.Q244Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	272					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGACCATCCAGTGTGCAAAAG	0.622																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(814-816)caG>caA		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						122	92	103					21																	45175635		2203	4300	6503	SO:0001819	synonymous_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45175635G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"chromosome 21 open reading frame 97", "chromosome 21 open reading frame 124"	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.816G>A	21.37:g.45175635G>A						PDXK_ENST00000468090.1_Silent_p.Q244Q|PDXK_ENST00000467908.1_Silent_p.Q232Q	p.Q272Q	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	10	999	+			272					Q7Z2Y0|Q9BS02	Silent	SNP	ENST00000291565.4	37	c.816G>A	CCDS13699.1																																																																																				0.622	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		47	395	0	0	0	1	0	47	395					A	45175635	G	A	45175635	2	1	79	1	0	0	0	0	0	0	0	1	11739	1020	36	2		2	PDXK	21	45175635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2113	45175635	2954260	20666	30983											
AGPAT3	56894	broad.mit.edu	37	chr21	45379592	45379592	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctggccttcctgaagacccaGttcgtgctgcacctgctggt	11	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45379592G>T	ENST00000398063.2	+	2	522	c.30G>T	c.(28-30)caG>caT	p.Q10H	AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	10					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)		TGAAGACCCAGTTCGTGCTGC	0.642																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(28-30)caG>caT		1-acylglycerol-3-phosphate O-acyltransferase 3							129	99	109					21																	45379592		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45379592G>T	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.30G>T	21.37:g.45379592G>T	ENSP00000381140:p.Gln10His					AGPAT3_ENST00000398061.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.Q10H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.Q10H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.Q10H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.Q10H	p.Q10H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	2	522	+			10					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.30G>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215506	0.39102	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000448845;ENST00000422850;ENST00000546158	T;T;T;T;T;T;T;T	0.44881	1.49;1.49;1.49;1.49;1.49;0.91;0.91;1.49	4.43	3.54	0.40534	.	2.255560	0.01928	N	0.040995	T	0.46132	0.1377	L	0.57536	1.79	0.40417	D	0.979809	B	0.20671	0.047	B	0.23419	0.046	T	0.21314	-1.0249	10	0.15066	T	0.55	-7.4377	13.7342	0.62807	0.0:0.0:0.8447:0.1553	.	10	Q9NRZ7	PLCC_HUMAN	H	10	ENSP00000291572:Q10H;ENSP00000381138:Q10H;ENSP00000332989:Q10H;ENSP00000381140:Q10H;ENSP00000381135:Q10H;ENSP00000413906:Q10H;ENSP00000414440:Q10H;ENSP00000443510:Q10H	ENSP00000291572:Q10H	Q	+	3	2	AGPAT3	44204020	1.000000	0.71417	0.972000	0.41901	0.513000	0.34164	3.553000	0.53713	0.843000	0.35070	0.398000	0.26397	CAG		0.642	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		123	411	1	0	3.8324e-49	1	4.73866e-49	123	411					T	45379592	G	T	45379592	3	4	79	1	0	0	0	0	1	0	0	0	388	1020	36	3	32	3	AGPAT3	21	45379592	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203957	45379592	2750303	20667	30984											
AGPAT3	56894	broad.mit.edu	37	chr21	45402199	45402199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgaaagcttcctttggagttCgcagactgataggagtaact	11	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45402199C>T	ENST00000398063.2	+	9	1549	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	353					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)	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			1	Substitution - Missense(1)	p.R353C(1)	large_intestine(1)	large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(1057-1059)Cgc>Tgc		1-acylglycerol-3-phosphate O-acyltransferase 3							146	159	155					21																	45402199		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45402199C>T	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.1057C>T	21.37:g.45402199C>T	ENSP00000381140:p.Arg353Cys					AGPAT3_ENST00000398061.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R353C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R353C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R353C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R353C	p.R353C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	9	1549	+			353					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.1057C>T	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978796	0.92982	.	.	ENSG00000160216	ENST00000291572;ENST00000398061;ENST00000327505;ENST00000398063;ENST00000398058;ENST00000546158	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.77557	0.99;0.856	D	0.89582	0.3821	10	0.66056	D	0.02	-20.5082	17.7067	0.88310	0.0:1.0:0.0:0.0	.	373;353	Q9NRZ7-3;Q9NRZ7	.;PLCC_HUMAN	C	353	ENSP00000291572:R353C;ENSP00000381138:R353C;ENSP00000332989:R353C;ENSP00000381140:R353C;ENSP00000381135:R353C;ENSP00000443510:R353C	ENSP00000291572:R353C	R	+	1	0	AGPAT3	44226627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.046000	0.64226	2.409000	0.81822	0.563000	0.77884	CGC		0.448	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		108	832	0	0	0	1	0	108	832					T	45402199	C	T	45402199	3	4	79	1	0	0	0	0	1	0	0	0	388	884	31	1	1087	1	AGPAT3	21	45402199	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22607	45402199	2727696	20668	30985											
TRAPPC10	7109	broad.mit.edu	37	chr21	45483547	45483547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagccaccctgttagatctgCgcagttacctgttctctcgc	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45483547C>T	ENST00000291574.4	+	7	1094	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	307					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.R307C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTAGATCTGCGCAGTTACCT	0.587																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.R307C(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(919-921)Cgc>Tgc		trafficking protein particle complex 10							127	117	121					21																	45483547		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45483547C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.919C>T	21.37:g.45483547C>T	ENSP00000291574:p.Arg307Cys						p.R307C	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			7	1094	+			307					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.919C>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559292	0.86335	.	.	ENSG00000160218	ENST00000291574	T	0.49432	0.78	5.74	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79771	-0.1663	10	0.87932	D	0	.	14.9421	0.71003	0.0:0.9309:0.0:0.0691	.	307	P48553	TPC10_HUMAN	C	307	ENSP00000291574:R307C	ENSP00000291574:R307C	R	+	1	0	TRAPPC10	44307975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.640000	0.67875	1.422000	0.47177	0.655000	0.94253	CGC		0.587	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		83	367	0	0	0	1	0	83	367					T	45483547	C	T	45483547	3	4	79	1	0	0	0	0	1	0	0	0	16510	768	27	1	945	1	TRAPPC10	21	45483547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81348	45483547	2646348	20669	30986											
TRAPPC10	7109	broad.mit.edu	37	chr21	45507691	45507691	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atttgaactggaagttctctCtttaccttcagccccagcac	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45507691C>T	ENST00000291574.4	+	17	2826	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	884					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAGTTCTCTCTTTACCTTCA	0.577																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2650-2652)tCt>tTt		trafficking protein particle complex 10							107	92	97					21																	45507691		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45507691C>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2651C>T	21.37:g.45507691C>T	ENSP00000291574:p.Ser884Phe						p.S884F	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			17	2826	+			884					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2651C>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491547	0.44249	.	.	ENSG00000160218	ENST00000291574	T	0.23552	1.9	4.9	3.95	0.45737	.	0.114895	0.64402	D	0.000015	T	0.13030	0.0316	N	0.14661	0.345	0.39632	D	0.970182	B	0.25955	0.138	B	0.17979	0.02	T	0.08513	-1.0718	10	0.40728	T	0.16	.	7.5482	0.27778	0.2916:0.5759:0.1325:0.0	.	884	P48553	TPC10_HUMAN	F	884	ENSP00000291574:S884F	ENSP00000291574:S884F	S	+	2	0	TRAPPC10	44332119	1.000000	0.71417	0.903000	0.35520	0.980000	0.70556	3.821000	0.55700	2.267000	0.75376	0.563000	0.77884	TCT		0.577	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		74	272	0	0	0	1	0	74	272					T	45507691	C	T	45507691	3	4	79	1	0	0	0	0	1	0	0	0	16510	913	32	2	2717	2	TRAPPC10	21	45507691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24144	45507691	2622204	20670	30987											
TRAPPC10	7109	broad.mit.edu	37	chr21	45522699	45522699	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagtgtgtgggaaaagCtgcggtgtcatctccatgcc	15	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45522699C>A	ENST00000291574.4	+	22	3562	c.3387C>A	c.(3385-3387)agC>agA	p.S1129R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1129					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGGGAAAAGCTGCGGTGTCA	0.592																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(3385-3387)agC>agA		trafficking protein particle complex 10							166	158	161					21																	45522699		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45522699C>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.3387C>A	21.37:g.45522699C>A	ENSP00000291574:p.Ser1129Arg						p.S1129R	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			22	3562	+			1129					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.3387C>A	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655720	0.67586	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.26660	1.72	5.49	-0.441	0.12257	.	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.34875	-0.9811	10	0.87932	D	0	.	12.5211	0.56060	0.0:0.6282:0.0:0.3718	.	388;1129	B4DI17;P48553	.;TPC10_HUMAN	R	1129;260	ENSP00000291574:S1129R	ENSP00000291574:S1129R	S	+	3	2	TRAPPC10	44347127	0.437000	0.25593	0.954000	0.39281	0.922000	0.55478	-0.330000	0.07925	-0.043000	0.13513	-0.345000	0.07892	AGC		0.592	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		160	682	1	0	3.66178e-69	1	4.64609e-69	160	682					A	45522699	C	A	45522699	3	1	79	1	0	0	0	0	1	0	0	0	16510	796	28	3	3473	3	TRAPPC10	21	45522699	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15008	45522699	2607196	20671	30988											
PWP2	5822	broad.mit.edu	37	chr21	45533719	45533719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggccgcctcgctatcatcGtcgatgaaggtacttgccct	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45533719G>A	ENST00000291576.7	+	3	344	c.217G>A	c.(217-219)Gtc>Atc	p.V73I		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	73					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)		CGCTATCATCGTCGATGAAGG	0.587																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(217-219)Gtc>Atc		PWP2 periodic tryptophan protein homolog (yeast)							59	50	53					21																	45533719		2202	4300	6502	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45533719G>A		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.217G>A	21.37:g.45533719G>A	ENSP00000291576:p.Val73Ile						p.V73I	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	3	344	+			73					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.217G>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938033	0.34189	.	.	ENSG00000241945	ENST00000291576;ENST00000456705	T;T	0.42513	0.97;1.49	4.33	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.165612	0.40818	N	0.001018	T	0.26919	0.0659	L	0.31065	0.9	0.36215	D	0.851596	B	0.22003	0.063	B	0.12837	0.008	T	0.20140	-1.0284	10	0.25106	T	0.35	0.0094	9.1753	0.37107	0.1912:0.0:0.8088:0.0	.	73	Q15269	PWP2_HUMAN	I	73	ENSP00000291576:V73I;ENSP00000411749:V73I	ENSP00000291576:V73I	V	+	1	0	PWP2	44358147	0.940000	0.31905	0.996000	0.52242	0.039000	0.13416	1.504000	0.35726	2.148000	0.66965	0.313000	0.20887	GTC		0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		34	164	0	0	0	1	0	34	164					A	45533719	G	A	45533719	3	1	79	1	0	0	0	0	1	0	0	0	12894	1145	40	1	227	1	PWP2	21	45533719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11020	45533719	2596176	20672	30989											
ICOSLG	23308	broad.mit.edu	37	chr21	45657062	45657062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcgcagctgagctccacgtCgctgcctaccatcgctctga	10	16	1	2	rs368372298		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45657062C>T	ENST00000407780.3	-	3	221	c.94G>A	c.(94-96)Gac>Aac	p.D32N	ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	32	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AGCTCCACGTCGCTGCCTACC	0.498																																						ENST00000407780.3																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(94-96)Gac>Aac		inducible T-cell co-stimulator ligand							76	83	81					21																	45657062		2085	4227	6312	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45657062C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Endogenous ligands"	17087	protein-coding gene	gene with protein product	"B7-related protein 1", "B7 homologue 2", "B7 homolog 2"	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.94G>A	21.37:g.45657062C>T	ENSP00000384432:p.Asp32Asn					ICOSLG_ENST00000344330.4_Missense_Mutation_p.D32N|ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.D32N	p.D32N			O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	221	-			32			Ig-like V-type.		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.94G>A	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717906	0.15372	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379	T;T;T	0.62232	0.04;0.04;0.04	4.68	-4.85	0.03142	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.445410	0.04345	N	0.354666	T	0.41971	0.1182	N	0.21373	0.66	0.09310	N	1	B;B	0.34147	0.438;0.438	B;B	0.26310	0.068;0.068	T	0.24584	-1.0156	10	0.12430	T	0.62	.	12.777	0.57455	0.0:0.2087:0.0:0.7913	.	32;32	A0N0L8;O75144	.;ICOSL_HUMAN	N	32	ENSP00000339477:D32N;ENSP00000384432:D32N;ENSP00000383230:D32N	ENSP00000339477:D32N	D	-	1	0	ICOSLG	44481490	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.503000	0.06383	-1.045000	0.03250	-0.150000	0.13652	GAC		0.498	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259		41	338	0	0	0	1	0	41	338					T	45657062	C	T	45657062	3	4	79	1	0	0	0	0	1	0	0	0	7517	884	31	1	834	1	ICOSLG	21	45657062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123343	45657062	2472833	20673	30990											
DNMT3L	29947	broad.mit.edu	37	chr21	45666402	45666402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctctgcttgttctgggCcagcagggacaattcttctt	11	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45666402C>T	ENST00000418993.1	-	12	1522	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	DNMT3L_ENST00000270172.3_Missense_Mutation_p.A348T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	347					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGTTCTGGGCCAGCAGGGAC	0.567																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(1042-1044)Gcc>Acc		DNA (cytosine-5-)-methyltransferase 3-like							42	41	41					21																	45666402		2203	4299	6502	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45666402C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1039G>A	21.37:g.45666402C>T	ENSP00000412862:p.Ala347Thr					DNMT3L_ENST00000418993.1_Missense_Mutation_p.A347T	p.A348T	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	12	1525	-			347					E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.1042G>A	CCDS46650.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.979|8.979	0.974906|0.974906	0.18736|0.18736	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.30714|.	1.52;1.52|.	4.17|4.17	2.25|2.25	0.28309|0.28309	.|.	0.630018|.	0.15606|.	N|.	0.253672|.	T|.	0.36303|.	0.0962|.	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.22683|.	0.073;0.073|.	B;B|.	0.15870|.	0.014;0.014|.	T|.	0.22312|.	-1.0220|.	10|.	0.08837|.	T|.	0.75|.	-1.1886|-1.1886	10.0246|10.0246	0.42063|0.42063	0.0:0.8047:0.0:0.1953|0.0:0.8047:0.0:0.1953	.|.	348;347|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	T|X	348;347|141	ENSP00000270172:A348T;ENSP00000412862:A347T|.	ENSP00000270172:A348T|.	A|W	-|-	1|3	0|0	DNMT3L|DNMT3L	44490830|44490830	0.054000|0.054000	0.20591|0.20591	0.007000|0.007000	0.13788|0.13788	0.172000|0.172000	0.22775|0.22775	0.008000|0.008000	0.13197|0.13197	0.018000|0.018000	0.15052|0.15052	-0.797000|-0.797000	0.03246|0.03246	GCC|TGG		0.567	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		45	207	0	0	0	1	0	45	207					T	45666402	C	T	45666402	3	4	79	1	0	0	0	0	1	0	0	0	4694	739	26	2	125	2	DNMT3L	21	45666402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9340	45666402	2463493	20674	30991											
DNMT3L	29947	broad.mit.edu	37	chr21	45678505	45678505	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcacaggtagcacacccaGttgctcatggcgtgcacctt	11	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45678505G>T	ENST00000418993.1	-	6	900	c.417C>A	c.(415-417)aaC>aaA	p.N139K	DNMT3L_ENST00000270172.3_Missense_Mutation_p.N139K	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	139	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCACACCCAGTTGCTCATGG	0.637																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(415-417)aaC>aaA		DNA (cytosine-5-)-methyltransferase 3-like							38	39	39					21																	45678505		2200	4300	6500	SO:0001583	missense	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45678505G>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.417C>A	21.37:g.45678505G>T	ENSP00000412862:p.Asn139Lys					DNMT3L_ENST00000418993.1_Missense_Mutation_p.N139K	p.N139K	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	6	900	-			139			ADD.		E9PB42|Q9BUJ4	Missense_Mutation	SNP	ENST00000418993.1	37	c.417C>A	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974125	0.34848	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76060	-0.99;-0.99;-0.99	3.61	0.579	0.17397	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.541236	0.19810	N	0.105545	T	0.58524	0.2128	L	0.31207	0.915	0.23271	N	0.998008	P;P	0.49961	0.93;0.93	P;P	0.45856	0.495;0.495	T	0.50792	-0.8786	10	0.34782	T	0.22	-19.8175	3.1666	0.06538	0.2642:0.2316:0.5042:0.0	.	139;139	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	K	139;139;124	ENSP00000270172:N139K;ENSP00000412862:N139K;ENSP00000400242:N124K	ENSP00000270172:N139K	N	-	3	2	DNMT3L	44502933	0.757000	0.28394	0.991000	0.47740	0.982000	0.71751	-0.026000	0.12392	0.286000	0.22352	0.561000	0.74099	AAC		0.637	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		10	125	1	0	2.17888e-05	1	2.22852e-05	10	125					T	45678505	G	T	45678505	3	4	79	1	0	0	0	0	1	0	0	0	4694	1020	36	3	774	3	DNMT3L	21	45678505	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12103	45678505	2451390	20675	30992											
AIRE	326	broad.mit.edu	37	chr21	45713016	45713016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagggctggactcctcGgccctgcaccccctactgtg	11	18	0	0	rs373985995		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713016G>A	ENST00000291582.5	+	10	1363	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	AIRE_ENST00000355347.4_Silent_p.S205S|AIRE_ENST00000329347.4_Missense_Mutation_p.R178Q	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	412					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)		TGGACTCCTCGGCCCTGCACC	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				G|||	1	0.000199681	0.0008	0.0	5008	,	,		10674	0.0		0.0	False		,,,				2504	0.0					ENST00000329347.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(532-534)cGg>cAg		autoimmune regulator		G	,	1,4345		0,1,2172	19	21	20		1236,645	-10.1	0	21		20	0,8572		0,0,4286	no	coding-synonymous,coding-synonymous	AIRE	NM_000383.2,NM_000658.2	,	0,1,6458	AA,AG,GG		0.0,0.023,0.0077	,	412/546,215/349	45713016	1,12917	2173	4286	6459	SO:0001819	synonymous_variant	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45713016G>A	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.1236G>A	21.37:g.45713016G>A						AIRE_ENST00000291582.5_Silent_p.S412S|AIRE_ENST00000355347.4_Silent_p.S205S	p.R178Q			O43918	AIRE_HUMAN		Colorectal(79;0.0806)	5	533	+			144					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.533G>A	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511408	0.27036	2.3E-4	0.0	ENSG00000160224	ENST00000329347	D	0.96427	-4.01	5.05	-10.1	0.00402	.	.	.	.	.	D	0.88753	0.6522	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.77702	-0.2489	6	0.28530	T	0.3	-22.3082	1.379	0.02226	0.2509:0.1516:0.1255:0.472	.	.	.	.	Q	178	ENSP00000331055:R178Q	ENSP00000331055:R178Q	R	+	2	0	AIRE	44537444	0.000000	0.05858	0.018000	0.16275	0.150000	0.21749	-4.067000	0.00302	-3.437000	0.00163	0.542000	0.68232	CGG		0.682	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			9	45	0	0	0	1	0	9	45					A	45713016	G	A	45713016	2	1	79	1	0	0	0	0	0	0	0	1	437	1103	39	1		1	AIRE	21	45713016	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34511	45713016	2416879	20676	30993											
AIRE	326	broad.mit.edu	37	chr21	45713671	45713671	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgcgctgttgcctcccacaGaacctggctcctggtgcgcg	12	17	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	ENST00000291582.5	+	11	1405		c.e11-1		AIRE_ENST00000355347.4_Splice_Site|AIRE_ENST00000329347.4_Splice_Site	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)		GCCTCCCACAGAACCTGGCTC	0.692									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000291582.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.e11-1		autoimmune regulator							46	43	44					21																	45713671		2199	4295	6494	SO:0001630	splice_region_variant	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45713671G>T	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.1279-1G>T	21.37:g.45713671G>T						AIRE_ENST00000329347.4_Splice_Site|AIRE_ENST00000355347.4_Splice_Site		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	11	1405	+								B2RP50|O43922|O43932|O75745	Splice_Site	SNP	ENST00000291582.5	37		CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115223	0.20795	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	.	.	.	3.41	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.45194	D	0.998207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2727	0.26266	0.1343:0.0:0.8657:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIRE	44538099	0.440000	0.25618	0.153000	0.22517	0.004000	0.04260	2.223000	0.42936	0.737000	0.32582	-0.350000	0.07774	.		0.692	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2		Intron	29	234	1	0	1.99505e-19	1	2.22584e-19	29	234					T	45713671	G	T	45713671	5	4	79	1	0	0	0	0	0	0	1	0	437	956	33	3	1608	3	AIRE	21	45713671	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	655	45713671	2416224	20677	30994											
PFKL	5211	broad.mit.edu	37	chr21	45744399	45744399	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccgcatcaaacagtctgCctcggggaccaagcgccgtg	12	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45744399C>T	ENST00000349048.4	+	17	1731	c.1676C>T	c.(1675-1677)gCc>gTc	p.A559V	PFKL_ENST00000403390.1_Missense_Mutation_p.A606V	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	559	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AAACAGTCTGCCTCGGGGACC	0.672																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1816-1818)gCc>gTc		phosphofructokinase, liver							67	63	65					21																	45744399		2202	4300	6502	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45744399C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1676C>T	21.37:g.45744399C>T	ENSP00000269848:p.Ala559Val					PFKL_ENST00000349048.4_Missense_Mutation_p.A559V	p.A606V			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	18	1817	+			559					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.1817C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358152	0.82243	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.84298	-1.83;-1.83	4.1	4.1	0.47936	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97112	0.9805	10	0.87932	D	0	-34.7073	15.126	0.72483	0.0:1.0:0.0:0.0	.	559;606	P17858;P17858-2	K6PL_HUMAN;.	V	559;352;606	ENSP00000269848:A559V;ENSP00000384038:A606V	ENSP00000269848:A559V	A	+	2	0	PFKL	44568827	1.000000	0.71417	0.928000	0.36995	0.351000	0.29236	7.399000	0.79935	1.852000	0.53769	0.467000	0.42956	GCC		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			29	252	0	0	0	1	0	29	252					T	45744399	C	T	45744399	3	4	79	1	0	0	0	0	1	0	0	0	11806	739	26	2	1742	2	PFKL	21	45744399	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30728	45744399	2385496	20678	30995											
TRPM2	7226	broad.mit.edu	37	chr21	45789167	45789167	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaaggcgagctcatcAccatcggagtcgccacctgg	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45789167A>G	ENST00000397928.1	+	5	1157	c.712A>G	c.(712-714)Acc>Gcc	p.T238A	TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A|TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	238					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGAGCTCATCACCATCGGAGT	0.667																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(712-714)Acc>Gcc		transient receptor potential cation channel, subfamily M, member 2							55	47	50					21																	45789167		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45789167A>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.712A>G	21.37:g.45789167A>G	ENSP00000381023:p.Thr238Ala					TRPM2_ENST00000300482.5_Missense_Mutation_p.T238A|TRPM2_ENST00000397932.2_Missense_Mutation_p.T238A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.T238A	p.T238A	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			5	1157	+			238					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.712A>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	A	4.867	0.161075	0.09287	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.02395	4.31;4.31;4.31;4.31	3.51	3.51	0.40186	.	0.146541	0.46758	U	0.000277	T	0.01320	0.0043	N	0.05608	-0.01	0.45806	D	0.998687	P;P	0.40360	0.714;0.512	B;B	0.31946	0.138;0.113	T	0.53760	-0.8393	10	0.02654	T	1	-38.6306	12.4804	0.55839	1.0:0.0:0.0:0.0	.	238;238	E9PGK7;O94759	.;TRPM2_HUMAN	A	238	ENSP00000300482:T238A;ENSP00000381023:T238A;ENSP00000300481:T238A;ENSP00000381026:T238A	ENSP00000300481:T238A	T	+	1	0	TRPM2	44613595	1.000000	0.71417	0.975000	0.42487	0.894000	0.52154	2.993000	0.49425	1.588000	0.49971	0.383000	0.25322	ACC		0.667	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		28	199	0	0	0	1	0	28	199					G	45789167	A	G	45789167	3	3	79	1	0	0	0	0	1	0	0	0	16639	159	6	4	730	4	TRPM2	21	45789167	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	44768	45789167	2340728	20679	30996											
TRPM2	7226	broad.mit.edu	37	chr21	45837893	45837893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgaggagtaccacggccGccccgccgcgccgcccccct	12	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45837893G>A	ENST00000397928.1	+	21	3675	c.3230G>A	c.(3229-3231)cGc>cAc	p.R1077H	TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1077					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCAcggccgccccgccgcg	0.617																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3229-3231)cGc>cAc		transient receptor potential cation channel, subfamily M, member 2							54	53	53					21																	45837893		2203	4299	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837893G>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3230G>A	21.37:g.45837893G>A	ENSP00000381023:p.Arg1077His					TRPM2_ENST00000300482.5_Missense_Mutation_p.R1077H|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1077H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1057H	p.R1077H	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			21	3675	+			1077					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3230G>A	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595539	0.66219	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.54	4.54	0.55810	.	0.140827	0.48286	D	0.000181	T	0.62270	0.2414	M	0.87456	2.885	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	0.71547	-0.4560	10	0.87932	D	0	-34.5594	17.6937	0.88276	0.0:0.0:1.0:0.0	.	1077;863;1077	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1077;1077;1057;1077	ENSP00000300482:R1077H;ENSP00000381023:R1077H;ENSP00000300481:R1057H;ENSP00000381026:R1077H	ENSP00000300481:R1057H	R	+	2	0	TRPM2	44662321	1.000000	0.71417	0.315000	0.25238	0.048000	0.14542	7.492000	0.81482	2.253000	0.74438	0.455000	0.32223	CGC		0.617	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		96	362	0	0	0	1	0	96	362					A	45837893	G	A	45837893	3	1	79	1	0	0	0	0	1	0	0	0	16639	1087	38	1	3312	1	TRPM2	21	45837893	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48726	45837893	2292002	20680	30997											
C21orf29	54084	broad.mit.edu	37	chr21	45949758	45949758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtgggatggacagcaccGccagcggggcgttcctgctg	16	14	0	0	rs376643533		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45949758G>A	ENST00000323084.4	-	5	778	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A170V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	238	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.A238V(1)		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						GGACAGCACCGCCAGCGGGGC	0.642																																						ENST00000323084.4																			1	Substitution - Missense(1)	p.A238V(1)	central_nervous_system(1)	breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(712-714)gCg>gTg		thrombospondin-type laminin G domain and EAR repeats		G	VAL/ALA	0,4406		0,0,2203	43	49	47		713	3.9	0	21		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSPEAR	NM_144991.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	238/670	45949758	1,13005	2203	4300	6503	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45949758G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.713C>T	21.37:g.45949758G>A	ENSP00000321987:p.Ala238Val					TSPEAR_ENST00000397916.1_Missense_Mutation_p.A170V	p.A238V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			5	778	-			238						Missense_Mutation	SNP	ENST00000323084.4	37	c.713C>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202198	0.38905	0.0	1.16E-4	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.46819	0.86;0.86	4.83	3.94	0.45596	.	0.146393	0.45361	D	0.000377	T	0.40694	0.1127	L	0.55103	1.725	0.47123	D	0.999327	B	0.24258	0.1	B	0.14023	0.01	T	0.19877	-1.0292	10	0.19147	T	0.46	-8.2929	13.236	0.59969	0.079:0.0:0.921:0.0	.	238	Q8WU66	TSEAR_HUMAN	V	238;170;238	ENSP00000321987:A238V;ENSP00000381012:A170V	ENSP00000321987:A238V	A	-	2	0	TSPEAR	44774186	0.598000	0.26882	0.034000	0.17996	0.601000	0.36947	3.441000	0.52893	0.991000	0.38814	0.491000	0.48974	GCG		0.642	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		52	219	0	0	0	1	0	52	219					A	45949758	G	A	45949758	3	1	79	1	0	0	0	0	1	0	0	0	2131	1087	38	1	1328	1	C21orf29	21	45949758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111865	45949758	2180137	20681	30998											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959281	45959281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaggaggcaggggcacaGcaggaggagacaggcataca	18	8	0	1	rs371224828	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45959281G>A	ENST00000400375.1	-	1	797	c.753C>T	c.(751-753)tgC>tgT	p.C251C	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	251	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGGGGCACAGCAGGAGGAGA	0.731													G|||	2	0.000399361	0.0	0.0	5008	,	,		14916	0.0		0.002	False		,,,				2504	0.0					ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(751-753)tgC>tgT		keratin associated protein 10-1		G	,	0,4406		0,0,2203	44	52	49		,753	2.3	0.2	21		49	4,8596	3.7+/-12.6	0,4,4296	no	intron,coding-synonymous	TSPEAR,KRTAP10-1	NM_144991.2,NM_198691.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	,251/283	45959281	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959281G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"Keratin associated proteins"	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.753C>T	21.37:g.45959281G>A						TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.C251C	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	797	-			251			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.753C>T	CCDS42954.1																																																																																				0.731	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			10	336	0	0	0	1	0	10	336					A	45959281	G	A	45959281	2	1	79	1	0	0	0	0	0	0	0	1	8535	963	34	2		2	KRTAP10-1	21	45959281	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9523	45959281	2170614	20682	30999											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45977936	45977936	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgggacctgcccgtcaGcagctggacttctggcctga	13	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45977936G>T	ENST00000391620.1	-	1	707	c.663C>A	c.(661-663)tgC>tgA	p.C221*	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	221						keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CTGCCCGTCAGCAGCTGGACT	0.652																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(661-663)tgC>tgA		keratin associated protein 10-3							28	31	30					21																	45977936		2156	4261	6417	SO:0001587	stop_gained	386682					keratin filament		g.chr21:45977936G>T	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.663C>A	21.37:g.45977936G>T	ENSP00000375478:p.Cys221*					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.C221*	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	707	-			221					A3KN67|Q70LJ4	Nonsense_Mutation	SNP	ENST00000391620.1	37	c.663C>A	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	16.89	3.248000	0.59103	.	.	ENSG00000212935	ENST00000391620	.	.	.	3.61	2.69	0.31865	.	.	.	.	.	.	.	.	.	.	.	0.38741	D	0.953885	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4773	0.38880	0.1199:0.0:0.8801:0.0	.	.	.	.	X	221	.	ENSP00000375478:C221X	C	-	3	2	KRTAP10-3	44802364	0.998000	0.40836	0.982000	0.44146	0.388000	0.30384	1.564000	0.36375	1.714000	0.51371	0.462000	0.41574	TGC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			27	215	1	0	1.77063e-15	1	1.9355e-15	27	215					T	45977936	G	T	45977936	4	4	79	1	0	0	0	0	0	1	0	0	8540	963	34	3	6	3	KRTAP10-3	21	45977936	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18655	45977936	2151959	20683	31000											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993726	45993726	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgactcctggcaggtggacGactgcccagagagctgctgc	14	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45993726G>A	ENST00000400374.3	+	1	121	c.91G>A	c.(91-93)Gac>Aac	p.D31N	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	31						keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCAGGTGGACGACTGCCCAGA	0.682																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(91-93)Gac>Aac		keratin associated protein 10-4							61	66	64					21																	45993726		2080	4194	6274	SO:0001583	missense	386672					keratin filament		g.chr21:45993726G>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"Keratin associated proteins"	20521	protein-coding gene	gene with protein product			"keratin associated protein 18-4"	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.91G>A	21.37:g.45993726G>A	ENSP00000383225:p.Asp31Asn					TSPEAR_ENST00000323084.4_Intron	p.D31N	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	121	+			31					Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.91G>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	N	10.33	1.319150	0.23994	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.14893	2.47	4.69	0.487	0.16842	.	.	.	.	.	T	0.11239	0.0274	L	0.54323	1.7	0.22468	N	0.999077	P	0.42827	0.791	B	0.36666	0.23	T	0.20140	-1.0284	9	0.11182	T	0.66	.	3.5654	0.07897	0.2943:0.0:0.5321:0.1736	.	31	P60372	KR104_HUMAN	N	31;20	ENSP00000383225:D31N	ENSP00000333987:D20N	D	+	1	0	KRTAP10-4	44818154	0.723000	0.28027	0.976000	0.42696	0.133000	0.20885	0.164000	0.16542	0.164000	0.19529	-0.336000	0.08194	GAC		0.682	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		72	282	0	0	0	1	0	72	282					A	45993726	G	A	45993726	3	1	79	1	0	0	0	0	1	0	0	0	8541	1058	37	1	93	1	KRTAP10-4	21	45993726	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15790	45993726	2136169	20684	31001											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032698	46032698	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtgtgcctgtcccctcCtgttgtgtccctgcctcctc	9	17	0	0	rs149614965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46032698C>A	ENST00000334662.2	+	1	703	c.681C>A	c.(679-681)tcC>tcA	p.S227S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	227	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ctgtcccctcctgttgtgtcc	0.711																																						ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(679-681)tcC>tcA		keratin associated protein 10-8							72	80	77					21																	46032698		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032698C>A	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.681C>A	21.37:g.46032698C>A						TSPEAR_ENST00000323084.4_Intron	p.S227S	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	703	+			227			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.681C>A	CCDS13713.1																																																																																				0.711	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		54	441	1	0	1.07234e-20	1	1.20343e-20	54	441					A	46032698	C	A	46032698	2	1	79	1	0	0	0	0	0	0	0	1	8545	668	24	3		3	KRTAP10-8	21	46032698	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38972	46032698	2097197	20685	31002											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086509	46086509	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggaggactggcaggAgggggctgcacacacaatgg	18	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46086509A>T	ENST00000360770.3	-	1	335	c.295T>A	c.(295-297)Tcc>Acc	p.S99T	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	99	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642																																						ENST00000360770.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(295-297)Tcc>Acc		keratin associated protein 12-2							59	71	67					21																	46086509		2175	4258	6433	SO:0001583	missense	353323					keratin filament		g.chr21:46086509A>T	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"Keratin associated proteins"	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.295T>A	21.37:g.46086509A>T	ENSP00000354001:p.Ser99Thr					TSPEAR_ENST00000323084.4_Intron	p.S99T	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN			1	335	-			99			23 X 5 AA approximate repeats.		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	c.295T>A	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	a	5.296	0.239909	0.10023	.	.	ENSG00000221864	ENST00000360770;ENST00000539483	T	0.03468	3.92	3.47	-0.556	0.11803	.	.	.	.	.	T	0.09291	0.0229	M	0.84082	2.675	0.09310	N	1	P	0.51791	0.948	P	0.51918	0.684	T	0.15464	-1.0436	9	0.51188	T	0.08	.	3.0355	0.06121	0.4538:0.0:0.3497:0.1965	.	99	P59991	KR122_HUMAN	T	99;49	ENSP00000354001:S99T	ENSP00000354001:S99T	S	-	1	0	KRTAP12-2	44910937	0.976000	0.34144	0.010000	0.14722	0.388000	0.30384	0.038000	0.13862	0.009000	0.14813	0.379000	0.24179	TCC		0.642	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		33	300	0	0	0	1	0	33	300					T	46086509	A	T	46086509	3	4	79	1	0	0	0	0	1	0	0	0	8549	304	11	5	149	5	KRTAP12-2	21	46086509	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	53811	46086509	2043386	20686	31003											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117425	46117425	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctccccctgccagcaggcCtgctgcgtgcccgtctgctg	11	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117425C>A	ENST00000400365.3	+	1	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	103	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A103A(1)		large_intestine(1)|lung(8)	9						GCCAGCAGGCCTGCTGCGTGC	0.647																																						ENST00000400365.3																			1	Substitution - coding silent(1)	p.A103A(1)	lung(1)	large_intestine(1)|lung(8)	9						c.(307-309)gcC>gcA		keratin associated protein 10-12							76	81	79					21																	46117425		2203	4297	6500	SO:0001819	synonymous_variant	386685					keratin filament		g.chr21:46117425C>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.309C>A	21.37:g.46117425C>A						TSPEAR_ENST00000323084.4_Intron	p.A103A	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	339	+			103			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Silent	SNP	ENST00000400365.3	37	c.309C>A	CCDS42967.1																																																																																				0.647	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		115	829	1	0	8.74965e-44	1	1.06917e-43	115	829					A	46117425	C	A	46117425	2	1	79	1	0	0	0	0	0	0	0	1	8538	668	24	3		3	KRTAP10-12	21	46117425	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30916	46117425	2012470	20687	31004											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117739	46117739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcagacccgcccgccGcgtgcccgtcccctcctgct	11	20	0	1	rs576036099		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117739G>A	ENST00000400365.3	+	1	653	c.623G>A	c.(622-624)cGc>cAc	p.R208H	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	208	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CCCGCCCGCCGCGTGCCCGTC	0.711																																						ENST00000400365.3																			0				large_intestine(1)|lung(8)	9						c.(622-624)cGc>cAc		keratin associated protein 10-12							53	68	63					21																	46117739		2200	4294	6494	SO:0001583	missense	386685					keratin filament		g.chr21:46117739G>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.623G>A	21.37:g.46117739G>A	ENSP00000383216:p.Arg208His					TSPEAR_ENST00000323084.4_Intron	p.R208H	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	653	+			208			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	37	c.623G>A	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	g	8.677	0.904269	0.17760	.	.	ENSG00000189169	ENST00000400365	T	0.00630	6.1	2.6	2.6	0.31112	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.22500	N	0.999047	B	0.20550	0.046	B	0.04013	0.001	T	0.48068	-0.9067	9	0.59425	D	0.04	.	5.7084	0.17921	0.1658:0.0:0.8342:0.0	.	208	P60413	KR10C_HUMAN	H	208	ENSP00000383216:R208H	ENSP00000383216:R208H	R	+	2	0	KRTAP10-12	44942167	0.133000	0.22466	0.939000	0.37840	0.006000	0.05464	0.289000	0.18957	1.155000	0.42497	0.298000	0.19748	CGC		0.711	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		88	762	0	0	0	1	0	88	762					A	46117739	G	A	46117739	3	1	79	1	0	0	0	0	1	0	0	0	8538	1087	38	1	625	1	KRTAP10-12	21	46117739	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	314	46117739	2012156	20688	31005											
ITGB2	3689	broad.mit.edu	37	chr21	46320235	46320235	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcctggggtggggacttacGaattcgttgctcctcttgta	13	9	1	0	rs150327269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	ENST00000397850.2	-	8	1349	c.897C>T	c.(895-897)ttC>ttT	p.F299F	ITGB2_ENST00000302347.5_Splice_Site_p.F299F|ITGB2_ENST00000397852.1_Splice_Site_p.F299F|ITGB2_ENST00000397857.1_Splice_Site_p.F299F|ITGB2_ENST00000397854.3_Splice_Site_p.F242F|ITGB2_ENST00000355153.4_Splice_Site_p.F299F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	299	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)	GGGGACTTACGAATTCGTTGC	0.637																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.e8+1		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)	G	,	1,4405	2.1+/-5.4	0,1,2202	120	94	103		897,897	-7	0.4	21	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	ITGB2	NM_000211.3,NM_001127491.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	299/770,299/770	46320235	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320235G>A	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.897+1C>T	21.37:g.46320235G>A						ITGB2_ENST00000397854.3_Splice_Site_p.F242_splice|ITGB2_ENST00000397852.1_Splice_Site_p.F299_splice|ITGB2_ENST00000302347.5_Splice_Site_p.F299_splice|ITGB2_ENST00000397857.1_Splice_Site_p.F299_splice|ITGB2_ENST00000355153.4_Splice_Site_p.F299_splice	p.F299_splice			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1349	-			299			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	c.897_splice	CCDS13716.1																																																																																				0.637	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Silent	31	276	0	0	0	1	0	31	276					A	46320235	G	A	46320235	5	1	79	1	0	0	0	0	0	0	1	0	7924	1072	37	1	1452	1	ITGB2	21	46320235	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	202496	46320235	1809660	20689	31006											
ITGB2	3689	broad.mit.edu	37	chr21	46320304	46320304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgggggtcaggatggcGcccagcttcccgtcgcccgc	15	15	1	0	rs147150938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320304G>A	ENST00000397850.2	-	8	1280	c.828C>T	c.(826-828)ggC>ggT	p.G276G	ITGB2_ENST00000302347.5_Silent_p.G276G|ITGB2_ENST00000397852.1_Silent_p.G276G|ITGB2_ENST00000397857.1_Silent_p.G276G|ITGB2_ENST00000397854.3_Silent_p.G219G|ITGB2_ENST00000355153.4_Silent_p.G276G			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	276	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)	TCAGGATGGCGCCCAGCTTCC	0.627																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(826-828)ggC>ggT		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)	G	,	0,4406		0,0,2203	103	87	92		828,828	-9.8	0	21	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ITGB2	NM_000211.3,NM_001127491.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	276/770,276/770	46320304	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320304G>A	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.828C>T	21.37:g.46320304G>A						ITGB2_ENST00000397854.3_Silent_p.G219G|ITGB2_ENST00000397852.1_Silent_p.G276G|ITGB2_ENST00000302347.5_Silent_p.G276G|ITGB2_ENST00000397857.1_Silent_p.G276G|ITGB2_ENST00000355153.4_Silent_p.G276G	p.G276G			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1280	-			276			VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.828C>T	CCDS13716.1																																																																																				0.627	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		9	355	0	0	0	1	0	9	355					A	46320304	G	A	46320304	2	1	79	1	0	0	0	0	0	0	0	1	7924	1074	38	1		1	ITGB2	21	46320304	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69	46320304	1809591	20690	31007											
ADARB1	104	broad.mit.edu	37	chr21	46600335	46600335	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcacgctcgcagaaaagtgCtggctggagtcgtcatgaca	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46600335C>A	ENST00000360697.3	+	3	1069	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000539173.1_Missense_Mutation_p.L352M|ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	352					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGAAAAGTGCTGGCTGGAGT	0.493																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1054-1056)Ctg>Atg		adenosine deaminase, RNA-specific, B1							127	82	97					21																	46600335		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46600335C>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"RED1 homolog (rat)"	601218	"adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1054C>A	21.37:g.46600335C>A	ENSP00000353920:p.Leu352Met					ADARB1_ENST00000348831.4_Missense_Mutation_p.L352M|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Missense_Mutation_p.L352M|ADARB1_ENST00000360697.3_Missense_Mutation_p.L352M	p.L352M	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	5	1489	+			352					A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.1054C>A	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028386	0.75390	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	T;T;T;T	0.49432	0.79;0.78;0.8;0.79	5.47	5.47	0.80525	Adenosine deaminase/editase (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.91635	0.999;0.995;0.999;0.984	T	0.75780	-0.3197	10	0.87932	D	0	-31.6681	17.2115	0.86931	0.0:1.0:0.0:0.0	.	352;352;380;352	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	M	352	ENSP00000441897:L352M;ENSP00000374513:L352M;ENSP00000015877:L352M;ENSP00000353920:L352M	ENSP00000015877:L352M	L	+	1	2	ADARB1	45424763	1.000000	0.71417	0.616000	0.29078	0.696000	0.40369	4.579000	0.60936	2.748000	0.94277	0.655000	0.94253	CTG		0.493	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		7	102	1	0	0.0381472	1	0.0382505	7	102					A	46600335	C	A	46600335	3	1	79	1	0	0	0	0	1	0	0	0	282	796	28	3	1064	3	ADARB1	21	46600335	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	280031	46600335	1529560	20691	31008											
POFUT2	23275	broad.mit.edu	37	chr21	46703411	46703411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtaactttgcaggacGtaaacctggtcaataaaggg	11	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46703411G>A	ENST00000349485.5	-	3	440	c.414C>T	c.(412-414)taC>taT	p.Y138Y	POFUT2_ENST00000331343.7_Silent_p.Y138Y|POFUT2_ENST00000471540.1_5'Flank	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	138					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTTGCAGGACGTAAACCTGGT	0.532																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(412-414)taC>taT		protein O-fucosyltransferase 2							236	210	219					21																	46703411		2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46703411G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.414C>T	21.37:g.46703411G>A						POFUT2_ENST00000349485.5_Silent_p.Y138Y	p.Y138Y	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	3	440	-			138					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.414C>T	CCDS13719.1	.	.	.	.	.	.	.	.	.	.	G	1.333	-0.596142	0.03771	.	.	ENSG00000186866	ENST00000451615	.	.	.	4.52	-1.3	0.09259	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48305	-0.9047	4	.	.	.	-32.6851	8.3022	0.32021	0.6096:0.0:0.3904:0.0	.	.	.	.	C	16	.	.	R	-	1	0	POFUT2	45527839	0.221000	0.23642	0.967000	0.41034	0.073000	0.16967	-0.450000	0.06803	-0.100000	0.12241	0.650000	0.86243	CGT		0.532	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		197	749	0	0	0	1	0	197	749					A	46703411	G	A	46703411	2	1	79	1	0	0	0	0	0	0	0	1	12226	1140	40	1		1	POFUT2	21	46703411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	103076	46703411	1426484	20692	31009											
COL18A1	80781	broad.mit.edu	37	chr21	46893834	46893834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgctgagctgaaggtgcGcagggacccccaggtgagcc	16	12	0	3	rs201095161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46893834G>A	ENST00000359759.4	+	3	1943	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H|COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	641	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)		CTGAAGGTGCGCAGGGACCCC	0.632																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1921-1923)cGc>cAc		collagen, type XVIII, alpha 1		G	HIS/ARG,HIS/ARG	0,4104		0,0,2052	32	36	35		1217,677	2.8	0.1	21		35	1,8363		0,1,4181	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	29,29	0,1,6233	AA,AG,GG		0.012,0.0,0.0080	probably-damaging,probably-damaging	406/1520,226/1340	46893834	1,12467	2052	4182	6234	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46893834G>A		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.1922G>A	21.37:g.46893834G>A	ENSP00000352798:p.Arg641His					COL18A1_ENST00000355480.5_Missense_Mutation_p.R406H|COL18A1_ENST00000400337.2_Missense_Mutation_p.R226H	p.R641H			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	3	1943	+			641			TSP N-terminal.		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.1922G>A		.	.	.	.	.	.	.	.	.	.	G	7.098	0.573551	0.13623	0.0	1.2E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.02158	4.42;4.42;4.42	2.81	2.81	0.32909	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.405345	0.23598	N	0.046475	T	0.05823	0.0152	L	0.28556	0.865	0.33300	D	0.564707	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.986;0.976;0.953	T	0.26916	-1.0089	10	0.56958	D	0.05	.	11.3718	0.49704	0.0:0.0:1.0:0.0	.	641;406;226	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	H	226;226;406;641;641	ENSP00000383191:R226H;ENSP00000347665:R406H;ENSP00000352798:R641H	ENSP00000347665:R406H	R	+	2	0	COL18A1	45718262	0.994000	0.37717	0.061000	0.19648	0.073000	0.16967	2.871000	0.48459	1.889000	0.54706	0.186000	0.17326	CGC		0.632	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			16	50	0	0	0	1	0	16	50					A	46893834	G	A	46893834	3	1	79	1	0	0	0	0	1	0	0	0	3684	1087	38	1	2046	1	COL18A1	21	46893834	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	190423	46893834	1236061	20693	31010											
COL18A1	80781	broad.mit.edu	37	chr21	46908341	46908341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgacagggacctcccGgcctgccgggacttaaggtc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46908341G>A	ENST00000359759.4	+	17	3172	c.3151G>A	c.(3151-3153)Ggc>Agc	p.G1051S	COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S|COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1051	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGACCTCCCGGCCTGCCGGG	0.597																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3151-3153)Ggc>Agc		collagen, type XVIII, alpha 1							90	101	97					21																	46908341		1997	4142	6139	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46908341G>A		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.3151G>A	21.37:g.46908341G>A	ENSP00000352798:p.Gly1051Ser					COL18A1_ENST00000355480.5_Missense_Mutation_p.G816S|COL18A1_ENST00000400337.2_Missense_Mutation_p.G636S	p.G1051S			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	17	3172	+			1051			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3151G>A		.	.	.	.	.	.	.	.	.	.	G	16.68	3.190930	0.58017	.	.	ENSG00000182871	ENST00000400337;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.99329	-5.75;-5.75;-5.75	3.39	2.48	0.30137	.	0.132732	0.49916	D	0.000132	D	0.99513	0.9826	H	0.98256	4.185	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.67725	0.953;0.921;0.796	D	0.97195	0.9860	10	0.87932	D	0	.	7.9781	0.30166	0.0:0.0:0.7558:0.2442	.	1051;816;636	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	S	636;816;1051;1051	ENSP00000383191:G636S;ENSP00000347665:G816S;ENSP00000352798:G1051S	ENSP00000347665:G816S	G	+	1	0	COL18A1	45732769	0.903000	0.30736	0.009000	0.14445	0.097000	0.18754	3.660000	0.54496	0.763000	0.33175	0.650000	0.86243	GGC		0.597	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			46	455	0	0	0	1	0	46	455					A	46908341	G	A	46908341	3	1	79	1	0	0	0	0	1	0	0	0	3684	1116	39	1	3331	1	COL18A1	21	46908341	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14507	46908341	1221554	20694	31011											
COL18A1	80781	broad.mit.edu	37	chr21	46911190	46911190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcctccctggcccccccGgacccccgggacctgtggtc	13	21	0	0	rs375408962		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46911190G>A	ENST00000359759.4	+	21	3385	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R|COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1122	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCCCCCCCGGACCCCCGGG	0.687																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3364-3366)Gga>Aga		collagen, type XVIII, alpha 1		G	ARG/GLY,ARG/GLY	0,3834		0,0,1917	18	24	22		2659,2119	3.8	1	21		22	1,8187		0,1,4093	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	125,125	0,1,6010	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging,probably-damaging	887/1520,707/1340	46911190	1,12021	1917	4094	6011	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46911190G>A		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.3364G>A	21.37:g.46911190G>A	ENSP00000352798:p.Gly1122Arg					COL18A1_ENST00000355480.5_Missense_Mutation_p.G887R|COL18A1_ENST00000400337.2_Missense_Mutation_p.G707R	p.G1122R			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	21	3385	+			1122			Triple-helical region 4 (COL4).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.3364G>A		.	.	.	.	.	.	.	.	.	.	G	17.78	3.473025	0.63737	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000001	D	0.99411	0.9792	H	0.97635	4.045	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98124	1.0427	10	0.72032	D	0.01	.	13.6811	0.62487	0.0:0.0:1.0:0.0	.	1122;887;707	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	R	707;707;887;1122;1122;54	ENSP00000383191:G707R;ENSP00000347665:G887R;ENSP00000352798:G1122R;ENSP00000339118:G54R	ENSP00000339118:G54R	G	+	1	0	COL18A1	45735618	0.953000	0.32496	0.963000	0.40424	0.253000	0.25986	1.790000	0.38734	2.159000	0.67721	0.561000	0.74099	GGA		0.687	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			30	142	0	0	0	1	0	30	142					A	46911190	G	A	46911190	3	1	79	1	0	0	0	0	1	0	0	0	3684	1117	39	1	3560	1	COL18A1	21	46911190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2849	46911190	1218705	20695	31012											
SLC19A1	6573	broad.mit.edu	37	chr21	46950795	46950795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaaggaagaccagccccGcctgcgtggccgtgacgccc	13	17	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46950795G>A	ENST00000311124.4	-	4	1192	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	347					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)	GACCAGCCCCGCCTGCGTGGC	0.687																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(1039-1041)gCg>gTg		solute carrier family 19 (folate transporter), member 1							16	18	17					21																	46950795		2180	4277	6457	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46950795G>A	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.1040C>T	21.37:g.46950795G>A	ENSP00000308895:p.Ala347Val					SLC19A1_ENST00000485649.2_Missense_Mutation_p.A307V|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A347V|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A347V	p.A347V	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	4	1192	-			347					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.1040C>T	CCDS13725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.85|18.85	3.711962|3.711962	0.68730|0.68730	.|.	.|.	ENSG00000173638|ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649|ENST00000417954	D;D;D|.	0.89552|.	-2.53;-2.53;-2.53|.	3.76|3.76	3.76|3.76	0.43208|0.43208	Major facilitator superfamily domain, general substrate transporter (1);|.	0.113799|.	0.64402|.	D|.	0.000016|.	D|D	0.83552|0.83552	0.5279|0.5279	M|M	0.91717|0.91717	3.235|3.235	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.999;1.0;0.999|.	D;D;D;D|.	0.66351|.	0.922;0.922;0.943;0.922|.	D|D	0.87984|0.87984	0.2745|0.2745	10|5	0.87932|.	D|.	0|.	-24.7675|-24.7675	15.0129|15.0129	0.71562|0.71562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	307;369;347;347|.	B7Z8C3;D3DSM6;E9PFY4;P41440|.	.;.;.;S19A1_HUMAN|.	V|W	94;347;347;307|82	ENSP00000308895:A347V;ENSP00000369347:A347V;ENSP00000441772:A307V|.	ENSP00000308895:A347V|.	A|R	-|-	2|1	0|2	SLC19A1|SLC19A1	45775223|45775223	1.000000|1.000000	0.71417|0.71417	0.860000|0.860000	0.33809|0.33809	0.116000|0.116000	0.19942|0.19942	8.683000|8.683000	0.91236|0.91236	2.034000|2.034000	0.60081|0.60081	0.289000|0.289000	0.19496|0.19496	GCG|CGG		0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			20	61	0	0	0	1	0	20	61					A	46950795	G	A	46950795	3	1	79	1	0	0	0	0	1	0	0	0	14478	1087	38	1	747	1	SLC19A1	21	46950795	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39605	46950795	1179100	20696	31013											
PCBP3	54039	broad.mit.edu	37	chr21	47329321	47329321	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaagcccccagtgaCgctgaggctggtggtgcctg	14	14	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47329321C>T	ENST00000400314.1	+	8	730	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	131	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGTGACGCTGAGGCTG	0.597																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(391-393)aCg>aTg		poly(rC) binding protein 3							56	65	62					21																	47329321		2098	4249	6347	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47329321C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.392C>T	21.37:g.47329321C>T	ENSP00000383168:p.Thr131Met					PCBP3_ENST00000400304.1_Missense_Mutation_p.T99M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T131M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T131M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T131M|PCBP3_ENST00000468429.1_3'UTR	p.T131M			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	8	730	+	all_hematologic(128;0.24)		131			KH 2.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.392C>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105317	0.77096	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.0	5.0	0.66597	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.997;0.956;1.0;0.999;0.978;1.0;0.986	T	0.75331	-0.3355	10	0.87932	D	0	-20.0627	18.6823	0.91551	0.0:1.0:0.0:0.0	.	99;131;99;131;131;131;131	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	M	131;131;131;131;131;131;107;99	ENSP00000383168:T131M;ENSP00000383165:T131M;ENSP00000383164:T131M;ENSP00000383163:T131M;ENSP00000401198:T131M;ENSP00000383160:T107M;ENSP00000383159:T99M	ENSP00000330225:T131M	T	+	2	0	PCBP3	46153749	1.000000	0.71417	0.360000	0.25837	0.615000	0.37417	7.331000	0.79192	2.502000	0.84385	0.655000	0.94253	ACG		0.597	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			103	326	0	0	0	1	0	103	326					T	47329321	C	T	47329321	3	4	79	1	0	0	0	0	1	0	0	0	11544	536	19	1	414	1	PCBP3	21	47329321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378526	47329321	800574	20697	31014											
PCBP3	54039	broad.mit.edu	37	chr21	47330914	47330914	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgccatcatccagtgCgtcaagcagatctgtgtggt	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47330914C>T	ENST00000400314.1	+	9	908	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	190					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCCAGTGCGTCAAGCAGA	0.642																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(568-570)tgC>tgT		poly(rC) binding protein 3							89	96	94					21																	47330914		2184	4283	6467	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47330914C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.570C>T	21.37:g.47330914C>T						PCBP3_ENST00000400304.1_Silent_p.C158C|PCBP3_ENST00000400309.1_Silent_p.C190C|PCBP3_ENST00000400308.1_Silent_p.C190C|PCBP3_ENST00000449640.1_Silent_p.C190C|PCBP3_ENST00000400310.1_Silent_p.C190C|PCBP3_ENST00000468429.1_3'UTR	p.C190C			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	9	908	+	all_hematologic(128;0.24)		190					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.570C>T	CCDS42974.2																																																																																				0.642	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			65	261	0	0	0	1	0	65	261					T	47330914	C	T	47330914	2	4	79	1	0	0	0	0	0	0	0	1	11544	776	27	1		1	PCBP3	21	47330914	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1593	47330914	798981	20698	31015											
PCBP3	54039	broad.mit.edu	37	chr21	47337513	47337513	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctctctaggcctacacaatCcagggacagtatgccatccc	7	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47337513C>T	ENST00000400314.1	+	11	1025	c.687C>T	c.(685-687)atC>atT	p.I229I	PCBP3_ENST00000400309.1_Silent_p.I229I|PCBP3_ENST00000400304.1_Silent_p.I220I|PCBP3_ENST00000400310.1_Silent_p.I229I|PCBP3_ENST00000449640.1_Silent_p.I229I|PCBP3_ENST00000400308.1_Silent_p.I204I			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	229					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCTACACAATCCAGGGACAGT	0.562																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(685-687)atC>atT		poly(rC) binding protein 3							217	236	230					21																	47337513		2088	4215	6303	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47337513C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.687C>T	21.37:g.47337513C>T						PCBP3_ENST00000400304.1_Silent_p.I220I|PCBP3_ENST00000400309.1_Silent_p.I229I|PCBP3_ENST00000400308.1_Silent_p.I204I|PCBP3_ENST00000449640.1_Silent_p.I229I|PCBP3_ENST00000400310.1_Silent_p.I229I|PCBP3_ENST00000468429.1_3'UTR	p.I229I			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	11	1025	+	all_hematologic(128;0.24)		229					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.687C>T	CCDS42974.2																																																																																				0.562	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			98	370	0	0	0	1	0	98	370					T	47337513	C	T	47337513	2	4	79	1	0	0	0	0	0	0	0	1	11544	845	30	2		2	PCBP3	21	47337513	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6599	47337513	792382	20699	31016											
COL6A1	1291	broad.mit.edu	37	chr21	47410314	47410314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agagaagggcaagcgtggcaTcgacggggtggacggcgtga	20	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47410314T>C	ENST00000361866.3	+	13	1094	c.980T>C	c.(979-981)aTc>aCc	p.I327T		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	327	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AAGCGTGGCATCGACGGGGTG	0.657																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(979-981)aTc>aCc		collagen, type VI, alpha 1	Palifermin(DB00039)						41	36	38					21																	47410314		2201	4299	6500	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410314T>C	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.980T>C	21.37:g.47410314T>C	ENSP00000355180:p.Ile327Thr						p.I327T	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	13	1094	+	all_hematologic(128;0.24)		327			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.980T>C	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003781	0.35320	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93133	-3.17	4.79	4.79	0.61399	.	0.462231	0.20711	N	0.087098	D	0.92064	0.7485	L	0.33668	1.02	0.23636	N	0.997236	D	0.63880	0.993	P	0.57620	0.824	D	0.83907	0.0293	10	0.11182	T	0.66	-14.5701	13.5188	0.61555	0.0:0.0:0.0:1.0	.	327	P12109	CO6A1_HUMAN	T	327	ENSP00000355180:I327T	ENSP00000355180:I327T	I	+	2	0	COL6A1	46234742	0.853000	0.29707	0.835000	0.33067	0.796000	0.44982	2.119000	0.41958	1.791000	0.52520	0.533000	0.62120	ATC		0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		54	201	0	0	0	1	0	54	201					C	47410314	T	C	47410314	3	2	79	1	0	0	0	0	1	0	0	0	3708	1435	50	4	1030	4	COL6A1	21	47410314	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	72801	47410314	719581	20700	31017											
COL6A1	1291	broad.mit.edu	37	chr21	47423624	47423624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgacccgcttctaccgCgaggcctcgtccggcgctgc	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47423624C>T	ENST00000361866.3	+	35	2898	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	928	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCTTCTACCGCGAGGCCTCGT	0.637																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2782-2784)cgC>cgT		collagen, type VI, alpha 1	Palifermin(DB00039)						31	26	28					21																	47423624		2202	4298	6500	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423624C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2784C>T	21.37:g.47423624C>T						COL6A1_ENST00000498614.1_3'UTR	p.R928R	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2898	+	all_hematologic(128;0.24)		928			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2784C>T	CCDS13727.1																																																																																				0.637	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		42	153	0	0	0	1	0	42	153					T	47423624	C	T	47423624	2	4	79	1	0	0	0	0	0	0	0	1	3708	755	27	1		1	COL6A1	21	47423624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13310	47423624	706271	20701	31018											
COL6A2	1292	broad.mit.edu	37	chr21	47532275	47532275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaccgacggccacgtcacCggcagcccctgcgggggcat	13	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47532275C>T	ENST00000300527.4	+	3	602	c.498C>T	c.(496-498)acC>acT	p.T166T	COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000310645.5_Silent_p.T166T|COL6A2_ENST00000409416.1_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	166	Nonhelical region.|VWFA 1. {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)		GCCACGTCACCGGCAGCCCCT	0.701																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(496-498)acC>acT		collagen, type VI, alpha 2							12	14	13					21																	47532275		2141	4192	6333	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532275C>T	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.498C>T	21.37:g.47532275C>T						COL6A2_ENST00000310645.5_Silent_p.T166T|COL6A2_ENST00000357838.4_Silent_p.T166T|COL6A2_ENST00000397763.1_Silent_p.T166T|COL6A2_ENST00000409416.1_Silent_p.T166T	p.T166T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	602	+	Breast(49;0.245)		166			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.498C>T	CCDS13728.1																																																																																				0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			33	124	0	0	0	1	0	33	124					T	47532275	C	T	47532275	2	4	79	1	0	0	0	0	0	0	0	1	3709	639	23	1		1	COL6A2	21	47532275	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108651	47532275	597620	20702	31019											
COL6A2	1292	broad.mit.edu	37	chr21	47538546	47538546	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agggggaccctggccgcccaGgacgcagagggcccccggga	18	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47538546G>T	ENST00000300527.4	+	13	1239	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	379	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)		TGGCCGCCCAGGACGCAGAGG	0.682																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1135-1137)Gga>Tga		collagen, type VI, alpha 2							26	30	28					21																	47538546		2199	4295	6494	SO:0001587	stop_gained	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47538546G>T	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.1135G>T	21.37:g.47538546G>T	ENSP00000300527:p.Gly379*					COL6A2_ENST00000310645.5_Nonsense_Mutation_p.G379*|COL6A2_ENST00000357838.4_Nonsense_Mutation_p.G379*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.G379*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.G379*	p.G379*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	13	1239	+	Breast(49;0.245)		379			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Nonsense_Mutation	SNP	ENST00000300527.4	37	c.1135G>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	39	7.405156	0.98262	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.3025	16.6052	0.84826	0.0:0.0:1.0:0.0	.	.	.	.	X	379	.	ENSP00000300527:G379X	G	+	1	0	COL6A2	46362974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.715000	0.84713	2.151000	0.67156	0.591000	0.81541	GGA		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			29	117	1	0	3.11337e-16	1	3.41587e-16	29	117					T	47538546	G	T	47538546	4	4	79	1	0	0	0	0	0	1	0	0	3709	1001	35	3	1181	3	COL6A2	21	47538546	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6271	47538546	591349	20703	31020											
COL6A2	1292	broad.mit.edu	37	chr21	47546054	47546054	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgaaaacctctactccatCgcctgcgacaagccacagca	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47546054C>T	ENST00000300527.4	+	26	2429	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000310645.5_Silent_p.I775I|COL6A2_ENST00000409416.1_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	775	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACTCCATCGCCTGCGACA	0.602																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2323-2325)atC>atT		collagen, type VI, alpha 2							200	197	198					21																	47546054		2203	4299	6502	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47546054C>T	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.2325C>T	21.37:g.47546054C>T						COL6A2_ENST00000310645.5_Silent_p.I775I|COL6A2_ENST00000357838.4_Silent_p.I775I|COL6A2_ENST00000397763.1_Silent_p.I775I|COL6A2_ENST00000409416.1_Silent_p.I775I	p.I775I	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2429	+	Breast(49;0.245)		775			Nonhelical region.|VWFA 2.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.2325C>T	CCDS13728.1																																																																																				0.602	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			160	1410	0	0	0	1	0	160	1410					T	47546054	C	T	47546054	2	4	79	1	0	0	0	0	0	0	0	1	3709	874	31	1		1	COL6A2	21	47546054	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7508	47546054	583841	20704	31021											
COL6A2	1292	broad.mit.edu	37	chr21	47552176	47552176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgcaggcgtggtgcacGccatcaatgccatcgtgcgc	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552176G>A	ENST00000300527.4	+	28	2874	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	924	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)		CGTGGTGCACGCCATCAATGC	0.667																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2770-2772)Gcc>Acc		collagen, type VI, alpha 2							24	26	25					21																	47552176		2196	4299	6495	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552176G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2770G>A	21.37:g.47552176G>A	ENSP00000300527:p.Ala924Thr						p.A924T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2874	+	Breast(49;0.245)		924			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2770G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713630	0.48517	.	.	ENSG00000142173	ENST00000300527	D	0.82526	-1.62	4.18	4.18	0.49190	von Willebrand factor, type A (3);	0.118916	0.56097	U	0.000030	D	0.83229	0.5209	L	0.57536	1.79	0.80722	D	1	D	0.53619	0.961	P	0.50537	0.643	T	0.80688	-0.1271	10	0.10636	T	0.68	-24.3787	16.5088	0.84279	0.0:0.0:1.0:0.0	.	924	P12110	CO6A2_HUMAN	T	924	ENSP00000300527:A924T	ENSP00000300527:A924T	A	+	1	0	COL6A2	46376604	1.000000	0.71417	0.927000	0.36925	0.019000	0.09904	9.511000	0.98006	1.891000	0.54761	0.313000	0.20887	GCC		0.667	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			19	68	0	0	0	1	0	19	68					A	47552176	G	A	47552176	3	1	79	1	0	0	0	0	1	0	0	0	3709	1087	38	1	3206	1	COL6A2	21	47552176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6122	47552176	577719	20705	31022											
COL6A2	1292	broad.mit.edu	37	chr21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccttgggcagcgacGtggacatggacgtgctcacc	15	12	1	0	rs140020002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	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)		GGGCAGCGACGTGGACATGGA	0.662																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2938-2940)Gtg>Atg		collagen, type VI, alpha 2		G	MET/VAL	2,4402	4.2+/-10.8	0,2,2200	70	58	62		2938	4.4	1	21	dbSNP_134	62	0,8600		0,0,4300	no	missense	COL6A2	NM_001849.3	21	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	980/1020	47552344	2,13002	2202	4300	6502	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552344G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2938G>A	21.37:g.47552344G>A	ENSP00000300527:p.Val980Met						p.V980M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	3042	+	Breast(49;0.245)		980			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2938G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717812	0.30413	4.54E-4	0.0	ENSG00000142173	ENST00000300527	T	0.80393	-1.37	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.388276	0.26069	N	0.026522	D	0.86887	0.6041	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87150	0.2208	10	0.56958	D	0.05	-16.4704	10.6536	0.45663	0.0893:0.0:0.9107:0.0	.	980	P12110	CO6A2_HUMAN	M	980	ENSP00000300527:V980M	ENSP00000300527:V980M	V	+	1	0	COL6A2	46376772	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	5.117000	0.64667	2.001000	0.58596	0.297000	0.19635	GTG		0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			37	153	0	0	0	1	0	37	153					A	47552344	G	A	47552344	3	1	79	1	0	0	0	0	1	0	0	0	3709	1145	40	1	3374	1	COL6A2	21	47552344	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	168	47552344	577551	20706	31023											
FTCD	10841	broad.mit.edu	37	chr21	47556926	47556926	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgggtctccaagcagTccagcaccagtgcagcctgg	12	16	1	0	rs144456078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47556926T>A	ENST00000291670.5	-	14	1644	c.1601A>T	c.(1600-1602)gAc>gTc	p.D534V	FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000355384.2_3'UTR|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000359679.2_Silent_p.G527G	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	534	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CTCCAAGCAGTCCAGCACCAG	0.642																																						ENST00000291670.5																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(1600-1602)gAc>gTc		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						65	62	63					21																	47556926		2202	4299	6501	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47556926T>A	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1601A>T	21.37:g.47556926T>A	ENSP00000291670:p.Asp534Val					FTCD_ENST00000397748.1_Silent_p.G527G|FTCD_ENST00000397746.3_Missense_Mutation_p.D534V|FTCD_ENST00000397743.1_3'UTR|FTCD_ENST00000359679.2_Silent_p.G527G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_3'UTR	p.D534V	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN		Colorectal(79;0.235)	14	1644	-	Breast(49;0.214)		534			Cyclodeaminase/cyclohydrolase (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.1601A>T	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	T	3.124	-0.179945	0.06380	.	.	ENSG00000160282	ENST00000291670;ENST00000446405;ENST00000397746	T;T	0.45668	0.89;0.89	3.5	1.03	0.20045	Cyclodeaminase/cyclohydrolase (1);	.	.	.	.	T	0.35098	0.0920	M	0.65498	2.005	0.54753	D	0.999984	B	0.25955	0.138	B	0.24006	0.05	T	0.17837	-1.0356	9	0.48119	T	0.1	.	4.1292	0.10141	0.0:0.2331:0.1798:0.587	.	534	O95954	FTCD_HUMAN	V	534;68;534	ENSP00000291670:D534V;ENSP00000380854:D534V	ENSP00000291670:D534V	D	-	2	0	FTCD	46381354	0.011000	0.17503	0.469000	0.27204	0.064000	0.16182	0.238000	0.18004	0.365000	0.24400	0.374000	0.22700	GAC		0.642	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		40	141	0	0	0	1	0	40	141					A	47556926	T	A	47556926	3	1	79	1	0	0	0	0	1	0	0	0	6108	1667	58	5	28	5	FTCD	21	47556926	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4582	47556926	572969	20707	31024											
FTCD	10841	broad.mit.edu	37	chr21	47571627	47571627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggagctgggaccaaagtCgggcgcccagtcggcctgct	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47571627C>T	ENST00000291670.5	-	5	524	c.481G>A	c.(481-483)Gac>Aac	p.D161N	FTCD_ENST00000397748.1_Missense_Mutation_p.D161N|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	161	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGACCAAAGTCGGGCGCCCAG	0.652																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(481-483)Gac>Aac		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						44	55	51					21																	47571627		2202	4300	6502	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47571627C>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.481G>A	21.37:g.47571627C>T	ENSP00000291670:p.Asp161Asn					FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.D161N|FTCD_ENST00000291670.5_Missense_Mutation_p.D161N|FTCD_ENST00000397743.1_Missense_Mutation_p.D161N|FTCD_ENST00000359679.2_Missense_Mutation_p.D161N|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Missense_Mutation_p.D161N	p.D161N			O95954	FTCD_HUMAN		Colorectal(79;0.235)	5	524	-	Breast(49;0.214)		161			Formiminotransferase N-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.481G>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773417	0.90108	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.57	4.57	0.56435	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.120225	0.53938	D	0.000044	D	0.94640	0.8272	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.97;0.979;0.979	D	0.96523	0.9387	10	0.87932	D	0	.	17.362	0.87353	0.0:1.0:0.0:0.0	.	161;161;161	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	N	161	ENSP00000291670:D161N;ENSP00000380856:D161N;ENSP00000352707:D161N;ENSP00000347545:D161N;ENSP00000380854:D161N;ENSP00000380851:D161N	ENSP00000291670:D161N	D	-	1	0	FTCD	46396055	1.000000	0.71417	0.838000	0.33150	0.449000	0.32228	7.593000	0.82686	2.073000	0.62155	0.591000	0.81541	GAC		0.652	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		56	249	0	0	0	1	0	56	249					T	47571627	C	T	47571627	3	4	79	1	0	0	0	0	1	0	0	0	6108	884	31	1	1184	1	FTCD	21	47571627	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14701	47571627	558268	20708	31025											
LSS	4047	broad.mit.edu	37	chr21	47639448	47639448	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaaacattcaggacagccaGccagaacttcccccaggagg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47639448G>T	ENST00000397728.3	-	6	667	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	LSS_ENST00000464357.1_5'UTR|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Missense_Mutation_p.L197M|LSS_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000457828.2_Missense_Mutation_p.L117M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	197					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGGACAGCCAGCCAGAACTTC	0.567																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(589-591)Ctg>Atg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							160	116	131					21																	47639448		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47639448G>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.589C>A	21.37:g.47639448G>T	ENSP00000380837:p.Leu197Met					LSS_ENST00000522411.1_Missense_Mutation_p.L186M|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000356396.4_Missense_Mutation_p.L197M|LSS_ENST00000457828.2_Missense_Mutation_p.L117M	p.L197M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			6	667	-	Breast(49;0.214)		197					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.589C>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120599	0.56613	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.62	0.586	0.17434	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.64402	D	0.000002	T	0.77565	0.4149	M	0.87547	2.89	0.49483	D	0.999797	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76418	-0.2966	10	0.54805	T	0.06	.	9.4085	0.38477	0.3965:0.0:0.6035:0.0	.	186;197	E9PEI9;P48449	.;ERG7_HUMAN	M	197;117;197;186;198	ENSP00000348762:L197M;ENSP00000409191:L117M;ENSP00000380837:L197M;ENSP00000429133:L186M;ENSP00000391368:L198M	ENSP00000348762:L197M	L	-	1	2	LSS	46463876	1.000000	0.71417	0.984000	0.44739	0.921000	0.55340	1.199000	0.32235	0.173000	0.19788	-0.140000	0.14226	CTG		0.567	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			19	181	1	0	5.03518e-11	1	5.3609e-11	19	181					T	47639448	G	T	47639448	3	4	79	1	0	0	0	0	1	0	0	0	9103	962	34	3	1677	3	LSS	21	47639448	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	67821	47639448	490447	20709	31026											
MCM3AP	8888	broad.mit.edu	37	chr21	47664864	47664864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caaactcagtgacaggccagGacaggtcacacagctgttca	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47664864G>A	ENST00000397708.1	-	24	5149	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1632					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)					GACAGGCCAGGACAGGTCACA	0.597																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4894-4896)tCc>tTc		minichromosome maintenance complex component 3 associated protein							93	79	84					21																	47664864		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47664864G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4895C>T	21.37:g.47664864G>A	ENSP00000380820:p.Ser1632Phe					MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1632F|MCM3AP_ENST00000467026.1_5'UTR	p.S1632F			O60318	MCM3A_HUMAN			24	5149	-	Breast(49;0.112)		1632					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4895C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830034	0.50845	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.13538	2.58;2.58	5.45	5.45	0.79879	.	0.052103	0.85682	D	0.000000	T	0.40839	0.1133	M	0.73598	2.24	0.47819	D	0.999521	D;D	0.89917	1.0;1.0	D;D	0.78314	0.986;0.991	T	0.24584	-1.0156	10	0.72032	D	0.01	-24.0304	19.28	0.94050	0.0:0.0:1.0:0.0	.	1632;127	O60318;B3KT88	MCM3A_HUMAN;.	F	1632;1632;127	ENSP00000380820:S1632F;ENSP00000291688:S1632F	ENSP00000291688:S1632F	S	-	2	0	MCM3AP	46489292	1.000000	0.71417	0.999000	0.59377	0.220000	0.24768	5.694000	0.68272	2.545000	0.85829	0.655000	0.94253	TCC		0.597	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		18	163	0	0	0	1	0	18	163					A	47664864	G	A	47664864	3	1	79	1	0	0	0	0	1	0	0	0	9429	1174	41	2	1071	2	MCM3AP	21	47664864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25416	47664864	465031	20710	31027											
MCM3AP	8888	broad.mit.edu	37	chr21	47671525	47671525	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagcgtctgaatcccaccaGcatcgctggatgtgtcatcc	9	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47671525G>T	ENST00000397708.1	-	21	4462	c.4208C>A	c.(4207-4209)gCt>gAt	p.A1403D	AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1403					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)					AATCCCACCAGCATCGCTGGA	0.373																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4207-4209)gCt>gAt		minichromosome maintenance complex component 3 associated protein							91	81	85					21																	47671525		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47671525G>T	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.4208C>A	21.37:g.47671525G>T	ENSP00000380820:p.Ala1403Asp					MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1403D|MCM3AP_ENST00000467026.1_5'UTR	p.A1403D			O60318	MCM3A_HUMAN			21	4462	-	Breast(49;0.112)		1403					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4208C>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863979	0.32884	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.46819	0.86;0.86	5.44	1.23	0.21249	.	0.684405	0.15053	N	0.283175	T	0.29458	0.0734	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.12766	T	0.61	-2.1432	4.6531	0.12605	0.18:0.0:0.3759:0.444	.	1403	O60318	MCM3A_HUMAN	D	1403	ENSP00000380820:A1403D;ENSP00000291688:A1403D	ENSP00000291688:A1403D	A	-	2	0	MCM3AP	46495953	0.000000	0.05858	0.696000	0.30242	0.841000	0.47740	0.303000	0.19210	0.240000	0.21263	0.655000	0.94253	GCT		0.373	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		25	126	1	0	1.77063e-15	1	1.9355e-15	25	126					T	47671525	G	T	47671525	3	4	79	1	0	0	0	0	1	0	0	0	9429	971	34	3	1770	3	MCM3AP	21	47671525	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6661	47671525	458370	20711	31028											
MCM3AP	8888	broad.mit.edu	37	chr21	47685237	47685237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaaaaagagtccctacctCgtcagagtacatgggcacgg	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47685237C>T	ENST00000397708.1	-	13	3486	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1078					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)	p.E1078K(1)		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)					GTCCCTACCTCGTCAGAGTAC	0.607																																						ENST00000397708.1																			1	Substitution - Missense(1)	p.E1078K(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(3232-3234)Gag>Aag		minichromosome maintenance complex component 3 associated protein							48	43	44					21																	47685237		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47685237C>T	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.3232G>A	21.37:g.47685237C>T	ENSP00000380820:p.Glu1078Lys					MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1078K	p.E1078K			O60318	MCM3A_HUMAN			13	3486	-	Breast(49;0.112)		1078					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.3232G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	1.363	-0.588107	0.03799	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03745	3.82;3.82	5.29	-3.19	0.05171	.	1.031090	0.07574	N	0.919099	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.48139	-0.9061	10	0.07030	T	0.85	-0.0616	4.9528	0.14023	0.2381:0.2867:0.0:0.4752	.	1078	O60318	MCM3A_HUMAN	K	1078	ENSP00000380820:E1078K;ENSP00000291688:E1078K	ENSP00000291688:E1078K	E	-	1	0	MCM3AP	46509665	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-0.207000	0.09384	-0.454000	0.07066	0.655000	0.94253	GAG		0.607	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		46	162	0	0	0	1	0	46	162					T	47685237	C	T	47685237	3	4	79	1	0	0	0	0	1	0	0	0	9429	893	31	1	2778	1	MCM3AP	21	47685237	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13712	47685237	444658	20712	31029											
MCM3AP	8888	broad.mit.edu	37	chr21	47686901	47686901	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcagctcttacccgtcGgaaacggtgaggccgtggca	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47686901G>A	ENST00000397708.1	-	11	3038	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	MCM3AP_ENST00000291688.1_Silent_p.S928S			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	928	SAC3 homology.				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)					CTTACCCGTCGGAAACGGTGA	0.552																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2782-2784)tcC>tcT		minichromosome maintenance complex component 3 associated protein							70	54	59					21																	47686901		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47686901G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2784C>T	21.37:g.47686901G>A						MCM3AP_ENST00000291688.1_Silent_p.S928S	p.S928S			O60318	MCM3A_HUMAN			11	3038	-	Breast(49;0.112)		928					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.2784C>T	CCDS13734.1																																																																																				0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		30	120	0	0	0	1	0	30	120					A	47686901	G	A	47686901	2	1	79	1	0	0	0	0	0	0	0	1	9429	1103	39	1		1	MCM3AP	21	47686901	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1664	47686901	442994	20713	31030											
MCM3AP	8888	broad.mit.edu	37	chr21	47690332	47690332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctgactgaagtaacagtGtaaaagacaagcgttcaggt	10	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47690332G>A	ENST00000397708.1	-	10	2865	c.2611C>T	c.(2611-2613)Cac>Tac	p.H871Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	871	SAC3 homology.				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)					AAGTAACAGTGTAAAAGACAA	0.408																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2611-2613)Cac>Tac		minichromosome maintenance complex component 3 associated protein							94	93	93					21																	47690332		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47690332G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2611C>T	21.37:g.47690332G>A	ENSP00000380820:p.His871Tyr					MCM3AP_ENST00000291688.1_Missense_Mutation_p.H871Y	p.H871Y			O60318	MCM3A_HUMAN			10	2865	-	Breast(49;0.112)		871					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.2611C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768739	0.90020	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.29655	1.56;1.56	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.79011	2.435	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.58847	-0.7564	10	0.54805	T	0.06	-23.8917	20.4366	0.99092	0.0:0.0:1.0:0.0	.	871	O60318	MCM3A_HUMAN	Y	871	ENSP00000380820:H871Y;ENSP00000291688:H871Y	ENSP00000291688:H871Y	H	-	1	0	MCM3AP	46514760	1.000000	0.71417	0.589000	0.28718	0.976000	0.68499	9.526000	0.98042	2.837000	0.97791	0.591000	0.81541	CAC		0.408	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		57	412	0	0	0	1	0	57	412					A	47690332	G	A	47690332	3	1	79	1	0	0	0	0	1	0	0	0	9429	1377	48	2	3411	2	MCM3AP	21	47690332	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3431	47690332	439563	20714	31031											
MCM3AP	8888	broad.mit.edu	37	chr21	47692708	47692708	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacttctcaatcagggacacCgtcagggggtcacagaggtg	13	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47692708C>T	ENST00000397708.1	-	9	2486	c.2232G>A	c.(2230-2232)acG>acA	p.T744T	MCM3AP_ENST00000291688.1_Silent_p.T744T			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	744	SAC3 homology.				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)	p.T744T(1)		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)					TCAGGGACACCGTCAGGGGGT	0.547																																						ENST00000397708.1																			1	Substitution - coding silent(1)	p.T744T(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2230-2232)acG>acA		minichromosome maintenance complex component 3 associated protein							96	79	85					21																	47692708		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47692708C>T	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.2232G>A	21.37:g.47692708C>T						MCM3AP_ENST00000291688.1_Silent_p.T744T	p.T744T			O60318	MCM3A_HUMAN			9	2486	-	Breast(49;0.112)		744					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.2232G>A	CCDS13734.1																																																																																				0.547	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		57	265	0	0	0	1	0	57	265					T	47692708	C	T	47692708	2	4	79	1	0	0	0	0	0	0	0	1	9429	639	23	1		1	MCM3AP	21	47692708	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2376	47692708	437187	20715	31032											
MCM3AP	8888	broad.mit.edu	37	chr21	47697518	47697518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccacagtgcctatcaggGtactgagggagagcacacat	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47697518G>A	ENST00000397708.1	-	6	2035	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	594					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)					GCCTATCAGGGTACTGAGGGA	0.572																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(1780-1782)aCc>aTc		minichromosome maintenance complex component 3 associated protein							155	131	139					21																	47697518		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47697518G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1781C>T	21.37:g.47697518G>A	ENSP00000380820:p.Thr594Ile					MCM3AP_ENST00000291688.1_Missense_Mutation_p.T594I	p.T594I			O60318	MCM3A_HUMAN			6	2035	-	Breast(49;0.112)		594					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1781C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.435	0.849474	0.17034	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03553	3.89;3.89	5.74	4.81	0.61882	.	1.098820	0.06689	N	0.769359	T	0.05181	0.0138	L	0.44542	1.39	0.21527	N	0.99966	B	0.12630	0.006	B	0.17098	0.017	T	0.33240	-0.9876	10	0.28530	T	0.3	-0.202	8.6736	0.34165	0.0:0.1341:0.6186:0.2473	.	594	O60318	MCM3A_HUMAN	I	594	ENSP00000380820:T594I;ENSP00000291688:T594I	ENSP00000291688:T594I	T	-	2	0	MCM3AP	46521946	0.922000	0.31269	0.073000	0.20177	0.298000	0.27526	1.328000	0.33758	2.715000	0.92844	0.655000	0.94253	ACC		0.572	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		48	492	0	0	0	1	0	48	492					A	47697518	G	A	47697518	3	1	79	1	0	0	0	0	1	0	0	0	9429	1261	44	2	4257	2	MCM3AP	21	47697518	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4810	47697518	432377	20716	31033											
PCNT	5116	broad.mit.edu	37	chr21	47754626	47754626	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccacacaccagaacagCgtgggatcttcacaatcagt	9	12	3	2	rs199564971		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47754626C>T	ENST00000359568.5	+	3	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	195					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)					ACCAGAACAGCGTGGGATCTT	0.488																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(583-585)Cgt>Tgt		pericentrin							185	139	155					21																	47754626		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754626C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.583C>T	21.37:g.47754626C>T	ENSP00000352572:p.Arg195Cys					PCNT_ENST00000480896.1_3'UTR	p.R195C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	690	+	Breast(49;0.112)		195					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.583C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	1.981	-0.434157	0.04669	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01685	4.69	0.235	-0.47	0.12131	.	.	.	.	.	T	0.01353	0.0044	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.54805	T	0.06	.	.	.	.	.	77;195	O95613-2;O95613	.;PCNT_HUMAN	C	195;182	ENSP00000352572:R195C	ENSP00000338675:R182C	R	+	1	0	PCNT	46579054	0.219000	0.23619	0.002000	0.10522	0.002000	0.02628	0.882000	0.28186	-0.671000	0.05274	-0.657000	0.03884	CGT		0.488	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		40	353	0	0	0	1	0	40	353					T	47754626	C	T	47754626	3	4	79	1	0	0	0	0	1	0	0	0	11632	768	27	1	593	1	PCNT	21	47754626	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57108	47754626	375269	20717	31034											
PCNT	5116	broad.mit.edu	37	chr21	47766794	47766794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgggagatgctcaacagCcggcgtgcccaggagctggc	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47766794C>T	ENST00000359568.5	+	5	965	c.858C>T	c.(856-858)agC>agT	p.S286S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	286	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)					TGCTCAACAGCCGGCGTGCCC	0.642																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(856-858)agC>agT		pericentrin							30	26	27					21																	47766794		2197	4298	6495	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47766794C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.858C>T	21.37:g.47766794C>T						PCNT_ENST00000480896.1_3'UTR	p.S286S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			5	965	+	Breast(49;0.112)		286			Glu-rich.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.858C>T	CCDS33592.1																																																																																				0.642	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		16	53	0	0	0	1	0	16	53					T	47766794	C	T	47766794	2	4	79	1	0	0	0	0	0	0	0	1	11632	738	26	2		2	PCNT	21	47766794	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12168	47766794	363101	20718	31035											
PCNT	5116	broad.mit.edu	37	chr21	47769052	47769052	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaagaattggcagaaCagagagctgagttggagaag	14	4	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769052C>T	ENST00000359568.5	+	7	1266	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	387	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)					ATTGGCAGAACAGAGAGCTGA	0.368																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1159-1161)Cag>Tag		pericentrin							119	124	123					21																	47769052		2203	4300	6503	SO:0001587	stop_gained	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769052C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1159C>T	21.37:g.47769052C>T	ENSP00000352572:p.Gln387*					PCNT_ENST00000480896.1_3'UTR	p.Q387*	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			7	1266	+	Breast(49;0.112)		387			Glu-rich.		O43152|Q7Z7C9	Nonsense_Mutation	SNP	ENST00000359568.5	37	c.1159C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	37	6.425935	0.97555	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.0807	0.59112	0.0:0.8266:0.1734:0.0	.	.	.	.	X	387;374	.	ENSP00000338675:Q374X	Q	+	1	0	PCNT	46593480	0.997000	0.39634	1.000000	0.80357	0.868000	0.49771	3.357000	0.52277	2.630000	0.89119	0.558000	0.71614	CAG		0.368	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		55	577	0	0	0	1	0	55	577					T	47769052	C	T	47769052	4	4	79	1	0	0	0	0	0	1	0	0	11632	479	17	2	1185	2	PCNT	21	47769052	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2258	47769052	360843	20719	31036											
PCNT	5116	broad.mit.edu	37	chr21	47769729	47769729	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agagcgagaaagaaaaacagCtggaggtgggcagcagcttc	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769729C>A	ENST00000359568.5	+	8	1446	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	447	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)					AGAAAAACAGCTGGAGGTGGG	0.418																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(1339-1341)Ctg>Atg		pericentrin							65	68	67					21																	47769729		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769729C>A	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.1339C>A	21.37:g.47769729C>A	ENSP00000352572:p.Leu447Met					PCNT_ENST00000480896.1_3'UTR	p.L447M	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			8	1446	+	Breast(49;0.112)		447			Glu-rich.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.1339C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748161	0.30955	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.27256	1.68	3.98	3.08	0.35506	.	1.083490	0.07525	N	0.911145	T	0.38585	0.1046	L	0.42245	1.32	0.09310	N	0.999999	D;D	0.71674	0.998;0.997	D;D	0.70935	0.971;0.936	T	0.18147	-1.0346	10	0.48119	T	0.1	.	4.6375	0.12531	0.2353:0.6496:0.0:0.1151	.	329;447	O95613-2;O95613	.;PCNT_HUMAN	M	447;434	ENSP00000352572:L447M	ENSP00000338675:L434M	L	+	1	2	PCNT	46594157	0.633000	0.27181	0.235000	0.24058	0.204000	0.24138	0.734000	0.26101	1.269000	0.44280	0.551000	0.68910	CTG		0.418	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		20	281	1	0	7.41877e-09	1	7.77385e-09	20	281					A	47769729	C	A	47769729	3	1	79	1	0	0	0	0	1	0	0	0	11632	796	28	3	1369	3	PCNT	21	47769729	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	677	47769729	360166	20720	31037											
PCNT	5116	broad.mit.edu	37	chr21	47786808	47786808	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccttgattctttggaatcCtgttacctctctgaatttca	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47786808C>T	ENST00000359568.5	+	15	3026	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	973					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)					CTTTGGAATCCTGTTACCTCT	0.542																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2917-2919)tcC>tcT		pericentrin							79	86	84					21																	47786808		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47786808C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2919C>T	21.37:g.47786808C>T						PCNT_ENST00000480896.1_3'UTR	p.S973S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			15	3026	+	Breast(49;0.112)		973					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2919C>T	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		20	570	0	0	0	1	0	20	570					T	47786808	C	T	47786808	2	4	79	1	0	0	0	0	0	0	0	1	11632	668	24	2		2	PCNT	21	47786808	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17079	47786808	343087	20721	31038											
PCNT	5116	broad.mit.edu	37	chr21	47817955	47817955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccgagcgggagcacgagCgcgaggagttccagcaggag	18	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47817955C>T	ENST00000359568.5	+	23	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1492					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)					GGAGCACGAGCGCGAGGAGTT	0.706																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(4474-4476)Cgc>Tgc		pericentrin							18	18	18					21																	47817955		2188	4293	6481	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47817955C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4474C>T	21.37:g.47817955C>T	ENSP00000352572:p.Arg1492Cys					PCNT_ENST00000480896.1_3'UTR	p.R1492C	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			23	4581	+	Breast(49;0.112)		1492					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4474C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098812	0.56183	.	.	ENSG00000160299	ENST00000359568	T	0.74315	-0.83	4.96	4.96	0.65561	.	0.000000	0.33005	N	0.005383	D	0.85544	0.5721	M	0.83953	2.67	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86913	0.2062	10	0.87932	D	0	.	10.7392	0.46143	0.1895:0.8104:0.0:0.0	.	1374;1492	O95613-2;O95613	.;PCNT_HUMAN	C	1492	ENSP00000352572:R1492C	ENSP00000352572:R1492C	R	+	1	0	PCNT	46642383	1.000000	0.71417	0.914000	0.36105	0.205000	0.24178	1.539000	0.36104	2.564000	0.86499	0.561000	0.74099	CGC		0.706	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		11	41	0	0	0	1	0	11	41					T	47817955	C	T	47817955	3	4	79	1	0	0	0	0	1	0	0	0	11632	768	27	1	4564	1	PCNT	21	47817955	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31147	47817955	311940	20722	31039											
PCNT	5116	broad.mit.edu	37	chr21	47831953	47831953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcctcccatgatgctgCtttggagccggttgtccctg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831953C>A	ENST00000359568.5	+	28	6073	c.5966C>A	c.(5965-5967)gCt>gAt	p.A1989D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1989					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)					CATGATGCTGCTTTGGAGCCG	0.617																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5965-5967)gCt>gAt		pericentrin							23	26	25					21																	47831953		2188	4260	6448	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831953C>A	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.5966C>A	21.37:g.47831953C>A	ENSP00000352572:p.Ala1989Asp					PCNT_ENST00000480896.1_3'UTR	p.A1989D	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	6073	+	Breast(49;0.112)		1989					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5966C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	5.390	0.257216	0.10239	.	.	ENSG00000160299	ENST00000359568	T	0.01584	4.75	2.89	-3.84	0.04256	.	.	.	.	.	T	0.01320	0.0043	N	0.22421	0.69	0.09310	N	1	D;B	0.53745	0.962;0.0	P;B	0.45099	0.469;0.001	T	0.45425	-0.9262	9	0.13470	T	0.59	.	5.4084	0.16335	0.0:0.2433:0.5103:0.2463	.	1871;1989	O95613-2;O95613	.;PCNT_HUMAN	D	1989	ENSP00000352572:A1989D	ENSP00000352572:A1989D	A	+	2	0	PCNT	46656381	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.840000	0.01684	-0.580000	0.05944	-0.373000	0.07131	GCT		0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		39	167	1	0	2.27781e-18	1	2.52731e-18	39	167					A	47831953	C	A	47831953	3	1	79	1	0	0	0	0	1	0	0	0	11632	797	28	3	6076	3	PCNT	21	47831953	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13998	47831953	297942	20723	31040											
PCNT	5116	broad.mit.edu	37	chr21	47851714	47851714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaggacacaggaggcttGcgtgcaccaggacacacagg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851714G>A	ENST00000359568.5	+	38	8443	c.8336G>A	c.(8335-8337)tGc>tAc	p.C2779Y	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2779					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)					CAGGAGGCTTGCGTGCACCAG	0.627																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8335-8337)tGc>tAc		pericentrin							35	35	35					21																	47851714		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851714G>A	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.8336G>A	21.37:g.47851714G>A	ENSP00000352572:p.Cys2779Tyr					PCNT_ENST00000480896.1_3'UTR	p.C2779Y	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8443	+	Breast(49;0.112)		2779					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8336G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.981997	0.18812	.	.	ENSG00000160299	ENST00000359568	T	0.10960	2.82	3.24	3.24	0.37175	.	.	.	.	.	T	0.22551	0.0544	L	0.54323	1.7	0.09310	N	0.999997	D;D	0.69078	0.997;0.991	D;P	0.73380	0.98;0.687	T	0.08513	-1.0718	9	0.06099	T	0.92	.	13.8003	0.63196	0.0:0.0:1.0:0.0	.	2661;2779	O95613-2;O95613	.;PCNT_HUMAN	Y	2779	ENSP00000352572:C2779Y	ENSP00000352572:C2779Y	C	+	2	0	PCNT	46676142	0.830000	0.29337	0.778000	0.31720	0.009000	0.06853	2.827000	0.48112	1.549000	0.49425	0.563000	0.77884	TGC		0.627	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		14	132	0	0	0	1	0	14	132					A	47851714	G	A	47851714	3	1	79	1	0	0	0	0	1	0	0	0	11632	1319	46	2	8486	2	PCNT	21	47851714	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19761	47851714	278181	20724	31041											
PCNT	5116	broad.mit.edu	37	chr21	47851775	47851775	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagctgaaggaggagaagtcCcgggtggtggacttgcaagc	17	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851775C>T	ENST00000359568.5	+	38	8504	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2799					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)					AGGAGAAGTCCCGGGTGGTGG	0.602																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8395-8397)tcC>tcT		pericentrin							48	50	49					21																	47851775		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851775C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8397C>T	21.37:g.47851775C>T						PCNT_ENST00000480896.1_3'UTR	p.S2799S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8504	+	Breast(49;0.112)		2799					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.8397C>T	CCDS33592.1																																																																																				0.602	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		38	139	0	0	0	1	0	38	139					T	47851775	C	T	47851775	2	4	79	1	0	0	0	0	0	0	0	1	11632	610	22	2		2	PCNT	21	47851775	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61	47851775	278120	20725	31042											
PCNT	5116	broad.mit.edu	37	chr21	47851912	47851912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtaagtgccacactgaagtCgacggtggaagccctgcaca	13	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851912C>T	ENST00000359568.5	+	38	8641	c.8534C>T	c.(8533-8535)tCg>tTg	p.S2845L	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2845					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)					ACACTGAAGTCGACGGTGGAA	0.562																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(8533-8535)tCg>tTg		pericentrin							81	69	73					21																	47851912		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851912C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8534C>T	21.37:g.47851912C>T	ENSP00000352572:p.Ser2845Leu					PCNT_ENST00000480896.1_Intron	p.S2845L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			38	8641	+	Breast(49;0.112)		2845					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8534C>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625869	0.28889	.	.	ENSG00000160299	ENST00000359568	T	0.01527	4.8	4.7	1.88	0.25563	.	.	.	.	.	T	0.01523	0.0049	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47824	-0.9087	9	0.31617	T	0.26	.	9.2226	0.37386	0.0:0.692:0.0:0.308	.	2845	O95613	PCNT_HUMAN	L	2845	ENSP00000352572:S2845L	ENSP00000352572:S2845L	S	+	2	0	PCNT	46676340	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.510000	0.22723	0.171000	0.19730	0.655000	0.94253	TCG		0.562	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		21	201	0	0	0	1	0	21	201					T	47851912	C	T	47851912	3	4	79	1	0	0	0	0	1	0	0	0	11632	893	31	1	8684	1	PCNT	21	47851912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	47851912	277983	20726	31043											
PCNT	5116	broad.mit.edu	37	chr21	47860063	47860063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgaggcgcccagaccCcggccggcttccaccagctg	11	19	0	2	rs375486259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47860063C>T	ENST00000359568.5	+	42	9448	c.9341C>T	c.(9340-9342)cCc>cTc	p.P3114L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3114	Interaction with NEK2.				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)					CGCCCAGACCCCGGCCGGCTT	0.567																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(9340-9342)cCc>cTc		pericentrin		C	LEU/PRO	0,4406		0,0,2203	56	64	61		9341	2.1	0	21		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCNT	NM_006031.5	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	3114/3337	47860063	1,13005	2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47860063C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9341C>T	21.37:g.47860063C>T	ENSP00000352572:p.Pro3114Leu					PCNT_ENST00000480896.1_3'UTR	p.P3114L	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			42	9448	+	Breast(49;0.112)		3114			Interaction with NEK2.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.9341C>T	CCDS33592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.72|15.72	2.915887|2.915887	0.52546|0.52546	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160299|ENSG00000160299	ENST00000359568|ENST00000418394	T|T	0.01538|0.28454	4.79|1.61	4.96|4.96	2.12|2.12	0.27331|0.27331	.|.	.|.	.|.	.|.	.|.	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	B;B|.	0.18013|.	0.025;0.015|.	B;B|.	0.17433|.	0.018;0.008|.	T|T	0.28964|0.28964	-1.0027|-1.0027	9|7	0.56958|0.15499	D|T	0.05|0.54	.|.	5.8823|5.8823	0.18862|0.18862	0.1533:0.6805:0.0:0.1662|0.1533:0.6805:0.0:0.1662	.|.	2917;3114|.	O95613-2;O95613|.	.;PCNT_HUMAN|.	L|S	3114|95	ENSP00000352572:P3114L|ENSP00000404708:P95S	ENSP00000352572:P3114L|ENSP00000404708:P95S	P|P	+|+	2|1	0|0	PCNT|PCNT	46684491|46684491	0.060000|0.060000	0.20803|0.20803	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	2.134000|2.134000	0.42102|0.42102	0.335000|0.335000	0.23614|0.23614	-0.150000|-0.150000	0.13652|0.13652	CCC|CCG		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		111	509	0	0	0	1	0	111	509					T	47860063	C	T	47860063	3	4	79	1	0	0	0	0	1	0	0	0	11632	623	22	2	9507	2	PCNT	21	47860063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8151	47860063	269832	20727	31044											
DIP2A	23181	broad.mit.edu	37	chr21	47918539	47918539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctctttacggcgacccGggcgactcacctccactccg	11	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47918539G>A	ENST00000417564.2	+	5	469	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	DIP2A_ENST00000318711.7_Missense_Mutation_p.G150R|DIP2A_ENST00000466639.1_Missense_Mutation_p.G150R|DIP2A_ENST00000427143.2_Missense_Mutation_p.G86R|DIP2A_ENST00000435722.3_Missense_Mutation_p.G150R|DIP2A_ENST00000400274.1_Missense_Mutation_p.G150R|DIP2A_ENST00000457905.3_Missense_Mutation_p.G150R			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	150					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)		ACGGCGACCCGGGCGACTCAC	0.587																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(448-450)Ggg>Agg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							120	138	132					21																	47918539		2130	4229	6359	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918539G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.448G>A	21.37:g.47918539G>A	ENSP00000392066:p.Gly150Arg					DIP2A_ENST00000435722.3_Missense_Mutation_p.G150R|DIP2A_ENST00000400274.1_Missense_Mutation_p.G150R|DIP2A_ENST00000417564.2_Missense_Mutation_p.G150R|DIP2A_ENST00000457905.3_Missense_Mutation_p.G150R|DIP2A_ENST00000466639.1_Missense_Mutation_p.G150R|DIP2A_ENST00000427143.2_Missense_Mutation_p.G86R	p.G150R	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	631	+	Breast(49;0.0933)		150					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.448G>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786331	0.90367	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.26373	1.88;1.9;1.88;1.88;1.74;1.85;1.88	5.54	5.54	0.83059	.	6.464190	0.00682	N	0.000689	T	0.58235	0.2108	M	0.70595	2.14	0.80722	D	1	D;D;D;P;D;D	0.76494	0.984;0.984;0.999;0.789;0.981;0.999	P;P;P;B;P;D	0.66497	0.573;0.573;0.887;0.203;0.593;0.944	T	0.25502	-1.0130	10	0.45353	T	0.12	-26.9454	18.466	0.90755	0.0:0.0:1.0:0.0	.	150;86;150;150;150;150	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	R	150;86;150;150;150;150;150;150	ENSP00000383133:G150R;ENSP00000400528:G86R;ENSP00000323633:G150R;ENSP00000393434:G150R;ENSP00000430249:G150R;ENSP00000415089:G150R;ENSP00000392066:G150R	ENSP00000323633:G150R	G	+	1	0	DIP2A	46742967	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	7.797000	0.85911	2.601000	0.87937	0.650000	0.86243	GGG		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		14	850	0	0	0	1	0	14	850					A	47918539	G	A	47918539	3	1	79	1	0	0	0	0	1	0	0	0	4543	1116	39	1	466	1	DIP2A	21	47918539	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58476	47918539	211356	20728	31045											
DIP2A	23181	broad.mit.edu	37	chr21	47931370	47931370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagccaaagcctgagggaagCgagacgagtgtgctgagagg	17	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931370C>T	ENST00000417564.2	+	8	966	c.945C>T	c.(943-945)agC>agT	p.S315S	DIP2A_ENST00000318711.7_Silent_p.S316S|DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000427143.2_Silent_p.S251S|DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000457905.3_Silent_p.S315S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	315					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)		CTGAGGGAAGCGAGACGAGTG	0.532																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(946-948)agC>agT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							33	35	34					21																	47931370		1972	4155	6127	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47931370C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.945C>T	21.37:g.47931370C>T						DIP2A_ENST00000435722.3_Silent_p.S315S|DIP2A_ENST00000400274.1_Silent_p.S311S|DIP2A_ENST00000417564.2_Silent_p.S315S|DIP2A_ENST00000457905.3_Silent_p.S315S|DIP2A_ENST00000466639.1_Silent_p.S272S|DIP2A_ENST00000427143.2_Silent_p.S251S	p.S316S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	8	1131	+	Breast(49;0.0933)		315					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.948C>T	CCDS46655.1																																																																																				0.532	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		12	84	0	0	0	1	0	12	84					T	47931370	C	T	47931370	2	4	79	1	0	0	0	0	0	0	0	1	4543	767	27	1		1	DIP2A	21	47931370	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12831	47931370	198525	20729	31046											
DIP2A	23181	broad.mit.edu	37	chr21	47931507	47931507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttggatacaactgggaaagCcgtctacactctcacctatg	8	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931507C>T	ENST00000417564.2	+	8	1103	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	DIP2A_ENST00000318711.7_Missense_Mutation_p.A362V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V|DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	361					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)		ACTGGGAAAGCCGTCTACACT	0.537																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1084-1086)gCc>gTc		DIP2 disco-interacting protein 2 homolog A (Drosophila)							46	46	46					21																	47931507		1987	4174	6161	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47931507C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1082C>T	21.37:g.47931507C>T	ENSP00000392066:p.Ala361Val					DIP2A_ENST00000435722.3_Missense_Mutation_p.A361V|DIP2A_ENST00000400274.1_Missense_Mutation_p.A357V|DIP2A_ENST00000417564.2_Missense_Mutation_p.A361V|DIP2A_ENST00000457905.3_Missense_Mutation_p.A361V|DIP2A_ENST00000466639.1_Missense_Mutation_p.A318V|DIP2A_ENST00000427143.2_Missense_Mutation_p.A297V	p.A362V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	8	1268	+	Breast(49;0.0933)		361					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1085C>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	4.724	0.134557	0.09032	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.34	5.34	0.76211	.	0.147808	0.46145	D	0.000305	T	0.49779	0.1577	L	0.46157	1.445	0.58432	D	0.999991	B;B;D;B;B;B	0.59767	0.003;0.001;0.986;0.302;0.002;0.01	B;B;P;B;B;B	0.52481	0.013;0.026;0.7;0.254;0.015;0.056	T	0.40175	-0.9577	10	0.35671	T	0.21	-18.538	18.0406	0.89318	0.0:1.0:0.0:0.0	.	362;297;318;361;361;361	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	V	357;297;362;318;361;318;361;361	ENSP00000383133:A357V;ENSP00000400528:A297V;ENSP00000323633:A362V;ENSP00000393434:A361V;ENSP00000430249:A318V;ENSP00000415089:A361V;ENSP00000392066:A361V	ENSP00000323633:A362V	A	+	2	0	DIP2A	46755935	1.000000	0.71417	0.997000	0.53966	0.033000	0.12548	5.959000	0.70339	2.505000	0.84491	0.563000	0.77884	GCC		0.537	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		11	108	0	0	0	1	0	11	108					T	47931507	C	T	47931507	3	4	79	1	0	0	0	0	1	0	0	0	4543	739	26	2	1112	2	DIP2A	21	47931507	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137	47931507	198388	20730	31047											
DIP2A	23181	broad.mit.edu	37	chr21	47966834	47966834	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accctttccctcaggacaacCtggtcttcatcgtgggcaaa	8	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47966834C>A	ENST00000417564.2	+	21	2422	c.2401C>A	c.(2401-2403)Ctg>Atg	p.L801M	DIP2A_ENST00000318711.7_Missense_Mutation_p.L802M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	801					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)		TCAGGACAACCTGGTCTTCAT	0.612																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2404-2406)Ctg>Atg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							78	84	82					21																	47966834		2133	4257	6390	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47966834C>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2401C>A	21.37:g.47966834C>A	ENSP00000392066:p.Leu801Met					DIP2A_ENST00000435722.3_Missense_Mutation_p.L801M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L797M|DIP2A_ENST00000417564.2_Missense_Mutation_p.L801M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L801M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L758M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L737M	p.L802M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	21	2587	+	Breast(49;0.0933)		801					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2404C>A	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979798	0.53827	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.41	2.55	0.30701	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000018	T	0.51890	0.1701	L	0.50993	1.605	0.51233	D	0.999918	D;P;D;D;D;B	0.89917	0.972;0.899;1.0;0.996;0.988;0.358	D;P;D;D;P;P	0.91635	0.928;0.53;0.999;0.913;0.856;0.577	T	0.47849	-0.9085	10	0.46703	T	0.11	-14.7334	7.009	0.24851	0.0:0.6354:0.0:0.3645	.	802;737;758;737;801;801	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4	.;.;.;.;DIP2A_HUMAN;.	M	797;737;802;758;801;758;801;801	ENSP00000383133:L797M;ENSP00000400528:L737M;ENSP00000323633:L802M;ENSP00000393434:L801M;ENSP00000430249:L758M;ENSP00000415089:L801M;ENSP00000392066:L801M	ENSP00000323633:L802M	L	+	1	2	DIP2A	46791262	0.400000	0.25295	0.998000	0.56505	0.918000	0.54935	0.823000	0.27366	0.980000	0.38523	0.467000	0.42956	CTG		0.612	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		24	102	1	0	2.41591e-17	1	2.66597e-17	24	102					A	47966834	C	A	47966834	3	1	79	1	0	0	0	0	1	0	0	0	4543	680	24	3	2528	3	DIP2A	21	47966834	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35327	47966834	163061	20731	31048											
POTEH	23784	broad.mit.edu	37	chr22	16287519	16287519	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcatagcagagtcgtcgtGgtctccagaagtgcccacgt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:16287519G>T	ENST00000343518.6	-	1	418	c.367C>A	c.(367-369)Cac>Aac	p.H123N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	123								p.H123D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAGTCGTCGTGGTCTCCAGAA	0.602																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.H123D(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(367-369)Cac>Aac		POTE ankyrin domain family, member H							80	92	88					22																	16287519		2048	3880	5928	SO:0001583	missense	23784							g.chr22:16287519G>T	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.367C>A	22.37:g.16287519G>T	ENSP00000340610:p.His123Asn						p.H123N	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	418	-			123					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.367C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	5.629	0.300766	0.10678	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.26957	1.7	.	.	.	.	.	.	.	.	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	P	0.35328	0.495	B	0.27608	0.081	T	0.16482	-1.0401	7	0.42905	T	0.14	.	.	.	.	.	123	Q6S545	POTEH_HUMAN	N	86;123;123	ENSP00000340610:H123N	ENSP00000340610:H123N	H	-	1	0	POTEH	14667519	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-1.783000	0.01770	0.269000	0.21961	0.274000	0.19336	CAC		0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		240	1009	1	0	2.83873e-70	1	3.60561e-70	240	1009					T	16287519	G	T	16287519	3	4	79	1	0	0	0	0	1	0	0	0	12309	1348	47	3	1310	3	POTEH	22	16287519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		16287519	35017047	20732	31049											
CCT8L2	150160	broad.mit.edu	37	chr22	17073413	17073413	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgccagccgctggggcagctCcagggctgaagggactgtgc	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17073413C>A	ENST00000359963.3	-	1	287	c.28G>T	c.(28-30)Gag>Tag	p.E10*		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	10					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)				TGGGGCAGCTCCAGGGCTGAA	0.642																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(28-30)Gag>Tag		chaperonin containing TCP1, subunit 8 (theta)-like 2							30	35	33					22																	17073413		2203	4299	6502	SO:0001587	stop_gained	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073413C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.28G>T	22.37:g.17073413C>A	ENSP00000353048:p.Glu10*						p.E10*	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	287	-	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)	10					A4QPH3|Q9UJS3	Nonsense_Mutation	SNP	ENST00000359963.3	37	c.28G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	35	5.512440	0.96402	.	.	ENSG00000198445	ENST00000359963	.	.	.	2.0	-0.773	0.10995	.	1.706560	0.04122	U	0.316429	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.0478	7.4887	0.27449	0.0:0.4678:0.5322:0.0	.	.	.	.	X	10	.	ENSP00000353048:E10X	E	-	1	0	CCT8L2	15453413	0.000000	0.05858	0.009000	0.14445	0.625000	0.37756	0.513000	0.22770	-0.264000	0.09365	0.393000	0.25936	GAG		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			55	235	1	0	1.11015e-26	1	1.28132e-26	55	235					A	17073413	C	A	17073413	4	1	79	1	0	0	0	0	0	1	0	0	2970	864	30	3	1649	3	CCT8L2	22	17073413	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	785894	17073413	34231153	20733	31050											
XKR3	150165	broad.mit.edu	37	chr22	17265006	17265006	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caccatattggaattattttCtttgttgccaggaagatgag	9	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17265006C>A	ENST00000331428.5	-	4	985	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAATTATTTTCTTTGTTGCCA	0.423																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(883-885)Gaa>Taa		XK, Kell blood group complex subunit-related family, member 3							16	14	15					22																	17265006		1408	3377	4785	SO:0001587	stop_gained	150165					integral to membrane|plasma membrane		g.chr22:17265006C>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.883G>T	22.37:g.17265006C>A	ENSP00000331704:p.Glu295*						p.E295*	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			4	985	-	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)	295					B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	37	c.883G>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.486806	0.44249	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.771	-0.572	0.11745	.	0.133902	0.47852	U	0.000212	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	5.0931	0.14720	0.0:0.7434:0.0:0.2566	.	.	.	.	X	295	.	ENSP00000331704:E295X	E	-	1	0	XKR3	15645006	0.998000	0.40836	0.001000	0.08648	0.075000	0.17131	4.875000	0.63072	-0.093000	0.12396	0.297000	0.19635	GAA		0.423	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		10	187	1	0	2.98393e-07	1	3.0958e-07	10	187					A	17265006	C	A	17265006	4	1	79	1	0	0	0	0	0	1	0	0	17486	922	32	3	500	3	XKR3	22	17265006	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191593	17265006	34039560	20734	31051											
XKR3	150165	broad.mit.edu	37	chr22	17280674	17280674	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttacctctattcaaaggCcattctcgtatagtgagact	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17280674C>T	ENST00000331428.5	-	3	678	c.576G>A	c.(574-576)tgG>tgA	p.W192*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TATTCAAAGGCCATTCTCGTA	0.348																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(574-576)tgG>tgA		XK, Kell blood group complex subunit-related family, member 3							154	146	148					22																	17280674		1857	4098	5955	SO:0001587	stop_gained	150165					integral to membrane|plasma membrane		g.chr22:17280674C>T	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.576G>A	22.37:g.17280674C>T	ENSP00000331704:p.Trp192*						p.W192*	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			3	678	-	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)	192					B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	37	c.576G>A	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271058	0.40194	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.762	0.762	0.18454	.	1.328570	0.06032	U	0.653304	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	3.9778	0.09481	0.4122:0.5877:0.0:0.0	.	.	.	.	X	192	.	ENSP00000331704:W192X	W	-	3	0	XKR3	15660674	0.155000	0.22806	0.040000	0.18447	0.013000	0.08279	-0.245000	0.08890	0.752000	0.32923	0.289000	0.19496	TGG		0.348	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		102	589	0	0	0	1	0	102	589					T	17280674	C	T	17280674	4	4	79	1	0	0	0	0	0	1	0	0	17486	740	26	2	811	2	XKR3	22	17280674	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15668	17280674	34023892	20735	31052											
XKR3	150165	broad.mit.edu	37	chr22	17288713	17288713	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttgaaaaacatcaggAtaatttgatccaaaattgcc	6	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17288713A>G	ENST00000331428.5	-	2	353	c.251T>C	c.(250-252)aTc>aCc	p.I84T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAACATCAGGATAATTTGATC	0.338																																						ENST00000331428.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(250-252)aTc>aCc		XK, Kell blood group complex subunit-related family, member 3							88	82	84					22																	17288713		1832	4081	5913	SO:0001583	missense	150165					integral to membrane|plasma membrane		g.chr22:17288713A>G	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.251T>C	22.37:g.17288713A>G	ENSP00000331704:p.Ile84Thr						p.I84T	NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN			2	353	-	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)	84					B2RPN1|Q52PG8|Q8N7E1	Missense_Mutation	SNP	ENST00000331428.5	37	c.251T>C	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.902450	0.00058	.	.	ENSG00000172967	ENST00000331428	T	0.61274	0.12	0.539	-1.08	0.09936	.	0.225560	0.35646	U	0.003072	T	0.15046	0.0363	N	0.00313	-1.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32079	-0.9920	10	0.13108	T	0.6	.	4.5592	0.12152	0.4621:0.0:0.5379:0.0	.	84	Q5GH77	XKR3_HUMAN	T	84	ENSP00000331704:I84T	ENSP00000331704:I84T	I	-	2	0	XKR3	15668713	0.919000	0.31177	0.010000	0.14722	0.048000	0.14542	0.251000	0.18257	-0.642000	0.05480	-0.779000	0.03376	ATC		0.338	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		84	298	0	0	0	1	0	84	298					G	17288713	A	G	17288713	3	3	79	1	0	0	0	0	1	0	0	0	17486	333	12	4	1140	4	XKR3	22	17288713	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8039	17288713	34015853	20736	31053											
GAB4	128954	broad.mit.edu	37	chr22	17447087	17447087	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctctgtgagtggggaGccaagcaggtcaaagcgaac	15	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17447087G>A	ENST00000400588.1	-	6	1298	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	397										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)				TGAGTGGGGAGCCAAGCAGGT	0.592																																						ENST00000400588.1																			0				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						c.(1189-1191)ggC>ggT		GRB2-associated binding protein family, member 4							74	82	80					22																	17447087		2039	4215	6254	SO:0001819	synonymous_variant	128954							g.chr22:17447087G>A	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.1191C>T	22.37:g.17447087G>A							p.G397G	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			6	1298	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	397						Silent	SNP	ENST00000400588.1	37	c.1191C>T	CCDS42976.1																																																																																				0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		79	324	0	0	0	1	0	79	324					A	17447087	G	A	17447087	2	1	79	1	0	0	0	0	0	0	0	1	6178	958	34	2		2	GAB4	22	17447087	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	158374	17447087	33857479	20737	31054											
GAB4	128954	broad.mit.edu	37	chr22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggttcaggttgatggtgCgcaggggcttcttggagcca	17	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.R92P(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)				GTTGATGGTGCGCAGGGGCTT	0.502																																						ENST00000400588.1																			1	Substitution - Missense(1)	p.R92P(1)	kidney(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						c.(274-276)cGc>cAc		GRB2-associated binding protein family, member 4							211	222	218					22																	17472966		2195	4300	6495	SO:0001583	missense	128954							g.chr22:17472966C>T	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.275G>A	22.37:g.17472966C>T	ENSP00000383431:p.Arg92His					GAB4_ENST00000523144.1_5'UTR	p.R92H	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			2	382	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	92			PH.			Missense_Mutation	SNP	ENST00000400588.1	37	c.275G>A	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC		0.502	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		216	985	0	0	0	1	0	216	985					T	17472966	C	T	17472966	3	4	79	1	0	0	0	0	1	0	0	0	6178	768	27	1	1485	1	GAB4	22	17472966	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25879	17472966	33831600	20738	31055											
GAB4	128954	broad.mit.edu	37	chr22	17488858	17488858	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcttcttctcggggggCgacttcctcagccagccgct	11	16	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17488858C>T	ENST00000400588.1	-	1	254	c.147G>A	c.(145-147)tcG>tcA	p.S49S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	49	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGGGGGGCGACTTCCTCA	0.687																																						ENST00000400588.1																			0				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						c.(145-147)tcG>tcA		GRB2-associated binding protein family, member 4							16	21	19					22																	17488858		2097	4237	6334	SO:0001819	synonymous_variant	128954							g.chr22:17488858C>T	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.147G>A	22.37:g.17488858C>T						GAB4_ENST00000523144.1_5'UTR	p.S49S	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			1	254	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	49			PH.			Silent	SNP	ENST00000400588.1	37	c.147G>A	CCDS42976.1																																																																																				0.687	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		24	103	0	0	0	1	0	24	103					T	17488858	C	T	17488858	2	4	79	1	0	0	0	0	0	0	0	1	6178	755	27	1		1	GAB4	22	17488858	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15892	17488858	33815708	20739	31056											
IL17RA	23765	broad.mit.edu	37	chr22	17586821	17586821	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtcatcctgctcatcgTctgcatgacctggaggctag	10	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17586821T>C	ENST00000319363.6	+	11	1155	c.1022T>C	c.(1021-1023)gTc>gCc	p.V341A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	341					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)		CTGCTCATCGTCTGCATGACC	0.587																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1021-1023)gTc>gCc		interleukin 17 receptor A							94	73	80					22																	17586821		2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586821T>C	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.1022T>C	22.37:g.17586821T>C	ENSP00000320936:p.Val341Ala						p.V341A	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	11	1155	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	341					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1022T>C	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.818552	0.32145	.	.	ENSG00000177663	ENST00000319363	T	0.06528	3.29	5.21	5.21	0.72293	.	1.277380	0.05326	N	0.527439	T	0.11793	0.0287	M	0.64997	1.995	0.23978	N	0.996285	B	0.34015	0.435	B	0.30401	0.115	T	0.36311	-0.9753	10	0.59425	D	0.04	-5.4492	12.8275	0.57728	0.0:0.0:0.0:1.0	.	341	Q96F46	I17RA_HUMAN	A	341	ENSP00000320936:V341A	ENSP00000320936:V341A	V	+	2	0	IL17RA	15966821	0.986000	0.35501	0.842000	0.33263	0.137000	0.21094	3.177000	0.50871	1.971000	0.57363	0.459000	0.35465	GTC		0.587	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		20	166	0	0	0	1	0	20	166					C	17586821	T	C	17586821	3	2	79	1	0	0	0	0	1	0	0	0	7669	1667	58	4	1064	4	IL17RA	22	17586821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97963	17586821	33717745	20740	31057											
IL17RA	23765	broad.mit.edu	37	chr22	17590366	17590366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacctcgaaggcttgatgCtctcgctcttcgagcagagt	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17590366C>T	ENST00000319363.6	+	13	2390	c.2257C>T	c.(2257-2259)Ctc>Ttc	p.L753F		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	753					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)		AGGCTTGATGCTCTCGCTCTT	0.662																																						ENST00000319363.6																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(2257-2259)Ctc>Ttc		interleukin 17 receptor A							24	23	23					22																	17590366		2202	4299	6501	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17590366C>T	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.2257C>T	22.37:g.17590366C>T	ENSP00000320936:p.Leu753Phe						p.L753F	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	13	2390	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	753					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.2257C>T	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	C	6.369	0.436184	0.12104	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	T	0.06294	3.32	4.48	-8.95	0.00765	.	1.479250	0.04012	N	0.298422	T	0.02047	0.0064	N	0.03608	-0.345	0.21897	N	0.999484	B;B	0.12630	0.002;0.006	B;B	0.08055	0.003;0.003	T	0.41574	-0.9501	10	0.02654	T	1	-2.7623	8.0081	0.30336	0.0:0.2511:0.2848:0.4641	.	701;753	D3YTB4;Q96F46	.;I17RA_HUMAN	F	701;753	ENSP00000320936:L753F	ENSP00000320936:L753F	L	+	1	0	IL17RA	15970366	0.700000	0.27796	0.009000	0.14445	0.239000	0.25481	-0.054000	0.11826	-1.855000	0.01162	-0.304000	0.09214	CTC		0.662	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339		31	95	0	0	0	1	0	31	95					T	17590366	C	T	17590366	3	4	79	1	0	0	0	0	1	0	0	0	7669	797	28	2	2307	2	IL17RA	22	17590366	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3545	17590366	33714200	20741	31058											
CECR6	27439	broad.mit.edu	37	chr22	17601069	17601069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggagtagataagccaggCcaggtaggcgaaggcgaact	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17601069C>T	ENST00000331437.3	-	1	1074	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	AC006946.15_ENST00000441544.1_5'Flank|CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	317	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATAAGCCAGGCCAGGTAGGCG	0.731																																						ENST00000331437.3																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(949-951)Gcc>Acc		cat eye syndrome chromosome region, candidate 6							59	49	52					22																	17601069		2203	4295	6498	SO:0001583	missense	27439							g.chr22:17601069C>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.949G>A	22.37:g.17601069C>T	ENSP00000329318:p.Ala317Thr					CECR6_ENST00000399875.1_Intron	p.A317T	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	1074	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	317			Ala-rich.		A8MYY1	Missense_Mutation	SNP	ENST00000331437.3	37	c.949G>A	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	c	17.33	3.363564	0.61513	.	.	ENSG00000183307	ENST00000331437	.	.	.	3.51	3.51	0.40186	.	0.000000	0.64402	U	0.000013	T	0.64670	0.2619	L	0.32530	0.975	0.49299	D	0.999779	D	0.76494	0.999	D	0.74023	0.982	T	0.68307	-0.5443	9	0.59425	D	0.04	.	13.9866	0.64339	0.0:1.0:0.0:0.0	.	317	Q9BXQ6	CECR6_HUMAN	T	317	.	ENSP00000329318:A317T	A	-	1	0	CECR6	15981069	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.099000	0.64554	1.690000	0.51089	0.450000	0.29827	GCC		0.731	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		84	314	0	0	0	1	0	84	314					T	17601069	C	T	17601069	3	4	79	1	0	0	0	0	1	0	0	0	3217	739	26	2	791	2	CECR6	22	17601069	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10703	17601069	33703497	20742	31059											
CECR5	27440	broad.mit.edu	37	chr22	17619225	17619225	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacaggttggcgccgtAtacgtcagacatagggttat	14	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17619225A>G	ENST00000336737.4	-	8	983	c.958T>C	c.(958-960)Tac>Cac	p.Y320H	CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H|CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	320						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)				TTGGCGCCGTATACGTCAGAC	0.557																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(958-960)Tac>Cac		cat eye syndrome chromosome region, candidate 5							46	45	45					22																	17619225		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619225A>G	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.958T>C	22.37:g.17619225A>G	ENSP00000337358:p.Tyr320His					CECR5_ENST00000399852.3_Missense_Mutation_p.Y120H|CECR5_ENST00000155674.5_Missense_Mutation_p.Y290H	p.Y320H	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			8	983	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	320					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.958T>C	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.995841	0.54147	.	.	ENSG00000069998	ENST00000155674;ENST00000336737;ENST00000399852	T;T;T	0.23147	1.92;1.92;1.92	4.47	4.47	0.54385	HAD-like domain (2);	0.058061	0.64402	D	0.000001	T	0.51295	0.1666	M	0.84846	2.72	0.47214	D	0.999357	D;D;D;D	0.89917	0.96;1.0;1.0;1.0	P;D;D;D	0.80764	0.879;0.994;0.968;0.992	T	0.54337	-0.8309	10	0.17369	T	0.5	-9.4427	13.9375	0.64034	1.0:0.0:0.0:0.0	.	290;120;320;184	Q9BXW7-2;A8MYZ9;Q9BXW7;B3KVW8	.;.;CECR5_HUMAN;.	H	290;320;120	ENSP00000155674:Y290H;ENSP00000337358:Y320H;ENSP00000382745:Y120H	ENSP00000155674:Y290H	Y	-	1	0	CECR5	15999225	1.000000	0.71417	0.972000	0.41901	0.005000	0.04900	8.591000	0.90824	1.880000	0.54463	0.459000	0.35465	TAC		0.557	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		52	264	0	0	0	1	0	52	264					G	17619225	A	G	17619225	3	3	79	1	0	0	0	0	1	0	0	0	3216	449	16	4	317	4	CECR5	22	17619225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	18156	17619225	33685341	20743	31060											
CECR1	51816	broad.mit.edu	37	chr22	17663567	17663567	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgactgcggggtgtttgCtcaaagcaaatccatggccg	12	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17663567C>T	ENST00000399839.1	-	8	1436	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N|CECR1_ENST00000330232.4_Missense_Mutation_p.S148N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	389					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGGTGTTTGCTCAAAGCAAA	0.498																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1165-1167)aGc>aAc		cat eye syndrome chromosome region, candidate 1							172	154	160					22																	17663567		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17663567C>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1166G>A	22.37:g.17663567C>T	ENSP00000382733:p.Ser389Asn					CECR1_ENST00000330232.4_Missense_Mutation_p.S148N|CECR1_ENST00000449907.2_Missense_Mutation_p.S347N|CECR1_ENST00000399837.2_Missense_Mutation_p.S389N|CECR1_ENST00000262607.3_Missense_Mutation_p.S389N	p.S389N			Q9NZK5	CECR1_HUMAN			8	1436	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	389					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1166G>A	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	1.001	-0.691072	0.03303	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	3.97	-6.59	0.01830	Adenosine/AMP deaminase (1);	0.583494	0.19011	N	0.125077	D	0.88793	0.6533	M	0.61703	1.905	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.002;0.003	T	0.74520	-0.3638	10	0.28530	T	0.3	.	6.1549	0.20332	0.3327:0.1248:0.4714:0.0711	.	389;148	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	389;148;389;347;389	ENSP00000382733:S389N;ENSP00000332871:S148N;ENSP00000262607:S389N;ENSP00000406443:S347N;ENSP00000382731:S389N	ENSP00000262607:S389N	S	-	2	0	CECR1	16043567	0.000000	0.05858	0.073000	0.20177	0.072000	0.16883	-1.682000	0.01935	-1.386000	0.02098	-0.424000	0.05967	AGC		0.498	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			112	351	0	0	0	1	0	112	351					T	17663567	C	T	17663567	3	4	79	1	0	0	0	0	1	0	0	0	3214	797	28	2	381	2	CECR1	22	17663567	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44342	17663567	33640999	20744	31061											
CECR2	27443	broad.mit.edu	37	chr22	18003201	18003201	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagaggaggaagaagagCgtcagattcttctagcagtg	14	6	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	ENST00000400585.2	+	9	961	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	CECR2_ENST00000342247.5_Missense_Mutation_p.R268C|CECR2_ENST00000400573.5_Missense_Mutation_p.R316C|CECR2_ENST00000262608.8_Missense_Mutation_p.R297C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	338					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)		GGAAGAAGAGCGTCAGATTCT	0.493																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(889-891)Cgt>Tgt		cat eye syndrome chromosome region, candidate 2							70	73	72					22																	18003201		2058	4201	6259	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18003201C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.523C>T	22.37:g.18003201C>T	ENSP00000383428:p.Arg175Cys					CECR2_ENST00000342247.5_Missense_Mutation_p.R268C|CECR2_ENST00000400585.2_Missense_Mutation_p.R175C|CECR2_ENST00000400573.4_Missense_Mutation_p.R316C	p.R297C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	8	889	+		all_epithelial(15;0.139)	338					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.889C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008830	0.75046	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.44083	0.93;1.55;1.56;1.17	5.84	5.84	0.93424	.	0.000000	0.51477	D	0.000097	T	0.62073	0.2398	M	0.64997	1.995	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.996;0.997;0.996	T	0.63274	-0.6674	10	0.87932	D	0	-22.3781	14.5723	0.68220	0.1463:0.8537:0.0:0.0	.	338;175;310;316	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	C	268;175;316;297	ENSP00000341219:R268C;ENSP00000383428:R175C;ENSP00000383417:R316C;ENSP00000262608:R297C	ENSP00000262608:R297C	R	+	1	0	CECR2	16383201	0.920000	0.31207	0.762000	0.31397	0.862000	0.49288	1.218000	0.32467	2.764000	0.94973	0.650000	0.86243	CGT		0.493	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	48	0	0	0	1	0	12	48					T	18003201	C	T	18003201	3	4	79	1	0	0	0	0	1	0	0	0	3215	768	27	1	918	1	CECR2	22	18003201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	339634	18003201	33301365	20745	31062											
CECR2	27443	broad.mit.edu	37	chr22	18021876	18021876	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaattaacagcctccgaggaCccaggctaggcacaccagag	11	13	0	1	rs200166225	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	ENST00000400585.2	+	16	1993	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	CECR2_ENST00000400573.5_Missense_Mutation_p.P660T|CECR2_ENST00000262608.8_Missense_Mutation_p.P661T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	702	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)		CCTCCGAGGACCCAGGCTAGG	0.537													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18982	0.0		0.0	False		,,,				2504	0.0					ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1981-1983)Ccc>Acc		cat eye syndrome chromosome region, candidate 2		C	THR/PRO	20,3952		0,20,1966	34	34	34		1978	4.2	0.9	22		34	1,8319		0,1,4159	yes	missense	CECR2	NM_031413.3	38	0,21,6125	AA,AC,CC		0.012,0.5035,0.1708	benign	660/1443	18021876	21,12271	1986	4160	6146	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18021876C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1555C>A	22.37:g.18021876C>A	ENSP00000383428:p.Pro519Thr					CECR2_ENST00000400585.2_Missense_Mutation_p.P519T|CECR2_ENST00000400573.4_Missense_Mutation_p.P660T	p.P661T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	1981	+		all_epithelial(15;0.139)	702					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.1981C>A		.	.	.	.	.	.	.	.	.	.	C	10.40	1.338446	0.24253	0.005035	1.2E-4	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.25085	1.94;1.94;1.82	5.21	4.19	0.49359	.	0.247728	0.28706	N	0.014409	T	0.19765	0.0475	L	0.56769	1.78	0.33570	D	0.598544	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.26189	-1.0110	10	0.45353	T	0.12	-11.8315	13.0016	0.58679	0.0:0.9212:0.0:0.0788	.	702;519;660	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	519;660;661	ENSP00000383428:P519T;ENSP00000383417:P660T;ENSP00000262608:P661T	ENSP00000262608:P661T	P	+	1	0	CECR2	16401876	0.981000	0.34729	0.915000	0.36163	0.467000	0.32768	1.946000	0.40283	1.408000	0.46895	0.655000	0.94253	CCC		0.537	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	76	1	0	7.03913e-09	1	7.37812e-09	12	76					A	18021876	C	A	18021876	3	1	79	1	0	0	0	0	1	0	0	0	3215	507	18	3	2038	3	CECR2	22	18021876	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18675	18021876	33282690	20746	31063											
CECR2	27443	broad.mit.edu	37	chr22	18022006	18022006	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaggatggaagcatgtatgCtccagctcagttccagccag	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	ENST00000400585.2	+	16	2123	c.1685C>T	c.(1684-1686)gCt>gTt	p.A562V	CECR2_ENST00000400573.5_Missense_Mutation_p.A703V|CECR2_ENST00000262608.8_Missense_Mutation_p.A704V			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	745					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)		AGCATGTATGCTCCAGCTCAG	0.582																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2110-2112)gCt>gTt		cat eye syndrome chromosome region, candidate 2							24	26	25					22																	18022006		1954	4148	6102	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022006C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1685C>T	22.37:g.18022006C>T	ENSP00000383428:p.Ala562Val					CECR2_ENST00000400585.2_Missense_Mutation_p.A562V|CECR2_ENST00000400573.4_Missense_Mutation_p.A703V	p.A704V	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2111	+		all_epithelial(15;0.139)	745					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2111C>T		.	.	.	.	.	.	.	.	.	.	C	10.07	1.249044	0.22880	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.88;1.87;1.75	5.43	4.39	0.52855	.	0.517672	0.17787	N	0.162033	T	0.21267	0.0512	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23937	0.094;0.094;0.094	B;B;B	0.23852	0.049;0.031;0.031	T	0.23368	-1.0190	10	0.72032	D	0.01	-0.7584	16.1858	0.81950	0.0:0.8667:0.1333:0.0	.	745;562;703	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	V	562;703;704	ENSP00000383428:A562V;ENSP00000383417:A703V;ENSP00000262608:A704V	ENSP00000262608:A704V	A	+	2	0	CECR2	16402006	0.194000	0.23325	0.026000	0.17262	0.040000	0.13550	3.616000	0.54174	1.487000	0.48415	0.655000	0.94253	GCT		0.582	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		22	98	0	0	0	1	0	22	98					T	18022006	C	T	18022006	3	4	79	1	0	0	0	0	1	0	0	0	3215	797	28	2	2168	2	CECR2	22	18022006	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	130	18022006	33282560	20747	31064											
CECR2	27443	broad.mit.edu	37	chr22	18022140	18022140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtacctgaatcgagtaCactctgccgtctggaatggg	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	ENST00000400585.2	+	16	2257	c.1819C>T	c.(1819-1821)Cac>Tac	p.H607Y	CECR2_ENST00000400573.5_Missense_Mutation_p.H748Y|CECR2_ENST00000262608.8_Missense_Mutation_p.H749Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	790					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)		GAATCGAGTACACTCTGCCGT	0.592																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2245-2247)Cac>Tac		cat eye syndrome chromosome region, candidate 2							38	41	40					22																	18022140		1941	4135	6076	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022140C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1819C>T	22.37:g.18022140C>T	ENSP00000383428:p.His607Tyr					CECR2_ENST00000400585.2_Missense_Mutation_p.H607Y|CECR2_ENST00000400573.4_Missense_Mutation_p.H748Y	p.H749Y	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2245	+		all_epithelial(15;0.139)	790					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2245C>T		.	.	.	.	.	.	.	.	.	.	C	16.69	3.191860	0.58017	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.28454	1.73;1.72;1.61	5.29	5.29	0.74685	.	0.219710	0.31847	N	0.006966	T	0.33323	0.0859	M	0.62723	1.935	0.41284	D	0.986931	P;P;P	0.46395	0.877;0.8;0.8	B;B;B	0.37943	0.261;0.261;0.261	T	0.36841	-0.9731	10	0.87932	D	0	-16.3606	17.289	0.87150	0.0:1.0:0.0:0.0	.	790;607;748	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	607;748;749	ENSP00000383428:H607Y;ENSP00000383417:H748Y;ENSP00000262608:H749Y	ENSP00000262608:H749Y	H	+	1	0	CECR2	16402140	0.957000	0.32711	0.998000	0.56505	0.908000	0.53690	2.757000	0.47557	2.756000	0.94617	0.561000	0.74099	CAC		0.592	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		45	189	0	0	0	1	0	45	189					T	18022140	C	T	18022140	3	4	79	1	0	0	0	0	1	0	0	0	3215	478	17	2	2302	2	CECR2	22	18022140	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	134	18022140	33282426	20748	31065											
CECR2	27443	broad.mit.edu	37	chr22	18022171	18022171	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatgggaaccatggtgCtacgaaccaaggacccttgg	13	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	ENST00000400585.2	+	16	2288	c.1850C>A	c.(1849-1851)gCt>gAt	p.A617D	CECR2_ENST00000400573.5_Missense_Mutation_p.A758D|CECR2_ENST00000262608.8_Missense_Mutation_p.A759D			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	800					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)		AACCATGGTGCTACGAACCAA	0.557																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2275-2277)gCt>gAt		cat eye syndrome chromosome region, candidate 2							41	46	44					22																	18022171		1965	4144	6109	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022171C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1850C>A	22.37:g.18022171C>A	ENSP00000383428:p.Ala617Asp					CECR2_ENST00000400585.2_Missense_Mutation_p.A617D|CECR2_ENST00000400573.4_Missense_Mutation_p.A758D	p.A759D	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2276	+		all_epithelial(15;0.139)	800					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2276C>A		.	.	.	.	.	.	.	.	.	.	C	16.00	2.997072	0.54147	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.27720	1.77;1.76;1.65	5.29	4.25	0.50352	.	0.627641	0.14414	N	0.321059	T	0.33294	0.0858	L	0.56769	1.78	0.33771	D	0.622995	P;P;P	0.42409	0.779;0.664;0.664	B;B;B	0.39299	0.296;0.296;0.296	T	0.52442	-0.8575	10	0.52906	T	0.07	-8.8794	14.2317	0.65898	0.0:0.851:0.149:0.0	.	800;617;758	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	D	617;758;759	ENSP00000383428:A617D;ENSP00000383417:A758D;ENSP00000262608:A759D	ENSP00000262608:A759D	A	+	2	0	CECR2	16402171	0.217000	0.23597	0.992000	0.48379	0.859000	0.49053	0.696000	0.25541	1.428000	0.47296	0.561000	0.74099	GCT		0.557	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		32	209	1	0	2.61193e-14	1	2.83483e-14	32	209					A	18022171	C	A	18022171	3	1	79	1	0	0	0	0	1	0	0	0	3215	797	28	3	2333	3	CECR2	22	18022171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31	18022171	33282395	20749	31066											
CECR2	27443	broad.mit.edu	37	chr22	18022369	18022369	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgcgaccgccctgcaagtCtgccggacatcggttacagc	11	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	ENST00000400585.2	+	16	2486	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	CECR2_ENST00000400573.5_Missense_Mutation_p.S824Y|CECR2_ENST00000262608.8_Missense_Mutation_p.S825Y			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	866					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)		CCCTGCAAGTCTGCCGGACAT	0.602																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2473-2475)tCt>tAt		cat eye syndrome chromosome region, candidate 2							61	66	64					22																	18022369		2075	4211	6286	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022369C>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2048C>A	22.37:g.18022369C>A	ENSP00000383428:p.Ser683Tyr					CECR2_ENST00000400585.2_Missense_Mutation_p.S683Y|CECR2_ENST00000400573.4_Missense_Mutation_p.S824Y	p.S825Y	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2474	+		all_epithelial(15;0.139)	866					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.2474C>A		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555683	0.65425	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32753	1.56;1.54;1.44	5.29	5.29	0.74685	.	0.393815	0.21845	N	0.068264	T	0.46288	0.1385	L	0.60455	1.87	0.30810	N	0.738989	D;D;D	0.61080	0.976;0.989;0.976	P;P;P	0.57283	0.726;0.817;0.726	T	0.51601	-0.8685	10	0.87932	D	0	-8.3622	13.8455	0.63466	0.0:0.8475:0.1525:0.0	.	866;683;824	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	Y	683;824;825	ENSP00000383428:S683Y;ENSP00000383417:S824Y;ENSP00000262608:S825Y	ENSP00000262608:S825Y	S	+	2	0	CECR2	16402369	0.172000	0.23043	0.790000	0.31976	0.879000	0.50718	2.245000	0.43133	2.756000	0.94617	0.561000	0.74099	TCT		0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		16	369	1	0	1.15088e-07	1	1.19614e-07	16	369					A	18022369	C	A	18022369	3	1	79	1	0	0	0	0	1	0	0	0	3215	913	32	3	2531	3	CECR2	22	18022369	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	198	18022369	33282197	20750	31067											
CECR2	27443	broad.mit.edu	37	chr22	18028909	18028909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctaccaagcggcagagctCgttgtcagccagcgagtatc	12	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	ENST00000400585.2	+	17	3878	c.3440C>T	c.(3439-3441)tCg>tTg	p.S1147L	CECR2_ENST00000400573.5_Missense_Mutation_p.S1289L|CECR2_ENST00000262608.8_Missense_Mutation_p.S1290L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1331					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)		CGGCAGAGCTCGTTGTCAGCC	0.512																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(3868-3870)tCg>tTg		cat eye syndrome chromosome region, candidate 2							83	87	85					22																	18028909		1946	4144	6090	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028909C>T	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3440C>T	22.37:g.18028909C>T	ENSP00000383428:p.Ser1147Leu					CECR2_ENST00000400585.2_Missense_Mutation_p.S1147L|CECR2_ENST00000400573.4_Missense_Mutation_p.S1289L	p.S1290L	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3869	+		all_epithelial(15;0.139)	1331					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.3869C>T		.	.	.	.	.	.	.	.	.	.	C	6.746	0.506528	0.12883	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.32515	1.58;1.57;1.45	4.68	2.42	0.29668	.	0.371246	0.19324	N	0.117047	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999999	P;P;P	0.48998	0.918;0.918;0.918	B;B;B	0.33799	0.17;0.17;0.17	T	0.26503	-1.0101	10	0.72032	D	0.01	-8.035	9.019	0.36188	0.0:0.7703:0.1468:0.0829	.	1331;1147;1289	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	L	1147;1289;1290	ENSP00000383428:S1147L;ENSP00000383417:S1289L;ENSP00000262608:S1290L	ENSP00000262608:S1290L	S	+	2	0	CECR2	16408909	0.011000	0.17503	0.010000	0.14722	0.003000	0.03518	2.305000	0.43664	1.105000	0.41606	-0.266000	0.10368	TCG		0.512	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		105	428	0	0	0	1	0	105	428					T	18028909	C	T	18028909	3	4	79	1	0	0	0	0	1	0	0	0	3215	893	31	1	3930	1	CECR2	22	18028909	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6540	18028909	33275657	20751	31068											
CECR2	27443	broad.mit.edu	37	chr22	18031740	18031740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcacccggtccagtcGcaggcctcgttcccaaagac	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	ENST00000400585.2	+	18	4248	c.3810G>A	c.(3808-3810)tcG>tcA	p.S1270S	CECR2_ENST00000400573.5_Silent_p.S1412S|CECR2_ENST00000262608.8_Silent_p.S1413S			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1454					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)		CGGTCCAGTCGCAGGCCTCGT	0.507																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(4237-4239)tcG>tcA		cat eye syndrome chromosome region, candidate 2							69	73	72					22																	18031740		2080	4208	6288	SO:0001819	synonymous_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18031740G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3810G>A	22.37:g.18031740G>A						CECR2_ENST00000400585.2_Silent_p.S1270S|CECR2_ENST00000400573.4_Silent_p.S1412S	p.S1413S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	17	4239	+		all_epithelial(15;0.139)	1454					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37	c.4239G>A																																																																																					0.507	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		57	318	0	0	0	1	0	57	318					A	18031740	G	A	18031740	2	1	79	1	0	0	0	0	0	0	0	1	3215	1074	38	1		1	CECR2	22	18031740	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2831	18031740	33272826	20752	31069											
BCL2L13	23786	broad.mit.edu	37	chr22	18171769	18171769	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagccttcaccagcacaggcTttgaccgtcacacttctcca	6	17	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18171769T>G	ENST00000317582.5	+	4	594	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V	BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000355028.3_Missense_Mutation_p.F83V|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	83					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CAGCACAGGCTTTGACCGTCA	0.443																																						ENST00000355028.3																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15						c.(247-249)Ttt>Gtt		BCL2-like 13 (apoptosis facilitator)							91	88	89					22																	18171769		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18171769T>G	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.247T>G	22.37:g.18171769T>G	ENSP00000318883:p.Phe83Val					BCL2L13_ENST00000399782.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000493680.1_Missense_Mutation_p.F83V|BCL2L13_ENST00000543133.1_Intron|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000317582.5_Missense_Mutation_p.F83V	p.F83V	NM_001270733.1|NM_001270734.1	NP_001257662.1|NP_001257663.1	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	4	373	+		all_epithelial(15;0.123)	83					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.247T>G	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515006	0.85389	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028	T;T;T;T	0.04083	3.71;3.71;3.71;3.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.83275	0.937;0.996;0.937	T	0.01617	-1.1311	10	0.62326	D	0.03	-18.3954	15.7532	0.78005	0.0:0.0:0.0:1.0	.	83;83;83	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	V	83	ENSP00000382682:F83V;ENSP00000318883:F83V;ENSP00000434764:F83V;ENSP00000347133:F83V	ENSP00000318883:F83V	F	+	1	0	BCL2L13	16551769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.200000	0.77838	2.117000	0.64856	0.460000	0.39030	TTT		0.443	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367		104	419	0	0	0	1	0	104	419					G	18171769	T	G	18171769	3	3	79	1	0	0	0	0	1	0	0	0	1372	1609	56	4	257	4	BCL2L13	22	18171769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140029	18171769	33132797	20753	31070											
MICAL3	57553	broad.mit.edu	37	chr22	18273538	18273538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttggacagcatggcaGcctccaggtccttgtcctcc	10	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18273538G>A	ENST00000441493.2	-	32	6321	c.5969C>T	c.(5968-5970)gCt>gTt	p.A1990V	MICAL3_ENST00000580469.1_5'Flank|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1990					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)		CAGCATGGCAGCCTCCAGGTC	0.607																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(5968-5970)gCt>gTt		microtubule associated monooxygenase, calponin and LIM domain containing 3							35	39	38					22																	18273538		2088	4214	6302	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18273538G>A	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.5969C>T	22.37:g.18273538G>A	ENSP00000416015:p.Ala1990Val					XXbac-B461K10.4_ENST00000476405.1_RNA	p.A1990V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	32	6321	-		all_epithelial(15;0.198)	1990					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.5969C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271560	0.80469	.	.	ENSG00000093100	ENST00000441493	T	0.66099	-0.19	5.0	3.98	0.46160	.	0.281639	0.31566	N	0.007430	T	0.73210	0.3558	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.73990	-0.3808	10	0.59425	D	0.04	.	8.843	0.35153	0.0764:0.0:0.7759:0.1478	.	1990	Q7RTP6	MICA3_HUMAN	V	1990	ENSP00000416015:A1990V	ENSP00000416015:A1990V	A	-	2	0	XXbac-B461K10.4	16653538	1.000000	0.71417	0.982000	0.44146	0.968000	0.65278	5.543000	0.67225	1.242000	0.43836	-0.291000	0.09656	GCT		0.607	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			4	85	0	0	0	1	0	4	85					A	18273538	G	A	18273538	3	1	79	1	0	0	0	0	1	0	0	0	9612	971	34	2	43	2	MICAL3	22	18273538	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	101769	18273538	33031028	20754	31071											
MICAL3	57553	broad.mit.edu	37	chr22	18301163	18301163	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggccagagctgctggacaGctccctgcgctcctcctggg	13	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18301163G>T	ENST00000441493.2	-	26	4616	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1422	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)		CTGCTGGACAGCTCCCTGCGC	0.682																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4264-4266)Ctg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 3							29	35	33					22																	18301163		2011	4164	6175	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301163G>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4264C>A	22.37:g.18301163G>T	ENSP00000416015:p.Leu1422Met						p.L1422M	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4616	-		all_epithelial(15;0.198)	1422			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.4264C>A	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.85|14.85	2.657804|2.657804	0.47467|0.47467	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.70282|.	-0.47|.	4.42|4.42	3.15|3.15	0.36227|0.36227	.|.	.|.	.|.	.|.	.|.	T|T	0.50735|0.50735	0.1633|0.1633	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P|.	0.48911|.	0.917|.	P|.	0.46659|.	0.523|.	T|T	0.53265|0.53265	-0.8463|-0.8463	9|5	0.49607|.	T|.	0.09|.	.|.	2.3109|2.3109	0.04186|0.04186	0.1661:0.1829:0.4897:0.1613|0.1661:0.1829:0.4897:0.1613	.|.	1422|.	Q7RTP6|.	MICA3_HUMAN|.	M|R	1422|403	ENSP00000416015:L1422M|.	ENSP00000416015:L1422M|.	L|S	-|-	1|3	2|2	XXbac-B461K10.4|XXbac-B461K10.4	16681163|16681163	0.779000|0.779000	0.28652|0.28652	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	0.914000|0.914000	0.28624|0.28624	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	CTG|AGC		0.682	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			105	330	1	0	7.47877e-49	1	9.23912e-49	105	330					T	18301163	G	T	18301163	3	4	79	1	0	0	0	0	1	0	0	0	9612	962	34	3	1772	3	MICAL3	22	18301163	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27625	18301163	33003403	20755	31072											
MICAL3	57553	broad.mit.edu	37	chr22	18347481	18347481	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcaccagcacctccgacaggCcatagagaaaggggactccg	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18347481C>A	ENST00000441493.2	-	19	2958				MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000429452.1_Missense_Mutation_p.G1054V|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)		CTCCGACAGGCCATAGAGAAA	0.582																																						ENST00000429452.1																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(3160-3162)gGc>gTc		microtubule associated monooxygenase, calponin and LIM domain containing 3							29	31	31					22																	18347481		1568	3582	5150	SO:0001627	intron_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18347481C>A	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+183G>T	22.37:g.18347481C>A						MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.G1054V|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000400561.2_Intron	p.G1054V	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	23	3513	-		all_epithelial(15;0.198)	0			Glu-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3161G>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148315	0.37923	.	.	ENSG00000093100	ENST00000429452	T	0.63744	-0.06	5.81	3.64	0.41730	.	.	.	.	.	T	0.44244	0.1284	.	.	.	0.40706	D	0.982522	B	0.02656	0.0	B	0.04013	0.001	T	0.33189	-0.9878	8	0.24483	T	0.36	.	8.1154	0.30940	0.345:0.5404:0.1147:0.0	.	1054	B2RXJ5	.	V	1054	ENSP00000414846:G1054V	ENSP00000414846:G1054V	G	-	2	0	XXbac-B461K10.4	16727481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.589000	0.46145	2.738000	0.93877	0.655000	0.94253	GGC		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	90	1	0	0.000157383	1	0.000159814	8	90					A	18347481	C	A	18347481	1	1	79	0	1	0	0	0	0	0	0	0	9612	739	26	3		3	MICAL3	22	18347481	Intron	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46318	18347481	32957085	20756	31073											
MICAL3	57553	broad.mit.edu	37	chr22	18385498	18385498	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctactttcaaaagtattagtTggagctgacggatacctggg	11	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18385498T>C	ENST00000441493.2	-	4	840	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	163	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGTATTAGTTGGAGCTGACG	0.502																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(487-489)cAa>cGa		microtubule associated monooxygenase, calponin and LIM domain containing 3							103	91	95					22																	18385498		1568	3581	5149	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18385498T>C	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.488A>G	22.37:g.18385498T>C	ENSP00000416015:p.Gln163Arg					MICAL3_ENST00000207726.7_Missense_Mutation_p.Q163R|MICAL3_ENST00000429452.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000383094.3_Missense_Mutation_p.Q163R|MICAL3_ENST00000444520.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000585038.1_Missense_Mutation_p.Q163R|MICAL3_ENST00000414725.2_Missense_Mutation_p.Q163R|MICAL3_ENST00000400561.2_Missense_Mutation_p.Q163R	p.Q163R	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	4	840	-		all_epithelial(15;0.198)	163					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.488A>G	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633749	0.87660	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09;3.09	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	M	0.93197	3.39	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.999;0.985;1.0;1.0;0.985	T	0.54715	-0.8252	10	0.87932	D	0	.	16.2169	0.82237	0.0:0.0:0.0:1.0	.	163;163;163;163;163	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	R	163	ENSP00000416015:Q163R;ENSP00000414846:Q163R;ENSP00000383406:Q163R;ENSP00000410315:Q163R;ENSP00000391827:Q163R;ENSP00000372574:Q163R;ENSP00000207726:Q163R	ENSP00000207726:Q163R	Q	-	2	0	XXbac-B461K10.4;MICAL3	16765498	1.000000	0.71417	0.937000	0.37676	0.841000	0.47740	8.036000	0.88901	2.223000	0.72356	0.533000	0.62120	CAA		0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			7	45	0	0	0	1	0	7	45					C	18385498	T	C	18385498	3	2	79	1	0	0	0	0	1	0	0	0	9612	1812	63	4	6373	4	MICAL3	22	18385498	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	38017	18385498	32919068	20757	31074											
MICAL3	57553	broad.mit.edu	37	chr22	18387407	18387407	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttttacttactgatatggtCgatggctccagcacagaact	9	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18387407C>T	ENST00000441493.2	-	3	815	c.463G>A	c.(463-465)Gac>Aac	p.D155N	MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	155	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGATATGGTCGATGGCTCCA	0.478																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(463-465)Gac>Aac		microtubule associated monooxygenase, calponin and LIM domain containing 3							208	188	194					22																	18387407		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18387407C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.463G>A	22.37:g.18387407C>T	ENSP00000416015:p.Asp155Asn					MICAL3_ENST00000207726.7_Missense_Mutation_p.D155N|MICAL3_ENST00000429452.1_Missense_Mutation_p.D155N|MICAL3_ENST00000383094.3_Missense_Mutation_p.D155N|MICAL3_ENST00000444520.1_Missense_Mutation_p.D155N|MICAL3_ENST00000585038.1_Missense_Mutation_p.D155N|MICAL3_ENST00000414725.2_Missense_Mutation_p.D155N|MICAL3_ENST00000400561.2_Missense_Mutation_p.D155N	p.D155N	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	3	815	-		all_epithelial(15;0.198)	155					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.463G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.808007	0.96967	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.30417	0.0764	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.989;1.0;0.999	D;D;P;D;D	0.91635	0.999;0.962;0.753;0.994;0.973	T	0.00529	-1.1687	10	0.66056	D	0.02	.	19.6914	0.96002	0.0:1.0:0.0:0.0	.	155;155;155;155;155	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	N	155	ENSP00000416015:D155N;ENSP00000414846:D155N;ENSP00000383406:D155N;ENSP00000410315:D155N;ENSP00000391827:D155N;ENSP00000372574:D155N;ENSP00000207726:D155N	ENSP00000207726:D155N	D	-	1	0	XXbac-B461K10.4;MICAL3	16767407	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.818000	0.86416	2.644000	0.89710	0.563000	0.77884	GAC		0.478	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			129	606	0	0	0	1	0	129	606					T	18387407	C	T	18387407	3	4	79	1	0	0	0	0	1	0	0	0	9612	884	31	1	6402	1	MICAL3	22	18387407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1909	18387407	32917159	20758	31075											
TUBA8	51807	broad.mit.edu	37	chr22	18604408	18604408	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacctttttcagcgagActggcaatgggaagcatgtg	11	10	2	1	rs575784867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18604408A>C	ENST00000330423.3	+	2	239	c.166A>C	c.(166-168)Act>Cct	p.T56P	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	56					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						TTTCAGCGAGACTGGCAATGG	0.557																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(166-168)Act>Cct		tubulin, alpha 8							92	80	84					22																	18604408		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18604408A>C	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.166A>C	22.37:g.18604408A>C	ENSP00000333326:p.Thr56Pro					TUBA8_ENST00000316027.6_5'UTR	p.T56P	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			2	239	+			56					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.166A>C	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818843	0.50633	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.70869	-0.52;-0.52	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (4);	0.171645	0.50627	D	0.000104	T	0.80423	0.4620	H	0.95260	3.645	0.54753	D	0.999987	B;B;B	0.24186	0.058;0.022;0.099	B;B;B	0.27796	0.083;0.027;0.044	T	0.82376	-0.0488	10	0.87932	D	0	.	14.2915	0.66281	1.0:0.0:0.0:0.0	.	80;56;55	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	P	56;80	ENSP00000333326:T56P;ENSP00000412646:T80P	ENSP00000333326:T56P	T	+	1	0	TUBA8	16984408	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.339000	0.96797	2.030000	0.59900	0.459000	0.35465	ACT		0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		51	234	0	0	0	1	0	51	234					C	18604408	A	C	18604408	3	2	79	1	0	0	0	0	1	0	0	0	16804	275	10	4	172	4	TUBA8	22	18604408	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	217001	18604408	32700158	20759	31076											
TUBA8	51807	broad.mit.edu	37	chr22	18609176	18609176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccacagttttggtggggGcactggctccggcttcactt	12	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609176G>A	ENST00000330423.3	+	4	504	c.431G>A	c.(430-432)gGc>gAc	p.G144D	TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	144					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						TTTGGTGGGGGCACTGGCTCC	0.537																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(430-432)gGc>gAc		tubulin, alpha 8							95	99	97					22																	18609176		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609176G>A	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.431G>A	22.37:g.18609176G>A	ENSP00000333326:p.Gly144Asp					TUBA8_ENST00000316027.6_Missense_Mutation_p.G78D	p.G144D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			4	504	+			144					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.431G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520016	0.64634	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.89485	-2.52;-2.52;-2.52	5.49	5.49	0.81192	Tubulin, conserved site (1);Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	H	0.99983	5.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99466	1.0944	10	0.87932	D	0	.	18.7174	0.91680	0.0:0.0:1.0:0.0	.	168;144	C9J2C0;Q9NY65	.;TBA8_HUMAN	D	78;144;168	ENSP00000318575:G78D;ENSP00000333326:G144D;ENSP00000412646:G168D	ENSP00000318575:G78D	G	+	2	0	TUBA8	16989176	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.869000	0.99810	2.735000	0.93741	0.655000	0.94253	GGC		0.537	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		25	695	0	0	0	1	0	25	695					A	18609176	G	A	18609176	3	1	79	1	0	0	0	0	1	0	0	0	16804	1203	42	2	445	2	TUBA8	22	18609176	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4768	18609176	32695390	20760	31077											
TUBA8	51807	broad.mit.edu	37	chr22	18609586	18609586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatctctgccgagaaaGcctatcacgaacagctctct	6	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609586G>A	ENST00000330423.3	+	4	914	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	281					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						TGCCGAGAAAGCCTATCACGA	0.582																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(841-843)Gcc>Acc		tubulin, alpha 8							113	92	99					22																	18609586		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18609586G>A	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.841G>A	22.37:g.18609586G>A	ENSP00000333326:p.Ala281Thr					TUBA8_ENST00000316027.6_Missense_Mutation_p.A215T	p.A281T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			4	914	+			281					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.841G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.183629	0.78677	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.82081	-1.57;-1.57;-1.57	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	H	0.96048	3.76	0.80722	D	1	P;P;B	0.49783	0.91;0.928;0.064	P;P;B	0.51945	0.569;0.685;0.058	D	0.94254	0.7496	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	215;305;281	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	215;281;305	ENSP00000318575:A215T;ENSP00000333326:A281T;ENSP00000412646:A305T	ENSP00000318575:A215T	A	+	1	0	TUBA8	16989586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	GCC		0.582	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		112	453	0	0	0	1	0	112	453					A	18609586	G	A	18609586	3	1	79	1	0	0	0	0	1	0	0	0	16804	971	34	2	855	2	TUBA8	22	18609586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	410	18609586	32694980	20761	31078											
DGCR6	8214	broad.mit.edu	37	chr22	18898402	18898402	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccggccccacggcaggCggtggagcaccggatccgtg	16	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	ENST00000331444.6	+	4	526	c.374C>T	c.(373-375)gCg>gTg	p.A125V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	125					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CCACGGCAGGCGGTGGAGCAC	0.657																																						ENST00000331444.6																			0				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						c.e4-1		DiGeorge syndrome critical region gene 6							30	29	30					22																	18898402		2202	4299	6501	SO:0001630	splice_region_variant	8214				cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix		g.chr22:18898402C>T	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.373-1C>T	22.37:g.18898402C>T						DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	p.A125_splice	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN			4	526	+			125					B2RCH5|D3DX15|G5E9J8|Q9BY28	Splice_Site	SNP	ENST00000331444.6	37	c.372_splice	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.870249	0.51588	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.32988	1.43	4.84	4.84	0.62591	.	0.324157	0.31976	N	0.006774	T	0.33498	0.0865	M	0.67953	2.075	0.46437	D	0.999046	B	0.24368	0.102	B	0.14578	0.011	T	0.11446	-1.0587	10	0.38643	T	0.18	-11.6622	15.7939	0.78394	0.0:1.0:0.0:0.0	.	125	Q14129	DGCR6_HUMAN	V	125;45	ENSP00000331681:A125V	ENSP00000331681:A125V	A	+	2	0	DGCR6	17278402	0.995000	0.38212	0.929000	0.37066	0.011000	0.07611	3.266000	0.51569	2.421000	0.82119	0.430000	0.28490	GCG		0.657	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675	Missense_Mutation	35	163	0	0	0	1	0	35	163					T	18898402	C	T	18898402	5	4	79	1	0	0	0	0	0	0	1	0	4478	782	27	1	388	1	DGCR6	22	18898402	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	288816	18898402	32406164	20762	31079											
DGCR6	8214	broad.mit.edu	37	chr22	18898435	18898435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccgtgaggagcagcgggCgatggaccagaagatcgtcc	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898435C>T	ENST00000331444.6	+	4	559	c.407C>T	c.(406-408)gCg>gTg	p.A136V	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_5'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	136					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GAGCAGCGGGCGATGGACCAG	0.677																																						ENST00000331444.6																			0				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						c.(406-408)gCg>gTg		DiGeorge syndrome critical region gene 6							84	69	74					22																	18898435		2203	4298	6501	SO:0001583	missense	8214				cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix		g.chr22:18898435C>T	X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.407C>T	22.37:g.18898435C>T	ENSP00000331681:p.Ala136Val					DGCR6_ENST00000413981.1_5'UTR|DGCR6_ENST00000436645.1_3'UTR	p.A136V	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN			4	559	+			136					B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	ENST00000331444.6	37	c.407C>T	CCDS13753.1	.	.	.	.	.	.	.	.	.	.	c	13.02	2.111898	0.37242	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.30182	1.54	4.84	3.8	0.43715	.	0.137408	0.64402	D	0.000006	T	0.18718	0.0449	L	0.34521	1.04	0.22066	N	0.999382	P	0.38767	0.646	B	0.31495	0.131	T	0.20371	-1.0277	10	0.56958	D	0.05	-12.7504	8.0617	0.30638	0.0:0.8115:0.0:0.1885	.	136	Q14129	DGCR6_HUMAN	V	136;56	ENSP00000331681:A136V	ENSP00000331681:A136V	A	+	2	0	DGCR6	17278435	0.300000	0.24435	0.838000	0.33150	0.545000	0.35147	2.182000	0.42556	2.421000	0.82119	0.430000	0.28490	GCG		0.677	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316631.2	NM_005675		43	200	0	0	0	1	0	43	200					T	18898435	C	T	18898435	3	4	79	1	0	0	0	0	1	0	0	0	4478	768	27	1	421	1	DGCR6	22	18898435	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33	18898435	32406131	20763	31080											
PRODH	5625	broad.mit.edu	37	chr22	18910658	18910658	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccccagtgctgtgagCttaatggctatgaagccgtc	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18910658C>A	ENST00000357068.6	-	5	967	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PRODH_ENST00000334029.2_Missense_Mutation_p.K126N|PRODH_ENST00000420436.1_Missense_Mutation_p.K126N	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	234					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGCTGTGAGCTTAATGGCTA	0.572																																						ENST00000357068.6																			0				breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9						c.(700-702)aaG>aaT		proline dehydrogenase (oxidase) 1	L-Proline(DB00172)						105	106	105					22																	18910658		2203	4300	6503	SO:0001583	missense	5625				glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity	g.chr22:18910658C>A	AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.702G>T	22.37:g.18910658C>A	ENSP00000349577:p.Lys234Asn					PRODH_ENST00000334029.2_Missense_Mutation_p.K126N|PRODH_ENST00000420436.1_Missense_Mutation_p.K126N	p.K234N	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN			5	967	-			234					A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Missense_Mutation	SNP	ENST00000357068.6	37	c.702G>T	CCDS13754.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.436079	0.43224	.	.	ENSG00000100033	ENST00000357068;ENST00000399694;ENST00000450579	T;T	0.54071	0.59;0.59	4.98	2.82	0.32997	Proline dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.71846	0.3388	M	0.90870	3.155	0.54753	D	0.999985	D;D;D	0.60160	0.971;0.987;0.987	P;D;D	0.65140	0.841;0.926;0.932	T	0.72312	-0.4331	10	0.87932	D	0	-63.2333	6.6797	0.23113	0.0:0.7574:0.0:0.2426	.	150;234;126	O43272-1;O43272;E7EQL6	.;PROD_HUMAN;.	N	234;27;75	ENSP00000349577:K234N;ENSP00000396806:K75N	ENSP00000334726:K126N	K	-	3	2	PRODH	17290658	0.998000	0.40836	1.000000	0.80357	0.145000	0.21501	0.497000	0.22514	0.589000	0.29677	0.550000	0.68814	AAG		0.572	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316637.2	NM_016335		105	473	1	0	2.13536e-36	1	2.55586e-36	105	473					A	18910658	C	A	18910658	3	1	79	1	0	0	0	0	1	0	0	0	12595	796	28	3	1140	3	PRODH	22	18910658	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12223	18910658	32393908	20764	31081											
DGCR2	9993	broad.mit.edu	37	chr22	19028666	19028666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccgggtacttgtatgccGtgtagggaggtggagggtcg	19	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19028666G>A	ENST00000263196.7	-	9	1548	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	434					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTTGTATGCCGTGTAGGGAGG	0.642																																						ENST00000263196.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(1300-1302)aCg>aTg		DiGeorge syndrome critical region gene 2							112	89	97					22																	19028666		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19028666G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1301C>T	22.37:g.19028666G>A	ENSP00000263196:p.Thr434Met					DGCR2_ENST00000537045.1_Missense_Mutation_p.T393M|DGCR2_ENST00000545799.1_3'UTR	p.T434M	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN			9	1548	-	Colorectal(54;0.0993)		434					A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.1301C>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790750	0.90367	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97161	0.84;-4.27	5.97	5.97	0.96955	.	0.044331	0.85682	D	0.000000	D	0.98108	0.9376	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67103	0.949;0.891	D	0.97900	1.0302	10	0.48119	T	0.1	.	20.0384	0.97572	0.0:0.0:1.0:0.0	.	390;434	B7Z3T5;P98153	.;IDD_HUMAN	M	393;434	ENSP00000440062:T393M;ENSP00000263196:T434M	ENSP00000263196:T434M	T	-	2	0	DGCR2	17408666	1.000000	0.71417	0.975000	0.42487	0.760000	0.43138	7.890000	0.87313	2.837000	0.97791	0.655000	0.94253	ACG		0.642	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		65	295	0	0	0	1	0	65	295					A	19028666	G	A	19028666	3	1	79	1	0	0	0	0	1	0	0	0	4477	1145	40	1	359	1	DGCR2	22	19028666	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118008	19028666	32275900	20765	31082											
DGCR2	9993	broad.mit.edu	37	chr22	19076975	19076975	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatggtgccgctgcgacaCgcaaactgcccagggttgca	14	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19076975C>T	ENST00000263196.7	-	2	355	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DGCR2_ENST00000545799.1_Silent_p.A36A|DGCR2_ENST00000537045.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCTGCGACACGCAAACTGCC	0.622																																						ENST00000545799.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(106-108)gcG>gcA		DiGeorge syndrome critical region gene 2							72	57	62					22																	19076975		2203	4300	6503	SO:0001819	synonymous_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19076975C>T	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.108G>A	22.37:g.19076975C>T						DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Silent_p.A36A	p.A36A			P98153	IDD_HUMAN			2	308	-	Colorectal(54;0.0993)		36			LDL-receptor class A.		A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.108G>A	CCDS33598.1																																																																																				0.622	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		65	233	0	0	0	1	0	65	233					T	19076975	C	T	19076975	2	4	79	1	0	0	0	0	0	0	0	1	4477	523	19	1		1	DGCR2	22	19076975	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	48309	19076975	32227591	20766	31083											
TSSK2	23617	broad.mit.edu	37	chr22	19119450	19119450	+	Missense_Mutation	SNP	G	G	A													agaccttctgcgggtcggcaGcatatgcagcccccgaggtg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119450G>A	ENST00000399635.2	+	1	1130	c.538G>A	c.(538-540)Gca>Aca	p.A180T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGGGTCGGCAGCATATGCAGC	0.592																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(538-540)Gca>Aca		testis-specific serine kinase 2							99	96	97					22																	19119450		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119450G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.538G>A	22.37:g.19119450G>A	ENSP00000382544:p.Ala180Thr					DGCR14_ENST00000252137.6_3'UTR	p.A180T	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1130	+	Colorectal(54;0.0993)		180			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.538G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241807	0.58995	.	.	ENSG00000206203	ENST00000399635	T	0.64991	-0.13	5.34	5.34	0.76211	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	0.49916	D	0.000140	T	0.75671	0.3881	L	0.53780	1.695	0.39311	D	0.96508	D	0.89917	1.0	D	0.85130	0.997	T	0.75204	-0.3400	10	0.39692	T	0.17	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	180	Q96PF2	TSSK2_HUMAN	T	180	ENSP00000382544:A180T	ENSP00000382544:A180T	A	+	1	0	TSSK2	17499450	0.322000	0.24634	0.088000	0.20740	0.068000	0.16541	2.742000	0.47434	2.487000	0.83934	0.655000	0.94253	GCA		0.592	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			61	642	0	0	0	1	0	61	642					A	19119450	G	A	19119450	3	1	79	1	0	0	0	0	1	0	0	0	16722	971	34	2	540	2	TSSK2	22	19119450	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42475	19119450	32185116	20767	31084	202	2									
TSSK2	23617	broad.mit.edu	37	chr22	19119459	19119459	+	Missense_Mutation	SNP	G	G	A													gcgggtcggcagcatatgcaGcccccgaggtgctgcagagc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119459G>A	ENST00000399635.2	+	1	1139	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	183	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGCATATGCAGCCCCCGAGGT	0.597																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(547-549)Gcc>Acc		testis-specific serine kinase 2							92	92	92					22																	19119459		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119459G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.547G>A	22.37:g.19119459G>A	ENSP00000382544:p.Ala183Thr					DGCR14_ENST00000252137.6_3'UTR	p.A183T	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	1139	+	Colorectal(54;0.0993)		183			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.547G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120288	0.77323	.	.	ENSG00000206203	ENST00000399635	D	0.92099	-2.97	5.34	5.34	0.76211	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	0.49916	D	0.000140	D	0.97567	0.9203	H	0.96662	3.86	0.44309	D	0.997186	D	0.76494	0.999	D	0.78314	0.991	D	0.98911	1.0780	10	0.87932	D	0	.	17.823	0.88656	0.0:0.0:1.0:0.0	.	183	Q96PF2	TSSK2_HUMAN	T	183	ENSP00000382544:A183T	ENSP00000382544:A183T	A	+	1	0	TSSK2	17499459	1.000000	0.71417	0.978000	0.43139	0.764000	0.43329	5.266000	0.65525	2.487000	0.83934	0.655000	0.94253	GCC		0.597	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			126	572	0	0	0	1	0	126	572					A	19119459	G	A	19119459	3	1	79	1	0	0	0	0	1	0	0	0	16722	971	34	2	549	2	TSSK2	22	19119459	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9	19119459	32185107	20768	31085	202	2									
SLC25A1	6576	broad.mit.edu	37	chr22	19163678	19163678	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgttgagcagcttcaCcacttcatcatagatgacaa	6	11	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19163678C>T	ENST00000215882.5	-	9	1057	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	SLC25A1_ENST00000461267.1_5'Flank|SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	301					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGCAGCTTCACCACTTCATCA	0.602																																						ENST00000215882.5																			0				cervix(1)|lung(1)	2						c.(901-903)Gtg>Atg		solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1							99	96	97					22																	19163678		2203	4300	6503	SO:0001583	missense	6576				gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding	g.chr22:19163678C>T	U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"Solute carriers"	10979	protein-coding gene	gene with protein product		190315	"solute carrier family 20 (mitochondrial citrate transporter), member 3"	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.901G>A	22.37:g.19163678C>T	ENSP00000215882:p.Val301Met					SLC25A1_ENST00000451283.1_Missense_Mutation_p.V198M	p.V301M	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN		Lung(27;0.124)	9	1057	-	Colorectal(54;0.0993)	all_lung(157;9.94e-09)	301					A8K8E8|Q9BSK6	Missense_Mutation	SNP	ENST00000215882.5	37	c.901G>A	CCDS13758.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640612	0.29157	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.79141	-1.24;-1.24	5.12	5.12	0.69794	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	T	0.56470	0.1987	N	0.03294	-0.36	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.25987	0.065;0.065	T	0.57802	-0.7748	10	0.02654	T	1	-17.2283	18.7549	0.91828	0.0:1.0:0.0:0.0	.	308;301	D9HTE9;P53007	.;TXTP_HUMAN	M	301;198	ENSP00000215882:V301M;ENSP00000401480:V198M	ENSP00000215882:V301M	V	-	1	0	SLC25A1	17543678	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.596000	0.82721	2.661000	0.90470	0.561000	0.74099	GTG		0.602	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316441.1	NM_005984		93	506	0	0	0	1	0	93	506					T	19163678	C	T	19163678	3	4	79	1	0	0	0	0	1	0	0	0	14521	507	18	2	38	2	SLC25A1	22	19163678	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44219	19163678	32140888	20769	31086											
CLTCL1	8218	broad.mit.edu	37	chr22	19226854	19226854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaaaaaacacatctactgCtttctttacaaaaggttggt	7	7	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19226854C>T	ENST00000263200.10	-	5	811	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	247	Globular terminal domain.|WD40-like repeat 5.				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)					ACATCTACTGCTTTCTTTACA	0.443			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				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						c.(739-741)Gca>Aca		clathrin, heavy chain-like 1							208	205	206					22																	19226854		1900	4121	6021	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226854C>T		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.739G>A	22.37:g.19226854C>T	ENSP00000445677:p.Ala247Thr					CLTCL1_ENST00000427926.1_Missense_Mutation_p.A247T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A247T	p.A247T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			5	811	-	Colorectal(54;0.0993)		247			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.739G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239292	0.39598	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23147	1.92;1.92;1.92	3.91	1.72	0.24424	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.235741	0.34411	N	0.003991	T	0.21590	0.0520	L	0.49571	1.57	0.58432	D	0.999993	B;B	0.12013	0.002;0.005	B;B	0.22880	0.035;0.042	T	0.04885	-1.0920	10	0.34782	T	0.22	-3.3688	8.444	0.32830	0.0:0.7569:0.1558:0.0873	.	247;247	P53675-2;P53675	.;CLH2_HUMAN	T	247	ENSP00000439662:A247T;ENSP00000445677:A247T;ENSP00000441158:A247T	ENSP00000445677:A247T	A	-	1	0	CLTCL1	17606854	1.000000	0.71417	0.914000	0.36105	0.626000	0.37791	4.046000	0.57376	0.286000	0.22352	0.591000	0.81541	GCA		0.443	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		165	765	0	0	0	1	0	165	765					T	19226854	C	T	19226854	3	4	79	1	0	0	0	0	1	0	0	0	3576	797	28	2	4295	2	CLTCL1	22	19226854	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63176	19226854	32077712	20770	31087											
MRPL40	64976	broad.mit.edu	37	chr22	19422398	19422398	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagattttattacccctctaAagttcttggataaagcaagg	7	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19422398A>C	ENST00000333130.3	+	3	930	c.277A>C	c.(277-279)Aag>Cag	p.K93Q	MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	93					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TACCCCTCTAAAGTTCTTGGA	0.403																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(277-279)Aag>Cag		mitochondrial ribosomal protein L40							76	82	80					22																	19422398		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19422398A>C	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"Mitochondrial ribosomal proteins / large subunits"	14491	protein-coding gene	gene with protein product		605089	"nuclear localization signal deleted in velocardiofacial syndrome"	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.277A>C	22.37:g.19422398A>C	ENSP00000333401:p.Lys93Gln					HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron	p.K93Q	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			3	930	+	Colorectal(54;0.0993)		93					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.277A>C	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955592	0.34471	.	.	ENSG00000185608	ENST00000333130	T	0.46063	0.88	4.59	3.56	0.40772	.	0.159814	0.53938	D	0.000042	T	0.40909	0.1136	M	0.73430	2.235	0.48632	D	0.999688	B	0.12630	0.006	B	0.16722	0.016	T	0.35871	-0.9771	10	0.54805	T	0.06	-13.9279	7.116	0.25416	0.7748:0.1472:0.078:0.0	.	93	Q9NQ50	RM40_HUMAN	Q	93	ENSP00000333401:K93Q	ENSP00000333401:K93Q	K	+	1	0	MRPL40	17802398	0.999000	0.42202	0.543000	0.28128	0.842000	0.47809	4.238000	0.58688	0.906000	0.36621	0.460000	0.39030	AAG		0.403	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		16	425	0	0	0	1	0	16	425					C	19422398	A	C	19422398	3	2	79	1	0	0	0	0	1	0	0	0	9845	15	1	4	287	4	MRPL40	22	19422398	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	195544	19422398	31882168	20771	31088											
UFD1L	7353	broad.mit.edu	37	chr22	19459280	19459280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacaatgcgtcatgcggtccGaattcttattggtcagtttg	10	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	ENST00000263202.10	-	4	350	c.221C>T	c.(220-222)tCg>tTg	p.S74L	UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	74					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATGCGGTCCGAATTCTTATT	0.522																																						ENST00000263202.9																			0				large_intestine(3)|upper_aerodigestive_tract(1)	4						c.(220-222)tCg>tTg		ubiquitin fusion degradation 1 like (yeast)							109	88	95					22																	19459280		2203	4300	6503	SO:0001583	missense	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19459280G>A	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"ubiquitin fusion degradation 1-like"			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.221C>T	22.37:g.19459280G>A	ENSP00000263202:p.Ser74Leu					UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Missense_Mutation_p.S63L|UFD1L_ENST00000399523.1_Missense_Mutation_p.S74L	p.S74L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN			4	350	-	Colorectal(54;0.0993)		74					A8MW31|Q9Y5N0	Missense_Mutation	SNP	ENST00000263202.10	37	c.221C>T	CCDS13761.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986677	0.74589	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.46157	1.445	0.80722	D	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.17722	0.019;0.007;0.007	T	0.14254	-1.0479	10	0.33940	T	0.23	.	19.7254	0.96162	0.0:0.0:1.0:0.0	.	74;74;74	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	L	74;63;74;74;63;69;10	ENSP00000263202:S74L;ENSP00000354079:S63L;ENSP00000382439:S74L;ENSP00000406680:S63L;ENSP00000418390:S69L;ENSP00000418295:S10L	ENSP00000263202:S74L	S	-	2	0	UFD1L	17839280	1.000000	0.71417	0.945000	0.38365	0.970000	0.65996	9.476000	0.97823	2.732000	0.93576	0.650000	0.86243	TCG		0.522	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6			77	265	0	0	0	1	0	77	265					A	19459280	G	A	19459280	3	1	79	1	0	0	0	0	1	0	0	0	16989	1059	37	1	738	1	UFD1L	22	19459280	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36882	19459280	31845286	20772	31089											
SEPT5	5413	broad.mit.edu	37	chr22	19707735	19707735	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgtggacacgccgggattCggggacgctgtcaacaacac	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19707735C>T	ENST00000455784.2	+	5	461	c.336C>T	c.(334-336)ttC>ttT	p.F112F	SEPT5_ENST00000438754.2_Silent_p.F121F|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Silent_p.F112F|SEPT5_ENST00000383045.3_Silent_p.F121F	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	112	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)					CGCCGGGATTCGGGGACGCTG	0.592																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(361-363)ttC>ttT		septin 5							110	91	97					22																	19707735		2202	4300	6502	SO:0001819	synonymous_variant	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19707735C>T	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.336C>T	22.37:g.19707735C>T						SEPT5_ENST00000383045.3_Silent_p.F121F|SEPT5_ENST00000455784.2_Silent_p.F112F|SEPT5_ENST00000406395.1_Silent_p.F112F	p.F121F	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			4	643	+	Colorectal(54;0.0993)		112					O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	c.363C>T	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	C	3.617	-0.078448	0.07184	.	.	ENSG00000184702	ENST00000413258	.	.	.	3.89	-1.62	0.08372	.	.	.	.	.	T	0.54598	0.1868	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50939	-0.8768	4	.	.	.	.	9.162	0.37028	0.0:0.2228:0.0:0.7772	.	.	.	.	W	9	.	.	R	+	1	2	SEPT5	18087735	0.199000	0.23386	0.544000	0.28141	0.106000	0.19336	-0.505000	0.06367	-0.093000	0.12396	0.455000	0.32223	CGG		0.592	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		31	169	0	0	0	1	0	31	169					T	19707735	C	T	19707735	2	4	79	1	0	0	0	0	0	0	0	1	14117	883	31	1		1	SEPT5	22	19707735	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	248455	19707735	31596831	20773	31090											
SEPT5	5413	broad.mit.edu	37	chr22	19708076	19708076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctgctctcggcaggctgCggccagtggatgtgggtttc	17	10	1	0	rs201668611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19708076C>T	ENST00000455784.2	+	7	627	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	SEPT5_ENST00000438754.2_Missense_Mutation_p.R177W|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W|SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	168	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)					CGGCAGGCTGCGGCCAGTGGA	0.607																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(529-531)Cgg>Tgg		septin 5							52	43	46					22																	19708076		2203	4300	6503	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19708076C>T	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.502C>T	22.37:g.19708076C>T	ENSP00000391311:p.Arg168Trp					SEPT5_ENST00000383045.3_Missense_Mutation_p.R177W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R168W|SEPT5_ENST00000406395.1_Missense_Mutation_p.R168W	p.R177W	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			6	809	+	Colorectal(54;0.0993)		168					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.529C>T	CCDS13764.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.99	2.102444	0.37145	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000446882;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754;ENST00000395109	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	2.97	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	H	0.95712	3.71	0.80722	D	1	P	0.43094	0.799	P	0.49332	0.607	T	0.72090	-0.4395	10	0.87932	D	0	.	7.2471	0.26127	0.4087:0.453:0.1383:0.0	.	168	Q99719	SEPT5_HUMAN	W	168;168;139;121;206;177;177;121	ENSP00000391311:R168W;ENSP00000384535:R168W;ENSP00000408678:R121W;ENSP00000414488:R206W;ENSP00000372515:R177W;ENSP00000394541:R177W;ENSP00000378541:R121W	ENSP00000372515:R177W	R	+	1	2	SEPT5	18088076	0.098000	0.21812	0.999000	0.59377	0.695000	0.40330	0.445000	0.21677	0.743000	0.32719	0.313000	0.20887	CGG		0.607	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		70	250	0	0	0	1	0	70	250					T	19708076	C	T	19708076	3	4	79	1	0	0	0	0	1	0	0	0	14117	759	27	1	528	1	SEPT5	22	19708076	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	341	19708076	31596490	20774	31091											
SEPT5	5413	broad.mit.edu	37	chr22	19709181	19709181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcgcgcccttcgccGttataggcagcaacacggtg	14	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709181G>A	ENST00000455784.2	+	9	861	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SEPT5_ENST00000438754.2_Missense_Mutation_p.V255I|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I|SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	246	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)					GCCCTTCGCCGTTATAGGCAG	0.637																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(763-765)Gtt>Att		septin 5							39	47	44					22																	19709181		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709181G>A	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.736G>A	22.37:g.19709181G>A	ENSP00000391311:p.Val246Ile					SEPT5_ENST00000383045.3_Missense_Mutation_p.V255I|SEPT5_ENST00000455784.2_Missense_Mutation_p.V246I|SEPT5_ENST00000406395.1_Missense_Mutation_p.V246I	p.V255I	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			8	1043	+	Colorectal(54;0.0993)		246					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.763G>A	CCDS13764.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248348	0.95305	.	.	ENSG00000184702	ENST00000455784;ENST00000406395;ENST00000412544;ENST00000431124;ENST00000383045;ENST00000438754	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	3.92	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.58864	0.2152	L	0.58669	1.825	0.58432	D	0.999995	P	0.51147	0.942	P	0.60068	0.868	T	0.61476	-0.7055	10	0.62326	D	0.03	.	11.7634	0.51916	0.0873:0.0:0.9127:0.0	.	246	Q99719	SEPT5_HUMAN	I	246;246;199;284;255;255	ENSP00000391311:V246I;ENSP00000384535:V246I;ENSP00000408678:V199I;ENSP00000414488:V284I;ENSP00000372515:V255I;ENSP00000394541:V255I	ENSP00000372515:V255I	V	+	1	0	SEPT5	18089181	1.000000	0.71417	0.008000	0.14137	0.367000	0.29736	9.496000	0.97967	1.011000	0.39340	0.478000	0.44815	GTT		0.637	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		22	399	0	0	0	1	0	22	399					A	19709181	G	A	19709181	3	1	79	1	0	0	0	0	1	0	0	0	14117	1145	40	1	770	1	SEPT5	22	19709181	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1105	19709181	31595385	20775	31092											
SEPT5	5413	broad.mit.edu	37	chr22	19709380	19709380	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgcgacttcgtgaagctgCgcaacatgctcatccgcacg	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709380C>T	ENST00000455784.2	+	10	975	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	SEPT5_ENST00000438754.2_Missense_Mutation_p.A289V|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V|SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	284	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)					CGTGAAGCTGCGCAACATGCT	0.642																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(865-867)gCg>gTg		septin 5							62	58	60					22																	19709380		2203	4299	6502	SO:0001583	missense	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709380C>T	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.850C>T	22.37:g.19709380C>T	ENSP00000391311:p.Arg284Cys					SEPT5_ENST00000383045.3_Missense_Mutation_p.R293C|SEPT5_ENST00000455784.2_Missense_Mutation_p.R284C|SEPT5_ENST00000406395.1_Missense_Mutation_p.A280V	p.A289V	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			9	1146	+	Colorectal(54;0.0993)		210					O15251|Q96MY5	Missense_Mutation	SNP	ENST00000455784.2	37	c.866C>T	CCDS13764.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627026|4.627026	0.87560|0.87560	.|.	.|.	ENSG00000184702|ENSG00000184702	ENST00000406395;ENST00000438754|ENST00000455784;ENST00000412544;ENST00000383045	T;T|T;T;T	0.51325|0.60299	0.71;0.71|0.2;0.2;0.2	3.82|3.82	0.147|0.147	0.14838|0.14838	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.81370|0.81370	0.4808|0.4808	H|H	0.96805|0.96805	3.885|3.885	0.23720|0.23720	N|N	0.997024|0.997024	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.74740|0.74740	-0.3563|-0.3563	7|10	0.54805|0.87932	T|D	0.06|0	.|.	12.3196|12.3196	0.54977|0.54977	0.5861:0.4139:0.0:0.0|0.5861:0.4139:0.0:0.0	.|.	.|284	.|Q99719	.|SEPT5_HUMAN	V|C	280;289|284;237;293	ENSP00000384535:A280V;ENSP00000394541:A289V|ENSP00000391311:R284C;ENSP00000408678:R237C;ENSP00000372515:R293C	ENSP00000384535:A280V|ENSP00000372515:R293C	A|R	+|+	2|1	0|0	SEPT5|SEPT5	18089380|18089380	0.999000|0.999000	0.42202|0.42202	0.780000|0.780000	0.31762|0.31762	0.991000|0.991000	0.79684|0.79684	0.891000|0.891000	0.28309|0.28309	0.026000|0.026000	0.15269|0.15269	0.478000|0.478000	0.44815|0.44815	GCG|CGC		0.642	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		79	283	0	0	0	1	0	79	283					T	19709380	C	T	19709380	3	4	79	1	0	0	0	0	1	0	0	0	14117	768	27	1	888	1	SEPT5	22	19709380	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	199	19709380	31595186	20776	31093											
TBX1	54584	broad.mit.edu	37	chr22	19770458	19770458	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcacagaaggctctggGctccaacctggcttgctgga	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19770458G>A	ENST00000329517.6	-	0	6706				TBX1_ENST00000359500.3_Silent_p.G344G	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)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					aaggctctgggctccaacctg	0.532																																						ENST00000359500.3																			0				breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8						c.(1030-1032)ggG>ggA		T-box 1							133	124	127					22																	19770458		2203	4300	6503	SO:0001628	intergenic_variant	6899				embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:19770458G>A	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.19770458G>A							p.G344G	NM_005992.1	NP_005983.1	O43435	TBX1_HUMAN			9	1161	+	Colorectal(54;0.0993)	all_lung(157;3.05e-06)	0					Q9H2S2|Q9H4M4	Silent	SNP	ENST00000329517.6	37	c.1032G>A	CCDS13768.1																																																																																				0.532	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			122	583	0	0	0	1	0	122	583					A	19770458	G	A	19770458	1	1	79	0	1	0	0	0	0	0	0	0	15702	1190	42	2		2	TBX1	22	19770458	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61078	19770458	31534108	20777	31094											
C22orf29	79680	broad.mit.edu	37	chr22	19838878	19838878	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggattagctgactccgacaGtctagggacaggtgtggggg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19838878G>T	ENST00000405640.1	-	2	1575	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|GNB1L_ENST00000329517.6_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	303	Pro-rich.				mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GACTCCGACAGTCTAGGGACA	0.597																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(907-909)Ctg>Atg		chromosome 22 open reading frame 29							56	54	54					22																	19838878		2203	4300	6503	SO:0001583	missense	79680							g.chr22:19838878G>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.907C>A	22.37:g.19838878G>T	ENSP00000384924:p.Leu303Met					C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.L303M|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.L303M|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron	p.L303M			Q7L3V2	CV029_HUMAN			2	1575	-	Colorectal(54;0.0993)		303			Pro-rich.		A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.907C>A	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456317	0.26161	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.26223	1.75;1.75;1.75	3.8	-1.02	0.10135	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	P	0.47677	0.899	P	0.45681	0.49	T	0.11084	-1.0602	9	0.62326	D	0.03	.	1.3263	0.02126	0.2023:0.1685:0.4561:0.1731	.	303	Q7L3V2	CV029_HUMAN	M	303	ENSP00000386111:L303M;ENSP00000330596:L303M;ENSP00000384924:L303M	ENSP00000330596:L303M	L	-	1	2	C22orf29	18218878	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.014000	0.12656	-0.058000	0.13177	0.650000	0.86243	CTG		0.597	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		51	216	1	0	3.10996e-30	1	3.64561e-30	51	216					T	19838878	G	T	19838878	3	4	79	1	0	0	0	0	1	0	0	0	2148	1020	36	3	191	3	C22orf29	22	19838878	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68420	19838878	31465688	20778	31095											
C22orf29	79680	broad.mit.edu	37	chr22	19839449	19839449	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaagcggtccagtagCcacggggagccatcaaaggt	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19839449C>T	ENST00000405640.1	-	2	1004	c.336G>A	c.(334-336)tgG>tgA	p.W112*	GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|GNB1L_ENST00000329517.6_Intron			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	112					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GGTCCAGTAGCCACGGGGAGC	0.622																																						ENST00000405640.1																			0				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(334-336)tgG>tgA		chromosome 22 open reading frame 29							56	66	63					22																	19839449		2203	4300	6503	SO:0001587	stop_gained	79680							g.chr22:19839449C>T	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.336G>A	22.37:g.19839449C>T	ENSP00000384924:p.Trp112*					C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Nonsense_Mutation_p.W112*|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Nonsense_Mutation_p.W112*|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron	p.W112*			Q7L3V2	CV029_HUMAN			2	1004	-	Colorectal(54;0.0993)		112					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Nonsense_Mutation	SNP	ENST00000405640.1	37	c.336G>A	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193545	0.58017	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	.	.	.	3.35	-0.0897	0.13667	.	0.286677	0.17698	U	0.165025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.2451	0.06794	0.0:0.5045:0.2252:0.2703	.	.	.	.	X	112	.	ENSP00000330596:W112X	W	-	3	0	C22orf29	18219449	0.002000	0.14202	0.080000	0.20451	0.026000	0.11368	0.006000	0.13152	0.059000	0.16252	0.591000	0.81541	TGG		0.622	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		94	452	0	0	0	1	0	94	452					T	19839449	C	T	19839449	4	4	79	1	0	0	0	0	0	1	0	0	2148	740	26	2	762	2	C22orf29	22	19839449	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	19839449	31465117	20779	31096											
TXNRD2	10587	broad.mit.edu	37	chr22	19868151	19868151	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagagaactcacattgtcGtagtccatcagatctgagga	10	9	3	3	rs544242322		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	ENST00000400521.1	-	13	1182	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000535882.1_Silent_p.Y391Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	392					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)					TCACATTGTCGTAGTCCATCA	0.622																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1171-1173)taC>taT		thioredoxin reductase 2							44	52	49					22																	19868151		2161	4258	6419	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19868151G>A	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.1176C>T	22.37:g.19868151G>A						TXNRD2_ENST00000400525.1_Silent_p.Y369Y|TXNRD2_ENST00000400518.1_Silent_p.Y362Y|TXNRD2_ENST00000400521.1_Silent_p.Y392Y|TXNRD2_ENST00000400519.1_Silent_p.Y391Y|TXNRD2_ENST00000542719.1_Silent_p.Y362Y	p.Y391Y			Q9NNW7	TRXR2_HUMAN			13	1172	-	Colorectal(54;0.0993)		392					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.1173C>T	CCDS42981.1																																																																																				0.622	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		59	213	0	0	0	1	0	59	213					A	19868151	G	A	19868151	2	1	79	1	0	0	0	0	0	0	0	1	16862	1140	40	1		1	TXNRD2	22	19868151	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28702	19868151	31436415	20780	31097											
TXNRD2	10587	broad.mit.edu	37	chr22	19870891	19870891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtggggcacagaggtgGcttcccgggagtccaccagg	17	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	ENST00000400521.1	-	12	1049	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000535882.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	348					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)					CACAGAGGTGGCTTCCCGGGA	0.627																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1039-1041)gCc>gTc		thioredoxin reductase 2							106	123	118					22																	19870891		2042	4195	6237	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19870891G>A	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.1043C>T	22.37:g.19870891G>A	ENSP00000383365:p.Ala348Val					TXNRD2_ENST00000400525.1_Missense_Mutation_p.A325V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.A318V|TXNRD2_ENST00000400521.1_Missense_Mutation_p.A348V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.A347V|TXNRD2_ENST00000542719.1_Missense_Mutation_p.A318V	p.A347V			Q9NNW7	TRXR2_HUMAN			12	1039	-	Colorectal(54;0.0993)		348					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1040C>T	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586106	0.28268	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.07	4.06	0.47325	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.538685	0.19402	N	0.115146	T	0.42877	0.1222	L	0.45422	1.42	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.37091	0.241;0.241	T	0.41431	-0.9509	10	0.56958	D	0.05	-20.6423	18.7819	0.91937	0.0:0.1189:0.881:0.0	.	348;347	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	V	318;348;348;325;252;347;347;318	ENSP00000383362:A318V;ENSP00000383365:A348V;ENSP00000383369:A325V;ENSP00000383363:A347V;ENSP00000439314:A347V;ENSP00000439570:A318V	ENSP00000383362:A318V	A	-	2	0	TXNRD2	18250891	1.000000	0.71417	0.637000	0.29366	0.091000	0.18340	3.776000	0.55356	0.652000	0.30806	-1.255000	0.01485	GCC		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		134	488	0	0	0	1	0	134	488					A	19870891	G	A	19870891	3	1	79	1	0	0	0	0	1	0	0	0	16862	1203	42	2	555	2	TXNRD2	22	19870891	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2740	19870891	31433675	20781	31098											
TXNRD2	10587	broad.mit.edu	37	chr22	19883045	19883045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacccgcgagggggcacaGcccctcaggaaccgggtgcc	15	16	1	1	rs371075332		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19883045G>A	ENST00000400521.1	-	11	840	c.834C>T	c.(832-834)ggC>ggT	p.G278G	TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Silent_p.G248G|TXNRD2_ENST00000535882.1_Silent_p.G277G|TXNRD2_ENST00000334363.9_Silent_p.G278G|TXNRD2_ENST00000400519.1_Silent_p.G277G|TXNRD2_ENST00000542719.1_Silent_p.G248G	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	278					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)					AGGGGGCACAGCCCCTCAGGA	0.622																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(829-831)ggC>ggT		thioredoxin reductase 2							66	78	74					22																	19883045		2090	4223	6313	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19883045G>A	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.834C>T	22.37:g.19883045G>A						TXNRD2_ENST00000400525.1_Silent_p.G255G|TXNRD2_ENST00000400518.1_Silent_p.G248G|TXNRD2_ENST00000400521.1_Silent_p.G278G|TXNRD2_ENST00000334363.9_Silent_p.G278G|TXNRD2_ENST00000400519.1_Silent_p.G277G|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000542719.1_Silent_p.G248G	p.G277G			Q9NNW7	TRXR2_HUMAN			11	830	-	Colorectal(54;0.0993)		278					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.831C>T	CCDS42981.1																																																																																				0.622	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		10	545	0	0	0	1	0	10	545					A	19883045	G	A	19883045	2	1	79	1	0	0	0	0	0	0	0	1	16862	958	34	2		2	TXNRD2	22	19883045	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12154	19883045	31421521	20782	31099											
ARVCF	421	broad.mit.edu	37	chr22	19963242	19963242	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttcgcttgggcaggtctaGcgtgtcaaagttccggtcca	13	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19963242G>T	ENST00000263207.3	-	11	2218	c.1927C>A	c.(1927-1929)Cta>Ata	p.L643I	ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I|ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	643					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGGTCTAGCGTGTCAAAG	0.577																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1927-1929)Cta>Ata		armadillo repeat gene deleted in velocardiofacial syndrome							163	115	131					22																	19963242		2202	4300	6502	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19963242G>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1927C>A	22.37:g.19963242G>T	ENSP00000263207:p.Leu643Ile					ARVCF_ENST00000344269.3_Missense_Mutation_p.L580I|ARVCF_ENST00000401994.1_Missense_Mutation_p.L580I|ARVCF_ENST00000406259.1_Missense_Mutation_p.L637I|ARVCF_ENST00000406522.1_Missense_Mutation_p.L574I	p.L643I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			11	2218	-	Colorectal(54;0.0993)		643					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1927C>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	8.564	0.878517	0.17395	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	4.74	1.44	0.22558	Armadillo-type fold (1);	0.152006	0.43747	D	0.000521	T	0.52008	0.1708	N	0.24115	0.695	0.48087	D	0.999584	B;P	0.38551	0.119;0.636	B;B	0.31245	0.109;0.126	T	0.38436	-0.9661	9	.	.	.	-11.7534	8.7502	0.34611	0.2567:0.0:0.7433:0.0	.	643;159	O00192;E7EV58	ARVC_HUMAN;.	I	643;580;580;574;637	ENSP00000263207:L643I;ENSP00000342042:L580I;ENSP00000384341:L580I;ENSP00000384732:L574I;ENSP00000385444:L637I	.	L	-	1	2	ARVCF	18343242	0.925000	0.31364	0.988000	0.46212	0.963000	0.63663	1.335000	0.33839	0.305000	0.22832	0.563000	0.77884	CTA		0.577	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		46	205	1	0	7.34454e-26	1	8.44522e-26	46	205					T	19963242	G	T	19963242	3	4	79	1	0	0	0	0	1	0	0	0	1004	962	34	3	997	3	ARVCF	22	19963242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80197	19963242	31341324	20783	31100											
ARVCF	421	broad.mit.edu	37	chr22	19965028	19965028	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggggcccgggctcggcctCctggtacctgtcggccccgg	16	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19965028C>A	ENST00000263207.3	-	9	2071	c.1780G>T	c.(1780-1782)Gag>Tag	p.E594*	ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	594					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCTCGGCCTCCTGGTACCTG	0.667																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(1780-1782)Gag>Tag		armadillo repeat gene deleted in velocardiofacial syndrome							51	58	56					22																	19965028		2203	4300	6503	SO:0001587	stop_gained	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19965028C>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1780G>T	22.37:g.19965028C>A	ENSP00000263207:p.Glu594*					ARVCF_ENST00000344269.3_Nonsense_Mutation_p.E531*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.E531*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.E594*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.E531*	p.E594*	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			9	2071	-	Colorectal(54;0.0993)		594					B7WNV2	Nonsense_Mutation	SNP	ENST00000263207.3	37	c.1780G>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	40	8.382237	0.98786	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	.	.	.	4.05	1.9	0.25705	.	0.159506	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.541	8.6051	0.33769	0.1523:0.7647:0.0:0.083	.	.	.	.	X	594;531;531;531;594	.	.	E	-	1	0	ARVCF	18345028	1.000000	0.71417	0.999000	0.59377	0.600000	0.36913	5.825000	0.69286	0.638000	0.30545	0.563000	0.77884	GAG		0.667	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		75	506	1	0	5.44642e-36	1	6.51243e-36	75	506					A	19965028	C	A	19965028	4	1	79	1	0	0	0	0	0	1	0	0	1004	864	30	3	1152	3	ARVCF	22	19965028	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1786	19965028	31339538	20784	31101											
ARVCF	421	broad.mit.edu	37	chr22	19969241	19969241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtactgtccgagtggtcaccGtcttgacagtcttggtgacc	12	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19969241G>A	ENST00000263207.3	-	5	680	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000487793.1_5'UTR	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	130					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGTGGTCACCGTCTTGACAGT	0.612																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(388-390)aCg>aTg		armadillo repeat gene deleted in velocardiofacial syndrome							31	37	35					22																	19969241		2190	4262	6452	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969241G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.389C>T	22.37:g.19969241G>A	ENSP00000263207:p.Thr130Met					ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Missense_Mutation_p.T67M|ARVCF_ENST00000401994.1_Missense_Mutation_p.T67M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T130M|ARVCF_ENST00000406522.1_Missense_Mutation_p.T67M	p.T130M	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	680	-	Colorectal(54;0.0993)		130					B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.389C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318548	0.81469	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	P	0.54210	0.745	T	0.47548	-0.9109	9	.	.	.	-17.9505	16.9177	0.86155	0.0:0.0:1.0:0.0	.	130	O00192	ARVC_HUMAN	M	130;67;67;67;130	ENSP00000263207:T130M;ENSP00000342042:T67M;ENSP00000384341:T67M;ENSP00000384732:T67M;ENSP00000385444:T130M	.	T	-	2	0	ARVCF	18349241	1.000000	0.71417	0.999000	0.59377	0.811000	0.45836	9.227000	0.95236	2.278000	0.76064	0.551000	0.68910	ACG		0.612	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		76	299	0	0	0	1	0	76	299					A	19969241	G	A	19969241	3	1	79	1	0	0	0	0	1	0	0	0	1004	1145	40	1	2559	1	ARVCF	22	19969241	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4213	19969241	31335325	20785	31102											
DGCR8	54487	broad.mit.edu	37	chr22	20073696	20073696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaccccttcaacttctaCggagcttctcttctctccaa	6	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20073696C>T	ENST00000351989.3	+	2	639	c.210C>T	c.(208-210)taC>taT	p.Y70Y	DGCR8_ENST00000407755.1_Silent_p.Y70Y|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Silent_p.Y70Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	70	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCAACTTCTACGGAGCTTCTC	0.602																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(208-210)taC>taT		DGCR8 microprocessor complex subunit							71	74	73					22																	20073696		2203	4300	6503	SO:0001819	synonymous_variant	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073696C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.210C>T	22.37:g.20073696C>T						DGCR8_ENST00000383024.2_Silent_p.Y70Y|DGCR8_ENST00000407755.1_Silent_p.Y70Y	p.Y70Y	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			2	639	+	Colorectal(54;0.0993)		70			Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	c.210C>T	CCDS13773.1																																																																																				0.602	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			104	431	0	0	0	1	0	104	431					T	20073696	C	T	20073696	2	4	79	1	0	0	0	0	0	0	0	1	4480	547	19	1		1	DGCR8	22	20073696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	104455	20073696	31230870	20786	31103											
DGCR8	54487	broad.mit.edu	37	chr22	20074812	20074812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagagacaagtgtgcagcCgatgatgaccaagattaaaa	12	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20074812C>T	ENST00000351989.3	+	3	1277	c.848C>T	c.(847-849)cCg>cTg	p.P283L	DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L|MIR1306_ENST00000408439.1_RNA|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	283	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGTGCAGCCGATGATGACC	0.527																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(847-849)cCg>cTg		DGCR8 microprocessor complex subunit							148	111	124					22																	20074812		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074812C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.848C>T	22.37:g.20074812C>T	ENSP00000263209:p.Pro283Leu					DGCR8_ENST00000383024.2_Missense_Mutation_p.P283L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P283L	p.P283L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			3	1277	+	Colorectal(54;0.0993)		283			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.848C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604141	0.96626	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.54071	0.73;0.59;0.59	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	M	0.72894	2.215	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.57009	0.811;0.652	T	0.71130	-0.4682	10	0.87932	D	0	-6.7014	20.1743	0.98175	0.0:1.0:0.0:0.0	.	283;283	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	283	ENSP00000263209:P283L;ENSP00000372488:P283L;ENSP00000384726:P283L	ENSP00000263209:P283L	P	+	2	0	DGCR8	18454812	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.873000	0.98535	0.561000	0.74099	CCG		0.527	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			50	247	0	0	0	1	0	50	247					T	20074812	C	T	20074812	3	4	79	1	0	0	0	0	1	0	0	0	4480	652	23	1	854	1	DGCR8	22	20074812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1116	20074812	31229754	20787	31104											
DGCR8	54487	broad.mit.edu	37	chr22	20094192	20094192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagtgaatacgtcatggCgtgtggcaagcacacagtgc	14	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20094192C>T	ENST00000351989.3	+	11	2396	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V|DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	656	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TACGTCATGGCGTGTGGCAAG	0.567																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1966-1968)gCg>gTg		DGCR8 microprocessor complex subunit							128	120	123					22																	20094192		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20094192C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1967C>T	22.37:g.20094192C>T	ENSP00000263209:p.Ala656Val					DGCR8_ENST00000383024.2_Missense_Mutation_p.A623V|DGCR8_ENST00000407755.1_Missense_Mutation_p.A623V	p.A656V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			11	2396	+	Colorectal(54;0.0993)		656			DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1967C>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695684	0.88830	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.75821	-0.97;-0.97;-0.97	5.55	5.55	0.83447	Double-stranded RNA-binding (2);	0.048412	0.85682	D	0.000000	T	0.56366	0.1980	N	0.08118	0	0.52501	D	0.999953	B;P	0.37663	0.44;0.604	B;B	0.31101	0.124;0.052	T	0.65105	-0.6249	10	0.66056	D	0.02	-14.3867	18.2506	0.90002	0.0:1.0:0.0:0.0	.	623;656	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	656;623;623	ENSP00000263209:A656V;ENSP00000372488:A623V;ENSP00000384726:A623V	ENSP00000263209:A656V	A	+	2	0	DGCR8	18474192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.208000	0.77907	2.592000	0.87571	0.591000	0.81541	GCG		0.567	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			42	281	0	0	0	1	0	42	281					T	20094192	C	T	20094192	3	4	79	1	0	0	0	0	1	0	0	0	4480	768	27	1	2005	1	DGCR8	22	20094192	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19380	20094192	31210374	20788	31105											
RANBP1	5902	broad.mit.edu	37	chr22	20112936	20112936	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagccagagctgctggCcatccgcttcctgaatgctg	10	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20112936C>T	ENST00000331821.3	+	4	518	c.416C>T	c.(415-417)gCc>gTc	p.A139V	RANBP1_ENST00000430524.1_Missense_Mutation_p.A49V|RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|SNORA77_ENST00000578179.1_RNA	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	139	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)					GAGCTGCTGGCCATCCGCTTC	0.632																																						ENST00000430524.1																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(145-147)gCc>gTc		RAN binding protein 1							27	24	25					22																	20112936		2201	4298	6499	SO:0001583	missense	5902				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding	g.chr22:20112936C>T	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.416C>T	22.37:g.20112936C>T	ENSP00000327583:p.Ala139Val					RANBP1_ENST00000402752.1_Missense_Mutation_p.A139V|RANBP1_ENST00000331821.3_Missense_Mutation_p.A139V	p.A49V			P43487	RANG_HUMAN			5	977	+	Colorectal(54;0.0993)		139			RanBD1.		Q53EY3	Missense_Mutation	SNP	ENST00000331821.3	37	c.146C>T	CCDS13775.1	.	.	.	.	.	.	.	.	.	.	C	36	5.727931	0.96856	.	.	ENSG00000099901	ENST00000430524;ENST00000402752;ENST00000447917;ENST00000331821;ENST00000411892;ENST00000423859;ENST00000418705;ENST00000448394	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.5	5.5	0.81552	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	T	0.78628	-0.2130	10	0.66056	D	0.02	-26.6123	19.3923	0.94587	0.0:1.0:0.0:0.0	.	139;139;139	B4DE76;Q53EY3;P43487	.;.;RANG_HUMAN	V	49;139;126;139;139;89;89;66	ENSP00000401564:A49V;ENSP00000384925:A139V;ENSP00000327583:A139V;ENSP00000395472:A139V;ENSP00000404298:A89V;ENSP00000413502:A89V;ENSP00000398300:A66V	ENSP00000327583:A139V	A	+	2	0	RANBP1	18492936	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.629000	0.83207	2.588000	0.87417	0.585000	0.79938	GCC		0.632	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882		17	60	0	0	0	1	0	17	60					T	20112936	C	T	20112936	3	4	79	1	0	0	0	0	1	0	0	0	13075	739	26	2	430	2	RANBP1	22	20112936	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18744	20112936	31191630	20789	31106											
ZDHHC8	29801	broad.mit.edu	37	chr22	20130691	20130691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accctacctgcatcctggggCaacgggcgacccgccacggc	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20130691C>T	ENST00000334554.7	+	10	1679	c.1538C>T	c.(1537-1539)gCa>gTa	p.A513V	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	513					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)					CATCCTGGGGCAACGGGCGAC	0.721																																						ENST00000334554.7																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20						c.(1537-1539)gCa>gTa		zinc finger, DHHC-type containing 8							25	28	27					22																	20130691		2198	4287	6485	SO:0001583	missense	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20130691C>T	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.1538C>T	22.37:g.20130691C>T	ENSP00000334490:p.Ala513Val					ZDHHC8_ENST00000405930.3_Missense_Mutation_p.A513V|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.A421V	p.A513V	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN			10	1679	+	Colorectal(54;0.0993)		513					Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	ENST00000334554.7	37	c.1538C>T	CCDS13776.1	.	.	.	.	.	.	.	.	.	.	.	9.033	0.987662	0.18966	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72282	1.37;-0.64;1.34	4.79	-1.64	0.08318	.	2.240760	0.01898	N	0.039000	T	0.55210	0.1906	L	0.29908	0.895	0.19575	N	0.999962	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.002;0.008;0.001	T	0.25882	-1.0119	10	0.17832	T	0.49	.	4.9567	0.14044	0.0:0.233:0.1772:0.5898	.	421;513;513	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	V	513;421;513	ENSP00000334490:A513V;ENSP00000317804:A421V;ENSP00000384716:A513V	ENSP00000317804:A421V	A	+	2	0	ZDHHC8	18510691	0.000000	0.05858	0.025000	0.17156	0.312000	0.27988	-0.092000	0.11129	0.120000	0.18254	0.491000	0.48974	GCA		0.721	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		79	347	0	0	0	1	0	79	347					T	20130691	C	T	20130691	3	4	79	1	0	0	0	0	1	0	0	0	17674	710	25	2	1576	2	ZDHHC8	22	20130691	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17755	20130691	31173875	20790	31107											
RTN4R	65078	broad.mit.edu	37	chr22	20230563	20230563	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgggctcattgtagcatacGcaggcacctgggcatggggc	15	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20230563G>A	ENST00000043402.7	-	2	531	c.93C>T	c.(91-93)tgC>tgT	p.C31C	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	31	LRRNT.				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)					TGTAGCATACGCAGGCACCTG	0.667																																						ENST00000043402.7																			0				lung(1)|ovary(1)|prostate(1)	3						c.(91-93)tgC>tgT		reticulon 4 receptor							24	23	23					22																	20230563		2191	4268	6459	SO:0001819	synonymous_variant	65078				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	g.chr22:20230563G>A	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.93C>T	22.37:g.20230563G>A						RTN4R_ENST00000469601.1_5'UTR	p.C31C	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN			2	531	-	Colorectal(54;0.0993)		31			LRRNT.		D3DX28	Silent	SNP	ENST00000043402.7	37	c.93C>T	CCDS13777.1	.	.	.	.	.	.	.	.	.	.	G	0.746	-0.774633	0.02951	.	.	ENSG00000040608	ENST00000416372;ENST00000425986	.	.	.	4.65	-9.3	0.00649	.	.	.	.	.	T	0.60625	0.2283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70382	-0.4887	4	.	.	.	.	15.0807	0.72113	0.6639:0.0:0.3361:0.0	.	.	.	.	V	51;117	.	.	A	-	2	0	RTN4R	18610563	0.000000	0.05858	0.378000	0.26068	0.161000	0.22273	-4.388000	0.00242	-2.350000	0.00617	-2.488000	0.00195	GCG		0.667	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2			52	201	0	0	0	1	0	52	201					A	20230563	G	A	20230563	2	1	79	1	0	0	0	0	0	0	0	1	13780	1079	38	1		1	RTN4R	22	20230563	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	99872	20230563	31074003	20791	31108											
RIMBP3	85376	broad.mit.edu	37	chr22	20458364	20458364	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggggtctggagaggcCctgcttccccatgctctgca	13	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20458364C>A	ENST00000426804.1	-	1	3422	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	980										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAGAGGCCCTGCTTCCCC	0.587																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(2938-2940)Ggc>Tgc		RIMS binding protein 3							1	2	2					22																	20458364		989	2429	3418	SO:0001583	missense	85376							g.chr22:20458364C>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2938G>T	22.37:g.20458364C>A	ENSP00000391564:p.Gly980Cys						p.G980C	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	3422	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.2938G>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424295	0.43020	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.31769	1.48	3.32	1.14	0.20703	.	1.026650	0.07715	N	0.942781	T	0.47229	0.1434	M	0.62723	1.935	0.26803	N	0.96916	D	0.89917	1.0	D	0.75020	0.985	T	0.26815	-1.0092	10	0.87932	D	0	-7.5139	3.5877	0.07977	0.0:0.5385:0.2174:0.2441	.	886	Q9UFD9	RIM3A_HUMAN	C	886;980	ENSP00000391564:G980C	ENSP00000347318:G886C	G	-	1	0	RIMBP3	18838364	0.678000	0.27586	0.003000	0.11579	0.022000	0.10575	4.016000	0.57159	0.223000	0.20920	0.398000	0.26397	GGC		0.587	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		11	111	1	0	3.45872e-05	1	3.53336e-05	11	111					A	20458364	C	A	20458364	3	1	79	1	0	0	0	0	1	0	0	0	13414	623	22	3	1985	3	RIMBP3	22	20458364	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227801	20458364	30846202	20792	31109											
RIMBP3	85376	broad.mit.edu	37	chr22	20459530	20459530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtcgccgcgccggggccGcctgcgcgcccagctcctgg	15	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20459530G>A	ENST00000426804.1	-	1	2256	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	591										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CGCCGGGGCCGCCTGCGCGCC	0.746																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1771-1773)gCg>gTg		RIMS binding protein 3							6	7	7					22																	20459530		1771	3739	5510	SO:0001583	missense	85376							g.chr22:20459530G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1772C>T	22.37:g.20459530G>A	ENSP00000391564:p.Ala591Val						p.A591V	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	2256	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.1772C>T	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	G	8.256	0.810155	0.16537	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.14893	2.47	2.69	1.65	0.23941	.	0.207420	0.31673	N	0.007255	T	0.10465	0.0256	L	0.34521	1.04	0.22811	N	0.998706	B	0.14805	0.011	B	0.12156	0.007	T	0.19943	-1.0290	10	0.33940	T	0.23	-5.7485	4.7487	0.13050	0.3027:0.0:0.6973:0.0	.	497	Q9UFD9	RIM3A_HUMAN	V	497;591	ENSP00000391564:A591V	ENSP00000347318:A497V	A	-	2	0	RIMBP3	18839530	0.300000	0.24435	0.269000	0.24586	0.131000	0.20780	0.557000	0.23454	0.691000	0.31592	0.184000	0.17185	GCG		0.746	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		8	61	0	0	0	1	0	8	61					A	20459530	G	A	20459530	3	1	79	1	0	0	0	0	1	0	0	0	13414	1087	38	1	3151	1	RIMBP3	22	20459530	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1166	20459530	30845036	20793	31110											
KLHL22	84861	broad.mit.edu	37	chr22	20800760	20800760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctcctgtatccggcatcGttgttgctgcccccgatcac	8	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20800760G>A	ENST00000328879.4	-	6	1665	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	KLHL22_ENST00000440659.2_Silent_p.N360N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	503					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)			ATCCGGCATCGTTGTTGCTGC	0.597																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1507-1509)aaC>aaT		kelch-like family member 22							86	70	76					22																	20800760		2203	4300	6503	SO:0001819	synonymous_variant	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20800760G>A		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.1509C>T	22.37:g.20800760G>A						KLHL22_ENST00000440659.2_Silent_p.N360N	p.N503N	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		6	1665	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	503					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Silent	SNP	ENST00000328879.4	37	c.1509C>T	CCDS13780.1																																																																																				0.597	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		28	152	0	0	0	1	0	28	152					A	20800760	G	A	20800760	2	1	79	1	0	0	0	0	0	0	0	1	8407	1136	40	1		1	KLHL22	22	20800760	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	341230	20800760	30503806	20794	31111											
KLHL22	84861	broad.mit.edu	37	chr22	20819860	20819860	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaatggataatttctgGgatctgcagagagaatgaca	12	5	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20819860G>A	ENST00000328879.4	-	4	553	c.397C>T	c.(397-399)Cca>Tca	p.P133S	KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	133					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)			ATAATTTCTGGGATCTGCAGA	0.522																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-399)Cca>Tca		kelch-like family member 22							46	49	48					22																	20819860		2203	4298	6501	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819860G>A		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.397C>T	22.37:g.20819860G>A	ENSP00000331682:p.Pro133Ser					KLHL22_ENST00000440659.2_5'UTR	p.P133S	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	553	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	133					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.397C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	G	5.913	0.352446	0.11182	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.43	5.43	0.79202	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.228496	0.47093	D	0.000260	T	0.43700	0.1259	N	0.13352	0.335	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.37150	-0.9718	10	0.06494	T	0.89	.	10.2156	0.43166	0.0903:0.0:0.9097:0.0	.	133	Q53GT1	KLH22_HUMAN	S	133;56;165;133;167	ENSP00000331682:P133S;ENSP00000400095:P56S;ENSP00000403999:P165S;ENSP00000398616:P133S;ENSP00000397882:P167S	ENSP00000331682:P133S	P	-	1	0	KLHL22	19149860	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.144000	0.58057	2.555000	0.86185	0.655000	0.94253	CCA		0.522	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		58	252	0	0	0	1	0	58	252					A	20819860	G	A	20819860	3	1	79	1	0	0	0	0	1	0	0	0	8407	1232	43	2	1523	2	KLHL22	22	20819860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19100	20819860	30484706	20795	31112											
KLHL22	84861	broad.mit.edu	37	chr22	20843290	20843290	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaagtaatcgcaggacGcagccagcaggatgcgatgg	14	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20843290G>A	ENST00000328879.4	-	2	365	c.209C>T	c.(208-210)gCg>gTg	p.A70V	KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)			ATCGCAGGACGCAGCCAGCAG	0.552																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(208-210)gCg>gTg		kelch-like family member 22							57	45	49					22																	20843290		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20843290G>A		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.209C>T	22.37:g.20843290G>A	ENSP00000331682:p.Ala70Val					KLHL22_ENST00000470335.1_5'UTR|KLHL22_ENST00000440659.2_5'UTR	p.A70V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		2	365	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	70			BTB.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.209C>T	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	g	16.15	3.041455	0.55003	.	.	ENSG00000099910	ENST00000328879;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430;ENST00000423364	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.14	5.14	0.70334	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87845	0.6280	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89986	0.4104	10	0.87932	D	0	.	16.1034	0.81203	0.0:0.0:1.0:0.0	.	70	Q53GT1	KLH22_HUMAN	V	70;102;70;104;70;102	ENSP00000331682:A70V;ENSP00000403999:A102V;ENSP00000398616:A70V;ENSP00000397882:A104V;ENSP00000409092:A70V;ENSP00000402746:A102V	ENSP00000331682:A70V	A	-	2	0	KLHL22	19173290	1.000000	0.71417	0.636000	0.29352	0.029000	0.11900	9.123000	0.94387	2.406000	0.81754	0.550000	0.68814	GCG		0.552	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		24	172	0	0	0	1	0	24	172					A	20843290	G	A	20843290	3	1	79	1	0	0	0	0	1	0	0	0	8407	1087	38	1	1719	1	KLHL22	22	20843290	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23430	20843290	30461276	20796	31113											
MED15	51586	broad.mit.edu	37	chr22	20921060	20921060	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttggtgtcacaggcgcaaGctctccctggacaaatgttg	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20921060G>T	ENST00000263205.7	+	7	1066	c.997G>T	c.(997-999)Gct>Tct	p.A333S	MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	333	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)			ACAGGCGCAAGCTCTCCCTGG	0.582																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(997-999)Gct>Tct		mediator complex subunit 15							193	181	185					22																	20921060		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20921060G>T	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.997G>T	22.37:g.20921060G>T	ENSP00000263205:p.Ala333Ser					MED15_ENST00000425759.2_Missense_Mutation_p.A222S|MED15_ENST00000382974.2_Missense_Mutation_p.A262S|MED15_ENST00000541476.1_Missense_Mutation_p.A307S|MED15_ENST00000542773.1_Missense_Mutation_p.A138S|MED15_ENST00000406969.1_Missense_Mutation_p.A307S|MED15_ENST00000292733.7_Missense_Mutation_p.A333S|MED15_ENST00000478831.1_3'UTR	p.A333S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	1066	+	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)	333			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.997G>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146195	0.21288	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	T	0.44482	0.92	5.13	1.87	0.25490	Mediator complex, subunit Med15, metazoa (1);	0.675615	0.14883	N	0.292854	T	0.30479	0.0766	L	0.49350	1.555	0.38124	D	0.937955	B;B;B;B;B;B	0.23442	0.005;0.005;0.004;0.004;0.085;0.069	B;B;B;B;B;B	0.24974	0.038;0.038;0.022;0.022;0.057;0.055	T	0.08576	-1.0715	10	0.12430	T	0.62	.	5.0251	0.14381	0.2548:0.155:0.5902:0.0	.	279;352;307;333;333;262	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;.;MED15_HUMAN;.	S	222;333;138;333;307;262;307;279	ENSP00000263205:A333S	ENSP00000263205:A333S	A	+	1	0	MED15	19251060	0.790000	0.28787	0.992000	0.48379	0.121000	0.20230	2.198000	0.42705	0.390000	0.25115	-0.136000	0.14681	GCT		0.582	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		137	648	1	0	1.207e-77	1	1.54108e-77	137	648					T	20921060	G	T	20921060	3	4	79	1	0	0	0	0	1	0	0	0	9474	971	34	3	1023	3	MED15	22	20921060	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	77770	20921060	30383506	20797	31114											
MED15	51586	broad.mit.edu	37	chr22	20937634	20937634	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cagacagaaaaaaggacctgAgtaagatgaagagccttctg	11	7	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20937634A>C	ENST00000263205.7	+	13	1759	c.1690A>C	c.(1690-1692)Agt>Cgt	p.S564R	MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000406969.1_Missense_Mutation_p.S498R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	564					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)			AAAGGACCTGAGTAAGATGAA	0.592																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1690-1692)Agt>Cgt		mediator complex subunit 15							112	118	116					22																	20937634		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937634A>C	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.1690A>C	22.37:g.20937634A>C	ENSP00000263205:p.Ser564Arg					MED15_ENST00000425759.2_Missense_Mutation_p.S413R|MED15_ENST00000382974.2_Missense_Mutation_p.S453R|MED15_ENST00000541476.1_Missense_Mutation_p.S498R|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.S498R|MED15_ENST00000292733.7_Missense_Mutation_p.S524R	p.S564R	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		13	1759	+	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)	564					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1690A>C	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.871776	0.91587	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.7	5.7	0.88788	Mediator complex, subunit Med15, metazoa (1);	0.121832	0.85682	N	0.000000	T	0.77805	0.4185	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.994;0.996;0.951;0.994;0.989;0.999	T	0.80374	-0.1409	9	0.87932	D	0	.	13.922	0.63937	1.0:0.0:0.0:0.0	.	494;543;180;498;524;564	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	R	413;524;564;498;453;498;494	.	ENSP00000263205:S564R	S	+	1	0	MED15	19267634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.883000	0.92426	2.189000	0.69895	0.459000	0.35465	AGT		0.592	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		31	735	0	0	0	1	0	31	735					C	20937634	A	C	20937634	3	2	79	1	0	0	0	0	1	0	0	0	9474	304	11	4	1740	4	MED15	22	20937634	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16574	20937634	30366932	20798	31115											
PI4KA	5297	broad.mit.edu	37	chr22	21087302	21087302	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtcaggtacttcttatctgaGaacatggcggtccaaaattt	9	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21087302G>T	ENST00000572273.1	-	36	4301	c.4071C>A	c.(4069-4071)ttC>ttA	p.F1357L	PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L|PI4KA_ENST00000255882.6_Missense_Mutation_p.F1415L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1357					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)			TCTTATCTGAGAACATGGCGG	0.527																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4243-4245)ttC>ttA		phosphatidylinositol 4-kinase, catalytic, alpha							51	47	48					22																	21087302		2203	4297	6500	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21087302G>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4071C>A	22.37:g.21087302G>T	ENSP00000458238:p.Phe1357Leu					PI4KA_ENST00000414196.3_Missense_Mutation_p.F167L|PI4KA_ENST00000572273.1_Missense_Mutation_p.F1357L	p.F1415L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		36	4331	-	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)	1357					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.4245C>A		.	.	.	.	.	.	.	.	.	.	G	15.96	2.987345	0.53934	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.75938	-0.98	5.55	5.55	0.83447	.	0.163311	0.56097	D	0.000036	T	0.47284	0.1437	N	0.01219	-0.95	0.51482	D	0.999922	B	0.02656	0.0	B	0.04013	0.001	T	0.48768	-0.9006	10	0.37606	T	0.19	-32.5835	12.8034	0.57598	0.075:0.0:0.925:0.0	.	1357	P42356	PI4KA_HUMAN	L	1357;167	ENSP00000402981:F167L	ENSP00000255882:F1357L	F	-	3	2	PI4KA	19417302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.376000	0.44292	2.606000	0.88127	0.557000	0.71058	TTC		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		46	264	1	0	2.76378e-25	1	3.16915e-25	46	264					T	21087302	G	T	21087302	3	4	79	1	0	0	0	0	1	0	0	0	11915	933	33	3	2143	3	PI4KA	22	21087302	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	149668	21087302	30217264	20799	31116											
PI4KA	5297	broad.mit.edu	37	chr22	21105625	21105625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccgtgatccggtagggggCgtcggggatgtcatagtaag	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21105625C>T	ENST00000572273.1	-	27	3165	c.2935G>A	c.(2935-2937)Gcc>Acc	p.A979T	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.A1037T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	979					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)			CGGTAGGGGGCGTCGGGGATG	0.552																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(3109-3111)Gcc>Acc		phosphatidylinositol 4-kinase, catalytic, alpha							131	97	108					22																	21105625		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21105625C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2935G>A	22.37:g.21105625C>T	ENSP00000458238:p.Ala979Thr					PI4KA_ENST00000572273.1_Missense_Mutation_p.A979T	p.A1037T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		27	3195	-	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)	979					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3109G>A		.	.	.	.	.	.	.	.	.	.	C	9.450	1.090231	0.20390	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.43	4.36	0.52297	.	0.213702	0.49916	D	0.000136	T	0.11196	0.0273	N	0.00088	-2.19	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45687	-0.9244	9	0.02654	T	1	-15.003	14.7651	0.69632	0.0:0.9208:0.0:0.0792	.	979	P42356	PI4KA_HUMAN	T	979	.	ENSP00000255882:A979T	A	-	1	0	PI4KA	19435625	0.998000	0.40836	0.644000	0.29465	0.917000	0.54804	3.456000	0.53000	2.825000	0.97269	0.655000	0.94253	GCC		0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		33	194	0	0	0	1	0	33	194					T	21105625	C	T	21105625	3	4	79	1	0	0	0	0	1	0	0	0	11915	768	27	1	3315	1	PI4KA	22	21105625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	18323	21105625	30198941	20800	31117											
SERPIND1	3053	broad.mit.edu	37	chr22	21133946	21133947	+	Frame_Shift_Ins	INS	-	-	T													tgctgggaacatcctccagcINStttttcatggcaagagccgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21133946_21133947insT	ENST00000215727.5	+	2	629_630	c.346_347insT	c.(346-348)cttfs	p.L116fs	PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.L116fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	116					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CATCCTCCAGCTTTTTCATGGC	0.5																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(346-348)tttfs		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)																																			SO:0001589	frameshift_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133946_21133947insT	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.351dupT	22.37:g.21133951_21133951dupT	ENSP00000215727:p.Leu116fs					SERPIND1_ENST00000406799.1_Frame_Shift_Ins_p.F116fs|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	p.F116fs	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	629_630	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	116					B2RAI1|D3DX34|Q6IBZ5	Frame_Shift_Ins	INS	ENST00000215727.5	37	c.346_347insT	CCDS13783.1																																																																																				0.5	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		31	303						31	303	---	---	---	---	T	21133947	-	T	21133946	7	5	79	1	0	1	1	0	0	0	0	0	14160	797	28	0	348	0	SERPIND1	22	21133946	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	28321	21133946	30170620	20801	31118											
SERPIND1	3053	broad.mit.edu	37	chr22	21134137	21134137	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acccatgaacaagtgcactcGattttgcattttaaagactt	6	9	0	2	rs369334872		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21134137G>A	ENST00000215727.5	+	2	820	c.537G>A	c.(535-537)tcG>tcA	p.S179S	SERPIND1_ENST00000406799.1_Silent_p.S179S|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	179					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	AAGTGCACTCGATTTTGCATT	0.433																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(535-537)tcG>tcA		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)	G	,	0,4406		0,0,2203	106	104	104		537,	-11.9	0	22		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	SERPIND1,PI4KA	NM_000185.3,NM_058004.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	179/500,	21134137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21134137G>A	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.537G>A	22.37:g.21134137G>A						PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.S179S|PI4KA_ENST00000572273.1_Intron	p.S179S	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	820	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	179					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.537G>A	CCDS13783.1																																																																																				0.433	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		87	352	0	0	0	1	0	87	352					A	21134137	G	A	21134137	2	1	79	1	0	0	0	0	0	0	0	1	14160	1045	37	1		1	SERPIND1	22	21134137	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	21134137	30170429	20802	31119											
SERPIND1	3053	broad.mit.edu	37	chr22	21141285	21141285	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaccgcccctttcttttCctcatctacgagcatcgcac	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21141285C>T	ENST00000215727.5	+	5	1714	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	SERPIND1_ENST00000406799.1_Silent_p.F477F|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CCTTTCTTTTCCTCATCTACG	0.592																																						ENST00000215727.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1429-1431)ttC>ttT		serpin peptidase inhibitor, clade D (heparin cofactor), member 1	Ardeparin(DB00407)						117	90	99					22																	21141285		2203	4300	6503	SO:0001819	synonymous_variant	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21141285C>T	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"Serine (or cysteine) peptidase inhibitors"	4838	protein-coding gene	gene with protein product	"heparin cofactor II"	142360	"serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.1431C>T	22.37:g.21141285C>T						PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.F477F|PI4KA_ENST00000572273.1_Intron	p.F477F	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		5	1714	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	477					B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	ENST00000215727.5	37	c.1431C>T	CCDS13783.1																																																																																				0.592	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		84	384	0	0	0	1	0	84	384					T	21141285	C	T	21141285	2	4	79	1	0	0	0	0	0	0	0	1	14160	854	30	2		2	SERPIND1	22	21141285	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7148	21141285	30163281	20803	31120											
PI4KA	5297	broad.mit.edu	37	chr22	21150489	21150489	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcgcttcccctccagcCccagctgcacaaacaactcc	6	20	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21150489C>T	ENST00000572273.1	-	18	2278	c.2048G>A	c.(2047-2049)gGg>gAg	p.G683E	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.G741E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	683					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)			CCCCTCCAGCCCCAGCTGCAC	0.587																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(2221-2223)gGg>gAg		phosphatidylinositol 4-kinase, catalytic, alpha							91	66	75					22																	21150489		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21150489C>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2048G>A	22.37:g.21150489C>T	ENSP00000458238:p.Gly683Glu					PI4KA_ENST00000572273.1_Missense_Mutation_p.G683E	p.G741E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		18	2308	-	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)	683					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.2222G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.073799	0.94000	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83935	0.0308	9	0.87932	D	0	-24.2467	17.6482	0.88154	0.0:1.0:0.0:0.0	.	683	P42356	PI4KA_HUMAN	E	683	.	ENSP00000255882:G683E	G	-	2	0	PI4KA	19480489	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.597000	0.82733	2.402000	0.81655	0.591000	0.81541	GGG		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		23	157	0	0	0	1	0	23	157					T	21150489	C	T	21150489	3	4	79	1	0	0	0	0	1	0	0	0	11915	623	22	2	4238	2	PI4KA	22	21150489	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9204	21150489	30154077	20804	31121											
SNAP29	9342	broad.mit.edu	37	chr22	21224631	21224631	+	Missense_Mutation	SNP	G	G	A													ctcggtttccccaggagctcGcccgtcagcgaggagtcctg					rs146502130	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	ENST00000215730.7	+	2	372	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	82					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			CCAGGAGCTCGCCCGTCAGCG	0.532																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(244-246)Gcc>Acc		synaptosomal-associated protein, 29kDa		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81	74	77		244	3.4	0.3	22	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNAP29	NM_004782.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	82/259	21224631	2,13004	2203	4300	6503	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21224631G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.244G>A	22.37:g.21224631G>A	ENSP00000215730:p.Ala82Thr						p.A82T	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		2	372	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	82						Missense_Mutation	SNP	ENST00000215730.7	37	c.244G>A	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651895	0.29336	2.27E-4	1.16E-4	ENSG00000099940	ENST00000215730	T	0.76839	-1.05	5.58	3.37	0.38596	Target SNARE coiled-coil domain (1);	0.328618	0.32120	N	0.006545	T	0.60625	0.2283	L	0.27053	0.805	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.41016	-0.9532	10	0.18276	T	0.48	-14.9797	7.7116	0.28682	0.191:0.1277:0.6814:0.0	.	82	O95721	SNP29_HUMAN	T	82	ENSP00000215730:A82T	ENSP00000215730:A82T	A	+	1	0	SNAP29	19554631	0.017000	0.18338	0.282000	0.24776	0.226000	0.24999	0.542000	0.23222	1.357000	0.45904	0.591000	0.81541	GCC		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		69	305	0	0	0	1	0	69	305					A	21224631	G	A	21224631	3	1	79	1	0	0	0	0	1	0	0	0	14881	1087	38	1	250	1	SNAP29	22	21224631	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	74142	21224631	30079935	20805	31122	203	2									
SNAP29	9342	broad.mit.edu	37	chr22	21224637	21224637	+	Nonsense_Mutation	SNP	C	C	T													ttccccaggagctcgcccgtCagcgaggagtcctggagcgc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	ENST00000215730.7	+	2	378	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	84					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			GCTCGCCCGTCAGCGAGGAGT	0.532																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(250-252)Cag>Tag		synaptosomal-associated protein, 29kDa							87	79	82					22																	21224637		2203	4300	6503	SO:0001587	stop_gained	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21224637C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.250C>T	22.37:g.21224637C>T	ENSP00000215730:p.Gln84*						p.Q84*	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		2	378	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	84						Nonsense_Mutation	SNP	ENST00000215730.7	37	c.250C>T	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	34	5.344017	0.95807	.	.	ENSG00000099940	ENST00000215730	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.9277	19.5775	0.95450	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000215730:Q84X	Q	+	1	0	SNAP29	19554637	1.000000	0.71417	0.993000	0.49108	0.662000	0.39071	7.747000	0.85070	2.625000	0.88918	0.591000	0.81541	CAG		0.532	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		57	342	0	0	0	1	0	57	342					T	21224637	C	T	21224637	4	4	79	1	0	0	0	0	0	1	0	0	14881	827	29	2	256	2	SNAP29	22	21224637	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6	21224637	30079929	20806	31123	203	2									
SNAP29	9342	broad.mit.edu	37	chr22	21242053	21242053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaagatgacattcttgacCggctgacaaccaaagtggac	10	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	ENST00000215730.7	+	5	834	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	AC007308.7_ENST00000608856.1_RNA	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	236	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			CATTCTTGACCGGCTGACAAC	0.468																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(706-708)Cgg>Tgg		synaptosomal-associated protein, 29kDa							150	132	138					22																	21242053		2203	4300	6503	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21242053C>T	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.706C>T	22.37:g.21242053C>T	ENSP00000215730:p.Arg236Trp						p.R236W	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		5	834	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	236			t-SNARE coiled-coil homology.			Missense_Mutation	SNP	ENST00000215730.7	37	c.706C>T	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985515	0.93044	.	.	ENSG00000099940	ENST00000215730;ENST00000439214	.	.	.	5.99	5.99	0.97316	Target SNARE coiled-coil domain (3);	0.175838	0.51477	D	0.000086	D	0.84795	0.5551	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.68621	0.959	D	0.86213	0.1626	9	0.87932	D	0	-10.08	20.0728	0.97731	0.0:1.0:0.0:0.0	.	236	O95721	SNP29_HUMAN	W	236;143	.	ENSP00000215730:R236W	R	+	1	2	SNAP29	19572053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.542000	0.45744	2.840000	0.97914	0.655000	0.94253	CGG		0.468	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		76	341	0	0	0	1	0	76	341					T	21242053	C	T	21242053	3	4	79	1	0	0	0	0	1	0	0	0	14881	643	23	1	724	1	SNAP29	22	21242053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17416	21242053	30062513	20807	31124											
AIFM3	150209	broad.mit.edu	37	chr22	21330996	21330996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actctgtgtctgtggtggagCtggaggagacgcccttcagg	16	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21330996C>T	ENST00000399167.2	+	12	1327	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000333607.6_Silent_p.L363L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000399163.2_Silent_p.L363L	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	363					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTGGTGGAGCTGGAGGAGAC	0.672																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1087-1089)Ctg>Ttg		apoptosis-inducing factor, mitochondrion-associated, 3																																				SO:0001819	synonymous_variant	150209							g.chr22:21330996C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1087C>T	22.37:g.21330996C>T						AIFM3_ENST00000333607.6_Silent_p.L363L|AIFM3_ENST00000405089.1_Silent_p.L369L|AIFM3_ENST00000440238.2_Silent_p.L363L|AIFM3_ENST00000335375.5_Silent_p.L351L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.L363L	p.L363L	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		12	1327	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1087C>T	CCDS13786.1																																																																																				0.672	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		17	83	0	0	0	1	0	17	83					T	21330996	C	T	21330996	2	4	79	1	0	0	0	0	0	0	0	1	428	796	28	2		2	AIFM3	22	21330996	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	88943	21330996	29973570	20808	31125											
AIFM3	150209	broad.mit.edu	37	chr22	21335305	21335305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgacatgtcctggcttacGgggaaaggatcctgagctca	14	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21335305G>A	ENST00000399167.2	+	21	2043	c.1803G>A	c.(1801-1803)acG>acA	p.T601T	AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000405089.1_Silent_p.T600T|AIFM3_ENST00000333607.6_Silent_p.T594T|LZTR1_ENST00000479606.1_Intron|XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000465606.1_3'UTR|LZTR1_ENST00000215739.8_5'Flank|AIFM3_ENST00000335375.5_Silent_p.T582T|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000399163.2_Silent_p.T594T	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	601					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCTGGCTTACGGGGAAAGGAT	0.612																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1801-1803)acG>acA		apoptosis-inducing factor, mitochondrion-associated, 3							79	68	72					22																	21335305		2203	4300	6503	SO:0001819	synonymous_variant	150209							g.chr22:21335305G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1803G>A	22.37:g.21335305G>A						AIFM3_ENST00000333607.6_Silent_p.T594T|AIFM3_ENST00000405089.1_Silent_p.T600T|AIFM3_ENST00000440238.2_Silent_p.T601T|AIFM3_ENST00000335375.5_Silent_p.T582T|LZTR1_ENST00000479606.1_Intron|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.T594T	p.T601T	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		21	2043	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1803G>A	CCDS13786.1																																																																																				0.612	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		36	129	0	0	0	1	0	36	129					A	21335305	G	A	21335305	2	1	79	1	0	0	0	0	0	0	0	1	428	1103	39	1		1	AIFM3	22	21335305	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4309	21335305	29969261	20809	31126											
LZTR1	8216	broad.mit.edu	37	chr22	21345925	21345925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtacccccaggtggacacGcatcccaactgaacacctgc	9	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21345925G>A	ENST00000215739.8	+	9	1159	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	267					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R267H(2)		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)			AGGTGGACACGCATCCCAACT	0.652																																						ENST00000215739.8																			2	Substitution - Missense(2)	p.R267H(2)	upper_aerodigestive_tract(1)|large_intestine(1)	breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(799-801)cGc>cAc		leucine-zipper-like transcription regulator 1							35	26	29					22																	21345925		2202	4292	6494	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21345925G>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.800G>A	22.37:g.21345925G>A	ENSP00000215739:p.Arg267His					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R248H	p.R267H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		9	1159	+	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)	267					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.800G>A	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136480	0.94517	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.67698	-0.28;-0.28	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.053822	0.85682	D	0.000000	T	0.81230	0.4779	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.74023	0.957;0.982;0.947;0.904	D	0.83501	0.0075	10	0.72032	D	0.01	-35.8024	16.1666	0.81759	0.0:0.0:1.0:0.0	.	248;226;267;226	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	226;267;248	ENSP00000215739:R267H;ENSP00000374006:R248H	ENSP00000215739:R267H	R	+	2	0	LZTR1	19675925	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.621000	0.83083	2.409000	0.81822	0.407000	0.27541	CGC		0.652	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		8	61	0	0	0	1	0	8	61					A	21345925	G	A	21345925	3	1	79	1	0	0	0	0	1	0	0	0	9176	1087	38	1	834	1	LZTR1	22	21345925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10620	21345925	29958641	20810	31127											
THAP7	80764	broad.mit.edu	37	chr22	21354375	21354375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggctgcctcggctcgccGcttccagagtaaggcgctgc	14	14	0	1	rs375087817		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21354375G>A	ENST00000215742.4	-	4	898	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.R242W|THAP7-AS1_ENST00000452284.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	242					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCGGCTCGCCGCTTCCAGAGT	0.657																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(724-726)Cgg>Tgg		THAP domain containing 7		G	TRP/ARG,TRP/ARG	2,4390		0,2,2194	15	16	16		724,724	-3.5	1	22		16	0,8546		0,0,4273	no	missense,missense	THAP7	NM_001008695.1,NM_030573.2	101,101	0,2,6467	AA,AG,GG		0.0,0.0455,0.0155	probably-damaging,probably-damaging	242/310,242/310	21354375	2,12936	2196	4273	6469	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354375G>A	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.724C>T	22.37:g.21354375G>A	ENSP00000215742:p.Arg242Trp					THAP7_ENST00000399133.2_Missense_Mutation_p.R242W	p.R242W	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	898	-	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)	242					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.724C>T	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679638	0.68042	4.55E-4	0.0	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.97665	-4.48;-4.48	4.25	-3.45	0.04781	.	0.370399	0.21680	N	0.070723	D	0.94551	0.8245	N	0.14661	0.345	0.42120	D	0.991422	D	0.89917	1.0	D	0.65874	0.939	D	0.90812	0.4702	10	0.87932	D	0	-18.4205	8.6921	0.34273	0.0888:0.0:0.2028:0.7084	.	242	Q9BT49	THAP7_HUMAN	W	242	ENSP00000215742:R242W;ENSP00000382084:R242W	ENSP00000215742:R242W	R	-	1	2	THAP7	19684375	0.948000	0.32251	0.993000	0.49108	0.890000	0.51754	0.147000	0.16202	-0.229000	0.09854	-0.181000	0.13052	CGG		0.657	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		35	133	0	0	0	1	0	35	133					A	21354375	G	A	21354375	3	1	79	1	0	0	0	0	1	0	0	0	15901	1086	38	1	209	1	THAP7	22	21354375	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8450	21354375	29950191	20811	31128											
P2RX6	9127	broad.mit.edu	37	chr22	21380774	21380774	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgcatcccaagcccgActggccgagtgcctcagacg	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21380774A>G	ENST00000413302.2	+	12	1342	c.1194A>G	c.(1192-1194)cgA>cgG	p.R398R	P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000443995.3_Silent_p.R345R|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.R372R			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	398					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										CCCAAGCCCGACTGGCCGAGT	0.632																																						ENST00000413302.2																			0											c.(1192-1194)cgA>cgG		purinergic receptor P2X, ligand-gated ion channel, 6							50	44	46					22																	21380774		2203	4292	6495	SO:0001819	synonymous_variant	9127				muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr22:21380774A>G		CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8538	protein-coding gene	gene with protein product		608077	"purinergic receptor P2X-like 1, orphan receptor"	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689	ENST00000413302.2:c.1194A>G	22.37:g.21380774A>G						P2RX6_ENST00000336296.2_Silent_p.R388R|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.R372R|P2RX6_ENST00000443995.3_Silent_p.R345R	p.R398R			O15547	P2RX6_HUMAN			12	1342	+			398					F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	Silent	SNP	ENST00000413302.2	37	c.1194A>G	CCDS13788.2																																																																																				0.632	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319625.2	NM_005446		10	38	0	0	0	1	0	10	38					G	21380774	A	G	21380774	2	3	79	1	0	0	0	0	0	0	0	1	11386	262	10	4		4	P2RX6	22	21380774	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	26399	21380774	29923792	20812	31129											
SLC7A4	6545	broad.mit.edu	37	chr22	21385522	21385522	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagaaggtgtgattgaGccaggaggacacgcgggctc	18	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21385522G>T	ENST00000382932.2	-	2	647	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	AC002472.11_ENST00000450652.1_RNA|MIR649_ENST00000384843.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	194					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)	GTGTGATTGAGCCAGGAGGAC	0.612																																						ENST00000382932.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(580-582)Ctc>Atc		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						62	59	60					22																	21385522		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21385522G>T	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.580C>A	22.37:g.21385522G>T	ENSP00000372390:p.Leu194Ile					SLC7A4_ENST00000403586.1_Missense_Mutation_p.L194I	p.L194I	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	647	-	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)	194					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.580C>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.230520	0.39399	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.89552	-2.53;-2.53	5.28	1.93	0.25924	Amino acid permease domain (1);	0.204067	0.43110	D	0.000606	D	0.84543	0.5495	L	0.49455	1.56	0.42349	D	0.992363	B	0.25609	0.13	B	0.32211	0.142	T	0.76315	-0.3004	10	0.33940	T	0.23	.	9.0405	0.36314	0.0785:0.279:0.6425:0.0	.	194	O43246	CTR4_HUMAN	I	194	ENSP00000384278:L194I;ENSP00000372390:L194I	ENSP00000372390:L194I	L	-	1	0	SLC7A4	19715522	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	5.135000	0.64777	0.288000	0.22398	-0.258000	0.10820	CTC		0.612	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		59	236	1	0	7.50695e-29	1	8.75429e-29	59	236					T	21385522	G	T	21385522	3	4	79	1	0	0	0	0	1	0	0	0	14749	971	34	3	1343	3	SLC7A4	22	21385522	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4748	21385522	29919044	20813	31130											
HIC2	23119	broad.mit.edu	37	chr22	21800714	21800714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccttcaagtgttcggtctgCgagaagacctacaaggaccc	10	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800714C>T	ENST00000443632.2	+	2	1902	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	HIC2_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_Silent_p.C510C			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	510					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)				GTTCGGTCTGCGAGAAGACCT	0.642																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1528-1530)tgC>tgT		hypermethylated in cancer 2							46	48	48					22																	21800714		2203	4300	6503	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800714C>T	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.1530C>T	22.37:g.21800714C>T						HIC2_ENST00000407598.2_Silent_p.C510C|HIC2_ENST00000407464.2_Silent_p.C510C	p.C510C			Q96JB3	HIC2_HUMAN			2	1902	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	510					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.1530C>T	CCDS13789.1																																																																																				0.642	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			61	344	0	0	0	1	0	61	344					T	21800714	C	T	21800714	2	4	79	1	0	0	0	0	0	0	0	1	7132	776	27	1		1	HIC2	22	21800714	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	415192	21800714	29503852	20814	31131											
HIC2	23119	broad.mit.edu	37	chr22	21800868	21800868	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgggcctgaagcccttcGcctgcgatgagtgtggcatg	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800868G>A	ENST00000443632.2	+	2	2056	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	562					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)				GAAGCCCTTCGCCTGCGATGA	0.632																																					NSCLC(23;437 858 2282 27947 40366)	ENST00000443632.2																			0				NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1684-1686)Gcc>Acc		hypermethylated in cancer 2							73	60	64					22																	21800868		2203	4300	6503	SO:0001583	missense	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800868G>A	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.1684G>A	22.37:g.21800868G>A	ENSP00000387757:p.Ala562Thr					HIC2_ENST00000407598.2_Missense_Mutation_p.A562T|HIC2_ENST00000407464.2_Missense_Mutation_p.A562T	p.A562T			Q96JB3	HIC2_HUMAN			2	2056	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	562					Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Missense_Mutation	SNP	ENST00000443632.2	37	c.1684G>A	CCDS13789.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370930	0.82573	.	.	ENSG00000169635	ENST00000407464;ENST00000407598;ENST00000443632	T;T;T	0.14893	2.47;2.47;2.47	4.79	4.79	0.61399	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	0.25457	0.0619	N	0.16266	0.395	0.58432	D	0.999991	D	0.89917	1.0	D	0.76071	0.987	T	0.04373	-1.0956	10	0.34782	T	0.22	.	15.4344	0.75133	0.0:0.0:1.0:0.0	.	562	Q96JB3	HIC2_HUMAN	T	562	ENSP00000385319:A562T;ENSP00000384889:A562T;ENSP00000387757:A562T	ENSP00000385319:A562T	A	+	1	0	HIC2	20130868	1.000000	0.71417	0.994000	0.49952	0.868000	0.49771	7.545000	0.82128	2.503000	0.84419	0.558000	0.71614	GCC		0.632	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			32	287	0	0	0	1	0	32	287					A	21800868	G	A	21800868	3	1	79	1	0	0	0	0	1	0	0	0	7132	1087	38	1	1690	1	HIC2	22	21800868	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	154	21800868	29503698	20815	31132											
CCDC116	164592	broad.mit.edu	37	chr22	21988516	21988516	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacagtggtggagaaggCgactgagcgcatggctgcca	18	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21988516C>T	ENST00000292779.3	+	3	439	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_ENST00000607942.1_Missense_Mutation_p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	93								p.A93V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTGGAGAAGGCGACTGAGCGC	0.622																																						ENST00000292779.3																			1	Substitution - Missense(1)	p.A93V(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22						c.(277-279)gCg>gTg		coiled-coil domain containing 116							116	104	108					22																	21988516		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21988516C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.278C>T	22.37:g.21988516C>T	ENSP00000292779:p.Ala93Val						p.A93V	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN			3	439	+	Colorectal(54;0.105)		93					Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.278C>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839446	0.71488	.	.	ENSG00000161180	ENST00000292779	T	0.21932	1.98	4.55	4.55	0.56014	.	0.276192	0.25783	N	0.028334	T	0.37489	0.1005	L	0.47190	1.495	0.20563	N	0.999887	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.06588	-1.0818	9	.	.	.	-82.0264	12.9811	0.58564	0.0:1.0:0.0:0.0	.	93;93	B7Z7H5;Q8IYX3-2	.;.	V	93	ENSP00000292779:A93V	.	A	+	2	0	CCDC116	20318516	0.954000	0.32549	0.325000	0.25375	0.617000	0.37484	3.713000	0.54882	2.521000	0.84997	0.585000	0.79938	GCG		0.622	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		81	409	0	0	0	1	0	81	409					T	21988516	C	T	21988516	3	4	79	1	0	0	0	0	1	0	0	0	2760	768	27	1	284	1	CCDC116	22	21988516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	187648	21988516	29316050	20816	31133											
SDF2L1	23753	broad.mit.edu	37	chr22	21998296	21998296	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcttccagcatgtgggCacctctgtgttcctgtcagt	12	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21998296C>T	ENST00000248958.4	+	3	574	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KB-1440D3.14_ENST00000609038.1_lincRNA	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	166	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				prostate(1)	1	Colorectal(54;0.105)					AGCATGTGGGCACCTCTGTGT	0.622											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000248958.4																			0				prostate(1)	1						c.(496-498)ggC>ggT		stromal cell-derived factor 2-like 1							116	79	92					22																	21998296		2203	4300	6503	SO:0001819	synonymous_variant	23753					endoplasmic reticulum lumen|membrane		g.chr22:21998296C>T		CCDS13792.1	22q11.21	2008-07-01			ENSG00000128228	ENSG00000128228			10676	protein-coding gene	gene with protein product	"dihydropyrimidinase-like 2", "PWP1-interacting protein 8"	607551				10591208, 11162531	Standard	NM_022044		Approved	AP000553.C22.4, OTTHUMT00000075032	uc002zvf.3	Q9HCN8	OTTHUMG00000150820	ENST00000248958.4:c.498C>T	22.37:g.21998296C>T			OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.G166G	NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN			3	574	+	Colorectal(54;0.105)		166			MIR 3.		A2RUD3|Q9BRI5	Silent	SNP	ENST00000248958.4	37	c.498C>T	CCDS13792.1																																																																																				0.622	SDF2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320197.1	NM_022044		31	173	0	0	0	1	0	31	173					T	21998296	C	T	21998296	2	4	79	1	0	0	0	0	0	0	0	1	14011	697	25	2		2	SDF2L1	22	21998296	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	9780	21998296	29306270	20817	31134											
PPIL2	23759	broad.mit.edu	37	chr22	22039067	22039067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggccaaacaggacccGtcttattatctgaaaaatac	8	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000412327.1_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P					peptidylprolyl isomerase (cyclophilin)-like 2									p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547																																						ENST00000406385.1																			1	Substitution - coding silent(1)	p.P193P(1)	ovary(1)	endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(577-579)ccG>ccA		peptidylprolyl isomerase (cyclophilin)-like 2							39	39	39					22																	22039067		2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22039067G>A		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.579G>A	22.37:g.22039067G>A						PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000335025.7_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000412327.1_Silent_p.P193P	p.P193P			Q13356	PPIL2_HUMAN			10	639	+	Colorectal(54;0.105)		193						Silent	SNP	ENST00000335025.8	37	c.579G>A	CCDS13793.1																																																																																				0.547	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			34	197	0	0	0	1	0	34	197					A	22039067	G	A	22039067	2	1	79	1	0	0	0	0	0	0	0	1	12374	1132	40	1		1	PPIL2	22	22039067	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	40771	22039067	29265499	20818	31135											
VPREB1	7441	broad.mit.edu	37	chr22	22599398	22599398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagccgccggccatGtcctcggcccttggaaccac	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22599398G>A	ENST00000403807.3	+	2	226	c.87G>A	c.(85-87)atG>atA	p.M29I	VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I			P12018	VPREB_HUMAN	pre-B lymphocyte 1	29	Framework-1.|Ig-like V-type.									large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGCCGGCCATGTCCTCGGCCC	0.642																																						ENST00000403807.3																			0				large_intestine(1)|liver(1)|lung(6)|skin(1)	9						c.(85-87)atG>atA		pre-B lymphocyte 1							80	79	79					22																	22599398		2203	4300	6503	SO:0001583	missense	7441				immune response	extracellular region	antigen binding|protein binding	g.chr22:22599398G>A	M34927	CCDS13798.1	22q11.2	2014-05-16	2008-09-12		ENSG00000169575	ENSG00000169575		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	12709	protein-coding gene	gene with protein product		605141				3139558	Standard	NM_007128		Approved	VpreB, CD179A	uc002zvx.1	P12018	OTTHUMG00000151042	ENST00000403807.3:c.87G>A	22.37:g.22599398G>A	ENSP00000385361:p.Met29Ile					VPREB1_ENST00000302273.2_Missense_Mutation_p.M28I	p.M29I			P12018	VPREB_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	226	+	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)	29			Framework-1.|Ig-like V-type.		B5MCG2	Missense_Mutation	SNP	ENST00000403807.3	37	c.87G>A	CCDS13798.1	.	.	.	.	.	.	.	.	.	.	g	10.67	1.415047	0.25552	.	.	ENSG00000169575	ENST00000403807;ENST00000302273	T;T	0.63096	-0.02;-0.02	3.61	-3.22	0.05125	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.358280	0.04993	N	0.467656	T	0.52158	0.1717	L	0.41356	1.27	0.09310	N	1	B	0.27117	0.168	B	0.31946	0.138	T	0.50466	-0.8825	10	0.46703	T	0.11	.	7.0987	0.25325	0.203:0.5644:0.2326:0.0	.	29	P12018	VPREB_HUMAN	I	29;28	ENSP00000385361:M29I;ENSP00000304590:M28I	ENSP00000304590:M28I	M	+	3	0	VPREB1	20929398	0.456000	0.25744	0.001000	0.08648	0.000000	0.00434	0.678000	0.25277	-0.272000	0.09259	-0.914000	0.02751	ATG		0.642	VPREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321101.1			68	283	0	0	0	1	0	68	283					A	22599398	G	A	22599398	3	1	79	1	0	0	0	0	1	0	0	0	17240	1377	48	2	93	2	VPREB1	22	22599398	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	560331	22599398	28705168	20819	31136											
ZNF280A	129025	broad.mit.edu	37	chr22	22868833	22868833	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagaggacctgatctgtTtcaaatgacaattcacagat	8	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22868833T>G	ENST00000302097.3	-	2	1374	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	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(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)		CCTGATCTGTTTCAAATGACA	0.488																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1120-1122)gaA>gaC		zinc finger protein 280A							101	90	94					22																	22868833		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868833T>G	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.1122A>C	22.37:g.22868833T>G	ENSP00000302855:p.Glu374Asp						p.E374D	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1374	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	374						Missense_Mutation	SNP	ENST00000302097.3	37	c.1122A>C	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451797	0.43531	.	.	ENSG00000169548	ENST00000302097	T	0.28069	1.63	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.34221	0.0890	L	0.46819	1.47	0.22389	N	0.99915	P	0.46706	0.883	P	0.47134	0.539	T	0.11542	-1.0583	9	0.51188	T	0.08	0.4225	11.3489	0.49577	0.0:0.0:0.0:1.0	.	374	P59817	Z280A_HUMAN	D	374	ENSP00000302855:E374D	ENSP00000302855:E374D	E	-	3	2	ZNF280A	21198833	1.000000	0.71417	0.497000	0.27552	0.382000	0.30200	1.081000	0.30791	1.988000	0.58038	0.533000	0.62120	GAA		0.488	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		83	417	0	0	0	1	0	83	417					G	22868833	T	G	22868833	3	3	79	1	0	0	0	0	1	0	0	0	17867	1838	64	4	510	4	ZNF280A	22	22868833	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	269435	22868833	28435733	20820	31137											
GGTLC2	91227	broad.mit.edu	37	chr22	22989491	22989491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtgcccgacgatcatgGtgggccaggacggccaggtc	15	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22989491G>A	ENST00000480559.1	+	3	343	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	GGTLC2_ENST00000448514.1_Missense_Mutation_p.V115M|POM121L1P_ENST00000402027.1_RNA	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	115					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GACGATCATGGTGGGCCAGGA	0.647																																						ENST00000448514.1																			0				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(343-345)Gtg>Atg		gamma-glutamyltransferase light chain 2							59	68	65					22																	22989491		2203	4298	6501	SO:0001583	missense	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22989491G>A	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"Gamma-glutamyltransferases"	18596	protein-coding gene	gene with protein product		612339	"gamma-glutamyltransferase-like 4"	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.343G>A	22.37:g.22989491G>A	ENSP00000419751:p.Val115Met					GGTLC2_ENST00000480559.1_Missense_Mutation_p.V115M	p.V115M			Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	3	343	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	115					A1A516|A2VCM9|Q5NV76|Q6ISH0	Missense_Mutation	SNP	ENST00000480559.1	37	c.343G>A	CCDS13802.2	.	.	.	.	.	.	.	.	.	.	g	9.519	1.107886	0.20714	.	.	ENSG00000100121	ENST00000480559;ENST00000448514	T;T	0.06849	3.25;3.25	.	.	.	.	0.211609	0.40818	N	0.001017	T	0.09335	0.0230	L	0.51853	1.615	0.26742	N	0.970369	P;P	0.41848	0.763;0.763	P;P	0.46208	0.507;0.507	T	0.12372	-1.0550	9	0.45353	T	0.12	-36.1029	3.5811	0.07954	2.0E-4:0.4998:0.4998:2.0E-4	.	115;115	Q14390;B7WND7	GGTL2_HUMAN;.	M	115	ENSP00000419751:V115M;ENSP00000415676:V115M	ENSP00000415676:V115M	V	+	1	0	GGTLC2	21319491	0.908000	0.30866	0.000000	0.03702	0.000000	0.00434	0.392000	0.20801	-0.000000	0.14550	0.000000	0.15137	GTG		0.647	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		55	651	0	0	0	1	0	55	651					A	22989491	G	A	22989491	3	1	79	1	0	0	0	0	1	0	0	0	6395	1261	44	2	353	2	GGTLC2	22	22989491	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120658	22989491	28315075	20821	31138											
GNAZ	2781	broad.mit.edu	37	chr22	23465529	23465529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctactcccacttcacctgcGccaccgacaccagtaacatc	4	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23465529G>A	ENST00000248996.4	+	3	1645	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	327					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CTTCACCTGCGCCACCGACAC	0.542																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(979-981)Gcc>Acc		guanine nucleotide binding protein (G protein), alpha z polypeptide							143	105	118					22																	23465529		2203	4300	6503	SO:0001583	missense	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23465529G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.979G>A	22.37:g.23465529G>A	ENSP00000248996:p.Ala327Thr					RTDR1_ENST00000216036.4_Intron	p.A327T	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	3	1645	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		327					B2R6C1|Q4QRJ6	Missense_Mutation	SNP	ENST00000248996.4	37	c.979G>A	CCDS13804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.944967	0.97134	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.91351	-2.83	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	H	0.98111	4.15	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98609	1.0662	10	0.87932	D	0	.	18.4882	0.90836	0.0:0.0:1.0:0.0	.	327	P19086	GNAZ_HUMAN	T	327;275	ENSP00000248996:A327T	ENSP00000248996:A327T	A	+	1	0	GNAZ	21795529	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.596000	0.98267	2.695000	0.91970	0.655000	0.94253	GCC		0.542	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		55	229	0	0	0	1	0	55	229					A	23465529	G	A	23465529	3	1	79	1	0	0	0	0	1	0	0	0	6543	1087	38	1	985	1	GNAZ	22	23465529	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	476038	23465529	27839037	20822	31139											
RAB36	9609	broad.mit.edu	37	chr22	23488872	23488872	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcgccagcttccctaaGgtagagagtcattacgtctg	10	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23488872G>T	ENST00000263116.2	+	2	307	c.267G>T	c.(265-267)aaG>aaT	p.K89N	RTDR1_ENST00000406876.1_5'Flank|RAB36_ENST00000341989.4_Splice_Site_p.K89N	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	89					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTTCCCTAAGGTAGAGAGTC	0.572																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e2+1		RAB36, member RAS oncogene family							71	61	64					22																	23488872		2203	4300	6503	SO:0001630	splice_region_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23488872G>T	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.267+1G>T	22.37:g.23488872G>T						RAB36_ENST00000341989.4_Splice_Site_p.K89_splice	p.K89_splice	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	2	307	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		89					Q2M390|Q7Z4A9|Q9UHP5	Splice_Site	SNP	ENST00000263116.2	37	c.267_splice	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142038	0.77775	.	.	ENSG00000100228	ENST00000263116;ENST00000341989;ENST00000418881	T;T	0.64803	-0.12;0.26	5.2	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	L	0.55990	1.75	0.80722	D	1	D;P	0.63046	0.992;0.93	P;P	0.59948	0.866;0.552	T	0.71076	-0.4697	10	0.72032	D	0.01	-49.6785	10.3228	0.43775	0.0963:0.0:0.9037:0.0	.	89;89	O95755-2;O95755	.;RAB36_HUMAN	N	89;89;50	ENSP00000263116:K89N;ENSP00000343494:K89N	ENSP00000263116:K89N	K	+	3	2	RAB36	21818872	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.759000	0.62227	2.602000	0.87976	0.650000	0.86243	AAG		0.572	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914	Missense_Mutation	7	238	1	0	0.27861	1	0.278732	7	238					T	23488872	G	T	23488872	5	4	79	1	0	0	0	0	0	0	1	0	12976	1014	35	3	273	3	RAB36	22	23488872	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23343	23488872	27815694	20823	31140											
RAB36	9609	broad.mit.edu	37	chr22	23495220	23495220	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcctcatcccccacagGttttgcaagaatgtttttga	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	ENST00000263116.2	+	5	466	c.426G>A	c.(424-426)agG>agA	p.R142R	RAB36_ENST00000341989.4_Splice_Site_p.G120G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	142					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCCCCCACAGGTTTTGCAAGA	0.478																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e5-1		RAB36, member RAS oncogene family							164	156	158					22																	23495220		2203	4300	6503	SO:0001630	splice_region_variant	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23495220G>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.426-1G>A	22.37:g.23495220G>A						RAB36_ENST00000341989.4_Splice_Site_p.G120_splice	p.R142_splice	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	5	466	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		142					Q2M390|Q7Z4A9|Q9UHP5	Splice_Site	SNP	ENST00000263116.2	37	c.425_splice	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822898	0.50739	.	.	ENSG00000100228	ENST00000420895	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	T	0.61751	0.2372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59139	-0.7510	4	.	.	.	.	10.4969	0.44783	0.0886:0.0:0.9114:0.0	.	.	.	.	I	37	.	.	V	+	1	0	RAB36	21825220	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.501000	0.53325	2.709000	0.92574	0.563000	0.77884	GTT		0.478	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914	Silent	115	404	0	0	0	1	0	115	404					A	23495220	G	A	23495220	5	1	79	1	0	0	0	0	0	0	1	0	12976	1275	44	2	444	2	RAB36	22	23495220	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6348	23495220	27809346	20824	31141											
RGL4	266747	broad.mit.edu	37	chr22	24034358	24034358	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtacagccctgctgtatggCcaggtctgccccttccagga	11	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24034358C>T	ENST00000290691.5	+	1	1311	c.141C>T	c.(139-141)ggC>ggT	p.G47G	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron|GUSBP11_ENST00000455485.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	47					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCTGTATGGCCAGGTCTGCC	0.632																																						ENST00000290691.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(139-141)ggC>ggT		ral guanine nucleotide dissociation stimulator-like 4							100	93	96					22																	24034358		2203	4300	6503	SO:0001819	synonymous_variant	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24034358C>T		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.141C>T	22.37:g.24034358C>T						GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron	p.G47G	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN			1	1311	+			47					Q495L8	Silent	SNP	ENST00000290691.5	37	c.141C>T	CCDS13811.1																																																																																				0.632	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		112	504	0	0	0	1	0	112	504					T	24034358	C	T	24034358	2	4	79	1	0	0	0	0	0	0	0	1	13329	726	26	2		2	RGL4	22	24034358	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	539138	24034358	27270208	20825	31142											
ZNF70	7621	broad.mit.edu	37	chr22	24086756	24086756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcgtagggcttctccccgGtgtggatgatctggtgcctg	14	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24086756G>A	ENST00000341976.3	-	2	1032	c.572C>T	c.(571-573)aCc>aTc	p.T191I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	191					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						CTTCTCCCCGGTGTGGATGAT	0.617																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(571-573)aCc>aTc		zinc finger protein 70							65	57	59					22																	24086756		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086756G>A	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.572C>T	22.37:g.24086756G>A	ENSP00000339314:p.Thr191Ile						p.T191I	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1032	-			191						Missense_Mutation	SNP	ENST00000341976.3	37	c.572C>T	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687932	0.68271	.	.	ENSG00000187792	ENST00000341976	T	0.25749	1.78	3.49	3.49	0.39957	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42494	0.1205	L	0.46947	1.48	0.39116	D	0.961569	D	0.89917	1.0	D	0.79784	0.993	T	0.45673	-0.9245	9	0.87932	D	0	-18.761	13.3553	0.60625	0.0:0.0:1.0:0.0	.	191	Q9UC06	ZNF70_HUMAN	I	191	ENSP00000339314:T191I	ENSP00000339314:T191I	T	-	2	0	ZNF70	22416756	1.000000	0.71417	0.972000	0.41901	0.736000	0.42039	7.233000	0.78125	2.269000	0.75478	0.558000	0.71614	ACC		0.617	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		43	235	0	0	0	1	0	43	235					A	24086756	G	A	24086756	3	1	79	1	0	0	0	0	1	0	0	0	18156	1261	44	2	772	2	ZNF70	22	24086756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52398	24086756	27217810	20826	31143											
VPREB3	29802	broad.mit.edu	37	chr22	24095296	24095296	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgtagtccctgatggtgaCgtgctgggggctgagcgtgc	17	10	0	3	rs146725149	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24095296C>T	ENST00000248948.3	-	2	243	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	47	Ig-like.					endoplasmic reticulum (GO:0005783)				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				CTGATGGTGACGTGCTGGGGG	0.632													C|||	16	0.00319489	0.0121	0.0	5008	,	,		18784	0.0		0.0	False		,,,				2504	0.0					ENST00000248948.3																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(139-141)Gtc>Atc		pre-B lymphocyte 3		C	ILE/VAL	54,4352	53.6+/-89.4	1,52,2150	85	64	71		139	-5.8	0	22	dbSNP_134	71	0,8600		0,0,4300	yes	missense	VPREB3	NM_013378.2	29	1,52,6450	TT,TC,CC		0.0,1.2256,0.4152	benign	47/124	24095296	54,12952	2203	4300	6503	SO:0001583	missense	29802					endoplasmic reticulum		g.chr22:24095296C>T		CCDS13813.1	22q11.23	2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218		"Immunoglobulin superfamily / V-set domain containing"	12710	protein-coding gene	gene with protein product		605017				10702669, 14670953	Standard	NM_013378		Approved	8HS20	uc002zxt.3	Q9UKI3	OTTHUMG00000150738	ENST00000248948.3:c.139G>A	22.37:g.24095296C>T	ENSP00000248948:p.Val47Ile					VPREB3_ENST00000398465.3_Missense_Mutation_p.V31I	p.V47I	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN			2	243	-		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)	47			Ig-like.		B2R587	Missense_Mutation	SNP	ENST00000248948.3	37	c.139G>A	CCDS13813.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	2.301	-0.360116	0.05103	0.012256	0.0	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.32023	1.47;1.5	4.94	-5.77	0.02369	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.857165	0.09939	N	0.736197	T	0.04679	0.0127	N	0.05351	-0.065	0.09310	N	1	P	0.39847	0.691	B	0.31946	0.138	T	0.34527	-0.9825	10	0.02654	T	1	.	1.0886	0.01659	0.2221:0.2842:0.1094:0.3843	.	47	Q9UKI3	VPRE3_HUMAN	I	31;47	ENSP00000381483:V31I;ENSP00000248948:V47I	ENSP00000248948:V47I	V	-	1	0	VPREB3	22425296	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.017000	0.12590	-0.621000	0.05633	-0.534000	0.04291	GTC		0.632	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319879.2	NM_013378		10	143	0	0	0	1	0	10	143					T	24095296	C	T	24095296	3	4	79	1	0	0	0	0	1	0	0	0	17241	536	19	1	236	1	VPREB3	22	24095296	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8540	24095296	27209270	20827	31144											
MMP11	4320	broad.mit.edu	37	chr22	24123083	24123083	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggcagcccatgaatttggCcacgtgctggggctgcagca	15	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24123083C>T	ENST00000215743.3	+	5	706	c.654C>T	c.(652-654)ggC>ggT	p.G218G	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	218					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)	ATGAATTTGGCCACGTGCTGG	0.612																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(652-654)ggC>ggT		matrix metallopeptidase 11 (stromelysin 3)							68	53	58					22																	24123083		2203	4300	6503	SO:0001819	synonymous_variant	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24123083C>T		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.654C>T	22.37:g.24123083C>T						MMP11_ENST00000477567.1_3'UTR	p.G218G	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			5	706	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	218					Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	c.654C>T	CCDS13816.1																																																																																				0.612	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		47	173	0	0	0	1	0	47	173					T	24123083	C	T	24123083	2	4	79	1	0	0	0	0	0	0	0	1	9691	726	26	2		2	MMP11	22	24123083	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27787	24123083	27181483	20828	31145											
SMARCB1	6598	broad.mit.edu	37	chr22	24176329	24176329	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccccactcctcttccaggCggatgaggcgtcttgccaac	9	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	ENST00000263121.7	+	9	1316	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	SMARCB1_ENST00000407422.3_Splice_Site_p.R365W|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Splice_Site_p.R328W|SMARCB1_ENST00000344921.6_Splice_Site_p.R383W	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	374					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTCTTCCAGGCGGATGAGGCG	0.657			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																ENST00000344921.6			yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"D, N, F, S"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"			M		malignant rhabdoid	malignant rhabdoid		3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.L266_*386del(1)	central_nervous_system(3)	bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458						c.e9-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1							34	26	29					22																	24176329		2195	4299	6494	SO:0001630	splice_region_variant	6598				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24176329C>T	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1119-1C>T	22.37:g.24176329C>T						SMARCB1_ENST00000407422.3_Splice_Site_p.R365_splice|SMARCB1_ENST00000263121.7_Splice_Site_p.R374_splice|SMARCB1_ENST00000407082.3_Splice_Site_p.R328_splice	p.R383_splice			Q12824	SNF5_HUMAN			9	1354	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	374					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Splice_Site	SNP	ENST00000263121.7	37	c.1145_splice	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442226	0.63067	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D	0.97529	-4.34;-4.42;-4.38;-4.27	4.94	3.9	0.45041	.	0.000000	0.85682	D	0.000000	D	0.98012	0.9345	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.919;0.964	D	0.98645	1.0677	10	0.87932	D	0	-9.4379	14.0034	0.64446	0.1526:0.8474:0.0:0.0	.	383;365;374	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	W	383;374;365;328	ENSP00000340883:R383W;ENSP00000263121:R374W;ENSP00000383984:R365W;ENSP00000385226:R328W	ENSP00000263121:R374W	R	+	1	2	SMARCB1	22506329	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	4.566000	0.60843	1.206000	0.43276	0.442000	0.29010	CGG		0.657	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073	Missense_Mutation	8	38	0	0	0	1	0	8	38					T	24176329	C	T	24176329	5	4	79	1	0	0	0	0	0	0	1	0	14824	782	27	1	1154	1	SMARCB1	22	24176329	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	53246	24176329	27128237	20829	31146											
DERL3	91319	broad.mit.edu	37	chr22	24177042	24177042	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgagctctcctgccGtccctgggccgccctggctc	13	19	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24177042G>A	ENST00000318109.7	-	0	860				DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000406855.3_Missense_Mutation_p.T231M|DERL3_ENST00000404056.1_3'UTR			Q96Q80	DERL3_HUMAN	derlin 3						endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CTCTCCTGCCGTCCCTGGGCC	0.652																																						ENST00000406855.3																			0				ovary(1)|prostate(1)|skin(1)	3						c.(691-693)aCg>aTg		derlin 3							48	50	49					22																	24177042		1568	3582	5150	SO:0001628	intergenic_variant	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24177042G>A	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743		22.37:g.24177042G>A						DERL3_ENST00000464023.1_5'UTR|DERL3_ENST00000404056.1_3'UTR	p.T231M	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN			7	710	-			0					F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.692C>T	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	G	6.864	0.528669	0.13127	.	.	ENSG00000099958	ENST00000406855	T	0.23552	1.9	1.86	-1.97	0.07503	.	.	.	.	.	T	0.13670	0.0331	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26677	-1.0096	8	0.33141	T	0.24	.	5.3542	0.16051	0.6403:0.0:0.3597:0.0	.	231	Q96Q80-2	.	M	231	ENSP00000384744:T231M	ENSP00000384744:T231M	T	-	2	0	DERL3	22507042	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.563000	0.05943	-0.446000	0.07149	0.196000	0.17591	ACG		0.652	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		43	203	0	0	0	1	0	43	203					A	24177042	G	A	24177042	1	1	79	0	1	0	0	0	0	0	0	0	4464	1145	40	1		1	DERL3	22	24177042	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	713	24177042	27127524	20830	31147											
DERL3	91319	broad.mit.edu	37	chr22	24179333	24179333	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagtagtagatatggcccaCcgcaatccctgtgagacagc	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24179333C>T	ENST00000318109.7	-	6	548	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000404056.1_Missense_Mutation_p.V151M|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M			Q96Q80	DERL3_HUMAN	derlin 3	178					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						ATATGGCCCACCGCAATCCCT	0.627																																						ENST00000404056.1																			0				ovary(1)|prostate(1)|skin(1)	3						c.(451-453)Gtg>Atg		derlin 3							65	59	61					22																	24179333		2203	4300	6503	SO:0001583	missense	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179333C>T	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.532G>A	22.37:g.24179333C>T	ENSP00000315303:p.Val178Met					DERL3_ENST00000406855.3_Missense_Mutation_p.V178M|DERL3_ENST00000476077.1_Missense_Mutation_p.V178M|DERL3_ENST00000318109.7_Missense_Mutation_p.V178M	p.V151M			Q96Q80	DERL3_HUMAN			5	469	-			178					F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	c.451G>A	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737813	0.69304	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.33865	2.66;1.39;2.66;2.66	4.63	3.59	0.41128	.	0.070231	0.56097	D	0.000031	T	0.64940	0.2644	M	0.90082	3.085	0.58432	D	0.999992	D;D	0.76494	0.999;0.998	D;D	0.73708	0.972;0.981	T	0.73275	-0.4034	10	0.72032	D	0.01	.	13.4842	0.61355	0.1578:0.8422:0.0:0.0	.	178;178	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	M	178;151;178;178	ENSP00000384744:V178M;ENSP00000384473:V151M;ENSP00000315303:V178M;ENSP00000419399:V178M	ENSP00000315303:V178M	V	-	1	0	DERL3	22509333	1.000000	0.71417	0.711000	0.30485	0.851000	0.48451	5.767000	0.68850	1.074000	0.40909	0.558000	0.71614	GTG		0.627	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1	NM_198440		13	216	0	0	0	1	0	13	216					T	24179333	C	T	24179333	3	4	79	1	0	0	0	0	1	0	0	0	4464	507	18	2	297	2	DERL3	22	24179333	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2291	24179333	27125233	20831	31148											
CABIN1	23523	broad.mit.edu	37	chr22	24455729	24455729	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagatgattccttTaataactatgaagtccagtc	10	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24455729T>C	ENST00000398319.2	+	11	1687	c.1302T>C	c.(1300-1302)ttT>ttC	p.F434F	CABIN1_ENST00000405822.2_Silent_p.F384F|CABIN1_ENST00000263119.5_Silent_p.F434F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	434					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						ATGATTCCTTTAATAACTATG	0.443																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1300-1302)ttT>ttC		calcineurin binding protein 1							93	84	87					22																	24455729		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24455729T>C	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.1302T>C	22.37:g.24455729T>C						CABIN1_ENST00000263119.5_Silent_p.F434F|CABIN1_ENST00000405822.2_Silent_p.F384F	p.F434F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			11	1687	+			434					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.1302T>C	CCDS13823.1																																																																																				0.443	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		53	177	0	0	0	1	0	53	177					C	24455729	T	C	24455729	2	2	79	1	0	0	0	0	0	0	0	1	2535	1751	61	4		4	CABIN1	22	24455729	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	276396	24455729	26848837	20832	31149											
CABIN1	23523	broad.mit.edu	37	chr22	24456585	24456585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacccgctgctgagggactGcagcaacaagcacatcaagg	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24456585G>A	ENST00000398319.2	+	12	1983	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y|CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	533					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						CTGAGGGACTGCAGCAACAAG	0.622																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1597-1599)tGc>tAc		calcineurin binding protein 1							43	39	40					22																	24456585		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24456585G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.1598G>A	22.37:g.24456585G>A	ENSP00000381364:p.Cys533Tyr					CABIN1_ENST00000263119.5_Missense_Mutation_p.C533Y|CABIN1_ENST00000405822.2_Missense_Mutation_p.C483Y	p.C533Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			12	1983	+			533					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.1598G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647862	0.67358	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75050	-0.9;-0.9;-0.9	5.19	5.19	0.71726	.	0.048717	0.85682	D	0.000000	T	0.77738	0.4175	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.993;0.989	P;P	0.59487	0.858;0.726	T	0.75912	-0.3150	10	0.36615	T	0.2	.	14.5566	0.68103	0.0:0.1575:0.8425:0.0	.	483;533	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Y	533;483;533	ENSP00000263119:C533Y;ENSP00000384694:C483Y;ENSP00000381364:C533Y	ENSP00000263119:C533Y	C	+	2	0	CABIN1	22786585	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.950000	0.70265	2.592000	0.87571	0.644000	0.83932	TGC		0.622	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		39	150	0	0	0	1	0	39	150					A	24456585	G	A	24456585	3	1	79	1	0	0	0	0	1	0	0	0	2535	1319	46	2	1640	2	CABIN1	22	24456585	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	856	24456585	26847981	20833	31150											
CABIN1	23523	broad.mit.edu	37	chr22	24480696	24480696	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagagaggccagcccttagCctggacaaagtctctgccta	10	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24480696C>T	ENST00000398319.2	+	21	3460	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	CABIN1_ENST00000405822.2_Silent_p.S975S|CABIN1_ENST00000263119.5_Silent_p.S1025S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1025					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						CAGCCCTTAGCCTGGACAAAG	0.552																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3073-3075)agC>agT		calcineurin binding protein 1							91	77	81					22																	24480696		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24480696C>T	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.3075C>T	22.37:g.24480696C>T						CABIN1_ENST00000263119.5_Silent_p.S1025S|CABIN1_ENST00000405822.2_Silent_p.S975S	p.S1025S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			21	3460	+			1025					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.3075C>T	CCDS13823.1																																																																																				0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		76	308	0	0	0	1	0	76	308					T	24480696	C	T	24480696	2	4	79	1	0	0	0	0	0	0	0	1	2535	738	26	2		2	CABIN1	22	24480696	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24111	24480696	26823870	20834	31151											
CABIN1	23523	broad.mit.edu	37	chr22	24509677	24509677	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcagttcccaagcaggagCgacgggtaaagatcttcagg	12	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24509677C>T	ENST00000398319.2	+	27	4647	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V	CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V|CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1421					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						CAAGCAGGAGCGACGGGTAAA	0.507																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4261-4263)gCg>gTg		calcineurin binding protein 1							81	82	81					22																	24509677		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24509677C>T	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.4262C>T	22.37:g.24509677C>T	ENSP00000381364:p.Ala1421Val					CABIN1_ENST00000263119.5_Missense_Mutation_p.A1421V|CABIN1_ENST00000405822.2_Missense_Mutation_p.A1342V	p.A1421V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			27	4647	+			1421					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.4262C>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072617	0.08436	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.63580	0.17;-0.05;0.17	4.44	-7.85	0.01192	.	1.488080	0.03540	N	0.223755	T	0.35885	0.0947	N	0.14661	0.345	0.09310	N	1	B;B	0.23058	0.079;0.048	B;B	0.15870	0.014;0.006	T	0.41431	-0.9509	10	0.06236	T	0.91	.	9.8865	0.41264	0.0:0.1883:0.1182:0.6935	.	1342;1421	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	V	1421;1342;1421	ENSP00000263119:A1421V;ENSP00000384694:A1342V;ENSP00000381364:A1421V	ENSP00000263119:A1421V	A	+	2	0	CABIN1	22839677	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.152000	0.16302	-1.329000	0.02258	-1.867000	0.00556	GCG		0.507	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		85	458	0	0	0	1	0	85	458					T	24509677	C	T	24509677	3	4	79	1	0	0	0	0	1	0	0	0	2535	768	27	1	4364	1	CABIN1	22	24509677	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28981	24509677	26794889	20835	31152											
CABIN1	23523	broad.mit.edu	37	chr22	24561582	24561582	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcgaagacacgctgagCgagctcgcagaggtatgcca	14	11	0	3	rs201868169	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24561582C>T	ENST00000398319.2	+	31	5380	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	CABIN1_ENST00000405822.2_Silent_p.S1586S|CABIN1_ENST00000263119.5_Silent_p.S1665S|CABIN1_ENST00000337989.7_Silent_p.S90S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1665					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						ACACGCTGAGCGAGCTCGCAG	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23131	0.0		0.0	False		,,,				2504	0.0					ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4993-4995)agC>agT		calcineurin binding protein 1		C	,,	2,4402	4.2+/-10.8	0,2,2200	102	65	77		4995,4845,4995	-2.5	1	22		77	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	,,	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	,,	1665/2221,1615/2171,1665/2221	24561582	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24561582C>T	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.4995C>T	22.37:g.24561582C>T						CABIN1_ENST00000263119.5_Silent_p.S1665S|CABIN1_ENST00000405822.2_Silent_p.S1586S|CABIN1_ENST00000337989.7_Silent_p.S90S	p.S1665S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			31	5380	+			1665					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.4995C>T	CCDS13823.1																																																																																				0.617	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		23	79	0	0	0	1	0	23	79					T	24561582	C	T	24561582	2	4	79	1	0	0	0	0	0	0	0	1	2535	767	27	1		1	CABIN1	22	24561582	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51905	24561582	26742984	20836	31153											
SUSD2	56241	broad.mit.edu	37	chr22	24583229	24583229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgctggcatcaggggccGgcctggaggtcagcgtgcag	17	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583229G>A	ENST00000358321.3	+	11	1963	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	568	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						ATCAGGGGCCGGCCTGGAGGT	0.642																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1702-1704)Ggc>Agc		sushi domain containing 2							126	104	111					22																	24583229		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583229G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1702G>A	22.37:g.24583229G>A	ENSP00000351075:p.Gly568Ser						p.G568S	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			11	1963	+			568			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1702G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459459	0.84317	.	.	ENSG00000099994	ENST00000358321	T	0.60920	0.15	4.36	4.36	0.52297	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.62088	1.915	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.72418	-0.4300	10	0.41790	T	0.15	-41.8882	14.8174	0.70045	0.0:0.0:1.0:0.0	.	568	Q9UGT4	SUSD2_HUMAN	S	568	ENSP00000351075:G568S	ENSP00000351075:G568S	G	+	1	0	SUSD2	22913229	1.000000	0.71417	0.982000	0.44146	0.365000	0.29674	7.173000	0.77612	2.152000	0.67230	0.449000	0.29647	GGC		0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		9	226	0	0	0	1	0	9	226					A	24583229	G	A	24583229	3	1	79	1	0	0	0	0	1	0	0	0	15460	1116	39	1	1744	1	SUSD2	22	24583229	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21647	24583229	26721337	20837	31154											
SUSD2	56241	broad.mit.edu	37	chr22	24583271	24583271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgttcctgagtgtgtccGtcctgctgcctgagaagttc	12	13	0	2	rs116324909	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583271G>A	ENST00000358321.3	+	11	2005	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	582	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						GAGTGTGTCCGTCCTGCTGCC	0.657													G|||	12	0.00239617	0.0091	0.0	5008	,	,		18187	0.0		0.0	False		,,,				2504	0.0					ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1744-1746)Gtc>Atc		sushi domain containing 2		G	ILE/VAL	14,4392	20.2+/-43.8	0,14,2189	174	135	148		1744	1.1	0.1	22	dbSNP_132	148	0,8600		0,0,4300	yes	missense	SUSD2	NM_019601.3	29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	possibly-damaging	582/823	24583271	14,12992	2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24583271G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1744G>A	22.37:g.24583271G>A	ENSP00000351075:p.Val582Ile						p.V582I	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			11	2005	+			582			VWFD.		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1744G>A	CCDS13824.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.542	1.113576	0.20795	0.003177	0.0	ENSG00000099994	ENST00000358321	T	0.60797	0.16	4.49	1.1	0.20463	von Willebrand factor, type D domain (3);	0.124624	0.53938	N	0.000055	T	0.36166	0.0957	L	0.53617	1.68	0.33002	D	0.526427	B	0.28470	0.213	B	0.23018	0.043	T	0.41680	-0.9495	10	0.26408	T	0.33	-35.7097	7.3624	0.26754	0.3256:0.0:0.6744:0.0	.	582	Q9UGT4	SUSD2_HUMAN	I	582	ENSP00000351075:V582I	ENSP00000351075:V582I	V	+	1	0	SUSD2	22913271	0.988000	0.35896	0.139000	0.22197	0.023000	0.10783	1.336000	0.33850	0.071000	0.16664	0.549000	0.68633	GTC		0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		11	258	0	0	0	1	0	11	258					A	24583271	G	A	24583271	3	1	79	1	0	0	0	0	1	0	0	0	15460	1145	40	1	1786	1	SUSD2	22	24583271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42	24583271	26721295	20838	31155											
GGT5	2687	broad.mit.edu	37	chr22	24622114	24622114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagacacatgggacgtgcCtgtcccgtggccccaggcct	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622114C>T	ENST00000327365.4	-	8	1575	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	387					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGGACGTGCCTGTCCCGTGG	0.692																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1159-1161)Ggc>Agc		gamma-glutamyltransferase 5							30	31	31					22																	24622114		2203	4299	6502	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622114C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1159G>A	22.37:g.24622114C>T	ENSP00000330080:p.Gly387Ser					GGT5_ENST00000263112.7_Missense_Mutation_p.G355S|GGT5_ENST00000398292.3_Missense_Mutation_p.G387S|GGT5_ENST00000418439.2_Missense_Mutation_p.G310S	p.G387S	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1575	-			387					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1159G>A	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715644	0.68844	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.995;1.0	D;D;D;D;D	0.91635	0.984;0.99;0.999;0.97;0.999	T	0.29912	-0.9996	10	0.72032	D	0.01	-35.4785	15.122	0.72450	0.0:1.0:0.0:0.0	.	310;355;387;387;387	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	S	387;355;302;387;310	ENSP00000330080:G387S;ENSP00000263112:G355S;ENSP00000381340:G387S;ENSP00000392146:G310S	ENSP00000263112:G355S	G	-	1	0	GGT5	22952114	1.000000	0.71417	0.990000	0.47175	0.058000	0.15608	6.805000	0.75191	2.262000	0.75019	0.485000	0.47835	GGC		0.692	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		28	144	0	0	0	1	0	28	144					T	24622114	C	T	24622114	3	4	79	1	0	0	0	0	1	0	0	0	6391	681	24	2	624	2	GGT5	22	24622114	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38843	24622114	26682452	20839	31156											
GGT5	2687	broad.mit.edu	37	chr22	24622171	24622171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagctggtggtccccccGgccatcgatctgttggcgga	15	13	1	1	rs374513263		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622171G>A	ENST00000327365.4	-	8	1518	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	GGT5_ENST00000263112.7_Missense_Mutation_p.R336W|GGT5_ENST00000398292.3_Missense_Mutation_p.R368W|GGT5_ENST00000418439.2_Missense_Mutation_p.R291W	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	368					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTCCCCCCGGCCATCGATC	0.697																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1102-1104)Cgg>Tgg		gamma-glutamyltransferase 5		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4404		0,0,2202	28	32	31		1102,1006,1102	1	0.4	22		31	1,8597		0,1,4298	no	missense,missense,missense	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	101,101,101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	368/588,336/555,368/587	24622171	1,13001	2202	4299	6501	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24622171G>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1102C>T	22.37:g.24622171G>A	ENSP00000330080:p.Arg368Trp					GGT5_ENST00000263112.7_Missense_Mutation_p.R336W|GGT5_ENST00000398292.3_Missense_Mutation_p.R368W|GGT5_ENST00000418439.2_Missense_Mutation_p.R291W	p.R368W	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			8	1518	-			368					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1102C>T	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243894	0.22796	0.0	1.16E-4	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.07114	3.22;3.22;3.22;3.22	4.51	1.02	0.19986	.	0.320649	0.34362	N	0.004035	T	0.10766	0.0263	L	0.60455	1.87	0.20307	N	0.999911	D;P;P;P;P	0.59357	0.985;0.588;0.64;0.825;0.64	P;B;B;B;B	0.49477	0.612;0.14;0.219;0.148;0.219	T	0.13072	-1.0523	10	0.66056	D	0.02	-26.0215	3.4169	0.07378	0.1824:0.0:0.4362:0.3814	.	291;336;368;368;368	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	W	368;336;283;368;291	ENSP00000330080:R368W;ENSP00000263112:R336W;ENSP00000381340:R368W;ENSP00000392146:R291W	ENSP00000263112:R336W	R	-	1	2	GGT5	22952171	0.006000	0.16342	0.450000	0.26969	0.390000	0.30446	0.915000	0.28638	0.421000	0.25980	-0.515000	0.04445	CGG		0.697	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		37	210	0	0	0	1	0	37	210					A	24622171	G	A	24622171	3	1	79	1	0	0	0	0	1	0	0	0	6391	1115	39	1	681	1	GGT5	22	24622171	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57	24622171	26682395	20840	31157											
CYTSA	23384	broad.mit.edu	37	chr22	24709374	24709374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcacctgcccatctgcaGcaccttcagcatctgcccct	6	18	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24709374G>A	ENST00000314328.9	+	4	532	c.247G>A	c.(247-249)Gca>Aca	p.A83T	SPECC1L_ENST00000437398.1_Missense_Mutation_p.A83T|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A83T|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.A83T	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	83					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						CCCATCTGCAGCACCTTCAGC	0.488																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(247-249)Gca>Aca		sperm antigen with calponin homology and coiled-coil domains 1-like							98	80	86					22																	24709374		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24709374G>A	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.247G>A	22.37:g.24709374G>A	ENSP00000325785:p.Ala83Thr					SPECC1L_ENST00000416735.1_3'UTR|SPECC1L_ENST00000437398.1_Missense_Mutation_p.A83T|SPECC1L_ENST00000541492.1_Missense_Mutation_p.A83T|KB-1896H10.1_ENST00000358654.2_Missense_Mutation_p.A83T	p.A83T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			4	532	+			83					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.247G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528348	0.44969	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.64991	-0.13;2.37;-0.13;2.88;0.46	5.09	4.06	0.47325	.	0.334721	0.32518	N	0.005999	T	0.38295	0.1035	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	0.22941	-1.0202	10	0.62326	D	0.03	-13.1645	7.611	0.28131	0.0837:0.0:0.7514:0.1649	.	83;83	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	T	111;83;83;83;83;22	ENSP00000393363:A83T;ENSP00000405671:A83T;ENSP00000325785:A83T;ENSP00000439633:A83T;ENSP00000414354:A22T	ENSP00000325785:A83T	A	+	1	0	SPECC1L	23039374	0.958000	0.32768	0.100000	0.21137	0.993000	0.82548	2.735000	0.47377	2.538000	0.85594	0.655000	0.94253	GCA		0.488	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		16	272	0	0	0	1	0	16	272					A	24709374	G	A	24709374	3	1	79	1	0	0	0	0	1	0	0	0	4220	971	34	2	253	2	CYTSA	22	24709374	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87203	24709374	26595192	20841	31158											
ADORA2A	135	broad.mit.edu	37	chr22	24829461	24829461	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatgtgctggtgtgctgggCcgtgtggctcaacagcaacc	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24829461C>T	ENST00000337539.7	+	2	548	c.89C>T	c.(88-90)gCc>gTc	p.A30V	ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000326341.4_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	30					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)	GTGTGCTGGGCCGTGTGGCTC	0.617																																						ENST00000337539.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21						c.(88-90)gCc>gTc		adenosine A2a receptor	Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)						143	86	105					22																	24829461		2203	4300	6503	SO:0001583	missense	135				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding	g.chr22:24829461C>T	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.89C>T	22.37:g.24829461C>T	ENSP00000336630:p.Ala30Val					ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|KB-1896H10.1_ENST00000358654.2_3'UTR	p.A30V	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			2	548	+	Colorectal(2;0.196)		30					B2R7E0	Missense_Mutation	SNP	ENST00000337539.7	37	c.89C>T	CCDS13826.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963669	0.92791	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.33216	1.42;2.22;2.22;1.42;1.42	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.63192	0.912	T	0.55289	-0.8164	10	0.51188	T	0.08	-14.2269	16.4299	0.83839	0.0:1.0:0.0:0.0	.	30	P29274	AA2AR_HUMAN	V	30	ENSP00000404497:A30V;ENSP00000414802:A30V;ENSP00000336630:A30V;ENSP00000397071:A30V;ENSP00000400190:A30V	ENSP00000336630:A30V	A	+	2	0	ADORA2A	23159461	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	7.463000	0.80869	2.350000	0.79820	0.561000	0.74099	GCC		0.617	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319971.2	NM_000675		79	295	0	0	0	1	0	79	295					T	24829461	C	T	24829461	3	4	79	1	0	0	0	0	1	0	0	0	327	739	26	2	91	2	ADORA2A	22	24829461	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120087	24829461	26475105	20842	31159											
UPB1	51733	broad.mit.edu	37	chr22	24891453	24891453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgcaggaagtgaagcgcGttctctatggcaaggaactc	12	9	1	1	rs141896929	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24891453G>A	ENST00000326010.5	+	1	426	c.82G>A	c.(82-84)Gtt>Att	p.V28I	UPB1_ENST00000382760.2_Missense_Mutation_p.V28I|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|UPB1_ENST00000413389.2_Missense_Mutation_p.R17H|ADORA2A-AS1_ENST00000412790.1_RNA	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	28					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)					AGTGAAGCGCGTTCTCTATGG	0.637													G|||	6	0.00119808	0.0045	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0					ENST00000413389.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(49-51)cGt>cAt		ureidopropionase, beta		G	ILE/VAL	40,4366	43.1+/-76.7	0,40,2163	73	63	67		82	0.4	0.9	22	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UPB1	NM_016327.2	29	0,41,6462	AA,AG,GG		0.0116,0.9079,0.3152	benign	28/385	24891453	41,12965	2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24891453G>A	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.82G>A	22.37:g.24891453G>A	ENSP00000324343:p.Val28Ile					UPB1_ENST00000382760.2_Missense_Mutation_p.V28I|UPB1_ENST00000326010.5_Missense_Mutation_p.V28I	p.R17H			Q9UBR1	BUP1_HUMAN			2	1643	+	Colorectal(2;0.0339)		0					A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.50G>A	CCDS13827.1	3|3	0.0013736263736263737|0.0013736263736263737	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	16.46|16.46	3.129310|3.129310	0.56721|0.56721	0.009079|0.009079	1.16E-4|1.16E-4	ENSG00000100024|ENSG00000100024	ENST00000413389|ENST00000326010;ENST00000382760;ENST00000426507	D|T;T	0.83419|0.77620	-1.72|-1.11;-1.11	5.1|5.1	0.391|0.391	0.16282|0.16282	.|.	.|0.482685	.|0.23386	.|N	.|0.048743	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.01168|0.01168	-0.975|-0.975	0.21416|0.21416	N|N	0.999692|0.999692	B|B	0.02656|0.06786	0.0|0.001	B|B	0.01281|0.04013	0.0|0.001	T|T	0.38950|0.38950	-0.9637|-0.9637	9|10	0.48119|0.02654	T|T	0.1|1	0.7381|0.7381	4.0678|4.0678	0.09868|0.09868	0.434:0.3568:0.2092:0.0|0.434:0.3568:0.2092:0.0	.|.	17|28	E7EUZ5|Q9UBR1	.|BUP1_HUMAN	H|I	17|28	ENSP00000406057:R17H|ENSP00000324343:V28I;ENSP00000372208:V28I	ENSP00000406057:R17H|ENSP00000324343:V28I	R|V	+|+	2|1	0|0	UPB1|UPB1	23221453|23221453	0.006000|0.006000	0.16342|0.16342	0.938000|0.938000	0.37757|0.37757	0.928000|0.928000	0.56348|0.56348	-0.076000|-0.076000	0.11412|0.11412	-0.144000|-0.144000	0.11314|0.11314	0.585000|0.585000	0.79938|0.79938	CGT|GTT		0.637	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			78	340	0	0	0	1	0	78	340					A	24891453	G	A	24891453	3	1	79	1	0	0	0	0	1	0	0	0	17056	1145	40	1	84	1	UPB1	22	24891453	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	61992	24891453	26413113	20843	31160											
UPB1	51733	broad.mit.edu	37	chr22	24898122	24898122	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttcatagacgcataaaggCtatcgtagaggtggctgcaa	11	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24898122C>A	ENST00000326010.5	+	3	649	c.305C>A	c.(304-306)gCt>gAt	p.A102D	UPB1_ENST00000382760.2_Missense_Mutation_p.A102D|UPB1_ENST00000413389.2_Missense_Mutation_p.A34D	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	102	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)					CGCATAAAGGCTATCGTAGAG	0.408																																						ENST00000413389.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(100-102)gCt>gAt		ureidopropionase, beta							252	217	229					22																	24898122		2203	4300	6503	SO:0001583	missense	51733				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	g.chr22:24898122C>A	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.305C>A	22.37:g.24898122C>A	ENSP00000324343:p.Ala102Asp					UPB1_ENST00000382760.2_Missense_Mutation_p.A102D|UPB1_ENST00000326010.5_Missense_Mutation_p.A102D	p.A34D			Q9UBR1	BUP1_HUMAN			3	1694	+	Colorectal(2;0.0339)		102					A3KMF8|Q9UIR3	Missense_Mutation	SNP	ENST00000326010.5	37	c.101C>A	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	2.597	-0.293848	0.05568	.	.	ENSG00000100024	ENST00000413389;ENST00000326010;ENST00000382760;ENST00000426507	D;D;D	0.86865	-2.18;-2.18;-1.67	5.06	1.42	0.22433	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.167322	0.52532	D	0.000072	T	0.69415	0.3108	N	0.10972	0.075	0.29193	N	0.875738	B;B	0.06786	0.001;0.0	B;B	0.09377	0.002;0.004	T	0.55829	-0.8079	10	0.15499	T	0.54	-12.8567	7.4629	0.27306	0.5662:0.312:0.1217:0.0	.	102;34	Q9UBR1;E7EUZ5	BUP1_HUMAN;.	D	34;102;102;102	ENSP00000406057:A34D;ENSP00000324343:A102D;ENSP00000372208:A102D	ENSP00000324343:A102D	A	+	2	0	UPB1	23228122	1.000000	0.71417	0.111000	0.21465	0.074000	0.17049	3.355000	0.52262	0.470000	0.27294	0.650000	0.86243	GCT		0.408	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1			30	745	1	0	4.3181e-19	1	4.80867e-19	30	745					A	24898122	C	A	24898122	3	1	79	1	0	0	0	0	1	0	0	0	17056	797	28	3	315	3	UPB1	22	24898122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6669	24898122	26406444	20844	31161											
GGT1	2678	broad.mit.edu	37	chr22	25007192	25007192	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtggccgcggatgccaaGcagtgctcgaagattgggag	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25007192G>A	ENST00000400382.1	+	5	899	c.144G>A	c.(142-144)aaG>aaA	p.K48K	GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	48					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CGGATGCCAAGCAGTGCTCGA	0.607																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(142-144)aaG>aaA		gamma-glutamyltransferase 1	Glutathione(DB00143)						13	14	13					22																	25007192		2026	4175	6201	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25007192G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.144G>A	22.37:g.25007192G>A						GGT1_ENST00000400380.1_Silent_p.K48K|GGT1_ENST00000248923.4_Silent_p.K48K|GGT1_ENST00000400383.1_Silent_p.K48K|GGT1_ENST00000406383.2_Silent_p.K48K	p.K48K			P19440	GGT1_HUMAN			5	899	+			48					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.144G>A	CCDS42992.1																																																																																				0.607	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		6	24	0	0	0	1	0	6	24					A	25007192	G	A	25007192	2	1	79	1	0	0	0	0	0	0	0	1	6390	962	34	2		2	GGT1	22	25007192	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	109070	25007192	26297374	20845	31162											
PIWIL3	440822	broad.mit.edu	37	chr22	25131759	25131759	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatggcttctctgtgactgCtcctgctatagagtatgagc	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25131759C>A	ENST00000332271.5	-	13	1966	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	517					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTGTGACTGCTCCTGCTATA	0.428																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1549-1551)aGc>aTc		piwi-like RNA-mediated gene silencing 3							213	207	209					22																	25131759		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25131759C>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1550G>T	22.37:g.25131759C>A	ENSP00000330031:p.Ser517Ile					PIWIL3_ENST00000533313.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000527701.1_Missense_Mutation_p.S408I|PIWIL3_ENST00000532537.2_5'UTR	p.S517I	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			13	1966	-			517						Missense_Mutation	SNP	ENST00000332271.5	37	c.1550G>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641480	0.29157	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.05081	3.5;3.5;3.5	1.85	-2.71	0.05986	Ribonuclease H-like (1);	0.337015	0.28062	U	0.016756	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B;P;P	0.45715	0.382;0.789;0.865	B;P;B	0.44597	0.031;0.454;0.326	T	0.40776	-0.9545	10	0.72032	D	0.01	4.0E-4	6.8962	0.24257	0.0:0.5027:0.0:0.4973	.	408;517;517	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	I	517;408;408	ENSP00000330031:S517I;ENSP00000431843:S408I;ENSP00000435718:S408I	ENSP00000330031:S517I	S	-	2	0	PIWIL3	23461759	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.032000	0.30178	-0.695000	0.05105	-0.657000	0.03884	AGC		0.428	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		162	767	1	0	2.91622e-83	1	3.73361e-83	162	767					A	25131759	C	A	25131759	3	1	79	1	0	0	0	0	1	0	0	0	12001	797	28	3	1134	3	PIWIL3	22	25131759	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	124567	25131759	26172807	20846	31163											
PIWIL3	440822	broad.mit.edu	37	chr22	25144975	25144975	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagttgaagtaactctcGtacttttttattactgaaaa	6	7	1	3	rs201028643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25144975G>A	ENST00000332271.5	-	12	1764	c.1348C>T	c.(1348-1350)Cga>Tga	p.R450*	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	450					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTAACTCTCGTACTTTTTTA	0.353																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1348-1350)Cga>Tga		piwi-like RNA-mediated gene silencing 3		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	58	58	58		1348	1.2	0	22		58	0,8600		0,0,4300	yes	stop-gained	PIWIL3	NM_001008496.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		450/883	25144975	2,13004	2203	4300	6503	SO:0001587	stop_gained	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25144975G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1348C>T	22.37:g.25144975G>A	ENSP00000330031:p.Arg450*					PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R341*|PIWIL3_ENST00000532537.2_5'UTR	p.R450*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			12	1764	-			450						Nonsense_Mutation	SNP	ENST00000332271.5	37	c.1348C>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	38	6.678384	0.97755	4.54E-4	0.0	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	.	.	.	2.29	1.22	0.21188	.	0.304714	0.31020	U	0.008412	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-1.0893	8.1043	0.30877	0.0:0.0:0.7572:0.2427	.	.	.	.	X	450;341;341	.	ENSP00000330031:R450X	R	-	1	2	PIWIL3	23474975	0.483000	0.25956	0.001000	0.08648	0.003000	0.03518	3.170000	0.50816	0.505000	0.28104	0.313000	0.20887	CGA		0.353	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		9	328	0	0	0	1	0	9	328					A	25144975	G	A	25144975	4	1	79	1	0	0	0	0	0	1	0	0	12001	1153	40	1	1340	1	PIWIL3	22	25144975	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13216	25144975	26159591	20847	31164											
SGSM1	129049	broad.mit.edu	37	chr22	25251355	25251355	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcaccgcatccacagctcCcacgtgcggcaggactcgcc	11	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251355C>T	ENST00000400359.4	+	7	634	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SGSM1_ENST00000400358.4_Silent_p.S209S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	209						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						TCCACAGCTCCCACGTGCGGC	0.622																																						ENST00000400358.4																			0				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						c.(625-627)tcC>tcT		small G protein signaling modulator 1							28	31	30					22																	25251355		2092	4221	6313	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25251355C>T	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.627C>T	22.37:g.25251355C>T						SGSM1_ENST00000400359.4_Silent_p.S209S	p.S209S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			7	684	+			209					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.627C>T	CCDS46674.1																																																																																				0.622	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		23	117	0	0	0	1	0	23	117					T	25251355	C	T	25251355	2	4	79	1	0	0	0	0	0	0	0	1	14272	610	22	2		2	SGSM1	22	25251355	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	106380	25251355	26053211	20848	31165											
SGSM1	129049	broad.mit.edu	37	chr22	25251633	25251633	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctatggcaaaaacaacGttcttgttcagccggtgaga	9	9	3	1	rs369682941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251633G>A	ENST00000400359.4	+	8	794	c.787G>A	c.(787-789)Gtt>Att	p.V263I	SGSM1_ENST00000400358.4_Missense_Mutation_p.V263I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	263						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						CAAAAACAACGTTCTTGTTCA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22314	0.0		0.0	False		,,,				2504	0.001					ENST00000400358.4																			0				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						c.(787-789)Gtt>Att		small G protein signaling modulator 1		G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4026		0,0,2013	82	89	87		787,787,787,787	4.1	1	22		87	1,8363		0,1,4181	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	29,29,29,29	0,1,6194	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	263/1149,263/1094,263/1033,263/1088	25251633	1,12389	2013	4182	6195	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25251633G>A	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.787G>A	22.37:g.25251633G>A	ENSP00000383212:p.Val263Ile					SGSM1_ENST00000400359.4_Missense_Mutation_p.V263I	p.V263I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			8	844	+			263					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.787G>A	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140086	0.77775	0.0	1.2E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.19669	2.17;2.13	4.05	4.05	0.47172	.	0.058022	0.64402	N	0.000002	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	P;D;D;P;D	0.89917	0.917;0.999;1.0;0.955;0.985	B;D;D;B;D	0.91635	0.357;0.99;0.999;0.332;0.939	T	0.61749	-0.6999	10	0.87932	D	0	-25.9808	15.5962	0.76583	0.0:0.0:1.0:0.0	.	263;238;396;263;238	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	I	238;263;263	ENSP00000383211:V263I;ENSP00000383212:V263I	ENSP00000383211:V263I	V	+	1	0	SGSM1	23581633	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	9.711000	0.98735	1.982000	0.57802	0.478000	0.44815	GTT		0.552	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		34	171	0	0	0	1	0	34	171					A	25251633	G	A	25251633	3	1	79	1	0	0	0	0	1	0	0	0	14272	1145	40	1	817	1	SGSM1	22	25251633	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	278	25251633	26052933	20849	31166											
TMEM211	255349	broad.mit.edu	37	chr22	25331516	25331516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccttgatgaatggggaGgcaaggccgattgggaaaat	14	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25331516G>A	ENST00000423535.1	-	3	386	c.387C>T	c.(385-387)gcC>gcT	p.A129A	TMEM211_ENST00000407886.1_Silent_p.A58A|TMEM211_ENST00000382744.1_Silent_p.A58A			Q6ICI0	TM211_HUMAN	transmembrane protein 211	129						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGAATGGGGAGGCAAGGCCGA	0.522																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(172-174)gcC>gcT		transmembrane protein 211							88	77	81					22																	25331516		2203	4300	6503	SO:0001819	synonymous_variant	255349					integral to membrane		g.chr22:25331516G>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.387C>T	22.37:g.25331516G>A						TMEM211_ENST00000423535.1_Silent_p.A129A|TMEM211_ENST00000382744.1_Silent_p.A58A	p.A58A			Q6ICI0	TM211_HUMAN			4	426	-			129						Silent	SNP	ENST00000423535.1	37	c.174C>T																																																																																					0.522	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		7	339	0	0	0	1	0	7	339					A	25331516	G	A	25331516	2	1	79	1	0	0	0	0	0	0	0	1	16187	987	35	2		2	TMEM211	22	25331516	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79883	25331516	25973050	20850	31167											
CRYBB3	1417	broad.mit.edu	37	chr22	25601329	25601329	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgtgccatcaacgggaCgtaagggacccaaccctcac	10	15	2	0	rs375467933		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25601329C>T	ENST00000215855.2	+	5	550	c.470C>T	c.(469-471)aCg>aTg	p.T157M	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	157	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						ATCAACGGGACGTAAGGGACC	0.532																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.e5+1		crystallin, beta B3		C	MET/THR	0,4406		0,0,2203	78	63	68		470	4.1	1	22		68	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	CRYBB3	NM_004076.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	157/212	25601329	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25601329C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.470+1C>T	22.37:g.25601329C>T						CRYBB3_ENST00000404334.1_Intron	p.T157_splice	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			5	550	+			157			Beta/gamma crystallin 'Greek key' 4.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Splice_Site	SNP	ENST00000215855.2	37	c.470_splice	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237932	0.58886	0.0	1.16E-4	ENSG00000100053	ENST00000215855	T	0.76186	-1.0	5.16	4.14	0.48551	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.114213	0.64402	N	0.000015	D	0.86477	0.5942	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86989	0.2109	10	0.46703	T	0.11	.	12.2128	0.54389	0.0:0.9167:0.0:0.0833	.	157	P26998	CRBB3_HUMAN	M	157	ENSP00000215855:T157M	ENSP00000215855:T157M	T	+	2	0	CRYBB3	23931329	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	5.138000	0.64795	1.187000	0.43000	0.549000	0.68633	ACG		0.532	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076	Missense_Mutation	18	111	0	0	0	1	0	18	111					T	25601329	C	T	25601329	5	4	79	1	0	0	0	0	0	0	1	0	3921	550	19	1	484	1	CRYBB3	22	25601329	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	269813	25601329	25703237	20851	31168											
CRYBB2	1415	broad.mit.edu	37	chr22	25625529	25625529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagaaggtgtcatctgtgCgggtgcagagtggcacgtaa	17	6	2	2	rs2330991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25625529C>T	ENST00000398215.2	+	5	604	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	145	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GTCATCTGTGCGGGTGCAGAG	0.567																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(433-435)Cgg>Tgg		crystallin, beta B2							88	66	74					22																	25625529		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25625529C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.433C>T	22.37:g.25625529C>T	ENSP00000381273:p.Arg145Trp						p.R145W	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			5	604	+			145			Beta/gamma crystallin 'Greek key' 3.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.433C>T	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	c	16.64	3.179679	0.57800	.	.	ENSG00000244752	ENST00000398215	T	0.78595	-1.19	5.0	1.17	0.20885	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	H	0.94503	3.545	0.58432	D	0.999995	D	0.76494	0.999	D	0.71870	0.975	D	0.92011	0.5618	10	0.66056	D	0.02	.	14.3933	0.66994	0.3923:0.6077:0.0:0.0	rs2330991	145	P43320	CRBB2_HUMAN	W	145	ENSP00000381273:R145W	ENSP00000381273:R145W	R	+	1	2	CRYBB2	23955529	0.950000	0.32346	0.848000	0.33437	0.970000	0.65996	0.103000	0.15292	0.480000	0.27534	-0.188000	0.12872	CGG		0.567	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		30	149	0	0	0	1	0	30	149					T	25625529	C	T	25625529	3	4	79	1	0	0	0	0	1	0	0	0	3920	759	27	1	447	1	CRYBB2	22	25625529	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24200	25625529	25679037	20852	31169											
CRYBB2	1415	broad.mit.edu	37	chr22	25627693	25627693	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtccgtgcgccgtatccGcgacatgcagtggcaccaac	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25627693G>A	ENST00000398215.2	+	6	743	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	191	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGCCGTATCCGCGACATGCAG	0.652																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(571-573)cGc>cAc		crystallin, beta B2							108	86	93					22																	25627693		2203	4300	6503	SO:0001583	missense	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25627693G>A		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.572G>A	22.37:g.25627693G>A	ENSP00000381273:p.Arg191His						p.R191H	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			6	743	+			191			Beta/gamma crystallin 'Greek key' 4.		Q9UCM8	Missense_Mutation	SNP	ENST00000398215.2	37	c.572G>A	CCDS13831.1	.	.	.	.	.	.	.	.	.	.	g	12.19	1.863202	0.32884	.	.	ENSG00000244752	ENST00000398215	T	0.76316	-1.01	3.98	3.98	0.46160	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	0.057317	0.64402	D	0.000002	T	0.76842	0.4044	M	0.83692	2.655	0.58432	D	0.999999	P	0.43750	0.816	B	0.36030	0.216	T	0.79888	-0.1613	10	0.36615	T	0.2	.	15.0574	0.71925	0.0:0.0:1.0:0.0	.	191	P43320	CRBB2_HUMAN	H	191	ENSP00000381273:R191H	ENSP00000381273:R191H	R	+	2	0	CRYBB2	23957693	1.000000	0.71417	0.955000	0.39395	0.003000	0.03518	5.905000	0.69893	1.763000	0.52060	0.462000	0.41574	CGC		0.652	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		100	542	0	0	0	1	0	100	542					A	25627693	G	A	25627693	3	1	79	1	0	0	0	0	1	0	0	0	3920	1087	38	1	590	1	CRYBB2	22	25627693	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2164	25627693	25676873	20853	31170											
LRP5L	91355	broad.mit.edu	37	chr22	25747794	25747794	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccaggccctagatggggcaGccaaaccgggttgtgtgggg	17	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25747794G>T	ENST00000402785.2	-	4	827	c.731C>A	c.(730-732)gCt>gAt	p.A244D	LRP5L_ENST00000444995.3_Intron|LRP5L_ENST00000402859.2_Missense_Mutation_p.A244D			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	244					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						AGATGGGGCAGCCAAACCGGG	0.582																																						ENST00000402859.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(730-732)gCt>gAt		low density lipoprotein receptor-related protein 5-like							115	106	109					22																	25747794		2200	4300	6500	SO:0001583	missense	91355							g.chr22:25747794G>T	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.731C>A	22.37:g.25747794G>T	ENSP00000384562:p.Ala244Asp					LRP5L_ENST00000444995.3_Intron|LRP5L_ENST00000402785.2_Missense_Mutation_p.A244D	p.A244D	NM_001135772.1	NP_001129244.1	A4QPB2	LRP5L_HUMAN			6	1254	-			244					B0QYF3|B0QYF4|B2RPI5	Missense_Mutation	SNP	ENST00000402785.2	37	c.731C>A	CCDS33626.1	.	.	.	.	.	.	.	.	.	.	g	12.13	1.844202	0.32606	.	.	ENSG00000100068	ENST00000402859;ENST00000402785	D;D	0.91792	-2.91;-2.91	1.99	0.87	0.19102	.	.	.	.	.	D	0.90783	0.7106	L	0.31926	0.97	0.33184	D	0.54992	D	0.65815	0.995	P	0.60286	0.872	D	0.89190	0.3550	9	0.72032	D	0.01	.	7.0469	0.25050	0.16:0.0:0.84:0.0	.	244	A4QPB2	LRP5L_HUMAN	D	244	ENSP00000384291:A244D;ENSP00000384562:A244D	ENSP00000384562:A244D	A	-	2	0	LRP5L	24077794	1.000000	0.71417	0.998000	0.56505	0.169000	0.22640	2.415000	0.44635	0.362000	0.24319	0.194000	0.17425	GCT		0.582	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		35	415	1	0	3.66854e-30	1	4.2996e-30	35	415					T	25747794	G	T	25747794	3	4	79	1	0	0	0	0	1	0	0	0	8999	971	34	3	31	3	LRP5L	22	25747794	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120101	25747794	25556772	20854	31171											
LRP5L	91355	broad.mit.edu	37	chr22	25750768	25750768	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtctgcctcttcgtctcatcGacactgatcgcctgcagaat	8	14	3	2	rs555246803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25750768G>A	ENST00000402785.2	-	3	546	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_ENST00000444995.3_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	150					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)	p.V150V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20116	0.001		0.0	False		,,,				2504	0.0					ENST00000444995.3																			1	Substitution - coding silent(1)	p.V150V(1)	cervix(1)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(448-450)gtC>gtT		low density lipoprotein receptor-related protein 5-like							110	97	101					22																	25750768		2200	4300	6500	SO:0001819	synonymous_variant	91355							g.chr22:25750768G>A	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.450C>T	22.37:g.25750768G>A						LRP5L_ENST00000402785.2_Silent_p.V150V|LRP5L_ENST00000402859.2_Silent_p.V150V	p.V150V			A4QPB2	LRP5L_HUMAN			6	1150	-			150					B0QYF3|B0QYF4|B2RPI5	Silent	SNP	ENST00000402785.2	37	c.450C>T	CCDS33626.1																																																																																				0.607	LRP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320477.2	NM_182492		50	200	0	0	0	1	0	50	200					A	25750768	G	A	25750768	2	1	79	1	0	0	0	0	0	0	0	1	8999	1045	37	1		1	LRP5L	22	25750768	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2974	25750768	25553798	20855	31172											
ADRBK2	157	broad.mit.edu	37	chr22	26107046	26107046	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttccagtacccaccaccCttgattcctccccggggaga	7	17	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26107046C>A	ENST00000324198.6	+	17	1599	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	469	AGC-kinase C-terminal.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACCCACCACCCTTGATTCCTC	0.463																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1405-1407)ccC>ccA		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						189	143	159					22																	26107046		2203	4300	6503	SO:0001819	synonymous_variant	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26107046C>A	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.1407C>A	22.37:g.26107046C>A							p.P469P	NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			17	1599	+			469			AGC-kinase C-terminal.		Q9UGW9	Silent	SNP	ENST00000324198.6	37	c.1407C>A	CCDS13832.1																																																																																				0.463	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		11	141	1	0	0.000978159	1	0.000988919	11	141					A	26107046	C	A	26107046	2	1	79	1	0	0	0	0	0	0	0	1	344	668	24	3		3	ADRBK2	22	26107046	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356278	26107046	25197520	20856	31173											
MYO18B	84700	broad.mit.edu	37	chr22	26157081	26157081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctcatcacgcctcGccctgtgggagcagaaggaa	12	13	2	1	rs139296373	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26157081G>A	ENST00000407587.2	+	2	191	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A8T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A8T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	8						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A8T(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						ATCACGCCTCGCCCTGTGGGA	0.592													G|||	2	0.000399361	0.0	0.0014	5008	,	,		21771	0.0		0.001	False		,,,				2504	0.0					ENST00000335473.7																			1	Substitution - Missense(1)	p.A8T(1)	large_intestine(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						c.(22-24)Gcc>Acc		myosin XVIIIB		G	THR/ALA	0,4378		0,0,2189	102	103	102		22	5.3	1	22	dbSNP_134	102	2,8558	2.2+/-6.3	0,2,4278	no	missense	MYO18B	NM_032608.5	58	0,2,6467	AA,AG,GG		0.0234,0.0,0.0155	benign	8/2568	26157081	2,12936	2189	4280	6469	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26157081G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.22G>A	22.37:g.26157081G>A	ENSP00000386096:p.Ala8Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.A8T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A8T	p.A8T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			2	272	+			8					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.22G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.9	4.874543	0.91664	0.0	2.34E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88896	-2.42;-2.42;-2.44	5.3	5.3	0.74995	.	0.000000	0.36101	N	0.002800	D	0.92909	0.7744	L	0.56769	1.78	0.34314	D	0.685746	D	0.89917	1.0	D	0.87578	0.998	D	0.95653	0.8708	10	0.87932	D	0	.	14.4541	0.67404	0.0:0.0:1.0:0.0	.	8	F5GYU7	.	T	8	ENSP00000441229:A8T;ENSP00000334563:A8T;ENSP00000386096:A8T	ENSP00000334563:A8T	A	+	1	0	MYO18B	24487081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.191000	0.65110	2.487000	0.83934	0.591000	0.81541	GCC		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		9	476	0	0	0	1	0	9	476					A	26157081	G	A	26157081	3	1	79	1	0	0	0	0	1	0	0	0	10107	1087	38	1	24	1	MYO18B	22	26157081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50035	26157081	25147485	20857	31174											
MYO18B	84700	broad.mit.edu	37	chr22	26165028	26165028	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtgagcttcggagcacgaCtgggaaggcaggtgagtcct	17	8	0	2	rs201697628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26165028C>A	ENST00000407587.2	+	4	1314	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N	MYO18B_ENST00000335473.7_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	382						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						CGGAGCACGACTGGGAAGGCA	0.587																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1144-1146)aCt>aAt		myosin XVIIIB							37	41	40					22																	26165028		2091	4217	6308	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165028C>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1145C>A	22.37:g.26165028C>A	ENSP00000386096:p.Thr382Asn					MYO18B_ENST00000407587.2_Missense_Mutation_p.T382N|MYO18B_ENST00000536101.1_Missense_Mutation_p.T382N	p.T382N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1395	+			382					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1145C>A		.	.	.	.	.	.	.	.	.	.	C	10.53	1.375684	0.24857	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86562	-2.12;-2.12;-2.14	3.72	2.68	0.31781	.	3.390750	0.01089	N	0.005146	T	0.79058	0.4382	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29037	0.148;0.231;0.231	B;B;B	0.25405	0.027;0.06;0.06	T	0.67428	-0.5673	10	0.45353	T	0.12	.	5.4493	0.16554	0.1972:0.6899:0.0:0.1129	.	382;382;382	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	382	ENSP00000441229:T382N;ENSP00000334563:T382N;ENSP00000386096:T382N	ENSP00000334563:T382N	T	+	2	0	MYO18B	24495028	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	0.839000	0.34971	0.491000	0.48974	ACT		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		19	87	1	0	6.94344e-10	1	7.33246e-10	19	87					A	26165028	C	A	26165028	3	1	79	1	0	0	0	0	1	0	0	0	10107	565	20	3	1155	3	MYO18B	22	26165028	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7947	26165028	25139538	20858	31175											
MYO18B	84700	broad.mit.edu	37	chr22	26224921	26224921	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacctttgtctccacgctaCagcgatatcaagaggtatgc	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26224921C>T	ENST00000407587.2	+	15	3134	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	MYO18B_ENST00000335473.7_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	989	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						CTCCACGCTACAGCGATATCA	0.602																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2965-2967)Cag>Tag		myosin XVIIIB							54	58	57					22																	26224921		2051	4199	6250	SO:0001587	stop_gained	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26224921C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2965C>T	22.37:g.26224921C>T	ENSP00000386096:p.Gln989*					MYO18B_ENST00000407587.2_Nonsense_Mutation_p.Q989*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.Q989*	p.Q989*	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			15	3215	+			989			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	ENST00000407587.2	37	c.2965C>T		.	.	.	.	.	.	.	.	.	.	C	41	8.572203	0.98868	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.69	3.67	0.42095	.	0.126707	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7042	0.62627	0.0:0.1588:0.8412:0.0	.	.	.	.	X	989	.	ENSP00000334563:Q989X	Q	+	1	0	MYO18B	24554921	1.000000	0.71417	0.976000	0.42696	0.021000	0.10359	3.493000	0.53266	1.196000	0.43129	-0.256000	0.11100	CAG		0.602	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		43	192	0	0	0	1	0	43	192					T	26224921	C	T	26224921	4	4	79	1	0	0	0	0	0	1	0	0	10107	479	17	2	3019	2	MYO18B	22	26224921	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59893	26224921	25079645	20859	31176											
MYO18B	84700	broad.mit.edu	37	chr22	26346384	26346384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctgcagctggaggaaGccaagaaggagaagcacaag	15	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26346384G>A	ENST00000407587.2	+	37	5972	c.5803G>A	c.(5803-5805)Gcc>Acc	p.A1935T	MYO18B_ENST00000335473.7_Missense_Mutation_p.A1934T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1934	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						GCTGGAGGAAGCCAAGAAGGA	0.438																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5800-5802)Gcc>Acc		myosin XVIIIB							39	44	42					22																	26346384		1954	4155	6109	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26346384G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5803G>A	22.37:g.26346384G>A	ENSP00000386096:p.Ala1935Thr					MYO18B_ENST00000407587.2_Missense_Mutation_p.A1935T|MYO18B_ENST00000536101.1_Missense_Mutation_p.A1934T	p.A1934T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			37	6050	+			1934			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5800G>A		.	.	.	.	.	.	.	.	.	.	G	13.98	2.399706	0.42512	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88046	-2.31;-2.31;-2.33	5.51	0.915	0.19366	.	0.363968	0.25780	N	0.028356	T	0.73713	0.3622	N	0.17474	0.49	0.24291	N	0.995169	B;B;B;B	0.18310	0.004;0.01;0.027;0.016	B;B;B;B	0.13407	0.009;0.004;0.009;0.009	T	0.60177	-0.7314	10	0.31617	T	0.26	.	9.1788	0.37129	0.3555:0.0:0.6444:0.0	.	1447;1934;1935;1934	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1934;1934;1935	ENSP00000441229:A1934T;ENSP00000334563:A1934T;ENSP00000386096:A1935T	ENSP00000334563:A1934T	A	+	1	0	MYO18B	24676384	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.721000	0.47260	0.281000	0.22233	-0.251000	0.11542	GCC		0.438	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		8	60	0	0	0	1	0	8	60					A	26346384	G	A	26346384	3	1	79	1	0	0	0	0	1	0	0	0	10107	971	34	2	5942	2	MYO18B	22	26346384	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121463	26346384	24958182	20860	31177											
MYO18B	84700	broad.mit.edu	37	chr22	26399271	26399271	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtggcagcagcggccgaaaaGagatgtaagttaaccccagg	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26399271G>A	ENST00000407587.2	+	41	6500	c.6331G>A	c.(6331-6333)Gag>Aag	p.E2111K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2110K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2110						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E2111Q(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						CGGCCGAAAAGAGATGTAAGT	0.542																																						ENST00000335473.7																			1	Substitution - Missense(1)	p.E2111Q(1)	skin(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						c.(6328-6330)Gag>Aag		myosin XVIIIB							56	64	62					22																	26399271		1993	4159	6152	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26399271G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6331G>A	22.37:g.26399271G>A	ENSP00000386096:p.Glu2111Lys					MYO18B_ENST00000407587.2_Missense_Mutation_p.E2111K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2110K	p.E2110K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			41	6578	+			2110					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.6328G>A		.	.	.	.	.	.	.	.	.	.	G	16.06	3.015121	0.54468	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86694	-2.14;-2.14;-2.16	4.29	4.29	0.51040	.	0.334578	0.25094	N	0.033186	D	0.89808	0.6822	L	0.57536	1.79	0.35715	D	0.816692	P;P;P;D	0.64830	0.827;0.956;0.932;0.994	P;P;P;P	0.59056	0.52;0.572;0.655;0.851	D	0.91894	0.5526	10	0.54805	T	0.06	.	12.548	0.56212	0.0:0.0:1.0:0.0	.	1623;2110;2111;2110	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	K	2110;2110;2111	ENSP00000441229:E2110K;ENSP00000334563:E2110K;ENSP00000386096:E2111K	ENSP00000334563:E2110K	E	+	1	0	MYO18B	24729271	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	3.817000	0.55668	2.683000	0.91414	0.557000	0.71058	GAG		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		14	52	0	0	0	1	0	14	52					A	26399271	G	A	26399271	3	1	79	1	0	0	0	0	1	0	0	0	10107	943	33	2	6486	2	MYO18B	22	26399271	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52887	26399271	24905295	20861	31178											
MYO18B	84700	broad.mit.edu	37	chr22	26423431	26423431	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttgaagaagagcccggaGcccaaggaggatcccgctca	12	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26423431G>T	ENST00000407587.2	+	43	7663	c.7494G>T	c.(7492-7494)gaG>gaT	p.E2498D	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2497D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2497						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						AGAGCCCGGAGCCCAAGGAGG	0.537																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7489-7491)gaG>gaT		myosin XVIIIB							62	66	64					22																	26423431		2008	4152	6160	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423431G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7494G>T	22.37:g.26423431G>T	ENSP00000386096:p.Glu2498Asp					MYO18B_ENST00000407587.2_Missense_Mutation_p.E2498D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2497D	p.E2497D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7741	+			2497					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7491G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.083909|3.083909	0.55861|0.55861	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.89343|.	-2.48;-2.48;-2.5|.	5.17|5.17	1.31|1.31	0.21738|0.21738	.|.	0.589854|.	0.15351|.	N|.	0.266962|.	T|T	0.42743|0.42743	0.1216|0.1216	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.67145|.	0.988;0.993;0.993;0.996;0.996|.	P;P;P;P;P|.	0.60609|.	0.829;0.757;0.757;0.877;0.877|.	T|T	0.31641|0.31641	-0.9936|-0.9936	10|5	0.54805|.	T|.	0.06|.	.|.	7.0998|7.0998	0.25330|0.25330	0.173:0.2663:0.5607:0.0|0.173:0.2663:0.5607:0.0	.|.	2010;2499;2497;2498;2497|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	D|I	2497;2497;2498|447	ENSP00000441229:E2497D;ENSP00000334563:E2497D;ENSP00000386096:E2498D|.	ENSP00000334563:E2497D|.	E|S	+|+	3|2	2|0	MYO18B|MYO18B	24753431|24753431	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.761000|0.761000	0.43186|0.43186	0.422000|0.422000	0.21296|0.21296	0.537000|0.537000	0.28751|0.28751	0.561000|0.561000	0.74099|0.74099	GAG|AGC		0.537	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		45	174	1	0	1.15505e-17	1	1.27701e-17	45	174					T	26423431	G	T	26423431	3	4	79	1	0	0	0	0	1	0	0	0	10107	962	34	3	7657	3	MYO18B	22	26423431	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24160	26423431	24881135	20862	31179											
SEZ6L	23544	broad.mit.edu	37	chr22	26761510	26761510	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacagccatcccactggaaCgggcccctgcccgtgtgtaa	12	15	0	0	rs149968977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26761510C>T	ENST00000248933.6	+	13	2867	c.2772C>T	c.(2770-2772)aaC>aaT	p.N924N	SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000529632.2_Silent_p.N924N|SEZ6L_ENST00000402979.1_Silent_p.N697N|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000404234.3_Silent_p.N924N			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	924	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCACTGGAACGGGCCCCTGC	0.577																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2770-2772)aaC>aaT		seizure related 6 homolog (mouse)-like		C	,,,,,	0,4406		0,0,2203	68	63	65		2772,2772,2772,2580,,2772	-2.9	1	22	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	924/1024,924/1014,924/1012,860/950,,924/1025	26761510	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26761510C>T	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.2772C>T	22.37:g.26761510C>T						SEZ6L_ENST00000248933.6_Silent_p.N924N|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Silent_p.N121N|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000360929.3_Silent_p.N860N|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.N924N|SEZ6L_ENST00000402979.1_Silent_p.N697N	p.N924N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			13	2968	+			924			Sushi 5.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.2772C>T	CCDS13833.1																																																																																				0.577	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			41	230	0	0	0	1	0	41	230					T	26761510	C	T	26761510	2	4	79	1	0	0	0	0	0	0	0	1	14193	535	19	1		1	SEZ6L	22	26761510	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	338079	26761510	24543056	20863	31180											
ASPHD2	57168	broad.mit.edu	37	chr22	26830336	26830336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgcccacggacgtaccGcttgctcggaagccttcgga	13	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26830336G>A	ENST00000215906.5	+	2	1193	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	252					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGGACGTACCGCTTGCTCGGA	0.537																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(754-756)cGc>cAc		aspartate beta-hydroxylase domain containing 2							156	148	151					22																	26830336		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830336G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.755G>A	22.37:g.26830336G>A	ENSP00000215906:p.Arg252His						p.R252H	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	1193	+			252					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.755G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652026	0.88056	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67256	-0.5716	10	0.51188	T	0.08	-44.4226	17.0945	0.86631	0.0:0.0:1.0:0.0	.	252	Q6ICH7	ASPH2_HUMAN	H	252	ENSP00000215906:R252H	ENSP00000215906:R252H	R	+	2	0	ASPHD2	25160336	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	CGC		0.537	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		125	510	0	0	0	1	0	125	510					A	26830336	G	A	26830336	3	1	79	1	0	0	0	0	1	0	0	0	1056	1087	38	1	757	1	ASPHD2	22	26830336	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68826	26830336	24474230	20864	31181											
ASPHD2	57168	broad.mit.edu	37	chr22	26838423	26838423	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctggttttcctacaAggtctgaaaactccaaatgg	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26838423A>G	ENST00000215906.5	+	3	1324		c.e3-1		HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2						peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTCCTACAAGGTCTGAAAA	0.517																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.e3-1		aspartate beta-hydroxylase domain containing 2							112	120	117					22																	26838423		2203	4300	6503	SO:0001630	splice_region_variant	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26838423A>G	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.887-1A>G	22.37:g.26838423A>G								NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			3	1324	+								B2RCH3|Q7L0W3|Q9NSN3	Splice_Site	SNP	ENST00000215906.5	37		CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	12.33	1.905827	0.33628	.	.	ENSG00000128203	ENST00000215906	.	.	.	4.35	-0.369	0.12534	.	.	.	.	.	.	.	.	.	.	.	0.46521	D	0.999083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8781	0.13665	0.6668:0.1526:0.1806:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASPHD2	25168423	1.000000	0.71417	0.015000	0.15790	0.431000	0.31685	8.271000	0.89883	-0.227000	0.09884	0.533000	0.62120	.		0.517	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437	Intron	77	685	0	0	0	1	0	77	685					G	26838423	A	G	26838423	5	3	79	1	0	0	0	0	0	0	1	0	1056	86	3	4	891	4	ASPHD2	22	26838423	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8087	26838423	24466143	20865	31182											
HPS4	89781	broad.mit.edu	37	chr22	26854526	26854526	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acttccagcccattcagtgaAgccaggctgctgtggtactg	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26854526A>C	ENST00000398145.2	-	12	2347	c.1731T>G	c.(1729-1731)gcT>gcG	p.A577A	HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000398141.1_Silent_p.A590A|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Silent_p.A572A	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	577					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						CATTCAGTGAAGCCAGGCTGC	0.552									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1729-1731)gcT>gcG		Hermansky-Pudlak syndrome 4							68	54	59					22																	26854526		2203	4300	6503	SO:0001819	synonymous_variant	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26854526A>C		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.1731T>G	22.37:g.26854526A>C						HPS4_ENST00000336873.5_Silent_p.A577A|HPS4_ENST00000402105.3_Silent_p.A572A|HPS4_ENST00000398141.1_Silent_p.A590A|HPS4_ENST00000493455.2_5'UTR	p.A577A	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			12	2347	-			577					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	c.1731T>G	CCDS13835.1																																																																																				0.552	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		24	159	0	0	0	1	0	24	159					C	26854526	A	C	26854526	2	2	79	1	0	0	0	0	0	0	0	1	7371	59	3	4		4	HPS4	22	26854526	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	16103	26854526	24450040	20866	31183											
HPS4	89781	broad.mit.edu	37	chr22	26859939	26859939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcagccagcagggacaGcaccagccctttgacgcagt	10	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26859939G>T	ENST00000398145.2	-	11	2273	c.1657C>A	c.(1657-1659)Ctg>Atg	p.L553M	HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	553					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						AGCAGGGACAGCACCAGCCCT	0.617									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1657-1659)Ctg>Atg		Hermansky-Pudlak syndrome 4							59	53	55					22																	26859939		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26859939G>T		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.1657C>A	22.37:g.26859939G>T	ENSP00000381213:p.Leu553Met					HPS4_ENST00000336873.5_Missense_Mutation_p.L553M|HPS4_ENST00000402105.3_Missense_Mutation_p.L548M|HPS4_ENST00000398141.1_Missense_Mutation_p.L566M|HPS4_ENST00000493455.2_5'UTR	p.L553M	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	2273	-			553					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1657C>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407513	0.62399	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.27	4.25	0.50352	.	0.000000	0.64402	D	0.000007	T	0.47893	0.1470	M	0.77103	2.36	0.30626	N	0.758025	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999	T	0.52601	-0.8554	10	0.87932	D	0	-12.515	8.5227	0.33287	0.176:0.0:0.824:0.0	.	553;553;553;553;566;548	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	M	553;566;548;553	ENSP00000381213:L553M;ENSP00000381210:L566M;ENSP00000384185:L548M;ENSP00000338457:L553M	ENSP00000338457:L553M	L	-	1	2	HPS4	25189939	1.000000	0.71417	0.999000	0.59377	0.673000	0.39480	2.519000	0.45546	2.461000	0.83175	0.655000	0.94253	CTG		0.617	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		9	269	1	0	0.00621372	1	0.0062537	9	269					T	26859939	G	T	26859939	3	4	79	1	0	0	0	0	1	0	0	0	7371	962	34	3	485	3	HPS4	22	26859939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5413	26859939	24444627	20867	31184											
HPS4	89781	broad.mit.edu	37	chr22	26860621	26860621	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggccagacaagcatccGttctccttcctgccatctgg	8	15	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26860621G>A	ENST00000398145.2	-	11	1591	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000398141.1_Silent_p.N338N|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Silent_p.N320N	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	325					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						ACAAGCATCCGTTCTCCTTCC	0.597									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(973-975)aaC>aaT		Hermansky-Pudlak syndrome 4							95	87	90					22																	26860621		2203	4300	6503	SO:0001819	synonymous_variant	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860621G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.975C>T	22.37:g.26860621G>A						HPS4_ENST00000336873.5_Silent_p.N325N|HPS4_ENST00000402105.3_Silent_p.N320N|HPS4_ENST00000398141.1_Silent_p.N338N	p.N325N	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			11	1591	-			325					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	c.975C>T	CCDS13835.1																																																																																				0.597	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		85	379	0	0	0	1	0	85	379					A	26860621	G	A	26860621	2	1	79	1	0	0	0	0	0	0	0	1	7371	1136	40	1		1	HPS4	22	26860621	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	682	26860621	24443945	20868	31185											
HPS4	89781	broad.mit.edu	37	chr22	26861460	26861460	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactcgtggagactaatgGcttcctctttggtcacaaaa	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26861460G>T	ENST00000398145.2	-	10	1380	c.764C>A	c.(763-765)gCc>gAc	p.A255D	HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	255					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						GAGACTAATGGCTTCCTCTTT	0.512									Hermansky-Pudlak syndrome																													ENST00000398145.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(763-765)gCc>gAc		Hermansky-Pudlak syndrome 4							134	117	123					22																	26861460		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26861460G>T		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.764C>A	22.37:g.26861460G>T	ENSP00000381213:p.Ala255Asp					HPS4_ENST00000336873.5_Missense_Mutation_p.A255D|HPS4_ENST00000402105.3_Missense_Mutation_p.A250D|HPS4_ENST00000398141.1_Missense_Mutation_p.A268D	p.A255D	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN			10	1380	-			255					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.764C>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614690	0.28712	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873;ENST00000312736;ENST00000422379	T;D;T;T;D	0.88741	1.36;-2.42;1.36;1.36;-2.42	4.6	1.76	0.24704	.	1.063930	0.07167	N	0.851742	D	0.91026	0.7177	L	0.55481	1.735	0.09310	N	1	D;P;P;D;B;P	0.69078	0.997;0.944;0.944;0.997;0.413;0.944	D;P;P;D;B;P	0.64410	0.925;0.733;0.66;0.925;0.319;0.66	T	0.77640	-0.2512	10	0.36615	T	0.2	-6.8662	5.997	0.19499	0.4162:0.0:0.5838:0.0	.	255;255;255;255;268;250	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	D	255;268;250;255;273;273	ENSP00000381213:A255D;ENSP00000381210:A268D;ENSP00000384185:A250D;ENSP00000338457:A255D;ENSP00000415081:A273D	ENSP00000325840:A273D	A	-	2	0	HPS4	25191460	0.811000	0.29063	0.177000	0.23020	0.024000	0.10985	1.182000	0.32029	0.262000	0.21774	0.655000	0.94253	GCC		0.512	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		60	277	1	0	4.46356e-37	1	5.35602e-37	60	277					T	26861460	G	T	26861460	3	4	79	1	0	0	0	0	1	0	0	0	7371	1203	42	3	1382	3	HPS4	22	26861460	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	839	26861460	24443106	20869	31186											
SRRD	402055	broad.mit.edu	37	chr22	26887573	26887573	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttcgggaagaaccagatTatcaggactgtgaggacctt	12	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26887573T>C	ENST00000215917.7	+	7	969	c.955T>C	c.(955-957)Tat>Cat	p.Y319H	TFIP11_ENST00000407690.1_3'UTR	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	319					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAACCAGATTATCAGGACTG	0.443																																						ENST00000215917.6																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(955-957)Tat>Cat		SRR1 domain containing							78	75	76					22																	26887573		1886	4124	6010	SO:0001583	missense	402055				rhythmic process			g.chr22:26887573T>C	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"hepatocellular carcinoma complicating hemochromatosis"	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.955T>C	22.37:g.26887573T>C	ENSP00000215917:p.Tyr319His					TFIP11_ENST00000407690.1_3'UTR	p.Y319H	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			7	969	+			319					Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.955T>C	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089490	0.76756	.	.	ENSG00000100104	ENST00000215917	T	0.62788	-0.0	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	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	D	0.83602	0.0129	10	0.87932	D	0	-21.2371	14.7198	0.69297	0.0:0.0:0.0:1.0	.	319;312	Q9UH36;B4DF37	SRR1L_HUMAN;.	H	319	ENSP00000215917:Y319H	ENSP00000215917:Y319H	Y	+	1	0	SRRD	25217573	1.000000	0.71417	0.036000	0.18154	0.989000	0.77384	5.459000	0.66685	2.251000	0.74343	0.528000	0.53228	TAT		0.443	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		12	306	0	0	0	1	0	12	306					C	26887573	T	C	26887573	3	2	79	1	0	0	0	0	1	0	0	0	15219	1754	61	4	981	4	SRRD	22	26887573	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	26113	26887573	24416993	20870	31187											
TFIP11	24144	broad.mit.edu	37	chr22	26888122	26888122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtgtcgcttcccaatgaCgggcatgaagacaatgttgt	11	9	0	3	rs574318611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26888122C>T	ENST00000407690.1	-	15	2654	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	791					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						TTCCCAATGACGGGCATGAAG	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23169	0.0		0.0	False		,,,				2504	0.0					ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(2371-2373)Gtc>Atc		tuftelin interacting protein 11							129	89	103					22																	26888122		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26888122C>T	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.2371G>A	22.37:g.26888122C>T	ENSP00000384421:p.Val791Ile					TFIP11_ENST00000407148.1_Missense_Mutation_p.V791I|TFIP11_ENST00000405938.1_Missense_Mutation_p.V791I|TFIP11_ENST00000407431.1_Missense_Mutation_p.V791I	p.V791I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			15	2654	-			791					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.2371G>A	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	1.865	-0.461641	0.04508	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.39	4.38	0.52667	.	0.319967	0.34986	N	0.003532	T	0.19127	0.0459	N	0.03154	-0.405	0.36149	D	0.8473	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.12426	-1.0548	10	0.28530	T	0.3	-46.7661	9.261	0.37612	0.0:0.7793:0.1446:0.0761	.	791;150	Q9UBB9;Q9UBB9-2	TFP11_HUMAN;.	I	791;791;791;476;791	ENSP00000384421:V791I;ENSP00000383892:V791I;ENSP00000385861:V791I;ENSP00000384297:V791I	ENSP00000384297:V791I	V	-	1	0	TFIP11	25218122	0.151000	0.22747	0.899000	0.35326	0.894000	0.52154	0.442000	0.21628	1.515000	0.48885	-0.137000	0.14449	GTC		0.562	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		55	223	0	0	0	1	0	55	223					T	26888122	C	T	26888122	3	4	79	1	0	0	0	0	1	0	0	0	15859	536	19	1	146	1	TFIP11	22	26888122	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	549	26888122	24416444	20871	31188											
TFIP11	24144	broad.mit.edu	37	chr22	26902834	26902834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaactctgcctcctcCgctgcccctttcttgagccc	5	20	3	1	rs375849058		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26902834C>T	ENST00000407690.1	-	5	553	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TFIP11_ENST00000407431.1_Silent_p.A90A|TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000407148.1_Silent_p.A90A|TFIP11_ENST00000496523.1_5'Flank	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	90					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						CTGCCTCCTCCGCTGCCCCTT	0.517																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(268-270)gcG>gcA		tuftelin interacting protein 11		C	,	1,4405	2.1+/-5.4	0,1,2202	88	81	84		270,270	-7.6	0.7	22		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TFIP11	NM_001008697.1,NM_012143.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	90/838,90/838	26902834	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26902834C>T	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.270G>A	22.37:g.26902834C>T						TFIP11_ENST00000407148.1_Silent_p.A90A|TFIP11_ENST00000405938.1_Silent_p.A90A|TFIP11_ENST00000407431.1_Silent_p.A90A	p.A90A	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			5	553	-			90					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	c.270G>A	CCDS13838.1																																																																																				0.517	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		42	414	0	0	0	1	0	42	414					T	26902834	C	T	26902834	2	4	79	1	0	0	0	0	0	0	0	1	15859	639	23	1		1	TFIP11	22	26902834	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14712	26902834	24401732	20872	31189											
TPST2	8459	broad.mit.edu	37	chr22	26937351	26937351	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagcatggcgcgcatcaaCgtggtgccactgcgaggcac	13	14	1	0	rs200681170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26937351C>T	ENST00000338754.4	-	3	516	c.246G>A	c.(244-246)acG>acA	p.T82T	TPST2_ENST00000403880.1_Silent_p.T82T|TPST2_ENST00000398110.2_Silent_p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	82					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						CGCGCATCAACGTGGTGCCAC	0.672																																						ENST00000338754.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)	7						c.(244-246)acG>acA		tyrosylprotein sulfotransferase 2							52	38	42					22																	26937351		2203	4290	6493	SO:0001819	synonymous_variant	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937351C>T	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.246G>A	22.37:g.26937351C>T						TPST2_ENST00000398110.2_Silent_p.T82T|TPST2_ENST00000403880.1_Silent_p.T82T	p.T82T	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN			3	516	-			82					B3KQA7|Q6FI98|Q9H0V4	Silent	SNP	ENST00000338754.4	37	c.246G>A	CCDS13839.1																																																																																				0.672	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		42	156	0	0	0	1	0	42	156					T	26937351	C	T	26937351	2	4	79	1	0	0	0	0	0	0	0	1	16481	523	19	1		1	TPST2	22	26937351	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34517	26937351	24367215	20873	31190											
CRYBA4	1413	broad.mit.edu	37	chr22	27021478	27021478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcatgctggcttccaaggGcagcagtacattctggaacg	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:27021478G>A	ENST00000354760.3	+	4	227	c.192G>A	c.(190-192)ggG>ggA	p.G64G	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	64	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTCCAAGGGCAGCAGTACA	0.617																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(190-192)ggG>ggA		crystallin, beta A4							120	111	114					22																	27021478		2203	4300	6503	SO:0001819	synonymous_variant	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021478G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.192G>A	22.37:g.27021478G>A						CRYBA4_ENST00000466315.1_3'UTR	p.G64G	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			4	227	+			64			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Silent	SNP	ENST00000354760.3	37	c.192G>A	CCDS13841.1																																																																																				0.617	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		174	829	0	0	0	1	0	174	829					A	27021478	G	A	27021478	2	1	79	1	0	0	0	0	0	0	0	1	3918	1190	42	2		2	CRYBA4	22	27021478	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84127	27021478	24283088	20874	31191											
MN1	4330	broad.mit.edu	37	chr22	28193583	28193583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttcccccgacggctgcGcctgacgcttgctgctgccc	12	18	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193583G>A	ENST00000302326.4	-	1	3903	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	983					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						CGACGGCTGCGCCTGACGCTT	0.706			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2947-2949)ggC>ggT		meningioma (disrupted in balanced translocation) 1							8	11	10					22																	28193583		1947	4053	6000	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193583G>A	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.2949C>T	22.37:g.28193583G>A							p.G983G	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3903	-			983					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2949C>T	CCDS42998.1																																																																																				0.706	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		27	127	0	0	0	1	0	27	127					A	28193583	G	A	28193583	2	1	79	1	0	0	0	0	0	0	0	1	9714	1074	38	1		1	MN1	22	28193583	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1172105	28193583	23110983	20875	31192											
MN1	4330	broad.mit.edu	37	chr22	28193973	28193973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtttcctcttgccctctggCgggttcttcttgttgaaggt	11	10	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193973C>T	ENST00000302326.4	-	1	3513	c.2559G>A	c.(2557-2559)ccG>ccA	p.P853P		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853					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						TGCCCTCTGGCGGGTTCTTCT	0.652			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2557-2559)ccG>ccA		meningioma (disrupted in balanced translocation) 1							72	79	77					22																	28193973		1886	4093	5979	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193973C>T	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.2559G>A	22.37:g.28193973C>T							p.P853P	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3513	-			853					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2559G>A	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		163	664	0	0	0	1	0	163	664					T	28193973	C	T	28193973	2	4	79	1	0	0	0	0	0	0	0	1	9714	755	27	1		1	MN1	22	28193973	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	390	28193973	23110593	20876	31193											
MN1	4330	broad.mit.edu	37	chr22	28195094	28195094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgattatccagagcgcCgttgtgcatgctgccgttcc	13	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28195094C>T	ENST00000302326.4	-	1	2392	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	480					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						TCCAGAGCGCCGTTGTGCATG	0.682			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1438-1440)Ggc>Agc		meningioma (disrupted in balanced translocation) 1							16	20	19					22																	28195094		2115	4230	6345	SO:0001583	missense	4330						binding	g.chr22:28195094C>T	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.1438G>A	22.37:g.28195094C>T	ENSP00000304956:p.Gly480Ser						p.G480S	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2392	-			480					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.1438G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100381	0.56183	.	.	ENSG00000169184	ENST00000302326	T	0.45668	0.89	4.54	4.54	0.55810	.	0.220885	0.31156	N	0.008158	T	0.21962	0.0529	N	0.14661	0.345	0.27568	N	0.94996	P	0.38300	0.626	B	0.29267	0.1	T	0.10520	-1.0626	10	0.25751	T	0.34	-14.7531	12.6665	0.56846	0.0:0.8326:0.1674:0.0	.	480	Q10571	MN1_HUMAN	S	480	ENSP00000304956:G480S	ENSP00000304956:G480S	G	-	1	0	MN1	26525094	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	2.263000	0.43293	2.074000	0.62210	0.313000	0.20887	GGC		0.682	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		26	134	0	0	0	1	0	26	134					T	28195094	C	T	28195094	3	4	79	1	0	0	0	0	1	0	0	0	9714	652	23	1	2532	1	MN1	22	28195094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1121	28195094	23109472	20877	31194											
MN1	4330	broad.mit.edu	37	chr22	28196327	28196327	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggccgcgcgcgtggaagcCgtagggctccatgttcatgc	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196327C>T	ENST00000302326.4	-	1	1159	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	69					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						GCGTGGAAGCCGTAGGGCTCC	0.701			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(205-207)Ggc>Agc		meningioma (disrupted in balanced translocation) 1							29	34	33					22																	28196327		1952	4121	6073	SO:0001583	missense	4330						binding	g.chr22:28196327C>T	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.205G>A	22.37:g.28196327C>T	ENSP00000304956:p.Gly69Ser						p.G69S	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1159	-			69					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.205G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697807	0.88830	.	.	ENSG00000169184	ENST00000302326	T	0.72725	-0.68	4.87	4.87	0.63330	.	0.060842	0.64402	D	0.000004	T	0.75191	0.3816	L	0.29908	0.895	0.53688	D	0.99997	D	0.76494	0.999	D	0.63033	0.91	T	0.78947	-0.2003	10	0.87932	D	0	-15.6058	16.9428	0.86222	0.0:1.0:0.0:0.0	.	69	Q10571	MN1_HUMAN	S	69	ENSP00000304956:G69S	ENSP00000304956:G69S	G	-	1	0	MN1	26526327	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.882000	0.63121	2.400000	0.81607	0.561000	0.74099	GGC		0.701	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		68	287	0	0	0	1	0	68	287					T	28196327	C	T	28196327	3	4	79	1	0	0	0	0	1	0	0	0	9714	652	23	1	3765	1	MN1	22	28196327	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1233	28196327	23108239	20878	31195											
MN1	4330	broad.mit.edu	37	chr22	28196482	28196482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaagttcctctcgccctggCcagcgttcctgctgttgacc	9	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196482C>T	ENST00000302326.4	-	1	1004	c.50G>A	c.(49-51)gGc>gAc	p.G17D		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	17					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						CTCGCCCTGGCCAGCGTTCCT	0.622			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(49-51)gGc>gAc		meningioma (disrupted in balanced translocation) 1							56	61	59					22																	28196482		2001	4167	6168	SO:0001583	missense	4330						binding	g.chr22:28196482C>T	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.50G>A	22.37:g.28196482C>T	ENSP00000304956:p.Gly17Asp						p.G17D	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1004	-			17					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.50G>A	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889768	0.72524	.	.	ENSG00000169184	ENST00000302326	T	0.72051	-0.62	4.6	4.6	0.57074	.	0.060889	0.64402	D	0.000005	T	0.74959	0.3785	L	0.27053	0.805	0.53005	D	0.99996	D	0.67145	0.996	D	0.67725	0.953	T	0.79220	-0.1893	10	0.87932	D	0	-16.2213	16.3356	0.83059	0.0:1.0:0.0:0.0	.	17	Q10571	MN1_HUMAN	D	17	ENSP00000304956:G17D	ENSP00000304956:G17D	G	-	2	0	MN1	26526482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.894000	0.75655	2.249000	0.74217	0.462000	0.41574	GGC		0.622	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		10	287	0	0	0	1	0	10	287					T	28196482	C	T	28196482	3	4	79	1	0	0	0	0	1	0	0	0	9714	739	26	2	3920	2	MN1	22	28196482	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	28196482	23108084	20879	31196											
PITPNB	23760	broad.mit.edu	37	chr22	28269748	28269748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagttgggtcccaaagggCctctcttggtcttgactgac	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28269748C>T	ENST00000335272.5	-	8	588	c.512G>A	c.(511-513)gGc>gAc	p.G171D	PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	171					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TCCCAAAGGGCCTCTCTTGGT	0.488																																						ENST00000335272.5																			0				large_intestine(4)|lung(3)|skin(1)	8						c.(511-513)gGc>gAc		phosphatidylinositol transfer protein, beta							87	74	78					22																	28269748		2203	4300	6503	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28269748C>T	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.512G>A	22.37:g.28269748C>T	ENSP00000334738:p.Gly171Asp					PITPNB_ENST00000455418.3_Missense_Mutation_p.G173D|PITPNB_ENST00000320996.10_Missense_Mutation_p.G171D	p.G171D	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN			8	588	-			171					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.512G>A	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344218	0.82022	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.7	4.68	0.58851	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	H	0.96861	3.895	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	0.89831	0.3996	10	0.87932	D	0	-30.9357	13.5209	0.61568	0.0:0.9246:0.0:0.0754	.	173;171;171	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	D	171;171;173;98	ENSP00000334738:G171D;ENSP00000321266:G171D;ENSP00000405179:G173D;ENSP00000406542:G98D	ENSP00000321266:G171D	G	-	2	0	PITPNB	26599748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.081000	0.71309	1.410000	0.46936	0.655000	0.94253	GGC		0.488	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1			36	131	0	0	0	1	0	36	131					T	28269748	C	T	28269748	3	4	79	1	0	0	0	0	1	0	0	0	11990	739	26	2	319	2	PITPNB	22	28269748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	73266	28269748	23034818	20880	31197											
CCDC117	150275	broad.mit.edu	37	chr22	29182081	29182081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtattttatgtcttaggagcCgtccttccatggagcttgtt	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29182081C>T	ENST00000249064.4	+	5	783	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C|CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	203										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TCTTAGGAGCCGTCCTTCCAT	0.398																																						ENST00000249064.4																			0				breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						c.(607-609)Cgt>Tgt		coiled-coil domain containing 117							66	67	67					22																	29182081		2203	4300	6503	SO:0001583	missense	150275							g.chr22:29182081C>T	AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.607C>T	22.37:g.29182081C>T	ENSP00000249064:p.Arg203Cys					CCDC117_ENST00000443309.2_Missense_Mutation_p.R71C|CCDC117_ENST00000448492.2_Missense_Mutation_p.R185C|CCDC117_ENST00000421503.2_Missense_Mutation_p.R128C	p.R203C	NM_173510.2	NP_775781.1	Q8IWD4	CC117_HUMAN			5	783	+			203					A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	ENST00000249064.4	37	c.607C>T	CCDS13846.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667348	0.88348	.	.	ENSG00000159873	ENST00000249064;ENST00000448492;ENST00000421503;ENST00000443309	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.94	5.94	0.96194	.	0.057185	0.64402	D	0.000001	T	0.34745	0.0908	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02269	-1.1185	10	0.87932	D	0	.	19.3473	0.94370	0.0:1.0:0.0:0.0	.	128;185;203	B7Z2V1;B7Z860;Q8IWD4	.;.;CC117_HUMAN	C	203;185;128;71	ENSP00000249064:R203C;ENSP00000389478:R185C;ENSP00000387827:R128C;ENSP00000399363:R71C	ENSP00000249064:R203C	R	+	1	0	CCDC117	27512081	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.000000	0.63940	2.816000	0.96949	0.561000	0.74099	CGT		0.398	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321258.1	NM_173510		12	283	0	0	0	1	0	12	283					T	29182081	C	T	29182081	3	4	79	1	0	0	0	0	1	0	0	0	2761	652	23	1	625	1	CCDC117	22	29182081	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	912333	29182081	22122485	20881	31198											
ZNRF3	84133	broad.mit.edu	37	chr22	29445738	29445738	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgccctcccacctggagagCggcagcacgtccagcttcag	11	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29445738C>T	ENST00000544604.2	+	8	1744	c.1569C>T	c.(1567-1569)agC>agT	p.S523S	ZNRF3_ENST00000332811.4_Silent_p.S423S|ZNRF3_ENST00000406323.3_Silent_p.S423S|ZNRF3_ENST00000402174.1_Silent_p.S423S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	523					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						ACCTGGAGAGCGGCAGCACGT	0.711																																						ENST00000544604.2																			0				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						c.(1567-1569)agC>agT		zinc and ring finger 3							15	16	16					22																	29445738		2082	4198	6280	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29445738C>T	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.1569C>T	22.37:g.29445738C>T						ZNRF3_ENST00000402174.1_Silent_p.S423S|ZNRF3_ENST00000406323.3_Silent_p.S423S|ZNRF3_ENST00000332811.4_Silent_p.S423S	p.S523S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	1744	+			523					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.1569C>T	CCDS56225.1																																																																																				0.711	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		8	186	0	0	0	1	0	8	186					T	29445738	C	T	29445738	2	4	79	1	0	0	0	0	0	0	0	1	18266	767	27	1		1	ZNRF3	22	29445738	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	263657	29445738	21858828	20882	31199											
ZNRF3	84133	broad.mit.edu	37	chr22	29446300	29446300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccacgagttgccgtcgtgtGcctgctgctgcgagccccag	14	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446300G>A	ENST00000544604.2	+	8	2306	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	711					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						GCCGTCGTGTGCCTGCTGCTG	0.697																																						ENST00000544604.2																			0				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						c.(2131-2133)Gcc>Acc		zinc and ring finger 3							10	12	11					22																	29446300		1936	4099	6035	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446300G>A	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.2131G>A	22.37:g.29446300G>A	ENSP00000443824:p.Ala711Thr					ZNRF3_ENST00000402174.1_Missense_Mutation_p.A611T|ZNRF3_ENST00000406323.3_Missense_Mutation_p.A611T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A611T	p.A711T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2306	+			711					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.2131G>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	9.245	1.039167	0.19669	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.01	-0.87	0.10646	.	0.391529	0.31721	N	0.007180	T	0.71108	0.3301	L	0.45581	1.43	0.26122	N	0.980535	B	0.18863	0.031	B	0.13407	0.009	T	0.56214	-0.8016	10	0.26408	T	0.33	-15.1449	6.8353	0.23933	0.2316:0.2021:0.5663:0.0	.	711	Q9ULT6	ZNRF3_HUMAN	T	711;611;418;611;611	ENSP00000443824:A711T;ENSP00000328614:A611T;ENSP00000384456:A611T;ENSP00000384553:A611T	ENSP00000328614:A611T	A	+	1	0	ZNRF3	27776300	0.995000	0.38212	0.990000	0.47175	0.411000	0.31082	1.868000	0.39509	0.515000	0.28320	-0.140000	0.14226	GCC		0.697	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		38	146	0	0	0	1	0	38	146					A	29446300	G	A	29446300	3	1	79	1	0	0	0	0	1	0	0	0	18266	1319	46	2	1857	2	ZNRF3	22	29446300	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	562	29446300	21858266	20883	31200											
ZNRF3	84133	broad.mit.edu	37	chr22	29446426	29446426	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggtggggagccccagtcaGgaagctcccagggcttgtac	16	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446426G>A	ENST00000544604.2	+	8	2432	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	753					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						GCCCCAGTCAGGAAGCTCCCA	0.657																																						ENST00000544604.2																			0				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						c.(2257-2259)Gga>Aga		zinc and ring finger 3							13	15	14					22																	29446426		1851	4004	5855	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29446426G>A	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.2257G>A	22.37:g.29446426G>A	ENSP00000443824:p.Gly753Arg					ZNRF3_ENST00000402174.1_Missense_Mutation_p.G653R|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G653R|ZNRF3_ENST00000332811.4_Missense_Mutation_p.G653R	p.G753R	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			8	2432	+			753					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.2257G>A	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664858	0.29604	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.07	4.05	0.47172	.	0.507057	0.20123	N	0.098748	T	0.80649	0.4663	L	0.51422	1.61	0.20489	N	0.999896	D	0.61697	0.99	P	0.58780	0.845	T	0.71497	-0.4575	10	0.87932	D	0	-6.7721	9.2661	0.37641	0.1644:0.0:0.8356:0.0	.	753	Q9ULT6	ZNRF3_HUMAN	R	753;653;460;653;653	ENSP00000443824:G753R;ENSP00000328614:G653R;ENSP00000384456:G653R;ENSP00000384553:G653R	ENSP00000328614:G653R	G	+	1	0	ZNRF3	27776426	0.999000	0.42202	0.053000	0.19242	0.075000	0.17131	3.091000	0.50199	1.267000	0.44247	0.655000	0.94253	GGA		0.657	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		48	168	0	0	0	1	0	48	168					A	29446426	G	A	29446426	3	1	79	1	0	0	0	0	1	0	0	0	18266	1001	35	2	1983	2	ZNRF3	22	29446426	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	126	29446426	21858140	20884	31201											
C22orf31	25770	broad.mit.edu	37	chr22	29455169	29455169	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcctttgaactttctttaCtctagccaggaagaaagcag	7	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29455169C>T	ENST00000216071.4	-	3	485	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	145										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						ACTTTCTTTACTCTAGCCAGG	0.458																																						ENST00000216071.4																			0				cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						c.e3-1		chromosome 22 open reading frame 31							72	69	70					22																	29455169		2203	4300	6503	SO:0001630	splice_region_variant	25770							g.chr22:29455169C>T	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.433-1G>A	22.37:g.29455169C>T							p.S145_splice	NM_015370.1	NP_056185.1	O95567	CV031_HUMAN			3	485	-			145					A0AV97	Splice_Site	SNP	ENST00000216071.4	37	c.432_splice	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768448	0.49680	.	.	ENSG00000100249	ENST00000216071	T	0.37058	1.22	5.64	4.63	0.57726	.	0.427481	0.24094	N	0.041604	T	0.27169	0.0666	L	0.27053	0.805	0.27086	N	0.962966	B	0.19073	0.033	B	0.26202	0.067	T	0.18272	-1.0342	10	0.45353	T	0.12	-2.0501	10.3455	0.43903	0.0:0.9126:0.0:0.0874	.	145	O95567	CV031_HUMAN	N	145	ENSP00000216071:S145N	ENSP00000216071:S145N	S	-	2	0	C22orf31	27785169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.988000	0.40697	1.628000	0.50416	0.650000	0.86243	AGT		0.458	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370	Missense_Mutation	18	410	0	0	0	1	0	18	410					T	29455169	C	T	29455169	5	4	79	1	0	0	0	0	0	0	1	0	2150	579	20	2	442	2	C22orf31	22	29455169	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8743	29455169	21849397	20885	31202											
KREMEN1	83999	broad.mit.edu	37	chr22	29517357	29517357	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctttagtgcctggaaaccTtggctgctacaaggatcatg	10	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29517357T>G	ENST00000407188.1	+	4	359	c.359T>G	c.(358-360)cTt>cGt	p.L120R	KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R|KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000400338.2_Missense_Mutation_p.L122R			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	120	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTGGAAACCTTGGCTGCTAC	0.423																																						ENST00000400338.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						c.(364-366)cTt>cGt		kringle containing transmembrane protein 1							91	92	92					22																	29517357		2100	4230	6330	SO:0001583	missense	0				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29517357T>G	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.359T>G	22.37:g.29517357T>G	ENSP00000385431:p.Leu120Arg					KREMEN1_ENST00000407188.1_Missense_Mutation_p.L120R|KREMEN1_ENST00000327813.5_Missense_Mutation_p.L122R|KREMEN1_ENST00000400335.4_Missense_Mutation_p.L122R	p.L122R			Q96MU8	KREM1_HUMAN			4	418	+			120			WSC.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.365T>G	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.134638	0.77662	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.14	5.14	0.70334	Carbohydrate-binding WSC (2);Kringle (1);Kringle-like fold (1);	0.000000	0.52532	D	0.000065	T	0.74291	0.3697	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.997	T	0.73720	-0.3894	10	0.31617	T	0.26	.	13.2238	0.59903	0.0:0.0:0.0:1.0	.	120;122;122	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	R	122;122;122;120	ENSP00000383189:L122R;ENSP00000383192:L122R;ENSP00000331242:L122R;ENSP00000385431:L120R	ENSP00000331242:L122R	L	+	2	0	KREMEN1	27847357	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.474000	0.81024	2.075000	0.62263	0.460000	0.39030	CTT		0.423	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			99	410	0	0	0	1	0	99	410					G	29517357	T	G	29517357	3	3	79	1	0	0	0	0	1	0	0	0	8472	1609	56	4	379	4	KREMEN1	22	29517357	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62188	29517357	21787209	20886	31203											
KREMEN1	83999	broad.mit.edu	37	chr22	29533635	29533635	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctgatcgcatcaatcagGcccagggatttgctgtttta	9	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29533635G>A	ENST00000407188.1	+	6	931	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T|KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000400338.2_Missense_Mutation_p.A313T			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	311	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CATCAATCAGGCCCAGGGATT	0.532																																						ENST00000400338.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						c.(937-939)Gcc>Acc		kringle containing transmembrane protein 1							68	66	67					22																	29533635		1948	4138	6086	SO:0001583	missense	0				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding	g.chr22:29533635G>A	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.931G>A	22.37:g.29533635G>A	ENSP00000385431:p.Ala311Thr					KREMEN1_ENST00000407188.1_Missense_Mutation_p.A311T|KREMEN1_ENST00000327813.5_Missense_Mutation_p.A313T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A313T	p.A313T			Q96MU8	KREM1_HUMAN			6	990	+			311			CUB.		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	ENST00000407188.1	37	c.937G>A	CCDS43000.2	.	.	.	.	.	.	.	.	.	.	G	31	5.079085	0.94050	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	4.99	4.99	0.66335	CUB (5);	0.000000	0.64402	D	0.000009	T	0.45617	0.1351	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.87578	0.997;0.998;0.993	T	0.38950	-0.9637	10	0.59425	D	0.04	.	16.1477	0.81583	0.0:0.0:1.0:0.0	.	311;313;313	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	T	313;313;313;311	ENSP00000383189:A313T;ENSP00000383192:A313T;ENSP00000331242:A313T;ENSP00000385431:A311T	ENSP00000331242:A313T	A	+	1	0	KREMEN1	27863635	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.417000	0.97391	2.507000	0.84556	0.467000	0.42956	GCC		0.532	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320947.1			36	170	0	0	0	1	0	36	170					A	29533635	G	A	29533635	3	1	79	1	0	0	0	0	1	0	0	0	8472	1203	42	2	959	2	KREMEN1	22	29533635	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16278	29533635	21770931	20887	31204											
EWSR1	2130	broad.mit.edu	37	chr22	29674083	29674083	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	caggggtatggcactggtgcTtatgataccaccactgctac	11	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29674083T>G	ENST00000397938.2	+	5	610	c.291T>G	c.(289-291)gcT>gcG	p.A97A	EWSR1_ENST00000332050.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000333395.6_Silent_p.A97A	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	97	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				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						GCACTGGTGCTTATGATACCA	0.552			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(289-291)gcT>gcG		EWS RNA-binding protein 1							46	45	45					22																	29674083		2203	4296	6499	SO:0001819	synonymous_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29674083T>G		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.291T>G	22.37:g.29674083T>G						EWSR1_ENST00000332035.6_Silent_p.A97A|EWSR1_ENST00000406548.1_Silent_p.A97A|EWSR1_ENST00000333395.6_Silent_p.A97A|EWSR1_ENST00000414183.2_Silent_p.A103A|EWSR1_ENST00000331029.7_Silent_p.A97A|EWSR1_ENST00000332050.6_Silent_p.A97A	p.A97A	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			5	610	+			97			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	c.291T>G	CCDS13851.1																																																																																				0.552	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		48	174	0	0	0	1	0	48	174					G	29674083	T	G	29674083	2	3	79	1	0	0	0	0	0	0	0	1	5314	1596	56	4		4	EWSR1	22	29674083	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	140448	29674083	21630483	20888	31205											
EWSR1	2130	broad.mit.edu	37	chr22	29678381	29678381	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tattatttctcctcttagacCgcaggatggaaacaagccca	7	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29678381C>T	ENST00000397938.2	+	6	735	c.416C>T	c.(415-417)cCg>cTg	p.P139L	EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L	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	139	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				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						CCTCTTAGACCGCAGGATGGA	0.423			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(415-417)cCg>cTg		EWS RNA-binding protein 1							31	27	28					22																	29678381		2203	4299	6502	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29678381C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.416C>T	22.37:g.29678381C>T	ENSP00000381031:p.Pro139Leu					EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.P139L|EWSR1_ENST00000333395.6_Missense_Mutation_p.P139L|EWSR1_ENST00000414183.2_Missense_Mutation_p.P145L|EWSR1_ENST00000331029.7_Missense_Mutation_p.P139L|EWSR1_ENST00000332050.6_Missense_Mutation_p.P139L	p.P139L	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			6	735	+			139			31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.416C>T	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351763	0.41700	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395	D;D;D;D;D	0.96967	-3.93;-3.46;-3.63;-4.19;-3.65	5.05	5.05	0.67936	.	0.225469	0.29253	U	0.012683	D	0.96676	0.8915	L	0.31065	0.9	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.83275	0.913;0.996;0.913;0.96	D	0.97243	0.9892	10	0.52906	T	0.07	.	18.3604	0.90372	0.0:1.0:0.0:0.0	.	139;145;139;139	Q96FE8;Q96MX4;Q01844;Q9BWA2	.;.;EWS_HUMAN;.	L	139;139;146;145;139;140;64;139;145;139	ENSP00000330896:P139L;ENSP00000381031:P139L;ENSP00000385726:P139L;ENSP00000330516:P139L;ENSP00000400142:P145L	ENSP00000330516:P139L	P	+	2	0	EWSR1	28008381	1.000000	0.71417	0.969000	0.41365	0.242000	0.25591	5.583000	0.67484	2.490000	0.84030	0.557000	0.71058	CCG		0.423	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		11	73	0	0	0	1	0	11	73					T	29678381	C	T	29678381	3	4	79	1	0	0	0	0	1	0	0	0	5314	652	23	1	460	1	EWSR1	22	29678381	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4298	29678381	21626185	20889	31206											
GAS2L1	10633	broad.mit.edu	37	chr22	29707995	29707995	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcaggagcagcagctgttcCggcgcctggaagaggagttc	16	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29707995C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000403764.1_Silent_p.S518S|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000471961.1_Silent_p.S518S|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Intron|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407854.1_Silent_p.S518S|GAS2L1_ENST00000407647.2_Silent_p.S518S	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						GCAGCTGTTCCGGCGCCTGGA	0.687																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1552-1554)tcC>tcT		growth arrest-specific 2 like 1							37	48	44					22																	29707995		2041	4200	6241	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707995C>T	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.29707995C>T						GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000407647.2_Silent_p.S518S|GAS2L1_ENST00000403764.1_Silent_p.S518S|GAS2L1_ENST00000407854.1_Silent_p.S518S|GAS2L1_ENST00000360113.2_3'UTR	p.S518S			Q99501	GA2L1_HUMAN			5	2602	+			364					Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	c.1554C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	1.243	-0.620883	0.03636	.	.	ENSG00000185340	ENST00000333679	.	.	.	3.68	-1.41	0.08941	.	0.210963	0.28354	N	0.015652	T	0.33818	0.0876	.	.	.	0.35131	D	0.767955	B;B	0.16396	0.017;0.017	B;B	0.10450	0.005;0.005	T	0.05289	-1.0894	8	0.45353	T	0.12	-1.7584	4.3281	0.11050	0.3098:0.501:0.0:0.1891	.	519;519	A0A5E8;Q99501	.;GA2L1_HUMAN	W	518	.	ENSP00000332834:R518W	R	+	1	2	GAS2L1	28037995	0.094000	0.21725	0.000000	0.03702	0.236000	0.25371	1.479000	0.35453	-0.419000	0.07439	0.491000	0.48974	CGG		0.687	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			146	530	0	0	0	1	0	146	530					T	29707995	C	T	29707995	1	4	79	0	1	0	0	0	0	0	0	0	6274	639	23	1		1	GAS2L1	22	29707995	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29614	29707995	21596571	20890	31207											
GAS2L1	10633	broad.mit.edu	37	chr22	29708458	29708458	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgcactcagtcacccCgagggctgagccagattcct	10	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29708458C>T	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000406549.3_Missense_Mutation_p.P446L|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR	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						TCAGTCACCCCGAGGGCTGAG	0.637																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1336-1338)cCg>cTg		growth arrest-specific 2 like 1							16	19	18					22																	29708458		1987	4160	6147	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708458C>T	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.29708458C>T						GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	p.P446L			Q99501	GA2L1_HUMAN			6	1487	+			673					Q49AU5|Q6PI03	Missense_Mutation	SNP	ENST00000216101.6	37	c.1337C>T	CCDS13854.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.370619	0.42003	.	.	ENSG00000185340	ENST00000333679;ENST00000406549	T	0.57752	0.38	3.32	2.31	0.28768	.	.	.	.	.	T	0.35998	0.0951	.	.	.	0.54753	D	0.999987	B;P;P	0.47253	0.342;0.892;0.892	B;B;B	0.32149	0.05;0.141;0.141	T	0.34527	-0.9825	8	0.87932	D	0	-0.9708	8.5293	0.33324	0.0:0.8849:0.0:0.1151	.	446;673;673	B5MCR7;A0A5E8;Q99501	.;.;GA2L1_HUMAN	L	672;446	ENSP00000383995:P446L	ENSP00000332834:P672L	P	+	2	0	GAS2L1	28038458	0.240000	0.23847	0.044000	0.18714	0.936000	0.57629	4.690000	0.61731	0.986000	0.38683	0.491000	0.48974	CCG		0.637	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			20	125	0	0	0	1	0	20	125					T	29708458	C	T	29708458	1	4	79	0	1	0	0	0	0	0	0	0	6274	644	23	1		1	GAS2L1	22	29708458	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	463	29708458	21596108	20891	31208											
AP1B1	162	broad.mit.edu	37	chr22	29727889	29727889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggacctggaggggggtggCgggggccaggccaaagctgg	23	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29727889C>T	ENST00000405198.1	-	17	2357	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T|AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|AP1B1_ENST00000357586.2_Missense_Mutation_p.A776T|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|SNORD125_ENST00000459538.1_RNA			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	776					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGGGGGTGGCGGGGGCCAGG	0.667																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2326-2328)Gcc>Acc		adaptor-related protein complex 1, beta 1 subunit							31	33	33					22																	29727889		2202	4300	6502	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29727889C>T	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2326G>A	22.37:g.29727889C>T	ENSP00000384194:p.Ala776Thr					AP1B1_ENST00000415447.1_Missense_Mutation_p.A769T|AP1B1_ENST00000356015.2_Missense_Mutation_p.A769T|AP1B1_ENST00000405198.1_Missense_Mutation_p.A776T|AP1B1_ENST00000402502.1_Missense_Mutation_p.A769T|AP1B1_ENST00000432560.2_Missense_Mutation_p.A769T|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Missense_Mutation_p.A749T	p.A776T	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			18	2512	-			776					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2326G>A	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	c	12.12	1.842665	0.32606	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.58	3.57	0.40892	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.098822	0.64402	N	0.000001	T	0.48132	0.1483	M	0.76002	2.32	0.80722	D	1	B;B;B;B;B	0.19073	0.028;0.005;0.005;0.033;0.012	B;B;B;B;B	0.19946	0.027;0.013;0.013;0.021;0.013	T	0.49570	-0.8926	10	0.44086	T	0.13	-20.8288	12.3414	0.55095	0.0:0.917:0.0:0.083	.	329;749;769;776;769	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	T	776;769;769;776;749;769;769	ENSP00000350199:A776T;ENSP00000348297:A769T;ENSP00000400065:A769T;ENSP00000384194:A776T;ENSP00000319361:A749T;ENSP00000386071:A769T;ENSP00000387612:A769T	ENSP00000319361:A749T	A	-	1	0	AP1B1	28057889	0.986000	0.35501	1.000000	0.80357	0.013000	0.08279	2.087000	0.41653	1.167000	0.42706	-0.258000	0.10820	GCC		0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		61	248	0	0	0	1	0	61	248					T	29727889	C	T	29727889	3	4	79	1	0	0	0	0	1	0	0	0	731	768	27	1	547	1	AP1B1	22	29727889	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19431	29727889	21576677	20892	31209											
RFPL1	5988	broad.mit.edu	37	chr22	29835141	29835141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagatgaacccaaggatgCggaagttccaaggtgaggga	15	7	0	3	rs142648482	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29835141C>T	ENST00000354373.2	+	1	570	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	121	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CCCAAGGATGCGGAAGTTCCA	0.517													-|||	3	0.000599042	0.0015	0.0	5008	,	,		19438	0.001		0.0	False		,,,				2504	0.0					ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(361-363)Cgg>Tgg		ret finger protein-like 1		C	TRP/ARG	16,4390		0,16,2187	122	116	118		361	-2	0	22	dbSNP_134	118	0,8600		0,0,4300	yes	missense	RFPL1	NM_021026.2	101	0,16,6487	TT,TC,CC		0.0,0.3631,0.123	probably-damaging	121/318	29835141	16,12990	2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835141C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.361C>T	22.37:g.29835141C>T	ENSP00000346342:p.Arg121Trp					RFPL1S_ENST00000461286.2_RNA	p.R121W	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	570	+			121			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.361C>T	CCDS13857.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	12.19	1.864452	0.32977	0.003631	0.0	ENSG00000128250	ENST00000354373	T	0.29397	1.57	1.66	-1.98	0.07480	Concanavalin A-like lectin/glucanase (1);RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.21881	0.0527	L	0.41824	1.3	0.09310	N	1	P	0.38863	0.65	B	0.40565	0.333	T	0.17471	-1.0368	9	0.66056	D	0.02	.	2.496	0.04621	0.2789:0.5142:0.0:0.2068	.	121	O75677	RFPL1_HUMAN	W	121	ENSP00000346342:R121W	ENSP00000346342:R121W	R	+	1	2	RFPL1	28165141	0.000000	0.05858	0.001000	0.08648	0.503000	0.33858	-1.324000	0.02690	-0.584000	0.05913	0.418000	0.28097	CGG		0.517	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		13	640	0	0	0	1	0	13	640					T	29835141	C	T	29835141	3	4	79	1	0	0	0	0	1	0	0	0	13303	759	27	1	363	1	RFPL1	22	29835141	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107252	29835141	21469425	20893	31210											
NEFH	4744	broad.mit.edu	37	chr22	29881809	29881809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcaatgtcaagatggCtctggatatagagatagccg	11	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29881809C>T	ENST00000310624.6	+	3	1214	c.1181C>T	c.(1180-1182)gCt>gTt	p.A394V		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	394	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						GTCAAGATGGCTCTGGATATA	0.547																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(1180-1182)gCt>gTt		neurofilament, heavy polypeptide							89	78	82					22																	29881809		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29881809C>T		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.1181C>T	22.37:g.29881809C>T	ENSP00000311997:p.Ala394Val						p.A394V	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			3	1214	+			394			Coil 2B.|Rod.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.1181C>T	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793327	0.90453	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.90900	-2.75	5.67	5.67	0.87782	Filament (1);	0.278833	0.25720	N	0.028746	D	0.96728	0.8932	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97172	0.9845	10	0.87932	D	0	.	19.8245	0.96612	0.0:1.0:0.0:0.0	.	394	P12036	NFH_HUMAN	V	394	ENSP00000311997:A394V	ENSP00000311997:A394V	A	+	2	0	NEFH	28211809	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.814000	0.86154	2.692000	0.91855	0.650000	0.86243	GCT		0.547	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		53	253	0	0	0	1	0	53	253					T	29881809	C	T	29881809	3	4	79	1	0	0	0	0	1	0	0	0	10356	797	28	2	1191	2	NEFH	22	29881809	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46668	29881809	21422757	20894	31211											
NEFH	4744	broad.mit.edu	37	chr22	29886650	29886650	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaaaagacagcaagccTccagagaaggccacagaaga	10	11	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29886650T>A	ENST00000310624.6	+	4	3054	c.3021T>A	c.(3019-3021)ccT>ccA	p.P1007P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	1013	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						ACAGCAAGCCTCCAGAGAAGG	0.517																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(3019-3021)ccT>ccA		neurofilament, heavy polypeptide							32	34	33					22																	29886650		2202	4300	6502	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29886650T>A		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.3021T>A	22.37:g.29886650T>A							p.P1007P	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	3054	+			1013			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.3021T>A	CCDS13858.1																																																																																				0.517	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		51	175	0	0	0	1	0	51	175					A	29886650	T	A	29886650	2	1	79	1	0	0	0	0	0	0	0	1	10356	1538	54	5		5	NEFH	22	29886650	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4841	29886650	21417916	20895	31212											
THOC5	8563	broad.mit.edu	37	chr22	29913321	29913321	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttggcagggaagaggtaCtggcaatcactggtaactgg	14	8	1	1	rs367583357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29913321C>A	ENST00000490103.1	-	16	1646	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	508					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						GGAAGAGGTACTGGCAATCAC	0.478																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1522-1524)caG>caT		THO complex 5							128	102	111					22																	29913321		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29913321C>A	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.1524G>T	22.37:g.29913321C>A	ENSP00000420306:p.Gln508His					THOC5_ENST00000397873.2_Missense_Mutation_p.Q508H|THOC5_ENST00000397871.1_Missense_Mutation_p.Q508H|THOC5_ENST00000397872.1_Missense_Mutation_p.Q508H|CTA-256D12.11_ENST00000411969.1_RNA	p.Q508H	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			16	1646	-			508					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1524G>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957691	0.73902	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.81	3.67	0.42095	.	0.152728	0.64402	N	0.000015	T	0.32971	0.0847	M	0.62723	1.935	0.51482	D	0.999928	D	0.56521	0.976	P	0.49999	0.628	T	0.04229	-1.0967	10	0.44086	T	0.13	-26.8255	9.7427	0.40429	0.0:0.661:0.269:0.07	.	508	Q13769	THOC5_HUMAN	H	508	ENSP00000420306:Q508H;ENSP00000380970:Q508H;ENSP00000380969:Q508H;ENSP00000380971:Q508H	ENSP00000380969:Q508H	Q	-	3	2	THOC5	28243321	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.071000	0.41500	0.752000	0.32923	0.655000	0.94253	CAG		0.478	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		28	104	1	0	1.06801e-11	1	1.14091e-11	28	104					A	29913321	C	A	29913321	3	1	79	1	0	0	0	0	1	0	0	0	15920	564	20	3	547	3	THOC5	22	29913321	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	26671	29913321	21391245	20896	31213											
NF2	4771	broad.mit.edu	37	chr22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-													ccagtgttcacaagcggggaTttttggcccaagaggaattg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000347330.5_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	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)		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						CAAGCGGGGATTTTTGGCCCA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(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						c.(484-486)ttfs		neurofibromin 2 (merlin)							143	145	144					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	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.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		9	1034						9	1034	---	---	---	---	-	30050682	T	-	30050682	7	5	79	1	0	1	0	1	0	0	0	0	10399	1493	52	0	502	0	NF2	22	30050682	Frame_Shift_Del	DEL	T	TCGA-IB-7651-01A-11D-2154-08	137361	30050682	21253884	20897	31214											
ZMAT5	55954	broad.mit.edu	37	chr22	30144499	30144499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaggttgtcctggaaggagCggtcgcagtagtcacagaag	17	7	1	1	rs540359346		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30144499C>T	ENST00000344318.3	-	2	151	c.35G>A	c.(34-36)cGc>cAc	p.R12H	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R12H	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	12					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CTGGAAGGAGCGGTCGCAGTA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18808	0.001		0.0	False		,,,				2504	0.0					ENST00000397781.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(34-36)cGc>cAc		zinc finger, matrin-type 5							154	124	134					22																	30144499		2203	4300	6503	SO:0001583	missense	55954				mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	g.chr22:30144499C>T		CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"Zinc fingers, matrin-type"	28046	protein-coding gene	gene with protein product	"U11/U12 snRNP 20K"					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.35G>A	22.37:g.30144499C>T	ENSP00000344241:p.Arg12His					ZMAT5_ENST00000344318.3_Missense_Mutation_p.R12H	p.R12H	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		3	285	-			12					A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	c.35G>A	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320312	0.95682	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.36	5.36	0.76844	Zinc finger, U1-C type (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81127	-0.1074	9	0.72032	D	0.01	-32.7094	16.2369	0.82380	0.0:1.0:0.0:0.0	.	12	Q9UDW3	ZMAT5_HUMAN	H	12	.	ENSP00000344241:R12H	R	-	2	0	ZMAT5	28474499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.664000	0.68045	2.518000	0.84900	0.511000	0.50034	CGC		0.567	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		27	283	0	0	0	1	0	27	283					T	30144499	C	T	30144499	3	4	79	1	0	0	0	0	1	0	0	0	17748	768	27	1	497	1	ZMAT5	22	30144499	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93817	30144499	21160067	20898	31215											
ASCC2	84164	broad.mit.edu	37	chr22	30186501	30186501	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgcctggcttctgccttctCtctcagcactgcagggtcct	10	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30186501C>A	ENST00000397771.2	-	20	2236	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	687					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)			TCTGCCTTCTCTCTCAGCACT	0.587																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(2059-2061)Gag>Tag		activating signal cointegrator 1 complex subunit 2							57	51	53					22																	30186501		2203	4300	6503	SO:0001587	stop_gained	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30186501C>A	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.2059G>T	22.37:g.30186501C>A	ENSP00000380877:p.Glu687*					ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E611*|ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E687*	p.E687*			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		20	2236	-			687					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	ENST00000397771.2	37	c.2059G>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	39	7.817971	0.98507	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-30.8065	18.5398	0.91023	0.0:1.0:0.0:0.0	.	.	.	.	X	687;687;611	.	ENSP00000305502:E687X	E	-	1	0	ASCC2	28516501	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.714000	0.74692	2.713000	0.92767	0.655000	0.94253	GAG		0.587	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		41	210	1	0	4.01765e-15	1	4.38033e-15	41	210					A	30186501	C	A	30186501	4	1	79	1	0	0	0	0	0	1	0	0	1033	922	32	3	222	3	ASCC2	22	30186501	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	42002	30186501	21118065	20899	31216											
ASCC2	84164	broad.mit.edu	37	chr22	30212055	30212055	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	taacttggctgctgtgtaaaGatgtttcctaaaaagagaag	10	5	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30212055G>T	ENST00000397771.2	-	7	726	c.549C>A	c.(547-549)atC>atA	p.I183I	ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000542393.1_Silent_p.I107I|ASCC2_ENST00000307790.3_Silent_p.I183I			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	183					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)			GCTGTGTAAAGATGTTTCCTA	0.512																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(547-549)atC>atA		activating signal cointegrator 1 complex subunit 2							112	98	103					22																	30212055		2203	4299	6502	SO:0001819	synonymous_variant	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30212055G>T	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.549C>A	22.37:g.30212055G>T						ASCC2_ENST00000542393.1_Silent_p.I107I|ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000307790.3_Silent_p.I183I	p.I183I			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		7	726	-			183					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	37	c.549C>A	CCDS13869.1																																																																																				0.512	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		9	43	1	0	1.12685e-05	1	1.15515e-05	9	43					T	30212055	G	T	30212055	2	4	79	1	0	0	0	0	0	0	0	1	1033	932	33	3		3	ASCC2	22	30212055	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25554	30212055	21092511	20900	31217											
LIF	3976	broad.mit.edu	37	chr22	30640766	30640766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagaataaagagggcattgGcactgccattgagctgtgcc	13	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30640766G>A	ENST00000249075.3	-	2	331	c.176C>T	c.(175-177)gCc>gTc	p.A59V	RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	59					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GAGGGCATTGGCACTGCCATT	0.532																																						ENST00000249075.3																			0				breast(1)|lung(3)|skin(3)	7						c.(175-177)gCc>gTc		leukemia inhibitory factor							167	144	152					22																	30640766		2203	4300	6503	SO:0001583	missense	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30640766G>A		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"differentiation inhibitory activity", "differentiation-inducing factor", "hepatocyte-stimulating factor III", "cholinergic differentiation factor", "human interleukin in DA cells"	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.176C>T	22.37:g.30640766G>A	ENSP00000249075:p.Ala59Val					LIF_ENST00000403987.3_Intron	p.A59V	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	Epithelial(10;0.171)		2	331	-			59					B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	c.176C>T	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735491	0.89482	.	.	ENSG00000128342	ENST00000249075	T	0.80393	-1.37	4.56	4.56	0.56223	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.56097	D	0.000031	D	0.88760	0.6524	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90180	0.4242	10	0.87932	D	0	-38.7843	14.432	0.67257	0.0:0.0:1.0:0.0	.	59	P15018	LIF_HUMAN	V	59	ENSP00000249075:A59V	ENSP00000249075:A59V	A	-	2	0	LIF	28970766	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.574000	0.53863	2.226000	0.72624	0.563000	0.77884	GCC		0.532	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		57	224	0	0	0	1	0	57	224					A	30640766	G	A	30640766	3	1	79	1	0	0	0	0	1	0	0	0	8811	1203	42	2	440	2	LIF	22	30640766	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	428711	30640766	20663800	20901	31218											
TBC1D10A	83874	broad.mit.edu	37	chr22	30689795	30689795	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggaagatgatcttgacccCtgcatgggggatgggcagta	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	ENST00000215790.7	-	8	1060		c.e8-1		RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403477.3_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A						activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATCTTGACCCCTGCATGGGGG	0.612																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.e8-1		TBC1 domain family, member 10A							45	48	47					22																	30689795		2203	4300	6503	SO:0001630	splice_region_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30689795C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"EBP50-PDZ interactor of 64 kD"	610020	"TBC1 domain family, member 10"	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.896-1G>A	22.37:g.30689795C>T						TBC1D10A_ENST00000403477.3_Splice_Site|RP1-130H16.18_ENST00000447976.1_Splice_Site|TBC1D10A_ENST00000403362.1_Splice_Site		NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			8	1060	-								B3KXT8|O76053|Q20WK7|Q543A2	Splice_Site	SNP	ENST00000215790.7	37		CCDS13874.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279871	0.80692	.	.	ENSG00000248751;ENSG00000099992;ENSG00000099992;ENSG00000099992	ENST00000434291;ENST00000215790;ENST00000403477;ENST00000403362	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2857	0.90113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBC1D10A;RP1-130H16.18	29019795	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.037000	0.70956	2.746000	0.94184	0.561000	0.74099	.		0.612	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937	Intron	71	332	0	0	0	1	0	71	332					T	30689795	C	T	30689795	5	4	79	1	0	0	0	0	0	0	1	0	15650	695	24	2	639	2	TBC1D10A	22	30689795	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49029	30689795	20614771	20902	31219											
SF3A1	10291	broad.mit.edu	37	chr22	30735152	30735152	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctggatctcctcctcaccGatcttcttaccaatggctgt	6	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	ENST00000215793.8	-	10	1618	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SF3A1_ENST00000439242.1_Silent_p.I423I	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	488					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						CCTCCTCACCGATCTTCTTAC	0.517																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1267-1269)atC>atT		splicing factor 3a, subunit 1, 120kDa							260	204	223					22																	30735152		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30735152G>A	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.1464C>T	22.37:g.30735152G>A						SF3A1_ENST00000215793.7_Silent_p.I488I	p.I423I	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			10	1400	-			488					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.1269C>T	CCDS13875.1																																																																																				0.517	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		140	691	0	0	0	1	0	140	691					A	30735152	G	A	30735152	2	1	79	1	0	0	0	0	0	0	0	1	14196	1048	37	1		1	SF3A1	22	30735152	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45357	30735152	20569414	20903	31220											
SF3A1	10291	broad.mit.edu	37	chr22	30737858	30737858	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagctcctctggcgtggtGgggggagggaagttccctag	17	11	1	0	rs36085017	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30737858G>T	ENST00000215793.8	-	7	1048	c.894C>A	c.(892-894)ccC>ccA	p.P298P	SF3A1_ENST00000439242.1_Silent_p.P233P	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	298					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						CTGGCGTGGTGGGGGGAGGGA	0.572																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(697-699)ccC>ccA		splicing factor 3a, subunit 1, 120kDa							53	50	51					22																	30737858		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30737858G>T	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.894C>A	22.37:g.30737858G>T						SF3A1_ENST00000215793.7_Silent_p.P298P	p.P233P	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			7	830	-			298					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.699C>A	CCDS13875.1																																																																																				0.572	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		10	288	1	0	2.17888e-05	1	2.22852e-05	10	288					T	30737858	G	T	30737858	2	4	79	1	0	0	0	0	0	0	0	1	14196	1335	47	3		3	SF3A1	22	30737858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2706	30737858	20566708	20904	31221											
RNF215	200312	broad.mit.edu	37	chr22	30782666	30782666	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttattctcctggtggaacTgggccgcctgctccttgccc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30782666T>C	ENST00000382363.3	-	2	442	c.368A>G	c.(367-369)cAg>cGg	p.Q123R		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	123						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CTGGTGGAACTGGGCCGCCTG	0.637																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(367-369)cAg>cGg		ring finger protein 215							63	63	63					22																	30782666		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30782666T>C		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.368A>G	22.37:g.30782666T>C	ENSP00000371800:p.Gln123Arg						p.Q123R	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			2	442	-			123					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.368A>G	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951642	0.53186	.	.	ENSG00000099999	ENST00000382363;ENST00000431544	T	0.18338	2.22	4.14	1.8	0.24995	.	0.000000	0.31821	N	0.007003	T	0.09024	0.0223	N	0.14661	0.345	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.20438	-1.0275	10	0.37606	T	0.19	-0.0969	8.0584	0.30619	0.0:0.0:0.4105:0.5895	.	123	Q9Y6U7	RN215_HUMAN	R	123;28	ENSP00000371800:Q123R	ENSP00000371800:Q123R	Q	-	2	0	RNF215	29112666	0.998000	0.40836	0.998000	0.56505	0.978000	0.69477	0.145000	0.16157	0.199000	0.20427	0.529000	0.55759	CAG		0.637	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		73	311	0	0	0	1	0	73	311					C	30782666	T	C	30782666	3	2	79	1	0	0	0	0	1	0	0	0	13529	1580	55	4	797	4	RNF215	22	30782666	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	44808	30782666	20521900	20905	31222											
SEC14L2	23541	broad.mit.edu	37	chr22	30805262	30805262	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcctgctgtggaggcCtatggagaggtgaggggcag	20	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30805262C>T	ENST00000312932.9	+	6	770	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SEC14L2_ENST00000402592.3_Silent_p.A87A|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.A170A|RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000403484.1_Silent_p.A96A	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	170	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)	CTGTGGAGGCCTATggagagg	0.602																																						ENST00000312932.9																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10						c.(508-510)gcC>gcT		SEC14-like 2 (S. cerevisiae)	Vitamin E(DB00163)						49	54	52					22																	30805262		2203	4300	6503	SO:0001819	synonymous_variant	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30805262C>T	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.510C>T	22.37:g.30805262C>T						RP4-539M6.19_ENST00000439838.1_Silent_p.A4A|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000405717.3_Silent_p.A170A|SEC14L2_ENST00000402592.3_Silent_p.A87A|SEC14L2_ENST00000403484.1_Silent_p.A96A	p.A170A	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN			6	770	+			170			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	ENST00000312932.9	37	c.510C>T	CCDS13876.1																																																																																				0.602	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4	NM_012429		59	197	0	0	0	1	0	59	197					T	30805262	C	T	30805262	2	4	79	1	0	0	0	0	0	0	0	1	14032	668	24	2		2	SEC14L2	22	30805262	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22596	30805262	20499304	20906	31223											
MTP18	51537	broad.mit.edu	37	chr22	30823180	30823180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccagccctgaagcaggccGcagcgccagggtgactgtgg	16	14	0	2	rs144789689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30823180G>A	ENST00000266263.5	+	3	568	c.218G>A	c.(217-219)cGc>cAc	p.R73H	MTFP1_ENST00000355143.4_Intron|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.R245H|MTFP1_ENST00000407550.3_Intron	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	73					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(1)|lung(2)	4						GAAGCAGGCCGCAGCGCCAGG	0.632																																						ENST00000439838.1																			0											c.(733-735)cGc>cAc									100	97	98					22																	30823180		2203	4300	6503	SO:0001583	missense	0							g.chr22:30823180G>A	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.218G>A	22.37:g.30823180G>A	ENSP00000266263:p.Arg73His					MTFP1_ENST00000407550.3_Intron|MTFP1_ENST00000355143.4_Intron|MTFP1_ENST00000266263.5_Missense_Mutation_p.R73H	p.R245H							8	734	+								A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	c.734G>A	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036618	0.35893	.	.	ENSG00000249590;ENSG00000242114	ENST00000439838;ENST00000266263	T	0.69685	-0.42	4.87	4.87	0.63330	.	0.104089	0.64402	D	0.000008	T	0.57257	0.2041	L	0.38531	1.155	0.80722	D	1	B	0.32693	0.38	B	0.31547	0.132	T	0.57636	-0.7777	10	0.36615	T	0.2	-5.8358	15.9659	0.79970	0.0:0.0:1.0:0.0	.	73	Q9UDX5	MTFP1_HUMAN	H	245;73	ENSP00000415178:R245H	ENSP00000266263:R73H	R	+	2	0	MTFP1;RP4-539M6.19	29153180	0.068000	0.21057	1.000000	0.80357	0.257000	0.26127	0.969000	0.29370	2.528000	0.85240	0.655000	0.94253	CGC		0.632	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3	NM_016498		76	715	0	0	0	1	0	76	715					A	30823180	G	A	30823180	3	1	79	1	0	0	0	0	1	0	0	0	9996	1087	38	1	228	1	MTP18	22	30823180	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	17918	30823180	20481386	20907	31224											
SEC14L3	266629	broad.mit.edu	37	chr22	30856091	30856091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagctgaccttcttggCgtggacaaagctataggtgt	13	7	1	2	rs142573310	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30856091C>T	ENST00000215812.4	-	12	1210	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	374	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000215812.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(1120-1122)Gcc>Acc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)	C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	130	108	115		1120	-0.9	0.7	22	dbSNP_134	115	8,8592	6.4+/-24.3	0,8,4292	yes	missense	SEC14L3	NM_174975.4	58	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	374/401	30856091	9,12997	2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30856091C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1120G>A	22.37:g.30856091C>T	ENSP00000215812:p.Ala374Thr					SEC14L3_ENST00000540910.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000401751.1_Missense_Mutation_p.A315T|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000402286.1_Missense_Mutation_p.A297T|SEC14L3_ENST00000539629.1_Missense_Mutation_p.A315T	p.A374T	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN			12	1210	-			374			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.1120G>A	CCDS13877.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.88	2.070140	0.36566	2.27E-4	9.3E-4	ENSG00000100012	ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.95	-0.882	0.10604	GOLD (2);	0.273852	0.41396	N	0.000882	T	0.26810	0.0656	N	0.25286	0.73	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08889	-1.0700	10	0.36615	T	0.2	-7.9929	13.8199	0.63313	0.0:0.901:0.0:0.099	.	297;374	E9PE57;Q9UDX4	.;S14L3_HUMAN	T	374;297;315;315;297	ENSP00000215812:A374T;ENSP00000385004:A297T;ENSP00000383896:A315T;ENSP00000444691:A315T;ENSP00000439752:A297T	ENSP00000215812:A374T	A	-	1	0	SEC14L3	29186091	0.001000	0.12720	0.684000	0.30055	0.984000	0.73092	-0.083000	0.11286	0.037000	0.15575	0.655000	0.94253	GCC		0.527	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		67	324	0	0	0	1	0	67	324					T	30856091	C	T	30856091	3	4	79	1	0	0	0	0	1	0	0	0	14033	768	27	1	86	1	SEC14L3	22	30856091	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	32911	30856091	20448475	20908	31225											
SEC14L3	266629	broad.mit.edu	37	chr22	30857366	30857366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttatagcgctggctggGtagaacatctgtcatctccc	12	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30857366G>A	ENST00000215812.4	-	11	1102	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000403066.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	338	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGCTGGCTGGGTAGAACATCT	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(835-837)Ccc>Tcc		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						81	76	78					22																	30857366		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857366G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1012C>T	22.37:g.30857366G>A	ENSP00000215812:p.Pro338Ser					SEC14L3_ENST00000540910.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000415957.2_Missense_Mutation_p.P279S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P261S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P279S|SEC14L3_ENST00000215812.4_Missense_Mutation_p.P338S	p.P279S			Q9UDX4	S14L3_HUMAN			12	1118	-			338			GOLD.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.835C>T	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709032	0.30322	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	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	-11.3	0.00108	GOLD (2);	0.636283	0.17380	N	0.176340	T	0.32285	0.0824	M	0.64170	1.965	0.38285	D	0.94253	B;B	0.21147	0.052;0.026	B;B	0.19148	0.024;0.024	T	0.14282	-1.0478	10	0.52906	T	0.07	-0.6816	7.647	0.28325	0.0575:0.4521:0.1795:0.311	.	261;338	E9PE57;Q9UDX4	.;S14L3_HUMAN	S	279;279;338;261;279;279;261	ENSP00000385941:P279S;ENSP00000401864:P279S;ENSP00000215812:P338S;ENSP00000385004:P261S;ENSP00000383896:P279S;ENSP00000444691:P279S;ENSP00000439752:P261S	ENSP00000215812:P338S	P	-	1	0	SEC14L3	29187366	0.000000	0.05858	0.018000	0.16275	0.652000	0.38707	-0.852000	0.04308	-1.970000	0.01003	0.655000	0.94253	CCC		0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		77	358	0	0	0	1	0	77	358					A	30857366	G	A	30857366	3	1	79	1	0	0	0	0	1	0	0	0	14033	1261	44	2	198	2	SEC14L3	22	30857366	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1275	30857366	20447200	20909	31226											
SEC14L4	284904	broad.mit.edu	37	chr22	30890926	30890926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtcaaacaccatcagcGccatctcgatcttcctgccc	5	18	4	0	rs142766376	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30890926G>A	ENST00000255858.7	-	6	529	c.446C>T	c.(445-447)gCg>gTg	p.A149V	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V|SEC14L4_ENST00000392772.2_Missense_Mutation_p.A95V|RP4-539M6.14_ENST00000442126.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	149	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACCATCAGCGCCATCTCGAT	0.592																																						ENST00000392772.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(283-285)gCg>gTg		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)	G	VAL/ALA,VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	140	111	121		446,446	2.8	0	22	dbSNP_134	121	0,8600		0,0,4300	yes	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	64,64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign	149/361,149/407	30890926	5,13001	2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890926G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.446C>T	22.37:g.30890926G>A	ENSP00000255858:p.Ala149Val					SEC14L4_ENST00000255858.7_Missense_Mutation_p.A149V|SEC14L4_ENST00000381982.3_Missense_Mutation_p.A149V|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A134V	p.A95V			Q9UDX3	S14L4_HUMAN			6	561	-			149			CRAL-TRIO.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.284C>T	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	7.980	0.751077	0.15778	0.001135	0.0	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	4.95	2.8	0.32819	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.516723	0.20813	N	0.085214	T	0.44664	0.1304	N	0.03000	-0.44	0.24522	N	0.994152	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.27400	-1.0075	10	0.13853	T	0.58	-14.846	7.4929	0.27473	0.8194:0.0:0.1806:0.0	.	95;134;149	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	V	149;134;95;149	ENSP00000255858:A149V;ENSP00000440848:A134V;ENSP00000376525:A95V;ENSP00000371412:A149V	ENSP00000255858:A149V	A	-	2	0	SEC14L4	29220926	0.305000	0.24481	0.000000	0.03702	0.048000	0.14542	3.833000	0.55790	0.326000	0.23384	-0.373000	0.07131	GCG		0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		82	329	0	0	0	1	0	82	329					A	30890926	G	A	30890926	3	1	79	1	0	0	0	0	1	0	0	0	14034	1087	38	1	808	1	SEC14L4	22	30890926	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	33560	30890926	20413640	20910	31227											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951198	30951198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatggtccgcatgcgctcGttggcatggcgcagggcggc	17	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951198G>A	ENST00000402321.1	-	3	1331	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	GAL3ST1_ENST00000402369.1_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000401975.1_Silent_p.N338N|GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	338					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						GCATGCGCTCGTTGGCATGGC	0.716																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1012-1014)aaC>aaT		galactose-3-O-sulfotransferase 1							21	22	22					22																	30951198		2200	4288	6488	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951198G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1014C>T	22.37:g.30951198G>A						GAL3ST1_ENST00000401975.1_Silent_p.N338N|GAL3ST1_ENST00000338911.5_Silent_p.N338N|GAL3ST1_ENST00000443111.2_Silent_p.N338N|GAL3ST1_ENST00000406955.1_Silent_p.N338N|GAL3ST1_ENST00000406361.1_Silent_p.N338N|GAL3ST1_ENST00000402369.1_Silent_p.N338N	p.N338N			Q99999	G3ST1_HUMAN			3	1331	-			338					Q96C63	Silent	SNP	ENST00000402321.1	37	c.1014C>T	CCDS13879.1																																																																																				0.716	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		48	171	0	0	0	1	0	48	171					A	30951198	G	A	30951198	2	1	79	1	0	0	0	0	0	0	0	1	6225	1136	40	1		1	GAL3ST1	22	30951198	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60272	30951198	20353368	20911	31228											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951676	30951676	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtgaggggcaccaccGgcccgaagtagtggaaggag	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951676G>A	ENST00000402321.1	-	3	853	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	179					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						GGGCACCACCGGCCCGAAGTA	0.652																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(535-537)cCg>cTg		galactose-3-O-sulfotransferase 1							53	55	54					22																	30951676		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951676G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.536C>T	22.37:g.30951676G>A	ENSP00000385735:p.Pro179Leu					GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P179L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P179L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P179L	p.P179L			Q99999	G3ST1_HUMAN			3	853	-			179					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.536C>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304641	0.23736	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282	T;T;T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.25	4.02	0.46733	.	0.516617	0.20886	N	0.083911	T	0.04770	0.0129	N	0.02751	-0.505	0.21579	N	0.999634	B	0.06786	0.001	B	0.04013	0.001	T	0.41142	-0.9525	10	0.10636	T	0.68	-13.4125	8.4766	0.33016	0.0979:0.2798:0.6223:0.0	.	179	Q99999	G3ST1_HUMAN	L	179;179;179;179;179;179;179;179;180;179;179	ENSP00000385825:P179L;ENSP00000385735:P179L;ENSP00000384122:P179L;ENSP00000384388:P179L;ENSP00000343234:P179L;ENSP00000385207:P179L;ENSP00000402587:P179L;ENSP00000390545:P179L;ENSP00000395080:P180L;ENSP00000405017:P179L;ENSP00000401426:P179L	ENSP00000343234:P179L	P	-	2	0	GAL3ST1	29281676	0.006000	0.16342	0.044000	0.18714	0.959000	0.62525	1.643000	0.37217	2.462000	0.83206	0.491000	0.48974	CCG		0.652	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		99	418	0	0	0	1	0	99	418					A	30951676	G	A	30951676	3	1	79	1	0	0	0	0	1	0	0	0	6225	1116	39	1	739	1	GAL3ST1	22	30951676	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	30951676	20352890	20912	31229											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951867	30951867	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgaagaaggtcgggtagtcGaagtcattgcggccgttagg	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951867G>A	ENST00000402321.1	-	3	662	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST1_ENST00000402369.1_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000401975.1_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	115					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						TCGGGTAGTCGAAGTCATTGC	0.612																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(343-345)ttC>ttT		galactose-3-O-sulfotransferase 1							95	81	85					22																	30951867		2203	4300	6503	SO:0001819	synonymous_variant	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951867G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.345C>T	22.37:g.30951867G>A						GAL3ST1_ENST00000401975.1_Silent_p.F115F|GAL3ST1_ENST00000338911.5_Silent_p.F115F|GAL3ST1_ENST00000443111.2_Silent_p.F115F|GAL3ST1_ENST00000406955.1_Silent_p.F115F|GAL3ST1_ENST00000406361.1_Silent_p.F115F|GAL3ST1_ENST00000402369.1_Silent_p.F115F	p.F115F			Q99999	G3ST1_HUMAN			3	662	-			115					Q96C63	Silent	SNP	ENST00000402321.1	37	c.345C>T	CCDS13879.1																																																																																				0.612	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		53	598	0	0	0	1	0	53	598					A	30951867	G	A	30951867	2	1	79	1	0	0	0	0	0	0	0	1	6225	1049	37	1		1	GAL3ST1	22	30951867	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191	30951867	20352699	20913	31230											
PES1	23481	broad.mit.edu	37	chr22	30980611	30980611	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagctgaatggtctgcacGtggcacttgccagtccgcgg	13	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30980611G>A	ENST00000405677.1	-	7	988	c.45C>T	c.(43-45)caC>caT	p.H15H	PES1_ENST00000402281.1_Silent_p.H15H|PES1_ENST00000402284.3_Silent_p.H154H|PES1_ENST00000354694.7_Silent_p.H154H|PES1_ENST00000335214.6_Silent_p.H154H	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGTCTGCACGTGGCACTTGC	0.617																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(43-45)caC>caT		pescadillo ribosomal biogenesis factor 1							79	54	62					22																	30980611		2203	4300	6503	SO:0001819	synonymous_variant	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30980611G>A	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.45C>T	22.37:g.30980611G>A						PES1_ENST00000354694.6_Silent_p.H154H|PES1_ENST00000335214.6_Silent_p.H154H|PES1_ENST00000405677.1_Silent_p.H15H|PES1_ENST00000402284.3_Silent_p.H154H	p.H15H			O00541	PESC_HUMAN			7	1036	-			154			Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization.			Silent	SNP	ENST00000405677.1	37	c.45C>T																																																																																					0.617	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		31	142	0	0	0	1	0	31	142					A	30980611	G	A	30980611	2	1	79	1	0	0	0	0	0	0	0	1	11775	1136	40	1		1	PES1	22	30980611	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28744	30980611	20323955	20914	31231											
TCN2	6948	broad.mit.edu	37	chr22	31008947	31008947	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgctctcagagccaaCtgtgagtttgtcaggggcca	12	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31008947C>A	ENST00000215838.3	+	3	839	c.345C>A	c.(343-345)aaC>aaA	p.N115K	TCN2_ENST00000405742.3_Missense_Mutation_p.N111K|TCN2_ENST00000407817.3_Splice_Site_p.N115K			P20062	TCO2_HUMAN	transcobalamin II	115					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)	TCAGAGCCAACTGTGAGTTTG	0.597																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(343-345)aaC>aaA		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63	57	59					22																	31008947		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31008947C>A		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.345C>A	22.37:g.31008947C>A	ENSP00000215838:p.Asn115Lys					TCN2_ENST00000407817.3_Splice_Site_p.N115_splice|TCN2_ENST00000405742.3_Missense_Mutation_p.N111K	p.N115K			P20062	TCO2_HUMAN			3	839	+			115					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.345C>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784339	0.49997	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36520	2.62;2.62;1.25	5.41	5.41	0.78517	.	0.252999	0.45867	D	0.000331	T	0.56630	0.1998	M	0.72479	2.2	0.80722	D	1	D;D;D	0.76494	0.99;0.999;0.999	D;D;D	0.70935	0.921;0.971;0.971	T	0.50499	-0.8821	10	0.18276	T	0.48	-35.3893	16.1181	0.81324	0.0:1.0:0.0:0.0	.	115;111;115	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	115;111;115	ENSP00000215838:N115K;ENSP00000385914:N111K;ENSP00000384914:N115K	ENSP00000215838:N115K	N	+	3	2	TCN2	29338947	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	2.753000	0.47524	2.541000	0.85698	0.655000	0.94253	AAC		0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		60	252	1	0	3.89483e-19	1	4.33865e-19	60	252					A	31008947	C	A	31008947	3	1	79	1	0	0	0	0	1	0	0	0	15759	579	20	3	355	3	TCN2	22	31008947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28336	31008947	20295619	20915	31232											
TCN2	6948	broad.mit.edu	37	chr22	31011441	31011441	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccactttgggaatgtctacaGcaccccattggcattacagg	9	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011441G>T	ENST00000215838.3	+	5	1228	c.734G>T	c.(733-735)aGc>aTc	p.S245I	TCN2_ENST00000405742.3_Missense_Mutation_p.S241I|TCN2_ENST00000407817.3_Missense_Mutation_p.S218I			P20062	TCO2_HUMAN	transcobalamin II	245					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)	AATGTCTACAGCACCCCATTG	0.597																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(733-735)aGc>aTc		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						63	56	58					22																	31011441		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011441G>T		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.734G>T	22.37:g.31011441G>T	ENSP00000215838:p.Ser245Ile					TCN2_ENST00000407817.3_Missense_Mutation_p.S218I|TCN2_ENST00000405742.3_Missense_Mutation_p.S241I	p.S245I			P20062	TCO2_HUMAN			5	1228	+			245					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.734G>T	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510442	0.64522	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.49139	0.79;0.79;0.79	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	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	0.999;1.0;1.0	T	0.75505	-0.3294	10	0.87932	D	0	-30.1398	17.0097	0.86403	0.0:0.0:1.0:0.0	.	218;241;245	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	245;241;218	ENSP00000215838:S245I;ENSP00000385914:S241I;ENSP00000384914:S218I	ENSP00000215838:S245I	S	+	2	0	TCN2	29341441	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.643000	0.67895	2.756000	0.94617	0.561000	0.74099	AGC		0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		39	256	1	0	8.69298e-16	1	9.51602e-16	39	256					T	31011441	G	T	31011441	3	4	79	1	0	0	0	0	1	0	0	0	15759	971	34	3	752	3	TCN2	22	31011441	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2494	31011441	20293125	20916	31233											
TCN2	6948	broad.mit.edu	37	chr22	31011607	31011607	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttcctcatgacttcccccaTgcgtggggcagaactgggaa	12	12	1	2	rs113331651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011607T>A	ENST00000215838.3	+	6	1267	c.773T>A	c.(772-774)aTg>aAg	p.M258K	TCN2_ENST00000405742.3_Missense_Mutation_p.M254K|TCN2_ENST00000407817.3_Missense_Mutation_p.M231K			P20062	TCO2_HUMAN	transcobalamin II	258					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)	ACTTCCCCCATGCGTGGGGCA	0.577																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(772-774)aTg>aAg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						64	58	60					22																	31011607		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011607T>A		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.773T>A	22.37:g.31011607T>A	ENSP00000215838:p.Met258Lys					TCN2_ENST00000407817.3_Missense_Mutation_p.M231K|TCN2_ENST00000405742.3_Missense_Mutation_p.M254K	p.M258K			P20062	TCO2_HUMAN			6	1267	+			258					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.773T>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	T	0.195	-1.050182	0.01981	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.32023	1.47;1.47;1.47	5.31	-7.28	0.01456	.	1.154450	0.05920	N	0.633364	T	0.14830	0.0358	L	0.31294	0.92	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.12837	0.008;0.0;0.0	T	0.34775	-0.9815	10	0.06099	T	0.92	0.7059	5.9433	0.19205	0.1018:0.4803:0.1114:0.3065	.	231;254;258	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	K	258;254;231	ENSP00000215838:M258K;ENSP00000385914:M254K;ENSP00000384914:M231K	ENSP00000215838:M258K	M	+	2	0	TCN2	29341607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.590000	0.01623	-0.441000	0.05720	ATG		0.577	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		39	203	0	0	0	1	0	39	203					A	31011607	T	A	31011607	3	1	79	1	0	0	0	0	1	0	0	0	15759	1464	51	5	795	5	TCN2	22	31011607	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	166	31011607	20292959	20917	31234											
TCN2	6948	broad.mit.edu	37	chr22	31011762	31011762	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctgatcttcccagactgtCtggcaccacgaggtagccca	9	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011762C>A	ENST00000215838.3	+	6	1422	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TCN2_ENST00000405742.3_Missense_Mutation_p.L306M|TCN2_ENST00000407817.3_Missense_Mutation_p.L283M			P20062	TCO2_HUMAN	transcobalamin II	310					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)	CCCAGACTGTCTGGCACCACG	0.532																																						ENST00000215838.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22						c.(928-930)Ctg>Atg		transcobalamin II	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						149	127	135					22																	31011762		2203	4300	6503	SO:0001583	missense	6948				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	g.chr22:31011762C>A		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.928C>A	22.37:g.31011762C>A	ENSP00000215838:p.Leu310Met					TCN2_ENST00000407817.3_Missense_Mutation_p.L283M|TCN2_ENST00000405742.3_Missense_Mutation_p.L306M	p.L310M			P20062	TCO2_HUMAN			6	1422	+			310					Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	ENST00000215838.3	37	c.928C>A	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969362	0.53614	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.35421	1.31;1.31;1.31	5.33	2.1	0.27182	.	0.995000	0.08159	N	0.988829	T	0.29158	0.0725	N	0.22421	0.69	0.49299	D	0.999773	P;B;B	0.49696	0.927;0.436;0.436	P;B;B	0.45343	0.477;0.189;0.189	T	0.08027	-1.0742	10	0.48119	T	0.1	-1.1978	8.6513	0.34035	0.0:0.6047:0.314:0.0813	.	283;306;310	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	M	310;306;283	ENSP00000215838:L310M;ENSP00000385914:L306M;ENSP00000384914:L283M	ENSP00000215838:L310M	L	+	1	2	TCN2	29341762	0.375000	0.25089	0.993000	0.49108	0.850000	0.48378	0.998000	0.29744	0.883000	0.36040	0.655000	0.94253	CTG		0.532	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	NM_000355		41	479	1	0	2.47872e-24	1	2.8326e-24	41	479					A	31011762	C	A	31011762	3	1	79	1	0	0	0	0	1	0	0	0	15759	912	32	3	950	3	TCN2	22	31011762	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	155	31011762	20292804	20918	31235											
SLC35E4	339665	broad.mit.edu	37	chr22	31032960	31032960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgctctgcctgggggccGcctgcagcctggctggagag	17	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31032960G>A	ENST00000343605.4	+	1	1322	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	175	EamA.|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						CCTGGGGGCCGCCTGCAGCCT	0.682																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(523-525)Gcc>Acc		solute carrier family 35, member E4							22	22	22					22																	31032960		2202	4298	6500	SO:0001583	missense	339665					integral to membrane		g.chr22:31032960G>A		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.523G>A	22.37:g.31032960G>A	ENSP00000339626:p.Ala175Thr					SLC35E4_ENST00000300385.8_Missense_Mutation_p.A175T|SLC35E4_ENST00000406566.1_Missense_Mutation_p.A175T	p.A175T	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			1	1322	+			175			DUF6.|Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.523G>A	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412306	0.83340	.	.	ENSG00000100036	ENST00000343605;ENST00000300385;ENST00000406566;ENST00000451479	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.16	5.16	0.70880	Drug/metabolite transporter (1);	0.115704	0.64402	D	0.000015	T	0.52581	0.1743	L	0.38175	1.15	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.59056	0.851;0.637	T	0.50524	-0.8818	10	0.44086	T	0.13	-13.2384	12.5429	0.56182	0.0:0.0:0.8333:0.1666	.	175;175	Q6ICL7-2;Q6ICL7	.;S35E4_HUMAN	T	175;175;175;151	ENSP00000339626:A175T;ENSP00000300385:A175T;ENSP00000384377:A175T;ENSP00000413552:A151T	ENSP00000300385:A175T	A	+	1	0	SLC35E4	29362960	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	4.155000	0.58131	2.406000	0.81754	0.549000	0.68633	GCC		0.682	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		32	172	0	0	0	1	0	32	172					A	31032960	G	A	31032960	3	1	79	1	0	0	0	0	1	0	0	0	14637	1087	38	1	525	1	SLC35E4	22	31032960	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21198	31032960	20271606	20919	31236											
OSBP2	23762	broad.mit.edu	37	chr22	31091406	31091406	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttccaatgtcggggactggCacgacctccagtgccccact	11	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31091406C>T	ENST00000332585.6	+	1	614	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	170					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGGGGACTGGCACGACCTCCA	0.612																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(508-510)ggC>ggT		oxysterol binding protein 2							46	50	48					22																	31091406		2037	4182	6219	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31091406C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.510C>T	22.37:g.31091406C>T						OSBP2_ENST00000382310.3_Silent_p.G170G|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000446658.2_Silent_p.G170G|OSBP2_ENST00000403222.3_Intron	p.G170G	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			1	614	+			170					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.510C>T	CCDS43002.1																																																																																				0.612	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		66	302	0	0	0	1	0	66	302					T	31091406	C	T	31091406	2	4	79	1	0	0	0	0	0	0	0	1	11316	697	25	2		2	OSBP2	22	31091406	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58446	31091406	20213160	20920	31237											
OSBP2	23762	broad.mit.edu	37	chr22	31289171	31289171	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatggctggagcctctgGcaggagatcaccatctccag	12	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31289171G>A	ENST00000332585.6	+	9	2036	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	644					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGAGCCTCTGGCAGGAGATCA	0.592																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1930-1932)tgG>tgA		oxysterol binding protein 2							39	44	42					22																	31289171		2040	4203	6243	SO:0001587	stop_gained	23762				lipid transport	membrane	lipid binding	g.chr22:31289171G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1932G>A	22.37:g.31289171G>A	ENSP00000332576:p.Trp644*					OSBP2_ENST00000382310.3_Nonsense_Mutation_p.W595*|OSBP2_ENST00000407373.1_Nonsense_Mutation_p.W471*|OSBP2_ENST00000437268.2_Nonsense_Mutation_p.W386*|OSBP2_ENST00000401475.1_Nonsense_Mutation_p.W277*|OSBP2_ENST00000446658.2_Nonsense_Mutation_p.W643*|OSBP2_ENST00000496575.1_Intron|OSBP2_ENST00000535268.1_Nonsense_Mutation_p.W188*|OSBP2_ENST00000403222.3_Nonsense_Mutation_p.W478*	p.W644*	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			9	2036	+			644					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Nonsense_Mutation	SNP	ENST00000332585.6	37	c.1932G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.657238|6.657238	0.97739|0.97739	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000401475;ENST00000437268;ENST00000535268;ENST00000452656	.|.	.|.	.|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.055783	.|0.85682	.|D	.|0.000000	T|.	0.45377|.	0.1339|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33266|.	-0.9875|.	4|.	.|0.02654	.|T	.|1	-11.9824|-11.9824	17.6971|17.6971	0.88285|0.88285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	316|478;471;644;595;643;277;386;188;275	.|.	.|ENSP00000332576:W644X	G|W	+|+	2|3	0|0	OSBP2|OSBP2	29619171|29619171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.443000|6.443000	0.73447|0.73447	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.592	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		45	182	0	0	0	1	0	45	182					A	31289171	G	A	31289171	4	1	79	1	0	0	0	0	0	1	0	0	11316	1212	42	2	1966	2	OSBP2	22	31289171	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	197765	31289171	20015395	20921	31238											
SMTN	6525	broad.mit.edu	37	chr22	31483985	31483985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatctggcagagcggcggcGcatccgctcagccatccggg	15	14	2	2	rs145193216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31483985G>A	ENST00000347557.2	+	3	304	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H|SMTN_ENST00000333137.7_Missense_Mutation_p.R29H	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	29					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAGCGGCGGCGCATCCGCTCA	0.677																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(85-87)cGc>cAc		smoothelin							21	23	22					22																	31483985		2192	4282	6474	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31483985G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.86G>A	22.37:g.31483985G>A	ENSP00000328635:p.Arg29His					SMTN_ENST00000347557.2_Missense_Mutation_p.R29H|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.R29H	p.R29H	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			3	304	+			29					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.86G>A	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190406	0.58017	.	.	ENSG00000183963	ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	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	4.8	3.78	0.43462	.	0.000000	0.35970	N	0.002864	T	0.32645	0.0836	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.23185	0.081;0.081;0.047;0.047;0.047;0.038	B;B;B;B;B;B	0.20384	0.029;0.029;0.029;0.029;0.029;0.017	T	0.18178	-1.0345	10	0.87932	D	0	-7.7084	9.594	0.39563	0.1598:0.0:0.8402:0.0	.	85;83;21;29;29;29	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	H	83;29;83;83;29;29;29;29;21;21	ENSP00000398663:R83H;ENSP00000390453:R29H;ENSP00000399432:R83H;ENSP00000401341:R83H;ENSP00000351593:R29H;ENSP00000328635:R29H;ENSP00000329532:R29H;ENSP00000394637:R21H	ENSP00000329393:R29H	R	+	2	0	SMTN	29813985	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	1.173000	0.42796	0.650000	0.86243	CGC		0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		40	146	0	0	0	1	0	40	146					A	31483985	G	A	31483985	3	1	79	1	0	0	0	0	1	0	0	0	14864	1087	38	1	92	1	SMTN	22	31483985	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194814	31483985	19820581	20922	31239											
SMTN	6525	broad.mit.edu	37	chr22	31484516	31484516	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagctctcagcagcgggaagCtgagcagcgggctgccctgg	16	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484516C>A	ENST00000347557.2	+	4	436	c.218C>A	c.(217-219)gCt>gAt	p.A73D	SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D|SMTN_ENST00000333137.7_Missense_Mutation_p.A73D	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	73					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CAGCGGGAAGCTGAGCAGCGG	0.627																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(217-219)gCt>gAt		smoothelin							66	73	71					22																	31484516		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484516C>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.218C>A	22.37:g.31484516C>A	ENSP00000328635:p.Ala73Asp					SMTN_ENST00000347557.2_Missense_Mutation_p.A73D|SMTN_ENST00000475548.1_3'UTR|SMTN_ENST00000358743.1_Missense_Mutation_p.A73D	p.A73D	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			4	436	+			73					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.218C>A	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.18|18.18	3.567316|3.567316	0.65651|0.65651	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	T;T;T;T;T;T|.	0.46819|.	0.86;0.88;0.95;0.95;0.95;0.95|.	4.79|4.79	3.66|3.66	0.41972|0.41972	.|.	0.000000|.	0.37761|.	N|.	0.001950|.	T|T	0.40119|0.40119	0.1104|0.1104	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;D;D;P;P|.	0.89917|.	0.999;0.906;1.0;1.0;0.906;0.939|.	D;P;D;D;P;P|.	0.87578|.	0.997;0.628;0.998;0.998;0.628;0.494|.	T|T	0.17228|0.17228	-1.0376|-1.0376	10|5	0.44086|.	T|.	0.13|.	-11.835|-11.835	12.1168|12.1168	0.53870|0.53870	0.251:0.749:0.0:0.0|0.251:0.749:0.0:0.0	.|.	129;127;65;73;73;73|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	D|R	127;127;73;73;73;73;65;65|127	ENSP00000399432:A127D;ENSP00000401341:A127D;ENSP00000351593:A73D;ENSP00000328635:A73D;ENSP00000329532:A73D;ENSP00000394637:A65D|.	ENSP00000329393:A73D|.	A|S	+|+	2|3	0|2	SMTN|SMTN	29814516|29814516	0.705000|0.705000	0.27846|0.27846	0.978000|0.978000	0.43139|0.43139	0.991000|0.991000	0.79684|0.79684	1.138000|1.138000	0.31491|0.31491	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCT|AGC		0.627	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		63	640	1	0	2.6465e-34	1	3.14731e-34	63	640					A	31484516	C	A	31484516	3	1	79	1	0	0	0	0	1	0	0	0	14864	797	28	3	228	3	SMTN	22	31484516	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	531	31484516	19820050	20923	31240											
SMTN	6525	broad.mit.edu	37	chr22	31484712	31484712	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgctggtgagtatgaggagCgcaagctgatccgagctgcc	16	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484712C>T	ENST00000347557.2	+	5	540	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_ENST00000358743.1_Missense_Mutation_p.R108C|SMTN_ENST00000333137.7_Missense_Mutation_p.R108C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	108					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTATGAGGAGCGCAAGCTGAT	0.642																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(322-324)Cgc>Tgc		smoothelin							67	56	60					22																	31484712		2201	4300	6501	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484712C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.322C>T	22.37:g.31484712C>T	ENSP00000328635:p.Arg108Cys					SMTN_ENST00000347557.2_Missense_Mutation_p.R108C|SMTN_ENST00000358743.1_Missense_Mutation_p.R108C	p.R108C	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			5	540	+			108					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.322C>T	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.233178|4.233178	0.79688|0.79688	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000438223|ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000416786;ENST00000431481	.|T;T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72;-0.72	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.000000	.|0.38272	.|N	.|0.001743	T|T	0.72835|0.72835	0.3510|0.3510	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	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.999;0.999;0.997;0.999;0.999;0.999	T|T	0.71159|0.71159	-0.4674|-0.4674	5|9	.|.	.|.	.|.	-15.9456|-15.9456	13.2377|13.2377	0.59979|0.59979	0.1589:0.8411:0.0:0.0|0.1589:0.8411:0.0:0.0	.|.	.|164;162;100;108;108;108	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	V|C	162|108;108;108;108;100;20;100	.|ENSP00000351593:R108C;ENSP00000328635:R108C;ENSP00000329532:R108C;ENSP00000409990:R20C;ENSP00000394637:R100C	.|.	A|R	+|+	2|1	0|0	SMTN|SMTN	29814712|29814712	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	2.703000|2.703000	0.47110|0.47110	2.384000|2.384000	0.81235|0.81235	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.642	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		28	94	0	0	0	1	0	28	94					T	31484712	C	T	31484712	3	4	79	1	0	0	0	0	1	0	0	0	14864	768	27	1	336	1	SMTN	22	31484712	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	196	31484712	19819854	20924	31241											
SMTN	6525	broad.mit.edu	37	chr22	31494783	31494783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctcagcctcccaggcgCgcaaggccatgattgagaag	12	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31494783C>T	ENST00000347557.2	+	17	2508	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000333137.7_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	764					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTCCCAGGCGCGCAAGGCCAT	0.677																																						ENST00000333137.7																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						c.(2290-2292)Cgc>Tgc		smoothelin							14	18	17					22																	31494783		2198	4289	6487	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31494783C>T	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2290C>T	22.37:g.31494783C>T	ENSP00000328635:p.Arg764Cys					SMTN_ENST00000347557.2_Missense_Mutation_p.R764C|SMTN_ENST00000358743.1_Missense_Mutation_p.R764C|SMTN_ENST00000404574.1_Missense_Mutation_p.R287C	p.R764C	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN			17	2508	+			764					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.2290C>T	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626507	0.87560	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;D	0.94376	-0.51;-0.9;-0.9;1.41;-3.41	5.34	5.34	0.76211	.	0.000000	0.38272	N	0.001743	D	0.95306	0.8477	L	0.41492	1.28	0.80722	D	1	P;D;D;D;P;P;P;D	0.89917	0.936;0.971;1.0;1.0;0.828;0.876;0.828;0.962	P;P;D;D;B;P;B;P	0.83275	0.579;0.558;0.996;0.996;0.254;0.579;0.254;0.631	D	0.95709	0.8756	10	0.87932	D	0	-12.395	19.4284	0.94754	0.0:1.0:0.0:0.0	.	820;849;144;287;787;764;764;764	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	C	764;764;764;762;787;165;287;144	ENSP00000351593:R764C;ENSP00000328635:R764C;ENSP00000329532:R764C;ENSP00000392329:R165C;ENSP00000383919:R287C	ENSP00000329393:R762C	R	+	1	0	SMTN	29824783	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.438000	0.59961	2.686000	0.91538	0.561000	0.74099	CGC		0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		21	150	0	0	0	1	0	21	150					T	31494783	C	T	31494783	3	4	79	1	0	0	0	0	1	0	0	0	14864	768	27	1	2352	1	SMTN	22	31494783	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10071	31494783	19809783	20925	31242											
INPP5J	27124	broad.mit.edu	37	chr22	31529975	31529975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagggagaggatgacaGcacactggagctccttgcac	13	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31529975G>A	ENST00000331075.5	+	13	2640	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	864	Ser-rich.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GAGGATGACAGCACACTGGAG	0.647																																						ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(2590-2592)aGc>aAc		inositol polyphosphate-5-phosphatase J							23	28	26					22																	31529975		2177	4279	6456	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31529975G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2591G>A	22.37:g.31529975G>A	ENSP00000333262:p.Ser864Asn					INPP5J_ENST00000402238.1_Missense_Mutation_p.S203N|INPP5J_ENST00000404453.1_Missense_Mutation_p.S229N|INPP5J_ENST00000405300.1_Missense_Mutation_p.S497N|INPP5J_ENST00000401755.1_Missense_Mutation_p.S229N|INPP5J_ENST00000404390.3_Missense_Mutation_p.S496N|INPP5J_ENST00000412277.2_Missense_Mutation_p.S797N|INPP5J_ENST00000400294.2_Missense_Mutation_p.S497N	p.S864N			Q15735	PI5PA_HUMAN			13	2640	+			864			Ser-rich.		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.2591G>A		.	.	.	.	.	.	.	.	.	.	G	26.2	4.716751	0.89205	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	D;D;D;D;D;D;D;D	0.99311	-5.23;-5.21;-5.27;-5.27;-5.26;-5.73;-4.44;-4.44	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	D	0.98902	0.9628	L	0.32530	0.975	0.49687	D	0.999815	D;D;D;D	0.89917	0.999;0.999;1.0;0.993	D;D;D;D	0.69479	0.964;0.922;0.963;0.91	D	0.99927	1.1295	10	0.87932	D	0	.	18.2558	0.90019	0.0:0.0:1.0:0.0	.	497;203;864;496	Q15735-2;B5MCL8;Q15735;Q15735-3	.;.;PI5PA_HUMAN;.	N	864;797;497;497;496;203;229;229	ENSP00000333262:S864N;ENSP00000392924:S797N;ENSP00000383150:S497N;ENSP00000384596:S497N;ENSP00000384534:S496N;ENSP00000385264:S203N;ENSP00000385343:S229N;ENSP00000384540:S229N	ENSP00000333262:S864N	S	+	2	0	INPP5J	29859975	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.493000	0.73658	2.610000	0.88304	0.655000	0.94253	AGC		0.647	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		12	116	0	0	0	1	0	12	116					A	31529975	G	A	31529975	3	1	79	1	0	0	0	0	1	0	0	0	7789	971	34	2	1537	2	INPP5J	22	31529975	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35192	31529975	19774591	20926	31243											
PLA2G3	50487	broad.mit.edu	37	chr22	31531903	31531903	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgacaccctgatggCcctagggtctctggaacagc	13	14	1	2	rs374622090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31531903C>T	ENST00000215885.3	-	7	1588	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	446					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCTGATGGCCCTAGGGTCT	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		19023	0.0		0.0	False		,,,				2504	0.002					ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(1336-1338)Gcc>Acc		phospholipase A2, group III							43	45	44					22																	31531903		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31531903C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.1336G>A	22.37:g.31531903C>T	ENSP00000215885:p.Ala446Thr						p.A446T	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			7	1588	-			446					O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.1336G>A	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333843	0.60853	.	.	ENSG00000100078	ENST00000215885	T	0.30981	1.51	5.27	5.27	0.74061	Phospholipase A2 (2);	0.201738	0.42682	D	0.000673	T	0.52948	0.1766	M	0.71581	2.175	0.37492	D	0.916428	D	0.89917	1.0	D	0.80764	0.994	T	0.53613	-0.8414	10	0.30854	T	0.27	-9.2791	14.739	0.69440	0.0:1.0:0.0:0.0	.	446	Q9NZ20	PA2G3_HUMAN	T	446	ENSP00000215885:A446T	ENSP00000215885:A446T	A	-	1	0	PLA2G3	29861903	0.999000	0.42202	0.972000	0.41901	0.360000	0.29518	3.589000	0.53972	2.631000	0.89168	0.655000	0.94253	GCC		0.597	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		74	274	0	0	0	1	0	74	274					T	31531903	C	T	31531903	3	4	79	1	0	0	0	0	1	0	0	0	12042	739	26	2	197	2	PLA2G3	22	31531903	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1928	31531903	19772663	20927	31244											
PLA2G3	50487	broad.mit.edu	37	chr22	31535981	31535981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggactctcctcaagCgctcggcatgcctcccactg	9	18	2	0	rs149748193	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31535981C>T	ENST00000215885.3	-	1	612	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	120					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCCTCAAGCGCTCGGCATG	0.637													C|||	9	0.00179712	0.0068	0.0	5008	,	,		17025	0.0		0.0	False		,,,				2504	0.0					ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(358-360)gcG>gcA		phospholipase A2, group III		C		6,4400	11.4+/-27.6	0,6,2197	57	55	56		360	-3.9	0	22	dbSNP_134	56	0,8600		0,0,4300	yes	coding-synonymous	PLA2G3	NM_015715.3		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		120/510	31535981	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31535981C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.360G>A	22.37:g.31535981C>T							p.A120A	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			1	612	-			120					O95768	Silent	SNP	ENST00000215885.3	37	c.360G>A	CCDS13889.1																																																																																				0.637	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		51	214	0	0	0	1	0	51	214					T	31535981	C	T	31535981	2	4	79	1	0	0	0	0	0	0	0	1	12042	755	27	1		1	PLA2G3	22	31535981	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4078	31535981	19768585	20928	31245											
LIMK2	3985	broad.mit.edu	37	chr22	31654314	31654314	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attccctcaccaactggtacTatgagaaggatgggaagctc	10	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31654314T>C	ENST00000331728.4	+	3	268	c.154T>C	c.(154-156)Tat>Cat	p.Y52H	LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_5'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	52	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAACTGGTACTATGAGAAGGA	0.517																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(154-156)Tat>Cat		LIM domain kinase 2							174	161	165					22																	31654314		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31654314T>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.154T>C	22.37:g.31654314T>C	ENSP00000332687:p.Tyr52His					LIMK2_ENST00000340552.4_Missense_Mutation_p.Y31H|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y31H	p.Y52H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			3	268	+			52			LIM zinc-binding 1.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.154T>C	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799831	0.90538	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.66	5.66	0.87406	Zinc finger, LIM-type (4);	0.059305	0.64402	D	0.000001	D	0.93716	0.7992	M	0.70842	2.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.992;0.995;0.992	D	0.94347	0.7576	10	0.87932	D	0	-19.7958	15.0663	0.71999	0.0:0.0:0.0:1.0	.	84;31;52	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	H	52;31;84;31;31	ENSP00000332687:Y52H;ENSP00000388422:Y31H;ENSP00000330470:Y31H;ENSP00000339916:Y31H	ENSP00000332687:Y52H	Y	+	1	0	LIMK2	29984314	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	7.698000	0.84413	2.154000	0.67381	0.379000	0.24179	TAT		0.517	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		11	400	0	0	0	1	0	11	400					C	31654314	T	C	31654314	3	2	79	1	0	0	0	0	1	0	0	0	8834	1522	53	4	221	4	LIMK2	22	31654314	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	118333	31654314	19650252	20929	31246											
LIMK2	3985	broad.mit.edu	37	chr22	31669446	31669446	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccccaaggaaagagcTatgatgagacggtggatatc	13	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31669446T>C	ENST00000331728.4	+	14	1681	c.1567T>C	c.(1567-1569)Tat>Cat	p.Y523H	LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAAAGAGCTATGATGAGAC	0.532											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1567-1569)Tat>Cat		LIM domain kinase 2							277	193	221					22																	31669446		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31669446T>C	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1567T>C	22.37:g.31669446T>C	ENSP00000332687:p.Tyr523His		OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	826	LIMK2_ENST00000340552.4_Missense_Mutation_p.Y502H|LIMK2_ENST00000444929.2_Missense_Mutation_p.Y277H|LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000406516.1_Missense_Mutation_p.Y445H|LIMK2_ENST00000333611.4_Missense_Mutation_p.Y502H	p.Y523H	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			14	1681	+			523			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1567T>C	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.261998	0.80358	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.53	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.84846	2.72	0.52501	D	0.999959	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.977	D	0.95049	0.8185	10	0.87932	D	0	-29.6651	12.0303	0.53394	0.0:0.0:0.1445:0.8555	.	555;502;277;523;445	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	H	445;277;523;555;502;502	ENSP00000384602:Y445H;ENSP00000409522:Y277H;ENSP00000332687:Y523H;ENSP00000330470:Y502H;ENSP00000339916:Y502H	ENSP00000332687:Y523H	Y	+	1	0	LIMK2	29999446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	0.904000	0.36572	0.460000	0.39030	TAT		0.532	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		44	202	0	0	0	1	0	44	202					C	31669446	T	C	31669446	3	2	79	1	0	0	0	0	1	0	0	0	8834	1522	53	4	1678	4	LIMK2	22	31669446	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15132	31669446	19635120	20930	31247											
PATZ1	23598	broad.mit.edu	37	chr22	31731752	31731752	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctgccatgtatgctgccCgcaagtacttcccacacacc	8	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31731752C>T	ENST00000266269.5	-	3	2062	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	478					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						GTATGCTGCCCGCAAGTACTT	0.567																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1432-1434)cGg>cAg		POZ (BTB) and AT hook containing zinc finger 1							115	104	108					22																	31731752		2203	4300	6503	SO:0001583	missense	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31731752C>T	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.1433G>A	22.37:g.31731752C>T	ENSP00000266269:p.Arg478Gln					RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Missense_Mutation_p.R478Q|PATZ1_ENST00000351933.4_Missense_Mutation_p.R478Q|RP3-400N23.6_ENST00000440456.1_RNA	p.R478Q	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			3	2062	-			478					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	ENST00000266269.5	37	c.1433G>A	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374162	0.95923	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	T;T;T	0.11169	4.68;2.8;2.85	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.31578	0.945	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.75484	0.979;0.986;0.979	T	0.06303	-1.0834	10	0.15952	T	0.53	-17.0252	18.0252	0.89266	0.0:1.0:0.0:0.0	.	478;478;478	Q9HBE1-3;Q9HBE1;Q9HBE1-2	.;PATZ1_HUMAN;.	Q	478	ENSP00000266269:R478Q;ENSP00000384173:R478Q;ENSP00000337520:R478Q	ENSP00000266269:R478Q	R	-	2	0	PATZ1	30061752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	CGG		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		64	271	0	0	0	1	0	64	271					T	31731752	C	T	31731752	3	4	79	1	0	0	0	0	1	0	0	0	11518	652	23	1	642	1	PATZ1	22	31731752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	62306	31731752	19572814	20931	31248											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31835923	31835923	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgggcatggagggcagGggttgctgtagcacatctga	18	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31835923G>A	ENST00000397525.1	-	19	3124	c.2901C>T	c.(2899-2901)ccC>ccT	p.P967P	EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P|EIF4ENIF1_ENST00000382180.2_Silent_p.P622P|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Silent_p.P943P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	967						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						TGGAGGGCAGGGGTTGCTGTA	0.592																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2899-2901)ccC>ccT		eukaryotic translation initiation factor 4E nuclear import factor 1							102	83	89					22																	31835923		2203	4300	6503	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31835923G>A	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2901C>T	22.37:g.31835923G>A						EIF4ENIF1_ENST00000382180.2_Silent_p.P622P|EIF4ENIF1_ENST00000344710.5_Silent_p.P793P|EIF4ENIF1_ENST00000397523.1_Silent_p.P943P|EIF4ENIF1_ENST00000330125.5_Silent_p.P967P	p.P967P	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			19	3124	-			967					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.2901C>T	CCDS13898.1																																																																																				0.592	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		58	312	0	0	0	1	0	58	312					A	31835923	G	A	31835923	2	1	79	1	0	0	0	0	0	0	0	1	5053	1219	43	2		2	EIF4ENIF1	22	31835923	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104171	31835923	19468643	20932	31249											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31844161	31844161	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtgatggggctcatgGgtttgcgcatgccttggaat	17	7	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31844161G>T	ENST00000397525.1	-	13	2049	c.1826C>A	c.(1825-1827)cCc>cAc	p.P609H	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	609						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						GGGGCTCATGGGTTTGCGCAT	0.532																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1825-1827)cCc>cAc		eukaryotic translation initiation factor 4E nuclear import factor 1							239	208	219					22																	31844161		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31844161G>T	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.1826C>A	22.37:g.31844161G>T	ENSP00000380659:p.Pro609His					EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.P264H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.P434H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.P585H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.P609H	p.P609H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			13	2049	-			609					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.1826C>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880164	0.91740	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180;ENST00000418321	.	.	.	6.16	6.16	0.99307	.	0.404947	0.30630	N	0.009207	T	0.66376	0.2783	L	0.38175	1.15	0.42328	D	0.992287	P;D;P;P	0.61080	0.896;0.989;0.797;0.914	P;P;P;P	0.60345	0.694;0.873;0.57;0.726	T	0.66681	-0.5862	9	0.66056	D	0.02	-6.1473	18.0158	0.89239	0.0:0.0:1.0:0.0	.	434;609;434;585	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	434;609;609;585;264;166	.	ENSP00000328103:P609H	P	-	2	0	EIF4ENIF1	30174161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.493000	0.73658	2.937000	0.99478	0.650000	0.86243	CCC		0.532	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		94	500	1	0	2.28175e-60	1	2.86979e-60	94	500					T	31844161	G	T	31844161	3	4	79	1	0	0	0	0	1	0	0	0	5053	1232	43	3	1162	3	EIF4ENIF1	22	31844161	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8238	31844161	19460405	20933	31250											
SFI1	9814	broad.mit.edu	37	chr22	31942888	31942888	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	actacggaaggtcttcgaagAatggaaagaggagtggtggg	17	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31942888A>C	ENST00000400288.2	+	5	485	c.380A>C	c.(379-381)gAa>gCa	p.E127A	SFI1_ENST00000443326.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000443011.1_Missense_Mutation_p.E45A|SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000432498.1_Missense_Mutation_p.E127A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	127	Interaction with CETN2.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTCTTCGAAGAATGGAAAGAG	0.413																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(379-381)gAa>gCa		Sfi1 homolog, spindle assembly associated (yeast)							120	115	117					22																	31942888		1852	4094	5946	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31942888A>C	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.380A>C	22.37:g.31942888A>C	ENSP00000383145:p.Glu127Ala					SFI1_ENST00000443011.1_Missense_Mutation_p.E45A|SFI1_ENST00000400289.1_Missense_Mutation_p.E45A|SFI1_ENST00000414585.1_Missense_Mutation_p.E45A|SFI1_ENST00000400288.2_Missense_Mutation_p.E127A|SFI1_ENST00000540643.1_Missense_Mutation_p.E103A|SFI1_ENST00000443326.1_Missense_Mutation_p.E45A	p.E127A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			5	773	+			127			Interaction with CETN2.		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.380A>C	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	6.071	0.381436	0.11524	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	T;T;T;T;T;T;T	0.11495	2.98;3.02;2.83;2.77;2.77;2.83;2.99	5.58	1.07	0.20283	.	0.799403	0.11209	N	0.587951	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B;B;D;B;P;P	0.71674	0.027;0.033;0.998;0.056;0.717;0.663	B;B;D;B;B;B	0.72625	0.02;0.034;0.978;0.034;0.352;0.159	T	0.24905	-1.0147	10	0.51188	T	0.08	.	4.3223	0.11023	0.5714:0.1658:0.2628:0.0	.	103;45;45;127;127;103	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	A	127;103;45;103;45;45;45;127	ENSP00000402679:E127A;ENSP00000443025:E103A;ENSP00000416469:E45A;ENSP00000397148:E45A;ENSP00000401199:E45A;ENSP00000383146:E45A;ENSP00000383145:E127A	ENSP00000383145:E127A	E	+	2	0	SFI1	30272888	0.617000	0.27043	0.053000	0.19242	0.270000	0.26580	0.916000	0.28651	-0.116000	0.11893	0.482000	0.46254	GAA		0.413	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		115	458	0	0	0	1	0	115	458					C	31942888	A	C	31942888	3	2	79	1	0	0	0	0	1	0	0	0	14206	246	9	4	394	4	SFI1	22	31942888	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	98727	31942888	19361678	20934	31251											
SFI1	9814	broad.mit.edu	37	chr22	32003945	32003945	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggtccagtggcgggaagCtgtgtcagtgcagatgtatt	15	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32003945C>A	ENST00000400288.2	+	22	2285	c.2180C>A	c.(2179-2181)gCt>gAt	p.A727D	SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D|SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000432498.1_Missense_Mutation_p.A696D	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	727					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						TGGCGGGAAGCTGTGTCAGTG	0.607																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(2086-2088)gCt>gAt		Sfi1 homolog, spindle assembly associated (yeast)							48	54	52					22																	32003945		2071	4211	6282	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32003945C>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2180C>A	22.37:g.32003945C>A	ENSP00000383145:p.Ala727Asp					SFI1_ENST00000443326.1_Missense_Mutation_p.A645D|SFI1_ENST00000443011.1_Missense_Mutation_p.A574D|SFI1_ENST00000540643.1_Missense_Mutation_p.A672D|SFI1_ENST00000400289.1_Missense_Mutation_p.A645D|SFI1_ENST00000414585.1_Missense_Mutation_p.A574D|SFI1_ENST00000400288.2_Missense_Mutation_p.A727D	p.A696D	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			21	2480	+			727					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.2087C>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644410	0.29246	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16073	2.92;2.92;2.75;2.77;2.77;2.75;2.92;2.37	5.08	1.67	0.24075	.	0.464849	0.24111	N	0.041452	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	P;P;B;P;P	0.46987	0.888;0.773;0.302;0.789;0.573	P;B;B;P;B	0.47915	0.561;0.3;0.109;0.48;0.3	T	0.12268	-1.0554	10	0.62326	D	0.03	.	2.7705	0.05333	0.2125:0.4995:0.0:0.2879	.	672;633;645;696;727	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;SFI1_HUMAN	D	696;672;645;574;574;645;727;310	ENSP00000402679:A696D;ENSP00000443025:A672D;ENSP00000416469:A645D;ENSP00000397148:A574D;ENSP00000401199:A574D;ENSP00000383146:A645D;ENSP00000383145:A727D;ENSP00000398871:A310D	ENSP00000383145:A727D	A	+	2	0	SFI1	30333945	0.020000	0.18652	0.144000	0.22314	0.059000	0.15707	-0.020000	0.12525	0.138000	0.18790	-1.288000	0.01363	GCT		0.607	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		18	128	1	0	1.9806e-07	1	2.05782e-07	18	128					A	32003945	C	A	32003945	3	1	79	1	0	0	0	0	1	0	0	0	14206	797	28	3	2262	3	SFI1	22	32003945	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61057	32003945	19300621	20935	31252											
SFI1	9814	broad.mit.edu	37	chr22	32014362	32014362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccagcccattggcgcCtgcgttgcccgcatccaggc	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32014362C>T	ENST00000400288.2	+	33	3792	c.3687C>T	c.(3685-3687)gcC>gcT	p.A1229A	PISD_ENST00000478893.1_5'Flank|SFI1_ENST00000443326.1_Silent_p.A1147A|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000443011.1_Silent_p.A1076A|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000432498.1_Silent_p.A1198A	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1229					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						CCATTGGCGCCTGCGTTGCCC	0.687																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(3592-3594)gcC>gcT		Sfi1 homolog, spindle assembly associated (yeast)							14	17	16					22																	32014362		1957	4127	6084	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32014362C>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3687C>T	22.37:g.32014362C>T						SFI1_ENST00000443326.1_Silent_p.A1147A|SFI1_ENST00000443011.1_Silent_p.A1076A|SFI1_ENST00000540643.1_Silent_p.A1174A|SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000400289.1_Silent_p.A1147A|SFI1_ENST00000414585.1_3'UTR|SFI1_ENST00000400288.2_Silent_p.A1229A	p.A1198A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			32	3987	+			1229					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.3594C>T	CCDS43004.1																																																																																				0.687	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		22	88	0	0	0	1	0	22	88					T	32014362	C	T	32014362	2	4	79	1	0	0	0	0	0	0	0	1	14206	668	24	2		2	SFI1	22	32014362	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10417	32014362	19290204	20936	31253											
C22orf30	253143	broad.mit.edu	37	chr22	32108130	32108130	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaatgaagagaagagatttCgaaggagcagacagaaggac	15	4	0	5	rs540552404		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32108130C>T	ENST00000327423.6	-	4	5884	c.5695G>A	c.(5695-5697)Gaa>Aaa	p.E1899K	PRR14L_ENST00000397493.2_Missense_Mutation_p.E1899K|PRR14L_ENST00000434485.1_Missense_Mutation_p.E1899K	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1899										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAAGAGATTTCGAAGGAGCAG	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18859	0.0		0.0	False		,,,				2504	0.0					ENST00000327423.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						c.(5695-5697)Gaa>Aaa		proline rich 14-like							99	94	96					22																	32108130		2203	4300	6503	SO:0001583	missense	253143							g.chr22:32108130C>T	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.5695G>A	22.37:g.32108130C>T	ENSP00000331845:p.Glu1899Lys					PRR14L_ENST00000397493.2_Missense_Mutation_p.E1899K|PRR14L_ENST00000434485.1_Missense_Mutation_p.E1899K	p.E1899K	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN			4	5884	-			1899					Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	ENST00000327423.6	37	c.5695G>A	CCDS13900.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.95|16.95	3.263306|3.263306	0.59431|0.59431	.|.	.|.	ENSG00000183530|ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485|ENST00000330495	T;T;T|.	0.34472|.	1.36;1.36;1.36|.	5.66|5.66	2.45|2.45	0.29901|0.29901	.|.	0.509449|.	0.22600|.	N|.	0.057964|.	T|T	0.24812|0.24812	0.0602|0.0602	N|N	0.22421|0.22421	0.69|0.69	0.26226|0.26226	N|N	0.979083|0.979083	P;P;P|.	0.50617|.	0.937;0.842;0.842|.	B;B;B|.	0.43623|.	0.425;0.129;0.214|.	T|T	0.20472|0.20472	-1.0274|-1.0274	10|5	0.21540|.	T|.	0.41|.	-5.2967|-5.2967	7.4879|7.4879	0.27443|0.27443	0.0:0.6671:0.0:0.3329|0.0:0.6671:0.0:0.3329	.|.	1899;1899;1899|.	Q5THK1-2;Q5THK1;Q5THK1-4|.	.;PR14L_HUMAN;.|.	K|Q	1899|201	ENSP00000380630:E1899K;ENSP00000331845:E1899K;ENSP00000388314:E1899K|.	ENSP00000331845:E1899K|.	E|R	-|-	1|2	0|0	PRR14L|PRR14L	30438130|30438130	0.939000|0.939000	0.31865|0.31865	0.952000|0.952000	0.39060|0.39060	0.998000|0.998000	0.95712|0.95712	0.650000|0.650000	0.24858|0.24858	0.722000|0.722000	0.32252|0.32252	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.507	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074993.2	NM_173566		18	443	0	0	0	1	0	18	443					T	32108130	C	T	32108130	3	4	79	1	0	0	0	0	1	0	0	0	2149	893	31	1	784	1	C22orf30	22	32108130	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	93768	32108130	19196436	20937	31254											
DEPDC5	9681	broad.mit.edu	37	chr22	32215144	32215144	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agagcactgattaaccccttCgctccctctcggatgcccat	7	16	1	2	rs368563183		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32215144C>T	ENST00000382112.3	+	21	1873	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_ENST00000536766.1_Silent_p.F573F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F|DEPDC5_ENST00000400246.1_Silent_p.F601F|DEPDC5_ENST00000400248.2_Silent_p.F601F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	601					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.F601F(3)		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						TTAACCCCTTCGCTCCCTCTC	0.542																																						ENST00000400246.1																			3	Substitution - coding silent(3)	p.F601F(3)	lung(2)|large_intestine(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						c.(1801-1803)ttC>ttT		DEP domain containing 5		C	,,,	0,4122		0,0,2061	141	141	141		1803,1803,1803,1803	-5.4	0.8	22		141	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	,,,	0,1,6270	TT,TC,CC		0.0119,0.0,0.0080	,,,	601/1595,601/1604,601/1504,601/1573	32215144	1,12541	2061	4210	6271	SO:0001819	synonymous_variant	9681				intracellular signal transduction			g.chr22:32215144C>T	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.1803C>T	22.37:g.32215144C>T						DEPDC5_ENST00000400248.1_Silent_p.F601F|DEPDC5_ENST00000535622.1_Silent_p.F601F|DEPDC5_ENST00000382105.2_Silent_p.F601F|DEPDC5_ENST00000382112.3_Silent_p.F601F|DEPDC5_ENST00000536766.1_Silent_p.F573F|DEPDC5_ENST00000400249.2_Silent_p.F601F|DEPDC5_ENST00000266091.3_Silent_p.F601F|DEPDC5_ENST00000382111.2_Silent_p.F601F	p.F601F			O75140	DEPD5_HUMAN			22	1945	+			601					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Silent	SNP	ENST00000382112.3	37	c.1803C>T	CCDS46692.1																																																																																				0.542	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		112	512	0	0	0	1	0	112	512					T	32215144	C	T	32215144	2	4	79	1	0	0	0	0	0	0	0	1	4458	883	31	1		1	DEPDC5	22	32215144	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	107014	32215144	19089422	20938	31255											
DEPDC5	9681	broad.mit.edu	37	chr22	32217617	32217617	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttagcatatcatgaagctgCtggaaggtgaggatgtgcac	14	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32217617C>A	ENST00000382112.3	+	22	2070	c.2000C>A	c.(1999-2001)gCt>gAt	p.A667D	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A667D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	667					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						CATGAAGCTGCTGGAAGGTGA	0.522																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1999-2001)gCt>gAt		DEP domain containing 5							119	126	124					22																	32217617		2119	4242	6361	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32217617C>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2000C>A	22.37:g.32217617C>A	ENSP00000371546:p.Ala667Asp					DEPDC5_ENST00000400248.1_Missense_Mutation_p.A667D|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382112.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A667D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A667D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A667D	p.A667D			O75140	DEPD5_HUMAN			23	2142	+			667					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2000C>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.184099|4.184099	0.78677|0.78677	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24908|.	1.85;1.9;1.83;1.9;1.83;1.9|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.058834|.	0.64402|.	D|.	0.000001|.	T|.	0.53481|.	0.1799|.	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;P;B;B|.	0.35272|.	0.418;0.493;0.039;0.181|.	B;B;B;B|.	0.26864|.	0.046;0.074;0.034;0.034|.	T|.	0.46020|.	-0.9221|.	10|.	0.16896|.	T|.	0.51|.	.|.	19.2671|19.2671	0.93993|0.93993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667;667;667;667|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	D|X	667|64	ENSP00000266091:A667D;ENSP00000383108:A667D;ENSP00000383105:A667D;ENSP00000371546:A667D;ENSP00000371545:A667D;ENSP00000383107:A667D|.	ENSP00000266091:A667D|.	A|C	+|+	2|3	0|2	DEPDC5|DEPDC5	30547617|30547617	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.999000|0.999000	0.98932|0.98932	5.624000|5.624000	0.67764|0.67764	2.801000|2.801000	0.96364|0.96364	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.522	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		152	720	1	0	7.52437e-61	1	9.46778e-61	152	720					A	32217617	C	A	32217617	3	1	79	1	0	0	0	0	1	0	0	0	4458	797	28	3	2104	3	DEPDC5	22	32217617	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2473	32217617	19086949	20939	31256											
DEPDC5	9681	broad.mit.edu	37	chr22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacccaggacaggagtccagCtgctctctgaacagaagggc	12	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32270272C>A	ENST00000382112.3	+	35	3620	c.3550C>A	c.(3550-3552)Ctg>Atg	p.L1184M	DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000400246.1_Missense_Mutation_p.L1193M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1193					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						AGGAGTCCAGCTGCTCTCTGA	0.572																																						ENST00000400246.1																			0				breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(3577-3579)Ctg>Atg		DEP domain containing 5							42	45	44					22																	32270272		2047	4195	6242	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32270272C>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3550C>A	22.37:g.32270272C>A	ENSP00000371546:p.Leu1184Met					DEPDC5_ENST00000400248.1_Missense_Mutation_p.L1162M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1184M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M	p.L1193M			O75140	DEPD5_HUMAN			36	3719	+			1162			DEP.		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3577C>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985187|3.985187	0.74474|0.74474	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	.|T;T;T;T;T;T;T;T;T	.|0.37915	.|2.35;2.35;2.35;2.35;1.17;2.35;2.35;2.35;2.35	4.92|4.92	3.88|3.88	0.44766|0.44766	.|DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.51041|0.51041	0.1651|0.1651	L|L	0.57536|0.57536	1.79|1.79	0.54753|0.54753	D|D	0.999984|0.999984	.|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;0.998;0.999;0.999	T|T	0.34925|0.34925	-0.9809|-0.9809	5|10	.|0.16420	.|T	.|0.52	.|.	12.9143|12.9143	0.58197|0.58197	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	.|1193;1093;579;1171;1184;1162	.|B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;DEPD5_HUMAN	D|M	568|1093;1171;1162;1093;1193;1115;1184;1193;1162;10	.|ENSP00000440210:L1093M;ENSP00000266091:L1171M;ENSP00000383108:L1162M;ENSP00000383105:L1193M;ENSP00000371539:L1115M;ENSP00000371546:L1184M;ENSP00000371545:L1193M;ENSP00000383107:L1162M;ENSP00000446286:L10M	.|ENSP00000266091:L1171M	A|L	+|+	2|1	0|2	DEPDC5|DEPDC5	30600272|30600272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.227000|3.227000	0.51262|0.51262	2.558000|2.558000	0.86282|0.86282	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.572	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		15	50	1	0	2.31682e-05	1	2.36778e-05	15	50					A	32270272	C	A	32270272	3	1	79	1	0	0	0	0	1	0	0	0	4458	796	28	3	3706	3	DEPDC5	22	32270272	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	52655	32270272	19034294	20940	31257											
YWHAH	7533	broad.mit.edu	37	chr22	32352162	32352162	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacctctctccaatgaagatCgaaatctcctctctgtggcc	6	14	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32352162C>T	ENST00000248975.5	+	2	397	c.124C>T	c.(124-126)Cga>Tga	p.R42*	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR|snoU13_ENST00000459049.1_RNA	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	42					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CAATGAAGATCGAAATCTCCT	0.448																																					Ovarian(98;460 2060 9263 44007)	ENST00000248975.5																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						c.(124-126)Cga>Tga		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide							101	93	96					22																	32352162		2203	4300	6503	SO:0001587	stop_gained	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352162C>T	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"14-3-3 eta"	113508	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.124C>T	22.37:g.32352162C>T	ENSP00000248975:p.Arg42*					YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	p.R42*	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN			2	397	+			42						Nonsense_Mutation	SNP	ENST00000248975.5	37	c.124C>T	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.378687	0.42207	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	.	.	.	5.95	2.6	0.31112	.	0.075854	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0057	9.3128	0.37915	0.4046:0.5275:0.0:0.0679	.	.	.	.	X	42;29	.	ENSP00000248975:R42X	R	+	1	2	YWHAH	30682162	0.267000	0.24122	1.000000	0.80357	0.995000	0.86356	0.191000	0.17076	0.349000	0.23975	0.655000	0.94253	CGA		0.448	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		91	301	0	0	0	1	0	91	301					T	32352162	C	T	32352162	4	4	79	1	0	0	0	0	0	1	0	0	17558	876	31	1	130	1	YWHAH	22	32352162	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	81890	32352162	18952404	20941	31258											
SLC5A1	6523	broad.mit.edu	37	chr22	32495260	32495260	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcttcgattacatccaGtccatcaccagttacttggg	6	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32495260G>A	ENST00000266088.4	+	12	1621	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC5A1_ENST00000543737.1_Silent_p.Q330Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	457					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ATTACATCCAGTCCATCACCA	0.493																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1369-1371)caG>caA		solute carrier family 5 (sodium/glucose cotransporter), member 1							256	236	243					22																	32495260		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32495260G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1371G>A	22.37:g.32495260G>A						SLC5A1_ENST00000543737.1_Silent_p.Q330Q	p.Q457Q	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			12	1621	+			457					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1371G>A	CCDS13902.1																																																																																				0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		237	984	0	0	0	1	0	237	984					A	32495260	G	A	32495260	2	1	79	1	0	0	0	0	0	0	0	1	14711	1020	36	2		2	SLC5A1	22	32495260	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	143098	32495260	18809306	20942	31259											
SLC5A1	6523	broad.mit.edu	37	chr22	32498116	32498116	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcccagcaactgtcccacGattatctgtggggtgcacta	11	12	1	0	rs201764381		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32498116G>A	ENST00000266088.4	+	13	1807	c.1557G>A	c.(1555-1557)acG>acA	p.T519T	SLC5A1_ENST00000543737.1_Silent_p.T392T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	519					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ACTGTCCCACGATTATCTGTG	0.493																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1555-1557)acG>acA		solute carrier family 5 (sodium/glucose cotransporter), member 1							343	266	292					22																	32498116		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32498116G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1557G>A	22.37:g.32498116G>A						SLC5A1_ENST00000543737.1_Silent_p.T392T	p.T519T	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			13	1807	+			519					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1557G>A	CCDS13902.1																																																																																				0.493	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		9	556	0	0	0	1	0	9	556					A	32498116	G	A	32498116	2	1	79	1	0	0	0	0	0	0	0	1	14711	1045	37	1		1	SLC5A1	22	32498116	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2856	32498116	18806450	20943	31260											
C22orf42	150297	broad.mit.edu	37	chr22	32555003	32555003	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatcttcggcgtcttcGggaggctgaggtactgcatg	14	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32555003G>A	ENST00000382097.3	-	1	272	c.200C>T	c.(199-201)cCg>cTg	p.P67L	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	67										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGGCGTCTTCGGGAGGCTGAG	0.557																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(199-201)cCg>cTg		chromosome 22 open reading frame 42							181	175	177					22																	32555003		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32555003G>A	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.200C>T	22.37:g.32555003G>A	ENSP00000371529:p.Pro67Leu						p.P67L	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			1	272	-			67					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.200C>T	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068624	0.07228	.	.	ENSG00000205856	ENST00000382097	T	0.24723	1.84	.	.	.	.	.	.	.	.	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.59546	0.859	T	0.15983	-1.0418	7	0.51188	T	0.08	.	.	.	.	.	67	Q6IC83	CV042_HUMAN	L	67	ENSP00000371529:P67L	ENSP00000371529:P67L	P	-	2	0	C22orf42	30885003	0.003000	0.15002	0.025000	0.17156	0.029000	0.11900	0.226000	0.17776	0.064000	0.16427	0.064000	0.15345	CCG		0.557	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		241	1045	0	0	0	1	0	241	1045					A	32555003	G	A	32555003	3	1	79	1	0	0	0	0	1	0	0	0	2156	1116	39	1	591	1	C22orf42	22	32555003	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56887	32555003	18749563	20944	31261											
RFPL2	10739	broad.mit.edu	37	chr22	32586765	32586765	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttggagtgagggcttatttGgcctccccaggacggactgg	15	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32586765G>T	ENST00000400237.1	-	5	2066	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000400236.3_Silent_p.A287A|RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	377							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGGCTTATTTGGCCTCCCCAG	0.448																																						ENST00000400236.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(859-861)gcC>gcA		ret finger protein-like 2							76	83	80					22																	32586765		2183	4277	6460	SO:0001819	synonymous_variant	10739						zinc ion binding	g.chr22:32586765G>T	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.1131C>A	22.37:g.32586765G>T						RFPL2_ENST00000400237.1_Silent_p.A377A|RFPL2_ENST00000248983.4_Silent_p.A287A|RFPL2_ENST00000248980.4_Silent_p.A316A|RFPL2_ENST00000489846.1_5'UTR	p.A287A	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN			5	2066	-			377			B30.2/SPRY.			Silent	SNP	ENST00000400237.1	37	c.861C>A	CCDS43009.2																																																																																				0.448	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		95	507	1	0	6.00224e-42	1	7.30009e-42	95	507					T	32586765	G	T	32586765	2	4	79	1	0	0	0	0	0	0	0	1	13304	1335	47	3		3	RFPL2	22	32586765	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31762	32586765	18717801	20945	31262											
RFPL3	10738	broad.mit.edu	37	chr22	32754256	32754256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcaagtgcatcaattcGctgcagaaggagccccatgg	11	12	2	1	rs61729170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(196-198)tcG>tcA		ret finger protein-like 3							121	114	117					22																	32754256		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754256G>A	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.198G>A	22.37:g.32754256G>A						RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3_ENST00000397468.1_Silent_p.S37S	p.S66S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	403	+			66					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.198G>A	CCDS43011.1																																																																																				0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		100	406	0	0	0	1	0	100	406					A	32754256	G	A	32754256	2	1	79	1	0	0	0	0	0	0	0	1	13305	1074	38	1		1	RFPL3	22	32754256	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167491	32754256	18550310	20946	31263											
C22orf28	254240	broad.mit.edu	37	chr22	32808119	32808119	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttctccaagaactgcaGctcatcattatagctgcgac	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32808119G>A	ENST00000397452.1	-	0	2091				RTCB_ENST00000216038.5_Silent_p.L9L|RTCB_ENST00000451746.2_Silent_p.L9L			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AAGAACTGCAGCTCATCATTA	0.537																																						ENST00000216038.5																			0											c.(25-27)Ctg>Ttg		RNA 2',3'-cyclic phosphate and 5'-OH ligase							91	92	92					22																	32808119		2203	4300	6503	SO:0001628	intergenic_variant	51493							g.chr22:32808119G>A	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		22.37:g.32808119G>A						RTCB_ENST00000451746.2_Silent_p.L9L	p.L9L	NM_014306.4	NP_055121.1					1	123	-								A2RRF1	Silent	SNP	ENST00000397452.1	37	c.25C>T	CCDS13906.1																																																																																				0.537	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		142	597	0	0	0	1	0	142	597					A	32808119	G	A	32808119	1	1	79	0	1	0	0	0	0	0	0	0	2147	962	34	2		2	C22orf28	22	32808119	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53863	32808119	18496447	20947	31264											
BPIL2	254240	broad.mit.edu	37	chr22	32843277	32843277	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgctttgattcccactccaGgcacaaaagccaatgaggta	9	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32843277G>T	ENST00000397452.1	-	4	406	c.296C>A	c.(295-297)cCt>cAt	p.P99H	BPIFC_ENST00000300399.3_Missense_Mutation_p.P99H|BPIFC_ENST00000534972.1_De_novo_Start_OutOfFrame|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	99						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TCCCACTCCAGGCACAAAAGC	0.448																																						ENST00000534972.1																			0													BPI fold containing family C							121	107	112					22																	32843277		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32843277G>T	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.296C>A	22.37:g.32843277G>T	ENSP00000380594:p.Pro99His					BPIFC_ENST00000300399.3_Missense_Mutation_p.P99H|BPIFC_ENST00000397452.1_Missense_Mutation_p.P99H|BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame				Q8NFQ6	BPIL2_HUMAN			0	421	-								A2RRF1	Translation_Start_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878428	0.51801	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.07114	3.22;3.22	5.87	5.87	0.94306	.	0.053128	0.85682	D	0.000000	T	0.32941	0.0846	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01516	-1.1335	10	0.87932	D	0	-19.4548	16.0731	0.80948	0.0:0.0:1.0:0.0	.	99	Q8NFQ6	BPIFC_HUMAN	H	99	ENSP00000380594:P99H;ENSP00000300399:P99H	ENSP00000300399:P99H	P	-	2	0	BPIFC	31173277	1.000000	0.71417	0.994000	0.49952	0.149000	0.21700	4.697000	0.61782	2.941000	0.99782	0.655000	0.94253	CCT		0.448	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		77	312	1	0	3.86735e-44	1	4.73008e-44	77	312					T	32843277	G	T	32843277	3	4	79	1	0	0	0	0	1	0	0	0	1496	1000	35	3	1279	3	BPIL2	22	32843277	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35158	32843277	18461289	20948	31265											
FBXO7	25793	broad.mit.edu	37	chr22	32875113	32875113	+	Missense_Mutation	SNP	T	T	C													cagcgcctaatataccttcaTccacagattcagagcattct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875113T>C	ENST00000266087.7	+	2	595	c.268T>C	c.(268-270)Tcc>Ccc	p.S90P	FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	90					cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATACCTTCATCCACAGATTC	0.443																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(268-270)Tcc>Ccc		F-box protein 7							185	185	185					22																	32875113		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32875113T>C	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.268T>C	22.37:g.32875113T>C	ENSP00000266087:p.Ser90Pro					FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR	p.S90P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			2	595	+			90					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.268T>C	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291808	0.40594	.	.	ENSG00000100225	ENST00000266087	T	0.41065	1.01	5.45	4.41	0.53225	.	0.118284	0.64402	D	0.000011	T	0.29061	0.0722	L	0.42529	1.33	0.80722	D	1	B	0.20368	0.044	B	0.14023	0.01	T	0.13548	-1.0505	10	0.22109	T	0.4	-20.8168	4.9583	0.14054	0.0:0.2026:0.0:0.7974	.	90	Q9Y3I1	FBX7_HUMAN	P	90	ENSP00000266087:S90P	ENSP00000266087:S90P	S	+	1	0	FBXO7	31205113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.616000	0.36933	2.065000	0.61736	0.454000	0.30748	TCC		0.443	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			172	752	0	0	0	1	0	172	752					C	32875113	T	C	32875113	3	2	79	1	0	0	0	0	1	0	0	0	5785	1435	50	4	315	4	FBXO7	22	32875113	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	31836	32875113	18429453	20949	31266	204	2									
FBXO7	25793	broad.mit.edu	37	chr22	32875119	32875119	+	Missense_Mutation	SNP	G	G	T													ctaatataccttcatccacaGattcagagcattcttcactc					rs139135860	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875119G>T	ENST00000266087.7	+	2	601	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	92	Important for interaction with PINK1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATCCACAGATTCAGAGCA	0.433																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(274-276)Gat>Tat		F-box protein 7							175	176	176					22																	32875119		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32875119G>T	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.274G>T	22.37:g.32875119G>T	ENSP00000266087:p.Asp92Tyr					FBXO7_ENST00000397426.1_5'UTR|FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000465418.1_3'UTR	p.D92Y	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			2	601	+			92					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.274G>T	CCDS13907.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061175|3.061175	0.55432|0.55432	.|.	.|.	ENSG00000100225|ENSG00000100225	ENST00000452138;ENST00000382058|ENST00000266087	.|T	.|0.56941	.|0.43	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.341251	.|0.31697	.|N	.|0.007220	.|T	.|0.57021	.|0.2025	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|P	.|0.52316	.|0.952	.|P	.|0.47645	.|0.553	.|T	.|0.61676	.|-0.7014	.|10	.|0.52906	.|T	.|0.07	.|-13.235	9.1792|9.1792	0.37131|0.37131	0.0:0.1374:0.6345:0.228|0.0:0.1374:0.6345:0.228	.|.	.|92	.|Q9Y3I1	.|FBX7_HUMAN	.|Y	-1|92	.|ENSP00000266087:D92Y	.|ENSP00000266087:D92Y	.|D	+|+	.|1	.|0	FBXO7|FBXO7	31205119|31205119	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.211000|2.211000	0.42825|0.42825	2.553000|2.553000	0.86117|0.86117	0.555000|0.555000	0.69702|0.69702	.|GAT		0.433	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			195	684	1	0	5.43764e-100	1	6.99375e-100	195	684					T	32875119	G	T	32875119	3	4	79	1	0	0	0	0	1	0	0	0	5785	956	33	3	321	3	FBXO7	22	32875119	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	32875119	18429447	20950	31267	204	2									
FBXO7	25793	broad.mit.edu	37	chr22	32894330	32894330	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccctatgttggagacccaaTcagttcactcattcctggtc	7	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32894330T>C	ENST00000266087.7	+	9	1709	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T|FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	461	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGACCCAATCAGTTCACTC	0.552																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1381-1383)aTc>aCc		F-box protein 7							113	104	107					22																	32894330		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894330T>C	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1382T>C	22.37:g.32894330T>C	ENSP00000266087:p.Ile461Thr					FBXO7_ENST00000397426.1_Missense_Mutation_p.I347T|FBXO7_ENST00000382058.3_Missense_Mutation_p.I382T	p.I461T	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1709	+			461					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1382T>C	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.620332	0.46736	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.73258	-0.73;-0.18;-0.16	5.93	5.93	0.95920	.	0.358855	0.29558	N	0.011814	T	0.69260	0.3091	M	0.66939	2.045	0.35874	D	0.828461	B;B;B	0.29862	0.165;0.259;0.165	B;B;B	0.22753	0.027;0.041;0.027	T	0.74996	-0.3473	10	0.54805	T	0.06	-4.8952	16.3798	0.83452	0.0:0.0:0.0:1.0	.	461;382;461	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	T	461;382;347	ENSP00000266087:I461T;ENSP00000371490:I382T;ENSP00000380571:I347T	ENSP00000266087:I461T	I	+	2	0	FBXO7	31224330	.	.	0.064000	0.19789	0.984000	0.73092	.	.	2.271000	0.75665	0.533000	0.62120	ATC		0.552	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			104	442	0	0	0	1	0	104	442					C	32894330	T	C	32894330	3	2	79	1	0	0	0	0	1	0	0	0	5785	1435	50	4	1457	4	FBXO7	22	32894330	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	19211	32894330	18410236	20951	31268											
SYN3	8224	broad.mit.edu	37	chr22	32992713	32992713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactaccaccgggaagtgtgGggctgtgacctgaaagagac	15	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32992713G>A	ENST00000358763.2	-	7	963	c.721C>T	c.(721-723)Cca>Tca	p.P241S	SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	241	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGAAGTGTGGGGCTGTGACC	0.512																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(721-723)Cca>Tca		synapsin III							142	109	120					22																	32992713		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32992713G>A	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.721C>T	22.37:g.32992713G>A	ENSP00000351614:p.Pro241Ser					SYN3_ENST00000332840.5_Missense_Mutation_p.P241S	p.P241S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			7	963	-			241			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.721C>T	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303253	0.40795	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.32272	1.46;1.46	5.05	5.05	0.67936	ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	L	0.55990	1.75	0.45366	D	0.998351	D;D;D	0.59357	0.985;0.985;0.985	D;D;D	0.70487	0.969;0.969;0.969	T	0.29397	-1.0013	10	0.30854	T	0.27	.	13.9058	0.63834	0.0:0.0:1.0:0.0	.	240;241;241	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	S	241	ENSP00000351614:P241S;ENSP00000330219:P241S	ENSP00000330219:P241S	P	-	1	0	SYN3	31322713	1.000000	0.71417	0.999000	0.59377	0.730000	0.41778	2.611000	0.46334	2.340000	0.79590	0.655000	0.94253	CCA		0.512	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			33	177	0	0	0	1	0	33	177					A	32992713	G	A	32992713	3	1	79	1	0	0	0	0	1	0	0	0	15494	1232	43	2	1053	2	SYN3	22	32992713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98383	32992713	18311853	20952	31269											
TIMP3	7078	broad.mit.edu	37	chr22	33255181	33255181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatcaagtcctgctaCtacctgccttgctttgtgac	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33255181C>T	ENST00000266085.6	+	5	754	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	151	Mediates interaction with EFEMP1.				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						AGTCCTGCTACTACCTGCCTT	0.532																																						ENST00000266085.6																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(451-453)taC>taT		TIMP metallopeptidase inhibitor 3							132	117	122					22																	33255181		2203	4300	6503	SO:0001819	synonymous_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255181C>T		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.453C>T	22.37:g.33255181C>T						SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	p.Y151Y	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN			5	754	+			151			Mediates interaction with EFEMP1.		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	ENST00000266085.6	37	c.453C>T	CCDS13911.1																																																																																				0.532	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		68	374	0	0	0	1	0	68	374					T	33255181	C	T	33255181	2	4	79	1	0	0	0	0	0	0	0	1	15971	576	20	2		2	TIMP3	22	33255181	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	262468	33255181	18049385	20953	31270											
SYN3	8224	broad.mit.edu	37	chr22	33265005	33265005	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtagagagagttgacagcaGgcagccctccatactgcagg	13	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33265005G>T	ENST00000358763.2	-	5	811	c.569C>A	c.(568-570)cCt>cAt	p.P190H	SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGACAGCAGGCAGCCCTCC	0.607																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(568-570)cCt>cAt		synapsin III							71	56	61					22																	33265005		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33265005G>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.569C>A	22.37:g.33265005G>T	ENSP00000351614:p.Pro190His					SYN3_ENST00000332840.5_Missense_Mutation_p.P190H	p.P190H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			5	811	-			190			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.569C>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319821	0.60634	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.44083	0.93;0.93	5.87	5.87	0.94306	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.067659	0.64402	D	0.000014	T	0.42268	0.1195	M	0.70275	2.135	0.80722	D	1	P;B;P	0.44260	0.83;0.434;0.83	B;B;B	0.34536	0.185;0.131;0.185	T	0.51356	-0.8716	10	0.72032	D	0.01	-3.5917	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	189;190;190	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	190	ENSP00000351614:P190H;ENSP00000330219:P190H	ENSP00000330219:P190H	P	-	2	0	SYN3	31595005	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	CCT		0.607	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			27	152	1	0	1.39806e-14	1	1.52044e-14	27	152					T	33265005	G	T	33265005	3	4	79	1	0	0	0	0	1	0	0	0	15494	1000	35	3	1213	3	SYN3	22	33265005	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9824	33265005	18039561	20954	31271											
SYN3	8224	broad.mit.edu	37	chr22	33402568	33402568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggtggagctatctgggCgttgcaggtccgtcatatag	15	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33402568C>T	ENST00000358763.2	-	2	322	c.80G>A	c.(79-81)cGc>cAc	p.R27H	SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	27	A.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTATCTGGGCGTTGCAGGTC	0.592																																						ENST00000358763.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(79-81)cGc>cAc		synapsin III							105	110	108					22																	33402568		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33402568C>T	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.80G>A	22.37:g.33402568C>T	ENSP00000351614:p.Arg27His					SYN3_ENST00000332840.5_Missense_Mutation_p.R27H	p.R27H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN			2	322	-			27			A.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.80G>A	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620197	0.66787	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686;ENST00000441821;ENST00000412575	T;T	0.39229	1.09;1.09	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	T	0.63450	0.2512	M	0.62723	1.935	0.47547	D	0.999454	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73380	0.98;0.971;0.98	T	0.65932	-0.6048	10	0.66056	D	0.02	-4.6075	18.8654	0.92290	0.0:1.0:0.0:0.0	.	27;27;27	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	H	27	ENSP00000351614:R27H;ENSP00000330219:R27H	ENSP00000330219:R27H	R	-	2	0	SYN3	31732568	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.908000	0.69916	2.509000	0.84616	0.557000	0.71058	CGC		0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			114	579	0	0	0	1	0	114	579					T	33402568	C	T	33402568	3	4	79	1	0	0	0	0	1	0	0	0	15494	768	27	1	1714	1	SYN3	22	33402568	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	137563	33402568	17901998	20955	31272											
LARGE	9215	broad.mit.edu	37	chr22	33960892	33960892	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagtggcaaaggtgatatcCgtgtcaaggacgatgactct	12	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33960892C>T	ENST00000354992.2	-	7	1300	c.729G>A	c.(727-729)acG>acA	p.T243T	LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000397394.2_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	243					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)				AGGTGATATCCGTGTCAAGGA	0.478																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(727-729)acG>acA		like-glycosyltransferase							144	124	131					22																	33960892		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33960892C>T	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.729G>A	22.37:g.33960892C>T						LARGE_ENST00000402320.1_Silent_p.T243T|LARGE_ENST00000337431.2_Silent_p.T243T|LARGE_ENST00000437602.2_Silent_p.T243T|LARGE_ENST00000452586.2_Silent_p.T42T|LARGE_ENST00000397394.2_Silent_p.T243T	p.T243T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			7	1300	-		Lung NSC(1;0.219)	243					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.729G>A	CCDS13912.1																																																																																				0.478	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		76	341	0	0	0	1	0	76	341					T	33960892	C	T	33960892	2	4	79	1	0	0	0	0	0	0	0	1	8658	639	23	1		1	LARGE	22	33960892	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	558324	33960892	17343674	20956	31273											
ISX	91464	broad.mit.edu	37	chr22	35478605	35478605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttacccactacccagaCgttcacatccgcagccagct	5	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35478605C>T	ENST00000308700.6	+	2	1276	c.324C>T	c.(322-324)gaC>gaT	p.D108D	ISX_ENST00000404699.2_Silent_p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	108					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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						ACTACCCAGACGTTCACATCC	0.587																																						ENST00000308700.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						c.(322-324)gaC>gaT		intestine-specific homeobox							119	99	105					22																	35478605		2203	4300	6503	SO:0001819	synonymous_variant	91464					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:35478605C>T	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.324C>T	22.37:g.35478605C>T						ISX_ENST00000404699.2_Silent_p.D108D	p.D108D	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN			2	1276	+			108					Q68DJ5	Silent	SNP	ENST00000308700.6	37	c.324C>T	CCDS33640.1																																																																																				0.587	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	NM_001008494		62	327	0	0	0	1	0	62	327					T	35478605	C	T	35478605	2	4	79	1	0	0	0	0	0	0	0	1	7895	535	19	1		1	ISX	22	35478605	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1517713	35478605	15825961	20957	31274											
HMGXB4	10042	broad.mit.edu	37	chr22	35680005	35680005	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttctgtaaagagtatcgCgtgaccattgtggctgacca	12	8	1	3	rs200603781		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35680005C>T	ENST00000216106.5	+	6	1394	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	HMGXB4_ENST00000444518.2_Silent_p.R313R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	422					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGTATCGCGTGACCATTG	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16347	0.0		0.0	False		,,,				2504	0.0					ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1264-1266)cgC>cgT		HMG box domain containing 4							188	157	168					22																	35680005		2203	4300	6503	SO:0001819	synonymous_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35680005C>T	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1266C>T	22.37:g.35680005C>T						HMGXB4_ENST00000444518.2_Silent_p.R313R	p.R422R	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			6	1394	+			422					O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	c.1266C>T	CCDS33641.1																																																																																				0.423	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		66	292	0	0	0	1	0	66	292					T	35680005	C	T	35680005	2	4	79	1	0	0	0	0	0	0	0	1	7269	755	27	1		1	HMGXB4	22	35680005	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	201400	35680005	15624561	20958	31275											
MCM5	4174	broad.mit.edu	37	chr22	35808506	35808506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttgcctaccaaggccGcagctttgctggggccgtga	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35808506G>A	ENST00000216122.4	+	8	1077	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.R265H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	308					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACCAAGGCCGCAGCTTTGCT	0.632																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(922-924)cGc>cAc		minichromosome maintenance complex component 5							67	70	69					22																	35808506		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35808506G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.923G>A	22.37:g.35808506G>A	ENSP00000216122:p.Arg308His					MCM5_ENST00000382011.5_Missense_Mutation_p.R265H|MCM5_ENST00000465557.1_3'UTR	p.R308H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			8	1077	+			308					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.923G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555671	0.45487	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.03801	4.13;3.8	5.62	4.6	0.57074	.	0.097141	0.64402	D	0.000001	T	0.10423	0.0255	M	0.86028	2.79	0.58432	D	0.999992	B;B;B;B	0.13594	0.008;0.008;0.008;0.008	B;B;B;B	0.12837	0.008;0.008;0.008;0.008	T	0.01545	-1.1328	10	0.56958	D	0.05	-25.5116	11.3088	0.49351	0.1579:0.0:0.8421:0.0	.	308;308;265;308	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	H	308;265;217	ENSP00000216122:R308H;ENSP00000371441:R265H	ENSP00000216122:R308H	R	+	2	0	MCM5	34138506	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	5.437000	0.66544	1.383000	0.46405	-0.258000	0.10820	CGC		0.632	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			135	501	0	0	0	1	0	135	501					A	35808506	G	A	35808506	3	1	79	1	0	0	0	0	1	0	0	0	9431	1087	38	1	949	1	MCM5	22	35808506	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	128501	35808506	15496060	20959	31276											
RASD2	23551	broad.mit.edu	37	chr22	35947670	35947670	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaagaccaaggaggcggCggagctgcccatggtcatct	14	11	2	1	rs372988119		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35947670C>T	ENST00000216127.4	+	3	1034	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	131					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AAGGAGGCGGCGGAGCTGCCC	0.622																																						ENST00000216127.4																			0				endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						c.(391-393)gCg>gTg		RASD family, member 2		C	VAL/ALA	0,4406		0,0,2203	75	68	70		392	3.6	0.6	22		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	RASD2	NM_014310.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	131/267	35947670	1,13005	2203	4300	6503	SO:0001583	missense	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947670C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"tumor endothelial marker 2", "Ras homolog enriched in striatum"	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.392C>T	22.37:g.35947670C>T	ENSP00000216127:p.Ala131Val						p.A131V	NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN			3	1034	+			131					O95520|Q5THY8	Missense_Mutation	SNP	ENST00000216127.4	37	c.392C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921724	0.17982	0.0	1.16E-4	ENSG00000100302	ENST00000216127	T	0.77358	-1.09	5.72	3.6	0.41247	Small GTP-binding protein domain (1);	0.291299	0.39083	N	0.001465	T	0.58821	0.2149	N	0.04162	-0.26	0.32629	N	0.522231	B	0.12630	0.006	B	0.13407	0.009	T	0.56062	-0.8041	10	0.27082	T	0.32	.	16.9288	0.86184	0.0:0.5053:0.4947:0.0	.	131	Q96D21	RHES_HUMAN	V	131	ENSP00000216127:A131V	ENSP00000216127:A131V	A	+	2	0	RASD2	34277616	0.844000	0.29557	0.620000	0.29132	0.949000	0.60115	1.492000	0.35594	0.746000	0.32786	0.561000	0.74099	GCG		0.622	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		33	349	0	0	0	1	0	33	349					T	35947670	C	T	35947670	3	4	79	1	0	0	0	0	1	0	0	0	13117	768	27	1	398	1	RASD2	22	35947670	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	139164	35947670	15356896	20960	31277											
APOL5	80831	broad.mit.edu	37	chr22	36124810	36124810	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcctgttgtggagcaccaGcctaggctgggccctggcgt	16	12	0	0	rs142361344	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36124810G>A	ENST00000249044.2	+	4	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	389					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						TGGAGCACCAGCCTAGGCTGG	0.602																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(1165-1167)caG>caA		apolipoprotein L, 5							70	67	68					22																	36124810		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124810G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1167G>A	22.37:g.36124810G>A							p.Q389Q	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			4	1167	+			389					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.1167G>A	CCDS13920.1																																																																																				0.602	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		67	380	0	0	0	1	0	67	380					A	36124810	G	A	36124810	2	1	79	1	0	0	0	0	0	0	0	1	809	962	34	2		2	APOL5	22	36124810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	177140	36124810	15179756	20961	31278											
APOL3	80833	broad.mit.edu	37	chr22	36537445	36537445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggtcgcactcaggatccGggctcctctgctcactgccc	11	16	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36537445G>A	ENST00000349314.2	-	3	1049	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	APOL3_ENST00000361710.2_Missense_Mutation_p.R138W|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000424878.2_Missense_Mutation_p.R138W	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	338					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)	p.R338W(1)|p.R267W(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTCAGGATCCGGGCTCCTCTG	0.577																																						ENST00000424878.2																			2	Substitution - Missense(2)	p.R338W(1)|p.R267W(1)	endometrium(2)	endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						c.(412-414)Cgg>Tgg		apolipoprotein L, 3							67	60	62					22																	36537445		2203	4300	6503	SO:0001583	missense	80833				inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	g.chr22:36537445G>A	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.1012C>T	22.37:g.36537445G>A	ENSP00000344577:p.Arg338Trp					APOL3_ENST00000361710.2_Missense_Mutation_p.R138W|APOL3_ENST00000397293.2_Missense_Mutation_p.R267W|APOL3_ENST00000397287.2_Missense_Mutation_p.R138W|APOL3_ENST00000349314.2_Missense_Mutation_p.R338W	p.R138W			O95236	APOL3_HUMAN			4	2560	-			338					B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	ENST00000349314.2	37	c.412C>T	CCDS13922.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.275184	0.59649	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.04317	3.65;3.65;3.65;3.65;3.65	4.08	0.374	0.16183	.	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	M	0.76170	2.325	0.28874	N	0.894763	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.01273	-1.1399	10	0.62326	D	0.03	.	6.8323	0.23917	0.0:0.1585:0.3732:0.4682	.	338;267	O95236;O95236-2	APOL3_HUMAN;.	W	267;138;338;138;138	ENSP00000380461:R267W;ENSP00000415779:R138W;ENSP00000344577:R338W;ENSP00000355164:R138W;ENSP00000380456:R138W	ENSP00000344577:R338W	R	-	1	2	APOL3	34867391	0.252000	0.23972	0.355000	0.25773	0.011000	0.07611	0.390000	0.20768	0.464000	0.27142	0.478000	0.44815	CGG		0.577	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319268.1	NM_145641		62	294	0	0	0	1	0	62	294					A	36537445	G	A	36537445	3	1	79	1	0	0	0	0	1	0	0	0	807	1115	39	1	200	1	APOL3	22	36537445	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412635	36537445	14767121	20962	31279											
APOL2	23780	broad.mit.edu	37	chr22	36623483	36623483	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctggctgcagcatctcatgGatcttggtgagaaagttgag	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36623483G>T	ENST00000249066.6	-	6	1457	c.981C>A	c.(979-981)atC>atA	p.I327I	APOL2_ENST00000451256.2_Silent_p.I439I|APOL2_ENST00000358502.5_Silent_p.I327I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	327					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCATCTCATGGATCTTGGTGA	0.557																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(979-981)atC>atA		apolipoprotein L, 2							64	71	69					22																	36623483		2196	4296	6492	SO:0001819	synonymous_variant	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36623483G>T	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"Apolipoproteins"	619	protein-coding gene	gene with protein product	"apolipoprotein L-II"	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.981C>A	22.37:g.36623483G>T						APOL2_ENST00000358502.5_Silent_p.I327I|APOL2_ENST00000451256.2_Silent_p.I439I	p.I327I	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	1457	-			327					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Silent	SNP	ENST00000249066.6	37	c.981C>A	CCDS43014.1																																																																																				0.557	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		91	436	1	0	1.13884e-41	1	1.38436e-41	91	436					T	36623483	G	T	36623483	2	4	79	1	0	0	0	0	0	0	0	1	806	1164	41	3		3	APOL2	22	36623483	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	86038	36623483	14681083	20963	31280											
APOL2	23780	broad.mit.edu	37	chr22	36624001	36624001	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacagcagctgctgctcccaGacccatgccagtgtccaaga	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36624001G>T	ENST00000249066.6	-	6	939	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	APOL2_ENST00000451256.2_Missense_Mutation_p.L267M|APOL2_ENST00000358502.5_Missense_Mutation_p.L155M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	155					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTGCTCCCAGACCCATGCCA	0.572																																						ENST00000249066.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						c.(463-465)Ctg>Atg		apolipoprotein L, 2							43	50	48					22																	36624001		2180	4271	6451	SO:0001583	missense	23780				acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding	g.chr22:36624001G>T	AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"Apolipoproteins"	619	protein-coding gene	gene with protein product	"apolipoprotein L-II"	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.463C>A	22.37:g.36624001G>T	ENSP00000249066:p.Leu155Met					APOL2_ENST00000358502.5_Missense_Mutation_p.L155M|APOL2_ENST00000451256.2_Missense_Mutation_p.L267M	p.L155M	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN			6	939	-			155					B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	ENST00000249066.6	37	c.463C>A	CCDS43014.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340718	0.24339	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.08807	3.05;3.05;3.05	3.66	-0.134	0.13481	.	0.149389	0.44688	D	0.000421	T	0.09992	0.0245	M	0.77486	2.375	0.09310	N	1	P;P	0.36412	0.463;0.552	B;B	0.38428	0.212;0.273	T	0.13072	-1.0523	10	0.54805	T	0.06	.	3.0361	0.06122	0.2466:0.0:0.5428:0.2106	.	267;155	B4E1T5;Q9BQE5	.;APOL2_HUMAN	M	155;155;267	ENSP00000351292:L155M;ENSP00000249066:L155M;ENSP00000403153:L267M	ENSP00000249066:L155M	L	-	1	2	APOL2	34953947	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	-0.260000	0.08708	0.318000	0.23185	0.411000	0.27672	CTG		0.572	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319279.1	NM_145637		15	259	1	0	2.31682e-05	1	2.36778e-05	15	259					T	36624001	G	T	36624001	3	4	79	1	0	0	0	0	1	0	0	0	806	933	33	3	554	3	APOL2	22	36624001	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	518	36624001	14680565	20964	31281											
APOL1	8542	broad.mit.edu	37	chr22	36651007	36651007	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggccctgcagcgacatggaGggagctgctttgctgagagt	16	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36651007G>T	ENST00000397278.3	+	2	235	c.6G>T	c.(4-6)gaG>gaT	p.E2D	APOL1_ENST00000347595.7_Intron|APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D|APOL1_ENST00000319136.4_Missense_Mutation_p.E18D|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	2					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						GCGACATGGAGGGAGCTGCTT	0.542																																						ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(52-54)gaG>gaT		apolipoprotein L, 1							72	68	70					22																	36651007		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36651007G>T	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.6G>T	22.37:g.36651007G>T	ENSP00000380448:p.Glu2Asp					APOL1_ENST00000422706.1_Missense_Mutation_p.E2D|APOL1_ENST00000397278.3_Missense_Mutation_p.E2D|APOL1_ENST00000440669.2_Missense_Mutation_p.E2D|APOL1_ENST00000347595.7_Intron|APOL1_ENST00000426053.1_Missense_Mutation_p.E2D|APOL1_ENST00000397279.4_Missense_Mutation_p.E2D	p.E18D	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			3	321	+			2					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.54G>T	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	g	12.20	1.865132	0.32977	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000438034;ENST00000427990;ENST00000397279;ENST00000433768;ENST00000440669	T;T;T;T;T;T	0.22945	3.53;3.53;3.17;3.48;1.93;3.53	1.83	0.579	0.17397	.	416.553000	0.01513	U	0.018039	T	0.22627	0.0546	N	0.19112	0.55	0.18873	N	0.999982	D;D;D	0.64830	0.989;0.989;0.994	P;B;P	0.49226	0.496;0.399;0.603	T	0.09400	-1.0676	10	0.56958	D	0.05	.	3.2446	0.06793	0.4761:0.0:0.5239:0.0	.	2;2;18	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	2;2;2;18;31;2;2;2;2	ENSP00000380448:E2D;ENSP00000411507:E2D;ENSP00000388477:E2D;ENSP00000317674:E18D;ENSP00000391302:E2D;ENSP00000380449:E2D	ENSP00000317674:E18D	E	+	3	2	APOL1	34980953	0.004000	0.15560	0.009000	0.14445	0.224000	0.24922	-0.005000	0.12855	0.149000	0.19098	0.184000	0.17185	GAG		0.542	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		41	298	1	0	1.7489e-18	1	1.94175e-18	41	298					T	36651007	G	T	36651007	3	4	79	1	0	0	0	0	1	0	0	0	805	991	35	3	60	3	APOL1	22	36651007	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27006	36651007	14653559	20965	31282											
APOL1	8542	broad.mit.edu	37	chr22	36661223	36661223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcagatgagctccgtaaagCtctggacaaccttgcaagac	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36661223C>A	ENST00000397278.3	+	6	570	c.341C>A	c.(340-342)gCt>gAt	p.A114D	APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D|APOL1_ENST00000319136.4_Missense_Mutation_p.A130D|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	114					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						CTCCGTAAAGCTCTGGACAAC	0.458																																						ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(388-390)gCt>gAt		apolipoprotein L, 1							77	72	74					22																	36661223		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661223C>A	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.341C>A	22.37:g.36661223C>A	ENSP00000380448:p.Ala114Asp					APOL1_ENST00000422706.1_Missense_Mutation_p.A114D|APOL1_ENST00000397278.3_Missense_Mutation_p.A114D|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.A96D|APOL1_ENST00000397279.4_Missense_Mutation_p.A114D	p.A130D	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			7	656	+			114					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.389C>A	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	c	11.47	1.648028	0.29336	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000427990;ENST00000397279	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	2.52	-4.21	0.03812	.	1.106010	0.06755	N	0.780721	T	0.13628	0.0330	M	0.75615	2.305	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.998;0.997	T	0.26467	-1.0102	10	0.54805	T	0.06	.	0.0452	0.00010	0.2944:0.2396:0.1985:0.2676	.	96;114;130	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	D	114;114;96;130;114;114	ENSP00000380448:A114D;ENSP00000411507:A114D;ENSP00000388477:A96D;ENSP00000317674:A130D;ENSP00000391302:A114D;ENSP00000380449:A114D	ENSP00000317674:A130D	A	+	2	0	APOL1	34991169	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.397000	0.07269	-0.899000	0.03901	0.194000	0.17425	GCT		0.458	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		68	314	1	0	7.33394e-39	1	8.85091e-39	68	314					A	36661223	C	A	36661223	3	1	79	1	0	0	0	0	1	0	0	0	805	797	28	3	411	3	APOL1	22	36661223	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10216	36661223	14643343	20966	31283											
MYH9	4627	broad.mit.edu	37	chr22	36691608	36691608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaactctgttttcagaGcctctagctcttccccaagg	6	16	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36691608G>A	ENST00000216181.5	-	26	3658	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1143					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGTTTTCAGAGCCTCTAGCTC	0.572			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(3427-3429)gCt>gTt		myosin, heavy chain 9, non-muscle							89	77	81					22																	36691608		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36691608G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3428C>T	22.37:g.36691608G>A	ENSP00000216181:p.Ala1143Val						p.A1143V	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			26	3658	-			1143					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.3428C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674146	0.88445	.	.	ENSG00000100345	ENST00000216181	T	0.79247	-1.25	4.56	4.56	0.56223	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	M	0.89785	3.06	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	D	0.92210	0.5775	10	0.72032	D	0.01	.	17.6926	0.88272	0.0:0.0:1.0:0.0	.	1143	P35579	MYH9_HUMAN	V	1143	ENSP00000216181:A1143V	ENSP00000216181:A1143V	A	-	2	0	MYH9	35021554	1.000000	0.71417	0.952000	0.39060	0.530000	0.34684	9.813000	0.99286	2.261000	0.74972	0.561000	0.74099	GCT		0.572	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		9	244	0	0	0	1	0	9	244					A	36691608	G	A	36691608	3	1	79	1	0	0	0	0	1	0	0	0	10083	971	34	2	2518	2	MYH9	22	36691608	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	30385	36691608	14612958	20967	31284											
MYH9	4627	broad.mit.edu	37	chr22	36705431	36705431	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagccactcgtcagctTtgtaatccacctggcggggt	10	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36705431T>G	ENST00000216181.5	-	15	1969	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	580	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCGTCAGCTTTGTAATCCAC	0.567			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1738-1740)aAa>aCa		myosin, heavy chain 9, non-muscle							156	123	134					22																	36705431		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36705431T>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1739A>C	22.37:g.36705431T>G	ENSP00000216181:p.Lys580Thr						p.K580T	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			15	1969	-			580			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1739A>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967794	0.74131	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.71341	-0.56	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	N	0.17278	0.47	0.80722	D	1	B	0.29115	0.233	B	0.37267	0.245	T	0.65344	-0.6191	10	0.87932	D	0	.	14.1891	0.65625	0.0:0.0:0.0:1.0	.	580	P35579	MYH9_HUMAN	T	444;580	ENSP00000216181:K580T	ENSP00000216181:K580T	K	-	2	0	MYH9	35035377	1.000000	0.71417	0.984000	0.44739	0.765000	0.43378	8.023000	0.88764	1.904000	0.55121	0.460000	0.39030	AAA		0.567	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		21	221	0	0	0	1	0	21	221					G	36705431	T	G	36705431	3	3	79	1	0	0	0	0	1	0	0	0	10083	1841	64	4	4251	4	MYH9	22	36705431	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13823	36705431	14599135	20968	31285											
EIF3D	8664	broad.mit.edu	37	chr22	36912757	36912757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagaggtgacctaccggtaCgcaacagaggcgatttcatt	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36912757C>T	ENST00000216190.8	-	11	1441	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	EIF3D_ENST00000405442.1_Silent_p.A357A|EIF3D_ENST00000541106.1_Silent_p.A308A	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						CCTACCGGTACGCAACAGAGG	0.507																																						ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(1069-1071)gcG>gcA		eukaryotic translation initiation factor 3, subunit D							212	192	199					22																	36912757		2203	4300	6503	SO:0001819	synonymous_variant	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36912757C>T	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.1071G>A	22.37:g.36912757C>T						EIF3D_ENST00000405442.1_Silent_p.A357A|EIF3D_ENST00000541106.1_Silent_p.A308A	p.A357A	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			11	1441	-			357						Silent	SNP	ENST00000216190.8	37	c.1071G>A	CCDS13930.1																																																																																				0.507	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			157	696	0	0	0	1	0	157	696					T	36912757	C	T	36912757	2	4	79	1	0	0	0	0	0	0	0	1	5032	523	19	1		1	EIF3D	22	36912757	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	207326	36912757	14391809	20969	31286											
CSF2RB	1439	broad.mit.edu	37	chr22	37331398	37331398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggctgctggaagtgctgCctatgtgggtgctggccctc	15	13	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37331398C>T	ENST00000403662.3	+	11	1543	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S|CSF2RB_ENST00000262825.5_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	441					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)	GGAAGTGCTGCCTATGTGGGT	0.592																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1339-1341)Cct>Tct		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						140	105	117					22																	37331398		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37331398C>T	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.1321C>T	22.37:g.37331398C>T	ENSP00000384053:p.Pro441Ser					CSF2RB_ENST00000406230.1_Missense_Mutation_p.P447S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.P388S|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P441S	p.P447S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			11	1556	+			441					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.1339C>T	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195812	0.38806	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92299	-2.5;-2.99;-2.99;-3.01	5.04	4.02	0.46733	.	0.223957	0.23002	N	0.053071	D	0.87597	0.6217	L	0.39566	1.225	0.41067	D	0.985429	B;P	0.47604	0.063;0.898	B;B	0.43575	0.061;0.424	D	0.84699	0.0727	10	0.27082	T	0.32	-19.3553	10.1041	0.42521	0.0:0.9056:0.0:0.0944	.	447;441	P32927-2;P32927	.;IL3RB_HUMAN	S	441;441;447;447;388	ENSP00000384053:P441S;ENSP00000262825:P447S;ENSP00000385271:P447S;ENSP00000440003:P388S	ENSP00000262825:P447S	P	+	1	0	CSF2RB	35661344	0.980000	0.34600	0.827000	0.32855	0.007000	0.05969	1.366000	0.34193	1.448000	0.47680	0.555000	0.69702	CCT		0.592	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		5	209	0	0	0	1	0	5	209					T	37331398	C	T	37331398	3	4	79	1	0	0	0	0	1	0	0	0	3946	739	26	2	1359	2	CSF2RB	22	37331398	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	418641	37331398	13973168	20970	31287											
CSF2RB	1439	broad.mit.edu	37	chr22	37334204	37334204	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaaggaacaatcctgTcccccctgaggccaaaagcc	8	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37334204T>C	ENST00000403662.3	+	14	2576	c.2354T>C	c.(2353-2355)gTc>gCc	p.V785A	CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A|CSF2RB_ENST00000262825.5_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	785					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACAATCCTGTCCCCCCTGAG	0.642																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(2371-2373)gTc>gCc		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						52	51	51					22																	37334204		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37334204T>C	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2354T>C	22.37:g.37334204T>C	ENSP00000384053:p.Val785Ala					CSF2RB_ENST00000406230.1_Missense_Mutation_p.V791A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V732A|CSF2RB_ENST00000403662.3_Missense_Mutation_p.V785A	p.V791A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	2589	+			785					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.2372T>C	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	T	0.386	-0.925985	0.02377	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.90788	-2.22;-2.73;-2.73;-2.73	5.38	-1.52	0.08637	.	0.614872	0.14560	N	0.312136	T	0.63628	0.2527	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.004	T	0.61549	-0.7040	10	0.07030	T	0.85	-8.6352	2.1121	0.03705	0.1292:0.458:0.1419:0.2708	.	791;785	P32927-2;P32927	.;IL3RB_HUMAN	A	785;785;791;791;732	ENSP00000384053:V785A;ENSP00000262825:V791A;ENSP00000385271:V791A;ENSP00000440003:V732A	ENSP00000262825:V791A	V	+	2	0	CSF2RB	35664150	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.161000	0.10026	-0.019000	0.14055	-0.375000	0.07067	GTC		0.642	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		77	340	0	0	0	1	0	77	340					C	37334204	T	C	37334204	3	2	79	1	0	0	0	0	1	0	0	0	3946	1667	58	4	2404	4	CSF2RB	22	37334204	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2806	37334204	13970362	20971	31288											
C22orf33	339669	broad.mit.edu	37	chr22	37387247	37387247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggagctcttggatttgctGttttctccatatttctcttc	7	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37387247G>A	ENST00000405091.2	-	7	1067	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEX33_ENST00000381821.1_Silent_p.N272N|TEX33_ENST00000402860.3_Silent_p.N187N			O43247	TEX33_HUMAN	testis expressed 33	272																	TGGATTTGCTGTTTTCTCCAT	0.463																																						ENST00000405091.2																			0											c.(814-816)aaC>aaT		testis expressed 33							188	180	182					22																	37387247		2203	4300	6503	SO:0001819	synonymous_variant	339669							g.chr22:37387247G>A	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 33"	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.816C>T	22.37:g.37387247G>A						TEX33_ENST00000381821.1_Silent_p.N272N|TEX33_ENST00000402860.3_Silent_p.N187N	p.N272N			O43247	EAN57_HUMAN			7	1067	-			272					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Silent	SNP	ENST00000405091.2	37	c.816C>T	CCDS54524.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409488	0.01155	.	.	ENSG00000185264	ENST00000442538	.	.	.	4.96	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.20764	N	0.999852	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6234	3.4282	0.07418	0.1685:0.5559:0.1795:0.0961	.	.	.	.	X	131	.	.	Q	-	1	0	C22orf33	35717193	0.197000	0.23362	0.263000	0.24496	0.044000	0.14063	0.733000	0.26087	0.199000	0.20427	-0.344000	0.07964	CAG		0.463	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		70	299	0	0	0	1	0	70	299					A	37387247	G	A	37387247	2	1	79	1	0	0	0	0	0	0	0	1	2152	1368	48	2		2	C22orf33	22	37387247	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53043	37387247	13917319	20972	31289											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462993	37462993	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccactttctgcagagcgttgCtgatggggcctgtccgtggt	14	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37462993C>A	ENST00000346753.3	-	17	2266	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.S730I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	717	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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						CAGAGCGTTGCTGATGGGGCC	0.562																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(2188-2190)aGc>aTc		transmembrane protease, serine 6							104	77	86					22																	37462993		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37462993C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2150G>T	22.37:g.37462993C>A	ENSP00000334962:p.Ser717Ile					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.S708I|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.S730I|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.S717I	p.S730I			Q8IU80	TMPS6_HUMAN			18	2329	-			717			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.2189G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647772	0.67358	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.85777	2.775	0.47123	D	0.999323	D;D	0.76494	0.998;0.999	D;D	0.77557	0.952;0.99	D	0.96516	0.9382	10	0.87932	D	0	.	18.1606	0.89707	0.0:1.0:0.0:0.0	.	730;717	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	I	730;717;708;730	ENSP00000371211:S730I;ENSP00000334962:S717I;ENSP00000385453:S708I;ENSP00000384964:S730I	ENSP00000334962:S717I	S	-	2	0	TMPRSS6	35792939	1.000000	0.71417	0.995000	0.50966	0.539000	0.34962	3.654000	0.54453	2.267000	0.75376	0.591000	0.81541	AGC		0.562	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		39	187	1	0	6.2361e-21	1	7.00342e-21	39	187					A	37462993	C	A	37462993	3	1	79	1	0	0	0	0	1	0	0	0	16303	797	28	3	293	3	TMPRSS6	22	37462993	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75746	37462993	13841573	20973	31290											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499282	37499282	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataccagagtagcacccccGccgaagccagcacgagcagg	11	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37499282G>A	ENST00000346753.3	-	2	319	c.203C>T	c.(202-204)gCg>gTg	p.A68V	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.A59V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	68					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						TAGCACCCCCGCCGAAGCCAG	0.627																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(175-177)gCg>gTg		transmembrane protease, serine 6							49	50	50					22																	37499282		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499282G>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.203C>T	22.37:g.37499282G>A	ENSP00000334962:p.Ala68Val					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A68V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A59V|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A68V	p.A59V			Q8IU80	TMPS6_HUMAN			2	316	-			68					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.176C>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776603	0.00640	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.91740	-2.9;-2.9;-2.9;-2.9;-0.88;-2.44	4.39	-3.81	0.04294	.	0.568873	0.16744	N	0.201301	T	0.76371	0.3978	N	0.14661	0.345	0.09310	N	0.999992	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.0	T	0.66822	-0.5826	10	0.05620	T	0.96	.	6.138	0.20243	0.2238:0.3691:0.4071:0.0	.	68;59;68	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	59;68;59;59;68;59	ENSP00000371211:A59V;ENSP00000334962:A68V;ENSP00000385453:A59V;ENSP00000384964:A59V;ENSP00000397691:A68V;ENSP00000400317:A59V	ENSP00000334962:A68V	A	-	2	0	TMPRSS6	35829228	0.412000	0.25392	0.426000	0.26672	0.059000	0.15707	0.133000	0.15912	-0.296000	0.08947	-0.362000	0.07510	GCG		0.627	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		81	297	0	0	0	1	0	81	297					A	37499282	G	A	37499282	3	1	79	1	0	0	0	0	1	0	0	0	16303	1087	38	1	2300	1	TMPRSS6	22	37499282	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	36289	37499282	13805284	20974	31291											
IL2RB	3560	broad.mit.edu	37	chr22	37524621	37524621	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggccacaccctcatcagggtCttcctctgagtaggggtcgt	12	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37524621C>T	ENST00000216223.5	-	10	1369	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	391			D -> E (in dbSNP:rs228942). {ECO:0000269|Ref.3}.		cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCATCAGGGTCTTCCTCTGAG	0.607																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1171-1173)Gac>Aac		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						59	60	59					22																	37524621		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524621C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1171G>A	22.37:g.37524621C>T	ENSP00000216223:p.Asp391Asn						p.D391N	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1369	-			391		D -> E (in dbSNP:rs228942).			B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.1171G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023888	0.54683	.	.	ENSG00000100385	ENST00000216223	T	0.08546	3.08	4.28	4.28	0.50868	.	1.830200	0.02534	N	0.093949	T	0.08358	0.0208	N	0.14661	0.345	0.23095	N	0.998308	B	0.24721	0.11	B	0.24848	0.056	T	0.29549	-1.0008	10	0.25751	T	0.34	-6.2193	14.3549	0.66730	0.0:1.0:0.0:0.0	.	391	P14784	IL2RB_HUMAN	N	391	ENSP00000216223:D391N	ENSP00000216223:D391N	D	-	1	0	IL2RB	35854567	0.819000	0.29175	0.385000	0.26158	0.003000	0.03518	1.468000	0.35332	2.349000	0.79799	0.655000	0.94253	GAC		0.607	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			82	283	0	0	0	1	0	82	283					T	37524621	C	T	37524621	3	4	79	1	0	0	0	0	1	0	0	0	7717	913	32	2	488	2	IL2RB	22	37524621	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	25339	37524621	13779945	20975	31292											
IL2RB	3560	broad.mit.edu	37	chr22	37531435	37531435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccaaaagccccgctgaGgcccacgaggaggtggccga	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37531435G>A	ENST00000216223.5	-	8	949	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	AL022314.1_ENST00000516333.1_RNA	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	251					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCGCTGAGGCCCACGAGG	0.582																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(751-753)Ctc>Ttc		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						108	107	108					22																	37531435		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37531435G>A	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"Interleukins and interleukin receptors", "CD molecules"	6009	protein-coding gene	gene with protein product		146710	"interleukin 15 receptor, beta"	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.751C>T	22.37:g.37531435G>A	ENSP00000216223:p.Leu251Phe						p.L251F	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			8	949	-			251					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.751C>T	CCDS13942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420112|2.420112	0.42918|0.42918	.|.	.|.	ENSG00000100385|ENSG00000100385	ENST00000216223|ENST00000447922	D|.	0.97303|.	-4.33|.	3.75|3.75	-1.56|-1.56	0.08532|0.08532	.|.	2.483920|.	0.01435|.	N|.	0.014867|.	T|T	0.33352|0.33352	0.0860|0.0860	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D|.	0.55385|.	0.971|.	P|.	0.55055|.	0.767|.	T|T	0.32640|0.32640	-0.9899|-0.9899	10|5	0.87932|.	D|.	0|.	-11.4288|-11.4288	1.9921|1.9921	0.03448|0.03448	0.1071:0.1639:0.3579:0.3712|0.1071:0.1639:0.3579:0.3712	.|.	251|.	P14784|.	IL2RB_HUMAN|.	F|L	251|5	ENSP00000216223:L251F|.	ENSP00000216223:L251F|.	L|P	-|-	1|2	0|0	IL2RB|IL2RB	35861381|35861381	0.000000|0.000000	0.05858|0.05858	0.023000|0.023000	0.16930|0.16930	0.003000|0.003000	0.03518|0.03518	-0.235000|-0.235000	0.09016|0.09016	-0.275000|-0.275000	0.09219|0.09219	-0.311000|-0.311000	0.09066|0.09066	CTC|CCT		0.582	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			46	523	0	0	0	1	0	46	523					A	37531435	G	A	37531435	3	1	79	1	0	0	0	0	1	0	0	0	7717	1000	35	2	916	2	IL2RB	22	37531435	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6814	37531435	13773131	20976	31293											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578258	37578258	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggccttgatgaggtggccGctgaaggtgatgtaggtgtc	17	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578258G>A	ENST00000337843.2	-	3	882	c.807C>T	c.(805-807)agC>agT	p.S269S	C1QTNF6_ENST00000397110.2_Silent_p.S269S|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Silent_p.S145S|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	250					protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.S269S(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAGGTGGCCGCTGAAGGTGA	0.657																																						ENST00000337843.2																			1	Substitution - coding silent(1)	p.S269S(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(805-807)agC>agT		C1q and tumor necrosis factor related protein 6							65	60	62					22																	37578258		2203	4300	6503	SO:0001819	synonymous_variant	114904					collagen		g.chr22:37578258G>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.807C>T	22.37:g.37578258G>A						C1QTNF6_ENST00000255836.6_Silent_p.S145S|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Silent_p.S269S|C1QTNF6_ENST00000470655.1_5'UTR	p.S269S	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	882	-			250					Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	c.807C>T	CCDS13943.1																																																																																				0.657	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		44	162	0	0	0	1	0	44	162					A	37578258	G	A	37578258	2	1	79	1	0	0	0	0	0	0	0	1	1974	1078	38	1		1	C1QTNF6	22	37578258	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46823	37578258	13726308	20977	31294											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578293	37578293	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcgaagtcgttgctgtAgatggcgttctcgcgctggc	16	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578293A>G	ENST00000337843.2	-	3	847	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	239	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGTTGCTGTAGATGGCGTTC	0.642																																						ENST00000337843.2																			0				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(772-774)Tac>Cac		C1q and tumor necrosis factor related protein 6							80	71	74					22																	37578293		2203	4300	6503	SO:0001583	missense	114904					collagen		g.chr22:37578293A>G	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.772T>C	22.37:g.37578293A>G	ENSP00000338812:p.Tyr258His					C1QTNF6_ENST00000255836.6_Missense_Mutation_p.Y134H|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.Y258H|C1QTNF6_ENST00000470655.1_5'UTR	p.Y258H	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN			3	847	-			239			C1q.		Q5H9G8|Q6ZRM7	Missense_Mutation	SNP	ENST00000337843.2	37	c.772T>C	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063942	0.55432	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.94	0.65067	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.73217	2.22	0.58432	D	0.999995	D;D	0.60575	0.959;0.988	P;P	0.61722	0.749;0.893	D	0.83886	0.0282	10	0.31617	T	0.26	.	14.6139	0.68534	1.0:0.0:0.0:0.0	.	258;239	Q9BXI9-2;Q9BXI9	.;C1QT6_HUMAN	H	258;258;134	ENSP00000380299:Y258H;ENSP00000338812:Y258H;ENSP00000255836:Y134H	ENSP00000255836:Y134H	Y	-	1	0	C1QTNF6	35908239	1.000000	0.71417	0.958000	0.39756	0.141000	0.21300	9.326000	0.96389	1.855000	0.53841	0.459000	0.35465	TAC		0.642	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		46	194	0	0	0	1	0	46	194					G	37578293	A	G	37578293	3	3	79	1	0	0	0	0	1	0	0	0	1974	420	15	4	68	4	C1QTNF6	22	37578293	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	35	37578293	13726273	20978	31295											
SSTR3	6753	broad.mit.edu	37	chr22	37603573	37603573	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccagcatgaagagctcGtcggccagcgccaggttgag	14	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37603573G>A	ENST00000328544.3	-	2	803	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SSTR3_ENST00000402501.1_Silent_p.D90D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	90					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TGAAGAGCTCGTCGGCCAGCG	0.647																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(268-270)gaC>gaT		somatostatin receptor 3							73	69	71					22																	37603573		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603573G>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.270C>T	22.37:g.37603573G>A						SSTR3_ENST00000402501.1_Silent_p.D90D	p.D90D	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	803	-			90					A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.270C>T	CCDS13944.1																																																																																				0.647	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			12	508	0	0	0	1	0	12	508					A	37603573	G	A	37603573	2	1	79	1	0	0	0	0	0	0	0	1	15251	1136	40	1		1	SSTR3	22	37603573	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25280	37603573	13700993	20979	31296											
RAC2	5880	broad.mit.edu	37	chr22	37637646	37637646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacggtggggatgtactctcCgggaaaggcgttggtggtgt	18	7	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37637646C>T	ENST00000249071.6	-	2	209	c.88G>A	c.(88-90)Gga>Aga	p.G30R	RAC2_ENST00000401529.3_Missense_Mutation_p.G30R|RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000405484.1_Missense_Mutation_p.G23R	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	30					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	ATGTACTCTCCGGGAAAGGCG	0.617																																						ENST00000249071.6																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(88-90)Gga>Aga		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							189	171	177					22																	37637646		2203	4300	6503	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37637646C>T	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"Endogenous ligands"	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.88G>A	22.37:g.37637646C>T	ENSP00000249071:p.Gly30Arg					RAC2_ENST00000405484.1_Missense_Mutation_p.G23R|RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000401529.3_Missense_Mutation_p.G30R	p.G30R	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			2	209	-			30					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.88G>A	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915662	0.52546	.	.	ENSG00000128340	ENST00000249071;ENST00000405484;ENST00000441619;ENST00000401529	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.62	3.54	0.40534	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69744	0.3145	L	0.57130	1.785	0.80722	D	1	P	0.35944	0.529	B	0.35971	0.215	T	0.70539	-0.4844	10	0.87932	D	0	.	11.6402	0.51228	0.0:0.8554:0.0:0.1446	.	30	P15153	RAC2_HUMAN	R	30;23;30;30	ENSP00000249071:G30R;ENSP00000385590:G23R;ENSP00000403778:G30R;ENSP00000385666:G30R	ENSP00000249071:G30R	G	-	1	0	RAC2	35967592	1.000000	0.71417	0.577000	0.28562	0.080000	0.17528	7.548000	0.82154	0.744000	0.32741	-0.136000	0.14681	GGA		0.617	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			100	421	0	0	0	1	0	100	421					T	37637646	C	T	37637646	3	4	79	1	0	0	0	0	1	0	0	0	13025	661	23	1	510	1	RAC2	22	37637646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34073	37637646	13666920	20980	31297											
ELFN2	114794	broad.mit.edu	37	chr22	37769443	37769443	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtacagggcgggaaagCtgtgccggtgctcgctgcag	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	ENST00000402918.2	-	3	2917	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	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	711					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)					GGCGGGAAAGCTGTGCCGGTG	0.716																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(2131-2133)aGc>aAc		extracellular leucine-rich repeat and fibronectin type III domain containing 2							25	25	25					22																	37769443		2192	4297	6489	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769443C>T	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.2132G>A	22.37:g.37769443C>T	ENSP00000385277:p.Ser711Asn					ELFN2_ENST00000349653.3_Missense_Mutation_p.S711N|RP1-63G5.5_ENST00000430883.1_RNA	p.S711N	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2917	-	Melanoma(58;0.0574)		711					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.2132G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303815	0.81136	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.59772	0.24;0.24	4.93	3.88	0.44766	.	0.226336	0.47093	D	0.000245	T	0.70159	0.3192	L	0.60455	1.87	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.73139	-0.4077	10	0.87932	D	0	-38.5943	11.9074	0.52719	0.0:0.5396:0.4604:0.0	.	711	Q5R3F8	PPR29_HUMAN	N	711	ENSP00000300147:S711N;ENSP00000385277:S711N	ENSP00000300147:S711N	S	-	2	0	ELFN2	36099389	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.265000	0.75225	0.561000	0.74099	AGC		0.716	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		14	73	0	0	0	1	0	14	73					T	37769443	C	T	37769443	3	4	79	1	0	0	0	0	1	0	0	0	5076	797	28	2	334	2	ELFN2	22	37769443	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	131797	37769443	13535123	20981	31298											
ELFN2	114794	broad.mit.edu	37	chr22	37769658	37769658	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctaaagaccttggcGctcttgatggaaccactgga	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	ENST00000402918.2	-	3	2702	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	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	639					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)					AGACCTTGGCGCTCTTGATGG	0.652																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1915-1917)agC>agT		extracellular leucine-rich repeat and fibronectin type III domain containing 2							13	12	12					22																	37769658		2176	4248	6424	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37769658G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1917C>T	22.37:g.37769658G>A						ELFN2_ENST00000349653.3_Silent_p.S639S|RP1-63G5.5_ENST00000430883.1_RNA	p.S639S	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2702	-	Melanoma(58;0.0574)		639					Q96PY3	Silent	SNP	ENST00000402918.2	37	c.1917C>T	CCDS33642.1																																																																																				0.652	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		28	109	0	0	0	1	0	28	109					A	37769658	G	A	37769658	2	1	79	1	0	0	0	0	0	0	0	1	5076	1078	38	1		1	ELFN2	22	37769658	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215	37769658	13534908	20982	31299											
ELFN2	114794	broad.mit.edu	37	chr22	37771157	37771157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcggtgggcgtcaccacctCgatgaggttgtgctggacaa	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	ENST00000402918.2	-	3	1203	c.418G>A	c.(418-420)Gag>Aag	p.E140K	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	140					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)					GTCACCACCTCGATGAGGTTG	0.637																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(418-420)Gag>Aag		extracellular leucine-rich repeat and fibronectin type III domain containing 2							93	87	89					22																	37771157		2203	4300	6503	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37771157C>T	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.418G>A	22.37:g.37771157C>T	ENSP00000385277:p.Glu140Lys					ELFN2_ENST00000349653.3_Missense_Mutation_p.E140K|RP1-63G5.5_ENST00000430883.1_RNA	p.E140K	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	1203	-	Melanoma(58;0.0574)		140					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.418G>A	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197923	0.58126	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.52295	0.67;0.67	4.51	3.49	0.39957	.	0.056392	0.64402	D	0.000002	T	0.53351	0.1791	L	0.33293	1	0.58432	D	0.999997	D	0.69078	0.997	D	0.63283	0.913	T	0.56001	-0.8051	10	0.62326	D	0.03	-24.9669	12.7421	0.57259	0.0:0.9189:0.0:0.0811	.	140	Q5R3F8	PPR29_HUMAN	K	140	ENSP00000300147:E140K;ENSP00000385277:E140K	ENSP00000300147:E140K	E	-	1	0	ELFN2	36101103	1.000000	0.71417	0.996000	0.52242	0.626000	0.37791	7.709000	0.84645	1.042000	0.40150	-0.346000	0.07831	GAG		0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		117	480	0	0	0	1	0	117	480					T	37771157	C	T	37771157	3	4	79	1	0	0	0	0	1	0	0	0	5076	893	31	1	2048	1	ELFN2	22	37771157	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1499	37771157	13533409	20983	31300											
CARD10	29775	broad.mit.edu	37	chr22	37892461	37892461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaagccagacttacccttcGagtccatcagggaggggagt	12	12	1	1	rs142113268		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37892461G>A	ENST00000403299.1	-	14	2270	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_ENST00000251973.5_Missense_Mutation_p.S685L|CARD10_ENST00000406271.3_Missense_Mutation_p.S399L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	685					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)					CTTACCCTTCGAGTCCATCAG	0.637																																						ENST00000403299.1																			0				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						c.(2053-2055)tCg>tTg		caspase recruitment domain family, member 10		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	65	57	60		2054	-1.8	0	22	dbSNP_134	60	0,8600		0,0,4300	no	missense	CARD10	NM_014550.3	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	685/1033	37892461	1,13005	2203	4300	6503	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37892461G>A	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.2054C>T	22.37:g.37892461G>A	ENSP00000384570:p.Ser685Leu					CARD10_ENST00000251973.5_Missense_Mutation_p.S685L|CARD10_ENST00000406271.3_Missense_Mutation_p.S399L	p.S685L			Q9BWT7	CAR10_HUMAN			14	2270	-	Melanoma(58;0.0574)		685					Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.2054C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208596	0.09757	2.27E-4	0.0	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.39229	1.09;2.78;1.09;1.57	4.94	-1.77	0.07982	.	1.591350	0.03379	N	0.200117	T	0.22166	0.0534	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.0;0.002	T	0.07654	-1.0761	10	0.13470	T	0.59	-1.7014	2.3847	0.04363	0.1914:0.2315:0.4599:0.1172	.	685;399	Q9BWT7;Q8NC81	CAR10_HUMAN;.	L	685;399;685;326;157	ENSP00000384570:S685L;ENSP00000385799:S399L;ENSP00000251973:S685L;ENSP00000416239:S326L	ENSP00000251973:S685L	S	-	2	0	CARD10	36222407	0.000000	0.05858	0.038000	0.18304	0.719000	0.41307	-0.083000	0.11286	-0.149000	0.11215	0.561000	0.74099	TCG		0.637	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550		52	213	0	0	0	1	0	52	213					A	37892461	G	A	37892461	3	1	79	1	0	0	0	0	1	0	0	0	2651	1059	37	1	1076	1	CARD10	22	37892461	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121304	37892461	13412105	20984	31301											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962510	37962510	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgccacaccatgcatgtgGgccgtggcggggatgtcttc	14	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37962510G>A	ENST00000249014.4	+	2	574	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	52	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CATGCATGTGGGCCGTGGCGG	0.647																																						ENST00000249014.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(154-156)Ggc>Agc		CDC42 effector protein (Rho GTPase binding) 1							38	40	39					22																	37962510		2203	4300	6503	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37962510G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"55 kDa bone marrow stromal/endothelial cell protein", "serum constituent protein"	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.154G>A	22.37:g.37962510G>A	ENSP00000249014:p.Gly52Ser						p.G52S	NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN			2	574	+	Melanoma(58;0.0574)		52			CRIB.		A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.154G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690146	0.88735	.	.	ENSG00000128283	ENST00000249014;ENST00000430687;ENST00000415670	D;D;D	0.94092	-3.35;-3.35;-3.35	4.99	4.99	0.66335	PAK-box/P21-Rho-binding (3);	0.070772	0.56097	D	0.000027	D	0.96552	0.8875	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96980	0.9714	10	0.72032	D	0.01	-31.7756	18.6422	0.91399	0.0:0.0:1.0:0.0	.	52	Q00587	BORG5_HUMAN	S	52	ENSP00000249014:G52S;ENSP00000411682:G52S;ENSP00000405006:G52S	ENSP00000249014:G52S	G	+	1	0	CDC42EP1	36292456	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	7.828000	0.86729	2.465000	0.83290	0.563000	0.77884	GGC		0.647	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243		8	206	0	0	0	1	0	8	206					A	37962510	G	A	37962510	3	1	79	1	0	0	0	0	1	0	0	0	3084	1232	43	2	156	2	CDC42EP1	22	37962510	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70049	37962510	13342056	20985	31302											
GGA1	26088	broad.mit.edu	37	chr22	38019351	38019351	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caggaccagaagcggatggaGaagatctcgaagagggtgaa	16	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38019351G>T	ENST00000343632.4	+	8	1013	c.627G>T	c.(625-627)gaG>gaT	p.E209D	GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000381756.5_Missense_Mutation_p.E226D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D|GGA1_ENST00000406772.1_Missense_Mutation_p.E136D	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	209	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCGGATGGAGAAGATCTCGA	0.587											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000406772.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(406-408)gaG>gaT		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							185	178	181					22																	38019351		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38019351G>T	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.627G>T	22.37:g.38019351G>T	ENSP00000341344:p.Glu209Asp		OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	GGA1_ENST00000381756.5_Missense_Mutation_p.E226D|GGA1_ENST00000343632.4_Missense_Mutation_p.E209D|GGA1_ENST00000337437.4_Missense_Mutation_p.E176D|GGA1_ENST00000325180.8_Missense_Mutation_p.E209D	p.E136D	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN			9	1060	+	Melanoma(58;0.0574)		209			Interaction with ARF3.|VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.408G>T	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256362	0.80246	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.05	0.359	0.16088	GAT (2);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	M	0.87180	2.865	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.875	D;D;P	0.91635	0.999;0.995;0.627	T	0.61884	-0.6971	10	0.27082	T	0.32	-29.7801	10.6864	0.45846	0.3379:0.0:0.6621:0.0	.	226;209;209	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	D	209;226;209;176;201;136	ENSP00000341344:E209D;ENSP00000371175:E226D;ENSP00000321288:E209D;ENSP00000338647:E176D;ENSP00000390416:E201D;ENSP00000385287:E136D	ENSP00000321288:E209D	E	+	3	2	GGA1	36349297	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.076000	0.57591	0.159000	0.19401	0.563000	0.77884	GAG		0.587	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365		177	980	1	0	1.73106e-74	1	2.20561e-74	177	980					T	38019351	G	T	38019351	3	4	79	1	0	0	0	0	1	0	0	0	6381	933	33	3	723	3	GGA1	22	38019351	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56841	38019351	13285215	20986	31303											
SH3BP1	23616	broad.mit.edu	37	chr22	38038957	38038957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctggcccgcatcctggccGagtttgagatgaccctggag	14	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38038957G>A	ENST00000357436.4	+	5	653	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SH3BP1_ENST00000599616.1_Missense_Mutation_p.E50K|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	114	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)					CATCCTGGCCGAGTTTGAGAT	0.642											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(148-150)Gag>Aag		SH3-domain binding protein 1							63	55	58					22																	38038957		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38038957G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.340G>A	22.37:g.38038957G>A	ENSP00000350018:p.Glu114Lys		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000442465.2_Missense_Mutation_p.E114K|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E114K|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E114K|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA	p.E50K			Q9Y3L3	3BP1_HUMAN			3	148	+	Melanoma(58;0.0574)		114			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.148G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099966	0.76983	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.64618	-0.11;-0.11;-0.11	4.51	4.51	0.55191	BAR (2);	0.111773	0.39274	N	0.001419	T	0.70753	0.3260	L	0.43152	1.355	0.42677	D	0.993533	P;D;D;D;D	0.89917	0.763;1.0;0.992;1.0;1.0	B;D;P;D;D	0.69824	0.245;0.966;0.557;0.966;0.966	T	0.68640	-0.5355	10	0.31617	T	0.26	.	15.5694	0.76323	0.0:0.0:1.0:0.0	.	114;28;50;114;28	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	K	114;114;114;28	ENSP00000350018:E114K;ENSP00000337213:E114K;ENSP00000395126:E114K	ENSP00000337213:E114K	E	+	1	0	SH3BP1	36368903	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	3.545000	0.53648	2.338000	0.79540	0.491000	0.48974	GAG		0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		63	336	0	0	0	1	0	63	336					A	38038957	G	A	38038957	3	1	79	1	0	0	0	0	1	0	0	0	14294	1059	37	1	358	1	SH3BP1	22	38038957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19606	38038957	13265609	20987	31304											
SH3BP1	23616	broad.mit.edu	37	chr22	38043329	38043329	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctctgatgaccttcgacctCtatgatgactggatgagggc	11	11	2	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043329C>T	ENST00000357436.4	+	12	1405	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	SH3BP1_ENST00000599616.1_Silent_p.L300L|SH3BP1_ENST00000336738.5_Silent_p.L364L|SH3BP1_ENST00000442465.2_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	364	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTTCGACCTCTATGATGACT	0.627																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(898-900)ctC>ctT		SH3-domain binding protein 1							114	113	113					22																	38043329		2203	4300	6503	SO:0001819	synonymous_variant	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38043329C>T		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.1092C>T	22.37:g.38043329C>T						SH3BP1_ENST00000442465.2_Silent_p.L364L|SH3BP1_ENST00000357436.4_Silent_p.L364L|SH3BP1_ENST00000336738.5_Silent_p.L364L|Z83844.1_ENST00000456099.1_RNA	p.L300L			Q9Y3L3	3BP1_HUMAN			10	900	+	Melanoma(58;0.0574)		364			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	ENST00000357436.4	37	c.900C>T	CCDS13952.2																																																																																				0.627	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		23	681	0	0	0	1	0	23	681					T	38043329	C	T	38043329	2	4	79	1	0	0	0	0	0	0	0	1	14294	900	32	2		2	SH3BP1	22	38043329	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4372	38043329	13261237	20988	31305											
SH3BP1	23616	broad.mit.edu	37	chr22	38043498	38043498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccaagaggtgtgcagccGcctaccccccgagaacctca	9	18	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043498G>A	ENST00000357436.4	+	13	1482	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	SH3BP1_ENST00000599616.1_Missense_Mutation_p.R326H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H|SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	390	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GTGTGCAGCCGCCTACCCCCC	0.701																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(976-978)cGc>cAc		SH3-domain binding protein 1							14	19	17					22																	38043498		2200	4297	6497	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38043498G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1169G>A	22.37:g.38043498G>A	ENSP00000350018:p.Arg390His					SH3BP1_ENST00000442465.2_Missense_Mutation_p.R390H|SH3BP1_ENST00000357436.4_Missense_Mutation_p.R390H|SH3BP1_ENST00000336738.5_Missense_Mutation_p.R390H|Z83844.1_ENST00000456099.1_RNA	p.R326H			Q9Y3L3	3BP1_HUMAN			11	977	+	Melanoma(58;0.0574)		390			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.977G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.683971	0.29872	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18960	2.18;2.18;2.18	5.52	3.42	0.39159	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.214766	0.32624	N	0.005850	T	0.36853	0.0982	L	0.53249	1.67	0.09310	N	1	B;D;B;P;D	0.89917	0.043;1.0;0.047;0.919;1.0	B;D;B;B;D	0.74348	0.013;0.983;0.012;0.189;0.983	T	0.04961	-1.0915	10	0.72032	D	0.01	.	9.3123	0.37912	0.2242:0.0:0.7758:0.0	.	390;304;326;390;304	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	H	390;390;390;304	ENSP00000350018:R390H;ENSP00000337213:R390H;ENSP00000395126:R390H	ENSP00000337213:R390H	R	+	2	0	SH3BP1	36373444	0.037000	0.19845	0.997000	0.53966	0.303000	0.27691	1.677000	0.37576	1.353000	0.45828	-0.439000	0.05793	CGC		0.701	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		34	153	0	0	0	1	0	34	153					A	38043498	G	A	38043498	3	1	79	1	0	0	0	0	1	0	0	0	14294	1087	38	1	1219	1	SH3BP1	22	38043498	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	169	38043498	13261068	20989	31306											
TRIOBP	11078	broad.mit.edu	37	chr22	38120147	38120147	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acacgagacaaccccagaacAtcctgcgcccagcgggacaa	9	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38120147A>G	ENST00000406386.3	+	7	1839	c.1584A>G	c.(1582-1584)acA>acG	p.T528T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	528					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)					ACCCCAGAACATCCTGCGCCC	0.597																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1582-1584)acA>acG		TRIO and F-actin binding protein							63	104	91					22																	38120147		1931	4157	6088	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120147A>G	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.1584A>G	22.37:g.38120147A>G						RP1-37E16.12_ENST00000455236.1_RNA	p.T528T	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1839	+	Melanoma(58;0.0574)		528					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1584A>G	CCDS43015.1																																																																																				0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			113	875	0	0	0	1	0	113	875					G	38120147	A	G	38120147	2	3	79	1	0	0	0	0	0	0	0	1	16606	204	8	4		4	TRIOBP	22	38120147	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	76649	38120147	13184419	20990	31307											
TRIOBP	11078	broad.mit.edu	37	chr22	38165063	38165063	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcactgaagcgagagCtgcaggtgctatcggagcag	17	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38165063C>T	ENST00000406386.3	+	20	6859	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	TRIOBP_ENST00000403663.2_Silent_p.L489L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2202					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)					GAAGCGAGAGCTGCAGGTGCT	0.622																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6604-6606)Ctg>Ttg		TRIO and F-actin binding protein							49	55	53					22																	38165063		2186	4298	6484	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165063C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6604C>T	22.37:g.38165063C>T						TRIOBP_ENST00000403663.2_Silent_p.L489L|RP1-37E16.12_ENST00000455236.1_RNA	p.L2202L	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			20	6859	+	Melanoma(58;0.0574)		2202					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.6604C>T	CCDS43015.1																																																																																				0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			53	288	0	0	0	1	0	53	288					T	38165063	C	T	38165063	2	4	79	1	0	0	0	0	0	0	0	1	16606	796	28	2		2	TRIOBP	22	38165063	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	44916	38165063	13139503	20991	31308											
GCAT	23464	broad.mit.edu	37	chr22	38208974	38208974	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctatcccagctgttatgaCgccaacgccggcctctttga	8	15	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38208974C>T	ENST00000248924.6	+	3	464	c.408C>T	c.(406-408)gaC>gaT	p.D136D	GCAT_ENST00000415371.1_3'UTR|GCAT_ENST00000323205.6_Silent_p.D162D	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	136					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GCTGTTATGACGCCAACGCCG	0.567																																						ENST00000323205.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(484-486)gaC>gaT		glycine C-acetyltransferase	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						86	77	80					22																	38208974		2203	4300	6503	SO:0001819	synonymous_variant	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38208974C>T	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.408C>T	22.37:g.38208974C>T						GCAT_ENST00000248924.6_Silent_p.D136D|GCAT_ENST00000415371.1_3'UTR	p.D162D	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN			3	549	+	Melanoma(58;0.045)		136					E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	37	c.486C>T	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	C	4.950	0.176494	0.09443	.	.	ENSG00000100116	ENST00000451984	.	.	.	5.73	1.01	0.19927	.	.	.	.	.	T	0.56963	0.2021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49466	-0.8937	4	.	.	.	-19.321	8.9862	0.35994	0.0:0.2989:0.0:0.7011	.	.	.	.	M	121	.	.	T	+	2	0	GCAT	36538920	1.000000	0.71417	0.998000	0.56505	0.464000	0.32679	0.826000	0.27407	0.112000	0.17975	-0.290000	0.09829	ACG		0.567	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		67	346	0	0	0	1	0	67	346					T	38208974	C	T	38208974	2	4	79	1	0	0	0	0	0	0	0	1	6312	535	19	1		1	GCAT	22	38208974	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43911	38208974	13095592	20992	31309											
ANKRD54	129138	broad.mit.edu	37	chr22	38228671	38228671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtactggtcatctgcagGcgggtgcagaggtcatccag	15	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38228671G>A	ENST00000215941.4	-	7	993	c.801C>T	c.(799-801)cgC>cgT	p.R267R	ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000406423.1_Silent_p.R147R|ANKRD54_ENST00000609454.1_Silent_p.R74R	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	267					nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TCATCTGCAGGCGGGTGCAGA	0.617																																						ENST00000215941.4																			0				lung(1)	1						c.(799-801)cgC>cgT		ankyrin repeat domain 54							85	76	79					22																	38228671		2203	4300	6503	SO:0001819	synonymous_variant	129138							g.chr22:38228671G>A	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"Ankyrin repeat domain containing"	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.801C>T	22.37:g.38228671G>A						ANKRD54_ENST00000411961.2_Silent_p.R251R|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Silent_p.R147R	p.R267R	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN			7	993	-	Melanoma(58;0.045)		267					Q6ZSB1|Q9UGV1	Silent	SNP	ENST00000215941.4	37	c.801C>T	CCDS13959.1	.	.	.	.	.	.	.	.	.	.	G	1.387	-0.581820	0.03827	.	.	ENSG00000100124	ENST00000458278	.	.	.	5.59	0.318	0.15867	.	.	.	.	.	T	0.51346	0.1669	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37686	-0.9695	4	.	.	.	-2.3947	5.602	0.17359	0.1421:0.3334:0.4339:0.0905	.	.	.	.	V	183	.	.	A	-	2	0	ANKRD54	36558617	1.000000	0.71417	0.993000	0.49108	0.085000	0.17905	2.009000	0.40903	0.025000	0.15241	-0.813000	0.03139	GCC		0.617	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319490.1	NM_138797		9	373	0	0	0	1	0	9	373					A	38228671	G	A	38228671	2	1	79	1	0	0	0	0	0	0	0	1	680	1190	42	2		2	ANKRD54	22	38228671	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19697	38228671	13075895	20993	31310											
EIF3L	51386	broad.mit.edu	37	chr22	38273869	38273869	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgccccaagttcctgtcGcctgtagtgcccaactatga	8	15	0	1	rs536868063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38273869G>A	ENST00000412331.2	+	11	1848	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_ENST00000406934.1_Silent_p.S324S|EIF3L_ENST00000381683.6_Silent_p.S374S	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTTCCTGTCGCCTGTAGTGC	0.507																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1264-1266)tcG>tcA		eukaryotic translation initiation factor 3, subunit L							73	63	67					22																	38273869		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38273869G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1266G>A	22.37:g.38273869G>A						EIF3L_ENST00000381683.6_Silent_p.S374S|EIF3L_ENST00000406934.1_Silent_p.S324S	p.S422S	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			11	1848	+			422						Silent	SNP	ENST00000412331.2	37	c.1266G>A	CCDS13960.1																																																																																				0.507	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		68	339	0	0	0	1	0	68	339					A	38273869	G	A	38273869	2	1	79	1	0	0	0	0	0	0	0	1	5040	1074	38	1		1	EIF3L	22	38273869	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45198	38273869	13030697	20994	31311											
MICALL1	85377	broad.mit.edu	37	chr22	38308394	38308394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaggagctggggatccccGctctcctggaccccaatgac	12	14	1	2	rs114708609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308394G>A	ENST00000215957.6	+	3	358	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	78	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)	p.A78T(1)		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)					GGGGATCCCCGCTCTCCTGGA	0.592													G|||	6	0.00119808	0.0038	0.0	5008	,	,		17461	0.001		0.0	False		,,,				2504	0.0					ENST00000215957.6																			1	Substitution - Missense(1)	p.A78T(1)	large_intestine(1)	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						c.(232-234)Gct>Act		MICAL-like 1		G	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	80	71	74		232	4.7	1	22	dbSNP_132	74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MICALL1	NM_033386.3	58	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging	78/864	38308394	7,12999	2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38308394G>A	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.232G>A	22.37:g.38308394G>A	ENSP00000215957:p.Ala78Thr						p.A78T	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			3	358	+	Melanoma(58;0.045)		78			CH.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.232G>A	CCDS13961.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.488600	0.96323	0.001362	1.16E-4	ENSG00000100139	ENST00000215957	D	0.94793	-3.52	4.69	4.69	0.59074	Calponin homology domain (5);	0.310182	0.22740	N	0.056202	D	0.96935	0.8999	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97262	0.9905	10	0.66056	D	0.02	.	18.2487	0.89996	0.0:0.0:1.0:0.0	.	78	Q8N3F8	MILK1_HUMAN	T	78	ENSP00000215957:A78T	ENSP00000215957:A78T	A	+	1	0	MICALL1	36638340	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.604000	0.82830	2.609000	0.88269	0.632000	0.83419	GCT		0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		65	318	0	0	0	1	0	65	318					A	38308394	G	A	38308394	3	1	79	1	0	0	0	0	1	0	0	0	9614	1087	38	1	242	1	MICALL1	22	38308394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	34525	38308394	12996172	20995	31312											
MICALL1	85377	broad.mit.edu	37	chr22	38308422	38308422	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggaccccaatgacatggtctCcatgagcgtccctgactgcc	10	15	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308422C>A	ENST00000215957.6	+	3	386	c.260C>A	c.(259-261)tCc>tAc	p.S87Y		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	87	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)					GACATGGTCTCCATGAGCGTC	0.592																																						ENST00000215957.6																			0				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						c.(259-261)tCc>tAc		MICAL-like 1							101	87	92					22																	38308422		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38308422C>A	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.260C>A	22.37:g.38308422C>A	ENSP00000215957:p.Ser87Tyr						p.S87Y	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			3	386	+	Melanoma(58;0.045)		87			CH.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.260C>A	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000656	0.74818	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	T;D	0.94184	-0.82;-3.37	4.81	3.78	0.43462	Calponin homology domain (5);	0.462106	0.18277	N	0.146127	D	0.95529	0.8547	L	0.58302	1.8	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.95483	0.8562	10	0.59425	D	0.04	.	15.5965	0.76587	0.0:0.8619:0.138:0.0	.	87	Q8N3F8	MILK1_HUMAN	Y	3;87	ENSP00000404543:S3Y;ENSP00000215957:S87Y	ENSP00000215957:S87Y	S	+	2	0	MICALL1	36638368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.958000	0.49145	1.387000	0.46486	0.632000	0.83419	TCC		0.592	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		89	332	1	0	1.32003e-40	1	1.60129e-40	89	332					A	38308422	C	A	38308422	3	1	79	1	0	0	0	0	1	0	0	0	9614	855	30	3	270	3	MICALL1	22	38308422	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	28	38308422	12996144	20996	31313											
MICALL1	85377	broad.mit.edu	37	chr22	38308468	38308468	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcatgacctatgtgtcccaGtattacaaccacttctgcag	6	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308468G>T	ENST00000215957.6	+	3	432	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	102	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)					ATGTGTCCCAGTATTACAACC	0.602																																						ENST00000215957.6																			0				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						c.(304-306)caG>caT		MICAL-like 1							107	95	99					22																	38308468		2203	4300	6503	SO:0001583	missense	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38308468G>T	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.306G>T	22.37:g.38308468G>T	ENSP00000215957:p.Gln102His						p.Q102H	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			3	432	+	Melanoma(58;0.045)		102			CH.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	c.306G>T	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513329	0.85389	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	D;D	0.95377	-2.12;-3.69	4.81	3.78	0.43462	Calponin homology domain (5);	0.563079	0.15342	N	0.267424	D	0.97701	0.9246	M	0.89414	3.03	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	D	0.97047	0.9761	10	0.37606	T	0.19	.	13.8851	0.63704	0.0744:0.0:0.9256:0.0	.	102	Q8N3F8	MILK1_HUMAN	H	18;102	ENSP00000404543:Q18H;ENSP00000215957:Q102H	ENSP00000215957:Q102H	Q	+	3	2	MICALL1	36638414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.548000	0.67255	1.395000	0.46643	0.632000	0.83419	CAG		0.602	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		52	380	1	0	2.29192e-23	1	2.60423e-23	52	380					T	38308468	G	T	38308468	3	4	79	1	0	0	0	0	1	0	0	0	9614	1020	36	3	316	3	MICALL1	22	38308468	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46	38308468	12996098	20997	31314											
MICALL1	85377	broad.mit.edu	37	chr22	38323737	38323737	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtccccagccagccaaGccctgcagtggcgccacccc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38323737G>A	ENST00000215957.6	+	9	1911	c.1785G>A	c.(1783-1785)aaG>aaA	p.K595K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	595	Pro-rich.				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)					AGCCAGCCAAGCCCTGCAGTG	0.642																																						ENST00000215957.6																			0				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						c.(1783-1785)aaG>aaA		MICAL-like 1							68	76	73					22																	38323737		2203	4300	6503	SO:0001819	synonymous_variant	85377					cytoplasm|cytoskeleton	protein binding|zinc ion binding	g.chr22:38323737G>A	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.1785G>A	22.37:g.38323737G>A						MICALL1_ENST00000402631.1_3'UTR	p.K595K	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN			9	1911	+	Melanoma(58;0.045)		595			Pro-rich.		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	ENST00000215957.6	37	c.1785G>A	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032402	0.07543	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.75079	0.3801	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73723	-0.3893	4	.	.	.	.	19.1255	0.93382	0.0:0.0:1.0:0.0	.	.	.	.	T	173	.	.	A	+	1	0	MICALL1	36653683	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	3.334000	0.52097	2.513000	0.84729	0.555000	0.69702	GCC		0.642	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386		163	709	0	0	0	1	0	163	709					A	38323737	G	A	38323737	2	1	79	1	0	0	0	0	0	0	0	1	9614	962	34	2		2	MICALL1	22	38323737	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15269	38323737	12980829	20998	31315											
PICK1	9463	broad.mit.edu	37	chr22	38470346	38470346	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccctttaccgggtgagcacCggcaactatgagtaccgcct	10	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38470346C>T	ENST00000404072.3	+	12	1214	c.867C>T	c.(865-867)acC>acT	p.T289T	PICK1_ENST00000356976.3_Silent_p.T289T|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	289	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGGTGAGCACCGGCAACTATG	0.672											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(865-867)acC>acT		protein interacting with PRKCA 1							27	30	29					22																	38470346		2203	4298	6501	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38470346C>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"protein kinase C, alpha binding protein", "protein interacting with PRKCA"	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.867C>T	22.37:g.38470346C>T			OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	PICK1_ENST00000356976.3_Silent_p.T289T	p.T289T	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			12	1214	+	Melanoma(58;0.045)		289			AH.		B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.867C>T	CCDS13965.1																																																																																				0.672	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		55	228	0	0	0	1	0	55	228					T	38470346	C	T	38470346	2	4	79	1	0	0	0	0	0	0	0	1	11923	639	23	1		1	PICK1	22	38470346	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	146609	38470346	12834220	20999	31316											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38505149	38505149	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcactcaccgtggaaggCacgcaggtagttgttgccca	13	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38505149C>T	ENST00000381669.3	-	2	262	c.118G>A	c.(118-120)Gcc>Acc	p.A40T	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	40	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCGTGGAAGGCACGCAGGTAG	0.637																																						ENST00000381669.3																			0				large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8						c.(118-120)Gcc>Acc		BAI1-associated protein 2-like 2							59	66	64					22																	38505149		1995	4162	6157	SO:0001583	missense	80115				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding	g.chr22:38505149C>T	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.118G>A	22.37:g.38505149C>T	ENSP00000371085:p.Ala40Thr					BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.A40T	p.A40T	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN			2	262	-	Melanoma(58;0.045)		40			IMD.		B0QYE2|Q96BG7	Missense_Mutation	SNP	ENST00000381669.3	37	c.118G>A	CCDS43018.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189363	0.57909	.	.	ENSG00000128298	ENST00000381669;ENST00000402500;ENST00000332536	.	.	.	5.03	3.97	0.46021	IRSp53/MIM homology domain (IMD) (3);	0.055036	0.64402	D	0.000001	T	0.67173	0.2865	M	0.80616	2.505	0.58432	D	0.999999	P	0.35872	0.525	B	0.39258	0.295	T	0.71573	-0.4552	9	0.66056	D	0.02	-1.8304	14.3751	0.66867	0.1494:0.8506:0.0:0.0	.	40	Q6UXY1	BI2L2_HUMAN	T	40	.	ENSP00000328876:A40T	A	-	1	0	BAIAP2L2	36835095	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.721000	0.54941	1.034000	0.39945	0.313000	0.20887	GCC		0.637	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045		46	228	0	0	0	1	0	46	228					T	38505149	C	T	38505149	3	4	79	1	0	0	0	0	1	0	0	0	1304	710	25	2	1523	2	BAIAP2L2	22	38505149	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34803	38505149	12799417	21000	31317											
PLA2G6	8398	broad.mit.edu	37	chr22	38512102	38512102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgagggctgagctggaggcCtgaggttaacgttctggttg	17	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38512102C>A	ENST00000332509.3	-	13	2042	c.1859G>T	c.(1858-1860)aGg>aTg	p.R620M	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	620	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)	AGCTGGAGGCCTGAGGTTAAC	0.582																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1858-1860)aGg>aTg		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						71	68	69					22																	38512102		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38512102C>A	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.1859G>T	22.37:g.38512102C>A	ENSP00000333142:p.Arg620Met					PLA2G6_ENST00000335539.3_Missense_Mutation_p.R566M|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R566M	p.R620M	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			13	2042	-	Melanoma(58;0.045)		620					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1859G>T	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	c	13.60	2.285178	0.40394	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.80480	-1.38;-1.38;-1.38	4.57	-2.08	0.07254	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.372399	0.30771	N	0.008917	T	0.78761	0.4334	M	0.67700	2.07	0.25226	N	0.989869	B;P	0.37176	0.32;0.586	B;P	0.46419	0.176;0.516	T	0.72077	-0.4399	10	0.62326	D	0.03	-17.3447	6.2876	0.21041	0.0:0.3876:0.1364:0.476	.	566;620	O60733-2;O60733	.;PA2G6_HUMAN	M	620;481;566;566	ENSP00000333142:R620M;ENSP00000335149:R566M;ENSP00000386100:R566M	ENSP00000333142:R620M	R	-	2	0	PLA2G6	36842048	0.034000	0.19679	0.497000	0.27552	0.065000	0.16274	0.078000	0.14761	-0.412000	0.07519	-0.258000	0.10820	AGG		0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		53	238	1	0	9.72345e-25	1	1.11288e-24	53	238					A	38512102	C	A	38512102	3	1	79	1	0	0	0	0	1	0	0	0	12050	681	24	3	581	3	PLA2G6	22	38512102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6953	38512102	12792464	21001	31318											
PLA2G6	8398	broad.mit.edu	37	chr22	38516823	38516823	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaactcccgcttcaggaacTcctccaggggccccgactcg	9	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38516823T>C	ENST00000332509.3	-	12	1868	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G|PLA2G6_ENST00000490473.1_5'Flank|PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	562	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)	CTTCAGGAACTCCTCCAGGGG	0.622																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1684-1686)gAg>gGg		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						85	85	85					22																	38516823		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38516823T>C	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.1685A>G	22.37:g.38516823T>C	ENSP00000333142:p.Glu562Gly					PLA2G6_ENST00000335539.3_Missense_Mutation_p.E508G|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E508G	p.E562G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			12	1868	-	Melanoma(58;0.045)		562					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.1685A>G	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641152	0.47153	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.78364	-1.17;-1.17;-1.17	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.164580	0.53938	N	0.000044	D	0.83936	0.5362	L	0.58101	1.795	0.80722	D	1	D;B	0.63880	0.993;0.004	P;B	0.60886	0.88;0.016	D	0.83691	0.0177	10	0.40728	T	0.16	-41.0939	15.5648	0.76281	0.0:0.0:0.0:1.0	.	508;562	O60733-2;O60733	.;PA2G6_HUMAN	G	562;423;508;508	ENSP00000333142:E562G;ENSP00000335149:E508G;ENSP00000386100:E508G	ENSP00000333142:E562G	E	-	2	0	PLA2G6	36846769	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	7.272000	0.78516	2.071000	0.62044	0.454000	0.30748	GAG		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		104	597	0	0	0	1	0	104	597					C	38516823	T	C	38516823	3	2	79	1	0	0	0	0	1	0	0	0	12050	1551	54	4	759	4	PLA2G6	22	38516823	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4721	38516823	12787743	21002	31319											
PLA2G6	8398	broad.mit.edu	37	chr22	38531004	38531004	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatccactcacctctgcgttCttggcccagtggagggggct	13	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531004C>A	ENST00000332509.3	-	6	1068	c.885G>T	c.(883-885)aaG>aaT	p.K295N	PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N|PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	295					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)	CCTCTGCGTTCTTGGCCCAGT	0.657																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(883-885)aaG>aaT		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						42	43	43					22																	38531004		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531004C>A	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.885G>T	22.37:g.38531004C>A	ENSP00000333142:p.Lys295Asn					PLA2G6_ENST00000335539.3_Missense_Mutation_p.K295N|PLA2G6_ENST00000402064.1_Missense_Mutation_p.K295N	p.K295N	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1068	-	Melanoma(58;0.045)		295					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.885G>T	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.54|15.54	2.862454|2.862454	0.51482|0.51482	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.62941|.	-0.01;-0.01;-0.01|.	5.67|5.67	2.51|2.51	0.30379|0.30379	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.35740|0.35740	0.0942|0.0942	N|N	0.13098|0.13098	0.295|0.295	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	1.0;1.0;0.993|.	D;D;D|.	0.91635|.	0.999;0.997;0.917|.	T|T	0.04693|0.04693	-1.0933|-1.0933	10|5	0.25106|.	T|.	0.35|.	-42.4992|-42.4992	8.61|8.61	0.33797|0.33797	0.0:0.6465:0.0:0.3535|0.0:0.6465:0.0:0.3535	.|.	260;295;295|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	N|I	295;156;295;295;223;295;260|100;47;126	ENSP00000333142:K295N;ENSP00000335149:K295N;ENSP00000386100:K295N|.	ENSP00000333142:K295N|.	K|R	-|-	3|2	2|0	PLA2G6|PLA2G6	36860950|36860950	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.453000|0.453000	0.32348|0.32348	0.802000|0.802000	0.27069|0.27069	0.352000|0.352000	0.24053|0.24053	-0.254000|-0.254000	0.11334|0.11334	AAG|AGA		0.657	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		37	163	1	0	1.04594e-18	1	1.16214e-18	37	163					A	38531004	C	A	38531004	3	1	79	1	0	0	0	0	1	0	0	0	12050	912	32	3	1583	3	PLA2G6	22	38531004	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14181	38531004	12773562	21003	31320											
PLA2G6	8398	broad.mit.edu	37	chr22	38531055	38531055	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cgggggtctttgctgtggatCtggctgctgtccatgctgat	15	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531055C>A	ENST00000332509.3	-	6	1017	c.834G>T	c.(832-834)caG>caT	p.Q278H	PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	278					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)	TGCTGTGGATCTGGCTGCTGT	0.647																																						ENST00000332509.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(832-834)caG>caT		phospholipase A2, group VI (cytosolic, calcium-independent)	Quinacrine(DB01103)						78	73	75					22																	38531055		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38531055C>A	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.834G>T	22.37:g.38531055C>A	ENSP00000333142:p.Gln278His					PLA2G6_ENST00000335539.3_Missense_Mutation_p.Q278H|PLA2G6_ENST00000402064.1_Missense_Mutation_p.Q278H	p.Q278H	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN			6	1017	-	Melanoma(58;0.045)		278					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.834G>T	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.571138|4.571138	0.86542|0.86542	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461|ENST00000427114;ENST00000427453;ENST00000452542	T;T;T|.	0.64803|.	-0.12;-0.12;-0.12|.	5.67|5.67	4.65|4.65	0.58169|0.58169	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62048|0.62048	0.2396|0.2396	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.997;0.94|.	T|T	0.58070|0.58070	-0.7701|-0.7701	10|5	0.49607|.	T|.	0.09|.	-36.4843|-36.4843	14.9064|14.9064	0.70724|0.70724	0.0:0.9304:0.0:0.0696|0.0:0.9304:0.0:0.0696	.|.	243;278;278|.	B7Z6K3;O60733-2;O60733|.	.;.;PA2G6_HUMAN|.	H|I	278;139;278;278;206;278;243|83;30;109	ENSP00000333142:Q278H;ENSP00000335149:Q278H;ENSP00000386100:Q278H|.	ENSP00000333142:Q278H|.	Q|R	-|-	3|2	2|0	PLA2G6|PLA2G6	36861001|36861001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.159000|4.159000	0.58157|0.58157	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.647	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		7	221	1	0	0.000157383	1	0.000159814	7	221					A	38531055	C	A	38531055	3	1	79	1	0	0	0	0	1	0	0	0	12050	912	32	3	1634	3	PLA2G6	22	38531055	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51	38531055	12773511	21004	31321											
MAFF	23764	broad.mit.edu	37	chr22	38610487	38610487	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgaggcgctgatggggctgTcggtgcgcgagctgaaccgg	19	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610487T>C	ENST00000338483.2	+	3	459	c.97T>C	c.(97-99)Tcg>Ccg	p.S33P	MAFF_ENST00000538320.1_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000426621.2_Missense_Mutation_p.S33P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	33					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)					GATGGGGCTGTCGGTGCGCGA	0.672																																						ENST00000338483.2																			0				lung(2)|skin(1)	3						c.(97-99)Tcg>Ccg		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F							18	19	19					22																	38610487		2142	4215	6357	SO:0001583	missense	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38610487T>C	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.97T>C	22.37:g.38610487T>C	ENSP00000345393:p.Ser33Pro					MAFF_ENST00000538320.1_Missense_Mutation_p.S33P|MAFF_ENST00000407965.1_Missense_Mutation_p.S33P|MAFF_ENST00000538999.1_Missense_Mutation_p.S4P|MAFF_ENST00000426621.2_Missense_Mutation_p.S33P	p.S33P			Q9ULX9	MAFF_HUMAN			3	459	+	Melanoma(58;0.045)		33					B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	37	c.97T>C	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644350	0.87859	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	3.92	3.92	0.45320	Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.077114	0.53938	D	0.000044	D	0.95127	0.8421	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93992	0.7268	10	0.32370	T	0.25	-5.0985	12.7691	0.57410	0.0:0.0:0.0:1.0	.	33	Q9ULX9	MAFF_HUMAN	P	33;33;4;4;33;33;33	ENSP00000345393:S33P;ENSP00000442060:S33P;ENSP00000441482:S4P;ENSP00000391589:S4P;ENSP00000416493:S33P;ENSP00000388882:S33P;ENSP00000384094:S33P	ENSP00000345393:S33P	S	+	1	0	MAFF	36940433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.154000	0.71826	1.404000	0.46819	0.374000	0.22700	TCG		0.672	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	NM_001161572		19	165	0	0	0	1	0	19	165					C	38610487	T	C	38610487	3	2	79	1	0	0	0	0	1	0	0	0	9198	1667	58	4	103	4	MAFF	22	38610487	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	79432	38610487	12694079	21005	31322											
MAFF	23764	broad.mit.edu	37	chr22	38610560	38610560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggctcaagcagcggcgccGcacactcaaaaaccgtggct	11	15	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610560G>A	ENST00000338483.2	+	3	532	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MAFF_ENST00000538320.1_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	57	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)					CAGCGGCGCCGCACACTCAAA	0.682																																						ENST00000338483.2																			0				lung(2)|skin(1)	3						c.(169-171)cGc>cAc		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F							12	13	13					22																	38610560		2200	4290	6490	SO:0001583	missense	23764				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:38610560G>A	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.170G>A	22.37:g.38610560G>A	ENSP00000345393:p.Arg57His					MAFF_ENST00000538320.1_Missense_Mutation_p.R57H|MAFF_ENST00000407965.1_Missense_Mutation_p.R57H|MAFF_ENST00000538999.1_Missense_Mutation_p.R28H|MAFF_ENST00000426621.2_Missense_Mutation_p.R57H	p.R57H			Q9ULX9	MAFF_HUMAN			3	532	+	Melanoma(58;0.045)		57					B4DV49|Q9Y525	Missense_Mutation	SNP	ENST00000338483.2	37	c.170G>A	CCDS13968.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570085	0.96540	.	.	ENSG00000185022	ENST00000338483;ENST00000538320;ENST00000538999;ENST00000441709;ENST00000417948;ENST00000426621;ENST00000407965	D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	3.92	3.92	0.45320	Basic-leucine zipper (bZIP) transcription factor (2);Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99811	1.1041	10	0.87932	D	0	-9.8937	15.9272	0.79628	0.0:0.0:1.0:0.0	.	57	Q9ULX9	MAFF_HUMAN	H	57;57;28;28;57;57;57	ENSP00000345393:R57H;ENSP00000442060:R57H;ENSP00000441482:R28H;ENSP00000391589:R28H;ENSP00000416493:R57H;ENSP00000388882:R57H;ENSP00000384094:R57H	ENSP00000345393:R57H	R	+	2	0	MAFF	36940506	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.670000	0.98625	1.719000	0.51432	0.455000	0.32223	CGC		0.682	MAFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321624.1	NM_001161572		21	77	0	0	0	1	0	21	77					A	38610560	G	A	38610560	3	1	79	1	0	0	0	0	1	0	0	0	9198	1087	38	1	176	1	MAFF	22	38610560	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	73	38610560	12694006	21006	31323											
TMEM184B	25829	broad.mit.edu	37	chr22	38643832	38643832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagccagagatggcctgagCggcagttgtcatcaggaaca	14	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38643832C>T	ENST00000361906.3	-	2	344	c.136G>A	c.(136-138)Gct>Act	p.A46T	TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	46						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					ATGGCCTGAGCGGCAGTTGTC	0.637																																						ENST00000361906.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(136-138)Gct>Act		transmembrane protein 184B							59	51	54					22																	38643832		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38643832C>T	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.136G>A	22.37:g.38643832C>T	ENSP00000355210:p.Ala46Thr					TMEM184B_ENST00000361684.4_Missense_Mutation_p.A46T	p.A46T	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN			2	344	-	Melanoma(58;0.045)		46					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.136G>A	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772239	0.90108	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.44083	0.93;0.93	4.66	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80982	2.52	0.80722	D	1	D	0.61080	0.989	P	0.62491	0.903	T	0.64019	-0.6505	10	0.44086	T	0.13	.	12.9039	0.58141	0.0:0.9207:0.0:0.0793	.	46	Q9Y519	T184B_HUMAN	T	46	ENSP00000355210:A46T;ENSP00000354441:A46T	ENSP00000354441:A46T	A	-	1	0	TMEM184B	36973778	1.000000	0.71417	0.141000	0.22245	0.966000	0.64601	5.569000	0.67391	0.960000	0.38005	0.491000	0.48974	GCT		0.637	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		5	146	0	0	0	1	0	5	146					T	38643832	C	T	38643832	3	4	79	1	0	0	0	0	1	0	0	0	16157	768	27	1	1119	1	TMEM184B	22	38643832	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33272	38643832	12660734	21007	31324											
KCNJ4	3761	broad.mit.edu	37	chr22	38823648	38823648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggtgccaatcatgaaggagtCgatgacgcagcccacgatgg	14	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823648C>T	ENST00000303592.3	-	2	748	c.490G>A	c.(490-492)Gac>Aac	p.D164N	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium. {ECO:0000250}.			potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGAAGGAGTCGATGACGCAG	0.627																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(490-492)Gac>Aac		potassium inwardly-rectifying channel, subfamily J, member 4							62	56	58					22																	38823648		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823648C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.490G>A	22.37:g.38823648C>T	ENSP00000306497:p.Asp164Asn						p.D164N	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	748	-	Melanoma(58;0.0286)		164				Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).	Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.490G>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398230	0.62177	.	.	ENSG00000168135	ENST00000303592	D	0.93712	-3.27	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93955	0.7235	10	0.26408	T	0.33	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	164	P48050	IRK4_HUMAN	N	164	ENSP00000306497:D164N	ENSP00000306497:D164N	D	-	1	0	KCNJ4	37153594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.071000	0.71229	2.472000	0.83506	0.555000	0.69702	GAC		0.627	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		62	247	0	0	0	1	0	62	247					T	38823648	C	T	38823648	3	4	79	1	0	0	0	0	1	0	0	0	8083	884	31	1	851	1	KCNJ4	22	38823648	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	179816	38823648	12480918	21008	31325											
KCNJ4	3761	broad.mit.edu	37	chr22	38823876	38823876	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggcacccctgggctggcctCcaggtcaccgtggaagaagg	15	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823876C>A	ENST00000303592.3	-	2	520	c.262G>T	c.(262-264)Gag>Tag	p.E88*	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	88					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGGCTGGCCTCCAGGTCACCG	0.672																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(262-264)Gag>Tag		potassium inwardly-rectifying channel, subfamily J, member 4							39	29	32					22																	38823876		2203	4299	6502	SO:0001587	stop_gained	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823876C>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.262G>T	22.37:g.38823876C>A	ENSP00000306497:p.Glu88*						p.E88*	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	520	-	Melanoma(58;0.0286)		88					Q14D44	Nonsense_Mutation	SNP	ENST00000303592.3	37	c.262G>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	36	5.695931	0.96802	.	.	ENSG00000168135	ENST00000303592	.	.	.	4.8	4.8	0.61643	.	13.954000	0.01991	U	0.045513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	13.7734	0.63039	0.0:1.0:0.0:0.0	.	.	.	.	X	88	.	ENSP00000306497:E88X	E	-	1	0	KCNJ4	37153822	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.020000	0.70826	2.392000	0.81423	0.555000	0.69702	GAG		0.672	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		48	217	1	0	1.07234e-20	1	1.20343e-20	48	217					A	38823876	C	A	38823876	4	1	79	1	0	0	0	0	0	1	0	0	8083	864	30	3	1079	3	KCNJ4	22	38823876	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	228	38823876	12480690	21009	31326											
KDELR3	11015	broad.mit.edu	37	chr22	38877488	38877488	+	Intron	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtaggtcctgggatgacaGcaatgctgacactggcctaa	13	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38877488G>T	ENST00000216014.4	+	4	776				KDELR3_ENST00000409006.3_Missense_Mutation_p.S208I|KDELR3_ENST00000471268.1_Intron	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGGGATGACAGCAATGCTGAC	0.433																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000409006.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(622-624)aGc>aTc		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3							118	108	111					22																	38877488		2203	4300	6503	SO:0001627	intron_variant	0				protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	g.chr22:38877488G>T	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.604+19G>T	22.37:g.38877488G>T						KDELR3_ENST00000216014.4_Intron|KDELR3_ENST00000471268.1_Intron	p.S208I	NM_016657.1	NP_057839.1	O43731	ERD23_HUMAN			4	779	+	Melanoma(58;0.0286)		0					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Missense_Mutation	SNP	ENST00000216014.4	37	c.623G>T	CCDS13972.1	.	.	.	.	.	.	.	.	.	.	G	7.639	0.680392	0.14907	.	.	ENSG00000100196	ENST00000409006	T	0.46819	0.86	2.55	1.45	0.22620	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.19516	-1.0303	7	.	.	.	.	6.145	0.20280	0.3912:0.0:0.6087:0.0	.	208	O43731-2	.	I	208	ENSP00000386918:S208I	.	S	+	2	0	KDELR3	37207434	0.368000	0.25031	0.006000	0.13384	0.031000	0.12232	1.862000	0.39448	0.578000	0.29487	0.585000	0.79938	AGC		0.433	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			78	338	1	0	3.3814e-41	1	4.10641e-41	78	338					T	38877488	G	T	38877488	1	4	79	0	1	0	0	0	0	0	0	0	8151	971	34	3		3	KDELR3	22	38877488	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53612	38877488	12427078	21010	31327											
DMC1	11144	broad.mit.edu	37	chr22	38933650	38933650	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcacaaaaacagccacGttatattctgcatcaagaga	7	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38933650G>A	ENST00000216024.2	-	12	1059	c.783C>T	c.(781-783)aaC>aaT	p.N261N	DMC1_ENST00000428462.2_Silent_p.N206N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	261					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAACAGCCACGTTATATTCTG	0.318								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(781-783)aaC>aaT	Homologous recombination	DNA meiotic recombinase 1							74	76	75					22																	38933650		2203	4300	6503	SO:0001819	synonymous_variant	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38933650G>A	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.783C>T	22.37:g.38933650G>A						DMC1_ENST00000428462.2_Silent_p.N206N	p.N261N	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			12	1059	-	Melanoma(58;0.0286)		261					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Silent	SNP	ENST00000216024.2	37	c.783C>T	CCDS13973.1																																																																																				0.318	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		62	298	0	0	0	1	0	62	298					A	38933650	G	A	38933650	2	1	79	1	0	0	0	0	0	0	0	1	4595	1136	40	1		1	DMC1	22	38933650	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	56162	38933650	12370916	21011	31328											
CBY1	25776	broad.mit.edu	37	chr22	39067160	39067160	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggaggaagagaacaatctCttgcggctgaaagtggacat	13	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39067160C>A	ENST00000216029.3	+	4	404	c.270C>A	c.(268-270)ctC>ctA	p.L90L	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	90	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation (GO:0055007)|cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein localization (GO:0008104)	ciliary basal body (GO:0036064)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-catenin binding (GO:0008013)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGAACAATCTCTTGCGGCTGA	0.567																																						ENST00000216029.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4						c.(268-270)ctC>ctA		chibby homolog 1 (Drosophila)							139	134	136					22																	39067160		2203	4300	6503	SO:0001819	synonymous_variant	25776				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding	g.chr22:39067160C>A	BK005534	CCDS13974.1, CCDS74861.1	22q12	2014-02-06	2007-01-26	2007-01-26	ENSG00000100211	ENSG00000100211			1307	protein-coding gene	gene with protein product	"chibby CTNNB1-mediated transcription inhibitor"	607757	"chromosome 22 open reading frame 2", "PKD2 interactor, golgi and endoplasmic reticulum associated 1"	C22orf2, PGEA1		10591208, 15194699	Standard	NM_015373		Approved	PIGEA14, PIGEA-14, Chibby, Cby	uc003awb.4	Q9Y3M2	OTTHUMG00000150990	ENST00000216029.3:c.270C>A	22.37:g.39067160C>A						RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000444381.1_RNA	p.L90L	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN			4	404	+	Melanoma(58;0.04)		90			Minimal region for the interaction with PKD2.		B2R4S2|Q66GT6|Q9UIK9	Silent	SNP	ENST00000216029.3	37	c.270C>A	CCDS13974.1																																																																																				0.567	CBY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320832.1	NM_015373		114	447	1	0	6.87118e-46	1	8.4335e-46	114	447					A	39067160	C	A	39067160	2	1	79	1	0	0	0	0	0	0	0	1	2732	900	32	3		3	CBY1	22	39067160	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133510	39067160	12237406	21012	31329											
SUN2	25777	broad.mit.edu	37	chr22	39135889	39135889	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaggagccccacGcggccccctccacctcgggc	10	20	2	1	rs199929528		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39135889G>A	ENST00000405510.1	-	14	1774	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	RP3-508I15.19_ENST00000418803.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Silent_p.R493R|SUN2_ENST00000406622.1_Silent_p.R472R|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000216064.4_Silent_p.R472R|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	472					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						GGAGCCCCACGCGGCCCCCTC	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18725	0.0		0.0	False		,,,				2504	0.0					ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(1414-1416)cgC>cgT		Sad1 and UNC84 domain containing 2							74	84	81					22																	39135889		2203	4300	6503	SO:0001819	synonymous_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39135889G>A	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.1416C>T	22.37:g.39135889G>A						RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Silent_p.R461R|SUN2_ENST00000216064.4_Silent_p.R472R|SUN2_ENST00000406622.1_Silent_p.R472R|SUN2_ENST00000405018.1_Silent_p.R493R	p.R472R	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			14	1774	-			472					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	37	c.1416C>T	CCDS13978.1																																																																																				0.622	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		148	738	0	0	0	1	0	148	738					A	39135889	G	A	39135889	2	1	79	1	0	0	0	0	0	0	0	1	15444	1074	38	1		1	SUN2	22	39135889	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	68729	39135889	12168677	21013	31330											
SUN2	25777	broad.mit.edu	37	chr22	39141701	39141701	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactcacctggaaatgtggCgatgagtctctggcttccca	11	11	2	2	rs374425217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141701C>T	ENST00000405510.1	-	9	1159	c.801G>A	c.(799-801)tcG>tcA	p.S267S	RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000405018.1_Silent_p.S288S|SUN2_ENST00000406622.1_Silent_p.S267S|SUN2_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000216064.4_Silent_p.S267S|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	267					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						GGAAATGTGGCGATGAGTCTC	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19314	0.0		0.001	False		,,,				2504	0.0					ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(799-801)tcG>tcA		Sad1 and UNC84 domain containing 2		C	,,	1,4405	2.1+/-5.4	0,1,2202	75	69	71		864,801,801	-0.2	0	22		71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SUN2	NM_001199579.1,NM_001199580.1,NM_015374.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	288/739,267/718,267/718	39141701	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39141701C>T	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.801G>A	22.37:g.39141701C>T						RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Silent_p.S256S|SUN2_ENST00000216064.4_Silent_p.S267S|SUN2_ENST00000406622.1_Silent_p.S267S|SUN2_ENST00000405018.1_Silent_p.S288S	p.S267S	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			9	1159	-			267					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	37	c.801G>A	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.492060	0.01009	2.27E-4	0.0	ENSG00000100242	ENST00000430185	.	.	.	4.76	-0.16	0.13375	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.29792	-1.0000	4	.	.	.	-6.1881	7.6254	0.28210	0.0:0.2975:0.402:0.3005	.	.	.	.	H	124	.	.	R	-	2	0	SUN2	37471647	0.273000	0.24181	0.002000	0.10522	0.005000	0.04900	0.829000	0.27449	0.100000	0.17581	-1.602000	0.00811	CGC		0.582	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		8	250	0	0	0	1	0	8	250					T	39141701	C	T	39141701	2	4	79	1	0	0	0	0	0	0	0	1	15444	755	27	1		1	SUN2	22	39141701	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5812	39141701	12162865	21014	31331											
SUN2	25777	broad.mit.edu	37	chr22	39141735	39141735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcccagccctcatccggcCtcctgctgtccttcgctgcc	7	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39141735C>T	ENST00000405510.1	-	9	1125	c.767G>A	c.(766-768)aGg>aAg	p.R256K	RP3-508I15.21_ENST00000609212.1_RNA|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.R277K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	256					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						CTCATCCGGCCTCCTGCTGTC	0.567																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(766-768)aGg>aAg		Sad1 and UNC84 domain containing 2							69	64	66					22																	39141735		2203	4300	6503	SO:0001583	missense	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39141735C>T	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.767G>A	22.37:g.39141735C>T	ENSP00000385740:p.Arg256Lys					RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R245K|SUN2_ENST00000216064.4_Missense_Mutation_p.R256K|SUN2_ENST00000406622.1_Missense_Mutation_p.R256K|SUN2_ENST00000405018.1_Missense_Mutation_p.R277K	p.R256K	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			9	1125	-			256					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	ENST00000405510.1	37	c.767G>A	CCDS13978.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.702|0.702	-0.790583|-0.790583	0.02884|0.02884	.|.	.|.	ENSG00000100242|ENSG00000100242	ENST00000430185|ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000438058	.|T;T;T;T;T;T	.|0.30448	.|2.76;2.76;2.78;2.76;2.76;1.53	5.35|5.35	-7.91|-7.91	0.01165|0.01165	.|.	.|1.479880	.|0.04075	.|N	.|0.308683	T|T	0.10121|0.10121	0.0248|0.0248	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.001;0.0	T|T	0.29822|0.29822	-0.9999|-0.9999	5|10	.|0.13470	.|T	.|0.59	-2.6364|-2.6364	10.0122|10.0122	0.41992|0.41992	0.0:0.2353:0.1106:0.6541|0.0:0.2353:0.1106:0.6541	.|.	.|245;291;256;277;256	.|B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.|.;.;.;.;SUN2_HUMAN	S|K	113|256;256;277;256;245;210	.|ENSP00000385740:R256K;ENSP00000216064:R256K;ENSP00000385616:R277K;ENSP00000383992:R256K;ENSP00000395601:R245K;ENSP00000406941:R210K	.|ENSP00000216064:R256K	G|R	-|-	1|2	0|0	SUN2|SUN2	37471681|37471681	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.548000|-0.548000	0.06048|0.06048	-1.264000|-1.264000	0.02452|0.02452	-0.878000|-0.878000	0.02970|0.02970	GGC|AGG		0.567	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		6	203	0	0	0	1	0	6	203					T	39141735	C	T	39141735	3	4	79	1	0	0	0	0	1	0	0	0	15444	681	24	2	1430	2	SUN2	22	39141735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	34	39141735	12162831	21015	31332											
DNAL4	10126	broad.mit.edu	37	chr22	39176946	39176946	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatacctcgttgttgttggaGaatttctcacaggctgtgac	10	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39176946G>T	ENST00000216068.4	-	3	382	c.138C>A	c.(136-138)ttC>ttA	p.F46L	DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L|DNAL4_ENST00000486019.1_Intron|SUN2_ENST00000406622.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	46					microtubule-based process (GO:0007017)|neurotrophin TRK receptor signaling pathway (GO:0048011)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	motor activity (GO:0003774)			lung(1)|skin(1)	2	Melanoma(58;0.04)					TGTTGTTGGAGAATTTCTCAC	0.557																																						ENST00000216068.4																			0				lung(1)|skin(1)	2						c.(136-138)ttC>ttA		dynein, axonemal, light chain 4							145	114	125					22																	39176946		2203	4300	6503	SO:0001583	missense	10126				microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity	g.chr22:39176946G>T	AL035366	CCDS13979.1	22q13.1	2008-06-10	2006-09-04		ENSG00000100246	ENSG00000100246		"Axonemal dyneins"	2955	protein-coding gene	gene with protein product		610565	"dynein, axonemal, light polypeptide 4", "dynein, axonemal, light 4"			10591208	Standard	NM_005740		Approved	dJ327J16, PIG27	uc003awj.3	O96015	OTTHUMG00000151025	ENST00000216068.4:c.138C>A	22.37:g.39176946G>T	ENSP00000216068:p.Phe46Leu					SUN2_ENST00000406622.1_Intron|DNAL4_ENST00000486019.1_Intron|DNAL4_ENST00000406199.3_Missense_Mutation_p.F46L	p.F46L	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN			3	382	-	Melanoma(58;0.04)		46					Q6FGB2|Q6FGD0	Missense_Mutation	SNP	ENST00000216068.4	37	c.138C>A	CCDS13979.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310387	0.60414	.	.	ENSG00000100246	ENST00000216068;ENST00000406199	.	.	.	5.21	4.2	0.49525	.	0.193608	0.56097	D	0.000037	T	0.65281	0.2676	M	0.81239	2.535	0.51012	D	0.999905	B	0.21225	0.053	B	0.35353	0.201	T	0.66654	-0.5869	9	0.48119	T	0.1	.	7.6392	0.28284	0.2353:0.0:0.7647:0.0	.	46	O96015	DNAL4_HUMAN	L	46	.	ENSP00000216068:F46L	F	-	3	2	DNAL4	37506892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.204000	0.42761	2.428000	0.82296	0.561000	0.74099	TTC		0.557	DNAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321032.1	NM_005740		37	167	1	0	1.15183e-24	1	1.31825e-24	37	167					T	39176946	G	T	39176946	3	4	79	1	0	0	0	0	1	0	0	0	4674	933	33	3	187	3	DNAL4	22	39176946	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35211	39176946	12127620	21016	31333											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387493	39387493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgtgccggggaagtgCgtgcgttccttcaggagaac	18	9	1	1	rs374260464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39387493C>T	ENST00000333467.3	+	6	925	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R294C|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C|APOBEC3B-AS1_ENST00000513758.2_RNA	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	294					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)					CGGGGAAGTGCGTGCGTTCCT	0.582																																						ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(880-882)Cgt>Tgt		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							102	103	103					22																	39387493		2198	4283	6481	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387493C>T	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.880C>T	22.37:g.39387493C>T	ENSP00000327459:p.Arg294Cys					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R269C|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R294C	p.R294C			Q9UH17	ABC3B_HUMAN			6	935	+	Melanoma(58;0.04)		294					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.880C>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	3.119	-0.181057	0.06380	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66638	-0.22;-0.22;-0.22	2.0	-3.51	0.04696	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.52125	0.1715	L	0.55743	1.74	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.48352	-0.9043	9	0.72032	D	0.01	.	0.9054	0.01283	0.2574:0.3452:0.2302:0.1673	.	269;294	B0QYD2;Q9UH17	.;ABC3B_HUMAN	C	269;294;294	ENSP00000385068:R269C;ENSP00000385060:R294C;ENSP00000327459:R294C	ENSP00000327459:R294C	R	+	1	0	APOBEC3B	37717439	0.197000	0.23362	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.801000	0.04427	-1.842000	0.00583	CGT		0.582	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		22	1045	0	0	0	1	0	22	1045					T	39387493	C	T	39387493	3	4	79	1	0	0	0	0	1	0	0	0	790	768	27	1	902	1	APOBEC3B	22	39387493	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210547	39387493	11917073	21017	31334											
APOBEC3D	140564	broad.mit.edu	37	chr22	39418964	39418964	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaatctcctttgggacaCaggggtctttcgaggcccgg	12	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	ENST00000216099.8	+	2	562	c.155C>T	c.(154-156)aCa>aTa	p.T52I	APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I|APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	52					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTTTGGGACACAGGGGTCTTT	0.493																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(154-156)aCa>aTa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							53	60	58					22																	39418964		2203	4300	6503	SO:0001583	missense	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39418964C>T	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.155C>T	22.37:g.39418964C>T	ENSP00000216099:p.Thr52Ile					APOBEC3D_ENST00000381568.4_Missense_Mutation_p.T52I|APOBEC3D_ENST00000427494.2_Missense_Mutation_p.T52I	p.T52I	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			2	562	+	Melanoma(58;0.04)		52					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Missense_Mutation	SNP	ENST00000216099.8	37	c.155C>T	CCDS46709.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.849772	0.32699	.	.	ENSG00000243811	ENST00000381568;ENST00000216099;ENST00000427494	T;T;T	0.64260	-0.09;-0.09;0.03	2.36	-4.72	0.03269	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.51058	0.1652	L	0.39898	1.24	0.09310	N	1	P;D;P	0.54397	0.684;0.966;0.501	B;P;B	0.48368	0.326;0.575;0.109	T	0.48703	-0.9012	9	0.52906	T	0.07	.	4.8818	0.13683	0.4815:0.2903:0.2282:0.0	.	52;52;52	B2CML4;Q6ICH2;Q96AK3	.;.;ABC3D_HUMAN	I	52	ENSP00000370980:T52I;ENSP00000216099:T52I;ENSP00000388017:T52I	ENSP00000216099:T52I	T	+	2	0	APOBEC3D	37748910	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-3.192000	0.00564	-1.504000	0.01810	0.485000	0.47835	ACA		0.493	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		75	350	0	0	0	1	0	75	350					T	39418964	C	T	39418964	3	4	79	1	0	0	0	0	1	0	0	0	792	478	17	2	161	2	APOBEC3D	22	39418964	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31471	39418964	11885602	21018	31335											
APOBEC3G	60489	broad.mit.edu	37	chr22	39482486	39482486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcatcttcactgcccGcatctatgatgatcaaggaa	8	12	4	2	rs542681958		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39482486G>A	ENST00000407997.3	+	6	1295	c.938G>A	c.(937-939)cGc>cAc	p.R313H	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	313	Interaction with DNA. {ECO:0000305}.|Necessary for homooligomerization.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TTCACTGCCCGCATCTATGAT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17744	0.001		0.0	False		,,,				2504	0.0					ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(937-939)cGc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G							114	119	117					22																	39482486		2203	4300	6503	SO:0001583	missense	60489							g.chr22:39482486G>A	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.938G>A	22.37:g.39482486G>A	ENSP00000385057:p.Arg313His					APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R313H	p.R313H	NM_021822.3	NP_068594.1					6	1295	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	ENST00000407997.3	37	c.938G>A	CCDS13984.1	.	.	.	.	.	.	.	.	.	.	.	13.11	2.138435	0.37728	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66815	-0.23;-0.23	1.56	1.56	0.23342	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.68577	0.3016	M	0.88906	2.99	0.25718	N	0.985403	B	0.28584	0.216	B	0.25884	0.064	T	0.65685	-0.6108	9	0.72032	D	0.01	.	9.0538	0.36392	0.0:0.0:1.0:0.0	.	313	Q9HC16	ABC3G_HUMAN	H	313	ENSP00000413376:R313H;ENSP00000385057:R313H	ENSP00000385057:R313H	R	+	2	0	APOBEC3G	37812432	1.000000	0.71417	0.743000	0.31040	0.066000	0.16364	5.716000	0.68437	1.168000	0.42723	0.484000	0.47621	CGC		0.512	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		148	738	0	0	0	1	0	148	738					A	39482486	G	A	39482486	3	1	79	1	0	0	0	0	1	0	0	0	794	1087	38	1	960	1	APOBEC3G	22	39482486	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	63522	39482486	11822080	21019	31336											
PDGFB	5155	broad.mit.edu	37	chr22	39629477	39629477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagccaagctctccagctcGcctccagagtgggagcgggt	14	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39629477G>A	ENST00000331163.6	-	3	1000	c.213C>T	c.(211-213)ggC>ggT	p.G71G	PDGFB_ENST00000381551.4_Silent_p.G56G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	71					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)					TCTCCAGCTCGCCTCCAGAGT	0.597			T	COL1A1	DFSP																																	ENST00000331163.6				Dom	yes		22	22q12.3-q13.1	5155	T	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)			M	COL1A1		DFSP	COL1A1/PDGFB(429)	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7						c.(211-213)ggC>ggT		platelet-derived growth factor beta polypeptide	Becaplermin(DB00102)						58	59	59					22																	39629477		2203	4300	6503	SO:0001819	synonymous_variant	5155				activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity	g.chr22:39629477G>A		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.213C>T	22.37:g.39629477G>A						PDGFB_ENST00000381551.4_Silent_p.G56G	p.G71G	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN			3	1000	-	Melanoma(58;0.04)		71					G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Silent	SNP	ENST00000331163.6	37	c.213C>T	CCDS13987.1																																																																																				0.597	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608		14	297	0	0	0	1	0	14	297					A	39629477	G	A	39629477	2	1	79	1	0	0	0	0	0	0	0	1	11700	1074	38	1		1	PDGFB	22	39629477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	146991	39629477	11675089	21020	31337											
SYNGR1	9145	broad.mit.edu	37	chr22	39770548	39770548	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaagccgtcctgtccgacatCggtgtctcgggtgagcccca	12	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000216155.7_Silent_p.I109I|SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	109	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(325-327)atC>atT		synaptogyrin 1							84	59	67					22																	39770548		2203	4300	6503	SO:0001819	synonymous_variant	9145							g.chr22:39770548C>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.327C>T	22.37:g.39770548C>T						SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000216155.7_Silent_p.I109I	p.I109I	NM_004711.4	NP_004702.2					2	342	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	ENST00000328933.5	37	c.327C>T	CCDS13989.1																																																																																				0.632	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		56	270	0	0	0	1	0	56	270					T	39770548	C	T	39770548	2	4	79	1	0	0	0	0	0	0	0	1	15500	874	31	1		1	SYNGR1	22	39770548	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141071	39770548	11534018	21021	31338											
SYNGR1	9145	broad.mit.edu	37	chr22	39777719	39777719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggcgggccaggctgtgctgGccttccagcggtaccagatt	15	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39777719G>T	ENST00000328933.5	+	4	517	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	168	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGCTGTGCTGGCCTTCCAGCG	0.652																																						ENST00000328933.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(502-504)Gcc>Tcc		synaptogyrin 1							37	39	38					22																	39777719		2203	4300	6503	SO:0001583	missense	9145							g.chr22:39777719G>T	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.502G>T	22.37:g.39777719G>T	ENSP00000332287:p.Ala168Ser						p.A168S	NM_004711.4	NP_004702.2					4	517	+	Melanoma(58;0.04)							A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	37	c.502G>T	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.733179	0.69189	.	.	ENSG00000100321	ENST00000328933	T	0.72282	-0.64	4.52	4.52	0.55395	Marvel (1);	0.159554	0.53938	D	0.000052	T	0.68137	0.2968	M	0.66378	2.025	0.80722	D	1	B	0.34200	0.441	B	0.28553	0.091	T	0.71820	-0.4477	10	0.46703	T	0.11	.	17.4528	0.87597	0.0:0.0:1.0:0.0	.	168	O43759	SNG1_HUMAN	S	168	ENSP00000332287:A168S	ENSP00000332287:A168S	A	+	1	0	SYNGR1	38107665	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.249000	0.95470	2.341000	0.79615	0.462000	0.41574	GCC		0.652	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		77	320	1	0	2.26256e-52	1	2.81376e-52	77	320					T	39777719	G	T	39777719	3	4	79	1	0	0	0	0	1	0	0	0	15500	1203	42	3	719	3	SYNGR1	22	39777719	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7171	39777719	11526847	21022	31339											
TAB1	10454	broad.mit.edu	37	chr22	39822803	39822803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgaagcgcatccacagCgacaccttcgccagtggtgg	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39822803C>T	ENST00000216160.6	+	9	1079	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	TAB1_ENST00000331454.3_Silent_p.S339S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	339	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						GCATCCACAGCGACACCTTCG	0.627																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(1015-1017)agC>agT		TGF-beta activated kinase 1/MAP3K7 binding protein 1							99	88	92					22																	39822803		2203	4300	6503	SO:0001819	synonymous_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39822803C>T	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.1017C>T	22.37:g.39822803C>T						TAB1_ENST00000331454.3_Silent_p.S339S	p.S339S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			9	1079	+			339			PP2C-like.		Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	c.1017C>T	CCDS13993.1																																																																																				0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		129	521	0	0	0	1	0	129	521					T	39822803	C	T	39822803	2	4	79	1	0	0	0	0	0	0	0	1	15547	767	27	1		1	TAB1	22	39822803	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	45084	39822803	11481763	21023	31340											
MGAT3	4248	broad.mit.edu	37	chr22	39883623	39883623	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgccgcccagcaaggcggccGaggagctccaccgggtggac	16	15	0	0	rs369875382		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39883623G>A	ENST00000341184.6	+	2	486	c.271G>A	c.(271-273)Gag>Aag	p.E91K		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	91					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)					CAAGGCGGCCGAGGAGCTCCA	0.697																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(271-273)Gag>Aag		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase		G	LYS/GLU,LYS/GLU	0,4384		0,0,2192	19	24	22		271,271	4.9	0.8	22		22	1,8559		0,1,4279	no	missense,missense	MGAT3	NM_001098270.1,NM_002409.4	56,56	0,1,6471	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	91/534,91/534	39883623	1,12943	2192	4280	6472	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883623G>A	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.271G>A	22.37:g.39883623G>A	ENSP00000345270:p.Glu91Lys						p.E91K	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	486	+	Melanoma(58;0.04)		91					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.271G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089656	0.36855	0.0	1.17E-4	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	4.93	4.93	0.64822	.	0.209294	0.40385	N	0.001102	T	0.48943	0.1528	L	0.27053	0.805	0.38999	D	0.959309	D	0.61080	0.989	P	0.47573	0.55	T	0.56914	-0.7900	9	0.54805	T	0.06	.	18.1411	0.89639	0.0:0.0:1.0:0.0	.	91	Q09327	MGAT3_HUMAN	K	91	.	ENSP00000345270:E91K	E	+	1	0	MGAT3	38213569	1.000000	0.71417	0.790000	0.31976	0.406000	0.30931	5.095000	0.64529	2.281000	0.76405	0.467000	0.42956	GAG		0.697	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		84	342	0	0	0	1	0	84	342					A	39883623	G	A	39883623	3	1	79	1	0	0	0	0	1	0	0	0	9585	1059	37	1	273	1	MGAT3	22	39883623	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60820	39883623	11420943	21024	31341											
CACNA1I	8911	broad.mit.edu	37	chr22	39966944	39966944	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctattgccttcttctgcctgCgacagaccaccagcccccgg	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39966944C>T	ENST00000402142.3	+	1	187	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000336649.4_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	63					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)	CTTCTGCCTGCGACAGACCAC	0.652																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(187-189)Cga>Tga		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						80	90	87					22																	39966944		2081	4198	6279	SO:0001587	stop_gained	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:39966944C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.187C>T	22.37:g.39966944C>T	ENSP00000385019:p.Arg63*					CACNA1I_ENST00000401624.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000402142.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000400164.3_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000404898.1_Nonsense_Mutation_p.R63*|CACNA1I_ENST00000407673.1_Nonsense_Mutation_p.R63*	p.R63*			Q9P0X4	CAC1I_HUMAN			1	187	+	Melanoma(58;0.0749)		63					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Nonsense_Mutation	SNP	ENST00000402142.3	37	c.187C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	38	6.821164	0.97865	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	.	.	.	5.27	4.18	0.49190	.	3.044690	0.01288	N	0.009929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6336	0.51189	0.3447:0.6553:0.0:0.0	.	.	.	.	X	63	.	ENSP00000337829:R63X	R	+	1	2	CACNA1I	38296890	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.915000	0.63355	2.633000	0.89246	0.561000	0.74099	CGA		0.652	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		89	505	0	0	0	1	0	89	505					T	39966944	C	T	39966944	4	4	79	1	0	0	0	0	0	1	0	0	2553	760	27	1	189	1	CACNA1I	22	39966944	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	83321	39966944	11337622	21025	31342											
CACNA1I	8911	broad.mit.edu	37	chr22	40036947	40036947	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatctgctccctgtcGggcgacaatgggataatggg	12	12	2	0	rs192152982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40036947G>A	ENST00000402142.3	+	6	816	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S|CACNA1I_ENST00000336649.4_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	272					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)	GCTCCCTGTCGGGCGACAATG	0.612													G|||	2	0.000399361	0.0	0.0	5008	,	,		21265	0.0		0.002	False		,,,				2504	0.0					ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(814-816)tcG>tcA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	G	,	1,4181		0,1,2090	49	54	52		816,816	-3.2	1	22		52	18,8410		0,18,4196	no	coding-synonymous,coding-synonymous	CACNA1I	NM_001003406.1,NM_021096.3	,	0,19,6286	AA,AG,GG		0.2136,0.0239,0.1507	,	272/2189,272/2224	40036947	19,12591	2091	4214	6305	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40036947G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.816G>A	22.37:g.40036947G>A						CACNA1I_ENST00000401624.1_Silent_p.S272S|CACNA1I_ENST00000402142.3_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S	p.S272S			Q9P0X4	CAC1I_HUMAN			8	816	+	Melanoma(58;0.0749)		272					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.816G>A	CCDS46710.1																																																																																				0.612	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		16	155	0	0	0	1	0	16	155					A	40036947	G	A	40036947	2	1	79	1	0	0	0	0	0	0	0	1	2553	1103	39	1		1	CACNA1I	22	40036947	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	70003	40036947	11267619	21026	31343											
CACNA1I	8911	broad.mit.edu	37	chr22	40060787	40060787	+	Missense_Mutation	SNP	G	G	A													cggcgagcaggcgtacctacGcagcagctggaacgtgctgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060787G>A	ENST00000402142.3	+	21	3710	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1243H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1237					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)	GCGTACCTACGCAGCAGCTGG	0.682																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3727-3729)cGc>cAc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						54	59	57					22																	40060787		2114	4223	6337	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060787G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3710G>A	22.37:g.40060787G>A	ENSP00000385019:p.Arg1237His					CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1237H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1237H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1202H|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1202H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1202H	p.R1243H			Q9P0X4	CAC1I_HUMAN			24	3728	+	Melanoma(58;0.0749)		1237					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3728G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	34	5.381626	0.95967	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.89968	3.075	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.99066	1.0832	10	0.72032	D	0.01	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1202;1237;1202;1237	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	H	1237;1202;1237;1202;1243;1202	ENSP00000385019:R1237H;ENSP00000384093:R1202H;ENSP00000383887:R1237H;ENSP00000385680:R1202H;ENSP00000337829:R1243H;ENSP00000383028:R1202H	ENSP00000337829:R1243H	R	+	2	0	CACNA1I	38390733	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.541000	0.73865	1.950000	0.56595	0.462000	0.41574	CGC		0.682	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		17	130	0	0	0	1	0	17	130					A	40060787	G	A	40060787	3	1	79	1	0	0	0	0	1	0	0	0	2553	1087	38	1	3792	1	CACNA1I	22	40060787	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23840	40060787	11243779	21027	31344	205	2									
CACNA1I	8911	broad.mit.edu	37	chr22	40060793	40060793	+	Missense_Mutation	SNP	G	G	T													gcaggcgtacctacgcagcaGctggaacgtgctggatggct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060793G>T	ENST00000402142.3	+	21	3716	c.3716G>T	c.(3715-3717)aGc>aTc	p.S1239I	CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1245I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1239					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)	CTACGCAGCAGCTGGAACGTG	0.677																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3733-3735)aGc>aTc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						55	61	59					22																	40060793		2114	4228	6342	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060793G>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3716G>T	22.37:g.40060793G>T	ENSP00000385019:p.Ser1239Ile					CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1239I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1239I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1204I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1204I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1204I	p.S1245I			Q9P0X4	CAC1I_HUMAN			24	3734	+	Melanoma(58;0.0749)		1239					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3734G>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540607	0.85917	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	L	0.49513	1.565	0.52501	D	0.999959	D;D;D;D	0.89917	0.991;1.0;0.998;0.999	P;D;D;D	0.85130	0.883;0.997;0.962;0.997	D	0.99894	1.1142	10	0.87932	D	0	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1204;1239;1204;1239	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	1239;1204;1239;1204;1245;1204	ENSP00000385019:S1239I;ENSP00000384093:S1204I;ENSP00000383887:S1239I;ENSP00000385680:S1204I;ENSP00000337829:S1245I;ENSP00000383028:S1204I	ENSP00000337829:S1245I	S	+	2	0	CACNA1I	38390739	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.348000	0.73009	1.950000	0.56595	0.462000	0.41574	AGC		0.677	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		19	147	1	0	6.94344e-10	1	7.33246e-10	19	147					T	40060793	G	T	40060793	3	4	79	1	0	0	0	0	1	0	0	0	2553	971	34	3	3798	3	CACNA1I	22	40060793	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	40060793	11243773	21028	31345	205	2									
CACNA1I	8911	broad.mit.edu	37	chr22	40060864	40060864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtccctggcctcagccGggggagccaagatcttgggg	17	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060864G>A	ENST00000402142.3	+	21	3787	c.3787G>A	c.(3787-3789)Ggg>Agg	p.G1263R	CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1263R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000336649.4_Missense_Mutation_p.G1269R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1228R	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1263					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)	GGCCTCAGCCGGGGGAGCCAA	0.647																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3805-3807)Ggg>Agg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						54	62	60					22																	40060864		2071	4190	6261	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060864G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3787G>A	22.37:g.40060864G>A	ENSP00000385019:p.Gly1263Arg					CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1263R|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1263R|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1228R|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1228R|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1228R	p.G1269R			Q9P0X4	CAC1I_HUMAN			24	3805	+	Melanoma(58;0.0749)		1263					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3805G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305576	0.60305	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.80028	2.48	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.976;1.0;0.995;0.999	D	0.99782	1.1028	10	0.62326	D	0.03	.	16.7671	0.85527	0.0:0.0:1.0:0.0	.	1228;1263;1228;1263	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	R	1263;1228;1263;1228;1269;1228	ENSP00000385019:G1263R;ENSP00000384093:G1228R;ENSP00000383887:G1263R;ENSP00000385680:G1228R;ENSP00000337829:G1269R;ENSP00000383028:G1228R	ENSP00000337829:G1269R	G	+	1	0	CACNA1I	38390810	1.000000	0.71417	0.893000	0.35052	0.086000	0.17979	6.706000	0.74649	1.950000	0.56595	0.462000	0.41574	GGG		0.647	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		26	279	0	0	0	1	0	26	279					A	40060864	G	A	40060864	3	1	79	1	0	0	0	0	1	0	0	0	2553	1116	39	1	3869	1	CACNA1I	22	40060864	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	71	40060864	11243702	21029	31346											
GRAP2	9402	broad.mit.edu	37	chr22	40367030	40367030	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcctggtggaccggccGcctgcacaacaagctgggcc	12	17	0	0	rs201778964		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367030G>A	ENST00000344138.4	+	8	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	312	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGACCGGCCGCCTGCACAAC	0.597																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(934-936)cGc>cAc		GRB2-related adaptor protein 2							81	70	74					22																	40367030		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40367030G>A	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.935G>A	22.37:g.40367030G>A	ENSP00000339186:p.Arg312His					GRAP2_ENST00000543252.1_Missense_Mutation_p.R260H|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199H|GRAP2_ENST00000540310.1_Missense_Mutation_p.R246H|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240H|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312H	p.R312H	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			8	1198	+			312			SH3 2.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.935G>A	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975252	0.74360	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.55052	0.54;1.31;0.54;0.54;0.54;0.54	5.27	1.78	0.24846	Src homology-3 domain (5);	0.291746	0.36815	N	0.002393	T	0.51958	0.1705	L	0.39566	1.225	0.18873	N	0.999986	P;P;P;D;P	0.65815	0.884;0.956;0.718;0.995;0.914	B;P;B;P;P	0.58577	0.403;0.636;0.281;0.841;0.515	T	0.38478	-0.9659	10	0.72032	D	0.01	-6.3986	5.0818	0.14661	0.072:0.1274:0.538:0.2626	.	199;312;246;286;312	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	H	312;260;286;246;240;199;312	ENSP00000339186:R312H;ENSP00000446350:R260H;ENSP00000444734:R246H;ENSP00000442195:R240H;ENSP00000382040:R199H;ENSP00000385607:R312H	ENSP00000339186:R312H	R	+	2	0	GRAP2	38696976	0.755000	0.28372	0.932000	0.37286	0.984000	0.73092	3.216000	0.51176	0.569000	0.29329	0.557000	0.71058	CGC		0.597	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		66	302	0	0	0	1	0	66	302					A	40367030	G	A	40367030	3	1	79	1	0	0	0	0	1	0	0	0	6784	1087	38	1	961	1	GRAP2	22	40367030	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	306166	40367030	10937536	21030	31347											
GRAP2	9402	broad.mit.edu	37	chr22	40367084	40367084	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctacgtggcacccatgacccGataaactcttcaggggacag	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367084G>A	ENST00000344138.4	+	8	1252	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRAP2_ENST00000544756.1_Missense_Mutation_p.R258Q|GRAP2_ENST00000407075.3_Missense_Mutation_p.R330Q|GRAP2_ENST00000399090.2_Missense_Mutation_p.R217Q|GRAP2_ENST00000540310.1_Missense_Mutation_p.R264Q|GRAP2_ENST00000543252.1_Missense_Mutation_p.R278Q	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	330	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCATGACCCGATAAACTCTT	0.537																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(988-990)cGa>cAa		GRB2-related adaptor protein 2							62	56	58					22																	40367084		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40367084G>A	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.989G>A	22.37:g.40367084G>A	ENSP00000339186:p.Arg330Gln					GRAP2_ENST00000543252.1_Missense_Mutation_p.R278Q|GRAP2_ENST00000399090.2_Missense_Mutation_p.R217Q|GRAP2_ENST00000540310.1_Missense_Mutation_p.R264Q|GRAP2_ENST00000544756.1_Missense_Mutation_p.R258Q|GRAP2_ENST00000407075.3_Missense_Mutation_p.R330Q	p.R330Q	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			8	1252	+			330			SH3 2.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.989G>A	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090692	0.94149	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;D;T;T;T;T	0.81996	-0.44;-1.56;1.25;0.79;0.24;-0.44	5.43	5.43	0.79202	Src homology-3 domain (2);	0.081776	0.47455	D	0.000230	D	0.88047	0.6332	L	0.46819	1.47	0.38011	D	0.934545	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;0.998	D;P;D;P;P	0.85130	0.994;0.865;0.997;0.886;0.865	D	0.89486	0.3753	10	0.54805	T	0.06	.	15.0078	0.71527	0.0:0.0:0.8487:0.1513	.	217;330;264;304;330	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	Q	330;278;304;264;258;217;330	ENSP00000339186:R330Q;ENSP00000446350:R278Q;ENSP00000444734:R264Q;ENSP00000442195:R258Q;ENSP00000382040:R217Q;ENSP00000385607:R330Q	ENSP00000339186:R330Q	R	+	2	0	GRAP2	38697030	0.953000	0.32496	0.071000	0.20095	0.360000	0.29518	3.679000	0.54634	2.532000	0.85374	0.563000	0.77884	CGA		0.537	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		9	345	0	0	0	1	0	9	345					A	40367084	G	A	40367084	3	1	79	1	0	0	0	0	1	0	0	0	6784	1058	37	1	1015	1	GRAP2	22	40367084	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54	40367084	10937482	21031	31348											
FAM83F	113828	broad.mit.edu	37	chr22	40417900	40417900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccagctctgtctccacCgagacctctgaagtggagtt	11	12	3	2	rs553725529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	ENST00000333407.6	+	4	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	FAM83F_ENST00000473717.1_Silent_p.T294T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	462										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTCTCCACCGAGACCTCTG	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		15858	0.0		0.0	False		,,,				2504	0.001					ENST00000333407.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(1384-1386)acC>acT		family with sequence similarity 83, member F							45	54	51					22																	40417900		2130	4250	6380	SO:0001819	synonymous_variant	113828							g.chr22:40417900C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1386C>T	22.37:g.40417900C>T						FAM83F_ENST00000473717.1_3'UTR	p.T462T	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	1480	+			462					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.1386C>T	CCDS14000.2																																																																																				0.657	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		55	321	0	0	0	1	0	55	321					T	40417900	C	T	40417900	2	4	79	1	0	0	0	0	0	0	0	1	5663	639	23	1		1	FAM83F	22	40417900	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	50816	40417900	10886666	21032	31349											
TNRC6B	23112	broad.mit.edu	37	chr22	40661292	40661292	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcaaagatggaaaatgCgggtgttaattttgttgtct	12	4	2	1	rs375322900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40661292C>T	ENST00000454349.2	+	5	1269	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.A353V|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	353	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						ATGGAAAATGCGGGTGTTAAT	0.418																																						ENST00000454349.2																			0				breast(1)	1						c.(1057-1059)gCg>gTg		trinucleotide repeat containing 6B		C	,VAL/ALA,VAL/ALA	1,3833		0,1,1916	69	68	69		,1058,1058	5.1	1	22		69	2,8264		0,2,4131	no	intron,missense,missense	TNRC6B	NM_001024843.1,NM_001162501.1,NM_015088.2	,64,64	0,3,6047	TT,TC,CC		0.0242,0.0261,0.0248	,probably-damaging,probably-damaging	,353/1834,353/1724	40661292	3,12097	1917	4133	6050	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40661292C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1058C>T	22.37:g.40661292C>T	ENSP00000401946:p.Ala353Val					TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.A353V|TNRC6B_ENST00000402203.1_Intron	p.A353V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1269	+			353					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.1058C>T	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.076522|2.076522	0.36662|0.36662	2.61E-4|2.61E-4	2.42E-4|2.42E-4	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.56611|.	0.45;0.45|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.118257|.	0.56097|.	D|.	0.000022|.	T|T	0.56702|0.56702	0.2003|0.2003	L|L	0.29908|0.29908	0.895|0.895	0.37338|0.37338	D|D	0.910273|0.910273	D;P;P|.	0.56968|.	0.978;0.702;0.883|.	B;B;B|.	0.40534|.	0.332;0.073;0.152|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.62326|.	D|.	0.03|.	-3.7136|-3.7136	17.4699|17.4699	0.87643|0.87643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	353;353;353|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	V|W	353|96	ENSP00000401946:A353V;ENSP00000338371:A353V|.	ENSP00000338371:A353V|.	A|R	+|+	2|1	0|2	TNRC6B|TNRC6B	38991238|38991238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.997000|1.997000	0.40786|0.40786	2.369000|2.369000	0.80426|0.80426	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.418	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				14	335	0	0	0	1	0	14	335					T	40661292	C	T	40661292	3	4	79	1	0	0	0	0	1	0	0	0	16393	768	27	1	1197	1	TNRC6B	22	40661292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	243392	40661292	10643274	21033	31350											
ADSL	158	broad.mit.edu	37	chr22	40749110	40749110	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttagaaatgcacttgacctgCttttgccaaaggtaaggagt	10	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40749110C>T	ENST00000216194.7	+	3	447	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	131					'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						ACTTGACCTGCTTTTGCCAAA	0.363																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(391-393)Ctt>Ttt		adenylosuccinate lyase							118	109	112					22																	40749110		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40749110C>T	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.391C>T	22.37:g.40749110C>T	ENSP00000216194:p.Leu131Phe					ADSL_ENST00000454266.2_Intron|ADSL_ENST00000342312.6_Missense_Mutation_p.L131F	p.L131F	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			3	447	+			131					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.391C>T	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762268	0.89932	.	.	ENSG00000239900	ENST00000216194;ENST00000342312	D;D	0.99784	-6.74;-6.74	5.6	5.6	0.85130	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.76575	0.979;0.988;0.988	D	0.96915	0.9670	10	0.87932	D	0	.	17.4818	0.87674	0.0:1.0:0.0:0.0	.	131;131;131	P30566-2;Q71UA4;P30566	.;.;PUR8_HUMAN	F	131	ENSP00000216194:L131F;ENSP00000341429:L131F	ENSP00000216194:L131F	L	+	1	0	ADSL	39079056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.445000	0.66594	2.818000	0.97014	0.655000	0.94253	CTT		0.363	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		49	176	0	0	0	1	0	49	176					T	40749110	C	T	40749110	3	4	79	1	0	0	0	0	1	0	0	0	346	797	28	2	401	2	ADSL	22	40749110	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87818	40749110	10555456	21034	31351											
ADSL	158	broad.mit.edu	37	chr22	40754974	40754974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagatgacctgcgcttccggGgagtaaagggtaccactggc	15	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40754974G>A	ENST00000216194.7	+	5	645	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	197					'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						GCGCTTCCGGGGAGTAAAGGG	0.512																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(589-591)Gga>Aga		adenylosuccinate lyase							93	84	87					22																	40754974		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40754974G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.589G>A	22.37:g.40754974G>A	ENSP00000216194:p.Gly197Arg					ADSL_ENST00000454266.2_Missense_Mutation_p.G211R|ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.G197R	p.G197R	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			5	645	+			197					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.589G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	34	5.320746	0.95682	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.99304	-3.66;-3.66;-5.72	6.05	6.05	0.98169	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98178	4.165	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	0.97465	1.0037	10	0.87932	D	0	-22.601	20.6087	0.99469	0.0:0.0:1.0:0.0	.	211;197;197;197	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	R	197;211;17;197	ENSP00000216194:G197R;ENSP00000390107:G211R;ENSP00000341429:G197R	ENSP00000216194:G197R	G	+	1	0	ADSL	39084920	1.000000	0.71417	0.772000	0.31596	0.992000	0.81027	8.972000	0.93424	2.866000	0.98385	0.650000	0.86243	GGA		0.512	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		7	317	0	0	0	1	0	7	317					A	40754974	G	A	40754974	3	1	79	1	0	0	0	0	1	0	0	0	346	1233	43	2	607	2	ADSL	22	40754974	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5864	40754974	10549592	21035	31352											
SGSM3	57591	broad.mit.edu	37	chr22	40803436	40803436	+	IGR	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgactccagactataGcatggagagccaccagcggg	14	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40803436G>T	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Missense_Mutation_p.S396I|SGSM3_ENST00000248929.9_Missense_Mutation_p.S463I	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCAGACTATAGCATGGAGAGC	0.642			T	RBM15	acute megakaryocytic leukemia																																	ENST00000248929.9				Dom	yes		22	22q13	57591		megakaryoblastic leukemia (translocation) 1			L					0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1387-1389)aGc>aTc		small G protein signaling modulator 3							30	32	31					22																	40803436		2202	4300	6502	SO:0001628	intergenic_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40803436G>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40803436G>T						SGSM3_ENST00000454798.2_Missense_Mutation_p.S396I	p.S463I	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			13	1577	+			463					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.1388G>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156447	0.78114	.	.	ENSG00000100359	ENST00000248929;ENST00000454798	T;T	0.17054	2.42;2.3	5.47	4.42	0.53409	.	0.366542	0.33075	N	0.005301	T	0.36468	0.0968	M	0.69358	2.11	0.53688	D	0.999976	P;B;P;P	0.48911	0.644;0.415;0.917;0.899	B;B;P;P	0.58873	0.426;0.426;0.847;0.703	T	0.11421	-1.0588	10	0.87932	D	0	.	15.1679	0.72842	0.0:0.2691:0.7309:0.0	.	400;396;491;463	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	I	463;396	ENSP00000248929:S463I;ENSP00000390998:S396I	ENSP00000248929:S463I	S	+	2	0	SGSM3	39133382	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.255000	0.58804	2.582000	0.87167	0.555000	0.69702	AGC		0.642	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		55	231	1	0	7.89702e-26	1	9.07718e-26	55	231					T	40803436	G	T	40803436	1	4	79	0	1	0	0	0	0	0	0	0	14274	971	34	3		3	SGSM3	22	40803436	IGR	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48462	40803436	10501130	21036	31353											
MKL1	57591	broad.mit.edu	37	chr22	40814828	40814828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctgccggagcatgcgCgtcagcgcctcgatctgctt	12	14	3	0	rs373988834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40814828C>T	ENST00000355630.3	-	12	2204	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000396617.3_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	538					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						GGAGCATGCGCGTCAGCGCCT	0.706			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(1612-1614)acG>acA		megakaryoblastic leukemia (translocation) 1		C		1,4399		0,1,2199	16	18	18		1614	-9.6	0.5	22		18	0,8586		0,0,4293	no	coding-synonymous	MKL1	NM_020831.3		0,1,6492	TT,TC,CC		0.0,0.0227,0.0077		538/932	40814828	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40814828C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.1614G>A	22.37:g.40814828C>T						MKL1_ENST00000407029.1_Silent_p.T538T|MKL1_ENST00000355630.3_Silent_p.T538T|MKL1_ENST00000402042.1_Silent_p.T488T	p.T538T			Q969V6	MKL1_HUMAN			12	2204	-			538					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.1614G>A	CCDS14003.1																																																																																				0.706	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		42	178	0	0	0	1	0	42	178					T	40814828	C	T	40814828	2	4	79	1	0	0	0	0	0	0	0	1	9642	755	27	1		1	MKL1	22	40814828	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	11392	40814828	10489738	21037	31354											
MKL1	57591	broad.mit.edu	37	chr22	40817021	40817021	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggatgtactggtggtaCttgagcttcttcacctttgg	15	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40817021C>T	ENST00000355630.3	-	10	1301	c.711G>A	c.(709-711)aaG>aaA	p.K237K	MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000396617.3_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	237	Mediates interaction with SCAI and ACTB. {ECO:0000250}.				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						ACTGGTGGTACTTGAGCTTCT	0.592			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(709-711)aaG>aaA		megakaryoblastic leukemia (translocation) 1							138	117	124					22																	40817021		2203	4300	6503	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40817021C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.711G>A	22.37:g.40817021C>T						MKL1_ENST00000407029.1_Silent_p.K237K|MKL1_ENST00000355630.3_Silent_p.K237K|MKL1_ENST00000402042.1_Silent_p.K187K	p.K237K			Q969V6	MKL1_HUMAN			10	1301	-			237			Mediates interaction with SCAI and ACTB (By similarity).		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Silent	SNP	ENST00000355630.3	37	c.711G>A	CCDS14003.1																																																																																				0.592	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		71	316	0	0	0	1	0	71	316					T	40817021	C	T	40817021	2	4	79	1	0	0	0	0	0	0	0	1	9642	564	20	2		2	MKL1	22	40817021	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2193	40817021	10487545	21038	31355											
MCHR1	2847	broad.mit.edu	37	chr22	41076968	41076968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggatcacctcctcgcaCggggagcatctcctacatca	8	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41076968C>T	ENST00000249016.4	+	2	1001	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.T102M	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	102					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						CCTCCTCGCACGGGGAGCATC	0.577																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(304-306)aCg>aTg		melanin-concentrating hormone receptor 1							126	97	107					22																	41076968		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41076968C>T		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.305C>T	22.37:g.41076968C>T	ENSP00000249016:p.Thr102Met					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.T102M	p.T102M	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1001	+			102					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.305C>T	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	2.616	-0.289617	0.05568	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.37235	1.21;1.21	5.36	-0.573	0.11742	.	0.861856	0.10258	N	0.696279	T	0.20333	0.0489	N	0.19112	0.55	0.09310	N	1	B	0.33904	0.431	B	0.29785	0.107	T	0.14117	-1.0484	10	0.46703	T	0.11	.	7.7707	0.29006	0.0:0.4767:0.3778:0.1455	.	102	Q99705	MCHR1_HUMAN	M	102	ENSP00000249016:T102M;ENSP00000370841:T102M	ENSP00000249016:T102M	T	+	2	0	MCHR1	39406914	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.479000	0.06567	-0.150000	0.11195	-0.165000	0.13383	ACG		0.577	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		53	279	0	0	0	1	0	53	279					T	41076968	C	T	41076968	3	4	79	1	0	0	0	0	1	0	0	0	9423	536	19	1	311	1	MCHR1	22	41076968	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	259947	41076968	10227598	21039	31356											
MCHR1	2847	broad.mit.edu	37	chr22	41077050	41077050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatcatcgggaactccacGgtcatcttcgcggtcgtgaa	12	12	3	1	rs201582299		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41077050G>A	ENST00000249016.4	+	2	1083	c.387G>A	c.(385-387)acG>acA	p.T129T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.T129T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	129					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						GGAACTCCACGGTCATCTTCG	0.552																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(385-387)acG>acA		melanin-concentrating hormone receptor 1							161	128	139					22																	41077050		2203	4300	6503	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077050G>A		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.387G>A	22.37:g.41077050G>A						MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Silent_p.T129T	p.T129T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1083	+			129					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Silent	SNP	ENST00000249016.4	37	c.387G>A	CCDS14004.1																																																																																				0.552	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		71	339	0	0	0	1	0	71	339					A	41077050	G	A	41077050	2	1	79	1	0	0	0	0	0	0	0	1	9423	1103	39	1		1	MCHR1	22	41077050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82	41077050	10227516	21040	31357											
SLC25A17	10478	broad.mit.edu	37	chr22	41166939	41166939	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agcagtgaggactgtctgcaGcagtttggcttcaaggcctt	13	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41166939G>T	ENST00000435456.2	-	9	956	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	SLC25A17_ENST00000402844.3_Missense_Mutation_p.L193M|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	275	Necessary for targeting to peroxisomes and interaction with PEX19.				ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTGTCTGCAGCAGTTTGGCT	0.468																																						ENST00000402844.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						c.(577-579)Ctg>Atg		solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17							213	210	211					22																	41166939		2203	4300	6503	SO:0001583	missense	10478				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding	g.chr22:41166939G>T	Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"Solute carriers"	10987	protein-coding gene	gene with protein product	"peroxisomal membrane protein (34kD)"	606795	"solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.823C>A	22.37:g.41166939G>T	ENSP00000390722:p.Leu275Met					SLC25A17_ENST00000544408.1_Missense_Mutation_p.L238M|SLC25A17_ENST00000435456.2_Missense_Mutation_p.L275M|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.L202M	p.L193M			O43808	PM34_HUMAN			5	1557	-			275					A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	c.577C>A	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225570	0.79576	.	.	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.38	4.37	0.52481	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.97	D;D;D	0.74023	0.982;0.926;0.953	D	0.87229	0.2259	10	0.44086	T	0.13	-8.0327	10.5191	0.44907	0.1481:0.0:0.8519:0.0	.	202;238;275	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	M	275;193;238;202	ENSP00000390722:L275M;ENSP00000385303:L193M;ENSP00000438355:L238M;ENSP00000446471:L202M	ENSP00000385303:L193M	L	-	1	2	SLC25A17	39496885	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	6.771000	0.74996	1.421000	0.47157	0.655000	0.94253	CTG		0.468	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358		182	915	1	0	1.95521e-66	1	2.4743e-66	182	915					T	41166939	G	T	41166939	3	4	79	1	0	0	0	0	1	0	0	0	14529	962	34	3	104	3	SLC25A17	22	41166939	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	89889	41166939	10137627	21041	31358											
ST13	6767	broad.mit.edu	37	chr22	41252472	41252472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcgcatttcctcggTgtgcagaacgctcggatcct	12	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41252472T>C	ENST00000216218.3	-	1	554	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	XPNPEP3_ENST00000414396.1_5'Flank|XPNPEP3_ENST00000541156.1_5'Flank|XPNPEP3_ENST00000357137.4_5'Flank	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	25					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATTTCCTCGGTGTGCAGAACG	0.642																																						ENST00000216218.3																			0				cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(73-75)Acc>Gcc		suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)							60	64	62					22																	41252472		2203	4300	6503	SO:0001583	missense	6767						protein binding, bridging	g.chr22:41252472T>C		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"Tetratricopeptide (TTC) repeat domain containing"	11343	protein-coding gene	gene with protein product	"progesterone receptor-associated p48 protein"	606796	"suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.73A>G	22.37:g.41252472T>C	ENSP00000216218:p.Thr25Ala						p.T25A	NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN			1	554	-			25					O14999|Q2TU77	Missense_Mutation	SNP	ENST00000216218.3	37	c.73A>G	CCDS14006.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.529592	0.44969	.	.	ENSG00000100380	ENST00000216218;ENST00000542699;ENST00000401032	T	0.16597	2.33	5.52	4.49	0.54785	.	0.387108	0.32578	N	0.005907	T	0.13970	0.0338	L	0.55743	1.74	0.29955	N	0.819911	B;B	0.10296	0.003;0.0	B;B	0.11329	0.006;0.0	T	0.28586	-1.0039	10	0.08381	T	0.77	.	7.7736	0.29023	0.0:0.162:0.0:0.838	.	25;25	B4E0U6;P50502	.;F10A1_HUMAN	A	25	ENSP00000216218:T25A	ENSP00000216218:T25A	T	-	1	0	ST13	39582418	0.974000	0.33945	1.000000	0.80357	0.985000	0.73830	0.256000	0.18351	1.115000	0.41800	0.460000	0.39030	ACC		0.642	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		92	500	0	0	0	1	0	92	500					C	41252472	T	C	41252472	3	2	79	1	0	0	0	0	1	0	0	0	15262	1696	59	4	1084	4	ST13	22	41252472	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	85533	41252472	10052094	21042	31359											
DNAJB7	150353	broad.mit.edu	37	chr22	41257476	41257476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catcccactattatcaaaagCcagggaagagaaagaagtaa	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41257476C>T	ENST00000307221.4	-	1	654	c.523G>A	c.(523-525)Gct>Act	p.A175T	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	175							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTATCAAAAGCCAGGGAAGAG	0.338																																						ENST00000307221.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(523-525)Gct>Act		DnaJ (Hsp40) homolog, subfamily B, member 7							88	90	89					22																	41257476		2203	4300	6503	SO:0001583	missense	150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41257476C>T	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.523G>A	22.37:g.41257476C>T	ENSP00000307197:p.Ala175Thr					XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	p.A175T	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN			1	654	-			175					Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	ENST00000307221.4	37	c.523G>A	CCDS14008.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858335	0.17178	.	.	ENSG00000172404	ENST00000307221	T	0.45668	0.89	4.7	-4.54	0.03452	.	1.106060	0.07028	N	0.827902	T	0.27765	0.0683	L	0.50333	1.59	0.23776	N	0.996874	B	0.33777	0.425	B	0.30572	0.117	T	0.20907	-1.0261	10	0.21540	T	0.41	.	3.4648	0.07545	0.5679:0.1768:0.1058:0.1495	.	175	Q7Z6W7	DNJB7_HUMAN	T	175	ENSP00000307197:A175T	ENSP00000307197:A175T	A	-	1	0	DNAJB7	39587422	0.844000	0.29557	0.002000	0.10522	0.129000	0.20672	1.122000	0.31295	-0.659000	0.05359	-0.282000	0.10007	GCT		0.338	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	NM_145174		113	480	0	0	0	1	0	113	480					T	41257476	C	T	41257476	3	4	79	1	0	0	0	0	1	0	0	0	4641	739	26	2	410	2	DNAJB7	22	41257476	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5004	41257476	10047090	21043	31360											
XPNPEP3	63929	broad.mit.edu	37	chr22	41282489	41282489	+	Silent	SNP	A	A	C													tctcctgcagaaattgaacgAatgcagattgctgggaagct							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282489A>C	ENST00000357137.4	+	4	846	c.762A>C	c.(760-762)cgA>cgC	p.R254R	XPNPEP3_ENST00000414396.1_Silent_p.R254R|XPNPEP3_ENST00000544094.1_Silent_p.R231R|XPNPEP3_ENST00000541156.1_Silent_p.R254R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	254					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						AAATTGAACGAATGCAGATTG	0.522																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(760-762)cgA>cgC		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							77	80	79					22																	41282489		2203	4300	6503	SO:0001819	synonymous_variant	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41282489A>C		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.762A>C	22.37:g.41282489A>C						XPNPEP3_ENST00000541156.1_Silent_p.R254R|XPNPEP3_ENST00000414396.1_Silent_p.R254R|XPNPEP3_ENST00000544094.1_Silent_p.R231R	p.R254R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			4	846	+			254					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Silent	SNP	ENST00000357137.4	37	c.762A>C	CCDS14007.1																																																																																				0.522	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		76	337	0	0	0	1	0	76	337					C	41282489	A	C	41282489	2	2	79	1	0	0	0	0	0	0	0	1	17498	233	9	4		4	XPNPEP3	22	41282489	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	25013	41282489	10022077	21044	31361	206	2									
XPNPEP3	63929	broad.mit.edu	37	chr22	41282496	41282496	+	Missense_Mutation	SNP	A	A	G													cagaaattgaacgaatgcagAttgctgggaagctgacatca							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282496A>G	ENST00000357137.4	+	4	853	c.769A>G	c.(769-771)Att>Gtt	p.I257V	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	257					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						ACGAATGCAGATTGCTGGGAA	0.527																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(769-771)Att>Gtt		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							74	78	76					22																	41282496		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41282496A>G		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.769A>G	22.37:g.41282496A>G	ENSP00000349658:p.Ile257Val					XPNPEP3_ENST00000541156.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.I257V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.I234V	p.I257V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			4	853	+			257					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.769A>G	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002692	0.35320	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T	0.76186	-1.0;-1.0	5.74	0.825	0.18824	Peptidase M24, structural domain (3);	0.518896	0.22027	N	0.065658	T	0.52613	0.1745	N	0.16233	0.39	0.26831	N	0.968589	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.004	T	0.37478	-0.9704	10	0.36615	T	0.2	.	6.5065	0.22198	0.6254:0.1244:0.2502:0.0	.	257;257	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	V	257;257;257;234	ENSP00000349658:I257V;ENSP00000441942:I234V	ENSP00000349658:I257V	I	+	1	0	XPNPEP3	39612442	0.889000	0.30405	0.998000	0.56505	0.997000	0.91878	1.347000	0.33975	0.103000	0.17682	0.455000	0.32223	ATT		0.527	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		82	299	0	0	0	1	0	82	299					G	41282496	A	G	41282496	3	3	79	1	0	0	0	0	1	0	0	0	17498	333	12	4	783	4	XPNPEP3	22	41282496	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	7	41282496	10022070	21045	31362	206	2									
EP300	2033	broad.mit.edu	37	chr22	41513320	41513320	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatggtacaagatgcagCttctaaacataaacagctgt	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41513320C>T	ENST00000263253.7	+	2	1443	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	75	Interaction with ALX1.|Interaction with RORA.				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						CAAGATGCAGCTTCTAAACAT	0.458			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(223-225)gCt>gTt		E1A binding protein p300							116	108	111					22																	41513320		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41513320C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.224C>T	22.37:g.41513320C>T	ENSP00000263253:p.Ala75Val						p.A75V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			2	1443	+			75			Interaction with ALX1.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.224C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957203	0.92726	.	.	ENSG00000100393	ENST00000263253	D	0.84370	-1.84	5.98	5.98	0.97165	.	0.000000	0.48286	D	0.000193	D	0.89462	0.6722	L	0.55213	1.73	0.58432	D	0.999998	P	0.51147	0.942	P	0.57244	0.816	D	0.86223	0.1632	10	0.30078	T	0.28	-7.1964	20.4581	0.99154	0.0:1.0:0.0:0.0	.	75	Q09472	EP300_HUMAN	V	75	ENSP00000263253:A75V	ENSP00000263253:A75V	A	+	2	0	EP300	39843266	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.074000	0.50065	2.835000	0.97688	0.650000	0.86243	GCT		0.458	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		109	342	0	0	0	1	0	109	342					T	41513320	C	T	41513320	3	4	79	1	0	0	0	0	1	0	0	0	5166	797	28	2	230	2	EP300	22	41513320	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230824	41513320	9791246	21046	31363											
EP300	2033	broad.mit.edu	37	chr22	41572357	41572357	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgatggatggtcgggatgCgtttctcacgctggcaaggg	16	8	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41572357C>T	ENST00000263253.7	+	30	6105	c.4886C>T	c.(4885-4887)gCg>gTg	p.A1629V	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1629	Binding region for E1A adenovirus.|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)	p.A1629V(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGTCGGGATGCGTTTCTCACG	0.582			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		2	Substitution - Missense(2)	p.A1629V(2)	large_intestine(1)|endometrium(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						c.(4885-4887)gCg>gTg		E1A binding protein p300							119	100	106					22																	41572357		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572357C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4886C>T	22.37:g.41572357C>T	ENSP00000263253:p.Ala1629Val					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.A1629V	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			30	6105	+			1629			Binding region for E1A adenovirus.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4886C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602581	0.66445	.	.	ENSG00000100393	ENST00000263253	D	0.86366	-2.11	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000193	D	0.94801	0.8321	M	0.90252	3.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.95684	0.8734	10	0.87932	D	0	-8.2919	18.7274	0.91718	0.0:1.0:0.0:0.0	.	1629	Q09472	EP300_HUMAN	V	1629	ENSP00000263253:A1629V	ENSP00000263253:A1629V	A	+	2	0	EP300	39902303	1.000000	0.71417	0.990000	0.47175	0.701000	0.40568	7.818000	0.86416	2.500000	0.84329	0.650000	0.86243	GCG		0.582	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		112	444	0	0	0	1	0	112	444					T	41572357	C	T	41572357	3	4	79	1	0	0	0	0	1	0	0	0	5166	768	27	1	5004	1	EP300	22	41572357	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59037	41572357	9732209	21047	31364											
EP300	2033	broad.mit.edu	37	chr22	41574502	41574502	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctacaggcctatcagcagCgactccttcagcaacagatg	9	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41574502C>T	ENST00000263253.7	+	31	8006	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2263					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						CTATCAGCAGCGACTCCTTCA	0.577			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6787-6789)Cga>Tga		E1A binding protein p300							102	105	104					22																	41574502		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574502C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6787C>T	22.37:g.41574502C>T	ENSP00000263253:p.Arg2263*					RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	p.R2263*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			31	8006	+			2263					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.6787C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	52	19.910876	0.99925	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	2.03	0.26663	.	0.000000	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-7.9992	10.9807	0.47492	0.3487:0.5422:0.1091:0.0	.	.	.	.	X	2263	.	ENSP00000263253:R2263X	R	+	1	2	EP300	39904448	0.685000	0.27652	0.997000	0.53966	0.955000	0.61496	0.242000	0.18087	0.671000	0.31185	-0.941000	0.02677	CGA		0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		26	387	0	0	0	1	0	26	387					T	41574502	C	T	41574502	4	4	79	1	0	0	0	0	0	1	0	0	5166	760	27	1	6909	1	EP300	22	41574502	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2145	41574502	9730064	21048	31365											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620065	41620065	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttaggcagggcatgcgGctggaagtggtggacaagtc	16	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41620065G>A	ENST00000216237.5	+	9	1142	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCATGCGGCTGGAAGTGG	0.597																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(982-984)cgG>cgA		l(3)mbt-like 2 (Drosophila)							118	79	92					22																	41620065		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41620065G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.984G>A	22.37:g.41620065G>A							p.R328R	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			9	1142	+			328					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.984G>A	CCDS14011.1																																																																																				0.597	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		7	350	0	0	0	1	0	7	350					A	41620065	G	A	41620065	2	1	79	1	0	0	0	0	0	0	0	1	8623	1190	42	2		2	L3MBTL2	22	41620065	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	45563	41620065	9684501	21049	31366											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621043	41621043	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggccattgaccccctgaatCtgggcaacatctgcgtggca	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41621043C>A	ENST00000216237.5	+	11	1482	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	442					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCTGAATCTGGGCAACAT	0.587																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1324-1326)Ctg>Atg		l(3)mbt-like 2 (Drosophila)							161	152	155					22																	41621043		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41621043C>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1324C>A	22.37:g.41621043C>A	ENSP00000216237:p.Leu442Met						p.L442M	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			11	1482	+			442					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.1324C>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222340	0.79464	.	.	ENSG00000100395	ENST00000216237	T	0.32023	1.47	5.52	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.89095	3.005	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.55823	-0.8080	10	0.34782	T	0.22	.	10.1344	0.42697	0.0:0.7279:0.0:0.2721	.	442;442	Q969R5-3;Q969R5	.;LMBL2_HUMAN	M	442	ENSP00000216237:L442M	ENSP00000216237:L442M	L	+	1	2	L3MBTL2	39950989	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.353000	0.34045	0.312000	0.23038	0.561000	0.74099	CTG		0.587	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		81	376	1	0	1.51188e-25	1	1.73552e-25	81	376					A	41621043	C	A	41621043	3	1	79	1	0	0	0	0	1	0	0	0	8623	912	32	3	1366	3	L3MBTL2	22	41621043	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	978	41621043	9683523	21050	31367											
RANGAP1	5905	broad.mit.edu	37	chr22	41645753	41645753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgagcagacccatgtgcaCgagcagcctggtgaggaagg	15	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41645753C>T	ENST00000455915.2	-	13	3021	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	518					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCATGTGCACGAGCAGCCTG	0.627																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1552-1554)Gtg>Atg		Ran GTPase activating protein 1							157	119	132					22																	41645753		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41645753C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1552G>A	22.37:g.41645753C>T	ENSP00000401470:p.Val518Met					RANGAP1_ENST00000405486.1_Missense_Mutation_p.V518M|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V518M|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V463M	p.V518M			P46060	RAGP1_HUMAN			13	3021	-			518					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1552G>A	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673521	0.47781	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	T;T;T;T	0.56611	0.45;0.45;0.45;0.85	5.8	-0.104	0.13605	Ran-GTPase activating protein 1, C-terminal (3);	0.458253	0.25241	N	0.032087	T	0.63189	0.2490	M	0.62723	1.935	0.21147	N	0.999778	D;D	0.76494	0.999;0.995	P;D	0.63488	0.839;0.915	T	0.58912	-0.7552	10	0.87932	D	0	-8.7803	11.557	0.50755	0.0:0.4446:0.0:0.5554	.	463;518	F8W7I9;P46060	.;RAGP1_HUMAN	M	518;518;518;518;463	ENSP00000385866:V518M;ENSP00000348577:V518M;ENSP00000401470:V518M;ENSP00000385354:V463M	ENSP00000348577:V518M	V	-	1	0	RANGAP1	39975699	0.978000	0.34361	0.729000	0.30791	0.083000	0.17756	0.350000	0.20079	-0.048000	0.13401	0.655000	0.94253	GTG		0.627	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		48	225	0	0	0	1	0	48	225					T	41645753	C	T	41645753	3	4	79	1	0	0	0	0	1	0	0	0	13083	536	19	1	223	1	RANGAP1	22	41645753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24710	41645753	9658813	21051	31368											
RANGAP1	5905	broad.mit.edu	37	chr22	41650402	41650402	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttcctcctcctcctcCtcttcttcctcctcttcctc	0	22	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650402C>A	ENST00000455915.2	-	10	2639	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaT		Ran GTPase activating protein 1							233	159	184					22																	41650402		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>A	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>T	22.37:g.41650402C>A	ENSP00000401470:p.Glu390Asp					RANGAP1_ENST00000405486.1_Missense_Mutation_p.E390D|RANGAP1_ENST00000356244.3_Missense_Mutation_p.E390D|RANGAP1_ENST00000407260.4_Missense_Mutation_p.E335D	p.E390D			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1170G>T	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	9.672	1.147037	0.21288	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	4.39	-6.97	0.01616	Armadillo-like helical (1);	0.774989	0.12248	N	0.485859	D	0.87321	0.6148	L	0.56769	1.78	0.43480	D	0.995701	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.002	T	0.63042	-0.6725	10	0.22706	T	0.39	-3.7269	7.3865	0.26884	0.0:0.4191:0.1138:0.4671	.	335;390	F8W7I9;P46060	.;RAGP1_HUMAN	D	390;390;390;390;335	ENSP00000385866:E390D;ENSP00000348577:E390D;ENSP00000401470:E390D;ENSP00000385354:E335D	ENSP00000348577:E390D	E	-	3	2	RANGAP1	39980348	0.000000	0.05858	0.489000	0.27452	0.024000	0.10985	-5.147000	0.00147	-1.197000	0.02673	-1.327000	0.01280	GAG		0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		43	250	1	0	8.16277e-20	1	9.1228e-20	43	250					A	41650402	C	A	41650402	3	1	79	1	0	0	0	0	1	0	0	0	13083	680	24	3	617	3	RANGAP1	22	41650402	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4649	41650402	9654164	21052	31369											
RANGAP1	5905	broad.mit.edu	37	chr22	41650462	41650462	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcctcttcttcctcTtctccttcctcctcctcctc	1	21	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650462T>C	ENST00000455915.2	-	10	2579	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	370	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cttcttcctcttctccttcct	0.567																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1108-1110)gaA>gaG		Ran GTPase activating protein 1							157	128	138					22																	41650462		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650462T>C	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"segregation distorter homolog (Drosophila)"	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1110A>G	22.37:g.41650462T>C						RANGAP1_ENST00000405486.1_Silent_p.E370E|RANGAP1_ENST00000356244.3_Silent_p.E370E|RANGAP1_ENST00000407260.4_Silent_p.E315E	p.E370E			P46060	RAGP1_HUMAN			10	2579	-			370			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1110A>G	CCDS14012.1																																																																																				0.567	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		105	454	0	0	0	1	0	105	454					C	41650462	T	C	41650462	2	2	79	1	0	0	0	0	0	0	0	1	13083	1606	56	4		4	RANGAP1	22	41650462	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	60	41650462	9654104	21053	31370											
ZC3H7B	23264	broad.mit.edu	37	chr22	41723231	41723231	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcctgtatgagaaggcgctgGaggacagcgagaaggcgctg	18	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41723231G>T	ENST00000352645.4	+	5	564	c.307G>T	c.(307-309)Gag>Tag	p.E103*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	103					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						GAAGGCGCTGGAGGACAGCGA	0.627																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(307-309)Gag>Tag		zinc finger CCCH-type containing 7B							109	86	94					22																	41723231		2203	4300	6503	SO:0001587	stop_gained	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41723231G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.307G>T	22.37:g.41723231G>T	ENSP00000345793:p.Glu103*					ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.E103*	p.E103*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			5	564	+			103					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Nonsense_Mutation	SNP	ENST00000352645.4	37	c.307G>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.157690	0.97334	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.27	5.27	0.74061	.	0.052170	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-34.2907	18.8953	0.92421	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000263243:E103X	E	+	1	0	ZC3H7B	40053177	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	3.577000	0.53885	2.457000	0.83068	0.491000	0.48974	GAG		0.627	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		92	437	1	0	6.78028e-52	1	8.425e-52	92	437					T	41723231	G	T	41723231	4	4	79	1	0	0	0	0	0	1	0	0	17626	1175	41	3	321	3	ZC3H7B	22	41723231	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72769	41723231	9581335	21054	31371											
ZC3H7B	23264	broad.mit.edu	37	chr22	41742154	41742154	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggggggtgttaagcgcggcaGcctcaccatcgccaagctcc	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41742154G>T	ENST00000352645.4	+	14	1864	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	552					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						AAGCGCGGCAGCCTCACCATC	0.647																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1606-1608)aGc>aTc		zinc finger CCCH-type containing 7B							100	80	87					22																	41742154		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41742154G>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1607G>T	22.37:g.41742154G>T	ENSP00000345793:p.Ser536Ile					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S536I	p.S536I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			14	1864	+			552					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1607G>T	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156390	0.57259	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.22539	1.95;1.95	5.36	4.28	0.50868	.	0.141156	0.64402	D	0.000007	T	0.20088	0.0483	L	0.46157	1.445	0.35808	D	0.823633	B	0.32731	0.382	B	0.35813	0.211	T	0.18461	-1.0336	10	0.56958	D	0.05	-32.0039	9.3375	0.38060	0.0788:0.145:0.7762:0.0	.	536	Q9UGR2-2	.	I	536	ENSP00000345793:S536I;ENSP00000263243:S536I	ENSP00000263243:S536I	S	+	2	0	ZC3H7B	40072100	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.625000	0.46452	2.523000	0.85059	0.555000	0.69702	AGC		0.647	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		91	456	1	0	6.07207e-39	1	7.33261e-39	91	456					T	41742154	G	T	41742154	3	4	79	1	0	0	0	0	1	0	0	0	17626	971	34	3	1657	3	ZC3H7B	22	41742154	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18923	41742154	9562412	21055	31372											
ZC3H7B	23264	broad.mit.edu	37	chr22	41747608	41747608	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagtctaagaagtactgGcagcagatggaggcgcatgc	15	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41747608G>A	ENST00000352645.4	+	17	2249	c.1992G>A	c.(1990-1992)tgG>tgA	p.W664*	ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	680					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						AGAAGTACTGGCAGCAGATGG	0.532																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1990-1992)tgG>tgA		zinc finger CCCH-type containing 7B							58	50	53					22																	41747608		2203	4300	6503	SO:0001587	stop_gained	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41747608G>A		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.1992G>A	22.37:g.41747608G>A	ENSP00000345793:p.Trp664*					ZC3H7B_ENST00000351589.4_Nonsense_Mutation_p.W664*	p.W664*	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			17	2249	+			680					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Nonsense_Mutation	SNP	ENST00000352645.4	37	c.1992G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	41	8.652374	0.98901	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	.	.	.	5.49	5.49	0.81192	.	0.112513	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8488	19.4218	0.94725	0.0:0.0:1.0:0.0	.	.	.	.	X	664	.	ENSP00000263243:W664X	W	+	3	0	ZC3H7B	40077554	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.413000	0.97351	2.593000	0.87608	0.456000	0.33151	TGG		0.532	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		22	118	0	0	0	1	0	22	118					A	41747608	G	A	41747608	4	1	79	1	0	0	0	0	0	1	0	0	17626	1212	42	2	2054	2	ZC3H7B	22	41747608	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5454	41747608	9556958	21056	31373											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753416	41753416	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgctgctgctgccaccGccaccactggggagtagggc	13	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41753416G>A	ENST00000352645.4	+	23	3174	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0					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						TGCTGCCACCGCCACCACTGG	0.662																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2917-2919)Gcc>Acc		zinc finger CCCH-type containing 7B																																				SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753416G>A		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.2917G>A	22.37:g.41753416G>A	ENSP00000345793:p.Ala973Thr					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.A973T	p.A973T	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3174	+			989					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.2917G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905514	0.17760	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.12039	2.72;2.72	4.48	-8.95	0.00765	.	1.536640	0.03786	N	0.262041	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28202	-1.0051	9	0.15499	T	0.54	-0.9031	6.3307	0.21269	0.5147:0.0:0.2934:0.1919	.	973	Q9UGR2-2	.	T	973	ENSP00000345793:A973T;ENSP00000263243:A973T	ENSP00000263243:A973T	A	+	1	0	ZC3H7B	40083362	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.164000	0.09983	-2.096000	0.00852	-1.842000	0.00583	GCC		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		143	611	0	0	0	1	0	143	611					A	41753416	G	A	41753416	3	1	79	1	0	0	0	0	1	0	0	0	17626	1087	38	1	3003	1	ZC3H7B	22	41753416	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5808	41753416	9551150	21057	31374											
TEF	7008	broad.mit.edu	37	chr22	41790200	41790200	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaccccgccgacctggtgctCtccagtgtgccaggcgggga	15	15	1	0	rs201504261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41790200C>T	ENST00000266304.4	+	3	692	c.576C>T	c.(574-576)ctC>ctT	p.L192L	TEF_ENST00000406644.3_Silent_p.L162L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	192	Pro-rich (proline/acidic region (PAR)).				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGGTGCTCTCCAGTGTGC	0.567																																						ENST00000266304.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(574-576)ctC>ctT		thyrotrophic embryonic factor							79	81	80					22																	41790200		2203	4300	6503	SO:0001819	synonymous_variant	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41790200C>T		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"basic leucine zipper proteins"	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.576C>T	22.37:g.41790200C>T						TEF_ENST00000406644.3_Silent_p.L162L	p.L192L	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN			3	692	+			192			Pro-rich (proline/acidic region (PAR)).		B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Silent	SNP	ENST00000266304.4	37	c.576C>T	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325398	0.24080	.	.	ENSG00000167074	ENST00000413942	.	.	.	5.78	0.71	0.18157	.	.	.	.	.	T	0.65893	0.2735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63839	-0.6546	4	.	.	.	-30.8495	13.1516	0.59492	0.0988:0.4108:0.4905:0.0	.	.	.	.	F	158	.	.	S	+	2	0	TEF	40120146	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	0.219000	0.17641	0.374000	0.24650	0.655000	0.94253	TCT		0.567	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		84	491	0	0	0	1	0	84	491					T	41790200	C	T	41790200	2	4	79	1	0	0	0	0	0	0	0	1	15802	900	32	2		2	TEF	22	41790200	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36784	41790200	9514366	21058	31375											
XRCC6	2547	broad.mit.edu	37	chr22	42033677	42033677	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acatatccttgttctacagaGatatcatcagcatagcagag	7	9	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42033677G>T	ENST00000359308.4	+	5	1310	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y|XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	219					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						GTTCTACAGAGATATCATCAG	0.488								Non-homologous end-joining																														ENST00000359308.4																			0				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						c.(655-657)Gat>Tat	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							39	33	35					22																	42033677		2203	4298	6501	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42033677G>T	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.655G>T	22.37:g.42033677G>T	ENSP00000352257:p.Asp219Tyr					XRCC6_ENST00000428575.2_Missense_Mutation_p.D86Y|XRCC6_ENST00000405878.1_Missense_Mutation_p.D219Y|XRCC6_ENST00000360079.3_Missense_Mutation_p.D219Y|XRCC6_ENST00000405506.1_Missense_Mutation_p.D169Y|XRCC6_ENST00000402580.3_Missense_Mutation_p.D178Y	p.D219Y			P12956	XRCC6_HUMAN			5	1310	+			219					B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.655G>T	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842693	0.91197	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.74	5.74	0.90152	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;0.983;1.0;0.988	D	0.86954	0.2087	9	0.87932	D	0	-24.6149	19.9357	0.97140	0.0:0.0:1.0:0.0	.	169;219;178;219	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	Y	219;178;86;219;219;219;169	.	ENSP00000352257:D219Y	D	+	1	0	XRCC6	40363623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.209000	0.95087	2.715000	0.92844	0.655000	0.94253	GAT		0.488	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		15	99	1	0	2.32078e-09	1	2.442e-09	15	99					T	42033677	G	T	42033677	3	4	79	1	0	0	0	0	1	0	0	0	17511	942	33	3	673	3	XRCC6	22	42033677	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	243477	42033677	9270889	21059	31376											
MEI1	79640	broad.mit.edu	37	chr22	42095601	42095601	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccaggagagaggaagaggCggcgcttctattcgagaggg	18	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42095601C>T	ENST00000402966.1	+	0	4975				MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000401548.3_Missense_Mutation_p.A20V|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_001142964.1	NP_001136436.1	C9J442	CV046_HUMAN	chromosome 22 open reading frame 46							extracellular region (GO:0005576)		p.A20V(1)									GAGGAAGAGGCGGCGCTTCTA	0.721																																						ENST00000401548.3																			1	Substitution - Missense(1)	p.A20V(1)	upper_aerodigestive_tract(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						c.(58-60)gCg>gTg		meiosis inhibitor 1							17	25	22					22																	42095601		1956	4123	6079	SO:0001628	intergenic_variant	150365						binding	g.chr22:42095601C>T	BC007210	CCDS46717.1	22q13.2	2011-01-25			ENSG00000184208	ENSG00000184208			26294	protein-coding gene	gene with protein product						12477932	Standard	NM_001142964		Approved	FLJ23584, CTA-216E10.6	uc003bax.1	C9J442	OTTHUMG00000151188		22.37:g.42095601C>T						MEI1_ENST00000540833.1_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	p.A20V	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			1	99	+			20						Missense_Mutation	SNP	ENST00000402966.1	37	c.59C>T	CCDS46717.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005677	0.35415	.	.	ENSG00000167077	ENST00000401548	T	0.19532	2.14	4.56	4.56	0.56223	.	0.316936	0.26738	N	0.022749	T	0.18425	0.0442	L	0.54323	1.7	0.80722	D	1	P;P	0.43287	0.802;0.802	B;B	0.35182	0.197;0.197	T	0.02567	-1.1140	10	0.66056	D	0.02	.	9.9904	0.41868	0.2018:0.7982:0.0:0.0	.	20;20	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	V	20	ENSP00000384115:A20V	ENSP00000384115:A20V	A	+	2	0	MEI1	40425547	0.923000	0.31300	1.000000	0.80357	0.053000	0.15095	2.154000	0.42291	2.366000	0.80165	0.467000	0.42956	GCG		0.721	C22orf46-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321678.2	NM_024588		12	186	0	0	0	1	0	12	186					T	42095601	C	T	42095601	1	4	79	0	1	0	0	0	0	0	0	0	9506	768	27	1		1	MEI1	22	42095601	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	61924	42095601	9208965	21060	31377											
MEI1	150365	broad.mit.edu	37	chr22	42128307	42128307	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagatgaacaacatagagctGcacaagcagggcctgctgct	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128307G>A	ENST00000401548.3	+	10	1195	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	MEI1_ENST00000540833.1_Silent_p.L125L|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						ACATAGAGCTGCACAAGCAGG	0.557																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1153-1155)ctG>ctA		meiosis inhibitor 1							62	69	67					22																	42128307		2076	4208	6284	SO:0001819	synonymous_variant	150365						binding	g.chr22:42128307G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1155G>A	22.37:g.42128307G>A						MEI1_ENST00000540833.1_Silent_p.L125L|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	p.L385L	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			10	1195	+			385						Silent	SNP	ENST00000401548.3	37	c.1155G>A	CCDS46718.1																																																																																				0.557	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		27	66	0	0	0	1	0	27	66					A	42128307	G	A	42128307	2	1	79	1	0	0	0	0	0	0	0	1	9506	1306	46	2		2	MEI1	22	42128307	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	32706	42128307	9176259	21061	31378											
MEI1	150365	broad.mit.edu	37	chr22	42128519	42128519	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caagctcagccatgtgcagaGatgctggccgtgccctccaa	11	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128519G>T	ENST00000401548.3	+	11	1283	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y|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						CATGTGCAGAGATGCTGGCCG	0.552																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1243-1245)Gat>Tat		meiosis inhibitor 1							71	73	72					22																	42128519		2106	4238	6344	SO:0001583	missense	150365						binding	g.chr22:42128519G>T	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.1243G>T	22.37:g.42128519G>T	ENSP00000384115:p.Asp415Tyr					MEI1_ENST00000540833.1_Missense_Mutation_p.D155Y|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	p.D415Y	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			11	1283	+			415						Missense_Mutation	SNP	ENST00000401548.3	37	c.1243G>T	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460093	0.63401	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.47528	1.83;0.84	5.74	4.71	0.59529	Armadillo-like helical (1);Armadillo-type fold (1);	0.576504	0.18549	N	0.137954	T	0.56645	0.1999	L	0.56769	1.78	0.80722	D	1	P;D	0.60575	0.955;0.988	P;P	0.58873	0.66;0.847	T	0.58317	-0.7657	10	0.66056	D	0.02	-6.4029	7.1383	0.25541	0.1467:0.0:0.7135:0.1399	.	415;415	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	Y	415;155	ENSP00000384115:D415Y;ENSP00000444225:D155Y	ENSP00000384115:D415Y	D	+	1	0	MEI1	40458465	1.000000	0.71417	0.944000	0.38274	0.970000	0.65996	2.702000	0.47102	1.410000	0.46936	0.563000	0.77884	GAT		0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		42	216	1	0	8.20599e-20	1	9.16906e-20	42	216					T	42128519	G	T	42128519	3	4	79	1	0	0	0	0	1	0	0	0	9506	942	33	3	1285	3	MEI1	22	42128519	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212	42128519	9176047	21062	31379											
MEI1	150365	broad.mit.edu	37	chr22	42154490	42154490	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgctcgccagagacaGtactgcatcctgctcctctt	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42154490G>A	ENST00000401548.3	+	18	2113	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000540880.1_Silent_p.Q9Q|MEI1_ENST00000400107.1_Silent_p.Q59Q|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						GCCAGAGACAGTACTGCATCC	0.577																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2071-2073)caG>caA		meiosis inhibitor 1							55	57	56					22																	42154490		2049	4190	6239	SO:0001819	synonymous_variant	150365						binding	g.chr22:42154490G>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2073G>A	22.37:g.42154490G>A						MEI1_ENST00000540833.1_Silent_p.Q431Q|MEI1_ENST00000400107.1_Silent_p.Q59Q|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Silent_p.Q9Q	p.Q691Q	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			18	2113	+			691						Silent	SNP	ENST00000401548.3	37	c.2073G>A	CCDS46718.1																																																																																				0.577	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		21	118	0	0	0	1	0	21	118					A	42154490	G	A	42154490	2	1	79	1	0	0	0	0	0	0	0	1	9506	1020	36	2		2	MEI1	22	42154490	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	25971	42154490	9150076	21063	31380											
CCDC134	79879	broad.mit.edu	37	chr22	42209411	42209411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttctgcaaccagacaggcGtcttcaaccaggggccccac	10	15	3	1	rs374001821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42209411G>A	ENST00000255784.5	+	5	558	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	152						extracellular region (GO:0005576)|membrane (GO:0016020)				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGACAGGCGTCTTCAACCA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19150	0.0		0.0	False		,,,				2504	0.001					ENST00000255784.5																			0				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						c.(454-456)Gtc>Atc		coiled-coil domain containing 134		G	ILE/VAL	0,4406		0,0,2203	65	61	63		454	3.4	0.9	22		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC134	NM_024821.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	152/230	42209411	1,13005	2203	4300	6503	SO:0001583	missense	79879					extracellular region		g.chr22:42209411G>A	AL021453	CCDS33654.1	22q13.2	2010-12-24			ENSG00000100147	ENSG00000100147			26185	protein-coding gene	gene with protein product						18087676	Standard	NM_024821		Approved	FLJ22349	uc003bbh.1	Q9H6E4	OTTHUMG00000151262	ENST00000255784.5:c.454G>A	22.37:g.42209411G>A	ENSP00000255784:p.Val152Ile					CCDC134_ENST00000402061.3_Intron	p.V152I	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN			5	558	+			152						Missense_Mutation	SNP	ENST00000255784.5	37	c.454G>A	CCDS33654.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385119	0.25031	0.0	1.16E-4	ENSG00000100147	ENST00000255784	.	.	.	5.51	3.42	0.39159	.	0.184989	0.47852	N	0.000220	T	0.42494	0.1205	L	0.33485	1.01	0.44000	D	0.996703	B	0.21821	0.061	B	0.14578	0.011	T	0.33059	-0.9883	9	0.36615	T	0.2	-26.7955	9.1116	0.36732	0.2197:0.0:0.7803:0.0	.	152	Q9H6E4	CC134_HUMAN	I	152	.	ENSP00000255784:V152I	V	+	1	0	CCDC134	40539357	1.000000	0.71417	0.914000	0.36105	0.070000	0.16714	3.181000	0.50903	1.466000	0.48025	0.655000	0.94253	GTC		0.597	CCDC134-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321964.1	NM_024821		57	247	0	0	0	1	0	57	247					A	42209411	G	A	42209411	3	1	79	1	0	0	0	0	1	0	0	0	2775	1145	40	1	468	1	CCDC134	22	42209411	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54921	42209411	9095155	21064	31381											
SREBF2	6721	broad.mit.edu	37	chr22	42266957	42266957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccacactgaagacagatgGcagccctgttatggctgcgg	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42266957G>A	ENST00000361204.4	+	4	951	c.785G>A	c.(784-786)gGc>gAc	p.G262D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	262	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGACAGATGGCAGCCCTGTT	0.537																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(784-786)gGc>gAc		sterol regulatory element binding transcription factor 2							169	157	161					22																	42266957		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42266957G>A	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.785G>A	22.37:g.42266957G>A	ENSP00000354476:p.Gly262Asp						p.G262D	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			4	951	+			262			Interaction with LMNA (By similarity).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.785G>A	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765744	0.90020	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55760	0.5	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57154	-0.7860	10	0.17369	T	0.5	-32.2682	19.365	0.94458	0.0:0.0:1.0:0.0	.	262	Q12772	SRBP2_HUMAN	D	262	ENSP00000354476:G262D	ENSP00000354476:G262D	G	+	2	0	SREBF2	40596903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.525000	0.73795	2.577000	0.86979	0.455000	0.32223	GGC		0.537	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		177	719	0	0	0	1	0	177	719					A	42266957	G	A	42266957	3	1	79	1	0	0	0	0	1	0	0	0	15194	1203	42	2	799	2	SREBF2	22	42266957	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57546	42266957	9037609	21065	31382											
TNFRSF13C	115650	broad.mit.edu	37	chr22	42321490	42321490	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcttccccaggaggagGccaggcaggagctgtggcat	17	10	1	0	rs151243201	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42321490G>T	ENST00000291232.3	-	3	480	c.436C>A	c.(436-438)Cct>Act	p.P146T	MIR378I_ENST00000582688.1_RNA|CTA-250D10.23_ENST00000566575.1_lincRNA	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN	tumor necrosis factor receptor superfamily, member 13C	146					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of germinal center formation (GO:0002636)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				lung(2)|urinary_tract(1)	3						CCAGGAGGAGGCCAGGCAGGA	0.637																																						ENST00000291232.3																			0				lung(2)|urinary_tract(1)	3						c.(436-438)Cct>Act		tumor necrosis factor receptor superfamily, member 13C							64	65	65					22																	42321490		2203	4300	6503	SO:0001583	missense	115650					integral to membrane	receptor activity	g.chr22:42321490G>T	AF373846	CCDS14024.1	22q13.1-q13.3	2014-09-17			ENSG00000159958	ENSG00000159958		"Tumor necrosis factor receptor superfamily", "CD molecules"	17755	protein-coding gene	gene with protein product		606269				11509692	Standard	NM_052945		Approved	BAFFR, CD268	uc003bbl.2	Q96RJ3	OTTHUMG00000151271	ENST00000291232.3:c.436C>A	22.37:g.42321490G>T	ENSP00000291232:p.Pro146Thr						p.P146T	NM_052945.3	NP_443177.1	Q96RJ3	TR13C_HUMAN			3	480	-			146						Missense_Mutation	SNP	ENST00000291232.3	37	c.436C>A	CCDS14024.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.766959	0.69878	.	.	ENSG00000159958	ENST00000291232	T	0.36520	1.25	4.93	3.77	0.43336	.	0.259797	0.26944	N	0.021715	T	0.25606	0.0623	L	0.29908	0.895	0.34237	D	0.677158	P;P	0.40875	0.731;0.731	B;B	0.38428	0.273;0.273	T	0.40459	-0.9562	10	0.51188	T	0.08	0.6656	9.7503	0.40473	0.1094:0.0:0.8906:0.0	.	146;146	Q5H8V1;Q96RJ3	.;TR13C_HUMAN	T	146	ENSP00000291232:P146T	ENSP00000291232:P146T	P	-	1	0	TNFRSF13C	40651436	0.922000	0.31269	0.822000	0.32727	0.704000	0.40688	1.135000	0.31454	1.214000	0.43395	0.655000	0.94253	CCT		0.637	TNFRSF13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322046.1			26	338	1	0	4.22769e-11	1	4.50498e-11	26	338					T	42321490	G	T	42321490	3	4	79	1	0	0	0	0	1	0	0	0	16340	1203	42	3	122	3	TNFRSF13C	22	42321490	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54533	42321490	8983076	21066	31383											
WBP2NL	164684	broad.mit.edu	37	chr22	42416055	42416055	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aattagtcttcagaaatggaGatgccattgaatttgcccag	9	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42416055G>T	ENST00000328823.9	+	4	392	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	121			D -> G (in dbSNP:rs133335). {ECO:0000269|PubMed:15489334}.		egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGAAATGGAGATGCCATTGA	0.428																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(361-363)Gat>Tat		WBP2 N-terminal like							140	142	142					22																	42416055		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42416055G>T	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.361G>T	22.37:g.42416055G>T	ENSP00000332983:p.Asp121Tyr					WBP2NL_ENST00000543212.1_Missense_Mutation_p.D47Y	p.D121Y	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			4	392	+			121		D -> G (in dbSNP:rs133335).			A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.361G>T	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009860	0.54361	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.30448	1.53;1.53	5.23	5.23	0.72850	WW-domain-binding protein (1);	0.000000	0.46442	D	0.000295	T	0.20170	0.0485	N	0.08118	0	0.27072	N	0.963301	B	0.16603	0.018	B	0.13407	0.009	T	0.24621	-1.0155	10	0.87932	D	0	-5.2897	17.7276	0.88369	0.0:0.0:1.0:0.0	.	121	Q6ICG8	WBP2L_HUMAN	Y	121;47	ENSP00000332983:D121Y;ENSP00000442447:D47Y	ENSP00000332983:D121Y	D	+	1	0	WBP2NL	40746001	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.021000	0.76425	2.719000	0.93026	0.655000	0.94253	GAT		0.428	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		130	584	1	0	2.83116e-54	1	3.53397e-54	130	584					T	42416055	G	T	42416055	3	4	79	1	0	0	0	0	1	0	0	0	17314	942	33	3	375	3	WBP2NL	22	42416055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94565	42416055	8888511	21067	31384											
WBP2NL	164684	broad.mit.edu	37	chr22	42422788	42422788	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agttattgtctatggagcccCacctgcaggatatggagccc	11	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42422788C>A	ENST00000328823.9	+	6	564	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	178	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TATGGAGCCCCACCTGCAGGA	0.468																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(532-534)cCa>cAa		WBP2 N-terminal like							78	91	87					22																	42422788		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42422788C>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"postacrosomal sheath WW domain-binding protein"	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.533C>A	22.37:g.42422788C>A	ENSP00000332983:p.Pro178Gln					WBP2NL_ENST00000543212.1_Missense_Mutation_p.P104Q	p.P178Q	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	564	+			178			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.533C>A	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304715	0.40795	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	D;D	0.84370	-1.84;-1.84	4.19	1.97	0.26223	WW-domain-binding protein (1);	.	.	.	.	T	0.81688	0.4875	L	0.59912	1.85	0.26110	N	0.980693	B	0.31910	0.346	B	0.34652	0.187	T	0.70117	-0.4960	9	0.39692	T	0.17	.	9.2072	0.37296	0.4419:0.5581:0.0:0.0	.	178	Q6ICG8	WBP2L_HUMAN	Q	178;104	ENSP00000332983:P178Q;ENSP00000442447:P104Q	ENSP00000332983:P178Q	P	+	2	0	WBP2NL	40752734	0.000000	0.05858	0.015000	0.15790	0.004000	0.04260	-0.055000	0.11807	0.448000	0.26722	-0.291000	0.09656	CCA		0.468	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		16	892	1	0	1.5739e-10	1	1.67034e-10	16	892					A	42422788	C	A	42422788	3	1	79	1	0	0	0	0	1	0	0	0	17314	594	21	3	555	3	WBP2NL	22	42422788	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6733	42422788	8881778	21068	31385											
NDUFA6	4700	broad.mit.edu	37	chr22	42482233	42482233	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggataggaaatcctttggcCttggcgcttctgtttcatgg	12	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42482233C>A	ENST00000498737.2	-	3	551	c.419G>T	c.(418-420)aGg>aTg	p.R140M	NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M|NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	140					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						ATCCTTTGGCCTTGGCGCTTC	0.428																																						ENST00000498737.2																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(418-420)aGg>aTg		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	NADH(DB00157)						212	187	195					22																	42482233		2203	4300	6503	SO:0001583	missense	4700				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr22:42482233C>A	AF047182	CCDS33656.1	22q13.2	2010-05-07	2002-08-29		ENSG00000184983	ENSG00000184983		"LYR motif containing", "Mitochondrial respiratory chain complex / Complex I"	7690	protein-coding gene	gene with protein product	"complex I B14 subunit"	602138	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6 (14kD, B14)"			9763676, 9425316	Standard	NM_002490		Approved	B14, LYRM6, CI-B14, NADHB14	uc003bcb.3	P56556	OTTHUMG00000151287	ENST00000498737.2:c.419G>T	22.37:g.42482233C>A	ENSP00000418842:p.Arg140Met					NDUFA6_ENST00000470753.1_Missense_Mutation_p.R57M|NDUFA6_ENST00000602404.1_Missense_Mutation_p.R114M|SMDT1_ENST00000547929.1_Intron	p.R140M	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN			3	551	-			140					B2RE54|O43675|Q6FGW0|Q6IBT8|Q6IC39	Missense_Mutation	SNP	ENST00000498737.2	37	c.419G>T	CCDS33656.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743576	0.89663	.	.	ENSG00000184983	ENST00000498737	T	0.66280	-0.2	6.17	4.09	0.47781	.	0.085950	0.85682	D	0.000000	T	0.74884	0.3775	M	0.87038	2.855	0.80722	D	1	D	0.54047	0.964	P	0.52856	0.711	T	0.78650	-0.2121	10	0.56958	D	0.05	-24.6463	12.8598	0.57908	0.0:0.8674:0.0:0.1326	.	140	P56556	NDUA6_HUMAN	M	140	ENSP00000418842:R140M	ENSP00000418842:R140M	R	-	2	0	NDUFA6	40812179	1.000000	0.71417	0.949000	0.38748	0.959000	0.62525	3.215000	0.51169	0.938000	0.37419	0.655000	0.94253	AGG		0.428	NDUFA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322089.4	NM_002490		123	505	1	0	7.48799e-53	1	9.32186e-53	123	505					A	42482233	C	A	42482233	3	1	79	1	0	0	0	0	1	0	0	0	10311	681	24	3	49	3	NDUFA6	22	42482233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	59445	42482233	8822333	21069	31386											
CYP2D6	1565	broad.mit.edu	37	chr22	42525823	42525823	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccgtgggtcaccagcGcctcgcgcacggccgccagc	13	20	1	0	rs267608309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42525823G>A	ENST00000360608.5	-	2	383	c.269C>T	c.(268-270)gCg>gTg	p.A90V	CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000608491.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	90					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)	GGTCACCAGCGCCTCGCGCAC	0.716																																						ENST00000360608.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(268-270)gCg>gTg		cytochrome P450, family 2, subfamily D, polypeptide 6							13	14	13					22																	42525823		2161	4193	6354	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42525823G>A	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.269C>T	22.37:g.42525823G>A	ENSP00000353820:p.Ala90Val					CYP2D6_ENST00000389970.3_Missense_Mutation_p.A90V|CYP2D6_ENST00000359033.4_Missense_Mutation_p.A90V|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.1_RNA	p.A90V	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN			2	383	-			90					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.269C>T	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	g	15.35	2.808652	0.50421	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.61510	0.1;0.1;0.1	3.46	2.44	0.29823	.	0.000000	0.64402	D	0.000001	T	0.50411	0.1614	L	0.43554	1.36	0.58432	D	0.999999	P;P	0.49447	0.734;0.924	P;B	0.47626	0.552;0.313	T	0.40117	-0.9580	10	0.19147	T	0.46	.	10.2971	0.43631	0.1036:0.0:0.8964:0.0	.	90;90	Q6NXU8;Q6NWU0	.;.	V	90;90;39;90;90	ENSP00000353820:A90V;ENSP00000374620:A90V;ENSP00000351927:A90V	ENSP00000351927:A90V	A	-	2	0	CYP2D6	40855767	1.000000	0.71417	0.987000	0.45799	0.254000	0.26022	4.625000	0.61262	1.022000	0.39626	0.484000	0.47621	GCG		0.716	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			36	193	0	0	0	1	0	36	193					A	42525823	G	A	42525823	3	1	79	1	0	0	0	0	1	0	0	0	4180	1087	38	1	1256	1	CYP2D6	22	42525823	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	43590	42525823	8778743	21070	31387											
TCF20	6942	broad.mit.edu	37	chr22	42605786	42605786	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ctgtcaagaggtagttcaggGatttgtaactccagctcagg	12	8	3	1	rs578222327	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42605786G>T	ENST00000359486.3	-	1	5662	c.5526C>A	c.(5524-5526)atC>atA	p.I1842I	TCF20_ENST00000404876.1_Silent_p.I143I|TCF20_ENST00000335626.4_Silent_p.I1842I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1842					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						GTAGTTCAGGGATTTGTAACT	0.517																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5524-5526)atC>atA		transcription factor 20 (AR1)							143	145	145					22																	42605786		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605786G>T	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.5526C>A	22.37:g.42605786G>T						TCF20_ENST00000335626.4_Silent_p.I1842I|TCF20_ENST00000404876.1_Silent_p.I143I	p.I1842I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5662	-			1842					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.5526C>A	CCDS14033.1																																																																																				0.517	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		34	855	1	0	6.50621e-10	1	6.87419e-10	34	855					T	42605786	G	T	42605786	2	4	79	1	0	0	0	0	0	0	0	1	15742	1164	41	3		3	TCF20	22	42605786	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79963	42605786	8698780	21071	31388											
TCF20	6942	broad.mit.edu	37	chr22	42607439	42607439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaattgaatgctttatcagcGccttcttttgatgagtgaag	10	6	2	4	rs369173064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42607439G>A	ENST00000359486.3	-	1	4009	c.3873C>T	c.(3871-3873)ggC>ggT	p.G1291G	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.G1291G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1291					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						CTTTATCAGCGCCTTCTTTTG	0.428																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(3871-3873)ggC>ggT		transcription factor 20 (AR1)		G	,	1,4405	2.1+/-5.4	0,1,2202	212	191	198		3873,3873	-4.6	0	22		198	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TCF20	NM_005650.1,NM_181492.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1291/1961,1291/1939	42607439	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607439G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3873C>T	22.37:g.42607439G>A						TCF20_ENST00000335626.4_Silent_p.G1291G	p.G1291G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	4009	-			1291					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.3873C>T	CCDS14033.1																																																																																				0.428	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		148	598	0	0	0	1	0	148	598					A	42607439	G	A	42607439	2	1	79	1	0	0	0	0	0	0	0	1	15742	1074	38	1		1	TCF20	22	42607439	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1653	42607439	8697127	21072	31389											
TCF20	6942	broad.mit.edu	37	chr22	42609324	42609324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccattcttgtttcctttgCtccctcctcctcctggaggc	7	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609324C>T	ENST00000359486.3	-	1	2124	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	663					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						GTTTCCTTTGCTCCCTCCTCC	0.542																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1987-1989)aGc>aAc		transcription factor 20 (AR1)							119	92	101					22																	42609324		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609324C>T	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.1988G>A	22.37:g.42609324C>T	ENSP00000352463:p.Ser663Asn					TCF20_ENST00000335626.4_Missense_Mutation_p.S663N	p.S663N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	2124	-			663					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1988G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	7.809	0.715375	0.15306	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59502	0.26;0.26	5.65	0.00184	0.14048	.	.	.	.	.	T	0.35566	0.0936	N	0.14661	0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.07888	-1.0749	9	0.36615	T	0.2	-0.3196	9.0709	0.36491	0.0:0.6288:0.0:0.3712	.	663;663	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	663	ENSP00000352463:S663N;ENSP00000335561:S663N	ENSP00000335561:S663N	S	-	2	0	TCF20	40939268	0.190000	0.23276	0.939000	0.37840	0.976000	0.68499	0.230000	0.17852	0.193000	0.20303	0.655000	0.94253	AGC		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		81	374	0	0	0	1	0	81	374					T	42609324	C	T	42609324	3	4	79	1	0	0	0	0	1	0	0	0	15742	797	28	2	3932	2	TCF20	22	42609324	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1885	42609324	8695242	21073	31390											
TCF20	6942	broad.mit.edu	37	chr22	42609754	42609754	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actgctggagcagcctccatCtaatgactctgccatagggg	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609754C>A	ENST00000359486.3	-	1	1694	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	520					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						CAGCCTCCATCTAATGACTCT	0.537																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1558-1560)Gat>Tat		transcription factor 20 (AR1)							155	164	161					22																	42609754		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609754C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1558G>T	22.37:g.42609754C>A	ENSP00000352463:p.Asp520Tyr					TCF20_ENST00000335626.4_Missense_Mutation_p.D520Y	p.D520Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1694	-			520					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1558G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573944	0.45902	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35236	1.32;1.32	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50480	0.1618	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.50825	-0.8782	10	0.87932	D	0	-22.0814	20.8794	0.99867	0.0:1.0:0.0:0.0	.	520;520	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	Y	520	ENSP00000352463:D520Y;ENSP00000335561:D520Y	ENSP00000335561:D520Y	D	-	1	0	TCF20	40939698	1.000000	0.71417	0.957000	0.39632	0.560000	0.35617	2.209000	0.42806	2.941000	0.99782	0.655000	0.94253	GAT		0.537	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		260	1071	1	0	2.60651e-80	1	3.33335e-80	260	1071					A	42609754	C	A	42609754	3	1	79	1	0	0	0	0	1	0	0	0	15742	913	32	3	4362	3	TCF20	22	42609754	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	430	42609754	8694812	21074	31391											
TCF20	6942	broad.mit.edu	37	chr22	42609955	42609955	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagagcactcaaactactcaAcccaggatctgtcagtcgct	7	14	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609955A>G	ENST00000359486.3	-	1	1493	c.1357T>C	c.(1357-1359)Ttg>Ctg	p.L453L	TCF20_ENST00000335626.4_Silent_p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	453					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						AAACTACTCAACCCAGGATCT	0.488																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1357-1359)Ttg>Ctg		transcription factor 20 (AR1)							99	100	99					22																	42609955		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609955A>G	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.1357T>C	22.37:g.42609955A>G						TCF20_ENST00000335626.4_Silent_p.L453L	p.L453L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	1493	-			453					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.1357T>C	CCDS14033.1																																																																																				0.488	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		38	529	0	0	0	1	0	38	529					G	42609955	A	G	42609955	2	3	79	1	0	0	0	0	0	0	0	1	15742	40	2	4		4	TCF20	22	42609955	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	201	42609955	8694611	21075	31392											
TCF20	6942	broad.mit.edu	37	chr22	42611246	42611246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctagccgggatgagccGtgtacctcctgtgggtagct	13	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42611246G>A	ENST00000359486.3	-	1	202	c.66C>T	c.(64-66)caC>caT	p.H22H	TCF20_ENST00000335626.4_Silent_p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	22					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						GGGATGAGCCGTGTACCTCCT	0.567																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(64-66)caC>caT		transcription factor 20 (AR1)							74	65	68					22																	42611246		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42611246G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.66C>T	22.37:g.42611246G>A						TCF20_ENST00000335626.4_Silent_p.H22H	p.H22H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	202	-			22					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.66C>T	CCDS14033.1																																																																																				0.567	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		55	274	0	0	0	1	0	55	274					A	42611246	G	A	42611246	2	1	79	1	0	0	0	0	0	0	0	1	15742	1136	40	1		1	TCF20	22	42611246	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1291	42611246	8693320	21076	31393											
SERHL2	253190	broad.mit.edu	37	chr22	42967184	42967184	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcattccatcaggaagCtgcaggcccatgtcctgttg	12	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42967184C>T	ENST00000327678.5	+	10	808	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	SERHL2_ENST00000340239.4_Silent_p.S197S|SERHL2_ENST00000407614.4_Silent_p.L56L|SERHL2_ENST00000335879.5_Silent_p.L172L|RNU6-513P_ENST00000516104.1_RNA|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CATCAGGAAGCTGCAGGCCCA	0.567																																						ENST00000327678.5																			0				breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						c.(706-708)Ctg>Ttg		serine hydrolase-like 2							132	104	113					22																	42967184		2203	4300	6503	SO:0001819	synonymous_variant	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42967184C>T		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.706C>T	22.37:g.42967184C>T						SERHL2_ENST00000340239.4_Silent_p.S197S|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Silent_p.L56L|SERHL2_ENST00000335879.5_Silent_p.L172L	p.L236L	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN			10	808	+			236					Q5JZ95|Q9UH21	Silent	SNP	ENST00000327678.5	37	c.706C>T	CCDS14037.1																																																																																				0.567	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		49	187	0	0	0	1	0	49	187					T	42967184	C	T	42967184	2	4	79	1	0	0	0	0	0	0	0	1	14128	796	28	2		2	SERHL2	22	42967184	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	355938	42967184	8337382	21077	31394											
POLDIP3	84271	broad.mit.edu	37	chr22	42988051	42988051	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctaccccaggatggaccaGtcgagctcgcttgagggccc	13	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42988051G>A	ENST00000252115.5	-	7	1035	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.L155L|POLDIP3_ENST00000348657.2_Silent_p.L282L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	311	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGATGGACCAGTCGAGCTCGC	0.542																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(931-933)Ctg>Ttg		polymerase (DNA-directed), delta interacting protein 3							177	154	162					22																	42988051		2203	4300	6503	SO:0001819	synonymous_variant	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42988051G>A		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.931C>T	22.37:g.42988051G>A						POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Silent_p.L282L|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_Silent_p.L155L	p.L311L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			7	1035	-			311			RRM.		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	c.931C>T	CCDS14038.1																																																																																				0.542	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		116	616	0	0	0	1	0	116	616					A	42988051	G	A	42988051	2	1	79	1	0	0	0	0	0	0	0	1	12237	1020	36	2		2	POLDIP3	22	42988051	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20867	42988051	8316515	21078	31395											
CYB5R3	1727	broad.mit.edu	37	chr22	43032837	43032837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggaaccagactgggaagaGcaccatatggcccaactgaa	11	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43032837G>T	ENST00000352397.5	-	2	289	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	CYB5R3_ENST00000361740.4_Missense_Mutation_p.L46I|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000407623.3_5'UTR	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	13					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)	ACTGGGAAGAGCACCATATGG	0.607																																						ENST00000361740.4																			0				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6						c.(136-138)Ctc>Atc		cytochrome b5 reductase 3	NADH(DB00157)						75	64	68					22																	43032837		2203	4300	6503	SO:0001583	missense	1727				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity	g.chr22:43032837G>T	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.37C>A	22.37:g.43032837G>T	ENSP00000338461:p.Leu13Ile					CYB5R3_ENST00000402438.1_5'UTR|CYB5R3_ENST00000407623.3_5'UTR|CYB5R3_ENST00000407332.1_5'UTR|CYB5R3_ENST00000396303.3_5'UTR|CYB5R3_ENST00000352397.5_Missense_Mutation_p.L13I	p.L46I	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN			2	135	-			13			FAD-binding FR-type.		B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	ENST00000352397.5	37	c.136C>A	CCDS33658.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198982	0.38806	.	.	ENSG00000100243	ENST00000361740;ENST00000352397	D;D	0.87571	-2.27;-2.2	4.96	2.68	0.31781	.	0.873704	0.10018	N	0.726296	T	0.78381	0.4274	L	0.29908	0.895	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.10450	0.005;0.004	T	0.67616	-0.5625	10	0.21540	T	0.41	-29.9184	8.1457	0.31110	0.0:0.2946:0.5437:0.1617	.	46;13	B7Z7L3;P00387	.;NB5R3_HUMAN	I	46;13	ENSP00000354468:L46I;ENSP00000338461:L13I	ENSP00000338461:L13I	L	-	1	0	CYB5R3	41362781	0.874000	0.30092	0.999000	0.59377	0.861000	0.49209	0.867000	0.27968	1.206000	0.43276	0.467000	0.42956	CTC		0.607	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320439.1			21	142	1	0	5.45024e-15	1	5.94044e-15	21	142					T	43032837	G	T	43032837	3	4	79	1	0	0	0	0	1	0	0	0	4139	971	34	3	900	3	CYB5R3	22	43032837	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44786	43032837	8271729	21079	31396											
A4GALT	53947	broad.mit.edu	37	chr22	43089256	43089256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtggtccacgaagtcccgCatgcacagcgccatgaactc	10	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43089256C>T	ENST00000401850.1	-	2	1191	c.702G>A	c.(700-702)atG>atA	p.M234I	A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I|A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I|A4GALT_ENST00000465765.2_5'Flank			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	234					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						CGAAGTCCCGCATGCACAGCG	0.652																																						ENST00000401850.1																			0				NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(700-702)atG>atA		alpha 1,4-galactosyltransferase							23	19	20					22																	43089256		2197	4298	6495	SO:0001583	missense	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089256C>T		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.702G>A	22.37:g.43089256C>T	ENSP00000384794:p.Met234Ile					A4GALT_ENST00000381278.3_Missense_Mutation_p.M234I|A4GALT_ENST00000249005.2_Missense_Mutation_p.M234I	p.M234I			Q9NPC4	A4GAT_HUMAN			2	1191	-			234					B2R7C4|Q9P1X5	Missense_Mutation	SNP	ENST00000401850.1	37	c.702G>A	CCDS14041.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786510	0.49997	.	.	ENSG00000128274	ENST00000401850;ENST00000249005;ENST00000381278;ENST00000535654	T;T;T	0.70749	-0.51;-0.51;-0.51	5.13	4.11	0.48088	Alpha 1,4-glycosyltransferase domain (1);	0.082662	0.49916	D	0.000121	T	0.53578	0.1805	N	0.16903	0.455	0.32743	N	0.507462	B	0.10296	0.003	B	0.14023	0.01	T	0.57118	-0.7866	10	0.30078	T	0.28	-9.3769	12.372	0.55260	0.0:0.9157:0.0:0.0843	.	234	Q9NPC4	A4GAT_HUMAN	I	234	ENSP00000384794:M234I;ENSP00000249005:M234I;ENSP00000370678:M234I	ENSP00000249005:M234I	M	-	3	0	A4GALT	41419200	0.995000	0.38212	0.985000	0.45067	0.975000	0.68041	2.988000	0.49386	1.143000	0.42306	0.561000	0.74099	ATG		0.652	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		7	149	0	0	0	1	0	7	149					T	43089256	C	T	43089256	3	4	79	1	0	0	0	0	1	0	0	0	6	710	25	2	363	2	A4GALT	22	43089256	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	56419	43089256	8215310	21080	31397											
TTLL1	25809	broad.mit.edu	37	chr22	43442432	43442432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacagaatctcgtaattgcCgaggacttccttaggtggcg	11	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442432C>T	ENST00000266254.7	-	10	1366	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Missense_Mutation_p.G347S	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	376					axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCGTAATTGCCGAGGACTTCC	0.498																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(1039-1041)Ggc>Agc		tubulin tyrosine ligase-like family, member 1							390	307	335					22																	43442432		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43442432C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.1126G>A	22.37:g.43442432C>T	ENSP00000266254:p.Gly376Ser					TTLL1_ENST00000266254.7_Missense_Mutation_p.G376S|AL022476.2_ENST00000443063.1_RNA	p.G347S			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1279	-		Ovarian(80;0.0694)	376			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.1039G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210431	0.95069	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.11712	2.75;3.6	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.28830	0.0715	M	0.78049	2.395	0.80722	D	1	D;P	0.55385	0.971;0.952	P;P	0.52598	0.703;0.577	T	0.01545	-1.1328	10	0.54805	T	0.06	.	19.548	0.95307	0.0:1.0:0.0:0.0	.	347;376	O95922-4;O95922	.;TTLL1_HUMAN	S	347;376	ENSP00000333734:G347S;ENSP00000266254:G376S	ENSP00000266254:G376S	G	-	1	0	TTLL1	41772376	1.000000	0.71417	0.940000	0.37924	0.820000	0.46376	7.740000	0.84986	2.621000	0.88768	0.555000	0.69702	GGC		0.498	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		28	741	0	0	0	1	0	28	741					T	43442432	C	T	43442432	3	4	79	1	0	0	0	0	1	0	0	0	16776	652	23	1	153	1	TTLL1	22	43442432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	353176	43442432	7862134	21081	31398											
TTLL1	25809	broad.mit.edu	37	chr22	43442565	43442565	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgctggacgtgagagaCggggacgcattcacctgtga	16	9	1	3	rs143499869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442565C>T	ENST00000266254.7	-	10	1233	c.993G>A	c.(991-993)ccG>ccA	p.P331P	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000331018.7_Silent_p.P302P	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	331	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACGTGAGAGACGGGGACGCAT	0.512																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(904-906)ccG>ccA		tubulin tyrosine ligase-like family, member 1		C		0,4406		0,0,2203	271	235	247		993	-3	0.4	22	dbSNP_134	247	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TTLL1	NM_012263.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		331/424	43442565	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43442565C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.993G>A	22.37:g.43442565C>T						TTLL1_ENST00000266254.7_Silent_p.P331P|AL022476.2_ENST00000443063.1_RNA	p.P302P			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	9	1146	-		Ovarian(80;0.0694)	331			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.906G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719347	0.15372	0.0	2.33E-4	ENSG00000100271	ENST00000495814	.	.	.	5.54	-2.99	0.05497	.	.	.	.	.	T	0.53753	0.1816	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52609	-0.8553	4	.	.	.	.	9.4624	0.38792	0.1029:0.5492:0.0:0.3479	.	.	.	.	H	257	.	.	R	-	2	0	TTLL1	41772509	0.000000	0.05858	0.388000	0.26195	0.796000	0.44982	-3.454000	0.00465	-0.266000	0.09339	0.549000	0.68633	CGT		0.512	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		103	399	0	0	0	1	0	103	399					T	43442565	C	T	43442565	2	4	79	1	0	0	0	0	0	0	0	1	16776	523	19	1		1	TTLL1	22	43442565	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	133	43442565	7862001	21082	31399											
TTLL1	25809	broad.mit.edu	37	chr22	43459836	43459836	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccgtgtttctggatggCgacgttggtgagatgaacga	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43459836C>T	ENST00000266254.7	-	7	970	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	TTLL1_ENST00000331018.7_Missense_Mutation_p.A244T	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	244	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCTGGATGGCGACGTTGGTG	0.532																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(730-732)Gcc>Acc		tubulin tyrosine ligase-like family, member 1							212	183	193					22																	43459836		2203	4300	6503	SO:0001583	missense	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43459836C>T	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.730G>A	22.37:g.43459836C>T	ENSP00000266254:p.Ala244Thr					TTLL1_ENST00000266254.7_Missense_Mutation_p.A244T	p.A244T			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	7	970	-		Ovarian(80;0.0694)	244			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	ENST00000266254.7	37	c.730G>A	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910476	0.92107	.	.	ENSG00000100271	ENST00000331018;ENST00000266254	T;T	0.05855	3.38;3.38	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	M	0.80028	2.48	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.66084	0.778;0.941	T	0.00258	-1.1871	10	0.87932	D	0	.	18.6172	0.91306	0.0:1.0:0.0:0.0	.	244;244	O95922-4;O95922	.;TTLL1_HUMAN	T	244	ENSP00000333734:A244T;ENSP00000266254:A244T	ENSP00000266254:A244T	A	-	1	0	TTLL1	41789780	1.000000	0.71417	0.993000	0.49108	0.942000	0.58702	7.458000	0.80787	2.837000	0.97791	0.591000	0.81541	GCC		0.532	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		88	393	0	0	0	1	0	88	393					T	43459836	C	T	43459836	3	4	79	1	0	0	0	0	1	0	0	0	16776	768	27	1	561	1	TTLL1	22	43459836	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17271	43459836	7844730	21083	31400											
MCAT	27349	broad.mit.edu	37	chr22	43529075	43529075	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggggctcctgagggtccaGgtccacatgttcgagggtct	16	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	ENST00000290429.6	-	4	1192	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	383					fatty acid biosynthetic process (GO:0006633)|metabolic process (GO:0008152)	mitochondrion (GO:0005739)	[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAGGGTCCAGGTCCACATGT	0.632																																						ENST00000290429.5																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1147-1149)Ctg>Atg		malonyl CoA:ACP acyltransferase (mitochondrial)							84	86	85					22																	43529075		2203	4300	6503	SO:0001583	missense	27349				fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	g.chr22:43529075G>T	AL359401	CCDS14045.1, CCDS33660.1	22q13.2	2010-04-27			ENSG00000100294	ENSG00000100294	2.3.1.39		29622	protein-coding gene	gene with protein product		614479				12882974	Standard	NM_173467		Approved	MT, MCT, fabD, FASN2C, NET62	uc003bdl.1	Q8IVS2	OTTHUMG00000150704	ENST00000290429.6:c.1147C>A	22.37:g.43529075G>T	ENSP00000290429:p.Leu383Met					MCAT_ENST00000327555.5_3'UTR	p.L383M	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN			4	1192	-		Ovarian(80;0.0694)	383					B0QY72|O95510|O95511	Missense_Mutation	SNP	ENST00000290429.6	37	c.1147C>A	CCDS33660.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514198	0.27123	.	.	ENSG00000100294	ENST00000290429	T	0.47528	0.84	4.28	-3.24	0.05094	.	2.333530	0.02116	N	0.055174	T	0.20820	0.0501	N	0.02011	-0.69	0.09310	N	1	B	0.25955	0.138	B	0.25405	0.06	T	0.21211	-1.0252	10	0.49607	T	0.09	-23.036	4.6378	0.12534	0.0882:0.4118:0.3598:0.1401	.	383	Q8IVS2	FABD_HUMAN	M	383	ENSP00000290429:L383M	ENSP00000290429:L383M	L	-	1	2	MCAT	41859019	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.101000	0.03336	-0.026000	0.13895	0.650000	0.86243	CTG		0.632	MCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319677.2	NM_173467		96	513	1	0	9.24773e-40	1	1.11906e-39	96	513					T	43529075	G	T	43529075	3	4	79	1	0	0	0	0	1	0	0	0	9413	991	35	3	29	3	MCAT	22	43529075	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	69239	43529075	7775491	21084	31401											
SCUBE1	80274	broad.mit.edu	37	chr22	43614381	43614381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggacatagaactgctgccGgccgatggacttgcgcaggg	15	11	0	1	rs150769460	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43614381G>A	ENST00000360835.4	-	15	1897	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	591					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)				AACTGCTGCCGGCCGATGGAC	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20575	0.0		0.001	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1771-1773)Cgg>Tgg		signal peptide, CUB domain, EGF-like 1		G	TRP/ARG	0,4406		0,0,2203	104	110	108		1771	3.2	1	22	dbSNP_134	108	20,8580	15.3+/-51.7	0,20,4280	yes	missense	SCUBE1	NM_173050.3	101	0,20,6483	AA,AG,GG		0.2326,0.0,0.1538	probably-damaging	591/989	43614381	20,12986	2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43614381G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1771C>T	22.37:g.43614381G>A	ENSP00000354080:p.Arg591Trp						p.R591W	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			15	1897	-		all_neural(38;0.0414)|Ovarian(80;0.07)	591					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1771C>T	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101396	0.76983	0.0	0.002326	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.86297	-2.1	4.29	3.2	0.36748	.	0.162750	0.52532	D	0.000063	D	0.88706	0.6509	M	0.61703	1.905	0.80722	D	1	D	0.65815	0.995	P	0.55455	0.776	D	0.89037	0.3446	10	0.87932	D	0	.	9.6957	0.40156	0.0:0.0:0.5699:0.4301	.	591	Q8IWY4	SCUB1_HUMAN	W	591;221	ENSP00000354080:R591W	ENSP00000354080:R591W	R	-	1	2	SCUBE1	41944325	1.000000	0.71417	0.999000	0.59377	0.840000	0.47671	1.520000	0.35899	2.215000	0.71742	0.558000	0.71614	CGG		0.652	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		148	762	0	0	0	1	0	148	762					A	43614381	G	A	43614381	3	1	79	1	0	0	0	0	1	0	0	0	13994	1115	39	1	1227	1	SCUBE1	22	43614381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	85306	43614381	7690185	21085	31402											
SCUBE1	80274	broad.mit.edu	37	chr22	43623456	43623456	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagctgcccttggtgttgacGcagccctggtcacagctccc	11	15	1	1	rs142424380	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43623456G>A	ENST00000360835.4	-	10	1257	c.1131C>T	c.(1129-1131)tgC>tgT	p.C377C		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	377	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGTGTTGACGCAGCCCTGGT	0.677																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1129-1131)tgC>tgT		signal peptide, CUB domain, EGF-like 1		G		2,4404	4.2+/-10.8	0,2,2201	79	63	68		1131	-1	1	22	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	SCUBE1	NM_173050.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		377/989	43623456	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43623456G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1131C>T	22.37:g.43623456G>A							p.C377C	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			10	1257	-		all_neural(38;0.0414)|Ovarian(80;0.07)	377			EGF-like 9; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.1131C>T	CCDS14048.1																																																																																				0.677	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		39	151	0	0	0	1	0	39	151					A	43623456	G	A	43623456	2	1	79	1	0	0	0	0	0	0	0	1	13994	1079	38	1		1	SCUBE1	22	43623456	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9075	43623456	7681110	21086	31403											
SCUBE1	80274	broad.mit.edu	37	chr22	43634902	43634902	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcagctgcatcgcacGccagtggctgtgtccttgca	14	13	0	0	rs140715405		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	ENST00000360835.4	-	7	912	c.786C>T	c.(784-786)ggC>ggT	p.G262G	SCUBE1_ENST00000290460.7_Silent_p.G292G|Z82214.2_ENST00000419643.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	262	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCATCGCACGCCAGTGGCTG	0.602													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19685	0.0		0.0	False		,,,				2504	0.0					ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(784-786)ggC>ggT		signal peptide, CUB domain, EGF-like 1							66	53	57					22																	43634902		2202	4300	6502	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43634902G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.786C>T	22.37:g.43634902G>A						Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000290460.7_Silent_p.G292G	p.G262G	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			7	912	-		all_neural(38;0.0414)|Ovarian(80;0.07)	262			EGF-like 5 (Potential).|EGF-like 6 (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.786C>T	CCDS14048.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	g|g	1.631|1.631	-0.518974|-0.518974	0.04171|0.04171	.|.	.|.	ENSG00000159307|ENSG00000159307	ENST00000381243|ENST00000449304	.|.	.|.	.|.	5.5|5.5	-9.04|-9.04	0.00734|0.00734	.|.	.|.	.|.	.|.	.|.	T|T	0.32133|0.32133	0.0819|0.0819	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43988|0.43988	-0.9357|-0.9357	5|4	0.37606|.	T|.	0.19|.	.|.	0.8891|0.8891	0.01250|0.01250	0.4082:0.1552:0.1447:0.2919|0.4082:0.1552:0.1447:0.2919	.|.	.|.	.|.	.|.	V|C	55|116	.|.	ENSP00000370642:A55V|.	A|R	-|-	2|1	0|0	SCUBE1|SCUBE1	41964846|41964846	0.001000|0.001000	0.12720|0.12720	0.374000|0.374000	0.26016|0.26016	0.025000|0.025000	0.11179|0.11179	-1.629000|-1.629000	0.02029|0.02029	-1.170000|-1.170000	0.02769|0.02769	-2.103000|-2.103000	0.00360|0.00360	GCG|CGT		0.602	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		55	188	0	0	0	1	0	55	188					A	43634902	G	A	43634902	2	1	79	1	0	0	0	0	0	0	0	1	13994	1074	38	1		1	SCUBE1	22	43634902	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11446	43634902	7669664	21087	31404											
SCUBE1	80274	broad.mit.edu	37	chr22	43687117	43687117	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agccactgtggcactgacacTcgtagctgcccatggcattg	11	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	ENST00000360835.4	-	4	545	c.419A>C	c.(418-420)gAg>gCg	p.E140A	SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	140	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCACTGACACTCGTAGCTGCC	0.547																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(418-420)gAg>gCg		signal peptide, CUB domain, EGF-like 1							110	66	81					22																	43687117		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687117T>G		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.419A>C	22.37:g.43687117T>G	ENSP00000354080:p.Glu140Ala					SCUBE1_ENST00000290460.7_Missense_Mutation_p.E140A	p.E140A	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			4	545	-		all_neural(38;0.0414)|Ovarian(80;0.07)	140			EGF-like 3; calcium-binding (Potential).		Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.419A>C	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637175	0.87760	.	.	ENSG00000159307	ENST00000360835;ENST00000434132;ENST00000290460	D;D	0.96522	-4.04;-4.04	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.975;0.999	D	0.92922	0.6356	10	0.13470	T	0.59	.	14.8172	0.70045	0.0:0.0:0.0:1.0	.	140;140	B1AH90;Q8IWY4	.;SCUB1_HUMAN	A	140	ENSP00000354080:E140A;ENSP00000290460:E140A	ENSP00000290460:E140A	E	-	2	0	SCUBE1	42017061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.686000	0.84128	2.077000	0.62373	0.533000	0.62120	GAG		0.547	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		33	110	0	0	0	1	0	33	110					G	43687117	T	G	43687117	3	3	79	1	0	0	0	0	1	0	0	0	13994	1551	54	4	2623	4	SCUBE1	22	43687117	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	52215	43687117	7617449	21088	31405											
SCUBE1	80274	broad.mit.edu	37	chr22	43687179	43687179	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattattgtcctgacactcGtccacatctgtgagaaaagg	8	11	1	2	rs148070276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	ENST00000360835.4	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	119	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(355-357)gaC>gaT		signal peptide, CUB domain, EGF-like 1		G		0,4406		0,0,2203	88	62	71		357	-9.3	0.2	22	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCUBE1	NM_173050.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		119/989	43687179	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43687179G>A		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.357C>T	22.37:g.43687179G>A						SCUBE1_ENST00000290460.7_Silent_p.D119D	p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			4	483	-		all_neural(38;0.0414)|Ovarian(80;0.07)	119			EGF-like 3; calcium-binding (Potential).		Q5R336	Silent	SNP	ENST00000360835.4	37	c.357C>T	CCDS14048.1																																																																																				0.542	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		38	158	0	0	0	1	0	38	158					A	43687179	G	A	43687179	2	1	79	1	0	0	0	0	0	0	0	1	13994	1136	40	1		1	SCUBE1	22	43687179	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	43687179	7617387	21089	31406											
EFCAB6	64800	broad.mit.edu	37	chr22	43936061	43936061	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agctcctgagtgggcaatgaGagggcagatctggtgccttc	15	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43936061G>A	ENST00000262726.7	-	28	4078	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1123L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1275					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)				TGGGCAATGAGAGGGCAGATC	0.622																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3823-3825)ctC>ctT		EF-hand calcium binding domain 6							102	87	92					22																	43936061		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43936061G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3825C>T	22.37:g.43936061G>A						EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.L1123L	p.L1275L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			28	4078	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1275					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.3825C>T	CCDS14049.1																																																																																				0.622	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		52	279	0	0	0	1	0	52	279					A	43936061	G	A	43936061	2	1	79	1	0	0	0	0	0	0	0	1	4955	929	33	2		2	EFCAB6	22	43936061	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	248882	43936061	7368505	21090	31407											
EFCAB6	64800	broad.mit.edu	37	chr22	43950755	43950755	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcgtttcttacctgttcGtccgtcaggatttggacgcg	12	11	2	0	rs375120220		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43950755G>A	ENST00000262726.7	-	27	3895	c.3642C>T	c.(3640-3642)gaC>gaT	p.D1214D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.D1062D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1214	EF-hand 14. {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)				TTACCTGTTCGTCCGTCAGGA	0.512																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3640-3642)gaC>gaT		EF-hand calcium binding domain 6		G	,	0,4406		0,0,2203	119	106	110		3642,3186	-6.4	0	22		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EFCAB6	NM_022785.3,NM_198856.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1214/1502,1062/1350	43950755	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43950755G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3642C>T	22.37:g.43950755G>A						EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Silent_p.D1062D	p.D1214D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			27	3895	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1214			EF-hand 14.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.3642C>T	CCDS14049.1																																																																																				0.512	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		95	401	0	0	0	1	0	95	401					A	43950755	G	A	43950755	2	1	79	1	0	0	0	0	0	0	0	1	4955	1136	40	1		1	EFCAB6	22	43950755	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14694	43950755	7353811	21091	31408											
EFCAB6	64800	broad.mit.edu	37	chr22	44028018	44028018	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcctcctagggaaaagCttcaggcattcttctgcggt	10	11	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44028018C>A	ENST00000262726.7	-	19	2452	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	733					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)				TAGGGAAAAGCTTCAGGCATT	0.562																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2197-2199)aaG>aaT		EF-hand calcium binding domain 6							114	115	114					22																	44028018		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44028018C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2199G>T	22.37:g.44028018C>A	ENSP00000262726:p.Lys733Asn					EFCAB6_ENST00000396231.2_Missense_Mutation_p.K581N	p.K733N	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			19	2452	-		Ovarian(80;0.0247)|all_neural(38;0.025)	733					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2199G>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457970	0.26161	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.15139	2.45;2.45	4.61	-7.35	0.01422	EF-hand-like domain (1);	0.966024	0.08569	N	0.926282	T	0.16257	0.0391	L	0.36672	1.1	0.09310	N	1	P;P	0.48016	0.904;0.698	P;B	0.48227	0.571;0.201	T	0.06789	-1.0807	10	0.18276	T	0.48	-4.4141	15.3777	0.74625	0.0:0.7746:0.0:0.2254	.	581;733	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	N	581;733	ENSP00000379533:K581N;ENSP00000262726:K733N	ENSP00000262726:K733N	K	-	3	2	EFCAB6	42359351	0.000000	0.05858	0.000000	0.03702	0.553000	0.35397	-1.587000	0.02108	-1.767000	0.01300	-0.302000	0.09304	AAG		0.562	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		120	555	1	0	3.04319e-57	1	3.81129e-57	120	555					A	44028018	C	A	44028018	3	1	79	1	0	0	0	0	1	0	0	0	4955	796	28	3	2362	3	EFCAB6	22	44028018	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77263	44028018	7276548	21092	31409											
EFCAB6	64800	broad.mit.edu	37	chr22	44074024	44074024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatatcgaaattcttctcttGttatcggtccatcgggtttc	7	9	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44074024G>A	ENST00000262726.7	-	13	1524	c.1271C>T	c.(1270-1272)aCa>aTa	p.T424I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I|EFCAB6_ENST00000358439.4_3'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	424	EF-hand 4. {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)				TTCTTCTCTTGTTATCGGTCC	0.343																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1270-1272)aCa>aTa		EF-hand calcium binding domain 6							84	83	83					22																	44074024		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44074024G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1271C>T	22.37:g.44074024G>A	ENSP00000262726:p.Thr424Ile					EFCAB6_ENST00000396231.2_Missense_Mutation_p.T272I|EFCAB6_ENST00000358439.4_3'UTR	p.T424I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			13	1524	-		Ovarian(80;0.0247)|all_neural(38;0.025)	424			EF-hand 4.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1271C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552644	0.45487	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.86030	-2.06;-2.06	4.96	1.56	0.23342	EF-hand-like domain (1);	0.232653	0.32901	N	0.005510	D	0.89815	0.6824	M	0.87547	2.89	0.09310	N	1	P	0.49090	0.919	P	0.57371	0.819	T	0.81697	-0.0815	10	0.54805	T	0.06	-8.9726	7.7694	0.28999	0.0:0.1602:0.5085:0.3313	.	424	Q5THR3	EFCB6_HUMAN	I	272;424	ENSP00000379533:T272I;ENSP00000262726:T424I	ENSP00000262726:T424I	T	-	2	0	EFCAB6	42405357	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.779000	0.26746	0.320000	0.23234	0.650000	0.86243	ACA		0.343	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		55	215	0	0	0	1	0	55	215					A	44074024	G	A	44074024	3	1	79	1	0	0	0	0	1	0	0	0	4955	1377	48	2	3314	2	EFCAB6	22	44074024	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46006	44074024	7230542	21093	31410											
EFCAB6	64800	broad.mit.edu	37	chr22	44131843	44131843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatcaatgagctcaaaggCtttcataacagtcttaatgt	6	8	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44131843C>T	ENST00000262726.7	-	7	791	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	180	EF-hand 2. {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)				AGCTCAAAGGCTTTCATAACA	0.368																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(538-540)Gcc>Acc		EF-hand calcium binding domain 6							121	115	117					22																	44131843		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44131843C>T	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.538G>A	22.37:g.44131843C>T	ENSP00000262726:p.Ala180Thr					EFCAB6_ENST00000396231.2_Missense_Mutation_p.A28T|EFCAB6_ENST00000356087.4_Missense_Mutation_p.A74T|EFCAB6_ENST00000358439.4_Missense_Mutation_p.A74T	p.A180T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			7	791	-		Ovarian(80;0.0247)|all_neural(38;0.025)	180			EF-hand 2.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.538G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024267	0.54683	.	.	ENSG00000186976	ENST00000396231;ENST00000262726;ENST00000358439;ENST00000356087	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.14	5.14	0.70334	EF-hand-like domain (1);	0.189738	0.31859	N	0.006945	T	0.53190	0.1781	M	0.83118	2.625	0.29855	N	0.828138	D;D;D;P	0.65815	0.976;0.995;0.962;0.851	P;D;P;B	0.64144	0.606;0.922;0.681;0.307	T	0.54642	-0.8263	10	0.20519	T	0.43	-25.4603	6.6988	0.23213	0.2817:0.6351:0.0:0.0833	.	74;74;180;180	B4DKR4;B0QYI5;Q5THR3-6;Q5THR3	.;.;.;EFCB6_HUMAN	T	28;180;74;74	ENSP00000379533:A28T;ENSP00000262726:A180T;ENSP00000351219:A74T;ENSP00000348391:A74T	ENSP00000262726:A180T	A	-	1	0	EFCAB6	42463176	0.994000	0.37717	0.875000	0.34327	0.886000	0.51366	1.392000	0.34486	2.835000	0.97688	0.591000	0.81541	GCC		0.368	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		75	336	0	0	0	1	0	75	336					T	44131843	C	T	44131843	3	4	79	1	0	0	0	0	1	0	0	0	4955	797	28	2	4071	2	EFCAB6	22	44131843	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57819	44131843	7172723	21094	31411											
SULT4A1	25830	broad.mit.edu	37	chr22	44234874	44234874	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgagccatatagatgacCtgtgggtgacaggagcagga	15	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44234874C>A	ENST00000330884.4	-	4	502		c.e4-1		SULT4A1_ENST00000249130.5_Splice_Site|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TATAGATGACCTGTGGGTGAC	0.582																																						ENST00000330884.4																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.e4-1		sulfotransferase family 4A, member 1							120	89	99					22																	44234874		2203	4300	6503	SO:0001630	splice_region_variant	25830				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr22:44234874C>A	AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.382-1G>T	22.37:g.44234874C>A						SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Splice_Site		NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)	4	502	-		Ovarian(80;0.024)|all_neural(38;0.0416)						B2R7N3|O43728	Splice_Site	SNP	ENST00000330884.4	37		CCDS14051.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726121	0.69074	.	.	ENSG00000130540	ENST00000330884;ENST00000249130	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7041	0.85367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SULT4A1	42566207	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.396000	0.79891	2.175000	0.68902	0.655000	0.94253	.		0.582	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	NM_014351	Intron	62	260	1	0	1.08241e-25	1	1.24348e-25	62	260					A	44234874	C	A	44234874	5	1	79	1	0	0	0	0	0	0	1	0	15435	695	24	3	489	3	SULT4A1	22	44234874	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	103031	44234874	7069692	21095	31412											
SAMM50	25813	broad.mit.edu	37	chr22	44364674	44364674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggaatttttagacaagtgGatgttttgattgacacatgt	10	3	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44364674G>A	ENST00000350028.4	+	4	455	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SAMM50_ENST00000396202.3_De_novo_Start_InFrame|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	100					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)				TAGACAAGTGGATGTTTTGAT	0.368																																						ENST00000350028.4																			0				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(298-300)Gat>Aat		SAMM50 sorting and assembly machinery component							114	119	117					22																	44364674		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44364674G>A	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.298G>A	22.37:g.44364674G>A	ENSP00000345445:p.Asp100Asn					SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_De_novo_Start_InFrame	p.D100N	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			4	455	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	100					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.298G>A	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103707	0.37145	.	.	ENSG00000100347	ENST00000350028	T	0.29397	1.57	4.92	4.92	0.64577	.	0.052819	0.85682	D	0.000000	T	0.15609	0.0376	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.08472	-1.0720	10	0.02654	T	1	-35.8104	17.478	0.87666	0.0:0.0:1.0:0.0	.	100	Q9Y512	SAM50_HUMAN	N	100	ENSP00000345445:D100N	ENSP00000345445:D100N	D	+	1	0	SAMM50	42696007	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GAT		0.368	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		88	406	0	0	0	1	0	88	406					A	44364674	G	A	44364674	3	1	79	1	0	0	0	0	1	0	0	0	13879	1174	41	2	312	2	SAMM50	22	44364674	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129800	44364674	6939892	21096	31413											
SAMM50	25813	broad.mit.edu	37	chr22	44368124	44368124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttttatttaggtgatgacGcacttccaaatgggttagac	9	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368124G>A	ENST00000350028.4	+	5	488	c.331G>A	c.(331-333)Gca>Aca	p.A111T	SAMM50_ENST00000396202.3_Intron|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	111					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)		p.A111S(1)		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)				AGGTGATGACGCACTTCCAAA	0.363																																						ENST00000350028.4																			1	Substitution - Missense(1)	p.A111S(1)	lung(1)	endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(331-333)Gca>Aca		SAMM50 sorting and assembly machinery component							127	117	120					22																	44368124		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44368124G>A	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.331G>A	22.37:g.44368124G>A	ENSP00000345445:p.Ala111Thr					SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	p.A111T	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN			5	488	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	111					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.331G>A	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178579	0.94846	.	.	ENSG00000100347	ENST00000350028	T	0.48836	0.8	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.71170	-0.4671	10	0.41790	T	0.15	-25.4133	17.1579	0.86796	0.0:0.0:1.0:0.0	.	111	Q9Y512	SAM50_HUMAN	T	111	ENSP00000345445:A111T	ENSP00000345445:A111T	A	+	1	0	SAMM50	42699457	1.000000	0.71417	0.773000	0.31616	0.992000	0.81027	9.500000	0.97977	2.364000	0.80123	0.655000	0.94253	GCA		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		7	316	0	0	0	1	0	7	316					A	44368124	G	A	44368124	3	1	79	1	0	0	0	0	1	0	0	0	13879	1087	38	1	349	1	SAMM50	22	44368124	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3450	44368124	6936442	21097	31414											
PARVB	29780	broad.mit.edu	37	chr22	44559756	44559756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtccacaatgtgtccttcGcctttgagctgatgctggac	11	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	ENST00000338758.7	+	12	1027	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	322	CH 2. {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)		p.A355T(1)		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)				TGTGTCCTTCGCCTTTGAGCT	0.627																																						ENST00000338758.6																			1	Substitution - Missense(1)	p.A355T(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(964-966)Gcc>Acc		parvin, beta							130	94	107					22																	44559756		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44559756G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"Parvins"	14653	protein-coding gene	gene with protein product	"affixin"	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.964G>A	22.37:g.44559756G>A	ENSP00000342492:p.Ala322Thr					PARVB_ENST00000404989.1_Missense_Mutation_p.A285T|PARVB_ENST00000406477.3_Missense_Mutation_p.A355T	p.A322T	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			12	1027	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	322			CH 2.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.964G>A	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176810	0.78564	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	T;T;T	0.71579	-0.58;-0.58;-0.58	5.42	4.41	0.53225	Calponin homology domain (5);	0.050704	0.85682	D	0.000000	D	0.84325	0.5447	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	P;D;D;D	0.71870	0.899;0.959;0.975;0.971	D	0.85234	0.1034	10	0.87932	D	0	-0.2485	6.9974	0.24791	0.0882:0.0:0.7402:0.1716	.	322;285;322;355	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	T	355;322;285	ENSP00000384515:A355T;ENSP00000342492:A322T;ENSP00000384353:A285T	ENSP00000342492:A322T	A	+	1	0	PARVB	42891089	1.000000	0.71417	0.892000	0.35008	0.965000	0.64279	3.890000	0.56220	1.290000	0.44636	0.491000	0.48974	GCC		0.627	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		41	336	0	0	0	1	0	41	336					A	44559756	G	A	44559756	3	1	79	1	0	0	0	0	1	0	0	0	11511	1087	38	1	1229	1	PARVB	22	44559756	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	191632	44559756	6744810	21098	31415											
PARVG	64098	broad.mit.edu	37	chr22	44583713	44583713	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcacattgtggtccgcagcCtggaggaggacatgttcgac	14	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	ENST00000444313.3	+	5	686	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_ENST00000422871.1_Silent_p.L68L|PARVG_ENST00000415224.1_Silent_p.L68L	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	68	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGTCCGCAGCCTGGAGGAGGA	0.602																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(202-204)Ctg>Ttg		parvin, gamma							181	135	151					22																	44583713		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44583713C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.202C>T	22.37:g.44583713C>T						PARVG_ENST00000444313.2_Silent_p.L68L|PARVG_ENST00000415224.1_Silent_p.L68L	p.L68L	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			5	626	+		Ovarian(80;0.024)|all_neural(38;0.0299)	68			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.202C>T	CCDS14057.1																																																																																				0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		57	262	0	0	0	1	0	57	262					T	44583713	C	T	44583713	2	4	79	1	0	0	0	0	0	0	0	1	11512	680	24	2		2	PARVG	22	44583713	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23957	44583713	6720853	21099	31416											
PARVG	64098	broad.mit.edu	37	chr22	44586501	44586501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaagcgcttccagcccgaCctctccctcccaaccaacgt	6	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	ENST00000444313.3	+	7	943	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_ENST00000422871.1_Silent_p.D153D|PARVG_ENST00000415224.1_Silent_p.D153D	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	153					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCAGCCCGACCTCTCCCTCC	0.607																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(457-459)gaC>gaT		parvin, gamma							98	78	85					22																	44586501		2203	4300	6503	SO:0001819	synonymous_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44586501C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.459C>T	22.37:g.44586501C>T						PARVG_ENST00000444313.2_Silent_p.D153D|PARVG_ENST00000415224.1_Silent_p.D153D	p.D153D	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			7	883	+		Ovarian(80;0.024)|all_neural(38;0.0299)	153					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Silent	SNP	ENST00000444313.3	37	c.459C>T	CCDS14057.1																																																																																				0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		68	312	0	0	0	1	0	68	312					T	44586501	C	T	44586501	2	4	79	1	0	0	0	0	0	0	0	1	11512	506	18	2		2	PARVG	22	44586501	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2788	44586501	6718065	21100	31417											
PARVG	64098	broad.mit.edu	37	chr22	44602221	44602221	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaacaaggatgccaagaGcacactgagggtgctctatg	13	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	ENST00000444313.3	+	14	1395	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_ENST00000422871.1_Missense_Mutation_p.S304I|PARVG_ENST00000415224.1_Missense_Mutation_p.S304I	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	304	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GATGCCAAGAGCACACTGAGG	0.602																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(910-912)aGc>aTc		parvin, gamma							85	79	81					22																	44602221		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44602221G>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.911G>T	22.37:g.44602221G>T	ENSP00000391583:p.Ser304Ile					PARVG_ENST00000444313.2_Missense_Mutation_p.S304I|PARVG_ENST00000415224.1_Missense_Mutation_p.S304I	p.S304I	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			14	1335	+		Ovarian(80;0.024)|all_neural(38;0.0299)	304			CH 2.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.911G>T	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090273	0.36855	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.64618	-0.11;-0.11;-0.11	4.0	1.33	0.21861	Calponin homology domain (5);	0.428844	0.24779	N	0.035679	T	0.71500	0.3347	L	0.58810	1.83	0.43777	D	0.996304	D	0.89917	1.0	D	0.85130	0.997	T	0.69323	-0.5175	10	0.39692	T	0.17	-4.3916	11.0206	0.47715	0.0:0.5995:0.4005:0.0	.	304	Q9HBI0	PARVG_HUMAN	I	304	ENSP00000391453:S304I;ENSP00000391583:S304I;ENSP00000416761:S304I	ENSP00000416761:S304I	S	+	2	0	PARVG	42933554	1.000000	0.71417	0.992000	0.48379	0.091000	0.18340	3.476000	0.53143	0.731000	0.32448	0.491000	0.48974	AGC		0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		45	268	1	0	6.23363e-37	1	7.47573e-37	45	268					T	44602221	G	T	44602221	3	4	79	1	0	0	0	0	1	0	0	0	11512	971	34	3	957	3	PARVG	22	44602221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15720	44602221	6702345	21101	31418											
KIAA1644	85352	broad.mit.edu	37	chr22	44681381	44681381	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgtgtgcacggcctgtgGggcttgtggcagcgggcctg	18	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44681381G>A	ENST00000381176.4	-	4	658	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	176						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)				ACGGCCTGTGGGGCTTGTGGC	0.687																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(526-528)Cca>Tca		KIAA1644							52	56	55					22																	44681381		2054	4201	6255	SO:0001583	missense	85352					integral to membrane		g.chr22:44681381G>A	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.526C>T	22.37:g.44681381G>A	ENSP00000370568:p.Pro176Ser						p.P176S	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			4	658	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	176					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	ENST00000381176.4	37	c.526C>T	CCDS43025.1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063153	0.08388	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.06	2.83	0.33086	.	0.164918	0.39407	N	0.001376	T	0.15046	0.0363	N	0.03608	-0.345	0.30181	N	0.800376	B	0.06786	0.001	B	0.10450	0.005	T	0.20974	-1.0259	8	0.10377	T	0.69	-29.3991	5.7321	0.18047	0.1539:0.1923:0.6538:0.0	.	176	Q3SXP7	K1644_HUMAN	S	176	.	ENSP00000370568:P176S	P	-	1	0	KIAA1644	43012714	1.000000	0.71417	0.999000	0.59377	0.357000	0.29423	1.915000	0.39976	2.345000	0.79718	0.561000	0.74099	CCA		0.687	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		104	477	0	0	0	1	0	104	477					A	44681381	G	A	44681381	3	1	79	1	0	0	0	0	1	0	0	0	8280	1232	43	2	81	2	KIAA1644	22	44681381	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79160	44681381	6623185	21102	31419											
LDOC1L	84247	broad.mit.edu	37	chr22	44893032	44893032	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacacaaggaaggccacacgCtcggcctcacccgggaagcg	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893032C>A	ENST00000341255.3	-	2	914	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	135										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		AGGCCACACGCTCGGCCTCAC	0.627																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(403-405)gaG>gaT		leucine zipper, down-regulated in cancer 1-like							40	43	42					22																	44893032		2203	4300	6503	SO:0001583	missense	84247							g.chr22:44893032C>A	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.405G>T	22.37:g.44893032C>A	ENSP00000340434:p.Glu135Asp						p.E135D	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	914	-		Ovarian(80;0.024)|all_neural(38;0.0416)	135					Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	c.405G>T	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056134	0.36277	.	.	ENSG00000188636	ENST00000341255	T	0.19105	2.17	3.27	2.24	0.28232	.	0.000000	0.47093	D	0.000258	T	0.11110	0.0271	N	0.24115	0.695	0.27200	N	0.960198	P	0.35745	0.518	B	0.36418	0.224	T	0.19516	-1.0303	10	0.14252	T	0.57	-14.7816	6.5382	0.22365	0.0:0.8664:0.0:0.1336	.	135	Q6ICC9	LDOCL_HUMAN	D	135	ENSP00000340434:E135D	ENSP00000340434:E135D	E	-	3	2	LDOC1L	43271696	0.992000	0.36948	1.000000	0.80357	0.991000	0.79684	0.504000	0.22626	0.956000	0.37904	0.591000	0.81541	GAG		0.627	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		40	180	1	0	8.20599e-20	1	9.16906e-20	40	180					A	44893032	C	A	44893032	3	1	79	1	0	0	0	0	1	0	0	0	8741	796	28	3	318	3	LDOC1L	22	44893032	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	211651	44893032	6411534	21103	31420											
LDOC1L	84247	broad.mit.edu	37	chr22	44893044	44893044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacacgctcggcctcaccCgggaagcgggaggcctggaa	15	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893044C>T	ENST00000341255.3	-	2	902	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGGCCTCACCCGGGAAGCGGG	0.632																																						ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(391-393)ccG>ccA		leucine zipper, down-regulated in cancer 1-like							38	42	41					22																	44893044		2203	4300	6503	SO:0001819	synonymous_variant	84247							g.chr22:44893044C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.393G>A	22.37:g.44893044C>T							p.P131P	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	902	-		Ovarian(80;0.024)|all_neural(38;0.0416)	131					Q6ZTR1	Silent	SNP	ENST00000341255.3	37	c.393G>A	CCDS33662.1																																																																																				0.632	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		39	200	0	0	0	1	0	39	200					T	44893044	C	T	44893044	2	4	79	1	0	0	0	0	0	0	0	1	8741	639	23	1		1	LDOC1L	22	44893044	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12	44893044	6411522	21104	31421											
PRR5	55615	broad.mit.edu	37	chr22	45132743	45132743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacacgcctctgctgaaCcccgtgcaggagcacgaggc	11	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45132743C>T	ENST00000336985.6	+	8	1060	c.783C>T	c.(781-783)aaC>aaT	p.N261N	PRR5_ENST00000403581.1_Silent_p.N284N|PRR5_ENST00000006251.7_Silent_p.N252N|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	261					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CTCTGCTGAACCCCGTGCAGG	0.692																																						ENST00000403581.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11						c.(850-852)aaC>aaT		proline rich 5 (renal)							32	39	37					22																	45132743		2199	4291	6490	SO:0001819	synonymous_variant	55615							g.chr22:45132743C>T	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"protein observed with Rictor-1"	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.783C>T	22.37:g.45132743C>T						PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Silent_p.N261N|ARHGAP8_ENST00000517296.3_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000361473.5_Intron	p.N284N	NM_001198721.1	NP_001185650.1				UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	10	1461	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)						B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000336985.6	37	c.852C>T	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.558343	0.27827	.	.	ENSG00000186654	ENST00000455389	.	.	.	5.41	3.19	0.36642	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	.	4.884	0.13694	0.1335:0.5366:0.2472:0.0827	.	.	.	.	I	221	.	.	T	+	2	0	PRR5	43511407	0.943000	0.32029	1.000000	0.80357	0.896000	0.52359	0.073000	0.14640	1.267000	0.44247	0.313000	0.20887	ACC		0.692	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		114	416	0	0	0	1	0	114	416					T	45132743	C	T	45132743	2	4	79	1	0	0	0	0	0	0	0	1	12647	506	18	2		2	PRR5	22	45132743	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	239699	45132743	6171823	21105	31422											
ARHGAP8	23779	broad.mit.edu	37	chr22	45255624	45255624	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaggtgtggagagcagCctgcgtgtcactggctgccg	15	12	1	1	rs144257107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45255624C>T	ENST00000389774.2	+	12	1125	c.984C>T	c.(982-984)agC>agT	p.S328S	PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S|ARHGAP8_ENST00000389773.5_Silent_p.S419S|ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|ARHGAP8_ENST00000336963.4_Intron|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.S507S	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	328	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		TGGAGAGCAGCCTGCGTGTCA	0.667																																						ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1519-1521)agC>agT									56	50	52					22																	45255624		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:45255624C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"Rho GTPase activating proteins"	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.984C>T	22.37:g.45255624C>T						ARHGAP8_ENST00000389774.2_Silent_p.S328S|ARHGAP8_ENST00000356099.6_Silent_p.S297S|ARHGAP8_ENST00000517296.3_Silent_p.S507S|ARHGAP8_ENST00000389773.5_Silent_p.S419S|ARHGAP8_ENST00000336963.4_Intron|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.S428S	p.S507S							16	1521	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.1521C>T	CCDS33664.1	.	.	.	.	.	.	.	.	.	.	C	0.881	-0.728824	0.03135	.	.	ENSG00000248405	ENST00000515632	.	.	.	4.14	0.806	0.18708	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	5.938	0.19177	0.0:0.5978:0.1399:0.2623	.	.	.	.	V	368	.	.	A	+	2	0	PRR5-ARHGAP8	43634288	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	0.876000	0.28092	0.069000	0.16605	-1.512000	0.00943	GCC		0.667	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		26	157	0	0	0	1	0	26	157					T	45255624	C	T	45255624	2	4	79	1	0	0	0	0	0	0	0	1	888	738	26	2		2	ARHGAP8	22	45255624	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	122881	45255624	6048942	21106	31423											
PHF21B	112885	broad.mit.edu	37	chr22	45309858	45309858	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgacctggaagatgccatgGaggggtgaaggggacagtga	18	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45309858G>A	ENST00000313237.5	-	5	825	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	225							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGATGCCATggaggggtgaag	0.642																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(673-675)ctC>ctT		PHD finger protein 21B							57	57	57					22																	45309858		2202	4300	6502	SO:0001819	synonymous_variant	112885						zinc ion binding	g.chr22:45309858G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.675C>T	22.37:g.45309858G>A						PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron	p.L225L	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	5	825	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	225					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	ENST00000313237.5	37	c.675C>T	CCDS14061.1																																																																																				0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		100	385	0	0	0	1	0	100	385					A	45309858	G	A	45309858	2	1	79	1	0	0	0	0	0	0	0	1	11876	1161	41	2		2	PHF21B	22	45309858	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54234	45309858	5994708	21107	31424											
NUP50	10762	broad.mit.edu	37	chr22	45567527	45567527	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtcttgaagaatagagCcataaagaaagcaaagcgca	11	6	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	ENST00000347635.4	+	3	582	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D|NUP50_ENST00000425733.2_5'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	39					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGAATAGAGCCATAAAGAAA	0.403																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(115-117)gCc>gAc		nucleoporin 50kDa							118	113	115					22																	45567527		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45567527C>A	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.116C>A	22.37:g.45567527C>A	ENSP00000345895:p.Ala39Asp					NUP50_ENST00000407019.2_Missense_Mutation_p.A11D|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Missense_Mutation_p.A11D	p.A39D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	582	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	39					B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.116C>A	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342059	0.81911	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000424634;ENST00000430547;ENST00000396096;ENST00000422489	.	.	.	4.82	4.82	0.62117	Nuclear pore complex, NUP2/50/61 (1);	0.115168	0.64402	D	0.000018	T	0.69205	0.3085	M	0.68317	2.08	0.80722	D	1	D	0.61697	0.99	D	0.63703	0.917	T	0.65471	-0.6160	9	0.22109	T	0.4	-14.7002	13.265	0.60128	0.1587:0.8413:0.0:0.0	.	39	Q9UKX7	NUP50_HUMAN	D	39;11;39;39;11;39	.	ENSP00000345895:A39D	A	+	2	0	NUP50	43946191	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.659000	0.74412	2.384000	0.81235	0.563000	0.77884	GCC		0.403	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			68	374	1	0	9.42754e-34	1	1.11862e-33	68	374					A	45567527	C	A	45567527	3	1	79	1	0	0	0	0	1	0	0	0	10808	739	26	3	122	3	NUP50	22	45567527	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	257669	45567527	5737039	21108	31425											
NUP50	10762	broad.mit.edu	37	chr22	45577225	45577225	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtagttaccgaagtaaaagaAgaagatgctttttactccaa	8	6	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	ENST00000347635.4	+	6	1528	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000425733.2_Missense_Mutation_p.E104D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	354	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGTAAAAGAAGAAGATGCTT	0.418																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1060-1062)gaA>gaC		nucleoporin 50kDa							81	83	82					22																	45577225		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45577225A>C	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"nucleoporin 50kD"	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1062A>C	22.37:g.45577225A>C	ENSP00000345895:p.Glu354Asp					NUP50_ENST00000407019.2_Missense_Mutation_p.E326D|NUP50_ENST00000425733.2_Missense_Mutation_p.E104D|NUP50_ENST00000396096.2_Missense_Mutation_p.E326D	p.E354D	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1528	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	354			RanBD1.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.1062A>C	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920281	0.73098	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096;ENST00000422489	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.72	3.58	0.41010	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.70275	2.135	0.58432	D	0.999998	D;P	0.60160	0.987;0.919	D;D	0.79108	0.992;0.934	T	0.47018	-0.9149	10	0.20046	T	0.44	-42.6985	9.3837	0.38329	0.7895:0.0:0.2105:0.0	.	104;354	B4E2D3;Q9UKX7	.;NUP50_HUMAN	D	354;326;104;326;133	ENSP00000345895:E354D;ENSP00000385555:E326D;ENSP00000406928:E104D;ENSP00000379403:E326D;ENSP00000416264:E133D	ENSP00000345895:E354D	E	+	3	2	NUP50	43955889	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	0.711000	0.25764	0.422000	0.26005	0.529000	0.55759	GAA		0.418	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			48	252	0	0	0	1	0	48	252					C	45577225	A	C	45577225	3	2	79	1	0	0	0	0	1	0	0	0	10808	69	3	4	1080	4	NUP50	22	45577225	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	9698	45577225	5727341	21109	31426											
C22orf9	23313	broad.mit.edu	37	chr22	45601152	45601152	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggtagctgatcttggactcCtcccccttgctgtccatggg	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45601152C>A	ENST00000336156.5	-	5	527	c.462G>T	c.(460-462)gaG>gaT	p.E154D	KIAA0930_ENST00000391627.2_Missense_Mutation_p.E120D|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E159D|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E136D	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	154										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCTTGGACTCCTCCCCCTTGC	0.567																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(460-462)gaG>gaT		KIAA0930							178	140	153					22																	45601152		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45601152C>A	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.462G>T	22.37:g.45601152C>A	ENSP00000336720:p.Glu154Asp					KIAA0930_ENST00000443310.3_Missense_Mutation_p.E136D|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E159D|KIAA0930_ENST00000391627.2_Missense_Mutation_p.E120D	p.E154D	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			5	527	-			154					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.462G>T	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141118	0.56936	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	4.39	-3.56	0.04626	.	0.097389	0.64402	D	0.000002	T	0.62368	0.2422	L	0.46741	1.465	0.58432	D	0.999997	D;D;B;P	0.57257	0.979;0.961;0.433;0.659	D;P;B;B	0.71414	0.973;0.63;0.172;0.401	T	0.58624	-0.7604	9	0.30078	T	0.28	-31.1866	12.9675	0.58492	0.0:0.5595:0.0:0.4405	.	136;154;159;225	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	D	154;39;159;120;136;120;136	.	ENSP00000251993:E159D	E	-	3	2	KIAA0930	43979816	0.937000	0.31787	0.916000	0.36221	0.919000	0.55068	0.113000	0.15499	-1.272000	0.02427	-1.134000	0.01955	GAG		0.567	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		71	314	1	0	1.08321e-29	1	1.26665e-29	71	314					A	45601152	C	A	45601152	3	1	79	1	0	0	0	0	1	0	0	0	2158	680	24	3	776	3	C22orf9	22	45601152	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23927	45601152	5703414	21110	31427											
SMC1B	27127	broad.mit.edu	37	chr22	45767427	45767427	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cactcaacataatacattgaGactcaatatttagtagttca	4	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45767427G>A	ENST00000357450.4	-	14	2236	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	746					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)		AATACATTGAGACTCAATATT	0.289																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2236-2238)tCt>tTt		structural maintenance of chromosomes 1B							94	84	87					22																	45767427		1815	4065	5880	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45767427G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2237C>T	22.37:g.45767427G>A	ENSP00000350036:p.Ser746Phe					SMC1B_ENST00000404354.3_Missense_Mutation_p.S746F	p.S746F	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	14	2236	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	746					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2237C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634746	0.67130	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79749	-1.3;-1.14	5.66	5.66	0.87406	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000019	D	0.87569	0.6210	L	0.60455	1.87	0.47994	D	0.999563	P;D;P	0.63880	0.543;0.993;0.92	P;D;P	0.65443	0.719;0.935;0.783	D	0.87998	0.2754	10	0.66056	D	0.02	.	17.5125	0.87764	0.0:0.0:1.0:0.0	.	746;746;746	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	F	746	ENSP00000350036:S746F;ENSP00000385902:S746F	ENSP00000350036:S746F	S	-	2	0	SMC1B	44146091	1.000000	0.71417	0.992000	0.48379	0.522000	0.34438	5.567000	0.67378	2.669000	0.90835	0.655000	0.94253	TCT		0.289	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		41	128	0	0	0	1	0	41	128					A	45767427	G	A	45767427	3	1	79	1	0	0	0	0	1	0	0	0	14832	942	33	2	1518	2	SMC1B	22	45767427	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	166275	45767427	5537139	21111	31428											
SMC1B	27127	broad.mit.edu	37	chr22	45804686	45804686	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaataggttttccaatatgtGctccatgaatgagttcttga	8	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45804686G>A	ENST00000357450.4	-	2	202	c.203C>T	c.(202-204)gCa>gTa	p.A68V	SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	68					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)		TCCAATATGTGCTCCATGAAT	0.338																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(202-204)gCa>gTa		structural maintenance of chromosomes 1B							122	117	118					22																	45804686		1806	4072	5878	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45804686G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.203C>T	22.37:g.45804686G>A	ENSP00000350036:p.Ala68Val					SMC1B_ENST00000404354.3_Missense_Mutation_p.A68V	p.A68V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	2	202	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	68					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.203C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236098	0.95240	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09817	2.94;3.25	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000011	T	0.38931	0.1059	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.15093	-1.0449	10	0.72032	D	0.01	.	19.8667	0.96806	0.0:0.0:1.0:0.0	.	68;68	Q8NDV3-2;Q8NDV3-3	.;.	V	68	ENSP00000350036:A68V;ENSP00000385902:A68V	ENSP00000350036:A68V	A	-	2	0	SMC1B	44183350	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.066000	0.93949	2.773000	0.95371	0.655000	0.94253	GCA		0.338	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		11	415	0	0	0	1	0	11	415					A	45804686	G	A	45804686	3	1	79	1	0	0	0	0	1	0	0	0	14832	1319	46	2	3600	2	SMC1B	22	45804686	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	37259	45804686	5499880	21112	31429											
FBLN1	2192	broad.mit.edu	37	chr22	45946495	45946495	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgccgctccgcagccaCgtaagtcccttggaccatgc	9	18	0	0	rs151076402	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	ENST00000327858.6	+	14	1792	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	FBLN1_ENST00000348697.2_Splice_Site_p.T566M|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Splice_Site_p.T566I|FBLN1_ENST00000340923.5_Splice_Site_p.T566I|FBLN1_ENST00000402984.3_Splice_Site_p.T604I|FBLN1_ENST00000442170.2_Splice_Site_p.T566M	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	566	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		TCCGCAGCCACGTAAGTCCCT	0.612													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		21109	0.0		0.0	False		,,,				2504	0.0					ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.e14+1		fibulin 1		C	ILE/THR,MET/THR,MET/THR,ILE/THR	20,4386	27.2+/-55.0	0,20,2183	86	78	81		1697,1697,1697,1697	3.8	1	22	dbSNP_134	81	0,8600		0,0,4300	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	FBLN1	NM_001996.3,NM_006485.3,NM_006486.2,NM_006487.2	89,81,81,89	0,20,6483	TT,TC,CC		0.0,0.4539,0.1538	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	566/684,566/602,566/704,566/567	45946495	20,12986	2203	4300	6503	SO:0001630	splice_region_variant	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45946495C>T		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.1697+1C>T	22.37:g.45946495C>T						FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000327858.6_Splice_Site_p.T566_splice|FBLN1_ENST00000442170.2_Splice_Site_p.T566_splice|FBLN1_ENST00000402984.3_Splice_Site_p.T604_splice|FBLN1_ENST00000340923.5_Splice_Site_p.T566_splice|FBLN1_ENST00000262722.7_Splice_Site_p.T566_splice	p.T566_splice			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	14	1844	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	566			EGF-like 9; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Splice_Site	SNP	ENST00000327858.6	37	c.1697_splice	CCDS14067.1	6|6	0.0027472527472527475|0.0027472527472527475	4|4	0.008130081300813009|0.008130081300813009	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	C|C	13.03|13.03	2.115394|2.115394	0.37339|0.37339	0.004539|0.004539	0.0|0.0	ENSG00000077942|ENSG00000077942	ENST00000402984;ENST00000262722;ENST00000340923|ENST00000348697;ENST00000327858;ENST00000442170	D;D;D|D;D;D	0.92805|0.84146	-2.25;-3.11;-1.59|-1.7;-1.81;-1.77	4.78|4.78	3.76|3.76	0.43208|0.43208	.|Epidermal growth factor-like (1);	0.186482|0.186482	0.46145|0.46145	D|D	0.000315|0.000315	T|T	0.81597|0.81597	0.4856|0.4856	L|L	0.35288|0.35288	1.05|1.05	0.42767|0.42767	D|D	0.993825|0.993825	D;D|D;D	0.58268|0.89917	0.982;0.982|0.984;1.0	B;P|P;D	0.44623|0.69654	0.406;0.455|0.873;0.965	T|T	0.82770|0.82770	-0.0293|-0.0293	10|10	0.45353|0.46703	T|T	0.12|0.11	.|.	8.6471|8.6471	0.34011|0.34011	0.0:0.8257:0.0:0.1743|0.0:0.8257:0.0:0.1743	.|.	604;566|566;566	B1AHL2;P23142-4|P23142;B1AHL4	.;.|FBLN1_HUMAN;.	I|M	604;566;566|566	ENSP00000385521:T604I;ENSP00000262722:T566I;ENSP00000342212:T566I|ENSP00000262723:T566M;ENSP00000331544:T566M;ENSP00000393812:T566M	ENSP00000262722:T566I|ENSP00000331544:T566M	T|T	+|+	2|2	0|0	FBLN1|FBLN1	44325159|44325159	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	1.699000|1.699000	0.37804|0.37804	2.205000|2.205000	0.71048|0.71048	0.462000|0.462000	0.41574|0.41574	ACC;ACC;ACA|ACG		0.612	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	Missense_Mutation	84	390	0	0	0	1	0	84	390					T	45946495	C	T	45946495	5	4	79	1	0	0	0	0	0	0	1	0	5723	550	19	1	1751	1	FBLN1	22	45946495	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	141809	45946495	5358071	21113	31430											
ATXN10	25814	broad.mit.edu	37	chr22	46125440	46125440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcaagactgtgctcaaGctggcctctgaggagcctcc	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46125440G>A	ENST00000252934.5	+	7	1129	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ATXN10_ENST00000381061.4_Silent_p.K224K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	288					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)		CTGTGCTCAAGCTGGCCTCTG	0.502																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(862-864)aaG>aaA		ataxin 10							128	99	109					22																	46125440		2203	4300	6503	SO:0001819	synonymous_variant	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46125440G>A	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.864G>A	22.37:g.46125440G>A						ATXN10_ENST00000381061.4_Silent_p.K224K	p.K288K	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	7	1129	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	288					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Silent	SNP	ENST00000252934.5	37	c.864G>A	CCDS14070.1																																																																																				0.502	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		78	335	0	0	0	1	0	78	335					A	46125440	G	A	46125440	2	1	79	1	0	0	0	0	0	0	0	1	1211	962	34	2		2	ATXN10	22	46125440	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	178945	46125440	5179126	21114	31431											
PPARA	5465	broad.mit.edu	37	chr22	46614253	46614253	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaacagaaacaaatgccagTattgtcgatttcacaagtgc	8	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46614253T>C	ENST00000396000.2	+	5	728	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	155					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CAAATGCCAGTATTGTCGATT	0.498																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(463-465)Tat>Cat		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						221	193	203					22																	46614253		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46614253T>C	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.463T>C	22.37:g.46614253T>C	ENSP00000379322:p.Tyr155His					PPARA_ENST00000407236.1_Missense_Mutation_p.Y155H|PPARA_ENST00000402126.1_Missense_Mutation_p.Y155H|PPARA_ENST00000434345.2_Missense_Mutation_p.Y155H|PPARA_ENST00000262735.5_Missense_Mutation_p.Y155H	p.Y155H			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	5	728	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	155					B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.463T>C	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.369900	0.82573	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33	5.67	4.65	0.58169	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.116886	0.64402	D	0.000011	D	0.97173	0.9076	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96883	0.9647	10	0.66056	D	0.02	.	10.7817	0.46382	0.0:0.0738:0.0:0.9262	.	155;155	F1D8S4;Q07869	.;PPARA_HUMAN	H	155	ENSP00000379322:Y155H;ENSP00000262735:Y155H;ENSP00000385523:Y155H;ENSP00000385246:Y155H;ENSP00000408149:Y155H	ENSP00000262735:Y155H	Y	+	1	0	PPARA	44992917	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.119000	0.71590	0.981000	0.38548	0.482000	0.46254	TAT		0.498	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		130	564	0	0	0	1	0	130	564					C	46614253	T	C	46614253	3	2	79	1	0	0	0	0	1	0	0	0	12339	1638	57	4	473	4	PPARA	22	46614253	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	488813	46614253	4690313	21115	31432											
PPARA	5465	broad.mit.edu	37	chr22	46627925	46627925	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatacggagtttatgaggcCatattcgccatgctgtcttc	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46627925C>T	ENST00000396000.2	+	7	1213	c.948C>T	c.(946-948)gcC>gcT	p.A316A	PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000262735.5_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Silent_p.A316A			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	316	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	TTTATGAGGCCATATTCGCCA	0.473																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(946-948)gcC>gcT		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						142	127	132					22																	46627925		2203	4300	6503	SO:0001819	synonymous_variant	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627925C>T	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.948C>T	22.37:g.46627925C>T						PPARA_ENST00000407236.1_Silent_p.A316A|PPARA_ENST00000402126.1_Silent_p.A316A|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Silent_p.A316A	p.A316A			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1213	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	316			Ligand-binding.|Required for heterodimerization with RXRA.		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Silent	SNP	ENST00000396000.2	37	c.948C>T	CCDS33669.1																																																																																				0.473	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		18	568	0	0	0	1	0	18	568					T	46627925	C	T	46627925	2	4	79	1	0	0	0	0	0	0	0	1	12339	581	21	2		2	PPARA	22	46627925	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13672	46627925	4676641	21116	31433											
PKDREJ	10343	broad.mit.edu	37	chr22	46653832	46653832	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcactagattttgctctcacTtgcctcatcaatggaaggcc	7	12	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46653832T>G	ENST00000253255.5	-	1	5387	c.5388A>C	c.(5386-5388)caA>caC	p.Q1796H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1796					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)		TTGCTCTCACTTGCCTCATCA	0.418																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(5386-5388)caA>caC		polycystin (PKD) family receptor for egg jelly							162	164	164					22																	46653832		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653832T>G	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.5388A>C	22.37:g.46653832T>G	ENSP00000253255:p.Gln1796His						p.Q1796H	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5387	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1796					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.5388A>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.672873	0.67928	.	.	ENSG00000130943	ENST00000253255	T	0.74737	-0.87	4.8	-2.72	0.05968	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.52532	D	0.000062	T	0.81987	0.4939	M	0.78637	2.42	0.35820	D	0.824515	D	0.89917	1.0	D	0.77004	0.989	T	0.82853	-0.0252	10	0.87932	D	0	-21.0554	10.1347	0.42699	0.0:0.3969:0.0:0.6031	.	1796	Q9NTG1	PKDRE_HUMAN	H	1796	ENSP00000253255:Q1796H	ENSP00000253255:Q1796H	Q	-	3	2	PKDREJ	45032496	0.656000	0.27385	0.977000	0.42913	0.968000	0.65278	-0.152000	0.10159	-0.478000	0.06823	0.254000	0.18369	CAA		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		121	1091	0	0	0	1	0	121	1091					G	46653832	T	G	46653832	3	3	79	1	0	0	0	0	1	0	0	0	12012	1606	56	4	1377	4	PKDREJ	22	46653832	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25907	46653832	4650734	21117	31434											
PKDREJ	10343	broad.mit.edu	37	chr22	46655499	46655499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggtcccagacccccaacGacttcctgtaaaaatagtca	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655499G>A	ENST00000253255.5	-	1	3720	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1241	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				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)		GACCCCCAACGACTTCCTGTA	0.448																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3721-3723)Cgt>Tgt		polycystin (PKD) family receptor for egg jelly							91	96	94					22																	46655499		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655499G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3721C>T	22.37:g.46655499G>A	ENSP00000253255:p.Arg1241Cys						p.R1241C	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3720	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1241			PLAT.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3721C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030850	0.75504	.	.	ENSG00000130943	ENST00000253255	T	0.65364	-0.15	5.04	5.04	0.67666	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000009	D	0.83179	0.5198	M	0.90198	3.095	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.86768	0.1971	10	0.72032	D	0.01	-23.7677	17.7521	0.88438	0.0:0.0:1.0:0.0	.	1241	Q9NTG1	PKDRE_HUMAN	C	1241	ENSP00000253255:R1241C	ENSP00000253255:R1241C	R	-	1	0	PKDREJ	45034163	1.000000	0.71417	0.977000	0.42913	0.735000	0.41995	4.500000	0.60387	2.520000	0.84964	0.561000	0.74099	CGT		0.448	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		109	477	0	0	0	1	0	109	477					A	46655499	G	A	46655499	3	1	79	1	0	0	0	0	1	0	0	0	12012	1058	37	1	3044	1	PKDREJ	22	46655499	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1667	46655499	4649067	21118	31435											
PKDREJ	10343	broad.mit.edu	37	chr22	46655796	46655796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgattgtgcccagctgccGcctagcccttactacattct	7	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655796G>A	ENST00000253255.5	-	1	3423	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1142					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)		CCCAGCTGCCGCCTAGCCCTT	0.507																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3424-3426)Cgg>Tgg		polycystin (PKD) family receptor for egg jelly							185	160	169					22																	46655796		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655796G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3424C>T	22.37:g.46655796G>A	ENSP00000253255:p.Arg1142Trp						p.R1142W	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3423	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1142					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3424C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865749	0.32977	.	.	ENSG00000130943	ENST00000253255	T	0.37915	1.17	5.23	4.15	0.48705	GPS domain (1);	1.823990	0.02647	N	0.105979	T	0.57227	0.2039	M	0.64997	1.995	0.09310	N	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.40040	-0.9584	10	0.62326	D	0.03	-22.7006	4.9462	0.13991	0.0848:0.1362:0.6207:0.1583	.	1142	Q9NTG1	PKDRE_HUMAN	W	1142	ENSP00000253255:R1142W	ENSP00000253255:R1142W	R	-	1	2	PKDREJ	45034460	0.009000	0.17119	0.820000	0.32676	0.004000	0.04260	1.203000	0.32284	2.623000	0.88846	0.561000	0.74099	CGG		0.507	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		128	581	0	0	0	1	0	128	581					A	46655796	G	A	46655796	3	1	79	1	0	0	0	0	1	0	0	0	12012	1086	38	1	3341	1	PKDREJ	22	46655796	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297	46655796	4648770	21119	31436											
PKDREJ	10343	broad.mit.edu	37	chr22	46655931	46655931	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgctgaaaatagaaaTtctcactagcttgtcattga	8	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655931T>C	ENST00000253255.5	-	1	3288	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1097					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)		AAAATAGAAATTCTCACTAGC	0.473																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3289-3291)Att>Gtt		polycystin (PKD) family receptor for egg jelly							87	82	84					22																	46655931		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655931T>C	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.3289A>G	22.37:g.46655931T>C	ENSP00000253255:p.Ile1097Val						p.I1097V	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3288	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1097					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3289A>G	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.511945	0.27036	.	.	ENSG00000130943	ENST00000253255	T	0.48522	0.81	5.2	4.16	0.48862	.	0.089619	0.47455	N	0.000232	T	0.37812	0.1017	M	0.65498	2.005	0.09310	N	1	P	0.39181	0.663	B	0.33042	0.157	T	0.28332	-1.0047	10	0.26408	T	0.33	-28.9567	5.6471	0.17596	0.1503:0.0805:0.0:0.7692	.	1097	Q9NTG1	PKDRE_HUMAN	V	1097	ENSP00000253255:I1097V	ENSP00000253255:I1097V	I	-	1	0	PKDREJ	45034595	0.816000	0.29132	0.012000	0.15200	0.102000	0.19082	2.169000	0.42434	0.942000	0.37525	0.374000	0.22700	ATT		0.473	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		28	282	0	0	0	1	0	28	282					C	46655931	T	C	46655931	3	2	79	1	0	0	0	0	1	0	0	0	12012	1493	52	4	3476	4	PKDREJ	22	46655931	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	46655931	4648635	21120	31437											
PKDREJ	10343	broad.mit.edu	37	chr22	46655993	46655993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagaactatggatacaGtacagtggggagagtggctg	15	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655993G>A	ENST00000253255.5	-	1	3226	c.3227C>T	c.(3226-3228)aCt>aTt	p.T1076I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1076					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)		TATGGATACAGTACAGTGGGG	0.512																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3226-3228)aCt>aTt		polycystin (PKD) family receptor for egg jelly							48	42	44					22																	46655993		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655993G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3227C>T	22.37:g.46655993G>A	ENSP00000253255:p.Thr1076Ile						p.T1076I	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3226	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1076					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3227C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718557	0.30503	.	.	ENSG00000130943	ENST00000253255	T	0.36878	1.23	4.93	-4.29	0.03721	.	2.079570	0.01985	N	0.045099	T	0.27419	0.0673	L	0.40543	1.245	0.09310	N	1	B	0.26002	0.139	B	0.21546	0.035	T	0.33317	-0.9873	10	0.54805	T	0.06	-0.9435	5.2917	0.15731	0.2422:0.0:0.3316:0.4262	.	1076	Q9NTG1	PKDRE_HUMAN	I	1076	ENSP00000253255:T1076I	ENSP00000253255:T1076I	T	-	2	0	PKDREJ	45034657	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.064000	0.11636	-0.302000	0.08869	0.455000	0.32223	ACT		0.512	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		30	147	0	0	0	1	0	30	147					A	46655993	G	A	46655993	3	1	79	1	0	0	0	0	1	0	0	0	12012	1029	36	2	3538	2	PKDREJ	22	46655993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	62	46655993	4648573	21121	31438											
PKDREJ	10343	broad.mit.edu	37	chr22	46656713	46656713	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccagtattgtgtctgatagaGattctattacatagaaagga	9	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46656713G>T	ENST00000253255.5	-	1	2506	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	836	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTGATAGAGATTCTATTAC	0.353																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(2506-2508)tCt>tAt		polycystin (PKD) family receptor for egg jelly							65	67	66					22																	46656713		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46656713G>T	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.2507C>A	22.37:g.46656713G>T	ENSP00000253255:p.Ser836Tyr						p.S836Y	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2506	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	836			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.2507C>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424952	0.43020	.	.	ENSG00000130943	ENST00000253255	T	0.36699	1.24	5.18	3.0	0.34707	Egg jelly receptor, REJ-like (1);	0.806157	0.10979	N	0.612902	T	0.30665	0.0772	L	0.50333	1.59	0.09310	N	1	P	0.42620	0.785	B	0.41691	0.364	T	0.31779	-0.9931	10	0.59425	D	0.04	-10.9169	2.5692	0.04790	0.1803:0.1451:0.5255:0.1492	.	836	Q9NTG1	PKDRE_HUMAN	Y	836	ENSP00000253255:S836Y	ENSP00000253255:S836Y	S	-	2	0	PKDREJ	45035377	0.005000	0.15991	0.003000	0.11579	0.153000	0.21895	0.800000	0.27042	1.260000	0.44134	0.561000	0.74099	TCT		0.353	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		40	160	1	0	1.22674e-20	1	1.37621e-20	40	160					T	46656713	G	T	46656713	3	4	79	1	0	0	0	0	1	0	0	0	12012	942	33	3	4258	3	PKDREJ	22	46656713	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	720	46656713	4647853	21122	31439											
PKDREJ	10343	broad.mit.edu	37	chr22	46657717	46657717	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atccaatcaaatagcatctcAccacctgaagaagacaaaat	4	11	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46657717A>G	ENST00000253255.5	-	1	1502	c.1503T>C	c.(1501-1503)ggT>ggC	p.G501G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	501	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAGCATCTCACCACCTGAAG	0.373																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(1501-1503)ggT>ggC		polycystin (PKD) family receptor for egg jelly							153	173	166					22																	46657717		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657717A>G	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.1503T>C	22.37:g.46657717A>G							p.G501G	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1502	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	501			REJ.		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.1503T>C	CCDS14073.1																																																																																				0.373	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		237	980	0	0	0	1	0	237	980					G	46657717	A	G	46657717	2	3	79	1	0	0	0	0	0	0	0	1	12012	146	6	4		4	PKDREJ	22	46657717	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1004	46657717	4646849	21123	31440											
TTC38	55020	broad.mit.edu	37	chr22	46685356	46685356	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtggggctgcccctgtgCcaggccctggtggaggctga	18	12	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46685356C>T	ENST00000381031.3	+	12	1216	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TTC38_ENST00000445282.2_Silent_p.C322C	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	380						extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687																																						ENST00000381031.3																			0				endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						c.(1138-1140)tgC>tgT		tetratricopeptide repeat domain 38							28	36	33					22																	46685356		2085	4197	6282	SO:0001819	synonymous_variant	55020						binding	g.chr22:46685356C>T		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.1140C>T	22.37:g.46685356C>T						TTC38_ENST00000445282.2_Silent_p.C322C	p.C380C	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN			12	1216	+			380					Q8WV27|Q9NWP8	Silent	SNP	ENST00000381031.3	37	c.1140C>T	CCDS43030.1																																																																																				0.687	TTC38-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318469.1	NM_017931		33	261	0	0	0	1	0	33	261					T	46685356	C	T	46685356	2	4	79	1	0	0	0	0	0	0	0	1	16760	747	26	2		2	TTC38	22	46685356	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	27639	46685356	4619210	21124	31441											
GTSE1	51512	broad.mit.edu	37	chr22	46704391	46704391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggaggtgtacaaagaaGctcacttactggctttacac	10	9	1	1	rs554280575		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46704391G>T	ENST00000454366.1	+	4	525	c.313G>T	c.(313-315)Gct>Tct	p.A105S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTACAAAGAAGCTCACTTACT	0.567																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(313-315)Gct>Tct		G-2 and S-phase expressed 1							69	78	75					22																	46704391		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704391G>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.313G>T	22.37:g.46704391G>T	ENSP00000415430:p.Ala105Ser						p.A105S	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	525	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	86					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.313G>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757456	0.89843	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.42900	0.96	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.80616	2.505	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.72040	-0.4410	10	0.87932	D	0	-27.4575	19.5244	0.95197	0.0:0.0:1.0:0.0	.	86	Q9NYZ3	GTSE1_HUMAN	S	105;65	ENSP00000415430:A105S	ENSP00000354634:A65S	A	+	1	0	GTSE1	45083055	1.000000	0.71417	0.620000	0.29132	0.827000	0.46813	6.511000	0.73733	2.700000	0.92200	0.655000	0.94253	GCT		0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		123	424	1	0	1.45844e-59	1	1.83211e-59	123	424					T	46704391	G	T	46704391	3	4	79	1	0	0	0	0	1	0	0	0	6915	971	34	3	323	3	GTSE1	22	46704391	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19035	46704391	4600175	21125	31442											
GTSE1	51512	broad.mit.edu	37	chr22	46712143	46712143	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatcccccacccaaccccaGactccggaaggtggcggcca	10	19	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46712143G>T	ENST00000454366.1	+	7	1478	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	403					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCAACCCCAGACTCCGGAAG	0.597																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(1264-1266)caG>caT		G-2 and S-phase expressed 1							33	40	38					22																	46712143		2201	4299	6500	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46712143G>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1266G>T	22.37:g.46712143G>T	ENSP00000415430:p.Gln422His						p.Q422H	NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	7	1478	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	403					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.1266G>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872121	0.17322	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07688	3.17	4.61	3.58	0.41010	.	1.240630	0.05179	N	0.501016	T	0.10252	0.0251	L	0.34521	1.04	0.32355	N	0.558	B;B	0.28208	0.056;0.203	B;B	0.26864	0.029;0.074	T	0.21655	-1.0239	10	0.42905	T	0.14	-0.368	13.7669	0.63002	0.0:0.1554:0.8446:0.0	.	403;382	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	H	422;382	ENSP00000415430:Q422H	ENSP00000354634:Q382H	Q	+	3	2	GTSE1	45090807	0.396000	0.25262	0.114000	0.21550	0.331000	0.28603	1.576000	0.36504	1.281000	0.44480	-0.181000	0.13052	CAG		0.597	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		73	419	1	0	4.38816e-42	1	5.33856e-42	73	419					T	46712143	G	T	46712143	3	4	79	1	0	0	0	0	1	0	0	0	6915	933	33	3	1288	3	GTSE1	22	46712143	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7752	46712143	4592423	21126	31443											
CELSR1	9620	broad.mit.edu	37	chr22	46787161	46787161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgccggcctcaaatgCtttgggacagccattgtaga	11	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46787161C>T	ENST00000262738.3	-	16	6171	c.6172G>A	c.(6172-6174)Gca>Aca	p.A2058T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2058					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)		GCCTCAAATGCTTTGGGACAG	0.607											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(6172-6174)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 1							51	49	50					22																	46787161		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46787161C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6172G>A	22.37:g.46787161C>T	ENSP00000262738:p.Ala2058Thr		OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	941		p.A2058T	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	16	6171	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2058					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.6172G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384062	0.61845	.	.	ENSG00000075275	ENST00000262738	T	0.68479	-0.33	4.03	4.03	0.46877	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	U	0.000002	T	0.72859	0.3513	L	0.35593	1.075	0.80722	D	1	D;P	0.89917	1.0;0.927	D;P	0.79108	0.992;0.585	T	0.73316	-0.4021	10	0.38643	T	0.18	.	16.1498	0.81605	0.0:1.0:0.0:0.0	.	379;2058	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	T	2058	ENSP00000262738:A2058T	ENSP00000262738:A2058T	A	-	1	0	CELSR1	45165825	0.998000	0.40836	0.604000	0.28916	0.179000	0.23085	3.466000	0.53071	1.964000	0.57103	0.462000	0.41574	GCA		0.607	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		41	170	0	0	0	1	0	41	170					T	46787161	C	T	46787161	3	4	79	1	0	0	0	0	1	0	0	0	3230	797	28	2	2952	2	CELSR1	22	46787161	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	75018	46787161	4517405	21127	31444											
CELSR1	9620	broad.mit.edu	37	chr22	46859644	46859644	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaggtgtagccgccctcGcggctgcggcagcggccgtt	16	15	0	0	rs150510873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46859644G>A	ENST00000262738.3	-	2	4142	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R	CELSR1_ENST00000395964.1_Silent_p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1381	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)		AGCCGCCCTCGCGGCTGCGGC	0.687																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4141-4143)cgC>cgT		cadherin, EGF LAG seven-pass G-type receptor 1							13	11	12					22																	46859644		2095	4132	6227	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859644G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4143C>T	22.37:g.46859644G>A						CELSR1_ENST00000395964.1_Silent_p.R1381R	p.R1381R	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4142	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1381			EGF-like 2; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4143C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	4.939	0.174509	0.09391	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.22	-7.57	0.01318	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41016	-0.9532	4	.	.	.	.	0.9322	0.01338	0.373:0.1609:0.2912:0.1749	.	.	.	.	V	756	.	.	A	-	2	0	CELSR1	45238308	0.209000	0.23505	0.890000	0.34922	0.479000	0.33129	-0.551000	0.06027	-1.286000	0.02384	-2.815000	0.00110	GCG		0.687	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		20	87	0	0	0	1	0	20	87					A	46859644	G	A	46859644	2	1	79	1	0	0	0	0	0	0	0	1	3230	1074	38	1		1	CELSR1	22	46859644	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	72483	46859644	4444922	21128	31445											
CELSR1	9620	broad.mit.edu	37	chr22	46930291	46930291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggaaggtgtacagcagaCgcccattgggacctgagtcc	13	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46930291C>T	ENST00000262738.3	-	1	2776	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	926	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGCAGACGCCCATTGGG	0.632																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2776-2778)cGt>cAt		cadherin, EGF LAG seven-pass G-type receptor 1							36	33	34					22																	46930291		2200	4297	6497	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930291C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2777G>A	22.37:g.46930291C>T	ENSP00000262738:p.Arg926His					CELSR1_ENST00000395964.1_Missense_Mutation_p.R926H	p.R926H	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2776	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	926			Cadherin 7.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2777G>A	CCDS14076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.212976|3.212976	0.58452|0.58452	.|.	.|.	ENSG00000075275|ENSG00000075275	ENST00000262738;ENST00000395964|ENST00000454637	T;T|.	0.54479|.	0.57;0.57|.	4.42|4.42	4.42|4.42	0.53409|0.53409	Cadherin (4);Cadherin-like (1);|.	0.000000|.	0.64402|.	U|.	0.000012|.	T|T	0.68054|0.68054	0.2959|0.2959	L|L	0.48986|0.48986	1.54|1.54	0.40734|0.40734	D|D	0.982777|0.982777	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.67526|0.67526	-0.5648|-0.5648	10|5	0.72032|.	D|.	0.01|.	.|.	16.8638|16.8638	0.86024|0.86024	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	926|.	Q9NYQ6|.	CELR1_HUMAN|.	H|I	926|301	ENSP00000262738:R926H;ENSP00000379293:R926H|.	ENSP00000262738:R926H|.	R|V	-|-	2|1	0|0	CELSR1|CELSR1	45308955|45308955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.538000|0.538000	0.34931|0.34931	7.376000|7.376000	0.79658|0.79658	2.297000|2.297000	0.77311|0.77311	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		39	218	0	0	0	1	0	39	218					T	46930291	C	T	46930291	3	4	79	1	0	0	0	0	1	0	0	0	3230	536	19	1	6407	1	CELSR1	22	46930291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	70647	46930291	4374275	21129	31446											
CELSR1	9620	broad.mit.edu	37	chr22	46931735	46931735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctccacctcgatgtacaCggtggccgtggcactgagcg	13	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46931735C>T	ENST00000262738.3	-	1	1332	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	445	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGATGTACACGGTGGCCGTG	0.672																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(1333-1335)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 1							61	37	45					22																	46931735		2198	4292	6490	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46931735C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1333G>A	22.37:g.46931735C>T	ENSP00000262738:p.Val445Met					CELSR1_ENST00000395964.1_Missense_Mutation_p.V445M	p.V445M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	1332	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	445			Cadherin 2.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.1333G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261258	0.80246	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.33216	1.42;1.42	4.8	4.8	0.61643	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	U	0.000025	T	0.68439	0.3001	H	0.95712	3.71	0.46774	D	0.999194	D	0.89917	1.0	D	0.91635	0.999	T	0.80346	-0.1421	10	0.87932	D	0	.	17.4763	0.87659	0.0:1.0:0.0:0.0	.	445	Q9NYQ6	CELR1_HUMAN	M	445	ENSP00000262738:V445M;ENSP00000379293:V445M	ENSP00000262738:V445M	V	-	1	0	CELSR1	45310399	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	7.498000	0.81546	2.218000	0.71995	0.462000	0.41574	GTG		0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		69	204	0	0	0	1	0	69	204					T	46931735	C	T	46931735	3	4	79	1	0	0	0	0	1	0	0	0	3230	536	19	1	7851	1	CELSR1	22	46931735	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1444	46931735	4372831	21130	31447											
CERK	64781	broad.mit.edu	37	chr22	47116880	47116880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgtctgtttcctcaacggCgatgatctcagatacaggca	9	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47116880C>T	ENST00000216264.8	-	2	287	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	59	Required for binding to sulfatide and phosphoinositides.				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)		TCCTCAACGGCGATGATCTCA	0.443																																						ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(175-177)Gcc>Acc		ceramide kinase							198	179	185					22																	47116880		2203	4300	6503	SO:0001583	missense	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47116880C>T	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.175G>A	22.37:g.47116880C>T	ENSP00000216264:p.Ala59Thr					CERK_ENST00000541677.1_5'UTR	p.A59T	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	287	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	59			Required for binding to sulfatide and phosphoinositides.		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	c.175G>A	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049190	0.19827	.	.	ENSG00000100422	ENST00000216264	T	0.17854	2.25	4.97	-6.69	0.01772	Pleckstrin homology domain (1);	0.773503	0.12547	N	0.459389	T	0.08537	0.0212	N	0.19112	0.55	0.30647	N	0.75581	B	0.18310	0.027	B	0.11329	0.006	T	0.32508	-0.9904	10	0.19590	T	0.45	-12.3365	12.5308	0.56113	0.1105:0.7122:0.0:0.1772	.	59	Q8TCT0	CERK1_HUMAN	T	59	ENSP00000216264:A59T	ENSP00000216264:A59T	A	-	1	0	CERK	45495544	0.456000	0.25744	0.004000	0.12327	0.304000	0.27724	-0.668000	0.05268	-1.512000	0.01791	-0.259000	0.10710	GCC		0.443	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		114	554	0	0	0	1	0	114	554					T	47116880	C	T	47116880	3	4	79	1	0	0	0	0	1	0	0	0	3276	768	27	1	1486	1	CERK	22	47116880	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	185145	47116880	4187686	21131	31448											
TBC1D22A	25771	broad.mit.edu	37	chr22	47193447	47193447	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactctcagcagctcagcGctgagcgaaagagaggcctc	12	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47193447G>A	ENST00000337137.4	+	4	733	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TBC1D22A_ENST00000380995.1_Silent_p.A142A|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000406733.1_Silent_p.A142A	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	189							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)		GCAGCTCAGCGCTGAGCGAAA	0.647											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(565-567)gcG>gcA		TBC1 domain family, member 22A							37	33	34					22																	47193447		2203	4300	6503	SO:0001819	synonymous_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47193447G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.567G>A	22.37:g.47193447G>A			OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	TBC1D22A_ENST00000406733.1_Silent_p.A142A|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000380995.1_Silent_p.A142A	p.A189A	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	4	733	+		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)	189					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	37	c.567G>A	CCDS14078.1																																																																																				0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		55	227	0	0	0	1	0	55	227					A	47193447	G	A	47193447	2	1	79	1	0	0	0	0	0	0	0	1	15663	1074	38	1		1	TBC1D22A	22	47193447	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	76567	47193447	4111119	21132	31449											
TBC1D22A	25771	broad.mit.edu	37	chr22	47393552	47393552	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caactacacctttgcccaacCtgggattcaaatgaaagtga	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47393552C>A	ENST00000337137.4	+	10	1314	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H	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	383	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)		TTTGCCCAACCTGGGATTCAA	0.453																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(1147-1149)cCt>cAt		TBC1 domain family, member 22A							73	74	74					22																	47393552		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47393552C>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1148C>A	22.37:g.47393552C>A	ENSP00000336724:p.Pro383His					TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P336H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P305H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P324H	p.P383H	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	10	1314	+		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)	383			Rab-GAP TBC.		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1148C>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452041	0.84209	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.66	5.66	0.87406	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.995	T	0.58188	-0.7680	10	0.72032	D	0.01	.	18.3283	0.90260	0.0:1.0:0.0:0.0	.	383;305;324;383	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	H	383;324;305;336	ENSP00000336724:P383H;ENSP00000384036:P324H;ENSP00000347932:P305H;ENSP00000385634:P336H	ENSP00000336724:P383H	P	+	2	0	TBC1D22A	45772216	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	6.423000	0.73361	2.654000	0.90174	0.650000	0.86243	CCT		0.453	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		68	297	1	0	1.85257e-25	1	2.12574e-25	68	297					A	47393552	C	A	47393552	3	1	79	1	0	0	0	0	1	0	0	0	15663	681	24	3	1186	3	TBC1D22A	22	47393552	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	200105	47393552	3911014	21133	31450											
TBC1D22A	25771	broad.mit.edu	37	chr22	47569242	47569242	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctcaagtttgcttttgcCgacgcccccaatcactacaa	6	16	2	0	rs144230848	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47569242C>T	ENST00000337137.4	+	13	1693	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000407381.3_Silent_p.A450A|TBC1D22A_ENST00000406733.1_Silent_p.A462A	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	509							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)		TTGCTTTTGCCGACGCCCCCA	0.647																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(1525-1527)gcC>gcT		TBC1 domain family, member 22A		C		2,4404	4.2+/-10.8	0,2,2201	95	98	97		1527	-10.4	0	22	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	TBC1D22A	NM_014346.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		509/518	47569242	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47569242C>T	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.1527C>T	22.37:g.47569242C>T						TBC1D22A_ENST00000406733.1_Silent_p.A462A|TBC1D22A_ENST00000355704.3_Silent_p.A431A|TBC1D22A_ENST00000407381.3_Silent_p.A450A	p.A509A	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	13	1693	+		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)	509					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Silent	SNP	ENST00000337137.4	37	c.1527C>T	CCDS14078.1																																																																																				0.647	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		93	633	0	0	0	1	0	93	633					T	47569242	C	T	47569242	2	4	79	1	0	0	0	0	0	0	0	1	15663	639	23	1		1	TBC1D22A	22	47569242	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	175690	47569242	3735324	21134	31451											
FAM19A5	25817	broad.mit.edu	37	chr22	49042475	49042475	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccagcctcggaggaCgatcgcccggcagaccgccc	13	18	0	1	rs373045207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:49042475C>T	ENST00000402357.1	+	2	312	c.179C>T	c.(178-180)aCg>aTg	p.T60M	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000358295.5_Missense_Mutation_p.T53M	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	60						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)		CCTCGGAGGACGATCGCCCGG	0.692																																						ENST00000358295.5																			0				large_intestine(1)|lung(6)	7						c.(157-159)aCg>aTg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5		C	MET/THR,MET/THR	0,4160		0,0,2080	25	33	30		179,158	5.2	1	22		30	2,8432		0,2,4215	no	missense,missense	FAM19A5	NM_001082967.1,NM_015381.5	81,81	0,2,6295	TT,TC,CC		0.0237,0.0,0.0159	probably-damaging,probably-damaging	60/133,53/126	49042475	2,12592	2080	4217	6297	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042475C>T	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.179C>T	22.37:g.49042475C>T	ENSP00000383933:p.Thr60Met					FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.T60M	p.T53M	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	333	+		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)	60					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.158C>T	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144798	0.77888	0.0	2.37E-4	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.66636	0.2809	L	0.56769	1.78	0.80722	D	1	P;D	0.60160	0.904;0.987	B;P	0.52758	0.226;0.708	T	0.71224	-0.4656	8	0.87932	D	0	.	17.3357	0.87280	0.0:1.0:0.0:0.0	.	53;60	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	M	60;60;53	.	ENSP00000336812:T60M	T	+	2	0	FAM19A5	47428911	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.991000	0.76232	2.417000	0.82017	0.655000	0.94253	ACG		0.692	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		31	159	0	0	0	1	0	31	159					T	49042475	C	T	49042475	3	4	79	1	0	0	0	0	1	0	0	0	5556	536	19	1	280	1	FAM19A5	22	49042475	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1473233	49042475	2262091	21135	31452											
BRD1	23774	broad.mit.edu	37	chr22	50181041	50181041	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccgcggcatttacctgCgtccaggcgctttcctgggg	13	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50181041C>T	ENST00000216267.8	-	7	2947	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	821					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATTTACCTGCGTCCAGGCGC	0.657																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2461-2463)Gca>Aca		bromodomain containing 1							48	52	51					22																	50181041		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50181041C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2461G>A	22.37:g.50181041C>T	ENSP00000216267:p.Ala821Thr					BRD1_ENST00000404034.1_Missense_Mutation_p.A821T|BRD1_ENST00000542442.1_Missense_Mutation_p.A509T|BRD1_ENST00000457780.2_Silent_p.T924T|BRD1_ENST00000342989.5_Missense_Mutation_p.A547T|BRD1_ENST00000404760.1_Missense_Mutation_p.A952T	p.A821T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	7	2947	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	821					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2461G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	5.178	0.218460	0.09810	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.39	3.26	0.37387	.	0.255709	0.44285	N	0.000467	T	0.03871	0.0109	N	0.00170	-1.935	0.80722	D	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	0.25916	-1.0118	10	0.09338	T	0.73	.	9.0563	0.36408	0.0:0.1532:0.0:0.8468	.	952;547;821;952	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	821;821;952;509;547;412	ENSP00000216267:A821T;ENSP00000384076:A821T;ENSP00000385858:A952T;ENSP00000437514:A509T;ENSP00000345886:A547T	ENSP00000216267:A821T	A	-	1	0	BRD1	48567045	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	4.009000	0.57110	0.365000	0.24400	-0.302000	0.09304	GCA		0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		61	269	0	0	0	1	0	61	269					T	50181041	C	T	50181041	3	4	79	1	0	0	0	0	1	0	0	0	1505	768	27	1	739	1	BRD1	22	50181041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1138566	50181041	1123525	21136	31453											
BRD1	23774	broad.mit.edu	37	chr22	50187865	50187865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttcatagcgcaggtgaggtCgagcatgtccagcagctctc	12	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50187865C>T	ENST00000216267.8	-	6	2662	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	726					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGGTGAGGTCGAGCATGTCC	0.592																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(2176-2178)Gac>Aac		bromodomain containing 1							64	67	66					22																	50187865		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50187865C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2176G>A	22.37:g.50187865C>T	ENSP00000216267:p.Asp726Asn					BRD1_ENST00000404034.1_Missense_Mutation_p.D726N|BRD1_ENST00000542442.1_Missense_Mutation_p.D414N|BRD1_ENST00000457780.2_Missense_Mutation_p.D726N|BRD1_ENST00000342989.5_Missense_Mutation_p.D321N|BRD1_ENST00000404760.1_Missense_Mutation_p.D726N	p.D726N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	6	2662	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	726					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.2176G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792126	0.90453	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.30981	2.38;2.38;2.18;1.95;1.51;1.6	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.86178	2.8	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;0.988;0.999	T	0.65578	-0.6134	10	0.49607	T	0.09	.	19.1727	0.93585	0.0:1.0:0.0:0.0	.	726;321;726;726	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	N	726;726;726;726;414;321;186	ENSP00000216267:D726N;ENSP00000384076:D726N;ENSP00000385858:D726N;ENSP00000410042:D726N;ENSP00000437514:D414N;ENSP00000345886:D321N	ENSP00000216267:D726N	D	-	1	0	BRD1	48573869	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.591000	0.82666	2.524000	0.85096	0.655000	0.94253	GAC		0.592	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		71	353	0	0	0	1	0	71	353					T	50187865	C	T	50187865	3	4	79	1	0	0	0	0	1	0	0	0	1505	884	31	1	1028	1	BRD1	22	50187865	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6824	50187865	1116701	21137	31454											
BRD1	23774	broad.mit.edu	37	chr22	50191584	50191584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacacctccctgatcgCgcagcctcaccgcggctcta	8	18	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50191584C>T	ENST00000216267.8	-	5	2453	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404034.1_Missense_Mutation_p.R656H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	656					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCCCTGATCGCGCAGCCTCAC	0.577																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(1966-1968)cGc>cAc		bromodomain containing 1							74	66	69					22																	50191584		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50191584C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1967G>A	22.37:g.50191584C>T	ENSP00000216267:p.Arg656His					BRD1_ENST00000404034.1_Missense_Mutation_p.R656H|BRD1_ENST00000542442.1_Missense_Mutation_p.R344H|BRD1_ENST00000457780.2_Missense_Mutation_p.R656H|BRD1_ENST00000342989.5_Missense_Mutation_p.R251H|BRD1_ENST00000404760.1_Missense_Mutation_p.R656H	p.R656H	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	5	2453	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	656					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1967G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394432	0.83011	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.29	5.29	0.74685	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	P;D;P;D	0.67900	0.895;0.954;0.756;0.951	T	0.52563	-0.8559	10	0.66056	D	0.02	.	18.9391	0.92598	0.0:1.0:0.0:0.0	.	656;251;656;656	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	H	656;656;656;656;344;251;116	ENSP00000216267:R656H;ENSP00000384076:R656H;ENSP00000385858:R656H;ENSP00000410042:R656H;ENSP00000437514:R344H;ENSP00000345886:R251H	ENSP00000216267:R656H	R	-	2	0	BRD1	48577588	1.000000	0.71417	0.957000	0.39632	0.969000	0.65631	7.549000	0.82163	2.458000	0.83093	0.655000	0.94253	CGC		0.577	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		63	239	0	0	0	1	0	63	239					T	50191584	C	T	50191584	3	4	79	1	0	0	0	0	1	0	0	0	1505	768	27	1	1241	1	BRD1	22	50191584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3719	50191584	1112982	21138	31455											
ZBED4	9889	broad.mit.edu	37	chr22	50278993	50278993	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttaatagcaaaaagacctcGaagctgtggaatcatttttc	8	7	1	1	rs138599627		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50278993G>A	ENST00000216268.5	+	2	2160	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	561						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)		AAAAGACCTCGAAGCTGTGGA	0.463																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1681-1683)tcG>tcA		zinc finger, BED-type containing 4		G		1,4405	2.1+/-5.4	0,1,2202	72	79	77		1683	-8.3	0.7	22	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ZBED4	NM_014838.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		561/1172	50278993	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278993G>A	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.1683G>A	22.37:g.50278993G>A							p.S561S	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2160	+		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)	561					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.1683G>A	CCDS33677.1																																																																																				0.463	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		15	676	0	0	0	1	0	15	676					A	50278993	G	A	50278993	2	1	79	1	0	0	0	0	0	0	0	1	17573	1045	37	1		1	ZBED4	22	50278993	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	87409	50278993	1025573	21139	31456											
ZBED4	9889	broad.mit.edu	37	chr22	50280636	50280636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctactggaacctgaagaaggCgtcctggccggggctgtccg	15	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	ENST00000216268.5	+	2	3803	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1109						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)		CTGAAGAAGGCGTCCTGGCCG	0.582																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3325-3327)gCg>gTg		zinc finger, BED-type containing 4							61	53	56					22																	50280636		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50280636C>T	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.3326C>T	22.37:g.50280636C>T	ENSP00000216268:p.Ala1109Val						p.A1109V	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	3803	+		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)	1109					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.3326C>T	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	3.477	-0.106658	0.06924	.	.	ENSG00000100426	ENST00000216268	T	0.25250	1.81	5.17	4.15	0.48705	HAT dimerisation (1);Ribonuclease H-like (1);	0.666618	0.15432	N	0.262679	T	0.17874	0.0429	N	0.21142	0.635	0.09310	N	1	B	0.27882	0.192	B	0.19946	0.027	T	0.11991	-1.0565	10	0.35671	T	0.21	-4.1212	13.5439	0.61690	0.0:0.9256:0.0:0.0744	.	1109	O75132	ZBED4_HUMAN	V	1109	ENSP00000216268:A1109V	ENSP00000216268:A1109V	A	+	2	0	ZBED4	48666640	1.000000	0.71417	0.002000	0.10522	0.207000	0.24258	5.419000	0.66435	1.416000	0.47057	0.650000	0.86243	GCG		0.582	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		59	251	0	0	0	1	0	59	251					T	50280636	C	T	50280636	3	4	79	1	0	0	0	0	1	0	0	0	17573	768	27	1	3328	1	ZBED4	22	50280636	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1643	50280636	1023930	21140	31457											
ALG12	79087	broad.mit.edu	37	chr22	50303569	50303569	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggatccctgccgggacggCgtggcgaagggctctgacta	17	11	1	1	rs200241636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	ENST00000330817.6	-	5	910	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	213					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)		GCCGGGACGGCGTGGCGAAGG	0.522													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17070	0.001		0.0	False		,,,				2504	0.0					ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(637-639)Gcc>Acc		ALG12, alpha-1,6-mannosyltransferase							71	71	71					22																	50303569		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50303569C>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.637G>A	22.37:g.50303569C>T	ENSP00000333813:p.Ala213Thr						p.A213T	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	5	910	-		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)	213					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.637G>A	CCDS14081.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.8	4.575536	0.86645	.	.	ENSG00000182858	ENST00000330817	T	0.62788	0.0	4.43	4.43	0.53597	.	0.048778	0.85682	D	0.000000	T	0.78400	0.4277	M	0.82056	2.57	0.80722	D	1	D	0.67145	0.996	P	0.62184	0.899	T	0.80986	-0.1137	10	0.49607	T	0.09	-10.9563	18.0056	0.89208	0.0:1.0:0.0:0.0	.	213	Q9BV10	ALG12_HUMAN	T	213	ENSP00000333813:A213T	ENSP00000333813:A213T	A	-	1	0	ALG12	48689573	1.000000	0.71417	0.073000	0.20177	0.004000	0.04260	4.036000	0.57304	2.425000	0.82216	0.644000	0.83932	GCC		0.522	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		38	266	0	0	0	1	0	38	266					T	50303569	C	T	50303569	3	4	79	1	0	0	0	0	1	0	0	0	514	768	27	1	853	1	ALG12	22	50303569	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22933	50303569	1000997	21141	31458											
ALG12	79087	broad.mit.edu	37	chr22	50307102	50307102	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaccgcggggctggagaacaCtgcgatcaccactggcccga	13	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	ENST00000330817.6	-	3	499	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	76					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)		CTGGAGAACACTGCGATCACC	0.572																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(226-228)Gtg>Ttg		ALG12, alpha-1,6-mannosyltransferase							89	81	84					22																	50307102		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307102C>A	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.226G>T	22.37:g.50307102C>A	ENSP00000333813:p.Val76Leu						p.V76L	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	3	499	-		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)	76					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.226G>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	0.351	-0.944639	0.02304	.	.	ENSG00000182858	ENST00000330817	D	0.81996	-1.56	5.34	4.32	0.51571	.	0.435749	0.25341	N	0.031376	T	0.65080	0.2657	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46428	-0.9192	10	0.10377	T	0.69	-10.6288	9.9025	0.41355	0.138:0.7893:0.0:0.0727	.	76	Q9BV10	ALG12_HUMAN	L	76	ENSP00000333813:V76L	ENSP00000333813:V76L	V	-	1	0	ALG12	48693106	0.002000	0.14202	0.002000	0.10522	0.000000	0.00434	1.792000	0.38754	1.259000	0.44117	-0.216000	0.12614	GTG		0.572	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		36	354	1	0	5.8336e-16	1	6.39204e-16	36	354					A	50307102	C	A	50307102	3	1	79	1	0	0	0	0	1	0	0	0	514	565	20	3	1272	3	ALG12	22	50307102	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3533	50307102	997464	21142	31459											
PIM3	415116	broad.mit.edu	37	chr22	50356512	50356512	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttccggaggagggtctctccAggtgcgtggtggctcgaggc	18	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50356512A>G	ENST00000360612.4	+	5	1227	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	Pim-3 proto-oncogene, serine/threonine kinase	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|histone phosphorylation (GO:0016572)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCTCTCCAGGTGCGTGGT	0.677																																						ENST00000360612.4																			0											c.e5+1		pim-3 oncogene							37	39	38					22																	50356512		2203	4300	6503	SO:0001630	splice_region_variant	415116				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:50356512A>G	BC052239	CCDS33678.1	22q13	2014-06-25	2014-06-25		ENSG00000198355	ENSG00000198355			19310	protein-coding gene	gene with protein product		610580	"pim-3 oncogene"			12477932	Standard	NM_001001852		Approved		uc003bjb.3	Q86V86	OTTHUMG00000150290	ENST00000360612.4:c.793+1A>G	22.37:g.50356512A>G							p.P264_splice	NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)	5	1227	+		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)	264			Protein kinase.		A5D8X8|A8K7J0|B1B0P0|Q68BM2	Splice_Site	SNP	ENST00000360612.4	37	c.793_splice	CCDS33678.1																																																																																				0.677	PIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317406.1	NM_001001852	Silent	13	299	0	0	0	1	0	13	299					G	50356512	A	G	50356512	5	3	79	1	0	0	0	0	0	0	1	0	11971	202	7	4	810	4	PIM3	22	50356512	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	49410	50356512	948054	21143	31460											
IL17REL	400935	broad.mit.edu	37	chr22	50439203	50439203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgccccccctgctgccGgtgggaggccctggccaccc	13	20	0	0	rs143091006	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50439203G>A	ENST00000389983.2	-	5	463	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	67										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		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;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCCTGCTGCCGGTGGGAGGCC	0.706													G|||	12	0.00239617	0.0091	0.0	5008	,	,		17096	0.0		0.0	False		,,,				2504	0.0					ENST00000389983.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(199-201)Cgg>Tgg		interleukin 17 receptor E-like			TRP/ARG	23,4373		0,23,2175	15	18	17		199	1.1	0.1	22	dbSNP_134	17	0,8582		0,0,4291	yes	missense	IL17REL	NM_001001694.2	101	0,23,6466	AA,AG,GG		0.0,0.5232,0.1772	probably-damaging	67/337	50439203	23,12955	2198	4291	6489	SO:0001583	missense	400935							g.chr22:50439203G>A	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.199C>T	22.37:g.50439203G>A	ENSP00000374633:p.Arg67Trp					IL17REL_ENST00000341280.5_Missense_Mutation_p.R67W	p.R67W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	5	463	-		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)	67					A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	37	c.199C>T	CCDS33679.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	16.01	3.000076	0.54147	0.005232	0.0	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.16073	2.37;2.37	3.36	1.11	0.20524	.	0.440966	0.17529	U	0.170950	T	0.15522	0.0374	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.53861	0.736	T	0.06338	-1.0832	10	0.59425	D	0.04	.	3.456	0.07515	0.141:0.0:0.6043:0.2547	.	67	Q6ZVW7	I17EL_HUMAN	W	67	ENSP00000374633:R67W;ENSP00000342520:R67W	ENSP00000342520:R67W	R	-	1	2	IL17REL	48781330	0.054000	0.20591	0.119000	0.21687	0.081000	0.17604	1.066000	0.30604	0.495000	0.27882	0.651000	0.88453	CGG		0.706	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694		8	126	0	0	0	1	0	8	126					A	50439203	G	A	50439203	3	1	79	1	0	0	0	0	1	0	0	0	7674	1115	39	1	851	1	IL17REL	22	50439203	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82691	50439203	865363	21144	31461											
TTLL8	164714	broad.mit.edu	37	chr22	50454928	50454928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcccacgtggtgcccGtggtctggcaggcggccacg	14	16	1	0	rs373725189|rs540321694	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50454928G>A	ENST00000266182.6	-	13	2266	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	TTLL8_ENST00000440475.1_Missense_Mutation_p.T736M			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	772					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGTGGTGCCCGTGGTCTGGCA	0.672													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17989	0.0		0.0	False		,,,				2504	0.0					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(2266-2268)aCg>aTg		tubulin tyrosine ligase-like family, member 8		G		9,4269		0,9,2130	12	16	15			-1.5	0	22		15	0,8496		0,0,4248	no	intergenic				0,9,6378	AA,AG,GG		0.0,0.2104,0.0705			50454928	9,12765	2139	4248	6387	SO:0001583	missense	164714							g.chr22:50454928G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.2267C>T	22.37:g.50454928G>A	ENSP00000266182:p.Thr756Met					TTLL8_ENST00000440475.1_Missense_Mutation_p.T736M	p.T756M						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	13	2266	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.2267C>T		.	.	.	.	.	.	.	.	.	.	g	4.704	0.130829	0.08981	0.002104	0.0	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.04502	3.61;3.72;3.72	0.762	-1.52	0.08637	.	.	.	.	.	T	0.02156	0.0067	.	.	.	0.09310	N	1	D	0.56287	0.975	B	0.26693	0.072	T	0.42032	-0.9475	8	0.62326	D	0.03	.	2.3857	0.04365	0.0:0.288:0.3425:0.3695	.	756	B5MDV0	.	M	756;736;772	ENSP00000266182:T756M;ENSP00000387509:T736M;ENSP00000392252:T772M	ENSP00000266182:T756M	T	-	2	0	TTLL8	48797055	0.000000	0.05858	0.002000	0.10522	0.109000	0.19521	-0.906000	0.04071	-0.888000	0.03956	0.298000	0.19748	ACG		0.672	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		7	27	0	0	0	1	0	7	27					A	50454928	G	A	50454928	3	1	79	1	0	0	0	0	1	0	0	0	16787	1145	40	1	244	1	TTLL8	22	50454928	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15725	50454928	849638	21145	31462											
TTLL8	164714	broad.mit.edu	37	chr22	50471771	50471771	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcacagatgagcagcggCgtctcgatgtacttctggac	13	10	3	2	rs184737868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50471771C>T	ENST00000266182.6	-	10	1142	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	TTLL8_ENST00000440475.1_Silent_p.T361T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	397	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TGAGCAGCGGCGTCTCGATGT	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		21629	0.002		0.0	False		,,,				2504	0.001					ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(1141-1143)acG>acA		tubulin tyrosine ligase-like family, member 8		C		0,4314		0,0,2157	51	59	56		1173	-4.8	0.6	22		56	1,8525		0,1,4262	no	coding-synonymous	TTLL8	XM_003403494.1		0,1,6419	TT,TC,CC		0.0117,0.0,0.0078		391/841	50471771	1,12839	2157	4263	6420	SO:0001819	synonymous_variant	164714							g.chr22:50471771C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1143G>A	22.37:g.50471771C>T						TTLL8_ENST00000440475.1_Silent_p.T361T	p.T381T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	10	1142	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.1143G>A																																																																																					0.557	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		14	52	0	0	0	1	0	14	52					T	50471771	C	T	50471771	2	4	79	1	0	0	0	0	0	0	0	1	16787	755	27	1		1	TTLL8	22	50471771	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16843	50471771	832795	21146	31463											
TTLL8	164714	broad.mit.edu	37	chr22	50479664	50479664	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aatgacatcataaccttctgGattttgaagatgcacaagac	7	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50479664G>T	ENST00000266182.6	-	8	872	c.873C>A	c.(871-873)atC>atA	p.I291I	TTLL8_ENST00000440475.1_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	318	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TAACCTTCTGGATTTTGAAGA	0.552																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(871-873)atC>atA		tubulin tyrosine ligase-like family, member 8							149	160	156					22																	50479664		1955	4149	6104	SO:0001819	synonymous_variant	164714							g.chr22:50479664G>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.873C>A	22.37:g.50479664G>T						TTLL8_ENST00000440475.1_Intron	p.I291I						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	8	872	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.873C>A																																																																																					0.552	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		120	532	1	0	9.79165e-58	1	1.22661e-57	120	532					T	50479664	G	T	50479664	2	4	79	1	0	0	0	0	0	0	0	1	16787	1164	41	3		3	TTLL8	22	50479664	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7893	50479664	824902	21147	31464											
TTLL8	164714	broad.mit.edu	37	chr22	50480200	50480200	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatgtccacaagctgccccGggaggcccctgagctttgcc	12	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50480200G>A	ENST00000266182.6	-	7	679	c.680C>T	c.(679-681)cCg>cTg	p.P227L	TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	263	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AAGCTGCCCCGGGAGGCCCCT	0.632																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(679-681)cCg>cTg		tubulin tyrosine ligase-like family, member 8							37	39	38					22																	50480200		2093	4217	6310	SO:0001583	missense	164714							g.chr22:50480200G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.680C>T	22.37:g.50480200G>A	ENSP00000266182:p.Pro227Leu					TTLL8_ENST00000440475.1_Missense_Mutation_p.P227L	p.P227L						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	7	679	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.680C>T		.	.	.	.	.	.	.	.	.	.	G	14.72	2.618531	0.46736	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.54479	3.53;0.57;0.57	4.66	4.66	0.58398	.	0.667620	0.12772	N	0.440413	T	0.60418	0.2267	L	0.61036	1.89	0.09310	N	0.999999	D	0.71674	0.998	P	0.49597	0.616	T	0.55405	-0.8146	10	0.37606	T	0.19	.	16.4517	0.83993	0.0:0.0:1.0:0.0	.	227	B5MDV0	.	L	227;227;263	ENSP00000266182:P227L;ENSP00000387509:P227L;ENSP00000392252:P263L	ENSP00000266182:P227L	P	-	2	0	TTLL8	48822327	0.859000	0.29813	0.005000	0.12908	0.006000	0.05464	1.942000	0.40243	2.406000	0.81754	0.484000	0.47621	CCG		0.632	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		14	59	0	0	0	1	0	14	59					A	50480200	G	A	50480200	3	1	79	1	0	0	0	0	1	0	0	0	16787	1116	39	1	1855	1	TTLL8	22	50480200	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536	50480200	824366	21148	31465											
TTLL8	164714	broad.mit.edu	37	chr22	50493029	50493029	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcattctctgagtacctggaAgtctgtttcccatccaggag	10	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50493029A>C	ENST00000266182.6	-	1	26	c.27T>G	c.(25-27)acT>acG	p.T9T	TTLL8_ENST00000440475.1_Silent_p.T9T			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	0					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		agtacctggaagtctgtttcc	0.587																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(25-27)acT>acG		tubulin tyrosine ligase-like family, member 8							49	53	52					22																	50493029		1927	4127	6054	SO:0001819	synonymous_variant	164714							g.chr22:50493029A>C			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.27T>G	22.37:g.50493029A>C						TTLL8_ENST00000440475.1_Silent_p.T9T	p.T9T						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	1	26	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.27T>G																																																																																					0.587	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		7	37	0	0	0	1	0	7	37					C	50493029	A	C	50493029	2	2	79	1	0	0	0	0	0	0	0	1	16787	59	3	4		4	TTLL8	22	50493029	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12829	50493029	811537	21149	31466											
MLC1	23209	broad.mit.edu	37	chr22	50502477	50502477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacctccccagccaggcGctcctgcgggccgttctggg	12	18	2	0	rs551842465		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50502477G>A	ENST00000311597.5	-	11	1651	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	MLC1_ENST00000538737.1_Missense_Mutation_p.R315C|MLC1_ENST00000450140.2_Missense_Mutation_p.R297C|MLC1_ENST00000395876.2_Missense_Mutation_p.R349C|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000535444.1_Missense_Mutation_p.R270C|MLC1_ENST00000431262.2_Missense_Mutation_p.R319C	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	349					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCAGCCAGGCGCTCCTGCGGG	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		10784	0.0		0.0	False		,,,				2504	0.001					ENST00000311597.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18						c.(1045-1047)Cgc>Tgc		megalencephalic leukoencephalopathy with subcortical cysts 1							28	27	27					22																	50502477		2199	4299	6498	SO:0001583	missense	23209					basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	g.chr22:50502477G>A	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.1045C>T	22.37:g.50502477G>A	ENSP00000310375:p.Arg349Cys					MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000535444.1_Missense_Mutation_p.R270C|MLC1_ENST00000450140.2_Missense_Mutation_p.R297C|MLC1_ENST00000538737.1_Missense_Mutation_p.R315C|MLC1_ENST00000431262.2_Missense_Mutation_p.R319C|MLC1_ENST00000395876.2_Missense_Mutation_p.R349C	p.R349C	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)	11	1651	-		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)	349					B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	ENST00000311597.5	37	c.1045C>T	CCDS14083.1	.	.	.	.	.	.	.	.	.	.	g	9.300	1.052744	0.19907	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000538737;ENST00000431262;ENST00000535444;ENST00000450140	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	3.83	1.72	0.24424	.	0.710008	0.14560	N	0.312126	D	0.87006	0.6070	L	0.51422	1.61	0.09310	N	0.999999	B;B;B;B	0.15473	0.005;0.013;0.01;0.013	B;B;B;B	0.08055	0.002;0.003;0.003;0.003	T	0.78497	-0.2181	10	0.56958	D	0.05	-10.447	5.3505	0.16034	0.259:0.0:0.741:0.0	.	315;319;297;349	F5H1B9;B7Z659;B7Z1X1;Q15049	.;.;.;MLC1_HUMAN	C	349;349;315;319;270;297	ENSP00000379216:R349C;ENSP00000310375:R349C;ENSP00000445805:R315C;ENSP00000415877:R319C;ENSP00000438910:R270C;ENSP00000412448:R297C	ENSP00000310375:R349C	R	-	1	0	MLC1	48844604	0.392000	0.25229	0.028000	0.17463	0.031000	0.12232	1.399000	0.34566	0.897000	0.36392	0.550000	0.68814	CGC		0.706	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316979.2	NM_015166		29	145	0	0	0	1	0	29	145					A	50502477	G	A	50502477	3	1	79	1	0	0	0	0	1	0	0	0	9653	1087	38	1	96	1	MLC1	22	50502477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9448	50502477	802089	21150	31467											
MOV10L1	54456	broad.mit.edu	37	chr22	50552182	50552182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acgcattttggaaccctaaaGgaaggaagaagtaaaaccat	9	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50552182G>T	ENST00000262794.5	+	6	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	283					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)		GAACCCTAAAGGAAGGAAGAA	0.398																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(847-849)aaG>aaT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							118	109	112					22																	50552182		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50552182G>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"cardiac helicase activated by MEF2C protein"	605794	"Mov10 (mouse)-like 1", "Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.849G>T	22.37:g.50552182G>T	ENSP00000262794:p.Lys283Asn					MOV10L1_ENST00000545383.1_Missense_Mutation_p.K283N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K263N|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K283N	p.K283N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	6	932	+		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)	283					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.849G>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886462	0.51908	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86497	-1.94;-1.94;-1.53;-2.13	6.17	-3.19	0.05171	.	0.235942	0.50627	N	0.000118	D	0.83216	0.5206	M	0.64997	1.995	0.45791	D	0.99867	D;P;P;P	0.55800	0.973;0.682;0.907;0.948	P;B;B;B	0.51742	0.678;0.376;0.303;0.303	T	0.76361	-0.2987	10	0.26408	T	0.33	-14.8035	2.8453	0.05541	0.5148:0.1095:0.2674:0.1084	.	44;263;283;283	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	N	283;283;283;263	ENSP00000438978:K283N;ENSP00000262794:K283N;ENSP00000379199:K283N;ENSP00000438542:K263N	ENSP00000262794:K283N	K	+	3	2	MOV10L1	48894309	0.184000	0.23200	0.023000	0.16930	0.530000	0.34684	0.109000	0.15417	-0.827000	0.04278	0.655000	0.94253	AAG		0.398	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		74	292	1	0	4.59617e-45	1	5.6316e-45	74	292					T	50552182	G	T	50552182	3	4	79	1	0	0	0	0	1	0	0	0	9760	991	35	3	912	3	MOV10L1	22	50552182	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	49705	50552182	752384	21151	31468											
MOV10L1	54456	broad.mit.edu	37	chr22	50564678	50564678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtacaatggacatgccatcGaatacatcagctacgtgact	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50564678G>A	ENST00000262794.5	+	12	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	599					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)	p.E599K(1)		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)		ACATGCCATCGAATACATCAG	0.383																																						ENST00000262794.5																			1	Substitution - Missense(1)	p.E599K(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1795-1797)Gaa>Aaa		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)							123	102	109					22																	50564678		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50564678G>A	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.1795G>A	22.37:g.50564678G>A	ENSP00000262794:p.Glu599Lys					MOV10L1_ENST00000545383.1_Missense_Mutation_p.E599K|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E579K|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E599K	p.E599K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	12	1878	+		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)	599					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.1795G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690276	0.68271	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85629	-1.82;-1.82;-1.41;-2.01	5.46	5.46	0.80206	.	0.098399	0.64402	D	0.000002	D	0.87083	0.6089	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.71674	0.998;0.994;0.98;0.98	P;P;B;B	0.56788	0.806;0.64;0.436;0.436	D	0.83584	0.0119	10	0.17369	T	0.5	-39.1041	12.5473	0.56208	0.0:0.1675:0.8325:0.0	.	360;579;599;599	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	K	599;599;599;579	ENSP00000438978:E599K;ENSP00000262794:E599K;ENSP00000379199:E599K;ENSP00000438542:E579K	ENSP00000262794:E599K	E	+	1	0	MOV10L1	48906805	1.000000	0.71417	0.890000	0.34922	0.929000	0.56500	4.187000	0.58344	2.542000	0.85734	0.655000	0.94253	GAA		0.383	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		47	225	0	0	0	1	0	47	225					A	50564678	G	A	50564678	3	1	79	1	0	0	0	0	1	0	0	0	9760	1059	37	1	1882	1	MOV10L1	22	50564678	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12496	50564678	739888	21152	31469											
PANX2	56666	broad.mit.edu	37	chr22	50615556	50615556	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccatcatgtacgtgcccGcgctgggctgggagttcctg	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50615556G>A	ENST00000395842.2	+	2	415	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	139					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTACGTGCCCGCGCTGGGCTG	0.687																																						ENST00000395842.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(415-417)Gcg>Acg		pannexin 2							36	28	31					22																	50615556		2195	4298	6493	SO:0001583	missense	56666				protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr22:50615556G>A		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"Ion channels / Pannexins"	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.415G>A	22.37:g.50615556G>A	ENSP00000379183:p.Ala139Thr					PANX2_ENST00000159647.5_Missense_Mutation_p.A139T	p.A139T	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	2	415	+		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)	139					B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	c.415G>A	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465657	0.84425	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.29655	1.56;1.56	4.54	3.5	0.40072	.	0.064589	0.64402	D	0.000008	T	0.22859	0.0552	L	0.36672	1.1	0.58432	D	0.999997	P;P	0.42757	0.597;0.789	B;B	0.37015	0.089;0.239	T	0.08086	-1.0739	10	0.54805	T	0.06	-13.0858	12.2486	0.54585	0.0843:0.0:0.9157:0.0	.	139;139	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	T	139	ENSP00000159647:A139T;ENSP00000379183:A139T	ENSP00000159647:A139T	A	+	1	0	PANX2	48957683	1.000000	0.71417	0.880000	0.34516	0.988000	0.76386	7.571000	0.82399	2.251000	0.74343	0.555000	0.69702	GCG		0.687	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839		12	97	0	0	0	1	0	12	97					A	50615556	G	A	50615556	3	1	79	1	0	0	0	0	1	0	0	0	11463	1087	38	1	421	1	PANX2	22	50615556	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50878	50615556	689010	21153	31470											
TRABD	80305	broad.mit.edu	37	chr22	50635949	50635949	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcaccttcaagagggccatCgcagcgctctccttctggca	10	15	4	1	rs139568052		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50635949C>T	ENST00000303434.4	+	7	722	c.603C>T	c.(601-603)atC>atT	p.I201I	TRABD_ENST00000380909.4_Silent_p.I201I|TRABD_ENST00000395829.1_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I|RP3-402G11.26_ENST00000608025.1_RNA	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	201										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGGGCCATCGCAGCGCTCT	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16451	0.0		0.0	False		,,,				2504	0.0					ENST00000303434.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(601-603)atC>atT		TraB domain containing							76	74	75					22																	50635949		2203	4300	6503	SO:0001819	synonymous_variant	80305							g.chr22:50635949C>T	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.603C>T	22.37:g.50635949C>T						TRABD_ENST00000395829.1_Silent_p.I201I|TRABD_ENST00000395827.1_Silent_p.I201I|TRABD_ENST00000380909.4_Silent_p.I201I	p.I201I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN		LUAD - Lung adenocarcinoma(64;0.105)	7	722	+		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)	201					Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Silent	SNP	ENST00000303434.4	37	c.603C>T	CCDS14086.1																																																																																				0.657	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204		91	345	0	0	0	1	0	91	345					T	50635949	C	T	50635949	2	4	79	1	0	0	0	0	0	0	0	1	16488	874	31	1		1	TRABD	22	50635949	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	20393	50635949	668617	21154	31471											
SELO	83642	broad.mit.edu	37	chr22	50648614	50648614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgtcccaccccaggtgaCgcggcgcacggcgcggatgg	15	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50648614C>T	ENST00000380903.2	+	4	1002	c.944C>T	c.(943-945)aCg>aTg	p.T315M	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN		315													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCCCAGGTGACGCGGCGCACG	0.662											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380903.2																			0											c.(943-945)aCg>aTg									32	40	37					22																	50648614		2138	4225	6363	SO:0001583	missense	0							g.chr22:50648614C>T																												ENST00000380903.2:c.944C>T	22.37:g.50648614C>T	ENSP00000370288:p.Thr315Met		OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	971	RP3-402G11.5_ENST00000492092.1_3'UTR	p.T315M	NM_031454.1	NP_113642.1					4	1002	+								Q2TAL2|Q5JZ81|Q8WUI0	Missense_Mutation	SNP	ENST00000380903.2	37	c.944C>T	CCDS43034.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260669	0.59431	.	.	ENSG00000073169	ENST00000380903	T	0.41758	0.99	5.19	3.05	0.35203	.	0.211356	0.49305	D	0.000146	T	0.37839	0.1018	L	0.33245	0.995	0.48185	D	0.999602	P;P	0.52577	0.95;0.954	P;B	0.49361	0.608;0.36	T	0.07214	-1.0784	10	0.37606	T	0.19	.	10.5425	0.45041	0.0:0.7939:0.1337:0.0724	.	315;158	Q9BVL4;Q6ICA4	SELO_HUMAN;.	M	315	ENSP00000370288:T315M	ENSP00000370288:T315M	T	+	2	0	RP3-402G11.5	48990741	0.946000	0.32159	0.618000	0.29105	0.700000	0.40528	1.945000	0.40273	0.721000	0.32231	0.561000	0.74099	ACG		0.662	SELO-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000075003.2			58	197	0	0	0	1	0	58	197					T	50648614	C	T	50648614	3	4	79	1	0	0	0	0	1	0	0	0	14068	536	19	1	958	1	SELO	22	50648614	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12665	50648614	655952	21155	31472											
SELO	85378	broad.mit.edu	37	chr22	50655270	50655270	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagctgcagagcaggaaCcagggccactgggctgactg	16	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50655270C>T	ENST00000248846.5	-	0	5612				TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000492092.1_3'UTR|SELO_ENST00000380903.2_Silent_p.N551N			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGAGCAGGAACCAGGGCCACT	0.682																																						ENST00000380903.2																			0											c.(1651-1653)aaC>aaT									23	32	29					22																	50655270		2185	4272	6457	SO:0001628	intergenic_variant	0							g.chr22:50655270C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655270C>T						RP3-402G11.5_ENST00000492092.1_3'UTR	p.N551N	NM_031454.1	NP_113642.1					7	1711	+								Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.1653C>T	CCDS14087.1																																																																																				0.682	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		28	168	0	0	0	1	0	28	168					T	50655270	C	T	50655270	1	4	79	0	1	0	0	0	0	0	0	0	14068	506	18	2		2	SELO	22	50655270	IGR	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6656	50655270	649296	21156	31473											
TUBGCP6	85378	broad.mit.edu	37	chr22	50664719	50664719	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcagctgccacctacctcGgaagctgaggtactcgtggt	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50664719G>A	ENST00000248846.5	-	8	1794	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	TUBGCP6_ENST00000491449.1_5'Flank|TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R564*			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	564					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACCTACCTCGGAAGCTGAGG	0.617																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(1690-1692)Cga>Tga		tubulin, gamma complex associated protein 6							77	68	71					22																	50664719		2203	4300	6503	SO:0001587	stop_gained	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664719G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1690C>T	22.37:g.50664719G>A	ENSP00000248846:p.Arg564*					TUBGCP6_ENST00000248846.5_Nonsense_Mutation_p.R564*	p.R564*	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	8	2182	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	564					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Nonsense_Mutation	SNP	ENST00000248846.5	37	c.1690C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	40	8.463773	0.98822	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	5.32	1.49	0.22878	.	0.157011	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9083	0.63850	0.0:0.0:0.3878:0.6122	.	.	.	.	X	564	.	ENSP00000248846:R564X	R	-	1	2	TUBGCP6	49006846	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	2.718000	0.47236	0.313000	0.23062	-0.397000	0.06425	CGA		0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		11	291	0	0	0	1	0	11	291					A	50664719	G	A	50664719	4	1	79	1	0	0	0	0	0	1	0	0	16824	1124	39	1	3841	1	TUBGCP6	22	50664719	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9449	50664719	639847	21157	31474											
TUBGCP6	85378	broad.mit.edu	37	chr22	50671771	50671771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgaaaacgtggcagacaCgaccccaatcaagacgttca	10	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50671771C>T	ENST00000248846.5	-	3	1194	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V364M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	364					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCAGACACGACCCCAATC	0.642																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(1090-1092)Gtg>Atg		tubulin, gamma complex associated protein 6							110	58	76					22																	50671771		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50671771C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1090G>A	22.37:g.50671771C>T	ENSP00000248846:p.Val364Met					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V364M	p.V364M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	3	1582	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	364					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1090G>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379591	0.61845	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07908	3.15;3.15	5.69	3.55	0.40652	.	0.603759	0.17925	N	0.157367	T	0.08670	0.0215	L	0.53249	1.67	0.09310	N	1	P;P	0.49862	0.929;0.929	B;B	0.37198	0.243;0.243	T	0.17167	-1.0378	10	0.48119	T	0.1	.	11.0148	0.47682	0.0:0.7994:0.1299:0.0707	.	364;364	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	364	ENSP00000248846:V364M;ENSP00000397387:V364M	ENSP00000248846:V364M	V	-	1	0	TUBGCP6	49013898	0.836000	0.29430	0.004000	0.12327	0.773000	0.43773	4.750000	0.62162	0.715000	0.32103	0.561000	0.74099	GTG		0.642	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		23	131	0	0	0	1	0	23	131					T	50671771	C	T	50671771	3	4	79	1	0	0	0	0	1	0	0	0	16824	536	19	1	4461	1	TUBGCP6	22	50671771	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	7052	50671771	632795	21158	31475											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682221	50682221	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcggacgtccatgtcataaGtgcggctgtgcacaagggcc	14	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50682221G>A	ENST00000248846.5	-	1	772	c.668C>T	c.(667-669)aCt>aTt	p.T223I	MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T223I			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	223					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATGTCATAAGTGCGGCTGTG	0.577																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(667-669)aCt>aTt		tubulin, gamma complex associated protein 6							43	46	45					22																	50682221		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682221G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.668C>T	22.37:g.50682221G>A	ENSP00000248846:p.Thr223Ile					TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T223I	p.T223I	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1160	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	223					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.668C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564894	0.86439	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.19806	2.46;2.12	4.17	4.17	0.49024	.	0.066129	0.64402	D	0.000014	T	0.44561	0.1299	M	0.69823	2.125	0.54753	D	0.99998	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.66497	0.919;0.918;0.944	T	0.50048	-0.8873	10	0.72032	D	0.01	.	16.2595	0.82533	0.0:0.0:1.0:0.0	.	223;223;223	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	I	223	ENSP00000248846:T223I;ENSP00000397387:T223I	ENSP00000248846:T223I	T	-	2	0	TUBGCP6	49024348	1.000000	0.71417	0.848000	0.33437	0.725000	0.41563	9.236000	0.95360	2.150000	0.67090	0.555000	0.69702	ACT		0.577	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		39	223	0	0	0	1	0	39	223					A	50682221	G	A	50682221	3	1	79	1	0	0	0	0	1	0	0	0	16824	1029	36	2	4891	2	TUBGCP6	22	50682221	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10450	50682221	622345	21159	31476											
MAPK12	6300	broad.mit.edu	37	chr22	50695062	50695062	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgttcacagccaggttgCcgggcttcaggtcctggggg	15	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50695062C>T	ENST00000215659.8	-	6	785	c.470G>A	c.(469-471)gGc>gAc	p.G157D	MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle arrest (GO:0007050)|DNA damage induced protein phosphorylation (GO:0006975)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of peptidase activity (GO:0010952)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		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)		AGCCAGGTTGCCGGGCTTCAG	0.652																																						ENST00000215659.8																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8						c.(469-471)gGc>gAc		mitogen-activated protein kinase 12							76	81	80					22																	50695062		2203	4300	6503	SO:0001583	missense	6300				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding	g.chr22:50695062C>T	U66243	CCDS14089.1	22q13.3	2012-05-08			ENSG00000188130	ENSG00000188130	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6874	protein-coding gene	gene with protein product		602399		SAPK3		9169156	Standard	NM_002969		Approved	ERK6, PRKM12, p38gamma, SAPK-3	uc003bkm.1	P53778	OTTHUMG00000030145	ENST00000215659.8:c.470G>A	22.37:g.50695062C>T	ENSP00000215659:p.Gly157Asp					MAPK12_ENST00000497036.1_5'UTR|MAPK12_ENST00000395780.1_Missense_Mutation_p.G67D	p.G157D	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	785	-		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)	157			Protein kinase.		Q14260|Q6IC53|Q99588|Q99672	Missense_Mutation	SNP	ENST00000215659.8	37	c.470G>A	CCDS14089.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370771	0.82573	.	.	ENSG00000188130	ENST00000438835;ENST00000395780;ENST00000215659	T;T	0.12879	2.64;2.64	4.3	4.3	0.51218	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);	0.232365	0.21899	U	0.067461	T	0.20618	0.0496	N	0.13272	0.32	0.80722	D	1	D;D;D	0.60575	0.971;0.988;0.964	P;P;P	0.62885	0.908;0.889;0.851	T	0.17410	-1.0370	10	0.87932	D	0	-29.3733	16.9691	0.86294	0.0:1.0:0.0:0.0	.	67;157;147	B5MDL5;P53778;F6TXG5	.;MK12_HUMAN;.	D	147;67;157	ENSP00000379126:G67D;ENSP00000215659:G157D	ENSP00000215659:G157D	G	-	2	0	MAPK12	49037189	0.593000	0.26840	0.986000	0.45419	0.787000	0.44495	4.173000	0.58249	2.241000	0.73720	0.549000	0.68633	GGC		0.652	MAPK12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074999.2	NM_002969		103	468	0	0	0	1	0	103	468					T	50695062	C	T	50695062	3	4	79	1	0	0	0	0	1	0	0	0	9315	739	26	2	661	2	MAPK12	22	50695062	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12841	50695062	609504	21160	31477											
MAPK11	5600	broad.mit.edu	37	chr22	50705581	50705581	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctcacagtcctcgttcacaGccacgttgctgggcttcagg	11	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50705581G>T	ENST00000330651.6	-	6	570	c.470C>A	c.(469-471)gCt>gAt	p.A157D	MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CTCGTTCACAGCCACGTTGCT	0.706																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(469-471)gCt>gAt		mitogen-activated protein kinase 11							35	34	35					22																	50705581		2200	4296	6496	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705581G>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.470C>A	22.37:g.50705581G>T	ENSP00000333685:p.Ala157Asp					MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.A49D	p.A157D	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	570	-		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)	157			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.470C>A	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	g	32	5.128724	0.94473	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.65364	-0.15;-0.15	4.84	3.8	0.43715	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	U	0.000000	T	0.65015	0.2651	N	0.17082	0.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.988;0.999	T	0.70015	-0.4988	10	0.72032	D	0.01	-12.0188	13.5162	0.61541	0.0:0.0:0.8421:0.1579	.	49;157	B7Z630;Q15759	.;MK11_HUMAN	D	157;49	ENSP00000333685:A157D;ENSP00000406921:A49D	ENSP00000333685:A157D	A	-	2	0	MAPK11	49047708	1.000000	0.71417	0.829000	0.32907	0.990000	0.78478	7.347000	0.79356	1.160000	0.42584	0.537000	0.68136	GCT		0.706	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			23	106	1	0	4.26978e-12	1	4.57227e-12	23	106					T	50705581	G	T	50705581	3	4	79	1	0	0	0	0	1	0	0	0	9314	971	34	3	652	3	MAPK11	22	50705581	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	10519	50705581	598985	21161	31478											
PLXNB2	23654	broad.mit.edu	37	chr22	50719911	50719911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcggcccagcacccactcGcgagagccgaacttcacctg	10	18	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50719911G>A	ENST00000449103.1	-	22	3680	c.3540C>T	c.(3538-3540)cgC>cgT	p.R1180R	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Silent_p.R1180R			O15031	PLXB2_HUMAN	plexin B2	1180					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)		GCACCCACTCGCGAGAGCCGA	0.687																																						ENST00000449103.1																			0				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						c.(3538-3540)cgC>cgT		plexin B2							20	27	25					22																	50719911		2164	4250	6414	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719911G>A		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.3540C>T	22.37:g.50719911G>A						PLXNB2_ENST00000359337.4_Silent_p.R1180R	p.R1180R			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	22	3680	-		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)	1180					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.3540C>T	CCDS43035.1																																																																																				0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		51	203	0	0	0	1	0	51	203					A	50719911	G	A	50719911	2	1	79	1	0	0	0	0	0	0	0	1	12166	1074	38	1		1	PLXNB2	22	50719911	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14330	50719911	584655	21162	31479											
PLXNB2	23654	broad.mit.edu	37	chr22	50728054	50728054	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggttggcctccatcttggcGtgcaccttgtccagcgggaa	13	13	1	0	rs369685421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728054G>A	ENST00000449103.1	-	3	1100	c.960C>T	c.(958-960)caC>caT	p.H320H	PLXNB2_ENST00000359337.4_Silent_p.H320H			O15031	PLXB2_HUMAN	plexin B2	320	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)		CCATCTTGGCGTGCACCTTGT	0.652																																						ENST00000449103.1																			0				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						c.(958-960)caC>caT		plexin B2		G		0,3920		0,0,1960	43	52	49		960	-3.8	0	22		49	2,8322		0,2,4160	no	coding-synonymous	PLXNB2	NM_012401.3		0,2,6120	AA,AG,GG		0.024,0.0,0.0163		320/1839	50728054	2,12242	1960	4162	6122	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728054G>A		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.960C>T	22.37:g.50728054G>A						PLXNB2_ENST00000359337.4_Silent_p.H320H	p.H320H			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1100	-		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)	320			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.960C>T	CCDS43035.1																																																																																				0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		78	355	0	0	0	1	0	78	355					A	50728054	G	A	50728054	2	1	79	1	0	0	0	0	0	0	0	1	12166	1136	40	1		1	PLXNB2	22	50728054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8143	50728054	576512	21163	31480											
PLXNB2	23654	broad.mit.edu	37	chr22	50728215	50728215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggatgtcggggtcccGgcactgcaggtccatctcca	15	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728215G>A	ENST00000449103.1	-	3	939	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W			O15031	PLXB2_HUMAN	plexin B2	267	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)		TCGGGGTCCCGGCACTGCAGG	0.652																																						ENST00000449103.1																			0				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						c.(799-801)Cgg>Tgg		plexin B2							40	44	43					22																	50728215		2059	4181	6240	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728215G>A		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.799C>T	22.37:g.50728215G>A	ENSP00000409171:p.Arg267Trp					PLXNB2_ENST00000359337.4_Missense_Mutation_p.R267W	p.R267W			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	939	-		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)	267			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.799C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074264	0.36566	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.11169	2.8;2.8;2.8	4.62	2.49	0.30216	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.274000	0.05777	N	0.608001	T	0.17323	0.0416	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.55303	0.773	T	0.26573	-1.0099	10	0.66056	D	0.02	.	7.6582	0.28388	0.0801:0.0:0.5201:0.3998	.	267	O15031	PLXB2_HUMAN	W	267	ENSP00000409171:R267W;ENSP00000352288:R267W;ENSP00000392620:R267W	ENSP00000352288:R267W	R	-	1	2	PLXNB2	49070342	0.004000	0.15560	0.269000	0.24586	0.281000	0.26958	0.030000	0.13688	0.545000	0.28902	0.462000	0.41574	CGG		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		6	320	0	0	0	1	0	6	320					A	50728215	G	A	50728215	3	1	79	1	0	0	0	0	1	0	0	0	12166	1115	39	1	4857	1	PLXNB2	22	50728215	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	161	50728215	576351	21164	31481											
PLXNB2	23654	broad.mit.edu	37	chr22	50728347	50728347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagacgtaggggccgtcctCgaaggccgccacgaactgct	14	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728347C>T	ENST00000449103.1	-	3	807	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K			O15031	PLXB2_HUMAN	plexin B2	223	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)		GGGCCGTCCTCGAAGGCCGCC	0.622																																						ENST00000449103.1																			0				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						c.(667-669)Gag>Aag		plexin B2							58	65	63					22																	50728347		2120	4231	6351	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728347C>T		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.667G>A	22.37:g.50728347C>T	ENSP00000409171:p.Glu223Lys					PLXNB2_ENST00000359337.4_Missense_Mutation_p.E223K	p.E223K			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	807	-		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)	223			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.667G>A	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640349	0.47153	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.04758	3.56;3.56;3.56	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000026	T	0.04998	0.0134	L	0.37897	1.145	0.44149	D	0.996942	B	0.29162	0.235	B	0.25140	0.058	T	0.38394	-0.9663	10	0.08837	T	0.75	.	17.6365	0.88123	0.0:1.0:0.0:0.0	.	223	O15031	PLXB2_HUMAN	K	223	ENSP00000409171:E223K;ENSP00000352288:E223K;ENSP00000392620:E223K	ENSP00000352288:E223K	E	-	1	0	PLXNB2	49070474	0.950000	0.32346	0.991000	0.47740	0.926000	0.56050	2.585000	0.46111	2.391000	0.81399	0.462000	0.41574	GAG		0.622	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		61	272	0	0	0	1	0	61	272					T	50728347	C	T	50728347	3	4	79	1	0	0	0	0	1	0	0	0	12166	893	31	1	4989	1	PLXNB2	22	50728347	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	132	50728347	576219	21165	31482											
FAM116B	414918	broad.mit.edu	37	chr22	50752138	50752138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgcacatctgacggccGcttcttctgcacgccctgca	9	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50752138G>A	ENST00000413817.3	-	15	1290	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	407					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										TCTGACGGCCGCTTCTTCTGC	0.687																																						ENST00000413817.2																			0											c.(1219-1221)Cgg>Tgg		DENN/MADD domain containing 6B							18	22	20					22																	50752138		2034	4159	6193	SO:0001583	missense	414918							g.chr22:50752138G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1219C>T	22.37:g.50752138G>A	ENSP00000391524:p.Arg407Trp						p.R407W	NM_001001794.3	NP_001001794.3					15	1290	-								A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.1219C>T	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240602	0.58995	.	.	ENSG00000205593	ENST00000413817	.	.	.	4.96	1.37	0.22104	.	0.116518	0.53938	D	0.000055	T	0.69260	0.3091	M	0.80332	2.49	0.43841	D	0.996422	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.68146	-0.5486	9	0.87932	D	0	-35.8017	5.8841	0.18872	0.0911:0.0:0.4045:0.5044	.	407;407	Q8NEG7;C9JIV6	F116B_HUMAN;.	W	407	.	ENSP00000391524:R407W	R	-	1	2	FAM116B	49094710	0.990000	0.36364	0.725000	0.30721	0.644000	0.38419	0.977000	0.29475	0.457000	0.26962	0.462000	0.41574	CGG		0.687	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		8	33	0	0	0	1	0	8	33					A	50752138	G	A	50752138	3	1	79	1	0	0	0	0	1	0	0	0	5429	1086	38	1	562	1	FAM116B	22	50752138	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23791	50752138	552428	21166	31483											
SAPS2	9701	broad.mit.edu	37	chr22	50853043	50853043	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgaagcacatcggcacCtcagcgcttatggacctgct	11	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50853043C>A	ENST00000216061.5	+	6	847	c.477C>A	c.(475-477)acC>acA	p.T159T	PPP6R2_ENST00000395741.3_Silent_p.T159T|PPP6R2_ENST00000359139.3_Silent_p.T159T|PPP6R2_ENST00000395744.3_Silent_p.T159T			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	159						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						ACATCGGCACCTCAGCGCTTA	0.607																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(475-477)acC>acA		protein phosphatase 6, regulatory subunit 2							111	96	101					22																	50853043		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50853043C>A	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.477C>A	22.37:g.50853043C>A						PPP6R2_ENST00000395741.3_Silent_p.T159T|PPP6R2_ENST00000216061.5_Silent_p.T159T|PPP6R2_ENST00000395744.3_Silent_p.T159T	p.T159T	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			5	871	+			159					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.477C>A																																																																																					0.607	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		48	306	1	0	7.88023e-25	1	9.02574e-25	48	306					A	50853043	C	A	50853043	2	1	79	1	0	0	0	0	0	0	0	1	13887	668	24	3		3	SAPS2	22	50853043	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100905	50853043	451523	21167	31484											
SBF1	6305	broad.mit.edu	37	chr22	50899987	50899987	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatccccgtgaagatgaccCggtacgtggtgaggaagacg	15	10	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	ENST00000390679.3	-	22	2988	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000380817.3_Missense_Mutation_p.R935Q			O95248	MTMR5_HUMAN	SET binding factor 1	935	GRAM.				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)		GAAGATGACCCGGTACGTGGT	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2803-2805)cGg>cAg		SET binding factor 1							26	34	31					22																	50899987		2024	4145	6169	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50899987C>T	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.2804G>A	22.37:g.50899987C>T	ENSP00000375097:p.Arg935Gln					SBF1_ENST00000348911.6_Missense_Mutation_p.R936Q|SBF1_ENST00000390679.3_Missense_Mutation_p.R935Q	p.R935Q	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	22	2987	-		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)	935			GRAM.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2804G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.423355	0.96111	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86030	-2.06;-2.06;-2.06	3.96	3.96	0.45880	GRAM (2);	0.065333	0.64402	D	0.000018	D	0.92685	0.7675	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.996;0.99	D	0.94148	0.7403	10	0.87932	D	0	.	15.801	0.78453	0.0:1.0:0.0:0.0	.	935;936;935	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	Q	935;936;945;935	ENSP00000370196:R935Q;ENSP00000252027:R936Q;ENSP00000375097:R935Q	ENSP00000336522:R945Q	R	-	2	0	SBF1	49246853	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.492000	0.66893	2.048000	0.60808	0.467000	0.42956	CGG		0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				10	205	0	0	0	1	0	10	205					T	50899987	C	T	50899987	3	4	79	1	0	0	0	0	1	0	0	0	13908	652	23	1	2957	1	SBF1	22	50899987	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46944	50899987	404579	21168	31485											
SBF1	6305	broad.mit.edu	37	chr22	50903334	50903334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcccgcatccttgccacctCgtgggccaccagctagcggg	12	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	ENST00000390679.3	-	13	1529	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000380817.3_Missense_Mutation_p.E449K			O95248	MTMR5_HUMAN	SET binding factor 1	449					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)		CTTGCCACCTCGTGGGCCACC	0.642																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1345-1347)Gag>Aag		SET binding factor 1							44	48	47					22																	50903334		2109	4210	6319	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903334C>T	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.1345G>A	22.37:g.50903334C>T	ENSP00000375097:p.Glu449Lys					SBF1_ENST00000348911.6_Missense_Mutation_p.E450K|SBF1_ENST00000390679.3_Missense_Mutation_p.E449K	p.E449K	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	13	1528	-		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)	449					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1345G>A		.	.	.	.	.	.	.	.	.	.	C	13.40	2.225242	0.39300	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86497	-2.13;-2.13;-2.13	3.93	3.93	0.45458	.	0.301834	0.30820	N	0.008819	T	0.80237	0.4586	L	0.53249	1.67	0.44447	D	0.997375	P;B;B	0.37612	0.602;0.414;0.414	B;B;B	0.29440	0.102;0.051;0.051	T	0.78984	-0.1988	10	0.07325	T	0.83	.	15.7463	0.77944	0.0:1.0:0.0:0.0	.	449;450;449	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	K	449;450;460;459;449	ENSP00000370196:E449K;ENSP00000252027:E450K;ENSP00000375097:E449K	ENSP00000336522:E459K	E	-	1	0	SBF1	49250200	0.980000	0.34600	0.970000	0.41538	0.971000	0.66376	2.869000	0.48444	2.038000	0.60285	0.591000	0.81541	GAG		0.642	SBF1-201	KNOWN	basic	protein_coding	protein_coding				49	253	0	0	0	1	0	49	253					T	50903334	C	T	50903334	3	4	79	1	0	0	0	0	1	0	0	0	13908	893	31	1	4452	1	SBF1	22	50903334	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3347	50903334	401232	21169	31486											
SBF1	6305	broad.mit.edu	37	chr22	50904432	50904432	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactctgcagtggctctggCaagggtggaatgtgcacaca	14	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	ENST00000390679.3	-	9	1153	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000380817.3_Silent_p.L323L			O95248	MTMR5_HUMAN	SET binding factor 1	323					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)		GTGGCTCTGGCAAGGGTGGAA	0.612																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(967-969)ttG>ttA		SET binding factor 1							121	125	123					22																	50904432		2165	4277	6442	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50904432C>T	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.969G>A	22.37:g.50904432C>T						SBF1_ENST00000348911.6_Silent_p.L324L|SBF1_ENST00000390679.3_Silent_p.L323L	p.L323L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	9	1152	-		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)	323					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.969G>A																																																																																					0.612	SBF1-201	KNOWN	basic	protein_coding	protein_coding				91	475	0	0	0	1	0	91	475					T	50904432	C	T	50904432	2	4	79	1	0	0	0	0	0	0	0	1	13908	709	25	2		2	SBF1	22	50904432	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1098	50904432	400134	21170	31487											
SBF1	6305	broad.mit.edu	37	chr22	50905844	50905844	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggcacacattcaggccctCcacgtggatggcatagatga	11	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	ENST00000390679.3	-	5	656	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000380817.3_Nonsense_Mutation_p.E158*			O95248	MTMR5_HUMAN	SET binding factor 1	158	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				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)		TTCAGGCCCTCCACGTGGATG	0.627																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(472-474)Gag>Tag		SET binding factor 1							95	103	100					22																	50905844		2160	4245	6405	SO:0001587	stop_gained	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50905844C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.472G>T	22.37:g.50905844C>A	ENSP00000375097:p.Glu158*					SBF1_ENST00000348911.6_Nonsense_Mutation_p.E159*|SBF1_ENST00000390679.3_Nonsense_Mutation_p.E158*	p.E158*	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	5	655	-		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)	158			DENN.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Nonsense_Mutation	SNP	ENST00000390679.3	37	c.472G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.469269	0.98302	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.75	4.75	0.60458	.	0.570441	0.17223	N	0.182256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.3763	0.55281	0.0:0.9154:0.0:0.0846	.	.	.	.	X	158;159;169;168;158	.	ENSP00000336522:E168X	E	-	1	0	SBF1	49252710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.532000	0.67154	2.467000	0.83353	0.561000	0.74099	GAG		0.627	SBF1-201	KNOWN	basic	protein_coding	protein_coding				139	519	1	0	2.87455e-64	1	3.63151e-64	139	519					A	50905844	C	A	50905844	4	1	79	1	0	0	0	0	0	1	0	0	13908	864	30	3	5357	3	SBF1	22	50905844	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1412	50905844	398722	21171	31488											
ADM2	79924	broad.mit.edu	37	chr22	50921212	50921212	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccagctcctgcgagtgggCtgtgtgctgggcacctgcca	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50921212C>A	ENST00000395738.2	+	2	619	c.327C>A	c.(325-327)ggC>ggA	p.G109G	ADM2_ENST00000362068.2_Missense_Mutation_p.A26D|ADM2_ENST00000395737.1_Silent_p.G109G	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	109					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(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)		TGCGAGTGGGCTGTGTGCTGG	0.687																																						ENST00000362068.2																			0				breast(1)|kidney(1)	2						c.(76-78)gCt>gAt		adrenomedullin 2							8	10	10					22																	50921212		2072	4128	6200	SO:0001819	synonymous_variant	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921212C>A	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"Endogenous ligands"	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.327C>A	22.37:g.50921212C>A						ADM2_ENST00000395738.2_Silent_p.G109G|ADM2_ENST00000395737.1_Silent_p.G109G	p.A26D			Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	592	+		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)	0					Q3LFQ0	Missense_Mutation	SNP	ENST00000395738.2	37	c.77C>A	CCDS33682.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128692	0.56721	.	.	ENSG00000128165	ENST00000362068	.	.	.	4.62	3.61	0.41365	.	.	.	.	.	T	0.46964	0.1420	.	.	.	0.24873	N	0.992271	.	.	.	.	.	.	T	0.40232	-0.9574	5	0.87932	D	0	.	10.2761	0.43510	0.0:0.9014:0.0:0.0986	.	.	.	.	D	26	.	ENSP00000354955:A26D	A	+	2	0	ADM2	49268078	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	1.381000	0.34362	0.936000	0.37367	0.448000	0.29417	GCT		0.687	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		22	109	1	0	1.10923e-09	1	1.16946e-09	22	109					A	50921212	C	A	50921212	2	1	79	1	0	0	0	0	0	0	0	1	322	784	28	3		3	ADM2	22	50921212	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15368	50921212	383354	21172	31489											
LMF2	91289	broad.mit.edu	37	chr22	50944481	50944481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcgagtagaaagcagCcaagcgcaggcgtcgaatgg	14	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50944481C>T	ENST00000474879.2	-	5	772	c.757G>A	c.(757-759)Gct>Act	p.A253T	NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.A228T|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T|NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395701.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	253						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)		TAGAAAGCAGCCAAGCGCAGG	0.652																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(682-684)Gct>Act		lipase maturation factor 2							23	25	25					22																	50944481		2190	4289	6479	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50944481C>T	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.757G>A	22.37:g.50944481C>T	ENSP00000424381:p.Ala253Thr					LMF2_ENST00000474879.2_Missense_Mutation_p.A253T|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Missense_Mutation_p.A253T	p.A228T			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	5	850	-		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)	253					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.682G>A	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.815|4.815	0.151616|0.151616	0.09185|0.09185	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080|ENST00000487499	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	4.77|4.77	0.0864|0.0864	0.14446|0.14446	.|.	1.011940|.	0.07905|.	N|.	0.973284|.	T|T	0.21841|0.21841	0.0526|0.0526	L|L	0.31526|0.31526	0.94|0.94	0.09310|0.09310	N|N	1|1	B;B|.	0.12630|.	0.006;0.004|.	B;B|.	0.18561|.	0.022;0.006|.	T|T	0.22730|0.22730	-1.0208|-1.0208	10|5	0.17369|.	T|.	0.5|.	-7.0581|-7.0581	1.5665|1.5665	0.02605|0.02605	0.3843:0.3235:0.1292:0.163|0.3843:0.3235:0.1292:0.163	.|.	253;228|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	T|D	253;253;228|259	ENSP00000370173:A253T;ENSP00000424381:A253T;ENSP00000216080:A228T|.	ENSP00000216080:A228T|.	A|G	-|-	1|2	0|0	LMF2|LMF2	49291347|49291347	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.189000|0.189000	0.23516|0.23516	0.424000|0.424000	0.21330|0.21330	-0.065000|-0.065000	0.13021|0.13021	0.650000|0.650000	0.86243|0.86243	GCT|GGC		0.652	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		13	43	0	0	0	1	0	13	43					T	50944481	C	T	50944481	3	4	79	1	0	0	0	0	1	0	0	0	8879	739	26	2	1406	2	LMF2	22	50944481	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	23269	50944481	360085	21173	31490											
LMF2	91289	broad.mit.edu	37	chr22	50945279	50945279	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgcagtgggctcagcaGcagggctcccagggccacta	16	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50945279G>A	ENST00000474879.2	-	2	295	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Silent_p.L69L|LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Silent_p.L94L|NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395701.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	94						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)		GGGCTCAGCAGCAGGGCTCCC	0.667																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(205-207)Ctg>Ttg		lipase maturation factor 2							30	27	28					22																	50945279		2182	4290	6472	SO:0001819	synonymous_variant	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50945279G>A	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.280C>T	22.37:g.50945279G>A						LMF2_ENST00000474879.2_Silent_p.L94L|LMF2_ENST00000505981.1_5'UTR|LMF2_ENST00000380796.3_Silent_p.L94L	p.L69L			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	373	-		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)	94					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	ENST00000474879.2	37	c.205C>T	CCDS14093.2																																																																																				0.667	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		4	68	0	0	0	1	0	4	68					A	50945279	G	A	50945279	2	1	79	1	0	0	0	0	0	0	0	1	8879	962	34	2		2	LMF2	22	50945279	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	798	50945279	359287	21174	31491											
NCAPH2	29781	broad.mit.edu	37	chr22	50956564	50956564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttttgccagcacagccGtcagggtgaggtcctggcca	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50956564G>A	ENST00000420993.2	+	7	625	c.503G>A	c.(502-504)cGt>cAt	p.R168H	NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H|NCAPH2_ENST00000395701.3_Missense_Mutation_p.R168H	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		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;0.212)		CAGCACAGCCGTCAGGGTGAG	0.627																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(502-504)cGt>cAt		non-SMC condensin II complex, subunit H2							47	52	50					22																	50956564		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50956564G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.503G>A	22.37:g.50956564G>A	ENSP00000410088:p.Arg168His					NCAPH2_ENST00000299821.11_Missense_Mutation_p.R168H|NCAPH2_ENST00000420993.2_Missense_Mutation_p.R168H|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R168H	p.R168H			Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	7	597	+		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)	168					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.503G>A	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102033	0.56183	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	5.23	4.22	0.49857	.	0.334684	0.31747	N	0.007121	T	0.48572	0.1507	L	0.43152	1.355	0.27283	N	0.958041	D;D;D;D	0.89917	1.0;0.992;0.993;0.997	P;P;P;P	0.61592	0.891;0.809;0.88;0.754	T	0.39057	-0.9632	9	0.15066	T	0.55	-4.0E-4	12.5423	0.56179	0.0813:0.0:0.9187:0.0	.	168;168;168;168	G3XAG4;Q6IBW4-4;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	H	168;168;168;134;168	.	ENSP00000299821:R168H	R	+	2	0	NCAPH2	49303430	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	2.777000	0.47717	1.217000	0.43442	-0.379000	0.06801	CGT		0.627	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		11	236	0	0	0	1	0	11	236					A	50956564	G	A	50956564	3	1	79	1	0	0	0	0	1	0	0	0	10252	1145	40	1	529	1	NCAPH2	22	50956564	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11285	50956564	348002	21175	31492											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987929	50987929	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccctgtggcccacgaggCtgtggcctgccgtggggaca	15	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50987929C>A	ENST00000395676.2	+	1	1468	c.1334C>A	c.(1333-1335)gCt>gAt	p.A445D	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	445										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCACGAGGCTGTGGCCTGC	0.662																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1333-1335)gCt>gAt		kelch domain containing 7B							67	70	69					22																	50987929		2200	4299	6499	SO:0001583	missense	113730							g.chr22:50987929C>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1334C>A	22.37:g.50987929C>A	ENSP00000379034:p.Ala445Asp						p.A445D	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1468	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	445						Missense_Mutation	SNP	ENST00000395676.2	37	c.1334C>A	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490482	0.84962	.	.	ENSG00000130487	ENST00000395676	T	0.70631	-0.5	5.35	4.31	0.51392	Kelch-type beta propeller (1);	0.000000	0.41294	U	0.000917	D	0.83857	0.5345	M	0.80616	2.505	0.42561	D	0.993145	D	0.89917	1.0	D	0.85130	0.997	D	0.86384	0.1731	10	0.87932	D	0	.	13.6955	0.62578	0.0:0.844:0.156:0.0	.	445	Q96G42	KLD7B_HUMAN	D	445	ENSP00000379034:A445D	ENSP00000379034:A445D	A	+	2	0	KLHDC7B	49334795	1.000000	0.71417	0.885000	0.34714	0.981000	0.71138	4.626000	0.61269	1.234000	0.43709	0.491000	0.48974	GCT		0.662	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		111	516	1	0	1.38358e-46	1	1.70057e-46	111	516					A	50987929	C	A	50987929	3	1	79	1	0	0	0	0	1	0	0	0	8391	797	28	3	1336	3	KLHDC7B	22	50987929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	31365	50987929	316637	21176	31493											
CPT1B	1375	broad.mit.edu	37	chr22	51009709	51009709	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcataggtcaggcagaActtacccctgtcctgggata	11	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51009709A>C	ENST00000360719.2	-	15	1890	c.1753T>G	c.(1753-1755)Ttc>Gtc	p.F585V	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V|CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	585					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)		GTCAGGCAGAACTTACCCCTG	0.607																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1753-1755)Ttc>Gtc		carnitine palmitoyltransferase 1B (muscle)							87	79	82					22																	51009709		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51009709A>C	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.1753T>G	22.37:g.51009709A>C	ENSP00000353945:p.Phe585Val					CPT1B_ENST00000312108.7_Missense_Mutation_p.F585V|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.F551V|CPT1B_ENST00000405237.3_Missense_Mutation_p.F585V|CPT1B_ENST00000440709.1_Missense_Mutation_p.F504V|CPT1B_ENST00000434492.2_Missense_Mutation_p.F380V|CPT1B_ENST00000395650.2_Missense_Mutation_p.F585V	p.F585V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	15	1890	-		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)	585					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1753T>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377009	0.82682	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.82	3.67	0.42095	.	0.048406	0.85682	N	0.000000	D	0.92708	0.7682	M	0.77712	2.385	0.80722	D	1	B;D;D;D	0.89917	0.248;0.979;1.0;1.0	B;D;D;D	0.77004	0.064;0.94;0.989;0.984	D	0.91723	0.5390	10	0.87932	D	0	-29.2963	6.6287	0.22845	0.762:0.1573:0.0807:0.0	.	504;551;380;585	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	585;585;585;551;504;380;585	ENSP00000385486:F585V;ENSP00000312189:F585V;ENSP00000353945:F585V;ENSP00000409342:F551V;ENSP00000414713:F504V;ENSP00000410966:F380V;ENSP00000379011:F585V	ENSP00000312189:F585V	F	-	1	0	CPT1B	49356575	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.868000	0.69605	1.002000	0.39104	0.459000	0.35465	TTC		0.607	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		72	228	0	0	0	1	0	72	228					C	51009709	A	C	51009709	3	2	79	1	0	0	0	0	1	0	0	0	3841	43	2	4	585	4	CPT1B	22	51009709	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	21780	51009709	294857	21177	31494											
CPT1B	1375	broad.mit.edu	37	chr22	51011411	51011411	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagggccacgaagaaagcGgcacgctcgatggcctccaa	12	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51011411G>A	ENST00000360719.2	-	11	1382	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000395650.2_Silent_p.A415A|CPT1B_ENST00000405237.3_Silent_p.A415A|CPT1B_ENST00000312108.7_Silent_p.A415A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	415					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)		CGAAGAAAGCGGCACGCTCGA	0.592																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1243-1245)gcC>gcT		carnitine palmitoyltransferase 1B (muscle)							97	91	93					22																	51011411		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51011411G>A	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.1245C>T	22.37:g.51011411G>A						CPT1B_ENST00000312108.7_Silent_p.A415A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.A381A|CPT1B_ENST00000405237.3_Silent_p.A415A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Silent_p.A212A|CPT1B_ENST00000395650.2_Silent_p.A415A	p.A415A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	11	1382	-		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)	415					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.1245C>T	CCDS14098.1																																																																																				0.592	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		130	483	0	0	0	1	0	130	483					A	51011411	G	A	51011411	2	1	79	1	0	0	0	0	0	0	0	1	3841	1103	39	1		1	CPT1B	22	51011411	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1702	51011411	293155	21178	31495											
CPT1B	1375	broad.mit.edu	37	chr22	51012041	51012041	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggaactgcatctccagatcCtgaggcttgagcagacgggc	13	11	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012041C>A	ENST00000360719.2	-	10	1211	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	358					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)		TCTCCAGATCCTGAGGCTTGA	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1072-1074)caG>caT		carnitine palmitoyltransferase 1B (muscle)							53	52	53					22																	51012041		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012041C>A	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.1074G>T	22.37:g.51012041C>A	ENSP00000353945:p.Gln358His					CPT1B_ENST00000312108.7_Missense_Mutation_p.Q358H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.Q324H|CPT1B_ENST00000405237.3_Missense_Mutation_p.Q358H|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000434492.2_Missense_Mutation_p.Q155H|CPT1B_ENST00000395650.2_Missense_Mutation_p.Q358H	p.Q358H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	10	1211	-		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)	358					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1074G>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245331	0.22796	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;T;T;D	0.89415	-2.51;-2.51;-2.51;-1.37;-1.37;-2.51	5.27	-3.92	0.04155	.	0.547236	0.20178	N	0.097594	T	0.69931	0.3166	N	0.01464	-0.85	0.09310	N	0.999997	B;B;B	0.26775	0.083;0.159;0.159	B;B;B	0.42625	0.043;0.217;0.393	T	0.68021	-0.5519	10	0.14252	T	0.57	-3.961	3.712	0.08423	0.1123:0.1921:0.4703:0.2252	.	324;155;358	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	H	358;358;358;324;155;358	ENSP00000385486:Q358H;ENSP00000312189:Q358H;ENSP00000353945:Q358H;ENSP00000409342:Q324H;ENSP00000410966:Q155H;ENSP00000379011:Q358H	ENSP00000312189:Q358H	Q	-	3	2	CPT1B	49358907	0.000000	0.05858	0.061000	0.19648	0.902000	0.53008	-2.454000	0.01004	-0.741000	0.04797	0.555000	0.69702	CAG		0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		57	280	1	0	2.17126e-26	1	2.5019e-26	57	280					A	51012041	C	A	51012041	3	1	79	1	0	0	0	0	1	0	0	0	3841	680	24	3	1284	3	CPT1B	22	51012041	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	630	51012041	292525	21179	31496											
CPT1B	1375	broad.mit.edu	37	chr22	51012062	51012062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggcttgagcagacgggcGccctcatagagccacagctt	13	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012062G>A	ENST00000360719.2	-	10	1190	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Silent_p.G351G|CPT1B_ENST00000434492.2_Silent_p.G148G|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000395650.2_Silent_p.G351G|CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000312108.7_Silent_p.G351G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	351					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)		GCAGACGGGCGCCCTCATAGA	0.612																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1051-1053)ggC>ggT		carnitine palmitoyltransferase 1B (muscle)							42	41	41					22																	51012062		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012062G>A	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.1053C>T	22.37:g.51012062G>A						CPT1B_ENST00000312108.7_Silent_p.G351G|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.G317G|CPT1B_ENST00000405237.3_Silent_p.G351G|CPT1B_ENST00000440709.1_Silent_p.G351G|CPT1B_ENST00000434492.2_Silent_p.G148G|CPT1B_ENST00000395650.2_Silent_p.G351G	p.G351G	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	10	1190	-		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)	351					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.1053C>T	CCDS14098.1																																																																																				0.612	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		28	248	0	0	0	1	0	28	248					A	51012062	G	A	51012062	2	1	79	1	0	0	0	0	0	0	0	1	3841	1074	38	1		1	CPT1B	22	51012062	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21	51012062	292504	21180	31497											
CPT1B	1375	broad.mit.edu	37	chr22	51014508	51014508	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	catgagagggctcctgcctcGaaggtagatgtactcttccc	11	12	1	2	rs374942225		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51014508G>A	ENST00000360719.2	-	7	870	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	245					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)	p.R245*(1)		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)		CTCCTGCCTCGAAGGTAGATG	0.582											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)	ENST00000360719.2																			1	Substitution - Nonsense(1)	p.R245*(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(733-735)Cga>Tga		carnitine palmitoyltransferase 1B (muscle)		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	102	89	93		631,733,733,733,733,733,733	3.8	1	22		93	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	CPT1B	NM_001145134.1,NM_001145135.1,NM_001145136.1,NM_001145137.1,NM_004377.3,NM_152245.2,NM_152246.2	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	211/739,245/773,245/692,245/773,245/773,245/773,245/773	51014508	1,13005	2203	4300	6503	SO:0001587	stop_gained	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51014508G>A	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.733C>T	22.37:g.51014508G>A	ENSP00000353945:p.Arg245*		OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_ENST00000312108.7_Nonsense_Mutation_p.R245*|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Nonsense_Mutation_p.R211*|CPT1B_ENST00000405237.3_Nonsense_Mutation_p.R245*|CPT1B_ENST00000440709.1_Nonsense_Mutation_p.R245*|CPT1B_ENST00000434492.2_Nonsense_Mutation_p.R42*|CPT1B_ENST00000395650.2_Nonsense_Mutation_p.R245*	p.R245*	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	7	870	-		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)	245					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Nonsense_Mutation	SNP	ENST00000360719.2	37	c.733C>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	36	5.597902	0.96602	0.0	1.16E-4	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	.	.	.	4.81	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4107	9.9502	0.41634	0.0:0.0:0.63:0.37	.	.	.	.	X	245;245;245;211;245;42;245	.	ENSP00000312189:R245X	R	-	1	2	CPT1B	49361374	0.582000	0.26749	0.967000	0.41034	0.997000	0.91878	1.018000	0.30002	1.210000	0.43336	0.561000	0.74099	CGA		0.582	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		74	336	0	0	0	1	0	74	336					A	51014508	G	A	51014508	4	1	79	1	0	0	0	0	0	1	0	0	3841	1066	37	1	1637	1	CPT1B	22	51014508	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2446	51014508	290058	21181	31498											
CPT1B	1375	broad.mit.edu	37	chr22	51015765	51015765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccttacccctgagggaggCatctctggatgcaactgacc	10	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51015765C>T	ENST00000360719.2	-	3	406	c.269G>A	c.(268-270)tGc>tAc	p.C90Y	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	90					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)		CTGAGGGAGGCATCTCTGGAT	0.617																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(268-270)tGc>tAc		carnitine palmitoyltransferase 1B (muscle)							72	66	68					22																	51015765		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51015765C>T	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.269G>A	22.37:g.51015765C>T	ENSP00000353945:p.Cys90Tyr					CPT1B_ENST00000312108.7_Missense_Mutation_p.C90Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000405237.3_Missense_Mutation_p.C90Y|CPT1B_ENST00000440709.1_Missense_Mutation_p.C90Y|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.C90Y	p.C90Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	3	406	-		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)	90					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.269G>A	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414432	0.01145	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.25	0.368	0.16146	.	0.732438	0.14072	N	0.343293	T	0.32526	0.0832	N	0.00793	-1.18	0.09310	N	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40136	-0.9579	10	0.02654	T	1	-2.9602	3.3974	0.07311	0.1851:0.355:0.0:0.4598	.	90;90;90	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	Y	90	ENSP00000385486:C90Y;ENSP00000312189:C90Y;ENSP00000353945:C90Y;ENSP00000409342:C90Y;ENSP00000414713:C90Y;ENSP00000379011:C90Y;ENSP00000406316:C90Y	ENSP00000312189:C90Y	C	-	2	0	CPT1B	49362631	0.000000	0.05858	0.264000	0.24511	0.960000	0.62799	-0.694000	0.05115	0.230000	0.21059	0.561000	0.74099	TGC		0.617	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		11	289	0	0	0	1	0	11	289					T	51015765	C	T	51015765	3	4	79	1	0	0	0	0	1	0	0	0	3841	710	25	2	2117	2	CPT1B	22	51015765	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1257	51015765	288801	21182	31499											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51043397	51043397	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcgctgctaggcggcgGtcaggtctcgggggacacct	18	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51043397G>A	ENST00000399908.2	+	3	1588	c.872G>A	c.(871-873)gGt>gAt	p.G291D	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	557	Necessary for interaction with FGF13.|Ser-rich.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAGGCGGCGGTCAGGTCTCG	0.672																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(871-873)gGt>gAt		mitogen-activated protein kinase 8 interacting protein 2							22	27	25					22																	51043397		2096	4150	6246	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51043397G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.872G>A	22.37:g.51043397G>A	ENSP00000382792:p.Gly291Asp					MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G177D|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G291D|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G556D|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G262D	p.G291D	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1588	+		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)	557			Ser-rich.		Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.872G>A		.	.	.	.	.	.	.	.	.	.	G	0.018	-1.485847	0.01018	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T	0.41758	2.31;0.99;1.34;2.31;2.29	4.55	-2.65	0.06095	Src homology-3 domain (1);	1.288170	0.05115	N	0.489545	T	0.23289	0.0563	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15350	-1.0440	9	0.23891	T	0.37	-13.0965	5.0843	0.14673	0.5027:0.2628:0.2345:0.0	.	529;557	E7EQG6;Q13387	.;JIP2_HUMAN	D	291;556;177;291;262	ENSP00000382796:G291D;ENSP00000330572:G556D;ENSP00000340015:G177D;ENSP00000382792:G291D;ENSP00000008876:G262D	ENSP00000008876:G262D	G	+	2	0	MAPK8IP2	49390263	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.607000	0.05648	-0.375000	0.07955	0.462000	0.41574	GGT		0.672	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		54	209	0	0	0	1	0	54	209					A	51043397	G	A	51043397	3	1	79	1	0	0	0	0	1	0	0	0	9326	1261	44	2	1777	2	MAPK8IP2	22	51043397	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27632	51043397	261169	21183	31500											
ARSA	410	broad.mit.edu	37	chr22	51063696	51063696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgaaggtcacagctgcGtctaactgggccttgagcag	15	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51063696G>A	ENST00000547307.1	-	8	1806	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000216124.5_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000395621.3_Silent_p.D469D			P15289	ARSA_HUMAN	arylsulfatase A	467					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)	TCACAGCTGCGTCTAACTGGG	0.677																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(1399-1401)gaC>gaT		arylsulfatase A	Micafungin(DB01141)						32	33	33					22																	51063696		2203	4300	6503	SO:0001819	synonymous_variant	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51063696G>A	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.1401C>T	22.37:g.51063696G>A						ARSA_ENST00000356098.5_Silent_p.D469D|ARSA_ENST00000547805.1_Silent_p.D467D|ARSA_ENST00000395621.3_Silent_p.D469D|ARSA_ENST00000453344.2_Silent_p.D383D|ARSA_ENST00000395619.3_Silent_p.D469D|ARSA_ENST00000216124.5_Silent_p.D469D	p.D467D			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	1806	-		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)	467					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Silent	SNP	ENST00000547307.1	37	c.1401C>T																																																																																					0.677	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		64	225	0	0	0	1	0	64	225					A	51063696	G	A	51063696	2	1	79	1	0	0	0	0	0	0	0	1	988	1136	40	1		1	ARSA	22	51063696	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20299	51063696	240870	21184	31501											
SHANK3	85358	broad.mit.edu	37	chr22	51142313	51142313	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggaccggacgaagcgGctctttcggcactacacagt	14	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51142313G>T	ENST00000414786.2	+	13	1823	c.1596G>T	c.(1594-1596)cgG>cgT	p.R532R	SHANK3_ENST00000445220.2_Silent_p.R547R|SHANK3_ENST00000262795.3_Silent_p.R562R			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	546					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)		GGACGAAGCGGCTCTTTCGGC	0.642																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(1594-1596)cgG>cgT		SH3 and multiple ankyrin repeat domains 3							34	39	37					22																	51142313		2117	4202	6319	SO:0001819	synonymous_variant	85358							g.chr22:51142313G>T	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.1596G>T	22.37:g.51142313G>T						SHANK3_ENST00000445220.2_Silent_p.R547R|SHANK3_ENST00000262795.3_Silent_p.R562R	p.R532R			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	13	1823	+		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)	562					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.1596G>T																																																																																					0.642	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		10	55	1	0	6.40141e-05	1	6.5221e-05	10	55					T	51142313	G	T	51142313	2	4	79	1	0	0	0	0	0	0	0	1	14316	1190	42	3		3	SHANK3	22	51142313	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	78617	51142313	162253	21185	31502											
ACR	49	broad.mit.edu	37	chr22	51182561	51182561	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgtgtaactcgacccAgtggtacaatgggcgcgttc	13	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51182561A>C	ENST00000216139.5	+	4	678	c.638A>C	c.(637-639)cAg>cCg	p.Q213P	AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	213	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)		AACTCGACCCAGTGGTACAAT	0.567																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(637-639)cAg>cCg		acrosin							201	174	183					22																	51182561		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51182561A>C	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.638A>C	22.37:g.51182561A>C	ENSP00000216139:p.Gln213Pro						p.Q213P	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	4	678	+		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)	213			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.638A>C	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	15.78	2.933640	0.52866	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	4.48	0.716	0.18191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.999557	0.08091	N	0.999345	T	0.57504	0.2058	N	0.25380	0.74	0.09310	N	1	D	0.57571	0.98	P	0.61070	0.883	T	0.48736	-0.9009	10	0.39692	T	0.17	-2.5812	7.2849	0.26333	0.6744:0.0:0.3256:0.0	.	213	P10323	ACRO_HUMAN	P	213	ENSP00000216139:Q213P	ENSP00000216139:Q213P	Q	+	2	0	ACR	49529427	0.000000	0.05858	0.025000	0.17156	0.985000	0.73830	-0.661000	0.05311	-0.081000	0.12662	0.370000	0.22315	CAG		0.567	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		78	594	0	0	0	1	0	78	594					C	51182561	A	C	51182561	3	2	79	1	0	0	0	0	1	0	0	0	169	188	7	4	652	4	ACR	22	51182561	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	40248	51182561	122005	21186	31503											
RABL2B	11158	broad.mit.edu	37	chr22	51208393	51208393	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgaactcccgaagctctgTataccaggtgctcaggttcc	9	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51208393T>C	ENST00000395598.3	-	6	560	c.349A>G	c.(349-351)Aca>Gca	p.T117A	RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395595.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A	NM_001003789.1|NM_001130919.1|NM_001130922.1|NM_007081.2	NP_001003789.1|NP_001124391.1|NP_001124394.1|NP_009012.1	Q9UNT1	RBL2B_HUMAN	RAB, member of RAS oncogene family-like 2B	117					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)	1		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;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGCTCTGTATACCAGGTG	0.498																																					GBM(148;358 1894 4987 13698 40400)	ENST00000395595.3																			0				lung(1)	1						c.(349-351)Aca>Gca		RAB, member of RAS oncogene family-like 2B							55	54	55					22																	51208393		2202	4296	6498	SO:0001583	missense	11158				small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr22:51208393T>C		CCDS14102.1, CCDS33683.1, CCDS46738.1	22q13.33	2014-05-09			ENSG00000079974	ENSG00000079974		"RAB, member RAS oncogene"	9800	protein-coding gene	gene with protein product		605413				10444334	Standard	NM_001130919		Approved		uc011asg.1	Q9UNT1	OTTHUMG00000150156	ENST00000395598.3:c.349A>G	22.37:g.51208393T>C	ENSP00000378962:p.Thr117Ala					RABL2B_ENST00000354869.3_Missense_Mutation_p.T117A|RABL2B_ENST00000395591.1_Intron|RABL2B_ENST00000395598.3_Missense_Mutation_p.T117A|RABL2B_ENST00000435118.1_Missense_Mutation_p.T117A|RABL2B_ENST00000465063.1_5'UTR|RABL2B_ENST00000395593.3_Missense_Mutation_p.T117A	p.T117A	NM_001130921.1	NP_001124393.1	Q9UNT1	RBL2B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)	7	816	-		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)	117					Q5TZT8|Q96C33	Missense_Mutation	SNP	ENST00000395598.3	37	c.349A>G	CCDS14102.1	.	.	.	.	.	.	.	.	.	.	T	0.071	-1.202051	0.01581	.	.	ENSG00000079974	ENST00000435118;ENST00000354869;ENST00000395593;ENST00000395598;ENST00000395595	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.9	-5.15	0.02866	Small GTP-binding protein domain (1);	0.643224	0.16329	N	0.219208	T	0.50000	0.1590	N	0.12611	0.24	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.001;0.006;0.003	T	0.29243	-1.0018	10	0.48119	T	0.1	-0.5868	2.8444	0.05539	0.1304:0.1695:0.1294:0.5707	.	117;117;117	Q9UNT1-3;Q9UNT1;Q9UNT1-2	.;RBL2B_HUMAN;.	A	117	ENSP00000401906:T117A;ENSP00000346940:T117A;ENSP00000378958:T117A;ENSP00000378962:T117A;ENSP00000378960:T117A	ENSP00000346940:T117A	T	-	1	0	RABL2B	49555259	0.825000	0.29262	0.007000	0.13788	0.033000	0.12548	0.870000	0.28010	-0.604000	0.05760	-0.467000	0.05162	ACA		0.498	RABL2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316606.1	NM_001003789		30	315	0	0	0	1	0	30	315					C	51208393	T	C	51208393	3	2	79	1	0	0	0	0	1	0	0	0	13021	1638	57	4	386	4	RABL2B	22	51208393	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	25832	51208393	96173	21187	31504											
PLCXD1	55344	broad.mit.edu	37	chrX	207360	207360	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgccggggtgcggtacctgGacctgcggatagcccacatg	15	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:207360G>T	ENST00000381657.2	+	4	824	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	104	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGTACCTGGACCTGCGGAT	0.652																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(310-312)Gac>Tac		phosphatidylinositol-specific phospholipase C, X domain containing 1							218	185	196					X																	207360		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:207360G>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.310G>T	X.37:g.207360G>T	ENSP00000371073:p.Asp104Tyr					PLCXD1_ENST00000399012.1_Missense_Mutation_p.D104Y|PLCXD1_ENST00000381663.3_Missense_Mutation_p.D104Y|PLCXD1_ENST00000484611.2_3'UTR	p.D104Y	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			4	824	+		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)	104			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.310G>T	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	14.59	2.582150	0.46006	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	2.14	2.14	0.27477	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.000000	0.85682	U	0.000000	T	0.78233	0.4251	.	.	.	0.09310	N	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.67507	-0.5653	9	0.87932	D	0	.	9.9412	0.41580	0.0:0.0:1.0:0.0	.	104	Q9NUJ7	PLCX1_HUMAN	Y	104	ENSP00000381976:D104Y;ENSP00000394848:D104Y;ENSP00000371073:D104Y;ENSP00000371079:D104Y;ENSP00000399510:D104Y;ENSP00000405307:D104Y	ENSP00000371073:D104Y	D	+	1	0	PLCXD1	147360	1.000000	0.71417	0.996000	0.52242	0.673000	0.39480	5.465000	0.66725	0.876000	0.35872	0.398000	0.26397	GAC		0.652	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		66	213	1	0	5.45122e-27	1	6.30096e-27	66	213					T	207360	G	T	207360	3	4	79	1	0	0	0	0	1	0	0	0	12083	1174	41	3	320	3	PLCXD1	23	207360	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08		207360	155063200	21188	31505											
PPP2R3B	28227	broad.mit.edu	37	chrX	301612	301612	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctcctcgtagaagtactcGagctcgaacatggacagggc	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:301612G>A	ENST00000390665.3	-	10	1257	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	413	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)				AGAAGTACTCGAGCTCGAACA	0.652													g|||	10	0.00199681	0.0076	0.0	5008	,	,		14355	0.0		0.0	False		,,,				2504	0.0					ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(1237-1239)ctC>ctT		protein phosphatase 2, regulatory subunit B'', beta				32,4358		0,32,2163	142	104	117		1239	-0.8	1	X	dbSNP_134	117	0,8576		0,0,4288	no	coding-synonymous	PPP2R3B	NM_013239.4		0,32,6451	AA,AG,GG		0.0,0.7289,0.2468		413/576	301612	32,12934	2195	4288	6483	SO:0001819	synonymous_variant	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:301612G>A	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.1239C>T	X.37:g.301612G>A							p.L413L	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			10	1257	-		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)	413			EF-hand.		Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	c.1239C>T	CCDS14104.1																																																																																				0.652	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		9	277	0	0	0	1	0	9	277					A	301612	G	A	301612	2	1	79	1	0	0	0	0	0	0	0	1	12436	1045	37	1		1	PPP2R3B	23	301612	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	94252	301612	154968948	21189	31506											
P2RY8	286530	broad.mit.edu	37	chrX	1584758	1584758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcccaccgcgcgcctccGctgctcccggccgtgcgcct	12	22	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1584758G>A	ENST00000381297.4	-	2	904	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCGCCTCCGCTGCTCCCGG	0.662			T	CRLF2	"B-ALL, Downs associated ALL"																																	ENST00000381297.4				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(694-696)Cgg>Tgg		purinergic receptor P2Y, G-protein coupled, 8							46	35	39					X																	1584758		2203	4293	6496	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584758G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.694C>T	X.37:g.1584758G>A	ENSP00000370697:p.Arg232Trp						p.R232W	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	904	-		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)	232						Missense_Mutation	SNP	ENST00000381297.4	37	c.694C>T	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.539099	0.27475	.	.	ENSG00000182162	ENST00000381297	T	0.73152	-0.72	2.73	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.370473	0.22113	U	0.064443	T	0.64875	0.2638	L	0.31476	0.935	0.09310	N	1	D	0.76494	0.999	P	0.60473	0.875	T	0.60073	-0.7334	10	0.87932	D	0	.	4.8963	0.13751	0.0:0.2182:0.2192:0.5626	.	232	Q86VZ1	P2RY8_HUMAN	W	232	ENSP00000370697:R232W	ENSP00000370697:R232W	R	-	1	2	P2RY8	1544758	0.901000	0.30685	0.008000	0.14137	0.500000	0.33767	0.669000	0.25142	-0.839000	0.04212	0.279000	0.19357	CGG		0.662	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		10	153	0	0	0	1	0	10	153					A	1584758	G	A	1584758	3	1	79	1	0	0	0	0	1	0	0	0	11397	1086	38	1	389	1	P2RY8	23	1584758	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1283146	1584758	153685802	21190	31507											
P2RY8	286530	broad.mit.edu	37	chrX	1585098	1585098	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccccaggaagcgctccacGctgatacaggtcatggtgag	12	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1585098G>A	ENST00000381297.4	-	2	564	c.354C>T	c.(352-354)agC>agT	p.S118S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCGCTCCACGCTGATACAGG	0.632			T	CRLF2	"B-ALL, Downs associated ALL"																																	ENST00000381297.4				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(352-354)agC>agT		purinergic receptor P2Y, G-protein coupled, 8							108	103	105					X																	1585098		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585098G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.354C>T	X.37:g.1585098G>A							p.S118S	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	564	-		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)	118						Silent	SNP	ENST00000381297.4	37	c.354C>T	CCDS14115.1																																																																																				0.632	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		26	79	0	0	0	1	0	26	79					A	1585098	G	A	1585098	2	1	79	1	0	0	0	0	0	0	0	1	11397	1078	38	1		1	P2RY8	23	1585098	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	340	1585098	153685462	21191	31508											
SFRS17A	8227	broad.mit.edu	37	chrX	1712941	1712941	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccatgctggacccctacCgggaggagatgacgggccgc	14	15	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1712941C>T	ENST00000313871.3	+	2	782	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R196W	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	196	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGACCCCTACCGGGAGGAGAT	0.597																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(586-588)Cgg>Tgg		A kinase (PRKA) anchor protein 17A			TRP/ARG	0,4406		0,0,2203	133	123	127		586	0.9	0.1	X		127	1,8591		0,1,4295	no	missense	AKAP17A	NM_005088.2	101	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	196/696	1712941	1,12997	2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712941C>T	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.586C>T	X.37:g.1712941C>T	ENSP00000324827:p.Arg196Trp					AKAP17A_ENST00000381261.3_Missense_Mutation_p.R196W	p.R196W	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN			2	782	+			196			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.586C>T	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	8.625	0.892372	0.17613	0.0	1.16E-4	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.35973	1.28;1.28	2.04	0.936	0.19488	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.64402	U	0.000004	T	0.53465	0.1798	.	.	.	0.38765	D	0.954426	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.58476	-0.7630	9	0.87932	D	0	.	7.9728	0.30138	0.5008:0.4992:0.0:0.0	.	196;196	Q02040-3;Q02040	.;AK17A_HUMAN	W	196	ENSP00000324827:R196W;ENSP00000370660:R196W	ENSP00000324827:R196W	R	+	1	2	AKAP17A	1672941	1.000000	0.71417	0.090000	0.20809	0.233000	0.25261	0.916000	0.28651	0.822000	0.34565	0.100000	0.15512	CGG		0.597	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		114	508	0	0	0	1	0	114	508					T	1712941	C	T	1712941	3	4	79	1	0	0	0	0	1	0	0	0	14223	643	23	1	588	1	SFRS17A	23	1712941	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	127843	1712941	153557619	21192	31509											
ASMT	438	broad.mit.edu	37	chrX	1746651	1746651	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgctgaagagctttttAcggccatctacaggtaacac	8	12	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1746651A>C	ENST00000381229.4	+	4	466	c.430A>C	c.(430-432)Acg>Ccg	p.T144P	ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381241.3_Missense_Mutation_p.T144P|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	144					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)	AGAGCTTTTTACGGCCATCTA	0.393																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(430-432)Acg>Ccg		acetylserotonin O-methyltransferase							269	254	259					X																	1746651		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1746651A>C	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.430A>C	X.37:g.1746651A>C	ENSP00000370627:p.Thr144Pro					ASMT_ENST00000381229.4_Missense_Mutation_p.T144P|ASMT_ENST00000381233.3_Missense_Mutation_p.T144P|RP13-297E16.3_ENST00000509780.1_RNA	p.T144P	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			4	629	+		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)	144					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.430A>C		.	.	.	.	.	.	.	.	.	.	N	5.564	0.288915	0.10513	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.18016	2.24;2.24;2.24	1.48	-0.465	0.12157	.	1.013810	0.07922	U	0.976093	T	0.16811	0.0404	L	0.54323	1.7	0.09310	N	0.999999	P;P	0.40250	0.49;0.709	B;B	0.41236	0.124;0.351	T	0.29119	-1.0022	10	0.46703	T	0.11	.	4.4792	0.11759	0.489:0.0:0.511:0.0	.	144;144	P46597-2;P46597-3	.;.	P	144	ENSP00000370639:T144P;ENSP00000370627:T144P;ENSP00000370631:T144P	ENSP00000370627:T144P	T	+	1	0	ASMT	1706651	0.011000	0.17503	0.006000	0.13384	0.106000	0.19336	0.774000	0.26675	0.399000	0.25367	0.206000	0.17768	ACG		0.393	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		204	608	0	0	0	1	0	204	608					C	1746651	A	C	1746651	3	2	79	1	0	0	0	0	1	0	0	0	1046	391	14	4	444	4	ASMT	23	1746651	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	33710	1746651	153523909	21193	31510											
DHRSX	207063	broad.mit.edu	37	chrX	2139202	2139202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcgttgtataggtaatgGccaccaactccttccagctc	7	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2139202G>A	ENST00000334651.5	-	7	925	c.873C>T	c.(871-873)ggC>ggT	p.G291G		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	291							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)				ATAGGTAATGGCCACCAACTC	0.532																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(871-873)ggC>ggT		dehydrogenase/reductase (SDR family) X-linked							269	236	247					X																	2139202		2203	4296	6499	SO:0001819	synonymous_variant	207063						binding|oxidoreductase activity	g.chrX:2139202G>A	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.873C>T	X.37:g.2139202G>A							p.G291G	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN			7	925	-		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)	291					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Silent	SNP	ENST00000334651.5	37	c.873C>T	CCDS35195.1																																																																																				0.532	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		94	286	0	0	0	1	0	94	286					A	2139202	G	A	2139202	2	1	79	1	0	0	0	0	0	0	0	1	4515	1190	42	2		2	DHRSX	23	2139202	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	392551	2139202	153131358	21194	31511											
ZBED1	9189	broad.mit.edu	37	chrX	2406797	2406797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctcgggttccgcctctGccccactccgggcgttctca	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406797G>A	ENST00000381223.4	-	2	2167	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V|ZBED1_ENST00000515319.1_Intron	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	655					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)				TTCCGCCTCTGCCCCACTCCG	0.657																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1963-1965)gCa>gTa		zinc finger, BED-type containing 1							109	112	111					X																	2406797		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406797G>A	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.1964C>T	X.37:g.2406797G>A	ENSP00000370621:p.Ala655Val					RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.A655V|ZBED1_ENST00000381222.2_Missense_Mutation_p.A655V|DHRSX_ENST00000334651.5_Intron	p.A655V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2167	-		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)	655					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1964C>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	3.572	-0.087486	0.07097	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	.	.	.	3.06	2.16	0.27623	Ribonuclease H-like (1);	0.670871	0.11924	U	0.516364	T	0.28333	0.0700	.	.	.	0.09310	N	0.999999	B	0.27498	0.18	B	0.18871	0.023	T	0.11991	-1.0565	8	0.28530	T	0.3	.	11.3878	0.49796	0.0:0.1813:0.8187:0.0	.	655	O96006	ZBED1_HUMAN	V	655	.	ENSP00000370616:A655V	A	-	2	0	ZBED1	2416797	0.320000	0.24616	0.003000	0.11579	0.015000	0.08874	2.377000	0.44300	0.193000	0.20303	0.519000	0.50382	GCA		0.657	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		185	528	0	0	0	1	0	185	528					A	2406797	G	A	2406797	3	1	79	1	0	0	0	0	1	0	0	0	17571	1319	46	2	124	2	ZBED1	23	2406797	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	267595	2406797	152863763	21195	31512											
ZBED1	9189	broad.mit.edu	37	chrX	2406917	2406917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagacgctcaggggcgacgCgcgtggccgtcacgcaccag	16	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406917C>T	ENST00000381223.4	-	2	2047	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|ZBED1_ENST00000515319.1_5'UTR	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	615					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)				AGGGGCGACGCGCGTGGCCGT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		17210	0.0		0.0	False		,,,				2504	0.001					ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1843-1845)cGc>cAc		zinc finger, BED-type containing 1							120	120	120					X																	2406917		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2406917C>T	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.1844G>A	X.37:g.2406917C>T	ENSP00000370621:p.Arg615His					RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381218.3_Missense_Mutation_p.R615H|ZBED1_ENST00000381222.2_Missense_Mutation_p.R615H|DHRSX_ENST00000334651.5_Intron	p.R615H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	2047	-		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)	615					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.1844G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211017	0.39102	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.22336	1.96;1.96;1.96	3.06	3.06	0.35304	HAT dimerisation (1);Ribonuclease H-like (1);	0.371038	0.23307	N	0.049612	T	0.41880	0.1178	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64144	0.922	T	0.27020	-1.0086	9	0.72032	D	0.01	.	13.6519	0.62316	0.0:1.0:0.0:0.0	.	615	O96006	ZBED1_HUMAN	H	615	ENSP00000370621:R615H;ENSP00000370620:R615H;ENSP00000370616:R615H	ENSP00000370616:R615H	R	-	2	0	ZBED1	2416917	0.964000	0.33143	0.141000	0.22245	0.139000	0.21198	5.063000	0.64332	1.155000	0.42497	0.519000	0.50382	CGC		0.662	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		217	711	0	0	0	1	0	217	711					T	2406917	C	T	2406917	3	4	79	1	0	0	0	0	1	0	0	0	17571	768	27	1	244	1	ZBED1	23	2406917	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	2406917	152863643	21196	31513											
ZBED1	9189	broad.mit.edu	37	chrX	2407814	2407814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtactccaccagtttgCggcagcgcgacagcagcgcc	13	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2407814C>T	ENST00000381223.4	-	2	1150	c.947G>A	c.(946-948)cGc>cAc	p.R316H	ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H|ZBED1_ENST00000515319.1_5'Flank	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	316					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)				CACCAGTTTGCGGCAGCGCGA	0.622																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(946-948)cGc>cAc		zinc finger, BED-type containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG,	0,4406		0,0,2203	64	60	61		947,947,947,	3.1	0	X		61	1,8591		0,1,4295	no	missense,missense,missense,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	29,29,29,	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,	316/695,316/695,316/695,	2407814	1,12997	2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407814C>T	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.947G>A	X.37:g.2407814C>T	ENSP00000370621:p.Arg316His					ZBED1_ENST00000381218.3_Missense_Mutation_p.R316H|ZBED1_ENST00000381222.2_Missense_Mutation_p.R316H|DHRSX_ENST00000334651.5_Intron	p.R316H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1150	-		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)	316					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.947G>A	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.991842	0.35131	0.0	1.16E-4	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.28666	1.6;1.6;1.6	3.06	3.06	0.35304	Ribonuclease H-like (1);	0.447401	0.19468	N	0.113536	T	0.52709	0.1751	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.44847	-0.9301	9	0.52906	T	0.07	-15.8715	13.6519	0.62316	0.0:1.0:0.0:0.0	.	316	O96006	ZBED1_HUMAN	H	316	ENSP00000370621:R316H;ENSP00000370620:R316H;ENSP00000370616:R316H	ENSP00000370616:R316H	R	-	2	0	ZBED1	2417814	0.999000	0.42202	0.022000	0.16811	0.013000	0.08279	5.371000	0.66150	1.155000	0.42497	0.519000	0.50382	CGC		0.622	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		78	246	0	0	0	1	0	78	246					T	2407814	C	T	2407814	3	4	79	1	0	0	0	0	1	0	0	0	17571	768	27	1	1141	1	ZBED1	23	2407814	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	897	2407814	152862746	21197	31514											
ZBED1	9189	broad.mit.edu	37	chrX	2408449	2408449	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgcgtcctgcccgggCtgctgggacgactcgggctt	16	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2408449C>A	ENST00000381223.4	-	2	515	c.312G>T	c.(310-312)caG>caT	p.Q104H	ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H|ZBED1_ENST00000515319.1_5'Flank	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	104					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)				CCTGCCCGGGCTGCTGGGACG	0.667																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(310-312)caG>caT		zinc finger, BED-type containing 1							79	77	78					X																	2408449		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408449C>A	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.312G>T	X.37:g.2408449C>A	ENSP00000370621:p.Gln104His					ZBED1_ENST00000381218.3_Missense_Mutation_p.Q104H|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q104H|DHRSX_ENST00000334651.5_Intron	p.Q104H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	515	-		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)	104					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.312G>T	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.158378	0.00321	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.62	1.71	0.24356	.	5.059470	0.01243	U	0.008673	T	0.27933	0.0688	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10337	-1.0634	8	0.27082	T	0.32	-6.024	3.0642	0.06209	0.0:0.4398:0.2263:0.3339	.	104	O96006	ZBED1_HUMAN	H	104	.	ENSP00000370616:Q104H	Q	-	3	2	ZBED1	2418449	0.372000	0.25064	0.003000	0.11579	0.112000	0.19704	0.935000	0.28924	0.150000	0.19136	0.425000	0.28330	CAG		0.667	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		44	396	1	0	8.20599e-20	1	9.16906e-20	44	396					A	2408449	C	A	2408449	3	1	79	1	0	0	0	0	1	0	0	0	17571	796	28	3	1776	3	ZBED1	23	2408449	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	635	2408449	152862111	21198	31515											
XG	7499	broad.mit.edu	37	chrX	2707735	2707735	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccccagcctggcaattccGgcaacagtggaggtaatgag	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2707735G>T	ENST00000381174.5	+	5	466	c.241G>T	c.(241-243)Ggc>Tgc	p.G81C	XG_ENST00000419513.2_Missense_Mutation_p.G81C|XG_ENST00000426774.1_Missense_Mutation_p.G81C			P55808	XG_HUMAN	Xg blood group	81						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGCAATTCCGGCAACAGTGG	0.303																																						ENST00000426774.1																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(241-243)Ggc>Tgc		Xg blood group							32	28	29					X																	2707735		2196	4286	6482	SO:0001583	missense	7499					integral to membrane|plasma membrane		g.chrX:2707735G>T	AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.241G>T	X.37:g.2707735G>T	ENSP00000370566:p.Gly81Cys					XG_ENST00000381174.5_Missense_Mutation_p.G81C|XG_ENST00000419513.2_Missense_Mutation_p.G81C	p.G81C	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN			5	464	+		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)	81					E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	ENST00000381174.5	37	c.241G>T	CCDS14120.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270714	0.23221	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	2.26	1.37	0.22104	.	0.356545	0.23780	U	0.044625	T	0.29817	0.0745	L	0.49778	1.585	0.09310	N	1	D;D	0.57571	0.98;0.975	P;P	0.55923	0.787;0.681	T	0.07888	-1.0749	10	0.35671	T	0.21	.	4.6521	0.12599	0.2032:0.0:0.7968:0.0	.	81;81	P55808;P55808-3	XG_HUMAN;.	C	81;81;81;59	ENSP00000370566:G81C;ENSP00000411004:G81C;ENSP00000398503:G81C;ENSP00000430005:G59C	ENSP00000370566:G81C	G	+	1	0	XG	2717735	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.121000	0.15667	0.213000	0.20722	-0.192000	0.12808	GGC		0.303	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055633.2	NM_175569		4	22	1	0	0.00024832	1	0.000252053	4	22					T	2707735	G	T	2707735	3	4	79	1	0	0	0	0	1	0	0	0	17481	1116	39	3	259	3	XG	23	2707735	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	299286	2707735	152562825	21199	31516											
ARSE	415	broad.mit.edu	37	chrX	2861177	2861177	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctagggaaccgccgtgatccGacgtaaaataaatgagggtg	13	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2861177G>A	ENST00000381134.3	-	8	1121	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	ARSE_ENST00000545496.1_Missense_Mutation_p.S377L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	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)				GCCGTGATCCGACGTAAAATA	0.473																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1129-1131)tCg>tTg		arylsulfatase E (chondrodysplasia punctata 1)							83	76	79					X																	2861177		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2861177G>A	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.1055C>T	X.37:g.2861177G>A	ENSP00000370526:p.Ser352Leu					ARSE_ENST00000381134.3_Missense_Mutation_p.S352L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L	p.S377L			P51690	ARSE_HUMAN			9	1421	-		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)	352					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.1130C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008822	0.75046	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.96619	-4.07;-4.07;-4.07	3.66	3.66	0.41972	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.99855	4.85	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.992	D	0.98419	1.0576	10	0.87932	D	0	.	14.0326	0.64624	0.0:0.0:1.0:0.0	.	307;377;352	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	L	307;377;352	ENSP00000438198:S307L;ENSP00000441417:S377L;ENSP00000370526:S352L	ENSP00000370526:S352L	S	-	2	0	ARSE	2871177	1.000000	0.71417	0.012000	0.15200	0.002000	0.02628	7.542000	0.82095	1.608000	0.50180	0.600000	0.82982	TCG		0.473	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		61	181	0	0	0	1	0	61	181					A	2861177	G	A	2861177	3	1	79	1	0	0	0	0	1	0	0	0	991	1059	37	1	730	1	ARSE	23	2861177	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	153442	2861177	152409383	21200	31517											
ARSH	347527	broad.mit.edu	37	chrX	2933300	2933300	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcctttctgtttttcacttcCtggtactctagttatggatt	7	9	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2933300C>A	ENST00000381130.2	+	4	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	210					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(628-630)tcC>tcA		arylsulfatase family, member H							189	126	148					X																	2933300		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933300C>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.630C>A	X.37:g.2933300C>A							p.S210S	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			4	630	+		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)	210						Silent	SNP	ENST00000381130.2	37	c.630C>A	CCDS35198.1																																																																																				0.453	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		56	127	1	0	8.44121e-28	1	9.79253e-28	56	127					A	2933300	C	A	2933300	2	1	79	1	0	0	0	0	0	0	0	1	994	668	24	3		3	ARSH	23	2933300	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72123	2933300	152337260	21201	31518											
ARSH	347527	broad.mit.edu	37	chrX	2945456	2945456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgatcaatgagcccaccaGcttaatggacatctatccga	8	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2945456G>T	ENST00000381130.2	+	7	1139	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	380					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAGCCCACCAGCTTAATGGAC	0.522																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(1138-1140)aGc>aTc		arylsulfatase family, member H							179	136	150					X																	2945456		2203	4300	6503	SO:0001583	missense	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2945456G>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"Arylsulfatase family"	32488	protein-coding gene	gene with protein product		300586	"arylsulfatase H"			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1139G>T	X.37:g.2945456G>T	ENSP00000370522:p.Ser380Ile						p.S380I	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			7	1139	+		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)	380						Missense_Mutation	SNP	ENST00000381130.2	37	c.1139G>T	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.349061	0.41599	.	.	ENSG00000205667	ENST00000381130	D	0.99194	-5.54	3.4	3.4	0.38934	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.99118	0.9696	M	0.78456	2.415	0.47994	D	0.99956	D	0.89917	1.0	D	0.97110	1.0	D	0.99334	1.0910	10	0.66056	D	0.02	.	14.2922	0.66286	0.0:0.0:1.0:0.0	.	380	Q5FYA8	ARSH_HUMAN	I	380	ENSP00000370522:S380I	ENSP00000370522:S380I	S	+	2	0	ARSH	2955456	1.000000	0.71417	0.009000	0.14445	0.010000	0.07245	7.968000	0.87980	1.328000	0.45358	0.596000	0.82720	AGC		0.522	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		47	297	1	0	1.19451e-25	1	1.37202e-25	47	297					T	2945456	G	T	2945456	3	4	79	1	0	0	0	0	1	0	0	0	994	971	34	3	1165	3	ARSH	23	2945456	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12156	2945456	152325104	21202	31519											
ARSF	416	broad.mit.edu	37	chrX	3030396	3030396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgacacctgccacagaGcccctccatgattttgtgat	7	16	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3030396G>A	ENST00000381127.1	+	11	1793	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	ARSF_ENST00000359361.2_Silent_p.E524E|ARSF_ENST00000537104.1_Silent_p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	524					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)				CTGCCACAGAGCCCCTCCATG	0.542																																						ENST00000381127.1																			0				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						c.(1570-1572)gaG>gaA		arylsulfatase F							91	81	84					X																	3030396		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3030396G>A	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.1572G>A	X.37:g.3030396G>A						ARSF_ENST00000359361.2_Silent_p.E524E|ARSF_ENST00000537104.1_Silent_p.E524E	p.E524E	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			11	1793	+		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)	524					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.1572G>A	CCDS14123.1																																																																																				0.542	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			31	493	0	0	0	1	0	31	493					A	3030396	G	A	3030396	2	1	79	1	0	0	0	0	0	0	0	1	992	962	34	2		2	ARSF	23	3030396	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	84940	3030396	152240164	21203	31520											
MXRA5	25878	broad.mit.edu	37	chrX	3235453	3235453	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaggaactgcgaggggCggatctgggtaccgtccccg	18	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3235453C>T	ENST00000217939.6	-	6	6423	c.6269G>A	c.(6268-6270)cGc>cAc	p.R2090H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2090	Ig-like C2-type 5.					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)				CTGCGAGGGGCGGATCTGGGT	0.652																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6268-6270)cGc>cAc		matrix-remodelling associated 5							34	30	31					X																	3235453		2199	4294	6493	SO:0001583	missense	25878					extracellular region		g.chrX:3235453C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6269G>A	X.37:g.3235453C>T	ENSP00000217939:p.Arg2090His						p.R2090H	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			6	6423	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2090			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6269G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	10.34	1.322750	0.23994	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68331	-0.32	3.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36815	U	0.002392	T	0.65995	0.2745	L	0.28014	0.82	0.09310	N	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60058	-0.7337	10	0.56958	D	0.05	.	11.8444	0.52376	0.1766:0.8234:0.0:0.0	.	2090	Q9NR99	MXRA5_HUMAN	H	2090	ENSP00000217939:R2090H	ENSP00000217939:R2090H	R	-	2	0	MXRA5	3245453	0.911000	0.30947	0.008000	0.14137	0.065000	0.16274	2.716000	0.47219	0.386000	0.24997	0.597000	0.82753	CGC		0.652	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		22	66	0	0	0	1	0	22	66					T	3235453	C	T	3235453	3	4	79	1	0	0	0	0	1	0	0	0	10044	768	27	1	2225	1	MXRA5	23	3235453	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	205057	3235453	152035107	21204	31521											
MXRA5	25878	broad.mit.edu	37	chrX	3240577	3240577	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taatcagtaaggtgtcttgaGtgcttagactacttttcaca	8	7	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3240577G>T	ENST00000217939.6	-	5	3303	c.3149C>A	c.(3148-3150)aCt>aAt	p.T1050N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1050						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)				GGTGTCTTGAGTGCTTAGACT	0.443																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3148-3150)aCt>aAt		matrix-remodelling associated 5							175	153	160					X																	3240577		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240577G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3149C>A	X.37:g.3240577G>T	ENSP00000217939:p.Thr1050Asn						p.T1050N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	3303	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1050					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3149C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.939047	0.34189	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.68181	-0.31	3.29	3.29	0.37713	.	0.381301	0.18935	U	0.127103	T	0.55689	0.1936	L	0.32530	0.975	0.09310	N	1	P	0.50528	0.936	P	0.45343	0.477	T	0.51466	-0.8702	10	0.72032	D	0.01	.	7.2354	0.26067	0.2147:0.0:0.7853:0.0	.	1050	Q9NR99	MXRA5_HUMAN	N	1050	ENSP00000217939:T1050N	ENSP00000217939:T1050N	T	-	2	0	MXRA5	3250577	0.001000	0.12720	0.020000	0.16555	0.052000	0.14988	0.470000	0.22084	1.440000	0.47531	0.522000	0.50473	ACT		0.443	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		116	487	1	0	7.80801e-58	1	9.78215e-58	116	487					T	3240577	G	T	3240577	3	4	79	1	0	0	0	0	1	0	0	0	10044	1029	36	3	5349	3	MXRA5	23	3240577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5124	3240577	152029983	21205	31522											
MXRA5	25878	broad.mit.edu	37	chrX	3241106	3241106	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttacttcaggttcaacaaGaataactccattgtggttgt	8	7	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3241106G>T	ENST00000217939.6	-	5	2774	c.2620C>A	c.(2620-2622)Ctt>Att	p.L874I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	874						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)				GGTTCAACAAGAATAACTCCA	0.473																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(2620-2622)Ctt>Att		matrix-remodelling associated 5							101	86	91					X																	3241106		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241106G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2620C>A	X.37:g.3241106G>T	ENSP00000217939:p.Leu874Ile						p.L874I	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2774	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	874					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2620C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	8.253	0.809339	0.16537	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66638	-0.22	3.63	-2.77	0.05877	.	2.650130	0.01890	U	0.038484	T	0.40839	0.1133	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.13282	-1.0515	10	0.23891	T	0.37	.	2.7632	0.05313	0.0895:0.2756:0.3498:0.2851	.	874	Q9NR99	MXRA5_HUMAN	I	874	ENSP00000217939:L874I	ENSP00000217939:L874I	L	-	1	0	MXRA5	3251106	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.049000	0.03514	-0.353000	0.08224	-0.353000	0.07706	CTT		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	393	1	0	5.26018e-13	1	5.6673e-13	20	393					T	3241106	G	T	3241106	3	4	79	1	0	0	0	0	1	0	0	0	10044	942	33	3	5878	3	MXRA5	23	3241106	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	529	3241106	152029454	21206	31523											
MXRA5	25878	broad.mit.edu	37	chrX	3242815	3242815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttctccaggatgagctggCtgccaccatcctcttcctgt	8	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3242815C>A	ENST00000217939.6	-	5	1065	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	304						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)				GATGAGCTGGCTGCCACCATC	0.507																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(910-912)aGc>aTc		matrix-remodelling associated 5							108	90	96					X																	3242815		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242815C>A	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.911G>T	X.37:g.3242815C>A	ENSP00000217939:p.Ser304Ile						p.S304I	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1065	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	304					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.911G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.064	-1.216203	0.01542	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.08	-3.76	0.04359	.	0.975648	0.08345	U	0.960274	T	0.36303	0.0962	N	0.19112	0.55	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.11060	-1.0603	10	0.22109	T	0.4	.	0.9037	0.01280	0.1445:0.2477:0.2838:0.324	.	304	Q9NR99	MXRA5_HUMAN	I	304	ENSP00000217939:S304I	ENSP00000217939:S304I	S	-	2	0	MXRA5	3252815	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.229000	0.02945	-1.964000	0.01012	-0.544000	0.04233	AGC		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	293	1	0	2.17888e-05	1	2.22852e-05	10	293					A	3242815	C	A	3242815	3	1	79	1	0	0	0	0	1	0	0	0	10044	797	28	3	7587	3	MXRA5	23	3242815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1709	3242815	152027745	21207	31524											
MXRA5	25878	broad.mit.edu	37	chrX	3248806	3248806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctgacagggcctgtatgCtattaaacctaaagaatggt	9	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3248806C>T	ENST00000217939.6	-	3	351	c.197G>A	c.(196-198)aGc>aAc	p.S66N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	66						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)				GGCCTGTATGCTATTAAACCT	0.373																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(196-198)aGc>aAc		matrix-remodelling associated 5							66	54	59					X																	3248806		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3248806C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.197G>A	X.37:g.3248806C>T	ENSP00000217939:p.Ser66Asn						p.S66N	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			3	351	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	66					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.197G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619827	0.46736	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02323	4.34	3.81	2.94	0.34122	.	0.000000	0.43747	U	0.000527	T	0.04907	0.0132	N	0.10733	0.035	0.24320	N	0.995049	D	0.76494	0.999	D	0.72338	0.977	T	0.33979	-0.9847	10	0.87932	D	0	.	11.0229	0.47728	0.0:0.9039:0.0:0.0961	.	66	Q9NR99	MXRA5_HUMAN	N	66	ENSP00000217939:S66N	ENSP00000217939:S66N	S	-	2	0	MXRA5	3258806	0.994000	0.37717	0.034000	0.17996	0.737000	0.42083	2.643000	0.46604	0.589000	0.29677	0.509000	0.49947	AGC		0.373	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		28	100	0	0	0	1	0	28	100					T	3248806	C	T	3248806	3	4	79	1	0	0	0	0	1	0	0	0	10044	797	28	2	8309	2	MXRA5	23	3248806	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5991	3248806	152021754	21208	31525											
MXRA5	25878	broad.mit.edu	37	chrX	3261761	3261761	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatcggaacgtgcagtggacCtcgctggggacgtagcaggc	17	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3261761C>A	ENST00000217939.6	-	2	268	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	38	LRRNT.					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)				TGCAGTGGACCTCGCTGGGGA	0.617																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(112-114)gaG>gaT		matrix-remodelling associated 5							58	41	46					X																	3261761		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3261761C>A	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.114G>T	X.37:g.3261761C>A	ENSP00000217939:p.Glu38Asp						p.E38D	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			2	268	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	38			LRRNT.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.114G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266769	0.59540	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.02606	4.23	3.17	-0.504	0.11997	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.38436	U	0.001690	T	0.07234	0.0183	L	0.41632	1.29	0.24000	N	0.996212	D	0.76494	0.999	D	0.73708	0.981	T	0.08046	-1.0741	10	0.72032	D	0.01	.	9.8629	0.41125	0.0:0.523:0.0:0.477	.	38	Q9NR99	MXRA5_HUMAN	D	38	ENSP00000217939:E38D	ENSP00000217939:E38D	E	-	3	2	MXRA5	3271761	0.981000	0.34729	0.993000	0.49108	0.783000	0.44284	0.003000	0.13083	-0.114000	0.11936	0.506000	0.49869	GAG		0.617	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		44	136	1	0	1.22674e-20	1	1.37621e-20	44	136					A	3261761	C	A	3261761	3	1	79	1	0	0	0	0	1	0	0	0	10044	680	24	3	8396	3	MXRA5	23	3261761	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	12955	3261761	152008799	21209	31526											
STS	412	broad.mit.edu	37	chrX	7252125	7252125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaacgcctacttaaatgCtgtgcgctggcaccctcaga	9	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:7252125C>A	ENST00000217961.4	+	9	1575	c.1355C>A	c.(1354-1356)gCt>gAt	p.A452D		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	452					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TACTTAAATGCTGTGCGCTGG	0.478									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1354-1356)gCt>gAt		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						138	115	123					X																	7252125		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7252125C>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1355C>A	X.37:g.7252125C>A	ENSP00000217961:p.Ala452Asp						p.A452D	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			9	1575	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	452					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1355C>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508259	0.85282	.	.	ENSG00000101846	ENST00000217961	D	0.97256	-4.31	3.95	3.95	0.45737	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.97758	4.07	0.53688	D	0.999974	D	0.76494	0.999	D	0.75484	0.986	D	0.99164	1.0862	10	0.87932	D	0	.	12.8957	0.58098	0.0:1.0:0.0:0.0	.	452	P08842	STS_HUMAN	D	452	ENSP00000217961:A452D	ENSP00000217961:A452D	A	+	2	0	STS	7262125	1.000000	0.71417	0.777000	0.31699	0.960000	0.62799	6.102000	0.71486	1.586000	0.49944	0.513000	0.50165	GCT		0.478	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		108	325	1	0	1.15365e-47	1	1.42094e-47	108	325					A	7252125	C	A	7252125	3	1	79	1	0	0	0	0	1	0	0	0	15384	797	28	3	1389	3	STS	23	7252125	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3990364	7252125	148018435	21210	31527											
VCX3B	425054	broad.mit.edu	37	chrX	8433520	8433520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagccgagagcctcgggacCtccggccaaggccaaggagg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8433520C>A	ENST00000381032.1	+	2	336	c.29C>A	c.(28-30)cCt>cAt	p.P10H	VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	10						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCTCGGGACCTCCGGCCAAG	0.607																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(28-30)cCt>cAt		variable charge, X-linked 3B							74	46	56					X																	8433520		1381	2319	3700	SO:0001583	missense	0					nucleolus		g.chrX:8433520C>A		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.29C>A	X.37:g.8433520C>A	ENSP00000370420:p.Pro10His					VCX3B_ENST00000453306.1_Missense_Mutation_p.P10H|VCX3B_ENST00000381029.4_Missense_Mutation_p.P10H|VCX3B_ENST00000440654.2_Missense_Mutation_p.P10H|VCX3B_ENST00000444481.1_Missense_Mutation_p.P10H	p.P10H	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			2	336	+			10					C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.29C>A	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082777	0.08533	.	.	ENSG00000205642	ENST00000381032;ENST00000453306;ENST00000444481;ENST00000440654;ENST00000381029	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	0.421	-0.563	0.11778	.	.	.	.	.	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	D;D	0.53462	0.96;0.96	B;B	0.41299	0.353;0.353	T	0.14392	-1.0474	8	0.72032	D	0.01	.	.	.	.	.	10;10	Q9H321;E7ERZ8	VCX3B_HUMAN;.	H	10	ENSP00000370420:P10H;ENSP00000411785:P10H;ENSP00000414780:P10H;ENSP00000410372:P10H;ENSP00000370417:P10H	ENSP00000370417:P10H	P	+	2	0	VCX3B	8393520	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.021000	0.30040	-0.438000	0.07232	-0.435000	0.05868	CCT		0.607	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			22	974	1	0	1.78486e-19	1	1.99151e-19	22	974					A	8433520	C	A	8433520	3	1	79	1	0	0	0	0	1	0	0	0	17199	681	24	3	31	3	VCX3B	23	8433520	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1181395	8433520	146837040	21211	31528											
VCX3B	425054	broad.mit.edu	37	chrX	8434386	8434386	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgagatggaagaaccactgAgtcaggagagcgagatggaa	16	6	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8434386A>G	ENST00000381032.1	+	3	1010	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	235	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAACCACTGAGTCAGGAGAG	0.567																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(703-705)Agt>Ggt		variable charge, X-linked 3B							85	219	173					X																	8434386		2160	4193	6353	SO:0001583	missense	0					nucleolus		g.chrX:8434386A>G		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.703A>G	X.37:g.8434386A>G	ENSP00000370420:p.Ser235Gly					VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000381029.4_Missense_Mutation_p.S203G|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.S205G	p.S235G	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			3	1010	+			81					C9JS46|Q4KN12	Missense_Mutation	SNP	ENST00000381032.1	37	c.703A>G	CCDS48077.2	.	.	.	.	.	.	.	.	.	.	N	7.916	0.737629	0.15574	.	.	ENSG00000205642	ENST00000381032;ENST00000444481;ENST00000381029	T;T;T	0.18502	2.21;2.21;2.21	0.601	-0.859	0.10685	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.09310	N	0.999998	B	0.10296	0.003	B	0.06405	0.002	T	0.35251	-0.9796	9	0.34782	T	0.22	.	3.9426	0.09334	0.7175:0.0:0.2825:0.0	.	205	Q9H321	VCX3B_HUMAN	G	235;205;203	ENSP00000370420:S235G;ENSP00000414780:S205G;ENSP00000370417:S203G	ENSP00000370417:S203G	S	+	1	0	VCX3B	8394386	0.005000	0.15991	0.006000	0.13384	0.028000	0.11728	0.093000	0.15086	-0.284000	0.09102	0.354000	0.21935	AGT		0.567	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			266	960	0	0	0	1	0	266	960					G	8434386	A	G	8434386	3	3	79	1	0	0	0	0	1	0	0	0	17199	304	11	4	623	4	VCX3B	23	8434386	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	866	8434386	146836174	21212	31529											
FAM9B	171483	broad.mit.edu	37	chrX	9000434	9000434	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctttccccatgctcatcagTtacatcttcctcccttgttt	3	15	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9000434T>C	ENST00000327220.5	-	3	461	c.97A>G	c.(97-99)Act>Gct	p.T33A	FAM9B_ENST00000362066.3_Missense_Mutation_p.T78A|FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	33						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TGCTCATCAGTTACATCTTCC	0.403																																						ENST00000362066.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(232-234)Act>Gct		family with sequence similarity 9, member B							252	208	223					X																	9000434		2203	4300	6503	SO:0001583	missense	171483					nucleus		g.chrX:9000434T>C		CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"testis expressed 39B"	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.97A>G	X.37:g.9000434T>C	ENSP00000318716:p.Thr33Ala					FAM9B_ENST00000428477.1_Missense_Mutation_p.T33A|FAM9B_ENST00000327220.5_Missense_Mutation_p.T33A	p.T78A			Q8IZU0	FAM9B_HUMAN			2	420	-		Hepatocellular(5;0.219)	33					Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	c.232A>G	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647061	0.29246	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	T	0.31295	0.0792	L	0.32530	0.975	0.09310	N	1	P;P	0.46578	0.88;0.88	P;P	0.50270	0.636;0.636	T	0.20472	-1.0274	7	0.20519	T	0.43	.	.	.	.	.	33;78	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	A	78;33;33	.	ENSP00000318716:T33A	T	-	1	0	FAM9B	8960434	0.110000	0.22057	0.246000	0.24233	0.246000	0.25737	1.087000	0.30865	0.238000	0.21222	0.235000	0.17854	ACT		0.403	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849		214	754	0	0	0	1	0	214	754					C	9000434	T	C	9000434	3	2	79	1	0	0	0	0	1	0	0	0	5685	1725	60	4	487	4	FAM9B	23	9000434	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	566048	9000434	146270126	21213	31530											
GPR143	4935	broad.mit.edu	37	chrX	9728834	9728834	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcaacaaaatttgggaAtcctaaccacacggtggacc	9	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9728834A>G	ENST00000467482.1	-	2	429	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L	GPR143_ENST00000380929.2_Missense_Mutation_p.F115L			P51810	GP143_HUMAN	G protein-coupled receptor 143	95					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAATTTGGGAATCCTAACCAC	0.473																																						ENST00000467482.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(283-285)Ttc>Ctc		G protein-coupled receptor 143							90	66	74					X																	9728834		2203	4296	6499	SO:0001583	missense	4935				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding	g.chrX:9728834A>G	Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"GPCR / Unclassified : 7TM orphan receptors"	20145	protein-coding gene	gene with protein product	"ocular albinism 1"	300808	"ocular albinism 1 (Nettleship-Falls)"	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.283T>C	X.37:g.9728834A>G	ENSP00000417161:p.Phe95Leu					GPR143_ENST00000380929.2_Missense_Mutation_p.F115L	p.F95L			P51810	GP143_HUMAN			2	429	-		Hepatocellular(5;0.000888)	95					Q6NTI7	Missense_Mutation	SNP	ENST00000467482.1	37	c.283T>C	CCDS14134.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.535|4.535	0.099280|0.099280	0.08681|0.08681	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99207|.	-5.56;-5.56;-5.56|.	4.47|4.47	3.28|3.28	0.37604|0.37604	.|.	0.318281|.	0.34484|.	N|.	0.003924|.	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.47716|0.47716	1.5|1.5	0.20307|0.20307	N|N	0.999918|0.999918	B|.	0.13145|.	0.007|.	B|.	0.16289|.	0.015|.	T|T	0.23084|0.23084	-1.0198|-1.0198	10|5	0.08599|.	T|.	0.76|.	-5.3468|-5.3468	8.229|8.229	0.31587|0.31587	0.8989:0.0:0.1011:0.0|0.8989:0.0:0.1011:0.0	.|.	95|.	P51810|.	GP143_HUMAN|.	L|T	95;115;11|30	ENSP00000417161:F95L;ENSP00000370316:F115L;ENSP00000406138:F11L|.	ENSP00000370316:F115L|.	F|I	-|-	1|2	0|0	GPR143|GPR143	9688834|9688834	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.019000|0.019000	0.09904|0.09904	3.591000|3.591000	0.53986|0.53986	0.427000|0.427000	0.26145|0.26145	0.380000|0.380000	0.24917|0.24917	TTC|ATT		0.473	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055714.2	NM_000273		8	34	0	0	0	1	0	8	34					G	9728834	A	G	9728834	3	3	79	1	0	0	0	0	1	0	0	0	6680	101	4	4	963	4	GPR143	23	9728834	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	728400	9728834	145541726	21214	31531											
SHROOM2	357	broad.mit.edu	37	chrX	9863881	9863881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccaagctgcagaagagcCggagcacagtggctctgact	14	11	1	3	rs374898048		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9863881C>T	ENST00000380913.3	+	4	2023	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	645					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)				GCAGAAGAGCCGGAGCACAGT	0.667																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(1933-1935)Cgg>Tgg		shroom family member 2		C	TRP/ARG	0,3828		0,0,1630,568	15	16	16		1933	-0.7	0.1	X		16	1,6713		0,1,2424,1864	no	missense	SHROOM2	NM_001649.2	101	0,1,4054,2432	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	645/1617	9863881	1,10541	2198	4289	6487	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863881C>T	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.1933C>T	X.37:g.9863881C>T	ENSP00000370299:p.Arg645Trp						p.R645W	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			4	2023	+		Hepatocellular(5;0.000888)	645					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1933C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797175	0.31777	0.0	1.49E-4	ENSG00000146950	ENST00000380913	T	0.49139	0.79	5.04	-0.677	0.11357	Apx/shroom, ASD1 (1);	0.744958	0.12658	N	0.449893	T	0.61211	0.2329	L	0.59436	1.845	0.34755	D	0.732147	D	0.76494	0.999	D	0.65987	0.94	T	0.70916	-0.4742	10	0.87932	D	0	-8.1434	14.1036	0.65072	0.4572:0.5428:0.0:0.0	.	645	Q13796	SHRM2_HUMAN	W	645	ENSP00000370299:R645W	ENSP00000370299:R645W	R	+	1	2	SHROOM2	9823881	0.846000	0.29590	0.060000	0.19600	0.043000	0.13939	1.833000	0.39161	-0.131000	0.11578	-0.315000	0.08773	CGG		0.667	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		26	104	0	0	0	1	0	26	104					T	9863881	C	T	9863881	3	4	79	1	0	0	0	0	1	0	0	0	14344	643	23	1	1947	1	SHROOM2	23	9863881	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	135047	9863881	145406679	21215	31532											
SHROOM2	357	broad.mit.edu	37	chrX	9905433	9905433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagccggctgagccccagCccctgggcacccaggtgccc	12	21	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9905433C>T	ENST00000380913.3	+	7	3937	c.3847C>T	c.(3847-3849)Ccc>Tcc	p.P1283S	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1283					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)				TGAGCCCCAGCCCCTGGGCAC	0.642																																						ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(3847-3849)Ccc>Tcc		shroom family member 2							18	18	18					X																	9905433		2197	4297	6494	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9905433C>T	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.3847C>T	X.37:g.9905433C>T	ENSP00000370299:p.Pro1283Ser					SHROOM2_ENST00000418909.2_Missense_Mutation_p.P118S	p.P1283S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			7	3937	+		Hepatocellular(5;0.000888)	1283					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.3847C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	3.144	-0.175695	0.06421	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.43688	2.51;1.53;0.94	4.98	2.05	0.26809	.	1.337090	0.04799	N	0.433171	T	0.49830	0.1580	L	0.40543	1.245	0.09310	N	1	B;D	0.76494	0.004;0.999	B;D	0.63381	0.007;0.914	T	0.34329	-0.9833	10	0.22109	T	0.4	-4.5046	6.3194	0.21208	0.0:0.5636:0.2776:0.1588	.	118;1283	Q68DU3;Q13796	.;SHRM2_HUMAN	S	1283;118;118;118	ENSP00000370299:P1283S;ENSP00000415229:P118S;ENSP00000406724:P118S	ENSP00000370299:P1283S	P	+	1	0	SHROOM2	9865433	0.021000	0.18746	0.026000	0.17262	0.052000	0.14988	0.471000	0.22100	0.343000	0.23821	0.594000	0.82650	CCC		0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		37	101	0	0	0	1	0	37	101					T	9905433	C	T	9905433	3	4	79	1	0	0	0	0	1	0	0	0	14344	739	26	2	3873	2	SHROOM2	23	9905433	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	41552	9905433	145365127	21216	31533											
CLCN4	1183	broad.mit.edu	37	chrX	10180547	10180547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcatggctgtgggcgCgatagcgggcaggatggtgg	19	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10180547C>T	ENST00000380833.4	+	10	1821	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	477					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						GCTGTGGGCGCGATAGCGGGC	0.577																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1429-1431)gCg>gTg		chloride channel, voltage-sensitive 4							82	72	76					X																	10180547		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10180547C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1430C>T	X.37:g.10180547C>T	ENSP00000370213:p.Ala477Val					CLCN4_ENST00000380829.1_Missense_Mutation_p.A446V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A383V	p.A477V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			10	1821	+			477					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1430C>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326636	0.95708	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.97430	-4.38;-4.38;-4.38	5.46	5.46	0.80206	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	H	0.99425	4.56	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98425	1.0579	10	0.87932	D	0	-43.1916	18.4584	0.90729	0.0:1.0:0.0:0.0	.	477	P51793	CLCN4_HUMAN	V	477;446;383	ENSP00000370213:A477V;ENSP00000370209:A446V;ENSP00000405754:A383V	ENSP00000370209:A446V	A	+	2	0	CLCN4	10140547	1.000000	0.71417	0.327000	0.25402	0.947000	0.59692	7.663000	0.83820	2.301000	0.77427	0.513000	0.50165	GCG		0.577	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			86	372	0	0	0	1	0	86	372					T	10180547	C	T	10180547	3	4	79	1	0	0	0	0	1	0	0	0	3474	768	27	1	1460	1	CLCN4	23	10180547	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	275114	10180547	145090013	21217	31534											
MID1	4281	broad.mit.edu	37	chrX	10417463	10417463	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatagggagcccagtgataAtcgtcagacacttgttccac	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10417463A>C	ENST00000317552.4	-	10	2349	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000479925.1_5'Flank|MID1_ENST00000380785.1_Missense_Mutation_p.I650S|MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	650	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						CCCAGTGATAATCGTCAGACA	0.532																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1948-1950)aTt>aGt		midline 1 (Opitz/BBB syndrome)							86	70	76					X																	10417463		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10417463A>C	Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1949T>G	X.37:g.10417463A>C	ENSP00000312678:p.Ile650Ser					MID1_ENST00000380787.1_Missense_Mutation_p.I650S|MID1_ENST00000380780.1_Missense_Mutation_p.I650S|MID1_ENST00000453318.2_Missense_Mutation_p.I650S|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.I650S|MID1_ENST00000380785.1_Missense_Mutation_p.I650S	p.I650S	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			10	2349	-			650			B30.2/SPRY.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1949T>G	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857486	0.91433	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	M	0.80332	2.49	0.58432	D	0.999999	D;D;D	0.57899	0.981;0.981;0.961	P;P;D	0.64410	0.891;0.868;0.925	D	0.84339	0.0526	10	0.87932	D	0	.	14.7167	0.69275	1.0:0.0:0.0:0.0	.	650;650;600	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	S	650;650;650;650;650;650;600	ENSP00000414521:I650S;ENSP00000312678:I650S;ENSP00000370162:I650S;ENSP00000370156:I650S;ENSP00000370164:I650S;ENSP00000370157:I650S	ENSP00000312678:I650S	I	-	2	0	MID1	10377463	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	8.772000	0.91757	1.857000	0.53885	0.345000	0.21793	ATT		0.532	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			71	222	0	0	0	1	0	71	222					C	10417463	A	C	10417463	3	2	79	1	0	0	0	0	1	0	0	0	9617	101	4	4	58	4	MID1	23	10417463	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	236916	10417463	144853097	21218	31535											
MID1	4281	broad.mit.edu	37	chrX	10427733	10427733	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcggctgcccgcctggTtgatggccttgaccatgaag	14	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10427733T>A	ENST00000317552.4	-	8	1800	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.N467I|MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	467	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GCCCGCCTGGTTGATGGCCTT	0.517																																						ENST00000317552.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1399-1401)aAc>aTc		midline 1 (Opitz/BBB syndrome)							207	153	172					X																	10427733		2203	4300	6503	SO:0001583	missense	0				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chrX:10427733T>A	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.1400A>T	X.37:g.10427733T>A	ENSP00000312678:p.Asn467Ile					MID1_ENST00000380787.1_Missense_Mutation_p.N467I|MID1_ENST00000380780.1_Missense_Mutation_p.N467I|MID1_ENST00000453318.2_Missense_Mutation_p.N467I|MID1_ENST00000380782.2_Missense_Mutation_p.N467I|MID1_ENST00000479925.1_5'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.N467I|MID1_ENST00000380785.1_Missense_Mutation_p.N467I	p.N467I	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN			8	1800	-			467			Fibronectin type-III.		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	c.1400A>T	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641151	0.87859	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.34	5.34	0.76211	Fibronectin, type III (4);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70456	0.3226	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73953	-0.3820	10	0.72032	D	0.01	.	14.4277	0.67227	0.0:0.0:0.0:1.0	.	467;467;417	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	I	467;467;467;467;467;467;467;417;467	ENSP00000414521:N467I;ENSP00000312678:N467I;ENSP00000370162:N467I;ENSP00000370156:N467I;ENSP00000370164:N467I;ENSP00000370157:N467I;ENSP00000370159:N467I;ENSP00000391154:N467I	ENSP00000312678:N467I	N	-	2	0	MID1	10387733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	1.787000	0.52448	0.481000	0.45027	AAC		0.517	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			193	663	0	0	0	1	0	193	663					A	10427733	T	A	10427733	3	1	79	1	0	0	0	0	1	0	0	0	9617	1725	60	5	615	5	MID1	23	10427733	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	10270	10427733	144842827	21219	31536											
ARHGAP6	395	broad.mit.edu	37	chrX	11157333	11157333	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtggcccggctctgcaGcccggccacatccagctcac	12	17	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11157333G>T	ENST00000337414.4	-	13	3447	c.2575C>A	c.(2575-2577)Ctg>Atg	p.L859M	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	859					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						CGGCTCTGCAGCCCGGCCACA	0.706																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2575-2577)Ctg>Atg		Rho GTPase activating protein 6							9	9	9					X																	11157333		2167	4245	6412	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157333G>T	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2575C>A	X.37:g.11157333G>T	ENSP00000338967:p.Leu859Met					ARHGAP6_ENST00000303025.6_Missense_Mutation_p.L656M|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.L656M	p.L859M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			13	3447	-			859					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.2575C>A	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944809	0.34283	.	.	ENSG00000047648	ENST00000380736;ENST00000303025;ENST00000337414	T;T;T	0.24723	1.85;1.85;1.84	5.12	4.24	0.50183	.	1.112630	0.07024	N	0.827272	T	0.22437	0.0541	L	0.51422	1.61	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.34722	0.188;0.188	T	0.24119	-1.0169	10	0.45353	T	0.12	.	4.1956	0.10441	0.2167:0.0:0.5931:0.1901	.	859;859	O43182;A8KAL3	RHG06_HUMAN;.	M	656;656;859	ENSP00000370112:L656M;ENSP00000302312:L656M;ENSP00000338967:L859M	ENSP00000302312:L656M	L	-	1	2	ARHGAP6	11067254	0.088000	0.21588	0.626000	0.29213	0.025000	0.11179	1.709000	0.37909	2.116000	0.64780	0.594000	0.82650	CTG		0.706	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		20	69	1	0	3.99206e-14	1	4.32713e-14	20	69					T	11157333	G	T	11157333	3	4	79	1	0	0	0	0	1	0	0	0	887	962	34	3	353	3	ARHGAP6	23	11157333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	729600	11157333	144113227	21220	31537											
ARHGAP6	395	broad.mit.edu	37	chrX	11160378	11160378	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctgggtctttggatccGctttttaatgttgaatgcca	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11160378G>A	ENST00000337414.4	-	12	3104	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_ENST00000380736.1_Silent_p.S541S|ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000534860.1_Silent_p.S569S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	744					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)	p.S744S(1)		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						CTTTGGATCCGCTTTTTAATG	0.303													G|||	1	0.000264901	0.0	0.0	3775	,	,		12406	0.0		0.0	False		,,,				2504	0.001					ENST00000337414.4																			1	Substitution - coding silent(1)	p.S744S(1)	large_intestine(1)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2230-2232)agC>agT		Rho GTPase activating protein 6							104	102	103					X																	11160378		2203	4300	6503	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11160378G>A	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.2232C>T	X.37:g.11160378G>A						ARHGAP6_ENST00000303025.6_Silent_p.S541S|ARHGAP6_ENST00000534860.1_Silent_p.S569S|ARHGAP6_ENST00000380736.1_Silent_p.S541S	p.S744S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			12	3104	-			744					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.2232C>T	CCDS14140.1																																																																																				0.303	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		76	298	0	0	0	1	0	76	298					A	11160378	G	A	11160378	2	1	79	1	0	0	0	0	0	0	0	1	887	1078	38	1		1	ARHGAP6	23	11160378	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3045	11160378	144110182	21221	31538											
ARHGAP6	395	broad.mit.edu	37	chrX	11207077	11207077	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcaatgacttgggataagGgcattccaaatgcctgtggg	13	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11207077G>A	ENST00000337414.4	-	4	1720	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	283					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						TTGGGATAAGGGCATTCCAAA	0.458																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(847-849)cCc>cTc		Rho GTPase activating protein 6							81	66	71					X																	11207077		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11207077G>A	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.848C>T	X.37:g.11207077G>A	ENSP00000338967:p.Pro283Leu					ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P80L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.P108L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P80L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.P283L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.P315L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.P92L	p.P283L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			4	1720	-			283					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.848C>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370066	0.82573	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.33865	1.42;1.48;1.48;1.45;1.39;1.48;1.59;1.66	5.51	5.51	0.81932	Rho GTPase-activating protein domain (1);	0.000000	0.53938	D	0.000055	T	0.54447	0.1859	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.76494	0.994;0.987;0.998;0.997;0.999	P;P;D;P;D	0.66847	0.737;0.824;0.941;0.904;0.947	T	0.56269	-0.8007	10	0.72032	D	0.01	.	18.5172	0.90939	0.0:0.0:1.0:0.0	.	92;80;283;283;283	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	L	108;80;80;283;119;283;92;315	ENSP00000438135:P108L;ENSP00000370112:P80L;ENSP00000302312:P80L;ENSP00000338967:P283L;ENSP00000370093:P119L;ENSP00000370094:P283L;ENSP00000389394:P92L;ENSP00000370108:P315L	ENSP00000302312:P80L	P	-	2	0	ARHGAP6	11116998	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.315000	0.78130	0.600000	0.82982	CCC		0.458	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		18	259	0	0	0	1	0	18	259					A	11207077	G	A	11207077	3	1	79	1	0	0	0	0	1	0	0	0	887	1232	43	2	2238	2	ARHGAP6	23	11207077	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	46699	11207077	144063483	21222	31539											
MSL3	10943	broad.mit.edu	37	chrX	11783890	11783890	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccggggagagccagcGtgtactttgtgtttagtcag	15	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11783890G>A	ENST00000312196.4	+	9	1276				MSL3_ENST00000380693.3_Intron|MSL3_ENST00000337339.2_Missense_Mutation_p.V405M|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V405M(1)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GAGAGCCAGCGTGTACTTTGT	0.572																																						ENST00000337339.2																			1	Substitution - Missense(1)	p.V405M(1)	breast(1)	breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						c.(1213-1215)Gtg>Atg		male-specific lethal 3 homolog (Drosophila)							129	89	102					X																	11783890		2203	4300	6503	SO:0001627	intron_variant	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11783890G>A	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1171+42G>A	X.37:g.11783890G>A						MSL3_ENST00000380693.3_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000398527.2_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000312196.4_Intron	p.V405M	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN			9	1240	+			0					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.1213G>A	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	0.682	-0.797841	0.02862	.	.	ENSG00000005302	ENST00000337339	T	0.08282	3.11	2.6	-5.21	0.02815	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.39623	-0.9605	8	.	.	.	.	1.4471	0.02367	0.4259:0.2655:0.1792:0.1294	.	405	A6NHW8	.	M	405	ENSP00000338078:V405M	.	V	+	1	0	MSL3	11693811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.091000	0.00609	-2.620000	0.00440	-1.327000	0.01280	GTG		0.572	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		114	435	0	0	0	1	0	114	435					A	11783890	G	A	11783890	1	1	79	0	1	0	0	0	0	0	0	0	9920	1145	40	1		1	MSL3	23	11783890	Intron	SNP	G	TCGA-IB-7651-01A-11D-2154-08	576813	11783890	143486670	21223	31540											
FRMPD4	9758	broad.mit.edu	37	chrX	12725605	12725605	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcagaaaagcgctcGgaagtgactctcctggttgg	14	10	1	2	rs548107853		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12725605G>A	ENST00000380682.1	+	13	1811	c.1305G>A	c.(1303-1305)tcG>tcA	p.S435S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	435	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAAAGCGCTCGGAAGTGACTC	0.443																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(1303-1305)tcG>tcA		FERM and PDZ domain containing 4							95	94	94					X																	12725605		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12725605G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1305G>A	X.37:g.12725605G>A							p.S435S	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			13	1811	+			435			FERM.		A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.1305G>A	CCDS35201.1																																																																																				0.443	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		15	469	0	0	0	1	0	15	469					A	12725605	G	A	12725605	2	1	79	1	0	0	0	0	0	0	0	1	6086	1103	39	1		1	FRMPD4	23	12725605	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	941715	12725605	142544955	21224	31541											
FRMPD4	9758	broad.mit.edu	37	chrX	12735057	12735057	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaggactctcagagccagGcagcttccttccccgaggac	11	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12735057G>A	ENST00000380682.1	+	15	2985	c.2479G>A	c.(2479-2481)Gca>Aca	p.A827T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	827					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						TCAGAGCCAGGCAGCTTCCTT	0.562																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2479-2481)Gca>Aca		FERM and PDZ domain containing 4							105	86	92					X																	12735057		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735057G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2479G>A	X.37:g.12735057G>A	ENSP00000370057:p.Ala827Thr						p.A827T	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			15	2985	+			827					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2479G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751744	0.31046	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.32515	1.45	5.26	4.38	0.52667	.	0.390669	0.26769	N	0.022586	T	0.22437	0.0541	L	0.40543	1.245	0.29218	N	0.874119	B;B	0.18863	0.031;0.031	B;B	0.15870	0.014;0.01	T	0.06734	-1.0810	10	0.44086	T	0.13	.	6.6097	0.22745	0.1509:0.0:0.6928:0.1562	.	819;827	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	T	827;818;816	ENSP00000370057:A827T	ENSP00000304583:A816T	A	+	1	0	FRMPD4	12644978	1.000000	0.71417	0.978000	0.43139	0.980000	0.70556	2.658000	0.46733	2.334000	0.79466	0.600000	0.82982	GCA		0.562	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		105	323	0	0	0	1	0	105	323					A	12735057	G	A	12735057	3	1	79	1	0	0	0	0	1	0	0	0	6086	1203	42	2	2537	2	FRMPD4	23	12735057	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9452	12735057	142535503	21225	31542											
TLR8	51311	broad.mit.edu	37	chrX	12937820	12937820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacacgtgccacccaaactgCcaagctccctacgcaaactt	5	18	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12937820C>A	ENST00000218032.6	+	2	748	c.661C>A	c.(661-663)Cca>Aca	p.P221T	TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	221					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)	ACCCAAACTGCCAAGCTCCCT	0.368																																						ENST00000218032.6																			0				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						c.(661-663)Cca>Aca		toll-like receptor 8							64	69	67					X																	12937820		2203	4298	6501	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12937820C>A	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.661C>A	X.37:g.12937820C>A	ENSP00000218032:p.Pro221Thr					TLR8_ENST00000311912.5_Missense_Mutation_p.P239T	p.P221T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN			2	748	+			221					B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.661C>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044863	0.36085	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.00976	5.48;5.48	4.93	4.93	0.64822	.	0.000000	0.40469	N	0.001086	T	0.05868	0.0153	M	0.84511	2.7	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01238	-1.1409	10	0.87932	D	0	.	11.3276	0.49458	0.0:0.901:0.0:0.099	.	221;239	Q9NR97;D1CS70	TLR8_HUMAN;.	T	221;239	ENSP00000218032:P221T;ENSP00000312082:P239T	ENSP00000218032:P221T	P	+	1	0	TLR8	12847741	1.000000	0.71417	0.503000	0.27626	0.029000	0.11900	3.064000	0.49986	2.048000	0.60808	0.523000	0.50628	CCA		0.368	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		109	442	1	0	3.27315e-48	1	4.03804e-48	109	442					A	12937820	C	A	12937820	3	1	79	1	0	0	0	0	1	0	0	0	16009	739	26	3	667	3	TLR8	23	12937820	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	202763	12937820	142332740	21226	31543											
EGFL6	25975	broad.mit.edu	37	chrX	13618094	13618094	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttctaaatgtccctgcagAtgtgaatgagtgtggaatga	11	5	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	ENST00000361306.1	+	4	538	c.281A>G	c.(280-282)gAt>gGt	p.D94G	EGFL6_ENST00000380602.3_Splice_Site_p.D94G	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	94	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GTCCCTGCAGATGTGAATGAG	0.478																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.e4-1		EGF-like-domain, multiple 6							113	92	99					X																	13618094		2203	4300	6503	SO:0001630	splice_region_variant	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13618094A>G	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.281-1A>G	X.37:g.13618094A>G						EGFL6_ENST00000380602.3_Splice_Site_p.D94_splice	p.D94_splice	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			4	538	+			94			EGF-like 2; calcium-binding (Potential).		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Splice_Site	SNP	ENST00000361306.1	37	c.280_splice	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949921	0.53186	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.99060	-5.38;-5.38	5.09	5.09	0.68999	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99253	1.0888	9	.	.	.	.	13.7231	0.62740	1.0:0.0:0.0:0.0	.	94;94	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	G	94	ENSP00000355126:D94G;ENSP00000369976:D94G	.	D	+	2	0	EGFL6	13528015	1.000000	0.71417	0.947000	0.38551	0.007000	0.05969	8.945000	0.92985	1.695000	0.51148	0.486000	0.48141	GAT		0.478	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507	Missense_Mutation	63	256	0	0	0	1	0	63	256					G	13618094	A	G	13618094	5	3	79	1	0	0	0	0	0	0	1	0	4979	347	12	4	295	4	EGFL6	23	13618094	Splice_Site	SNP	A	TCGA-IB-7651-01A-11D-2154-08	680274	13618094	141652466	21227	31544											
EGFL6	25975	broad.mit.edu	37	chrX	13645136	13645136	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccttctcttaaagctattgGcttctatatggcagttccgg	8	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13645136G>T	ENST00000361306.1	+	11	1549	c.1292G>T	c.(1291-1293)gGc>gTc	p.G431V	EGFL6_ENST00000473826.1_3'UTR|EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	431	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGCTATTGGCTTCTATATG	0.388																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(1291-1293)gGc>gTc		EGF-like-domain, multiple 6							76	84	81					X																	13645136		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13645136G>T	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1292G>T	X.37:g.13645136G>T	ENSP00000355126:p.Gly431Val					EGFL6_ENST00000380602.3_Missense_Mutation_p.G432V|EGFL6_ENST00000473826.1_3'UTR	p.G431V	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			11	1549	+			431			MAM.		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.1292G>T	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.636831	0.67130	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	T;T	0.32272	1.46;1.46	5.0	5.0	0.66597	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76900	-0.2788	10	0.87932	D	0	.	17.4988	0.87726	0.0:0.0:1.0:0.0	.	432;431	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	V	431;432	ENSP00000355126:G431V;ENSP00000369976:G432V	ENSP00000355126:G431V	G	+	2	0	EGFL6	13555057	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.750000	0.74888	2.059000	0.61396	0.600000	0.82982	GGC		0.388	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		107	451	1	0	3.01456e-30	1	3.53427e-30	107	451					T	13645136	G	T	13645136	3	4	79	1	0	0	0	0	1	0	0	0	4979	1203	42	3	1337	3	EGFL6	23	13645136	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27042	13645136	141625424	21228	31545											
RAB9A	9367	broad.mit.edu	37	chrX	13727191	13727191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaattcatatattatgCagatgtgaaagagcctgaga	10	4	1	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727191C>T	ENST00000464506.1	+	3	605	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	109					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATATATTATGCAGATGTGAAA	0.418																																						ENST00000464506.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(325-327)gCa>gTa		RAB9A, member RAS oncogene family							97	96	96					X																	13727191		2202	4300	6502	SO:0001583	missense	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727191C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"RAB, member RAS oncogene"	9792	protein-coding gene	gene with protein product		300284	"RAB9, member RAS oncogene family"	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.326C>T	X.37:g.13727191C>T	ENSP00000420127:p.Ala109Val					RAB9A_ENST00000243325.5_3'UTR	p.A109V	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN			3	605	+			109					A8K390|Q6ICN1	Missense_Mutation	SNP	ENST00000464506.1	37	c.326C>T	CCDS14156.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425573	0.83667	.	.	ENSG00000123595	ENST00000464506	T	0.77358	-1.09	5.42	4.52	0.55395	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.83103	-0.0127	9	.	.	.	-3.5585	14.6906	0.69083	0.1455:0.8545:0.0:0.0	.	109	P51151	RAB9A_HUMAN	V	109	ENSP00000420127:A109V	.	A	+	2	0	RAB9A	13637112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.257000	0.74773	0.594000	0.82650	GCA		0.418	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		149	597	0	0	0	1	0	149	597					T	13727191	C	T	13727191	3	4	79	1	0	0	0	0	1	0	0	0	13008	710	25	2	328	2	RAB9A	23	13727191	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	82055	13727191	141543369	21229	31546											
OFD1	8481	broad.mit.edu	37	chrX	13767603	13767603	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactaaaagatatggatttgCtaagaggaagagaagcagag	12	3	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13767603C>T	ENST00000340096.6	+	9	1213	c.886C>T	c.(886-888)Cta>Tta	p.L296L	OFD1_ENST00000380550.3_Silent_p.L296L|OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000380567.1_Silent_p.L156L|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	296					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						TATGGATTTGCTAAGAGGAAG	0.303																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(466-468)Cta>Tta		oral-facial-digital syndrome 1							63	61	61					X																	13767603		2203	4295	6498	SO:0001819	synonymous_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13767603C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.886C>T	X.37:g.13767603C>T						OFD1_ENST00000398395.3_Silent_p.L296L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Silent_p.L296L|OFD1_ENST00000380550.3_Silent_p.L296L	p.L156L			O75665	OFD1_HUMAN			10	1338	+			296					B9ZVU5|O75666|Q4VAK4	Silent	SNP	ENST00000340096.6	37	c.466C>T	CCDS14157.1																																																																																				0.303	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		56	186	0	0	0	1	0	56	186					T	13767603	C	T	13767603	2	4	79	1	0	0	0	0	0	0	0	1	10880	796	28	2		2	OFD1	23	13767603	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40412	13767603	141502957	21230	31547											
GEMIN8	54960	broad.mit.edu	37	chrX	14038477	14038477	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctcattatcgtaagaGctttggggaagaagcgcaga	13	8	1	3	rs137990246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14038477G>T	ENST00000380523.4	-	4	510	c.192C>A	c.(190-192)agC>agA	p.S64R	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	64					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TATCGTAAGAGCTTTGGGGAA	0.498																																						ENST00000380523.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						c.(190-192)agC>agA		gem (nuclear organelle) associated protein 8							131	114	120					X																	14038477		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038477G>T	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"family with sequence similarity 51, member A1"	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.192C>A	X.37:g.14038477G>T	ENSP00000369895:p.Ser64Arg					GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.S64R	p.S64R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN			4	510	-			64					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.192C>A	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	g	8.948	0.967554	0.18659	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.46819	0.86;0.86;0.86	5.15	3.35	0.38373	.	0.471114	0.25978	N	0.027094	T	0.31167	0.0788	L	0.38175	1.15	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.13229	-1.0517	10	0.33940	T	0.23	.	3.0956	0.06308	0.1643:0.1332:0.5638:0.1387	.	64	Q9NWZ8	GEMI8_HUMAN	R	64	ENSP00000369895:S64R;ENSP00000381398:S64R;ENSP00000369894:S64R	ENSP00000369894:S64R	S	-	3	2	GEMIN8	13948398	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.217000	0.09253	0.975000	0.38392	-0.306000	0.09157	AGC		0.498	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1	NM_017856		138	488	1	0	1.36427e-64	1	1.72405e-64	138	488					T	14038477	G	T	14038477	3	4	79	1	0	0	0	0	1	0	0	0	6363	962	34	3	544	3	GEMIN8	23	14038477	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270874	14038477	141232083	21231	31548											
GLRA2	2742	broad.mit.edu	37	chrX	14548183	14548183	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacagaaacaggaatgAaccggcagctagtgaacatt	10	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14548183A>G	ENST00000218075.4	+	1	534	c.4A>G	c.(4-6)Aac>Gac	p.N2D	GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	2					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AACAGGAATGAACCGGCAGCT	0.378																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(4-6)Aac>Gac		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						119	104	109					X																	14548183		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14548183A>G		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.4A>G	X.37:g.14548183A>G	ENSP00000218075:p.Asn2Asp					GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.N2D	p.N2D	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			1	534	+	Hepatocellular(33;0.128)		2					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.4A>G	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609106	0.28623	.	.	ENSG00000101958	ENST00000218075;ENST00000355020	T;T	0.79141	-1.24;-1.24	5.47	4.28	0.50868	.	0.080983	0.52532	D	0.000071	T	0.67116	0.2859	N	0.08118	0	0.80722	D	1	P;P	0.49696	0.88;0.927	P;P	0.56563	0.636;0.801	T	0.62053	-0.6935	10	0.07644	T	0.81	.	10.5663	0.45175	0.8539:0.0:0.0:0.1461	.	2;2	P23416;P23416-2	GLRA2_HUMAN;.	D	2	ENSP00000218075:N2D;ENSP00000347123:N2D	ENSP00000218075:N2D	N	+	1	0	GLRA2	14458104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.505000	0.60421	0.777000	0.33496	0.441000	0.28932	AAC		0.378	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			95	340	0	0	0	1	0	95	340					G	14548183	A	G	14548183	3	3	79	1	0	0	0	0	1	0	0	0	6484	246	9	4	6	4	GLRA2	23	14548183	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	509706	14548183	140722377	21232	31549											
GLRA2	2742	broad.mit.edu	37	chrX	14625300	14625300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgagtggttaagtgatggtCcagtgcaagttgctgaagga	15	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14625300C>A	ENST00000218075.4	+	6	1155	c.625C>A	c.(625-627)Cca>Aca	p.P209T	GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T|GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	209					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	AAGTGATGGTCCAGTGCAAGT	0.403																																						ENST00000218075.4																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37						c.(625-627)Cca>Aca		glycine receptor, alpha 2	Ethanol(DB00898)|Glycine(DB00145)						171	153	159					X																	14625300		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14625300C>A		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.625C>A	X.37:g.14625300C>A	ENSP00000218075:p.Pro209Thr					GLRA2_ENST00000443437.2_Missense_Mutation_p.P120T|GLRA2_ENST00000355020.4_Missense_Mutation_p.P209T	p.P209T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN			6	1155	+	Hepatocellular(33;0.128)		209					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.625C>A	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009569	0.75046	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.58	5.58	0.84498	Neurotransmitter-gated ion-channel ligand-binding (3);	0.143817	0.64402	D	0.000005	D	0.84392	0.5462	M	0.62723	1.935	0.58432	D	0.999999	P;P;P	0.43024	0.798;0.643;0.736	P;B;P	0.52823	0.595;0.188;0.71	D	0.85646	0.1279	10	0.87932	D	0	.	18.7972	0.91999	0.0:1.0:0.0:0.0	.	193;209;209	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	T	120;209;209;193	ENSP00000387756:P120T;ENSP00000218075:P209T;ENSP00000347123:P209T;ENSP00000391606:P193T	ENSP00000218075:P209T	P	+	1	0	GLRA2	14535221	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	2.720000	0.47252	2.471000	0.83476	0.600000	0.82982	CCA		0.403	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			125	458	1	0	1.40678e-64	1	1.77767e-64	125	458					A	14625300	C	A	14625300	3	1	79	1	0	0	0	0	1	0	0	0	6484	855	30	3	719	3	GLRA2	23	14625300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77117	14625300	140645260	21233	31550											
FANCB	2187	broad.mit.edu	37	chrX	14883249	14883249	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttaggccatccttcatctcAtagcctagtttaaaactcaa	4	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14883249A>G	ENST00000324138.3	-	2	537	c.384T>C	c.(382-384)taT>taC	p.Y128Y	FANCB_ENST00000398334.1_Silent_p.Y128Y	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	128					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)					CCTTCATCTCATAGCCTAGTT	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000398334.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						c.(382-384)taT>taC	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group B							42	41	41					X																	14883249		2203	4299	6502	SO:0001819	synonymous_variant	2187	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883249A>G	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.384T>C	X.37:g.14883249A>G						FANCB_ENST00000324138.3_Silent_p.Y128Y	p.Y128Y	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN			3	651	-	Hepatocellular(33;0.183)		128					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.384T>C	CCDS14161.1																																																																																				0.308	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		66	156	0	0	0	1	0	66	156					G	14883249	A	G	14883249	2	3	79	1	0	0	0	0	0	0	0	1	5688	224	8	4		4	FANCB	23	14883249	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	257949	14883249	140387311	21234	31551											
MOSPD2	158747	broad.mit.edu	37	chrX	14929376	14929376	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggatcctttcaagtatagCtatccaccactagtagatga	7	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14929376C>A	ENST00000380492.3	+	9	808	c.720C>A	c.(718-720)agC>agA	p.S240R	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|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	240			S -> N (in dbSNP:rs35164803).			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)					TCAAGTATAGCTATCCACCAC	0.373																																						ENST00000380492.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(718-720)agC>agA		motile sperm domain containing 2							159	155	156					X																	14929376		2203	4300	6503	SO:0001583	missense	158747					integral to membrane	structural molecule activity	g.chrX:14929376C>A	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.720C>A	X.37:g.14929376C>A	ENSP00000369860:p.Ser240Arg					MOSPD2_ENST00000482354.1_Missense_Mutation_p.S240R|MOSPD2_ENST00000495110.1_3'UTR	p.S240R	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN			9	808	+	Hepatocellular(33;0.183)		240		S -> N (in dbSNP:rs35164803).			Q8N3H2|Q8NA83	Missense_Mutation	SNP	ENST00000380492.3	37	c.720C>A	CCDS14162.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302246	0.60195	.	.	ENSG00000130150	ENST00000380492	T	0.61274	0.12	4.85	3.72	0.42706	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.078294	0.85682	D	0.000000	T	0.62986	0.2473	M	0.75264	2.295	0.58432	D	0.999998	D	0.58620	0.983	P	0.55455	0.776	T	0.65113	-0.6247	10	0.46703	T	0.11	.	3.4507	0.07496	0.0:0.5535:0.0:0.4465	.	240	Q8NHP6	MSPD2_HUMAN	R	240	ENSP00000369860:S240R	ENSP00000369860:S240R	S	+	3	2	MOSPD2	14839297	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.855000	0.27805	2.120000	0.65058	0.594000	0.82650	AGC		0.373	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055837.1	NM_152581		142	606	1	0	3.1958e-86	1	4.09675e-86	142	606					A	14929376	C	A	14929376	3	1	79	1	0	0	0	0	1	0	0	0	9757	796	28	3	754	3	MOSPD2	23	14929376	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	46127	14929376	140341184	21235	31552											
ASB9	140462	broad.mit.edu	37	chrX	15276992	15276992	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attttcaaaaagctacctggCtgatgaggttcctcagagac	9	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15276992C>A	ENST00000380488.4	-	2	443	c.170G>T	c.(169-171)aGc>aTc	p.S57I	ASB9_ENST00000546332.1_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	57					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)					AGCTACCTGGCTGATGAGGTT	0.373																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(169-171)aGc>aTc		ankyrin repeat and SOCS box containing 9							113	97	102					X																	15276992		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15276992C>A	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.170G>T	X.37:g.15276992C>A	ENSP00000369855:p.Ser57Ile					ASB9_ENST00000380485.3_Missense_Mutation_p.S57I|ASB9_ENST00000380483.3_Missense_Mutation_p.S57I|ASB9_ENST00000380488.4_Missense_Mutation_p.S57I|ASB9_ENST00000473862.1_5'UTR	p.S57I	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			3	653	-	Hepatocellular(33;0.183)		57					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.170G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111713	0.56398	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	-0.17;-0.16;-0.16;-0.16	5.84	2.18	0.27775	Ankyrin repeat-containing domain (3);	0.519060	0.24381	N	0.039004	T	0.70527	0.3234	M	0.67625	2.065	0.31781	N	0.630865	D;P;D;P	0.62365	0.991;0.847;0.979;0.954	P;P;P;P	0.60609	0.877;0.674;0.858;0.644	T	0.73043	-0.4107	10	0.87932	D	0	-4.8505	8.4539	0.32888	0.0:0.4907:0.0:0.5093	.	57;57;57;57	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	I	57	ENSP00000369850:S57I;ENSP00000369852:S57I;ENSP00000369855:S57I;ENSP00000438943:S57I	ENSP00000369850:S57I	S	-	2	0	ASB9	15186913	0.051000	0.20477	0.970000	0.41538	0.636000	0.38137	-0.574000	0.05868	0.003000	0.14656	-0.192000	0.12808	AGC		0.373	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			75	237	1	0	3.20846e-33	1	3.7991e-33	75	237					A	15276992	C	A	15276992	3	1	79	1	0	0	0	0	1	0	0	0	1031	797	28	3	767	3	ASB9	23	15276992	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	347616	15276992	139993568	21236	31553											
ASB11	140456	broad.mit.edu	37	chrX	15301646	15301646	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actattggtataggaggaatCgttcgagtggctctggcaga	14	6	1	1	rs201426380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15301646C>T	ENST00000480796.1	-	7	1003	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q|ASB11_ENST00000537676.1_Missense_Mutation_p.R297Q			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	318	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)					TAGGAGGAATCGTTCGAGTGG	0.498													C|||	1	0.000264901	0.0	0.0	3775	,	,		13336	0.0		0.0	False		,,,				2504	0.001					ENST00000537676.1																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(889-891)cGa>cAa		ankyrin repeat and SOCS box containing 11		C	GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	231	187	202		890,902,953	1.1	1	X		202	1,6727		0,1,2427,1872	no	missense,missense,missense	ASB11	NM_001012428.2,NM_001201583.1,NM_080873.2	43,43,43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign,benign,benign	297/303,301/307,318/324	15301646	1,10562	2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction			g.chrX:15301646C>T	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.953G>A	X.37:g.15301646C>T	ENSP00000417914:p.Arg318Gln					ASB11_ENST00000480796.1_Missense_Mutation_p.R318Q|ASB11_ENST00000344384.4_Missense_Mutation_p.R297Q|ASB11_ENST00000380470.3_Missense_Mutation_p.R301Q	p.R297Q			Q8WXH4	ASB11_HUMAN			7	962	-	Hepatocellular(33;0.183)		318			SOCS box.		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.890G>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849570	0.17034	0.0	1.49E-4	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.72	1.12	0.20585	SOCS protein, C-terminal (3);	0.373056	0.25344	N	0.031341	T	0.24160	0.0585	N	0.21583	0.68	0.20873	N	0.999834	B;B;B	0.16802	0.011;0.005;0.019	B;B;B	0.15484	0.013;0.006;0.01	T	0.15150	-1.0447	10	0.27082	T	0.32	-7.9194	7.6607	0.28402	0.0:0.2848:0.0:0.7152	.	301;318;297	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	Q	297;301;297;318	ENSP00000445465:R297Q;ENSP00000369837:R301Q;ENSP00000343408:R297Q;ENSP00000417914:R318Q	ENSP00000343408:R297Q	R	-	2	0	ASB11	15211567	1.000000	0.71417	0.979000	0.43373	0.237000	0.25408	2.239000	0.43079	0.147000	0.19030	-0.296000	0.09543	CGA		0.498	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			193	666	0	0	0	1	0	193	666					T	15301646	C	T	15301646	3	4	79	1	0	0	0	0	1	0	0	0	1016	884	31	1	22	1	ASB11	23	15301646	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	24654	15301646	139968914	21237	31554											
PIR	8544	broad.mit.edu	37	chrX	15403175	15403175	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggccctttcaaacccatttTttgcgtttctgaaatcaaga	6	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15403175T>G	ENST00000380421.3	-	10	1284	c.824A>C	c.(823-825)aAa>aCa	p.K275T	FIGF_ENST00000297904.3_5'Flank|PIR_ENST00000380420.5_Missense_Mutation_p.K275T	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	275					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AAACCCATTTTTTGCGTTTCT	0.418																																					Ovarian(180;1587 2015 10555 34192 51653)	ENST00000380421.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(823-825)aAa>aCa		pirin (iron-binding nuclear protein)							137	119	125					X																	15403175		2202	4300	6502	SO:0001583	missense	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15403175T>G	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.824A>C	X.37:g.15403175T>G	ENSP00000369786:p.Lys275Thr					PIR_ENST00000380420.5_Missense_Mutation_p.K275T	p.K275T	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN			10	1284	-	Hepatocellular(33;0.183)		275					Q5U0G0|Q6FHD2	Missense_Mutation	SNP	ENST00000380421.3	37	c.824A>C	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	T	7.107	0.575318	0.13623	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.44881	0.91;0.91	5.28	4.09	0.47781	Cupin, RmlC-type (1);Pirin, C-terminal (1);	0.302120	0.37178	N	0.002203	T	0.22205	0.0535	N	0.13140	0.3	0.29606	N	0.847304	B	0.15141	0.012	B	0.21151	0.033	T	0.07443	-1.0772	10	0.27082	T	0.32	-0.8345	5.3461	0.16010	0.0:0.0995:0.1951:0.7054	.	275	O00625	PIR_HUMAN	T	275	ENSP00000369785:K275T;ENSP00000369786:K275T	ENSP00000369785:K275T	K	-	2	0	PIR	15313096	0.943000	0.32029	0.989000	0.46669	0.372000	0.29890	0.392000	0.20801	1.871000	0.54225	0.430000	0.28490	AAA		0.418	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662		20	358	0	0	0	1	0	20	358					G	15403175	T	G	15403175	3	3	79	1	0	0	0	0	1	0	0	0	11986	1841	64	4	52	4	PIR	23	15403175	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	101529	15403175	139867385	21238	31555											
BMX	660	broad.mit.edu	37	chrX	15552432	15552432	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttgattccattccaaagCttattcattatcatcaacac	3	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15552432C>A	ENST00000357607.2	+	12	1305	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	BMX_ENST00000348343.6_Missense_Mutation_p.L373I|BMX_ENST00000342014.6_Missense_Mutation_p.L373I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	373	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)					CATTCCAAAGCTTATTCATTA	0.338																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1117-1119)Ctt>Att		BMX non-receptor tyrosine kinase							127	123	124					X																	15552432		2203	4297	6500	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15552432C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1117C>A	X.37:g.15552432C>A	ENSP00000350224:p.Leu373Ile					BMX_ENST00000348343.6_Missense_Mutation_p.L373I|BMX_ENST00000342014.6_Missense_Mutation_p.L373I	p.L373I			P51813	BMX_HUMAN			12	1305	+	Hepatocellular(33;0.183)		373			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1117C>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338533	0.60963	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.58940	0.3;0.3;0.3	5.07	5.07	0.68467	SH2 motif (5);	0.000000	0.52532	D	0.000075	T	0.73048	0.3537	M	0.75884	2.315	0.43014	D	0.994558	D	0.76494	0.999	D	0.87578	0.998	T	0.73908	-0.3834	10	0.40728	T	0.16	.	11.31	0.49358	0.1819:0.8181:0.0:0.0	.	373	P51813	BMX_HUMAN	I	373	ENSP00000350224:L373I;ENSP00000308774:L373I;ENSP00000340082:L373I	ENSP00000340082:L373I	L	+	1	0	BMX	15462353	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	2.803000	0.47924	2.083000	0.62718	0.600000	0.82982	CTT		0.338	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		125	409	1	0	1.05615e-46	1	1.29851e-46	125	409					A	15552432	C	A	15552432	3	1	79	1	0	0	0	0	1	0	0	0	1475	797	28	3	1159	3	BMX	23	15552432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	149257	15552432	139718128	21239	31556											
BMX	660	broad.mit.edu	37	chrX	15568034	15568034	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgacaactcccaggtggttCtgaaggtctcccagggccac	11	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15568034C>A	ENST00000357607.2	+	18	2055	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	BMX_ENST00000348343.6_Missense_Mutation_p.L623M|BMX_ENST00000342014.6_Missense_Mutation_p.L623M			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	623	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGGTGGTTCTGAAGGTCTC	0.572																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(1867-1869)Ctg>Atg		BMX non-receptor tyrosine kinase							161	137	145					X																	15568034		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15568034C>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1867C>A	X.37:g.15568034C>A	ENSP00000350224:p.Leu623Met					BMX_ENST00000348343.6_Missense_Mutation_p.L623M|BMX_ENST00000342014.6_Missense_Mutation_p.L623M	p.L623M			P51813	BMX_HUMAN			18	2055	+	Hepatocellular(33;0.183)		623			Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1867C>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644307	0.47258	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.68	1.82	0.25136	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.586451	0.16020	N	0.233329	T	0.70605	0.3243	N	0.17474	0.49	0.23636	N	0.997231	B	0.22541	0.071	B	0.31191	0.125	T	0.62353	-0.6872	10	0.72032	D	0.01	.	7.5313	0.27685	0.151:0.2529:0.5962:0.0	.	623	P51813	BMX_HUMAN	M	623	ENSP00000350224:L623M;ENSP00000308774:L623M;ENSP00000340082:L623M	ENSP00000340082:L623M	L	+	1	2	BMX	15477955	0.998000	0.40836	0.476000	0.27291	0.976000	0.68499	2.077000	0.41557	0.172000	0.19760	-0.223000	0.12442	CTG		0.572	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		160	601	1	0	2.63875e-70	1	3.35177e-70	160	601					A	15568034	C	A	15568034	3	1	79	1	0	0	0	0	1	0	0	0	1475	912	32	3	1933	3	BMX	23	15568034	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	15602	15568034	139702526	21240	31557											
ZRSR2	8233	broad.mit.edu	37	chrX	15827333	15827333	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaacagttggaaaatgGtaccacatggcaaaacccag	8	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15827333G>A	ENST00000307771.7	+	7	473	c.449G>A	c.(448-450)gGt>gAt	p.G150D		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	150					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)					TTGGAAAATGGTACCACATGG	0.378			"F, S, Mis"		"MDS, CLL"																																NSCLC(197;1631 3042 5741 31152)	ENST00000307771.7				Rec	yes		X	Xp22.1	8233	"F, S, Mis"	"zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2"			L			"MDS, CLL"		0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48						c.(448-450)gGt>gAt		zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2							112	102	106					X																	15827333		2203	4300	6503	SO:0001583	missense	8233				spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	g.chrX:15827333G>A	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.449G>A	X.37:g.15827333G>A	ENSP00000303015:p.Gly150Asp						p.G150D	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN			7	473	+	Hepatocellular(33;0.183)		150					Q14D69	Missense_Mutation	SNP	ENST00000307771.7	37	c.449G>A	CCDS14172.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378601	0.61735	.	.	ENSG00000169249	ENST00000307771	D	0.85955	-2.05	5.31	3.44	0.39384	.	0.322273	0.37219	N	0.002193	D	0.86859	0.6034	M	0.69358	2.11	0.80722	D	1	D	0.59357	0.985	P	0.51945	0.685	D	0.84916	0.0851	10	0.46703	T	0.11	.	11.3939	0.49830	0.0:0.1333:0.725:0.1417	.	150	Q15696	U2AFM_HUMAN	D	150	ENSP00000303015:G150D	ENSP00000303015:G150D	G	+	2	0	ZRSR2	15737254	1.000000	0.71417	0.035000	0.18076	0.985000	0.73830	5.920000	0.70017	0.475000	0.27415	0.594000	0.82650	GGT		0.378	ZRSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055889.1	NM_005089		142	472	0	0	0	1	0	142	472					A	15827333	G	A	15827333	3	1	79	1	0	0	0	0	1	0	0	0	18278	1261	44	2	475	2	ZRSR2	23	15827333	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	259299	15827333	139443227	21241	31558											
GRPR	2925	broad.mit.edu	37	chrX	16168591	16168591	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcaccaaccagaccTtcattagctgtgccccatac	7	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16168591T>G	ENST00000380289.2	+	2	975	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	193					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAACCAGACCTTCATTAGCTG	0.498																																						ENST00000380289.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25						c.(577-579)Ttc>Gtc		gastrin-releasing peptide receptor							228	170	190					X																	16168591		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16168591T>G		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.577T>G	X.37:g.16168591T>G	ENSP00000369643:p.Phe193Val						p.F193V	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN			2	975	+	Hepatocellular(33;0.183)		193					B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.577T>G	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822558	0.90873	.	.	ENSG00000126010	ENST00000380289	T	0.70516	-0.49	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	L	0.38649	1.16	0.58432	D	0.999999	P	0.51240	0.943	P	0.54026	0.74	T	0.69258	-0.5192	10	0.30854	T	0.27	-31.2772	13.8099	0.63256	0.0:0.0:0.0:1.0	.	193	P30550	GRPR_HUMAN	V	193	ENSP00000369643:F193V	ENSP00000369643:F193V	F	+	1	0	GRPR	16078512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	1.857000	0.53885	0.486000	0.48141	TTC		0.498	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		154	471	0	0	0	1	0	154	471					G	16168591	T	G	16168591	3	3	79	1	0	0	0	0	1	0	0	0	6838	1609	56	4	583	4	GRPR	23	16168591	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	341258	16168591	139101969	21242	31559											
CTPS2	56474	broad.mit.edu	37	chrX	16635291	16635291	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acttgccagttcaatgatttCcatcctgtctccatcaacat	4	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16635291C>T	ENST00000443824.1	-	16	2271	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K|CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	510	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCAATGATTTCCATCCTGTCT	0.378																																						ENST00000443824.1																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1528-1530)Gaa>Aaa		CTP synthase 2							200	181	187					X																	16635291		2203	4300	6503	SO:0001583	missense	56474				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity	g.chrX:16635291C>T	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"CTP synthase II"			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1528G>A	X.37:g.16635291C>T	ENSP00000401264:p.Glu510Lys					CTPS2_ENST00000359276.4_Missense_Mutation_p.E510K|CTPS2_ENST00000380241.3_Missense_Mutation_p.E510K	p.E510K	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN			16	2271	-	Hepatocellular(33;0.0997)		510			Glutamine amidotransferase type-1.		B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	c.1528G>A	CCDS14175.1	.	.	.	.	.	.	.	.	.	.	C	31	5.068700	0.93950	.	.	ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276	D;D;D	0.90676	-2.71;-2.71;-2.71	5.91	5.91	0.95273	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.97108	0.9055	H	0.95917	3.74	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.98106	1.0417	10	0.87932	D	0	-28.8314	18.7625	0.91858	0.0:1.0:0.0:0.0	.	510	Q9NRF8	PYRG2_HUMAN	K	510	ENSP00000401264:E510K;ENSP00000369590:E510K;ENSP00000352222:E510K	ENSP00000352222:E510K	E	-	1	0	CTPS2	16545212	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.089000	0.76909	2.482000	0.83794	0.600000	0.82982	GAA		0.378	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055906.1	NM_019857		156	498	0	0	0	1	0	156	498					T	16635291	C	T	16635291	3	4	79	1	0	0	0	0	1	0	0	0	4034	864	30	2	244	2	CTPS2	23	16635291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	466700	16635291	138635269	21243	31560											
TXLNG	55787	broad.mit.edu	37	chrX	16855753	16855753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taagtttgaagaattccagaCtaccatggcaaaaagcaatg	8	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16855753C>T	ENST00000380122.5	+	8	1158	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	366					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAATTCCAGACTACCATGGCA	0.313																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(1096-1098)aCt>aTt		taxilin gamma							90	78	82					X																	16855753		2202	4300	6502	SO:0001583	missense	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16855753C>T	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.1097C>T	X.37:g.16855753C>T	ENSP00000369465:p.Thr366Ile					TXLNG_ENST00000398155.4_Missense_Mutation_p.T234I	p.T366I	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			8	1158	+			366					Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	ENST00000380122.5	37	c.1097C>T	CCDS14178.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776198	0.70107	.	.	ENSG00000086712	ENST00000380122;ENST00000398155	T;T	0.30981	1.51;1.51	5.41	5.41	0.78517	.	0.049162	0.85682	D	0.000000	T	0.48572	0.1507	L	0.43152	1.355	0.54753	D	0.999981	D;D	0.69078	0.979;0.997	P;D	0.67900	0.81;0.954	T	0.41840	-0.9486	10	0.51188	T	0.08	-13.8671	18.5566	0.91088	0.0:1.0:0.0:0.0	.	234;366	Q9NUQ3-2;Q9NUQ3	.;TXLNG_HUMAN	I	366;234	ENSP00000369465:T366I;ENSP00000381222:T234I	ENSP00000369465:T366I	T	+	2	0	TXLNG	16765674	0.999000	0.42202	0.997000	0.53966	0.988000	0.76386	3.366000	0.52343	2.411000	0.81874	0.436000	0.28706	ACT		0.313	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		37	142	0	0	0	1	0	37	142					T	16855753	C	T	16855753	3	4	79	1	0	0	0	0	1	0	0	0	16843	565	20	2	1127	2	TXLNG	23	16855753	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	220462	16855753	138414807	21244	31561											
BEND2	139105	broad.mit.edu	37	chrX	18209204	18209204	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttgagtaactcattgtcCcataactcatttgtgggcca	8	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18209204C>T	ENST00000380033.4	-	8	1337	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCATTGTCCCATAACTCAT	0.368																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(1204-1206)gGg>gAg		BEN domain containing 2							200	168	179					X																	18209204		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18209204C>T	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.1205G>A	X.37:g.18209204C>T	ENSP00000369372:p.Gly402Glu					BEND2_ENST00000380030.3_Missense_Mutation_p.G311E	p.G402E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			8	1337	-			402					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1205G>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.187430	0.01620	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.18502	2.21;2.31	3.03	-0.898	0.10550	.	2.177200	0.01931	N	0.041245	T	0.08537	0.0212	N	0.16790	0.44	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.12837	0.008;0.0	T	0.17868	-1.0355	10	0.02654	T	1	-0.0082	3.3303	0.07082	0.2052:0.1411:0.0:0.6537	.	311;402	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	E	402;311	ENSP00000369372:G402E;ENSP00000369369:G311E	ENSP00000369369:G311E	G	-	2	0	BEND2	18119125	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.275000	0.08525	-0.286000	0.09076	-1.169000	0.01745	GGG		0.368	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		53	219	0	0	0	1	0	53	219					T	18209204	C	T	18209204	3	4	79	1	0	0	0	0	1	0	0	0	1399	623	22	2	1248	2	BEND2	23	18209204	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1353451	18209204	137061356	21245	31562											
BEND2	139105	broad.mit.edu	37	chrX	18221838	18221838	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataaagttccatggcataccGaaacaaggaaatgagccacc	8	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18221838G>A	ENST00000380033.4	-	5	822	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_ENST00000380030.3_Silent_p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	230								p.F230F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGGCATACCGAAACAAGGAA	0.453																																						ENST00000380033.4																			1	Substitution - coding silent(1)	p.F230F(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(688-690)ttC>ttT		BEN domain containing 2							168	135	146					X																	18221838		2203	4300	6503	SO:0001819	synonymous_variant	139105							g.chrX:18221838G>A	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.690C>T	X.37:g.18221838G>A						BEND2_ENST00000380030.3_Silent_p.F230F	p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			5	822	-			230					E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	c.690C>T	CCDS14184.1																																																																																				0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		116	395	0	0	0	1	0	116	395					A	18221838	G	A	18221838	2	1	79	1	0	0	0	0	0	0	0	1	1399	1049	37	1		1	BEND2	23	18221838	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12634	18221838	137048722	21246	31563											
CDKL5	6792	broad.mit.edu	37	chrX	18646512	18646512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagccattaaaatcactgCgcaagttgttacatctctct	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18646512C>T	ENST00000379989.3	+	19	2803	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	840					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)					AAAATCACTGCGCAAGTTGTT	0.493																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2518-2520)Cgc>Tgc		cyclin-dependent kinase-like 5							251	266	261					X																	18646512		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18646512C>T	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.2518C>T	X.37:g.18646512C>T	ENSP00000369325:p.Arg840Cys					CDKL5_ENST00000379996.3_Missense_Mutation_p.R840C	p.R840C	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			19	2803	+	Hepatocellular(33;0.183)		840					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2518C>T	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246893	0.59103	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.75367	-0.93;-0.93	5.73	5.73	0.89815	.	0.049980	0.85682	D	0.000000	T	0.77928	0.4204	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.64506	0.926	T	0.80054	-0.1543	10	0.87932	D	0	-17.7035	12.2655	0.54676	0.0:0.9208:0.0:0.0792	.	840	O76039	CDKL5_HUMAN	C	840	ENSP00000369332:R840C;ENSP00000369325:R840C	ENSP00000369325:R840C	R	+	1	0	CDKL5	18556433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.594000	0.67557	2.398000	0.81561	0.594000	0.82650	CGC		0.493	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		411	1517	0	0	0	1	0	411	1517					T	18646512	C	T	18646512	3	4	79	1	0	0	0	0	1	0	0	0	3166	768	27	1	2584	1	CDKL5	23	18646512	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	424674	18646512	136624048	21247	31564											
RS1	6247	broad.mit.edu	37	chrX	18662597	18662597	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaaatccagttcaggcgctCatcggtcctgtactgcacgc	10	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18662597C>A	ENST00000379984.3	-	5	515	c.475G>T	c.(475-477)Gag>Tag	p.E159*	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	159	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)	p.E159K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCAGGCGCTCATCGGTCCTG	0.527																																						ENST00000379984.3																			1	Substitution - Missense(1)	p.E159K(1)	skin(1)	cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(475-477)Gag>Tag		retinoschisin 1							180	137	151					X																	18662597		2203	4300	6503	SO:0001587	stop_gained	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18662597C>A	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.475G>T	X.37:g.18662597C>A	ENSP00000369320:p.Glu159*					RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	p.E159*	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			5	515	-	Hepatocellular(33;0.183)		159			F5/8 type C.		Q0QD39	Nonsense_Mutation	SNP	ENST00000379984.3	37	c.475G>T	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	c	36	5.821973	0.96989	.	.	ENSG00000102104	ENST00000379984	.	.	.	4.91	4.91	0.64330	.	0.136484	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.5225	0.87791	0.0:1.0:0.0:0.0	.	.	.	.	X	159	.	ENSP00000369320:E159X	E	-	1	0	RS1	18572518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.275000	0.78548	2.410000	0.81850	0.591000	0.81541	GAG		0.527	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			127	425	1	0	6.61771e-47	1	8.13826e-47	127	425					A	18662597	C	A	18662597	4	1	79	1	0	0	0	0	0	1	0	0	13743	835	29	3	207	3	RS1	23	18662597	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	16085	18662597	136607963	21248	31565											
CDKL5	6792	broad.mit.edu	37	chrX	18671647	18671647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacataccatgagaatgcgGcactgacgggcaagtgactt	12	9	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18671647G>A	ENST00000379989.3	+	22	3361	c.3076G>A	c.(3076-3078)Gca>Aca	p.A1026T	RS1_ENST00000476595.1_5'Flank|RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	1026					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)					TGAGAATGCGGCACTGACGGG	0.517																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(3076-3078)Gca>Aca		cyclin-dependent kinase-like 5							59	45	50					X																	18671647		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18671647G>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"Cyclin-dependent kinases"	11411	protein-coding gene	gene with protein product		300203	"serine/threonine kinase 9"	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.3076G>A	X.37:g.18671647G>A	ENSP00000369325:p.Ala1026Thr					RS1_ENST00000379984.3_Intron|CDKL5_ENST00000379996.3_Missense_Mutation_p.A1026T	p.A1026T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			22	3361	+	Hepatocellular(33;0.183)		1026					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.3076G>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769422	0.49680	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.71222	-0.55;-0.55	4.32	-0.897	0.10553	.	1.488660	0.04571	N	0.393227	T	0.48429	0.1499	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38351	-0.9665	10	0.87932	D	0	-0.0154	3.5465	0.07831	0.5001:0.0:0.3104:0.1895	.	1026	O76039	CDKL5_HUMAN	T	1026	ENSP00000369332:A1026T;ENSP00000369325:A1026T	ENSP00000369325:A1026T	A	+	1	0	CDKL5	18581568	0.364000	0.24997	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	-0.349000	0.08274	-0.191000	0.12829	GCA		0.517	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		31	103	0	0	0	1	0	31	103					A	18671647	G	A	18671647	3	1	79	1	0	0	0	0	1	0	0	0	3166	1203	42	2	3154	2	CDKL5	23	18671647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	9050	18671647	136598913	21249	31566											
PPEF1	5475	broad.mit.edu	37	chrX	18824540	18824540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgactatattttctgCttctaattattatgaagaag	9	4	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18824540C>T	ENST00000361511.4	+	15	1765	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	424	Catalytic.				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)					ATATTTTCTGCTTCTAATTAT	0.373																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1270-1272)gCt>gTt		protein phosphatase, EF-hand calcium binding domain 1							130	128	129					X																	18824540		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18824540C>T	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.1271C>T	X.37:g.18824540C>T	ENSP00000354871:p.Ala424Val					PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000359763.6_Missense_Mutation_p.A371V|PPEF1_ENST00000349874.5_Missense_Mutation_p.A362V|PPEF1_ENST00000544635.1_Missense_Mutation_p.A359V	p.A424V	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			15	1765	+	Hepatocellular(33;0.183)		424			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1271C>T	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	c	15.94	2.980000	0.53827	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.57	4.71	0.59529	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.432853	0.21774	N	0.069307	T	0.50633	0.1627	M	0.84773	2.715	0.58432	D	0.999993	D;D;D	0.89917	0.972;1.0;0.972	P;D;P	0.91635	0.536;0.999;0.536	T	0.57081	-0.7872	10	0.72032	D	0.01	-6.5339	13.6719	0.62430	0.0:0.9238:0.0:0.0762	.	362;424;396	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	V	424;371;362;359	ENSP00000354871:A424V;ENSP00000352806:A371V;ENSP00000341892:A362V;ENSP00000441289:A359V	ENSP00000341892:A362V	A	+	2	0	PPEF1	18734461	1.000000	0.71417	0.986000	0.45419	0.102000	0.19082	7.356000	0.79445	1.116000	0.41820	-0.329000	0.08387	GCT		0.373	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		168	478	0	0	0	1	0	168	478					T	18824540	C	T	18824540	3	4	79	1	0	0	0	0	1	0	0	0	12349	797	28	2	1317	2	PPEF1	23	18824540	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	152893	18824540	136446020	21250	31567											
PPEF1	5475	broad.mit.edu	37	chrX	18843868	18843868	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttagaaaatctttattttaGgctcattctactctagttga	5	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18843868G>A	ENST00000361511.4	+	18	2159		c.e18-1		PPEF1_ENST00000543630.1_Splice_Site|PPEF1_ENST00000349874.5_Splice_Site|PPEF1_ENST00000544635.1_Splice_Site|PPEF1_ENST00000359763.6_Splice_Site	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1						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)					CTTTATTTTAGGCTCATTCTA	0.318																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.e18-1		protein phosphatase, EF-hand calcium binding domain 1							94	85	88					X																	18843868		2203	4300	6503	SO:0001630	splice_region_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18843868G>A	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.1666-1G>A	X.37:g.18843868G>A						PPEF1_ENST00000543630.1_Splice_Site|PPEF1_ENST00000359763.6_Splice_Site|PPEF1_ENST00000349874.5_Splice_Site|PPEF1_ENST00000544635.1_Splice_Site		NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			18	2159	+	Hepatocellular(33;0.183)							A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Splice_Site	SNP	ENST00000361511.4	37		CCDS14188.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149345	0.37923	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7776	0.85555	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPEF1	18753789	1.000000	0.71417	0.971000	0.41717	0.242000	0.25591	8.412000	0.90232	2.221000	0.72209	0.544000	0.68410	.		0.318	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	Intron	49	206	0	0	0	1	0	49	206					A	18843868	G	A	18843868	5	1	79	1	0	0	0	0	0	0	1	0	12349	1014	35	2	1723	2	PPEF1	23	18843868	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19328	18843868	136426692	21251	31568											
PHKA2	5256	broad.mit.edu	37	chrX	18911709	18911710	+	Frame_Shift_Ins	INS	-	-	A													cccactcggagcgctgtcatINSaaaagaagtggcagattcct					rs373407231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911709_18911710insA	ENST00000379942.4	-	33	4266_4267	c.3601_3602insT	c.(3601-3603)tatfs	p.Y1201fs	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1201					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)					AGCGCTGTCATAAAAGAAGTGG	0.525																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3601-3603)tgafs		phosphorylase kinase, alpha 2 (liver)																																				SO:0001589	frameshift_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911709_18911710insA		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.3602dupT	X.37:g.18911713_18911713dupA	ENSP00000369274:p.Tyr1201fs					PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA	p.*1201fs	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			33	4266_4267	-	Hepatocellular(33;0.183)		1201					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Frame_Shift_Ins	INS	ENST00000379942.4	37	c.3601_3602insT	CCDS14190.1																																																																																				0.525	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		225	868						225	868	---	---	---	---	A	18911710	-	A	18911709	7	5	79	1	0	1	1	0	0	0	0	0	11886	1406	49	0	109	0	PHKA2	23	18911709	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	67841	18911709	136358851	21252	31569											
PHKA2	5256	broad.mit.edu	37	chrX	18911732	18911732	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagaagtggcagattcctgtGgcttggtctttctccagggt	13	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911732G>T	ENST00000379942.4	-	33	4244	c.3579C>A	c.(3577-3579)gcC>gcA	p.A1193A	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1193					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)					AGATTCCTGTGGCTTGGTCTT	0.537																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(3577-3579)gcC>gcA		phosphorylase kinase, alpha 2 (liver)							158	155	156					X																	18911732		2203	4300	6503	SO:0001819	synonymous_variant	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18911732G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3579C>A	X.37:g.18911732G>T						PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	p.A1193A	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			33	4244	-	Hepatocellular(33;0.183)		1193					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	ENST00000379942.4	37	c.3579C>A	CCDS14190.1																																																																																				0.537	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		171	655	1	0	1.82853e-86	1	2.34462e-86	171	655					T	18911732	G	T	18911732	2	4	79	1	0	0	0	0	0	0	0	1	11886	1335	47	3		3	PHKA2	23	18911732	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23	18911732	136358828	21253	31570											
GPR64	10149	broad.mit.edu	37	chrX	19028891	19028891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatactgctggtgttgaCgatgtctatatcaaagagcc	10	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	ENST00000379869.3	-	17	1268	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	GPR64_ENST00000379878.3_Missense_Mutation_p.V353I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I|GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	369					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTTGACGATGTCTATA	0.438																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1057-1059)Gtc>Atc		G protein-coupled receptor 64							132	100	111					X																	19028891		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19028891C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1105G>A	X.37:g.19028891C>T	ENSP00000369198:p.Val369Ile					GPR64_ENST00000379869.3_Missense_Mutation_p.V369I|GPR64_ENST00000354791.3_Missense_Mutation_p.V353I|GPR64_ENST00000379876.1_Missense_Mutation_p.V345I|GPR64_ENST00000357991.3_Missense_Mutation_p.V366I|GPR64_ENST00000379873.2_Missense_Mutation_p.V369I|GPR64_ENST00000360279.4_Missense_Mutation_p.V347I|GPR64_ENST00000356606.4_Missense_Mutation_p.V355I|GPR64_ENST00000340581.3_Missense_Mutation_p.V339I|GPR64_ENST00000357544.3_Missense_Mutation_p.V339I	p.V353I	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			16	1298	-	Hepatocellular(33;0.183)		369					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1057G>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	4.987	0.183340	0.09495	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.34859	1.41;1.52;1.52;1.52;1.51;1.56;1.51;1.56;1.56;1.34	5.81	-0.0528	0.13820	.	1.173110	0.06308	N	0.702179	T	0.22704	0.0548	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.20671	0.007;0.012;0.014;0.005;0.005;0.047;0.047;0.047;0.027;0.003;0.008	B;B;B;B;B;B;B;B;B;B;B	0.15484	0.002;0.008;0.013;0.008;0.008;0.013;0.013;0.013;0.013;0.004;0.005	T	0.28038	-1.0056	10	0.48119	T	0.1	.	0.9248	0.01322	0.4206:0.2507:0.1223:0.2064	.	339;331;339;345;353;369;347;355;366;369;353	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	369;353;353;345;339;369;347;366;355;339	ENSP00000369202:V369I;ENSP00000369207:V353I;ENSP00000346845:V353I;ENSP00000369205:V345I;ENSP00000350152:V339I;ENSP00000369198:V369I;ENSP00000353421:V347I;ENSP00000350680:V366I;ENSP00000349015:V355I;ENSP00000344972:V339I	ENSP00000344972:V339I	V	-	1	0	GPR64	18938812	0.199000	0.23386	0.001000	0.08648	0.050000	0.14768	-0.188000	0.09642	-0.065000	0.13021	0.600000	0.82982	GTC		0.438	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			86	301	0	0	0	1	0	86	301					T	19028891	C	T	19028891	3	4	79	1	0	0	0	0	1	0	0	0	6734	536	19	1	2000	1	GPR64	23	19028891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	117159	19028891	136241669	21254	31571											
GPR64	10149	broad.mit.edu	37	chrX	19086907	19086907	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgaacgtcagtaaaacttCttcagttctgccaacatggc	7	11	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19086907C>T	ENST00000379869.3	-	3	209	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	GPR64_ENST00000379878.3_Missense_Mutation_p.E16K|GPR64_ENST00000379876.1_Missense_Mutation_p.E16K|GPR64_ENST00000357991.3_Missense_Mutation_p.E16K|GPR64_ENST00000354791.3_Missense_Mutation_p.E16K|GPR64_ENST00000379873.2_Missense_Mutation_p.E16K|GPR64_ENST00000356606.4_Missense_Mutation_p.E16K|GPR64_ENST00000357544.3_Missense_Mutation_p.E16K|GPR64_ENST00000340581.3_Missense_Mutation_p.E16K|GPR64_ENST00000360279.4_Missense_Mutation_p.E16K	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	16					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGTAAAACTTCTTCAGTTCTG	0.403																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(46-48)Gaa>Aaa		G protein-coupled receptor 64							157	136	143					X																	19086907		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19086907C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.46G>A	X.37:g.19086907C>T	ENSP00000369198:p.Glu16Lys					GPR64_ENST00000379869.3_Missense_Mutation_p.E16K|GPR64_ENST00000354791.3_Missense_Mutation_p.E16K|GPR64_ENST00000379876.1_Missense_Mutation_p.E16K|GPR64_ENST00000357991.3_Missense_Mutation_p.E16K|GPR64_ENST00000379873.2_Missense_Mutation_p.E16K|GPR64_ENST00000360279.4_Missense_Mutation_p.E16K|GPR64_ENST00000356606.4_Missense_Mutation_p.E16K|GPR64_ENST00000340581.3_Missense_Mutation_p.E16K|GPR64_ENST00000357544.3_Missense_Mutation_p.E16K	p.E16K	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			3	287	-	Hepatocellular(33;0.183)		16					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.46G>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790652	0.31685	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.38722	1.27;1.38;1.39;1.32;1.28;1.43;1.4;1.43;1.43;1.12	5.32	4.46	0.54185	.	0.198301	0.24993	N	0.033977	T	0.30665	0.0772	N	0.19112	0.55	0.23113	N	0.998273	B;P;P;P;P;P;P;P;P;B;B	0.37500	0.281;0.454;0.454;0.454;0.454;0.597;0.597;0.597;0.454;0.325;0.325	B;B;B;B;B;B;B;B;B;B;B	0.39531	0.04;0.234;0.234;0.234;0.234;0.302;0.302;0.287;0.234;0.118;0.118	T	0.18335	-1.0340	10	0.87932	D	0	.	10.5215	0.44922	0.1934:0.8066:0.0:0.0	.	16;16;16;16;16;16;16;16;16;16;16	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	K	16	ENSP00000369202:E16K;ENSP00000369207:E16K;ENSP00000346845:E16K;ENSP00000369205:E16K;ENSP00000350152:E16K;ENSP00000369198:E16K;ENSP00000353421:E16K;ENSP00000350680:E16K;ENSP00000349015:E16K;ENSP00000344972:E16K	ENSP00000344972:E16K	E	-	1	0	GPR64	18996828	0.994000	0.37717	0.674000	0.29902	0.277000	0.26821	1.624000	0.37018	1.019000	0.39547	-0.178000	0.13098	GAA		0.403	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			11	508	0	0	0	1	0	11	508					T	19086907	C	T	19086907	3	4	79	1	0	0	0	0	1	0	0	0	6734	922	32	2	3115	2	GPR64	23	19086907	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	58016	19086907	136183653	21255	31572											
PDHA1	5160	broad.mit.edu	37	chrX	19373539	19373539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttcatctgtgagaataatCgctatggaatgggaacgtct	10	6	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19373539C>T	ENST00000422285.2	+	7	781	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PDHA1_ENST00000379806.5_Missense_Mutation_p.R264C|PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	226					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					TGAGAATAATCGCTATGGAAT	0.458																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(790-792)Cgc>Tgc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						137	130	132					X																	19373539		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19373539C>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.676C>T	X.37:g.19373539C>T	ENSP00000394382:p.Arg226Cys					PDHA1_ENST00000422285.2_Missense_Mutation_p.R226C|PDHA1_ENST00000545074.1_Missense_Mutation_p.R233C|PDHA1_ENST00000540249.1_Missense_Mutation_p.R195C	p.R264C	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			8	935	+	Hepatocellular(33;0.183)		226					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.790C>T	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337215	0.81911	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.76	4.9	0.64082	Dehydrogenase, E1 component (1);	0.095399	0.64402	D	0.000001	D	0.97173	0.9076	M	0.70108	2.13	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.997;0.997;0.997	P;P;P;P;P	0.56398	0.773;0.797;0.759;0.762;0.759	D	0.96667	0.9493	10	0.62326	D	0.03	-23.0063	9.2392	0.37486	0.1438:0.7815:0.0:0.0748	.	195;233;226;264;226	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	C	264;233;195;226	ENSP00000369134:R264C;ENSP00000438550:R233C;ENSP00000440761:R195C;ENSP00000394382:R226C	ENSP00000369134:R264C	R	+	1	0	PDHA1	19283460	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.064000	0.41432	1.313000	0.45069	0.594000	0.82650	CGC		0.458	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			187	657	0	0	0	1	0	187	657					T	19373539	C	T	19373539	3	4	79	1	0	0	0	0	1	0	0	0	11706	884	31	1	841	1	PDHA1	23	19373539	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	286632	19373539	135897021	21256	31573											
MAP3K15	389840	broad.mit.edu	37	chrX	19379653	19379653	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccttgcagccgcaaccaGtctataagctctttatctgt	7	13	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19379653G>A	ENST00000338883.4	-	27	3737	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1246							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)					GCCGCAACCAGTCTATAAGCT	0.403																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3736-3738)gaC>gaT		mitogen-activated protein kinase kinase kinase 15							107	107	107					X																	19379653		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19379653G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3738C>T	X.37:g.19379653G>A						PDHA1_ENST00000422285.2_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.D681D	p.D1246D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			27	3737	-	Hepatocellular(33;0.183)		1246					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.3738C>T																																																																																					0.403	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		82	655	0	0	0	1	0	82	655					A	19379653	G	A	19379653	2	1	79	1	0	0	0	0	0	0	0	1	9290	1020	36	2		2	MAP3K15	23	19379653	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6114	19379653	135890907	21257	31574											
MAP3K15	389840	broad.mit.edu	37	chrX	19413252	19413252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccgttctctgaaacagagCccaggtactgaacgatattg	10	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19413252C>T	ENST00000338883.4	-	16	2140	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						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)					TGAAACAGAGCCCAGGTACTG	0.483																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2140-2142)gGc>gAc		mitogen-activated protein kinase kinase kinase 15							167	139	148					X																	19413252		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19413252C>T	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.2141G>A	X.37:g.19413252C>T	ENSP00000345629:p.Gly714Asp					MAP3K15_ENST00000469203.2_Missense_Mutation_p.G546D|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.G149D	p.G714D	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			16	2140	-	Hepatocellular(33;0.183)		714			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.2141G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.373227	0.82573	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.25579	1.79;1.79;1.79	5.91	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	0.45597	0.1350	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	T	0.42361	-0.9456	10	0.87932	D	0	.	14.1375	0.65297	0.0:0.9264:0.0:0.0736	.	189;714	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	D	714;149;546	ENSP00000345629:G714D;ENSP00000352093:G149D;ENSP00000428356:G546D	ENSP00000345629:G714D	G	-	2	0	MAP3K15	19323173	1.000000	0.71417	0.960000	0.40013	0.898000	0.52572	7.429000	0.80309	1.243000	0.43853	0.597000	0.82753	GGC		0.483	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		139	512	0	0	0	1	0	139	512					T	19413252	C	T	19413252	3	4	79	1	0	0	0	0	1	0	0	0	9290	739	26	2	1856	2	MAP3K15	23	19413252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	33599	19413252	135857308	21258	31575											
MAP7D2	256714	broad.mit.edu	37	chrX	20074873	20074873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccagctgctgtgtgcGctccagggaccggcgcatca	13	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20074873G>A	ENST00000379651.3	-	4	427	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	137					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						TGCTGTGTGCGCTCCAGGGAC	0.557																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(409-411)Cgc>Tgc		MAP7 domain containing 2							99	70	80					X																	20074873		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20074873G>A	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.409C>T	X.37:g.20074873G>A	ENSP00000368972:p.Arg137Cys					MAP7D2_ENST00000379643.5_Missense_Mutation_p.R137C|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R8C|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R137C|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R93C	p.R137C	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			4	427	-			137					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.409C>T	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426952	0.43122	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324;ENST00000330274	T;T;T;T;T	0.12774	2.65;2.65;3.04;2.65;2.65	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000003	T	0.39517	0.1081	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.92;0.963;0.963;0.999;0.92;0.963	T	0.23440	-1.0188	10	0.87932	D	0	-9.6776	18.3055	0.90179	0.0:0.0:1.0:0.0	.	137;93;137;137;137;8	B7Z3S7;C9JYW0;Q96T17-2;B5ME62;Q96T17;F5GYC2	.;.;.;.;MA7D2_HUMAN;.	C	137;137;8;137;93;137	ENSP00000368972:R137C;ENSP00000368964:R137C;ENSP00000440691:R8C;ENSP00000388239:R137C;ENSP00000413301:R93C	ENSP00000332677:R137C	R	-	1	0	MAP7D2	19984794	1.000000	0.71417	0.729000	0.30791	0.238000	0.25445	5.118000	0.64673	2.349000	0.79799	0.506000	0.49869	CGC		0.557	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		60	218	0	0	0	1	0	60	218					A	20074873	G	A	20074873	3	1	79	1	0	0	0	0	1	0	0	0	9309	1087	38	1	1964	1	MAP7D2	23	20074873	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	661621	20074873	135195687	21259	31576											
MAP7D2	256714	broad.mit.edu	37	chrX	20134917	20134917	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcaccgcgcccggttctgcGatcttccctgggagagaggt	14	14	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20134917G>A	ENST00000379651.3	-	1	99	c.81C>T	c.(79-81)atC>atT	p.I27I	MAP7D2_ENST00000452324.3_5'Flank|MAP7D2_ENST00000443379.3_Silent_p.I27I|MAP7D2_ENST00000379643.5_Silent_p.I27I	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	27					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						CCGGTTCTGCGATCTTCCCTG	0.716																																						ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(79-81)atC>atT		MAP7 domain containing 2							17	18	18					X																	20134917		2200	4291	6491	SO:0001819	synonymous_variant	256714							g.chrX:20134917G>A	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.81C>T	X.37:g.20134917G>A						MAP7D2_ENST00000379643.5_Silent_p.I27I|MAP7D2_ENST00000443379.3_Silent_p.I27I	p.I27I	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			1	99	-			27					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	ENST00000379651.3	37	c.81C>T	CCDS14195.1																																																																																				0.716	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		27	50	0	0	0	1	0	27	50					A	20134917	G	A	20134917	2	1	79	1	0	0	0	0	0	0	0	1	9309	1048	37	1		1	MAP7D2	23	20134917	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60044	20134917	135135643	21260	31577											
CNKSR2	22866	broad.mit.edu	37	chrX	21519642	21519642	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttatattaaattcagtcacCtgcagatcggtgcaagaaaa	7	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21519642C>A	ENST00000379510.3	+	8	782	c.746C>A	c.(745-747)cCt>cAt	p.P249H	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P249H	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	249	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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						ATTCAGTCACCTGCAGATCGG	0.348																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(745-747)cCt>cAt		connector enhancer of kinase suppressor of Ras 2							47	44	45					X																	21519642		2202	4299	6501	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21519642C>A	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.746C>A	X.37:g.21519642C>A	ENSP00000368824:p.Pro249His					CNKSR2_ENST00000379510.3_Missense_Mutation_p.P249H|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P249H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P249H	p.P249H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			8	1226	+			249			PDZ.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.746C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893322	0.72524	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.98	5.09	0.68999	PDZ/DHR/GLGF (4);	0.057904	0.64402	D	0.000001	T	0.64800	0.2631	M	0.92604	3.325	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.99;0.987;0.992	T	0.74287	-0.3714	10	0.87932	D	0	-18.6417	15.6383	0.76973	0.1375:0.8625:0.0:0.0	.	249;249;249	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	H	249	ENSP00000397906:P249H;ENSP00000444633:P249H;ENSP00000279451:P249H;ENSP00000368824:P249H	ENSP00000279451:P249H	P	+	2	0	CNKSR2	21429563	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.174000	0.58256	2.524000	0.85096	0.544000	0.68410	CCT		0.348	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		27	120	1	0	5.61819e-17	1	6.18885e-17	27	120					A	21519642	C	A	21519642	3	1	79	1	0	0	0	0	1	0	0	0	3616	681	24	3	776	3	CNKSR2	23	21519642	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1384725	21519642	133750918	21261	31578											
KLHL34	257240	broad.mit.edu	37	chrX	21674239	21674239	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcggtcgtagggcagCggccgcaaccgagtccactg	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21674239C>T	ENST00000379499.2	-	1	2209	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	556						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTAGGGCAGCGGCCGCAACC	0.677																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1666-1668)ccG>ccA		kelch-like family member 34							13	12	12					X																	21674239		2174	4241	6415	SO:0001819	synonymous_variant	257240							g.chrX:21674239C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1668G>A	X.37:g.21674239C>T							p.P556P	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	2209	-			556						Silent	SNP	ENST00000379499.2	37	c.1668G>A	CCDS14199.1																																																																																				0.677	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		10	45	0	0	0	1	0	10	45					T	21674239	C	T	21674239	2	4	79	1	0	0	0	0	0	0	0	1	8417	755	27	1		1	KLHL34	23	21674239	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	154597	21674239	133596321	21262	31579											
KLHL34	257240	broad.mit.edu	37	chrX	21675171	21675171	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggcccttgacccgggCgggcagcacgaggccagagc	17	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21675171C>T	ENST00000379499.2	-	1	1277	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	246						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TTGACCCGGGCGGGCAGCACG	0.682													C|||	1	0.000264901	0.0008	0.0	3775	,	,		10801	0.0		0.0	False		,,,				2504	0.0					ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(736-738)Gcc>Acc		kelch-like family member 34							18	18	18					X																	21675171		2198	4293	6491	SO:0001583	missense	257240							g.chrX:21675171C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.736G>A	X.37:g.21675171C>T	ENSP00000368813:p.Ala246Thr						p.A246T	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1277	-			246						Missense_Mutation	SNP	ENST00000379499.2	37	c.736G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692502	0.00731	.	.	ENSG00000185915	ENST00000379499	T	0.72505	-0.66	4.65	-0.922	0.10468	.	0.198499	0.44097	N	0.000496	T	0.46171	0.1379	L	0.31578	0.945	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14615	-1.0466	10	0.12430	T	0.62	.	3.0359	0.06122	0.13:0.4688:0.248:0.1531	.	246	Q8N239	KLH34_HUMAN	T	246	ENSP00000368813:A246T	ENSP00000368813:A246T	A	-	1	0	KLHL34	21585092	0.000000	0.05858	0.009000	0.14445	0.381000	0.30169	-0.519000	0.06260	-0.187000	0.10516	0.422000	0.28245	GCC		0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		32	112	0	0	0	1	0	32	112					T	21675171	C	T	21675171	3	4	79	1	0	0	0	0	1	0	0	0	8417	768	27	1	1202	1	KLHL34	23	21675171	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	932	21675171	133595389	21263	31580											
SMPX	23676	broad.mit.edu	37	chrX	21755811	21755811	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccgaggtgggaggaAcaccctgaagagcaaggaga	14	10	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21755811A>G	ENST00000379494.3	-	4	370	c.137T>C	c.(136-138)gTt>gCt	p.V46A	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	46					striated muscle contraction (GO:0006941)	costamere (GO:0043034)|M band (GO:0031430)|muscle tendon junction (GO:0005927)|nucleus (GO:0005634)				breast(1)|endometrium(1)	2						GGTGGGAGGAACACCCTGAAG	0.408																																						ENST00000379494.3																			0				breast(1)|endometrium(1)	2						c.(136-138)gTt>gCt		small muscle protein, X-linked							83	74	77					X																	21755811		2203	4300	6503	SO:0001583	missense	23676				striated muscle contraction			g.chrX:21755811A>G		CCDS14200.1	Xp22.2-p22.1	2014-01-28			ENSG00000091482	ENSG00000091482			11122	protein-coding gene	gene with protein product		300226	"deafness, X-linked 6, sensorineural"	DFN6		21893181	Standard	NM_014332		Approved	DFNX4	uc004daa.3	Q9UHP9	OTTHUMG00000021235	ENST00000379494.3:c.137T>C	X.37:g.21755811A>G	ENSP00000368808:p.Val46Ala					SMPX_ENST00000494525.1_5'UTR	p.V46A	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN			4	370	-			46					B1AWX2	Missense_Mutation	SNP	ENST00000379494.3	37	c.137T>C	CCDS14200.1	.	.	.	.	.	.	.	.	.	.	A	5.414	0.261572	0.10239	.	.	ENSG00000091482	ENST00000379494	.	.	.	6.11	0.0316	0.14171	.	0.883982	0.10193	N	0.704369	T	0.21509	0.0518	.	.	.	0.25343	N	0.988934	B	0.02656	0.0	B	0.01281	0.0	T	0.27054	-1.0085	8	0.09338	T	0.73	-3.5021	10.4529	0.44533	0.5545:0.0:0.4455:0.0	.	46	Q9UHP9	SMPX_HUMAN	A	46	.	ENSP00000368808:V46A	V	-	2	0	SMPX	21665732	0.000000	0.05858	0.992000	0.48379	0.887000	0.51463	-1.951000	0.01529	0.005000	0.14708	-0.287000	0.09952	GTT		0.408	SMPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056023.1	NM_014332		23	252	0	0	0	1	0	23	252					G	21755811	A	G	21755811	3	3	79	1	0	0	0	0	1	0	0	0	14860	43	2	4	133	4	SMPX	23	21755811	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	80640	21755811	133514749	21264	31581											
PHEX	5251	broad.mit.edu	37	chrX	22129647	22129647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattccaaaccttagcaggcGctttcagtatagatggctgg	10	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:22129647G>A	ENST00000379374.4	+	10	1707	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PHEX_ENST00000535894.1_Missense_Mutation_p.R284H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H|PHEX_ENST00000418858.3_Missense_Mutation_p.R84H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	381					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						CTTAGCAGGCGCTTTCAGTAT	0.383																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1141-1143)cGc>cAc		phosphate regulating endopeptidase homolog, X-linked							151	144	146					X																	22129647		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22129647G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1142G>A	X.37:g.22129647G>A	ENSP00000368682:p.Arg381His					PHEX_ENST00000418858.3_Missense_Mutation_p.R84H|PHEX_ENST00000535894.1_Missense_Mutation_p.R284H|PHEX_ENST00000537599.1_Missense_Mutation_p.R381H	p.R381H	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			10	1707	+			381					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1142G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838748	0.91117	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.58	5.58	0.84498	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71414	0.953;0.973	D	0.92463	0.5979	10	0.62326	D	0.03	.	18.2521	0.90007	0.0:0.0:1.0:0.0	.	381;381	F5GXU4;P78562	.;PHEX_HUMAN	H	381;381;284;84	ENSP00000368682:R381H;ENSP00000440362:R381H;ENSP00000439418:R284H;ENSP00000443531:R84H	ENSP00000368682:R381H	R	+	2	0	PHEX	22039568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.944000	0.87722	2.349000	0.79799	0.600000	0.82982	CGC		0.383	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		195	557	0	0	0	1	0	195	557					A	22129647	G	A	22129647	3	1	79	1	0	0	0	0	1	0	0	0	11861	1087	38	1	1180	1	PHEX	23	22129647	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	373836	22129647	133140913	21265	31582											
DDX53	168400	broad.mit.edu	37	chrX	23020059	23020059	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagacgcaaggagttttatTttttaagttgaaaagttgta	9	2	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23020059T>G	ENST00000327968.5	+	1	1973	c.1885T>G	c.(1885-1887)Ttt>Gtt	p.F629V	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	629						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGAGTTTTATTTTTTAAGTTG	0.358																																						ENST00000327968.5																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						c.(1885-1887)Ttt>Gtt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							22	23	22					X																	23020059		2188	4261	6449	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23020059T>G	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1885T>G	X.37:g.23020059T>G	ENSP00000368667:p.Phe629Val					RP11-40F8.2_ENST00000455399.1_RNA	p.F629V	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN			1	1973	+			629					Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1885T>G	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.308209	0.23821	.	.	ENSG00000184735	ENST00000327968	T	0.20200	2.09	4.59	-5.8	0.02347	.	3.946380	0.01749	U	0.029825	T	0.10680	0.0261	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.16722	0.016	T	0.30679	-0.9970	10	0.62326	D	0.03	.	7.2613	0.26205	0.1135:0.4525:0.0:0.434	.	629	Q86TM3	DDX53_HUMAN	V	629	ENSP00000368667:F629V	ENSP00000368667:F629V	F	+	1	0	DDX53	22929980	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.032000	0.00637	-1.289000	0.02375	-1.381000	0.01174	TTT		0.358	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		37	138	0	0	0	1	0	37	138					G	23020059	T	G	23020059	3	3	79	1	0	0	0	0	1	0	0	0	4382	1841	64	4	1887	4	DDX53	23	23020059	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	890412	23020059	132250501	21266	31583											
PTCHD1	139411	broad.mit.edu	37	chrX	23398084	23398084	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcagactgtttcagaaatCcaacagcaaagtcaaaatgt	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23398084C>A	ENST00000379361.4	+	2	1588	c.728C>A	c.(727-729)tCc>tAc	p.S243Y		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	243					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						TTTCAGAAATCCAACAGCAAA	0.507																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(727-729)tCc>tAc		patched domain containing 1							235	216	222					X																	23398084		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398084C>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.728C>A	X.37:g.23398084C>A	ENSP00000368666:p.Ser243Tyr						p.S243Y	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1588	+			243					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.728C>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774582	0.49786	.	.	ENSG00000165186	ENST00000379361	D	0.86694	-2.16	4.86	3.0	0.34707	.	0.348412	0.31370	N	0.007762	D	0.85457	0.5701	N	0.19112	0.55	0.32494	N	0.539809	P;P	0.51537	0.727;0.946	B;P	0.59115	0.408;0.852	D	0.86509	0.1808	10	0.46703	T	0.11	.	12.1616	0.54107	0.475:0.525:0.0:0.0	.	138;243	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	Y	243	ENSP00000368666:S243Y	ENSP00000368666:S243Y	S	+	2	0	PTCHD1	23308005	0.842000	0.29525	0.999000	0.59377	0.997000	0.91878	1.156000	0.31712	0.502000	0.28037	0.600000	0.82982	TCC		0.507	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		257	963	1	0	8.30384e-64	1	1.04868e-63	257	963					A	23398084	C	A	23398084	3	1	79	1	0	0	0	0	1	0	0	0	12779	855	30	3	734	3	PTCHD1	23	23398084	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	378025	23398084	131872476	21267	31584											
ZFX	7543	broad.mit.edu	37	chrX	24190912	24190912	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaaactcattttttgatgCaacaggtataactacttgaa	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24190912C>T	ENST00000379177.1	+	5	480	c.53C>T	c.(52-54)gCa>gTa	p.A18V	ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000338565.3_Missense_Mutation_p.A18V|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	18					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						TTTTTTGATGCAACAGGTATA	0.383																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(52-54)gCa>gTa		zinc finger protein, X-linked							182	144	157					X																	24190912		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24190912C>T		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.53C>T	X.37:g.24190912C>T	ENSP00000368475:p.Ala18Val					ZFX_ENST00000338565.3_Missense_Mutation_p.A18V|ZFX_ENST00000304543.5_Missense_Mutation_p.A18V|ZFX_ENST00000540034.1_Missense_Mutation_p.A18V|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.A18V|ZFX_ENST00000459724.1_Intron	p.A18V	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			5	480	+			18					B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.53C>T	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261242	0.39995	.	.	ENSG00000005889	ENST00000428571;ENST00000379188;ENST00000419690;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.08807	3.2;3.2;3.2;3.05;3.21	5.23	4.37	0.52481	.	0.178042	0.37955	N	0.001867	T	0.06781	0.0173	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.34399	0.0;0.452;0.023;0.049	B;B;B;B	0.33454	0.001;0.164;0.029;0.039	T	0.31833	-0.9929	10	0.62326	D	0.03	-30.729	11.4795	0.50318	0.0:0.9143:0.0:0.0857	.	18;18;18;22	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	V	18	ENSP00000368486:A18V;ENSP00000368475:A18V;ENSP00000304985:A18V;ENSP00000441382:A18V;ENSP00000343384:A18V	ENSP00000304985:A18V	A	+	2	0	ZFX	24100833	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.357000	0.59436	1.090000	0.41315	0.600000	0.82982	GCA		0.383	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		46	217	0	0	0	1	0	46	217					T	24190912	C	T	24190912	3	4	79	1	0	0	0	0	1	0	0	0	17714	710	25	2	55	2	ZFX	23	24190912	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	792828	24190912	131079648	21268	31585											
PCYT1B	9468	broad.mit.edu	37	chrX	24625913	24625913	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttgcttgcataagggCtcttgcatgacctgagtgga	12	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24625913C>T	ENST00000379144.2	-	3	413	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T|PCYT1B_ENST00000379145.1_Missense_Mutation_p.A77T	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	95					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGCATAAGGGCTCTTGCATGA	0.423																																						ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(229-231)Gcc>Acc		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						95	88	90					X																	24625913		2203	4300	6503	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24625913C>T	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.283G>A	X.37:g.24625913C>T	ENSP00000368439:p.Ala95Thr					PCYT1B_ENST00000379144.2_Missense_Mutation_p.A95T|PCYT1B_ENST00000356768.4_Missense_Mutation_p.A95T	p.A77T	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			3	273	-			95			Catalytic (Potential).		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	c.229G>A	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763920	0.89932	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96554	-4.05;-4.05;-4.05	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.95300	0.8475	L	0.56769	1.78	0.80722	D	1	D;P;P	0.53745	0.962;0.86;0.86	B;B;B	0.43701	0.333;0.346;0.428	D	0.95264	0.8371	10	0.48119	T	0.1	-34.0451	17.8268	0.88668	0.0:1.0:0.0:0.0	.	95;77;95	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	T	77;95;95	ENSP00000368440:A77T;ENSP00000368439:A95T;ENSP00000349211:A95T	ENSP00000349211:A95T	A	-	1	0	PCYT1B	24535834	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.320000	0.79064	2.398000	0.81561	0.544000	0.68410	GCC		0.423	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		26	62	0	0	0	1	0	26	62					T	24625913	C	T	24625913	3	4	79	1	0	0	0	0	1	0	0	0	11653	797	28	2	887	2	PCYT1B	23	24625913	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	435001	24625913	130644647	21269	31586											
POLA1	5422	broad.mit.edu	37	chrX	24732735	24732735	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagctcgcagtgacaaaaccGaacaacattaagtcaatgtt	7	9	1	1	rs187670867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24732735G>A	ENST00000379059.3	+	5	408	c.393G>A	c.(391-393)ccG>ccA	p.P131P	POLA1_ENST00000379068.3_Silent_p.P137P	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	131					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGACAAAACCGAACAACATTA	0.353													G|||	3	0.000794702	0.0015	0.0	3775	,	,		13832	0.0		0.0	False		,,,				2504	0.001					ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(409-411)ccG>ccA		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)	G		2,3832		0,1,1,1631,569	102	92	95		393	-3.2	0.9	X		95	0,6726		0,0,0,2428,1870	no	coding-synonymous	POLA1	NM_016937.3		0,1,1,4059,2439	AA,AG,A,GG,G		0.0,0.0522,0.0189		131/1463	24732735	2,10558	2202	4298	6500	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24732735G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.393G>A	X.37:g.24732735G>A						POLA1_ENST00000379059.3_Silent_p.P131P	p.P137P			P09884	DPOLA_HUMAN			5	454	+			131					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.411G>A	CCDS14214.1																																																																																				0.353	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		19	44	0	0	0	1	0	19	44					A	24732735	G	A	24732735	2	1	79	1	0	0	0	0	0	0	0	1	12229	1045	37	1		1	POLA1	23	24732735	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	106822	24732735	130537825	21270	31587											
MAGEB6	158809	broad.mit.edu	37	chrX	26212149	26212149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgatgcctccattcctcaGgagtctcagggagtgtcacc	10	13	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212149G>T	ENST00000379034.1	+	2	335	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	62	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCATTCCTCAGGAGTCTCAGG	0.522																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(184-186)caG>caT		melanoma antigen family B, 6							112	98	103					X																	26212149		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212149G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.186G>T	X.37:g.26212149G>T	ENSP00000368320:p.Gln62His						p.Q62H	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	335	+			62			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.186G>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503317	0.26949	.	.	ENSG00000176746	ENST00000379034	T	0.08458	3.09	1.59	0.603	0.17541	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.08358	0.0208	L	0.58354	1.805	0.09310	N	1	B	0.28605	0.217	B	0.22753	0.041	T	0.27536	-1.0071	9	0.59425	D	0.04	.	5.1954	0.15233	0.0:0.3673:0.6327:0.0	.	62	Q8N7X4	MAGB6_HUMAN	H	62	ENSP00000368320:Q62H	ENSP00000368320:Q62H	Q	+	3	2	MAGEB6	26122070	0.000000	0.05858	0.003000	0.11579	0.165000	0.22458	-0.243000	0.08915	0.121000	0.18284	0.429000	0.28392	CAG		0.522	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		80	265	1	0	2.22156e-40	1	2.69346e-40	80	265					T	26212149	G	T	26212149	3	4	79	1	0	0	0	0	1	0	0	0	9220	991	35	3	188	3	MAGEB6	23	26212149	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1479414	26212149	129058411	21271	31588											
MAGEB6	158809	broad.mit.edu	37	chrX	26212833	26212833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgggtctcctgatgtcGctcctggttgtgatcttcat	11	10	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212833G>A	ENST00000379034.1	+	2	1019	c.870G>A	c.(868-870)tcG>tcA	p.S290S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	290	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCTGATGTCGCTCCTGGTTG	0.547																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(868-870)tcG>tcA		melanoma antigen family B, 6							160	150	153					X																	26212833		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212833G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.870G>A	X.37:g.26212833G>A							p.S290S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1019	+			290			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.870G>A	CCDS14217.1																																																																																				0.547	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		194	628	0	0	0	1	0	194	628					A	26212833	G	A	26212833	2	1	79	1	0	0	0	0	0	0	0	1	9220	1074	38	1		1	MAGEB6	23	26212833	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684	26212833	129057727	21272	31589											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998727	27998727	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaacttagcctggatgAcattaatatcgtgaccactc	8	9	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:27998727A>G	ENST00000441525.1	-	1	839	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	242								p.V242G(1)		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						AGCCTGGATGACATTAATATC	0.488																																						ENST00000441525.1																			1	Substitution - Missense(1)	p.V242G(1)	endometrium(1)	NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(724-726)gTc>gCc		DDB1 and CUL4 associated factor 8-like 1							71	63	66					X																	27998727		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998727A>G		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.725T>C	X.37:g.27998727A>G	ENSP00000405222:p.Val242Ala						p.V242A	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	839	-			242					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.725T>C	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.504791	0.44558	.	.	ENSG00000226372	ENST00000441525	D	0.88741	-2.42	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070917	0.56097	D	0.000032	D	0.91061	0.7187	M	0.91196	3.185	0.40817	D	0.983474	P	0.50943	0.94	P	0.49853	0.624	D	0.89265	0.3600	10	0.87932	D	0	-7.6917	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	242	A6NGE4	DC8L1_HUMAN	A	242	ENSP00000405222:V242A	ENSP00000405222:V242A	V	-	2	0	DCAF8L1	27908648	1.000000	0.71417	0.137000	0.22149	0.019000	0.09904	3.817000	0.55668	0.571000	0.29365	0.235000	0.17854	GTC		0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		49	208	0	0	0	1	0	49	208					G	27998727	A	G	27998727	3	3	79	1	0	0	0	0	1	0	0	0	4288	275	10	4	1081	4	DCAF8L1	23	27998727	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1785894	27998727	127271833	21273	31590											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29935582	29935582	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacttctctctgcaggTgactctgctaatctaacctg	6	14	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	ENST00000378993.1	+	7	1453	c.780T>C	c.(778-780)ggT>ggC	p.G260G	IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	260	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TCTCTGCAGGTGACTCTGCTA	0.358																																						ENST00000378993.1																			0				biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.e7-1		interleukin 1 receptor accessory protein-like 1							48	43	44					X																	29935582		2202	4300	6502	SO:0001630	splice_region_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29935582T>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.779-1T>C	X.37:g.29935582T>C						IL1RAPL1_ENST00000302196.4_Splice_Site_p.G260_splice	p.G260_splice	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			7	1453	+			260			Ig-like C2-type 3.		A0AVG4|Q9UJ53	Splice_Site	SNP	ENST00000378993.1	37	c.778_splice	CCDS14218.1																																																																																				0.358	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	Silent	32	126	0	0	0	1	0	32	126					C	29935582	T	C	29935582	5	2	79	1	0	0	0	0	0	0	1	0	7691	1710	59	4	802	4	IL1RAPL1	23	29935582	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1936855	29935582	125334978	21274	31591											
MAGEB4	4115	broad.mit.edu	37	chrX	30261225	30261225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagagttgcagccaggCgtggcactacagccatgact	13	13	0	2	rs374728070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30261225C>T	ENST00000378982.2	+	1	1169	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	325										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGCAGCCAGGCGTGGCACTAC	0.517																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(973-975)Cgt>Tgt		melanoma antigen family B, 4		C	CYS/ARG	0,3833		0,0,1631,571	49	43	45		973	0.3	0	X		45	1,6727		0,1,2427,1872	no	missense	MAGEB4	NM_002367.3	180	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	325/347	30261225	1,10560	2202	4300	6502	SO:0001583	missense	4115							g.chrX:30261225C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.973C>T	X.37:g.30261225C>T	ENSP00000368266:p.Arg325Cys						p.R325C	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	1169	+			325					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.973C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953177	0.18431	0.0	1.49E-4	ENSG00000120289	ENST00000378982	T	0.01821	4.62	3.14	0.282	0.15692	.	.	.	.	.	T	0.00906	0.0030	N	0.03608	-0.345	0.09310	N	1	D	0.59357	0.985	B	0.39503	0.301	T	0.53585	-0.8418	9	0.54805	T	0.06	.	5.9274	0.19120	0.0:0.2501:0.5807:0.1692	.	325	O15481	MAGB4_HUMAN	C	325	ENSP00000368266:R325C	ENSP00000368266:R325C	R	+	1	0	MAGEB4	30171146	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.192000	0.09587	-0.060000	0.13132	-0.355000	0.07637	CGT		0.517	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		68	223	0	0	0	1	0	68	223					T	30261225	C	T	30261225	3	4	79	1	0	0	0	0	1	0	0	0	9219	768	27	1	975	1	MAGEB4	23	30261225	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	325643	30261225	125009335	21275	31592											
NR0B1	190	broad.mit.edu	37	chrX	30327309	30327309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaggagcgccacgttccGcccgcccagcagcccctctc	10	20	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30327309G>A	ENST00000378970.4	-	1	406	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	NR0B1_ENST00000378963.1_5'Flank|NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	58	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)	GCCACGTTCCGCCCGCCCAGC	0.662																																						ENST00000378970.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24						c.(172-174)Cgg>Tgg		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						18	16	17					X																	30327309		2188	4279	6467	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30327309G>A	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.172C>T	X.37:g.30327309G>A	ENSP00000368253:p.Arg58Trp					NR0B1_ENST00000453287.1_Missense_Mutation_p.R58W	p.R58W	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN			1	406	-			58			4 X 67 AA tandem repeats.		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.172C>T	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413147	0.25465	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97994	-3.82;-4.65	4.42	2.59	0.31030	.	0.761802	0.11469	N	0.560960	D	0.96485	0.8853	L	0.55990	1.75	0.09310	N	1	D	0.63880	0.993	P	0.47470	0.548	D	0.90554	0.4511	10	0.87932	D	0	-12.9497	10.0129	0.41997	0.0:0.0:0.634:0.366	.	58	P51843	NR0B1_HUMAN	W	58	ENSP00000368253:R58W;ENSP00000396403:R58W	ENSP00000368253:R58W	R	-	1	2	NR0B1	30237230	0.001000	0.12720	0.005000	0.12908	0.036000	0.12997	0.626000	0.24492	0.401000	0.25424	-0.371000	0.07208	CGG		0.662	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		21	137	0	0	0	1	0	21	137					A	30327309	G	A	30327309	3	1	79	1	0	0	0	0	1	0	0	0	10655	1086	38	1	1248	1	NR0B1	23	30327309	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	66084	30327309	124943251	21276	31593											
CXorf21	80231	broad.mit.edu	37	chrX	30577645	30577645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttcagttgacatcaattgCaataggcggctaaagactat	8	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30577645C>T	ENST00000378962.3	-	3	1150	c.828G>A	c.(826-828)ttG>ttA	p.L276L		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	276										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACATCAATTGCAATAGGCGGC	0.388																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(826-828)ttG>ttA		chromosome X open reading frame 21							77	68	71					X																	30577645		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577645C>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.828G>A	X.37:g.30577645C>T							p.L276L	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	1150	-			276						Silent	SNP	ENST00000378962.3	37	c.828G>A	CCDS14224.1																																																																																				0.388	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		69	288	0	0	0	1	0	69	288					T	30577645	C	T	30577645	2	4	79	1	0	0	0	0	0	0	0	1	4112	709	25	2		2	CXorf21	23	30577645	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	250336	30577645	124692915	21277	31594											
GK	2710	broad.mit.edu	37	chrX	30686168	30686168	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaggaaattctacattctgtCtatgagtgtatagagaaaac	8	5	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30686168C>T	ENST00000378941.3	+	3	192	c.192C>T	c.(190-192)gtC>gtT	p.V64V	GK_ENST00000378943.3_Silent_p.V64V|GK_ENST00000378945.3_Silent_p.V64V|GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR			P32189	GLPK_HUMAN	glycerol kinase	64					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						TACATTCTGTCTATGAGTGTA	0.313																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(190-192)gtC>gtT		glycerol kinase							68	59	62					X																	30686168		2202	4293	6495	SO:0001819	synonymous_variant	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30686168C>T	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.192C>T	X.37:g.30686168C>T						GK_ENST00000378946.3_Silent_p.V64V|GK_ENST00000427190.1_5'UTR|GK_ENST00000378941.3_Silent_p.V64V|GK_ENST00000378945.3_Silent_p.V64V	p.V64V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			3	371	+			64					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Silent	SNP	ENST00000378941.3	37	c.192C>T																																																																																					0.313	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	NM_000167		40	158	0	0	0	1	0	40	158					T	30686168	C	T	30686168	2	4	79	1	0	0	0	0	0	0	0	1	6449	900	32	2		2	GK	23	30686168	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	108523	30686168	124584392	21278	31595											
TAB3	257397	broad.mit.edu	37	chrX	30872954	30872954	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgggagaatactgagaaggCtgatagttctgttggtgtgg	16	3	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30872954C>A	ENST00000378933.1	-	3	1005	c.828G>T	c.(826-828)caG>caT	p.Q276H	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	276	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTGAGAAGGCTGATAGTTCT	0.522																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(826-828)caG>caT		TGF-beta activated kinase 1/MAP3K7 binding protein 3							111	86	95					X																	30872954		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872954C>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.828G>T	X.37:g.30872954C>A	ENSP00000368215:p.Gln276His					TAB3_ENST00000288422.2_Missense_Mutation_p.Q276H|TAB3_ENST00000378930.3_Missense_Mutation_p.Q276H|TAB3_ENST00000378932.2_Missense_Mutation_p.Q276H	p.Q276H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	1005	-			276			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.828G>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.615977	0.28801	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78816	-1.03;-1.03;-1.03;-1.21	4.92	-5.93	0.02254	.	0.000000	0.64402	D	0.000002	T	0.79610	0.4475	L	0.32530	0.975	0.36471	D	0.867261	D;D	0.64830	0.994;0.99	D;D	0.75484	0.986;0.969	T	0.80498	-0.1356	10	0.72032	D	0.01	-3.0975	18.21	0.89867	0.0:0.6435:0.0:0.3565	.	276;276	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	276	ENSP00000368215:Q276H;ENSP00000368212:Q276H;ENSP00000288422:Q276H;ENSP00000368214:Q276H	ENSP00000288422:Q276H	Q	-	3	2	TAB3	30782875	0.004000	0.15560	0.809000	0.32408	0.390000	0.30446	-1.953000	0.01526	-1.819000	0.01216	-0.415000	0.06103	CAG		0.522	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		26	140	1	0	4.22769e-11	1	4.50498e-11	26	140					A	30872954	C	A	30872954	3	1	79	1	0	0	0	0	1	0	0	0	15549	796	28	3	1334	3	TAB3	23	30872954	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	186786	30872954	124397606	21279	31596											
FTHL17	53940	broad.mit.edu	37	chrX	31089968	31089968	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaggccatagacaggtAcaggtaggaggtgtagagct	16	5	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31089968A>G	ENST00000359202.3	-	1	202	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	35	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.Y35N(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATAGACAGGTACAGGTAGGAG	0.607																																						ENST00000359202.3																			2	Substitution - Missense(2)	p.Y35N(2)	liver(2)	endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(103-105)Tac>Cac		ferritin, heavy polypeptide-like 17							84	74	77					X																	31089968		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089968A>G	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.103T>C	X.37:g.31089968A>G	ENSP00000368207:p.Tyr35His						p.Y35H	NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN			1	202	-			35			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.103T>C	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648995	0.47362	.	.	ENSG00000132446	ENST00000359202	D	0.86097	-2.07	3.55	-0.386	0.12466	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.142334	0.48767	D	0.000174	D	0.92851	0.7726	H	0.96720	3.87	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84279	0.0493	10	0.87932	D	0	.	5.025	0.14379	0.4797:0.3485:0.0:0.1717	.	35	Q9BXU8	FHL17_HUMAN	H	35	ENSP00000368207:Y35H	ENSP00000368207:Y35H	Y	-	1	0	FTHL17	30999889	0.519000	0.26242	0.000000	0.03702	0.074000	0.17049	4.060000	0.57477	-0.165000	0.10908	0.437000	0.28790	TAC		0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		51	423	0	0	0	1	0	51	423					G	31089968	A	G	31089968	3	3	79	1	0	0	0	0	1	0	0	0	6110	391	14	4	452	4	FTHL17	23	31089968	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	217014	31089968	124180592	21280	31597											
DMD	1756	broad.mit.edu	37	chrX	31525440	31525440	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcactccacttgaagTtcatgttatccaaacgtctt	6	10	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31525440T>G	ENST00000357033.4	-	56	8554	c.8348A>C	c.(8347-8349)aAc>aCc	p.N2783T	DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000378707.3_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000359836.1_Missense_Mutation_p.N323T	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	2783					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)				CCACTTGAAGTTCATGTTATC	0.398																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(8347-8349)aAc>aCc		dystrophin							190	155	167					X																	31525440		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31525440T>G	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.8348A>C	X.37:g.31525440T>G	ENSP00000354923:p.Asn2783Thr					DMD_ENST00000541735.1_Missense_Mutation_p.N323T|DMD_ENST00000359836.1_Missense_Mutation_p.N323T|DMD_ENST00000378677.2_Missense_Mutation_p.N2779T|DMD_ENST00000343523.2_Missense_Mutation_p.N323T|DMD_ENST00000474231.1_Missense_Mutation_p.N323T|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.N323T	p.N2783T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			56	8554	-		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)	2783					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.8348A>C	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.78|12.78	2.042040|2.042040	0.35989|0.35989	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	.|T;T;T;T;T;T;T;T	.|0.55930	.|0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.39985	.|U	.|0.001213	T|T	0.71459|0.71459	0.3342|0.3342	M|M	0.78049|0.78049	2.395|2.395	0.42535|0.42535	D|D	0.993054|0.993054	.|B;P;D;B;B;P;P;P;B;B;P	.|0.65815	.|0.216;0.476;0.995;0.145;0.145;0.659;0.553;0.553;0.077;0.063;0.729	.|B;B;D;B;B;P;P;P;B;B;B	.|0.64506	.|0.31;0.1;0.926;0.111;0.111;0.607;0.466;0.466;0.063;0.037;0.413	T|T	0.74884|0.74884	-0.3512|-0.3512	5|10	.|0.52906	.|T	.|0.07	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|2775;2783;2779;1442;1439;323;323;323;323;323;2660	.|P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.|.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	D|T	511|2775;1442;1439;479;2779;2783;323;323;2783;2660;323;323;323	.|ENSP00000350765:N479T;ENSP00000367948:N2779T;ENSP00000354923:N2783T;ENSP00000352894:N323T;ENSP00000340057:N323T;ENSP00000367979:N323T;ENSP00000444119:N323T;ENSP00000417123:N323T	.|ENSP00000340057:N323T	E|N	-|-	3|2	2|0	DMD|DMD	31435361|31435361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.839000|3.839000	0.55835|0.55835	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	GAA|AAC		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		77	205	0	0	0	1	0	77	205					G	31525440	T	G	31525440	3	3	79	1	0	0	0	0	1	0	0	0	4596	1725	60	4	2919	4	DMD	23	31525440	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	435472	31525440	123745120	21281	31598											
DMD	1756	broad.mit.edu	37	chrX	32827617	32827617	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttaccaaccttcaggAtcgagtagtttctctatgcc	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32827617A>G	ENST00000357033.4	-	7	848	c.642T>C	c.(640-642)gaT>gaC	p.D214D	DMD_ENST00000378677.2_Silent_p.D210D|DMD_ENST00000288447.4_Silent_p.D206D	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	214	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACCTTCAGGATCGAGTAGTT	0.393																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(640-642)gaT>gaC		dystrophin							170	128	142					X																	32827617		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32827617A>G	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.642T>C	X.37:g.32827617A>G						DMD_ENST00000288447.4_Silent_p.D206D|DMD_ENST00000378677.2_Silent_p.D210D	p.D214D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			7	848	-		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)	214			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.642T>C	CCDS14233.1																																																																																				0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		68	233	0	0	0	1	0	68	233					G	32827617	A	G	32827617	2	3	79	1	0	0	0	0	0	0	0	1	4596	330	12	4		4	DMD	23	32827617	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1302177	32827617	122442943	21282	31599											
DMD	1756	broad.mit.edu	37	chrX	32834629	32834629	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaagccaggccatcagaccaGctggtggtgaagttgattac	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32834629G>T	ENST00000357033.4	-	6	692	c.486C>A	c.(484-486)agC>agA	p.S162R	DMD_ENST00000378677.2_Missense_Mutation_p.S158R|DMD_ENST00000288447.4_Missense_Mutation_p.S154R	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	162	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATCAGACCAGCTGGTGGTGA	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(484-486)agC>agA		dystrophin							147	126	133					X																	32834629		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32834629G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.486C>A	X.37:g.32834629G>T	ENSP00000354923:p.Ser162Arg					DMD_ENST00000288447.4_Missense_Mutation_p.S154R|DMD_ENST00000378677.2_Missense_Mutation_p.S158R	p.S162R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			6	692	-		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)	162			Actin-binding.|CH 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.486C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740766	0.69304	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.95342	-3.68;-3.68;-3.68	5.51	3.75	0.43078	Calponin homology domain (5);	0.000000	0.44285	U	0.000464	D	0.97873	0.9301	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;0.998;1.0	P;D;D;D;D	0.91635	0.89;0.959;0.999;0.977;0.999	D	0.96914	0.9669	10	0.87932	D	0	.	9.1509	0.36962	0.2268:0.0:0.7732:0.0	.	162;154;154;162;158	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	R	154;158;162;162;39;154	ENSP00000367948:S158R;ENSP00000354923:S162R;ENSP00000288447:S154R	ENSP00000288447:S154R	S	-	3	2	DMD	32744550	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.819000	0.69243	0.515000	0.28320	-0.912000	0.02778	AGC		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		123	299	1	0	5.38838e-72	1	6.85269e-72	123	299					T	32834629	G	T	32834629	3	4	79	1	0	0	0	0	1	0	0	0	4596	962	34	3	11110	3	DMD	23	32834629	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7012	32834629	122435931	21283	31600											
DMD	1756	broad.mit.edu	37	chrX	32841471	32841471	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtttatgatttccatctaCgatgtcagtacttccaatat	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32841471C>T	ENST00000357033.4	-	5	504	c.298G>A	c.(298-300)Gta>Ata	p.V100I	DMD_ENST00000378677.2_Missense_Mutation_p.V96I|DMD_ENST00000288447.4_Missense_Mutation_p.V92I	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	100	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCATCTACGATGTCAGTA	0.343																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(298-300)Gta>Ata		dystrophin							156	145	149					X																	32841471		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32841471C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.298G>A	X.37:g.32841471C>T	ENSP00000354923:p.Val100Ile					DMD_ENST00000288447.4_Missense_Mutation_p.V92I|DMD_ENST00000378677.2_Missense_Mutation_p.V96I	p.V100I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			5	504	-		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)	100			Actin-binding.|CH 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.298G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931665	0.92389	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.68	5.68	0.88126	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.33457	U	0.004883	D	0.97723	0.9253	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	0.997;0.996;1.0;0.997	P;P;D;P	0.85130	0.732;0.612;0.997;0.732	D	0.98391	1.0563	10	0.87932	D	0	.	18.8699	0.92309	0.0:1.0:0.0:0.0	.	92;92;100;96	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	I	92;96;100;100;92;63	ENSP00000367948:V96I;ENSP00000354923:V100I;ENSP00000288447:V92I;ENSP00000395904:V63I	ENSP00000288447:V92I	V	-	1	0	DMD	32751392	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.487000	0.81328	2.403000	0.81681	0.523000	0.50628	GTA		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		86	298	0	0	0	1	0	86	298					T	32841471	C	T	32841471	3	4	79	1	0	0	0	0	1	0	0	0	4596	536	19	1	11302	1	DMD	23	32841471	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6842	32841471	122429089	21284	31601											
FAM47B	170062	broad.mit.edu	37	chrX	34961295	34961295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtacagccagcacggaaggCgttcgtagaggaagtggaag	16	7	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961295C>T	ENST00000329357.5	+	1	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	116										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCACGGAAGGCGTTCGTAGAG	0.542																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(346-348)gCg>gTg		family with sequence similarity 47, member B							91	83	86					X																	34961295		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961295C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.347C>T	X.37:g.34961295C>T	ENSP00000328307:p.Ala116Val						p.A116V	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	383	+			116					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.347C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	8.314	0.822692	0.16678	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	0.843	0.18935	.	.	.	.	.	T	0.14917	0.0360	L	0.38953	1.18	0.09310	N	1	B	0.23891	0.093	B	0.14578	0.011	T	0.21177	-1.0253	9	0.45353	T	0.12	.	7.2872	0.26346	0.0:0.9999:0.0:1.0E-4	.	116	Q8NA70	FA47B_HUMAN	V	116	ENSP00000328307:A116V	ENSP00000328307:A116V	A	+	2	0	FAM47B	34871216	0.002000	0.14202	0.016000	0.15963	0.006000	0.05464	0.074000	0.14662	0.695000	0.31675	0.292000	0.19580	GCG		0.542	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		106	371	0	0	0	1	0	106	371					T	34961295	C	T	34961295	3	4	79	1	0	0	0	0	1	0	0	0	5595	768	27	1	349	1	FAM47B	23	34961295	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2119824	34961295	120309265	21285	31602											
FAM47B	170062	broad.mit.edu	37	chrX	34961432	34961432	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaggaagctggaggacGcttgggctcgttgtgaggcc	18	9	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961432G>A	ENST00000329357.5	+	1	520	c.484G>A	c.(484-486)Gct>Act	p.A162T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	162										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGAGGACGCTTGGGCTCG	0.587																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(484-486)Gct>Act		family with sequence similarity 47, member B							47	42	44					X																	34961432		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961432G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.484G>A	X.37:g.34961432G>A	ENSP00000328307:p.Ala162Thr						p.A162T	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	520	+			162					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.484G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.570869	0.00133	.	.	ENSG00000189132	ENST00000329357	T	0.20069	2.1	0.843	-1.69	0.08186	.	.	.	.	.	T	0.08403	0.0209	N	0.17922	0.545	0.09310	N	1	B	0.18741	0.03	B	0.16722	0.016	T	0.38499	-0.9658	9	0.02654	T	1	.	2.5263	0.04692	0.3189:0.0:0.4299:0.2512	.	162	Q8NA70	FA47B_HUMAN	T	162	ENSP00000328307:A162T	ENSP00000328307:A162T	A	+	1	0	FAM47B	34871353	0.008000	0.16893	0.007000	0.13788	0.001000	0.01503	-0.704000	0.05058	-1.178000	0.02741	-1.891000	0.00535	GCT		0.587	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		54	189	0	0	0	1	0	54	189					A	34961432	G	A	34961432	3	1	79	1	0	0	0	0	1	0	0	0	5595	1087	38	1	486	1	FAM47B	23	34961432	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	137	34961432	120309128	21286	31603											
MAGEB16	139604	broad.mit.edu	37	chrX	35820491	35820491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctgctaaggcagagAgtcctcttgaggttcctcag	11	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820491A>C	ENST00000399989.1	+	2	457	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(178-180)Agt>Cgt		melanoma antigen family B, 16							46	44	45					X																	35820491		1955	4120	6075	SO:0001583	missense	139604							g.chrX:35820491A>C		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.178A>C	X.37:g.35820491A>C	ENSP00000382871:p.Ser60Arg					MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92R|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60R|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60R	p.S60R	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	457	+			60					A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.178A>C	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	A	8.872	0.949479	0.18356	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	3.13	1.92	0.25849	Melanoma associated antigen, MAGE, N-terminal (1);	2.483160	0.01875	N	0.037471	T	0.13372	0.0324	L	0.53561	1.675	0.09310	N	1	B	0.32324	0.364	B	0.37943	0.261	T	0.30387	-0.9980	10	0.56958	D	0.05	.	5.7376	0.18075	0.7239:0.2761:0.0:0.0	.	60	A2A368	MAGBG_HUMAN	R	60;92;60;60;60	ENSP00000382870:S60R;ENSP00000382874:S92R;ENSP00000382869:S60R;ENSP00000382871:S60R;ENSP00000382867:S60R	ENSP00000382867:S60R	S	+	1	0	MAGEB16	35730412	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.012000	0.12699	0.444000	0.26612	0.423000	0.28283	AGT		0.532	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			18	65	0	0	0	1	0	18	65					C	35820491	A	C	35820491	3	2	79	1	0	0	0	0	1	0	0	0	9215	304	11	4	180	4	MAGEB16	23	35820491	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	859059	35820491	119450069	21287	31604											
MAGEB16	139604	broad.mit.edu	37	chrX	35820969	35820969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcatgaagggcaaccGtgccactgaagaggaagtct	12	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820969G>A	ENST00000399989.1	+	2	935	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	219	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGGCAACCGTGCCACTGAA	0.507																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(655-657)cGt>cAt		melanoma antigen family B, 16							87	83	84					X																	35820969		2188	4294	6482	SO:0001583	missense	139604							g.chrX:35820969G>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.656G>A	X.37:g.35820969G>A	ENSP00000382871:p.Arg219His					MAGEB16_ENST00000399985.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399992.1_Missense_Mutation_p.R251H|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R219H|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R219H	p.R219H	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	935	+			219			MAGE.		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.656G>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	G	5.467	0.271307	0.10349	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	3.13	1.28	0.21552	.	1.580770	0.03543	N	0.224295	T	0.04452	0.0122	L	0.41236	1.265	0.23036	N	0.998394	B	0.29531	0.247	B	0.25291	0.059	T	0.42732	-0.9434	10	0.12766	T	0.61	.	3.3475	0.07141	0.1447:0.0:0.6028:0.2526	.	219	A2A368	MAGBG_HUMAN	H	219;251;219;219;219	ENSP00000382870:R219H;ENSP00000382874:R251H;ENSP00000382869:R219H;ENSP00000382871:R219H;ENSP00000382867:R219H	ENSP00000382867:R219H	R	+	2	0	MAGEB16	35730890	0.000000	0.05858	0.836000	0.33094	0.001000	0.01503	-0.306000	0.08178	0.225000	0.20959	-0.367000	0.07326	CGT		0.507	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			68	193	0	0	0	1	0	68	193					A	35820969	G	A	35820969	3	1	79	1	0	0	0	0	1	0	0	0	9215	1145	40	1	658	1	MAGEB16	23	35820969	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	478	35820969	119449591	21288	31605											
CXorf22	170063	broad.mit.edu	37	chrX	35969425	35969425	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtatacaataatagcccagaGcccataaattgggtggccat	9	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35969425G>T	ENST00000297866.5	+	5	900	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	278										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						ATAGCCCAGAGCCCATAAATT	0.413																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(832-834)gaG>gaT		chromosome X open reading frame 22							56	50	52					X																	35969425		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35969425G>T	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.834G>T	X.37:g.35969425G>T	ENSP00000297866:p.Glu278Asp						p.E278D	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			5	900	+			278					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.834G>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600097	0.28534	.	.	ENSG00000165164	ENST00000297866	T	0.15603	2.41	5.76	3.29	0.37713	.	0.485709	0.24033	N	0.042164	T	0.17746	0.0426	M	0.62723	1.935	0.23594	N	0.997333	P	0.41080	0.737	P	0.45167	0.472	T	0.08576	-1.0715	10	0.18710	T	0.47	-30.4234	3.1986	0.06641	0.547:0.0:0.2782:0.1748	.	278	Q6ZTR5	CX022_HUMAN	D	278	ENSP00000297866:E278D	ENSP00000297866:E278D	E	+	3	2	CXorf22	35879346	0.979000	0.34478	0.688000	0.30117	0.437000	0.31866	2.190000	0.42630	0.807000	0.34208	-0.503000	0.04515	GAG		0.413	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		41	129	1	0	1.07121e-22	1	1.21384e-22	41	129					T	35969425	G	T	35969425	3	4	79	1	0	0	0	0	1	0	0	0	4113	962	34	3	852	3	CXorf22	23	35969425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	148456	35969425	119301135	21289	31606											
CXorf22	170063	broad.mit.edu	37	chrX	35989849	35989849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcgattgttaaccaccaGgggtatagcatctcaggagg	12	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35989849G>A	ENST00000297866.5	+	12	2183	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	706										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						TTAACCACCAGGGGTATAGCA	0.423																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2116-2118)aGg>aAg		chromosome X open reading frame 22							56	50	52					X																	35989849		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989849G>A	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.2117G>A	X.37:g.35989849G>A	ENSP00000297866:p.Arg706Lys						p.R706K	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			12	2183	+			706					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2117G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	5.452	0.268478	0.10349	.	.	ENSG00000165164	ENST00000297866	T	0.13196	2.61	5.84	-2.93	0.05598	.	0.684196	0.15211	N	0.274441	T	0.08088	0.0202	L	0.45581	1.43	0.09310	N	1	B	0.23377	0.084	B	0.18561	0.022	T	0.46261	-0.9204	10	0.02654	T	1	-2.1449	7.5875	0.28002	0.5459:0.1236:0.3305:0.0	.	706	Q6ZTR5	CX022_HUMAN	K	706	ENSP00000297866:R706K	ENSP00000297866:R706K	R	+	2	0	CXorf22	35899770	0.211000	0.23529	0.000000	0.03702	0.000000	0.00434	0.330000	0.19715	-0.666000	0.05310	-0.191000	0.12829	AGG		0.423	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		15	296	0	0	0	1	0	15	296					A	35989849	G	A	35989849	3	1	79	1	0	0	0	0	1	0	0	0	4113	1000	35	2	2163	2	CXorf22	23	35989849	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	20424	35989849	119280711	21290	31607											
CXorf22	170063	broad.mit.edu	37	chrX	35993429	35993429	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgattctacctacatccaGtacttatatttcaatggtat	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35993429G>A	ENST00000297866.5	+	14	2486	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	807										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						CCTACATCCAGTACTTATATT	0.333																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2419-2421)aGt>aAt		chromosome X open reading frame 22							92	84	87					X																	35993429		2201	4294	6495	SO:0001583	missense	170063							g.chrX:35993429G>A	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.2420G>A	X.37:g.35993429G>A	ENSP00000297866:p.Ser807Asn						p.S807N	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			14	2486	+			807					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2420G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717373	0.03182	.	.	ENSG00000165164	ENST00000297866	T	0.14391	2.51	5.3	0.859	0.19036	.	0.769651	0.13053	N	0.417491	T	0.12050	0.0293	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.32161	-0.9917	10	0.27785	T	0.31	-8.6299	4.7877	0.13232	0.3926:0.1574:0.45:0.0	.	807	Q6ZTR5	CX022_HUMAN	N	807	ENSP00000297866:S807N	ENSP00000297866:S807N	S	+	2	0	CXorf22	35903350	1.000000	0.71417	0.043000	0.18650	0.022000	0.10575	1.390000	0.34464	0.088000	0.17205	0.544000	0.68410	AGT		0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		54	217	0	0	0	1	0	54	217					A	35993429	G	A	35993429	3	1	79	1	0	0	0	0	1	0	0	0	4113	1029	36	2	2474	2	CXorf22	23	35993429	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3580	35993429	119277131	21291	31608											
CXorf59	286464	broad.mit.edu	37	chrX	36083821	36083821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactatttacccatatatgGcaattcatctggataagcaa	5	8	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:36083821G>A	ENST00000313548.4	+	2	190	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	2						integral component of membrane (GO:0016021)											CCCATATATGGCAATTCATCT	0.323																																						ENST00000378660.1																			0											c.(4-6)Gca>Aca		calponin homology domain containing 2							76	66	70					X																	36083821		2201	4297	6498	SO:0001583	missense	286464							g.chrX:36083821G>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.4G>A	X.37:g.36083821G>A	ENSP00000324767:p.Ala2Thr					CHDC2_ENST00000313548.4_Missense_Mutation_p.A2T	p.A2T							2	192	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.4G>A	CCDS14238.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.88|12.88	2.071943|2.071943	0.36566|0.36566	.|.	.|.	ENSG00000176034|ENSG00000176034	ENST00000378660;ENST00000313548|ENST00000449698;ENST00000397458	.|.	.|.	.|.	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	0.200102|.	0.24818|.	N|.	0.035360|.	T|.	0.38480|.	0.1042|.	N|N	0.19112|0.19112	0.55|0.55	0.24486|0.24486	N|N	0.994329|0.994329	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|.	0.40270|.	-0.9572|.	9|.	0.87932|0.87932	D|D	0|0	-7.1406|-7.1406	14.5859|14.5859	0.68322|0.68322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2|.	Q8N9S7|.	CX059_HUMAN|.	T|X	2|146	.|.	ENSP00000324767:A2T|ENSP00000380599:W146X	A|W	+|+	1|3	0|0	CXorf59|CXorf59	35993742|35993742	1.000000|1.000000	0.71417|0.71417	0.499000|0.499000	0.27577|0.27577	0.457000|0.457000	0.32468|0.32468	4.584000|4.584000	0.60971|0.60971	2.113000|2.113000	0.64589|0.64589	0.600000|0.600000	0.82982|0.82982	GCA|TGG		0.323	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		26	119	0	0	0	1	0	26	119					A	36083821	G	A	36083821	3	1	79	1	0	0	0	0	1	0	0	0	4126	1203	42	2	6	2	CXorf59	23	36083821	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90392	36083821	119186739	21292	31609											
FAM47C	442444	broad.mit.edu	37	chrX	37028071	37028071	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcccagagcctcccaagattCtggtgtccagtctccaccag	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37028071C>T	ENST00000358047.3	+	1	1640	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	530										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						TCCCAAGATTCTGGTGTCCAG	0.617																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1588-1590)Ctg>Ttg		family with sequence similarity 47, member C							84	83	84					X																	37028071		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37028071C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1588C>T	X.37:g.37028071C>T							p.L530L	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1640	+			530					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1588C>T	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		174	493	0	0	0	1	0	174	493					T	37028071	C	T	37028071	2	4	79	1	0	0	0	0	0	0	0	1	5596	912	32	2		2	FAM47C	23	37028071	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	944250	37028071	118242489	21293	31610											
SYTL5	94122	broad.mit.edu	37	chrX	37932929	37932929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgctgggaagaaggccagcCatgatgggcccaagagaaag	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37932929C>T	ENST00000357972.5	+	5	1078	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	SYTL5_ENST00000297875.2_Missense_Mutation_p.H178Y|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.H178Y			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	178					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GAAGGCCAGCCATGATGGGCC	0.448																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(532-534)Cat>Tat		synaptotagmin-like 5							58	47	51					X																	37932929		2200	4300	6500	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37932929C>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.532C>T	X.37:g.37932929C>T	ENSP00000350657:p.His178Tyr					SYTL5_ENST00000297875.2_Missense_Mutation_p.H178Y|SYTL5_ENST00000456733.2_Missense_Mutation_p.H178Y|TM4SF2_ENST00000465127.1_Intron	p.H178Y			Q8TDW5	SYTL5_HUMAN			5	1078	+			178					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.532C>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	7.843	0.722295	0.15372	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.21361	2.01;2.01;2.35	5.66	4.79	0.61399	.	0.790281	0.12375	N	0.474423	T	0.16854	0.0405	L	0.54323	1.7	0.09310	N	1	B;B	0.31910	0.346;0.07	B;B	0.25291	0.059;0.008	T	0.27054	-1.0085	10	0.02654	T	1	-10.5719	10.7052	0.45950	0.0:0.9079:0.0:0.092	.	178;178	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	Y	178	ENSP00000297875:H178Y;ENSP00000350657:H178Y;ENSP00000395220:H178Y	ENSP00000297875:H178Y	H	+	1	0	SYTL5	37817873	0.587000	0.26791	0.568000	0.28447	0.699000	0.40488	3.707000	0.54838	1.140000	0.42260	0.594000	0.82650	CAT		0.448	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		5	39	0	0	0	1	0	5	39					T	37932929	C	T	37932929	3	4	79	1	0	0	0	0	1	0	0	0	15538	594	21	2	546	2	SYTL5	23	37932929	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	904858	37932929	117337631	21294	31611											
SYTL5	94122	broad.mit.edu	37	chrX	37969635	37969635	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gctctcagtctggcactatgAtcgatttggacgtaatagct	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37969635A>C	ENST00000357972.5	+	13	2042	c.1496A>C	c.(1495-1497)gAt>gCt	p.D499A	SYTL5_ENST00000297875.2_Missense_Mutation_p.D499A|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.D521A			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	499	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGCACTATGATCGATTTGGA	0.448																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(1495-1497)gAt>gCt		synaptotagmin-like 5							159	128	138					X																	37969635		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37969635A>C		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1496A>C	X.37:g.37969635A>C	ENSP00000350657:p.Asp499Ala					SYTL5_ENST00000297875.2_Missense_Mutation_p.D499A|SYTL5_ENST00000456733.2_Missense_Mutation_p.D521A|TM4SF2_ENST00000465127.1_Intron	p.D499A			Q8TDW5	SYTL5_HUMAN			13	2042	+			499			C2 1.		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.1496A>C	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.565260	0.86439	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.12984	2.63;2.63;2.63	5.79	5.79	0.91817	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	0.49029	0.1533	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.979	T	0.63088	-0.6715	10	0.87932	D	0	-8.2787	15.109	0.72340	1.0:0.0:0.0:0.0	.	521;499	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	A	499;499;521	ENSP00000297875:D499A;ENSP00000350657:D499A;ENSP00000395220:D521A	ENSP00000297875:D499A	D	+	2	0	SYTL5	37854579	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.122000	0.77169	1.951000	0.56629	0.430000	0.28490	GAT		0.448	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		101	283	0	0	0	1	0	101	283					C	37969635	A	C	37969635	3	2	79	1	0	0	0	0	1	0	0	0	15538	333	12	4	1612	4	SYTL5	23	37969635	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	36706	37969635	117300925	21295	31612											
SRPX	8406	broad.mit.edu	37	chrX	38020292	38020292	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttggagcctggggggagGccttttagaatgacacttag	15	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38020292G>A	ENST00000378533.3	-	6	775	c.669C>T	c.(667-669)ggC>ggT	p.G223G	SRPX_ENST00000343800.6_Silent_p.G210G|SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000479015.1_5'Flank|SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000432886.2_Silent_p.G164G|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	223	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGGGGGGAGGCCTTTTAGAA	0.438																																						ENST00000378533.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(667-669)ggC>ggT		sushi-repeat containing protein, X-linked							69	63	65					X																	38020292		2202	4299	6501	SO:0001819	synonymous_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38020292G>A	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.669C>T	X.37:g.38020292G>A						SRPX_ENST00000544439.1_Silent_p.G203G|SRPX_ENST00000538295.1_Silent_p.G223G|SRPX_ENST00000432886.2_Silent_p.G164G|SRPX_ENST00000343800.6_Silent_p.G210G|TM4SF2_ENST00000465127.1_Intron	p.G223G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			6	775	-			223			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	37	c.669C>T	CCDS14245.1																																																																																				0.438	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		36	296	0	0	0	1	0	36	296					A	38020292	G	A	38020292	2	1	79	1	0	0	0	0	0	0	0	1	15216	1190	42	2		2	SRPX	23	38020292	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	50657	38020292	117250268	21296	31613											
MID1IP1	58526	broad.mit.edu	37	chrX	38664233	38664233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgacacctacaaccagaagCactcgctctttaacgccatg	7	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38664233C>T	ENST00000336949.6	+	2	979	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y|MID1IP1-AS1_ENST00000436893.1_RNA	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	12					lipid metabolic process (GO:0006629)|negative regulation of microtubule depolymerization (GO:0007026)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of ligase activity (GO:0051351)|protein polymerization (GO:0051258)|regulation of lipid biosynthetic process (GO:0046890)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CAACCAGAAGCACTCGCTCTT	0.627																																						ENST00000336949.6																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(34-36)Cac>Tac		MID1 interacting protein 1							121	82	95					X																	38664233		2202	4300	6502	SO:0001583	missense	58526				lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		g.chrX:38664233C>T		CCDS14249.1	Xp11.4	2012-02-23	2012-02-23		ENSG00000165175	ENSG00000165175			20715	protein-coding gene	gene with protein product	"gastrulation specific G12 homolog (zebrafish)"		"MID1 interacting protein 1 (gastrulation specific G12-like (zebrafish))"				Standard	NM_001098790		Approved	STRAIT11499, FLJ10386, MIG12, THRSPL, G12-like	uc010ngz.3	Q9NPA3	OTTHUMG00000024092	ENST00000336949.6:c.34C>T	X.37:g.38664233C>T	ENSP00000338706:p.His12Tyr					MID1IP1_ENST00000378474.3_Missense_Mutation_p.H12Y|MID1IP1_ENST00000457894.1_Missense_Mutation_p.H12Y	p.H12Y	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN			2	979	+			12					D3DWB2	Missense_Mutation	SNP	ENST00000336949.6	37	c.34C>T	CCDS14249.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138881	0.37728	.	.	ENSG00000165175	ENST00000457894;ENST00000378474;ENST00000336949	.	.	.	4.57	4.57	0.56435	.	0.194465	0.42172	D	0.000750	T	0.50837	0.1639	L	0.29908	0.895	0.45390	D	0.998374	B	0.22080	0.064	B	0.18263	0.021	T	0.49173	-0.8967	9	0.40728	T	0.16	-8.7866	15.3016	0.73955	0.0:1.0:0.0:0.0	.	12	Q9NPA3	M1IP1_HUMAN	Y	12	.	ENSP00000338706:H12Y	H	+	1	0	MID1IP1	38549177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.475000	0.60210	2.116000	0.64780	0.529000	0.55759	CAC		0.627	MID1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060655.1			42	196	0	0	0	1	0	42	196					T	38664233	C	T	38664233	3	4	79	1	0	0	0	0	1	0	0	0	9618	710	25	2	36	2	MID1IP1	23	38664233	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	643941	38664233	116606327	21297	31614											
BCOR	54880	broad.mit.edu	37	chrX	39931785	39931785	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcagctccatctttggtataGgtgggggtcacatccacact	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39931785G>T	ENST00000378444.4	-	4	3042	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000342274.4_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	938					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)	p.Y939fs*7(1)		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						CTTTGGTATAGGTGGGGGTCA	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		1	Insertion - Frameshift(1)	p.Y939fs*7(1)	haematopoietic_and_lymphoid_tissue(1)	breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2812-2814)acC>acA		BCL6 corepressor							72	57	62					X																	39931785		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39931785G>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2814C>A	X.37:g.39931785G>T						BCOR_ENST00000378444.4_Silent_p.T938T|BCOR_ENST00000397354.3_Silent_p.T938T|BCOR_ENST00000378455.4_Silent_p.T938T	p.T938T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	3176	-			938					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.2814C>A	CCDS48093.1																																																																																				0.507	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		28	208	1	0	4.87955e-14	1	5.28594e-14	28	208					T	39931785	G	T	39931785	2	4	79	1	0	0	0	0	0	0	0	1	1387	987	35	3		3	BCOR	23	39931785	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1267552	39931785	115338775	21298	31615											
MED14	9282	broad.mit.edu	37	chrX	40522271	40522271	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtaactacctgccaggCcgggcacaaggcctggagtt	13	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40522271C>T	ENST00000324817.1	-	26	3708	c.3590G>A	c.(3589-3591)gGc>gAc	p.G1197D		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1197					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						ACCTGCCAGGCCGGGCACAAG	0.498																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3589-3591)gGc>gAc		mediator complex subunit 14							102	81	88					X																	40522271		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40522271C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3590G>A	X.37:g.40522271C>T	ENSP00000323720:p.Gly1197Asp						p.G1197D	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			26	3708	-			1197					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.3590G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009936	0.54361	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	T;T	0.54071	0.59;0.59	5.59	5.59	0.84812	.	0.048785	0.85682	D	0.000000	T	0.47838	0.1467	L	0.36672	1.1	0.80722	D	1	P;P	0.45348	0.856;0.856	B;B	0.43623	0.425;0.425	T	0.52403	-0.8580	10	0.66056	D	0.02	.	14.2586	0.66070	0.0:0.8553:0.1447:0.0	.	1197;1197	A8KAK5;O60244	.;MED14_HUMAN	D	1197;96	ENSP00000323720:G1197D;ENSP00000411357:G96D	ENSP00000323720:G1197D	G	-	2	0	MED14	40407215	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.696000	0.68287	2.353000	0.79882	0.529000	0.55759	GGC		0.498	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		30	112	0	0	0	1	0	30	112					T	40522271	C	T	40522271	3	4	79	1	0	0	0	0	1	0	0	0	9473	739	26	2	798	2	MED14	23	40522271	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	590486	40522271	114748289	21299	31616											
MED14	9282	broad.mit.edu	37	chrX	40586068	40586068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatcgaacgaagagttggCgtgtccggctagcaaactgc	12	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40586068C>T	ENST00000324817.1	-	3	396	c.278G>A	c.(277-279)cGc>cAc	p.R93H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	93					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						GAAGAGTTGGCGTGTCCGGCT	0.323																																						ENST00000324817.1																			0				NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(277-279)cGc>cAc		mediator complex subunit 14							50	46	48					X																	40586068		2203	4300	6503	SO:0001583	missense	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40586068C>T	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.278G>A	X.37:g.40586068C>T	ENSP00000323720:p.Arg93His						p.R93H	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN			3	396	-			93					Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	c.278G>A	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573841	0.86542	.	.	ENSG00000180182	ENST00000324817	.	.	.	4.98	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77205	-0.2673	9	0.54805	T	0.06	.	12.429	0.55563	0.0:0.9145:0.0:0.0855	.	93	O60244	MED14_HUMAN	H	93	.	ENSP00000323720:R93H	R	-	2	0	MED14	40471012	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.314000	0.78988	0.993000	0.38866	-0.268000	0.10319	CGC		0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229		36	172	0	0	0	1	0	36	172					T	40586068	C	T	40586068	3	4	79	1	0	0	0	0	1	0	0	0	9473	768	27	1	4202	1	MED14	23	40586068	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	63797	40586068	114684492	21300	31617											
USP9X	8239	broad.mit.edu	37	chrX	41000309	41000309	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggttccacagtttttagaAaacttaactgatgaagaact	7	6	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	ENST00000324545.8	+	8	1494	c.861A>G	c.(859-861)gaA>gaG	p.E287E	USP9X_ENST00000378308.2_Silent_p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	287					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						AGTTTTTAGAAAACTTAACTG	0.318																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(859-861)gaA>gaG		ubiquitin specific peptidase 9, X-linked							22	22	22					X																	41000309		2116	4228	6344	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41000309A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.861A>G	X.37:g.41000309A>G						USP9X_ENST00000378308.2_Silent_p.E287E	p.E287E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			8	1494	+			287					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.861A>G	CCDS43930.1																																																																																				0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		22	84	0	0	0	1	0	22	84					G	41000309	A	G	41000309	2	3	79	1	0	0	0	0	0	0	0	1	17144	11	1	4		4	USP9X	23	41000309	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	414241	41000309	114270251	21301	31618											
USP9X	8239	broad.mit.edu	37	chrX	41031200	41031200	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agcaagagtacttatgaaacTtatgccgccaggtaagaatt	9	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41031200T>G	ENST00000324545.8	+	21	3770	c.3137T>G	c.(3136-3138)cTt>cGt	p.L1046R	USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1046					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						CTTATGAAACTTATGCCGCCA	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(3136-3138)cTt>cGt		ubiquitin specific peptidase 9, X-linked							117	112	114					X																	41031200		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41031200T>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3137T>G	X.37:g.41031200T>G	ENSP00000316357:p.Leu1046Arg					USP9X_ENST00000378308.2_Missense_Mutation_p.L1046R	p.L1046R	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			21	3770	+			1046					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.3137T>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130005	0.77549	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.04706	3.57;3.57	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.70595	2.14	0.80722	D	1	D;P	0.56287	0.975;0.911	P;P	0.55824	0.785;0.53	T	0.00763	-1.1576	10	0.41790	T	0.15	.	14.4484	0.67367	0.0:0.0:0.0:1.0	.	1046;1046	Q93008-1;Q93008	.;USP9X_HUMAN	R	1046	ENSP00000367558:L1046R;ENSP00000316357:L1046R	ENSP00000316357:L1046R	L	+	2	0	USP9X	40916144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.673000	0.83973	1.791000	0.52520	0.481000	0.45027	CTT		0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	502	0	0	0	1	0	14	502					G	41031200	T	G	41031200	3	3	79	1	0	0	0	0	1	0	0	0	17144	1609	56	4	3215	4	USP9X	23	41031200	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	30891	41031200	114239360	21302	31619											
USP9X	8239	broad.mit.edu	37	chrX	41075627	41075627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgatcacatgatgaagcGtatgtcatacaggcgccaga	11	8	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	ENST00000324545.8	+	35	6440	c.5807G>A	c.(5806-5808)cGt>cAt	p.R1936H	USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1936	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGATGAAGCGTATGTCATAC	0.373																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5806-5808)cGt>cAt		ubiquitin specific peptidase 9, X-linked							160	151	154					X																	41075627		2199	4297	6496	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075627G>A	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.5807G>A	X.37:g.41075627G>A	ENSP00000316357:p.Arg1936His					USP9X_ENST00000378308.2_Missense_Mutation_p.R1936H	p.R1936H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			35	6440	+			1936					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.5807G>A	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668534	0.88348	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03413	3.94;3.94	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	M	0.77313	2.365	0.80722	D	1	D;P	0.89917	1.0;0.65	D;B	0.65233	0.933;0.372	T	0.00134	-1.2009	10	0.48119	T	0.1	.	19.0114	0.92874	0.0:0.0:1.0:0.0	.	1936;1936	Q93008-1;Q93008	.;USP9X_HUMAN	H	1936	ENSP00000367558:R1936H;ENSP00000316357:R1936H	ENSP00000316357:R1936H	R	+	2	0	USP9X	40960571	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.465000	0.97660	2.439000	0.82584	0.544000	0.68410	CGT		0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		144	521	0	0	0	1	0	144	521					A	41075627	G	A	41075627	3	1	79	1	0	0	0	0	1	0	0	0	17144	1145	40	1	5941	1	USP9X	23	41075627	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44427	41075627	114194933	21303	31620											
DDX3X	1654	broad.mit.edu	37	chrX	41204512	41204512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatagtcgaacaagatActatgcctccaaagggtgtc	10	8	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41204512A>G	ENST00000399959.2	+	11	1960	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGAACAAGATACTATGCCTCC	0.378										HNSCC(61;0.18)																												ENST00000399959.2																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1105-1107)Act>Gct		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked							141	135	137					X																	41204512		2167	4289	6456	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41204512A>G	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1105A>G	X.37:g.41204512A>G	ENSP00000382840:p.Thr369Ala	HNSCC(61;0.18)				DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.T353A	p.T369A	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN			11	1960	+			369			Helicase ATP-binding.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1105A>G	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	a	15.73	2.920645	0.52653	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.16897	2.31;2.31	5.37	5.37	0.77165	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.10874	0.06	0.80722	D	1	B;B;B;B	0.10296	0.003;0.002;0.001;0.001	B;B;B;B	0.15052	0.012;0.008;0.012;0.012	T	0.11767	-1.0574	10	0.36615	T	0.2	-5.5069	14.5265	0.67892	1.0:0.0:0.0:0.0	.	369;353;381;369	B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;DDX3X_HUMAN	A	369;353	ENSP00000382840:T369A;ENSP00000392494:T353A	ENSP00000382840:T369A	T	+	1	0	DDX3X	41089456	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.520000	0.81821	1.810000	0.52873	0.427000	0.28365	ACT		0.378	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		143	439	0	0	0	1	0	143	439					G	41204512	A	G	41204512	3	3	79	1	0	0	0	0	1	0	0	0	4369	391	14	4	1147	4	DDX3X	23	41204512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	128885	41204512	114066048	21304	31621											
NYX	60506	broad.mit.edu	37	chrX	41333654	41333654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacggcaaccgcctcaccgtGctcgcctgggtcgccttcca	10	18	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41333654G>A	ENST00000342595.2	+	2	1404	c.948G>A	c.(946-948)gtG>gtA	p.V316V	NYX_ENST00000378220.1_Silent_p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	316					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						GCCTCACCGTGCTCGCCTGGG	0.667																																						ENST00000342595.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(946-948)gtG>gtA		nyctalopin							44	41	42					X																	41333654		2203	4299	6502	SO:0001819	synonymous_variant	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333654G>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.948G>A	X.37:g.41333654G>A						NYX_ENST00000378220.1_Silent_p.V316V	p.V316V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1404	+			316					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	ENST00000342595.2	37	c.948G>A	CCDS14256.1																																																																																				0.667	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		98	264	0	0	0	1	0	98	264					A	41333654	G	A	41333654	2	1	79	1	0	0	0	0	0	0	0	1	10839	1306	46	2		2	NYX	23	41333654	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	129142	41333654	113936906	21305	31622											
CASK	8573	broad.mit.edu	37	chrX	41437686	41437686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttagcactttctggagaatcGccgtttaaatagggagaggt	12	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41437686G>A	ENST00000378163.1	-	15	1884	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G|CASK_ENST00000318588.9_Silent_p.G470G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	470					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						CTGGAGAATCGCCGTTTAAAT	0.463																																					NSCLC(42;104 1086 3090 27189 35040)	ENST00000318588.9																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						c.(1408-1410)ggC>ggT		calcium/calmodulin-dependent serine protein kinase (MAGUK family)							128	101	110					X																	41437686		2203	4300	6503	SO:0001819	synonymous_variant	8573				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity	g.chrX:41437686G>A	AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1410C>T	X.37:g.41437686G>A						CASK_ENST00000378163.1_Silent_p.G470G|CASK_ENST00000378166.4_Silent_p.G470G|CASK_ENST00000378154.1_Silent_p.G470G|CASK_ENST00000421587.2_Silent_p.G464G|CASK_ENST00000378158.1_Silent_p.G470G|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000361962.4_Silent_p.G470G|CASK_ENST00000442742.2_Silent_p.G470G	p.G470G			O14936	CSKP_HUMAN			15	1455	-			470					A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	ENST00000378163.1	37	c.1410C>T																																																																																					0.463	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688		30	254	0	0	0	1	0	30	254					A	41437686	G	A	41437686	2	1	79	1	0	0	0	0	0	0	0	1	2672	1074	38	1		1	CASK	23	41437686	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	104032	41437686	113832874	21306	31623											
NDP	4693	broad.mit.edu	37	chrX	43817734	43817734	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctttgagctacacttgTacaatgggtgactgatagaa	9	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:43817734T>C	ENST00000378062.5	-	2	565	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	53	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						GCTACACTTGTACAATGGGTG	0.473																																						ENST00000378062.5																			0				kidney(1)|lung(2)	3						c.(157-159)tAc>tGc		Norrie disease (pseudoglioma)							178	136	151					X																	43817734		2203	4300	6503	SO:0001583	missense	4693				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity	g.chrX:43817734T>C	X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"Endogenous ligands"	7678	protein-coding gene	gene with protein product		300658	"exudative vitreoretinopathy 2 (X-linked)"	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.158A>G	X.37:g.43817734T>C	ENSP00000367301:p.Tyr53Cys					NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_Intron	p.Y53C	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN			2	565	-			53			CTCK.		B2R8K6|Q5JYH5	Missense_Mutation	SNP	ENST00000378062.5	37	c.158A>G	CCDS14262.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700482	0.68501	.	.	ENSG00000124479	ENST00000378062	D	0.90676	-2.71	5.98	5.98	0.97165	Cystine knot (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	D	0.92428	0.5951	10	0.72032	D	0.01	-29.3628	15.3225	0.74132	0.0:0.0:0.0:1.0	.	53	Q00604	NDP_HUMAN	C	53	ENSP00000367301:Y53C	ENSP00000367301:Y53C	Y	-	2	0	NDP	43702678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.263000	0.78421	2.002000	0.58637	0.486000	0.48141	TAC		0.473	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056309.1	NM_000266		95	339	0	0	0	1	0	95	339					C	43817734	T	C	43817734	3	2	79	1	0	0	0	0	1	0	0	0	10292	1638	57	4	251	4	NDP	23	43817734	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2380048	43817734	111452826	21307	31624											
CXorf36	79742	broad.mit.edu	37	chrX	45059910	45059910	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgcatttatcaagaccgagGaaagtccttccaaaattgta	7	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:45059910G>A	ENST00000398000.2	-	1	236	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RP11-342D14.1_ENST00000438181.1_RNA|CXorf36_ENST00000377934.4_Silent_p.F54F|RP11-342D14.1_ENST00000450527.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	54						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAAGACCGAGGAAAGTCCTTC	0.428																																						ENST00000398000.2																			0				endometrium(1)|large_intestine(2)|lung(4)	7						c.(160-162)ttC>ttT		chromosome X open reading frame 36							79	74	75					X																	45059910		2203	4300	6503	SO:0001819	synonymous_variant	79742					extracellular region		g.chrX:45059910G>A	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.162C>T	X.37:g.45059910G>A						CXorf36_ENST00000377934.4_Silent_p.F54F|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA	p.F54F	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN			1	236	-			54					A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	ENST00000398000.2	37	c.162C>T	CCDS48096.1																																																																																				0.428	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2	NM_024689		69	255	0	0	0	1	0	69	255					A	45059910	G	A	45059910	2	1	79	1	0	0	0	0	0	0	0	1	4117	1165	41	2		2	CXorf36	23	45059910	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1242176	45059910	110210650	21308	31625											
SLC9A7	84679	broad.mit.edu	37	chrX	46480434	46480434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcaaagctgtaccacaGcctgaatatccatgcgctct	8	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:46480434G>T	ENST00000328306.4	-	15	1823	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	600					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTGTACCACAGCCTGAATATC	0.463																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(1798-1800)Ctg>Atg		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							167	99	122					X																	46480434		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46480434G>T	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1798C>A	X.37:g.46480434G>T	ENSP00000330320:p.Leu600Met					SLC9A7_ENST00000464933.1_5'UTR	p.L600M	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			15	1823	-			600					O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.1798C>A	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	g	7.689	0.690640	0.15039	.	.	ENSG00000065923	ENST00000328306	T	0.46063	0.88	5.34	4.48	0.54585	.	0.149626	0.45361	D	0.000364	T	0.27454	0.0674	L	0.35341	1.055	0.38746	D	0.953991	B	0.24618	0.107	B	0.19946	0.027	T	0.14448	-1.0472	10	0.33940	T	0.23	.	5.0467	0.14487	0.1844:0.1684:0.6471:0.0	.	600	Q96T83	SL9A7_HUMAN	M	600	ENSP00000330320:L600M	ENSP00000330320:L600M	L	-	1	2	SLC9A7	46365378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.914000	0.28624	1.234000	0.43709	0.597000	0.82753	CTG		0.463	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		34	83	1	0	2.19358e-23	1	2.49351e-23	34	83					T	46480434	G	T	46480434	3	4	79	1	0	0	0	0	1	0	0	0	14769	962	34	3	391	3	SLC9A7	23	46480434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1420524	46480434	108790126	21309	31626											
RBM10	8241	broad.mit.edu	37	chrX	47039844	47039844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccaatgaaggcagtcGcatcagtgctgcctctgtgg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47039844G>A	ENST00000377604.3	+	12	1929	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	396			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.R396H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAAGGCAGTCGCATCAGTGCT	0.627																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			1	Substitution - Missense(1)	p.R396H(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(1186-1188)cGc>cAc		RNA binding motif protein 10							42	33	36					X																	47039844		2203	4300	6503	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039844G>A	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1187G>A	X.37:g.47039844G>A	ENSP00000366829:p.Arg396His					RBM10_ENST00000329236.7_Missense_Mutation_p.R318H|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Missense_Mutation_p.R319H	p.R396H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			12	1929	+			396		R -> H (in a colorectal cancer sample; somatic mutation).			C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.1187G>A	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537587	0.65085	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.20463	2.74;2.07;2.33	2.92	2.92	0.33932	.	0.074216	0.53938	D	0.000050	T	0.39091	0.1065	M	0.62723	1.935	0.34688	D	0.725429	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.998;0.999;1.0;0.994;0.999	T	0.50642	-0.8804	10	0.37606	T	0.19	-11.582	11.024	0.47734	0.0:0.0:1.0:0.0	.	319;461;395;318;396	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	396;318;319	ENSP00000366829:R396H;ENSP00000328848:R318H;ENSP00000329659:R319H	ENSP00000328848:R318H	R	+	2	0	RBM10	46924788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.112000	0.94314	1.724000	0.51502	0.525000	0.51046	CGC		0.627	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		27	104	0	0	0	1	0	27	104					A	47039844	G	A	47039844	3	1	79	1	0	0	0	0	1	0	0	0	13161	1087	38	1	1229	1	RBM10	23	47039844	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	559410	47039844	108230716	21310	31627											
UBA1	7317	broad.mit.edu	37	chrX	47058959	47058959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagctcaacagctatgtGcctgtcactgcctacactgg	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47058959G>A	ENST00000335972.6	+	5	609	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UBA1_ENST00000377351.4_Silent_p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	142	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACAGCTATGTGCCTGTCACTG	0.567																																						ENST00000335972.6																			0				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						c.(424-426)gtG>gtA		ubiquitin-like modifier activating enzyme 1							127	117	120					X																	47058959		2203	4300	6503	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47058959G>A	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.426G>A	X.37:g.47058959G>A						UBA1_ENST00000377351.4_Silent_p.V142V	p.V142V	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			5	609	+			142			2 approximate repeats.		Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.426G>A	CCDS14275.1																																																																																				0.567	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		151	544	0	0	0	1	0	151	544					A	47058959	G	A	47058959	2	1	79	1	0	0	0	0	0	0	0	1	16881	1306	46	2		2	UBA1	23	47058959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19115	47058959	108211601	21311	31628											
UBA1	7317	broad.mit.edu	37	chrX	47065399	47065399	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaaatgaatccacataTccgggtgacaagccaccaga	9	13	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47065399T>C	ENST00000335972.6	+	15	1811	c.1628T>C	c.(1627-1629)aTc>aCc	p.I543T	UBA1_ENST00000377351.4_Missense_Mutation_p.I543T|UBA1_ENST00000490869.1_Intron|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377269.3_5'Flank	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	543	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCCACATATCCGGGTGACA	0.522																																						ENST00000335972.6																			0				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						c.(1627-1629)aTc>aCc		ubiquitin-like modifier activating enzyme 1							47	35	39					X																	47065399		2201	4299	6500	SO:0001583	missense	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47065399T>C	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.1628T>C	X.37:g.47065399T>C	ENSP00000338413:p.Ile543Thr					UBA1_ENST00000490869.1_Intron|UBA1_ENST00000377351.4_Missense_Mutation_p.I543T	p.I543T	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN			15	1811	+			543			2 approximate repeats.		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	c.1628T>C	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.253058	0.59212	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	T;T	0.46819	0.86;0.86	4.63	4.63	0.57726	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.259842	0.38720	N	0.001585	T	0.49338	0.1551	L	0.55990	1.75	0.80722	D	1	B	0.31256	0.316	B	0.39339	0.297	T	0.54357	-0.8306	10	0.72032	D	0.01	-20.5189	12.3933	0.55370	0.0:0.0:0.0:1.0	.	543	P22314	UBA1_HUMAN	T	543	ENSP00000366568:I543T;ENSP00000338413:I543T	ENSP00000338413:I543T	I	+	2	0	UBA1	46950343	0.983000	0.35010	0.849000	0.33467	0.954000	0.61252	7.959000	0.87885	1.630000	0.50440	0.483000	0.47432	ATC		0.522	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		7	73	0	0	0	1	0	7	73					C	47065399	T	C	47065399	3	2	79	1	0	0	0	0	1	0	0	0	16881	1435	50	4	1682	4	UBA1	23	47065399	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6440	47065399	108205161	21312	31629											
USP11	8237	broad.mit.edu	37	chrX	47103898	47103898	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctgctctgttgcagaCgctacgtgaccaaacccaac	7	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	ENST00000218348.3	+	14	1921	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP11_ENST00000377107.2_Splice_Site_p.R598C	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	641	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						CTGTTGCAGACGCTACGTGAC	0.542																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.e14-1		ubiquitin specific peptidase 11							87	70	76					X																	47103898		2203	4300	6503	SO:0001630	splice_region_variant	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47103898C>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1920-1C>T	X.37:g.47103898C>T						USP11_ENST00000218348.3_Splice_Site_p.R641_splice	p.R598_splice			P51784	UBP11_HUMAN			14	2146	+			641					B2RTX1|Q8IUG6|Q9BWE1	Splice_Site	SNP	ENST00000218348.3	37	c.1790_splice	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651027	0.67472	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.26067	1.78;1.76	3.91	3.91	0.45181	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.239380	0.34853	N	0.003627	T	0.32704	0.0838	M	0.75884	2.315	0.52099	D	0.999941	P;P	0.43542	0.81;0.5	B;B	0.43701	0.428;0.096	T	0.25257	-1.0137	10	0.87932	D	0	-18.5693	10.4162	0.44322	0.0:1.0:0.0:0.0	.	368;641	B3KP28;P51784	.;UBP11_HUMAN	C	598;641	ENSP00000366311:R598C;ENSP00000218348:R641C	ENSP00000218348:R641C	R	+	1	0	USP11	46988842	0.997000	0.39634	0.996000	0.52242	0.955000	0.61496	1.207000	0.32333	2.217000	0.71921	0.600000	0.82982	CGC		0.542	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	Missense_Mutation	37	173	0	0	0	1	0	37	173					T	47103898	C	T	47103898	5	4	79	1	0	0	0	0	0	0	1	0	17096	550	19	1	1975	1	USP11	23	47103898	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38499	47103898	108166662	21313	31630											
USP11	8237	broad.mit.edu	37	chrX	47103933	47103933	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccaactcagatgatgaggaCgatggggatgagaaaggtga	15	6	1	5	rs143527670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103933C>A	ENST00000218348.3	+	14	1956	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	USP11_ENST00000377107.2_Missense_Mutation_p.D609E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	652	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						ATGATGAGGACGATGGGGATG	0.567																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1825-1827)gaC>gaA		ubiquitin specific peptidase 11							79	63	68					X																	47103933		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47103933C>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1956C>A	X.37:g.47103933C>A	ENSP00000218348:p.Asp652Glu					USP11_ENST00000218348.3_Missense_Mutation_p.D652E	p.D609E			P51784	UBP11_HUMAN			14	2181	+			652					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1827C>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	C	1.752	-0.488887	0.04352	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.19806	2.13;2.12	5.29	-10.6	0.00265	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.135832	0.33496	N	0.004844	T	0.08088	0.0202	N	0.17082	0.46	0.19945	N	0.999943	B;B	0.30511	0.011;0.282	B;B	0.25506	0.061;0.057	T	0.08330	-1.0727	10	0.11182	T	0.66	-11.0471	15.5878	0.76499	0.0787:0.6963:0.0:0.225	.	379;652	B3KP28;P51784	.;UBP11_HUMAN	E	609;652	ENSP00000366311:D609E;ENSP00000218348:D652E	ENSP00000218348:D652E	D	+	3	2	USP11	46988877	0.001000	0.12720	0.049000	0.19019	0.845000	0.48019	-4.332000	0.00251	-3.730000	0.00114	-1.851000	0.00568	GAC		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		38	179	1	0	1.15505e-17	1	1.27701e-17	38	179					A	47103933	C	A	47103933	3	1	79	1	0	0	0	0	1	0	0	0	17096	535	19	3	2010	3	USP11	23	47103933	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35	47103933	108166627	21314	31631											
ZNF41	7592	broad.mit.edu	37	chrX	47307548	47307548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagtgtgagttttctggtGtttaatgagatttgactggt	12	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307548G>A	ENST00000377065.4	-	5	2260	c.1621C>T	c.(1621-1623)Cac>Tac	p.H541Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTCTGGTGTTTAATGAGA	0.413																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1621-1623)Cac>Tac		zinc finger protein 41							94	88	90					X																	47307548		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307548G>A	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1621C>T	X.37:g.47307548G>A	ENSP00000366265:p.His541Tyr					ZNF41_ENST00000313116.7_Missense_Mutation_p.H541Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H551Y	p.H541Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	2260	-		all_lung(315;0.000129)	583					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1621C>T	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005915	0.54254	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	D;D;D	0.86769	-2.17;-2.17;-2.17	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37219	N	0.002200	D	0.94450	0.8214	H	0.95816	3.725	0.25229	N	0.989845	P;P;D;P;P	0.89917	0.635;0.635;1.0;0.817;0.848	B;B;D;B;P	0.83275	0.175;0.175;0.996;0.239;0.485	D	0.87312	0.2312	10	0.87932	D	0	.	8.9846	0.35986	0.115:0.0:0.885:0.0	.	541;543;551;575;583	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	Y	541;541;551	ENSP00000315173:H541Y;ENSP00000366265:H541Y;ENSP00000380243:H551Y	ENSP00000315173:H541Y	H	-	1	0	ZNF41	47192492	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.789000	0.75110	1.035000	0.39972	0.600000	0.82982	CAC		0.413	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		80	307	0	0	0	1	0	80	307					A	47307548	G	A	47307548	3	1	79	1	0	0	0	0	1	0	0	0	17942	1377	48	2	722	2	ZNF41	23	47307548	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203615	47307548	107963012	21315	31632											
ZNF41	7592	broad.mit.edu	37	chrX	47307946	47307946	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cattgcattcatagtgtttcTctccggtatgagttttctga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307946T>G	ENST00000377065.4	-	5	1862	c.1223A>C	c.(1222-1224)gAg>gCg	p.E408A	ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATAGTGTTTCTCTCCGGTATG	0.418																																						ENST00000377065.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24						c.(1222-1224)gAg>gCg		zinc finger protein 41							100	90	93					X																	47307946		2203	4300	6503	SO:0001583	missense	7592					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47307946T>G	X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1223A>C	X.37:g.47307946T>G	ENSP00000366265:p.Glu408Ala					ZNF41_ENST00000313116.7_Missense_Mutation_p.E408A|ZNF41_ENST00000397050.2_Missense_Mutation_p.E418A	p.E408A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN			5	1862	-		all_lung(315;0.000129)	450					A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	ENST00000377065.4	37	c.1223A>C	CCDS14279.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885366	0.51908	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.27557	1.66;1.66;1.66	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35772	N	0.003000	T	0.51466	0.1676	M	0.73598	2.24	0.29448	N	0.858655	D;D;P;D;D	0.76494	0.999;0.999;0.46;0.999;0.999	D;D;B;D;D	0.77004	0.973;0.973;0.301;0.98;0.989	T	0.50651	-0.8803	10	0.87932	D	0	.	9.7253	0.40328	0.0:0.0:0.0:1.0	.	408;410;418;442;450	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	A	408;408;418	ENSP00000315173:E408A;ENSP00000366265:E408A;ENSP00000380243:E418A	ENSP00000315173:E408A	E	-	2	0	ZNF41	47192890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.118000	0.64673	1.652000	0.50683	0.481000	0.45027	GAG		0.418	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056429.1	NM_153380		128	423	0	0	0	1	0	128	423					G	47307946	T	G	47307946	3	3	79	1	0	0	0	0	1	0	0	0	17942	1551	54	4	1120	4	ZNF41	23	47307946	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	398	47307946	107962614	21316	31633											
ARAF	369	broad.mit.edu	37	chrX	47429401	47429401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactggctcactgccttacaGccacattggctgccgtgacc	10	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47429401G>A	ENST00000377045.4	+	14	1723	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CTGCCTTACAGCCACATTGGC	0.587																																						ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1528-1530)aGc>aAc		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						64	38	47					X																	47429401		2203	4300	6503	SO:0001583	missense	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47429401G>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1529G>A	X.37:g.47429401G>A	ENSP00000366244:p.Ser510Asn					ARAF_ENST00000470206.1_3'UTR	p.S510N	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			14	1723	+			510			Protein kinase.		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	37	c.1529G>A	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175564	0.78564	.	.	ENSG00000078061	ENST00000377045	D	0.82803	-1.65	4.92	4.92	0.64577	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.170092	0.53938	D	0.000055	T	0.81498	0.4835	N	0.24115	0.695	0.80722	D	1	P	0.52463	0.953	P	0.57283	0.817	T	0.83154	-0.0102	10	0.66056	D	0.02	.	10.7924	0.46440	0.0:0.1877:0.8123:0.0	.	510	P10398	ARAF_HUMAN	N	510	ENSP00000366244:S510N	ENSP00000366244:S510N	S	+	2	0	ARAF	47314345	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.950000	0.49081	2.167000	0.68274	0.513000	0.50165	AGC		0.587	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			17	57	0	0	0	1	0	17	57					A	47429401	G	A	47429401	3	1	79	1	0	0	0	0	1	0	0	0	837	971	34	2	1579	2	ARAF	23	47429401	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	121455	47429401	107841159	21317	31634											
CFP	5199	broad.mit.edu	37	chrX	47487033	47487033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccagccagaccagccGcccatctctgtgggagagaa	12	16	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47487033G>A	ENST00000396992.3	-	4	531	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000247153.3_Silent_p.G137G	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	137	TSP type-1 2. {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						CAGACCAGCCGCCCATCTCTG	0.612																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(409-411)ggC>ggT		complement factor properdin							11	12	12					X																	47487033		2197	4282	6479	SO:0001819	synonymous_variant	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47487033G>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.411C>T	X.37:g.47487033G>A						CFP_ENST00000377005.2_Silent_p.G137G|CFP_ENST00000396992.3_Silent_p.G137G	p.G137G	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			5	652	-			137			TSP type-1 2.		O15134|O15135|O15136|O75826	Silent	SNP	ENST00000396992.3	37	c.411C>T	CCDS14282.1																																																																																				0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		14	65	0	0	0	1	0	14	65					A	47487033	G	A	47487033	2	1	79	1	0	0	0	0	0	0	0	1	3302	1074	38	1		1	CFP	23	47487033	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57632	47487033	107783527	21318	31635											
ZNF81	347344	broad.mit.edu	37	chrX	47775190	47775190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatcagacaactcatactgGagaaaaactctttgaatgca	7	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47775190G>A	ENST00000376954.1	+	6	1513	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E			P51508	ZNF81_HUMAN	zinc finger protein 81	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)				ACTCATACTGGAGAAAAACTC	0.398																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(1144-1146)gGa>gAa		zinc finger protein 81							59	59	59					X																	47775190		2191	4295	6486	SO:0001583	missense	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47775190G>A	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.1145G>A	X.37:g.47775190G>A	ENSP00000366153:p.Gly382Glu					ZNF81_ENST00000338637.7_Missense_Mutation_p.G382E	p.G382E			P51508	ZNF81_HUMAN			6	1513	+		all_lung(315;0.0973)	382					Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	c.1145G>A	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846366	0.51164	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.25749	1.78;1.78	4.16	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000708	T	0.21347	0.0514	L	0.27975	0.815	0.31963	N	0.608155	P	0.47677	0.899	P	0.46585	0.521	T	0.18429	-1.0337	10	0.72032	D	0.01	.	8.9002	0.35490	0.1139:0.0:0.8861:0.0	.	382	P51508	ZNF81_HUMAN	E	382	ENSP00000366153:G382E;ENSP00000341151:G382E	ENSP00000341151:G382E	G	+	2	0	ZNF81	47660134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.324000	0.59228	1.102000	0.41551	0.600000	0.82982	GGA		0.398	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		80	269	0	0	0	1	0	80	269					A	47775190	G	A	47775190	3	1	79	1	0	0	0	0	1	0	0	0	18227	1174	41	2	1159	2	ZNF81	23	47775190	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	288157	47775190	107495370	21319	31636											
SLC38A5	92745	broad.mit.edu	37	chrX	48317422	48317422	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggactccaaagcacagggccTgtgggccagagagacaagat	14	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48317422T>C	ENST00000376876.3	-	16	2161		c.e16-2		SLC38A5_ENST00000480105.1_5'Flank|SLC38A5_ENST00000376875.1_Splice_Site|SLC38A5_ENST00000317669.5_Splice_Site			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GCACAGGGCCTGTGGGCCAGA	0.567																																						ENST00000376876.3																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						c.e16-2		solute carrier family 38, member 5							43	38	39					X																	48317422		2198	4278	6476	SO:0001630	splice_region_variant	92745				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chrX:48317422T>C	AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.1318-2A>G	X.37:g.48317422T>C						SLC38A5_ENST00000317669.5_Splice_Site|SLC38A5_ENST00000376875.1_Splice_Site				Q8WUX1	S38A5_HUMAN			16	2161	-								B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Splice_Site	SNP	ENST00000376876.3	37		CCDS14293.1	.	.	.	.	.	.	.	.	.	.	t	11.80	1.746127	0.30955	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7927	0.52078	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC38A5	48202366	1.000000	0.71417	0.968000	0.41197	0.187000	0.23431	7.138000	0.77305	1.686000	0.51046	0.425000	0.28330	.		0.567	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060724.1	NM_033518	Intron	7	26	0	0	0	1	0	7	26					C	48317422	T	C	48317422	5	2	79	1	0	0	0	0	0	0	1	0	14657	1594	55	4	106	4	SLC38A5	23	48317422	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	542232	48317422	106953138	21320	31637											
FTSJ1	24140	broad.mit.edu	37	chrX	48339583	48339583	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtatatgcaggcccagctcCtcctagctgtgagtaaccct	9	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48339583C>T	ENST00000348411.2	+	6	729	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F|FTSJ1_ENST00000019019.2_Missense_Mutation_p.L136F|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						GGCCCAGCTCCTCCTAGCTGT	0.592																																						ENST00000019019.2																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(406-408)Ctc>Ttc		FtsJ RNA methyltransferase homolog 1 (E. coli)							109	78	89					X																	48339583		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48339583C>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.406C>T	X.37:g.48339583C>T	ENSP00000326948:p.Leu136Phe					FTSJ1_ENST00000348411.2_Missense_Mutation_p.L136F|FTSJ1_ENST00000456787.1_Missense_Mutation_p.L136F|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Intron	p.L136F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN			7	835	+			136						Missense_Mutation	SNP	ENST00000348411.2	37	c.406C>T	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775117	0.49786	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.33654	1.4;1.4;1.4	4.47	4.47	0.54385	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.080390	0.51477	D	0.000087	T	0.59742	0.2216	M	0.80616	2.505	0.80722	D	1	D;P;D	0.69078	0.997;0.81;0.984	D;P;D	0.78314	0.991;0.875;0.949	T	0.65059	-0.6260	10	0.87932	D	0	-7.014	11.6808	0.51457	0.0:1.0:0.0:0.0	.	136;136;136	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	F	136	ENSP00000019019:L136F;ENSP00000326948:L136F;ENSP00000415457:L136F	ENSP00000019019:L136F	L	+	1	0	FTSJ1	48224527	1.000000	0.71417	0.964000	0.40570	0.016000	0.09150	4.594000	0.61041	2.241000	0.73720	0.507000	0.49892	CTC		0.592	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			34	107	0	0	0	1	0	34	107					T	48339583	C	T	48339583	3	4	79	1	0	0	0	0	1	0	0	0	6114	681	24	2	424	2	FTSJ1	23	48339583	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	22161	48339583	106930977	21321	31638											
FTSJ1	24140	broad.mit.edu	37	chrX	48340860	48340860	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtgacctgtggggacctgaGctcctatgattcggaccgca	13	11	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48340860G>T	ENST00000348411.2	+	10	1048	c.725G>T	c.(724-726)aGc>aTc	p.S242I	FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I|FTSJ1_ENST00000019019.2_Missense_Mutation_p.S240I|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						GGGGACCTGAGCTCCTATGAT	0.562																																						ENST00000019019.2																			0				breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						c.(718-720)aGc>aTc		FtsJ RNA methyltransferase homolog 1 (E. coli)							134	89	104					X																	48340860		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48340860G>T	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"tRNA methyltransferase 7 homolog (S. cerevisiae)"	300499	"mental retardation, X-linked 9", "mental retardation, X-linked 44"	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.725G>T	X.37:g.48340860G>T	ENSP00000326948:p.Ser242Ile					FTSJ1_ENST00000348411.2_Missense_Mutation_p.S242I|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S240I|FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000396894.4_Missense_Mutation_p.S105I	p.S240I	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN			11	1148	+			242						Missense_Mutation	SNP	ENST00000348411.2	37	c.719G>T	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.419145	0.62622	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000396894;ENST00000456787	T;T;T	0.50813	0.73;0.73;0.73	5.37	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.90759	3.145	0.45930	D	0.998761	D;D;D;P	0.67145	0.996;0.968;0.981;0.672	D;P;D;B	0.66351	0.943;0.753;0.914;0.313	T	0.69942	-0.5008	10	0.72032	D	0.01	-20.688	7.8376	0.29378	0.1976:0.0:0.8024:0.0	.	105;242;240;240	B7Z4K4;Q9UET6;Q9UET6-2;B3KN91	.;RRMJ1_HUMAN;.;.	I	240;242;105;240	ENSP00000019019:S240I;ENSP00000326948:S242I;ENSP00000415457:S240I	ENSP00000019019:S240I	S	+	2	0	FTSJ1	48225804	1.000000	0.71417	0.469000	0.27204	0.599000	0.36880	8.320000	0.89995	0.583000	0.29574	0.507000	0.49892	AGC		0.562	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			40	116	1	0	1.04594e-18	1	1.16214e-18	40	116					T	48340860	G	T	48340860	3	4	79	1	0	0	0	0	1	0	0	0	6114	971	34	3	759	3	FTSJ1	23	48340860	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1277	48340860	106929700	21322	31639											
PORCN	64840	broad.mit.edu	37	chrX	48370880	48370880	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cacagctacctacaagctgtCcaaggccgcccactggtgag	10	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48370880C>T	ENST00000326194.6	+	4	583	c.540C>T	c.(538-540)gtC>gtT	p.V180V	PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V|PORCN_ENST00000367574.4_Silent_p.V109V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	180					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAAGCTGTCCAAGGCCGCC	0.612																																						ENST00000367574.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(325-327)gtC>gtT		porcupine homolog (Drosophila)							46	35	39					X																	48370880		2203	4299	6502	SO:0001819	synonymous_variant	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48370880C>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.540C>T	X.37:g.48370880C>T						PORCN_ENST00000537758.1_Silent_p.V180V|PORCN_ENST00000361988.3_Silent_p.V180V|PORCN_ENST00000355092.3_Silent_p.V180V|PORCN_ENST00000326194.6_Silent_p.V180V|PORCN_ENST00000355961.4_Silent_p.V180V|PORCN_ENST00000359882.4_Silent_p.V180V	p.V109V			Q9H237	PORCN_HUMAN			5	832	+			180					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Silent	SNP	ENST00000326194.6	37	c.327C>T	CCDS14299.1																																																																																				0.612	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		19	59	0	0	0	1	0	19	59					T	48370880	C	T	48370880	2	4	79	1	0	0	0	0	0	0	0	1	12300	842	30	2		2	PORCN	23	48370880	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	30020	48370880	106899680	21323	31640											
TBC1D25	4943	broad.mit.edu	37	chrX	48418517	48418517	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgacctcttcttctgttaCcgctggctgctgctggaact	10	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48418517C>T	ENST00000376771.4	+	6	1562	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y	TBC1D25_ENST00000537536.1_Silent_p.Y153Y|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	407	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTTCTGTTACCGCTGGCTGC	0.557																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1219-1221)taC>taT		TBC1 domain family, member 25							33	23	26					X																	48418517		2203	4299	6502	SO:0001819	synonymous_variant	4943					intracellular	Rab GTPase activator activity	g.chrX:48418517C>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1221C>T	X.37:g.48418517C>T						TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.Y153Y	p.Y407Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	1562	+			407			Rab-GAP TBC.		Q08AN9|Q3MII4|Q8TAR9	Silent	SNP	ENST00000376771.4	37	c.1221C>T	CCDS35242.1																																																																																				0.557	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		19	72	0	0	0	1	0	19	72					T	48418517	C	T	48418517	2	4	79	1	0	0	0	0	0	0	0	1	15667	518	18	2		2	TBC1D25	23	48418517	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47637	48418517	106852043	21324	31641											
TBC1D25	4943	broad.mit.edu	37	chrX	48419054	48419054	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatcccccttgatgcaagaGgtaggctccccgaaagaccc	11	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48419054G>T	ENST00000376771.4	+	6	2099	c.1758G>T	c.(1756-1758)gaG>gaT	p.E586D	TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	586					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGATGCAAGAGGTAGGCTCCC	0.597																																						ENST00000376771.4																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1756-1758)gaG>gaT		TBC1 domain family, member 25							89	76	80					X																	48419054		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48419054G>T	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1758G>T	X.37:g.48419054G>T	ENSP00000365962:p.Glu586Asp					TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.E332D	p.E586D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN			6	2099	+			586					Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.1758G>T	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	2.166	-0.390994	0.04932	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14766	2.49;2.48	4.73	3.86	0.44501	Rab-GAP/TBC domain (1);	0.939161	0.08968	N	0.867691	T	0.13841	0.0335	L	0.36672	1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.25257	-1.0137	10	0.49607	T	0.09	-13.5907	11.8855	0.52600	0.0:0.1872:0.8128:0.0	.	590;528;586	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	586;332	ENSP00000365962:E586D;ENSP00000444091:E332D	ENSP00000365962:E586D	E	+	3	2	TBC1D25	48303998	0.262000	0.24073	0.184000	0.23157	0.294000	0.27393	0.335000	0.19806	0.906000	0.36621	0.436000	0.28706	GAG		0.597	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		16	522	1	0	9.16793e-09	1	9.60025e-09	16	522					T	48419054	G	T	48419054	3	4	79	1	0	0	0	0	1	0	0	0	15667	991	35	3	1780	3	TBC1D25	23	48419054	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	537	48419054	106851506	21325	31642											
HDAC6	10013	broad.mit.edu	37	chrX	48674663	48674663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacagaggctgagctgCtcacctgtcacaggtcagac	11	14	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48674663C>T	ENST00000334136.5	+	18	1787	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F|HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	537	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGCTGAGCTGCTCACCTGTCA	0.662																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				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						c.(1609-1611)Ctc>Ttc		histone deacetylase 6	Vorinostat(DB02546)						21	20	20					X																	48674663		2203	4296	6499	SO:0001583	missense	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48674663C>T	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.1609C>T	X.37:g.48674663C>T	ENSP00000334061:p.Leu537Phe					HDAC6_ENST00000444343.2_Missense_Mutation_p.L551F|HDAC6_ENST00000376619.2_Missense_Mutation_p.L537F	p.L537F			Q9UBN7	HDAC6_HUMAN			18	1787	+			537			Histone deacetylase 2.		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	ENST00000334136.5	37	c.1609C>T	CCDS14306.1	.	.	.	.	.	.	.	.	.	.	C	4.748	0.139103	0.09083	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72167	-0.63;-0.63;-0.63	5.85	4.08	0.47627	Histone deacetylase domain (2);	0.398067	0.26159	N	0.025993	T	0.69682	0.3138	M	0.86502	2.82	0.42683	D	0.993555	B;B;B	0.15473	0.005;0.013;0.005	B;B;B	0.23852	0.023;0.049;0.023	T	0.60089	-0.7331	10	0.09843	T	0.71	-15.8329	8.3677	0.32397	0.154:0.7629:0.0:0.0831	.	527;185;537	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	F	551;537;537;537	ENSP00000398566:L551F;ENSP00000334061:L537F;ENSP00000365804:L537F	ENSP00000334061:L537F	L	+	1	0	HDAC6	48559607	0.951000	0.32395	0.992000	0.48379	0.622000	0.37654	1.277000	0.33167	0.592000	0.29728	-1.026000	0.02426	CTC		0.662	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		42	137	0	0	0	1	0	42	137					T	48674663	C	T	48674663	3	4	79	1	0	0	0	0	1	0	0	0	7041	797	28	2	1675	2	HDAC6	23	48674663	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	255609	48674663	106595897	21326	31643											
SLC35A2	7355	broad.mit.edu	37	chrX	48767103	48767103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttcgtacccctcttctgtgCgaagagcagcagcaggcagg	13	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48767103C>T	ENST00000247138.5	-	2	265	c.262G>A	c.(262-264)Gca>Aca	p.A88T	SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000376521.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000413561.2_Intron|SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	88					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CTCTTCTGTGCGAAGAGCAGC	0.597																																						ENST00000376521.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(262-264)Gca>Aca		solute carrier family 35 (UDP-galactose transporter), member A2							70	49	56					X																	48767103		2203	4300	6503	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48767103C>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.262G>A	X.37:g.48767103C>T	ENSP00000247138:p.Ala88Thr					SLC35A2_ENST00000376512.1_Missense_Mutation_p.A88T|SLC35A2_ENST00000247138.5_Missense_Mutation_p.A88T|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A88T|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A64T|SLC35A2_ENST00000445167.2_Missense_Mutation_p.A88T|SLC35A2_ENST00000452555.2_Missense_Mutation_p.A116T|SLC35A2_ENST00000413561.2_Intron	p.A88T	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN			2	583	-			88					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.262G>A	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.667952	0.29604	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000376515;ENST00000452555;ENST00000446885;ENST00000376512	T;T;T;T	0.46819	0.86;0.87;0.87;0.95	5.51	3.73	0.42828	.	0.451423	0.22929	N	0.053937	T	0.25419	0.0618	N	0.22421	0.69	0.31803	N	0.628153	P;B;P;P;P;B;B	0.48350	0.848;0.049;0.835;0.552;0.909;0.03;0.087	B;B;B;B;B;B;B	0.37198	0.201;0.031;0.16;0.029;0.243;0.04;0.031	T	0.19943	-1.0290	10	0.22706	T	0.39	-6.0309	5.7861	0.18334	0.0:0.6974:0.0:0.3026	.	101;116;101;16;88;88;88	B4DSH7;E7EW45;B4DE15;Q8NBD6;P78381-3;P78381-2;P78381	.;.;.;.;.;.;S35A2_HUMAN	T	88;88;88;88;64;116;16;88	ENSP00000247138:A88T;ENSP00000365704:A88T;ENSP00000416002:A116T;ENSP00000415518:A16T	ENSP00000247138:A88T	A	-	1	0	SLC35A2	48652047	0.979000	0.34478	1.000000	0.80357	0.826000	0.46750	0.243000	0.18106	1.080000	0.41073	0.600000	0.82982	GCA		0.597	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		22	64	0	0	0	1	0	22	64					T	48767103	C	T	48767103	3	4	79	1	0	0	0	0	1	0	0	0	14621	768	27	1	1100	1	SLC35A2	23	48767103	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	92440	48767103	106503457	21327	31644											
KCND1	3750	broad.mit.edu	37	chrX	48823034	48823034	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgttgctgttcaaagGcagaacggttcctgacacaa	12	8	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48823034G>A	ENST00000218176.3	-	4	2715	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	473					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)	CTGTTCAAAGGCAGAACGGTT	0.547																																						ENST00000218176.3																			0				endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						c.(1417-1419)gCc>gTc		potassium voltage-gated channel, Shal-related subfamily, member 1							125	92	103					X																	48823034		2203	4300	6503	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48823034G>A	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.1418C>T	X.37:g.48823034G>A	ENSP00000218176:p.Ala473Val					KCND1_ENST00000376477.1_Missense_Mutation_p.A96V	p.A473V	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN			4	2715	-			473					A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.1418C>T	CCDS14314.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017964	0.35606	.	.	ENSG00000102057	ENST00000376477;ENST00000218176	D;D	0.82433	-1.61;-1.61	5.66	5.66	0.87406	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	L	0.51422	1.61	0.58432	D	0.999999	B	0.32467	0.372	B	0.32090	0.14	T	0.76069	-0.3094	10	0.22109	T	0.4	.	17.4122	0.87489	0.0:0.0:1.0:0.0	.	473	Q9NSA2	KCND1_HUMAN	V	96;473	ENSP00000365660:A96V;ENSP00000218176:A473V	ENSP00000218176:A473V	A	-	2	0	KCND1	48707978	0.998000	0.40836	0.986000	0.45419	0.413000	0.31143	8.771000	0.91751	2.381000	0.81170	0.523000	0.50628	GCC		0.547	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		7	92	0	0	0	1	0	7	92					A	48823034	G	A	48823034	3	1	79	1	0	0	0	0	1	0	0	0	8048	1203	42	2	537	2	KCND1	23	48823034	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	55931	48823034	106447526	21328	31645											
GRIPAP1	56850	broad.mit.edu	37	chrX	48840196	48840196	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcccctaccttccgagcCtcctgtaattcctgggtcaa	7	15	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48840196C>T	ENST00000376441.1	-	15	1297	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	GRIPAP1_ENST00000376444.3_Silent_p.E376E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Silent_p.E390E|GRIPAP1_ENST00000376423.4_Silent_p.E368E	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	421						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTTCCGAGCCTCCTGTAATT	0.517																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(1102-1104)gaG>gaA		GRIP1 associated protein 1							240	174	196					X																	48840196		2203	4300	6503	SO:0001819	synonymous_variant	56850					early endosome		g.chrX:48840196C>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1263G>A	X.37:g.48840196C>T						GRIPAP1_ENST00000376441.1_Silent_p.E421E|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Silent_p.E390E|GRIPAP1_ENST00000376444.3_Silent_p.E376E	p.E368E	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN			14	1136	-			421					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	37	c.1104G>A	CCDS35248.1																																																																																				0.517	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		97	394	0	0	0	1	0	97	394					T	48840196	C	T	48840196	2	4	79	1	0	0	0	0	0	0	0	1	6819	680	24	2		2	GRIPAP1	23	48840196	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17162	48840196	106430364	21329	31646											
TFE3	7030	broad.mit.edu	37	chrX	48888050	48888050	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagccgaagtcgtggccaaGgaaagcagccctggagtggg	17	9	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48888050G>T	ENST00000315869.7	-	10	1606	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	449					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCGTGGCCAAGGAAAGCAGCC	0.587			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																	ENST00000315869.7				Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"		"papillary renal, alveolar soft part sarcoma, renal"	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	0				central_nervous_system(1)	1						c.(1345-1347)tcC>tcA		transcription factor binding to IGHM enhancer 3							54	49	51					X																	48888050		2203	4300	6503	SO:0001819	synonymous_variant	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48888050G>T	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1347C>A	X.37:g.48888050G>T						TFE3_ENST00000493583.1_5'UTR	p.S449S	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN			10	1606	-			449					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	ENST00000315869.7	37	c.1347C>A	CCDS14315.3																																																																																				0.587	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		22	308	1	0	3.62473e-10	1	3.83521e-10	22	308					T	48888050	G	T	48888050	2	4	79	1	0	0	0	0	0	0	0	1	15852	987	35	3		3	TFE3	23	48888050	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	47854	48888050	106382510	21330	31647											
GPKOW	27238	broad.mit.edu	37	chrX	48972297	48972297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtccacaaaccgcacaCgcaggtccctgtgcaaccag	9	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48972297C>T	ENST00000156109.5	-	8	1166	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	363						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AAACCGCACACGCAGGTCCCT	0.582																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(1087-1089)cGt>cAt		G patch domain and KOW motifs							69	57	61					X																	48972297		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48972297C>T	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.1088G>A	X.37:g.48972297C>T	ENSP00000156109:p.Arg363His						p.R363H	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			8	1166	-			363					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.1088G>A	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946815	0.53186	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.49	3.7	0.42460	.	0.176102	0.47093	N	0.000246	T	0.73024	0.3534	M	0.87900	2.915	0.37697	D	0.924083	D	0.89917	1.0	D	0.71656	0.974	T	0.73241	-0.4045	9	0.23302	T	0.38	-2.0599	7.6099	0.28124	0.163:0.7496:0.0:0.0874	.	363	Q92917	GPKOW_HUMAN	H	363	.	ENSP00000156109:R363H	R	-	2	0	GPKOW	48859241	0.980000	0.34600	0.132000	0.22025	0.518000	0.34316	2.514000	0.45503	0.593000	0.29745	-0.217000	0.12591	CGT		0.582	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		41	118	0	0	0	1	0	41	118					T	48972297	C	T	48972297	3	4	79	1	0	0	0	0	1	0	0	0	6642	536	19	1	358	1	GPKOW	23	48972297	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	84247	48972297	106298263	21331	31648											
GPKOW	27238	broad.mit.edu	37	chrX	48973491	48973491	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccagacgaaccatggcccgaAcattgtcaggatcaaggcct	10	13	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48973491A>C	ENST00000156109.5	-	6	884	c.806T>G	c.(805-807)gTt>gGt	p.V269G		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	269						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CATGGCCCGAACATTGTCAGG	0.552																																						ENST00000156109.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						c.(805-807)gTt>gGt		G patch domain and KOW motifs							107	82	90					X																	48973491		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48973491A>C	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"G patch domain containing"	30677	protein-coding gene	gene with protein product	"G patch domain containing 5"					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.806T>G	X.37:g.48973491A>C	ENSP00000156109:p.Val269Gly						p.V269G	NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN			6	884	-			269					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.806T>G	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	A	8.494	0.862683	0.17178	.	.	ENSG00000068394	ENST00000156109	.	.	.	5.25	-0.978	0.10279	KOW (1);	0.400861	0.27181	N	0.020549	T	0.10035	0.0246	N	0.00729	-1.24	0.22552	N	0.998993	B	0.10296	0.003	B	0.14023	0.01	T	0.35176	-0.9799	9	0.22109	T	0.4	-3.7939	10.7501	0.46205	0.3003:0.0:0.6997:0.0	.	269	Q92917	GPKOW_HUMAN	G	269	.	ENSP00000156109:V269G	V	-	2	0	GPKOW	48860435	0.046000	0.20272	0.004000	0.12327	0.988000	0.76386	0.474000	0.22148	-0.121000	0.11787	0.483000	0.47432	GTT		0.552	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		59	212	0	0	0	1	0	59	212					C	48973491	A	C	48973491	3	2	79	1	0	0	0	0	1	0	0	0	6642	43	2	4	648	4	GPKOW	23	48973491	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1194	48973491	106297069	21332	31649											
MAGIX	79917	broad.mit.edu	37	chrX	49022434	49022434	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcatggccagatcgcaGcccagatcctggagggccgg	14	15	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49022434G>T	ENST00000412696.2	+	6	701	c.701G>T	c.(700-702)aGc>aTc	p.S234I	MAGIX_ENST00000376338.3_Missense_Mutation_p.S175I|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I|MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	234																	CCAGATCGCAGCCCAGATCCT	0.607																																						ENST00000376338.3																			0											c.(523-525)aGc>aTc		MAGI family member, X-linked							45	51	49					X																	49022434		2138	4216	6354	SO:0001583	missense	79917							g.chrX:49022434G>T	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.701G>T	X.37:g.49022434G>T	ENSP00000387928:p.Ser234Ile					MAGIX_ENST00000425661.2_Missense_Mutation_p.S158I|MAGIX_ENST00000412696.2_Missense_Mutation_p.S234I|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.S170I	p.S175I			Q9H6Y5	MAGIX_HUMAN			4	603	+			234			PDZ.		A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.524G>T	CCDS48106.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	10.73|10.73|10.73	1.433669|1.433669|1.433669	0.25813|0.25813|0.25813	.|.|.	.|.|.	ENSG00000017621|ENSG00000017621|ENSG00000017621	ENST00000415364|ENST00000458388|ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338;ENST00000425285;ENST00000454342	.|.|T;T;T;T;T;T	.|.|0.34275	.|.|1.77;2.11;1.76;1.63;1.47;1.37	3.86|3.86|3.86	1.96|1.96|1.96	0.26148|0.26148|0.26148	.|.|.	.|.|0.787278	.|.|0.10759	.|.|N	.|.|0.637462	T|T|T	0.18800|0.18800|0.18800	0.0451|0.0451|0.0451	N|N|N	0.12746|0.12746|0.12746	0.255|0.255|0.255	0.26823|0.26823|0.26823	N|N|N	0.968756|0.968756|0.968756	.|.|B;B;B;B;B	.|.|0.33022	.|.|0.394;0.132;0.208;0.208;0.15	.|.|B;B;B;B;B	.|.|0.30782	.|.|0.12;0.021;0.038;0.047;0.027	T|T|T	0.21280|0.21280|0.21280	-1.0250|-1.0250|-1.0250	5|5|10	.|.|0.21014	.|.|T	.|.|0.42	-0.3008|-0.3008|-0.3008	8.5271|8.5271|8.5271	0.33311|0.33311|0.33311	0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134|0.0:0.0:0.5866:0.4134	.|.|.	.|.|158;234;170;175;101	.|.|F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2;C9J123	.|.|.;MAGIX_HUMAN;.;.;.	S|H|I	198|158|170;158;234;175;175;101	.|.|ENSP00000365517:S170I;ENSP00000403515:S158I;ENSP00000387928:S234I;ENSP00000365516:S175I;ENSP00000411713:S175I;ENSP00000400147:S101I	.|.|ENSP00000365516:S175I	A|Q|S	+|+|+	1|3|2	0|2|0	MAGIX|MAGIX|MAGIX	48909378|48909378|48909378	0.431000|0.431000|0.431000	0.25546|0.25546|0.25546	0.645000|0.645000|0.645000	0.29479|0.29479|0.29479	0.039000|0.039000|0.039000	0.13416|0.13416|0.13416	1.343000|1.343000|1.343000	0.33930|0.33930|0.33930	0.206000|0.206000|0.206000	0.20587|0.20587|0.20587	0.538000|0.538000|0.538000	0.68166|0.68166|0.68166	GCC|CAG|AGC		0.607	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859		60	233	1	0	6.05568e-20	1	6.7715e-20	60	233					T	49022434	G	T	49022434	3	4	79	1	0	0	0	0	1	0	0	0	9234	971	34	3	763	3	MAGIX	23	49022434	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	48943	49022434	106248126	21333	31650											
CACNA1F	778	broad.mit.edu	37	chrX	49071930	49071930	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagacaatgaagaacaCtgagatctccacacggtaat	9	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49071930C>T	ENST00000376265.2	-	28	3404	c.3343G>A	c.(3343-3345)Gtg>Atg	p.V1115M	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1115	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGAAGAACACTGAGATCTCC	0.507																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3343-3345)Gtg>Atg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						117	89	98					X																	49071930		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071930C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3343G>A	X.37:g.49071930C>T	ENSP00000365441:p.Val1115Met					CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1050M|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1104M	p.V1115M	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			28	3404	-			1115			Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3343G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	15.58	2.875558	0.51695	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98684	-5.07;-5.07;-5.07	5.13	2.36	0.29203	Ion transport (1);	0.429330	0.22789	N	0.055631	D	0.96210	0.8764	L	0.41079	1.255	0.27141	N	0.961644	B;P	0.43314	0.225;0.803	B;B	0.42062	0.048;0.374	D	0.92451	0.5970	10	0.72032	D	0.01	.	7.5806	0.27963	0.0:0.5361:0.0:0.4639	.	1104;1115	F5CIQ9;O60840	.;CAC1F_HUMAN	M	1050;1104;1115	ENSP00000365427:V1050M;ENSP00000321618:V1104M;ENSP00000365441:V1115M	ENSP00000321618:V1104M	V	-	1	0	CACNA1F	48958874	0.971000	0.33674	0.597000	0.28824	0.952000	0.60782	1.968000	0.40500	0.391000	0.25143	0.597000	0.82753	GTG		0.507	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		31	110	0	0	0	1	0	31	110					T	49071930	C	T	49071930	3	4	79	1	0	0	0	0	1	0	0	0	2550	565	20	2	2674	2	CACNA1F	23	49071930	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	49496	49071930	106198630	21334	31651											
CACNA1F	778	broad.mit.edu	37	chrX	49079532	49079532	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggaagaggagaagcagcaaGgatgcgatggatttcattga	15	4	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49079532G>T	ENST00000376265.2	-	15	2035	c.1974C>A	c.(1972-1974)tcC>tcA	p.S658S	CACNA1F_ENST00000323022.5_Silent_p.S647S|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000376251.1_Silent_p.S593S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	658					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)	GAAGCAGCAAGGATGCGATGG	0.522																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(1972-1974)tcC>tcA		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						121	85	98					X																	49079532		2202	4298	6500	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49079532G>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1974C>A	X.37:g.49079532G>T						CACNA1F_ENST00000376251.1_Silent_p.S593S|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Silent_p.S647S	p.S658S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			15	2035	-			658					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.1974C>A	CCDS35253.1																																																																																				0.522	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		8	51	1	0	1.12685e-05	1	1.15515e-05	8	51					T	49079532	G	T	49079532	2	4	79	1	0	0	0	0	0	0	0	1	2550	987	35	3		3	CACNA1F	23	49079532	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7602	49079532	106191028	21335	31652											
CACNA1F	778	broad.mit.edu	37	chrX	49088333	49088333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgggggcccggggcacaGcccccattcgggaccagggc	17	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49088333G>A	ENST00000376265.2	-	2	143	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	CACNA1F_ENST00000323022.5_Silent_p.L28L|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	28					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)	CCGGGGCACAGCCCCCATTCG	0.622																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(82-84)Ctg>Ttg		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						24	21	22					X																	49088333		2172	4249	6421	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49088333G>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.82C>T	X.37:g.49088333G>A						CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Silent_p.L28L	p.L28L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			2	143	-			28					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.82C>T	CCDS35253.1																																																																																				0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		19	40	0	0	0	1	0	19	40					A	49088333	G	A	49088333	2	1	79	1	0	0	0	0	0	0	0	1	2550	962	34	2		2	CACNA1F	23	49088333	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8801	49088333	106182227	21336	31653											
AKAP4	8852	broad.mit.edu	37	chrX	49957076	49957076	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctatttgtagagcactgaTtattgacaattacttcatgt	7	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957076T>G	ENST00000376056.2	-	5	2411	c.2261A>C	c.(2260-2262)aAt>aCt	p.N754T	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T					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)					AGAGCACTGATTATTGACAAT	0.478																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2260-2262)aAt>aCt		A kinase (PRKA) anchor protein 4							88	62	70					X																	49957076		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957076T>G	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.2261A>C	X.37:g.49957076T>G	ENSP00000365224:p.Asn754Thr					AKAP4_ENST00000376058.2_Missense_Mutation_p.N380T|AKAP4_ENST00000358526.2_Missense_Mutation_p.N763T|AKAP4_ENST00000376064.3_Missense_Mutation_p.N754T|AKAP4_ENST00000481402.1_5'UTR	p.N754T			Q5JQC9	AKAP4_HUMAN			5	2411	-	Ovarian(276;0.236)		763						Missense_Mutation	SNP	ENST00000376056.2	37	c.2261A>C	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048370	0.36181	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.83	4.83	0.62350	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.56097	D	0.000023	T	0.35624	0.0938	M	0.77820	2.39	0.30941	N	0.725794	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.41716	-0.9493	9	.	.	.	-21.6637	9.9508	0.41638	0.0:0.0:0.0:1.0	.	763;380	Q5JQC9;A6ND82	AKAP4_HUMAN;.	T	754;380;763;754	ENSP00000365224:N754T;ENSP00000365226:N380T;ENSP00000351327:N763T;ENSP00000365232:N754T	.	N	-	2	0	AKAP4	49843816	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	2.898000	0.48672	1.613000	0.50231	0.430000	0.28490	AAT		0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		21	60	0	0	0	1	0	21	60					G	49957076	T	G	49957076	3	3	79	1	0	0	0	0	1	0	0	0	453	1493	52	4	284	4	AKAP4	23	49957076	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	868743	49957076	105313484	21337	31654											
AKAP4	8852	broad.mit.edu	37	chrX	49957477	49957477	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgaatcagcattagaacGatgtttgacatatccatttt	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957477G>A	ENST00000376056.2	-	5	2010	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376064.3_Silent_p.I620I					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)					GCATTAGAACGATGTTTGACA	0.458																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1858-1860)atC>atT		A kinase (PRKA) anchor protein 4							164	137	146					X																	49957477		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957477G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1860C>T	X.37:g.49957477G>A						AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376064.3_Silent_p.I620I|AKAP4_ENST00000481402.1_5'UTR	p.I620I			Q5JQC9	AKAP4_HUMAN			5	2010	-	Ovarian(276;0.236)		629						Silent	SNP	ENST00000376056.2	37	c.1860C>T	CCDS14330.1																																																																																				0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		162	616	0	0	0	1	0	162	616					A	49957477	G	A	49957477	2	1	79	1	0	0	0	0	0	0	0	1	453	1048	37	1		1	AKAP4	23	49957477	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	401	49957477	105313083	21338	31655											
DGKK	139189	broad.mit.edu	37	chrX	50144087	50144087	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatgactgatgagcgatgGcttctgaagcaacattcctt	11	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144087G>A	ENST00000376025.2	-	0	1418							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)					ATGAGCGATGGCTTCTGAAGC	0.473																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							77	67	70					X																	50144087		1957	4138	6095			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50144087G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50144087G>A										Q5KSL6	DGKK_HUMAN			0	1418	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		14	42	0	0	0	1	0	14	42					A	50144087	G	A	50144087	1	1	79	0	1	0	0	0	0	0	0	0	4488	1194	42	2		2	DGKK	23	50144087	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	186610	50144087	105126473	21339	31656											
DGKK	139189	broad.mit.edu	37	chrX	50144126	50144126	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaccgtctcctacaGtcatcatgcacctgaaacga	7	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144126G>T	ENST00000376025.2	-	0	1379							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)					GTCTCCTACAGTCATCATGCA	0.458																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							60	50	53					X																	50144126		1919	4123	6042			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50144126G>T	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.50144126G>T										Q5KSL6	DGKK_HUMAN			0	1379	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.458	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		14	35	1	0	1.5842e-08	1	1.65642e-08	14	35					T	50144126	G	T	50144126	1	4	79	0	1	0	0	0	0	0	0	0	4488	1020	36	3		3	DGKK	23	50144126	RNA	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39	50144126	105126434	21340	31657											
SHROOM4	57477	broad.mit.edu	37	chrX	50350432	50350432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaaagcccaccaatgCcatagtagcaagggggctga	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50350432C>T	ENST00000289292.7	-	6	3993	c.3710G>A	c.(3709-3711)gGc>gAc	p.G1237D	SHROOM4_ENST00000376020.2_Missense_Mutation_p.G1237D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1237	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)					CCCACCAATGCCATAGTAGCA	0.507																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3709-3711)gGc>gAc		shroom family member 4							69	59	62					X																	50350432		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350432C>T	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.3710G>A	X.37:g.50350432C>T	ENSP00000289292:p.Gly1237Asp					SHROOM4_ENST00000289292.7_Missense_Mutation_p.G1237D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G1121D	p.G1237D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3735	-	Ovarian(276;0.236)		1237			ASD2.		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.3710G>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393881	0.42410	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.28666	1.6;1.6;1.6	4.39	4.39	0.52855	Apx/shroom, ASD2 (2);	0.202088	0.33980	N	0.004366	T	0.36193	0.0958	N	0.22421	0.69	0.39622	D	0.970049	D	0.89917	1.0	D	0.97110	1.0	T	0.06197	-1.0840	10	0.18276	T	0.48	.	11.2573	0.49060	0.0:1.0:0.0:0.0	.	1237	Q9ULL8	SHRM4_HUMAN	D	1237;1237;1121	ENSP00000289292:G1237D;ENSP00000365188:G1237D;ENSP00000421450:G1121D	ENSP00000289292:G1237D	G	-	2	0	SHROOM4	50367172	0.967000	0.33354	0.959000	0.39883	0.982000	0.71751	2.926000	0.48892	2.427000	0.82271	0.513000	0.50165	GGC		0.507	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		40	225	0	0	0	1	0	40	225					T	50350432	C	T	50350432	3	4	79	1	0	0	0	0	1	0	0	0	14346	739	26	2	787	2	SHROOM4	23	50350432	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	206306	50350432	104920128	21341	31658											
SHROOM4	57477	broad.mit.edu	37	chrX	50376791	50376791	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agaggatggcatcctccccaGcttgagcagtagaagccttc	11	12	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50376791G>T	ENST00000289292.7	-	4	2565	c.2282C>A	c.(2281-2283)gCt>gAt	p.A761D	SHROOM4_ENST00000376020.2_Missense_Mutation_p.A761D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D			Q9ULL8	SHRM4_HUMAN	shroom family member 4	761					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)					ATCCTCCCCAGCTTGAGCAGT	0.478																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2281-2283)gCt>gAt		shroom family member 4							55	54	54					X																	50376791		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376791G>T	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.2282C>A	X.37:g.50376791G>T	ENSP00000289292:p.Ala761Asp					SHROOM4_ENST00000289292.7_Missense_Mutation_p.A761D|SHROOM4_ENST00000460112.3_Missense_Mutation_p.A645D	p.A761D	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	2307	-	Ovarian(276;0.236)		761					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2282C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	9.913	1.210131	0.22289	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88201	-2.35;-2.35;-2.35	5.74	4.88	0.63580	.	0.306844	0.30556	N	0.009371	T	0.79221	0.4409	L	0.32530	0.975	0.37514	D	0.917255	P	0.42409	0.779	B	0.32289	0.143	T	0.79596	-0.1738	10	0.44086	T	0.13	.	8.4126	0.32653	0.0831:0.0:0.7634:0.1535	.	761	Q9ULL8	SHRM4_HUMAN	D	761;761;645	ENSP00000289292:A761D;ENSP00000365188:A761D;ENSP00000421450:A645D	ENSP00000289292:A761D	A	-	2	0	SHROOM4	50393531	0.450000	0.25697	0.993000	0.49108	0.783000	0.44284	1.445000	0.35079	1.182000	0.42928	0.600000	0.82982	GCT		0.478	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		89	301	1	0	1.51503e-27	1	1.75539e-27	89	301					T	50376791	G	T	50376791	3	4	79	1	0	0	0	0	1	0	0	0	14346	971	34	3	2223	3	SHROOM4	23	50376791	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26359	50376791	104893769	21342	31659											
SHROOM4	57477	broad.mit.edu	37	chrX	50377526	50377526	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattcactggctgctctgCttgttctgtttgggtccagg	11	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50377526C>T	ENST00000289292.7	-	4	1830	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S516N|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N			Q9ULL8	SHRM4_HUMAN	shroom family member 4	516					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)					GGCTGCTCTGCTTGTTCTGTT	0.532																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1546-1548)aGc>aAc		shroom family member 4							66	53	57					X																	50377526		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377526C>T	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.1547G>A	X.37:g.50377526C>T	ENSP00000289292:p.Ser516Asn					SHROOM4_ENST00000289292.7_Missense_Mutation_p.S516N|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S400N	p.S516N	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1572	-	Ovarian(276;0.236)		516					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1547G>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.626808	0.00813	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15256	2.82;2.82;2.44	4.46	0.495	0.16890	.	0.850755	0.10644	N	0.650629	T	0.12561	0.0305	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	10	0.20519	T	0.43	.	4.3673	0.11230	0.1676:0.5467:0.0:0.2856	.	516	Q9ULL8	SHRM4_HUMAN	N	516;516;400	ENSP00000289292:S516N;ENSP00000365188:S516N;ENSP00000421450:S400N	ENSP00000289292:S516N	S	-	2	0	SHROOM4	50394266	0.000000	0.05858	0.019000	0.16419	0.141000	0.21300	-0.007000	0.12810	-0.044000	0.13491	0.600000	0.82982	AGC		0.532	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		13	414	0	0	0	1	0	13	414					T	50377526	C	T	50377526	3	4	79	1	0	0	0	0	1	0	0	0	14346	797	28	2	2958	2	SHROOM4	23	50377526	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	735	50377526	104893034	21343	31660											
BMP15	9210	broad.mit.edu	37	chrX	50659581	50659581	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggagtatgagggtatgAttgctgagtcttgtacatgc	13	5	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50659581A>G	ENST00000252677.3	+	2	1153	c.1153A>G	c.(1153-1155)Att>Gtt	p.I385V		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	385					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)					TGAGGGTATGATTGCTGAGTC	0.443																																						ENST00000252677.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(1153-1155)Att>Gtt		bone morphogenetic protein 15							108	99	102					X																	50659581		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659581A>G	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.1153A>G	X.37:g.50659581A>G	ENSP00000252677:p.Ile385Val						p.I385V	NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN			2	1153	+	Ovarian(276;0.236)		385					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1153A>G	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	a	7.189	0.591080	0.13812	.	.	ENSG00000130385	ENST00000252677	D	0.83419	-1.72	5.58	4.43	0.53597	Transforming growth factor-beta, C-terminal (3);	0.231421	0.45361	D	0.000375	T	0.62696	0.2449	N	0.12663	0.25	0.47441	D	0.999426	B	0.31769	0.339	B	0.32624	0.149	T	0.61787	-0.6991	10	0.02654	T	1	.	8.0656	0.30659	0.9042:0.0:0.0958:0.0	.	385	O95972	BMP15_HUMAN	V	385	ENSP00000252677:I385V	ENSP00000252677:I385V	I	+	1	0	BMP15	50676321	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	1.689000	0.37700	1.876000	0.54355	0.481000	0.45027	ATT		0.443	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		18	545	0	0	0	1	0	18	545					G	50659581	A	G	50659581	3	3	79	1	0	0	0	0	1	0	0	0	1460	333	12	4	1159	4	BMP15	23	50659581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	282055	50659581	104610979	21344	31661											
NUDT11	55190	broad.mit.edu	37	chrX	51239242	51239242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacaggcacgccgcccGcttcttgaacccctcggggt	12	16	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:51239242G>A	ENST00000375992.3	-	1	206	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	19	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.|Substrate binding. {ECO:0000250}.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CACGCCGCCCGCTTCTTGAAC	0.672										HNSCC(48;0.14)																											GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9						c.(55-57)Cgg>Tgg		nudix (nucleoside diphosphate linked moiety X)-type motif 11							22	21	21					X																	51239242		2201	4298	6499	SO:0001583	missense	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239242G>A	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531	ENST00000375992.3:c.55C>T	X.37:g.51239242G>A	ENSP00000365160:p.Arg19Trp	HNSCC(48;0.14)					p.R19W	NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			1	206	-	Ovarian(276;0.236)		19			Nudix hydrolase.|Substrate binding (By similarity).		Q9NVN0	Missense_Mutation	SNP	ENST00000375992.3	37	c.55C>T	CCDS43952.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532862	0.64972	.	.	ENSG00000196368	ENST00000375992	T	0.43688	0.94	3.14	2.25	0.28309	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.93420	3.415	0.46260	D	0.998958	D	0.89917	1.0	D	0.97110	1.0	T	0.77683	-0.2496	9	0.59425	D	0.04	-21.8399	9.3444	0.38100	0.0:0.2171:0.7829:0.0	.	19	Q96G61	NUD11_HUMAN	W	19	ENSP00000365160:R19W	ENSP00000365160:R19W	R	-	1	2	NUDT11	51255982	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.615000	0.36922	0.502000	0.28037	0.544000	0.68410	CGG		0.672	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	137	0	0	0	1	0	7	137					A	51239242	G	A	51239242	3	1	79	1	0	0	0	0	1	0	0	0	10769	1086	38	1	447	1	NUDT11	23	51239242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	579661	51239242	104031318	21345	31662											
SSX7	280658	broad.mit.edu	37	chrX	52681355	52681355	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattcccctggaggtctgtgGcccctgtattatgcatgaaa	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:52681355G>A	ENST00000298181.5	-	4	385	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	76	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GAGGTCTGTGGCCCCTGTATT	0.507																																						ENST00000298181.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16						c.(226-228)gCc>gTc		synovial sarcoma, X breakpoint 7							172	153	159					X																	52681355		2203	4300	6503	SO:0001583	missense	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52681355G>A	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.227C>T	X.37:g.52681355G>A	ENSP00000298181:p.Ala76Val						p.A76V	NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN			4	385	-	Ovarian(276;0.236)		76			KRAB-related.			Missense_Mutation	SNP	ENST00000298181.5	37	c.227C>T	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	4.896	0.166444	0.09339	.	.	ENSG00000187754	ENST00000298181	T	0.10005	2.92	0.725	-0.332	0.12675	Krueppel-associated box (2);Krueppel-associated box-related (1);	1.551260	0.03863	N	0.274301	T	0.10165	0.0249	L	0.41573	1.285	0.09310	N	1	B	0.19331	0.035	B	0.23852	0.049	T	0.36578	-0.9742	9	0.36615	T	0.2	.	.	.	.	.	76	Q7RTT5	SSX7_HUMAN	V	76	ENSP00000298181:A76V	ENSP00000298181:A76V	A	-	2	0	SSX7	52698080	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.207000	0.17395	-0.196000	0.10366	0.409000	0.27619	GCC		0.507	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		155	524	0	0	0	1	0	155	524					A	52681355	G	A	52681355	3	1	79	1	0	0	0	0	1	0	0	0	15261	1203	42	2	355	2	SSX7	23	52681355	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1442113	52681355	102589205	21346	31663											
GPR173	54328	broad.mit.edu	37	chrX	53106692	53106692	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgatcacactgctctttctgCtcctctggtcaccctacatc	5	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53106692C>A	ENST00000332582.4	+	2	1380	c.889C>A	c.(889-891)Ctc>Atc	p.L297I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	297					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCTCTTTCTGCTCCTCTGGTC	0.592																																						ENST00000332582.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(889-891)Ctc>Atc		G protein-coupled receptor 173							120	73	89					X																	53106692		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53106692C>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.889C>A	X.37:g.53106692C>A	ENSP00000331600:p.Leu297Ile						p.L297I	NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN			2	1380	+			297					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.889C>A	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713333	0.30413	.	.	ENSG00000184194	ENST00000332582	T	0.37411	1.2	5.03	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.155901	0.41823	D	0.000820	T	0.29588	0.0738	L	0.46157	1.445	0.38960	D	0.958531	B	0.10296	0.003	B	0.18871	0.023	T	0.11743	-1.0575	10	0.23891	T	0.37	-11.5774	10.308	0.43691	0.0:0.6608:0.3392:0.0	.	297	Q9NS66	GP173_HUMAN	I	297	ENSP00000331600:L297I	ENSP00000331600:L297I	L	+	1	0	GPR173	53123417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.113000	0.41902	2.094000	0.63399	0.529000	0.55759	CTC		0.592	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		42	148	1	0	4.32679e-17	1	4.76816e-17	42	148					A	53106692	C	A	53106692	3	1	79	1	0	0	0	0	1	0	0	0	6700	797	28	3	891	3	GPR173	23	53106692	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	425337	53106692	102163868	21347	31664											
KDM5C	8242	broad.mit.edu	37	chrX	53245326	53245326	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttggggcctgccccatagatCtgtagctttttcagctctgg	11	11	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53245326C>A	ENST00000375401.3	-	6	1243	c.711G>T	c.(709-711)caG>caT	p.Q237H	KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000452825.3_Missense_Mutation_p.Q170H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	237					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						CCCCATAGATCTGTAGCTTTT	0.532			"N, F, S"		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"N, F, S"	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(508-510)caG>caT		lysine (K)-specific demethylase 5C							113	101	105					X																	53245326		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53245326C>A	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.711G>T	X.37:g.53245326C>A	ENSP00000364550:p.Gln237His					KDM5C_ENST00000404049.3_Missense_Mutation_p.Q236H|KDM5C_ENST00000375401.3_Missense_Mutation_p.Q237H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q196H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q237H	p.Q170H	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			4	1042	-			237					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.510G>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380961	0.61845	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87966	-2.32;-2.0;-2.01;-2.0;-2.16	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.92704	0.7681	M	0.83953	2.67	0.47659	D	0.999484	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.984;0.984	D	0.92310	0.5857	10	0.72032	D	0.01	-24.0144	10.1738	0.42927	0.0:0.8985:0.0:0.1015	.	170;236;237	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	H	170;237;236;237;196	ENSP00000445176:Q170H;ENSP00000364550:Q237H;ENSP00000385394:Q236H;ENSP00000364528:Q237H;ENSP00000364532:Q196H	ENSP00000364528:Q237H	Q	-	3	2	KDM5C	53262051	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.989000	0.56958	0.841000	0.35020	0.529000	0.55759	CAG		0.532	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		107	364	1	0	1.90623e-60	1	2.39773e-60	107	364					A	53245326	C	A	53245326	3	1	79	1	0	0	0	0	1	0	0	0	8165	912	32	3	4153	3	KDM5C	23	53245326	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	138634	53245326	102025234	21348	31665											
SMC1A	8243	broad.mit.edu	37	chrX	53439881	53439881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatctgctgctgctcccGcatcattttgcccagctcct	6	17	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53439881G>A	ENST00000322213.4	-	5	950	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	275					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						tgctgctcccgcatcattttg	0.507																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(823-825)Cgg>Tgg		structural maintenance of chromosomes 1A							156	129	139					X																	53439881		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439881G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.823C>T	X.37:g.53439881G>A	ENSP00000323421:p.Arg275Trp					SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.R275W	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			5	950	-			275					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.823C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726948	0.48833	.	.	ENSG00000072501	ENST00000322213	T	0.78924	-1.22	4.4	4.4	0.53042	RecF/RecN/SMC (1);	0.124433	0.50627	D	0.000101	D	0.88926	0.6570	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.984	D	0.90213	0.4266	10	0.87932	D	0	.	9.5439	0.39268	0.0:0.0:0.6544:0.3456	.	253;275;275	Q6MZR8;A8K7A6;Q14683	.;.;SMC1A_HUMAN	W	275	ENSP00000323421:R275W	ENSP00000323421:R275W	R	-	1	2	SMC1A	53456606	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.262000	0.43285	1.941000	0.56285	0.436000	0.28706	CGG		0.507	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		37	111	0	0	0	1	0	37	111					A	53439881	G	A	53439881	3	1	79	1	0	0	0	0	1	0	0	0	14831	1086	38	1	2962	1	SMC1A	23	53439881	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	194555	53439881	101830679	21349	31666											
RIBC1	158787	broad.mit.edu	37	chrX	53456828	53456828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagtaaccagctgcgcctcGccatggatgcacaggccacc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53456828G>A	ENST00000375327.3	+	6	724	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	191										lung(2)	2						GCTGCGCCTCGCCATGGATGC	0.577																																						ENST00000375327.3																			0				lung(2)	2						c.(571-573)Gcc>Acc		RIB43A domain with coiled-coils 1							74	57	63					X																	53456828		2203	4300	6503	SO:0001583	missense	158787							g.chrX:53456828G>A	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.571G>A	X.37:g.53456828G>A	ENSP00000364476:p.Ala191Thr					RIBC1_ENST00000414955.2_Missense_Mutation_p.A76T	p.A191T	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN			6	724	+			191					B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	c.571G>A	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610732	0.46527	.	.	ENSG00000158423	ENST00000414955;ENST00000375327	T;T	0.23348	1.91;1.91	5.6	5.6	0.85130	.	0.265038	0.36482	N	0.002566	T	0.30008	0.0751	M	0.69823	2.125	0.09310	N	0.999999	D;P	0.53151	0.958;0.835	B;B	0.41466	0.358;0.147	T	0.37596	-0.9699	10	0.23302	T	0.38	-2.4089	15.48	0.75517	0.0:0.0:1.0:0.0	.	76;191	E9PDU2;Q8N443	.;RIBC1_HUMAN	T	76;191	ENSP00000401463:A76T;ENSP00000364476:A191T	ENSP00000364476:A191T	A	+	1	0	RIBC1	53473553	0.919000	0.31177	0.454000	0.27019	0.407000	0.30961	4.732000	0.62029	2.364000	0.80123	0.384000	0.25694	GCC		0.577	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		45	141	0	0	0	1	0	45	141					A	53456828	G	A	53456828	3	1	79	1	0	0	0	0	1	0	0	0	13402	1087	38	1	620	1	RIBC1	23	53456828	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16947	53456828	101813732	21350	31667											
HUWE1	10075	broad.mit.edu	37	chrX	53575044	53575044	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctcactggcactgacTtcacggagttcttgcctttc	9	14	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53575044T>A	ENST00000342160.3	-	67	10683	c.10226A>T	c.(10225-10227)aAg>aTg	p.K3409M	HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3409					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						TGGCACTGACTTCACGGAGTT	0.547																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(10225-10227)aAg>aTg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							65	51	56					X																	53575044		2203	4299	6502	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53575044T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10226A>T	X.37:g.53575044T>A	ENSP00000340648:p.Lys3409Met					HUWE1_ENST00000262854.6_Missense_Mutation_p.K3409M	p.K3409M			Q7Z6Z7	HUWE1_HUMAN			67	10683	-			3409					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.10226A>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.07|13.07	2.128357|2.128357	0.37533|0.37533	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.41065	.|1.01;1.01	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.436137	.|0.19696	.|N	.|0.108158	T|T	0.60547|0.60547	0.2277|0.2277	L|L	0.59436|0.59436	1.845|1.845	0.54753|0.54753	D|D	0.999987|0.999987	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.984;0.993	T|T	0.62774|0.62774	-0.6783|-0.6783	5|10	.|0.72032	.|D	.|0.01	.|.	13.5123|13.5123	0.61519|0.61519	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3409;3393	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	D|M	2442;246|3409	.|ENSP00000340648:K3409M;ENSP00000262854:K3409M	.|ENSP00000262854:K3409M	E|K	-|-	3|2	2|0	HUWE1|HUWE1	53591769|53591769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.307000|5.307000	0.65762|0.65762	1.834000|1.834000	0.53371|0.53371	0.425000|0.425000	0.28330|0.28330	GAA|AAG		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		29	70	0	0	0	1	0	29	70					A	53575044	T	A	53575044	3	1	79	1	0	0	0	0	1	0	0	0	7491	1609	56	5	2966	5	HUWE1	23	53575044	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	118216	53575044	101695516	21351	31668											
HUWE1	10075	broad.mit.edu	37	chrX	53579602	53579602	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacacatgcttacctgTcctcaggtggctgggcagat	11	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53579602T>C	ENST00000342160.3	-	61	9204	c.8747A>G	c.(8746-8748)gAc>gGc	p.D2916G	HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2916					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						TGCTTACCTGTCCTCAGGTGG	0.542																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(8746-8748)gAc>gGc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							73	75	74					X																	53579602		2201	4298	6499	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53579602T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8747A>G	X.37:g.53579602T>C	ENSP00000340648:p.Asp2916Gly					HUWE1_ENST00000262854.6_Missense_Mutation_p.D2916G	p.D2916G			Q7Z6Z7	HUWE1_HUMAN			61	9204	-			2916					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.8747A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484049	0.26598	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.38077	1.16;1.16	6.08	6.08	0.98989	.	0.451805	0.25774	N	0.028384	T	0.20981	0.0505	N	0.14661	0.345	0.36000	D	0.837342	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24119	-1.0169	10	0.25751	T	0.34	.	9.0556	0.36403	0.0:0.0833:0.0:0.9167	.	2916;2916	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	2916	ENSP00000340648:D2916G;ENSP00000262854:D2916G	ENSP00000262854:D2916G	D	-	2	0	HUWE1	53596327	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	2.535000	0.45685	2.058000	0.61347	0.486000	0.48141	GAC		0.542	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		142	435	0	0	0	1	0	142	435					C	53579602	T	C	53579602	3	2	79	1	0	0	0	0	1	0	0	0	7491	1667	58	4	4469	4	HUWE1	23	53579602	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	4558	53579602	101690958	21352	31669											
HUWE1	10075	broad.mit.edu	37	chrX	53631738	53631738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagggctccagggaggagaGgatggagtccaactgaagga	17	6	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53631738G>A	ENST00000342160.3	-	25	3011	c.2554C>T	c.(2554-2556)Ctc>Ttc	p.L852F	HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F|HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	852					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						AGGGAGGAGAGGATGGAGTCC	0.493																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(2554-2556)Ctc>Ttc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							65	63	64					X																	53631738		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53631738G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2554C>T	X.37:g.53631738G>A	ENSP00000340648:p.Leu852Phe					HUWE1_ENST00000262854.6_Missense_Mutation_p.L852F|HUWE1_ENST00000218328.8_Missense_Mutation_p.L852F	p.L852F			Q7Z6Z7	HUWE1_HUMAN			25	3011	-			852					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2554C>T	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267939	0.80469	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.54279	0.88;0.88;0.58	5.88	5.88	0.94601	.	0.197114	0.33534	N	0.004814	T	0.71239	0.3316	L	0.61218	1.895	0.51767	D	0.999938	D	0.89917	1.0	D	0.76071	0.987	T	0.72997	-0.4121	10	0.72032	D	0.01	.	17.8502	0.88744	0.0:0.0:1.0:0.0	.	852	Q7Z6Z7	HUWE1_HUMAN	F	852	ENSP00000340648:L852F;ENSP00000262854:L852F;ENSP00000218328:L852F	ENSP00000218328:L852F	L	-	1	0	HUWE1	53648463	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.910000	0.63321	2.489000	0.83994	0.600000	0.82982	CTC		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		7	224	0	0	0	1	0	7	224					A	53631738	G	A	53631738	3	1	79	1	0	0	0	0	1	0	0	0	7491	1000	35	2	10806	2	HUWE1	23	53631738	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	52136	53631738	101638822	21353	31670											
HUWE1	10075	broad.mit.edu	37	chrX	53674485	53674485	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtattccatcgaagcgGtccaacaggtccacccagtg	10	14	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53674485G>A	ENST00000342160.3	-	5	634	c.177C>T	c.(175-177)gaC>gaT	p.D59D	HUWE1_ENST00000262854.6_Silent_p.D59D|HUWE1_ENST00000218328.8_Silent_p.D59D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	59					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						CATCGAAGCGGTCCAACAGGT	0.483																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(175-177)gaC>gaT		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							173	155	161					X																	53674485		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53674485G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.177C>T	X.37:g.53674485G>A						HUWE1_ENST00000262854.6_Silent_p.D59D|HUWE1_ENST00000218328.8_Silent_p.D59D	p.D59D			Q7Z6Z7	HUWE1_HUMAN			5	634	-			59					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.177C>T	CCDS35301.1																																																																																				0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		127	419	0	0	0	1	0	127	419					A	53674485	G	A	53674485	2	1	79	1	0	0	0	0	0	0	0	1	7491	1252	44	2		2	HUWE1	23	53674485	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42747	53674485	101596075	21354	31671											
FAM120C	54954	broad.mit.edu	37	chrX	54185844	54185844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaattcatcctcttcaggCccagctgcttggctacttct	8	13	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54185844C>T	ENST00000375180.2	-	2	961	c.905G>A	c.(904-906)gGc>gAc	p.G302D	FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	302							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						CCTCTTCAGGCCCAGCTGCTT	0.468																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(904-906)gGc>gAc		family with sequence similarity 120C							106	85	92					X																	54185844		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54185844C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.905G>A	X.37:g.54185844C>T	ENSP00000364324:p.Gly302Asp					FAM120C_ENST00000328235.4_Missense_Mutation_p.G302D	p.G302D	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			2	961	-			302					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.905G>A	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	c	11.40	1.627179	0.28978	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.40476	1.03;1.03	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	N	0.20986	0.625	0.80722	D	1	B;B	0.31879	0.159;0.344	B;B	0.36666	0.23;0.217	T	0.11743	-1.0575	10	0.25751	T	0.34	-5.9882	16.37	0.83353	0.0:1.0:0.0:0.0	.	302;302	F8W881;Q9NX05	.;F120C_HUMAN	D	302	ENSP00000364324:G302D;ENSP00000329896:G302D	ENSP00000329896:G302D	G	-	2	0	FAM120C	54202569	0.852000	0.29690	0.995000	0.50966	0.831000	0.47069	1.193000	0.32162	2.118000	0.64928	0.502000	0.49764	GGC		0.468	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		66	229	0	0	0	1	0	66	229					T	54185844	C	T	54185844	3	4	79	1	0	0	0	0	1	0	0	0	5439	739	26	2	2445	2	FAM120C	23	54185844	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	511359	54185844	101084716	21355	31672											
FGD1	2245	broad.mit.edu	37	chrX	54473856	54473856	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaggaagctgcagatgAcgctgttctctgcagccact	12	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54473856A>G	ENST00000375135.3	-	17	3201	c.2468T>C	c.(2467-2469)gTc>gCc	p.V823A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	823	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)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGCAGATGACGCTGTTCTC	0.532																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2467-2469)gTc>gCc		FYVE, RhoGEF and PH domain containing 1							89	52	65					X																	54473856		2203	4299	6502	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54473856A>G	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2468T>C	X.37:g.54473856A>G	ENSP00000364277:p.Val823Ala						p.V823A	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			17	3201	-			823			PH 2.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2468T>C	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.625943	0.66901	.	.	ENSG00000102302	ENST00000375135	T	0.12879	2.64	5.33	5.33	0.75918	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.325727	0.22324	N	0.061559	T	0.15219	0.0367	L	0.41236	1.265	0.40850	D	0.983745	B	0.22983	0.078	B	0.29440	0.102	T	0.03514	-1.1029	10	0.66056	D	0.02	-5.9167	13.3064	0.60355	1.0:0.0:0.0:0.0	.	823	P98174	FGD1_HUMAN	A	823	ENSP00000364277:V823A	ENSP00000364277:V823A	V	-	2	0	FGD1	54490581	1.000000	0.71417	0.994000	0.49952	0.946000	0.59487	8.526000	0.90588	1.784000	0.52394	0.430000	0.28490	GTC		0.532	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		25	84	0	0	0	1	0	25	84					G	54473856	A	G	54473856	3	3	79	1	0	0	0	0	1	0	0	0	5857	275	10	4	425	4	FGD1	23	54473856	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	288012	54473856	100796704	21356	31673											
FGD1	2245	broad.mit.edu	37	chrX	54496518	54496518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttcctcctcctcctcGtcgtcctcctcctccaggtc	4	21	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496518G>A	ENST00000375135.3	-	4	1765	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	344					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D344D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcctcgtcgtcctcct	0.632																																						ENST00000375135.3																			1	Substitution - coding silent(1)	p.D344D(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1030-1032)gaC>gaT		FYVE, RhoGEF and PH domain containing 1							34	31	32					X																	54496518		2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496518G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1032C>T	X.37:g.54496518G>A							p.D344D	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			4	1765	-			344					Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.1032C>T	CCDS14359.1																																																																																				0.632	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		35	102	0	0	0	1	0	35	102					A	54496518	G	A	54496518	2	1	79	1	0	0	0	0	0	0	0	1	5857	1136	40	1		1	FGD1	23	54496518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22662	54496518	100774042	21357	31674											
FGD1	2245	broad.mit.edu	37	chrX	54496845	54496845	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggctctgggggacctggGctggggccagggactggtct	19	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496845G>A	ENST00000375135.3	-	4	1438	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	235	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGACCTGGGCTGGGGCCAG	0.642																																						ENST00000375135.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(703-705)agC>agT		FYVE, RhoGEF and PH domain containing 1							28	34	32					X																	54496845		2197	4286	6483	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54496845G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.705C>T	X.37:g.54496845G>A							p.S235S	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			4	1438	-			235			Pro-rich.		Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.705C>T	CCDS14359.1																																																																																				0.642	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		22	85	0	0	0	1	0	22	85					A	54496845	G	A	54496845	2	1	79	1	0	0	0	0	0	0	0	1	5857	1194	42	2		2	FGD1	23	54496845	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	327	54496845	100773715	21358	31675											
ITIH5L	347365	broad.mit.edu	37	chrX	54783453	54783453	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtgggttcaaggactccacGaacttggattccaccattga	11	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783453G>A	ENST00000218436.6	-	8	3083	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1018					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										AGGACTCCACGAACTTGGATT	0.522																																						ENST00000218436.6																			0											c.(3052-3054)ttC>ttT		inter-alpha-trypsin inhibitor heavy chain family, member 6							83	67	72					X																	54783453		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783453G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3054C>T	X.37:g.54783453G>A							p.F1018F	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	3083	-			1018					A6NN03	Silent	SNP	ENST00000218436.6	37	c.3054C>T	CCDS14361.1																																																																																				0.522	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		31	108	0	0	0	1	0	31	108					A	54783453	G	A	54783453	2	1	79	1	0	0	0	0	0	0	0	1	7938	1049	37	1		1	ITIH5L	23	54783453	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	286608	54783453	100487107	21359	31676											
ITIH5L	347365	broad.mit.edu	37	chrX	54783606	54783606	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctggagctgttgagtaggctCattgttggaactcctggcct	13	9	1	1	rs374080821		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783606C>T	ENST00000218436.6	-	8	2930	c.2901G>A	c.(2899-2901)atG>atA	p.M967I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	967	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGAGTAGGCTCATTGTTGGAA	0.587																																						ENST00000218436.6																			0											c.(2899-2901)atG>atA		inter-alpha-trypsin inhibitor heavy chain family, member 6		C	ILE/MET	0,3835		0,0,1632,571	108	95	100		2901	1.1	0	X		100	1,6727		0,1,2427,1872	no	missense	ITIH5L	NM_198510.2	10	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	967/1314	54783606	1,10562	2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783606C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2901G>A	X.37:g.54783606C>T	ENSP00000218436:p.Met967Ile						p.M967I	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2930	-			967			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2901G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	0.268	-0.994661	0.02145	0.0	1.49E-4	ENSG00000102313	ENST00000218436	T	0.02140	4.43	3.37	1.13	0.20643	.	3.939420	0.01482	U	0.016729	T	0.02119	0.0066	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45469	-0.9259	10	0.28530	T	0.3	.	5.3181	0.15866	0.0:0.6231:0.0:0.3769	.	967	Q6UXX5	ITH5L_HUMAN	I	967	ENSP00000218436:M967I	ENSP00000218436:M967I	M	-	3	0	ITIH5L	54800331	0.387000	0.25188	0.003000	0.11579	0.028000	0.11728	0.122000	0.15687	0.004000	0.14682	0.594000	0.82650	ATG		0.587	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		52	169	0	0	0	1	0	52	169					T	54783606	C	T	54783606	3	4	79	1	0	0	0	0	1	0	0	0	7938	826	29	2	1064	2	ITIH5L	23	54783606	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	153	54783606	100486954	21360	31677											
ITIH5L	347365	broad.mit.edu	37	chrX	54785257	54785257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggataccctgtggcctagcGcctgacggacattggagagg	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54785257G>A	ENST00000218436.6	-	8	1279	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	417	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GTGGCCTAGCGCCTGACGGAC	0.612																																						ENST00000218436.6																			0											c.(1249-1251)gCg>gTg		inter-alpha-trypsin inhibitor heavy chain family, member 6							74	56	62					X																	54785257		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785257G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1250C>T	X.37:g.54785257G>A	ENSP00000218436:p.Ala417Val						p.A417V	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	1279	-			417			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1250C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823094	0.50739	.	.	ENSG00000102313	ENST00000218436	T	0.15718	2.4	3.78	3.78	0.43462	von Willebrand factor, type A (3);	0.158431	0.41001	U	0.000970	T	0.31136	0.0787	M	0.71206	2.165	0.34382	D	0.693269	P	0.47762	0.9	P	0.51582	0.674	T	0.52902	-0.8513	10	0.59425	D	0.04	.	13.8649	0.63583	0.0:0.0:1.0:0.0	.	417	Q6UXX5	ITH5L_HUMAN	V	417	ENSP00000218436:A417V	ENSP00000218436:A417V	A	-	2	0	ITIH5L	54801982	1.000000	0.71417	0.074000	0.20217	0.004000	0.04260	4.112000	0.57845	1.465000	0.48006	0.597000	0.82753	GCG		0.612	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		51	159	0	0	0	1	0	51	159					A	54785257	G	A	54785257	3	1	79	1	0	0	0	0	1	0	0	0	7938	1087	38	1	2715	1	ITIH5L	23	54785257	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1651	54785257	100485303	21361	31678											
ITIH5L	347365	broad.mit.edu	37	chrX	54814949	54814949	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctccatgaccacatcGtactgaaccaggaagtcagc	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54814949G>A	ENST00000218436.6	-	5	779	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	250					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGACCACATCGTACTGAACCA	0.572																																						ENST00000218436.6																			0											c.(748-750)taC>taT		inter-alpha-trypsin inhibitor heavy chain family, member 6							168	100	123					X																	54814949		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54814949G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"inter-alpha (globulin) inhibitor H5-like"	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.750C>T	X.37:g.54814949G>A						ITIH6_ENST00000498398.1_5'UTR	p.Y250Y	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			5	779	-			250					A6NN03	Silent	SNP	ENST00000218436.6	37	c.750C>T	CCDS14361.1																																																																																				0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		41	202	0	0	0	1	0	41	202					A	54814949	G	A	54814949	2	1	79	1	0	0	0	0	0	0	0	1	7938	1140	40	1		1	ITIH5L	23	54814949	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	29692	54814949	100455611	21362	31679											
MAGED2	10916	broad.mit.edu	37	chrX	54837363	54837363	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatggcctcaatggcccgcaGggcttcaaggggtcccatag	13	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54837363G>T	ENST00000375068.1	+	4	880	c.647G>T	c.(646-648)aGg>aTg	p.R216M	MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000347546.4_Missense_Mutation_p.R198M|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000497484.1_3'UTR			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	216	Arg-rich.					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						ATGGCCCGCAGGGCTTCAAGG	0.602																																						ENST00000375068.1																			0				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						c.(646-648)aGg>aTg		melanoma antigen family D, 2							28	27	27					X																	54837363		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54837363G>T	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.647G>T	X.37:g.54837363G>T	ENSP00000364209:p.Arg216Met					MAGED2_ENST00000375053.2_Missense_Mutation_p.R216M|MAGED2_ENST00000396224.1_Missense_Mutation_p.R216M|MAGED2_ENST00000218439.4_Missense_Mutation_p.R216M|MAGED2_ENST00000347546.3_Missense_Mutation_p.R160M|MAGED2_ENST00000343474.6_Missense_Mutation_p.R198M|MAGED2_ENST00000375062.4_Intron|MAGED2_ENST00000375060.1_Intron|MAGED2_ENST00000497484.1_3'UTR|MAGED2_ENST00000375058.1_Missense_Mutation_p.R216M	p.R216M			Q9UNF1	MAGD2_HUMAN			4	880	+			216			Arg-rich.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.647G>T	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100578	0.56183	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000218439;ENST00000375058;ENST00000396224	T;T;T;T;T;T;T	0.73152	3.76;3.76;3.69;-0.72;3.76;3.76;3.76	3.85	3.85	0.44370	.	0.000000	0.48286	D	0.000184	T	0.64735	0.2625	N	0.08118	0	0.27613	N	0.948598	D;D	0.64830	0.994;0.99	D;D	0.77004	0.989;0.974	T	0.55761	-0.8090	10	0.30854	T	0.27	.	8.6097	0.33795	0.0:0.2301:0.7699:0.0	.	198;216	Q9UNF1-2;Q9UNF1	.;MAGD2_HUMAN	M	216;216;160;198;216;216;216	ENSP00000364209:R216M;ENSP00000364193:R216M;ENSP00000336962:R160M;ENSP00000340290:R198M;ENSP00000218439:R216M;ENSP00000364198:R216M;ENSP00000379526:R216M	ENSP00000218439:R216M	R	+	2	0	MAGED2	54854088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.242000	0.58714	2.175000	0.68902	0.600000	0.82982	AGG		0.602	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		15	81	1	0	3.27435e-08	1	3.41456e-08	15	81					T	54837363	G	T	54837363	3	4	79	1	0	0	0	0	1	0	0	0	9225	1000	35	3	657	3	MAGED2	23	54837363	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22414	54837363	100433197	21363	31680											
TRO	7216	broad.mit.edu	37	chrX	54954201	54954201	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagcaagatgaaagtcctcaAgtttgcatgcagggtaagag	12	6	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54954201A>C	ENST00000173898.7	+	11	1977	c.1865A>C	c.(1864-1866)aAg>aCg	p.K622T	TRO_ENST00000420798.2_Missense_Mutation_p.K153T|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000399736.1_Missense_Mutation_p.K225T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	622	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						AAAGTCCTCAAGTTTGCATGC	0.537																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1864-1866)aAg>aCg		trophinin							57	54	55					X																	54954201		2200	4299	6499	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54954201A>C	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.1865A>C	X.37:g.54954201A>C	ENSP00000173898:p.Lys622Thr					TRO_ENST00000399736.1_Missense_Mutation_p.K225T|TRO_ENST00000375041.2_Missense_Mutation_p.K225T|TRO_ENST00000319167.8_Missense_Mutation_p.K622T|TRO_ENST00000375022.4_Missense_Mutation_p.K622T|TRO_ENST00000420798.2_Missense_Mutation_p.K153T	p.K622T	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			11	1977	+			622			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1865A>C	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706036	0.48412	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06849	3.94;3.7;3.7;3.55;3.25;3.59	3.1	1.94	0.25998	.	.	.	.	.	T	0.18383	0.0441	L	0.49513	1.565	0.30932	N	0.726759	D;P;P;D	0.76494	0.999;0.938;0.573;0.998	D;P;B;D	0.75484	0.958;0.521;0.376;0.986	T	0.08432	-1.0722	9	0.87932	D	0	.	5.5264	0.16960	0.8559:0.0:0.1441:0.0	.	225;225;622;622	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	T	622;622;622;225;225;153;225	ENSP00000173898:K622T;ENSP00000318278:K622T;ENSP00000364162:K622T;ENSP00000382641:K225T;ENSP00000405126:K153T;ENSP00000364181:K225T	ENSP00000173898:K622T	K	+	2	0	TRO	54970926	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	1.126000	0.31344	0.443000	0.26582	0.417000	0.27973	AAG		0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		27	136	0	0	0	1	0	27	136					C	54954201	A	C	54954201	3	2	79	1	0	0	0	0	1	0	0	0	16627	72	3	4	1903	4	TRO	23	54954201	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	116838	54954201	100316359	21364	31681											
TRO	7216	broad.mit.edu	37	chrX	54955207	54955207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctggaattgggatgacatgGatatcgactgcctaacaagg	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54955207G>A	ENST00000173898.7	+	12	2162	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TRO_ENST00000420798.2_Missense_Mutation_p.D215N|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	684					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						ggATGACATGGATATCGACTG	0.537																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2050-2052)Gat>Aat		trophinin							54	58	57					X																	54955207		2106	4238	6344	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955207G>A	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.2050G>A	X.37:g.54955207G>A	ENSP00000173898:p.Asp684Asn					TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.D287N|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.D215N	p.D684N	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2162	+			684					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.2050G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164907	0.38217	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.10192	3.49;2.9;3.2	2.95	2.95	0.34219	.	.	.	.	.	T	0.13457	0.0326	L	0.36672	1.1	0.31987	N	0.60514	D;D	0.65815	0.995;0.995	P;P	0.53185	0.72;0.72	T	0.10965	-1.0607	9	0.87932	D	0	.	5.2406	0.15469	0.1614:0.0:0.8386:0.0	.	287;684	B1AKE9;Q12816	.;TROP_HUMAN	N	684;215;287	ENSP00000173898:D684N;ENSP00000405126:D215N;ENSP00000364181:D287N	ENSP00000173898:D684N	D	+	1	0	TRO	54971932	0.813000	0.29090	0.994000	0.49952	0.847000	0.48162	1.099000	0.31013	1.744000	0.51775	0.544000	0.68410	GAT		0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		37	141	0	0	0	1	0	37	141					A	54955207	G	A	54955207	3	1	79	1	0	0	0	0	1	0	0	0	16627	1174	41	2	2092	2	TRO	23	54955207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1006	54955207	100315353	21365	31682											
TRO	7216	broad.mit.edu	37	chrX	54957437	54957437	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccagtcttggtgcctgtgGcttctcgtatggctagtgag	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54957437G>A	ENST00000173898.7	+	12	4392	c.4280G>A	c.(4279-4281)gGc>gAc	p.G1427D	TRO_ENST00000420798.2_Missense_Mutation_p.G958D|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1427	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						GGTGCCTGTGGCTTCTCGTAT	0.557																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(4279-4281)gGc>gAc		trophinin							27	28	27					X																	54957437		1961	4140	6101	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957437G>A	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.4280G>A	X.37:g.54957437G>A	ENSP00000173898:p.Gly1427Asp					TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.G1030D|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G958D	p.G1427D	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	4392	+			1427			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.4280G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855585	0.51376	.	.	ENSG00000067445	ENST00000173898;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T	0.27104	2.55;1.69;3.06	3.18	2.31	0.28768	.	.	.	.	.	T	0.16471	0.0396	N	0.08118	0	0.26502	N	0.974758	D;D	0.60160	0.987;0.987	P;P	0.47864	0.559;0.559	T	0.08146	-1.0736	9	0.87932	D	0	.	7.5398	0.27731	0.138:0.0:0.862:0.0	.	1030;1427	B1AKE9;Q12816	.;TROP_HUMAN	D	1427;353;958;1030	ENSP00000173898:G1427D;ENSP00000405126:G958D;ENSP00000364181:G1030D	ENSP00000173898:G1427D	G	+	2	0	TRO	54974162	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	3.930000	0.56522	0.744000	0.32741	0.600000	0.82982	GGC		0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		41	136	0	0	0	1	0	41	136					A	54957437	G	A	54957437	3	1	79	1	0	0	0	0	1	0	0	0	16627	1203	42	2	4322	2	TRO	23	54957437	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2230	54957437	100313123	21366	31683											
PFKFB1	5207	broad.mit.edu	37	chrX	54959869	54959869	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggacagtatccagggcttcCtcaggttcccgggtgatgtc	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54959869C>A	ENST00000375006.3	-	14	1453	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	461	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGGGCTTCCTCAGGTTCCC	0.542																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(1381-1383)gaG>gaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							137	105	116					X																	54959869		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54959869C>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1383G>T	X.37:g.54959869C>A	ENSP00000364145:p.Glu461Asp					PFKFB1_ENST00000374992.2_Missense_Mutation_p.E261D|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E396D	p.E461D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			14	1453	-			461			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.1383G>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295089	0.23564	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.28	0.356	0.16074	.	0.161173	0.52532	D	0.000061	T	0.40171	0.1106	L	0.39020	1.185	0.36113	D	0.844969	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.25222	-1.0138	9	0.21540	T	0.41	-4.2766	8.1101	0.30909	0.0:0.5175:0.0:0.4825	.	396;261;461	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	D	461;396;261	.	ENSP00000364131:E261D	E	-	3	2	PFKFB1	54976594	0.335000	0.24748	0.988000	0.46212	0.811000	0.45836	-0.438000	0.06905	-0.027000	0.13873	0.287000	0.19450	GAG		0.542	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			58	174	1	0	1.19403e-26	1	1.3775e-26	58	174					A	54959869	C	A	54959869	3	1	79	1	0	0	0	0	1	0	0	0	11802	680	24	3	36	3	PFKFB1	23	54959869	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2432	54959869	100310691	21367	31684											
PFKFB1	5207	broad.mit.edu	37	chrX	54978518	54978518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgtagcgtgtgcccacGtcgaagatcttgatgtagga	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54978518G>A	ENST00000375006.3	-	8	736	c.666C>T	c.(664-666)gaC>gaT	p.D222D	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.D157D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	222	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTGCCCACGTCGAAGATCT	0.567																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(664-666)gaC>gaT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							137	90	106					X																	54978518		2203	4300	6503	SO:0001819	synonymous_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54978518G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.666C>T	X.37:g.54978518G>A						PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.D157D	p.D222D	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			8	736	-			222			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	c.666C>T	CCDS14364.1																																																																																				0.567	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			39	106	0	0	0	1	0	39	106					A	54978518	G	A	54978518	2	1	79	1	0	0	0	0	0	0	0	1	11802	1136	40	1		1	PFKFB1	23	54978518	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	18649	54978518	100292042	21368	31685											
ALAS2	212	broad.mit.edu	37	chrX	55035746	55035746	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acacatcctggaggggcagcCccaccgcagtccaagccagc	11	17	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55035746C>T	ENST00000330807.5	-	11	1768	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	544					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGGCAGCCCCACCGCAGT	0.547																																						ENST00000330807.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1630-1632)gGg>gAg		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						25	21	22					X																	55035746		2200	4297	6497	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55035746C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1631G>A	X.37:g.55035746C>T	ENSP00000332369:p.Gly544Glu					ALAS2_ENST00000335854.4_Missense_Mutation_p.G507E|ALAS2_ENST00000396198.3_Missense_Mutation_p.G531E|ALAS2_ENST00000498636.1_5'UTR	p.G544E	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			11	1768	-			544					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1631G>A	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	9.778	1.174616	0.21704	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.97328	-4.34;-4.15;-4.12	5.39	4.52	0.55395	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.047841	0.85682	D	0.000000	D	0.96147	0.8744	M	0.77820	2.39	0.58432	D	0.999999	B;B;B	0.31859	0.343;0.343;0.343	B;B;B	0.37833	0.167;0.259;0.216	D	0.94339	0.7569	10	0.48119	T	0.1	-16.5056	8.0581	0.30617	0.1612:0.753:0.0:0.0858	.	507;531;544	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	E	544;531;507	ENSP00000332369:G544E;ENSP00000379501:G531E;ENSP00000337131:G507E	ENSP00000332369:G544E	G	-	2	0	ALAS2	55052471	1.000000	0.71417	0.913000	0.36048	0.012000	0.07955	4.961000	0.63681	1.161000	0.42604	-0.237000	0.12165	GGG		0.547	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		15	50	0	0	0	1	0	15	50					T	55035746	C	T	55035746	3	4	79	1	0	0	0	0	1	0	0	0	485	623	22	2	136	2	ALAS2	23	55035746	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57228	55035746	100234814	21369	31686											
RRAGB	10325	broad.mit.edu	37	chrX	55748704	55748704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgccagagacacacgtcGccttggcgcaacaagtaaga	10	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55748704G>A	ENST00000262850.7	+	3	655	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RRAGB_ENST00000374941.4_Missense_Mutation_p.R71H	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GACACACGTCGCCTTGGCGCA	0.398																																						ENST00000374941.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						c.(211-213)cGc>cAc		Ras-related GTP binding B							109	92	98					X																	55748704		2203	4300	6503	SO:0001583	missense	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55748704G>A	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.212G>A	X.37:g.55748704G>A	ENSP00000262850:p.Arg71His					RRAGB_ENST00000262850.7_Missense_Mutation_p.R71H	p.R71H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN			3	801	+			71						Missense_Mutation	SNP	ENST00000262850.7	37	c.212G>A	CCDS14372.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.542817	0.65198	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.68025	-0.3;-0.2	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.80502	0.4635	M	0.86502	2.82	0.80722	D	1	D;P	0.89917	1.0;0.593	P;B	0.58172	0.834;0.117	D	0.83654	0.0157	10	0.51188	T	0.08	-5.9192	14.5113	0.67789	0.0:0.0:1.0:0.0	.	71;71	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	H	71;33;71	ENSP00000364077:R71H;ENSP00000410630:R33H	ENSP00000262850:R71H	R	+	2	0	RRAGB	55765429	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	8.725000	0.91468	2.224000	0.72417	0.544000	0.68410	CGC		0.398	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		48	176	0	0	0	1	0	48	176					A	55748704	G	A	55748704	3	1	79	1	0	0	0	0	1	0	0	0	13723	1087	38	1	222	1	RRAGB	23	55748704	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	712958	55748704	99521856	21370	31687											
SPIN3	169981	broad.mit.edu	37	chrX	57021054	57021054	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgcaactctattaggaagGacttcaagtgatgacactct	9	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57021054G>A	ENST00000374919.3	-	2	649	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	109					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATTAGGAAGGACTTCAAGTG	0.378																																						ENST00000374919.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(325-327)gtC>gtT		spindlin family, member 3							132	132	132					X																	57021054		2136	4253	6389	SO:0001819	synonymous_variant	169981				gamete generation			g.chrX:57021054G>A	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.327C>T	X.37:g.57021054G>A							p.V109V	NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN			2	649	-			109					B2RUW3|B7Z8W2|Q8N5D9	Silent	SNP	ENST00000374919.3	37	c.327C>T	CCDS43963.1																																																																																				0.378	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024		171	655	0	0	0	1	0	171	655					A	57021054	G	A	57021054	2	1	79	1	0	0	0	0	0	0	0	1	15107	1161	41	2		2	SPIN3	23	57021054	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1272350	57021054	98249506	21371	31688											
FAAH2	158584	broad.mit.edu	37	chrX	57318998	57318998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgtgaacccaatgatcaatgGaattgtcaagtacaggtgag	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57318998G>A	ENST00000374900.4	+	2	380	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	87						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCAATGGAATTGTCAAG	0.393										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(259-261)gGa>gAa		fatty acid amide hydrolase 2							171	151	158					X																	57318998		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57318998G>A	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.260G>A	X.37:g.57318998G>A	ENSP00000364035:p.Gly87Glu	HNSCC(52;0.14)					p.G87E	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			2	380	+			87					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.260G>A	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.802073	0.31869	.	.	ENSG00000165591	ENST00000374900	T	0.54675	0.56	2.95	1.94	0.25998	Amidase signature domain (2);	0.068514	0.56097	U	0.000026	T	0.38427	0.1040	N	0.14661	0.345	0.24366	N	0.994852	B	0.29571	0.249	B	0.41135	0.348	T	0.37820	-0.9689	10	0.72032	D	0.01	.	6.5532	0.22446	0.0:0.4334:0.5666:0.0	.	87	Q6GMR7	FAAH2_HUMAN	E	87	ENSP00000364035:G87E	ENSP00000364035:G87E	G	+	2	0	FAAH2	57335723	1.000000	0.71417	0.978000	0.43139	0.943000	0.58893	1.589000	0.36644	1.215000	0.43411	0.594000	0.82650	GGA		0.393	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		95	312	0	0	0	1	0	95	312					A	57318998	G	A	57318998	3	1	79	1	0	0	0	0	1	0	0	0	5375	1174	41	2	266	2	FAAH2	23	57318998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297944	57318998	97951562	21372	31689											
ARHGEF9	23229	broad.mit.edu	37	chrX	62898340	62898340	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatcatctgctgcaagaggCgacaggcctcaaagaagtgc	11	11	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:62898340C>T	ENST00000253401.6	-	5	1474	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	225	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCAAGAGGCGACAGGCCTC	0.478																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(673-675)cGc>cAc		Cdc42 guanine nucleotide exchange factor (GEF) 9							87	63	72					X																	62898340		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62898340C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.674G>A	X.37:g.62898340C>T	ENSP00000253401:p.Arg225His					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R123H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_5'UTR|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.R223H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R204H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R172H	p.R225H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			5	1474	-			225			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.674G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930612	0.92389	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.08	5.08	0.68730	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	H	0.94925	3.6	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	0.89143	0.3518	10	0.66056	D	0.02	.	16.0426	0.80695	0.0:1.0:0.0:0.0	.	172;223;225;225	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	H	225;223;172;123;204	ENSP00000253401:R225H;ENSP00000364012:R223H;ENSP00000399994:R172H;ENSP00000364004:R123H;ENSP00000364006:R204H	ENSP00000253401:R225H	R	-	2	0	ARHGEF9	62815065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.201000	0.77847	2.087000	0.62958	0.600000	0.82982	CGC		0.478	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			15	55	0	0	0	1	0	15	55					T	62898340	C	T	62898340	3	4	79	1	0	0	0	0	1	0	0	0	912	768	27	1	900	1	ARHGEF9	23	62898340	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	5579342	62898340	92372220	21373	31690											
FAM123B	139285	broad.mit.edu	37	chrX	63411844	63411844	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggataagacctaacTgggtcaaggagcatgtagcc	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63411844T>C	ENST00000330258.3	-	2	1595	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	AMER1_ENST00000403336.1_Silent_p.P441P|AMER1_ENST00000374869.3_Silent_p.P441P	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	441					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)									AAGACCTAACTGGGTCAAGGA	0.532																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(1321-1323)ccA>ccG		APC membrane recruitment protein 1							162	124	137					X																	63411844		2203	4300	6503	SO:0001819	synonymous_variant	139285							g.chrX:63411844T>C	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.1323A>G	X.37:g.63411844T>C						AMER1_ENST00000403336.1_Silent_p.P441P|AMER1_ENST00000374869.3_Silent_p.P441P	p.P441P	NM_152424.3	NP_689637.3					2	1595	-								A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.1323A>G	CCDS14377.2																																																																																				0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		91	325	0	0	0	1	0	91	325					C	63411844	T	C	63411844	2	2	79	1	0	0	0	0	0	0	0	1	5444	1567	55	4		4	FAM123B	23	63411844	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	513504	63411844	91858716	21374	31691											
FAM123B	139285	broad.mit.edu	37	chrX	63412815	63412815	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggtaactcaggcaaaggcaGggagaagccagttccttcac	13	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63412815G>T	ENST00000330258.3	-	2	624	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	AMER1_ENST00000403336.1_Missense_Mutation_p.L118M|AMER1_ENST00000374869.3_Missense_Mutation_p.L118M	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	118					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)									GGCAAAGGCAGGGAGAAGCCA	0.557																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(352-354)Ctg>Atg		APC membrane recruitment protein 1							93	69	77					X																	63412815		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63412815G>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.352C>A	X.37:g.63412815G>T	ENSP00000329117:p.Leu118Met					AMER1_ENST00000403336.1_Missense_Mutation_p.L118M|AMER1_ENST00000374869.3_Missense_Mutation_p.L118M	p.L118M	NM_152424.3	NP_689637.3					2	624	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.352C>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	7.138	0.581155	0.13686	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19394	2.15;2.15;2.15	4.59	-8.89	0.00785	.	0.929015	0.08991	N	0.864409	T	0.20577	0.0495	L	0.47716	1.5	0.09310	N	1	P	0.43542	0.81	P	0.53006	0.715	T	0.08269	-1.0730	10	0.46703	T	0.11	-0.412	2.6619	0.05029	0.5551:0.0883:0.173:0.1836	.	118	Q5JTC6	F123B_HUMAN	M	118	ENSP00000364003:L118M;ENSP00000329117:L118M;ENSP00000384722:L118M	ENSP00000329117:L118M	L	-	1	2	FAM123B	63329540	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.576000	0.05854	-2.418000	0.00566	-0.191000	0.12829	CTG		0.557	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		65	246	1	0	1.92745e-42	1	2.3466e-42	65	246					T	63412815	G	T	63412815	3	4	79	1	0	0	0	0	1	0	0	0	5444	991	35	3	3059	3	FAM123B	23	63412815	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	971	63412815	91857745	21375	31692											
FAM123B	139285	broad.mit.edu	37	chrX	63413144	63413144	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcccttggcctgagcaGcttcatccttttgggtctcc	9	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63413144G>A	ENST00000330258.3	-	2	295	c.23C>T	c.(22-24)gCt>gTt	p.A8V	AMER1_ENST00000403336.1_Missense_Mutation_p.A8V|AMER1_ENST00000374869.3_Missense_Mutation_p.A8V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	8					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)									GGCCTGAGCAGCTTCATCCTT	0.532																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(22-24)gCt>gTt		APC membrane recruitment protein 1							143	117	125					X																	63413144		2203	4300	6503	SO:0001583	missense	139285							g.chrX:63413144G>A	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.23C>T	X.37:g.63413144G>A	ENSP00000329117:p.Ala8Val					AMER1_ENST00000403336.1_Missense_Mutation_p.A8V|AMER1_ENST00000374869.3_Missense_Mutation_p.A8V	p.A8V	NM_152424.3	NP_689637.3					2	295	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.23C>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842625	0.16963	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.46063	0.88;0.88;0.88	4.59	1.91	0.25777	.	0.754197	0.12235	N	0.487096	T	0.29423	0.0733	L	0.27053	0.805	0.27440	N	0.953734	B	0.14805	0.011	B	0.15052	0.012	T	0.23190	-1.0195	10	0.56958	D	0.05	0.0174	8.8232	0.35039	0.2652:0.0:0.7348:0.0	.	8	Q5JTC6	F123B_HUMAN	V	8	ENSP00000364003:A8V;ENSP00000329117:A8V;ENSP00000384722:A8V	ENSP00000329117:A8V	A	-	2	0	FAM123B	63329869	0.555000	0.26530	0.858000	0.33744	0.061000	0.15899	3.114000	0.50383	0.283000	0.22279	-0.191000	0.12829	GCT		0.532	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		21	442	0	0	0	1	0	21	442					A	63413144	G	A	63413144	3	1	79	1	0	0	0	0	1	0	0	0	5444	971	34	2	3388	2	FAM123B	23	63413144	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	329	63413144	91857416	21376	31693											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722292	64722293	+	Frame_Shift_Ins	INS	-	-	G													ttacatggctgaagtagaccINSggggggtgtatgcccggaat					rs539936063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722292_64722293insG	ENST00000338957.4	+	5	1781_1782	c.1714_1715insG	c.(1714-1716)cggfs	p.R572fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.R561fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	572							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						TGAAGTAGACCGGGGGGTGTAT	0.47																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1714-1716)gggfs		zinc finger CCCH-type containing 12B																																				SO:0001589	frameshift_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722292_64722293insG	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.1720dupG	X.37:g.64722298_64722298dupG	ENSP00000340839:p.Arg572fs					ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.G561fs	p.G572fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	1781_1782	+			561					B2RTQ3|E9PAJ6|Q5H9C0	Frame_Shift_Ins	INS	ENST00000338957.4	37	c.1714_1715insG	CCDS48131.2																																																																																				0.47	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		25	117						25	117	---	---	---	---	G	64722293	-	G	64722292	7	5	79	1	0	1	1	0	0	0	0	0	17615	643	23	0	1732	0	ZC3H12B	23	64722292	Frame_Shift_Ins	INS	-	TCGA-IB-7651-01A-11D-2154-08	1309148	64722292	90548268	21377	31694											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722815	64722815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggctaccactcctatcCcttgagtaacagcctcatgc	6	15	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722815C>T	ENST00000338957.4	+	5	2304	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	746							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						CACTCCTATCCCTTGAGTAAC	0.557																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2236-2238)cCc>cTc		zinc finger CCCH-type containing 12B							68	67	67					X																	64722815		2184	4293	6477	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722815C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2237C>T	X.37:g.64722815C>T	ENSP00000340839:p.Pro746Leu					ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P735L	p.P746L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	2304	+			735					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.2237C>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344645	0.61073	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.26660	1.72;1.72	5.94	5.06	0.68205	.	0.050747	0.85682	D	0.000000	T	0.37019	0.0988	L	0.54323	1.7	0.53688	D	0.999971	D	0.63880	0.993	P	0.52109	0.69	T	0.18304	-1.0341	10	0.87932	D	0	-22.6475	13.9642	0.64199	0.1526:0.8474:0.0:0.0	.	735	Q5HYM0	ZC12B_HUMAN	L	746;735;682	ENSP00000340839:P746L;ENSP00000408077:P735L	ENSP00000218172:P682L	P	+	2	0	ZC3H12B	64639540	0.943000	0.32029	1.000000	0.80357	0.996000	0.88848	3.482000	0.53186	1.200000	0.43188	0.506000	0.49869	CCC		0.557	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		45	148	0	0	0	1	0	45	148					T	64722815	C	T	64722815	3	4	79	1	0	0	0	0	1	0	0	0	17615	623	22	2	2255	2	ZC3H12B	23	64722815	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	523	64722815	90547745	21378	31695											
VSIG4	11326	broad.mit.edu	37	chrX	65253408	65253408	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtgtagtggctccggTcatccatctccagggtgctc	11	14	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65253408T>G	ENST00000374737.4	-	2	428	c.320A>C	c.(319-321)gAc>gCc	p.D107A	VSIG4_ENST00000455586.2_Missense_Mutation_p.D107A|VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	107	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGGCTCCGGTCATCCATCTC	0.542																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(319-321)gAc>gCc		V-set and immunoglobulin domain containing 4							137	118	125					X																	65253408		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253408T>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.320A>C	X.37:g.65253408T>G	ENSP00000363869:p.Asp107Ala					VSIG4_ENST00000374737.4_Missense_Mutation_p.D107A|VSIG4_ENST00000412866.2_Missense_Mutation_p.D107A	p.D107A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			2	446	-			107			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.320A>C	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.65|15.65	2.897185|2.897185	0.52121|0.52121	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866|ENST00000427538	D;D;D|.	0.88046|.	-2.33;-2.33;-2.33|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|.	0.73257|.	0.3564|.	M|M	0.81802|0.81802	2.56|2.56	0.39632|0.39632	D|D	0.970198|0.970198	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|.	0.76179|.	-0.3054|.	10|.	0.72032|.	D|.	0.01|.	-21.8408|-21.8408	9.9597|9.9597	0.41688|0.41688	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	107;107;97;107;107|.	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279|.	.;.;.;.;VSIG4_HUMAN|.	A|C	107|33	ENSP00000363869:D107A;ENSP00000411581:D107A;ENSP00000394143:D107A|.	ENSP00000363869:D107A|.	D|X	-|-	2|3	0|0	VSIG4|VSIG4	65170133|65170133	0.997000|0.997000	0.39634|0.39634	0.864000|0.864000	0.33941|0.33941	0.435000|0.435000	0.31806|0.31806	3.569000|3.569000	0.53827|0.53827	1.614000|1.614000	0.50241|0.50241	0.481000|0.481000	0.45027|0.45027	GAC|TGA		0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		14	730	0	0	0	1	0	14	730					G	65253408	T	G	65253408	3	3	79	1	0	0	0	0	1	0	0	0	17279	1667	58	4	911	4	VSIG4	23	65253408	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	530593	65253408	90017152	21379	31696											
HEPH	9843	broad.mit.edu	37	chrX	65420449	65420449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggtgacacagtggcctgGcacctgctcggcctgggcac	15	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420449G>A	ENST00000343002.2	+	11	2596	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	HEPH_ENST00000519389.1_Nonsense_Mutation_p.W698*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W647*|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Nonsense_Mutation_p.W647*|HEPH_ENST00000336279.5_Nonsense_Mutation_p.W377*			Q9BQS7	HEPH_HUMAN	hephaestin	644	Plastocyanin-like 4.				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						CAGTGGCCTGGCACCTGCTCG	0.547																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2092-2094)tgG>tgA		hephaestin							172	110	131					X																	65420449		2203	4300	6503	SO:0001587	stop_gained	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65420449G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1932G>A	X.37:g.65420449G>A	ENSP00000343939:p.Trp644*					HEPH_ENST00000441993.2_Nonsense_Mutation_p.W647*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.W644*|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Nonsense_Mutation_p.W377*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.W647*	p.W698*			Q9BQS7	HEPH_HUMAN			12	2273	+			644			Plastocyanin-like 4.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Nonsense_Mutation	SNP	ENST00000343002.2	37	c.2094G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.637148	0.98403	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	.	.	.	4.84	3.96	0.45880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.339	0.55083	0.0:0.0:0.8297:0.1703	.	.	.	.	X	698;647;377;647;644;601	.	ENSP00000337418:W377X	W	+	3	0	HEPH	65337174	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.341000	0.97041	0.816000	0.34421	0.600000	0.82982	TGG		0.547	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		4	105	0	0	0	1	0	4	105					A	65420449	G	A	65420449	4	1	79	1	0	0	0	0	0	1	0	0	7084	1212	42	2	2140	2	HEPH	23	65420449	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	167041	65420449	89850111	21380	31697											
HEPH	9843	broad.mit.edu	37	chrX	65420511	65420511	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgttccagggcaacactgTgcagcttcagggcatgagga	13	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420511T>C	ENST00000343002.2	+	11	2658	c.1994T>C	c.(1993-1995)gTg>gCg	p.V665A	HEPH_ENST00000519389.1_Missense_Mutation_p.V719A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000336279.5_Missense_Mutation_p.V398A			Q9BQS7	HEPH_HUMAN	hephaestin	665	Plastocyanin-like 4.				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						GGCAACACTGTGCAGCTTCAG	0.567																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2155-2157)gTg>gCg		hephaestin							169	103	126					X																	65420511		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65420511T>C	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.1994T>C	X.37:g.65420511T>C	ENSP00000343939:p.Val665Ala					HEPH_ENST00000441993.2_Missense_Mutation_p.V668A|HEPH_ENST00000343002.2_Missense_Mutation_p.V665A|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000336279.5_Missense_Mutation_p.V398A|HEPH_ENST00000374727.3_Missense_Mutation_p.V668A	p.V719A			Q9BQS7	HEPH_HUMAN			12	2335	+			665					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2156T>C		.	.	.	.	.	.	.	.	.	.	T	13.38	2.221411	0.39300	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	4.73	4.73	0.59995	Cupredoxin (2);	0.309310	0.31601	N	0.007363	D	0.98902	0.9628	L	0.52573	1.65	0.09310	N	0.999994	B;B	0.30179	0.14;0.271	B;B	0.26614	0.071;0.066	D	0.98994	1.0809	10	0.62326	D	0.03	.	12.2515	0.54601	0.0:0.0:0.0:1.0	.	719;665	E9PHN8;Q9BQS7	.;HEPH_HUMAN	A	719;668;398;668;665;622	ENSP00000430620:V719A;ENSP00000363859:V668A;ENSP00000337418:V398A;ENSP00000411687:V668A;ENSP00000343939:V665A;ENSP00000398078:V622A	ENSP00000337418:V398A	V	+	2	0	HEPH	65337236	0.968000	0.33430	0.978000	0.43139	0.961000	0.63080	7.559000	0.82265	1.569000	0.49696	0.486000	0.48141	GTG		0.567	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		36	142	0	0	0	1	0	36	142					C	65420511	T	C	65420511	3	2	79	1	0	0	0	0	1	0	0	0	7084	1696	59	4	2202	4	HEPH	23	65420511	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	62	65420511	89850049	21381	31698											
HEPH	9843	broad.mit.edu	37	chrX	65486305	65486305	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgccccccagagacattgaaGaaggcaatgtgaagatgctg	12	9	0	5			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65486305G>A	ENST00000343002.2	+	20	3932	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K	HEPH_ENST00000519389.1_Missense_Mutation_p.E1144K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000336279.5_Missense_Mutation_p.E823K			Q9BQS7	HEPH_HUMAN	hephaestin	1090					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						AGACATTGAAGAAGGCAATGT	0.463																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3430-3432)Gaa>Aaa		hephaestin							194	138	157					X																	65486305		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486305G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3268G>A	X.37:g.65486305G>A	ENSP00000343939:p.Glu1090Lys					HEPH_ENST00000441993.2_Missense_Mutation_p.E1092K|HEPH_ENST00000343002.2_Missense_Mutation_p.E1090K|HEPH_ENST00000419594.1_Missense_Mutation_p.E901K|HEPH_ENST00000336279.5_Missense_Mutation_p.E823K|HEPH_ENST00000374727.3_Missense_Mutation_p.E1093K	p.E1144K			Q9BQS7	HEPH_HUMAN			21	3609	+			1090					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3430G>A		.	.	.	.	.	.	.	.	.	.	G	8.948	0.967504	0.18659	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99277	-5.67;-5.66;-5.66;-5.64;-5.66;-5.66	5.01	5.01	0.66863	.	0.714431	0.12167	N	0.493373	D	0.96682	0.8917	L	0.27053	0.805	0.09310	N	1	B;P;B	0.48998	0.01;0.918;0.094	B;B;B	0.40009	0.004;0.316;0.016	D	0.91369	0.5118	10	0.06099	T	0.92	.	13.9687	0.64225	0.0:0.0:1.0:0.0	.	1144;901;1090	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	K	1144;1093;823;1092;901;1090	ENSP00000430620:E1144K;ENSP00000363859:E1093K;ENSP00000337418:E823K;ENSP00000411687:E1092K;ENSP00000413211:E901K;ENSP00000343939:E1090K	ENSP00000337418:E823K	E	+	1	0	HEPH	65403030	0.923000	0.31300	0.023000	0.16930	0.011000	0.07611	1.912000	0.39946	2.315000	0.78130	0.600000	0.82982	GAA		0.463	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		49	178	0	0	0	1	0	49	178					A	65486305	G	A	65486305	3	1	79	1	0	0	0	0	1	0	0	0	7084	943	33	2	3512	2	HEPH	23	65486305	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65794	65486305	89784255	21382	31699											
AR	367	broad.mit.edu	37	chrX	66937403	66937403	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtttgccatgggctggCgatccttcaccaatgtcaac	11	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:66937403C>T	ENST00000374690.3	+	5	2781	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	AR_ENST00000396043.2_Nonsense_Mutation_p.R221*|AR_ENST00000396044.3_Intron	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	752	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CATGGGCTGGCGATCCTTCAC	0.532									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM920998	AR	M		c.(2257-2259)Cga>Tga		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						148	102	117					X																	66937403		2203	4300	6503	SO:0001587	stop_gained	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66937403C>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2257C>T	X.37:g.66937403C>T	ENSP00000363822:p.Arg753*					AR_ENST00000396043.2_Nonsense_Mutation_p.R221*|AR_ENST00000396044.3_Intron	p.R753*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			5	2781	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	752			Interaction with MYST2.|Ligand-binding.		A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	ENST00000374690.3	37	c.2257C>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	35	5.473941	0.96291	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	.	.	.	4.99	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6126	0.45432	0.6588:0.3412:0.0:0.0	.	.	.	.	X	563;753;221	.	ENSP00000363822:R753X	R	+	1	2	AR	66854128	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.969000	0.49232	0.464000	0.27142	0.597000	0.82753	CGA		0.532	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		50	136	0	0	0	1	0	50	136					T	66937403	C	T	66937403	4	4	79	1	0	0	0	0	0	1	0	0	836	760	27	1	2299	1	AR	23	66937403	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1451098	66937403	88333157	21383	31700											
OPHN1	4983	broad.mit.edu	37	chrX	67283811	67283811	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gcctttggggtgatcttggtCcctccatcctgcagcctaga	11	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67283811C>A	ENST00000355520.5	-	21	2684	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	681	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGATCTTGGTCCCTCCATCCT	0.612																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(2041-2043)ggG>ggT		oligophrenin 1							79	60	66					X																	67283811		2203	4300	6503	SO:0001819	synonymous_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283811C>A	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2043G>T	X.37:g.67283811C>A						OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	p.G681G	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			21	2684	-			681			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	c.2043G>T	CCDS14388.1																																																																																				0.612	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		39	177	1	0	1.49673e-21	1	1.68722e-21	39	177					A	67283811	C	A	67283811	2	1	79	1	0	0	0	0	0	0	0	1	10917	842	30	3		3	OPHN1	23	67283811	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	346408	67283811	87986749	21384	31701											
STARD8	9754	broad.mit.edu	37	chrX	67937991	67937991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgggccatgtacccagAcctggggcctggagatgagg	16	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67937991A>G	ENST00000252336.6	+	5	1367	c.995A>G	c.(994-996)gAc>gGc	p.D332G	STARD8_ENST00000374597.3_Missense_Mutation_p.D332G|STARD8_ENST00000374599.3_Missense_Mutation_p.D412G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	332					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						ATGTACCCAGACCTGGGGCCT	0.577																																						ENST00000252336.6																			0				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						c.(994-996)gAc>gGc		StAR-related lipid transfer (START) domain containing 8							50	45	47					X																	67937991		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937991A>G	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.995A>G	X.37:g.67937991A>G	ENSP00000252336:p.Asp332Gly					STARD8_ENST00000374599.3_Missense_Mutation_p.D412G|STARD8_ENST00000374597.3_Missense_Mutation_p.D332G	p.D332G	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1367	+			332					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.995A>G	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.646943	0.29246	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10477	2.87;2.89;2.87	4.4	4.4	0.53042	.	0.374529	0.28026	N	0.016882	T	0.13543	0.0328	L	0.56769	1.78	0.31714	N	0.639101	B;B	0.33238	0.403;0.281	B;B	0.36289	0.221;0.11	T	0.05305	-1.0893	10	0.44086	T	0.13	.	10.6264	0.45510	1.0:0.0:0.0:0.0	.	412;332	Q92502-2;Q92502	.;STAR8_HUMAN	G	332;412;332	ENSP00000252336:D332G;ENSP00000363727:D412G;ENSP00000363725:D332G	ENSP00000252336:D332G	D	+	2	0	STARD8	67854716	0.995000	0.38212	0.886000	0.34754	0.744000	0.42396	3.846000	0.55888	1.629000	0.50426	0.486000	0.48141	GAC		0.577	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		45	125	0	0	0	1	0	45	125					G	67937991	A	G	67937991	3	3	79	1	0	0	0	0	1	0	0	0	15315	275	10	4	1257	4	STARD8	23	67937991	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	654180	67937991	87332569	21385	31702											
STARD8	9754	broad.mit.edu	37	chrX	67938081	67938081	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgccaagctgaggctctcaGccagatggaggttccggccc	13	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938081G>C	ENST00000252336.6	+	5	1457	c.1085G>C	c.(1084-1086)aGc>aCc	p.S362T	STARD8_ENST00000374597.3_Missense_Mutation_p.S362T|STARD8_ENST00000374599.3_Missense_Mutation_p.S442T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	362					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						GAGGCTCTCAGCCAGATGGAG	0.602																																						ENST00000252336.6																			0				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						c.(1084-1086)aGc>aCc		StAR-related lipid transfer (START) domain containing 8							47	44	45					X																	67938081		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938081G>C	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.1085G>C	X.37:g.67938081G>C	ENSP00000252336:p.Ser362Thr					STARD8_ENST00000374599.3_Missense_Mutation_p.S442T|STARD8_ENST00000374597.3_Missense_Mutation_p.S362T	p.S362T	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1457	+			362					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1085G>C	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.150056	0.00328	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.07216	3.21;3.21;3.21	3.34	-0.62	0.11567	.	1.318330	0.05395	N	0.539601	T	0.02767	0.0083	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43278	-0.9401	10	0.14656	T	0.56	.	3.6177	0.08083	0.1562:0.2409:0.4911:0.1118	.	442;362	Q92502-2;Q92502	.;STAR8_HUMAN	T	362;442;362	ENSP00000252336:S362T;ENSP00000363727:S442T;ENSP00000363725:S362T	ENSP00000252336:S362T	S	+	2	0	STARD8	67854806	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.407000	0.07178	-0.286000	0.09076	-1.045000	0.02358	AGC		0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		12	159	0	0	0	1	0	12	159					C	67938081	G	C	67938081	3	2	79	1	0	0	0	0	1	0	0	0	15315	971	34	5	1347	5	STARD8	23	67938081	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	90	67938081	87332479	21386	31703											
STARD8	9754	broad.mit.edu	37	chrX	67938201	67938201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accagtggcacaggaagaggCtgaggccccggccccagccc	14	16	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938201C>A	ENST00000252336.6	+	5	1577	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	STARD8_ENST00000374597.3_Missense_Mutation_p.A402D|STARD8_ENST00000374599.3_Missense_Mutation_p.A482D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	402					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						CAGGAAGAGGCTGAggccccg	0.687																																						ENST00000252336.6																			0				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						c.(1204-1206)gCt>gAt		StAR-related lipid transfer (START) domain containing 8							10	11	10					X																	67938201		2183	4258	6441	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67938201C>A	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.1205C>A	X.37:g.67938201C>A	ENSP00000252336:p.Ala402Asp					STARD8_ENST00000374599.3_Missense_Mutation_p.A482D|STARD8_ENST00000374597.3_Missense_Mutation_p.A402D	p.A402D	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1577	+			402					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.1205C>A	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	C	7.956	0.745833	0.15710	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10192	2.9;2.91;2.9	4.05	4.05	0.47172	.	0.746254	0.11133	N	0.596109	T	0.17916	0.0430	L	0.36672	1.1	0.09310	N	1	D;D	0.69078	0.997;0.995	P;P	0.60949	0.881;0.763	T	0.11251	-1.0595	10	0.13853	T	0.58	.	11.3699	0.49694	0.0:1.0:0.0:0.0	.	482;402	Q92502-2;Q92502	.;STAR8_HUMAN	D	402;482;402	ENSP00000252336:A402D;ENSP00000363727:A482D;ENSP00000363725:A402D	ENSP00000252336:A402D	A	+	2	0	STARD8	67854926	0.231000	0.23751	0.019000	0.16419	0.024000	0.10985	0.871000	0.28023	1.959000	0.56917	0.600000	0.82982	GCT		0.687	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		16	105	1	0	2.62699e-14	1	2.8508e-14	16	105					A	67938201	C	A	67938201	3	1	79	1	0	0	0	0	1	0	0	0	15315	797	28	3	1467	3	STARD8	23	67938201	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	120	67938201	87332359	21387	31704											
EFNB1	1947	broad.mit.edu	37	chrX	68060137	68060137	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaagtgggggcagcagCggggaccctgatggcttctt	18	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68060137C>T	ENST00000204961.4	+	5	1461	c.681C>T	c.(679-681)agC>agT	p.S227S		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	227					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						GGGGCAGCAGCGGGGACCCTG	0.597																																						ENST00000204961.4																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						c.(679-681)agC>agT		ephrin-B1							52	54	53					X																	68060137		2203	4300	6503	SO:0001819	synonymous_variant	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060137C>T	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.681C>T	X.37:g.68060137C>T							p.S227S	NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN			5	1461	+			227					D3DVU0	Silent	SNP	ENST00000204961.4	37	c.681C>T	CCDS14391.1																																																																																				0.597	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1	NM_004429		41	152	0	0	0	1	0	41	152					T	68060137	C	T	68060137	2	4	79	1	0	0	0	0	0	0	0	1	4971	767	27	1		1	EFNB1	23	68060137	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121936	68060137	87210423	21388	31705											
PJA1	64219	broad.mit.edu	37	chrX	68382464	68382464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcttgccttcagaagacgaCtgtgaggccacactactttg	10	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382464C>A	ENST00000361478.1	-	2	995	c.618G>T	c.(616-618)caG>caT	p.Q206H	PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H	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	206					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						CAGAAGACGACTGTGAGGCCA	0.542																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(616-618)caG>caT		praja ring finger 1, E3 ubiquitin protein ligase							53	37	43					X																	68382464		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382464C>A	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.618G>T	X.37:g.68382464C>A	ENSP00000355014:p.Gln206His					PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.Q151H|PJA1_ENST00000374583.1_Missense_Mutation_p.Q206H	p.Q206H	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	995	-			206					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.618G>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	c	3.484	-0.105231	0.06967	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14893	2.47;2.47;2.47	2.68	1.76	0.24704	.	1.378800	0.05464	U	0.551802	T	0.17066	0.0410	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32798	-0.9893	10	0.49607	T	0.09	.	3.5115	0.07709	0.0:0.5748:0.2667:0.1585	.	206	Q8NG27	PJA1_HUMAN	H	121;206;206;151	ENSP00000363711:Q206H;ENSP00000355014:Q206H;ENSP00000363699:Q151H	ENSP00000355014:Q206H	Q	-	3	2	PJA1	68299189	0.634000	0.27190	0.007000	0.13788	0.525000	0.34531	0.240000	0.18042	0.553000	0.29044	0.460000	0.39030	CAG		0.542	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		11	160	1	0	1.08611e-07	1	1.12939e-07	11	160					A	68382464	C	A	68382464	3	1	79	1	0	0	0	0	1	0	0	0	12003	564	20	3	1317	3	PJA1	23	68382464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	322327	68382464	86888096	21389	31706											
PJA1	64219	broad.mit.edu	37	chrX	68382676	68382676	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccctctcactggcggtcGctcaacaggcccagccccct	8	19	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382676G>A	ENST00000361478.1	-	2	783	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*	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	136					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						ACTGGCGGTCGCTCAACAGGC	0.522																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(406-408)Cga>Tga		praja ring finger 1, E3 ubiquitin protein ligase							46	45	45					X																	68382676		2203	4300	6503	SO:0001587	stop_gained	64219						zinc ion binding	g.chrX:68382676G>A	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.406C>T	X.37:g.68382676G>A	ENSP00000355014:p.Arg136*					PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Nonsense_Mutation_p.R81*|PJA1_ENST00000374583.1_Nonsense_Mutation_p.R136*	p.R136*	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	783	-			136					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Nonsense_Mutation	SNP	ENST00000361478.1	37	c.406C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514824	0.96402	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	.	.	.	3.12	3.12	0.35913	.	1.339660	0.05905	U	0.630712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.011	0.24863	0.0:0.0:0.7295:0.2705	.	.	.	.	X	81;136;136;81	.	ENSP00000355014:R136X	R	-	1	2	PJA1	68299401	0.003000	0.15002	0.900000	0.35374	0.990000	0.78478	0.313000	0.19415	1.875000	0.54330	0.464000	0.42555	CGA		0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		52	167	0	0	0	1	0	52	167					A	68382676	G	A	68382676	4	1	79	1	0	0	0	0	0	1	0	0	12003	1095	38	1	1529	1	PJA1	23	68382676	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	212	68382676	86887884	21390	31707											
PJA1	64219	broad.mit.edu	37	chrX	68382741	68382741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagtcaatatgtccatagGccattcctcttctgctaccc	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382741G>A	ENST00000361478.1	-	2	718	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V	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	114					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						ATGTCCATAGGCCATTCCTCT	0.507																																						ENST00000361478.1																			0				endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						c.(340-342)gCc>gTc		praja ring finger 1, E3 ubiquitin protein ligase							78	72	74					X																	68382741		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382741G>A	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.341C>T	X.37:g.68382741G>A	ENSP00000355014:p.Ala114Val					PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000374571.4_Missense_Mutation_p.A59V|PJA1_ENST00000374583.1_Missense_Mutation_p.A114V	p.A114V	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN			2	718	-			114					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.341C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399000	0.62177	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.13538	2.58;2.58;2.58	3.25	3.25	0.37280	.	0.160475	0.27821	U	0.017709	T	0.15435	0.0372	L	0.42245	1.32	0.29973	N	0.8184	P	0.51057	0.941	P	0.46172	0.506	T	0.03364	-1.1044	10	0.51188	T	0.08	-7.9662	11.8051	0.52150	0.0:0.0:1.0:0.0	.	114	Q8NG27	PJA1_HUMAN	V	59;114;114;59	ENSP00000363711:A114V;ENSP00000355014:A114V;ENSP00000363699:A59V	ENSP00000355014:A114V	A	-	2	0	PJA1	68299466	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	5.735000	0.68587	1.925000	0.55765	0.534000	0.68092	GCC		0.507	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		47	322	0	0	0	1	0	47	322					A	68382741	G	A	68382741	3	1	79	1	0	0	0	0	1	0	0	0	12003	1203	42	2	1594	2	PJA1	23	68382741	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	65	68382741	86887819	21391	31708											
FAM155B	27112	broad.mit.edu	37	chrX	68725452	68725452	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcccggcgagcccagcgcGcccccaggcacctgcggccc	13	23	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68725452G>A	ENST00000252338.4	+	1	369	c.327G>A	c.(325-327)gcG>gcA	p.A109A	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	109						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						agcccagcgcgcccccAGGCA	0.816																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(325-327)gcG>gcA		family with sequence similarity 155, member B							3	4	4					X																	68725452		1290	2856	4146	SO:0001819	synonymous_variant	27112					integral to membrane		g.chrX:68725452G>A	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.327G>A	X.37:g.68725452G>A							p.A109A	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	369	+			109					B1ALV6|B9EGK1|D3DVU1	Silent	SNP	ENST00000252338.4	37	c.327G>A	CCDS35317.1																																																																																				0.816	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		11	40	0	0	0	1	0	11	40					A	68725452	G	A	68725452	2	1	79	1	0	0	0	0	0	0	0	1	5487	1074	38	1		1	FAM155B	23	68725452	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	342711	68725452	86545108	21392	31709											
EDA	1896	broad.mit.edu	37	chrX	68836217	68836217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgccgcgggagcgagggaGccagggctgcgggtgtggcg	23	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68836217G>A	ENST00000374552.4	+	1	307	c.65G>A	c.(64-66)aGc>aAc	p.S22N	EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000338901.3_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000527388.1_Missense_Mutation_p.S22N|EDA_ENST00000524573.1_Missense_Mutation_p.S22N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	22					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GAGCGAGGGAGCCAGGGCTGC	0.716																																						ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14	GRCh37	CD011600	EDA	D		c.(64-66)aGc>aAc		ectodysplasin A							15	16	15					X																	68836217		2187	4241	6428	SO:0001583	missense	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:68836217G>A	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.65G>A	X.37:g.68836217G>A	ENSP00000363680:p.Ser22Asn					EDA_ENST00000374553.2_Missense_Mutation_p.S22N|EDA_ENST00000527388.1_Missense_Mutation_p.S22N|EDA_ENST00000525810.1_Missense_Mutation_p.S22N|EDA_ENST00000524573.1_Missense_Mutation_p.S22N|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000338901.3_Missense_Mutation_p.S22N	p.S22N	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			1	307	+			22					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Missense_Mutation	SNP	ENST00000374552.4	37	c.65G>A	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	G	9.128	1.010706	0.19277	.	.	ENSG00000158813	ENST00000513754;ENST00000338901;ENST00000374552;ENST00000374553;ENST00000525810;ENST00000527388;ENST00000524573	D;D;D;D;D;D	0.97791	-4.54;-3.69;-3.73;-4.5;-4.54;-3.58	4.56	1.84	0.25277	.	0.635376	0.15579	N	0.255024	D	0.92925	0.7749	N	0.19112	0.55	0.19775	N	0.999951	B;B;B;B;B;B;B;B	0.13594	0.001;0.0;0.001;0.003;0.001;0.003;0.008;0.003	B;B;B;B;B;B;B;B	0.11329	0.001;0.001;0.001;0.004;0.002;0.002;0.006;0.002	D	0.86464	0.1781	10	0.72032	D	0.01	-1.5345	6.1542	0.20328	0.3371:0.0:0.6629:0.0	.	22;22;22;22;22;22;22;22	Q92838-9;Q92838;Q92838-3;Q92838-8;Q92838-6;Q92838-2;Q92838-7;Q92838-5	.;EDA_HUMAN;.;.;.;.;.;.	N	22	ENSP00000340611:S22N;ENSP00000363680:S22N;ENSP00000363681:S22N;ENSP00000434195:S22N;ENSP00000434861:S22N;ENSP00000432585:S22N	ENSP00000340611:S22N	S	+	2	0	EDA	68752942	1.000000	0.71417	0.928000	0.36995	0.366000	0.29705	2.389000	0.44407	0.061000	0.16311	-0.208000	0.12717	AGC		0.716	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		13	158	0	0	0	1	0	13	158					A	68836217	G	A	68836217	3	1	79	1	0	0	0	0	1	0	0	0	4919	971	34	2	67	2	EDA	23	68836217	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	110765	68836217	86434343	21393	31710											
DGAT2L6	347516	broad.mit.edu	37	chrX	69420280	69420280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggatattttggatccCaattgtgcgagaatatgtga	11	4	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69420280C>T	ENST00000333026.3	+	4	543	c.443C>T	c.(442-444)cCa>cTa	p.P148L		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	148					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						TTTTGGATCCCAATTGTGCGA	0.408																																						ENST00000333026.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(442-444)cCa>cTa		diacylglycerol O-acyltransferase 2-like 6							112	90	98					X																	69420280		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69420280C>T	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.443C>T	X.37:g.69420280C>T	ENSP00000328036:p.Pro148Leu						p.P148L	NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN			4	543	+			148					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.443C>T	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902020	0.72754	.	.	ENSG00000184210	ENST00000333026	D	0.96745	-4.11	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	D	0.98444	0.9482	H	0.95079	3.62	0.80722	D	1	D	0.64830	0.994	P	0.61477	0.889	D	0.99425	1.0934	10	0.72032	D	0.01	-4.8718	14.8682	0.70434	0.0:1.0:0.0:0.0	.	148	Q6ZPD8	DG2L6_HUMAN	L	148	ENSP00000328036:P148L	ENSP00000328036:P148L	P	+	2	0	DGAT2L6	69337005	1.000000	0.71417	0.985000	0.45067	0.375000	0.29983	6.854000	0.75440	2.390000	0.81377	0.600000	0.82982	CCA		0.408	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512		43	178	0	0	0	1	0	43	178					T	69420280	C	T	69420280	3	4	79	1	0	0	0	0	1	0	0	0	4475	594	21	2	457	2	DGAT2L6	23	69420280	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	584063	69420280	85850280	21394	31711											
ARR3	407	broad.mit.edu	37	chrX	69497300	69497300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccaccggaggcaggccCtggcccctcagcccagacca	11	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69497300C>A	ENST00000307959.8	+	9	581	c.530C>A	c.(529-531)cCt>cAt	p.P177H	ARR3_ENST00000374495.3_Missense_Mutation_p.P177H	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	177					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAGGCAGGCCCTGGCCCCTCA	0.582																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(529-531)cCt>cAt		arrestin 3, retinal (X-arrestin)							72	62	65					X																	69497300		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69497300C>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.530C>A	X.37:g.69497300C>A	ENSP00000311538:p.Pro177His					ARR3_ENST00000307959.8_Missense_Mutation_p.P177H	p.P177H			P36575	ARRC_HUMAN			9	628	+			177					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.530C>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148748	0.78001	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.15718	2.4;2.79	4.37	4.37	0.52481	Immunoglobulin E-set (1);	0.164200	0.56097	D	0.000036	T	0.38321	0.1036	M	0.79258	2.445	0.51012	D	0.999904	D;D	0.67145	0.996;0.991	P;P	0.58172	0.712;0.834	T	0.42481	-0.9449	10	0.72032	D	0.01	.	15.4181	0.74987	0.0:1.0:0.0:0.0	.	177;177	P36575;P36575-2	ARRC_HUMAN;.	H	177	ENSP00000363619:P177H;ENSP00000311538:P177H	ENSP00000311538:P177H	P	+	2	0	ARR3	69414025	0.972000	0.33761	0.987000	0.45799	0.666000	0.39218	3.340000	0.52143	1.903000	0.55091	0.513000	0.50165	CCT		0.582	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		31	116	1	0	2.65835e-16	1	2.91905e-16	31	116					A	69497300	C	A	69497300	3	1	79	1	0	0	0	0	1	0	0	0	980	681	24	3	560	3	ARR3	23	69497300	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	77020	69497300	85773260	21395	31712											
KIF4A	24137	broad.mit.edu	37	chrX	69596055	69596055	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaagtaatacagttaaaaGaacgagtaagtaactaaaac	7	4	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69596055G>A	ENST00000374403.3	+	18	2111	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	677	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGTTAAAAGAACGAGTAAG	0.378																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2029-2031)Gaa>Aaa		kinesin family member 4A							49	46	47					X																	69596055		2203	4299	6502	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69596055G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2029G>A	X.37:g.69596055G>A	ENSP00000363524:p.Glu677Lys					KIF4A_ENST00000374388.3_Missense_Mutation_p.E677K	p.E677K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			18	2111	+			677			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2029G>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538489	0.85917	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.11821	2.74;2.74	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000021	T	0.10981	0.0268	N	0.20401	0.57	0.80722	D	1	P;B	0.46706	0.883;0.024	B;B	0.43867	0.434;0.047	T	0.24657	-1.0154	10	0.14252	T	0.57	.	16.1063	0.81225	0.0:0.0:1.0:0.0	.	677;677	O95239;O95239-2	KIF4A_HUMAN;.	K	677	ENSP00000363509:E677K;ENSP00000363524:E677K	ENSP00000363509:E677K	E	+	1	0	KIF4A	69512780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.484000	0.90445	2.347000	0.79759	0.594000	0.82650	GAA		0.378	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		9	137	0	0	0	1	0	9	137					A	69596055	G	A	69596055	3	1	79	1	0	0	0	0	1	0	0	0	8333	943	33	2	2095	2	KIF4A	23	69596055	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	98755	69596055	85674505	21396	31713											
DLG3	1741	broad.mit.edu	37	chrX	69719830	69719830	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	attcaggacaacaagttcatCgaggcgggccaatttaatga	10	8	2	1	rs535820581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69719830C>T	ENST00000374360.3	+	16	2309	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG3_ENST00000194900.4_Silent_p.I724I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Silent_p.I241I|DLG3_ENST00000374355.3_Silent_p.I387I	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	692	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ACAAGTTCATCGAGGCGGGCC	0.507													T|||	5	0.0013245	0.0	0.0	3775	,	,		13799	0.0		0.0	False		,,,				2504	0.0051					ENST00000194900.4																			0				endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22						c.(2170-2172)atC>atT		discs, large homolog 3 (Drosophila)							96	73	81					X																	69719830		2203	4300	6503	SO:0001819	synonymous_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69719830C>T	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"neuroendocrine-dlg", "protein phosphatase 1, regulatory subunit 82"	300189	"discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.2076C>T	X.37:g.69719830C>T						DLG3_ENST00000374360.3_Silent_p.I692I|DLG3_ENST00000374355.3_Silent_p.I387I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Silent_p.I241I	p.I724I			Q92796	DLG3_HUMAN			18	2513	+	Renal(35;0.156)		692			Guanylate kinase-like.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	c.2172C>T	CCDS14403.1																																																																																				0.507	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		37	118	0	0	0	1	0	37	118					T	69719830	C	T	69719830	2	4	79	1	0	0	0	0	0	0	0	1	4572	874	31	1		1	DLG3	23	69719830	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	123775	69719830	85550730	21397	31714											
TEX11	56159	broad.mit.edu	37	chrX	69749792	69749792	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcctgctaaacataagtaCtccggtattccaggacttga	8	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69749792C>T	ENST00000395889.2	-	30	2778	c.2623G>A	c.(2623-2625)Gta>Ata	p.V875I	TEX11_ENST00000374320.2_Missense_Mutation_p.V550I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000344304.3_Missense_Mutation_p.V875I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	875					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)					AACATAAGTACTCCGGTATTC	0.438																																						ENST00000395889.2																			0				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						c.(2623-2625)Gta>Ata		testis expressed 11							124	97	106					X																	69749792		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69749792C>T	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.2623G>A	X.37:g.69749792C>T	ENSP00000379226:p.Val875Ile					TEX11_ENST00000374320.2_Missense_Mutation_p.V550I|TEX11_ENST00000374333.2_Missense_Mutation_p.V860I|TEX11_ENST00000344304.3_Missense_Mutation_p.V875I	p.V875I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			30	2778	-	Renal(35;0.156)		875					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2623G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621150	0.00820	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.38887	1.7;1.69;1.11;1.69	4.33	1.86	0.25419	.	0.228496	0.32533	N	0.005965	T	0.10337	0.0253	N	0.00471	-1.455	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31806	-0.9930	9	.	.	.	-9.7909	5.8574	0.18727	0.0:0.3422:0.0:0.6578	.	860;875	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	860;875;550;875	ENSP00000363453:V860I;ENSP00000379226:V875I;ENSP00000363440:V550I;ENSP00000340995:V875I	.	V	-	1	0	TEX11	69666517	1.000000	0.71417	0.457000	0.27056	0.563000	0.35712	1.370000	0.34238	0.541000	0.28827	-0.428000	0.05917	GTA		0.438	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			100	314	0	0	0	1	0	100	314					T	69749792	C	T	69749792	3	4	79	1	0	0	0	0	1	0	0	0	15826	565	20	2	207	2	TEX11	23	69749792	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	29962	69749792	85520768	21398	31715											
TEX11	56159	broad.mit.edu	37	chrX	69843825	69843825	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagattccggcatttcagCaatttttggaagaagaaaac	8	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69843825C>T	ENST00000395889.2	-	21	1926	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	TEX11_ENST00000374320.2_Missense_Mutation_p.A266T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000344304.3_Missense_Mutation_p.A591T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	591					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)					GGCATTTCAGCAATTTTTGGA	0.308																																						ENST00000395889.2																			0				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						c.(1771-1773)Gct>Act		testis expressed 11							90	88	89					X																	69843825		2203	4300	6503	SO:0001583	missense	0						protein binding	g.chrX:69843825C>T	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.1771G>A	X.37:g.69843825C>T	ENSP00000379226:p.Ala591Thr					TEX11_ENST00000374320.2_Missense_Mutation_p.A266T|TEX11_ENST00000374333.2_Missense_Mutation_p.A576T|TEX11_ENST00000344304.3_Missense_Mutation_p.A591T	p.A591T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			21	1926	-	Renal(35;0.156)		591					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1771G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	1.495	-0.553547	0.03996	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	3.78	-6.73	0.01749	.	1.295100	0.05298	N	0.522521	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B	0.24426	0.103;0.063	B;B	0.28011	0.085;0.039	T	0.16600	-1.0397	9	.	.	.	.	0.3425	0.00336	0.2225:0.2971:0.2025:0.2779	.	576;591	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	576;591;266;591	ENSP00000363453:A576T;ENSP00000379226:A591T;ENSP00000363440:A266T;ENSP00000340995:A591T	.	A	-	1	0	TEX11	69760550	0.025000	0.19082	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-1.777000	0.01283	-0.465000	0.05216	GCT		0.308	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			66	254	0	0	0	1	0	66	254					T	69843825	C	T	69843825	3	4	79	1	0	0	0	0	1	0	0	0	15826	710	25	2	1095	2	TEX11	23	69843825	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	94033	69843825	85426735	21399	31716											
MED12	9968	broad.mit.edu	37	chrX	70348222	70348222	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaatggctaggagtgCttaaggccttgtgctgctcc	14	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70348222C>A	ENST00000374080.3	+	23	3318	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	MED12_ENST00000333646.6_Missense_Mutation_p.L1096I|MED12_ENST00000374102.1_Missense_Mutation_p.L1096I			Q93074	MED12_HUMAN	mediator complex subunit 12	1096					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)					GCTAGGAGTGCTTAAGGCCTT	0.507			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3286-3288)Ctt>Att		mediator complex subunit 12							122	115	117					X																	70348222		2134	4235	6369	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70348222C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3286C>A	X.37:g.70348222C>A	ENSP00000363193:p.Leu1096Ile					MED12_ENST00000374102.1_Missense_Mutation_p.L1096I|MED12_ENST00000374080.3_Missense_Mutation_p.L1096I	p.L1096I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			23	3485	+	Renal(35;0.156)		1096					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3286C>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.291488	0.80914	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.53561	1.675	0.80722	D	1	D;D;P;D	0.65815	0.995;0.988;0.815;0.98	P;P;P;P	0.62435	0.902;0.885;0.551;0.881	T	0.58923	-0.7550	10	0.49607	T	0.09	-12.9991	17.1584	0.86797	0.0:1.0:0.0:0.0	.	1096;943;1096;1096	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	1096;1096;1096;1096;1064	ENSP00000333125:L1096I;ENSP00000363215:L1096I;ENSP00000363193:L1096I;ENSP00000414203:L1064I	ENSP00000333125:L1096I	L	+	1	0	MED12	70264947	1.000000	0.71417	0.156000	0.22583	0.994000	0.84299	7.100000	0.76989	2.318000	0.78349	0.597000	0.82753	CTT		0.507	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		160	461	1	0	5.55526e-70	1	7.05424e-70	160	461					A	70348222	C	A	70348222	3	1	79	1	0	0	0	0	1	0	0	0	9469	797	28	3	3376	3	MED12	23	70348222	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	504397	70348222	84922338	21400	31717											
MED12	9968	broad.mit.edu	37	chrX	70356862	70356862	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cataggcctgtacacccagaAccagccactacctgcaggtg	9	15	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70356862A>C	ENST00000374080.3	+	38	5566	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000333646.6_Missense_Mutation_p.N1845T|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T			Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5533-5535)aAc>aCc		mediator complex subunit 12							16	18	18					X																	70356862		2003	4154	6157	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356862A>C	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.5534A>C	X.37:g.70356862A>C	ENSP00000363193:p.Asn1845Thr					MED12_ENST00000374102.1_Missense_Mutation_p.N1845T|MED12_ENST00000374080.3_Missense_Mutation_p.N1845T|MED12_ENST00000478889.1_3'UTR	p.N1845T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			38	5733	+	Renal(35;0.156)		1845			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5534A>C	CCDS43970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	16.49|16.49	3.138709|3.138709	0.56936|0.56936	.|.	.|.	ENSG00000184634|ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750|ENST00000444034	T;T;T;T;T|.	0.60040|.	0.22;0.24;0.24;0.24;1.2|.	3.78|3.78	3.78|3.78	0.43462|0.43462	Mediator complex, subunit Med12, catenin-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64472|0.64472	0.2601|0.2601	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.62365|.	0.989;0.991;0.989;0.991|.	D;D;D;D|.	0.74023|.	0.969;0.982;0.969;0.982|.	T|T	0.64118|0.64118	-0.6482|-0.6482	10|5	0.46703|.	T|.	0.11|.	-16.0047|-16.0047	12.2263|12.2263	0.54461|0.54461	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1845;1692;1845;1845|.	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074|.	.;.;.;MED12_HUMAN|.	T|P	1845;1845;1845;1845;1813;590|66	ENSP00000333125:N1845T;ENSP00000363215:N1845T;ENSP00000363193:N1845T;ENSP00000414203:N1813T;ENSP00000408388:N590T|.	ENSP00000333125:N1845T|.	N|T	+|+	2|1	0|0	MED12|MED12	70273587|70273587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	6.805000|6.805000	0.75191|0.75191	1.517000|1.517000	0.48917|0.48917	0.390000|0.390000	0.25778|0.25778	AAC|ACC		0.567	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	48	0	0	0	1	0	7	48					C	70356862	A	C	70356862	3	2	79	1	0	0	0	0	1	0	0	0	9469	43	2	4	5684	4	MED12	23	70356862	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	8640	70356862	84913698	21401	31718											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	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.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	265						7	265	---	---	---	---	-	70360682	GCA	-	70360680	7	5	79	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-IB-7651-01A-11D-2154-08	3818	70360680	84909880	21402	31719											
NLGN3	54413	broad.mit.edu	37	chrX	70375079	70375079	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacatccgggacagtgGtgctaaacccgtcatggtct	12	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70375079G>A	ENST00000358741.3	+	5	896	c.593G>A	c.(592-594)gGt>gAt	p.G198D	NLGN3_ENST00000374051.3_Missense_Mutation_p.G178D|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	198					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)					CGGGACAGTGGTGCTAAACCC	0.602																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(532-534)gGt>gAt		neuroligin 3							171	109	130					X																	70375079		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70375079G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.593G>A	X.37:g.70375079G>A	ENSP00000351591:p.Gly198Asp					NLGN3_ENST00000358741.3_Missense_Mutation_p.G198D|NLGN3_ENST00000536169.1_Missense_Mutation_p.G158D|NLGN3_ENST00000476589.1_3'UTR	p.G178D	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			4	855	+	Renal(35;0.156)		198					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.533G>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369061	0.42003	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	N	0.21545	0.675	0.58432	D	0.999996	B;B;B	0.32653	0.053;0.022;0.379	B;B;B	0.41646	0.362;0.029;0.248	T	0.56226	-0.8014	10	0.46703	T	0.11	.	16.4607	0.84044	0.0:0.0:1.0:0.0	.	158;158;178	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	D	158;61;178;158;198	ENSP00000445298:G158D;ENSP00000363163:G178D;ENSP00000379196:G158D;ENSP00000351591:G198D	ENSP00000351591:G198D	G	+	2	0	NLGN3	70291804	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.399000	0.79935	2.054000	0.61138	0.544000	0.68410	GGT		0.602	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		6	208	0	0	0	1	0	6	208					A	70375079	G	A	70375079	3	1	79	1	0	0	0	0	1	0	0	0	10505	1261	44	2	607	2	NLGN3	23	70375079	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	14399	70375079	84895481	21403	31720											
ZMYM3	9203	broad.mit.edu	37	chrX	70471421	70471421	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacccgttcaggcggcTtctcactcgccttcgcagtc	8	19	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70471421T>G	ENST00000353904.2	-	3	885	c.698A>C	c.(697-699)aAg>aCg	p.K233T	ZMYM3_ENST00000373998.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	233					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)					TTCAGGCGGCTTCTCACTCGC	0.597																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(697-699)aAg>aCg		zinc finger, MYM-type 3							54	32	39					X																	70471421		2199	4294	6493	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471421T>G	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.698A>C	X.37:g.70471421T>G	ENSP00000343909:p.Lys233Thr					ZMYM3_ENST00000353904.2_Missense_Mutation_p.K233T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.K233T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.K233T|ZMYM3_ENST00000373988.1_Missense_Mutation_p.K233T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.K233T	p.K233T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			3	1395	-	Renal(35;0.156)		233					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.698A>C	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	t	11.37	1.618980	0.28801	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.47177	1.45;0.87;1.45;1.43;1.43;0.85;0.85	4.3	1.71	0.24356	.	1.156830	0.06391	N	0.717056	T	0.27278	0.0669	N	0.19112	0.55	0.24063	N	0.996006	B;B;B	0.29716	0.255;0.065;0.039	B;B;B	0.26614	0.071;0.02;0.009	T	0.22034	-1.0228	10	0.19590	T	0.45	-11.5712	2.1559	0.03811	0.1405:0.0922:0.2733:0.4939	.	233;233;233	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	233	ENSP00000322845:K233T;ENSP00000363110:K233T;ENSP00000343909:K233T;ENSP00000363096:K233T;ENSP00000363100:K233T;ENSP00000363094:K233T;ENSP00000363093:K233T	ENSP00000322845:K233T	K	-	2	0	ZMYM3	70388146	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.613000	0.36900	0.541000	0.28827	0.347000	0.21830	AAG		0.597	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	25	0	0	0	1	0	6	25					G	70471421	T	G	70471421	3	3	79	1	0	0	0	0	1	0	0	0	17754	1609	56	4	3524	4	ZMYM3	23	70471421	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	96342	70471421	84799139	21404	31721											
TAF1	6872	broad.mit.edu	37	chrX	70586298	70586298	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcgggtttccttttcggcaAcatcaatggagccgggcagc	13	11	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70586298A>G	ENST00000373790.4	+	1	185	c.134A>G	c.(133-135)aAc>aGc	p.N45S	TAF1_ENST00000449580.1_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S|TAF1_ENST00000276072.3_Missense_Mutation_p.N45S	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	45	Protein kinase 1.				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)				CTTTTCGGCAACATCAATGGA	0.612																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(133-135)aAc>aGc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							34	34	34					X																	70586298		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70586298A>G		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.134A>G	X.37:g.70586298A>G	ENSP00000362895:p.Asn45Ser					TAF1_ENST00000276072.3_Missense_Mutation_p.N45S|TAF1_ENST00000373790.4_Missense_Mutation_p.N45S|TAF1_ENST00000423759.1_Missense_Mutation_p.N45S	p.N45S			P21675	TAF1_HUMAN			1	185	+	Renal(35;0.156)	all_lung(315;0.000321)	45			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.134A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.836481	0.91117	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.49139	1.05;1.2;0.83;0.79	4.99	4.99	0.66335	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.80616	2.505	0.58432	D	0.999995	P;D	0.61697	0.897;0.99	P;D	0.63703	0.498;0.917	T	0.72364	-0.4316	10	0.87932	D	0	.	12.403	0.55424	1.0:0.0:0.0:0.0	.	45;45	P21675;P21675-2	TAF1_HUMAN;.	S	45	ENSP00000362895:N45S;ENSP00000389000:N45S;ENSP00000406549:N45S;ENSP00000276072:N45S	ENSP00000276072:N45S	N	+	2	0	TAF1	70503023	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.385000	0.90163	1.790000	0.52503	0.414000	0.27820	AAC		0.612	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		44	147	0	0	0	1	0	44	147					G	70586298	A	G	70586298	3	3	79	1	0	0	0	0	1	0	0	0	15565	43	2	4	136	4	TAF1	23	70586298	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	114877	70586298	84684262	21405	31722											
TAF1	6872	broad.mit.edu	37	chrX	70595105	70595105	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccacccccgggaccaatgaaGaaggataaggaccaggattc	11	12	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70595105G>T	ENST00000373790.4	+	4	552	c.501G>T	c.(499-501)aaG>aaT	p.K167N	TAF1_ENST00000449580.1_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N|TAF1_ENST00000276072.3_Missense_Mutation_p.K167N	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	167	Protein kinase 1.				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)				GACCAATGAAGAAGGATAAGG	0.433																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(499-501)aaG>aaT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							117	99	105					X																	70595105		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70595105G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.501G>T	X.37:g.70595105G>T	ENSP00000362895:p.Lys167Asn					TAF1_ENST00000276072.3_Missense_Mutation_p.K167N|TAF1_ENST00000373790.4_Missense_Mutation_p.K167N|TAF1_ENST00000423759.1_Missense_Mutation_p.K167N	p.K167N			P21675	TAF1_HUMAN			4	552	+	Renal(35;0.156)	all_lung(315;0.000321)	167			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.501G>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	13.67	2.307933	0.40895	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09911	2.95;3.01;2.98;2.93	4.83	3.05	0.35203	.	0.052619	0.85682	D	0.000000	T	0.08537	0.0212	L	0.39633	1.23	0.40498	D	0.980611	B;B	0.26258	0.039;0.145	B;B	0.21708	0.016;0.036	T	0.26710	-1.0095	10	0.27785	T	0.31	.	8.1709	0.31254	0.4141:0.0:0.5859:0.0	.	167;167	P21675;P21675-2	TAF1_HUMAN;.	N	167	ENSP00000362895:K167N;ENSP00000389000:K167N;ENSP00000406549:K167N;ENSP00000276072:K167N	ENSP00000276072:K167N	K	+	3	2	TAF1	70511830	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	2.794000	0.47853	0.406000	0.25560	0.429000	0.28392	AAG		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		61	258	1	0	1.22119e-34	1	1.45331e-34	61	258					T	70595105	G	T	70595105	3	4	79	1	0	0	0	0	1	0	0	0	15565	933	33	3	515	3	TAF1	23	70595105	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8807	70595105	84675455	21406	31723											
TAF1	6872	broad.mit.edu	37	chrX	70603000	70603000	+	Frame_Shift_Del	DEL	A	A	-													aacctttgctaaagcacatcAaaaaaaaggccaaggtataa							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70603000delA	ENST00000373790.4	+	12	1981	c.1930delA	c.(1930-1932)aaafs	p.K646fs	TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs|TAF1_ENST00000449580.1_Frame_Shift_Del_p.K646fs	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	646	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)				AAAGCACATCAAAAAAAAGGC	0.408																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1930-1932)aafs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							44	42	43					X																	70603000		2203	4300	6503	SO:0001589	frameshift_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603000delA		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.1930delA	X.37:g.70603000delA	ENSP00000362895:p.Lys646fs					TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs	p.K646fs			P21675	TAF1_HUMAN			12	1981	+	Renal(35;0.156)	all_lung(315;0.000321)	646					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	c.1930delA	CCDS35325.1																																																																																				0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		7	274						7	274	---	---	---	---	-	70603000	A	-	70603000	7	5	79	1	0	1	0	1	0	0	0	0	15565	131	5	0	2039	0	TAF1	23	70603000	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	7895	70603000	84667560	21407	31724											
OGT	8473	broad.mit.edu	37	chrX	70777093	70777093	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttaccgcacggctctgAaacttaagcctgattttcct	6	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70777093A>G	ENST00000373719.3	+	11	1586	c.1369A>G	c.(1369-1371)Aaa>Gaa	p.K457E	OGT_ENST00000373701.3_Missense_Mutation_p.K447E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	457					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)					CACGGCTCTGAAACTTAAGCC	0.378																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1369-1371)Aaa>Gaa		O-linked N-acetylglucosamine (GlcNAc) transferase							57	52	54					X																	70777093		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70777093A>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1369A>G	X.37:g.70777093A>G	ENSP00000362824:p.Lys457Glu					OGT_ENST00000373701.3_Missense_Mutation_p.K447E	p.K457E	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			11	1586	+	Renal(35;0.156)		457					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.1369A>G	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879038	0.72294	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.15952	2.38;2.38	5.77	5.77	0.91146	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	N	0.04655	-0.195	0.80722	D	1	D;P;D	0.58620	0.983;0.615;0.966	D;B;P	0.64877	0.93;0.391;0.832	T	0.36744	-0.9735	10	0.16896	T	0.51	-38.1856	15.0385	0.71767	1.0:0.0:0.0:0.0	.	331;447;457	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	E	457;447	ENSP00000362824:K457E;ENSP00000362805:K447E	ENSP00000362805:K447E	K	+	1	0	OGT	70693818	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.266000	0.95659	1.934000	0.56057	0.481000	0.45027	AAA		0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		11	63	0	0	0	1	0	11	63					G	70777093	A	G	70777093	3	3	79	1	0	0	0	0	1	0	0	0	10889	247	9	4	1411	4	OGT	23	70777093	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	174093	70777093	84493467	21408	31725											
ACRC	93953	broad.mit.edu	37	chrX	70824397	70824397	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaactattgtggagccaCcgaggaaaaggcagacaaag	11	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70824397C>T	ENST00000373695.1	+	7	1807	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	ACRC_ENST00000373696.3_Missense_Mutation_p.P424S			Q96QF7	ACRC_HUMAN	acidic repeat containing	424	Arg/Lys/Pro-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTGGAGCCACCGAGGAAAAG	0.463																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(1270-1272)Ccg>Tcg		acidic repeat containing							60	43	49					X																	70824397		2201	4297	6498	SO:0001583	missense	93953					nucleus		g.chrX:70824397C>T	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.1270C>T	X.37:g.70824397C>T	ENSP00000362799:p.Pro424Ser					ACRC_ENST00000373696.3_Missense_Mutation_p.P424S	p.P424S			Q96QF7	ACRC_HUMAN			7	1807	+	Renal(35;0.156)		424			Arg/Lys/Pro-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1270C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	3.952	-0.012026	0.07727	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.30448	1.53;1.53	0.656	0.656	0.17844	.	.	.	.	.	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	8	0.08179	T	0.78	.	.	.	.	.	424	Q96QF7	ACRC_HUMAN	S	424	ENSP00000362800:P424S;ENSP00000362799:P424S	ENSP00000362799:P424S	P	+	1	0	ACRC	70741122	0.001000	0.12720	0.008000	0.14137	0.007000	0.05969	-1.000000	0.03693	0.559000	0.29153	0.271000	0.19318	CCG		0.463	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			11	36	0	0	0	1	0	11	36					T	70824397	C	T	70824397	3	4	79	1	0	0	0	0	1	0	0	0	171	507	18	2	1296	2	ACRC	23	70824397	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	47304	70824397	84446163	21409	31726											
RGAG4	340526	broad.mit.edu	37	chrX	71350291	71350291	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatctcttgctgaaaagccCtcatgcgcttcctctggtcc	7	15	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	RGAG4_ENST00000609883.1_Missense_Mutation_p.R367M|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(1099-1101)aGg>aTg		retrotransposon gag domain containing 4							44	37	39					X																	71350291		2008	4162	6170	SO:0001583	missense	340526							g.chrX:71350291C>A	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.1100G>T	X.37:g.71350291C>A	ENSP00000441366:p.Arg367Met					RGAG4_ENST00000479991.1_Missense_Mutation_p.R367M|NHSL2_ENST00000540800.1_Intron	p.R367M			Q5HYW3	RGAG4_HUMAN			1	1467	-	Renal(35;0.156)		367					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.1100G>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261320	0.39995	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.15952	2.38;2.38	4.13	1.3	0.21679	.	.	.	.	.	T	0.11452	0.0279	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	B	0.44044	0.439	T	0.20806	-1.0264	8	.	.	.	-0.8425	6.8825	0.24181	0.0:0.5677:0.3302:0.1021	.	367	Q5HYW3	RGAG4_HUMAN	M	367	ENSP00000441366:R367M;ENSP00000418667:R367M	.	R	-	2	0	RGAG4	71267016	0.000000	0.05858	0.000000	0.03702	0.399000	0.30720	0.305000	0.19254	0.133000	0.18654	0.600000	0.82982	AGG		0.488	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		32	85	1	0	5.45727e-16	1	5.98072e-16	32	85					A	71350291	C	A	71350291	3	1	79	1	0	0	0	0	1	0	0	0	13325	681	24	3	613	3	RGAG4	23	71350291	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	525894	71350291	83920269	21410	31727											
RGAG4	340526	broad.mit.edu	37	chrX	71351008	71351008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggaggcagcgccggcGggggcgggatgggcagcaga	24	10	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71351008G>A	ENST00000545866.1	-	1	750	c.383C>T	c.(382-384)cCg>cTg	p.P128L	RGAG4_ENST00000609883.1_Missense_Mutation_p.P128L|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000535692.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	128	Poly-Pro.									cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CAGCGCCGGCGGGGGCGGGAT	0.672																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(382-384)cCg>cTg		retrotransposon gag domain containing 4							5	5	5					X																	71351008		1553	3539	5092	SO:0001583	missense	340526							g.chrX:71351008G>A	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.383C>T	X.37:g.71351008G>A	ENSP00000441366:p.Pro128Leu					RGAG4_ENST00000479991.1_Missense_Mutation_p.P128L|NHSL2_ENST00000540800.1_Intron	p.P128L			Q5HYW3	RGAG4_HUMAN			1	750	-	Renal(35;0.156)		128			Poly-Pro.		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.383C>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	0.848	-0.739485	0.03088	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12672	2.66;2.66	4.32	-2.01	0.07410	.	.	.	.	.	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.42275	-0.9461	8	.	.	.	-0.0463	3.2472	0.06801	0.3953:0.0:0.2926:0.3121	.	128	Q5HYW3	RGAG4_HUMAN	L	128	ENSP00000441366:P128L;ENSP00000418667:P128L	.	P	-	2	0	RGAG4	71267733	0.040000	0.19996	0.000000	0.03702	0.015000	0.08874	-0.106000	0.10890	-0.650000	0.05423	-0.909000	0.02823	CCG		0.672	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		26	59	0	0	0	1	0	26	59					A	71351008	G	A	71351008	3	1	79	1	0	0	0	0	1	0	0	0	13325	1116	39	1	1330	1	RGAG4	23	71351008	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	717	71351008	83919552	21411	31728											
NHSL2	340527	broad.mit.edu	37	chrX	71359770	71359770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggatgagtatctccatccGaagcaaaactaaggtgagtc	11	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71359770G>A	ENST00000373677.1	+	2	2536	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q|NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q			Q5HYW2	NHSL2_HUMAN	NHS-like 2	425	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCTCCATCCGAAGCAAAACT	0.483																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1273-1275)cGa>cAa		NHS-like 2							101	79	86					X																	71359770		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71359770G>A			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.1274G>A	X.37:g.71359770G>A	ENSP00000362781:p.Arg425Gln					NHSL2_ENST00000535692.1_Missense_Mutation_p.R425Q|NHSL2_ENST00000540800.1_Missense_Mutation_p.R791Q|NHSL2_ENST00000510661.1_Missense_Mutation_p.R560Q	p.R425Q			F5H593	F5H593_HUMAN			2	2536	+	Renal(35;0.156)		791					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.1274G>A		.	.	.	.	.	.	.	.	.	.	G	10.14	1.268020	0.23136	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47177	1.46;0.87;0.85;0.87	5.93	4.02	0.46733	.	0.336461	0.23211	N	0.050675	T	0.37210	0.0995	L	0.51422	1.61	0.27091	N	0.962858	B;B;B	0.21381	0.032;0.055;0.055	B;B;B	0.12837	0.008;0.008;0.008	T	0.36407	-0.9749	10	0.59425	D	0.04	-0.4929	4.5488	0.12098	0.2009:0.1782:0.6209:0.0	.	791;560;425	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	Q	791;425;560;425	ENSP00000444617:R791Q;ENSP00000362781:R425Q;ENSP00000424079:R560Q;ENSP00000444914:R425Q	ENSP00000362781:R425Q	R	+	2	0	NHSL2	71276495	1.000000	0.71417	0.974000	0.42286	0.697000	0.40408	2.671000	0.46842	1.214000	0.43395	0.600000	0.82982	CGA		0.483	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		35	113	0	0	0	1	0	35	113					A	71359770	G	A	71359770	3	1	79	1	0	0	0	0	1	0	0	0	10454	1058	37	1	2394	1	NHSL2	23	71359770	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8762	71359770	83910790	21412	31729											
NHSL2	340527	broad.mit.edu	37	chrX	71360063	71360063	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagcttggtccacaagccaCcatctgttcctgaggagtat	9	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71360063C>T	ENST00000373677.1	+	2	2829	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S	NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S|NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S			Q5HYW2	NHSL2_HUMAN	NHS-like 2	523										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACAAGCCACCATCTGTTCC	0.547																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(1567-1569)Cca>Tca		NHS-like 2							86	66	73					X																	71360063		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360063C>T			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.1567C>T	X.37:g.71360063C>T	ENSP00000362781:p.Pro523Ser					NHSL2_ENST00000535692.1_Missense_Mutation_p.P523S|NHSL2_ENST00000540800.1_Missense_Mutation_p.P889S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P658S	p.P523S			F5H593	F5H593_HUMAN			2	2829	+	Renal(35;0.156)		889					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.1567C>T		.	.	.	.	.	.	.	.	.	.	C	9.521	1.108197	0.20714	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.47528	1.48;0.84;0.84;0.84	5.35	3.52	0.40303	.	0.397307	0.22843	N	0.054947	T	0.41119	0.1145	L	0.59436	1.845	0.39895	D	0.973823	B;B;B	0.24426	0.061;0.103;0.061	B;B;B	0.23419	0.046;0.046;0.029	T	0.26538	-1.0100	10	0.36615	T	0.2	-1.8731	7.8044	0.29193	0.1603:0.7517:0.0:0.088	.	889;658;523	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	889;523;658;523	ENSP00000444617:P889S;ENSP00000362781:P523S;ENSP00000424079:P658S;ENSP00000444914:P523S	ENSP00000362781:P523S	P	+	1	0	NHSL2	71276788	1.000000	0.71417	0.931000	0.37212	0.720000	0.41350	1.944000	0.40263	0.677000	0.31305	0.600000	0.82982	CCA		0.547	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		25	195	0	0	0	1	0	25	195					T	71360063	C	T	71360063	3	4	79	1	0	0	0	0	1	0	0	0	10454	507	18	2	2687	2	NHSL2	23	71360063	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	293	71360063	83910497	21413	31730											
NAP1L2	4674	broad.mit.edu	37	chrX	72434219	72434219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtctccaagcccagcagcgGcatcttcaccgcgctccaga	9	18	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72434219G>A	ENST00000373517.3	-	1	465	c.110C>T	c.(109-111)gCc>gTc	p.A37V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	37					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)	p.A37V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCAGCAGCGGCATCTTCACC	0.577																																						ENST00000373517.3																			1	Substitution - Missense(1)	p.A37V(1)	kidney(1)	NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(109-111)gCc>gTc		nucleosome assembly protein 1-like 2							55	51	52					X																	72434219		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72434219G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.110C>T	X.37:g.72434219G>A	ENSP00000362616:p.Ala37Val					NAP1L2_ENST00000536638.1_Intron	p.A37V	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	465	-	Renal(35;0.156)		37					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.110C>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	0.254	-1.004577	0.02112	.	.	ENSG00000186462	ENST00000373517	D	0.91631	-2.88	3.1	1.25	0.21368	.	0.493565	0.19867	N	0.104294	T	0.77384	0.4122	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61907	-0.6966	10	0.12766	T	0.61	0.241	4.486	0.11790	0.347:0.0:0.653:0.0	.	37	Q9ULW6	NP1L2_HUMAN	V	37	ENSP00000362616:A37V	ENSP00000362616:A37V	A	-	2	0	NAP1L2	72350944	0.686000	0.27661	0.001000	0.08648	0.199000	0.23934	0.186000	0.16978	0.187000	0.20147	0.600000	0.82982	GCC		0.577	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		81	277	0	0	0	1	0	81	277					A	72434219	G	A	72434219	3	1	79	1	0	0	0	0	1	0	0	0	10198	1203	42	2	1276	2	NAP1L2	23	72434219	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1074156	72434219	82836341	21414	31731											
CDX4	1046	broad.mit.edu	37	chrX	72667226	72667226	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcctccaatttcgctgCggcaccggctttctcgcact	9	17	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72667226C>T	ENST00000373514.2	+	1	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	46					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AATTTCGCTGCGGCACCGGCT	0.647																																						ENST00000373514.2																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18						c.(136-138)gCg>gTg		caudal type homeobox 4							41	37	38					X																	72667226		2203	4300	6503	SO:0001583	missense	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667226C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"Homeoboxes / ANTP class : HOXL subclass"	1808	protein-coding gene	gene with protein product		300025	"caudal type homeo box transcription factor 4"			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.137C>T	X.37:g.72667226C>T	ENSP00000362613:p.Ala46Val						p.A46V	NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN			1	137	+	Renal(35;0.156)		46					A1A513|Q5JS20	Missense_Mutation	SNP	ENST00000373514.2	37	c.137C>T	CCDS14424.1	.	.	.	.	.	.	.	.	.	.	.	3.372	-0.128297	0.06753	.	.	ENSG00000131264	ENST00000373514	T	0.48522	0.81	2.57	1.69	0.24217	Caudal-like activation domain (1);	0.315565	0.30630	N	0.009220	T	0.37019	0.0988	L	0.41961	1.31	0.23162	N	0.9982	B	0.09022	0.002	B	0.09377	0.004	T	0.27971	-1.0058	10	0.48119	T	0.1	-4.2406	9.9804	0.41811	0.0:0.8693:0.0:0.1307	.	46	O14627	CDX4_HUMAN	V	46	ENSP00000362613:A46V	ENSP00000362613:A46V	A	+	2	0	CDX4	72583951	0.988000	0.35896	0.003000	0.11579	0.005000	0.04900	4.335000	0.59298	0.078000	0.16900	-1.701000	0.00721	GCG		0.647	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193		16	160	0	0	0	1	0	16	160					T	72667226	C	T	72667226	3	4	79	1	0	0	0	0	1	0	0	0	3193	768	27	1	139	1	CDX4	23	72667226	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	233007	72667226	82603334	21415	31732											
KIAA2022	340533	broad.mit.edu	37	chrX	73960434	73960434	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	accagaggcaatgttggacaAgatataggaaggctcctgaa	12	7	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	ENST00000055682.6	-	3	4569	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1320					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						ATGTTGGACAAGATATAGGAA	0.527																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(3958-3960)Ttg>Gtg		KIAA2022							114	107	109					X																	73960434		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960434A>C		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.3958T>G	X.37:g.73960434A>C	ENSP00000055682:p.Leu1320Val					KIAA2022_ENST00000055682.5_Missense_Mutation_p.L1320V	p.L1320V			Q5QGS0	K2022_HUMAN			3	4609	-			1320					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3958T>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	A	14.90	2.672855	0.47781	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42900	0.96;0.96	5.55	4.39	0.52855	.	0.078788	0.52532	D	0.000061	T	0.48187	0.1486	L	0.34521	1.04	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.50808	-0.8784	10	0.87932	D	0	-4.7705	6.1117	0.20104	0.7472:0.0:0.2528:0.0	.	1320	Q5QGS0	K2022_HUMAN	V	1320	ENSP00000362567:L1320V;ENSP00000055682:L1320V	ENSP00000055682:L1320V	L	-	1	2	KIAA2022	73877159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.035000	0.49759	1.853000	0.53794	0.441000	0.28932	TTG		0.527	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		105	324	0	0	0	1	0	105	324					C	73960434	A	C	73960434	3	2	79	1	0	0	0	0	1	0	0	0	8299	69	3	4	600	4	KIAA2022	23	73960434	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1293208	73960434	81310126	21416	31733											
KIAA2022	340533	broad.mit.edu	37	chrX	73964099	73964099	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccagatgtgagggagatgGcattcacagaagcactatta	12	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	ENST00000055682.6	-	3	904	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	98					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						GAGGGAGATGGCATTCACAGA	0.517																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(292-294)gCc>gAc		KIAA2022							104	93	97					X																	73964099		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964099G>T		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.293C>A	X.37:g.73964099G>T	ENSP00000055682:p.Ala98Asp					KIAA2022_ENST00000055682.5_Missense_Mutation_p.A98D	p.A98D			Q5QGS0	K2022_HUMAN			3	944	-			98					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.293C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112719	0.56398	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.40225	1.04;1.04	5.2	5.2	0.72013	.	0.115622	0.56097	D	0.000021	T	0.55816	0.1944	L	0.44542	1.39	0.45662	D	0.998584	D	0.67145	0.996	P	0.62184	0.899	T	0.59059	-0.7525	10	0.87932	D	0	-8.8622	17.8486	0.88738	0.0:0.0:1.0:0.0	.	98	Q5QGS0	K2022_HUMAN	D	98	ENSP00000362567:A98D;ENSP00000055682:A98D	ENSP00000055682:A98D	A	-	2	0	KIAA2022	73880824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.893000	0.75649	2.403000	0.81681	0.600000	0.82982	GCC		0.517	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		87	292	1	0	1.42074e-37	1	1.70676e-37	87	292					T	73964099	G	T	73964099	3	4	79	1	0	0	0	0	1	0	0	0	8299	1203	42	3	4265	3	KIAA2022	23	73964099	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3665	73964099	81306461	21417	31734											
MAGEE2	139599	broad.mit.edu	37	chrX	75004464	75004464	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaataactctcaggttcaaCccaaagacctggtccaggtg	8	12	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75004464C>T	ENST00000373359.2	-	1	615	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	141	MAGE 1. {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						TCAGGTTCAACCCAAAGACCT	0.517																																						ENST00000373359.2																			0				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						c.(421-423)ggG>ggA		melanoma antigen family E, 2							32	28	30					X																	75004464		2203	4300	6503	SO:0001819	synonymous_variant	139599							g.chrX:75004464C>T	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.423G>A	X.37:g.75004464C>T							p.G141G	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	615	-			141			MAGE 1.		Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.423G>A	CCDS14431.1																																																																																				0.517	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		25	85	0	0	0	1	0	25	85					T	75004464	C	T	75004464	2	4	79	1	0	0	0	0	0	0	0	1	9227	494	18	2		2	MAGEE2	23	75004464	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1040365	75004464	80266096	21418	31735											
MAGEE1	57692	broad.mit.edu	37	chrX	75648934	75648934	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctccgtgctgcctacacCtggtgagggaccaggcacct	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75648934C>T	ENST00000361470.2	+	1	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	204	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						CTGCCTACACCTGGTGAGGGA	0.687																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(610-612)cCt>cTt		melanoma antigen family E, 1							24	20	21					X																	75648934		2197	4293	6490	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648934C>T	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.611C>T	X.37:g.75648934C>T	ENSP00000354912:p.Pro204Leu						p.P204L	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	889	+			204			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.611C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	3.245	-0.154579	0.06544	.	.	ENSG00000198934	ENST00000361470	T	0.08984	3.03	2.06	-0.765	0.11023	.	.	.	.	.	T	0.02455	0.0075	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46707	-0.9172	9	0.14656	T	0.56	.	2.9393	0.05825	0.2359:0.5127:0.0:0.2513	.	204	Q9HCI5	MAGE1_HUMAN	L	204	ENSP00000354912:P204L	ENSP00000354912:P204L	P	+	2	0	MAGEE1	75565338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.217000	0.02979	-0.317000	0.08677	-0.371000	0.07208	CCT		0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		16	123	0	0	0	1	0	16	123					T	75648934	C	T	75648934	3	4	79	1	0	0	0	0	1	0	0	0	9226	681	24	2	613	2	MAGEE1	23	75648934	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	644470	75648934	79621626	21419	31736											
MAGEE1	57692	broad.mit.edu	37	chrX	75650590	75650590	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagctggtgcagttatTtctgcttatggattcaacta	10	6	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75650590T>G	ENST00000361470.2	+	1	2545	c.2267T>G	c.(2266-2268)tTt>tGt	p.F756C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	756	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCAGTTATTTCTGCTTATG	0.463																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2266-2268)tTt>tGt		melanoma antigen family E, 1							79	69	72					X																	75650590		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650590T>G	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2267T>G	X.37:g.75650590T>G	ENSP00000354912:p.Phe756Cys						p.F756C	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2545	+			756			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2267T>G	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	11.93	1.787028	0.31593	.	.	ENSG00000198934	ENST00000361470	T	0.04970	3.52	2.52	1.24	0.21308	.	.	.	.	.	T	0.10508	0.0257	N	0.24115	0.695	0.20196	N	0.999928	D	0.76494	0.999	D	0.79108	0.992	T	0.25117	-1.0141	9	0.87932	D	0	.	4.0955	0.09988	0.3819:0.0:0.0:0.6181	.	756	Q9HCI5	MAGE1_HUMAN	C	756	ENSP00000354912:F756C	ENSP00000354912:F756C	F	+	2	0	MAGEE1	75566994	1.000000	0.71417	0.443000	0.26883	0.996000	0.88848	1.535000	0.36061	0.218000	0.20820	0.486000	0.48141	TTT		0.463	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		81	261	0	0	0	1	0	81	261					G	75650590	T	G	75650590	3	3	79	1	0	0	0	0	1	0	0	0	9226	1841	64	4	2269	4	MAGEE1	23	75650590	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1656	75650590	79619970	21420	31737											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc					rs398123423|rs587780286		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				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						ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	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.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		14	596						14	596	---	---	---	---	-	76907784	TCC	-	76907782	7	5	79	1	0	1	0	1	0	0	0	0	1209	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-IB-7651-01A-11D-2154-08	1257192	76907782	78362778	21421	31738											
ATRX	546	broad.mit.edu	37	chrX	76939224	76939224	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtctaaatcttcagaagtGttggcaggttcatattgagg	11	5	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76939224G>A	ENST00000373344.5	-	9	1738	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.N470N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	508					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						CTTCAGAAGTGTTGGCAGGTT	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1522-1524)aaC>aaT		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						211	212	212					X																	76939224		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939224G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1524C>T	X.37:g.76939224G>A						ATRX_ENST00000395603.3_Silent_p.N470N|ATRX_ENST00000480283.1_5'UTR	p.N508N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1738	-			508					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1524C>T	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		314	1107	0	0	0	1	0	314	1107					A	76939224	G	A	76939224	2	1	79	1	0	0	0	0	0	0	0	1	1209	1368	48	2		2	ATRX	23	76939224	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31442	76939224	78331336	21422	31739											
MAGT1	84061	broad.mit.edu	37	chrX	77131009	77131009	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggtggggctttcacaaggCgacggaacttgtctccattc	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77131009C>T	ENST00000373336.3	-	2	217	c.188G>A	c.(187-189)cGc>cAc	p.R63H	MAGT1_ENST00000358075.6_Missense_Mutation_p.R95H			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	63	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						TTTCACAAGGCGACGGAACTT	0.418																																						ENST00000358075.6																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(283-285)cGc>cAc		magnesium transporter 1							234	214	221					X																	77131009		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77131009C>T		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog B (S. cerevisiae)"	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.188G>A	X.37:g.77131009C>T	ENSP00000362433:p.Arg63His					MAGT1_ENST00000373336.3_Missense_Mutation_p.R63H	p.R95H	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN			2	370	-			63					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	C	18.10	3.547448	0.65311	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.22945	1.93;1.93	5.69	5.69	0.88448	Thioredoxin-like fold (2);	0.000000	0.85682	U	0.000000	T	0.25121	0.0610	L	0.42245	1.32	0.80722	D	1	P;B	0.48998	0.918;0.039	B;B	0.38562	0.276;0.01	T	0.02121	-1.1210	10	0.42905	T	0.14	-4.5856	18.8512	0.92230	0.0:1.0:0.0:0.0	.	63;95	Q9H0U3;B4DH58	MAGT1_HUMAN;.	H	95;63	ENSP00000354649:R95H;ENSP00000362433:R63H	ENSP00000354649:R95H	R	-	2	0	MAGT1	77017665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.398000	0.81561	0.600000	0.82982	CGC		0.418	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		194	565	0	0	0	1	0	194	565					T	77131009	C	T	77131009	3	4	79	1	0	0	0	0	1	0	0	0	9237	768	27	1	855	1	MAGT1	23	77131009	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	191785	77131009	78139551	21423	31740											
ATP7A	538	broad.mit.edu	37	chrX	77244750	77244750	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggacaatcaagaagCtactattgtttatcaacctc	5	12	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77244750C>A	ENST00000341514.6	+	4	787	c.632C>A	c.(631-633)gCt>gAt	p.A211D	ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	211	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AATCAAGAAGCTACTATTGTT	0.338																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(631-633)gCt>gAt		ATPase, Cu++ transporting, alpha polypeptide							34	36	35					X																	77244750		2203	4293	6496	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77244750C>A	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.632C>A	X.37:g.77244750C>A	ENSP00000345728:p.Ala211Asp					ATP7A_ENST00000343533.5_Missense_Mutation_p.A211D|ATP7A_ENST00000350425.4_Intron	p.A211D	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	787	+			211			HMA 2.		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.632C>A	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	c	18.60	3.658389	0.67586	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.87809	-2.3;-2.3	4.68	4.68	0.58851	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	U	0.000000	D	0.96571	0.8881	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98962	1.0798	10	0.87932	D	0	-4.844	17.0033	0.86386	0.0:1.0:0.0:0.0	.	211;221	Q04656;Q59HD1	ATP7A_HUMAN;.	D	211;211;211;221	ENSP00000343026:A211D;ENSP00000345728:A211D	ENSP00000345728:A211D	A	+	2	0	ATP7A	77131406	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.081000	0.71309	1.933000	0.56026	0.515000	0.50301	GCT		0.338	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		47	171	1	0	2.13384e-23	1	2.42615e-23	47	171					A	77244750	C	A	77244750	3	1	79	1	0	0	0	0	1	0	0	0	1191	797	28	3	642	3	ATP7A	23	77244750	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	113741	77244750	78025810	21424	31741											
ATP7A	538	broad.mit.edu	37	chrX	77289223	77289223	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaataactggaatatagagGacaataatattaaaaatgca	7	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77289223G>T	ENST00000341514.6	+	17	3570	c.3415G>T	c.(3415-3417)Gac>Tac	p.D1139Y	ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y|ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1139					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GAATATAGAGGACAATAATAT	0.388																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3415-3417)Gac>Tac		ATPase, Cu++ transporting, alpha polypeptide							123	115	118					X																	77289223		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77289223G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3415G>T	X.37:g.77289223G>T	ENSP00000345728:p.Asp1139Tyr					ATP7A_ENST00000343533.5_Missense_Mutation_p.D1061Y|ATP7A_ENST00000350425.4_Missense_Mutation_p.D142Y	p.D1139Y	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			17	3570	+			1139					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3415G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608886	0.46527	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97404	-3.97;-4.37;-3.99	5.27	5.27	0.74061	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.171981	0.50627	D	0.000101	D	0.91905	0.7437	N	0.02011	-0.69	0.33534	D	0.593974	P	0.34864	0.473	B	0.42138	0.377	D	0.94682	0.7866	10	0.62326	D	0.03	-6.7771	13.8071	0.63238	0.0:0.1492:0.8508:0.0	.	1139	Q04656	ATP7A_HUMAN	Y	1061;142;1139	ENSP00000343026:D1061Y;ENSP00000343678:D142Y;ENSP00000345728:D1139Y	ENSP00000345728:D1139Y	D	+	1	0	ATP7A	77175879	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.313000	0.78978	2.311000	0.77944	0.600000	0.82982	GAC		0.388	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		82	277	1	0	3.1711e-36	1	3.79393e-36	82	277					T	77289223	G	T	77289223	3	4	79	1	0	0	0	0	1	0	0	0	1191	1174	41	3	3477	3	ATP7A	23	77289223	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	44473	77289223	77981337	21425	31742											
PGK1	5230	broad.mit.edu	37	chrX	77369532	77369532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gggatgttctgttcttgaagGactgtgtaggcccagaagtg	15	6	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369532G>T	ENST00000373316.4	+	4	459	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	98					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)	GTTCTTGAAGGACTGTGTAGG	0.502																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(292-294)Gac>Tac		phosphoglycerate kinase 1							123	126	125					X																	77369532		2203	4297	6500	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369532G>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.292G>T	X.37:g.77369532G>T	ENSP00000362413:p.Asp98Tyr					PGK1_ENST00000537456.1_Missense_Mutation_p.D70Y|PGK1_ENST00000442431.1_Intron	p.D98Y	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			4	459	+			98					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.292G>T	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.121848	0.77436	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.94184	-3.37;-3.37	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.99838	4.83	0.58432	D	0.999999	P	0.48834	0.916	P	0.51974	0.686	D	0.99675	1.0997	10	0.87932	D	0	-12.4287	16.5542	0.84481	0.0:0.0:1.0:0.0	.	98	P00558	PGK1_HUMAN	Y	98;70	ENSP00000362413:D98Y;ENSP00000444708:D70Y	ENSP00000362413:D98Y	D	+	1	0	PGK1	77256188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.214000	0.95140	2.197000	0.70478	0.591000	0.81541	GAC		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			65	765	1	0	2.17656e-39	1	2.63193e-39	65	765					T	77369532	G	T	77369532	3	4	79	1	0	0	0	0	1	0	0	0	11832	1174	41	3	306	3	PGK1	23	77369532	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	80309	77369532	77901028	21426	31743											
PGK1	5230	broad.mit.edu	37	chrX	77369650	77369650	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagggaaaagatgcttctgGgaacaaggtaggacctgtga	15	5	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369650G>A	ENST00000373316.4	+	4	577	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PGK1_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	137					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)	GATGCTTCTGGGAACAAGGTA	0.483																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(409-411)gGg>gAg		phosphoglycerate kinase 1							135	144	141					X																	77369650		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77369650G>A	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.410G>A	X.37:g.77369650G>A	ENSP00000362413:p.Gly137Glu					PGK1_ENST00000537456.1_Missense_Mutation_p.G109E|PGK1_ENST00000442431.1_Intron	p.G137E	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			4	577	+			137					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.410G>A	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.659388	0.88154	.	.	ENSG00000102144	ENST00000373316;ENST00000537456	D;D	0.92495	-3.05;-3.05	4.98	4.98	0.66077	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	N	0.01874	-0.695	0.80722	D	1	P	0.51653	0.947	P	0.57204	0.815	D	0.92061	0.5656	10	0.72032	D	0.01	-11.2942	16.5542	0.84481	0.0:0.0:1.0:0.0	.	137	P00558	PGK1_HUMAN	E	137;109	ENSP00000362413:G137E;ENSP00000444708:G109E	ENSP00000362413:G137E	G	+	2	0	PGK1	77256306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.197000	0.70478	0.591000	0.81541	GGG		0.483	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			164	664	0	0	0	1	0	164	664					A	77369650	G	A	77369650	3	1	79	1	0	0	0	0	1	0	0	0	11832	1232	43	2	424	2	PGK1	23	77369650	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	118	77369650	77900910	21427	31744											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913260	77913260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggaaactctgaagctgCtgatgtctccacaactatta	8	10	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77913260C>T	ENST00000321110.1	-	2	953	c.658G>A	c.(658-660)Gca>Aca	p.A220T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	220							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						TCTGAAGCTGCTGATGTCTCC	0.522																																						ENST00000321110.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						c.(658-660)Gca>Aca		zinc finger, CCHC domain containing 5							34	34	34					X																	77913260		2203	4300	6503	SO:0001583	missense	203430						nucleic acid binding|zinc ion binding	g.chrX:77913260C>T	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.658G>A	X.37:g.77913260C>T	ENSP00000316794:p.Ala220Thr						p.A220T	NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN			2	953	-			220					B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	c.658G>A	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	C	5.120	0.207840	0.09704	.	.	ENSG00000179300	ENST00000321110	T	0.18338	2.22	3.03	1.04	0.20106	.	.	.	.	.	T	0.06508	0.0167	N	0.04508	-0.205	0.09310	N	1	B	0.20550	0.046	B	0.17979	0.02	T	0.43861	-0.9365	9	0.15066	T	0.55	.	6.2909	0.21059	0.0:0.6915:0.0:0.3085	.	220	Q8N8U3	ZCHC5_HUMAN	T	220	ENSP00000316794:A220T	ENSP00000316794:A220T	A	-	1	0	ZCCHC5	77799916	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.147000	0.16202	0.127000	0.18452	0.513000	0.50165	GCA		0.522	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694		32	154	0	0	0	1	0	32	154					T	77913260	C	T	77913260	3	4	79	1	0	0	0	0	1	0	0	0	17644	797	28	2	773	2	ZCCHC5	23	77913260	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	543610	77913260	77357300	21428	31745											
LPAR4	2846	broad.mit.edu	37	chrX	78010530	78010530	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcatcttgggtctgaTaaccaacagtgtctctctgt	8	9	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010530T>C	ENST00000435339.3	+	2	550	c.164T>C	c.(163-165)aTa>aCa	p.I55T		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	55					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGGGTCTGATAACCAACAGT	0.383																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(163-165)aTa>aCa		lysophosphatidic acid receptor 4							368	294	319					X																	78010530		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010530T>C	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.164T>C	X.37:g.78010530T>C	ENSP00000408205:p.Ile55Thr					LPAR4_ENST00000373301.2_Missense_Mutation_p.I55T	p.I55T	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	569	+			55					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.164T>C	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.315324	0.23908	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.38722	1.12;1.12	4.32	4.32	0.51571	.	0.128566	0.51477	D	0.000089	T	0.29783	0.0744	L	0.34521	1.04	0.44006	D	0.996714	P	0.38048	0.616	B	0.33454	0.164	T	0.11470	-1.0586	10	0.45353	T	0.12	.	11.575	0.50856	0.0:0.0:0.0:1.0	.	55	Q99677	LPAR4_HUMAN	T	55	ENSP00000408205:I55T;ENSP00000362398:I55T	ENSP00000362398:I55T	I	+	2	0	LPAR4	77897186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.592000	0.61027	1.609000	0.50190	0.345000	0.21793	ATA		0.383	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		27	1077	0	0	0	1	0	27	1077					C	78010530	T	C	78010530	3	2	79	1	0	0	0	0	1	0	0	0	8945	1406	49	4	166	4	LPAR4	23	78010530	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	97270	78010530	77260030	21429	31746											
LPAR4	2846	broad.mit.edu	37	chrX	78010800	78010800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggccattgtctatccttttcGatctcgtactattaggacta	7	10	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010800G>A	ENST00000435339.3	+	2	820	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463																																						ENST00000435339.2																			1	Substitution - Missense(1)	p.R145Q(1)	large_intestine(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(433-435)cGa>cAa		lysophosphatidic acid receptor 4							216	147	170					X																	78010800		2203	4300	6503	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010800G>A	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	4478	protein-coding gene	gene with protein product		300086	"G protein-coupled receptor 23"	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.434G>A	X.37:g.78010800G>A	ENSP00000408205:p.Arg145Gln					LPAR4_ENST00000373301.2_Missense_Mutation_p.R145Q	p.R145Q	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	839	+			145					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.434G>A	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725257	0.68959	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.40756	1.02;1.02	4.21	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.074980	0.56097	N	0.000035	T	0.42630	0.1211	L	0.41906	1.305	0.45354	D	0.998343	D	0.56746	0.977	P	0.52066	0.689	T	0.27157	-1.0082	10	0.52906	T	0.07	.	9.927	0.41498	0.1045:0.0:0.8955:0.0	.	145	Q99677	LPAR4_HUMAN	Q	145	ENSP00000408205:R145Q;ENSP00000362398:R145Q	ENSP00000362398:R145Q	R	+	2	0	LPAR4	77897456	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	5.028000	0.64115	0.790000	0.33803	0.422000	0.28245	CGA		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		102	358	0	0	0	1	0	102	358					A	78010800	G	A	78010800	3	1	79	1	0	0	0	0	1	0	0	0	8945	1058	37	1	436	1	LPAR4	23	78010800	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	270	78010800	77259760	21430	31747											
TBX22	50945	broad.mit.edu	37	chrX	79286360	79286360	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcagtatctacaagcacctaAttctaccaatcaaatgttat	3	10	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79286360A>G	ENST00000373294.5	+	8	1341	c.1313A>G	c.(1312-1314)aAt>aGt	p.N438S	TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000373291.1_Missense_Mutation_p.N318S|TBX22_ENST00000442340.1_Missense_Mutation_p.N318S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	438					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						CAAGCACCTAATTCTACCAAT	0.428																																						ENST00000442340.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(952-954)aAt>aGt		T-box 22							133	125	128					X																	79286360		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286360A>G	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.1313A>G	X.37:g.79286360A>G	ENSP00000362390:p.Asn438Ser					TBX22_ENST00000373291.1_Missense_Mutation_p.N318S|TBX22_ENST00000373296.3_Missense_Mutation_p.N438S|TBX22_ENST00000373294.5_Missense_Mutation_p.N438S	p.N318S	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN			9	1443	+			438					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.953A>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.381000	0.01204	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	3.99	2.81	0.32909	.	7739.210000	0.00166	N	0.000000	T	0.61578	0.2358	L	0.31664	0.95	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.49844	-0.8896	10	0.02654	T	1	.	0.9104	0.01293	0.4871:0.2026:0.1112:0.199	.	438	Q9Y458	TBX22_HUMAN	S	438;318;438;318	ENSP00000362393:N438S;ENSP00000396394:N318S;ENSP00000362390:N438S;ENSP00000362388:N318S	ENSP00000362388:N318S	N	+	2	0	TBX22	79173016	0.983000	0.35010	0.107000	0.21349	0.001000	0.01503	1.172000	0.31908	0.431000	0.26258	-0.804000	0.03201	AAT		0.428	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		166	508	0	0	0	1	0	166	508					G	79286360	A	G	79286360	3	3	79	1	0	0	0	0	1	0	0	0	15710	101	4	4	1343	4	TBX22	23	79286360	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1275560	79286360	75984200	21431	31748											
FAM46D	169966	broad.mit.edu	37	chrX	79699097	79699097	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttttatcagcctgctccGtactttgcagctgaggcaag	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79699097G>A	ENST00000308293.5	+	3	1298	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	FAM46D_ENST00000538312.1_Silent_p.P353P	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	353										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCCTGCTCCGTACTTTGCAG	0.453																																						ENST00000538312.1																			0				kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1057-1059)ccG>ccA		family with sequence similarity 46, member D							73	64	67					X																	79699097		2203	4298	6501	SO:0001819	synonymous_variant	169966							g.chrX:79699097G>A	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.1059G>A	X.37:g.79699097G>A						FAM46D_ENST00000308293.5_Silent_p.P353P	p.P353P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN			5	1393	+			353					B2R9Q6|Q7Z3F6|Q8NHU1	Silent	SNP	ENST00000308293.5	37	c.1059G>A	CCDS14446.1																																																																																				0.453	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1	NM_152630		59	204	0	0	0	1	0	59	204					A	79699097	G	A	79699097	2	1	79	1	0	0	0	0	0	0	0	1	5593	1132	40	1		1	FAM46D	23	79699097	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	412737	79699097	75571463	21432	31749											
BRWD3	254065	broad.mit.edu	37	chrX	79932615	79932615	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtctccatctacgtaAtcttgatctgttctggaagt	8	9	6	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932615A>C	ENST00000373275.4	-	41	5118	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1634					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATCTACGTAATCTTGATCTG	0.393																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4900-4902)gaT>gaG		bromodomain and WD repeat domain containing 3							235	216	222					X																	79932615		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932615A>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4902T>G	X.37:g.79932615A>C	ENSP00000362372:p.Asp1634Glu						p.D1634E	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	5118	-			1634					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4902T>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.351176	0.41700	.	.	ENSG00000165288	ENST00000373275	T	0.74209	-0.82	4.43	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	N	0.08118	0	0.30011	N	0.815203	D	0.61697	0.99	P	0.48488	0.579	T	0.55256	-0.8169	9	.	.	.	-12.3016	7.5138	0.27590	0.8194:0.0:0.1806:0.0	.	1634	Q6RI45	BRWD3_HUMAN	E	1634	ENSP00000362372:D1634E	.	D	-	3	2	BRWD3	79819271	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	4.931000	0.63469	0.575000	0.29434	-0.448000	0.05591	GAT		0.393	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		244	801	0	0	0	1	0	244	801					C	79932615	A	C	79932615	3	2	79	1	0	0	0	0	1	0	0	0	1530	98	4	4	510	4	BRWD3	23	79932615	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	233518	79932615	75337945	21433	31750											
BRWD3	254065	broad.mit.edu	37	chrX	79932771	79932771	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctcccatgttttcAtcttcttctgatgcactaag	4	13	6	1	rs369153163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932771A>C	ENST00000373275.4	-	41	4962	c.4746T>G	c.(4744-4746)gaT>gaG	p.D1582E	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1582					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ccatgttttcatcttcttctG	0.403																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(4744-4746)gaT>gaG		bromodomain and WD repeat domain containing 3							47	42	43					X																	79932771		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932771A>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4746T>G	X.37:g.79932771A>C	ENSP00000362372:p.Asp1582Glu					BRWD3_ENST00000473691.1_5'UTR	p.D1582E	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			41	4962	-			1582					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4746T>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	4.040	0.005016	0.07866	.	.	ENSG00000165288	ENST00000373275	T	0.52057	0.68	4.28	1.79	0.24919	.	0.533748	0.18881	N	0.128578	T	0.27454	0.0674	N	0.22421	0.69	0.26157	N	0.980056	B	0.11235	0.004	B	0.10450	0.005	T	0.16041	-1.0416	9	.	.	.	-7.9796	5.2779	0.15659	0.7522:0.0:0.0889:0.1589	.	1582	Q6RI45	BRWD3_HUMAN	E	1582	ENSP00000362372:D1582E	.	D	-	3	2	BRWD3	79819427	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.614000	0.24314	0.074000	0.16767	0.412000	0.27726	GAT		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		68	193	0	0	0	1	0	68	193					C	79932771	A	C	79932771	3	2	79	1	0	0	0	0	1	0	0	0	1530	214	8	4	666	4	BRWD3	23	79932771	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	156	79932771	75337789	21434	31751											
BRWD3	254065	broad.mit.edu	37	chrX	79945476	79945476	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcttcttacccaataaatcGaagtaagacatcagttacaa	5	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79945476G>A	ENST00000373275.4	-	32	3934	c.3718C>T	c.(3718-3720)Cga>Tga	p.R1240*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1240					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.R1240*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAATAAATCGAAGTAAGACA	0.299																																						ENST00000373275.4																			1	Substitution - Nonsense(1)	p.R1240*(1)	endometrium(1)	breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(3718-3720)Cga>Tga		bromodomain and WD repeat domain containing 3							83	70	74					X																	79945476		2203	4300	6503	SO:0001587	stop_gained	254065							g.chrX:79945476G>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3718C>T	X.37:g.79945476G>A	ENSP00000362372:p.Arg1240*					BRWD3_ENST00000473691.1_5'UTR	p.R1240*	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			32	3934	-			1240					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	ENST00000373275.4	37	c.3718C>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	44	11.213710	0.99531	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.44	3.55	0.40652	.	0.112392	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.701	13.0163	0.58759	0.0:0.0:0.8376:0.1624	.	.	.	.	X	1240	.	.	R	-	1	2	BRWD3	79832132	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.343000	0.79319	0.932000	0.37266	0.594000	0.82650	CGA		0.299	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		36	134	0	0	0	1	0	36	134					A	79945476	G	A	79945476	4	1	79	1	0	0	0	0	0	1	0	0	1530	1066	37	1	1730	1	BRWD3	23	79945476	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12705	79945476	75325084	21435	31752											
BRWD3	254065	broad.mit.edu	37	chrX	79979292	79979292	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaaaagcagcaaatgTccatgagaatctgtgcaggc	9	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79979292T>C	ENST00000373275.4	-	16	1821	c.1605A>G	c.(1603-1605)ggA>ggG	p.G535G	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	535					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGCAAATGTCCATGAGAAT	0.373																																						ENST00000373275.4																			0				breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						c.(1603-1605)ggA>ggG		bromodomain and WD repeat domain containing 3							93	83	86					X																	79979292		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79979292T>C		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1605A>G	X.37:g.79979292T>C							p.G535G	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN			16	1821	-			535					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.1605A>G	CCDS14447.1																																																																																				0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		61	190	0	0	0	1	0	61	190					C	79979292	T	C	79979292	2	2	79	1	0	0	0	0	0	0	0	1	1530	1654	58	4		4	BRWD3	23	79979292	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	33816	79979292	75291268	21436	31753											
CYLC1	1538	broad.mit.edu	37	chrX	83128385	83128385	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaatccaaagaaagaTttgaagaggtcaaagactag	9	5	1	6			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128385T>G	ENST00000329312.4	+	4	706	c.669T>G	c.(667-669)gaT>gaG	p.D223E		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	223					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						CAAAGAAAGATTTGAAGAGGT	0.328																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(667-669)gaT>gaG		cylicin, basic protein of sperm head cytoskeleton 1							28	26	27					X																	83128385		2195	4284	6479	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128385T>G	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.669T>G	X.37:g.83128385T>G	ENSP00000331556:p.Asp223Glu						p.D223E	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	706	+			223					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.669T>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	9.934	1.215624	0.22373	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.52754	0.65	3.21	-0.44	0.12261	.	.	.	.	.	T	0.47746	0.1462	L	0.43152	1.355	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.42413	-0.9453	9	0.06891	T	0.86	-0.0289	5.5428	0.17047	0.0:0.4965:0.0:0.5035	.	223;223	P35663;F5H4V5	CYLC1_HUMAN;.	E	223	ENSP00000331556:D223E	ENSP00000331556:D223E	D	+	3	2	CYLC1	83015041	0.067000	0.21026	0.003000	0.11579	0.010000	0.07245	-0.100000	0.10990	-0.034000	0.13713	0.417000	0.27973	GAT		0.328	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		33	109	0	0	0	1	0	33	109					G	83128385	T	G	83128385	3	3	79	1	0	0	0	0	1	0	0	0	4152	1490	52	4	683	4	CYLC1	23	83128385	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3149093	83128385	72142175	21437	31754											
CYLC1	1538	broad.mit.edu	37	chrX	83128818	83128818	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggacacaaagaagtacccaGagtctactgatactgaatca	8	9	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128818G>A	ENST00000329312.4	+	4	1139	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	368					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						gaaGTACCCAGAGTCTACTGA	0.343																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1102-1104)Gag>Aag		cylicin, basic protein of sperm head cytoskeleton 1							34	31	32					X																	83128818		2189	4291	6480	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128818G>A	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.1102G>A	X.37:g.83128818G>A	ENSP00000331556:p.Glu368Lys						p.E368K	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1139	+			368					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1102G>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	6.577	0.474736	0.12521	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.25749	1.78	4.18	2.32	0.28847	.	.	.	.	.	T	0.14356	0.0347	L	0.43923	1.385	0.09310	N	1	P;P	0.46512	0.879;0.764	B;B	0.37144	0.242;0.173	T	0.10200	-1.0640	9	0.07990	T	0.79	.	4.2204	0.10554	0.1255:0.0:0.6479:0.2266	.	368;368	P35663;F5H4V5	CYLC1_HUMAN;.	K	368	ENSP00000331556:E368K	ENSP00000331556:E368K	E	+	1	0	CYLC1	83015474	0.267000	0.24122	0.001000	0.08648	0.566000	0.35808	3.563000	0.53784	0.325000	0.23359	0.556000	0.70494	GAG		0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		6	115	0	0	0	1	0	6	115					A	83128818	G	A	83128818	3	1	79	1	0	0	0	0	1	0	0	0	4152	943	33	2	1116	2	CYLC1	23	83128818	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	433	83128818	72141742	21438	31755											
CYLC1	1538	broad.mit.edu	37	chrX	83129557	83129557	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accactccctgcttgtgagcCttctctaccatcaccaaagg	6	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83129557C>A	ENST00000329312.4	+	4	1878	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	614	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCTTGTGAGCCTTCTCTACCA	0.433																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1840-1842)cCt>cAt		cylicin, basic protein of sperm head cytoskeleton 1							72	61	65					X																	83129557		2203	4299	6502	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129557C>A	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.1841C>A	X.37:g.83129557C>A	ENSP00000331556:p.Pro614His						p.P614H	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1878	+			614			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1841C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	2.564	-0.301113	0.05495	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.68479	-0.33	3.48	1.69	0.24217	.	.	.	.	.	T	0.66117	0.2757	L	0.34521	1.04	0.09310	N	1	D;D	0.63880	0.991;0.993	D;P	0.64321	0.924;0.895	T	0.53570	-0.8420	9	0.72032	D	0.01	0.7557	3.5984	0.08014	0.2457:0.6184:0.0:0.1359	.	614;614	P35663;F5H4V5	CYLC1_HUMAN;.	H	614	ENSP00000331556:P614H	ENSP00000331556:P614H	P	+	2	0	CYLC1	83016213	0.253000	0.23982	0.178000	0.23040	0.048000	0.14542	1.052000	0.30429	0.320000	0.23234	-0.276000	0.10085	CCT		0.433	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		14	211	1	0	0.00244969	1	0.00247089	14	211					A	83129557	C	A	83129557	3	1	79	1	0	0	0	0	1	0	0	0	4152	681	24	3	1855	3	CYLC1	23	83129557	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	739	83129557	72141003	21439	31756											
HDX	139324	broad.mit.edu	37	chrX	83724000	83724000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatagttggcttttgcccaCataagttatgtaatgctggg	10	6	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724000C>T	ENST00000297977.5	-	3	842	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	HDX_ENST00000506585.2_Missense_Mutation_p.C186Y|HDX_ENST00000373177.2_Missense_Mutation_p.C244Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	244						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						CTTTTGCCCACATAAGTTATG	0.428																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(730-732)tGt>tAt		highly divergent homeobox							105	95	98					X																	83724000		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724000C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.731G>A	X.37:g.83724000C>T	ENSP00000297977:p.Cys244Tyr					HDX_ENST00000506585.2_Missense_Mutation_p.C186Y|HDX_ENST00000373177.2_Missense_Mutation_p.C244Y	p.C244Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	842	-			244					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.731G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449416	0.01080	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.46819	1.49;1.47;1.49;0.86	4.92	0.521	0.17046	.	0.497395	0.22711	N	0.056571	T	0.32436	0.0829	L	0.36672	1.1	0.21105	N	0.999789	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	10	0.52906	T	0.07	-4.1839	6.6564	0.22990	0.0:0.5189:0.1906:0.2904	.	244	Q7Z353	HDX_HUMAN	Y	244;186;244;186	ENSP00000297977:C244Y;ENSP00000362272:C186Y;ENSP00000423670:C244Y;ENSP00000387790:C186Y	ENSP00000297977:C244Y	C	-	2	0	HDX	83610656	0.967000	0.33354	0.938000	0.37757	0.539000	0.34962	0.444000	0.21661	0.133000	0.18654	-0.273000	0.10243	TGT		0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		144	463	0	0	0	1	0	144	463					T	83724000	C	T	83724000	3	4	79	1	0	0	0	0	1	0	0	0	7056	478	17	2	1373	2	HDX	23	83724000	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	594443	83724000	71546560	21440	31757											
HDX	139324	broad.mit.edu	37	chrX	83724135	83724135	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcttgtactgaagagTttccatagtttttctttgcg	9	7	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724135T>G	ENST00000297977.5	-	3	707	c.596A>C	c.(595-597)aAc>aCc	p.N199T	HDX_ENST00000506585.2_Missense_Mutation_p.N141T|HDX_ENST00000373177.2_Missense_Mutation_p.N199T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	199						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						TACTGAAGAGTTTCCATAGTT	0.388																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(595-597)aAc>aCc		highly divergent homeobox							138	123	128					X																	83724135		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724135T>G	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.596A>C	X.37:g.83724135T>G	ENSP00000297977:p.Asn199Thr					HDX_ENST00000506585.2_Missense_Mutation_p.N141T|HDX_ENST00000373177.2_Missense_Mutation_p.N199T	p.N199T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	707	-			199					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.596A>C	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.330907	0.01298	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.41400	1.55;1.6;1.55;1.0	4.9	2.82	0.32997	.	0.459886	0.24970	N	0.034148	T	0.17831	0.0428	N	0.14661	0.345	0.20873	N	0.999837	B	0.17038	0.02	B	0.14023	0.01	T	0.30563	-0.9974	10	0.05351	T	0.99	-25.6574	4.4455	0.11595	0.1664:0.6086:0.0:0.225	.	199	Q7Z353	HDX_HUMAN	T	199;141;199;141	ENSP00000297977:N199T;ENSP00000362272:N141T;ENSP00000423670:N199T;ENSP00000387790:N141T	ENSP00000297977:N199T	N	-	2	0	HDX	83610791	0.997000	0.39634	0.977000	0.42913	0.983000	0.72400	0.835000	0.27531	0.380000	0.24823	-0.502000	0.04539	AAC		0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		32	607	0	0	0	1	0	32	607					G	83724135	T	G	83724135	3	3	79	1	0	0	0	0	1	0	0	0	7056	1725	60	4	1508	4	HDX	23	83724135	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	135	83724135	71546425	21441	31758											
SATL1	340562	broad.mit.edu	37	chrX	84363222	84363222	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggttggaatctgataaactTgattggtttgcgtctggttg	13	4	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:84363222T>C	ENST00000395409.3	-	1	752	c.192A>G	c.(190-192)tcA>tcG	p.S64S	SATL1_ENST00000509231.1_Silent_p.S251S|SATL1_ENST00000332921.5_Silent_p.S64S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	64	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGATAAACTTGATTGGTTTG	0.463																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(751-753)tcA>tcG		spermidine/spermine N1-acetyl transferase-like 1							370	289	316					X																	84363222		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84363222T>C	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.192A>G	X.37:g.84363222T>C						SATL1_ENST00000395409.3_Silent_p.S64S|SATL1_ENST00000332921.5_Silent_p.S64S	p.S251S			Q86VE3	SATL1_HUMAN			1	832	-			64			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.753A>G																																																																																					0.463	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		172	613	0	0	0	1	0	172	613					C	84363222	T	C	84363222	2	2	79	1	0	0	0	0	0	0	0	1	13905	1799	63	4		4	SATL1	23	84363222	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	639087	84363222	70907338	21442	31759											
DACH2	117154	broad.mit.edu	37	chrX	85950138	85950138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccaggcattgggggtgCtccaaccctcaatccactgc	10	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85950138C>T	ENST00000373125.4	+	5	887	c.887C>T	c.(886-888)gCt>gTt	p.A296V	DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|DACH2_ENST00000510272.1_Missense_Mutation_p.A77V|DACH2_ENST00000373131.1_Missense_Mutation_p.A283V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	296					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						ATTGGGGGTGCTCCAACCCTC	0.498																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(847-849)gCt>gTt		dachshund homolog 2 (Drosophila)							63	47	53					X																	85950138		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85950138C>T	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.887C>T	X.37:g.85950138C>T	ENSP00000362217:p.Ala296Val					DACH2_ENST00000508860.1_Missense_Mutation_p.A129V|DACH2_ENST00000373125.4_Missense_Mutation_p.A296V|DACH2_ENST00000510272.1_Missense_Mutation_p.A77V	p.A283V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			4	1011	+			296					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.848C>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	c	9.268	1.045024	0.19748	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.83250	-1.7;-1.7	4.99	4.12	0.48240	.	0.399373	0.23832	N	0.044125	T	0.68220	0.2977	N	0.19112	0.55	0.25362	N	0.98878	B;P;P	0.43094	0.323;0.799;0.514	B;B;B	0.36567	0.079;0.228;0.077	T	0.57254	-0.7843	10	0.17832	T	0.49	.	12.8008	0.57584	0.0:0.918:0.0:0.082	.	162;283;296	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	V	296;283;296;129;77;129	ENSP00000362223:A283V;ENSP00000362217:A296V	ENSP00000345134:A296V	A	+	2	0	DACH2	85836794	0.999000	0.42202	0.021000	0.16686	0.004000	0.04260	3.625000	0.54238	0.885000	0.36088	0.509000	0.49947	GCT		0.498	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		19	97	0	0	0	1	0	19	97					T	85950138	C	T	85950138	3	4	79	1	0	0	0	0	1	0	0	0	4232	797	28	2	905	2	DACH2	23	85950138	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1586916	85950138	69320422	21443	31760											
DACH2	117154	broad.mit.edu	37	chrX	85969592	85969592	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgatgcctcatcccctacttCcagtcagcttacctcctgca	5	17	2	1	rs267606524		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85969592C>A	ENST00000373125.4	+	6	973	c.973C>A	c.(973-975)Cca>Aca	p.P325T	DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000510272.1_Missense_Mutation_p.P106T|DACH2_ENST00000373131.1_Missense_Mutation_p.P312T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	325					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						TCCCCTACTTCCAGTCAGCTT	0.413																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(934-936)Cca>Aca		dachshund homolog 2 (Drosophila)							193	158	170					X																	85969592		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969592C>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.973C>A	X.37:g.85969592C>A	ENSP00000362217:p.Pro325Thr					DACH2_ENST00000508860.1_Missense_Mutation_p.P158T|DACH2_ENST00000373125.4_Missense_Mutation_p.P325T|DACH2_ENST00000510272.1_Missense_Mutation_p.P106T	p.P312T	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			5	1097	+			325					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.934C>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212561	0.79240	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.85171	-1.94;-1.95	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	D	0.91314	0.7261	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.981;0.982;0.999;0.999	D	0.92218	0.5782	10	0.66056	D	0.02	.	17.5775	0.87955	0.0:1.0:0.0:0.0	.	191;325;312;325	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	T	325;312;325;158;106;158	ENSP00000362223:P312T;ENSP00000362217:P325T	ENSP00000345134:P325T	P	+	1	0	DACH2	85856248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.079000	0.62486	0.513000	0.50165	CCA		0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		166	551	1	0	2.95651e-86	1	3.79019e-86	166	551					A	85969592	C	A	85969592	3	1	79	1	0	0	0	0	1	0	0	0	4232	855	30	3	995	3	DACH2	23	85969592	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19454	85969592	69300968	21444	31761											
CPXCR1	53336	broad.mit.edu	37	chrX	88008738	88008738	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacaagcccttaaatgAtagatcaagatcccactcag	5	13	3	3	rs188296152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:88008738A>C	ENST00000276127.4	+	3	582	c.323A>C	c.(322-324)gAt>gCt	p.D108A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	108							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCTTAAATGATAGATCAAGA	0.403																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(322-324)gAt>gCt		CPX chromosome region, candidate 1							39	35	37					X																	88008738		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008738A>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.323A>C	X.37:g.88008738A>C	ENSP00000276127:p.Asp108Ala					CPXCR1_ENST00000373111.1_Missense_Mutation_p.D108A	p.D108A	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	582	+			108					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.323A>C	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109664	0.37242	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.38240	1.15;1.15	2.97	2.97	0.34412	.	0.445051	0.16599	N	0.207428	T	0.23532	0.0569	N	0.24115	0.695	0.09310	N	1	P	0.46784	0.884	B	0.43103	0.408	T	0.04664	-1.0935	9	.	.	.	-5.2427	6.8618	0.24072	1.0:0.0:0.0:0.0	.	108	Q8N123	CPXCR_HUMAN	A	108	ENSP00000276127:D108A;ENSP00000362203:D108A	.	D	+	2	0	CPXCR1	87895394	0.002000	0.14202	0.002000	0.10522	0.016000	0.09150	2.016000	0.40971	1.423000	0.47198	0.481000	0.45027	GAT		0.403	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		34	111	0	0	0	1	0	34	111					C	88008738	A	C	88008738	3	2	79	1	0	0	0	0	1	0	0	0	3845	333	12	4	325	4	CPXCR1	23	88008738	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	2039146	88008738	67261822	21445	31762											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177650	89177650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccggaatagcccagcCgaagaaaaaggtcaaggttt	11	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:89177650C>T	ENST00000561129.2	+	1	696	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	189					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						ATAGCCCAGCCGAAGAAAAAG	0.572																																						ENST00000561129.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						c.(565-567)cCg>cTg		TGFB-induced factor homeobox 2-like, X-linked							70	75	74					X																	89177650		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177650C>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.566C>T	X.37:g.89177650C>T	ENSP00000453704:p.Pro189Leu					TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P189L	p.P189L			Q8IUE1	TF2LX_HUMAN			1	696	+			189					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.566C>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	4.791	0.147126	0.09134	.	.	ENSG00000153779	ENST00000283891	T	0.61392	0.11	2.95	0.0758	0.14400	.	.	.	.	.	T	0.46054	0.1373	M	0.76574	2.34	0.09310	N	1	B	0.33238	0.403	B	0.18871	0.023	T	0.36792	-0.9733	8	.	.	.	-5.0317	2.3044	0.04170	0.244:0.457:0.0:0.2989	.	189	Q8IUE1	TF2LX_HUMAN	L	189	ENSP00000355119:P189L	.	P	+	2	0	TGIF2LX	89064306	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.009000	0.12765	-0.101000	0.12219	0.506000	0.49869	CCG		0.572	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		56	210	0	0	0	1	0	56	210					T	89177650	C	T	89177650	3	4	79	1	0	0	0	0	1	0	0	0	15879	652	23	1	568	1	TGIF2LX	23	89177650	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1168912	89177650	66092910	21446	31763											
PABPC5	140886	broad.mit.edu	37	chrX	90691094	90691094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtgcggctcaacaaccGccaggtgtatgttggcagat	14	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:90691094G>A	ENST00000312600.3	+	2	732	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	173	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTCAACAACCGCCAGGTGTAT	0.498																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(517-519)cGc>cAc		poly(A) binding protein, cytoplasmic 5							38	36	37					X																	90691094		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691094G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.518G>A	X.37:g.90691094G>A	ENSP00000308012:p.Arg173His					PABPC5_ENST00000373105.1_Missense_Mutation_p.R9H	p.R173H	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	732	+			173			RRM 2.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.518G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059164	0.55325	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.22743	1.94;2.1	4.29	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	M	0.67569	2.06	0.58432	D	0.999999	D	0.69078	0.997	P	0.50934	0.654	T	0.15235	-1.0444	10	0.66056	D	0.02	.	13.6186	0.62123	0.0:0.0:1.0:0.0	.	173	Q96DU9	PABP5_HUMAN	H	9;173;141	ENSP00000362197:R9H;ENSP00000308012:R173H	ENSP00000308012:R173H	R	+	2	0	PABPC5	90577750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.407000	0.80029	2.382000	0.81193	0.600000	0.82982	CGC		0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		74	204	0	0	0	1	0	74	204					A	90691094	G	A	90691094	3	1	79	1	0	0	0	0	1	0	0	0	11409	1087	38	1	520	1	PABPC5	23	90691094	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1513444	90691094	64579466	21447	31764											
PCDH11X	27328	broad.mit.edu	37	chrX	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccggagatgtgccactgattCgaattgaagaggatactggt	13	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(226-228)Cga>Tga		protocadherin 11 X-linked							196	163	174					X																	91090729		2203	4300	6503	SO:0001587	stop_gained	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090729C>T	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.226C>T	X.37:g.91090729C>T	ENSP00000362186:p.Arg76*					PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.R76*	p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1071	+			76			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	c.226C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283591	0.59867	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	.	.	.	4.06	2.01	0.26516	.	0.078447	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6815	0.51461	0.3941:0.6059:0.0:0.0	.	.	.	.	X	76	.	ENSP00000298274:R76X	R	+	1	2	PCDH11X	90977385	0.654000	0.27367	0.960000	0.40013	0.236000	0.25371	0.527000	0.22987	0.784000	0.33661	0.506000	0.49869	CGA		0.443	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		166	468	0	0	0	1	0	166	468					T	91090729	C	T	91090729	4	4	79	1	0	0	0	0	0	1	0	0	11550	876	31	1	228	1	PCDH11X	23	91090729	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	399635	91090729	64179831	21448	31765											
PCDH11X	27328	broad.mit.edu	37	chrX	91090959	91090959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatcaattccagagaactcGgctataaactctaaatatac	4	9	2	1	rs148082586		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090959G>A	ENST00000373094.1	+	1	1301	c.456G>A	c.(454-456)tcG>tcA	p.S152S	PCDH11X_ENST00000395337.2_Silent_p.S152S|PCDH11X_ENST00000373088.1_Silent_p.S152S|PCDH11X_ENST00000361655.2_Silent_p.S152S|PCDH11X_ENST00000361724.1_Silent_p.S152S|PCDH11X_ENST00000504220.2_Silent_p.S152S|PCDH11X_ENST00000406881.1_Silent_p.S152S|PCDH11X_ENST00000298274.8_Silent_p.S152S|PCDH11X_ENST00000373097.1_Silent_p.S152S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGAGAACTCGGCTATAAACT	0.358																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(454-456)tcG>tcA		protocadherin 11 X-linked		G	,,,,,,,	1,3794		0,1,1613,567	20	22	21		456,456,456,456,456,456,456,456	-8.9	0.3	X	dbSNP_134	21	0,6698		0,0,2420,1858	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PCDH11X	NM_001168360.1,NM_001168361.1,NM_001168362.1,NM_001168363.1,NM_014522.1,NM_032967.2,NM_032968.3,NM_032969.3	,,,,,,,	0,1,4033,2425	AA,AG,GG,G		0.0,0.0264,0.0095	,,,,,,,	152/1340,152/1066,152/1311,152/1330,152/1022,152/1026,152/1348,152/1338	91090959	1,10492	2181	4278	6459	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090959G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.456G>A	X.37:g.91090959G>A						PCDH11X_ENST00000373097.1_Silent_p.S152S|PCDH11X_ENST00000361724.1_Silent_p.S152S|PCDH11X_ENST00000298274.8_Silent_p.S152S|PCDH11X_ENST00000361655.2_Silent_p.S152S|PCDH11X_ENST00000373088.1_Silent_p.S152S|PCDH11X_ENST00000395337.2_Silent_p.S152S|PCDH11X_ENST00000406881.1_Silent_p.S152S|PCDH11X_ENST00000504220.1_Silent_p.S152S	p.S152S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1301	+			152			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.456G>A	CCDS14461.1																																																																																				0.358	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		8	258	0	0	0	1	0	8	258					A	91090959	G	A	91090959	2	1	79	1	0	0	0	0	0	0	0	1	11550	1103	39	1		1	PCDH11X	23	91090959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	230	91090959	64179601	21449	31766											
PCDH11X	27328	broad.mit.edu	37	chrX	91133466	91133466	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggagaaatgtgatgttacaGaccttggtttacacagagtg	12	5	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91133466G>A	ENST00000373094.1	+	2	3072	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	743	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATGTTACAGACCTTGGTTT	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2227-2229)Gac>Aac		protocadherin 11 X-linked							72	62	66					X																	91133466		2202	4279	6481	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133466G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2227G>A	X.37:g.91133466G>A	ENSP00000362186:p.Asp743Asn					PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D743N	p.D743N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3072	+			743			Cadherin 7.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2227G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654637	0.29425	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	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	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.62723	1.935	0.43942	D	0.9966	D;P;D;D;D;D;D;D	0.89917	1.0;0.918;1.0;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D	0.97110	0.999;0.882;0.999;0.999;0.999;1.0;0.999;0.999	T	0.69109	-0.5232	10	0.56958	D	0.05	.	16.3137	0.82906	0.0:0.0:1.0:0.0	.	743;743;743;743;743;743;743;743	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	743	ENSP00000378746:D743N;ENSP00000362186:D743N;ENSP00000362189:D743N;ENSP00000355040:D743N;ENSP00000362180:D743N;ENSP00000423762:D743N;ENSP00000355105:D743N;ENSP00000384758:D743N;ENSP00000298274:D743N	ENSP00000298274:D743N	D	+	1	0	PCDH11X	91020122	1.000000	0.71417	0.772000	0.31596	0.274000	0.26718	7.527000	0.81931	2.049000	0.60858	0.538000	0.68166	GAC		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		17	439	0	0	0	1	0	17	439					A	91133466	G	A	91133466	3	1	79	1	0	0	0	0	1	0	0	0	11550	942	33	2	2233	2	PCDH11X	23	91133466	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	42507	91133466	64137094	21450	31767											
PCDH11X	27328	broad.mit.edu	37	chrX	91873534	91873534	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgtgccacagcccaccaccGatacaggtgtctgctctcca	8	16	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91873534G>A	ENST00000373094.1	+	7	4484	c.3639G>A	c.(3637-3639)ccG>ccA	p.P1213P	PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000373097.1_Silent_p.P1203P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1213					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						GCCCACCACCGATACAGGTGT	0.597																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3637-3639)ccG>ccA		protocadherin 11 X-linked							170	135	146					X																	91873534		2203	4298	6501	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873534G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3639G>A	X.37:g.91873534G>A						PCDH11X_ENST00000373097.1_Silent_p.P1203P|PCDH11X_ENST00000298274.8_Silent_p.P1176P|PCDH11X_ENST00000361655.2_Silent_p.P1195P|PCDH11X_ENST00000373088.1_Silent_p.P1176P|PCDH11X_ENST00000406881.1_Silent_p.P1205P|PCDH11X_ENST00000504220.1_3'UTR	p.P1213P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4484	+			1213					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3639G>A	CCDS14461.1																																																																																				0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		150	487	0	0	0	1	0	150	487					A	91873534	G	A	91873534	2	1	79	1	0	0	0	0	0	0	0	1	11550	1045	37	1		1	PCDH11X	23	91873534	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	740068	91873534	63397026	21451	31768											
NAP1L3	4675	broad.mit.edu	37	chrX	92928133	92928133	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgccgctGccgctgctgctgccactagt	12	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:92928133G>T	ENST00000373079.3	-	1	434	c.171C>A	c.(169-171)ggC>ggA	p.G57G	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.G50G|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	57	Ser-rich.				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						tgctgccgctgccgctgctgc	0.617																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(169-171)ggC>ggA		nucleosome assembly protein 1-like 3							9	10	10					X																	92928133		2073	3962	6035	SO:0001819	synonymous_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928133G>T		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.171C>A	X.37:g.92928133G>T						NAP1L3_ENST00000475430.1_5'UTR	p.G57G	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	434	-			57			Ser-rich.		B2RCM0|O60788	Silent	SNP	ENST00000373079.3	37	c.171C>A	CCDS14465.1																																																																																				0.617	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		6	158	1	0	0.00116845	1	0.00118049	6	158					T	92928133	G	T	92928133	2	4	79	1	0	0	0	0	0	0	0	1	10199	1306	46	3		3	NAP1L3	23	92928133	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1054599	92928133	62342427	21452	31769											
DIAPH2	1730	broad.mit.edu	37	chrX	96603171	96603171	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctccaccatgcacaacaaCatgatgaagctctatgagaa	6	12	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96603171C>T	ENST00000324765.8	+	24	3248	c.2901C>T	c.(2899-2901)aaC>aaT	p.N967N	DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373049.4_Silent_p.N967N|DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	967	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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						TGCACAACAACATGATGAAGC	0.388																																						ENST00000324765.8																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(2899-2901)aaC>aaT		diaphanous-related formin 2							115	94	101					X																	96603171		2203	4300	6503	SO:0001819	synonymous_variant	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:96603171C>T	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.2901C>T	X.37:g.96603171C>T						DIAPH2_ENST00000373049.4_Silent_p.N967N|DIAPH2_ENST00000355827.4_Silent_p.N967N|DIAPH2_ENST00000373061.3_Silent_p.N967N|DIAPH2_ENST00000373054.4_Silent_p.N963N	p.N967N			O60879	DIAP2_HUMAN			24	3248	+			967			FH2.		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Silent	SNP	ENST00000324765.8	37	c.2901C>T	CCDS14467.1																																																																																				0.388	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		6	273	0	0	0	1	0	6	273					T	96603171	C	T	96603171	2	4	79	1	0	0	0	0	0	0	0	1	4535	477	17	2		2	DIAPH2	23	96603171	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3675038	96603171	58667389	21453	31770											
PCDH19	57526	broad.mit.edu	37	chrX	99657821	99657821	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttgcttgatttctTttgatgcccataggagtact	7	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99657821T>G	ENST00000373034.4	-	3	3992	c.2317A>C	c.(2317-2319)Aag>Cag	p.K773Q	PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	773					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						CTTGATTTCTTTTGATGCCCA	0.423																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(2317-2319)Aag>Cag		protocadherin 19							143	116	125					X																	99657821		1893	4118	6011	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657821T>G	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2317A>C	X.37:g.99657821T>G	ENSP00000362125:p.Lys773Gln					PCDH19_ENST00000420881.2_Missense_Mutation_p.K726Q|PCDH19_ENST00000255531.7_Missense_Mutation_p.K726Q	p.K773Q	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			3	3992	-			773					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2317A>C	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	t	14.05	2.419309	0.42918	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53206	0.65;0.63;0.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	L	0.36672	1.1	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.991;0.966;0.925	T	0.50338	-0.8840	10	0.12103	T	0.63	.	15.3292	0.74193	0.0:0.0:0.0:1.0	.	773;726;726	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	Q	726;773;726	ENSP00000400327:K726Q;ENSP00000362125:K773Q;ENSP00000255531:K726Q	ENSP00000255531:K726Q	K	-	1	0	PCDH19	99544477	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.721000	0.68477	2.004000	0.58718	0.478000	0.44815	AAG		0.423	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		47	188	0	0	0	1	0	47	188					G	99657821	T	G	99657821	3	3	79	1	0	0	0	0	1	0	0	0	11556	1850	64	4	1145	4	PCDH19	23	99657821	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3054650	99657821	55612739	21454	31771											
PCDH19	57526	broad.mit.edu	37	chrX	99661460	99661460	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctttacctgcagttgtaGgtccggatctctttgttgtc	11	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661460G>A	ENST00000373034.4	-	1	3811	c.2136C>T	c.(2134-2136)acC>acT	p.T712T	PCDH19_ENST00000420881.2_Silent_p.T712T|PCDH19_ENST00000255531.7_Silent_p.T712T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	712					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						TGCAGTTGTAGGTCCGGATCT	0.428																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(2134-2136)acC>acT		protocadherin 19							76	67	70					X																	99661460		1934	4120	6054	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661460G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2136C>T	X.37:g.99661460G>A						PCDH19_ENST00000420881.2_Silent_p.T712T|PCDH19_ENST00000255531.7_Silent_p.T712T	p.T712T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	3811	-			712					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.2136C>T	CCDS55462.1																																																																																				0.428	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		7	59	0	0	0	1	0	7	59					A	99661460	G	A	99661460	2	1	79	1	0	0	0	0	0	0	0	1	11556	987	35	2		2	PCDH19	23	99661460	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	3639	99661460	55609100	21455	31772											
PCDH19	57526	broad.mit.edu	37	chrX	99661672	99661672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggtcgtgagccaccaCgataagctcataggaggact	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661672C>T	ENST00000373034.4	-	1	3599	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M|PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (in EIEE9). {ECO:0000269|PubMed:22267240}.		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						TGAGCCACCACGATAAGCTCA	0.567																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1924-1926)Gtg>Atg		protocadherin 19							60	62	61					X																	99661672		2064	4196	6260	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661672C>T	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.1924G>A	X.37:g.99661672C>T	ENSP00000362125:p.Val642Met					PCDH19_ENST00000420881.2_Missense_Mutation_p.V642M|PCDH19_ENST00000255531.7_Missense_Mutation_p.V642M	p.V642M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	3599	-			642			Cadherin 6.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1924G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631431	0.67015	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.70164	-0.46;-0.46;-0.46	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88385	0.6422	H	0.95950	3.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	D	0.91786	0.5439	10	0.87932	D	0	.	19.0738	0.93151	0.0:1.0:0.0:0.0	.	642;642;642	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	M	642	ENSP00000400327:V642M;ENSP00000362125:V642M;ENSP00000255531:V642M	ENSP00000255531:V642M	V	-	1	0	PCDH19	99548328	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.454000	0.82982	0.513000	0.50165	GTG		0.567	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		63	154	0	0	0	1	0	63	154					T	99661672	C	T	99661672	3	4	79	1	0	0	0	0	1	0	0	0	11556	536	19	1	1546	1	PCDH19	23	99661672	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	212	99661672	55608888	21456	31773											
PCDH19	57526	broad.mit.edu	37	chrX	99662630	99662630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccgggatggaattgggCcccaagtccttagcctgcac	13	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99662630C>T	ENST00000373034.4	-	1	2641	c.966G>A	c.(964-966)ggG>ggA	p.G322G	PCDH19_ENST00000420881.2_Silent_p.G322G|PCDH19_ENST00000255531.7_Silent_p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGGAATTGGGCCCCAAGTCCT	0.577																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(964-966)ggG>ggA		protocadherin 19							50	56	54					X																	99662630		2188	4266	6454	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662630C>T	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.966G>A	X.37:g.99662630C>T						PCDH19_ENST00000420881.2_Silent_p.G322G|PCDH19_ENST00000255531.7_Silent_p.G322G	p.G322G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2641	-			322			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.966G>A	CCDS55462.1																																																																																				0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		65	264	0	0	0	1	0	65	264					T	99662630	C	T	99662630	2	4	79	1	0	0	0	0	0	0	0	1	11556	726	26	2		2	PCDH19	23	99662630	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	958	99662630	55607930	21457	31774											
NOX1	27035	broad.mit.edu	37	chrX	100104325	100104325	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttagaaaacccactttgcCtaattcctccatctcctgtt	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100104325C>A	ENST00000372966.3	-	11	1592	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.G426C|NOX1_ENST00000217885.5_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	463	Interaction with NOXO1.				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						CCCACTTTGCCTAATTCCTCC	0.448																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(1387-1389)Ggc>Tgc		NADPH oxidase 1							112	74	87					X																	100104325		2203	4300	6503	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100104325C>A	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.1387G>T	X.37:g.100104325C>A	ENSP00000362057:p.Gly463Cys					NOX1_ENST00000372960.4_Missense_Mutation_p.G426C|NOX1_ENST00000217885.5_Intron|NOX1_ENST00000372964.1_Intron	p.G463C	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			11	1592	-			463			Interaction with NOXO1.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1387G>T	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.78|17.78	3.474228|3.474228	0.63737|0.63737	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000372960;ENST00000372957|ENST00000427768	D;D|.	0.96232|.	-3.87;-3.95|.	4.05|4.05	4.05|4.05	0.47172|0.47172	Ferric reductase, NAD binding (1);|.	0.252743|.	0.38492|.	N|.	0.001673|.	T|T	0.76898|0.76898	0.4052|0.4052	M|M	0.83774|0.83774	2.66|2.66	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.80103|0.80103	-0.1522|-0.1522	10|5	0.38643|.	T|.	0.18|.	-8.1455|-8.1455	14.5632|14.5632	0.68156|0.68156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	426;463|.	A6NGA6;Q9Y5S8|.	.;NOX1_HUMAN|.	C|M	463;426;152|147	ENSP00000362057:G463C;ENSP00000362051:G426C|.	ENSP00000362048:G152C|.	G|R	-|-	1|2	0|0	NOX1|NOX1	99990981|99990981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	3.965000|3.965000	0.56788|0.56788	1.866000|1.866000	0.54105|0.54105	0.544000|0.544000	0.68410|0.68410	GGC|AGG		0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		56	154	1	0	1.11015e-26	1	1.28132e-26	56	154					A	100104325	C	A	100104325	3	1	79	1	0	0	0	0	1	0	0	0	10598	681	24	3	319	3	NOX1	23	100104325	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	441695	100104325	55166235	21458	31775											
NOX1	27035	broad.mit.edu	37	chrX	100117559	100117559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaatgtcacatactccaCtgtctgtgaaaggagaaatg	11	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100117559C>T	ENST00000372966.3	-	6	698	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.V128M|NOX1_ENST00000217885.5_Missense_Mutation_p.V165M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	165	Ferric oxidoreductase.				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						ACATACTCCACTGTCTGTGAA	0.473																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(493-495)Gtg>Atg		NADPH oxidase 1							210	189	196					X																	100117559		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100117559C>T	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.493G>A	X.37:g.100117559C>T	ENSP00000362057:p.Val165Met					NOX1_ENST00000372960.4_Missense_Mutation_p.V128M|NOX1_ENST00000217885.5_Missense_Mutation_p.V165M|NOX1_ENST00000372964.1_Intron	p.V165M	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			6	698	-			165			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.493G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308253	0.40895	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.96041	-3.8;-3.89;-3.89	4.62	2.63	0.31362	Flavoprotein transmembrane component (1);	0.377590	0.22478	N	0.059521	D	0.92958	0.7759	L	0.45581	1.43	0.26616	N	0.972746	B;P;P	0.41498	0.18;0.708;0.752	B;B;P	0.45913	0.09;0.364;0.497	D	0.86420	0.1754	10	0.36615	T	0.2	-6.3206	7.5402	0.27733	0.3339:0.5205:0.1456:0.0	.	128;165;165	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	M	165;165;128	ENSP00000362057:V165M;ENSP00000217885:V165M;ENSP00000362051:V128M	ENSP00000217885:V165M	V	-	1	0	NOX1	100004215	0.505000	0.26131	0.993000	0.49108	0.984000	0.73092	0.251000	0.18257	1.018000	0.39521	0.600000	0.82982	GTG		0.473	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		232	859	0	0	0	1	0	232	859					T	100117559	C	T	100117559	3	4	79	1	0	0	0	0	1	0	0	0	10598	565	20	2	1233	2	NOX1	23	100117559	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	13234	100117559	55153001	21459	31776											
DRP2	1821	broad.mit.edu	37	chrX	100503249	100503249	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactctgtgtggacatgaGcctcaattggctcctcaatg	10	12	3	1	rs6621017		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100503249G>A	ENST00000395209.3	+	13	1951	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	DRP2_ENST00000402866.1_Missense_Mutation_p.S475N|DRP2_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000541709.1_Missense_Mutation_p.S397N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	475					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						GTGGACATGAGCCTCAATTGG	0.488																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1423-1425)aGc>aAc		dystrophin related protein 2							185	154	164					X																	100503249		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100503249G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1424G>A	X.37:g.100503249G>A	ENSP00000378635:p.Ser475Asn					DRP2_ENST00000538510.1_Missense_Mutation_p.S475N|DRP2_ENST00000541709.1_Missense_Mutation_p.S397N|DRP2_ENST00000402866.1_Missense_Mutation_p.S475N	p.S475N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			13	1951	+			475					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1424G>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870939	0.51695	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.17	3.23	0.37069	EF-hand domain, type 1 (1);	0.134549	0.64402	D	0.000001	T	0.49218	0.1544	N	0.14661	0.345	0.31643	N	0.647767	B	0.33413	0.411	B	0.37731	0.257	T	0.61436	-0.7063	10	0.87932	D	0	-8.3967	14.8724	0.70468	0.0:0.5098:0.4902:0.0	rs6621017;rs52814268;rs6621017	475	Q13474	DRP2_HUMAN	N	475;475;397;475	ENSP00000385038:S475N;ENSP00000378635:S475N;ENSP00000444752:S397N;ENSP00000441051:S475N	ENSP00000378635:S475N	S	+	2	0	DRP2	100389905	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.897000	0.56273	0.942000	0.37525	0.513000	0.50165	AGC		0.488	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		192	510	0	0	0	1	0	192	510					A	100503249	G	A	100503249	3	1	79	1	0	0	0	0	1	0	0	0	4780	971	34	2	1466	2	DRP2	23	100503249	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	385690	100503249	54767311	21460	31777											
BTK	695	broad.mit.edu	37	chrX	100615114	100615114	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctgcttcagtgacataGttactaggaatgtagccttc	8	9	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100615114G>A	ENST00000308731.7	-	9	964	c.801C>T	c.(799-801)aaC>aaT	p.N267N	BTK_ENST00000372880.1_Silent_p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	267	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		Missing (in XLA; severe). {ECO:0000269|PubMed:7849721}.		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						CAGTGACATAGTTACTAGGAA	0.448									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(799-801)aaC>aaT		Bruton agammaglobulinemia tyrosine kinase							171	140	150					X																	100615114		2203	4300	6503	SO:0001819	synonymous_variant	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615114G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.801C>T	X.37:g.100615114G>A						BTK_ENST00000372880.1_Silent_p.N267N	p.N267N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			9	964	-			267		Missing (in XLA; severe).	SH3.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.801C>T	CCDS14482.1																																																																																				0.448	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		118	377	0	0	0	1	0	118	377					A	100615114	G	A	100615114	2	1	79	1	0	0	0	0	0	0	0	1	1561	1020	36	2		2	BTK	23	100615114	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	111865	100615114	54655446	21461	31778											
BTK	695	broad.mit.edu	37	chrX	100630208	100630208	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcttcttgaagtttagaGgtgatgttttctttttctgt	11	5	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100630208G>A	ENST00000308731.7	-	2	228	c.65C>T	c.(64-66)cCt>cTt	p.P22L	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	22	Inositol-(1,3,4,5)-tetrakisphosphate 1- binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						GAAGTTTAGAGGTGATGTTTT	0.443									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(64-66)cCt>cTt		Bruton agammaglobulinemia tyrosine kinase							195	171	179					X																	100630208		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630208G>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.65C>T	X.37:g.100630208G>A	ENSP00000308176:p.Pro22Leu					BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.P22L	p.P22L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	228	-			22			PH.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.65C>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387602	0.82902	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93659	-3.26;-3.26	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95909	0.8668	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	0.998;0.99;1.0	D;D;D	0.87578	0.912;0.933;0.998	D	0.95856	0.8879	10	0.51188	T	0.08	.	17.811	0.88616	0.0:0.0:1.0:0.0	.	22;22;22	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	L	22	ENSP00000361971:P22L;ENSP00000308176:P22L	ENSP00000308176:P22L	P	-	2	0	BTK	100516864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.237000	0.73441	0.600000	0.82982	CCT		0.443	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		183	541	0	0	0	1	0	183	541					A	100630208	G	A	100630208	3	1	79	1	0	0	0	0	1	0	0	0	1561	1000	35	2	1986	2	BTK	23	100630208	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	15094	100630208	54640352	21462	31779											
ARMCX6	54470	broad.mit.edu	37	chrX	100871474	100871474	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catccagctcctggtcatcgTcccactcctcttccccctcc	4	22	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100871474T>C	ENST00000361910.4	-	3	481	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ARMCX6_ENST00000539247.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron	NM_019007.3	NP_061880.2	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	46						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ctggtcatcgtcccactcctc	0.537																																						ENST00000539247.1																			0				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						c.(136-138)gAc>gGc		armadillo repeat containing, X-linked 6							92	84	87					X																	100871474		2203	4300	6503	SO:0001583	missense	54470					integral to membrane		g.chrX:100871474T>C	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.137A>G	X.37:g.100871474T>C	ENSP00000354708:p.Asp46Gly					ARMCX6_ENST00000361910.4_Missense_Mutation_p.D46G|ARMCX6_ENST00000538627.1_Missense_Mutation_p.D46G|ARMCX6_ENST00000497931.1_Intron	p.D46G	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN			4	569	-			46					Q9NWJ3	Missense_Mutation	SNP	ENST00000361910.4	37	c.137A>G	CCDS14488.1	.	.	.	.	.	.	.	.	.	.	.	7.500	0.652539	0.14580	.	.	ENSG00000198960	ENST00000361910;ENST00000539247;ENST00000538627	T;T;T	0.52295	0.67;0.67;0.67	3.71	2.55	0.30701	.	0.616408	0.13717	N	0.367662	T	0.33731	0.0873	L	0.38175	1.15	0.24072	N	0.99597	B	0.12013	0.005	B	0.08055	0.003	T	0.24941	-1.0146	10	0.52906	T	0.07	-1.718	4.934	0.13932	0.0:0.1394:0.0:0.8606	.	46	Q7L4S7	ARMX6_HUMAN	G	46	ENSP00000354708:D46G;ENSP00000444537:D46G;ENSP00000440648:D46G	ENSP00000354708:D46G	D	-	2	0	ARMCX6	100758130	0.954000	0.32549	0.643000	0.29450	0.418000	0.31294	1.764000	0.38471	0.628000	0.30357	0.385000	0.25706	GAC		0.537	ARMCX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057562.1	NM_019007		63	300	0	0	0	1	0	63	300					C	100871474	T	C	100871474	3	2	79	1	0	0	0	0	1	0	0	0	964	1667	58	4	769	4	ARMCX6	23	100871474	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	241266	100871474	54399086	21463	31780											
ARMCX2	9823	broad.mit.edu	37	chrX	100911186	100911186	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgtacacctgaagccgGccctgattttcataattctc	6	12	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911186G>A	ENST00000328766.5	-	5	1842	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	ARMCX2_ENST00000330154.2_Silent_p.G463G|ARMCX2_ENST00000356824.4_Silent_p.G463G|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	463						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTGAAGCCGGCCCTGATTTT	0.378																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1387-1389)ggC>ggT		armadillo repeat containing, X-linked 2							127	124	125					X																	100911186		2203	4300	6503	SO:0001819	synonymous_variant	9823					integral to membrane	binding	g.chrX:100911186G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1389C>T	X.37:g.100911186G>A						ARMCX2_ENST00000330154.2_Silent_p.G463G|ARMCX2_ENST00000356824.4_Silent_p.G463G	p.G463G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1842	-			463					O60267|Q5H9D9	Silent	SNP	ENST00000328766.5	37	c.1389C>T	CCDS14490.1																																																																																				0.378	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		152	497	0	0	0	1	0	152	497					A	100911186	G	A	100911186	2	1	79	1	0	0	0	0	0	0	0	1	961	1190	42	2		2	ARMCX2	23	100911186	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	39712	100911186	54359374	21464	31781											
ARMCX2	9823	broad.mit.edu	37	chrX	100911224	100911224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcactcaggttattcatggCcattaaggctttttccttaa	6	10	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911224C>T	ENST00000328766.5	-	5	1804	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T|ARMCX2_ENST00000467416.1_5'Flank	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	451						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTATTCATGGCCATTAAGGCT	0.413																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(1351-1353)Gcc>Acc		armadillo repeat containing, X-linked 2							130	122	124					X																	100911224		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911224C>T	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1351G>A	X.37:g.100911224C>T	ENSP00000331662:p.Ala451Thr					ARMCX2_ENST00000330154.2_Missense_Mutation_p.A451T|ARMCX2_ENST00000356824.4_Missense_Mutation_p.A451T	p.A451T	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1804	-			451					O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.1351G>A	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945747	0.53079	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.58060	0.36;0.36;0.36	3.87	3.87	0.44632	Armadillo-like helical (1);Armadillo-type fold (1);	0.110754	0.64402	D	0.000008	T	0.54431	0.1858	L	0.48362	1.52	0.43798	D	0.996347	P	0.46457	0.878	P	0.54210	0.745	T	0.47114	-0.9142	10	0.25106	T	0.35	-2.7442	10.2206	0.43194	0.0:1.0:0.0:0.0	.	451	Q7L311	ARMX2_HUMAN	T	451	ENSP00000331662:A451T;ENSP00000328631:A451T;ENSP00000349281:A451T	ENSP00000331662:A451T	A	-	1	0	ARMCX2	100797880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.075000	0.41538	2.167000	0.68274	0.422000	0.28245	GCC		0.413	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		139	400	0	0	0	1	0	139	400					T	100911224	C	T	100911224	3	4	79	1	0	0	0	0	1	0	0	0	961	739	26	2	551	2	ARMCX2	23	100911224	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	38	100911224	54359336	21465	31782											
ZMAT1	84460	broad.mit.edu	37	chrX	101139427	101139427	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcatctttctgaaacaAgtctttggatctagtcctct	5	11	7	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101139427A>C	ENST00000372782.3	-	7	1019	c.972T>G	c.(970-972)acT>acG	p.T324T	ZMAT1_ENST00000458570.1_Silent_p.T153T|ZMAT1_ENST00000540921.1_Silent_p.T324T|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	324						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTGAAACAAGTCTTTGGAT	0.388																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(970-972)acT>acG		zinc finger, matrin-type 1							120	111	114					X																	101139427		2203	4300	6503	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101139427A>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.972T>G	X.37:g.101139427A>C						ZMAT1_ENST00000458570.1_Silent_p.T153T|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.T324T	p.T324T	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1019	-			153					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.972T>G	CCDS35348.1																																																																																				0.388	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			174	543	0	0	0	1	0	174	543					C	101139427	A	C	101139427	2	2	79	1	0	0	0	0	0	0	0	1	17744	59	3	4		4	ZMAT1	23	101139427	Silent	SNP	A	TCGA-IB-7651-01A-11D-2154-08	228203	101139427	54131133	21466	31783											
ZMAT1	84460	broad.mit.edu	37	chrX	101141638	101141638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttccttgcatgtgggaccGgaacatatctaaagatgtaa	9	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101141638G>A	ENST00000372782.3	-	6	618	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	191						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATGTGGGACCGGAACATATCT	0.348																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(571-573)Cgg>Tgg		zinc finger, matrin-type 1							137	115	123					X																	101141638		2202	4300	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101141638G>A	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.571C>T	X.37:g.101141638G>A	ENSP00000361868:p.Arg191Trp					ZMAT1_ENST00000458570.1_Missense_Mutation_p.R20W|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.R191W	p.R191W	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			6	618	-			20					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.571C>T	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680189	0.47886	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.45668	1.86;1.86;0.89	4.94	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.360719	0.20577	N	0.089616	T	0.36220	0.0959	L	0.47716	1.5	0.36786	D	0.884615	B	0.15473	0.013	B	0.14578	0.011	T	0.40590	-0.9555	10	0.87932	D	0	-0.1043	10.11	0.42557	0.0995:0.0:0.9005:0.0	.	191	Q5H9K5	ZMAT1_HUMAN	W	191;191;20	ENSP00000361868:R191W;ENSP00000437529:R191W;ENSP00000413044:R20W	ENSP00000361868:R191W	R	-	1	2	ZMAT1	101028294	1.000000	0.71417	0.953000	0.39169	0.968000	0.65278	4.378000	0.59568	1.201000	0.43203	0.594000	0.82650	CGG		0.348	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			33	127	0	0	0	1	0	33	127					A	101141638	G	A	101141638	3	1	79	1	0	0	0	0	1	0	0	0	17744	1115	39	1	1353	1	ZMAT1	23	101141638	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2211	101141638	54128922	21467	31784											
ZMAT1	84460	broad.mit.edu	37	chrX	101152901	101152901	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccattaattgcttcaGttttttagcatggacctttc	5	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101152901G>T	ENST00000372782.3	-	5	492	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	ZMAT1_ENST00000458570.1_De_novo_Start_InFrame|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	149						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AATTGCTTCAGTTTTTTAGCA	0.413																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(445-447)Ctg>Atg		zinc finger, matrin-type 1							148	113	125					X																	101152901		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101152901G>T	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.445C>A	X.37:g.101152901G>T	ENSP00000361868:p.Leu149Met					ZMAT1_ENST00000458570.1_De_novo_Start_InFrame|ZMAT1_ENST00000540921.1_Missense_Mutation_p.L149M	p.L149M	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			5	492	-			446					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.445C>A	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	G	4.432	0.080019	0.08533	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.50813	0.73;0.73	4.59	0.583	0.17417	Zinc finger, U1-type (1);	1.020460	0.07905	N	0.973291	T	0.52533	0.1740	L	0.49256	1.55	0.20403	N	0.999909	D	0.76494	0.999	D	0.65233	0.933	T	0.37663	-0.9696	10	0.41790	T	0.15	0.002	0.3831	0.00398	0.2056:0.2103:0.272:0.3121	.	149	Q5H9K5	ZMAT1_HUMAN	M	149	ENSP00000361868:L149M;ENSP00000437529:L149M	ENSP00000361868:L149M	L	-	1	2	ZMAT1	101039557	0.441000	0.25626	0.020000	0.16555	0.163000	0.22366	0.108000	0.15396	0.084000	0.17077	0.502000	0.49764	CTG		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			111	308	1	0	1.09907e-53	1	1.37041e-53	111	308					T	101152901	G	T	101152901	3	4	79	1	0	0	0	0	1	0	0	0	17744	1020	36	3	1483	3	ZMAT1	23	101152901	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11263	101152901	54117659	21468	31785											
ARMCX5	64860	broad.mit.edu	37	chrX	101857630	101857630	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agtgtagggtcctggttctgGcctgaagaagagacctctct	13	9	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857630G>T	ENST00000604957.1	+	1	3183	c.561G>T	c.(559-561)tgG>tgT	p.W187C	ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	187										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTCTGGCCTGAAGAAG	0.458																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(559-561)tgG>tgT		armadillo repeat containing, X-linked 5							125	128	127					X																	101857630		2202	4300	6502	SO:0001583	missense	64860						binding	g.chrX:101857630G>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.561G>T	X.37:g.101857630G>T	ENSP00000474720:p.Trp187Cys					ARMCX5_ENST00000246174.2_Missense_Mutation_p.W187C|ARMCX5_ENST00000541409.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000537008.1_Missense_Mutation_p.W187C|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.W187C|ARMCX5_ENST00000372742.1_Missense_Mutation_p.W187C|RP4-769N13.6_ENST00000476910.1_RNA	p.W187C	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3183	+			187					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.561G>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327715	0.41197	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	3.59	3.59	0.41128	.	0.000000	0.39274	N	0.001411	T	0.28928	0.0718	L	0.29908	0.895	0.53688	D	0.999974	D	0.76494	0.999	P	0.61275	0.886	T	0.03423	-1.1038	10	0.56958	D	0.05	-3.0791	12.3775	0.55289	0.0:0.0:1.0:0.0	.	187	Q6P1M9	ARMX5_HUMAN	C	187	ENSP00000246174:W187C;ENSP00000439001:W187C;ENSP00000446385:W187C;ENSP00000445851:W187C;ENSP00000361827:W187C	ENSP00000246174:W187C	W	+	3	0	ARMCX5	101744286	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.695000	0.61767	2.069000	0.61940	0.600000	0.82982	TGG		0.458	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		134	476	1	0	3.83742e-62	1	4.83556e-62	134	476					T	101857630	G	T	101857630	3	4	79	1	0	0	0	0	1	0	0	0	963	1212	42	3	563	3	ARMCX5	23	101857630	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	704729	101857630	53412930	21469	31786											
ARMCX5	64860	broad.mit.edu	37	chrX	101857782	101857782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagttccagttgaaggagGggagcaatccttgcctccag	12	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857782G>A	ENST00000604957.1	+	1	3335	c.713G>A	c.(712-714)gGg>gAg	p.G238E	ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	238										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGAAGGAGGGGAGCAATCC	0.473																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(712-714)gGg>gAg		armadillo repeat containing, X-linked 5							115	104	108					X																	101857782		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857782G>A		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.713G>A	X.37:g.101857782G>A	ENSP00000474720:p.Gly238Glu					ARMCX5_ENST00000246174.2_Missense_Mutation_p.G238E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G238E|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.G238E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G238E|RP4-769N13.6_ENST00000476910.1_RNA	p.G238E	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3335	+			238					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.713G>A	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255523	0.01457	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	3.7	-0.383	0.12477	.	0.740477	0.11663	N	0.541642	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38394	-0.9663	10	0.02654	T	1	-0.414	0.6024	0.00747	0.2441:0.1952:0.3703:0.1904	.	238	Q6P1M9	ARMX5_HUMAN	E	238	ENSP00000246174:G238E;ENSP00000439001:G238E;ENSP00000446385:G238E;ENSP00000445851:G238E;ENSP00000361827:G238E	ENSP00000246174:G238E	G	+	2	0	ARMCX5	101744438	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.077000	0.11394	-0.210000	0.10140	-0.912000	0.02778	GGG		0.473	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		70	306	0	0	0	1	0	70	306					A	101857782	G	A	101857782	3	1	79	1	0	0	0	0	1	0	0	0	963	1232	43	2	715	2	ARMCX5	23	101857782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	152	101857782	53412778	21470	31787											
GPRASP1	9737	broad.mit.edu	37	chrX	101909574	101909574	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccaaactaaccaggagCtctatattgcatctagttct	7	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101909574C>T	ENST00000361600.5	+	5	1534	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	245					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						TAACCAGGAGCTCTATATTGC	0.458																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(733-735)Ctc>Ttc		G protein-coupled receptor associated sorting protein 1							148	151	150					X																	101909574		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101909574C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.733C>T	X.37:g.101909574C>T	ENSP00000355146:p.Leu245Phe					GPRASP1_ENST00000415986.1_Missense_Mutation_p.L245F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.L245F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.L245F	p.L245F	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	1546	+			245					O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.733C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	8.272	0.813492	0.16537	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	1.95	-1.3	0.09259	.	.	.	.	.	T	0.02083	0.0065	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.44421	-0.9329	9	0.10377	T	0.69	-0.3033	0.198	0.00141	0.21:0.2615:0.2073:0.3212	.	245	Q5JY77	GASP1_HUMAN	F	245	ENSP00000393691:L245F;ENSP00000409420:L245F;ENSP00000355146:L245F;ENSP00000445683:L245F	ENSP00000355146:L245F	L	+	1	0	GPRASP1	101796230	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-0.849000	0.04322	-0.523000	0.06409	0.279000	0.19357	CTC		0.458	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		184	732	0	0	0	1	0	184	732					T	101909574	C	T	101909574	3	4	79	1	0	0	0	0	1	0	0	0	6752	797	28	2	735	2	GPRASP1	23	101909574	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	51792	101909574	53360986	21471	31788											
GPRASP1	9737	broad.mit.edu	37	chrX	101912242	101912242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttagggccaaggagaGtacagagcctgagagttcat	13	8	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912242G>A	ENST00000361600.5	+	5	4202	c.3401G>A	c.(3400-3402)aGt>aAt	p.S1134N	GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000537097.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1134	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						GCCAAGGAGAGTACAGAGCCT	0.433																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3400-3402)aGt>aAt		G protein-coupled receptor associated sorting protein 1							114	102	106					X																	101912242		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912242G>A	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.3401G>A	X.37:g.101912242G>A	ENSP00000355146:p.Ser1134Asn					GPRASP1_ENST00000415986.1_Missense_Mutation_p.S1134N|GPRASP1_ENST00000444152.1_Missense_Mutation_p.S1134N|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.S1134N	p.S1134N	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4214	+			1134			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3401G>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120952	0.01785	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	2.74	0.891	0.19224	Armadillo-type fold (1);	.	.	.	.	T	0.10423	0.0255	L	0.57536	1.79	0.09310	N	1	B	0.30824	0.296	B	0.28991	0.097	T	0.26643	-1.0097	9	0.52906	T	0.07	-6.343	4.4784	0.11755	0.3479:0.0:0.6521:0.0	.	1134	Q5JY77	GASP1_HUMAN	N	1134	ENSP00000393691:S1134N;ENSP00000409420:S1134N;ENSP00000355146:S1134N;ENSP00000445683:S1134N	ENSP00000355146:S1134N	S	+	2	0	GPRASP1	101798898	0.344000	0.24827	0.266000	0.24541	0.127000	0.20565	0.916000	0.28651	0.116000	0.18110	0.284000	0.19432	AGT		0.433	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		117	428	0	0	0	1	0	117	428					A	101912242	G	A	101912242	3	1	79	1	0	0	0	0	1	0	0	0	6752	1029	36	2	3403	2	GPRASP1	23	101912242	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2668	101912242	53358318	21472	31789											
GPRASP1	9737	broad.mit.edu	37	chrX	101912585	101912585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaacccttgcttatagCgtggattccccggaacagct	11	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912585C>T	ENST00000361600.5	+	5	4545	c.3744C>T	c.(3742-3744)agC>agT	p.S1248S	GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000537097.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.S1248S	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1248	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.S1248_D1250delSVD(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTATAGCGTGGATTCCC	0.408																																						ENST00000537097.1																			1	Deletion - In frame(1)	p.S1248_D1250delSVD(1)	prostate(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3742-3744)agC>agT		G protein-coupled receptor associated sorting protein 1							98	86	90					X																	101912585		2203	4300	6503	SO:0001819	synonymous_variant	9737					cytoplasm	protein binding	g.chrX:101912585C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3744C>T	X.37:g.101912585C>T						GPRASP1_ENST00000415986.1_Silent_p.S1248S|GPRASP1_ENST00000444152.1_Silent_p.S1248S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.S1248S	p.S1248S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4557	+			1248			OPRD1-binding.		O43168|Q96LA1	Silent	SNP	ENST00000361600.5	37	c.3744C>T	CCDS35352.1																																																																																				0.408	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		17	509	0	0	0	1	0	17	509					T	101912585	C	T	101912585	2	4	79	1	0	0	0	0	0	0	0	1	6752	767	27	1		1	GPRASP1	23	101912585	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	343	101912585	53357975	21473	31790											
GPRASP2	114928	broad.mit.edu	37	chrX	101969867	101969867	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctggggaagaggttatcGctgggcctgagagagagaat	18	5	0	4	rs374391200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101969867G>A	ENST00000535209.1	+	4	901	c.70G>A	c.(70-72)Gct>Act	p.A24T	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A24T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	24						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						AGAGGTTATCGCTGGGCCTGA	0.522																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(70-72)Gct>Act		G protein-coupled receptor associated sorting protein 2		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,3834		0,1,1631,571	114	108	110		70,70,70,70,70,70	-1.4	0	X		110	0,6728		0,0,2428,1872	no	missense,missense,missense,missense,missense,missense	GPRASP2,ARMCX5-GPRASP2	NM_001004051.3,NM_001184874.2,NM_001184875.2,NM_001184876.2,NM_001199818.1,NM_138437.5	58,58,58,58,58,58	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign,benign,benign,benign,benign,benign	24/839,24/839,24/839,24/839,24/839,24/839	101969867	1,10562	2203	4300	6503	SO:0001583	missense	114928							g.chrX:101969867G>A	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.70G>A	X.37:g.101969867G>A	ENSP00000437394:p.Ala24Thr					GPRASP2_ENST00000332262.5_Missense_Mutation_p.A24T|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A24T	p.A24T	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	989	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.70G>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	2.792	-0.251175	0.05867	2.61E-4	0.0	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07021	3.23;3.23;3.23	2.95	-1.43	0.08884	.	1.467860	0.04411	N	0.366081	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40869	-0.9540	10	0.21014	T	0.42	.	3.8041	0.08770	0.3948:0.1847:0.4205:0.0	.	24	Q96D09	GASP2_HUMAN	T	24	ENSP00000437872:A24T;ENSP00000437394:A24T;ENSP00000339057:A24T	ENSP00000339057:A24T	A	+	1	0	GPRASP2	101856523	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.639000	0.24690	-0.757000	0.04697	-0.478000	0.04885	GCT		0.522	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		156	483	0	0	0	1	0	156	483					A	101969867	G	A	101969867	3	1	79	1	0	0	0	0	1	0	0	0	6753	1087	38	1	72	1	GPRASP2	23	101969867	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	57282	101969867	53300693	21474	31791											
GPRASP2	114928	broad.mit.edu	37	chrX	101970438	101970438	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctattccaggcccagggCcagagaggaggcctctaatg	14	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970438C>T	ENST00000535209.1	+	4	1472	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A214V			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	214						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						AGGCCCAGGGCCAGAGAGGAG	0.542																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(640-642)gCc>gTc		G protein-coupled receptor associated sorting protein 2							100	109	106					X																	101970438		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970438C>T	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.641C>T	X.37:g.101970438C>T	ENSP00000437394:p.Ala214Val					GPRASP2_ENST00000332262.5_Missense_Mutation_p.A214V|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A214V	p.A214V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	1560	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.641C>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	9.431	1.085611	0.20390	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07114	3.22;3.22;3.22	5.05	3.25	0.37280	.	0.306114	0.23861	N	0.043841	T	0.05318	0.0141	N	0.20530	0.585	0.32385	N	0.55402	B	0.21905	0.062	B	0.19391	0.025	T	0.22452	-1.0216	10	0.25751	T	0.34	.	8.2111	0.31483	0.0:0.7519:0.1559:0.0922	.	214	Q96D09	GASP2_HUMAN	V	214	ENSP00000437872:A214V;ENSP00000437394:A214V;ENSP00000339057:A214V	ENSP00000339057:A214V	A	+	2	0	GPRASP2	101857094	0.678000	0.27586	0.396000	0.26296	0.002000	0.02628	1.146000	0.31589	0.590000	0.29694	-0.218000	0.12543	GCC		0.542	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		193	672	0	0	0	1	0	193	672					T	101970438	C	T	101970438	3	4	79	1	0	0	0	0	1	0	0	0	6753	739	26	2	643	2	GPRASP2	23	101970438	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	571	101970438	53300122	21475	31792											
GPRASP2	114928	broad.mit.edu	37	chrX	101970883	101970883	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagatcctaatactgccttGaaactcagggcccagaaaga	9	10	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970883G>T	ENST00000535209.1	+	4	1917	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F|GPRASP2_ENST00000543253.1_Missense_Mutation_p.L362F			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	362						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						ATACTGCCTTGAAACTCAGGG	0.458																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1084-1086)ttG>ttT		G protein-coupled receptor associated sorting protein 2							86	80	82					X																	101970883		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101970883G>T	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.1086G>T	X.37:g.101970883G>T	ENSP00000437394:p.Leu362Phe					GPRASP2_ENST00000332262.5_Missense_Mutation_p.L362F|GPRASP2_ENST00000535209.1_Missense_Mutation_p.L362F	p.L362F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2005	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1086G>T	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238499	0.01493	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08102	3.13;3.13;3.13	4.2	3.34	0.38264	.	0.214477	0.23748	N	0.044960	T	0.08714	0.0216	L	0.51422	1.61	0.09310	N	1	P	0.40875	0.731	B	0.39840	0.311	T	0.20338	-1.0278	10	0.26408	T	0.33	.	9.3161	0.37934	0.1092:0.0:0.8908:0.0	.	362	Q96D09	GASP2_HUMAN	F	362	ENSP00000437872:L362F;ENSP00000437394:L362F;ENSP00000339057:L362F	ENSP00000339057:L362F	L	+	3	2	GPRASP2	101857539	0.282000	0.24268	0.236000	0.24074	0.014000	0.08584	0.221000	0.17680	1.135000	0.42183	0.600000	0.82982	TTG		0.458	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		94	362	1	0	7.79919e-48	1	9.60998e-48	94	362					T	101970883	G	T	101970883	3	4	79	1	0	0	0	0	1	0	0	0	6753	1281	45	3	1088	3	GPRASP2	23	101970883	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	445	101970883	53299677	21476	31793											
GLRA4	441509	broad.mit.edu	37	chrX	102974199	102974199	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcgatgcaggtgaatttcCctgcaaggagagaggtgagg	15	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:102974199C>A	ENST00000372617.4	-	7	1139	c.719G>T	c.(718-720)gGg>gTg	p.G240V	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	240						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGTGAATTTCCCTGCAAGGAG	0.552																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.e7-1		glycine receptor, alpha 4							79	81	81					X																	102974199		2195	4288	6483	SO:0001630	splice_region_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974199C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"Ligand-gated ion channels / Glycine receptors"	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.719-1G>T	X.37:g.102974199C>A							p.G240_splice	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			7	1139	-			240						Splice_Site	SNP	ENST00000372617.4	37	c.718_splice	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252104	0.80135	.	.	ENSG00000188828	ENST00000372617	T	0.81163	-1.46	5.29	5.29	0.74685	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94951	0.8100	10	0.87932	D	0	.	15.6	0.76616	0.0:1.0:0.0:0.0	.	240;199	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	V	240	ENSP00000361700:G240V	ENSP00000361700:G240V	G	-	2	0	GLRA4	102860855	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.818000	0.86416	2.366000	0.80165	0.600000	0.82982	GGG		0.552	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452	Missense_Mutation	18	445	1	0	5.01169e-05	1	5.1097e-05	18	445					A	102974199	C	A	102974199	5	1	79	1	0	0	0	0	0	0	1	0	6486	637	22	3	641	3	GLRA4	23	102974199	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1003316	102974199	52296361	21477	31794											
ESX1	80712	broad.mit.edu	37	chrX	103499510	103499510	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagccaatatcactgtgggtGtacccgcgaagagactccat	10	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103499510G>A	ENST00000372588.4	-	1	104	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	7					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						CACTGTGGGTGTACCCGCGAA	0.587																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(19-21)taC>taT		ESX homeobox 1							172	142	152					X																	103499510		2203	4300	6503	SO:0001819	synonymous_variant	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499510G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.21C>T	X.37:g.103499510G>A							p.Y7Y	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			1	104	-			7					B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	c.21C>T	CCDS14516.1																																																																																				0.587	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		241	805	0	0	0	1	0	241	805					A	103499510	G	A	103499510	2	1	79	1	0	0	0	0	0	0	0	1	5281	1372	48	2		2	ESX1	23	103499510	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	525311	103499510	51771050	21478	31795											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104440202	104440202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatctcaagacatacatggCtttggcaggtgaaccagtcc	11	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104440202C>T	ENST00000372582.1	+	3	884	c.128C>T	c.(127-129)gCt>gTt	p.A43V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	43	Ig-like C2-type 1.				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						ACATACATGGCTTTGGCAGGT	0.458																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(127-129)gCt>gTt		interleukin 1 receptor accessory protein-like 2							179	142	155					X																	104440202		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104440202C>T	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.128C>T	X.37:g.104440202C>T	ENSP00000361663:p.Ala43Val					IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A43V	p.A43V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			3	884	+			43			Ig-like C2-type 1.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.128C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.242091	0.10077	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.73789	-0.78;-0.78	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000030	T	0.37156	0.0993	N	0.00332	-1.63	0.80722	D	1	B	0.14012	0.009	B	0.17722	0.019	T	0.53781	-0.8390	10	0.02654	T	1	.	13.2374	0.59976	0.0:0.8453:0.1547:0.0	.	43	Q9NP60	IRPL2_HUMAN	V	43	ENSP00000361663:A43V;ENSP00000344976:A43V	ENSP00000344976:A43V	A	+	2	0	IL1RAPL2	104326858	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.439000	0.59968	2.350000	0.79820	0.600000	0.82982	GCT		0.458	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		47	372	0	0	0	1	0	47	372					T	104440202	C	T	104440202	3	4	79	1	0	0	0	0	1	0	0	0	7692	797	28	2	134	2	IL1RAPL2	23	104440202	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	940692	104440202	50830358	21479	31796											
TEX13A	56157	broad.mit.edu	37	chrX	104464070	104464070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagatgtggctgtttcgaccGaccggagatctccctccttc	10	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464070G>A	ENST00000413579.1	-	5	917	c.806C>T	c.(805-807)tCg>tTg	p.S269L	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W|TEX13A_ENST00000372578.3_Missense_Mutation_p.R270W|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	269							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTTTCGACCGACCGGAGATC	0.537																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(808-810)Cgg>Tgg		testis expressed 13A							87	88	87					X																	104464070		2078	4208	6286	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464070G>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.806C>T	X.37:g.104464070G>A	ENSP00000399753:p.Ser269Leu					TEX13A_ENST00000413579.1_Missense_Mutation_p.S269L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R270W	p.R270W	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	919	-			0					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.808C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.22|15.22	2.768797|2.768797	0.49680|0.49680	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.45|3.45	3.45|3.45	0.39498|0.39498	.|.	.|0.294550	.|0.18682	.|N	.|0.134132	T|T	0.48095|0.48095	0.1481|0.1481	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.53035	.|0.716	T|T	0.35051|0.35051	-0.9804|-0.9804	6|9	0.87932|0.54805	D|T	0|0.06	.|.	9.4612|9.4612	0.38785|0.38785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|269	.|Q9BXU3	.|TX13A_HUMAN	W|L	270|269	.|.	ENSP00000361656:R270W|ENSP00000399753:S269L	R|S	-|-	1|2	2|0	TEX13A|TEX13A	104350726|104350726	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.001000|0.001000	0.01503|0.01503	1.334000|1.334000	0.33827|0.33827	1.976000|1.976000	0.57569|0.57569	0.513000|0.513000	0.50165|0.50165	CGG|TCG		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		9	250	0	0	0	1	0	9	250					A	104464070	G	A	104464070	3	1	79	1	0	0	0	0	1	0	0	0	15828	1057	37	1	427	1	TEX13A	23	104464070	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	23868	104464070	50806490	21480	31797											
TEX13A	56157	broad.mit.edu	37	chrX	104464394	104464394	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacccctccggcagtggccaGgcctggccaccctgccccct	10	21	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464394G>T	ENST00000413579.1	-	3	595	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M|TEX13A_ENST00000372578.3_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	162							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCAGTGGCCAGGCCTGGCCAC	0.652																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(484-486)Ctg>Atg		testis expressed 13A							20	23	22					X																	104464394		2049	4071	6120	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464394G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.484C>A	X.37:g.104464394G>T	ENSP00000399753:p.Leu162Met					TEX13A_ENST00000413579.1_Missense_Mutation_p.L162M|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L162M	p.L162M	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			3	595	-			162					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.484C>A		.	.	.	.	.	.	.	.	.	.	G	10.95	1.495161	0.26774	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	2.65	0.636	0.17729	.	1.458410	0.05184	N	0.501986	T	0.59376	0.2189	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.70487	0.969;0.969	T	0.42155	-0.9468	8	0.51188	T	0.08	.	7.7274	0.28767	0.0:0.5363:0.4637:0.0	.	162;162	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	162	.	ENSP00000361656:L162M	L	-	1	2	TEX13A	104351050	0.000000	0.05858	0.007000	0.13788	0.030000	0.12068	-0.664000	0.05292	0.056000	0.16144	0.422000	0.28245	CTG		0.652	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	264	1	0	2.0095e-06	1	2.07161e-06	6	264					T	104464394	G	T	104464394	3	4	79	1	0	0	0	0	1	0	0	0	15828	991	35	3	751	3	TEX13A	23	104464394	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	324	104464394	50806166	21481	31798											
TEX13A	56157	broad.mit.edu	37	chrX	104464816	104464816	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agccgtgcagccaccgcaccCtgtgcctttgtagctgtgcc	11	16	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464816C>A	ENST00000413579.1	-	2	377	c.266G>T	c.(265-267)aGg>aTg	p.R89M	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M|TEX13A_ENST00000372578.3_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	89							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCACCGCACCCTGTGCCTTTG	0.632																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(265-267)aGg>aTg		testis expressed 13A							32	32	32					X																	104464816		2203	4292	6495	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464816C>A	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.266G>T	X.37:g.104464816C>A	ENSP00000399753:p.Arg89Met					TEX13A_ENST00000413579.1_Missense_Mutation_p.R89M|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.R89M	p.R89M	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	377	-			89					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.266G>T		.	.	.	.	.	.	.	.	.	.	C	10.74	1.436760	0.25900	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	2.24	0.28232	.	0.000000	0.33916	N	0.004425	T	0.61837	0.2379	.	.	.	0.58432	D	0.99999	D;D	0.62365	0.991;0.991	P;P	0.55785	0.784;0.784	T	0.60146	-0.7320	8	0.49607	T	0.09	.	5.6601	0.17664	0.0:0.8436:0.0:0.1564	.	89;89	C9JWK0;Q9BXU3	.;TX13A_HUMAN	M	89	.	ENSP00000361656:R89M	R	-	2	0	TEX13A	104351472	0.422000	0.25473	0.805000	0.32314	0.014000	0.08584	0.801000	0.27055	0.716000	0.32124	-0.315000	0.08773	AGG		0.632	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	209	1	0	0.00116845	1	0.00118049	6	209					A	104464816	C	A	104464816	3	1	79	1	0	0	0	0	1	0	0	0	15828	681	24	3	973	3	TEX13A	23	104464816	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	422	104464816	50805744	21482	31799											
TEX13A	56157	broad.mit.edu	37	chrX	104464827	104464827	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgcaccctgtgcctttgTagctgtgcctgcctgtgggc	12	15	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464827T>C	ENST00000413579.1	-	2	366	c.255A>G	c.(253-255)ctA>ctG	p.L85L	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.L85L|TEX13A_ENST00000372578.3_Silent_p.L85L|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	85							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTGCCTTTGTAGCTGTGCCT	0.627																																						ENST00000372578.3																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(253-255)ctA>ctG		testis expressed 13A							33	33	33					X																	104464827		2203	4293	6496	SO:0001819	synonymous_variant	56157					intracellular	zinc ion binding	g.chrX:104464827T>C	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.255A>G	X.37:g.104464827T>C						TEX13A_ENST00000413579.1_Silent_p.L85L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.L85L	p.L85L	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN			2	366	-			85					B1B1G8|Q32NB6	Silent	SNP	ENST00000413579.1	37	c.255A>G																																																																																					0.627	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		62	161	0	0	0	1	0	62	161					C	104464827	T	C	104464827	2	2	79	1	0	0	0	0	0	0	0	1	15828	1625	57	4		4	TEX13A	23	104464827	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11	104464827	50805733	21483	31800											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999178	104999178	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttatgtttaagacaacaaGgaatatgatgcctatctctc	6	8	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104999178G>T	ENST00000372582.1	+	10	1956	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	400	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGACAACAAGGAATATGATG	0.383																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1198-1200)aaG>aaT		interleukin 1 receptor accessory protein-like 2							99	90	93					X																	104999178		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104999178G>T	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.1200G>T	X.37:g.104999178G>T	ENSP00000361663:p.Lys400Asn					IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.K5N|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K400N	p.K400N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			10	1956	+			400			TIR.		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1200G>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954421	0.53293	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.02787	4.16;4.16;4.16	5.62	2.57	0.30868	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.64402	D	0.000004	T	0.16599	0.0399	M	0.91972	3.26	0.53005	D	0.999968	D	0.76494	0.999	D	0.80764	0.994	T	0.00087	-1.2092	10	0.87932	D	0	.	8.5678	0.33550	0.4625:0.0:0.5375:0.0	.	400	Q9NP60	IRPL2_HUMAN	N	400;400;5	ENSP00000361663:K400N;ENSP00000344976:K400N;ENSP00000445576:K5N	ENSP00000344976:K400N	K	+	3	2	IL1RAPL2	104885834	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	0.455000	0.21843	0.067000	0.16545	0.600000	0.82982	AAG		0.383	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		80	269	1	0	7.31121e-38	1	8.79105e-38	80	269					T	104999178	G	T	104999178	3	4	79	1	0	0	0	0	1	0	0	0	7692	991	35	3	1234	3	IL1RAPL2	23	104999178	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	534351	104999178	50271382	21484	31801											
NRK	203447	broad.mit.edu	37	chrX	105179162	105179162	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttccccttacatctttgcagTatacgctggattcgtagaag	8	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105179162T>C	ENST00000243300.9	+	21	3803	c.3500T>C	c.(3499-3501)tTa>tCa	p.L1167S	NRK_ENST00000428173.2_Splice_Site_p.L1168S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1167					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						ATCTTTGCAGTATACGCTGGA	0.388										HNSCC(51;0.14)																												ENST00000428173.2																			0				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						c.e21-1		Nik related kinase							160	141	147					X																	105179162		1877	4089	5966	SO:0001630	splice_region_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105179162T>C	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.3500-1T>C	X.37:g.105179162T>C		HNSCC(51;0.14)				NRK_ENST00000243300.9_Splice_Site_p.L1167_splice	p.L1168_splice			Q7Z2Y5	NRK_HUMAN			21	3806	+			1167					Q32ND6|Q5H9K2|Q6ZMP2	Splice_Site	SNP	ENST00000243300.9	37	c.3502_splice		.	.	.	.	.	.	.	.	.	.	T	5.042	0.193493	0.09599	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79554	-1.27;-1.28	4.78	2.34	0.29019	.	1.495940	0.04486	N	0.378660	T	0.63010	0.2475	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.27882	0.06;0.192	B;B	0.18561	0.019;0.022	T	0.52741	-0.8535	9	.	.	.	.	1.8464	0.03160	0.28:0.1695:0.0:0.5505	.	835;1167	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	S	1167;1168	ENSP00000434830:L1167S;ENSP00000438378:L1168S	.	L	+	2	0	NRK	105065818	1.000000	0.71417	0.747000	0.31113	0.136000	0.21042	0.991000	0.29654	0.813000	0.34350	0.486000	0.48141	TTA		0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	Missense_Mutation	6	307	0	0	0	1	0	6	307					C	105179162	T	C	105179162	5	2	79	1	0	0	0	0	0	0	1	0	10697	1652	57	4	3582	4	NRK	23	105179162	Splice_Site	SNP	T	TCGA-IB-7651-01A-11D-2154-08	179984	105179162	50091398	21485	31802											
NRK	203447	broad.mit.edu	37	chrX	105187998	105187998	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caattcacctttatgcatggGcaccaaagtcctttgatgaa	7	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105187998G>A	ENST00000243300.9	+	24	4327	c.4024G>A	c.(4024-4026)Gca>Aca	p.A1342T	NRK_ENST00000428173.2_Missense_Mutation_p.A1343T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1342	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATGCATGGGCACCAAAGTC	0.318										HNSCC(51;0.14)																												ENST00000428173.2																			0				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						c.(4027-4029)Gca>Aca		Nik related kinase							120	98	105					X																	105187998		1847	4087	5934	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105187998G>A	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.4024G>A	X.37:g.105187998G>A	ENSP00000434830:p.Ala1342Thr	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.A1342T	p.A1343T			Q7Z2Y5	NRK_HUMAN			24	4330	+			1342			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4027G>A		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104157	0.56291	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04970	3.52;3.52	5.44	4.57	0.56435	Citron-like (2);	0.139426	0.33477	N	0.004877	T	0.11879	0.0289	M	0.71871	2.18	0.80722	D	1	B	0.31769	0.339	B	0.36030	0.216	T	0.01298	-1.1392	10	0.87932	D	0	.	12.2853	0.54789	0.0835:0.0:0.9165:0.0	.	1342	Q7Z2Y5	NRK_HUMAN	T	1342;1343	ENSP00000434830:A1342T;ENSP00000438378:A1343T	ENSP00000434830:A1342T	A	+	1	0	NRK	105074654	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.112000	0.64634	1.060000	0.40578	0.594000	0.82650	GCA		0.318	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		14	26	0	0	0	1	0	14	26					A	105187998	G	A	105187998	3	1	79	1	0	0	0	0	1	0	0	0	10697	1203	42	2	4118	2	NRK	23	105187998	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	8836	105187998	50082562	21486	31803											
NRK	203447	broad.mit.edu	37	chrX	105189929	105189929	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatcaagcctatatacgaatActggcaaaaatacaggcagc	7	9	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105189929A>G	ENST00000243300.9	+	25	4428	c.4125A>G	c.(4123-4125)atA>atG	p.I1375M	NRK_ENST00000540278.1_5'Flank|NRK_ENST00000428173.2_Missense_Mutation_p.I1376M	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1375	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATATACGAATACTGGCAAAAA	0.443										HNSCC(51;0.14)																												ENST00000428173.2																			0				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						c.(4126-4128)atA>atG		Nik related kinase							101	88	92					X																	105189929		1880	4113	5993	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105189929A>G	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.4125A>G	X.37:g.105189929A>G	ENSP00000434830:p.Ile1375Met	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.I1375M	p.I1376M			Q7Z2Y5	NRK_HUMAN			25	4431	+			1375			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.4128A>G		.	.	.	.	.	.	.	.	.	.	A	15.06	2.721956	0.48728	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79141	-1.23;-1.24	4.33	3.14	0.36123	Citron-like (2);	0.000000	0.56097	D	0.000036	T	0.72309	0.3444	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72940	-0.4139	10	0.72032	D	0.01	.	6.1494	0.20303	0.7716:0.0:0.0:0.2284	.	1375	Q7Z2Y5	NRK_HUMAN	M	1375;1376	ENSP00000434830:I1375M;ENSP00000438378:I1376M	ENSP00000434830:I1375M	I	+	3	3	NRK	105076585	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.184000	0.42575	0.749000	0.32854	0.486000	0.48141	ATA		0.443	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		41	117	0	0	0	1	0	41	117					G	105189929	A	G	105189929	3	3	79	1	0	0	0	0	1	0	0	0	10697	381	14	4	4223	4	NRK	23	105189929	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1931	105189929	50080631	21487	31804											
SERPINA7	6906	broad.mit.edu	37	chrX	105279214	105279214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagtgccagagcattcttgCtgtagtccatttgcagaact	10	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105279214C>T	ENST00000327674.4	-	2	1120	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	262					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGCATTCTTGCTGTAGTCCAT	0.463																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(784-786)aGc>aAc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						221	179	193					X																	105279214		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105279214C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.785G>A	X.37:g.105279214C>T	ENSP00000329374:p.Ser262Asn					SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.S262N	p.S262N			P05543	THBG_HUMAN			2	1120	-			262					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.785G>A	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134247	0.01742	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.83992	-1.79;-1.79	4.63	-0.624	0.11552	Serpin domain (3);	0.446758	0.22838	N	0.055014	T	0.72162	0.3426	L	0.55103	1.725	0.19775	N	0.999957	B	0.06786	0.001	B	0.11329	0.006	T	0.54002	-0.8358	10	0.18276	T	0.48	.	5.4022	0.16303	0.0:0.2925:0.4333:0.2742	.	262	P05543	THBG_HUMAN	N	262	ENSP00000329374:S262N;ENSP00000361644:S262N	ENSP00000329374:S262N	S	-	2	0	SERPINA7	105165870	0.003000	0.15002	0.008000	0.14137	0.029000	0.11900	-0.139000	0.10358	-0.399000	0.07668	-1.008000	0.02478	AGC		0.463	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		163	553	0	0	0	1	0	163	553					T	105279214	C	T	105279214	3	4	79	1	0	0	0	0	1	0	0	0	14144	797	28	2	474	2	SERPINA7	23	105279214	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	89285	105279214	49991346	21488	31805											
SERPINA7	6906	broad.mit.edu	37	chrX	105280503	105280503	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattagacccacaactttccCtttggtttgcatctccacat	4	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280503C>A	ENST00000327674.4	-	1	882	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	183					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	ACAACTTTCCCTTTGGTTTGC	0.408																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(547-549)Ggg>Tgg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						168	148	155					X																	105280503		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280503C>A	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.547G>T	X.37:g.105280503C>A	ENSP00000329374:p.Gly183Trp					SERPINA7_ENST00000372563.1_Missense_Mutation_p.G183W	p.G183W			P05543	THBG_HUMAN			1	882	-			183					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.547G>T	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396056	0.25205	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.91295	-2.82;-2.82	4.7	1.97	0.26223	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.96445	0.8840	H	0.98005	4.125	0.37093	D	0.899548	D	0.89917	1.0	D	0.97110	1.0	D	0.95310	0.8411	10	0.87932	D	0	.	8.2327	0.31608	0.0:0.7401:0.0:0.2599	.	183	P05543	THBG_HUMAN	W	183	ENSP00000329374:G183W;ENSP00000361644:G183W	ENSP00000329374:G183W	G	-	1	0	SERPINA7	105167159	1.000000	0.71417	0.873000	0.34254	0.082000	0.17680	5.491000	0.66887	0.171000	0.19730	0.594000	0.82650	GGG		0.408	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		186	531	1	0	4.74923e-77	1	6.06313e-77	186	531					A	105280503	C	A	105280503	3	1	79	1	0	0	0	0	1	0	0	0	14144	681	24	3	716	3	SERPINA7	23	105280503	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1289	105280503	49990057	21489	31806											
SERPINA7	6906	broad.mit.edu	37	chrX	105280711	105280711	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgaacagatcagatgCtggaagccatgctggatctc	11	9	3	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280711C>T	ENST00000327674.4	-	1	674	c.339G>A	c.(337-339)caG>caA	p.Q113Q	SERPINA7_ENST00000372563.1_Silent_p.Q113Q|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	113					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGATCAGATGCTGGAAGCCAT	0.478																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(337-339)caG>caA		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						98	95	96					X																	105280711		2203	4300	6503	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280711C>T	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.339G>A	X.37:g.105280711C>T						SERPINA7_ENST00000372563.1_Silent_p.Q113Q	p.Q113Q			P05543	THBG_HUMAN			1	674	-			113					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.339G>A	CCDS14518.1																																																																																				0.478	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		129	414	0	0	0	1	0	129	414					T	105280711	C	T	105280711	2	4	79	1	0	0	0	0	0	0	0	1	14144	796	28	2		2	SERPINA7	23	105280711	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	208	105280711	49989849	21490	31807											
RNF128	79589	broad.mit.edu	37	chrX	106016155	106016155	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttttacaggtgcagtagacaTtgttgcaatcatgatcggca	10	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016155T>G	ENST00000255499.2	+	2	747	c.497T>G	c.(496-498)aTt>aGt	p.I166S	RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	166	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCAGTAGACATTGTTGCAATC	0.328																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(496-498)aTt>aGt		ring finger protein 128, E3 ubiquitin protein ligase							111	93	99					X																	106016155		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016155T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.497T>G	X.37:g.106016155T>G	ENSP00000255499:p.Ile166Ser					RNF128_ENST00000324342.3_Missense_Mutation_p.I140S	p.I166S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	747	+			166			PA.		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.497T>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407574	0.62399	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.10960	2.82;2.82;2.82	5.65	5.65	0.86999	Protease-associated domain, PA (1);	0.284101	0.37219	N	0.002198	T	0.31857	0.0810	M	0.80422	2.495	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.977	T	0.08700	-1.0709	10	0.87932	D	0	.	8.3492	0.32292	0.0:0.0893:0.0:0.9107	.	166;140	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	113;140;166	ENSP00000412610:I113S;ENSP00000316127:I140S;ENSP00000255499:I166S	ENSP00000255499:I166S	I	+	2	0	RNF128	105902811	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.987000	0.40687	1.889000	0.54706	0.417000	0.27973	ATT		0.328	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		78	260	0	0	0	1	0	78	260					G	106016155	T	G	106016155	3	3	79	1	0	0	0	0	1	0	0	0	13486	1493	52	4	913	4	RNF128	23	106016155	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	735444	106016155	49254405	21491	31808											
RNF128	79589	broad.mit.edu	37	chrX	106016311	106016311	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtgtccttttttattaTtacggcggcaactgtgggct	10	8	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016311T>G	ENST00000255499.2	+	2	903	c.653T>G	c.(652-654)aTt>aGt	p.I218S	RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	218					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTTTTATTATTACGGCGGCA	0.408																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(652-654)aTt>aGt		ring finger protein 128, E3 ubiquitin protein ligase							187	148	161					X																	106016311		2203	4300	6503	SO:0001583	missense	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106016311T>G	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.653T>G	X.37:g.106016311T>G	ENSP00000255499:p.Ile218Ser					RNF128_ENST00000324342.3_Missense_Mutation_p.I192S	p.I218S	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			2	903	+			218					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	c.653T>G	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.055257	0.55325	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.33438	1.41;2.75;2.56	5.83	5.83	0.93111	.	0.057243	0.64402	D	0.000002	T	0.25680	0.0625	N	0.14661	0.345	0.45272	D	0.998276	B;P	0.46395	0.237;0.877	B;P	0.46339	0.157;0.513	T	0.06552	-1.0820	10	0.56958	D	0.05	.	13.8541	0.63515	0.0:0.0:0.0:1.0	.	218;192	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	S	165;192;218	ENSP00000412610:I165S;ENSP00000316127:I192S;ENSP00000255499:I218S	ENSP00000255499:I218S	I	+	2	0	RNF128	105902967	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.987000	0.63857	1.953000	0.56701	0.417000	0.27973	ATT		0.408	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		107	392	0	0	0	1	0	107	392					G	106016311	T	G	106016311	3	3	79	1	0	0	0	0	1	0	0	0	13486	1493	52	4	1069	4	RNF128	23	106016311	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	156	106016311	49254249	21492	31809											
MORC4	79710	broad.mit.edu	37	chrX	106236586	106236586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagatacatctggatctacaGcattatctgcaaaaggtaga	8	8	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106236586G>T	ENST00000355610.4	-	3	456	c.182C>A	c.(181-183)gCt>gAt	p.A61D	MORC4_ENST00000535534.1_De_novo_Start_OutOfFrame|MORC4_ENST00000255495.7_Missense_Mutation_p.A61D	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	61						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						TGGATCTACAGCATTATCTGC	0.393																																						ENST00000535534.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28								MORC family CW-type zinc finger 4							107	94	98					X																	106236586		1870	4093	5963	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106236586G>T	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.182C>A	X.37:g.106236586G>T	ENSP00000347821:p.Ala61Asp					MORC4_ENST00000255495.7_Missense_Mutation_p.A61D|MORC4_ENST00000355610.4_Missense_Mutation_p.A61D				Q8TE76	MORC4_HUMAN			0	456	-								A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Translation_Start_Site	SNP	ENST00000355610.4	37		CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553454	0.86127	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	D;D	0.84370	-1.84;-1.84	5.44	5.44	0.79542	ATPase-like, ATP-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96314	0.9231	9	.	.	.	-13.0165	15.7844	0.78291	0.0:0.0:1.0:0.0	.	61;61	A1YR23;Q8TE76	.;MORC4_HUMAN	D	61	ENSP00000347821:A61D;ENSP00000255495:A61D	.	A	-	2	0	MORC4	106123242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.830000	0.92063	2.413000	0.81919	0.594000	0.82650	GCT		0.393	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		66	260	1	0	3.13743e-37	1	3.76563e-37	66	260					T	106236586	G	T	106236586	3	4	79	1	0	0	0	0	1	0	0	0	9745	971	34	3	2691	3	MORC4	23	106236586	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	220275	106236586	49033974	21493	31810											
TSC22D3	1831	broad.mit.edu	37	chrX	106957916	106957916	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttctccaccagctctcggaTctgctccttcaggatctcca	6	17	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106957916T>G	ENST00000372397.2	-	3	561	c.238A>C	c.(238-240)Atc>Ctc	p.I80L	TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372383.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	80	Leucine-zipper.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						AGCTCTCGGATCTGCTCCTTC	0.517																																						ENST00000372383.4																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(436-438)Atc>Ctc		TSC22 domain family, member 3							177	156	163					X																	106957916		2203	4300	6503	SO:0001583	missense	1831						sequence-specific DNA binding transcription factor activity	g.chrX:106957916T>G	Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"glucocorticoid-induced leucine zipper"	300506	"delta sleep inducing peptide, immunoreactor"	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.238A>C	X.37:g.106957916T>G	ENSP00000361474:p.Ile80Leu					TSC22D3_ENST00000372382.4_Missense_Mutation_p.I56L|TSC22D3_ENST00000372390.4_Missense_Mutation_p.I23L|TSC22D3_ENST00000514426.1_Missense_Mutation_p.I78L|TSC22D3_ENST00000372397.2_Missense_Mutation_p.I80L|TSC22D3_ENST00000315660.4_Missense_Mutation_p.I146L|TSC22D3_ENST00000506081.1_Missense_Mutation_p.I146L|TSC22D3_ENST00000372384.2_Missense_Mutation_p.I146L	p.I146L	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN			3	803	-			80					Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	ENST00000372397.2	37	c.436A>C	CCDS14531.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.482291	0.84747	.	.	ENSG00000157514	ENST00000372390;ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000486554	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.87900	2.915	0.80722	D	1	D;D	0.71674	0.977;0.998	D;D	0.87578	0.949;0.998	D	0.84334	0.0523	9	0.87932	D	0	-12.8729	12.659	0.56803	0.0:0.0:0.0:1.0	.	146;80	Q99576-3;Q99576	.;T22D3_HUMAN	L	23;80;146;146;146;125;56;146;78;23	.	ENSP00000314655:I146L	I	-	1	0	TSC22D3	106844572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.020000	0.88740	1.965000	0.57142	0.486000	0.48141	ATC		0.517	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057843.2	NM_198057		169	665	0	0	0	1	0	169	665					G	106957916	T	G	106957916	3	3	79	1	0	0	0	0	1	0	0	0	16662	1435	50	4	170	4	TSC22D3	23	106957916	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	721330	106957916	48312644	21494	31811											
MID2	11043	broad.mit.edu	37	chrX	107084366	107084366	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaaacatgcatcacctgTgaggtctcctactgtgaccg	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107084366T>C	ENST00000262843.6	+	2	1019	c.471T>C	c.(469-471)tgT>tgC	p.C157C	MID2_ENST00000443968.2_Silent_p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157					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						GCATCACCTGTGAGGTCTCCT	0.567																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(469-471)tgT>tgC		midline 2							53	46	49					X																	107084366		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084366T>C		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.471T>C	X.37:g.107084366T>C						MID2_ENST00000443968.2_Silent_p.C157C	p.C157C	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	1019	+			157					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.471T>C	CCDS14532.2																																																																																				0.567	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		43	165	0	0	0	1	0	43	165					C	107084366	T	C	107084366	2	2	79	1	0	0	0	0	0	0	0	1	9619	1702	59	4		4	MID2	23	107084366	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	126450	107084366	48186194	21495	31812											
MID2	11043	broad.mit.edu	37	chrX	107160956	107160956	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagctgctcaagattggcCggggcgccacgaggcaagtg	16	10	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107160956C>T	ENST00000262843.6	+	7	1970	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	474	Fibronectin type-III.				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						CAAGATTGGCCGGGGCGCCAC	0.483													C|||	2	0.000529801	0.0	0.0	3775	,	,		16260	0.002		0.0	False		,,,				2504	0.0					ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1420-1422)gcC>gcT		midline 2							121	102	108					X																	107160956		2203	4300	6503	SO:0001819	synonymous_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107160956C>T		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.1422C>T	X.37:g.107160956C>T						MID2_ENST00000443968.2_Intron|RP6-191P20.4_ENST00000430140.1_RNA	p.A474A	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			7	1970	+			474			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Silent	SNP	ENST00000262843.6	37	c.1422C>T	CCDS14532.2																																																																																				0.483	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		88	317	0	0	0	1	0	88	317					T	107160956	C	T	107160956	2	4	79	1	0	0	0	0	0	0	0	1	9619	639	23	1		1	MID2	23	107160956	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	76590	107160956	48109604	21496	31813											
MID2	11043	broad.mit.edu	37	chrX	107167644	107167644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accattacacagtgcatggaCtccagagcgggactcgctac	10	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107167644C>T	ENST00000262843.6	+	8	2055	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	MID2_ENST00000443968.2_Missense_Mutation_p.L473F|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	503	Fibronectin type-III.				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						AGTGCATGGACTCCAGAGCGG	0.458																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(1507-1509)Ctc>Ttc		midline 2							102	78	86					X																	107167644		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107167644C>T		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.1507C>T	X.37:g.107167644C>T	ENSP00000262843:p.Leu503Phe					MID2_ENST00000443968.2_Missense_Mutation_p.L473F|RP6-191P20.4_ENST00000430140.1_RNA	p.L503F	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			8	2055	+			503			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1507C>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554462	0.86231	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;D	0.84873	-1.01;-1.91	5.99	5.99	0.97316	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.98;0.997	D	0.89238	0.3582	10	0.72032	D	0.01	.	16.6313	0.85033	0.0:1.0:0.0:0.0	.	503;473	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	F	503;473	ENSP00000262843:L503F;ENSP00000413976:L473F	ENSP00000262843:L503F	L	+	1	0	MID2	107054300	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.035000	0.49759	2.536000	0.85505	0.600000	0.82982	CTC		0.458	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		76	268	0	0	0	1	0	76	268					T	107167644	C	T	107167644	3	4	79	1	0	0	0	0	1	0	0	0	9619	565	20	2	1537	2	MID2	23	107167644	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6688	107167644	48102916	21497	31814											
TEX13B	56156	broad.mit.edu	37	chrX	107224738	107224738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaatcccctccggcagtggCcaggcctggaaacactgtag	11	15	0	0	rs199689215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107224738C>T	ENST00000302917.1	-	3	603	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	171										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCGGCAGTGGCCAGGCCTGGA	0.617																																						ENST00000302917.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(511-513)Gcc>Acc		testis expressed 13B							61	72	68					X																	107224738		2195	4276	6471	SO:0001583	missense	0							g.chrX:107224738C>T	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.511G>A	X.37:g.107224738C>T	ENSP00000303777:p.Ala171Thr						p.A171T	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			3	603	-			171					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.511G>A	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883802	0.33255	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.37	2.5	0.30297	.	.	.	.	.	T	0.26774	0.0655	L	0.35854	1.095	0.09310	N	1	P	0.40970	0.734	B	0.39531	0.302	T	0.11665	-1.0578	8	0.52906	T	0.07	.	5.677	0.17753	0.0:0.8465:0.0:0.1535	.	171	Q9BXU2	TX13B_HUMAN	T	171	.	ENSP00000303777:A171T	A	-	1	0	TEX13B	107111394	0.028000	0.19301	0.003000	0.11579	0.024000	0.10985	1.307000	0.33516	0.792000	0.33850	0.415000	0.27848	GCC		0.617	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			135	869	0	0	0	1	0	135	869					T	107224738	C	T	107224738	3	4	79	1	0	0	0	0	1	0	0	0	15829	739	26	2	431	2	TEX13B	23	107224738	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	57094	107224738	48045822	21498	31815											
TEX13B	56156	broad.mit.edu	37	chrX	107225187	107225187	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacctcgctgggcacctcGctgtcctccaggatggccct	11	16	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107225187G>A	ENST00000302917.1	-	2	263	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57								p.S57S(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGGGCACCTCGCTGTCCTCCA	0.602																																						ENST00000302917.1																			1	Substitution - coding silent(1)	p.S57S(1)	lung(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(169-171)agC>agT		testis expressed 13B							99	91	94					X																	107225187		2199	4300	6499	SO:0001819	synonymous_variant	0							g.chrX:107225187G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.171C>T	X.37:g.107225187G>A							p.S57S	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			2	263	-			57					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.171C>T	CCDS14534.1																																																																																				0.602	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			26	712	0	0	0	1	0	26	712					A	107225187	G	A	107225187	2	1	79	1	0	0	0	0	0	0	0	1	15829	1078	38	1		1	TEX13B	23	107225187	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	449	107225187	48045373	21499	31816											
COL4A6	1288	broad.mit.edu	37	chrX	107418934	107418934	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atggtcccatttttccagttGatcctggaattccttttaat	6	9	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107418934G>A	ENST00000372216.4	-	29	2883	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000394872.2_Missense_Mutation_p.S928L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	928	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						TTTTCCAGTTGATCCTGGAAT	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2782-2784)tCa>tTa		collagen, type IV, alpha 6							114	97	103					X																	107418934		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107418934G>A	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.2783C>T	X.37:g.107418934G>A	ENSP00000361290:p.Ser928Leu					COL4A6_ENST00000538570.1_Missense_Mutation_p.S927L|COL4A6_ENST00000545689.1_Missense_Mutation_p.S927L|COL4A6_ENST00000334504.7_Missense_Mutation_p.S927L|COL4A6_ENST00000372216.4_Missense_Mutation_p.S928L	p.S928L			Q14031	CO4A6_HUMAN			29	3014	-			928			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2783C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	7.815	0.716629	0.15306	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.21	2.29	0.28610	.	0.484707	0.15540	N	0.257006	T	0.79161	0.4399	N	0.04880	-0.145	0.09310	N	1	B;B;B;B	0.27351	0.069;0.176;0.085;0.069	B;B;B;B	0.31547	0.029;0.132;0.102;0.062	T	0.66156	-0.5994	10	0.11182	T	0.66	.	5.6142	0.17422	0.2836:0.1396:0.5768:0.0	.	927;927;928;927	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	L	928;927;928;927;927;927	ENSP00000361290:S928L;ENSP00000334733:S927L;ENSP00000378340:S928L;ENSP00000443707:S927L;ENSP00000445236:S927L	ENSP00000334733:S927L	S	-	2	0	COL4A6	107305590	0.028000	0.19301	0.002000	0.10522	0.005000	0.04900	1.662000	0.37418	0.195000	0.20347	0.513000	0.50165	TCA		0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			59	213	0	0	0	1	0	59	213					A	107418934	G	A	107418934	3	1	79	1	0	0	0	0	1	0	0	0	3704	1294	45	2	2360	2	COL4A6	23	107418934	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	193747	107418934	47851626	21500	31817											
COL4A6	1288	broad.mit.edu	37	chrX	107423784	107423784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccaatcctggactccctgGctctcctttacttccacttg	5	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107423784G>A	ENST00000372216.4	-	25	2195	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000394872.2_Missense_Mutation_p.P699S	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	699	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						GGACTCCCTGGCTCTCCTTTA	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2095-2097)Cca>Tca		collagen, type IV, alpha 6							64	50	55					X																	107423784		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107423784G>A	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.2095C>T	X.37:g.107423784G>A	ENSP00000361290:p.Pro699Ser					COL4A6_ENST00000538570.1_Missense_Mutation_p.P698S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P698S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P698S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P699S	p.P699S			Q14031	CO4A6_HUMAN			25	2326	-			699			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2095C>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614929	0.14129	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.16	4.29	0.51040	.	0.417786	0.18228	N	0.147645	D	0.97629	0.9223	M	0.62088	1.915	0.09310	N	0.999991	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	0.995;0.992;1.0;0.989	D	0.93118	0.6522	10	0.40728	T	0.16	.	11.1653	0.48539	0.0:0.1351:0.7218:0.143	.	698;698;699;698	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	S	699;698;699;698;698;698	ENSP00000361290:P699S;ENSP00000334733:P698S;ENSP00000378340:P699S;ENSP00000443707:P698S;ENSP00000445236:P698S	ENSP00000334733:P698S	P	-	1	0	COL4A6	107310440	0.009000	0.17119	0.010000	0.14722	0.016000	0.09150	1.545000	0.36169	1.230000	0.43646	0.513000	0.50165	CCA		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			44	118	0	0	0	1	0	44	118					A	107423784	G	A	107423784	3	1	79	1	0	0	0	0	1	0	0	0	3704	1203	42	2	3064	2	COL4A6	23	107423784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	4850	107423784	47846776	21501	31818											
COL4A6	1288	broad.mit.edu	37	chrX	107434631	107434631	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagtaacttactaggtgggCctggtggacctggtgggcct	16	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107434631C>A	ENST00000372216.4	-	19	1416	c.1316G>T	c.(1315-1317)gGc>gTc	p.G439V	COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G439V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	439	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						ACTAGGTGGGCCTGGTGGACC	0.542									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1315-1317)gGc>gTc		collagen, type IV, alpha 6							159	141	147					X																	107434631		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107434631C>A	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.1316G>T	X.37:g.107434631C>A	ENSP00000361290:p.Gly439Val					COL4A6_ENST00000538570.1_Missense_Mutation_p.G438V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G438V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G438V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G439V	p.G439V			Q14031	CO4A6_HUMAN			19	1547	-			439			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.1316G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065035	0.36470	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53;-5.53	5.35	5.35	0.76521	.	0.000000	0.43260	D	0.000600	D	0.99432	0.9799	M	0.91768	3.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98693	1.0697	10	0.72032	D	0.01	.	17.3384	0.87288	0.0:1.0:0.0:0.0	.	438;438;439;438	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	439;438;439;438;438;438	ENSP00000361290:G439V;ENSP00000334733:G438V;ENSP00000378340:G439V;ENSP00000443707:G438V;ENSP00000445236:G438V	ENSP00000334733:G438V	G	-	2	0	COL4A6	107321287	1.000000	0.71417	0.557000	0.28306	0.877000	0.50540	5.212000	0.65225	2.562000	0.86427	0.600000	0.82982	GGC		0.542	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			148	638	1	0	3.31903e-57	1	4.15634e-57	148	638					A	107434631	C	A	107434631	3	1	79	1	0	0	0	0	1	0	0	0	3704	739	26	3	3867	3	COL4A6	23	107434631	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	10847	107434631	47835929	21502	31819											
COL4A5	1287	broad.mit.edu	37	chrX	107936017	107936017	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgctttagtaccatgcCtttcatgttctgcaacatca	6	12	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107936017C>A	ENST00000361603.2	+	48	4794	c.4550C>A	c.(4549-4551)cCt>cAt	p.P1517H	COL4A5_ENST00000328300.6_Missense_Mutation_p.P1523H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1517	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		P -> T (in APSX; juvenile type). {ECO:0000269|PubMed:8406498, ECO:0000269|PubMed:9452056}.		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						AGTACCATGCCTTTCATGTTC	0.438									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4567-4569)cCt>cAt		collagen, type IV, alpha 5							129	99	109					X																	107936017		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107936017C>A	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.4550C>A	X.37:g.107936017C>A	ENSP00000354505:p.Pro1517His					COL4A5_ENST00000361603.2_Missense_Mutation_p.P1517H	p.P1523H	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			50	4812	+			1517			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4568C>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821469	0.90873	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95069	-3.6;-3.6	5.82	5.82	0.92795	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	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	0.99632	1.0986	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	1520;1517	E7EVY4;P29400	.;CO4A5_HUMAN	H	1523;1517;1523	ENSP00000331902:P1523H;ENSP00000354505:P1517H	ENSP00000331902:P1523H	P	+	2	0	COL4A5	107822673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.594000	0.82650	CCT		0.438	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			75	253	1	0	1.58458e-29	1	1.85199e-29	75	253					A	107936017	C	A	107936017	3	1	79	1	0	0	0	0	1	0	0	0	3703	681	24	3	4751	3	COL4A5	23	107936017	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	501386	107936017	47334543	21503	31820											
IRS4	8471	broad.mit.edu	37	chrX	107978100	107978100	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggccatttcctgagccccaaTtgttcataggcatgtagtca	9	11	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107978100T>A	ENST00000372129.2	-	1	1551	c.1475A>T	c.(1474-1476)aAt>aTt	p.N492I	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	492					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						TGAGCCCCAATTGTTCATAGG	0.572																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1474-1476)aAt>aTt		insulin receptor substrate 4							131	122	125					X																	107978100		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978100T>A	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.1475A>T	X.37:g.107978100T>A	ENSP00000361202:p.Asn492Ile						p.N492I	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1551	-			492						Missense_Mutation	SNP	ENST00000372129.2	37	c.1475A>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819291	0.32145	.	.	ENSG00000133124	ENST00000372129	T	0.36520	1.25	4.2	3.03	0.35002	.	0.406336	0.24523	N	0.037795	T	0.22282	0.0537	N	0.24115	0.695	0.27948	N	0.937263	B	0.25312	0.123	B	0.24006	0.05	T	0.13124	-1.0521	10	0.45353	T	0.12	-3.4817	7.3493	0.26680	0.0:0.1108:0.0:0.8892	.	492	O14654	IRS4_HUMAN	I	492	ENSP00000361202:N492I	ENSP00000361202:N492I	N	-	2	0	IRS4	107864756	0.029000	0.19370	0.977000	0.42913	0.954000	0.61252	0.552000	0.23376	0.754000	0.32968	0.483000	0.47432	AAT		0.572	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		180	577	0	0	0	1	0	180	577					A	107978100	T	A	107978100	3	1	79	1	0	0	0	0	1	0	0	0	7872	1493	52	5	2302	5	IRS4	23	107978100	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	42083	107978100	47292460	21504	31821											
IRS4	8471	broad.mit.edu	37	chrX	107979104	107979104	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttgcatctgctcgctgGctcacggaaaagcactggta	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979104G>A	ENST00000372129.2	-	1	547	c.471C>T	c.(469-471)agC>agT	p.S157S	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	157	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGCTCGCTGGCTCACGGAAA	0.637																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(469-471)agC>agT		insulin receptor substrate 4							63	52	56					X																	107979104		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979104G>A	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.471C>T	X.37:g.107979104G>A							p.S157S	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	547	-			157			PH.			Silent	SNP	ENST00000372129.2	37	c.471C>T	CCDS14544.1																																																																																				0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		88	304	0	0	0	1	0	88	304					A	107979104	G	A	107979104	2	1	79	1	0	0	0	0	0	0	0	1	7872	1194	42	2		2	IRS4	23	107979104	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1004	107979104	47291456	21505	31822											
IRS4	8471	broad.mit.edu	37	chrX	107979287	107979287	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagtctcgagtttgagcacGaagtagcgcctgtgcccatg	13	11	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979287G>A	ENST00000372129.2	-	1	364	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	96	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGAGCACGAAGTAGCGCC	0.627																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(286-288)ttC>ttT		insulin receptor substrate 4							70	58	62					X																	107979287		2200	4298	6498	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979287G>A	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.288C>T	X.37:g.107979287G>A							p.F96F	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	364	-			96			PH.			Silent	SNP	ENST00000372129.2	37	c.288C>T	CCDS14544.1																																																																																				0.627	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		24	652	0	0	0	1	0	24	652					A	107979287	G	A	107979287	2	1	79	1	0	0	0	0	0	0	0	1	7872	1049	37	1		1	IRS4	23	107979287	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	183	107979287	47291273	21506	31823											
GUCY2F	2986	broad.mit.edu	37	chrX	108628419	108628419	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tattaggtactcacgtaagcCtgtagattccatccgagaag	9	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:108628419C>A	ENST00000218006.2	-	16	3340	c.3049G>T	c.(3049-3051)Ggc>Tgc	p.G1017C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1017					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						TCACGTAAGCCTGTAGATTCC	0.493																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3049-3051)Ggc>Tgc		guanylate cyclase 2F, retinal							125	90	102					X																	108628419		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108628419C>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3049G>T	X.37:g.108628419C>A	ENSP00000218006:p.Gly1017Cys						p.G1017C	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			16	3340	-			1017					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.3049G>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635813	0.67130	.	.	ENSG00000101890	ENST00000218006	D	0.86497	-2.13	4.24	4.24	0.50183	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.81614	2.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.93696	0.7011	10	0.87932	D	0	.	13.4908	0.61393	0.0:1.0:0.0:0.0	.	1017	P51841	GUC2F_HUMAN	C	1017	ENSP00000218006:G1017C	ENSP00000218006:G1017C	G	-	1	0	GUCY2F	108515075	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	4.778000	0.62368	2.350000	0.79820	0.600000	0.82982	GGC		0.493	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		66	282	1	0	9.4991e-31	1	1.11549e-30	66	282					A	108628419	C	A	108628419	3	1	79	1	0	0	0	0	1	0	0	0	6928	681	24	3	293	3	GUCY2F	23	108628419	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	649132	108628419	46642141	21507	31824											
TMEM164	84187	broad.mit.edu	37	chrX	109416479	109416479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccttgtccctgcaggtcaccGaagtgaatttgaacaacatg	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109416479G>A	ENST00000372073.1	+	7	1030	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K|TMEM164_ENST00000464177.1_3'UTR			Q5U3C3	TM164_HUMAN	transmembrane protein 164	232						integral component of membrane (GO:0016021)		p.E193K(1)|p.E232K(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCAGGTCACCGAAGTGAATTT	0.547																																						ENST00000372073.1																			2	Substitution - Missense(2)	p.E193K(1)|p.E232K(1)	large_intestine(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(694-696)Gaa>Aaa		transmembrane protein 164							116	88	97					X																	109416479		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109416479G>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.694G>A	X.37:g.109416479G>A	ENSP00000361143:p.Glu232Lys					TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.E193K|TMEM164_ENST00000372072.3_Missense_Mutation_p.E83K|TMEM164_ENST00000372068.2_Missense_Mutation_p.E232K	p.E232K			Q5U3C3	TM164_HUMAN			7	1030	+			232					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.694G>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	15.35	2.807907	0.50421	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.52	5.52	0.82312	.	0.045262	0.85682	N	0.000000	T	0.37517	0.1006	L	0.49350	1.555	0.80722	D	1	P;P	0.47545	0.897;0.584	B;B	0.35114	0.196;0.064	T	0.33292	-0.9874	10	0.41790	T	0.15	-3.7445	18.5819	0.91174	0.0:0.0:1.0:0.0	.	193;232	Q9H617;Q5U3C3	.;TM164_HUMAN	K	83;232;232;193;193	ENSP00000384075:E83K;ENSP00000361143:E232K;ENSP00000361138:E232K;ENSP00000288381:E193K	ENSP00000288381:E193K	E	+	1	0	TMEM164	109303135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.472000	0.97709	2.331000	0.79229	0.525000	0.51046	GAA		0.547	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		83	296	0	0	0	1	0	83	296					A	109416479	G	A	109416479	3	1	79	1	0	0	0	0	1	0	0	0	16131	1059	37	1	716	1	TMEM164	23	109416479	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	788060	109416479	45854081	21508	31825											
RGAG1	57529	broad.mit.edu	37	chrX	109695829	109695829	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcaaatgacagacacaGcctctggagggttgtctgca	12	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109695829G>T	ENST00000465301.2	+	3	2230	c.1984G>T	c.(1984-1986)Gcc>Tcc	p.A662S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	662										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GACAGACACAGCCTCTGGAGG	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1984-1986)Gcc>Tcc		retrotransposon gag domain containing 1							105	88	94					X																	109695829		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695829G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1984G>T	X.37:g.109695829G>T	ENSP00000419786:p.Ala662Ser					RGAG1_ENST00000540313.1_Missense_Mutation_p.A662S	p.A662S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2230	+			662					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1984G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231386	0.09969	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.55052	0.54;0.54	4.21	2.44	0.29823	.	0.442010	0.16858	N	0.196635	T	0.42607	0.1210	L	0.46157	1.445	0.09310	N	1	B	0.22683	0.073	B	0.30855	0.121	T	0.31475	-0.9942	9	.	.	.	-1.1739	5.4762	0.16697	0.3577:0.0:0.6423:0.0	.	662	Q8NET4	RGAG1_HUMAN	S	662	ENSP00000419786:A662S;ENSP00000441452:A662S	.	A	+	1	0	RGAG1	109582485	0.946000	0.32159	0.009000	0.14445	0.335000	0.28730	1.758000	0.38410	0.544000	0.28883	0.529000	0.55759	GCC		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		76	243	1	0	1.68946e-44	1	2.06755e-44	76	243					T	109695829	G	T	109695829	3	4	79	1	0	0	0	0	1	0	0	0	13324	971	34	3	1986	3	RGAG1	23	109695829	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	279350	109695829	45574731	21509	31826											
RGAG1	57529	broad.mit.edu	37	chrX	109696078	109696078	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaccgctggagggatgCagatgaattccccaacctct	10	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109696078C>T	ENST00000465301.2	+	3	2479	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	745										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGGGATGCAGATGAATTC	0.527																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(2233-2235)Cag>Tag		retrotransposon gag domain containing 1							155	136	142					X																	109696078		2203	4300	6503	SO:0001587	stop_gained	57529							g.chrX:109696078C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2233C>T	X.37:g.109696078C>T	ENSP00000419786:p.Gln745*					RGAG1_ENST00000540313.1_Nonsense_Mutation_p.Q745*	p.Q745*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	2479	+			745					Q9P2M8	Nonsense_Mutation	SNP	ENST00000465301.2	37	c.2233C>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093506	0.76756	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	.	.	.	4.15	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0686	0.47989	0.0:0.8149:0.1851:0.0	.	.	.	.	X	745	.	.	Q	+	1	0	RGAG1	109582734	0.004000	0.15560	0.011000	0.14972	0.023000	0.10783	1.169000	0.31871	1.087000	0.41251	0.600000	0.82982	CAG		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		97	339	0	0	0	1	0	97	339					T	109696078	C	T	109696078	4	4	79	1	0	0	0	0	0	1	0	0	13324	711	25	2	2235	2	RGAG1	23	109696078	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	249	109696078	45574482	21510	31827											
ALG13	79868	broad.mit.edu	37	chrX	110954908	110954908	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttatttttgaagtatgtGgagggatcttttgagaaata	11	1	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:110954908G>A	ENST00000394780.3	+	6	852	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.V176V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	280	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TGAAGTATGTGGAGGGATCTT	0.343																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(838-840)gtG>gtA		ALG13, UDP-N-acetylglucosaminyltransferase subunit							236	186	201					X																	110954908		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110954908G>A	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.840G>A	X.37:g.110954908G>A						ALG13_ENST00000251943.4_Silent_p.V176V	p.V280V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			6	852	+			280			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.840G>A	CCDS55477.1																																																																																				0.343	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		34	114	0	0	0	1	0	34	114					A	110954908	G	A	110954908	2	1	79	1	0	0	0	0	0	0	0	1	515	1335	47	2		2	ALG13	23	110954908	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1258830	110954908	44315652	21511	31828											
TRPC5	7224	broad.mit.edu	37	chrX	111090508	111090508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggatatcaagcagcatgcGtcccaaagagatctgcagag	12	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111090508G>A	ENST00000262839.2	-	6	2452	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	512					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						AGCAGCATGCGTCCCAAAGAG	0.443																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1534-1536)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 5							154	138	143					X																	111090508		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090508G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1534C>T	X.37:g.111090508G>A	ENSP00000262839:p.Arg512Cys						p.R512C	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			6	2452	-			512					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1534C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429090	0.62844	.	.	ENSG00000072315	ENST00000262839	D	0.98747	-5.11	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.988;0.996	D	0.99537	1.0962	10	0.62326	D	0.03	-12.7276	13.2903	0.60267	0.0:0.0:0.8419:0.1581	.	513;512	Q59G51;Q9UL62	.;TRPC5_HUMAN	C	512	ENSP00000262839:R512C	ENSP00000262839:R512C	R	-	1	0	TRPC5	110977164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.799000	0.55529	2.261000	0.74972	0.436000	0.28706	CGC		0.443	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		111	384	0	0	0	1	0	111	384					A	111090508	G	A	111090508	3	1	79	1	0	0	0	0	1	0	0	0	16635	1145	40	1	1411	1	TRPC5	23	111090508	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	135600	111090508	44180052	21512	31829											
TRPC5	7224	broad.mit.edu	37	chrX	111097109	111097109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcataaagaggaaggTcaaataggatgctgtgtggc	15	4	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097109T>C	ENST00000262839.2	-	4	2044	c.1126A>G	c.(1126-1128)Acc>Gcc	p.T376A		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	376					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						AAGAGGAAGGTCAAATAGGAT	0.488																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1126-1128)Acc>Gcc		transient receptor potential cation channel, subfamily C, member 5							129	111	117					X																	111097109		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097109T>C	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.1126A>G	X.37:g.111097109T>C	ENSP00000262839:p.Thr376Ala						p.T376A	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			4	2044	-			376					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1126A>G	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.184230	0.57800	.	.	ENSG00000072315	ENST00000262839	T	0.56611	0.45	4.95	4.95	0.65309	.	0.045076	0.85682	D	0.000000	T	0.51753	0.1693	M	0.66506	2.035	0.80722	D	1	B;B	0.30281	0.157;0.275	B;B	0.29176	0.059;0.099	T	0.55049	-0.8201	10	0.49607	T	0.09	-2.7783	13.9562	0.64150	0.0:0.0:0.0:1.0	.	377;376	Q59G51;Q9UL62	.;TRPC5_HUMAN	A	376	ENSP00000262839:T376A	ENSP00000262839:T376A	T	-	1	0	TRPC5	110983765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	1.939000	0.56221	0.486000	0.48141	ACC		0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		22	463	0	0	0	1	0	22	463					C	111097109	T	C	111097109	3	2	79	1	0	0	0	0	1	0	0	0	16635	1667	58	4	1827	4	TRPC5	23	111097109	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	6601	111097109	44173451	21513	31830											
TRPC5	7224	broad.mit.edu	37	chrX	111097131	111097131	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaataggatgctgtgtggcaGataaacttgataaagggttt	12	3	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097131G>T	ENST00000262839.2	-	4	2022	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	368					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						CTGTGTGGCAGATAAACTTGA	0.493																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1102-1104)atC>atA		transient receptor potential cation channel, subfamily C, member 5							123	108	113					X																	111097131		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097131G>T	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.1104C>A	X.37:g.111097131G>T							p.I368I	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			4	2022	-			368					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1104C>A	CCDS14561.1																																																																																				0.493	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		53	399	1	0	2.48254e-18	1	2.75398e-18	53	399					T	111097131	G	T	111097131	2	4	79	1	0	0	0	0	0	0	0	1	16635	932	33	3		3	TRPC5	23	111097131	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22	111097131	44173429	21514	31831											
TRPC5	7224	broad.mit.edu	37	chrX	111155577	111155577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtcatggtacttctgaGggtcaagctcttcactgtgg	12	10	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111155577G>A	ENST00000262839.2	-	3	1760	c.842C>T	c.(841-843)cCt>cTt	p.P281L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	281					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						GTACTTCTGAGGGTCAAGCTC	0.507																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(841-843)cCt>cTt		transient receptor potential cation channel, subfamily C, member 5							214	172	186					X																	111155577		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111155577G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.842C>T	X.37:g.111155577G>A	ENSP00000262839:p.Pro281Leu						p.P281L	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			3	1760	-			281					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.842C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655314	0.47467	.	.	ENSG00000072315	ENST00000262839	T	0.62498	0.02	6.17	6.17	0.99709	.	0.163888	0.53938	D	0.000042	T	0.54791	0.1880	L	0.33339	1.005	0.80722	D	1	B;B	0.11235	0.001;0.004	B;B	0.12837	0.003;0.008	T	0.45818	-0.9235	10	0.23891	T	0.37	-35.0497	19.7362	0.96205	0.0:0.0:1.0:0.0	.	282;281	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	281	ENSP00000262839:P281L	ENSP00000262839:P281L	P	-	2	0	TRPC5	111042233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.273000	0.43381	2.618000	0.88619	0.600000	0.82982	CCT		0.507	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		172	567	0	0	0	1	0	172	567					A	111155577	G	A	111155577	3	1	79	1	0	0	0	0	1	0	0	0	16635	1000	35	2	2115	2	TRPC5	23	111155577	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	58446	111155577	44114983	21515	31832											
AMOT	154796	broad.mit.edu	37	chrX	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggatttcgatgtgtcGtctttggtcctcattggtag	11	8	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112048243G>A	ENST00000524145.1	-	6	1782	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*			Q4VCS5	AMOT_HUMAN	angiomotin	570					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						TCGATGTGTCGTCTTTGGTCC	0.512																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1708-1710)Cga>Tga		angiomotin							282	234	250					X																	112048243		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112048243G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1708C>T	X.37:g.112048243G>A	ENSP00000429013:p.Arg570*					AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*	p.R570*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			5	1707	-			570					Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.1708C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	g	39	7.434134	0.98282	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.96	4.17	0.49024	.	0.054811	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5027	12.9983	0.58660	0.0:0.0:0.4395:0.5605	.	.	.	.	X	161;570;338;570;338	.	ENSP00000305557:R161X	R	-	1	2	AMOT	111934899	0.999000	0.42202	0.985000	0.45067	0.996000	0.88848	2.872000	0.48467	0.623000	0.30267	0.597000	0.82753	CGA		0.512	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		246	961	0	0	0	1	0	246	961					A	112048243	G	A	112048243	4	1	79	1	0	0	0	0	0	1	0	0	582	1153	40	1	1574	1	AMOT	23	112048243	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	892666	112048243	43222317	21516	31833											
AMOT	154796	broad.mit.edu	37	chrX	112054512	112054512	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcatgcatcctccgaAtctcgccctctagcttgttt	6	13	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112054512A>G	ENST00000524145.1	-	4	1576	c.1502T>C	c.(1501-1503)aTt>aCt	p.I501T	AMOT_ENST00000371962.1_Missense_Mutation_p.I269T|AMOT_ENST00000371959.3_Missense_Mutation_p.I501T|AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371958.1_Missense_Mutation_p.I269T			Q4VCS5	AMOT_HUMAN	angiomotin	501					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						CATCCTCCGAATCTCGCCCTC	0.517																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1501-1503)aTt>aCt		angiomotin							249	208	222					X																	112054512		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112054512A>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1502T>C	X.37:g.112054512A>G	ENSP00000429013:p.Ile501Thr					AMOT_ENST00000371958.1_Missense_Mutation_p.I269T|AMOT_ENST00000524145.1_Missense_Mutation_p.I501T|AMOT_ENST00000304758.1_Missense_Mutation_p.I92T|AMOT_ENST00000371962.1_Missense_Mutation_p.I269T	p.I501T	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			3	1501	-			501					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1502T>C	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262921	0.59431	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.89	5.89	0.94794	.	0.105412	0.64402	D	0.000003	T	0.42245	0.1194	M	0.79123	2.44	0.50467	D	0.999876	D	0.53151	0.958	P	0.50082	0.63	T	0.46020	-0.9221	10	0.72032	D	0.01	-15.3733	14.3202	0.66482	1.0:0.0:0.0:0.0	.	501	Q4VCS5	AMOT_HUMAN	T	92;501;269;501;269	ENSP00000305557:I92T;ENSP00000361027:I501T;ENSP00000361030:I269T;ENSP00000429013:I501T;ENSP00000361026:I269T	ENSP00000305557:I92T	I	-	2	0	AMOT	111941168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	1.980000	0.57719	0.486000	0.48141	ATT		0.517	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		179	717	0	0	0	1	0	179	717					G	112054512	A	G	112054512	3	3	79	1	0	0	0	0	1	0	0	0	582	101	4	4	1788	4	AMOT	23	112054512	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	6269	112054512	43216048	21517	31834											
LRCH2	57631	broad.mit.edu	37	chrX	114404869	114404869	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgttacattacctgtctgTgagaggctgtgagggcattc	12	7	1	2	rs374160829		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:114404869T>G	ENST00000317135.8	-	6	1021	c.991A>C	c.(991-993)Aca>Cca	p.T331P	LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	331										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TACCTGTCTGTGAGAGGCTGT	0.333																																						ENST00000317135.8																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(991-993)Aca>Cca		leucine-rich repeats and calponin homology (CH) domain containing 2							103	91	95					X																	114404869		1893	4100	5993	SO:0001583	missense	57631							g.chrX:114404869T>G	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.991A>C	X.37:g.114404869T>G	ENSP00000325091:p.Thr331Pro					LRCH2_ENST00000538422.1_Missense_Mutation_p.T331P	p.T331P	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN			6	1021	-			331					F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	c.991A>C	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.693341	0.68386	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	T;T	0.00902	5.6;5.56	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.987;0.966	T	0.64407	-0.6415	10	0.27082	T	0.32	-13.9619	13.7074	0.62648	0.0:0.0:0.0:1.0	.	331;331	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	P	331	ENSP00000325091:T331P;ENSP00000439366:T331P	ENSP00000325091:T331P	T	-	1	0	LRCH2	114311125	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.662000	0.83803	1.917000	0.55516	0.481000	0.45027	ACA		0.333	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		8	37	0	0	0	1	0	8	37					G	114404869	T	G	114404869	3	3	79	1	0	0	0	0	1	0	0	0	8971	1696	59	4	1370	4	LRCH2	23	114404869	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	2350357	114404869	40865691	21518	31835											
DOCK11	139818	broad.mit.edu	37	chrX	117676803	117676803	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcccaatggaagatatatCtgtgagttcacaaacacttc	7	9	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:117676803C>A	ENST00000276202.7	+	2	281	c.218C>A	c.(217-219)tCt>tAt	p.S73Y	DOCK11_ENST00000276204.6_Splice_Site_p.S73Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	73	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						GAAGATATATCTGTGAGTTCA	0.403																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.e2+1		dedicator of cytokinesis 11							127	125	126					X																	117676803		2203	4300	6503	SO:0001630	splice_region_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117676803C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.219+1C>A	X.37:g.117676803C>A						DOCK11_ENST00000276202.7_Splice_Site_p.S73_splice	p.S73_splice			Q5JSL3	DOC11_HUMAN			2	292	+			73			Interaction with activated CDC42 (By similarity).		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37	c.219_splice	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708339	0.68615	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.46063	0.88;0.88	5.37	5.37	0.77165	.	0.202957	0.44285	D	0.000473	T	0.46698	0.1406	M	0.69358	2.11	0.46260	D	0.998954	P	0.37636	0.603	B	0.42593	0.392	T	0.52056	-0.8626	10	0.87932	D	0	-31.1697	10.5212	0.44920	0.0:0.9077:0.0:0.0923	.	73	Q5JSL3	DOC11_HUMAN	Y	73	ENSP00000276204:S73Y;ENSP00000276202:S73Y	ENSP00000276202:S73Y	S	+	2	0	DOCK11	117560831	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.953000	0.49105	2.235000	0.73313	0.590000	0.80494	TCT		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	Missense_Mutation	32	677	1	0	7.16026e-08	1	7.45543e-08	32	677					A	117676803	C	A	117676803	5	1	79	1	0	0	0	0	0	0	1	0	4702	927	32	3	224	3	DOCK11	23	117676803	Splice_Site	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3271934	117676803	37593757	21519	31836											
LONRF3	79836	broad.mit.edu	37	chrX	118112410	118112410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaatagcatgtaagctccGcccgatgggttttaaggtga	12	7	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	ENST00000371628.3	+	2	951	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H|LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	307							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGTAAGCTCCGCCCGATGGGT	0.498																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(919-921)cGc>cAc		LON peptidase N-terminal domain and ring finger 3							121	107	112					X																	118112410		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118112410G>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.920G>A	X.37:g.118112410G>A	ENSP00000360690:p.Arg307His					LONRF3_ENST00000371628.3_Missense_Mutation_p.R307H|LONRF3_ENST00000422289.2_5'UTR|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.R307H	p.R307H			Q496Y0	LONF3_HUMAN			2	1083	+			307					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.920G>A	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652612	0.67472	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.60171	0.21;0.21;0.21	5.46	4.41	0.53225	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.369547	0.26812	N	0.022377	T	0.52645	0.1747	L	0.29908	0.895	0.80722	D	1	D;D	0.55605	0.964;0.972	P;P	0.53954	0.666;0.738	T	0.54879	-0.8227	10	0.59425	D	0.04	-3.9659	6.1812	0.20472	0.2769:0.0:0.7231:0.0	.	307;307	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	H	307	ENSP00000360691:R307H;ENSP00000307732:R307H;ENSP00000360690:R307H	ENSP00000307732:R307H	R	+	2	0	LONRF3	117996438	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	3.323000	0.52014	2.301000	0.77427	0.600000	0.82982	CGC		0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		63	263	0	0	0	1	0	63	263					A	118112410	G	A	118112410	3	1	79	1	0	0	0	0	1	0	0	0	8934	1087	38	1	926	1	LONRF3	23	118112410	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	435607	118112410	37158150	21520	31837											
KIAA1210	57481	broad.mit.edu	37	chrX	118223067	118223067	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggccttttgtaaatcaaagCtgaaagcttcttgatcttct	8	8	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118223067C>A	ENST00000402510.2	-	11	2125	c.2126G>T	c.(2125-2127)aGc>aTc	p.S709I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	709										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						TAAATCAAAGCTGAAAGCTTC	0.428																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(2125-2127)aGc>aTc		KIAA1210							43	42	43					X																	118223067		1909	4130	6039	SO:0001583	missense	57481							g.chrX:118223067C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2126G>T	X.37:g.118223067C>A	ENSP00000384670:p.Ser709Ile						p.S709I	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			11	2125	-			709					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.2126G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.54|14.54	2.565356|2.565356	0.45694|0.45694	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.13657	.|2.57	4.44|4.44	3.57|3.57	0.40892|0.40892	.|.	.|.	.|.	.|.	.|.	T|T	0.16128|0.16128	0.0388|0.0388	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|D	.|0.56035	.|0.974	.|P	.|0.50270	.|0.636	T|T	0.07731|0.07731	-1.0757|-1.0757	5|9	.|0.72032	.|D	.|0.01	.|.	8.7899|8.7899	0.34843|0.34843	0.2236:0.7764:0.0:0.0|0.2236:0.7764:0.0:0.0	.|.	.|709	.|Q9ULL0	.|K1210_HUMAN	H|I	115|709	.|ENSP00000384670:S709I	.|ENSP00000384670:S709I	Q|S	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118107095|118107095	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.029000|0.029000	0.11900|0.11900	-0.033000|-0.033000	0.12246|0.12246	1.205000|1.205000	0.43262|0.43262	0.506000|0.506000	0.49869|0.49869	CAG|AGC		0.428	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		54	176	1	0	8.52529e-16	1	9.33448e-16	54	176					A	118223067	C	A	118223067	3	1	79	1	0	0	0	0	1	0	0	0	8244	797	28	3	3019	3	KIAA1210	23	118223067	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	110657	118223067	37047493	21521	31838											
KIAA1210	57481	broad.mit.edu	37	chrX	118239009	118239009	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttgtggattcttaggTgactcatcatcgagagagat	10	6	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118239009T>C	ENST00000402510.2	-	7	1013	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	338										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						GATTCTTAGGTGACTCATCAT	0.463																																						ENST00000402510.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(1012-1014)tcA>tcG		KIAA1210							150	144	146					X																	118239009		1908	4127	6035	SO:0001819	synonymous_variant	57481							g.chrX:118239009T>C	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.1014A>G	X.37:g.118239009T>C							p.S338S	NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN			7	1013	-			338					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.1014A>G	CCDS48156.1																																																																																				0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		24	742	0	0	0	1	0	24	742					C	118239009	T	C	118239009	2	2	79	1	0	0	0	0	0	0	0	1	8244	1683	59	4		4	KIAA1210	23	118239009	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	15942	118239009	37031551	21522	31839											
NKRF	55922	broad.mit.edu	37	chrX	118724025	118724025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactgagctgtgtcgttcaGcgtgcacacgggatttgaag	13	8	1	2	rs192991563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724025G>A	ENST00000371527.1	-	2	2015	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.L455L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	455					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGTCGTTCAGCGTGCACACG	0.428													G|||	1	0.000264901	0.0	0.0	3775	,	,		15502	0.0		0.001	False		,,,				2504	0.0					ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1363-1365)Ctg>Ttg		NFKB repressing factor							104	97	99					X																	118724025		2203	4300	6503	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724025G>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1363C>T	X.37:g.118724025G>A						NKRF_ENST00000304449.5_Silent_p.L455L|NKRF_ENST00000542113.1_Silent_p.L470L|NKRF_ENST00000487600.1_Intron	p.L455L	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2015	-			455					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1363C>T	CCDS35375.1																																																																																				0.428	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		134	352	0	0	0	1	0	134	352					A	118724025	G	A	118724025	2	1	79	1	0	0	0	0	0	0	0	1	10489	962	34	2		2	NKRF	23	118724025	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	485016	118724025	36546535	21523	31840											
NKRF	55922	broad.mit.edu	37	chrX	118724252	118724252	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agtgatcttgtaaaaacactCgacaacgccatgtgcgattt	8	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724252C>T	ENST00000371527.1	-	2	1788	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	379					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAAAAACACTCGACAACGCCA	0.383																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1135-1137)cGa>cAa		NFKB repressing factor							109	99	102					X																	118724252		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118724252C>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1136G>A	X.37:g.118724252C>T	ENSP00000360582:p.Arg379Gln					NKRF_ENST00000304449.5_Missense_Mutation_p.R379Q|NKRF_ENST00000542113.1_Missense_Mutation_p.R394Q|NKRF_ENST00000487600.1_Intron	p.R379Q	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	1788	-			379					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1136G>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642932	0.14451	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	D;D;D	0.98012	-4.66;-4.66;-4.66	5.85	1.13	0.20643	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.290936	0.36740	N	0.002436	D	0.91178	0.7221	N	0.08118	0	0.26124	N	0.980517	B	0.12013	0.005	B	0.04013	0.001	T	0.81493	-0.0908	10	0.19147	T	0.46	-1.4355	10.8277	0.46643	0.0:0.5473:0.0:0.4527	.	379	O15226	NKRF_HUMAN	Q	379;379;394	ENSP00000360582:R379Q;ENSP00000304803:R379Q;ENSP00000442308:R394Q	ENSP00000304803:R379Q	R	-	2	0	NKRF	118608280	0.262000	0.24073	0.982000	0.44146	0.998000	0.95712	0.814000	0.27239	0.141000	0.18875	0.600000	0.82982	CGA		0.383	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		19	546	0	0	0	1	0	19	546					T	118724252	C	T	118724252	3	4	79	1	0	0	0	0	1	0	0	0	10489	884	31	1	940	1	NKRF	23	118724252	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	227	118724252	36546308	21524	31841											
UPF3B	65109	broad.mit.edu	37	chrX	118972012	118972012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctgccgctctcatcttcaGgtctgcatgaaaaacaaatc	6	13	5	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118972012G>T	ENST00000276201.2	-	10	1079	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H|UPF3B_ENST00000478840.1_5'Flank	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	337	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						CTCATCTTCAGGTCTGCATGA	0.473																																						ENST00000276201.2																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						c.(1009-1011)cCt>cAt		UPF3 regulator of nonsense transcripts homolog B (yeast)							101	91	94					X																	118972012		2203	4299	6502	SO:0001583	missense	0				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:118972012G>T	AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.1010C>A	X.37:g.118972012G>T	ENSP00000276201:p.Pro337His					UPF3B_ENST00000345865.2_Missense_Mutation_p.P324H	p.P337H	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN			10	1079	-			337			Sufficient for association with EJC core.		D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Missense_Mutation	SNP	ENST00000276201.2	37	c.1010C>A	CCDS14588.1	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562328	0.13498	.	.	ENSG00000125351	ENST00000276201;ENST00000345865	T;T	0.77098	-1.06;-1.07	5.68	1.5	0.22942	.	1.350910	0.04170	N	0.324587	T	0.73651	0.3614	L	0.54323	1.7	0.09310	N	1	B;B	0.28584	0.216;0.042	B;B	0.30572	0.117;0.054	T	0.56703	-0.7935	10	0.62326	D	0.03	.	4.7105	0.12870	0.3564:0.0:0.5039:0.1397	.	324;337	Q9BZI7-2;Q9BZI7	.;REN3B_HUMAN	H	337;324	ENSP00000276201:P337H;ENSP00000245418:P324H	ENSP00000276201:P337H	P	-	2	0	UPF3B	118856040	0.010000	0.17322	0.005000	0.12908	0.050000	0.14768	0.624000	0.24462	-0.143000	0.11334	-0.212000	0.12691	CCT		0.473	UPF3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058068.1			64	532	1	0	1.48873e-21	1	1.67879e-21	64	532					T	118972012	G	T	118972012	3	4	79	1	0	0	0	0	1	0	0	0	17060	1000	35	3	449	3	UPF3B	23	118972012	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	247760	118972012	36298548	21525	31842											
AKAP14	158798	broad.mit.edu	37	chrX	119054470	119054470	+	Splice_Site	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttgtttttcttcctttgtaGaccaggaatggttcgctttc	8	8	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	ENST00000371431.3	+	7	768		c.e7-1		AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000491105.1_Splice_Site|RP3-327A19.5_ENST00000455986.1_RNA|AKAP14_ENST00000371425.4_Splice_Site	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14						spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						TTCCTTTGTAGACCAGGAATG	0.333																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.e7-1		A kinase (PRKA) anchor protein 14							113	90	98					X																	119054470		2203	4300	6503	SO:0001630	splice_region_variant	158798					cytoplasm		g.chrX:119054470G>T	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"A-kinase anchor proteins"	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.495-1G>T	X.37:g.119054470G>T						AKAP14_ENST00000491105.1_Splice_Site|AKAP14_ENST00000371423.2_Splice_Site|AKAP14_ENST00000334356.2_Splice_Site|AKAP14_ENST00000371425.4_Splice_Site		NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			7	768	+								A6NNZ0|Q86UN4|Q86UN5	Splice_Site	SNP	ENST00000371431.3	37		CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975120	0.18736	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000334356	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8915	0.79303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP14	118938498	1.000000	0.71417	0.975000	0.42487	0.075000	0.17131	5.568000	0.67385	2.136000	0.66102	0.513000	0.50165	.		0.333	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813	Intron	44	179	1	0	5.34276e-22	1	6.03513e-22	44	179					T	119054470	G	T	119054470	5	4	79	1	0	0	0	0	0	0	1	0	450	956	33	3	521	3	AKAP14	23	119054470	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	82458	119054470	36216090	21526	31843											
NKAP	79576	broad.mit.edu	37	chrX	119068457	119068457	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ataaaacttaaaaaactgacGatctgtgtttcttcttcttt	4	7	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119068457G>A	ENST00000371410.3	-	5	903	c.737C>T	c.(736-738)tCg>tTg	p.S246L	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	246	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						AAAAACTGACGATCTGTGTTT	0.289													G|||	1	0.000264901	0.0	0.0	3775	,	,		9427	0.0		0.0	False		,,,				2504	0.001					ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.e5+1		NFKB activating protein							64	64	64					X																	119068457		2203	4285	6488	SO:0001630	splice_region_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119068457G>A	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.737+1C>T	X.37:g.119068457G>A						NKAP_ENST00000477789.1_5'UTR	p.S246_splice	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			5	903	-			246			Lys-rich.|Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Splice_Site	SNP	ENST00000371410.3	37	c.737_splice	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	3.830	-0.035889	0.07497	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	3.87	1.96	0.26148	.	1.093730	0.06943	N	0.813167	T	0.09423	0.0232	N	0.19112	0.55	0.26990	N	0.965166	B;P	0.35700	0.043;0.516	B;B	0.22601	0.008;0.04	T	0.32455	-0.9906	9	.	.	.	0.1973	8.1561	0.31169	0.0:0.3212:0.5201:0.1587	.	246;246	Q8N5F7;A0PJ73	NKAP_HUMAN;.	L	246	ENSP00000360464:S246L	.	S	-	2	0	NKAP	118952485	1.000000	0.71417	0.386000	0.26170	0.002000	0.02628	1.463000	0.35277	0.224000	0.20940	-0.322000	0.08575	TCG		0.289	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	Missense_Mutation	62	278	0	0	0	1	0	62	278					A	119068457	G	A	119068457	5	1	79	1	0	0	0	0	0	0	1	0	10481	1072	37	1	530	1	NKAP	23	119068457	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	13987	119068457	36202103	21527	31844											
NKAP	79576	broad.mit.edu	37	chrX	119070262	119070262	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttggcgttcttaccaCtggagtctgtttcagaatca	10	9	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119070262C>T	ENST00000371410.3	-	4	837	c.671G>A	c.(670-672)aGt>aAt	p.S224N	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	224	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						GTTCTTACCACTGGAGTCTGT	0.348																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(670-672)aGt>aAt		NFKB activating protein							178	150	159					X																	119070262		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119070262C>T	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.671G>A	X.37:g.119070262C>T	ENSP00000360464:p.Ser224Asn					NKAP_ENST00000477789.1_5'UTR	p.S224N	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			4	837	-			224			Lys-rich.|Necessary for interaction with CIR1.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.671G>A	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268188	0.23136	.	.	ENSG00000101882	ENST00000371410	T	0.17054	2.3	5.02	4.13	0.48395	.	0.323216	0.35772	N	0.002996	T	0.19485	0.0468	L	0.33245	0.995	0.38041	D	0.935452	P;P	0.51791	0.948;0.939	P;P	0.52598	0.508;0.703	T	0.02933	-1.1092	10	0.28530	T	0.3	-6.188	10.8319	0.46665	0.0:0.9031:0.0:0.0969	.	224;224	Q8N5F7;A0PJ73	NKAP_HUMAN;.	N	224	ENSP00000360464:S224N	ENSP00000360464:S224N	S	-	2	0	NKAP	118954290	1.000000	0.71417	0.679000	0.29978	0.969000	0.65631	2.600000	0.46240	2.225000	0.72522	0.594000	0.82650	AGT		0.348	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		16	436	0	0	0	1	0	16	436					T	119070262	C	T	119070262	3	4	79	1	0	0	0	0	1	0	0	0	10481	565	20	2	600	2	NKAP	23	119070262	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1805	119070262	36200298	21528	31845											
FAM70A	55026	broad.mit.edu	37	chrX	119394785	119394785	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagggtggagagtaacggggCggtgcacttgaggaccacat	17	7	0	2	rs138279635		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119394785C>T	ENST00000309720.5	-	10	1113	c.990G>A	c.(988-990)ccG>ccA	p.P330P	TMEM255A_ENST00000440464.1_Silent_p.P222P|TMEM255A_ENST00000371352.1_Silent_p.P166P|TMEM255A_ENST00000371369.4_Silent_p.P306P	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	330	Pro-rich.					integral component of membrane (GO:0016021)		p.P330P(1)									AGTAACGGGGCGGTGCACTTG	0.527													C|||	1	0.000264901	0.0	0.0	3775	,	,		13039	0.0		0.001	False		,,,				2504	0.0					ENST00000371369.4																			1	Substitution - coding silent(1)	p.P330P(1)	lung(1)								c.(916-918)ccG>ccA		transmembrane protein 255A		C	,,	2,3833		0,2,1630,571	127	103	111		918,666,990	-0.1	1	X	dbSNP_134	111	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM70A	NM_001104544.1,NM_001104545.1,NM_017938.3	,,	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	,,	306/326,222/242,330/350	119394785	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	55026							g.chrX:119394785C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.990G>A	X.37:g.119394785C>T						TMEM255A_ENST00000309720.5_Silent_p.P330P|TMEM255A_ENST00000440464.1_Silent_p.P222P|TMEM255A_ENST00000371352.1_Silent_p.P166P	p.P306P	NM_001104544.1	NP_001098014.1					9	1144	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.918G>A	CCDS14597.1																																																																																				0.527	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		14	246	0	0	0	1	0	14	246					T	119394785	C	T	119394785	2	4	79	1	0	0	0	0	0	0	0	1	5630	755	27	1		1	FAM70A	23	119394785	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	324523	119394785	35875775	21529	31846											
FAM70A	55026	broad.mit.edu	37	chrX	119438305	119438305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacacaataagcaaagtcaCggtgacatagatggagtttc	11	7	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119438305C>T	ENST00000309720.5	-	2	223	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM255A_ENST00000440464.1_Missense_Mutation_p.V34M|TMEM255A_ENST00000371369.4_Missense_Mutation_p.V34M	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	34						integral component of membrane (GO:0016021)											AGCAAAGTCACGGTGACATAG	0.448																																						ENST00000371369.4																			0											c.(100-102)Gtg>Atg		transmembrane protein 255A							188	144	159					X																	119438305		2203	4300	6503	SO:0001583	missense	55026							g.chrX:119438305C>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.100G>A	X.37:g.119438305C>T	ENSP00000310110:p.Val34Met					TMEM255A_ENST00000309720.5_Missense_Mutation_p.V34M|TMEM255A_ENST00000440464.1_Missense_Mutation_p.V34M	p.V34M	NM_001104544.1	NP_001098014.1					2	326	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	c.100G>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225501	0.79576	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.183542	0.47093	D	0.000260	T	0.68760	0.3036	M	0.72894	2.215	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.964;0.935;0.988	T	0.71481	-0.4580	10	0.62326	D	0.03	-8.2725	17.3935	0.87439	0.0:1.0:0.0:0.0	.	34;34;34	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	M	34	ENSP00000310110:V34M;ENSP00000360420:V34M;ENSP00000405781:V34M;ENSP00000428013:V34M	ENSP00000310110:V34M	V	-	1	0	FAM70A	119322333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.261000	0.78400	2.321000	0.78463	0.600000	0.82982	GTG		0.448	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		125	370	0	0	0	1	0	125	370					T	119438305	C	T	119438305	3	4	79	1	0	0	0	0	1	0	0	0	5630	536	19	1	985	1	FAM70A	23	119438305	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	43520	119438305	35832255	21530	31847											
CUL4B	8450	broad.mit.edu	37	chrX	119668403	119668403	+	Silent	SNP	C	C	T													tcattaaacattagcagcacCagtgtttgaaaaagagagac							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668403C>T	ENST00000404115.3	-	19	2654	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	CUL4B_ENST00000371322.5_Silent_p.L733L|CUL4B_ENST00000336592.6_Silent_p.L738L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	751					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						TTAGCAGCACCAGTGTTTGAA	0.348																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2197-2199)ctG>ctA		cullin 4B							161	151	154					X																	119668403		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119668403C>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2253G>A	X.37:g.119668403C>T						CUL4B_ENST00000404115.3_Silent_p.L751L|CUL4B_ENST00000336592.6_Silent_p.L738L	p.L733L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			17	2260	-			751					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.2199G>A	CCDS35379.1																																																																																				0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		131	565	0	0	0	1	0	131	565					T	119668403	C	T	119668403	2	4	79	1	0	0	0	0	0	0	0	1	4069	581	21	2		2	CUL4B	23	119668403	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	230098	119668403	35602157	21531	31848	207	2									
CUL4B	8450	broad.mit.edu	37	chrX	119668405	119668405	+	Silent	SNP	G	G	A													attaaacattagcagcaccaGtgtttgaaaaagagagacct					rs202209674		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668405G>A	ENST00000404115.3	-	19	2652	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	CUL4B_ENST00000371322.5_Silent_p.L733L|CUL4B_ENST00000336592.6_Silent_p.L738L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	751					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						AGCAGCACCAGTGTTTGAAAA	0.343																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2197-2199)Ctg>Ttg		cullin 4B							157	148	151					X																	119668405		2203	4300	6503	SO:0001819	synonymous_variant	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119668405G>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2251C>T	X.37:g.119668405G>A						CUL4B_ENST00000404115.3_Silent_p.L751L|CUL4B_ENST00000336592.6_Silent_p.L738L	p.L733L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			17	2258	-			751					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	ENST00000404115.3	37	c.2197C>T	CCDS35379.1																																																																																				0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		23	671	0	0	0	1	0	23	671					A	119668405	G	A	119668405	2	1	79	1	0	0	0	0	0	0	0	1	4069	1020	36	2		2	CUL4B	23	119668405	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2	119668405	35602155	21532	31849	207	2									
CUL4B	8450	broad.mit.edu	37	chrX	119674407	119674407	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggattaattacaatagtgCtgccaaatgcctaaaacaaa	6	8	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119674407C>A	ENST00000404115.3	-	13	1909	c.1508G>T	c.(1507-1509)aGc>aTc	p.S503I	CUL4B_ENST00000371322.5_Missense_Mutation_p.S485I|CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	503					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						TACAATAGTGCTGCCAAATGC	0.294																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1453-1455)aGc>aTc		cullin 4B							52	48	49					X																	119674407		2201	4294	6495	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119674407C>A	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1508G>T	X.37:g.119674407C>A	ENSP00000384109:p.Ser503Ile					CUL4B_ENST00000404115.3_Missense_Mutation_p.S503I|CUL4B_ENST00000336592.6_Missense_Mutation_p.S490I	p.S485I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			11	1515	-			503	G -> D (in Ref. 4; CAD97843).				B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1454G>T	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	7.939	0.742296	0.15642	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.73575	-0.76;-0.76;-0.76	5.42	4.55	0.56014	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	L	0.33710	1.025	0.80722	D	1	B;P;P	0.35684	0.004;0.515;0.459	B;B;B	0.37015	0.015;0.239;0.154	T	0.60642	-0.7223	9	.	.	.	-10.2043	14.4351	0.67274	0.0:0.8559:0.1441:0.0	.	307;503;485	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	I	485;490;503	ENSP00000360373:S485I;ENSP00000338919:S490I;ENSP00000384109:S503I	.	S	-	2	0	CUL4B	119558435	1.000000	0.71417	0.993000	0.49108	0.116000	0.19942	5.954000	0.70298	1.055000	0.40461	-0.346000	0.07831	AGC		0.294	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		37	133	1	0	2.51541e-25	1	2.88513e-25	37	133					A	119674407	C	A	119674407	3	1	79	1	0	0	0	0	1	0	0	0	4069	797	28	3	1273	3	CUL4B	23	119674407	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	6002	119674407	35596153	21533	31850											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		7	302						7	302	---	---	---	---	-	119694119	GAG	-	119694117	7	5	79	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-IB-7651-01A-11D-2154-08	19710	119694117	35576443	21534	31851											
CT47B1	643311	broad.mit.edu	37	chrX	120009228	120009228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagttggccgcctcgttcccCtcttcctcctcctcctcttc	5	20	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120009228C>A	ENST00000371311.3	-	1	551	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	99	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						cctcgttcccctcttcctcct	0.692																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(295-297)gaG>gaT		cancer/testis antigen family 47, member B1							58	64	62					X																	120009228		692	1590	2282	SO:0001583	missense	643311							g.chrX:120009228C>A		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.297G>T	X.37:g.120009228C>A	ENSP00000360360:p.Glu99Asp						p.E99D	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	551	-			99			Poly-Glu.		A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.297G>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654063	0.29425	.	.	ENSG00000236446	ENST00000371311	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.33731	0.0873	N	0.14661	0.345	0.09310	N	1	P	0.49696	0.927	D	0.67725	0.953	T	0.29518	-1.0009	7	0.18276	T	0.48	.	.	.	.	.	99	P0C2W7	CT47B_HUMAN	D	99	.	ENSP00000360360:E99D	E	-	3	2	CT47B1	119893256	0.000000	0.05858	0.004000	0.12327	0.015000	0.08874	-3.375000	0.00493	0.177000	0.19895	0.179000	0.17066	GAG		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		34	145	1	0	3.03874e-20	1	3.40186e-20	34	145					A	120009228	C	A	120009228	3	1	79	1	0	0	0	0	1	0	0	0	4000	680	24	3	610	3	CT47B1	23	120009228	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	315111	120009228	35261332	21535	31852											
GLUD2	2747	broad.mit.edu	37	chrX	120182660	120182660	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaggaagcatcttggaggtCgactgtgacatactgatccc	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182660C>T	ENST00000328078.1	+	1	1199	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	374					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TCTTGGAGGTCGACTGTGACA	0.502																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1120-1122)gtC>gtT		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						193	171	179					X																	120182660		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182660C>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1122C>T	X.37:g.120182660C>T							p.V374V	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1199	+			374					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1122C>T	CCDS14603.1																																																																																				0.502	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		202	628	0	0	0	1	0	202	628					T	120182660	C	T	120182660	2	4	79	1	0	0	0	0	0	0	0	1	6506	871	31	1		1	GLUD2	23	120182660	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	173432	120182660	35087900	21536	31853											
GLUD2	2747	broad.mit.edu	37	chrX	120182956	120182956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgtctgttcaagagaGtttagaaagaaaatttggaa	10	5	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182956G>A	ENST00000328078.1	+	1	1495	c.1418G>A	c.(1417-1419)aGt>aAt	p.S473N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	473					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GTTCAAGAGAGTTTAGAAAGA	0.418																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1417-1419)aGt>aAt		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						155	137	143					X																	120182956		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182956G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1418G>A	X.37:g.120182956G>A	ENSP00000327589:p.Ser473Asn						p.S473N	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1495	+			473					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1418G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207067	0.58343	.	.	ENSG00000182890	ENST00000328078	D	0.96651	-4.08	2.05	2.05	0.26809	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	M	0.83118	2.625	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.96868	0.9637	10	0.62326	D	0.03	.	9.4506	0.38723	0.0:0.0:1.0:0.0	.	473	P49448	DHE4_HUMAN	N	473	ENSP00000327589:S473N	ENSP00000327589:S473N	S	+	2	0	GLUD2	120010637	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.189000	0.72051	1.080000	0.41073	0.406000	0.27484	AGT		0.418	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		137	454	0	0	0	1	0	137	454					A	120182956	G	A	120182956	3	1	79	1	0	0	0	0	1	0	0	0	6506	1029	36	2	1420	2	GLUD2	23	120182956	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	296	120182956	35087604	21537	31854											
THOC2	57187	broad.mit.edu	37	chrX	122755365	122755365	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctctggagtagtagCtggagtcttttcttttttct	10	9	4	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122755365C>A	ENST00000245838.8	-	31	3890	c.3859G>T	c.(3859-3861)Gct>Tct	p.A1287S	THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1287	Lys-rich.				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						GGAGTAGTAGCTGGAGtcttt	0.358																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3859-3861)Gct>Tct		THO complex 2							117	100	105					X																	122755365		1808	4064	5872	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122755365C>A	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.3859G>T	X.37:g.122755365C>A	ENSP00000245838:p.Ala1287Ser					THOC2_ENST00000355725.4_Missense_Mutation_p.A1287S|THOC2_ENST00000491737.1_Missense_Mutation_p.A1172S	p.A1287S	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			31	3890	-			1287			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.3859G>T	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.30|10.30	1.311160|1.311160	0.23821|0.23821	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000441692	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	5.05|5.05	3.29|3.29	0.37713|0.37713	.|.	0.182458|.	0.37437|.	N|.	0.002099|.	T|T	0.38188|0.38188	0.1031|0.1031	N|N	0.17082|0.17082	0.46|0.46	0.39160|0.39160	D|D	0.962395|0.962395	B|.	0.20368|.	0.044|.	B|.	0.19148|.	0.024|.	T|T	0.13737|0.13737	-1.0498|-1.0498	10|5	0.02654|.	T|.	1|.	-2.7332|-2.7332	9.2462|9.2462	0.37527|0.37527	0.0:0.7591:0.0:0.2409|0.0:0.7591:0.0:0.2409	.|.	1287|.	Q8NI27|.	THOC2_HUMAN|.	S|H	1287;1287;1172|54	ENSP00000245838:A1287S;ENSP00000347959:A1287S;ENSP00000419795:A1172S|.	ENSP00000245838:A1287S|.	A|Q	-|-	1|3	0|2	THOC2|THOC2	122583046|122583046	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	4.594000|4.594000	0.61041|0.61041	0.479000|0.479000	0.27511|0.27511	0.600000|0.600000	0.82982|0.82982	GCT|CAG		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			118	338	1	0	7.8952e-62	1	9.94632e-62	118	338					A	122755365	C	A	122755365	3	1	79	1	0	0	0	0	1	0	0	0	15917	797	28	3	954	3	THOC2	23	122755365	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	2572409	122755365	32515195	21538	31855											
THOC2	57187	broad.mit.edu	37	chrX	122829989	122829989	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcttaacaaattgaaTttttgctgcttataactgaa	4	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122829989T>C	ENST00000245838.8	-	7	514	c.483A>G	c.(481-483)aaA>aaG	p.K161K	THOC2_ENST00000491737.1_Silent_p.K46K|THOC2_ENST00000355725.4_Silent_p.K161K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	161					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						ACAAATTGAATTTTTGCTGCT	0.299																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(481-483)aaA>aaG		THO complex 2							58	51	53					X																	122829989		1805	4050	5855	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122829989T>C	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.483A>G	X.37:g.122829989T>C						THOC2_ENST00000355725.4_Silent_p.K161K|THOC2_ENST00000491737.1_Silent_p.K46K	p.K161K	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			7	514	-			161					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.483A>G	CCDS43988.1																																																																																				0.299	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			46	129	0	0	0	1	0	46	129					C	122829989	T	C	122829989	2	2	79	1	0	0	0	0	0	0	0	1	15917	1490	52	4		4	THOC2	23	122829989	Silent	SNP	T	TCGA-IB-7651-01A-11D-2154-08	74624	122829989	32440571	21539	31856											
ODZ1	10178	broad.mit.edu	37	chrX	123514421	123514421	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcgctctgtctcataaagtGaatattattggcactgtcag	8	8	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123514421G>T	ENST00000371130.3	-	31	8206	c.8143C>A	c.(8143-8145)Cac>Aac	p.H2715N	TENM1_ENST00000422452.2_Missense_Mutation_p.H2722N|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2715					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)										CTCATAAAGTGAATATTATTG	0.398																																						ENST00000422452.2																			0											c.(8164-8166)Cac>Aac		teneurin transmembrane protein 1							98	94	95					X																	123514421		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514421G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8143C>A	X.37:g.123514421G>T	ENSP00000360171:p.His2715Asn					TENM1_ENST00000371130.3_Missense_Mutation_p.H2715N|STAG2_ENST00000469481.1_Intron	p.H2722N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8227	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8164C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703967	0.68501	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.94	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91408	0.7289	M	0.61703	1.905	0.80722	D	1	D;D;D	0.63880	0.993;0.985;0.965	D;P;P	0.70227	0.968;0.787;0.72	D	0.91575	0.5274	10	0.59425	D	0.04	.	18.9144	0.92499	0.0:0.0:1.0:0.0	.	2721;2722;2715	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2715;2722	ENSP00000360171:H2715N;ENSP00000403954:H2722N	ENSP00000360171:H2715N	H	-	1	0	ODZ1	123342102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.414000	0.81942	0.538000	0.68166	CAC		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		83	335	1	0	4.81439e-37	1	5.77535e-37	83	335					T	123514421	G	T	123514421	3	4	79	1	0	0	0	0	1	0	0	0	10876	1290	45	3	38	3	ODZ1	23	123514421	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	684432	123514421	31756139	21540	31857											
ODZ1	10178	broad.mit.edu	37	chrX	123526164	123526164	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcgggttatatgaTcaaaatctatggagagtagg	12	5	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123526164T>C	ENST00000371130.3	-	27	5468	c.5405A>G	c.(5404-5406)gAt>gGt	p.D1802G	TENM1_ENST00000422452.2_Missense_Mutation_p.D1809G|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1802					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)										GGTTATATGATCAAAATCTAT	0.423																																						ENST00000422452.2																			0											c.(5425-5427)gAt>gGt		teneurin transmembrane protein 1							129	121	124					X																	123526164		2203	4299	6502	SO:0001583	missense	10178							g.chrX:123526164T>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5405A>G	X.37:g.123526164T>C	ENSP00000360171:p.Asp1802Gly					TENM1_ENST00000371130.3_Missense_Mutation_p.D1802G|STAG2_ENST00000469481.1_Intron	p.D1809G	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					28	5489	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5426A>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033170	0.75504	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90788	-2.73;-2.69	5.54	5.54	0.83059	.	0.099413	0.64402	D	0.000001	D	0.91540	0.7328	M	0.79123	2.44	0.58432	D	0.999998	P;P;D	0.54964	0.953;0.953;0.969	B;B;P	0.45343	0.265;0.294;0.477	D	0.92533	0.6035	10	0.87932	D	0	.	14.7475	0.69499	0.0:0.0:0.0:1.0	.	1808;1809;1802	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	1802;1809	ENSP00000360171:D1802G;ENSP00000403954:D1809G	ENSP00000360171:D1802G	D	-	2	0	ODZ1	123353845	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.258000	0.72487	1.863000	0.54032	0.486000	0.48141	GAT		0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		123	376	0	0	0	1	0	123	376					C	123526164	T	C	123526164	3	2	79	1	0	0	0	0	1	0	0	0	10876	1435	50	4	2792	4	ODZ1	23	123526164	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	11743	123526164	31744396	21541	31858											
ODZ1	10178	broad.mit.edu	37	chrX	123554207	123554207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttacttttggtagccagaaGccctgtgtttcctggatagg	12	8	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123554207G>T	ENST00000371130.3	-	24	4978	c.4915C>A	c.(4915-4917)Ctt>Att	p.L1639I	TENM1_ENST00000422452.2_Missense_Mutation_p.L1646I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1639					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)										GTAGCCAGAAGCCCTGTGTTT	0.398																																						ENST00000422452.2																			0											c.(4936-4938)Ctt>Att		teneurin transmembrane protein 1							108	100	103					X																	123554207		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123554207G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4915C>A	X.37:g.123554207G>T	ENSP00000360171:p.Leu1639Ile					TENM1_ENST00000371130.3_Missense_Mutation_p.L1639I|STAG2_ENST00000469481.1_Intron	p.L1646I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					25	4999	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4936C>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.442335	0.83993	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90676	-2.71;-2.67	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	M	0.84948	2.725	0.58432	D	0.999994	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.78314	0.978;0.991;0.979	D	0.95347	0.8443	10	0.62326	D	0.03	.	11.9263	0.52820	0.0814:0.0:0.9186:0.0	.	1645;1646;1639	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	1639;1646	ENSP00000360171:L1639I;ENSP00000403954:L1646I	ENSP00000360171:L1639I	L	-	1	0	ODZ1	123381888	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	8.042000	0.89430	2.299000	0.77371	0.553000	0.69018	CTT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		108	446	1	0	4.07178e-41	1	4.94409e-41	108	446					T	123554207	G	T	123554207	3	4	79	1	0	0	0	0	1	0	0	0	10876	971	34	3	3294	3	ODZ1	23	123554207	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	28043	123554207	31716353	21542	31859											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299095	125299095	+	Silent	SNP	G	G	A													cccagctcctggttcttgccGctgaaggccagggcccgtac					rs376171077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299095G>A	ENST00000360028.2	-	1	839	c.813C>T	c.(811-813)agC>agT	p.S271S	DCAF12L2_ENST00000538699.1_Silent_p.S271S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	271										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						GGTTCTTGCCGCTGAAGGCCA	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(811-813)agC>agT		DDB1 and CUL4 associated factor 12-like 2		G		1,3834		0,1,1631,571	47	51	49		813	-3	0.4	X		49	0,6728		0,0,2428,1872	no	coding-synonymous	DCAF12L2	NM_001013628.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		271/464	125299095	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299095G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.813C>T	X.37:g.125299095G>A						DCAF12L2_ENST00000360028.2_Silent_p.S271S	p.S271S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	893	-			271					B2RN42	Silent	SNP	ENST00000360028.2	37	c.813C>T	CCDS43991.1																																																																																				0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		83	289	0	0	0	1	0	83	289					A	125299095	G	A	125299095	2	1	79	1	0	0	0	0	0	0	0	1	4276	1078	38	1		1	DCAF12L2	23	125299095	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1744888	125299095	29971465	21543	31860	208	2									
DCAF12L2	340578	broad.mit.edu	37	chrX	125299102	125299102	+	Missense_Mutation	SNP	G	G	A													cctggttcttgccgctgaagGccagggcccgtaccttgcgg							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299102G>A	ENST00000360028.2	-	1	832	c.806C>T	c.(805-807)gCc>gTc	p.A269V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.A269V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										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						GCCGCTGAAGGCCAGGGCCCG	0.637																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(805-807)gCc>gTc		DDB1 and CUL4 associated factor 12-like 2							44	48	47					X																	125299102		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299102G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.806C>T	X.37:g.125299102G>A	ENSP00000353128:p.Ala269Val					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A269V	p.A269V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	886	-			269					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.806C>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666061	0.67700	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	3.72	2.81	0.32909	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36134	N	0.002769	T	0.76026	0.3930	M	0.66939	2.045	0.35993	D	0.836822	D	0.89917	1.0	D	0.83275	0.996	T	0.78768	-0.2075	10	0.51188	T	0.08	.	7.8955	0.29704	0.0:0.2492:0.7508:0.0	.	269	Q5VW00	DC122_HUMAN	V	269	ENSP00000441489:A269V;ENSP00000353128:A269V	ENSP00000353128:A269V	A	-	2	0	DCAF12L2	125126783	1.000000	0.71417	0.930000	0.37139	0.970000	0.65996	8.043000	0.89432	0.876000	0.35872	0.544000	0.68410	GCC		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		79	286	0	0	0	1	0	79	286					A	125299102	G	A	125299102	3	1	79	1	0	0	0	0	1	0	0	0	4276	1203	42	2	589	2	DCAF12L2	23	125299102	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	7	125299102	29971458	21544	31861	208	2									
SMARCA1	6594	broad.mit.edu	37	chrX	128582342	128582342	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttgcccgtttcttcttttCtgctctctctctttcctcaa	4	14	6	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128582342C>A	ENST00000371122.4	-	24	3238	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	1037					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTCTTTTCTGCTCTCTCT	0.313																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(3109-3111)Gaa>Taa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							145	134	138					X																	128582342		2203	4297	6500	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128582342C>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.3109G>T	X.37:g.128582342C>A	ENSP00000360163:p.Glu1037*					SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E1025*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E1025*	p.E1037*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			24	3238	-			1037					Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.3109G>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403897	0.98262	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-21.9902	19.3889	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	X	1025;1025;1037	.	ENSP00000360162:E1025X	E	-	1	0	SMARCA1	128410023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.177000	0.71961	2.618000	0.88619	0.600000	0.82982	GAA		0.313	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		82	266	1	0	4.03997e-35	1	4.81766e-35	82	266					A	128582342	C	A	128582342	4	1	79	1	0	0	0	0	0	1	0	0	14818	922	32	3	59	3	SMARCA1	23	128582342	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	3283240	128582342	26688218	21545	31862											
OCRL	4952	broad.mit.edu	37	chrX	128691392	128691392	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgaagttcctctcagCtgtccttgctgctcagaaag	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128691392C>T	ENST00000371113.4	+	5	494	c.329C>T	c.(328-330)gCt>gTt	p.A110V	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	110	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCTCTCAGCTGTCCTTGCT	0.463																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(328-330)gCt>gTt		oculocerebrorenal syndrome of Lowe							87	78	81					X																	128691392		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128691392C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.329C>T	X.37:g.128691392C>T	ENSP00000360154:p.Ala110Val					OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.A110V	p.A110V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			5	494	+			110					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.329C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949666	0.53186	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94138	-3.36;-3.36	5.32	4.14	0.48551	.	0.616585	0.17225	N	0.182195	D	0.85089	0.5617	N	0.08118	0	0.25635	N	0.986265	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.76310	-0.3006	10	0.87932	D	0	.	10.5884	0.45296	0.8376:0.1624:0.0:0.0	.	110;110	Q01968-2;Q01968	.;OCRL_HUMAN	V	110	ENSP00000360154:A110V;ENSP00000349635:A110V	ENSP00000349635:A110V	A	+	2	0	OCRL	128519073	0.998000	0.40836	0.998000	0.56505	0.976000	0.68499	4.413000	0.59795	0.667000	0.31107	-0.328000	0.08392	GCT		0.463	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		35	124	0	0	0	1	0	35	124					T	128691392	C	T	128691392	3	4	79	1	0	0	0	0	1	0	0	0	10865	797	28	2	347	2	OCRL	23	128691392	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	109050	128691392	26579168	21546	31863											
XPNPEP2	7512	broad.mit.edu	37	chrX	128880624	128880624	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgagattcctgctggagggCgtgtgggttttgaccccttc	14	11	0	2	rs199567476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128880624C>T	ENST00000371106.3	+	6	649	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	153						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						TGCTGGAGGGCGTGTGGGTTT	0.522																																						ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(457-459)Cgt>Tgt		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							270	243	252					X																	128880624		2203	4299	6502	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128880624C>T	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.457C>T	X.37:g.128880624C>T	ENSP00000360147:p.Arg153Cys					XPNPEP2_ENST00000371105.3_Missense_Mutation_p.R153C	p.R153C	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			6	649	+			153					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.457C>T	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464311	0.43736	.	.	ENSG00000122121	ENST00000371105;ENST00000371106	T	0.75938	-0.98	5.57	-1.49	0.08718	Creatinase (1);	1.196100	0.05649	N	0.584917	T	0.72898	0.3518	L	0.46947	1.48	0.09310	N	1	P;D	0.62365	0.883;0.991	B;P	0.54100	0.209;0.742	T	0.60393	-0.7272	10	0.52906	T	0.07	-10.3433	3.1445	0.06467	0.3281:0.4451:0.1041:0.1227	.	153;153	B4DV70;O43895	.;XPP2_HUMAN	C	153	ENSP00000360147:R153C	ENSP00000360146:R153C	R	+	1	0	XPNPEP2	128708305	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.091000	0.11146	-0.347000	0.08299	-1.916000	0.00518	CGT		0.522	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		15	731	0	0	0	1	0	15	731					T	128880624	C	T	128880624	3	4	79	1	0	0	0	0	1	0	0	0	17497	768	27	1	479	1	XPNPEP2	23	128880624	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	189232	128880624	26389936	21547	31864											
UTP14A	10813	broad.mit.edu	37	chrX	129045772	129045772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagtagcattcaataaaaccGcacaagtcctctccaaatgg	6	11	2	0	rs150155910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129045772G>A	ENST00000394422.3	+	6	440	c.412G>A	c.(412-414)Gca>Aca	p.A138T	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron|UTP14A_ENST00000371042.3_5'Flank|UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	138					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAATAAAACCGCACAAGTCCT	0.498																																						ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(412-414)Gca>Aca		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)		T	,THR/ALA	0,3835		0,0,1632,571	133	125	127		,412	2.9	0.5	X	dbSNP_134	127	1,6727		0,1,2427,1872	no	intron,missense	UTP14A	NM_001166221.1,NM_006649.3	,58	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,benign	,138/772	129045772	1,10562	2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129045772G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.412G>A	X.37:g.129045772G>A	ENSP00000377944:p.Ala138Thr					UTP14A_ENST00000371051.5_Missense_Mutation_p.A84T|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Intron	p.A138T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			6	440	+			138					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.412G>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304624	0.23736	0.0	1.49E-4	ENSG00000156697	ENST00000394422;ENST00000371051	T;T	0.16743	2.32;2.32	5.43	2.94	0.34122	.	0.228441	0.45361	N	0.000376	T	0.07908	0.0198	N	0.05230	-0.09	0.80722	D	1	B;B	0.14012	0.009;0.004	B;B	0.11329	0.006;0.006	T	0.22765	-1.0207	10	0.46703	T	0.11	-1.01	7.5144	0.27592	0.1322:0.0:0.2762:0.5917	.	84;138	F8WD00;Q9BVJ6	.;UT14A_HUMAN	T	138;84	ENSP00000377944:A138T;ENSP00000360090:A84T	ENSP00000360090:A84T	A	+	1	0	UTP14A	128873453	0.735000	0.28153	0.456000	0.27044	0.158000	0.22134	0.575000	0.23729	0.202000	0.20498	-0.825000	0.03093	GCA		0.498	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		184	581	0	0	0	1	0	184	581					A	129045772	G	A	129045772	3	1	79	1	0	0	0	0	1	0	0	0	17149	1087	38	1	434	1	UTP14A	23	129045772	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	165148	129045772	26224788	21548	31865											
UTP14A	10813	broad.mit.edu	37	chrX	129060260	129060260	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaagaaaagataagaAtttgccaaatgtgattatca	6	7	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129060260A>G	ENST00000394422.3	+	14	2016	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S|UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	663					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAGATAAGAATTTGCCAAAT	0.448											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1987-1989)aAt>aGt		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							80	77	78					X																	129060260		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129060260A>G	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"serologically defined colon cancer antigen 16"	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1988A>G	X.37:g.129060260A>G	ENSP00000377944:p.Asn663Ser		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	UTP14A_ENST00000371051.5_Missense_Mutation_p.N609S|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.N611S|UTP14A_ENST00000371042.3_Missense_Mutation_p.N495S	p.N663S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			14	2016	+			663					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1988A>G	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.031633	0.35797	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	6.08	1.95	0.26073	.	0.752025	0.14031	N	0.346157	T	0.32164	0.0820	M	0.85630	2.765	0.25957	N	0.982674	B;P;B	0.52170	0.151;0.951;0.052	B;P;B	0.54544	0.059;0.755;0.063	T	0.11518	-1.0584	10	0.36615	T	0.2	-7.9233	5.202	0.15269	0.6379:0.0:0.229:0.1331	.	609;611;663	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	S	611;663;609;495	ENSP00000388669:N611S;ENSP00000377944:N663S;ENSP00000360090:N609S;ENSP00000360081:N495S	ENSP00000360081:N495S	N	+	2	0	UTP14A	128887941	0.904000	0.30761	0.994000	0.49952	0.989000	0.77384	1.502000	0.35704	0.346000	0.23899	0.486000	0.48141	AAT		0.448	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		97	264	0	0	0	1	0	97	264					G	129060260	A	G	129060260	3	3	79	1	0	0	0	0	1	0	0	0	17149	101	4	4	2042	4	UTP14A	23	129060260	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	14488	129060260	26210300	21549	31866											
AIFM1	9131	broad.mit.edu	37	chrX	129263959	129263959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctaccttccttgctattgGcattcggttaaagatgttcc	7	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129263959G>A	ENST00000287295.3	-	15	1986	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	586					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CTTGCTATTGGCATTCGGTTA	0.507																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(1756-1758)Cca>Tca		apoptosis-inducing factor, mitochondrion-associated, 1							157	130	139					X																	129263959		2203	4300	6503	SO:0001583	missense	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129263959G>A	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1756C>T	X.37:g.129263959G>A	ENSP00000287295:p.Pro586Ser					AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000440263.1_Missense_Mutation_p.P234S|AIFM1_ENST00000346424.2_Missense_Mutation_p.P299S|AIFM1_ENST00000460436.2_Missense_Mutation_p.P247S|AIFM1_ENST00000319908.3_Missense_Mutation_p.P582S	p.P586S	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			15	1986	-			586					A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	37	c.1756C>T	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842653	0.32606	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;D;T;T	0.82255	1.06;1.05;-1.59;1.06;-0.59	4.94	3.03	0.35002	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (1);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	L	0.42487	1.325	0.80722	D	1	B;P;P	0.42941	0.057;0.747;0.794	B;B;B	0.38020	0.026;0.263;0.135	T	0.69602	-0.5101	10	0.27082	T	0.32	-8.0288	10.8515	0.46773	0.0:0.1371:0.7176:0.1453	.	299;582;586	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	S	247;299;582;234;586	ENSP00000431222:P247S;ENSP00000316320:P299S;ENSP00000315122:P582S;ENSP00000405879:P234S;ENSP00000287295:P586S	ENSP00000287295:P586S	P	-	1	0	AIFM1	129091640	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.429000	0.80309	1.028000	0.39785	0.600000	0.82982	CCA		0.507	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			192	640	0	0	0	1	0	192	640					A	129263959	G	A	129263959	3	1	79	1	0	0	0	0	1	0	0	0	426	1203	42	2	93	2	AIFM1	23	129263959	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	203699	129263959	26006601	21550	31867											
RAB33A	9363	broad.mit.edu	37	chrX	129318474	129318474	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgtgacttgagggaacaGatccaggtgccctccaactt	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129318474G>T	ENST00000257017.4	+	2	888	c.474G>T	c.(472-474)caG>caT	p.Q158H		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	158					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAGGGAACAGATCCAGGTGC	0.522																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(472-474)caG>caT		RAB33A, member RAS oncogene family							129	96	107					X																	129318474		2203	4300	6503	SO:0001583	missense	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318474G>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.474G>T	X.37:g.129318474G>T	ENSP00000257017:p.Gln158His						p.Q158H	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	888	+			158					Q5JUZ6|Q92465	Missense_Mutation	SNP	ENST00000257017.4	37	c.474G>T	CCDS14621.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222487	0.58668	.	.	ENSG00000134594	ENST00000257017	T	0.78126	-1.15	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.170222	0.52532	D	0.000071	T	0.77837	0.4190	L	0.39245	1.2	0.45541	D	0.998494	P	0.52170	0.951	P	0.53450	0.726	T	0.80153	-0.1501	10	0.87932	D	0	-11.242	11.1761	0.48601	0.0869:0.0:0.9131:0.0	.	158	Q14088	RB33A_HUMAN	H	158	ENSP00000257017:Q158H	ENSP00000257017:Q158H	Q	+	3	2	RAB33A	129146155	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	1.430000	0.34914	2.076000	0.62316	0.436000	0.28706	CAG		0.522	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		62	269	1	0	8.81991e-31	1	1.03612e-30	62	269					T	129318474	G	T	129318474	3	4	79	1	0	0	0	0	1	0	0	0	12972	933	33	3	480	3	RAB33A	23	129318474	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	54515	129318474	25952086	21551	31868											
RBMX2	51634	broad.mit.edu	37	chrX	129546425	129546425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttcgtcacccagacGcaagacagtaaaggaaaagg	9	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129546425G>A	ENST00000305536.6	+	6	636	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	191	Lys-rich.						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						TCACCCAGACGCAAGACAGTA	0.488																																						ENST00000305536.6																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(571-573)cGc>cAc		RNA binding motif protein, X-linked 2							55	55	55					X																	129546425		1960	4131	6091	SO:0001583	missense	51634						nucleotide binding|RNA binding	g.chrX:129546425G>A	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.572G>A	X.37:g.129546425G>A	ENSP00000339090:p.Arg191His						p.R191H	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN			6	636	+			191			Lys-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Missense_Mutation	SNP	ENST00000305536.6	37	c.572G>A	CCDS43993.1	.	.	.	.	.	.	.	.	.	.	G	5.481	0.273812	0.10403	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	T	0.12984	2.63	4.31	1.46	0.22682	.	0.761838	0.13093	N	0.414413	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.01281	0.0	T	0.33854	-0.9852	10	0.48119	T	0.1	.	2.6917	0.05122	0.2525:0.0:0.5178:0.2297	.	191	Q9Y388	RBMX2_HUMAN	H	191	ENSP00000339090:R191H	ENSP00000339090:R191H	R	+	2	0	RBMX2	129374106	0.006000	0.16342	0.278000	0.24718	0.031000	0.12232	0.308000	0.19314	0.358000	0.24211	0.600000	0.82982	CGC		0.488	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		79	362	0	0	0	1	0	79	362					A	129546425	G	A	129546425	3	1	79	1	0	0	0	0	1	0	0	0	13202	1087	38	1	594	1	RBMX2	23	129546425	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	227951	129546425	25724135	21552	31869											
ENOX2	10495	broad.mit.edu	37	chrX	129771328	129771328	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcattccggtaggcatcgaGctgccaacggaggctgtcat	12	11	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129771328G>T	ENST00000370927.1	-	9	1294	c.1273C>A	c.(1273-1275)Ctc>Atc	p.L425I	ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I|ENOX2_ENST00000338144.3_Missense_Mutation_p.L425I			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	425					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)	p.L425I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TAGGCATCGAGCTGCCAACGG	0.428																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			1	Substitution - Missense(1)	p.L425I(1)	endometrium(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(1273-1275)Ctc>Atc		ecto-NOX disulfide-thiol exchanger 2							240	188	206					X																	129771328		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129771328G>T	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1273C>A	X.37:g.129771328G>T	ENSP00000359965:p.Leu425Ile					ENOX2_ENST00000394363.1_Missense_Mutation_p.L396I|ENOX2_ENST00000370927.1_Missense_Mutation_p.L425I|ENOX2_ENST00000370935.1_Missense_Mutation_p.L396I	p.L425I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			12	1690	-			425					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1273C>A	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622491	0.66787	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.30448	1.53;1.53	5.09	4.19	0.49359	.	0.077113	0.53938	D	0.000052	T	0.38134	0.1029	M	0.73217	2.22	0.47659	D	0.999484	P;P	0.38020	0.615;0.615	B;B	0.43082	0.407;0.407	T	0.20672	-1.0268	9	.	.	.	-9.705	12.2879	0.54803	0.0:0.1667:0.8333:0.0	.	425;453	Q16206;A4QPE1	ENOX2_HUMAN;.	I	396;396;425;396;453;425	ENSP00000337146:L425I;ENSP00000359965:L425I	.	L	-	1	0	ENOX2	129599009	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.113000	0.64640	2.345000	0.79718	0.600000	0.82982	CTC		0.428	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		171	496	1	0	1.07678e-90	1	1.38253e-90	171	496					T	129771328	G	T	129771328	3	4	79	1	0	0	0	0	1	0	0	0	5145	971	34	3	579	3	ENOX2	23	129771328	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	224903	129771328	25499232	21553	31870											
ENOX2	10495	broad.mit.edu	37	chrX	129801587	129801587	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgggcagctttctcgttcAccaggcggcggacatggctg	14	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129801587A>G	ENST00000370927.1	-	6	932	c.911T>C	c.(910-912)gTg>gCg	p.V304A	ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A|ENOX2_ENST00000338144.3_Missense_Mutation_p.V304A			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	304					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						TTTCTCGTTCACCAGGCGGCG	0.502																																					Ovarian(101;828 1506 2951 9500 35258)	ENST00000338144.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						c.(910-912)gTg>gCg		ecto-NOX disulfide-thiol exchanger 2							212	195	201					X																	129801587		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129801587A>G	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.911T>C	X.37:g.129801587A>G	ENSP00000359965:p.Val304Ala					ENOX2_ENST00000394363.1_Missense_Mutation_p.V275A|ENOX2_ENST00000370927.1_Missense_Mutation_p.V304A|ENOX2_ENST00000370935.1_Missense_Mutation_p.V275A	p.V304A	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN			9	1328	-			304					A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.911T>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.230892	0.39399	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T	0.28666	1.6;1.6	5.17	5.17	0.71159	.	0.352395	0.29868	N	0.010999	T	0.18467	0.0443	N	0.14661	0.345	0.29624	N	0.846001	B;B	0.21753	0.033;0.06	B;B	0.24006	0.034;0.05	T	0.13150	-1.0520	9	.	.	.	-14.955	11.7708	0.51958	1.0:0.0:0.0:0.0	.	304;332	Q16206;A4QPE1	ENOX2_HUMAN;.	A	275;275;304;275;332;304;275	ENSP00000337146:V304A;ENSP00000359965:V304A	.	V	-	2	0	ENOX2	129629268	0.999000	0.42202	0.973000	0.42090	0.931000	0.56810	4.650000	0.61440	1.908000	0.55244	0.481000	0.45027	GTG		0.502	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1	NM_182314		18	1168	0	0	0	1	0	18	1168					G	129801587	A	G	129801587	3	3	79	1	0	0	0	0	1	0	0	0	5145	159	6	4	953	4	ENOX2	23	129801587	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	30259	129801587	25468973	21554	31871											
IGSF1	3547	broad.mit.edu	37	chrX	130409168	130409168	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caacaggacaaatgttgagtCtggcagttccccttgacact	9	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130409168C>A	ENST00000361420.3	-	17	3356	c.3277G>T	c.(3277-3279)Gac>Tac	p.D1093Y	IGSF1_ENST00000370904.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1093	Ig-like C2-type 11.				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						AATGTTGAGTCTGGCAGTTCC	0.557																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3250-3252)Gac>Tac		immunoglobulin superfamily, member 1							132	132	132					X																	130409168		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409168C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3277G>T	X.37:g.130409168C>A	ENSP00000355010:p.Asp1093Tyr					IGSF1_ENST00000370910.1_Missense_Mutation_p.D1084Y|IGSF1_ENST00000370903.3_Missense_Mutation_p.D1098Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.D1093Y	p.D1084Y			Q8N6C5	IGSF1_HUMAN			23	4160	-			1093			Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3250G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.838615	0.00573	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02812	4.15;4.15;4.15;4.15	4.83	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.616837	0.16303	N	0.220364	T	0.03695	0.0105	N	0.05467	-0.045	0.31995	N	0.604081	D;D;D	0.89917	0.998;0.993;1.0	D;D;D	0.87578	0.984;0.924;0.998	T	0.10382	-1.0632	10	0.02654	T	1	.	8.2379	0.31638	0.0:0.8894:0.0:0.1106	.	1084;537;1093	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Y	1084;1093;1084;1098	ENSP00000359947:D1084Y;ENSP00000355010:D1093Y;ENSP00000359941:D1084Y;ENSP00000359940:D1098Y	ENSP00000355010:D1093Y	D	-	1	0	IGSF1	130236849	1.000000	0.71417	0.994000	0.49952	0.029000	0.11900	1.162000	0.31786	1.152000	0.42452	-0.215000	0.12644	GAC		0.557	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			263	818	1	0	8.53533e-96	1	1.09695e-95	263	818					A	130409168	C	A	130409168	3	1	79	1	0	0	0	0	1	0	0	0	7626	913	32	3	749	3	IGSF1	23	130409168	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	607581	130409168	24861392	21555	31872											
IGSF1	3547	broad.mit.edu	37	chrX	130412536	130412536	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgggtcagggcgccaAgggggaaggcagcccggacc	19	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130412536A>C	ENST00000361420.3	-	12	2019	c.1940T>G	c.(1939-1941)cTt>cGt	p.L647R	IGSF1_ENST00000370904.1_Missense_Mutation_p.L638R|IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R|IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	647	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGGCGCCAAGGGGGAAGGC	0.632																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1912-1914)cTt>cGt		immunoglobulin superfamily, member 1							54	55	55					X																	130412536		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130412536A>C	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.1940T>G	X.37:g.130412536A>C	ENSP00000355010:p.Leu647Arg					IGSF1_ENST00000370910.1_Missense_Mutation_p.L638R|IGSF1_ENST00000370903.3_Missense_Mutation_p.L652R|IGSF1_ENST00000361420.3_Missense_Mutation_p.L647R	p.L638R			Q8N6C5	IGSF1_HUMAN			18	2823	-			647			Ig-like C2-type 6.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1913T>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	a	17.30	3.354157	0.61293	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01092	5.35;5.35;5.35;5.35	5.09	5.09	0.68999	Immunoglobulin-like fold (1);	0.000000	0.34853	N	0.003622	T	0.06050	0.0157	M	0.78285	2.405	0.32560	N	0.531231	P;D;D	0.71674	0.672;0.998;0.97	P;D;P	0.74023	0.758;0.982;0.857	T	0.01993	-1.1233	10	0.87932	D	0	.	10.4656	0.44604	1.0:0.0:0.0:0.0	.	638;91;647	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	638;647;638;652	ENSP00000359947:L638R;ENSP00000355010:L647R;ENSP00000359941:L638R;ENSP00000359940:L652R	ENSP00000355010:L647R	L	-	2	0	IGSF1	130240217	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	4.481000	0.60250	1.810000	0.52873	0.483000	0.47432	CTT		0.632	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			135	387	0	0	0	1	0	135	387					C	130412536	A	C	130412536	3	2	79	1	0	0	0	0	1	0	0	0	7626	72	3	4	2106	4	IGSF1	23	130412536	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3368	130412536	24858024	21556	31873											
IGSF1	3547	broad.mit.edu	37	chrX	130415855	130415855	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atactcggcactgaagggtgAtggcctttcctagcttgaac	11	10	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130415855A>G	ENST00000361420.3	-	8	1389	c.1310T>C	c.(1309-1311)aTc>aCc	p.I437T	IGSF1_ENST00000370904.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	437	Ig-like C2-type 5.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAAGGGTGATGGCCTTTCC	0.473																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1282-1284)aTc>aCc		immunoglobulin superfamily, member 1							89	74	79					X																	130415855		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130415855A>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1310T>C	X.37:g.130415855A>G	ENSP00000355010:p.Ile437Thr					IGSF1_ENST00000370910.1_Missense_Mutation_p.I428T|IGSF1_ENST00000370903.3_Missense_Mutation_p.I437T|IGSF1_ENST00000361420.3_Missense_Mutation_p.I437T	p.I428T			Q8N6C5	IGSF1_HUMAN			14	2193	-			437			Ig-like C2-type 5.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1283T>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318945	0.41096	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00776	5.71;5.71;5.71;5.71	4.21	3.04	0.35103	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.531595	0.17345	N	0.177610	T	0.01695	0.0054	L	0.28556	0.865	0.23144	N	0.998223	D;D	0.60160	0.981;0.987	D;D	0.72982	0.92;0.979	T	0.51756	-0.8665	10	0.87932	D	0	.	5.4452	0.16531	0.8738:0.0:0.1262:0.0	.	428;437	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	T	428;437;428;437	ENSP00000359947:I428T;ENSP00000355010:I437T;ENSP00000359941:I428T;ENSP00000359940:I437T	ENSP00000355010:I437T	I	-	2	0	IGSF1	130243536	0.999000	0.42202	0.605000	0.28930	0.663000	0.39108	2.733000	0.47360	0.761000	0.33130	0.481000	0.45027	ATC		0.473	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			61	218	0	0	0	1	0	61	218					G	130415855	A	G	130415855	3	3	79	1	0	0	0	0	1	0	0	0	7626	333	12	4	2767	4	IGSF1	23	130415855	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	3319	130415855	24854705	21557	31874											
FRMD7	90167	broad.mit.edu	37	chrX	131228097	131228097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgagataccatcaacgCtgtacagttgtcactgcatg	10	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131228097C>T	ENST00000298542.4	-	5	530	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	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)					ACCATCAACGCTGTACAGTTG	0.443																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(355-357)Gcg>Acg		FERM domain containing 7							204	168	180					X																	131228097		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131228097C>T	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.355G>A	X.37:g.131228097C>T	ENSP00000298542:p.Ala119Thr					FRMD7_ENST00000464296.1_Missense_Mutation_p.A104T|FRMD7_ENST00000370879.1_5'UTR	p.A119T	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			5	530	-	Acute lymphoblastic leukemia(192;0.000127)		119			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.355G>A	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077177	0.94000	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.78246	-1.16;-1.16	5.13	5.13	0.70059	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	0.88164	0.6363	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89541	0.3792	10	0.66056	D	0.02	.	16.8125	0.85724	0.0:1.0:0.0:0.0	.	104;119	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	T	119;104	ENSP00000298542:A119T;ENSP00000417996:A104T	ENSP00000298542:A119T	A	-	1	0	FRMD7	131055778	1.000000	0.71417	0.991000	0.47740	0.960000	0.62799	5.685000	0.68204	2.262000	0.75019	0.529000	0.55759	GCG		0.443	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		117	505	0	0	0	1	0	117	505					T	131228097	C	T	131228097	3	4	79	1	0	0	0	0	1	0	0	0	6082	797	28	2	1821	2	FRMD7	23	131228097	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	812242	131228097	24042463	21558	31875											
RAP2C	57826	broad.mit.edu	37	chrX	131348212	131348212	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttctttactggacgacacaaGttgtacaacactgatcttgc	7	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131348212G>T	ENST00000342983.2	-	3	1282	c.536C>A	c.(535-537)aCt>aAt	p.T179N	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	179					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GACGACACAAGTTGTACAACA	0.403																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(535-537)aCt>aAt		RAP2C, member of RAS oncogene family							104	87	93					X																	131348212		2203	4299	6502	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131348212G>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.536C>A	X.37:g.131348212G>T	ENSP00000340274:p.Thr179Asn					RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.T179N	p.T179N	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			3	1282	-	Acute lymphoblastic leukemia(192;0.000127)		179					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.536C>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465942	0.63625	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.66638	-0.22;-0.22	5.75	5.75	0.90469	.	0.153294	0.64402	D	0.000016	T	0.52354	0.1729	N	0.12746	0.255	0.51767	D	0.999935	B	0.19583	0.037	B	0.12156	0.007	T	0.46289	-0.9202	10	0.41790	T	0.15	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	179	Q9Y3L5	RAP2C_HUMAN	N	179	ENSP00000340274:T179N;ENSP00000359911:T179N	ENSP00000340274:T179N	T	-	2	0	RAP2C	131175893	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.424000	0.97464	2.423000	0.82170	0.550000	0.68814	ACT		0.403	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		54	233	1	0	7.89702e-26	1	9.07718e-26	54	233					T	131348212	G	T	131348212	3	4	79	1	0	0	0	0	1	0	0	0	13092	1029	36	3	19	3	RAP2C	23	131348212	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	120115	131348212	23922348	21559	31876											
GPC4	2239	broad.mit.edu	37	chrX	132445370	132445370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagtagttgtaacatgGcttcacagtcacgagacccc	10	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132445370G>A	ENST00000370828.3	-	4	1317	c.793C>T	c.(793-795)Cca>Tca	p.P265S	GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	265					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTGTAACATGGCTTCACAGTC	0.468																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)Cca>Tca		glypican 4							165	151	156					X																	132445370		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132445370G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.793C>T	X.37:g.132445370G>A	ENSP00000359864:p.Pro265Ser					GPC4_ENST00000535467.1_Missense_Mutation_p.P195S	p.P265S	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			4	1317	-	Acute lymphoblastic leukemia(192;0.000127)		265					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.793C>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554225	0.86231	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.61040	0.14;0.14	5.61	5.61	0.85477	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	D	0.63283	0.913	D	0.83379	0.0011	10	0.72032	D	0.01	-6.6642	17.5641	0.87914	0.0:0.0:1.0:0.0	.	265	O75487	GPC4_HUMAN	S	265;259;195	ENSP00000359864:P265S;ENSP00000444959:P195S	ENSP00000359864:P265S	P	-	1	0	GPC4	132273036	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.629000	0.74267	2.363000	0.80096	0.600000	0.82982	CCA		0.468	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		152	536	0	0	0	1	0	152	536					A	132445370	G	A	132445370	3	1	79	1	0	0	0	0	1	0	0	0	6629	1203	42	2	901	2	GPC4	23	132445370	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1097158	132445370	22825190	21560	31877											
GPC3	2719	broad.mit.edu	37	chrX	132833993	132833993	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tactttcttgtcaataaagaGatcttcaggataataagcag	7	6	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132833993G>T	ENST00000370818.3	-	4	1541	c.1096C>A	c.(1096-1098)Ctc>Atc	p.L366I	GPC3_ENST00000543339.1_Missense_Mutation_p.L312I|GPC3_ENST00000394299.2_Missense_Mutation_p.L389I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	366					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCAATAAAGAGATCTTCAGGA	0.333			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(1096-1098)Ctc>Atc		glypican 3							77	72	74					X																	132833993		2203	4296	6499	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132833993G>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1096C>A	X.37:g.132833993G>T	ENSP00000359854:p.Leu366Ile					GPC3_ENST00000543339.1_Missense_Mutation_p.L312I|GPC3_ENST00000394299.2_Missense_Mutation_p.L389I	p.L366I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			4	1541	-	Acute lymphoblastic leukemia(192;0.000127)		366					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.1096C>A	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205259	0.22205	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50001	0.76;0.76;0.76	5.3	3.51	0.40186	.	0.363857	0.25408	N	0.030900	T	0.32164	0.0820	L	0.36672	1.1	0.27451	N	0.95343	B;P;B;B	0.39862	0.434;0.692;0.409;0.156	B;B;B;B	0.36030	0.216;0.164;0.216;0.216	T	0.10894	-1.0610	10	0.21540	T	0.41	.	8.4759	0.33012	0.2516:0.0:0.7484:0.0	.	350;312;389;366	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	I	366;389;312	ENSP00000359854:L366I;ENSP00000377836:L389I;ENSP00000444222:L312I	ENSP00000359854:L366I	L	-	1	0	GPC3	132661659	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.998000	0.49465	1.008000	0.39264	0.436000	0.28706	CTC		0.333	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		75	282	1	0	5.6417e-52	1	7.01162e-52	75	282					T	132833993	G	T	132833993	3	4	79	1	0	0	0	0	1	0	0	0	6628	942	33	3	666	3	GPC3	23	132833993	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	388623	132833993	22436567	21561	31878											
GPC3	2719	broad.mit.edu	37	chrX	132887781	132887781	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacattctggtgagcattcGgccacagtccttactgaact	8	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132887781G>A	ENST00000370818.3	-	3	1205	c.760C>T	c.(760-762)Cga>Tga	p.R254*	GPC3_ENST00000543339.1_Nonsense_Mutation_p.R200*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.R254*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	254					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.R254*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTGAGCATTCGGCCACAGTCC	0.483			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			1	Substitution - Nonsense(1)	p.R254*(1)	breast(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	GRCh37	CM073109	GPC3	M		c.(760-762)Cga>Tga		glypican 3							614	391	467					X																	132887781		2203	4300	6503	SO:0001587	stop_gained	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887781G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.760C>T	X.37:g.132887781G>A	ENSP00000359854:p.Arg254*					GPC3_ENST00000543339.1_Nonsense_Mutation_p.R200*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.R254*	p.R254*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	1205	-	Acute lymphoblastic leukemia(192;0.000127)		254					C9JLE3|G3V1R0|Q2L880|Q2L882	Nonsense_Mutation	SNP	ENST00000370818.3	37	c.760C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	40	8.416277	0.98801	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9614	0.58460	0.0:0.0:0.8388:0.1612	.	.	.	.	X	254;254;200	.	ENSP00000359854:R254X	R	-	1	2	GPC3	132715447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.092000	0.71414	2.455000	0.83008	0.594000	0.82650	CGA		0.483	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		11	623	0	0	0	1	0	11	623					A	132887781	G	A	132887781	4	1	79	1	0	0	0	0	0	1	0	0	6628	1124	39	1	1079	1	GPC3	23	132887781	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	53788	132887781	22382779	21562	31879											
PLAC1	10761	broad.mit.edu	37	chrX	133700087	133700087	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatcacatggacccaAtcatatcatctgtgtgaaga	9	9	4	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:133700087A>C	ENST00000359237.4	-	3	911	c.626T>G	c.(625-627)aTt>aGt	p.I209S	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)					CATGGACCCAATCATATCATC	0.448																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(625-627)aTt>aGt		placenta-specific 1							87	83	84					X																	133700087		2203	4300	6503	SO:0001583	missense	10761				placenta development	extracellular region		g.chrX:133700087A>C	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.626T>G	X.37:g.133700087A>C	ENSP00000352173:p.Ile209Ser					PLAC1_ENST00000476971.1_5'UTR	p.I209S	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	911	-	Acute lymphoblastic leukemia(192;0.000127)		209						Missense_Mutation	SNP	ENST00000359237.4	37	c.626T>G	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482255	0.26598	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.4	-1.11	0.09840	.	.	.	.	.	T	0.25457	0.0619	N	0.24115	0.695	0.09310	N	1	B	0.24368	0.102	B	0.19391	0.025	T	0.21724	-1.0237	8	0.87932	D	0	-2.3614	6.1346	0.20225	0.3498:0.5428:0.1074:0.0	.	209	Q9HBJ0	PLAC1_HUMAN	S	209	.	ENSP00000352173:I209S	I	-	2	0	PLAC1	133527753	0.012000	0.17670	0.000000	0.03702	0.133000	0.20885	0.768000	0.26590	-0.286000	0.09076	0.486000	0.48141	ATT		0.448	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		10	371	0	0	0	1	0	10	371					C	133700087	A	C	133700087	3	2	79	1	0	0	0	0	1	0	0	0	12054	101	4	4	16	4	PLAC1	23	133700087	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	812306	133700087	21570473	21563	31880											
CXorf48	54967	broad.mit.edu	37	chrX	134305013	134305013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggaataccttgtgggaggCcctgctgctgtgggccctgt	16	10	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134305013C>T	ENST00000276241.6	-	1	309	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CXorf48_ENST00000344129.2_Missense_Mutation_p.G28D	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTGGGAGGCCCTGCTGCTG	0.612																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(82-84)gGc>gAc		chromosome X open reading frame 48							104	90	95					X																	134305013		2203	4300	6503	SO:0001583	missense	54967							g.chrX:134305013C>T																												ENST00000276241.6:c.83G>A	X.37:g.134305013C>T	ENSP00000276241:p.Gly28Asp					CXorf48_ENST00000276241.6_Missense_Mutation_p.G28D	p.G28D	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			1	309	-	Acute lymphoblastic leukemia(192;0.000127)		28					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.83G>A	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.224414	0.01530	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.32023	1.47;1.47	2.25	-4.51	0.03483	.	.	.	.	.	T	0.20129	0.0484	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24119	-1.0169	9	0.20046	T	0.44	0.5962	10.7492	0.46198	0.0:0.1935:0.0:0.8065	.	28	Q8WUE5	CX048_HUMAN	D	28	ENSP00000276241:G28D;ENSP00000343893:G28D	ENSP00000276241:G28D	G	-	2	0	CXorf48	134132679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.702000	0.05069	-2.067000	0.00885	-1.004000	0.02495	GGC		0.612	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			87	311	0	0	0	1	0	87	311					T	134305013	C	T	134305013	3	4	79	1	0	0	0	0	1	0	0	0	4122	739	26	2	739	2	CXorf48	23	134305013	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	604926	134305013	20965547	21564	31881											
DDX26B	203522	broad.mit.edu	37	chrX	134711279	134711279	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtaactaaccatgtgggCggaaagggaccaccctcagc	11	12	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134711279C>T	ENST00000370752.4	+	14	2269	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	645								p.G645G(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGTGGGCGGAAAGGGAC	0.488																																						ENST00000370752.4																			2	Substitution - coding silent(2)	p.G645G(2)	large_intestine(1)|endometrium(1)	large_intestine(1)|lung(8)	9						c.(1933-1935)ggC>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							220	178	192					X																	134711279		2203	4300	6503	SO:0001819	synonymous_variant	203522							g.chrX:134711279C>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1935C>T	X.37:g.134711279C>T						DDX26B_ENST00000493637.1_Intron	p.G645G	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			14	2269	+	Acute lymphoblastic leukemia(192;6.56e-05)		645					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.1935C>T	CCDS35401.1																																																																																				0.488	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		65	620	0	0	0	1	0	65	620					T	134711279	C	T	134711279	2	4	79	1	0	0	0	0	0	0	0	1	4364	755	27	1		1	DDX26B	23	134711279	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	406266	134711279	20559281	21565	31882											
SLC9A6	10479	broad.mit.edu	37	chrX	135067752	135067752	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatgcggcccctttggttgCtcctcgcagtgggcgtcttt	12	13	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135067752C>A	ENST00000370698.3	+	1	126	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.L31I|SLC9A6_ENST00000370701.1_Intron	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	31					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)					CCTTTGGTTGCTCCTCGCAGT	0.716																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(91-93)Ctc>Atc		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							26	28	27					X																	135067752		2203	4296	6499	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135067752C>A	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.91C>A	X.37:g.135067752C>A	ENSP00000359732:p.Leu31Ile					SLC9A6_ENST00000370701.1_Intron|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L31I	p.L31I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			1	126	+	Acute lymphoblastic leukemia(192;0.000127)		31					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.91C>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	c	15.28	2.786621	0.49997	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.58060	0.39;0.36	4.18	3.29	0.37713	.	0.425334	0.22521	N	0.058974	T	0.35128	0.0921	L	0.27053	0.805	0.31981	N	0.60592	B;B	0.22683	0.073;0.039	B;B	0.18561	0.022;0.014	T	0.38308	-0.9667	10	0.41790	T	0.15	.	7.4117	0.27021	0.0:0.7844:0.0:0.2156	.	31;31	Q92581-2;Q92581	.;SL9A6_HUMAN	I	31	ENSP00000359732:L31I;ENSP00000359729:L31I	ENSP00000359729:L31I	L	+	1	0	SLC9A6	134895418	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	2.741000	0.47426	1.913000	0.55393	0.373000	0.22412	CTC		0.716	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		70	217	1	0	1.2582e-26	1	1.451e-26	70	217					A	135067752	C	A	135067752	3	1	79	1	0	0	0	0	1	0	0	0	14768	797	28	3	93	3	SLC9A6	23	135067752	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	356473	135067752	20202808	21566	31883											
SLC9A6	10479	broad.mit.edu	37	chrX	135095513	135095513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgtctttataggtgtaGttgcagtattgttttgtggc	12	3	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135095513G>A	ENST00000370698.3	+	9	1092	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	SLC9A6_ENST00000370695.4_Missense_Mutation_p.V385I|SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	353					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)					TATAGGTGTAGTTGCAGTATT	0.363																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1153-1155)Gtt>Att		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							192	165	174					X																	135095513		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135095513G>A	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.1057G>A	X.37:g.135095513G>A	ENSP00000359732:p.Val353Ile					SLC9A6_ENST00000370701.1_Missense_Mutation_p.V333I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.V353I	p.V385I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			9	1188	+	Acute lymphoblastic leukemia(192;0.000127)		353					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1153G>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911918	0.92178	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.15139	2.45;2.45;2.45	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.70787	2.145	0.80722	D	1	P;D	0.71674	0.815;0.998	P;D	0.70935	0.551;0.971	T	0.33085	-0.9882	10	0.87932	D	0	.	17.7295	0.88373	0.0:0.0:1.0:0.0	.	385;353	Q92581-2;Q92581	.;SL9A6_HUMAN	I	333;353;385	ENSP00000359735:V333I;ENSP00000359732:V353I;ENSP00000359729:V385I	ENSP00000359729:V385I	V	+	1	0	SLC9A6	134923179	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.423000	0.97461	2.405000	0.81733	0.513000	0.50165	GTT		0.363	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		110	392	0	0	0	1	0	110	392					A	135095513	G	A	135095513	3	1	79	1	0	0	0	0	1	0	0	0	14768	1029	36	2	1187	2	SLC9A6	23	135095513	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27761	135095513	20175047	21567	31884											
MAP7D3	79649	broad.mit.edu	37	chrX	135314112	135314112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacagggaatgagtccGtgctcacctcaggggccatg	12	13	3	1	rs369779481		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135314112G>A	ENST00000316077.9	-	8	1224	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	335					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GAATGAGTCCGTGCTCACCTC	0.572													G||||G|||	13|14	0.00344371|0.00370861	0.0|0.0	0.0|0.0	3775|3775	,|,	,|,		14333|14333	0.0109|0.0109		0.0|0.001	False|False		,,,|,,,				2504|2504	0.002|0.002					ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(1003-1005)aCg>aTg		MAP7 domain containing 3		G	MET/THR,MET/THR,MET/THR	2,3787		0,2,1607,571	123	127	125		950,899,1004	-8.4	0	X		125	0,6655		0,0,2414,1827	no	missense,missense,missense	MAP7D3	NM_001173516.1,NM_001173517.1,NM_024597.3	81,81,81	0,2,4021,2398	AA,AG,GG,G		0.0,0.0528,0.0191	possibly-damaging,possibly-damaging,possibly-damaging	317/859,300/842,335/877	135314112	2,10442	2180	4241	6421	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135314112G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1004C>T	X.37:g.135314112G>A	ENSP00000318086:p.Thr335Met					MAP7D3_ENST00000370663.5_Missense_Mutation_p.T317M|MAP7D3_ENST00000370661.1_Missense_Mutation_p.T300M	p.T335M	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1224	-	Acute lymphoblastic leukemia(192;0.000127)		335					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.1004C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	8.091	0.774550	0.16051	5.28E-4	0.0	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	4.19	-8.38	0.00973	.	.	.	.	.	T	0.01489	0.0048	N	0.01168	-0.975	0.09310	N	1	P;B;B;B	0.36282	0.546;0.181;0.234;0.17	B;B;B;B	0.20184	0.027;0.007;0.018;0.028	T	0.47032	-0.9148	9	0.40728	T	0.16	0.0624	1.9415	0.03348	0.3301:0.2269:0.3298:0.1132	.	317;294;335;300	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	M	300;335;317;294	ENSP00000359695:T300M;ENSP00000318086:T335M;ENSP00000359697:T317M;ENSP00000359694:T294M	ENSP00000318086:T335M	T	-	2	0	MAP7D3	135141778	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.966000	0.03825	-2.262000	0.00690	-1.498000	0.00962	ACG		0.572	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			173	590	0	0	0	1	0	173	590					A	135314112	G	A	135314112	3	1	79	1	0	0	0	0	1	0	0	0	9310	1145	40	1	1670	1	MAP7D3	23	135314112	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	218599	135314112	19956448	21568	31885											
MAP7D3	79649	broad.mit.edu	37	chrX	135326862	135326862	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcttctttctcttttcGctccttcagctttctctgtc	4	13	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135326862G>A	ENST00000316077.9	-	4	566	c.346C>T	c.(346-348)Cga>Tga	p.R116*	MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.R98*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.R116*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	116					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTCTCTTTTCGCTCCTTCAGC	0.383																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(346-348)Cga>Tga		MAP7 domain containing 3							266	236	245					X																	135326862		1884	4094	5978	SO:0001587	stop_gained	79649					cytoplasm|spindle		g.chrX:135326862G>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.346C>T	X.37:g.135326862G>A	ENSP00000318086:p.Arg116*					MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.R98*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.R116*	p.R116*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			4	566	-	Acute lymphoblastic leukemia(192;0.000127)		116					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Nonsense_Mutation	SNP	ENST00000316077.9	37	c.346C>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.878637	0.97055	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.449	17.7615	0.88466	0.0:0.0:1.0:0.0	.	.	.	.	X	116;116;98;116	.	ENSP00000318086:R116X	R	-	1	2	MAP7D3	135154528	1.000000	0.71417	0.028000	0.17463	0.004000	0.04260	5.336000	0.65935	2.312000	0.78011	0.506000	0.49869	CGA		0.383	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			27	578	0	0	0	1	0	27	578					A	135326862	G	A	135326862	4	1	79	1	0	0	0	0	0	1	0	0	9310	1095	38	1	2344	1	MAP7D3	23	135326862	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	12750	135326862	19943698	21569	31886											
MAP7D3	79649	broad.mit.edu	37	chrX	135328253	135328253	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctccttttctcctctctgCgctctcttgctaatctttgt	5	14	5	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135328253C>T	ENST00000316077.9	-	3	444	c.224G>A	c.(223-225)cGc>cAc	p.R75H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	75					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R372H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTCCTCTCTGCGCTCTCTTGC	0.274																																						ENST00000316077.9																			1	Substitution - Missense(1)	p.R372H(1)	large_intestine(1)	central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(223-225)cGc>cAc		MAP7 domain containing 3							168	141	150					X																	135328253		1825	4082	5907	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135328253C>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.224G>A	X.37:g.135328253C>T	ENSP00000318086:p.Arg75His					MAP7D3_ENST00000370663.5_Missense_Mutation_p.R57H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R75H	p.R75H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			3	444	-	Acute lymphoblastic leukemia(192;0.000127)		75					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.224G>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986959	0.53934	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.57	5.57	0.84162	.	0.000000	0.32802	N	0.005639	T	0.34978	0.0916	M	0.70275	2.135	0.42323	D	0.992268	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	0.05566	-1.0877	10	0.72032	D	0.01	-17.3619	18.3794	0.90445	0.0:1.0:0.0:0.0	.	57;75;75;75	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	75;75;57;75	ENSP00000359695:R75H;ENSP00000318086:R75H;ENSP00000359697:R57H;ENSP00000359694:R75H	ENSP00000318086:R75H	R	-	2	0	MAP7D3	135155919	0.997000	0.39634	0.031000	0.17742	0.002000	0.02628	4.724000	0.61972	2.466000	0.83321	0.594000	0.82650	CGC		0.274	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			78	361	0	0	0	1	0	78	361					T	135328253	C	T	135328253	3	4	79	1	0	0	0	0	1	0	0	0	9310	768	27	1	2470	1	MAP7D3	23	135328253	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1391	135328253	19942307	21570	31887											
GPR112	139378	broad.mit.edu	37	chrX	135429074	135429074	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccacctttggatcagaCtgcttccacaaccattgtta	7	12	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429074C>T	ENST00000394143.1	+	6	3500	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I|GPR112_ENST00000412101.1_Missense_Mutation_p.T865I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1070					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.T1070N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGATCAGACTGCTTCCACA	0.468																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.T1070N(1)	endometrium(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3208-3210)aCt>aTt		G protein-coupled receptor 112							270	249	256					X																	135429074		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429074C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3209C>T	X.37:g.135429074C>T	ENSP00000377699:p.Thr1070Ile					GPR112_ENST00000370652.1_Missense_Mutation_p.T1070I|GPR112_ENST00000412101.1_Missense_Mutation_p.T865I|GPR112_ENST00000287534.4_Missense_Mutation_p.T1007I|GPR112_ENST00000394141.1_Missense_Mutation_p.T865I	p.T1070I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3500	+	Acute lymphoblastic leukemia(192;0.000127)		1070					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3209C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.313932	0.40996	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39056	1.14;1.14;1.1;1.21;1.1	1.87	0.972	0.19704	.	.	.	.	.	T	0.47414	0.1444	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.78314	0.991;0.991;0.981	T	0.27739	-1.0065	9	0.87932	D	0	.	5.7438	0.18108	0.0:0.6663:0.3337:0.0	.	1007;865;1070	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	I	1070;1070;865;1007;865	ENSP00000377699:T1070I;ENSP00000359686:T1070I;ENSP00000416526:T865I;ENSP00000287534:T1007I;ENSP00000377697:T865I	ENSP00000287534:T1007I	T	+	2	0	GPR112	135256740	0.026000	0.19158	0.001000	0.08648	0.426000	0.31534	0.101000	0.15251	0.241000	0.21283	0.436000	0.28706	ACT		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			298	1062	0	0	0	1	0	298	1062					T	135429074	C	T	135429074	3	4	79	1	0	0	0	0	1	0	0	0	6658	565	20	2	3219	2	GPR112	23	135429074	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	100821	135429074	19841486	21571	31888											
GPR112	139378	broad.mit.edu	37	chrX	135429170	135429170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaggaagacatccatggCagttccttctctgacagaaa	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429170C>T	ENST00000394143.1	+	6	3596	c.3305C>T	c.(3304-3306)gCa>gTa	p.A1102V	GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V|GPR112_ENST00000412101.1_Missense_Mutation_p.A897V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					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)					ACATCCATGGCAGTTCCTTCT	0.478																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3304-3306)gCa>gTa		G protein-coupled receptor 112							165	139	148					X																	135429170		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429170C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3305C>T	X.37:g.135429170C>T	ENSP00000377699:p.Ala1102Val					GPR112_ENST00000370652.1_Missense_Mutation_p.A1102V|GPR112_ENST00000412101.1_Missense_Mutation_p.A897V|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039V|GPR112_ENST00000394141.1_Missense_Mutation_p.A897V	p.A1102V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3596	+	Acute lymphoblastic leukemia(192;0.000127)		1102					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3305C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009460	0.19277	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41400	1.03;1.03;1.0;1.1;1.0	2.82	-1.72	0.08107	.	.	.	.	.	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P;B;B	0.36909	0.573;0.035;0.02	B;B;B	0.33521	0.165;0.01;0.004	T	0.15065	-1.0450	9	0.19590	T	0.45	.	2.4094	0.04420	0.409:0.3085:0.0:0.2825	.	1039;897;1102	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	V	1102;1102;897;1039;897	ENSP00000377699:A1102V;ENSP00000359686:A1102V;ENSP00000416526:A897V;ENSP00000287534:A1039V;ENSP00000377697:A897V	ENSP00000287534:A1039V	A	+	2	0	GPR112	135256836	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	0.277000	0.18734	-0.434000	0.07275	-0.413000	0.06143	GCA		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			165	599	0	0	0	1	0	165	599					T	135429170	C	T	135429170	3	4	79	1	0	0	0	0	1	0	0	0	6658	710	25	2	3315	2	GPR112	23	135429170	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	96	135429170	19841390	21572	31889											
GPR112	139378	broad.mit.edu	37	chrX	135430725	135430725	+	Frame_Shift_Del	DEL	A	A	-													atatatgctggggctacttcAaaaaacaaaatggtttcctc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430725delA	ENST00000394143.1	+	6	5151	c.4860delA	c.(4858-4860)tcafs	p.S1620fs	GPR112_ENST00000370652.1_Frame_Shift_Del_p.S1620fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.S1557fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.S1415fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.S1415fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1620					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)					GGGCTACTTCAAAAAACAAAA	0.428																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4858-4860)tcfs		G protein-coupled receptor 112							104	95	98					X																	135430725		2203	4300	6503	SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430725delA	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.4860delA	X.37:g.135430725delA	ENSP00000377699:p.Ser1620fs					GPR112_ENST00000370652.1_Frame_Shift_Del_p.S1620fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.S1415fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.S1557fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.S1415fs	p.S1620fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5151	+	Acute lymphoblastic leukemia(192;0.000127)		1620					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Del	DEL	ENST00000394143.1	37	c.4860delA	CCDS35409.1																																																																																				0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			61	576						61	576	---	---	---	---	-	135430725	A	-	135430725	7	5	79	1	0	1	0	1	0	0	0	0	6658	117	5	0	4870	0	GPR112	23	135430725	Frame_Shift_Del	DEL	A	TCGA-IB-7651-01A-11D-2154-08	1555	135430725	19839835	21573	31890											
GPR112	139378	broad.mit.edu	37	chrX	135430783	135430783	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgatagaggcaccttccaggAtcacacctacgacctttctc	7	14	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430783A>C	ENST00000394143.1	+	6	5209	c.4918A>C	c.(4918-4920)Atc>Ctc	p.I1640L	GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L|GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1640					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)					ACCTTCCAGGATCACACCTAC	0.448																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4918-4920)Atc>Ctc		G protein-coupled receptor 112							136	128	131					X																	135430783		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430783A>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4918A>C	X.37:g.135430783A>C	ENSP00000377699:p.Ile1640Leu					GPR112_ENST00000370652.1_Missense_Mutation_p.I1640L|GPR112_ENST00000412101.1_Missense_Mutation_p.I1435L|GPR112_ENST00000287534.4_Missense_Mutation_p.I1577L|GPR112_ENST00000394141.1_Missense_Mutation_p.I1435L	p.I1640L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5209	+	Acute lymphoblastic leukemia(192;0.000127)		1640					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4918A>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	13.03	2.115233	0.37339	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.68;1.55	3.41	2.16	0.27623	.	.	.	.	.	T	0.21387	0.0515	L	0.29908	0.895	0.09310	N	1	P;B;B	0.51449	0.945;0.392;0.272	P;B;B	0.46237	0.508;0.062;0.028	T	0.08806	-1.0704	9	0.13108	T	0.6	.	5.3713	0.16140	0.7349:0.0:0.0:0.2651	.	1577;1435;1640	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1640;1640;1435;1577;1435	ENSP00000377699:I1640L;ENSP00000359686:I1640L;ENSP00000416526:I1435L;ENSP00000287534:I1577L;ENSP00000377697:I1435L	ENSP00000287534:I1577L	I	+	1	0	GPR112	135258449	0.646000	0.27295	0.001000	0.08648	0.191000	0.23601	2.703000	0.47110	0.192000	0.20272	0.352000	0.21897	ATC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			25	818	0	0	0	1	0	25	818					C	135430783	A	C	135430783	3	2	79	1	0	0	0	0	1	0	0	0	6658	333	12	4	4928	4	GPR112	23	135430783	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	58	135430783	19839777	21574	31891											
HTATSF1	27336	broad.mit.edu	37	chrX	135581769	135581769	+	Missense_Mutation	SNP	T	T	G													ttgtgtagattactgaagatTtcattgctacatatcaggcc							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581769T>G	ENST00000218364.4	+	2	373	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	HTATSF1_ENST00000535601.1_Missense_Mutation_p.F67V	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	67					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)					TACTGAAGATTTCATTGCTAC	0.388																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(199-201)Ttc>Gtc		HIV-1 Tat specific factor 1							122	118	119					X																	135581769		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135581769T>G	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.199T>G	X.37:g.135581769T>G	ENSP00000218364:p.Phe67Val					HTATSF1_ENST00000218364.4_Missense_Mutation_p.F67V	p.F67V	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			3	621	+	Acute lymphoblastic leukemia(192;0.000127)		67					D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.199T>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575253	0.86645	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.26223	1.75;1.75	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.61307	-0.7089	10	0.72032	D	0.01	-10.3323	14.8256	0.70110	0.0:0.0:0.0:1.0	.	67	O43719	HTSF1_HUMAN	V	67	ENSP00000442699:F67V;ENSP00000218364:F67V	ENSP00000218364:F67V	F	+	1	0	HTATSF1	135409435	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.337000	0.65941	1.882000	0.54519	0.481000	0.45027	TTC		0.388	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		127	488	0	0	0	1	0	127	488					G	135581769	T	G	135581769	3	3	79	1	0	0	0	0	1	0	0	0	7463	1841	64	4	205	4	HTATSF1	23	135581769	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	150986	135581769	19688791	21575	31892	209	2									
HTATSF1	27336	broad.mit.edu	37	chrX	135581775	135581775	+	Missense_Mutation	SNP	G	G	A													agattactgaagatttcattGctacatatcaggccaattat							TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581775G>A	ENST00000218364.4	+	2	379	c.205G>A	c.(205-207)Gct>Act	p.A69T	HTATSF1_ENST00000535601.1_Missense_Mutation_p.A69T	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	69					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)					AGATTTCATTGCTACATATCA	0.393																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(205-207)Gct>Act		HIV-1 Tat specific factor 1							123	120	121					X																	135581775		2203	4300	6503	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135581775G>A	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.205G>A	X.37:g.135581775G>A	ENSP00000218364:p.Ala69Thr					HTATSF1_ENST00000218364.4_Missense_Mutation_p.A69T	p.A69T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			3	627	+	Acute lymphoblastic leukemia(192;0.000127)		69					D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.205G>A	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296110	0.95574	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000425695;ENST00000218364;ENST00000415377	T;T	0.27557	1.66;1.66	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66400	-0.5933	10	0.66056	D	0.02	-18.9917	18.6736	0.91521	0.0:0.0:1.0:0.0	.	69	O43719	HTSF1_HUMAN	T	69	ENSP00000442699:A69T;ENSP00000218364:A69T	ENSP00000218364:A69T	A	+	1	0	HTATSF1	135409441	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.550000	0.90675	2.353000	0.79882	0.594000	0.82650	GCT		0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		123	498	0	0	0	1	0	123	498					A	135581775	G	A	135581775	3	1	79	1	0	0	0	0	1	0	0	0	7463	1319	46	2	211	2	HTATSF1	23	135581775	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	6	135581775	19688785	21576	31893	209	2									
HTATSF1	27336	broad.mit.edu	37	chrX	135593823	135593823	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgaaaaagtatttgatgAtgagtctgatgagaaagagg	12	1	1	7			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135593823A>G	ENST00000218364.4	+	9	2093	c.1919A>G	c.(1918-1920)gAt>gGt	p.D640G	HTATSF1_ENST00000535601.1_Missense_Mutation_p.D640G	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	640	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)					GTATTTGATGATGAGTCTGAT	0.393																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(1918-1920)gAt>gGt		HIV-1 Tat specific factor 1							123	120	121					X																	135593823		2202	4300	6502	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593823A>G	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.1919A>G	X.37:g.135593823A>G	ENSP00000218364:p.Asp640Gly					HTATSF1_ENST00000218364.4_Missense_Mutation_p.D640G	p.D640G	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			10	2341	+	Acute lymphoblastic leukemia(192;0.000127)		640			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1919A>G	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665511	0.29604	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04234	3.67;3.67	4.23	3.08	0.35506	.	0.664421	0.13400	N	0.390668	T	0.03783	0.0107	N	0.19112	0.55	0.27948	N	0.937253	B	0.19200	0.034	B	0.15052	0.012	T	0.32455	-0.9906	10	0.87932	D	0	-7.1752	7.1947	0.25845	0.8905:0.0:0.1095:0.0	.	640	O43719	HTSF1_HUMAN	G	640	ENSP00000442699:D640G;ENSP00000218364:D640G	ENSP00000218364:D640G	D	+	2	0	HTATSF1	135421489	0.949000	0.32298	0.893000	0.35052	0.617000	0.37484	2.624000	0.46444	0.779000	0.33543	0.425000	0.28330	GAT		0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		146	480	0	0	0	1	0	146	480					G	135593823	A	G	135593823	3	3	79	1	0	0	0	0	1	0	0	0	7463	333	12	4	1953	4	HTATSF1	23	135593823	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	12048	135593823	19676737	21577	31894											
VGLL1	51442	broad.mit.edu	37	chrX	135632947	135632947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ataagaaactatatgtatctCgtggatctgccagtaccagc	8	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135632947C>T	ENST00000370634.3	+	4	825	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	VGLL1_ENST00000470358.1_3'UTR|MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ATATGTATCTCGTGGATCTGC	0.428																																						ENST00000370634.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(655-657)Cgt>Tgt		vestigial like 1 (Drosophila)							140	132	134					X																	135632947		2203	4300	6503	SO:0001583	missense	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135632947C>T	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.655C>T	X.37:g.135632947C>T	ENSP00000359668:p.Arg219Cys					VGLL1_ENST00000470358.1_3'UTR	p.R219C	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN			4	825	+	Acute lymphoblastic leukemia(192;0.000127)		219					Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	c.655C>T	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.44|12.44	1.937268|1.937268	0.34189|0.34189	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000370634;ENST00000430688;ENST00000456412|ENST00000440515	T;T|T	0.60424|0.50277	0.74;0.19|0.75	5.15|5.15	-2.25|-2.25	0.06888|0.06888	.|.	1.249760|.	0.05308|.	N|.	0.524240|.	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.22983|.	0.078|.	B|.	0.11329|.	0.006|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|7	0.72032|0.02654	D|T	0.01|1	-0.0024|-0.0024	5.8179|5.8179	0.18506|0.18506	0.0:0.2538:0.4018:0.3444|0.0:0.2538:0.4018:0.3444	.|.	219|.	Q99990|.	VGLL1_HUMAN|.	C|L	219;76;21|136	ENSP00000359668:R219C;ENSP00000388868:R21C|ENSP00000398360:S136L	ENSP00000359668:R219C|ENSP00000398360:S136L	R|S	+|+	1|2	0|0	VGLL1|VGLL1	135460613|135460613	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	-0.068000|-0.068000	0.11561|0.11561	-0.852000|-0.852000	0.04141|0.04141	0.600000|0.600000	0.82982|0.82982	CGT|TCG		0.428	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		35	267	0	0	0	1	0	35	267					T	135632947	C	T	135632947	3	4	79	1	0	0	0	0	1	0	0	0	17212	884	31	1	665	1	VGLL1	23	135632947	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	39124	135632947	19637613	21578	31895											
ARHGEF6	9459	broad.mit.edu	37	chrX	135862894	135862894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccttttccacagagccagGcatgagtctgttgatcagtt	9	10	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135862894G>A	ENST00000250617.6	-	1	1353	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	50	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)					ACAGAGCCAGGCATGAGTCTG	0.428																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(148-150)Cct>Tct		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							173	163	166					X																	135862894		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135862894G>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.148C>T	X.37:g.135862894G>A	ENSP00000250617:p.Pro50Ser						p.P50S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			1	1353	-	Acute lymphoblastic leukemia(192;0.000127)		50			CH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.148C>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039400	0.75617	.	.	ENSG00000129675	ENST00000250617	D	0.97352	-4.35	5.91	5.91	0.95273	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.90082	3.085	0.80722	D	1	P	0.45569	0.861	P	0.54856	0.762	D	0.98971	1.0801	10	0.62326	D	0.03	.	19.2692	0.94002	0.0:0.0:1.0:0.0	.	50	Q15052	ARHG6_HUMAN	S	50	ENSP00000250617:P50S	ENSP00000250617:P50S	P	-	1	0	ARHGEF6	135690560	1.000000	0.71417	0.986000	0.45419	0.708000	0.40852	7.652000	0.83633	2.502000	0.84385	0.436000	0.28706	CCT		0.428	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		210	710	0	0	0	1	0	210	710					A	135862894	G	A	135862894	3	1	79	1	0	0	0	0	1	0	0	0	910	1203	42	2	2270	2	ARHGEF6	23	135862894	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	229947	135862894	19407666	21579	31896											
MCF2	4168	broad.mit.edu	37	chrX	138727816	138727816	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggagtctgatccattttGcctgaacgataagaagaaat	10	8	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:138727816G>A	ENST00000370576.4	-	0	0				MCF2_ENST00000414978.1_Splice_Site_p.Q48*|MCF2_ENST00000370578.4_Splice_Site_p.Q133*|MCF2_ENST00000519895.1_Splice_Site_p.Q48*|MCF2_ENST00000536274.1_5'Flank|MCF2_ENST00000520602.1_Splice_Site_p.Q48*	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GATCCATTTTGCCTGAACGAT	0.318																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.e4-1		MCF.2 cell line derived transforming sequence							58	50	53					X																	138727816		1815	4061	5876	SO:0001631	upstream_gene_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138727816G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537		X.37:g.138727816G>A	Exception_encountered					MCF2_ENST00000414978.1_Splice_Site_p.Q48_splice|MCF2_ENST00000370578.4_Splice_Site_p.Q133_splice|MCF2_ENST00000519895.1_Splice_Site_p.Q48_splice	p.Q48_splice			P10911	MCF2_HUMAN			4	427	-	Acute lymphoblastic leukemia(192;0.000127)		0			CRAL-TRIO.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Splice_Site	SNP	ENST00000370576.4	37	c.140_splice	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	G	36	5.731937	0.96856	.	.	ENSG00000101977	ENST00000520602;ENST00000370578;ENST00000414978;ENST00000519895	.	.	.	5.54	4.66	0.58398	.	0.315629	0.30142	N	0.010301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	10.5492	0.45079	0.0:0.0:0.6499:0.35	.	.	.	.	X	48;133;48;48	.	ENSP00000359610:Q133X	Q	-	1	0	MCF2	138555482	1.000000	0.71417	0.995000	0.50966	0.543000	0.35085	1.396000	0.34531	1.084000	0.41184	0.594000	0.82650	CAA		0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		20	79	0	0	0	1	0	20	79					A	138727816	G	A	138727816	1	1	79	0	1	0	0	0	0	0	0	0	9419	1333	46	2		2	MCF2	23	138727816	5'Flank	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2864922	138727816	16542744	21580	31897											
CDR1	1038	broad.mit.edu	37	chrX	139866020	139866020	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacctcccagtcttccagaaAatccacgtcttcccaacaat	3	16	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:139866020A>C	ENST00000370532.2	-	1	703	c.512T>G	c.(511-513)tTt>tGt	p.F171C		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	171	6 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)				TCTTCCAGAAAATCCACGTCT	0.428																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(511-513)tTt>tGt		cerebellar degeneration-related protein 1, 34kDa							146	150	149					X																	139866020		2203	4300	6503	SO:0001583	missense	1038							g.chrX:139866020A>C		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.512T>G	X.37:g.139866020A>C	ENSP00000359563:p.Phe171Cys						p.F171C	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	703	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	171			6 X 6 AA approximate repeats.		Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.512T>G	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543151	0.45280	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.07	-0.12	0.13539	.	.	.	.	.	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.61874	0.895	T	0.13124	-1.0521	7	.	.	.	.	3.87	0.09033	0.6586:0.0:0.1693:0.1721	.	171	P51861	CDR1_HUMAN	C	171	.	.	F	-	2	0	CDR1	139693686	0.018000	0.18449	0.004000	0.12327	0.269000	0.26545	1.299000	0.33424	0.100000	0.17581	0.242000	0.17961	TTT		0.428	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		19	1275	0	0	0	1	0	19	1275					C	139866020	A	C	139866020	3	2	79	1	0	0	0	0	1	0	0	0	3180	14	1	4	280	4	CDR1	23	139866020	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	1138204	139866020	15404540	21581	31898											
LDOC1	23641	broad.mit.edu	37	chrX	140270770	140270770	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggtcgagggcctaaTaatcatcctcctcttcttcg	9	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140270770T>C	ENST00000370526.2	-	1	540	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	LDOC1_ENST00000460721.1_Intron|RP3-507I15.2_ENST00000566241.1_RNA	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	146					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GAGGGCCTAATAATCATCCTC	0.647																																						ENST00000370526.2																			0				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14						c.(436-438)tAt>tGt		leucine zipper, down-regulated in cancer 1							55	36	43					X																	140270770		2203	4297	6500	SO:0001583	missense	23641				negative regulation of cell proliferation	nucleus	protein binding	g.chrX:140270770T>C	AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.437A>G	X.37:g.140270770T>C	ENSP00000359557:p.Tyr146Cys					LDOC1_ENST00000460721.1_Intron	p.Y146C	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN			1	540	-	Acute lymphoblastic leukemia(192;7.65e-05)		146					Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	c.437A>G	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	2.122	-0.401183	0.04865	.	.	ENSG00000182195	ENST00000370526	T	0.22945	1.93	3.67	2.47	0.30058	.	0.481200	0.15306	U	0.269334	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.37601	0.254	T	0.13764	-1.0497	10	0.87932	D	0	.	5.4737	0.16684	0.251:0.0:0.0:0.749	.	146	O95751	LDOC1_HUMAN	C	146	ENSP00000359557:Y146C	ENSP00000359557:Y146C	Y	-	2	0	LDOC1	140098436	0.982000	0.34865	0.308000	0.25141	0.003000	0.03518	0.671000	0.25172	0.573000	0.29400	0.237000	0.17872	TAT		0.647	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317		26	114	0	0	0	1	0	26	114					C	140270770	T	C	140270770	3	2	79	1	0	0	0	0	1	0	0	0	8740	1406	49	4	7	4	LDOC1	23	140270770	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	404750	140270770	14999790	21582	31899											
MAGEC3	139081	broad.mit.edu	37	chrX	140969366	140969366	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcttcaggaaagcccgtgaGttcatagagattctttttgg	10	7	4	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140969366G>A	ENST00000298296.1	+	4	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	231	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)					AAGCCCGTGAGTTCATAGAGA	0.443																																						ENST00000298296.1																			0				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						c.(691-693)gaG>gaA		melanoma antigen family C, 3							154	138	143					X																	140969366		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140969366G>A	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.693G>A	X.37:g.140969366G>A						MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	p.E231E	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	693	+	Acute lymphoblastic leukemia(192;6.56e-05)		231			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.693G>A	CCDS14676.1																																																																																				0.443	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		154	569	0	0	0	1	0	154	569					A	140969366	G	A	140969366	2	1	79	1	0	0	0	0	0	0	0	1	9223	1020	36	2		2	MAGEC3	23	140969366	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	698596	140969366	14301194	21583	31900											
MAGEC3	139081	broad.mit.edu	37	chrX	140985426	140985426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaagagcccattcagagGccagcaagagaagtcttaga	11	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140985426G>A	ENST00000298296.1	+	8	1740	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000544766.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	580	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)					CCATTCAGAGGCCAGCAAGAG	0.468																																						ENST00000544766.1																			0				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						c.(988-990)Gcc>Acc		melanoma antigen family C, 3							67	69	69					X																	140985426		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985426G>A	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.1740G>A	X.37:g.140985426G>A						MAGEC3_ENST00000298296.1_Silent_p.R580R|MAGEC3_ENST00000536088.1_Missense_Mutation_p.A330T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.A250T|MAGEC3_ENST00000409007.1_Missense_Mutation_p.A330T	p.A330T	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN			5	1515	+	Acute lymphoblastic leukemia(192;6.56e-05)		46			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.988G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.000581	0.00431	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	1.25	-0.779	0.10973	.	.	.	.	.	T	0.01592	0.0051	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.44742	-0.9308	8	0.02654	T	1	.	3.1264	0.06408	0.6987:0.0:0.3013:0.0	.	330	Q3SYA7	.	T	330;250;330;330	ENSP00000441107:A330T;ENSP00000438254:A250T;ENSP00000440444:A330T;ENSP00000386566:A330T	ENSP00000386566:A330T	A	+	1	0	MAGEC3	140813092	0.002000	0.14202	0.038000	0.18304	0.018000	0.09664	0.015000	0.13355	-0.094000	0.12374	-0.739000	0.03532	GCC		0.468	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		121	429	0	0	0	1	0	121	429					A	140985426	G	A	140985426	2	1	79	1	0	0	0	0	0	0	0	1	9223	1203	42	2		2	MAGEC3	23	140985426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	16060	140985426	14285134	21584	31901											
MAGEC1	9947	broad.mit.edu	37	chrX	140994053	140994053	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagtcttttccagagttcccCtgagagaactcagagtactt	9	10	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994053C>A	ENST00000285879.4	+	4	1149	c.863C>A	c.(862-864)cCt>cAt	p.P288H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	288										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)					CAGAGTTCCCCTGAGAGAACT	0.488										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(862-864)cCt>cAt		melanoma antigen family C, 1							104	96	99					X																	140994053		2201	4274	6475	SO:0001583	missense	9947						protein binding	g.chrX:140994053C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.863C>A	X.37:g.140994053C>A	ENSP00000285879:p.Pro288His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P288H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1149	+	Acute lymphoblastic leukemia(192;6.56e-05)		288					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.863C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.342	0.248409	0.10130	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.14893	3.24;2.47	.	.	.	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D	0.54964	0.969	P	0.47162	0.54	T	0.28427	-1.0044	8	0.39692	T	0.17	.	5.9409	0.19192	0.0:0.9994:0.0:6.0E-4	.	288	O60732	MAGC1_HUMAN	H	288;90;89	ENSP00000285879:P288H;ENSP00000359542:P90H	ENSP00000285879:P288H	P	+	2	0	MAGEC1	140821719	0.000000	0.05858	0.024000	0.17045	0.024000	0.10985	-0.143000	0.10296	0.148000	0.19059	0.150000	0.16122	CCT		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		275	682	1	0	4.13265e-109	1	5.31965e-109	275	682					A	140994053	C	A	140994053	3	1	79	1	0	0	0	0	1	0	0	0	9221	681	24	3	869	3	MAGEC1	23	140994053	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8627	140994053	14276507	21585	31902											
MAGEC1	9947	broad.mit.edu	37	chrX	140994195	140994195	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acttttgagggttttccccaGtctcttctccagattcctat	6	12	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994195G>T	ENST00000285879.4	+	4	1291	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	335										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)					GTTTTCCCCAGTCTCTTCTCC	0.458										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1003-1005)caG>caT		melanoma antigen family C, 1							119	121	120					X																	140994195		2202	4296	6498	SO:0001583	missense	9947						protein binding	g.chrX:140994195G>T	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.1005G>T	X.37:g.140994195G>T	ENSP00000285879:p.Gln335His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.Q335H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1291	+	Acute lymphoblastic leukemia(192;6.56e-05)		335					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1005G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	1.900	-0.453329	0.04540	.	.	ENSG00000155495	ENST00000285879	T	0.02236	4.38	.	.	.	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.40806	D	0.983384	P	0.50156	0.932	B	0.37144	0.242	T	0.67684	-0.5607	8	0.87932	D	0	.	5.9409	0.19192	6.0E-4:0.0:0.9994:0.0	.	335	O60732	MAGC1_HUMAN	H	335	ENSP00000285879:Q335H	ENSP00000285879:Q335H	Q	+	3	2	MAGEC1	140821861	0.347000	0.24853	0.136000	0.22124	0.136000	0.21042	1.465000	0.35299	0.148000	0.19059	0.150000	0.16122	CAG		0.458	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		291	928	1	0	1.58129e-95	1	2.03205e-95	291	928					T	140994195	G	T	140994195	3	4	79	1	0	0	0	0	1	0	0	0	9221	1020	36	3	1011	3	MAGEC1	23	140994195	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	142	140994195	14276365	21586	31903											
MAGEC1	9947	broad.mit.edu	37	chrX	140994977	140994977	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtctcctcactactttcCtcagagccctcctcaggggg	8	17	4	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994977C>T	ENST00000285879.4	+	4	2073	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	596										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)					CACTACTTTCCTCAGAGCCCT	0.577										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1786-1788)cCt>cTt		melanoma antigen family C, 1							223	238	233					X																	140994977		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994977C>T	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.1787C>T	X.37:g.140994977C>T	ENSP00000285879:p.Pro596Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P596L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2073	+	Acute lymphoblastic leukemia(192;6.56e-05)		596					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1787C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	13.27	2.187076	0.38609	.	.	ENSG00000155495	ENST00000285879	T	0.15139	2.45	0.96	0.96	0.19631	.	.	.	.	.	T	0.17874	0.0429	N	0.08118	0	0.58432	D	0.999999	D	0.64830	0.994	D	0.73708	0.981	T	0.09552	-1.0669	9	0.87932	D	0	.	7.647	0.28325	0.0:0.9999:0.0:1.0E-4	.	596	O60732	MAGC1_HUMAN	L	596	ENSP00000285879:P596L	ENSP00000285879:P596L	P	+	2	0	MAGEC1	140822643	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-0.017000	0.12590	0.187000	0.20147	0.190000	0.17370	CCT		0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		439	1579	0	0	0	1	0	439	1579					T	140994977	C	T	140994977	3	4	79	1	0	0	0	0	1	0	0	0	9221	681	24	2	1793	2	MAGEC1	23	140994977	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	782	140994977	14275583	21587	31904											
MAGEC1	9947	broad.mit.edu	37	chrX	140995885	140995885	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacagcgagtccttgataGagagcgagcccttgttcact	11	11	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995885G>T	ENST00000285879.4	+	4	2981	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	899										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)					GTCCTTGATAGAGAGCGAGCC	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2695-2697)Gag>Tag		melanoma antigen family C, 1							171	173	172					X																	140995885		2203	4300	6503	SO:0001587	stop_gained	9947						protein binding	g.chrX:140995885G>T	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.2695G>T	X.37:g.140995885G>T	ENSP00000285879:p.Glu899*	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_5'UTR	p.E899*	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2981	+	Acute lymphoblastic leukemia(192;6.56e-05)		899					A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	ENST00000285879.4	37	c.2695G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	37	6.161445	0.97338	.	.	ENSG00000155495	ENST00000285879	.	.	.	1.38	0.437	0.16555	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.3967	0.07308	0.2958:0.0:0.7042:0.0	.	.	.	.	X	899	.	ENSP00000285879:E899X	E	+	1	0	MAGEC1	140823551	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.199000	0.17237	0.084000	0.17077	0.279000	0.19357	GAG		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		247	967	1	0	3.64303e-86	1	4.6696e-86	247	967					T	140995885	G	T	140995885	4	4	79	1	0	0	0	0	0	1	0	0	9221	943	33	3	2701	3	MAGEC1	23	140995885	Nonsense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	908	140995885	14274675	21588	31905											
MAGEC1	9947	broad.mit.edu	37	chrX	140995998	140995998	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaaggcagagatgctgacGaatgtcatcagcaggtacac	11	9	2	2	rs368536858		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995998G>A	ENST00000285879.4	+	4	3094	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_ENST00000406005.2_Silent_p.T3T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	936	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)					AGATGCTGACGAATGTCATCA	0.468										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2806-2808)acG>acA		melanoma antigen family C, 1		G		0,3835		0,0,0,1632,571	156	145	149		2808	-0.2	0	X		149	1,6727		0,0,1,2428,1871	no	coding-synonymous	MAGEC1	NM_005462.4		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		936/1143	140995998	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140995998G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2808G>A	X.37:g.140995998G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.T3T	p.T936T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3094	+	Acute lymphoblastic leukemia(192;6.56e-05)		936			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2808G>A	CCDS35417.1																																																																																				0.468	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		206	793	0	0	0	1	0	206	793					A	140995998	G	A	140995998	2	1	79	1	0	0	0	0	0	0	0	1	9221	1045	37	1		1	MAGEC1	23	140995998	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	113	140995998	14274562	21589	31906											
MAGEC1	9947	broad.mit.edu	37	chrX	140996169	140996169	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgagtgatgagcagggCatgtcccagaaccgcctcct	12	12	1	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140996169C>T	ENST00000285879.4	+	4	3265	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	MAGEC1_ENST00000406005.2_Silent_p.G60G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	993	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)					ATGAGCAGGGCATGTCCCAGA	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2977-2979)ggC>ggT		melanoma antigen family C, 1							104	96	99					X																	140996169		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996169C>T	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.2979C>T	X.37:g.140996169C>T		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.G60G	p.G993G	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3265	+	Acute lymphoblastic leukemia(192;6.56e-05)		993			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2979C>T	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		140	540	0	0	0	1	0	140	540					T	140996169	C	T	140996169	2	4	79	1	0	0	0	0	0	0	0	1	9221	697	25	2		2	MAGEC1	23	140996169	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171	140996169	14274391	21590	31907											
SLITRK4	139065	broad.mit.edu	37	chrX	142716967	142716967	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggattccccaggccttcgTgcttcactgtgggtttcttg	11	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142716967T>C	ENST00000381779.4	-	2	2183	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R	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	653						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)					CAGGCCTTCGTGCTTCACTGT	0.448																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1957-1959)cAc>cGc		SLIT and NTRK-like family, member 4							111	113	112					X																	142716967		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716967T>C	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.1958A>G	X.37:g.142716967T>C	ENSP00000371198:p.His653Arg					SLITRK4_ENST00000338017.4_Missense_Mutation_p.H653R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.H653R	p.H653R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2183	-	Acute lymphoblastic leukemia(192;6.56e-05)		653					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1958A>G	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	4.134	0.023160	0.08006	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.36	5.36	0.76844	.	0.066272	0.64402	U	0.000009	T	0.34600	0.0903	L	0.29908	0.895	0.58432	D	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.13791	-1.0496	10	0.15952	T	0.53	-10.4493	13.1266	0.59358	0.0:0.0:0.0:1.0	.	653	Q8IW52	SLIK4_HUMAN	R	653	ENSP00000371198:H653R;ENSP00000349400:H653R;ENSP00000336627:H653R	ENSP00000336627:H653R	H	-	2	0	SLITRK4	142544633	1.000000	0.71417	0.910000	0.35882	0.933000	0.57130	6.298000	0.72763	1.781000	0.52344	0.417000	0.27973	CAC		0.448	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		166	641	0	0	0	1	0	166	641					C	142716967	T	C	142716967	3	2	79	1	0	0	0	0	1	0	0	0	14795	1696	59	4	559	4	SLITRK4	23	142716967	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	1720798	142716967	12553593	21591	31908											
SLITRK4	139065	broad.mit.edu	37	chrX	142717676	142717676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaaatacgtctccctTaatcactgtaatttgattgc	6	8	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142717676T>C	ENST00000381779.4	-	2	1474	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E	SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E|SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E	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	417						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)					ACGTCTCCCTTAATCACTGTA	0.383																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(1249-1251)Aag>Gag		SLIT and NTRK-like family, member 4							133	113	120					X																	142717676		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717676T>C	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.1249A>G	X.37:g.142717676T>C	ENSP00000371198:p.Lys417Glu					SLITRK4_ENST00000338017.4_Missense_Mutation_p.K417E|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K417E	p.K417E	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	1474	-	Acute lymphoblastic leukemia(192;6.56e-05)		417					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1249A>G	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	9.702	1.154735	0.21371	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.50001	0.76;0.76;0.76	5.29	4.09	0.47781	.	0.172029	0.47852	D	0.000218	T	0.18841	0.0452	N	0.01817	-0.705	0.35030	D	0.758698	B	0.02656	0.0	B	0.06405	0.002	T	0.15263	-1.0443	10	0.10902	T	0.67	-12.1744	9.6744	0.40032	0.0:0.0:0.3327:0.6672	.	417	Q8IW52	SLIK4_HUMAN	E	417	ENSP00000371198:K417E;ENSP00000349400:K417E;ENSP00000336627:K417E	ENSP00000336627:K417E	K	-	1	0	SLITRK4	142545342	1.000000	0.71417	0.885000	0.34714	0.972000	0.66771	1.931000	0.40134	0.718000	0.32166	0.437000	0.28790	AAG		0.383	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		123	397	0	0	0	1	0	123	397					C	142717676	T	C	142717676	3	2	79	1	0	0	0	0	1	0	0	0	14795	1763	61	4	1268	4	SLITRK4	23	142717676	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	709	142717676	12552884	21592	31909											
SLITRK2	84631	broad.mit.edu	37	chrX	144906288	144906288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttgtaccttacctaaaaGgcagtttgccccttcctatg	6	12	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:144906288G>A	ENST00000370490.1	+	1	6600	c.2345G>A	c.(2344-2346)aGg>aAg	p.R782K	SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	782					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)					TTACCTAAAAGGCAGTTTGCC	0.458																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2344-2346)aGg>aAg		SLIT and NTRK-like family, member 2							140	129	132					X																	144906288		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906288G>A	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2345G>A	X.37:g.144906288G>A	ENSP00000359521:p.Arg782Lys					SLITRK2_ENST00000413937.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R782K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R782K	p.R782K			Q9H156	SLIK2_HUMAN			1	6600	+	Acute lymphoblastic leukemia(192;6.56e-05)		782					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2345G>A	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934289	0.34096	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.38	5.38	0.77491	.	0.103397	0.64402	D	0.000004	T	0.33789	0.0875	N	0.22421	0.69	0.43879	D	0.996496	B	0.09022	0.002	B	0.04013	0.001	T	0.13098	-1.0522	10	0.15066	T	0.55	-2.9919	15.4932	0.75629	0.0:0.0:1.0:0.0	.	782	Q9H156	SLIK2_HUMAN	K	782	ENSP00000411681:R782K;ENSP00000359521:R782K;ENSP00000397015:R782K;ENSP00000407347:R782K;ENSP00000412010:R782K	ENSP00000359521:R782K	R	+	2	0	SLITRK2	144713980	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.352000	0.66028	2.251000	0.74343	0.600000	0.82982	AGG		0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		29	761	0	0	0	1	0	29	761					A	144906288	G	A	144906288	3	1	79	1	0	0	0	0	1	0	0	0	14793	1000	35	2	2347	2	SLITRK2	23	144906288	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2188612	144906288	10364272	21593	31910											
FMR1	2332	broad.mit.edu	37	chrX	147024736	147024736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctagaccaccaccaaatcGtacagataaggaaaaaagct	6	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147024736G>A	ENST00000370475.4	+	14	1489	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FMR1_ENST00000218200.8_Missense_Mutation_p.R433H|FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	454	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R454P(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCAAATCGTACAGATAAG	0.448									Fragile X syndrome																													ENST00000218200.8																			1	Substitution - Missense(1)	p.R454P(1)	lung(1)	NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1297-1299)cGt>cAt		fragile X mental retardation 1							183	158	166					X																	147024736		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147024736G>A	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1361G>A	X.37:g.147024736G>A	ENSP00000359506:p.Arg454His					FMR1_ENST00000370470.1_Missense_Mutation_p.R454H|FMR1_ENST00000440235.2_Missense_Mutation_p.R101H|FMR1_ENST00000370475.4_Missense_Mutation_p.R454H|FMR1_ENST00000492846.1_3'UTR|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.R433H|FMR1_ENST00000439526.2_Missense_Mutation_p.R431H	p.R433H	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			13	1527	+	Acute lymphoblastic leukemia(192;6.56e-05)		454			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1298G>A	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263875	0.80358	.	.	ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;D	0.91635	0.993;0.999;0.995;0.904;0.997	T	0.54892	-0.8225	10	0.37606	T	0.19	-20.0485	17.5771	0.87953	0.0:0.0:1.0:0.0	.	101;454;349;433;431	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	H	433;433;454;431;454;101	ENSP00000218200:R433H;ENSP00000359508:R433H;ENSP00000359506:R454H;ENSP00000395923:R431H;ENSP00000359501:R454H;ENSP00000413764:R101H	ENSP00000218200:R433H	R	+	2	0	FMR1	146832428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.593000	0.67550	2.367000	0.80283	0.600000	0.82982	CGT		0.448	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		136	498	0	0	0	1	0	136	498					A	147024736	G	A	147024736	3	1	79	1	0	0	0	0	1	0	0	0	5985	1145	40	1	1415	1	FMR1	23	147024736	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	2118448	147024736	8245824	21594	31911											
FMR1	2332	broad.mit.edu	37	chrX	147026464	147026464	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actcagtgattggtcattagCtccaacagaggaagagaggg	13	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147026464C>A	ENST00000370475.4	+	15	1675	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	FMR1_ENST00000218200.8_Missense_Mutation_p.A495D|FMR1_ENST00000370470.1_Splice_Site_p.A491D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D|FMR1_ENST00000370471.3_Splice_Site_p.L426I|FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1-IT1_ENST00000441414.1_RNA	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	516	Interaction with RANBP9.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTAGCTCCAACAGAG	0.507									Fragile X syndrome																													ENST00000218200.8																			0				NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1483-1485)gCt>gAt		fragile X mental retardation 1							64	57	60					X																	147026464		2203	4300	6503	SO:0001583	missense	2332	Fragile X syndrome	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	g.chrX:147026464C>A	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.1547C>A	X.37:g.147026464C>A	ENSP00000359506:p.Ala516Asp					FMR1_ENST00000370470.1_Splice_Site_p.A491_splice|FMR1_ENST00000440235.2_Missense_Mutation_p.A163D|FMR1_ENST00000370475.4_Missense_Mutation_p.A516D|FMR1_ENST00000370471.3_Splice_Site_p.L426_splice|FMR1_ENST00000370477.1_Missense_Mutation_p.A483D|FMR1_ENST00000439526.2_Missense_Mutation_p.A493D	p.A495D	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN			14	1713	+	Acute lymphoblastic leukemia(192;6.56e-05)		516			Interaction with RANBP9.		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	c.1484C>A	CCDS14682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.94|17.94	3.511002|3.511002	0.64522|0.64522	.|.	.|.	ENSG00000102081|ENSG00000102081	ENST00000218200;ENST00000370477;ENST00000370475;ENST00000439526;ENST00000370470;ENST00000440235|ENST00000370471	T;T;T;T;T;T|T	0.38077|0.55413	1.16;1.16;1.16;1.16;1.5;1.16|0.52	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62356|0.62356	0.2421|0.2421	L|L	0.46157|0.46157	1.445|1.445	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|.	0.998;1.0;0.999;0.999;0.998|.	T|T	0.64097|0.64097	-0.6487|-0.6487	10|7	0.23891|0.66056	T|D	0.37|0.02	-30.7702|-30.7702	17.5377|17.5377	0.87837|0.87837	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	163;516;411;470;493|.	F8W871;Q06787;Q59GC1;Q06787-8;G3V0J0|.	.;FMR1_HUMAN;.;.;.|.	D|I	495;483;516;493;491;163|426	ENSP00000218200:A495D;ENSP00000359508:A483D;ENSP00000359506:A516D;ENSP00000395923:A493D;ENSP00000359501:A491D;ENSP00000413764:A163D|ENSP00000359502:L426I	ENSP00000218200:A495D|ENSP00000359502:L426I	A|L	+|+	2|1	0|0	FMR1|FMR1	146834156|146834156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.612000|0.612000	0.37316|0.37316	7.218000|7.218000	0.77991|0.77991	2.357000|2.357000	0.79964|0.79964	0.506000|0.506000	0.49869|0.49869	GCT|CTC		0.507	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1	NM_002024		7	81	1	0	0.00307968	1	0.00310409	7	81					A	147026464	C	A	147026464	3	1	79	1	0	0	0	0	1	0	0	0	5985	811	28	3	1605	3	FMR1	23	147026464	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1728	147026464	8244096	21595	31912											
FMR1NB	158521	broad.mit.edu	37	chrX	147063094	147063094	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggcctcagccaggatggCgggaatctctaaagatgcgg	14	10	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147063094C>T	ENST00000370467.3	+	1	246	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	58						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGATGGCGGGAATCTCT	0.557																																						ENST00000370467.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(172-174)Cgg>Tgg		fragile X mental retardation 1 neighbor							105	96	99					X																	147063094		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147063094C>T		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.172C>T	X.37:g.147063094C>T	ENSP00000359498:p.Arg58Trp						p.R58W	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			1	246	+	Acute lymphoblastic leukemia(192;6.56e-05)		58					D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.172C>T	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901792	0.33535	.	.	ENSG00000176988	ENST00000370467	T	0.46819	0.86	1.91	0.998	0.19857	.	.	.	.	.	T	0.39989	0.1099	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.18209	-1.0344	9	0.45353	T	0.12	-0.0892	5.054	0.14524	0.35:0.65:0.0:0.0	.	58	Q8N0W7	FMR1N_HUMAN	W	58	ENSP00000359498:R58W	ENSP00000359498:R58W	R	+	1	2	FMR1NB	146870786	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.401000	0.07232	0.268000	0.21939	0.552000	0.68991	CGG		0.557	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		91	324	0	0	0	1	0	91	324					T	147063094	C	T	147063094	3	4	79	1	0	0	0	0	1	0	0	0	5986	759	27	1	174	1	FMR1NB	23	147063094	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36630	147063094	8207466	21596	31913											
AFF2	2334	broad.mit.edu	37	chrX	147744092	147744092	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgcaaaacaagcatggggCagcaaaagccaactgcatac	9	11	0	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147744092C>T	ENST00000370460.2	+	3	1323	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	282					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)					AAGCATGGGGCAGCAAAAGCC	0.507																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(844-846)Cag>Tag		AF4/FMR2 family, member 2							93	91	92					X																	147744092		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744092C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.844C>T	X.37:g.147744092C>T	ENSP00000359489:p.Gln282*					AFF2_ENST00000370458.1_Nonsense_Mutation_p.Q278*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.Q278*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.Q278*	p.Q282*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	1323	+	Acute lymphoblastic leukemia(192;6.56e-05)		282					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.844C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	42	9.387678	0.99156	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.814	0.92070	0.0:1.0:0.0:0.0	.	.	.	.	X	282;278;278;278	.	ENSP00000345459:Q278X	Q	+	1	0	AFF2	147551784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.329000	0.79170	2.389000	0.81357	0.600000	0.82982	CAG		0.507	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		158	486	0	0	0	1	0	158	486					T	147744092	C	T	147744092	4	4	79	1	0	0	0	0	0	1	0	0	357	711	25	2	854	2	AFF2	23	147744092	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	680998	147744092	7526468	21597	31914											
AFF2	2334	broad.mit.edu	37	chrX	148035155	148035155	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacctgcagtgcaagccagCgggggttctggcagctccag	14	14	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148035155C>T	ENST00000370460.2	+	10	1922	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	AFF2_ENST00000370457.5_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S|AFF2_ENST00000342251.3_Silent_p.S448S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	481					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)					TGCAAGCCAGCGGGGGTTCTG	0.522																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1441-1443)agC>agT		AF4/FMR2 family, member 2							85	88	87					X																	148035155		2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148035155C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1443C>T	X.37:g.148035155C>T						AFF2_ENST00000342251.3_Silent_p.S448S|AFF2_ENST00000370457.5_Silent_p.S448S|AFF2_ENST00000286437.5_Silent_p.S122S	p.S481S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			10	1922	+	Acute lymphoblastic leukemia(192;6.56e-05)		481					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1443C>T	CCDS14684.1																																																																																				0.522	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		84	682	0	0	0	1	0	84	682					T	148035155	C	T	148035155	2	4	79	1	0	0	0	0	0	0	0	1	357	767	27	1		1	AFF2	23	148035155	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	291063	148035155	7235405	21598	31915											
AFF2	2334	broad.mit.edu	37	chrX	148049205	148049205	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagaagctaagaagctgaagCacaaagctgatgcactggta	11	7	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148049205C>T	ENST00000370460.2	+	15	3729	c.3250C>T	c.(3250-3252)Cac>Tac	p.H1084Y	AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y|AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1084					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)					GAAGCTGAAGCACAAAGCTGA	0.338																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3250-3252)Cac>Tac		AF4/FMR2 family, member 2							167	151	156					X																	148049205		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148049205C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3250C>T	X.37:g.148049205C>T	ENSP00000359489:p.His1084Tyr					AFF2_ENST00000342251.3_Missense_Mutation_p.H1051Y|AFF2_ENST00000370457.5_Missense_Mutation_p.H1049Y|AFF2_ENST00000286437.5_Missense_Mutation_p.H725Y	p.H1084Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			15	3729	+	Acute lymphoblastic leukemia(192;6.56e-05)		1084					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3250C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585519	0.86748	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D	0.89917	0.994;0.978;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.992;0.98;0.991;0.997;0.997;0.998	D	0.85895	0.1431	10	0.72032	D	0.01	.	19.1178	0.93348	0.0:1.0:0.0:0.0	.	725;1049;1049;1045;1074;1084	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	1084;1049;1051;725	ENSP00000359489:H1084Y;ENSP00000359486:H1049Y;ENSP00000345459:H1051Y;ENSP00000286437:H725Y	ENSP00000286437:H725Y	H	+	1	0	AFF2	147856899	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.783000	0.85696	2.465000	0.83290	0.594000	0.82650	CAC		0.338	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		67	223	0	0	0	1	0	67	223					T	148049205	C	T	148049205	3	4	79	1	0	0	0	0	1	0	0	0	357	710	25	2	3363	2	AFF2	23	148049205	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14050	148049205	7221355	21599	31916											
AFF2	2334	broad.mit.edu	37	chrX	148069061	148069061	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatgaacactgggatatggCcgacaaactgacaagagaaa	10	8	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148069061C>T	ENST00000370460.2	+	20	4267	c.3788C>T	c.(3787-3789)gCc>gTc	p.A1263V	AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V|AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1263					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)					TGGGATATGGCCGACAAACTG	0.478																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3787-3789)gCc>gTc		AF4/FMR2 family, member 2							195	151	166					X																	148069061		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148069061C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3788C>T	X.37:g.148069061C>T	ENSP00000359489:p.Ala1263Val					AFF2_ENST00000342251.3_Missense_Mutation_p.A1230V|AFF2_ENST00000370457.5_Missense_Mutation_p.A1228V|AFF2_ENST00000286437.5_Missense_Mutation_p.A904V	p.A1263V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			20	4267	+	Acute lymphoblastic leukemia(192;6.56e-05)		1263					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3788C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511101	0.96386	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.995;0.998;0.998;0.998;0.999	D	0.91090	0.4906	10	0.87932	D	0	.	18.9513	0.92642	0.0:1.0:0.0:0.0	.	904;1228;1228;1224;1253;1263	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1263;1228;1230;904	ENSP00000359489:A1263V;ENSP00000359486:A1228V;ENSP00000345459:A1230V;ENSP00000286437:A904V	ENSP00000286437:A904V	A	+	2	0	AFF2	147876767	1.000000	0.71417	0.955000	0.39395	0.912000	0.54170	7.786000	0.85741	2.423000	0.82170	0.600000	0.82982	GCC		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		81	377	0	0	0	1	0	81	377					T	148069061	C	T	148069061	3	4	79	1	0	0	0	0	1	0	0	0	357	739	26	2	3921	2	AFF2	23	148069061	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	19856	148069061	7201499	21600	31917											
AFF2	2334	broad.mit.edu	37	chrX	148072854	148072854	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcatcgatgcccacTtgttgtagtgggtgttctca	13	10	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148072854T>G	ENST00000370460.2	+	21	4407	c.3928T>G	c.(3928-3930)Ttg>Gtg	p.L1310V	AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V|AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1310					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)					CGATGCCCACTTGTTGTAGTG	0.562																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3928-3930)Ttg>Gtg		AF4/FMR2 family, member 2							224	148	174					X																	148072854		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072854T>G	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3928T>G	X.37:g.148072854T>G	ENSP00000359489:p.Leu1310Val					AFF2_ENST00000342251.3_Missense_Mutation_p.L1277V|AFF2_ENST00000370457.5_Missense_Mutation_p.L1275V|AFF2_ENST00000286437.5_Missense_Mutation_p.L951V	p.L1310V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			21	4407	+	Acute lymphoblastic leukemia(192;6.56e-05)		1310					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3928T>G	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195460	0.58126	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;D	0.82167	-0.89;-1.16;-1.16;-1.58	5.46	2.74	0.32292	.	0.000000	0.56097	D	0.000021	D	0.86293	0.5898	L	0.47716	1.5	0.42839	D	0.994048	B;P;B;D;D;D	0.89917	0.361;0.526;0.342;1.0;1.0;0.999	B;P;B;D;D;D	0.83275	0.235;0.825;0.367;0.996;0.996;0.991	D	0.85580	0.1239	10	0.66056	D	0.02	.	9.8601	0.41109	0.0:0.1681:0.0:0.8319	.	951;1275;1275;1271;1300;1310	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	1310;1275;1277;951	ENSP00000359489:L1310V;ENSP00000359486:L1275V;ENSP00000345459:L1277V;ENSP00000286437:L951V	ENSP00000286437:L951V	L	+	1	2	AFF2	147880560	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	2.860000	0.48372	0.718000	0.32166	-0.330000	0.08379	TTG		0.562	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		164	541	0	0	0	1	0	164	541					G	148072854	T	G	148072854	3	3	79	1	0	0	0	0	1	0	0	0	357	1606	56	4	4065	4	AFF2	23	148072854	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	3793	148072854	7197706	21601	31918											
MAGEA11	4110	broad.mit.edu	37	chrX	148797776	148797776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagtacctcgcctgaCctgatagaccctgagtcctt	10	14	0	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797776C>T	ENST00000355220.5	+	5	732	c.630C>T	c.(628-630)gaC>gaT	p.D210D	MAGEA11_ENST00000333104.4_Silent_p.D181D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	210						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCTCGCCTGACCTGATAGACC	0.488																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(628-630)gaC>gaT		melanoma antigen family A, 11							107	102	104					X																	148797776		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148797776C>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.630C>T	X.37:g.148797776C>T						MAGEA11_ENST00000333104.4_Silent_p.D181D	p.D210D	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	732	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		210					Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.630C>T	CCDS48180.1																																																																																				0.488	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		13	610	0	0	0	1	0	13	610					T	148797776	C	T	148797776	2	4	79	1	0	0	0	0	0	0	0	1	9204	506	18	2		2	MAGEA11	23	148797776	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	724922	148797776	6472784	21602	31919											
MAGEA11	4110	broad.mit.edu	37	chrX	148797891	148797891	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatcacaaaggcagaaatgCtggggagtgtcatcaaaaat	11	6	3	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797891C>A	ENST00000355220.5	+	5	847	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCAGAAATGCTGGGGAGTGT	0.413																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(745-747)Ctg>Atg		melanoma antigen family A, 11							108	110	109					X																	148797891		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797891C>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.745C>A	X.37:g.148797891C>A	ENSP00000347358:p.Leu249Met					MAGEA11_ENST00000333104.4_Missense_Mutation_p.L220M	p.L249M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	847	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		249			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.745C>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	8.490	0.861790	0.17178	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.06068	3.35;3.35;3.35	0.976	0.0829	0.14431	.	.	.	.	.	T	0.18341	0.0440	M	0.80028	2.48	0.09310	N	1	D;D	0.63880	0.984;0.993	P;D	0.66196	0.904;0.942	T	0.09530	-1.0670	9	0.59425	D	0.04	.	3.3012	0.06984	0.0:0.6881:0.0:0.3119	.	220;249	G5E962;P43364	.;MAGAB_HUMAN	M	220;220;249	ENSP00000391496:L220M;ENSP00000328177:L220M;ENSP00000347358:L249M	ENSP00000328177:L220M	L	+	1	2	MAGEA11	148576514	0.432000	0.25554	0.004000	0.12327	0.059000	0.15707	-0.191000	0.09601	-0.041000	0.13558	-0.426000	0.05927	CTG		0.413	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		146	561	1	0	1.15969e-74	1	1.47797e-74	146	561					A	148797891	C	A	148797891	3	1	79	1	0	0	0	0	1	0	0	0	9204	796	28	3	772	3	MAGEA11	23	148797891	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	115	148797891	6472669	21603	31920											
MAGEA8	4107	broad.mit.edu	37	chrX	149013843	149013843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagtaccgccaggcgcccgGcagtgatcctgtgcgctacg	15	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149013843G>A	ENST00000542674.1	+	3	1318	c.797G>A	c.(796-798)gGc>gAc	p.G266D	MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000535454.1_Missense_Mutation_p.G266D	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)					CAGGCGCCCGGCAGTGATCCT	0.572																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(796-798)gGc>gAc		melanoma antigen family A, 8							112	106	108					X																	149013843		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013843G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.797G>A	X.37:g.149013843G>A	ENSP00000443776:p.Gly266Asp					MAGEA8_ENST00000286482.1_Missense_Mutation_p.G266D|MAGEA8_ENST00000542674.1_Missense_Mutation_p.G266D	p.G266D	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1346	+	Acute lymphoblastic leukemia(192;6.56e-05)		266			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.797G>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	5.488	0.274967	0.10403	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.04551	3.6;3.6;3.6	1.0	-0.00804	0.14006	.	1.973700	0.02584	N	0.099221	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B	0.19935	0.04	B	0.28709	0.093	T	0.41787	-0.9489	10	0.27082	T	0.32	.	3.2982	0.06974	0.3338:0.0:0.6662:0.0	rs45577435	266	P43361	MAGA8_HUMAN	D	266	ENSP00000438293:G266D;ENSP00000443776:G266D;ENSP00000286482:G266D	ENSP00000286482:G266D	G	+	2	0	MAGEA8	148774501	0.000000	0.05858	0.116000	0.21606	0.417000	0.31264	-0.366000	0.07563	-0.074000	0.12820	0.190000	0.17370	GGC		0.572	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		192	656	0	0	0	1	0	192	656					A	149013843	G	A	149013843	3	1	79	1	0	0	0	0	1	0	0	0	9210	1203	42	2	799	2	MAGEA8	23	149013843	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	215952	149013843	6256717	21604	31921											
CXorf40B	541578	broad.mit.edu	37	chrX	149100935	149100935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttctagttccacaacctcatCgggagttaagtcttcggggc	10	11	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149100935C>T	ENST00000370406.3	-	5	1132	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N|CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	102										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACCTCATCGGGAGTTAAG	0.473																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(304-306)Gat>Aat		chromosome X open reading frame 40B							135	120	125					X																	149100935		2200	4299	6499	SO:0001583	missense	541578							g.chrX:149100935C>T	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.304G>A	X.37:g.149100935C>T	ENSP00000359434:p.Asp102Asn					CXorf40B_ENST00000462691.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000370404.1_Missense_Mutation_p.D102N|CXorf40B_ENST00000355203.2_Missense_Mutation_p.D102N	p.D102N			Q96DE9	CX04B_HUMAN			5	1132	-	Acute lymphoblastic leukemia(192;6.56e-05)		102						Missense_Mutation	SNP	ENST00000370406.3	37	c.304G>A	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	c	0.900	-0.722721	0.03158	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	3.22	-0.0889	0.13671	PUA-like domain (1);	1.024090	0.07763	N	0.950486	T	0.21062	0.0507	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30707	-0.9969	10	0.34782	T	0.22	-0.026	4.5761	0.12234	0.0:0.4414:0.3349:0.2237	.	102	Q96DE9	CX04B_HUMAN	N	102	ENSP00000417546:D102N;ENSP00000359434:D102N;ENSP00000347339:D102N;ENSP00000359432:D102N	ENSP00000347339:D102N	D	-	1	0	CXorf40B	148851593	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.764000	0.26532	-0.477000	0.06832	-0.731000	0.03576	GAT		0.473	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		22	225	0	0	0	1	0	22	225					T	149100935	C	T	149100935	3	4	79	1	0	0	0	0	1	0	0	0	4120	884	31	1	176	1	CXorf40B	23	149100935	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	87092	149100935	6169625	21605	31922											
CXorf40B	541578	broad.mit.edu	37	chrX	149101878	149101878	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	caaacttttcccctttcctgAgcaaggcctgaatctgagca	7	13	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149101878A>C	ENST00000370406.3	-	4	1043	c.215T>G	c.(214-216)cTc>cGc	p.L72R	CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R|CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|XX-FW81066F1.2_ENST00000457775.1_RNA|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	72										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTTCCTGAGCAAGGCCTG	0.562																																						ENST00000370406.3																			0				endometrium(1)|lung(4)	5						c.(214-216)cTc>cGc		chromosome X open reading frame 40B							230	210	217					X																	149101878		2201	4300	6501	SO:0001583	missense	541578							g.chrX:149101878A>C	BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.215T>G	X.37:g.149101878A>C	ENSP00000359434:p.Leu72Arg					CXorf40B_ENST00000462691.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.L72R|CXorf40B_ENST00000355203.2_Missense_Mutation_p.L72R	p.L72R			Q96DE9	CX04B_HUMAN			4	1043	-	Acute lymphoblastic leukemia(192;6.56e-05)		72						Missense_Mutation	SNP	ENST00000370406.3	37	c.215T>G	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	a	15.27	2.784764	0.49997	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	2.94	2.94	0.34122	PUA-like domain (1);	0.148635	0.44483	D	0.000459	T	0.43122	0.1233	M	0.81682	2.555	0.09310	N	0.999995	D	0.69078	0.997	D	0.66351	0.943	T	0.24190	-1.0167	10	0.87932	D	0	-16.5797	9.9496	0.41631	1.0:0.0:0.0:0.0	.	72	Q96DE9	CX04B_HUMAN	R	72	ENSP00000417546:L72R;ENSP00000359434:L72R;ENSP00000347339:L72R;ENSP00000359432:L72R	ENSP00000347339:L72R	L	-	2	0	CXorf40B	148852536	0.382000	0.25148	0.003000	0.11579	0.002000	0.02628	5.177000	0.65032	0.877000	0.35895	0.371000	0.22339	CTC		0.562	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		61	833	0	0	0	1	0	61	833					C	149101878	A	C	149101878	3	2	79	1	0	0	0	0	1	0	0	0	4120	304	11	4	269	4	CXorf40B	23	149101878	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	943	149101878	6168682	21606	31923											
MAMLD1	10046	broad.mit.edu	37	chrX	149638350	149638350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actatgagaaaatcaacagcGtgccggctgtagaccaggag	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149638350G>A	ENST00000370401.2	+	4	815	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	169					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.V96L(1)|p.V144L(1)|p.V169L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAACAGCGTGCCGGCTGT	0.478																																						ENST00000370401.2																			3	Substitution - Missense(3)	p.V96L(1)|p.V144L(1)|p.V169L(1)	lung(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(505-507)Gtg>Atg		mastermind-like domain containing 1							64	62	63					X																	149638350		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149638350G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.505G>A	X.37:g.149638350G>A	ENSP00000359428:p.Val169Met					MAMLD1_ENST00000432680.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000426613.2_Missense_Mutation_p.V144M|MAMLD1_ENST00000262858.5_Missense_Mutation_p.V169M|MAMLD1_ENST00000468306.1_3'UTR	p.V169M			Q13495	MAMD1_HUMAN			4	815	+	Acute lymphoblastic leukemia(192;6.56e-05)		169					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.505G>A	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.280684	0.00254	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.65178	0.21;-0.14;0.21;0.23	5.36	-10.7	0.00240	.	1.563870	0.03344	N	0.195271	T	0.33235	0.0856	N	0.08118	0	0.09310	N	1	B;B;B;B	0.26258	0.116;0.032;0.002;0.145	B;B;B;B	0.18871	0.023;0.014;0.004;0.014	T	0.30149	-0.9988	10	0.35671	T	0.21	0.5407	6.6423	0.22917	0.6297:0.1798:0.0807:0.1098	.	131;144;144;169	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	M	131;169;144;169;144	ENSP00000359428:V169M;ENSP00000414517:V144M;ENSP00000262858:V169M;ENSP00000397438:V144M	ENSP00000262858:V169M	V	+	1	0	MAMLD1	149389008	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.262000	0.01175	-3.170000	0.00225	-1.158000	0.01797	GTG		0.478	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		121	362	0	0	0	1	0	121	362					A	149638350	G	A	149638350	3	1	79	1	0	0	0	0	1	0	0	0	9249	1145	40	1	515	1	MAMLD1	23	149638350	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	536472	149638350	5632210	21607	31924											
MTM1	4534	broad.mit.edu	37	chrX	149809786	149809786	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ataacttttattaataagtgCtatgagctctgtgacactta	6	6	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149809786C>A	ENST00000370396.2	+	8	627	c.573C>A	c.(571-573)tgC>tgA	p.C191*	MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	191	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTAATAAGTGCTATGAGCTCT	0.433																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(571-573)tgC>tgA		myotubularin 1							171	155	160					X																	149809786		2203	4300	6503	SO:0001587	stop_gained	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149809786C>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.573C>A	X.37:g.149809786C>A	ENSP00000359423:p.Cys191*					MTM1_ENST00000413012.2_Nonsense_Mutation_p.C154*|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Nonsense_Mutation_p.C76*|MTM1_ENST00000542741.1_Nonsense_Mutation_p.C96*	p.C191*	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			8	627	+	Acute lymphoblastic leukemia(192;6.56e-05)		191			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Nonsense_Mutation	SNP	ENST00000370396.2	37	c.573C>A	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788925	0.96945	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	.	.	.	5.44	3.67	0.42095	.	0.258803	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.5168	0.07727	0.1805:0.5115:0.0:0.3081	.	.	.	.	X	191;96;76;154	.	ENSP00000359423:C191X	C	+	3	2	MTM1	149560444	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.628000	0.24522	0.585000	0.29608	0.529000	0.55759	TGC		0.433	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		103	340	1	0	5.60141e-34	1	6.65258e-34	103	340					A	149809786	C	A	149809786	4	1	79	1	0	0	0	0	0	1	0	0	9978	805	28	3	599	3	MTM1	23	149809786	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	171436	149809786	5460774	21608	31925											
MTMR1	8776	broad.mit.edu	37	chrX	149924229	149924229	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctagacgagttttctaatccCttctttgtgaattatgaaaa	6	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149924229C>A	ENST00000370390.3	+	14	1882	c.1725C>A	c.(1723-1725)ccC>ccA	p.P575P	MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000445323.2_Silent_p.P583P|MTMR1_ENST00000544228.1_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	575	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTAATCCCTTCTTTGTGA	0.343																																						ENST00000445323.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1747-1749)ccC>ccA		myotubularin related protein 1							159	140	147					X																	149924229		2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149924229C>A	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.1725C>A	X.37:g.149924229C>A						MTMR1_ENST00000538506.1_3'UTR|MTMR1_ENST00000370390.3_Silent_p.P575P|MTMR1_ENST00000541925.1_Silent_p.P481P|MTMR1_ENST00000544228.1_Silent_p.P575P	p.P583P			Q13613	MTMR1_HUMAN			15	1870	+	Acute lymphoblastic leukemia(192;6.56e-05)		575			Myotubularin phosphatase.		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1749C>A	CCDS14695.1																																																																																				0.343	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		82	235	1	0	9.04243e-43	1	1.10195e-42	82	235					A	149924229	C	A	149924229	2	1	79	1	0	0	0	0	0	0	0	1	9979	668	24	3		3	MTMR1	23	149924229	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	114443	149924229	5346331	21609	31926											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		9	328	0	0	0	1	0	9	328					A	150156360	G	A	150156360	2	1	79	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	232131	150156360	5114200	21610	31927											
PASD1	139135	broad.mit.edu	37	chrX	150832667	150832667	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gacccagtggacctggagttCtcggtggatcaggtggactc	15	10	2	0	rs147926578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150832667C>A	ENST00000370357.4	+	11	1163	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	306						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)					ACCTGGAGTTCTCGGTGGATC	0.582																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(916-918)ttC>ttA		PAS domain containing 1							107	90	96					X																	150832667		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150832667C>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.918C>A	X.37:g.150832667C>A	ENSP00000359382:p.Phe306Leu						p.F306L	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			11	1163	+	Acute lymphoblastic leukemia(192;6.56e-05)		306					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.918C>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297625	0.23650	.	.	ENSG00000166049	ENST00000370357	T	0.66815	-0.23	2.65	-5.3	0.02738	.	.	.	.	.	T	0.36331	0.0963	N	0.19112	0.55	0.09310	N	1	P	0.36837	0.571	B	0.29663	0.105	T	0.19647	-1.0299	9	0.27785	T	0.31	.	1.4193	0.02309	0.1607:0.3324:0.3202:0.1867	.	306	Q8IV76	PASD1_HUMAN	L	306	ENSP00000359382:F306L	ENSP00000359382:F306L	F	+	3	2	PASD1	150583323	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-3.997000	0.00317	-2.092000	0.00857	0.529000	0.55759	TTC		0.582	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		89	307	1	0	5.52034e-35	1	6.58082e-35	89	307					A	150832667	C	A	150832667	3	1	79	1	0	0	0	0	1	0	0	0	11513	912	32	3	956	3	PASD1	23	150832667	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	676307	150832667	4437893	21611	31928											
PRRG3	79057	broad.mit.edu	37	chrX	150868560	150868560	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccagggcaccatcgagCgagagtgcatggaggagatc	16	10	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150868560C>T	ENST00000370353.3	+	3	490	c.100C>T	c.(100-102)Cga>Tga	p.R34*	PRRG3_ENST00000538575.1_Nonsense_Mutation_p.R34*|PRRG3_ENST00000370354.1_Nonsense_Mutation_p.R42*			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	34	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CACCATCGAGCGAGAGTGCAT	0.562																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(100-102)Cga>Tga		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							86	76	79					X																	150868560		2203	4300	6503	SO:0001587	stop_gained	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150868560C>T	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.100C>T	X.37:g.150868560C>T	ENSP00000359378:p.Arg34*					PRRG3_ENST00000370354.1_Nonsense_Mutation_p.R42*|PRRG3_ENST00000538575.1_Nonsense_Mutation_p.R34*	p.R34*			Q9BZD7	TMG3_HUMAN			3	490	+	Acute lymphoblastic leukemia(192;6.56e-05)		34			Gla.		A1A523|A1A575|Q8N2N6	Nonsense_Mutation	SNP	ENST00000370353.3	37	c.100C>T	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251516	0.80135	.	.	ENSG00000130032	ENST00000448726;ENST00000538575;ENST00000370354;ENST00000370353	.	.	.	4.4	1.38	0.22167	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7443	5.4357	0.16480	0.3504:0.5428:0.0:0.1068	.	.	.	.	X	34;34;42;34	.	ENSP00000359378:R34X	R	+	1	2	PRRG3	150619216	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	2.395000	0.44459	0.768000	0.33290	-0.307000	0.09154	CGA		0.562	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		9	306	0	0	0	1	0	9	306					T	150868560	C	T	150868560	4	4	79	1	0	0	0	0	0	1	0	0	12654	760	27	1	106	1	PRRG3	23	150868560	Nonsense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	35893	150868560	4402000	21612	31929											
FATE1	89885	broad.mit.edu	37	chrX	150889958	150889958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaatttccaaggcatacGtttccattatgatcggtaag	9	8	0	1	rs138889158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150889958G>A	ENST00000370350.3	+	3	411	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	109						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)					CAAGGCATACGTTTCCATTAT	0.592													G|||	4	0.0010596	0.0	0.0	3775	,	,		14800	0.0		0.0	False		,,,				2504	0.0041					ENST00000370350.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15						c.(325-327)cGt>cAt		fetal and adult testis expressed 1		G	HIS/ARG	1,3834		0,1,0,1631,571	95	75	82		326	-1	0	X	dbSNP_134	82	2,6726		0,1,1,2427,1871	yes	missense	FATE1	NM_033085.2	29	0,2,1,4058,2442	AA,AG,A,GG,G		0.0297,0.0261,0.0284	probably-damaging	109/184	150889958	3,10560	2203	4300	6503	SO:0001583	missense	89885					endoplasmic reticulum|integral to membrane		g.chrX:150889958G>A	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.326G>A	X.37:g.150889958G>A	ENSP00000359375:p.Arg109His						p.R109H	NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN			3	411	+	Acute lymphoblastic leukemia(192;6.56e-05)		109						Missense_Mutation	SNP	ENST00000370350.3	37	c.326G>A	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344934	0.41498	2.61E-4	2.97E-4	ENSG00000147378	ENST00000370350	T	0.50548	0.74	3.86	-0.981	0.10269	.	1.771650	0.03809	N	0.265624	T	0.32406	0.0828	L	0.34521	1.04	0.09310	N	1	P	0.44627	0.839	B	0.32762	0.152	T	0.36432	-0.9748	10	0.56958	D	0.05	-1.8615	7.3918	0.26913	0.6058:0.0:0.3942:0.0	.	109	Q969F0	FATE1_HUMAN	H	109	ENSP00000359375:R109H	ENSP00000359375:R109H	R	+	2	0	FATE1	150640614	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.331000	0.19733	-0.382000	0.07870	0.483000	0.47432	CGT		0.592	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085		70	224	0	0	0	1	0	70	224					A	150889958	G	A	150889958	3	1	79	1	0	0	0	0	1	0	0	0	5718	1145	40	1	336	1	FATE1	23	150889958	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21398	150889958	4380602	21613	31930											
CNGA2	1260	broad.mit.edu	37	chrX	150911635	150911635	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactacatccacaccctgcaGttcaagctggatgtggcttc	8	13	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150911635G>A	ENST00000329903.4	+	6	693	c.660G>A	c.(658-660)caG>caA	p.Q220Q		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	220					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)					ACACCCTGCAGTTCAAGCTGG	0.522																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(658-660)caG>caA		cyclic nucleotide gated channel alpha 2							138	100	113					X																	150911635		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911635G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.660G>A	X.37:g.150911635G>A							p.Q220Q	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	693	+	Acute lymphoblastic leukemia(192;6.56e-05)		220					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.660G>A	CCDS14701.1																																																																																				0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		96	258	0	0	0	1	0	96	258					A	150911635	G	A	150911635	2	1	79	1	0	0	0	0	0	0	0	1	3606	1020	36	2		2	CNGA2	23	150911635	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	21677	150911635	4358925	21614	31931											
MAGEA4	4103	broad.mit.edu	37	chrX	151092439	151092439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccaagcacctcgcctgaCgcagagtccttgttccgaga	12	14	0	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	ENST00000360243.2	+	3	570	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D|MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370340.3_Silent_p.D101D	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	101										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCCTGACGCAGAGTCCT	0.557																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(301-303)gaC>gaT		melanoma antigen family A, 4							75	68	70					X																	151092439		2203	4300	6503	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092439C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.303C>T	X.37:g.151092439C>T						MAGEA4_ENST00000370337.4_Silent_p.D101D|MAGEA4_ENST00000276344.2_Silent_p.D101D|MAGEA4_ENST00000393921.1_Silent_p.D101D|MAGEA4_ENST00000370335.1_Silent_p.D101D|MAGEA4_ENST00000360243.2_Silent_p.D101D|MAGEA4_ENST00000393920.1_Silent_p.D101D	p.D101D			P43358	MAGA4_HUMAN			3	570	+	Acute lymphoblastic leukemia(192;6.56e-05)		101					Q14798	Silent	SNP	ENST00000360243.2	37	c.303C>T	CCDS14702.1																																																																																				0.557	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		98	344	0	0	0	1	0	98	344					T	151092439	C	T	151092439	2	4	79	1	0	0	0	0	0	0	0	1	9207	535	19	1		1	MAGEA4	23	151092439	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	180804	151092439	4178121	21615	31932											
GABRE	2564	broad.mit.edu	37	chrX	151124015	151124015	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaaggtgcccaacgtgGtcatggtcagaacagaggtg	15	7	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151124015G>A	ENST00000370328.3	-	8	1015	c.962C>T	c.(961-963)aCc>aTc	p.T321I	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.T321I	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	321					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T321I(1)|p.T208I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCCAACGTGGTCATGGTCAG	0.498																																						ENST00000370325.1																			2	Substitution - Missense(2)	p.T321I(1)|p.T208I(1)	lung(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(961-963)aCc>aTc		gamma-aminobutyric acid (GABA) A receptor, epsilon							108	92	98					X																	151124015		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151124015G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.962C>T	X.37:g.151124015G>A	ENSP00000359353:p.Thr321Ile					GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.T321I	p.T321I			P78334	GBRE_HUMAN			8	1015	-	Acute lymphoblastic leukemia(192;6.56e-05)		321					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.962C>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793592	0.70452	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93763	-3.28;-3.28	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000020	D	0.94751	0.8306	L	0.41415	1.275	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.95260	0.8368	10	0.87932	D	0	.	16.4778	0.84137	0.0:0.0:1.0:0.0	.	321	P78334	GBRE_HUMAN	I	321	ENSP00000359353:T321I;ENSP00000359350:T321I	ENSP00000359350:T321I	T	-	2	0	GABRE	150874671	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	9.869000	0.99810	2.498000	0.84270	0.600000	0.82982	ACC		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		83	257	0	0	0	1	0	83	257					A	151124015	G	A	151124015	3	1	79	1	0	0	0	0	1	0	0	0	6197	1261	44	2	566	2	GABRE	23	151124015	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	31576	151124015	4146545	21616	31933											
GABRE	2564	broad.mit.edu	37	chrX	151129810	151129810	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	attggaaatctgagcatgtgGagtgagcatccggcatcaat	12	7	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151129810G>A	ENST00000370328.3	-	5	644	c.591C>T	c.(589-591)ctC>ctT	p.L197L	GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370325.1_Silent_p.L197L|MIR452_ENST00000385020.1_RNA|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	197					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAGCATGTGGAGTGAGCATC	0.522																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(589-591)ctC>ctT		gamma-aminobutyric acid (GABA) A receptor, epsilon							133	121	125					X																	151129810		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151129810G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.591C>T	X.37:g.151129810G>A						GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Silent_p.L197L	p.L197L			P78334	GBRE_HUMAN			5	644	-	Acute lymphoblastic leukemia(192;6.56e-05)		197					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.591C>T	CCDS14703.1																																																																																				0.522	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		54	364	0	0	0	1	0	54	364					A	151129810	G	A	151129810	2	1	79	1	0	0	0	0	0	0	0	1	6197	1161	41	2		2	GABRE	23	151129810	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	5795	151129810	4140750	21617	31934											
GABRQ	55879	broad.mit.edu	37	chrX	151818234	151818234	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cggttgaagacatcatattaTtctgggatgacaatgggaac	11	6	2	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151818234T>G	ENST00000370306.2	+	6	660	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	214					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATCATATTATTCTGGGATGA	0.433																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(640-642)Ttc>Gtc		gamma-aminobutyric acid (GABA) A receptor, theta							158	129	139					X																	151818234		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818234T>G	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.640T>G	X.37:g.151818234T>G	ENSP00000359329:p.Phe214Val						p.F214V	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			6	660	+	Acute lymphoblastic leukemia(192;6.56e-05)		214					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.640T>G	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.096594	0.36952	.	.	ENSG00000147402	ENST00000370306	T	0.78246	-1.16	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.280140	0.25786	N	0.028304	T	0.56187	0.1968	N	0.03917	-0.325	0.30477	N	0.77273	P	0.43231	0.801	B	0.37780	0.258	T	0.62718	-0.6795	10	0.42905	T	0.14	.	12.9114	0.58182	0.0:0.0:0.0:1.0	.	214	Q9UN88	GBRT_HUMAN	V	214	ENSP00000359329:F214V	ENSP00000359329:F214V	F	+	1	0	GABRQ	151568890	1.000000	0.71417	0.861000	0.33841	0.128000	0.20619	4.927000	0.63440	1.957000	0.56846	0.486000	0.48141	TTC		0.433	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		93	376	0	0	0	1	0	93	376					G	151818234	T	G	151818234	3	3	79	1	0	0	0	0	1	0	0	0	6202	1493	52	4	662	4	GABRQ	23	151818234	Missense_Mutation	SNP	T	TCGA-IB-7651-01A-11D-2154-08	688424	151818234	3452326	21618	31935											
MAGEA3	4102	broad.mit.edu	37	chrX	151935444	151935444	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagcagcttcttgggAtcccccaagatactgtcttc	11	11	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151935444A>C	ENST00000393902.3	-	3	1290	c.723T>G	c.(721-723)gaT>gaG	p.D241E	MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	241	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCTTGGGATCCCCCAAGA	0.542																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(721-723)gaT>gaG		melanoma antigen family A, 3							147	140	143					X																	151935444		2202	4293	6495	SO:0001583	missense	4102							g.chrX:151935444A>C		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"melanoma-associated antigen 3", "antigen MZ2-D", "MAGE-3 antigen", "cancer/testis antigen family 1, member 3"	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.723T>G	X.37:g.151935444A>C	ENSP00000377480:p.Asp241Glu					MAGEA3_ENST00000370278.3_Missense_Mutation_p.D241E	p.D241E			P43357	MAGA3_HUMAN			3	1290	-	Acute lymphoblastic leukemia(192;6.56e-05)		241			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.723T>G	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.022220	0.00414	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.04551	3.6;3.6	1.42	-2.84	0.05751	.	0.209202	0.47852	N	0.000214	T	0.00784	0.0026	N	0.00329	-1.635	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	10	0.02654	T	1	.	2.0781	0.03628	0.41:0.2959:0.0:0.294	.	241	P43357	MAGA3_HUMAN	E	241	ENSP00000359301:D241E;ENSP00000377480:D241E	ENSP00000359301:D241E	D	-	3	2	MAGEA3	151686100	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.106000	0.03319	-0.868000	0.04058	-1.030000	0.02411	GAT		0.542	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		206	701	0	0	0	1	0	206	701					C	151935444	A	C	151935444	3	2	79	1	0	0	0	0	1	0	0	0	9206	330	12	4	225	4	MAGEA3	23	151935444	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	117210	151935444	3335116	21619	31936											
CETN2	1069	broad.mit.edu	37	chrX	151996394	151996394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacactgatcttaatagagGctggtctttttcatgatgcg	10	7	3	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151996394G>A	ENST00000370277.3	-	5	576	c.510C>T	c.(508-510)agC>agT	p.S170S	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	170	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATAGAGGCTGGTCTTTT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000370277.3																			0				breast(1)|lung(4)|prostate(1)|skin(1)	7						c.(508-510)agC>agT	Direct reversal of damage;Nucleotide excision repair (NER)	centrin, EF-hand protein, 2							168	146	154					X																	151996394		2203	4300	6503	SO:0001819	synonymous_variant	1069				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chrX:151996394G>A	X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"EF-hand domain containing"	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.510C>T	X.37:g.151996394G>A						CETN2_ENST00000493482.1_5'UTR	p.S170S	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN			5	576	-	Acute lymphoblastic leukemia(192;6.56e-05)		170			EF-hand 4.		B2R4T4|Q53XW1	Silent	SNP	ENST00000370277.3	37	c.510C>T	CCDS14716.1																																																																																				0.408	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061197.1	NM_004344		70	508	0	0	0	1	0	70	508					A	151996394	G	A	151996394	2	1	79	1	0	0	0	0	0	0	0	1	3284	1194	42	2		2	CETN2	23	151996394	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	60950	151996394	3274166	21620	31937											
NSDHL	50814	broad.mit.edu	37	chrX	152037363	152037363	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgatgagcccatccctttCtggacattcctgtctcgcat	7	13	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152037363C>A	ENST00000370274.3	+	8	1019	c.825C>A	c.(823-825)ttC>ttA	p.F275L	NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	275					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCCCTTTCTGGACATTCC	0.537																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(823-825)ttC>ttA		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						204	186	192					X																	152037363		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037363C>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	13398	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 31E, member 1"	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.825C>A	X.37:g.152037363C>A	ENSP00000359297:p.Phe275Leu					NSDHL_ENST00000440023.1_Missense_Mutation_p.F275L	p.F275L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1019	+	Acute lymphoblastic leukemia(192;6.56e-05)		275					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.825C>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612523	0.66672	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84516	-1.86;-1.86	4.4	2.61	0.31194	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	L	0.55103	1.725	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	D	0.85511	0.1197	10	0.44086	T	0.13	-3.6346	7.5523	0.27804	0.0:0.778:0.0:0.222	.	275	Q15738	NSDHL_HUMAN	L	275	ENSP00000359297:F275L;ENSP00000391854:F275L	ENSP00000359297:F275L	F	+	3	2	NSDHL	151788019	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.659000	0.46741	0.957000	0.37930	-0.245000	0.11935	TTC		0.537	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		339	1048	1	0	8.23087e-121	1	1.05982e-120	339	1048					A	152037363	C	A	152037363	3	1	79	1	0	0	0	0	1	0	0	0	10712	912	32	3	851	3	NSDHL	23	152037363	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	40969	152037363	3233197	21621	31938											
PNMA5	114824	broad.mit.edu	37	chrX	152159032	152159032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcgctaaaagaccttgCctgcacggtggcctgaggtg	14	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152159032C>T	ENST00000439251.1	-	2	1549	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T|PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	371					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGACCTTGCCTGCACGGTG	0.587																																						ENST00000439251.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1111-1113)Gca>Aca		paraneoplastic Ma antigen family member 5							85	75	78					X																	152159032		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152159032C>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"Paraneoplastic Ma antigens"	18743	protein-coding gene	gene with protein product	"paraneoplastic antigen family 5"	300916	"paraneoplastic antigen like 5"			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1111G>A	X.37:g.152159032C>T	ENSP00000388850:p.Ala371Thr					PNMA5_ENST00000361887.5_Missense_Mutation_p.A371T|PNMA5_ENST00000535214.1_Missense_Mutation_p.A371T|PNMA5_ENST00000452693.1_Missense_Mutation_p.A371T	p.A371T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1549	-	Acute lymphoblastic leukemia(192;6.56e-05)		371					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.1111G>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	10.48	1.361264	0.24684	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.08896	3.04;3.04;3.04;3.04	3.13	-0.979	0.10276	.	.	.	.	.	T	0.04452	0.0122	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.46898	-0.9158	9	0.16420	T	0.52	-24.3667	3.8085	0.08788	0.0:0.3323:0.3985:0.2692	.	371	Q96PV4	PNMA5_HUMAN	T	371	ENSP00000354834:A371T;ENSP00000445775:A371T;ENSP00000388850:A371T;ENSP00000392342:A371T	ENSP00000354834:A371T	A	-	1	0	PNMA5	151909688	0.005000	0.15991	0.001000	0.08648	0.028000	0.11728	-0.928000	0.03980	-0.376000	0.07943	-0.880000	0.02959	GCA		0.587	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		107	335	0	0	0	1	0	107	335					T	152159032	C	T	152159032	3	4	79	1	0	0	0	0	1	0	0	0	12198	739	26	2	239	2	PNMA5	23	152159032	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	121669	152159032	3111528	21622	31939											
ATP2B3	492	broad.mit.edu	37	chrX	152811581	152811581	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggccatggagagtagccagAccaaaggtaacgggcgccgc	16	11	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152811581A>T	ENST00000349466.2	+	7	1278	c.952A>T	c.(952-954)Acc>Tcc	p.T318S	ATP2B3_ENST00000263519.4_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000370181.2_Intron			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	318					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)					GAGTAGCCAGACCAAAGGTAA	0.642																																						ENST00000263519.4																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(952-954)Acc>Tcc		ATPase, Ca++ transporting, plasma membrane 3							69	55	60					X																	152811581		2201	4300	6501	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152811581A>T	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.952A>T	X.37:g.152811581A>T	ENSP00000343886:p.Thr318Ser					ATP2B3_ENST00000359149.3_Missense_Mutation_p.T318S|ATP2B3_ENST00000393842.1_Intron|ATP2B3_ENST00000370186.1_Intron|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T318S|ATP2B3_ENST00000370181.2_Intron	p.T318S	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN			6	1078	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		318					B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.952A>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945995	0.34377	.	.	ENSG00000067842	ENST00000349466;ENST00000359149;ENST00000263519	D;D;D	0.93247	-3.19;-3.19;-3.19	4.97	4.97	0.65823	ATPase, P-type, ATPase-associated domain (1);	1.660970	0.03744	N	0.255503	D	0.85630	0.5741	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60016	-0.7345	10	0.13470	T	0.59	-2.5058	12.7934	0.57547	1.0:0.0:0.0:0.0	.	318;318	Q16720;Q16720-2	AT2B3_HUMAN;.	S	318	ENSP00000343886:T318S;ENSP00000352062:T318S;ENSP00000263519:T318S	ENSP00000263519:T318S	T	+	1	0	ATP2B3	152464775	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.774000	0.91767	1.659000	0.50751	0.352000	0.21897	ACC		0.642	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		44	168	0	0	0	1	0	44	168					T	152811581	A	T	152811581	3	4	79	1	0	0	0	0	1	0	0	0	1142	275	10	5	974	5	ATP2B3	23	152811581	Missense_Mutation	SNP	A	TCGA-IB-7651-01A-11D-2154-08	652549	152811581	2458979	21623	31940											
PNCK	139728	broad.mit.edu	37	chrX	152937358	152937358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcccggtgcacgatccCcaggctgtgcaggtaggaga	16	11	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152937358C>T	ENST00000370150.1	-	5	569	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R|PNCK_ENST00000393831.2_Missense_Mutation_p.G131R|PNCK_ENST00000340888.3_Missense_Mutation_p.G131R			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662																																						ENST00000393831.2																			0				breast(2)|lung(3)|skin(1)	6						c.(391-393)Ggg>Agg		pregnancy up-regulated nonubiquitous CaM kinase							25	24	25					X																	152937358		2202	4296	6498	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937358C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.391G>A	X.37:g.152937358C>T	ENSP00000359169:p.Gly131Arg					PNCK_ENST00000370142.1_Missense_Mutation_p.G131R|PNCK_ENST00000447676.2_Missense_Mutation_p.G214R|PNCK_ENST00000370145.4_Missense_Mutation_p.G148R|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370150.1_Missense_Mutation_p.G131R|PNCK_ENST00000340888.3_Missense_Mutation_p.G131R	p.G131R	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN			5	825	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		131			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.391G>A		.	.	.	.	.	.	.	.	.	.	c	23.7	4.445474	0.84101	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101495	0.40554	N	0.001067	T	0.50735	0.1633	L	0.50919	1.6	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;0.989;0.989;0.989	T	0.53251	-0.8465	10	0.72032	D	0.01	-29.6904	16.1385	0.81506	0.0:1.0:0.0:0.0	.	158;214;148;131	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	R	131;131;131;131;148;214;131;131	ENSP00000340586:G131R;ENSP00000359169:G131R;ENSP00000377417:G131R;ENSP00000359161:G131R;ENSP00000359164:G148R;ENSP00000405950:G214R;ENSP00000415770:G131R;ENSP00000391772:G131R	ENSP00000340586:G131R	G	-	1	0	PNCK	152590552	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	7.744000	0.85034	2.060000	0.61445	0.529000	0.55759	GGG		0.662	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		24	97	0	0	0	1	0	24	97					T	152937358	C	T	152937358	3	4	79	1	0	0	0	0	1	0	0	0	12187	623	22	2	668	2	PNCK	23	152937358	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	125777	152937358	2333202	21624	31941											
SLC6A8	6535	broad.mit.edu	37	chrX	152960076	152960076	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtccttcttcaccccGctggtctgcatggtaagggc	12	13	3	0	rs201838389		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152960076G>A	ENST00000253122.5	+	11	2060	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC6A8_ENST00000430077.2_Silent_p.P413P|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	528					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCTTCACCCCGCTGGTCTGCA	0.652													G|||	2	0.000529801	0.0	0.0	3775	,	,		6348	0.0		0.002	False		,,,				2504	0.0					ENST00000253122.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(1582-1584)ccG>ccA		solute carrier family 6 (neurotransmitter transporter), member 8	Creatine(DB00148)						41	39	40					X																	152960076		2202	4294	6496	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152960076G>A		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"Solute carriers"	11055	protein-coding gene	gene with protein product	"creatine transporter"	300036	"solute carrier family 6 (neurotransmitter transporter, creatine), member 8"			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1584G>A	X.37:g.152960076G>A						SLC6A8_ENST00000430077.2_Silent_p.P413P|SLC6A8_ENST00000485324.1_3'UTR	p.P528P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN			11	2060	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		528					B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1584G>A	CCDS14726.1																																																																																				0.652	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			73	214	0	0	0	1	0	73	214					A	152960076	G	A	152960076	2	1	79	1	0	0	0	0	0	0	0	1	14740	1074	38	1		1	SLC6A8	23	152960076	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	22718	152960076	2310484	21625	31942											
PLXNB3	5365	broad.mit.edu	37	chrX	153032536	153032536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagctgcagctcgaggCcgtggctgtcactggccctg	14	16	1	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032536C>T	ENST00000361971.5	+	3	368	c.254C>T	c.(253-255)gCc>gTc	p.A85V	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A108V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	85	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGAGGCCGTGGCTGTC	0.642																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(322-324)gCc>gTc		plexin B3							38	32	34					X																	153032536		2202	4299	6501	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032536C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.254C>T	X.37:g.153032536C>T	ENSP00000355378:p.Ala85Val					PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A85V|PLXNB3_ENST00000538543.1_Intron	p.A108V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	594	+	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)		85			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.323C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	5.906	0.351217	0.11182	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04275	3.66;3.66	4.92	2.04	0.26737	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.943604	0.08769	N	0.896659	T	0.02610	0.0079	N	0.11313	0.125	0.09310	N	1	B;B	0.21688	0.059;0.007	B;B	0.28465	0.09;0.021	T	0.49818	-0.8899	10	0.19590	T	0.45	.	1.1318	0.01746	0.1506:0.3674:0.2593:0.2226	.	108;85	F5H773;Q9ULL4	.;PLXB3_HUMAN	V	108;85	ENSP00000442736:A108V;ENSP00000355378:A85V	ENSP00000355378:A85V	A	+	2	0	PLXNB3	152685730	0.000000	0.05858	0.036000	0.18154	0.099000	0.18886	-0.384000	0.07389	0.863000	0.35553	-0.296000	0.09543	GCC		0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			48	148	0	0	0	1	0	48	148					T	153032536	C	T	153032536	3	4	79	1	0	0	0	0	1	0	0	0	12167	739	26	2	378	2	PLXNB3	23	153032536	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	72460	153032536	2238024	21626	31943											
PLXNB3	5365	broad.mit.edu	37	chrX	153032615	153032615	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtgcccacaggcccaGctcactgacaatgccaacca	9	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032615G>T	ENST00000361971.5	+	3	447	c.333G>T	c.(331-333)caG>caT	p.Q111H	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.Q134H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	111	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGGCCCAGCTCACTGACA	0.697																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(400-402)caG>caT		plexin B3							19	17	18					X																	153032615		2197	4290	6487	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032615G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.333G>T	X.37:g.153032615G>T	ENSP00000355378:p.Gln111His					PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q111H|PLXNB3_ENST00000538543.1_Intron	p.Q134H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	673	+	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)		111			Sema.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.402G>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	7.906	0.735469	0.15574	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.04551	3.6;3.6	4.79	2.82	0.32997	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.549822	0.15044	N	0.283720	T	0.04679	0.0127	L	0.43152	1.355	0.24397	N	0.994723	B;B	0.21688	0.059;0.01	B;B	0.25506	0.061;0.034	T	0.28364	-1.0046	10	0.42905	T	0.14	.	3.9563	0.09391	0.0968:0.1546:0.5881:0.1605	.	134;111	F5H773;Q9ULL4	.;PLXB3_HUMAN	H	134;111	ENSP00000442736:Q134H;ENSP00000355378:Q111H	ENSP00000355378:Q111H	Q	+	3	2	PLXNB3	152685809	0.018000	0.18449	0.989000	0.46669	0.140000	0.21249	0.918000	0.28678	1.961000	0.56991	0.468000	0.43344	CAG		0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			31	79	1	0	7.26314e-15	1	7.90818e-15	31	79					T	153032615	G	T	153032615	3	4	79	1	0	0	0	0	1	0	0	0	12167	962	34	3	457	3	PLXNB3	23	153032615	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	79	153032615	2237945	21627	31944											
PLXNB3	5365	broad.mit.edu	37	chrX	153032912	153032912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatccgccagctggccggGtctcagcccttctccagcga	11	18	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032912G>A	ENST00000361971.5	+	3	744	c.630G>A	c.(628-630)ggG>ggA	p.G210G	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|U52111.14_ENST00000416854.1_RNA|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538966.1_Silent_p.G233G	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	210	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGCCGGGTCTCAGCCCT	0.716																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(697-699)ggG>ggA		plexin B3							12	12	12					X																	153032912		2183	4267	6450	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153032912G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.630G>A	X.37:g.153032912G>A						PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Silent_p.G210G|PLXNB3_ENST00000538543.1_Intron	p.G233G	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			4	970	+	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)		210			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.699G>A	CCDS14729.1																																																																																				0.716	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			21	78	0	0	0	1	0	21	78					A	153032912	G	A	153032912	2	1	79	1	0	0	0	0	0	0	0	1	12167	1248	44	2		2	PLXNB3	23	153032912	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	297	153032912	2237648	21628	31945											
PLXNB3	5365	broad.mit.edu	37	chrX	153037356	153037356	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccctgagggaggcttggCcctcaccatcctgggctcca	11	17	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153037356C>T	ENST00000361971.5	+	15	2669	c.2555C>T	c.(2554-2556)gCc>gTc	p.A852V	PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A875V	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	852	IPT/TIG 1.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCTTGGCCCTCACCATC	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2623-2625)gCc>gTc		plexin B3							30	24	26					X																	153037356		2179	4285	6464	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153037356C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2555C>T	X.37:g.153037356C>T	ENSP00000355378:p.Ala852Val					PLXNB3_ENST00000538776.1_Missense_Mutation_p.A505V|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A462V|PLXNB3_ENST00000361971.5_Missense_Mutation_p.A852V|PLXNB3_ENST00000538543.1_3'UTR	p.A875V	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			16	2895	+	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)		852			IPT/TIG 1.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.2624C>T	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	C	0.573	-0.840269	0.02692	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.96	3.16	0.36331	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.345193	0.28109	N	0.016566	T	0.54271	0.1848	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.16802	0.002;0.019;0.002;0.002	B;B;B;B	0.18871	0.006;0.023;0.002;0.006	T	0.40079	-0.9582	10	0.27785	T	0.31	.	9.0453	0.36343	0.0:0.8066:0.0:0.1934	.	505;534;875;852	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	V	875;852;505;462	ENSP00000442736:A875V;ENSP00000355378:A852V;ENSP00000445569:A505V;ENSP00000441919:A462V	ENSP00000355378:A852V	A	+	2	0	PLXNB3	152690550	0.000000	0.05858	0.962000	0.40283	0.003000	0.03518	0.759000	0.26461	0.875000	0.35847	0.513000	0.50165	GCC		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			32	120	0	0	0	1	0	32	120					T	153037356	C	T	153037356	3	4	79	1	0	0	0	0	1	0	0	0	12167	739	26	2	2727	2	PLXNB3	23	153037356	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	4444	153037356	2233204	21629	31946											
PLXNB3	5365	broad.mit.edu	37	chrX	153038807	153038807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctcgccagccccttccGctacaccgccaacccccagc	6	23	0	0	rs373016226		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153038807G>A	ENST00000361971.5	+	18	3143	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1033H	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1010	IPT/TIG 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTTCCGCTACACCGCC	0.692																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(3097-3099)cGc>cAc		plexin B3		G	HIS/ARG,HIS/ARG	0,3811		0,0,1626,559	32	26	28		3029,3098	-9.6	0.6	X		28	1,6716		0,1,2426,1863	no	missense,missense	PLXNB3	NM_005393.2,NM_001163257.1	29,29	0,1,4052,2422	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign	1010/1910,1033/1933	153038807	1,10527	2185	4290	6475	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153038807G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3029G>A	X.37:g.153038807G>A	ENSP00000355378:p.Arg1010His					PLXNB3_ENST00000538776.1_Missense_Mutation_p.R663H|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R620H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1010H	p.R1033H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			19	3369	+	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)		1010			IPT/TIG 3.		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3098G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.286038	0.23478	0.0	1.49E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	4.94	-9.61	0.00550	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.850231	0.10782	N	0.634810	T	0.50154	0.1599	N	0.11000	0.08	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.09377	0.002;0.003;0.004	T	0.33979	-0.9847	10	0.40728	T	0.16	.	7.8288	0.29330	0.2055:0.0935:0.6149:0.0861	.	663;1033;1010	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	H	1033;1010;663;620	ENSP00000442736:R1033H;ENSP00000355378:R1010H;ENSP00000445569:R663H;ENSP00000441919:R620H	ENSP00000355378:R1010H	R	+	2	0	PLXNB3	152692001	0.000000	0.05858	0.592000	0.28758	0.389000	0.30415	-0.818000	0.04467	-2.030000	0.00929	-0.422000	0.05995	CGC		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			20	84	0	0	0	1	0	20	84					A	153038807	G	A	153038807	3	1	79	1	0	0	0	0	1	0	0	0	12167	1087	38	1	3213	1	PLXNB3	23	153038807	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1451	153038807	2231753	21630	31947											
IDH3G	3421	broad.mit.edu	37	chrX	153053284	153053284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccccatgcacacctcatgCtccaggctgctgtactcgcc	7	20	1	0	rs148318932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153053284C>A	ENST00000217901.5	-	7	730	c.534G>T	c.(532-534)gaG>gaT	p.E178D	IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D|IDH3G_ENST00000370092.3_Missense_Mutation_p.E178D	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	178					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	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)					ACACCTCATGCTCCAGGCTGC	0.592																																						ENST00000370092.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17						c.(532-534)gaG>gaT		isocitrate dehydrogenase 3 (NAD+) gamma	NADH(DB00157)						112	95	101					X																	153053284		2203	4300	6503	SO:0001583	missense	3421				carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chrX:153053284C>A		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.534G>T	X.37:g.153053284C>A	ENSP00000217901:p.Glu178Asp					IDH3G_ENST00000217901.5_Missense_Mutation_p.E178D|IDH3G_ENST00000427365.2_Missense_Mutation_p.E120D|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370093.1_Missense_Mutation_p.E178D	p.E178D	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN			7	719	-	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)		178					E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	37	c.534G>T	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127497	0.77549	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000393771;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.68	5.59	2.44	0.29823	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	H	0.96080	3.765	0.54753	D	0.99998	D;D	0.89917	1.0;0.992	D;D	0.87578	0.998;0.983	T	0.79792	-0.1654	10	0.87932	D	0	.	9.0405	0.36314	0.0:0.6392:0.0:0.3608	.	178;178	E9PDD5;P51553	.;IDH3G_HUMAN	D	178;178;178;120;74;155;118	ENSP00000359110:E178D;ENSP00000217901:E178D;ENSP00000359111:E178D;ENSP00000408529:E120D;ENSP00000401862:E155D;ENSP00000402747:E118D	ENSP00000217901:E178D	E	-	3	2	IDH3G	152706478	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.725000	0.25970	0.545000	0.28902	0.529000	0.55759	GAG		0.592	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27			20	710	1	0	3.5997e-14	1	3.90403e-14	20	710					A	153053284	C	A	153053284	3	1	79	1	0	0	0	0	1	0	0	0	7528	796	28	3	738	3	IDH3G	23	153053284	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	14477	153053284	2217276	21631	31948											
AVPR2	554	broad.mit.edu	37	chrX	153172136	153172136	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgggtccccaagatgagtCctgcaccaccgccagctcct	9	18	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153172136C>A	ENST00000358927.2	+	4	1279	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y|ARHGAP4_ENST00000467421.1_5'Flank|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	357					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAAGATGAGTCCTGCACCACC	0.602																																						ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(1069-1071)tCc>tAc		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						47	44	45					X																	153172136		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153172136C>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.1070C>A	X.37:g.153172136C>A	ENSP00000351805:p.Ser357Tyr					AVPR2_ENST00000337474.5_Missense_Mutation_p.S357Y|AVPR2_ENST00000370049.1_3'UTR	p.S357Y			P30518	V2R_HUMAN			4	1279	+	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)		357					C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.1070C>A	CCDS14735.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.76|13.76	2.334503|2.334503	0.41297|0.41297	.|.	.|.	ENSG00000126895|ENSG00000126895	ENST00000430697|ENST00000358927;ENST00000337474	T|T;T	0.77489|0.76578	-1.1|-1.03;-1.03	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.370985	.|0.27986	.|N	.|0.017046	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.72894|0.72894	2.215|2.215	0.41268|0.41268	D|D	0.986824|0.986824	.|D	.|0.76494	.|0.999	.|D	.|0.65987	.|0.94	D|D	0.88426|0.88426	0.3032|0.3032	7|10	0.56958|0.87932	D|D	0.05|0	-8.3004|-8.3004	15.0865|15.0865	0.72158|0.72158	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|357	.|P30518	.|V2R_HUMAN	T|Y	328|357	ENSP00000393513:P328T|ENSP00000351805:S357Y;ENSP00000338072:S357Y	ENSP00000393513:P328T|ENSP00000338072:S357Y	P|S	+|+	1|2	0|0	AVPR2|AVPR2	152825330|152825330	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.240000|0.240000	0.25518|0.25518	6.638000|6.638000	0.74309|0.74309	1.880000|1.880000	0.54463|0.54463	0.418000|0.418000	0.28097|0.28097	CCT|TCC		0.602	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			98	243	1	0	7.43734e-37	1	8.91631e-37	98	243					A	153172136	C	A	153172136	3	1	79	1	0	0	0	0	1	0	0	0	1234	855	30	3	1100	3	AVPR2	23	153172136	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	118852	153172136	2098424	21632	31949											
RENBP	5973	broad.mit.edu	37	chrX	153208501	153208501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcctgcacccagtggaCgatctgatccatcatctcca	7	16	3	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153208501C>T	ENST00000393700.3	-	6	573	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000412763.1_Missense_Mutation_p.V165I	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	165					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)	ACCCAGTGGACGATCTGATCC	0.687																																						ENST00000412763.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(493-495)Gtc>Atc		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						19	16	17					X																	153208501		2195	4286	6481	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153208501C>T		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.493G>A	X.37:g.153208501C>T	ENSP00000377303:p.Val165Ile					RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.V151I|RENBP_ENST00000393700.3_Missense_Mutation_p.V165I	p.V165I			P51606	RENBP_HUMAN			6	662	-	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)		165					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.493G>A	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	0.572	-0.840675	0.02692	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.29397	1.57;1.57;1.57	3.92	-1.74	0.08056	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.663319	0.14678	N	0.304911	T	0.16471	0.0396	N	0.20401	0.57	0.09310	N	1	B;B	0.13594	0.008;0.006	B;B	0.11329	0.004;0.006	T	0.24261	-1.0165	10	0.23891	T	0.37	-12.8598	9.9145	0.41425	0.0:0.4931:0.0:0.5069	.	165;165	P51606-2;P51606	.;RENBP_HUMAN	I	165;165;151	ENSP00000377303:V165I;ENSP00000387811:V165I;ENSP00000359014:V151I	ENSP00000359014:V151I	V	-	1	0	RENBP	152861695	0.000000	0.05858	0.506000	0.27664	0.123000	0.20343	0.222000	0.17699	-0.396000	0.07703	0.183000	0.17082	GTC		0.687	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		47	153	0	0	0	1	0	47	153					T	153208501	C	T	153208501	3	4	79	1	0	0	0	0	1	0	0	0	13275	536	19	1	814	1	RENBP	23	153208501	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	36365	153208501	2062059	21633	31950											
HCFC1	3054	broad.mit.edu	37	chrX	153219959	153219959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggtggtgcctgtctcGtgggtctcacatggtgggtt	17	7	2	0	rs368228709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153219959G>A	ENST00000310441.7	-	17	4857	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H	HCFC1_ENST00000354233.3_Silent_p.H1228H|HCFC1_ENST00000369984.4_Silent_p.H1297H	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1297					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTGTCTCGTGGGTCTCAC	0.662																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3889-3891)caC>caT		host cell factor C1 (VP16-accessory protein)		G		1,3771		0,0,1,1601,569	99	112	108		3891	-2.2	1	X		108	0,6616		0,0,0,2397,1822	no	coding-synonymous	HCFC1	NM_005334.2		0,0,1,3998,2391	AA,AG,A,GG,G		0.0,0.0265,0.0096		1297/2036	153219959	1,10387	2171	4219	6390	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153219959G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3891C>T	X.37:g.153219959G>A						HCFC1_ENST00000369984.4_Silent_p.H1297H|HCFC1_ENST00000354233.3_Silent_p.H1228H	p.H1297H	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			17	4857	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1297					Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.3891C>T	CCDS44020.1																																																																																				0.662	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		231	781	0	0	0	1	0	231	781					A	153219959	G	A	153219959	2	1	79	1	0	0	0	0	0	0	0	1	7021	1136	40	1		1	HCFC1	23	153219959	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	11458	153219959	2050601	21634	31951											
HCFC1	3054	broad.mit.edu	37	chrX	153221812	153221812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgctgtggccccccgcccCggcaaggctggtggagacgg	17	14	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153221812C>T	ENST00000310441.7	-	16	3652	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R|HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	896	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCGCCCCGGCAAGGCTG	0.632																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2686-2688)Ggg>Agg		host cell factor C1 (VP16-accessory protein)							78	88	84					X																	153221812		2186	4260	6446	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153221812C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2686G>A	X.37:g.153221812C>T	ENSP00000309555:p.Gly896Arg					HCFC1_ENST00000369984.4_Missense_Mutation_p.G896R|HCFC1_ENST00000354233.3_Missense_Mutation_p.G827R	p.G896R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			16	3652	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		896			Interaction with GABP2.|Interaction with ZBTB17.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2686G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944006	0.73672	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03831	3.91;3.97;3.79	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.12561	0.0305	L	0.27053	0.805	0.53005	D	0.999962	D	0.89917	1.0	D	0.69307	0.963	T	0.04607	-1.0939	10	0.72032	D	0.01	.	16.8335	0.85951	0.0:1.0:0.0:0.0	.	896	P51610	HCFC1_HUMAN	R	896;896;827	ENSP00000309555:G896R;ENSP00000359001:G896R;ENSP00000346174:G827R	ENSP00000309555:G896R	G	-	1	0	HCFC1	152875006	1.000000	0.71417	0.651000	0.29564	0.119000	0.20118	7.373000	0.79623	2.236000	0.73375	0.529000	0.55759	GGG		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		126	464	0	0	0	1	0	126	464					T	153221812	C	T	153221812	3	4	79	1	0	0	0	0	1	0	0	0	7021	652	23	1	3465	1	HCFC1	23	153221812	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1853	153221812	2048748	21635	31952											
HCFC1	3054	broad.mit.edu	37	chrX	153223480	153223480	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacccatcactcaccagaGcactgcctcctgggacagag	9	16	2	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153223480G>A	ENST00000310441.7	-	11	2990	c.2024C>T	c.(2023-2025)gCt>gTt	p.A675V	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	675	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACCAGAGCACTGCCTCC	0.642																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2023-2025)gCt>gTt		host cell factor C1 (VP16-accessory protein)							36	37	37					X																	153223480		2086	4193	6279	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153223480G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2024C>T	X.37:g.153223480G>A	ENSP00000309555:p.Ala675Val					HCFC1_ENST00000354233.3_Missense_Mutation_p.A606V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A675V	p.A675V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			11	2990	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		675			Interaction with SIN3A.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2024C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635243	0.87760	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03242	4.02;4.0;4.0	5.43	5.43	0.79202	.	0.062535	0.64402	D	0.000003	T	0.03390	0.0098	N	0.19112	0.55	0.37493	D	0.916457	B	0.34103	0.437	B	0.30401	0.115	T	0.59220	-0.7495	10	0.23891	T	0.37	.	16.9627	0.86277	0.0:0.0:1.0:0.0	.	675	P51610	HCFC1_HUMAN	V	675;675;606	ENSP00000309555:A675V;ENSP00000359001:A675V;ENSP00000346174:A606V	ENSP00000309555:A675V	A	-	2	0	HCFC1	152876674	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.272000	0.95707	2.268000	0.75426	0.544000	0.68410	GCT		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		45	157	0	0	0	1	0	45	157					A	153223480	G	A	153223480	3	1	79	1	0	0	0	0	1	0	0	0	7021	971	34	2	4147	2	HCFC1	23	153223480	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1668	153223480	2047080	21636	31953											
TMEM187	8269	broad.mit.edu	37	chrX	153247784	153247784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgaaggacgtgttcgcaGccatggccctgctctatggc	12	13	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153247784G>A	ENST00000369982.4	+	2	1018	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	91						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGTTCGCAGCCATGGCCCT	0.682																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(271-273)Gcc>Acc		transmembrane protein 187							32	23	26					X																	153247784		2200	4298	6498	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247784G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"chromosome X open reading frame 12"	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.271G>A	X.37:g.153247784G>A	ENSP00000358999:p.Ala91Thr						p.A91T	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1018	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		91					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.271G>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	6.785	0.513782	0.12944	.	.	ENSG00000177854	ENST00000369982	T	0.23147	1.92	4.27	-1.51	0.08664	.	1.777300	0.04247	U	0.337950	T	0.18467	0.0443	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.17745	-1.0359	10	0.27785	T	0.31	.	0.6656	0.00850	0.4055:0.1278:0.2049:0.2618	.	91	Q14656	TM187_HUMAN	T	91	ENSP00000358999:A91T	ENSP00000358999:A91T	A	+	1	0	TMEM187	152900978	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.160000	0.10041	-0.605000	0.05753	0.436000	0.28706	GCC		0.682	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		43	123	0	0	0	1	0	43	123					A	153247784	G	A	153247784	3	1	79	1	0	0	0	0	1	0	0	0	16161	971	34	2	273	2	TMEM187	23	153247784	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	24304	153247784	2022776	21637	31954											
TMEM187	8269	broad.mit.edu	37	chrX	153248033	153248033	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgctcacgtggtggccGctgtggggcaggcgctgcgc	20	11	1	0	rs368361749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153248033G>A	ENST00000369982.4	+	2	1267	c.520G>A	c.(520-522)Gct>Act	p.A174T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	174						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGTGGCCGCTGTGGGGCA	0.637																																						ENST00000369982.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5						c.(520-522)Gct>Act		transmembrane protein 187		G	THR/ALA	0,3835		0,0,0,1632,571	49	38	42		520	0.9	0	X		42	2,6726		0,1,1,2427,1871	no	missense	TMEM187	NM_003492.2	58	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	possibly-damaging	174/262	153248033	2,10561	2203	4300	6503	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153248033G>A	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"chromosome X open reading frame 12"	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.520G>A	X.37:g.153248033G>A	ENSP00000358999:p.Ala174Thr						p.A174T	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN			2	1267	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		174					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.520G>A	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215736	0.39102	0.0	2.97E-4	ENSG00000177854	ENST00000369982	T	0.29917	1.55	4.65	0.902	0.19290	.	0.311733	0.18440	N	0.141173	T	0.20740	0.0499	L	0.50919	1.6	0.09310	N	1	P	0.39964	0.697	B	0.27170	0.077	T	0.06899	-1.0801	10	0.59425	D	0.04	.	8.624	0.33877	0.3436:0.0:0.6564:0.0	.	174	Q14656	TM187_HUMAN	T	174	ENSP00000358999:A174T	ENSP00000358999:A174T	A	+	1	0	TMEM187	152901227	0.519000	0.26242	0.000000	0.03702	0.017000	0.09413	3.037000	0.49775	-0.247000	0.09597	-0.422000	0.05995	GCT		0.637	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		39	137	0	0	0	1	0	39	137					A	153248033	G	A	153248033	3	1	79	1	0	0	0	0	1	0	0	0	16161	1087	38	1	522	1	TMEM187	23	153248033	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	249	153248033	2022527	21638	31955											
FLNA	2316	broad.mit.edu	37	chrX	153580292	153580292	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacaccacaggagccgtcCttgcggtcctcaaaagagat	10	14	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153580292C>A	ENST00000369850.3	-	42	7103	c.6867G>T	c.(6865-6867)aaG>aaT	p.K2289N	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000422373.1_Missense_Mutation_p.K2281N|FLNA_ENST00000369856.3_Missense_Mutation_p.K422N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2289					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)					AGGAGCCGTCCTTGCGGTCCT	0.622																																						ENST00000422373.1																			0				breast(6)	6						c.(6841-6843)aaG>aaT		filamin A, alpha							48	51	50					X																	153580292		1956	4149	6105	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153580292C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6867G>T	X.37:g.153580292C>A	ENSP00000358866:p.Lys2289Asn					FLNA_ENST00000344736.4_Missense_Mutation_p.K2249N|FLNA_ENST00000360319.4_Missense_Mutation_p.K2281N|FLNA_ENST00000369856.3_Missense_Mutation_p.K422N|FLNA_ENST00000369850.3_Missense_Mutation_p.K2289N	p.K2281N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			41	7091	-	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)		2289					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.6843G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998200	0.35226	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736;ENST00000444578	D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	5.19	4.33	0.51752	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94964	0.8371	M	0.82056	2.57	0.51233	D	0.999918	D;P;P;P	0.62365	0.991;0.95;0.797;0.797	D;P;P;P	0.64042	0.921;0.481;0.476;0.476	D	0.94464	0.7679	10	0.72032	D	0.01	.	9.884	0.41251	0.0:0.7734:0.0:0.2266	.	422;2281;2289;2289	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	N	2281;1957;2281;2289;422;2249;229	ENSP00000353467:K2281N;ENSP00000416926:K2281N;ENSP00000358866:K2289N;ENSP00000358872:K422N;ENSP00000358863:K2249N;ENSP00000397824:K229N	ENSP00000358863:K2249N	K	-	3	2	FLNA	153233486	0.900000	0.30661	1.000000	0.80357	0.414000	0.31173	0.006000	0.13152	0.992000	0.38840	-0.297000	0.09499	AAG		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			76	246	1	0	5.21738e-30	1	6.11032e-30	76	246					A	153580292	C	A	153580292	3	1	79	1	0	0	0	0	1	0	0	0	5958	680	24	3	1104	3	FLNA	23	153580292	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	332259	153580292	1690268	21639	31956											
FLNA	2316	broad.mit.edu	37	chrX	153588685	153588685	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagcacttgactttggatgCgtcaaagcagggaaccacgt	12	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153588685C>A	ENST00000369850.3	-	22	3714	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S|FLNA_ENST00000422373.1_Missense_Mutation_p.A1160S|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1160					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)					ACTTTGGATGCGTCAAAGCAG	0.652											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(3478-3480)Gca>Tca		filamin A, alpha							49	58	55					X																	153588685		2114	4181	6295	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153588685C>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3478G>T	X.37:g.153588685C>A	ENSP00000358866:p.Ala1160Ser		OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000344736.4_Missense_Mutation_p.A1160S|FLNA_ENST00000360319.4_Missense_Mutation_p.A1160S|FLNA_ENST00000369850.3_Missense_Mutation_p.A1160S	p.A1160S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			22	3726	-	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)		1160					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3478G>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	7.361	0.624820	0.14193	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	4.92	3.08	0.35506	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.066241	0.64402	D	0.000014	D	0.88577	0.6474	M	0.72894	2.215	0.20307	N	0.999911	B;B	0.33826	0.427;0.002	B;B	0.43155	0.41;0.018	T	0.80865	-0.1191	10	0.39692	T	0.17	.	14.6502	0.68792	0.0:0.4961:0.5039:0.0	.	1160;1160	P21333-2;P21333	.;FLNA_HUMAN	S	1160;1133;1160;1160;1160	ENSP00000353467:A1160S;ENSP00000416926:A1160S;ENSP00000358866:A1160S;ENSP00000358863:A1160S	ENSP00000358863:A1160S	A	-	1	0	FLNA	153241879	0.015000	0.18098	0.046000	0.18839	0.301000	0.27625	0.391000	0.20784	0.871000	0.35750	0.525000	0.51046	GCA		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			73	241	1	0	2.48295e-43	1	3.03066e-43	73	241					A	153588685	C	A	153588685	3	1	79	1	0	0	0	0	1	0	0	0	5958	768	27	3	4573	3	FLNA	23	153588685	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	8393	153588685	1681875	21640	31957											
FLNA	2316	broad.mit.edu	37	chrX	153590625	153590625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccagtgcgactgaggcCagggccctcggccttcacct	11	17	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153590625C>T	ENST00000369850.3	-	18	2877	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S|FLNA_ENST00000422373.1_Missense_Mutation_p.G881S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	881					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)					CGACTGAGGCCAGGGCCCTCG	0.662																																						ENST00000422373.1																			0				breast(6)	6						c.(2641-2643)Ggc>Agc		filamin A, alpha							68	71	70					X																	153590625		2071	4180	6251	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590625C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2641G>A	X.37:g.153590625C>T	ENSP00000358866:p.Gly881Ser					FLNA_ENST00000344736.4_Missense_Mutation_p.G881S|FLNA_ENST00000360319.4_Missense_Mutation_p.G881S|FLNA_ENST00000369850.3_Missense_Mutation_p.G881S	p.G881S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			18	2889	-	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)		881					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2641G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781649	0.90282	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.97256	0.9103	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98623	1.0668	10	0.87932	D	0	.	17.5374	0.87835	0.0:1.0:0.0:0.0	.	881;881	P21333-2;P21333	.;FLNA_HUMAN	S	881;854;881;881;881	ENSP00000353467:G881S;ENSP00000416926:G881S;ENSP00000358866:G881S;ENSP00000358863:G881S	ENSP00000358863:G881S	G	-	1	0	FLNA	153243819	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.715000	0.84713	2.156000	0.67533	0.529000	0.55759	GGC		0.662	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			110	382	0	0	0	1	0	110	382					T	153590625	C	T	153590625	3	4	79	1	0	0	0	0	1	0	0	0	5958	594	21	2	5426	2	FLNA	23	153590625	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1940	153590625	1679935	21641	31958											
FLNA	2316	broad.mit.edu	37	chrX	153592400	153592400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggctcaccctgaaggggCtgttggggatgctgacgcct	16	10	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592400C>T	ENST00000369850.3	-	15	2506	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N|FLNA_ENST00000422373.1_Missense_Mutation_p.S757N	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	757					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)					CCTGAAGGGGCTGTTGGGGAT	0.572																																						ENST00000422373.1																			0				breast(6)	6						c.(2269-2271)aGc>aAc		filamin A, alpha							93	100	98					X																	153592400		2086	4180	6266	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592400C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2270G>A	X.37:g.153592400C>T	ENSP00000358866:p.Ser757Asn					FLNA_ENST00000344736.4_Missense_Mutation_p.S757N|FLNA_ENST00000360319.4_Missense_Mutation_p.S757N|FLNA_ENST00000369850.3_Missense_Mutation_p.S757N	p.S757N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			15	2518	-	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)		757					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2270G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839016	0.91117	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.95	4.95	0.65309	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96358	0.8812	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97453	1.0029	10	0.87932	D	0	.	17.4666	0.87634	0.0:1.0:0.0:0.0	.	757;757	P21333-2;P21333	.;FLNA_HUMAN	N	757;730;757;757;757	ENSP00000353467:S757N;ENSP00000416926:S757N;ENSP00000358866:S757N;ENSP00000358863:S757N	ENSP00000358863:S757N	S	-	2	0	FLNA	153245594	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.815000	0.86186	2.049000	0.60858	0.525000	0.51046	AGC		0.572	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			36	766	0	0	0	1	0	36	766					T	153592400	C	T	153592400	3	4	79	1	0	0	0	0	1	0	0	0	5958	797	28	2	5809	2	FLNA	23	153592400	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	1775	153592400	1678160	21642	31959											
FLNA	2316	broad.mit.edu	37	chrX	153592426	153592426	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggatgctgacgcctccccaGgacaccatggctgtgtgctt	13	13	0	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592426G>T	ENST00000369850.3	-	15	2480	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S|FLNA_ENST00000422373.1_Silent_p.S748S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	748					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)					CGCCTCCCCAGGACACCATGG	0.597																																						ENST00000422373.1																			0				breast(6)	6						c.(2242-2244)tcC>tcA		filamin A, alpha							83	90	87					X																	153592426		2079	4189	6268	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592426G>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2244C>A	X.37:g.153592426G>T						FLNA_ENST00000344736.4_Silent_p.S748S|FLNA_ENST00000360319.4_Silent_p.S748S|FLNA_ENST00000369850.3_Silent_p.S748S	p.S748S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			15	2492	-	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)		748					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.2244C>A	CCDS48194.1																																																																																				0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			147	553	1	0	8.60981e-72	1	1.0949e-71	147	553					T	153592426	G	T	153592426	2	4	79	1	0	0	0	0	0	0	0	1	5958	987	35	3		3	FLNA	23	153592426	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	26	153592426	1678134	21643	31960											
RPL10	6134	broad.mit.edu	37	chrX	153627922	153627922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcagatgaatatgagcaGctgtcctctgaaggtaaggc	13	7	2	4			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153627922G>A	ENST00000369817.2	+	5	753	c.177G>A	c.(175-177)caG>caA	p.Q59Q	RPL10_ENST00000424325.2_Silent_p.Q59Q|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Silent_p.Q8Q			P27635	RL10_HUMAN	ribosomal protein L10	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)	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)					AATATGAGCAGCTGTCCTCTG	0.507																																						ENST00000424325.2																			0				large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(175-177)caG>caA		ribosomal protein L10							108	106	107					X																	153627922		2203	4300	6503	SO:0001819	synonymous_variant	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153627922G>A	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.177G>A	X.37:g.153627922G>A						RPL10_ENST00000406022.2_Silent_p.Q8Q|RPL10_ENST00000369817.2_Silent_p.Q59Q	p.Q59Q	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN			4	365	+	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)		59					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Silent	SNP	ENST00000369817.2	37	c.177G>A	CCDS14746.1																																																																																				0.507	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013		122	365	0	0	0	1	0	122	365					A	153627922	G	A	153627922	2	1	79	1	0	0	0	0	0	0	0	1	13604	962	34	2		2	RPL10	23	153627922	Silent	SNP	G	TCGA-IB-7651-01A-11D-2154-08	35496	153627922	1642638	21644	31961											
TAZ	1774	broad.mit.edu	37	chrX	153641878	153641878	+	5'Flank	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acactcccacttcttcagctTgggcaagtgtgtgcctgtgt	10	12	2	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153641878T>G	ENST00000393638.1	-	0	0				TAZ_ENST00000475699.1_Missense_Mutation_p.L115W|TAZ_ENST00000299328.5_Missense_Mutation_p.L115W|TAZ_ENST00000351413.4_Missense_Mutation_p.L115W|TAZ_ENST00000350743.4_Missense_Mutation_p.L115W|TAZ_ENST00000369776.4_Missense_Mutation_p.L90W|TAZ_ENST00000369790.4_Missense_Mutation_p.L115W|DNASE1L1_ENST00000369809.1_5'Flank	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTTCAGCTTGGGCAAGTGT	0.592																																						ENST00000299328.5																			0				lung(1)	1						c.(343-345)tTg>tGg		tafazzin							114	86	96					X																	153641878		2203	4300	6503	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153641878T>G	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153641878T>G	Exception_encountered					TAZ_ENST00000369790.4_Missense_Mutation_p.L115W|TAZ_ENST00000351413.4_Missense_Mutation_p.L115W|TAZ_ENST00000369776.4_Missense_Mutation_p.L90W|TAZ_ENST00000350743.4_Missense_Mutation_p.L115W	p.L115W	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			4	633	+	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)		115					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.344T>G	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109567	0.77096	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48;-4.48	5.8	5.8	0.92144	Phospholipid/glycerol acyltransferase (2);	0.077823	0.51477	D	0.000095	D	0.97532	0.9192	L	0.52206	1.635	0.41950	D	0.990653	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;1.0;0.844;1.0	D;D;D;D;P;D	0.91635	0.997;0.999;0.995;0.997;0.645;0.999	D	0.97903	1.0304	10	0.51188	T	0.08	-0.0443	12.9201	0.58226	0.0:0.0:0.0:1.0	.	133;90;115;115;115;115	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	W	115;133;115;115;133;115;90;115;115	ENSP00000358805:L115W;ENSP00000411182:L133W;ENSP00000299328:L115W;ENSP00000338891:L115W;ENSP00000397388:L133W;ENSP00000218246:L115W;ENSP00000358791:L90W;ENSP00000398193:L115W;ENSP00000419854:L115W	ENSP00000299328:L115W	L	+	2	0	TAZ	153295072	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	5.795000	0.69074	1.959000	0.56917	0.478000	0.44815	TTG		0.592	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			68	281	0	0	0	1	0	68	281					G	153641878	T	G	153641878	1	3	79	0	1	0	0	0	0	0	0	0	15648	1821	63	4		4	TAZ	23	153641878	5'Flank	SNP	T	TCGA-IB-7651-01A-11D-2154-08	13956	153641878	1628682	21645	31962											
ATP6AP1	537	broad.mit.edu	37	chrX	153663798	153663798	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaagaagggtagtctcCtcgtggcccgcacgcagccc	13	14	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153663798C>A	ENST00000369762.2	+	9	1211	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	384					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)					GGGTAGTCTCCTCGTGGCCCG	0.622																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1150-1152)Ctc>Atc		ATPase, H+ transporting, lysosomal accessory protein 1							56	49	51					X																	153663798		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663798C>A	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.1150C>A	X.37:g.153663798C>A	ENSP00000358777:p.Leu384Ile						p.L384I	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			9	1211	+	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)		384					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1150C>A	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195889	0.78902	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	4.81	0.61882	.	0.059264	0.64402	D	0.000001	T	0.79393	0.4438	M	0.82823	2.61	0.42872	D	0.994145	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81165	-0.1057	9	0.52906	T	0.07	-16.6749	12.5541	0.56244	0.1672:0.8328:0.0:0.0	.	344;384	B3KR70;Q15904	.;VAS1_HUMAN	I	384;208	.	ENSP00000358777:L384I	L	+	1	0	ATP6AP1	153316992	1.000000	0.71417	0.880000	0.34516	0.390000	0.30446	5.372000	0.66156	1.118000	0.41863	0.596000	0.82720	CTC		0.622	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		61	204	1	0	9.77497e-20	1	1.09193e-19	61	204					A	153663798	C	A	153663798	3	1	79	1	0	0	0	0	1	0	0	0	1166	681	24	3	1184	3	ATP6AP1	23	153663798	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	21920	153663798	1606762	21646	31963											
PLXNA3	55558	broad.mit.edu	37	chrX	153691782	153691782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtatgagacagtccccGtggtggatggcagccccatc	12	13	0	1	rs143738443		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153691782G>A	ENST00000369682.3	+	5	1541	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	456	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GACAGTCCCCGTGGTGGATGG	0.637																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1366-1368)Gtg>Atg		plexin A3			MET/VAL	0,3835		0,0,1632,571	119	103	108		1366	4.7	0.9	X	dbSNP_134	108	1,6727		0,1,2427,1872	no	missense	PLXNA3	NM_017514.3	21	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging	456/1872	153691782	1,10562	2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153691782G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1366G>A	X.37:g.153691782G>A	ENSP00000358696:p.Val456Met						p.V456M	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			5	1541	+	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)		456			Sema.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1366G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.825001	0.71143	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.05258	3.47	4.66	4.66	0.58398	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.056966	0.64402	D	0.000002	T	0.27629	0.0679	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.63877	0.919	T	0.11941	-1.0567	10	0.72032	D	0.01	.	15.4863	0.75571	0.0:0.0:1.0:0.0	.	456	P51805	PLXA3_HUMAN	M	456	ENSP00000358696:V456M	ENSP00000358696:V456M	V	+	1	0	PLXNA3	153344976	1.000000	0.71417	0.870000	0.34147	0.307000	0.27823	9.191000	0.94940	2.164000	0.68074	0.525000	0.51046	GTG		0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	540	0	0	0	1	0	8	540					A	153691782	G	A	153691782	3	1	79	1	0	0	0	0	1	0	0	0	12163	1145	40	1	1380	1	PLXNA3	23	153691782	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	27984	153691782	1578778	21647	31964											
PLXNA3	55558	broad.mit.edu	37	chrX	153692584	153692584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cggcggagaacgaggcggtcCtgctgccctccggtgaactg	16	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153692584C>A	ENST00000369682.3	+	8	1931	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	586					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)					CGAGGCGGTCCTGCTGCCCTC	0.687																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1756-1758)Ctg>Atg		plexin A3							27	25	26					X																	153692584		2195	4295	6490	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692584C>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1756C>A	X.37:g.153692584C>A	ENSP00000358696:p.Leu586Met						p.L586M	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			8	1931	+	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)		586					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1756C>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302047	0.23736	.	.	ENSG00000130827	ENST00000369682	T	0.00995	5.46	5.51	5.51	0.81932	.	0.581307	0.18180	N	0.149177	T	0.01940	0.0061	L	0.53249	1.67	0.31420	N	0.674375	B	0.33212	0.402	B	0.40199	0.322	T	0.23547	-1.0185	10	0.34782	T	0.22	.	12.8614	0.57915	0.0:0.8401:0.1599:0.0	.	586	P51805	PLXA3_HUMAN	M	586	ENSP00000358696:L586M	ENSP00000358696:L586M	L	+	1	2	PLXNA3	153345778	0.000000	0.05858	0.998000	0.56505	0.157000	0.22087	0.001000	0.13038	2.295000	0.77249	0.597000	0.82753	CTG		0.687	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		28	96	1	0	1.42536e-11	1	1.52187e-11	28	96					A	153692584	C	A	153692584	3	1	79	1	0	0	0	0	1	0	0	0	12163	680	24	3	1782	3	PLXNA3	23	153692584	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	802	153692584	1577976	21648	31965											
PLXNA3	55558	broad.mit.edu	37	chrX	153694277	153694277	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	actgcccatcctgctccacaGatccaccctctcgtggggcc	8	19	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153694277G>A	ENST00000369682.3	+	14	2707		c.e14-1			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3						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)					CTGCTCCACAGATCCACCCTC	0.677																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.e14-1		plexin A3							47	46	46					X																	153694277		2202	4300	6502	SO:0001630	splice_region_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694277G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2533-1G>A	X.37:g.153694277G>A								NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			14	2707	+	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)							Q5HY36	Splice_Site	SNP	ENST00000369682.3	37		CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771244	0.31320	.	.	ENSG00000130827	ENST00000369682	.	.	.	5.17	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8804	0.52571	0.0888:0.0:0.9112:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNA3	153347471	1.000000	0.71417	0.978000	0.43139	0.377000	0.30045	6.242000	0.72376	0.956000	0.37904	0.600000	0.82982	.		0.677	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Intron	62	226	0	0	0	1	0	62	226					A	153694277	G	A	153694277	5	1	79	1	0	0	0	0	0	0	1	0	12163	956	33	2	2582	2	PLXNA3	23	153694277	Splice_Site	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1693	153694277	1576283	21649	31966											
PLXNA3	55558	broad.mit.edu	37	chrX	153695925	153695925	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcagccggcagctcccGcctcaactacactgtgctga	11	17	1	1	rs375560348		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153695925G>A	ENST00000369682.3	+	20	3654	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1160	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)					GGCAGCTCCCGCCTCAACTAC	0.657																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3478-3480)cGc>cAc		plexin A3		G	HIS/ARG	0,3806		0,0,0,1625,556	20	17	18		3479	5.4	1	X		18	1,6707		0,0,1,2426,1855	no	missense	PLXNA3	NM_017514.3	29	0,0,1,4051,2411	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging	1160/1872	153695925	1,10513	2181	4282	6463	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695925G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3479G>A	X.37:g.153695925G>A	ENSP00000358696:p.Arg1160His						p.R1160H	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			20	3654	+	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)		1160			IPT/TIG 4.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3479G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925410	0.73213	0.0	1.49E-4	ENSG00000130827	ENST00000369682	T	0.76968	-1.06	5.37	5.37	0.77165	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.80616	2.505	0.53005	D	0.999965	D	0.89917	1.0	D	0.70016	0.967	D	0.88123	0.2833	10	0.87932	D	0	.	10.7533	0.46221	0.0914:0.0:0.9086:0.0	.	1160	P51805	PLXA3_HUMAN	H	1160	ENSP00000358696:R1160H	ENSP00000358696:R1160H	R	+	2	0	PLXNA3	153349119	0.992000	0.36948	1.000000	0.80357	0.735000	0.41995	4.693000	0.61753	2.385000	0.81259	0.529000	0.55759	CGC		0.657	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		12	47	0	0	0	1	0	12	47					A	153695925	G	A	153695925	3	1	79	1	0	0	0	0	1	0	0	0	12163	1087	38	1	3553	1	PLXNA3	23	153695925	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1648	153695925	1574635	21650	31967											
PLXNA3	55558	broad.mit.edu	37	chrX	153697552	153697552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcccaaagctgaggacatgGacctgggtgaggtccccacc	13	13	0	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153697552G>A	ENST00000369682.3	+	26	4763	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1530					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)					TGAGGACATGGACCTGGGTGA	0.602																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4588-4590)Gac>Aac		plexin A3							73	59	64					X																	153697552		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697552G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4588G>A	X.37:g.153697552G>A	ENSP00000358696:p.Asp1530Asn					PLXNA3_ENST00000493546.1_3'UTR	p.D1530N	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			26	4763	+	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)		1530					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4588G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722944	0.89298	.	.	ENSG00000130827	ENST00000369682	T	0.13901	2.55	5.35	4.48	0.54585	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.111765	0.64402	D	0.000016	T	0.44973	0.1319	M	0.91717	3.235	0.80722	D	1	D	0.64830	0.994	D	0.70935	0.971	T	0.56715	-0.7933	10	0.87932	D	0	.	13.9752	0.64268	0.0:0.1493:0.8507:0.0	.	1530	P51805	PLXA3_HUMAN	N	1530	ENSP00000358696:D1530N	ENSP00000358696:D1530N	D	+	1	0	PLXNA3	153350746	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.857000	0.99534	1.005000	0.39183	0.597000	0.82753	GAC		0.602	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		70	267	0	0	0	1	0	70	267					A	153697552	G	A	153697552	3	1	79	1	0	0	0	0	1	0	0	0	12163	1174	41	2	4686	2	PLXNA3	23	153697552	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1627	153697552	1573008	21651	31968											
PLXNA3	55558	broad.mit.edu	37	chrX	153698803	153698803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcacactgcagaagttcGtggatgacctctttgagaca	12	9	1	3			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698803G>A	ENST00000369682.3	+	30	5180	c.5005G>A	c.(5005-5007)Gtg>Atg	p.V1669M	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1669					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)					GCAGAAGTTCGTGGATGACCT	0.607																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(5005-5007)Gtg>Atg		plexin A3							76	68	71					X																	153698803		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698803G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.5005G>A	X.37:g.153698803G>A	ENSP00000358696:p.Val1669Met					PLXNA3_ENST00000493546.1_3'UTR	p.V1669M	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			30	5180	+	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)		1669					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.5005G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780325	0.90195	.	.	ENSG00000130827	ENST00000369682	T	0.18174	2.23	5.02	5.02	0.67125	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.58289	-0.7662	10	0.87932	D	0	.	16.1856	0.81948	0.0:0.0:1.0:0.0	.	1669	P51805	PLXA3_HUMAN	M	1669	ENSP00000358696:V1669M	ENSP00000358696:V1669M	V	+	1	0	PLXNA3	153351997	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	9.860000	0.99555	2.072000	0.62099	0.529000	0.55759	GTG		0.607	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		52	413	0	0	0	1	0	52	413					A	153698803	G	A	153698803	3	1	79	1	0	0	0	0	1	0	0	0	12163	1145	40	1	5119	1	PLXNA3	23	153698803	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	1251	153698803	1571757	21652	31969											
PLXNA3	55558	broad.mit.edu	37	chrX	153698908	153698908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggatgagcaggcggaccagCgccagatcagcgaccccgat	14	13	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698908C>T	ENST00000369682.3	+	30	5285	c.5110C>T	c.(5110-5112)Cgc>Tgc	p.R1704C	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1704					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)					GGCGGACCAGCGCCAGATCAG	0.632																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(5110-5112)Cgc>Tgc		plexin A3							90	80	83					X																	153698908		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698908C>T	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.5110C>T	X.37:g.153698908C>T	ENSP00000358696:p.Arg1704Cys					PLXNA3_ENST00000493546.1_3'UTR	p.R1704C	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			30	5285	+	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)		1704					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.5110C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911170	0.72983	.	.	ENSG00000130827	ENST00000369682	T	0.13089	2.62	5.21	5.21	0.72293	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129791	0.50627	D	0.000109	T	0.25975	0.0633	L	0.48642	1.525	0.54753	D	0.999988	D	0.65815	0.995	P	0.62382	0.901	T	0.00824	-1.1551	10	0.87932	D	0	.	10.4064	0.44260	0.3212:0.6788:0.0:0.0	.	1704	P51805	PLXA3_HUMAN	C	1704	ENSP00000358696:R1704C	ENSP00000358696:R1704C	R	+	1	0	PLXNA3	153352102	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	2.293000	0.43558	2.156000	0.67533	0.529000	0.55759	CGC		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		118	518	0	0	0	1	0	118	518					T	153698908	C	T	153698908	3	4	79	1	0	0	0	0	1	0	0	0	12163	768	27	1	5224	1	PLXNA3	23	153698908	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	105	153698908	1571652	21653	31970											
SLC10A3	8273	broad.mit.edu	37	chrX	153716401	153716401	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagaagccagtggcagcCaccgtagagaggaaagtcat	14	9	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716401C>A	ENST00000393587.4	-	3	1142	c.879G>T	c.(877-879)gtG>gtT	p.V293V	UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.V264V|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Silent_p.V348V|SLC10A3_ENST00000263512.4_Silent_p.V293V	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	293					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGTGGCAGCCACCGTAGAGA	0.627																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(877-879)gtG>gtT		solute carrier family 10, member 3							59	59	59					X																	153716401		2202	4299	6501	SO:0001819	synonymous_variant	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716401C>A	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.879G>T	X.37:g.153716401C>A						SLC10A3_ENST00000393587.4_Silent_p.V293V|SLC10A3_ENST00000369649.4_Silent_p.V264V|SLC10A3_ENST00000393586.1_Silent_p.V348V	p.V293V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	1377	-	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)		293					Q5HY79|Q9BSL2	Silent	SNP	ENST00000393587.4	37	c.879G>T	CCDS14755.1																																																																																				0.627	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		121	369	1	0	9.67539e-52	1	1.20159e-51	121	369					A	153716401	C	A	153716401	2	1	79	1	0	0	0	0	0	0	0	1	14425	581	21	3		3	SLC10A3	23	153716401	Silent	SNP	C	TCGA-IB-7651-01A-11D-2154-08	17493	153716401	1554159	21654	31971											
SLC10A3	8273	broad.mit.edu	37	chrX	153716810	153716810	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccgctcctcaatcagtgtgGgcggggcctcatgggcgtcc	14	14	3	0			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716810G>T	ENST00000393587.4	-	3	733	c.470C>A	c.(469-471)cCc>cAc	p.P157H	UBL4A_ENST00000369660.4_5'Flank|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|UBL4A_ENST00000369653.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H|SLC10A3_ENST00000263512.4_Missense_Mutation_p.P157H	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	157					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATCAGTGTGGGCGGGGCCTC	0.647																																						ENST00000263512.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(469-471)cCc>cAc		solute carrier family 10, member 3							66	66	66					X																	153716810		2203	4300	6503	SO:0001583	missense	8273				organic anion transport	integral to membrane	bile acid:sodium symporter activity	g.chrX:153716810G>T	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.470C>A	X.37:g.153716810G>T	ENSP00000377212:p.Pro157His					SLC10A3_ENST00000393587.4_Missense_Mutation_p.P157H|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P128H|SLC10A3_ENST00000393586.1_Missense_Mutation_p.P212H	p.P157H	NM_019848.3	NP_062822.1	P09131	P3_HUMAN			2	968	-	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)		157					Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	c.470C>A	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.272864	0.23221	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.10005	3.08;2.92;2.97;2.97	4.83	4.83	0.62350	.	0.075236	0.53938	U	0.000052	T	0.32526	0.0832	M	0.73598	2.24	0.46901	D	0.999249	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03840	-1.0999	10	0.59425	D	0.04	-11.0926	13.8157	0.63290	0.0:0.0:1.0:0.0	.	128;157	Q9BSL2;P09131	.;P3_HUMAN	H	128;212;157;157;157	ENSP00000358663:P128H;ENSP00000377211:P212H;ENSP00000263512:P157H;ENSP00000377212:P157H	ENSP00000263512:P157H	P	-	2	0	SLC10A3	153370004	1.000000	0.71417	0.151000	0.22473	0.029000	0.11900	3.852000	0.55934	2.229000	0.72834	0.600000	0.82982	CCC		0.647	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848		157	487	1	0	8.02008e-65	1	1.01376e-64	157	487					T	153716810	G	T	153716810	3	4	79	1	0	0	0	0	1	0	0	0	14425	1232	43	3	967	3	SLC10A3	23	153716810	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	409	153716810	1553750	21655	31972											
GAB3	139716	broad.mit.edu	37	chrX	153927748	153927748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacatagctgtcttcgataCtggctgaagctgtggggtac	13	9	1	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153927748C>T	ENST00000369575.3	-	6	1194	c.1163G>A	c.(1162-1164)aGt>aAt	p.S388N	GAB3_ENST00000424127.2_Missense_Mutation_p.S389N|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	388					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)					GTCTTCGATACTGGCTGAAGC	0.532																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1162-1164)aGt>aAt		GRB2-associated binding protein 3							69	63	65					X																	153927748		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153927748C>T	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.1163G>A	X.37:g.153927748C>T	ENSP00000358588:p.Ser388Asn					GAB3_ENST00000424127.2_Missense_Mutation_p.S389N|GAB3_ENST00000496390.1_5'UTR	p.S388N	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			6	1194	-	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)		388					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.1163G>A	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	6.811	0.518775	0.13005	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.26957	1.7;1.7;1.7	5.85	4.09	0.47781	.	0.454231	0.28284	N	0.015909	T	0.18964	0.0455	L	0.47716	1.5	0.09310	N	1	P;B;P	0.42871	0.792;0.056;0.682	B;B;B	0.40329	0.326;0.047;0.326	T	0.13202	-1.0518	10	0.02654	T	1	-1.7537	9.8274	0.40921	0.0:0.8291:0.0:0.1709	.	389;389;388	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	N	388;389;389	ENSP00000358588:S388N;ENSP00000358581:S389N;ENSP00000399588:S389N	ENSP00000358581:S389N	S	-	2	0	GAB3	153580942	0.057000	0.20700	0.003000	0.11579	0.152000	0.21847	1.057000	0.30492	0.623000	0.30267	0.529000	0.55759	AGT		0.532	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		74	305	0	0	0	1	0	74	305					T	153927748	C	T	153927748	3	4	79	1	0	0	0	0	1	0	0	0	6177	565	20	2	617	2	GAB3	23	153927748	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	210938	153927748	1342812	21656	31973											
F8	2157	broad.mit.edu	37	chrX	154156894	154156894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcccataatcccagagcCtctccactgcagcaataaaa	4	15	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154156894C>T	ENST00000360256.4	-	14	5371	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1724	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCCAGAGCCTCTCCACTGC	0.408																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(5170-5172)aGg>aAg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						73	59	64					X																	154156894		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154156894C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5171G>A	X.37:g.154156894C>T	ENSP00000353393:p.Arg1724Lys						p.R1724K	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	5371	-	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)		1724			F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5171G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	3.065	-0.192479	0.06259	.	.	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	5.15	1.49	0.22878	Cupredoxin (2);	0.683124	0.14244	N	0.331866	D	0.90906	0.7142	N	0.03608	-0.345	0.19300	N	0.999977	B	0.10296	0.003	B	0.08055	0.003	D	0.84554	0.0646	10	0.02654	T	1	-1.5746	2.4056	0.04412	0.2282:0.379:0.0:0.3927	.	1724	P00451	FA8_HUMAN	K	1724	ENSP00000353393:R1724K	ENSP00000353393:R1724K	R	-	2	0	F8	153810088	0.466000	0.25823	0.990000	0.47175	0.961000	0.63080	-0.051000	0.11885	0.330000	0.23485	0.538000	0.68166	AGG		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			46	143	0	0	0	1	0	46	143					T	154156894	C	T	154156894	3	4	79	1	0	0	0	0	1	0	0	0	5368	681	24	2	1964	2	F8	23	154156894	Missense_Mutation	SNP	C	TCGA-IB-7651-01A-11D-2154-08	229146	154156894	1113666	21657	31974											
F8	2157	broad.mit.edu	37	chrX	154175987	154175987	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actaacctgggttttccatcGacatgaagacagtttctcct	7	11	1	2			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154175987G>A	ENST00000360256.4	-	13	2299	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				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.S700L(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)	GTTTTCCATCGACATGAAGAC	0.408																																						ENST00000360256.4																			2	Substitution - Missense(2)	p.S700L(2)	large_intestine(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	GRCh37	CM010857	F8	M		c.(2098-2100)tCg>tTg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						147	139	142					X																	154175987		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154175987G>A	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.2099C>T	X.37:g.154175987G>A	ENSP00000353393:p.Ser700Leu						p.S700L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			13	2299	-	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)		700			F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2099C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	8.872	0.949534	0.18356	.	.	ENSG00000185010	ENST00000360256	D	0.98207	-4.79	4.55	3.68	0.42216	Cupredoxin (2);	0.708495	0.13962	N	0.350791	D	0.93959	0.8066	N	0.21097	0.63	0.24012	N	0.996173	D	0.55172	0.97	B	0.39840	0.311	D	0.88960	0.3393	10	0.51188	T	0.08	-11.974	6.0793	0.19933	0.1092:0.1868:0.704:0.0	.	700	P00451	FA8_HUMAN	L	700	ENSP00000353393:S700L	ENSP00000353393:S700L	S	-	2	0	F8	153829181	0.890000	0.30428	0.997000	0.53966	0.299000	0.27559	1.647000	0.37260	0.829000	0.34733	-0.192000	0.12808	TCG		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			54	489	0	0	0	1	0	54	489					A	154175987	G	A	154175987	3	1	79	1	0	0	0	0	1	0	0	0	5368	1059	37	1	5040	1	F8	23	154175987	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	19093	154175987	1094573	21658	31975											
CLIC2	1193	broad.mit.edu	37	chrX	154507346	154507346	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagtcacgatatttcttgGcagcaacctagaattttgca	7	9	2	1			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154507346G>A	ENST00000369449.2	-	6	808	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	197	C-terminal.|GST C-terminal.				chloride transmembrane transport (GO:1902476)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|oxidation-reduction process (GO:0055114)|positive regulation of binding (GO:0051099)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|signal transduction (GO:0007165)|transport (GO:0006810)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|glutathione peroxidase activity (GO:0004602)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATATTTCTTGGCAGCAACCTA	0.398																																					Melanoma(108;581 1592 2289 21669 28822)	ENST00000369449.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18						c.(589-591)gCc>gTc		chloride intracellular channel 2							76	68	70					X																	154507346		2203	4300	6503	SO:0001583	missense	1193				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	g.chrX:154507346G>A	AJ000217	CCDS14767.1	Xq28	2012-09-26			ENSG00000155962	ENSG00000155962		"Ion channels / Chloride channels : Intracellular"	2063	protein-coding gene	gene with protein product		300138				9339381	Standard	NM_001289		Approved	XAP121	uc004fnf.3	O15247	OTTHUMG00000022660	ENST00000369449.2:c.590C>T	X.37:g.154507346G>A	ENSP00000358460:p.Ala197Val					CLIC2_ENST00000465553.1_5'UTR	p.A197V	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN			6	808	-	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)		197			C-terminal.|GST C-terminal.		A8K9S0|O15174|Q5JT80|Q8TCE3	Missense_Mutation	SNP	ENST00000369449.2	37	c.590C>T	CCDS14767.1	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178450	0.78564	.	.	ENSG00000155962	ENST00000369449	D	0.93906	-3.31	5.19	4.32	0.51571	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.055211	0.64402	D	0.000001	D	0.94238	0.8150	M	0.75085	2.285	0.45733	D	0.998634	D	0.65815	0.995	P	0.56514	0.8	D	0.92781	0.6240	10	0.48119	T	0.1	-9.8228	6.8635	0.24079	0.0978:0.1731:0.7291:0.0	.	197	O15247	CLIC2_HUMAN	V	197	ENSP00000358460:A197V	ENSP00000358460:A197V	A	-	2	0	CLIC2	154160540	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	4.799000	0.62517	1.115000	0.41800	-0.268000	0.10319	GCC		0.398	CLIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058793.1	NM_001289		92	296	0	0	0	1	0	92	296					A	154507346	G	A	154507346	3	1	79	1	0	0	0	0	1	0	0	0	3535	1203	42	2	157	2	CLIC2	23	154507346	Missense_Mutation	SNP	G	TCGA-IB-7651-01A-11D-2154-08	331359	154507346	763214	21659	31976											
VPS13D	55187	broad.mit.edu	37	chr1	12316444	12316444	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atcactacgtcctggagcctGtgtttgcatctgctcttttg	9	11	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:12316444G>C	ENST00000358136.3	+	8	854	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	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)		CCTGGAGCCTGTGTTTGCATC	0.542																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(724-726)Gtg>Ctg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							172	159	163					1																	12316444		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12316444G>C	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.724G>C	1.37:g.12316444G>C	ENSP00000350854:p.Val242Leu					VPS13D_ENST00000356315.4_Missense_Mutation_p.V242L	p.V242L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	8	854	+	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)	242						Missense_Mutation	SNP	ENST00000358136.3	37	c.724G>C	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748117	0.69533	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.41400	1.0;1.0	5.94	5.03	0.67393	.	0.125158	0.53938	D	0.000060	T	0.37598	0.1009	L	0.50333	1.59	0.80722	D	1	B;B	0.28350	0.208;0.132	B;B	0.30572	0.117;0.055	T	0.26744	-1.0094	10	0.54805	T	0.06	.	9.8912	0.41292	0.1488:0.0:0.8512:0.0	.	242;242	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	L	242	ENSP00000348666:V242L;ENSP00000350854:V242L	ENSP00000348666:V242L	V	+	1	0	VPS13D	12239031	1.000000	0.71417	0.972000	0.41901	0.972000	0.66771	5.297000	0.65704	2.820000	0.97059	0.650000	0.86243	GTG		0.542	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		294	669	0	0	0	1	0	294	669					C	12316444	G	C	12316444	3	2	80	1	0	0	0	0	1	0	0	0	17246	1377	48	5	750	5	VPS13D	1	12316444	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		12316444	236934177	1	31977											
CSMD2	114784	broad.mit.edu	37	chr1	34068023	34068023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggctgaggttgaggCggacgccatggccaatgggc	18	10	0	2	rs373586316		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:34068023C>T	ENST00000373380.1	-	22	3495	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000373381.4_Missense_Mutation_p.R2219H|CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2221	Sushi 6. {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)				GAGGTTGAGGCGGACGCCATG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18234	0.0		0.0	False		,,,				2504	0.001					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6655-6657)cGc>cAc		CUB and Sushi multiple domains 2		C	HIS/ARG	0,4406		0,0,2203	69	70	70		6662	-3.3	0.7	1		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSMD2	NM_052896.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2221/3488	34068023	1,13005	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34068023C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3275G>A	1.37:g.34068023C>T	ENSP00000362478:p.Arg1092His					CSMD2_ENST00000373377.1_Missense_Mutation_p.R318H|CSMD2_ENST00000373380.1_Missense_Mutation_p.R1092H|CSMD2_ENST00000373388.2_Missense_Mutation_p.R318H|CSMD2_ENST00000489419.1_5'UTR	p.R2219H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			43	6832	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2221			CUB 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.6656G>A		.	.	.	.	.	.	.	.	.	.	C	11.50	1.657455	0.29425	0.0	1.16E-4	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.28	-3.3	0.05003	CUB (5);	0.777035	0.12272	N	0.483686	T	0.07773	0.0195	N	0.16478	0.41	0.26223	N	0.979134	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.39375	-0.9617	10	0.18710	T	0.47	.	7.3106	0.26473	0.1403:0.1536:0.0:0.7061	.	1092;2221;2219	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	2219;1092;318;318	ENSP00000362479:R2219H;ENSP00000362478:R1092H;ENSP00000362475:R318H;ENSP00000362486:R318H	ENSP00000241312:R2221H	R	-	2	0	CSMD2	33840610	0.246000	0.23909	0.678000	0.29963	0.858000	0.48976	0.231000	0.17872	-0.459000	0.07013	-0.143000	0.13931	CGC		0.577	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		39	177	0	0	0	1	0	39	177					T	34068023	C	T	34068023	3	4	80	1	0	0	0	0	1	0	0	0	3956	768	27	1	3905	1	CSMD2	1	34068023	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	21751579	34068023	215182598	2	31978											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	340						7	340	---	---	---	---	-	44447009	AGC	-	44447007	7	5	80	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-IB-7652-01A-11D-2154-08	10378984	44447007	204803614	3	31979											
ZFYVE9	9372	broad.mit.edu	37	chr1	52740258	52740258	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tccactggtgtaaaaggaggTaagtggactacatatttaaa	10	5	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:52740258T>C	ENST00000371591.1	+	7	2877		c.e7+2		ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000287727.3_Splice_Site	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9						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						TAAAAGGAGGTAAGTGGACTA	0.398																																						ENST00000287727.3																			0				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						c.e8+2		zinc finger, FYVE domain containing 9							122	109	113					1																	52740258		2203	4300	6503	SO:0001630	splice_region_variant	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52740258T>C	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.2746+2T>C	1.37:g.52740258T>C						ZFYVE9_ENST00000357206.2_Splice_Site|ZFYVE9_ENST00000371591.1_Splice_Site		NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN			8	2918	+								Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Splice_Site	SNP	ENST00000371591.1	37		CCDS563.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598319	0.46318	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	.	.	.	5.27	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3915	0.55360	0.0:0.0:0.1407:0.8593	.	.	.	.	.	-1	.	.	.	+	.	.	ZFYVE9	52512846	1.000000	0.71417	0.998000	0.56505	0.451000	0.32288	7.744000	0.85034	0.832000	0.34804	-0.313000	0.08912	.		0.398	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	Intron	83	400	0	0	0	1	0	83	400					C	52740258	T	C	52740258	5	2	80	1	0	0	0	0	0	0	1	0	17724	1652	57	4	2781	4	ZFYVE9	1	52740258	Splice_Site	SNP	T	TCGA-IB-7652-01A-11D-2154-08	8293251	52740258	196510363	4	31980											
KCNA2	3737	broad.mit.edu	37	chr1	111147355	111147355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cataggtgtcctgtgggtgcCcagggagggcagcagcctcg	17	11	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:111147355C>A	ENST00000485317.1	-	3	723	c.50G>T	c.(49-51)gGg>gTg	p.G17V	KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000525120.1_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	17					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	CTGTGGGTGCCCAGGGAGGGC	0.597																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(49-51)gGg>gTg		potassium voltage-gated channel, shaker-related subfamily, member 2							97	101	100					1																	111147355		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147355C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.50G>T	1.37:g.111147355C>A	ENSP00000433109:p.Gly17Val					KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000440270.1_Missense_Mutation_p.G17V|KCNA2_ENST00000369770.3_Missense_Mutation_p.G17V|KCNA2_ENST00000316361.4_Missense_Mutation_p.G17V	p.G17V			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	723	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	17					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.50G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638576	0.67130	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;D;D;D	0.96334	-1.29;-3.98;-3.98;-3.98	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	L	0.56769	1.78	0.80722	D	1	B;P	0.45011	0.262;0.848	B;P	0.52823	0.101;0.71	D	0.94141	0.7397	10	0.17369	T	0.5	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	17;17	Q86XG6;P16389	.;KCNA2_HUMAN	V	17	ENSP00000358785:G17V;ENSP00000433109:G17V;ENSP00000415257:G17V;ENSP00000314520:G17V	ENSP00000314520:G17V	G	-	2	0	KCNA2	110948878	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.713000	0.92767	0.655000	0.94253	GGG		0.597	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		149	764	1	0	2.2932e-79	1	2.71384e-79	149	764					A	111147355	C	A	111147355	3	1	80	1	0	0	0	0	1	0	0	0	8033	623	22	3	1453	3	KCNA2	1	111147355	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	58407097	111147355	138103266	5	31981											
FLG	2312	broad.mit.edu	37	chr1	152284997	152284997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagaggaaagaccctgaacGtcgagacctttcccctgacc	10	13	0	5			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:152284997G>A	ENST00000368799.1	-	3	2400	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	789	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)			GACCCTGAACGTCGAGACCTT	0.567									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2365-2367)Cgt>Tgt		filaggrin							305	293	297					1																	152284997		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284997G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2365C>T	1.37:g.152284997G>A	ENSP00000357789:p.Arg789Cys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R789C	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2400	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		789			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2365C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	5.373	0.254012	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.52	-0.503	0.12000	.	.	.	.	.	T	0.00906	0.0030	M	0.77820	2.39	0.09310	N	1	D	0.64830	0.994	B	0.40038	0.317	T	0.43245	-0.9403	9	0.62326	D	0.03	.	2.9569	0.05880	0.1583:0.0:0.4366:0.4051	.	789	P20930	FILA_HUMAN	C	789	ENSP00000357789:R789C	ENSP00000357789:R789C	R	-	1	0	FLG	150551621	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.133000	0.10451	-0.248000	0.09583	0.479000	0.44913	CGT		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		40	1782	0	0	0	1	0	40	1782					A	152284997	G	A	152284997	3	1	80	1	0	0	0	0	1	0	0	0	5947	1145	40	1	9824	1	FLG	1	152284997	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	41137642	152284997	96965624	6	31982											
C1orf129	80133	broad.mit.edu	37	chr1	170967515	170967515	+	Missense_Mutation	SNP	G	G	T													tatctctccctctgaatgttGgttcttaccaagacttaaga							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967515G>T	ENST00000367758.3	+	15	1795	c.1696G>T	c.(1696-1698)Ggt>Tgt	p.G566C	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	566																	TCTGAATGTTGGTTCTTACCA	0.403																																						ENST00000367758.3																			0											c.(1696-1698)Ggt>Tgt		maestro heat-like repeat family member 9							132	113	119					1																	170967515		1836	4093	5929	SO:0001583	missense	80133							g.chr1:170967515G>T	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.1696G>T	1.37:g.170967515G>T	ENSP00000356732:p.Gly566Cys					MROH9_ENST00000367759.4_Intron	p.G566C	NM_025063.2	NP_079339.2					15	1795	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1696G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455111	0.26161	.	.	ENSG00000117501	ENST00000367758	T	0.19394	2.15	3.5	0.187	0.15109	.	0.828757	0.10249	N	0.697367	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.21452	0.056	B	0.14578	0.011	T	0.42699	-0.9436	10	0.87932	D	0	0.8303	4.3614	0.11205	0.13:0.0:0.318:0.552	.	566	Q5TGP6	CA129_HUMAN	C	566	ENSP00000356732:G566C	ENSP00000356732:G566C	G	+	1	0	C1orf129	169234139	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.564000	0.05936	0.015000	0.14971	0.446000	0.29264	GGT		0.403	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		45	281	1	0	3.43241e-23	1	3.87843e-23	45	281					T	170967515	G	T	170967515	3	4	80	1	0	0	0	0	1	0	0	0	2003	1348	47	3	1750	3	C1orf129	1	170967515	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	18682518	170967515	78283106	7	31983	210	2									
C1orf129	80133	broad.mit.edu	37	chr1	170967516	170967516	+	Missense_Mutation	SNP	G	G	T													atctctccctctgaatgttgGttcttaccaagacttaagat							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:170967516G>T	ENST00000367758.3	+	15	1796	c.1697G>T	c.(1696-1698)gGt>gTt	p.G566V	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	566																	CTGAATGTTGGTTCTTACCAA	0.408																																						ENST00000367758.3																			0											c.(1696-1698)gGt>gTt		maestro heat-like repeat family member 9							130	112	117					1																	170967516		1836	4093	5929	SO:0001583	missense	80133							g.chr1:170967516G>T	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.1697G>T	1.37:g.170967516G>T	ENSP00000356732:p.Gly566Val					MROH9_ENST00000367759.4_Intron	p.G566V	NM_025063.2	NP_079339.2					15	1796	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1697G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	4.954	0.177286	0.09443	.	.	ENSG00000117501	ENST00000367758	T	0.18657	2.2	3.5	-5.73	0.02398	.	0.828757	0.10249	N	0.697367	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	B	0.33042	0.157	T	0.35549	-0.9784	10	0.87932	D	0	0.8303	0.4664	0.00525	0.2894:0.1345:0.3038:0.2723	.	566	Q5TGP6	CA129_HUMAN	V	566	ENSP00000356732:G566V	ENSP00000356732:G566V	G	+	2	0	C1orf129	169234140	0.050000	0.20438	0.000000	0.03702	0.015000	0.08874	-0.045000	0.12003	-1.222000	0.02587	0.446000	0.29264	GGT		0.408	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		43	282	1	0	6.2361e-21	1	6.96771e-21	43	282					T	170967516	G	T	170967516	3	4	80	1	0	0	0	0	1	0	0	0	2003	1261	44	3	1751	3	C1orf129	1	170967516	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	1	170967516	78283105	8	31984	210	2									
FMO1	2326	broad.mit.edu	37	chr1	171254564	171254564	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcatgacccagtgggacCgaacattcaaggtcatcaaa	8	12	4	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:171254564C>T	ENST00000354841.4	+	8	1611	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	494					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCAGTGGGACCGAACATTCAA	0.478																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(1480-1482)Cga>Tga		flavin containing monooxygenase 1							101	96	98					1																	171254564		2203	4300	6503	SO:0001587	stop_gained	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171254564C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1480C>T	1.37:g.171254564C>T	ENSP00000346901:p.Arg494*					FMO1_ENST00000367750.3_Nonsense_Mutation_p.R494*|FMO1_ENST00000402921.2_Nonsense_Mutation_p.R431*|FMO1_ENST00000469112.1_3'UTR	p.R494*			Q01740	FMO1_HUMAN			8	1611	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		494					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	37	c.1480C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.316156	0.97467	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1246	9.8702	0.41168	0.139:0.7877:0.0:0.0732	.	.	.	.	X	494;431;494	.	ENSP00000346901:R494X	R	+	1	2	FMO1	169521188	0.653000	0.27358	0.971000	0.41717	0.929000	0.56500	1.341000	0.33907	1.372000	0.46190	-0.259000	0.10710	CGA		0.478	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		78	338	0	0	0	1	0	78	338					T	171254564	C	T	171254564	4	4	80	1	0	0	0	0	0	1	0	0	5979	644	23	1	1510	1	FMO1	1	171254564	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	287048	171254564	77996057	9	31985											
ASPM	259266	broad.mit.edu	37	chr1	197071382	197071382	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aaagtagcagccctgtgcatCtctcgcatccttttccttat	6	13	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:197071382C>T	ENST00000367409.4	-	18	7255	c.6999G>A	c.(6997-6999)gaG>gaA	p.E2333E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2333	IQ 22. {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						CCCTGTGCATCTCTCGCATCC	0.408																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(6997-6999)gaG>gaA		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							147	137	141					1																	197071382		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071382C>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6999G>A	1.37:g.197071382C>T						ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	p.E2333E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			18	7255	-			2333			IQ 22.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6999G>A	CCDS1389.1																																																																																				0.408	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		116	561	0	0	0	1	0	116	561					T	197071382	C	T	197071382	2	4	80	1	0	0	0	0	0	0	0	1	1057	912	32	2		2	ASPM	1	197071382	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	25816818	197071382	52179239	10	31986											
PCNXL2	80003	broad.mit.edu	37	chr1	233394271	233394271	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tttcacttccattgccttcgGgacagggaacacctcctccc	7	16	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr1:233394271G>C	ENST00000258229.9	-	5	1571	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	446						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)				ATTGCCTTCGGGACAGGGAAC	0.572																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1336-1338)cCc>cGc		pecanex-like 2 (Drosophila)							77	82	80					1																	233394271		1967	4157	6124	SO:0001583	missense	80003					integral to membrane		g.chr1:233394271G>C	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.1337C>G	1.37:g.233394271G>C	ENSP00000258229:p.Pro446Arg					PCNXL2_ENST00000430153.1_5'UTR	p.P446R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	1571	-		all_cancers(173;0.0347)|Prostate(94;0.137)	446					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1337C>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439400	0.25900	.	.	ENSG00000135749	ENST00000258229	T	0.08458	3.09	4.82	4.82	0.62117	.	.	.	.	.	T	0.06462	0.0166	N	0.19112	0.55	0.23293	N	0.997962	B	0.28713	0.22	B	0.24006	0.05	T	0.33292	-0.9874	9	0.23891	T	0.37	.	13.897	0.63778	0.0:0.0:0.8472:0.1528	.	446	A6NKB5	PCX2_HUMAN	R	446	ENSP00000258229:P446R	ENSP00000258229:P446R	P	-	2	0	PCNXL2	231460894	0.205000	0.23458	0.018000	0.16275	0.005000	0.04900	2.254000	0.43214	2.484000	0.83849	0.655000	0.94253	CCC		0.572	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		106	376	0	0	0	1	0	106	376					C	233394271	G	C	233394271	3	2	80	1	0	0	0	0	1	0	0	0	11634	1232	43	5	5196	5	PCNXL2	1	233394271	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	36322889	233394271	15856350	11	31987											
LRP1B	53353	broad.mit.edu	37	chr2	141641448	141641448	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgctattagtgtagtTcttagggagccatctagttt	10	8	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:141641448T>A	ENST00000389484.3	-	25	5078	c.4107A>T	c.(4105-4107)agA>agT	p.R1369S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1369					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)		TTAGTGTAGTTCTTAGGGAGC	0.458										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(4105-4107)agA>agT		low density lipoprotein receptor-related protein 1B							172	167	169					2																	141641448		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141641448T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4107A>T	2.37:g.141641448T>A	ENSP00000374135:p.Arg1369Ser	TSP Lung(27;0.18)					p.R1369S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	25	5078	-		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)	1369					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.4107A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782993	0.49891	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97598	-4.45;-4.45	5.64	1.83	0.25207	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.92691	3.335	0.46725	D	0.999171	P;D	0.89917	0.771;1.0	P;D	0.87578	0.531;0.998	D	0.96886	0.9649	10	0.66056	D	0.02	.	6.582	0.22600	0.0:0.249:0.119:0.632	.	552;1369	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1369;1307;514	ENSP00000374135:R1369S;ENSP00000413239:R514S	ENSP00000374135:R1369S	R	-	3	2	LRP1B	141357918	0.999000	0.42202	0.982000	0.44146	0.896000	0.52359	0.411000	0.21115	0.125000	0.18397	0.533000	0.62120	AGA		0.458	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		113	546	0	0	0	1	0	113	546					A	141641448	T	A	141641448	3	1	80	1	0	0	0	0	1	0	0	0	8993	1780	62	5	9960	5	LRP1B	2	141641448	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08		141641448	101557925	12	31988											
SCN1A	6323	broad.mit.edu	37	chr2	166848439	166848439	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagttctccaggatgaccgcGatgtacatgttcaccacaac	8	12	2	1	rs121918763		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:166848439G>A	ENST00000303395.4	-	26	5345	c.5346C>T	c.(5344-5346)atC>atT	p.I1782I	SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Silent_p.I1782I|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1782			I -> M (in EIEE6; dbSNP:rs121918763). {ECO:0000269|PubMed:20522430}.		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)	GGATGACCGCGATGTACATGT	0.443																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(5344-5346)atC>atT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						124	123	123					2																	166848439		2203	4297	6500	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848439G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5346C>T	2.37:g.166848439G>A						AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1782I|SCN1A_ENST00000375405.3_Silent_p.I1771I|SCN1A_ENST00000409050.1_Silent_p.I1754I	p.I1782I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			26	5363	-			1782		I -> M (in SMEI; dbSNP:rs121918763).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.5346C>T	CCDS54413.1																																																																																				0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		190	914	0	0	0	1	0	190	914					A	166848439	G	A	166848439	2	1	80	1	0	0	0	0	0	0	0	1	13964	1048	37	1		1	SCN1A	2	166848439	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	25206991	166848439	76350934	13	31989											
HECW2	57520	broad.mit.edu	37	chr2	197208385	197208385	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acacttagttacttacgttcCatgaaatagggcccaggctc	8	11	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:197208385C>G	ENST00000260983.3	-	3	578	c.396G>C	c.(394-396)atG>atC	p.M132I	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	132					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						ACTTACGTTCCATGAAATAGG	0.358																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(394-396)atG>atC		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							166	183	177					2																	197208385		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197208385C>G	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.396G>C	2.37:g.197208385C>G	ENSP00000260983:p.Met132Ile					HECW2_ENST00000409111.1_5'UTR	p.M132I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			3	578	-			132					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.396G>C	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953035	0.53293	.	.	ENSG00000138411	ENST00000260983;ENST00000452031	T	0.31247	1.5	6.06	6.06	0.98353	.	0.046101	0.85682	D	0.000000	T	0.31358	0.0794	L	0.54323	1.7	0.50171	D	0.99985	B	0.12013	0.005	B	0.15484	0.013	T	0.02533	-1.1145	10	0.37606	T	0.19	.	14.2555	0.66048	0.1491:0.8509:0.0:0.0	.	132	Q9P2P5	HECW2_HUMAN	I	132	ENSP00000260983:M132I	ENSP00000260983:M132I	M	-	3	0	HECW2	196916630	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.483000	0.60264	2.882000	0.98803	0.655000	0.94253	ATG		0.358	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		79	1027	0	0	0	1	0	79	1027					G	197208385	C	G	197208385	3	3	80	1	0	0	0	0	1	0	0	0	7073	594	21	5	4430	5	HECW2	2	197208385	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	30359946	197208385	45990988	14	31990											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	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.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		8	581						8	581	---	---	---	---	-	202352352	T	-	202352352	7	5	80	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	5143967	202352352	40847021	15	31991											
SLC4A3	6508	broad.mit.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct					rs557843124	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		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.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del	p.RK307del			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.65	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		7	424						7	424	---	---	---	---	-	220496801	GAA	-	220496799	7	5	80	1	0	1	0	1	0	0	0	0	14705	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-IB-7652-01A-11D-2154-08	18144447	220496799	22702574	16	31992											
ASB1	51665	broad.mit.edu	37	chr2	239342283	239342283	+	Nonsense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggctccatgatgcagcttaCgtcggggacctccagaccct	11	14	0	2	rs140110697		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr2:239342283C>G	ENST00000264607.4	+	2	385	c.138C>G	c.(136-138)taC>taG	p.Y46*	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	46					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		ATGCAGCTTACGTCGGGGACC	0.597																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(136-138)taC>taG		ankyrin repeat and SOCS box containing 1							66	61	63					2																	239342283		2203	4300	6503	SO:0001587	stop_gained	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239342283C>G	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.138C>G	2.37:g.239342283C>G	ENSP00000264607:p.Tyr46*					ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Nonsense_Mutation_p.Y46*	p.Y46*	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	2	385	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	46					A6NL50|Q4ZG29|Q9ULS4	Nonsense_Mutation	SNP	ENST00000264607.4	37	c.138C>G	CCDS33416.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436599	0.96168	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	.	.	.	5.49	0.519	0.17035	.	0.253973	0.41823	D	0.000807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4737	0.38858	0.0:0.574:0.0:0.426	.	.	.	.	X	46	.	ENSP00000264607:Y46X	Y	+	3	2	ASB1	239007022	0.656000	0.27385	0.998000	0.56505	0.974000	0.67602	-0.326000	0.07965	0.037000	0.15575	-0.258000	0.10820	TAC		0.597	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		6	226	0	0	0	1	0	6	226					G	239342283	C	G	239342283	4	3	80	1	0	0	0	0	0	1	0	0	1014	547	19	5	144	5	ASB1	2	239342283	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	18845484	239342283	3857090	17	31993											
NKTR	4820	broad.mit.edu	37	chr3	42680269	42680271	+	In_Frame_Del	DEL	GAG	GAG	-													ctccactagaatttggtgaaGaggaggaggaggagattgat							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:42680269_42680271delGAG	ENST00000232978.8	+	13	3261_3263	c.3073_3075delGAG	c.(3073-3075)gagdel	p.E1029del	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1029					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)		ATTTGGTGAAGAGGAGGAGGAGG	0.355																																						ENST00000232978.8																			0				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						c.(3073-3075)del		natural killer-tumor recognition sequence																																				SO:0001651	inframe_deletion	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42680269_42680271delGAG		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.3073_3075delGAG	3.37:g.42680278_42680280delGAG	ENSP00000232978:p.Glu1029del					RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	p.E1029del	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	3261_3263	+			1029						In_Frame_Del	DEL	ENST00000232978.8	37	c.3073_3075delGAG	CCDS2702.1																																																																																				0.355	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	613						7	613	---	---	---	---	-	42680271	GAG	-	42680269	7	5	80	1	0	1	0	1	0	0	0	0	10490	943	33	0	3119	0	NKTR	3	42680269	In_Frame_Del	DEL	GAG	TCGA-IB-7652-01A-11D-2154-08		42680269	155342161	18	31994											
CACNA2D3	55799	broad.mit.edu	37	chr3	55021718	55021719	+	Frame_Shift_Del	DEL	CT	CT	-													tcttccccatagactggagaCttttttggtgagatcgaggg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:55021718_55021719delCT	ENST00000474759.1	+	31	2676_2677	c.2628_2629delCT	c.(2626-2631)gactttfs	p.F878fs	CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.F878fs|CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.F784fs|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	878						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)	AGACTGGAGACTTTTTTGGTGA	0.436																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(2626-2631)gattfs		calcium channel, voltage-dependent, alpha 2/delta subunit 3																																				SO:0001589	frameshift_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55021718_55021719delCT	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.2628_2629delCT	3.37:g.55021718_55021719delCT	ENSP00000419101:p.Phe878fs					CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.DF782fs|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.DF876fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.DF876fs	p.DF876fs	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	31	2676_2677	+			876					B2RPL6|Q9NY16|Q9NY18	Frame_Shift_Del	DEL	ENST00000474759.1	37	c.2628_2629delCT	CCDS54598.1																																																																																				0.436	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			26	156						26	156	---	---	---	---	-	55021719	CT	-	55021718	7	5	80	1	0	1	0	1	0	0	0	0	2557	564	20	0	2750	0	CACNA2D3	3	55021718	Frame_Shift_Del	DEL	CT	TCGA-IB-7652-01A-11D-2154-08	12341449	55021718	143000712	19	31995											
FLNB	2317	broad.mit.edu	37	chr3	58107201	58107201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgggagcccctacacagtgGaggcctcgctgccaccagat	12	16	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58107201G>A	ENST00000295956.4	+	20	3262	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000357272.4_Missense_Mutation_p.E1033K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1033					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)		CTACACAGTGGAGGCCTCGCT	0.567																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(3097-3099)Gag>Aag		filamin B, beta							100	106	104					3																	58107201		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58107201G>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3097G>A	3.37:g.58107201G>A	ENSP00000295956:p.Glu1033Lys					FLNB_ENST00000493452.1_Missense_Mutation_p.E864K|FLNB_ENST00000419752.2_Missense_Mutation_p.E864K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1033K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1033K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1033K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1033K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1033K	p.E1033K			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	20	3262	+			1033					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.3097G>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855482	0.91355	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.87	5.87	0.94306	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.136651	0.64402	D	0.000004	T	0.49660	0.1570	L	0.35723	1.085	0.80722	D	1	P;P;B;B;P;P	0.48640	0.913;0.893;0.415;0.121;0.774;0.774	P;P;B;B;B;B	0.52217	0.693;0.493;0.299;0.246;0.345;0.345	T	0.36480	-0.9746	10	0.46703	T	0.11	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1033;1033;864;864;1033;1033	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	K	1033;1033;1033;1033;1033;1033;864;864	ENSP00000295956:E1033K;ENSP00000420213:E1033K;ENSP00000351339:E1033K;ENSP00000415599:E1033K;ENSP00000232447:E1033K;ENSP00000349819:E1033K;ENSP00000418510:E864K;ENSP00000414532:E864K	ENSP00000295956:E1033K	E	+	1	0	FLNB	58082241	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	7.890000	0.87313	2.780000	0.95670	0.655000	0.94253	GAG		0.567	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		119	534	0	0	0	1	0	119	534					A	58107201	G	A	58107201	3	1	80	1	0	0	0	0	1	0	0	0	5959	1175	41	2	3175	2	FLNB	3	58107201	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	3085483	58107201	139915229	20	31996											
FLNB	2317	broad.mit.edu	37	chr3	58134060	58134060	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgagacgagccctgTctcctgaagaggctgcccaa	12	14	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:58134060T>A	ENST00000295956.4	+	35	6021	c.5856T>A	c.(5854-5856)tgT>tgA	p.C1952*	FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000357272.4_Nonsense_Mutation_p.C1952*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1952	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACGAGCCCTGTCTCCTGAAGA	0.602																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(5854-5856)tgT>tgA		filamin B, beta							41	36	38					3																	58134060		2203	4300	6503	SO:0001587	stop_gained	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58134060T>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.5856T>A	3.37:g.58134060T>A	ENSP00000295956:p.Cys1952*					FLNB_ENST00000493452.1_Nonsense_Mutation_p.C1759*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.C1772*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.C1952*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.C1941*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.C1983*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.C1928*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.C1952*	p.C1952*			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	35	6021	+			1952			Interaction with the cytoplasmic tail of GP1BA.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Nonsense_Mutation	SNP	ENST00000295956.4	37	c.5856T>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	T	46	12.749215	0.99693	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	.	.	.	6.17	-0.893	0.10567	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3262	0.55011	0.0:0.4478:0.0:0.5522	.	.	.	.	X	1952;1983;1928;1941;1952;1952;1759;1772	.	ENSP00000295956:C1952X	C	+	3	2	FLNB	58109100	0.944000	0.32072	0.994000	0.49952	0.995000	0.86356	0.021000	0.13489	-0.232000	0.09811	0.533000	0.62120	TGT		0.602	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		11	122	0	0	0	1	0	11	122					A	58134060	T	A	58134060	4	1	80	1	0	0	0	0	0	1	0	0	5959	1673	58	5	6091	5	FLNB	3	58134060	Nonsense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	26859	58134060	139888370	21	31997											
KIAA1524	57650	broad.mit.edu	37	chr3	108270112	108270112	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgaagtttcaccaaggactCtttctcttccaaacgacctt	5	13	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:108270112C>G	ENST00000295746.8	-	21	2678	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	868					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAAGGACTCTTTCTCTTCC	0.418																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2602-2604)Gag>Cag		KIAA1524							100	91	94					3																	108270112		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108270112C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2602G>C	3.37:g.108270112C>G	ENSP00000295746:p.Glu868Gln					KIAA1524_ENST00000491772.1_Missense_Mutation_p.E709Q	p.E868Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			21	2678	-			868					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2602G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013192	0.93346	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.55052	0.54;0.54	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.74910	-0.3503	10	0.66056	D	0.02	-12.9123	19.4773	0.94994	0.0:1.0:0.0:0.0	.	868	Q8TCG1	CIP2A_HUMAN	Q	709;868	ENSP00000419487:E709Q;ENSP00000295746:E868Q	ENSP00000295746:E868Q	E	-	1	0	KIAA1524	109752802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.308000	0.65768	2.593000	0.87608	0.655000	0.94253	GAG		0.418	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		45	143	0	0	0	1	0	45	143					G	108270112	C	G	108270112	3	3	80	1	0	0	0	0	1	0	0	0	8269	922	32	5	119	5	KIAA1524	3	108270112	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	50136052	108270112	89752318	22	31998											
DNAJC13	23317	broad.mit.edu	37	chr3	132209833	132209833	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattatgaacctgaaaaGttttctgagatttttctagg	8	4	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:132209833G>T	ENST00000260818.6	+	32	3809	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1187					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						AACCTGAAAAGTTTTCTGAGA	0.323																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3559-3561)aaG>aaT		DnaJ (Hsp40) homolog, subfamily C, member 13							40	46	44					3																	132209833		2200	4296	6496	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132209833G>T	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.3561G>T	3.37:g.132209833G>T	ENSP00000260818:p.Lys1187Asn						p.K1187N	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			32	3809	+			1187					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3561G>T	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367442	0.61513	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.13	3.06	0.35304	Armadillo-type fold (1);	0.072208	0.56097	D	0.000039	T	0.27832	0.0685	M	0.72576	2.205	0.50467	D	0.999872	P	0.52577	0.954	P	0.47981	0.563	T	0.03829	-1.1000	10	0.46703	T	0.11	.	8.6112	0.33804	0.2823:0.0:0.7177:0.0	.	1187	O75165	DJC13_HUMAN	N	1187	ENSP00000260818:K1187N	ENSP00000260818:K1187N	K	+	3	2	DNAJC13	133692523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.013000	0.29937	1.166000	0.42689	0.591000	0.81541	AAG		0.323	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		15	200	1	0	9.16793e-09	1	9.85799e-09	15	200					T	132209833	G	T	132209833	3	4	80	1	0	0	0	0	1	0	0	0	4648	1020	36	3	3683	3	DNAJC13	3	132209833	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	23939721	132209833	65812597	23	31999											
A4GNT	51146	broad.mit.edu	37	chr3	137849964	137849964	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atgccacgtctgtggctcagGagggcttccagcccctggtg	14	13	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:137849964G>C	ENST00000236709.3	-	2	336	c.135C>G	c.(133-135)ctC>ctG	p.L45L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	45					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						TGTGGCTCAGGAGGGCTTCCA	0.537																																						ENST00000236709.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						c.(133-135)ctC>ctG		alpha-1,4-N-acetylglucosaminyltransferase							81	83	82					3																	137849964		2203	4300	6503	SO:0001819	synonymous_variant	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849964G>C	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.135C>G	3.37:g.137849964G>C							p.L45L	NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN			2	336	-			45					Q0VDK1|Q0VDK2	Silent	SNP	ENST00000236709.3	37	c.135C>G	CCDS3097.1																																																																																				0.537	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		68	345	0	0	0	1	0	68	345					C	137849964	G	C	137849964	2	2	80	1	0	0	0	0	0	0	0	1	7	1161	41	5		5	A4GNT	3	137849964	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	5640131	137849964	60172466	24	32000											
ATR	545	broad.mit.edu	37	chr3	142242967	142243004	+	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-													tttgcatcttggcaacctttCaaaagcactgtcaccaactg					rs56026468	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENST00000350721.4	-	22	4104_4141	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	c.(3982-4020)gtagaacctattatctcacagttggtgacagtgcttttgfs	p.VEPIISQLVTVLL1328fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1328					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						GGCAACCTTTCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTACTGTTTCACT	0.382								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3982-4020)gfs	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related																																				SO:0001589	frameshift_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	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.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	3.37:g.142242967_142243004delCAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	ENSP00000343741:p.Val1328fs					ATR_ENST00000383101.3_Frame_Shift_Del_p.VEPIISQLVTVLL1264fs	p.VEPIISQLVTVLL1328fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			22	4104_4141	-			1328					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	ENST00000350721.4	37	c.3983_4020delTAGAACCTATTATCTCACAGTTGGTGACAGTGCTTTTG	CCDS3124.1																																																																																				0.382	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		12	453						12	453	---	---	---	---	-	142243004	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	-	142242967	7	5	80	1	0	1	0	1	0	0	0	0	1205	825	29	0	4018	0	ATR	3	142242967	Frame_Shift_Del	DEL	CAAAAGCACTGTCACCAACTGTGAGATAATAGGTTCTA	TCGA-IB-7652-01A-11D-2154-08	4393003	142242967	55779463	25	32001											
SR140	23350	broad.mit.edu	37	chr3	142741878	142741878	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taatgctcctatgttaccgcCacctaaaaacaaagaggatt	6	10	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr3:142741878C>T	ENST00000473835.2	+	12	1292	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L|U2SURP_ENST00000397933.2_Missense_Mutation_p.H7Y	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	401	Pro-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						ATGTTACCGCCACCTAAAAAC	0.403																																						ENST00000397933.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(19-21)Cac>Tac		U2 snRNP-associated SURP domain containing							32	30	30					3																	142741878		1843	4093	5936	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741878C>T	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.1202C>T	3.37:g.142741878C>T	ENSP00000418563:p.Pro401Leu					U2SURP_ENST00000493598.2_Missense_Mutation_p.P400L|U2SURP_ENST00000473835.2_Missense_Mutation_p.P401L	p.H7Y			O15042	SR140_HUMAN			12	1301	+			0					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.19C>T	CCDS46928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.44|11.44	1.639128|1.639128	0.29157|0.29157	.|.	.|.	ENSG00000163714|ENSG00000163714	ENST00000397933|ENST00000473835;ENST00000319822;ENST00000493598	.|T;T	.|0.14144	.|2.53;2.56	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.046853	.|0.85682	.|D	.|0.000000	T|T	0.14917|0.14917	0.0360|0.0360	L|L	0.48642|0.48642	1.525|1.525	0.37451|0.37451	D|D	0.914836|0.914836	B|B;B;B	0.15473|0.10296	0.013|0.003;0.002;0.001	B|B;B;B	0.17098|0.10450	0.017|0.002;0.005;0.002	T|T	0.03148|0.03148	-1.1067|-1.1067	8|10	0.87932|0.45353	D|T	0|0.12	-11.0642|-11.0642	13.5241|13.5241	0.61584|0.61584	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	7|401;400;401	O15042-3|B4DK81;O15042-2;O15042	.|.;.;SR140_HUMAN	Y|L	7|401;401;400	.|ENSP00000418563:P401L;ENSP00000422011:P400L	ENSP00000381027:H7Y|ENSP00000322376:P401L	H|P	+|+	1|2	0|0	U2SURP|U2SURP	144224568|144224568	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	5.600000|5.600000	0.67599|0.67599	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.403	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		7	58	0	0	0	1	0	7	58					T	142741878	C	T	142741878	3	4	80	1	0	0	0	0	1	0	0	0	15183	594	21	2	1248	2	SR140	3	142741878	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	498911	142741878	55280552	26	32002											
GRSF1	2926	broad.mit.edu	37	chr4	71691088	71691088	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacatcagcttctccagTggccttcccactggagctgt	10	14	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:71691088T>C	ENST00000254799.6	-	8	1435	c.1318A>G	c.(1318-1320)Act>Gct	p.T440A	GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	440	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)			GCTTCTCCAGTGGCCTTCCCA	0.488																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.(1318-1320)Act>Gct		G-rich RNA sequence binding factor 1							68	67	67					4																	71691088		1989	4182	6171	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691088T>C	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.1318A>G	4.37:g.71691088T>C	ENSP00000254799:p.Thr440Ala					GRSF1_ENST00000545193.1_Missense_Mutation_p.T322A|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.T278A|GRSF1_ENST00000439371.1_Missense_Mutation_p.T278A	p.T440A	NM_002092.3	NP_002083.3	Q12849	GRSF1_HUMAN	Lung(101;0.235)		8	1435	-		all_hematologic(202;0.21)	440			RRM 3.		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1318A>G	CCDS47069.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665232	0.88251	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	6.07	4.88	0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.044997	0.85682	D	0.000000	T	0.26159	0.0638	M	0.72576	2.205	0.53005	D	0.999964	D;P	0.60160	0.987;0.581	D;P	0.70016	0.967;0.702	T	0.00660	-1.1622	10	0.62326	D	0.03	-9.2706	12.0784	0.53657	0.0:0.0668:0.0:0.9332	.	353;440	B7Z5F9;Q12849	.;GRSF1_HUMAN	A	440;278;372;413;278;322	ENSP00000254799:T440A;ENSP00000389219:T278A;ENSP00000427354:T413A;ENSP00000425430:T278A;ENSP00000443380:T322A	ENSP00000254799:T440A	T	-	1	0	GRSF1	71909952	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.967000	0.70403	1.114000	0.41781	0.533000	0.62120	ACT		0.488	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092		23	108	0	0	0	1	0	23	108					C	71691088	T	C	71691088	3	2	80	1	0	0	0	0	1	0	0	0	6839	1696	59	4	132	4	GRSF1	4	71691088	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08		71691088	119463188	27	32003											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				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						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	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.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			10	333						10	333	---	---	---	---	-	81123252	CAG	-	81123250	7	5	80	1	0	1	0	1	0	0	0	0	12509	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-IB-7652-01A-11D-2154-08	9432162	81123250	110031026	28	32004											
PTPN13	5783	broad.mit.edu	37	chr4	87684337	87684337	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggatcatcaaacaccAaaacaggcatagtttaattt	6	8	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:87684337A>T	ENST00000411767.2	+	24	4074	c.4011A>T	c.(4009-4011)ccA>ccT	p.P1337P	PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000436978.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1337					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)		ATCAAACACCAAAACAGGCAT	0.363																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4009-4011)ccA>ccT		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							95	93	94					4																	87684337		1865	4115	5980	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87684337A>T		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.4011A>T	4.37:g.87684337A>T						PTPN13_ENST00000316707.6_Silent_p.P1146P|PTPN13_ENST00000411767.2_Silent_p.P1337P|PTPN13_ENST00000511467.1_Silent_p.P1337P|PTPN13_ENST00000427191.2_Silent_p.P1318P	p.P1337P	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	24	4491	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1337					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.4011A>T	CCDS47094.1																																																																																				0.363	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			94	462	0	0	0	1	0	94	462					T	87684337	A	T	87684337	2	4	80	1	0	0	0	0	0	0	0	1	12830	117	5	5		5	PTPN13	4	87684337	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	6561087	87684337	103469939	29	32005											
FAT4	79633	broad.mit.edu	37	chr4	126371342	126371342	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgaaccaaaacttttttatCacagtcactgcaaaggataa	5	8	2	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:126371342C>G	ENST00000394329.3	+	9	9184	c.9171C>G	c.(9169-9171)atC>atG	p.I3057M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3057	Cadherin 29. {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						ACTTTTTTATCACAGTCACTG	0.398																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(9169-9171)atC>atG		FAT atypical cadherin 4							81	81	81					4																	126371342		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371342C>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9171C>G	4.37:g.126371342C>G	ENSP00000377862:p.Ile3057Met					FAT4_ENST00000335110.5_Missense_Mutation_p.I1355M	p.I3057M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	9184	+			3057			Cadherin 29.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.9171C>G	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	2.000	-0.429562	0.04701	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.55760	0.5;1.95	5.53	3.77	0.43336	Cadherin (4);Cadherin-like (1);	0.250386	0.20094	U	0.099377	T	0.36082	0.0954	L	0.34521	1.04	0.31081	N	0.711959	B;B;B	0.20459	0.006;0.045;0.016	B;B;B	0.23716	0.005;0.048;0.019	T	0.41251	-0.9519	10	0.72032	D	0.01	.	1.0954	0.01672	0.1406:0.3872:0.2043:0.2679	.	1355;3057;3057	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3057;1355	ENSP00000377862:I3057M;ENSP00000335169:I1355M	ENSP00000335169:I1355M	I	+	3	3	FAT4	126590792	0.985000	0.35326	0.990000	0.47175	0.286000	0.27126	0.286000	0.18902	1.340000	0.45581	0.655000	0.94253	ATC		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	397	0	0	0	1	0	8	397					G	126371342	C	G	126371342	3	3	80	1	0	0	0	0	1	0	0	0	5717	816	29	5	9205	5	FAT4	4	126371342	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	38687005	126371342	64782934	30	32006											
PCDH10	57575	broad.mit.edu	37	chr4	134072871	134072871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	actctgagaacggctacttgTacgccctgcgctccttcgac	9	15	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr4:134072871T>G	ENST00000264360.5	+	1	2402	c.1576T>G	c.(1576-1578)Tac>Gac	p.Y526D	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	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)			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)		CGGCTACTTGTACGCCCTGCG	0.597																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1576-1578)Tac>Gac		protocadherin 10							64	69	67					4																	134072871		2200	4293	6493	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072871T>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1576T>G	4.37:g.134072871T>G	ENSP00000264360:p.Tyr526Asp						p.Y526D	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2402	+			526			Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1576T>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427385	0.62733	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001442	T	0.68026	0.2956	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.73020	-0.4114	10	0.87932	D	0	.	12.9618	0.58462	0.0:0.0:0.0:1.0	.	526;526	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	526	ENSP00000264360:Y526D	ENSP00000264360:Y526D	Y	+	1	0	PCDH10	134292321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.836000	0.86788	1.889000	0.54706	0.533000	0.62120	TAC		0.597	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		79	407	0	0	0	1	0	79	407					G	134072871	T	G	134072871	3	3	80	1	0	0	0	0	1	0	0	0	11549	1638	57	4	1578	4	PCDH10	4	134072871	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	7701529	134072871	57081405	31	32007											
TERT	7015	broad.mit.edu	37	chr5	1253880	1253880	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtctgagggcagtgccGggttggctgcggcctccagg	18	10	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:1253880G>T	ENST00000310581.5	-	16	3419	c.3362C>A	c.(3361-3363)cCg>cAg	p.P1121Q	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1121	CTE.				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)	GGGCAGTGCCGGGTTGGCTGC	0.662									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(3361-3363)cCg>cAg		telomerase reverse transcriptase							21	29	27					5																	1253880		2170	4259	6429	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1253880G>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3362C>A	5.37:g.1253880G>T	ENSP00000309572:p.Pro1121Gln					TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.P1058Q	p.P1121Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		16	3419	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1121			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.3362C>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	g	16.53	3.147750	0.57151	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.97870	-4.58;-4.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.98381	0.9462	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98501	1.0614	10	0.66056	D	0.02	-17.5136	11.4366	0.50072	0.0:0.0:1.0:0.0	.	1058;1121	O14746-3;O14746	.;TERT_HUMAN	Q	1121;1058	ENSP00000309572:P1121Q;ENSP00000334346:P1058Q	ENSP00000309572:P1121Q	P	-	2	0	TERT	1306880	0.987000	0.35691	0.320000	0.25306	0.012000	0.07955	2.740000	0.47418	2.134000	0.65973	0.561000	0.74099	CCG		0.662	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			17	69	1	0	2.37509e-13	1	2.62441e-13	17	69					T	1253880	G	T	1253880	3	4	80	1	0	0	0	0	1	0	0	0	15816	1116	39	3	40	3	TERT	5	1253880	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		1253880	179661380	32	32008											
PDZD2	23037	broad.mit.edu	37	chr5	32089602	32089631	+	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-													gacagaggttgcccaaccacCcctaaatctcctaagtgtag							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENST00000438447.1	+	20	6436_6465	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	c.(6046-6078)acccctaaatctcctaagtgtagagcagagggc>acc	p.PKSPKCRAEG2017del	PDZD2_ENST00000282493.3_In_Frame_Del_p.PKSPKCRAEG2017del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2017					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.C2022Y(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						GCCCAACCACCCCTAAATCTCCTAAGTGTAGAGCAGAGGGCAGGGCGCCC	0.635																																						ENST00000438447.1																			1	Substitution - Missense(1)	p.C2022Y(1)	ovary(1)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6046-6078)acc>ac		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	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.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	5.37:g.32089602_32089631delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	ENSP00000402033:p.Pro2017_Gly2026del					PDZD2_ENST00000282493.3_In_Frame_Del_p.TPKSPKCRAEG2016del	p.TPKSPKCRAEG2016del			O15018	PDZD2_HUMAN			20	6436_6465	+			2016					Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6048_6077delCCCTAAATCTCCTAAGTGTAGAGCAGAGGG	CCDS34137.1																																																																																				0.635	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			37	1176						37	1176	---	---	---	---	-	32089631	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	-	32089602	7	5	80	1	0	1	0	1	0	0	0	0	11743	610	22	0	6122	0	PDZD2	5	32089602	In_Frame_Del	DEL	CCCTAAATCTCCTAAGTGTAGAGCAGAGGG	TCGA-IB-7652-01A-11D-2154-08	30835722	32089602	148825658	33	32009											
RASGRF2	5924	broad.mit.edu	37	chr5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-													cctgacaacttccagcagtcCcaccaccaccacccagagtc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)cccacc>ccc	p.T770del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	770					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)		TCCAGCAGTCCCACCACCACCAC	0.562																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2296-2301)ccc>c		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001651	inframe_deletion	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409566_80409568delCCA	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.2297_2299delCCA	5.37:g.80409575_80409577delCCA	ENSP00000265080:p.Thr770del					CTD-2193P3.2_ENST00000508993.1_RNA	p.PT766del	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2364_2366	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	766					B9EG89|Q9UK56	In_Frame_Del	DEL	ENST00000265080.4	37	c.2297_2299delCCA	CCDS4052.1																																																																																				0.562	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	359						7	359	---	---	---	---	-	80409568	CCA	-	80409566	7	5	80	1	0	1	0	1	0	0	0	0	13123	623	22	0	2355	0	RASGRF2	5	80409566	In_Frame_Del	DEL	CCA	TCGA-IB-7652-01A-11D-2154-08	48319964	80409566	100505694	34	32010											
SLCO6A1	133482	broad.mit.edu	37	chr5	101748803	101748803	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaattgaagatgagcatctaCatttttcattgcaaggagcc	8	7	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:101748803C>T	ENST00000506729.1	-	9	1688	c.1517G>A	c.(1516-1518)tGt>tAt	p.C506Y	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	506	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.C506S(1)		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)		TGAGCATCTACATTTTTCATT	0.333																																						ENST00000506729.1																			1	Substitution - Missense(1)	p.C506S(1)	lung(1)	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						c.(1516-1518)tGt>tAt		solute carrier organic anion transporter family, member 6A1							45	46	46					5																	101748803		2203	4293	6496	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101748803C>T	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.1517G>A	5.37:g.101748803C>T	ENSP00000421339:p.Cys506Tyr					SLCO6A1_ENST00000379810.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.C506Y|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.C253Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.C444Y	p.C506Y			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	9	1688	-		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)	506			Kazal-like.		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1517G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077737	0.55753	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.25	5.25	0.73442	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.86264	0.5891	H	0.97440	4.005	0.50313	D	0.999866	P;D;D	0.89917	0.933;1.0;0.957	P;D;P	0.87578	0.479;0.998;0.688	D	0.90071	0.4163	10	0.56958	D	0.05	.	15.8626	0.79038	0.0:1.0:0.0:0.0	.	444;253;506	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	Y	506;506;444;253;253	ENSP00000421339:C506Y;ENSP00000369135:C506Y;ENSP00000373671:C444Y;ENSP00000421990:C253Y;ENSP00000369138:C253Y	ENSP00000369135:C506Y	C	-	2	0	SLCO6A1	101776702	0.999000	0.42202	0.564000	0.28396	0.046000	0.14306	4.586000	0.60984	2.720000	0.93068	0.655000	0.94253	TGT		0.333	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		32	159	0	0	0	1	0	32	159					T	101748803	C	T	101748803	3	4	80	1	0	0	0	0	1	0	0	0	14782	478	17	2	662	2	SLCO6A1	5	101748803	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	21339237	101748803	79166457	35	32011											
FSTL4	23105	broad.mit.edu	37	chr5	132535363	132535363	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagaagtagccgcccagGtgggtgtgtgccatggcctg	16	9	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:132535363G>A	ENST00000265342.7	-	16	2202	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	651						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)			AGCCGCCCAGGTGGGTGTGTG	0.622																																						ENST00000265342.7																			0				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						c.(1951-1953)caC>caT		follistatin-like 4							40	42	42					5																	132535363		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132535363G>A	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.1953C>T	5.37:g.132535363G>A						CTB-49A3.2_ENST00000509051.1_RNA	p.H651H	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2202	-		all_cancers(142;0.244)	651					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1953C>T	CCDS34238.1																																																																																				0.622	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		38	148	0	0	0	1	0	38	148					A	132535363	G	A	132535363	2	1	80	1	0	0	0	0	0	0	0	1	6106	1252	44	2		2	FSTL4	5	132535363	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	30786560	132535363	48379897	36	32012											
EGR1	1958	broad.mit.edu	37	chr5	137803753	137803753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccttttctcccaggAcaattgaaatttgctaaagg	7	10	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:137803753A>G	ENST00000239938.4	+	2	1887	c.1615A>G	c.(1615-1617)Aca>Gca	p.T539A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	539					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)			TTCTCCCAGGACAATTGAAAT	0.502																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1615-1617)Aca>Gca		early growth response 1							59	64	62					5																	137803753		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803753A>G	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.1615A>G	5.37:g.137803753A>G	ENSP00000239938:p.Thr539Ala						p.T539A	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1887	+			539						Missense_Mutation	SNP	ENST00000239938.4	37	c.1615A>G	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461456	0.43736	.	.	ENSG00000120738	ENST00000411801;ENST00000239938	T	0.10960	2.82	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	L	0.58101	1.795	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	T	0.01375	-1.1371	10	0.87932	D	0	-6.6955	12.7025	0.57041	1.0:0.0:0.0:0.0	.	539	P18146	EGR1_HUMAN	A	196;539	ENSP00000239938:T539A	ENSP00000239938:T539A	T	+	1	0	EGR1	137831652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.536000	0.90627	1.781000	0.52344	0.533000	0.62120	ACA		0.502	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		80	508	0	0	0	1	0	80	508					G	137803753	A	G	137803753	3	3	80	1	0	0	0	0	1	0	0	0	4987	275	10	4	1621	4	EGR1	5	137803753	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	5268390	137803753	43111507	37	32013											
PCDHA4	56144	broad.mit.edu	37	chr5	140188280	140188280	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgggtaggggagcgcgCgctgtcgagctacgtttcgg	20	10	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140188280C>T	ENST00000530339.1	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	503	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)			GGGGAGCGCGCGCTGTCGAGC	0.662																																						ENST00000530339.1																			0				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						c.(1507-1509)gCg>gTg									55	56	56					5																	140188280		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188280C>T	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.1508C>T	5.37:g.140188280C>T	ENSP00000435300:p.Ala503Val					PCDHA4_ENST00000356878.4_Missense_Mutation_p.A503V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A503V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A503V	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1508	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1508C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.350279	0.41599	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.65;0.59;0.62	4.18	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.515141	0.14366	U	0.324099	T	0.47097	0.1427	L	0.28344	0.845	0.19300	N	0.999977	P;P;D	0.54047	0.902;0.937;0.964	P;P;P	0.56398	0.559;0.797;0.596	T	0.32771	-0.9894	10	0.72032	D	0.01	.	3.1704	0.06550	0.1412:0.561:0.1371:0.1606	.	503;503;503	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	503	ENSP00000423470:A503V;ENSP00000349344:A503V;ENSP00000435300:A503V	ENSP00000349344:A503V	A	+	2	0	PCDHA4	140168464	0.000000	0.05858	0.562000	0.28370	0.709000	0.40893	-0.289000	0.08365	0.030000	0.15379	0.580000	0.79431	GCG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		60	361	0	0	0	1	0	60	361					T	140188280	C	T	140188280	3	4	80	1	0	0	0	0	1	0	0	0	11568	768	27	1	1510	1	PCDHA4	5	140188280	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2384527	140188280	40726980	38	32014											
PCDHA7	56141	broad.mit.edu	37	chr5	140215334	140215334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgacaacgccccggcgttcGcgcagcccgagtatacggtg	13	15	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:140215334G>A	ENST00000525929.1	+	1	1366	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	456	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)			CCCGGCGTTCGCGCAGCCCGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1366-1368)Gcg>Acg									56	60	59					5																	140215334		2203	4299	6502	SO:0001583	missense	0							g.chr5:140215334G>A	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.1366G>A	5.37:g.140215334G>A	ENSP00000436426:p.Ala456Thr					PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A456T|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	p.A456T	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1366	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1366G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624705	0.03636	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01359	4.98;4.98	4.0	-1.5	0.08691	Cadherin (3);Cadherin-like (1);	0.287183	0.17581	U	0.169114	T	0.00815	0.0027	N	0.05534	-0.03	0.09310	N	1	B;B	0.25105	0.118;0.091	B;B	0.30495	0.069;0.116	T	0.45775	-0.9238	10	0.44086	T	0.13	.	1.4843	0.02444	0.2051:0.1061:0.364:0.3248	.	456;456	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	456	ENSP00000436426:A456T;ENSP00000367365:A456T	ENSP00000367365:A456T	A	+	1	0	PCDHA7	140195518	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.809000	0.04510	-0.802000	0.04421	-2.305000	0.00258	GCG		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		84	483	0	0	0	1	0	84	483					A	140215334	G	A	140215334	3	1	80	1	0	0	0	0	1	0	0	0	11571	1087	38	1	1368	1	PCDHA7	5	140215334	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	27054	140215334	40699926	39	32015											
ARHGEF37	389337	broad.mit.edu	37	chr5	149001460	149001460	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacctaccaggaggaggcCgcccggcacacataccaggc	13	15	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:149001460C>T	ENST00000333677.6	+	9	1333	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	390	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGGAGGAGGCCGCCCGGCACA	0.577																																						ENST00000333677.6																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1168-1170)gcC>gcT		Rho guanine nucleotide exchange factor (GEF) 37							64	76	72					5																	149001460		2097	4214	6311	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149001460C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1170C>T	5.37:g.149001460C>T							p.A390A	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			9	1333	+			390			BAR.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.1170C>T	CCDS43385.1																																																																																				0.577	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		36	411	0	0	0	1	0	36	411					T	149001460	C	T	149001460	2	4	80	1	0	0	0	0	0	0	0	1	906	639	23	1		1	ARHGEF37	5	149001460	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8786126	149001460	31913800	40	32016											
FAT2	2196	broad.mit.edu	37	chr5	150923942	150923942	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttcagaaaatgaccccagaGctgtatccgtggctctgact	9	12	2	4			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:150923942G>T	ENST00000261800.5	-	9	6758	c.6746C>A	c.(6745-6747)gCt>gAt	p.A2249D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2249	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)			TGACCCCAGAGCTGTATCCGT	0.473																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6745-6747)gCt>gAt		FAT atypical cadherin 2							101	102	102					5																	150923942		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923942G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6746C>A	5.37:g.150923942G>T	ENSP00000261800:p.Ala2249Asp						p.A2249D	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6758	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2249			Cadherin 19.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.6746C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261414	0.59431	.	.	ENSG00000086570	ENST00000261800	T	0.60171	0.21	5.68	5.68	0.88126	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000003	T	0.65080	0.2657	L	0.42008	1.315	0.47245	D	0.999369	D	0.89917	1.0	D	0.77557	0.99	T	0.57365	-0.7824	10	0.12103	T	0.63	.	13.0521	0.58960	0.0733:0.0:0.9267:0.0	.	2249	Q9NYQ8	FAT2_HUMAN	D	2249	ENSP00000261800:A2249D	ENSP00000261800:A2249D	A	-	2	0	FAT2	150904135	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.043000	0.71004	2.683000	0.91414	0.561000	0.74099	GCT		0.473	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		104	552	1	0	2.68927e-46	1	3.09112e-46	104	552					T	150923942	G	T	150923942	3	4	80	1	0	0	0	0	1	0	0	0	5715	971	34	3	6363	3	FAT2	5	150923942	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	1922482	150923942	29991318	41	32017											
SPARC	6678	broad.mit.edu	37	chr5	151049237	151049237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcacatttgcaaggccCgatgtagtccaggtggagct	11	11	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:151049237C>T	ENST00000231061.4	-	6	752	c.439G>A	c.(439-441)Ggg>Agg	p.G147R	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	147	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TTGCAAGGCCCGATGTAGTCC	0.572																																						ENST00000231061.4																			0				central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(439-441)Ggg>Agg		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						106	93	98					5																	151049237		2203	4300	6503	SO:0001583	missense	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151049237C>T		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"cysteine-rich protein", "osteonectin"	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.439G>A	5.37:g.151049237C>T	ENSP00000231061:p.Gly147Arg						p.G147R	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	6	752	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	147			Kazal-like.		D3DQH9|Q6IBK4	Missense_Mutation	SNP	ENST00000231061.4	37	c.439G>A	CCDS4318.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075918	0.94000	.	.	ENSG00000113140	ENST00000231061;ENST00000538026;ENST00000521569	D;D;D	0.87650	-2.28;-2.28;-2.28	5.7	5.7	0.88788	Proteinase inhibitor I1, Kazal (2);	0.093699	0.85682	D	0.000000	D	0.95252	0.8460	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95663	0.8717	10	0.87932	D	0	-29.1188	19.8471	0.96713	0.0:1.0:0.0:0.0	.	147	P09486	SPRC_HUMAN	R	147;56;56	ENSP00000231061:G147R;ENSP00000440127:G56R;ENSP00000428119:G56R	ENSP00000231061:G147R	G	-	1	0	SPARC	151029430	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.311000	0.78958	2.688000	0.91661	0.655000	0.94253	GGG		0.572	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	NM_003118		26	245	0	0	0	1	0	26	245					T	151049237	C	T	151049237	3	4	80	1	0	0	0	0	1	0	0	0	15047	652	23	1	492	1	SPARC	5	151049237	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	125295	151049237	29866023	42	32018											
GALNT10	55568	broad.mit.edu	37	chr5	153755873	153755873	+	Frame_Shift_Del	DEL	T	T	-													tcttgaagactacatggcccTtttccccagtgtgaggattc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:153755873delT	ENST00000297107.6	+	5	742	c.605delT	c.(604-606)cttfs	p.L202fs	GALNT10_ENST00000425427.2_Frame_Shift_Del_p.L202fs|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Intron	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	202	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TACATGGCCCTTTTCCCCAGT	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(604-606)ctfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							137	134	135					5																	153755873		2203	4300	6503	SO:0001589	frameshift_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153755873delT	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.605delT	5.37:g.153755873delT	ENSP00000297107:p.Leu202fs					GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Frame_Shift_Del_p.L202fs|SAP30L-AS1_ENST00000519727.1_RNA	p.L202fs	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	742	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	202			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Frame_Shift_Del	DEL	ENST00000297107.6	37	c.605delT	CCDS4325.1																																																																																				0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		8	1010						8	1010	---	---	---	---	-	153755873	T	-	153755873	7	5	80	1	0	1	0	1	0	0	0	0	6236	1609	56	0	623	0	GALNT10	5	153755873	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	2706636	153755873	27159387	43	32019											
ITK	3702	broad.mit.edu	37	chr5	156608099	156608099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgttaaccaaagccagCctggcatactttgaagatcg	9	9	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:156608099C>T	ENST00000422843.3	+	1	263	c.111C>T	c.(109-111)agC>agT	p.S37S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	37	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCAAAGCCAGCCTGGCATACT	0.398			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(109-111)agC>agT		IL2-inducible T-cell kinase							128	123	125					5																	156608099		2203	4300	6503	SO:0001819	synonymous_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156608099C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.111C>T	5.37:g.156608099C>T							p.S37S	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	263	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	37			PH.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.111C>T	CCDS4336.1																																																																																				0.398	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			121	636	0	0	0	1	0	121	636					T	156608099	C	T	156608099	2	4	80	1	0	0	0	0	0	0	0	1	7939	738	26	2		2	ITK	5	156608099	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2852226	156608099	24307161	44	32020											
FLT4	2324	broad.mit.edu	37	chr5	180057054	180057054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacacgagcatgccccGccggtcatcccacaccacct	9	19	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr5:180057054G>A	ENST00000261937.6	-	5	643	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	189	Ig-like C2-type 2.				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)	AGCATGCCCCGCCGGTCATCC	0.647																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(565-567)Cgg>Tgg		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						72	67	69					5																	180057054		2200	4297	6497	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057054G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.565C>T	5.37:g.180057054G>A	ENSP00000261937:p.Arg189Trp					FLT4_ENST00000502649.1_Missense_Mutation_p.R189W|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R189W	p.R189W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	643	-	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)	189			Ig-like C2-type 2.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.565C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611614	0.66558	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.05258	3.47;3.47;3.47	5.16	3.02	0.34903	Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17152	0.0412	M	0.65975	2.015	0.38025	D	0.934989	D;D;D;D	0.89917	0.999;1.0;0.989;0.989	P;D;P;P	0.65010	0.855;0.931;0.677;0.582	T	0.02138	-1.1207	9	0.56958	D	0.05	.	7.5225	0.27637	0.0:0.1296:0.4182:0.4522	.	189;189;189;189	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	189	ENSP00000261937:R189W;ENSP00000377016:R189W;ENSP00000426057:R189W	ENSP00000261937:R189W	R	-	1	2	FLT4	179989660	0.824000	0.29247	1.000000	0.80357	0.821000	0.46438	0.873000	0.28052	1.262000	0.44165	0.561000	0.74099	CGG		0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			38	303	0	0	0	1	0	38	303					A	180057054	G	A	180057054	3	1	80	1	0	0	0	0	1	0	0	0	5969	1086	38	1	3638	1	FLT4	5	180057054	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	23448955	180057054	858206	45	32021											
E2F3	1871	broad.mit.edu	37	chr6	20490617	20490617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcgatctcttcgatgcttacGatttggaaaagctcccactg	9	11	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:20490617G>A	ENST00000346618.3	+	7	1420	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	452	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)			CGATGCTTACGATTTGGAAAA	0.468																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(1354-1356)Gat>Aat		E2F transcription factor 3							123	120	121					6																	20490617		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20490617G>A	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.1354G>A	6.37:g.20490617G>A	ENSP00000262904:p.Asp452Asn					E2F3_ENST00000535432.1_Missense_Mutation_p.D321N	p.D452N	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		7	1420	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		452			Transactivation (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.1354G>A	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.470974	0.84533	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.10288	2.89;3.01	5.79	5.79	0.91817	.	0.046857	0.85682	D	0.000000	T	0.21841	0.0526	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	P	0.57911	0.829	T	0.00379	-1.1777	10	0.66056	D	0.02	.	20.0407	0.97588	0.0:0.0:1.0:0.0	.	452	O00716	E2F3_HUMAN	N	115;452;321	ENSP00000262904:D452N;ENSP00000443418:D321N	ENSP00000262904:D452N	D	+	1	0	E2F3	20598596	1.000000	0.71417	0.941000	0.38009	0.685000	0.39939	9.476000	0.97823	2.746000	0.94184	0.561000	0.74099	GAT		0.468	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			155	731	0	0	0	1	0	155	731					A	20490617	G	A	20490617	3	1	80	1	0	0	0	0	1	0	0	0	4884	1058	37	1	1380	1	E2F3	6	20490617	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		20490617	150624450	46	32022											
OR12D2	26529	broad.mit.edu	37	chr6	29365221	29365221	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccacttcatggtagttattCttttctatgcacctgttctt	5	11	4	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:29365221C>A	ENST00000383555.2	+	1	806	c.745C>A	c.(745-747)Ctt>Att	p.L249I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443																																						ENST00000383555.2																			1	Substitution - Missense(1)	p.L249V(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(745-747)Ctt>Att		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							218	214	216					6																	29365221		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365221C>A		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.745C>A	6.37:g.29365221C>A	ENSP00000373047:p.Leu249Ile					OR5V1_ENST00000377154.1_Intron	p.L249I	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	806	+			249					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.745C>A	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306945	0.23821	.	.	ENSG00000168787	ENST00000383555	T	0.00256	8.42	3.94	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	T	0.00073	0.0002	L	0.37630	1.12	0.09310	N	1	B	0.33755	0.424	B	0.43916	0.436	T	0.07693	-1.0759	10	0.22109	T	0.4	.	6.48	0.22057	0.0:0.5558:0.275:0.1692	.	249	P58182	O12D2_HUMAN	I	249	ENSP00000373047:L249I	ENSP00000373047:L249I	L	+	1	0	OR12D2	29473200	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.686000	0.05161	0.314000	0.23086	0.205000	0.17691	CTT		0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			157	757	1	0	3.63811e-69	1	4.23036e-69	157	757					A	29365221	C	A	29365221	3	1	80	1	0	0	0	0	1	0	0	0	10973	913	32	3	747	3	OR12D2	6	29365221	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8874604	29365221	141749846	47	32023											
PRSS35	167681	broad.mit.edu	37	chr6	84233558	84233558	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccgacagcaggttcagcaTcttggacaaaaggttcttaa	9	10	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:84233558T>C	ENST00000369700.3	+	2	575	c.398T>C	c.(397-399)aTc>aCc	p.I133T	PRSS35_ENST00000536636.1_Missense_Mutation_p.I133T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	133	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGGTTCAGCATCTTGGACAAA	0.458																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(397-399)aTc>aCc		protease, serine, 35							98	93	95					6																	84233558		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233558T>C	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.398T>C	6.37:g.84233558T>C	ENSP00000358714:p.Ile133Thr					PRSS35_ENST00000369700.3_Missense_Mutation_p.I133T	p.I133T	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	743	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	133			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.398T>C	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078192	0.76528	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.50277	0.75;0.75	5.78	5.78	0.91487	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72944	-0.4138	10	0.87932	D	0	-14.2535	16.0993	0.81158	0.0:0.0:0.0:1.0	.	133	Q8N3Z0	PRS35_HUMAN	T	133	ENSP00000440870:I133T;ENSP00000358714:I133T	ENSP00000358714:I133T	I	+	2	0	PRSS35	84290277	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.698000	0.84413	2.207000	0.71202	0.459000	0.35465	ATC		0.458	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		105	421	0	0	0	1	0	105	421					C	84233558	T	C	84233558	3	2	80	1	0	0	0	0	1	0	0	0	12671	1435	50	4	400	4	PRSS35	6	84233558	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	54868337	84233558	86881509	48	32024											
FOXO3	2309	broad.mit.edu	37	chr6	108985160	108985160	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgactgatatggcaggcaCcatgaatctgaatgatgggc	13	8	1	5			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:108985160C>G	ENST00000343882.6	+	3	1428	c.1124C>G	c.(1123-1125)aCc>aGc	p.T375S	FOXO3_ENST00000406360.1_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	375					antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|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 transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATGGCAGGCACCATGAATCTG	0.582																																						ENST00000406360.1																			0				central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(1123-1125)aCc>aGc		forkhead box O3							44	42	43					6																	108985160		2203	4300	6503	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:108985160C>G	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.1124C>G	6.37:g.108985160C>G	ENSP00000339527:p.Thr375Ser					FOXO3_ENST00000343882.6_Missense_Mutation_p.T375S|FOXO3_ENST00000540898.1_Missense_Mutation_p.T155S	p.T375S	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	2	1467	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	375					B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.1124C>G	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.488937	0.26686	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.89681	-2.55;-2.55	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.43923	1.385	0.80722	D	1	P	0.40660	0.726	B	0.39617	0.305	T	0.80350	-0.1419	10	0.07325	T	0.83	-33.6779	19.4179	0.94709	0.0:1.0:0.0:0.0	.	375	O43524	FOXO3_HUMAN	S	375;375;155;155	ENSP00000339527:T375S;ENSP00000385824:T375S	ENSP00000339527:T375S	T	+	2	0	FOXO3	109091853	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.412000	0.80091	2.595000	0.87683	0.462000	0.41574	ACC		0.582	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			6	227	0	0	0	1	0	6	227					G	108985160	C	G	108985160	3	3	80	1	0	0	0	0	1	0	0	0	6051	507	18	5	1130	5	FOXO3	6	108985160	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	24751602	108985160	62129907	49	32025											
ZBTB24	9841	broad.mit.edu	37	chr6	109802729	109802729	+	Frame_Shift_Del	DEL	T	T	-													tcctcctgcaatgtattgacTttttttggtcttccccgttt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:109802729delT	ENST00000230122.3	-	2	668	c.501delA	c.(499-501)aaafs	p.K167fs		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	167					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)		ATGTATTGACTTTTTTTGGTC	0.418																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(499-501)aafs		zinc finger and BTB domain containing 24							159	168	165					6																	109802729		2203	4300	6503	SO:0001589	frameshift_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802729delT	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.501delA	6.37:g.109802729delT	ENSP00000230122:p.Lys167fs						p.K167fs	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	668	-		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)	167					Q17RC6|Q5TED5|Q8N455	Frame_Shift_Del	DEL	ENST00000230122.3	37	c.501delA	CCDS34509.1																																																																																				0.418	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	1461						7	1461	---	---	---	---	-	109802729	T	-	109802729	7	5	80	1	0	1	0	1	0	0	0	0	17584	1606	56	0	1666	0	ZBTB24	6	109802729	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	817569	109802729	61312338	50	32026											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	DEL	T	T	-													cataatcaagaactccagccTttttttccacaaaagaaatt					rs35128811		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125	136	132					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540delT	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.22045-2A>-	6.37:g.152539540delT		HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	ENST00000367255.5	37		CCDS5236.2																																																																																				0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	10	1318						10	1318	---	---	---	---	-	152539540	T	-	152539540	8	5	80	1	0	1	0	1	0	0	1	0	15497	1623	56	0	4527	0	SYNE1	6	152539540	Splice_Site	DEL	T	TCGA-IB-7652-01A-11D-2154-08	42736811	152539540	18575527	51	32027											
PARK2	5071	broad.mit.edu	37	chr6	162864492	162864492	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gggaaaccatggctggagttGaacctgacaaacactgacca	11	10	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr6:162864492G>T	ENST00000366898.1	-	2	123	c.21C>A	c.(19-21)ttC>ttA	p.F7L	PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.F7L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	7	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTGGAGTTGAACCTGACAA	0.498																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(19-21)ttC>ttA		parkin RBR E3 ubiquitin protein ligase							108	93	98					6																	162864492		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162864492G>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.21C>A	6.37:g.162864492G>T	ENSP00000355865:p.Phe7Leu					PARK2_ENST00000366892.1_Missense_Mutation_p.F7L|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Missense_Mutation_p.F7L|PARK2_ENST00000366897.1_Missense_Mutation_p.F7L	p.F7L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	2	123	-		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)	7			Ubiquitin-like.		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.21C>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682026	0.68042	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.058575	0.64402	D	0.000002	D	0.96371	0.8816	M	0.61703	1.905	0.33160	D	0.546906	D;P;D;D	0.76494	0.999;0.88;0.997;0.995	D;D;D;D	0.80764	0.994;0.946;0.958;0.958	D	0.95618	0.8678	10	0.44086	T	0.13	.	14.8348	0.70175	0.0:0.0:0.8561:0.1438	.	7;7;7;7	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	L	7;7;7;7;6	ENSP00000355865:F7L;ENSP00000355863:F7L;ENSP00000355862:F7L;ENSP00000355858:F7L	ENSP00000355858:F7L	F	-	3	2	PARK2	162784482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.700000	0.54786	2.805000	0.96524	0.655000	0.94253	TTC		0.498	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			19	294	1	0	1.00905e-13	1	1.12116e-13	19	294					T	162864492	G	T	162864492	3	4	80	1	0	0	0	0	1	0	0	0	11491	1281	45	3	1420	3	PARK2	6	162864492	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	10324952	162864492	8250575	52	32028											
GTF2I	2969	broad.mit.edu	37	chr7	74149837	74149840	+	Frame_Shift_Del	DEL	AAGA	AAGA	-													tatgccagaatcactaaattAagaaagatggtggatcagct							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:74149837_74149840delAAGA	ENST00000324896.4	+	17	1787_1790	c.1398_1401delAAGA	c.(1396-1401)ttaagafs	p.LR466fs	GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	466					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						TCACTAAATTAAGAAAGATGGTGG	0.275																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1396-1401)ttfs		general transcription factor IIi			,,,,	4,1578		1,2,788					,,,,	4.4	0.1			2	20,2954		3,14,1470	no	frameshift,frameshift,frameshift,frameshift,frameshift	GTF2I	NM_033001.2,NM_033000.2,NM_032999.2,NM_001518.3,NM_001163636.1	,,,,	4,16,2258	A1A1,A1R,RR		0.6725,0.2528,0.5268	,,,,	,,,,		24,4532				SO:0001589	frameshift_variant	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74149837_74149840delAAGA	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.1398_1401delAAGA	7.37:g.74149841_74149844delAAGA	ENSP00000322542:p.Leu466fs					GTF2I_ENST00000353920.4_Frame_Shift_Del_p.LR446fs|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.LR445fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.LR425fs	p.LR466fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			17	1787_1790	+			466					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Frame_Shift_Del	DEL	ENST00000324896.4	37	c.1398_1401delAAGA	CCDS5573.1																																																																																				0.275	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		7	32						7	32	---	---	---	---	-	74149840	AAGA	-	74149837	7	5	80	1	0	1	0	1	0	0	0	0	6897	359	13	0	1460	0	GTF2I	7	74149837	Frame_Shift_Del	DEL	AAGA	TCGA-IB-7652-01A-11D-2154-08		74149837	84988826	53	32029											
FLNC	2318	broad.mit.edu	37	chr7	128478769	128478769	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acgttccgctgcacatacagAcctgccatggaggggccaca	11	14	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:128478769A>T	ENST00000325888.8	+	8	1584	c.1323A>T	c.(1321-1323)agA>agT	p.R441S	FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	441					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						GCACATACAGACCTGCCATGG	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1321-1323)agA>agT		filamin C, gamma							87	97	94					7																	128478769		2127	4223	6350	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478769A>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1323A>T	7.37:g.128478769A>T	ENSP00000327145:p.Arg441Ser					FLNC_ENST00000346177.6_Missense_Mutation_p.R441S	p.R441S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			8	1584	+			441					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1323A>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522233	0.44866	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.63096	-0.02;-0.02	4.9	4.01	0.46588	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.483889	0.21640	N	0.071355	T	0.51924	0.1703	L	0.48642	1.525	0.43164	D	0.994953	B;B	0.21225	0.053;0.039	B;B	0.29440	0.038;0.102	T	0.52578	-0.8557	10	0.48119	T	0.1	.	4.0045	0.09595	0.1951:0.0:0.6163:0.1886	.	441;441	Q14315-2;Q14315	.;FLNC_HUMAN	S	441	ENSP00000327145:R441S;ENSP00000344002:R441S	ENSP00000327145:R441S	R	+	3	2	FLNC	128266005	0.385000	0.25172	0.997000	0.53966	0.975000	0.68041	-0.139000	0.10358	1.257000	0.44085	-0.366000	0.07423	AGA		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			104	604	0	0	0	1	0	104	604					T	128478769	A	T	128478769	3	4	80	1	0	0	0	0	1	0	0	0	5960	272	10	5	1353	5	FLNC	7	128478769	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	54328932	128478769	30659894	54	32030											
NOBOX	135935	broad.mit.edu	37	chr7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgggcaatctctcggCgtttatcactgtcaggatag	11	11	4	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					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)					AATCTCTCGGCGTTTATCACT	0.557																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(904-906)cGc>cAc		NOBOX oogenesis homeobox							87	80	83					7																	144097345		1892	4124	6016	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097345C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.905G>A	7.37:g.144097345C>T	ENSP00000419457:p.Arg302His					NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H	p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			5	904	-	Melanoma(164;0.14)		302					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.905G>A		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC		0.557	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		68	288	0	0	0	1	0	68	288					T	144097345	C	T	144097345	3	4	80	1	0	0	0	0	1	0	0	0	10554	768	27	1	1098	1	NOBOX	7	144097345	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	15618576	144097345	15041318	55	32031											
MLL3	58508	broad.mit.edu	37	chr7	151845337	151845338	+	Frame_Shift_Ins	INS	-	-	A													tgctgtggaagcagctgaccINSaattgtgtggaagatgaggc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr7:151845337_151845338insA	ENST00000262189.6	-	52	13892_13893	c.13674_13675insT	c.(13672-13677)attggtfs	p.G4559fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.G4616fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4559	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				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)										AGCAGCTGACCAATTGTGTGGA	0.535																																						ENST00000355193.2																			0											c.(13843-13848)atgtcafs		lysine (K)-specific methyltransferase 2C																																				SO:0001589	frameshift_variant	58508							g.chr7:151845337_151845338insA	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.13675dupT	7.37:g.151845339_151845339dupA	ENSP00000262189:p.Gly4559fs					KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.MS4558fs	p.MS4615fs							53	14063_14064	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	ENST00000262189.6	37	c.13845_13846insT	CCDS5931.1																																																																																				0.535	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			63	339						63	339	---	---	---	---	A	151845338	-	A	151845337	7	5	80	1	0	1	1	0	0	0	0	0	9663	594	21	0	1092	0	MLL3	7	151845337	Frame_Shift_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	7747992	151845337	7293326	56	32032											
DLGAP2	9228	broad.mit.edu	37	chr8	1497384	1497384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaaaagcaacgccaaCggcaccaaggcggacggccg	11	16	0	0	rs373372500		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:1497384C>T	ENST00000421627.2	+	2	659	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	254					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)		GCAACGCCAACGGCACCAAGG	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(523-525)aaC>aaT		discs, large (Drosophila) homolog-associated protein 2		C		6,4336		0,6,2165	14	21	19		525	-4.4	0	8		19	1,8561		0,1,4280	no	coding-synonymous	DLGAP2	NM_004745.3		0,7,6445	TT,TC,CC		0.0117,0.1382,0.0542		175/976	1497384	7,12897	2171	4281	6452	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497384C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.525C>T	8.37:g.1497384C>T							p.N175N	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	659	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	254					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.525C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	1.430	-0.570388	0.03910	0.001382	1.17E-4	ENSG00000198010	ENST00000520901	.	.	.	5.57	-4.39	0.03611	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63377	-0.6651	4	.	.	.	-13.2071	15.0453	0.71822	0.0:0.285:0.0:0.715	.	.	.	.	M	192	.	.	T	+	2	0	DLGAP2	1484791	0.085000	0.21516	0.019000	0.16419	0.196000	0.23810	-0.644000	0.05415	-0.909000	0.03852	-0.783000	0.03347	ACG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		18	53	0	0	0	1	0	18	53					T	1497384	C	T	1497384	2	4	80	1	0	0	0	0	0	0	0	1	4576	535	19	1		1	DLGAP2	8	1497384	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08		1497384	144866638	57	32033											
GTF2E2	2961	broad.mit.edu	37	chr8	30511012	30511014	+	In_Frame_Del	DEL	GAT	GAT	-													ttgttttcttcttctttgacGatgatgatgatgactcagaa					rs572162637|rs113662547		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:30511012_30511014delGAT	ENST00000355904.4	-	2	384_386	c.102_104delATC	c.(100-105)tcatcg>tcg	p.34_35SS>S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	34	Poly-Ser.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTTGACGATGATGATGATG	0.384																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(100-105)tcg>tc		general transcription factor IIE, polypeptide 2, beta 34kDa				132,4130		66,0,2065						-1.2	0.3			151	153,8101		76,1,4050	no	coding	GTF2E2	NM_002095.4		142,1,6115	A1A1,A1R,RR		1.8536,3.0971,2.2771				285,12231				SO:0001651	inframe_deletion	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511012_30511014delGAT	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"General transcription factors"	4651	protein-coding gene	gene with protein product		189964	"general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.102_104delATC	8.37:g.30511021_30511023delGAT	ENSP00000348168:p.Ser36del						p.SS34del	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	384_386	-			34			Poly-Ser.		D3DSV2|Q9H2B9	In_Frame_Del	DEL	ENST00000355904.4	37	c.102_104delATC	CCDS6078.1																																																																																				0.384	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		8	797						8	797	---	---	---	---	-	30511014	GAT	-	30511012	7	5	80	1	0	1	0	1	0	0	0	0	6887	1059	37	0	799	0	GTF2E2	8	30511012	In_Frame_Del	DEL	GAT	TCGA-IB-7652-01A-11D-2154-08	29013628	30511012	115853010	58	32034											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					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)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203	182	189					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	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.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	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)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		8	912						8	912	---	---	---	---	-	38205092	T	-	38205092	7	5	80	1	0	1	0	1	0	0	0	0	17417	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	7694080	38205092	108158930	59	32035											
PXDNL	137902	broad.mit.edu	37	chr8	52384855	52384855	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctgcggctcaaaagtaattCgggggctctctgcaacaaaa	10	11	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:52384855C>T	ENST00000356297.4	-	8	804	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAAAGTAATTCGGGGGCTCTC	0.413																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(703-705)cGa>cAa		peroxidasin homolog (Drosophila)-like							96	90	92					8																	52384855		1837	4075	5912	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384855C>T		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.704G>A	8.37:g.52384855C>T	ENSP00000348645:p.Arg235Gln					PXDNL_ENST00000543296.1_Missense_Mutation_p.R235Q	p.R235Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			8	804	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	235			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.704G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	8.831	0.940018	0.18281	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66815	-0.23;-0.23	3.84	2.96	0.34315	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51975	0.1706	N	0.25332	0.735	0.24906	N	0.992072	P	0.47350	0.894	B	0.42495	0.389	T	0.30909	-0.9962	9	0.27785	T	0.31	.	9.0746	0.36513	0.0:0.8869:0.0:0.1131	.	235	A1KZ92	PXDNL_HUMAN	Q	235	ENSP00000348645:R235Q;ENSP00000444865:R235Q	ENSP00000348645:R235Q	R	-	2	0	PXDNL	52547408	0.542000	0.26426	0.060000	0.19600	0.164000	0.22412	3.613000	0.54152	0.627000	0.30340	-0.350000	0.07774	CGA		0.413	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		17	365	0	0	0	1	0	17	365					T	52384855	C	T	52384855	3	4	80	1	0	0	0	0	1	0	0	0	12898	884	31	1	3751	1	PXDNL	8	52384855	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	14179763	52384855	93979167	60	32036											
COL14A1	7373	broad.mit.edu	37	chr8	121240956	121240956	+	Frame_Shift_Del	DEL	T	T	-													atattgcttttagttgacagTttttggacagaaccagctac							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr8:121240956delT	ENST00000297848.3	+	18	2415	c.2145delT	c.(2143-2145)agtfs	p.S715fs	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.S620fs|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.S715fs|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAGTTGACAGTTTTTGGACAG	0.333																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2143-2145)agfs		collagen, type XIV, alpha 1							149	142	145					8																	121240956		2203	4300	6503	SO:0001589	frameshift_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121240956delT		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.2145delT	8.37:g.121240956delT	ENSP00000297848:p.Ser715fs					COL14A1_ENST00000309791.4_Frame_Shift_Del_p.S715fs|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.S620fs|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	p.S715fs	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		18	2415	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		715						Frame_Shift_Del	DEL	ENST00000297848.3	37	c.2145delT	CCDS34938.1																																																																																				0.333	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		7	590						7	590	---	---	---	---	-	121240956	T	-	121240956	7	5	80	1	0	1	0	1	0	0	0	0	3680	1722	60	0	2211	0	COL14A1	8	121240956	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	68856101	121240956	25123066	61	32037											
OR13F1	138805	broad.mit.edu	37	chr9	107267140	107267140	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctggtgcagttaatcatGctggtgatcagtgtacttct	10	9	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:107267140G>A	ENST00000334726.2	+	1	686	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGTTAATCATGCTGGTGATCA	0.433																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(595-597)atG>atA		olfactory receptor, family 13, subfamily F, member 1							341	304	317					9																	107267140		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267140G>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"GPCR / Class A : Olfactory receptors"	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.597G>A	9.37:g.107267140G>A	ENSP00000334452:p.Met199Ile						p.M199I	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	686	+			199					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.597G>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918213	0.17982	.	.	ENSG00000186881	ENST00000334726	T	0.00048	8.82	4.29	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.091249	0.47093	N	0.000241	T	0.00073	0.0002	N	0.05608	-0.01	0.09310	N	1	B	0.17038	0.02	B	0.20384	0.029	T	0.06391	-1.0829	10	0.30078	T	0.28	.	5.7443	0.18112	0.3867:0.0:0.6133:0.0	.	199	Q8NGS4	O13F1_HUMAN	I	199	ENSP00000334452:M199I	ENSP00000334452:M199I	M	+	3	0	OR13F1	106306961	0.006000	0.16342	0.148000	0.22405	0.993000	0.82548	0.163000	0.16520	0.572000	0.29383	0.650000	0.86243	ATG		0.433	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			80	1121	0	0	0	1	0	80	1121					A	107267140	G	A	107267140	3	1	80	1	0	0	0	0	1	0	0	0	10983	1319	46	2	599	2	OR13F1	9	107267140	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		107267140	33946291	62	32038											
SVEP1	79987	broad.mit.edu	37	chr9	113169147	113169147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtggaatgttacttcCttcatgaagccatagtccag	9	9	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:113169147C>G	ENST00000401783.2	-	38	9069	c.8733G>C	c.(8731-8733)aaG>aaC	p.K2911N	SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2911	Sushi 25. {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						ATGTTACTTCCTTCATGAAGC	0.552																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8731-8733)aaG>aaC		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							103	104	104					9																	113169147		2061	4208	6269	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169147C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8733G>C	9.37:g.113169147C>G	ENSP00000384917:p.Lys2911Asn					SVEP1_ENST00000297826.5_Missense_Mutation_p.K837N|SVEP1_ENST00000374469.1_Missense_Mutation_p.K2888N	p.K2911N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9069	-			2911			Sushi 25.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8733G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927013	0.34002	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64085	-0.08;-0.08;-0.08	5.51	3.64	0.41730	Complement control module (2);Sushi/SCR/CCP (3);	0.285646	0.43919	D	0.000511	T	0.44808	0.1311	L	0.31526	0.94	0.80722	D	1	P	0.40578	0.722	B	0.39617	0.305	T	0.29912	-0.9996	10	0.30854	T	0.27	.	5.6066	0.17383	0.0:0.6236:0.0:0.3764	.	2911	Q4LDE5	SVEP1_HUMAN	N	2911;2888;837	ENSP00000384917:K2911N;ENSP00000363593:K2888N;ENSP00000297826:K837N	ENSP00000297826:K837N	K	-	3	2	SVEP1	112208968	0.920000	0.31207	1.000000	0.80357	0.876000	0.50452	-0.039000	0.12124	1.303000	0.44873	0.591000	0.81541	AAG		0.552	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				92	652	0	0	0	1	0	92	652					G	113169147	C	G	113169147	3	3	80	1	0	0	0	0	1	0	0	0	15472	680	24	5	2026	5	SVEP1	9	113169147	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5902007	113169147	28044284	63	32039											
DAB2IP	153090	broad.mit.edu	37	chr9	124535711	124535711	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccccagtacccgcctgagGcagcagtcctcttcctccaa	9	18	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:124535711G>T	ENST00000408936.3	+	12	3086	c.2904G>T	c.(2902-2904)agG>agT	p.R968S	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	968					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						CCCGCCTGAGGCAGCAGTCCT	0.652																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2902-2904)agG>agT		DAB2 interacting protein							13	16	15					9																	124535711		2198	4297	6495	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535711G>T	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.2904G>T	9.37:g.124535711G>T	ENSP00000386183:p.Arg968Ser					DAB2IP_ENST00000309989.1_Missense_Mutation_p.R844S|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R940S	p.R968S			Q5VWQ8	DAB2P_HUMAN			12	3086	+			968					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2904G>T		.	.	.	.	.	.	.	.	.	.	G	10.61	1.397162	0.25205	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.7	3.73	0.42828	.	0.237534	0.39759	N	0.001274	T	0.17534	0.0421	L	0.53561	1.675	0.46954	D	0.999269	B;P	0.35033	0.271;0.481	B;B	0.42738	0.079;0.396	T	0.03852	-1.0998	10	0.13108	T	0.6	.	13.3473	0.60582	0.0:0.1591:0.8409:0.0	.	968;940	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	S	940;968;877;844	ENSP00000259371:R940S;ENSP00000386183:R968S;ENSP00000362887:R877S;ENSP00000310827:R844S	ENSP00000259371:R940S	R	+	3	2	DAB2IP	123575532	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	1.058000	0.30504	2.169000	0.68431	0.313000	0.20887	AGG		0.652	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		10	60	1	0	0.00010058	1	0.000104771	10	60					T	124535711	G	T	124535711	3	4	80	1	0	0	0	0	1	0	0	0	4230	1194	42	3	2866	3	DAB2IP	9	124535711	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	11366564	124535711	16677720	64	32040											
PTGS1	5742	broad.mit.edu	37	chr9	125140773	125140773	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctctttcacccacttcctGctcactcacgggcgctggtt	7	18	4	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125140773G>T	ENST00000362012.2	+	4	278	c.273G>T	c.(271-273)ctG>ctT	p.L91L	PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000373698.5_5'UTR	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)	91					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)	CCCACTTCCTGCTCACTCACG	0.622																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(271-273)ctG>ctT		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						87	90	89					9																	125140773		2203	4300	6503	SO:0001819	synonymous_variant	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125140773G>T	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.273G>T	9.37:g.125140773G>T						PTGS1_ENST00000223423.4_Silent_p.L91L|PTGS1_ENST00000540753.1_Silent_p.L66L|PTGS1_ENST00000373698.5_5'UTR	p.L91L	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			4	278	+			91					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Silent	SNP	ENST00000362012.2	37	c.273G>T	CCDS6842.1																																																																																				0.622	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			117	580	1	0	2.51308e-46	1	2.90529e-46	117	580					T	125140773	G	T	125140773	2	4	80	1	0	0	0	0	0	0	0	1	12803	1306	46	3		3	PTGS1	9	125140773	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	605062	125140773	16072658	65	32041											
OR1K1	392392	broad.mit.edu	37	chr9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgatgtacagggggcactccGagcccttctcattgggcgaa	13	12	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:125563309G>A	ENST00000277309.2	+	1	940	c.908G>A	c.(907-909)cGa>cAa	p.R303Q		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	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(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGGGCACTCCGAGCCCTTCTC	0.582																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(907-909)cGa>cAa		olfactory receptor, family 1, subfamily K, member 1							47	43	44					9																	125563309		2203	4300	6503	SO:0001583	missense	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563309G>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.908G>A	9.37:g.125563309G>A	ENSP00000277309:p.Arg303Gln						p.R303Q	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	940	+			303					B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	ENST00000277309.2	37	c.908G>A	CCDS35132.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211147	0.09757	.	.	ENSG00000165204	ENST00000277309	T	0.39406	1.08	4.49	1.68	0.24146	.	0.252216	0.20517	N	0.090769	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.16867	-1.0388	10	0.23891	T	0.37	.	8.1058	0.30885	0.2689:0.0:0.7311:0.0	.	303	Q8NGR3	OR1K1_HUMAN	Q	303	ENSP00000277309:R303Q	ENSP00000277309:R303Q	R	+	2	0	OR1K1	124603130	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.119000	0.15626	0.171000	0.19730	-0.244000	0.11960	CGA		0.582	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			108	224	0	0	0	1	0	108	224					A	125563309	G	A	125563309	3	1	80	1	0	0	0	0	1	0	0	0	11004	1058	37	1	910	1	OR1K1	9	125563309	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	422536	125563309	15650122	66	32042											
PRDM12	59335	broad.mit.edu	37	chr9	133540159	133540159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacagcttcctgtacggccGctggcgcaacgtgctcgggg	15	14	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:133540159G>A	ENST00000253008.2	+	1	179	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	40					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CTGTACGGCCGCTGGCGCAAC	0.677																																						ENST00000253008.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(118-120)cGc>cAc		PR domain containing 12							16	14	15					9																	133540159		2173	4237	6410	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540159G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"Zinc fingers, C2H2-type"	13997	protein-coding gene	gene with protein product	"PR-domain containing protein 12", "PR-domain zinc finger protein 12"					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.119G>A	9.37:g.133540159G>A	ENSP00000253008:p.Arg40His						p.R40H	NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	1	179	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	40					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.119G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905725	0.52333	.	.	ENSG00000130711	ENST00000253008	T	0.09723	2.95	4.48	3.51	0.40186	.	0.054397	0.64402	D	0.000002	T	0.06645	0.0170	L	0.29908	0.895	0.44079	D	0.996835	P	0.48640	0.913	B	0.36766	0.232	T	0.44190	-0.9344	10	0.16420	T	0.52	-16.2368	11.8827	0.52583	0.0:0.0:0.8247:0.1752	.	40	Q9H4Q4	PRD12_HUMAN	H	40	ENSP00000253008:R40H	ENSP00000253008:R40H	R	+	2	0	PRDM12	132529980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.872000	0.75536	2.026000	0.59711	0.462000	0.41574	CGC		0.677	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		3	62	0	0	0	1	0	3	62					A	133540159	G	A	133540159	3	1	80	1	0	0	0	0	1	0	0	0	12500	1087	38	1	121	1	PRDM12	9	133540159	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	7976850	133540159	7673272	67	32043											
TTF1	7270	broad.mit.edu	37	chr9	135277201	135277202	+	Frame_Shift_Ins	INS	-	-	T													cctggtgattggactttttcINSttttttttcttagacttgtt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135277201_135277202insT	ENST00000334270.2	-	2	1046_1047	c.1007_1008insA	c.(1006-1008)aagfs	p.K336fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	336	Poly-Lys.				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)		TGGACTTTTTCTTTTTTTTCTT	0.51																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1006-1008)aaafs		transcription termination factor, RNA polymerase I																																				SO:0001589	frameshift_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277201_135277202insT	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.1008dupA	9.37:g.135277209_135277209dupT	ENSP00000333920:p.Lys336fs						p.K336fs	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	1046_1047	-		Myeloproliferative disorder(178;0.204)	336			Poly-Lys.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	ENST00000334270.2	37	c.1007_1008insA	CCDS6948.1																																																																																				0.51	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		7	1113						7	1113	---	---	---	---	T	135277202	-	T	135277201	7	5	80	1	0	1	1	0	0	0	0	0	16772	912	32	0	1749	0	TTF1	9	135277201	Frame_Shift_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	1737042	135277201	5936230	68	32044											
DDX31	64794	broad.mit.edu	37	chr9	135487492	135487492	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accttttcacgtgtgctttcCtcttctttctagtcaaggca	6	12	5	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:135487492C>G	ENST00000372159.3	-	19	2442	c.2291G>C	c.(2290-2292)aGg>aCg	p.R764T	DDX31_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	764						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GTGTGCTTTCCTCTTCTTTCT	0.532																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(2290-2292)aGg>aCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							228	181	197					9																	135487492		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135487492C>G	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"DEAD-boxes", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16715	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 25"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.2291G>C	9.37:g.135487492C>G	ENSP00000361232:p.Arg764Thr					DDX31_ENST00000438527.3_Missense_Mutation_p.R635T|DDX31_ENST00000372153.1_Missense_Mutation_p.R691T	p.R764T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	19	2442	-			764					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.2291G>C	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719394	0.30503	.	.	ENSG00000125485	ENST00000372159;ENST00000372153;ENST00000438527	T;T;T	0.03717	4.33;3.83;4.29	5.84	-2.42	0.06542	.	0.976044	0.08418	N	0.948855	T	0.03434	0.0099	L	0.38175	1.15	0.80722	D	1	B;B	0.20671	0.047;0.04	B;B	0.15484	0.013;0.008	T	0.34601	-0.9822	10	0.34782	T	0.22	-5.4579	8.5087	0.33204	0.0:0.2988:0.1156:0.5855	.	691;764	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	T	764;691;635	ENSP00000361232:R764T;ENSP00000361226:R691T;ENSP00000387730:R635T	ENSP00000361226:R691T	R	-	2	0	DDX31	134477313	0.449000	0.25689	0.028000	0.17463	0.076000	0.17211	-0.315000	0.08081	-0.512000	0.06505	-0.768000	0.03414	AGG		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		126	611	0	0	0	1	0	126	611					G	135487492	C	G	135487492	3	3	80	1	0	0	0	0	1	0	0	0	4367	681	24	5	272	5	DDX31	9	135487492	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	210291	135487492	5725939	69	32045											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136402618	136402618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagtggacggcgtgttcccGcagttgcgggggtggggtga	20	8	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:136402618G>A	ENST00000354484.4	+	3	739	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ADAMTSL2_ENST00000393061.3_Missense_Mutation_p.R170H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	61	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCGTGTTCCCGCAGTTGCGGG	0.672																																						ENST00000393061.3																			0				kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14						c.(508-510)cGc>cAc		ADAMTS-like 2							34	40	38					9																	136402618		2203	4298	6501	SO:0001583	missense	9719				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr9:136402618G>A	AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.182G>A	9.37:g.136402618G>A	ENSP00000346478:p.Arg61His					ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R61H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R61H	p.R170H			Q86TH1	ATL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)	3	941	+			61					B1B0D5|O60345	Missense_Mutation	SNP	ENST00000354484.4	37	c.509G>A	CCDS6976.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156452	0.94686	.	.	ENSG00000197859	ENST00000354484;ENST00000393061;ENST00000393060	T;T;T	0.52983	0.64;0.64;0.64	4.84	4.84	0.62591	.	0.000000	0.56097	U	0.000031	T	0.74496	0.3724	M	0.88704	2.975	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.81093	-0.1089	10	0.87932	D	0	.	17.9259	0.88983	0.0:0.0:1.0:0.0	.	61	Q86TH1	ATL2_HUMAN	H	61;170;61	ENSP00000346478:R61H;ENSP00000376781:R170H;ENSP00000376780:R61H	ENSP00000346478:R61H	R	+	2	0	ADAMTSL2	135392439	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.401000	0.97294	2.229000	0.72834	0.491000	0.48974	CGC		0.672	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254619.1	NM_014694		51	244	0	0	0	1	0	51	244					A	136402618	G	A	136402618	3	1	80	1	0	0	0	0	1	0	0	0	275	1087	38	1	188	1	ADAMTSL2	9	136402618	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	915126	136402618	4810813	70	32046											
KCNT1	57582	broad.mit.edu	37	chr9	138675926	138675926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcctgccgttcgccgcCggccgcgtcttcagcatcag	11	18	3	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr9:138675926C>T	ENST00000263604.3	+	25	2841	c.2841C>T	c.(2839-2841)gcC>gcT	p.A947A	KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000298480.5_Silent_p.A966A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A|KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000487664.1_Silent_p.A921A			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	947					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CGTTCGCCGCCGGCCGCGTCT	0.667																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2896-2898)gcC>gcT		potassium channel, subfamily T, member 1							73	64	67					9																	138675926		2203	4300	6503	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138675926C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2841C>T	9.37:g.138675926C>T						KCNT1_ENST00000491806.2_Silent_p.A933A|KCNT1_ENST00000490355.2_Silent_p.A945A|KCNT1_ENST00000263604.3_Silent_p.A947A|KCNT1_ENST00000488444.2_Silent_p.A947A|KCNT1_ENST00000487664.1_Silent_p.A921A|KCNT1_ENST00000486577.2_Silent_p.A925A|KCNT1_ENST00000371757.2_Silent_p.A966A	p.A966A			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	25	2972	+		Myeloproliferative disorder(178;0.0821)	966					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.2898C>T																																																																																					0.667	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		38	341	0	0	0	1	0	38	341					T	138675926	C	T	138675926	2	4	80	1	0	0	0	0	0	0	0	1	8121	639	23	1		1	KCNT1	9	138675926	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2273308	138675926	2537505	71	32047											
KIAA1217	56243	broad.mit.edu	37	chr10	24762714	24762714	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catttgcctacactgggctcCaaaacaccccctgcctctcc	5	19	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:24762714C>A	ENST00000376454.3	+	6	1434	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S	KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000307544.6_Silent_p.S186S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000376451.2_Silent_p.S186S|KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000396446.1_Silent_p.S186S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	468					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						CACTGGGCTCCAAAACACCCC	0.507																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(556-558)tcC>tcA		KIAA1217							86	72	77					10																	24762714		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762714C>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1404C>A	10.37:g.24762714C>A						KIAA1217_ENST00000458595.1_Silent_p.S468S|KIAA1217_ENST00000396445.1_Silent_p.S186S|KIAA1217_ENST00000376452.3_Silent_p.S468S|KIAA1217_ENST00000376462.1_Silent_p.S388S|KIAA1217_ENST00000376454.3_Silent_p.S468S|KIAA1217_ENST00000430453.2_Silent_p.S389S|KIAA1217_ENST00000396446.1_Silent_p.S186S|KIAA1217_ENST00000307544.6_Silent_p.S186S	p.S186S			Q5T5P2	SKT_HUMAN			2	818	+			468					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.558C>A	CCDS31165.1																																																																																				0.507	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		78	348	1	0	3.1711e-36	1	3.62411e-36	78	348					A	24762714	C	A	24762714	2	1	80	1	0	0	0	0	0	0	0	1	8246	581	21	3		3	KIAA1217	10	24762714	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08		24762714	110772033	72	32048											
ZEB1	6935	broad.mit.edu	37	chr10	31810814	31810814	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctactcaactacggtcagcCctgcagtccaagaaccaccc	6	18	2	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:31810814C>T	ENST00000320985.10	+	7	2661	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000446923.2_Missense_Mutation_p.P835S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	851					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)				TACGGTCAGCCCTGCAGTCCA	0.463																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2503-2505)Cct>Tct		zinc finger E-box binding homeobox 1							83	83	83					10																	31810814		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810814C>T	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.2551C>T	10.37:g.31810814C>T	ENSP00000319248:p.Pro851Ser					ZEB1_ENST00000320985.10_Missense_Mutation_p.P851S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P852S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P831S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.P784S	p.P835S	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN			7	2894	+		Prostate(175;0.0156)	851					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2503C>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067296	0.36470	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13778	2.86;2.57;2.59;2.56;2.6	5.68	4.78	0.61160	.	0.000000	0.56097	D	0.000028	T	0.28267	0.0698	L	0.47716	1.5	0.80722	D	1	B;D;D;P;D;B;D;P	0.89917	0.328;1.0;1.0;0.615;1.0;0.04;1.0;0.615	B;D;D;B;D;B;D;B	0.87578	0.076;0.998;0.996;0.158;0.996;0.034;0.996;0.158	T	0.03566	-1.1024	10	0.15499	T	0.54	-7.6384	15.0713	0.72040	0.0:0.9318:0.0:0.0682	.	784;851;835;851;851;831;852;851	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	S	633;851;852;846;784;851;831;742;835	ENSP00000444282:P633S;ENSP00000354487:P852S;ENSP00000444891:P784S;ENSP00000319248:P851S;ENSP00000391612:P835S	ENSP00000319248:P851S	P	+	1	0	ZEB1	31850820	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.779000	0.55379	1.534000	0.49203	0.650000	0.86243	CCT		0.463	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		62	269	0	0	0	1	0	62	269					T	31810814	C	T	31810814	3	4	80	1	0	0	0	0	1	0	0	0	17676	623	22	2	2591	2	ZEB1	10	31810814	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	7048100	31810814	103723933	73	32049											
MYOZ1	58529	broad.mit.edu	37	chr10	75399731	75399731	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttccatgatcagcttgctGgatttcctcttcttattagg	8	9	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:75399731G>A	ENST00000359322.4	-	2	409	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TCAGCTTGCTGGATTTCCTCT	0.517																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(43-45)tcC>tcT		myozenin 1							171	147	155					10																	75399731		2203	4300	6503	SO:0001819	synonymous_variant	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75399731G>A	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"calsarcin-2"	605603	"myozenin"	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.45C>T	10.37:g.75399731G>A							p.S15S	NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN			2	409	-	Prostate(51;0.0112)		15						Silent	SNP	ENST00000359322.4	37	c.45C>T	CCDS7330.1																																																																																				0.517	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			74	339	0	0	0	1	0	74	339					A	75399731	G	A	75399731	2	1	80	1	0	0	0	0	0	0	0	1	10136	1335	47	2		2	MYOZ1	10	75399731	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	43588917	75399731	60135016	74	32050											
FAM190B	54462	broad.mit.edu	37	chr10	86131917	86131917	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaagaactgattgaaaAtgaaagttatagaacaaaaa	8	4	0	5			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr10:86131917A>T	ENST00000224756.8	+	2	1294	c.1109A>T	c.(1108-1110)aAt>aTt	p.N370I	CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I|CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	370					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CTGATTGAAAATGAAAGTTAT	0.378																																						ENST00000224756.8																			0											c.(1108-1110)aAt>aTt		coiled-coil serine-rich protein 2							93	91	92					10																	86131917		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86131917A>T		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.1109A>T	10.37:g.86131917A>T	ENSP00000224756:p.Asn370Ile					CCSER2_ENST00000372088.2_Missense_Mutation_p.N370I|CCSER2_ENST00000359979.4_Missense_Mutation_p.N370I	p.N370I	NM_018999.2	NP_061872.2					2	1294	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.1109A>T	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.699591	0.48307	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.50001	0.76;2.1;2.08	5.73	5.73	0.89815	.	0.239465	0.36665	N	0.002479	T	0.57814	0.2079	L	0.51422	1.61	0.80722	D	1	D;D;D	0.67145	0.996;0.993;0.992	D;P;P	0.65010	0.931;0.837;0.839	T	0.61382	-0.7074	10	0.72032	D	0.01	-21.1188	8.5083	0.33201	0.9147:0.0:0.0853:0.0	.	370;370;370	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	I	370	ENSP00000353068:N370I;ENSP00000224756:N370I;ENSP00000361160:N370I	ENSP00000224756:N370I	N	+	2	0	FAM190B	86121897	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.214000	0.51161	2.197000	0.70478	0.533000	0.62120	AAT		0.378	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		114	411	0	0	0	1	0	114	411					T	86131917	A	T	86131917	3	4	80	1	0	0	0	0	1	0	0	0	5543	101	4	5	1111	5	FAM190B	10	86131917	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	10732186	86131917	49402830	75	32051											
OR10A6	390093	broad.mit.edu	37	chr11	7949776	7949776	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggcccatgaaaatataAttaatttcataaaaactcct	3	8	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:7949776A>G	ENST00000309838.2	-	1	433	c.434T>C	c.(433-435)aTt>aCt	p.I145T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	145						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)		TGAAAATATAATTAATTTCAT	0.338																																						ENST00000309838.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22						c.(433-435)aTt>aCt		olfactory receptor, family 10, subfamily A, member 6							37	43	41					11																	7949776		2187	4292	6479	SO:0001583	missense	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949776A>G	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.434T>C	11.37:g.7949776A>G	ENSP00000312470:p.Ile145Thr						p.I145T	NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	433	-			145					Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	c.434T>C	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	A	1.813	-0.474282	0.04414	.	.	ENSG00000175393	ENST00000309838	T	0.43688	0.94	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.614618	0.13200	N	0.406025	T	0.30039	0.0752	N	0.16862	0.45	0.09310	N	1	B	0.22080	0.064	B	0.23852	0.049	T	0.24225	-1.0166	10	0.62326	D	0.03	.	11.9092	0.52729	1.0:0.0:0.0:0.0	.	145	Q8NH74	O10A6_HUMAN	T	145	ENSP00000312470:I145T	ENSP00000312470:I145T	I	-	2	0	OR10A6	7906352	0.000000	0.05858	0.154000	0.22540	0.014000	0.08584	1.296000	0.33389	1.983000	0.57843	0.533000	0.62120	ATT		0.338	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		82	266	0	0	0	1	0	82	266					G	7949776	A	G	7949776	3	3	80	1	0	0	0	0	1	0	0	0	10936	101	4	4	513	4	OR10A6	11	7949776	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		7949776	127056740	76	32052											
OR9G1	390174	broad.mit.edu	37	chr11	56468064	56468064	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggaaatctgtcgttTctggatctctggtattcttc	8	9	5	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:56468064T>C	ENST00000312153.1	+	1	201	c.201T>C	c.(199-201)ttT>ttC	p.F67F		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATCTGTCGTTTCTGGATCTCT	0.463																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(199-201)ttT>ttC		olfactory receptor, family 9, subfamily G, member 1							141	124	130					11																	56468064		2201	4296	6497	SO:0001819	synonymous_variant	390174							g.chr11:56468064T>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.201T>C	11.37:g.56468064T>C							p.F67F	NM_001005213.1	NP_001005213.1					1	201	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.201T>C	CCDS31536.1																																																																																				0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		28	303	0	0	0	1	0	28	303					C	56468064	T	C	56468064	2	2	80	1	0	0	0	0	0	0	0	1	11292	1780	62	4		4	OR9G1	11	56468064	Silent	SNP	T	TCGA-IB-7652-01A-11D-2154-08	48518288	56468064	78538452	77	32053											
OR5A1	219982	broad.mit.edu	37	chr11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T													ttgtgggctgtgctgctcagINSttttttttctttgtcggcat					rs370698632		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(310-312)tttfs	p.F104fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGCTCAGTTTTTTTTCTT	0.51																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(307-312)cattttfs		olfactory receptor, family 5, subfamily A, member 1																																				SO:0001589	frameshift_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210950_59210951insT	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.317dupT	11.37:g.59210958_59210958dupT	ENSP00000303096:p.Phe104fs						p.HF103fs	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	334_335	+			103					B9EH58|Q6IFF2|Q96RB1	Frame_Shift_Ins	INS	ENST00000302030.2	37	c.309_310insT	CCDS31561.1																																																																																				0.51	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		7	1039						7	1039	---	---	---	---	T	59210951	-	T	59210950	7	5	80	1	0	1	1	0	0	0	0	0	11181	1020	36	0	311	0	OR5A1	11	59210950	Frame_Shift_Ins	INS	-	TCGA-IB-7652-01A-11D-2154-08	2742886	59210950	75795566	78	32054											
SLC22A11	55867	broad.mit.edu	37	chr11	64329841	64329841	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcctggcctttgcccTgcgggactggaggactctcc	16	14	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:64329841T>A	ENST00000301891.4	+	4	1129	c.755T>A	c.(754-756)cTg>cAg	p.L252Q	SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	252					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)	GCCTTTGCCCTGCGGGACTGG	0.627																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(754-756)cTg>cAg		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						74	80	78					11																	64329841		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64329841T>A	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.755T>A	11.37:g.64329841T>A	ENSP00000301891:p.Leu252Gln					SLC22A11_ENST00000377585.3_Missense_Mutation_p.L252Q|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.L252Q	p.L252Q	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			4	1129	+			252					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.755T>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	18.76	3.692873	0.68271	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.68181	-0.31;-0.31;-0.31	3.58	3.58	0.41010	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173586	0.38326	U	0.001730	T	0.81772	0.4893	M	0.86502	2.82	0.38636	D	0.951485	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	D;D;D;D	0.87578	0.969;0.998;0.98;0.98	D	0.85294	0.1069	10	0.87932	D	0	.	10.2369	0.43288	0.0:0.0:0.0:1.0	.	252;46;252;252	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0	.;.;.;S22AB_HUMAN	Q	252	ENSP00000301891:L252Q;ENSP00000366809:L252Q;ENSP00000366804:L252Q	ENSP00000301891:L252Q	L	+	2	0	SLC22A11	64086417	0.996000	0.38824	1.000000	0.80357	0.752000	0.42762	6.548000	0.73896	1.512000	0.48834	0.454000	0.30748	CTG		0.627	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		11	660	0	0	0	1	0	11	660					A	64329841	T	A	64329841	3	1	80	1	0	0	0	0	1	0	0	0	14492	1580	55	5	769	5	SLC22A11	11	64329841	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	5118891	64329841	70676675	79	32055											
PC	5091	broad.mit.edu	37	chr11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcagggacgtgatgggggCatctgtgccagggacaacgg	18	8	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000393960.1_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(514-516)Gcc>Acc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						122	125	124					11																	66638642		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638642C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.514G>A	11.37:g.66638642C>T	ENSP00000377530:p.Ala172Thr					PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393958.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T	p.A172T	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	7	795	-		Melanoma(852;0.0525)	172			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.514G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		48	269	0	0	0	1	0	48	269					T	66638642	C	T	66638642	3	4	80	1	0	0	0	0	1	0	0	0	11539	710	25	2	3090	2	PC	11	66638642	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	2308801	66638642	68367874	80	32056											
KDM2A	22992	broad.mit.edu	37	chr11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-													tggggggagaggaggaggaaGaggaggaggaggaggaggaa							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					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						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	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.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		8	195						8	195	---	---	---	---	-	67018081	GAG	-	67018079	7	5	80	1	0	1	0	1	0	0	0	0	8154	943	33	0	2640	0	KDM2A	11	67018079	In_Frame_Del	DEL	GAG	TCGA-IB-7652-01A-11D-2154-08	379437	67018079	67988437	81	32057											
CCDC81	60494	broad.mit.edu	37	chr11	86131064	86131064	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgctgcgatgaagaagCagcgagacctggaggacaag	17	7	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:86131064C>T	ENST00000445632.2	+	14	2058	c.1786C>T	c.(1786-1788)Cag>Tag	p.Q596*	CCDC81_ENST00000278487.3_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	596										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)				GATGAAGAAGCAGCGAGACCT	0.517																																						ENST00000278487.3																			0				kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20						c.(991-993)Cag>Tag		coiled-coil domain containing 81							136	113	121					11																	86131064		2202	4299	6501	SO:0001587	stop_gained	60494							g.chr11:86131064C>T	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.1786C>T	11.37:g.86131064C>T	ENSP00000415528:p.Gln596*					CCDC81_ENST00000445632.2_Nonsense_Mutation_p.Q596*|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.Q506*|CCDC81_ENST00000528728.1_Nonsense_Mutation_p.Q331*	p.Q331*			Q6ZN84	CCD81_HUMAN			13	2070	+		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)	596					A0AVL7|Q53FW3|Q9H5E5	Nonsense_Mutation	SNP	ENST00000445632.2	37	c.991C>T	CCDS53691.1	.	.	.	.	.	.	.	.	.	.	C	47	13.881331	0.99768	.	.	ENSG00000149201	ENST00000354755;ENST00000278487;ENST00000445632;ENST00000528728	.	.	.	5.69	5.69	0.88448	.	0.208392	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.0404	17.2949	0.87168	0.0:1.0:0.0:0.0	.	.	.	.	X	506;331;596;331	.	.	Q	+	1	0	CCDC81	85808712	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.566000	0.45948	2.685000	0.91497	0.555000	0.69702	CAG		0.517	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393756.1	NM_021827		63	271	0	0	0	1	0	63	271					T	86131064	C	T	86131064	4	4	80	1	0	0	0	0	0	1	0	0	2862	711	25	2	1840	2	CCDC81	11	86131064	Nonsense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	19112985	86131064	48875452	82	32058											
GPR83	10888	broad.mit.edu	37	chr11	94134167	94134167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttgccaaagagtgagaagaCaatgatgaaggagtaagcca	13	5	0	5			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:94134167C>A	ENST00000243673.2	-	1	418	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	83					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)				AGTGAGAAGACAATGATGAAG	0.557																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(247-249)Gtc>Ttc		G protein-coupled receptor 83							98	90	93					11																	94134167		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134167C>A	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.247G>T	11.37:g.94134167C>A	ENSP00000243673:p.Val83Phe					GPR83_ENST00000539203.2_Missense_Mutation_p.V83F	p.V83F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			1	418	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	83					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.247G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475211	0.43942	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.39997	1.05;1.05	4.84	-4.47	0.03525	.	0.508381	0.21011	N	0.081692	T	0.33673	0.0871	L	0.59436	1.845	0.44702	D	0.997697	B	0.19706	0.038	B	0.17433	0.018	T	0.02774	-1.1112	10	0.46703	T	0.11	.	11.5618	0.50780	0.0:0.4821:0.0:0.5179	.	83	Q9NYM4	GPR83_HUMAN	F	83	ENSP00000243673:V83F;ENSP00000441550:V83F	ENSP00000243673:V83F	V	-	1	0	GPR83	93773815	0.059000	0.20769	0.684000	0.30055	0.982000	0.71751	0.089000	0.15002	-1.110000	0.02992	0.455000	0.32223	GTC		0.557	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		38	135	1	0	4.62619e-21	1	5.19797e-21	38	135					A	94134167	C	A	94134167	3	1	80	1	0	0	0	0	1	0	0	0	6742	478	17	3	1040	3	GPR83	11	94134167	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	8003103	94134167	40872349	83	32059											
RAB39	54734	broad.mit.edu	37	chr11	107832887	107832887	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaaaactgtcagcagActgtggaatgaagtatatag	11	5	1	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:107832887A>T	ENST00000320578.2	+	2	509	c.443A>T	c.(442-444)gAc>gTc	p.D148V		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	148					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)										CTGTCAGCAGACTGTGGAATG	0.373																																						ENST00000320578.2																			0											c.(442-444)gAc>gTc		RAB39A, member RAS oncogene family							83	82	82					11																	107832887		2201	4298	6499	SO:0001583	missense	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832887A>T	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.443A>T	11.37:g.107832887A>T	ENSP00000322594:p.Asp148Val						p.D148V	NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN			2	509	+			148					A8KAA4|Q8N6W2	Missense_Mutation	SNP	ENST00000320578.2	37	c.443A>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021180	0.35701	.	.	ENSG00000179331	ENST00000320578	T	0.77229	-1.08	4.97	3.83	0.44106	Small GTP-binding protein domain (1);	0.101127	0.42964	D	0.000638	T	0.68860	0.3047	L	0.38838	1.175	0.54753	D	0.999984	B	0.15719	0.014	B	0.21151	0.033	T	0.69705	-0.5073	10	0.87932	D	0	.	11.9655	0.53033	0.7684:0.2315:0.0:0.0	.	148	Q14964	RB39A_HUMAN	V	148	ENSP00000322594:D148V	ENSP00000322594:D148V	D	+	2	0	RAB39	107338097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.952000	0.40343	2.064000	0.61679	0.482000	0.46254	GAC		0.373	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		87	408	0	0	0	1	0	87	408					T	107832887	A	T	107832887	3	4	80	1	0	0	0	0	1	0	0	0	12979	275	10	5	449	5	RAB39	11	107832887	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	13698720	107832887	27173629	84	32060											
NPAT	4863	broad.mit.edu	37	chr11	108032080	108032080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgtatatcctgtaacatttCtgtggtaatcaaagaactgg	8	7	2	1	rs576905510		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:108032080C>T	ENST00000278612.8	-	17	3838	c.3733G>A	c.(3733-3735)Gaa>Aaa	p.E1245K		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1245	Required for acceleration of G1 phase.				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)		TGTAACATTTCTGTGGTAATC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19177	0.0		0.001	False		,,,				2504	0.0					ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(3733-3735)Gaa>Aaa		nuclear protein, ataxia-telangiectasia locus							170	172	171					11																	108032080		1854	4102	5956	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108032080C>T	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.3733G>A	11.37:g.108032080C>T	ENSP00000278612:p.Glu1245Lys						p.E1245K	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	3838	-		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)	1245			Required for acceleration of G1 phase.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.3733G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616831	0.66672	.	.	ENSG00000149308	ENST00000278612	T	0.07567	3.18	5.24	5.24	0.73138	.	0.300838	0.34580	N	0.003851	T	0.23289	0.0563	M	0.69823	2.125	0.58432	D	0.999999	D	0.55385	0.971	P	0.53401	0.725	T	0.00164	-1.1968	10	0.66056	D	0.02	-12.4987	19.3787	0.94523	0.0:1.0:0.0:0.0	.	1245	Q14207	NPAT_HUMAN	K	1245	ENSP00000278612:E1245K	ENSP00000278612:E1245K	E	-	1	0	NPAT	107537290	1.000000	0.71417	0.909000	0.35828	0.109000	0.19521	6.781000	0.75068	2.890000	0.99128	0.650000	0.86243	GAA		0.433	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		39	1394	0	0	0	1	0	39	1394					T	108032080	C	T	108032080	3	4	80	1	0	0	0	0	1	0	0	0	10608	922	32	2	558	2	NPAT	11	108032080	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	199193	108032080	26974436	85	32061											
FDXACB1	91893	broad.mit.edu	37	chr11	111749420	111749420	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agctgggtgcagtccacaccGaaacgtacatcgatacctgg	11	12	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:111749420G>A	ENST00000260257.4	-	2	236	c.189C>T	c.(187-189)ttC>ttT	p.F63F	C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000529270.1_5'Flank|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	63					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						AGTCCACACCGAAACGTACAT	0.458											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(187-189)ttC>ttT		ALG9, alpha-1,2-mannosyltransferase							35	34	35					11																	111749420		1922	4123	6045	SO:0001819	synonymous_variant	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111749420G>A		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.189C>T	11.37:g.111749420G>A			OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	FDXACB1_ENST00000260257.4_Silent_p.F63F|FDXACB1_ENST00000542429.1_Intron	p.F63F			Q9H6U8	ALG9_HUMAN		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)	2	481	-		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)	0					A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.189C>T	CCDS44729.1																																																																																				0.458	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		3	73	0	0	0	1	0	3	73					A	111749420	G	A	111749420	2	1	80	1	0	0	0	0	0	0	0	1	5831	1049	37	1		1	FDXACB1	11	111749420	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	3717340	111749420	23257096	86	32062											
ETS1	2113	broad.mit.edu	37	chr11	128354796	128354799	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													aaagtagtcattctgcaaggTgtctgtctggagagggtctc					rs375110149		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr11:128354796_128354799delTGTC	ENST00000319397.6	-	5	958_961	c.649_652delGACA	c.(649-654)gacaccfs	p.DT217fs	ETS1_ENST00000526145.2_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Frame_Shift_Del_p.DT261fs|ETS1_ENST00000531611.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000345075.4_Frame_Shift_Del_p.DT217fs	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	217	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)		TTCTGCAAGGTGTCTGTCTGGAGA	0.505																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(781-786)ccfs		v-ets avian erythroblastosis virus E26 oncogene homolog 1																																				SO:0001589	frameshift_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128354796_128354799delTGTC		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.649_652delGACA	11.37:g.128354800_128354803delTGTC	ENSP00000324578:p.Asp217fs					ETS1_ENST00000319397.5_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000531611.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000345075.4_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000526145.1_Frame_Shift_Del_p.DT217fs|ETS1_ENST00000535549.1_Intron	p.DT261fs	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	7	849_852	-	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)	217					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Frame_Shift_Del	DEL	ENST00000319397.6	37	c.781_784delGACA	CCDS8475.1																																																																																				0.505	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		37	511						37	511	---	---	---	---	-	128354799	TGTC	-	128354796	7	5	80	1	0	1	0	1	0	0	0	0	5293	1696	59	0	689	0	ETS1	11	128354796	Frame_Shift_Del	DEL	TGTC	TCGA-IB-7652-01A-11D-2154-08	16605376	128354796	6651720	87	32063											
NTF3	4908	broad.mit.edu	37	chr12	5603961	5603961	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaatatttttatgaaacgcGatgtaaggaagccaggccgg	11	7	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:5603961G>A	ENST00000331010.6	+	1	664	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R207Q	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	194					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.R194P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TATGAAACGCGATGTAAGGAA	0.507																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			1	Substitution - Missense(1)	p.R194P(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(619-621)cGa>cAa		neurotrophin 3							56	55	56					12																	5603961		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603961G>A		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.581G>A	12.37:g.5603961G>A	ENSP00000328738:p.Arg194Gln					NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R194Q	p.R207Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	832	+			194					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.620G>A	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118561	0.77323	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.68181	-0.31;-0.31	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.049532	0.64402	D	0.000001	T	0.72203	0.3431	M	0.64997	1.995	0.46564	D	0.999104	D;D	0.76494	0.999;0.999	P;P	0.48815	0.591;0.591	T	0.76664	-0.2876	10	0.87932	D	0	-29.9681	18.2818	0.90101	0.0:0.0:1.0:0.0	.	194;207	P20783;B7Z1T5	NTF3_HUMAN;.	Q	207;194	ENSP00000397297:R207Q;ENSP00000328738:R194Q	ENSP00000328738:R194Q	R	+	2	0	NTF3	5474222	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	3.780000	0.55386	2.583000	0.87209	0.650000	0.86243	CGA		0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			47	250	0	0	0	1	0	47	250					A	5603961	G	A	5603961	3	1	80	1	0	0	0	0	1	0	0	0	10738	1058	37	1	626	1	NTF3	12	5603961	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08		5603961	128247934	88	32064											
TAS2R42	353164	broad.mit.edu	37	chr12	11338898	11338898	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctagagcccaaggaactgaGcttcaaatttctagtatgtc	8	9	3	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:11338898G>A	ENST00000334266.1	-	1	645	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	216					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AAGGAACTGAGCTTCAAATTT	0.418																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(646-648)Ctc>Ttc		taste receptor, type 2, member 42							62	65	64					12																	11338898		2203	4300	6503	SO:0001583	missense	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338898G>A	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.646C>T	12.37:g.11338898G>A	ENSP00000334050:p.Leu216Phe						p.L216F	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	645	-			216					A2RRP4|Q645X0	Missense_Mutation	SNP	ENST00000334266.1	37	c.646C>T	CCDS31747.1	.	.	.	.	.	.	.	.	.	.	G	6.563	0.472116	0.12461	.	.	ENSG00000186136	ENST00000334266	T	0.00832	5.64	3.46	1.58	0.23477	GPCR, rhodopsin-like superfamily (1);	0.571166	0.14537	N	0.313489	T	0.02304	0.0071	M	0.69248	2.105	0.09310	N	1	P	0.41475	0.751	P	0.50860	0.652	T	0.38650	-0.9651	10	0.49607	T	0.09	.	6.0575	0.19819	0.0:0.2103:0.5725:0.2171	.	216	Q7RTR8	T2R42_HUMAN	F	216	ENSP00000334050:L216F	ENSP00000334050:L216F	L	-	1	0	TAS2R42	11230165	0.000000	0.05858	0.250000	0.24296	0.001000	0.01503	0.335000	0.19806	0.302000	0.22762	-1.083000	0.02208	CTC		0.418	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		82	383	0	0	0	1	0	82	383					A	11338898	G	A	11338898	3	1	80	1	0	0	0	0	1	0	0	0	15632	971	34	2	302	2	TAS2R42	12	11338898	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	5734937	11338898	122512997	89	32065											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	85	0	0	0	1	0	8	85					G	25398285	C	G	25398285	3	3	80	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	14059387	25398285	108453610	90	32066											
GDF11	10220	broad.mit.edu	37	chr12	56142711	56142711	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcatcgagatcaacgcctttGatcccagtggcacagacctg	10	13	1	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr12:56142711G>C	ENST00000257868.5	+	2	824	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	263					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAACGCCTTTGATCCCAGTGG	0.622																																						ENST00000257868.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						c.(787-789)Gat>Cat		growth differentiation factor 11							50	34	39					12																	56142711		2203	4300	6503	SO:0001583	missense	0				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56142711G>C	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.787G>C	12.37:g.56142711G>C	ENSP00000257868:p.Asp263His						p.D263H	NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN			2	824	+			263					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.787G>C	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.350476|4.350476	0.82132|0.82132	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.66280|.	-0.2|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74786|0.74786	0.3762|0.3762	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77004|.	0.989|.	T|T	0.76107|0.76107	-0.3080|-0.3080	10|5	0.40728|.	T|.	0.16|.	-6.1484|-6.1484	14.8487|14.8487	0.70281|0.70281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263|.	O95390|.	GDF11_HUMAN|.	H|F	263|235	ENSP00000257868:D263H|.	ENSP00000257868:D263H|.	D|L	+|+	1|3	0|2	GDF11|GDF11	54428978|54428978	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	2.450000|2.450000	0.82876|0.82876	0.555000|0.555000	0.69702|0.69702	GAT|TTG		0.622	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			20	55	0	0	0	1	0	20	55					C	56142711	G	C	56142711	3	2	80	1	0	0	0	0	1	0	0	0	6341	1290	45	5	793	5	GDF11	12	56142711	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	30744426	56142711	77709184	91	32067											
PDS5B	23047	broad.mit.edu	37	chr13	33253063	33253063	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttagcaaaagacttaAcaggtactatatatatgtaa	6	5	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33253063A>T	ENST00000315596.10	+	10	1240	c.1054A>T	c.(1054-1056)Aca>Tca	p.T352S		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	352					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)		AAAAGACTTAACAGGTACTAT	0.368																																						ENST00000315596.10																			0				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						c.(1054-1056)Aca>Tca		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							98	85	89					13																	33253063		1833	4087	5920	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33253063A>T	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.1054A>T	13.37:g.33253063A>T	ENSP00000313851:p.Thr352Ser						p.T352S	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		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)	10	1240	+		Lung SC(185;0.0367)	352					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1054A>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770135	0.90108	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	L	0.54323	1.7	0.80722	D	1	P;B	0.45827	0.867;0.057	P;B	0.53062	0.717;0.058	T	0.67166	-0.5739	10	0.18276	T	0.48	-0.3507	15.5881	0.76502	1.0:0.0:0.0:0.0	.	352;352	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	S	352	ENSP00000313851:T352S	ENSP00000313851:T352S	T	+	1	0	PDS5B	32151063	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.191000	0.94940	2.090000	0.63153	0.459000	0.35465	ACA		0.368	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		36	185	0	0	0	1	0	36	185					T	33253063	A	T	33253063	3	4	80	1	0	0	0	0	1	0	0	0	11734	43	2	5	1088	5	PDS5B	13	33253063	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		33253063	81916815	92	32068											
PDS5B	23047	broad.mit.edu	37	chr13	33332728	33332728	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtcaaagagtactacAtacagtttggaatctcctaa	6	8	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr13:33332728A>G	ENST00000315596.10	+	28	3432	c.3246A>G	c.(3244-3246)acA>acG	p.T1082T		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1082					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)		AGAGTACTACATACAGTTTGG	0.358																																						ENST00000315596.10																			0				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						c.(3244-3246)acA>acG		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							128	124	125					13																	33332728		1851	4088	5939	SO:0001819	synonymous_variant	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33332728A>G	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.3246A>G	13.37:g.33332728A>G							p.T1082T	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		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)	28	3432	+		Lung SC(185;0.0367)	1082					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Silent	SNP	ENST00000315596.10	37	c.3246A>G	CCDS41878.1																																																																																				0.358	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		122	573	0	0	0	1	0	122	573					G	33332728	A	G	33332728	2	3	80	1	0	0	0	0	0	0	0	1	11734	204	8	4		4	PDS5B	13	33332728	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	79665	33332728	81837150	93	32069											
ERO1L	30001	broad.mit.edu	37	chr14	53110325	53110325	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaagttcctgaagttttctAattctttcacacttgtagaa	5	8	3	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:53110325A>T	ENST00000395686.3	-	16	1593	c.1370T>A	c.(1369-1371)tTa>tAa	p.L457*	RP11-841O20.2_ENST00000554055.1_RNA	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	457					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GAAGTTTTCTAATTCTTTCAC	0.303																																						ENST00000395686.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(1369-1371)tTa>tAa		ERO1-like (S. cerevisiae)							44	40	41					14																	53110325		2184	4289	6473	SO:0001587	stop_gained	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53110325A>T	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"ERO1 (S. cerevisiae)-like"			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1370T>A	14.37:g.53110325A>T	ENSP00000379042:p.Leu457*						p.L457*	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN			16	1593	-	Breast(41;0.226)		457					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Nonsense_Mutation	SNP	ENST00000395686.3	37	c.1370T>A	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	A	38	7.030927	0.98013	.	.	ENSG00000197930	ENST00000395686	.	.	.	5.54	5.54	0.83059	.	0.224298	0.37906	N	0.001898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.329	15.1606	0.72782	1.0:0.0:0.0:0.0	.	.	.	.	X	457	.	ENSP00000379042:L457X	L	-	2	0	ERO1L	52180075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.104000	0.89551	2.230000	0.72887	0.528000	0.53228	TTA		0.303	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		4	43	0	0	0	1	0	4	43					T	53110325	A	T	53110325	4	4	80	1	0	0	0	0	0	1	0	0	5257	372	13	5	40	5	ERO1L	14	53110325	Nonsense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		53110325	54239215	94	32070											
DAAM1	23002	broad.mit.edu	37	chr14	59789651	59789651	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttggatggcctatcatgtaTcctcaactttctaaagacca	6	11	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:59789651T>G	ENST00000395125.1	+	5	505	c.482T>G	c.(481-483)aTc>aGc	p.I161S	DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S|DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	161	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)		CTATCATGTATCCTCAACTTT	0.418																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(481-483)aTc>aGc		dishevelled associated activator of morphogenesis 1							147	141	143					14																	59789651		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789651T>G	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.482T>G	14.37:g.59789651T>G	ENSP00000378557:p.Ile161Ser					DAAM1_ENST00000351081.1_Missense_Mutation_p.I161S|DAAM1_ENST00000360909.3_Missense_Mutation_p.I161S	p.I161S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	505	+			161			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.482T>G	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954100	0.73902	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.89050	-2.46;-2.46;-2.46	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	L	0.44542	1.39	0.80722	D	1	D;D	0.54207	0.957;0.965	P;P	0.55749	0.677;0.783	D	0.91609	0.5301	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	161;161	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	S	161	ENSP00000354162:I161S;ENSP00000247170:I161S;ENSP00000378557:I161S	ENSP00000247170:I161S	I	+	2	0	DAAM1	58859404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATC		0.418	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		99	503	0	0	0	1	0	99	503					G	59789651	T	G	59789651	3	3	80	1	0	0	0	0	1	0	0	0	4226	1435	50	4	500	4	DAAM1	14	59789651	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	6679326	59789651	47559889	95	32071											
PCNX	22990	broad.mit.edu	37	chr14	71444749	71444749	+	Frame_Shift_Del	DEL	A	A	-													tcaggcaggagacgcacaggAaaaaaacgggctagcagttt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:71444749delA	ENST00000304743.2	+	6	2141	c.1695delA	c.(1693-1695)ggafs	p.G565fs	PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	565						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)		GACGCACAGGAAAAAAACGGG	0.473																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1693-1695)ggfs		pecanex homolog (Drosophila)							102	102	102					14																	71444749		2203	4300	6503	SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71444749delA	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.1695delA	14.37:g.71444749delA	ENSP00000304192:p.Gly565fs					PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs|PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs	p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2141	+			565					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Del	DEL	ENST00000304743.2	37	c.1695delA	CCDS9806.1																																																																																				0.473	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	797						7	797	---	---	---	---	-	71444749	A	-	71444749	7	5	80	1	0	1	0	1	0	0	0	0	11633	233	9	0	1717	0	PCNX	14	71444749	Frame_Shift_Del	DEL	A	TCGA-IB-7652-01A-11D-2154-08	11655098	71444749	35904791	96	32072											
AK7	122481	broad.mit.edu	37	chr14	96864443	96864443	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtagttggggcttcgcTtgaagaaattacagaggaag	14	5	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr14:96864443T>G	ENST00000267584.4	+	2	181	c.137T>G	c.(136-138)cTt>cGt	p.L46R	AK7_ENST00000555570.1_Missense_Mutation_p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	46					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)		GGGGCTTCGCTTGAAGAAATT	0.418																																						ENST00000267584.4																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(136-138)cTt>cGt		adenylate kinase 7							99	100	100					14																	96864443		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96864443T>G	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.137T>G	14.37:g.96864443T>G	ENSP00000267584:p.Leu46Arg					AK7_ENST00000555570.1_Missense_Mutation_p.L46R	p.L46R	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	2	181	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	46					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.137T>G	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934844	0.52866	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.59906	0.23	5.35	5.35	0.76521	.	0.410741	0.24182	N	0.040799	T	0.72771	0.3502	L	0.60455	1.87	0.54753	D	0.99998	B;D	0.89917	0.206;1.0	B;D	0.91635	0.043;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.42	14.9864	0.71351	0.0:0.0:0.0:1.0	.	46;46	Q96M32;G3V365	KAD7_HUMAN;.	R	46	ENSP00000267584:L46R	ENSP00000267584:L46R	L	+	2	0	AK7	95934196	0.996000	0.38824	0.290000	0.24890	0.970000	0.65996	5.104000	0.64584	2.044000	0.60594	0.402000	0.26972	CTT		0.418	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			78	485	0	0	0	1	0	78	485					G	96864443	T	G	96864443	3	3	80	1	0	0	0	0	1	0	0	0	444	1609	56	4	143	4	AK7	14	96864443	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	25419694	96864443	10485097	97	32073											
SPINT1	6692	broad.mit.edu	37	chr15	41149075	41149077	+	In_Frame_Del	DEL	CAC	CAC	-													agagaaaggacttccacggaCaccaccaccacccaccaccc							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:41149075_41149077delCAC	ENST00000344051.4	+	11	1726_1728	c.1492_1494delCAC	c.(1492-1494)cacdel	p.H501del	SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	501					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)		CTTCCACGGACACCACCACCACC	0.586																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1492-1494)del		serine peptidase inhibitor, Kunitz type 1																																				SO:0001651	inframe_deletion	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41149075_41149077delCAC		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.1492_1494delCAC	15.37:g.41149084_41149086delCAC	ENSP00000342098:p.His501del					SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del|SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del	p.H501del			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	11	1726_1728	+		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)	501					Q7Z7D2	In_Frame_Del	DEL	ENST00000344051.4	37	c.1492_1494delCAC	CCDS10067.1																																																																																				0.586	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		7	1313						7	1313	---	---	---	---	-	41149077	CAC	-	41149075	7	5	80	1	0	1	0	1	0	0	0	0	15120	478	17	0	1530	0	SPINT1	15	41149075	In_Frame_Del	DEL	CAC	TCGA-IB-7652-01A-11D-2154-08		41149075	61382317	98	32074											
HOMER2	9455	broad.mit.edu	37	chr15	83527855	83527855	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccggcgtgagaggcCttttcatcgtccgtcccgtt	13	13	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:83527855C>A	ENST00000304231.8	-	5	645	c.453G>T	c.(451-453)aaG>aaT	p.K151N	HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N|HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	151					behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				cervix(1)|endometrium(2)|lung(6)	9						CGTGAGAGGCCTTTTCATCGT	0.498																																						ENST00000304231.8																			0				cervix(1)|endometrium(2)|lung(6)	9						c.(451-453)aaG>aaT		homer homolog 2 (Drosophila)							159	163	162					15																	83527855		2007	4158	6165	SO:0001583	missense	0				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83527855C>A	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.453G>T	15.37:g.83527855C>A	ENSP00000305632:p.Lys151Asn					HOMER2_ENST00000450735.2_Missense_Mutation_p.K140N|HOMER2_ENST00000399166.2_Missense_Mutation_p.K140N|HOMER2_ENST00000426485.1_Missense_Mutation_p.K151N	p.K151N	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN			5	645	-			151					O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Missense_Mutation	SNP	ENST00000304231.8	37	c.453G>T	CCDS45334.1	.	.	.	.	.	.	.	.	.	.	c	19.00	3.741498	0.69304	.	.	ENSG00000103942	ENST00000304231;ENST00000450735;ENST00000426485;ENST00000399166	T;T;T;T	0.79454	2.15;-1.27;2.42;2.43	5.39	3.46	0.39613	.	0.094216	0.64402	D	0.000001	T	0.77883	0.4197	L	0.60455	1.87	0.39080	D	0.960886	B;D;D;P	0.57899	0.338;0.981;0.96;0.893	B;P;P;P	0.53360	0.187;0.724;0.711;0.486	T	0.75777	-0.3198	10	0.25106	T	0.35	.	9.2512	0.37555	0.0:0.7746:0.0:0.2254	.	140;151;140;151	F8W826;E9PAZ1;Q9NSB8-2;Q9NSB8	.;.;.;HOME2_HUMAN	N	151;140;151;140	ENSP00000305632:K151N;ENSP00000407634:K140N;ENSP00000394293:K151N;ENSP00000382119:K140N	ENSP00000305632:K151N	K	-	3	2	HOMER2	81324909	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.921000	0.40035	1.478000	0.48253	0.651000	0.88453	AAG		0.498	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			134	713	1	0	3.45176e-74	1	4.0609e-74	134	713					A	83527855	C	A	83527855	3	1	80	1	0	0	0	0	1	0	0	0	7309	680	24	3	631	3	HOMER2	15	83527855	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	42378780	83527855	19003537	99	32075											
AGBL1	123624	broad.mit.edu	37	chr15	86838550	86838550	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacttccggcaagatgttcTctgccagacgctgggaggga	13	11	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:86838550T>C	ENST00000441037.2	+	16	2242	c.2147T>C	c.(2146-2148)cTc>cCc	p.L716P	AGBL1-AS1_ENST00000566878.1_RNA|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	716					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						CAAGATGTTCTCTGCCAGACG	0.483																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2146-2148)cTc>cCc		ATP/GTP binding protein-like 1							84	83	83					15																	86838550		1968	4159	6127	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838550T>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2147T>C	15.37:g.86838550T>C	ENSP00000413001:p.Leu716Pro					AGBL1_ENST00000421325.2_Missense_Mutation_p.L716P|AGBL1_ENST00000389298.3_Missense_Mutation_p.L447P	p.L716P	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2242	+			716					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.2147T>C	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040625	0.75732	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.13307	2.6;2.6	5.42	5.42	0.78866	Peptidase M14, carboxypeptidase A (1);	0.000000	0.64402	D	0.000003	T	0.50701	0.1631	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.66500	-0.5908	10	0.87932	D	0	-23.9349	13.6996	0.62599	0.0:0.0:0.0:1.0	.	415;447;716	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	P	745;716;447	ENSP00000397173:L716P;ENSP00000373949:L447P	ENSP00000373949:L447P	L	+	2	0	AGBL1	84639554	1.000000	0.71417	0.993000	0.49108	0.773000	0.43773	6.505000	0.73708	2.170000	0.68504	0.528000	0.53228	CTC		0.483	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		10	284	0	0	0	1	0	10	284					C	86838550	T	C	86838550	3	2	80	1	0	0	0	0	1	0	0	0	375	1551	54	4	2205	4	AGBL1	15	86838550	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	3310695	86838550	15692842	100	32076											
LRRK1	79705	broad.mit.edu	37	chr15	101529485	101529485	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgcaatattcctgcttcGgcatggggcctatttctgtt	9	10	1	0	rs368091026		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr15:101529485G>A	ENST00000388948.3	+	6	1003	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	LRRK1_ENST00000284395.5_Missense_Mutation_p.R212Q|LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q	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)			TTCCTGCTTCGGCATGGGGCC	0.483																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(634-636)cGg>cAg		leucine-rich repeat kinase 1		G	GLN/ARG	1,3995		0,1,1997	157	153	154		644	4.4	0.2	15		154	0,8382		0,0,4191	no	missense	LRRK1	NM_024652.3	43	0,1,6188	AA,AG,GG		0.0,0.025,0.0081	benign	215/2016	101529485	1,12377	1998	4191	6189	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101529485G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.644G>A	15.37:g.101529485G>A	ENSP00000373600:p.Arg215Gln					LRRK1_ENST00000532029.2_Missense_Mutation_p.R215Q|LRRK1_ENST00000388948.3_Missense_Mutation_p.R215Q	p.R212Q			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		7	1035	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		215						Missense_Mutation	SNP	ENST00000388948.3	37	c.635G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200254	0.38905	2.5E-4	0.0	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000532029	T;T;T	0.70164	-0.46;-0.06;-0.46	5.27	4.36	0.52297	Ankyrin repeat-containing domain (3);	0.357809	0.27245	N	0.020253	T	0.43590	0.1254	N	0.11560	0.145	0.27090	N	0.962887	B;B	0.23891	0.0;0.093	B;B	0.17098	0.001;0.017	T	0.27468	-1.0073	10	0.26408	T	0.33	.	9.4521	0.38731	0.1609:0.0:0.8391:0.0	.	215;215	Q38SD2;Q38SD2-2	LRRK1_HUMAN;.	Q	215;212;215	ENSP00000373600:R215Q;ENSP00000284395:R212Q;ENSP00000433268:R215Q	ENSP00000284395:R212Q	R	+	2	0	LRRK1	99347008	0.896000	0.30565	0.239000	0.24122	0.988000	0.76386	3.161000	0.50747	1.362000	0.46000	0.650000	0.86243	CGG		0.483	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		98	554	0	0	0	1	0	98	554					A	101529485	G	A	101529485	3	1	80	1	0	0	0	0	1	0	0	0	9070	1116	39	1	662	1	LRRK1	15	101529485	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	14690935	101529485	1001907	101	32077											
E4F1	1877	broad.mit.edu	37	chr16	2284179	2284196	+	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	GCCGTTCGCCTGCGCGCA	-													tgtgtggctgcagggccgagGccgttcgcctgcgcgcagtg					rs137969975|rs552965184|rs113270919	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	ENST00000301727.4	+	10	1431_1448	c.1383_1400delGCCGTTCGCCTGCGCGCA	c.(1381-1401)aggccgttcgcctgcgcgcag>agg	p.PFACAQ462del	E4F1_ENST00000564139.1_In_Frame_Del_p.PFACAQ462del|DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000382437.4_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	462	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CAGGGCCGAGGCCGTTCGCCTGCGCGCAGTGTGGCAAG	0.693																																						ENST00000301727.4																			0				ovary(1)	1						c.(1381-1401)agg>ag		E4F transcription factor 1																																				SO:0001651	inframe_deletion	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284179_2284196delGCCGTTCGCCTGCGCGCA	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"Zinc fingers, C2H2-type"	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1383_1400delGCCGTTCGCCTGCGCGCA	16.37:g.2284179_2284196delGCCGTTCGCCTGCGCGCA	ENSP00000301727:p.Pro462_Gln467del					E4F1_ENST00000564139.1_In_Frame_Del_p.RPFACAQ461del|E4F1_ENST00000565090.1_Intron	p.RPFACAQ461del	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			10	1431_1448	+			461			Interaction with BMI1.|Mediates interaction with CDKN2A.		A8K2R4|O00146	In_Frame_Del	DEL	ENST00000301727.4	37	c.1383_1400delGCCGTTCGCCTGCGCGCA	CCDS32370.1																																																																																				0.693	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		16	119						16	119	---	---	---	---	-	2284196	GCCGTTCGCCTGCGCGCA	-	2284179	7	5	80	1	0	1	0	1	0	0	0	0	4890	1194	42	0	1421	0	E4F1	16	2284179	In_Frame_Del	DEL	GCCGTTCGCCTGCGCGCA	TCGA-IB-7652-01A-11D-2154-08		2284179	88070574	102	32078											
CACNG3	10368	broad.mit.edu	37	chr16	24372859	24372859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaaaaacatcagcagttacGagccaaatcccactcggagt	8	11	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr16:24372859G>A	ENST00000005284.3	+	4	1825	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	208					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAGCAGTTACGAGCCAAATCC	0.488																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(622-624)cGa>cAa		calcium channel, voltage-dependent, gamma subunit 3							121	113	116					16																	24372859		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372859G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.623G>A	16.37:g.24372859G>A	ENSP00000005284:p.Arg208Gln						p.R208Q	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1825	+			208						Missense_Mutation	SNP	ENST00000005284.3	37	c.623G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189450	0.94923	.	.	ENSG00000006116	ENST00000005284	T	0.81163	-1.46	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87820	0.2637	10	0.32370	T	0.25	-7.4112	17.8423	0.88718	0.0:0.0:1.0:0.0	.	208	O60359	CCG3_HUMAN	Q	208	ENSP00000005284:R208Q	ENSP00000005284:R208Q	R	+	2	0	CACNG3	24280360	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	9.476000	0.97823	2.274000	0.75844	0.655000	0.94253	CGA		0.488	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		68	609	0	0	0	1	0	68	609					A	24372859	G	A	24372859	3	1	80	1	0	0	0	0	1	0	0	0	2565	1058	37	1	637	1	CACNG3	16	24372859	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	22088680	24372859	65981894	103	32079											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		51	162	0	0	0	1	0	51	162					T	7578406	C	T	7578406	3	4	80	1	0	0	0	0	1	0	0	0	16434	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		7578406	73616804	104	32080											
TRIM16	10626	broad.mit.edu	37	chr17	15532400	15532400	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgcaggaacctgctgggGaggtccgggtagggatgctc	18	9	0	0	rs148258149	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:15532400G>A	ENST00000578237.1	-	11	2079	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	TRIM16_ENST00000577886.1_Silent_p.L192L|TRIM16_ENST00000579219.1_Missense_Mutation_p.S105F|TRIM16_ENST00000416464.2_Silent_p.L278L|TRIM16_ENST00000336708.7_Silent_p.L408L|RP11-385D13.1_ENST00000455584.2_Silent_p.L408L			O95361	TRI16_HUMAN	tripartite motif containing 16	408	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		ACCTGCTGGGGAGGTCCGGGT	0.602													G|||	10	0.00199681	0.0	0.0014	5008	,	,		19644	0.0		0.008	False		,,,				2504	0.001					ENST00000579219.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(313-315)tCc>tTc		tripartite motif containing 16		G		2,4402		0,2,2200	27	27	27		1224	-1.4	0.9	17	dbSNP_134	27	69,8485		0,69,4208	no	coding-synonymous	TRIM16	NM_006470.3		0,71,6408	AA,AG,GG		0.8066,0.0454,0.5479		408/565	15532400	71,12887	2202	4277	6479	SO:0001819	synonymous_variant	10626							g.chr17:15532400G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1224C>T	17.37:g.15532400G>A						TRIM16_ENST00000336708.7_Silent_p.L408L|TRIM16_ENST00000578237.1_Silent_p.L408L|RP11-385D13.1_ENST00000455584.2_Silent_p.L408L|TRIM16_ENST00000577886.1_Silent_p.L192L|TRIM16_ENST00000416464.2_Silent_p.L278L	p.S105F						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	3	560	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.314C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	9.322	1.058293	0.19987	4.54E-4	0.008066	ENSG00000251537	ENST00000455584	T	0.12465	2.68	4.53	-1.42	0.08913	.	.	.	.	.	T	0.10078	0.0247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18241	-1.0343	5	.	.	.	.	7.5572	0.27831	0.1608:0.3793:0.4599:0.0	.	.	.	.	F	423	ENSP00000402644:S423F	.	S	-	2	0	RP11-385D13.1	15473125	0.997000	0.39634	0.938000	0.37757	0.918000	0.54935	0.347000	0.20014	-0.128000	0.11641	-0.903000	0.02851	TCC		0.602	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		5	151	0	0	0	1	0	5	151					A	15532400	G	A	15532400	2	1	80	1	0	0	0	0	0	0	0	1	16544	1161	41	2		2	TRIM16	17	15532400	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	7953994	15532400	65662810	105	32081											
RAI1	10743	broad.mit.edu	37	chr17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-													gaacctggtcttgcggagccGcagcagcagcagcagcaacg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				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)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	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.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		8	258						8	258	---	---	---	---	-	17699995	GCA	-	17699993	7	5	80	1	0	1	0	1	0	0	0	0	13057	1087	38	0	3733	0	RAI1	17	17699993	In_Frame_Del	DEL	GCA	TCGA-IB-7652-01A-11D-2154-08	2167593	17699993	63495217	106	32082											
DNAH17	8632	broad.mit.edu	37	chr17	76459132	76459132	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcacgtaggacatgaAgaagctgatggaggccttga	16	6	0	4			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76459132A>G	ENST00000585328.1	-	57	9077	c.8953T>C	c.(8953-8955)Ttc>Ctc	p.F2985L	DNAH17_ENST00000389840.5_Missense_Mutation_p.F2976L|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2976	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)			TAGGACATGAAGAAGCTGATG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8926-8928)Ttc>Ctc		dynein, axonemal, heavy chain 17							131	100	111					17																	76459132		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76459132A>G	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.8953T>C	17.37:g.76459132A>G	ENSP00000465516:p.Phe2985Leu					DNAH17_ENST00000585328.1_Missense_Mutation_p.F2985L|DNAH17_ENST00000586052.1_5'UTR	p.F2976L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9050	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8926T>C		.	.	.	.	.	.	.	.	.	.	A	25.9	4.688192	0.88639	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.54071	0.59	4.91	4.91	0.64330	.	.	.	.	.	T	0.64283	0.2584	M	0.64676	1.99	0.47862	D	0.999534	.	.	.	.	.	.	T	0.67917	-0.5546	7	0.66056	D	0.02	.	14.2019	0.65710	1.0:0.0:0.0:0.0	.	.	.	.	L	2985;2976	ENSP00000374490:F2976L	ENSP00000300671:F2985L	F	-	1	0	DNAH17	73970727	1.000000	0.71417	0.940000	0.37924	0.747000	0.42532	8.838000	0.92115	1.847000	0.53656	0.454000	0.30748	TTC		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		46	133	0	0	0	1	0	46	133					G	76459132	A	G	76459132	3	3	80	1	0	0	0	0	1	0	0	0	4617	72	3	4	4520	4	DNAH17	17	76459132	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08	58759139	76459132	4736078	107	32083											
DNAH17	8632	broad.mit.edu	37	chr17	76571032	76571032	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctgtgaacagggccacGttctcctcggcgcctatcag	10	14	3	1	rs190167225	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr17:76571032G>A	ENST00000585328.1	-	2	232	c.108C>T	c.(106-108)aaC>aaT	p.N36N	DNAH17_ENST00000389840.5_Silent_p.N36N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	36	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGGCCACGTTCTCCTCGG	0.587													G|||	3	0.000599042	0.0	0.0014	5008	,	,		17375	0.0		0.002	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(106-108)aaC>aaT		dynein, axonemal, heavy chain 17		G		0,4168		0,0,2084	57	61	59		108	2.6	0.8	17		59	2,8426		0,2,4212	no	coding-synonymous	DNAH17	NM_173628.3		0,2,6296	AA,AG,GG		0.0237,0.0,0.0159		36/4463	76571032	2,12594	2084	4214	6298	SO:0001819	synonymous_variant	8632							g.chr17:76571032G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.108C>T	17.37:g.76571032G>A						DNAH17_ENST00000585328.1_Silent_p.N36N	p.N36N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	232	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.108C>T																																																																																					0.587	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		10	137	0	0	0	1	0	10	137					A	76571032	G	A	76571032	2	1	80	1	0	0	0	0	0	0	0	1	4617	1136	40	1		1	DNAH17	17	76571032	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08	111900	76571032	4624178	108	32084											
ZNF521	25925	broad.mit.edu	37	chr18	22805592	22805592	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atggagctgcaagtcagtttCgttgcggaagtcccagttgc	13	9	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:22805592C>T	ENST00000361524.3	-	4	2438	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	764					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)					AAGTCAGTTTCGTTGCGGAAG	0.473			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2290-2292)Gaa>Aaa		zinc finger protein 521							97	85	89					18																	22805592		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805592C>T	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.2290G>A	18.37:g.22805592C>T	ENSP00000354794:p.Glu764Lys					ZNF521_ENST00000584787.1_Missense_Mutation_p.E544K|ZNF521_ENST00000538137.2_Missense_Mutation_p.E764K	p.E764K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2438	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		764					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2290G>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334661	0.24253	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08370	3.1;3.13	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.04116	-0.275	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.41752	-0.9491	10	0.07482	T	0.82	-36.5484	20.8794	0.99867	0.0:1.0:0.0:0.0	.	764	Q96K83	ZN521_HUMAN	K	764;798;764	ENSP00000354794:E764K;ENSP00000382352:E764K	ENSP00000354794:E764K	E	-	1	0	ZNF521	21059590	1.000000	0.71417	0.973000	0.42090	0.406000	0.30931	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAA		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		28	260	0	0	0	1	0	28	260					T	22805592	C	T	22805592	3	4	80	1	0	0	0	0	1	0	0	0	18018	893	31	1	1665	1	ZNF521	18	22805592	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		22805592	55271656	109	32085											
GALR1	2587	broad.mit.edu	37	chr18	74962928	74962928	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccatcgtgcactcgcggCgctcctcctccctcagggtg	12	17	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr18:74962928C>T	ENST00000299727.3	+	1	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GCACTCGCGGCGCTCCTCCTC	0.657																																						ENST00000299727.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(424-426)Cgc>Tgc		galanin receptor 1							61	52	55					18																	74962928		2203	4299	6502	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74962928C>T	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.424C>T	18.37:g.74962928C>T	ENSP00000299727:p.Arg142Cys						p.R142C	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	1	424	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	142					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.424C>T	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897440	0.52121	.	.	ENSG00000166573	ENST00000299727	T	0.43294	0.95	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.053378	0.64402	D	0.000001	T	0.60919	0.2306	M	0.79805	2.47	0.58432	D	0.999997	D	0.65815	0.995	P	0.60345	0.873	T	0.67213	-0.5727	10	0.87932	D	0	.	11.9672	0.53042	0.1737:0.8263:0.0:0.0	.	142	P47211	GALR1_HUMAN	C	142	ENSP00000299727:R142C	ENSP00000299727:R142C	R	+	1	0	GALR1	73091916	0.998000	0.40836	1.000000	0.80357	0.380000	0.30137	3.631000	0.54280	2.044000	0.60594	0.591000	0.81541	CGC		0.657	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			54	210	0	0	0	1	0	54	210					T	74962928	C	T	74962928	3	4	80	1	0	0	0	0	1	0	0	0	6255	768	27	1	426	1	GALR1	18	74962928	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	52157336	74962928	3114320	110	32086											
SEMA6B	10501	broad.mit.edu	37	chr19	4555520	4555520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggcgtgcttggggtcGtacgggcagcgggccatacc	16	11	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:4555520G>A	ENST00000586582.1	-	7	838	c.528C>T	c.(526-528)taC>taT	p.Y176Y	SEMA6B_ENST00000586965.1_Silent_p.Y176Y|SEMA6B_ENST00000301293.3_Silent_p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	176	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)		GCTTGGGGTCGTACGGGCAGC	0.602																																						ENST00000586582.1																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(526-528)taC>taT		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							112	101	105					19																	4555520		2203	4300	6503	SO:0001819	synonymous_variant	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4555520G>A	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.528C>T	19.37:g.4555520G>A						SEMA6B_ENST00000301293.3_Silent_p.Y176Y|SEMA6B_ENST00000586965.1_Silent_p.Y176Y	p.Y176Y	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	838	-		Hepatocellular(1079;0.137)	176			Sema.		A5PKU4|F6IB19|Q9NRK9	Silent	SNP	ENST00000586582.1	37	c.528C>T	CCDS12131.1																																																																																				0.602	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		39	177	0	0	0	1	0	39	177					A	4555520	G	A	4555520	2	1	80	1	0	0	0	0	0	0	0	1	14090	1140	40	1		1	SEMA6B	19	4555520	Silent	SNP	G	TCGA-IB-7652-01A-11D-2154-08		4555520	54573463	111	32087											
COL5A3	50509	broad.mit.edu	37	chr19	10081324	10081324	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccggggggcccgggggcgcCgggctccccagaagctccag	19	16	0	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:10081324C>T	ENST00000264828.3	-	54	3995	c.3910G>A	c.(3910-3912)Ggc>Agc	p.G1304S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1304	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ccgggggcgccgggcTCCCCA	0.607																																						ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(3910-3912)Ggc>Agc		collagen, type V, alpha 3							8	9	8					19																	10081324		2154	4209	6363	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10081324C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3910G>A	19.37:g.10081324C>T	ENSP00000264828:p.Gly1304Ser						p.G1304S	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		54	3995	-			1304			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3910G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.851005	0.32699	.	.	ENSG00000080573	ENST00000264828	D	0.99607	-6.27	3.28	3.28	0.37604	.	0.000000	0.64402	U	0.000001	D	0.99651	0.9871	H	0.94658	3.565	0.51482	D	0.999926	D	0.89917	1.0	D	0.85130	0.997	D	0.97697	1.0182	10	0.87932	D	0	.	10.3456	0.43903	0.0:1.0:0.0:0.0	.	1304	P25940	CO5A3_HUMAN	S	1304	ENSP00000264828:G1304S	ENSP00000264828:G1304S	G	-	1	0	COL5A3	9942324	0.354000	0.24912	0.334000	0.25495	0.015000	0.08874	2.226000	0.42963	2.126000	0.65437	0.486000	0.48141	GGC		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		5	26	0	0	0	1	0	5	26					T	10081324	C	T	10081324	3	4	80	1	0	0	0	0	1	0	0	0	3707	652	23	1	1383	1	COL5A3	19	10081324	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5525804	10081324	49047659	112	32088											
CACNA1A	773	broad.mit.edu	37	chr19	13409765	13409765	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactcgcggccgtagggtccCtcccggctcagctcggcctc	13	18	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:13409765C>A	ENST00000360228.5	-	19	2681	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	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	895					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)	CGTAGGGTCCCTCCCGGCTCA	0.771																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2680-2682)gaG>gaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						6	7	7					19																	13409765		1767	3894	5661	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13409765C>A	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.2682G>T	19.37:g.13409765C>A	ENSP00000353362:p.Glu894Asp					CACNA1A_ENST00000573710.2_Missense_Mutation_p.E895D	p.E894D	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		19	2681	-			895					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2682G>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944677	0.18356	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95918	-3.85	4.22	1.84	0.25277	.	4.895700	0.00541	N	0.000225	D	0.94948	0.8366	L	0.34521	1.04	0.20703	N	0.999864	B;P;D	0.58268	0.0;0.729;0.982	B;B;D	0.67548	0.001;0.21;0.952	D	0.86068	0.1536	10	0.21540	T	0.41	.	2.0266	0.03520	0.2518:0.3677:0.0:0.3805	.	895;898;894	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	D	894;898;895;895	ENSP00000353362:E894D	ENSP00000317661:E895D	E	-	3	2	CACNA1A	13270765	0.044000	0.20184	0.901000	0.35422	0.017000	0.09413	-0.312000	0.08113	0.768000	0.33290	-0.481000	0.04817	GAG		0.771	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		13	47	1	0	4.36969e-10	1	4.77562e-10	13	47					A	13409765	C	A	13409765	3	1	80	1	0	0	0	0	1	0	0	0	2545	680	24	3	5056	3	CACNA1A	19	13409765	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3328441	13409765	45719218	113	32089											
CAPN12	147968	broad.mit.edu	37	chr19	39221822	39221822	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacggctatcccggtagcGgctggtgagggtctgggtca	17	10	2	2	rs143345899	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39221822G>A	ENST00000328867.4	-	19	2307	c.1999C>T	c.(1999-2001)Cgc>Tgc	p.R667C	ACTN4_ENST00000252699.2_3'UTR|CAPN12_ENST00000601953.1_Missense_Mutation_p.R518C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	667	Domain IV.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TCCCGGTAGCGGCTGGTGAGG	0.627													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		15396	0.001		0.001	False		,,,				2504	0.0					ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1999-2001)Cgc>Tgc		calpain 12		G	CYS/ARG	0,4404		0,0,2202	63	46	52		1999	2.6	1	19	dbSNP_134	52	20,8580	14.6+/-50.1	0,20,4280	yes	missense	CAPN12	NM_144691.3	180	0,20,6482	AA,AG,GG		0.2326,0.0,0.1538	probably-damaging	667/720	39221822	20,12984	2202	4300	6502	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39221822G>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1999C>T	19.37:g.39221822G>A	ENSP00000331636:p.Arg667Cys					ACTN4_ENST00000252699.2_3'UTR|CAPN12_ENST00000601953.1_Missense_Mutation_p.R518C	p.R667C	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		19	2307	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		667			Domain IV.			Missense_Mutation	SNP	ENST00000328867.4	37	c.1999C>T	CCDS12519.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	19.64	3.865729	0.71949	0.0	0.002326	ENSG00000182472	ENST00000328867	T	0.32023	1.47	4.74	2.59	0.31030	EF-hand-like domain (1);	0.063724	0.64402	D	0.000018	T	0.56337	0.1978	M	0.89534	3.04	0.49130	D	0.999751	D	0.89917	1.0	D	0.70935	0.971	T	0.58831	-0.7567	10	0.87932	D	0	.	7.6395	0.28286	0.1953:0.0:0.8047:0.0	.	667	Q6ZSI9	CAN12_HUMAN	C	667	ENSP00000331636:R667C	ENSP00000331636:R667C	R	-	1	0	CAPN12	43913662	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.567000	0.45956	0.617000	0.30160	0.491000	0.48974	CGC		0.627	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			4	162	0	0	0	1	0	4	162					A	39221822	G	A	39221822	3	1	80	1	0	0	0	0	1	0	0	0	2632	1116	39	1	172	1	CAPN12	19	39221822	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	25812057	39221822	19907161	114	32090											
TIMM50	92609	broad.mit.edu	37	chr19	39980444	39980444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagccgcttgtggcctcGctccaaacagccctgaactc	8	18	0	1	rs202166024	byFrequency	TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:39980444G>A	ENST00000607714.1	+	11	1068	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H	TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H|TIMM50_ENST00000314349.4_Missense_Mutation_p.R452H			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	349					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)	p.R452H(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTGTGGCCTCGCTCCAAACAG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		16295	0.0		0.002	False		,,,				2504	0.0					ENST00000314349.4																			1	Substitution - Missense(1)	p.R452H(1)	large_intestine(1)	NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(1354-1356)cGc>cAc		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)							52	46	48					19																	39980444		2203	4300	6503	SO:0001583	missense	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39980444G>A	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.1046G>A	19.37:g.39980444G>A	ENSP00000475531:p.Arg349His					TIMM50_ENST00000607714.1_Missense_Mutation_p.R349H|TIMM50_ENST00000599794.1_Missense_Mutation_p.R153H|TIMM50_ENST00000544017.1_Missense_Mutation_p.R236H	p.R452H	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	1488	+	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)		349					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.1355G>A		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	18.56	3.650107	0.67472	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.61	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.47716	1.5	0.53688	D	0.999977	D;D	0.71674	0.996;0.998	P;D	0.63703	0.512;0.917	T	0.65138	-0.6241	8	.	.	.	-17.7449	13.3117	0.60384	0.0775:0.0:0.9225:0.0	.	349;452	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	H	452;236	.	.	R	+	2	0	TIMM50	44672284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.227000	0.72282	1.360000	0.45960	0.655000	0.94253	CGC		0.617	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		3	43	0	0	0	1	0	3	43					A	39980444	G	A	39980444	3	1	80	1	0	0	0	0	1	0	0	0	15965	1087	38	1	1397	1	TIMM50	19	39980444	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	758622	39980444	19148539	115	32091											
TMEM145	284339	broad.mit.edu	37	chr19	42818632	42818632	+	Frame_Shift_Del	DEL	T	T	-													tgtcagaacatcctcctctaTtttgatgacccatcccagtg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr19:42818632delT	ENST00000301204.3	+	3	266	c.225delT	c.(223-225)tatfs	p.Y75fs	TMEM145_ENST00000601020.1_3'UTR|TMEM145_ENST00000598766.1_Frame_Shift_Del_p.Y85fs	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	75					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TCCTCCTCTATTTTGATGACC	0.602																																						ENST00000598766.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(253-255)tafs		transmembrane protein 145							157	149	152					19																	42818632		2203	4300	6503	SO:0001589	frameshift_variant	284339					integral to membrane		g.chr19:42818632delT	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.225delT	19.37:g.42818632delT	ENSP00000301204:p.Tyr75fs					TMEM145_ENST00000301204.3_Frame_Shift_Del_p.Y75fs|TMEM145_ENST00000601020.1_3'UTR	p.Y85fs			Q8NBT3	TM145_HUMAN			3	255	+		Prostate(69;0.00682)	75						Frame_Shift_Del	DEL	ENST00000301204.3	37	c.255delT	CCDS12603.1																																																																																				0.602	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		7	1155						7	1155	---	---	---	---	-	42818632	T	-	42818632	7	5	80	1	0	1	0	1	0	0	0	0	16111	1500	52	0	235	0	TMEM145	19	42818632	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	2838188	42818632	16310351	116	32092											
RASSF2	9770	broad.mit.edu	37	chr20	4770321	4770339	+	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TAGGCTGGTGTGAACACGG	-													ggacgttggtgacagagccaTaggctggtgtgaacacggat					rs188515817|rs375756047|rs372791134		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	ENST00000379400.3	-	8	737_755	c.542_560delCCGTGTTCACACCAGCCTA	c.(541-561)tccgtgttcacaccagcctatfs	p.SVFTPAY181fs	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	181	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GACAGAGCCATAGGCTGGTGTGAACACGGATGTCTGTCA	0.539																																					Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(541-561)ttfs		Ras association (RalGDS/AF-6) domain family member 2																																				SO:0001589	frameshift_variant	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4770321_4770339delTAGGCTGGTGTGAACACGG	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.542_560delCCGTGTTCACACCAGCCTA	20.37:g.4770321_4770339delTAGGCTGGTGTGAACACGG	ENSP00000368710:p.Ser181fs					RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Frame_Shift_Del_p.SVFTPAY181fs	p.SVFTPAY181fs	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			8	737_755	-			181			Ras-associating.		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Frame_Shift_Del	DEL	ENST00000379400.3	37	c.542_560delCCGTGTTCACACCAGCCTA	CCDS13083.1																																																																																				0.539	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		17	240						17	240	---	---	---	---	-	4770339	TAGGCTGGTGTGAACACGG	-	4770321	7	5	80	1	0	1	0	1	0	0	0	0	13136	1406	49	0	440	0	RASSF2	20	4770321	Frame_Shift_Del	DEL	TAGGCTGGTGTGAACACGG	TCGA-IB-7652-01A-11D-2154-08		4770321	58255199	117	32093											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				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						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		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.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			9	535						9	535	---	---	---	---	-	25657232	TG	-	25657231	7	5	80	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-IB-7652-01A-11D-2154-08	20886910	25657231	37368289	118	32094											
HCK	3055	broad.mit.edu	37	chr20	30662501	30662501	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaagcaactatgtcgcccgCgttgactctctggagacaga	10	13	1	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr20:30662501C>T	ENST00000520553.1	+	5	588	c.342C>T	c.(340-342)cgC>cgT	p.R114R	HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000534862.1_Silent_p.R115R	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	135	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	ATGTCGCCCGCGTTGACTCTC	0.552																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(343-345)cgC>cgT		hemopoietic cell kinase							100	96	98					20																	30662501		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30662501C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.342C>T	20.37:g.30662501C>T						HCK_ENST00000375862.2_Silent_p.R134R|HCK_ENST00000375852.2_Silent_p.R135R|HCK_ENST00000518730.1_Silent_p.R113R|HCK_ENST00000538448.1_Silent_p.R114R|HCK_ENST00000520553.1_Silent_p.R114R	p.R115R	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		6	708	+			135			SH3.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.345C>T	CCDS54455.1																																																																																				0.552	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			98	487	0	0	0	1	0	98	487					T	30662501	C	T	30662501	2	4	80	1	0	0	0	0	0	0	0	1	7024	755	27	1		1	HCK	20	30662501	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	5005270	30662501	32363019	119	32095											
CCT8L2	150160	broad.mit.edu	37	chr22	17073061	17073061	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cccggagctgcgggcgaggcAggccagccttcagcagctgc	16	15	1	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:17073061A>T	ENST00000359963.3	-	1	639	c.380T>A	c.(379-381)cTg>cAg	p.L127Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	127					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)				CGGGCGAGGCAGGCCAGCCTT	0.642																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(379-381)cTg>cAg		chaperonin containing TCP1, subunit 8 (theta)-like 2							47	40	42					22																	17073061		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073061A>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.380T>A	22.37:g.17073061A>T	ENSP00000353048:p.Leu127Gln						p.L127Q	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	639	-	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)	127					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.380T>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	a	11.60	1.688445	0.29962	.	.	ENSG00000198445	ENST00000359963	T	0.80909	-1.43	2.0	2.0	0.26442	.	0.000000	0.29073	U	0.013223	D	0.86969	0.6061	M	0.80982	2.52	0.34168	D	0.669424	D	0.89917	1.0	D	0.83275	0.996	D	0.87908	0.2695	10	0.87932	D	0	-12.4381	5.9541	0.19263	1.0:0.0:0.0:0.0	.	127	Q96SF2	TCPQM_HUMAN	Q	127	ENSP00000353048:L127Q	ENSP00000353048:L127Q	L	-	2	0	CCT8L2	15453061	1.000000	0.71417	0.739000	0.30968	0.152000	0.21847	3.227000	0.51262	0.930000	0.37217	0.324000	0.21423	CTG		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			39	160	0	0	0	1	0	39	160					T	17073061	A	T	17073061	3	4	80	1	0	0	0	0	1	0	0	0	2970	188	7	5	1297	5	CCT8L2	22	17073061	Missense_Mutation	SNP	A	TCGA-IB-7652-01A-11D-2154-08		17073061	34231505	120	32096											
CECR2	27443	broad.mit.edu	37	chr22	18003349	18003349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgtctgtcgaccagccGtcctgtagccagagccaact	10	14	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:18003349G>A	ENST00000262608.8	+	8	1037	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	CECR2_ENST00000400585.2_Intron|CECR2_ENST00000400573.5_Intron|CECR2_ENST00000342247.5_Missense_Mutation_p.R317H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	387					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)		TCGACCAGCCGTCCTGTAGCC	0.448																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(1036-1038)cGt>cAt		cat eye syndrome chromosome region, candidate 2							53	61	58					22																	18003349		2143	4241	6384	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18003349G>A	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	ENST00000262608.8:c.1037G>A	22.37:g.18003349G>A	ENSP00000262608:p.Arg346His					CECR2_ENST00000342247.5_Missense_Mutation_p.R317H|CECR2_ENST00000400573.4_Intron|CECR2_ENST00000400585.2_Intron	p.R346H	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	8	1037	+		all_epithelial(15;0.139)	387					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000262608.8	37	c.1037G>A		.	.	.	.	.	.	.	.	.	.	G	4.349	0.064200	0.08388	.	.	ENSG00000099954	ENST00000342247;ENST00000262608	T;T	0.25414	2.08;1.8	3.24	-6.48	0.01896	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26643	-1.0097	8	.	.	.	.	2.4034	0.04407	0.5132:0.1197:0.1998:0.1673	.	387;359	Q9BXF3;Q9BXF3-2	CECR2_HUMAN;.	H	317;346	ENSP00000341219:R317H;ENSP00000262608:R346H	.	R	+	2	0	CECR2	16383349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.710000	0.00387	-2.277000	0.00677	-2.302000	0.00260	CGT		0.448	CECR2-201	KNOWN	basic	protein_coding	protein_coding		NM_031413		6	42	0	0	0	1	0	6	42					A	18003349	G	A	18003349	3	1	80	1	0	0	0	0	1	0	0	0	3215	1145	40	1	1066	1	CECR2	22	18003349	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	930288	18003349	33301217	121	32097											
NF2	4771	broad.mit.edu	37	chr22	30050682	30050682	+	Frame_Shift_Del	DEL	T	T	-													ccagtgttcacaagcggggaTttttggcccaagaggaattg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:30050682delT	ENST00000338641.4	+	5	925	c.484delT	c.(484-486)tttfs	p.F162fs	NF2_ENST00000347330.5_Intron|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	162	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)		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						CAAGCGGGGATTTTTGGCCCA	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"D, Mis, N, F, S, O"	neurofibromatosis type 2 gene			O		"meningioma, acoustic neuroma"	"meningioma, acoustic neuroma, renal "		3	Unknown(3)	p.?(3)	large_intestine(1)|stomach(1)|central_nervous_system(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						c.(484-486)ttfs		neurofibromin 2 (merlin)							143	145	144					22																	30050682		2203	4300	6503	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30050682delT	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.484delT	22.37:g.30050682delT	ENSP00000344666:p.Phe162fs					NF2_ENST00000347330.5_Intron|NF2_ENST00000361676.4_Frame_Shift_Del_p.F120fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.F162fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.F79fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.F162fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.F162fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.F121fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.F79fs	p.F162fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			5	925	+			162			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.484delT	CCDS13861.1																																																																																				0.423	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		8	976						8	976	---	---	---	---	-	30050682	T	-	30050682	7	5	80	1	0	1	0	1	0	0	0	0	10399	1493	52	0	502	0	NF2	22	30050682	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	12047333	30050682	21253884	122	32098											
APOL5	80831	broad.mit.edu	37	chr22	36124922	36124922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagaaaggggagacagGccccgggaagacaccgacaa	14	11	0	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chr22:36124922G>A	ENST00000249044.2	+	4	1279	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	427					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						GGGGAGACAGGCCCCGGGAAG	0.612																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(1279-1281)Gcc>Acc		apolipoprotein L, 5							68	62	64					22																	36124922		2203	4300	6503	SO:0001583	missense	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36124922G>A	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"Apolipoproteins"	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.1279G>A	22.37:g.36124922G>A	ENSP00000249044:p.Ala427Thr						p.A427T	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			4	1279	+			427					Q5TFL9|Q9UGW5	Missense_Mutation	SNP	ENST00000249044.2	37	c.1279G>A	CCDS13920.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555711	0.65425	.	.	ENSG00000128313	ENST00000249044	T	0.05139	3.49	2.28	1.18	0.20946	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.08055	0.003	T	0.42155	-0.9468	9	0.87932	D	0	.	2.8292	0.05495	0.5743:0.0:0.4257:0.0	.	427	Q9BWW9	APOL5_HUMAN	T	427	ENSP00000249044:A427T	ENSP00000249044:A427T	A	+	1	0	APOL5	34454868	0.002000	0.14202	0.057000	0.19452	0.873000	0.50193	1.096000	0.30976	0.380000	0.24823	0.430000	0.28490	GCC		0.612	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		7	290	0	0	0	1	0	7	290					A	36124922	G	A	36124922	3	1	80	1	0	0	0	0	1	0	0	0	809	1203	42	2	1293	2	APOL5	22	36124922	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	6074240	36124922	15179644	123	32099											
ASB9	140462	broad.mit.edu	37	chrX	15266898	15266898	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaagagctgggccaaggggCtctctggaggcaccagctcc	15	12	1	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266898C>T	ENST00000380488.4	-	6	1001	c.728G>A	c.(727-729)aGc>aAc	p.S243N	ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.S243N	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	243	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				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)					GGCCAAGGGGCTCTCTGGAGG	0.557																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(727-729)aGc>aAc		ankyrin repeat and SOCS box containing 9							76	71	73					X																	15266898		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15266898C>T	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"Ankyrin repeat domain containing"	17184	protein-coding gene	gene with protein product		300890	"ankyrin repeat and SOCS box-containing 9"			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.728G>A	X.37:g.15266898C>T	ENSP00000369855:p.Ser243Asn					ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.S233N|ASB9_ENST00000380488.4_Missense_Mutation_p.S243N|ASB9_ENST00000380485.3_Missense_Mutation_p.S243N	p.S243N	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			7	1211	-	Hepatocellular(33;0.183)		243			SOCS box.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.728G>A	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	6.967	0.548435	0.13312	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.65732	0.99;-0.17;-0.12;-0.17	5.78	1.15	0.20763	.	0.332697	0.42682	N	0.000673	T	0.47967	0.1474	L	0.39467	1.215	0.09310	N	1	B;B;B;B	0.24576	0.035;0.003;0.051;0.106	B;B;B;B	0.28139	0.019;0.005;0.086;0.063	T	0.35649	-0.9780	10	0.40728	T	0.16	-4.9969	6.2251	0.20703	0.0:0.6104:0.1283:0.2613	.	214;233;243;243	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	N	233;243;243;243	ENSP00000369850:S233N;ENSP00000369852:S243N;ENSP00000369855:S243N;ENSP00000438943:S243N	ENSP00000369850:S233N	S	-	2	0	ASB9	15176819	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.883000	0.28200	-0.105000	0.12132	-0.191000	0.12829	AGC		0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			77	421	0	0	0	1	0	77	421					T	15266898	C	T	15266898	3	4	80	1	0	0	0	0	1	0	0	0	1031	797	28	2	193	2	ASB9	23	15266898	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08		15266898	140003662	124	32100											
ASB9	140462	broad.mit.edu	37	chrX	15266926	15266926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcaccagctccacaggacGtttgccttcagcattcttgg	10	13	2	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:15266926G>A	ENST00000380488.4	-	6	973	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C	ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_Missense_Mutation_p.R234C	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	234					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)					TCCACAGGACGTTTGCCTTCA	0.557																																						ENST00000546332.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15						c.(700-702)Cgt>Tgt		ankyrin repeat and SOCS box containing 9							89	77	81					X																	15266926		2203	4300	6503	SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15266926G>A	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.700C>T	X.37:g.15266926G>A	ENSP00000369855:p.Arg234Cys					ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.R224C|ASB9_ENST00000380488.4_Missense_Mutation_p.R234C|ASB9_ENST00000380485.3_Missense_Mutation_p.R234C	p.R234C	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN			7	1183	-	Hepatocellular(33;0.183)		234					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.700C>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580533	0.28180	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.92	4.17	0.49024	Ankyrin repeat-containing domain (3);	0.273432	0.42420	N	0.000717	T	0.41328	0.1154	L	0.54965	1.715	0.49483	D	0.999798	B;B;B;B	0.29188	0.236;0.05;0.03;0.157	B;B;B;B	0.29598	0.104;0.019;0.012;0.026	T	0.29941	-0.9995	10	0.62326	D	0.03	-10.1573	7.8005	0.29172	0.1464:0.0:0.7222:0.1313	.	205;224;234;234	Q7Z4A2;Q9BVF5;Q96DX5;Q96DX5-2	.;.;ASB9_HUMAN;.	C	224;234;234;234	ENSP00000369850:R224C;ENSP00000369852:R234C;ENSP00000369855:R234C;ENSP00000438943:R234C	ENSP00000369850:R224C	R	-	1	0	ASB9	15176847	0.993000	0.37304	0.143000	0.22291	0.565000	0.35776	1.270000	0.33086	0.638000	0.30545	-0.208000	0.12717	CGT		0.557	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			75	394	0	0	0	1	0	75	394					A	15266926	G	A	15266926	3	1	80	1	0	0	0	0	1	0	0	0	1031	1145	40	1	221	1	ASB9	23	15266926	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	28	15266926	140003634	125	32101											
PPEF1	5475	broad.mit.edu	37	chrX	18845404	18845404	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcttttaggcctgatctcCgtggaagaatttcgtgccat	9	9	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:18845404C>T	ENST00000361511.4	+	19	2255	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S|PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	587	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)					GCCTGATCTCCGTGGAAGAAT	0.418																																						ENST00000361511.4																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1759-1761)tcC>tcT		protein phosphatase, EF-hand calcium binding domain 1							80	75	77					X																	18845404		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18845404C>T	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.1761C>T	X.37:g.18845404C>T						PPEF1_ENST00000349874.5_Silent_p.S525S|PPEF1_ENST00000544635.1_Silent_p.S522S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Silent_p.S534S	p.S587S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN			19	2255	+	Hepatocellular(33;0.183)		587			EF-hand 2.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1761C>T	CCDS14188.1																																																																																				0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		108	439	0	0	0	1	0	108	439					T	18845404	C	T	18845404	2	4	80	1	0	0	0	0	0	0	0	1	12349	639	23	1		1	PPEF1	23	18845404	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3578478	18845404	136425156	126	32102											
CXorf21	80231	broad.mit.edu	37	chrX	30578132	30578132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaatacttttgcaagaagatGgaaccaagtaggtctctctg	9	7	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:30578132G>T	ENST00000378962.3	-	3	663	c.341C>A	c.(340-342)cCa>cAa	p.P114Q		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	114										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCAAGAAGATGGAACCAAGTA	0.443																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(340-342)cCa>cAa		chromosome X open reading frame 21							97	98	98					X																	30578132		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30578132G>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.341C>A	X.37:g.30578132G>T	ENSP00000368245:p.Pro114Gln						p.P114Q	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	663	-			114						Missense_Mutation	SNP	ENST00000378962.3	37	c.341C>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515532	0.64634	.	.	ENSG00000120280	ENST00000378962	.	.	.	4.94	4.05	0.47172	.	0.000000	0.64402	D	0.000005	T	0.75221	0.3820	M	0.66939	2.045	0.52501	D	0.999955	D	0.89917	1.0	D	0.81914	0.995	T	0.76934	-0.2775	9	0.54805	T	0.06	-14.154	12.9145	0.58199	0.0824:0.0:0.9176:0.0	.	114	Q9HAI6	CX021_HUMAN	Q	114	.	ENSP00000368245:P114Q	P	-	2	0	CXorf21	30488053	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.264000	0.78432	2.279000	0.76181	0.422000	0.28245	CCA		0.443	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		155	713	1	0	1.56038e-73	1	1.825e-73	155	713					T	30578132	G	T	30578132	3	4	80	1	0	0	0	0	1	0	0	0	4112	1348	47	3	568	3	CXorf21	23	30578132	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	11732728	30578132	124692428	127	32103											
DMD	1756	broad.mit.edu	37	chrX	31198512	31198512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatattccaccatgggaTagtgcattttatggcctttt	8	8	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:31198512T>A	ENST00000357033.4	-	69	10267	c.10061A>T	c.(10060-10062)tAt>tTt	p.Y3354F	DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F	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	3354	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)				CACCATGGGATAGTGCATTTT	0.418																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(10060-10062)tAt>tTt		dystrophin							128	109	115					X																	31198512		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31198512T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10061A>T	X.37:g.31198512T>A	ENSP00000354923:p.Tyr3354Phe					DMD_ENST00000343523.2_Missense_Mutation_p.Y894F|DMD_ENST00000361471.4_Missense_Mutation_p.Y286F|DMD_ENST00000541735.1_Missense_Mutation_p.Y894F|DMD_ENST00000378702.4_Missense_Mutation_p.Y286F|DMD_ENST00000378680.2_Missense_Mutation_p.Y286F|DMD_ENST00000378707.3_Missense_Mutation_p.Y894F|DMD_ENST00000378723.3_Missense_Mutation_p.Y286F|DMD_ENST00000378677.2_Missense_Mutation_p.Y3350F|DMD_ENST00000359836.1_Missense_Mutation_p.Y894F|DMD_ENST00000474231.1_Missense_Mutation_p.Y894F	p.Y3354F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			69	10267	-		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)	3354			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10061A>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417414	0.83449	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.03	3.8	0.43715	Zinc finger, ZZ-type (1);	0.000000	0.32372	U	0.006187	D	0.92590	0.7646	M	0.83953	2.67	0.58432	D	0.999999	B;D;D;B;D;D;D;D;D;D;D;D;D;D;P;D	0.89917	0.002;0.957;0.997;0.06;0.997;0.997;0.995;0.996;0.996;0.999;0.999;1.0;0.974;0.985;0.743;0.997	B;P;D;B;D;D;D;D;D;D;D;D;D;P;P;D	0.80764	0.003;0.754;0.97;0.018;0.97;0.97;0.962;0.917;0.917;0.986;0.994;0.986;0.969;0.871;0.493;0.97	D	0.92983	0.6408	10	0.87932	D	0	.	10.1983	0.43067	0.1502:0.0:0.0:0.8498	.	286;3346;3354;3350;2013;2010;894;894;894;894;894;3231;286;286;286;286	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	F	3346;2013;2010;286;1050;3350;3354;894;894;3354;3231;894;894;286;894;286;286;144	ENSP00000367997:Y286F;ENSP00000350765:Y1050F;ENSP00000367948:Y3350F;ENSP00000354923:Y3354F;ENSP00000352894:Y894F;ENSP00000340057:Y894F;ENSP00000367979:Y894F;ENSP00000444119:Y894F;ENSP00000367974:Y286F;ENSP00000417123:Y894F;ENSP00000354464:Y286F;ENSP00000367951:Y286F;ENSP00000367977:Y144F	ENSP00000340057:Y894F	Y	-	2	0	DMD	31108433	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.825000	0.86693	1.868000	0.54150	0.441000	0.28932	TAT		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	409	0	0	0	1	0	16	409					A	31198512	T	A	31198512	3	1	80	1	0	0	0	0	1	0	0	0	4596	1406	49	5	1130	5	DMD	23	31198512	Missense_Mutation	SNP	T	TCGA-IB-7652-01A-11D-2154-08	620380	31198512	124072048	128	32104											
CXorf22	170063	broad.mit.edu	37	chrX	35989882	35989882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcaggaggaagagtctgtgaGaagaaaggcacgtgcaatgt	15	5	2	3			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:35989882G>A	ENST00000297866.5	+	12	2216	c.2150G>A	c.(2149-2151)aGa>aAa	p.R717K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	717										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						GAGTCTGTGAGAAGAAAGGCA	0.368																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(2149-2151)aGa>aAa		chromosome X open reading frame 22							54	49	51					X																	35989882		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989882G>A	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.2150G>A	X.37:g.35989882G>A	ENSP00000297866:p.Arg717Lys						p.R717K	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			12	2216	+			717					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2150G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.793016	0.00623	.	.	ENSG00000165164	ENST00000297866	T	0.13307	2.6	5.6	-7.87	0.01183	.	1.479880	0.03603	N	0.233690	T	0.05547	0.0146	N	0.05124	-0.11	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43081	-0.9413	10	0.06365	T	0.9	-14.1458	12.5433	0.56184	0.7855:0.1024:0.1122:0.0	.	717	Q6ZTR5	CX022_HUMAN	K	717	ENSP00000297866:R717K	ENSP00000297866:R717K	R	+	2	0	CXorf22	35899803	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.217000	0.02979	-1.390000	0.02087	-0.190000	0.12839	AGA		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		70	331	0	0	0	1	0	70	331					A	35989882	G	A	35989882	3	1	80	1	0	0	0	0	1	0	0	0	4113	942	33	2	2196	2	CXorf22	23	35989882	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	4791370	35989882	119280678	129	32105											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		9	135						9	135	---	---	---	---	-	47030563	GGA	-	47030561	7	5	80	1	0	1	0	1	0	0	0	0	13161	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-IB-7652-01A-11D-2154-08	11040679	47030561	108239999	130	32106											
GAGE10	643832	broad.mit.edu	37	chrX	49173752	49173752	+	Frame_Shift_Del	DEL	A	A	-													tgccaaatccagaggaggtgAaaaggcctgaagaaggtagg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:49173752delA	ENST00000407599.3	+	4	406	c.313delA	c.(313-315)aaafs	p.K105fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	105										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AGAGGAGGTGAAAAGGCCTGA	0.468																																						ENST00000407599.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(313-315)aafs		G antigen 10							158	160	159					X																	49173752		2203	4300	6503	SO:0001589	frameshift_variant	643832							g.chrX:49173752delA			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.313delA	X.37:g.49173752delA	ENSP00000385415:p.Lys105fs						p.K105fs	NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN			4	406	+	Ovarian(276;0.236)		105						Frame_Shift_Del	DEL	ENST00000407599.3	37	c.313delA	CCDS43938.1																																																																																				0.468	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		7	1395						7	1395	---	---	---	---	-	49173752	A	-	49173752	7	5	80	1	0	1	0	1	0	0	0	0	6214	247	9	0	323	0	GAGE10	23	49173752	Frame_Shift_Del	DEL	A	TCGA-IB-7652-01A-11D-2154-08	2143191	49173752	106096808	131	32107											
HEPH	9843	broad.mit.edu	37	chrX	65409671	65409671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgactacccgtggacaCcacactgatgtggctaacat	9	12	0	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:65409671C>T	ENST00000343002.2	+	5	1618	c.954C>T	c.(952-954)caC>caT	p.H318H	HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000519389.1_Silent_p.H372H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H			Q9BQS7	HEPH_HUMAN	hephaestin	318	Plastocyanin-like 2.				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						CCCGTGGACACCACACTGATG	0.507																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1114-1116)caC>caT		hephaestin							132	91	105					X																	65409671		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65409671C>T	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.954C>T	X.37:g.65409671C>T						HEPH_ENST00000343002.2_Silent_p.H318H|HEPH_ENST00000374727.3_Silent_p.H321H|HEPH_ENST00000336279.5_Silent_p.H51H|HEPH_ENST00000419594.1_Silent_p.H321H|HEPH_ENST00000441993.2_Silent_p.H321H	p.H372H			Q9BQS7	HEPH_HUMAN			6	1295	+			318					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.1116C>T																																																																																					0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		45	189	0	0	0	1	0	45	189					T	65409671	C	T	65409671	2	4	80	1	0	0	0	0	0	0	0	1	7084	506	18	2		2	HEPH	23	65409671	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	16235919	65409671	89860889	132	32108											
PCDH11X	27328	broad.mit.edu	37	chrX	91090988	91090988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctaaatatactctcccagCggctgttgatcctgacgtag	8	12	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:91090988C>T	ENST00000373094.1	+	1	1330	c.485C>T	c.(484-486)gCg>gTg	p.A162V	PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTCTCCCAGCGGCTGTTGAT	0.343																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(484-486)gCg>gTg		protocadherin 11 X-linked							36	37	37					X																	91090988		2200	4298	6498	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090988C>T	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.485C>T	X.37:g.91090988C>T	ENSP00000362186:p.Ala162Val					PCDH11X_ENST00000406881.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A162V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A162V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A162V	p.A162V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1330	+			162			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.485C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575181	0.28092	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	4.44	3.54	0.40534	Cadherin (4);Cadherin-like (1);	0.138116	0.49916	D	0.000122	T	0.29190	0.0726	N	0.11651	0.15	0.35926	D	0.832189	B;B;P;P;P;P;B;B	0.37101	0.083;0.191;0.526;0.526;0.526;0.582;0.047;0.047	B;B;B;B;B;B;B;B	0.31442	0.018;0.036;0.08;0.08;0.08;0.13;0.019;0.019	T	0.31503	-0.9941	10	0.25106	T	0.35	.	12.5927	0.56451	0.0:0.836:0.164:0.0	.	162;162;162;162;162;162;162;162	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	162	ENSP00000378746:A162V;ENSP00000362186:A162V;ENSP00000362189:A162V;ENSP00000355040:A162V;ENSP00000362180:A162V;ENSP00000423762:A162V;ENSP00000355105:A162V;ENSP00000384758:A162V;ENSP00000298274:A162V	ENSP00000298274:A162V	A	+	2	0	PCDH11X	90977644	0.999000	0.42202	0.953000	0.39169	0.537000	0.34900	4.217000	0.58547	0.938000	0.37419	0.506000	0.49869	GCG		0.343	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		67	422	0	0	0	1	0	67	422					T	91090988	C	T	91090988	3	4	80	1	0	0	0	0	1	0	0	0	11550	768	27	1	487	1	PCDH11X	23	91090988	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	25681317	91090988	64179572	133	32109											
TCEAL5	340543	broad.mit.edu	37	chrX	102529240	102529240	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctggcttgccctcactttgTggcttgtcctcaccttcaga	9	14	3	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:102529240T>A	ENST00000372680.1	-	3	546	c.252A>T	c.(250-252)ccA>ccT	p.P84P		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	84					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CCTCACTTTGTGGCTTGTCCT	0.587																																						ENST00000372680.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(250-252)ccA>ccT		transcription elongation factor A (SII)-like 5							144	117	126					X																	102529240		2203	4300	6503	SO:0001819	synonymous_variant	340543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chrX:102529240T>A		CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.252A>T	X.37:g.102529240T>A							p.P84P	NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN			3	546	-			84					A2RUJ4	Silent	SNP	ENST00000372680.1	37	c.252A>T	CCDS35356.1																																																																																				0.587	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057696.1	XM_291334		143	707	0	0	0	1	0	143	707					A	102529240	T	A	102529240	2	1	80	1	0	0	0	0	0	0	0	1	15726	1683	59	5		5	TCEAL5	23	102529240	Silent	SNP	T	TCGA-IB-7652-01A-11D-2154-08	11438252	102529240	52741320	134	32110											
COL4A6	1288	broad.mit.edu	37	chrX	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-													ccaggtggaccaggatggccTttttcaccaggaagtccagg							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:107430450delT	ENST00000372216.4	-	23	1930	c.1830delA	c.(1828-1830)aaafs	p.K610fs	COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000394872.2_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	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						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(1828-1830)aafs		collagen, type IV, alpha 6							127	118	121					X																	107430450		2203	4300	6503	SO:0001589	frameshift_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107430450delT	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.1830delA	X.37:g.107430450delT	ENSP00000361290:p.Lys610fs					COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs	p.K610fs			Q14031	CO4A6_HUMAN			23	2061	-			610			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Frame_Shift_Del	DEL	ENST00000372216.4	37	c.1830delA	CCDS14541.1																																																																																				0.512	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			8	1176						8	1176	---	---	---	---	-	107430450	T	-	107430450	7	5	80	1	0	1	0	1	0	0	0	0	3704	1606	56	0	3337	0	COL4A6	23	107430450	Frame_Shift_Del	DEL	T	TCGA-IB-7652-01A-11D-2154-08	4901210	107430450	47840110	135	32111											
DOCK11	139818	broad.mit.edu	37	chrX	117742086	117742096	+	Frame_Shift_Del	DEL	TCTAAGATCAT	TCTAAGATCAT	-													gaagaaggcttggatagttaTctaagatcattcataaaggt							TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:117742086_117742096delTCTAAGATCAT	ENST00000276202.7	+	25	2796_2806	c.2733_2743delTCTAAGATCAT	c.(2731-2745)tatctaagatcattcfs	p.LRSF912fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.LRSF912fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	912					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						TGGATAGTTATCTAAGATCATTCATAAAGGT	0.313																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2731-2745)tatcfs		dedicator of cytokinesis 11																																				SO:0001589	frameshift_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117742086_117742096delTCTAAGATCAT	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.2733_2743delTCTAAGATCAT	X.37:g.117742086_117742096delTCTAAGATCAT	ENSP00000276202:p.Leu912fs					DOCK11_ENST00000276202.7_Frame_Shift_Del_p.YLRSF911fs	p.YLRSF911fs			Q5JSL3	DOC11_HUMAN			25	2807_2817	+			911					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	37	c.2733_2743delTCTAAGATCAT	CCDS35373.1																																																																																				0.313	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		82	665						82	665	---	---	---	---	-	117742096	TCTAAGATCAT	-	117742086	7	5	80	1	0	1	0	1	0	0	0	0	4702	1442	50	0	2831	0	DOCK11	23	117742086	Frame_Shift_Del	DEL	TCTAAGATCAT	TCGA-IB-7652-01A-11D-2154-08	10311636	117742086	37528474	136	32112											
IGSF1	3547	broad.mit.edu	37	chrX	130409231	130409231	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccatgggaccaggctGggctaataggctgggtttgg	17	9	0	0			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:130409231G>C	ENST00000361420.3	-	17	3293	c.3214C>G	c.(3214-3216)Cag>Gag	p.Q1072E	IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q1063E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1072	Ig-like C2-type 11.				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)	p.Q1072*(1)		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						GGACCAGGCTGGGCTAATAGG	0.542																																						ENST00000370904.1																			1	Substitution - Nonsense(1)	p.Q1072*(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3187-3189)Cag>Gag		immunoglobulin superfamily, member 1							79	82	81					X																	130409231		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409231G>C	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.3214C>G	X.37:g.130409231G>C	ENSP00000355010:p.Gln1072Glu					IGSF1_ENST00000361420.3_Missense_Mutation_p.Q1072E|IGSF1_ENST00000370903.3_Missense_Mutation_p.Q1077E|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q1063E	p.Q1063E			Q8N6C5	IGSF1_HUMAN			23	4097	-			1072					B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3187C>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474766	0.26511	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	4.83	4.83	0.62350	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.751183	0.12360	N	0.475750	T	0.03651	0.0104	L	0.38953	1.18	0.28842	N	0.89655	B;B;B	0.23650	0.082;0.089;0.079	B;B;B	0.25614	0.036;0.062;0.039	T	0.25293	-1.0136	10	0.29301	T	0.29	.	12.231	0.54488	0.0:0.0:1.0:0.0	.	1063;516;1072	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	1063;1072;1063;1077	ENSP00000359947:Q1063E;ENSP00000355010:Q1072E;ENSP00000359941:Q1063E;ENSP00000359940:Q1077E	ENSP00000355010:Q1072E	Q	-	1	0	IGSF1	130236912	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	1.912000	0.39946	2.376000	0.81061	0.594000	0.82650	CAG		0.542	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			162	945	0	0	0	1	0	162	945					C	130409231	G	C	130409231	3	2	80	1	0	0	0	0	1	0	0	0	7626	1357	47	5	812	5	IGSF1	23	130409231	Missense_Mutation	SNP	G	TCGA-IB-7652-01A-11D-2154-08	12667145	130409231	24861329	137	32113											
IDS	3423	broad.mit.edu	37	chrX	148579704	148579704	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaaaggactggctgaCgttttcatcttttccaacaa	9	8	2	2			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:148579704C>A	ENST00000340855.6	-	5	851	c.642G>T	c.(640-642)acG>acT	p.T214T	IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000422081.2_Silent_p.T3T|IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000370441.4_Silent_p.T214T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	214					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTGGCTGACGTTTTCATCT	0.532																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(640-642)acG>acT		iduronate 2-sulfatase							160	136	144					X																	148579704		2203	4300	6503	SO:0001819	synonymous_variant	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148579704C>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.642G>T	X.37:g.148579704C>A						IDS_ENST00000370443.4_Silent_p.T214T|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000541269.1_Silent_p.T3T|IDS_ENST00000370441.4_Silent_p.T214T	p.T214T	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			5	851	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		214					D3DWT4|Q14604|Q9BRM3	Silent	SNP	ENST00000340855.6	37	c.642G>T	CCDS14685.1																																																																																				0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			23	647	1	0	4.16121e-05	1	4.4034e-05	23	647					A	148579704	C	A	148579704	2	1	80	1	0	0	0	0	0	0	0	1	7533	523	19	3		3	IDS	23	148579704	Silent	SNP	C	TCGA-IB-7652-01A-11D-2154-08	18170473	148579704	6690856	138	32114											
MTM1	4534	broad.mit.edu	37	chrX	149826497	149826497	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agttttggacataaatttgcAtctgtgagtaaacaaagcta	8	5	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:149826497A>C	ENST00000370396.2	+	11	1311	c.1257A>C	c.(1255-1257)gcA>gcC	p.A419A	MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	419	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAATTTGCATCTGTGAGTA	0.318																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1255-1257)gcA>gcC		myotubularin 1							87	79	82					X																	149826497		2203	4300	6503	SO:0001819	synonymous_variant	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149826497A>C	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1257A>C	X.37:g.149826497A>C						MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Silent_p.A304A|MTM1_ENST00000413012.2_Silent_p.A382A|MTM1_ENST00000542741.1_Silent_p.A324A	p.A419A	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			11	1311	+	Acute lymphoblastic leukemia(192;6.56e-05)		419			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Silent	SNP	ENST00000370396.2	37	c.1257A>C	CCDS14694.1																																																																																				0.318	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		50	270	0	0	0	1	0	50	270					C	149826497	A	C	149826497	2	2	80	1	0	0	0	0	0	0	0	1	9978	204	8	4		4	MTM1	23	149826497	Silent	SNP	A	TCGA-IB-7652-01A-11D-2154-08	1246793	149826497	5444063	139	32115											
FLNA	2316	broad.mit.edu	37	chrX	153577233	153577233	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactcagggcaccacaacgCggtaggggctgcctgggatg	16	11	1	1			TCGA-IB-7652-01A-11D-2154-08	TCGA-IB-7652-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ecd22f1b-a14d-4374-a187-e549cce31df3	ac6e1f37-95f0-4fc5-b7be-72c734fc19c9	g.chrX:153577233C>T	ENST00000369850.3	-	48	8164	c.7928G>A	c.(7927-7929)cGc>cAc	p.R2643H	FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H|FLNA_ENST00000422373.1_Missense_Mutation_p.R2635H|FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2643	Self-association site, tail.				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)					CACCACAACGCGGTAGGGGCT	0.687																																						ENST00000422373.1																			0				breast(6)	6						c.(7903-7905)cGc>cAc		filamin A, alpha							60	65	64					X																	153577233		2061	4161	6222	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153577233C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7928G>A	X.37:g.153577233C>T	ENSP00000358866:p.Arg2643His					FLNA_ENST00000344736.4_Missense_Mutation_p.R2603H|FLNA_ENST00000369856.3_Missense_Mutation_p.R776H|FLNA_ENST00000369850.3_Missense_Mutation_p.R2643H|FLNA_ENST00000360319.4_Missense_Mutation_p.R2635H	p.R2635H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			47	8152	-	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)		2643			Self-association site, tail.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.7904G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570226	0.28003	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	5.74	3.7	0.42460	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.062457	0.64402	D	0.000011	T	0.61022	0.2314	N	0.03948	-0.315	0.35918	D	0.831602	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.15484	0.001;0.001;0.013;0.013	T	0.53809	-0.8386	10	0.17832	T	0.49	.	2.1844	0.03882	0.0:0.3694:0.3076:0.323	.	776;2635;2643;2643	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	H	2635;2311;2635;2643;776;2603	ENSP00000353467:R2635H;ENSP00000416926:R2635H;ENSP00000358866:R2643H;ENSP00000358872:R776H;ENSP00000358863:R2603H	ENSP00000358863:R2603H	R	-	2	0	FLNA	153230427	0.644000	0.27277	0.766000	0.31476	0.858000	0.48976	1.084000	0.30828	1.172000	0.42781	0.529000	0.55759	CGC		0.687	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			12	384	0	0	0	1	0	12	384					T	153577233	C	T	153577233	3	4	80	1	0	0	0	0	1	0	0	0	5958	768	27	1	19	1	FLNA	23	153577233	Missense_Mutation	SNP	C	TCGA-IB-7652-01A-11D-2154-08	3750736	153577233	1693327	140	32116											
RERE	473	broad.mit.edu	37	chr1	8716322	8716327	+	In_Frame_Del	DEL	TCTTTG	TCTTTG	-													ggtctcggtcccggtccttcTctttgtctttgtctttgtct					rs3831914	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:8716322_8716327delTCTTTG	ENST00000337907.3	-	3	664_669	c.30_35delCAAAGA	c.(28-36)gacaaagag>gag	p.DK10del	RERE_ENST00000400908.2_In_Frame_Del_p.DK10del|RERE_ENST00000400907.2_In_Frame_Del_p.DK10del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	10					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)		ccggtccttctctttgtctttgtctt	0.539														115	0.0229633	0.0045	0.0432	5008	,	,		8417	0.0536		0.0159	False		,,,				2504	0.0092					ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(28-36)gag>ga		arginine-glutamic acid dipeptide (RE) repeats			,	18,4248		0,18,2115					,	4.5	1		dbSNP_107	152	137,8103		1,135,3984	no	coding,coding	RERE	NM_012102.3,NM_001042681.1	,	1,153,6099	A1A1,A1R,RR		1.6626,0.4219,1.2394	,	,		155,12351				SO:0001651	inframe_deletion	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716322_8716327delTCTTTG	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.30_35delCAAAGA	1.37:g.8716328_8716333delTCTTTG	ENSP00000338629:p.Asp10_Lys11del					RERE_ENST00000400908.2_In_Frame_Del_p.DKE10del|RERE_ENST00000400907.2_In_Frame_Del_p.DKE10del	p.DKE10del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	664_669	-	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)	10					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	In_Frame_Del	DEL	ENST00000337907.3	37	c.30_35delCAAAGA	CCDS95.1																																																																																				0.539	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			12	1413						12	1413	---	---	---	---	-	8716327	TCTTTG	-	8716322	7	5	81	1	0	1	0	1	0	0	0	0	13281	1551	54	0	4753	0	RERE	1	8716322	In_Frame_Del	DEL	TCTTTG	TCGA-IB-7885-01A-11D-2154-08		8716322	240534299	1	32117											
MUTYH	4595	broad.mit.edu	37	chr1	45795066	45795066	+	Frame_Shift_Del	DEL	T	T	-													cttgctggcccatgcggggcTttttccgactgcacggagag					rs34961970		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:45795066delT	ENST00000372098.3	-	16	1686	c.1553delA	c.(1552-1554)aagfs	p.K518fs	MUTYH_ENST00000372115.3_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.K494fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.K202fs|MUTYH_ENST00000531105.1_Frame_Shift_Del_p.K53fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.K508fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.K521fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.K188fs			Q9UIF7	MUTYH_HUMAN	mutY homolog	518					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)					CATGCGGGGCTTTTTCCGACT	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(1561-1563)agfs	Base excision repair (BER), DNA glycosylases	mutY homolog							143	156	151					1																	45795066		2203	4300	6503	SO:0001589	frameshift_variant	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45795066delT	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.1553delA	1.37:g.45795066delT	ENSP00000361170:p.Lys518fs					MUTYH_ENST00000488731.2_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.K494fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.K508fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.K518fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.K202fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000531105.1_Frame_Shift_Del_p.K53fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.K504fs	p.K521fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			16	1777	-	Acute lymphoblastic leukemia(166;0.155)		518					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Frame_Shift_Del	DEL	ENST00000372098.3	37	c.1562delA	CCDS520.1																																																																																				0.547	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		7	1140						7	1140	---	---	---	---	-	45795066	T	-	45795066	7	5	81	1	0	1	0	1	0	0	0	0	10034	1609	56	0	91	0	MUTYH	1	45795066	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	37078744	45795066	203455555	2	32118											
OSBPL9	114883	broad.mit.edu	37	chr1	52249642	52249642	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atacaattcaatgctcatatCtggaccaaatcaaaattcct	3	10	4	0	rs61743086	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249642C>G	ENST00000428468.1	+	18	1571	c.1569C>G	c.(1567-1569)atC>atG	p.I523M	OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I541M|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	523					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGCTCATATCTGGACCAAAT	0.368																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1621-1623)atC>atG		oxysterol binding protein-like 9							92	91	92					1																	52249642		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52249642C>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1569C>G	1.37:g.52249642C>G	ENSP00000407168:p.Ile523Met					OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I523M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M	p.I541M	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			18	1805	+			523					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1623C>G	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078450	0.55753	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.93594	3.435	0.58432	D	0.999993	D;D;D;D;D	0.76494	0.996;0.991;0.996;0.993;0.999	D;D;D;D;D	0.78314	0.991;0.952;0.969;0.969;0.984	T	0.76353	-0.2990	10	0.87932	D	0	-10.3454	14.7454	0.69488	0.2284:0.7716:0.0:0.0	.	506;413;539;523;528	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	M	510;541;528;533;358;523;506;442;358;413;345;345	ENSP00000360779:I510M;ENSP00000360775:I541M;ENSP00000337265:I528M;ENSP00000412733:I533M;ENSP00000402646:I358M;ENSP00000407168:I523M;ENSP00000413263:I506M;ENSP00000433675:I442M;ENSP00000433083:I358M;ENSP00000354970:I413M;ENSP00000433279:I345M;ENSP00000431980:I345M	ENSP00000337265:I528M	I	+	3	3	OSBPL9	52022230	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	1.362000	0.46000	0.555000	0.69702	ATC		0.368	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			19	334	0	0	0	1	0	19	334					G	52249642	C	G	52249642	3	3	81	1	0	0	0	0	1	0	0	0	11326	903	32	5	1743	5	OSBPL9	1	52249642	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	6454576	52249642	197000979	3	32119			1	19		3	3	329	C		7.39478e-07
OSBPL9	114883	broad.mit.edu	37	chr1	52249653	52249653	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgctcatatctggaccaaatCaaaattccttgggatgtcaa	7	9	4	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249653C>T	ENST00000428468.1	+	18	1582	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S545L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	527					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGACCAAATCAAAATTCCTT	0.348																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1633-1635)tCa>tTa		oxysterol binding protein-like 9							89	88	89					1																	52249653		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52249653C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1580C>T	1.37:g.52249653C>T	ENSP00000407168:p.Ser527Leu					OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S527L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L	p.S545L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			18	1816	+			527					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1634C>T	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	C	33	5.236229	0.95240	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.997;0.994;0.997;0.999	T	0.64753	-0.6333	10	0.87932	D	0	-18.1822	19.0133	0.92882	0.0:1.0:0.0:0.0	.	510;417;543;527;532	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	514;545;532;537;362;527;510;446;362;417;349;349	ENSP00000360779:S514L;ENSP00000360775:S545L;ENSP00000337265:S532L;ENSP00000412733:S537L;ENSP00000402646:S362L;ENSP00000407168:S527L;ENSP00000413263:S510L;ENSP00000433675:S446L;ENSP00000433083:S362L;ENSP00000354970:S417L;ENSP00000433279:S349L;ENSP00000431980:S349L	ENSP00000337265:S532L	S	+	2	0	OSBPL9	52022241	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.576000	0.82467	2.729000	0.93468	0.555000	0.69702	TCA		0.348	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			16	343	0	0	0	1	0	16	343					T	52249653	C	T	52249653	3	4	81	1	0	0	0	0	1	0	0	0	11326	838	29	2	1754	2	OSBPL9	1	52249653	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	11	52249653	197000968	4	32120			1	19		3	3	329	C		7.39478e-07
OSBPL9	114883	broad.mit.edu	37	chr1	52249970	52249970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctagactatgatgaacattaCattctcacattccccaatgg	5	11	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249970C>T	ENST00000428468.1	+	19	1661	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y|OSBPL9_ENST00000371710.3_Silent_p.Y571Y|OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	553					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGAACATTACATTCTCACAT	0.488																																						ENST00000371710.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						c.(1711-1713)taC>taT		oxysterol binding protein-like 9							217	185	195					1																	52249970		2203	4300	6503	SO:0001819	synonymous_variant	114883				lipid transport		lipid binding	g.chr1:52249970C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1659C>T	1.37:g.52249970C>T						OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000428468.1_Silent_p.Y553Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000462759.1_Silent_p.Y375Y	p.Y571Y	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN			19	1895	+			553					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	37	c.1713C>T	CCDS41332.3																																																																																				0.488	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			47	464	0	0	0	1	0	47	464					T	52249970	C	T	52249970	2	4	81	1	0	0	0	0	0	0	0	1	11326	489	17	2		2	OSBPL9	1	52249970	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	317	52249970	197000651	5	32121			1	19		3	3	329	C		7.39478e-07
GBP2	2634	broad.mit.edu	37	chr1	89587526	89587528	+	In_Frame_Del	DEL	CCA	CCA	-													gcgatagaggcccacaatcgCcaccaccaccacaggctgcg					rs559857919|rs369047974		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:89587526_89587528delCCA	ENST00000370466.3	-	2	390_392	c.122_124delTGG	c.(121-126)gtggcg>gcg	p.V41del	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	41	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCACAATCGCCACCACCACCAC	0.527																																						ENST00000370466.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20						c.(121-126)gcg>g		guanylate binding protein 2, interferon-inducible																																				SO:0001651	inframe_deletion	2634				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89587526_89587528delCCA	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.122_124delTGG	1.37:g.89587535_89587537delCCA	ENSP00000359497:p.Val41del						p.VA41del	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN		all cancers(265;0.0151)|Epithelial(280;0.0284)	2	390_392	-		Lung NSC(277;0.0908)	41					Q6GPH0|Q6IAU2|Q86TB0	In_Frame_Del	DEL	ENST00000370466.3	37	c.122_124delTGG	CCDS719.1																																																																																				0.527	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120		8	572						8	572	---	---	---	---	-	89587528	CCA	-	89587526	7	5	81	1	0	1	0	1	0	0	0	0	6302	739	26	0	1691	0	GBP2	1	89587526	In_Frame_Del	DEL	CCA	TCGA-IB-7885-01A-11D-2154-08	37337556	89587526	159663095	6	32122											
CLCC1	23155	broad.mit.edu	37	chr1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-													cttcagacttgagctgggccTtttccgctgcgggtgaacct					rs150759040		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)aagfs	p.K514fs	CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369976.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597																																						ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1540-1542)agfs		chloride channel CLIC-like 1							144	130	135					1																	109477407		2203	4300	6503	SO:0001589	frameshift_variant	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477407delT	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1541delA	1.37:g.109477407delT	ENSP00000358988:p.Lys514fs					CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs	p.K514fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1670	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	514					O94861|Q8WYP8|Q8WYP9|Q9BU25	Frame_Shift_Del	DEL	ENST00000369971.2	37	c.1541delA	CCDS41362.1																																																																																				0.597	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		7	749						7	749	---	---	---	---	-	109477407	T	-	109477407	7	5	81	1	0	1	0	1	0	0	0	0	3469	1609	56	0	118	0	CLCC1	1	109477407	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	19889881	109477407	139773214	7	32123											
NGF	4803	broad.mit.edu	37	chr1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtctgccccgccacgcGtgcagctatcgccgctgccg	14	18	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					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)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48	48	48					1																	115829233		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829233G>A		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.184C>T	1.37:g.115829233G>A	ENSP00000358525:p.Arg62Cys					RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		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)	3	352	-	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)	62					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.184C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	NGF	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC		0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		19	248	0	0	0	1	0	19	248					A	115829233	G	A	115829233	3	1	81	1	0	0	0	0	1	0	0	0	10437	1145	40	1	545	1	NGF	1	115829233	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	6351826	115829233	133421388	8	32124											
TDRD10	126668	broad.mit.edu	37	chr1	154493902	154493902	+	Frame_Shift_Del	DEL	A	A	-													aactgttcgtgaatacaagcAaaaggccccccaagaggacc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:154493902delA	ENST00000368480.3	+	6	401	c.316delA	c.(316-318)aaafs	p.K106fs	TDRD10_ENST00000368482.4_Frame_Shift_Del_p.K106fs|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	106	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						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)			GAATACAAGCAAAAGGCCCCC	0.517																																						ENST00000368482.4																			0				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						c.(316-318)aafs		tudor domain containing 10							153	164	160					1																	154493902		2203	4300	6503	SO:0001589	frameshift_variant	126668						nucleotide binding|RNA binding	g.chr1:154493902delA	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.316delA	1.37:g.154493902delA	ENSP00000357465:p.Lys106fs					TDRD10_ENST00000368480.3_Frame_Shift_Del_p.K106fs|TDRD10_ENST00000479937.1_3'UTR	p.K106fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	1154	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		106			RRM.		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Frame_Shift_Del	DEL	ENST00000368480.3	37	c.316delA	CCDS41406.1																																																																																				0.517	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		7	1208						7	1208	---	---	---	---	-	154493902	A	-	154493902	7	5	81	1	0	1	0	1	0	0	0	0	15783	131	5	0	334	0	TDRD10	1	154493902	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	38664669	154493902	94756719	9	32125											
ETV3L	440695	broad.mit.edu	37	chr1	157068532	157068532	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgggcaccagcgctggcCgacacagggcaggggccccc	15	18	0	0	rs147712441	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:157068532C>T	ENST00000454449.2	-	3	736	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	151			R -> W (in dbSNP:rs12083811).		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)			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)				CAGCGCTGGCCGACACAGGGC	0.647																																						ENST00000454449.2																			0				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						c.(451-453)cGg>cAg		ets variant 3-like		C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	38	43	41		452	-1	0.5	1	dbSNP_134	41	1,8599		0,1,4299	no	missense	ETV3L	NM_001004341.2	43	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	151/362	157068532	3,13003	2203	4300	6503	SO:0001583	missense	440695					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157068532C>T	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.452G>A	1.37:g.157068532C>T	ENSP00000430271:p.Arg151Gln						p.R151Q	NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN			3	736	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)	151		R -> W (in dbSNP:rs12083811).				Missense_Mutation	SNP	ENST00000454449.2	37	c.452G>A	CCDS30893.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497505	0.04291	4.54E-4	1.16E-4	ENSG00000253831	ENST00000454449	T	0.08193	3.12	4.3	-1.01	0.10169	.	.	.	.	.	T	0.01124	0.0037	N	0.11201	0.11	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.46470	-0.9189	9	0.16896	T	0.51	.	10.2253	0.43222	0.0:0.5723:0.0:0.4277	.	151	Q6ZN32	ETV3L_HUMAN	Q	151	ENSP00000430271:R151Q	ENSP00000430271:R151Q	R	-	2	0	ETV3L	155335156	0.960000	0.32886	0.459000	0.27081	0.103000	0.19146	-1.036000	0.03560	-0.603000	0.05767	-0.797000	0.03246	CGG		0.647	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	NM_001004341		40	393	0	0	0	1	0	40	393					T	157068532	C	T	157068532	3	4	81	1	0	0	0	0	1	0	0	0	5298	652	23	1	645	1	ETV3L	1	157068532	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2574630	157068532	92182089	10	32126											
SPTA1	6708	broad.mit.edu	37	chr1	158596687	158596687	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaaggcataatcgtcTtccaattgcaacttccaagc	6	12	1	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158596687T>G	ENST00000368147.4	-	41	5955	c.5775A>C	c.(5773-5775)gaA>gaC	p.E1925D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1925					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)					CATAATCGTCTTCCAATTGCA	0.453																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5773-5775)gaA>gaC		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							176	172	174					1																	158596687		1869	4111	5980	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596687T>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5775A>C	1.37:g.158596687T>G	ENSP00000357129:p.Glu1925Asp					SPTA1_ENST00000368147.3_Missense_Mutation_p.E1922D|SPTA1_ENST00000461624.1_5'UTR	p.E1925D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			41	5955	-	all_hematologic(112;0.0378)		1925					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5775A>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	1.984	-0.433334	0.04669	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39997	1.05;1.05	5.41	-3.96	0.04106	.	0.513432	0.14584	N	0.310658	T	0.04634	0.0126	N	0.17564	0.495	0.21416	N	0.999695	B	0.06786	0.001	B	0.09377	0.004	T	0.33854	-0.9852	10	0.09338	T	0.73	.	0.247	0.00200	0.2871:0.2601:0.2146:0.2382	.	1925	P02549	SPTA1_HUMAN	D	1925;1922	ENSP00000357130:E1925D;ENSP00000357129:E1922D	ENSP00000357129:E1922D	E	-	3	2	SPTA1	156863311	0.995000	0.38212	0.001000	0.08648	0.340000	0.28889	0.254000	0.18314	-0.327000	0.08551	0.460000	0.39030	GAA		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		47	650	0	0	0	1	0	47	650					G	158596687	T	G	158596687	3	3	81	1	0	0	0	0	1	0	0	0	15168	1606	56	4	1532	4	SPTA1	1	158596687	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	1528155	158596687	90653934	11	32127											
FCER1A	2205	broad.mit.edu	37	chr1	159273851	159273851	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tggttccacaatggcagcctTtcagaagagacaaattcaag	9	9	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:159273851T>A	ENST00000368115.1	+	4	309	c.210T>A	c.(208-210)ctT>ctA	p.L70L	FCER1A_ENST00000368114.1_Silent_p.L37L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	70	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGCAGCCTTTCAGAAGAGA	0.368																																						ENST00000368115.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(208-210)ctT>ctA		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						73	72	72					1																	159273851		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159273851T>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.210T>A	1.37:g.159273851T>A						FCER1A_ENST00000368114.1_Silent_p.L37L	p.L70L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN			4	309	+	all_hematologic(112;0.0429)		70			Ig-like 1.			Silent	SNP	ENST00000368115.1	37	c.210T>A	CCDS1184.1																																																																																				0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		36	342	0	0	0	1	0	36	342					A	159273851	T	A	159273851	2	1	81	1	0	0	0	0	0	0	0	1	5799	1828	64	5		5	FCER1A	1	159273851	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08	677164	159273851	89976770	12	32128											
SEC16B	89866	broad.mit.edu	37	chr1	177934213	177934213	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ctcactatttgttccaaatgGactgtgctggttttcataat	7	8	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:177934213G>C	ENST00000308284.6	-	4	591	c.502C>G	c.(502-504)Cca>Gca	p.P168A	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	168	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTTCCAAATGGACTGTGCTGG	0.448																																						ENST00000308284.6																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						c.(502-504)Cca>Gca		SEC16 homolog B (S. cerevisiae)							117	114	115					1																	177934213		1930	4138	6068	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177934213G>C	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.502C>G	1.37:g.177934213G>C	ENSP00000308339:p.Pro168Ala					RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P168A	p.P168A	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN			4	591	-			168			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.502C>G	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.100919	0.20552	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	2.51;0.92	5.49	-8.05	0.01106	.	1.562370	0.03228	N	0.178526	T	0.26412	0.0645	L	0.50333	1.59	0.09310	N	1	B;B;B	0.25563	0.129;0.055;0.055	B;B;B	0.21151	0.033;0.03;0.03	T	0.16394	-1.0404	10	0.15066	T	0.55	5.5521	1.2287	0.01939	0.4395:0.1985:0.1517:0.2103	.	168;168;168	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	A	168	ENSP00000308339:P168A;ENSP00000431727:P168A	ENSP00000308339:P168A	P	-	1	0	AL359075.1	176200836	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.828000	0.04419	-1.710000	0.01397	-0.909000	0.02823	CCA		0.448	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		6	87	0	0	0	1	0	6	87					C	177934213	G	C	177934213	3	2	81	1	0	0	0	0	1	0	0	0	14037	1174	41	5	2772	5	SEC16B	1	177934213	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	18660362	177934213	71316408	13	32129											
CFH	3075	broad.mit.edu	37	chr1	196646766	196646766	+	Frame_Shift_Del	DEL	T	T	-													atgcattgttcagacgatggTttttggagtaaagagaaacc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:196646766delT	ENST00000367429.4	+	5	828	c.588delT	c.(586-588)ggtfs	p.G196fs	CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Frame_Shift_Del_p.G196fs	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	196	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGACGATGGTTTTTGGAGTA	0.343																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(586-588)ggfs		complement factor H							196	178	184					1																	196646766		2203	4300	6503	SO:0001589	frameshift_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196646766delT	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.588delT	1.37:g.196646766delT	ENSP00000356399:p.Gly196fs					CFH_ENST00000439155.2_Frame_Shift_Del_p.G196fs|CFH_ENST00000359637.2_Intron	p.G196fs	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			5	828	+			196			Sushi 3.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Frame_Shift_Del	DEL	ENST00000367429.4	37	c.588delT	CCDS1385.1																																																																																				0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		7	719						7	719	---	---	---	---	-	196646766	T	-	196646766	7	5	81	1	0	1	0	1	0	0	0	0	3292	1712	60	0	606	0	CFH	1	196646766	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	18712553	196646766	52603855	14	32130											
TPO	7173	broad.mit.edu	37	chr2	1497799	1497799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcagatgaaggctctgcGggacggtgactggtacgttc	16	8	1	3	rs140124953		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:1497799G>A	ENST00000345913.4	+	11	2085	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.R492Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	665			R -> W (in TDH2A; fails to localize to the plasma membrane). {ECO:0000269|PubMed:11916616}.		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)	AAGGCTCTGCGGGACGGTGAC	0.577																																						ENST00000345913.4																			0				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	GRCh37	CM035088	TPO	M	rs140124953	c.(1993-1995)cGg>cAg		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	89	85	86		1994,1994,1823,1823,1994,1475	4.8	1	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	665/934,665/934,608/877,608/877,665/890,492/761	1497799	1,13005	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1497799G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1994G>A	2.37:g.1497799G>A	ENSP00000318820:p.Arg665Gln					TPO_ENST00000382198.1_Missense_Mutation_p.R492Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q	p.R665Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	11	2085	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	665		R -> W (in TDH2A; fails to localize to the plasma membrane).			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1994G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.152346|4.152346	0.78001|0.78001	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.72282	.|-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85643|0.85643	0.5744|0.5744	M|M	0.82716|0.82716	2.605|2.605	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;0.999;1.0	D|D	0.88101|0.88101	0.2819|0.2819	5|10	.|0.87932	.|D	.|0	-34.9581|-34.9581	18.3104|18.3104	0.90197|0.90197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|665;492;608;665	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	R|Q	140|665;665;665;492;665;608;492;594;139	.|ENSP00000337263:R665Q;ENSP00000318820:R665Q;ENSP00000263886:R665Q;ENSP00000332044:R492Q;ENSP00000329869:R665Q;ENSP00000371636:R608Q;ENSP00000371633:R492Q;ENSP00000405788:R594Q;ENSP00000419461:R139Q	.|ENSP00000329869:R665Q	G|R	+|+	1|2	0|0	TPO|TPO	1476806|1476806	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.175000|0.175000	0.22909|0.22909	7.143000|7.143000	0.77348|0.77348	2.399000|2.399000	0.81585|0.81585	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		24	267	0	0	0	1	0	24	267					A	1497799	G	A	1497799	3	1	81	1	0	0	0	0	1	0	0	0	16463	1116	39	1	2032	1	TPO	2	1497799	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		1497799	241701574	15	32131											
GTF2A1L	11036	broad.mit.edu	37	chr2	48873884	48873884	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctggaaatgagcataaaatCgtgcctgaagctttgttgtg	11	7	0	2	rs189414722		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:48873884C>T	ENST00000403751.3	+	6	718	c.681C>T	c.(679-681)atC>atT	p.I227I	GTF2A1L_ENST00000430487.2_Silent_p.I193I|STON1-GTF2A1L_ENST00000394754.1_Silent_p.I931I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|LHCGR_ENST00000420913.3_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	227					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)			AGCATAAAATCGTGCCTGAAG	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20202	0.0		0.0	False		,,,				2504	0.0					ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(2791-2793)atC>atT									120	108	112					2																	48873884		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873884C>T	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.681C>T	2.37:g.48873884C>T						STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|GTF2A1L_ENST00000403751.3_Silent_p.I227I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|GTF2A1L_ENST00000430487.2_Silent_p.I193I	p.I931I	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	2907	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	884					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.2793C>T	CCDS46281.1																																																																																				0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		21	377	0	0	0	1	0	21	377					T	48873884	C	T	48873884	2	4	81	1	0	0	0	0	0	0	0	1	6883	874	31	1		1	GTF2A1L	2	48873884	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	47376085	48873884	194325489	16	32132											
CCDC88A	55704	broad.mit.edu	37	chr2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-													tctgtttgagagcttcataaTtttttttcacctaaaatttt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|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	1003					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						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55	55	55					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	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.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		9	320						9	320	---	---	---	---	-	55549818	T	-	55549818	7	5	81	1	0	1	0	1	0	0	0	0	2870	1493	52	0	2667	0	CCDC88A	2	55549818	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	6675934	55549818	187649555	17	32133											
USP34	9736	broad.mit.edu	37	chr2	61447488	61447488	+	Frame_Shift_Del	DEL	G	G	-													tgagccaaaagaaaccgctcGacccagttttccatattctg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:61447488delG	ENST00000398571.2	-	67	8080	c.8004delC	c.(8002-8004)gtcfs	p.V2668fs	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2668					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)			GAAACCGCTCGACCCAGTTTT	0.378																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8002-8004)gtfs		ubiquitin specific peptidase 34							218	216	217					2																	61447488		1828	4078	5906	SO:0001589	frameshift_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61447488delG	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.8004delC	2.37:g.61447488delG	ENSP00000381577:p.Val2668fs					USP34_ENST00000472689.1_5'UTR	p.V2668fs	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		67	8080	-			2668					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Del	DEL	ENST00000398571.2	37	c.8004delC	CCDS42686.1																																																																																				0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			7	1826						7	1826	---	---	---	---	-	61447488	G	-	61447488	7	5	81	1	0	1	0	1	0	0	0	0	17119	1045	37	0	2692	0	USP34	2	61447488	Frame_Shift_Del	DEL	G	TCGA-IB-7885-01A-11D-2154-08	5897670	61447488	181751885	18	32134											
MOGS	7841	broad.mit.edu	37	chr2	74690035	74690035	+	Frame_Shift_Del	DEL	G	G	-													gcaagccgaggtagcgttcaGggggggcccctgggggccga					rs184209905	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:74690035delG	ENST00000233616.4	-	4	1043	c.881delC	c.(880-882)cctfs	p.P294fs	MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	294					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GTAGCGTTCAGGGGGGGCCCC	0.587																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(880-882)ctfs		mannosyl-oligosaccharide glucosidase							113	121	118					2																	74690035		1954	4148	6102	SO:0001589	frameshift_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690035delG	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.881delC	2.37:g.74690035delG	ENSP00000233616:p.Pro294fs					MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR	p.P294fs	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1043	-			294					A8K938|F5H6D0|Q17RN9|Q8TCT5	Frame_Shift_Del	DEL	ENST00000233616.4	37	c.881delC	CCDS42700.1																																																																																				0.587	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		8	1137						8	1137	---	---	---	---	-	74690035	G	-	74690035	7	5	81	1	0	1	0	1	0	0	0	0	9738	1000	35	0	1636	0	MOGS	2	74690035	Frame_Shift_Del	DEL	G	TCGA-IB-7885-01A-11D-2154-08	13242547	74690035	168509338	19	32135											
SMPD4	55627	broad.mit.edu	37	chr2	130921950	130921950	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaaaactgaaaacataccttGgcatgaggggactgcatttt	9	7	0	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:130921950G>C	ENST00000452225.2	-	4	357	c.119C>G	c.(118-120)cCa>cGa	p.P40R	SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000431183.2_Silent_p.A253A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000443958.2_Silent_p.A19A			Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	0					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)	AACATACCTTGGCATGAGGGG	0.448																																						ENST00000452225.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(118-120)cCa>cGa		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						125	102	110					2																	130921950		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130921950G>C	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	ENST00000452225.2:c.119C>G	2.37:g.130921950G>C	ENSP00000387762:p.Pro40Arg					SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000431183.2_Silent_p.A253A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000443958.2_Silent_p.A19A	p.P40R			Q9NXE4	NSMA3_HUMAN			4	357	-	Colorectal(110;0.1)		0					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000452225.2	37	c.119C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.526|4.526	0.097659|0.097659	0.08681|0.08681	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886;ENST00000452225;ENST00000426662|ENST00000430682	.|.	.|.	.|.	4.17|4.17	3.28|3.28	0.37604|0.37604	.|.	.|.	.|.	.|.	.|.	T|T	0.53932|0.53932	0.1827|0.1827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;P|.	0.41131|.	0.035;0.739|.	B;B|.	0.33121|.	0.017;0.158|.	T|T	0.47156|0.47156	-0.9139|-0.9139	7|4	0.41790|.	T|.	0.15|.	.|.	5.3514|5.3514	0.16038|0.16038	0.1079:0.0:0.6939:0.1982|0.1079:0.0:0.6939:0.1982	.|.	40;40|.	B4E0L6;B4DQ31|.	.;.|.	R|E	155;40;40|116	.|.	ENSP00000397479:P40R|.	P|Q	-|-	2|1	0|0	SMPD4|SMPD4	130638420|130638420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.994000|0.994000	0.29693|0.29693	0.733000|0.733000	0.32492|0.32492	0.557000|0.557000	0.71058|0.71058	CCA|CAA		0.448	SMPD4-205	KNOWN	basic	protein_coding	protein_coding		NM_017751		7	262	0	0	0	1	0	7	262					C	130921950	G	C	130921950	3	2	81	1	0	0	0	0	1	0	0	0	14857	1335	47	5	1666	5	SMPD4	2	130921950	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	56231915	130921950	112277423	20	32136											
ZAK	51776	broad.mit.edu	37	chr2	174097115	174097117	+	In_Frame_Del	DEL	GCT	GCT	-													aacaacattacagggaagcgGctgctgctgctggaggaaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:174097115_174097117delGCT	ENST00000375213.3	+	14	1209_1211	c.1131_1133delGCT	c.(1129-1134)cggctg>cgg	p.L381del	MLTK_ENST00000409176.2_In_Frame_Del_p.L381del|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		381	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)										CAGGGAAGCGGCTGCTGCTGCTG	0.433																																						ENST00000375213.3																			0											c.(1129-1134)cgg>cg																																						SO:0001651	inframe_deletion	0							g.chr2:174097115_174097117delGCT																												ENST00000375213.3:c.1131_1133delGCT	2.37:g.174097124_174097126delGCT	ENSP00000364361:p.Leu381del					MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del	p.RL377del	NM_016653.2	NP_057737.2					14	1209_1211	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	In_Frame_Del	DEL	ENST00000375213.3	37	c.1131_1133delGCT	CCDS42777.1																																																																																				0.433	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			9	1206						9	1206	---	---	---	---	-	174097117	GCT	-	174097115	7	5	81	1	0	1	0	1	0	0	0	0	17566	1190	42	0	1566	0	ZAK	2	174097115	In_Frame_Del	DEL	GCT	TCGA-IB-7885-01A-11D-2154-08	43175165	174097115	69102258	21	32137											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs|ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	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.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		8	509						8	509	---	---	---	---	-	202352352	T	-	202352352	7	5	81	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	28255237	202352352	40847021	22	32138											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-													aaccacctctgaagaagttcAaaaaaaattatatgaagaga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65	72	70					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		7	468						7	468	---	---	---	---	-	204150380	A	-	204150380	7	5	81	1	0	1	0	1	0	0	0	0	4163	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	1798028	204150380	39048993	23	32139											
PARD3B	117583	broad.mit.edu	37	chr2	205829959	205829959	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatcggcagagcccagatGcttttgagacagaagtggcc	13	10	0	5			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:205829959G>A	ENST00000406610.2	+	3	514	c.307G>A	c.(307-309)Gct>Act	p.A103T	PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T	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	103					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)		GAGCCCAGATGCTTTTGAGAC	0.478																																						ENST00000406610.2																			0				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						c.(307-309)Gct>Act		par-3 family cell polarity regulator beta							83	85	85					2																	205829959		1854	4098	5952	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205829959G>A	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.307G>A	2.37:g.205829959G>A	ENSP00000385848:p.Ala103Thr					PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T	p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	3	514	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	103					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.307G>A		.	.	.	.	.	.	.	.	.	.	G	17.38	3.375436	0.61735	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.61	3.73	0.42828	.	0.220595	0.39020	N	0.001496	T	0.29355	0.0731	N	0.14661	0.345	0.26617	N	0.972736	P;P;P;P;P	0.49358	0.814;0.923;0.87;0.716;0.818	P;P;P;B;B	0.46796	0.458;0.527;0.525;0.407;0.167	T	0.08027	-1.0742	10	0.28530	T	0.3	.	11.2408	0.48968	0.0:0.2451:0.5704:0.1845	.	103;103;103;103;103	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	T	103	ENSP00000385848:A103T;ENSP00000351618:A103T;ENSP00000317261:A103T;ENSP00000340280:A103T	ENSP00000340280:A103T	A	+	1	0	PARD3B	205538204	0.558000	0.26554	1.000000	0.80357	0.984000	0.73092	1.066000	0.30604	2.635000	0.89317	0.563000	0.77884	GCT		0.478	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		14	198	0	0	0	1	0	14	198					A	205829959	G	A	205829959	3	1	81	1	0	0	0	0	1	0	0	0	11486	1319	46	2	317	2	PARD3B	2	205829959	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	1679579	205829959	37369414	24	32140											
TGFBR2	7048	broad.mit.edu	37	chr3	30686373	30686373	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	actgcagcatcacctccatcTgtgagaagccacaggaagtc	9	13	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:30686373T>A	ENST00000295754.5	+	2	611	c.229T>A	c.(229-231)Tgt>Agt	p.C77S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	77					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						CACCTCCATCTGTGAGAAGCC	0.408																																						ENST00000295754.5																			0				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						c.(229-231)Tgt>Agt		transforming growth factor, beta receptor II (70/80kDa)							66	60	62					3																	30686373		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30686373T>A		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.229T>A	3.37:g.30686373T>A	ENSP00000295754:p.Cys77Ser					TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	p.C77S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			2	611	+			77					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.229T>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530383	0.85706	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.89123	-2.47;-2.47	5.66	5.66	0.87406	Transforming growth factor beta receptor 2 ectodomain (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	1.0;1.0	D	0.94419	0.7639	10	0.66056	D	0.02	.	14.8777	0.70507	0.0:0.0:0.0:1.0	.	77;102	P37173;D2JYI1	TGFR2_HUMAN;.	S	77;102	ENSP00000295754:C77S;ENSP00000351905:C102S	ENSP00000295754:C77S	C	+	1	0	TGFBR2	30661377	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.321000	0.72881	2.147000	0.66899	0.533000	0.62120	TGT		0.408	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			13	188	0	0	0	1	0	13	188					A	30686373	T	A	30686373	3	1	81	1	0	0	0	0	1	0	0	0	15874	1580	55	5	314	5	TGFBR2	3	30686373	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08		30686373	167336057	25	32141											
VEPH1	79674	broad.mit.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T													atgctttcactttgctgaggINStttttttttaagtgcaagta							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						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)			CTTTGCTGAGGTTTTTTTTTAA	0.396																																						ENST00000362010.2																			0				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						c.(1660-1662)actfs		ventricular zone expressed PH domain-containing 1																																				SO:0001589	frameshift_variant	79674					plasma membrane		g.chr3:157081226_157081227insT	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.1662dupA	3.37:g.157081235_157081235dupT	ENSP00000354919:p.Asn554fs					RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs	p.T554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1968_1969	-			554					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Frame_Shift_Ins	INS	ENST00000362010.2	37	c.1661_1662insA	CCDS3179.1																																																																																				0.396	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		22	970						22	970	---	---	---	---	T	157081227	-	T	157081226	7	5	81	1	0	1	1	0	0	0	0	0	17208	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	126394853	157081226	40941204	26	32142											
LRRC33	375387	broad.mit.edu	37	chr3	196387356	196387358	+	In_Frame_Del	DEL	ACA	ACA	-													gcggaccctcctgctgcgcgAcaacaacatgggcttctacc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:196387356_196387358delACA	ENST00000328557.4	+	3	1045_1047	c.842_844delACA	c.(841-846)gacaac>gac	p.N283del		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	283					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)											CTGCTGCGCGACAACAACATGGG	0.616																																						ENST00000328557.4																			0											c.(841-846)gac>g		negative regulator of reactive oxygen species																																				SO:0001651	inframe_deletion	375387							g.chr3:196387356_196387358delACA	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.842_844delACA	3.37:g.196387362_196387364delACA	ENSP00000328625:p.Asn283del						p.DN281del	NM_198565.1	NP_940967.1					3	1045_1047	+									In_Frame_Del	DEL	ENST00000328557.4	37	c.842_844delACA	CCDS3319.1																																																																																				0.616	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		17	608						17	608	---	---	---	---	-	196387358	ACA	-	196387356	7	5	81	1	0	1	0	1	0	0	0	0	9026	275	10	0	848	0	LRRC33	3	196387356	In_Frame_Del	DEL	ACA	TCGA-IB-7885-01A-11D-2154-08	39306130	196387356	1635074	27	32143											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						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)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	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.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		9	986						9	986	---	---	---	---	-	946207	TG	-	946206	7	5	81	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-IB-7885-01A-11D-2154-08		946206	190208070	28	32144											
SEC31A	22872	broad.mit.edu	37	chr4	83745800	83745800	+	Frame_Shift_Del	DEL	T	T	-													tggaataggtttcttggtaaTtttttttgttggcaaagact							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:83745800delT	ENST00000395310.2	-	25	3501	c.3319delA	c.(3319-3321)attfs	p.I1107fs	SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I1120fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs	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)	1107	Interaction with PDCD6.				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)				TTCTTGGTAATTTTTTTTGTT	0.388																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3358-3360)ttfs		SEC31 homolog A (S. cerevisiae)							147	145	145					4																	83745800		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83745800delT	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.3319delA	4.37:g.83745800delT	ENSP00000378721:p.Ile1107fs					SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs	p.I1120fs			O94979	SC31A_HUMAN			26	3521	-		Hepatocellular(203;0.114)	1107					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.3358delA	CCDS3596.1																																																																																				0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		8	337						8	337	---	---	---	---	-	83745800	T	-	83745800	7	5	81	1	0	1	0	1	0	0	0	0	14048	1493	52	0	355	0	SEC31A	4	83745800	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	82799594	83745800	107408476	29	32145											
DCLK2	166614	broad.mit.edu	37	chr4	151168835	151168835	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggccccctactgggataacaTcacggactctgccaaggtac	10	14	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:151168835T>C	ENST00000296550.7	+	13	2613	c.1859T>C	c.(1858-1860)aTc>aCc	p.I620T	DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T|DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGGATAACATCACGGACTCT	0.527																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(1858-1860)aTc>aCc		doublecortin-like kinase 2							70	72	72					4																	151168835		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151168835T>C	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1859T>C	4.37:g.151168835T>C	ENSP00000296550:p.Ile620Thr					DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T|DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T	p.I620T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			13	2613	+	all_hematologic(180;0.151)		620			Protein kinase.		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1859T>C	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	T	31	5.059723	0.93846	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.42900	0.96;0.96;0.96	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049932	0.85682	D	0.000000	T	0.64681	0.2620	M	0.74647	2.275	0.80722	D	1	D;P;D	0.62365	0.986;0.873;0.991	P;B;D	0.64877	0.885;0.385;0.93	T	0.67868	-0.5559	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	637;619;620	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	T	620;619;637	ENSP00000296550:I620T;ENSP00000427235:I619T;ENSP00000303887:I637T	ENSP00000296550:I620T	I	+	2	0	DCLK2	151388285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATC		0.527	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		7	196	0	0	0	1	0	7	196					C	151168835	T	C	151168835	3	2	81	1	0	0	0	0	1	0	0	0	4303	1435	50	4	1909	4	DCLK2	4	151168835	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	67423035	151168835	39985441	30	32146											
FGA	2243	broad.mit.edu	37	chr4	155505987	155505988	+	Splice_Site	INS	-	-	A													ggaggacatcatcacagtctINSaaaaaaaaaattaagctggt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:155505987_155505988insA	ENST00000302053.3	-	6	1970		c.e6-2			NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain						blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATCACAGTCTAAAAAAAAAAT	0.366																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.e6-2		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)																																			SO:0001630	splice_region_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505987_155505988insA		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1892-2->T	4.37:g.155505997_155505997dupA								NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			6	1970	-	all_hematologic(180;0.215)	Renal(120;0.0458)						A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Splice_Site	INS	ENST00000302053.3	37		CCDS3787.1																																																																																				0.366	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	Intron	10	253						10	253	---	---	---	---	A	155505988	-	A	155505987	8	5	81	1	0	1	1	0	0	0	1	0	5855	1536	53	0	714	0	FGA	4	155505987	Splice_Site	INS	-	TCGA-IB-7885-01A-11D-2154-08	4337152	155505987	35648289	31	32147											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000449407.2_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)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		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					SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		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)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	390						8	390	---	---	---	---	-	186544622	GGT	-	186544620	7	5	81	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-IB-7885-01A-11D-2154-08	31038633	186544620	4609656	32	32148											
ZFR	51663	broad.mit.edu	37	chr5	32404160	32404161	+	Frame_Shift_Ins	INS	-	-	T													gaggctttcaatgcagcttcINStttttttttatgtttctgtc					rs527380225		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:32404160_32404161insT	ENST00000265069.8	-	7	1176_1177	c.1074_1075insA	c.(1072-1077)aaagaafs	p.E359fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	359					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AATGCAGCTTCTTTTTTTTTAT	0.351																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(1072-1077)aaaagcfs		zinc finger RNA binding protein																																				SO:0001589	frameshift_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32404160_32404161insT	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.1075dupA	5.37:g.32404169_32404169dupT	ENSP00000265069:p.Glu359fs						p.S359fs	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	7	1176_1177	-			359					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Ins	INS	ENST00000265069.8	37	c.1074_1075insA	CCDS34139.1																																																																																				0.351	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			8	645						8	645	---	---	---	---	T	32404161	-	T	32404160	7	5	81	1	0	1	1	0	0	0	0	0	17712	922	32	0	2205	0	ZFR	5	32404160	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		32404160	148511100	33	32149											
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa	5	4	2	0	rs200909538	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	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)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19	19	19					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	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.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;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;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		11	68	0	0	0	1	0	11	68					A	68692367	T	A	68692367	3	1	81	1	0	0	0	0	1	0	0	0	13029	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	36288207	68692367	112222893	34	32150											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			10	1230						10	1230	---	---	---	---	-	79372776	TGA	-	79372774	7	5	81	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-7885-01A-11D-2154-08	10680407	79372774	101542486	35	32151											
FNIP1	96459	broad.mit.edu	37	chr5	131007940	131007941	+	Frame_Shift_Ins	INS	-	-	T													ggcacaatcttatctggaggINSttttttttccacaaccattc					rs201816128		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:131007940_131007941insT	ENST00000510461.1	-	14	2291_2292	c.2196_2197insA	c.(2194-2199)aaacctfs	p.P733fs	FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.P688fs|FNIP1_ENST00000307968.7_Frame_Shift_Ins_p.P705fs|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	733					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)		TTATCTGGAGGTTTTTTTTCCA	0.441																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2110-2115)aactccfs		folliculin interacting protein 1																																				SO:0001589	frameshift_variant	96459							g.chr5:131007940_131007941insT	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.2197dupA	5.37:g.131007948_131007948dupT	ENSP00000421985:p.Pro733fs					FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.NS687fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.NS732fs	p.NS704fs	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2111_2112	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Frame_Shift_Ins	INS	ENST00000510461.1	37	c.2112_2113insA	CCDS34227.1																																																																																				0.441	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		9	925						9	925	---	---	---	---	T	131007941	-	T	131007940	7	5	81	1	0	1	1	0	0	0	0	0	6000	1261	44	0	1323	0	FNIP1	5	131007940	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	51635166	131007940	49907320	36	32152											
TXNDC15	79770	broad.mit.edu	37	chr5	134232006	134232006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctaccaggtttggcaccGtagctgttcctaatatttta	7	9	1	0	rs139088311		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:134232006G>A	ENST00000358387.4	+	4	1403	c.778G>A	c.(778-780)Gta>Ata	p.V260I	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	260	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGGCACCGTAGCTGTTCC	0.338																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(778-780)Gta>Ata		thioredoxin domain containing 15		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	98	100	99		778	6.2	0.9	5	dbSNP_134	99	0,8600		0,0,4300	no	missense	TXNDC15	NM_024715.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	260/361	134232006	1,13005	2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134232006G>A	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.778G>A	5.37:g.134232006G>A	ENSP00000351157:p.Val260Ile					TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	p.V260I	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1403	+			260			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.778G>A	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.437679|5.437679	0.96168|0.96168	2.27E-4|2.27E-4	0.0|0.0	ENSG00000113621|ENSG00000113621	ENST00000509954|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.03301	.|3.98;3.98	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Thioredoxin domain (1);Thioredoxin-like fold (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.00137|0.00137	-1.2004|-1.2004	5|10	.|0.54805	.|T	.|0.06	2.2193|2.2193	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|260	.|Q96J42	.|TXD15_HUMAN	H|I	14|244;260;237	.|ENSP00000351157:V260I;ENSP00000443942:V237I	.|ENSP00000351157:V260I	R|V	+|+	2|1	0|0	TXNDC15|TXNDC15	134259905|134259905	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.972000|0.972000	0.66771|0.66771	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTA		0.338	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		40	546	0	0	0	1	0	40	546					A	134232006	G	A	134232006	3	1	81	1	0	0	0	0	1	0	0	0	16848	1145	40	1	792	1	TXNDC15	5	134232006	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	3224066	134232006	46683254	37	32153											
EGR1	1958	broad.mit.edu	37	chr5	137801684	137801686	+	In_Frame_Del	DEL	CAG	CAG	-													ggcggcgggggcggcagcaaCagcagcagcagcagcagcac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:137801684_137801686delCAG	ENST00000239938.4	+	1	506_508	c.234_236delCAG	c.(232-237)aacagc>aac	p.S84del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	84	Gly/Ser-rich.				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)			gcggcagcaacagcagcagcagc	0.724																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(232-237)aac>aa		early growth response 1				12,237,3657		1,0,10,41,155,1746						-8.4	0.3		dbSNP_132	11	4,434,7198		1,0,2,72,290,3453	no	codingComplex	EGR1	NM_001964.2		2,0,12,113,445,5199	A1A1,A1A2,A1R,A2A2,A2R,RR		5.736,6.3748,5.9522				16,671,10855				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801684_137801686delCAG	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.234_236delCAG	5.37:g.137801693_137801695delCAG	ENSP00000239938:p.Ser84del						p.NS78del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	506_508	+			78			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.234_236delCAG	CCDS4206.1																																																																																				0.724	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		9	122						9	122	---	---	---	---	-	137801686	CAG	-	137801684	7	5	81	1	0	1	0	1	0	0	0	0	4987	477	17	0	236	0	EGR1	5	137801684	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08	3569678	137801684	43113576	38	32154											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763117	140763117	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcacagcctctgatggCggcgacccgccccgatccag	11	18	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140763117C>T	ENST00000518325.1	+	1	651	c.651C>T	c.(649-651)ggC>ggT	p.G217G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(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)			CCTCTGATGGCGGCGACCCGC	0.607																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(649-651)ggC>ggT									17	20	19					5																	140763117		2089	4208	6297	SO:0001819	synonymous_variant	0							g.chr5:140763117C>T	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.651C>T	5.37:g.140763117C>T						PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	p.G217G	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	651	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.651C>T	CCDS54927.1																																																																																				0.607	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		5	108	0	0	0	1	0	5	108					T	140763117	C	T	140763117	2	4	81	1	0	0	0	0	0	0	0	1	11601	755	27	1		1	PCDHGA7	5	140763117	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2961433	140763117	40152143	39	32155											
GPRIN1	114787	broad.mit.edu	37	chr5	176025336	176025336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggggacctgctgtcccCaaggacctgggatcgcctgg	16	12	0	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:176025336C>T	ENST00000303991.4	-	2	1677	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	500					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCCAAGGACCTGG	0.547																																						ENST00000303991.4																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1498-1500)ttG>ttA		G protein regulated inducer of neurite outgrowth 1							78	85	83					5																	176025336		2203	4298	6501	SO:0001819	synonymous_variant	114787					growth cone|plasma membrane		g.chr5:176025336C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1500G>A	5.37:g.176025336C>T							p.L500L	NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1677	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	500					C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	c.1500G>A	CCDS4405.1																																																																																				0.547	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		29	530	0	0	0	1	0	29	530					T	176025336	C	T	176025336	2	4	81	1	0	0	0	0	0	0	0	1	6759	593	21	2		2	GPRIN1	5	176025336	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	35262219	176025336	4889924	40	32156											
BTNL9	153579	broad.mit.edu	37	chr5	180475168	180475168	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atcgcctatggcagcgtggtCctgcagcttcacagcatcat	10	13	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:180475168C>T	ENST00000327705.9	+	3	582	c.351C>T	c.(349-351)gtC>gtT	p.V117V	BTNL9_ENST00000376842.3_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376841.2_Silent_p.V117V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	117	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCGTGGTCCTGCAGCTTC	0.597																																						ENST00000327705.9																			0				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19						c.(349-351)gtC>gtT		butyrophilin-like 9							73	60	65					5																	180475168		2203	4300	6503	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180475168C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.351C>T	5.37:g.180475168C>T						BTNL9_ENST00000376841.2_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376842.3_Silent_p.V117V	p.V117V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	582	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	117			Ig-like V-type.		A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.351C>T	CCDS4460.2																																																																																				0.597	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		13	209	0	0	0	1	0	13	209					T	180475168	C	T	180475168	2	4	81	1	0	0	0	0	0	0	0	1	1572	842	30	2		2	BTNL9	5	180475168	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	4449832	180475168	440092	41	32157											
ATXN1	6310	broad.mit.edu	37	chr6	16327900	16327901	+	In_Frame_Ins	INS	-	-	TGC													gctgctgctgctgctgctgcINStgctgctgatgctgatgctg					rs200111316		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:16327900_16327901insTGC	ENST00000244769.4	-	8	1577_1578	c.641_642insGCA	c.(640-642)cag>caGCAg	p.214_214Q>QQ	ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214Q>QQ	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	214	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgatg	0.668																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(640-642)cca>cGCAca		ataxin 1																																				SO:0001652	inframe_insertion	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327900_16327901insTGC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.639_641dupGCA	6.37:g.16327904_16327906dupTGC	ENSP00000244769:p.Gln225dup					ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT	p.214_214P>RT	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1577_1578	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	214			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	In_Frame_Ins	INS	ENST00000244769.4	37	c.641_642insGCA	CCDS34342.1																																																																																				0.668	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		8	107						8	107	---	---	---	---	TGC	16327901	-	TGC	16327900	7	5	81	1	0	1	1	0	0	0	0	0	1210	796	28	0	1813	0	ATXN1	6	16327900	In_Frame_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		16327900	154787167	42	32158											
NRSN1	140767	broad.mit.edu	37	chr6	24145857	24145857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcttgtgccccccaaaatcGaagcatttggcgaagccgat	9	12	1	0	rs199771455		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:24145857G>A	ENST00000378491.4	+	4	572	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_080723.4	NP_542454.3			neurensin 1									p.E91K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCAAAATCGAAGCATTTGG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		14671	0.001		0.0	False		,,,				2504	0.0					ENST00000378491.4																			2	Substitution - Missense(2)	p.E91K(2)	lung(1)|skin(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(271-273)Gaa>Aaa		neurensin 1							102	97	99					6																	24145857		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145857G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.271G>A	6.37:g.24145857G>A	ENSP00000367752:p.Glu91Lys						p.E91K	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN			4	572	+			91						Missense_Mutation	SNP	ENST00000378491.4	37	c.271G>A	CCDS4549.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.178898	0.94846	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.24151	1.87	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.63877	0.919	T	0.50432	-0.8829	10	0.87932	D	0	5.9041	19.1095	0.93312	0.0:0.0:1.0:0.0	.	91	Q8IZ57	NRSN1_HUMAN	K	91	ENSP00000367752:E91K	ENSP00000367738:E91K	E	+	1	0	NRSN1	24253836	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.620000	0.98373	2.524000	0.85096	0.557000	0.71058	GAA		0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		37	428	0	0	0	1	0	37	428					A	24145857	G	A	24145857	3	1	81	1	0	0	0	0	1	0	0	0	10704	1059	37	1	277	1	NRSN1	6	24145857	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	7817957	24145857	146969210	43	32159											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782855	27782855	+	Frame_Shift_Del	DEL	A	A	-													tcaaatctgctccagtccctAaaaaaggctccaagaaggcc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:27782855delA	ENST00000359465.4	+	1	34	c.34delA	c.(34-36)aaafs	p.K13fs	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	13					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TCCAGTCCCTAAAAAAGGCTC	0.433																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(34-36)aafs		histone cluster 1, H2bm							92	93	93					6																	27782855		2203	4300	6503	SO:0001589	frameshift_variant	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782855delA	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"Histones / Replication-dependent"	4750	protein-coding gene	gene with protein product		602802	"H2B histone family, member E", "histone 1, H2bm"	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.34delA	6.37:g.27782855delA	ENSP00000352442:p.Lys13fs						p.K13fs	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	34	+			13					Q6NWQ3	Frame_Shift_Del	DEL	ENST00000359465.4	37	c.34delA	CCDS4629.1																																																																																				0.433	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		8	643						8	643	---	---	---	---	-	27782855	A	-	27782855	7	5	81	1	0	1	0	1	0	0	0	0	7182	363	13	0	36	0	HIST1H2BM	6	27782855	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	3636998	27782855	143332212	44	32160											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28212908	28212908	+	Frame_Shift_Del	DEL	T	T	-													catgggtcactgtgaaagagTttttttccctacatggcttc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:28212908delT	ENST00000377294.2	-	5	1867	c.1624delA	c.(1624-1626)actfs	p.T542fs	ZKSCAN4_ENST00000423974.2_Frame_Shift_Del_p.T387fs	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	542					transcription, DNA-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(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGTGAAAGAGTTTTTTTCCCT	0.443																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1624-1626)ctfs		zinc finger with KRAB and SCAN domains 4							155	141	146					6																	28212908		2203	4300	6503	SO:0001589	frameshift_variant	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28212908delT	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1624delA	6.37:g.28212908delT	ENSP00000366509:p.Thr542fs					ZKSCAN4_ENST00000423974.2_Frame_Shift_Del_p.T387fs	p.T542fs	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1867	-			542					B2RE32|Q5U7L4	Frame_Shift_Del	DEL	ENST00000377294.2	37	c.1624delA	CCDS4647.1																																																																																				0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		8	668						8	668	---	---	---	---	-	28212908	T	-	28212908	7	5	81	1	0	1	0	1	0	0	0	0	17742	1725	60	0	17	0	ZKSCAN4	6	28212908	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	430053	28212908	142902159	45	32161											
TRIM26	7726	broad.mit.edu	37	chr6	30166741	30166741	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcagacggggcggctccctGagatggggcggacgtctgtg	20	10	1	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30166741G>A	ENST00000454678.2	-	4	576	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	47					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						GCGGCTCCCTGAGATGGGGCG	0.602																																						ENST00000454678.2																			0				lung(1)|ovary(2)	3						c.(139-141)tCa>tTa		tripartite motif containing 26							47	45	46					6																	30166741		1509	2709	4218	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166741G>A	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.140C>T	6.37:g.30166741G>A	ENSP00000410446:p.Ser47Leu					TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L	p.S47L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN			4	576	-			47					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.140C>T	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790254	0.31685	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09	5.59	3.8	0.43715	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.676716	0.12973	N	0.423994	T	0.02929	0.0087	L	0.33485	1.01	0.09310	N	1	P	0.50369	0.934	P	0.47864	0.559	T	0.38457	-0.9660	10	0.21540	T	0.41	.	5.4594	0.16607	0.1742:0.1654:0.6604:0.0	.	47	Q12899	TRI26_HUMAN	L	47	ENSP00000391879:S47L;ENSP00000410446:S47L;ENSP00000395491:S47L;ENSP00000413673:S47L;ENSP00000387530:S47L;ENSP00000400920:S47L	ENSP00000413673:S47L	S	-	2	0	TRIM26	30274720	0.007000	0.16637	0.015000	0.15790	0.052000	0.14988	1.758000	0.38410	1.363000	0.46019	-0.163000	0.13421	TCA		0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		25	210	0	0	0	1	0	25	210					A	30166741	G	A	30166741	3	1	81	1	0	0	0	0	1	0	0	0	16553	1294	45	2	1507	2	TRIM26	6	30166741	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	1953833	30166741	140948326	46	32162											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		10	407						10	407	---	---	---	---	-	30653496	TGC	-	30653494	7	5	81	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-IB-7885-01A-11D-2154-08	486753	30653494	140461573	47	32163											
CFB	629	broad.mit.edu	37	chr6	31918989	31918989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaggagaaaaagctgactCggaaggaggtctacatcaag	14	6	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:31918989C>T	ENST00000425368.2	+	15	2437	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	CFB_ENST00000456570.1_Missense_Mutation_p.R1144W|CFB_ENST00000556679.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	642	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAGCTGACTCGGAAGGAGGT	0.502																																						ENST00000556679.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(3430-3432)Cgg>Tgg		complement factor B							93	95	94					6																	31918989		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31918989C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1924C>T	6.37:g.31918989C>T	ENSP00000416561:p.Arg642Trp					CFB_ENST00000425368.2_Missense_Mutation_p.R642W|CFB_ENST00000456570.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W	p.R1144W			P00751	CFAB_HUMAN			27	3485	+			642					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.3430C>T	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068731	0.76301	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.41	5.41	0.78517	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.166558	0.28865	N	0.013890	D	0.90126	0.6915	L	0.48260	1.515	0.37642	D	0.922095	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91549	0.5255	10	0.87932	D	0	-23.6051	11.7828	0.52023	0.1755:0.8245:0.0:0.0	.	1144;642	B4E1Z4;P00751	.;CFAB_HUMAN	W	1144;642;1144;993	ENSP00000451848:R1144W;ENSP00000416561:R642W;ENSP00000410815:R1144W;ENSP00000418996:R993W	ENSP00000416561:R642W	R	+	1	2	CFB;XXbac-BPG116M5.17	32026968	0.986000	0.35501	0.957000	0.39632	0.975000	0.68041	2.981000	0.49329	2.535000	0.85469	0.591000	0.81541	CGG		0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		39	337	0	0	0	1	0	39	337					T	31918989	C	T	31918989	3	4	81	1	0	0	0	0	1	0	0	0	3287	875	31	1	1982	1	CFB	6	31918989	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	1265495	31918989	139196078	48	32164											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		9	954						9	954	---	---	---	---	-	33411203	CAC	-	33411201	7	5	81	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-IB-7885-01A-11D-2154-08	1492212	33411201	137703866	49	32165											
PHIP	55023	broad.mit.edu	37	chr6	79655961	79655961	+	Frame_Shift_Del	DEL	T	T	-													tagctggggttttaagatccTttttttcctttcagggctgt							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:79655961delT	ENST00000275034.4	-	38	4554	c.4387delA	c.(4387-4389)aggfs	p.R1463fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1463					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)		TTTAAGATCCTTTTTTTCCTT	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4387-4389)ggfs		pleckstrin homology domain interacting protein							150	155	153					6																	79655961		2203	4300	6503	SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655961delT	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.4387delA	6.37:g.79655961delT	ENSP00000275034:p.Arg1463fs					PHIP_ENST00000479165.1_5'UTR	p.R1463fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4554	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1463					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000275034.4	37	c.4387delA	CCDS4987.1																																																																																				0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			10	675						10	675	---	---	---	---	-	79655961	T	-	79655961	7	5	81	1	0	1	0	1	0	0	0	0	11884	1608	56	0	1090	0	PHIP	6	79655961	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	46244760	79655961	91459106	50	32166											
ZNF292	23036	broad.mit.edu	37	chr6	87969936	87969936	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacaacactacatgaaacttCatgaaatgactcctgaagaa	5	9	1	5			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:87969936C>A	ENST00000369577.3	+	8	6632	c.6589C>A	c.(6589-6591)Cat>Aat	p.H2197N	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2197						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)		CATGAAACTTCATGAAATGAC	0.353																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6589-6591)Cat>Aat		zinc finger protein 292							196	195	196					6																	87969936		1863	4097	5960	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969936C>A	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.6589C>A	6.37:g.87969936C>A	ENSP00000358590:p.His2197Asn					ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	p.H2197N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6632	+		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)	2197					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6589C>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546126	0.86022	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.63744	-0.06;-0.06;-0.06	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	M	0.92268	3.29	0.54753	D	0.99998	D	0.69078	0.997	D	0.73380	0.98	D	0.85022	0.0912	10	0.52906	T	0.07	.	19.21	0.93749	0.0:1.0:0.0:0.0	.	2197	O60281	ZN292_HUMAN	N	2197;2192;115	ENSP00000358590:H2197N;ENSP00000342847:H2192N;ENSP00000428857:H115N	ENSP00000342847:H2192N	H	+	1	0	ZNF292	88026655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.541000	0.85698	0.591000	0.81541	CAT		0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		56	736	1	0	1.13205e-32	1	1.19269e-32	56	736					A	87969936	C	A	87969936	3	1	81	1	0	0	0	0	1	0	0	0	17879	826	29	3	6619	3	ZNF292	6	87969936	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	8313975	87969936	83145131	51	32167											
C6orf170	221322	broad.mit.edu	37	chr6	121402015	121402015	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaaaataatcactcactcGaaacccatgcagtgcttctt	4	12	4	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:121402015G>A	ENST00000398212.2	-	32	3725	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	TBC1D32_ENST00000275159.6_Nonsense_Mutation_p.R1267*|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1226	Rab-GAP TBC.				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)										TCACTCACTCGAAACCCATGC	0.353																																						ENST00000275159.6																			0											c.(3799-3801)Cga>Tga		TBC1 domain family, member 32							85	80	81					6																	121402015		1870	4117	5987	SO:0001587	stop_gained	221322							g.chr6:121402015G>A	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.3676C>T	6.37:g.121402015G>A	ENSP00000381270:p.Arg1226*					TBC1D32_ENST00000398212.2_Nonsense_Mutation_p.R1226*|TBC1D32_ENST00000398197.2_5'UTR	p.R1267*							33	3798	-								Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Nonsense_Mutation	SNP	ENST00000398212.2	37	c.3799C>T	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	40	8.517622	0.98845	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	.	.	.	5.55	5.55	0.83447	.	0.262258	0.35903	N	0.002901	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8591	0.92265	0.0:0.0:1.0:0.0	.	.	.	.	X	1267;1226	.	ENSP00000275159:R1267X	R	-	1	2	C6orf170	121443714	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.237000	0.65360	2.761000	0.94854	0.650000	0.86243	CGA		0.353	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		37	328	0	0	0	1	0	37	328					A	121402015	G	A	121402015	4	1	81	1	0	0	0	0	0	1	0	0	2351	1066	37	1	101	1	C6orf170	6	121402015	Nonsense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	33432079	121402015	49713052	52	32168											
THEMIS	387357	broad.mit.edu	37	chr6	128134640	128134640	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactggtccccaacagatacGgatgacagcttgtcatgagg	11	10	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134640G>A	ENST00000368248.2	-	4	1294	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	THEMIS_ENST00000368250.1_Silent_p.S303S|THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000543064.1_Silent_p.S382S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	382	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAACAGATACGGATGACAGCT	0.488																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(907-909)tcC>tcT		thymocyte selection associated							94	96	95					6																	128134640		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134640G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1146C>T	6.37:g.128134640G>A						THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000368248.2_Silent_p.S382S	p.S303S			Q8N1K5	THMS1_HUMAN			5	1407	-			382			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.909C>T	CCDS34534.1																																																																																				0.488	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		38	319	0	0	0	1	0	38	319					A	128134640	G	A	128134640	2	1	81	1	0	0	0	0	0	0	0	1	15912	1103	39	1		1	THEMIS	6	128134640	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	6732625	128134640	42980427	53	32169											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				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)	p.Q33K(1)		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)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	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.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	458						7	458	---	---	---	---	-	137815212	TGG	-	137815210	7	5	81	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-IB-7885-01A-11D-2154-08	9680570	137815210	33299857	54	32170											
GLCCI1	113263	broad.mit.edu	37	chr7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-													cctctgtccagcagccatccCagcagcagcagctcctgcag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		8	1470						8	1470	---	---	---	---	-	8126099	CAG	-	8126097	7	5	81	1	0	1	0	1	0	0	0	0	6460	595	21	0	1603	0	GLCCI1	7	8126097	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08		8126097	151012566	55	32171											
HECW1	23072	broad.mit.edu	37	chr7	43447240	43447240	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttccattcagcctgggaaAcacagcatcttccccgccct	6	16	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:43447240A>G	ENST00000395891.2	+	8	1316	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HECW1_ENST00000453890.1_Silent_p.K237K|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	237	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						AGCCTGGGAAACACAGCATCT	0.493																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(709-711)aaA>aaG		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							54	54	54					7																	43447240		1914	4153	6067	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43447240A>G	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.711A>G	7.37:g.43447240A>G						HECW1_ENST00000453890.1_Silent_p.K237K|HECW1_ENST00000471043.1_3'UTR	p.K237K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			8	1316	+			237			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.711A>G	CCDS5469.2																																																																																				0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		19	202	0	0	0	1	0	19	202					G	43447240	A	G	43447240	2	3	81	1	0	0	0	0	0	0	0	1	7072	40	2	4		4	HECW1	7	43447240	Silent	SNP	A	TCGA-IB-7885-01A-11D-2154-08	35321143	43447240	115691423	56	32172											
PCLO	27445	broad.mit.edu	37	chr7	82584750	82584750	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctgacgtaactctTctgtcggagatgcatcttca	9	12	4	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:82584750T>C	ENST00000333891.9	-	5	5856	c.5519A>G	c.(5518-5520)gAa>gGa	p.E1840G	PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	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						ACGTAACTCTTCTGTCGGAGA	0.438																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5518-5520)gAa>gGa		piccolo presynaptic cytomatrix protein							224	206	212					7																	82584750		1870	4105	5975	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584750T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5519A>G	7.37:g.82584750T>C	ENSP00000334319:p.Glu1840Gly					PCLO_ENST00000333891.8_Missense_Mutation_p.E1840G	p.E1840G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5856	-			1771						Missense_Mutation	SNP	ENST00000333891.9	37	c.5519A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.855731	0.32791	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.30448	1.53;1.55	5.57	5.57	0.84162	.	.	.	.	.	T	0.42585	0.1209	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.41645	-0.9497	9	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	1840;1840	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1771;1840;1840	ENSP00000334319:E1840G;ENSP00000388393:E1840G	ENSP00000334319:E1840G	E	-	2	0	PCLO	82422686	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.013000	0.88655	2.116000	0.64780	0.533000	0.62120	GAA		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		74	768	0	0	0	1	0	74	768					C	82584750	T	C	82584750	3	2	81	1	0	0	0	0	1	0	0	0	11625	1783	62	4	10010	4	PCLO	7	82584750	Missense_Mutation	SNP	T	TCGA-IB-7885-01A-11D-2154-08	39137510	82584750	76553913	57	32173											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					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)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	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.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			7	377						7	377	---	---	---	---	-	100028825	CCA	-	100028823	7	5	81	1	0	1	0	1	0	0	0	0	9518	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-IB-7885-01A-11D-2154-08	17444073	100028823	59109840	58	32174											
PSMC2	5701	broad.mit.edu	37	chr7	102996160	102996160	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtattaaagaatctgacacTggcctggccccaccagcact	9	13	1	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:102996160T>C	ENST00000435765.1	+	5	621	c.210T>C	c.(208-210)acT>acC	p.T70T	PSMC2_ENST00000292644.3_Silent_p.T70T|SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATCTGACACTGGCCTGGCCC	0.448																																						ENST00000435765.1																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						c.(208-210)acT>acC		proteasome (prosome, macropain) 26S subunit, ATPase, 2							95	93	94					7																	102996160		2203	4300	6503	SO:0001819	synonymous_variant	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:102996160T>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9548	protein-coding gene	gene with protein product	"proteasome 26S subunit, ATPase, 2", "mammalian suppressor of sgv-1 of yeast", "protease 26S subunit 7", "putative protein product of Nbla10058"	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.210T>C	7.37:g.102996160T>C						SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T	p.T70T	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN			5	621	+			70					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	c.210T>C	CCDS5731.1																																																																																				0.448	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		14	168	0	0	0	1	0	14	168					C	102996160	T	C	102996160	2	2	81	1	0	0	0	0	0	0	0	1	12733	1567	55	4		4	PSMC2	7	102996160	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08	2967337	102996160	56142503	59	32175											
SSPO	23145	broad.mit.edu	37	chr7	149524951	149524951	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgaacgccacaaagacccaGagtaactgcagttcagctcg	9	12	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:149524951G>A	ENST00000378016.2	+	0	14862							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)			CAAAGACCCAGAGTAACTGCA	0.682																																						ENST00000378016.2																			0													SCO-spondin							45	56	52					7																	149524951		2096	4206	6302			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149524951G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149524951G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14862	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				14	204	0	0	0	1	0	14	204					A	149524951	G	A	149524951	1	1	81	0	1	0	0	0	0	0	0	0	15241	933	33	2		2	SSPO	7	149524951	RNA	SNP	G	TCGA-IB-7885-01A-11D-2154-08	46528791	149524951	9613712	60	32176											
SH2D4A	63898	broad.mit.edu	37	chr8	19250984	19250984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgatgcctctgcagacGcctacagcttcctgggcgtg	11	14	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:19250984G>A	ENST00000265807.3	+	9	1615	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T|SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	402	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)		CTCTGCAGACGCCTACAGCTT	0.498																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.(1204-1206)Gcc>Acc		SH2 domain containing 4A							86	76	80					8																	19250984		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19250984G>A	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.1204G>A	8.37:g.19250984G>A	ENSP00000265807:p.Ala402Thr					SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T	p.A402T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	9	1615	+			402			SH2.		B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.1204G>A	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602992	0.28534	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.62639	0.01;0.01;0.01	5.89	3.48	0.39840	SH2 motif (4);	0.143839	0.49916	D	0.000129	T	0.32315	0.0825	N	0.01656	-0.775	0.21740	N	0.999567	B;B	0.28026	0.198;0.064	B;B	0.28784	0.094;0.039	T	0.20672	-1.0268	10	0.19590	T	0.45	.	12.1602	0.54099	0.0:0.0:0.2721:0.7279	.	357;402	B4DDR1;Q9H788	.;SH24A_HUMAN	T	402;357;402	ENSP00000265807:A402T;ENSP00000429482:A357T;ENSP00000428684:A402T	ENSP00000265807:A402T	A	+	1	0	SH2D4A	19295264	1.000000	0.71417	0.996000	0.52242	0.276000	0.26787	3.207000	0.51106	0.468000	0.27243	-1.262000	0.01453	GCC		0.498	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071		27	299	0	0	0	1	0	27	299					A	19250984	G	A	19250984	3	1	81	1	0	0	0	0	1	0	0	0	14285	1087	38	1	1284	1	SH2D4A	8	19250984	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		19250984	127113038	61	32177											
HR	55806	broad.mit.edu	37	chr8	21985133	21985133	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccaggaggtccagggCacagtgtctggctgccccag	17	13	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:21985133C>T	ENST00000381418.4	-	3	2302	c.822G>A	c.(820-822)gtG>gtA	p.V274V	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Silent_p.V274V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	274					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)		AGGTCCAGGGCACAGTGTCTG	0.657																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(820-822)gtG>gtA		hair growth associated							56	64	61					8																	21985133		2203	4300	6503	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21985133C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.822G>A	8.37:g.21985133C>T						HR_ENST00000312841.8_Silent_p.V274V	p.V274V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	3	2302	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	274					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.822G>A	CCDS6022.1																																																																																				0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			42	538	0	0	0	1	0	42	538					T	21985133	C	T	21985133	2	4	81	1	0	0	0	0	0	0	0	1	7377	697	25	2		2	HR	8	21985133	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	2734149	21985133	124378889	62	32178											
TLN1	7094	broad.mit.edu	37	chr9	35699041	35699041	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggactgaccttgggtttggcCcggggcttcagctgctctag	15	11	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:35699041C>T	ENST00000314888.9	-	52	7340	c.6987G>A	c.(6985-6987)cgG>cgA	p.R2329R	TLN1_ENST00000540444.1_Silent_p.R2217R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2329	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				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)			TGGGTTTGGCCCGGGGCTTCA	0.567																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6985-6987)cgG>cgA		talin 1							92	82	85					9																	35699041		2203	4299	6502	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35699041C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6987G>A	9.37:g.35699041C>T						TLN1_ENST00000540444.1_Silent_p.R2217R	p.R2329R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		52	7340	-	all_epithelial(49;0.167)		2329			I/LWEQ.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.6987G>A	CCDS35009.1																																																																																				0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		28	253	0	0	0	1	0	28	253					T	35699041	C	T	35699041	2	4	81	1	0	0	0	0	0	0	0	1	15999	610	22	2		2	TLN1	9	35699041	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08		35699041	105514390	63	32179											
TMC1	117531	broad.mit.edu	37	chr9	75263574	75263574	+	Frame_Shift_Del	DEL	A	A	-													acacccccaggatgtcacccAaaaaaggtatttacaaaatc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:75263574delA	ENST00000297784.5	+	5	550	c.10delA	c.(10-12)aaafs	p.K5fs	TMC1_ENST00000340019.3_Frame_Shift_Del_p.K5fs|TMC1_ENST00000396237.3_Frame_Shift_Del_p.K5fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	5	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATGTCACCCAAAAAAGGTAT	0.398																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(10-12)aafs		transmembrane channel-like 1							135	133	134					9																	75263574		2203	4300	6503	SO:0001589	frameshift_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75263574delA	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.10delA	9.37:g.75263574delA	ENSP00000297784:p.Lys5fs					TMC1_ENST00000340019.3_Frame_Shift_Del_p.K5fs|TMC1_ENST00000396237.3_Frame_Shift_Del_p.K5fs	p.K5fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			5	550	+			5			Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Frame_Shift_Del	DEL	ENST00000297784.5	37	c.10delA	CCDS6643.1																																																																																				0.398	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			9	756						9	756	---	---	---	---	-	75263574	A	-	75263574	7	5	81	1	0	1	0	1	0	0	0	0	16036	131	5	0	12	0	TMC1	9	75263574	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	39564533	75263574	65949857	64	32180											
PRUNE2	158471	broad.mit.edu	37	chr9	79325846	79325846	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttctcccacggggctgtcGtcactgaggaaaacagagct	11	13	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79325846G>A	ENST00000376718.3	-	8	1467	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D	PRUNE2_ENST00000428286.1_Silent_p.D89D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	448					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						CGGGGCTGTCGTCACTGAGGA	0.602																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(265-267)gaC>gaT		prune homolog 2 (Drosophila)							46	42	43					9																	79325846		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79325846G>A	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.1344C>T	9.37:g.79325846G>A						PRUNE2_ENST00000376718.3_Silent_p.D448D	p.D89D			Q8WUY3	PRUN2_HUMAN			8	1467	-			448					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.267C>T	CCDS47982.1																																																																																				0.602	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		18	177	0	0	0	1	0	18	177					A	79325846	G	A	79325846	2	1	81	1	0	0	0	0	0	0	0	1	12688	1136	40	1		1	PRUNE2	9	79325846	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	4062272	79325846	61887585	65	32181											
FAM125B	89853	broad.mit.edu	37	chr9	129184132	129184132	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcgtccttctcttcctcaGgcacatctccctaacacttc	3	18	4	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:129184132G>A	ENST00000361171.3	+	7	743		c.e7-1		MVB12B_ENST00000436593.3_Splice_Site	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B						protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCTTCCTCAGGCACATCTCC	0.522																																						ENST00000361171.3																			0											c.e7-1		multivesicular body subunit 12B							176	144	155					9																	129184132		2203	4300	6503	SO:0001630	splice_region_variant	89853							g.chr9:129184132G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.663-1G>A	9.37:g.129184132G>A						MVB12B_ENST00000436593.3_Splice_Site		NM_033446.2	NP_258257.1					7	743	+								Q8N6S7	Splice_Site	SNP	ENST00000361171.3	37		CCDS35142.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439940	0.43326	.	.	ENSG00000196814	ENST00000361171;ENST00000436593	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8661	0.92293	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM125B	128223953	1.000000	0.71417	0.999000	0.59377	0.443000	0.32047	6.759000	0.74934	2.526000	0.85167	0.585000	0.79938	.		0.522	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525	Intron	32	549	0	0	0	1	0	32	549					A	129184132	G	A	129184132	5	1	81	1	0	0	0	0	0	0	1	0	5449	1014	35	2	692	2	FAM125B	9	129184132	Splice_Site	SNP	G	TCGA-IB-7885-01A-11D-2154-08	49858286	129184132	12029299	66	32182											
FCN2	2220	broad.mit.edu	37	chr9	137772750	137772750	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcctgggctctccaggCggcagacacctgtccaggta	13	14	1	1	rs372072935	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:137772750C>T	ENST00000291744.6	+	1	93	c.83C>T	c.(82-84)gCg>gTg	p.A28V	FCN2_ENST00000350339.2_Missense_Mutation_p.A28V	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	28					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)		GCTCTCCAGGCGGCAGACACC	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.0					ENST00000350339.2																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20						c.(82-84)gCg>gTg		ficolin (collagen/fibrinogen domain containing lectin) 2		C	VAL/ALA,VAL/ALA	1,4403	4.2+/-10.8	0,1,2201	33	37	36		83,83	0.8	0.1	9		36	0,8600		0,0,4300	no	missense,missense	FCN2	NM_004108.2,NM_015837.2	64,64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	28/314,28/276	137772750	1,13003	2202	4300	6502	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772750C>T	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.83C>T	9.37:g.137772750C>T	ENSP00000291744:p.Ala28Val					FCN2_ENST00000291744.6_Missense_Mutation_p.A28V	p.A28V	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	97	+		Myeloproliferative disorder(178;0.0333)	28					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.83C>T	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224474	0.22457	2.27E-4	0.0	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.58506	0.33;0.63	0.821	0.821	0.18799	.	.	.	.	.	T	0.66597	0.2805	M	0.76574	2.34	0.09310	N	1	D;P	0.71674	0.998;0.718	P;B	0.60345	0.873;0.221	T	0.53823	-0.8384	9	0.62326	D	0.03	.	4.9504	0.14011	0.0:1.0:0.0:0.0	.	28;28	Q15485-2;Q15485	.;FCN2_HUMAN	V	28	ENSP00000291741:A28V;ENSP00000291744:A28V	ENSP00000291744:A28V	A	+	2	0	FCN2	136912571	0.001000	0.12720	0.084000	0.20598	0.162000	0.22319	0.255000	0.18333	0.713000	0.32060	0.467000	0.42956	GCG		0.617	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		8	98	0	0	0	1	0	8	98					T	137772750	C	T	137772750	3	4	81	1	0	0	0	0	1	0	0	0	5817	768	27	1	85	1	FCN2	9	137772750	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	8588618	137772750	3440681	67	32183											
EHMT1	79813	broad.mit.edu	37	chr9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttagcttgcttgccttttGttttagcagctgcagtatct	8	8	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					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)	p.V249F(2)|p.V280F(2)		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)		cttgccttttgttttAGCAGC	0.358																																						ENST00000460843.1																			4	Substitution - Missense(4)	p.V249F(2)|p.V280F(2)	endometrium(4)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(838-840)Gtt>Ttt		euchromatic histone-lysine N-methyltransferase 1							35	35	35					9																	140637837		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637837G>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.838G>T	9.37:g.140637837G>T	ENSP00000417980:p.Val280Phe					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F	p.V280F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	865	+	all_cancers(76;0.164)		280					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.838G>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065618	0.55539	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70631	1.61;0.83;-0.5	5.42	5.42	0.78866	.	0.151391	0.42294	D	0.000734	T	0.77552	0.4147	L	0.44542	1.39	0.32618	N	0.523778	P;D;B	0.63880	0.94;0.993;0.302	P;P;B	0.59487	0.564;0.858;0.117	T	0.81955	-0.0696	10	0.56958	D	0.05	.	17.9855	0.89154	0.0:0.0:1.0:0.0	.	280;249;280	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	F	249;249;280;280	ENSP00000334476:V249F;ENSP00000417328:V280F;ENSP00000417980:V280F	ENSP00000334476:V249F	V	+	1	0	EHMT1	139757658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	2.539000	0.85634	0.561000	0.74099	GTT		0.358	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		14	162	1	0	2.32078e-09	1	2.38133e-09	14	162					T	140637837	G	T	140637837	3	4	81	1	0	0	0	0	1	0	0	0	4999	1377	48	3	856	3	EHMT1	9	140637837	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	2865087	140637837	575594	68	32184											
ANK3	288	broad.mit.edu	37	chr10	61831289	61831290	+	Frame_Shift_Ins	INS	-	-	T													cttacattcctgacttatgaINSttttttttacacctccttgt					rs28932171|rs370637835	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:61831289_61831290insT	ENST00000280772.2	-	37	9540_9541	c.9349_9350insA	c.(9349-9351)atcfs	p.I3117fs	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)	3117			I -> V (in dbSNP:rs28932171).		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						CTGACTTATGATTTTTTTTACA	0.401																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9349-9351)catfs		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001589	frameshift_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831289_61831290insT	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.9350dupA	10.37:g.61831297_61831297dupT	ENSP00000280772:p.Ile3117fs					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.H3117fs	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9540_9541	-			3117		I -> V (in dbSNP:rs28932171).			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Frame_Shift_Ins	INS	ENST00000280772.2	37	c.9349_9350insA	CCDS7258.1																																																																																				0.401	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	951						7	951	---	---	---	---	T	61831290	-	T	61831289	7	5	81	1	0	1	1	0	0	0	0	0	622	333	12	0	4124	0	ANK3	10	61831289	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		61831289	73703458	69	32185											
PRF1	5551	broad.mit.edu	37	chr10	72358049	72358049	+	Frame_Shift_Del	DEL	C	C	-													cagacctgcaacctcaggggCccccctgtggccaggagcac					rs145695221	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:72358049delC	ENST00000441259.1	-	3	1588	c.1428delG	c.(1426-1428)gggfs	p.G476fs	PRF1_ENST00000373209.2_Frame_Shift_Del_p.G476fs	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	476	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						ACCTCAGGGGCCCCCCTGTGG	0.602			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(1426-1428)ggfs		perforin 1 (pore forming protein)							84	95	92					10																	72358049		2203	4300	6503	SO:0001589	frameshift_variant	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358049delC	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.1428delG	10.37:g.72358049delC	ENSP00000398568:p.Gly476fs					PRF1_ENST00000373209.2_Frame_Shift_Del_p.G476fs	p.G476fs	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1588	-			476			C2.		B2R6X4|Q59F57|Q86WX7	Frame_Shift_Del	DEL	ENST00000441259.1	37	c.1428delG	CCDS7305.1																																																																																				0.602	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		7	546						7	546	---	---	---	---	-	72358049	C	-	72358049	7	5	81	1	0	1	0	1	0	0	0	0	12525	726	26	0	243	0	PRF1	10	72358049	Frame_Shift_Del	DEL	C	TCGA-IB-7885-01A-11D-2154-08	10526760	72358049	63176698	70	32186											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		13	938						13	938	---	---	---	---	-	81070789	CTC	-	81070787	7	5	81	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-IB-7885-01A-11D-2154-08	8712738	81070787	54463960	71	32187											
TLL2	7093	broad.mit.edu	37	chr10	98273378	98273379	+	Frame_Shift_Ins	INS	-	-	CG													ctccccgagtcccccggcgcINScgcgaggcagcggcagcagc							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr10:98273378_98273379insCG	ENST00000357947.3	-	1	289_290	c.64_65insCG	c.(64-66)ggcfs	p.G22fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	22					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)		TCCCCCGGCGCCGCGAGGCAGC	0.728																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(64-66)cgcfs		tolloid-like 2																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98273378_98273379insCG	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.63_64dupCG	10.37:g.98273381_98273382dupCG	ENSP00000350630:p.Gly22fs					TLL2_ENST00000469598.1_5'UTR	p.R22fs	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	1	289_290	-		Colorectal(252;0.0846)	22					A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.64_65insCG	CCDS7449.1																																																																																				0.728	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			9	108						9	108	---	---	---	---	CG	98273379	-	CG	98273378	7	5	81	1	0	1	1	0	0	0	0	0	15998	739	26	0	3066	0	TLL2	10	98273378	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	17202591	98273378	37261369	72	32188											
MRVI1	10335	broad.mit.edu	37	chr11	10645395	10645395	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aagttctgatttctcatcagGatgtgctcctttgtggtaaa	9	7	3	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:10645395G>T	ENST00000436272.1	-	9	1374	c.1296C>A	c.(1294-1296)atC>atA	p.I432I	MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000547195.1_Silent_p.I368I|MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000423302.2_Silent_p.I459I			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	432					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)		TTCTCATCAGGATGTGCTCCT	0.483																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1102-1104)atC>atA		murine retrovirus integration site 1 homolog							99	98	99					11																	10645395		1960	4122	6082	SO:0001819	synonymous_variant	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10645395G>T	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.1296C>A	11.37:g.10645395G>T						MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000436272.1_Silent_p.I432I	p.I368I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	9	1604	-			432					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	37	c.1104C>A																																																																																					0.483	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		16	192	1	0	3.45872e-05	1	3.51835e-05	16	192					T	10645395	G	T	10645395	2	4	81	1	0	0	0	0	0	0	0	1	9894	1164	41	3		3	MRVI1	11	10645395	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08		10645395	124361121	73	32189											
HIPK3	10114	broad.mit.edu	37	chr11	33373261	33373261	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagagcacttttgtggaggAcactcatgaaaacacagaat	10	7	1	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:33373261A>T	ENST00000303296.4	+	15	3220	c.2915A>T	c.(2914-2916)gAc>gTc	p.D972V	AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V|HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	972	Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTGTGGAGGACACTCATGAA	0.478																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(2914-2916)gAc>gTc		homeodomain interacting protein kinase 3							127	112	117					11																	33373261		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373261A>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2915A>T	11.37:g.33373261A>T	ENSP00000304226:p.Asp972Val					HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V	p.D972V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			15	3220	+			972			Required for localization to nuclear speckles (By similarity).		O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.2915A>T	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091829	0.36952	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.52526	0.67;0.66;0.67;0.67	6.05	3.75	0.43078	.	0.268050	0.31821	N	0.007020	T	0.33702	0.0872	N	0.14661	0.345	0.30727	N	0.747639	B;B	0.33103	0.397;0.042	B;B	0.41571	0.36;0.056	T	0.34129	-0.9841	10	0.19147	T	0.46	.	10.2146	0.43160	0.8652:0.0:0.1348:0.0	.	951;972	Q9H422-2;Q9H422	.;HIPK3_HUMAN	V	951;972;951;951	ENSP00000431710:D951V;ENSP00000304226:D972V;ENSP00000368301:D951V;ENSP00000398241:D951V	ENSP00000304226:D972V	D	+	2	0	HIPK3	33329837	0.998000	0.40836	0.138000	0.22173	0.108000	0.19459	3.844000	0.55873	0.538000	0.28769	-0.263000	0.10527	GAC		0.478	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		25	282	0	0	0	1	0	25	282					T	33373261	A	T	33373261	3	4	81	1	0	0	0	0	1	0	0	0	7148	275	10	5	2969	5	HIPK3	11	33373261	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	22727866	33373261	101633255	74	32190											
CAPRIN1	4076	broad.mit.edu	37	chr11	34107957	34107957	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tgccccagctggtttgccctCcaggttagtagtggtacatt	11	11	0	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:34107957C>G	ENST00000341394.4	+	11	1417	c.1228C>G	c.(1228-1230)Cca>Gca	p.P410A	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	410					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)				GGTTTGCCCTCCAGGTTAGTA	0.363																																						ENST00000341394.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18						c.(1228-1230)Cca>Gca		cell cycle associated protein 1							75	72	73					11																	34107957		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34107957C>G	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.1228C>G	11.37:g.34107957C>G	ENSP00000340329:p.Pro410Ala					CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A	p.P410A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN			11	1417	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	410					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1228C>G	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278865	0.59758	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	6.03	6.03	0.97812	.	0.098488	0.64402	D	0.000001	T	0.31513	0.0799	L	0.35414	1.06	0.80722	D	1	B;B	0.25850	0.136;0.023	B;B	0.21151	0.033;0.019	T	0.04621	-1.0938	10	0.21540	T	0.41	-6.388	20.5753	0.99366	0.0:1.0:0.0:0.0	.	410;410	Q14444;Q14444-2	CAPR1_HUMAN;.	A	410;410;410;410;329	ENSP00000340329:P410A;ENSP00000374296:P410A;ENSP00000434150:P410A;ENSP00000434204:P410A;ENSP00000431581:P329A	ENSP00000340329:P410A	P	+	1	0	CAPRIN1	34064533	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.642000	0.61383	2.868000	0.98415	0.557000	0.71058	CCA		0.363	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		20	179	0	0	0	1	0	20	179					G	34107957	C	G	34107957	3	3	81	1	0	0	0	0	1	0	0	0	2642	855	30	5	1266	5	CAPRIN1	11	34107957	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	734696	34107957	100898559	75	32191											
PACSIN3	29763	broad.mit.edu	37	chr11	47203984	47203984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtccccctccactttcgggCccagtcagccaactgctggg	11	17	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:47203984C>T	ENST00000539589.1	-	4	523	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	61	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.		A -> V (in dbSNP:rs7106654). {ECO:0000269|PubMed:10531379}.		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CACTTTCGGGCCCAGTCAGCC	0.677																																						ENST00000539589.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(181-183)Gcc>Acc		protein kinase C and casein kinase substrate in neurons 3							59	51	53					11																	47203984		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47203984C>T	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"syndapin III"	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.181G>A	11.37:g.47203984C>T	ENSP00000440945:p.Ala61Thr					PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	p.A61T	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN			4	523	-			61		A -> V (in dbSNP:rs7106654).	FCH.		A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.181G>A	CCDS31481.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497427	0.64186	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462;ENST00000531226;ENST00000525725;ENST00000530405;ENST00000524509	T;T;T;T;T;T;T	0.52526	2.31;2.31;2.31;0.66;0.66;0.66;0.66	5.01	5.01	0.66863	Fps/Fes/Fer/CIP4 homology (3);	0.167650	0.52532	D	0.000063	T	0.40932	0.1137	L	0.46885	1.475	0.58432	D	0.999998	P	0.45531	0.86	B	0.43838	0.433	T	0.26849	-1.0091	10	0.40728	T	0.16	-13.7472	7.1565	0.25641	0.218:0.6951:0.0:0.0869	.	61	Q9UKS6	PACN3_HUMAN	T	61	ENSP00000298838:A61T;ENSP00000440945:A61T;ENSP00000437252:A61T;ENSP00000434699:A61T;ENSP00000435638:A61T;ENSP00000435672:A61T;ENSP00000431861:A61T	ENSP00000298838:A61T	A	-	1	0	PACSIN3	47160560	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.895000	0.48648	2.511000	0.84671	0.561000	0.74099	GCC		0.677	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		32	355	0	0	0	1	0	32	355					T	47203984	C	T	47203984	3	4	81	1	0	0	0	0	1	0	0	0	11418	739	26	2	1125	2	PACSIN3	11	47203984	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	13096027	47203984	87802532	76	32192											
ZFP91	80829	broad.mit.edu	37	chr11	58347089	58347089	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcagggcaagaagagtccgcGactcctgtgagtaacagtct	12	10	2	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58347089G>A	ENST00000316059.6	+	1	506	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q|LPXN_ENST00000528954.1_5'Flank|LPXN_ENST00000528489.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	112					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)				AAGAGTCCGCGACTCCTGTGA	0.672											OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(334-336)cGa>cAa		ZFP91 zinc finger protein							15	16	16					11																	58347089		1775	3610	5385	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58347089G>A	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.335G>A	11.37:g.58347089G>A	ENSP00000339030:p.Arg112Gln		OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1030	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q	p.R112Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			1	506	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	112					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.335G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756859	0.49362	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.13901	2.55	3.77	3.77	0.43336	.	.	.	.	.	T	0.07908	0.0198	N	0.19112	0.55	0.41174	D	0.986189	P;P	0.44241	0.829;0.738	B;B	0.33339	0.162;0.078	T	0.24083	-1.0170	9	0.59425	D	0.04	-2.8941	11.4656	0.50237	0.0:0.0:1.0:0.0	.	112;112	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	112	ENSP00000339030:R112Q	ENSP00000374569:R112Q	R	+	2	0	ZFP91	58103665	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.412000	0.59787	1.815000	0.52974	0.313000	0.20887	CGA		0.672	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		12	89	0	0	0	1	0	12	89					A	58347089	G	A	58347089	3	1	81	1	0	0	0	0	1	0	0	0	17708	1058	37	1	337	1	ZFP91	11	58347089	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	11143105	58347089	76659427	77	32193											
MYO7A	4647	broad.mit.edu	37	chr11	76918417	76918417	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaagtcctcagagggAttcagcctctttgtcaaaat	7	12	5	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:76918417A>G	ENST00000409709.3	+	42	6098	c.5826A>G	c.(5824-5826)ggA>ggG	p.G1942G	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.G1893G|MYO7A_ENST00000458637.2_Silent_p.G1904G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1942	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCAGAGGGATTCAGCCTCT	0.572																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(5824-5826)ggA>ggG		myosin VIIA							42	46	45					11																	76918417		2056	4185	6241	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76918417A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5826A>G	11.37:g.76918417A>G						MYO7A_ENST00000409619.2_Silent_p.G1893G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.G1904G	p.G1942G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			42	6098	+			1942			FERM 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.5826A>G	CCDS53683.1																																																																																				0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		4	62	0	0	0	1	0	4	62					G	76918417	A	G	76918417	2	3	81	1	0	0	0	0	0	0	0	1	10123	320	12	4		4	MYO7A	11	76918417	Silent	SNP	A	TCGA-IB-7885-01A-11D-2154-08	18571328	76918417	58088099	78	32194											
ENDOD1	23052	broad.mit.edu	37	chr11	94862206	94862206	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctccagaggcatctgaGggaagtagtagctttttggg	14	7	1	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:94862206G>A	ENST00000278505.4	+	2	1084	c.966G>A	c.(964-966)gaG>gaA	p.E322E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	322						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGGCATCTGAGGGAAGTAGTA	0.433																																						ENST00000278505.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11						c.(964-966)gaG>gaA		endonuclease domain containing 1							68	64	65					11																	94862206		1842	4084	5926	SO:0001819	synonymous_variant	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862206G>A	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.966G>A	11.37:g.94862206G>A							p.E322E	NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN			2	1084	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	322					A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	37	c.966G>A	CCDS41699.1																																																																																				0.433	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		27	325	0	0	0	1	0	27	325					A	94862206	G	A	94862206	2	1	81	1	0	0	0	0	0	0	0	1	5132	991	35	2		2	ENDOD1	11	94862206	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	17943789	94862206	40144310	79	32195											
NCAM1	4684	broad.mit.edu	37	chr11	113126681	113126681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacctgatcaagcaggatgaCggcggctcccccatcagaca	10	14	2	3			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:113126681C>T	ENST00000533760.1	+	15	2126	c.1527C>T	c.(1525-1527)gaC>gaT	p.D509D	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.D627D	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	637	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		AGCAGGATGACGGCGGCTCCC	0.552																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1879-1881)gaC>gaT		neural cell adhesion molecule 1							37	38	38					11																	113126681		1968	4146	6114	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113126681C>T		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.1527C>T	11.37:g.113126681C>T						NCAM1_ENST00000533760.1_Silent_p.D509D|NCAM1_ENST00000397957.4_3'UTR	p.D627D	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	14	1881	+		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)	637			Fibronectin type-III 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.1881C>T																																																																																					0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		6	57	0	0	0	1	0	6	57					T	113126681	C	T	113126681	2	4	81	1	0	0	0	0	0	0	0	1	10244	535	19	1		1	NCAM1	11	113126681	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08	18264475	113126681	21879835	80	32196											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-													agcagccaccgccacctcaaCagcagcagcagcagcagcag					rs372118289		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.64	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		14	291						14	291	---	---	---	---	-	8200560	CAG	-	8200558	7	5	81	1	0	1	0	1	0	0	0	0	6039	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08		8200558	125651337	81	32197											
SLCO1C1	53919	broad.mit.edu	37	chr12	20854341	20854341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atcactcagatagagagaagGtttgatatcccttcttcact	7	9	4	4			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:20854341G>T	ENST00000266509.2	+	3	587	c.219G>T	c.(217-219)agG>agT	p.R73S	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545102.1_Intron	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					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)	TAGAGAGAAGGTTTGATATCC	0.393																																						ENST00000381552.1																			0				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						c.(217-219)agG>agT		solute carrier organic anion transporter family, member 1C1							216	175	189					12																	20854341		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20854341G>T	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.219G>T	12.37:g.20854341G>T	ENSP00000266509:p.Arg73Ser					SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S	p.R73S			Q9NYB5	SO1C1_HUMAN			3	587	+	Esophageal squamous(101;0.149)		73					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.219G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611539	0.66558	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.09	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	H	0.95611	3.695	0.45205	D	0.998213	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.995	T	0.76691	-0.2866	10	0.87932	D	0	.	6.9954	0.24779	0.3913:0.0:0.6087:0.0	.	73;73;73	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	S	73	ENSP00000444149:R73S;ENSP00000438665:R73S;ENSP00000266509:R73S;ENSP00000370964:R73S	ENSP00000266509:R73S	R	+	3	2	SLCO1C1	20745608	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.428000	0.21395	0.740000	0.32651	0.655000	0.94253	AGG		0.393	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		35	417	1	0	2.47316e-13	1	2.55994e-13	35	417					T	20854341	G	T	20854341	3	4	81	1	0	0	0	0	1	0	0	0	14775	1252	44	3	225	3	SLCO1C1	12	20854341	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	12653783	20854341	112997554	82	32198											
ABCC9	10060	broad.mit.edu	37	chr12	21997786	21997786	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	catccattctacagtgagggAtgtaacaaggcaaaggaaaa	10	7	1	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:21997786A>T	ENST00000261201.4	-	25	3159	c.3160T>A	c.(3160-3162)Tcc>Acc	p.S1054T	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1054T|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1054	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		S -> Y (in HTOCD). {ECO:0000269|PubMed:22610116}.		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)	ACAGTGAGGGATGTAACAAGG	0.413																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3160-3162)Tcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						142	139	140					12																	21997786		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997786A>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3160T>A	12.37:g.21997786A>T	ENSP00000261201:p.Ser1054Thr					ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.S1054T	p.S1054T	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			25	3159	-			1054			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3160T>A	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803647	0.70682	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.278617	0.37393	N	0.002119	D	0.87877	0.6288	L	0.35723	1.085	0.58432	D	0.999994	B;B	0.32382	0.368;0.291	B;B	0.39152	0.292;0.091	D	0.85757	0.1347	10	0.30854	T	0.27	-13.5709	15.2233	0.73330	1.0:0.0:0.0:0.0	.	1054;1054	O60706;O60706-2	ABCC9_HUMAN;.	T	1054;681;1054;1018	ENSP00000261200:S1054T;ENSP00000440521:S681T;ENSP00000261201:S1054T;ENSP00000261202:S1018T	ENSP00000261200:S1054T	S	-	1	0	ABCC9	21889053	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.092000	0.94157	1.985000	0.57927	0.528000	0.53228	TCC		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		42	387	0	0	0	1	0	42	387					T	21997786	A	T	21997786	3	4	81	1	0	0	0	0	1	0	0	0	59	333	12	5	1687	5	ABCC9	12	21997786	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	1143445	21997786	111854109	83	32199											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	88	1	0	0.0381472	1	0.0384733	7	88					A	25398284	C	A	25398284	3	1	81	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-7885-01A-11D-2154-08	3400498	25398284	108453611	84	32200											
CLIP1	6249	broad.mit.edu	37	chr12	122812693	122812694	+	Frame_Shift_Ins	INS	-	-	T													ctgacactggttgtggcttgINStttccattttcttttcctgc					rs77289752	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:122812693_122812694insT	ENST00000540338.1	-	16	3090_3091	c.3049_3050insA	c.(3049-3051)acafs	p.T1017fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T971fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.T592fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T895fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.T1006fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTTGTGGCTTGTTTCCATTTTC	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3016-3018)aagfs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812693_122812694insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3050dupA	12.37:g.122812696_122812696dupT	ENSP00000439093:p.Thr1017fs					CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs	p.K1006fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3170_3171	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1017					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3016_3017insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		7	913						7	913	---	---	---	---	T	122812694	-	T	122812693	7	5	81	1	0	1	1	0	0	0	0	0	3541	1377	48	0	1306	0	CLIP1	12	122812693	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08	97414409	122812693	11039202	85	32201											
SNRNP35	11066	broad.mit.edu	37	chr12	123950525	123950525	+	Frame_Shift_Del	DEL	A	A	-													cttggaggcggtcttgggggAaaaaaggagtctgggcaact							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:123950525delA	ENST00000526639.2	+	2	1017	c.438delA	c.(436-438)ggafs	p.G146fs	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	146					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GTCTTGGGGGAAAAAAGGAGT	0.502																																						ENST00000526639.2																			0				NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(436-438)ggfs		small nuclear ribonucleoprotein 35kDa (U11/U12)							64	75	71					12																	123950525		2203	4300	6503	SO:0001589	frameshift_variant	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950525delA	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"RNA binding motif (RRM) containing"	30852	protein-coding gene	gene with protein product	"U1 snRNP binding protein homolog"					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.438delA	12.37:g.123950525delA	ENSP00000432595:p.Gly146fs					SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs	p.G146fs	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	1017	+			146					A8K262|Q5XKN9	Frame_Shift_Del	DEL	ENST00000526639.2	37	c.438delA	CCDS9249.1																																																																																				0.502	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		7	508						7	508	---	---	---	---	-	123950525	A	-	123950525	7	5	81	1	0	1	0	1	0	0	0	0	14905	233	9	0	459	0	SNRNP35	12	123950525	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	1137832	123950525	9901370	86	32202											
ZIC2	7546	broad.mit.edu	37	chr13	100635045	100635045	+	Frame_Shift_Del	DEL	T	T	-													accaccaccaccccggtgccTttttccgctatatgcggcag							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr13:100635045delT	ENST00000376335.3	+	1	1020	c.727delT	c.(727-729)tttfs	p.F244fs		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	244	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				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)					ccCCGGTGCCTTTTTCCGCTA	0.562																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(727-729)ttfs		Zic family member 2							52	58	56					13																	100635045		2203	4300	6503	SO:0001589	frameshift_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635045delT	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.727delT	13.37:g.100635045delT	ENSP00000365514:p.Phe244fs						p.F244fs	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1020	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		244			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Frame_Shift_Del	DEL	ENST00000376335.3	37	c.727delT	CCDS9495.1																																																																																				0.562	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		7	444						7	444	---	---	---	---	-	100635045	T	-	100635045	7	5	81	1	0	1	0	1	0	0	0	0	17732	1609	56	0	729	0	ZIC2	13	100635045	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08		100635045	14534833	87	32203											
NIN	51199	broad.mit.edu	37	chr14	51288700	51288700	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgccccagggacccTgtgcccgtcgtgtcaaaact	9	17	1	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:51288700T>G	ENST00000382041.3	-	3	265	c.75A>C	c.(73-75)acA>acC	p.T25T	RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T|NIN_ENST00000324330.9_Silent_p.T25T|NIN_ENST00000245441.5_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	25	EF-hand 1. {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)					CCAGGGACCCTGTGCCCGTCG	0.582			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				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						c.(73-75)acA>acC		ninein (GSK3B interacting protein)							259	236	244					14																	51288700		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51288700T>G	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.75A>C	14.37:g.51288700T>G						NIN_ENST00000389868.3_Silent_p.T25T|NIN_ENST00000382041.3_Silent_p.T25T|NIN_ENST00000324330.9_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T	p.T25T	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			3	265	-	all_epithelial(31;0.00244)|Breast(41;0.127)		25			EF-hand 1.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.75A>C	CCDS32079.1																																																																																				0.582	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		111	1125	0	0	0	1	0	111	1125					G	51288700	T	G	51288700	2	3	81	1	0	0	0	0	0	0	0	1	10459	1567	55	4		4	NIN	14	51288700	Silent	SNP	T	TCGA-IB-7885-01A-11D-2154-08		51288700	56060840	88	32204											
SYNE2	23224	broad.mit.edu	37	chr14	64486773	64486773	+	Frame_Shift_Del	DEL	T	T	-													gaagagtggctgaaatacagTttttgctccaaagcagtgaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:64486773delT	ENST00000344113.4	+	35	5325	c.5113delT	c.(5113-5115)tttfs	p.F1705fs	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.F1705fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.F1705fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1705					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)		TGAAATACAGTTTTTGCTCCA	0.303																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(5113-5115)ttfs		spectrin repeat containing, nuclear envelope 2							65	66	66					14																	64486773		1805	4069	5874	SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64486773delT	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.5113delT	14.37:g.64486773delT	ENSP00000341781:p.Phe1705fs					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.F1705fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.F1705fs	p.F1705fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	35	5343	+			1705					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	c.5113delT	CCDS41963.1																																																																																				0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	395						7	395	---	---	---	---	-	64486773	T	-	64486773	7	5	81	1	0	1	0	1	0	0	0	0	15498	1725	60	0	5247	0	SYNE2	14	64486773	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	13198073	64486773	42862767	89	32205											
ACAN	176	broad.mit.edu	37	chr15	89386782	89386782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggcccggcccaactgCggtggcaacctcctgggcgt	13	16	0	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:89386782C>T	ENST00000561243.1	+	5	954	c.954C>T	c.(952-954)tgC>tgT	p.C318C	ACAN_ENST00000352105.7_Silent_p.C318C|ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000439576.2_Silent_p.C318C|ACAN_ENST00000559004.1_Silent_p.C318C			P16112	PGCA_HUMAN	aggrecan	318	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCCAACTGCGGTGGCAACC	0.677																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(952-954)tgC>tgT		aggrecan							29	33	31					15																	89386782		2066	4189	6255	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386782C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.954C>T	15.37:g.89386782C>T						ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000561243.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C|ACAN_ENST00000559004.1_Silent_p.C318C	p.C318C	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1328	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		318					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.954C>T	CCDS53970.1																																																																																				0.677	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		11	189	0	0	0	1	0	11	189					T	89386782	C	T	89386782	2	4	81	1	0	0	0	0	0	0	0	1	117	776	27	1		1	ACAN	15	89386782	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08		89386782	13144610	90	32206											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	480						7	480	---	---	---	---	-	1824300	TGC	-	1824298	7	5	81	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-7885-01A-11D-2154-08		1824298	88530455	91	32207											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129|rs372299573	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		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.S159G(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)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(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						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	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.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		24	288						24	288	---	---	---	---	-	51175658	GCT	-	51175656	7	5	81	1	0	1	0	1	0	0	0	0	13860	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-IB-7885-01A-11D-2154-08	49351358	51175656	39179097	92	32208											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	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						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	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.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	353						8	353	---	---	---	---	-	69726422	CAG	-	69726420	7	5	81	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-IB-7885-01A-11D-2154-08	18550764	69726420	20628333	93	32209											
CA5A	763	broad.mit.edu	37	chr16	87936054	87936055	+	Frame_Shift_Del	DEL	CC	CC	-													taaaaacacgcctatcacagCcaaaccattctctcccacga					rs553134866		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr16:87936054_87936055delCC	ENST00000309893.2	-	4	596_597	c.531_532delGG	c.(529-534)ttggctfs	p.LA177fs		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	177					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	CCTATCACAGCCAAACCATTCT	0.376																																						ENST00000309893.2																			0				large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(529-534)ttctfs		carbonic anhydrase VA, mitochondrial																																				SO:0001589	frameshift_variant	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87936054_87936055delCC	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"Carbonic anhydrases"	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.531_532delGG	16.37:g.87936054_87936055delCC	ENSP00000309649:p.Leu177fs						p.LA177fs	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	4	596_597	-			177					B2RPF2	Frame_Shift_Del	DEL	ENST00000309893.2	37	c.531_532delGG	CCDS10965.1																																																																																				0.376	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		8	424						8	424	---	---	---	---	-	87936055	CC	-	87936054	7	5	81	1	0	1	0	1	0	0	0	0	2526	739	26	0	401	0	CA5A	16	87936054	Frame_Shift_Del	DEL	CC	TCGA-IB-7885-01A-11D-2154-08	18209634	87936054	2418699	94	32210											
ACE	1636	broad.mit.edu	37	chr17	61560495	61560495	+	Frame_Shift_Del	DEL	C	C	-													gggggtctttagtgggcgtaCccccccttcccgctacaact							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:61560495delC	ENST00000290866.4	+	9	1472	c.1448delC	c.(1447-1449)accfs	p.T483fs	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000538928.1_Intron|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	483	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)	AGTGGGCGTACCCCCCCTTCC	0.562																																						ENST00000290866.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1447-1449)acfs		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						128	138	134					17																	61560495		2203	4300	6503	SO:0001589	frameshift_variant	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61560495delC	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.1448delC	17.37:g.61560495delC	ENSP00000290866:p.Thr483fs					ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000538928.1_Intron	p.T483fs	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			9	1472	+			483			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Frame_Shift_Del	DEL	ENST00000290866.4	37	c.1448delC	CCDS11637.1																																																																																				0.562	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	1268						7	1268	---	---	---	---	-	61560495	C	-	61560495	7	5	81	1	0	1	0	1	0	0	0	0	136	507	18	0	1482	0	ACE	17	61560495	Frame_Shift_Del	DEL	C	TCGA-IB-7885-01A-11D-2154-08		61560495	19634715	95	32211											
MRPL12	6182	broad.mit.edu	37	chr17	79673938	79673938	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctttcctgctccctaaggcGgtggaagaagatatccccat	9	12	1	2	rs140892819		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:79673938G>A	ENST00000333676.3	+	4	493	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SLC25A10_ENST00000541223.1_Silent_p.A116A|SLC25A10_ENST00000571730.1_Silent_p.A116A	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	116					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCCCTAAGGCGGTGGAAGAAG	0.577																																						ENST00000571730.1																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(346-348)gcG>gcA		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)	A		1,4405	2.1+/-5.4	0,1,2202	60	51	54		348	-7.6	0	17	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		116/199	79673938	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79673938G>A	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"Mitochondrial ribosomal proteins / large subunits"	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.348G>A	17.37:g.79673938G>A						SLC25A10_ENST00000541223.1_Silent_p.A116A|MRPL12_ENST00000333676.3_Silent_p.A116A	p.A116A			Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	479	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP	ENST00000333676.3	37	c.348G>A	CCDS11785.1																																																																																				0.577	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	NM_002949		12	153	0	0	0	1	0	12	153					A	79673938	G	A	79673938	2	1	81	1	0	0	0	0	0	0	0	1	9818	1103	39	1		1	MRPL12	17	79673938	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	18113443	79673938	1521272	96	32212											
DSC1	1823	broad.mit.edu	37	chr18	28736086	28736086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccatcgtctcttgctgcGcttgagggctgtgtctttgg	13	11	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:28736086G>A	ENST00000257198.5	-	4	652	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.R131C	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	131					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R131C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTTGCTGCGCTTGAGGGCT	0.418																																						ENST00000257197.3																			2	Substitution - Missense(2)	p.R131C(2)	large_intestine(2)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(391-393)Cgc>Tgc		desmocollin 1							141	119	127					18																	28736086		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28736086G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.391C>T	18.37:g.28736086G>A	ENSP00000257198:p.Arg131Cys					DSC1_ENST00000257198.5_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA	p.R131C	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		4	652	-			131					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.391C>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435632	0.83885	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.63744	-0.06;-0.06	5.66	3.76	0.43208	Cadherin-like (1);	0.277613	0.24083	N	0.041706	T	0.80732	0.4679	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.60609	0.791;0.877	D	0.86178	0.1604	10	0.87932	D	0	.	14.689	0.69070	0.0:0.0:0.74:0.26	.	131;131	Q08554;Q9HB00	DSC1_HUMAN;.	C	131	ENSP00000257197:R131C;ENSP00000257198:R131C	ENSP00000257197:R131C	R	-	1	0	DSC1	26990084	0.989000	0.36119	0.953000	0.39169	0.987000	0.75469	2.123000	0.41996	1.502000	0.48669	0.655000	0.94253	CGC		0.418	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		11	347	0	0	0	1	0	11	347					A	28736086	G	A	28736086	3	1	81	1	0	0	0	0	1	0	0	0	4781	1087	38	1	2385	1	DSC1	18	28736086	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		28736086	49341162	97	32213											
FBXO15	201456	broad.mit.edu	37	chr18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctcttggtgaagagattgcGaaatgtaccacataggtaga	11	6	1	3	rs144253482		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:71790624G>A	ENST00000419743.2	-	8	1196	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	FBXO15_ENST00000269500.5_Missense_Mutation_p.R297C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373						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)		AAGAGATTGCGAAATGTACCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15347	0.0		0.0	False		,,,				2504	0.001					ENST00000269500.5																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(889-891)Cgc>Tgc		F-box protein 15		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	76	76		1117,889	4.6	0	18	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO15	NM_001142958.1,NM_152676.2	180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	373/511,297/435	71790624	2,13004	2203	4300	6503	SO:0001583	missense	201456							g.chr18:71790624G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1117C>T	18.37:g.71790624G>A	ENSP00000393154:p.Arg373Cys					FBXO15_ENST00000419743.2_Missense_Mutation_p.R373C	p.R297C	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.143)	8	1224	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	297					B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	c.889C>T	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822669	0.32237	2.27E-4	1.16E-4	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.88;0.88	5.45	4.58	0.56647	.	0.718217	0.13850	N	0.358421	T	0.50837	0.1639	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.50490	0.642;0.549	T	0.46775	-0.9167	10	0.87932	D	0	-24.4827	14.1359	0.65287	0.0:0.1514:0.8486:0.0	.	373;297	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	297;373	ENSP00000269500:R297C;ENSP00000393154:R373C	ENSP00000269500:R297C	R	-	1	0	FBXO15	69941604	0.793000	0.28825	0.007000	0.13788	0.007000	0.05969	1.823000	0.39062	1.290000	0.44636	0.655000	0.94253	CGC		0.428	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676		24	270	0	0	0	1	0	24	270					A	71790624	G	A	71790624	3	1	81	1	0	0	0	0	1	0	0	0	5753	1058	37	1	427	1	FBXO15	18	71790624	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	43054538	71790624	6286624	98	32214											
KIR3DL3	115653	broad.mit.edu	37	chr19	55247491	55247491	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacgcacagttgaatcactgCgttttcacacagagaaaaat	7	9	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55247491C>T	ENST00000291860.1	+	8	1179	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	KIR2DL3_ENST00000434419.2_5'Flank|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000342376.3_5'Flank|KIR2DL4_ENST00000396284.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	387						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGAATCACTGCGTTTTCACAC	0.517																																						ENST00000291860.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21						c.(1159-1161)tgC>tgT		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3							31	38	36					19																	55247491		1799	3817	5616	SO:0001819	synonymous_variant	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55247491C>T	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1161C>T	19.37:g.55247491C>T						KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron	p.C387C	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1179	+			387					A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Silent	SNP	ENST00000291860.1	37	c.1161C>T	CCDS12903.1																																																																																				0.517	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		56	254	0	0	0	1	0	56	254					T	55247491	C	T	55247491	2	4	81	1	0	0	0	0	0	0	0	1	8352	776	27	1		1	KIR3DL3	19	55247491	Silent	SNP	C	TCGA-IB-7885-01A-11D-2154-08		55247491	3881492	99	32215											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506266	44506266	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgccagatgtcccaggccGtactggatgaggatctcttc	11	12	2	2			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:44506266G>A	ENST00000255152.2	+	2	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	357							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)				GTCCCAGGCCGTACTGGATGA	0.522																																						ENST00000255152.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1069-1071)Gta>Ata		zinc finger, SWIM-type containing 3							73	70	71					20																	44506266		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506266G>A	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.1069G>A	20.37:g.44506266G>A	ENSP00000255152:p.Val357Ile					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	p.V357I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN			2	1278	+		Myeloproliferative disorder(115;0.0122)	357					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.1069G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	g	3.393	-0.123988	0.06795	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.21734	2.01;1.99	5.65	2.64	0.31445	.	0.413487	0.22779	N	0.055752	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	B;B	0.24882	0.048;0.113	B;B	0.13407	0.006;0.009	T	0.33854	-0.9852	10	0.16896	T	0.51	-3.9801	6.6767	0.23098	0.12:0.4609:0.3521:0.067	.	351;357	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	357;351	ENSP00000255152:V357I;ENSP00000406313:V351I	ENSP00000255152:V357I	V	+	1	0	ZSWIM3	43939673	0.000000	0.05858	0.265000	0.24526	0.985000	0.73830	-0.175000	0.09825	0.464000	0.27142	-0.123000	0.14984	GTA		0.522	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		20	338	0	0	0	1	0	20	338					A	44506266	G	A	44506266	3	1	81	1	0	0	0	0	1	0	0	0	18295	1145	40	1	1075	1	ZSWIM3	20	44506266	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08		44506266	18519254	100	32216											
RTEL1	51750	broad.mit.edu	37	chr20	62292776	62292776	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagattgccgagagggcGcaaggagagcttttcccgga	15	10	0	3	rs116624637		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:62292776G>A	ENST00000360203.5	+	3	553	c.228G>A	c.(226-228)gcG>gcA	p.A76A	RTEL1_ENST00000318100.4_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000370018.3_Silent_p.A76A					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)			CCGAGAGGGCGCAAGGAGAGC	0.637																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(226-228)gcG>gcA		regulator of telomere elongation helicase 1							70	64	66					20																	62292776		2203	4300	6503	SO:0001819	synonymous_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62292776G>A	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.228G>A	20.37:g.62292776G>A						RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Silent_p.A76A	p.A76A			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		3	1055	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		76			Helicase ATP-binding.			Silent	SNP	ENST00000360203.5	37	c.228G>A																																																																																					0.637	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		14	229	0	0	0	1	0	14	229					A	62292776	G	A	62292776	2	1	81	1	0	0	0	0	0	0	0	1	13770	1074	38	1		1	RTEL1	20	62292776	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08	17786510	62292776	732744	101	32217											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		9	172						9	172	---	---	---	---	-	27394184	GTG	-	27394182	7	5	81	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-IB-7885-01A-11D-2154-08		27394182	20735713	102	32218											
SNAP29	9342	broad.mit.edu	37	chr22	21213614	21213614	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtacgagtccgagaaGgttggggtcgcctcttccga	13	11	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:21213614G>A	ENST00000215730.7	+	1	344	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PI4KA_ENST00000255882.6_5'Flank|PI4KA_ENST00000572273.1_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	72					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-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;0.000592)|Lung(15;0.0117)			AGTCCGAGAAGGTTGGGGTCG	0.637																																						ENST00000215730.6																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9						c.(214-216)aaG>aaA		synaptosomal-associated protein, 29kDa							26	27	27					22																	21213614		2200	4295	6495	SO:0001819	synonymous_variant	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21213614G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"soluble 29 kDa NSF attachment protein"	604202	"synaptosomal-associated protein, 29kD"			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.216G>A	22.37:g.21213614G>A							p.K72K	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		1	344	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	72						Silent	SNP	ENST00000215730.7	37	c.216G>A	CCDS13784.1																																																																																				0.637	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	NM_004782		10	120	0	0	0	1	0	10	120					A	21213614	G	A	21213614	2	1	81	1	0	0	0	0	0	0	0	1	14881	991	35	2		2	SNAP29	22	21213614	Silent	SNP	G	TCGA-IB-7885-01A-11D-2154-08		21213614	30090952	103	32219											
HMGXB4	10042	broad.mit.edu	37	chr22	35661575	35661576	+	Frame_Shift_Del	DEL	AG	AG	-													aaaaaagaagagaaggacaaAgagagagagagaggagaaaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:35661575_35661576delAG	ENST00000216106.5	+	5	1322_1323	c.1194_1195delAG	c.(1192-1197)aaagagfs	p.E399fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E290fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	399					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						agaaggacaaagagagagagag	0.465																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1192-1197)aaagfs		HMG box domain containing 4																																				SO:0001589	frameshift_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35661575_35661576delAG	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1194_1195delAG	22.37:g.35661585_35661586delAG	ENSP00000216106:p.Glu399fs					HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.KE289fs	p.KE398fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	1322_1323	+			398					O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	c.1194_1195delAG	CCDS33641.1																																																																																				0.465	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		7	112						7	112	---	---	---	---	-	35661576	AG	-	35661575	7	5	81	1	0	1	0	1	0	0	0	0	7269	69	3	0	1208	0	HMGXB4	22	35661575	Frame_Shift_Del	DEL	AG	TCGA-IB-7885-01A-11D-2154-08	14447961	35661575	15642991	104	32220											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-													ggatggcctggtagttgtggTgctgctgctgctgctggttg					rs200555648	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	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.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.66	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	250						7	250	---	---	---	---	-	40816889	TGC	-	40816887	7	5	81	1	0	1	0	1	0	0	0	0	9642	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-IB-7885-01A-11D-2154-08	5155312	40816887	10487679	105	32221											
EP300	2033	broad.mit.edu	37	chr22	41533755	41533755	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggaaacagtggcacgaagAtattactcaggatcttcgaa	10	8	2	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41533755A>G	ENST00000263253.7	+	8	2940	c.1721A>G	c.(1720-1722)gAt>gGt	p.D574G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	574	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						TGGCACGAAGATATTACTCAG	0.438			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"T,  N, F, Mis, O"	300 kd E1A-Binding protein gene			"L, E"	"MLL, RUNXBP2"		"colorectal, breast, pancreatic, AML, ALL, DLBCL"		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1720-1722)gAt>gGt		E1A binding protein p300							112	94	100					22																	41533755		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41533755A>G	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.1721A>G	22.37:g.41533755A>G	ENSP00000263253:p.Asp574Gly						p.D574G	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			8	2940	+			574			KIX.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.1721A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391655	0.83011	.	.	ENSG00000100393	ENST00000263253	D	0.83591	-1.74	5.85	5.85	0.93711	Coactivator CBP, KIX (4);	0.000000	0.47852	D	0.000203	T	0.77870	0.4195	N	0.03608	-0.345	0.54753	D	0.999982	P	0.46987	0.888	P	0.58620	0.842	T	0.78183	-0.2303	10	0.20046	T	0.44	-11.8926	16.2444	0.82434	1.0:0.0:0.0:0.0	.	574	Q09472	EP300_HUMAN	G	574	ENSP00000263253:D574G	ENSP00000263253:D574G	D	+	2	0	EP300	39863701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.233000	0.73108	0.455000	0.32223	GAT		0.438	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		29	335	0	0	0	1	0	29	335					G	41533755	A	G	41533755	3	3	81	1	0	0	0	0	1	0	0	0	5166	333	12	4	1751	4	EP300	22	41533755	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	716868	41533755	9770811	106	32222											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-													cggtgccaccccagaagcccCtgctgctgctgccaccgcca							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	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						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		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.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.65	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		8	846						8	846	---	---	---	---	-	41753401	CTG	-	41753399	7	5	81	1	0	1	0	1	0	0	0	0	17626	681	24	0	2986	0	ZC3H7B	22	41753399	In_Frame_Del	DEL	CTG	TCGA-IB-7885-01A-11D-2154-08	219644	41753399	9551167	107	32223											
ASB11	140456	broad.mit.edu	37	chrX	15333659	15333660	+	Frame_Shift_Ins	INS	-	-	A													ctttaattaaaagcttaaagINSaaaaaaaacgtagcaaacat							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:15333659_15333660insA	ENST00000480796.1	-	1	118_119	c.68_69insT	c.(67-69)ttcfs	p.F23fs	ASB11_ENST00000537676.1_5'Flank|ASB11_ENST00000344384.4_5'Flank|ASB11_ENST00000380470.3_Frame_Shift_Ins_p.F23fs			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	23					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)					AAAGCTTAAAGAAAAAAAACGT	0.342																																						ENST00000380470.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16						c.(67-69)tttfs		ankyrin repeat and SOCS box containing 11																																				SO:0001589	frameshift_variant	0				intracellular signal transduction			g.chrX:15333659_15333660insA	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.69dupT	X.37:g.15333667_15333667dupA	ENSP00000417914:p.Phe23fs					ASB11_ENST00000480796.1_Frame_Shift_Ins_p.F23fs	p.F23fs	NM_001201583.1|NM_080873.2	NP_001188512.1|NP_543149.1	Q8WXH4	ASB11_HUMAN			1	86_87	-	Hepatocellular(33;0.183)		23					E9PEN1|Q3SYC4|Q7Z667	Frame_Shift_Ins	INS	ENST00000480796.1	37	c.68_69insT	CCDS14164.1																																																																																				0.342	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			8	549						8	549	---	---	---	---	A	15333660	-	A	15333659	7	5	81	1	0	1	1	0	0	0	0	0	1016	933	33	0	1052	0	ASB11	23	15333659	Frame_Shift_Ins	INS	-	TCGA-IB-7885-01A-11D-2154-08		15333659	139936901	108	32224											
RAI2	10742	broad.mit.edu	37	chrX	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-													gccgttatttactttcttggAaaaaaggtggccagccgttg							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)tttfs	p.F527fs	RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1579-1581)ttfs		retinoic acid induced 2							182	201	195					X																	17818550		2203	4300	6503	SO:0001589	frameshift_variant	10742				embryo development			g.chrX:17818550delA	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1581delT	X.37:g.17818550delA	ENSP00000444210:p.Phe527fs					RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs	p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	2041	-	Hepatocellular(33;0.183)		527					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Del	DEL	ENST00000545871.1	37	c.1581delT	CCDS14183.1																																																																																				0.333	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		7	2264						7	2264	---	---	---	---	-	17818550	A	-	17818550	7	5	81	1	0	1	0	1	0	0	0	0	13059	243	9	0	15	0	RAI2	23	17818550	Frame_Shift_Del	DEL	A	TCGA-IB-7885-01A-11D-2154-08	2484891	17818550	137452010	109	32225											
ZNF673	55634	broad.mit.edu	37	chrX	46332385	46332385	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aatattattcgtgggaaaagGcattcaaaacatcatttaaa	6	5	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:46332385G>C	ENST00000344302.4	+	6	1085	c.454G>C	c.(454-456)Gca>Cca	p.A152P	KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000298190.6_Missense_Mutation_p.A147P	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	152					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										GTGGGAAAAGGCATTCAAAAC	0.338																																						ENST00000344302.4																			0											c.(454-456)Gca>Cca		KRAB box domain containing 4							62	55	57					X																	46332385		2203	4300	6503	SO:0001583	missense	55634							g.chrX:46332385G>C		CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"-"	26007	protein-coding gene	gene with protein product	"hypothetical protein FLJ20344"	300585	"zinc finger protein 673", "zinc finger family member 673"	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.454G>C	X.37:g.46332385G>C	ENSP00000345797:p.Ala152Pro					KRBOX4_ENST00000298190.6_Missense_Mutation_p.A147P|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000478600.1_Intron	p.A152P	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2					6	1085	+								A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	ENST00000344302.4	37	c.454G>C	CCDS48097.1	.	.	.	.	.	.	.	.	.	.	G	0.196	-1.048919	0.01981	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00808	5.67;5.81	1.83	-0.221	0.13126	.	.	.	.	.	T	0.00608	0.0020	N	0.14661	0.345	0.20074	N	0.999931	B;B	0.30361	0.182;0.277	B;B	0.20955	0.014;0.032	T	0.47394	-0.9121	9	0.40728	T	0.16	.	2.7527	0.05285	0.1688:0.0:0.3345:0.4967	.	152;147	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	P	152;147;152	ENSP00000345797:A152P;ENSP00000298190:A147P	ENSP00000298190:A147P	A	+	1	0	ZNF673	46217329	0.000000	0.05858	0.009000	0.14445	0.061000	0.15899	-0.063000	0.11655	-0.151000	0.11176	-0.330000	0.08379	GCA		0.338	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056359.2	NM_017776		23	208	0	0	0	1	0	23	208					C	46332385	G	C	46332385	3	2	81	1	0	0	0	0	1	0	0	0	18133	1203	42	5	516	5	ZNF673	23	46332385	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	28513835	46332385	108938175	110	32226											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		6	102	0	0	0	1	0	6	102					A	57619097	G	A	57619097	3	1	81	1	0	0	0	0	1	0	0	0	18304	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	11286712	57619097	97651463	111	32227											
TAF1	6872	broad.mit.edu	37	chrX	70627893	70627893	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatcatcactcggccaAtggacctacaaacactccgc	5	15	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70627893A>G	ENST00000373790.4	+	28	4324	c.4273A>G	c.(4273-4275)Atg>Gtg	p.M1425V	TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000449580.1_Missense_Mutation_p.M1425V|TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V	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	1425	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACTCGGCCAATGGACCTACA	0.468																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(4273-4275)Atg>Gtg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							190	132	152					X																	70627893		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70627893A>G		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.4273A>G	X.37:g.70627893A>G	ENSP00000362895:p.Met1425Val					TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000373790.4_Missense_Mutation_p.M1425V	p.M1425V			P21675	TAF1_HUMAN			28	4324	+	Renal(35;0.156)	all_lung(315;0.000321)	1425			Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.4273A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293716	0.60086	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.17	2.92	0.33932	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.89715	3.055	0.58432	D	0.99999	P;D;D	0.61080	0.939;0.989;0.964	P;P;P	0.62560	0.708;0.904;0.647	T	0.58934	-0.7548	10	0.72032	D	0.01	.	9.3206	0.37962	0.8382:0.0:0.0:0.1618	.	1425;1425;1446	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	V	1425;1425;1446;131;131;1446	ENSP00000362895:M1425V;ENSP00000389000:M1425V;ENSP00000406549:M1446V;ENSP00000276072:M1446V	ENSP00000276072:M1446V	M	+	1	0	TAF1	70544618	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.757000	0.91657	1.535000	0.49220	0.345000	0.21793	ATG		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		33	410	0	0	0	1	0	33	410					G	70627893	A	G	70627893	3	3	81	1	0	0	0	0	1	0	0	0	15565	101	4	4	4446	4	TAF1	23	70627893	Missense_Mutation	SNP	A	TCGA-IB-7885-01A-11D-2154-08	13008796	70627893	84642667	112	32228											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171	156	161					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	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.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		11	1056						11	1056	---	---	---	---	-	108619355	T	-	108619355	7	5	81	1	0	1	0	1	0	0	0	0	6928	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-IB-7885-01A-11D-2154-08	37991462	108619355	46651205	113	32229											
AFF2	2334	broad.mit.edu	37	chrX	148044334	148044334	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagaggaccctccacgccGcagaaatgtcagtggcaata	11	13	1	2	rs140927355	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:148044334G>A	ENST00000370460.2	+	13	3259	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	AFF2_ENST00000342251.3_Missense_Mutation_p.R894H|AFF2_ENST00000370457.5_Missense_Mutation_p.R894H|AFF2_ENST00000286437.5_Missense_Mutation_p.R568H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	927					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)					CCTCCACGCCGCAGAAATGTC	0.438													G|||	3	0.000794702	0.0	0.0	3775	,	,		13394	0.0		0.0	False		,,,				2504	0.0031					ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2779-2781)cGc>cAc		AF4/FMR2 family, member 2		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,0,1632,571	82	74	77		2681,2750,2675,2663,1703,2780	5.9	1	X	dbSNP_134	77	6,6722		0,4,2,2424,1870	yes	missense,missense,missense,missense,missense,missense	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_001170628.1,NM_002025.3	29,29,29,29,29,29	0,4,2,4056,2441	AA,AG,A,GG,G		0.0892,0.0,0.0568	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	894/1277,917/1302,892/1277,888/1273,568/953,927/1312	148044334	6,10557	2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148044334G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2780G>A	X.37:g.148044334G>A	ENSP00000359489:p.Arg927His					AFF2_ENST00000370457.5_Missense_Mutation_p.R894H|AFF2_ENST00000342251.3_Missense_Mutation_p.R894H|AFF2_ENST00000286437.5_Missense_Mutation_p.R568H	p.R927H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			13	3259	+	Acute lymphoblastic leukemia(192;6.56e-05)		927					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2780G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785581	0.90282	0.0	8.92E-4	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.87	5.87	0.94306	.	0.251509	0.38111	N	0.001805	T	0.78780	0.4337	M	0.65975	2.015	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	D;D;D;D;D;D	0.91635	0.999;0.998;0.998;0.998;0.998;0.999	T	0.79361	-0.1835	10	0.62326	D	0.03	.	18.2409	0.89967	0.0:0.0:1.0:0.0	.	568;892;894;888;917;927	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	927;894;894;568	ENSP00000359489:R927H;ENSP00000359486:R894H;ENSP00000345459:R894H;ENSP00000286437:R568H	ENSP00000286437:R568H	R	+	2	0	AFF2	147852030	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.552000	0.53705	2.618000	0.88619	0.600000	0.82982	CGC		0.438	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		36	256	0	0	0	1	0	36	256					A	148044334	G	A	148044334	3	1	81	1	0	0	0	0	1	0	0	0	357	1087	38	1	2885	1	AFF2	23	148044334	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	39424979	148044334	7226226	114	32230											
PLXNB3	5365	broad.mit.edu	37	chrX	153035996	153035996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctaggtgtcgcgcttgcGtgggcagcatctggcggtgt	16	11	2	0			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:153035996G>A	ENST00000361971.5	+	10	2023	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V660M|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	637	PSI 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCGCTTGCGTGGGCAGCAT	0.677																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1978-1980)Gtg>Atg		plexin B3							30	29	29					X																	153035996		2191	4291	6482	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153035996G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1909G>A	X.37:g.153035996G>A	ENSP00000355378:p.Val637Met					PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M|PLXNB3_ENST00000361971.5_Missense_Mutation_p.V637M	p.V660M	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			11	2249	+	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)		637					B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.1978G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812203	0.50527	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.73789	4.84;4.8;4.25;-0.78	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.85630	2.765	0.37423	D	0.9137	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.90934	0.4792	10	0.66056	D	0.02	.	15.3352	0.74247	0.0:0.0:1.0:0.0	.	290;319;660;637	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	660;637;290;247	ENSP00000442736:V660M;ENSP00000355378:V637M;ENSP00000445569:V290M;ENSP00000441919:V247M	ENSP00000355378:V637M	V	+	1	0	PLXNB3	152689190	1.000000	0.71417	0.991000	0.47740	0.032000	0.12392	3.590000	0.53979	2.212000	0.71576	0.525000	0.51046	GTG		0.677	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			9	117	0	0	0	1	0	9	117					A	153035996	G	A	153035996	3	1	81	1	0	0	0	0	1	0	0	0	12167	1145	40	1	2061	1	PLXNB3	23	153035996	Missense_Mutation	SNP	G	TCGA-IB-7885-01A-11D-2154-08	4991662	153035996	2234564	115	32231											
CAMTA1	23261	broad.mit.edu	37	chr1	7796575	7796575	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccagggctatgccaccCtaatccagaccctcatcaaa	6	17	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:7796575C>T	ENST00000303635.7	+	13	3445	c.3238C>T	c.(3238-3240)Cta>Tta	p.L1080L	CAMTA1_ENST00000439411.2_Silent_p.L1080L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1080					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)		CTATGCCACCCTAATCCAGAC	0.607			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				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						c.(3238-3240)Cta>Tta		calmodulin binding transcription activator 1							95	91	92					1																	7796575		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7796575C>T	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.3238C>T	1.37:g.7796575C>T						CAMTA1_ENST00000439411.2_Silent_p.L1080L	p.L1080L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		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)	13	3445	+	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)	1080					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3238C>T	CCDS30576.1																																																																																				0.607	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		24	566	0	0	0	0.083992	0	24	566					T	7796575	C	T	7796575	2	4	82	1	0	0	0	0	0	0	0	1	2620	680	24	2		2	CAMTA1	1	7796575	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08		7796575	241454046	1	32232											
VPS13D	55187	broad.mit.edu	37	chr1	12423195	12423195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgttccactggcctcGgaatgactatgatcagctat	11	9	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:12423195G>A	ENST00000358136.3	+	52	10470	c.10340G>A	c.(10339-10341)cGg>cAg	p.R3447Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R3447Q(1)		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)		CACTGGCCTCGGAATGACTAT	0.453																																						ENST00000358136.3																			1	Substitution - Missense(1)	p.R3447Q(1)	prostate(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10339-10341)cGg>cAg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							254	221	232					1																	12423195		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12423195G>A	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.10340G>A	1.37:g.12423195G>A	ENSP00000350854:p.Arg3447Gln					VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q	p.R3447Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	52	10470	+	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)	3446						Missense_Mutation	SNP	ENST00000358136.3	37	c.10340G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.752959|5.752959	0.96890|0.96890	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.33438	.|1.41;1.41	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Vacuolar protein sorting-associated protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.994;1.0	.|D;D	.|0.87578	.|0.956;0.998	T|T	0.35943|0.35943	-0.9768|-0.9768	5|10	.|0.31617	.|T	.|0.26	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3422;3446	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	R|Q	2269|3422;3447	.|ENSP00000348666:R3422Q;ENSP00000350854:R3447Q	.|ENSP00000348666:R3422Q	G|R	+|+	1|2	0|0	VPS13D|VPS13D	12345782|12345782	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.863000|0.863000	0.49368|0.49368	9.434000|9.434000	0.97515|0.97515	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		16	438	0	0	0	0.132662	0	16	438					A	12423195	G	A	12423195	3	1	82	1	0	0	0	0	1	0	0	0	17246	1116	39	1	10542	1	VPS13D	1	12423195	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	4626620	12423195	236827426	2	32233											
EPB41	2035	broad.mit.edu	37	chr1	29314163	29314163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgaccaagaacaaggagCggacatcagaaagcagagga	12	8	1	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:29314163C>T	ENST00000343067.4	+	2	341	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.R72W|EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	72					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAACAAGGAGCGGACATCAGA	0.453																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(214-216)Cgg>Tgg		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							166	159	161					1																	29314163		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314163C>T	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.214C>T	1.37:g.29314163C>T	ENSP00000345259:p.Arg72Trp					EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000398863.2_Missense_Mutation_p.R72W	p.R72W	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	341	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	72					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.214C>T	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179746	0.78564	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.85258	-1.96;-1.95;-1.78;-1.69;-1.96;-1.94	5.6	5.6	0.85130	.	0.070962	0.56097	D	0.000035	D	0.89150	0.6633	L	0.32530	0.975	0.44500	D	0.997445	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.988;0.999;1.0;0.999	D	0.90061	0.4156	10	0.72032	D	0.01	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	72;72;72;72;72	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	W	89;72;72;72;72;72;72;72;72	ENSP00000345259:R72W;ENSP00000348397:R72W;ENSP00000381839:R72W;ENSP00000290100:R72W;ENSP00000362904:R72W;ENSP00000362903:R72W	ENSP00000345259:R72W	R	+	1	2	EPB41	29186750	0.998000	0.40836	0.978000	0.43139	0.926000	0.56050	3.068000	0.50018	2.633000	0.89246	0.650000	0.86243	CGG		0.453	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		6	946	0	0	0	0.02938	0	6	946					T	29314163	C	T	29314163	3	4	82	1	0	0	0	0	1	0	0	0	5169	759	27	1	216	1	EPB41	1	29314163	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	16890968	29314163	219936458	3	32234											
PPT1	5538	broad.mit.edu	37	chr1	40539758	40539758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaatggtatgatgtggGcataaaaccattcttcagac	10	7	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:40539758G>A	ENST00000433473.3	-	9	1360	c.896C>T	c.(895-897)gCc>gTc	p.A299V	PPT1_ENST00000530076.1_Missense_Mutation_p.A80V|PPT1_ENST00000449045.2_Missense_Mutation_p.A196V|PPT1_ENST00000372775.2_5'UTR	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	299					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)			TATGATGTGGGCATAAAACCA	0.483																																						ENST00000433473.3																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11						c.(895-897)gCc>gTc		palmitoyl-protein thioesterase 1							189	181	183					1																	40539758		2203	4300	6503	SO:0001583	missense	5538				brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	g.chr1:40539758G>A	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.896C>T	1.37:g.40539758G>A	ENSP00000394863:p.Ala299Val					PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000530076.1_Missense_Mutation_p.A80V|PPT1_ENST00000449045.2_Missense_Mutation_p.A196V	p.A299V	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	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)		9	1360	-	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)	299					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.896C>T	CCDS447.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636756	0.29068	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000439754;ENST00000530076	D;D;D;D	0.97404	-4.37;-4.37;-3.51;-4.37	5.78	3.84	0.44239	.	0.619388	0.16981	N	0.191714	D	0.95541	0.8551	L	0.59436	1.845	0.20196	N	0.999925	B;B;B	0.29571	0.249;0.119;0.01	B;B;B	0.32583	0.024;0.148;0.007	D	0.89878	0.4028	10	0.51188	T	0.08	-0.8945	12.7764	0.57451	0.0:0.0:0.5698:0.4302	.	196;225;299	P50897-2;B4DWU3;P50897	.;.;PPT1_HUMAN	V	299;196;170;80	ENSP00000394863:A299V;ENSP00000392293:A196V;ENSP00000403207:A170V;ENSP00000434007:A80V	ENSP00000394863:A299V	A	-	2	0	PPT1	40312345	0.795000	0.28851	1.000000	0.80357	0.476000	0.33039	1.039000	0.30266	0.720000	0.32209	-0.182000	0.12963	GCC		0.483	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		6	821	0	0	0	0.02938	0	6	821					A	40539758	G	A	40539758	3	1	82	1	0	0	0	0	1	0	0	0	12458	1203	42	2	28	2	PPT1	1	40539758	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	11225595	40539758	208710863	4	32235											
PTPRF	5792	broad.mit.edu	37	chr1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggagaggagcagcGgcggcggcggcggcaggcag	23	10	0	1	rs377569778	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					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)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15712	0.0		0.0	False		,,,				2504	0.0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3520-3522)cGg>cAg		protein tyrosine phosphatase, receptor type, F		G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41	52	48		3521,3494	2.1	1	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071948G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln					PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1174					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3521G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	557	0	0	0	0.02938	0	7	557					A	44071948	G	A	44071948	3	1	82	1	0	0	0	0	1	0	0	0	12851	1116	39	1	3591	1	PTPRF	1	44071948	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	3532190	44071948	205178673	5	32236											
NBPF10	100132406	broad.mit.edu	37	chr1	145359110	145359110	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggttgtcttgaactgtGtgactcatgccagccctaca	9	11	3	2	rs4058802	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:145359110G>C	ENST00000342960.5	+	72	9085	c.9050G>C	c.(9049-9051)tGt>tCt	p.C3017S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTGAACTGTGTGACTCATGC	0.488													.|||	515	0.102835	0.1831	0.1311	5008	,	,		9674	0.0347		0.0775	False		,,,				2504	0.0706					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)tGt>tCt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359110G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9050G>C	1.37:g.145359110G>C	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9085	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9050G>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.347446	0.00219	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00384	0.0012	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.42732	-0.9434	5	0.02654	T	1	.	.	.	.	rs4058802	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	2	0	NBPF10	144070467	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.804000	0.04535	-1.251000	0.02494	-1.858000	0.00562	TGT		0.488	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	303	0	0	0	0.043863	0	5	303					C	145359110	G	C	145359110	3	2	82	1	0	0	0	0	1	0	0	0	10234	1377	48	5	9336	5	NBPF10	1	145359110	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	101287162	145359110	103891511	6	32237											
HAX1	10456	broad.mit.edu	37	chr1	154246357	154246357	+	Frame_Shift_Del	DEL	G	G	-													gtcaccagcccaggatctttGggggggtcttggagagtgat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:154246357delG	ENST00000328703.7	+	3	637	c.424delG	c.(424-426)gggfs	p.G143fs	HAX1_ENST00000483970.2_Frame_Shift_Del_p.G151fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.G95fs|HAX1_ENST00000532105.1_Frame_Shift_Del_p.G15fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	143	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGATCTTTGGGGGGGTCTT	0.552									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(424-426)ggfs		HCLS1 associated protein X-1							91	97	95					1																	154246357		2203	4300	6503	SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246357delG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.424delG	1.37:g.154246357delG	ENSP00000329002:p.Gly143fs					HAX1_ENST00000483970.2_Frame_Shift_Del_p.G151fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.G95fs|HAX1_ENST00000532105.1_Frame_Shift_Del_p.G15fs	p.G143fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		143			Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Del	DEL	ENST00000328703.7	37	c.424delG	CCDS1064.1																																																																																				0.552	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		7	916						7	916	---	---	---	---	-	154246357	G	-	154246357	7	5	82	1	0	1	0	1	0	0	0	0	7005	1348	47	0	434	0	HAX1	1	154246357	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	8887247	154246357	95004264	7	32238											
OR10Z1	128368	broad.mit.edu	37	chr1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-													gaatgctctctggcctggctGggggggaccaggctatctcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:158576487delG	ENST00000361284.1	+	1	259	c.259delG	c.(259-261)gggfs	p.G88fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88						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)					TGGCCTGGCTGGGGGGGACCA	0.552																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(259-261)ggfs		olfactory receptor, family 10, subfamily Z, member 1							183	191	188					1																	158576487		2203	4300	6503	SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576487delG	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.259delG	1.37:g.158576487delG	ENSP00000354707:p.Gly88fs						p.G88fs	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	259	+	all_hematologic(112;0.0378)		88					Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	c.259delG	CCDS30901.1																																																																																				0.552	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		7	1254						7	1254	---	---	---	---	-	158576487	G	-	158576487	7	5	82	1	0	1	0	1	0	0	0	0	10965	1348	47	0	261	0	OR10Z1	1	158576487	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	4330130	158576487	90674134	8	32239											
TNN	63923	broad.mit.edu	37	chr1	175086325	175086325	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagagcaagaaggctgaCaccaaggcccagacaggtaa	13	10	0	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:175086325C>T	ENST00000239462.4	+	10	2483	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	790	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)		AGAAGGCTGACACCAAGGCCC	0.537																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2368-2370)gaC>gaT		tenascin N							85	85	85					1																	175086325		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086325C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2370C>T	1.37:g.175086325C>T							p.D790D	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2483	+		Breast(1374;0.000962)	790			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2370C>T	CCDS30943.1																																																																																				0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		19	479	0	0	0	0.043863	0	19	479					T	175086325	C	T	175086325	2	4	82	1	0	0	0	0	0	0	0	1	16375	477	17	2		2	TNN	1	175086325	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	16509838	175086325	74164296	9	32240											
PAPPA2	60676	broad.mit.edu	37	chr1	176525710	176525710	+	Frame_Shift_Del	DEL	G	G	-													tacctaaggccctaccccgtGggggagcaagaaatccatca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:176525710delG	ENST00000367662.3	+	2	1416	c.252delG	c.(250-252)gtgfs	p.V84fs	PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.V84fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	84					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						CCTACCCCGTGGGGGAGCAAG	0.567																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(250-252)gtfs		pappalysin 2							129	121	124					1																	176525710		1958	4142	6100	SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525710delG	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.252delG	1.37:g.176525710delG	ENSP00000356634:p.Val84fs					PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.V84fs	p.V84fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1416	+			84					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Del	DEL	ENST00000367662.3	37	c.252delG	CCDS41438.1																																																																																				0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			7	1302						7	1302	---	---	---	---	-	176525710	G	-	176525710	7	5	82	1	0	1	0	1	0	0	0	0	11475	1335	47	0	254	0	PAPPA2	1	176525710	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	1439385	176525710	72724911	10	32241											
HMCN1	83872	broad.mit.edu	37	chr1	185931765	185931765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgcctggaccgttaaCgatatgtttatcgtgggttc	11	7	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				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						GGACCGTTAACGATATGTTTA	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1942-1944)aaC>aaT		hemicentin 1							207	190	196					1																	185931765		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931765C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	1.37:g.185931765C>T						HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	p.N648N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2173	+			648			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1944C>T	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	390	0	0	0	0.058154	0	9	390					T	185931765	C	T	185931765	2	4	82	1	0	0	0	0	0	0	0	1	7250	535	19	1		1	HMCN1	1	185931765	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	9406055	185931765	63318856	11	32242											
PRG4	10216	broad.mit.edu	37	chr1	186276027	186276027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagtctgcacccaccacTcccaaggagcctgcacccac	6	20	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186276027T>C	ENST00000445192.2	+	7	1221	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	392	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						CACCCACCACTCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1174-1176)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276027T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1176T>C	1.37:g.186276027T>C						PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T	p.T392T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1221	+			392			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1176T>C	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		24	836	0	0	0	0.139131	0	24	836					C	186276027	T	C	186276027	2	2	82	1	0	0	0	0	0	0	0	1	12528	1538	54	4		4	PRG4	1	186276027	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	344262	186276027	62974594	12	32243											
PRG4	10216	broad.mit.edu	37	chr1	186277098	186277098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccaccacctgtgacaagccCgctccaactacccctaaggg	7	18	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186277098C>T	ENST00000445192.2	+	7	2292	c.2247C>T	c.(2245-2247)ccC>ccT	p.P749P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P708P|PRG4_ENST00000367486.3_Silent_p.P706P|PRG4_ENST00000367485.4_Silent_p.P656P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	749	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						GTGACAAGCCCGCTCCAACTA	0.607																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2245-2247)ccC>ccT		proteoglycan 4							174	192	186					1																	186277098		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277098C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2247C>T	1.37:g.186277098C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P708P|PRG4_ENST00000367486.3_Silent_p.P706P|PRG4_ENST00000367485.4_Silent_p.P656P	p.P749P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2292	+			749			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2247C>T	CCDS1369.1																																																																																				0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	1116	0	0	0	0.09319	0	8	1116					T	186277098	C	T	186277098	2	4	82	1	0	0	0	0	0	0	0	1	12528	639	23	1		1	PRG4	1	186277098	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	1071	186277098	62973523	13	32244											
ACBD3	64746	broad.mit.edu	37	chr1	226352490	226352491	+	Splice_Site	INS	-	-	T													ccatgccctcaaacttcaccINStttttttttcttgctcttcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.568_569insA	c.(568-570)agg>aAgg	p.R190fs		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e3+1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226352490_226352491insT	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.569+1->A	1.37:g.226352499_226352499dupT							p.E190_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	3	622_623	-	Breast(184;0.158)		190			Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	INS	ENST00000366812.5	37	c.569_splice	CCDS1551.1																																																																																				0.411	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Frame_Shift_Ins	7	311						7	311	---	---	---	---	T	226352491	-	T	226352490	8	5	82	1	0	1	1	0	0	0	1	0	123	695	24	0	1041	0	ACBD3	1	226352490	Splice_Site	INS	-	TCGA-IB-8126-01A-11D-2396-08	40075392	226352490	22898131	14	32245											
SNAP47	116841	broad.mit.edu	37	chr1	227968309	227968309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccctggatggcgttgcaGcagctgtggacagggcaacc	15	11	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:227968309G>A	ENST00000366759.4	+	5	1744	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	444	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGCGTTGCAGCAGCTGTGGA	0.597																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1330-1332)Gca>Aca		synaptosomal-associated protein, 47kDa							147	115	126					1																	227968309		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227968309G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1330G>A	1.37:g.227968309G>A	ENSP00000355721:p.Ala444Thr					SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T	p.A444T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			5	1744	+			444			t-SNARE coiled-coil homology 2.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.1330G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.565409	0.00903	.	.	ENSG00000143740	ENST00000366760;ENST00000366759	T;T	0.42513	0.97;2.28	4.67	-2.54	0.06307	Target SNARE coiled-coil domain (1);	0.884135	0.10124	N	0.713045	T	0.17109	0.0411	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.28681	-1.0036	10	0.10636	T	0.68	-15.287	4.493	0.11822	0.3799:0.0:0.2016:0.4185	.	444	Q5SQN1	SNP47_HUMAN	T	202;444	ENSP00000355722:A202T;ENSP00000355721:A444T	ENSP00000355721:A444T	A	+	1	0	SNAP47	226034932	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.403000	0.07214	-0.674000	0.05253	-0.258000	0.10820	GCA		0.597	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		5	335	0	0	0	0.014758	0	5	335					A	227968309	G	A	227968309	3	1	82	1	0	0	0	0	1	0	0	0	14882	971	34	2	1348	2	SNAP47	1	227968309	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1615819	227968309	21282312	15	32246											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	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)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	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	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	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					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			16	516						16	516	---	---	---	---	-	26693556	CTT	-	26693554	7	5	82	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-IB-8126-01A-11D-2396-08		26693554	216505819	16	32247											
ALK	238	broad.mit.edu	37	chr2	30143012	30143012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aatccaccaactgaacagctCgctgagattgaactggagca	9	11	0	3			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:30143012C>T	ENST00000389048.3	-	1	1420	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ALK_ENST00000431873.1_Missense_Mutation_p.E172K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	172					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)	CTGAACAGCTCGCTGAGATTG	0.647			"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																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"T, Mis, A"	anaplastic lymphoma kinase (Ki-1)			"L, E, M"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	neuroblastoma	"ALCL, NSCLC, Neuroblastoma"	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)	0				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						c.(514-516)Gag>Aag		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						26	32	30					2																	30143012		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30143012C>T	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.514G>A	2.37:g.30143012C>T	ENSP00000373700:p.Glu172Lys					ALK_ENST00000431873.1_Missense_Mutation_p.E172K	p.E172K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			1	1420	-	Acute lymphoblastic leukemia(172;0.155)		172					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.514G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585036	0.66105	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.80033	-1.33;2.7	5.33	5.33	0.75918	.	.	.	.	.	T	0.69886	0.3161	N	0.24115	0.695	0.32250	N	0.571579	B	0.28258	0.205	B	0.19666	0.026	T	0.68503	-0.5391	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	172	Q9UM73	ALK_HUMAN	K	172	ENSP00000373700:E172K;ENSP00000414027:E172K	.	E	-	1	0	ALK	29996516	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.012000	0.40932	2.652000	0.90054	0.655000	0.94253	GAG		0.647	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		6	248	0	0	0	0.038147	0	6	248					T	30143012	C	T	30143012	3	4	82	1	0	0	0	0	1	0	0	0	525	893	31	1	4464	1	ALK	2	30143012	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	3449458	30143012	213056361	17	32248											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	658						7	658	---	---	---	---	-	64778674	GAT	-	64778672	7	5	82	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-IB-8126-01A-11D-2396-08	34635660	64778672	178420701	18	32249											
MFSD9	84804	broad.mit.edu	37	chr2	103335481	103335481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggttcttcatgttccGcaaggccaacactacttcga	8	13	2	0	rs144200432	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:103335481G>A	ENST00000258436.5	-	6	866	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	275					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TTCATGTTCCGCAAGGCCAAC	0.557													G|||	5	0.000998403	0.0008	0.0	5008	,	,		20033	0.004		0.0	False		,,,				2504	0.0					ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(823-825)Cgg>Tgg		major facilitator superfamily domain containing 9							99	79	86					2																	103335481		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335481G>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.823C>T	2.37:g.103335481G>A	ENSP00000258436:p.Arg275Trp						p.R275W	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			6	866	-			275					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.823C>T	CCDS2063.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.25	2.181450	0.38511	.	.	ENSG00000135953	ENST00000258436	D	0.83250	-1.7	4.97	1.47	0.22746	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.665977	0.15409	N	0.263908	T	0.71745	0.3376	L	0.34521	1.04	0.09310	N	1	B	0.18013	0.025	B	0.17098	0.017	T	0.62062	-0.6933	10	0.52906	T	0.07	-5.4226	7.0595	0.25117	0.0938:0.0:0.3214:0.5847	.	275	Q8NBP5	MFSD9_HUMAN	W	275	ENSP00000258436:R275W	ENSP00000258436:R275W	R	-	1	2	MFSD9	102701913	0.437000	0.25593	0.068000	0.19968	0.045000	0.14185	1.372000	0.34261	0.571000	0.29365	0.644000	0.83932	CGG		0.557	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		7	432	0	0	0	0.02938	0	7	432					A	103335481	G	A	103335481	3	1	82	1	0	0	0	0	1	0	0	0	9580	1086	38	1	605	1	MFSD9	2	103335481	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	38556809	103335481	139863892	19	32250											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				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)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				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						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	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.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		7	262						7	262	---	---	---	---	-	128046946	TCT	-	128046944	7	5	82	1	0	1	0	1	0	0	0	0	5232	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-IB-8126-01A-11D-2396-08	24711463	128046944	115152429	20	32251											
UPP2	151531	broad.mit.edu	37	chr2	158971631	158971631	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtctgtgtcggtgggAgccccaacagaatgaaagca	13	8	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:158971631A>G	ENST00000005756.4	+	3	393	c.199A>G	c.(199-201)Agc>Ggc	p.S67G	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.S124G|UPP2_ENST00000605860.1_Missense_Mutation_p.S124G	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	67					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|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)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TGTCGGTGGGAGCCCCAACAG	0.428																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(370-372)Agc>Ggc		uridine phosphorylase 2							86	88	87					2																	158971631		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158971631A>G	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.199A>G	2.37:g.158971631A>G	ENSP00000005756:p.Ser67Gly					UPP2_ENST00000409859.4_Missense_Mutation_p.S124G|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.S67G	p.S124G			O95045	UPP2_HUMAN			6	416	+			67					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.370A>G	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270039	0.80469	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.88975	-2.45;-2.45	5.44	5.44	0.79542	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	M	0.87038	2.855	0.80722	D	1	D	0.63880	0.993	P	0.50617	0.646	D	0.93817	0.7115	10	0.87932	D	0	.	14.3298	0.66548	1.0:0.0:0.0:0.0	.	67	O95045	UPP2_HUMAN	G	124;67	ENSP00000387230:S124G;ENSP00000005756:S67G	ENSP00000005756:S67G	S	+	1	0	UPP2	158679877	1.000000	0.71417	0.996000	0.52242	0.684000	0.39900	7.331000	0.79192	2.065000	0.61736	0.533000	0.62120	AGC		0.428	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		31	330	0	0	0	0.139131	0	31	330					G	158971631	A	G	158971631	3	3	82	1	0	0	0	0	1	0	0	0	17067	304	11	4	388	4	UPP2	2	158971631	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	30924687	158971631	84227742	21	32252											
FIGN	55137	broad.mit.edu	37	chr2	164466495	164466495	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcagccgaagttagtAcagtgtccagttgcatcaga	11	10	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:164466495A>G	ENST00000333129.3	-	3	2161	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	616					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						CGAAGTTAGTACAGTGTCCAG	0.423																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1846-1848)gTa>gCa		fidgetin							116	110	112					2																	164466495		1958	4157	6115	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466495A>G	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.1847T>C	2.37:g.164466495A>G	ENSP00000333836:p.Val616Ala					FIGN_ENST00000409634.1_Intron	p.V616A	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2161	-			616					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1847T>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	4.122	0.020814	0.08006	.	.	ENSG00000182263	ENST00000333129	D	0.94897	-3.55	5.77	5.77	0.91146	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.062004	0.64402	D	0.000004	D	0.93324	0.7872	L	0.27975	0.815	0.58432	D	0.999999	P	0.41366	0.747	P	0.55161	0.77	D	0.90675	0.4601	10	0.08837	T	0.75	-17.6067	16.0953	0.81117	1.0:0.0:0.0:0.0	.	616	Q5HY92	FIGN_HUMAN	A	616	ENSP00000333836:V616A	ENSP00000333836:V616A	V	-	2	0	FIGN	164174741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.116000	0.71571	2.204000	0.70986	0.383000	0.25322	GTA		0.423	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		13	481	0	0	0	0.160694	0	13	481					G	164466495	A	G	164466495	3	3	82	1	0	0	0	0	1	0	0	0	5916	391	14	4	436	4	FIGN	2	164466495	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	5494864	164466495	78732878	22	32253											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-													caagaacatgactatttcaaGggggggactgatgcagtgtg					rs567294324		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					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)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				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						c.(1675-1677)agfs		integrin, alpha V							249	235	239					2																	187521085		2203	4300	6503	SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521085delG		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.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs					ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|AC017101.10_ENST00000453665.1_RNA	p.R559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	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)	17	1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	ENST00000261023.3	37	c.1676delG	CCDS2292.1																																																																																				0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		8	996						8	996	---	---	---	---	-	187521085	G	-	187521085	7	5	82	1	0	1	0	1	0	0	0	0	7918	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	23054590	187521085	55678288	23	32254											
WDFY1	57590	broad.mit.edu	37	chr2	224758990	224758990	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttccacactgcaattccGccgtccgaggaacaggagac	10	13	0	1	rs374953968		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:224758990G>A	ENST00000233055.4	-	8	894	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	264						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAATTCCGCCGTCCGAGG	0.557																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(790-792)ggC>ggT		WD repeat and FYVE domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	174	129	145		792	-5	0.9	2		145	0,8600		0,0,4300	no	coding-synonymous	WDFY1	NM_020830.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		264/411	224758990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224758990G>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.792C>T	2.37:g.224758990G>A							p.G264G	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	8	894	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	264					Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	c.792C>T	CCDS33387.1																																																																																				0.557	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		8	302	0	0	0	0.047766	0	8	302					A	224758990	G	A	224758990	2	1	82	1	0	0	0	0	0	0	0	1	17322	1074	38	1		1	WDFY1	2	224758990	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	37237905	224758990	18440383	24	32255											
NUP210	23225	broad.mit.edu	37	chr3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-													ggcctggatcttcagctccaGgggggagtcctccaggtaga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:13438890delG	ENST00000254508.5	-	3	485	c.403delC	c.(403-405)ctgfs	p.L135fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	135					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)					TTCAGCTCCAGGGGGGAGTCC	0.602																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(403-405)tgfs		nucleoporin 210kDa							70	64	66					3																	13438890		2203	4300	6503	SO:0001589	frameshift_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13438890delG	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.403delC	3.37:g.13438890delG	ENSP00000254508:p.Leu135fs						p.L135fs	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			3	485	-	all_neural(104;0.187)		135					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Frame_Shift_Del	DEL	ENST00000254508.5	37	c.403delC	CCDS33704.1																																																																																				0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		7	409						7	409	---	---	---	---	-	13438890	G	-	13438890	7	5	82	1	0	1	0	1	0	0	0	0	10802	991	35	0	5412	0	NUP210	3	13438890	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08		13438890	184583540	25	32256											
THRB	7068	broad.mit.edu	37	chr3	24231773	24231773	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcctactagcttccagtcGtgttctcggtctggacagtg	10	11	2	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:24231773G>A	ENST00000356447.4	-	4	359	c.75C>T	c.(73-75)caC>caT	p.H25H	THRB_ENST00000396671.2_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	25	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCTTCCAGTCGTGTTCTCGGT	0.493																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(73-75)caC>caT		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						177	159	165					3																	24231773		2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24231773G>A		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.75C>T	3.37:g.24231773G>A						THRB_ENST00000356447.4_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	p.H25H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			5	423	-			25			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.75C>T	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669381	0.14776	.	.	ENSG00000151090	ENST00000416811	.	.	.	5.93	2.09	0.27110	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.38566	D	0.949829	.	.	.	.	.	.	T	0.64236	-0.6455	5	0.87932	D	0	.	8.5522	0.33458	0.0713:0.5866:0.2416:0.1005	.	.	.	.	M	25	.	ENSP00000414401:T25M	T	-	2	0	THRB	24206777	0.992000	0.36948	0.664000	0.29753	0.990000	0.78478	0.216000	0.17585	0.095000	0.17434	-0.175000	0.13238	ACG		0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		5	404	0	0	0	0.014758	0	5	404					A	24231773	G	A	24231773	2	1	82	1	0	0	0	0	0	0	0	1	15927	1136	40	1		1	THRB	3	24231773	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	10792883	24231773	173790657	26	32257											
NKTR	4820	broad.mit.edu	37	chr3	42679764	42679764	+	Frame_Shift_Del	DEL	A	A	-													gaacgggaatgccctcattcAaaaaaaagaactttgaaaga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:42679764delA	ENST00000232978.8	+	13	2756	c.2568delA	c.(2566-2568)tcafs	p.S856fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	856					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)		GCCCTCATTCAAAAAAAAGAA	0.373																																						ENST00000232978.8																			0				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						c.(2566-2568)tcfs		natural killer-tumor recognition sequence							44	49	47					3																	42679764		2191	4295	6486	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679764delA		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.2568delA	3.37:g.42679764delA	ENSP00000232978:p.Ser856fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.S856fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2756	+			856						Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2568delA	CCDS2702.1																																																																																				0.373	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	411						7	411	---	---	---	---	-	42679764	A	-	42679764	7	5	82	1	0	1	0	1	0	0	0	0	10490	117	5	0	2614	0	NKTR	3	42679764	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	18447991	42679764	155342666	27	32258											
CELSR3	1951	broad.mit.edu	37	chr3	48685385	48685385	+	Frame_Shift_Del	DEL	C	C	-													gtagcgagggtagcgacgggCcccccggggagaactggggt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:48685385delC	ENST00000164024.4	-	20	7298	c.7018delG	c.(7018-7020)gccfs	p.A2340fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.A2345fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2340					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)		TAGCGACGGGCCCCCCGGGGA	0.632																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7033-7035)ccfs		cadherin, EGF LAG seven-pass G-type receptor 3							103	114	110					3																	48685385		2203	4299	6502	SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685385delC	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.7018delG	3.37:g.48685385delC	ENSP00000164024:p.Ala2340fs					CELSR3_ENST00000164024.4_Frame_Shift_Del_p.A2340fs	p.A2345fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7313	-			2340					O75092	Frame_Shift_Del	DEL	ENST00000164024.4	37	c.7033delG	CCDS2775.1																																																																																				0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	1161						7	1161	---	---	---	---	-	48685385	C	-	48685385	7	5	82	1	0	1	0	1	0	0	0	0	3232	739	26	0	2984	0	CELSR3	3	48685385	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	6005621	48685385	149337045	28	32259											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				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)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				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						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	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.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		9	1461						9	1461	---	---	---	---	-	66436627	GCT	-	66436625	7	5	82	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-IB-8126-01A-11D-2396-08	17751240	66436625	131585805	29	32260											
ATG3	64422	broad.mit.edu	37	chr3	112267472	112267472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattccatctgtttgcacCgcttatagcacggcactata	6	11	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:112267472C>T	ENST00000283290.5	-	5	685	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.R84Q	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	84					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTGTTTGCACCGCTTATAGCA	0.378																																						ENST00000402314.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						c.(250-252)cGg>cAg		autophagy related 3							129	115	119					3																	112267472		2203	4299	6502	SO:0001583	missense	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112267472C>T		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.251G>A	3.37:g.112267472C>T	ENSP00000283290:p.Arg84Gln					ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.R84Q	p.R84Q			Q9NT62	ATG3_HUMAN			5	638	-			84					Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	c.251G>A	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539479	0.96474	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.32	5.32	0.75619	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.93638	3.44	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.982;0.974	D	0.90176	0.4239	9	0.87932	D	0	0.0444	18.5844	0.91183	0.0:1.0:0.0:0.0	.	84;84	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	Q	84	.	ENSP00000283290:R84Q	R	-	2	0	ATG3	113750162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.416000	0.66417	2.482000	0.83794	0.591000	0.81541	CGG		0.378	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		7	211	0	0	0	0.02938	0	7	211					T	112267472	C	T	112267472	3	4	82	1	0	0	0	0	1	0	0	0	1096	652	23	1	725	1	ATG3	3	112267472	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	45830847	112267472	85754958	30	32261											
ARHGAP31	57514	broad.mit.edu	37	chr3	119128441	119128441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcccaggagccaggcGcccacctggaggagaagaaa	14	13	0	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:119128441G>A	ENST00000264245.4	+	11	2276	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	582					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCCAGGCGCCCACCTGGA	0.542																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1744-1746)Gcc>Acc		Rho GTPase activating protein 31							33	36	35					3																	119128441		1883	4107	5990	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119128441G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1744G>A	3.37:g.119128441G>A	ENSP00000264245:p.Ala582Thr						p.A582T	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			11	2276	+			582					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1744G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477473	0.01035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05925	3.37	5.27	-10.5	0.00291	.	1.661360	0.03193	N	0.173588	T	0.02083	0.0065	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.02654	T	1	.	5.8933	0.18925	0.5415:0.2715:0.1077:0.0793	.	582	Q2M1Z3	RHG31_HUMAN	T	582	ENSP00000264245:A582T	ENSP00000264245:A582T	A	+	1	0	ARHGAP31	120611131	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.506000	0.00448	-3.278000	0.00198	-1.594000	0.00841	GCC		0.542	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			8	154	0	0	0	0.058154	0	8	154					A	119128441	G	A	119128441	3	1	82	1	0	0	0	0	1	0	0	0	880	1087	38	1	1786	1	ARHGAP31	3	119128441	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	6860969	119128441	78893989	31	32262											
IFT122	55764	broad.mit.edu	37	chr3	129221571	129221571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggttgatcgacatcgcccGcaaactggacaaggctgagc	12	12	0	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:129221571G>A	ENST00000348417.2	+	20	2470	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Missense_Mutation_p.R849H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	798					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						GACATCGCCCGCAAACTGGAC	0.597																																						ENST00000296266.3																			0				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						c.(2545-2547)cGc>cAc		intraflagellar transport 122 homolog (Chlamydomonas)							106	103	104					3																	129221571		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129221571G>A	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.2393G>A	3.37:g.129221571G>A	ENSP00000324005:p.Arg798His					IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H	p.R849H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			21	2738	+			798					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2546G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455763	0.96223	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.65364	0.5;-0.15;-0.01;0.07;0.64;0.66;0.48;0.07;0.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.998;0.994;0.997;1.0;1.0	D;D;D;P;D;D;P;P;D;D	0.81914	0.966;0.995;0.988;0.875;0.993;0.948;0.624;0.792;0.925;0.966	T	0.80919	-0.1167	10	0.59425	D	0.04	-14.9855	20.422	0.99049	0.0:0.0:1.0:0.0	.	589;124;790;185;674;638;687;739;798;849	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	739;849;790;739;648;674;687;798;638;589;295;160	ENSP00000323973:R739H;ENSP00000296266:R849H;ENSP00000425536:R790H;ENSP00000410946:R648H;ENSP00000422179:R674H;ENSP00000324165:R687H;ENSP00000324005:R798H;ENSP00000401569:R589H;ENSP00000424727:R295H	ENSP00000296266:R849H	R	+	2	0	IFT122	130704261	1.000000	0.71417	0.965000	0.40720	0.817000	0.46193	9.587000	0.98229	2.832000	0.97577	0.655000	0.94253	CGC		0.597	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		6	856	0	0	0	0.021553	0	6	856					A	129221571	G	A	129221571	3	1	82	1	0	0	0	0	1	0	0	0	7585	1087	38	1	2628	1	IFT122	3	129221571	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	10093130	129221571	68800859	32	32263											
COL6A6	131873	broad.mit.edu	37	chr3	130284081	130284081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tatacagaacctttctccccGaactgggaaggcctatactg	8	12	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:130284081G>A	ENST00000358511.6	+	3	936	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	302	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 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						CTTTCTCCCCGAACTGGGAAG	0.478																																						ENST00000358511.6																			0				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						c.(904-906)cGa>cAa		collagen, type VI, alpha 6							68	71	70					3																	130284081		1860	4096	5956	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284081G>A	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.905G>A	3.37:g.130284081G>A	ENSP00000351310:p.Arg302Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q	p.R302Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	936	+			302			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.905G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169073	0.01660	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	5.01	-2.32	0.06745	von Willebrand factor, type A (3);	1.188040	0.06089	N	0.663415	T	0.57036	0.2026	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38178	-0.9673	10	0.26408	T	0.33	.	12.8264	0.57723	0.4013:0.0:0.5987:0.0	.	302	A6NMZ7	CO6A6_HUMAN	Q	302	ENSP00000351310:R302Q;ENSP00000399236:R302Q	ENSP00000351310:R302Q	R	+	2	0	COL6A6	131766771	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.959000	0.03853	-0.497000	0.06641	-0.459000	0.05422	CGA		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		11	429	0	0	0	0.069234	0	11	429					A	130284081	G	A	130284081	3	1	82	1	0	0	0	0	1	0	0	0	3712	1058	37	1	915	1	COL6A6	3	130284081	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1062510	130284081	67738349	33	32264											
SLITRK3	22865	broad.mit.edu	37	chr3	164906329	164906331	+	In_Frame_Del	DEL	CCT	CCT	-													ttgggctgatgaaacagccaCctcctcctcctcacgaggct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:164906329_164906331delCCT	ENST00000475390.1	-	2	2731_2733	c.2288_2290delAGG	c.(2287-2292)gaggtg>gtg	p.E763del	SLITRK3_ENST00000241274.3_In_Frame_Del_p.E763del			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	763					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						GAAACAGCCACCTCCTCCTCCTC	0.581										HNSCC(40;0.11)																												ENST00000475390.1																			0				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						c.(2287-2292)gtg>g		SLIT and NTRK-like family, member 3																																				SO:0001651	inframe_deletion	22865					integral to membrane		g.chr3:164906329_164906331delCCT	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.2288_2290delAGG	3.37:g.164906338_164906340delCCT	ENSP00000420091:p.Glu763del	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_In_Frame_Del_p.EV763del	p.EV763del			O94933	SLIK3_HUMAN			2	2731_2733	-			763					Q1RMY6	In_Frame_Del	DEL	ENST00000475390.1	37	c.2288_2290delAGG	CCDS3197.1																																																																																				0.581	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	569						7	569	---	---	---	---	-	164906331	CCT	-	164906329	7	5	82	1	0	1	0	1	0	0	0	0	14794	507	18	0	647	0	SLITRK3	3	164906329	In_Frame_Del	DEL	CCT	TCGA-IB-8126-01A-11D-2396-08	34622248	164906329	33116101	34	32265											
LRRIQ4	344657	broad.mit.edu	37	chr3	169539979	169539979	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aggagcctgtgcccggcgctGgggctgctgagcagcctgga	18	12	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:169539979G>T	ENST00000340806.6	+	1	270	c.270G>T	c.(268-270)ctG>ctT	p.L90L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	90										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCCGGCGCTGGGGCTGCTGA	0.567																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(268-270)ctG>ctT		leucine-rich repeats and IQ motif containing 4							68	74	72					3																	169539979		1945	4130	6075	SO:0001819	synonymous_variant	344657							g.chr3:169539979G>T		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.270G>T	3.37:g.169539979G>T							p.L90L	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	270	+			90						Silent	SNP	ENST00000340806.6	37	c.270G>T	CCDS46951.1																																																																																				0.567	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		10	632	1	0	0.0809354	0.080935	0.0826501	10	632					T	169539979	G	T	169539979	2	4	82	1	0	0	0	0	0	0	0	1	9069	1335	47	3		3	LRRIQ4	3	169539979	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	4633650	169539979	28482451	35	32266											
MUC20	200958	broad.mit.edu	37	chr3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaccaacagcagccgaGggacgaacagcaccttagcc	9	15	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:195453332G>A	ENST00000447234.2	+	2	1984	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000320736.6_Missense_Mutation_p.G449R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1345-1347)Ggg>Agg		mucin 20, cell surface associated																																				SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453332G>A	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1858G>A	3.37:g.195453332G>A	ENSP00000414350:p.Gly620Arg					MUC20_ENST00000447234.2_Missense_Mutation_p.G620R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R	p.G449R	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	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)	3	1471	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	620					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1345G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553505|1.553505	0.27739|0.27739	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|T	0.13901|0.21932	2.97;2.98;3.15;2.55|1.98	4.83|4.83	2.02|2.02	0.26589|0.26589	.|.	1.113110|.	0.06939|.	N|.	0.812407|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P|.	0.35844|.	0.524|.	B|.	0.38500|.	0.275|.	T|T	0.37407|0.37407	-0.9707|-0.9707	10|7	0.17369|0.19147	T|T	0.5|0.46	1.6052|1.6052	6.2028|6.2028	0.20585|0.20585	0.3217:0.0:0.6783:0.0|0.3217:0.0:0.6783:0.0	.|.	449|.	E9PH32|.	.|.	R|K	431;620;449;620;585|31	ENSP00000414350:G620R;ENSP00000325431:G449R;ENSP00000396774:G620R;ENSP00000405629:G585R|ENSP00000397774:R31K	ENSP00000325431:G449R|ENSP00000397774:R31K	G|R	+|+	1|2	0|0	MUC20|MUC20	196939003|196939003	0.024000|0.024000	0.19004|0.19004	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.013000|1.013000	0.29937|0.29937	0.320000|0.320000	0.23234|0.23234	-0.140000|-0.140000	0.14226|0.14226	GGG|AGG		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		7	624	0	0	0	0.09319	0	7	624					A	195453332	G	A	195453332	3	1	82	1	0	0	0	0	1	0	0	0	10017	1000	35	2	1355	2	MUC20	3	195453332	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	25913353	195453332	2569098	36	32267											
RFC1	5981	broad.mit.edu	37	chr4	39310612	39310612	+	Frame_Shift_Del	DEL	T	T	-													tttttctttttccttggacaTttttttggggtgttctctcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1528-1530)atfs		replication factor C (activator 1) 1, 145kDa							62	66	65					4																	39310612		2203	4298	6501	SO:0001589	frameshift_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39310612delT	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					RFC1_ENST00000349703.2_Frame_Shift_Del_p.N510fs	p.N510fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			13	1662	-			510					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	ENST00000381897.1	37	c.1529delA	CCDS56329.1																																																																																				0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		7	426						7	426	---	---	---	---	-	39310612	T	-	39310612	7	5	82	1	0	1	0	1	0	0	0	0	13294	1493	52	0	1966	0	RFC1	4	39310612	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		39310612	151843664	37	32268											
SHROOM3	57619	broad.mit.edu	37	chr4	77661903	77661903	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagttggaagaggcttcCcggcagccctgcggtcagca	14	12	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2575-2577)tcC>tcG		shroom family member 3							31	36	35					4																	77661903		2201	4295	6496	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661903C>G	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							p.S859S	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3530	+			859					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.2577C>G	CCDS3579.2																																																																																				0.632	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		13	369	0	0	0	0.09319	0	13	369					G	77661903	C	G	77661903	2	3	82	1	0	0	0	0	0	0	0	1	14345	610	22	5		5	SHROOM3	4	77661903	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	38351291	77661903	113492373	38	32269											
TET2	54790	broad.mit.edu	37	chr4	106157130	106157130	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgtgcagtcactgtgTggcactagatttcattttca	9	9	4	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:106157130T>A	ENST00000540549.1	+	3	2891	c.2031T>A	c.(2029-2031)tgT>tgA	p.C677*	TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000513237.1_Nonsense_Mutation_p.C698*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	677	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTCACTGTGTGGCACTAGAT	0.438			"Mis N, F"		MDS																																	ENST00000540549.1				Rec	yes		4	4q24	54790	"Mis N, F"	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2029-2031)tgT>tgA		tet methylcytosine dioxygenase 2							109	107	108					4																	106157130		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157130T>A	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.2031T>A	4.37:g.106157130T>A	ENSP00000442788:p.Cys677*					TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*|TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*|TET2_ENST00000513237.1_Nonsense_Mutation_p.C698*	p.C677*			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2891	+		Myeloproliferative disorder(5;0.0393)	677			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.2031T>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020328	0.93462	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.6	-6.08	0.02151	.	0.621347	0.15973	N	0.235671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.1181	0.42603	0.0:0.5241:0.1056:0.3704	.	.	.	.	X	677;677;677;698;677;677;677	.	ENSP00000265149:C677X	C	+	3	2	TET2	106376579	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.340000	0.07821	-0.678000	0.05224	0.533000	0.62120	TGT		0.438	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		5	398	0	0	0	0.021553	0	5	398					A	106157130	T	A	106157130	4	1	82	1	0	0	0	0	0	1	0	0	15822	1702	59	5	2033	5	TET2	4	106157130	Nonsense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	28495227	106157130	84997146	39	32270											
SEC24D	9871	broad.mit.edu	37	chr4	119745872	119745873	+	Frame_Shift_Ins	INS	-	-	G													aacattcccctagtggcggtINSggcccccaaaggccctgctg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:119745872_119745873insG	ENST00000280551.6	-	3	388_389	c.150_151insC	c.(148-153)gccaccfs	p.T51fs	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Frame_Shift_Ins_p.T51fs			O94855	SC24D_HUMAN	SEC24 family member D	51	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTAGTGGCGGTGGCCCCCAAAG	0.54																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(148-153)gcccgcfs		SEC24 family member D																																				SO:0001589	frameshift_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119745872_119745873insG	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.151dupC	4.37:g.119745874_119745874dupG	ENSP00000280551:p.Thr51fs					SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs	p.R51fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			3	421_422	-			51			Pro-rich.		Q8IYI7	Frame_Shift_Ins	INS	ENST00000280551.6	37	c.150_151insC	CCDS3710.1																																																																																				0.54	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			10	726						10	726	---	---	---	---	G	119745873	-	G	119745872	7	5	82	1	0	1	1	0	0	0	0	0	14047	1696	59	0	3031	0	SEC24D	4	119745872	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	13588742	119745872	71408404	40	32271											
NAA15	80155	broad.mit.edu	37	chr4	140258043	140258043	+	Frame_Shift_Del	DEL	A	A	-													taacattgaactgtttggggAaaaaggaagaagcttatgaa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140258043delA	ENST00000296543.5	+	3	504	c.181delA	c.(181-183)aaafs	p.K62fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.K62fs|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	62					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						CTGTTTGGGGAAAAAGGAAGA	0.299																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(181-183)aafs		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							138	128	131					4																	140258043		1884	4163	6047	SO:0001589	frameshift_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140258043delA	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.181delA	4.37:g.140258043delA	ENSP00000296543:p.Lys62fs					NAA15_ENST00000398947.1_Frame_Shift_Del_p.K62fs|NAA15_ENST00000480277.2_3'UTR	p.K62fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			3	504	+			62					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Frame_Shift_Del	DEL	ENST00000296543.5	37	c.181delA	CCDS43270.1																																																																																				0.299	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		8	692						8	692	---	---	---	---	-	140258043	A	-	140258043	7	5	82	1	0	1	0	1	0	0	0	0	10159	247	9	0	191	0	NAA15	4	140258043	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	20512171	140258043	50896233	41	32272											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			11	202	0	0	0	0.080935	0	11	202					T	140811108	C	T	140811108	2	4	82	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	553065	140811108	50343168	42	32273											
DHX29	54505	broad.mit.edu	37	chr5	54579209	54579210	+	Frame_Shift_Ins	INS	-	-	C													acttttaccactccctgtttINScacctgccacaaccactacc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:54579209_54579210insC	ENST00000251636.5	-	11	1934_1935	c.1786_1787insG	c.(1786-1788)gaafs	p.E596fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	596	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACTCCCTGTTTCACCTGCCACA	0.396																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(1786-1788)aacfs		DEAH (Asp-Glu-Ala-His) box polypeptide 29																																				SO:0001589	frameshift_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54579209_54579210insC	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.1787dupG	5.37:g.54579210_54579210dupC	ENSP00000251636:p.Glu596fs					RP11-506H20.1_ENST00000506435.1_RNA	p.N596fs	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			11	1934_1935	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	596			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Ins	INS	ENST00000251636.5	37	c.1786_1787insG	CCDS34158.1																																																																																				0.396	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		9	652						9	652	---	---	---	---	C	54579210	-	C	54579209	7	5	82	1	0	1	1	0	0	0	0	0	4519	1783	62	0	2390	0	DHX29	5	54579209	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08		54579209	126336051	43	32274											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	1480						8	1480	---	---	---	---	-	79372776	TGA	-	79372774	7	5	82	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-8126-01A-11D-2396-08	24793565	79372774	101542486	44	32275											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-													ggacctaactttagagttggAaaaaaaattggatgtggcaa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102	101	101					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		9	550						9	550	---	---	---	---	-	122881495	A	-	122881495	7	5	82	1	0	1	0	1	0	0	0	0	3967	233	9	0	140	0	CSNK1G3	5	122881495	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	43508721	122881495	58033765	45	32276											
SPOCK1	6695	broad.mit.edu	37	chr5	136403476	136403476	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcccatcacagagggtggCgaggcttttgccagtagaac	15	10	1	2	rs139465331		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:136403476C>T	ENST00000394945.1	-	6	686	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A173T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	173	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				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)			CAGAGGGTGGCGAGGCTTTTG	0.527													T|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.0		0.001	False		,,,				2504	0.0					ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(517-519)Gcc>Acc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1		T	THR/ALA	2,4404	826.0+/-416.6	0,2,2201	153	138	143		517	1.5	0.8	5	dbSNP_134	143	8,8592	818.9+/-406.8	0,8,4292	yes	missense	SPOCK1	NM_004598.3	58	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	benign	173/440	136403476	10,12996	2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136403476C>T	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.517G>A	5.37:g.136403476C>T	ENSP00000378401:p.Ala173Thr					SPOCK1_ENST00000282223.7_Missense_Mutation_p.A173T	p.A173T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	686	-			173			Kazal-like.		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.517G>A	CCDS4191.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	8.496	0.863193	0.17250	4.54E-4	9.3E-4	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.03951	3.75;3.75;3.75	5.29	1.53	0.23141	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.647153	0.16037	N	0.232569	T	0.01421	0.0046	N	0.00690	-1.25	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.48833	-0.9000	10	0.15066	T	0.55	.	8.4119	0.32648	0.0:0.3226:0.0:0.6774	.	173	Q08629	TICN1_HUMAN	T	173;173;28	ENSP00000378401:A173T;ENSP00000282223:A173T;ENSP00000421677:A28T	ENSP00000282223:A173T	A	-	1	0	SPOCK1	136431375	0.624000	0.27102	0.838000	0.33150	0.900000	0.52787	0.051000	0.14141	0.035000	0.15519	-1.327000	0.01280	GCC		0.527	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		16	469	0	0	0	0.043863	0	16	469					T	136403476	C	T	136403476	3	4	82	1	0	0	0	0	1	0	0	0	15131	768	27	1	826	1	SPOCK1	5	136403476	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	13521981	136403476	44511784	46	32277											
SH3TC2	79628	broad.mit.edu	37	chr5	148389864	148389865	+	Frame_Shift_Ins	INS	-	-	G													cactgcatgatgcctgtggcINSgggtcccattgaagaacaca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:148389864_148389865insG	ENST00000515425.1	-	14	3396_3397	c.3295_3296insC	c.(3295-3297)cgcfs	p.R1099fs	SH3TC2_ENST00000538184.1_Frame_Shift_Ins_p.R646fs|SH3TC2_ENST00000512049.1_Frame_Shift_Ins_p.R1092fs|SH3TC2_ENST00000502274.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1099					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)			ATGCCTGTGGCGGGTCCCATTG	0.55																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1936-1938)ccafs		SH3 domain and tetratricopeptide repeats 2																																				SO:0001589	frameshift_variant	79628						binding	g.chr5:148389864_148389865insG	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.3296dupC	5.37:g.148389867_148389867dupG	ENSP00000423660:p.Arg1099fs					SH3TC2_ENST00000515425.1_Frame_Shift_Ins_p.P1099fs|SH3TC2_ENST00000512049.1_Frame_Shift_Ins_p.P1092fs	p.P646fs			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2824_2825	-			1099					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Frame_Shift_Ins	INS	ENST00000515425.1	37	c.1936_1937insC	CCDS4293.1																																																																																				0.55	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		7	398						7	398	---	---	---	---	G	148389865	-	G	148389864	7	5	82	1	0	1	1	0	0	0	0	0	14312	768	27	0	586	0	SH3TC2	5	148389864	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	11986388	148389864	32525396	47	32278											
DCTN4	51164	broad.mit.edu	37	chr5	150121709	150121710	+	Frame_Shift_Ins	INS	-	-	C													gattttcaggttcctgccaaINSccgccactagctacaaaata							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:150121709_150121710insC	ENST00000447998.2	-	4	510_511	c.395_396insG	c.(394-396)ggtfs	p.G132fs	DCTN4_ENST00000521093.1_Intron|DCTN4_ENST00000424236.1_Frame_Shift_Ins_p.G75fs|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.G132fs	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	132					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)			GTTCCTGCCAACCGCCACTAGC	0.337																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(394-396)gtgfs		dynactin 4 (p62)																																				SO:0001589	frameshift_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150121709_150121710insC	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.396dupG	5.37:g.150121711_150121711dupC	ENSP00000416968:p.Gly132fs					DCTN4_ENST00000521093.1_Intron|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.V132fs|DCTN4_ENST00000424236.1_Frame_Shift_Ins_p.V75fs	p.V132fs	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	510_511	-		Medulloblastoma(196;0.167)	132					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Frame_Shift_Ins	INS	ENST00000447998.2	37	c.395_396insG	CCDS4310.1																																																																																				0.337	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			10	975						10	975	---	---	---	---	C	150121710	-	C	150121709	7	5	82	1	0	1	1	0	0	0	0	0	4320	30	2	0	1051	0	DCTN4	5	150121709	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	1731845	150121709	30793551	48	32279											
BTNL8	79908	broad.mit.edu	37	chr5	180374632	180374633	+	Intron	DEL	GA	GA	-													ctccaaattccagtgtaagcGagagagagaagcatgggccg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:180374632_180374633delGA	ENST00000340184.4	+	4	993				BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000231229.4_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)cfs		butyrophilin-like 8																																				SO:0001627	intron_variant	79908					integral to membrane		g.chr5:180374632_180374633delGA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+7GA>-	5.37:g.180374640_180374641delGA						BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000400707.3_Intron	p.R265fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1028_1029	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	265					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	c.794_795delGA	CCDS43413.1																																																																																				0.495	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		8	1464						8	1464	---	---	---	---	-	180374633	GA	-	180374632	6	5	82	0	1	1	0	1	0	0	0	0	1571	1058	37	0		0	BTNL8	5	180374632	Intron	DEL	GA	TCGA-IB-8126-01A-11D-2396-08	30252923	180374632	540628	49	32280											
JARID2	3720	broad.mit.edu	37	chr6	15501164	15501164	+	Frame_Shift_Del	DEL	T	T	-													gtgagctcgacctggcctgcTttttccggctgattaatgag							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:15501164delT	ENST00000341776.2	+	8	2216	c.1972delT	c.(1972-1974)tttfs	p.F659fs	JARID2_ENST00000541660.1_Frame_Shift_Del_p.F621fs|JARID2_ENST00000397311.3_Frame_Shift_Del_p.F487fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	659	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				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)				CCTGGCCTGCTTTTTCCGGCT	0.517																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1972-1974)ttfs		jumonji, AT rich interactive domain 2							108	114	112					6																	15501164		2203	4300	6503	SO:0001589	frameshift_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501164delT	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.1972delT	6.37:g.15501164delT	ENSP00000341280:p.Phe659fs					JARID2_ENST00000397311.3_Frame_Shift_Del_p.F487fs|JARID2_ENST00000541660.1_Frame_Shift_Del_p.F621fs	p.F659fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			8	2216	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	659			ARID.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Frame_Shift_Del	DEL	ENST00000341776.2	37	c.1972delT	CCDS4533.1																																																																																				0.517	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		8	1009						8	1009	---	---	---	---	-	15501164	T	-	15501164	7	5	82	1	0	1	0	1	0	0	0	0	7975	1609	56	0	2002	0	JARID2	6	15501164	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		15501164	155613903	50	32281											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017448	26017448	+	Frame_Shift_Del	DEL	T	T	-													ttgggctttacagttttgggTttttttggattcttggagga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:26017448delT	ENST00000244573.3	-	1	592	c.513delA	c.(511-513)aaafs	p.K171fs		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	171					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGTTTTGGGTTTTTTTGGAT	0.483																																						ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(511-513)aafs		histone cluster 1, H1a							172	184	180					6																	26017448		2203	4300	6503	SO:0001589	frameshift_variant	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017448delT	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.513delA	6.37:g.26017448delT	ENSP00000244573:p.Lys171fs						p.K171fs	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	592	-			171					Q3MJ34	Frame_Shift_Del	DEL	ENST00000244573.3	37	c.513delA	CCDS4569.1																																																																																				0.483	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		7	984						7	984	---	---	---	---	-	26017448	T	-	26017448	7	5	82	1	0	1	0	1	0	0	0	0	7152	1722	60	0	138	0	HIST1H1A	6	26017448	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	10516284	26017448	145097619	51	32282											
GABBR1	2550	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt					rs368201041		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					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)	p.L783M(1)		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)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	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						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	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.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	415						7	415	---	---	---	---	-	29573438	CAG	-	29573436	7	5	82	1	0	1	0	1	0	0	0	0	6182	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-IB-8126-01A-11D-2396-08	3555988	29573436	141541631	52	32283											
FKBPL	63943	broad.mit.edu	37	chr6	32097086	32097086	+	Frame_Shift_Del	DEL	C	C	-													caagcatttctctatgagctCcccccaagtttcctccctcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:32097086delC	ENST00000375156.3	-	2	742	c.472delG	c.(472-474)gagfs	p.E158fs	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	158					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)										TCTATGAGCTCCCCCCAAGTT	0.587																																						ENST00000375156.3																			0											c.(472-474)agfs		FK506 binding protein like							186	197	194					6																	32097086		2203	4300	6503	SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097086delC	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.472delG	6.37:g.32097086delC	ENSP00000364298:p.Glu158fs						p.E158fs	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	742	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Del	DEL	ENST00000375156.3	37	c.472delG	CCDS4738.1																																																																																				0.587	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			10	1958						10	1958	---	---	---	---	-	32097086	C	-	32097086	7	5	82	1	0	1	0	1	0	0	0	0	5941	864	30	0	581	0	FKBPL	6	32097086	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	2523650	32097086	139017981	53	32284											
AARS2	57505	broad.mit.edu	37	chr6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T													ccgctccagcagctcctgagINSttttctttgcagcctatggg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	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.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		7	834						7	834	---	---	---	---	T	44269189	-	T	44269188	7	5	82	1	0	1	1	0	0	0	0	0	20	1029	36	0	357	0	AARS2	6	44269188	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	12172102	44269188	126845879	54	32285											
RUNX2	860	broad.mit.edu	37	chr6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacagcagcagcagcaaCagcagcagcagcagcagcaa							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(175-177)del		runt-related transcription factor 2																																				SO:0001651	inframe_deletion	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390446_45390448delCAG	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.175_177delCAG	6.37:g.45390455_45390457delCAG	ENSP00000360493:p.Gln71del					RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del	p.Q71del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	533_535	+			71			Poly-Gln.		O14614|O14615|O95181	In_Frame_Del	DEL	ENST00000371438.1	37	c.175_177delCAG	CCDS43467.2																																																																																				0.729	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		13	295						13	295	---	---	---	---	-	45390448	CAG	-	45390446	7	5	82	1	0	1	0	1	0	0	0	0	13798	479	17	0	197	0	RUNX2	6	45390446	In_Frame_Del	DEL	CAG	TCGA-IB-8126-01A-11D-2396-08	1121258	45390446	125724621	55	32286											
TRAM2	9697	broad.mit.edu	37	chr6	52370505	52370506	+	Frame_Shift_Ins	INS	-	-	G													aagggtgaggatgaagaggcINSgggtaaccccaaaaacagca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:52370505_52370506insG	ENST00000182527.3	-	9	765_766	c.766_767insC	c.(766-768)cgcfs	p.R256fs	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	256	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)		p.R256L(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GATGAAGAGGCGGGTAACCCCA	0.535																																						ENST00000182527.3																			1	Substitution - Missense(1)	p.R256L(1)	lung(1)	endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13						c.(766-768)cctfs		translocation associated membrane protein 2																																				SO:0001589	frameshift_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52370505_52370506insG	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.767dupC	6.37:g.52370508_52370508dupG	ENSP00000182527:p.Arg256fs					EFHC1_ENST00000433625.2_Intron	p.P256fs	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN			9	765_766	-	Lung NSC(77;0.109)		256			TLC.		A8K6T6	Frame_Shift_Ins	INS	ENST00000182527.3	37	c.766_767insC	CCDS34477.1																																																																																				0.535	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288		9	484						9	484	---	---	---	---	G	52370506	-	G	52370505	7	5	82	1	0	1	1	0	0	0	0	0	16506	768	27	0	357	0	TRAM2	6	52370505	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	6980059	52370505	118744562	56	32287											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-													cggcaccaaattggaggactCccccccttgtcgcaactggt					rs76774128		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:55039411delC	ENST00000370862.3	+	1	362	c.26delC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)tcfs		hypocretin (orexin) receptor 2							101	96	98					6																	55039411		2203	4300	6503	SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039411delC	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.26delC	6.37:g.55039411delC	ENSP00000359899:p.Ser9fs						p.S9fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Del	DEL	ENST00000370862.3	37	c.26delC	CCDS4956.1																																																																																				0.567	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			9	820						9	820	---	---	---	---	-	55039411	C	-	55039411	7	5	82	1	0	1	0	1	0	0	0	0	7032	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	2668906	55039411	116075656	57	32288											
FILIP1	27145	broad.mit.edu	37	chr6	76022448	76022448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgactttgaggattgtccGtcccatgggcatttcctggg	14	9	0	2	rs201283216		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:76022448G>A	ENST00000237172.7	-	5	3430	c.3100C>T	c.(3100-3102)Cgg>Tgg	p.R1034W	FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1034W|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGATTGTCCGTCCCATGGGC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20359	0.001		0.0	False		,,,				2504	0.0					ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3100-3102)Cgg>Tgg		filamin A interacting protein 1		G	TRP/ARG	0,4406		0,0,2203	195	198	197		3100	4.9	1	6		197	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FILIP1	NM_015687.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1034/1214	76022448	2,13004	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022448G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3100C>T	6.37:g.76022448G>A	ENSP00000237172:p.Arg1034Trp					FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1034W	p.R1034W			Q7Z7B0	FLIP1_HUMAN			5	3321	-			1034					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3100C>T	CCDS4984.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.48	3.632208	0.67015	0.0	2.33E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21543	2.0;2.0;2.01	6.03	4.88	0.63580	.	0.090765	0.64402	D	0.000001	T	0.29458	0.0734	L	0.55481	1.735	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.994	T	0.07347	-1.0777	10	0.72032	D	0.01	-28.613	12.2258	0.54459	0.0:0.0:0.2831:0.7169	.	1034;1034;1034	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	1034;1034;935	ENSP00000376728:R1034W;ENSP00000237172:R1034W;ENSP00000359037:R935W	ENSP00000237172:R1034W	R	-	1	2	FILIP1	76079168	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.142000	0.42177	1.110000	0.41699	-0.262000	0.10625	CGG		0.468	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		7	937	0	0	0	0.02938	0	7	937					A	76022448	G	A	76022448	3	1	82	1	0	0	0	0	1	0	0	0	5919	1144	40	1	549	1	FILIP1	6	76022448	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	20983037	76022448	95092619	58	32289											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T													caagaaagcaaaagcctctgINSttttttttcttgtcatccgg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	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.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		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)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		8	715						8	715	---	---	---	---	T	86332354	-	T	86332353	7	5	82	1	0	1	1	0	0	0	0	0	15496	1368	48	0	1078	0	SYNCRIP	6	86332353	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	10309905	86332353	84782714	59	32290											
MAP3K7	6885	broad.mit.edu	37	chr6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-													tcatctcaccggccgaagacGaggaggaggaggaggcggca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(31-36)tcg>tc		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296568_91296570delGAG	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.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del	p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		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)	1	194_196	-		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)	13			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		7	170						7	170	---	---	---	---	-	91296570	GAG	-	91296568	7	5	82	1	0	1	0	1	0	0	0	0	9296	1059	37	0	1853	0	MAP3K7	6	91296568	In_Frame_Del	DEL	GAG	TCGA-IB-8126-01A-11D-2396-08	4964215	91296568	79818499	60	32291											
NCOA7	135112	broad.mit.edu	37	chr6	126176317	126176317	+	Frame_Shift_Del	DEL	A	A	-													aggaatatatgactgatgagAaaaaaaagagaaaaagtaat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:126176317delA	ENST00000368357.3	+	4	554	c.202delA	c.(202-204)aaafs	p.K70fs	NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	70					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)		GACTGATGAGAAAAAAAAGAG	0.358																																						ENST00000368357.3																			0				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						c.(202-204)aafs		nuclear receptor coactivator 7							143	158	153					6																	126176317		2203	4300	6503	SO:0001589	frameshift_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126176317delA	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.202delA	6.37:g.126176317delA	ENSP00000357341:p.Lys70fs					NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs|NCOA7_ENST00000487635.1_3'UTR	p.K70fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	4	554	+			70					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Frame_Shift_Del	DEL	ENST00000368357.3	37	c.202delA	CCDS5132.1																																																																																				0.358	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		8	1157						8	1157	---	---	---	---	-	126176317	A	-	126176317	7	5	82	1	0	1	0	1	0	0	0	0	10276	247	9	0	208	0	NCOA7	6	126176317	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	34879749	126176317	44938750	61	32292											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		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)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	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.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		20	937						20	937	---	---	---	---	T	129959603	-	T	129959602	7	5	82	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	3783285	129959602	41155465	62	32293											
SYNE1	23345	broad.mit.edu	37	chr6	152777116	152777116	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacaaacttttgaacacTttgactgcctttctcaataa	5	10	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:152777116T>G	ENST00000367255.5	-	23	3233	c.2632A>C	c.(2632-2634)Agt>Cgt	p.S878R	SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	878					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)		TTTTGAACACTTTGACTGCCT	0.363										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2632-2634)Agt>Cgt		spectrin repeat containing, nuclear envelope 1							144	132	136					6																	152777116		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152777116T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2632A>C	6.37:g.152777116T>G	ENSP00000356224:p.Ser878Arg	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R|SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R	p.S878R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	23	3233	-		Ovarian(120;0.0955)	878					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2632A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865046	0.51482	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.52983	1.44;1.44;1.44;1.44;0.64;1.44;1.44;1.44;1.44	5.25	4.09	0.47781	.	0.427135	0.21974	N	0.066416	T	0.20861	0.0502	L	0.34521	1.04	0.80722	D	1	B;B;B;P;B;B;B	0.35077	0.112;0.215;0.404;0.483;0.321;0.215;0.21	B;B;B;B;B;B;B	0.36244	0.074;0.063;0.22;0.203;0.146;0.063;0.146	T	0.05937	-1.0855	10	0.52906	T	0.07	.	8.2238	0.31558	0.0:0.1536:0.0:0.8464	.	861;878;445;868;878;878;885	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	R	878;885;878;885;930;878;868;878;445	ENSP00000356224:S878R;ENSP00000396024:S885R;ENSP00000265368:S878R;ENSP00000390975:S885R;ENSP00000341887:S930R;ENSP00000356222:S878R;ENSP00000356217:S868R;ENSP00000414510:S878R;ENSP00000438508:S445R	ENSP00000265368:S878R	S	-	1	0	SYNE1	152818809	0.025000	0.19082	0.998000	0.56505	0.967000	0.64934	1.554000	0.36266	0.845000	0.35118	0.533000	0.62120	AGT		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	380	0	0	0	0.02938	0	6	380					G	152777116	T	G	152777116	3	3	82	1	0	0	0	0	1	0	0	0	15497	1609	56	4	24330	4	SYNE1	6	152777116	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	22817514	152777116	18337951	63	32294											
PHF14	9678	broad.mit.edu	37	chr7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-													tattgtaaaatgtctttgcaAgagagagagaagcaactatc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagagfs	p.E524fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.E239fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	524					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)		TGTCTTTGCAAGAGAGAGAGAA	0.376																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1567-1572)caagfs		PHD finger protein 14																																				SO:0001589	frameshift_variant	9678						zinc ion binding	g.chr7:11075380_11075381delAG	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.1569_1570delAG	7.37:g.11075388_11075389delAG	ENSP00000385795:p.Glu524fs					PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	p.QE523fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	2021_2022	+			523					A7MCZ3|B4DI82	Frame_Shift_Del	DEL	ENST00000403050.3	37	c.1569_1570delAG	CCDS47542.1																																																																																				0.376	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		7	1130						7	1130	---	---	---	---	-	11075381	AG	-	11075380	7	5	82	1	0	1	0	1	0	0	0	0	11867	69	3	0	1599	0	PHF14	7	11075380	Frame_Shift_Del	DEL	AG	TCGA-IB-8126-01A-11D-2396-08		11075380	148063283	64	32295											
SEPT14	346288	broad.mit.edu	37	chr7	55872990	55872990	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatgttgcttctttctccttGactcgctgcataaatctctg	6	11	3	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:55872990G>A	ENST00000388975.3	-	9	1196	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	360					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)			CTTTCTCCTTGACTCGCTGCA	0.343																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(1078-1080)gtC>gtT		septin 14							117	115	115					7																	55872990		2202	4297	6499	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55872990G>A	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.1080C>T	7.37:g.55872990G>A							p.V360V	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1196	-	Breast(14;0.214)		360					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.1080C>T	CCDS5519.2																																																																																				0.343	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		6	201	0	0	0	0.02938	0	6	201					A	55872990	G	A	55872990	2	1	82	1	0	0	0	0	0	0	0	1	14113	1277	45	2		2	SEPT14	7	55872990	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	44797610	55872990	103265673	65	32296											
ZAN	7455	broad.mit.edu	37	chr7	100350592	100350592	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caccatctccccagaaaaacTcaccatccccacagaaaaac	2	18	2	2	rs112032841	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:100350592T>C	ENST00000348028.3	+	0	3029				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACTCACCATCCCC	0.512													N|||	10	0.00199681	0.0	0.0043	5008	,	,		19015	0.001		0.005	False		,,,				2504	0.001					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							235	279	265					7																	100350592		1871	4095	5966			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350592T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350592T>C						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3012	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	4.962	0.178753	0.09443	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63417	-0.04;-0.04;-0.04	2.8	2.8	0.32819	.	0.841065	0.09711	N	0.765773	T	0.36468	0.0968	N	0.02960	-0.455	0.18873	N	0.999988	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.23868	-1.0176	10	0.34782	T	0.22	.	8.2876	0.31939	0.0:0.8748:0.0:0.1252	.	955;955	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	955	ENSP00000445943:L955P;ENSP00000445091:L955P;ENSP00000444427:L955P	ENSP00000423579:L955P	L	+	2	0	ZAN	100188528	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.000000	0.12993	0.748000	0.32831	-0.230000	0.12252	CTC		0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		19	1026	0	0	0	0.0918	0	19	1026					C	100350592	T	C	100350592	1	2	82	0	1	0	0	0	0	0	0	0	17567	1551	54	4		4	ZAN	7	100350592	RNA	SNP	T	TCGA-IB-8126-01A-11D-2396-08	44477602	100350592	58788071	66	32297											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	223	0	0	0	0.02938	0	7	223					G	114269973	A	G	114269973	2	3	82	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	13919381	114269973	44868690	67	32298											
ZNF800	168850	broad.mit.edu	37	chr7	127014205	127014205	+	Frame_Shift_Del	DEL	T	T	-													ttggcagtattattagggccTttttctcttttagagtttgt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:127014205delT	ENST00000393313.1	-	5	1776	c.1185delA	c.(1183-1185)aaafs	p.K395fs	ZNF800_ENST00000393312.1_Frame_Shift_Del_p.K395fs|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Frame_Shift_Del_p.K395fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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						TATTAGGGCCTTTTTCTCTTT	0.358																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1183-1185)aafs		zinc finger protein 800							94	102	99					7																	127014205		2202	4297	6499	SO:0001589	frameshift_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014205delT	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.1185delA	7.37:g.127014205delT	ENSP00000376989:p.Lys395fs					ZNF800_ENST00000265827.3_Frame_Shift_Del_p.K395fs|ZNF800_ENST00000393312.1_Frame_Shift_Del_p.K395fs	p.K395fs			Q2TB10	ZN800_HUMAN			5	1776	-			395					Q9HBN0	Frame_Shift_Del	DEL	ENST00000393313.1	37	c.1185delA	CCDS5795.1																																																																																				0.358	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		7	493						7	493	---	---	---	---	-	127014205	T	-	127014205	7	5	82	1	0	1	0	1	0	0	0	0	18222	1606	56	0	817	0	ZNF800	7	127014205	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	12744232	127014205	32124458	68	32299											
TPK1	27010	broad.mit.edu	37	chr7	144380019	144380019	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacctttctctctctccttcGgtgatatcatataagcggtt	6	11	3	1	rs370527936		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:144380019G>T	ENST00000360057.3	-	4	270	c.168C>A	c.(166-168)acC>acA	p.T56T	TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000538212.2_Missense_Mutation_p.P11Q|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	56					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTCTCCTTCGGTGATATCAT	0.388																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000538212.2																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(31-33)cCg>cAg		thiamin pyrophosphokinase 1	Thiamine(DB00152)						202	199	200					7																	144380019		2203	4300	6503	SO:0001819	synonymous_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144380019G>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"placental protein 20", "thiamine pyrophosphokinase 1", "thiamine kinase", "thiamine diphosphokinase"	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.168C>A	7.37:g.144380019G>T						TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000360057.3_Silent_p.T56T	p.P11Q			Q9H3S4	TPK1_HUMAN			2	102	-			0					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.32C>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535538	0.27475	.	.	ENSG00000196511	ENST00000538212	T	0.76839	-1.05	6.02	-12.0	0.00017	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.39078	D	0.960843	B	0.13594	0.008	B	0.12156	0.007	T	0.42699	-0.9436	8	0.87932	D	0	-12.0501	0.591	0.00728	0.3264:0.1282:0.3282:0.2172	.	11	Q6ZQX6	.	Q	11	ENSP00000438813:P11Q	ENSP00000449909:P11Q	P	-	2	0	TPK1	144010952	0.001000	0.12720	0.186000	0.23195	0.976000	0.68499	-3.359000	0.00498	-2.266000	0.00687	-0.136000	0.14681	CCG		0.388	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		7	964	1	0	0.0293803	0.02938	0.0301305	7	964					T	144380019	G	T	144380019	2	4	82	1	0	0	0	0	0	0	0	1	16457	1103	39	3		3	TPK1	7	144380019	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	17365814	144380019	14758644	69	32300											
RP1L1	94137	broad.mit.edu	37	chr8	10465022	10465022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctctggggcctctaTaccttctgactctggctggg	11	13	5	1	rs200407750		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:10465022T>C	ENST00000382483.3	-	4	6809	c.6586A>G	c.(6586-6588)Ata>Gta	p.I2196V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2276	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)		GGGGCCTCTATACCTTCTGAC	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6586-6588)Ata>Gta		retinitis pigmentosa 1-like 1							158	172	168					8																	10465022		1877	4104	5981	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465022T>C	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.6586A>G	8.37:g.10465022T>C	ENSP00000371923:p.Ile2196Val						p.I2196V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6809	-			2196					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6586A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152028	0.06585	.	.	ENSG00000183638	ENST00000382483	T	0.07444	3.19	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	9	0.28530	T	0.3	.	8.8709	0.35316	0.0:0.4591:0.0:0.5409	.	2196	A6NKC6	.	V	2196	ENSP00000371923:I2196V	ENSP00000371923:I2196V	I	-	1	0	RP1L1	10502432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-0.995000	0.03459	-0.375000	0.07067	ATA		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			16	1668	0	0	0	0.175082	0	16	1668					C	10465022	T	C	10465022	3	2	82	1	0	0	0	0	1	0	0	0	13583	1406	49	4	620	4	RP1L1	8	10465022	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08		10465022	135899000	70	32301											
UNC5D	137970	broad.mit.edu	37	chr8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-													gaagcaactgaaggtggcggTttttggctgcatgtcctgta							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:35608248delT	ENST00000404895.2	+	13	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.V626fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695					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)		AAGGTGGCGGTTTTTGGCTGC	0.488																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1876-1878)gtfs		unc-5 homolog D (C. elegans)							237	200	213					8																	35608248		2203	4300	6503	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608248delT	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.2084delT	8.37:g.35608248delT	ENSP00000385143:p.Val695fs					UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs	p.V626fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1897	+			695			ZU5.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.1877delT	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	832						8	832	---	---	---	---	-	35608248	T	-	35608248	7	5	82	1	0	1	0	1	0	0	0	0	17049	1725	60	0	2134	0	UNC5D	8	35608248	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	25143226	35608248	110755774	71	32302											
GPR124	25960	broad.mit.edu	37	chr8	37693141	37693141	+	Frame_Shift_Del	DEL	C	C	-													cccttccggctgccctggctCccccggtgcccccagactgc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:37693141delC	ENST00000412232.2	+	13	1916	c.1903delC	c.(1903-1905)cccfs	p.P636fs	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	636					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)			TGCCCTGGCTCCCCCGGTGCC	0.662																																						ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1903-1905)ccfs		G protein-coupled receptor 124							81	95	90					8																	37693141		2203	4300	6503	SO:0001589	frameshift_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693141delC	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.1903delC	8.37:g.37693141delC	ENSP00000406367:p.Pro636fs					GPR124_ENST00000315215.7_Intron	p.P636fs	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1916	+			636					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Frame_Shift_Del	DEL	ENST00000412232.2	37	c.1903delC	CCDS6097.2																																																																																				0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			7	1760						7	1760	---	---	---	---	-	37693141	C	-	37693141	7	5	82	1	0	1	0	1	0	0	0	0	6667	855	30	0	1932	0	GPR124	8	37693141	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	2084893	37693141	108670881	72	32303											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-													tgatgagtcatgcttgttgcTttttttcctcttttcttttc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					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)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203	182	189					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	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.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	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)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		7	849						7	849	---	---	---	---	-	38205092	T	-	38205092	7	5	82	1	0	1	0	1	0	0	0	0	17417	1609	56	0	3894	0	WHSC1L1	8	38205092	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	511951	38205092	108158930	73	32304											
ADAM9	8754	broad.mit.edu	37	chr8	38880792	38880793	+	Frame_Shift_Ins	INS	-	-	G													ggggaacttcgtgcagtggcINSgggaaaagtttcttatcaca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:38880792_38880793insG	ENST00000487273.2	+	9	940_941	c.862_863insG	c.(862-864)cggfs	p.R288fs		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	288	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CGTGCAGTGGCGGGAAAAGTTT	0.396																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(862-864)ggafs		ADAM metallopeptidase domain 9				2,4262		0,2,2130						3.8	1			138	0,8254		0,0,4127	no	frameshift	ADAM9	NM_003816.2		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880792_38880793insG	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"ADAM metallopeptidase domain containing"	216	protein-coding gene	gene with protein product	"meltrin gamma"	602713	"a disintegrin and metalloproteinase domain 9 (meltrin gamma)", "cone rod dystrophy 9"	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.865dupG	8.37:g.38880795_38880795dupG	ENSP00000419446:p.Arg288fs						p.G288fs	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	940_941	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	288			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Frame_Shift_Ins	INS	ENST00000487273.2	37	c.862_863insG	CCDS6112.1																																																																																				0.396	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			8	440						8	440	---	---	---	---	G	38880793	-	G	38880792	7	5	82	1	0	1	1	0	0	0	0	0	253	759	27	0	896	0	ADAM9	8	38880792	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	675700	38880792	107483230	74	32305											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		15	56	0	0	0	0.064281	0	15	56					G	41790659	T	G	41790659	2	3	82	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	2909867	41790659	104573363	75	32306											
XKR4	114786	broad.mit.edu	37	chr8	56436505	56436505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaaccgcagtgttgtcagcGaccgcgatcagaaattcgca	10	12	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:56436505G>A	ENST00000327381.6	+	3	1772	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	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	558						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)			TGTTGTCAGCGACCGCGATCA	0.587																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1672-1674)Gac>Aac		XK, Kell blood group complex subunit-related family, member 4							68	70	69					8																	56436505		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436505G>A	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.1672G>A	8.37:g.56436505G>A	ENSP00000328326:p.Asp558Asn						p.D558N	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1772	+			558					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1672G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413709	0.42817	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82984	-1.67	5.95	5.95	0.96441	.	0.453459	0.26616	N	0.023398	T	0.77665	0.4164	L	0.43152	1.355	0.50813	D	0.99989	B	0.33748	0.423	B	0.26094	0.066	T	0.73445	-0.3980	10	0.21014	T	0.42	-4.3001	20.3931	0.98965	0.0:0.0:1.0:0.0	.	558	Q5GH76	XKR4_HUMAN	N	558	ENSP00000328326:D558N	ENSP00000328326:D558N	D	+	1	0	XKR4	56599059	1.000000	0.71417	0.862000	0.33874	0.008000	0.06430	7.863000	0.87023	2.824000	0.97209	0.655000	0.94253	GAC		0.587	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		5	330	0	0	0	0.014758	0	5	330					A	56436505	G	A	56436505	3	1	82	1	0	0	0	0	1	0	0	0	17487	1058	37	1	1682	1	XKR4	8	56436505	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	14645846	56436505	89927517	76	32307											
BAI1	575	broad.mit.edu	37	chr8	143603440	143603440	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacgggccacctccggaacCgcctcatccgcaagcgcttc	10	18	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:143603440C>T	ENST00000517894.1	+	21	4033	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					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)					CCTCCGGAACCGCCTCATCCG	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3139-3141)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							31	41	38					8																	143603440		2198	4299	6497	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603440C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3139C>T	8.37:g.143603440C>T	ENSP00000430945:p.Arg1047Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C	p.R1047C			O14514	BAI1_HUMAN			21	4033	+	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)		1047						Missense_Mutation	SNP	ENST00000517894.1	37	c.3139C>T		.	.	.	.	.	.	.	.	.	.	C	14.72	2.619636	0.46736	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.50813	0.73;0.73	3.78	2.89	0.33648	.	0.162599	0.41938	U	0.000782	T	0.49762	0.1576	M	0.83603	2.65	0.58432	D	0.999992	B	0.16802	0.019	B	0.17433	0.018	T	0.51593	-0.8686	10	0.72032	D	0.01	.	9.8607	0.41112	0.0:0.897:0.0:0.103	.	1047	E9PBK0	.	C	1047	ENSP00000430945:R1047C;ENSP00000313046:R1047C	ENSP00000313046:R1047C	R	+	1	0	BAI1	143600442	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.563000	0.60823	0.558000	0.29135	0.305000	0.20034	CGC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		11	203	0	0	0	0.09319	0	11	203					T	143603440	C	T	143603440	3	4	82	1	0	0	0	0	1	0	0	0	1299	652	23	1	3217	1	BAI1	8	143603440	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	87166935	143603440	2760582	77	32308											
KIAA1045	23349	broad.mit.edu	37	chr9	34971580	34971580	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagcctgaggagtttgacagGacaagtcgattcacaccccc	11	12	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:34971580G>T	ENST00000242315.3	+	2	367	c.285G>T	c.(283-285)agG>agT	p.R95S	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	95							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGTTTGACAGGACAAGTCGAT	0.622																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(283-285)agG>agT		KIAA1045							105	121	116					9																	34971580		2011	4162	6173	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971580G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.285G>T	9.37:g.34971580G>T	ENSP00000242315:p.Arg95Ser					KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S|KIAA1045_ENST00000476115.2_Intron	p.R95S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	367	+			95					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.285G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510166	0.27036	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	6.03	2.92	0.33932	.	0.366196	0.29046	N	0.013305	T	0.28134	0.0694	L	0.36672	1.1	0.21220	N	0.99976	B	0.19200	0.034	B	0.18561	0.022	T	0.13683	-1.0500	8	.	.	.	-9.928	6.5955	0.22669	0.2802:0.0:0.5903:0.1295	.	95	Q9UPV7	K1045_HUMAN	S	95	.	.	R	+	3	2	KIAA1045	34961580	0.710000	0.27896	0.619000	0.29118	0.132000	0.20833	-0.067000	0.11579	0.885000	0.36088	0.655000	0.94253	AGG		0.622	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		11	1758	1	0	3.09899e-07	0.047766	3.33418e-07	11	1758					T	34971580	G	T	34971580	3	4	82	1	0	0	0	0	1	0	0	0	8237	1165	41	3	287	3	KIAA1045	9	34971580	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		34971580	106241851	78	32309											
RUSC2	9853	broad.mit.edu	37	chr9	35555384	35555384	+	Frame_Shift_Del	DEL	C	C	-													atcgcccctgggcagctactCccccatccggagtgttggcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:35555384delC	ENST00000455600.1	+	3	2911	c.2342delC	c.(2341-2343)tccfs	p.S781fs		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	781						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)			GGCAGCTACTCCCCCATCCGG	0.662																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2341-2343)tcfs		RUN and SH3 domain containing 2							78	85	83					9																	35555384		2203	4300	6503	SO:0001589	frameshift_variant	9853					cytosol		g.chr9:35555384delC	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.2342delC	9.37:g.35555384delC	ENSP00000393922:p.Ser781fs						p.S781fs	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2911	+			781					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Del	DEL	ENST00000455600.1	37	c.2342delC	CCDS35008.1																																																																																				0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		9	2177						9	2177	---	---	---	---	-	35555384	C	-	35555384	7	5	82	1	0	1	0	1	0	0	0	0	13801	855	30	0	2348	0	RUSC2	9	35555384	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	583804	35555384	105658047	79	32310											
TRPM3	80036	broad.mit.edu	37	chr9	73151119	73151119	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggaacagtgatgttgTtggacagggttctctctgag	14	6	3	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:73151119T>C	ENST00000377110.3	-	25	5117	c.4874A>G	c.(4873-4875)aAc>aGc	p.N1625S	TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000377111.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1650					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						AGTGATGTTGTTGGACAGGGT	0.552																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4873-4875)aAc>aGc		transient receptor potential cation channel, subfamily M, member 3							398	385	389					9																	73151119		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151119T>C	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.4874A>G	9.37:g.73151119T>C	ENSP00000366314:p.Asn1625Ser					TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S	p.N1625S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	5117	-			1650					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4874A>G	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534120	0.27475	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.53640	0.66;0.64;0.64;0.61;0.66;0.61;0.64;0.64;0.64;0.65	5.77	4.62	0.57501	.	0.290243	0.39083	N	0.001479	T	0.51126	0.1656	N	0.24115	0.695	0.32672	N	0.516704	B;B;B;B;P;D;B	0.56035	0.318;0.318;0.213;0.378;0.73;0.974;0.213	B;B;B;B;B;D;B	0.67725	0.099;0.141;0.046;0.047;0.281;0.953;0.031	T	0.58194	-0.7679	10	0.25751	T	0.34	-32.5811	13.0652	0.59030	0.0:0.0:0.1343:0.8657	.	1625;1615;1629;1487;1484;1597;1484	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	S	1625;1497;1487;1484;1629;1484;1484;1497;1487;1652	ENSP00000366314:N1625S;ENSP00000366310:N1497S;ENSP00000354066:N1487S;ENSP00000366309:N1484S;ENSP00000350140:N1629S;ENSP00000386127:N1484S;ENSP00000379581:N1484S;ENSP00000379587:N1497S;ENSP00000350791:N1487S;ENSP00000389542:N1652S	ENSP00000350140:N1629S	N	-	2	0	TRPM3	72340939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	0.985000	0.38656	0.533000	0.62120	AAC		0.552	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		97	2223	0	0	0	0.139131	0	97	2223					C	73151119	T	C	73151119	3	2	82	1	0	0	0	0	1	0	0	0	16640	1725	60	4	253	4	TRPM3	9	73151119	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	37595735	73151119	68062312	80	32311											
CEP110	11064	broad.mit.edu	37	chr9	123875985	123875985	+	Frame_Shift_Del	DEL	A	A	-													cacgcaactggaagacaaagAaaaaaaaataagtgcaggtt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:123875985delA	ENST00000373855.1	+	10	1588	c.1328delA	c.(1327-1329)gaafs	p.E443fs	CNTRL_ENST00000373865.2_Frame_Shift_Del_p.E443fs|CNTRL_ENST00000238341.5_Frame_Shift_Del_p.E443fs			Q7Z7A1	CNTRL_HUMAN	centriolin	443					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						GAAGACAAAGAAAAAAAAATA	0.318																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1327-1329)gafs		centriolin							36	35	35					9																	123875985		2203	4298	6501	SO:0001589	frameshift_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875985delA	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.1328delA	9.37:g.123875985delA	ENSP00000362962:p.Glu443fs					CNTRL_ENST00000238341.5_Frame_Shift_Del_p.E443fs|CNTRL_ENST00000373865.2_Frame_Shift_Del_p.E443fs	p.E443fs			Q7Z7A1	CNTRL_HUMAN			10	1588	+			443					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Frame_Shift_Del	DEL	ENST00000373855.1	37	c.1328delA	CCDS35118.1																																																																																				0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	292						8	292	---	---	---	---	-	123875985	A	-	123875985	7	5	82	1	0	1	0	1	0	0	0	0	3254	246	9	0	1358	0	CEP110	9	123875985	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	50724866	123875985	17337446	81	32312											
NUP188	23511	broad.mit.edu	37	chr9	131750436	131750436	+	Frame_Shift_Del	DEL	C	C	-													acctccttctaatgtggtgtCccccctggaacaggctctct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:131750436delC	ENST00000372577.2	+	24	2525	c.2504delC	c.(2503-2505)tccfs	p.S835fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	835					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						AATGTGGTGTCCCCCCTGGAA	0.473																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2503-2505)tcfs		nucleoporin 188kDa							230	211	218					9																	131750436		2203	4300	6503	SO:0001589	frameshift_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131750436delC	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.2504delC	9.37:g.131750436delC	ENSP00000361658:p.Ser835fs						p.S835fs	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			24	2525	+			835					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Frame_Shift_Del	DEL	ENST00000372577.2	37	c.2504delC	CCDS35156.1																																																																																				0.473	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			8	1058						8	1058	---	---	---	---	-	131750436	C	-	131750436	7	5	82	1	0	1	0	1	0	0	0	0	10800	855	30	0	2598	0	NUP188	9	131750436	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	7874451	131750436	9462995	82	32313											
CRAT	1384	broad.mit.edu	37	chr9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-													tggttcatgcacagtggcttCccccccaggtactccacggg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)gggfs	p.G165fs	RP11-247A12.1_ENST00000434250.1_RNA|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(493-495)ggfs		carnitine O-acetyltransferase	L-Carnitine(DB00583)						196	189	191					9																	131864814		2203	4300	6503	SO:0001589	frameshift_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864814delC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.495delG	9.37:g.131864814delC	ENSP00000315013:p.Gly165fs					CRAT_ENST00000464290.1_5'UTR	p.G165fs	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	789	-			165					Q5T952|Q9BW16	Frame_Shift_Del	DEL	ENST00000318080.2	37	c.495delG	CCDS6919.1																																																																																				0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			7	1839						7	1839	---	---	---	---	-	131864814	C	-	131864814	7	5	82	1	0	1	0	1	0	0	0	0	3856	842	30	0	1425	0	CRAT	9	131864814	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	114378	131864814	9348617	83	32314											
CELF2	10659	broad.mit.edu	37	chr10	11363283	11363283	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacagtacgcagccgccGcgctgcccactctgtacagc	9	17	2	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:11363283G>A	ENST00000379261.4	+	11	1281	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T	CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000608830.1_Missense_Mutation_p.A377T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000315874.4_Missense_Mutation_p.A379T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000609692.1_Missense_Mutation_p.A377T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	397	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCAGCCGCCGCGCTGCCCAC	0.657																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1189-1191)Gcg>Acg		CUGBP, Elav-like family member 2							34	38	37					10																	11363283		2062	4187	6249	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363283G>A	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.1189G>A	10.37:g.11363283G>A	ENSP00000368563:p.Ala397Thr					CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000315874.3_Missense_Mutation_p.A379T|CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T	p.A397T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1281	+			397			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1189G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318107	0.81469	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.33	5.33	0.75918	.	0.186321	0.32753	N	0.005686	T	0.79094	0.4388	M	0.62723	1.935	0.80722	D	1	P;P;B;D;P;D	0.76494	0.802;0.802;0.078;0.999;0.898;0.991	P;P;B;D;B;P	0.68621	0.471;0.471;0.029;0.959;0.378;0.776	T	0.73836	-0.3857	10	0.25106	T	0.35	-1.3418	19.2874	0.94084	0.0:0.0:1.0:0.0	.	385;403;398;410;410;397	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	T	397;397;410;410;379;377;379;379;387;379;292;203	ENSP00000368563:A397T;ENSP00000406451:A397T;ENSP00000389951:A410T;ENSP00000443926:A410T;ENSP00000382743:A379T;ENSP00000404834:A377T;ENSP00000315328:A379T;ENSP00000346426:A379T;ENSP00000388530:A379T;ENSP00000438884:A292T	ENSP00000315328:A379T	A	+	1	0	CELF2	11403289	1.000000	0.71417	0.344000	0.25628	0.982000	0.71751	9.591000	0.98241	2.789000	0.95967	0.558000	0.71614	GCG		0.657	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	288	0	0	0	0.09319	0	11	288					A	11363283	G	A	11363283	3	1	82	1	0	0	0	0	1	0	0	0	3225	1087	38	1	1339	1	CELF2	10	11363283	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		11363283	124171464	84	32315											
CHAT	1103	broad.mit.edu	37	chr10	50827783	50827783	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttccaggggctgcccaaaCtgcccgtgcccccgctgcag	11	18	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:50827783C>T	ENST00000337653.2	+	3	553	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	CHAT_ENST00000395562.2_Silent_p.L52L|CHAT_ENST00000351556.3_Silent_p.L16L|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Silent_p.L16L|CHAT_ENST00000339797.1_Silent_p.L16L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	134					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)	GCTGCCCAAACTGCCCGTGCC	0.577																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(154-156)Ctg>Ttg		choline O-acetyltransferase	Choline(DB00122)						53	42	45					10																	50827783		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50827783C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.400C>T	10.37:g.50827783C>T						CHAT_ENST00000351556.3_Silent_p.L16L|CHAT_ENST00000337653.2_Silent_p.L134L|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Silent_p.L16L|CHAT_ENST00000455728.2_Silent_p.L16L	p.L52L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	4	623	+		all_neural(218;0.107)	134					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.154C>T	CCDS7232.1																																																																																				0.577	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		6	137	0	0	0	0.047766	0	6	137					T	50827783	C	T	50827783	2	4	82	1	0	0	0	0	0	0	0	1	3322	564	20	2		2	CHAT	10	50827783	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	39464500	50827783	84706964	85	32316											
ZMIZ1	57178	broad.mit.edu	37	chr10	81056295	81056295	+	Frame_Shift_Del	DEL	C	C	-													ccagccaggccagtacccagCccccaaccccccgaggccac							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:81056295delC	ENST00000334512.5	+	13	1870	c.1298delC	c.(1297-1299)gccfs	p.A433fs	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	433	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGTACCCAGCCCCCAACCCC	0.637																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1297-1299)gcfs		zinc finger, MIZ-type containing 1							84	94	91					10																	81056295		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81056295delC	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.1298delC	10.37:g.81056295delC	ENSP00000334474:p.Ala433fs					ZMIZ1_ENST00000478357.1_3'UTR	p.A433fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		13	1870	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		433			Pro-rich.		Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.1298delC	CCDS7357.1																																																																																				0.637	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	968						7	968	---	---	---	---	-	81056295	C	-	81056295	7	5	82	1	0	1	0	1	0	0	0	0	17749	739	26	0	1332	0	ZMIZ1	10	81056295	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	30228512	81056295	54478452	86	32317											
FAS	355	broad.mit.edu	37	chr10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-													agtgcagatgtaaaccaaacTttttttgtaactctactgta							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(397-399)ttfs		Fas cell surface death receptor							338	365	356					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768708delT	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs					FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs	p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	617	+		Colorectal(252;0.0161)	134					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.397delT	CCDS7395.1																																																																																				0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			10	2839						10	2839	---	---	---	---	-	90768708	T	-	90768708	7	5	82	1	0	1	0	1	0	0	0	0	5706	1609	56	0	411	0	FAS	10	90768708	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	9712413	90768708	44766039	87	32318											
IFIT1B	439996	broad.mit.edu	37	chr10	91143683	91143683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaggcattttctctgcacGtcctaaaacgagctgtcagg	9	10	2	0	rs147758253	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:91143683G>A	ENST00000371809.3	+	2	693	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	205										endometrium(2)|large_intestine(3)|lung(8)	13						TTCTCTGCACGTCCTAAAACG	0.448													G|||	5	0.000998403	0.0	0.0	5008	,	,		21527	0.005		0.0	False		,,,				2504	0.0					ENST00000371809.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(613-615)Gtc>Atc		interferon-induced protein with tetratricopeptide repeats 1B		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	262	272	268		613	-0.5	0	10	dbSNP_134	268	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IFIT1B	NM_001010987.2	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	205/475	91143683	3,13003	2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143683G>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.613G>A	10.37:g.91143683G>A	ENSP00000360874:p.Val205Ile					LIPA_ENST00000371837.1_Intron	p.V205I	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN			2	693	+			205					A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.613G>A	CCDS31242.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.422	0.846672	0.16963	2.27E-4	2.33E-4	ENSG00000204010	ENST00000371809	T	0.37584	1.19	3.98	-0.504	0.11997	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.472024	0.22112	U	0.064468	T	0.12050	0.0293	N	0.02802	-0.49	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.26224	-1.0109	10	0.20046	T	0.44	.	6.2199	0.20675	0.1173:0.426:0.3795:0.0773	.	205	Q5T764	IFT1B_HUMAN	I	205	ENSP00000360874:V205I	ENSP00000360874:V205I	V	+	1	0	IFIT1B	91133663	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.154000	0.03166	0.023000	0.15187	-1.605000	0.00808	GTC		0.448	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		11	1748	0	0	0	0.069234	0	11	1748					A	91143683	G	A	91143683	3	1	82	1	0	0	0	0	1	0	0	0	7552	1145	40	1	619	1	IFIT1B	10	91143683	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	374975	91143683	44391064	88	32319											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000393459.1_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		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)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	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						c.(166-168)gcfs		PDZ domain containing 7							49	58	55					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	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.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		9	686						9	686	---	---	---	---	-	102789811	G	-	102789811	7	5	82	1	0	1	0	1	0	0	0	0	11746	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	11646128	102789811	32744936	89	32320											
TACC2	10579	broad.mit.edu	37	chr10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-													caccaagaaacccacagagaCccccccagtgaaggagacgc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:123970380delC	ENST00000369005.1	+	9	6780	c.6440delC	c.(6439-6441)accfs	p.T2147fs	TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2147					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)				CCCACAGAGACCCCCCCAGTG	0.522																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6439-6441)acfs		transforming, acidic coiled-coil containing protein 2							94	107	103					10																	123970380		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970380delC	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.6440delC	10.37:g.123970380delC	ENSP00000358001:p.Thr2147fs					TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs	p.T2147fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	6780	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2147					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.6440delC	CCDS7626.1																																																																																				0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	1370						8	1370	---	---	---	---	-	123970380	C	-	123970380	7	5	82	1	0	1	0	1	0	0	0	0	15554	507	18	0	6542	0	TACC2	10	123970380	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	21180569	123970380	11564367	90	32321											
HMX2	3167	broad.mit.edu	37	chr10	124909413	124909414	+	Frame_Shift_Ins	INS	-	-	C													gtaaagacttggttccagaaINSccgccgcaacaagtggaagc					rs369511308		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:124909413_124909414insC	ENST00000339992.3	+	2	853_854	c.596_597insC	c.(595-600)aaccgcfs	p.R200fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	200					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGGTTCCAGAACCGCCGCAACA	0.649																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(595-597)acgfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909413_124909414insC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.598dupC	10.37:g.124909415_124909415dupC	ENSP00000341108:p.Arg200fs						p.T199fs	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	853_854	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	199					B2RNV5	Frame_Shift_Ins	INS	ENST00000339992.3	37	c.596_597insC	CCDS31305.1																																																																																				0.649	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		9	187						9	187	---	---	---	---	C	124909414	-	C	124909413	7	5	82	1	0	1	1	0	0	0	0	0	7277	43	2	0	602	0	HMX2	10	124909413	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	939033	124909413	10625334	91	32322											
KNDC1	85442	broad.mit.edu	37	chr10	134997481	134997481	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctctccatcgagtccttcGgagcgctgcagggtgagttc	12	13	1	1	rs545007203		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:134997481G>A	ENST00000304613.3	+	5	634	c.613G>A	c.(613-615)Gga>Aga	p.G205R	KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R|KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	205	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGAGTCCTTCGGAGCGCTGCA	0.582													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20334	0.0		0.0	False		,,,				2504	0.0					ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(613-615)Gga>Aga		kinase non-catalytic C-lobe domain (KIND) containing 1							153	128	137					10																	134997481		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134997481G>A	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.613G>A	10.37:g.134997481G>A	ENSP00000304437:p.Gly205Arg					KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R|KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R	p.G205R			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	5	634	+		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)	205			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.613G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494056	0.64186	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20598	2.54;2.54;2.06	4.15	4.15	0.48705	KIND (2);	0.492334	0.17935	U	0.157032	T	0.41766	0.1173	L	0.57536	1.79	0.38641	D	0.951614	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.41520	-0.9504	10	0.87932	D	0	-17.3865	12.7092	0.57080	0.0:0.0:1.0:0.0	.	140;205	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	R	205;205;140	ENSP00000304437:G205R;ENSP00000357561:G205R;ENSP00000357560:G140R	ENSP00000304437:G205R	G	+	1	0	KNDC1	134847471	0.995000	0.38212	0.998000	0.56505	0.682000	0.39822	3.501000	0.53325	2.255000	0.74692	0.450000	0.29827	GGA		0.582	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		13	304	0	0	0	0.09319	0	13	304					A	134997481	G	A	134997481	3	1	82	1	0	0	0	0	1	0	0	0	8456	1117	39	1	631	1	KNDC1	10	134997481	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	10088068	134997481	537266	92	32323											
CDHR5	53841	broad.mit.edu	37	chr11	618807	618807	+	Frame_Shift_Del	DEL	G	G	-													gaggtgctggttcccatactGgggggcatcggctgagaggt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:618807delG	ENST00000358353.3	-	14	2074	c.1752delC	c.(1750-1752)cccfs	p.P584fs	IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P584fs|IRF7_ENST00000397570.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	584	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCCCATACTGGGGGGCATCG	0.677																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1750-1752)ccfs		cadherin-related family member 5							103	110	108					11																	618807		2203	4300	6503	SO:0001589	frameshift_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618807delG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1752delC	11.37:g.618807delG	ENSP00000351118:p.Pro584fs					CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P584fs	p.P584fs			Q9HBB8	CDHR5_HUMAN			14	2074	-			584			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	c.1752delC	CCDS7707.1																																																																																				0.677	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		8	940						8	940	---	---	---	---	-	618807	G	-	618807	7	5	82	1	0	1	0	1	0	0	0	0	3131	1335	47	0	797	0	CDHR5	11	618807	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08		618807	134387709	93	32324											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aagagccacagccccccttgGagcccccacaggagccacaa	9	18	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAGCCCCCACA	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(313-315)tCc>tGc		keratin associated protein 5-1							35	50	45					11																	1606166		2143	4251	6394	SO:0001583	missense	387264					keratin filament		g.chr11:1606166G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.314C>G	11.37:g.1606166G>C	ENSP00000371606:p.Ser105Cys					KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.S105C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	347	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	105			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.314C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543703	0.04053	.	.	ENSG00000205869	ENST00000382171	T	0.04603	3.59	3.68	-4.47	0.03525	.	.	.	.	.	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36187	-0.9758	9	0.72032	D	0.01	.	18.0282	0.89275	0.0:0.7506:0.2494:0.0	.	105	Q6L8H4	KRA51_HUMAN	C	105	ENSP00000371606:S105C	ENSP00000371606:S105C	S	-	2	0	KRTAP5-1	1562742	0.023000	0.18921	0.001000	0.08648	0.004000	0.04260	0.000000	0.12993	-0.646000	0.05452	-0.643000	0.03959	TCC		0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		13	383	0	0	0	0.144211	0	13	383					C	1606166	G	C	1606166	3	2	82	1	0	0	0	0	1	0	0	0	8589	1174	41	5	526	5	KRTAP5-1	11	1606166	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	987359	1606166	133400350	94	32325											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606186	1606186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagcccccacaggagccacaAccccccttggatcccccaca	7	21	0	0	rs137999496		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	98	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAACCCCCCTTGG	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(292-294)ggT>ggC		keratin associated protein 5-1							35	51	46					11																	1606186		2176	4272	6448	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606186A>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.294T>C	11.37:g.1606186A>G						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G98G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	327	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	98			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.294T>C	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		25	385	0	0	0	0.139131	0	25	385					G	1606186	A	G	1606186	2	3	82	1	0	0	0	0	0	0	0	1	8589	30	2	4		4	KRTAP5-1	11	1606186	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	20	1606186	133400330	95	32326											
DENND5A	23258	broad.mit.edu	37	chr11	9225319	9225319	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaagtcaaataggggAagctcattggtacttggtct	12	6	3	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:9225319A>G	ENST00000328194.3	-	4	1157	c.837T>C	c.(835-837)ctT>ctC	p.L279L	DENND5A_ENST00000530044.1_Silent_p.L279L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	279	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAAATAGGGGAAGCTCATTGG	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(835-837)ctT>ctC		DENN/MADD domain containing 5A							71	76	75					11																	9225319		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9225319A>G	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.837T>C	11.37:g.9225319A>G						DENND5A_ENST00000530044.1_Silent_p.L279L	p.L279L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	1157	-			279			DENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.837T>C	CCDS31423.1																																																																																				0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		5	574	0	0	0	0.014758	0	5	574					G	9225319	A	G	9225319	2	3	82	1	0	0	0	0	0	0	0	1	4452	233	9	4		4	DENND5A	11	9225319	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	7619133	9225319	125781197	96	32327											
MICALCL	84953	broad.mit.edu	37	chr11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC													cacctccctgcgccaggcagINSctcctcctcctcctcctcct					rs3841216|rs573537447		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)gct>gCTCct	p.470_471insP		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.		T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			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)		GCGCCAGGCAGctcctcctcct	0.604																																						ENST00000256186.2																			0				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						c.(1366-1368)tcc>CTCtcc		MICAL C-terminal like																																				SO:0001652	inframe_insertion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316344_12316345insCTC	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.1406_1408dupCTC	11.37:g.12316351_12316353dupCTC	ENSP00000256186:p.Pro470_Pro470dup						p.455_456insL	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1657_1658	+			455					Q7RTP7|Q96JU6	In_Frame_Ins	INS	ENST00000256186.2	37	c.1366_1367insCTC	CCDS41620.1																																																																																				0.604	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		13	186						13	186	---	---	---	---	CTC	12316345	-	CTC	12316344	7	5	82	1	0	1	1	0	0	0	0	0	9613	971	34	0	1372	0	MICALCL	11	12316344	In_Frame_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	3091025	12316344	122690172	97	32328											
OR5D18	219438	broad.mit.edu	37	chr11	55587727	55587727	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctttcttgccacctttaatGaaatcagcacactactcatc	3	13	4	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:55587727G>T	ENST00000333976.4	+	1	642	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	208						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)				CACCTTTAATGAAATCAGCAC	0.448																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(622-624)Gaa>Taa		olfactory receptor, family 5, subfamily D, member 18							193	162	173					11																	55587727		2200	4296	6496	SO:0001587	stop_gained	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587727G>T	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.622G>T	11.37:g.55587727G>T	ENSP00000335025:p.Glu208*						p.E208*	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	642	+		all_epithelial(135;0.208)	208					Q6IF67|Q6IFD3|Q96RB3	Nonsense_Mutation	SNP	ENST00000333976.4	37	c.622G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.242711	0.22796	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.85	3.92	0.45320	.	1.005710	0.08015	N	0.991100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.2984	7.6562	0.28377	0.0887:0.0:0.7453:0.166	.	.	.	.	X	208	.	ENSP00000335025:E208X	E	+	1	0	OR5D18	55344303	0.000000	0.05858	0.891000	0.34965	0.219000	0.24729	0.634000	0.24614	2.462000	0.83206	0.567000	0.79289	GAA		0.448	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		14	494	1	0	1.05317e-09	0.11911	1.14331e-09	14	494					T	55587727	G	T	55587727	4	4	82	1	0	0	0	0	0	1	0	0	11199	1291	45	3	624	3	OR5D18	11	55587727	Nonsense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	43271383	55587727	79418789	98	32329											
ADRBK1	156	broad.mit.edu	37	chr11	67052434	67052435	+	Frame_Shift_Ins	INS	-	-	G													ccccaaccgcctcgagtggcINSggggcgagggcgaggccccg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:67052434_67052435insG	ENST00000308595.5	+	19	2061_2062	c.1771_1772insG	c.(1771-1773)cggfs	p.R591fs	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	591	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTCGAGTGGCGGGGCGAGGGC	0.688																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1771-1773)gggfs		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052434_67052435insG	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1775dupG	11.37:g.67052438_67052438dupG	ENSP00000312262:p.Arg591fs					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	p.G591fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		19	2061_2062	+			591			PH.		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Ins	INS	ENST00000308595.5	37	c.1771_1772insG	CCDS8156.1																																																																																				0.688	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		11	189						11	189	---	---	---	---	G	67052435	-	G	67052434	7	5	82	1	0	1	1	0	0	0	0	0	343	759	27	0	1845	0	ADRBK1	11	67052434	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	11464707	67052434	67954082	99	32330											
ARAP1	116985	broad.mit.edu	37	chr11	72422096	72422096	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggaaggcaaaggttcGgttgtttgtgatcacttcaa	12	8	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:72422096G>A	ENST00000393609.3	-	9	1385	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.R395*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	395	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCAAAGGTTCGGTTGTTTGTG	0.547																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1183-1185)Cga>Tga		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							160	128	139					11																	72422096		2200	4293	6493	SO:0001587	stop_gained	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72422096G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1183C>T	11.37:g.72422096G>A	ENSP00000377233:p.Arg395*					ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.R395*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395*	p.R395*			Q96P48	ARAP1_HUMAN			9	2034	-			395			PH 1.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	ENST00000393609.3	37	c.1183C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	45	11.461141	0.99564	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	.	.	.	5.52	4.61	0.57282	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6244	0.62155	0.0:0.0:0.8439:0.1561	.	.	.	.	X	395;395;155;150;395;150;150;184	.	ENSP00000335506:R150X	R	-	1	2	ARAP1	72099744	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.092000	0.50207	1.343000	0.45638	-0.152000	0.13540	CGA		0.547	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		31	626	0	0	0	0.153744	0	31	626					A	72422096	G	A	72422096	4	1	82	1	0	0	0	0	0	1	0	0	838	1124	39	1	3277	1	ARAP1	11	72422096	Nonsense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	5369662	72422096	62584420	100	32331											
PRDM10	56980	broad.mit.edu	37	chr11	129827738	129827738	+	Frame_Shift_Del	DEL	G	G	-													ccgtgtacaccacctgctgtGgggggcgaacctggtcatcg					rs201927504		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:129827738delG	ENST00000360871.3	-	3	368	c.137delC	c.(136-138)ccafs	p.P46fs	PRDM10_ENST00000358825.5_Frame_Shift_Del_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.P46fs	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)		CACCTGCTGTGGGGGGCGAAC	0.547																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(136-138)cafs		PR domain containing 10							253	223	234					11																	129827738		2201	4297	6498	SO:0001589	frameshift_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129827738delG	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.137delC	11.37:g.129827738delG	ENSP00000354118:p.Pro46fs					PRDM10_ENST00000360871.3_Frame_Shift_Del_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.P46fs	p.P46fs	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	3	368	-	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)	46					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Frame_Shift_Del	DEL	ENST00000360871.3	37	c.137delC	CCDS8484.1																																																																																				0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	1474						7	1474	---	---	---	---	-	129827738	G	-	129827738	7	5	82	1	0	1	0	1	0	0	0	0	12498	1348	47	0	3461	0	PRDM10	11	129827738	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	57405642	129827738	5178778	101	32332											
TEAD4	7004	broad.mit.edu	37	chr12	3131163	3131163	+	Frame_Shift_Del	DEL	T	T	-													aacggggaccctccaatgccTtttttcttgtgaagttctgg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:3131163delT	ENST00000397122.2	+	8	775	c.490delT	c.(490-492)tttfs	p.F165fs	TEAD4_ENST00000358409.2_Frame_Shift_Del_p.F251fs|TEAD4_ENST00000359864.2_Frame_Shift_Del_p.F294fs	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	294					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)			CTCCAATGCCTTTTTTCTTGT	0.542																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(877-879)ttfs		TEA domain family member 4							127	129	129					12																	3131163		2203	4300	6503	SO:0001589	frameshift_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3131163delT	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.490delT	12.37:g.3131163delT	ENSP00000380311:p.Phe165fs					TEAD4_ENST00000358409.2_Frame_Shift_Del_p.F251fs|TEAD4_ENST00000397122.2_Frame_Shift_Del_p.F165fs	p.F294fs	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		10	1067	+	Ovarian(42;0.211)		294					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Frame_Shift_Del	DEL	ENST00000397122.2	37	c.877delT	CCDS41737.1																																																																																				0.542	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		8	847						8	847	---	---	---	---	-	3131163	T	-	3131163	7	5	82	1	0	1	0	1	0	0	0	0	15793	1609	56	0	907	0	TEAD4	12	3131163	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		3131163	130720732	102	32333											
C3AR1	719	broad.mit.edu	37	chr12	8211546	8211546	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acatgatcccaggacatcagAgttttccccaagggagtttc	9	11	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:8211546A>C	ENST00000307637.4	-	2	1439	c.1236T>G	c.(1234-1236)acT>acG	p.T412T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	412					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)		AGGACATCAGAGTTTTCCCCA	0.468																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1234-1236)acT>acG		complement component 3a receptor 1							87	80	83					12																	8211546		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211546A>C	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.1236T>G	12.37:g.8211546A>C							p.T412T	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1439	-			412					O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.1236T>G	CCDS8588.1																																																																																				0.468	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			10	282	0	0	0	0.058154	0	10	282					C	8211546	A	C	8211546	2	2	82	1	0	0	0	0	0	0	0	1	2212	291	11	4		4	C3AR1	12	8211546	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	5080383	8211546	125640349	103	32334											
PRB3	5544	broad.mit.edu	37	chr12	11420929	11420929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgggactggtttcctCcttgtgggggtggtccttct	14	10	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:11420929C>T	ENST00000279573.7	-	3	389	c.254G>A	c.(253-255)gGa>gAa	p.G85E	PRB3_ENST00000538488.1_Missense_Mutation_p.G85E|PRB3_ENST00000381842.3_Missense_Mutation_p.G85E|PRB3_ENST00000440870.3_5'UTR			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	85	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)			CTGGTTTCCTCCTTGTGGGGG	0.632																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							141	174	163					12																	11420929		2126	4246	6372	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420929C>T			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.254G>A	12.37:g.11420929C>T	ENSP00000279573:p.Gly85Glu					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	291	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	5.982	0.365151	0.11296	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05786	3.39;3.39	0.948	0.948	0.19561	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.61658	0.892	T	0.23154	-1.0196	8	0.35671	T	0.21	.	3.2489	0.06807	0.0:0.7096:0.0:0.2904	.	85	Q04118	PRB3_HUMAN	E	85	ENSP00000371264:G85E;ENSP00000442626:G85E	ENSP00000279573:G85E	G	-	2	0	PRB3	11312196	0.000000	0.05858	0.016000	0.15963	0.094000	0.18550	-0.274000	0.08537	0.819000	0.34492	0.194000	0.17425	GGA		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		12	1942	0	0	0	0.021553	0	12	1942					T	11420929	C	T	11420929	3	4	82	1	0	0	0	0	1	0	0	0	12491	855	30	2	683	2	PRB3	12	11420929	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	3209383	11420929	122430966	104	32335											
RERG	85004	broad.mit.edu	37	chr12	15262412	15262412	+	Frame_Shift_Del	DEL	C	C	-													gtagaccagcacaaagccttCcccccatcgcatgtgcccct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:15262412delC	ENST00000256953.2	-	5	568	c.232delG	c.(232-234)gaafs	p.E78fs	RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000546331.1_Frame_Shift_Del_p.E59fs|RERG_ENST00000538313.1_Frame_Shift_Del_p.E78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	78					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ACAAAGCCTTCCCCCCATCGC	0.458																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(232-234)aafs		RAS-like, estrogen-regulated, growth inhibitor							293	301	298					12																	15262412		2203	4300	6503	SO:0001589	frameshift_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262412delC	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.232delG	12.37:g.15262412delC	ENSP00000256953:p.Glu78fs					RERG_ENST00000538313.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000536465.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000546331.1_Frame_Shift_Del_p.E59fs	p.E78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	568	-			78					B2R9R0|B4DI02	Frame_Shift_Del	DEL	ENST00000256953.2	37	c.232delG	CCDS8673.1																																																																																				0.458	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		7	2284						7	2284	---	---	---	---	-	15262412	C	-	15262412	7	5	82	1	0	1	0	1	0	0	0	0	13282	864	30	0	371	0	RERG	12	15262412	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	3841483	15262412	118589483	105	32336											
CAPZA3	93661	broad.mit.edu	37	chr12	18891852	18891852	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcttggaaatagttaAccaagctcaactggctctaa	8	8	2	1	rs374397815		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:18891852A>G	ENST00000317658.3	+	1	808	c.650A>G	c.(649-651)aAc>aGc	p.N217S	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	217					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAATAGTTAACCAAGCTCAA	0.398																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(649-651)aAc>aGc		capping protein (actin filament) muscle Z-line, alpha 3		A	SER/ASN	0,4406		0,0,2203	64	66	65		650	4.8	1	12		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAPZA3	NM_033328.2	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	217/300	18891852	1,13005	2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891852A>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.650A>G	12.37:g.18891852A>G	ENSP00000326238:p.Asn217Ser						p.N217S	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	808	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	217					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.650A>G	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972165	0.53614	0.0	1.16E-4	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.288858	0.31673	N	0.007253	T	0.61850	0.2380	L	0.41906	1.305	0.37992	D	0.933951	D	0.59767	0.986	P	0.58928	0.848	T	0.65158	-0.6236	9	0.40728	T	0.16	-22.2602	11.8334	0.52309	1.0:0.0:0.0:0.0	.	217	Q96KX2	CAZA3_HUMAN	S	217	.	ENSP00000326238:N217S	N	+	2	0	CAPZA3	18783119	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.478000	0.66806	2.021000	0.59480	0.379000	0.24179	AAC		0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	250	0	0	0	0.038147	0	8	250					G	18891852	A	G	18891852	3	3	82	1	0	0	0	0	1	0	0	0	2649	43	2	4	652	4	CAPZA3	12	18891852	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	3629440	18891852	114960043	106	32337											
DIP2B	57609	broad.mit.edu	37	chr12	51065103	51065103	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtccacttcttcatccGcatcttctacgctgtcccac	5	17	4	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:51065103G>A	ENST00000301180.5	+	5	596	c.562G>A	c.(562-564)Gca>Aca	p.A188T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	188	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						TTCTTCATCCGCATCTTCTAC	0.517																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(562-564)Gca>Aca		DIP2 disco-interacting protein 2 homolog B (Drosophila)							144	123	130					12																	51065103		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51065103G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.562G>A	12.37:g.51065103G>A	ENSP00000301180:p.Ala188Thr						p.A188T	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			5	596	+			188			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.562G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008645	0.75046	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.25250	1.81	5.26	5.26	0.73747	.	0.044471	0.85682	D	0.000000	T	0.39517	0.1081	L	0.46614	1.455	0.80722	D	1	B;D	0.76494	0.325;0.999	B;P	0.57152	0.085;0.814	T	0.01791	-1.1273	10	0.27082	T	0.32	-15.8058	19.1286	0.93396	0.0:0.0:1.0:0.0	.	188;198	Q9P265;E9PHD6	DIP2B_HUMAN;.	T	198;188	ENSP00000301180:A188T	ENSP00000301180:A188T	A	+	1	0	DIP2B	49351370	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.260000	0.95568	2.758000	0.94735	0.586000	0.80456	GCA		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	498	0	0	0	0.014758	0	5	498					A	51065103	G	A	51065103	3	1	82	1	0	0	0	0	1	0	0	0	4544	1087	38	1	580	1	DIP2B	12	51065103	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	32173251	51065103	82786792	107	32338											
KRT7	3855	broad.mit.edu	37	chr12	52639299	52639299	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggaagccgccctgcagcGgggcaagcaggatatggcac	16	12	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:52639299G>T	ENST00000331817.5	+	7	1271	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	363	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GCCCTGCAGCGGGGCAAGCAG	0.647																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1087-1089)cGg>cTg		keratin 7							47	48	48					12																	52639299		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639299G>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1088G>T	12.37:g.52639299G>T	ENSP00000329243:p.Arg363Leu					RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	p.R363L	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	7	1271	+			363			Coil 2.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.1088G>T	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739868	0.30865	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	D	0.89050	-2.46	4.4	1.11	0.20524	Filament (1);	1.896280	0.03317	N	0.191374	D	0.86447	0.5935	L	0.47190	1.495	0.29184	N	0.876328	P	0.43701	0.815	B	0.40477	0.33	T	0.75634	-0.3250	10	0.87932	D	0	.	8.4518	0.32875	0.7315:0.0:0.2685:0.0	.	363	P08729	K2C7_HUMAN	L	363;339	ENSP00000329243:R363L	ENSP00000329243:R363L	R	+	2	0	KRT7	50925566	0.867000	0.29959	0.022000	0.16811	0.005000	0.04900	1.090000	0.30902	0.096000	0.17463	-0.258000	0.10820	CGG		0.647	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		5	442	1	0	0.00116845	0.021553	0.00120856	5	442					T	52639299	G	T	52639299	3	4	82	1	0	0	0	0	1	0	0	0	8513	1116	39	3	1114	3	KRT7	12	52639299	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1574196	52639299	81212596	108	32339											
ESPL1	9700	broad.mit.edu	37	chr12	53663328	53663328	+	Frame_Shift_Del	DEL	C	C	-													agcctgtcgagcggtagctgCccatcagctatttgatgcca							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:53663328delC	ENST00000257934.4	+	3	693	c.602delC	c.(601-603)gccfs	p.A201fs	ESPL1_ENST00000552462.1_Frame_Shift_Del_p.A201fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	201					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						GCGGTAGCTGCCCATCAGCTA	0.527																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				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						c.(601-603)gcfs		extra spindle pole bodies homolog 1 (S. cerevisiae)							238	242	240					12																	53663328		2203	4300	6503	SO:0001589	frameshift_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663328delC	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.602delC	12.37:g.53663328delC	ENSP00000257934:p.Ala201fs					ESPL1_ENST00000552462.1_Frame_Shift_Del_p.A201fs	p.A201fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	693	+			201						Frame_Shift_Del	DEL	ENST00000257934.4	37	c.602delC	CCDS8852.1																																																																																				0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		8	1990						8	1990	---	---	---	---	-	53663328	C	-	53663328	7	5	82	1	0	1	0	1	0	0	0	0	5271	739	26	0	608	0	ESPL1	12	53663328	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	1024029	53663328	80188567	109	32340											
TSFM	25895	broad.mit.edu	37	chr12	58177051	58177052	+	IGR	INS	-	-	G													aagctctggagacttgtggcINSggggacctcaaacaggtgtg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:58177051_58177052insG	ENST00000300209.8	+	0	2563				TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000454289.3_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000497617.1_3'UTR	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						AGACTTGTGGCGGGGACCTCAA	0.569																																						ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(214-219)gggggafs		Ts translation elongation factor, mitochondrial			,,,	17,4247		0,17,2115					,,,	1.2	1			107	33,8221		0,33,4094	no	frameshift,frameshift,frameshift,frameshift	TSFM	NM_005726.5,NM_001172697.1,NM_001172696.1,NM_001172695.1	,,,	0,50,6209	A1A1,A1R,RR		0.3998,0.3987,0.3994	,,,	,,,		50,12468				SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58177051_58177052insG	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.58177055_58177055dupG						TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000350762.5_5'UTR	p.GG72fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN			2	429_430	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		72					Q9H749|Q9Y3W2	Frame_Shift_Ins	INS	ENST00000300209.8	37	c.216_217insG	CCDS8957.1																																																																																				0.569	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		9	1061						9	1061	---	---	---	---	G	58177052	-	G	58177051	6	5	82	0	1	1	1	0	0	0	0	0	16668	755	27	0		0	TSFM	12	58177051	IGR	INS	-	TCGA-IB-8126-01A-11D-2396-08	4513723	58177051	75674844	110	32341											
HSP90B1	7184	broad.mit.edu	37	chr12	104327988	104327988	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aacaacgatacccagcacatCtgggagtctgactccaatga	8	12	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:104327988C>A	ENST00000299767.5	+	5	848	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	222					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCCAGCACATCTGGGAGTCTG	0.433																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(664-666)atC>atA		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						85	80	82					12																	104327988		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104327988C>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.666C>A	12.37:g.104327988C>A							p.I222I	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			5	848	+			222					Q96A97	Silent	SNP	ENST00000299767.5	37	c.666C>A	CCDS9094.1																																																																																				0.433	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		11	276	1	0	0.000673444	0.069234	0.000699569	11	276					A	104327988	C	A	104327988	2	1	82	1	0	0	0	0	0	0	0	1	7433	903	32	3		3	HSP90B1	12	104327988	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	46150937	104327988	29523907	111	32342											
RASAL1	8437	broad.mit.edu	37	chr12	113565943	113565943	+	Frame_Shift_Del	DEL	C	C	-													caggtgcaccgtgtactcctCcccccagaaggggcccaggc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:113565943delC	ENST00000261729.5	-	4	478	c.163delG	c.(163-165)gagfs	p.E56fs	RASAL1_ENST00000546530.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	56	C2 1. {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)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTACTCCTCCCCCCAGAAG	0.617																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)agfs		RAS protein activator like 1 (GAP1 like)							182	182	182					12																	113565943		2203	4300	6503	SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565943delC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"Pleckstrin homology (PH) domain containing"	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.163delG	12.37:g.113565943delC	ENSP00000261729:p.Glu56fs					RASAL1_ENST00000261729.5_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000418411.2_5'UTR	p.E56fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			4	448	-			56			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Del	DEL	ENST00000261729.5	37	c.163delG	CCDS9165.1																																																																																				0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		7	1787						7	1787	---	---	---	---	-	113565943	C	-	113565943	7	5	82	1	0	1	0	1	0	0	0	0	13113	864	30	0	2327	0	RASAL1	12	113565943	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	9237955	113565943	20285952	112	32343											
CCDC60	160777	broad.mit.edu	37	chr12	119942961	119942961	+	Frame_Shift_Del	DEL	G	G	-													tcagtctgagtcgggccagtGgggggtcctctccccagagc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:119942961delG	ENST00000327554.2	+	7	1201	c.736delG	c.(736-738)gggfs	p.G247fs	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	247										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)		TCGGGCCAGTGGGGGGTCCTC	0.562																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(736-738)ggfs		coiled-coil domain containing 60							99	106	104					12																	119942961		2203	4300	6503	SO:0001589	frameshift_variant	160777							g.chr12:119942961delG	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.736delG	12.37:g.119942961delG	ENSP00000333374:p.Gly247fs					RP11-768F21.1_ENST00000509470.2_lincRNA	p.G247fs	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1201	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		247						Frame_Shift_Del	DEL	ENST00000327554.2	37	c.736delG	CCDS9190.1																																																																																				0.562	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		7	996						7	996	---	---	---	---	-	119942961	G	-	119942961	7	5	82	1	0	1	0	1	0	0	0	0	2838	1348	47	0	762	0	CCDC60	12	119942961	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	6377018	119942961	13908934	113	32344											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa					rs188092231|rs369463367		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		10	641						10	641	---	---	---	---	-	121017156	CTC	-	121017154	7	5	82	1	0	1	0	1	0	0	0	0	12295	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-IB-8126-01A-11D-2396-08	1074193	121017154	12834741	114	32345											
CCDC70	83446	broad.mit.edu	37	chr13	52439917	52439917	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggaggataaggccTtctggaaagaggacaatgcc	14	7	2	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:52439917T>A	ENST00000242819.4	+	2	699	c.403T>A	c.(403-405)Ttc>Atc	p.F135I		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	135						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGATAAGGCCTTCTGGAAAGA	0.478																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(403-405)Ttc>Atc		coiled-coil domain containing 70							122	134	130					13																	52439917		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439917T>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.403T>A	13.37:g.52439917T>A	ENSP00000242819:p.Phe135Ile						p.F135I	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	699	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	135					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.403T>A	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949934	0.34377	.	.	ENSG00000123171	ENST00000242819	T	0.20738	2.05	5.78	-0.997	0.10215	.	0.097664	0.45606	D	0.000357	T	0.30230	0.0758	M	0.70595	2.14	0.09310	N	1	D	0.56287	0.975	P	0.53035	0.716	T	0.17077	-1.0381	10	0.42905	T	0.14	-25.4087	10.0609	0.42275	0.0:0.3629:0.0:0.6371	.	135	Q6NSX1	CCD70_HUMAN	I	135	ENSP00000242819:F135I	ENSP00000242819:F135I	F	+	1	0	CCDC70	51337918	0.963000	0.33076	0.000000	0.03702	0.005000	0.04900	1.723000	0.38053	-0.085000	0.12573	-0.256000	0.11100	TTC		0.478	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		44	947	0	0	0	0.092188	0	44	947					A	52439917	T	A	52439917	3	1	82	1	0	0	0	0	1	0	0	0	2850	1609	56	5	405	5	CCDC70	13	52439917	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08		52439917	62729961	115	32346											
RIN3	79890	broad.mit.edu	37	chr14	93118772	93118772	+	Frame_Shift_Del	DEL	C	C	-													ccaaacaacccccagtcccgCcccccaggaaaaaacggatc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:93118772delC	ENST00000216487.7	+	6	1537	c.1378delC	c.(1378-1380)cccfs	p.P461fs	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	461	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCAGTCCCGCCCCCCAGGAA	0.622																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1378-1380)ccfs		Ras and Rab interactor 3							91	115	107					14																	93118772		2203	4300	6503	SO:0001589	frameshift_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118772delC	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.1378delC	14.37:g.93118772delC	ENSP00000216487:p.Pro461fs					RIN3_ENST00000418924.2_3'UTR	p.P461fs	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1537	+		all_cancers(154;0.0701)	461			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Del	DEL	ENST00000216487.7	37	c.1378delC	CCDS32144.1																																																																																				0.622	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			8	752						8	752	---	---	---	---	-	93118772	C	-	93118772	7	5	82	1	0	1	0	1	0	0	0	0	13423	739	26	0	1400	0	RIN3	14	93118772	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08		93118772	14230768	116	32347											
KIAA1409	57578	broad.mit.edu	37	chr14	94004400	94004400	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggtgctgtggtcgtcaCggaaacaggcctgttcggta	16	9	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:94004400C>T	ENST00000393151.2	+	12	1188	c.1188C>T	c.(1186-1188)caC>caT	p.H396H	UNC79_ENST00000256339.4_Silent_p.H219H|UNC79_ENST00000553484.1_Silent_p.H396H|UNC79_ENST00000555664.1_Silent_p.H396H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	396					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGGTCGTCACGGAAACAGGC	0.502																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1186-1188)caC>caT		unc-79 homolog (C. elegans)							80	76	77					14																	94004400		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94004400C>T	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.1188C>T	14.37:g.94004400C>T						UNC79_ENST00000256339.4_Silent_p.H219H|UNC79_ENST00000555664.1_Silent_p.H396H|UNC79_ENST00000393151.2_Silent_p.H396H	p.H396H			Q9P2D8	UNC79_HUMAN			12	1342	+			396					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1188C>T																																																																																					0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	334	0	0	0	0.038147	0	7	334					T	94004400	C	T	94004400	2	4	82	1	0	0	0	0	0	0	0	1	8260	535	19	1		1	KIAA1409	14	94004400	Silent	SNP	C	TCGA-IB-8126-01A-11D-2396-08	885628	94004400	13345140	117	32348											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		15	939						15	939	---	---	---	---	-	34393993	AGC	-	34393991	7	5	82	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-IB-8126-01A-11D-2396-08		34393991	68137401	118	32349											
TGM5	9333	broad.mit.edu	37	chr15	43527834	43527834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatcctggcccatgttgggcGggtcgagcagcttgaatttc	13	10	0	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:43527834G>A	ENST00000220420.5	-	10	1554	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	TGM5_ENST00000349114.4_Missense_Mutation_p.P434L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	516					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)	CATGTTGGGCGGGTCGAGCAG	0.567																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1546-1548)cCg>cTg		transglutaminase 5	L-Glutamine(DB00130)						108	90	96					15																	43527834		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527834G>A	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.1547C>T	15.37:g.43527834G>A	ENSP00000220420:p.Pro516Leu					TGM5_ENST00000349114.4_Missense_Mutation_p.P434L	p.P516L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1554	-		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)	516					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1547C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411308	0.11812	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68624	-0.34;-0.34	5.58	3.58	0.41010	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.439796	0.24666	N	0.036588	T	0.54838	0.1883	L	0.47016	1.485	0.09310	N	1	B;B	0.30937	0.136;0.301	B;B	0.24269	0.024;0.052	T	0.49041	-0.8980	10	0.39692	T	0.17	-0.4586	10.2275	0.43233	0.0:0.1477:0.6995:0.1528	.	434;516	O43548-2;O43548	.;TGM5_HUMAN	L	516;434;515	ENSP00000220420:P516L;ENSP00000220419:P434L	ENSP00000220420:P516L	P	-	2	0	TGM5	41315126	0.094000	0.21725	0.008000	0.14137	0.083000	0.17756	2.334000	0.43920	1.351000	0.45789	-0.165000	0.13383	CCG		0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	235	0	0	0	0.09319	0	11	235					A	43527834	G	A	43527834	3	1	82	1	0	0	0	0	1	0	0	0	15885	1116	39	1	631	1	TGM5	15	43527834	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	9133843	43527834	59003558	119	32350											
MESDC2	23184	broad.mit.edu	37	chr15	81281974	81281976	+	In_Frame_Del	DEL	CTT	CTT	-													tcattgtaatcgcgaatatcCttcttcttcttccggggagg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81281974_81281976delCTT	ENST00000261758.4	-	1	243_245	c.157_159delAAG	c.(157-159)aagdel	p.K53del	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	53	Chaperone 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						CGCGAATATCCTTCTTCTTCTTC	0.655																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(157-159)del		mesoderm development candidate 2																																				SO:0001651	inframe_deletion	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81281974_81281976delCTT	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.157_159delAAG	15.37:g.81281983_81281985delCTT	ENSP00000261758:p.Lys53del						p.K53del	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN			1	243_245	-			53			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	In_Frame_Del	DEL	ENST00000261758.4	37	c.157_159delAAG	CCDS32308.1																																																																																				0.655	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		7	430						7	430	---	---	---	---	-	81281976	CTT	-	81281974	7	5	82	1	0	1	0	1	0	0	0	0	9522	680	24	0	557	0	MESDC2	15	81281974	In_Frame_Del	DEL	CTT	TCGA-IB-8126-01A-11D-2396-08	37754140	81281974	21249418	120	32351											
IL16	3603	broad.mit.edu	37	chr15	81592482	81592482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaactctcccccctggcccgGacccgctcctaaggctgctg	9	19	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81592482G>A	ENST00000302987.4	+	13	2815	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	IL16_ENST00000394652.2_Missense_Mutation_p.D238N|IL16_ENST00000394660.2_Missense_Mutation_p.D939N			Q14005	IL16_HUMAN	interleukin 16	939					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCCTGGCCCGGACCCGCTCCT	0.657																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2815-2817)Gac>Aac		interleukin 16							28	33	31					15																	81592482		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592482G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2815G>A	15.37:g.81592482G>A	ENSP00000302935:p.Asp939Asn					IL16_ENST00000394652.2_Missense_Mutation_p.D238N|IL16_ENST00000302987.4_Missense_Mutation_p.D939N	p.D939N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3175	+			939					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2815G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211166	0.79240	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.11495	2.77;2.78;3.37	4.85	4.85	0.62838	.	0.267702	0.26731	N	0.022788	T	0.24928	0.0605	L	0.46157	1.445	0.36294	D	0.856591	D;D;D;D;B;D	0.89917	0.997;0.965;1.0;1.0;0.166;0.991	P;P;D;D;B;P	0.83275	0.844;0.703;0.994;0.996;0.017;0.798	T	0.08126	-1.0737	10	0.62326	D	0.03	.	11.7533	0.51862	0.0853:0.0:0.9147:0.0	.	771;432;476;329;939;939	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	N	939;771;939;476;329;238;238	ENSP00000378155:D939N;ENSP00000302935:D939N;ENSP00000378147:D238N	ENSP00000302935:D939N	D	+	1	0	IL16	79379537	0.986000	0.35501	0.367000	0.25926	0.037000	0.13140	3.537000	0.53590	2.236000	0.73375	0.655000	0.94253	GAC		0.657	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		6	296	0	0	0	0.021553	0	6	296					A	81592482	G	A	81592482	3	1	82	1	0	0	0	0	1	0	0	0	7663	1174	41	2	2865	2	IL16	15	81592482	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	310508	81592482	20938910	121	32352											
SOLH	6650	broad.mit.edu	37	chr16	601540	601540	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccgaaacccgtggggcCgtttctcctggaacggcagc	14	14	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:601540C>T	ENST00000219611.2	+	9	2584	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	741	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				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)										CCCGTGGGGCCGTTTCTCCTG	0.672																																						ENST00000219611.2																			0											c.(2221-2223)Cgt>Tgt		calpain 15							61	66	65					16																	601540		2200	4295	6495	SO:0001583	missense	6650							g.chr16:601540C>T	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.2221C>T	16.37:g.601540C>T	ENSP00000219611:p.Arg741Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.R741C	NM_005632.2	NP_005623.1					9	2584	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2221C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	32	5.111900	0.94339	.	.	ENSG00000103326	ENST00000219611	D	0.87966	-2.32	5.26	5.26	0.73747	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91459	0.7304	L	0.45470	1.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92323	0.5867	10	0.87932	D	0	.	17.4216	0.87516	0.0:1.0:0.0:0.0	.	741	O75808	CAN15_HUMAN	C	741	ENSP00000219611:R741C	ENSP00000219611:R741C	R	+	1	0	SOLH	541541	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.883000	0.69721	2.463000	0.83235	0.556000	0.70494	CGT		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		8	566	0	0	0	0.047766	0	8	566					T	601540	C	T	601540	3	4	82	1	0	0	0	0	1	0	0	0	14975	652	23	1	2243	1	SOLH	16	601540	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		601540	89753213	122	32353											
GRIN2A	2903	broad.mit.edu	37	chr16	9862737	9862737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaagagcaacccaggccGgtcggagcacacgcccgtga	15	13	0	3	rs201072838	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:9862737G>A	ENST00000396573.2	-	13	2875	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	856					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)	AACCCAGGCCGGTCGGAGCAC	0.567																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2566-2568)Cgg>Tgg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						90	94	93					16																	9862737		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862737G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2566C>T	16.37:g.9862737G>A	ENSP00000379818:p.Arg856Trp					GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W	p.R856W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			13	2875	-			856					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2566C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066263	0.76187	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.44	3.33	0.38152	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.155509	0.56097	D	0.000031	T	0.28928	0.0718	M	0.64997	1.995	0.37896	D	0.930866	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70016	0.944;0.967;0.913	T	0.04885	-1.0920	9	.	.	.	.	9.4317	0.38615	0.0:0.0:0.5699:0.4301	.	699;856;856	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	856;856;699;856;856	ENSP00000379818:R856W;ENSP00000385872:R856W;ENSP00000441572:R699W;ENSP00000332549:R856W;ENSP00000379820:R856W	.	R	-	1	2	GRIN2A	9770238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.673000	0.61604	2.170000	0.68504	0.563000	0.77884	CGG		0.567	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			17	813	0	0	0	0.175082	0	17	813					A	9862737	G	A	9862737	3	1	82	1	0	0	0	0	1	0	0	0	6809	1115	39	1	1836	1	GRIN2A	16	9862737	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	9261197	9862737	80492016	123	32354											
SBK1	388228	broad.mit.edu	37	chr16	28331735	28331735	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacttcccgtgggaggcggcGtcgggcgccgacgccttctt	15	14	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:28331735G>A	ENST00000341901.4	+	4	1557	c.768G>A	c.(766-768)gcG>gcA	p.A256A		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						GGGAGGCGGCGTCGGGCGCCG	0.746																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(766-768)gcG>gcA		SH3 domain binding kinase 1							13	21	18					16																	28331735		2083	4197	6280	SO:0001819	synonymous_variant	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331735G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"SH3-binding domain kinase 1"				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.768G>A	16.37:g.28331735G>A							p.A256A	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1557	+			256			Protein kinase.			Silent	SNP	ENST00000341901.4	37	c.768G>A	CCDS32416.1																																																																																				0.746	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		11	160	0	0	0	0.09319	0	11	160					A	28331735	G	A	28331735	2	1	82	1	0	0	0	0	0	0	0	1	13910	1132	40	1		1	SBK1	16	28331735	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	18468998	28331735	62023018	124	32355											
SALL1	6299	broad.mit.edu	37	chr16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgccgccgccgctgcTgctgctgctgctgctgctgc	14	18	0	0	rs139646526	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:51175661T>C	ENST00000251020.4	-	2	505	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S61G|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.				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)			ccgccgctgctgctgctgctg	0.632													t|||	22	0.00439297	0.0113	0.0043	5008	,	,		12583	0.002		0.002	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(181-183)Agc>Ggc		spalt-like transcription factor 1		C	GLY/SER,GLY/SER	15,4347		0,15,2166	22	25	24		472,181	-0.4	0	16	dbSNP_134	24	6,8538		0,6,4266	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	0,21,6432	CC,CT,TT		0.0702,0.3439,0.1627	benign,benign	158/1325,61/1228	51175661	21,12885	2181	4272	6453	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175661T>C	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.472A>G	16.37:g.51175661T>C	ENSP00000251020:p.Ser158Gly					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G	p.S61G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	612	-		all_cancers(37;0.0322)	158					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.181A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-4.558861	0.00000	0.003439	7.02E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.35;3.34	0.225	-0.451	0.12214	.	0.955374	0.08430	N	0.947112	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.44390	-0.9331	9	0.16896	T	0.51	.	.	.	.	.	158	Q9NSC2	SALL1_HUMAN	G	158;61;122	ENSP00000251020:S158G;ENSP00000407914:S61G	ENSP00000251020:S158G	S	-	1	0	SALL1	49733162	0.610000	0.26983	0.003000	0.11579	0.002000	0.02628	0.506000	0.22658	-2.764000	0.00368	-2.812000	0.00111	AGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		5	251	0	0	0	0.02938	0	5	251					C	51175661	T	C	51175661	3	2	82	1	0	0	0	0	1	0	0	0	13860	1580	55	4	3510	4	SALL1	16	51175661	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	22843926	51175661	39179092	125	32356											
HSD17B2	3294	broad.mit.edu	37	chr16	82131809	82131809	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcctcctattgatcaActcgttagccagcaaggact	7	11	1	1	rs529224978		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:82131809A>G	ENST00000199936.4	+	5	1125	c.932A>G	c.(931-933)aAc>aGc	p.N311S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	311					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CTATTGATCAACTCGTTAGCC	0.542													a|||	1	0.000199681	0.0008	0.0	5008	,	,		17915	0.0		0.0	False		,,,				2504	0.0					ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(931-933)aAc>aGc		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						174	132	146					16																	82131809		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131809A>G		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5211	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 2"	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.932A>G	16.37:g.82131809A>G	ENSP00000199936:p.Asn311Ser					RP11-510J16.5_ENST00000567021.1_RNA	p.N311S	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1125	+			311					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.932A>G	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	a	5.085	0.201396	0.09652	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.57	-9.36	0.00629	NAD(P)-binding domain (1);	2.782280	0.00732	N	0.000947	T	0.56645	0.1999	N	0.11064	0.09	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.57740	-0.7759	10	0.08837	T	0.75	.	0.9019	0.01276	0.281:0.2882:0.2436:0.1872	.	311	P37059	DHB2_HUMAN	S	311	ENSP00000199936:N311S	ENSP00000199936:N311S	N	+	2	0	HSD17B2	80689310	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.845000	0.01677	-1.859000	0.01156	0.533000	0.62120	AAC		0.542	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		20	502	0	0	0	0.049695	0	20	502					G	82131809	A	G	82131809	3	3	82	1	0	0	0	0	1	0	0	0	7414	43	2	4	950	4	HSD17B2	16	82131809	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	30956148	82131809	8222944	126	32357											
CDT1	81620	broad.mit.edu	37	chr16	88871873	88871873	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggcgcccgcctaccagCgcttccatgccctggcccag	11	18	0	1	rs3218727	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:88871873C>T	ENST00000301019.4	+	4	1133	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGCCTACCAGCGCTTCCATGC	0.677													C|||	8	0.00159744	0.0061	0.0	5008	,	,		14178	0.0		0.0	False		,,,				2504	0.0				Melanoma(159;511 3380 30971)	ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(514-516)Cgc>Tgc		chromatin licensing and DNA replication factor 1		C	CYS/ARG	15,4381	22.3+/-47.3	1,13,2184	31	37	35		514	3.7	1	16	dbSNP_106	35	0,8590		0,0,4295	yes	missense	CDT1	NM_030928.3	180	1,13,6479	TT,TC,CC		0.0,0.3412,0.1155	probably-damaging	172/547	88871873	15,12971	2198	4295	6493	SO:0001583	missense	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88871873C>T	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.514C>T	16.37:g.88871873C>T	ENSP00000301019:p.Arg172Cys						p.R172C	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	4	1133	+			172		R -> C (in dbSNP:rs3218727).	Interaction with GMNN.			Missense_Mutation	SNP	ENST00000301019.4	37	c.514C>T	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644116	0.87859	0.003412	0.0	ENSG00000167513	ENST00000301019	T	0.28255	1.62	4.68	3.66	0.41972	.	0.111388	0.64402	D	0.000007	T	0.56217	0.1970	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64089	-0.6489	10	0.87932	D	0	-22.4772	15.3458	0.74337	0.0:0.8602:0.1398:0.0	rs3218727	172	Q9H211	CDT1_HUMAN	C	172	ENSP00000301019:R172C	ENSP00000301019:R172C	R	+	1	0	CDT1	87399374	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.838000	0.55828	2.319000	0.78375	0.462000	0.41574	CGC		0.677	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		9	348	0	0	0	0.069234	0	9	348					T	88871873	C	T	88871873	3	4	82	1	0	0	0	0	1	0	0	0	3189	768	27	1	528	1	CDT1	16	88871873	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	6740064	88871873	1482880	127	32358											
INCA1	388324	broad.mit.edu	37	chr17	4892795	4892795	+	Frame_Shift_Del	DEL	C	C	-													ccctcacccgggcggggactCccccaaggccctgctgctgc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:4892795delC	ENST00000574617.1	-	6	678	c.323delG	c.(322-324)ggafs	p.G108fs	INCA1_ENST00000396829.2_Frame_Shift_Del_p.G108fs|RP5-1050D4.5_ENST00000574260.1_RNA|CAMTA2_ENST00000572543.1_5'Flank|INCA1_ENST00000355025.3_Frame_Shift_Del_p.G93fs|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000414043.3_5'Flank|CAMTA2_ENST00000348066.3_5'Flank|INCA1_ENST00000575780.1_Frame_Shift_Del_p.G93fs|INCA1_ENST00000576820.1_Frame_Shift_Del_p.G108fs|CAMTA2_ENST00000358183.4_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000381311.5_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	108					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						GGCGGGGACTCCCCCAAGGCC	0.572																																						ENST00000396829.2																			0				upper_aerodigestive_tract(1)	1						c.(322-324)gafs		inhibitor of CDK, cyclin A1 interacting protein 1							142	160	154					17																	4892795		2203	4300	6503	SO:0001589	frameshift_variant	388324					nucleus		g.chr17:4892795delC	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.323delG	17.37:g.4892795delC	ENSP00000458316:p.Gly108fs					INCA1_ENST00000355025.3_Frame_Shift_Del_p.G93fs|INCA1_ENST00000575780.1_Frame_Shift_Del_p.G93fs|INCA1_ENST00000574617.1_Frame_Shift_Del_p.G108fs|INCA1_ENST00000576820.1_Frame_Shift_Del_p.G108fs	p.G108fs	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN			7	889	-			108					Q6J273|Q6PKN9	Frame_Shift_Del	DEL	ENST00000574617.1	37	c.323delG	CCDS54074.1																																																																																				0.572	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1	NM_213726		7	1301						7	1301	---	---	---	---	-	4892795	C	-	4892795	7	5	82	1	0	1	0	1	0	0	0	0	7762	855	30	0	399	0	INCA1	17	4892795	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08		4892795	76302415	128	32359											
KIAA0100	9703	broad.mit.edu	37	chr17	26946933	26946933	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatttgggccacatgctgcCgcacagcctcctgcaaatgc	10	14	0	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:26946933C>T	ENST00000528896.2	-	30	5539	c.5465G>A	c.(5464-5466)cGg>cAg	p.R1822Q	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1822						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)					CACATGCTGCCGCACAGCCTC	0.493																																						ENST00000528896.2																			0				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						c.(5464-5466)cGg>cAg		KIAA0100							100	91	94					17																	26946933		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26946933C>T	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.5465G>A	17.37:g.26946933C>T	ENSP00000436773:p.Arg1822Gln					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q	p.R1822Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			30	5539	-	Lung NSC(42;0.00431)		1822					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5465G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208479	0.95069	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.53423	0.62;0.62	5.53	5.53	0.82687	FMP27,  C-terminal (1);	0.051185	0.64402	D	0.000001	T	0.71576	0.3356	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69826	-0.5040	10	0.38643	T	0.18	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	1822	Q14667	K0100_HUMAN	Q	1822;1792;1822;1679	ENSP00000436773:R1822Q;ENSP00000446443:R1679Q	ENSP00000005905:R1822Q	R	-	2	0	KIAA0100	23971060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.448000	0.66612	2.768000	0.95171	0.655000	0.94253	CGG		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		13	383	0	0	0	0.09319	0	13	383					T	26946933	C	T	26946933	3	4	82	1	0	0	0	0	1	0	0	0	8184	652	23	1	1282	1	KIAA0100	17	26946933	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	22054138	26946933	54248277	129	32360											
NUFIP2	57532	broad.mit.edu	37	chr17	27613833	27613833	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggataagcgacttgatgaTtgggtctgagtttccccggt	14	7	1	3			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27613833T>C	ENST00000225388.4	-	2	1237	c.1179A>G	c.(1177-1179)caA>caG	p.Q393Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	393	Ser-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GACTTGATGATTGGGTCTGAG	0.433																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1177-1179)caA>caG		nuclear fragile X mental retardation protein interacting protein 2							141	142	141					17																	27613833		2203	4300	6503	SO:0001819	synonymous_variant	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613833T>C	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1179A>G	17.37:g.27613833T>C						NUFIP2_ENST00000579665.1_Intron	p.Q393Q	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1237	-			393			Ser-rich.		A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	c.1179A>G	CCDS32600.1																																																																																				0.433	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		47	596	0	0	0	0.139131	0	47	596					C	27613833	T	C	27613833	2	2	82	1	0	0	0	0	0	0	0	1	10791	1490	52	4		4	NUFIP2	17	27613833	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	666900	27613833	53581377	130	32361											
GIT1	28964	broad.mit.edu	37	chr17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-													gcgtagtgagctcgtccccaGgggggcccccaaagggcttc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)cctfs	p.P523fs	GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTCGTCCCCAGGGGGGCCCCC	0.652																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1567-1569)ctfs		G protein-coupled receptor kinase interacting ArfGAP 1							63	71	68					17																	27903281		2203	4300	6503	SO:0001589	frameshift_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903281delG	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1568delC	17.37:g.27903281delG	ENSP00000225394:p.Pro523fs					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs	p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1816	-			523					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Frame_Shift_Del	DEL	ENST00000225394.3	37	c.1568delC	CCDS11250.1																																																																																				0.652	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		7	809						7	809	---	---	---	---	-	27903281	G	-	27903281	7	5	82	1	0	1	0	1	0	0	0	0	6425	1000	35	0	745	0	GIT1	17	27903281	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	289448	27903281	53291929	131	32362											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					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)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	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.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		9	344						9	344	---	---	---	---	-	34071996	TCC	-	34071994	7	5	82	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-IB-8126-01A-11D-2396-08	6168713	34071994	47123216	132	32363											
CDK12	51755	broad.mit.edu	37	chr17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-													ctcaggagcaggccttcactGggggggcccaactcagtctt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:37687472delG	ENST00000447079.4	+	14	4409	c.4376delG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGCCTTCACTGGGGGGGCCCA	0.562			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"Mis, N, F"	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4375-4377)tgfs		cyclin-dependent kinase 12							42	49	47					17																	37687472		2198	4293	6491	SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687472delG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4376delG	17.37:g.37687472delG	ENSP00000398880:p.Trp1459fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	p.W1459fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4409	+			1459					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.4376delG	CCDS11337.1																																																																																				0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		7	562						7	562	---	---	---	---	-	37687472	G	-	37687472	7	5	82	1	0	1	0	1	0	0	0	0	3137	1357	47	0	4430	0	CDK12	17	37687472	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	3615478	37687472	43507738	133	32364											
CCDC103	388389	broad.mit.edu	37	chr17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-													ctaagcctgctgagccgggcAgagagagagagctgcaaggg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagagfs	p.E187fs	FAM187A_ENST00000412523.2_Intron|FAM187A_ENST00000331733.4_5'UTR|EFTUD2_ENST00000426333.2_5'Flank|AC015936.3_ENST00000441312.1_RNA|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs	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																																						ENST00000417826.2																			1	Substitution - Missense(1)	p.E187K(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7						c.(556-561)gcagfs		coiled-coil domain containing 103																																				SO:0001589	frameshift_variant	388389							g.chr17:42980014_42980015delAG	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					FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000412523.2_Intron	p.AE186fs	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN			4	653_654	+		Prostate(33;0.109)	186					A8K145|B8ZZU0	Frame_Shift_Del	DEL	ENST00000417826.2	37	c.558_559delAG	CCDS11490.1																																																																																				0.644	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		8	347						8	347	---	---	---	---	-	42980015	AG	-	42980014	7	5	82	1	0	1	0	1	0	0	0	0	2745	175	7	0	568	0	CCDC103	17	42980014	Frame_Shift_Del	DEL	AG	TCGA-IB-8126-01A-11D-2396-08	5292542	42980014	38215196	134	32365											
CSH2	1443	broad.mit.edu	37	chr17	61949520	61949520	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taccctctacagagcggcacTgcaccatgcgcaggaatgtc	10	14	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:61949520T>A	ENST00000392886.2	-	5	771	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L|CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	207						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						AGAGCGGCACTGCACCATGCG	0.592																																						ENST00000392886.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(619-621)cAg>cTg		chorionic somatomammotropin hormone 2							139	116	124					17																	61949520		2203	4300	6503	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949520T>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.620A>T	17.37:g.61949520T>A	ENSP00000376623:p.Gln207Leu					CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L	p.Q207L	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	771	-			207					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.620A>T	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	14.32	2.499020	0.44455	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;T	0.90676	-2.71;0.93	3.97	2.88	0.33553	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.587450	0.04964	N	0.462618	D	0.95529	0.8547	M	0.85630	2.765	0.32011	N	0.602031	D;D;P	0.64830	0.994;0.994;0.728	D;D;B	0.74674	0.984;0.984;0.42	D	0.84470	0.0599	10	0.87932	D	0	.	8.0549	0.30600	0.0:0.101:0.0:0.899	.	207;207;112	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	L	112;207	ENSP00000308396:Q112L;ENSP00000376623:Q207L	ENSP00000308396:Q112L	Q	-	2	0	CSH2	59303252	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	3.847000	0.55895	0.570000	0.29347	0.379000	0.24179	CAG		0.592	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		20	434	0	0	0	0.043863	0	20	434					A	61949520	T	A	61949520	3	1	82	1	0	0	0	0	1	0	0	0	3952	1580	55	5	37	5	CSH2	17	61949520	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	18969506	61949520	19245690	135	32366											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				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)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	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.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		8	523						8	523	---	---	---	---	-	62291440	TCC	-	62291438	7	5	82	1	0	1	0	1	0	0	0	0	15833	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-IB-8126-01A-11D-2396-08	341918	62291438	18903772	136	32367											
DDX5	1655	broad.mit.edu	37	chr17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-													actgtaaacaccattctgagTttttgccccaaaatctcttt							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)actfs	p.T530fs	MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530	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)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1588-1590)ctfs		DEAD (Asp-Glu-Ala-Asp) box helicase 5							135	141	139					17																	62496298		2203	4300	6503	SO:0001589	frameshift_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496298delT	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.1588delA	17.37:g.62496298delT	ENSP00000225792:p.Thr530fs					DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs	p.T530fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1989	-	Breast(5;2.15e-14)		530					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	ENST00000225792.5	37	c.1588delA	CCDS11659.1																																																																																				0.413	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		8	997						8	997	---	---	---	---	-	62496298	T	-	62496298	7	5	82	1	0	1	0	1	0	0	0	0	4378	1725	60	0	260	0	DDX5	17	62496298	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	204860	62496298	18698912	137	32368											
CARD14	79092	broad.mit.edu	37	chr17	78172300	78172301	+	Frame_Shift_Ins	INS	-	-	G													agcagatcagcgtcatcggcINSgggaacctcacgggcatctt					rs372197132|rs200610907		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78172300_78172301insG	ENST00000573882.1	+	15	2297_2298	c.1761_1762insG	c.(1762-1764)gggfs	p.G588fs	RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000570421.1_Frame_Shift_Ins_p.G588fs|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.G351fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.G588fs			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	588	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCGTCATCGGCGGGAACCTCAC	0.678																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1759-1764)ggggaafs		caspase recruitment domain family, member 14																																				SO:0001589	frameshift_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78172300_78172301insG	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1764dupG	17.37:g.78172303_78172303dupG	ENSP00000458715:p.Gly588fs					CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.E351fs|CARD14_ENST00000570421.1_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.E588fs	p.E588fs			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		15	2297_2298	+	all_neural(118;0.0952)		588			PDZ.		B8QQJ3|Q9BVB5	Frame_Shift_Ins	INS	ENST00000573882.1	37	c.1761_1762insG	CCDS11768.1																																																																																				0.678	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			13	646						13	646	---	---	---	---	G	78172301	-	G	78172300	7	5	82	1	0	1	1	0	0	0	0	0	2653	755	27	0	1807	0	CARD14	17	78172300	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	15676002	78172300	3022910	138	32369											
RNF213	57674	broad.mit.edu	37	chr17	78363984	78363984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccgaggagcgcttccGccctcagtggaggtatggat	13	12	1	0	rs528073196		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78363984G>A	ENST00000582970.1	+	67	15601	c.15458G>A	c.(15457-15459)cGc>cAc	p.R5153H	CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5153					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)			GAGCGCTTCCGCCCTCAGTGG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17896	0.001		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				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						c.(15457-15459)cGc>cAc		ring finger protein 213							57	66	63					17																	78363984		2202	4299	6501	SO:0001583	missense	57674							g.chr17:78363984G>A	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.15458G>A	17.37:g.78363984G>A	ENSP00000464087:p.Arg5153His					RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|CTD-2047H16.4_ENST00000572151.1_RNA	p.R5153H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		67	15601	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.15458G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985660	0.18889	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T;T	0.23147	1.95;1.92	5.67	2.26	0.28386	.	0.954721	0.08773	N	0.896005	T	0.17704	0.0425	L	0.43152	1.355	0.20926	N	0.999826	D;P	0.53619	0.961;0.713	B;B	0.35240	0.198;0.139	T	0.16305	-1.0407	10	0.44086	T	0.13	.	6.2579	0.20884	0.6156:0.1201:0.2643:0.0	.	5153;3226	D6RI12;Q63HN8	.;RN213_HUMAN	H	5153;5202;3226;503	ENSP00000425956:R5153H;ENSP00000338218:R3226H	ENSP00000338218:R3226H	R	+	2	0	RNF213	75978579	0.010000	0.17322	0.026000	0.17262	0.011000	0.07611	0.138000	0.16016	0.092000	0.17331	-0.294000	0.09567	CGC		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		27	650	0	0	0	0.099896	0	27	650					A	78363984	G	A	78363984	3	1	82	1	0	0	0	0	1	0	0	0	13527	1087	38	1	16039	1	RNF213	17	78363984	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	191684	78363984	2831226	139	32370											
CYP4F3	4051	broad.mit.edu	37	chr19	15769322	15769322	+	Frame_Shift_Del	DEL	T	T	-													cattatctgcctcatcagtgTttttggaacccatcacaacc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:15769322delT	ENST00000221307.8	+	11	1318	c.1271delT	c.(1270-1272)gttfs	p.V424fs	CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.2_Frame_Shift_Del_p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	424					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCATCAGTGTTTTTGGAACC	0.622																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1270-1272)gtfs		cytochrome P450, family 4, subfamily F, polypeptide 3							139	148	145					19																	15769322		2203	4300	6503	SO:0001589	frameshift_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769322delT	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1271delT	19.37:g.15769322delT	ENSP00000221307:p.Val424fs					CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs	p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			11	1319	+			424					B7Z8Z3|O60634|Q5U740	Frame_Shift_Del	DEL	ENST00000221307.8	37	c.1271delT	CCDS12332.1																																																																																				0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		9	1511						9	1511	---	---	---	---	-	15769322	T	-	15769322	7	5	82	1	0	1	0	1	0	0	0	0	4201	1725	60	0	1309	0	CYP4F3	19	15769322	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		15769322	43359661	140	32371											
MYO9B	4650	broad.mit.edu	37	chr19	17311567	17311568	+	Frame_Shift_Ins	INS	-	-	G													cacagtgtcagagaagtggcINSgggaatcggtgttccgccag							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:17311567_17311568insG	ENST00000594824.1	+	26	4639_4640	c.4492_4493insG	c.(4492-4494)cggfs	p.R1498fs	MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.R1498fs|MYO9B_ENST00000595618.1_Frame_Shift_Ins_p.R1498fs			Q13459	MYO9B_HUMAN	myosin IXB	1498	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGAGAAGTGGCGGGAATCGGTG	0.559																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4492-4494)ggafs		myosin IXB			,	11,4067		0,11,2028					,	3.7	1			148	21,8099		0,21,4039	no	frameshift,frameshift	MYO9B	NM_004145.3,NM_001130065.1	,	0,32,6067	A1A1,A1R,RR		0.2586,0.2697,0.2623	,	,		32,12166				SO:0001589	frameshift_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311567_17311568insG		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.4495dupG	19.37:g.17311570_17311570dupG	ENSP00000471367:p.Arg1498fs					MYO9B_ENST00000594824.1_Frame_Shift_Ins_p.G1498fs|MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.G1498fs	p.G1498fs	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			26	4644_4645	+			1498			Tail.		O75314|Q9NUJ2|Q9UHN0	Frame_Shift_Ins	INS	ENST00000594824.1	37	c.4492_4493insG																																																																																					0.559	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			13	779						13	779	---	---	---	---	G	17311568	-	G	17311567	7	5	82	1	0	1	1	0	0	0	0	0	10126	759	27	0	4590	0	MYO9B	19	17311567	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	1542245	17311567	41817416	141	32372											
ARHGAP33	115703	broad.mit.edu	37	chr19	36278842	36278842	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tacggcatgcttggccaatcAcccccactccacaggtcccc	7	19	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					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						TTGGCCAATCACCCCCACTCC	0.667																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3373-3375)tcA>tcC		Rho GTPase activating protein 33							20	24	22					19																	36278842		2203	4298	6501	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278842A>C	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.3375A>C	19.37:g.36278842A>C						ARHGAP33_ENST00000378944.5_Silent_p.S961S|ARHGAP33_ENST00000314737.5_Silent_p.S964S	p.S1125S			O14559	RHG33_HUMAN			21	3519	+			1125					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3375A>C																																																																																					0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		22	104	0	0	0	0.108266	0	22	104					C	36278842	A	C	36278842	2	2	82	1	0	0	0	0	0	0	0	1	882	146	6	4		4	ARHGAP33	19	36278842	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	18967275	36278842	22850141	142	32373											
ZFP36	7538	broad.mit.edu	37	chr19	39899271	39899271	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgaggcgggagtttttGcaccaccccagcccgtggca	12	14	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:39899271G>T	ENST00000248673.3	+	2	971	c.913G>T	c.(913-915)Gca>Tca	p.A305S	ZFP36_ENST00000597629.1_Missense_Mutation_p.A311S|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	305					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGAGTTTTTGCACCACCCCA	0.617																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(931-933)Gca>Tca		ZFP36 ring finger protein							25	27	26					19																	39899271		2202	4294	6496	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39899271G>T	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.913G>T	19.37:g.39899271G>T	ENSP00000248673:p.Ala305Ser					ZFP36_ENST00000248673.3_Missense_Mutation_p.A305S	p.A311S			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	1005	+	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)		305					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.931G>T		.	.	.	.	.	.	.	.	.	.	G	0.008	-1.869606	0.00547	.	.	ENSG00000128016	ENST00000248673	T	0.15017	2.46	4.42	3.39	0.38822	.	0.727020	0.11822	U	0.526130	T	0.07683	0.0193	N	0.14661	0.345	0.09310	N	0.999994	B	0.09022	0.002	B	0.08055	0.003	T	0.40831	-0.9542	10	0.05959	T	0.93	-0.4342	5.3114	0.15833	0.1044:0.0:0.6949:0.2007	.	305	P26651	TTP_HUMAN	S	305	ENSP00000248673:A305S	ENSP00000248673:A305S	A	+	1	0	ZFP36	44591111	0.908000	0.30866	0.632000	0.29296	0.208000	0.24298	1.586000	0.36611	1.106000	0.41623	0.289000	0.19496	GCA		0.617	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				28	180	1	0	2.89935e-36	0.139131	3.20525e-36	28	180					T	39899271	G	T	39899271	3	4	82	1	0	0	0	0	1	0	0	0	17698	1319	46	3	919	3	ZFP36	19	39899271	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	3620429	39899271	19229712	143	32374											
ZNF780A	284323	broad.mit.edu	37	chr19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaTaccagcatgaatactctgat	5	8	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.I415V(1)|p.I380V(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1138-1140)Ata>Gta		zinc finger protein 780A							178	182	180					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val					ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000414720.2_Intron	p.I380V			O75290	Z780A_HUMAN			6	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1138A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		7	1104	0	0	0	0.021553	0	7	1104					C	40581109	T	C	40581109	3	2	82	1	0	0	0	0	1	0	0	0	18205	1406	49	4	816	4	ZNF780A	19	40581109	Missense_Mutation	SNP	T	TCGA-IB-8126-01A-11D-2396-08	681838	40581109	18547874	144	32375											
ERF	2077	broad.mit.edu	37	chr19	42753020	42753021	+	Frame_Shift_Ins	INS	-	-	C													cgggggcggtggggctagcgINScccctgccccctcagccagc					rs139842507	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:42753020_42753021insC	ENST00000222329.4	-	4	1400_1401	c.1243_1244insG	c.(1243-1245)gcgfs	p.A415fs	ERF_ENST00000440177.2_Frame_Shift_Ins_p.A340fs|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	415					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TGGGGCTAGCGCCCCTGCCCCC	0.688																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1243-1245)gctfs		Ets2 repressor factor																																				SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753020_42753021insC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1244dupG	19.37:g.42753024_42753024dupC	ENSP00000222329:p.Ala415fs					ERF_ENST00000440177.2_Frame_Shift_Ins_p.A340fs|AC006486.9_ENST00000594664.1_Intron	p.A415fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1400_1401	-		Prostate(69;0.00682)	415					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Ins	INS	ENST00000222329.4	37	c.1243_1244insG	CCDS12600.1																																																																																				0.688	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		9	502						9	502	---	---	---	---	C	42753021	-	C	42753020	7	5	82	1	0	1	1	0	0	0	0	0	5239	1087	38	0	406	0	ERF	19	42753020	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	2171911	42753020	16375963	145	32376											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		9	138						9	138	---	---	---	---	-	45381751	GAG	-	45381749	6	5	82	0	1	1	0	1	0	0	0	0	12890	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-IB-8126-01A-11D-2396-08	2628729	45381749	13747234	146	32377											
CGB	1082	broad.mit.edu	37	chr19	49526203	49526203	+	Frame_Shift_Del	DEL	G	G	-													cgggatgggcttggaaggctGgggggaggggcctttgagga					rs17852109		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:49526203delG	ENST00000357383.4	-	3	799	c.438delC	c.(436-438)cccfs	p.P146fs		NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	146					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)	1		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)		TTGGAAGGCTGGGGGGAGGGG	0.647																																						ENST00000357383.4																			0				large_intestine(1)	1						c.(436-438)ccfs		chorionic gonadotropin, beta polypeptide	Choriogonadotropin alfa(DB00097)						21	20	20					19																	49526203		2145	4225	6370	SO:0001589	frameshift_variant	1082				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49526203delG	J00117	CCDS12749.1	19q13.3	2013-02-25				ENSG00000104827		"Endogenous ligands"	1886	protein-coding gene	gene with protein product		118860				6774259, 6194155	Standard	NM_000737		Approved	CGB3	uc002plv.2	P01233		ENST00000357383.4:c.438delC	19.37:g.49526203delG	ENSP00000349954:p.Pro146fs						p.P146fs	NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	799	-		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)	146					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Frame_Shift_Del	DEL	ENST00000357383.4	37	c.438delC	CCDS12749.1																																																																																				0.647	CGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452164.2	NM_000737		10	773						10	773	---	---	---	---	-	49526203	G	-	49526203	7	5	82	1	0	1	0	1	0	0	0	0	3305	1335	47	0	63	0	CGB	19	49526203	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	4144454	49526203	9602780	147	32378											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	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.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		6	758	0	0	0	0.02938	0	6	758					A	53644386	T	A	53644386	2	1	82	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-IB-8126-01A-11D-2396-08	4118183	53644386	5484597	148	32379											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	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)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	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.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		9	382	0	0	0	0.058154	0	9	382					A	53855284	G	A	53855284	2	1	82	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	210898	53855284	5273699	149	32380											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				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)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	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.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			9	481						9	481	---	---	---	---	-	54675749	TCC	-	54675747	7	5	82	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-IB-8126-01A-11D-2396-08	820463	54675747	4453236	150	32381											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-													catagtcttggaggaggaacTttttttggtctctgctgtct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					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						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141	152	148					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	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.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	963						7	963	---	---	---	---	-	3893120	T	-	3893120	7	5	82	1	0	1	0	1	0	0	0	0	11459	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08		3893120	59132400	151	32382											
BCL2L1	598	broad.mit.edu	37	chr20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-													acagtgccccgccgaaggagAaaaaggccacaatgcgaccc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					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)			GCCGAAGGAGAAAAAGGCCAC	0.542																																					Colon(51;693 1004 1401 20431 21026)	ENST00000307677.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(430-432)tcfs		BCL2-like 1							199	198	199					20																	30309591		2203	4300	6503	SO:0001589	frameshift_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309591delA	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.431delT	20.37:g.30309591delA	ENSP00000302564:p.Phe144fs					BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs	p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	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)		2	841	-	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)		144					E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	c.431delT	CCDS13189.1																																																																																				0.542	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		13	1851						13	1851	---	---	---	---	-	30309591	A	-	30309591	7	5	82	1	0	1	0	1	0	0	0	0	1368	246	9	0	278	0	BCL2L1	20	30309591	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	26416471	30309591	32715929	152	32383											
RPRD1B	58490	broad.mit.edu	37	chr20	36694636	36694636	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaatcagaaagatgttttgtCggagaaggagaaaaaactag	12	3	1	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:36694636C>T	ENST00000373433.4	+	6	1211	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	270					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GATGTTTTGTCGGAGAAGGAG	0.502																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(808-810)tCg>tTg		regulation of nuclear pre-mRNA domain containing 1B							75	86	82					20																	36694636		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36694636C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"chromosome 20 open reading frame 77"	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.809C>T	20.37:g.36694636C>T	ENSP00000362532:p.Ser270Leu						p.S270L	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			6	1211	+			270					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.809C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538823	0.45176	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.313199	0.35207	N	0.003367	T	0.45377	0.1339	L	0.27053	0.805	0.41599	D	0.988848	B	0.13594	0.008	B	0.10450	0.005	T	0.30208	-0.9986	9	0.39692	T	0.17	-5.9908	14.2206	0.65823	0.0:0.851:0.149:0.0	.	270	Q9NQG5	RPR1B_HUMAN	L	270;152	.	ENSP00000362532:S270L	S	+	2	0	RPRD1B	36128050	0.996000	0.38824	1.000000	0.80357	0.966000	0.64601	0.953000	0.29162	2.941000	0.99782	0.655000	0.94253	TCG		0.502	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		12	480	0	0	0	0.105934	0	12	480					T	36694636	C	T	36694636	3	4	82	1	0	0	0	0	1	0	0	0	13666	893	31	1	831	1	RPRD1B	20	36694636	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	6385045	36694636	26330884	153	32384											
SNX21	90203	broad.mit.edu	37	chr20	44469465	44469465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagagaccattgcccgccGtagccgggcctttgagcagt	13	13	0	2			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:44469465G>A	ENST00000491381.1	+	4	703	c.635G>A	c.(634-636)cGt>cAt	p.R212H	SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372542.1_Missense_Mutation_p.R203H|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000462307.1_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	212	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ATTGCCCGCCGTAGCCGGGCC	0.642																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(607-609)cGt>cAt		sorting nexin family member 21							40	48	45					20																	44469465		2202	4296	6498	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469465G>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.635G>A	20.37:g.44469465G>A	ENSP00000418593:p.Arg212His					SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R212H|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000342644.5_Intron	p.R203H			Q969T3	SNX21_HUMAN			3	920	+		Myeloproliferative disorder(115;0.0122)	212			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.608G>A	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829655	0.91036	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.61392	0.11;0.11	4.32	4.32	0.51571	Phox homologous domain (5);	0.057521	0.64402	D	0.000002	T	0.79557	0.4466	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84538	0.0637	10	0.87932	D	0	-11.7488	15.9699	0.80004	0.0:0.0:1.0:0.0	.	203;212	Q5JZH3;Q969T3	.;SNX21_HUMAN	H	212;203	ENSP00000418593:R212H;ENSP00000361620:R203H	ENSP00000361620:R203H	R	+	2	0	SNX21	43902872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.801000	0.91905	2.249000	0.74217	0.462000	0.41574	CGT		0.642	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		5	366	0	0	0	0.014758	0	5	366					A	44469465	G	A	44469465	3	1	82	1	0	0	0	0	1	0	0	0	14943	1145	40	1	664	1	SNX21	20	44469465	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	7774829	44469465	18556055	154	32385											
ZMYND8	23613	broad.mit.edu	37	chr20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-													ctgggtttgtaggcttgggcTtttttttaacagcagatggc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1903-1905)agfs		zinc finger, MYND-type containing 8							203	199	200					20																	45875072		2203	4300	6503	SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875072delT	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1904delA	20.37:g.45875072delT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs	p.K635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157	-			635					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Frame_Shift_Del	DEL	ENST00000311275.7	37	c.1904delA																																																																																					0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		8	918						8	918	---	---	---	---	-	45875072	T	-	45875072	7	5	82	1	0	1	0	1	0	0	0	0	17764	1609	56	0	1642	0	ZMYND8	20	45875072	Frame_Shift_Del	DEL	T	TCGA-IB-8126-01A-11D-2396-08	1405607	45875072	17150448	155	32386											
ZNFX1	57169	broad.mit.edu	37	chr20	47887081	47887081	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttgtagactatgcctgatGatgaacacatgggggtgata	12	7	0	5			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:47887081G>A	ENST00000396105.1	-	3	1514	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S423L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S423L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	423							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)			TATGCCTGATGATGAACACAT	0.448																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1267-1269)tCa>tTa		zinc finger, NFX1-type containing 1							179	174	176					20																	47887081		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887081G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1268C>T	20.37:g.47887081G>A	ENSP00000379412:p.Ser423Leu					ZNFX1_ENST00000371754.4_Missense_Mutation_p.S423L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S423L	p.S423L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1514	-			423					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1268C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323649	0.24080	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.86769	-1.87;-2.17;-2.17;-0.79;-1.52	5.85	5.85	0.93711	.	0.517391	0.21337	N	0.076200	D	0.84719	0.5534	L	0.52759	1.655	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.70502	-0.4854	10	0.25751	T	0.34	-3.7111	18.7272	0.91718	0.0:0.0:1.0:0.0	.	423	Q9P2E3	ZNFX1_HUMAN	L	423;423;423;423;423;227	ENSP00000360819:S423L;ENSP00000360817:S423L;ENSP00000379412:S423L;ENSP00000360809:S423L;ENSP00000413800:S227L	ENSP00000360809:S423L	S	-	2	0	ZNFX1	47320488	0.893000	0.30496	0.982000	0.44146	0.992000	0.81027	4.477000	0.60223	2.773000	0.95371	0.655000	0.94253	TCA		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		7	931	0	0	0	0.038147	0	7	931					A	47887081	G	A	47887081	3	1	82	1	0	0	0	0	1	0	0	0	18258	1294	45	2	4536	2	ZNFX1	20	47887081	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08	2012009	47887081	15138439	156	32387											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					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)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	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.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	103						8	103	---	---	---	---	G	61512381	-	G	61512380	7	5	82	1	0	1	1	0	0	0	0	0	4538	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	13625299	61512380	1513140	157	32388											
TIAM1	7074	broad.mit.edu	37	chr21	32493078	32493078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggctgcttgcggagaCggcatcagaatcaatggtaa	13	10	2	2	rs200252911		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:32493078C>T	ENST00000286827.3	-	29	4855	c.4384G>A	c.(4384-4386)Gtc>Atc	p.V1462I	TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1462					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						CTTGCGGAGACGGCATCAGAA	0.562																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4384-4386)Gtc>Atc		T-cell lymphoma invasion and metastasis 1		C	ILE/VAL	0,4406		0,0,2203	43	46	45		4384	2.2	0.7	21		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1462/1592	32493078	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493078C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4384G>A	21.37:g.32493078C>T	ENSP00000286827:p.Val1462Ile					TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I	p.V1462I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	4855	-			1462					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4384G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010725	0.19277	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.39056	1.1;1.11	5.14	2.2	0.27929	.	0.290368	0.32147	N	0.006505	T	0.20981	0.0505	N	0.13235	0.315	0.27602	N	0.948927	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.17471	-1.0368	10	0.20046	T	0.44	.	6.7271	0.23363	0.0:0.5879:0.0:0.4121	.	1402;1462	F5GZ53;Q13009	.;TIAM1_HUMAN	I	1462;1402	ENSP00000286827:V1462I;ENSP00000441570:V1402I	ENSP00000286827:V1462I	V	-	1	0	TIAM1	31414949	0.308000	0.24509	0.735000	0.30896	0.916000	0.54674	0.220000	0.17660	0.129000	0.18514	-0.140000	0.14226	GTC		0.562	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		14	392	0	0	0	0.132662	0	14	392					T	32493078	C	T	32493078	3	4	82	1	0	0	0	0	1	0	0	0	15942	536	19	1	395	1	TIAM1	21	32493078	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		32493078	15636817	158	32389											
POTEH	23784	broad.mit.edu	37	chr22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgccgctccccctgcaCcaggggaagcagtggcagca	12	16	1	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.W71C(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(211-213)tgG>tgC		POTE ankyrin domain family, member H							110	126	120					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	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.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys						p.W71C	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	264	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	1856	0	0	0	0.014758	0	8	1856					G	16287673	C	G	16287673	3	3	82	1	0	0	0	0	1	0	0	0	12309	508	18	5	1464	5	POTEH	22	16287673	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08		16287673	35016893	159	32390											
MICAL3	57553	broad.mit.edu	37	chr22	18301214	18301214	+	Frame_Shift_Del	DEL	G	G	-													ctctctgtcggacggggaccGgggggttggcagggacaacg					rs143411730	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:18301214delG	ENST00000441493.2	-	26	4565	c.4213delC	c.(4213-4215)cggfs	p.R1405fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1405	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)		GACGGGGACCGGGGGGTTGGC	0.667																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4213-4215)ggfs		microtubule associated monooxygenase, calponin and LIM domain containing 3							71	82	78					22																	18301214		1927	4120	6047	SO:0001589	frameshift_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301214delG	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.4213delC	22.37:g.18301214delG	ENSP00000416015:p.Arg1405fs						p.R1405fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4565	-		all_epithelial(15;0.198)	1405			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	37	c.4213delC	CCDS46659.1																																																																																				0.667	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	850						8	850	---	---	---	---	-	18301214	G	-	18301214	7	5	82	1	0	1	0	1	0	0	0	0	9612	1115	39	0	1823	0	MICAL3	22	18301214	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	2013541	18301214	33003352	160	32391											
MN1	4330	broad.mit.edu	37	chr22	28194183	28194183	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctgcggcgggtaggcAcccccgccaccgccgccacc	13	20	1	0	rs147022536|rs370415254	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:28194183A>C	ENST00000302326.4	-	1	3303	c.2349T>G	c.(2347-2349)ggT>ggG	p.G783G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	783					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						GCGGGTAGGCACCCCCGCCAC	0.726			T	ETV6	"AML, meningioma"								A|||	51	0.0101837	0.0144	0.0101	5008	,	,		9502	0.006		0.008	False		,,,				2504	0.0112					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2347-2349)ggT>ggG		meningioma (disrupted in balanced translocation) 1							4	5	5					22																	28194183		1653	3723	5376	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194183A>C	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.2349T>G	22.37:g.28194183A>C							p.G783G	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3303	-			783					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2349T>G	CCDS42998.1																																																																																				0.726	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		17	40	0	0	0	0.183431	0	17	40					C	28194183	A	C	28194183	2	2	82	1	0	0	0	0	0	0	0	1	9714	146	6	4		4	MN1	22	28194183	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	9892969	28194183	23110383	161	32392											
EWSR1	2130	broad.mit.edu	37	chr22	29695794	29695794	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctggacctttgatggaacaGatgggaggaagaagaggagg	17	5	0	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:29695794G>A	ENST00000397938.2	+	16	2203	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	EWSR1_ENST00000332050.6_Silent_p.Q555Q|EWSR1_ENST00000406548.1_Silent_p.Q627Q|EWSR1_ENST00000331029.7_Silent_p.Q590Q|EWSR1_ENST00000414183.2_Silent_p.Q633Q|EWSR1_ENST00000332035.6_Silent_p.Q572Q	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	628	Arg/Gly/Pro-rich.				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						TGATGGAACAGATGGGAGGAA	0.602			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"L, M"	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"		"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1882-1884)caG>caA		EWS RNA-binding protein 1							28	31	30					22																	29695794		2203	4300	6503	SO:0001819	synonymous_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695794G>A		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.1884G>A	22.37:g.29695794G>A						EWSR1_ENST00000332035.6_Silent_p.Q572Q|EWSR1_ENST00000332050.6_Silent_p.Q555Q|EWSR1_ENST00000331029.7_Silent_p.Q590Q|EWSR1_ENST00000406548.1_Silent_p.Q627Q|EWSR1_ENST00000414183.2_Silent_p.Q633Q	p.Q628Q	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			16	2203	+			628			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	c.1884G>A	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	8.184	0.794395	0.16327	.	.	ENSG00000182944	ENST00000360091	.	.	.	5.18	1.94	0.25998	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54186	-0.8331	4	.	.	.	.	10.3321	0.43829	0.2164:0.0:0.7836:0.0	.	.	.	.	N	280	.	.	D	+	1	0	EWSR1	28025794	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.597000	0.24059	0.583000	0.29574	-0.251000	0.11542	GAT		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		5	109	0	0	0	0.014758	0	5	109					A	29695794	G	A	29695794	2	1	82	1	0	0	0	0	0	0	0	1	5314	933	33	2		2	EWSR1	22	29695794	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	1501611	29695794	21608772	162	32393											
DDX17	10521	broad.mit.edu	37	chr22	38897210	38897211	+	Frame_Shift_Ins	INS	-	-	T													ggagctcactcaaatcccacINSttttttttacgcaaacgctc							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:38897210_38897211insT	ENST00000396821.3	-	2	461_462	c.362_363insA	c.(361-363)aagfs	p.K121fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.K42fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	121					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)					TCAAATCCCACTTTTTTTTACG	0.421																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(361-363)atgfs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38897210_38897211insT	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.363dupA	22.37:g.38897218_38897218dupT	ENSP00000380033:p.Lys121fs					DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.M42fs	p.M121fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			2	461_462	-	Melanoma(58;0.0286)		42					B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.362_363insA	CCDS46706.1																																																																																				0.421	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		8	231						8	231	---	---	---	---	T	38897211	-	T	38897210	7	5	82	1	0	1	1	0	0	0	0	0	4355	564	20	0	1880	0	DDX17	22	38897210	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	9201416	38897210	12407356	163	32394											
P2RY8	286530	broad.mit.edu	37	chrX	1584602	1584602	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgggtccagacagttgttgaGgcagctgagacacagcgtga	15	9	0	4			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:1584602G>T	ENST00000381297.4	-	2	1060	c.850C>A	c.(850-852)Ctc>Atc	p.L284I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGTTGAGGCAGCTGAGA	0.587			T	CRLF2	"B-ALL, Downs associated ALL"																																	ENST00000381297.4				Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	T	"purinergic receptor P2Y, G-protein coupled, 8"			L	CRLF2		"B-ALL, Downs associated ALL"		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(850-852)Ctc>Atc		purinergic receptor P2Y, G-protein coupled, 8							119	117	118					X																	1584602		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584602G>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.850C>A	X.37:g.1584602G>T	ENSP00000370697:p.Leu284Ile						p.L284I	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	1060	-		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)	284						Missense_Mutation	SNP	ENST00000381297.4	37	c.850C>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.724334	0.30593	.	.	ENSG00000182162	ENST00000381297	T	0.20598	2.06	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.191682	0.34110	U	0.004251	T	0.18551	0.0445	L	0.52759	1.655	0.09310	N	1	B	0.33494	0.414	B	0.38327	0.271	T	0.11275	-1.0594	10	0.23891	T	0.37	.	6.3011	0.21113	0.3491:0.0:0.6509:0.0	.	284	Q86VZ1	P2RY8_HUMAN	I	284	ENSP00000370697:L284I	ENSP00000370697:L284I	L	-	1	0	P2RY8	1544602	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	0.594000	0.24014	1.007000	0.39238	0.279000	0.19357	CTC		0.587	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		21	550	1	0	1.64293e-13	0.083992	1.80798e-13	21	550					T	1584602	G	T	1584602	3	4	82	1	0	0	0	0	1	0	0	0	11397	1000	35	3	233	3	P2RY8	23	1584602	Missense_Mutation	SNP	G	TCGA-IB-8126-01A-11D-2396-08		1584602	153685958	164	32395											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga					rs312262846|rs312262847|rs312262848		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					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						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48	47	47			4.2	1	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	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.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		12	383						12	383	---	---	---	---	-	13764946	A	-	13764946	7	5	82	1	0	1	0	1	0	0	0	0	10880	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	12180344	13764946	141505614	165	32396											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	875	0	0	0	0.069234	0	8	875					G	37028425	A	G	37028425	3	3	82	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IB-8126-01A-11D-2396-08	23263479	37028425	118242135	166	32397											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		9	220						9	220	---	---	---	---	-	47030563	GGA	-	47030561	7	5	82	1	0	1	0	1	0	0	0	0	13161	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-IB-8126-01A-11D-2396-08	10002136	47030561	108239999	167	32398											
AKAP4	8852	broad.mit.edu	37	chrX	49957303	49957303	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgttcgcttgcttcatcccActggtacagtcaagttcttg	8	13	3	0			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:49957303A>G	ENST00000376056.2	-	5	2184	c.2034T>C	c.(2032-2034)agT>agC	p.S678S	AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000358526.2_Silent_p.S687S|AKAP4_ENST00000376064.3_Silent_p.S678S|AKAP4_ENST00000481402.1_5'UTR					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)					GCTTCATCCCACTGGTACAGT	0.478																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2032-2034)agT>agC		A kinase (PRKA) anchor protein 4							126	92	104					X																	49957303		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957303A>G	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.2034T>C	X.37:g.49957303A>G						AKAP4_ENST00000358526.2_Silent_p.S687S|AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.S678S	p.S678S			Q5JQC9	AKAP4_HUMAN			5	2184	-	Ovarian(276;0.236)		687						Silent	SNP	ENST00000376056.2	37	c.2034T>C	CCDS14330.1																																																																																				0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		9	281	0	0	0	0.058154	0	9	281					G	49957303	A	G	49957303	2	3	82	1	0	0	0	0	0	0	0	1	453	156	6	4		4	AKAP4	23	49957303	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	2926742	49957303	105313257	168	32399											
CCNB3	85417	broad.mit.edu	37	chrX	50054016	50054016	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccttcaaggagccattAgccttacaagagagtcccac	8	12	1	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					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)		p.L949L(5)		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)					AGGAGCCATTAGCCTTACAAG	0.483																																						ENST00000376042.1																			5	Substitution - coding silent(5)	p.L949L(5)	prostate(3)|lung(2)	breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2845-2847)ttA>ttG		cyclin B3							87	82	84					X																	50054016		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054016A>G	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.2847A>G	X.37:g.50054016A>G						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L	p.L949L			Q8WWL7	CCNB3_HUMAN			6	3145	+	Ovarian(276;0.236)		949					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2847A>G	CCDS14331.1																																																																																				0.483	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	604	0	0	0	0.021553	0	6	604					G	50054016	A	G	50054016	2	3	82	1	0	0	0	0	0	0	0	1	2923	417	15	4		4	CCNB3	23	50054016	Silent	SNP	A	TCGA-IB-8126-01A-11D-2396-08	96713	50054016	105216544	169	32400											
AR	367	broad.mit.edu	37	chrX	66765159	66765167	+	In_Frame_Del	DEL	GCAGCAGCA	GCAGCAGCA	-													ggcgccagtttgctgctgctGcagcagcagcagcagcagca					rs137852575|rs200185441		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:66765159_66765167delGCAGCAGCA	ENST00000374690.3	+	1	695_703	c.171_179delGCAGCAGCA	c.(169-180)ctgcagcagcag>ctg	p.QQQ76del	AR_ENST00000396044.3_In_Frame_Del_p.QQQ76del|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.QQQ76del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	76	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcagcagcag	0.665									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CI065812|CI994028|CM033749|CM054646|CM930034	AR	I|M	rs137852575|rs5902610	c.(169-180)ctg>ct		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)																																			SO:0001651	inframe_deletion	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765159_66765167delGCAGCAGCA	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.171_179delGCAGCAGCA	X.37:g.66765168_66765176delGCAGCAGCA	ENSP00000363822:p.Gln76_Gln78del					AR_ENST00000396044.3_In_Frame_Del_p.LQQQ57del|AR_ENST00000504326.1_In_Frame_Del_p.LQQQ57del|AR_ENST00000513847.1_3'UTR	p.LQQQ57del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	695_703	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Modulating.|Poly-Leu.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.171_179delGCAGCAGCA	CCDS14387.1																																																																																				0.665	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		16	178						16	178	---	---	---	---	-	66765167	GCAGCAGCA	-	66765159	7	5	82	1	0	1	0	1	0	0	0	0	836	1306	46	0	173	0	AR	23	66765159	In_Frame_Del	DEL	GCAGCAGCA	TCGA-IB-8126-01A-11D-2396-08	16711143	66765159	88505401	170	32401											
EDA	1896	broad.mit.edu	37	chrX	68836236	68836237	+	Frame_Shift_Ins	INS	-	-	G													gccagggctgcgggtgtggcINSggggcccctgcccgggcggg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:68836236_68836237insG	ENST00000374552.4	+	1	326_327	c.84_85insG	c.(85-87)gggfs	p.G29fs	EDA_ENST00000338901.3_Frame_Shift_Ins_p.G29fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.G29fs|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Frame_Shift_Ins_p.G29fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.G29fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.G29fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	29					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCGGGTGTGGCGGGGCCCCTGC	0.708																																						ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(82-87)gggggcfs		ectodysplasin A																																				SO:0001589	frameshift_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:68836236_68836237insG	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"Tumor necrosis factor (ligand) superfamily"	3157	protein-coding gene	gene with protein product		300451	"ectodermal dysplasia 1, anhidrotic", "oligodontia 1"	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.88dupG	X.37:g.68836240_68836240dupG	ENSP00000363680:p.Gly29fs					EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR	p.GG28fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			1	326_327	+			28					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Frame_Shift_Ins	INS	ENST00000374552.4	37	c.84_85insG	CCDS14394.1																																																																																				0.708	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		7	239						7	239	---	---	---	---	G	68836237	-	G	68836236	7	5	82	1	0	1	1	0	0	0	0	0	4919	755	27	0	86	0	EDA	23	68836236	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	2071077	68836236	86434324	171	32402											
SLC7A3	84889	broad.mit.edu	37	chrX	70146816	70146816	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtccccatagggtcaacttCtctgattcagtagttattgc	8	10	3	1			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:70146816C>A	ENST00000374299.3	-	9	1506	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	454					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGTCAACTTCTCTGATTCAG	0.468																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1360-1362)gaG>gaT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						124	116	119					X																	70146816		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70146816C>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1362G>T	X.37:g.70146816C>A	ENSP00000363417:p.Glu454Asp					SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D	p.E454D			Q8WY07	CTR3_HUMAN			9	1506	-	Renal(35;0.156)		454					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1362G>T	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114898	0.20795	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88664	-2.41;-2.41	5.31	2.39	0.29439	.	0.537794	0.13865	U	0.357372	D	0.86301	0.5900	L	0.46157	1.445	0.09310	N	0.999999	B	0.23650	0.089	B	0.35727	0.209	T	0.76189	-0.3050	10	0.44086	T	0.13	.	9.0769	0.36527	0.0:0.7342:0.0:0.2658	.	454	Q8WY07	CTR3_HUMAN	D	454	ENSP00000363417:E454D;ENSP00000298085:E454D	ENSP00000298085:E454D	E	-	3	2	SLC7A3	70063541	0.579000	0.26725	0.881000	0.34555	0.226000	0.24999	0.230000	0.17852	0.158000	0.19367	0.529000	0.55759	GAG		0.468	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		17	313	1	0	3.32936e-07	0.175082	3.56611e-07	17	313					A	70146816	C	A	70146816	3	1	82	1	0	0	0	0	1	0	0	0	14748	912	32	3	513	3	SLC7A3	23	70146816	Missense_Mutation	SNP	C	TCGA-IB-8126-01A-11D-2396-08	1310580	70146816	85123744	172	32403											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	486	0	0	0	0.02938	0	7	486					C	73811938	G	C	73811938	2	2	82	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-IB-8126-01A-11D-2396-08	3665122	73811938	81458622	173	32404											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		9	396						9	396	---	---	---	---	-	119694119	GAG	-	119694117	7	5	82	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-IB-8126-01A-11D-2396-08	45882179	119694117	35576443	174	32405											
GPR112	139378	broad.mit.edu	37	chrX	135455156	135455156	+	Frame_Shift_Del	DEL	G	G	-													gctggctttggctgtgctgcGgggggaccacacgtttgatg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:135455156delG	ENST00000394143.1	+	15	8000	c.7709delG	c.(7708-7710)cggfs	p.R2570fs	GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					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.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGTGCTGCGGGGGGACCAC	0.532																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.R2570L(1)	lung(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(7708-7710)cgfs		G protein-coupled receptor 112							252	224	234					X																	135455156		2203	4300	6503	SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455156delG	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.7709delG	X.37:g.135455156delG	ENSP00000377699:p.Arg2570fs					GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs	p.R2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			15	8000	+	Acute lymphoblastic leukemia(192;0.000127)		2570					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Del	DEL	ENST00000394143.1	37	c.7709delG	CCDS35409.1																																																																																				0.532	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			8	2089						8	2089	---	---	---	---	-	135455156	G	-	135455156	7	5	82	1	0	1	0	1	0	0	0	0	6658	1116	39	0	7755	0	GPR112	23	135455156	Frame_Shift_Del	DEL	G	TCGA-IB-8126-01A-11D-2396-08	15761039	135455156	19815404	175	32406											
MCF2	4168	broad.mit.edu	37	chrX	138697052	138697052	+	Frame_Shift_Del	DEL	A	A	-													cattttaccttgtttagatgAaaaaaatggtgtcccagatg							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:138697052delA	ENST00000370576.4	-	10	1560	c.1351delT	c.(1351-1353)tcafs	p.S452fs	MCF2_ENST00000338585.6_Frame_Shift_Del_p.S452fs|MCF2_ENST00000520602.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000519895.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000536274.1_Frame_Shift_Del_p.S413fs|MCF2_ENST00000370573.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000370578.4_Frame_Shift_Del_p.S597fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000414978.1_Frame_Shift_Del_p.S512fs	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	452					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGTTTAGATGAAAAAAATGGT	0.368																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(1531-1533)cafs		MCF.2 cell line derived transforming sequence							133	130	131					X																	138697052		2203	4300	6503	SO:0001589	frameshift_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138697052delA		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1351delT	X.37:g.138697052delA	ENSP00000359608:p.Ser452fs					MCF2_ENST00000370576.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000370573.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000536274.1_Frame_Shift_Del_p.S413fs|MCF2_ENST00000370578.4_Frame_Shift_Del_p.S597fs|MCF2_ENST00000338585.6_Frame_Shift_Del_p.S452fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000519895.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000414978.1_Frame_Shift_Del_p.S512fs	p.S512fs			P10911	MCF2_HUMAN			13	1816	-	Acute lymphoblastic leukemia(192;0.000127)		452			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Frame_Shift_Del	DEL	ENST00000370576.4	37	c.1531delT	CCDS14667.1																																																																																				0.368	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	881						7	881	---	---	---	---	-	138697052	A	-	138697052	7	5	82	1	0	1	0	1	0	0	0	0	9419	246	9	0	1570	0	MCF2	23	138697052	Frame_Shift_Del	DEL	A	TCGA-IB-8126-01A-11D-2396-08	3241896	138697052	16573508	176	32407											
PNMA3	29944	broad.mit.edu	37	chrX	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G													gagatgctacagatgtggcaINSggtgcccgagggggaaaaga							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:152225996_152225997insG	ENST00000370264.4	+	1	610_611	c.584_585insG	c.(583-588)caggtgfs	p.V196fs	PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.V196fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.V196fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	196					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)					cagatgtggcaggtgcccgagg	0.574																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(583-585)cgtfs		paraneoplastic Ma antigen 3																																				SO:0001589	frameshift_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225996_152225997insG	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.586dupG	X.37:g.152225998_152225998dupG	ENSP00000359286:p.Val196fs					PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs	p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	920_921	+	Acute lymphoblastic leukemia(192;6.56e-05)		195					D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	ENST00000370264.4	37	c.584_585insG	CCDS35435.2																																																																																				0.574	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		7	897						7	897	---	---	---	---	G	152225997	-	G	152225996	7	5	82	1	0	1	1	0	0	0	0	0	12197	188	7	0	586	0	PNMA3	23	152225996	Frame_Shift_Ins	INS	-	TCGA-IB-8126-01A-11D-2396-08	13528944	152225996	3044564	177	32408											
HCFC1	3054	broad.mit.edu	37	chrX	153216342	153216342	+	Frame_Shift_Del	DEL	C	C	-													gctgagatttcgctgaagggCccccggccacaggcattgat							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:153216342delC	ENST00000310441.7	-	23	6591	c.5625delG	c.(5623-5625)gggfs	p.G1875fs	HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs|HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1875	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTGAAGGGCCCCCGGCCAC	0.567																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5623-5625)ggfs		host cell factor C1 (VP16-accessory protein)							126	136	133					X																	153216342		1957	4129	6086	SO:0001589	frameshift_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216342delC		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5625delG	X.37:g.153216342delC	ENSP00000309555:p.Gly1875fs					HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs|HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs	p.G1875fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6591	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1875					Q6P4G5	Frame_Shift_Del	DEL	ENST00000310441.7	37	c.5625delG	CCDS44020.1																																																																																				0.567	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		7	2015						7	2015	---	---	---	---	-	153216342	C	-	153216342	7	5	82	1	0	1	0	1	0	0	0	0	7021	726	26	0	498	0	HCFC1	23	153216342	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	990346	153216342	2054218	178	32409											
TKTL1	8277	broad.mit.edu	37	chrX	153541044	153541044	+	Frame_Shift_Del	DEL	C	C	-													gcaggaatcttgacccacagCcccccattgaggactcacct							TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:153541044delC	ENST00000369915.3	+	6	973	c.784delC	c.(784-786)cccfs	p.P263fs	TKTL1_ENST00000369912.2_Frame_Shift_Del_p.P207fs|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	263					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACCCACAGCCCCCCATTGA	0.468																																						ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(784-786)ccfs		transketolase-like 1							134	113	120					X																	153541044		2203	4300	6503	SO:0001589	frameshift_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153541044delC	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.784delC	X.37:g.153541044delC	ENSP00000358931:p.Pro263fs					TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Frame_Shift_Del_p.P207fs	p.P263fs	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			6	973	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		263					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Frame_Shift_Del	DEL	ENST00000369915.3	37	c.784delC	CCDS35448.1																																																																																				0.468	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		7	633						7	633	---	---	---	---	-	153541044	C	-	153541044	7	5	82	1	0	1	0	1	0	0	0	0	15987	739	26	0	806	0	TKTL1	23	153541044	Frame_Shift_Del	DEL	C	TCGA-IB-8126-01A-11D-2396-08	324702	153541044	1729516	179	32410											
CSMD2	114784	broad.mit.edu	37	chr1	34011733	34011733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagcttcacagctgaagcGcatcacagtgcctggatcaa	10	13	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:34011733G>A	ENST00000373381.4	-	57	9180	c.9004C>T	c.(9004-9006)Cgc>Tgc	p.R3002C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2975	Sushi 22. {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)				CAGCTGAAGCGCATCACAGTG	0.612																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9004-9006)Cgc>Tgc		CUB and Sushi multiple domains 2							75	66	69					1																	34011733		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34011733G>A	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.9004C>T	1.37:g.34011733G>A	ENSP00000362479:p.Arg3002Cys						p.R3002C	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			57	9180	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2975			Sushi 22.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9004C>T		.	.	.	.	.	.	.	.	.	.	G	19.58	3.854909	0.71719	.	.	ENSG00000121904	ENST00000373381	T	0.66815	-0.23	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.213233	0.38217	N	0.001762	D	0.84005	0.5377	M	0.93678	3.445	0.80722	D	1	D;D	0.76494	0.994;0.999	P;D	0.70487	0.832;0.969	D	0.85887	0.1426	10	0.48119	T	0.1	.	10.9638	0.47399	0.0:0.0:0.7096:0.2904	.	2858;3002	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	3002	ENSP00000362479:R3002C	ENSP00000241312:R2858C	R	-	1	0	CSMD2	33784320	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	3.711000	0.54868	2.591000	0.87537	0.650000	0.86243	CGC		0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		21	192	0	0	0	1	0	21	192					A	34011733	G	A	34011733	3	1	83	1	0	0	0	0	1	0	0	0	3956	1087	38	1	1947	1	CSMD2	1	34011733	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		34011733	215238888	1	32411											
KIAA0467	23334	broad.mit.edu	37	chr1	43903102	43903102	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caggccctgcgctctgtgctCaatgccttctctgtggtgaa	11	13	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:43903102C>A	ENST00000562955.1	+	43	6042	c.6042C>A	c.(6040-6042)ctC>ctA	p.L2014L	SZT2_ENST00000372442.1_Silent_p.L1172L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2071					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						GCTCTGTGCTCAATGCCTTCT	0.527																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(6040-6042)ctC>ctA		seizure threshold 2 homolog (mouse)							148	135	140					1																	43903102		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43903102C>A	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.6042C>A	1.37:g.43903102C>A						SZT2_ENST00000372442.1_Silent_p.L1172L	p.L2014L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			43	6042	+			2071					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.6042C>A	CCDS30694.2																																																																																				0.527	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		9	509	1	0	2.62144e-13	1	2.7924e-13	9	509					A	43903102	C	A	43903102	2	1	83	1	0	0	0	0	0	0	0	1	8208	813	29	3		3	KIAA0467	1	43903102	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	9891369	43903102	205347519	2	32412											
SSBP3	23648	broad.mit.edu	37	chr1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggtggtggtctcatgCcgctgccgtaattctgcaac	13	10	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				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						TGGTCTCATGCCGCTGCCGTA	0.562																																						ENST00000371320.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(664-666)gGc>gAc		single stranded DNA binding protein 3							145	153	150					1																	54708959		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54708959C>T		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.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp					SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D	p.G222D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN			10	1075	-			222			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.665G>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		0.562	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		7	926	0	0	0	1	0	7	926					T	54708959	C	T	54708959	3	4	83	1	0	0	0	0	1	0	0	0	15233	739	26	2	537	2	SSBP3	1	54708959	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	10805857	54708959	194541662	3	32413											
WLS	79971	broad.mit.edu	37	chr1	68615942	68615942	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaagatgccctgtcggatgtCaccaaacagcagcatccagg	11	12	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:68615942C>T	ENST00000262348.4	-	6	1154	c.901G>A	c.(901-903)Gac>Aac	p.D301N	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.D210N|WLS_ENST00000540432.1_Missense_Mutation_p.D301N|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.D299N|WLS_ENST00000491811.1_5'UTR	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	301					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						TGTCGGATGTCACCAAACAGC	0.512																																						ENST00000262348.4																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						c.(901-903)Gac>Aac		wntless Wnt ligand secretion mediator							146	131	136					1																	68615942		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68615942C>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.901G>A	1.37:g.68615942C>T	ENSP00000262348:p.Asp301Asn					GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000540432.1_Missense_Mutation_p.D301N|WLS_ENST00000354777.2_Missense_Mutation_p.D299N|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.D210N	p.D301N	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN			6	1154	-			301					B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.901G>A	CCDS642.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309247	0.95629	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	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	0.97110	1.0;1.0;1.0;1.0	T	0.68032	-0.5516	10	0.51188	T	0.08	-33.6655	18.0034	0.89203	0.0:1.0:0.0:0.0	.	301;210;301;299	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	N	301;299;301;210	ENSP00000446112:D301N;ENSP00000346829:D299N;ENSP00000262348:D301N;ENSP00000360015:D210N	ENSP00000262348:D301N	D	-	1	0	WLS	68388530	1.000000	0.71417	0.953000	0.39169	0.943000	0.58893	7.298000	0.78815	2.248000	0.74166	0.563000	0.77884	GAC		0.512	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		47	382	0	0	0	1	0	47	382					T	68615942	C	T	68615942	3	4	83	1	0	0	0	0	1	0	0	0	17430	826	29	2	878	2	WLS	1	68615942	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	13906983	68615942	180634679	4	32414											
PSMB4	5692	broad.mit.edu	37	chr1	151372521	151372521	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcggagtggtgattgccGcagacatgctgggatcctac	16	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:151372521G>A	ENST00000290541.6	+	2	259	c.205G>A	c.(205-207)Gca>Aca	p.A69T		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	69					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 inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGATTGCCGCAGACATGCT	0.582																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(205-207)Gca>Aca		proteasome (prosome, macropain) subunit, beta type, 4							124	124	124					1																	151372521		2203	4300	6503	SO:0001583	missense	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372521G>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.205G>A	1.37:g.151372521G>A	ENSP00000290541:p.Ala69Thr						p.A69T	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	259	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		69					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Missense_Mutation	SNP	ENST00000290541.6	37	c.205G>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	37	6.114497	0.97296	.	.	ENSG00000159377	ENST00000290541	T	0.41758	0.99	5.34	5.34	0.76211	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.66378	2.025	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.70487	0.969;0.846	T	0.59899	-0.7367	10	0.66056	D	0.02	-10.9451	17.6208	0.88080	0.0:0.0:1.0:0.0	.	69;69	B4DFL3;P28070	.;PSB4_HUMAN	T	69	ENSP00000290541:A69T	ENSP00000290541:A69T	A	+	1	0	PSMB4	149639145	1.000000	0.71417	0.881000	0.34555	0.995000	0.86356	9.355000	0.97087	2.502000	0.84385	0.561000	0.74099	GCA		0.582	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		5	524	0	0	0	1	0	5	524					A	151372521	G	A	151372521	3	1	83	1	0	0	0	0	1	0	0	0	12726	1087	38	1	211	1	PSMB4	1	151372521	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	82756579	151372521	97878100	5	32415											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	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)	p.S769S(1)		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)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	1134	0	0	0	1	0	8	1134					A	152327955	G	A	152327955	2	1	83	1	0	0	0	0	0	0	0	1	5948	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	955434	152327955	96922666	6	32416											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	274	0	0	0	1	0	7	274					T	153907309	C	T	153907309	2	4	83	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	1579354	153907309	95343312	7	32417											
PRG4	10216	broad.mit.edu	37	chr1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-													caccaagtctgcacccaccaCtcccaaggagcctgcaccca							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)actccc>acc	p.P432del	PRG4_ENST00000367486.3_In_Frame_Del_p.P389del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.P391del|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																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1291-1296)acc>a		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276143_186276145delCTC	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					PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367484.3_Intron	p.TP431del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1337_1339	+			431			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1292_1294delCTC	CCDS1369.1																																																																																				0.655	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		16	508						16	508	---	---	---	---	-	186276145	CTC	-	186276143	7	5	83	1	0	1	0	1	0	0	0	0	12528	565	20	0	1314	0	PRG4	1	186276143	In_Frame_Del	DEL	CTC	TCGA-IB-A5SO-01A-11D-A32N-08	32368834	186276143	62974478	8	32418											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9558806	9558806	+	Frame_Shift_Del	DEL	T	T	-													gaactgctactactgtgtcgTtttttgcccttgcgaaacat							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:9558806delT	ENST00000360635.3	-	3	917	c.21delA	c.(19-21)aaafs	p.K7fs	ITGB1BP1_ENST00000355346.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000456913.2_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000359712.3_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000238091.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000488451.1_Frame_Shift_Del_p.K7fs			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	7					activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TACTGTGTCGTTTTTTGCCCT	0.403																																						ENST00000360635.3																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(19-21)aafs		integrin beta 1 binding protein 1							306	296	300					2																	9558806		2203	4300	6503	SO:0001589	frameshift_variant	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9558806delT	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.21delA	2.37:g.9558806delT	ENSP00000353850:p.Lys7fs					ITGB1BP1_ENST00000359712.3_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000355346.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000238091.4_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Frame_Shift_Del_p.K7fs|ITGB1BP1_ENST00000456913.2_Frame_Shift_Del_p.K7fs	p.K7fs			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	3	917	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		7					D6W4Y9|O14714|Q53RS0	Frame_Shift_Del	DEL	ENST00000360635.3	37	c.21delA	CCDS1662.1																																																																																				0.403	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		7	1002						7	1002	---	---	---	---	-	9558806	T	-	9558806	7	5	83	1	0	1	0	1	0	0	0	0	7921	1722	60	0	605	0	ITGB1BP1	2	9558806	Frame_Shift_Del	DEL	T	TCGA-IB-A5SO-01A-11D-A32N-08		9558806	233640567	9	32419											
DNMT3A	1788	broad.mit.edu	37	chr2	25505560	25505560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagatcaccgcagggtccttTggcgtgtcaccgctttccac	11	14	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:25505560T>C	ENST00000264709.3	-	4	535	c.198A>G	c.(196-198)ccA>ccG	p.P66P	DNMT3A_ENST00000406659.3_Silent_p.P66P|DNMT3A_ENST00000321117.5_Silent_p.P66P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	66					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)					CAGGGTCCTTTGGCGTGTCAC	0.542			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(196-198)ccA>ccG		DNA (cytosine-5-)-methyltransferase 3 alpha							48	58	55					2																	25505560		2202	4297	6499	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25505560T>C		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.198A>G	2.37:g.25505560T>C						DNMT3A_ENST00000321117.5_Silent_p.P66P|DNMT3A_ENST00000406659.3_Silent_p.P66P	p.P66P	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			4	535	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		66					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.198A>G	CCDS33157.1																																																																																				0.542	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		14	288	0	0	0	1	0	14	288					C	25505560	T	C	25505560	2	2	83	1	0	0	0	0	0	0	0	1	4692	1799	63	4		4	DNMT3A	2	25505560	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	15946754	25505560	217693813	10	32420											
NRBP1	29959	broad.mit.edu	37	chr2	27664633	27664633	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgaacaagttcaattttgCcaggaacagtaccctcaact	6	11	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:27664633C>T	ENST00000233557.3	+	19	2394	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.A529V|KRTCAP3_ENST00000543753.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.A521V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	521					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.A521V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TTCAATTTTGCCAGGAACAGT	0.572																																						ENST00000233557.3																			1	Substitution - Missense(1)	p.A521V(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(1561-1563)gCc>gTc		nuclear receptor binding protein 1							163	166	165					2																	27664633		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27664633C>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1562C>T	2.37:g.27664633C>T	ENSP00000233557:p.Ala521Val					NRBP1_ENST00000379863.3_Missense_Mutation_p.A529V|NRBP1_ENST00000379852.3_Missense_Mutation_p.A521V	p.A521V			Q9UHY1	NRBP_HUMAN			19	2394	+	Acute lymphoblastic leukemia(172;0.155)		521					B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.1562C>T	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346025	0.61073	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.14640	2.79;2.79;2.49	5.56	5.56	0.83823	.	0.247697	0.47455	D	0.000236	T	0.11537	0.0281	N	0.14661	0.345	0.34921	D	0.748418	B;B;B	0.28713	0.22;0.043;0.025	B;B;B	0.30401	0.115;0.049;0.013	T	0.18116	-1.0347	10	0.62326	D	0.03	-4.5565	18.0752	0.89425	0.0:1.0:0.0:0.0	.	501;529;521	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	V	521;501;521;529	ENSP00000233557:A521V;ENSP00000369181:A521V;ENSP00000369192:A529V	ENSP00000233557:A521V	A	+	2	0	NRBP1	27518137	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.033000	0.57282	2.615000	0.88500	0.561000	0.74099	GCC		0.572	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		6	716	0	0	0	1	0	6	716					T	27664633	C	T	27664633	3	4	83	1	0	0	0	0	1	0	0	0	10684	739	26	2	1628	2	NRBP1	2	27664633	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	2159073	27664633	215534740	11	32421											
RGPD2	400966	broad.mit.edu	37	chr2	87140987	87140987	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcgatgaggcgcagcaaGgcctacggggagcggtacct	18	10	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:87140987G>A	ENST00000409776.2	+	1	64				RGPD1_ENST00000398193.3_Silent_p.K5K			P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672																																						ENST00000398193.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(13-15)aaG>aaA		RANBP2-like and GRIP domain containing 1							19	28	25					2																	87140987		2182	4283	6465	SO:0001627	intron_variant	400966				intracellular transport		binding	g.chr2:87140987G>A		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	ENST00000409776.2:c.48+5848G>A	2.37:g.87140987G>A						RGPD1_ENST00000409776.2_Intron	p.K5K			Q68DN6	RGPD1_HUMAN			1	53	+			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000409776.2	37	c.15G>A																																																																																					0.672	RGPD1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001024457		4	87	0	0	0	1	0	4	87					A	87140987	G	A	87140987	1	1	83	0	1	0	0	0	0	0	0	0	13336	991	35	2		2	RGPD2	2	87140987	Intron	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	59476354	87140987	156058386	12	32422											
RGPD4	285190	broad.mit.edu	37	chr2	108475980	108475980	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaatcttggtgggatgCggtttgtactctgattcaca	10	7	3	1	rs551635252	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:108475980C>T	ENST00000408999.3	+	11	1681	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	RGPD4_ENST00000354986.4_Missense_Mutation_p.A535V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	535					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGTGGGATGCGGTTTGTACT	0.403													N|||	2	0.000399361	0.0008	0.0014	5008	,	,		17352	0.0		0.0	False		,,,				2504	0.0					ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(1603-1605)gCg>gTg		RANBP2-like and GRIP domain containing 4							29	30	30					2																	108475980		692	1590	2282	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108475980C>T	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.1604C>T	2.37:g.108475980C>T	ENSP00000386810:p.Ala535Val					RGPD4_ENST00000354986.4_Missense_Mutation_p.A535V	p.A535V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			11	1681	+			535					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.1604C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	12.95	2.090060	0.36855	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.55234	0.53;0.53	2.6	2.6	0.31112	.	.	.	.	.	T	0.68522	0.3010	M	0.69823	2.125	0.35765	D	0.820443	D	0.89917	1.0	D	0.76071	0.987	T	0.77351	-0.2620	9	0.72032	D	0.01	-20.8394	11.8656	0.52490	0.0:1.0:0.0:0.0	.	535	Q7Z3J3	RGPD4_HUMAN	V	535;535;293	ENSP00000347081:A535V;ENSP00000386810:A535V	ENSP00000347081:A535V	A	+	2	0	RGPD4	107842412	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	6.722000	0.74735	1.299000	0.44798	0.152000	0.16155	GCG		0.403	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		5	603	0	0	0	1	0	5	603					T	108475980	C	T	108475980	3	4	83	1	0	0	0	0	1	0	0	0	13338	768	27	1	1646	1	RGPD4	2	108475980	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	21334993	108475980	134723393	13	32423											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				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)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				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						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	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.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		7	230						7	230	---	---	---	---	-	128046946	TCT	-	128046944	7	5	83	1	0	1	0	1	0	0	0	0	5232	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-IB-A5SO-01A-11D-A32N-08	19570964	128046944	115152429	14	32424											
RFTN2	130132	broad.mit.edu	37	chr2	198498522	198498522	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cactttcatgatgaagttctTcctcaattccgctttcagat	5	11	4	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:198498522T>C	ENST00000295049.4	-	4	1174	c.638A>G	c.(637-639)gAa>gGa	p.E213G		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	213					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATGAAGTTCTTCCTCAATTCC	0.408																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(637-639)gAa>gGa		raftlin family member 2							236	211	220					2																	198498522		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198498522T>C	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.638A>G	2.37:g.198498522T>C	ENSP00000295049:p.Glu213Gly						p.E213G	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			4	1174	-			213					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.638A>G	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.387682	0.61956	.	.	ENSG00000162944	ENST00000295049	T	0.33865	1.39	5.27	2.9	0.33743	.	2.309500	0.01453	N	0.015562	T	0.39462	0.1079	L	0.57536	1.79	0.34698	D	0.72643	B	0.17268	0.021	B	0.15484	0.013	T	0.33548	-0.9864	10	0.48119	T	0.1	-12.8873	8.1485	0.31126	0.0:0.1588:0.0:0.8412	.	213	Q52LD8	RFTN2_HUMAN	G	213	ENSP00000295049:E213G	ENSP00000295049:E213G	E	-	2	0	RFTN2	198206767	1.000000	0.71417	0.431000	0.26735	0.956000	0.61745	2.615000	0.46368	0.945000	0.37605	0.533000	0.62120	GAA		0.408	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		27	315	0	0	0	1	0	27	315					C	198498522	T	C	198498522	3	2	83	1	0	0	0	0	1	0	0	0	13309	1783	62	4	891	4	RFTN2	2	198498522	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	70451578	198498522	44700851	15	32425											
CLK1	1195	broad.mit.edu	37	chr2	201724929	201724929	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actcctggttcttttccttcGgtgactcttctggaaacgtc	8	12	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:201724929G>T	ENST00000321356.4	-	4	535	c.400C>A	c.(400-402)Cga>Aga	p.R134R	CLK1_ENST00000434813.2_Silent_p.R176R|CLK1_ENST00000492793.1_5'Flank|CLK1_ENST00000409769.2_5'Flank|Y_RNA_ENST00000516950.1_RNA	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	134					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						CTTTTCCTTCGGTGACTCTTC	0.463																																						ENST00000434813.2																			0				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						c.(526-528)Cga>Aga		CDC-like kinase 1							175	147	156					2																	201724929		2203	4300	6503	SO:0001819	synonymous_variant	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201724929G>T	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.400C>A	2.37:g.201724929G>T						CLK1_ENST00000321356.4_Silent_p.R134R	p.R176R	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			4	860	-			134			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Silent	SNP	ENST00000321356.4	37	c.526C>A	CCDS2331.1																																																																																				0.463	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			5	330	1	0	3.59834e-05	1	3.75146e-05	5	330					T	201724929	G	T	201724929	2	4	83	1	0	0	0	0	0	0	0	1	3545	1124	39	3		3	CLK1	2	201724929	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3226407	201724929	41474444	16	32426											
ABCA12	26154	broad.mit.edu	37	chr2	215807679	215807679	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgcaaagatccaataCattgaaactttccattcacc	5	11	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr2:215807679C>T	ENST00000272895.7	-	50	7625	c.7406G>A	c.(7405-7407)tGt>tAt	p.C2469Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.C2151Y|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2469	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATCCAATACATTGAAACTT	0.393																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(7405-7407)tGt>tAt		ATP-binding cassette, sub-family A (ABC1), member 12							132	115	121					2																	215807679		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215807679C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7406G>A	2.37:g.215807679C>T	ENSP00000272895:p.Cys2469Tyr					ABCA12_ENST00000389661.4_Missense_Mutation_p.C2151Y|AC072062.1_ENST00000607412.1_RNA	p.C2469Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	50	7625	-		Renal(323;0.127)	2469			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.7406G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711011	0.89112	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.97870	-4.58;-4.58	5.65	5.65	0.86999	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	L	0.58969	1.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99529	1.0960	10	0.87932	D	0	.	19.6795	0.95957	0.0:1.0:0.0:0.0	.	2469;2151	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	2469;2151	ENSP00000272895:C2469Y;ENSP00000374312:C2151Y	ENSP00000272895:C2469Y	C	-	2	0	ABCA12	215515924	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	7.521000	0.81832	2.821000	0.97095	0.650000	0.86243	TGT		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		4	156	0	0	0	1	0	4	156					T	215807679	C	T	215807679	3	4	83	1	0	0	0	0	1	0	0	0	30	478	17	2	397	2	ABCA12	2	215807679	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	14082750	215807679	27391694	17	32427											
SLC6A1	6529	broad.mit.edu	37	chr3	11067472	11067472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctataggtgtggctggatgCggcaacccagatcttcttct	11	11	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:11067472C>T	ENST00000287766.4	+	9	1284	c.863C>T	c.(862-864)gCg>gTg	p.A288V	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A110V	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	288					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)	TGGCTGGATGCGGCAACCCAG	0.517																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(862-864)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						105	106	106					3																	11067472		2203	4300	6503	SO:0001583	missense	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11067472C>T		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.863C>T	3.37:g.11067472C>T	ENSP00000287766:p.Ala288Val					SLC6A1_ENST00000536032.1_Missense_Mutation_p.A110V	p.A288V	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	9	1284	+		Ovarian(110;0.0392)	288					Q8N4K8	Missense_Mutation	SNP	ENST00000287766.4	37	c.863C>T	CCDS2603.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030610	0.93575	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	D;D	0.91124	-2.79;-2.79	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000004	D	0.97461	0.9169	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99016	1.0816	10	0.87932	D	0	.	18.4501	0.90700	0.0:1.0:0.0:0.0	.	288	P30531	SC6A1_HUMAN	V	288;110	ENSP00000287766:A288V;ENSP00000445171:A110V	ENSP00000287766:A288V	A	+	2	0	SLC6A1	11042472	1.000000	0.71417	0.984000	0.44739	0.797000	0.45037	7.449000	0.80643	2.595000	0.87683	0.561000	0.74099	GCG		0.517	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		5	471	0	0	0	1	0	5	471					T	11067472	C	T	11067472	3	4	83	1	0	0	0	0	1	0	0	0	14723	768	27	1	889	1	SLC6A1	3	11067472	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		11067472	186954958	18	32428											
TGFBR2	7048	broad.mit.edu	37	chr3	30715708	30715708	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccatggctctggtgctctggGaaatgacatctcgctgtaat	11	10	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:30715708G>T	ENST00000295754.5	+	5	1748	c.1366G>T	c.(1366-1368)Gaa>Taa	p.E456*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E481*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	456	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						GGTGCTCTGGGAAATGACATC	0.458																																						ENST00000295754.5																			0				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						c.(1366-1368)Gaa>Taa		transforming growth factor, beta receptor II (70/80kDa)							154	131	138					3																	30715708		2203	4300	6503	SO:0001587	stop_gained	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30715708G>T		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.1366G>T	3.37:g.30715708G>T	ENSP00000295754:p.Glu456*					TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.E481*	p.E456*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			5	1748	+			456			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	ENST00000295754.5	37	c.1366G>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	43	9.989757	0.99312	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	456;481;286	.	ENSP00000295754:E456X	E	+	1	0	TGFBR2	30690712	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.701000	0.92244	0.650000	0.86243	GAA		0.458	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			22	245	1	0	7.41877e-09	1	7.77583e-09	22	245					T	30715708	G	T	30715708	4	4	83	1	0	0	0	0	0	1	0	0	15874	1175	41	3	1463	3	TGFBR2	3	30715708	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	19648236	30715708	167306722	19	32429											
DHX30	22907	broad.mit.edu	37	chr3	47889357	47889358	+	Frame_Shift_Del	DEL	AT	AT	-													agattgtcttggccaccaacAttgctgagacttccatcaca							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:47889357_47889358delAT	ENST00000445061.1	+	14	2604_2605	c.2197_2198delAT	c.(2197-2199)attfs	p.I733fs	DHX30_ENST00000446256.2_Frame_Shift_Del_p.I694fs|DHX30_ENST00000348968.4_Frame_Shift_Del_p.I705fs|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Frame_Shift_Del_p.I761fs	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	733	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)		GGCCACCAACATTGCTGAGACT	0.535																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2080-2082)tfs		DEAH (Asp-Glu-Ala-His) box helicase 30																																				SO:0001589	frameshift_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47889357_47889358delAT	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.2197_2198delAT	3.37:g.47889357_47889358delAT	ENSP00000405620:p.Ile733fs					DHX30_ENST00000348968.4_Frame_Shift_Del_p.I705fs|DHX30_ENST00000457607.1_Frame_Shift_Del_p.I761fs|DHX30_ENST00000445061.1_Frame_Shift_Del_p.I733fs	p.I694fs	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2652_2653	+			733			Helicase C-terminal.		A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Frame_Shift_Del	DEL	ENST00000445061.1	37	c.2080_2081delAT	CCDS2759.1																																																																																				0.535	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		20	233						20	233	---	---	---	---	-	47889358	AT	-	47889357	7	5	83	1	0	1	0	1	0	0	0	0	4520	217	8	0	2254	0	DHX30	3	47889357	Frame_Shift_Del	DEL	AT	TCGA-IB-A5SO-01A-11D-A32N-08	17173649	47889357	150133073	20	32430											
CELSR3	1951	broad.mit.edu	37	chr3	48677390	48677390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctcgtgaggggtgccGgctaggcacctggtccagct	16	12	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:48677390G>A	ENST00000164024.4	-	34	9908	c.9628C>T	c.(9628-9630)Cgg>Tgg	p.R3210W	CELSR3_ENST00000544264.1_Missense_Mutation_p.R3215W	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3210					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)		GAGGGGTGCCGGCTAGGCACC	0.657																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(9643-9645)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 3							48	58	55					3																	48677390		2202	4300	6502	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48677390G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.9628C>T	3.37:g.48677390G>A	ENSP00000164024:p.Arg3210Trp					CELSR3_ENST00000164024.4_Missense_Mutation_p.R3210W	p.R3215W			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	35	9923	-			3210					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.9643C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946434	0.73672	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.73047	-0.71;-0.71	4.92	1.72	0.24424	.	.	.	.	.	T	0.68952	0.3057	L	0.34521	1.04	0.32023	N	0.600519	D;D;D	0.71674	0.99;0.995;0.998	P;P;P	0.53490	0.727;0.661;0.661	T	0.74377	-0.3685	9	0.72032	D	0.01	.	12.4996	0.55948	0.0:0.0:0.4274:0.5726	.	3215;3210;3308	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	W	3210;3215	ENSP00000164024:R3210W;ENSP00000445694:R3215W	ENSP00000164024:R3210W	R	-	1	2	CELSR3	48652394	0.999000	0.42202	0.996000	0.52242	0.912000	0.54170	2.199000	0.42715	1.035000	0.39972	0.561000	0.74099	CGG		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		32	255	0	0	0	1	0	32	255					A	48677390	G	A	48677390	3	1	83	1	0	0	0	0	1	0	0	0	3232	1115	39	1	318	1	CELSR3	3	48677390	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	788033	48677390	149345040	21	32431											
MST1	327	broad.mit.edu	37	chr3	49723112	49723112	+	IGR	DEL	T	T	-													catggctatccccatctgggTtccggcagaagttctcctcc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43	42	43					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	234						7	234	---	---	---	---	-	49723112	T	-	49723112	6	5	83	0	1	1	0	1	0	0	0	0	9931	1725	60	0		0	MST1	3	49723112	IGR	DEL	T	TCGA-IB-A5SO-01A-11D-A32N-08	1045722	49723112	148299318	22	32432											
RBM6	10180	broad.mit.edu	37	chr3	50085685	50085685	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctttacagggaactcTaatgatccaggacaaagaag	9	7	2	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:50085685T>G	ENST00000266022.4	+	7	1824	c.1565T>G	c.(1564-1566)cTa>cGa	p.L522R	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_5'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.L390R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	522	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)		CAGGGAACTCTAATGATCCAG	0.433																																						ENST00000443081.1																			0				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						c.(1168-1170)cTa>cGa		RNA binding motif protein 6							93	91	92					3																	50085685		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50085685T>G	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.1565T>G	3.37:g.50085685T>G	ENSP00000266022:p.Leu522Arg					RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000266022.4_Missense_Mutation_p.L522R|RBM6_ENST00000442092.1_5'UTR|RBM6_ENST00000441115.1_3'UTR	p.L390R			P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	7	2088	+			522					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1169T>G	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608302	0.66558	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.10192	2.9;2.9	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.208568	0.30859	N	0.008727	T	0.29423	0.0733	M	0.71206	2.165	0.80722	D	1	D;D	0.55800	0.973;0.973	D;P	0.64144	0.922;0.898	T	0.00998	-1.1486	9	.	.	.	-3.54	13.227	0.59921	0.0:0.0:0.0:1.0	.	390;522	E9PGM9;P78332	.;RBM6_HUMAN	R	522;390	ENSP00000266022:L522R;ENSP00000396466:L390R	.	L	+	2	0	RBM6	50060689	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.266000	0.58871	2.141000	0.66446	0.528000	0.53228	CTA		0.433	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		15	107	0	0	0	1	0	15	107					G	50085685	T	G	50085685	3	3	83	1	0	0	0	0	1	0	0	0	13194	1522	53	4	1587	4	RBM6	3	50085685	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	362573	50085685	147936745	23	32433											
GPR128	84873	broad.mit.edu	37	chr3	100365497	100365497	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgggacacatatggctgtCaaaaagacaagggcactgat	11	8	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:100365497C>T	ENST00000273352.3	+	10	1463	c.1195C>T	c.(1195-1197)Caa>Taa	p.Q399*	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Nonsense_Mutation_p.Q104*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	399	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATATGGCTGTCAAAAAGACAA	0.398																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(1195-1197)Caa>Taa		G protein-coupled receptor 128							107	107	107					3																	100365497		2203	4300	6503	SO:0001587	stop_gained	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100365497C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1195C>T	3.37:g.100365497C>T	ENSP00000273352:p.Gln399*					GPR128_ENST00000475887.1_Nonsense_Mutation_p.Q104*	p.Q399*	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			10	1463	+			399			GPS.		Q14D94|Q86SQ2	Nonsense_Mutation	SNP	ENST00000273352.3	37	c.1195C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120168	0.94385	.	.	ENSG00000144820	ENST00000273352;ENST00000475887	.	.	.	5.32	-5.99	0.02213	.	1.572660	0.03413	N	0.205109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.2344	0.00184	0.3615:0.1523:0.1933:0.293	.	.	.	.	X	399;104	.	ENSP00000273352:Q399X	Q	+	1	0	GPR128	101848187	0.000000	0.05858	0.003000	0.11579	0.199000	0.23934	-1.251000	0.02882	-0.824000	0.04295	-0.176000	0.13171	CAA		0.398	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			24	222	0	0	0	1	0	24	222					T	100365497	C	T	100365497	4	4	83	1	0	0	0	0	0	1	0	0	6670	827	29	2	1233	2	GPR128	3	100365497	Nonsense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	50279812	100365497	97656933	24	32434											
MCM2	4171	broad.mit.edu	37	chr3	127325138	127325138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaaccacatccatgtccGcatctcccacctgcctctgg	5	20	2	0	rs148533176		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:127325138G>A	ENST00000265056.7	+	5	1095	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	284					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						ATCCATGTCCGCATCTCCCAC	0.632																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(850-852)cGc>cAc		minichromosome maintenance complex component 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	156	126	136		851	5.1	1	3	dbSNP_134	136	0,8600		0,0,4300	no	missense	MCM2	NM_004526.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	284/905	127325138	1,13005	2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127325138G>A	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.851G>A	3.37:g.127325138G>A	ENSP00000265056:p.Arg284His						p.R284H	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			5	1095	+			284					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.851G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404519|4.404519	0.83230|0.83230	2.27E-4|2.27E-4	0.0|0.0	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.14640	.|2.49	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	0.48370|0.48370	0.1496|0.1496	M|M	0.91354|0.91354	3.2|3.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.993;0.999;0.999	T|T	0.60796|0.60796	-0.7192|-0.7192	5|10	.|0.66056	.|D	.|0.02	-27.6015|-27.6015	18.5425|18.5425	0.91033|0.91033	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|265;154;284	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	T|H	147|284;188;265	.|ENSP00000265056:R284H	.|ENSP00000265056:R284H	A|R	+|+	1|2	0|0	MCM2|MCM2	128807828|128807828	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.298000|0.298000	0.27526|0.27526	9.834000|9.834000	0.99428|0.99428	2.363000|2.363000	0.80096|0.80096	0.591000|0.591000	0.81541|0.81541	GCA|CGC		0.632	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			6	481	0	0	0	1	0	6	481					A	127325138	G	A	127325138	3	1	83	1	0	0	0	0	1	0	0	0	9427	1087	38	1	869	1	MCM2	3	127325138	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26959641	127325138	70697292	25	32435											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	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.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		8	284						8	284	---	---	---	---	-	149260196	CTG	-	149260194	7	5	83	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-IB-A5SO-01A-11D-A32N-08	21935056	149260194	48762236	26	32436											
MUC4	4585	broad.mit.edu	37	chr3	195481086	195481086	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttcccggctcacccGcacagtgccgcccatcccca	8	22	1	0	rs145047205		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr3:195481086G>A	ENST00000346145.4	-	18	2657	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	MUC4_ENST00000349607.4_Missense_Mutation_p.A822V|MUC4_ENST00000475231.1_Missense_Mutation_p.A5057V|MUC4_ENST00000463781.3_Missense_Mutation_p.A5109V	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1866	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)		CGGCTCACCCGCACAGTGCCG	0.617																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(15325-15327)gCg>gTg		mucin 4, cell surface associated		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	63	69	67		2618,15326,2465	3.8	1	3	dbSNP_134	67	1,8599		0,1,4299	yes	missense,missense,missense	MUC4	NM_004532.5,NM_018406.6,NM_138297.4	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	873/1177,5109/5413,822/1126	195481086	1,13005	2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195481086G>A	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.2618C>T	3.37:g.195481086G>A	ENSP00000304207:p.Ala873Val					MUC4_ENST00000349607.4_Missense_Mutation_p.A822V|MUC4_ENST00000346145.4_Missense_Mutation_p.A873V|MUC4_ENST00000475231.1_Missense_Mutation_p.A5057V	p.A5109V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	19	15785	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1866					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.15326C>T	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.569346	0.28003	0.0	1.16E-4	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38401	1.14;1.5;1.43;1.46	4.69	3.8	0.43715	.	0.118165	0.37715	N	0.001962	T	0.25382	0.0617	L	0.35288	1.05	0.24930	N	0.991925	P;P;P;P;P;D	0.53885	0.89;0.605;0.605;0.754;0.754;0.963	B;B;B;B;B;B	0.42386	0.254;0.095;0.095;0.108;0.108;0.386	T	0.09250	-1.0683	10	0.15952	T	0.53	-6.024	10.5605	0.45142	0.0935:0.0:0.9065:0.0	.	4981;822;873;5109;5057;1814	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	V	822;873;5109;5057;1609	ENSP00000338109:A822V;ENSP00000304207:A873V;ENSP00000417498:A5109V;ENSP00000420243:A5057V	ENSP00000304207:A873V	A	-	2	0	MUC4	196966757	0.999000	0.42202	0.981000	0.43875	0.050000	0.14768	3.049000	0.49869	1.070000	0.40811	0.443000	0.29094	GCG		0.617	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		7	489	0	0	0	1	0	7	489					A	195481086	G	A	195481086	3	1	83	1	0	0	0	0	1	0	0	0	10019	1087	38	1	940	1	MUC4	3	195481086	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	46220892	195481086	2541344	27	32437											
SORCS2	57537	broad.mit.edu	37	chr4	7716916	7716916	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctcctcccagcgactaCggatttgagcgctcctcctc	7	18	0	1	rs376351462		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:7716916C>T	ENST00000507866.2	+	17	2239	c.2130C>T	c.(2128-2130)taC>taT	p.Y710Y	SORCS2_ENST00000329016.9_Silent_p.Y538Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	710					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCGACTACGGATTTGAGC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		12097	0.001		0.0	False		,,,				2504	0.0					ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(2128-2130)taC>taT		sortilin-related VPS10 domain containing receptor 2		C		2,4028		0,2,2013	149	155	153		2130	0.4	1	4		153	0,8326		0,0,4163	no	coding-synonymous	SORCS2	NM_020777.2		0,2,6176	TT,TC,CC		0.0,0.0496,0.0162		710/1160	7716916	2,12354	2015	4163	6178	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7716916C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2130C>T	4.37:g.7716916C>T						SORCS2_ENST00000329016.9_Silent_p.Y538Y	p.Y710Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			17	2239	+			710					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.2130C>T	CCDS47008.1																																																																																				0.597	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		43	455	0	0	0	1	0	43	455					T	7716916	C	T	7716916	2	4	83	1	0	0	0	0	0	0	0	1	14981	547	19	1		1	SORCS2	4	7716916	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		7716916	183437360	28	32438											
CCDC158	339965	broad.mit.edu	37	chr4	77276505	77276505	+	Frame_Shift_Del	DEL	A	A	-													catttgtcattgcctcttccAaaaactgtatcttgctctga							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:77276505delA	ENST00000388914.3	-	14	2410	c.2258delT	c.(2257-2259)ttgfs	p.L753fs	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	753										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGCCTCTTCCAAAAACTGTAT	0.443																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2257-2259)tgfs		coiled-coil domain containing 158							228	212	217					4																	77276505		1926	4142	6068	SO:0001589	frameshift_variant	339965							g.chr4:77276505delA	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2258delT	4.37:g.77276505delA	ENSP00000373566:p.Leu753fs						p.L753fs	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			14	2410	-			753					Q8IYQ1|Q8N7D4|Q8N7E3	Frame_Shift_Del	DEL	ENST00000388914.3	37	c.2258delT	CCDS43242.1																																																																																				0.443	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		7	479						7	479	---	---	---	---	-	77276505	A	-	77276505	7	5	83	1	0	1	0	1	0	0	0	0	2797	131	5	0	1127	0	CCDC158	4	77276505	Frame_Shift_Del	DEL	A	TCGA-IB-A5SO-01A-11D-A32N-08	69559589	77276505	113877771	29	32439											
BMP2K	55589	broad.mit.edu	37	chr4	79792139	79792139	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacagcaacaGcagcagcagcagcagcagca	11	14	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:79792139G>A	ENST00000335016.5	+	11	1600	c.1434G>A	c.(1432-1434)caG>caA	p.Q478Q	BMP2K_ENST00000502871.1_Silent_p.Q478Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	478	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.|Q -> R (in Ref. 4; AAH36021). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						aacagcaacagcagcagcagc	0.498																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1432-1434)caG>caA		BMP2 inducible kinase							19	23	22					4																	79792139		2047	3976	6023	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792139G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1434G>A	4.37:g.79792139G>A						BMP2K_ENST00000502871.1_Silent_p.Q478Q	p.Q478Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1600	+			478	Missing (in Ref. 2; CAB70863).|Q -> R (in Ref. 3; AAH36021).		Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1434G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	1.944	-0.442923	0.04604	.	.	ENSG00000138756	ENST00000502613	.	.	.	0.589	-0.547	0.11836	.	.	.	.	.	T	0.43831	0.1265	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.22068	-1.0227	4	.	.	.	.	4.047	0.09778	0.3256:0.0:0.6744:0.0	.	.	.	.	T	171	.	.	A	+	1	0	BMP2K	80011163	0.955000	0.32602	0.218000	0.23776	0.072000	0.16883	0.658000	0.24979	-0.302000	0.08869	0.174000	0.16983	GCA		0.498	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		5	160	0	0	0	1	0	5	160					A	79792139	G	A	79792139	2	1	83	1	0	0	0	0	0	0	0	1	1462	962	34	2		2	BMP2K	4	79792139	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	2515634	79792139	111362137	30	32440											
PPP3CA	5530	broad.mit.edu	37	chr4	101947138	101947138	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcatctctgcgaggcgGcatcctctcattaattcggt	10	12	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:101947138G>A	ENST00000394854.3	-	14	2133	c.1450C>T	c.(1450-1452)Ccg>Tcg	p.P484S	PPP3CA_ENST00000394853.4_Missense_Mutation_p.P474S|PPP3CA_ENST00000523694.2_Missense_Mutation_p.P417S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P252S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P432S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.P386S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	484	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)		CTGCGAGGCGGCATCCTCTCA	0.468																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1450-1452)Ccg>Tcg		protein phosphatase 3, catalytic subunit, alpha isozyme							208	197	201					4																	101947138		2203	4300	6503	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:101947138G>A		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.1450C>T	4.37:g.101947138G>A	ENSP00000378323:p.Pro484Ser					PPP3CA_ENST00000394853.4_Missense_Mutation_p.P474S|PPP3CA_ENST00000523694.2_Missense_Mutation_p.P417S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.P386S|PPP3CA_ENST00000323055.6_Missense_Mutation_p.P432S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P252S	p.P484S	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	14	2133	-			484			Inhibitory domain.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.1450C>T	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913627	0.72983	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46;3.46	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.35248	0.0925	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.998;1.0;1.0	T	0.28650	-1.0037	10	0.87932	D	0	-9.9218	20.0473	0.97613	0.0:0.0:1.0:0.0	.	484;252;432;474;386;417	Q08209;A8W6Z8;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.;.	S	252;484;432;474;386;417	ENSP00000422781:P252S;ENSP00000378323:P484S;ENSP00000320580:P432S;ENSP00000378322:P474S;ENSP00000422990:P386S;ENSP00000429350:P417S	ENSP00000320580:P432S	P	-	1	0	PPP3CA	102166161	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.502000	0.97981	2.722000	0.93159	0.655000	0.94253	CCG		0.468	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		5	475	0	0	0	1	0	5	475					A	101947138	G	A	101947138	3	1	83	1	0	0	0	0	1	0	0	0	12444	1203	42	2	119	2	PPP3CA	4	101947138	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	22154999	101947138	89207138	31	32441											
ANK2	287	broad.mit.edu	37	chr4	114179218	114179218	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgcacagaatggttttactCcactgcacattgcctgcaag	8	11	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:114179218C>T	ENST00000357077.4	+	12	1254	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	ANK2_ENST00000506722.1_Missense_Mutation_p.P380S|ANK2_ENST00000264366.6_Missense_Mutation_p.P401S|ANK2_ENST00000394537.3_Missense_Mutation_p.P401S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	401					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)		TGGTTTTACTCCACTGCACAT	0.398																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1201-1203)Cca>Tca		ankyrin 2, neuronal							105	99	101					4																	114179218		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114179218C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1201C>T	4.37:g.114179218C>T	ENSP00000349588:p.Pro401Ser					ANK2_ENST00000264366.6_Missense_Mutation_p.P401S|ANK2_ENST00000506722.1_Missense_Mutation_p.P380S|ANK2_ENST00000394537.3_Missense_Mutation_p.P401S	p.P401S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	12	1254	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	401					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1201C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969555	0.92855	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.78003	-1.14;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.53938	D	0.000051	D	0.88768	0.6526	M	0.75884	2.315	0.80722	D	1	D;P;P;P;D	0.89917	1.0;0.63;0.911;0.635;0.998	D;P;P;B;D	0.87578	0.998;0.495;0.755;0.396;0.997	D	0.88615	0.3159	10	0.72032	D	0.01	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	401;401;401;380;380	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	380;380;380;416;401;401;401;380	ENSP00000423799:P380S;ENSP00000421011:P380S;ENSP00000421067:P380S;ENSP00000424722:P416S;ENSP00000378044:P401S;ENSP00000349588:P401S;ENSP00000264366:P401S	ENSP00000264366:P401S	P	+	1	0	ANK2	114398667	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.817000	0.96982	0.563000	0.77884	CCA		0.398	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	188	0	0	0	1	0	7	188					T	114179218	C	T	114179218	3	4	83	1	0	0	0	0	1	0	0	0	621	855	30	2	1272	2	ANK2	4	114179218	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	12232080	114179218	76975058	32	32442											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct					rs372496848		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	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)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	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.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	171						7	171	---	---	---	---	-	140810641	GCT	-	140810639	7	5	83	1	0	1	0	1	0	0	0	0	9248	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-IB-A5SO-01A-11D-A32N-08	26631421	140810639	50343637	33	32443											
NAF1	92345	broad.mit.edu	37	chr4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggccctggaaaatcctcGtgtgaattctctgttacgat	9	10	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	375					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)				GAAAATCCTCGTGTGAATTCT	0.448																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1123-1125)Cga>Tga		nuclear assembly factor 1 ribonucleoprotein							105	111	109					4																	164050411		2203	4300	6503	SO:0001587	stop_gained	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050411G>A		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.1123C>T	4.37:g.164050411G>A	ENSP00000274054:p.Arg375*					NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.R375*	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1316	-	all_hematologic(180;0.166)	Prostate(90;0.109)	375					D3DP28|E9PAZ2	Nonsense_Mutation	SNP	ENST00000274054.2	37	c.1123C>T	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808836	0.50421	.	.	ENSG00000145414	ENST00000274054	.	.	.	4.71	-1.19	0.09585	.	0.519016	0.17234	N	0.181810	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-2.034	3.5873	0.07975	0.0796:0.3444:0.2622:0.3139	.	.	.	.	X	375	.	ENSP00000274054:R375X	R	-	1	2	NAF1	164269861	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	0.134000	0.15932	-0.399000	0.07668	-0.218000	0.12543	CGA		0.448	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		8	248	0	0	0	1	0	8	248					A	164050411	G	A	164050411	4	1	83	1	0	0	0	0	0	1	0	0	10181	1153	40	1	506	1	NAF1	4	164050411	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	23239772	164050411	27103865	34	32444											
CCDC110	256309	broad.mit.edu	37	chr4	186379493	186379493	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcattttctatgcttcttaCgtaattttctaaaagtattt	3	6	4	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:186379493C>T	ENST00000307588.3	-	6	2323	c.2248G>A	c.(2248-2250)Gta>Ata	p.V750I	CCDC110_ENST00000510617.1_Missense_Mutation_p.V750I|CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	750						nucleus (GO:0005634)		p.V750I(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)		ATGCTTCTTACGTAATTTTCT	0.284																																						ENST00000307588.3																			1	Substitution - Missense(1)	p.V750I(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30						c.(2248-2250)Gta>Ata		coiled-coil domain containing 110							59	58	58					4																	186379493		2203	4297	6500	SO:0001583	missense	256309					nucleus		g.chr4:186379493C>T	AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.2248G>A	4.37:g.186379493C>T	ENSP00000306776:p.Val750Ile					CCDC110_ENST00000393540.3_Missense_Mutation_p.V713I|CCDC110_ENST00000510617.1_Missense_Mutation_p.V750I	p.V750I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)	6	2323	-		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)	750					Q86YI9|Q8N7W0	Missense_Mutation	SNP	ENST00000307588.3	37	c.2248G>A	CCDS3843.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.763163	0.31228	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.28895	1.59;1.59;1.59	5.54	3.55	0.40652	.	0.441395	0.19156	N	0.121335	T	0.30386	0.0763	M	0.63428	1.95	0.09310	N	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.50934	0.654;0.654;0.654	T	0.18871	-1.0323	10	0.14252	T	0.57	-6.4794	1.659	0.02787	0.2086:0.4783:0.1387:0.1745	.	750;713;750	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	I	713;750;750	ENSP00000377172:V713I;ENSP00000306776:V750I;ENSP00000427246:V750I	ENSP00000306776:V750I	V	-	1	0	CCDC110	186616487	0.025000	0.19082	0.931000	0.37212	0.983000	0.72400	0.893000	0.28336	1.471000	0.48121	0.650000	0.86243	GTA		0.284	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360519.2	NM_152775		4	72	0	0	0	1	0	4	72					T	186379493	C	T	186379493	3	4	83	1	0	0	0	0	1	0	0	0	2754	536	19	1	261	1	CCDC110	4	186379493	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	22329082	186379493	4774783	35	32445											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc					rs376893532		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		8	187						8	187	---	---	---	---	A	190878556	-	A	190878555	7	5	83	1	0	1	1	0	0	0	0	0	6073	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	4499062	190878555	275721	36	32446											
MARCH6	10299	broad.mit.edu	37	chr5	10426548	10426548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttcactatattgttcGtaaactggcagctcccgtga	8	11	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:10426548G>A	ENST00000274140.5	+	24	2552	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	807					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TATATTGTTCGTAAACTGGCA	0.418																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2419-2421)cGt>cAt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							431	367	389					5																	10426548		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426548G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2420G>A	5.37:g.10426548G>A	ENSP00000274140:p.Arg807His					MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H	p.R807H	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			24	2552	+			807					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2420G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560354	0.45590	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.53857	1.63;0.61;1.63;0.6	5.63	3.85	0.44370	.	0.049904	0.85682	D	0.000000	T	0.48750	0.1517	M	0.61703	1.905	0.58432	D	0.999999	B;B;B;B	0.14012	0.006;0.003;0.003;0.009	B;B;B;B	0.11329	0.006;0.002;0.003;0.003	T	0.43782	-0.9370	10	0.42905	T	0.14	-13.3496	11.15	0.48453	0.0662:0.0:0.8052:0.1285	.	702;759;387;807	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	759;702;807;505	ENSP00000414643:R759H;ENSP00000425930:R702H;ENSP00000274140:R807H;ENSP00000424512:R505H	ENSP00000274140:R807H	R	+	2	0	MARCH6	10479548	0.998000	0.40836	0.504000	0.27639	0.951000	0.60555	3.730000	0.55006	0.849000	0.35215	0.655000	0.94253	CGT		0.418	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		5	504	0	0	0	1	0	5	504					A	10426548	G	A	10426548	3	1	83	1	0	0	0	0	1	0	0	0	9346	1145	40	1	2514	1	MARCH6	5	10426548	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		10426548	170488712	37	32447											
UGT3A1	133688	broad.mit.edu	37	chr5	35954469	35954469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcatagggcttgaggtgCgtcgctcccccagtctggag	15	11	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:35954469C>T	ENST00000274278.3	-	7	1764	c.1407G>A	c.(1405-1407)acG>acA	p.T469T	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	469						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)			GCTTGAGGTGCGTCGCTCCCC	0.602																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(1405-1407)acG>acA		UDP glycosyltransferase 3 family, polypeptide A1							101	77	85					5																	35954469		2203	4300	6503	SO:0001819	synonymous_variant	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35954469C>T		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.1407G>A	5.37:g.35954469C>T							p.T469T	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1764	-	all_lung(31;0.000197)		469					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	ENST00000274278.3	37	c.1407G>A	CCDS3913.1																																																																																				0.602	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		5	154	0	0	0	1	0	5	154					T	35954469	C	T	35954469	2	4	83	1	0	0	0	0	0	0	0	1	17017	755	27	1		1	UGT3A1	5	35954469	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	25527921	35954469	144960791	38	32448											
FAM71B	153745	broad.mit.edu	37	chr5	156590199	156590199	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agactggcggcccccgccatCgaggtggaagtaccttccaa	12	14	0	1	rs369213663		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr5:156590199C>T	ENST00000302938.4	-	2	1172	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	359						nucleus (GO:0005634)		p.S359S(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCCCGCCATCGAGGTGGAAG	0.572																																						ENST00000302938.4																			1	Substitution - coding silent(1)	p.S359S(1)	large_intestine(1)	NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1075-1077)tcG>tcA		family with sequence similarity 71, member B		C		0,4406		0,0,2203	35	38	37		1077	-4	0	5		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM71B	NM_130899.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		359/606	156590199	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590199C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1077G>A	5.37:g.156590199C>T							p.S359S	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1172	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	359					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1077G>A	CCDS4335.1																																																																																				0.572	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		21	185	0	0	0	1	0	21	185					T	156590199	C	T	156590199	2	4	83	1	0	0	0	0	0	0	0	1	5633	871	31	1		1	FAM71B	5	156590199	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	120635730	156590199	24325061	39	32449											
FKBPL	63943	broad.mit.edu	37	chr6	32096646	32096646	+	Frame_Shift_Del	DEL	T	T	-													ttcttgaggtcagcagttgcTttttccaggttcccaagggc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:32096646delT	ENST00000375156.3	-	2	1182	c.912delA	c.(910-912)aaafs	p.K304fs	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	304					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)										CAGCAGTTGCTTTTTCCAGGT	0.587																																						ENST00000375156.3																			0											c.(910-912)aafs		FK506 binding protein like							90	96	94					6																	32096646		2203	4300	6503	SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096646delT	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.912delA	6.37:g.32096646delT	ENSP00000364298:p.Lys304fs						p.K304fs	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	1182	-			304					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Del	DEL	ENST00000375156.3	37	c.912delA	CCDS4738.1																																																																																				0.587	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			7	663						7	663	---	---	---	---	-	32096646	T	-	32096646	7	5	83	1	0	1	0	1	0	0	0	0	5941	1606	56	0	141	0	FKBPL	6	32096646	Frame_Shift_Del	DEL	T	TCGA-IB-A5SO-01A-11D-A32N-08		32096646	139018421	40	32450											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217832	44217832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtacctagaagagaggCgggtcaaagaagtagtgaag	15	5	1	5			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:44217832C>T	ENST00000371554.1	+	5	803	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	197					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)			AGAAGAGAGGCGGGTCAAAGA	0.433																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(589-591)Cgg>Tgg		heat shock protein 90kDa alpha (cytosolic), class B member 1							101	105	104					6																	44217832		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44217832C>T	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.589C>T	6.37:g.44217832C>T	ENSP00000360609:p.Arg197Trp					HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W	p.R197W			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	803	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		197					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.589C>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774006	0.69992	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.11821	2.74;2.74;2.74	4.49	2.63	0.31362	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000002	T	0.08088	0.0202	N	0.11255	0.115	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.957;0.988;0.991	T	0.22487	-1.0215	10	0.87932	D	0	-12.2293	6.6825	0.23127	0.1472:0.6922:0.0:0.1606	.	159;187;197	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	W	149;197;197;197	ENSP00000360709:R197W;ENSP00000325875:R197W;ENSP00000360609:R197W	ENSP00000325875:R197W	R	+	1	2	HSP90AB1	44325810	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.169000	0.31871	0.305000	0.22832	0.557000	0.71058	CGG		0.433	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		5	279	0	0	0	1	0	5	279					T	44217832	C	T	44217832	3	4	83	1	0	0	0	0	1	0	0	0	7432	759	27	1	603	1	HSP90AB1	6	44217832	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	12121186	44217832	126897235	41	32451											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	135	0	0	0	1	0	8	135					A	45390463	G	A	45390463	2	1	83	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	1172631	45390463	125724604	42	32452											
GRIK2	2898	broad.mit.edu	37	chr6	102337618	102337618	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaataagtattttgtaccGcaagcccaatggtacaaacc	8	9	0	0	rs141189363		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:102337618G>A	ENST00000421544.1	+	11	2118	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000369138.1_Missense_Mutation_p.R543H|GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	543					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)	ATTTTGTACCGCAAGCCCAAT	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14787	0.0		0.0	False		,,,				2504	0.0					ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1627-1629)cGc>cAc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)	G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	179	174	176		1628,1628,1628	5.6	1	6	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	GRIK2	NM_001166247.1,NM_021956.4,NM_175768.3	29,29,29	0,5,6498	AA,AG,GG		0.0233,0.0681,0.0384	possibly-damaging,possibly-damaging,possibly-damaging	543/893,543/909,543/870	102337618	5,13001	2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102337618G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1628G>A	6.37:g.102337618G>A	ENSP00000397026:p.Arg543His					GRIK2_ENST00000369134.4_Missense_Mutation_p.R494H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R543H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R543H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R543H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R543H	p.R543H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	11	2118	+		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)	543					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1628G>A	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374924	0.82573	6.81E-4	2.33E-4	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	T;T;T;T;T;T;T	0.54071	2.55;2.55;2.55;0.59;2.55;2.55;2.55	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.104915	0.64402	D	0.000002	T	0.45617	0.1351	M	0.69463	2.115	0.80722	D	1	P;P;P	0.40875	0.731;0.611;0.731	B;B;B	0.37888	0.26;0.133;0.26	T	0.56025	-0.8047	10	0.66056	D	0.02	.	19.6182	0.95643	0.0:0.0:1.0:0.0	.	543;543;543	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	H	543;543;543;543;543;543;494;142	ENSP00000397026:R543H;ENSP00000405596:R543H;ENSP00000358134:R543H;ENSP00000358133:R543H;ENSP00000313276:R543H;ENSP00000358130:R494H;ENSP00000407140:R142H	ENSP00000313276:R543H	R	+	2	0	GRIK2	102444311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.626000	0.88956	0.650000	0.86243	CGC		0.468	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			7	492	0	0	0	1	0	7	492					A	102337618	G	A	102337618	3	1	83	1	0	0	0	0	1	0	0	0	6804	1087	38	1	1670	1	GRIK2	6	102337618	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	56947155	102337618	68777449	43	32453											
PTPRK	5796	broad.mit.edu	37	chr6	128306921	128306921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgataacttgactcgccGgataaaggaaagcagccctg	11	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:128306921G>A	ENST00000368215.3	-	22	3192	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	PTPRK_ENST00000368210.3_Missense_Mutation_p.R1084W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1072W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1066W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1088W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1098W|PTPRK_ENST00000368227.3_Missense_Mutation_p.R1083W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1065	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)		TTGACTCGCCGGATAAAGGAA	0.498																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3247-3249)Cgg>Tgg		protein tyrosine phosphatase, receptor type, K							164	150	154					6																	128306921		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128306921G>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3193C>T	6.37:g.128306921G>A	ENSP00000357198:p.Arg1065Trp					PTPRK_ENST00000368210.3_Missense_Mutation_p.R1084W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1072W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1065W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1066W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1098W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1088W	p.R1083W			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	23	3613	-			1065			Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3247C>T		.	.	.	.	.	.	.	.	.	.	G	24.9	4.580797	0.86748	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.94716	0.8295	H	0.94925	3.6	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;0.991;0.985	D	0.95321	0.8420	10	0.87932	D	0	.	20.0864	0.97801	0.0:0.0:1.0:0.0	.	1088;1072;1065;1066	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1066;1083;1088;1072;1084;1065;1098	ENSP00000357209:R1066W;ENSP00000357210:R1083W;ENSP00000432973:R1088W;ENSP00000357196:R1072W;ENSP00000357193:R1084W;ENSP00000357198:R1065W;ENSP00000357190:R1098W	ENSP00000357190:R1098W	R	-	1	2	PTPRK	128348614	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.548000	0.67255	2.753000	0.94483	0.650000	0.86243	CGG		0.498	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			4	162	0	0	0	1	0	4	162					A	128306921	G	A	128306921	3	1	83	1	0	0	0	0	1	0	0	0	12855	1115	39	1	1162	1	PTPRK	6	128306921	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	25969303	128306921	42808146	44	32454											
MOXD1	26002	broad.mit.edu	37	chr6	132649632	132649632	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttggggtgatagcactcGtggccggactccagaacgct	14	10	0	2	rs145443994		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:132649632G>A	ENST00000367963.3	-	5	883	c.765C>T	c.(763-765)caC>caT	p.H255H	MOXD1_ENST00000336749.3_Silent_p.H187H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	255						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)		GATAGCACTCGTGGCCGGACT	0.517																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(763-765)caC>caT		monooxygenase, DBH-like 1		G		1,4405	2.1+/-5.4	0,1,2202	169	143	152		765	-5.9	0.5	6	dbSNP_134	152	0,8600		0,0,4300	no	coding-synonymous	MOXD1	NM_015529.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		255/614	132649632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132649632G>A	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.765C>T	6.37:g.132649632G>A						MOXD1_ENST00000336749.3_Silent_p.H187H	p.H255H	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	5	883	-	Breast(56;0.0495)		255					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	ENST00000367963.3	37	c.765C>T	CCDS5152.2																																																																																				0.517	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		10	233	0	0	0	1	0	10	233					A	132649632	G	A	132649632	2	1	83	1	0	0	0	0	0	0	0	1	9761	1136	40	1		1	MOXD1	6	132649632	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4342711	132649632	38465435	45	32455											
SASH1	23328	broad.mit.edu	37	chr6	148853965	148853965	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaccactgattcctcaAccagcaaccgggaaagcgtc	9	14	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:148853965A>G	ENST00000367467.3	+	14	2072	c.1597A>G	c.(1597-1599)Acc>Gcc	p.T533A		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	533					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)		TGATTCCTCAACCAGCAACCG	0.557																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1597-1599)Acc>Gcc		SAM and SH3 domain containing 1							98	99	99					6																	148853965		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148853965A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1597A>G	6.37:g.148853965A>G	ENSP00000356437:p.Thr533Ala						p.T533A	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	14	2072	+		Ovarian(120;0.0169)	533					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.1597A>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	6.118	0.389937	0.11581	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.42131	0.98	5.27	2.89	0.33648	.	0.166954	0.56097	N	0.000035	T	0.07683	0.0193	N	0.11427	0.14	0.29013	N	0.886778	B;B	0.21309	0.054;0.004	B;B	0.20955	0.032;0.017	T	0.38735	-0.9647	10	0.17369	T	0.5	-14.7724	9.7654	0.40557	0.7217:0.0:0.2783:0.0	.	514;533	Q6P4R9;O94885	.;SASH1_HUMAN	A	533;294	ENSP00000356437:T533A	ENSP00000356437:T533A	T	+	1	0	SASH1	148895658	0.976000	0.34144	0.893000	0.35052	0.867000	0.49689	1.935000	0.40173	0.039000	0.15632	-1.139000	0.01908	ACC		0.557	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		9	304	0	0	0	1	0	9	304					G	148853965	A	G	148853965	3	3	83	1	0	0	0	0	1	0	0	0	13898	43	2	4	1651	4	SASH1	6	148853965	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	16204333	148853965	22261102	46	32456											
SYNE1	23345	broad.mit.edu	37	chr6	152457816	152457816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagagagcacactcgGtcccagcgcccattcatctg	9	16	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr6:152457816G>A	ENST00000367255.5	-	141	26197	c.25596C>T	c.(25594-25596)gaC>gaT	p.D8532D	SYNE1_ENST00000539504.1_Silent_p.D687D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Silent_p.D8484D|SYNE1_ENST00000265368.4_Silent_p.D8532D|SYNE1_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000354674.4_Silent_p.D710D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8532					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)		AGCACACTCGGTCCCAGCGCC	0.612										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25594-25596)gaC>gaT		spectrin repeat containing, nuclear envelope 1							68	63	65					6																	152457816		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152457816G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25596C>T	6.37:g.152457816G>A		HNSCC(10;0.0054)				SYNE1_ENST00000354674.4_Silent_p.D710D|SYNE1_ENST00000356820.4_Silent_p.D3056D|SYNE1_ENST00000448038.1_Silent_p.D8484D|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Silent_p.D687D|SYNE1_ENST00000265368.4_Silent_p.D8532D|SYNE1_ENST00000341594.5_Silent_p.D8144D|SYNE1_ENST00000423061.1_Silent_p.D8484D	p.D8532D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	141	26197	-		Ovarian(120;0.0955)	8532					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.25596C>T	CCDS5236.2																																																																																				0.612	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	264	0	0	0	1	0	5	264					A	152457816	G	A	152457816	2	1	83	1	0	0	0	0	0	0	0	1	15497	1252	44	2		2	SYNE1	6	152457816	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3603851	152457816	18657251	47	32457											
MIOS	54468	broad.mit.edu	37	chr7	7625382	7625382	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagctaaataacccgtatttGtgtgtcatgtttgcatttct	7	8	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:7625382G>C	ENST00000340080.4	+	7	2185	c.1764G>C	c.(1762-1764)ttG>ttC	p.L588F	MIOS_ENST00000405785.1_Missense_Mutation_p.L588F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	588						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						ACCCGTATTTGTGTGTCATGT	0.383																																						ENST00000340080.4																			0				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						c.(1762-1764)ttG>ttC		missing oocyte, meiosis regulator, homolog (Drosophila)							162	155	157					7																	7625382		1876	4107	5983	SO:0001583	missense	54468							g.chr7:7625382G>C		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.1764G>C	7.37:g.7625382G>C	ENSP00000339881:p.Leu588Phe					MIOS_ENST00000405785.1_Missense_Mutation_p.L588F	p.L588F	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			7	2185	+			588					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1764G>C	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445831	0.43429	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.58210	0.35;0.35	5.46	-5.98	0.02220	.	0.000000	0.85682	D	0.000000	T	0.52370	0.1730	L	0.55834	1.745	0.49687	D	0.999814	D	0.54964	0.969	P	0.61592	0.891	T	0.59284	-0.7483	10	0.66056	D	0.02	-7.714	4.7574	0.13092	0.2284:0.4582:0.2193:0.0941	.	588	Q9NXC5	MIO_HUMAN	F	588	ENSP00000339881:L588F;ENSP00000384088:L588F	ENSP00000339881:L588F	L	+	3	2	MIOS	7591907	0.393000	0.25237	0.113000	0.21522	0.612000	0.37316	-0.341000	0.07811	-1.651000	0.01504	-0.229000	0.12294	TTG		0.383	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		6	403	0	0	0	1	0	6	403					C	7625382	G	C	7625382	3	2	83	1	0	0	0	0	1	0	0	0	9630	1368	48	5	1778	5	MIOS	7	7625382	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		7625382	151513281	48	32458											
STK31	56164	broad.mit.edu	37	chr7	23792437	23792437	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagctaagatggaaatActgaaagaaatgaggtaggt	13	4	0	4			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:23792437A>G	ENST00000355870.3	+	9	1238	c.1119A>G	c.(1117-1119)atA>atG	p.I373M	STK31_ENST00000428484.1_Missense_Mutation_p.I350M|STK31_ENST00000433467.2_Missense_Mutation_p.I373M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.I350M	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	373						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						AGATGGAAATACTGAAAGAAA	0.333																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(1048-1050)atA>atG		serine/threonine kinase 31							67	67	67					7																	23792437		2203	4300	6503	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23792437A>G	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.1119A>G	7.37:g.23792437A>G	ENSP00000348132:p.Ile373Met					STK31_ENST00000433467.2_Missense_Mutation_p.I373M|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.I373M|STK31_ENST00000428484.1_Missense_Mutation_p.I350M	p.I350M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			9	1514	+			373					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1050A>G	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	1.604	-0.525678	0.04141	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.94	-4.71	0.03279	.	0.667143	0.15196	N	0.275271	T	0.05731	0.0150	N	0.20685	0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.36841	-0.9731	10	0.19147	T	0.46	1.7106	5.3799	0.16186	0.3532:0.2924:0.3544:0.0	.	373;373	B4DZ06;Q9BXU1	.;STK31_HUMAN	M	373;373;350;350	ENSP00000348132:I373M;ENSP00000411852:I373M;ENSP00000346660:I350M;ENSP00000406146:I350M	ENSP00000346660:I350M	I	+	3	3	STK31	23758962	0.000000	0.05858	0.002000	0.10522	0.209000	0.24338	-1.076000	0.03420	-0.604000	0.05760	-0.376000	0.06991	ATA		0.333	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		16	153	0	0	0	1	0	16	153					G	23792437	A	G	23792437	3	3	83	1	0	0	0	0	1	0	0	0	15348	381	14	4	1153	4	STK31	7	23792437	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	16167055	23792437	135346226	49	32459											
AUTS2	26053	broad.mit.edu	37	chr7	69583117	69583117	+	Splice_Site	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcttttcttttgcctttaGctcaagccaggacagaacag	7	11	3	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:69583117G>C	ENST00000342771.4	+	3	843		c.e3-1		AUTS2_ENST00000403018.2_Splice_Site|AUTS2_ENST00000406775.2_Splice_Site	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)		TTTGCCTTTAGCTCAAGCCAG	0.498																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.e3-1		autism susceptibility candidate 2							49	51	51					7																	69583117		2203	4300	6503	SO:0001630	splice_region_variant	26053							g.chr7:69583117G>C	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.523-1G>C	7.37:g.69583117G>C						AUTS2_ENST00000406775.2_Splice_Site|AUTS2_ENST00000403018.2_Splice_Site		NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	3	843	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)						A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Splice_Site	SNP	ENST00000342771.4	37		CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512937	0.85389	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2224	0.93803	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AUTS2	69221053	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.302000	0.89953	2.765000	0.95021	0.655000	0.94253	.		0.498	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		Intron	4	220	0	0	0	1	0	4	220					C	69583117	G	C	69583117	5	2	83	1	0	0	0	0	0	0	1	0	1226	985	34	5	532	5	AUTS2	7	69583117	Splice_Site	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	45790680	69583117	89555546	50	32460											
STAG3	10734	broad.mit.edu	37	chr7	99780445	99780445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgctgtgaaagccGccaaaagtgacatgcaggta	10	8	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:99780445G>A	ENST00000426455.1	+	4	726	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	107					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAAGCCGCCAAAAGTGA	0.463																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(319-321)Gcc>Acc		stromal antigen 3							242	238	239					7																	99780445		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99780445G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.319G>A	7.37:g.99780445G>A	ENSP00000400359:p.Ala107Thr					STAG3_ENST00000317296.5_Missense_Mutation_p.A107T|STAG3_ENST00000394018.2_Missense_Mutation_p.A107T	p.A107T			Q9UJ98	STAG3_HUMAN			4	726	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		107					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.319G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112214	0.77210	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.28069	1.93;1.63;1.93	5.32	5.32	0.75619	.	0.000000	0.43919	D	0.000512	T	0.52869	0.1761	M	0.68952	2.095	0.42720	D	0.993672	D;B	0.89917	1.0;0.32	D;B	0.64506	0.926;0.056	T	0.54860	-0.8230	10	0.87932	D	0	-15.4632	16.5495	0.84470	0.0:0.0:1.0:0.0	.	107;107	B4DZ10;Q9UJ98	.;STAG3_HUMAN	T	107	ENSP00000400359:A107T;ENSP00000377586:A107T;ENSP00000319318:A107T	ENSP00000319318:A107T	A	+	1	0	STAG3	99618381	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.209000	0.72171	2.773000	0.95371	0.585000	0.79938	GCC		0.463	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		6	752	0	0	0	1	0	6	752					A	99780445	G	A	99780445	3	1	83	1	0	0	0	0	1	0	0	0	15296	1087	38	1	329	1	STAG3	7	99780445	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	30197328	99780445	59358218	51	32461											
ZAN	7455	broad.mit.edu	37	chr7	100350298	100350298	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatctccacagaaaaacCcaccatccccacagaaaaac	2	18	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:100350298C>T	ENST00000348028.3	+	0	2735				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							269	312	298					7																	100350298		1882	4119	6001			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350298C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350298C>T						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2718	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	11.71	1.720754	0.30503	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62232	0.04;0.04;0.04	3.97	0.987	0.19790	.	0.553938	0.13699	N	0.368999	T	0.53158	0.1779	L	0.33485	1.01	0.09310	N	0.999996	P;B	0.44734	0.842;0.201	P;B	0.47645	0.553;0.148	T	0.44345	-0.9334	10	0.62326	D	0.03	.	5.9038	0.18982	0.0:0.6494:0.1584:0.1922	.	857;857	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	857	ENSP00000445943:P857L;ENSP00000445091:P857L;ENSP00000444427:P857L	ENSP00000423579:P857L	P	+	2	0	ZAN	100188234	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.014000	0.12656	0.065000	0.16485	-0.192000	0.12808	CCC		0.498	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		7	490	0	0	0	1	0	7	490					T	100350298	C	T	100350298	1	4	83	0	1	0	0	0	0	0	0	0	17567	623	22	2		2	ZAN	7	100350298	RNA	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	569853	100350298	58788365	52	32462											
COG5	10466	broad.mit.edu	37	chr7	107002815	107002815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attggtccagaatgaggcacGcaaagctgcagtatttcctg	11	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:107002815G>A	ENST00000347053.3	-	9	1029	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	COG5_ENST00000393603.2_Missense_Mutation_p.R327C|COG5_ENST00000297135.3_Missense_Mutation_p.R327C	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	327					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						AATGAGGCACGCAAAGCTGCA	0.398																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(979-981)Cgt>Tgt		component of oligomeric golgi complex 5							83	81	82					7																	107002815		2203	4300	6503	SO:0001583	missense	0				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107002815G>A	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.979C>T	7.37:g.107002815G>A	ENSP00000334703:p.Arg327Cys					COG5_ENST00000347053.3_Missense_Mutation_p.R327C|COG5_ENST00000297135.3_Missense_Mutation_p.R327C	p.R327C	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			9	1250	-			327					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.979C>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682211	0.68042	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.32988	1.43;1.43;1.43	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.62923	-0.6751	10	0.87932	D	0	-12.3955	8.6738	0.34167	0.0696:0.0:0.6723:0.258	.	327;327	Q9UP83;Q9UP83-2	COG5_HUMAN;.	C	327	ENSP00000334703:R327C;ENSP00000297135:R327C;ENSP00000377228:R327C	ENSP00000297135:R327C	R	-	1	0	COG5	106790051	1.000000	0.71417	0.990000	0.47175	0.616000	0.37450	5.822000	0.69265	1.540000	0.49301	0.655000	0.94253	CGT		0.398	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			4	166	0	0	0	1	0	4	166					A	107002815	G	A	107002815	3	1	83	1	0	0	0	0	1	0	0	0	3670	1087	38	1	1663	1	COG5	7	107002815	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6652517	107002815	52135848	53	32463											
CPA5	93979	broad.mit.edu	37	chr7	130008354	130008354	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatggcttcctgctgccGgccacacagatcatccccac	8	17	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:130008354G>A	ENST00000485477.1	+	12	2356	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	CPA5_ENST00000466363.2_Silent_p.P409P|CPA5_ENST00000461828.1_Silent_p.P409P|CPA5_ENST00000393213.3_Silent_p.P409P|CPA5_ENST00000431780.2_Missense_Mutation_p.R381Q|CPA5_ENST00000355388.3_Silent_p.P409P|CPA5_ENST00000474905.1_Silent_p.P409P			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	409						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCCTGCTGCCGGCCACACAGA	0.612																																						ENST00000431780.2																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1141-1143)cGg>cAg		carboxypeptidase A5							133	112	119					7																	130008354		2203	4300	6503	SO:0001819	synonymous_variant	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008354G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1227G>A	7.37:g.130008354G>A						CPA5_ENST00000485477.1_Silent_p.P409P|CPA5_ENST00000461828.1_Silent_p.P409P|CPA5_ENST00000355388.3_Silent_p.P409P|CPA5_ENST00000466363.2_Silent_p.P409P|CPA5_ENST00000393213.3_Silent_p.P409P|CPA5_ENST00000474905.1_Silent_p.P409P	p.R381Q	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN			11	1587	+	Melanoma(18;0.0435)		0					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1142G>A	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	G	0.705	-0.789176	0.02884	.	.	ENSG00000158525	ENST00000431780;ENST00000479492	T	0.12774	2.65	5.85	-11.7	0.00046	.	.	.	.	.	T	0.05777	0.0151	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31420	-0.9944	7	.	.	.	.	8.197	0.31402	0.6118:0.1479:0.1748:0.0655	.	381	G3V0G8	.	Q	381;58	ENSP00000393045:R381Q	.	R	+	2	0	CPA5	129795590	0.000000	0.05858	0.046000	0.18839	0.006000	0.05464	-3.373000	0.00493	-3.150000	0.00231	-4.470000	0.00005	CGG		0.612	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		6	419	0	0	0	1	0	6	419					A	130008354	G	A	130008354	2	1	83	1	0	0	0	0	0	0	0	1	3802	1116	39	1		1	CPA5	7	130008354	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	23005539	130008354	29130309	54	32464											
TRYX3	136541	broad.mit.edu	37	chr7	141952132	141952132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaaaacacatccatccGcaaaagacaggattccttga	5	13	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr7:141952132G>A	ENST00000552471.1	-	5	954	c.635C>T	c.(634-636)gCg>gTg	p.A212V	PRSS58_ENST00000547058.2_Missense_Mutation_p.A212V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	212	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						ACATCCATCCGCAAAAGACAG	0.403																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(634-636)gCg>gTg		protease, serine, 58							55	59	58					7																	141952132		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952132G>A		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.635C>T	7.37:g.141952132G>A	ENSP00000446916:p.Ala212Val					PRSS58_ENST00000547058.2_Missense_Mutation_p.A212V	p.A212V			Q8IYP2	PRS58_HUMAN			5	954	-			212			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.635C>T	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720505	0.68959	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	T;T	0.81247	-1.47;-1.47	5.24	1.27	0.21489	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.74839	0.3769	L	0.35793	1.09	0.09310	N	0.999998	D	0.54964	0.969	P	0.50352	0.638	T	0.64364	-0.6425	9	0.87932	D	0	.	4.4438	0.11588	0.2702:0.1636:0.5661:0.0	.	212	Q8IYP2	PRS58_HUMAN	V	212	ENSP00000447588:A212V;ENSP00000446916:A212V	ENSP00000307206:A212V	A	-	2	0	PRSS58	141598610	0.717000	0.27966	0.008000	0.14137	0.973000	0.67179	1.548000	0.36201	0.781000	0.33589	0.655000	0.94253	GCG		0.403	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		4	166	0	0	0	1	0	4	166					A	141952132	G	A	141952132	3	1	83	1	0	0	0	0	1	0	0	0	16657	1087	38	1	94	1	TRYX3	7	141952132	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	11943778	141952132	17186531	55	32465											
AMAC1L2	83650	broad.mit.edu	37	chr8	11188775	11188775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcctgcctgctggcttcGtgggccccctttctcgtatg	14	14	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:11188775G>A	ENST00000382435.4	+	1	379	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	54	EamA 1.					integral component of membrane (GO:0016021)											TGCTGGCTTCGTGGGCCCCCT	0.662																																						ENST00000382435.4																			0											c.(160-162)Gtg>Atg		solute carrier family 35, member G5							75	78	77					8																	11188775		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188775G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.160G>A	8.37:g.11188775G>A	ENSP00000371872:p.Val54Met						p.V54M	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	379	+			54			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.160G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350573	0.41599	.	.	ENSG00000177710	ENST00000382435	T	0.52057	0.68	0.34	0.34	0.15985	.	0.000000	0.40469	N	0.001093	T	0.48314	0.1493	L	0.32530	0.975	0.34820	D	0.738583	D	0.89917	1.0	D	0.72982	0.979	T	0.54070	-0.8348	10	0.33940	T	0.23	-6.0135	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	54	Q96KT7	S35G5_HUMAN	M	54	ENSP00000371872:V54M	ENSP00000371872:V54M	V	+	1	0	SLC35G5	11226185	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	1.667000	0.37471	0.426000	0.26116	0.089000	0.15464	GTG		0.662	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		5	355	0	0	0	1	0	5	355					A	11188775	G	A	11188775	3	1	83	1	0	0	0	0	1	0	0	0	560	1145	40	1	162	1	AMAC1L2	8	11188775	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		11188775	135175247	56	32466											
RP1	6101	broad.mit.edu	37	chr8	55539165	55539165	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgattttcctgaggctattgCtcatcattcaattcaaaatt	5	8	4	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:55539165C>G	ENST00000220676.1	+	4	2871	c.2723C>G	c.(2722-2724)gCt>gGt	p.A908G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	908					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)			GAGGCTATTGCTCATCATTCA	0.328																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2722-2724)gCt>gGt		retinitis pigmentosa 1 (autosomal dominant)							30	32	31					8																	55539165		2199	4295	6494	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539165C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2723C>G	8.37:g.55539165C>G	ENSP00000220676:p.Ala908Gly						p.A908G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2871	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	908						Missense_Mutation	SNP	ENST00000220676.1	37	c.2723C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838250	0.32513	.	.	ENSG00000104237	ENST00000220676	T	0.47869	0.83	5.65	4.76	0.60689	.	0.812455	0.10842	N	0.628097	T	0.35189	0.0923	L	0.29908	0.895	0.09310	N	0.999998	P	0.39282	0.666	B	0.33339	0.162	T	0.20273	-1.0280	10	0.72032	D	0.01	.	10.4038	0.44246	0.0:0.7852:0.137:0.0778	.	908	P56715	RP1_HUMAN	G	908	ENSP00000220676:A908G	ENSP00000220676:A908G	A	+	2	0	RP1	55701718	0.936000	0.31750	0.399000	0.26333	0.958000	0.62258	1.179000	0.31993	1.357000	0.45904	0.655000	0.94253	GCT		0.328	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	143	0	0	0	1	0	14	143					G	55539165	C	G	55539165	3	3	83	1	0	0	0	0	1	0	0	0	13582	797	28	5	2733	5	RP1	8	55539165	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	44350390	55539165	90824857	57	32467											
VPS13B	157680	broad.mit.edu	37	chr8	100833605	100833605	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aaactggtccataacctgacAtctccaaagtggaaagatgg	9	9	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr8:100833605A>T	ENST00000358544.2	+	50	9264	c.9153A>T	c.(9151-9153)acA>acT	p.T3051T	VPS13B_ENST00000357162.2_Silent_p.T3026T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3051					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)			ATAACCTGACATCTCCAAAGT	0.398																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(9151-9153)acA>acT		vacuolar protein sorting 13 homolog B (yeast)							212	200	204					8																	100833605		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100833605A>T	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.9153A>T	8.37:g.100833605A>T						VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.T3026T	p.T3051T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		50	9264	+	Breast(36;3.73e-07)		3051					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.9153A>T	CCDS6280.1																																																																																				0.398	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		5	355	0	0	0	1	0	5	355					T	100833605	A	T	100833605	2	4	83	1	0	0	0	0	0	0	0	1	17244	204	8	5		5	VPS13B	8	100833605	Silent	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	45294440	100833605	45530417	58	32468											
MLLT3	4300	broad.mit.edu	37	chr9	20414337	20414337	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctactgctgctgctgct	12	14	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:20414337G>A	ENST00000380338.4	-	5	793	c.507C>T	c.(505-507)agC>agT	p.S169S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	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)		tgctgctgctgctgctactgc	0.542			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(505-507)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9	16	14					9																	20414337		1704	3497	5201	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414337G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.507C>T	9.37:g.20414337G>A						MLLT3_ENST00000429426.2_Silent_p.S166S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S169S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	793	-			169			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.507C>T	CCDS6494.1																																																																																				0.542	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	180	0	0	0	1	0	5	180					A	20414337	G	A	20414337	2	1	83	1	0	0	0	0	0	0	0	1	9669	1310	46	2		2	MLLT3	9	20414337	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		20414337	120799094	59	32469											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		6	420	0	0	0	1	0	6	420					T	70871889	C	T	70871889	2	4	83	1	0	0	0	0	0	0	0	1	2721	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	50457552	70871889	70341542	60	32470											
OSTF1	26578	broad.mit.edu	37	chr9	77752511	77752511	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagggttatgcagatatcGtccagttgcttctggcaaaa	12	7	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:77752511G>A	ENST00000346234.6	+	8	616	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	156					ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						TGCAGATATCGTCCAGTTGCT	0.398																																						ENST00000346234.6																			0				endometrium(1)|skin(1)	2						c.(466-468)Gtc>Atc		osteoclast stimulating factor 1							176	150	159					9																	77752511		2203	4300	6503	SO:0001583	missense	26578				ossification|signal transduction	cytoplasm	identical protein binding	g.chr9:77752511G>A	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.466G>A	9.37:g.77752511G>A	ENSP00000340836:p.Val156Ile						p.V156I	NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN			8	616	+			156					Q5W126|Q96IJ4	Missense_Mutation	SNP	ENST00000346234.6	37	c.466G>A	CCDS6651.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878070	0.91664	.	.	ENSG00000134996	ENST00000346234	T	0.71698	-0.59	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	1.0;0.959	D;P	0.78314	0.991;0.893	T	0.77313	-0.2634	10	0.45353	T	0.12	-17.9865	18.188	0.89798	0.0:0.0:1.0:0.0	.	156;156	A8K646;Q92882	.;OSTF1_HUMAN	I	156	ENSP00000340836:V156I	ENSP00000340836:V156I	V	+	1	0	OSTF1	76942331	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.757000	0.91657	2.585000	0.87301	0.563000	0.77884	GTC		0.398	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052704.1	NM_012383		20	199	0	0	0	1	0	20	199					A	77752511	G	A	77752511	3	1	83	1	0	0	0	0	1	0	0	0	11339	1145	40	1	496	1	OSTF1	9	77752511	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6880622	77752511	63460920	61	32471											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	784						7	784	---	---	---	---	-	94172779	T	-	94172779	7	5	83	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-IB-A5SO-01A-11D-A32N-08	16420268	94172779	47040652	62	32472											
TGFBR1	7046	broad.mit.edu	37	chr9	101900330	101900330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcaaactgtaatgttacGtcatgaaaacatcctgggat	7	7	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:101900330G>A	ENST00000374994.4	+	4	881	c.764G>A	c.(763-765)cGt>cAt	p.R255H	TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|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)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.R255L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378																																						ENST00000374994.4																			1	Substitution - Missense(1)	p.R255L(1)	prostate(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(763-765)cGt>cAt		transforming growth factor, beta receptor 1							138	136	137					9																	101900330		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900330G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.764G>A	9.37:g.101900330G>A	ENSP00000364133:p.Arg255His					TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259H|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178H	p.R255H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			4	881	+		Acute lymphoblastic leukemia(62;0.0559)	255			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.764G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510468	0.85389	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	5.36	5.36	0.76844	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	0.95993	0.8695	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95388	0.8479	9	.	.	.	.	17.8646	0.88792	0.0:0.0:1.0:0.0	.	178;255	P36897-3;P36897	.;TGFR1_HUMAN	H	255;255;178;259;109;186	ENSP00000364133:R255H;ENSP00000364129:R178H;ENSP00000447297:R259H;ENSP00000449028:R109H;ENSP00000450052:R186H	.	R	+	2	0	TGFBR1	100940151	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.810000	0.99221	2.530000	0.85305	0.655000	0.94253	CGT		0.378	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			6	300	0	0	0	1	0	6	300					A	101900330	G	A	101900330	3	1	83	1	0	0	0	0	1	0	0	0	15873	1145	40	1	778	1	TGFBR1	9	101900330	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	7727551	101900330	39313101	63	32473											
OR13D1	286365	broad.mit.edu	37	chr9	107456958	107456958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcaccatcttggattctCgcctccatactcccatgtat	4	15	4	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:107456958C>T	ENST00000318763.5	+	1	299	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTTGGATTCTCGCCTCCATAC	0.423																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(256-258)Cgc>Tgc		olfactory receptor, family 13, subfamily D, member 1							239	240	240					9																	107456958		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456958C>T		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.256C>T	9.37:g.107456958C>T	ENSP00000317357:p.Arg86Cys						p.R86C	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	299	+			86					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.256C>T	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	1.682	-0.506177	0.04231	.	.	ENSG00000179055	ENST00000318763	T	0.00588	6.37	3.75	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.261494	0.27526	N	0.018973	T	0.00754	0.0025	M	0.74258	2.255	0.09310	N	1	B	0.33919	0.432	B	0.32724	0.151	T	0.46373	-0.9196	10	0.56958	D	0.05	.	4.236	0.10625	0.2246:0.6517:0.0:0.1237	.	86	Q8NGV5	O13D1_HUMAN	C	86	ENSP00000317357:R86C	ENSP00000317357:R86C	R	+	1	0	OR13D1	106496779	0.000000	0.05858	0.052000	0.19188	0.014000	0.08584	-1.829000	0.01701	0.237000	0.21200	0.609000	0.83330	CGC		0.423	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			7	755	0	0	0	1	0	7	755					T	107456958	C	T	107456958	3	4	83	1	0	0	0	0	1	0	0	0	10982	884	31	1	258	1	OR13D1	9	107456958	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5556628	107456958	33756473	64	32474											
ACTL7B	10880	broad.mit.edu	37	chr9	111617095	111617095	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcttcctctcaggagcGgcagccactgcagggctgtc	14	13	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:111617095G>A	ENST00000374667.3	-	1	2144	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	372						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCAGGAGCGGCAGCCACTG	0.647																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1114-1116)gcC>gcT		actin-like 7B							26	33	31					9																	111617095		2151	4208	6359	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617095G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1116C>T	9.37:g.111617095G>A							p.A372A	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2144	-			372					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.1116C>T	CCDS6771.1																																																																																				0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		4	238	0	0	0	1	0	4	238					A	111617095	G	A	111617095	2	1	83	1	0	0	0	0	0	0	0	1	201	1103	39	1		1	ACTL7B	9	111617095	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4160137	111617095	29596336	65	32475											
FBXW5	54461	broad.mit.edu	37	chr9	139835466	139835466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatggtgcgtggggagcGccaggctttgatggtggcgt	20	8	0	1	rs368494470		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139835466G>A	ENST00000325285.3	-	9	1694	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	539					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)	p.R539C(1)		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)		CGTGGGGAGCGCCAGGCTTTG	0.672																																						ENST00000325285.3																			1	Substitution - Missense(1)	p.R539C(1)	endometrium(1)	breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(1615-1617)Cgc>Tgc		F-box and WD repeat domain containing 5		G	CYS/ARG	0,4292		0,0,2146	69	61	64		1615	4.6	1	9		64	1,8449		0,1,4224	no	missense	FBXW5	NM_018998.2	180	0,1,6370	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	539/567	139835466	1,12741	2146	4225	6371	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139835466G>A	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.1615C>T	9.37:g.139835466G>A	ENSP00000313034:p.Arg539Cys					FBXW5_ENST00000483559.1_5'UTR	p.R539C	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	9	1694	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	539					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.1615C>T	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674100	0.88445	0.0	1.18E-4	ENSG00000159069	ENST00000325285	T	0.67345	-0.26	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.063203	0.64402	D	0.000004	T	0.80808	0.4694	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.981	D	0.83522	0.0086	10	0.72032	D	0.01	-0.5139	16.0315	0.80582	0.0:0.0:1.0:0.0	.	404;539	Q59ET5;Q969U6	.;FBXW5_HUMAN	C	539	ENSP00000313034:R539C	ENSP00000313034:R539C	R	-	1	0	FBXW5	138955287	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.184000	0.77705	2.126000	0.65437	0.561000	0.74099	CGC		0.672	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		3	15	0	0	0	1	0	3	15					A	139835466	G	A	139835466	3	1	83	1	0	0	0	0	1	0	0	0	5793	1087	38	1	89	1	FBXW5	9	139835466	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	28218371	139835466	1377965	66	32476											
ABCA2	20	broad.mit.edu	37	chr9	139908435	139908435	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcaccttcagccacccGccgtccagcttgcggctgcc	11	19	1	0	rs377594797		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr9:139908435G>A	ENST00000371605.3	-	27	4440	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	ABCA2_ENST00000341511.6_Silent_p.G1432G|ABCA2_ENST00000265662.5_Silent_p.G1432G			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1431					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)		TCAGCCACCCGCCGTCCAGCT	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12959	0.0		0.0	False		,,,				2504	0.0					ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(4294-4296)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 2		G	,	2,4166		0,2,2082	32	41	38		4296,4386	4.7	1	9		38	0,8396		0,0,4198	no	coding-synonymous,coding-synonymous	ABCA2	NM_001606.4,NM_212533.2	,	0,2,6280	AA,AG,GG		0.0,0.048,0.0159	,	1432/2437,1462/2467	139908435	2,12562	2084	4198	6282	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139908435G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4293C>T	9.37:g.139908435G>A						ABCA2_ENST00000371605.3_Silent_p.G1431G|ABCA2_ENST00000341511.6_Silent_p.G1432G	p.G1432G			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	28	4443	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1431					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4296C>T																																																																																					0.657	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		9	216	0	0	0	1	0	9	216					A	139908435	G	A	139908435	2	1	83	1	0	0	0	0	0	0	0	1	32	1074	38	1		1	ABCA2	9	139908435	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	72969	139908435	1304996	67	32477											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431019	37431019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagggaaattatgagtccCgcaaaagaaacatctgagaa	9	8	1	3	rs199969776		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:37431019C>T	ENST00000602533.1	+	7	1125	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	ANKRD30A_ENST00000361713.1_Silent_p.P342P|ANKRD30A_ENST00000374660.1_Silent_p.P342P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	398					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						TTATGAGTCCCGCAAAAGAAA	0.433																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1024-1026)ccC>ccT		ankyrin repeat domain 30A							107	105	106					10																	37431019		1830	4085	5915	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431019C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1026C>T	10.37:g.37431019C>T						ANKRD30A_ENST00000602533.1_Silent_p.P342P|ANKRD30A_ENST00000361713.1_Silent_p.P342P	p.P342P			Q9BXX3	AN30A_HUMAN			7	1125	+			398					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1026C>T																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	337	0	0	0	1	0	5	337					T	37431019	C	T	37431019	2	4	83	1	0	0	0	0	0	0	0	1	658	639	23	1		1	ANKRD30A	10	37431019	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		37431019	98103728	68	32478											
RTKN2	219790	broad.mit.edu	37	chr10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T													ctgcccatttgtctcttcaaINStttttttttgtattatatcc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		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)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	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.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	243						7	243	---	---	---	---	T	63958149	-	T	63958148	7	5	83	1	0	1	1	0	0	0	0	0	13773	101	4	0	484	0	RTKN2	10	63958148	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	26527129	63958148	71576599	69	32479											
PRF1	5551	broad.mit.edu	37	chr10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-													aaggaggccgtcatcttgtgCttcttcttcttctcctcaca							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)aagdel	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.		Missing (in FHL2). {ECO:0000269|PubMed:11179007}.		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						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"various leukaemia, lymphoma"			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CD011186|CD080892	PRF1	D		c.(853-855)del		perforin 1 (pore forming protein)																																				SO:0001651	inframe_deletion	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358622_72358624delCTT	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.853_855delAAG	10.37:g.72358631_72358633delCTT	ENSP00000398568:p.Lys285del					PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	1013_1015	-			285		Missing (in FHL2).	MACPF.		B2R6X4|Q59F57|Q86WX7	In_Frame_Del	DEL	ENST00000441259.1	37	c.853_855delAAG	CCDS7305.1																																																																																				0.591	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		7	365						7	365	---	---	---	---	-	72358624	CTT	-	72358622	7	5	83	1	0	1	0	1	0	0	0	0	12525	796	28	0	816	0	PRF1	10	72358622	In_Frame_Del	DEL	CTT	TCGA-IB-A5SO-01A-11D-A32N-08	8400474	72358622	63176125	70	32480											
MYST4	23522	broad.mit.edu	37	chr10	76735263	76735263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcatctggtcatgctGcatctgggaaggactcaagc	10	12	5	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:76735263G>A	ENST00000287239.4	+	8	1657	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	KAT6B_ENST00000372711.1_Missense_Mutation_p.A390T|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	390	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGGTCATGCTGCATCTGGGAA	0.522																																						ENST00000287239.4																			0											c.(1168-1170)Gca>Aca		K(lysine) acetyltransferase 6B							115	102	106					10																	76735263		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735263G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1168G>A	10.37:g.76735263G>A	ENSP00000287239:p.Ala390Thr					KAT6B_ENST00000372711.1_Missense_Mutation_p.A390T|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372714.1_Intron	p.A390T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	1657	+			390			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1168G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259685	0.39995	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.77620	-1.11;-1.11	5.73	5.73	0.89815	.	0.000000	0.46758	D	0.000280	T	0.81688	0.4875	L	0.29908	0.895	0.33513	D	0.591426	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.83257	-0.0050	9	.	.	.	-8.6299	18.0612	0.89378	0.0:0.0:1.0:0.0	.	390;390	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	T	390	ENSP00000287239:A390T;ENSP00000361796:A390T	.	A	+	1	0	KAT6B	76405269	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.219000	0.78000	2.716000	0.92895	0.655000	0.94253	GCA		0.522	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		6	268	0	0	0	1	0	6	268					A	76735263	G	A	76735263	3	1	83	1	0	0	0	0	1	0	0	0	10146	1319	46	2	1190	2	MYST4	10	76735263	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4376641	76735263	58799484	71	32481											
C10orf2	56652	broad.mit.edu	37	chr10	102748967	102748967	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacgatgcttcttggtgCgaccaggagaccagcaaccc	10	14	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:102748967C>T	ENST00000311916.2	+	1	1185	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000370228.1_Nonsense_Mutation_p.R334*|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000318364.8_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	334			R -> P (in PEOA3). {ECO:0000269|PubMed:18575922}.|R -> Q (in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; dbSNP:rs28937887). {ECO:0000269|PubMed:12707443, ECO:0000269|PubMed:12872260, ECO:0000269|PubMed:20479361}.		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)		CTTCTTGGTGCGACCAGGAGA	0.572																																						ENST00000370228.1																			0				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						c.(1000-1002)Cga>Tga		chromosome 10 open reading frame 2							61	59	60					10																	102748967		2203	4300	6503	SO:0001587	stop_gained	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102748967C>T	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.1000C>T	10.37:g.102748967C>T	ENSP00000309595:p.Arg334*					C10orf2_ENST00000311916.2_Nonsense_Mutation_p.R334*|C10orf2_ENST00000473656.1_Intron	p.R334*	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	1	1185	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	334		R -> P (in PEOA3).|R -> Q (in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; dbSNP:rs28937887).			B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Nonsense_Mutation	SNP	ENST00000311916.2	37	c.1000C>T	CCDS7506.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.269486	0.80469	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	.	.	.	5.9	2.63	0.31362	.	0.176895	0.49916	D	0.000131	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1322	10.4927	0.44760	0.2696:0.6067:0.1237:0.0	.	.	.	.	X	334	.	ENSP00000309595:R334X	R	+	1	2	C10orf2	102738957	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	2.501000	0.45389	1.443000	0.47586	0.457000	0.33378	CGA		0.572	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		23	282	0	0	0	1	0	23	282					T	102748967	C	T	102748967	4	4	83	1	0	0	0	0	0	1	0	0	1602	760	27	1	1002	1	C10orf2	10	102748967	Nonsense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	26013704	102748967	32785780	72	32482											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000224807.5_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000393459.1_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		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)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	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						c.(166-168)gcfs		PDZ domain containing 7							49	58	55					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	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.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		7	659						7	659	---	---	---	---	-	102789811	G	-	102789811	7	5	83	1	0	1	0	1	0	0	0	0	11746	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-IB-A5SO-01A-11D-A32N-08	40844	102789811	32744936	73	32483											
GRK5	2869	broad.mit.edu	37	chr10	121189900	121189900	+	Frame_Shift_Del	DEL	A	A	-													cttccaggcaaccggtgaccAaaaacactttcaggcagtat							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:121189900delA	ENST00000392870.2	+	7	876	c.547delA	c.(547-549)aaafs	p.K183fs	GRK5_ENST00000369108.3_Frame_Shift_Del_p.K78fs	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	183	N-terminal.				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)		ACCGGTGACCAAAAACACTTT	0.483																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(547-549)aafs		G protein-coupled receptor kinase 5							146	143	144					10																	121189900		2203	4300	6503	SO:0001589	frameshift_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121189900delA	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.547delA	10.37:g.121189900delA	ENSP00000376609:p.Lys183fs					GRK5_ENST00000369108.3_Frame_Shift_Del_p.K78fs	p.K183fs	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	7	876	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	183			N-terminal.		D3DRD0|Q5T059	Frame_Shift_Del	DEL	ENST00000392870.2	37	c.547delA	CCDS7612.1																																																																																				0.483	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		7	612						7	612	---	---	---	---	-	121189900	A	-	121189900	7	5	83	1	0	1	0	1	0	0	0	0	6822	131	5	0	573	0	GRK5	10	121189900	Frame_Shift_Del	DEL	A	TCGA-IB-A5SO-01A-11D-A32N-08	18400089	121189900	14344847	74	32484											
TACC2	10579	broad.mit.edu	37	chr10	124009109	124009109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaggcccagcaggagcaagCcgcccaccaggccagcctgc	12	18	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr10:124009109C>T	ENST00000369005.1	+	22	9051	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	TACC2_ENST00000334433.3_Missense_Mutation_p.A2904V|TACC2_ENST00000360561.3_Missense_Mutation_p.A952V|TACC2_ENST00000369001.1_Missense_Mutation_p.A531V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2831V|TACC2_ENST00000368999.1_Missense_Mutation_p.A994V|TACC2_ENST00000513429.1_Missense_Mutation_p.A1050V|TACC2_ENST00000369004.3_Missense_Mutation_p.A964V|TACC2_ENST00000369000.1_Missense_Mutation_p.A527V|TACC2_ENST00000515603.1_Missense_Mutation_p.A2782V|TACC2_ENST00000260733.3_Missense_Mutation_p.A982V|TACC2_ENST00000515273.1_Missense_Mutation_p.A2831V|TACC2_ENST00000358010.1_Missense_Mutation_p.A1050V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2904					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)				CAGGAGCAAGCCGCCCACCAG	0.607																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(8710-8712)gCc>gTc		transforming, acidic coiled-coil containing protein 2							32	32	32					10																	124009109		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:124009109C>T	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.8711C>T	10.37:g.124009109C>T	ENSP00000358001:p.Ala2904Val					TACC2_ENST00000358010.1_Missense_Mutation_p.A1050V|TACC2_ENST00000453444.2_Missense_Mutation_p.A2831V|TACC2_ENST00000369004.3_Missense_Mutation_p.A964V|TACC2_ENST00000515603.1_Missense_Mutation_p.A2782V|TACC2_ENST00000369001.1_Missense_Mutation_p.A531V|TACC2_ENST00000360561.3_Missense_Mutation_p.A952V|TACC2_ENST00000369000.1_Missense_Mutation_p.A527V|TACC2_ENST00000334433.3_Missense_Mutation_p.A2904V|TACC2_ENST00000515273.1_Missense_Mutation_p.A2831V|TACC2_ENST00000368999.1_Missense_Mutation_p.A994V|TACC2_ENST00000260733.3_Missense_Mutation_p.A982V|TACC2_ENST00000513429.1_Missense_Mutation_p.A1050V	p.A2904V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			22	9051	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2904					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.8711C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577564	0.65878	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.16	4.26	0.50523	.	0.000000	0.36703	N	0.002443	T	0.40956	0.1138	N	0.10809	0.05	0.44149	D	0.996949	P;D;P;D;P;B;B;B;P	0.76494	0.857;0.999;0.914;0.987;0.537;0.357;0.383;0.357;0.841	P;D;D;D;B;B;B;B;P	0.76071	0.9;0.987;0.944;0.979;0.219;0.236;0.32;0.155;0.863	T	0.29579	-1.0007	10	0.30854	T	0.27	-14.0135	10.1968	0.43060	0.0:0.8479:0.0:0.1521	.	2831;964;2782;2831;952;982;527;1050;2904	E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	V	2904;1050;2831;2782;2904;1050;2831;2817;531;527;952;994;964;982	ENSP00000358001:A2904V;ENSP00000425062:A1050V;ENSP00000424467:A2831V;ENSP00000427618:A2782V;ENSP00000334280:A2904V;ENSP00000350701:A1050V;ENSP00000395048:A2831V;ENSP00000357997:A531V;ENSP00000357996:A527V;ENSP00000353763:A952V;ENSP00000357995:A994V;ENSP00000422815:A964V;ENSP00000260733:A982V	ENSP00000260733:A982V	A	+	2	0	TACC2	123999099	0.884000	0.30299	0.893000	0.35052	0.906000	0.53458	1.703000	0.37846	1.322000	0.45245	-0.136000	0.14681	GCC		0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	162	0	0	0	1	0	4	162					T	124009109	C	T	124009109	3	4	83	1	0	0	0	0	1	0	0	0	15554	739	26	2	8865	2	TACC2	10	124009109	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	2819209	124009109	11525638	75	32485											
EPS8L2	64787	broad.mit.edu	37	chr11	722406	722406	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctcactgtgccccagatcgtCaacacctgcagtggcccaga	9	16	2	2	rs146372566		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:722406C>T	ENST00000533256.1	+	14	1440	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	EPS8L2_ENST00000318562.8_Silent_p.V355V|EPS8L2_ENST00000530636.1_Silent_p.V355V|EPS8L2_ENST00000526198.1_Silent_p.V371V|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	355					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGATCGTCAACACCTGCA	0.657																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1063-1065)gtC>gtT		EPS8-like 2				1,4405	2.1+/-5.4	0,1,2202	82	73	76		1065	1	1	11	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	EPS8L2	NM_022772.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		355/716	722406	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64787					cytoplasm		g.chr11:722406C>T	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1065C>T	11.37:g.722406C>T						EPS8L2_ENST00000526198.1_Silent_p.V371V|EPS8L2_ENST00000318562.8_Silent_p.V355V|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.V355V	p.V355V			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1440	+		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)	355					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Silent	SNP	ENST00000533256.1	37	c.1065C>T	CCDS31328.1																																																																																				0.657	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		19	227	0	0	0	1	0	19	227					T	722406	C	T	722406	2	4	83	1	0	0	0	0	0	0	0	1	5214	813	29	2		2	EPS8L2	11	722406	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		722406	134284110	76	32486											
APBB1	322	broad.mit.edu	37	chr11	6422650	6422651	+	Frame_Shift_Del	DEL	CG	CG	-													gcagcgggcattacgccgttCggccatgatctgaggaagga					rs34466697	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:6422650_6422651delCG	ENST00000609360.1	-	11	1611_1612	c.1512_1513delCG	c.(1510-1515)gccgaafs	p.E505fs	APBB1_ENST00000389906.2_Frame_Shift_Del_p.E505fs|APBB1_ENST00000609331.1_Frame_Shift_Del_p.E270fs|APBB1_ENST00000530885.1_Frame_Shift_Del_p.E283fs|APBB1_ENST00000299402.6_Frame_Shift_Del_p.E503fs|APBB1_ENST00000608645.1_Frame_Shift_Del_p.E246fs|APBB1_ENST00000311051.3_Frame_Shift_Del_p.E503fs|APBB1_ENST00000608394.1_Frame_Shift_Del_p.E246fs|APBB1_ENST00000608655.1_Frame_Shift_Del_p.E285fs|APBB1_ENST00000529519.1_Frame_Shift_Del_p.E30fs|APBB1_ENST00000608704.1_Frame_Shift_Del_p.E246fs	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	505	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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)	p.A502A(1)		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)		TTACGCCGTTCGGCCATGATCT	0.574																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - coding silent(1)	p.A502A(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1510-1515)gcaafs		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)																																				SO:0001589	frameshift_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422650_6422651delCG	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.1512_1513delCG	11.37:g.6422650_6422651delCG	ENSP00000477213:p.Glu505fs					APBB1_ENST00000530885.1_Frame_Shift_Del_p.AE282fs|APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000299402.6_Frame_Shift_Del_p.AE502fs|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Frame_Shift_Del_p.AE502fs	p.AE504fs	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	10	1611_1612	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	504			PID 1.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Frame_Shift_Del	DEL	ENST00000609360.1	37	c.1512_1513delCG																																																																																					0.574	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		12	226						12	226	---	---	---	---	-	6422651	CG	-	6422650	7	5	83	1	0	1	0	1	0	0	0	0	759	893	31	0	639	0	APBB1	11	6422650	Frame_Shift_Del	DEL	CG	TCGA-IB-A5SO-01A-11D-A32N-08	5700244	6422650	128583866	77	32487											
PTPN5	84867	broad.mit.edu	37	chr11	18754215	18754215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcaacaccgtcgtacGccacctgctcctccggccaa	7	18	1	1	rs367543224		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:18754215G>A	ENST00000358540.2	-	12	1683	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|PTPN5_ENST00000396166.3_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.A418V|PTPN5_ENST00000396170.1_Missense_Mutation_p.A386V	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	418	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACCGTCGTACGCCACCTGCTC	0.572											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396170.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						c.(1156-1158)gCg>gTg		protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)							140	126	131					11																	18754215		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18754215G>A	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1253C>T	11.37:g.18754215G>A	ENSP00000351342:p.Ala418Val		OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	728	RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.A394V|PTPN5_ENST00000477854.1_Missense_Mutation_p.A222V|PTPN5_ENST00000396171.4_Missense_Mutation_p.A418V|PTPN5_ENST00000358540.2_Missense_Mutation_p.A418V|PTPN5_ENST00000396167.2_Missense_Mutation_p.A386V	p.A386V	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN			12	2421	-			418			Tyrosine-protein phosphatase.		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.1157C>T	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	g	6.138	0.393746	0.11638	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.55	3.19	0.36642	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.490245	0.20026	N	0.100810	T	0.56819	0.2011	N	0.04746	-0.17	0.21416	N	0.999693	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47446	-0.9117	10	0.02654	T	1	.	4.3729	0.11256	0.6621:0.0:0.1925:0.1454	.	418;386	P54829;B3KXG7	PTN5_HUMAN;.	V	222;418;386;418;386;394	ENSP00000435056:A222V;ENSP00000351342:A418V;ENSP00000379473:A386V;ENSP00000379474:A418V;ENSP00000379470:A386V;ENSP00000379471:A394V	ENSP00000351342:A418V	A	-	2	0	PTPN5	18710791	0.453000	0.25721	0.545000	0.28153	0.995000	0.86356	1.154000	0.31688	0.372000	0.24591	-0.285000	0.09966	GCG		0.572	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		24	415	0	0	0	1	0	24	415					A	18754215	G	A	18754215	3	1	83	1	0	0	0	0	1	0	0	0	12841	1087	38	1	460	1	PTPN5	11	18754215	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	12331565	18754215	116252301	78	32488											
SLC5A12	159963	broad.mit.edu	37	chr11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccttgaatgagaaccGttaagaagcccacaatcatg	8	9	1	4			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	198					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGAGAACCGTTAAGAAGCC	0.403																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(592-594)aCg>aTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							235	215	222					11																	26725427		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725427G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.593C>T	11.37:g.26725427G>A	ENSP00000379326:p.Thr198Met					SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	902	-			198					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.593C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161956	0.78226	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.16	5.16	0.70880	.	0.058040	0.64402	D	0.000003	D	0.91212	0.7231	L	0.46670	1.46	0.39532	D	0.968674	D;D	0.69078	0.978;0.997	P;D	0.67725	0.707;0.953	D	0.92534	0.6036	10	0.72032	D	0.01	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	198;198	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	198;198;10	ENSP00000379326:T198M;ENSP00000280467:T198M;ENSP00000435053:T10M	ENSP00000280467:T198M	T	-	2	0	SLC5A12	26682003	1.000000	0.71417	0.936000	0.37596	0.978000	0.69477	7.957000	0.87870	2.412000	0.81896	0.484000	0.47621	ACG		0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		6	528	0	0	0	1	0	6	528					A	26725427	G	A	26725427	3	1	83	1	0	0	0	0	1	0	0	0	14714	1145	40	1	1307	1	SLC5A12	11	26725427	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	7971212	26725427	108281089	79	32489											
FOSL1	8061	broad.mit.edu	37	chr11	65661489	65661489	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagggctggtgctcaccgccTgcaggaagtcggtcagttcc	14	13	2	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:65661489T>A	ENST00000312562.2	-	3	587	c.401A>T	c.(400-402)cAg>cTg	p.Q134L	FOSL1_ENST00000532401.1_Silent_p.A132A|FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000531493.1_Intron	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	134	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GCTCACCGCCTGCAGGAAGTC	0.657																																						ENST00000312562.2																			0				breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(400-402)cAg>cTg		FOS-like antigen 1							35	30	31					11																	65661489		2200	4295	6495	SO:0001583	missense	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65661489T>A	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"basic leucine zipper proteins"	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.401A>T	11.37:g.65661489T>A	ENSP00000310170:p.Gln134Leu					FOSL1_ENST00000532401.1_Silent_p.A132A|FOSL1_ENST00000531493.1_Intron|FOSL1_ENST00000448083.2_Intron	p.Q134L	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	3	587	-			134			Leucine-zipper.		B4DR11|Q6FG51	Missense_Mutation	SNP	ENST00000312562.2	37	c.401A>T	CCDS8121.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791078	0.90367	.	.	ENSG00000175592	ENST00000312562	T	0.56444	0.46	4.26	4.26	0.50523	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.120965	0.56097	D	0.000025	T	0.69278	0.3093	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.73512	-0.3959	10	0.87932	D	0	-19.5225	11.6688	0.51389	0.0:0.0:0.0:1.0	.	134	P15407	FOSL1_HUMAN	L	134	ENSP00000310170:Q134L	ENSP00000310170:Q134L	Q	-	2	0	FOSL1	65418065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.533000	0.81994	1.931000	0.55961	0.528000	0.53228	CAG		0.657	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		3	38	0	0	0	1	0	3	38					A	65661489	T	A	65661489	3	1	83	1	0	0	0	0	1	0	0	0	6012	1580	55	5	422	5	FOSL1	11	65661489	Missense_Mutation	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	38936062	65661489	69345027	80	32490											
KLC2	64837	broad.mit.edu	37	chr11	66029444	66029444	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagacgcctcccctaacGtgagctcctaccatggtcac	8	15	1	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:66029444G>A	ENST00000417856.1	+	3	702		c.e3+1		RP11-867G23.1_ENST00000530805.1_RNA|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394065.2_Splice_Site|KLC2_ENST00000316924.5_Splice_Site|KLC2_ENST00000394067.2_Splice_Site|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394078.1_Splice_Site	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2						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)	p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCCCCTAACGTGAGCTCCTA	0.632																																						ENST00000394065.2																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.e1+1		kinesin light chain 2							64	48	53					11																	66029444		2200	4295	6495	SO:0001630	splice_region_variant	64837				blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr11:66029444G>A	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.459+1G>A	11.37:g.66029444G>A						KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Splice_Site|KLC2_ENST00000316924.5_Splice_Site|KLC2_ENST00000421552.1_Intron|KLC2_ENST00000417856.1_Splice_Site|KLC2_ENST00000394078.1_Splice_Site				Q9H0B6	KLC2_HUMAN			1	1060	+								A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Splice_Site	SNP	ENST00000417856.1	37		CCDS8130.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461432	0.43736	.	.	ENSG00000174996	ENST00000417856;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757;ENST00000394065	.	.	.	4.15	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7987	0.46476	0.0:0.1934:0.8066:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLC2	65786020	0.352000	0.24895	0.715000	0.30552	0.343000	0.28985	2.337000	0.43947	0.897000	0.36392	0.561000	0.74099	.		0.632	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	NM_022822	Intron	4	132	0	0	0	1	0	4	132					A	66029444	G	A	66029444	5	1	83	1	0	0	0	0	0	0	1	0	8364	1159	40	1	466	1	KLC2	11	66029444	Splice_Site	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	367955	66029444	68977072	81	32491											
FAT3	120114	broad.mit.edu	37	chr11	92523233	92523233	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagattgaagccacagataGagatgagaagcacaagctga	12	7	0	6			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:92523233G>A	ENST00000298047.6	+	7	4477	c.4460G>A	c.(4459-4461)aGa>aAa	p.R1487K	FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K|FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1487	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCACAGATAGAGATGAGAAG	0.473										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4459-4461)aGa>aAa		FAT atypical cadherin 3							188	182	184					11																	92523233		2084	4228	6312	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523233G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4460G>A	11.37:g.92523233G>A	ENSP00000298047:p.Arg1487Lys	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.R1487K|FAT3_ENST00000525166.1_Missense_Mutation_p.R1337K	p.R1487K			Q8TDW7	FAT3_HUMAN			7	4477	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1487			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4460G>A		.	.	.	.	.	.	.	.	.	.	G	12.62	1.991286	0.35131	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01685	4.69;4.69;4.69	6.17	5.27	0.74061	.	.	.	.	.	T	0.01189	0.0039	N	0.11927	0.2	0.80722	D	1	B	0.21753	0.06	B	0.19666	0.026	T	0.41893	-0.9483	9	0.02654	T	1	.	11.64	0.51227	0.1347:0.0:0.8653:0.0	.	1487	Q8TDW7-3	.	K	1487;1487;1337	ENSP00000298047:R1487K;ENSP00000387040:R1487K;ENSP00000432586:R1337K	ENSP00000298047:R1487K	R	+	2	0	FAT3	92162881	1.000000	0.71417	0.562000	0.28370	0.866000	0.49608	4.904000	0.63279	1.636000	0.50526	0.655000	0.94253	AGA		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		40	403	0	0	0	1	0	40	403					A	92523233	G	A	92523233	3	1	83	1	0	0	0	0	1	0	0	0	5716	942	33	2	4486	2	FAT3	11	92523233	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26493789	92523233	42483283	82	32492											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000264020.2_In_Frame_Del_p.D92del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	323						7	323	---	---	---	---	-	118427685	ATC	-	118427683	7	5	83	1	0	1	0	1	0	0	0	0	7590	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-IB-A5SO-01A-11D-A32N-08	25904450	118427683	16578833	83	32493											
ADAMTS15	170689	broad.mit.edu	37	chr11	130319167	130319167	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcttcagacctgcgacGctgcttctattctggggacg	13	12	4	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr11:130319167G>A	ENST00000299164.2	+	1	299	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	100						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)		GACCTGCGACGCTGCTTCTAT	0.677																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(298-300)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							41	49	46					11																	130319167		2198	4295	6493	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130319167G>A	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.299G>A	11.37:g.130319167G>A	ENSP00000299164:p.Arg100His						p.R100H	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	1	299	+	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)	100					Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.299G>A	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158526	0.21454	.	.	ENSG00000166106	ENST00000299164	T	0.04551	3.6	4.63	3.69	0.42338	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.02047	0.0064	N	0.03154	-0.405	0.22096	N	0.999367	B	0.19817	0.039	B	0.16722	0.016	T	0.47598	-0.9105	9	0.17369	T	0.5	.	4.0747	0.09899	0.2047:0.2129:0.5824:0.0	.	100	Q8TE58	ATS15_HUMAN	H	100	ENSP00000299164:R100H	ENSP00000299164:R100H	R	+	2	0	ADAMTS15	129824377	0.077000	0.21312	0.717000	0.30585	0.993000	0.82548	0.552000	0.23376	1.245000	0.43885	0.561000	0.74099	CGC		0.677	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		45	382	0	0	0	1	0	45	382					A	130319167	G	A	130319167	3	1	83	1	0	0	0	0	1	0	0	0	260	1087	38	1	301	1	ADAMTS15	11	130319167	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	11891484	130319167	4687349	84	32494											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000542912.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	11	60						11	60	---	---	---	---	C	7080213	-	C	7080212	8	5	83	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08		7080212	126771683	85	32495											
PDE3A	5139	broad.mit.edu	37	chr12	20833140	20833142	+	In_Frame_Del	DEL	GAA	GAA	-													aacagatccaggctatcaagGaagaagaagaagagaaaggg							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:20833140_20833142delGAA	ENST00000359062.3	+	16	3401_3403	c.3361_3363delGAA	c.(3361-3363)gaadel	p.E1125del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1125	Poly-Glu.				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)	GGCTATCAAGGAAGAAGAAGAAG	0.478																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(3361-3363)del		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001651	inframe_deletion	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20833140_20833142delGAA		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.3361_3363delGAA	12.37:g.20833149_20833151delGAA	ENSP00000351957:p.Glu1125del					PDE3A_ENST00000544307.1_3'UTR	p.E1125del	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			16	3401_3403	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1125			Poly-Glu.		O60865|Q13348|Q17RD1	In_Frame_Del	DEL	ENST00000359062.3	37	c.3361_3363delGAA	CCDS31754.1																																																																																				0.478	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			8	294						8	294	---	---	---	---	-	20833142	GAA	-	20833140	7	5	83	1	0	1	0	1	0	0	0	0	11679	1175	41	0	3423	0	PDE3A	12	20833140	In_Frame_Del	DEL	GAA	TCGA-IB-A5SO-01A-11D-A32N-08	13752928	20833140	113018755	86	32496											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-													ccattatttcttccataccaTtttttttcttgccgaaaaat							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138	135	136					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		7	276						7	276	---	---	---	---	-	21028267	T	-	21028267	7	5	83	1	0	1	0	1	0	0	0	0	14774	1493	52	0	852	0	SLCO1B3	12	21028267	Frame_Shift_Del	DEL	T	TCGA-IB-A5SO-01A-11D-A32N-08	195127	21028267	112823628	87	32497											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	77	0	0	0	1	0	9	77					T	25398284	C	T	25398284	3	4	83	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	4370017	25398284	108453611	88	32498											
POU6F1	5463	broad.mit.edu	37	chr12	51586202	51586202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggctggagctgggctgGcaatgaccacagcaggctgg	18	10	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:51586202G>A	ENST00000389243.4	-	9	1241	c.302C>T	c.(301-303)gCc>gTc	p.A101V	POU6F1_ENST00000550824.1_Missense_Mutation_p.A101V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A101V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	101	Gln/Pro-rich.				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						AGCTGGGCTGGCAATGACCAC	0.612																																						ENST00000389243.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						c.(301-303)gCc>gTc		POU class 6 homeobox 1							90	88	89					12																	51586202		2203	4300	6503	SO:0001583	missense	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51586202G>A	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.302C>T	12.37:g.51586202G>A	ENSP00000373895:p.Ala101Val					POU6F1_ENST00000550824.1_Missense_Mutation_p.A101V|POU6F1_ENST00000333640.10_Missense_Mutation_p.A101V	p.A101V			Q14863	PO6F1_HUMAN			9	1241	-			101			Gln/Pro-rich.		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	c.302C>T	CCDS31803.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577348	0.45902	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.86230	-2.09;-2.09;-2.09	5.69	4.75	0.60458	.	0.553568	0.20789	N	0.085655	T	0.81302	0.4794	L	0.34521	1.04	0.25496	N	0.987598	B	0.14438	0.01	B	0.04013	0.001	T	0.70342	-0.4898	10	0.40728	T	0.16	.	15.0878	0.72167	0.0:0.1424:0.8576:0.0	.	101	Q14863	PO6F1_HUMAN	V	101	ENSP00000373895:A101V;ENSP00000330190:A101V;ENSP00000448389:A101V	ENSP00000330190:A101V	A	-	2	0	POU6F1	49872469	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	3.445000	0.52921	2.695000	0.91970	0.655000	0.94253	GCC		0.612	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		5	478	0	0	0	1	0	5	478					A	51586202	G	A	51586202	3	1	83	1	0	0	0	0	1	0	0	0	12326	1203	42	2	615	2	POU6F1	12	51586202	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26187918	51586202	82265693	89	32499											
ESPL1	9700	broad.mit.edu	37	chr12	53663505	53663505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccttggaacactgccGtcgcttttgctggagccgcc	11	15	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:53663505G>A	ENST00000257934.4	+	3	870	c.779G>A	c.(778-780)cGt>cAt	p.R260H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	260					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						GAACACTGCCGTCGCTTTTGC	0.572																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				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						c.(778-780)cGt>cAt		extra spindle pole bodies homolog 1 (S. cerevisiae)							67	67	67					12																	53663505		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663505G>A	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.779G>A	12.37:g.53663505G>A	ENSP00000257934:p.Arg260His					ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	870	+			260						Missense_Mutation	SNP	ENST00000257934.4	37	c.779G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429533	0.83776	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.15256	2.44;2.44	5.41	4.5	0.54988	.	0.131175	0.50627	D	0.000102	T	0.36663	0.0975	M	0.72118	2.19	0.37632	D	0.921717	D	0.89917	1.0	D	0.63283	0.913	T	0.18116	-1.0347	9	.	.	.	.	13.5552	0.61756	0.0776:0.0:0.9224:0.0	.	260	Q14674	ESPL1_HUMAN	H	260	ENSP00000257934:R260H;ENSP00000449831:R260H	.	R	+	2	0	ESPL1	51949772	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.064000	0.57506	2.815000	0.96918	0.561000	0.74099	CGT		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		6	414	0	0	0	1	0	6	414					A	53663505	G	A	53663505	3	1	83	1	0	0	0	0	1	0	0	0	5271	1145	40	1	785	1	ESPL1	12	53663505	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	2077303	53663505	80188390	90	32500											
NAV3	89795	broad.mit.edu	37	chr12	78510672	78510672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacatcaccgtcccctctagGaagaatactcaggtgagaat	8	11	3	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:78510672G>C	ENST00000397909.2	+	13	2930	c.2757G>C	c.(2755-2757)agG>agC	p.R919S	NAV3_ENST00000228327.6_Missense_Mutation_p.R919S|NAV3_ENST00000266692.7_Missense_Mutation_p.R919S|NAV3_ENST00000536525.2_Missense_Mutation_p.R919S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	919						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						TCCCCTCTAGGAAGAATACTC	0.438										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(2755-2757)agG>agC		neuron navigator 3							180	171	174					12																	78510672		1996	4214	6210	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78510672G>C	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.2757G>C	12.37:g.78510672G>C	ENSP00000381007:p.Arg919Ser	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Missense_Mutation_p.R919S|NAV3_ENST00000536525.2_Missense_Mutation_p.R919S|NAV3_ENST00000228327.6_Missense_Mutation_p.R919S	p.R919S			Q8IVL0	NAV3_HUMAN			13	2930	+			919					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2757G>C		.	.	.	.	.	.	.	.	.	.	G	7.640	0.680645	0.14907	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.41400	1.12;1.15;1.14;1.0	5.71	1.68	0.24146	.	0.161609	0.27866	U	0.017533	T	0.28333	0.0700	L	0.36672	1.1	0.80722	D	1	B;B;B	0.28713	0.049;0.22;0.002	B;B;B	0.24541	0.016;0.054;0.008	T	0.06391	-1.0829	10	0.87932	D	0	-20.3424	6.4092	0.21682	0.4025:0.1194:0.4782:0.0	.	919;919;919	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	S	919	ENSP00000446132:R919S;ENSP00000381007:R919S;ENSP00000228327:R919S;ENSP00000266692:R919S	ENSP00000228327:R919S	R	+	3	2	NAV3	77034803	0.999000	0.42202	0.495000	0.27527	0.048000	0.14542	0.540000	0.23191	0.029000	0.15352	-0.259000	0.10710	AGG		0.438	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		6	346	0	0	0	1	0	6	346					C	78510672	G	C	78510672	3	2	83	1	0	0	0	0	1	0	0	0	10226	1165	41	5	2807	5	NAV3	12	78510672	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	24847167	78510672	55341223	91	32501											
POLR3B	55703	broad.mit.edu	37	chr12	106824112	106824112	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtaacccaagtgctgtctcGcttgtcatatatatccgcac	7	12	2	0	rs201153027		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:106824112G>C	ENST00000228347.4	+	14	1547	c.1325G>C	c.(1324-1326)cGc>cCc	p.R442P	POLR3B_ENST00000539066.1_Missense_Mutation_p.R384P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	442					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						GTGCTGTCTCGCTTGTCATAT	0.453																																						ENST00000228347.4																			0				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						c.(1324-1326)cGc>cCc		polymerase (RNA) III (DNA directed) polypeptide B							118	121	120					12																	106824112		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106824112G>C	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.1325G>C	12.37:g.106824112G>C	ENSP00000228347:p.Arg442Pro					POLR3B_ENST00000539066.1_Missense_Mutation_p.R384P	p.R442P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			14	1547	+			442					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1325G>C	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	31	5.099309	0.94197	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.80480	-1.38;-1.38	5.71	5.71	0.89125	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95590	0.8654	10	0.87932	D	0	-13.9996	19.8449	0.96704	0.0:0.0:1.0:0.0	.	442	Q9NW08	RPC2_HUMAN	P	442;442;384	ENSP00000228347:R442P;ENSP00000445721:R384P	ENSP00000228347:R442P	R	+	2	0	POLR3B	105348242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.680000	0.91292	0.655000	0.94253	CGC		0.453	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		5	451	0	0	0	1	0	5	451					C	106824112	G	C	106824112	3	2	83	1	0	0	0	0	1	0	0	0	12271	1087	38	5	1379	5	POLR3B	12	106824112	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	28313440	106824112	27027783	92	32502											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	12	12	1	1	rs533073686	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		7	600	0	0	0	1	0	7	600					C	125397652	T	C	125397652	2	2	83	1	0	0	0	0	0	0	0	1	16896	1625	57	4		4	UBC	12	125397652	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	18573540	125397652	8454243	93	32503											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		9	430						9	430	---	---	---	---	T	60582734	-	T	60582733	7	5	83	1	0	1	1	0	0	0	0	0	4536	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08		60582733	54587145	94	32504											
COL4A1	1282	broad.mit.edu	37	chr13	110857876	110857876	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttgtcaccatcttttcCgggtttgccctgtagaataa	7	12	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr13:110857876C>T	ENST00000375820.4	-	16	989	c.868G>A	c.(868-870)Gga>Aga	p.G290R	COL4A1_ENST00000543140.1_Missense_Mutation_p.G290R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	290	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCATCTTTTCCGGGTTTGCCC	0.473																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(868-870)Gga>Aga		collagen, type IV, alpha 1							127	147	140					13																	110857876		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857876C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.868G>A	13.37:g.110857876C>T	ENSP00000364979:p.Gly290Arg					COL4A1_ENST00000543140.1_Missense_Mutation_p.G290R	p.G290R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		16	989	-	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)	290			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.868G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460326	0.43736	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99353	-5.77;-5.77	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97186	0.9854	10	0.87932	D	0	.	17.8452	0.88728	0.0:1.0:0.0:0.0	.	290	P02462	CO4A1_HUMAN	R	279;290;290;290	ENSP00000364979:G290R;ENSP00000443348:G290R	ENSP00000364973:G279R	G	-	1	0	COL4A1	109655877	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	6.226000	0.72277	2.280000	0.76307	0.551000	0.68910	GGA		0.473	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			9	594	0	0	0	1	0	9	594					T	110857876	C	T	110857876	3	4	83	1	0	0	0	0	1	0	0	0	3698	661	23	1	4289	1	COL4A1	13	110857876	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	50275143	110857876	4312002	95	32505											
EFS	10278	broad.mit.edu	37	chr14	23829227	23829227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actggagggcacccggagggCggtggggggcacatcgtaga	20	9	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:23829227C>T	ENST00000216733.3	-	4	1067	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	EFS_ENST00000429593.2_Missense_Mutation_p.A61T|EFS_ENST00000351354.3_Missense_Mutation_p.A61T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	154	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		ACCCGGAGGGCGGTGGGGGGC	0.637																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(460-462)Gcc>Acc		embryonal Fyn-associated substrate							36	41	39					14																	23829227		2200	4295	6495	SO:0001583	missense	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23829227C>T	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.460G>A	14.37:g.23829227C>T	ENSP00000216733:p.Ala154Thr					EFS_ENST00000351354.3_Missense_Mutation_p.A61T|EFS_ENST00000429593.2_Missense_Mutation_p.A61T	p.A154T	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1067	-	all_cancers(95;7.12e-06)		154			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.460G>A	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207479	0.58343	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.57907	0.37;0.67;0.8	5.32	4.42	0.53409	.	0.471664	0.23237	N	0.050387	T	0.47377	0.1442	M	0.62723	1.935	0.33255	D	0.558962	P;P;P	0.52577	0.94;0.954;0.923	B;B;B	0.41619	0.259;0.361;0.198	T	0.60449	-0.7261	10	0.26408	T	0.33	-7.6625	10.4055	0.44254	0.0:0.907:0.0:0.093	.	61;61;154	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	T	154;61;61	ENSP00000216733:A154T;ENSP00000340607:A61T;ENSP00000416684:A61T	ENSP00000216733:A154T	A	-	1	0	EFS	22899067	0.981000	0.34729	0.903000	0.35520	0.393000	0.30537	1.155000	0.31700	1.450000	0.47717	0.563000	0.77884	GCC		0.637	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			5	343	0	0	0	1	0	5	343					T	23829227	C	T	23829227	3	4	83	1	0	0	0	0	1	0	0	0	4975	768	27	1	1237	1	EFS	14	23829227	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		23829227	83520313	96	32506											
AKAP6	9472	broad.mit.edu	37	chr14	33290803	33290803	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtaatgaggaccctggttatGacgaggaggctgataaccat	13	7	0	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:33290803G>A	ENST00000280979.4	+	13	3954	c.3784G>A	c.(3784-3786)Gac>Aac	p.D1262N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1262					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)		CCCTGGTTATGACGAGGAGGC	0.448																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(3784-3786)Gac>Aac		A kinase (PRKA) anchor protein 6							108	93	98					14																	33290803		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33290803G>A	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.3784G>A	14.37:g.33290803G>A	ENSP00000280979:p.Asp1262Asn					AKAP6_ENST00000557272.1_Intron	p.D1262N	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	3954	+	Breast(36;0.0388)|Prostate(35;0.15)		1262					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.3784G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367025	0.41902	.	.	ENSG00000151320	ENST00000280979	T	0.05319	3.46	6.03	6.03	0.97812	.	0.414559	0.26828	N	0.022293	T	0.05273	0.0140	N	0.14661	0.345	0.80722	D	1	B	0.32245	0.361	B	0.21360	0.034	T	0.45026	-0.9289	10	0.66056	D	0.02	-10.2954	18.7374	0.91761	0.0:0.0:1.0:0.0	.	1262	Q13023	AKAP6_HUMAN	N	1262	ENSP00000280979:D1262N	ENSP00000280979:D1262N	D	+	1	0	AKAP6	32360554	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.563000	0.67352	2.861000	0.98227	0.655000	0.94253	GAC		0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		5	192	0	0	0	1	0	5	192					A	33290803	G	A	33290803	3	1	83	1	0	0	0	0	1	0	0	0	455	1290	45	2	3830	2	AKAP6	14	33290803	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	9461576	33290803	74058737	97	32507											
INF2	64423	broad.mit.edu	37	chr14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G													atgggtccccagccatcggcINSgggtgaacccacccacactg							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1666-1668)ggtfs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105174270_105174271insG	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1669dupG	14.37:g.105174273_105174273dupG	ENSP00000376410:p.Arg556fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs	p.G556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	8	1778_1779	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	556			FH2.		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.1666_1667insG	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		7	314						7	314	---	---	---	---	G	105174271	-	G	105174270	7	5	83	1	0	1	1	0	0	0	0	0	7764	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	71883467	105174270	2175270	98	32508											
RTF1	23168	broad.mit.edu	37	chr15	41763442	41763442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcgggttcgattatcacgGcataagctagaacgctggtg	12	8	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41763442G>A	ENST00000389629.4	+	8	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	366	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458																																						ENST00000389629.4																			1	Substitution - coding silent(1)	p.R241R(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18						c.(1096-1098)cgG>cgA		Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							164	155	158					15																	41763442		2203	4300	6503	SO:0001819	synonymous_variant	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41763442G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1098G>A	15.37:g.41763442G>A							p.R366R	NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	8	1110	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	366			Plus3.		Q96BX6	Silent	SNP	ENST00000389629.4	37	c.1098G>A	CCDS32200.2																																																																																				0.458	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		5	473	0	0	0	1	0	5	473					A	41763442	G	A	41763442	2	1	83	1	0	0	0	0	0	0	0	1	13771	1190	42	2		2	RTF1	15	41763442	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		41763442	60767950	99	32509											
LTK	4058	broad.mit.edu	37	chr15	41797479	41797479	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagttgcagcaggtcccGcatgaccagaggtgatggct	15	11	0	3	rs149973033		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:41797479G>A	ENST00000263800.6	-	15	1948	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	LTK_ENST00000453182.2_Missense_Mutation_p.R488W|LTK_ENST00000355166.5_Missense_Mutation_p.R557W|LTK_ENST00000561619.1_Missense_Mutation_p.R316W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	618	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)		AGCAGGTCCCGCATGACCAGA	0.612										TSP Lung(18;0.14)																												ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(1852-1854)Cgg>Tgg		leukocyte receptor tyrosine kinase		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	49	46	47		1462,1852,1669	3.3	1	15	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	101,101,101	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	488/735,618/865,557/804	41797479	3,13003	2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797479G>A	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1852C>T	15.37:g.41797479G>A	ENSP00000263800:p.Arg618Trp	TSP Lung(18;0.14)				LTK_ENST00000453182.2_Missense_Mutation_p.R488W|LTK_ENST00000355166.5_Missense_Mutation_p.R557W|LTK_ENST00000561619.1_Missense_Mutation_p.R316W	p.R618W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	15	1948	-		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)	618			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.1852C>T	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379553	0.42207	2.27E-4	2.33E-4	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.83163	-1.69;-1.69;-1.69	4.29	3.34	0.38264	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88385	0.6422	M	0.73372	2.23	0.32016	N	0.601376	D;B;D;D	0.76494	0.999;0.004;0.997;0.997	D;B;P;P	0.64877	0.93;0.002;0.764;0.846	D	0.88120	0.2831	9	0.66056	D	0.02	.	10.3412	0.43879	0.1028:0.0:0.8972:0.0	.	488;488;557;618	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	W	557;618;488	ENSP00000347293:R557W;ENSP00000263800:R618W;ENSP00000392196:R488W	ENSP00000263800:R618W	R	-	1	2	LTK	39584771	1.000000	0.71417	0.953000	0.39169	0.788000	0.44548	3.436000	0.52856	0.960000	0.38005	0.561000	0.74099	CGG		0.612	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			5	223	0	0	0	1	0	5	223					A	41797479	G	A	41797479	3	1	83	1	0	0	0	0	1	0	0	0	9118	1086	38	1	766	1	LTK	15	41797479	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	34037	41797479	60733913	100	32510											
SEMA6D	80031	broad.mit.edu	37	chr15	48063190	48063190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacccctcagttttttccGtctagtccgccacctcattc	5	16	3	0	rs144939945	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:48063190G>A	ENST00000316364.5	+	19	2869	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000354744.4_Silent_p.P754P|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.P748P|SEMA6D_ENST00000536845.2_Silent_p.P810P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	810					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)	p.P748P(1)|p.P810P(1)		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)		AGTTTTTTCCGTCTAGTCCGC	0.507																																						ENST00000316364.5																			2	Substitution - coding silent(2)	p.P748P(1)|p.P810P(1)	endometrium(2)	biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2428-2430)ccG>ccA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D		A	,,,,,	1,4395	2.1+/-5.4	0,1,2197	87	88	88		2244,2244,2205,2262,2430,	-2.9	0.9	15	dbSNP_134	88	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-3	SEMA6D	NM_001198999.1,NM_020858.1,NM_153616.1,NM_153617.1,NM_153618.1,NM_153619.1	,,,,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	748/1012,748/1012,735/999,754/1018,810/1074,	48063190	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063190G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2430G>A	15.37:g.48063190G>A						SEMA6D_ENST00000537942.1_Silent_p.P748P|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Silent_p.P791P|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Silent_p.P754P|SEMA6D_ENST00000389432.2_Silent_p.P767P|SEMA6D_ENST00000536845.2_Silent_p.P810P|SEMA6D_ENST00000389428.3_Silent_p.P735P|SEMA6D_ENST00000558014.1_Silent_p.P748P|SEMA6D_ENST00000358066.4_Silent_p.P748P	p.P810P	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2869	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	810					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.2430G>A	CCDS32225.1																																																																																				0.507	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		26	390	0	0	0	1	0	26	390					A	48063190	G	A	48063190	2	1	83	1	0	0	0	0	0	0	0	1	14092	1132	40	1		1	SEMA6D	15	48063190	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6265711	48063190	54468202	101	32511											
UNC13C	440279	broad.mit.edu	37	chr15	54916007	54916007	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttagtgattgctattaatGacctaaactggcagaccaca	7	8	0	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:54916007G>A	ENST00000260323.11	+	31	6214	c.6214G>A	c.(6214-6216)Gac>Aac	p.D2072N	UNC13C_ENST00000545554.1_Missense_Mutation_p.D2072N|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2072	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)		TGCTATTAATGACCTAAACTG	0.368																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(6214-6216)Gac>Aac		unc-13 homolog C (C. elegans)							69	65	67					15																	54916007		1835	4084	5919	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54916007G>A	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.6214G>A	15.37:g.54916007G>A	ENSP00000260323:p.Asp2072Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.D2070N|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.D2072N	p.D2072N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	31	6214	+			2072			C2 2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.6214G>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	8.260	0.811040	0.16537	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.75367	-0.93;-0.93;-0.93	5.53	4.55	0.56014	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.344021	0.33419	N	0.004929	T	0.57227	0.2039	N	0.20357	0.565	0.34289	D	0.683087	B	0.06786	0.001	B	0.04013	0.001	T	0.59915	-0.7364	10	0.31617	T	0.26	.	9.1177	0.36769	0.2002:0.0:0.7998:0.0	.	2072	Q8NB66	UN13C_HUMAN	N	2072;2072;2070	ENSP00000260323:D2072N;ENSP00000438156:D2072N;ENSP00000442569:D2070N	ENSP00000260323:D2072N	D	+	1	0	UNC13C	52703299	1.000000	0.71417	0.997000	0.53966	0.333000	0.28666	4.974000	0.63771	1.196000	0.43129	0.563000	0.77884	GAC		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		11	89	0	0	0	1	0	11	89					A	54916007	G	A	54916007	3	1	83	1	0	0	0	0	1	0	0	0	17040	1290	45	2	6332	2	UNC13C	15	54916007	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	6852817	54916007	47615385	102	32512											
CCNB2	9133	broad.mit.edu	37	chr15	59409031	59409031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttataccagttcccaaatccGagaaatggaaactctaattt	5	9	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:59409031G>A	ENST00000288207.2	+	6	931	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	CCNB2_ENST00000559622.1_Missense_Mutation_p.R166Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	247					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TCCCAAATCCGAGAAATGGAA	0.413																																						ENST00000288207.2																			0				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(739-741)cGa>cAa		cyclin B2							117	120	119					15																	59409031		2191	4291	6482	SO:0001583	missense	9133				cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding	g.chr15:59409031G>A	AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.740G>A	15.37:g.59409031G>A	ENSP00000288207:p.Arg247Gln					CCNB2_ENST00000559622.1_Missense_Mutation_p.R166Q	p.R247Q	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN			6	931	+			247					B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	c.740G>A	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225727	0.58668	.	.	ENSG00000157456	ENST00000288207	T	0.10960	2.82	5.28	4.35	0.52113	Cyclin, N-terminal (1);Cyclin-like (3);	0.118236	0.53938	D	0.000046	T	0.16727	0.0402	M	0.70842	2.15	0.52501	D	0.999952	P;P	0.43826	0.812;0.818	B;B	0.40782	0.163;0.34	T	0.02617	-1.1133	10	0.72032	D	0.01	.	14.4633	0.67467	0.0:0.0:0.8518:0.1482	.	247;247	Q53HG9;O95067	.;CCNB2_HUMAN	Q	247	ENSP00000288207:R247Q	ENSP00000288207:R247Q	R	+	2	0	CCNB2	57196323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.381000	0.59587	1.318000	0.45170	0.650000	0.86243	CGA		0.413	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701		7	482	0	0	0	1	0	7	482					A	59409031	G	A	59409031	3	1	83	1	0	0	0	0	1	0	0	0	2922	1058	37	1	762	1	CCNB2	15	59409031	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4493024	59409031	43122361	103	32513											
EFTUD1	79631	broad.mit.edu	37	chr15	82530841	82530841	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taggactttagaagtaaaaaGagtccctgtgagcgcattaa	10	6	0	3			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr15:82530841G>A	ENST00000268206.7	-	7	706	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	EFTUD1_ENST00000359445.3_Missense_Mutation_p.L129F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	180	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGTAAAAAGAGTCCCTGTG	0.453																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(538-540)Ctt>Ttt		elongation factor Tu GTP binding domain containing 1							38	33	35					15																	82530841		1820	4071	5891	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82530841G>A	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.538C>T	15.37:g.82530841G>A	ENSP00000268206:p.Leu180Phe					EFTUD1_ENST00000359445.3_Missense_Mutation_p.L129F	p.L180F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN			7	706	-			180					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.538C>T	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320203	0.41096	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	Protein synthesis factor, GTP-binding (1);	0.000000	0.47093	U	0.000251	T	0.81706	0.4879	L	0.38692	1.165	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.76184	-0.3052	10	0.13470	T	0.59	-0.0792	17.7897	0.88548	0.0:0.0:1.0:0.0	.	129;180	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	F	180;129	ENSP00000268206:L180F;ENSP00000352418:L129F	ENSP00000268206:L180F	L	-	1	0	EFTUD1	80317896	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.644000	0.61397	2.501000	0.84356	0.405000	0.27470	CTT		0.453	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		8	93	0	0	0	1	0	8	93					A	82530841	G	A	82530841	3	1	83	1	0	0	0	0	1	0	0	0	4976	942	33	2	2880	2	EFTUD1	15	82530841	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	23121810	82530841	20000551	104	32514											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1814146	1814146	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgggggccaggaggacacgCggatgaagaacgtgccggtg	19	9	0	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:1814146C>A	ENST00000250894.4	+	18	2210	c.2053C>A	c.(2053-2055)Cgg>Agg	p.R685R	MAPK8IP3_ENST00000356010.5_Silent_p.R679R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	685					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGGACACGCGGATGAAGAA	0.672																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2053-2055)Cgg>Agg		mitogen-activated protein kinase 8 interacting protein 3							34	45	41					16																	1814146		2101	4205	6306	SO:0001819	synonymous_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1814146C>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2053C>A	16.37:g.1814146C>A						MAPK8IP3_ENST00000356010.5_Silent_p.R679R	p.R685R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			18	2210	+			685					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	c.2053C>A	CCDS10442.2																																																																																				0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		6	238	1	0	1	1	1	6	238					A	1814146	C	A	1814146	2	1	83	1	0	0	0	0	0	0	0	1	9327	759	27	3		3	MAPK8IP3	16	1814146	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		1814146	88540607	105	32515											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		9	563						9	563	---	---	---	---	-	1824300	TGC	-	1824298	7	5	83	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-A5SO-01A-11D-A32N-08	10152	1824298	88530455	106	32516											
PPL	5493	broad.mit.edu	37	chr16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgccttggggtctggccGcacgatctcccgcaccttct	10	17	3	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1179					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						GGGTCTGGCCGCACGATCTCC	0.627																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3535-3537)Cgg>Tgg		periplakin							107	97	100					16																	4935121		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935121G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3535C>T	16.37:g.4935121G>A	ENSP00000340510:p.Arg1179Trp					PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	p.R1179W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3624	-			1179					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3535C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222315	0.79464	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.493000	0.66899	2.677000	0.91161	0.561000	0.74099	CGG		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		6	471	0	0	0	1	0	6	471					A	4935121	G	A	4935121	3	1	83	1	0	0	0	0	1	0	0	0	12381	1086	38	1	1739	1	PPL	16	4935121	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3110823	4935121	85419632	107	32517											
XPO6	23214	broad.mit.edu	37	chr16	28167671	28167671	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaatcgtgcaaagtggaagAtggtggtaaggagggatggg	18	3	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:28167671A>G	ENST00000304658.5	-	7	1321	c.821T>C	c.(820-822)aTc>aCc	p.I274T	XPO6_ENST00000565698.1_Missense_Mutation_p.I260T|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	274					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						AAAGTGGAAGATGGTGGTAAG	0.567																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(820-822)aTc>aCc		exportin 6							93	98	97					16																	28167671		2033	4192	6225	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167671A>G	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.821T>C	16.37:g.28167671A>G	ENSP00000302790:p.Ile274Thr					XPO6_ENST00000565698.1_Missense_Mutation_p.I260T	p.I274T	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			7	1321	-			274					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.821T>C	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301967	0.81136	.	.	ENSG00000169180	ENST00000304658	T	0.51574	0.7	5.87	5.87	0.94306	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.61703	1.905	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70487	0.969;0.954	T	0.68172	-0.5479	10	0.87932	D	0	-20.6372	14.5226	0.67863	1.0:0.0:0.0:0.0	.	274;274	B7ZM10;Q96QU8	.;XPO6_HUMAN	T	274	ENSP00000302790:I274T	ENSP00000302790:I274T	I	-	2	0	XPO6	28075172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATC		0.567	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		6	334	0	0	0	1	0	6	334					G	28167671	A	G	28167671	3	3	83	1	0	0	0	0	1	0	0	0	17502	333	12	4	2628	4	XPO6	16	28167671	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08	23232550	28167671	62187082	108	32518											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa					rs368747234		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	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.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	202						8	202	---	---	---	---	-	29994533	GAG	-	29994531	7	5	83	1	0	1	0	1	0	0	0	0	15600	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-IB-A5SO-01A-11D-A32N-08	1826860	29994531	60360222	109	32519											
GNAO1	2775	broad.mit.edu	37	chr16	56374750	56374750	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccactctgttgcagaaccGcatgcacgaatccctgaagc	8	15	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:56374750G>A	ENST00000262493.6	+	6	1569				GNAO1_ENST00000262494.7_Missense_Mutation_p.R243H	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGCAGAACCGCATGCACGAA	0.532																																						ENST00000262494.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17						c.(727-729)cGc>cAc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O							246	247	247					16																	56374750		2198	4300	6498	SO:0001627	intron_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56374750G>A		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.723+3978G>A	16.37:g.56374750G>A						GNAO1_ENST00000262493.6_Intron	p.R243H	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN			7	988	+		all_neural(199;0.159)	243					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.728G>A	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155658	0.94686	.	.	ENSG00000087258	ENST00000262494	D	0.92249	-3.0	5.02	5.02	0.67125	.	.	.	.	.	D	0.98124	0.9381	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99882	1.1114	9	0.87932	D	0	.	18.3413	0.90307	0.0:0.0:1.0:0.0	.	243	P09471-2	.	H	243	ENSP00000262494:R243H	ENSP00000262494:R243H	R	+	2	0	GNAO1	54932251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.332000	0.79248	0.561000	0.74099	CGC		0.532	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2	NM_020988		8	973	0	0	0	1	0	8	973					A	56374750	G	A	56374750	1	1	83	0	1	0	0	0	0	0	0	0	6537	1087	38	1		1	GNAO1	16	56374750	Intron	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	26380219	56374750	33980003	110	32520											
NUTF2	10204	broad.mit.edu	37	chr16	67904796	67904796	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatgacatgttcaggctcGccctgcacaactttggctga	9	13	1	2	rs201657691		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:67904796G>A	ENST00000219169.4	+	5	647	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	EDC4_ENST00000358933.5_5'Flank|NUTF2_ENST00000569436.2_Missense_Mutation_p.A122T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	122					protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		GTTCAGGCTCGCCCTGCACAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20536	0.0		0.001	False		,,,				2504	0.0					ENST00000219169.4																			0				kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(364-366)Gcc>Acc		nuclear transport factor 2							102	86	91					16																	67904796		2198	4300	6498	SO:0001583	missense	10204				protein transport	cytosol|nuclear pore	protein binding|transporter activity	g.chr16:67904796G>A	U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.364G>A	16.37:g.67904796G>A	ENSP00000219169:p.Ala122Thr					NUTF2_ENST00000568396.2_Missense_Mutation_p.A122T|NUTF2_ENST00000569436.2_Missense_Mutation_p.A122T|CTC-479C5.16_ENST00000587481.1_RNA	p.A122T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)	5	647	+		Ovarian(137;0.0563)	122					B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	ENST00000219169.4	37	c.364G>A	CCDS10848.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.7	4.031459	0.75504	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.35	5.35	0.76521	.	0.053987	0.64402	D	0.000001	T	0.61751	0.2372	M	0.82323	2.585	0.80722	D	1	B	0.33583	0.418	B	0.18561	0.022	T	0.63712	-0.6575	9	0.14252	T	0.57	-33.3308	18.6568	0.91456	0.0:0.0:1.0:0.0	.	122	P61970	NTF2_HUMAN	T	122	.	ENSP00000219169:A122T	A	+	1	0	NUTF2	66462297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.263000	0.72521	2.500000	0.84329	0.655000	0.94253	GCC		0.517	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268871.1			13	241	0	0	0	1	0	13	241					A	67904796	G	A	67904796	3	1	83	1	0	0	0	0	1	0	0	0	10821	1087	38	1	378	1	NUTF2	16	67904796	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	11530046	67904796	22449957	111	32521											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356310	77356311	+	Frame_Shift_Ins	INS	-	-	A													ttcactttgccggacattgcINSaaaaaaaaattcaaagttct							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:77356310_77356311insA	ENST00000282849.5	-	14	2503_2504	c.2085_2086insT	c.(2083-2088)tttgcafs	p.A696fs		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	696	Cys-rich.				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.A696fs*18(2)		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						CCGGACATTGCAAAAAAAAATT	0.406																																						ENST00000282849.5																			2	Insertion - Frameshift(2)	p.A696fs*18(2)	large_intestine(2)	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						c.(2083-2088)ttcaatfs		ADAM metallopeptidase with thrombospondin type 1 motif, 18																																				SO:0001589	frameshift_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77356310_77356311insA	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.2086dupT	16.37:g.77356319_77356319dupA	ENSP00000282849:p.Ala696fs						p.N696fs	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			14	2503_2504	-			696			Cys-rich.		Q6P4R5|Q6ZWJ9	Frame_Shift_Ins	INS	ENST00000282849.5	37	c.2085_2086insT	CCDS10926.1																																																																																				0.406	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			9	368						9	368	---	---	---	---	A	77356311	-	A	77356310	7	5	83	1	0	1	1	0	0	0	0	0	263	710	25	0	1619	0	ADAMTS18	16	77356310	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08	9451514	77356310	12998443	112	32522											
ATMIN	23300	broad.mit.edu	37	chr16	81077602	81077624	+	Frame_Shift_Del	DEL	GTCCAACGGATGACCATGTACAG	GTCCAACGGATGACCATGTACAG	-													tcaaaccagtgggatagaaaGtccaacggatgaccatgtac					rs145397957|rs537068234		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:81077602_81077624delGTCCAACGGATGACCATGTACAG	ENST00000299575.4	+	4	1523_1545	c.1499_1521delGTCCAACGGATGACCATGTACAG	c.(1498-1521)agtccaacggatgaccatgtacagfs	p.SPTDDHVQ500fs	ATMIN_ENST00000566488.1_Frame_Shift_Del_p.SPTDDHVQ344fs|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.SPTDDHVQ344fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	500					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)	p.S500N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GGGATAGAAAGTCCAACGGATGACCATGTACAGATGGACCAAG	0.426																																						ENST00000566488.1																			1	Substitution - Missense(1)	p.S500N(1)	kidney(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1030-1053)afs		ATM interactor																																				SO:0001589	frameshift_variant	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077602_81077624delGTCCAACGGATGACCATGTACAG	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.1499_1521delGTCCAACGGATGACCATGTACAG	16.37:g.81077602_81077624delGTCCAACGGATGACCATGTACAG	ENSP00000299575:p.Ser500fs					ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.SPTDDHVQ344fs|ATMIN_ENST00000299575.4_Frame_Shift_Del_p.SPTDDHVQ500fs	p.SPTDDHVQ344fs			O43313	ATMIN_HUMAN			3	1994_2016	+			500			Required for formation of RAD51 foci.		A8K4H8|Q68DC9	Frame_Shift_Del	DEL	ENST00000299575.4	37	c.1031_1053delGTCCAACGGATGACCATGTACAG	CCDS32494.1																																																																																				0.426	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		14	260						14	260	---	---	---	---	-	81077624	GTCCAACGGATGACCATGTACAG	-	81077602	7	5	83	1	0	1	0	1	0	0	0	0	1111	1029	36	0	1513	0	ATMIN	16	81077602	Frame_Shift_Del	DEL	GTCCAACGGATGACCATGTACAG	TCGA-IB-A5SO-01A-11D-A32N-08	3721292	81077602	9277151	113	32523											
FOXC2	2303	broad.mit.edu	37	chr16	86601494	86601494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggagcgggcccacctcaagGagccgcccccggcggcgtcc	15	18	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr16:86601494G>A	ENST00000320354.4	+	1	638	c.553G>A	c.(553-555)Gag>Aag	p.E185K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	185					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA 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)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCACCTCAAGGAGCCGCCCCC	0.682									Late-onset Hereditary Lymphedema																													ENST00000320354.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(553-555)Gag>Aag		forkhead box C2 (MFH-1, mesenchyme forkhead 1)							14	21	18					16																	86601494		2060	4113	6173	SO:0001583	missense	2303	Late-onset Hereditary Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601494G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.553G>A	16.37:g.86601494G>A	ENSP00000326371:p.Glu185Lys						p.E185K	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN			1	638	+			185					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.553G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	g	15.19	2.758706	0.49468	.	.	ENSG00000176692	ENST00000320354	D	0.95001	-3.58	4.23	4.23	0.50019	.	1.447760	0.04727	U	0.420400	D	0.91935	0.7446	L	0.39898	1.24	0.48087	D	0.999582	B	0.11235	0.004	B	0.09377	0.004	T	0.70608	-0.4825	10	0.11182	T	0.66	.	15.2735	0.73723	0.0:0.0:1.0:0.0	.	185	Q99958	FOXC2_HUMAN	K	185	ENSP00000326371:E185K	ENSP00000326371:E185K	E	+	1	0	FOXC2	85158995	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.154000	0.64894	1.917000	0.55516	0.553000	0.69018	GAG		0.682	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		5	232	0	0	0	1	0	5	232					A	86601494	G	A	86601494	3	1	83	1	0	0	0	0	1	0	0	0	6020	1175	41	2	555	2	FOXC2	16	86601494	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	5523892	86601494	3753259	114	32524											
POLR2A	5430	broad.mit.edu	37	chr17	7405016	7405016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagtctatggtcgtgtccGgagctaaaggttccaagatt	11	8	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7405016G>A	ENST00000322644.6	+	14	2716	c.2317G>A	c.(2317-2319)Gga>Aga	p.G773R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	773					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGTCGTGTCCGGAGCTAAAGG	0.483																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2317-2319)Gga>Aga		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							63	59	61					17																	7405016		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405016G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2317G>A	17.37:g.7405016G>A	ENSP00000314949:p.Gly773Arg						p.G773R	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2716	+		Prostate(122;0.173)	773					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2317G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947770	0.92593	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	D	0.97378	-4.36	5.82	5.82	0.92795	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-6.8597	18.8608	0.92271	0.0:0.0:1.0:0.0	.	773	P24928	RPB1_HUMAN	R	729;773	ENSP00000314949:G773R	ENSP00000314949:G773R	G	+	1	0	SLC35G6	7345740	1.000000	0.71417	0.904000	0.35570	0.986000	0.74619	9.627000	0.98412	2.761000	0.94854	0.655000	0.94253	GGA		0.483	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		4	198	0	0	0	1	0	4	198					A	7405016	G	A	7405016	3	1	83	1	0	0	0	0	1	0	0	0	12256	1117	39	1	2371	1	POLR2A	17	7405016	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		7405016	73790194	115	32525											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	12	9	0	2	rs397516435		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	173	0	0	0	1	0	15	173					A	7578263	G	A	7578263	4	1	83	1	0	0	0	0	0	1	0	0	16434	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	173247	7578263	73616947	116	32526											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	373	0	0	0	1	0	5	373					C	16285560	T	C	16285560	2	2	83	1	0	0	0	0	0	0	0	1	16895	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08	8707297	16285560	64909650	117	32527											
MAPT	4137	broad.mit.edu	37	chr17	44060672	44060672	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggccccagagaggccacaCgccaaccttcggggacagga	14	14	0	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:44060672C>T	ENST00000571987.1	+	5	502	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168C|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.R168C|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000420682.2_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	168					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)	AGAGGCCACACGCCAACCTTC	0.692																																						ENST00000344290.5																			0				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						c.(502-504)Cgc>Tgc		microtubule-associated protein tau							13	15	14					17																	44060672		2196	4292	6488	SO:0001583	missense	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44060672C>T	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.502C>T	17.37:g.44060672C>T	ENSP00000458742:p.Arg168Cys					MAPT_ENST00000535772.1_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.R168C|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.R168C|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.R168C	p.R168C	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			6	824	+		Melanoma(429;0.216)	168					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.502C>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188535	0.38609	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10382	2.88;2.88;2.88	4.03	-2.5	0.06384	.	2.448770	0.01389	N	0.013192	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.0	T	0.37934	-0.9684	10	0.52906	T	0.07	4.9526	4.149	0.10228	0.0:0.3518:0.3326:0.3156	.	168;168	P10636-9;P10636	.;TAU_HUMAN	C	168	ENSP00000340820:R168C;ENSP00000262410:R168C;ENSP00000410838:R168C	ENSP00000262410:R168C	R	+	1	0	MAPT	41416509	0.000000	0.05858	0.000000	0.03702	0.427000	0.31564	-2.823000	0.00748	-0.148000	0.11234	0.561000	0.74099	CGC		0.692	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		5	57	0	0	0	1	0	5	57					T	44060672	C	T	44060672	3	4	83	1	0	0	0	0	1	0	0	0	9338	536	19	1	520	1	MAPT	17	44060672	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	27775112	44060672	37134538	118	32528											
PRPSAP1	5635	broad.mit.edu	37	chr17	74309083	74309083	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaaaactctccacatcGtcaataatgtcatcctggga	6	12	3	0	rs148092431		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:74309083G>A	ENST00000446526.3	-	9	1312	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Silent_p.D186D	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	260					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TCTCCACATCGTCAATAATGT	0.512																																						ENST00000446526.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(865-867)gaC>gaT		phosphoribosyl pyrophosphate synthetase-associated protein 1		G		2,4404	4.2+/-10.8	0,2,2201	100	98	99		867	-7.9	0	17	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	PRPSAP1	NM_002766.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		289/386	74309083	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74309083G>A	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.867C>T	17.37:g.74309083G>A						PRPSAP1_ENST00000324684.4_Silent_p.D186D|PRPSAP1_ENST00000588364.1_5'UTR	p.D289D	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN			9	1312	-			260					B2R6M4|Q96H06	Silent	SNP	ENST00000446526.3	37	c.867C>T	CCDS11743.2																																																																																				0.512	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766		38	348	0	0	0	1	0	38	348					A	74309083	G	A	74309083	2	1	83	1	0	0	0	0	0	0	0	1	12628	1136	40	1		1	PRPSAP1	17	74309083	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	30248411	74309083	6886127	119	32529											
DNAH17	8632	broad.mit.edu	37	chr17	76455199	76455199	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagacctcgtagaagcggaCgatgttgatgcaccaggagc	14	9	0	3	rs139080560	byFrequency	TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr17:76455199C>T	ENST00000585328.1	-	61	9854	c.9730G>A	c.(9730-9732)Gtc>Atc	p.V3244I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V3235I|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3235	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGAAGCGGACGATGTTGATG	0.637													C|||	12	0.00239617	0.0091	0.0	5008	,	,		18349	0.0		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9703-9705)Gtc>Atc		dynein, axonemal, heavy chain 17		C	ILE/VAL	52,4354	54.2+/-90.2	1,50,2152	171	177	175		9745	5.3	1	17	dbSNP_134	175	0,8600		0,0,4300	yes	missense	DNAH17	NM_173628.3	29	1,50,6452	TT,TC,CC		0.0,1.1802,0.3998	benign	3249/4463	76455199	52,12954	2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455199C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9730G>A	17.37:g.76455199C>T	ENSP00000465516:p.Val3244Ile					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3244I	p.V3235I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		61	9827	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9703G>A		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	14.20	2.464303	0.43736	0.011802	0.0	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.79141	-1.24	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000022	T	0.58452	0.2123	L	0.35487	1.065	0.33727	D	0.617749	P	0.35481	0.504	B	0.29716	0.106	T	0.67601	-0.5629	10	0.09590	T	0.72	.	18.6873	0.91570	0.0:1.0:0.0:0.0	.	3244	E7EUM8	.	I	3244;3235	ENSP00000374490:V3235I	ENSP00000300671:V3244I	V	-	1	0	DNAH17	73966794	0.998000	0.40836	0.991000	0.47740	0.991000	0.79684	3.678000	0.54627	2.491000	0.84063	0.655000	0.94253	GTC		0.637	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		77	854	0	0	0	1	0	77	854					T	76455199	C	T	76455199	3	4	83	1	0	0	0	0	1	0	0	0	4617	536	19	1	3727	1	DNAH17	17	76455199	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	2146116	76455199	4740011	120	32530											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt					rs370244500		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					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)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				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						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	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.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	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)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.46	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	665						7	665	---	---	---	---	T	21745097	-	T	21745096	7	5	83	1	0	1	1	0	0	0	0	0	11319	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-IB-A5SO-01A-11D-A32N-08		21745096	56332152	121	32531											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|AC005943.5_ENST00000588960.1_lincRNA	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)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	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_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		10	192						10	192	---	---	---	---	-	1578374	CTC	-	1578372	7	5	83	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-IB-A5SO-01A-11D-A32N-08		1578372	57550611	122	32532											
FCGBP	8857	broad.mit.edu	37	chr19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctagggcctggatgggccGcagcagtgtcagctccgctg	16	13	1	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					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)			TGGATGGGCCGCAGCAGTGTC	0.597																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(400-402)Cgg>Tgg		Fc fragment of IgG binding protein							64	54	57					19																	40433869		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433869G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.400C>T	19.37:g.40433869G>A	ENSP00000221347:p.Arg134Trp						p.R134W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	407	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		134			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.400C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442631	0.12164	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.13	-8.27	0.01017	.	0.899723	0.09194	N	0.835531	T	0.04137	0.0115	N	0.00926	-1.1	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45991	-0.9223	10	0.37606	T	0.19	.	8.3971	0.32564	0.6469:0.0:0.1439:0.2092	.	134	Q9Y6R7	FCGBP_HUMAN	W	134	ENSP00000221347:R134W	ENSP00000221347:R134W	R	-	1	2	FCGBP	45125709	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.060000	0.11712	-1.660000	0.01486	0.655000	0.94253	CGG		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	191	0	0	0	1	0	4	191					A	40433869	G	A	40433869	3	1	83	1	0	0	0	0	1	0	0	0	5803	1086	38	1	15957	1	FCGBP	19	40433869	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	38855497	40433869	18695114	123	32533											
TMEM143	55260	broad.mit.edu	37	chr19	48837419	48837419	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagtacagcatgtgcgccagCtccaacgcctgcgcgctgcg	12	15	0	0			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr19:48837419C>G	ENST00000293261.3	-	7	1327	c.1011G>C	c.(1009-1011)gaG>gaC	p.E337D	TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000435956.3_Missense_Mutation_p.E302D|TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D|TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	337					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGTGCGCCAGCTCCAACGCCT	0.701											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293261.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(1009-1011)gaG>gaC		transmembrane protein 143							15	15	15					19																	48837419		2191	4286	6477	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48837419C>G	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1011G>C	19.37:g.48837419C>G	ENSP00000293261:p.Glu337Asp		OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	957	TMEM143_ENST00000377431.2_Missense_Mutation_p.E237D|TMEM143_ENST00000541566.1_Missense_Mutation_p.E227D|TMEM143_ENST00000435956.3_Missense_Mutation_p.E302D|TMEM143_ENST00000436660.2_Missense_Mutation_p.E272D	p.E337D	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	7	1327	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	337					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.1011G>C	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571313	0.28003	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50548	0.74;0.76;0.75	4.02	1.82	0.25136	.	0.104192	0.39274	N	0.001413	T	0.33294	0.0858	L	0.47716	1.5	0.27686	N	0.946273	B;B;B;B	0.15930	0.015;0.0;0.004;0.001	B;B;B;B	0.17979	0.02;0.002;0.015;0.004	T	0.17745	-1.0359	10	0.18710	T	0.47	-14.1542	5.1988	0.15252	0.0:0.6356:0.1716:0.1929	.	272;237;302;337	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	D	337;237;302;272;227	ENSP00000293261:E337D;ENSP00000397038:E302D;ENSP00000444275:E227D	ENSP00000293261:E337D	E	-	3	2	TMEM143	53529231	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	0.755000	0.26405	0.299000	0.22661	0.313000	0.20887	GAG		0.701	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		8	60	0	0	0	1	0	8	60					G	48837419	C	G	48837419	3	3	83	1	0	0	0	0	1	0	0	0	16109	796	28	5	376	5	TMEM143	19	48837419	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	8403550	48837419	10291564	124	32534											
TGM6	343641	broad.mit.edu	37	chr20	2397961	2397961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggagaatctggatcCgcagggctgggggtcgctgt	18	8	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:2397961C>T	ENST00000202625.2	+	10	1481	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TGM6_ENST00000381423.1_Missense_Mutation_p.R474C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	474					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)	AATCTGGATCCGCAGGGCTGG	0.622																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1420-1422)Cgc>Tgc		transglutaminase 6	L-Glutamine(DB00130)						40	33	35					20																	2397961		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2397961C>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1420C>T	20.37:g.2397961C>T	ENSP00000202625:p.Arg474Cys					TGM6_ENST00000381423.1_Missense_Mutation_p.R474C	p.R474C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			10	1481	+			474					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1420C>T	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542366	0.45280	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.80909	-1.27;-1.43	4.54	4.54	0.55810	.	0.768164	0.11873	N	0.521286	D	0.82527	0.5056	L	0.47716	1.5	0.31804	N	0.62801	D;D	0.69078	0.997;0.991	P;B	0.53861	0.736;0.332	T	0.82133	-0.0608	10	0.56958	D	0.05	-9.2741	12.6614	0.56815	0.0:1.0:0.0:0.0	.	474;474	O95932-2;O95932	.;TGM3L_HUMAN	C	474	ENSP00000202625:R474C;ENSP00000370831:R474C	ENSP00000202625:R474C	R	+	1	0	TGM6	2345961	0.187000	0.23238	0.123000	0.21794	0.315000	0.28087	4.094000	0.57721	2.368000	0.80403	0.563000	0.77884	CGC		0.622	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		6	82	0	0	0	1	0	6	82					T	2397961	C	T	2397961	3	4	83	1	0	0	0	0	1	0	0	0	15886	652	23	1	1458	1	TGM6	20	2397961	Missense_Mutation	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08		2397961	60627559	125	32535											
C20orf3	57136	broad.mit.edu	37	chr20	24954286	24954286	+	Frame_Shift_Del	DEL	G	G	-													ttatcaccaacttactgcaaGggcccgaaccaaaccgggca							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:24954286delG	ENST00000217456.2	-	4	706	c.416delC	c.(415-417)cctfs	p.P139fs	RNU6-1257P_ENST00000384625.1_RNA|APMAP_ENST00000447138.1_Frame_Shift_Del_p.P139fs	NM_020531.2	NP_065392.1	Q9HDC9	APMAP_HUMAN	adipocyte plasma membrane associated protein	139					biosynthetic process (GO:0009058)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	arylesterase activity (GO:0004064)|strictosidine synthase activity (GO:0016844)										CTTACTGCAAGGGCCCGAACC	0.458																																						ENST00000217456.2																			0											c.(415-417)ctfs		adipocyte plasma membrane associated protein							101	86	91					20																	24954286		2203	4300	6503	SO:0001589	frameshift_variant	57136							g.chr20:24954286delG	AB033767	CCDS13166.1	20p11.2	2012-07-20	2012-07-20	2012-07-20	ENSG00000101474	ENSG00000101474			13238	protein-coding gene	gene with protein product		615884	"chromosome 20 open reading frame 3"	C20orf3		10945474, 11583587, 20552250	Standard	NM_020531		Approved	BSCv	uc002wty.3	Q9HDC9	OTTHUMG00000032107	ENST00000217456.2:c.416delC	20.37:g.24954286delG	ENSP00000217456:p.Pro139fs					APMAP_ENST00000447138.1_Frame_Shift_Del_p.P139fs	p.P139fs	NM_020531.2	NP_065392.1					4	706	-								A8K514|B4DXG1|Q6UVZ8|Q9GZS8|Q9NUB2	Frame_Shift_Del	DEL	ENST00000217456.2	37	c.416delC	CCDS13166.1																																																																																				0.458	APMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078380.2	NM_020531		10	162						10	162	---	---	---	---	-	24954286	G	-	24954286	7	5	83	1	0	1	0	1	0	0	0	0	2116	1000	35	0	858	0	C20orf3	20	24954286	Frame_Shift_Del	DEL	G	TCGA-IB-A5SO-01A-11D-A32N-08	22556325	24954286	38071234	126	32536											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		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)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		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)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80	78	79					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		5	210	0	0	0	1	0	5	210					A	57484421	G	A	57484421	3	1	83	1	0	0	0	0	1	0	0	0	6539	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	32530135	57484421	5541099	127	32537											
OPRL1	4987	broad.mit.edu	37	chr20	62729805	62729805	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cgggctcccgagagaaggacCggaacctgcggcgcatcact	14	14	1	1	rs376128527		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr20:62729805C>A	ENST00000349451.3	+	6	1178	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	OPRL1_ENST00000355631.4_Silent_p.R256R|OPRL1_ENST00000336866.2_Silent_p.R256R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	256					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)					AGAGAAGGACCGGAACCTGCG	0.657																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(766-768)Cgg>Agg		opiate receptor-like 1							121	107	112					20																	62729805		2203	4299	6502	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729805C>A		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.766C>A	20.37:g.62729805C>A						OPRL1_ENST00000336866.2_Silent_p.R256R|OPRL1_ENST00000355631.4_Silent_p.R256R	p.R256R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			6	1178	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		256					Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.766C>A	CCDS13556.1																																																																																				0.657	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		9	377	1	0	0.00621372	1	0.00634317	9	377					A	62729805	C	A	62729805	2	1	83	1	0	0	0	0	0	0	0	1	10928	643	23	3		3	OPRL1	20	62729805	Silent	SNP	C	TCGA-IB-A5SO-01A-11D-A32N-08	5245384	62729805	295715	128	32538											
HLCS	3141	broad.mit.edu	37	chr21	38269180	38269180	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatccaggagacgcatcgtTgtgggggtcacttcggcaaa	13	11	1	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:38269180T>C	ENST00000399120.1	-	7	2661	c.1431A>G	c.(1429-1431)acA>acG	p.T477T	HLCS_ENST00000336648.4_Silent_p.T477T|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	477	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GACGCATCGTTGTGGGGGTCA	0.493																																						ENST00000399120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24						c.(1429-1431)acA>acG		holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	Biotin(DB00121)						88	79	82					21																	38269180		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38269180T>C		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1431A>G	21.37:g.38269180T>C						HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Silent_p.T477T	p.T477T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN			7	2661	-		Myeloproliferative disorder(46;0.0422)	477					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.1431A>G	CCDS13647.1																																																																																				0.493	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			16	188	0	0	0	1	0	16	188					C	38269180	T	C	38269180	2	2	83	1	0	0	0	0	0	0	0	1	7243	1799	63	4		4	HLCS	21	38269180	Silent	SNP	T	TCGA-IB-A5SO-01A-11D-A32N-08		38269180	9860715	129	32539											
POFUT2	23275	broad.mit.edu	37	chr21	46705777	46705777	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agagtcttcaggagagaggcGattcggatatagacatccct	12	8	2	3	rs377468764		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr21:46705777G>A	ENST00000349485.5	-	2	224	c.198C>T	c.(196-198)atC>atT	p.I66I	BX322557.10_ENST00000454115.2_RNA|POFUT2_ENST00000471540.1_5'Flank|POFUT2_ENST00000331343.7_Silent_p.I66I	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	66					fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGAGAGAGGCGATTCGGATAT	0.572																																						ENST00000331343.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20						c.(196-198)atC>atT		protein O-fucosyltransferase 2		G	,	0,4406		0,0,2203	86	93	91		198,198	-9.3	0	21		91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	POFUT2	NM_015227.4,NM_133635.4	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	66/425,66/430	46705777	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23275				fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	g.chr21:46705777G>A	AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"Fucosyltransferases"	14683	protein-coding gene	gene with protein product	"peptide-O-fucosyltransferase", "GDP-fucose protein O-fucosyltransferase 2"	610249	"chromosome 21 open reading frame 80"	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.198C>T	21.37:g.46705777G>A						POFUT2_ENST00000349485.5_Silent_p.I66I	p.I66I	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN		Colorectal(79;0.243)	2	224	-			66					Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Silent	SNP	ENST00000349485.5	37	c.198C>T	CCDS13719.1																																																																																				0.572	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	NM_015227		5	511	0	0	0	1	0	5	511					A	46705777	G	A	46705777	2	1	83	1	0	0	0	0	0	0	0	1	12226	1048	37	1		1	POFUT2	21	46705777	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	8436597	46705777	1424118	130	32540											
SEPT5	5413	broad.mit.edu	37	chr22	19707654	19707654	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagagcgcatcagccagacGgtagagattctaaaacacac	10	10	2	3	rs200503937		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:19707654G>A	ENST00000455784.2	+	5	380	c.255G>A	c.(253-255)acG>acA	p.T85T	SEPT5_ENST00000406395.1_Silent_p.T85T|SEPT5_ENST00000383045.3_Silent_p.T94T|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Silent_p.T94T	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	85	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)					TCAGCCAGACGGTAGAGATTC	0.592																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(280-282)acG>acA		septin 5		G	,	0,4402		0,0,2201	94	80	85		282,255	-6.1	0.7	22		85	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	SEPT5	NM_001009939.2,NM_002688.5	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	94/347,85/370	19707654	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19707654G>A	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.255G>A	22.37:g.19707654G>A						SEPT5_ENST00000383045.3_Silent_p.T94T|SEPT5_ENST00000406395.1_Silent_p.T85T|SEPT5_ENST00000455784.2_Silent_p.T85T	p.T94T	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			4	562	+	Colorectal(54;0.0993)		85					O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	c.282G>A	CCDS13764.1																																																																																				0.592	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		4	191	0	0	0	1	0	4	191					A	19707654	G	A	19707654	2	1	83	1	0	0	0	0	0	0	0	1	14117	1103	39	1		1	SEPT5	22	19707654	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08		19707654	31596912	131	32541											
SUSD2	56241	broad.mit.edu	37	chr22	24579549	24579549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctctatgagagcggccGcatccccttcactgtgtcac	9	15	4	1	rs370061442		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chr22:24579549G>A	ENST00000358321.3	+	3	635	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	125					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						GAGAGCGGCCGCATCCCCTTC	0.647																																						ENST00000358321.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						c.(373-375)cGc>cAc		sushi domain containing 2		G	HIS/ARG	0,4406		0,0,2203	112	96	101		374	-2.8	0.4	22		101	1,8599	1.2+/-3.3	0,1,4299	no	missense	SUSD2	NM_019601.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	125/823	24579549	1,13005	2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579549G>A	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.374G>A	22.37:g.24579549G>A	ENSP00000351075:p.Arg125His						p.R125H	NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN			3	635	+			125					Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.374G>A	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176100	0.21704	0.0	1.16E-4	ENSG00000099994	ENST00000358321	T	0.07800	3.16	3.5	-2.78	0.05859	.	0.909157	0.09560	N	0.785759	T	0.04003	0.0112	N	0.25426	0.745	0.20489	N	0.999894	B	0.12630	0.006	B	0.04013	0.001	T	0.46527	-0.9185	10	0.17369	T	0.5	-15.4335	0.6009	0.00744	0.378:0.1723:0.2747:0.175	.	125	Q9UGT4	SUSD2_HUMAN	H	125	ENSP00000351075:R125H	ENSP00000351075:R125H	R	+	2	0	SUSD2	22909549	0.043000	0.20138	0.359000	0.25824	0.847000	0.48162	0.265000	0.18515	-0.438000	0.07232	0.449000	0.29647	CGC		0.647	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		6	356	0	0	0	1	0	6	356					A	24579549	G	A	24579549	3	1	83	1	0	0	0	0	1	0	0	0	15460	1087	38	1	384	1	SUSD2	22	24579549	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	4871895	24579549	26725017	132	32542											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	273	0	0	0	1	0	6	273					G	37028425	A	G	37028425	3	3	83	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IB-A5SO-01A-11D-A32N-08		37028425	118242135	133	32543											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	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.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		8	131						8	131	---	---	---	---	-	70360682	GCA	-	70360680	7	5	83	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-IB-A5SO-01A-11D-A32N-08	33332255	70360680	84909880	134	32544											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	165	0	0	0	1	0	5	165					C	73811938	G	C	73811938	2	2	83	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	3451258	73811938	81458622	135	32545											
SPANXD	64648	broad.mit.edu	37	chrX	140785682	140785682	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctccatttggaggggGttgattctgttctttcgggc	12	10	2	1			TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:140785682G>C	ENST00000370515.3	-	2	567	c.234C>G	c.(232-234)aaC>aaG	p.N78K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	78						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(232-234)aaC>aaG		SPANX family, member D							194	171	179					X																	140785682		2199	4273	6472	SO:0001583	missense	64648							g.chrX:140785682G>C	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.234C>G	X.37:g.140785682G>C	ENSP00000359546:p.Asn78Lys						p.N78K	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	567	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.234C>G	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	8.302	0.820191	0.16678	.	.	ENSG00000196406	ENST00000370515	T	0.09445	2.98	.	.	.	.	.	.	.	.	T	0.25457	0.0619	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.06789	-1.0807	6	0.72032	D	0.01	.	.	.	.	.	78	Q9BXN6	SPNXD_HUMAN	K	78	ENSP00000359546:N78K	ENSP00000359546:N78K	N	-	3	2	SPANXD	140613348	0.055000	0.20627	0.048000	0.18961	0.048000	0.14542	0.075000	0.14686	0.068000	0.16574	0.068000	0.15388	AAC		0.448	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			50	446	0	0	0	1	0	50	446					C	140785682	G	C	140785682	3	2	83	1	0	0	0	0	1	0	0	0	15040	1252	44	5	63	5	SPANXD	23	140785682	Missense_Mutation	SNP	G	TCGA-IB-A5SO-01A-11D-A32N-08	66973744	140785682	14484878	136	32546											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	523						8	523	---	---	---	---	-	140994641	CTC	-	140994639	7	5	83	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-IB-A5SO-01A-11D-A32N-08	208957	140994639	14275921	137	32547											
BRCC3	79184	broad.mit.edu	37	chrX	154348377	154348379	+	In_Frame_Del	DEL	ACA	ACA	-													caacagcatttgcaggaattAcaacaagaaaaggaagagct							TCGA-IB-A5SO-01A-11D-A32N-08	TCGA-IB-A5SO-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f21270ad-5de6-4066-9e11-f25ed1d27377	72019813-f98e-42f7-a8ca-798553f65d04	g.chrX:154348377_154348379delACA	ENST00000369462.1	+	11	928_930	c.903_905delACA	c.(901-906)ttacaa>tta	p.Q303del	BRCC3_ENST00000340647.4_In_Frame_Del_p.Q279del|BRCC3_ENST00000399042.1_In_Frame_Del_p.Q304del|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_In_Frame_Del_p.Q234del|BRCC3_ENST00000330045.7_In_Frame_Del_p.Q278del	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	303					double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCAGGAATTACAACAAGAAAAG	0.414																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(901-906)tta>tt		BRCA1/BRCA2-containing complex, subunit 3																																				SO:0001651	inframe_deletion	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154348377_154348379delACA	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.903_905delACA	X.37:g.154348380_154348382delACA	ENSP00000358474:p.Gln303del					MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_In_Frame_Del_p.LQ232del|BRCC3_ENST00000330045.7_In_Frame_Del_p.LQ276del|BRCC3_ENST00000399042.1_In_Frame_Del_p.LQ302del|BRCC3_ENST00000340647.4_In_Frame_Del_p.LQ277del	p.LQ301del	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			11	928_930	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		301					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	In_Frame_Del	DEL	ENST00000369462.1	37	c.903_905delACA	CCDS56611.1																																																																																				0.414	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		8	196						8	196	---	---	---	---	-	154348379	ACA	-	154348377	7	5	83	1	0	1	0	1	0	0	0	0	1504	388	14	0	945	0	BRCC3	23	154348377	In_Frame_Del	DEL	ACA	TCGA-IB-A5SO-01A-11D-A32N-08	13353738	154348377	922183	138	32548											
PRDM2	7799	broad.mit.edu	37	chr1	14108213	14108213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatttcagtaccatcaccGtaaccccatggggattggtg	9	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:14108213G>A	ENST00000235372.7	+	8	4779	c.3923G>A	c.(3922-3924)cGt>cAt	p.R1308H	PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1308					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)		TACCATCACCGTAACCCCATG	0.443																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3922-3924)cGt>cAt		PR domain containing 2, with ZNF domain							140	139	139					1																	14108213		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108213G>A	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.3923G>A	1.37:g.14108213G>A	ENSP00000235372:p.Arg1308His					PRDM2_ENST00000413440.1_Missense_Mutation_p.R1107H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R1308H|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.R1107H	p.R1308H	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4779	+	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)	1308					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.3923G>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502016	0.64298	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02050	4.59;4.48;4.48;4.48	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.29908	0.895	0.47037	D	0.999293	D;B;B	0.89917	1.0;0.167;0.257	D;B;B	0.74023	0.982;0.031;0.042	T	0.38672	-0.9650	10	0.87932	D	0	.	10.4416	0.44469	0.1477:0.0:0.8523:0.0	.	1166;1308;1308	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1308;1308;1308;1107;1107	ENSP00000235372:R1308H;ENSP00000312352:R1308H;ENSP00000411103:R1107H;ENSP00000341621:R1107H	ENSP00000235372:R1308H	R	+	2	0	PRDM2	13980800	1.000000	0.71417	0.999000	0.59377	0.823000	0.46562	6.781000	0.75068	1.635000	0.50512	0.655000	0.94253	CGT		0.443	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		6	775	0	0	0	1	0	6	775					A	14108213	G	A	14108213	3	1	84	1	0	0	0	0	1	0	0	0	12505	1145	40	1	3949	1	PRDM2	1	14108213	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		14108213	235142408	1	32549											
MAP3K6	9064	broad.mit.edu	37	chr1	27687469	27687469	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcgccgtggaatccgggttCgtcacccaggcctggatcag	15	13	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:27687469C>T	ENST00000493901.1	-	15	2102	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	MAP3K6_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000374040.3_Silent_p.T613T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	621					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AATCCGGGTTCGTCACCCAGG	0.716																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1837-1839)acG>acA		mitogen-activated protein kinase kinase kinase 6							11	15	14					1																	27687469		2121	4247	6368	SO:0001819	synonymous_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27687469C>T	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1863G>A	1.37:g.27687469C>T						MAP3K6_ENST00000357582.2_Silent_p.T621T|MAP3K6_ENST00000493901.1_Silent_p.T621T	p.T613T			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	13	2099	-		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)	621					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Silent	SNP	ENST00000493901.1	37	c.1839G>A	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407554	0.25378	.	.	ENSG00000142733	ENST00000472410	.	.	.	5.2	-0.331	0.12679	.	.	.	.	.	T	0.20414	0.0491	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	.	1.4977	0.02470	0.1414:0.4258:0.1589:0.2739	.	.	.	.	Q	345	.	.	R	-	2	0	MAP3K6	27560056	0.002000	0.14202	0.955000	0.39395	0.932000	0.56968	-1.018000	0.03626	0.198000	0.20407	0.655000	0.94253	CGA		0.716	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		18	85	0	0	0	1	0	18	85					T	27687469	C	T	27687469	2	4	84	1	0	0	0	0	0	0	0	1	9295	871	31	1		1	MAP3K6	1	27687469	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	13579256	27687469	221563152	2	32550											
MATN1	4146	broad.mit.edu	37	chr1	31188936	31188936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccatgtaggacatattccGcacagccgccttgatgtcct	8	14	0	1	rs201435688		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:31188936G>A	ENST00000373765.4	-	5	1062	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	MATN1-AS1_ENST00000454613.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	343	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		GACATATTCCGCACAGCCGCC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		20286	0.0		0.001	False		,,,				2504	0.0					ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(1027-1029)Cgg>Tgg		matrilin 1, cartilage matrix protein							106	115	112					1																	31188936		2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31188936G>A	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.1027C>T	1.37:g.31188936G>A	ENSP00000362870:p.Arg343Trp					MATN1_ENST00000477320.1_5'UTR	p.R343W	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	5	1062	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	343			VWFA 2.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.1027C>T	CCDS336.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.4	3.990861	0.74703	.	.	ENSG00000162510	ENST00000373765	T	0.79554	-1.28	5.34	0.615	0.17608	von Willebrand factor, type A (3);	.	.	.	.	D	0.88179	0.6367	M	0.78285	2.405	0.35079	D	0.763242	D;D	0.89917	0.999;1.0	D;D	0.68483	0.958;0.958	D	0.91112	0.4923	9	0.72032	D	0.01	-22.2694	14.8171	0.70041	0.0:0.0:0.2392:0.7608	.	327;343	A3KMG0;P21941	.;MATN1_HUMAN	W	343	ENSP00000362870:R343W	ENSP00000362870:R343W	R	-	1	2	MATN1	30961523	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.748000	0.62148	0.193000	0.20303	0.650000	0.86243	CGG		0.592	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		7	540	0	0	0	1	0	7	540					A	31188936	G	A	31188936	3	1	84	1	0	0	0	0	1	0	0	0	9374	1086	38	1	479	1	MATN1	1	31188936	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3501467	31188936	218061685	3	32551											
KIAA0754	643314	broad.mit.edu	37	chr1	39879332	39879332	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caccccagaggagcccgcctCcccagctgctgcagtgccca	10	20	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:39879332C>T	ENST00000530275.1	+	1	3182	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	996	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCCCGCCTCCCCAGCTGCT	0.716																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2986-2988)tCc>tTc		KIAA0754							6	9	8					1																	39879332		1724	3977	5701	SO:0001583	missense	643314							g.chr1:39879332C>T			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2987C>T	1.37:g.39879332C>T	ENSP00000431179:p.Ser996Phe					MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron	p.S996F	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3182	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	996			Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2987C>T		.	.	.	.	.	.	.	.	.	.	C	14.67	2.604289	0.46423	.	.	ENSG00000255103	ENST00000530275	T	0.25579	1.79	4.65	0.39	0.16275	.	.	.	.	.	T	0.24470	0.0593	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.14755	-1.0461	9	0.66056	D	0.02	.	6.2989	0.21101	0.0:0.5477:0.2837:0.1686	.	996	O94854	K0754_HUMAN	F	996	ENSP00000431179:S996F	ENSP00000431179:S996F	S	+	2	0	RP4-562N20.1	39651919	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.461000	0.06712	0.230000	0.21059	0.498000	0.49722	TCC		0.716	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	157	0	0	0	1	0	6	157					T	39879332	C	T	39879332	3	4	84	1	0	0	0	0	1	0	0	0	8222	855	30	2	3397	2	KIAA0754	1	39879332	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	8690396	39879332	209371289	4	32552											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43636461	43636461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcagatttggccatttccGcaaaataatcagtgggtcgc	10	9	2	1	rs202089047	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:43636461G>A	ENST00000236051.2	-	4	554	c.413C>T	c.(412-414)gCg>gTg	p.A138V	EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.A193V|WDR65_ENST00000528956.1_5'Flank|WDR65_ENST00000372492.4_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	138					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)				GGCCATTTCCGCAAAATAATC	0.473													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20448	0.0		0.0	False		,,,				2504	0.001					ENST00000431635.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16						c.(577-579)gCg>gTg		EBNA1 binding protein 2							164	162	162					1																	43636461		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636461G>A	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.413C>T	1.37:g.43636461G>A	ENSP00000236051:p.Ala138Val					EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A138V	p.A193V	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN			5	726	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	138					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.578C>T	CCDS478.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	36	5.636393	0.96693	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.73575	-0.76;-0.76	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.90628	0.7061	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92638	0.6122	10	0.87932	D	0	-12.5207	19.6961	0.96026	0.0:0.0:1.0:0.0	.	138;138	Q6IB29;Q99848	.;EBP2_HUMAN	V	193;138	ENSP00000407323:A193V;ENSP00000236051:A138V	ENSP00000236051:A138V	A	-	2	0	EBNA1BP2	43409048	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.271000	0.95698	2.745000	0.94114	0.650000	0.86243	GCG		0.473	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1			6	825	0	0	0	1	0	6	825					A	43636461	G	A	43636461	3	1	84	1	0	0	0	0	1	0	0	0	4901	1087	38	1	531	1	EBNA1BP2	1	43636461	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3757129	43636461	205614160	5	32553											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			8	898						8	898	---	---	---	---	-	74957826	CTT	-	74957824	6	5	84	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-IB-A5SP-01A-11D-A32N-08	31321363	74957824	174292797	6	32554											
CELSR2	1952	broad.mit.edu	37	chr1	109792751	109792751	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgccgccgccgccgcTgctgctgctgttgctgctgc	12	19	0	0	rs200277265		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109792751T>C	ENST00000271332.3	+	1	111	c.50T>C	c.(49-51)cTg>cCg	p.L17P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	17					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)		ccgccgccgctgctgctgctg	0.751																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(49-51)cTg>cCg		cadherin, EGF LAG seven-pass G-type receptor 2							8	10	9					1																	109792751		1799	3668	5467	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792751T>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.50T>C	1.37:g.109792751T>C	ENSP00000271332:p.Leu17Pro						p.L17P	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	111	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	17					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.50T>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	5.977	0.364215	0.11296	.	.	ENSG00000143126	ENST00000271332	T	0.70631	-0.5	4.25	-3.77	0.04346	.	.	.	.	.	T	0.20251	0.0487	N	0.08118	0	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.13098	-1.0522	8	0.51188	T	0.08	.	1.1702	0.01823	0.161:0.339:0.1649:0.3351	.	17	Q9HCU4	CELR2_HUMAN	P	17	ENSP00000271332:L17P	ENSP00000271332:L17P	L	+	2	0	CELSR2	109594274	0.000000	0.05858	0.003000	0.11579	0.062000	0.15995	-0.618000	0.05578	-0.422000	0.07405	0.404000	0.27445	CTG		0.751	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	174	0	0	0	1	0	5	174					C	109792751	T	C	109792751	3	2	84	1	0	0	0	0	1	0	0	0	3231	1580	55	4	52	4	CELSR2	1	109792751	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	34834927	109792751	139457870	7	32555											
CELSR2	1952	broad.mit.edu	37	chr1	109792762	109792762	+	Silent	SNP	T	T	C													cgccgccgctgctgctgctgTtgctgctgctgctgccgccg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109792762T>C	ENST00000271332.3	+	1	122	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	21					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)		gctgctgctgttgctgctgct	0.746																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(61-63)Ttg>Ctg		cadherin, EGF LAG seven-pass G-type receptor 2							9	11	11					1																	109792762		1973	3925	5898	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792762T>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.61T>C	1.37:g.109792762T>C							p.L21L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	122	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	21					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.61T>C	CCDS796.1																																																																																				0.746	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	206	0	0	0	1	0	5	206					C	109792762	T	C	109792762	2	2	84	1	0	0	0	0	0	0	0	1	3231	1722	60	4		4	CELSR2	1	109792762	Silent	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	11	109792762	139457859	8	32556	211	2									
CELSR2	1952	broad.mit.edu	37	chr1	109792765	109792765	+	Silent	SNP	C	C	T													cgccgctgctgctgctgttgCtgctgctgctgccgccgcca							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109792765C>T	ENST00000271332.3	+	1	125	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	22					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)		gctgctgttgctgctgctgct	0.746																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(64-66)Ctg>Ttg		cadherin, EGF LAG seven-pass G-type receptor 2							9	12	11					1																	109792765		2003	3967	5970	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109792765C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.64C>T	1.37:g.109792765C>T							p.L22L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	125	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	22					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.64C>T	CCDS796.1																																																																																				0.746	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	210	0	0	0	1	0	5	210					T	109792765	C	T	109792765	2	4	84	1	0	0	0	0	0	0	0	1	3231	796	28	2		2	CELSR2	1	109792765	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	3	109792765	139457856	9	32557	211	2									
CELSR2	1952	broad.mit.edu	37	chr1	109795748	109795748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtccgcctccttgaccGcaatgacaacccaccagtgc	7	19	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:109795748G>A	ENST00000271332.3	+	1	3108	c.3047G>A	c.(3046-3048)cGc>cAc	p.R1016H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1016	Cadherin 8. {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)		CTCCTTGACCGCAATGACAAC	0.577																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3046-3048)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							82	79	80					1																	109795748		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795748G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3047G>A	1.37:g.109795748G>A	ENSP00000271332:p.Arg1016His						p.R1016H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3108	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1016			Cadherin 8.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3047G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	14.76	2.632907	0.47049	.	.	ENSG00000143126	ENST00000271332	T	0.60424	0.19	4.92	4.92	0.64577	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.30386	0.0763	L	0.36672	1.1	0.35802	D	0.82319	P	0.51240	0.943	B	0.43194	0.411	T	0.38001	-0.9681	9	0.42905	T	0.14	.	4.3406	0.11108	0.1982:0.1982:0.6036:0.0	.	1016	Q9HCU4	CELR2_HUMAN	H	1016	ENSP00000271332:R1016H	ENSP00000271332:R1016H	R	+	2	0	CELSR2	109597271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.726000	0.38085	2.591000	0.87537	0.650000	0.86243	CGC		0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	398	0	0	0	1	0	5	398					A	109795748	G	A	109795748	3	1	84	1	0	0	0	0	1	0	0	0	3231	1087	38	1	3049	1	CELSR2	1	109795748	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	2983	109795748	139454873	10	32558											
KCNA3	3738	broad.mit.edu	37	chr1	111216789	111216789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccacacctggcgctggaagtCgcggcggggcaagggccgct	17	14	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:111216789C>T	ENST00000369769.2	-	1	866	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	215					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)	CGCTGGAAGTCGCGGCGGGGC	0.682																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(643-645)Gac>Aac		potassium voltage-gated channel, shaker-related subfamily, member 3							36	44	41					1																	111216789		2200	4283	6483	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216789C>T	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.643G>A	1.37:g.111216789C>T	ENSP00000358784:p.Asp215Asn						p.D215N	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		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)	1	866	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	215					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.643G>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180330	0.57800	.	.	ENSG00000177272	ENST00000369769	D	0.96830	-4.14	4.8	3.87	0.44632	.	0.844686	0.10366	U	0.683427	D	0.89332	0.6685	L	0.28192	0.835	0.41461	D	0.988045	P	0.34699	0.464	B	0.28849	0.095	D	0.85442	0.1155	10	0.87932	D	0	.	14.8698	0.70448	0.0:0.8552:0.1448:0.0	.	215	P22001	KCNA3_HUMAN	N	215	ENSP00000358784:D215N	ENSP00000358784:D215N	D	-	1	0	KCNA3	111018312	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	4.873000	0.63057	0.986000	0.38683	0.561000	0.74099	GAC		0.682	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		14	482	0	0	0	1	0	14	482					T	111216789	C	T	111216789	3	4	84	1	0	0	0	0	1	0	0	0	8034	884	31	1	1088	1	KCNA3	1	111216789	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1421041	111216789	138033832	11	32559											
HRNR	388697	broad.mit.edu	37	chr1	152192080	152192080	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagacccatgttggccGtagctggaagagtgcccaaa	13	11	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152192080G>A	ENST00000368801.2	-	3	2100	c.2025C>T	c.(2023-2025)taC>taT	p.Y675Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	675					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)			CATGTTGGCCGTAGCTGGAAG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2023-2025)taC>taT		hornerin							127	139	135					1																	152192080		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192080G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2025C>T	1.37:g.152192080G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Y675Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2100	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		675					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2025C>T	CCDS30859.1																																																																																				0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		6	903	0	0	0	1	0	6	903					A	152192080	G	A	152192080	2	1	84	1	0	0	0	0	0	0	0	1	7389	1140	40	1		1	HRNR	1	152192080	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	40975291	152192080	97058541	12	32560											
FLG2	388698	broad.mit.edu	37	chr1	152327955	152327955	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagaactgtgttggccataGctagactgacctgatctaga	10	10	1	5			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	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)	p.S769S(1)		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)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412	337	362					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1407	0	0	0	1	0	9	1407					A	152327955	G	A	152327955	2	1	84	1	0	0	0	0	0	0	0	1	5948	962	34	2		2	FLG2	1	152327955	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	135875	152327955	96922666	13	32561											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	340	0	0	0	1	0	7	340					T	153907309	C	T	153907309	2	4	84	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1579354	153907309	95343312	14	32562											
BCAN	63827	broad.mit.edu	37	chr1	156626160	156626160	+	Frame_Shift_Del	DEL	G	G	-													gcctatgtctgcctggctatGggggggacctgtgcgatgtt					rs571106745		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:156626160delG	ENST00000329117.5	+	9	2365	c.2029delG	c.(2029-2031)gggfs	p.G678fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	678	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGGCTATGGGGGGGACCT	0.622																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2029-2031)ggfs		brevican							84	76	79					1																	156626160		2203	4300	6503	SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626160delG	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.2029delG	1.37:g.156626160delG	ENSP00000331210:p.Gly678fs					RP11-284F21.7_ENST00000448869.1_RNA	p.G678fs	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			9	2365	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		678			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Del	DEL	ENST00000329117.5	37	c.2029delG	CCDS1149.1																																																																																				0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	898						8	898	---	---	---	---	-	156626160	G	-	156626160	7	5	84	1	0	1	0	1	0	0	0	0	1346	1348	47	0	2133	0	BCAN	1	156626160	Frame_Shift_Del	DEL	G	TCGA-IB-A5SP-01A-11D-A32N-08	2718851	156626160	92624461	15	32563											
RGL1	23179	broad.mit.edu	37	chr1	183885789	183885789	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagacacctgcataatccGcatcagtgtggaagacaata	9	9	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:183885789G>A	ENST00000360851.3	+	16	2136	c.1958G>A	c.(1957-1959)cGc>cAc	p.R653H	RGL1_ENST00000536277.1_Missense_Mutation_p.R651H|RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000304685.4_Missense_Mutation_p.R688H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	653	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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						TGCATAATCCGCATCAGTGTG	0.498																																						ENST00000304685.3																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(2062-2064)cGc>cAc		ral guanine nucleotide dissociation stimulator-like 1							123	117	119					1																	183885789		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183885789G>A	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.1958G>A	1.37:g.183885789G>A	ENSP00000354097:p.Arg653His					RGL1_ENST00000536277.1_Missense_Mutation_p.R651H|RGL1_ENST00000360851.3_Missense_Mutation_p.R653H|RGL1_ENST00000539189.1_Missense_Mutation_p.R624H|RGL1_ENST00000367531.1_Missense_Mutation_p.R688H	p.R688H	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN			17	2524	+			653			Ras-associating.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.2063G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.454279	0.96223	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.43	5.43	0.79202	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.58221	0.2107	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.998	T	0.64567	-0.6377	10	0.87932	D	0	.	18.8583	0.92262	0.0:0.0:1.0:0.0	.	624;651;653;688	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	688;688;651;653;624	ENSP00000303192:R688H;ENSP00000356501:R688H;ENSP00000438662:R651H;ENSP00000354097:R653H;ENSP00000437355:R624H	ENSP00000303192:R688H	R	+	2	0	RGL1	182152412	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.401000	0.97294	2.555000	0.86185	0.650000	0.86243	CGC		0.498	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		5	380	0	0	0	1	0	5	380					A	183885789	G	A	183885789	3	1	84	1	0	0	0	0	1	0	0	0	13326	1087	38	1	2125	1	RGL1	1	183885789	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	27259629	183885789	65364832	16	32564											
HMCN1	83872	broad.mit.edu	37	chr1	185892601	185892601	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	cttcttgaacttttgagtatCtcaggaagttctcttaagac	7	8	3	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:185892601C>G	ENST00000271588.4	+	8	1330	c.1101C>G	c.(1099-1101)atC>atG	p.I367M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	367					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						TTTTGAGTATCTCAGGAAGTT	0.353																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1099-1101)atC>atG		hemicentin 1							90	89	89					1																	185892601		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185892601C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1101C>G	1.37:g.185892601C>G	ENSP00000271588:p.Ile367Met					HMCN1_ENST00000367492.2_Missense_Mutation_p.I367M	p.I367M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			8	1330	+			367					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1101C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318610	0.60524	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64438	-0.1;-0.1	5.4	3.43	0.39272	.	0.260319	0.43579	D	0.000544	T	0.53753	0.1816	L	0.47716	1.5	0.33535	D	0.594146	P	0.43169	0.8	B	0.42462	0.388	T	0.61850	-0.6978	10	0.34782	T	0.22	.	8.7355	0.34525	0.2826:0.6415:0.0:0.0759	.	367	Q96RW7	HMCN1_HUMAN	M	367	ENSP00000271588:I367M;ENSP00000356462:I367M	ENSP00000271588:I367M	I	+	3	3	HMCN1	184159224	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.005000	0.49521	0.558000	0.29135	0.655000	0.94253	ATC		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	212	0	0	0	1	0	7	212					G	185892601	C	G	185892601	3	3	84	1	0	0	0	0	1	0	0	0	7250	903	32	5	1131	5	HMCN1	1	185892601	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2006812	185892601	63358020	17	32565											
KDM5B	10765	broad.mit.edu	37	chr1	202702804	202702804	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaaagccagattcgcaggcCctgtgaaatactgggtaccg	11	11	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:202702804C>A	ENST00000367265.3	-	23	4798	c.3634G>T	c.(3634-3636)Ggc>Tgc	p.G1212C	KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1212					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						ATTCGCAGGCCCTGTGAAATA	0.542																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3634-3636)Ggc>Tgc		lysine (K)-specific demethylase 5B							52	53	53					1																	202702804		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202702804C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3634G>T	1.37:g.202702804C>A	ENSP00000356234:p.Gly1212Cys					KDM5B_ENST00000367264.2_Missense_Mutation_p.G1248C	p.G1212C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			23	4798	-			1212					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.3634G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391676	0.62066	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.88046	-2.33;-2.33;-2.33	6.09	4.15	0.48705	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);	0.449783	0.28871	N	0.013866	D	0.91036	0.7180	M	0.91140	3.18	0.33999	D	0.650031	P;P	0.49696	0.927;0.814	P;P	0.49276	0.605;0.563	D	0.93343	0.6711	10	0.56958	D	0.05	-5.713	9.9016	0.41351	0.0:0.8245:0.0:0.1755	.	1248;1212	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	C	1212;1054;1248;1054	ENSP00000356234:G1212C;ENSP00000356233:G1248C;ENSP00000235790:G1054C	ENSP00000235790:G1054C	G	-	1	0	KDM5B	200969427	0.432000	0.25554	0.011000	0.14972	0.797000	0.45037	0.847000	0.27696	0.798000	0.33994	0.643000	0.83706	GGC		0.542	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		135	143	1	0	1.22322e-63	1	1.31496e-63	135	143					A	202702804	C	A	202702804	3	1	84	1	0	0	0	0	1	0	0	0	8164	623	22	3	1020	3	KDM5B	1	202702804	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16810203	202702804	46547817	18	32566											
CR1L	1379	broad.mit.edu	37	chr1	207867814	207867814	+	Frame_Shift_Del	DEL	A	A	-													gcaatcttggaagcagagggAaaaaggtgtttgagcttgtg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:207867814delA	ENST00000508064.2	+	5	640	c.580delA	c.(580-582)aaafs	p.K195fs	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	195	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGCAGAGGGAAAAAGGTGTT	0.507																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(580-582)aafs		complement component (3b/4b) receptor 1-like							215	196	202					1																	207867814		1922	4144	6066	SO:0001589	frameshift_variant	1379					cytoplasm|extracellular region|membrane		g.chr1:207867814delA	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.580delA	1.37:g.207867814delA	ENSP00000421736:p.Lys195fs					CR1L_ENST00000530905.1_Intron	p.K195fs	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			5	640	+			195			Sushi 3.		Q32MC9|Q8NEU7	Frame_Shift_Del	DEL	ENST00000508064.2	37	c.580delA	CCDS44310.1																																																																																				0.507	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		9	849						9	849	---	---	---	---	-	207867814	A	-	207867814	7	5	84	1	0	1	0	1	0	0	0	0	3850	247	9	0	598	0	CR1L	1	207867814	Frame_Shift_Del	DEL	A	TCGA-IB-A5SP-01A-11D-A32N-08	5165010	207867814	41382807	19	32567											
USH2A	7399	broad.mit.edu	37	chr1	215933091	215933091	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccattacgactcaattgataTtgagaaacgaggccattggg	10	8	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:215933091T>C	ENST00000307340.3	-	57	11528	c.11142A>G	c.(11140-11142)caA>caG	p.Q3714Q	USH2A_ENST00000366943.2_Silent_p.Q3714Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3714	Fibronectin type-III 22. {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)		TCAATTGATATTGAGAAACGA	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11140-11142)caA>caG		Usher syndrome 2A (autosomal recessive, mild)							112	107	109					1																	215933091		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215933091T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11142A>G	1.37:g.215933091T>C		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.Q3714Q	p.Q3714Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	57	11528	-			3714			Fibronectin type-III 22.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.11142A>G	CCDS31025.1																																																																																				0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		112	312	0	0	0	1	0	112	312					C	215933091	T	C	215933091	2	2	84	1	0	0	0	0	0	0	0	1	17090	1490	52	4		4	USH2A	1	215933091	Silent	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	8065277	215933091	33317530	20	32568											
FMN2	56776	broad.mit.edu	37	chr1	240371436	240371436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacccggagtgggcataccTcctccgccccctctacccgg	9	20	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:240371436T>C	ENST00000319653.9	+	5	3554	c.3324T>C	c.(3322-3324)ccT>ccC	p.P1108P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1108	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.P1251P(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)			TGGGCATACCTCCTCCGCCCC	0.731																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.P1251P(1)	lung(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						c.(3322-3324)ccT>ccC		formin 2							8	11	10					1																	240371436		2057	4147	6204	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371436T>C	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.3324T>C	1.37:g.240371436T>C							p.P1108P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3554	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1108			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3324T>C	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	96	0	0	0	1	0	4	96					C	240371436	T	C	240371436	2	2	84	1	0	0	0	0	0	0	0	1	5975	1538	54	4		4	FMN2	1	240371436	Silent	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	24438345	240371436	8879185	21	32569											
PLD5	200150	broad.mit.edu	37	chr1	242253380	242253380	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaggcccgtgccagcattctGagtgaaatcattccctaccc	8	14	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:242253380G>C	ENST00000536534.2	-	10	1628	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E|PLD5_ENST00000442594.2_Missense_Mutation_p.Q371E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	463						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)			CCAGCATTCTGAGTGAAATCA	0.398																																						ENST00000442594.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1111-1113)Cag>Gag		phospholipase D family, member 5							120	115	117					1																	242253380		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253380G>C	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.1387C>G	1.37:g.242253380G>C	ENSP00000440896:p.Gln463Glu					PLD5_ENST00000427495.1_Missense_Mutation_p.Q401E|PLD5_ENST00000536534.1_Missense_Mutation_p.Q463E	p.Q371E	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		11	1620	-	Melanoma(84;0.242)		463					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1111C>G	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.505959	0.00992	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.22134	1.97;1.97;1.97	5.77	5.77	0.91146	.	0.137275	0.53938	D	0.000055	T	0.16599	0.0399	L	0.49126	1.545	0.30380	N	0.782052	B;P;B	0.39250	0.372;0.665;0.372	B;B;B	0.32677	0.15;0.119;0.15	T	0.10870	-1.0611	10	0.08837	T	0.75	-7.7223	13.5982	0.62002	0.0:0.0:0.8451:0.1548	.	371;463;401	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	401;371;463	ENSP00000401285:Q401E;ENSP00000414188:Q371E;ENSP00000440896:Q463E	ENSP00000401285:Q401E	Q	-	1	0	PLD5	240320003	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	3.937000	0.56575	2.723000	0.93209	0.655000	0.94253	CAG		0.398	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		125	294	0	0	0	1	0	125	294					C	242253380	G	C	242253380	3	2	84	1	0	0	0	0	1	0	0	0	12091	1299	45	5	227	5	PLD5	1	242253380	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1881944	242253380	6997241	22	32570											
SDCCAG8	10806	broad.mit.edu	37	chr1	243456473	243456473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaccattttcccatgaCaatgcagattttggcaaagc	7	9	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:243456473C>T	ENST00000366541.3	+	6	745	c.627C>T	c.(625-627)gaC>gaT	p.D209D	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Silent_p.D209D|SDCCAG8_ENST00000343783.6_Silent_p.D64D|SDCCAG8_ENST00000355875.4_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	209					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)		TTTCCCATGACAATGCAGATT	0.403																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(625-627)gaC>gaT		serologically defined colon cancer antigen 8							96	96	96					1																	243456473		2203	4300	6503	SO:0001819	synonymous_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243456473C>T	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.627C>T	1.37:g.243456473C>T						SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Silent_p.D64D|SDCCAG8_ENST00000391846.1_Silent_p.D209D	p.D209D	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	6	745	+	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)	209					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Silent	SNP	ENST00000366541.3	37	c.627C>T	CCDS31075.1																																																																																				0.403	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		7	387	0	0	0	1	0	7	387					T	243456473	C	T	243456473	2	4	84	1	0	0	0	0	0	0	0	1	14009	477	17	2		2	SDCCAG8	1	243456473	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1203093	243456473	5794148	23	32571											
OR2T3	343173	broad.mit.edu	37	chr1	248637216	248637216	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgtgagactcctgccCtgctgaagctctcctgctct	8	14	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr1:248637216C>A	ENST00000359594.2	+	1	590	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACTCCTGCCCTGCTGAAGCT	0.512																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(565-567)Ctg>Atg		olfactory receptor, family 2, subfamily T, member 3							106	91	96					1																	248637216		2168	4270	6438	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637216C>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.565C>A	1.37:g.248637216C>A	ENSP00000352604:p.Leu189Met						p.L189M	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	590	+	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)		189					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.565C>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	7.761	0.705426	0.15172	.	.	ENSG00000196539	ENST00000359594	T	0.00224	8.51	2.37	-4.74	0.03249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.58354	1.805	0.09310	N	1	P	0.46142	0.873	B	0.43360	0.417	T	0.14868	-1.0457	9	0.24483	T	0.36	.	6.2171	0.20661	0.0:0.3597:0.2818:0.3585	.	189	Q8NH03	OR2T3_HUMAN	M	189	ENSP00000352604:L189M	ENSP00000352604:L189M	L	+	1	2	OR2T3	246703839	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-4.147000	0.00285	-1.359000	0.02174	0.186000	0.17326	CTG		0.512	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		7	832	1	0	7.03913e-09	1	7.34666e-09	7	832					A	248637216	C	A	248637216	3	1	84	1	0	0	0	0	1	0	0	0	11065	680	24	3	567	3	OR2T3	1	248637216	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	5180743	248637216	613405	24	32572											
SOX11	6664	broad.mit.edu	37	chr2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-													agtgcgtgtttctggatgagGacgacgacgacgacgacgac							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC107057.2_ENST00000458264.1_RNA|AC010729.1_ENST00000455579.2_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	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																																						ENST00000322002.3																			0				central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13						c.(673-675)del		SRY (sex determining region Y)-box 11				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	6664				cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	g.chr2:5833526_5833528delGAC		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						p.D233del	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.132)	1	728_730	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		233			Poly-Asp.		Q4ZFV8	In_Frame_Del	DEL	ENST00000322002.3	37	c.673_675delGAC	CCDS1654.1																																																																																				0.7	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108		7	150						7	150	---	---	---	---	-	5833528	GAC	-	5833526	7	5	84	1	0	1	0	1	0	0	0	0	14992	1174	41	0	675	0	SOX11	2	5833526	In_Frame_Del	DEL	GAC	TCGA-IB-A5SP-01A-11D-A32N-08		5833526	237365847	25	32573											
POMC	5443	broad.mit.edu	37	chr2	25387630	25387630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccccgagcggctgcagcaCgatctcggcatcttccaggc	12	17	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:25387630C>T	ENST00000405623.1	-	2	467	c.12G>A	c.(10-12)tcG>tcA	p.S4S	POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000264708.3_Silent_p.S4S			P01189	COLI_HUMAN	proopiomelanocortin	4					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GGCTGCAGCACGATCTCGGCA	0.607																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(10-12)tcG>tcA		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						37	40	39					2																	25387630		2201	4299	6500	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25387630C>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"Endogenous ligands"	9201	protein-coding gene	gene with protein product	"adrenocorticotropin", "beta-lipotropin", "alpha-melanocyte stimulating hormone", "beta-melanocyte stimulating hormone", "beta-endorphin", "adrenocorticotropic hormone", "opiomelanocortin prepropeptide"	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.12G>A	2.37:g.25387630C>T						POMC_ENST00000395826.2_Silent_p.S4S|POMC_ENST00000380794.1_Silent_p.S4S|POMC_ENST00000264708.3_Silent_p.S4S	p.S4S			P01189	COLI_HUMAN			2	467	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.12G>A	CCDS1717.1																																																																																				0.607	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		6	366	0	0	0	1	0	6	366					T	25387630	C	T	25387630	2	4	84	1	0	0	0	0	0	0	0	1	12284	523	19	1		1	POMC	2	25387630	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19554104	25387630	217811743	26	32574											
DPYSL5	56896	broad.mit.edu	37	chr2	27121503	27121503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgcgagctcatgatccctGgcggggccaaggtgattgat	15	11	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:27121503G>A	ENST00000288699.6	+	2	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	46					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGATCCCTGGCGGGGCCAA	0.587																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(136-138)Ggc>Agc		dihydropyrimidinase-like 5							99	84	89					2																	27121503		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27121503G>A	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.136G>A	2.37:g.27121503G>A	ENSP00000288699:p.Gly46Ser					DPYSL5_ENST00000401478.1_Missense_Mutation_p.G46S	p.G46S	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			2	294	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		46					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.136G>A	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728087	0.89390	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.85258	-1.06;-1.96;-1.96;-1.06;-1.06	4.85	4.85	0.62838	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	L	0.33485	1.01	0.58432	D	0.999992	B	0.30937	0.301	B	0.28139	0.086	T	0.77253	-0.2656	10	0.37606	T	0.19	-13.6077	17.1086	0.86669	0.0:0.0:1.0:0.0	.	46	Q9BPU6	DPYL5_HUMAN	S	46	ENSP00000407174:G46S;ENSP00000288699:G46S;ENSP00000385549:G46S;ENSP00000399581:G46S;ENSP00000413075:G46S	ENSP00000288699:G46S	G	+	1	0	DPYSL5	26975007	1.000000	0.71417	0.504000	0.27639	0.986000	0.74619	9.333000	0.96459	2.403000	0.81681	0.561000	0.74099	GGC		0.587	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		4	313	0	0	0	1	0	4	313					A	27121503	G	A	27121503	3	1	84	1	0	0	0	0	1	0	0	0	4766	1348	47	2	138	2	DPYSL5	2	27121503	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1733873	27121503	216077870	27	32575											
MGAT5	4249	broad.mit.edu	37	chr2	135012053	135012053	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cttttggcttcatttggggtAtgatgcttctgcactttacc	9	9	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:135012053A>G	ENST00000409645.1	+	2	331	c.79A>G	c.(79-81)Atg>Gtg	p.M27V	MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	27					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)		CATTTGGGGTATGATGCTTCT	0.522																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(79-81)Atg>Gtg		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							130	111	118					2																	135012053		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135012053A>G	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.79A>G	2.37:g.135012053A>G	ENSP00000386377:p.Met27Val					MGAT5_ENST00000281923.2_Missense_Mutation_p.M27V|MGAT5_ENST00000468758.1_3'UTR	p.M27V			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	2	331	+			27					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.79A>G	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435716	0.62955	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.38531	1.155	0.80722	D	1	P	0.43578	0.811	P	0.60789	0.879	T	0.56541	-0.7962	9	0.16420	T	0.52	-29.1494	14.9292	0.70903	1.0:0.0:0.0:0.0	.	27	Q09328	MGT5A_HUMAN	V	27	.	ENSP00000281923:M27V	M	+	1	0	MGAT5	134728523	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	9.087000	0.94110	2.162000	0.67917	0.528000	0.53228	ATG		0.522	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		75	134	0	0	0	1	0	75	134					G	135012053	A	G	135012053	3	3	84	1	0	0	0	0	1	0	0	0	9589	449	16	4	81	4	MGAT5	2	135012053	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	107890550	135012053	108187320	28	32576											
SCN2A	6326	broad.mit.edu	37	chr2	166171996	166171996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaggcggcagctgcagccGcatctgctgaatcaagagac	12	12	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:166171996G>A	ENST00000375437.2	+	11	1689	c.1399G>A	c.(1399-1401)Gca>Aca	p.A467T	SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000357398.3_Missense_Mutation_p.A467T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	467					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)	AGCTGCAGCCGCATCTGCTGA	0.408																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1399-1401)Gca>Aca		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						59	66	64					2																	166171996		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166171996G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1399G>A	2.37:g.166171996G>A	ENSP00000364586:p.Ala467Thr					SCN2A_ENST00000375437.2_Missense_Mutation_p.A467T|SCN2A_ENST00000375427.2_Missense_Mutation_p.A467T|SCN2A_ENST00000283256.6_Missense_Mutation_p.A467T	p.A467T			Q99250	SCN2A_HUMAN			11	1689	+			467					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.1399G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650394	0.29336	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96427	-4.01;-3.95;-3.95;-3.95;-3.95	5.9	5.02	0.67125	.	0.539045	0.18025	N	0.154104	D	0.93360	0.7883	L	0.40543	1.245	0.49483	D	0.999793	B;B	0.21520	0.055;0.057	B;B	0.19666	0.026;0.013	D	0.90222	0.4272	10	0.21540	T	0.41	.	15.0639	0.71977	0.0677:0.0:0.9323:0.0	.	467;467	Q99250-2;Q99250	.;SCN2A_HUMAN	T	467	ENSP00000406454:A467T;ENSP00000364586:A467T;ENSP00000349973:A467T;ENSP00000283256:A467T;ENSP00000364576:A467T	ENSP00000283256:A467T	A	+	1	0	SCN2A	165880242	0.994000	0.37717	0.746000	0.31095	0.313000	0.28021	3.124000	0.50461	1.496000	0.48567	0.650000	0.86243	GCA		0.408	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		11	421	0	0	0	1	0	11	421					A	166171996	G	A	166171996	3	1	84	1	0	0	0	0	1	0	0	0	13966	1087	38	1	1533	1	SCN2A	2	166171996	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	31159943	166171996	77027377	29	32577											
SCN7A	6332	broad.mit.edu	37	chr2	167313539	167313540	+	Frame_Shift_Ins	INS	-	-	A													aaaaggaaaacaaaaaacttINSaccaccacaaaaaatatcat							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:167313539_167313540insA	ENST00000409855.1	-	10	1256_1257	c.1130_1131insT	c.(1129-1131)gtafs	p.V377fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	377					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)	ACAAAAAACTTACCACCACAAA	0.347																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1129-1131)gagfs		sodium channel, voltage-gated, type VII, alpha subunit																																				SO:0001589	frameshift_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167313539_167313540insA	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.1131dupT	2.37:g.167313540_167313540dupA	ENSP00000386796:p.Val377fs						p.E377fs	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			10	1256_1257	-			377						Frame_Shift_Ins	INS	ENST00000409855.1	37	c.1130_1131insT	CCDS46442.1																																																																																				0.347	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			50	94						50	94	---	---	---	---	A	167313540	-	A	167313539	7	5	84	1	0	1	1	0	0	0	0	0	13973	1741	61	0	3981	0	SCN7A	2	167313539	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	1141543	167313539	75885834	30	32578											
TTN	7273	broad.mit.edu	37	chr2	179436286	179436286	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaactgtagctgatacaAtttgccaggtggttgtggaa	12	6	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:179436286A>T	ENST00000591111.1	-	276	69874	c.69650T>A	c.(69649-69651)aTt>aAt	p.I23217N	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000589042.1_Missense_Mutation_p.I24858N|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23217	Fibronectin type-III 68. {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)			AGCTGATACAATTTGCCAGGT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(74572-74574)aTt>aAt		titin							86	75	79					2																	179436286		1877	4115	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179436286A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69650T>A	2.37:g.179436286A>T	ENSP00000465570:p.Ile23217Asn					TTN_ENST00000591111.1_Missense_Mutation_p.I23217N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I22290N|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I15985N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I15918N|TTN_ENST00000460472.2_Missense_Mutation_p.I15793N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.I24858N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	74797	-			23217			Fibronectin type-III 81.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74573T>A		.	.	.	.	.	.	.	.	.	.	A	11.56	1.674275	0.29693	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	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	0.53786	0.1818	N	0.14661	0.345	0.51482	D	0.999922	D;D;D;D	0.58970	0.984;0.984;0.984;0.97	P;P;P;P	0.58331	0.837;0.837;0.837;0.828	T	0.61535	-0.7043	9	0.87932	D	0	.	16.3709	0.83357	1.0:0.0:0.0:0.0	.	15793;15918;15985;23217	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	22290;15793;15985;15918;15791	ENSP00000343764:I22290N;ENSP00000434586:I15793N;ENSP00000340554:I15985N;ENSP00000352154:I15918N	ENSP00000340554:I15985N	I	-	2	0	TTN	179144532	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.251000	0.78297	2.261000	0.74972	0.528000	0.53228	ATT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		54	114	0	0	0	1	0	54	114					T	179436286	A	T	179436286	3	4	84	1	0	0	0	0	1	0	0	0	16789	101	4	5	33554	5	TTN	2	179436286	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	12122747	179436286	63763087	31	32579											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	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.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		7	351						7	351	---	---	---	---	-	202352352	T	-	202352352	7	5	84	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	22916066	202352352	40847021	32	32580											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		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.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		16	444						16	444	---	---	---	---	-	227660810	GCT	-	227660808	7	5	84	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-IB-A5SP-01A-11D-A32N-08	25308456	227660808	15538565	33	32581											
ASB18	401036	broad.mit.edu	37	chr2	237103689	237103689	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagagggactggtagaaCggcttgtgcatctggaaggg	17	6	1	2	rs201896139		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr2:237103689C>T	ENST00000409749.3	-	6	1226	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	AC079135.1_ENST00000483218.1_RNA|ASB18_ENST00000330842.6_Silent_p.P380P|AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	409	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ACTGGTAGAACGGCTTGTGCA	0.542																																						ENST00000330842.6																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(1138-1140)ccG>ccA		ankyrin repeat and SOCS box containing 18		C		0,4234		0,0,2117	59	73	68		1227	-6.2	0.1	2		68	3,8487		0,3,4242	yes	coding-synonymous	ASB18	NM_212556.2		0,3,6359	TT,TC,CC		0.0353,0.0,0.0236		409/467	237103689	3,12721	2117	4245	6362	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237103689C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.1227G>A	2.37:g.237103689C>T						ASB18_ENST00000409749.3_Silent_p.P409P|AC079135.1_ENST00000483218.1_RNA|AC079135.1_ENST00000415226.1_RNA	p.P380P			Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	5	1234	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	409					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.1140G>A	CCDS46548.1																																																																																				0.542	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		56	100	0	0	0	1	0	56	100					T	237103689	C	T	237103689	2	4	84	1	0	0	0	0	0	0	0	1	1023	523	19	1		1	ASB18	2	237103689	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	9442881	237103689	6095684	34	32582											
OSBPL10	114884	broad.mit.edu	37	chr3	31789494	31789494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggcagctgagggtggcaGcagaggtagctttcaggagc	17	8	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:31789494G>A	ENST00000396556.2	-	5	970	c.848C>T	c.(847-849)gCt>gTt	p.A283V	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	283					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)		GAGGGTGGCAGCAGAGGTAGC	0.637																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(847-849)gCt>gTt		oxysterol binding protein-like 10							77	72	74					3																	31789494		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31789494G>A	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.848C>T	3.37:g.31789494G>A	ENSP00000379804:p.Ala283Val					OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.A219V	p.A283V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	5	970	-			283					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.848C>T	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000746	0.74818	.	.	ENSG00000144645	ENST00000396556;ENST00000438237;ENST00000428241	T;T;T	0.45276	0.9;0.9;0.9	5.61	4.74	0.60224	.	0.047989	0.85682	D	0.000000	T	0.62962	0.2471	M	0.74881	2.28	0.50171	D	0.999853	D;P;P	0.89917	1.0;0.949;0.901	D;P;P	0.87578	0.998;0.642;0.49	T	0.62320	-0.6879	10	0.30078	T	0.28	-12.5971	14.4653	0.67480	0.0704:0.0:0.9296:0.0	.	219;283;51	B4E212;Q9BXB5;Q59ED9	.;OSB10_HUMAN;.	V	283;219;91	ENSP00000379804:A283V;ENSP00000406124:A219V;ENSP00000399200:A91V	ENSP00000379804:A283V	A	-	2	0	OSBPL10	31764498	1.000000	0.71417	0.295000	0.24960	0.993000	0.82548	9.459000	0.97638	1.367000	0.46095	0.549000	0.68633	GCT		0.637	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			5	508	0	0	0	1	0	5	508					A	31789494	G	A	31789494	3	1	84	1	0	0	0	0	1	0	0	0	11317	971	34	2	1478	2	OSBPL10	3	31789494	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		31789494	166232936	35	32583											
CCR3	1232	broad.mit.edu	37	chr3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-													tgtcagggggcataactgggTttttggccatggcatgtgta							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	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(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181	175	177					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			7	1252						7	1252	---	---	---	---	-	46306948	T	-	46306948	7	5	84	1	0	1	0	1	0	0	0	0	2951	1725	60	0	368	0	CCR3	3	46306948	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	14517454	46306948	151715482	36	32584											
CELSR3	1951	broad.mit.edu	37	chr3	48691126	48691126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgcccgtgtccgaaatgCcagccccaggtaccatggca	11	15	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:48691126C>T	ENST00000164024.4	-	9	5654	c.5374G>A	c.(5374-5376)Gca>Aca	p.A1792T	CELSR3_ENST00000544264.1_Missense_Mutation_p.A1792T	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1792	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCGAAATGCCAGCCCCAGG	0.602																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(5374-5376)Gca>Aca		cadherin, EGF LAG seven-pass G-type receptor 3							109	109	109					3																	48691126		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48691126C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5374G>A	3.37:g.48691126C>T	ENSP00000164024:p.Ala1792Thr					CELSR3_ENST00000164024.4_Missense_Mutation_p.A1792T	p.A1792T			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	9	5654	-			1792			Laminin G-like 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5374G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848196	0.32699	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.78924	-1.22;-1.22	4.88	3.98	0.46160	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	T	0.66982	0.2845	L	0.38531	1.155	0.44373	D	0.997272	B;B	0.27853	0.009;0.191	B;B	0.26770	0.027;0.073	T	0.60687	-0.7214	9	0.14252	T	0.57	.	14.1889	0.65625	0.1554:0.8446:0.0:0.0	.	1792;1862	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	1792	ENSP00000164024:A1792T;ENSP00000445694:A1792T	ENSP00000164024:A1792T	A	-	1	0	CELSR3	48666130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.957000	0.49137	1.216000	0.43427	0.655000	0.94253	GCA		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		5	451	0	0	0	1	0	5	451					T	48691126	C	T	48691126	3	4	84	1	0	0	0	0	1	0	0	0	3232	739	26	2	4672	2	CELSR3	3	48691126	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2384178	48691126	149331304	37	32585											
RNF123	63891	broad.mit.edu	37	chr3	49738081	49738081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacagatccattacctgCggctcactatcgccatcctg	6	17	1	1	rs369371695		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:49738081C>T	ENST00000327697.6	+	15	1360	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	406					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)		CCATTACCTGCGGCTCACTAT	0.607																																						ENST00000327697.6																			0				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						c.(1216-1218)Cgg>Tgg		ring finger protein 123		C	TRP/ARG	0,4406		0,0,2203	114	103	107		1216	3.4	1	3		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNF123	NM_022064.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	406/1315	49738081	1,13005	2203	4300	6503	SO:0001583	missense	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49738081C>T	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.1216C>T	3.37:g.49738081C>T	ENSP00000328287:p.Arg406Trp					RNF123_ENST00000432042.1_Missense_Mutation_p.R260W	p.R406W	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	15	1360	+			406					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.1216C>T	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373157	0.82573	0.0	1.16E-4	ENSG00000164068	ENST00000327697;ENST00000389066;ENST00000432042	T;T	0.76060	-0.7;-0.99	5.26	3.38	0.38709	.	0.575264	0.18160	N	0.149820	T	0.68081	0.2962	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.988	P;P	0.50231	0.635;0.513	T	0.68629	-0.5358	10	0.56958	D	0.05	-11.9117	13.28	0.60208	0.2744:0.7256:0.0:0.0	.	260;406	C9J266;Q5XPI4	.;RN123_HUMAN	W	406;406;260	ENSP00000328287:R406W;ENSP00000392443:R260W	ENSP00000328287:R406W	R	+	1	2	RNF123	49713085	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	3.753000	0.55180	0.541000	0.28827	0.561000	0.74099	CGG		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		6	626	0	0	0	1	0	6	626					T	49738081	C	T	49738081	3	4	84	1	0	0	0	0	1	0	0	0	13483	759	27	1	1270	1	RNF123	3	49738081	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1046955	49738081	148284349	38	32586											
PARP3	10039	broad.mit.edu	37	chr3	51978150	51978152	+	In_Frame_Del	DEL	AAC	AAC	-													tgaaccagaccaacatcgagAacaacaacaacaagttctac							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:51978150_51978152delAAC	ENST00000417220.2	+	4	717_719	c.229_231delAAC	c.(229-231)aacdel	p.N80del	PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	80				N -> K (in Ref. 2; AAD29855). {ECO:0000305}.	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)		CAACATCGAGAACAACAACAACA	0.596																																						ENST00000417220.2																			0				ovary(1)	1						c.(229-231)del		poly (ADP-ribose) polymerase family, member 3			,	10,3992		5,0,1996					,	-7.6	0			201	34,8036		15,4,4016	no	coding,coding	PARP3	NM_005485.4,NM_001003931.2	,	20,4,6012	A1A1,A1R,RR		0.4213,0.2499,0.3645	,	,		44,12028				SO:0001651	inframe_deletion	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978150_51978152delAAC	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.229_231delAAC	3.37:g.51978159_51978161delAAC	ENSP00000395951:p.Asn80del					PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del	p.N80del			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	717_719	+			80	N -> K (in Ref. 2; AAD29855).				Q8NER9|Q96CG2|Q9UG81	In_Frame_Del	DEL	ENST00000417220.2	37	c.229_231delAAC	CCDS43097.1																																																																																				0.596	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		8	959						8	959	---	---	---	---	-	51978152	AAC	-	51978150	7	5	84	1	0	1	0	1	0	0	0	0	11504	246	9	0	260	0	PARP3	3	51978150	In_Frame_Del	DEL	AAC	TCGA-IB-A5SP-01A-11D-A32N-08	2240069	51978150	146044280	39	32587											
EBLN2	55096	broad.mit.edu	37	chr3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A													ttgagctatctgggaaaaacINSagacagtatccactggatgc					rs3832186|rs201649088	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(250-252)agafs	p.R84fs	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.48													A|A|AA|insertion	1036	0.206869	0.1165	0.0908	5008	,	,		18256	0.3542		0.1203	False		,,,				2504	0.3487					ENST00000533473.1																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(247-252)aagacafs		endogenous Bornavirus-like nucleoprotein 2			,	400,3336		31,338,1499					,	0.5	0		dbSNP_107	34	874,7042		44,786,3128	no	intron,frameshift	EBLN2,PPP4R2	NM_174907.2,NM_018029.3	,	75,1124,4627	A1A1,A1R,RR		11.0409,10.7066,10.9337	,	,		1274,10378				SO:0001589	frameshift_variant	55096						protein binding	g.chr3:73111481_73111482insA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.250dupA	3.37:g.73111482_73111482dupA	ENSP00000432104:p.Arg84fs					PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron	p.T84fs	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	672_673	+			84					Q8WWH3|Q9NW89	Frame_Shift_Ins	INS	ENST00000533473.1	37	c.249_250insA	CCDS54608.1																																																																																				0.48	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		16	53						16	53	---	---	---	---	A	73111482	-	A	73111481	7	5	84	1	0	1	1	0	0	0	0	0	4900	477	17	0	251	0	EBLN2	3	73111481	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	21133331	73111481	124910949	40	32588											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	14	9	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*|AC080008.1_ENST00000584173.1_RNA	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132	121	125					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		5	536	0	0	0	1	0	5	536					T	124418865	C	T	124418865	4	4	84	1	0	0	0	0	0	1	0	0	8005	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	51307384	124418865	73603565	41	32589											
MECOM	2122	broad.mit.edu	37	chr3	168833756	168833762	+	Frame_Shift_Del	DEL	TTATTAT	TTATTAT	-													aatgattgctgtattctttcTtattatttattgaagccaga							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:168833756_168833762delTTATTAT	ENST00000464456.1	-	7	2534_2540	c.1334_1340delATAATAA	c.(1333-1341)aataataagfs	p.NNK445fs	MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTATTCTTTCTTATTATTTATTGAAGC	0.348																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1333-1341)agfs		MDS1 and EVI1 complex locus																																				SO:0001589	frameshift_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833756_168833762delTTATTAT	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1334_1340delATAATAA	3.37:g.168833756_168833762delTTATTAT	ENSP00000419770:p.Asn445fs					MECOM_ENST00000433243.2_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.NNK446fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.NNK445fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.NNK510fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.NNK633fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.NNK445fs	p.NNK445fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	2534_2540	-			0					Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000464456.1	37	c.1334_1340delATAATAA	CCDS54669.1																																																																																				0.348	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		94	220						94	220	---	---	---	---	-	168833762	TTATTAT	-	168833756	7	5	84	1	0	1	0	1	0	0	0	0	9463	1609	56	0	1855	0	MECOM	3	168833756	Frame_Shift_Del	DEL	TTATTAT	TCGA-IB-A5SP-01A-11D-A32N-08	44414891	168833756	29188674	42	32590											
MCF2L2	23101	broad.mit.edu	37	chr3	183027561	183027561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgctccacgtgcatcacGctgtctccaatgcctgtaaa	7	14	3	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:183027561G>A	ENST00000328913.3	-	10	1353	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	MCF2L2_ENST00000414362.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000447025.2_Silent_p.S352S	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	352							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)			CGTGCATCACGCTGTCTCCAA	0.448																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1054-1056)agC>agT		MCF.2 cell line derived transforming sequence-like 2							140	129	133					3																	183027561		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183027561G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1056C>T	3.37:g.183027561G>A						MCF2L2_ENST00000447025.2_Silent_p.S352S|MCF2L2_ENST00000473233.1_Silent_p.S352S|MCF2L2_ENST00000414362.2_Silent_p.S352S	p.S352S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		10	1353	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		352					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.1056C>T	CCDS3243.1																																																																																				0.448	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		11	401	0	0	0	1	0	11	401					A	183027561	G	A	183027561	2	1	84	1	0	0	0	0	0	0	0	1	9421	1078	38	1		1	MCF2L2	3	183027561	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	14193805	183027561	14994869	43	32591											
PCYT1A	5130	broad.mit.edu	37	chr3	195965646	195965646	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtggggaagtcttgccGgagaagggccatcggaaaga	17	7	1	2	rs372804569		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr3:195965646G>A	ENST00000292823.2	-	10	1189	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PCYT1A_ENST00000419333.1_Silent_p.S339S|PCYT1A_ENST00000431016.1_Silent_p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	339	3 X repeats.				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)	AAGTCTTGCCGGAGAAGGGCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.001					ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(1015-1017)tcC>tcT		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)	G		1,4405	2.1+/-5.4	0,1,2202	71	73	72		1017	-1.6	1	3		72	0,8600		0,0,4300	no	coding-synonymous	PCYT1A	NM_005017.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		339/368	195965646	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195965646G>A	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.1017C>T	3.37:g.195965646G>A						PCYT1A_ENST00000431016.1_Silent_p.S339S|PCYT1A_ENST00000419333.1_Silent_p.S339S	p.S339S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	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)	10	1189	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		339			3 X repeats.		A9LYK9|D3DXB1|Q86Y88	Silent	SNP	ENST00000292823.2	37	c.1017C>T	CCDS3315.1																																																																																				0.607	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		5	355	0	0	0	1	0	5	355					A	195965646	G	A	195965646	2	1	84	1	0	0	0	0	0	0	0	1	11652	1103	39	1		1	PCYT1A	3	195965646	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	12938085	195965646	2056784	44	32592											
N4BP2	55728	broad.mit.edu	37	chr4	40144449	40144449	+	Frame_Shift_Del	DEL	A	A	-													aagaagcttatcggatagggAaaaaaaatgtcgccaccttt							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:40144449delA	ENST00000261435.6	+	15	5358	c.4942delA	c.(4942-4944)aaafs	p.K1649fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1649					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						TCGGATAGGGAAAAAAAATGT	0.398																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4942-4944)aafs		NEDD4 binding protein 2							88	88	88					4																	40144449		2203	4300	6503	SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144449delA	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.4942delA	4.37:g.40144449delA	ENSP00000261435:p.Lys1649fs						p.K1649fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5358	+			1649					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Del	DEL	ENST00000261435.6	37	c.4942delA	CCDS3457.1																																																																																				0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		8	342						8	342	---	---	---	---	-	40144449	A	-	40144449	7	5	84	1	0	1	0	1	0	0	0	0	10151	247	9	0	4992	0	N4BP2	4	40144449	Frame_Shift_Del	DEL	A	TCGA-IB-A5SP-01A-11D-A32N-08		40144449	151009827	45	32593											
GNPDA2	132789	broad.mit.edu	37	chr4	44724119	44724120	+	Frame_Shift_Ins	INS	-	-	A													cctgttggtaaacccagtgtINSaaaatatctgtcctgtccag							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:44724119_44724120insA	ENST00000295448.3	-	2	261_262	c.105_106insT	c.(103-108)tttacafs	p.T36fs	GNPDA2_ENST00000507917.1_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000509756.1_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507534.1_Intron	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	36					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						AAACCCAGTGTAAAATATCTGT	0.332																																					Colon(54;743 1010 7604 16453 19544)	ENST00000509756.1																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						c.(103-108)ttcactfs		glucosamine-6-phosphate deaminase 2																																				SO:0001589	frameshift_variant	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44724119_44724120insA	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"glucosamine-6-phosphate isomerase"	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.106dupT	4.37:g.44724123_44724123dupA	ENSP00000295448:p.Thr36fs					GNPDA2_ENST00000511187.1_Intron|GNPDA2_ENST00000507534.1_Intron|GNPDA2_ENST00000507917.1_Frame_Shift_Ins_p.T36fs|GNPDA2_ENST00000295448.3_Frame_Shift_Ins_p.T36fs	p.T36fs			Q8TDQ7	GNPI2_HUMAN			2	211_212	-			36					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Frame_Shift_Ins	INS	ENST00000295448.3	37	c.105_106insT	CCDS3469.1																																																																																				0.332	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3	NM_138335		106	91						106	91	---	---	---	---	A	44724120	-	A	44724119	7	5	84	1	0	1	1	0	0	0	0	0	6572	1638	57	0	748	0	GNPDA2	4	44724119	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	4579670	44724119	146430157	46	32594											
GK2	2712	broad.mit.edu	37	chr4	80328648	80328648	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttaggccatagatctcagaaGaactgaagacatttggaaga	10	6	1	6			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:80328648G>C	ENST00000358842.3	-	1	724	c.707C>G	c.(706-708)tCt>tGt	p.S236C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	423					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						GATCTCAGAAGAACTGAAGAC	0.413																																						ENST00000358842.3																			0				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(706-708)tCt>tGt		glycerol kinase 2							66	70	69					4																	80328648		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328648G>C	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.707C>G	4.37:g.80328648G>C	ENSP00000351706:p.Ser236Cys						p.S236C	NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN			1	724	-			236					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.707C>G	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	5.559	0.287923	0.10513	.	.	ENSG00000196475	ENST00000358842	T	0.58060	0.36	4.57	2.8	0.32819	Carbohydrate kinase, FGGY, N-terminal (1);	0.115441	0.64402	N	0.000010	T	0.53206	0.1782	M	0.71581	2.175	0.58432	D	0.999998	B	0.31290	0.318	B	0.34093	0.175	T	0.57860	-0.7738	10	0.72032	D	0.01	-10.4064	13.132	0.59389	0.0:0.3081:0.6919:0.0	.	236	Q14410	GLPK2_HUMAN	C	236	ENSP00000351706:S236C	ENSP00000351706:S236C	S	-	2	0	GK2	80547672	1.000000	0.71417	0.999000	0.59377	0.136000	0.21042	3.061000	0.49963	0.612000	0.30071	-0.203000	0.12734	TCT		0.413	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		29	328	0	0	0	1	0	29	328					C	80328648	G	C	80328648	3	2	84	1	0	0	0	0	1	0	0	0	6450	942	33	5	958	5	GK2	4	80328648	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	35604529	80328648	110825628	47	32595											
NAP1L5	266812	broad.mit.edu	37	chr4	89618369	89618369	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccccccttacttcttggcGtcatcaggcatctcggcgtg	10	15	4	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:89618369G>T	ENST00000323061.5	-	1	1017	c.537C>A	c.(535-537)gaC>gaA	p.D179E	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	179					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		ACTTCTTGGCGTCATCAGGCA	0.557																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(535-537)gaC>gaA		nucleosome assembly protein 1-like 5							144	152	150					4																	89618369		2203	4300	6503	SO:0001583	missense	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618369G>T	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.537C>A	4.37:g.89618369G>T	ENSP00000320488:p.Asp179Glu					HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	p.D179E	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	1017	-			179						Missense_Mutation	SNP	ENST00000323061.5	37	c.537C>A	CCDS3632.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087495	0.55968	.	.	ENSG00000177432	ENST00000323061	T	0.54071	0.59	4.68	0.613	0.17597	.	.	.	.	.	T	0.33294	0.0858	N	0.24115	0.695	0.09310	N	1	B	0.25743	0.133	B	0.24155	0.051	T	0.19386	-1.0307	9	0.38643	T	0.18	0.3726	5.1882	0.15195	0.2844:0.1519:0.5637:0.0	.	179	Q96NT1	NP1L5_HUMAN	E	179	ENSP00000320488:D179E	ENSP00000320488:D179E	D	-	3	2	NAP1L5	89837392	0.036000	0.19791	0.000000	0.03702	0.548000	0.35241	0.747000	0.26290	0.142000	0.18901	-0.154000	0.13518	GAC		0.557	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		5	808	1	0	1	1	1	5	808					T	89618369	G	T	89618369	3	4	84	1	0	0	0	0	1	0	0	0	10201	1136	40	3	15	3	NAP1L5	4	89618369	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	9289721	89618369	101535907	48	32596											
C4orf17	84103	broad.mit.edu	37	chr4	100460491	100460491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttttactgcaaaatcaaaagTgctgaccagagatacagaag	8	7	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:100460491T>C	ENST00000326581.4	+	7	1162	c.800T>C	c.(799-801)gTg>gCg	p.V267A	C4orf17_ENST00000514652.1_Missense_Mutation_p.V267A	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	267										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)		AAATCAAAAGTGCTGACCAGA	0.458																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(799-801)gTg>gCg		chromosome 4 open reading frame 17							85	88	87					4																	100460491		2203	4300	6503	SO:0001583	missense	84103							g.chr4:100460491T>C	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.800T>C	4.37:g.100460491T>C	ENSP00000322582:p.Val267Ala					C4orf17_ENST00000326581.4_Missense_Mutation_p.V267A	p.V267A			Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	7	1154	+			267					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.800T>C	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329614	0.24167	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.18810	2.21;2.19	5.03	-0.46	0.12175	.	0.437967	0.19567	N	0.111193	T	0.13841	0.0335	L	0.39898	1.24	0.09310	N	1	B	0.20052	0.041	B	0.19666	0.026	T	0.29731	-1.0002	10	0.20519	T	0.43	-0.8055	7.9028	0.29744	0.0:0.5021:0.0:0.4979	.	267	Q53FE4	CD017_HUMAN	A	267	ENSP00000322582:V267A;ENSP00000427663:V267A	ENSP00000322582:V267A	V	+	2	0	C4orf17	100679514	0.140000	0.22579	0.068000	0.19968	0.002000	0.02628	0.035000	0.13797	0.052000	0.16007	-0.290000	0.09829	GTG		0.458	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		21	274	0	0	0	1	0	21	274					C	100460491	T	C	100460491	3	2	84	1	0	0	0	0	1	0	0	0	2259	1696	59	4	822	4	C4orf17	4	100460491	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	10842122	100460491	90693785	49	32597											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	154	0	0	0	1	0	5	154					T	140811108	C	T	140811108	2	4	84	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	40350617	140811108	50343168	50	32598											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		10	286						10	286	---	---	---	---	-	146077125	CAG	-	146077123	7	5	84	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-IB-A5SP-01A-11D-A32N-08	5266015	146077123	45077153	51	32599											
CEP72	55722	broad.mit.edu	37	chr5	633946	633946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcctggtcatggatgCggatgacgaggcagtcctga	16	9	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(574-576)gCg>gTg		centrosomal protein 72kDa							132	133	133					5																	633946		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:633946C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.575C>T	5.37:g.633946C>T	ENSP00000264935:p.Ala192Val					CEP72_ENST00000444221.1_Intron	p.A192V	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		5	665	+			192					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.575C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455	0.854063	0.17106	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.14	2.14	0.27477	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	0.023000	0.18921	0.021000	0.16686	0.247000	0.25773	0.787000	0.26858	0.650000	0.30769	-0.355000	0.07637	GCG		0.612	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		7	1025	0	0	0	1	0	7	1025					T	633946	C	T	633946	3	4	84	1	0	0	0	0	1	0	0	0	3269	768	27	1	593	1	CEP72	5	633946	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		633946	180281314	52	32600											
C5orf38	153571	broad.mit.edu	37	chr5	2752818	2752818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgaagcctcccagtcacgtcGagaacgggcaggagctcagg	14	12	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:2752818G>A	ENST00000334000.3	+	2	400	c.283G>A	c.(283-285)Gag>Aag	p.E95K	C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000515640.1_Missense_Mutation_p.E95K|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|IRX2_ENST00000382611.6_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000457752.2_Intron	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	95						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CAGTCACGTCGAGAACGGGCA	0.602																																						ENST00000515640.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(283-285)Gag>Aag		chromosome 5 open reading frame 38							57	64	62					5																	2752818		2203	4300	6503	SO:0001583	missense	153571					extracellular region		g.chr5:2752818G>A	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"coordinated expression to IRX2", "IRX2 neighbor"	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.283G>A	5.37:g.2752818G>A	ENSP00000334267:p.Glu95Lys					C5orf38_ENST00000505778.1_Missense_Mutation_p.E95K|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000397835.4_Missense_Mutation_p.E95K|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000334000.3_Missense_Mutation_p.E95K	p.E95K			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	2	302	+			95						Missense_Mutation	SNP	ENST00000334000.3	37	c.283G>A	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	7.522	0.656835	0.14580	.	.	ENSG00000186493	ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.47	-4.95	0.03048	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16837	-1.0389	8	0.87932	D	0	.	1.2249	0.01932	0.4102:0.2803:0.1664:0.143	.	95	Q86SI9	CEI_HUMAN	K	95	.	ENSP00000334267:E95K	E	+	1	0	C5orf38	2805818	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.638000	0.00866	-1.913000	0.01079	0.313000	0.20887	GAG		0.602	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		7	669	0	0	0	1	0	7	669					A	2752818	G	A	2752818	3	1	84	1	0	0	0	0	1	0	0	0	2303	1059	37	1	289	1	C5orf38	5	2752818	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	2118872	2752818	178162442	53	32601											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	1251						8	1251	---	---	---	---	-	79372776	TGA	-	79372774	7	5	84	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-A5SP-01A-11D-A32N-08	76619956	79372774	101542486	54	32602											
PAM	5066	broad.mit.edu	37	chr5	102309949	102309949	+	Frame_Shift_Del	DEL	A	A	-													tgagattgcaaatgtagtccAaaaaaaggatcttggtcgat							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:102309949delA	ENST00000438793.3	+	14	1762	c.1292delA	c.(1291-1293)caafs	p.Q431fs	PAM_ENST00000304400.7_Frame_Shift_Del_p.Q431fs|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000348126.2_Intron|PAM_ENST00000274392.9_Frame_Shift_Del_p.Q334fs|PAM_ENST00000455264.2_Frame_Shift_Del_p.Q431fs|PAM_ENST00000346918.2_Frame_Shift_Del_p.Q431fs	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	431	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AATGTAGTCCAAAAAAAGGAT	0.423																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(1291-1293)cafs		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						130	115	120					5																	102309949		2203	4300	6503	SO:0001589	frameshift_variant	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102309949delA	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.1292delA	5.37:g.102309949delA	ENSP00000396493:p.Gln431fs					PAM_ENST00000455264.2_Frame_Shift_Del_p.Q431fs|PAM_ENST00000346918.2_Frame_Shift_Del_p.Q431fs|PAM_ENST00000274392.9_Frame_Shift_Del_p.Q334fs|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Frame_Shift_Del_p.Q431fs|PAM_ENST00000348126.2_Intron	p.Q431fs	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	14	1762	+		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)	431			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Frame_Shift_Del	DEL	ENST00000438793.3	37	c.1292delA	CCDS54885.1																																																																																				0.423	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		7	475						7	475	---	---	---	---	-	102309949	A	-	102309949	7	5	84	1	0	1	0	1	0	0	0	0	11454	130	5	0	1346	0	PAM	5	102309949	Frame_Shift_Del	DEL	A	TCGA-IB-A5SP-01A-11D-A32N-08	22937175	102309949	78605311	55	32603											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983486	128983486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctggagaatgtaccagcaGgacctcagcacctgaacatc	11	12	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:128983486G>A	ENST00000274487.4	+	12	2028	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	628	Disintegrin.					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)		TGTACCAGCAGGACCTCAGCA	0.507																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1882-1884)aGg>aAg		ADAM metallopeptidase with thrombospondin type 1 motif, 19							142	140	141					5																	128983486		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983486G>A	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.1883G>A	5.37:g.128983486G>A	ENSP00000274487:p.Arg628Lys					CTC-575N7.1_ENST00000503616.1_RNA	p.R628K	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	2028	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	628			Disintegrin.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1883G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835992	0.32421	.	.	ENSG00000145808	ENST00000274487	T	0.62232	0.04	4.71	3.84	0.44239	.	0.133374	0.47852	N	0.000212	T	0.32645	0.0836	N	0.04245	-0.25	0.33562	D	0.59748	B	0.06786	0.001	B	0.04013	0.001	T	0.32348	-0.9910	9	.	.	.	.	6.0807	0.19940	0.1582:0.0:0.6875:0.1543	.	628	Q8TE59	ATS19_HUMAN	K	628	ENSP00000274487:R628K	.	R	+	2	0	ADAMTS19	129011385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.233000	0.43027	1.586000	0.49944	0.650000	0.86243	AGG		0.507	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		255	434	0	0	0	1	0	255	434					A	128983486	G	A	128983486	3	1	84	1	0	0	0	0	1	0	0	0	264	1000	35	2	1929	2	ADAMTS19	5	128983486	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	26673537	128983486	51931774	56	32604											
PCDHA1	56147	broad.mit.edu	37	chr5	140166589	140166589	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcgacgttaatgataaCgccccactgtttgaccaggc	9	13	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140166589C>T	ENST00000504120.2	+	1	714	c.714C>T	c.(712-714)aaC>aaT	p.N238N	PCDHA1_ENST00000394633.3_Silent_p.N238N|PCDHA1_ENST00000378133.3_Silent_p.N238N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	238	Cadherin 2. {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)			TTAATGATAACGCCCCACTGT	0.488																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(712-714)aaC>aaT									98	96	96					5																	140166589		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140166589C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.714C>T	5.37:g.140166589C>T						PCDHA1_ENST00000378133.3_Silent_p.N238N|PCDHA1_ENST00000394633.3_Silent_p.N238N	p.N238N	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	714	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.714C>T	CCDS54913.1																																																																																				0.488	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		172	282	0	0	0	1	0	172	282					T	140166589	C	T	140166589	2	4	84	1	0	0	0	0	0	0	0	1	11561	535	19	1		1	PCDHA1	5	140166589	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	11183103	140166589	40748671	57	32605											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	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.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	711	1	0	6.31663e-08	1	6.52921e-08	8	711					T	140553994	G	T	140553994	2	4	84	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	387405	140553994	40361266	58	32606											
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	15	15	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137	136	136					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		7	1202	0	0	0	1	0	7	1202					A	141051740	G	A	141051740	3	1	84	1	0	0	0	0	1	0	0	0	840	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	497746	141051740	39863520	59	32607											
ADAM19	8728	broad.mit.edu	37	chr5	156915309	156915309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttggtgcggggggaattggCcggcttggaggaggcctcct	19	8	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:156915309C>T	ENST00000517905.1	-	21	2558	c.2514G>A	c.(2512-2514)cgG>cgA	p.R838R	ADAM19_ENST00000394020.1_Silent_p.R840R|ADAM19_ENST00000430702.2_Silent_p.R571R|ADAM19_ENST00000257527.4_Silent_p.R838R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	838					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)			GGGGAATTGGCCGGCTTGGAG	0.567																																						ENST00000257527.4																			0				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						c.(2512-2514)cgG>cgA		ADAM metallopeptidase domain 19							92	98	96					5																	156915309		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156915309C>T	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.2514G>A	5.37:g.156915309C>T						ADAM19_ENST00000517905.1_Silent_p.R838R|ADAM19_ENST00000430702.2_Silent_p.R571R|ADAM19_ENST00000394020.1_Silent_p.R840R	p.R838R	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		21	2592	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	838					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.2514G>A		.	.	.	.	.	.	.	.	.	.	C	4.950	0.176471	0.09443	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.69	2.92	0.33932	.	.	.	.	.	T	0.59059	0.2166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54077	-0.8347	4	.	.	.	.	9.7224	0.40311	0.0:0.7816:0.0:0.2184	.	.	.	.	D	409	.	.	G	-	2	0	ADAM19	156847887	0.988000	0.35896	0.998000	0.56505	0.351000	0.29236	0.032000	0.13732	0.738000	0.32606	0.491000	0.48974	GGC		0.567	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		7	1024	0	0	0	1	0	7	1024					T	156915309	C	T	156915309	2	4	84	1	0	0	0	0	0	0	0	1	240	726	26	2		2	ADAM19	5	156915309	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	15863569	156915309	23999951	60	32608											
STK10	6793	broad.mit.edu	37	chr5	171583761	171583761	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtttcaatgactttggccGcagccaaagcacccgtctcc	9	14	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:171583761G>A	ENST00000176763.5	-	2	531	c.188C>T	c.(187-189)gCg>gTg	p.A63V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACTTTGGCCGCAGCCAAAGC	0.547																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(187-189)gCg>gTg		serine/threonine kinase 10							167	130	143					5																	171583761		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171583761G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.188C>T	5.37:g.171583761G>A	ENSP00000176763:p.Ala63Val						p.A63V	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	531	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	63			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.188C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884146	0.91814	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.39592	1.07	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67791	-0.5579	10	0.87932	D	0	.	16.9514	0.86246	0.0:0.0:1.0:0.0	.	63	O94804	STK10_HUMAN	V	63	ENSP00000176763:A63V	ENSP00000176763:A63V	A	-	2	0	STK10	171516366	1.000000	0.71417	0.160000	0.22671	0.716000	0.41182	9.826000	0.99387	2.588000	0.87417	0.561000	0.74099	GCG		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		5	591	0	0	0	1	0	5	591					A	171583761	G	A	171583761	3	1	84	1	0	0	0	0	1	0	0	0	15338	1087	38	1	2790	1	STK10	5	171583761	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	14668452	171583761	9331499	61	32609											
C5orf41	153222	broad.mit.edu	37	chr5	172518124	172518124	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtcacttgcagcaggAgagagcagcagtctttctgc	13	11	3	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:172518124A>G	ENST00000296953.2	+	4	1261	c.942A>G	c.(940-942)ggA>ggG	p.G314G	CREBRF_ENST00000520420.1_Silent_p.G314G|CREBRF_ENST00000522692.1_Silent_p.G314G|CREBRF_ENST00000540014.1_Silent_p.G314G	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	314					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTGCAGCAGGAGAGAGCAGCA	0.478																																						ENST00000540014.1																			0											c.(940-942)ggA>ggG		CREB3 regulatory factor							74	74	74					5																	172518124		2203	4300	6503	SO:0001819	synonymous_variant	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172518124A>G	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.942A>G	5.37:g.172518124A>G						CREBRF_ENST00000520420.1_Silent_p.G314G|CREBRF_ENST00000522692.1_Silent_p.G314G|CREBRF_ENST00000296953.2_Silent_p.G314G	p.G314G			Q8IUR6	CE041_HUMAN			4	1261	+			314					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	ENST00000296953.2	37	c.942A>G	CCDS34293.1																																																																																				0.478	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		5	336	0	0	0	1	0	5	336					G	172518124	A	G	172518124	2	3	84	1	0	0	0	0	0	0	0	1	2307	291	11	4		4	C5orf41	5	172518124	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	934363	172518124	8397136	62	32610											
COL23A1	91522	broad.mit.edu	37	chr5	177688748	177688748	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctgggggtccctttgggCcctggaacaagagaagagaa	15	10	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:177688748C>A	ENST00000390654.3	-	11	1034	c.677G>T	c.(676-678)gGc>gTc	p.G226V	COL23A1_ENST00000407622.1_Splice_Site_p.G190V	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	226	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TCCCTTTGGGCCCTGGAACAA	0.562																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.e11-1		collagen, type XXIII, alpha 1							56	61	60					5																	177688748		1913	4113	6026	SO:0001630	splice_region_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177688748C>A	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.676-1G>T	5.37:g.177688748C>A						COL23A1_ENST00000407622.1_Splice_Site_p.G190_splice	p.G226_splice	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	11	1034	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	226			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Splice_Site	SNP	ENST00000390654.3	37	c.675_splice	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606433	0.46527	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.99637	-6.29;-6.29	5.29	5.29	0.74685	.	0.150367	0.42548	D	0.000684	D	0.99802	0.9915	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96894	0.9655	10	0.87932	D	0	-8.2243	14.438	0.67296	0.0:1.0:0.0:0.0	.	226	Q86Y22	CONA1_HUMAN	V	226;190	ENSP00000375069:G226V;ENSP00000385092:G190V	ENSP00000375069:G226V	G	-	2	0	COL23A1	177621354	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	3.891000	0.56227	2.469000	0.83416	0.491000	0.48974	GGC		0.562	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	Missense_Mutation	145	229	1	0	4.37368e-65	1	4.72534e-65	145	229					A	177688748	C	A	177688748	5	1	84	1	0	0	0	0	0	0	1	0	3691	753	26	3	1021	3	COL23A1	5	177688748	Splice_Site	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	5170624	177688748	3226512	63	32611											
BTNL8	79908	broad.mit.edu	37	chr5	180374632	180374633	+	Intron	DEL	GA	GA	-													ctccaaattccagtgtaagcGagagagagaagcatgggccg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr5:180374632_180374633delGA	ENST00000340184.4	+	4	993				BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000231229.4_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000533815.2_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)cfs		butyrophilin-like 8																																				SO:0001627	intron_variant	79908					integral to membrane		g.chr5:180374632_180374633delGA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+7GA>-	5.37:g.180374640_180374641delGA						BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron	p.R265fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1028_1029	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	265					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	c.794_795delGA	CCDS43413.1																																																																																				0.495	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		13	1720						13	1720	---	---	---	---	-	180374633	GA	-	180374632	6	5	84	0	1	1	0	1	0	0	0	0	1571	1058	37	0		0	BTNL8	5	180374632	Intron	DEL	GA	TCGA-IB-A5SP-01A-11D-A32N-08	2685884	180374632	540628	64	32612											
RREB1	6239	broad.mit.edu	37	chr6	7230570	7230570	+	Frame_Shift_Del	DEL	C	C	-													agcgcggccgagctggtggaCgccttctgcgccccggacac					rs532055856	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:7230570delC	ENST00000349384.6	+	10	2552	c.2238delC	c.(2236-2238)gacfs	p.D746fs	RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379938.2_Frame_Shift_Del_p.D746fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	746					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGCTGGTGGACGCCTTCTGCG	0.662																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2236-2238)gafs		ras responsive element binding protein 1							55	51	52					6																	7230570		2203	4300	6503	SO:0001589	frameshift_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230570delC	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2238delC	6.37:g.7230570delC	ENSP00000305560:p.Asp746fs					RREB1_ENST00000349384.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000334984.6_Frame_Shift_Del_p.D746fs|RREB1_ENST00000379933.3_Frame_Shift_Del_p.D746fs	p.D746fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2775	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	746					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Del	DEL	ENST00000349384.6	37	c.2238delC	CCDS34336.1																																																																																				0.662	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			146	114						146	114	---	---	---	---	-	7230570	C	-	7230570	7	5	84	1	0	1	0	1	0	0	0	0	13729	535	19	0	2264	0	RREB1	6	7230570	Frame_Shift_Del	DEL	C	TCGA-IB-A5SP-01A-11D-A32N-08		7230570	163884497	65	32613											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124800	26124800	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccttcctaacatccagGccgtgcttctgcctaagaag	9	14	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:26124800G>T	ENST00000602637.1	+	1	370	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	114						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						TAACATCCAGGCCGTGCTTCT	0.582																																						ENST00000602637.1																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(340-342)Gcc>Tcc		histone cluster 1, H2ac							85	85	85					6																	26124800		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124800G>T	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.340G>T	6.37:g.26124800G>T	ENSP00000473534:p.Ala114Ser					HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A114S	p.A114S			Q93077	H2A1C_HUMAN			1	370	+			114					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.340G>T	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	13.94	2.385900	0.42308	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.40756	1.02;1.02	5.5	5.5	0.81552	Histone-fold (2);Histone H2A (2);	0.000000	0.44285	D	0.000478	T	0.20047	0.0482	L	0.31845	0.965	0.41553	D	0.988589	B	0.10296	0.003	B	0.12156	0.007	T	0.02728	-1.1118	10	0.37606	T	0.19	.	13.6874	0.62524	0.0:0.0:0.8458:0.1542	.	114	Q93077	H2A1C_HUMAN	S	114	ENSP00000367022:A114S;ENSP00000321389:A114S	ENSP00000321389:A114S	A	+	1	0	HIST1H2AC	26232779	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.712000	0.84684	2.750000	0.94351	0.467000	0.42956	GCC		0.582	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		27	257	1	0	8.24728e-16	1	8.69199e-16	27	257					T	26124800	G	T	26124800	3	4	84	1	0	0	0	0	1	0	0	0	7160	1203	42	3	342	3	HIST1H2AC	6	26124800	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	18894230	26124800	144990267	66	32614											
CUL9	23113	broad.mit.edu	37	chr6	43155033	43155033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgggctgtaccctttgccGtacctccagcccgaacctca	9	16	1	0	rs148427416		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	479					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						ACCCTTTGCCGTACCTCCAGC	0.532																																						ENST00000252050.4																			0				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						c.(1435-1437)ccG>ccA		cullin 9		G		0,4406		0,0,2203	163	155	157		1437	-2.6	1	6	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUL9	NM_015089.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		479/2518	43155033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155033G>A	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.1437G>A	6.37:g.43155033G>A						CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	p.P479P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			6	1521	+			479					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.1437G>A	CCDS4890.1																																																																																				0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		5	549	0	0	0	1	0	5	549					A	43155033	G	A	43155033	2	1	84	1	0	0	0	0	0	0	0	1	4072	1132	40	1		1	CUL9	6	43155033	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	17030233	43155033	127960034	67	32615											
RCAN2	10231	broad.mit.edu	37	chr6	46214487	46214487	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggaccgcaaagcttacctGgtcctagtttggccacagca	10	12	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:46214487G>A	ENST00000330430.6	-	3	619	c.431C>T	c.(430-432)cCa>cTa	p.P144L	RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000371374.1_Missense_Mutation_p.P190L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	144					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AAGCTTACCTGGTCCTAGTTT	0.488																																						ENST00000371374.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(568-570)cCa>cTa		regulator of calcineurin 2							47	49	48					6																	46214487		1931	4137	6068	SO:0001583	missense	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46214487G>A	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"Down syndrome critical region gene 1-like 1"	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.431C>T	6.37:g.46214487G>A	ENSP00000329454:p.Pro144Leu					RCAN2_ENST00000306764.7_Missense_Mutation_p.P190L|RCAN2_ENST00000405162.1_Missense_Mutation_p.P190L|RCAN2_ENST00000330430.6_Missense_Mutation_p.P144L	p.P190L	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN			4	760	-			144					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	ENST00000330430.6	37	c.569C>T	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100723	0.94245	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.73217	2.22	0.80722	D	1	P;P	0.50710	0.938;0.775	P;B	0.58130	0.833;0.396	T	0.74609	-0.3608	9	0.87932	D	0	-9.8695	18.8222	0.92102	0.0:0.0:1.0:0.0	.	190;144	Q14206-2;Q14206	.;RCAN2_HUMAN	L	144;190;190;190	.	ENSP00000305223:P190L	P	-	2	0	RCAN2	46322446	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.378000	0.97191	2.703000	0.92315	0.585000	0.79938	CCA		0.488	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			5	156	0	0	0	1	0	5	156					A	46214487	G	A	46214487	3	1	84	1	0	0	0	0	1	0	0	0	13219	1348	47	2	170	2	RCAN2	6	46214487	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3059454	46214487	124900580	68	32616											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				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)	p.Q33K(1)		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)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	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.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	446						7	446	---	---	---	---	-	137815212	TGG	-	137815210	7	5	84	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-IB-A5SP-01A-11D-A32N-08	91600723	137815210	33299857	69	32617											
GRM1	2911	broad.mit.edu	37	chr6	146755420	146755420	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agcagcagcagcaaccccctCcacagcagaaatcgctgatg	9	15	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:146755420C>G	ENST00000282753.1	+	8	3308	c.3073C>G	c.(3073-3075)Cca>Gca	p.P1025A	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1025A|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1025	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCAACCCCCTCCACAGCAGAA	0.662																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3073-3075)Cca>Gca		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						50	58	55					6																	146755420		2202	4299	6501	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755420C>G	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.3073C>G	6.37:g.146755420C>G	ENSP00000282753:p.Pro1025Ala					GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1025A|GRM1_ENST00000507907.1_3'UTR	p.P1025A	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3543	+		Ovarian(120;0.0387)	1025			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3073C>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	5.758	0.324185	0.10900	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87179	-2.22;-2.22	2.79	0.452	0.16634	.	1.033610	0.07658	N	0.933160	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43861	-0.9365	10	0.05833	T	0.94	.	3.4837	0.07611	0.0:0.5533:0.2518:0.1949	.	1025	Q13255	GRM1_HUMAN	A	1025	ENSP00000354896:P1025A;ENSP00000282753:P1025A	ENSP00000282753:P1025A	P	+	1	0	GRM1	146797113	0.010000	0.17322	0.052000	0.19188	0.885000	0.51271	2.510000	0.45468	0.066000	0.16515	0.306000	0.20318	CCA		0.662	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		113	328	0	0	0	1	0	113	328					G	146755420	C	G	146755420	3	3	84	1	0	0	0	0	1	0	0	0	6826	855	30	5	3168	5	GRM1	6	146755420	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	8940210	146755420	24359647	70	32618											
TIAM2	26230	broad.mit.edu	37	chr6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaacagggggtggtccGgaaggccgggtggctcttct	19	8	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGTGGTCCGGAAGGCCGGG	0.542																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1522-1524)cGg>cAg		T-cell lymphoma invasion and metastasis 2							65	70	68					6																	155458639		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458639G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1523G>A	6.37:g.155458639G>A	ENSP00000437188:p.Arg508Gln					TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q	p.R508Q			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2796	+		Ovarian(120;0.196)	508			PH 1.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1523G>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	36	5.737056	0.96865	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.84890	0.0836	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	508;508	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	Q	508;754;508;508;508;508;508	ENSP00000437188:R508Q;ENSP00000434901:R508Q;ENSP00000407746:R508Q;ENSP00000327315:R508Q;ENSP00000353528:R508Q;ENSP00000433348:R508Q	ENSP00000327315:R508Q	R	+	2	0	TIAM2	155500331	1.000000	0.71417	0.993000	0.49108	0.972000	0.66771	9.476000	0.97823	2.894000	0.99253	0.655000	0.94253	CGG		0.542	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	299	0	0	0	1	0	5	299					A	155458639	G	A	155458639	3	1	84	1	0	0	0	0	1	0	0	0	15943	1116	39	1	1529	1	TIAM2	6	155458639	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	8703219	155458639	15656428	71	32619											
RNF216	54476	broad.mit.edu	37	chr7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaagtcatagttgacccGcacgttgggcagagggggca	15	10	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642																																						ENST00000425013.2																		FBXL18/RNF216(2)	1	Substitution - Missense(1)	p.R895W(1)	endometrium(1)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(2512-2514)Cgg>Tgg		ring finger protein 216							102	109	107					7																	5662580		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5662580G>A	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"RING-type (C3HC4) zinc fingers"	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2512C>T	7.37:g.5662580G>A	ENSP00000404602:p.Arg838Trp					RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	p.R838W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2736	-		Ovarian(82;0.07)	838			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2512C>T	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464480	0.63513	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.51325	0.75;0.71	4.89	1.82	0.25136	.	0.065480	0.64402	D	0.000013	T	0.58609	0.2134	L	0.47716	1.5	0.42644	D	0.99342	D;D	0.89917	1.0;1.0	D;D	0.77004	0.978;0.989	T	0.55761	-0.8090	10	0.46703	T	0.11	-14.9668	12.9946	0.58640	0.0:0.0:0.4526:0.5474	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	W	838;895;650	ENSP00000404602:R838W;ENSP00000374552:R895W	ENSP00000374552:R895W	R	-	1	2	RNF216	5629106	1.000000	0.71417	0.097000	0.21041	0.972000	0.66771	2.461000	0.45040	0.126000	0.18424	0.561000	0.74099	CGG		0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		7	1056	0	0	0	1	0	7	1056					A	5662580	G	A	5662580	3	1	84	1	0	0	0	0	1	0	0	0	13530	1086	38	1	92	1	RNF216	7	5662580	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		5662580	153476083	72	32620											
HDAC9	9734	broad.mit.edu	37	chr7	18668998	18668998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccaacttgaaggtgcgGtccaggttaaaacagaaagt	12	8	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:18668998G>A	ENST00000432645.2	+	6	681	c.681G>A	c.(679-681)cgG>cgA	p.R227R	HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000405010.3_Silent_p.R227R|HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000406451.4_Silent_p.R227R	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	227	Interaction with ETV6.|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)	TGAAGGTGCGGTCCAGGTTAA	0.408																																						ENST00000406451.3																			0				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						c.(679-681)cgG>cgA		histone deacetylase 9	Valproic Acid(DB00313)						54	51	52					7																	18668998		1895	4113	6008	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18668998G>A	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.681G>A	7.37:g.18668998G>A						HDAC9_ENST00000428307.2_Intron|HDAC9_ENST00000441542.2_Silent_p.R230R|HDAC9_ENST00000401921.1_Intron|HDAC9_ENST00000524023.1_Intron|HDAC9_ENST00000406072.1_Intron|HDAC9_ENST00000417496.2_Intron|HDAC9_ENST00000432645.2_Silent_p.R227R|HDAC9_ENST00000456174.2_Silent_p.R199R|HDAC9_ENST00000405010.3_Silent_p.R227R	p.R227R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			7	831	+	all_lung(11;0.187)		227			Interaction with ETV6.|Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.681G>A	CCDS47555.1																																																																																				0.408	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			33	66	0	0	0	1	0	33	66					A	18668998	G	A	18668998	2	1	84	1	0	0	0	0	0	0	0	1	7044	1248	44	2		2	HDAC9	7	18668998	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	13006418	18668998	140469665	73	32621											
ELN	2006	broad.mit.edu	37	chr7	73474290	73474290	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggctcctggagttggcTtggctcctggagttggcgtg	18	8	0	0	rs201894730	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:73474290T>G	ENST00000252034.7	+	23	1888	c.1489T>G	c.(1489-1491)Ttg>Gtg	p.L497V	ELN_ENST00000357036.5_Missense_Mutation_p.L502V|ELN_ENST00000458204.1_Missense_Mutation_p.L487V|ELN_ENST00000380576.5_Missense_Mutation_p.L478V|ELN_ENST00000320492.7_Missense_Mutation_p.L416V|ELN_ENST00000380575.4_Missense_Mutation_p.L468V|ELN_ENST00000380562.4_Missense_Mutation_p.L503V|ELN_ENST00000358929.4_Missense_Mutation_p.L532V|ELN_ENST00000380553.4_Missense_Mutation_p.L361V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Missense_Mutation_p.L483V|ELN_ENST00000414324.1_Missense_Mutation_p.L473V|ELN_ENST00000320399.6_Missense_Mutation_p.L497V|ELN_ENST00000380584.4_Missense_Mutation_p.L464V|ELN_ENST00000445912.1_Missense_Mutation_p.L497V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGAGTTGGCTTGGCTCCTGG	0.607			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						G|||	3	0.000599042	0.0008	0.0	5008	,	,		12452	0.0		0.001	False		,,,				2504	0.001					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"	L	PAX5		B-ALL		0				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						c.(1489-1491)Ttg>Gtg		elastin	Rofecoxib(DB00533)						195	180	186					7																	73474290		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474290T>G		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.1489T>G	7.37:g.73474290T>G	ENSP00000252034:p.Leu497Val					ELN_ENST00000429192.1_Missense_Mutation_p.L483V|ELN_ENST00000320399.6_Missense_Mutation_p.L497V|ELN_ENST00000380576.5_Missense_Mutation_p.L478V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000320492.7_Missense_Mutation_p.L416V|ELN_ENST00000458204.1_Missense_Mutation_p.L487V|ELN_ENST00000380575.4_Missense_Mutation_p.L468V|ELN_ENST00000414324.1_Missense_Mutation_p.L473V|ELN_ENST00000380562.4_Missense_Mutation_p.L503V|ELN_ENST00000357036.5_Missense_Mutation_p.L502V|ELN_ENST00000445912.1_Missense_Mutation_p.L497V|ELN_ENST00000380584.4_Missense_Mutation_p.L464V|ELN_ENST00000358929.4_Missense_Mutation_p.L532V|ELN_ENST00000380553.4_Missense_Mutation_p.L361V	p.L497V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1888	+		Lung NSC(55;0.159)	526			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1489T>G	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	9.976	1.226933	0.22542	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.55;1.56;1.53;1.52;1.52;1.51;1.55;1.56;1.54;1.54;1.53;1.55;1.55;1.54	3.57	0.521	0.17046	.	.	.	.	.	T	0.11750	0.0286	.	.	.	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0	T	0.34378	-0.9831	8	0.08837	T	0.75	.	3.2149	0.06695	0.0914:0.1471:0.4594:0.3021	.	497;416;473;487;503;468;483;502;478;361;408;464;497	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	V	497;497;532;416;473;503;468;464;487;502;483;361;478;497	ENSP00000389857:L497V;ENSP00000252034:L497V;ENSP00000351807:L532V;ENSP00000315607:L416V;ENSP00000392575:L473V;ENSP00000369936:L503V;ENSP00000369949:L468V;ENSP00000369958:L464V;ENSP00000403162:L487V;ENSP00000349540:L502V;ENSP00000391129:L483V;ENSP00000369926:L361V;ENSP00000369950:L478V;ENSP00000313565:L497V	ENSP00000252034:L497V	L	+	1	2	ELN	73112226	0.469000	0.25846	0.000000	0.03702	0.028000	0.11728	0.540000	0.23191	-0.267000	0.09325	-0.126000	0.14955	TTG		0.607	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		210	743	0	0	0	1	0	210	743					G	73474290	T	G	73474290	3	3	84	1	0	0	0	0	1	0	0	0	5089	1606	56	4	1594	4	ELN	7	73474290	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	54805292	73474290	85664373	74	32622											
NRF1	4899	broad.mit.edu	37	chr7	129349051	129349051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtccggagtgatgtccGcacagaagagcaaaagcaga	12	8	0	4			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:129349051G>A	ENST00000393232.1	+	6	860	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	248					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)	p.R248L(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						AGTGATGTCCGCACAGAAGAG	0.493																																						ENST00000393232.1																			1	Substitution - Missense(1)	p.R248L(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.(742-744)cGc>cAc		nuclear respiratory factor 1							122	124	124					7																	129349051		2203	4300	6503	SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129349051G>A	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.743G>A	7.37:g.129349051G>A	ENSP00000376924:p.Arg248His					NRF1_ENST00000393230.2_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H	p.R248H	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			6	860	+			248					A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	ENST00000393232.1	37	c.743G>A	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.582880	0.96578	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	D;D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57;-2.57	5.85	5.85	0.93711	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.94804	0.8322	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94125	0.7383	9	.	.	.	-9.5325	19.1648	0.93551	0.0:0.0:1.0:0.0	.	248;248	Q96AN2;Q16656	.;NRF1_HUMAN	H	248;248;87;248;248;248;248	ENSP00000376924:R248H;ENSP00000440455:R87H;ENSP00000223190:R248H;ENSP00000309826:R248H;ENSP00000376922:R248H;ENSP00000376923:R248H	.	R	+	2	0	NRF1	129136287	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.499000	0.97975	2.772000	0.95346	0.655000	0.94253	CGC		0.493	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		7	553	0	0	0	1	0	7	553					A	129349051	G	A	129349051	3	1	84	1	0	0	0	0	1	0	0	0	10688	1087	38	1	761	1	NRF1	7	129349051	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	55874761	129349051	29789612	75	32623											
TMEM140	55281	broad.mit.edu	37	chr7	134849251	134849251	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatgagcatcatagtcCtcgtgattgtggtcatctgc	10	9	4	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr7:134849251C>A	ENST00000275767.3	+	2	281	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	20						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						CATCATAGTCCTCGTGATTGT	0.582																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(58-60)Ctc>Atc		transmembrane protein 140							163	140	148					7																	134849251		2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849251C>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.58C>A	7.37:g.134849251C>A	ENSP00000275767:p.Leu20Ile					C7orf49_ENST00000459937.1_Intron	p.L20I	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	281	+			20					A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.58C>A	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360163	0.41801	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.19938	2.11	5.68	3.88	0.44766	.	0.680771	0.13146	N	0.410298	T	0.23965	0.0580	L	0.59436	1.845	0.09310	N	1	P	0.51351	0.944	B	0.44108	0.441	T	0.08066	-1.0740	10	0.40728	T	0.16	-9.2845	9.0526	0.36385	0.0:0.763:0.157:0.08	.	20	Q9NV12	TM140_HUMAN	I	20	ENSP00000275767:L20I	ENSP00000275767:L20I	L	+	1	0	TMEM140	134499791	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.428000	0.21395	0.741000	0.32674	0.563000	0.77884	CTC		0.582	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		5	584	1	0	1.23904e-05	1	1.27461e-05	5	584					A	134849251	C	A	134849251	3	1	84	1	0	0	0	0	1	0	0	0	16107	681	24	3	60	3	TMEM140	7	134849251	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	5500200	134849251	24289412	76	32624											
EFHA2	286097	broad.mit.edu	37	chr8	16963051	16963051	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtggaaaatacatcAgtatttttagaaaatgtgcg	8	4	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:16963051A>C	ENST00000318063.5	+	11	1257	c.1215A>C	c.(1213-1215)tcA>tcC	p.S405S	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	405	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										AAAATACATCAGTATTTTTAG	0.308																																						ENST00000318063.5																			0											c.(1213-1215)tcA>tcC		mitochondrial calcium uptake family, member 3							58	61	60					8																	16963051		2198	4296	6494	SO:0001819	synonymous_variant	286097							g.chr8:16963051A>C	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1215A>C	8.37:g.16963051A>C						MICU3_ENST00000519866.1_3'UTR	p.S405S	NM_181723.2	NP_859074.1					11	1257	+								Q8IYZ3	Silent	SNP	ENST00000318063.5	37	c.1215A>C	CCDS5999.1	.	.	.	.	.	.	.	.	.	.	A	8.918	0.960323	0.18507	.	.	ENSG00000155970	ENST00000519044	.	.	.	4.99	-0.65	0.11457	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26292	-1.0107	4	.	.	.	-23.2572	3.7775	0.08667	0.5615:0.2499:0.0683:0.1202	.	.	.	.	P	250	.	.	Q	+	2	0	EFHA2	17007422	0.834000	0.29399	0.993000	0.49108	0.987000	0.75469	0.023000	0.13533	0.083000	0.17047	0.528000	0.53228	CAG		0.308	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		4	117	0	0	0	1	0	4	117					C	16963051	A	C	16963051	2	2	84	1	0	0	0	0	0	0	0	1	4960	175	7	4		4	EFHA2	8	16963051	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08		16963051	129400971	77	32625											
KCNU1	157855	broad.mit.edu	37	chr8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C													ctccatgtgtgctgtcttgtINScccccccaccccagccatca							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)tccfs	p.S801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801					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)		TGCTGTCTTGTCCCCCCCACCC	0.525																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2401-2403)cccfs		potassium channel, subfamily U, member 1																																				SO:0001589	frameshift_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768517_36768518insC	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.2408dupC	8.37:g.36768524_36768524dupC	ENSP00000382770:p.Ser801fs						p.P801fs	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	22	2438_2439	+			801						Frame_Shift_Ins	INS	ENST00000399881.3	37	c.2401_2402insC	CCDS55220.1																																																																																				0.525	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		18	531						18	531	---	---	---	---	C	36768518	-	C	36768517	7	5	84	1	0	1	1	0	0	0	0	0	8123	1667	58	0	2487	0	KCNU1	8	36768517	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	19805466	36768517	109595505	78	32626											
RRS1	23212	broad.mit.edu	37	chr8	67341954	67341954	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtaacctggcccgcgcGcacaagatgcagctgcccag	12	16	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:67341954G>A	ENST00000320270.2	+	1	692	c.588G>A	c.(586-588)gcG>gcA	p.A196A	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank|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)	196					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)			TGGCCCGCGCGCACAAGATGC	0.652																																						ENST00000320270.2																			0				kidney(2)|lung(2)	4						c.(586-588)gcG>gcA		RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)							19	22	21					8																	67341954		2176	4264	6440	SO:0001819	synonymous_variant	23212				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus		g.chr8:67341954G>A	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.588G>A	8.37:g.67341954G>A							p.A196A	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		1	692	+		Lung NSC(129;0.197)	196					Q9BUX8	Silent	SNP	ENST00000320270.2	37	c.588G>A	CCDS6189.1																																																																																				0.652	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1	NM_015169		5	287	0	0	0	1	0	5	287					A	67341954	G	A	67341954	2	1	84	1	0	0	0	0	0	0	0	1	13742	1074	38	1		1	RRS1	8	67341954	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	30573437	67341954	79022068	79	32627											
CYP11B1	1584	broad.mit.edu	37	chr8	143958154	143958154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccacaccttggggctgGtccagcgagacaggctcctg	12	15	0	1	rs34620645	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr8:143958154G>A	ENST00000292427.4	-	4	775	c.743C>T	c.(742-744)aCc>aTc	p.T248I	CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I|CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	248			T -> I (in dbSNP:rs34620645).		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTTGGGGCTGGTCCAGCGAGA	0.602									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(742-744)aCc>aTc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						52	47	48					8																	143958154		2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143958154G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.743C>T	8.37:g.143958154G>A	ENSP00000292427:p.Thr248Ile					CYP11B1_ENST00000517471.1_Missense_Mutation_p.T248I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.T319I	p.T248I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			4	775	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		248		T -> I (in dbSNP:rs34620645).			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.743C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.281373	0.01398	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.66815	-0.23;-0.23;-0.23	3.64	0.81	0.18732	.	1.139050	0.06616	N	0.756477	T	0.44644	0.1303	N	0.17312	0.475	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.17979	0.006;0.013;0.02	T	0.28744	-1.0034	10	0.02654	T	1	.	7.2978	0.26403	0.3297:0.0:0.6703:0.0	rs34620645	319;248;248	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	I	248;248;319	ENSP00000292427:T248I;ENSP00000428043:T248I;ENSP00000366903:T319I	ENSP00000292427:T248I	T	-	2	0	CYP11B1	143955156	0.000000	0.05858	0.320000	0.25306	0.198000	0.23893	0.272000	0.18644	0.339000	0.23719	-0.226000	0.12346	ACC		0.602	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			8	162	0	0	0	1	0	8	162					A	143958154	G	A	143958154	3	1	84	1	0	0	0	0	1	0	0	0	4156	1261	44	2	792	2	CYP11B1	8	143958154	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	76616200	143958154	2405868	80	32628											
FOXD4	2298	broad.mit.edu	37	chr9	117757	117757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgtgaggcgcttgtgCgggctttgcaggatggccat	17	9	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					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)		GGCGCTTGTGCGGGCTTTGCA	0.652																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(361-363)ccG>ccA		forkhead box D4							70	102	92					9																	117757		2179	4281	6460	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117757C>T	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.363G>A	9.37:g.117757C>T							p.P121P	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	660	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	121					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.363G>A	CCDS34975.1																																																																																				0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		6	587	0	0	0	1	0	6	587					T	117757	C	T	117757	2	4	84	1	0	0	0	0	0	0	0	1	6024	755	27	1		1	FOXD4	9	117757	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		117757	141095674	81	32629											
GCNT1	2650	broad.mit.edu	37	chr9	79118080	79118080	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaagaagcggtatgaggtCgttaatggaaagctgacaaa	14	4	0	3	rs372561524		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79118080C>T	ENST00000376730.4	+	4	1266	c.783C>T	c.(781-783)gtC>gtT	p.V261V	GCNT1_ENST00000442371.1_Silent_p.V261V|GCNT1_ENST00000444201.2_Silent_p.V261V|GCNT1_ENST00000536223.1_Silent_p.V261V	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	261	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)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GGTATGAGGTCGTTAATGGAA	0.463																																						ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(781-783)gtC>gtT		glucosaminyl (N-acetyl) transferase 1, core 2							104	83	90					9																	79118080		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79118080C>T	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.783C>T	9.37:g.79118080C>T						GCNT1_ENST00000444201.2_Silent_p.V261V|GCNT1_ENST00000536223.1_Silent_p.V261V|GCNT1_ENST00000376730.4_Silent_p.V261V	p.V261V	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1722	+			261			Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.783C>T	CCDS6653.1																																																																																				0.463	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		124	297	0	0	0	1	0	124	297					T	79118080	C	T	79118080	2	4	84	1	0	0	0	0	0	0	0	1	6328	871	31	1		1	GCNT1	9	79118080	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	79000323	79118080	62095351	82	32630											
PRUNE2	158471	broad.mit.edu	37	chr9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcactggggattgccGcacccccactgcagtcatcc	9	17	2	0	rs546948015		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					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						GGGGATTGCCGCACCCCCACT	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.0		0.001	False		,,,				2504	0.0					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2356-2358)gCg>gTg		prune homolog 2 (Drosophila)							121	111	114					9																	79323756		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323756G>A	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.3434C>T	9.37:g.79323756G>A	ENSP00000365908:p.Ala1145Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V	p.A786V			Q8WUY3	PRUN2_HUMAN			8	3557	-			1145					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2357C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851	-0.238399	0.05944	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.08	6.08	0.98989	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	0.218000	0.23608	0.794000	0.32065	0.308000	0.27856	0.910000	0.28571	1.126000	0.42016	-0.254000	0.11334	GCG		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		6	541	0	0	0	1	0	6	541					A	79323756	G	A	79323756	3	1	84	1	0	0	0	0	1	0	0	0	12688	1087	38	1	5880	1	PRUNE2	9	79323756	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	205676	79323756	61889675	83	32631											
FLJ46321	389763	broad.mit.edu	37	chr9	84608089	84608089	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttagttccaacaaacaaaagAtgttggaagcccatattaaa	6	7	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:84608089A>T	ENST00000344803.2	+	4	2751	c.2704A>T	c.(2704-2706)Atg>Ttg	p.M902L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	902					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.M902V(2)									CAAACAAAAGATGTTGGAAGC	0.433																																						ENST00000344803.2																			2	Substitution - Missense(2)	p.M902V(2)	urinary_tract(2)								c.(2704-2706)Atg>Ttg		SPATA31 subfamily D, member 1							62	55	57					9																	84608089		1842	4082	5924	SO:0001583	missense	389763							g.chr9:84608089A>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2704A>T	9.37:g.84608089A>T	ENSP00000341988:p.Met902Leu						p.M902L	NM_001001670.2	NP_001001670.1					4	2751	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2704A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373764	0.24857	.	.	ENSG00000214929	ENST00000344803	T	0.50277	0.75	3.45	0.803	0.18691	.	2.229840	0.01569	N	0.020485	T	0.47192	0.1432	M	0.70275	2.135	0.09310	N	1	B	0.24882	0.113	B	0.24541	0.054	T	0.12967	-1.0527	10	0.38643	T	0.18	2.7162	3.9728	0.09460	0.5691:0.2193:0.0:0.2116	.	902	Q6ZQQ2	F75D1_HUMAN	L	902	ENSP00000341988:M902L	ENSP00000341988:M902L	M	+	1	0	FAM75D1	83797909	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.681000	0.05191	0.052000	0.16007	0.529000	0.55759	ATG		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		88	172	0	0	0	1	0	88	172					T	84608089	A	T	84608089	3	4	84	1	0	0	0	0	1	0	0	0	5957	333	12	5	2718	5	FLJ46321	9	84608089	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	5284333	84608089	56605342	84	32632											
C9orf102	375748	broad.mit.edu	37	chr9	98678110	98678110	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggtgtgttatggacTggtgagagaaaacacttttt	12	4	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:98678110T>A	ENST00000288985.7	+	5	1287	c.982T>A	c.(982-984)Tgg>Agg	p.W328R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Splice_Site_p.W139R	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	328	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										TGTTATGGACTGGTGAGAGAA	0.363																																						ENST00000288985.7																			0											c.e5+1		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							72	68	69					9																	98678110		2203	4300	6503	SO:0001630	splice_region_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678110T>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.983+1T>A	9.37:g.98678110T>A						ERCC6L2_ENST00000437817.1_Splice_Site_p.W139_splice|ERCC6L2_ENST00000466840.1_3'UTR	p.W328_splice	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			5	1287	+			328			Helicase ATP-binding.		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Splice_Site	SNP	ENST00000288985.7	37	c.983_splice	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529846	0.85706	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	D;D	0.92805	-3.11;-3.11	6.06	6.06	0.98353	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.51477	D	0.000087	D	0.96756	0.8941	M	0.89840	3.065	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.997	P;D;D	0.72075	0.832;0.976;0.962	D	0.97414	1.0004	10	0.87932	D	0	-8.9372	16.6093	0.84858	0.0:0.0:0.0:1.0	.	139;10;328	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	R	10;328;139	ENSP00000288985:W328R;ENSP00000416286:W139R	ENSP00000288985:W328R	W	+	1	0	C9orf102	97717931	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.524000	0.67105	2.324000	0.78689	0.533000	0.62120	TGG		0.363	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	Missense_Mutation	92	137	0	0	0	1	0	92	137					A	98678110	T	A	98678110	5	1	84	1	0	0	0	0	0	0	1	0	2452	1594	55	5	1000	5	C9orf102	9	98678110	Splice_Site	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	14070021	98678110	42535321	85	32633											
ABCA1	19	broad.mit.edu	37	chr9	107556682	107556682	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcaccaaacctttccaggGcatcagccattgcctggttt	7	14	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:107556682G>A	ENST00000374736.3	-	40	5886	c.5492C>T	c.(5491-5493)gCc>gTc	p.A1831V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1831					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)	CCTTTCCAGGGCATCAGCCAT	0.468																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5491-5493)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						159	146	151					9																	107556682		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107556682G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5492C>T	9.37:g.107556682G>A	ENSP00000363868:p.Ala1831Val						p.A1831V	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	40	5886	-			1831					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5492C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460143	0.43736	.	.	ENSG00000165029	ENST00000374736	D	0.88664	-2.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.85256	0.5655	L	0.33189	0.99	0.80722	D	1	B	0.27450	0.179	B	0.33960	0.173	T	0.80339	-0.1424	10	0.12430	T	0.62	.	19.6523	0.95822	0.0:0.0:1.0:0.0	.	1831	O95477	ABCA1_HUMAN	V	1831	ENSP00000363868:A1831V	ENSP00000363868:A1831V	A	-	2	0	ABCA1	106596503	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.864000	0.99589	2.641000	0.89580	0.650000	0.86243	GCC		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	662	0	0	0	1	0	6	662					A	107556682	G	A	107556682	3	1	84	1	0	0	0	0	1	0	0	0	28	1203	42	2	1337	2	ABCA1	9	107556682	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	8878572	107556682	33656749	86	32634											
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	13	11	3	2	rs575911571		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					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						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353	352	353					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	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.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		10	1791	0	0	0	1	0	10	1791					T	116049072	C	T	116049072	3	4	84	1	0	0	0	0	1	0	0	0	12617	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	8492390	116049072	25164359	87	32635											
TNC	3371	broad.mit.edu	37	chr9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttctcgcgtccgtttttgCgtctcaggaacacctataaa	8	11	2	0	rs549023811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2029	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						TCCGTTTTTGCGTCTCAGGAA	0.488																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6085-6087)cGc>cAc		tenascin C							167	150	156					9																	117791722		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117791722C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6086G>A	9.37:g.117791722C>T	ENSP00000265131:p.Arg2029His					TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H	p.R2029H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			25	6497	-			2029			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6086G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217894	0.95104	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	D;D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.48	5.48	0.80851	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	H	0.98936	4.375	0.44275	D	0.99713	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97749	1.0213	10	0.87932	D	0	.	19.3449	0.94359	0.0:1.0:0.0:0.0	.	1756;2029	E9PC84;P24821	.;TENA_HUMAN	H	1665;1574;1483;1392;2029;1847;1756;1392;1666	ENSP00000344400:R1665H;ENSP00000438152:R1574H;ENSP00000344555:R1483H;ENSP00000345861:R1392H;ENSP00000265131:R2029H;ENSP00000339553:R1847H;ENSP00000411406:R1756H;ENSP00000443478:R1392H;ENSP00000442242:R1666H	ENSP00000344400:R1665H	R	-	2	0	TNC	116831543	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.363000	0.79516	2.587000	0.87381	0.655000	0.94253	CGC		0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		6	548	0	0	0	1	0	6	548					T	117791722	C	T	117791722	3	4	84	1	0	0	0	0	1	0	0	0	16322	768	27	1	535	1	TNC	9	117791722	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1742650	117791722	23421709	88	32636											
NOTCH1	4851	broad.mit.edu	37	chr9	139404265	139404265	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacgtgtagctgtccacGcagtccgtgcagttggcccc	13	14	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr9:139404265G>A	ENST00000277541.6	-	18	2964	c.2889C>T	c.(2887-2889)tgC>tgT	p.C963C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	963	EGF-like 25; 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)		AGCTGTCCACGCAGTCCGTGC	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(2887-2889)tgC>tgT		notch 1							74	85	81					9																	139404265		2098	4226	6324	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139404265G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2889C>T	9.37:g.139404265G>A		HNSCC(8;0.001)					p.C963C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	18	2964	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	963			EGF-like 25; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.2889C>T	CCDS43905.1																																																																																				0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	662	0	0	0	1	0	6	662					A	139404265	G	A	139404265	2	1	84	1	0	0	0	0	0	0	0	1	10589	1079	38	1		1	NOTCH1	9	139404265	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	21612543	139404265	1809166	89	32637											
GATA3	2625	broad.mit.edu	37	chr10	8100716	8100716	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgtgcccgagtacagCtccggactcttcccccccag	8	20	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:8100716C>A	ENST00000346208.3	+	3	1145	c.690C>A	c.(688-690)agC>agA	p.S230R	GATA3_ENST00000379328.3_Missense_Mutation_p.S230R|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	230					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						CCGAGTACAGCTCCGGACTCT	0.697			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																															ENST00000379328.3				Rec	yes		10	10p15	2625	"F, N, S"	GATA binding protein 3	yes	"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"	E			breast		0				NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						c.(688-690)agC>agA		GATA binding protein 3							45	44	45					10																	8100716		2203	4299	6502	SO:0001583	missense	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100716C>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.690C>A	10.37:g.8100716C>A	ENSP00000341619:p.Ser230Arg					GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S230R	p.S230R	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN			3	1258	+			230					Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	c.690C>A	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846693	0.51164	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96459	-4.02;-4.0	5.55	5.55	0.83447	.	0.098818	0.64402	D	0.000001	D	0.94647	0.8274	L	0.50333	1.59	0.42485	D	0.99287	P;B	0.43826	0.818;0.317	B;B	0.39299	0.296;0.124	D	0.94291	0.7528	10	0.39692	T	0.17	-19.3456	19.5043	0.95108	0.0:1.0:0.0:0.0	.	230;230	P23771;P23771-2	GATA3_HUMAN;.	R	230	ENSP00000368632:S230R;ENSP00000341619:S230R	ENSP00000341619:S230R	S	+	3	2	GATA3	8140722	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.873000	0.56093	2.607000	0.88179	0.561000	0.74099	AGC		0.697	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		86	366	1	0	6.14238e-36	1	6.50548e-36	86	366					A	8100716	C	A	8100716	3	1	84	1	0	0	0	0	1	0	0	0	6283	796	28	3	696	3	GATA3	10	8100716	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		8100716	127434031	90	32638											
PCDH15	65217	broad.mit.edu	37	chr10	55912915	55912915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtgagtgcgtaagtccGcccgactatcatttccaccc	9	15	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:55912915G>A	ENST00000320301.6	-	14	2123	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000373965.2_Missense_Mutation_p.R584W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	577	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)				GCGTAAGTCCGCCCGACTATC	0.483										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.(1750-1752)Cgg>Tgg		protocadherin-related 15							137	119	125					10																	55912915		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55912915G>A	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.1729C>T	10.37:g.55912915G>A	ENSP00000322604:p.Arg577Trp	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Missense_Mutation_p.R555W|PCDH15_ENST00000320301.6_Missense_Mutation_p.R577W|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R540W|PCDH15_ENST00000395445.1_Missense_Mutation_p.R584W|PCDH15_ENST00000414778.1_Missense_Mutation_p.R582W|PCDH15_ENST00000373955.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395433.1_Missense_Mutation_p.R555W|PCDH15_ENST00000395438.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395446.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395430.1_Missense_Mutation_p.R577W|PCDH15_ENST00000437009.1_Missense_Mutation_p.R577W|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.R188W|PCDH15_ENST00000361849.3_Missense_Mutation_p.R577W	p.R584W	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			15	2144	-		Melanoma(3;0.117)|Lung SC(717;0.238)	577			Cadherin 5.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1750C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945863	0.34377	.	.	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	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.83	2.87	0.33458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76751	0.4031	M	0.88979	2.995	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;1.0;1.0;0.997;1.0;1.0;0.994;0.997;0.987;0.997;0.999	D;P;P;P;D;D;D;P;D;D;P;P;P;P;P	0.67725	0.932;0.901;0.901;0.849;0.932;0.932;0.932;0.883;0.953;0.953;0.832;0.832;0.742;0.893;0.901	T	0.66689	-0.5860	9	0.87932	D	0	.	10.5008	0.44804	0.0:0.1241:0.4926:0.3833	.	555;577;577;582;577;540;577;577;584;584;577;582;577;555;577	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	W	584;582;577;577;188;584;577;540;577;555;555;577;577;582;577;577	ENSP00000363076:R584W;ENSP00000410304:R582W;ENSP00000378826:R577W;ENSP00000386693:R188W;ENSP00000378832:R584W;ENSP00000378833:R577W;ENSP00000378820:R540W;ENSP00000354950:R577W;ENSP00000378821:R555W;ENSP00000363068:R555W;ENSP00000322604:R577W;ENSP00000378818:R577W;ENSP00000412628:R577W;ENSP00000363066:R577W	ENSP00000322604:R577W	R	-	1	2	PCDH15	55582921	0.019000	0.18553	0.006000	0.13384	0.053000	0.15095	1.942000	0.40243	0.331000	0.23511	0.650000	0.86243	CGG		0.483	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		149	227	0	0	0	1	0	149	227					A	55912915	G	A	55912915	3	1	84	1	0	0	0	0	1	0	0	0	11553	1086	38	1	5837	1	PCDH15	10	55912915	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	47812199	55912915	79621832	91	32639											
P4HA1	5033	broad.mit.edu	37	chr10	74828652	74828652	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtatccaaattgtaggtatCctggagacgtaacagagctt	10	7	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:74828652C>A	ENST00000307116.2	-	5	531	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000412021.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	139					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)	TTGTAGGTATCCTGGAGACGT	0.398																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(415-417)Gat>Tat		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						180	167	171					10																	74828652		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74828652C>A		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.415G>T	10.37:g.74828652C>A	ENSP00000307318:p.Asp139Tyr					P4HA1_ENST00000307116.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000373008.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000394890.2_Missense_Mutation_p.D139Y|P4HA1_ENST00000440381.1_Missense_Mutation_p.D139Y|P4HA1_ENST00000263556.3_Missense_Mutation_p.D139Y	p.D139Y	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			6	748	-	Prostate(51;0.0198)		139					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.415G>T		.	.	.	.	.	.	.	.	.	.	C	27.9	4.873543	0.91664	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.52526	0.68;0.68;0.68;0.68;0.68;0.66	5.61	5.61	0.85477	Prolyl 4-hydroxylase alpha-subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	H	0.94462	3.54	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	0.84676	0.0714	10	0.87932	D	0	-29.5049	19.6379	0.95744	0.0:1.0:0.0:0.0	.	139;139;139	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	Y	139	ENSP00000307318:D139Y;ENSP00000362099:D139Y;ENSP00000411688:D139Y;ENSP00000378353:D139Y;ENSP00000263556:D139Y;ENSP00000414464:D139Y	ENSP00000263556:D139Y	D	-	1	0	P4HA1	74498658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.374000	0.79633	2.657000	0.90304	0.655000	0.94253	GAT		0.398	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		252	393	1	0	2.27925e-112	1	2.47494e-112	252	393					A	74828652	C	A	74828652	3	1	84	1	0	0	0	0	1	0	0	0	11398	855	30	3	1308	3	P4HA1	10	74828652	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	18915737	74828652	60706095	92	32640											
TACC2	10579	broad.mit.edu	37	chr10	123843041	123843041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgggagcatatctgccGcacgcagagctgccctgggg	15	13	1	1	rs201912981	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr10:123843041G>A	ENST00000369005.1	+	4	1366	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.P342P|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000515603.1_Silent_p.P342P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.P342P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	342					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)				CATATCTGCCGCACGCAGAGC	0.632													g|||	2	0.000399361	0.0	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.002					ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1024-1026)ccG>ccA		transforming, acidic coiled-coil containing protein 2							31	37	35					10																	123843041		2199	4297	6496	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843041G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1026G>A	10.37:g.123843041G>A						TACC2_ENST00000515273.1_Silent_p.P342P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.P342P|TACC2_ENST00000453444.2_Silent_p.P342P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P342P	p.P342P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	1366	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	342					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1026G>A	CCDS7626.1																																																																																				0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			5	488	0	0	0	1	0	5	488					A	123843041	G	A	123843041	2	1	84	1	0	0	0	0	0	0	0	1	15554	1074	38	1		1	TACC2	10	123843041	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	49014389	123843041	11691706	93	32641											
CDHR5	53841	broad.mit.edu	37	chr11	618833	618833	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	catcggctgagaggttcctgGctctggggtctgtgctgtgc	16	10	2	1	rs139058512	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:618833G>C	ENST00000358353.3	-	14	2048	c.1726C>G	c.(1726-1728)Cca>Gca	p.P576A	IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.P576A|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	576	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GAGGTTCCTGGCTCTGGGGTC	0.667																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1726-1728)Cca>Gca		cadherin-related family member 5							107	114	112					11																	618833		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618833G>C	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1726C>G	11.37:g.618833G>C	ENSP00000351118:p.Pro576Ala					CDHR5_ENST00000397542.2_Missense_Mutation_p.P576A|CDHR5_ENST00000349570.7_Intron	p.P576A			Q9HBB8	CDHR5_HUMAN			14	2048	-			576			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.1726C>G	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987565	0.35036	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.44083	0.93;0.93	3.22	3.22	0.36961	.	.	.	.	.	T	0.44180	0.1281	L	0.29908	0.895	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.22836	-1.0205	9	0.02654	T	1	-2.1537	10.1641	0.42868	0.0:0.0:1.0:0.0	.	570;576	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	A	576	ENSP00000380676:P576A;ENSP00000351118:P576A	ENSP00000351118:P576A	P	-	1	0	CDHR5	608833	0.114000	0.22134	0.026000	0.17262	0.004000	0.04260	1.459000	0.35234	1.819000	0.53055	0.555000	0.69702	CCA		0.667	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		7	1199	0	0	0	1	0	7	1199					C	618833	G	C	618833	3	2	84	1	0	0	0	0	1	0	0	0	3131	1203	42	5	823	5	CDHR5	11	618833	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		618833	134387683	94	32642											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077764	19077764	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggacgtagacagagaaggcGttcctgcgcatgcggaagcc	15	10	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:19077764G>A	ENST00000329773.2	-	2	273	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	62			N -> S (in dbSNP:rs10833049). {ECO:0000269|PubMed:15862286, ECO:0000269|Ref.5}.		positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CAGAGAAGGCGTTCCTGCGCA	0.557																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(184-186)aaC>aaT		MAS-related GPR, member X2							82	90	87					11																	19077764		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077764G>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.186C>T	11.37:g.19077764G>A							p.N62N	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	273	-			62		N -> S (in dbSNP:rs10833049).			B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.186C>T	CCDS7847.1																																																																																				0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		89	566	0	0	0	1	0	89	566					A	19077764	G	A	19077764	2	1	84	1	0	0	0	0	0	0	0	1	9808	1136	40	1		1	MRGPRX2	11	19077764	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	18458931	19077764	115928752	95	32643											
NDUFV1	4723	broad.mit.edu	37	chr11	67376194	67376195	+	Splice_Site	DEL	GT	GT	-													aataagccctcagatggcagGtgtgtgtgtgggggcggggc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:67376194_67376195delGT	ENST00000322776.6	+	3	479		c.e3+1		C11orf72_ENST00000333139.3_5'Flank|NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site|RP11-655M14.12_ENST00000533876.1_RNA|C11orf72_ENST00000446232.1_5'Flank|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						CAGATGGCAGGTGTGTGTGTGG	0.599																																						ENST00000322776.6																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16						c.e3+1		NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	NADH(DB00157)																																			SO:0001630	splice_region_variant	4723				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67376194_67376195delGT	AF092131	CCDS8173.1, CCDS53669.1	11q13	2011-07-04	2002-08-29		ENSG00000167792	ENSG00000167792	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7716	protein-coding gene	gene with protein product	"complex I 51kDa subunit", "NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"	161015	"NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)"			1478657	Standard	NM_007103		Approved	CI-51K	uc001omj.2	P49821	OTTHUMG00000166215	ENST00000322776.6:c.326+1GT>-	11.37:g.67376202_67376203delGT						NDUFV1_ENST00000529927.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000526169.1_Splice_Site		NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN			3	479	+								O60924|O60940|Q16104|Q6IBR3|Q96BF8|Q96HS7	Splice_Site	DEL	ENST00000322776.6	37		CCDS8173.1																																																																																				0.599	NDUFV1-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388406.1	NM_007103	Intron	7	589						7	589	---	---	---	---	-	67376195	GT	-	67376194	8	5	84	1	0	1	0	1	0	0	1	0	10341	1275	44	0	337	0	NDUFV1	11	67376194	Splice_Site	DEL	GT	TCGA-IB-A5SP-01A-11D-A32N-08	48298430	67376194	67630322	96	32644											
SHANK2	22941	broad.mit.edu	37	chr11	70332638	70332638	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccggcatccaggctgggccGcattttggtatcaatgtaaa	12	10	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:70332638G>A	ENST00000423696.2	-	15	2659	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1255W|SHANK2_ENST00000409161.1_Missense_Mutation_p.R658W			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	875					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)			AGGCTGGGCCGCATTTTGGTA	0.617																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3763-3765)Cgg>Tgg		SH3 and multiple ankyrin repeat domains 2							81	89	86					11																	70332638		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332638G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2623C>T	11.37:g.70332638G>A	ENSP00000394536:p.Arg875Trp					SHANK2_ENST00000423696.2_Missense_Mutation_p.R875W|SHANK2_ENST00000449833.2_Missense_Mutation_p.R659W|SHANK2_ENST00000409161.1_Missense_Mutation_p.R658W	p.R1255W			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3762	-			875					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3763C>T		.	.	.	.	.	.	.	.	.	.	G	13.50	2.255722	0.39896	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84	4.88	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	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	0.56372	-0.7990	10	0.87932	D	0	.	12.6585	0.56801	0.0:0.0:0.5831:0.4169	.	875;1254;659	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	W	659;658;533;1255;875;893;878	ENSP00000399423:R659W;ENSP00000386491:R658W;ENSP00000402944:R533W;ENSP00000345193:R1255W;ENSP00000394536:R875W;ENSP00000294018:R878W	ENSP00000294018:R878W	R	-	1	2	SHANK2	70010286	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.409000	0.52657	1.026000	0.39733	-0.310000	0.09108	CGG		0.617	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		6	709	0	0	0	1	0	6	709					A	70332638	G	A	70332638	3	1	84	1	0	0	0	0	1	0	0	0	14315	1086	38	1	1797	1	SHANK2	11	70332638	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	2956444	70332638	64673878	97	32645											
C11orf67	28971	broad.mit.edu	37	chr11	77580841	77580841	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagactcttgtgattggccGagggatgagtgaggccttga	15	7	1	5	rs377312233		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:77580841G>A	ENST00000526415.1	+	4	379	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	AAMDC_ENST00000533193.1_Missense_Mutation_p.R115Q|AAMDC_ENST00000304716.8_Missense_Mutation_p.R69Q|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000525034.1_Missense_Mutation_p.R88Q|AAMDC_ENST00000532481.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000393427.2_Missense_Mutation_p.R69Q|AAMDC_ENST00000527134.1_Missense_Mutation_p.R69Q|RP11-91P24.6_ENST00000530972.1_RNA			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	69	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											GTGATTGGCCGAGGGATGAGT	0.502																																						ENST00000527134.1																			0											c.(205-207)cGa>cAa		adipogenesis associated, Mth938 domain containing							327	305	312					11																	77580841		2200	4292	6492	SO:0001583	missense	28971							g.chr11:77580841G>A	BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 67"	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.206G>A	11.37:g.77580841G>A	ENSP00000431808:p.Arg69Gln					AAMDC_ENST00000393427.2_Missense_Mutation_p.R69Q|AAMDC_ENST00000304716.8_Missense_Mutation_p.R69Q|AAMDC_ENST00000533193.1_Missense_Mutation_p.R115Q|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000526415.1_Missense_Mutation_p.R69Q|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000532481.1_Missense_Mutation_p.R69Q|AAMDC_ENST00000525034.1_Missense_Mutation_p.R88Q	p.R69Q							4	354	+								Q96AQ4|Q9Y6B1	Missense_Mutation	SNP	ENST00000526415.1	37	c.206G>A	CCDS8254.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791614	0.90367	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.54	3.64	0.41730	.	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	M	0.72894	2.215	0.42845	D	0.994062	D;P;P	0.89917	1.0;0.48;0.545	D;B;B	0.69654	0.965;0.017;0.07	D	0.87118	0.2189	10	0.72032	D	0.01	-11.3001	12.3594	0.55194	0.1403:0.0:0.8597:0.0	.	69;69;69	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	Q	69;69;69;69;69;115;88	ENSP00000433293:R69Q;ENSP00000431808:R69Q;ENSP00000377078:R69Q;ENSP00000433281:R69Q;ENSP00000307254:R69Q;ENSP00000436086:R115Q;ENSP00000432830:R88Q	ENSP00000307254:R69Q	R	+	2	0	C11orf67	77258489	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.454000	0.73493	1.582000	0.49881	0.650000	0.86243	CGA		0.502	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684		6	868	0	0	0	1	0	6	868					A	77580841	G	A	77580841	3	1	84	1	0	0	0	0	1	0	0	0	1662	1058	37	1	212	1	C11orf67	11	77580841	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	7248203	77580841	57425675	98	32646											
C11orf82	220042	broad.mit.edu	37	chr11	82645017	82645017	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tttccttcagatatgcttggAttccaaggcataggtctagg	10	8	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:82645017A>C	ENST00000533655.1	+	6	2849	c.2637A>C	c.(2635-2637)ggA>ggC	p.G879G	C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000430323.2_Silent_p.G879G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		879					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						ATATGCTTGGATTCCAAGGCA	0.408																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(2635-2637)ggA>ggC		chromosome 11 open reading frame 82							72	71	71					11																	82645017		2203	4300	6503	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82645017A>C																												ENST00000533655.1:c.2637A>C	11.37:g.82645017A>C						C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G578G|C11orf82_ENST00000430323.2_Silent_p.G879G	p.G879G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2849	+			879					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.2637A>C	CCDS8263.1																																																																																				0.408	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			39	297	0	0	0	1	0	39	297					C	82645017	A	C	82645017	2	2	84	1	0	0	0	0	0	0	0	1	1670	320	12	4		4	C11orf82	11	82645017	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	5064176	82645017	52361499	99	32647											
FXYD6	53826	broad.mit.edu	37	chr11	117711040	117711040	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacggacagttaccattggCggtgatgaggttctccacct	11	11	2	2	rs375394300|rs202139278	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117711040C>T	ENST00000526014.1	-	6	848	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P|RP11-728F11.4_ENST00000525260.1_RNA|FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T|FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|RP11-728F11.4_ENST00000581173.2_RNA|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|RP11-728F11.4_ENST00000534150.1_RNA	NM_022003.3	NP_071286.1	Q9H0Q3	FXYD6_HUMAN	FXYD domain containing ion transport regulator 6	85					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)			central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		TTACCATTGGCGGTGATGAGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		20168	0.001		0.001	False		,,,				2504	0.0					ENST00000526014.1																			0				central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8						c.(253-255)Gcc>Acc		FXYD domain containing ion transport regulator 6							107	90	96					11																	117711040		2201	4296	6497	SO:0001583	missense	53826							g.chr11:117711040C>T	BC093040	CCDS8387.1	11q23.3	2010-04-14	2002-01-14		ENSG00000137726	ENSG00000137726			4030	protein-coding gene	gene with protein product	"phosphohippolin"	606683	"FXYD domain-containing ion transport regulator 6"			10950925	Standard	NM_022003		Approved			Q9H0Q3		ENST00000526014.1:c.253G>A	11.37:g.117711040C>T	ENSP00000433312:p.Ala85Thr					FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000584230.1_Missense_Mutation_p.A85T|FXYD6_ENST00000260282.4_Missense_Mutation_p.A85T|FXYD6_ENST00000524656.1_Missense_Mutation_p.A85T|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000539526.1_Missense_Mutation_p.A85T|FXYD6_ENST00000540359.1_Missense_Mutation_p.A85T|FXYD6_ENST00000530956.1_Missense_Mutation_p.A85T|FXYD6_ENST00000529335.2_Intron|FXYD6_ENST00000527717.1_Missense_Mutation_p.A85T|FXYD6_ENST00000527429.1_Missense_Mutation_p.A85T|FXYD6-FXYD2_ENST00000532984.1_Silent_p.P72P	p.A85T	NM_022003.3	NP_071286.1				BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)	6	848	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)						A8K0R4|J3QLD2|Q6FIG9|Q6UW52	Missense_Mutation	SNP	ENST00000526014.1	37	c.253G>A	CCDS8387.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.60	2.285401	0.40394	.	.	ENSG00000137726	ENST00000540359;ENST00000539526;ENST00000260282;ENST00000527717;ENST00000526014;ENST00000524656	T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.44	1.5	0.22942	.	.	.	.	.	T	0.42854	0.1221	.	.	.	0.20703	N	0.999866	B;B	0.17852	0.024;0.005	B;B	0.11329	0.006;0.002	T	0.23868	-1.0176	8	0.31617	T	0.26	.	4.0755	0.09902	0.4491:0.3991:0.0:0.1519	.	85;85	E9PJ02;Q9H0Q3	.;FXYD6_HUMAN	T	85	ENSP00000444243:A85T;ENSP00000442756:A85T;ENSP00000260282:A85T;ENSP00000431446:A85T;ENSP00000433312:A85T;ENSP00000431427:A85T	ENSP00000260282:A85T	A	-	1	0	FXYD6	117216250	0.774000	0.28592	0.493000	0.27502	0.921000	0.55340	0.837000	0.27558	0.394000	0.25230	0.655000	0.94253	GCC		0.597	FXYD6-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392307.1	NM_022003		5	466	0	0	0	1	0	5	466					T	117711040	C	T	117711040	3	4	84	1	0	0	0	0	1	0	0	0	6149	768	27	1	42	1	FXYD6	11	117711040	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	35066023	117711040	17295476	100	32648											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789465	117789465	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgggctggagatgcctggGctggagatgcccggcctgga	18	11	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:117789465G>C	ENST00000430170.2	-	2	197	c.110C>G	c.(109-111)gCc>gGc	p.A37G	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A37G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.A37G	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	37	13 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.632																																						ENST00000528626.1																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20						c.(109-111)gCc>gGc		transmembrane protease, serine 13							45	52	50					11																	117789465		1913	4128	6041	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117789465G>C	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.110C>G	11.37:g.117789465G>C	ENSP00000387702:p.Ala37Gly					TMPRSS13_ENST00000526090.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.A37G|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.A37G|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.A37G	p.A37G	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	2	183	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	37			12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.110C>G	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	g	11.17	1.558527	0.27827	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.88586	-2.4;-2.39;-2.4;-2.38;-2.29	2.09	-0.116	0.13555	.	.	.	.	.	T	0.79499	0.4456	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.66752	-0.5844	9	0.54805	T	0.06	.	9.1712	0.37083	0.0:0.4296:0.5704:0.0	.	37;37	Q9BYE2-4;E9PRA0	.;.	G	37	ENSP00000435813:A37G;ENSP00000434279:A37G;ENSP00000387702:A37G;ENSP00000394114:A37G;ENSP00000436502:A37G	ENSP00000337113:A37G	A	-	2	0	TMPRSS13	117294675	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	0.375000	0.20518	-0.001000	0.14495	-0.542000	0.04241	GCC		0.632	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		6	557	0	0	0	1	0	6	557					C	117789465	G	C	117789465	3	2	84	1	0	0	0	0	1	0	0	0	16297	1203	42	5	1641	5	TMPRSS13	11	117789465	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	78425	117789465	17217051	101	32649											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264020.2_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	484						7	484	---	---	---	---	-	118427685	ATC	-	118427683	7	5	84	1	0	1	0	1	0	0	0	0	7590	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-IB-A5SP-01A-11D-A32N-08	638218	118427683	16578833	102	32650											
NCAPD3	23310	broad.mit.edu	37	chr11	134054844	134054844	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatgctttgcaatatgCccaatcacacagagaatatg	9	8	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr11:134054844C>T	ENST00000534548.2	-	18	2353	c.2289G>A	c.(2287-2289)ggG>ggA	p.G763G	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	763					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)		TTGCAATATGCCCAATCACAC	0.438																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2287-2289)ggG>ggA		non-SMC condensin II complex, subunit D3							308	314	312					11																	134054844		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134054844C>T	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.2289G>A	11.37:g.134054844C>T						RP11-700F16.3_ENST00000531710.1_RNA	p.G763G	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	18	2353	-	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)	763					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2289G>A	CCDS31723.1																																																																																				0.438	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		9	1759	0	0	0	1	0	9	1759					T	134054844	C	T	134054844	2	4	84	1	0	0	0	0	0	0	0	1	10248	726	26	2		2	NCAPD3	11	134054844	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	15627161	134054844	951672	103	32651											
CACNA1C	775	broad.mit.edu	37	chr12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggggcaactacatcaCgtacaaagacggggaggttg	13	9	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:2716164C>T	ENST00000347598.4	+	27	3284	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1075M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					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)	AACTACATCACGTACAAAGAC	0.557																																						ENST00000399655.1																			0				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						c.(3223-3225)aCg>aTg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						63	66	65					12																	2716164		2072	4233	6305	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2716164C>T	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.3284C>T	12.37:g.2716164C>T	ENSP00000266376:p.Thr1095Met					CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1095M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M	p.T1075M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	26	3489	+			1095					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.3224C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.322899	0.41096	.	.	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	0.96685	-4.02;-4.01;-4.05;-4.01;-4.04;-4.01;-4.03;-3.92;-3.97;-4.01;-3.96;-3.94;-4.01;-4.09;-3.96;-3.86;-4.08;-4.02;-4.01;-4.05;-3.96;-4.04;-4.08	4.86	4.86	0.63082	Ion transport (1);	0.202841	0.52532	D	0.000071	D	0.97099	0.9052	L	0.42529	1.33	0.38378	D	0.945041	D;P;B;D;P;P;B;B;B;B;B;B;B;P;P;B;B;P;B;B;P;P;B;B;B	0.89917	1.0;0.466;0.265;1.0;0.719;0.466;0.212;0.224;0.024;0.33;0.239;0.123;0.212;0.469;0.636;0.414;0.4;0.525;0.119;0.239;0.525;0.525;0.286;0.013;0.286	D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.91635	0.999;0.071;0.041;0.999;0.148;0.071;0.091;0.024;0.024;0.071;0.023;0.04;0.091;0.04;0.284;0.034;0.058;0.049;0.04;0.034;0.071;0.049;0.024;0.011;0.047	D	0.97646	1.0151	10	0.46703	T	0.11	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	1075;1072;1095;1075;1075;1075;1075;1075;1075;1095;1075;1046;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1100;1075;1075;1075;1075;1075;1075;1075;1075;1075;1095;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;916	ENSP00000336982:T1100M;ENSP00000382563:T1075M;ENSP00000437936:T1075M;ENSP00000382552:T1075M;ENSP00000382547:T1075M;ENSP00000382506:T1075M;ENSP00000382530:T1075M;ENSP00000382546:T1075M;ENSP00000382500:T1075M;ENSP00000382549:T1075M;ENSP00000266376:T1095M;ENSP00000382515:T1095M;ENSP00000382510:T1075M;ENSP00000341092:T1075M;ENSP00000382537:T1075M;ENSP00000329877:T1075M;ENSP00000382557:T1075M;ENSP00000385724:T1075M;ENSP00000382512:T1075M;ENSP00000382542:T1075M;ENSP00000382526:T1075M;ENSP00000385896:T1075M;ENSP00000382504:T1075M	ENSP00000323129:T916M	T	+	2	0	CACNA1C	2586425	0.139000	0.22563	0.995000	0.50966	0.979000	0.70002	1.089000	0.30890	2.687000	0.91594	0.651000	0.88453	ACG		0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		62	63	0	0	0	1	0	62	63					T	2716164	C	T	2716164	3	4	84	1	0	0	0	0	1	0	0	0	2547	536	19	1	3498	1	CACNA1C	12	2716164	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		2716164	131135731	104	32652											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		49	35	0	0	0	1	0	49	35					T	25398284	C	T	25398284	3	4	84	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	22682120	25398284	108453611	105	32653											
TMEM117	84216	broad.mit.edu	37	chr12	44782362	44782362	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaagtcttcccacctaacCtcggaaaacttgagctcaca	5	14	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:44782362C>T	ENST00000266534.3	+	8	1579	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T380T|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	484						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)		CCCACCTAACCTCGGAAAACT	0.453																																						ENST00000266534.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23						c.(1450-1452)acC>acT		transmembrane protein 117							166	159	161					12																	44782362		2203	4300	6503	SO:0001819	synonymous_variant	84216					endoplasmic reticulum|integral to membrane		g.chr12:44782362C>T	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.1452C>T	12.37:g.44782362C>T						TMEM117_ENST00000536799.1_Silent_p.T380T|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR	p.T484T	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	8	1579	+	Lung SC(27;0.192)		484						Silent	SNP	ENST00000266534.3	37	c.1452C>T	CCDS8745.1																																																																																				0.453	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		263	448	0	0	0	1	0	263	448					T	44782362	C	T	44782362	2	4	84	1	0	0	0	0	0	0	0	1	16083	668	24	2		2	TMEM117	12	44782362	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19384078	44782362	89069533	106	32654											
SFRS2IP	9169	broad.mit.edu	37	chr12	46326986	46326986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgcctaatcaatgcaCtgatttcactggcttctata	5	11	5	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:46326986C>T	ENST00000369367.3	-	9	895	c.662G>A	c.(661-663)aGt>aAt	p.S221N	SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N|SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	221					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						AATCAATGCACTGATTTCACT	0.313																																						ENST00000369367.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(661-663)aGt>aAt		SR-related CTD-associated factor 11							94	89	91					12																	46326986		1819	4071	5890	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46326986C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.662G>A	12.37:g.46326986C>T	ENSP00000358374:p.Ser221Asn					SCAF11_ENST00000419565.2_Missense_Mutation_p.S221N|SCAF11_ENST00000549162.1_Missense_Mutation_p.S29N	p.S221N	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN			9	895	-			221					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.662G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076932	0.20227	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.44083	0.93;1.52;0.93;0.93	5.95	2.7	0.31948	.	0.545330	0.14975	N	0.287606	T	0.22322	0.0538	N	0.19112	0.55	0.23896	N	0.996533	B;B	0.11235	0.004;0.002	B;B	0.13407	0.009;0.004	T	0.21827	-1.0234	10	0.12766	T	0.61	-7.7182	5.2561	0.15548	0.0:0.5262:0.1514:0.3224	.	29;221	F8VXG7;Q99590	.;SCAFB_HUMAN	N	221;29;221;161	ENSP00000358374:S221N;ENSP00000448864:S29N;ENSP00000413036:S221N;ENSP00000446746:S161N	ENSP00000358374:S221N	S	-	2	0	SCAF11	44613253	0.933000	0.31639	1.000000	0.80357	0.930000	0.56654	-0.079000	0.11357	0.836000	0.34901	0.563000	0.77884	AGT		0.313	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		77	150	0	0	0	1	0	77	150					T	46326986	C	T	46326986	3	4	84	1	0	0	0	0	1	0	0	0	14227	565	20	2	3757	2	SFRS2IP	12	46326986	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	1544624	46326986	87524909	107	32655											
MLL2	8085	broad.mit.edu	37	chr12	49427251	49427265	+	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TGCTGCTGCTGCTGT	-													ttgccacctgtcctagaaggTgctgctgctgctgttgctgc					rs398123707		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:49427251_49427265delTGCTGCTGCTGCTGT	ENST00000301067.7	-	39	11222_11236	c.11223_11237delACAGCAGCAGCAGCA	c.(11221-11238)caacagcagcagcagcac>cac	p.QQQQQ3741del	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3741	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)	p.Q3475*(1)|p.Q3745*(1)									TCCTAGAAGGtgctgctgctgctgttgctgctgct	0.591																																						ENST00000301067.7																			2	Substitution - Nonsense(2)	p.Q3475*(1)|p.Q3745*(1)	lung(2)								c.(11221-11238)cac>ca		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49427251_49427265delTGCTGCTGCTGCTGT	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.11223_11237delACAGCAGCAGCAGCA	12.37:g.49427251_49427265delTGCTGCTGCTGCTGT	ENSP00000301067:p.Gln3741_Gln3745del						p.QQQQQH3741del	NM_003482.3	NP_003473.3					39	11222_11236	-								O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.11223_11237delACAGCAGCAGCAGCA	CCDS44873.1																																																																																				0.591	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			35	56						35	56	---	---	---	---	-	49427265	TGCTGCTGCTGCTGT	-	49427251	7	5	84	1	0	1	0	1	0	0	0	0	9662	1696	59	0	5440	0	MLL2	12	49427251	In_Frame_Del	DEL	TGCTGCTGCTGCTGT	TCGA-IB-A5SP-01A-11D-A32N-08	3100265	49427251	84424644	108	32656											
R3HDM2	22864	broad.mit.edu	37	chr12	57677715	57677715	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctttggtgacagggggtcGcatgctccggacagagccat	15	10	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:57677715G>A	ENST00000347140.3	-	13	1411	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000402412.1_Nonsense_Mutation_p.R355*|R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341*			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	341	Ser-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						ACAGGGGGTCGCATGCTCCGG	0.592																																						ENST00000402412.1																			0				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						c.(1063-1065)Cga>Tga		R3H domain containing 2							107	99	102					12																	57677715		2203	4300	6503	SO:0001587	stop_gained	22864					nucleus	nucleic acid binding	g.chr12:57677715G>A	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.1021C>T	12.37:g.57677715G>A	ENSP00000317903:p.Arg341*					R3HDM2_ENST00000441731.2_Nonsense_Mutation_p.R2*|R3HDM2_ENST00000413953.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000403821.2_Nonsense_Mutation_p.R341*|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_Nonsense_Mutation_p.R341*|R3HDM2_ENST00000393811.2_Nonsense_Mutation_p.R68*|R3HDM2_ENST00000358907.2_Nonsense_Mutation_p.R341*	p.R355*			Q9Y2K5	R3HD2_HUMAN			13	1453	-			341			Ser-rich.		Q2M1T9|Q3ZCT5	Nonsense_Mutation	SNP	ENST00000347140.3	37	c.1063C>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	G	37	6.381252	0.97520	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000547262	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3391	16.9803	0.86325	0.0:0.0:1.0:0.0	.	.	.	.	X	68;68;341;355;341;2;106;341;211	.	ENSP00000317903:R341X	R	-	1	2	R3HDM2	55963982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.455000	0.66658	2.544000	0.85801	0.555000	0.69702	CGA		0.592	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		5	521	0	0	0	1	0	5	521					A	57677715	G	A	57677715	4	1	84	1	0	0	0	0	0	1	0	0	12938	1095	38	1	1957	1	R3HDM2	12	57677715	Nonsense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	8250464	57677715	76174180	109	32657											
TRPV4	59341	broad.mit.edu	37	chr12	110236628	110236628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgcgagtcctggcgccGcatgtccgccttcttgtggg	14	15	1	0	rs267607143		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:110236628G>A	ENST00000418703.2	-	5	1037	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W|TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	315			R -> W (in CMT2C). {ECO:0000269|PubMed:20037588, ECO:0000269|PubMed:21115951}.		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						TCCTGGCGCCGCATGTCCGCC	0.612																																						ENST00000418703.2																			0				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						c.(943-945)Cgg>Tgg		transient receptor potential cation channel, subfamily V, member 4							94	76	82					12																	110236628		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236628G>A	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.943C>T	12.37:g.110236628G>A	ENSP00000406191:p.Arg315Trp					TRPV4_ENST00000544971.1_Missense_Mutation_p.R268W|TRPV4_ENST00000392719.2_Missense_Mutation_p.R268W|TRPV4_ENST00000537083.1_Missense_Mutation_p.R315W|TRPV4_ENST00000541794.1_Missense_Mutation_p.R268W|TRPV4_ENST00000261740.2_Missense_Mutation_p.R315W|TRPV4_ENST00000536838.1_Missense_Mutation_p.R281W|TRPV4_ENST00000346520.2_Missense_Mutation_p.R315W	p.R315W	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			5	1037	-			315		R -> W (in CMT2C).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.943C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751278	0.69533	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	4.37	2.43	0.29744	Ankyrin repeat-containing domain (3);	0.055968	0.64402	D	0.000001	T	0.79370	0.4434	L	0.59967	1.855	0.33765	D	0.622362	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;P;D;P;P	0.76575	0.988;0.899;0.985;0.827;0.863	D	0.84213	0.0457	10	0.66056	D	0.02	-17.2861	12.0415	0.53456	0.0:0.0:0.6756:0.3244	.	315;315;268;268;281	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	W	315;315;268;315;268;315;268;281	ENSP00000406191:R315W;ENSP00000261740:R315W;ENSP00000376480:R268W;ENSP00000319003:R315W;ENSP00000443611:R268W;ENSP00000442738:R315W;ENSP00000442167:R268W;ENSP00000444336:R281W	ENSP00000261740:R315W	R	-	1	2	TRPV4	108721011	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	4.154000	0.58125	0.525000	0.28522	0.655000	0.94253	CGG		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		5	444	0	0	0	1	0	5	444					A	110236628	G	A	110236628	3	1	84	1	0	0	0	0	1	0	0	0	16651	1086	38	1	1716	1	TRPV4	12	110236628	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	52558913	110236628	23615267	110	32658											
SDSL	113675	broad.mit.edu	37	chr12	113873183	113873183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagcagtgctgaggaccCcaccaggtgccctggtgctg	14	12	0	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:113873183C>T	ENST00000403593.4	+	6	755	c.493C>T	c.(493-495)Cca>Tca	p.P165S	SDSL_ENST00000345635.4_Missense_Mutation_p.P165S			Q96GA7	SDSL_HUMAN	serine dehydratase-like	165					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GCTGAGGACCCCACCAGGTGC	0.682																																						ENST00000403593.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(493-495)Cca>Tca		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						15	16	16					12																	113873183		2197	4293	6490	SO:0001583	missense	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113873183C>T	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.493C>T	12.37:g.113873183C>T	ENSP00000385790:p.Pro165Ser					SDSL_ENST00000345635.4_Missense_Mutation_p.P165S	p.P165S			Q96GA7	SDSL_HUMAN			6	755	+			165						Missense_Mutation	SNP	ENST00000403593.4	37	c.493C>T	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401157	0.25291	.	.	ENSG00000139410	ENST00000403593;ENST00000553248;ENST00000345635	D;D;D	0.96554	-4.05;-4.05;-4.05	4.49	4.49	0.54785	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.187421	0.42682	D	0.000666	D	0.93255	0.7851	L	0.56280	1.765	0.31826	N	0.625354	B	0.17852	0.024	B	0.14023	0.01	D	0.88786	0.3274	10	0.12430	T	0.62	-12.8961	12.3743	0.55271	0.2143:0.7856:0.0:0.0	.	165	Q96GA7	SDSL_HUMAN	S	165;107;165	ENSP00000385790:P165S;ENSP00000448868:P107S;ENSP00000341117:P165S	ENSP00000341117:P165S	P	+	1	0	SDSL	112357566	0.993000	0.37304	0.998000	0.56505	0.402000	0.30811	3.344000	0.52174	2.209000	0.71365	0.462000	0.41574	CCA		0.682	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		9	89	0	0	0	1	0	9	89					T	113873183	C	T	113873183	3	4	84	1	0	0	0	0	1	0	0	0	14026	623	22	2	511	2	SDSL	12	113873183	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	3636555	113873183	19978712	111	32659											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa					rs188092231|rs369463367		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000542776.1_5'UTR|POP5_ENST00000341039.2_In_Frame_Del_p.E103del	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	668						7	668	---	---	---	---	-	121017156	CTC	-	121017154	7	5	84	1	0	1	0	1	0	0	0	0	12295	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-IB-A5SP-01A-11D-A32N-08	7143971	121017154	12834741	112	32660											
PITPNM2	57605	broad.mit.edu	37	chr12	123472784	123472784	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggggaccctcacccgCagcttcacgtgggtccgctt	13	17	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:123472784C>A	ENST00000542749.1	-	18	3057	c.2994G>T	c.(2992-2994)ctG>ctT	p.L998L	PITPNM2_ENST00000280562.5_Silent_p.L992L|PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000320201.4_Silent_p.L998L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	998					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)		CCCTCACCCGCAGCTTCACGT	0.627																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2974-2976)ctG>ctT		phosphatidylinositol transfer protein, membrane-associated 2							66	71	70					12																	123472784		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123472784C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2994G>T	12.37:g.123472784C>A						PITPNM2_ENST00000320201.4_Silent_p.L998L|PITPNM2_ENST00000392428.1_Silent_p.L719L|PITPNM2_ENST00000542749.1_Silent_p.L998L	p.L992L			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	19	3181	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Silent	SNP	ENST00000542749.1	37	c.2976G>T	CCDS9242.1																																																																																				0.627	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		9	663	1	0	2.17888e-05	1	2.23076e-05	9	663					A	123472784	C	A	123472784	2	1	84	1	0	0	0	0	0	0	0	1	11993	697	25	3		3	PITPNM2	12	123472784	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	2455630	123472784	10379111	113	32661											
CCDC92	80212	broad.mit.edu	37	chr12	124428832	124428832	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actctaccttcatcgtaactCgagaaatgtggtgaagtcat	8	9	3	2	rs148809811		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:124428832C>T	ENST00000238156.3	-	2	375	c.21G>A	c.(19-21)tcG>tcA	p.S7S	CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_5'UTR	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	7						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CATCGTAACTCGAGAAATGTG	0.498																																						ENST00000238156.3																			0				large_intestine(5)|lung(2)	7						c.(19-21)tcG>tcA		coiled-coil domain containing 92		C		0,4406		0,0,2203	88	86	87		21	-1.6	0	12	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC92	NM_025140.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/332	124428832	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80212							g.chr12:124428832C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.21G>A	12.37:g.124428832C>T						CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545891.1_Intron|CCDC92_ENST00000545135.1_5'UTR	p.S7S	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	2	375	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		7					B3KNQ0|Q9H697	Silent	SNP	ENST00000238156.3	37	c.21G>A	CCDS9256.1																																																																																				0.498	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		107	206	0	0	0	1	0	107	206					T	124428832	C	T	124428832	2	4	84	1	0	0	0	0	0	0	0	1	2878	871	31	1		1	CCDC92	12	124428832	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	956048	124428832	9423063	114	32662											
UBC	7316	broad.mit.edu	37	chr12	125398210	125398210	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agcctctgctggtcaggaggGatgccttccttatcttggat	12	10	3	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:125398210G>A	ENST00000538617.1	-	3	424	c.108C>T	c.(106-108)atC>atT	p.I36I	UBC_ENST00000339647.5_Silent_p.I36I|UBC_ENST00000536769.1_Silent_p.I36I|UBC_ENST00000536661.1_5'UTR|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.I36I			P0CG48	UBC_HUMAN	ubiquitin C	416	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTCAGGAGGGATGCCTTCCT	0.527																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(106-108)atC>atT		ubiquitin C							222	208	213					12																	125398210		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398210G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.108C>T	12.37:g.125398210G>A						UBC_ENST00000538617.1_Silent_p.I36I|UBC_ENST00000546120.1_Silent_p.I36I|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000339647.5_Silent_p.I36I	p.I36I			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1684	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		36			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.108C>T																																																																																					0.527	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		8	1089	0	0	0	1	0	8	1089					A	125398210	G	A	125398210	2	1	84	1	0	0	0	0	0	0	0	1	16896	1164	41	2		2	UBC	12	125398210	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	969378	125398210	8453685	115	32663											
GOLGA3	2802	broad.mit.edu	37	chr12	133365860	133365860	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggcgtcgcgccggTaggcctccaccatcacctgc	14	15	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr12:133365860T>G	ENST00000450791.2	-	12	2747	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S			Q08378	GOGA3_HUMAN	golgin A3	855					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)		GTCGCGCCGGTAGGCCTCCAC	0.637																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2563-2565)tAc>tCc		golgin A3							28	25	26					12																	133365860		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133365860T>G	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.2564A>C	12.37:g.133365860T>G	ENSP00000410378:p.Tyr855Ser					GOLGA3_ENST00000537452.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.Y855S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Y855S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Y855S	p.Y855S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	13	3122	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	855					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2564A>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636969	0.87760	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.37058	1.68;1.68;1.69;1.22;1.22	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57957	-0.7721	10	0.29301	T	0.29	.	15.4572	0.75325	0.0:0.0:0.0:1.0	.	855;855;855	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	855	ENSP00000204726:Y855S;ENSP00000410378:Y855S;ENSP00000409303:Y855S;ENSP00000442143:Y855S;ENSP00000442603:Y855S	ENSP00000204726:Y855S	Y	-	2	0	GOLGA3	131875933	1.000000	0.71417	0.996000	0.52242	0.734000	0.41952	7.959000	0.87885	2.064000	0.61679	0.460000	0.39030	TAC		0.637	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		8	210	0	0	0	1	0	8	210					G	133365860	T	G	133365860	3	3	84	1	0	0	0	0	1	0	0	0	6583	1638	57	4	2118	4	GOLGA3	12	133365860	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	7967650	133365860	486035	116	32664											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	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.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	12	443						12	443	---	---	---	---	-	27250863	GT	-	27250862	8	5	84	1	0	1	0	1	0	0	1	0	17308	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-IB-A5SP-01A-11D-A32N-08		27250862	87919016	117	32665											
GPC5	2262	broad.mit.edu	37	chr13	92380846	92380846	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaagcccccgttgttcttttGatcagagcaaagagaagcat	9	9	2	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:92380846G>T	ENST00000377067.3	+	4	1453	c.1081G>T	c.(1081-1083)Gat>Tat	p.D361Y	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	361					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)				TTGTTCTTTTGATCAGAGCAA	0.398																																						ENST00000377067.3																			0				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						c.(1081-1083)Gat>Tat		glypican 5							125	130	128					13																	92380846		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92380846G>T	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.1081G>T	13.37:g.92380846G>T	ENSP00000366267:p.Asp361Tyr					GPC5_ENST00000483422.1_3'UTR	p.D361Y	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			4	1453	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	361					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.1081G>T	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682939	0.68157	.	.	ENSG00000179399	ENST00000377067	T	0.55234	0.53	5.88	5.04	0.67666	.	0.478094	0.24502	N	0.037975	T	0.64091	0.2567	M	0.72894	2.215	0.37269	D	0.907309	P	0.44877	0.845	P	0.52514	0.701	T	0.72221	-0.4356	10	0.72032	D	0.01	2.7075	12.1984	0.54311	0.0779:0.0:0.9221:0.0	.	361	P78333	GPC5_HUMAN	Y	361	ENSP00000366267:D361Y	ENSP00000366267:D361Y	D	+	1	0	GPC5	91178847	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	3.232000	0.51302	1.499000	0.48617	0.557000	0.71058	GAT		0.398	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		5	508	1	0	0.0215528	1	0.0217551	5	508					T	92380846	G	T	92380846	3	4	84	1	0	0	0	0	1	0	0	0	6630	1290	45	3	1095	3	GPC5	13	92380846	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	65129984	92380846	22789032	118	32666											
RASA3	22821	broad.mit.edu	37	chr13	114773065	114773065	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtctcttctccccgaggaCgaaatcagatccaagaacta	9	12	3	2	rs557790275		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr13:114773065C>T	ENST00000334062.7	-	18	1807	c.1686G>A	c.(1684-1686)tcG>tcA	p.S562S	RASA3_ENST00000389544.4_Silent_p.S530S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	562					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCCCCGAGGACGAAATCAGAT	0.552													c|||	1	0.000199681	0.0	0.0	5008	,	,		21135	0.001		0.0	False		,,,				2504	0.0					ENST00000334062.7																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1684-1686)tcG>tcA		RAS p21 protein activator 3							114	94	101					13																	114773065		2201	4298	6499	SO:0001819	synonymous_variant	22821				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	g.chr13:114773065C>T		CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1686G>A	13.37:g.114773065C>T						RASA3_ENST00000389544.4_Silent_p.S530S	p.S562S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.128)		18	1807	-	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	562					A6NL15|F8W6X8|Q8IUY2	Silent	SNP	ENST00000334062.7	37	c.1686G>A	CCDS32016.1																																																																																				0.552	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	NM_007368		84	136	0	0	0	1	0	84	136					T	114773065	C	T	114773065	2	4	84	1	0	0	0	0	0	0	0	1	13112	523	19	1		1	RASA3	13	114773065	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	22392219	114773065	396813	119	32667											
MMP14	4323	broad.mit.edu	37	chr14	23312996	23312996	+	Frame_Shift_Del	DEL	A	A	-													cttctgttcctgataaacccAaaaaccccacctatgggccc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:23312996delA	ENST00000311852.6	+	6	1189	c.928delA	c.(928-930)aaafs	p.K310fs	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	310					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGATAAACCCAAAAACCCCAC	0.577																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(928-930)aafs		matrix metallopeptidase 14 (membrane-inserted)							107	115	112					14																	23312996		2203	4300	6503	SO:0001589	frameshift_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312996delA		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.928delA	14.37:g.23312996delA	ENSP00000308208:p.Lys310fs					MMP14_ENST00000548162.1_3'UTR	p.K310fs	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	6	1189	+	all_cancers(95;9.47e-05)		310					A8K5L0|Q6GSF3|Q92678	Frame_Shift_Del	DEL	ENST00000311852.6	37	c.928delA	CCDS9577.1																																																																																				0.577	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		7	831						7	831	---	---	---	---	-	23312996	A	-	23312996	7	5	84	1	0	1	0	1	0	0	0	0	9694	131	5	0	950	0	MMP14	14	23312996	Frame_Shift_Del	DEL	A	TCGA-IB-A5SP-01A-11D-A32N-08		23312996	84036544	120	32668											
CBLN3	643866	broad.mit.edu	37	chr14	24897533	24897533	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcaccacatggaaccGgaagctgtagacaccccgga	9	15	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:24897533G>A	ENST00000267406.6	-	2	849	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	CBLN3_ENST00000555436.1_Missense_Mutation_p.R76W|KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000553935.1_5'Flank|KHNYN_ENST00000556842.1_5'Flank	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	127	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		ACATGGAACCGGAAGCTGTAG	0.652																																						ENST00000267406.6																			0				central_nervous_system(1)|lung(3)	4						c.(379-381)Cgg>Tgg		cerebellin 3 precursor							85	94	91					14																	24897533		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897533G>A	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.379C>T	14.37:g.24897533G>A	ENSP00000267406:p.Arg127Trp					CBLN3_ENST00000555436.1_Missense_Mutation_p.R76W	p.R127W	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	2	849	-			127			C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).			Missense_Mutation	SNP	ENST00000267406.6	37	c.379C>T	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428448	0.62844	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.75367	-0.93;-0.93	5.45	5.45	0.79879	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.138983	0.33401	N	0.004956	T	0.64316	0.2587	L	0.34521	1.04	0.45439	D	0.998411	B	0.14805	0.011	B	0.04013	0.001	T	0.62927	-0.6750	10	0.87932	D	0	-16.9282	11.8069	0.52161	0.0:0.0:0.8247:0.1753	.	127	Q6UW01	CBLN3_HUMAN	W	127;76	ENSP00000267406:R127W;ENSP00000450935:R76W	ENSP00000267406:R127W	R	-	1	2	CBLN3	23967373	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.482000	0.66833	2.542000	0.85734	0.561000	0.74099	CGG		0.652	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		6	728	0	0	0	1	0	6	728					A	24897533	G	A	24897533	3	1	84	1	0	0	0	0	1	0	0	0	2713	1115	39	1	246	1	CBLN3	14	24897533	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1584537	24897533	82452007	121	32669											
CTAGE5	4253	broad.mit.edu	37	chr14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T													ttggattttttgctgttctcINSttttttttgtggagaagttt					rs75842899|rs78536283	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					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)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	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.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		7	290						7	290	---	---	---	---	T	39746243	-	T	39746242	7	5	84	1	0	1	1	0	0	0	0	0	4005	900	32	0	205	0	CTAGE5	14	39746242	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	14848709	39746242	67603298	122	32670											
MAP3K9	4293	broad.mit.edu	37	chr14	71209085	71209085	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccagaagggaggctgatgCggttgccatccttgagcttc	14	10	0	3	rs200816838		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:71209085C>T	ENST00000554752.2	-	6	1549	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	517				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4). {ECO:0000305}.	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)		GAGGCTGATGCGGTTGCCATC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18722	0.001		0.0	False		,,,				2504	0.0				GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(1549-1551)cGc>cAc		mitogen-activated protein kinase kinase kinase 9							100	94	96					14																	71209085		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71209085C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1550G>A	14.37:g.71209085C>T	ENSP00000451612:p.Arg517His					MAP3K9_ENST00000553414.1_Missense_Mutation_p.R211H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R254H|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R517H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R517H	p.R517H			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	6	1549	-			517	KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).				A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.1550G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.47	1.947067	0.34377	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	6.06	5.17	0.71159	Protein kinase-like domain (1);	0.211843	0.49305	D	0.000141	T	0.07413	0.0187	N	0.25245	0.725	0.50171	D	0.999854	B;B;B;B	0.20261	0.001;0.025;0.043;0.005	B;B;B;B	0.20577	0.005;0.009;0.03;0.013	T	0.28332	-1.0047	10	0.35671	T	0.21	.	7.1057	0.25362	0.1401:0.71:0.0:0.1499	.	254;517;517;211	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	H	517;517;211;517;254;245	ENSP00000451612:R517H;ENSP00000451038:R211H;ENSP00000370649:R517H;ENSP00000451921:R254H	ENSP00000005198:R517H	R	-	2	0	MAP3K9	70278838	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.617000	0.54181	1.577000	0.49804	-0.150000	0.13652	CGC		0.602	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			5	646	0	0	0	1	0	5	646					T	71209085	C	T	71209085	3	4	84	1	0	0	0	0	1	0	0	0	9298	768	27	1	1838	1	MAP3K9	14	71209085	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	31462843	71209085	36140455	123	32671											
KIF26A	26153	broad.mit.edu	37	chr14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcctcccccggaaacCgaggactgcctctgccacca	8	20	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr14:104642766C>T	ENST00000423312.2	+	12	3641	c.3641C>T	c.(3640-3642)cCg>cTg	p.P1214L	KIF26A_ENST00000315264.7_Missense_Mutation_p.P1075L	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					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)		CCCCGGAAACCGAGGACTGCC	0.721																																						ENST00000315264.7																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21						c.(3223-3225)cCg>cTg		kinesin family member 26A							17	22	21					14																	104642766		1956	4126	6082	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104642766C>T	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.3641C>T	14.37:g.104642766C>T	ENSP00000388241:p.Pro1214Leu					KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L	p.P1075L			Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	11	3602	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1214					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.3224C>T	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580981	0.00879	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76448	-1.02;-1.02	3.6	0.264	0.15607	.	.	.	.	.	T	0.68146	0.2969	M	0.64404	1.975	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.51601	-0.8685	9	0.21540	T	0.41	.	4.6768	0.12715	0.2952:0.5102:0.0:0.1946	.	1214	Q9ULI4	KI26A_HUMAN	L	1214;1075	ENSP00000388241:P1214L;ENSP00000325452:P1075L	ENSP00000325452:P1075L	P	+	2	0	KIF26A	103712519	0.002000	0.14202	0.002000	0.10522	0.106000	0.19336	0.517000	0.22832	0.199000	0.20427	-1.026000	0.02426	CCG		0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			53	102	0	0	0	1	0	53	102					T	104642766	C	T	104642766	3	4	84	1	0	0	0	0	1	0	0	0	8324	652	23	1	3687	1	KIF26A	14	104642766	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	33433681	104642766	2706774	124	32672											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827457	43827457	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccataggtggcacctgtggGgactgatttggttcaaaaag	13	7	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:43827457G>A	ENST00000396923.3	-	30	3838	c.3717C>T	c.(3715-3717)tcC>tcT	p.S1239S	PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000420765.1_Silent_p.S1239S|PPIP5K1_ENST00000381879.4_Silent_p.S1215S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1239					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						GCACCTGTGGGGACTGATTTG	0.562																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(3715-3717)tcC>tcT		diphosphoinositol pentakisphosphate kinase 1							91	90	91					15																	43827457		2201	4298	6499	SO:0001819	synonymous_variant	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827457G>A	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.3717C>T	15.37:g.43827457G>A						PPIP5K1_ENST00000381879.4_Silent_p.S1215S|PPIP5K1_ENST00000381885.1_Silent_p.S1235S|PPIP5K1_ENST00000360301.4_Silent_p.S1214S|PPIP5K1_ENST00000396923.3_Silent_p.S1239S|PPIP5K1_ENST00000360135.4_Silent_p.S1212S|PPIP5K1_ENST00000348806.6_Silent_p.S1212S|PPIP5K1_ENST00000334933.4_Silent_p.S1214S	p.S1239S	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			31	3899	-			1239					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Silent	SNP	ENST00000396923.3	37	c.3717C>T	CCDS45252.1																																																																																				0.562	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		240	390	0	0	0	1	0	240	390					A	43827457	G	A	43827457	2	1	84	1	0	0	0	0	0	0	0	1	12379	1219	43	2		2	PPIP5K1	15	43827457	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		43827457	58703935	125	32673											
TLN2	83660	broad.mit.edu	37	chr15	63032911	63032911	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctgctgttagctgccaagtCtctctctgtagatccaggag	11	11	2	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr15:63032911C>T	ENST00000561311.1	+	31	4198	c.3968C>T	c.(3967-3969)tCt>tTt	p.S1323F	TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F			Q9Y4G6	TLN2_HUMAN	talin 2	1323					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)	p.S1323Y(1)		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						GCTGCCAAGTCTCTCTCTGTA	0.493																																						ENST00000561311.1																			1	Substitution - Missense(1)	p.S1323Y(1)	large_intestine(1)	NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(3967-3969)tCt>tTt		talin 2							84	75	78					15																	63032911		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63032911C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3968C>T	15.37:g.63032911C>T	ENSP00000453508:p.Ser1323Phe					TLN2_ENST00000306829.6_Missense_Mutation_p.S1323F	p.S1323F			Q9Y4G6	TLN2_HUMAN			31	4198	+			1323					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.3968C>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126628	0.56721	.	.	ENSG00000171914	ENST00000306829	T	0.14893	2.47	5.87	5.87	0.94306	.	0.094038	0.85682	D	0.000000	T	0.20820	0.0501	L	0.49126	1.545	0.80722	D	1	B	0.11235	0.004	B	0.12837	0.008	T	0.04281	-1.0963	10	0.23302	T	0.38	-13.3132	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1323	Q9Y4G6	TLN2_HUMAN	F	1323	ENSP00000303476:S1323F	ENSP00000303476:S1323F	S	+	2	0	TLN2	60820203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.941000	0.99782	0.655000	0.94253	TCT		0.493	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			67	213	0	0	0	1	0	67	213					T	63032911	C	T	63032911	3	4	84	1	0	0	0	0	1	0	0	0	16000	913	32	2	4082	2	TLN2	15	63032911	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	19205454	63032911	39498481	126	32674											
CLDN9	9080	broad.mit.edu	37	chr16	3063749	3063749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatcctcctcctcgccgGcatcctggtgctcatccctg	9	18	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:3063749G>A	ENST00000445369.2	+	1	1293	c.386G>A	c.(385-387)gGc>gAc	p.G129D		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	129					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						CTCCTCGCCGGCATCCTGGTG	0.662																																						ENST00000445369.2																			0				endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						c.(385-387)gGc>gAc		claudin 9							89	87	88					16																	3063749		2198	4300	6498	SO:0001583	missense	9080				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3063749G>A	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.386G>A	16.37:g.3063749G>A	ENSP00000398017:p.Gly129Asp						p.G129D	NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN			1	1293	+			129						Missense_Mutation	SNP	ENST00000445369.2	37	c.386G>A	CCDS10487.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568874	0.45798	.	.	ENSG00000213937	ENST00000445369	D	0.90324	-2.65	4.85	2.9	0.33743	.	0.137049	0.47093	N	0.000253	D	0.95661	0.8589	M	0.93854	3.465	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94689	0.7872	10	0.87932	D	0	.	8.8758	0.35345	0.1824:0.0:0.8176:0.0	.	129	O95484	CLD9_HUMAN	D	129	ENSP00000398017:G129D	ENSP00000398017:G129D	G	+	2	0	CLDN9	3003750	1.000000	0.71417	0.123000	0.21794	0.926000	0.56050	4.067000	0.57527	0.633000	0.30452	0.563000	0.77884	GGC		0.662	CLDN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250989.1	NM_020982		6	853	0	0	0	1	0	6	853					A	3063749	G	A	3063749	3	1	84	1	0	0	0	0	1	0	0	0	3501	1203	42	2	388	2	CLDN9	16	3063749	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		3063749	87291004	127	32675											
NMRAL1	57407	broad.mit.edu	37	chr16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaaatagcagggcagccGcacactggtcatgggaacgc	12	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572																																						ENST00000574733.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						c.(451-453)Cgg>Tgg		NmrA-like family domain containing 1							95	89	91					16																	4516232		2197	4300	6497	SO:0001583	missense	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4516232G>A	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"Short chain dehydrogenase/reductase superfamily / Atypical members"	24987	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 48A, member 1"					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.451C>T	16.37:g.4516232G>A	ENSP00000458762:p.Arg151Trp					NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W	p.R151W			Q9HBL8	NMRL1_HUMAN			4	1180	-			151						Missense_Mutation	SNP	ENST00000574733.1	37	c.451C>T	CCDS10516.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804190	0.70682	.	.	ENSG00000153406	ENST00000283429;ENST00000404295	T;T	0.48836	0.8;0.8	5.84	3.85	0.44370	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.64402	D	0.000005	T	0.64316	0.2587	M	0.68952	2.095	0.47862	D	0.999539	D	0.89917	1.0	D	0.97110	1.0	T	0.62034	-0.6939	10	0.35671	T	0.21	-32.0395	12.9284	0.58272	0.0:0.0:0.7042:0.2958	.	151	Q9HBL8	NMRL1_HUMAN	W	151	ENSP00000283429:R151W;ENSP00000383962:R151W	ENSP00000283429:R151W	R	-	1	2	NMRAL1	4456233	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.199000	0.51043	0.786000	0.33708	-0.309000	0.09137	CGG		0.572	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		5	386	0	0	0	1	0	5	386					A	4516232	G	A	4516232	3	1	84	1	0	0	0	0	1	0	0	0	10543	1086	38	1	460	1	NMRAL1	16	4516232	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1452483	4516232	85838521	128	32676											
ERCC4	2072	broad.mit.edu	37	chr16	14014215	14014215	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctggtgctcaacacgCagccggccgaggaggtgcgg	18	11	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:14014215C>T	ENST00000311895.7	+	1	202	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	65	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						GCTCAACACGCAGCCGGCCGA	0.697			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000311895.7			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 4"			E		"skin basal cell, skin squamous cell, melanoma"			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(193-195)Cag>Tag	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 4							10	11	10					16																	14014215		2174	4277	6451	SO:0001587	stop_gained	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14014215C>T	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.193C>T	16.37:g.14014215C>T	ENSP00000310520:p.Gln65*					ERCC4_ENST00000575156.1_Nonsense_Mutation_p.Q65*	p.Q65*	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN			1	202	+			65					A5PKV6|A8K111|O00140|Q8TD83	Nonsense_Mutation	SNP	ENST00000311895.7	37	c.193C>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	37	6.363938	0.97507	.	.	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	.	.	.	4.98	4.98	0.66077	.	0.436137	0.26696	N	0.022966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-25.2254	11.0818	0.48064	0.2766:0.7234:0.0:0.0	.	.	.	.	X	65;54;54	.	ENSP00000310520:Q65X	Q	+	1	0	ERCC4	13921716	0.976000	0.34144	1.000000	0.80357	0.937000	0.57800	3.363000	0.52321	2.741000	0.93983	0.655000	0.94253	CAG		0.697	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		37	39	0	0	0	1	0	37	39					T	14014215	C	T	14014215	4	4	84	1	0	0	0	0	0	1	0	0	5233	711	25	2	195	2	ERCC4	16	14014215	Nonsense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	9497983	14014215	76340538	129	32677											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				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						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	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.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		9	656						9	656	---	---	---	---	-	15729984	CCA	-	15729982	7	5	84	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-IB-A5SP-01A-11D-A32N-08	1715767	15729982	74624771	130	32678											
IL21R	50615	broad.mit.edu	37	chr16	27448836	27448836	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtatgaagagctgaaggaCgaggccacctcctgcagcct	12	12	0	3	rs370550834		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:27448836C>T	ENST00000337929.3	+	4	653	c.180C>T	c.(178-180)gaC>gaT	p.D60D	IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	60	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCTGAAGGACGAGGCCACCT	0.597			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(178-180)gaC>gaT		interleukin 21 receptor		C	,,	1,4393	2.1+/-5.4	0,1,2196	100	79	86		180,180,246	-9.3	0	16		86	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IL21R	NM_021798.3,NM_181078.2,NM_181079.4	,,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,,	60/539,60/539,82/561	27448836	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27448836C>T	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"Interleukins and interleukin receptors", "CD molecules"	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.180C>T	16.37:g.27448836C>T						IL21R_ENST00000395755.1_Silent_p.D60D|IL21R_ENST00000395754.4_Silent_p.D60D|IL21R_ENST00000564089.1_Silent_p.D60D	p.D60D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			4	653	+			60					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.180C>T	CCDS10630.1																																																																																				0.597	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		9	392	0	0	0	1	0	9	392					T	27448836	C	T	27448836	2	4	84	1	0	0	0	0	0	0	0	1	7701	535	19	1		1	IL21R	16	27448836	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	11718854	27448836	62905917	131	32679											
ATXN2L	11273	broad.mit.edu	37	chr16	28847356	28847356	+	Frame_Shift_Del	DEL	C	C	-													caccccagagtcatggggggCccccccaaggcgcggtgccc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:28847356delC	ENST00000336783.4	+	22	3165	c.2998delC	c.(2998-3000)cccfs	p.P1001fs	ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1001					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						TCATGGGGGGCCCCCCCAAGG	0.687																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2998-3000)ccfs		ataxin 2-like							30	40	37					16																	28847356		2145	4238	6383	SO:0001589	frameshift_variant	11273					membrane		g.chr16:28847356delC		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.2998delC	16.37:g.28847356delC	ENSP00000338718:p.Pro1001fs					ATXN2L_ENST00000325215.6_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000395547.2_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000382686.4_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000340394.8_Frame_Shift_Del_p.P1001fs|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Frame_Shift_Del_p.P1001fs|ATXN2L_ENST00000564304.1_Frame_Shift_Del_p.P1007fs	p.P1001fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			22	3165	+			1001					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Frame_Shift_Del	DEL	ENST00000336783.4	37	c.2998delC	CCDS10641.1																																																																																				0.687	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		7	814						7	814	---	---	---	---	-	28847356	C	-	28847356	7	5	84	1	0	1	0	1	0	0	0	0	1213	739	26	0	3084	0	ATXN2L	16	28847356	Frame_Shift_Del	DEL	C	TCGA-IB-A5SP-01A-11D-A32N-08	1398520	28847356	61507397	132	32680											
ZNF629	23361	broad.mit.edu	37	chr16	30793261	30793261	+	Frame_Shift_Del	DEL	G	G	-													ggaggggggtcctcgggattGgggggtttttcctgggtgtg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:30793261delG	ENST00000262525.4	-	3	2595	c.2388delC	c.(2386-2388)cccfs	p.P796fs	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			CCTCGGGATTGGGGGGTTTTT	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2386-2388)ccfs		zinc finger protein 629							80	94	90					16																	30793261		1905	4111	6016	SO:0001589	frameshift_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793261delG	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.2388delC	16.37:g.30793261delG	ENSP00000262525:p.Pro796fs						p.P796fs	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2595	-			796					Q15938	Frame_Shift_Del	DEL	ENST00000262525.4	37	c.2388delC	CCDS45463.1																																																																																				0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		8	1314						8	1314	---	---	---	---	-	30793261	G	-	30793261	7	5	84	1	0	1	0	1	0	0	0	0	18106	1335	47	0	225	0	ZNF629	16	30793261	Frame_Shift_Del	DEL	G	TCGA-IB-A5SP-01A-11D-A32N-08	1945905	30793261	59561492	133	32681											
OGFOD1	55239	broad.mit.edu	37	chr16	56509438	56509439	+	Frame_Shift_Ins	INS	-	-	G													gctgggagccagaatatggcINSggttttacttcttacattgc					rs200387944|rs181095853	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:56509438_56509439insG	ENST00000566157.1	+	12	1551_1552	c.1428_1429insG	c.(1429-1431)ggtfs	p.G477fs	OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.G434fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	477					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CAGAATATGGCGGTTTTACTTC	0.371																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1426-1431)gggtttfs		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)																																			SO:0001589	frameshift_variant	55239						iron ion binding|L-ascorbic acid binding|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|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56509438_56509439insG	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.1430dupG	16.37:g.56509440_56509440dupG	ENSP00000457258:p.Gly477fs					OGFOD1_ENST00000568397.1_Frame_Shift_Ins_p.F434fs	p.F477fs	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			12	1551_1552	+			477					H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Ins	INS	ENST00000566157.1	37	c.1428_1429insG	CCDS10761.2																																																																																				0.371	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		8	584						8	584	---	---	---	---	G	56509439	-	G	56509438	7	5	84	1	0	1	1	0	0	0	0	0	10883	755	27	0	1474	0	OGFOD1	16	56509438	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	25716177	56509438	33845315	134	32682											
RRAD	6236	broad.mit.edu	37	chr16	66956197	66956197	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcctggacattgtggtGcaatgccgctgatgtctcaa	12	11	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr16:66956197G>A	ENST00000299759.6	-	5	959	c.709C>T	c.(709-711)Cac>Tac	p.H237Y	RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y			P55042	RAD_HUMAN	Ras-related associated with diabetes	237					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACATTGTGGTGCAATGCCGCT	0.602																																						ENST00000299759.6																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(709-711)Cac>Tac		Ras-related associated with diabetes							78	66	70					16																	66956197		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66956197G>A	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.709C>T	16.37:g.66956197G>A	ENSP00000299759:p.His237Tyr					RRAD_ENST00000420652.1_Missense_Mutation_p.H237Y	p.H237Y			P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	5	959	-		Ovarian(137;0.192)	237					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.709C>T	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142870	0.77888	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.79653	-1.29;-1.29	5.93	5.93	0.95920	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88522	0.6459	M	0.69823	2.125	0.80722	D	1	D	0.62365	0.991	P	0.59546	0.859	D	0.88586	0.3140	10	0.72032	D	0.01	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	237	P55042	RAD_HUMAN	Y	237	ENSP00000388744:H237Y;ENSP00000299759:H237Y	ENSP00000299759:H237Y	H	-	1	0	RRAD	65513698	1.000000	0.71417	0.998000	0.56505	0.449000	0.32228	9.471000	0.97696	2.802000	0.96397	0.561000	0.74099	CAC		0.602	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		5	411	0	0	0	1	0	5	411					A	66956197	G	A	66956197	3	1	84	1	0	0	0	0	1	0	0	0	13721	1319	46	2	221	2	RRAD	16	66956197	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	10446759	66956197	23398556	135	32683											
GEMIN4	50628	broad.mit.edu	37	chr17	650531	650531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcgtcctctgtcagcGcaaacacagtcagcatgtca	12	12	4	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(718-720)gCg>gTg		gem (nuclear organelle) associated protein 4							87	95	92					17																	650531		2176	4267	6443	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650531G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.752C>T	17.37:g.650531G>A	ENSP00000321706:p.Ala251Val					GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V	p.A240V			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2060	-		Myeloproliferative disorder(207;0.204)	251					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.719C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		5	551	0	0	0	1	0	5	551					A	650531	G	A	650531	3	1	84	1	0	0	0	0	1	0	0	0	6359	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		650531	80544679	136	32684											
PHF23	79142	broad.mit.edu	37	chr17	7139572	7139572	+	Frame_Shift_Del	DEL	T	T	-													gtctatccccccgttctgccTtttttaacttccgcttcttg							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7139572delT	ENST00000320316.3	-	4	900	c.674delA	c.(673-675)aagfs	p.K225fs	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000454255.2_Frame_Shift_Del_p.K221fs|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000576955.1_Frame_Shift_Del_p.K95fs|PHF23_ENST00000571362.1_Frame_Shift_Del_p.K158fs|DVL2_ENST00000575458.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	225							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CCGTTCTGCCTTTTTTAACTT	0.577																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(673-675)agfs		PHD finger protein 23							115	125	122					17																	7139572		1890	4105	5995	SO:0001589	frameshift_variant	79142						zinc ion binding	g.chr17:7139572delT	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"Zinc fingers, PHD-type"	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.674delA	17.37:g.7139572delT	ENSP00000322579:p.Lys225fs					PHF23_ENST00000454255.2_Frame_Shift_Del_p.K221fs|PHF23_ENST00000576955.1_Frame_Shift_Del_p.K95fs|PHF23_ENST00000571362.1_Frame_Shift_Del_p.K158fs	p.K225fs	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN			4	900	-			225					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Frame_Shift_Del	DEL	ENST00000320316.3	37	c.674delA	CCDS42250.1																																																																																				0.577	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		7	633						7	633	---	---	---	---	-	7139572	T	-	7139572	7	5	84	1	0	1	0	1	0	0	0	0	11877	1609	56	0	545	0	PHF23	17	7139572	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	6489041	7139572	74055638	137	32685											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	11	10	1	0	rs397516437|rs28934573		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tTc	Other conserved DNA damage response genes	tumor protein p53							139	108	118					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F	p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|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).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		107	110	0	0	0	1	0	107	110					A	7577559	G	A	7577559	3	1	84	1	0	0	0	0	1	0	0	0	16434	1174	41	2	568	2	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	437987	7577559	73617651	138	32686											
MYO15A	51168	broad.mit.edu	37	chr17	18023559	18023559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caagttccgcctcttcccgcGaccccaggtgaagctgtttg	10	15	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:18023559G>A	ENST00000205890.5	+	2	1783	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	482					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)					CTCTTCCCGCGACCCCAGGTG	0.632																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1444-1446)cGa>cAa		myosin XVA							38	45	43					17																	18023559		2049	4191	6240	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023559G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1445G>A	17.37:g.18023559G>A	ENSP00000205890:p.Arg482Gln						p.R482Q	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1783	+	all_neural(463;0.228)		482			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1445G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131602	0.77662	.	.	ENSG00000091536	ENST00000205890	T	0.51325	0.71	5.1	5.1	0.69264	.	.	.	.	.	T	0.59756	0.2217	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61978	-0.6951	9	0.54805	T	0.06	.	18.1103	0.89533	0.0:0.0:1.0:0.0	.	482	Q9UKN7	MYO15_HUMAN	Q	482	ENSP00000205890:R482Q	ENSP00000205890:R482Q	R	+	2	0	MYO15A	17964284	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.973000	0.88032	2.374000	0.81015	0.561000	0.74099	CGA		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		30	190	0	0	0	1	0	30	190					A	18023559	G	A	18023559	3	1	84	1	0	0	0	0	1	0	0	0	10104	1058	37	1	1447	1	MYO15A	17	18023559	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	10446000	18023559	63171651	139	32687											
CDC6	990	broad.mit.edu	37	chr17	38451657	38451657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagttcaattctgtgcccGcaaagtctctgctgtttcag	9	11	4	0	rs4135016	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:38451657G>A	ENST00000209728.4	+	8	1604	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	378			R -> H (in dbSNP:rs4135016). {ECO:0000269|Ref.3}.		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						TTCTGTGCCCGCAAAGTCTCT	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17068	0.0		0.0	False		,,,				2504	0.0					ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(1132-1134)cGc>cAc		cell division cycle 6		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	202	186	191		1133	6	1	17	dbSNP_108	191	0,8600		0,0,4300	yes	missense	CDC6	NM_001254.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	378/561	38451657	2,13004	2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451657G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1133G>A	17.37:g.38451657G>A	ENSP00000209728:p.Arg378His						p.R378H	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			8	1604	+			378		R -> H (in dbSNP:rs4135016).			Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1133G>A	CCDS11365.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.111037	0.94339	4.54E-4	0.0	ENSG00000094804	ENST00000209728	T	0.57907	0.37	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	H	0.95504	3.68	0.58432	D	0.999991	D	0.89917	1.0	D	0.77004	0.989	D	0.86213	0.1626	10	0.72032	D	0.01	-35.3611	19.185	0.93639	0.0:0.0:1.0:0.0	rs4135016;rs4135016	378	Q99741	CDC6_HUMAN	H	378	ENSP00000209728:R378H	ENSP00000209728:R378H	R	+	2	0	CDC6	35705183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.582000	0.90791	2.835000	0.97688	0.591000	0.81541	CGC		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			6	692	0	0	0	1	0	6	692					A	38451657	G	A	38451657	3	1	84	1	0	0	0	0	1	0	0	0	3092	1087	38	1	1159	1	CDC6	17	38451657	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	20428098	38451657	42743553	140	32688											
ATP6V0A1	535	broad.mit.edu	37	chr17	40666417	40666417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgccaccctgaccGtggccatcctcctgatcatg	8	17	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:40666417G>A	ENST00000343619.4	+	21	2482	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	RP11-400F19.18_ENST00000591237.1_RNA|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	787					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)		CACCCTGACCGTGGCCATCCT	0.617																																						ENST00000343619.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(2359-2361)Gtg>Atg		ATPase, H+ transporting, lysosomal V0 subunit a1							198	168	178					17																	40666417		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40666417G>A	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.2359G>A	17.37:g.40666417G>A	ENSP00000342951:p.Val787Met					ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.V744M|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.V787M|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.V738M|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.V788M|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.V433M|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.V781M	p.V787M	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	21	2482	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	787					B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.2359G>A	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701079	0.88924	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	4.57	4.57	0.56435	.	0.062472	0.64402	D	0.000005	D	0.94594	0.8258	H	0.95294	3.65	0.80722	D	1	D;D;D;D;D	0.89917	0.983;0.997;0.99;0.983;1.0	D;D;D;P;D	0.69307	0.922;0.95;0.922;0.869;0.963	D	0.95204	0.8319	10	0.72032	D	0.01	-23.0287	11.0728	0.48014	0.085:0.0:0.915:0.0	.	738;744;788;787;781	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	M	787;787;781;788;738;433	ENSP00000342951:V787M;ENSP00000444676:V787M;ENSP00000377415:V781M;ENSP00000264649:V788M;ENSP00000443991:V738M;ENSP00000446377:V433M	ENSP00000264649:V788M	V	+	1	0	ATP6V0A1	37919943	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.859000	0.86982	2.390000	0.81377	0.561000	0.74099	GTG		0.617	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		5	611	0	0	0	1	0	5	611					A	40666417	G	A	40666417	3	1	84	1	0	0	0	0	1	0	0	0	1169	1145	40	1	2458	1	ATP6V0A1	17	40666417	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	2214760	40666417	40528793	141	32689											
C17orf71	55181	broad.mit.edu	37	chr17	57288528	57288528	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctttgctggtgcctgcaccCctttctgggcctaggcgata	11	13	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:57288528C>A	ENST00000543872.2	+	2	1380	c.1116C>A	c.(1114-1116)ccC>ccA	p.P372P	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.P372P|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Silent_p.P372P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	372					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						TGCCTGCACCCCTTTCTGGGC	0.542																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1114-1116)ccC>ccA		SMG8 nonsense mediated mRNA decay factor							89	77	81					17																	57288528		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288528C>A	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.1116C>A	17.37:g.57288528C>A						SMG8_ENST00000300917.5_Silent_p.P372P|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Silent_p.P372P	p.P372P			Q8ND04	SMG8_HUMAN			2	1380	+			372					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.1116C>A	CCDS11615.1																																																																																				0.542	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		5	278	1	0	0.000602214	1	0.000613631	5	278					A	57288528	C	A	57288528	2	1	84	1	0	0	0	0	0	0	0	1	1884	610	22	3		3	C17orf71	17	57288528	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	16622111	57288528	23906682	142	32690											
SCN4A	6329	broad.mit.edu	37	chr17	62018160	62018160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agactccttgacacctgggcGcacagtctgccctgggggag	14	13	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:62018160G>A	ENST00000435607.1	-	24	5558	c.5482C>T	c.(5482-5484)Cgc>Tgc	p.R1828C	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1828C	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1828					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)	ACACCTGGGCGCACAGTCTGC	0.677																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(5482-5484)Cgc>Tgc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						36	46	43					17																	62018160		2050	4192	6242	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018160G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5482C>T	17.37:g.62018160G>A	ENSP00000396320:p.Arg1828Cys					SCN4A_ENST00000435607.1_Missense_Mutation_p.R1828C	p.R1828C			P35499	SCN4A_HUMAN			24	5558	-			1828					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.5482C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433830	0.25813	.	.	ENSG00000007314	ENST00000435607	D	0.96619	-4.07	4.32	3.33	0.38152	.	1.836130	0.02649	N	0.106191	D	0.90721	0.7088	N	0.08118	0	0.39747	D	0.971837	B	0.12630	0.006	B	0.04013	0.001	T	0.81623	-0.0849	10	0.52906	T	0.07	.	4.8736	0.13646	0.1119:0.0:0.6728:0.2154	.	1828	P35499	SCN4A_HUMAN	C	1828	ENSP00000396320:R1828C	ENSP00000396320:R1828C	R	-	1	0	SCN4A	59371892	0.936000	0.31750	0.992000	0.48379	0.021000	0.10359	1.458000	0.35223	1.143000	0.42306	0.561000	0.74099	CGC		0.677	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		5	272	0	0	0	1	0	5	272					A	62018160	G	A	62018160	3	1	84	1	0	0	0	0	1	0	0	0	13970	1087	38	1	32	1	SCN4A	17	62018160	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	4729632	62018160	19177050	143	32691											
ABCA10	10349	broad.mit.edu	37	chr17	67211983	67211983	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	attccagcagtgaaggcaaaAgggctaagaagacttaatac	10	7	0	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr17:67211983A>G	ENST00000269081.4	-	9	1740	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_ENST00000416101.2_Silent_p.P277P|ABCA10_ENST00000432313.2_Silent_p.P277P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	277					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)					TGAAGGCAAAAGGGCTAAGAA	0.353																																						ENST00000269081.4																			0				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						c.(829-831)ccT>ccC		ATP-binding cassette, sub-family A (ABC1), member 10							53	54	54					17																	67211983		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67211983A>G	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.831T>C	17.37:g.67211983A>G						ABCA10_ENST00000432313.2_Silent_p.P277P|ABCA10_ENST00000416101.2_Silent_p.P277P	p.P277P	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			9	1740	-	Breast(10;6.95e-12)		277					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.831T>C	CCDS11684.1																																																																																				0.353	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	199	0	0	0	1	0	4	199					G	67211983	A	G	67211983	2	3	84	1	0	0	0	0	0	0	0	1	29	59	3	4		4	ABCA10	17	67211983	Silent	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	5193823	67211983	13983227	144	32692											
LAMA1	284217	broad.mit.edu	37	chr18	7038885	7038885	+	Frame_Shift_Del	DEL	T	T	-													actcggagcagccccgggggTttttttccttcaagttatag							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:7038885delT	ENST00000389658.3	-	11	1580	c.1487delA	c.(1486-1488)aacfs	p.N496fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4. {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)				GCCCCGGGGGTTTTTTTCCTT	0.532																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1486-1488)acfs		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						81	95	90					18																	7038885		2203	4300	6503	SO:0001589	frameshift_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7038885delT	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.1487delA	18.37:g.7038885delT	ENSP00000374309:p.Asn496fs						p.N496fs	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			11	1580	-		Colorectal(10;0.172)	496			Laminin EGF-like 4.			Frame_Shift_Del	DEL	ENST00000389658.3	37	c.1487delA	CCDS32787.1																																																																																				0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	737						7	737	---	---	---	---	-	7038885	T	-	7038885	7	5	84	1	0	1	0	1	0	0	0	0	8636	1725	60	0	7952	0	LAMA1	18	7038885	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08		7038885	71038363	145	32693											
SMAD4	4089	broad.mit.edu	37	chr18	48604761	48604764	+	Frame_Shift_Del	DEL	ACTT	ACTT	-													accttgctggattgaaattcActtacaccgggccctccagc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:48604761_48604764delACTT	ENST00000342988.3	+	12	2121_2124	c.1583_1586delACTT	c.(1582-1587)cacttafs	p.HL528fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.HL432fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	528	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)		ATTGAAATTCACTTACACCGGGCC	0.495																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	p.0?(36)|p.?(2)|p.L529fs*7(1)	pancreas(27)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(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						c.(1582-1587)cafs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604761_48604764delACTT	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.1583_1586delACTT	18.37:g.48604761_48604764delACTT	ENSP00000341551:p.His528fs					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.HL528fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.HL432fs	p.HL528fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2121_2124	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	528			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1583_1586delACTT	CCDS11950.1																																																																																				0.495	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		172	182						172	182	---	---	---	---	-	48604764	ACTT	-	48604761	7	5	84	1	0	1	0	1	0	0	0	0	14810	159	6	0	1625	0	SMAD4	18	48604761	Frame_Shift_Del	DEL	ACTT	TCGA-IB-A5SP-01A-11D-A32N-08	41565876	48604761	29472487	146	32694											
ONECUT2	9480	broad.mit.edu	37	chr18	55103544	55103544	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cggcagcttcaccctcatgcGcgacgagcgcgggctcccgg	14	17	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr18:55103544G>C	ENST00000491143.2	+	1	628	c.596G>C	c.(595-597)cGc>cCc	p.R199P	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	199					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)		ACCCTCATGCGCGACGAGCGC	0.677																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(595-597)cGc>cCc		one cut homeobox 2							28	33	31					18																	55103544		2150	4257	6407	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103544G>C	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.596G>C	18.37:g.55103544G>C	ENSP00000419185:p.Arg199Pro						p.R199P	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	628	+		Colorectal(73;0.234)	199						Missense_Mutation	SNP	ENST00000491143.2	37	c.596G>C	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796477	0.70567	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.78155	0.4239	M	0.76574	2.34	0.53688	D	0.999979	D	0.71674	0.998	D	0.79108	0.992	T	0.80984	-0.1138	9	0.56958	D	0.05	-18.0298	15.663	0.77203	0.0:0.0:1.0:0.0	.	199	O95948	ONEC2_HUMAN	P	180;199	.	ENSP00000262095:R199P	R	+	2	0	ONECUT2	53254542	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.544000	0.98092	1.990000	0.58119	0.455000	0.32223	CGC		0.677	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			44	43	0	0	0	1	0	44	43					C	55103544	G	C	55103544	3	2	84	1	0	0	0	0	1	0	0	0	10911	1087	38	5	598	5	ONECUT2	18	55103544	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	6498783	55103544	22973704	147	32695											
PTBP1	5725	broad.mit.edu	37	chr19	804908	804908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccctgctgcagtatgCggaccccgtgagcgcccagc	13	17	0	1	rs201221864		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:804908C>T	ENST00000349038.4	+	7	759	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGTATGCGGACCCCGTG	0.662																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(685-687)gCg>gTg		polypyrimidine tract binding protein 1		C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	82	77	79		686,686,686,	3.1	0	19		79	0,8600		0,0,4300	yes	missense,missense,missense,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	64,64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,	229/558,229/551,229/532,	804908	1,13005	2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804908C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.686C>T	19.37:g.804908C>T	ENSP00000014112:p.Ala229Val					PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron	p.A229V	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1109	+		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)	229			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.686C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465840	0.26335	2.27E-4	0.0	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.84;1.13	5.22	3.11	0.35812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.312976	0.33753	N	0.004595	T	0.43211	0.1237	M	0.70842	2.15	0.25834	N	0.984139	B;B;B	0.21905	0.062;0.01;0.012	B;B;B	0.17098	0.017;0.01;0.017	T	0.44636	-0.9315	10	0.62326	D	0.03	-38.0913	6.3887	0.21576	0.0:0.6883:0.1504:0.1613	.	229;229;229	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	229	ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V	ENSP00000014112:A229V	A	+	2	0	PTBP1	755908	0.998000	0.40836	0.003000	0.11579	0.273000	0.26683	3.875000	0.56108	0.601000	0.29879	-0.136000	0.14681	GCG		0.662	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			6	569	0	0	0	1	0	6	569					T	804908	C	T	804908	3	4	84	1	0	0	0	0	1	0	0	0	12772	768	27	1	712	1	PTBP1	19	804908	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		804908	58324075	148	32696											
MKNK2	2872	broad.mit.edu	37	chr19	2041073	2041073	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcaggacttgggcgGcactcagcctctgcttggcg	16	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:2041073G>A	ENST00000591601.1	-	11	1111	c.1076C>T	c.(1075-1077)gCc>gTc	p.A359V	MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V|MKNK2_ENST00000250896.3_Missense_Mutation_p.A359V|MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A359V(2)		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)		GACTTGGGCGGCACTCAGCCT	0.662																																						ENST00000250896.3																			2	Substitution - Missense(2)	p.A359V(2)	large_intestine(2)	breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(1075-1077)gCc>gTc		MAP kinase interacting serine/threonine kinase 2							125	100	109					19																	2041073		2203	4300	6503	SO:0001583	missense	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2041073G>A	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1076C>T	19.37:g.2041073G>A	ENSP00000467811:p.Ala359Val					MKNK2_ENST00000588014.1_Missense_Mutation_p.A103V|MKNK2_ENST00000541165.1_Missense_Mutation_p.A228V|MKNK2_ENST00000591588.1_Missense_Mutation_p.A103V|MKNK2_ENST00000591601.1_Missense_Mutation_p.A359V|MKNK2_ENST00000309340.7_Missense_Mutation_p.A359V|MKNK2_ENST00000591142.1_Missense_Mutation_p.A103V	p.A359V	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1320	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	359			Protein kinase.		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	ENST00000591601.1	37	c.1076C>T	CCDS12080.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140434	0.77775	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.46063	0.88;0.88;0.88	3.94	3.94	0.45596	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117336	0.56097	D	0.000022	T	0.52933	0.1765	L	0.38531	1.155	0.80722	D	1	D;D;P;P	0.71674	0.988;0.998;0.939;0.868	D;D;P;P	0.71414	0.951;0.973;0.779;0.859	T	0.55848	-0.8076	10	0.52906	T	0.07	-6.964	15.1499	0.72689	0.0:0.0:1.0:0.0	.	164;359;359;261	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	V	359;359;228;299	ENSP00000309485:A359V;ENSP00000250896:A359V;ENSP00000438904:A228V	ENSP00000250896:A359V	A	-	2	0	MKNK2	1992073	1.000000	0.71417	0.540000	0.28089	0.417000	0.31264	9.343000	0.97047	2.046000	0.60703	0.555000	0.69702	GCC		0.662	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		5	532	0	0	0	1	0	5	532					A	2041073	G	A	2041073	3	1	84	1	0	0	0	0	1	0	0	0	9646	1203	42	2	428	2	MKNK2	19	2041073	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1236165	2041073	57087910	149	32697											
FUT3	2525	broad.mit.edu	37	chr19	5844672	5844673	+	Frame_Shift_Ins	INS	-	-	G													caggatcaggagggtggggcINSgggtgggagtggtgtcctgt					rs370374203|rs148881389	byFrequency	TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:5844672_5844673insG	ENST00000303225.6	-	3	812_813	c.178_179insC	c.(178-180)cgcfs	p.R60fs	AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Frame_Shift_Ins_p.R60fs|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Frame_Shift_Ins_p.R60fs|FUT3_ENST00000458379.2_Frame_Shift_Ins_p.R60fs	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	60					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						GAGGGTGGGGCGGGTGGGAGTG	0.634																																					Esophageal Squamous(82;745 1728 24593 44831)	ENST00000303225.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(178-180)cccfs		fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)																																				SO:0001589	frameshift_variant	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844672_5844673insG		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.179dupC	19.37:g.5844675_5844675dupG	ENSP00000305603:p.Arg60fs					FUT3_ENST00000458379.2_Frame_Shift_Ins_p.P60fs|FUT3_ENST00000589918.1_Frame_Shift_Ins_p.P60fs|FUT3_ENST00000589620.1_Frame_Shift_Ins_p.P60fs	p.P60fs	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN			3	812_813	-			60					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Frame_Shift_Ins	INS	ENST00000303225.6	37	c.178_179insC	CCDS12153.1																																																																																				0.634	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		12	283						12	283	---	---	---	---	G	5844673	-	G	5844672	7	5	84	1	0	1	1	0	0	0	0	0	6132	768	27	0	910	0	FUT3	19	5844672	Frame_Shift_Ins	INS	-	TCGA-IB-A5SP-01A-11D-A32N-08	3803599	5844672	53284311	150	32698											
MUC16	94025	broad.mit.edu	37	chr19	9057140	9057140	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttcccacattggtcactgcCatgcttgaagaaggatgaat	10	9	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9057140C>A	ENST00000397910.4	-	3	30509	c.30306G>T	c.(30304-30306)atG>atT	p.M10102I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10104	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						TGGTCACTGCCATGCTTGAAG	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(30304-30306)atG>atT		mucin 16, cell surface associated							112	109	110					19																	9057140		1955	4160	6115	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057140C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30306G>T	19.37:g.9057140C>A	ENSP00000381008:p.Met10102Ile						p.M10102I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30509	-			10104			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30306G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.031	-0.199690	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.20200	2.09	2.6	-5.21	0.02815	.	.	.	.	.	T	0.07954	0.0199	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	8	0.87932	D	0	.	1.7767	0.03023	0.1437:0.3395:0.3098:0.2071	.	10102	B5ME49	.	I	10102	ENSP00000381008:M10102I	ENSP00000381008:M10102I	M	-	3	0	MUC16	8918140	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.069000	0.00619	-1.862000	0.01151	-1.436000	0.01078	ATG		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		127	268	1	0	4.8697e-55	1	5.20888e-55	127	268					A	9057140	C	A	9057140	3	1	84	1	0	0	0	0	1	0	0	0	10014	594	21	3	13545	3	MUC16	19	9057140	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	3212468	9057140	50071843	151	32699											
MUC16	94025	broad.mit.edu	37	chr19	9089947	9089947	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtgagtaggtgggttGtgccctggcttcccctggtg	16	10	1	1	rs576260781		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:9089947G>T	ENST00000397910.4	-	1	2071	c.1868C>A	c.(1867-1869)aCa>aAa	p.T623K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	623	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						TAGGTGGGTTGTGCCCTGGCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19156	0.0		0.001	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(1867-1869)aCa>aAa		mucin 16, cell surface associated							93	97	96					19																	9089947		2196	4294	6490	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089947G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1868C>A	19.37:g.9089947G>T	ENSP00000381008:p.Thr623Lys						p.T623K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2071	-			623			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.1868C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.239	-0.155665	0.06544	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.68	-0.919	0.10478	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.15870	0.014	T	0.46247	-0.9205	8	0.87932	D	0	.	2.1688	0.03844	0.2075:0.0:0.4212:0.3713	.	623	B5ME49	.	K	623	ENSP00000381008:T623K	ENSP00000381008:T623K	T	-	2	0	MUC16	8950947	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.135000	0.10420	-0.188000	0.10499	0.205000	0.17691	ACA		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		129	257	1	0	1.59589e-38	1	1.69859e-38	129	257					T	9089947	G	T	9089947	3	4	84	1	0	0	0	0	1	0	0	0	10014	1377	48	3	41991	3	MUC16	19	9089947	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	32807	9089947	50039036	152	32700											
ZNF441	126068	broad.mit.edu	37	chr19	11891903	11891903	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagccatataaatgtAaacaatgtggaaaagccttc	9	6	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:11891903A>G	ENST00000357901.4	+	4	1366	c.1264A>G	c.(1264-1266)Aaa>Gaa	p.K422E	ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	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)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATAAATGTAAACAATGTGG	0.368																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1264-1266)Aaa>Gaa		zinc finger protein 441							38	39	38					19																	11891903		2203	4300	6503	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11891903A>G	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1264A>G	19.37:g.11891903A>G	ENSP00000350576:p.Lys422Glu					ZNF441_ENST00000454339.2_Missense_Mutation_p.K355E	p.K422E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	1366	+			422						Missense_Mutation	SNP	ENST00000357901.4	37	c.1264A>G	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	15.89	2.966344	0.53507	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.08370	3.1;3.1	1.22	0.166	0.14999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	N	0.12611	0.24	0.09310	N	0.999999	B	0.28291	0.206	B	0.34418	0.182	T	0.44174	-0.9345	9	0.25751	T	0.34	.	0.0939	0.00042	0.3319:0.241:0.1882:0.239	.	422	Q8N8Z8	ZN441_HUMAN	E	378;422;355	ENSP00000350576:K422E;ENSP00000403738:K355E	ENSP00000350576:K422E	K	+	1	0	ZNF441	11752903	0.000000	0.05858	0.122000	0.21767	0.980000	0.70556	-4.770000	0.00188	-0.007000	0.14345	0.254000	0.18369	AAA		0.368	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		82	124	0	0	0	1	0	82	124					G	11891903	A	G	11891903	3	3	84	1	0	0	0	0	1	0	0	0	17967	363	13	4	1278	4	ZNF441	19	11891903	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	2801956	11891903	47237080	153	32701											
BRD4	23476	broad.mit.edu	37	chr19	15350213	15350213	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcccaacctttttgggcGcaactggagtcttcggctcc	9	15	1	0	rs368540009		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:15350213G>A	ENST00000263377.2	-	17	3787	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1189	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTTTTGGGCGCAACTGGAGT	0.627			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(3565-3567)gCg>gTg		bromodomain containing 4			VAL/ALA	0,4406		0,0,2203	74	76	75		3566	4.7	1	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRD4	NM_058243.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1189/1363	15350213	1,13005	2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15350213G>A	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.3566C>T	19.37:g.15350213G>A	ENSP00000263377:p.Ala1189Val						p.A1189V	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		17	3787	-			1189					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.3566C>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	g	11.37	1.617877	0.28801	0.0	1.16E-4	ENSG00000141867	ENST00000263377	T	0.17370	2.28	4.68	4.68	0.58851	.	0.000000	0.52532	D	0.000067	T	0.35307	0.0927	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.05241	-1.0897	10	0.48119	T	0.1	-6.9197	16.3985	0.83631	0.0:0.0:1.0:0.0	.	1189	O60885	BRD4_HUMAN	V	1189	ENSP00000263377:A1189V	ENSP00000263377:A1189V	A	-	2	0	BRD4	15211213	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	7.340000	0.79292	2.115000	0.64714	0.550000	0.68814	GCG		0.627	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		8	615	0	0	0	1	0	8	615					A	15350213	G	A	15350213	3	1	84	1	0	0	0	0	1	0	0	0	1508	1087	38	1	538	1	BRD4	19	15350213	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	3458310	15350213	43778770	154	32702											
CCDC123	84902	broad.mit.edu	37	chr19	33392297	33392297	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tccatctcagccctttctttCtcttcttccttctgtaattg	3	14	5	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:33392297C>G	ENST00000305768.5	-	15	1675	c.1587G>C	c.(1585-1587)gaG>gaC	p.E529D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	529					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCCTTTCTTTCTCTTCTTCCT	0.453																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1585-1587)gaG>gaC		centrosomal protein 89kDa							165	157	160					19																	33392297		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33392297C>G	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"coiled-coil domain containing 123"	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1587G>C	19.37:g.33392297C>G	ENSP00000306105:p.Glu529Asp						p.E529D	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			15	1675	-			529					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.1587G>C	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746788	0.30955	.	.	ENSG00000121289	ENST00000305768	D	0.88201	-2.35	5.15	1.77	0.24775	.	0.307216	0.40818	N	0.001010	D	0.87557	0.6207	M	0.65320	2	0.80722	D	1	P	0.46912	0.886	P	0.50659	0.647	T	0.83103	-0.0127	10	0.40728	T	0.16	-13.6893	4.3698	0.11242	0.1501:0.519:0.0:0.3309	.	529	Q96ST8	CEP89_HUMAN	D	529	ENSP00000306105:E529D	ENSP00000306105:E529D	E	-	3	2	CEP89	38084137	1.000000	0.71417	0.676000	0.29932	0.217000	0.24651	0.618000	0.24373	0.622000	0.30249	-0.142000	0.14014	GAG		0.453	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		5	653	0	0	0	1	0	5	653					G	33392297	C	G	33392297	3	3	84	1	0	0	0	0	1	0	0	0	2766	912	32	5	784	5	CCDC123	19	33392297	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	18042084	33392297	25736686	155	32703											
ZNF780A	284323	broad.mit.edu	37	chr19	40580666	40580666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaTtccttacattcaaagggttt	7	10	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000455521.1_Silent_p.E562E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130	132	131					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000340963.5_Silent_p.E561E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		7	724	0	0	0	1	0	7	724					C	40580666	T	C	40580666	2	2	84	1	0	0	0	0	0	0	0	1	18205	1490	52	4		4	ZNF780A	19	40580666	Silent	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	7188369	40580666	18548317	156	32704											
HIPK4	147746	broad.mit.edu	37	chr19	40886552	40886552	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccatcatgtcggagaccGcattggtgcaggtctcaccc	12	13	2	1	rs201121603		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40886552G>A	ENST00000291823.2	-	3	1630	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	449					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTCGGAGACCGCATTGGTGCA	0.632													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19090	0.0		0.0	False		,,,				2504	0.0					ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1345-1347)gCg>gTg		homeodomain interacting protein kinase 4							86	90	89					19																	40886552		2203	4300	6503	SO:0001583	missense	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886552G>A	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1346C>T	19.37:g.40886552G>A	ENSP00000291823:p.Ala449Val						p.A449V	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1630	-			449					A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	c.1346C>T	CCDS12555.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.004	-2.287071	0.00248	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.66099	-0.19	4.84	-4.35	0.03656	.	1.367440	0.05006	N	0.470122	T	0.31136	0.0787	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39683	-0.9602	10	0.02654	T	1	.	7.7812	0.29066	0.217:0.3469:0.4361:0.0	.	449	Q8NE63	HIPK4_HUMAN	V	449;414	ENSP00000291823:A449V	ENSP00000291823:A449V	A	-	2	0	HIPK4	45578392	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.930000	0.03972	-0.596000	0.05821	-0.598000	0.04106	GCG		0.632	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		6	839	0	0	0	1	0	6	839					A	40886552	G	A	40886552	3	1	84	1	0	0	0	0	1	0	0	0	7149	1087	38	1	512	1	HIPK4	19	40886552	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	305886	40886552	18242431	157	32705											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-													tcgactgccagaggttccttCtcctcctcctcctcccgttt							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					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)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	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.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		7	461						7	461	---	---	---	---	-	40929411	CTC	-	40929409	7	5	84	1	0	1	0	1	0	0	0	0	14170	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-IB-A5SP-01A-11D-A32N-08	42857	40929409	18199574	158	32706											
PSG5	5673	broad.mit.edu	37	chr19	43679528	43679528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtccaaaaatactctgccGgtgggttagattccgcgaag	11	9	1	1	rs374635478		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:43679528G>A	ENST00000366175.3	-	4	933	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L|PSG5_ENST00000404580.1_Missense_Mutation_p.P268L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	268	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P268L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATACTCTGCCGGTGGGTTAGA	0.463																																						ENST00000404580.1																			1	Substitution - Missense(1)	p.P268L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(802-804)cCg>cTg		pregnancy specific beta-1-glycoprotein 5		G	LEU/PRO,LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	158	172	168		803,803	1.2	0.1	19		168	0,8590		0,0,4295	no	missense,missense	PSG5	NM_002781.3,NM_001130014.1	98,98	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	268/336,268/336	43679528	1,12993	2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679528G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9522	protein-coding gene	gene with protein product	"pregnancy-specific beta-1 glycoprotein", "pregnancy-specific beta 1 glycoprotein"	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.803C>T	19.37:g.43679528G>A	ENSP00000382334:p.Pro268Leu					PSG5_ENST00000599812.1_Missense_Mutation_p.P361L|PSG5_ENST00000407356.1_Missense_Mutation_p.P268L|PSG5_ENST00000366175.3_Missense_Mutation_p.P268L|PSG5_ENST00000342951.6_Missense_Mutation_p.P268L|PSG5_ENST00000407568.1_Intron	p.P268L			Q15238	PSG5_HUMAN			4	891	-		Prostate(69;0.00899)	268			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.803C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	8.795	0.931418	0.18131	2.27E-4	0.0	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	1.25	1.25	0.21368	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.20210	0.0486	M	0.69823	2.125	0.24795	N	0.992738	B;B	0.27971	0.196;0.006	B;B	0.40285	0.325;0.018	T	0.32561	-0.9902	9	0.40728	T	0.16	.	5.8107	0.18465	0.0:0.0:1.0:0.0	.	361;268	Q15228;Q15238	.;PSG5_HUMAN	L	268	ENSP00000382334:P268L;ENSP00000386008:P268L;ENSP00000344413:P268L;ENSP00000385250:P268L	ENSP00000344413:P268L	P	-	2	0	PSG5	48371368	0.845000	0.29573	0.103000	0.21229	0.039000	0.13416	2.369000	0.44231	0.644000	0.30656	0.184000	0.17185	CCG		0.463	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		8	1245	0	0	0	1	0	8	1245					A	43679528	G	A	43679528	3	1	84	1	0	0	0	0	1	0	0	0	12705	1116	39	1	212	1	PSG5	19	43679528	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	2750119	43679528	15449455	159	32707											
PLAUR	5329	broad.mit.edu	37	chr19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-													tacctgggacgcaggtgtggAgcagcagcagcagcggcagc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.66	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		7	560						7	560	---	---	---	---	-	44174237	AGC	-	44174235	7	5	84	1	0	1	0	1	0	0	0	0	12065	304	11	0	1093	0	PLAUR	19	44174235	In_Frame_Del	DEL	AGC	TCGA-IB-A5SP-01A-11D-A32N-08	494707	44174235	14954748	160	32708											
SHANK1	50944	broad.mit.edu	37	chr19	51219616	51219616	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaagttggcatcgcggccGgaggtggccggttggaacag	19	8	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr19:51219616G>A	ENST00000293441.1	-	2	393	c.375C>T	c.(373-375)tcC>tcT	p.S125S	SHANK1_ENST00000359082.3_Silent_p.S125S|SHANK1_ENST00000391814.1_Silent_p.S125S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	125					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)		CATCGCGGCCGGAGGTGGCCG	0.637																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(373-375)tcC>tcT		SH3 and multiple ankyrin repeat domains 1							49	52	51					19																	51219616		2203	4300	6503	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219616G>A	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.375C>T	19.37:g.51219616G>A						SHANK1_ENST00000359082.3_Silent_p.S125S|SHANK1_ENST00000391814.1_Silent_p.S125S	p.S125S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	393	-		all_neural(266;0.057)	125					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.375C>T	CCDS12799.1																																																																																				0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	475	0	0	0	1	0	5	475					A	51219616	G	A	51219616	2	1	84	1	0	0	0	0	0	0	0	1	14314	1103	39	1		1	SHANK1	19	51219616	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	7045381	51219616	7909367	161	32709											
NINL	22981	broad.mit.edu	37	chr20	25462667	25462667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctccatgaggggctgtgccGgttcttgggcagccgcgccc	16	14	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:25462667G>A	ENST00000278886.6	-	14	1820	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	NINL_ENST00000422516.1_Missense_Mutation_p.R583W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	583					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						GGGCTGTGCCGGTTCTTGGGC	0.692																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1747-1749)Cgg>Tgg		ninein-like							42	48	46					20																	25462667		2202	4300	6502	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25462667G>A		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.1747C>T	20.37:g.25462667G>A	ENSP00000278886:p.Arg583Trp					NINL_ENST00000422516.1_Missense_Mutation_p.R583W	p.R583W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			14	1820	-			583					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1747C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083873	0.36758	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34859	1.58;1.34	4.73	-5.11	0.02901	.	2.414770	0.01809	N	0.033350	T	0.27765	0.0683	L	0.46741	1.465	0.09310	N	1	B;B	0.26147	0.143;0.001	B;B	0.15484	0.013;0.0	T	0.25433	-1.0132	10	0.51188	T	0.08	-6.8188	5.0826	0.14664	0.3951:0.0:0.3319:0.273	.	583;583	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	W	583	ENSP00000278886:R583W;ENSP00000410431:R583W	ENSP00000278886:R583W	R	-	1	2	NINL	25410667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.540000	0.06106	-0.682000	0.05197	0.555000	0.69702	CGG		0.692	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		6	575	0	0	0	1	0	6	575					A	25462667	G	A	25462667	3	1	84	1	0	0	0	0	1	0	0	0	10462	1115	39	1	2445	1	NINL	20	25462667	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08		25462667	37562853	162	32710											
C20orf185	359710	broad.mit.edu	37	chr20	31644477	31644477	+	Frame_Shift_Del	DEL	T	T	-													cttgctgggccacggaggggTttttggcgttgtcgaggagc							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:31644477delT	ENST00000375494.3	+	2	254	c.254delT	c.(253-255)gttfs	p.V85fs	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	85	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CACGGAGGGGTTTTTGGCGTT	0.587																																						ENST00000375494.3																			0											c.(253-255)gtfs		BPI fold containing family B, member 3							94	89	91					20																	31644477		2203	4300	6503	SO:0001589	frameshift_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31644477delT	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.254delT	20.37:g.31644477delT	ENSP00000364643:p.Val85fs						p.V85fs	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			2	254	+			85			Leu-rich.		Q5TDX7	Frame_Shift_Del	DEL	ENST00000375494.3	37	c.254delT	CCDS13212.1																																																																																				0.587	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		10	497						10	497	---	---	---	---	-	31644477	T	-	31644477	7	5	84	1	0	1	0	1	0	0	0	0	2104	1725	60	0	260	0	C20orf185	20	31644477	Frame_Shift_Del	DEL	T	TCGA-IB-A5SP-01A-11D-A32N-08	6181810	31644477	31381043	163	32711											
TOX2	84969	broad.mit.edu	37	chr20	42694515	42694515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccctgccagcctcgcccGgacgctgggctccaagtctc	10	20	1	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:42694515G>A	ENST00000358131.5	+	6	1278	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Missense_Mutation_p.R333Q|TOX2_ENST00000341197.4_Missense_Mutation_p.R375Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	357					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCTCGCCCGGACGCTGGGC	0.706																																						ENST00000358131.5																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26						c.(1069-1071)cGg>cAg		TOX high mobility group box family member 2							41	46	44					20																	42694515		2203	4298	6501	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694515G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1070G>A	20.37:g.42694515G>A	ENSP00000350849:p.Arg357Gln					TOX2_ENST00000435864.2_Missense_Mutation_p.R253Q|TOX2_ENST00000423191.1_Missense_Mutation_p.R333Q|TOX2_ENST00000372999.1_Missense_Mutation_p.R333Q|TOX2_ENST00000341197.3_Missense_Mutation_p.R375Q	p.R357Q	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1278	+		Myeloproliferative disorder(115;0.00452)	357					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1070G>A	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536841	0.45176	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.14766	2.72;2.73;2.73;2.57;2.48	5.11	4.16	0.48862	.	0.000000	0.39687	N	0.001299	T	0.22003	0.0530	L	0.37850	1.14	0.45946	D	0.998777	D;D;D;D	0.76494	0.997;0.999;0.999;0.999	D;D;D;D	0.77557	0.968;0.99;0.978;0.978	T	0.03576	-1.1023	10	0.07325	T	0.83	.	12.5979	0.56481	0.0818:0.0:0.9182:0.0	.	253;375;357;333	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	Q	375;333;333;357;253	ENSP00000344724:R375Q;ENSP00000390278:R333Q;ENSP00000362090:R333Q;ENSP00000350849:R357Q;ENSP00000396777:R253Q	ENSP00000344724:R375Q	R	+	2	0	TOX2	42127929	1.000000	0.71417	0.998000	0.56505	0.161000	0.22273	5.322000	0.65852	1.282000	0.44496	-0.136000	0.14681	CGG		0.706	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			189	344	0	0	0	1	0	189	344					A	42694515	G	A	42694515	3	1	84	1	0	0	0	0	1	0	0	0	16431	1116	39	1	1280	1	TOX2	20	42694515	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	11050038	42694515	20331005	164	32712											
STAU1	6780	broad.mit.edu	37	chr20	47741012	47741012	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaagaacagctatggcgGcatttttctttgaaatcttc	7	10	3	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:47741012G>A	ENST00000371856.2	-	7	1132	c.722C>T	c.(721-723)gCc>gTc	p.A241V	STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000371828.3_Missense_Mutation_p.A166V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	241	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGCTATGGCGGCATTTTTCTT	0.468																																						ENST00000371828.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(496-498)gCc>gTc		staufen double-stranded RNA binding protein 1							157	174	168					20																	47741012		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47741012G>A		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.722C>T	20.37:g.47741012G>A	ENSP00000360922:p.Ala241Val					STAU1_ENST00000371856.2_Missense_Mutation_p.A241V|STAU1_ENST00000360426.4_Missense_Mutation_p.A160V|STAU1_ENST00000371792.1_Missense_Mutation_p.A160V|STAU1_ENST00000340954.7_Missense_Mutation_p.A160V|STAU1_ENST00000371802.1_Missense_Mutation_p.A166V|STAU1_ENST00000347458.5_Missense_Mutation_p.A160V	p.A166V	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		7	984	-			241					A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.497C>T	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303436	0.95601	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99357	1.0916	10	0.87932	D	0	-10.9603	19.0449	0.93015	0.0:0.0:1.0:0.0	.	241;166	O95793;Q5JW29	STAU1_HUMAN;.	V	166;160;241;160;160;160;166;160;166	ENSP00000360893:A166V;ENSP00000345425:A160V;ENSP00000360922:A241V;ENSP00000353604:A160V;ENSP00000323443:A160V;ENSP00000360867:A166V;ENSP00000360857:A160V;ENSP00000416779:A166V	ENSP00000345425:A160V	A	-	2	0	STAU1	47174419	1.000000	0.71417	0.616000	0.29078	0.694000	0.40290	9.864000	0.99589	2.492000	0.84095	0.650000	0.86243	GCC		0.468	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453		7	842	0	0	0	1	0	7	842					A	47741012	G	A	47741012	3	1	84	1	0	0	0	0	1	0	0	0	15324	1203	42	2	1043	2	STAU1	20	47741012	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	5046497	47741012	15284508	165	32713											
TSHZ2	128553	broad.mit.edu	37	chr20	51871857	51871857	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggaaagaaagtccccaCgaagaggcctcatctttcag	11	10	3	2	rs143642849		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:51871857C>T	ENST00000371497.5	+	2	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.H617H|TSHZ2_ENST00000329613.6_Silent_p.H617H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					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)			AAAGTCCCCACGAAGAGGCCT	0.517																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1858-1860)caC>caT		teashirt zinc finger homeobox 2							78	81	80					20																	51871857		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871857C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1860C>T	20.37:g.51871857C>T						TSHZ2_ENST00000603338.2_Silent_p.H617H|TSHZ2_ENST00000329613.6_Silent_p.H617H	p.H620H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2747	+			620					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1860C>T	CCDS33490.1																																																																																				0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		189	374	0	0	0	1	0	189	374					T	51871857	C	T	51871857	2	4	84	1	0	0	0	0	0	0	0	1	16677	535	19	1		1	TSHZ2	20	51871857	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	4130845	51871857	11153663	166	32714											
TAF4	6874	broad.mit.edu	37	chr20	60551330	60551330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcgtgattctttgtcgcGtgaactgtctgggggttccg	14	11	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:60551330G>A	ENST00000252996.4	-	15	3151	c.3152C>T	c.(3151-3153)aCg>aTg	p.T1051M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1051					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)			TCTTTGTCGCGTGAACTGTCT	0.537																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(3151-3153)aCg>aTg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							103	111	108					20																	60551330		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60551330G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.3152C>T	20.37:g.60551330G>A	ENSP00000252996:p.Thr1051Met						p.T1051M	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		15	3151	-	Breast(26;1e-08)		1051					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.3152C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689456	0.29962	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.24723	1.84;1.84	5.35	5.35	0.76521	Transcription initiation factor TFIID component TAF4 (1);	0.150930	0.64402	D	0.000020	T	0.26268	0.0641	L	0.38175	1.15	0.54753	D	0.999984	D	0.53745	0.962	B	0.43360	0.417	T	0.01390	-1.1367	10	0.36615	T	0.2	-7.1837	19.0436	0.93011	0.0:0.0:1.0:0.0	.	1051	O00268	TAF4_HUMAN	M	1051;915	ENSP00000252996:T1051M;ENSP00000399091:T915M	ENSP00000252996:T1051M	T	-	2	0	TAF4	59984725	1.000000	0.71417	0.970000	0.41538	0.116000	0.19942	5.155000	0.64900	2.496000	0.84212	0.655000	0.94253	ACG		0.537	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		6	985	0	0	0	1	0	6	985					A	60551330	G	A	60551330	3	1	84	1	0	0	0	0	1	0	0	0	15578	1145	40	1	109	1	TAF4	20	60551330	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	8679473	60551330	2474190	167	32715											
COL20A1	57642	broad.mit.edu	37	chr20	61929336	61929336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagagagtcggaggggagcGgcctcggctacctggtgcag	20	9	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:61929336G>A	ENST00000358894.6	+	3	257	c.157G>A	c.(157-159)Ggc>Agc	p.G53S	COL20A1_ENST00000422202.1_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S|COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	53	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGAGGGGAGCGGCCTCGGCTA	0.632																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(157-159)Ggc>Agc		collagen, type XX, alpha 1							41	52	48					20																	61929336		2031	4164	6195	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61929336G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.157G>A	20.37:g.61929336G>A	ENSP00000351767:p.Gly53Ser					COL20A1_ENST00000435874.1_Missense_Mutation_p.G53S|COL20A1_ENST00000358894.6_Missense_Mutation_p.G53S|COL20A1_ENST00000326996.6_Missense_Mutation_p.G53S	p.G53S			Q9P218	COKA1_HUMAN			2	225	+	all_cancers(38;1.39e-10)		53			Fibronectin type-III 1.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.157G>A	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	G	2.312	-0.357702	0.05138	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	3.95	-1.67	0.08238	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.543240	0.18383	N	0.142918	T	0.27933	0.0688	N	0.14661	0.345	0.09310	N	1	B	0.21309	0.054	B	0.15484	0.013	T	0.17137	-1.0379	10	0.21014	T	0.42	.	8.946	0.35758	0.8054:0.0:0.1946:0.0	.	53	Q9P218	COKA1_HUMAN	S	53	ENSP00000351767:G53S;ENSP00000323077:G53S;ENSP00000408690:G53S;ENSP00000414753:G53S	ENSP00000323077:G53S	G	+	1	0	COL20A1	61399781	0.000000	0.05858	0.057000	0.19452	0.005000	0.04900	0.036000	0.13819	-0.160000	0.11002	-0.229000	0.12294	GGC		0.632	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		7	294	0	0	0	1	0	7	294					A	61929336	G	A	61929336	3	1	84	1	0	0	0	0	1	0	0	0	3688	1116	39	1	163	1	COL20A1	20	61929336	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1378006	61929336	1096184	168	32716											
ZGPAT	84619	broad.mit.edu	37	chr20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgtggtggagggggAcggcatcctgcccccactgc	18	13	0	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr20:62365008A>G	ENST00000328969.5	+	4	915	c.788A>G	c.(787-789)gAc>gGc	p.D263G	ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T169A|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	263					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGGAGGGGGACGGCATCCTG	0.617																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(787-789)gAc>gGc		zinc finger, CCCH-type with G patch domain							135	130	132					20																	62365008		2203	4300	6503	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62365008A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.788A>G	20.37:g.62365008A>G	ENSP00000332013:p.Asp263Gly					ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G	p.D263G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			4	915	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		263					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.788A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC		0.617	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		6	986	0	0	0	1	0	6	986					G	62365008	A	G	62365008	3	3	84	1	0	0	0	0	1	0	0	0	17727	275	10	4	798	4	ZGPAT	20	62365008	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	435672	62365008	660512	169	32717											
TPTE	7179	broad.mit.edu	37	chr21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcactgataggtgacaccCgggctgctcctttaaattca	8	11	2	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:10969096C>T	ENST00000361285.4	-	7	481	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	51					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)		AGGTGACACCCGGGCTGCTCC	0.453																																						ENST00000361285.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(151-153)cGg>cAg		transmembrane phosphatase with tensin homology							234	220	225					21																	10969096		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969096C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.152G>A	21.37:g.10969096C>T	ENSP00000355208:p.Arg51Gln					TPTE_ENST00000342420.5_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000415664.2_Intron	p.R51Q	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	481	-			51					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.152G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	A	4.078	0.012302	0.07912	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	D	0.94687	-3.49	0.558	-1.12	0.09808	.	0.602094	0.13783	U	0.363084	T	0.81880	0.4916	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63484	-0.6627	9	0.21540	T	0.41	5.8346	.	.	.	.	51	P56180	TPTE_HUMAN	Q	51;33	ENSP00000355208:R51Q	ENSP00000399471:R33Q	R	-	2	0	TPTE	9990967	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.181000	0.01257	-2.672000	0.00413	-2.396000	0.00226	CGG		0.453	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			195	667	0	0	0	1	0	195	667					T	10969096	C	T	10969096	3	4	84	1	0	0	0	0	1	0	0	0	16483	652	23	1	1575	1	TPTE	21	10969096	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		10969096	37160799	170	32718											
GRIK1	2897	broad.mit.edu	37	chr21	30909555	30909555	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	caggcgtttccttggatcacGccacagtctcttttctctga	8	13	3	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:30909555G>T	ENST00000389125.3	-	16	2838	c.2714C>A	c.(2713-2715)gCg>gAg	p.A905E	GRIK1_ENST00000399914.1_Missense_Mutation_p.A934E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E|GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					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)	CTTGGATCACGCCACAGTCTC	0.393																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(2800-2802)gCg>gAg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						91	85	87					21																	30909555		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30909555G>T		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	ENST00000389125.3:c.2714C>A	21.37:g.30909555G>T	ENSP00000373777:p.Ala905Glu					GRIK1_ENST00000389125.3_Missense_Mutation_p.A905E|GRIK1_ENST00000399913.1_Missense_Mutation_p.A920E|GRIK1_ENST00000535441.1_Missense_Mutation_p.A922E|GRIK1_ENST00000327783.4_Missense_Mutation_p.A949E	p.A934E			P39086	GRIK1_HUMAN			17	3322	-			0					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000389125.3	37	c.2801C>A	CCDS33530.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621724	0.46736	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441	T;T;T;T;T	0.16196	2.36;2.58;2.55;2.39;2.55	4.55	3.66	0.41972	.	1.019010	0.07840	N	0.962905	T	0.33818	0.0876	L	0.48642	1.525	0.80722	D	1	P;D;D	0.69078	0.649;0.996;0.997	B;P;P	0.58210	0.049;0.755;0.835	T	0.08617	-1.0713	10	0.87932	D	0	.	15.2569	0.73593	0.0:0.1417:0.8583:0.0	.	934;920;905	E7EPY9;E9PD61;P39086-2	.;.;.	E	949;905;920;934;922	ENSP00000327687:A949E;ENSP00000373777:A905E;ENSP00000382797:A920E;ENSP00000382798:A934E;ENSP00000446326:A922E	ENSP00000327687:A949E	A	-	2	0	GRIK1	29831426	1.000000	0.71417	0.868000	0.34077	0.930000	0.56654	4.884000	0.63135	1.494000	0.48533	0.484000	0.47621	GCG		0.393	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171978.1			4	149	1	0	1	1	1	4	149					T	30909555	G	T	30909555	3	4	84	1	0	0	0	0	1	0	0	0	6803	1087	38	3	7	3	GRIK1	21	30909555	Missense_Mutation	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	19940459	30909555	17220340	171	32719											
DYRK1A	1859	broad.mit.edu	37	chr21	38877757	38877757	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaactcgaattcaacctTattatgctctgcagcacagt	5	12	2	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:38877757T>A	ENST00000398960.2	+	9	1486	c.1411T>A	c.(1411-1413)Tat>Aat	p.Y471N	DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000339659.4_Missense_Mutation_p.Y462N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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						AATTCAACCTTATTATGCTCT	0.438																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			0				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						c.(1384-1386)Tat>Aat		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							111	111	111					21																	38877757		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38877757T>A	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.1411T>A	21.37:g.38877757T>A	ENSP00000381932:p.Tyr471Asn					DYRK1A_ENST00000338785.3_Missense_Mutation_p.Y471N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Y243N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Y471N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Y471N|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Y471N	p.Y462N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			9	2854	+			471			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1384T>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024460	0.54683	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120768	0.64402	D	0.000014	T	0.42899	0.1223	N	0.02685	-0.53	0.80722	D	1	B;B;B;B;B	0.26845	0.005;0.005;0.161;0.133;0.005	B;B;B;B;B	0.30179	0.035;0.035;0.112;0.068;0.035	T	0.49163	-0.8968	10	0.66056	D	0.02	.	16.1946	0.82018	0.0:0.0:0.0:1.0	.	471;471;471;462;471	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	471;462;471;471;471;471;243	ENSP00000342690:Y471N;ENSP00000340373:Y462N;ENSP00000319032:Y471N;ENSP00000416089:Y471N;ENSP00000381932:Y471N;ENSP00000381929:Y471N;ENSP00000407854:Y243N	ENSP00000319032:Y471N	Y	+	1	0	DYRK1A	37799627	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.977000	0.88081	2.228000	0.72767	0.528000	0.53228	TAT		0.438	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		5	417	0	0	0	1	0	5	417					A	38877757	T	A	38877757	3	1	84	1	0	0	0	0	1	0	0	0	4870	1754	61	5	1445	5	DYRK1A	21	38877757	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	7968202	38877757	9252138	172	32720											
SLC19A1	6573	broad.mit.edu	37	chr21	46951654	46951654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgcttcaggaagagggCgaggaccacgctgaaggtga	19	8	1	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr21:46951654C>T	ENST00000311124.4	-	3	750	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	200					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)	AGGAAGAGGGCGAGGACCACG	0.647																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(598-600)Gcc>Acc		solute carrier family 19 (folate transporter), member 1							57	48	51					21																	46951654		2200	4299	6499	SO:0001583	missense	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951654C>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.598G>A	21.37:g.46951654C>T	ENSP00000308895:p.Ala200Thr					SLC19A1_ENST00000567670.1_Missense_Mutation_p.A200T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A160T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A200T	p.A200T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	750	-			200					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	ENST00000311124.4	37	c.598G>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510194	0.44660	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649	T;T;T	0.81330	-1.48;-1.48;-1.48	4.62	-5.28	0.02755	Major facilitator superfamily domain, general substrate transporter (1);	0.404697	0.27544	N	0.018889	T	0.60830	0.2299	L	0.35288	1.05	0.25111	N	0.990718	P;P;B;P	0.35481	0.504;0.504;0.262;0.504	B;B;B;B	0.33960	0.173;0.058;0.019;0.032	T	0.55029	-0.8204	10	0.33940	T	0.23	-15.7351	5.7407	0.18092	0.2584:0.1321:0.0:0.6095	.	160;222;200;200	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	T	200;200;160	ENSP00000308895:A200T;ENSP00000369347:A200T;ENSP00000441772:A160T	ENSP00000308895:A200T	A	-	1	0	SLC19A1	45776082	0.012000	0.17670	0.172000	0.22920	0.879000	0.50718	-0.237000	0.08990	-0.965000	0.03591	0.306000	0.20318	GCC		0.647	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			53	44	0	0	0	1	0	53	44					T	46951654	C	T	46951654	3	4	84	1	0	0	0	0	1	0	0	0	14478	768	27	1	1193	1	SLC19A1	21	46951654	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	8073897	46951654	1178241	173	32721											
HIRA	7290	broad.mit.edu	37	chr22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgctgttaaagaatgCcgtggagaagtccctgtcat	14	7	1	2			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000546308.1_Missense_Mutation_p.A433T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	477	Interaction with ASF1A.|Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1429-1431)Gca>Aca		histone cell cycle regulator							80	92	88					22																	19365576		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365576C>T	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.1429G>A	22.37:g.19365576C>T	ENSP00000263208:p.Ala477Thr					HIRA_ENST00000546308.1_Missense_Mutation_p.A433T|HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T	p.A477T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			14	1685	-	Colorectal(54;0.0993)		477			Interaction with ASF1A.|Interaction with CCNA1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1429G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030001	0.93575	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.72282	-0.4;-0.64;-0.48;-0.46	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.29908	0.895	0.80722	D	1	D;D;P	0.67145	0.974;0.996;0.956	P;D;P	0.79784	0.647;0.993;0.549	T	0.69228	-0.5200	10	0.16896	T	0.51	-16.2298	19.1181	0.93350	0.0:1.0:0.0:0.0	.	433;477;477	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	T	477;477;433;433	ENSP00000345350:A477T;ENSP00000263208:A477T;ENSP00000446073:A433T;ENSP00000441870:A433T	ENSP00000263208:A477T	A	-	1	0	HIRA	17745576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.297000	0.72757	2.756000	0.94617	0.655000	0.94253	GCA		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		5	327	0	0	0	1	0	5	327					T	19365576	C	T	19365576	3	4	84	1	0	0	0	0	1	0	0	0	7150	739	26	2	1672	2	HIRA	22	19365576	Missense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		19365576	31938990	174	32722											
MED15	51586	broad.mit.edu	37	chr22	20929453	20929453	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacataagagcccggttcccGcctaccaccgctgtgtccgc	9	18	0	1	rs201830458		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:20929453G>A	ENST00000263205.7	+	9	1275	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	MED15_ENST00000425759.2_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	402	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)			CCCGGTTCCCGCCTACCACCG	0.597																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1204-1206)ccG>ccA		mediator complex subunit 15							115	100	105					22																	20929453		2203	4300	6503	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20929453G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1206G>A	22.37:g.20929453G>A						MED15_ENST00000406969.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron	p.P402P	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		9	1275	+	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)	402			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.1206G>A	CCDS33602.1																																																																																				0.597	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		6	373	0	0	0	1	0	6	373					A	20929453	G	A	20929453	2	1	84	1	0	0	0	0	0	0	0	1	9474	1074	38	1		1	MED15	22	20929453	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	1563877	20929453	30375113	175	32723											
RFPL1	5988	broad.mit.edu	37	chr22	29837976	29837976	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtctatacattcaggagtgtCtctgctgaggagccactgca	11	10	3	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																						ENST00000354373.2																			2	Substitution - coding silent(2)	p.V273V(2)	lung(1)|endometrium(1)	endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(817-819)gtC>gtA		ret finger protein-like 1							116	96	103					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29837976C>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A						RFPL1S_ENST00000461286.2_RNA	p.V273V	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			2	1028	+			273			B30.2/SPRY.		Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.819C>A	CCDS13857.2																																																																																				0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		5	252	1	0	1.5842e-08	1	1.64543e-08	5	252					A	29837976	C	A	29837976	2	1	84	1	0	0	0	0	0	0	0	1	13303	900	32	3		3	RFPL1	22	29837976	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	8908523	29837976	21466590	176	32724											
WWC3	55841	broad.mit.edu	37	chrX	10090747	10090747	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggattattcgctagccagCgacagtggggtgtttgaacc	13	9	0	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:10090747C>T	ENST00000380861.4	+	12	2110	c.1719C>T	c.(1717-1719)agC>agT	p.S573S	WWC3_ENST00000454666.1_Silent_p.S573S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	573					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						CGCTAGCCAGCGACAGTGGGG	0.498																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1717-1719)agC>agT		WWC family member 3							256	235	242					X																	10090747		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10090747C>T	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.1719C>T	X.37:g.10090747C>T						WWC3_ENST00000454666.1_Silent_p.S573S	p.S573S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			12	2110	+			573					A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.1719C>T	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	3.220	-0.159648	0.06544	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-3.99	0.04069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7804	15.226	0.73352	0.0:0.1046:0.0:0.8954	.	.	.	.	X	578	.	.	R	+	1	2	WWC3	10050747	0.915000	0.31059	0.002000	0.10522	0.277000	0.26821	-0.063000	0.11655	-0.854000	0.04131	-0.198000	0.12761	CGA		0.498	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		7	881	0	0	0	1	0	7	881					T	10090747	C	T	10090747	2	4	84	1	0	0	0	0	0	0	0	1	17467	767	27	1		1	WWC3	23	10090747	Silent	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08		10090747	145179813	177	32725											
PTCHD1	139411	broad.mit.edu	37	chrX	23410819	23410819	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggccagccctttcacgaAcattgaggcagccaggattt	12	11	1	1			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:23410819A>G	ENST00000379361.4	+	3	2044	c.1184A>G	c.(1183-1185)aAc>aGc	p.N395S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	395	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCTTTCACGAACATTGAGGCA	0.483																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(1183-1185)aAc>aGc		patched domain containing 1							127	108	114					X																	23410819		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23410819A>G	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.1184A>G	X.37:g.23410819A>G	ENSP00000368666:p.Asn395Ser						p.N395S	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	2044	+			395			SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1184A>G	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340499	0.24339	.	.	ENSG00000165186	ENST00000379361	D	0.85088	-1.94	5.32	5.32	0.75619	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	T	0.77605	0.4155	L	0.31752	0.955	0.50632	D	0.999886	B	0.11235	0.004	B	0.31290	0.127	T	0.68981	-0.5266	10	0.05436	T	0.98	.	14.5355	0.67958	1.0:0.0:0.0:0.0	.	395	Q96NR3	PTHD1_HUMAN	S	395	ENSP00000368666:N395S	ENSP00000368666:N395S	N	+	2	0	PTCHD1	23320740	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.910000	0.92685	1.881000	0.54492	0.486000	0.48141	AAC		0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		5	262	0	0	0	1	0	5	262					G	23410819	A	G	23410819	3	3	84	1	0	0	0	0	1	0	0	0	12779	43	2	4	1194	4	PTCHD1	23	23410819	Missense_Mutation	SNP	A	TCGA-IB-A5SP-01A-11D-A32N-08	13320072	23410819	131859741	178	32726											
FAM47A	158724	broad.mit.edu	37	chrX	34150174	34150174	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attttggggagtaaaaactcGtcacggcgacaaacgagagt	12	7	1	1	rs373597275		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		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						GTAAAAACTCGTCACGGCGAC	0.532																																						ENST00000346193.3																			2	Substitution - coding silent(2)	p.D74D(2)	lung(1)|kidney(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(220-222)gaC>gaT		family with sequence similarity 47, member A							91	86	88					X																	34150174		2202	4300	6502	SO:0001819	synonymous_variant	158724							g.chrX:34150174G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.222C>T	X.37:g.34150174G>A							p.D74D	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	273	-			74					A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	c.222C>T	CCDS43926.1																																																																																				0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		245	106	0	0	0	1	0	245	106					A	34150174	G	A	34150174	2	1	84	1	0	0	0	0	0	0	0	1	5594	1136	40	1		1	FAM47A	23	34150174	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	10739355	34150174	121120386	179	32727											
KDM6A	7403	broad.mit.edu	37	chrX	44894229	44894232	+	Splice_Site	DEL	AAGT	AAGT	-													tgcactttgtccaatgctgaAagtaagtattattaagtact							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:44894229_44894232delAAGT	ENST00000377967.4	+	7	659_660	c.618_619delAAGT	c.(616-621)gaaagt>gagt	p.S207fs	KDM6A_ENST00000536777.1_Splice_Site_p.S207fs|KDM6A_ENST00000382899.4_Splice_Site_p.S207fs|KDM6A_ENST00000543216.1_Splice_Site_p.S207fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	207	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(12)|p.0?(6)|p.?(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						CCAATGCTGAAAGTAAGTATTATT	0.333			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		20	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(2)	p.0(12)|p.0?(6)|p.?(2)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)|soft_tissue(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e7+1		lysine (K)-specific demethylase 6A																																				SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44894229_44894232delAAGT	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.619+1AAGT>-	X.37:g.44894233_44894236delAAGT						KDM6A_ENST00000382899.4_Splice_Site_p.E206_splice|KDM6A_ENST00000543216.1_Splice_Site_p.E206_splice|KDM6A_ENST00000536777.1_Splice_Site_p.E206_splice	p.E206_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			7	659_660	+			206					Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.619_splice	CCDS14265.1																																																																																				0.333	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Frame_Shift_Del	121	65						121	65	---	---	---	---	-	44894232	AAGT	-	44894229	8	5	84	1	0	1	0	1	0	0	1	0	8167	28	1	0	644	0	KDM6A	23	44894229	Splice_Site	DEL	AAGT	TCGA-IB-A5SP-01A-11D-A32N-08	10744055	44894229	110376331	180	32728											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	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.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	188						7	188	---	---	---	---	-	70360682	GCA	-	70360680	7	5	84	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-IB-A5SP-01A-11D-A32N-08	25466451	70360680	84909880	181	32729											
ZMAT1	84460	broad.mit.edu	37	chrX	101138639	101138639	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taagctttcctgaactgaccTtgactctatcctcctctctt	4	14	2	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:101138639T>C	ENST00000372782.3	-	7	1807	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R	ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K416R|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	587						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGAACTGACCTTGACTCTATC	0.378																																						ENST00000458570.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1246-1248)aAg>aGg		zinc finger, matrin-type 1							230	193	206					X																	101138639		2203	4300	6503	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138639T>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1760A>G	X.37:g.101138639T>C	ENSP00000361868:p.Lys587Arg					ZMAT1_ENST00000372782.3_Missense_Mutation_p.K587R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.K587R	p.K416R			A7MD47	A7MD47_HUMAN			9	2577	-			416					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1247A>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.914913	0.00503	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.23552	2.48;2.48;1.9	3.75	1.02	0.19986	.	1.153020	0.06414	N	0.721174	T	0.06917	0.0176	N	0.00729	-1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32534	-0.9903	10	0.06099	T	0.92	2.4748	7.3368	0.26615	0.0:0.6725:0.0:0.3275	.	587	Q5H9K5	ZMAT1_HUMAN	R	587;587;416	ENSP00000361868:K587R;ENSP00000437529:K587R;ENSP00000413044:K416R	ENSP00000361868:K587R	K	-	2	0	ZMAT1	101025295	0.000000	0.05858	0.000000	0.03702	0.299000	0.27559	0.140000	0.16056	0.077000	0.16863	-0.296000	0.09543	AAG		0.378	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			7	313	0	0	0	1	0	7	313					C	101138639	T	C	101138639	3	2	84	1	0	0	0	0	1	0	0	0	17744	1609	56	4	160	4	ZMAT1	23	101138639	Missense_Mutation	SNP	T	TCGA-IB-A5SP-01A-11D-A32N-08	30777959	101138639	54131921	182	32730											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	805						7	805	---	---	---	---	-	140994641	CTC	-	140994639	7	5	84	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-IB-A5SP-01A-11D-A32N-08	39856000	140994639	14275921	183	32731											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	1112	0	0	0	1	0	8	1112					A	140994960	G	A	140994960	2	1	84	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-IB-A5SP-01A-11D-A32N-08	321	140994960	14275600	184	32732											
AFF2	2334	broad.mit.edu	37	chrX	147744171	147744171	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaccaacactgaaaccttCaattgaatttgagaacagct	5	11	2	3			TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:147744171C>A	ENST00000370460.2	+	3	1402	c.923C>A	c.(922-924)tCa>tAa	p.S308*	AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	308					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)					CTGAAACCTTCAATTGAATTT	0.478																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(922-924)tCa>tAa		AF4/FMR2 family, member 2							87	79	82					X																	147744171		2203	4300	6503	SO:0001587	stop_gained	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147744171C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.923C>A	X.37:g.147744171C>A	ENSP00000359489:p.Ser308*					AFF2_ENST00000342251.3_Nonsense_Mutation_p.S304*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S304*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S304*	p.S308*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			3	1402	+	Acute lymphoblastic leukemia(192;6.56e-05)		308					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Nonsense_Mutation	SNP	ENST00000370460.2	37	c.923C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	41	8.941224	0.99010	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	.	.	.	5.92	4.89	0.63831	.	0.113933	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8604	0.70376	0.0:0.9173:0.0:0.0827	.	.	.	.	X	308;304;304;304	.	ENSP00000345459:S304X	S	+	2	0	AFF2	147551863	0.999000	0.42202	0.959000	0.39883	0.949000	0.60115	4.247000	0.58750	2.492000	0.84095	0.600000	0.82982	TCA		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		6	303	1	0	1.6384e-10	1	1.71832e-10	6	303					A	147744171	C	A	147744171	4	1	84	1	0	0	0	0	0	1	0	0	357	838	29	3	933	3	AFF2	23	147744171	Nonsense_Mutation	SNP	C	TCGA-IB-A5SP-01A-11D-A32N-08	6749211	147744171	7526389	185	32733											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-IB-A5SP-01A-11D-A32N-08	TCGA-IB-A5SP-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd4faec8-6fae-4ef2-95e0-7bbaea030219	c87e1799-db25-4e22-a193-f020949f79ac	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	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)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	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.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	234						7	234	---	---	---	---	-	149639327	CAG	-	149639325	7	5	84	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-IB-A5SP-01A-11D-A32N-08	1895154	149639325	5631235	186	32734											
ARID1A	8289	broad.mit.edu	37	chr1	27107212	27107213	+	Frame_Shift_Ins	INS	-	-	TT													ctcattggtttcacaagtcaINStttgtgatgtactgtttttg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:27107212_27107213insTT	ENST00000324856.7	+	20	7194_7195	c.6823_6824insTT	c.(6823-6825)attfs	p.I2275fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.I603fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.I1892fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.I2058fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2275					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.I2275T(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCACAAGTCATTTGTGATGTA	0.5			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Missense(1)	p.I2275T(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6823-6825)ttgfs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27107212_27107213insTT	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.6824_6825dupTT	1.37:g.27107213_27107214dupTT	ENSP00000320485:p.Ile2275fs					ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.L1892fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.L2058fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.L603fs	p.L2275fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	7194_7195	+		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)	2275					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.6823_6824insTT	CCDS285.1																																																																																				0.5	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		46	552						46	552	---	---	---	---	TT	27107213	-	TT	27107212	7	5	85	1	0	1	1	0	0	0	0	0	913	217	8	0	6901	0	ARID1A	1	27107212	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08		27107212	222143409	1	32735											
ZMYM4	9202	broad.mit.edu	37	chr1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A													gtttgtcaacatatgaactgINSaaaaaaaaacctattgttac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					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)				CATATGAACTGAAAAAAAAACC	0.342																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1279-1284)ctaaaafs		zinc finger, MYM-type 4																																				SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35846959_35846960insA	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.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs					ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1361_1362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	427					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	ENST00000314607.6	37	c.1281_1282insA	CCDS389.1																																																																																				0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		8	379						8	379	---	---	---	---	A	35846960	-	A	35846959	7	5	85	1	0	1	1	0	0	0	0	0	17755	1277	45	0	1311	0	ZMYM4	1	35846959	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	8739747	35846959	213403662	2	32736											
MACF1	23499	broad.mit.edu	37	chr1	39833893	39833893	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cctggtcactgaactgagctCttgtggctttgcgctggact	12	11	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:39833893C>T	ENST00000372915.3	+	49	12947	c.12860C>T	c.(12859-12861)tCt>tTt	p.S4287F	MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000564288.1_Missense_Mutation_p.S4282F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4287					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)			GAACTGAGCTCTTGTGGCTTT	0.448																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(12844-12846)tCt>tTt		microtubule-actin crosslinking factor 1							121	115	117					1																	39833893		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39833893C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12860C>T	1.37:g.39833893C>T	ENSP00000362006:p.Ser4287Phe					MACF1_ENST00000361689.2_Missense_Mutation_p.S2220F|MACF1_ENST00000372915.3_Missense_Mutation_p.S4287F|MACF1_ENST00000567887.1_Missense_Mutation_p.S4319F|MACF1_ENST00000545844.1_Missense_Mutation_p.S2220F|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.S2722F|MACF1_ENST00000539005.1_Missense_Mutation_p.S2220F|MACF1_ENST00000317713.7_Missense_Mutation_p.S2220F	p.S4282F			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		50	13622	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4287					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.12845C>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.340087	0.81911	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.65178	-0.11;1.23;-0.11;-0.14;0.03;1.0	5.85	3.83	0.44106	.	0.499782	0.18532	N	0.138463	T	0.72993	0.3530	L	0.53249	1.67	0.80722	D	1	D;B;P;B	0.76494	0.999;0.089;0.942;0.033	D;B;P;B	0.72982	0.979;0.052;0.708;0.03	T	0.73418	-0.3989	10	0.52906	T	0.07	.	12.4341	0.55590	0.1331:0.7388:0.1281:0.0	.	4287;2220;2220;2185	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	F	2220;4287;2220;2220;2220;2722	ENSP00000439537:S2220F;ENSP00000362006:S4287F;ENSP00000354573:S2220F;ENSP00000313438:S2220F;ENSP00000444364:S2220F;ENSP00000289893:S2722F	ENSP00000289893:S2722F	S	+	2	0	MACF1	39606480	0.979000	0.34478	0.995000	0.50966	0.977000	0.68977	1.987000	0.40687	1.418000	0.47098	0.467000	0.42956	TCT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		25	342	0	0	0	1	0	25	342					T	39833893	C	T	39833893	3	4	85	1	0	0	0	0	1	0	0	0	9183	913	32	2	12988	2	MACF1	1	39833893	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3986934	39833893	209416728	3	32737											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		11	359						11	359	---	---	---	---	-	46184898	AC	-	46184897	7	5	85	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-A5SQ-01A-11D-A32N-08	6351004	46184897	203065724	4	32738											
GLIS1	148979	broad.mit.edu	37	chr1	53975547	53975547	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggcagaggcgggggTggagggctctggaagggtgg	26	5	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:53975547T>G	ENST00000312233.2	-	8	2078	c.1512A>C	c.(1510-1512)ccA>ccC	p.P504P		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						GAGGCGGGGGTGGAGGGCTCT	0.672																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1510-1512)ccA>ccC		GLIS family zinc finger 1							13	16	15					1																	53975547		2189	4285	6474	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53975547T>G	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.1512A>C	1.37:g.53975547T>G							p.P504P	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			8	2078	-			504			Pro-rich.			Silent	SNP	ENST00000312233.2	37	c.1512A>C	CCDS582.1																																																																																				0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		21	94	0	0	0	1	0	21	94					G	53975547	T	G	53975547	2	3	85	1	0	0	0	0	0	0	0	1	6474	1683	59	4		4	GLIS1	1	53975547	Silent	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	7790650	53975547	195275074	5	32739											
IGSF3	3321	broad.mit.edu	37	chr1	117158748	117158748	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaaagtattgcttatcAgtgctgggtgtgtggcattc	11	9	1	0	rs199696016		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:117158748A>G	ENST00000369486.3	-	3	1140	c.375T>C	c.(373-375)acT>acC	p.T125T	IGSF3_ENST00000369483.1_Silent_p.T125T|IGSF3_ENST00000318837.6_Silent_p.T125T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	125	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T125T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATTGCTTATCAGTGCTGGGTG	0.498																																						ENST00000369486.3																			2	Substitution - coding silent(2)	p.T125T(2)	endometrium(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(373-375)acT>acC		immunoglobulin superfamily, member 3							62	56	58					1																	117158748		2203	4300	6503	SO:0001819	synonymous_variant	3321					integral to membrane		g.chr1:117158748A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.375T>C	1.37:g.117158748A>G						IGSF3_ENST00000318837.6_Silent_p.T125T|IGSF3_ENST00000369483.1_Silent_p.T125T	p.T125T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	3	1140	-	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)	125			Ig-like C2-type 1.		A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	c.375T>C	CCDS30813.1																																																																																				0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		6	303	0	0	0	1	0	6	303					G	117158748	A	G	117158748	2	3	85	1	0	0	0	0	0	0	0	1	7631	175	7	4		4	IGSF3	1	117158748	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	63183201	117158748	132091873	6	32740											
NBPF10	100132406	broad.mit.edu	37	chr1	145325997	145325997	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcctgaagtcttgcaAgactcactggatagatgtta	11	7	2	3	rs199988926	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3868-3870)caA>caG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3870A>G	1.37:g.145325997A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.Q1290Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	193	0	0	0	1	0	4	193					G	145325997	A	G	145325997	2	3	85	1	0	0	0	0	0	0	0	1	10234	69	3	4		4	NBPF10	1	145325997	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	28167249	145325997	103924624	7	32741											
HRNR	388697	broad.mit.edu	37	chr1	152188637	152188638	+	Frame_Shift_Ins	INS	-	-	CG													agactggccagatccagagcINScctgttggccatagctagaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:152188637_152188638insCG	ENST00000368801.2	-	3	5542_5543	c.5467_5468insCG	c.(5467-5469)ggcfs	p.G1823fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1823					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)			AGATCCAGAGCCCTGTTGGCCA	0.594																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5467-5469)ctcfs		hornerin																																				SO:0001589	frameshift_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188637_152188638insCG	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.5467_5468insCG	1.37:g.152188637_152188638insCG	ENSP00000357791:p.Gly1823fs					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.L1823fs	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5542_5543	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1823					Q5DT20|Q5U1F4	Frame_Shift_Ins	INS	ENST00000368801.2	37	c.5467_5468insCG	CCDS30859.1																																																																																				0.594	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		10	1129						10	1129	---	---	---	---	CG	152188638	-	CG	152188637	7	5	85	1	0	1	1	0	0	0	0	0	7389	739	26	0	3088	0	HRNR	1	152188637	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	6862640	152188637	97061984	8	32742											
FLG2	388698	broad.mit.edu	37	chr1	152325465	152325465	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagatccggcttggccGtaagtgtgttctcgtgagtg	15	7	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:152325465G>A	ENST00000388718.5	-	3	4869	c.4797C>T	c.(4795-4797)taC>taT	p.Y1599Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1599					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)			CGGCTTGGCCGTAAGTGTGTT	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4795-4797)taC>taT		filaggrin family member 2							345	299	315					1																	152325465		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325465G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4797C>T	1.37:g.152325465G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.Y1599Y	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4869	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1599					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.4797C>T	CCDS30861.1																																																																																				0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	1258	0	0	0	1	0	7	1258					A	152325465	G	A	152325465	2	1	85	1	0	0	0	0	0	0	0	1	5948	1140	40	1		1	FLG2	1	152325465	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	136828	152325465	96925156	9	32743											
DCST1	149095	broad.mit.edu	37	chr1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtcgttggtttgaccGcaagcatgaacagtgcatga	12	10	0	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537																																						ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(793-795)cGc>cAc		DC-STAMP domain containing 1							175	132	147					1																	155014235		2203	4300	6503	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155014235G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.794G>A	1.37:g.155014235G>A	ENSP00000295542:p.Arg265His					DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H	p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		8	890	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		265					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.794G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935876	0.34189	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.73	-6.0	0.02206	.	2.011450	0.02298	N	0.070951	T	0.11024	0.0269	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13872	-1.0493	10	0.41790	T	0.15	0.7543	13.3586	0.60642	0.386:0.0:0.614:0.0	.	240;290;265	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	H	265;265;240;265	ENSP00000295542:R265H;ENSP00000376271:R265H;ENSP00000387369:R240H;ENSP00000357404:R265H	ENSP00000295542:R265H	R	+	2	0	DCST1	153280859	0.000000	0.05858	0.001000	0.08648	0.559000	0.35586	-1.570000	0.02140	-1.129000	0.02918	-1.332000	0.01269	CGC		0.537	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		7	580	0	0	0	1	0	7	580					A	155014235	G	A	155014235	3	1	85	1	0	0	0	0	1	0	0	0	4313	1087	38	1	820	1	DCST1	1	155014235	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2688770	155014235	94236386	10	32744											
LAMB3	3914	broad.mit.edu	37	chr1	209800758	209800758	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggctgagggagttgtgCgggtcgcaggcacacggttc	19	8	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:209800758C>T	ENST00000356082.4	-	12	1589	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	LAMB3_ENST00000391911.1_Silent_p.P485P|LAMB3_ENST00000367030.3_Silent_p.P485P	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	485	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGAGTTGTGCGGGTCGCAGG	0.647											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1453-1455)ccG>ccA		laminin, beta 3							56	47	50					1																	209800758		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209800758C>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1455G>A	1.37:g.209800758C>T			OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2185	LAMB3_ENST00000367030.3_Silent_p.P485P|LAMB3_ENST00000356082.4_Silent_p.P485P	p.P485P	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	11	1844	-			485			Laminin EGF-like 5.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.1455G>A	CCDS1487.1																																																																																				0.647	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		5	248	0	0	0	1	0	5	248					T	209800758	C	T	209800758	2	4	85	1	0	0	0	0	0	0	0	1	8643	755	27	1		1	LAMB3	1	209800758	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	54786523	209800758	39449863	11	32745											
WNT3A	89780	broad.mit.edu	37	chr1	228210456	228210456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggtccccaagcagctcCgcttctgcaggaactacgtg	11	15	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:228210456C>T	ENST00000284523.1	+	2	238	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	54					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)				CAAGCAGCTCCGCTTCTGCAG	0.652																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(160-162)Cgc>Tgc		wingless-type MMTV integration site family, member 3A							53	51	52					1																	228210456		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210456C>T	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.160C>T	1.37:g.228210456C>T	ENSP00000284523:p.Arg54Cys					WNT3A_ENST00000366753.2_Missense_Mutation_p.R54C	p.R54C	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	238	+		Prostate(94;0.0405)	54					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.160C>T	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803864	0.90623	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77489	-1.1;-1.1	4.47	4.47	0.54385	.	0.068061	0.64402	D	0.000010	D	0.90573	0.7045	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	D	0.93130	0.6532	10	0.87932	D	0	.	16.9039	0.86120	0.0:1.0:0.0:0.0	.	54;54	P56704;Q3SY79	WNT3A_HUMAN;.	C	54	ENSP00000284523:R54C;ENSP00000355715:R54C	ENSP00000284523:R54C	R	+	1	0	WNT3A	226277079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.534000	0.82004	2.311000	0.77944	0.586000	0.80456	CGC		0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		29	278	0	0	0	1	0	29	278					T	228210456	C	T	228210456	3	4	85	1	0	0	0	0	1	0	0	0	17443	652	23	1	166	1	WNT3A	1	228210456	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	18409698	228210456	21040165	12	32746											
FMN2	56776	broad.mit.edu	37	chr1	240371421	240371421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctctaccCggagtgggcatacctcctcc	7	23	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	217	0	0	0	1	0	5	217					T	240371421	C	T	240371421	2	4	85	1	0	0	0	0	0	0	0	1	5975	639	23	1		1	FMN2	1	240371421	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	12160965	240371421	8879200	13	32747											
SF3B14	51639	broad.mit.edu	37	chr2	24297040	24297040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atttcttatatacaatatccGatttacttcaggtggaagtc	6	7	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:24297040G>A	ENST00000233468.4	-	2	268	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_016047.3	NP_057131.1														NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAATATCCGATTTACTTCA	0.294																																						ENST00000233468.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(55-57)Cgg>Tgg									91	89	90					2																	24297040		2203	4298	6501	SO:0001583	missense	0				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr2:24297040G>A																												ENST00000233468.4:c.55C>T	2.37:g.24297040G>A	ENSP00000233468:p.Arg19Trp						p.R19W	NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN			2	268	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		19			RRM.			Missense_Mutation	SNP	ENST00000233468.4	37	c.55C>T	CCDS1707.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901228	0.72754	.	.	ENSG00000115128	ENST00000233468	T	0.36157	1.27	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80708	-0.1262	10	0.87932	D	0	-7.637	12.7778	0.57459	0.0:0.0:0.8358:0.1642	.	19	Q9Y3B4	PM14_HUMAN	W	19	ENSP00000233468:R19W	ENSP00000233468:R19W	R	-	1	2	AC008073.5	24150544	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.084000	0.50143	2.351000	0.79841	0.467000	0.42956	CGG		0.294	SF3B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246826.1			16	140	0	0	0	1	0	16	140					A	24297040	G	A	24297040	3	1	85	1	0	0	0	0	1	0	0	0	14200	1057	37	1	334	1	SF3B14	2	24297040	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		24297040	218902333	14	32748											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_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)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	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	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	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					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	417						7	417	---	---	---	---	-	26693556	CTT	-	26693554	7	5	85	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-IB-A5SQ-01A-11D-A32N-08	2396514	26693554	216505819	15	32749											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		9	490						9	490	---	---	---	---	-	39095413	CCA	-	39095411	7	5	85	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-IB-A5SQ-01A-11D-A32N-08	12401857	39095411	204103962	16	32750											
ANTXR1	84168	broad.mit.edu	37	chr2	69409729	69409729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatatgaattccctgagccGcgaaatctcaacaacaatat	6	10	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:69409729G>A	ENST00000303714.4	+	16	1612	c.1290G>A	c.(1288-1290)ccG>ccA	p.P430P	RNU6-1216P_ENST00000362590.2_RNA|RNA5SP96_ENST00000516041.1_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	430					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						TCCCTGAGCCGCGAAATCTCA	0.473									Familial Infantile Hemangioma																													ENST00000303714.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1288-1290)ccG>ccA		anthrax toxin receptor 1							135	129	131					2																	69409729		2203	4300	6503	SO:0001819	synonymous_variant	84168	Familial Infantile Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69409729G>A	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.1290G>A	2.37:g.69409729G>A							p.P430P	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN			16	1612	+			430					A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	ENST00000303714.4	37	c.1290G>A	CCDS1892.1																																																																																				0.473	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		5	455	0	0	0	1	0	5	455					A	69409729	G	A	69409729	2	1	85	1	0	0	0	0	0	0	0	1	711	1074	38	1		1	ANTXR1	2	69409729	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	30314318	69409729	173789644	17	32751											
TET3	200424	broad.mit.edu	37	chr2	74317154	74317154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcgcaagttccgcctcGcaggggacaatcccaaagag	10	15	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:74317154G>A	ENST00000409262.3	+	5	2614	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	872					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						GTTCCGCCTCGCAGGGGACAA	0.592																																						ENST00000409262.3																			0				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						c.(2614-2616)Gca>Aca		tet methylcytosine dioxygenase 3							84	92	89					2																	74317154		2056	4202	6258	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74317154G>A		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.2614G>A	2.37:g.74317154G>A	ENSP00000386869:p.Ala872Thr						p.A872T	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			5	2614	+			872					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.2614G>A	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	7.764	0.705976	0.15172	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.11821	2.74	5.3	1.27	0.21489	TET cysteine-rich domain (1);	0.536026	0.21571	N	0.072420	T	0.04182	0.0116	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.43163	-0.9408	10	0.06891	T	0.86	.	5.0566	0.14537	0.4494:0.1493:0.4013:0.0	.	872	O43151	TET3_HUMAN	T	872	ENSP00000386869:A872T	ENSP00000233310:A872T	A	+	1	0	TET3	74170662	0.023000	0.18921	0.016000	0.15963	0.975000	0.68041	0.734000	0.26101	0.331000	0.23511	0.655000	0.94253	GCA		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			51	591	0	0	0	1	0	51	591					A	74317154	G	A	74317154	3	1	85	1	0	0	0	0	1	0	0	0	15823	1087	38	1	2632	1	TET3	2	74317154	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4907425	74317154	168882219	18	32752											
TGOLN2	10618	broad.mit.edu	37	chr2	85554351	85554351	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctgcgcctccgaaccTgacttgctagggctgtcttt	12	12	2	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:85554351T>C	ENST00000282120.2	-	3	500		c.e3-2		TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000409015.1_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S|TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S			O43493	TGON2_HUMAN	trans-golgi network protein 2							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CCTCCGAACCTGACTTGCTAG	0.602																																						ENST00000282120.2																			0											c.e3-2		trans-golgi network protein 2							311	314	313					2																	85554351		1956	4148	6104	SO:0001630	splice_region_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554351T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000282120.2:c.212-2A>G	2.37:g.85554351T>C						TGOLN2_ENST00000409015.1_Silent_p.S168S|TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S				O43493	TGON2_HUMAN			3	500	-								B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Splice_Site	SNP	ENST00000282120.2	37			.	.	.	.	.	.	.	.	.	.	T	0.755	-0.771466	0.02951	.	.	ENSG00000152291	ENST00000282120	.	.	.	2.95	-5.91	0.02269	.	.	.	.	.	.	.	.	.	.	.	0.21256	N	0.999746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0355	0.30491	0.1707:0.1246:0.0:0.7047	.	.	.	.	.	-1	.	.	.	-	.	.	TGOLN2	85407862	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.395000	0.01053	-2.566000	0.00470	-1.559000	0.00887	.		0.602	TGOLN2-201	KNOWN	basic	protein_coding	protein_coding		NM_006464	Intron	11	2416	0	0	0	1	0	11	2416					C	85554351	T	C	85554351	5	2	85	1	0	0	0	0	0	0	1	0	15888	1567	55	4	821	4	TGOLN2	2	85554351	Splice_Site	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	11237197	85554351	157645022	19	32753			1	20		3	2	17	N	T_G	8.631041e-05
TGOLN2	10618	broad.mit.edu	37	chr2	85554362	85554362	+	Missense_Mutation	SNP	G	G	T													ctccgaacctgacttgctagGgctgtctttttgggtctttg					rs202142629		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:85554362G>T	ENST00000409232.3	-	2	554	c.493C>A	c.(493-495)Cct>Act	p.P165T	TGOLN2_ENST00000444342.2_Missense_Mutation_p.P165T|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_Missense_Mutation_p.P165T|TGOLN2_ENST00000377386.3_Missense_Mutation_p.P165T|TGOLN2_ENST00000398263.2_Missense_Mutation_p.P165T			O43493	TGON2_HUMAN	trans-golgi network protein 2	165	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GACTTGCTAGGGCTGTCTTTT	0.597																																						ENST00000377386.3																			0											c.(493-495)Cct>Act		trans-golgi network protein 2							309	312	311					2																	85554362		1957	4148	6105	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554362G>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.493C>A	2.37:g.85554362G>T	ENSP00000386443:p.Pro165Thr					TGOLN2_ENST00000409015.1_Missense_Mutation_p.P165T|TGOLN2_ENST00000398263.2_Missense_Mutation_p.P165T|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.P165T|TGOLN2_ENST00000444342.2_Missense_Mutation_p.P165T	p.P165T			O43493	TGON2_HUMAN			2	955	-			165			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.493C>A	CCDS56126.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	11.38	1.622723	0.28889	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.14144	2.69;2.53;2.71;2.68;2.67	3.71	-5.04	0.02964	.	.	.	.	.	T	0.05823	0.0152	N	0.10972	0.075	0.09310	N	1	B;B;B;B	0.20261	0.023;0.011;0.043;0.011	B;B;B;B	0.22753	0.024;0.017;0.041;0.03	T	0.37174	-0.9717	9	0.46703	T	0.11	1.3552	4.1894	0.10414	0.3939:0.0:0.3627:0.2434	.	165;165;165;165	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	T	165	ENSP00000366603:P165T;ENSP00000381312:P165T;ENSP00000386443:P165T;ENSP00000387035:P165T;ENSP00000391190:P165T	ENSP00000366603:P165T	P	-	1	0	TGOLN2	85407873	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.866000	0.04245	-1.389000	0.02090	-0.531000	0.04308	CCT		0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		11	2391	1	0	1.58986e-06	1	1.68555e-06	11	2391					T	85554362	G	T	85554362	3	4	85	1	0	0	0	0	1	0	0	0	15888	1232	43	3	832	3	TGOLN2	2	85554362	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	11	85554362	157645011	20	32754	212	2	1	20		3	2	17	N	T_G	8.631041e-05
TGOLN2	10618	broad.mit.edu	37	chr2	85554367	85554367	+	Missense_Mutation	SNP	T	T	C													aacctgacttgctagggctgTctttttgggtctttgcctcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:85554367T>C	ENST00000409232.3	-	2	549	c.488A>G	c.(487-489)gAc>gGc	p.D163G	TGOLN2_ENST00000444342.2_Missense_Mutation_p.D163G|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_Missense_Mutation_p.D163G|TGOLN2_ENST00000377386.3_Missense_Mutation_p.D163G|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D163G			O43493	TGON2_HUMAN	trans-golgi network protein 2	163	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GCTAGGGCTGTCTTTTTGGGT	0.592																																						ENST00000377386.3																			0											c.(487-489)gAc>gGc		trans-golgi network protein 2							308	312	311					2																	85554367		1960	4149	6109	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554367T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.488A>G	2.37:g.85554367T>C	ENSP00000386443:p.Asp163Gly					TGOLN2_ENST00000409015.1_Missense_Mutation_p.D163G|TGOLN2_ENST00000398263.2_Missense_Mutation_p.D163G|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.D163G|TGOLN2_ENST00000444342.2_Missense_Mutation_p.D163G	p.D163G			O43493	TGON2_HUMAN			2	950	-			163			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.488A>G	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	T	9.293	1.050995	0.19827	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.13538	2.77;2.58;2.76;2.75;2.75	3.74	-7.49	0.01355	.	.	.	.	.	T	0.08935	0.0221	L	0.50333	1.59	0.09310	N	0.999999	B;B;B;B	0.16603	0.018;0.018;0.018;0.018	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.21314	-1.0249	9	0.33940	T	0.23	-0.3642	2.5568	0.04762	0.1733:0.164:0.4626:0.2001	.	163;163;163;163	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	G	163	ENSP00000366603:D163G;ENSP00000381312:D163G;ENSP00000386443:D163G;ENSP00000387035:D163G;ENSP00000391190:D163G	ENSP00000366603:D163G	D	-	2	0	TGOLN2	85407878	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.887000	0.01617	-2.865000	0.00325	0.326000	0.21444	GAC		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		13	2396	0	0	0	1	0	13	2396					C	85554367	T	C	85554367	3	2	85	1	0	0	0	0	1	0	0	0	15888	1667	58	4	837	4	TGOLN2	2	85554367	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	5	85554367	157645006	21	32755	212	2	1	20		3	2	17	N	T_G	8.631041e-05
TEKT4	150483	broad.mit.edu	37	chr2	95539831	95539832	+	Frame_Shift_Ins	INS	-	-	C													cgaggtgcaggctcatccgtINSactccaccaccttccaagag					rs199573327		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:95539831_95539832insC	ENST00000295201.4	+	3	828_829	c.691_692insC	c.(691-693)tacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGCTCATCCGTACTCCACCACC	0.663																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(691-693)ctcfs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539831_95539832insC	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	Exception_encountered	2.37:g.95539831_95539832insC	ENSP00000295201:p.Tyr231fs					AC097374.2_ENST00000568768.1_RNA	p.L231fs	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			3	828_829	+			231						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.691_692insC	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		7	525						7	525	---	---	---	---	C	95539832	-	C	95539831	7	5	85	1	0	1	1	0	0	0	0	0	15807	1638	57	0	701	0	TEKT4	2	95539831	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	9985464	95539831	147659542	22	32756											
MRPS5	64969	broad.mit.edu	37	chr2	95767442	95767442	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcctgaaagcatccatccGatcagtagctttcccaatag	6	12	1	1	rs376111435		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:95767442G>A	ENST00000272418.2	-	8	998	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	264	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				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						GCATCCATCCGATCAGTAGCT	0.338																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(790-792)Cgg>Tgg		mitochondrial ribosomal protein S5		G	TRP/ARG	0,4404		0,0,2202	50	48	49		790	4.4	0.3	2		49	1,8599		0,1,4299	no	missense	MRPS5	NM_031902.3	101	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	264/431	95767442	1,13003	2202	4300	6502	SO:0001583	missense	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95767442G>A	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.790C>T	2.37:g.95767442G>A	ENSP00000272418:p.Arg264Trp						p.R264W	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			8	998	-			264			S5 DRBM.		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	c.790C>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159629	0.38119	0.0	1.16E-4	ENSG00000144029	ENST00000272418	.	.	.	5.32	4.44	0.53790	Ribosomal protein S5, N-terminal, conserved site (1);Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.69314	0.3097	M	0.75447	2.3	0.58432	D	0.999997	D	0.67145	0.996	P	0.58970	0.849	T	0.69665	-0.5084	9	0.37606	T	0.19	-20.9735	11.6662	0.51374	0.0:0.0:0.8223:0.1777	.	264	P82675	RT05_HUMAN	W	264	.	ENSP00000272418:R264W	R	-	1	2	MRPS5	95131169	0.970000	0.33590	0.256000	0.24389	0.096000	0.18686	1.357000	0.34090	1.350000	0.45770	0.591000	0.81541	CGG		0.338	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		8	108	0	0	0	1	0	8	108					A	95767442	G	A	95767442	3	1	85	1	0	0	0	0	1	0	0	0	9887	1057	37	1	522	1	MRPS5	2	95767442	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	227611	95767442	147431931	23	32757											
GLI2	2736	broad.mit.edu	37	chr2	121736059	121736059	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaggagtttgtgtgccGctggcaggcctgcacgcggg	18	9	0	1	rs150170739		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:121736059G>A	ENST00000452319.1	+	10	1478	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	GLI2_ENST00000314490.11_Missense_Mutation_p.R145H|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R473H					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)				TTTGTGTGCCGCTGGCAGGCC	0.632																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1417-1419)cGc>cAc		GLI family zinc finger 2		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	138	131	133		1418	4	1	2	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GLI2	NM_005270.4	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	473/1587	121736059	2,13004	2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121736059G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1418G>A	2.37:g.121736059G>A	ENSP00000390436:p.Arg473His					GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R473H|GLI2_ENST00000314490.11_Missense_Mutation_p.R145H	p.R473H			P10070	GLI2_HUMAN			10	1478	+	Renal(3;0.0496)	Prostate(154;0.0623)	473						Missense_Mutation	SNP	ENST00000452319.1	37	c.1418G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234684	0.58886	2.27E-4	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;D	0.91792	-2.91;-2.91;-2.91	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.115971	0.64402	D	0.000011	D	0.92463	0.7607	N	0.25890	0.77	0.80722	D	1	B;D;D;B;B	0.89917	0.188;1.0;0.983;0.301;0.054	B;D;P;B;B	0.80764	0.035;0.994;0.599;0.052;0.04	D	0.91007	0.4847	10	0.26408	T	0.33	.	16.6998	0.85346	0.0:0.0:1.0:0.0	.	473;456;128;128;145	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	H	473;473;145	ENSP00000390436:R473H;ENSP00000354586:R473H;ENSP00000312694:R145H	ENSP00000312694:R145H	R	+	2	0	GLI2	121452529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.714000	0.84703	2.249000	0.74217	0.491000	0.48974	CGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		8	855	0	0	0	1	0	8	855					A	121736059	G	A	121736059	3	1	85	1	0	0	0	0	1	0	0	0	6467	1087	38	1	1452	1	GLI2	2	121736059	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	25968617	121736059	121463314	24	32758											
TTN	7273	broad.mit.edu	37	chr2	179430536	179430536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggttcagcagctttcaCggcatcaacagtttccactg	10	11	3	0	rs370589806		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:179430536C>T	ENST00000591111.1	-	276	75624	c.75400G>A	c.(75400-75402)Gtg>Atg	p.V25134M	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN_ENST00000589042.1_Missense_Mutation_p.V26775M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25134	Fibronectin type-III 82. {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)			GCAGCTTTCACGGCATCAACA	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80323-80325)Gtg>Atg		titin		C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3993		0,1,1996	213	203	206		53128,72619,53503,53704	4.9	1	2		206	0,8366		0,0,4183	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	21,21,21,21	0,1,6179	TT,TC,CC		0.0,0.025,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging	17710/26927,24207/33424,17835/27052,17902/27119	179430536	1,12359	1997	4183	6180	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430536C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75400G>A	2.37:g.179430536C>T	ENSP00000465570:p.Val25134Met					TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25134M|TTN_ENST00000460472.2_Missense_Mutation_p.V17710M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24207M|TTN_ENST00000342175.6_Missense_Mutation_p.V17902M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17835M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA	p.V26775M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	80547	-			25134			Ig-like 128.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.80323G>A		.	.	.	.	.	.	.	.	.	.	C	10.61	1.399923	0.25291	2.5E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.81	4.92	0.64577	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64170	0.2574	M	0.85197	2.74	0.35338	D	0.786241	D;D;D;D	0.67145	0.996;0.996;0.996;0.979	P;P;P;B	0.51324	0.666;0.666;0.666;0.397	T	0.77003	-0.2749	9	0.87932	D	0	.	8.7455	0.34583	0.1243:0.7408:0.0:0.1349	.	17710;17835;17902;25134	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	24207;17710;17902;17835;17708	ENSP00000343764:V24207M;ENSP00000434586:V17710M;ENSP00000340554:V17902M;ENSP00000352154:V17835M	ENSP00000340554:V17902M	V	-	1	0	TTN	179138782	0.982000	0.34865	0.987000	0.45799	0.977000	0.68977	2.631000	0.46502	1.436000	0.47453	0.555000	0.69702	GTG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	947	0	0	0	1	0	6	947					T	179430536	C	T	179430536	3	4	85	1	0	0	0	0	1	0	0	0	16789	536	19	1	27804	1	TTN	2	179430536	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	57694477	179430536	63768837	25	32759											
KCTD18	130535	broad.mit.edu	37	chr2	201354855	201354855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcttcccgttctcagtccGcactcccaaggcacgggcag	10	16	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:201354855G>A	ENST00000359878.3	-	7	1759	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	417					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCTCAGTCCGCACTCCCAAG	0.592																																						ENST00000359878.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1249-1251)Cgg>Tgg		potassium channel tetramerization domain containing 18							49	53	52					2																	201354855		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201354855G>A	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.1249C>T	2.37:g.201354855G>A	ENSP00000352941:p.Arg417Trp					KCTD18_ENST00000409157.1_Missense_Mutation_p.R417W	p.R417W	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN			7	1759	-			417					Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.1249C>T	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121811	0.20877	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.35789	1.29;1.29	5.04	2.02	0.26589	.	1.373990	0.04721	N	0.419262	T	0.17492	0.0420	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17868	-1.0355	10	0.41790	T	0.15	2.0253	4.1114	0.10060	0.2142:0.1959:0.5899:0.0	.	417	Q6PI47	KCD18_HUMAN	W	417	ENSP00000352941:R417W;ENSP00000386751:R417W	ENSP00000352941:R417W	R	-	1	2	KCTD18	201063100	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.283000	0.08433	0.715000	0.32103	0.650000	0.86243	CGG		0.592	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387		4	215	0	0	0	1	0	4	215					A	201354855	G	A	201354855	3	1	85	1	0	0	0	0	1	0	0	0	8135	1086	38	1	35	1	KCTD18	2	201354855	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	21924319	201354855	41844518	26	32760											
GLB1L	79411	broad.mit.edu	37	chr2	220104663	220104663	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaaaatctacagtggTatagagtccccggagggagc	14	9	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:220104663T>G	ENST00000295759.7	-	7	1013	c.700A>C	c.(700-702)Acc>Ccc	p.T234P	GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000497855.1_Intron|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	234					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACAGTGGTATAGAGTCCC	0.527																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(700-702)Acc>Ccc		galactosidase, beta 1-like							104	114	110					2																	220104663		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220104663T>G		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.700A>C	2.37:g.220104663T>G	ENSP00000295759:p.Thr234Pro					GLB1L_ENST00000409640.1_Intron|GLB1L_ENST00000392089.2_Missense_Mutation_p.T234P|GLB1L_ENST00000356283.3_Intron|GLB1L_ENST00000497855.1_Intron	p.T234P			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1013	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	234					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.700A>C	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304575	0.60305	.	.	ENSG00000163521	ENST00000295759;ENST00000392089	D;D	0.97924	-4.61;-4.61	5.37	1.38	0.22167	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.331520	0.36034	N	0.002831	D	0.92169	0.7517	N	0.15975	0.35	0.80722	D	1	B	0.23185	0.081	B	0.28991	0.097	D	0.84745	0.0753	10	0.33940	T	0.23	-4.5903	5.7925	0.18369	0.127:0.2293:0.0:0.6437	.	234	Q6UWU2	GLB1L_HUMAN	P	234	ENSP00000295759:T234P;ENSP00000375939:T234P	ENSP00000295759:T234P	T	-	1	0	GLB1L	219812907	0.814000	0.29104	0.987000	0.45799	0.988000	0.76386	1.378000	0.34328	0.461000	0.27071	0.528000	0.53228	ACC		0.527	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		60	813	0	0	0	1	0	60	813					G	220104663	T	G	220104663	3	3	85	1	0	0	0	0	1	0	0	0	6457	1638	57	4	1308	4	GLB1L	2	220104663	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	18749808	220104663	23094710	27	32761											
DOCK10	55619	broad.mit.edu	37	chr2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaaacagtccttataCgcttagtcaggtccttcacc	5	14	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr2:225659771C>T	ENST00000258390.7	-	45	5046	c.4979G>A	c.(4978-4980)cGt>cAt	p.R1660H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1654H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1660					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1658H(1)|p.R198H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGTCCTTATACGCTTAGTCAG	0.478																																						ENST00000409592.3																			2	Substitution - Missense(2)	p.R1658H(1)|p.R198H(1)	large_intestine(2)	NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4960-4962)cGt>cAt		dedicator of cytokinesis 10							142	143	143					2																	225659771		2005	4185	6190	SO:0001583	missense	55619						GTP binding	g.chr2:225659771C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4979G>A	2.37:g.225659771C>T	ENSP00000258390:p.Arg1660His					DOCK10_ENST00000258390.7_Missense_Mutation_p.R1660H	p.R1654H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	45	5074	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1660			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4961G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	DOCK10	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT		0.478	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			47	555	0	0	0	1	0	47	555					T	225659771	C	T	225659771	3	4	85	1	0	0	0	0	1	0	0	0	4701	536	19	1	1629	1	DOCK10	2	225659771	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	5555108	225659771	17539602	28	32762											
NUP210	23225	broad.mit.edu	37	chr3	13377062	13377062	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtccggccttttacccgGccgagcacgttcatggcaaa	11	15	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:13377062G>A	ENST00000254508.5	-	28	3817	c.3735C>T	c.(3733-3735)ggC>ggT	p.G1245G	NUP210_ENST00000485755.1_5'Flank	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1245					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)					CTTTTACCCGGCCGAGCACGT	0.607																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3733-3735)ggC>ggT		nucleoporin 210kDa							80	76	78					3																	13377062		2203	4300	6503	SO:0001819	synonymous_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13377062G>A	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.3735C>T	3.37:g.13377062G>A							p.G1245G	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			28	3817	-	all_neural(104;0.187)		1245					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	ENST00000254508.5	37	c.3735C>T	CCDS33704.1																																																																																				0.607	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		32	294	0	0	0	1	0	32	294					A	13377062	G	A	13377062	2	1	85	1	0	0	0	0	0	0	0	1	10802	1190	42	2		2	NUP210	3	13377062	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		13377062	184645368	29	32763											
KCNH8	131096	broad.mit.edu	37	chr3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcctcttgcgtcttttgCgtctgctgcagaagttagac	11	11	3	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:19436644C>T	ENST00000328405.2	+	7	1284	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	340					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R340C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCGTCTTTTGCGTCTGCTGCA	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			1	Substitution - Missense(1)	p.R340C(1)	lung(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(1018-1020)Cgt>Tgt		potassium voltage-gated channel, subfamily H (eag-related), member 8							196	162	174					3																	19436644		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19436644C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1018C>T	3.37:g.19436644C>T	ENSP00000328813:p.Arg340Cys					KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	p.R340C	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			7	1284	+			340					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1018C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672024	0.88348	.	.	ENSG00000183960	ENST00000328405	D	0.99523	-6.08	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.32416	U	0.006131	D	0.99722	0.9892	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97601	1.0123	9	.	.	.	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	340;340	B7Z398;Q96L42	.;KCNH8_HUMAN	C	340	ENSP00000328813:R340C	.	R	+	1	0	KCNH8	19411648	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	4.787000	0.62432	2.742000	0.94016	0.650000	0.86243	CGT		0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		5	532	0	0	0	1	0	5	532					T	19436644	C	T	19436644	3	4	85	1	0	0	0	0	1	0	0	0	8068	768	27	1	1044	1	KCNH8	3	19436644	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	6059582	19436644	178585786	30	32764											
KLHDC8B	200942	broad.mit.edu	37	chr3	49211714	49211714	+	Frame_Shift_Del	DEL	C	C	-													gggaatgggccctgacacggCcccccaggcccaggtacgtg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:49211714delC	ENST00000332780.2	+	3	628	c.419delC	c.(418-420)gccfs	p.A140fs	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	140						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTGACACGGCCCCCCAGGCC	0.607																																						ENST00000332780.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7						c.(418-420)gcfs		kelch domain containing 8B							99	95	96					3																	49211714		2203	4300	6503	SO:0001589	frameshift_variant	200942					cytoplasm		g.chr3:49211714delC		CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.419delC	3.37:g.49211714delC	ENSP00000327468:p.Ala140fs					KLHDC8B_ENST00000476495.2_3'UTR	p.A140fs	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	3	628	+			140						Frame_Shift_Del	DEL	ENST00000332780.2	37	c.419delC	CCDS2791.1																																																																																				0.607	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345974.1	NM_173546		7	733						7	733	---	---	---	---	-	49211714	C	-	49211714	7	5	85	1	0	1	0	1	0	0	0	0	8393	739	26	0	425	0	KLHDC8B	3	49211714	Frame_Shift_Del	DEL	C	TCGA-IB-A5SQ-01A-11D-A32N-08	29775070	49211714	148810716	31	32765											
PRKCD	5580	broad.mit.edu	37	chr3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-													ttgtgatggagttcctcaacGggggggacctgatgtaccac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	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)	GTTCCTCAACGGGGGGGACCT	0.602																																						ENST00000394729.2																			0				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						c.(1294-1296)ggfs		protein kinase C, delta							215	220	218					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		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.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		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)	13	1622	+		Ovarian(412;0.0728)	433			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	1601						8	1601	---	---	---	---	-	53220653	G	-	53220653	7	5	85	1	0	1	0	1	0	0	0	0	12556	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4008939	53220653	144801777	32	32766											
STXBP5L	9515	broad.mit.edu	37	chr3	121097633	121097633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaacgtctttctagtgcCgatgtttcaaaagtaaatcg	9	7	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:121097633C>T	ENST00000273666.6	+	22	2590	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000492541.1_Silent_p.A773A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	773					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)		TTTCTAGTGCCGATGTTTCAA	0.473																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2317-2319)gcC>gcT		syntaxin binding protein 5-like							60	56	57					3																	121097633		1870	4105	5975	SO:0001819	synonymous_variant	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121097633C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2319C>T	3.37:g.121097633C>T						STXBP5L_ENST00000472879.1_Silent_p.A749A|STXBP5L_ENST00000492541.1_Silent_p.A773A|STXBP5L_ENST00000471454.1_Silent_p.A749A|STXBP5L_ENST00000497029.1_Intron	p.A773A	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	22	2590	+			773					Q4G1B4|Q6PIC3	Silent	SNP	ENST00000273666.6	37	c.2319C>T	CCDS43137.1																																																																																				0.473	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	176	0	0	0	1	0	8	176					T	121097633	C	T	121097633	2	4	85	1	0	0	0	0	0	0	0	1	15409	639	23	1		1	STXBP5L	3	121097633	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	67876980	121097633	76924797	33	32767											
PARP14	54625	broad.mit.edu	37	chr3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A													ctctgttttgcaggagtgtgINSaaaaaaaaaattactcatcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3955-3957)aaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433231_122433232insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs						p.K1319fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4221_4222	+			1319			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.3955_3956insA	CCDS46894.1																																																																																				0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		12	238						12	238	---	---	---	---	A	122433232	-	A	122433231	7	5	85	1	0	1	1	0	0	0	0	0	11500	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	1335598	122433231	75589199	34	32768											
EPHB1	2047	broad.mit.edu	37	chr3	134514513	134514513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgctcctcctggcatccGcagtggctgcgatggaaggt	13	12	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr3:134514513G>A	ENST00000398015.3	+	1	410	c.40G>A	c.(40-42)Gca>Aca	p.A14T	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	14					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						CCTGGCATCCGCAGTGGCTGC	0.687																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(40-42)Gca>Aca		EPH receptor B1							74	80	78					3																	134514513		1990	4168	6158	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134514513G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.40G>A	3.37:g.134514513G>A	ENSP00000381097:p.Ala14Thr					EPHB1_ENST00000488154.1_3'UTR	p.A14T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			1	410	+			14					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.40G>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180804	0.38511	.	.	ENSG00000154928	ENST00000398015	T	0.73152	-0.72	4.5	4.5	0.54988	.	0.872352	0.09539	N	0.788515	T	0.70290	0.3207	L	0.28400	0.85	0.80722	D	1	D;D	0.62365	0.991;0.959	P;P	0.52957	0.714;0.499	T	0.63554	-0.6611	10	0.32370	T	0.25	.	14.1131	0.65134	0.0:0.0:1.0:0.0	.	14;14	B5A969;P54762	.;EPHB1_HUMAN	T	14	ENSP00000381097:A14T	ENSP00000381097:A14T	A	+	1	0	EPHB1	135997203	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.577000	0.60922	2.046000	0.60703	0.561000	0.74099	GCA		0.687	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		6	710	0	0	0	1	0	6	710					A	134514513	G	A	134514513	3	1	85	1	0	0	0	0	1	0	0	0	5192	1087	38	1	42	1	EPHB1	3	134514513	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	12081282	134514513	63507917	35	32769											
QDPR	5860	broad.mit.edu	37	chr4	17488811	17488811	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggttaccacctggattagGcttcctgagctcggtcggtt	13	10	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:17488811G>A	ENST00000281243.5	-	7	857	c.678C>T	c.(676-678)agC>agT	p.S226S	QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000508623.1_Missense_Mutation_p.A162V|QDPR_ENST00000428702.2_Silent_p.S195S	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	226					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTGGATTAGGCTTCCTGAGC	0.453																																						ENST00000508623.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(484-486)gCc>gTc		quinoid dihydropteridine reductase	NADH(DB00157)						161	141	148					4																	17488811		2203	4300	6503	SO:0001819	synonymous_variant	5860				dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	g.chr4:17488811G>A	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.678C>T	4.37:g.17488811G>A						QDPR_ENST00000428702.2_Silent_p.S195S|QDPR_ENST00000513615.1_3'UTR|QDPR_ENST00000281243.5_Silent_p.S226S	p.A162V			P09417	DHPR_HUMAN			5	517	-			0					A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	ENST00000281243.5	37	c.485C>T	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196879	0.38806	.	.	ENSG00000151552	ENST00000508623	D	0.92699	-3.09	5.29	3.56	0.40772	.	.	.	.	.	D	0.90648	0.7067	.	.	.	0.23260	N	0.998021	.	.	.	.	.	.	D	0.84350	0.0532	6	0.87932	D	0	-26.8617	5.9529	0.19257	0.3459:0.0:0.6541:0.0	.	.	.	.	V	162	ENSP00000426377:A162V	ENSP00000426377:A162V	A	-	2	0	QDPR	17097909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.824000	0.27379	1.237000	0.43756	0.650000	0.86243	GCC		0.453	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	NM_000320		27	361	0	0	0	1	0	27	361					A	17488811	G	A	17488811	2	1	85	1	0	0	0	0	0	0	0	1	12922	1194	42	2		2	QDPR	4	17488811	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		17488811	173665465	36	32770											
TBC1D1	23216	broad.mit.edu	37	chr4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-													acctcatcagtcctgacaccAaaaaaatagcattggagaaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aaafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	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	309	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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						TCCTGACACCAAAAAAATAGC	0.313																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(922-924)aafs		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							68	72	70					4																	38020014		2203	4298	6501	SO:0001589	frameshift_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38020014delA	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.922delA	4.37:g.38020014delA	ENSP00000261439:p.Lys309fs					TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			4	1277	+			309			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	ENST00000261439.4	37	c.922delA	CCDS33972.1																																																																																				0.313	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		8	384						8	384	---	---	---	---	-	38020014	A	-	38020014	7	5	85	1	0	1	0	1	0	0	0	0	15649	131	5	0	932	0	TBC1D1	4	38020014	Frame_Shift_Del	DEL	A	TCGA-IB-A5SQ-01A-11D-A32N-08	20531203	38020014	153134262	37	32771											
KIAA1211	57482	broad.mit.edu	37	chr4	57180336	57180336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgaggaagagagaagacGccaagaagactactggcgag	14	8	0	5			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:57180336G>A	ENST00000504228.1	+	6	773	c.668G>A	c.(667-669)cGc>cAc	p.R223H	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H			Q6ZU35	K1211_HUMAN	KIAA1211	223	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGAAGACGCCAAGAAGAC	0.612																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(667-669)cGc>cAc		KIAA1211							35	45	42					4																	57180336		2035	4190	6225	SO:0001583	missense	57482							g.chr4:57180336G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.668G>A	4.37:g.57180336G>A	ENSP00000423366:p.Arg223His					KIAA1211_ENST00000541073.1_Missense_Mutation_p.R216H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R223H	p.R223H			Q6ZU35	K1211_HUMAN			6	773	+	Glioma(25;0.08)|all_neural(26;0.101)		223			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.668G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	9.671	1.146801	0.21288	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12255	2.7;2.7;2.7	5.07	-0.161	0.13371	.	.	.	.	.	T	0.07683	0.0193	L	0.44542	1.39	0.09310	N	1	B;B;B	0.29612	0.251;0.022;0.022	B;B;B	0.20767	0.031;0.007;0.007	T	0.36553	-0.9743	9	0.17369	T	0.5	-5.3546	0.3015	0.00274	0.2693:0.1396:0.2867:0.3044	.	216;216;223	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	223;223;216;133	ENSP00000264229:R223H;ENSP00000423366:R223H;ENSP00000444006:R216H	ENSP00000264229:R223H	R	+	2	0	KIAA1211	56875093	0.000000	0.05858	0.160000	0.22671	0.856000	0.48823	0.263000	0.18478	0.225000	0.20959	0.561000	0.74099	CGC		0.612	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		6	97	0	0	0	1	0	6	97					A	57180336	G	A	57180336	3	1	85	1	0	0	0	0	1	0	0	0	8245	1087	38	1	686	1	KIAA1211	4	57180336	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	19160322	57180336	133973940	38	32772											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68995528	68995528	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaagctgaatacttacGcgtacatcatgaacccagga	9	9	1	3	rs142296401	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:68995528G>A	ENST00000356291.2	-	1	70	c.11C>T	c.(10-12)gCa>gTa	p.A4V		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	4			A -> T (in dbSNP:rs10030708).			extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GAATACTTACGCGTACATCAT	0.448																																						ENST00000356291.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						c.e1+1		transmembrane protease, serine 11F		G	VAL/ALA	7,4399	12.9+/-30.5	0,7,2196	129	111	117		11	3.5	0.9	4	dbSNP_134	117	0,8600		0,0,4300	yes	missense-near-splice	TMPRSS11F	NM_207407.2	64	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign	4/439	68995528	7,12999	2203	4300	6503	SO:0001630	splice_region_variant	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68995528G>A	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"Serine peptidases / Transmembrane"	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.11+1C>T	4.37:g.68995528G>A							p.A4_splice	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN			1	70	-			4		A -> T (in dbSNP:rs10030708).			A8MXX2	Splice_Site	SNP	ENST00000356291.2	37	c.11_splice	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759073	0.31137	0.001589	0.0	ENSG00000198092	ENST00000356291	D	0.88509	-2.39	5.24	3.48	0.39840	.	1.880980	0.02227	N	0.064593	T	0.78748	0.4332	N	0.08118	0	0.34127	D	0.6648	P	0.48089	0.905	B	0.35770	0.21	T	0.70174	-0.4944	9	.	.	.	.	11.8719	0.52525	0.0:0.3399:0.6601:0.0	.	4	Q6ZWK6	TM11F_HUMAN	V	4	ENSP00000348639:A4V	.	A	-	2	0	TMPRSS11F	68678123	0.951000	0.32395	0.948000	0.38648	0.344000	0.29017	0.715000	0.25822	0.756000	0.33013	0.650000	0.86243	GCA		0.448	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407	Missense_Mutation	24	298	0	0	0	1	0	24	298					A	68995528	G	A	68995528	5	1	85	1	0	0	0	0	0	0	1	0	16295	1101	38	1	1345	1	TMPRSS11F	4	68995528	Splice_Site	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	11815192	68995528	122158748	39	32773											
NKX6-1	4825	broad.mit.edu	37	chr4	85414481	85414483	+	In_Frame_Del	DEL	GCC	GCC	-													tcggacgcgtgcagtaggagGccgccgccgccgccgctgct					rs143458004	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:85414481_85414483delGCC	ENST00000295886.4	-	3	1284_1286	c.1063_1065delGGC	c.(1063-1065)ggcdel	p.G355del	NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	355	Involved in DNA-binding. {ECO:0000250}.|Poly-Gly.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCAGTAGGAGGCCGCCGCCGCCG	0.675																																						ENST00000295886.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15						c.(1063-1065)del		NK6 homeobox 1				24,3,4239		2,0,20,0,3,2108						3.5	1			46	32,2,8218		1,0,30,0,2,4093	no	codingComplex	NKX6-1	NM_006168.2		3,0,50,0,5,6201	A1A1,A1A2,A1R,A2A2,A2R,RR		0.412,0.6329,0.4873				56,5,12457				SO:0001651	inframe_deletion	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414481_85414483delGCC	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"Homeoboxes / ANTP class : NKL subclass"	7839	protein-coding gene	gene with protein product		602563	"NK homeobox (Drosophila), family 6, A", "NK6 transcription factor related, locus 1 (Drosophila)"	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.1063_1065delGGC	4.37:g.85414490_85414492delGCC	ENSP00000295886:p.Gly355del					NKX6-1_ENST00000515820.2_In_Frame_Del_p.G81del	p.G355del	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	1284_1286	-		Hepatocellular(203;0.114)	355			Involved in DNA-binding (By similarity).|Poly-Gly.			In_Frame_Del	DEL	ENST00000295886.4	37	c.1063_1065delGGC	CCDS3607.1																																																																																				0.675	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		7	276						7	276	---	---	---	---	-	85414483	GCC	-	85414481	7	5	85	1	0	1	0	1	0	0	0	0	10499	1190	42	0	42	0	NKX6-1	4	85414481	In_Frame_Del	DEL	GCC	TCGA-IB-A5SQ-01A-11D-A32N-08	16418953	85414481	105739795	40	32774											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				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)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		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.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		15	463						15	463	---	---	---	---	-	106863684	CCA	-	106863682	7	5	85	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-IB-A5SQ-01A-11D-A32N-08	21449201	106863682	84290594	41	32775											
LARP1B	55132	broad.mit.edu	37	chr4	129127626	129127627	+	Frame_Shift_Ins	INS	-	-	A													gttttatagttatggactggINSaaaaaaaattcaggcgagaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:129127626_129127627insA	ENST00000326639.6	+	18	2564_2565	c.2353_2354insA	c.(2353-2355)gaafs	p.E785fs	LARP1B_ENST00000264584.5_Frame_Shift_Ins_p.E726fs|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Intron|LARP1B_ENST00000354456.3_Frame_Shift_Ins_p.E204fs	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	785						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						TTATGGACTGGAAAAAAAATTC	0.292																																						ENST00000326639.6																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						c.(2353-2355)aaafs		La ribonucleoprotein domain family, member 1B																																				SO:0001589	frameshift_variant	55132						RNA binding	g.chr4:129127626_129127627insA		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.2361dupA	4.37:g.129127634_129127634dupA	ENSP00000321997:p.Glu785fs					LARP1B_ENST00000354456.3_Frame_Shift_Ins_p.K204fs|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Frame_Shift_Ins_p.K726fs|LARP1B_ENST00000441387.1_Intron	p.K785fs	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN			18	2564_2565	+			785					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Frame_Shift_Ins	INS	ENST00000326639.6	37	c.2353_2354insA	CCDS3738.1																																																																																				0.292	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		8	582						8	582	---	---	---	---	A	129127627	-	A	129127626	7	5	85	1	0	1	1	0	0	0	0	0	8660	1175	41	0	2549	0	LARP1B	4	129127626	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	22263944	129127626	62026650	42	32776											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	399						7	399	---	---	---	---	-	146077125	CAG	-	146077123	7	5	85	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-IB-A5SQ-01A-11D-A32N-08	16949497	146077123	45077153	43	32777											
ARHGAP10	79658	broad.mit.edu	37	chr4	148944528	148944528	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagaaccaagaggcccGtggccgtctacaatctttgt	11	12	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:148944528G>A	ENST00000336498.3	+	19	2070	c.1831G>A	c.(1831-1833)Gtg>Atg	p.V611M	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CAAGAGGCCCGTGGCCGTCTA	0.502																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1831-1833)Gtg>Atg		Rho GTPase activating protein 10							96	99	98					4																	148944528		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148944528G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1831G>A	4.37:g.148944528G>A	ENSP00000336923:p.Val611Met					ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V260M	p.V611M	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	19	2070	+	all_hematologic(180;0.151)	Renal(17;0.0166)	611					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1831G>A	CCDS34075.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.18|15.18	2.755723|2.755723	0.49362|0.49362	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.11930	.|3.04;2.73	5.72|5.72	3.96|3.96	0.45880|0.45880	.|.	.|0.543718	.|0.18919	.|N	.|0.127533	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.40543|0.40543	1.245|1.245	0.36518|0.36518	D|D	0.869994|0.869994	.|D;D;D;D	.|0.89917	.|1.0;0.983;0.993;0.987	.|D;P;P;P	.|0.85130	.|0.997;0.507;0.475;0.475	T|T	0.07385|0.07385	-1.0775|-1.0775	5|10	.|0.46703	.|T	.|0.11	.|.	9.5873|9.5873	0.39524|0.39524	0.0749:0.2861:0.639:0.0|0.0749:0.2861:0.639:0.0	.|.	.|44;192;260;611	.|Q9H7G7;Q86T21;E7EUW5;A1A4S6	.|.;.;.;RHG10_HUMAN	H|M	288|611;260	.|ENSP00000336923:V611M;ENSP00000406624:V260M	.|ENSP00000336923:V611M	R|V	+|+	2|1	0|0	ARHGAP10|ARHGAP10	149163978|149163978	0.951000|0.951000	0.32395|0.32395	0.938000|0.938000	0.37757|0.37757	0.989000|0.989000	0.77384|0.77384	1.511000|1.511000	0.35801|0.35801	0.732000|0.732000	0.32470|0.32470	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.502	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		31	396	0	0	0	1	0	31	396					A	148944528	G	A	148944528	3	1	85	1	0	0	0	0	1	0	0	0	862	1145	40	1	1905	1	ARHGAP10	4	148944528	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2867405	148944528	42209748	44	32778											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del	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)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		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					SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		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)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	306						8	306	---	---	---	---	-	186544622	GGT	-	186544620	7	5	85	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-IB-A5SQ-01A-11D-A32N-08	37600092	186544620	4609656	45	32779											
RNASEN	29102	broad.mit.edu	37	chr5	31421389	31421389	+	Frame_Shift_Del	DEL	C	C	-													accaactcacagttaagtgtCcttcatgatgatctgggaaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:31421389delC	ENST00000511367.2	-	29	3759	c.3515delG	c.(3514-3516)ggafs	p.G1172fs	DROSHA_ENST00000513349.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000344624.3_Frame_Shift_Del_p.G1172fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.G1135fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1172	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				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						AGTTAAGTGTCCTTCATGATG	0.378																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3514-3516)gafs		drosha, ribonuclease type III							177	186	183					5																	31421389		1870	4095	5965	SO:0001589	frameshift_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31421389delC	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.3515delG	5.37:g.31421389delC	ENSP00000425979:p.Gly1172fs					DROSHA_ENST00000344624.3_Frame_Shift_Del_p.G1172fs|DROSHA_ENST00000513349.1_Frame_Shift_Del_p.G1135fs|DROSHA_ENST00000442743.1_Frame_Shift_Del_p.G1135fs	p.G1172fs	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			29	3759	-			1172			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Frame_Shift_Del	DEL	ENST00000511367.2	37	c.3515delG	CCDS47195.1																																																																																				0.378	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		53	591						53	591	---	---	---	---	-	31421389	C	-	31421389	7	5	85	1	0	1	0	1	0	0	0	0	13467	855	30	0	637	0	RNASEN	5	31421389	Frame_Shift_Del	DEL	C	TCGA-IB-A5SQ-01A-11D-A32N-08		31421389	149493871	46	32780											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	739						7	739	---	---	---	---	-	32090061	TCC	-	32090059	7	5	85	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-IB-A5SQ-01A-11D-A32N-08	668670	32090059	148825201	47	32781											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			10	1117						10	1117	---	---	---	---	-	79372776	TGA	-	79372774	7	5	85	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-A5SQ-01A-11D-A32N-08	47282715	79372774	101542486	48	32782											
SPOCK1	6695	broad.mit.edu	37	chr5	136476343	136476343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacacactttgtgagggctGcattttaccttcaggcaggg	11	10	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:136476343G>A	ENST00000394945.1	-	4	442	c.273C>T	c.(271-273)tgC>tgT	p.C91C	SPOCK1_ENST00000282223.7_Silent_p.C91C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	91					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)			TGTGAGGGCTGCATTTTACCT	0.567																																						ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(271-273)tgC>tgT		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1							68	55	59					5																	136476343		2203	4300	6503	SO:0001819	synonymous_variant	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136476343G>A	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.273C>T	5.37:g.136476343G>A						SPOCK1_ENST00000282223.7_Silent_p.C91C	p.C91C	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	442	-			91					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	ENST00000394945.1	37	c.273C>T	CCDS4191.1																																																																																				0.567	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		5	154	0	0	0	1	0	5	154					A	136476343	G	A	136476343	2	1	85	1	0	0	0	0	0	0	0	1	15131	1311	46	2		2	SPOCK1	5	136476343	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	57103569	136476343	44438917	49	32783											
TMCO6	55374	broad.mit.edu	37	chr5	140023774	140023774	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtatctaacgtggtgagcGtaatggtatgtattggggtt	14	4	1	1	rs373658685		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140023774G>A	ENST00000394671.3	+	10	1296	c.1195G>A	c.(1195-1197)Gta>Ata	p.V399I	TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	399					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)			CGTGGTGAGCGTAATGGTATG	0.483																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(1195-1197)Gta>Ata		transmembrane and coiled-coil domains 6		G	ILE/VAL	0,4000		0,0,2000	230	219	223		1195	-2.5	0.6	5		223	1,8365		0,1,4182	no	missense	TMCO6	NM_018502.3	29	0,1,6182	AA,AG,GG		0.012,0.0,0.0081	benign	399/494	140023774	1,12365	2000	4183	6183	SO:0001583	missense	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023774G>A	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1195G>A	5.37:g.140023774G>A	ENSP00000378166:p.Val399Ile					NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.V405I|TMCO6_ENST00000537378.1_Missense_Mutation_p.V159I	p.V399I	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1296	+			399					Q9BUU0|Q9P198	Missense_Mutation	SNP	ENST00000394671.3	37	c.1195G>A	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355472	0.24598	0.0	1.2E-4	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.62941	-0.01;-0.01;-0.01	5.66	-2.54	0.06307	Armadillo-like helical (1);Armadillo-type fold (1);	0.738080	0.12812	N	0.437062	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.24977	-1.0145	10	0.06625	T	0.88	1.034	3.6547	0.08217	0.4213:0.1005:0.3762:0.1019	.	405;399	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	I	399;159;405	ENSP00000378166:V399I;ENSP00000444474:V159I;ENSP00000252100:V405I	ENSP00000252100:V405I	V	+	1	0	TMCO6	140003958	0.001000	0.12720	0.606000	0.28943	0.959000	0.62525	-0.475000	0.06599	-0.410000	0.07542	-0.368000	0.07277	GTA		0.483	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		6	821	0	0	0	1	0	6	821					A	140023774	G	A	140023774	3	1	85	1	0	0	0	0	1	0	0	0	16052	1145	40	1	1233	1	TMCO6	5	140023774	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3547431	140023774	40891486	50	32784											
PCDHB2	56133	broad.mit.edu	37	chr5	140474590	140474590	+	Frame_Shift_Del	DEL	A	A	-													gccagggtcgtttccaaaggAaaaaaaatgcatttgcagtt							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:140474590delA	ENST00000194155.4	+	1	364	c.216delA	c.(214-216)ggafs	p.G72fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(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)			TTTCCAAAGGAAAAAAAATGC	0.522																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(214-216)ggfs						2,4262		1,0,2131	69	74	72			2.6	1	5		73	1,8253		0,1,4126	no	frameshift	PCDHB2	NM_018936.2		1,1,6257	A1A1,A1R,RR		0.0121,0.0469,0.024			140474590	3,12515	2203	4300	6503	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474590delA	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.216delA	5.37:g.140474590delA	ENSP00000194155:p.Gly72fs						p.G72fs	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	364	+			72			Cadherin 1.		Q4KMU1	Frame_Shift_Del	DEL	ENST00000194155.4	37	c.216delA	CCDS4244.1																																																																																				0.522	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		8	464						8	464	---	---	---	---	-	140474590	A	-	140474590	7	5	85	1	0	1	0	1	0	0	0	0	11584	233	9	0	218	0	PCDHB2	5	140474590	Frame_Shift_Del	DEL	A	TCGA-IB-A5SQ-01A-11D-A32N-08	450816	140474590	40440670	51	32785											
UNC5A	90249	broad.mit.edu	37	chr5	176301302	176301304	+	In_Frame_Del	DEL	CAC	CAC	-													accatccagccggacctcagCaccaccaccaccacctacca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176301302_176301304delCAC	ENST00000329542.4	+	8	1387_1389	c.1113_1115delCAC	c.(1111-1116)agcacc>agc	p.T376del	UNC5A_ENST00000261961.3_In_Frame_Del_p.T336del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	376					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			CGGACCTCAGCACCACCACCACC	0.645																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(1111-1116)agc>ag		unc-5 homolog A (C. elegans)																																				SO:0001651	inframe_deletion	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301302_176301304delCAC	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1113_1115delCAC	5.37:g.176301311_176301313delCAC	ENSP00000332737:p.Thr376del					UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del	p.ST371del	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1387_1389	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	371					B2RXE6|Q8TF26|Q96GP4	In_Frame_Del	DEL	ENST00000329542.4	37	c.1113_1115delCAC	CCDS34299.1																																																																																				0.645	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		9	755						9	755	---	---	---	---	-	176301304	CAC	-	176301302	7	5	85	1	0	1	0	1	0	0	0	0	17045	709	25	0	1143	0	UNC5A	5	176301302	In_Frame_Del	DEL	CAC	TCGA-IB-A5SQ-01A-11D-A32N-08	35826712	176301302	4613958	52	32786											
NSD1	64324	broad.mit.edu	37	chr5	176562809	176562809	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttagctcctcagactgaaacAcagaaaaataagcaaagaaa	6	8	1	4			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176562809A>G	ENST00000439151.2	+	2	750	c.705A>G	c.(703-705)acA>acG	p.T235T	NSD1_ENST00000511258.1_Intron|NSD1_ENST00000361032.4_Silent_p.T235T|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	235					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)		AGACTGAAACACAGAAAAATA	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(703-705)acA>acG		nuclear receptor binding SET domain protein 1							87	85	86					5																	176562809		2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562809A>G	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.705A>G	5.37:g.176562809A>G		HNSCC(47;0.14)				NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Silent_p.T235T	p.T235T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	750	+	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)	235					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.705A>G	CCDS4412.1																																																																																				0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		25	283	0	0	0	1	0	25	283					G	176562809	A	G	176562809	2	3	85	1	0	0	0	0	0	0	0	1	10711	146	6	4		4	NSD1	5	176562809	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	261507	176562809	4352451	53	32787											
DDX41	51428	broad.mit.edu	37	chr5	176941738	176941738	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgctctttcacggacatgCccccaatgcagagggcgcag	11	14	3	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:176941738C>T	ENST00000507955.1	-	9	1422	c.899G>A	c.(898-900)gGc>gAc	p.G300D	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	300	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACGGACATGCCCCCAATGCA	0.637																																						ENST00000507955.1																			0											c.(898-900)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							86	94	91					5																	176941738		2202	4298	6500	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176941738C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.899G>A	5.37:g.176941738C>T	ENSP00000422753:p.Gly300Asp						p.G300D	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		9	1422	-	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)	300			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.899G>A	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795543	0.90453	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.50548	0.74;0.74	5.74	4.85	0.62838	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.056454	0.64402	N	0.000001	T	0.76026	0.3930	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83210	-0.0074	10	0.87932	D	0	-27.0527	15.8993	0.79359	0.1364:0.8636:0.0:0.0	.	174;300	B3KRK2;Q9UJV9	.;DDX41_HUMAN	D	318;300	ENSP00000330349:G318D;ENSP00000422753:G300D	ENSP00000330349:G318D	G	-	2	0	DDX41	176874344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.351000	0.79395	1.378000	0.46305	0.655000	0.94253	GGC		0.637	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		7	899	0	0	0	1	0	7	899					T	176941738	C	T	176941738	3	4	85	1	0	0	0	0	1	0	0	0	4372	739	26	2	1005	2	DDX41	5	176941738	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	378929	176941738	3973522	54	32788											
FLT4	2324	broad.mit.edu	37	chr5	180056983	180056983	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggttggaaaggaagtcctgGtctccccaggtggtctcgca	15	10	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr5:180056983G>T	ENST00000261937.6	-	5	714	c.636C>A	c.(634-636)gaC>gaA	p.D212E	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D212E|FLT4_ENST00000393347.3_Missense_Mutation_p.D212E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	212	Ig-like C2-type 2.				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)	GGAAGTCCTGGTCTCCCCAGG	0.637																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(634-636)gaC>gaA		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						92	79	83					5																	180056983		2201	4297	6498	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056983G>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.636C>A	5.37:g.180056983G>T	ENSP00000261937:p.Asp212Glu					FLT4_ENST00000393347.3_Missense_Mutation_p.D212E|FLT4_ENST00000502649.1_Missense_Mutation_p.D212E|FLT4_ENST00000424276.2_5'UTR	p.D212E	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	714	-	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)	212			Ig-like C2-type 2.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.636C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047952	0.36085	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04654	3.58;3.58;3.58	5.06	4.17	0.49024	Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03783	0.0107	L	0.34521	1.04	0.28658	N	0.906316	B;P;B;B	0.35033	0.349;0.481;0.003;0.003	B;B;B;B	0.33454	0.05;0.164;0.004;0.004	T	0.27262	-1.0079	9	0.30078	T	0.28	.	3.8203	0.08833	0.09:0.1755:0.576:0.1585	.	212;212;212;212	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	E	212;212;212;22	ENSP00000261937:D212E;ENSP00000377016:D212E;ENSP00000426057:D212E	ENSP00000261937:D212E	D	-	3	2	FLT4	179989589	1.000000	0.71417	0.996000	0.52242	0.848000	0.48234	2.115000	0.41921	2.517000	0.84864	0.561000	0.74099	GAC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	286	1	0	1	1	1	5	286					T	180056983	G	T	180056983	3	4	85	1	0	0	0	0	1	0	0	0	5969	1252	44	3	3567	3	FLT4	5	180056983	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3115245	180056983	858277	55	32789											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234632	26234632	+	Frame_Shift_Del	DEL	T	T	-													ttggctgaggtgttttcaccTttttcgcactcttggccact							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:26234632delT	ENST00000244534.5	-	1	584	c.530delA	c.(529-531)aagfs	p.K177fs		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	177					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGTTTTCACCTTTTTCGCACT	0.537																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(529-531)agfs		histone cluster 1, H1d							110	114	113					6																	26234632		2203	4300	6503	SO:0001589	frameshift_variant	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234632delT	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.530delA	6.37:g.26234632delT	ENSP00000244534:p.Lys177fs						p.K177fs	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	584	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	177					B2R751|Q2M2I2	Frame_Shift_Del	DEL	ENST00000244534.5	37	c.530delA	CCDS4597.1																																																																																				0.537	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		7	879						7	879	---	---	---	---	-	26234632	T	-	26234632	7	5	85	1	0	1	0	1	0	0	0	0	7155	1609	56	0	139	0	HIST1H1D	6	26234632	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08		26234632	144880435	56	32790											
OR10C1	442194	broad.mit.edu	37	chr6	29408019	29408019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gattggctatacgtctgtcaCggtccccctgctacttcacc	8	15	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29408019C>T	ENST00000444197.2	+	1	937	c.227C>T	c.(226-228)aCg>aTg	p.T76M	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	76						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						ACGTCTGTCACGGTCCCCCTG	0.577																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(226-228)aCg>aTg		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							161	143	150					6																	29408019		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408019C>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"GPCR / Class A : Olfactory receptors"	8165	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily C, member 2", "olfactory receptor, family 10, subfamily C, member 1"	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.227C>T	6.37:g.29408019C>T	ENSP00000419119:p.Thr76Met					OR11A1_ENST00000377149.1_Intron	p.T76M	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	937	+			76					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.227C>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728727	0.15507	.	.	ENSG00000206474	ENST00000444197	T	0.00882	5.58	3.32	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001132	T	0.01940	0.0061	M	0.88570	2.965	0.09310	N	0.999996	D	0.69078	0.997	P	0.61722	0.893	T	0.38090	-0.9677	10	0.52906	T	0.07	.	6.6195	0.22796	0.0:0.8667:0.0:0.1333	.	76	Q96KK4	O10C1_HUMAN	M	76	ENSP00000419119:T76M	ENSP00000419119:T76M	T	+	2	0	OR10C1	29515998	0.000000	0.05858	0.287000	0.24848	0.043000	0.13939	-0.103000	0.10940	1.858000	0.53909	0.196000	0.17591	ACG		0.577	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			38	515	0	0	0	1	0	38	515					T	29408019	C	T	29408019	3	4	85	1	0	0	0	0	1	0	0	0	10940	536	19	1	229	1	OR10C1	6	29408019	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3173387	29408019	141707048	57	32791											
MAS1L	116511	broad.mit.edu	37	chr6	29454889	29454889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccgagatctgcaccaccGcatagaccctggtggccttt	12	14	1	2	rs145448286	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:29454889G>A	ENST00000377127.3	-	1	849	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	264					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						CTGCACCACCGCATAGACCCT	0.522																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(790-792)gCg>gTg		MAS1 oncogene-like		G	VAL/ALA	5,4401	9.9+/-24.2	0,5,2198	37	39	38		791	-3.7	0	6	dbSNP_134	38	0,8600		0,0,4300	yes	missense	MAS1L	NM_052967.1	64	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	264/379	29454889	5,13001	2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454889G>A	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.791C>T	6.37:g.29454889G>A	ENSP00000366331:p.Ala264Val						p.A264V	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	849	-			264					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.791C>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	G	2.332	-0.353156	0.05173	0.001135	0.0	ENSG00000204687	ENST00000377127	T	0.36340	1.26	2.23	-3.69	0.04450	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01592	0.0051	N	0.00510	-1.415	0.09310	N	1	B	0.25390	0.125	B	0.25291	0.059	T	0.32561	-0.9902	9	0.02654	T	1	.	3.4815	0.07603	0.5201:0.2028:0.2771:0.0	.	264	P35410	MAS1L_HUMAN	V	264	ENSP00000366331:A264V	ENSP00000366331:A264V	A	-	2	0	MAS1L	29562868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.366000	0.01078	-0.792000	0.04480	-0.451000	0.05528	GCG		0.522	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		4	216	0	0	0	1	0	4	216					A	29454889	G	A	29454889	3	1	85	1	0	0	0	0	1	0	0	0	9362	1087	38	1	347	1	MAS1L	6	29454889	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	46870	29454889	141660178	58	32792											
PRPH2	5961	broad.mit.edu	37	chr6	42689575	42689575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgaaaaccgttgttgccGcagcatttgaactcgatctg	9	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(496-498)tgC>tgT		peripherin 2 (retinal degeneration, slow)							149	136	140					6																	42689575		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689575G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.498C>T	6.37:g.42689575G>A							p.C166C	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	737	-	Colorectal(47;0.196)		166					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.498C>T	CCDS4871.1																																																																																				0.507	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		6	565	0	0	0	1	0	6	565					A	42689575	G	A	42689575	2	1	85	1	0	0	0	0	0	0	0	1	12624	1079	38	1		1	PRPH2	6	42689575	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	13234686	42689575	128425492	59	32793											
CAPN11	11131	broad.mit.edu	37	chr6	44144381	44144381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcacaagacggaggaCggggagttctggtcagtgtg	17	8	2	1	rs370482641		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:44144381C>T	ENST00000398776.1	+	10	1103	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	CAPN11_ENST00000542245.1_Silent_p.D355D	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	355	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGACGGAGGACGGGGAGTTCT	0.627																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1063-1065)gaC>gaT		calpain 11		C		0,4192		0,0,2096	94	110	104		1065	-5.4	0.6	6		104	1,8459		0,1,4229	no	coding-synonymous	CAPN11	NM_007058.3		0,1,6325	TT,TC,CC		0.0118,0.0,0.0079		355/740	44144381	1,12651	2096	4230	6326	SO:0001819	synonymous_variant	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144381C>T	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1065C>T	6.37:g.44144381C>T						CAPN11_ENST00000398776.1_Silent_p.D355D	p.D355D			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1103	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		355			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	ENST00000398776.1	37	c.1065C>T	CCDS47436.1																																																																																				0.627	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			28	319	0	0	0	1	0	28	319					T	44144381	C	T	44144381	2	4	85	1	0	0	0	0	0	0	0	1	2631	535	19	1		1	CAPN11	6	44144381	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1454806	44144381	126970686	60	32794											
TNFRSF21	27242	broad.mit.edu	37	chr6	47253929	47253929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgagcacactgcttacaccGcacatcctcagtctctgtcc	6	18	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:47253929G>A	ENST00000296861.2	-	2	892	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	167					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)			TGCTTACACCGCACATCCTCA	0.542																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(499-501)Cgg>Tgg		tumor necrosis factor receptor superfamily, member 21							313	226	255					6																	47253929		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47253929G>A	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.499C>T	6.37:g.47253929G>A	ENSP00000296861:p.Arg167Trp						p.R167W	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		2	892	-			167					B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.499C>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668949	0.67814	.	.	ENSG00000146072	ENST00000296861	T	0.61742	0.08	5.54	4.61	0.57282	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.164121	0.49305	D	0.000156	T	0.65154	0.2664	M	0.72894	2.215	0.47214	D	0.999353	D	0.89917	1.0	P	0.62649	0.905	T	0.68108	-0.5496	10	0.72032	D	0.01	.	12.0809	0.53669	0.0:0.0:0.6729:0.327	.	167	O75509	TNR21_HUMAN	W	167	ENSP00000296861:R167W	ENSP00000296861:R167W	R	-	1	2	TNFRSF21	47361888	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.334000	0.43920	2.767000	0.95098	0.591000	0.81541	CGG		0.542	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		8	622	0	0	0	1	0	8	622					A	47253929	G	A	47253929	3	1	85	1	0	0	0	0	1	0	0	0	16347	1086	38	1	1488	1	TNFRSF21	6	47253929	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3109548	47253929	123861138	61	32795											
C6orf174	387104	broad.mit.edu	37	chr6	127796643	127796643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttggccacgtagatgcgcGcctcggtgatgatggtgctc	15	11	0	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:127796643G>A	ENST00000525778.1	-	6	3273	c.2528C>T	c.(2527-2529)gCg>gTg	p.A843V	SOGA3_ENST00000481848.2_Missense_Mutation_p.A843V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000556132.1_Missense_Mutation_p.A843V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR			Q5TF21	SOGA3_HUMAN	SOGA family member 3	843					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A843V(1)									GTAGATGCGCGCCTCGGTGAT	0.652																																						ENST00000556132.1																			1	Substitution - Missense(1)	p.A843V(1)	large_intestine(1)								c.(2527-2529)gCg>gTg		SOGA family member 3							89	102	97					6																	127796643		2186	4281	6467	SO:0001583	missense	387104					integral to membrane		g.chr6:127796643G>A	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.2528C>T	6.37:g.127796643G>A	ENSP00000434570:p.Ala843Val					SOGA3_ENST00000368268.2_Missense_Mutation_p.A843V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A843V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A843V|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_Missense_Mutation_p.A843V	p.A843V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3392	-			843						Missense_Mutation	SNP	ENST00000525778.1	37	c.2528C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686804	0.88639	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	L	0.56769	1.78	0.80722	D	1	P	0.44006	0.824	B	0.38296	0.27	T	0.03706	-1.1011	10	0.42905	T	0.14	-14.9161	14.5446	0.68020	0.0701:0.0:0.9299:0.0	.	843	Q5TF21	CF174_HUMAN	V	843	ENSP00000451768:A843V;ENSP00000357251:A843V;ENSP00000434570:A843V;ENSP00000435559:A843V	ENSP00000435559:A843V	A	-	2	0	C6orf174	127838336	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	1.419000	0.47118	0.462000	0.41574	GCG		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		35	773	0	0	0	1	0	35	773					A	127796643	G	A	127796643	3	1	85	1	0	0	0	0	1	0	0	0	2352	1087	38	1	323	1	C6orf174	6	127796643	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	80542714	127796643	43318424	62	32796											
BCLAF1	9774	broad.mit.edu	37	chr6	136589449	136589449	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgctgaagaggatgaagatcGagaatgatcttgctctcttt	11	6	2	6	rs147719127		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:136589449G>A	ENST00000531224.1	-	10	2500	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	750	Poly-Ser.				apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R750G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			1	Substitution - Missense(1)	p.R750G(1)	urinary_tract(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(2248-2250)Cga>Tga		BCL2-associated transcription factor 1		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	101	87	92		2242,1729,2248	4.1	1	6	dbSNP_134	92	5,8595	2.2+/-6.3	0,5,4295	yes	stop-gained,stop-gained,stop-gained	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	,,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,,	748/870,577/748,750/921	136589449	5,13001	2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589449G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2248C>T	6.37:g.136589449G>A	ENSP00000435210:p.Arg750*					BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R577*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R750*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R748*|BCLAF1_ENST00000529917.1_5'UTR	p.R750*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2500	-	Colorectal(23;0.24)		750			Poly-Ser.		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.2248C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	42	9.204499	0.99099	0.0	5.81E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348	.	.	.	4.97	4.07	0.47477	.	0.000000	0.47852	D	0.000213	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7893	12.524	0.56075	0.0:0.0:0.612:0.388	.	.	.	.	X	750;748;750;577;748;748	.	ENSP00000229446:R748X	R	-	1	2	BCLAF1	136631142	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.833000	0.39161	1.190000	0.43042	0.484000	0.47621	CGA		0.338	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	248	0	0	0	1	0	9	248					A	136589449	G	A	136589449	4	1	85	1	0	0	0	0	0	1	0	0	1384	1066	37	1	530	1	BCLAF1	6	136589449	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	8792806	136589449	34525618	63	32797											
CCDC28A	25901	broad.mit.edu	37	chr6	139095001	139095001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggctgtcgggtctttgCgggttgcggaagggggcccc	19	10	1	1	rs200225836	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:139095001C>T	ENST00000332797.6	+	1	345	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	64										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CGGGTCTTTGCGGGTTGCGGA	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		13588	0.001		0.0	False		,,,				2504	0.001					ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(190-192)Cgg>Tgg		coiled-coil domain containing 28A							68	85	79					6																	139095001		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139095001C>T	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.190C>T	6.37:g.139095001C>T	ENSP00000332716:p.Arg64Trp						p.R64W	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	1	345	+			64					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.190C>T	CCDS5192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.28	2.487247	0.44249	.	.	ENSG00000024862	ENST00000332797	T	0.25579	1.79	4.93	3.15	0.36227	.	1.391920	0.05417	N	0.543593	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.08310	-1.0728	10	0.72032	D	0.01	-2.5804	7.0938	0.25299	0.0:0.8032:0.0:0.1968	.	64	Q8IWP9	CC28A_HUMAN	W	64	ENSP00000332716:R64W	ENSP00000332716:R64W	R	+	1	2	CCDC28A	139136694	0.000000	0.05858	0.006000	0.13384	0.596000	0.36781	0.095000	0.15127	1.450000	0.47717	-0.215000	0.12644	CGG		0.617	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		6	920	0	0	0	1	0	6	920					T	139095001	C	T	139095001	3	4	85	1	0	0	0	0	1	0	0	0	2809	759	27	1	192	1	CCDC28A	6	139095001	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2505552	139095001	32020066	64	32798											
GRM1	2911	broad.mit.edu	37	chr6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-													agggcttgccccctcctctcCagcagcagcagcaaccccct							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.66	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		8	905						8	905	---	---	---	---	-	146755401	CAG	-	146755399	7	5	85	1	0	1	0	1	0	0	0	0	6826	595	21	0	3147	0	GRM1	6	146755399	In_Frame_Del	DEL	CAG	TCGA-IB-A5SQ-01A-11D-A32N-08	7660398	146755399	24359668	65	32799											
DNAH11	8701	broad.mit.edu	37	chr7	21882220	21882220	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agaactttcgccttatccttCacacaaaattggcaaatcct	4	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:21882220C>G	ENST00000409508.3	+	66	10781	c.10750C>G	c.(10750-10752)Cac>Gac	p.H3584D	DNAH11_ENST00000328843.6_Missense_Mutation_p.H3591D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3591	AAA 5. {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						CCTTATCCTTCACACAAAATT	0.413									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10771-10773)Cac>Gac		dynein, axonemal, heavy chain 11							109	103	105					7																	21882220		1890	4113	6003	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21882220C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10750C>G	7.37:g.21882220C>G	ENSP00000475939:p.His3584Asp					DNAH11_ENST00000409508.3_Missense_Mutation_p.H3584D	p.H3591D			Q96DT5	DYH11_HUMAN			67	10802	+			3591			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10771C>G		.	.	.	.	.	.	.	.	.	.	C	17.85	3.490687	0.64074	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53634	-0.8411	9	0.52906	T	0.07	.	17.8716	0.88813	0.0:1.0:0.0:0.0	.	3591	Q96DT5	DYH11_HUMAN	D	3591	ENSP00000330671:H3591D	ENSP00000330671:H3591D	H	+	1	0	DNAH11	21848745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.514000	0.84764	0.655000	0.94253	CAC		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		12	179	0	0	0	1	0	12	179					G	21882220	C	G	21882220	3	3	85	1	0	0	0	0	1	0	0	0	4615	826	29	5	11034	5	DNAH11	7	21882220	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		21882220	137256443	66	32800											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			9	1020	0	0	0	1	0	9	1020					G	72398976	A	G	72398976	3	3	85	1	0	0	0	0	1	0	0	0	12281	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	50516756	72398976	86739687	67	32801											
TAF6	6878	broad.mit.edu	37	chr7	99705124	99705124	+	Frame_Shift_Del	DEL	G	G	-													ggaccagagggagcagtgctGgggggtgcggtggtggcggt							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:99705124delG	ENST00000344095.4	-	15	2304	c.1779delC	c.(1777-1779)cccfs	p.P593fs	TAF6_ENST00000453269.2_Frame_Shift_Del_p.P593fs|TAF6_ENST00000452041.1_Frame_Shift_Del_p.P593fs|TAF6_ENST00000437822.2_Frame_Shift_Del_p.P630fs|TAF6_ENST00000418432.2_Frame_Shift_Del_p.P517fs|TAF6_ENST00000472509.1_Frame_Shift_Del_p.P650fs|AP4M1_ENST00000421755.1_Intron	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	593					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCAGTGCTGGGGGGTGCGG	0.657																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1777-1779)ccfs		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							98	99	99					7																	99705124		2203	4300	6503	SO:0001589	frameshift_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99705124delG		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1779delC	7.37:g.99705124delG	ENSP00000344537:p.Pro593fs					TAF6_ENST00000453269.2_Frame_Shift_Del_p.P593fs|TAF6_ENST00000437822.2_Frame_Shift_Del_p.P630fs|TAF6_ENST00000452041.1_Frame_Shift_Del_p.P593fs|TAF6_ENST00000418432.2_Frame_Shift_Del_p.P517fs|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Frame_Shift_Del_p.P650fs	p.P593fs	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN			15	2304	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		593					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Frame_Shift_Del	DEL	ENST00000344095.4	37	c.1779delC	CCDS5686.1																																																																																				0.657	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		7	1002						7	1002	---	---	---	---	-	99705124	G	-	99705124	7	5	85	1	0	1	0	1	0	0	0	0	15582	1335	47	0	258	0	TAF6	7	99705124	Frame_Shift_Del	DEL	G	TCGA-IB-A5SQ-01A-11D-A32N-08	27306148	99705124	59433539	68	32802											
FLNC	2318	broad.mit.edu	37	chr7	128482291	128482294	+	Frame_Shift_Del	DEL	GACG	GACG	-													ggtgatgcccacaggacgccGacggctgtcccatcgacatc					rs370035829		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:128482291_128482294delGACG	ENST00000325888.8	+	14	2389_2392	c.2128_2131delGACG	c.(2128-2133)gacggcfs	p.DG710fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	710					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						ACAGGACGCCGACGGCTGTCCCAT	0.623											OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2128-2133)gcfs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482291_128482294delGACG	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.2128_2131delGACG	7.37:g.128482291_128482294delGACG	ENSP00000327145:p.Asp710fs		OREG0018297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	FLNC_ENST00000346177.6_Frame_Shift_Del_p.DG710fs	p.DG710fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			14	2389_2392	+			710					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	ENST00000325888.8	37	c.2128_2131delGACG	CCDS43644.1																																																																																				0.623	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			10	167						10	167	---	---	---	---	-	128482294	GACG	-	128482291	7	5	85	1	0	1	0	1	0	0	0	0	5960	1058	37	0	2182	0	FLNC	7	128482291	Frame_Shift_Del	DEL	GACG	TCGA-IB-A5SQ-01A-11D-A32N-08	28777167	128482291	30656372	69	32803											
CLCN1	1180	broad.mit.edu	37	chr7	143029823	143029823	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctctcccagttgatgCcccgcgaagccatcagtact	7	16	3	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:143029823C>T	ENST00000343257.2	+	12	1345	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	420					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)					CCAGTTGATGCCCCGCGAAGC	0.522																																						ENST00000343257.2																			0				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						c.(1258-1260)Ccc>Tcc		chloride channel, voltage-sensitive 1							166	159	161					7																	143029823		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143029823C>T	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.1258C>T	7.37:g.143029823C>T	ENSP00000339867:p.Pro420Ser						p.P420S	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			12	1345	+	Melanoma(164;0.205)		420					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1258C>T	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500391	0.64298	.	.	ENSG00000188037	ENST00000343257	D	0.92595	-3.07	5.36	5.36	0.76844	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.31476	0.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.75484	0.986	D	0.90724	0.4637	10	0.20519	T	0.43	.	19.4395	0.94813	0.0:1.0:0.0:0.0	.	420	P35523	CLCN1_HUMAN	S	420	ENSP00000339867:P420S	ENSP00000339867:P420S	P	+	1	0	CLCN1	142739945	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.769000	0.85360	2.683000	0.91414	0.643000	0.83706	CCC		0.522	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		6	954	0	0	0	1	0	6	954					T	143029823	C	T	143029823	3	4	85	1	0	0	0	0	1	0	0	0	3471	739	26	2	1304	2	CLCN1	7	143029823	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	14547532	143029823	16108840	70	32804											
EPHA1	2041	broad.mit.edu	37	chr7	143096794	143096794	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagccaggctcacagtggCaccgtcctacaggcaccagc	10	16	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr7:143096794C>T	ENST00000275815.3	-	4	871	c.785G>A	c.(784-786)tGc>tAc	p.C262Y		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	262	Cys-rich.				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)				CTCACAGTGGCACCGTCCTAC	0.652																																						ENST00000275815.3																			0				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						c.(784-786)tGc>tAc		EPH receptor A1							41	45	44					7																	143096794		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096794C>T	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.785G>A	7.37:g.143096794C>T	ENSP00000275815:p.Cys262Tyr						p.C262Y	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	871	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	262			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.785G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877639	0.72294	.	.	ENSG00000146904	ENST00000275815	D	0.86627	-2.15	5.22	4.33	0.51752	Tyrosine-protein kinase, receptor class V, conserved site (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000003	D	0.92652	0.7665	M	0.93978	3.48	0.49213	D	0.999766	D	0.58970	0.984	P	0.51550	0.673	D	0.94170	0.7422	10	0.87932	D	0	.	13.6352	0.62219	0.0:0.926:0.0:0.074	.	262	P21709	EPHA1_HUMAN	Y	262	ENSP00000275815:C262Y	ENSP00000275815:C262Y	C	-	2	0	EPHA1	142806916	1.000000	0.71417	0.986000	0.45419	0.907000	0.53573	7.518000	0.81795	1.409000	0.46915	0.655000	0.94253	TGC		0.652	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			35	400	0	0	0	1	0	35	400					T	143096794	C	T	143096794	3	4	85	1	0	0	0	0	1	0	0	0	5183	710	25	2	2205	2	EPHA1	7	143096794	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	66971	143096794	16041869	71	32805											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885063	88885063	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggacagccatgagcagcccTggtgctcctcggaagccccc	12	17	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:88885063T>C	ENST00000319675.3	-	1	1233	c.1137A>G	c.(1135-1137)ccA>ccG	p.P379P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	379										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						TGAGCAGCCCTGGTGCTCCTC	0.562																																						ENST00000319675.3																			0				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						c.(1135-1137)ccA>ccG		DDB1 and CUL4 associated factor 4-like 2							49	55	53					8																	88885063		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885063T>C	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.1137A>G	8.37:g.88885063T>C							p.P379P	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1233	-			379						Silent	SNP	ENST00000319675.3	37	c.1137A>G	CCDS6245.1																																																																																				0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		50	323	0	0	0	1	0	50	323					C	88885063	T	C	88885063	2	2	85	1	0	0	0	0	0	0	0	1	4283	1567	55	4		4	DCAF4L2	8	88885063	Silent	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08		88885063	57478959	72	32806											
FAM135B	51059	broad.mit.edu	37	chr8	139165382	139165382	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctatttaccatacagttatCttccttgtctttcagattca	4	10	4	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:139165382C>T	ENST00000395297.1	-	13	1506	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	446										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)			ATACAGTTATCTTCCTTGTCT	0.328										HNSCC(54;0.14)																												ENST00000395297.1																			0				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						c.(1336-1338)Gat>Aat		family with sequence similarity 135, member B							58	56	57					8																	139165382		1853	4090	5943	SO:0001583	missense	51059							g.chr8:139165382C>T	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.1336G>A	8.37:g.139165382C>T	ENSP00000378710:p.Asp446Asn	HNSCC(54;0.14)					p.D446N	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	1506	-	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)		446					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1336G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	2.542	-0.306135	0.05458	.	.	ENSG00000147724	ENST00000395297	T	0.13778	2.56	5.6	3.44	0.39384	.	2.006110	0.01697	N	0.026948	T	0.10895	0.0266	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.257;0.157;0.094	B;B;B	0.26864	0.074;0.051;0.023	T	0.28427	-1.0044	10	0.17369	T	0.5	-5.0172	10.0861	0.42419	0.0:0.8112:0.0:0.1888	.	446;446;446	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	N	446	ENSP00000378710:D446N	ENSP00000276737:D446N	D	-	1	0	FAM135B	139234564	0.831000	0.29352	0.867000	0.34043	0.006000	0.05464	2.266000	0.43320	1.348000	0.45733	0.655000	0.94253	GAT		0.328	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		20	227	0	0	0	1	0	20	227					T	139165382	C	T	139165382	3	4	85	1	0	0	0	0	1	0	0	0	5470	913	32	2	2916	2	FAM135B	8	139165382	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	50280319	139165382	7198640	73	32807											
PLEC	5339	broad.mit.edu	37	chr8	144996470	144996470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctcctgctcgatgaagcGctcccgctgtagcaggctgt	11	14	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr8:144996470G>A	ENST00000322810.4	-	32	8099	c.7930C>T	c.(7930-7932)Cgc>Tgc	p.R2644C	PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2644	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						TCGATGAAGCGCTCCCGCTGT	0.627																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7930-7932)Cgc>Tgc		plectin							20	22	21					8																	144996470		2164	4254	6418	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996470G>A	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.7930C>T	8.37:g.144996470G>A	ENSP00000323856:p.Arg2644Cys					PLEC_ENST00000398774.2_Missense_Mutation_p.R2475C|PLEC_ENST00000354958.2_Missense_Mutation_p.R2485C|PLEC_ENST00000345136.3_Missense_Mutation_p.R2507C|PLEC_ENST00000527096.1_Missense_Mutation_p.R2530C|PLEC_ENST00000354589.3_Missense_Mutation_p.R2507C|PLEC_ENST00000357649.2_Missense_Mutation_p.R2511C|PLEC_ENST00000436759.2_Missense_Mutation_p.R2534C|PLEC_ENST00000356346.3_Missense_Mutation_p.R2493C	p.R2644C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	8099	-			2644			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7930C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	10.43	1.349012	0.24426	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78595	-1.16;-1.16;-1.19;-1.19;-1.17;-1.16;-1.15;-1.16;-1.16	4.38	4.38	0.52667	.	0.100263	0.38720	U	0.001592	T	0.68979	0.3060	L	0.40543	1.245	0.50039	D	0.999843	D;D;D;D;D;D;D;D	0.60160	0.987;0.987;0.987;0.978;0.987;0.987;0.987;0.987	B;B;B;B;B;B;B;B	0.42882	0.401;0.401;0.401;0.226;0.401;0.401;0.401;0.401	T	0.73697	-0.3901	10	0.87932	D	0	.	10.1728	0.42920	0.0:0.0:0.6587:0.3413	.	2534;2493;2485;2644;2475;2507;2511;2507	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	2507;2511;2507;2475;2644;2485;2493;2534;2530	ENSP00000344848:R2507C;ENSP00000350277:R2511C;ENSP00000346602:R2507C;ENSP00000381756:R2475C;ENSP00000323856:R2644C;ENSP00000347044:R2485C;ENSP00000348702:R2493C;ENSP00000388180:R2534C;ENSP00000434583:R2530C	ENSP00000323856:R2644C	R	-	1	0	PLEC	145068458	0.964000	0.33143	0.950000	0.38849	0.712000	0.41017	2.523000	0.45580	2.289000	0.77006	0.443000	0.29094	CGC		0.627	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		23	190	0	0	0	1	0	23	190					A	144996470	G	A	144996470	3	1	85	1	0	0	0	0	1	0	0	0	12094	1087	38	1	6128	1	PLEC	8	144996470	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	5831088	144996470	1367552	74	32808											
SMARCA2	6595	broad.mit.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	10	14	0	0	rs376509101|rs62639301	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000349721.2_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10	13	12					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	119	0	0	0	1	0	4	119					A	2039779	G	A	2039779	2	1	85	1	0	0	0	0	0	0	0	1	14819	962	34	2		2	SMARCA2	9	2039779	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		2039779	139173652	75	32809											
TRPM6	140803	broad.mit.edu	37	chr9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagattttatgccatgtccGcacaacctcaggaagaaagg	10	9	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				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						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147	146	146					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	725	0	0	0	1	0	6	725					A	77354692	G	A	77354692	3	1	85	1	0	0	0	0	1	0	0	0	16643	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	75314913	77354692	63858739	76	32810											
CEL	1056	broad.mit.edu	37	chr9	135940495	135940495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatggggtccggccatgggGccaacttcctcaacaactac	10	14	2	0	rs562551668		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:135940495G>A	ENST00000372080.4	+	4	434	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	CEL_ENST00000351304.7_Missense_Mutation_p.A137T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	137					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)		CGGCCATGGGGCCAACTTCCT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17461	0.0		0.0	False		,,,				2504	0.001					ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(418-420)Gcc>Acc		carboxyl ester lipase							143	155	151					9																	135940495		2050	4179	6229	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135940495G>A	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.418G>A	9.37:g.135940495G>A	ENSP00000361151:p.Ala140Thr					CEL_ENST00000351304.7_Missense_Mutation_p.A137T	p.A140T	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	4	434	+			137					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.418G>A	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166069	0.57476	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72725	-0.47;-0.68	5.16	4.25	0.50352	Carboxylesterase, type B (1);	0.202192	0.51477	D	0.000085	T	0.67144	0.2862	L	0.46741	1.465	0.58432	D	0.999992	P	0.47350	0.894	P	0.44597	0.454	T	0.67937	-0.5541	10	0.45353	T	0.12	.	13.986	0.64337	0.0:0.0:0.8473:0.1527	.	137	P19835	CEL_HUMAN	T	140;137;140	ENSP00000361151:A140T;ENSP00000342217:A137T	ENSP00000304021:A140T	A	+	1	0	CEL	134930316	1.000000	0.71417	0.676000	0.29932	0.366000	0.29705	4.416000	0.59815	1.130000	0.42092	0.561000	0.74099	GCC		0.612	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			9	1668	0	0	0	1	0	9	1668					A	135940495	G	A	135940495	3	1	85	1	0	0	0	0	1	0	0	0	3218	1203	42	2	432	2	CEL	9	135940495	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	58585803	135940495	5272936	77	32811											
DBH	1621	broad.mit.edu	37	chr9	136508639	136508639	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccacttcagcgggccctgCgactccaagatgaaacccga	9	17	1	2	rs78200745		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:136508639C>T	ENST00000393056.2	+	4	861	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	283					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GCGGGCCCTGCGACTCCAAGA	0.662																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(847-849)tgC>tgT		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)	C		0,4406		0,0,2203	63	64	64		849	-4.6	0.9	9	dbSNP_131	64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DBH	NM_000787.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		283/618	136508639	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508639C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.849C>T	9.37:g.136508639C>T							p.C283C	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	861	+			283					Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.849C>T	CCDS6977.2																																																																																				0.662	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		5	479	0	0	0	1	0	5	479					T	136508639	C	T	136508639	2	4	85	1	0	0	0	0	0	0	0	1	4261	776	27	1		1	DBH	9	136508639	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	568144	136508639	4704792	78	32812											
COL5A1	1289	broad.mit.edu	37	chr9	137693829	137693829	+	Frame_Shift_Del	DEL	C	C	-													ggcaagaccggccctccaggCccccccggcgtggtcggccc					rs377265020		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:137693829delC	ENST00000371817.3	+	38	3396	c.2982delC	c.(2980-2982)ggcfs	p.G994fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	994	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)	p.G997fs*17(1)		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)		GCCCTCCAGGCCCCCCCGGCG	0.657																																						ENST00000371817.3																			1	Insertion - Frameshift(1)	p.G997fs*17(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2980-2982)ggfs		collagen, type V, alpha 1							67	67	67					9																	137693829		2203	4299	6502	SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137693829delC	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.2982delC	9.37:g.137693829delC	ENSP00000360882:p.Gly994fs						p.G994fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	38	3396	+		Myeloproliferative disorder(178;0.0341)	994			Triple-helical region.		Q15094|Q5SUX4	Frame_Shift_Del	DEL	ENST00000371817.3	37	c.2982delC	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		9	682						9	682	---	---	---	---	-	137693829	C	-	137693829	7	5	85	1	0	1	0	1	0	0	0	0	3705	726	26	0	3132	0	COL5A1	9	137693829	Frame_Shift_Del	DEL	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1185190	137693829	3519602	79	32813											
SEC16A	9919	broad.mit.edu	37	chr9	139360502	139360502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaattgctgcggtaggtgccGtaggcaaaatcgccgtgaaa	13	8	0	1	rs368855876		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:139360502G>A	ENST00000371706.3	-	6	3714	c.3681C>T	c.(3679-3681)taC>taT	p.Y1227Y	SEC16A_ENST00000431893.2_Silent_p.Y1227Y|SEC16A_ENST00000290037.6_Silent_p.Y1227Y|SEC16A_ENST00000313050.7_Silent_p.Y1405Y			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1227	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)		GGTAGGTGCCGTAGGCAAAAT	0.577																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4213-4215)taC>taT		SEC16 homolog A (S. cerevisiae)		G		0,4064		0,0,2032	53	65	61		4215	-0.3	0.1	9		61	2,8408		0,2,4203	no	coding-synonymous	SEC16A	NM_014866.1		0,2,6235	AA,AG,GG		0.0238,0.0,0.016		1405/2358	139360502	2,12472	2032	4205	6237	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139360502G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3681C>T	9.37:g.139360502G>A						SEC16A_ENST00000431893.2_Silent_p.Y1227Y|SEC16A_ENST00000371706.3_Silent_p.Y1227Y|SEC16A_ENST00000290037.6_Silent_p.Y1227Y	p.Y1405Y	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	6	4288	-		Myeloproliferative disorder(178;0.0511)	1227					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.4215C>T		.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839346	0.02692	0.0	2.38E-4	ENSG00000148396	ENST00000433860	.	.	.	5.76	-0.351	0.12602	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51028	-0.8757	4	.	.	.	-24.8088	9.9193	0.41455	0.5084:0.0:0.4916:0.0	.	.	.	.	W	102	.	.	R	-	1	2	SEC16A	138480323	0.021000	0.18746	0.099000	0.21106	0.012000	0.07955	-0.799000	0.04560	0.080000	0.16959	-0.136000	0.14681	CGG		0.577	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		5	557	0	0	0	1	0	5	557					A	139360502	G	A	139360502	2	1	85	1	0	0	0	0	0	0	0	1	14036	1140	40	1		1	SEC16A	9	139360502	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	1666673	139360502	1852929	80	32814											
EXD3	54932	broad.mit.edu	37	chr9	140267462	140267462	+	Frame_Shift_Del	DEL	G	G	-													gccagtggtgccgcaaggctGggggggctctcagtgaggac					rs200027265		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr9:140267462delG	ENST00000340951.4	-	5	552	c.357delC	c.(355-357)cccfs	p.P119fs	EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0	Pro-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCGCAAGGCTGGGGGGGCTCT	0.647																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(355-357)ccfs		exonuclease 3'-5' domain containing 3																																				SO:0001589	frameshift_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140267462delG		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.357delC	9.37:g.140267462delG	ENSP00000340474:p.Pro119fs					EXD3_ENST00000342129.4_5'UTR|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000479452.1_Frame_Shift_Del_p.P119fs	p.P119fs	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			5	552	-			119					Q6P1M1|Q8IXT8	Frame_Shift_Del	DEL	ENST00000340951.4	37	c.357delC	CCDS48066.1																																																																																				0.647	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		7	646						7	646	---	---	---	---	-	140267462	G	-	140267462	7	5	85	1	0	1	0	1	0	0	0	0	5317	1335	47	0	2345	0	EXD3	9	140267462	Frame_Shift_Del	DEL	G	TCGA-IB-A5SQ-01A-11D-A32N-08	906960	140267462	945969	81	32815											
PARD3	56288	broad.mit.edu	37	chr10	34671501	34671501	+	Frame_Shift_Del	DEL	T	T	-													gatattaagcctcttgcctaTttttttggtgttataaccac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:34671501delT	ENST00000374789.3	-	9	1691	c.1366delA	c.(1366-1368)atafs	p.I456fs	PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	456					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)				CTCTTGCCTATTTTTTTGGTG	0.433																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1366-1368)tafs		par-3 family cell polarity regulator							119	117	118					10																	34671501		2203	4300	6503	SO:0001589	frameshift_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671501delT	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.1366delA	10.37:g.34671501delT	ENSP00000363921:p.Ile456fs					PARD3_ENST00000374773.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374776.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545693.1_Frame_Shift_Del_p.I456fs|PARD3_ENST00000346874.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000545260.1_Frame_Shift_Del_p.I412fs|PARD3_ENST00000340077.5_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374788.3_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374790.3_Frame_Shift_Del_p.I412fs|PARD3_ENST00000544292.1_Frame_Shift_Del_p.I186fs|PARD3_ENST00000350537.4_Frame_Shift_Del_p.I456fs|PARD3_ENST00000374794.3_Frame_Shift_Del_p.I412fs	p.I456fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			9	1691	-		Breast(68;0.0707)	456					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Del	DEL	ENST00000374789.3	37	c.1366delA	CCDS7178.1																																																																																				0.433	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		9	635						9	635	---	---	---	---	-	34671501	T	-	34671501	7	5	85	1	0	1	0	1	0	0	0	0	11485	1493	52	0	2807	0	PARD3	10	34671501	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08		34671501	100863246	82	32816											
AGAP8	119016	broad.mit.edu	37	chr10	51225503	51225503	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcatccagctccagagatcgCacacgggaaaggcgggtgcc	13	13	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:51225503C>G	ENST00000425119.2	-	7	1604	c.1479G>C	c.(1477-1479)gtG>gtC	p.V493V	AGAP8_ENST00000602930.1_Silent_p.V477V	NM_001077686.1|NM_001276344.1	NP_001071154.1|NP_001263273.1	Q5SRD3	AGAP8_HUMAN		493	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)			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CCAGAGATCGCACACGGGAAA	0.532																																						ENST00000602930.1																			0				breast(1)|endometrium(1)|lung(2)|ovary(2)	6						c.(1429-1431)gtG>gtC		ArfGAP with GTPase domain, ankyrin repeat and PH domain 8							77	81	79					10																	51225503		2189	4258	6447	SO:0001819	synonymous_variant	728404				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51225503C>G																												ENST00000425119.2:c.1479G>C	10.37:g.51225503C>G						AGAP8_ENST00000425119.2_Silent_p.V493V	p.V477V	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN			9	1980	-			493			Arf-GAP.			Silent	SNP	ENST00000425119.2	37	c.1431G>C	CCDS41522.1																																																																																				0.532	AGAP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048022.2			5	823	0	0	0	1	0	5	823					G	51225503	C	G	51225503	2	3	85	1	0	0	0	0	0	0	0	1	374	697	25	5		5	AGAP8	10	51225503	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	16554002	51225503	84309244	83	32817											
RTKN2	219790	broad.mit.edu	37	chr10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T													ctgcccatttgtctcttcaaINStttttttttgtattatatcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		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)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	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.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	308						7	308	---	---	---	---	T	63958149	-	T	63958148	7	5	85	1	0	1	1	0	0	0	0	0	13773	101	4	0	484	0	RTKN2	10	63958148	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	12732645	63958148	71576599	84	32818											
PLAU	414236	broad.mit.edu	37	chr10	75673298	75673298	+	Intron	DEL	A	A	-													ccctctgtttgtcctccaggAaaaaagccctcctctcctcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000372764.3_Splice_Site_p.G154fs|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	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																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156	188	177					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		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						PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		8	1699						8	1699	---	---	---	---	-	75673298	A	-	75673298	6	5	85	0	1	1	0	1	0	0	0	0	12064	260	9	0		0	PLAU	10	75673298	Intron	DEL	A	TCGA-IB-A5SQ-01A-11D-A32N-08	11715150	75673298	59861449	85	32819											
PSD	5662	broad.mit.edu	37	chr10	104164422	104164422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctgggaaggggggcGcagagaacatagcggctact	17	9	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:104164422G>A	ENST00000020673.5	-	15	3144	c.2618C>T	c.(2617-2619)gCg>gTg	p.A873V	PSD_ENST00000406432.1_Missense_Mutation_p.A873V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	873					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)		GAAGGGGGGCGCAGAGAACAT	0.622																																						ENST00000020673.5																			0				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						c.(2617-2619)gCg>gTg		pleckstrin and Sec7 domain containing							120	127	124					10																	104164422		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104164422G>A	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.2618C>T	10.37:g.104164422G>A	ENSP00000020673:p.Ala873Val					PSD_ENST00000406432.1_Missense_Mutation_p.A873V	p.A873V	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	15	3144	-			873					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2618C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293816	0.95546	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.23147	1.92;1.92	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.97;0.97;0.991	T	0.57219	-0.7849	10	0.87932	D	0	.	18.6116	0.91286	0.0:0.0:1.0:0.0	.	873;776;494	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	V	873;776;873	ENSP00000020673:A873V;ENSP00000384830:A873V	ENSP00000020673:A873V	A	-	2	0	PSD	104154412	1.000000	0.71417	0.993000	0.49108	0.884000	0.51177	9.630000	0.98420	2.627000	0.88993	0.555000	0.69702	GCG		0.622	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			7	1154	0	0	0	1	0	7	1154					A	104164422	G	A	104164422	3	1	85	1	0	0	0	0	1	0	0	0	12693	1087	38	1	468	1	PSD	10	104164422	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	28491124	104164422	31370325	86	32820											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362124	105362124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccccgggaggtttggAggggatggggggcgtggcct	22	8	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr10:105362124A>G	ENST00000369774.4	-	15	3127	c.2851T>C	c.(2851-2853)Tcc>Ccc	p.S951P	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	951					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)		GGAGGTTTGGAGGGGATGGGG	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2851-2853)Tcc>Ccc		SH3 and PX domains 2A							74	69	71					10																	105362124		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362124A>G	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.2851T>C	10.37:g.105362124A>G	ENSP00000358789:p.Ser951Pro					SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S818P|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S786P|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S923P	p.S951P			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	3127	-		Colorectal(252;0.0815)|Breast(234;0.131)	951					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2851T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.20|14.20	2.463860|2.463860	0.43736|0.43736	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.61510	.|0.19;0.12;0.3;0.1	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.174508	.|0.52532	.|D	.|0.000077	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.59436|0.59436	1.845|1.845	0.53005|0.53005	D|D	0.999963|0.999963	.|P;P;P;P	.|0.47253	.|0.828;0.828;0.859;0.892	.|B;B;P;B	.|0.46026	.|0.237;0.42;0.501;0.319	T|T	0.54622|0.54622	-0.8266|-0.8266	5|10	.|0.30078	.|T	.|0.28	-14.3613|-14.3613	9.8768|9.8768	0.41209|0.41209	0.8072:0.0:0.0:0.1928|0.8072:0.0:0.0:0.1928	.|.	.|951;800;796;923	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	P|P	877|951;923;758;866;818;786	.|ENSP00000358789:S951P;ENSP00000348215:S923P;ENSP00000443663:S818P;ENSP00000441514:S786P	.|ENSP00000318135:S758P	L|S	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352114|105352114	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.444000|0.444000	0.32077|0.32077	5.893000|5.893000	0.69798|0.69798	1.892000|1.892000	0.54788|0.54788	0.454000|0.454000	0.30748|0.30748	CTC|TCC		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	481	0	0	0	1	0	5	481					G	105362124	A	G	105362124	3	3	85	1	0	0	0	0	1	0	0	0	14306	304	11	4	554	4	SH3PXD2A	10	105362124	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	1197702	105362124	30172623	87	32821											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606326	1606326	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggttggcacacggcagcacaCgggcttgcagcagcagacgg	16	12	0	1	rs374671309		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:1606326C>T	ENST00000382171.2	-	1	187	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	52	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)		CGGCAGCACACGGGCTTGCAG	0.682																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(154-156)Gtg>Atg		keratin associated protein 5-1							81	96	91					11																	1606326		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1606326C>T	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.154G>A	11.37:g.1606326C>T	ENSP00000371606:p.Val52Met					KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.V52M	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	187	-		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)	52			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.154G>A	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	7.346	0.621923	0.14193	.	.	ENSG00000205869	ENST00000382171	T	0.06933	3.24	3.41	3.41	0.39046	.	.	.	.	.	T	0.20251	0.0487	L	0.49571	1.57	0.23430	N	0.997696	D	0.76494	0.999	D	0.68353	0.957	T	0.02646	-1.1129	9	0.56958	D	0.05	.	10.1785	0.42952	0.0:1.0:0.0:0.0	.	52	Q6L8H4	KRA51_HUMAN	M	52	ENSP00000371606:V52M	ENSP00000371606:V52M	V	-	1	0	KRTAP5-1	1562902	0.583000	0.26757	0.949000	0.38748	0.083000	0.17756	1.052000	0.30429	1.728000	0.51552	0.455000	0.32223	GTG		0.682	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		8	1103	0	0	0	1	0	8	1103					T	1606326	C	T	1606326	3	4	85	1	0	0	0	0	1	0	0	0	8589	536	19	1	686	1	KRTAP5-1	11	1606326	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		1606326	133400190	88	32822											
OR5F1	338674	broad.mit.edu	37	chr11	55761879	55761879	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catctttggggtgatggtagTtgagttacaaacgtccacaa	11	7	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:55761879T>G	ENST00000278409.1	-	1	222	c.223A>C	c.(223-225)Act>Cct	p.T75P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGATGGTAGTTGAGTTACAA	0.443																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(223-225)Act>Cct		olfactory receptor, family 5, subfamily F, member 1							64	61	62					11																	55761879		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761879T>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"GPCR / Class A : Olfactory receptors"	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.223A>C	11.37:g.55761879T>G	ENSP00000278409:p.Thr75Pro						p.T75P	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	222	-	Esophageal squamous(21;0.00448)		75					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.223A>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	9.452	1.090942	0.20471	.	.	ENSG00000149133	ENST00000278409	T	0.00402	7.56	3.03	0.33	0.15929	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	M	0.79926	2.475	0.09310	N	1	B	0.34226	0.443	B	0.32465	0.146	T	0.34900	-0.9810	9	0.87932	D	0	.	7.279	0.26300	0.4403:0.0:0.0:0.5596	.	75	O95221	OR5F1_HUMAN	P	75	ENSP00000278409:T75P	ENSP00000278409:T75P	T	-	1	0	OR5F1	55518455	0.006000	0.16342	0.036000	0.18154	0.077000	0.17291	0.070000	0.14573	-0.198000	0.10333	0.247000	0.18012	ACT		0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		34	294	0	0	0	1	0	34	294					G	55761879	T	G	55761879	3	3	85	1	0	0	0	0	1	0	0	0	11200	1725	60	4	724	4	OR5F1	11	55761879	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	54155553	55761879	79244637	89	32823											
FTH1	2495	broad.mit.edu	37	chr11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-													ccagtagtgactgattcacaTttttttccaaatgtaatgca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)aatfs	p.N110fs	AP003733.1_ENST00000601917.1_5'Flank|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529191.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	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)	CTGATTCACATTTTTTTCCAA	0.423																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(328-330)atfs		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						193	185	188					11																	61732517		1894	4106	6000	SO:0001589	frameshift_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732517delT		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.329delA	11.37:g.61732517delT	ENSP00000273550:p.Asn110fs					FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	p.N110fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			3	563	-			110			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Frame_Shift_Del	DEL	ENST00000273550.7	37	c.329delA	CCDS41655.1																																																																																				0.423	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		7	1113						7	1113	---	---	---	---	-	61732517	T	-	61732517	7	5	85	1	0	1	0	1	0	0	0	0	6109	1493	52	0	230	0	FTH1	11	61732517	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08	5970638	61732517	73273999	90	32824											
SYTL2	54843	broad.mit.edu	37	chr11	85468696	85468696	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctcttcttcggccctcttcaGagcagcatcccgctgcaaaa	7	16	4	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:85468696G>A	ENST00000528231.1	-	1	350	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L|SYTL2_ENST00000316356.4_Silent_p.L25L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	25	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		GCCCTCTTCAGAGCAGCATCC	0.478																																						ENST00000316356.4																			0				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						c.(73-75)Ctg>Ttg		synaptotagmin-like 2							240	243	242					11																	85468696		2203	4299	6502	SO:0001819	synonymous_variant	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85468696G>A	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.73C>T	11.37:g.85468696G>A						SYTL2_ENST00000528231.1_Silent_p.L25L|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Silent_p.L25L|SYTL2_ENST00000389960.4_Silent_p.L25L	p.L25L			Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	2	637	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	25			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	ENST00000528231.1	37	c.73C>T	CCDS53688.1																																																																																				0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		114	1322	0	0	0	1	0	114	1322					A	85468696	G	A	85468696	2	1	85	1	0	0	0	0	0	0	0	1	15535	933	33	2		2	SYTL2	11	85468696	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	23736179	85468696	49537820	91	32825											
RDX	5962	broad.mit.edu	37	chr11	110108327	110108327	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcttcttcttttgctcGttttcgttcttgatccagtt	6	10	4	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr11:110108327G>A	ENST00000343115.4	-	11	1460	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	381	Glu-rich.				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)		TCTTTTGCTCGTTTTCGTTCT	0.428																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1141-1143)Cga>Tga		radixin							181	172	175					11																	110108327		2201	4298	6499	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110108327G>A	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.1141C>T	11.37:g.110108327G>A	ENSP00000342830:p.Arg381*					RDX_ENST00000528498.1_Nonsense_Mutation_p.R381*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R245*|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.R381*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R34*	p.R381*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		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)	11	1460	-		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)	381			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.1141C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	41	8.898136	0.98994	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	4.84	0.62591	.	0.354723	0.25230	N	0.032165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	14.7001	0.69150	0.0:0.0:0.7205:0.2795	.	.	.	.	X	381;381;34;381;245;51	.	ENSP00000342830:R381X	R	-	1	2	RDX	109613537	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.566000	0.36396	1.364000	0.46038	0.650000	0.86243	CGA		0.428	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		34	422	0	0	0	1	0	34	422					A	110108327	G	A	110108327	4	1	85	1	0	0	0	0	0	1	0	0	13248	1153	40	1	626	1	RDX	11	110108327	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	24639631	110108327	24898189	92	32826											
GPR162	27239	broad.mit.edu	37	chr12	6933844	6933844	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtcctcgctggatggctcGgagtctgccaagacatccct	12	14	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:6933844G>A	ENST00000311268.3	+	2	1567	c.780G>A	c.(778-780)tcG>tcA	p.S260S	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	260						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						TGGATGGCTCGGAGTCTGCCA	0.622																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(778-780)tcG>tcA		G protein-coupled receptor 162							54	55	54					12																	6933844		2203	4300	6503	SO:0001819	synonymous_variant	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933844G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"GPCR / Class A : Orphans"	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.780G>A	12.37:g.6933844G>A						GPR162_ENST00000428545.2_Intron|GPR162_ENST00000382315.3_Intron	p.S260S	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1567	+			260					Q16664|Q59EH5|Q66K56	Silent	SNP	ENST00000311268.3	37	c.780G>A	CCDS8563.1																																																																																				0.622	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		24	346	0	0	0	1	0	24	346					A	6933844	G	A	6933844	2	1	85	1	0	0	0	0	0	0	0	1	6695	1103	39	1		1	GPR162	12	6933844	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		6933844	126918051	93	32827											
CD163	9332	broad.mit.edu	37	chr12	7635290	7635290	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agtcaagaagaataatgcgaCgaaaatggccaacagaacaa	9	7	1	3	rs139478533	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:7635290C>A	ENST00000359156.4	-	14	3398	c.3196G>T	c.(3196-3198)Gtc>Ttc	p.V1066F	CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.V1054F	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																																						ENST00000359156.4																			1	Substitution - Missense(1)	p.V1066I(1)	lung(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						c.(3196-3198)Gtc>Ttc		CD163 molecule							130	138	135					12																	7635290		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635290C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3196G>T	12.37:g.7635290C>A	ENSP00000352071:p.Val1066Phe					CD163_ENST00000432237.2_Missense_Mutation_p.V1066F|CD163_ENST00000396620.3_Missense_Mutation_p.V1099F|CD163_ENST00000541972.1_Missense_Mutation_p.V1054F	p.V1066F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3398	-			1066					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3196G>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064039	0.20067	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01446	4.88;4.91;4.91;4.91	4.32	-0.639	0.11497	.	1.150940	0.06616	N	0.756554	T	0.01592	0.0051	N	0.08118	0	0.09310	N	1	P;P;P	0.37573	0.532;0.6;0.532	B;B;B	0.41860	0.185;0.368;0.185	T	0.51371	-0.8714	10	0.72032	D	0.01	.	7.6763	0.28488	0.0:0.3086:0.0:0.6914	.	1099;1066;1066	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	F	1066;1054;1099;1066	ENSP00000352071:V1066F;ENSP00000444071:V1054F;ENSP00000379863:V1099F;ENSP00000403885:V1066F	ENSP00000352071:V1066F	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		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		43	482	1	0	3.43241e-23	1	3.69025e-23	43	482					A	7635290	C	A	7635290	3	1	85	1	0	0	0	0	1	0	0	0	2976	536	19	3	286	3	CD163	12	7635290	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	701446	7635290	126216605	94	32828											
TAS2R50	259296	broad.mit.edu	37	chr12	11138881	11138881	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagattagcatcagaaaagaTatcagggacagagtaaaggg	12	5	2	4			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:11138881T>C	ENST00000506868.1	-	1	630	c.579A>G	c.(577-579)atA>atG	p.I193M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	193					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						TCAGAAAAGATATCAGGGACA	0.408																																						ENST00000506868.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(577-579)atA>atG		taste receptor, type 2, member 50							131	120	124					12																	11138881		2203	4300	6503	SO:0001583	missense	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11138881T>C	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.579A>G	12.37:g.11138881T>C	ENSP00000424040:p.Ile193Met					PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.I193M	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	630	-			193					P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	c.579A>G	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770932	0.31320	.	.	ENSG00000212126	ENST00000506868	T	0.41065	1.01	2.19	-2.61	0.06171	.	2.272960	0.03713	U	0.250636	T	0.47432	0.1445	M	0.80028	2.48	0.09310	N	1	P	0.38535	0.635	B	0.42361	0.385	T	0.48980	-0.8986	10	0.72032	D	0.01	.	3.8053	0.08774	0.1852:0.0:0.3371:0.4777	.	193	P59544	T2R50_HUMAN	M	193	ENSP00000424040:I193M	ENSP00000424040:I193M	I	-	3	3	TAS2R50	11030148	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-0.609000	0.05635	-0.349000	0.08274	0.260000	0.18958	ATA		0.408	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		30	456	0	0	0	1	0	30	456					C	11138881	T	C	11138881	3	2	85	1	0	0	0	0	1	0	0	0	15636	1396	49	4	324	4	TAS2R50	12	11138881	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	3503591	11138881	122713014	95	32829											
GRIN2B	2904	broad.mit.edu	37	chr12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagccatgttcttggccGtgcgcagcaggcgcaggatg	16	10	1	0	rs552036402		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0					ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2710-2712)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						155	142	146					12																	13717461		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717461G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met						p.T904M	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2920	-			904					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2711C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			8	931	0	0	0	1	0	8	931					A	13717461	G	A	13717461	3	1	85	1	0	0	0	0	1	0	0	0	6810	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	2578580	13717461	120134434	96	32830											
SLCO1B3	28234	broad.mit.edu	37	chr12	21015401	21015401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcttcatggggaatatGcttcgtggcataggggaaac	13	6	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:21015401G>A	ENST00000381545.3	+	7	756	c.537G>A	c.(535-537)atG>atA	p.M179I	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	179					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)	TGGGGAATATGCTTCGTGGCA	0.378																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(535-537)atG>atA		solute carrier organic anion transporter family, member 1B3							178	174	175					12																	21015401		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21015401G>A		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.537G>A	12.37:g.21015401G>A	ENSP00000370956:p.Met179Ile					SLCO1B3_ENST00000553473.1_Missense_Mutation_p.M179I|LST3_ENST00000540229.1_Missense_Mutation_p.M179I|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.M179I|SLCO1B7_ENST00000554957.1_Intron	p.M179I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			7	756	+	Esophageal squamous(101;0.149)		179					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.537G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114546	0.06881	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.79141	0.46;0.46;0.46;0.46;-1.24;0.46	3.9	2.92	0.33932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.346611	0.35124	N	0.003433	T	0.52964	0.1767	N	0.11000	0.08	0.80722	D	1	B;B;B	0.28933	0.228;0.007;0.007	B;B;B	0.30316	0.114;0.028;0.028	T	0.44205	-0.9343	10	0.17832	T	0.49	.	5.0501	0.14503	0.0946:0.1553:0.6118:0.1383	.	179;179;179	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	179;179;179;179;3;179	ENSP00000442000:M179I;ENSP00000261196:M179I;ENSP00000370956:M179I;ENSP00000451758:M179I;ENSP00000443225:M3I;ENSP00000441269:M179I	ENSP00000441269:M179I	M	+	3	0	SLCO1B3;RP11-545J16.1	20906668	0.979000	0.34478	1.000000	0.80357	0.081000	0.17604	0.414000	0.21164	1.732000	0.51606	0.460000	0.39030	ATG		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		26	474	0	0	0	1	0	26	474					A	21015401	G	A	21015401	3	1	85	1	0	0	0	0	1	0	0	0	14774	1319	46	2	555	2	SLCO1B3	12	21015401	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	7297940	21015401	112836494	97	32831											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000550629.1_5'Flank	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-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						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	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.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	476						8	476	---	---	---	---	-	46318577	GGT	-	46318575	7	5	85	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-IB-A5SQ-01A-11D-A32N-08	25303174	46318575	87533320	98	32832											
KRT80	144501	broad.mit.edu	37	chr12	52566851	52566851	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagaggatctgggaccGcagcttctggatgcgcacat	14	10	2	1	rs183742007	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:52566851G>A	ENST00000394815.2	-	6	1025	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	KRT80_ENST00000313234.5_Missense_Mutation_p.R310W	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	310	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ATCTGGGACCGCAGCTTCTGG	0.637													g|||	2	0.000399361	0.0	0.0	5008	,	,		17689	0.002		0.0	False		,,,				2504	0.0				GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(928-930)Cgg>Tgg		keratin 80		T	TRP/ARG,TRP/ARG	0,4406		0,0,2203	51	50	50		928,928	1.2	0.3	12		50	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	KRT80	NM_001081492.1,NM_182507.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	310/423,310/453	52566851	1,13005	2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52566851G>A	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.928C>T	12.37:g.52566851G>A	ENSP00000378292:p.Arg310Trp					KRT80_ENST00000394815.2_Missense_Mutation_p.R310W	p.R310W	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1025	-			310			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.928C>T	CCDS8821.2	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	14.10	2.434757	0.43224	0.0	1.16E-4	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89270	-2.49;-2.49	4.39	1.24	0.21308	Filament (1);	0.000000	0.34725	N	0.003726	D	0.93726	0.7995	M	0.80422	2.495	0.19300	N	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.984;0.991;0.998	D	0.88202	0.2884	10	0.87932	D	0	.	14.4952	0.67683	0.0:0.0:0.5428:0.4572	.	310;310;345	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	W	310	ENSP00000369361:R310W;ENSP00000378292:R310W	ENSP00000369361:R310W	R	-	1	2	KRT80	50853118	0.000000	0.05858	0.287000	0.24848	0.492000	0.33523	0.185000	0.16958	0.577000	0.29470	-0.217000	0.12591	CGG		0.637	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		6	325	0	0	0	1	0	6	325					A	52566851	G	A	52566851	3	1	85	1	0	0	0	0	1	0	0	0	8524	1086	38	1	481	1	KRT80	12	52566851	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	6248276	52566851	81285044	99	32833											
KRT73	319101	broad.mit.edu	37	chr12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-													gttgcacttttatctcatggTttttttggtgggtgagctta							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					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)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239	258	252			2	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	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.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		7	1065						7	1065	---	---	---	---	-	53001991	T	-	53001991	7	5	85	1	0	1	0	1	0	0	0	0	8516	1725	60	0	14	0	KRT73	12	53001991	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08	435140	53001991	80849904	100	32834											
TARBP2	8620	broad.mit.edu	37	chr12	53898955	53898955	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattggcaaagcggaatgCggcggccaaaatgctgcttc	12	9	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:53898955C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000266987.2_Missense_Mutation_p.A217V	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						AAGCGGAATGCGGCGGCCAAA	0.572																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(649-651)gCg>gTg		TAR (HIV-1) RNA binding protein 2							129	118	122					12																	53898955		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898955C>T	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		12.37:g.53898955C>T						TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V	p.A217V	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			7	1133	+			217			DRBM 2.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.650C>T	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224601	0.95139	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.92495	-3.05;-3.05;-3.05	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97636	1.0145	10	0.87932	D	0	-16.1595	17.5584	0.87900	0.0:1.0:0.0:0.0	.	217	Q15633	TRBP2_HUMAN	V	217;196;196	ENSP00000266987:A217V;ENSP00000416077:A196V;ENSP00000377885:A196V	ENSP00000266987:A217V	A	+	2	0	TARBP2	52185222	0.999000	0.42202	0.518000	0.27811	0.879000	0.50718	4.317000	0.59184	2.759000	0.94783	0.561000	0.74099	GCG		0.572	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		5	618	0	0	0	1	0	5	618					T	53898955	C	T	53898955	1	4	85	0	1	0	0	0	0	0	0	0	15608	768	27	1		1	TARBP2	12	53898955	IGR	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	896964	53898955	79952940	101	32835											
GPR84	53831	broad.mit.edu	37	chr12	54756512	54756512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catatgcttggcggaattggCggttcatggctgcatagagc	14	8	1	1	rs546291952	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:54756512C>T	ENST00000551809.1	-	1	1759	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	GPR84_ENST00000267015.3_Missense_Mutation_p.R375H|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	375						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCGGAATTGGCGGTTCATGGC	0.542													C|||	35	0.00698882	0.0	0.0	5008	,	,		16255	0.0		0.0	False		,,,				2504	0.0358					ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1123-1125)cGc>cAc		G protein-coupled receptor 84							153	174	167					12																	54756512		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756512C>T	AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1124G>A	12.37:g.54756512C>T	ENSP00000450310:p.Arg375His					GPR84_ENST00000267015.3_Missense_Mutation_p.R375H|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.R375H			Q9NQS5	GPR84_HUMAN			1	1759	-			375					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.1124G>A	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317270	0.81469	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.39592	1.07;1.07	5.43	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.49779	0.1577	M	0.77406	2.37	0.53688	D	0.999971	D	0.64830	0.994	P	0.47528	0.549	T	0.54715	-0.8252	10	0.42905	T	0.14	-7.4502	12.1512	0.54051	0.0:0.9163:0.0:0.0837	.	375	Q9NQS5	GPR84_HUMAN	H	375	ENSP00000267015:R375H;ENSP00000450310:R375H	ENSP00000267015:R375H	R	-	2	0	GPR84	53042779	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.314000	0.65804	1.437000	0.47472	0.655000	0.94253	CGC		0.542	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	1316	0	0	0	1	0	7	1316					T	54756512	C	T	54756512	3	4	85	1	0	0	0	0	1	0	0	0	6743	768	27	1	70	1	GPR84	12	54756512	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	857557	54756512	79095383	102	32836											
DUSP6	1848	broad.mit.edu	37	chr12	89745479	89745479	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgagcagcagcccgagcaccGactcgccgcccgtattctcg	11	17	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:89745479G>T	ENST00000279488.7	-	1	1569	c.338C>A	c.(337-339)tCg>tAg	p.S113*	DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	113	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						CCCGAGCACCGACTCGCCGCC	0.682																																					Colon(132;3456 5224)	ENST00000279488.7																			0				large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						c.(337-339)tCg>tAg		dual specificity phosphatase 6							10	10	10					12																	89745479		2160	4241	6401	SO:0001587	stop_gained	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745479G>T	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.338C>A	12.37:g.89745479G>T	ENSP00000279488:p.Ser113*					DUSP6_ENST00000308385.6_Nonsense_Mutation_p.S113*	p.S113*	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN			1	1569	-			113			Rhodanese.		O75109|Q53Y75|Q9BSH6	Nonsense_Mutation	SNP	ENST00000279488.7	37	c.338C>A	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	G	46	12.912705	0.99705	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6644	0.88200	0.0:0.0:1.0:0.0	.	.	.	.	X	113	.	ENSP00000279488:S113X	S	-	2	0	DUSP6	88269610	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	9.616000	0.98359	2.646000	0.89796	0.655000	0.94253	TCG		0.682	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		4	76	1	0	0.00909568	1	0.00921642	4	76					T	89745479	G	T	89745479	4	4	85	1	0	0	0	0	0	1	0	0	4845	1059	37	3	819	3	DUSP6	12	89745479	Nonsense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	34988967	89745479	44106416	103	32837											
CCDC60	160777	broad.mit.edu	37	chr12	119909828	119909828	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtctgtgaagataggccGtggatattttgctattctga	11	7	2	3	rs144740799	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:119909828G>A	ENST00000327554.2	+	3	665	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	67										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)		AAGATAGGCCGTGGATATTTT	0.468													G|||	4	0.000798722	0.0	0.0	5008	,	,		19701	0.0		0.001	False		,,,				2504	0.0031					ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(199-201)cGt>cAt		coiled-coil domain containing 60		G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	98	95	96		200	2	0.5	12	dbSNP_134	96	17,8583	12.6+/-44.7	0,17,4283	yes	missense	CCDC60	NM_178499.3	29	0,21,6482	AA,AG,GG		0.1977,0.0908,0.1615	probably-damaging	67/551	119909828	21,12985	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119909828G>A	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.200G>A	12.37:g.119909828G>A	ENSP00000333374:p.Arg67His					RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	p.R67H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	665	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		67						Missense_Mutation	SNP	ENST00000327554.2	37	c.200G>A	CCDS9190.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.93	1.490322	0.26686	9.08E-4	0.001977	ENSG00000183273	ENST00000327554	T	0.25912	1.77	5.22	2.0	0.26442	.	0.253027	0.26556	N	0.023712	T	0.39279	0.1072	M	0.68317	2.08	0.39642	D	0.970335	D	0.76494	0.999	D	0.64687	0.928	T	0.20107	-1.0285	9	.	.	.	-12.1971	5.4573	0.16598	0.399:0.0:0.601:0.0	.	67	Q8IWA6	CCD60_HUMAN	H	67	ENSP00000333374:R67H	.	R	+	2	0	CCDC60	118394211	0.438000	0.25602	0.512000	0.27736	0.025000	0.11179	0.906000	0.28517	0.593000	0.29745	-1.175000	0.01729	CGT		0.468	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		21	399	0	0	0	1	0	21	399					A	119909828	G	A	119909828	3	1	85	1	0	0	0	0	1	0	0	0	2838	1145	40	1	210	1	CCDC60	12	119909828	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	30164349	119909828	13942067	104	32838											
GCN1L1	10985	broad.mit.edu	37	chr12	120602186	120602186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctccaagagtccgtgcGccagcttaaagcccccaaga	9	16	0	2	rs375873694		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr12:120602186G>A	ENST00000300648.6	-	18	1814	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	601					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)					GAGTCCGTGCGCCAGCTTAAA	0.612																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(1801-1803)gCg>gTg		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		G	VAL/ALA	0,3930		0,0,1965	87	91	90		1802	5.8	1	12		90	1,8319		0,1,4159	no	missense	GCN1L1	NM_006836.1	64	0,1,6124	AA,AG,GG		0.012,0.0,0.0082	benign	601/2672	120602186	1,12249	1965	4160	6125	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120602186G>A	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.1802C>T	12.37:g.120602186G>A	ENSP00000300648:p.Ala601Val						p.A601V	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			18	1814	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		601					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.1802C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713573	0.68730	0.0	1.2E-4	ENSG00000089154	ENST00000300648	T	0.04654	3.58	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.052807	0.85682	D	0.000000	T	0.05640	0.0148	L	0.49455	1.56	0.80722	D	1	B	0.29766	0.256	B	0.25291	0.059	T	0.39187	-0.9626	10	0.12103	T	0.63	.	13.3273	0.60467	0.0717:0.0:0.9283:0.0	.	601	Q92616	GCN1L_HUMAN	V	601	ENSP00000300648:A601V	ENSP00000300648:A601V	A	-	2	0	GCN1L1	119086569	1.000000	0.71417	0.965000	0.40720	0.937000	0.57800	7.375000	0.79646	2.769000	0.95229	0.655000	0.94253	GCG		0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	639	0	0	0	1	0	6	639					A	120602186	G	A	120602186	3	1	85	1	0	0	0	0	1	0	0	0	6327	1087	38	1	6377	1	GCN1L1	12	120602186	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	692358	120602186	13249709	105	32839											
ATP12A	479	broad.mit.edu	37	chr13	25262530	25262530	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctcacccctcccaagcagaCgcctgagatcgtcaagttcc	7	18	2	2	rs146927457	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr13:25262530C>A	ENST00000381946.3	+	4	469	c.302C>A	c.(301-303)aCg>aAg	p.T101K	ATP12A_ENST00000218548.6_Missense_Mutation_p.T101K			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	101					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCCAAGCAGACGCCTGAGATC	0.587																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(301-303)aCg>aAg		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						203	212	209					13																	25262530		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25262530C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.302C>A	13.37:g.25262530C>A	ENSP00000371372:p.Thr101Lys					ATP12A_ENST00000381946.3_Missense_Mutation_p.T101K	p.T101K	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	4	635	+		Lung SC(185;0.0225)|Breast(139;0.077)	101					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.302C>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097218	0.76870	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.77489	-1.1;-1.1	5.06	5.06	0.68205	ATPase, P-type cation-transporter, N-terminal (2);	0.151867	0.45606	D	0.000357	T	0.82226	0.4991	M	0.64404	1.975	0.80722	D	1	D;D	0.55172	0.957;0.97	P;P	0.52758	0.708;0.473	D	0.83710	0.0187	10	0.56958	D	0.05	.	15.9701	0.80008	0.0:1.0:0.0:0.0	.	101;101	P54707-2;P54707	.;AT12A_HUMAN	K	101	ENSP00000218548:T101K;ENSP00000371372:T101K	ENSP00000218548:T101K	T	+	2	0	ATP12A	24160530	1.000000	0.71417	0.801000	0.32222	0.716000	0.41182	5.692000	0.68256	2.624000	0.88883	0.655000	0.94253	ACG		0.587	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		122	1579	1	0	3.28156e-27	1	3.5615e-27	122	1579					A	25262530	C	A	25262530	3	1	85	1	0	0	0	0	1	0	0	0	1123	536	19	3	316	3	ATP12A	13	25262530	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		25262530	89907348	106	32840											
CTAGE5	4253	broad.mit.edu	37	chr14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T													ttggattttttgctgttctcINSttttttttgtggagaagttt					rs75842899|rs78536283	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					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)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	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.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		8	307						8	307	---	---	---	---	T	39746243	-	T	39746242	7	5	85	1	0	1	1	0	0	0	0	0	4005	900	32	0	205	0	CTAGE5	14	39746242	Frame_Shift_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08		39746242	67603298	107	32841											
TTC9	23508	broad.mit.edu	37	chr14	71134284	71134284	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctcccttcctccatagcctGcctgctccaggctgagctgg	9	18	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:71134284G>T	ENST00000256367.2	+	2	753	c.410G>T	c.(409-411)tGc>tTc	p.C137F		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	137										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCCATAGCCTGCCTGCTCCAG	0.512																																						ENST00000256367.2																			0				skin(1)	1						c.(409-411)tGc>tTc		tetratricopeptide repeat domain 9							47	47	47					14																	71134284		1967	4178	6145	SO:0001583	missense	23508						binding	g.chr14:71134284G>T	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"Tetratricopeptide (TTC) repeat domain containing"	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.410G>T	14.37:g.71134284G>T	ENSP00000256367:p.Cys137Phe						p.C137F	NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	2	753	+			137					Q86WT2	Missense_Mutation	SNP	ENST00000256367.2	37	c.410G>T	CCDS45132.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400773	0.62177	.	.	ENSG00000133985	ENST00000256367	T	0.17691	2.26	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.068925	0.64402	D	0.000014	T	0.51686	0.1689	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62353	-0.6872	10	0.87932	D	0	-15.8465	18.5279	0.90980	0.0:0.0:1.0:0.0	.	137	Q92623	TTC9A_HUMAN	F	137	ENSP00000256367:C137F	ENSP00000256367:C137F	C	+	2	0	TTC9	70204037	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.243000	0.95416	2.596000	0.87737	0.655000	0.94253	TGC		0.512	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1	XM_027236		11	193	1	0	0.000978159	1	0.000999993	11	193					T	71134284	G	T	71134284	3	4	85	1	0	0	0	0	1	0	0	0	16769	1319	46	3	416	3	TTC9	14	71134284	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	31388042	71134284	36215256	108	32842											
FAM181A	90050	broad.mit.edu	37	chr14	94394668	94394668	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagatgctgctgaacTtcgtgaacctggcgtccagc	12	10	0	4			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:94394668T>G	ENST00000267594.5	+	3	530	c.223T>G	c.(223-225)Ttc>Gtc	p.F75V	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	75										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTGCTGAACTTCGTGAACCT	0.607																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(223-225)Ttc>Gtc		family with sequence similarity 181, member A							83	74	77					14																	94394668		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94394668T>G	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.223T>G	14.37:g.94394668T>G	ENSP00000267594:p.Phe75Val					FAM181A_ENST00000556222.1_Missense_Mutation_p.F13V|FAM181A_ENST00000557000.2_Missense_Mutation_p.F13V|FAM181A_ENST00000557719.1_Missense_Mutation_p.F13V	p.F75V	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	530	+			75					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.223T>G	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550636	0.86127	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000019	T	0.81559	0.4848	M	0.64404	1.975	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	D	0.83842	0.0258	10	0.87932	D	0	-15.2697	14.0621	0.64806	0.0:0.0:0.0:1.0	.	75	Q8N9Y4	F181A_HUMAN	V	13;75;13;13;64	ENSP00000451802:F13V;ENSP00000267594:F75V;ENSP00000451678:F13V;ENSP00000452393:F13V	ENSP00000267594:F75V	F	+	1	0	FAM181A	93464421	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	8.018000	0.88722	1.733000	0.51620	0.260000	0.18958	TTC		0.607	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		16	329	0	0	0	1	0	16	329					G	94394668	T	G	94394668	3	3	85	1	0	0	0	0	1	0	0	0	5529	1609	56	4	229	4	FAM181A	14	94394668	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	23260384	94394668	12954872	109	32843											
KIAA0284	283638	broad.mit.edu	37	chr14	105353866	105353866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgggaggagcagagccGtagctcagccagctcccaga	14	14	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr14:105353866G>A	ENST00000414716.3	+	12	3518	c.3290G>A	c.(3289-3291)cGt>cAt	p.R1097H	CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000453495.1_Missense_Mutation_p.R1098H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1097						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GAGCAGAGCCGTAGCTCAGCC	0.726																																						ENST00000453495.1																			0											c.(3292-3294)cGt>cAt		centrosomal protein 170B							10	14	13					14																	105353866		1925	4091	6016	SO:0001583	missense	283638							g.chr14:105353866G>A	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3290G>A	14.37:g.105353866G>A	ENSP00000404151:p.Arg1097His					CEP170B_ENST00000556508.1_Missense_Mutation_p.R1027H|CEP170B_ENST00000414716.3_Missense_Mutation_p.R1097H|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1027H	p.R1098H							12	3521	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.3293G>A	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	8.639	0.895486	0.17613	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.34	4.34	0.51931	.	0.481200	0.20494	N	0.091239	T	0.36082	0.0954	M	0.63428	1.95	0.35035	D	0.759172	B;B;B	0.28667	0.143;0.027;0.219	B;B;B	0.21360	0.034;0.007;0.034	T	0.52223	-0.8604	10	0.66056	D	0.02	-15.6478	6.6379	0.22893	0.1748:0.0:0.8252:0.0	.	1097;1097;1027	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	H	1027;1097;1098;1027	ENSP00000451249:R1027H;ENSP00000404151:R1097H;ENSP00000407238:R1098H;ENSP00000415006:R1027H	ENSP00000404151:R1097H	R	+	2	0	KIAA0284	104424911	1.000000	0.71417	0.524000	0.27887	0.032000	0.12392	3.850000	0.55918	1.961000	0.56991	0.423000	0.28283	CGT		0.726	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		4	150	0	0	0	1	0	4	150					A	105353866	G	A	105353866	3	1	85	1	0	0	0	0	1	0	0	0	8196	1145	40	1	3332	1	KIAA0284	14	105353866	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	10959198	105353866	1995674	110	32844											
RYR3	6263	broad.mit.edu	37	chr15	33795853	33795853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattcctccagatctctgcGtctgcaattttgtgctggaa	8	11	2	1	rs572913737		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:33795853G>A	ENST00000389232.4	+	3	263	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	65					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)		AGATCTCTGCGTCTGCAATTT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20468	0.0		0.0	False		,,,				2504	0.001					ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(193-195)Gtc>Atc		ryanodine receptor 3							56	57	57					15																	33795853		1941	4151	6092	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33795853G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.193G>A	15.37:g.33795853G>A	ENSP00000373884:p.Val65Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.V65I	p.V65I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	3	263	+		all_lung(180;7.18e-09)	65					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.193G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	8.783	0.928601	0.18131	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98164	-4.76;-4.76	5.36	3.36	0.38483	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.069726	0.56097	D	0.000033	D	0.87811	0.6271	N	0.00436	-1.5	0.32828	D	0.503591	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	D	0.85323	0.1085	10	0.22706	T	0.39	.	5.095	0.14729	0.3515:0.0:0.6485:0.0	.	65;65	Q15413-2;Q15413	.;RYR3_HUMAN	I	65	ENSP00000373884:V65I;ENSP00000399610:V65I	ENSP00000354735:V65I	V	+	1	0	RYR3	31583145	0.998000	0.40836	0.994000	0.49952	0.995000	0.86356	2.728000	0.47319	1.479000	0.48272	0.655000	0.94253	GTC		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	96	0	0	0	1	0	5	96					A	33795853	G	A	33795853	3	1	85	1	0	0	0	0	1	0	0	0	13820	1145	40	1	203	1	RYR3	15	33795853	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		33795853	68735539	111	32845											
SPRED1	161742	broad.mit.edu	37	chr15	38643373	38643373	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgattccagtattcaGttttctaaaccagacagtaa	7	8	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:38643373G>C	ENST00000299084.4	+	7	1703	c.843G>C	c.(841-843)caG>caC	p.Q281H		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	281	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCAGTATTCAGTTTTCTAAAC	0.398									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	ENST00000299084.4																			0				kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(841-843)caG>caC		sprouty-related, EVH1 domain containing 1							82	82	82					15																	38643373		2200	4297	6497	SO:0001583	missense	161742	Legius syndrome	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	g.chr15:38643373G>C	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.843G>C	15.37:g.38643373G>C	ENSP00000299084:p.Gln281His						p.Q281H	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	7	1703	+		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)	281			KBD.		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	ENST00000299084.4	37	c.843G>C	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801388	0.02841	.	.	ENSG00000166068	ENST00000299084	D	0.84298	-1.83	5.97	-0.439	0.12264	c-Kit-binding domain (1);	0.734032	0.14484	N	0.316776	T	0.69205	0.3085	N	0.14661	0.345	0.21325	N	0.999728	B	0.02656	0.0	B	0.01281	0.0	T	0.52358	-0.8586	10	0.24483	T	0.36	-18.8552	9.1329	0.36857	0.2898:0.2295:0.4807:0.0	.	281	Q7Z699	SPRE1_HUMAN	H	281	ENSP00000299084:Q281H	ENSP00000299084:Q281H	Q	+	3	2	SPRED1	36430665	0.847000	0.29606	0.971000	0.41717	0.969000	0.65631	0.024000	0.13555	-0.315000	0.08703	-0.153000	0.13522	CAG		0.398	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			32	297	0	0	0	1	0	32	297					C	38643373	G	C	38643373	3	2	85	1	0	0	0	0	1	0	0	0	15144	1020	36	5	869	5	SPRED1	15	38643373	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4847520	38643373	63888019	112	32846											
SLC24A1	9187	broad.mit.edu	37	chr15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaagagcaggaggaaGaggaggaggaggaggaggaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del	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	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	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.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	162						7	162	---	---	---	---	-	65943130	GAG	-	65943128	7	5	85	1	0	1	0	1	0	0	0	0	14515	943	33	0	769	0	SLC24A1	15	65943128	In_Frame_Del	DEL	GAG	TCGA-IB-A5SQ-01A-11D-A32N-08	27299755	65943128	36588264	113	32847											
LINGO1	84894	broad.mit.edu	37	chr15	77907604	77907604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctcaggacgatgaggccGtgcaggtgggacagcgcctc	16	12	1	1	rs373064406		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:77907604G>A	ENST00000355300.6	-	2	819	c.645C>T	c.(643-645)caC>caT	p.H215H	LINGO1_ENST00000561030.1_Silent_p.H209H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	215					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						CGATGAGGCCGTGCAGGTGGG	0.607																																						ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(643-645)caC>caT		leucine rich repeat and Ig domain containing 1		G		0,4354		0,0,2177	108	117	114		645	3.6	1	15		114	1,8549		0,1,4274	no	coding-synonymous	LINGO1	NM_032808.5		0,1,6451	AA,AG,GG		0.0117,0.0,0.0077		215/621	77907604	1,12903	2177	4275	6452	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907604G>A	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.645C>T	15.37:g.77907604G>A						LINGO1_ENST00000561030.1_Silent_p.H209H	p.H215H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	819	-			215					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.645C>T	CCDS45313.1																																																																																				0.607	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		5	522	0	0	0	1	0	5	522					A	77907604	G	A	77907604	2	1	85	1	0	0	0	0	0	0	0	1	8847	1136	40	1		1	LINGO1	15	77907604	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	11964476	77907604	24623788	114	32848											
ACAN	176	broad.mit.edu	37	chr15	89386864	89386864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccctcatcccgctacgacGccatctgctacacaggtggg	9	17	2	0	rs545729531		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr15:89386864G>A	ENST00000561243.1	+	5	1036	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	ACAN_ENST00000439576.2_Missense_Mutation_p.A346T|ACAN_ENST00000352105.7_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T|ACAN_ENST00000559004.1_Missense_Mutation_p.A346T			P16112	PGCA_HUMAN	aggrecan	346	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGCTACGACGCCATCTGCTA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16915	0.0		0.0	False		,,,				2504	0.001					ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1036-1038)Gcc>Acc		aggrecan							50	53	52					15																	89386864		2010	4166	6176	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386864G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1036G>A	15.37:g.89386864G>A	ENSP00000453342:p.Ala346Thr					ACAN_ENST00000559004.1_Missense_Mutation_p.A346T|ACAN_ENST00000558207.1_Missense_Mutation_p.A346T|ACAN_ENST00000561243.1_Missense_Mutation_p.A346T|ACAN_ENST00000352105.7_Missense_Mutation_p.A346T	p.A346T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1410	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		346					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1036G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599722	0.87055	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.10763	2.84;2.84	5.56	5.56	0.83823	.	0.000000	0.32503	N	0.006009	T	0.39172	0.1068	M	0.82517	2.595	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.974	T	0.25047	-1.0143	10	0.72032	D	0.01	-24.3884	18.5257	0.90971	0.0:0.0:1.0:0.0	.	346;346;346	E7ENV9;E7EX88;Q6PID9	.;.;.	T	346	ENSP00000387356:A346T;ENSP00000341615:A346T	ENSP00000268134:A346T	A	+	1	0	ACAN	87187868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.639000	0.98448	2.626000	0.88956	0.650000	0.86243	GCC		0.632	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		5	475	0	0	0	1	0	5	475					A	89386864	G	A	89386864	3	1	85	1	0	0	0	0	1	0	0	0	117	1087	38	1	1054	1	ACAN	15	89386864	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	11479260	89386864	13144528	115	32849											
KIAA0430	9665	broad.mit.edu	37	chr16	15729930	15729930	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgattgtcctggtgctttgCgagtctaacagtgcgcccgg	14	10	1	1	rs369662480		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:15729930C>T	ENST00000396368.3	-	3	620	c.414G>A	c.(412-414)tcG>tcA	p.S138S	KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Silent_p.S138S|KIAA0430_ENST00000540441.2_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	138					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						TGGTGCTTTGCGAGTCTAACA	0.547																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(412-414)tcG>tcA		KIAA0430		C	,,	1,4165		0,1,2082	170	170	170		414,414,414	-6.8	0.8	16		170	0,8422		0,0,4211	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA0430	NM_001184998.1,NM_001184999.1,NM_014647.3	,,	0,1,6293	TT,TC,CC		0.0,0.024,0.0079	,,	138/1743,138/1740,138/1743	15729930	1,12587	2083	4211	6294	SO:0001819	synonymous_variant	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729930C>T	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.414G>A	16.37:g.15729930C>T						KIAA0430_ENST00000551742.1_Silent_p.S138S|KIAA0430_ENST00000602337.1_Silent_p.S138S|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000548025.1_Silent_p.S138S|KIAA0430_ENST00000540441.2_Silent_p.S138S	p.S138S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	620	-			137					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Silent	SNP	ENST00000396368.3	37	c.414G>A	CCDS10562.2																																																																																				0.547	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	745	0	0	0	1	0	7	745					T	15729930	C	T	15729930	2	4	85	1	0	0	0	0	0	0	0	1	8207	755	27	1		1	KIAA0430	16	15729930	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		15729930	74624823	116	32850											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942323	24942323	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gactggggttctgttttcctAggggcggagtactggggggc	19	7	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:24942323A>G	ENST00000289968.6	-	19	2366	c.2297T>C	c.(2296-2298)cTa>cCa	p.L766P	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	766	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGTTTTCCTAGGGGCGGAGT	0.617																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2296-2298)cTa>cCa		Rho GTPase activating protein 17							70	85	80					16																	24942323		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942323A>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2297T>C	16.37:g.24942323A>G	ENSP00000289968:p.Leu766Pro					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.L688P	p.L766P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2366	-			766			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.2297T>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466931	0.26335	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.20738	2.05;2.08	5.39	4.27	0.50696	.	0.234011	0.21868	N	0.067922	T	0.34454	0.0898	L	0.41356	1.27	0.31123	N	0.708582	B;B;D;B;B	0.89917	0.004;0.003;1.0;0.137;0.215	B;B;D;B;B	0.91635	0.011;0.005;0.999;0.066;0.139	T	0.28138	-1.0053	10	0.54805	T	0.06	.	9.6939	0.40145	0.9158:0.0:0.0842:0.0	.	688;766;299;599;327	Q68EM7-2;Q68EM7;Q68EM7-7;B4DWE9;B4DVF3	.;RHG17_HUMAN;.;.;.	P	766;688;766	ENSP00000289968:L766P;ENSP00000303130:L688P	ENSP00000289968:L766P	L	-	2	0	ARHGAP17	24849824	0.862000	0.29867	0.018000	0.16275	0.069000	0.16628	3.540000	0.53611	0.829000	0.34733	0.454000	0.30748	CTA		0.617	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		71	707	0	0	0	1	0	71	707					G	24942323	A	G	24942323	3	3	85	1	0	0	0	0	1	0	0	0	867	420	15	4	356	4	ARHGAP17	16	24942323	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08	9212393	24942323	65412430	117	32851											
ORAI3	93129	broad.mit.edu	37	chr16	30964972	30964974	+	In_Frame_Del	DEL	GTG	GTG	-													ctgcccaccccggcaagcctGtggtggtggtggggcccatg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:30964972_30964974delGTG	ENST00000318663.4	+	2	919_921	c.695_697delGTG	c.(694-699)tgtggt>tgt	p.G236del	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_In_Frame_Del_p.G236del|ORAI3_ENST00000562699.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	236					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGCAAGCCTGTGGTGGTGGTGG	0.645											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(694-699)tgt>t		ORAI calcium release-activated calcium modulator 3																																				SO:0001651	inframe_deletion	93129					integral to membrane	protein binding	g.chr16:30964972_30964974delGTG	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.695_697delGTG	16.37:g.30964981_30964983delGTG	ENSP00000322249:p.Gly236del		OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	ORAI3_ENST00000562699.1_Intron|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_In_Frame_Del_p.CG232del	p.CG232del	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			2	919_921	+			232					Q96BI8	In_Frame_Del	DEL	ENST00000318663.4	37	c.695_697delGTG	CCDS10697.1																																																																																				0.645	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		7	824						7	824	---	---	---	---	-	30964974	GTG	-	30964972	7	5	85	1	0	1	0	1	0	0	0	0	11301	1377	48	0	701	0	ORAI3	16	30964972	In_Frame_Del	DEL	GTG	TCGA-IB-A5SQ-01A-11D-A32N-08	6022649	30964972	59389781	118	32852											
THAP11	57215	broad.mit.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	10	14	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22	27	25					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		5	489	0	0	0	1	0	5	489					A	67876808	G	A	67876808	2	1	85	1	0	0	0	0	0	0	0	1	15895	962	34	2		2	THAP11	16	67876808	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	36911836	67876808	22477945	119	32853											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-													agggtttggattttgaggccAaaaaccagcacaccctgtac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(1201-1203)aafs		cadherin 3, type 1, P-cadherin (placental)							229	242	238					16																	68718504		2198	4300	6498	SO:0001589	frameshift_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68718504delA	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1201delA	16.37:g.68718504delA	ENSP00000264012:p.Lys401fs					CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs|CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs	p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	10	1745	+		Ovarian(137;0.0564)	401			Cadherin 3.		B2R6F4|Q05DI6	Frame_Shift_Del	DEL	ENST00000264012.4	37	c.1201delA	CCDS10868.1																																																																																				0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		7	1573						7	1573	---	---	---	---	-	68718504	A	-	68718504	7	5	85	1	0	1	0	1	0	0	0	0	3120	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-IB-A5SQ-01A-11D-A32N-08	841696	68718504	21636249	120	32854											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-													gcatccacctgagccccgaaCagcagcagcagcagctgcag							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	622						7	622	---	---	---	---	-	17394707	CAG	-	17394705	7	5	85	1	0	1	0	1	0	0	0	0	9495	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-IB-A5SQ-01A-11D-A32N-08		17394705	63800505	121	32855											
HEXIM1	10614	broad.mit.edu	37	chr17	43227456	43227456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggagaagtgcctctcgcGcatggaggacgagaacaacc	13	11	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:43227456G>A	ENST00000332499.2	+	1	2773	c.899G>A	c.(898-900)cGc>cAc	p.R300H	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	300	Mediates interaction with CCNT1.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCTCTCGCGCATGGAGGAC	0.642																																						ENST00000332499.2																			0				breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(898-900)cGc>cAc		hexamethylene bis-acetamide inducible 1							57	67	64					17																	43227456		2203	4300	6503	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227456G>A	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.899G>A	17.37:g.43227456G>A	ENSP00000328773:p.Arg300His						p.R300H	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN			1	2773	+			300			Mediates interaction with CCNT1.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.899G>A	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923812	0.92319	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.62723	1.935	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	T	0.79266	-0.1874	9	0.72032	D	0.01	-12.0662	15.8819	0.79211	0.0:0.0:1.0:0.0	.	300	O94992	HEXI1_HUMAN	H	300	.	ENSP00000328773:R300H	R	+	2	0	HEXIM1	40583239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.488000	0.97947	2.338000	0.79540	0.561000	0.74099	CGC		0.642	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		6	570	0	0	0	1	0	6	570					A	43227456	G	A	43227456	3	1	85	1	0	0	0	0	1	0	0	0	7106	1087	38	1	901	1	HEXIM1	17	43227456	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	25832751	43227456	37967754	122	32856											
ZACN	353174	broad.mit.edu	37	chr17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctccgggccattgagcGcataggctacaaggtgacat	12	13	0	2	rs201259366		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123	114	117					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His					EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR	p.R261H	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		6	683	0	0	0	1	0	6	683					A	74077738	G	A	74077738	3	1	85	1	0	0	0	0	1	0	0	0	17564	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	30850282	74077738	7117472	123	32857											
KIAA0802	23255	broad.mit.edu	37	chr18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-													cccaccgatcagctcaggggCccccccgttttacctgagca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Intron	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98	108	104					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			9	1010						9	1010	---	---	---	---	-	8793004	C	-	8793004	7	5	85	1	0	1	0	1	0	0	0	0	8224	726	26	0	1918	0	KIAA0802	18	8793004	Frame_Shift_Del	DEL	C	TCGA-IB-A5SQ-01A-11D-A32N-08		8793004	69284244	124	32858											
CNDP1	84735	broad.mit.edu	37	chr18	72228136	72228136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tacctcccatcatcctggccGaactggggagcgatcccacg	10	16	1	0	rs150779486	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr18:72228136G>A	ENST00000358821.3	+	4	577	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.E74K|CNDP1_ENST00000585136.1_Intron	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	117						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CATCCTGGCCGAACTGGGGAG	0.552													G|||	12	0.00239617	0.0091	0.0	5008	,	,		16481	0.0		0.0	False		,,,				2504	0.0				Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(220-222)Gaa>Aaa		carnosine dipeptidase 1 (metallopeptidase M20 family)		G	LYS/GLU	47,4359	48.9+/-83.8	0,47,2156	135	136	136		349	4.2	0.1	18	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CNDP1	NM_032649.5	56	0,49,6454	AA,AG,GG		0.0233,1.0667,0.3767	possibly-damaging	117/508	72228136	49,12957	2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228136G>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"carnosinase 1", "glutamate carboxypeptidase-like protein 2"	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.349G>A	18.37:g.72228136G>A	ENSP00000351682:p.Glu117Lys					CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.E117K	p.E74K			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	286	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	117					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.220G>A	CCDS12007.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	5.843	0.339732	0.11069	0.010667	2.33E-4	ENSG00000150656	ENST00000358821	T	0.08896	3.04	5.11	4.22	0.49857	.	0.189436	0.45606	D	0.000347	T	0.03564	0.0102	L	0.45228	1.405	0.19300	N	0.99998	P	0.36633	0.562	B	0.14578	0.011	T	0.37641	-0.9697	10	0.13853	T	0.58	-25.2873	9.5834	0.39501	0.0785:0.1446:0.7769:0.0	.	117	Q96KN2	CNDP1_HUMAN	K	117	ENSP00000351682:E117K	ENSP00000351682:E117K	E	+	1	0	CNDP1	70379116	0.997000	0.39634	0.058000	0.19502	0.362000	0.29581	3.719000	0.54926	1.116000	0.41820	0.655000	0.94253	GAA		0.552	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		8	823	0	0	0	1	0	8	823					A	72228136	G	A	72228136	3	1	85	1	0	0	0	0	1	0	0	0	3602	1059	37	1	363	1	CNDP1	18	72228136	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	63435132	72228136	5849112	125	32859											
C19orf22	91300	broad.mit.edu	37	chr19	902036	902036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacgaggtctgagttccGcactgcctggttgatgaagt	15	9	1	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:902036G>A	ENST00000361574.5	-	2	239	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	56						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										TCTGAGTTCCGCACTGCCTGG	0.667																																						ENST00000361574.5																			0											c.(166-168)Cgg>Tgg		R3H domain containing 4							90	85	87					19																	902036		2203	4300	6503	SO:0001583	missense	91300					nucleus	nucleic acid binding	g.chr19:902036G>A	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 22"	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.166C>T	19.37:g.902036G>A	ENSP00000355385:p.Arg56Trp					R3HDM4_ENST00000587975.1_Missense_Mutation_p.R35W	p.R56W	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN			2	239	-			56						Missense_Mutation	SNP	ENST00000361574.5	37	c.166C>T	CCDS12048.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761642	0.49468	.	.	ENSG00000198858	ENST00000361574	.	.	.	4.66	-1.34	0.09143	.	0.000000	0.64402	U	0.000006	T	0.65091	0.2658	L	0.61218	1.895	0.51012	D	0.999903	P	0.51537	0.946	P	0.56514	0.8	T	0.70861	-0.4757	9	0.72032	D	0.01	-21.3311	14.4711	0.67517	0.0:0.0:0.5065:0.4935	.	56	Q96D70	CS022_HUMAN	W	56	.	ENSP00000355385:R56W	R	-	1	2	C19orf22	853036	1.000000	0.71417	0.932000	0.37286	0.153000	0.21895	4.107000	0.57811	0.044000	0.15775	-0.521000	0.04368	CGG		0.667	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		6	631	0	0	0	1	0	6	631					A	902036	G	A	902036	3	1	85	1	0	0	0	0	1	0	0	0	1921	1086	38	1	668	1	C19orf22	19	902036	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08		902036	58226947	126	32860											
SHD	56961	broad.mit.edu	37	chr19	4283173	4283173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgccccaggaagatgaaCggccagcagatgagtatgat	14	8	0	5	rs200550741	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4283173C>T	ENST00000543264.2	+	3	1989	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SHD_ENST00000599689.1_Missense_Mutation_p.R176W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	176										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGATGAACGGCCAGCAGA	0.567													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18620	0.0		0.0	False		,,,				2504	0.0					ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(526-528)Cgg>Tgg		Src homology 2 domain containing transforming protein D							59	57	58					19																	4283173		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4283173C>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"SH2 domain containing"	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.526C>T	19.37:g.4283173C>T	ENSP00000446058:p.Arg176Trp					SHD_ENST00000599689.1_Missense_Mutation_p.R176W	p.R176W	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1989	+			176					Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.526C>T	CCDS12125.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.6	4.175397	0.78564	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.35973	1.28	5.47	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.80332	2.49	0.42300	D	0.992177	D	0.89917	1.0	D	0.76071	0.987	T	0.63346	-0.6658	10	0.87932	D	0	-10.4695	11.5411	0.50667	0.4875:0.5125:0.0:0.0	.	176	Q96IW2	SHD_HUMAN	W	176;91	ENSP00000446058:R176W	ENSP00000221852:R91W	R	+	1	2	SHD	4234173	0.997000	0.39634	0.968000	0.41197	0.970000	0.65996	0.914000	0.28624	0.607000	0.29982	0.448000	0.29417	CGG		0.567	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		21	315	0	0	0	1	0	21	315					T	4283173	C	T	4283173	3	4	85	1	0	0	0	0	1	0	0	0	14325	527	19	1	536	1	SHD	19	4283173	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3381137	4283173	54845810	127	32861											
PLIN4	729359	broad.mit.edu	37	chr19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacattcactgcccccaTgagcccagtagtgactgtgt	11	13	1	2	rs570898926		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	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						ACTGCCCCCATGAGCCCAGTA	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		39657	0.0		0.0	False		,,,				2504	0.001					ENST00000301286.3																			0				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						c.(2071-2073)Atg>Gtg		perilipin 4							243	261	255					19																	4511859		2151	4245	6396	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511859T>C	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.2071A>G	19.37:g.4511859T>C	ENSP00000301286:p.Met691Val						p.M691V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2070	-			691			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2071A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670420	0.29693	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	5.31	5.31	0.75309	.	1.216040	0.06290	N	0.699098	T	0.04182	0.0116	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.41858	-0.9485	10	0.30854	T	0.27	-0.8619	9.4897	0.38951	0.1579:0.0:0.0:0.8421	.	691	Q96Q06	PLIN4_HUMAN	V	691	ENSP00000301286:M691V	ENSP00000301286:M691V	M	-	1	0	PLIN4	4462859	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	0.103000	0.15292	2.008000	0.58898	0.386000	0.25728	ATG		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		10	2052	0	0	0	1	0	10	2052					C	4511859	T	C	4511859	3	2	85	1	0	0	0	0	1	0	0	0	12134	1464	51	4	2018	4	PLIN4	19	4511859	Missense_Mutation	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	228686	4511859	54617124	128	32862											
GTF2F1	2962	broad.mit.edu	37	chr19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-													aaggcctcgtcgtctgaaccCttcttcttcttctttttcct							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)aagdel	p.K251del	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					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						CGTCTGAACCCTTCTTCTTCTTC	0.611																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(751-753)del		general transcription factor IIF, polypeptide 1, 74kDa																																				SO:0001651	inframe_deletion	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381791_6381793delCTT		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.751_753delAAG	19.37:g.6381800_6381802delCTT	ENSP00000377969:p.Lys251del					GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	p.K251del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			7	1215_1217	-			251					B2RCS0|Q9BWN0	In_Frame_Del	DEL	ENST00000394456.5	37	c.751_753delAAG	CCDS12165.1																																																																																				0.611	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		8	286						8	286	---	---	---	---	-	6381793	CTT	-	6381791	7	5	85	1	0	1	0	1	0	0	0	0	6888	680	24	0	828	0	GTF2F1	19	6381791	In_Frame_Del	DEL	CTT	TCGA-IB-A5SQ-01A-11D-A32N-08	1869932	6381791	52747192	129	32863											
C3	718	broad.mit.edu	37	chr19	6692960	6692960	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttggtgtatcacgggcGcatcctcctggaagaccccg	11	13	2	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:6692960G>A	ENST00000245907.6	-	26	3457	c.3365C>T	c.(3364-3366)gCg>gTg	p.A1122V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1122					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)	TATCACGGGCGCATCCTCCTG	0.557																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(3364-3366)gCg>gTg		complement component 3							120	125	123					19																	6692960		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6692960G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3365C>T	19.37:g.6692960G>A	ENSP00000245907:p.Ala1122Val						p.A1122V	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	26	3457	-			1122					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3365C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535622	0.64972	.	.	ENSG00000125730	ENST00000245907	T	0.36340	1.26	5.88	-0.693	0.11298	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.399877	0.28082	N	0.016661	T	0.47673	0.1458	M	0.76574	2.34	0.22199	N	0.999292	D	0.54964	0.969	P	0.48166	0.569	T	0.61559	-0.7038	10	0.48119	T	0.1	.	21.3471	0.99952	0.0:0.223:0.777:0.0	.	1122	P01024	CO3_HUMAN	V	1122	ENSP00000245907:A1122V	ENSP00000245907:A1122V	A	-	2	0	C3	6643960	0.005000	0.15991	0.191000	0.23289	0.673000	0.39480	0.146000	0.16180	0.064000	0.16427	-0.147000	0.13772	GCG		0.557	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		6	864	0	0	0	1	0	6	864					A	6692960	G	A	6692960	3	1	85	1	0	0	0	0	1	0	0	0	2211	1087	38	1	1690	1	C3	19	6692960	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	311169	6692960	52436023	130	32864											
SNAPC2	6618	broad.mit.edu	37	chr19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-													ctccaaggcaccagaggagaCccccccagccaccgagaagg					rs370485799		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:7987519delC	ENST00000221573.6	+	5	926	c.875delC	c.(874-876)accfs	p.T292fs	SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	292					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCAGAGGAGACCCCCCCAGCC	0.662																																						ENST00000221573.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(874-876)acfs		small nuclear RNA activating complex, polypeptide 2, 45kDa							54	72	66					19																	7987519		2203	4300	6503	SO:0001589	frameshift_variant	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987519delC	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"small nuclear RNA activating complex, polypeptide 2, 45kD"			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.875delC	19.37:g.7987519delC	ENSP00000221573:p.Thr292fs					SNAPC2_ENST00000597584.1_Frame_Shift_Del_p.T55fs	p.T292fs	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			5	926	+			292					B2RBZ6|D6W663|Q13486	Frame_Shift_Del	DEL	ENST00000221573.6	37	c.875delC	CCDS12190.1																																																																																				0.662	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		7	473						7	473	---	---	---	---	-	7987519	C	-	7987519	7	5	85	1	0	1	0	1	0	0	0	0	14885	507	18	0	893	0	SNAPC2	19	7987519	Frame_Shift_Del	DEL	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1294559	7987519	51141464	131	32865											
SMARCA4	6597	broad.mit.edu	37	chr19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaggaccgagcccaccGcatcgggcagcagaacgagg	15	14	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:11143994G>A	ENST00000429416.3	+	27	3856	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612			"F, N, Mis"		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"F, N, Mis"	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3574-3576)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							63	62	62					19																	11143994		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143994G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3575G>A	19.37:g.11143994G>A	ENSP00000395654:p.Arg1192His					SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H	p.R1192H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3859	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1192			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3575G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769759	0.90020	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.99863	4.86	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	-34.1151	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1192;1192;1192;1192;1192;412;1192	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1192;1192;1256;1192;1192;1192;1192;1192	ENSP00000395654:R1192H;ENSP00000350720:R1192H;ENSP00000343896:R1192H;ENSP00000445036:R1192H;ENSP00000392837:R1192H;ENSP00000397783:R1192H;ENSP00000414727:R1192H	ENSP00000343896:R1192H	R	+	2	0	SMARCA4	11004994	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	CGC		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	371	0	0	0	1	0	18	371					A	11143994	G	A	11143994	3	1	85	1	0	0	0	0	1	0	0	0	14820	1087	38	1	3673	1	SMARCA4	19	11143994	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3156475	11143994	47984989	132	32866											
PKN1	5585	broad.mit.edu	37	chr19	14581660	14581660	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgaagaaacagcccttcttCagggtgagattccccacaag	10	11	2	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:14581660C>T	ENST00000242783.6	+	21	2787	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F	PKN1_ENST00000342216.4_Silent_p.F880F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	874	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						AGCCCTTCTTCAGGGTGAGAT	0.607																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2620-2622)ttC>ttT		protein kinase N1							84	100	95					19																	14581660		2024	4174	6198	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14581660C>T	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.2622C>T	19.37:g.14581660C>T						PKN1_ENST00000342216.4_Silent_p.F880F	p.F874F	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			21	2787	+			874			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.2622C>T	CCDS42513.1																																																																																				0.607	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		26	344	0	0	0	1	0	26	344					T	14581660	C	T	14581660	2	4	85	1	0	0	0	0	0	0	0	1	12021	825	29	2		2	PKN1	19	14581660	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	3437666	14581660	44547323	133	32867											
CHERP	10523	broad.mit.edu	37	chr19	16652806	16652806	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaactcgggcccattgCgagccacgaactgggcgagc	12	14	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:16652806C>T	ENST00000198939.6	-	2	110	c.74G>A	c.(73-75)cGc>cAc	p.R25H	CTD-3222D19.7_ENST00000595909.1_lincRNA|RN7SL146P_ENST00000472338.2_RNA|CHERP_ENST00000546361.2_Missense_Mutation_p.R25H|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGGCCCATTGCGAGCCACGAA	0.547																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(73-75)cGc>cAc		calcium homeostasis endoplasmic reticulum protein							75	88	84					19																	16652806		1923	4112	6035	SO:0001583	missense	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16652806C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"G patch domain containing"	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.74G>A	19.37:g.16652806C>T	ENSP00000198939:p.Arg25His					CHERP_ENST00000198939.6_Missense_Mutation_p.R25H|CTD-3222D19.2_ENST00000409035.1_Intron	p.R25H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			2	225	-			25						Missense_Mutation	SNP	ENST00000198939.6	37	c.74G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.720028	0.96839	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.52526	0.66;0.66	4.46	4.46	0.54185	SWAP/Surp (3);	.	.	.	.	T	0.76955	0.4060	H	0.95004	3.61	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	D	0.84965	0.0879	9	0.87932	D	0	-22.3913	16.1266	0.81400	0.0:1.0:0.0:0.0	.	25	Q8IWX8	CHERP_HUMAN	H	25	ENSP00000439856:R25H;ENSP00000198939:R25H	ENSP00000198939:R25H	R	-	2	0	CHERP	16513806	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.165000	0.77544	2.026000	0.59711	0.511000	0.50034	CGC		0.547	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		5	330	0	0	0	1	0	5	330					T	16652806	C	T	16652806	3	4	85	1	0	0	0	0	1	0	0	0	3345	768	27	1	2740	1	CHERP	19	16652806	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	2071146	16652806	42476177	134	32868											
GIPR	2696	broad.mit.edu	37	chr19	46178073	46178073	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaccaggcccttgcgCtgtggaaccaggtgggcatc	16	11	0	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:46178073C>G	ENST00000590918.1	+	7	721	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V	GIPR_ENST00000304207.8_Missense_Mutation_p.L172V|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.L208V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	208					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)		GGCCCTTGCGCTGTGGAACCA	0.577																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(622-624)Ctg>Gtg		gastric inhibitory polypeptide receptor							67	58	61					19																	46178073		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46178073C>G		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.622C>G	19.37:g.46178073C>G	ENSP00000467494:p.Leu208Val					GIPR_ENST00000304207.8_Missense_Mutation_p.L172V|GIPR_ENST00000263281.3_Missense_Mutation_p.L208V	p.L208V	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	7	721	+		Ovarian(192;0.051)|all_neural(266;0.112)	208					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.622C>G	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	C	0.067	-1.209882	0.01555	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.57907	0.37;1.21	4.29	2.14	0.27477	GPCR, family 2-like (1);	0.694941	0.12035	N	0.505605	T	0.29749	0.0743	N	0.04959	-0.14	0.09310	N	1	B;P;B	0.40000	0.187;0.698;0.17	B;B;B	0.40825	0.145;0.341;0.2	T	0.09100	-1.0690	10	0.29301	T	0.29	.	6.6579	0.22998	0.0:0.7816:0.0:0.2184	.	172;208;208	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	V	208;172	ENSP00000263281:L208V;ENSP00000305321:L172V	ENSP00000263281:L208V	L	+	1	2	GIPR	50869913	0.163000	0.22920	0.137000	0.22149	0.030000	0.12068	0.778000	0.26732	0.565000	0.29255	-0.258000	0.10820	CTG		0.577	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			4	248	0	0	0	1	0	4	248					G	46178073	C	G	46178073	3	3	85	1	0	0	0	0	1	0	0	0	6424	796	28	5	644	5	GIPR	19	46178073	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	29525267	46178073	12950910	135	32869											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.7	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	753						7	753	---	---	---	---	-	47572403	CTC	-	47572401	7	5	85	1	0	1	0	1	0	0	0	0	17623	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-IB-A5SQ-01A-11D-A32N-08	1394328	47572401	11556582	136	32870											
GLTSCR2	29997	broad.mit.edu	37	chr19	48248871	48248871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcagctcgaaaagcgatgccGattctggtttcctggggctg	14	10	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:48248871G>A	ENST00000246802.5	+	1	93	c.55G>A	c.(55-57)Gat>Aat	p.D19N	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	19						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		AAGCGATGCCGATTCTGGTTT	0.642																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(55-57)Gat>Aat		glioma tumor suppressor candidate region gene 2							81	92	88					19																	48248871		2203	4300	6503	SO:0001583	missense	29997					nucleolus		g.chr19:48248871G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.55G>A	19.37:g.48248871G>A	ENSP00000246802:p.Asp19Asn					GLTSCR2_ENST00000598681.1_3'UTR	p.D19N	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	1	93	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	19					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Missense_Mutation	SNP	ENST00000246802.5	37	c.55G>A	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728740	0.48833	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33865	1.39	4.55	2.37	0.29283	.	0.288040	0.34088	N	0.004263	T	0.20129	0.0484	L	0.34521	1.04	0.09310	N	1	D;D;D	0.52996	0.957;0.957;0.957	B;B;B	0.34301	0.179;0.179;0.179	T	0.16394	-1.0404	10	0.62326	D	0.03	-7.8529	7.5527	0.27806	0.2055:0.0:0.7945:0.0	.	19;19;17	Q53YP0;Q9NZM5;Q96CS0	.;GSCR2_HUMAN;.	N	19	ENSP00000246802:D19N	ENSP00000246802:D19N	D	+	1	0	GLTSCR2	52940683	0.391000	0.25221	0.016000	0.15963	0.050000	0.14768	0.829000	0.27449	0.454000	0.26884	0.655000	0.94253	GAT		0.642	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		6	833	0	0	0	1	0	6	833					A	48248871	G	A	48248871	3	1	85	1	0	0	0	0	1	0	0	0	6504	1058	37	1	57	1	GLTSCR2	19	48248871	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	676470	48248871	10880112	137	32871											
ALDH16A1	126133	broad.mit.edu	37	chr19	49967177	49967177	+	Frame_Shift_Del	DEL	C	C	-													caaccttggtctccaacctgCccccagcctccccatgtgcc							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:49967177delC	ENST00000293350.4	+	9	1328	c.1165delC	c.(1165-1167)cccfs	p.P390fs	CTD-3148I10.9_ENST00000599536.1_Frame_Shift_Del_p.A24fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Del_p.P227fs|ALDH16A1_ENST00000455361.2_Frame_Shift_Del_p.P339fs|ALDH16A1_ENST00000433981.2_Frame_Shift_Del_p.P225fs	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	390						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTCCAACCTGCCCCCAGCCTC	0.602																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1165-1167)ccfs		aldehyde dehydrogenase 16 family, member A1							185	187	186					19																	49967177		2203	4300	6503	SO:0001589	frameshift_variant	126133						oxidoreductase activity|protein binding	g.chr19:49967177delC	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1165delC	19.37:g.49967177delC	ENSP00000293350:p.Pro390fs					ALDH16A1_ENST00000433981.2_Frame_Shift_Del_p.P225fs|ALDH16A1_ENST00000540132.1_Frame_Shift_Del_p.P227fs|ALDH16A1_ENST00000455361.2_Frame_Shift_Del_p.P339fs|CTD-3148I10.9_ENST00000599536.1_Frame_Shift_Del_p.A24fs	p.P390fs	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	9	1328	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	390					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Frame_Shift_Del	DEL	ENST00000293350.4	37	c.1165delC	CCDS12766.1																																																																																				0.602	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		8	1349						8	1349	---	---	---	---	-	49967177	C	-	49967177	7	5	85	1	0	1	0	1	0	0	0	0	488	739	26	0	1199	0	ALDH16A1	19	49967177	Frame_Shift_Del	DEL	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1718306	49967177	9161806	138	32872											
NUP62	23636	broad.mit.edu	37	chr19	50412206	50412208	+	In_Frame_Del	DEL	TGC	TGC	-													attcaaggcaaagccggtggTgctgctgctgctggtggtgg					rs564852163		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:50412206_50412208delTGC	ENST00000596217.1	-	2	2744_2746	c.857_859delGCA	c.(856-861)agcacc>acc	p.S286del	NUP62_ENST00000352066.3_In_Frame_Del_p.S286del|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_In_Frame_Del_p.S286del|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_In_Frame_Del_p.S286del|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_In_Frame_Del_p.S286del|NUP62_ENST00000597723.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	286	15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGCCggtggtgctgctgctgct	0.635																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(856-861)acc>a		nucleoporin 62kDa																																				SO:0001651	inframe_deletion	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412206_50412208delTGC	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.857_859delGCA	19.37:g.50412215_50412217delTGC	ENSP00000471191:p.Ser286del					IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_In_Frame_Del_p.ST286del|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000413454.1_In_Frame_Del_p.ST286del|NUP62_ENST00000597029.1_In_Frame_Del_p.ST286del|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_In_Frame_Del_p.ST286del	p.ST286del			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2744_2746	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	286			15 X 9 AA approximate repeats.|Ala-rich.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	In_Frame_Del	DEL	ENST00000596217.1	37	c.857_859delGCA	CCDS12788.1																																																																																				0.635	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		7	331						7	331	---	---	---	---	-	50412208	TGC	-	50412206	7	5	85	1	0	1	0	1	0	0	0	0	10810	1696	59	0	713	0	NUP62	19	50412206	In_Frame_Del	DEL	TGC	TCGA-IB-A5SQ-01A-11D-A32N-08	445029	50412206	8716777	139	32873											
KLK11	11012	broad.mit.edu	37	chr19	51527499	51527499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggaaggactcagtggCtgtccgggtctgctcacagc	17	10	3	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:51527499C>T	ENST00000594768.1	-	4	546	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	121	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)		GACTCAGTGGCTGTCCGGGTC	0.582																																						ENST00000594768.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(361-363)Gcc>Acc		kallikrein-related peptidase 11							105	98	101					19																	51527499		2203	4300	6503	SO:0001583	missense	11012				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51527499C>T	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.361G>A	19.37:g.51527499C>T	ENSP00000473047:p.Ala121Thr					KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Missense_Mutation_p.A89T|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000391804.3_Missense_Mutation_p.A114T|KLK11_ENST00000319720.7_Missense_Mutation_p.A89T	p.A121T	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)	4	546	-		all_neural(266;0.026)	121			Peptidase S1.		O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	37	c.361G>A	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	c	13.83	2.354005	0.41700	.	.	ENSG00000167757	ENST00000391804;ENST00000319720;ENST00000453757;ENST00000319756	D;D;D	0.92965	-3.14;-3.14;-3.14	4.32	3.25	0.37280	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37906	U	0.001893	D	0.86531	0.5955	L	0.37897	1.145	0.30572	N	0.763413	B;B	0.29341	0.242;0.242	B;B	0.32393	0.145;0.145	D	0.83710	0.0187	10	0.72032	D	0.01	.	7.0907	0.25282	0.1979:0.6103:0.1918:0.0	.	121;114	Q9UBX7;Q8IXD7	KLK11_HUMAN;.	T	114;89;89;121	ENSP00000375680:A114T;ENSP00000324269:A89T;ENSP00000413958:A89T	ENSP00000324269:A89T	A	-	1	0	KLK11	56219311	0.152000	0.22762	0.709000	0.30452	0.782000	0.44232	0.785000	0.26830	0.977000	0.38444	0.462000	0.41574	GCC		0.582	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853		24	517	0	0	0	1	0	24	517					T	51527499	C	T	51527499	3	4	85	1	0	0	0	0	1	0	0	0	8429	797	28	2	499	2	KLK11	19	51527499	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	1115293	51527499	7601484	140	32874											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	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.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		8	742	0	0	0	1	0	8	742					A	53644386	T	A	53644386	2	1	85	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	2116887	53644386	5484597	141	32875											
ZNF845	91664	broad.mit.edu	37	chr19	53848784	53848784	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attgacattcagggatgtggCcatagaattctctcaggaag	11	7	3	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53848784C>T	ENST00000595091.1	+	4	260	c.41C>T	c.(40-42)gCc>gTc	p.A14V	ZNF845_ENST00000458035.1_Missense_Mutation_p.A14V			Q96IR2	ZN845_HUMAN	zinc finger protein 845	14	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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGGGATGTGGCCATAGAATTC	0.453																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(40-42)gCc>gTc		zinc finger protein 845							92	87	89					19																	53848784		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848784C>T	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.41C>T	19.37:g.53848784C>T	ENSP00000470005:p.Ala14Val					ZNF845_ENST00000595091.1_Missense_Mutation_p.A14V	p.A14V	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			3	158	+			14			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.41C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632422	0.29068	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03301	3.98	1.85	0.738	0.18319	Krueppel-associated box (4);	.	.	.	.	T	0.14527	0.0351	M	0.86864	2.845	0.21675	N	0.999596	D	0.59767	0.986	P	0.61070	0.883	T	0.05370	-1.0889	9	0.72032	D	0.01	.	6.185	0.20491	0.0:0.822:0.0:0.178	.	14	Q96IR2	ZN845_HUMAN	V	14	ENSP00000388311:A14V	ENSP00000352990:A14V	A	+	2	0	ZNF845	58540596	0.731000	0.28111	0.946000	0.38457	0.152000	0.21847	0.873000	0.28052	0.133000	0.18654	0.134000	0.15878	GCC		0.453	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		35	652	0	0	0	1	0	35	652					T	53848784	C	T	53848784	3	4	85	1	0	0	0	0	1	0	0	0	18244	739	26	2	47	2	ZNF845	19	53848784	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	204398	53848784	5280199	142	32876											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	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)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	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.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	293	0	0	0	1	0	5	293					A	53855284	G	A	53855284	2	1	85	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	6500	53855284	5273699	143	32877											
ZNF761	388561	broad.mit.edu	37	chr19	53958820	53958820	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttcatactggagagaaaccTtacaagtgtaatgagtgtgg	11	6	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							146	146	146					19																	53958820		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958820T>C	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958820T>C										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1512	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		8	614	0	0	0	1	0	8	614					C	53958820	T	C	53958820	1	2	85	0	1	0	0	0	0	0	0	0	18189	1596	56	4		4	ZNF761	19	53958820	RNA	SNP	T	TCGA-IB-A5SQ-01A-11D-A32N-08	103536	53958820	5170163	144	32878											
LILRB2	10288	broad.mit.edu	37	chr19	54782813	54782813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccagcctggggctgcCggccagggagctggcgaagg	19	12	0	1	rs141001610	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr19:54782813C>T	ENST00000391749.4	-	6	1080	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	270	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGCTGCCGGCCAGGGAG	0.627																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(808-810)cGg>cAg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2							55	58	57					19																	54782813		2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782813C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.809G>A	19.37:g.54782813C>T	ENSP00000375629:p.Arg270Gln					LILRB2_ENST00000391746.1_Missense_Mutation_p.R270Q|LILRB2_ENST00000434421.1_Missense_Mutation_p.R154Q|LILRB2_ENST00000314446.5_Missense_Mutation_p.R270Q|LILRB2_ENST00000391749.4_Missense_Mutation_p.R270Q	p.R270Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	936	-	Ovarian(34;0.19)		270			Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.809G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	5.569	0.289861	0.10567	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00686	5.85;5.85;5.85;5.85;5.85	1.81	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.309270	0.00911	N	0.002460	T	0.00384	0.0012	N	0.02658	-0.545	0.09310	N	1	B;B;B	0.18310	0.023;0.013;0.027	B;B;B	0.19391	0.011;0.011;0.025	T	0.41945	-0.9480	10	0.02654	T	1	.	1.7023	0.02875	0.2971:0.3746:0.0:0.3284	.	270;287;270	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	Q	270;270;270;270;154	ENSP00000375628:R270Q;ENSP00000319960:R270Q;ENSP00000375629:R270Q;ENSP00000375626:R270Q;ENSP00000410117:R154Q	ENSP00000319960:R270Q	R	-	2	0	LILRB2	59474625	0.000000	0.05858	0.001000	0.08648	0.400000	0.30750	-2.978000	0.00664	-0.281000	0.09141	0.449000	0.29647	CGG		0.627	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			7	424	0	0	0	1	0	7	424					T	54782813	C	T	54782813	3	4	85	1	0	0	0	0	1	0	0	0	8823	652	23	1	1023	1	LILRB2	19	54782813	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	823993	54782813	4346170	145	32879											
ZHX3	23051	broad.mit.edu	37	chr20	39830891	39830891	+	Frame_Shift_Del	DEL	T	T	-													ctgccacggctctggtctccTcccccattttctcagcaaac							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:39830891delT	ENST00000309060.3	-	4	3081	c.2666delA	c.(2665-2667)gagfs	p.E890fs	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	890					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCTGGTCTCCTCCCCCATTTT	0.552																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2665-2667)ggfs		zinc fingers and homeoboxes 3							214	201	205					20																	39830891		2203	4300	6503	SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830891delT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2666delA	20.37:g.39830891delT	ENSP00000312222:p.Glu890fs					ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.E890fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.E890fs	p.E890fs			Q9H4I2	ZHX3_HUMAN			4	3081	-		Myeloproliferative disorder(115;0.00425)	890					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.2666delA	CCDS13315.1																																																																																				0.552	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		7	1387						7	1387	---	---	---	---	-	39830891	T	-	39830891	7	5	85	1	0	1	0	1	0	0	0	0	17730	1551	54	0	212	0	ZHX3	20	39830891	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08		39830891	23194629	146	32880											
NCOA5	57727	broad.mit.edu	37	chr20	44699006	44699006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctctgtgatcccGcaaatctctactatgtctgt	7	13	3	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:44699006G>A	ENST00000290231.6	-	3	372	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	70	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)	p.R70W(1)		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)				CTGTGATCCCGCAAATCTCTA	0.562																																						ENST00000290231.6																			1	Substitution - Missense(1)	p.R70W(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(208-210)Cgg>Tgg		nuclear receptor coactivator 5							136	132	133					20																	44699006		2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44699006G>A		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.208C>T	20.37:g.44699006G>A	ENSP00000290231:p.Arg70Trp						p.R70W	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			3	372	-		Myeloproliferative disorder(115;0.0122)	70			Arg/Asp-rich (mixed charge).|Transcription repression.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.208C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221434	0.58560	.	.	ENSG00000124160	ENST00000290231	T	0.55413	0.52	4.93	3.92	0.45320	.	0.191464	0.47852	D	0.000203	T	0.70395	0.3219	M	0.78049	2.395	0.44098	D	0.996864	D	0.89917	1.0	D	0.80764	0.994	T	0.73209	-0.4055	10	0.59425	D	0.04	-0.475	12.5287	0.56102	0.0:0.0:0.7888:0.2112	.	70	Q9HCD5	NCOA5_HUMAN	W	70	ENSP00000290231:R70W	ENSP00000290231:R70W	R	-	1	2	NCOA5	44132413	0.996000	0.38824	0.996000	0.52242	0.978000	0.69477	2.080000	0.41586	2.568000	0.86640	0.650000	0.86243	CGG		0.562	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		8	768	0	0	0	1	0	8	768					A	44699006	G	A	44699006	3	1	85	1	0	0	0	0	1	0	0	0	10274	1086	38	1	1555	1	NCOA5	20	44699006	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	4868115	44699006	18326514	147	32881											
KCNB1	3745	broad.mit.edu	37	chr20	47989891	47989891	+	Frame_Shift_Del	DEL	G	G	-													tgtgtgtttctcaggagaccGggggggtgtcttagcacttg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:47989891delG	ENST00000371741.4	-	2	2372	c.2206delC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					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)	TCAGGAGACCGGGGGGGTGTC	0.562																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)ggfs		potassium voltage-gated channel, Shab-related subfamily, member 1							67	72	70					20																	47989891		2203	4300	6503	SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989891delG	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.2206delC	20.37:g.47989891delG	ENSP00000360806:p.Arg736fs						p.R736fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372	-			736					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.2206delC	CCDS13418.1																																																																																				0.562	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		8	557						8	557	---	---	---	---	-	47989891	G	-	47989891	7	5	85	1	0	1	0	1	0	0	0	0	8042	1115	39	0	374	0	KCNB1	20	47989891	Frame_Shift_Del	DEL	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3290885	47989891	15035629	148	32882											
YTHDF1	54915	broad.mit.edu	37	chr20	61834082	61834082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggagtacttaatggagcGgtggatgtcgtcctcagagt	15	6	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr20:61834082G>A	ENST00000370339.3	-	4	1551	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	404	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTAATGGAGCGGTGGATGTCG	0.552																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1210-1212)Cgc>Tgc		YTH domain family, member 1							97	85	89					20																	61834082		2203	4300	6503	SO:0001583	missense	54915							g.chr20:61834082G>A	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1210C>T	20.37:g.61834082G>A	ENSP00000359364:p.Arg404Cys					YTHDF1_ENST00000370333.4_Missense_Mutation_p.R354C|YTHDF1_ENST00000370334.4_Intron	p.R404C	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1551	-			404			YTH.		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	37	c.1210C>T	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105768	0.77096	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.31769	1.48;1.48	4.72	4.72	0.59763	YTH domain (2);	0.047653	0.85682	N	0.000000	T	0.64438	0.2598	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74179	-0.3749	10	0.87932	D	0	-12.6731	18.0486	0.89341	0.0:0.0:1.0:0.0	.	404	Q9BYJ9	YTHD1_HUMAN	C	404;354	ENSP00000359364:R404C;ENSP00000359358:R354C	ENSP00000359358:R354C	R	-	1	0	YTHDF1	61304527	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	9.669000	0.98622	2.339000	0.79563	0.591000	0.81541	CGC		0.552	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		36	515	0	0	0	1	0	36	515					A	61834082	G	A	61834082	3	1	85	1	0	0	0	0	1	0	0	0	17552	1116	39	1	477	1	YTHDF1	20	61834082	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	13844191	61834082	1191438	149	32883											
SAMSN1	64092	broad.mit.edu	37	chr21	15882757	15882757	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtcccggttacttgtAccatctgaacagcttgttat	8	10	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:15882757A>G	ENST00000400566.1	-	5	516	c.435T>C	c.(433-435)ggT>ggC	p.G145G	SAMSN1_ENST00000285670.2_Silent_p.G213G|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	145					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)		GGTTACTTGTACCATCTGAAC	0.473																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(637-639)ggT>ggC		SAM domain, SH3 domain and nuclear localization signals 1							103	98	100					21																	15882757		2075	4224	6299	SO:0001819	synonymous_variant	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882757A>G	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.435T>C	21.37:g.15882757A>G						SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.G145G	p.G213G	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	813	-			145			SH3.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	ENST00000400566.1	37	c.639T>C	CCDS42906.1																																																																																				0.473	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			29	315	0	0	0	1	0	29	315					G	15882757	A	G	15882757	2	3	85	1	0	0	0	0	0	0	0	1	13880	378	14	4		4	SAMSN1	21	15882757	Silent	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08		15882757	32247138	150	32884											
IFNAR2	3455	broad.mit.edu	37	chr21	34634926	34634926	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acaggtgcagtcataatgcaCtacagtctgaaactcctgag	9	10	2	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:34634926C>A	ENST00000342136.4	+	9	1166				IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000404220.3_Missense_Mutation_p.L301I|IL10RB-AS1_ENST00000411998.1_RNA|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I|IFNAR2_ENST00000413881.1_Intron			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2						cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|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)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""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)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"	tcataatgcactacagtctga	0.443																																						ENST00000404220.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11						c.(901-903)Cta>Ata		interferon (alpha, beta and omega) receptor 2	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)						7	8	8					21																	34634926		1174	2274	3448	SO:0001627	intron_variant	3455				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity	g.chr21:34634926C>A		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"Interferons"	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.841-172C>A	21.37:g.34634926C>A						IFNAR2_ENST00000342101.3_Intron|IFNAR2_ENST00000342136.4_Intron|IFNAR2_ENST00000413881.1_Intron|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Intron|IFNAR2_ENST00000382264.3_Missense_Mutation_p.L301I	p.L301I			P48551	INAR2_HUMAN			9	1230	+			0					A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.901C>A	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635498	0.29068	.	.	ENSG00000159110	ENST00000382264;ENST00000404220	T;T	0.65549	-0.16;-0.16	0.784	-0.174	0.13319	.	.	.	.	.	T	0.76730	0.4028	M	0.92169	3.28	0.09310	N	1	D	0.60575	0.988	P	0.62184	0.899	T	0.64158	-0.6473	9	0.87932	D	0	.	2.9978	0.06004	0.0:0.6426:0.0:0.3574	.	301	P48551-2	.	I	301	ENSP00000371699:L301I;ENSP00000384309:L301I	ENSP00000371699:L301I	L	+	1	2	IFNAR2	33556796	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	0.750000	0.26334	-0.099000	0.12263	0.563000	0.77884	CTA		0.443	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			3	27	1	0	6.4e-05	1	6.69224e-05	3	27					A	34634926	C	A	34634926	1	1	85	0	1	0	0	0	0	0	0	0	7575	564	20	3		3	IFNAR2	21	34634926	Intron	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	18752169	34634926	13494969	151	32885											
SLC5A3	6526	broad.mit.edu	37	chr21	35468701	35468701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaacttatccgcaagagcGcaagctcccgggagttaatg	10	11	0	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:35468701G>A	ENST00000381151.3	+	2	1716	c.1204G>A	c.(1204-1206)Gca>Aca	p.A402T	SLC5A3_ENST00000608209.1_Missense_Mutation_p.A402T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	402					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						CCGCAAGAGCGCAAGCTCCCG	0.478																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1204-1206)Gca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							89	81	84					21																	35468701		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468701G>A		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.1204G>A	21.37:g.35468701G>A	ENSP00000370543:p.Ala402Thr					MRPS6_ENST00000399312.2_Intron	p.A402T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1716	+			402					O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.1204G>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122917	0.77436	.	.	ENSG00000198743	ENST00000381151	D	0.89196	-2.48	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94516	0.7723	10	0.87932	D	0	.	18.5913	0.91214	0.0:0.0:1.0:0.0	.	402	P53794	SC5A3_HUMAN	T	402	ENSP00000370543:A402T	ENSP00000370543:A402T	A	+	1	0	SLC5A3	34390571	1.000000	0.71417	0.584000	0.28653	0.979000	0.70002	7.792000	0.85828	2.677000	0.91161	0.655000	0.94253	GCA		0.478	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			5	363	0	0	0	1	0	5	363					A	35468701	G	A	35468701	3	1	85	1	0	0	0	0	1	0	0	0	14716	1087	38	1	1206	1	SLC5A3	21	35468701	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	833775	35468701	12661194	152	32886											
DSCAM	1826	broad.mit.edu	37	chr21	41496170	41496170	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtactttcggatgatgccGttcagcttgagagggggaag	16	6	1	2	rs201137339	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr21:41496170G>A	ENST00000400454.1	-	20	4125	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1216	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)				GGATGATGCCGTTCAGCTTGA	0.572													G|||	4	0.000798722	0.003	0.0	5008	,	,		17417	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3646-3648)aaC>aaT		Down syndrome cell adhesion molecule		G		11,4069		0,11,2029	155	164	161		3648	-3.6	1	21		161	0,8370		0,0,4185	no	coding-synonymous	DSCAM	NM_001389.3		0,11,6214	AA,AG,GG		0.0,0.2696,0.0884		1216/2013	41496170	11,12439	2040	4185	6225	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496170G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3648C>T	21.37:g.41496170G>A							p.N1216N	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			20	4125	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1216			Fibronectin type-III 4.		O60468	Silent	SNP	ENST00000400454.1	37	c.3648C>T	CCDS42929.1																																																																																				0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		6	753	0	0	0	1	0	6	753					A	41496170	G	A	41496170	2	1	85	1	0	0	0	0	0	0	0	1	4784	1136	40	1		1	DSCAM	21	41496170	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	6027469	41496170	6633725	153	32887											
PES1	23481	broad.mit.edu	37	chr22	30976129	30976129	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcataggtggccccaatgcaCaaagatttgtcccaggacac	9	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:30976129C>G	ENST00000405677.1	-	13	1606	c.663G>C	c.(661-663)ttG>ttC	p.L221F	PES1_ENST00000354694.7_Missense_Mutation_p.L360F|PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000402281.1_Missense_Mutation_p.L221F|PES1_ENST00000402284.3_Missense_Mutation_p.L343F	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCCCAATGCACAAAGATTTGT	0.577																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(661-663)ttG>ttC		pescadillo ribosomal biogenesis factor 1							144	135	138					22																	30976129		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976129C>G	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.663G>C	22.37:g.30976129C>G	ENSP00000385654:p.Leu221Phe					PES1_ENST00000335214.6_Missense_Mutation_p.L355F|PES1_ENST00000354694.6_Missense_Mutation_p.L360F|PES1_ENST00000402284.3_Missense_Mutation_p.L343F|PES1_ENST00000405677.1_Missense_Mutation_p.L221F	p.L221F			O00541	PESC_HUMAN			13	1654	-			360			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.663G>C		.	.	.	.	.	.	.	.	.	.	C	14.69	2.611636	0.46631	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.28	4.26	0.50523	BRCT (4);	0.482992	0.20082	N	0.099631	T	0.34658	0.0905	L	0.42529	1.33	0.80722	D	1	D;B;D;D	0.57571	0.973;0.197;0.98;0.973	P;B;P;P	0.52159	0.691;0.141;0.663;0.691	T	0.05937	-1.0855	10	0.49607	T	0.09	-4.9277	8.9919	0.36028	0.0:0.657:0.2658:0.0773	.	360;343;355;360	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	F	360;221;221;343;355	ENSP00000346725:L360F;ENSP00000384366:L221F;ENSP00000385654:L221F;ENSP00000384252:L343F;ENSP00000334612:L355F	ENSP00000334612:L355F	L	-	3	2	PES1	29306129	0.943000	0.32029	1.000000	0.80357	0.915000	0.54546	0.079000	0.14782	1.226000	0.43582	-0.150000	0.13652	TTG		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		5	649	0	0	0	1	0	5	649					G	30976129	C	G	30976129	3	3	85	1	0	0	0	0	1	0	0	0	11775	477	17	5	706	5	PES1	22	30976129	Missense_Mutation	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08		30976129	20328437	154	32888											
DDX17	11015	broad.mit.edu	37	chr22	38881965	38881967	+	IGR	DEL	GGA	GGA	-													tacgtgaaggaggaggagggGgaggaggaggagggtattgg							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:38881965_38881967delGGA	ENST00000216014.4	+	0	1728				DDX17_ENST00000396821.3_In_Frame_Del_p.723_724PP>P|DDX17_ENST00000381633.3_In_Frame_Del_p.644_645PP>P|DDX17_ENST00000444597.1_In_Frame_Del_p.173_174PP>P	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					aggaggagggggaggaggaggag	0.478																																					Ovarian(11;103 529 24120 28493 32980)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(2167-2172)ccc>cc		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001628	intergenic_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38881965_38881967delGGA	AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520		22.37:g.38881974_38881976delGGA						DDX17_ENST00000444597.1_In_Frame_Del_p.PP177del|DDX17_ENST00000381633.3_In_Frame_Del_p.PP648del	p.PP727del	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			13	2268_2270	-	Melanoma(58;0.0286)		646					A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	In_Frame_Del	DEL	ENST00000216014.4	37	c.2169_2171delTCC	CCDS13972.1																																																																																				0.478	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1			7	462						7	462	---	---	---	---	-	38881967	GGA	-	38881965	6	5	85	0	1	1	0	1	0	0	0	0	4355	1232	43	0		0	DDX17	22	38881965	IGR	DEL	GGA	TCGA-IB-A5SQ-01A-11D-A32N-08	7905836	38881965	12422601	155	32889											
NPTXR	23467	broad.mit.edu	37	chr22	39222607	39222607	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaagggggtgccctggccGgtgccgctggacctggaccg	19	12	0	1	rs557229755		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:39222607G>A	ENST00000333039.2	-	3	1119	c.996C>T	c.(994-996)acC>acT	p.T332T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	332	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)					TGCCCTGGCCGGTGCCGCTGG	0.637																																					Pancreas(139;2521 3281 36965)	ENST00000333039.2																			0				central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(994-996)acC>acT		neuronal pentraxin receptor							72	68	69					22																	39222607		2203	4300	6503	SO:0001819	synonymous_variant	23467					integral to membrane	metal ion binding	g.chr22:39222607G>A	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.996C>T	22.37:g.39222607G>A							p.T332T	NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN			3	1119	-	Melanoma(58;0.04)		332			Pentaxin.			Silent	SNP	ENST00000333039.2	37	c.996C>T	CCDS33647.1																																																																																				0.637	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318194.2	NM_014293		5	486	0	0	0	1	0	5	486					A	39222607	G	A	39222607	2	1	85	1	0	0	0	0	0	0	0	1	10646	1103	39	1		1	NPTXR	22	39222607	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	340642	39222607	12081959	156	32890											
MGAT3	4248	broad.mit.edu	37	chr22	39884386	39884386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttcgccttccacatgcGcaagtcgctctacggcttct	8	17	2	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:39884386G>A	ENST00000341184.6	+	2	1249	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		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	345					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)					TTCCACATGCGCAAGTCGCTC	0.622																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1033-1035)cGc>cAc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							76	81	79					22																	39884386		2200	4294	6494	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884386G>A	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.1034G>A	22.37:g.39884386G>A	ENSP00000345270:p.Arg345His						p.R345H	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1249	+	Melanoma(58;0.04)		345					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.1034G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827839	0.90955	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.83422	0.5251	M	0.79926	2.475	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.85194	0.1011	9	0.66056	D	0.02	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	345	Q09327	MGAT3_HUMAN	H	345	.	ENSP00000345270:R345H	R	+	2	0	MGAT3	38214332	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.978000	0.93450	2.535000	0.85469	0.561000	0.74099	CGC		0.622	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		6	814	0	0	0	1	0	6	814					A	39884386	G	A	39884386	3	1	85	1	0	0	0	0	1	0	0	0	9585	1087	38	1	1036	1	MGAT3	22	39884386	Missense_Mutation	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	661779	39884386	11420180	157	32891											
MKL1	57591	broad.mit.edu	37	chr22	40807886	40807886	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccctggcagggatggCggctccttgaaatctgctga	12	12	1	2			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:40807886C>T	ENST00000355630.3	-	15	2894	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P	MKL1_ENST00000402042.1_Silent_p.P718P|MKL1_ENST00000396617.3_Missense_Mutation_p.A772T|MKL1_ENST00000407029.1_Silent_p.P768P	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	768	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCAGGGATGGCGGCTCCTTGA	0.532			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2314-2316)Gcc>Acc		megakaryoblastic leukemia (translocation) 1							97	107	103					22																	40807886		2157	4183	6340	SO:0001819	synonymous_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40807886C>T	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2304G>A	22.37:g.40807886C>T						MKL1_ENST00000355630.3_Silent_p.P768P|MKL1_ENST00000407029.1_Silent_p.P768P|MKL1_ENST00000402042.1_Silent_p.P718P	p.A772T			Q969V6	MKL1_HUMAN			15	2904	-			770			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.2314G>A	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235131	0.39498	.	.	ENSG00000196588	ENST00000396617	T	0.46451	0.87	4.92	-7.52	0.01341	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	8	0.54805	T	0.06	-2.7668	1.9139	0.03293	0.1882:0.3859:0.1944:0.2315	.	772	E7ER32	.	T	772	ENSP00000379861:A772T	ENSP00000379861:A772T	A	-	1	0	MKL1	39137832	0.000000	0.05858	0.090000	0.20809	0.761000	0.43186	-0.214000	0.09292	-0.755000	0.04709	-1.744000	0.00683	GCC		0.532	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	986	0	0	0	1	0	7	986					T	40807886	C	T	40807886	2	4	85	1	0	0	0	0	0	0	0	1	9642	755	27	1		1	MKL1	22	40807886	Silent	SNP	C	TCGA-IB-A5SQ-01A-11D-A32N-08	923500	40807886	10496680	158	32892											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-													ggatggcctggtagttgtggTgctgctgctgctgctggttg					rs200555648	byFrequency	TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	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.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.66	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		10	306						10	306	---	---	---	---	-	40816889	TGC	-	40816887	7	5	85	1	0	1	0	1	0	0	0	0	9642	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-IB-A5SQ-01A-11D-A32N-08	9001	40816887	10487679	159	32893											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-													cggtgccaccccagaagcccCtgctgctgctgccaccgcca							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	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						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		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.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.65	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	984						7	984	---	---	---	---	-	41753401	CTG	-	41753399	7	5	85	1	0	1	0	1	0	0	0	0	17626	681	24	0	2986	0	ZC3H7B	22	41753399	In_Frame_Del	DEL	CTG	TCGA-IB-A5SQ-01A-11D-A32N-08	936512	41753399	9551167	160	32894											
TTLL1	25809	broad.mit.edu	37	chr22	43459909	43459909	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatttcactgtgcagaaccgGcaaaacccaagcttgtacct	7	12	1	1			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chr22:43459909G>A	ENST00000266254.7	-	7	897	c.657C>T	c.(655-657)tgC>tgT	p.C219C	TTLL1_ENST00000331018.7_Silent_p.C219C	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	219	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGCAGAACCGGCAAAACCCAA	0.458																																						ENST00000331018.7																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23						c.(655-657)tgC>tgT		tubulin tyrosine ligase-like family, member 1							197	185	189					22																	43459909		2203	4300	6503	SO:0001819	synonymous_variant	25809				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	g.chr22:43459909G>A	AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.657C>T	22.37:g.43459909G>A						TTLL1_ENST00000266254.7_Silent_p.C219C	p.C219C			O95922	TTLL1_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.00461)	7	897	-		Ovarian(80;0.0694)	219			TTL.		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Silent	SNP	ENST00000266254.7	37	c.657C>T	CCDS14043.1	.	.	.	.	.	.	.	.	.	.	G	9.861	1.196399	0.22037	.	.	ENSG00000100271	ENST00000495814	.	.	.	5.98	1.04	0.20106	.	.	.	.	.	T	0.50752	0.1634	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	.	4.5385	0.12045	0.3534:0.0:0.4944:0.1523	.	.	.	.	V	145	.	.	A	-	2	0	TTLL1	41789853	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	2.311000	0.43717	0.359000	0.24239	0.591000	0.81541	GCC		0.458	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319659.1	NM_012263		6	583	0	0	0	1	0	6	583					A	43459909	G	A	43459909	2	1	85	1	0	0	0	0	0	0	0	1	16776	1195	42	2		2	TTLL1	22	43459909	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	1706510	43459909	7844657	161	32895											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	685	0	0	0	1	0	10	685					G	37028425	A	G	37028425	3	3	85	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IB-A5SQ-01A-11D-A32N-08		37028425	118242135	162	32896											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		15	76						15	76	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	85	1	0	1	1	0	0	0	0	0	6217	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-IB-A5SQ-01A-11D-A32N-08	12179870	49208295	106062265	163	32897											
GSPT2	23708	broad.mit.edu	37	chrX	51486733	51486735	+	In_Frame_Del	DEL	GCA	GCA	-													ttccgagaccatggattcggGcagcagcagcagcgactcgg					rs17853537		TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:51486733_51486735delGCA	ENST00000340438.4	+	1	253_255	c.11_13delGCA	c.(10-15)ggcagc>ggc	p.S8del		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	8					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATGGATTCGGGCAGCAGCAGCAG	0.68																																						ENST00000340438.4																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(10-15)ggc>g		G1 to S phase transition 2				33,3656		2,18,11,1565,508						2.7	0.3			20	67,6353		6,27,28,2315,1696	no	coding	GSPT2	NM_018094.4		8,45,39,3880,2204	A1A1,A1R,A1,RR,R		1.0436,0.8946,0.9892				100,10009				SO:0001651	inframe_deletion	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51486733_51486735delGCA	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.11_13delGCA	X.37:g.51486742_51486744delGCA	ENSP00000341247:p.Ser8del						p.GS4del	NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN			1	253_255	+	Ovarian(276;0.236)		4					Q9H909|Q9NVY0|Q9NY44	In_Frame_Del	DEL	ENST00000340438.4	37	c.11_13delGCA	CCDS14336.1																																																																																				0.68	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			7	352						7	352	---	---	---	---	-	51486735	GCA	-	51486733	7	5	85	1	0	1	0	1	0	0	0	0	6857	1203	42	0	13	0	GSPT2	23	51486733	In_Frame_Del	DEL	GCA	TCGA-IB-A5SQ-01A-11D-A32N-08	2278438	51486733	103783827	164	32898											
TRO	7216	broad.mit.edu	37	chrX	54957327	54957327	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtggcttcagcggtggaccGagcacaggagctggcttcgg	17	10	1	0			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:54957327G>A	ENST00000173898.7	+	12	4282	c.4170G>A	c.(4168-4170)ccG>ccA	p.P1390P	TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1390	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						GCGGTGGACCGAGCACAGGAG	0.602																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(4168-4170)ccG>ccA		trophinin							61	63	62					X																	54957327		2044	4183	6227	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54957327G>A	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.4170G>A	X.37:g.54957327G>A						TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.P921P|TRO_ENST00000375041.2_Silent_p.P993P|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron	p.P1390P	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	4282	+			1390			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.4170G>A	CCDS43959.1																																																																																				0.602	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		28	545	0	0	0	1	0	28	545					A	54957327	G	A	54957327	2	1	85	1	0	0	0	0	0	0	0	1	16627	1045	37	1		1	TRO	23	54957327	Silent	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	3470594	54957327	100313233	165	32899											
DACH2	117154	broad.mit.edu	37	chrX	85969723	85969723	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctggtacctctgttataaaGgtaagaatcgtgatttagaa	10	5	1	3			TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:85969723G>T	ENST00000373125.4	+	6	1104	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N	DACH2_ENST00000508860.1_Splice_Site_p.K201N|DACH2_ENST00000510272.1_Splice_Site_p.K149N|DACH2_ENST00000373131.1_Splice_Site_p.K355N	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	368					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						CTGTTATAAAGGTAAGAATCG	0.393																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.e5+1		dachshund homolog 2 (Drosophila)							68	59	62					X																	85969723		2203	4300	6503	SO:0001630	splice_region_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85969723G>T	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.1104+1G>T	X.37:g.85969723G>T						DACH2_ENST00000510272.1_Splice_Site_p.K149_splice|DACH2_ENST00000373125.4_Splice_Site_p.K368_splice|DACH2_ENST00000508860.1_Splice_Site_p.K201_splice	p.K355_splice	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			5	1228	+			368					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Splice_Site	SNP	ENST00000373125.4	37	c.1065_splice	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984771	0.74474	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.85556	-2.0;-2.0	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000003	D	0.90841	0.7123	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.998;0.993	P;P;D;D	0.71184	0.893;0.883;0.972;0.909	D	0.91059	0.4884	10	0.48119	T	0.1	.	17.3486	0.87316	0.0:0.0:1.0:0.0	.	234;368;355;368	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	N	368;355;368;201;149;201;23	ENSP00000362223:K355N;ENSP00000362217:K368N	ENSP00000345134:K368N	K	+	3	2	DACH2	85856379	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	8.894000	0.92506	2.021000	0.59480	0.422000	0.28245	AAG		0.393	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	Missense_Mutation	33	357	1	0	1.62565e-12	1	1.73959e-12	33	357					T	85969723	G	T	85969723	5	4	85	1	0	0	0	0	0	0	1	0	4232	1014	35	3	1126	3	DACH2	23	85969723	Splice_Site	SNP	G	TCGA-IB-A5SQ-01A-11D-A32N-08	31012396	85969723	69300837	166	32900											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3-AS1_ENST00000454228.1_RNA|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		10	1043						10	1043	---	---	---	---	-	100880154	TGA	-	100880152	7	5	85	1	0	1	0	1	0	0	0	0	962	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-IB-A5SQ-01A-11D-A32N-08	14910429	100880152	54390408	167	32901											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-IB-A5SQ-01A-11D-A32N-08	TCGA-IB-A5SQ-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be12fc83-9cc8-46c6-a210-1fd4e3410bb4	c2c7839f-87cb-4d5f-8089-7b0174efccd9	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171	156	161					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	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.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		9	1137						9	1137	---	---	---	---	-	108619355	T	-	108619355	7	5	85	1	0	1	0	1	0	0	0	0	6928	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-IB-A5SQ-01A-11D-A32N-08	7739203	108619355	46651205	168	32902											
ATP13A2	23400	broad.mit.edu	37	chr1	17322564	17322564	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcagtcggctctgggcGtagagcgtgcacacagtcat	13	13	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:17322564G>A	ENST00000326735.8	-	15	1482	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	ATP13A2_ENST00000341676.5_Silent_p.Y478Y|ATP13A2_ENST00000452699.1_Silent_p.Y478Y|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR			Q9NQ11	AT132_HUMAN	ATPase type 13A2	483					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCTCTGGGCGTAGAGCGTGC	0.622																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1432-1434)taC>taT		ATPase type 13A2							97	102	100					1																	17322564		2203	4300	6503	SO:0001819	synonymous_variant	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322564G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1449C>T	1.37:g.17322564G>A						ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.Y478Y|ATP13A2_ENST00000326735.8_Silent_p.Y483Y	p.Y478Y	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	15	1623	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	483					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	c.1434C>T	CCDS175.1																																																																																				0.622	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		5	511	0	0	0	1	0	5	511					A	17322564	G	A	17322564	2	1	86	1	0	0	0	0	0	0	0	1	1125	1140	40	1		1	ATP13A2	1	17322564	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		17322564	231928057	1	32903											
WNT4	54361	broad.mit.edu	37	chr1	22446807	22446807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaggtcctcatctgtgtgCggcttgaactgtgcgttgcg	13	11	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:22446807C>T	ENST00000290167.6	-	5	835	c.792G>A	c.(790-792)ccG>ccA	p.P264P	WNT4_ENST00000542383.1_Silent_p.P209P	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	264					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)	p.P264P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CATCTGTGTGCGGCTTGAACT	0.632																																						ENST00000290167.6																			1	Substitution - coding silent(1)	p.P264P(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(790-792)ccG>ccA		wingless-type MMTV integration site family, member 4							155	130	139					1																	22446807		2203	4300	6503	SO:0001819	synonymous_variant	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22446807C>T	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"Wingless-type MMTV integration sites", "Endogenous ligands"	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.792G>A	1.37:g.22446807C>T						WNT4_ENST00000542383.1_Silent_p.P209P	p.P264P	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	5	835	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	264					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	c.792G>A	CCDS223.1																																																																																				0.632	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			5	452	0	0	0	1	0	5	452					T	22446807	C	T	22446807	2	4	86	1	0	0	0	0	0	0	0	1	17444	755	27	1		1	WNT4	1	22446807	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	5124243	22446807	226803814	2	32904											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	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.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	424						8	424	---	---	---	---	-	44071948	GCG	-	44071946	7	5	86	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-A5SS-01A-11D-A32N-08	21625139	44071946	205178675	3	32905											
LPAR3	23566	broad.mit.edu	37	chr1	85279562	85279562	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttattgcagactgcaccttgGctaatactatcctctatgta	6	10	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:85279562G>C	ENST00000440886.1	-	2	1067	c.1029C>G	c.(1027-1029)agC>agG	p.S343R	LPAR3_ENST00000491034.1_5'Flank|LPAR3_ENST00000370611.3_Missense_Mutation_p.S343R			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	343					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CTGCACCTTGGCTAATACTAT	0.532																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(1027-1029)agC>agG		lysophosphatidic acid receptor 3							100	91	94					1																	85279562		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85279562G>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.1029C>G	1.37:g.85279562G>C	ENSP00000395389:p.Ser343Arg					LPAR3_ENST00000370611.3_Missense_Mutation_p.S343R	p.S343R			Q9UBY5	LPAR3_HUMAN			2	1067	-			343					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.1029C>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465648	0.26335	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.74421	-0.84;-0.84	5.85	3.99	0.46301	.	0.513877	0.21711	N	0.070278	T	0.35422	0.0931	N	0.14661	0.345	0.36935	D	0.892083	B	0.19583	0.037	B	0.14023	0.01	T	0.10451	-1.0629	10	0.21540	T	0.41	.	9.1901	0.37193	0.2425:0.0:0.7575:0.0	.	343	Q9UBY5	LPAR3_HUMAN	R	343	ENSP00000395389:S343R;ENSP00000359643:S343R	ENSP00000359643:S343R	S	-	3	2	LPAR3	85052150	1.000000	0.71417	0.087000	0.20705	0.257000	0.26127	1.974000	0.40559	0.824000	0.34613	0.650000	0.86243	AGC		0.532	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		4	122	0	0	0	1	0	4	122					C	85279562	G	C	85279562	3	2	86	1	0	0	0	0	1	0	0	0	8944	1194	42	5	36	5	LPAR3	1	85279562	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	41207616	85279562	163971059	4	32906											
CRNN	49860	broad.mit.edu	37	chr1	152382520	152382520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctgcctgtatctgagtGtgtcctcctgtcacagcctg	10	14	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:152382520G>A	ENST00000271835.3	-	3	1100	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	346	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTATCTGAGTGTGTCCTCCTG	0.597																																						ENST00000271835.3																			0				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						c.(1036-1038)caC>caT		cornulin							234	198	210					1																	152382520		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382520G>A	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.1038C>T	1.37:g.152382520G>A						RP1-91G5.3_ENST00000411804.1_RNA	p.H346H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1100	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		346			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1038C>T	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		6	739	0	0	0	1	0	6	739					A	152382520	G	A	152382520	2	1	86	1	0	0	0	0	0	0	0	1	3901	1368	48	2		2	CRNN	1	152382520	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	67102958	152382520	96868101	5	32907											
SH2D2A	9047	broad.mit.edu	37	chr1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcgggtgggggctggTggggcaggggagggccttgc	24	8	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	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	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16	18	17					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	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.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		8	61	0	0	0	1	0	8	61					G	156777073	T	G	156777073	3	3	86	1	0	0	0	0	1	0	0	0	14282	1696	59	4	106	4	SH2D2A	1	156777073	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	4394553	156777073	92473548	6	32908											
F5	2153	broad.mit.edu	37	chr1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaaaggtttgtctgaCtgagttctggagagagagtc	16	5	2	4			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:169510405C>A	ENST00000367797.3	-	13	4124	c.3923G>T	c.(3922-3924)aGt>aTt	p.S1308I	F5_ENST00000367796.3_Missense_Mutation_p.S1313I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3937-3939)aGt>aTt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						272	296	288					1																	169510405		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510405C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3923G>T	1.37:g.169510405C>A	ENSP00000356771:p.Ser1308Ile					F5_ENST00000367797.3_Missense_Mutation_p.S1308I	p.S1313I			P12259	FA5_HUMAN			13	4139	-	all_hematologic(923;0.208)		1308			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3938G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864337	0.32977	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	3.21	-2.1	0.07210	.	1.723450	0.02512	N	0.091650	T	0.13372	0.0324	L	0.55990	1.75	0.22199	N	0.999294	P	0.45283	0.855	B	0.38327	0.271	T	0.14008	-1.0488	9	0.40728	T	0.16	.	5.0898	0.14702	0.0:0.4556:0.315:0.2294	.	1308	P12259	FA5_HUMAN	I	1308;1313	ENSP00000356771:S1308I;ENSP00000356770:S1313I	ENSP00000356770:S1313I	S	-	2	0	F5	167777029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.937000	0.00685	-0.282000	0.09128	0.542000	0.68232	AGT		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		7	1153	1	0	0.000274275	1	0.000297388	7	1153					A	169510405	C	A	169510405	3	1	86	1	0	0	0	0	1	0	0	0	5366	565	20	3	2803	3	F5	1	169510405	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	12733332	169510405	79740216	7	32909											
VAMP4	8674	broad.mit.edu	37	chr1	171679889	171679889	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttcatctagtctctcccctCtctcaattacctttgtaata	3	13	5	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:171679889C>G	ENST00000236192.7	-	5	616	c.230G>C	c.(229-231)aGa>aCa	p.R77T	VAMP4_ENST00000482519.1_Intron|VAMP4_ENST00000415773.1_Missense_Mutation_p.R76T|VAMP4_ENST00000367740.2_Missense_Mutation_p.R76T	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	77	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCTCTCCCCTCTCTCAATTAC	0.323																																						ENST00000236192.7																			0				large_intestine(4)	4						c.(229-231)aGa>aCa		vesicle-associated membrane protein 4							235	226	229					1																	171679889		2203	4299	6502	SO:0001583	missense	8674				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome		g.chr1:171679889C>G	AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"Vesicle-associated membrane proteins"	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.230G>C	1.37:g.171679889C>G	ENSP00000236192:p.Arg77Thr					VAMP4_ENST00000482519.1_Intron|VAMP4_ENST00000367740.2_Missense_Mutation_p.R76T|VAMP4_ENST00000415773.1_Missense_Mutation_p.R76T	p.R77T	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN			5	616	-	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		77			v-SNARE coiled-coil homology.		A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	ENST00000236192.7	37	c.230G>C	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302646	0.81136	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	T;T;T	0.53423	0.62;0.62;0.62	6.17	5.27	0.74061	Synaptobrevin (4);	0.040870	0.85682	D	0.000000	T	0.72732	0.3497	H	0.95151	3.63	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.72982	0.925;0.979	T	0.82946	-0.0205	10	0.87932	D	0	.	15.2816	0.73790	0.0:0.9327:0.0:0.0673	.	76;77	O75379-2;O75379	.;VAMP4_HUMAN	T	77;76;76	ENSP00000236192:R77T;ENSP00000415627:R76T;ENSP00000356714:R76T	ENSP00000236192:R77T	R	-	2	0	VAMP4	169946512	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.420000	0.73349	1.632000	0.50472	-0.140000	0.14226	AGA		0.323	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762		5	318	0	0	0	1	0	5	318					G	171679889	C	G	171679889	3	3	86	1	0	0	0	0	1	0	0	0	17169	913	32	5	211	5	VAMP4	1	171679889	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	2169484	171679889	77570732	8	32910											
ASTN1	460	broad.mit.edu	37	chr1	176926840	176926840	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagtggagtccagcttgcGatctgaaatacagcggaaat	11	9	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:176926840G>A	ENST00000367654.3	-	11	2096	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	629	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						TCCAGCTTGCGATCTGAAATA	0.537																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1885-1887)Cgc>Tgc		astrotactin 1							85	81	83					1																	176926840		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176926840G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1885C>T	1.37:g.176926840G>A	ENSP00000356626:p.Arg629Cys					ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C|ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR	p.R629C			O14525	ASTN1_HUMAN			11	1898	-			629			EGF-like 2.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1885C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.191818	0.94923	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87571	-2.27;-2.27;2.64;-2.27	5.58	5.58	0.84498	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.90363	0.6984	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.992	D	0.91468	0.5194	10	0.87932	D	0	-28.5238	19.1684	0.93567	0.0:0.0:1.0:0.0	.	629;621;621	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	C	621;621;629;621;621	ENSP00000356629:R621C;ENSP00000354536:R621C;ENSP00000356626:R629C;ENSP00000395041:R621C	ENSP00000354536:R621C	R	-	1	0	ASTN1	175193463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.618000	0.88619	0.563000	0.77884	CGC		0.537	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		67	171	0	0	0	1	0	67	171					A	176926840	G	A	176926840	3	1	86	1	0	0	0	0	1	0	0	0	1065	1058	37	1	2079	1	ASTN1	1	176926840	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	5246951	176926840	72323781	9	32911											
PRG4	10216	broad.mit.edu	37	chr1	186276027	186276027	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaagtctgcacccaccacTcccaaggagcctgcacccac	6	20	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:186276027T>C	ENST00000445192.2	+	7	1221	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367485.4_Silent_p.T299T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	392	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						CACCCACCACTCCCAAGGAGC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1174-1176)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276027T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1176T>C	1.37:g.186276027T>C						PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T	p.T392T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1221	+			392			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1176T>C	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	500	0	0	0	1	0	8	500					C	186276027	T	C	186276027	2	2	86	1	0	0	0	0	0	0	0	1	12528	1538	54	4		4	PRG4	1	186276027	Silent	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	9349187	186276027	62974594	10	32912											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		7	134						7	134	---	---	---	---	-	200842778	TGC	-	200842776	7	5	86	1	0	1	0	1	0	0	0	0	6712	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-IB-A5SS-01A-11D-A32N-08	14566749	200842776	48407845	11	32913											
HLX	3142	broad.mit.edu	37	chr1	221057751	221057751	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacatggcccccagcgacaCggagcggactgaggggagtg	18	11	0	1	rs199521070		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:221057751C>T	ENST00000366903.6	+	4	2673	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	HLX_ENST00000549319.1_Missense_Mutation_p.T177M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	391	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCCAGCGACACGGAGCGGACT	0.642																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1171-1173)aCg>aTg		H2.0-like homeobox							59	52	55					1																	221057751		2203	4300	6503	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057751C>T	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.1172C>T	1.37:g.221057751C>T	ENSP00000355870:p.Thr391Met					HLX_ENST00000549319.1_Missense_Mutation_p.T177M	p.T391M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2673	+			391			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.1172C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952214	0.53293	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;T;T	0.90385	-2.66;0.51;3.29	5.03	4.09	0.47781	.	0.247697	0.27811	N	0.017749	D	0.84174	0.5414	N	0.24115	0.695	0.09310	N	1	P	0.48640	0.913	B	0.43809	0.432	T	0.77587	-0.2532	10	0.66056	D	0.02	-14.4125	9.6566	0.39930	0.1598:0.6859:0.1543:0.0	.	391	Q14774	HLX_HUMAN	M	391;124;177	ENSP00000355870:T391M;ENSP00000408248:T124M;ENSP00000449882:T177M	ENSP00000355870:T391M	T	+	2	0	HLX	219124374	0.977000	0.34250	0.038000	0.18304	0.737000	0.42083	2.102000	0.41796	1.207000	0.43291	0.561000	0.74099	ACG		0.642	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		59	165	0	0	0	1	0	59	165					T	221057751	C	T	221057751	3	4	86	1	0	0	0	0	1	0	0	0	7246	536	19	1	1186	1	HLX	1	221057751	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	20214975	221057751	28192870	12	32914											
ACBD3	64746	broad.mit.edu	37	chr1	226352490	226352491	+	Splice_Site	INS	-	-	T													ccatgccctcaaacttcaccINStttttttttcttgctcttcc							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.568_569insA	c.(568-570)agg>aAgg	p.R190fs		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e3+1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226352490_226352491insT	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.569+1->A	1.37:g.226352499_226352499dupT							p.E190_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	3	622_623	-	Breast(184;0.158)		190			Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	INS	ENST00000366812.5	37	c.569_splice	CCDS1551.1																																																																																				0.411	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Frame_Shift_Ins	8	238						8	238	---	---	---	---	T	226352491	-	T	226352490	8	5	86	1	0	1	1	0	0	0	1	0	123	695	24	0	1041	0	ACBD3	1	226352490	Splice_Site	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	5294739	226352490	22898131	13	32915											
OR2G6	391211	broad.mit.edu	37	chr1	248685733	248685733	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattcatgtaccttcaaccGgccaataggagatccaaaaa	6	10	2	1	rs531426431	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:248685733G>A	ENST00000343414.4	+	1	818	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	262						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)			ACCTTCAACCGGCCAATAGGA	0.448																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(784-786)ccG>ccA		olfactory receptor, family 2, subfamily G, member 6							109	111	110					1																	248685733		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685733G>A		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.786G>A	1.37:g.248685733G>A							p.P262P	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	818	+	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)	262					B2RP33	Silent	SNP	ENST00000343414.4	37	c.786G>A	CCDS31119.1																																																																																				0.448	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		5	283	0	0	0	1	0	5	283					A	248685733	G	A	248685733	2	1	86	1	0	0	0	0	0	0	0	1	11042	1103	39	1		1	OR2G6	1	248685733	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	22333243	248685733	564888	14	32916											
VWA3B	200403	broad.mit.edu	37	chr2	98914394	98914394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaagtgtgtgagccGcacccaagcactggtgggct	15	9	0	3	rs146321928		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:98914394G>A	ENST00000477737.1	+	24	3386	c.3182G>A	c.(3181-3183)cGc>cAc	p.R1061H	VWA3B_ENST00000490947.2_3'UTR|AC092675.1_ENST00000401293.1_RNA	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1061										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGTGAGCCGCACCCAAGCA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19816	0.0		0.001	False		,,,				2504	0.0					ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(3181-3183)cGc>cAc		von Willebrand factor A domain containing 3B							86	90	88					2																	98914394		2014	4166	6180	SO:0001583	missense	200403							g.chr2:98914394G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3182G>A	2.37:g.98914394G>A	ENSP00000417955:p.Arg1061His					VWA3B_ENST00000490947.2_3'UTR	p.R1061H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			24	3386	+			1061					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3182G>A	CCDS42718.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.890	0.732062	0.15507	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.23147	1.92	4.93	-0.398	0.12418	.	750.824000	0.00166	N	0.000000	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.32455	-0.9906	10	0.56958	D	0.05	.	8.6816	0.34212	0.2741:0.4468:0.279:0.0	.	453;1061	Q502W6-5;Q502W6	.;VWA3B_HUMAN	H	1061;183	ENSP00000417955:R1061H	ENSP00000351009:R183H	R	+	2	0	VWA3B	98280826	0.000000	0.05858	0.093000	0.20910	0.314000	0.28054	0.066000	0.14489	0.036000	0.15547	-0.151000	0.13558	CGC		0.532	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		5	237	0	0	0	1	0	5	237					A	98914394	G	A	98914394	3	1	86	1	0	0	0	0	1	0	0	0	17295	1087	38	1	3272	1	VWA3B	2	98914394	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		98914394	144284979	15	32917											
TTN	7273	broad.mit.edu	37	chr2	179453342	179453342	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcattttctgccttgacaCggaactgatattcatggtct	7	9	4	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:179453342C>A	ENST00000591111.1	-	254	58411	c.58187G>T	c.(58186-58188)cGt>cTt	p.R19396L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12164L|TTN_ENST00000589042.1_Missense_Mutation_p.R21037L|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18469L|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12097L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11972L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19396	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)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_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)			TGCCTTGACACGGAACTGATA	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63109-63111)cGt>cTt		titin							222	209	213					2																	179453342		1913	4127	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453342C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58187G>T	2.37:g.179453342C>A	ENSP00000465570:p.Arg19396Leu					TTN_ENST00000342992.6_Missense_Mutation_p.R18469L|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11972L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12097L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12164L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19396L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA	p.R21037L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	63334	-			19396			Fibronectin type-III 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63110G>T		.	.	.	.	.	.	.	.	.	.	C	16.26	3.074053	0.55646	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84261	0.5433	H	0.94771	3.58	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	0.87010	0.2122	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	11972;12097;12164;19396	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	18469;11972;12164;12097;11970	ENSP00000343764:R18469L;ENSP00000434586:R11972L;ENSP00000340554:R12164L;ENSP00000352154:R12097L	ENSP00000340554:R12164L	R	-	2	0	TTN	179161588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	CGT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	537	1	0	0.184627	1	0.191576	5	537					A	179453342	C	A	179453342	3	1	86	1	0	0	0	0	1	0	0	0	16789	536	19	3	45105	3	TTN	2	179453342	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	80538948	179453342	63746031	16	32918											
CXCR2	3579	broad.mit.edu	37	chr2	219000390	219000390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagacctgtgagcgccGcaatcacatcgaccgggctc	12	15	1	2	rs186640530		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:219000390G>A	ENST00000318507.2	+	3	1293	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	289					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						TGTGAGCGCCGCAATCACATC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19234	0.001		0.0	False		,,,				2504	0.0					ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(865-867)cGc>cAc		chemokine (C-X-C motif) receptor 2							83	78	79					2																	219000390		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000390G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.866G>A	2.37:g.219000390G>A	ENSP00000319635:p.Arg289His						p.R289H	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1293	+			289					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.866G>A	CCDS2408.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.03	2.114961	0.37339	.	.	ENSG00000180871	ENST00000318507	T	0.37411	1.2	5.36	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.057955	0.64402	D	0.000006	T	0.48502	0.1503	M	0.70108	2.13	0.09310	N	0.999998	P	0.38767	0.646	P	0.50231	0.635	T	0.40440	-0.9563	9	.	.	.	.	9.7981	0.40748	0.1635:0.0:0.8365:0.0	.	289	P25025	CXCR2_HUMAN	H	289	ENSP00000319635:R289H	.	R	+	2	0	CXCR2	218708635	0.930000	0.31532	0.358000	0.25811	0.045000	0.14185	3.615000	0.54167	1.243000	0.43853	0.456000	0.33151	CGC		0.597	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		5	300	0	0	0	1	0	5	300					A	219000390	G	A	219000390	3	1	86	1	0	0	0	0	1	0	0	0	4102	1087	38	1	868	1	CXCR2	2	219000390	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	39547048	219000390	24198983	17	32919											
GADL1	339896	broad.mit.edu	37	chr3	30875345	30875345	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accacaagaggaaaacttacAgatttgtctttcacaaggag	8	8	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:30875345A>T	ENST00000282538.5	-	11	1200	c.1050T>A	c.(1048-1050)tcT>tcA	p.S350S	GADL1_ENST00000454381.3_Splice_Site_p.S350S	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	350					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GAAAACTTACAGATTTGTCTT	0.502																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.e11+1		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						72	68	70					3																	30875345		2203	4300	6503	SO:0001630	splice_region_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30875345A>T	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.1050+1T>A	3.37:g.30875345A>T						GADL1_ENST00000282538.5_Splice_Site_p.S350_splice	p.S350_splice			Q6ZQY3	GADL1_HUMAN			11	1096	-			350						Splice_Site	SNP	ENST00000282538.5	37	c.1050_splice	CCDS2649.2																																																																																				0.502	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	Silent	32	125	0	0	0	1	0	32	125					T	30875345	A	T	30875345	5	4	86	1	0	0	0	0	0	0	1	0	6212	202	7	5	535	5	GADL1	3	30875345	Splice_Site	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08		30875345	167147085	18	32920											
FYCO1	79443	broad.mit.edu	37	chr3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcatctcctgggccGcatcactgggaataggttct	11	13	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1186-1188)gCg>gTg		FYVE and coiled-coil domain containing 1							164	166	166					3																	46009639		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009639G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1187C>T	3.37:g.46009639G>A	ENSP00000296137:p.Ala396Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1392	-			396					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1187C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185135	0.06340	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.03	4.72	3.29	0.37713	.	0.235442	0.37136	N	0.002234	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25363	-1.0134	10	0.38643	T	0.18	-0.0765	9.3123	0.37912	0.1481:0.0:0.8519:0.0	.	396;396	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	396	ENSP00000296137:A396V;ENSP00000441178:A396V	ENSP00000296137:A396V	A	-	2	0	FYCO1	45984643	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.032000	0.30178	0.815000	0.34398	0.655000	0.94253	GCG		0.567	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		7	817	0	0	0	1	0	7	817					A	46009639	G	A	46009639	3	1	86	1	0	0	0	0	1	0	0	0	6152	1087	38	1	3293	1	FYCO1	3	46009639	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	15134294	46009639	152012791	19	32921											
CNTN3	5067	broad.mit.edu	37	chr3	74351867	74351867	+	Nonsense_Mutation	SNP	G	G	T													ctatgaggtcagcagcagatGaaacactgtccacccccgtt							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351867G>T	ENST00000263665.6	-	13	1787	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	587	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AGCAGCAGATGAAACACTGTC	0.418																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1759-1761)tCa>tAa		contactin 3 (plasmacytoma associated)							118	100	106					3																	74351867		2203	4300	6503	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74351867G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1760C>A	3.37:g.74351867G>T	ENSP00000263665:p.Ser587*						p.S587*	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	13	1787	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	587			Ig-like C2-type 6.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.1760C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	38	6.834241	0.97873	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.08	5.08	0.68730	.	0.136971	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	.	.	.	X	587	.	ENSP00000263665:S587X	S	-	2	0	CNTN3	74434557	1.000000	0.71417	0.403000	0.26384	0.815000	0.46073	6.862000	0.75484	2.523000	0.85059	0.585000	0.79938	TCA		0.418	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		26	80	1	0	6.32553e-13	1	7.26683e-13	26	80					T	74351867	G	T	74351867	4	4	86	1	0	0	0	0	0	1	0	0	3651	1294	45	3	1366	3	CNTN3	3	74351867	Nonsense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	28342228	74351867	123670563	20	32922	213	2									
CNTN3	5067	broad.mit.edu	37	chr3	74351868	74351868	+	Missense_Mutation	SNP	A	A	T													tatgaggtcagcagcagatgAaacactgtccacccccgttt							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351868A>T	ENST00000263665.6	-	13	1786	c.1759T>A	c.(1759-1761)Tca>Aca	p.S587T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	587	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCAGCAGATGAAACACTGTCC	0.418																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1759-1761)Tca>Aca		contactin 3 (plasmacytoma associated)							119	101	107					3																	74351868		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74351868A>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1759T>A	3.37:g.74351868A>T	ENSP00000263665:p.Ser587Thr						p.S587T	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	13	1786	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	587			Ig-like C2-type 6.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1759T>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425150	0.62733	.	.	ENSG00000113805	ENST00000263665	T	0.64991	-0.13	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.136971	0.51477	D	0.000086	T	0.60702	0.2289	L	0.53249	1.67	0.46749	D	0.999185	P	0.35192	0.489	B	0.41691	0.364	T	0.60806	-0.7190	10	0.38643	T	0.18	.	10.7556	0.46234	0.8287:0.1713:0.0:0.0	.	587	Q9P232	CNTN3_HUMAN	T	587	ENSP00000263665:S587T	ENSP00000263665:S587T	S	-	1	0	CNTN3	74434558	1.000000	0.71417	0.433000	0.26760	0.861000	0.49209	4.988000	0.63863	2.039000	0.60335	0.477000	0.44152	TCA		0.418	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		26	81	0	0	0	1	0	26	81					T	74351868	A	T	74351868	3	4	86	1	0	0	0	0	1	0	0	0	3651	246	9	5	1367	5	CNTN3	3	74351868	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	1	74351868	123670562	21	32923	213	2									
SENP7	57337	broad.mit.edu	37	chr3	101231946	101231946	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctttctcaccggatgaagatGgccgtcgcccgagctttctc	10	14	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:101231946G>C	ENST00000394095.2	-	1	82	c.29C>G	c.(28-30)cCa>cGa	p.P10R	SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000394094.2_Missense_Mutation_p.P10R|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.P10R|SENP7_ENST00000358203.3_5'UTR	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	10						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						GGATGAAGATGGCCGTCGCCC	0.617																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(28-30)cCa>cGa		SUMO1/sentrin specific peptidase 7							98	99	99					3																	101231946		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101231946G>C		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.29C>G	3.37:g.101231946G>C	ENSP00000377655:p.Pro10Arg					SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.P10R|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000394094.2_Missense_Mutation_p.P10R|SENP7_ENST00000348610.3_5'UTR	p.P10R	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			1	82	-			10					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.29C>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801722	0.02841	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261	T;T;T	0.16743	2.32;2.53;2.52	4.34	3.46	0.39613	.	.	.	.	.	T	0.06371	0.0164	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19418	-1.0306	9	0.02654	T	1	0.0054	10.2124	0.43150	0.0:0.7844:0.2156:0.0	.	10;10	Q9BQF6-5;Q9BQF6	.;SENP7_HUMAN	R	10	ENSP00000377655:P10R;ENSP00000377654:P10R;ENSP00000313624:P10R	ENSP00000313624:P10R	P	-	2	0	SENP7	102714636	0.958000	0.32768	0.889000	0.34880	0.123000	0.20343	1.835000	0.39181	1.155000	0.42497	-0.165000	0.13383	CCA		0.617	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		6	600	0	0	0	1	0	6	600					C	101231946	G	C	101231946	3	2	86	1	0	0	0	0	1	0	0	0	14101	1348	47	5	3219	5	SENP7	3	101231946	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	26880078	101231946	96790484	22	32924											
CPNE4	131034	broad.mit.edu	37	chr3	131261421	131261421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttgaagttcctgaaggGcacgaactggacgatgtctc	13	8	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:131261421G>A	ENST00000512055.1	-	19	3645	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	CPNE4_ENST00000512332.1_Missense_Mutation_p.P525S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P525S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P507S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P507S			Q96A23	CPNE4_HUMAN	copine IV	507	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTCCTGAAGGGCACGAACTGG	0.502																																						ENST00000512055.1																			0				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						c.(1519-1521)Ccc>Tcc		copine IV							128	117	121					3																	131261421		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261421G>A	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.1519C>T	3.37:g.131261421G>A	ENSP00000421705:p.Pro507Ser					CPNE4_ENST00000429747.1_Missense_Mutation_p.P507S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P525S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P507S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P525S	p.P507S			Q96A23	CPNE4_HUMAN			19	3645	-			507			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1519C>T	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496921	0.85069	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.56103	0.49;0.49;0.48;0.49;0.48	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.991;0.992	T	0.79342	-0.1843	10	0.56958	D	0.05	-17.478	19.3471	0.94367	0.0:0.0:1.0:0.0	.	525;507	Q96A23-2;Q96A23	.;CPNE4_HUMAN	S	507;507;525;507;525	ENSP00000421705:P507S;ENSP00000411904:P507S;ENSP00000424853:P525S;ENSP00000423811:P507S;ENSP00000421646:P525S	ENSP00000411904:P507S	P	-	1	0	CPNE4	132744111	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.624000	0.98398	2.566000	0.86566	0.655000	0.94253	CCC		0.502	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		5	222	0	0	0	1	0	5	222					A	131261421	G	A	131261421	3	1	86	1	0	0	0	0	1	0	0	0	3823	1203	42	2	162	2	CPNE4	3	131261421	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	30029475	131261421	66761009	23	32925											
PIK3CB	5291	broad.mit.edu	37	chr3	138382857	138382857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtaaattcctcaatggctCggtccaggtcatccctgaac	9	12	2	1	rs142933486	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:138382857C>T	ENST00000477593.1	-	20	2760	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	PIK3CB_ENST00000544716.1_Missense_Mutation_p.R347Q|PIK3CB_ENST00000289153.2_Missense_Mutation_p.R896Q			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	896	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTCAATGGCTCGGTCCAGGTC	0.448																																						ENST00000477593.1																			0				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						c.(2686-2688)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							80	71	74					3																	138382857		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138382857C>T		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.2687G>A	3.37:g.138382857C>T	ENSP00000418143:p.Arg896Gln					PIK3CB_ENST00000289153.2_Missense_Mutation_p.R896Q|PIK3CB_ENST00000544716.1_Missense_Mutation_p.R347Q	p.R896Q			P42338	PK3CB_HUMAN			20	2760	-			896			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.2687G>A	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.04|17.04	3.286996|3.286996	0.59867|0.59867	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000544716;ENST00000289153	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63640|0.63640	0.2528|0.2528	L|L	0.31207|0.31207	0.915|0.915	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B;B	.|0.33379	.|0.269;0.178;0.41	.|B;B;B	.|0.24541	.|0.041;0.044;0.054	T|T	0.60662|0.60662	-0.7219|-0.7219	5|10	.|0.28530	.|T	.|0.3	-11.8261|-11.8261	20.0442|20.0442	0.97604|0.97604	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|896;483;347	.|P42338;B4DZI3;Q68DL0	.|PK3CB_HUMAN;.;.	K|Q	528|896;347;896	.|ENSP00000418143:R896Q;ENSP00000438259:R347Q;ENSP00000289153:R896Q	.|ENSP00000289153:R896Q	E|R	-|-	1|2	0|0	PIK3CB|PIK3CB	139865547|139865547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.138000|3.138000	0.50570|0.50570	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.448	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			28	99	0	0	0	1	0	28	99					T	138382857	C	T	138382857	3	4	86	1	0	0	0	0	1	0	0	0	11956	884	31	1	539	1	PIK3CB	3	138382857	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	7121436	138382857	59639573	24	32926											
DVL3	1857	broad.mit.edu	37	chr3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcaccttccctgcatacgGcatgagcccctccctgagca	9	18	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:183884692G>A	ENST00000313143.3	+	11	1375	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G359D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	376					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCATACGGCATGAGCCCC	0.647																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1126-1128)gGc>gAc		dishevelled segment polarity protein 3							127	119	122					3																	183884692		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183884692G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1127G>A	3.37:g.183884692G>A	ENSP00000316054:p.Gly376Asp					EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.G359D	p.G376D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		11	1375	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		376					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1127G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398229	0.83120	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04156	3.71;3.69	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.68593	2.085	0.80722	D	1	P;P;B;D	0.57257	0.94;0.94;0.232;0.979	P;P;B;P	0.55222	0.694;0.76;0.113;0.771	T	0.00172	-1.1958	10	0.33141	T	0.24	-34.8595	20.4387	0.99107	0.0:0.0:1.0:0.0	.	359;208;376;376	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	D	376;376;359	ENSP00000316054:G376D;ENSP00000405885:G359D	ENSP00000316054:G376D	G	+	2	0	DVL3	185367386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.836000	0.97738	0.655000	0.94253	GGC		0.647	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		6	462	0	0	0	1	0	6	462					A	183884692	G	A	183884692	3	1	86	1	0	0	0	0	1	0	0	0	4853	1203	42	2	1169	2	DVL3	3	183884692	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	45501835	183884692	14137738	25	32927											
TBC1D1	23216	broad.mit.edu	37	chr4	38022213	38022213	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttctctccctttggcaggGcatcagacacgtggaccact	10	14	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:38022213G>A	ENST00000261439.4	+	5	1329	c.974G>A	c.(973-975)gGc>gAc	p.G325D	TBC1D1_ENST00000508802.1_Splice_Site_p.G325D	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	325	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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						CTTTGGCAGGGCATCAGACAC	0.458																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.e5-1		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							270	259	263					4																	38022213		2203	4300	6503	SO:0001630	splice_region_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38022213G>A	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.973-1G>A	4.37:g.38022213G>A						TBC1D1_ENST00000508802.1_Splice_Site_p.G325_splice	p.G325_splice	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			5	1329	+			325			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Splice_Site	SNP	ENST00000261439.4	37	c.972_splice	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905016	0.92035	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.14266	2.52;2.52;2.52	5.48	5.48	0.80851	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.51477	D	0.000095	T	0.36054	0.0953	L	0.54908	1.71	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	0.03555	-1.1025	10	0.87932	D	0	-20.7573	19.3503	0.94381	0.0:0.0:1.0:0.0	.	325;325;325	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	D	325;325;196	ENSP00000423651:G325D;ENSP00000261439:G325D;ENSP00000396877:G196D	ENSP00000261439:G325D	G	+	2	0	TBC1D1	37698608	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.730000	0.98797	2.576000	0.86940	0.467000	0.42956	GGC		0.458	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	Missense_Mutation	6	697	0	0	0	1	0	6	697					A	38022213	G	A	38022213	5	1	86	1	0	0	0	0	0	0	1	0	15649	1217	42	2	988	2	TBC1D1	4	38022213	Splice_Site	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		38022213	153132063	26	32928											
SLC45A2	51151	broad.mit.edu	37	chr5	33984521	33984521	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acgctgagcaggactggggtCacatacgctgcctccaccgc	12	15	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:33984521C>G	ENST00000296589.4	-	1	314	c.168G>C	c.(166-168)gtG>gtC	p.V56V	SLC45A2_ENST00000345083.5_Silent_p.V56V|SLC45A2_ENST00000509381.1_Silent_p.V56V|SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000382102.3_Silent_p.V56V	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	56					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGACTGGGGTCACATACGCTG	0.592																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(166-168)gtG>gtC		solute carrier family 45, member 2							63	52	56					5																	33984521		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984521C>G	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.168G>C	5.37:g.33984521C>G						SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000296589.4_Silent_p.V56V|SLC45A2_ENST00000509381.1_Silent_p.V56V|SLC45A2_ENST00000345083.5_Silent_p.V56V	p.V56V	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			1	225	-			56					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.168G>C	CCDS3901.1																																																																																				0.592	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		16	52	0	0	0	1	0	16	52					G	33984521	C	G	33984521	2	3	86	1	0	0	0	0	0	0	0	1	14691	813	29	5		5	SLC45A2	5	33984521	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		33984521	146930739	27	32929											
TMEM161B	153396	broad.mit.edu	37	chr5	87502295	87502295	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagaaactgcatcgcaCtgtctgaaaaatttgtaaac	6	8	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:87502295C>A	ENST00000296595.6	-	7	744	c.620G>T	c.(619-621)aGt>aTt	p.S207I	TMEM161B_ENST00000506536.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I|TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	207						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CTGCATCGCACTGTCTGAAAA	0.279																																						ENST00000296595.6																			0				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20						c.(619-621)aGt>aTt		transmembrane protein 161B							13	15	14					5																	87502295		2174	4261	6435	SO:0001583	missense	153396					integral to membrane		g.chr5:87502295C>A	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.620G>T	5.37:g.87502295C>A	ENSP00000296595:p.Ser207Ile					TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I|TMEM161B_ENST00000506536.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I	p.S207I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	7	744	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	207					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.620G>T	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891151	0.52014	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000511218;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.51	3.71	0.42584	.	0.186558	0.64402	D	0.000002	T	0.67382	0.2887	M	0.67397	2.05	0.80722	D	1	B;B	0.33044	0.083;0.395	P;B	0.44860	0.462;0.164	T	0.70550	-0.4841	9	0.72032	D	0.01	-7.8376	10.9255	0.47189	0.0:0.7979:0.1312:0.0709	.	25;207	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	I	207;207;25;25;196;207;80	.	ENSP00000296595:S207I	S	-	2	0	TMEM161B	87538051	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.025000	0.57225	1.304000	0.44892	0.467000	0.42956	AGT		0.279	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		7	49	1	0	0.0381472	1	0.0402318	7	49					A	87502295	C	A	87502295	3	1	86	1	0	0	0	0	1	0	0	0	16129	565	20	3	867	3	TMEM161B	5	87502295	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	53517774	87502295	93412965	28	32930											
PCDHA4	56144	broad.mit.edu	37	chr5	140188813	140188813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcgccaaaggcctcctcaCgggcgttggtgggcgctgtg	17	12	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:140188813C>T	ENST00000530339.1	+	1	2041	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	681					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)			GGCCTCCTCACGGGCGTTGGT	0.632																																						ENST00000530339.1																			0				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						c.(2041-2043)Cgg>Tgg									57	57	57					5																	140188813		2203	4300	6503	SO:0001583	missense	0							g.chr5:140188813C>T	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.2041C>T	5.37:g.140188813C>T	ENSP00000435300:p.Arg681Trp					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W	p.R681W	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2041	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2041C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	11.80	1.746491	0.30955	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.63;0.59;0.6	3.93	-0.744	0.11101	.	0.210729	0.23351	U	0.049123	T	0.51466	0.1676	M	0.89601	3.045	0.09310	N	1	B;B;B	0.32717	0.381;0.082;0.137	B;B;B	0.32289	0.143;0.022;0.022	T	0.52366	-0.8585	10	0.66056	D	0.02	.	4.0101	0.09619	0.4068:0.383:0.1322:0.078	.	681;681;681	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	681	ENSP00000423470:R681W;ENSP00000349344:R681W;ENSP00000435300:R681W	ENSP00000349344:R681W	R	+	1	2	PCDHA4	140168997	0.171000	0.23029	0.001000	0.08648	0.014000	0.08584	0.000000	0.12993	-0.051000	0.13334	-0.516000	0.04426	CGG		0.632	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		59	226	0	0	0	1	0	59	226					T	140188813	C	T	140188813	3	4	86	1	0	0	0	0	1	0	0	0	11568	527	19	1	2043	1	PCDHA4	5	140188813	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	52686518	140188813	40726447	29	32931											
PCDH1	5097	broad.mit.edu	37	chr5	141243880	141243880	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgttgctctcgatcaaaGctcaggctggataggatggt	12	8	3	0	rs149691852		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:141243880G>A	ENST00000394536.3	-	3	2155	c.2016C>T	c.(2014-2016)agC>agT	p.S672S	PCDH1_ENST00000456271.1_Silent_p.S660S|PCDH1_ENST00000287008.3_Silent_p.S672S|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.S650S	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	672	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)		CTCGATCAAAGCTCAGGCTGG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		22002	0.0		0.001	False		,,,				2504	0.0				Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				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						c.(2014-2016)agC>agT		protocadherin 1							130	127	128					5																	141243880		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243880G>A	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.2016C>T	5.37:g.141243880G>A						PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Silent_p.S672S|PCDH1_ENST00000456271.1_Silent_p.S660S|PCDH1_ENST00000536585.1_Silent_p.S650S|PCDH1_ENST00000511044.1_5'UTR	p.S672S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2163	-		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)	672			Cadherin 6.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.2016C>T	CCDS43375.1																																																																																				0.552	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		70	222	0	0	0	1	0	70	222					A	141243880	G	A	141243880	2	1	86	1	0	0	0	0	0	0	0	1	11548	962	34	2		2	PCDH1	5	141243880	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	1055067	141243880	39671380	30	32932											
FGFR4	2264	broad.mit.edu	37	chr5	176520283	176520283	+	Frame_Shift_Del	DEL	G	G	-													gctccacggccggcacccccGcccgcccgccactgtgcaga							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:176520283delG	ENST00000292408.4	+	9	1447	c.1202delG	c.(1201-1203)cgcfs	p.R401fs	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000502906.1_Frame_Shift_Del_p.R401fs|FGFR4_ENST00000393648.2_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	401					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)	CGGCACCCCCGCCCGCCCGCC	0.692										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1201-1203)ccfs		fibroblast growth factor receptor 4	Palifermin(DB00039)						24	27	26					5																	176520283		2201	4299	6500	SO:0001589	frameshift_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520283delG	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.1202delG	5.37:g.176520283delG	ENSP00000292408:p.Arg401fs	TSP Lung(9;0.080)				FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Frame_Shift_Del_p.R401fs|FGFR4_ENST00000393637.1_Intron	p.R401fs	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1447	+	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)	401					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Frame_Shift_Del	DEL	ENST00000292408.4	37	c.1202delG	CCDS4410.1																																																																																				0.692	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			7	262						7	262	---	---	---	---	-	176520283	G	-	176520283	7	5	86	1	0	1	0	1	0	0	0	0	5893	1087	38	0	1232	0	FGFR4	5	176520283	Frame_Shift_Del	DEL	G	TCGA-IB-A5SS-01A-11D-A32N-08	35276403	176520283	4394977	31	32933											
RASGEF1C	255426	broad.mit.edu	37	chr5	179538479	179538479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcactgaagatgggggcGgtgtacaggtagtgggtgat	17	6	1	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:179538479G>A	ENST00000393371.2	-	11	1577	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	RASGEF1C_ENST00000522500.1_Silent_p.T276T|RASGEF1C_ENST00000361132.4_Silent_p.T427T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	427	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGGGGGCGGTGTACAGGT	0.592																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(1279-1281)acC>acT		RasGEF domain family, member 1C							136	93	108					5																	179538479		2203	4300	6503	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179538479G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1281C>T	5.37:g.179538479G>A						RASGEF1C_ENST00000522500.1_Silent_p.T276T|RASGEF1C_ENST00000361132.4_Silent_p.T427T	p.T427T			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1577	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	427			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.1281C>T	CCDS4452.1																																																																																				0.592	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		44	150	0	0	0	1	0	44	150					A	179538479	G	A	179538479	2	1	86	1	0	0	0	0	0	0	0	1	13121	1103	39	1		1	RASGEF1C	5	179538479	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	3018196	179538479	1376781	32	32934											
DSP	1832	broad.mit.edu	37	chr6	7562904	7562904	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcggagatggacatggtggCctggggtgtggacctggcct	20	8	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:7562904C>A	ENST00000379802.3	+	5	958	c.617C>A	c.(616-618)gCc>gAc	p.A206D	DSP_ENST00000418664.2_Missense_Mutation_p.A206D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	206	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GACATGGTGGCCTGGGGTGTG	0.562																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(616-618)gCc>gAc		desmoplakin							174	179	178					6																	7562904		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7562904C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.617C>A	6.37:g.7562904C>A	ENSP00000369129:p.Ala206Asp					DSP_ENST00000418664.2_Missense_Mutation_p.A206D	p.A206D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	5	958	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	206			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.617C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063244	0.19987	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.92348	-3.02;-3.02	5.76	1.83	0.25207	.	0.832458	0.10584	N	0.657572	T	0.56819	0.2011	N	0.01493	-0.835	0.22779	N	0.998745	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54814	-0.8237	10	0.30854	T	0.27	.	3.0265	0.06092	0.2679:0.4835:0.0969:0.1517	.	253;206	Q4LE79;P15924	.;DESP_HUMAN	D	206;206;11	ENSP00000369129:A206D;ENSP00000396591:A206D	ENSP00000369129:A206D	A	+	2	0	DSP	7507903	0.998000	0.40836	0.992000	0.48379	0.263000	0.26337	1.255000	0.32909	0.781000	0.33589	-0.136000	0.14681	GCC		0.562	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	408	1	0	1	1	1	5	408					A	7562904	C	A	7562904	3	1	86	1	0	0	0	0	1	0	0	0	4797	739	26	3	635	3	DSP	6	7562904	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		7562904	163552163	33	32935											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				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)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			5	57	1	0	0.014758	1	0.01565	5	57					T	13711709	G	T	13711709	3	4	86	1	0	0	0	0	1	0	0	0	13082	1116	39	3	2216	3	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	6148805	13711709	157403358	34	32936											
TRIM10	10107	broad.mit.edu	37	chr6	30126398	30126398	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acctgttgtctcttggtggaCacctgagtctgagggggcag	15	9	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:30126398C>G	ENST00000449742.2	-	3	609	c.534G>C	c.(532-534)gtG>gtC	p.V178V	TRIM10_ENST00000376704.3_Silent_p.V178V	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	178					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						TCTTGGTGGACACCTGAGTCT	0.537																																						ENST00000449742.2																			0				ovary(1)	1						c.(532-534)gtG>gtC		tripartite motif containing 10							162	174	170					6																	30126398		1511	2709	4220	SO:0001819	synonymous_variant	10107					cytoplasm	zinc ion binding	g.chr6:30126398C>G	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.534G>C	6.37:g.30126398C>G						TRIM10_ENST00000376704.3_Silent_p.V178V	p.V178V	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			3	609	-			178					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	c.534G>C	CCDS34375.1																																																																																				0.537	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			5	344	0	0	0	1	0	5	344					G	30126398	C	G	30126398	2	3	86	1	0	0	0	0	0	0	0	1	16539	465	17	5		5	TRIM10	6	30126398	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	16414689	30126398	140988669	35	32937											
KLC4	89953	broad.mit.edu	37	chr6	43039979	43039979	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaggaatgtgccctgCggtcccggagacaggtcaga	15	12	1	2	rs145201350		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:43039979C>A	ENST00000394056.2	+	13	1969	c.1474C>A	c.(1474-1476)Cgg>Agg	p.R492R	KLC4_ENST00000347162.5_Silent_p.R492R|KLC4_ENST00000394058.1_Silent_p.R492R|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000259708.3_Silent_p.R510R|KLC4_ENST00000453940.2_Silent_p.R415R|KLC4_ENST00000479388.1_Silent_p.R492R			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	492						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ATGTGCCCTGCGGTCCCGGAG	0.602																																						ENST00000394056.2																			0				endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23						c.(1474-1476)Cgg>Agg		kinesin light chain 4							52	57	55					6																	43039979		2203	4300	6503	SO:0001819	synonymous_variant	89953					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr6:43039979C>A	AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"Tetratricopeptide (TTC) repeat domain containing"	21624	protein-coding gene	gene with protein product			"kinesin-like 8"	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1474C>A	6.37:g.43039979C>A						KLC4_ENST00000479388.1_Silent_p.R492R|KLC4_ENST00000394058.1_Silent_p.R492R|KLC4_ENST00000347162.5_Silent_p.R492R|KLC4_ENST00000259708.3_Silent_p.R510R|KLC4_ENST00000453940.2_Silent_p.R415R	p.R492R			Q9NSK0	KLC4_HUMAN	all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)		13	1969	+			492					B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Silent	SNP	ENST00000394056.2	37	c.1474C>A	CCDS4883.1																																																																																				0.602	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040579.2	NM_138343		4	190	1	0	0.150653	1	0.158022	4	190					A	43039979	C	A	43039979	2	1	86	1	0	0	0	0	0	0	0	1	8366	759	27	3		3	KLC4	6	43039979	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	12913581	43039979	128075088	36	32938											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	160						7	160	---	---	---	---	A	46660415	-	A	46660414	7	5	86	1	0	1	1	0	0	0	0	0	15786	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	3620435	46660414	124454653	37	32939											
PDE10A	10846	broad.mit.edu	37	chr6	165806202	165806202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtgctacagtgaccGcatgcttccagttgtgataa	11	9	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr6:165806202G>A	ENST00000366882.1	-	17	1713	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	520					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.A520V(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TACAGTGACCGCATGCTTCCA	0.438																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			1	Substitution - Missense(1)	p.A520V(1)	breast(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1558-1560)gCg>gTg		phosphodiesterase 10A	Dipyridamole(DB00975)						172	134	147					6																	165806202		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165806202G>A	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.1559C>T	6.37:g.165806202G>A	ENSP00000355847:p.Ala520Val					PDE10A_ENST00000539869.2_Missense_Mutation_p.A530V|PDE10A_ENST00000354448.4_Missense_Mutation_p.A520V	p.A520V			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	17	1713	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	520					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1559C>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.554837	0.86231	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;D	0.88818	-2.43;-2.43	5.43	4.56	0.56223	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.047408	0.85682	D	0.000000	D	0.91509	0.7319	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.989;0.998	P;P	0.59171	0.465;0.853	D	0.91174	0.4971	10	0.41790	T	0.15	.	15.5814	0.76445	0.0:0.0:0.8611:0.1389	.	530;520	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	520;548;530;520;519	ENSP00000355847:A520V;ENSP00000346435:A520V	ENSP00000341187:A530V	A	-	2	0	PDE10A	165726192	1.000000	0.71417	0.209000	0.23619	0.911000	0.54048	9.074000	0.93998	1.275000	0.44379	0.585000	0.79938	GCG		0.438	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			4	183	0	0	0	1	0	4	183					A	165806202	G	A	165806202	3	1	86	1	0	0	0	0	1	0	0	0	11672	1087	38	1	808	1	PDE10A	6	165806202	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	119145788	165806202	5308865	38	32940											
DNAH11	8701	broad.mit.edu	37	chr7	21657266	21657266	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcactcaacaaggaagtccgCgtctgggatgcttacacggg	12	11	3	0	rs570983771		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:21657266C>A	ENST00000409508.3	+	23	4156	c.4125C>A	c.(4123-4125)cgC>cgA	p.R1375R	DNAH11_ENST00000328843.6_Silent_p.R1380R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1380	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						AGGAAGTCCGCGTCTGGGATG	0.483									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(4138-4140)cgC>cgA		dynein, axonemal, heavy chain 11							54	54	54					7																	21657266		1882	4106	5988	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21657266C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4125C>A	7.37:g.21657266C>A						DNAH11_ENST00000409508.3_Silent_p.R1375R	p.R1380R			Q96DT5	DYH11_HUMAN			23	4171	+			1380			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.4140C>A																																																																																					0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		23	90	1	0	4.7796e-09	1	5.33216e-09	23	90					A	21657266	C	A	21657266	2	1	86	1	0	0	0	0	0	0	0	1	4615	755	27	3		3	DNAH11	7	21657266	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		21657266	137481397	39	32941											
NEUROD6	63974	broad.mit.edu	37	chr7	31377972	31377972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgggcaacctgaacatgGcaccctgcccaaggggaccc	13	15	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:31377972G>A	ENST00000297142.3	-	2	1233	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	304					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGAACATGGCACCCTGCCC	0.468																																						ENST00000297142.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(910-912)gCc>gTc		neuronal differentiation 6							90	89	90					7																	31377972		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31377972G>A	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.911C>T	7.37:g.31377972G>A	ENSP00000297142:p.Ala304Val						p.A304V	NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN			2	1233	-			304					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.911C>T	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629527	0.46944	.	.	ENSG00000164600	ENST00000297142	D	0.95238	-3.65	5.13	5.13	0.70059	.	0.108251	0.64402	D	0.000004	D	0.89181	0.6642	L	0.27053	0.805	0.50813	D	0.999898	B	0.16396	0.017	B	0.18263	0.021	D	0.84308	0.0509	10	0.02654	T	1	-19.6987	18.5931	0.91222	0.0:0.0:1.0:0.0	.	304	Q96NK8	NDF6_HUMAN	V	304	ENSP00000297142:A304V	ENSP00000297142:A304V	A	-	2	0	NEUROD6	31344497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.386000	0.81285	0.650000	0.86243	GCC		0.468	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		5	234	0	0	0	1	0	5	234					A	31377972	G	A	31377972	3	1	86	1	0	0	0	0	1	0	0	0	10393	1203	42	2	106	2	NEUROD6	7	31377972	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	9720706	31377972	127760691	40	32942											
ASL	435	broad.mit.edu	37	chr7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcctattacctggtccGcaaaggggtaagtgtgtagc	12	10	0	0	rs200853731		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|ASL_ENST00000395332.3_Missense_Mutation_p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	379			R -> C (in ARGINSA; dbSNP:rs28940287). {ECO:0000269|PubMed:12408190}.		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)	p.R379L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637																																						ENST00000304874.9																			1	Substitution - Missense(1)	p.R379L(1)	lung(1)	breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(1135-1137)cGc>cAc		argininosuccinate lyase	L-Arginine(DB00125)						95	92	93					7																	65557066		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65557066G>A		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.1136G>A	7.37:g.65557066G>A	ENSP00000307188:p.Arg379His					ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000380839.4_Missense_Mutation_p.R353H	p.R379H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			15	1238	+			379		R -> C (in ARGINSA; dbSNP:rs28940287).			E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.1136G>A	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786704	0.90367	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.89601	3.045	0.58432	D	0.999999	P;P;B	0.42871	0.792;0.6;0.445	B;B;B	0.43838	0.433;0.077;0.102	D	0.93527	0.6866	10	0.87932	D	0	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	H	379;353;379;359	ENSP00000307188:R379H;ENSP00000370219:R353H;ENSP00000378741:R379H;ENSP00000378740:R359H	ENSP00000307188:R379H	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		5	472	0	0	0	1	0	5	472					A	65557066	G	A	65557066	3	1	86	1	0	0	0	0	1	0	0	0	1045	1087	38	1	1190	1	ASL	7	65557066	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	34179094	65557066	93581597	41	32943											
SGCZ	137868	broad.mit.edu	37	chr8	13947958	13947958	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaaatcagtcacttcagctCcacaggcagatgttgctact	8	11	3	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:13947958C>T	ENST00000382080.1	-	8	1648	c.933G>A	c.(931-933)tgG>tgA	p.W311*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W264*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	298					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACTTCAGCTCCACAGGCAGA	0.498																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(931-933)tgG>tgA		sarcoglycan, zeta							176	164	168					8																	13947958		2203	4300	6503	SO:0001587	stop_gained	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13947958C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.933G>A	8.37:g.13947958C>T	ENSP00000371512:p.Trp311*					SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W264*	p.W311*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1648	-			298					Q6REU0	Nonsense_Mutation	SNP	ENST00000382080.1	37	c.933G>A	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	41	8.963007	0.99018	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.39948	D	0.974498	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7556	0.91832	0.0:1.0:0.0:0.0	.	.	.	.	X	311;264	.	ENSP00000371512:W311X	W	-	3	0	SGCZ	13992329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	TGG		0.498	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		76	314	0	0	0	1	0	76	314					T	13947958	C	T	13947958	4	4	86	1	0	0	0	0	0	1	0	0	14254	856	30	2	9	2	SGCZ	8	13947958	Nonsense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		13947958	132416064	42	32944											
JPH1	56704	broad.mit.edu	37	chr8	75227310	75227310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatgcctcttgttatttgCccactccccttcatacttca	3	16	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:75227310C>T	ENST00000342232.4	-	2	965	c.925G>A	c.(925-927)Gca>Aca	p.A309T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	309					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGTTATTTGCCCACTCCCCT	0.502																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(925-927)Gca>Aca		junctophilin 1							132	129	130					8																	75227310		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227310C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.925G>A	8.37:g.75227310C>T	ENSP00000344488:p.Ala309Thr						p.A309T	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	965	-	Breast(64;0.00576)		309					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.925G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476800	0.63849	.	.	ENSG00000104369	ENST00000342232	T	0.54279	0.58	5.31	4.4	0.53042	.	0.197272	0.45126	D	0.000382	T	0.40498	0.1119	L	0.39633	1.23	0.43662	D	0.996086	P	0.36354	0.549	B	0.33196	0.159	T	0.20107	-1.0285	10	0.24483	T	0.36	.	12.7522	0.57314	0.0:0.6542:0.3458:0.0	.	309	Q9HDC5	JPH1_HUMAN	T	309	ENSP00000344488:A309T	ENSP00000344488:A309T	A	-	1	0	JPH1	75389865	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	3.773000	0.55333	2.749000	0.94314	0.655000	0.94253	GCA		0.502	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			5	456	0	0	0	1	0	5	456					T	75227310	C	T	75227310	3	4	86	1	0	0	0	0	1	0	0	0	7990	739	26	2	1076	2	JPH1	8	75227310	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	61279352	75227310	71136712	43	32945											
WDR67	93594	broad.mit.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T													aacaccaagttttcttacagINStttttttttcaccatcggaa					rs570441854		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	7	204						7	204	---	---	---	---	T	124140521	-	T	124140520	8	5	86	1	0	1	1	0	0	0	1	0	17372	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	48913210	124140520	22223502	44	32946											
EIF2C2	27161	broad.mit.edu	37	chr8	141554316	141554316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgctgacactcacggcgGcaatggagggcttcttccca	12	13	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:141554316G>A	ENST00000220592.5	-	14	1947	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	AGO2_ENST00000519980.1_Missense_Mutation_p.A612V	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	612	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										ACTCACGGCGGCAATGGAGGG	0.632																																						ENST00000220592.5																			0											c.(1834-1836)gCc>gTc		argonaute RISC catalytic component 2							103	114	110					8																	141554316		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141554316G>A	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.1835C>T	8.37:g.141554316G>A	ENSP00000220592:p.Ala612Val					AGO2_ENST00000519980.1_Missense_Mutation_p.A612V	p.A612V	NM_012154.3	NP_036286.2					14	1947	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1835C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051705	0.93793	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.29397	1.57;1.57	5.35	5.35	0.76521	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	L	0.52126	1.63	0.80722	D	1	P;P	0.41569	0.742;0.755	P;P	0.56612	0.7;0.802	T	0.36237	-0.9756	10	0.52906	T	0.07	-4.8173	19.4318	0.94772	0.0:0.0:1.0:0.0	.	612;612	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	V	612	ENSP00000220592:A612V;ENSP00000430176:A612V	ENSP00000220592:A612V	A	-	2	0	EIF2C2	141623498	1.000000	0.71417	0.180000	0.23079	0.810000	0.45777	9.744000	0.98853	2.664000	0.90586	0.650000	0.86243	GCC		0.632	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			6	966	0	0	0	1	0	6	966					A	141554316	G	A	141554316	3	1	86	1	0	0	0	0	1	0	0	0	5022	1203	42	2	768	2	EIF2C2	8	141554316	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	17413796	141554316	4809706	45	32947											
KDM4C	23081	broad.mit.edu	37	chr9	7174680	7174680	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccgaccctgtataccGcacttttttgaagagctctt	9	11	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:7174680G>A	ENST00000381309.3	+	22	3687	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	KDM4C_ENST00000428870.2_Missense_Mutation_p.R728H|KDM4C_ENST00000442236.2_Missense_Mutation_p.R786H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	1041					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						CCTGTATACCGCACTTTTTTG	0.478																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3121-3123)cGc>cAc		lysine (K)-specific demethylase 4C							157	163	161					9																	7174680		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:7174680G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.3122G>A	9.37:g.7174680G>A	ENSP00000370710:p.Arg1041His					KDM4C_ENST00000428870.2_Missense_Mutation_p.R728H|KDM4C_ENST00000442236.2_Missense_Mutation_p.R786H	p.R1041H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			22	3687	+			1041					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.3122G>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885379	0.51908	.	.	ENSG00000107077	ENST00000381309;ENST00000442236;ENST00000428870	T;T;T	0.39787	1.06;1.06;1.06	5.69	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	N	0.24115	0.695	0.45366	D	0.998358	B;D	0.76494	0.179;0.999	B;P	0.56088	0.019;0.791	T	0.13629	-1.0502	10	0.46703	T	0.11	-13.0573	8.9667	0.35881	0.0737:0.0:0.7773:0.149	.	786;1041	E7EV17;Q9H3R0	.;KDM4C_HUMAN	H	1041;786;728	ENSP00000370710:R1041H;ENSP00000409353:R786H;ENSP00000405739:R728H	ENSP00000370710:R1041H	R	+	2	0	KDM4C	7164680	0.993000	0.37304	1.000000	0.80357	0.875000	0.50365	2.601000	0.46249	2.671000	0.90904	0.591000	0.81541	CGC		0.478	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		5	566	0	0	0	1	0	5	566					A	7174680	G	A	7174680	3	1	86	1	0	0	0	0	1	0	0	0	8160	1087	38	1	3446	1	KDM4C	9	7174680	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		7174680	134038751	46	32948											
CDKN2A	1029	broad.mit.edu	37	chr9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagctccgccactcGggcgctgcccatcatcatga	10	17	2	1	rs121913387		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7	9	8					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	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.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		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)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	58	0	0	0	1	0	18	58					A	21971186	G	A	21971186	4	1	86	1	0	0	0	0	0	1	0	0	3170	1125	39	1	306	1	CDKN2A	9	21971186	Nonsense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	14796506	21971186	119242245	47	32949											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191	152	166		453	-0.1	1	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		4	188	0	0	0	1	0	4	188					A	33068870	G	A	33068870	2	1	86	1	0	0	0	0	0	0	0	1	14867	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	11097684	33068870	108144561	48	32950											
RUSC2	9853	broad.mit.edu	37	chr9	35555589	35555589	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgagtaccggctccaTggaacaggaagcttgccgcc	12	12	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:35555589T>A	ENST00000455600.1	+	3	3116	c.2547T>A	c.(2545-2547)caT>caA	p.H849Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	849						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)			ACCGGCTCCATGGAACAGGAA	0.647																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2545-2547)caT>caA		RUN and SH3 domain containing 2							46	45	46					9																	35555589		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35555589T>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2547T>A	9.37:g.35555589T>A	ENSP00000393922:p.His849Gln						p.H849Q	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	3116	+			849					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2547T>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328553	0.60743	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23348	1.91;1.91	4.15	4.15	0.48705	.	0.295723	0.38272	N	0.001756	T	0.25306	0.0615	L	0.29908	0.895	0.39729	D	0.971581	D	0.61697	0.99	P	0.50537	0.643	T	0.02901	-1.1096	10	0.37606	T	0.19	-8.6196	11.4069	0.49902	0.0:0.0:0.0:1.0	.	849	Q8N2Y8	RUSC2_HUMAN	Q	849	ENSP00000355177:H849Q;ENSP00000393922:H849Q	ENSP00000355177:H849Q	H	+	3	2	RUSC2	35545589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.372000	0.44257	1.863000	0.54032	0.533000	0.62120	CAT		0.647	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		82	243	0	0	0	1	0	82	243					A	35555589	T	A	35555589	3	1	86	1	0	0	0	0	1	0	0	0	13801	1461	51	5	2553	5	RUSC2	9	35555589	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	2486719	35555589	105657842	49	32951											
ZCCHC7	84186	broad.mit.edu	37	chr9	37349387	37349387	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccaaaaagccgaagaccCcttcaagaccatcagcctta	5	16	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:37349387C>T	ENST00000336755.5	+	7	1127	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	341						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GCCGAAGACCCCTTCAAGACC	0.418																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1021-1023)Cct>Tct		zinc finger, CCHC domain containing 7							159	136	144					9																	37349387		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37349387C>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1021C>T	9.37:g.37349387C>T	ENSP00000337839:p.Pro341Ser					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S	p.P341S	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	7	1127	+			341					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.1021C>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125878	0.20959	.	.	ENSG00000147905	ENST00000336755;ENST00000534928	T;T	0.75938	-0.98;-0.98	5.7	3.63	0.41609	Zinc finger, CCHC retroviral-type (1);	0.593530	0.19292	N	0.117876	T	0.57344	0.2047	L	0.40543	1.245	0.32348	N	0.558818	B	0.20052	0.041	B	0.20767	0.031	T	0.51865	-0.8651	10	0.07813	T	0.8	-13.1561	4.7253	0.12938	0.188:0.6049:0.0:0.2071	.	341	Q8N3Z6	ZCHC7_HUMAN	S	341;51	ENSP00000337839:P341S;ENSP00000443113:P51S	ENSP00000337839:P341S	P	+	1	0	ZCCHC7	37339387	0.952000	0.32445	1.000000	0.80357	0.896000	0.52359	1.796000	0.38794	1.413000	0.46997	-0.289000	0.09944	CCT		0.418	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		53	187	0	0	0	1	0	53	187					T	37349387	C	T	37349387	3	4	86	1	0	0	0	0	1	0	0	0	17646	623	22	2	1043	2	ZCCHC7	9	37349387	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1793798	37349387	103864044	50	32952											
CORO2A	7464	broad.mit.edu	37	chr9	100895363	100895363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaataacccgaatcttgCggtctttgcaggtggtggcc	13	10	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:100895363C>T	ENST00000343933.5	-	5	862	c.605G>A	c.(604-606)cGc>cAc	p.R202H	CORO2A_ENST00000375077.4_Missense_Mutation_p.R202H	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	202					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)				CCGAATCTTGCGGTCTTTGCA	0.582																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(604-606)cGc>cAc		coronin, actin binding protein, 2A							195	163	174					9																	100895363		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100895363C>T	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.605G>A	9.37:g.100895363C>T	ENSP00000343746:p.Arg202His					CORO2A_ENST00000375077.4_Missense_Mutation_p.R202H	p.R202H	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			5	862	-		Acute lymphoblastic leukemia(62;0.0559)	202					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.605G>A	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660467	0.88154	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.61040	0.14;0.14	4.94	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.095153	0.64402	D	0.000002	T	0.67822	0.2934	L	0.47190	1.495	0.45490	D	0.998457	D	0.89917	1.0	D	0.74023	0.982	T	0.70626	-0.4820	10	0.87932	D	0	-18.4897	12.2613	0.54652	0.0:0.9162:0.0:0.0838	.	202	Q92828	COR2A_HUMAN	H	202	ENSP00000343746:R202H;ENSP00000364218:R202H	ENSP00000343746:R202H	R	-	2	0	CORO2A	99935184	0.070000	0.21116	1.000000	0.80357	0.994000	0.84299	0.551000	0.23361	1.314000	0.45095	0.655000	0.94253	CGC		0.582	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		5	411	0	0	0	1	0	5	411					T	100895363	C	T	100895363	3	4	86	1	0	0	0	0	1	0	0	0	3765	768	27	1	1004	1	CORO2A	9	100895363	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	63545976	100895363	40318068	51	32953											
HSPA5	3309	broad.mit.edu	37	chr9	128000914	128000914	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcctggacagcagcacCatacgctacagcttcatctg	8	15	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:128000914C>T	ENST00000324460.6	-	6	1392	c.1189G>A	c.(1189-1191)Ggt>Agt	p.G397S		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	397					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	ACAGCAGCACCATACGCTACA	0.478										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1189-1191)Ggt>Agt		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						105	89	94					9																	128000914		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128000914C>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"Heat shock proteins / HSP70"	5238	protein-coding gene	gene with protein product		138120	"heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1189G>A	9.37:g.128000914C>T	ENSP00000324173:p.Gly397Ser	Prostate(1;0.17)					p.G397S	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			6	1392	-			397					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1189G>A	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269740	0.95429	.	.	ENSG00000044574	ENST00000324460	T	0.74526	-0.85	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.99937	4.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96722	0.9533	10	0.87932	D	0	-2.7014	16.4549	0.84009	0.0:1.0:0.0:0.0	.	397	P11021	GRP78_HUMAN	S	397	ENSP00000324173:G397S	ENSP00000324173:G397S	G	-	1	0	HSPA5	127040735	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GGT		0.478	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			58	186	0	0	0	1	0	58	186					T	128000914	C	T	128000914	3	4	86	1	0	0	0	0	1	0	0	0	7444	594	21	2	787	2	HSPA5	9	128000914	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	27105551	128000914	13212517	52	32954											
C9orf106	414318	broad.mit.edu	37	chr9	132084600	132084600	+	RNA	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacattcgcttggctctgccCtcagagcactgatgcccggg	12	14	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:132084600C>A	ENST00000316786.1	+	0	561							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)				TGGCTCTGCCCTCAGAGCACT	0.612																																						ENST00000316786.1																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4								chromosome 9 open reading frame 106							42	45	44					9																	132084600		1995	4166	6161			414318							g.chr9:132084600C>A	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.132084600C>A										Q8NAJ2	CI106_HUMAN			0	561	+		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)							RNA	SNP	ENST00000316786.1	37																																																																																						0.612	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2			45	143	1	0	5.20006e-24	1	6.11958e-24	45	143					A	132084600	C	A	132084600	1	1	86	0	1	0	0	0	0	0	0	0	2454	681	24	3		3	C9orf106	9	132084600	RNA	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	4083686	132084600	9128831	53	32955											
LCN9	392399	broad.mit.edu	37	chr9	138557549	138557549	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatttgaagaaacctgCgaaaagtacggacttggctc	11	8	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	142						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)		AAGAAACCTGCGAAAAGTACG	0.572																																						ENST00000277526.3																			0				kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6						c.(424-426)tgC>tgT		lipocalin 9							44	44	44					9																	138557549		1925	4121	6046	SO:0001819	synonymous_variant	392399					extracellular region	pheromone binding|transporter activity	g.chr9:138557549C>T	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.426C>T	9.37:g.138557549C>T						LCN9_ENST00000430290.2_3'UTR	p.C142C	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)	5	426	+		Myeloproliferative disorder(178;0.0821)	142					C9J5F0|Q6JVE7	Silent	SNP	ENST00000277526.3	37	c.426C>T	CCDS56593.1																																																																																				0.572	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	NM_001001676		16	61	0	0	0	1	0	16	61					T	138557549	C	T	138557549	2	4	86	1	0	0	0	0	0	0	0	1	8718	776	27	1		1	LCN9	9	138557549	Silent	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	6472949	138557549	2655882	54	32956											
SNAPC4	6621	broad.mit.edu	37	chr9	139272186	139272186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccaggaaccgcgcccGcaacaggaggtaggccgggt	17	13	0	0	rs372472067		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:139272186G>A	ENST00000298532.2	-	21	4461	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACCGCGCCCGCAACAGGAGG	0.726																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(4093-4095)Cgg>Tgg		small nuclear RNA activating complex, polypeptide 4, 190kDa			TRP/ARG	0,4390		0,0,2195	21	23	23		4093	1.7	0	9		23	2,8586		0,2,4292	no	missense	SNAPC4	NM_003086.2	101	0,2,6487	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1365/1470	139272186	2,12976	2195	4294	6489	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139272186G>A	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.4093C>T	9.37:g.139272186G>A	ENSP00000298532:p.Arg1365Trp						p.R1365W	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	21	4461	-		Myeloproliferative disorder(178;0.0511)	1365			SNAPC2-binding.			Missense_Mutation	SNP	ENST00000298532.2	37	c.4093C>T	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.610741	0.28712	0.0	2.33E-4	ENSG00000165684	ENST00000298532	T	0.24908	1.83	4.06	1.66	0.24008	.	0.196559	0.34507	N	0.003920	T	0.19167	0.0460	L	0.40543	1.245	0.09310	N	1	B	0.26081	0.141	B	0.14023	0.01	T	0.15694	-1.0428	10	0.87932	D	0	-13.5129	10.0768	0.42366	0.0:0.0:0.3652:0.6348	.	1365	Q5SXM2	SNPC4_HUMAN	W	1365	ENSP00000298532:R1365W	ENSP00000298532:R1365W	R	-	1	2	SNAPC4	138392007	0.983000	0.35010	0.012000	0.15200	0.005000	0.04900	1.417000	0.34770	0.044000	0.15775	-0.408000	0.06270	CGG		0.726	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		4	123	0	0	0	1	0	4	123					A	139272186	G	A	139272186	3	1	86	1	0	0	0	0	1	0	0	0	14887	1086	38	1	324	1	SNAPC4	9	139272186	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	714637	139272186	1941245	55	32957											
APBB1IP	54518	broad.mit.edu	37	chr10	26785284	26785284	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	accctaatccacccagagctGaatttaactacagtgtgggg	9	11	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:26785284G>C	ENST00000376236.4	+	4	579	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	42					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACCCAGAGCTGAATTTAACTA	0.348																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(124-126)Gaa>Caa		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							93	96	95					10																	26785284		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26785284G>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.124G>C	10.37:g.26785284G>C	ENSP00000365411:p.Glu42Gln					APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42Q	p.E42Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			4	579	+			42					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.124G>C	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618637	0.87460	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.35421	1.31	5.87	5.87	0.94306	.	0.086924	0.85682	D	0.000000	T	0.58438	0.2122	L	0.59436	1.845	0.52501	D	0.999951	P;D;D	0.89917	0.822;1.0;1.0	P;D;D	0.74023	0.651;0.946;0.982	T	0.55062	-0.8199	10	0.59425	D	0.04	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	42;42;42	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	Q	42	ENSP00000365411:E42Q	ENSP00000349237:E42Q	E	+	1	0	APBB1IP	26825290	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	6.107000	0.71517	2.941000	0.99782	0.655000	0.94253	GAA		0.348	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		4	228	0	0	0	1	0	4	228					C	26785284	G	C	26785284	3	2	86	1	0	0	0	0	1	0	0	0	760	1291	45	5	130	5	APBB1IP	10	26785284	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		26785284	108749463	56	32958											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	8	5	0	3	rs569602183	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47	39	41					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		6	153	1	0	3.59834e-05	1	3.9459e-05	6	153					T	51754173	G	T	51754173	3	4	86	1	0	0	0	0	1	0	0	0	372	971	34	3	394	3	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	24968889	51754173	83780574	57	32959											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	11	7	1	4			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59	70	66					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		5	445	0	0	0	1	0	5	445					A	75406859	G	A	75406859	3	1	86	1	0	0	0	0	1	0	0	0	15510	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	23652686	75406859	60127888	58	32960											
LRIT1	26103	broad.mit.edu	37	chr10	85991943	85991943	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgagaggcagggcaatgaCgatggccacactgatcacca	13	11	1	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:85991943C>T	ENST00000372105.3	-	4	1633	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	538						integral component of endoplasmic reticulum membrane (GO:0030176)		p.V538I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGGCAATGACGATGGCCACA	0.532																																						ENST00000372105.3																			1	Substitution - Missense(1)	p.V538I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(1612-1614)Gtc>Atc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							112	88	96					10																	85991943		2203	4300	6503	SO:0001583	missense	26103					integral to endoplasmic reticulum membrane		g.chr10:85991943C>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1612G>A	10.37:g.85991943C>T	ENSP00000361177:p.Val538Ile						p.V538I	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			4	1633	-			538					Q0QD41|Q9Y4N7	Missense_Mutation	SNP	ENST00000372105.3	37	c.1612G>A	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	9.192	1.026386	0.19512	.	.	ENSG00000148602	ENST00000372105	T	0.42513	0.97	5.62	2.5	0.30297	.	0.565141	0.18543	N	0.138159	T	0.24044	0.0582	L	0.41632	1.29	0.42532	D	0.993043	P	0.36633	0.562	B	0.29862	0.108	T	0.07770	-1.0755	10	0.07030	T	0.85	.	7.4198	0.27065	0.0:0.6491:0.0:0.3509	.	538	Q9P2V4	LRIT1_HUMAN	I	538	ENSP00000361177:V538I	ENSP00000361177:V538I	V	-	1	0	LRIT1	85981923	0.981000	0.34729	0.410000	0.26471	0.092000	0.18411	2.499000	0.45372	0.580000	0.29522	0.563000	0.77884	GTC		0.532	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		30	163	0	0	0	1	0	30	163					T	85991943	C	T	85991943	3	4	86	1	0	0	0	0	1	0	0	0	8985	536	19	1	263	1	LRIT1	10	85991943	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	10585084	85991943	49542804	59	32961											
GRID1	2894	broad.mit.edu	37	chr10	87407024	87407024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgttcttgctgatggtccGccagagttcagcaaacgtgc	11	12	2	2	rs377669879		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:87407024G>A	ENST00000327946.7	-	13	2213	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R281W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGATGGTCCGCCAGAGTTCA	0.572										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0.0	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.001					ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2128-2130)Cgg>Tgg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	257	236	243		2128	-5.4	0.9	10		243	2,8598	2.2+/-6.3	0,2,4298	no	missense	GRID1	NM_017551.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	710/1010	87407024	2,13004	2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87407024G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2128C>T	10.37:g.87407024G>A	ENSP00000330148:p.Arg710Trp	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RP11-93H12.4_ENST00000474115.2_RNA	p.R710W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			13	2213	-			710					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2128C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182564	0.78677	0.0	2.33E-4	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26957	1.7;1.7	5.7	-5.39	0.02664	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.40196	0.1107	M	0.85777	2.775	0.80722	D	1	D	0.57899	0.981	P	0.49887	0.625	T	0.61898	-0.6968	10	0.72032	D	0.01	.	19.1965	0.93691	0.0:0.0:0.6216:0.3784	.	710	Q9ULK0	GRID1_HUMAN	W	710;281	ENSP00000330148:R710W;ENSP00000444455:R281W	ENSP00000330148:R710W	R	-	1	2	GRID1	87397004	1.000000	0.71417	0.902000	0.35471	0.939000	0.58152	1.430000	0.34914	-1.166000	0.02783	-0.271000	0.10264	CGG		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		7	1057	0	0	0	1	0	7	1057					A	87407024	G	A	87407024	3	1	86	1	0	0	0	0	1	0	0	0	6801	1086	38	1	917	1	GRID1	10	87407024	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	1415081	87407024	48127723	60	32962											
SLIT1	6585	broad.mit.edu	37	chr10	98816094	98816094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacagagtctggatggcccGcagggaggtgaaagtgccct	15	10	2	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:98816094G>A	ENST00000266058.4	-	13	1530	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SLIT1_ENST00000371070.4_Missense_Mutation_p.R429W|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	429					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGATGGCCCGCAGGGAGGTG	0.622																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1285-1287)Cgg>Tgg		slit homolog 1 (Drosophila)							104	101	102					10																	98816094		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98816094G>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1285C>T	10.37:g.98816094G>A	ENSP00000266058:p.Arg429Trp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R429W	p.R429W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	13	1530	-		Colorectal(252;0.162)	429					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.1285C>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056410	0.76074	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.58210	1.8;1.8;0.35	4.91	1.86	0.25419	.	0.059286	0.64402	D	0.000002	T	0.65647	0.2711	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.922	T	0.66791	-0.5834	10	0.87932	D	0	.	13.5661	0.61819	0.0:0.0:0.593:0.407	.	439;429	E7EWQ8;O75093	.;SLIT1_HUMAN	W	429;439;429;422	ENSP00000266058:R429W;ENSP00000360109:R429W;ENSP00000315005:R422W	ENSP00000266058:R429W	R	-	1	2	SLIT1	98806084	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.433000	0.66520	0.194000	0.20326	0.561000	0.74099	CGG		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		6	362	0	0	0	1	0	6	362					A	98816094	G	A	98816094	3	1	86	1	0	0	0	0	1	0	0	0	14789	1086	38	1	3419	1	SLIT1	10	98816094	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	11409070	98816094	36718653	61	32963											
PYROXD2	84795	broad.mit.edu	37	chr10	100155147	100155147	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaggctggggaaccactcaCcttggtaatgggagctgtga	15	8	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:100155147C>A	ENST00000370575.4	-	7	736		c.e7+1		PYROXD2_ENST00000483923.1_Splice_Site|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2								oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAACCACTCACCTTGGTAATG	0.577																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.e7+1		pyridine nucleotide-disulphide oxidoreductase domain 2							152	155	154					10																	100155147		2203	4300	6503	SO:0001630	splice_region_variant	84795						oxidoreductase activity	g.chr10:100155147C>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.687+1G>T	10.37:g.100155147C>A						PYROXD2_ENST00000483923.1_Splice_Site		NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN			7	736	-								D3DR61|Q5TAA9|Q9BRQ1	Splice_Site	SNP	ENST00000370575.4	37		CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654104	0.67472	.	.	ENSG00000119943	ENST00000370575	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4032	0.87466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PYROXD2	100145137	1.000000	0.71417	0.993000	0.49108	0.817000	0.46193	3.922000	0.56462	2.386000	0.81285	0.655000	0.94253	.		0.577	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709	Intron	7	858	1	0	1.26484e-09	1	1.42757e-09	7	858					A	100155147	C	A	100155147	5	1	86	1	0	0	0	0	0	0	1	0	12917	521	18	3	1097	3	PYROXD2	10	100155147	Splice_Site	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1339053	100155147	35379600	62	32964											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606231	1606231	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccccccttgcagccTccacaggagccacagccccc	7	23	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:1606231T>C	ENST00000382171.2	-	1	282	c.249A>G	c.(247-249)ggA>ggG	p.G83G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	83	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)		CCTTGCAGCCTCCACAGGAGC	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(247-249)ggA>ggG		keratin associated protein 5-1																																				SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606231T>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.249A>G	11.37:g.1606231T>C						KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G83G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	282	-		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)	83			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.249A>G	CCDS31330.1																																																																																				0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		11	611	0	0	0	1	0	11	611					C	1606231	T	C	1606231	2	2	86	1	0	0	0	0	0	0	0	1	8589	1538	54	4		4	KRTAP5-1	11	1606231	Silent	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08		1606231	133400285	63	32965											
ZNF143	7702	broad.mit.edu	37	chr11	9519322	9519322	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacttcaggagatctAcagaaacacatcagaactca	5	10	5	3	rs369479757		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:9519322A>T	ENST00000396602.2	+	10	1061	c.942A>T	c.(940-942)ctA>ctT	p.L314L	ZNF143_ENST00000396604.1_Silent_p.L313L|ZNF143_ENST00000530463.1_Silent_p.L313L|ZNF143_ENST00000299606.2_Silent_p.L286L|ZNF143_ENST00000396597.3_Silent_p.L283L	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	314					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)		CAGGAGATCTACAGAAACACA	0.368																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(940-942)ctA>ctT		zinc finger protein 143							72	73	72					11																	9519322		2201	4294	6495	SO:0001819	synonymous_variant	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9519322A>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.942A>T	11.37:g.9519322A>T						ZNF143_ENST00000396604.1_Silent_p.L313L|ZNF143_ENST00000396597.3_Silent_p.L283L|ZNF143_ENST00000299606.2_Silent_p.L286L|ZNF143_ENST00000530463.1_Silent_p.L313L	p.L314L	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	10	1061	+			314					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Silent	SNP	ENST00000396602.2	37	c.942A>T	CCDS7799.2																																																																																				0.368	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		4	170	0	0	0	1	0	4	170					T	9519322	A	T	9519322	2	4	86	1	0	0	0	0	0	0	0	1	17785	378	14	5		5	ZNF143	11	9519322	Silent	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	7913091	9519322	125487194	64	32966											
KCNC1	3746	broad.mit.edu	37	chr11	17757790	17757790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaagctgcactgcccagccGacgtgtgcgggccgctctac	13	16	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:17757790G>A	ENST00000379472.3	+	1	271	c.241G>A	c.(241-243)Gac>Aac	p.D81N	KCNC1_ENST00000265969.6_Missense_Mutation_p.D81N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	81					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CTGCCCAGCCGACGTGTGCGG	0.662																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(241-243)Gac>Aac		potassium voltage-gated channel, Shaw-related subfamily, member 1							44	43	44					11																	17757790		2200	4292	6492	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757790G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.241G>A	11.37:g.17757790G>A	ENSP00000368785:p.Asp81Asn					KCNC1_ENST00000265969.6_Missense_Mutation_p.D81N	p.D81N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	271	+			81					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.241G>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422598	0.62622	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	T;T	0.76060	-0.99;-0.99	5.3	3.44	0.39384	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.099935	0.64402	N	0.000002	T	0.57873	0.2083	L	0.27975	0.815	0.80722	D	1	B;P	0.42375	0.246;0.778	B;B	0.39503	0.052;0.301	T	0.50898	-0.8773	10	0.11794	T	0.64	.	11.4045	0.49889	0.1469:0.0:0.8531:0.0	.	81;81	Q3KNS8;P48547	.;KCNC1_HUMAN	N	81	ENSP00000265969:D81N;ENSP00000368785:D81N	ENSP00000265969:D81N	D	+	1	0	KCNC1	17714366	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.757000	0.74924	0.629000	0.30376	0.491000	0.48974	GAC		0.662	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		5	238	0	0	0	1	0	5	238					A	17757790	G	A	17757790	3	1	86	1	0	0	0	0	1	0	0	0	8044	1058	37	1	243	1	KCNC1	11	17757790	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	8238468	17757790	117248726	65	32967											
KIF18A	81930	broad.mit.edu	37	chr11	28080600	28080600	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	accacttttttcctctctacCaaatgttcgatctctttgaa	3	12	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:28080600C>G	ENST00000263181.6	-	13	2111	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	MIR610_ENST00000385139.1_RNA	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	607					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TCCTCTCTACCAAATGTTCGA	0.408																																						ENST00000263181.6																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						c.(1819-1821)ttG>ttC		kinesin family member 18A							177	175	176					11																	28080600		2202	4299	6501	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28080600C>G	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1821G>C	11.37:g.28080600C>G	ENSP00000263181:p.Leu607Phe						p.L607F	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN			13	2111	-			607					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.1821G>C	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524458	0.44969	.	.	ENSG00000121621	ENST00000263181	T	0.77098	-1.07	5.62	0.802	0.18686	.	0.070738	0.56097	D	0.000026	D	0.84215	0.5423	M	0.70275	2.135	0.46521	D	0.999083	D	0.89917	1.0	D	0.73380	0.98	T	0.81701	-0.0813	10	0.51188	T	0.08	.	10.6652	0.45726	0.0:0.2739:0.0:0.7261	.	607	Q8NI77	KI18A_HUMAN	F	607	ENSP00000263181:L607F	ENSP00000263181:L607F	L	-	3	2	KIF18A	28037176	0.986000	0.35501	0.989000	0.46669	0.381000	0.30169	0.007000	0.13174	-0.080000	0.12685	-0.229000	0.12294	TTG		0.408	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217		9	521	0	0	0	1	0	9	521					G	28080600	C	G	28080600	3	3	86	1	0	0	0	0	1	0	0	0	8310	593	21	5	895	5	KIF18A	11	28080600	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	10322810	28080600	106925916	66	32968											
SORL1	6653	broad.mit.edu	37	chr11	121428026	121428026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgtttttgtcaggtaGctaatccagatggcgacttc	9	12	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:121428026G>A	ENST00000260197.7	+	19	2704	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	859					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)		TTGTCAGGTAGCTAATCCAGA	0.532																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(2575-2577)Gct>Act		sortilin-related receptor, L(DLR class) A repeats containing							161	146	151					11																	121428026		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121428026G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.2575G>A	11.37:g.121428026G>A	ENSP00000260197:p.Ala859Thr						p.A859T	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	19	2704	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	859					B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.2575G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994993	0.54041	.	.	ENSG00000137642	ENST00000260197	D	0.91124	-2.79	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.334487	0.31519	N	0.007520	D	0.91597	0.7345	M	0.74258	2.255	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	D	0.89616	0.3845	10	0.41790	T	0.15	.	18.9779	0.92745	0.0:0.0:1.0:0.0	.	859	Q92673	SORL_HUMAN	T	859	ENSP00000260197:A859T	ENSP00000260197:A859T	A	+	1	0	SORL1	120933236	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	3.282000	0.51693	2.487000	0.83934	0.655000	0.94253	GCT		0.532	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		76	233	0	0	0	1	0	76	233					A	121428026	G	A	121428026	3	1	86	1	0	0	0	0	1	0	0	0	14984	971	34	2	2649	2	SORL1	11	121428026	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	93347426	121428026	13578490	67	32969											
NCAPD3	23310	broad.mit.edu	37	chr11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-													catgacagaacctctgacctGggggggtggctgagacgctg					rs138442478		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:134048586delG	ENST00000534548.2	-	22	2789	c.2725delC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					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)	p.Q909fs*12(1)		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)		CCTCTGACCTGGGGGGGTGGC	0.522																																						ENST00000534548.2																			1	Insertion - Frameshift(1)	p.Q909fs*12(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2725-2727)agfs		non-SMC condensin II complex, subunit D3							91	93	93					11																	134048586		2201	4297	6498	SO:0001589	frameshift_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048586delG	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.2725delC	11.37:g.134048586delG	ENSP00000433681:p.Gln909fs						p.Q909fs	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	22	2789	-	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)	909					A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	ENST00000534548.2	37	c.2725delC	CCDS31723.1																																																																																				0.522	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		7	369						7	369	---	---	---	---	-	134048586	G	-	134048586	7	5	86	1	0	1	0	1	0	0	0	0	10248	1357	47	0	1827	0	NCAPD3	11	134048586	Frame_Shift_Del	DEL	G	TCGA-IB-A5SS-01A-11D-A32N-08	12620560	134048586	957930	68	32970											
WNK1	65125	broad.mit.edu	37	chr12	977171	977171	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtagccatttcccagcggcGtaagagcacctccttcctgg	10	14	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:977171G>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Missense_Mutation_p.R845H|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.R760H|WNK1_ENST00000574564.1_Missense_Mutation_p.R59H|WNK1_ENST00000340908.4_Intron	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)			TCCCAGCGGCGTAAGAGCACC	0.517																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(2278-2280)cGt>cAt		WNK lysine deficient protein kinase 1							107	109	108					12																	977171		1932	4138	6070	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:977171G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3260G>A	12.37:g.977171G>A						WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.R59H|WNK1_ENST00000530271.2_Missense_Mutation_p.R845H|WNK1_ENST00000535572.1_Intron	p.R760H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		9	2922	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		763					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2279G>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244765	0.59103	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.13901	2.55;2.55	5.67	5.67	0.87782	.	.	.	.	.	T	0.40956	0.1138	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07139	-1.0788	8	0.46703	T	0.11	.	19.7725	0.96373	0.0:0.0:1.0:0.0	.	845	F5H2M7	.	H	760;845	ENSP00000444465:R760H;ENSP00000433548:R845H	ENSP00000433548:R845H	R	+	2	0	WNK1	847432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.673000	0.90976	0.467000	0.42956	CGT		0.517	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		5	362	0	0	0	1	0	5	362					A	977171	G	A	977171	1	1	86	0	1	0	0	0	0	0	0	0	17431	1145	40	1		1	WNK1	12	977171	Intron	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		977171	132874724	69	32971											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	61	0	0	0	1	0	11	61					T	25398284	C	T	25398284	3	4	86	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	24421113	25398284	108453611	70	32972											
KRT5	3852	broad.mit.edu	37	chr12	52910448	52910448	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcgccctccagcagcttgCggtaagtggcgatctccacg	11	16	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:52910448C>T	ENST00000252242.4	-	7	1802	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	471	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCAGCTTGCGGTAAGTGGC	0.582																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(1411-1413)cGc>cAc		keratin 5							123	110	114					12																	52910448		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52910448C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1412G>A	12.37:g.52910448C>T	ENSP00000252242:p.Arg471His						p.R471H	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1802	-			471			Coil 2.|Rod.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.1412G>A	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959666	0.92791	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.94687	-3.49	5.93	5.93	0.95920	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.52532	D	0.000069	D	0.97977	0.9334	H	0.95224	3.64	0.46044	D	0.998833	D	0.89917	1.0	D	0.80764	0.994	D	0.98525	1.0625	10	0.87932	D	0	.	13.5241	0.61584	0.0:0.9291:0.0:0.0709	.	471	P13647	K2C5_HUMAN	H	471;436	ENSP00000252242:R471H	ENSP00000252242:R471H	R	-	2	0	KRT5	51196715	0.995000	0.38212	0.563000	0.28383	0.926000	0.56050	7.743000	0.85020	2.805000	0.96524	0.655000	0.94253	CGC		0.582	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			5	441	0	0	0	1	0	5	441					T	52910448	C	T	52910448	3	4	86	1	0	0	0	0	1	0	0	0	8509	768	27	1	372	1	KRT5	12	52910448	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	27512164	52910448	80941447	71	32973											
TARBP2	7786	broad.mit.edu	37	chr12	53895234	53895234	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccggcactaccacgggctgCgggctgcctaggtgagccgt	15	14	0	1	rs371506572		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:53895234C>T	ENST00000267079.2	-	0	0				TARBP2_ENST00000394357.2_5'Flank|TARBP2_ENST00000266987.2_Silent_p.C14C|TARBP2_ENST00000456234.2_Intron|MAP3K12_ENST00000547488.1_5'Flank|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000552857.1_Silent_p.C14C|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACGGGCTGCGGGCTGCCTA	0.687																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(40-42)tgC>tgT		TAR (HIV-1) RNA binding protein 2							29	24	25					12																	53895234		2167	4269	6436	SO:0001631	upstream_gene_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53895234C>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854		12.37:g.53895234C>T	Exception_encountered					TARBP2_ENST00000552857.1_Silent_p.C14C|TARBP2_ENST00000456234.2_Intron	p.C14C	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			1	525	+			14					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	ENST00000267079.2	37	c.42C>T	CCDS8860.1																																																																																				0.687	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		3	26	0	0	0	1	0	3	26					T	53895234	C	T	53895234	1	4	86	0	1	0	0	0	0	0	0	0	15608	776	27	1		1	TARBP2	12	53895234	5'Flank	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	984786	53895234	79956661	72	32974											
LRIG3	121227	broad.mit.edu	37	chr12	59277344	59277344	+	Frame_Shift_Del	DEL	A	A	-													gtgaaaatgcattgccttgtAaagacatgattgcgttgtca							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:59277344delA	ENST00000320743.3	-	11	1560	c.1274delT	c.(1273-1275)ttafs	p.L425fs	LRIG3_ENST00000379141.4_Frame_Shift_Del_p.L365fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	425					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)			ATTGCCTTGTAAAGACATGAT	0.383			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1273-1275)tafs		leucine-rich repeats and immunoglobulin-like domains 3							122	116	118					12																	59277344		2203	4300	6503	SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59277344delA	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.1274delT	12.37:g.59277344delA	ENSP00000326759:p.Leu425fs					LRIG3_ENST00000379141.4_Frame_Shift_Del_p.L365fs	p.L425fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		11	1560	-			425					Q6UXL7|Q8NC72	Frame_Shift_Del	DEL	ENST00000320743.3	37	c.1274delT	CCDS8960.1																																																																																				0.383	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		40	163						40	163	---	---	---	---	-	59277344	A	-	59277344	7	5	86	1	0	1	0	1	0	0	0	0	8984	372	13	0	2121	0	LRIG3	12	59277344	Frame_Shift_Del	DEL	A	TCGA-IB-A5SS-01A-11D-A32N-08	5382110	59277344	74574551	73	32975											
TMTC2	160335	broad.mit.edu	37	chr12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggacagcctcctcacccGcactctcaccttcttctact	4	19	4	0	rs559369404		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:83289748G>A	ENST00000321196.3	+	3	1513	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_ENST00000549919.1_Missense_Mutation_p.R263H|TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	269					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						CTCCTCACCCGCACTCTCACC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16768	0.0		0.0	False		,,,				2504	0.0					ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(787-789)cGc>cAc		transmembrane and tetratricopeptide repeat containing 2							138	126	130					12																	83289748		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289748G>A	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.806G>A	12.37:g.83289748G>A	ENSP00000322300:p.Arg269His					TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H|TMTC2_ENST00000321196.3_Missense_Mutation_p.R269H	p.R263H			Q8N394	TMTC2_HUMAN			4	2593	+			269					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.788G>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200994	0.79015	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61859	0.07;0.07;0.07	5.84	5.84	0.93424	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.94658	3.565	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	0.87587	0.2488	10	0.87932	D	0	-18.4524	20.139	0.98050	0.0:0.0:1.0:0.0	.	269;24;269	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	H	269;269;263;24	ENSP00000322300:R269H;ENSP00000448292:R269H;ENSP00000447609:R263H	ENSP00000322300:R269H	R	+	2	0	TMTC2	81813879	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.476000	0.97823	2.764000	0.94973	0.655000	0.94253	CGC		0.527	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		6	334	0	0	0	1	0	6	334					A	83289748	G	A	83289748	3	1	86	1	0	0	0	0	1	0	0	0	16313	1087	38	1	816	1	TMTC2	12	83289748	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	24012404	83289748	50562147	74	32976											
NOS1	4842	broad.mit.edu	37	chr12	117662845	117662845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttggatatcaaattgccGctgttgccagaagcttcgga	12	8	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:117662845G>A	ENST00000338101.4	-	25	3908	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	NOS1_ENST00000317775.6_Missense_Mutation_p.R1268W|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCAAATTGCCGCTGTTGCCAG	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3802-3804)Cgg>Tgg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						146	159	155					12																	117662845		1948	4149	6097	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117662845G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3904C>T	12.37:g.117662845G>A	ENSP00000337459:p.Arg1302Trp					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1302W	p.R1268W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	25	4487	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1268						Missense_Mutation	SNP	ENST00000338101.4	37	c.3802C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874204	0.72180	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.85258	-1.96;-1.96	4.93	4.0	0.46444	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.93680	0.7981	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94520	0.7726	10	0.66056	D	0.02	-31.3949	13.4871	0.61373	0.0:0.0:0.731:0.269	.	1268	P29475	NOS1_HUMAN	W	1163;1268;1302	ENSP00000320758:R1268W;ENSP00000337459:R1302W	ENSP00000320758:R1268W	R	-	1	2	NOS1	116147228	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.995000	0.49441	2.555000	0.86185	0.561000	0.74099	CGG		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			188	383	0	0	0	1	0	188	383					A	117662845	G	A	117662845	3	1	86	1	0	0	0	0	1	0	0	0	10583	1086	38	1	522	1	NOS1	12	117662845	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	34373097	117662845	16189050	75	32977											
TEP1	7011	broad.mit.edu	37	chr14	20852647	20852647	+	Frame_Shift_Del	DEL	C	C	-													agggccggccagctgccacaCccccccactcacaggggtat							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:20852647delC	ENST00000262715.5	-	23	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					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)	p.V1082fs*47(1)		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)		AGCTGCCACACCCCCCCACTC	0.587																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)gtfs		telomerase-associated protein 1							108	128	121					14																	20852647		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852647delC		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.3242delG	14.37:g.20852647delC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.3242delG	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	897						7	897	---	---	---	---	-	20852647	C	-	20852647	7	5	86	1	0	1	0	1	0	0	0	0	15811	507	18	0	4773	0	TEP1	14	20852647	Frame_Shift_Del	DEL	C	TCGA-IB-A5SS-01A-11D-A32N-08		20852647	86496893	76	32978											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	879						10	879	---	---	---	---	-	21961062	GCT	-	21961060	7	5	86	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-IB-A5SS-01A-11D-A32N-08	1108413	21961060	85388480	77	32979											
CDH24	64403	broad.mit.edu	37	chr14	23517662	23517662	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttgcttctgccgccGcagggccacgaagagcacca	11	15	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:23517662G>A	ENST00000267383.5	-	12	2079	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	CDH24_ENST00000554034.1_Missense_Mutation_p.R625W|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000397359.3_Missense_Mutation_p.R663W|CDH24_ENST00000487137.2_Missense_Mutation_p.R625W			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	663					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)		TTCTGCCGCCGCAGGGCCACG	0.672																																						ENST00000397359.3																			0				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						c.(1987-1989)Cgg>Tgg		cadherin 24, type 2							52	56	55					14																	23517662		2202	4295	6497	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517662G>A	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.1987C>T	14.37:g.23517662G>A	ENSP00000267383:p.Arg663Trp					CDH24_ENST00000554034.1_Missense_Mutation_p.R625W|CDH24_ENST00000487137.2_Missense_Mutation_p.R625W|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.R663W	p.R663W	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2246	-	all_cancers(95;3.3e-05)		663					D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.1987C>T	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036370	0.54896	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	4.06	3.13	0.36017	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000001	D	0.93759	0.8005	M	0.90309	3.105	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93914	0.7199	10	0.87932	D	0	.	11.5441	0.50683	0.0:0.0:0.8126:0.1874	.	625;663	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	W	663;625;158;625;663	ENSP00000380517:R663W;ENSP00000434821:R625W;ENSP00000452493:R625W;ENSP00000267383:R663W	ENSP00000267383:R663W	R	-	1	2	CDH24	22587502	0.999000	0.42202	1.000000	0.80357	0.657000	0.38888	0.679000	0.25291	0.863000	0.35553	0.591000	0.81541	CGG		0.672	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		6	415	0	0	0	1	0	6	415					A	23517662	G	A	23517662	3	1	86	1	0	0	0	0	1	0	0	0	3118	1086	38	1	476	1	CDH24	14	23517662	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	1556602	23517662	83831878	78	32980											
DHRS2	10202	broad.mit.edu	37	chr14	24114078	24114078	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggaagaacttcaaggaacatCatcagctgcagaggcaagtg	12	8	3	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:24114078C>A	ENST00000250383.6	+	8	1194	c.718C>A	c.(718-720)Cat>Aat	p.H240N	DHRS2_ENST00000344777.7_Silent_p.I243I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	240					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)		CAAGGAACATCATCAGCTGCA	0.512																																						ENST00000250383.6																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(718-720)Cat>Aat		dehydrogenase/reductase (SDR family) member 2							106	106	106					14																	24114078		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24114078C>A		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.718C>A	14.37:g.24114078C>A	ENSP00000250383:p.His240Asn					DHRS2_ENST00000344777.7_Silent_p.I243I	p.H240N	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	8	1194	+			218					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.718C>A	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.123|8.123	0.781271|0.781271	0.16120|0.16120	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000250383;ENST00000553600|ENST00000557535	D;T|.	0.87966|.	-2.32;1.02|.	5.48|5.48	-5.45|-5.45	0.02616|0.02616	.|.	.|.	.|.	.|.	.|.	T|.	0.18676|.	0.0448|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.32010|.	0.351|.	B|.	0.27380|.	0.079|.	T|.	0.27400|.	-1.0075|.	8|.	0.54805|.	T|.	0.06|.	.|.	3.8079|3.8079	0.08785|0.08785	0.1079:0.2756:0.1063:0.5103|0.1079:0.2756:0.1063:0.5103	.|.	240|.	D3DS54|.	.|.	N|X	240;140|139	ENSP00000250383:H240N;ENSP00000451485:H140N|.	ENSP00000250383:H240N|.	H|S	+|+	1|2	0|0	DHRS2|DHRS2	23183918|23183918	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.335000|-1.335000	0.02662|0.02662	-1.100000|-1.100000	0.03030|0.03030	-1.098000|-1.098000	0.02139|0.02139	CAT|TCA		0.512	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		39	185	1	0	3.43241e-23	1	4.01489e-23	39	185					A	24114078	C	A	24114078	3	1	86	1	0	0	0	0	1	0	0	0	4506	826	29	3	755	3	DHRS2	14	24114078	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	596416	24114078	83235462	79	32981											
UBE3A	7337	broad.mit.edu	37	chr15	25616639	25616639	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atcaatatccacagacacatCatcagggcctaatttttgca	5	11	3	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:25616639C>T	ENST00000397954.2	-	4	690	c.691G>A	c.(691-693)Gat>Aat	p.D231N	UBE3A_ENST00000438097.1_Missense_Mutation_p.D208N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D208N|UBE3A_ENST00000232165.3_Missense_Mutation_p.D228N|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.D208N			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	231					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)		ACAGACACATCATCAGGGCCT	0.408																																						ENST00000232165.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(682-684)Gat>Aat		ubiquitin protein ligase E3A							174	169	171					15																	25616639		2203	4300	6503	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616639C>T	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.691G>A	15.37:g.25616639C>T	ENSP00000381045:p.Asp231Asn					UBE3A_ENST00000438097.1_Missense_Mutation_p.D208N|UBE3A_ENST00000566215.1_Missense_Mutation_p.D208N|UBE3A_ENST00000397954.2_Missense_Mutation_p.D231N|UBE3A_ENST00000428984.2_Missense_Mutation_p.D208N|SNHG14_ENST00000554726.1_RNA	p.D228N	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	6	1338	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	231					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.682G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537624	0.65085	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.84	5.84	0.93424	.	0.042996	0.85682	D	0.000000	T	0.15522	0.0374	L	0.27053	0.805	0.58432	D	0.999999	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.07751	-1.0756	10	0.25751	T	0.34	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	228;231	Q05086-3;Q05086	.;UBE3A_HUMAN	N	228;228;231;208;208	ENSP00000232165:D228N;ENSP00000381045:D231N;ENSP00000411258:D208N;ENSP00000401265:D208N	ENSP00000232165:D228N	D	-	1	0	UBE3A	23167732	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	GAT		0.408	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		7	540	0	0	0	1	0	7	540					T	25616639	C	T	25616639	3	4	86	1	0	0	0	0	1	0	0	0	16933	826	29	2	1968	2	UBE3A	15	25616639	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		25616639	76914753	80	32982											
NARG2	79664	broad.mit.edu	37	chr15	60747571	60747571	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgtttcaatggtagctAtatcgtcctttgacagctgc	9	10	1	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:60747571A>G	ENST00000261520.4	-	7	971	c.737T>C	c.(736-738)aTa>aCa	p.I246T	NARG2_ENST00000439632.1_Missense_Mutation_p.I109T|NARG2_ENST00000561114.1_Missense_Mutation_p.I246T	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AATGGTAGCTATATCGTCCTT	0.333																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(736-738)aTa>aCa		NMDA receptor regulated 2							199	181	187					15																	60747571		2202	4300	6502	SO:0001583	missense	79664					nucleus		g.chr15:60747571A>G																												ENST00000261520.4:c.737T>C	15.37:g.60747571A>G	ENSP00000261520:p.Ile246Thr					NARG2_ENST00000561114.1_Missense_Mutation_p.I246T|NARG2_ENST00000439632.1_Missense_Mutation_p.I109T	p.I246T	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			7	971	-			246						Missense_Mutation	SNP	ENST00000261520.4	37	c.737T>C	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605421	0.03717	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.68	-1.88	0.07713	.	0.620823	0.16985	N	0.191552	T	0.16599	0.0399	N	0.16478	0.41	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.0;0.004	T	0.12016	-1.0564	9	0.32370	T	0.25	-0.2145	4.7993	0.13289	0.6043:0.0:0.211:0.1848	.	109;246	G3V0H6;Q659A1	.;NARG2_HUMAN	T	246;109	.	ENSP00000261520:I246T	I	-	2	0	NARG2	58534863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.076000	0.14712	-0.078000	0.12730	-0.313000	0.08912	ATA		0.333	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			81	247	0	0	0	1	0	81	247					G	60747571	A	G	60747571	3	3	86	1	0	0	0	0	1	0	0	0	10210	449	16	4	2251	4	NARG2	15	60747571	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	35130932	60747571	41783821	81	32983											
ADAMTS17	170691	broad.mit.edu	37	chr15	100636613	100636613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaagtggcaggtcttgccGtccccgctgcagaccccgca	11	17	1	1	rs141443664		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:100636613G>A	ENST00000268070.4	-	15	2190	c.2085C>T	c.(2083-2085)gaC>gaT	p.D695D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	695	Cys-rich.					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)		AGGTCTTGCCGTCCCCGCTGC	0.592																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2083-2085)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 17		G		0,4406		0,0,2203	94	101	99		2085	-3.6	0.9	15	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS17	NM_139057.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		695/1096	100636613	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100636613G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2085C>T	15.37:g.100636613G>A							p.D695D	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	15	2190	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		695			Cys-rich.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2085C>T	CCDS10383.1																																																																																				0.592	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		6	539	0	0	0	1	0	6	539					A	100636613	G	A	100636613	2	1	86	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100636613	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	39889042	100636613	1894779	82	32984											
NHLRC4	283948	broad.mit.edu	37	chr16	618370	618370	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcctggtggctgatgCcaaggacaactccatcaagg	11	13	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:618370C>A	ENST00000424439.2	+	2	980	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PIGQ_ENST00000026218.5_5'Flank|PIGQ_ENST00000409527.2_Intron|NHLRC4_ENST00000540585.1_Missense_Mutation_p.A108D|PIGQ_ENST00000321878.5_5'Flank|PIGQ_ENST00000470411.2_5'Flank			P0CG21	NHLC4_HUMAN	NHL repeat containing 4	108																	GTGGCTGATGCCAAGGACAAC	0.667																																						ENST00000424439.2																			0											c.(322-324)gCc>gAc		NHL repeat containing 4							16	18	17					16																	618370		1941	4097	6038	SO:0001583	missense	283948							g.chr16:618370C>A		CCDS45366.1	16p13.3	2013-03-28			ENSG00000257108	ENSG00000257108			26700	protein-coding gene	gene with protein product						12477932	Standard	NM_001301159		Approved		uc002chl.3	P0CG21	OTTHUMG00000047857	ENST00000424439.2:c.323C>A	16.37:g.618370C>A	ENSP00000410858:p.Ala108Asp					NHLRC4_ENST00000540585.1_Missense_Mutation_p.A108D|PIGQ_ENST00000409527.2_Intron	p.A108D			P0CG21	NHLC4_HUMAN			2	980	+			108					B8ZZ27|Q8N233|Q96AX3|Q96S23	Missense_Mutation	SNP	ENST00000424439.2	37	c.323C>A	CCDS45366.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341804	0.11069	.	.	ENSG00000257108	ENST00000424439;ENST00000540585	T;T	0.72282	-0.64;-0.64	4.16	1.95	0.26073	Six-bladed beta-propeller, TolB-like (1);	0.422812	0.16956	U	0.192698	T	0.65585	0.2705	L	0.46741	1.465	0.09310	N	1	P	0.51351	0.944	P	0.48524	0.58	T	0.55636	-0.8110	9	.	.	.	.	8.147	0.31117	0.1711:0.7326:0.0:0.0963	.	108	P0CG21	NHLC4_HUMAN	D	108	ENSP00000410858:A108D;ENSP00000442223:A108D	.	A	+	2	0	NHLRC4	558371	0.001000	0.12720	0.030000	0.17652	0.024000	0.10985	1.330000	0.33781	1.906000	0.55180	0.585000	0.79938	GCC		0.667	NHLRC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397724.1	NM_176677		4	98	1	0	1	1	1	4	98					A	618370	C	A	618370	3	1	86	1	0	0	0	0	1	0	0	0	10450	739	26	3	325	3	NHLRC4	16	618370	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		618370	89736383	83	32985											
TSC2	7249	broad.mit.edu	37	chr16	2136297	2136297	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagctgaaggactgccagcCggacaaggtgtacctgggag	16	10	0	1	rs373635516|rs137854039		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:2136297C>T	ENST00000219476.3	+	37	5396	c.4766C>T	c.(4765-4767)cCg>cTg	p.P1589L	TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L|TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000350773.4_Missense_Mutation_p.P1566L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1589	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)				GACTGCCAGCCGGACAAGGTG	0.617			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4765-4767)cCg>cTg		tuberous sclerosis 2		C	LEU/PRO,LEU/PRO,LEU/PRO	0,4396		0,0,2198	116	92	100		4766,4565,4697	4.5	1	16		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	98,98,98	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1589/1808,1522/1741,1566/1785	2136297	1,12995	2198	4300	6498	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2136297C>T	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.4766C>T	16.37:g.2136297C>T	ENSP00000219476:p.Pro1589Leu					TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L|TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000350773.4_Missense_Mutation_p.P1566L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L	p.P1589L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			37	5396	+		Hepatocellular(780;0.0202)	1589			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4766C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683119	0.88542	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	4.47	4.47	0.54385	Rap/ran-GAP (2);	0.062472	0.64402	D	0.000004	D	0.95114	0.8417	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.999;0.998;0.999;0.842;0.999;0.999;0.999	D	0.92958	0.6386	10	0.15499	T	0.54	-22.8344	17.3319	0.87267	0.0:1.0:0.0:0.0	.	1474;1486;1566;364;1545;1522;1589	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	L	1589;1523;1546;1486;1474;1566	ENSP00000219476:P1589L;ENSP00000248099:P1546L;ENSP00000399232:P1486L;ENSP00000371978:P1474L;ENSP00000344383:P1566L	ENSP00000219476:P1589L	P	+	2	0	TSC2	2076298	1.000000	0.71417	0.952000	0.39060	0.768000	0.43524	7.588000	0.82629	2.319000	0.78375	0.561000	0.74099	CCG		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		66	104	0	0	0	1	0	66	104					T	2136297	C	T	2136297	3	4	86	1	0	0	0	0	1	0	0	0	16659	652	23	1	4908	1	TSC2	16	2136297	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1517927	2136297	88218456	84	32986											
SCNN1G	6340	broad.mit.edu	37	chr16	23226527	23226527	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcttctctatcattgccCgccgccagtggcagaaagcc	8	15	3	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:23226527C>T	ENST00000300061.2	+	13	1830	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	563					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TATCATTGCCCGCCGCCAGTG	0.587																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1687-1689)Cgc>Tgc		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						95	88	90					16																	23226527		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226527C>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1687C>T	16.37:g.23226527C>T	ENSP00000300061:p.Arg563Cys						p.R563C	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1830	+			563					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1687C>T	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801858	0.50315	.	.	ENSG00000166828	ENST00000300061	T	0.73258	-0.73	5.22	4.26	0.50523	.	0.000000	0.64402	D	0.000014	T	0.66790	0.2825	N	0.08118	0	0.51482	D	0.999928	D	0.89917	1.0	D	0.85130	0.997	T	0.67601	-0.5629	10	0.38643	T	0.18	-20.3075	9.9973	0.41907	0.1562:0.6932:0.1505:0.0	.	563	P51170	SCNNG_HUMAN	C	563	ENSP00000300061:R563C	ENSP00000300061:R563C	R	+	1	0	SCNN1G	23134028	1.000000	0.71417	0.466000	0.27168	0.654000	0.38779	2.845000	0.48254	1.154000	0.42482	0.561000	0.74099	CGC		0.587	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		83	259	0	0	0	1	0	83	259					T	23226527	C	T	23226527	3	4	86	1	0	0	0	0	1	0	0	0	13980	652	23	1	1733	1	SCNN1G	16	23226527	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	21090230	23226527	67128226	85	32987											
ATXN2L	11273	broad.mit.edu	37	chr16	28844418	28844418	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaacagcctggatccTtttcctccccggatcttaaa	7	14	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:28844418T>C	ENST00000336783.4	+	14	1865	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	ATXN2L_ENST00000325215.6_Silent_p.P566P|ATXN2L_ENST00000340394.8_Silent_p.P566P|ATXN2L_ENST00000382686.4_Silent_p.P566P|ATXN2L_ENST00000395547.2_Silent_p.P566P|ATXN2L_ENST00000564304.1_Silent_p.P572P|ATXN2L_ENST00000570200.1_Silent_p.P566P|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	566					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						GCCTGGATCCTTTTCCTCCCC	0.532																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1696-1698)ccT>ccC		ataxin 2-like							121	126	125					16																	28844418		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28844418T>C		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.1698T>C	16.37:g.28844418T>C						RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.P566P|ATXN2L_ENST00000382686.4_Silent_p.P566P|ATXN2L_ENST00000340394.8_Silent_p.P566P|ATXN2L_ENST00000325215.6_Silent_p.P566P|ATXN2L_ENST00000564304.1_Silent_p.P572P|ATXN2L_ENST00000570200.1_Silent_p.P566P	p.P566P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			14	1865	+			566					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.1698T>C	CCDS10641.1																																																																																				0.532	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		5	584	0	0	0	1	0	5	584					C	28844418	T	C	28844418	2	2	86	1	0	0	0	0	0	0	0	1	1213	1596	56	4		4	ATXN2L	16	28844418	Silent	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	5617891	28844418	61510335	86	32988											
SEPHS2	22928	broad.mit.edu	37	chr16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtgatatctgtggccGcatgggcattaaatgtgtgc	13	8	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	313					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						ATCTGTGGCCGCATGGGCATT	0.448																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(937-939)gCg>gTg		selenophosphate synthetase 2							98	91	93					16																	30456111		1944	4143	6087	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456111G>A	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.938C>T	16.37:g.30456111G>A	ENSP00000418669:p.Ala313Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V	p.A313V			Q99611	SPS2_HUMAN			1	1391	-			313					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.938C>T		.	.	.	.	.	.	.	.	.	.	G	17.53	3.413384	0.62511	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	H	0.94620	3.56	0.80722	D	1	P;P	0.49090	0.919;0.906	P;B	0.45343	0.477;0.2	D	0.84632	0.0690	10	0.87932	D	0	-10.0941	16.7892	0.85583	0.0:0.0:1.0:0.0	.	313;256	Q99611;F5H8F9	SPS2_HUMAN;.	V	313;256;264;313	ENSP00000418669:A313V;ENSP00000443601:A256V;ENSP00000426234:A313V	ENSP00000390233:A264V	A	-	2	0	SEPHS2	30363612	1.000000	0.71417	0.991000	0.47740	0.267000	0.26476	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GCG		0.448	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		5	357	0	0	0	1	0	5	357					A	30456111	G	A	30456111	3	1	86	1	0	0	0	0	1	0	0	0	14105	1087	38	1	412	1	SEPHS2	16	30456111	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	1611693	30456111	59898642	87	32989											
SRCAP	10847	broad.mit.edu	37	chr16	30715613	30715613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgggagaagagccatgccGaaattgcagaacaggccaag	14	8	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:30715613G>A	ENST00000262518.4	+	4	668	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	SRCAP_ENST00000395059.2_Missense_Mutation_p.E95K|RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.E95K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	95					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)			GAGCCATGCCGAAATTGCAGA	0.522																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(283-285)Gaa>Aaa		Snf2-related CREBBP activator protein							99	98	99					16																	30715613		1907	4121	6028	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715613G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.283G>A	16.37:g.30715613G>A	ENSP00000262518:p.Glu95Lys					SRCAP_ENST00000395059.2_Missense_Mutation_p.E95K|SRCAP_ENST00000344771.4_Missense_Mutation_p.E95K	p.E95K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	668	+			95					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.283G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011580	0.54468	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.77620	-1.11;-1.11;-1.11	4.95	4.95	0.65309	.	0.000000	0.51477	D	0.000096	T	0.70090	0.3184	N	0.08118	0	0.44985	D	0.998003	D	0.65815	0.995	P	0.52309	0.695	T	0.73777	-0.3876	10	0.38643	T	0.18	-4.5732	17.1213	0.86702	0.0:0.0:1.0:0.0	.	95	Q6ZRS2	SRCAP_HUMAN	K	95	ENSP00000262518:E95K;ENSP00000378499:E95K;ENSP00000343042:E95K	ENSP00000262518:E95K	E	+	1	0	SRCAP	30623114	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.090000	0.64498	2.582000	0.87167	0.650000	0.86243	GAA		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		5	494	0	0	0	1	0	5	494					A	30715613	G	A	30715613	3	1	86	1	0	0	0	0	1	0	0	0	15187	1059	37	1	289	1	SRCAP	16	30715613	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	259502	30715613	59639140	88	32990											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	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						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	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.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	188						7	188	---	---	---	---	-	69726422	CAG	-	69726420	7	5	86	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-IB-A5SS-01A-11D-A32N-08	39010807	69726420	20628333	89	32991											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		44	82	0	0	0	1	0	44	82					A	7577094	G	A	7577094	3	1	86	1	0	0	0	0	1	0	0	0	16434	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08		7577094	73618116	90	32992											
KDM6B	23135	broad.mit.edu	37	chr17	7752044	7752044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttggcctccgtgctggaggGacaaaagtactgttatcggg	14	9	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7752044G>A	ENST00000448097.2	+	11	2769	c.2438G>A	c.(2437-2439)gGa>gAa	p.G813E	KDM6B_ENST00000254846.5_Missense_Mutation_p.G813E			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	813	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						GTGCTGGAGGGACAAAAGTAC	0.647																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2437-2439)gGa>gAa		lysine (K)-specific demethylase 6B							52	57	56					17																	7752044		2202	4300	6502	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752044G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2438G>A	17.37:g.7752044G>A	ENSP00000412513:p.Gly813Glu					KDM6B_ENST00000448097.2_Missense_Mutation_p.G813E	p.G813E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2827	+			813			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2438G>A		.	.	.	.	.	.	.	.	.	.	G	12.51	1.958268	0.34565	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.16897	2.31;2.31	4.54	4.54	0.55810	.	0.242138	0.31092	N	0.008272	T	0.22244	0.0536	N	0.19112	0.55	0.38701	D	0.952991	P;D	0.58268	0.816;0.982	B;P	0.55087	0.311;0.768	T	0.08229	-1.0732	10	0.87932	D	0	-5.6434	16.5716	0.84613	0.0:0.0:1.0:0.0	.	813;813	O15054;O15054-1	KDM6B_HUMAN;.	E	813	ENSP00000254846:G813E;ENSP00000412513:G813E	ENSP00000254846:G813E	G	+	2	0	KDM6B	7692769	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.418000	0.59828	2.526000	0.85167	0.462000	0.41574	GGA		0.647	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		101	242	0	0	0	1	0	101	242					A	7752044	G	A	7752044	3	1	86	1	0	0	0	0	1	0	0	0	8168	1174	41	2	2468	2	KDM6B	17	7752044	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	174950	7752044	73443166	91	32993											
HAP1	9001	broad.mit.edu	37	chr17	39881075	39881075	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggcatcttgccagttggCcagctgctggaggacataat	13	9	1	0	rs537536210		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:39881075C>T	ENST00000310778.5	-	12	1903	c.1894G>A	c.(1894-1896)Gcc>Acc	p.A632T	HAP1_ENST00000347901.4_Missense_Mutation_p.A580T|HAP1_ENST00000393939.2_Missense_Mutation_p.A555T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.A563T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	632					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGCCAGTTGGCCAGCTGCTGG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15235	0.0		0.0	False		,,,				2504	0.0					ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1663-1665)Gcc>Acc		huntingtin-associated protein 1							122	123	122					17																	39881075		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881075C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1894G>A	17.37:g.39881075C>T	ENSP00000309392:p.Ala632Thr					HAP1_ENST00000310778.5_Missense_Mutation_p.A632T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.A580T|HAP1_ENST00000341193.5_Missense_Mutation_p.A563T	p.A555T			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1672	-		Breast(137;0.000162)	632			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1663G>A		.	.	.	.	.	.	.	.	.	.	C	13.04	2.117571	0.37339	.	.	ENSG00000173805	ENST00000458656;ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T;T	0.44881	1.32;0.91;3.15;3.41;3.27;3.16	4.14	2.06	0.26882	.	0.560677	0.15052	N	0.283242	T	0.36138	0.0956	L	0.27053	0.805	0.09310	N	0.99999	P;D;D;D	0.56968	0.872;0.965;0.974;0.978	P;P;P;P	0.54270	0.578;0.546;0.747;0.563	T	0.10064	-1.0646	10	0.32370	T	0.25	-11.1038	4.8636	0.13596	0.219:0.6683:0.0:0.1127	.	555;563;580;632	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	T	87;49;555;632;580;563	ENSP00000404640:A87T;ENSP00000388981:A49T;ENSP00000377513:A555T;ENSP00000309392:A632T;ENSP00000334002:A580T;ENSP00000343170:A563T	ENSP00000309392:A632T	A	-	1	0	HAP1	37134601	0.215000	0.23574	0.948000	0.38648	0.014000	0.08584	-0.225000	0.09151	0.459000	0.27016	-0.350000	0.07774	GCC		0.627	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		7	633	0	0	0	1	0	7	633					T	39881075	C	T	39881075	3	4	86	1	0	0	0	0	1	0	0	0	6983	739	26	2	125	2	HAP1	17	39881075	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	32129031	39881075	41314135	92	32994											
CCR10	2826	broad.mit.edu	37	chr17	40832279	40832279	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atacaggccaggaagaggaaGccggcgtggaaggaggccga	18	8	0	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:40832279G>C	ENST00000332438.4	-	2	400	c.381C>G	c.(379-381)ggC>ggG	p.G127G	CTD-3193K9.3_ENST00000592440.1_RNA|CNTNAP1_ENST00000264638.4_5'Flank|CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	127					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)		GGAAGAGGAAGCCGGCGTGGA	0.706																																						ENST00000332438.4																			0				lung(1)|ovary(1)|skin(1)	3						c.(379-381)ggC>ggG		chemokine (C-C motif) receptor 10							10	14	13					17																	40832279		2147	4236	6383	SO:0001819	synonymous_variant	2826					integral to plasma membrane		g.chr17:40832279G>C	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.381C>G	17.37:g.40832279G>C						CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	p.G127G	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	400	-		Breast(137;0.000153)	127					Q4V749|Q6T7X2|Q9NZG2	Silent	SNP	ENST00000332438.4	37	c.381C>G	CCDS11435.1																																																																																				0.706	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		5	22	0	0	0	1	0	5	22					C	40832279	G	C	40832279	2	2	86	1	0	0	0	0	0	0	0	1	2949	958	34	5		5	CCR10	17	40832279	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	951204	40832279	40362931	93	32995											
ARMC7	79637	broad.mit.edu	37	chr17	73125037	73125037	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagatcttcctggaggacttCtgctccccccgccaggtggc	11	16	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:73125037C>A	ENST00000245543.1	+	3	803	c.501C>A	c.(499-501)ttC>ttA	p.F167L	ARMC7_ENST00000579096.1_3'UTR|NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	167						cytoplasm (GO:0005737)		p.F167F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TGGAGGACTTCTGCTCCCCCC	0.701																																						ENST00000245543.1																			1	Substitution - coding silent(1)	p.F167F(1)	lung(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9						c.(499-501)ttC>ttA		armadillo repeat containing 7							16	16	16					17																	73125037		2203	4298	6501	SO:0001583	missense	79637						binding	g.chr17:73125037C>A	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"Armadillo repeat containing"	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.501C>A	17.37:g.73125037C>A	ENSP00000245543:p.Phe167Leu					ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	p.F167L	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	803	+	all_lung(278;0.14)|Lung NSC(278;0.168)		167					B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.501C>A	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969018	0.34754	.	.	ENSG00000125449	ENST00000245543	T	0.32272	1.46	5.18	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.478366	0.24633	N	0.036863	T	0.18923	0.0454	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	10	0.35671	T	0.21	.	10.8273	0.46640	0.0:0.7987:0.0:0.2013	.	167	Q9H6L4	ARMC7_HUMAN	L	167	ENSP00000245543:F167L	ENSP00000245543:F167L	F	+	3	2	ARMC7	70636632	1.000000	0.71417	0.968000	0.41197	0.367000	0.29736	2.074000	0.41529	1.338000	0.45544	-0.137000	0.14449	TTC		0.701	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		18	76	1	0	2.5808e-16	1	2.9826e-16	18	76					A	73125037	C	A	73125037	3	1	86	1	0	0	0	0	1	0	0	0	957	912	32	3	511	3	ARMC7	17	73125037	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	32292758	73125037	8070173	94	32996											
RNF213	57674	broad.mit.edu	37	chr17	78317808	78317808	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agtgccgtcgaggagctcttCagcgctggtctgtactgtgg	15	10	3	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:78317808C>A	ENST00000582970.1	+	28	6478	c.6335C>A	c.(6334-6336)tCa>tAa	p.S2112*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2161*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.S185*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2112					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)			AGGAGCTCTTCAGCGCTGGTC	0.522																																						ENST00000582970.1																			0				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						c.(6334-6336)tCa>tAa		ring finger protein 213							66	63	64					17																	78317808		2203	4300	6503	SO:0001587	stop_gained	57674							g.chr17:78317808C>A	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.6335C>A	17.37:g.78317808C>A	ENSP00000464087:p.Ser2112*					RNF213_ENST00000336301.6_Nonsense_Mutation_p.S185*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.S2161*	p.S2112*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		28	6478	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.6335C>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	48	13.985513	0.99773	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	.	.	.	5.92	4.95	0.65309	.	0.399782	0.20762	N	0.086149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4264	0.55548	0.0:0.9217:0.0:0.0783	.	.	.	.	X	2112;2161;185	.	ENSP00000338218:S185X	S	+	2	0	RNF213	75932403	0.134000	0.22483	0.040000	0.18447	0.023000	0.10783	2.516000	0.45520	1.516000	0.48900	0.561000	0.74099	TCA		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		7	269	1	0	1	1	1	7	269					A	78317808	C	A	78317808	4	1	86	1	0	0	0	0	0	1	0	0	13527	838	29	3	6760	3	RNF213	17	78317808	Nonsense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	5192771	78317808	2877402	95	32997											
MC5R	4161	broad.mit.edu	37	chr18	13826098	13826098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatagcagacgcctttgtgCgccacattgacaatgtgttt	10	9	0	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:13826098C>T	ENST00000324750.3	+	1	556	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	112					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGCCTTTGTGCGCCACATTGA	0.522																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(334-336)Cgc>Tgc		melanocortin 5 receptor							152	124	133					18																	13826098		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826098C>T	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.334C>T	18.37:g.13826098C>T	ENSP00000318077:p.Arg112Cys						p.R112C	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	556	+			112					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.334C>T	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704257	0.48412	.	.	ENSG00000176136	ENST00000324750	T	0.20738	2.05	4.9	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.103679	0.64402	D	0.000005	T	0.33789	0.0875	L	0.39898	1.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.02909	-1.1095	10	0.87932	D	0	.	10.9647	0.47406	0.1464:0.7129:0.1407:0.0	.	112	P33032	MC5R_HUMAN	C	112	ENSP00000318077:R112C	ENSP00000318077:R112C	R	+	1	0	MC5R	13816098	1.000000	0.71417	0.932000	0.37286	0.749000	0.42624	2.825000	0.48096	0.467000	0.27218	-0.384000	0.06662	CGC		0.522	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		65	124	0	0	0	1	0	65	124					T	13826098	C	T	13826098	3	4	86	1	0	0	0	0	1	0	0	0	9408	768	27	1	336	1	MC5R	18	13826098	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		13826098	64251150	96	32998											
DSG2	1829	broad.mit.edu	37	chr18	29111024	29111024	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aaagcagcttttcacaagtcGattaggagtaaatacaagcc	8	8	1	0	rs372598337		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:29111024G>T	ENST00000261590.8	+	9	1298	c.1089G>T	c.(1087-1089)tcG>tcT	p.S363S		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	363	Cadherin 3. {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)			TTCACAAGTCGATTAGGAGTA	0.363																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(1087-1089)tcG>tcT		desmoglein 2							135	123	127					18																	29111024		1848	4091	5939	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29111024G>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1089G>T	18.37:g.29111024G>T							p.S363S	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		9	1298	+			363			Cadherin 3.		Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.1089G>T	CCDS42423.1																																																																																				0.363	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		4	228	1	0	1	1	1	4	228					T	29111024	G	T	29111024	2	4	86	1	0	0	0	0	0	0	0	1	4793	1045	37	3		3	DSG2	18	29111024	Silent	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	15284926	29111024	48966224	97	32999											
SMAD4	4089	broad.mit.edu	37	chr18	48604697	48604698	+	Frame_Shift_Del	DEL	AA	AA	-													tactcaggatgagttttgtgAaaggctggggaccggattac							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:48604697_48604698delAA	ENST00000342988.3	+	12	2057_2058	c.1519_1520delAA	c.(1519-1521)aaafs	p.K507fs	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.K507fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.K411fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	507	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.K507Q(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)		GAGTTTTGTGAAAGGCTGGGGA	0.47																																						ENST00000342988.3																			40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)	p.0?(36)|p.?(2)|p.K507Q(2)	pancreas(26)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(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						c.(1519-1521)afs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604697_48604698delAA	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.1519_1520delAA	18.37:g.48604697_48604698delAA	ENSP00000341551:p.Lys507fs					SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.K507fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.K411fs	p.K507fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2057_2058	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	507			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1519_1520delAA	CCDS11950.1																																																																																				0.47	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		61	177						61	177	---	---	---	---	-	48604698	AA	-	48604697	7	5	86	1	0	1	0	1	0	0	0	0	14810	247	9	0	1561	0	SMAD4	18	48604697	Frame_Shift_Del	DEL	AA	TCGA-IB-A5SS-01A-11D-A32N-08	19493673	48604697	29472551	98	33000											
OR2Z1	284383	broad.mit.edu	37	chr19	8841649	8841649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatggcatcagactttctgCggggagaaggtgccacctcc	13	11	2	3	rs199861220	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:8841649C>T	ENST00000324060.2	+	1	334	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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						AGACTTTCTGCGGGGAGAAGG	0.552													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20989	0.001		0.0	False		,,,				2504	0.0					ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(259-261)Cgg>Tgg		olfactory receptor, family 2, subfamily Z, member 1		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	108	95	100		259	3	0	19		100	0,8600		0,0,4300	no	missense	OR2Z1	NM_001004699.1	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	87/315	8841649	1,13005	2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841649C>T	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.259C>T	19.37:g.8841649C>T	ENSP00000316284:p.Arg87Trp						p.R87W	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	334	+			87					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.259C>T	CCDS32895.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.412	-0.335123	0.05278	2.27E-4	0.0	ENSG00000181733	ENST00000324060	T	0.00406	7.55	4.33	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	2.610920	0.01162	N	0.006663	T	0.00384	0.0012	L	0.39514	1.22	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49606	-0.8922	10	0.38643	T	0.18	.	7.9281	0.29887	0.0:0.8369:0.0:0.1631	.	87	Q8NG97	OR2Z1_HUMAN	W	87	ENSP00000316284:R87W	ENSP00000316284:R87W	R	+	1	2	OR2Z1	8702649	0.000000	0.05858	0.009000	0.14445	0.011000	0.07611	-0.537000	0.06128	2.182000	0.69389	0.543000	0.68304	CGG		0.552	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			5	539	0	0	0	1	0	5	539					T	8841649	C	T	8841649	3	4	86	1	0	0	0	0	1	0	0	0	11078	759	27	1	261	1	OR2Z1	19	8841649	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		8841649	50287334	99	33001											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		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.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		5	638	0	0	0	1	0	5	638					C	12155673	A	C	12155673	3	2	86	1	0	0	0	0	1	0	0	0	18249	40	2	4	1056	4	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-IB-A5SS-01A-11D-A32N-08	3314024	12155673	46973310	100	33002											
LSR	51599	broad.mit.edu	37	chr19	35753550	35753550	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcacacttgctgctgctacGtcaggtgcccctgctgccca	10	17	1	0	rs540686530		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:35753550G>A	ENST00000361790.3	+	5	1036	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	LSR_ENST00000347609.4_Missense_Mutation_p.V256I|LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000602122.1_Missense_Mutation_p.V274I|LSR_ENST00000427250.1_Intron|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	293	Cys-rich.				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)			CTGCTGCTACGTCAGGTGCCC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17474	0.0		0.001	False		,,,				2504	0.0					ENST00000602122.1																			0				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						c.(820-822)Gtc>Atc		lipolysis stimulated lipoprotein receptor							100	80	87					19																	35753550		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35753550G>A	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.877G>A	19.37:g.35753550G>A	ENSP00000354575:p.Val293Ile					LSR_ENST00000361790.3_Missense_Mutation_p.V293I|LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000347609.4_Missense_Mutation_p.V256I|LSR_ENST00000427250.1_Intron	p.V274I			Q86X29	LSR_HUMAN	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)		4	1307	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		293					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.820G>A	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862120	0.71949	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000347609	T;T;T	0.57107	0.42;0.42;0.42	4.74	4.74	0.60224	LISCH7 (1);	0.065915	0.64402	D	0.000014	T	0.57286	0.2043	L	0.34521	1.04	0.80722	D	1	D;D;D;P	0.76494	0.999;0.977;0.982;0.84	P;P;P;B	0.61070	0.883;0.525;0.562;0.344	T	0.52155	-0.8613	10	0.27785	T	0.31	-37.3992	15.256	0.73585	0.0:0.0:1.0:0.0	.	256;274;274;293	Q86X29-2;Q86X29-3;E9PHD4;Q86X29	.;.;.;LSR_HUMAN	I	293;274;256	ENSP00000354575:V293I;ENSP00000346976:V274I;ENSP00000262627:V256I	ENSP00000262627:V256I	V	+	1	0	LSR	40445390	1.000000	0.71417	0.946000	0.38457	0.967000	0.64934	4.937000	0.63513	2.448000	0.82819	0.591000	0.81541	GTC		0.627	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		74	343	0	0	0	1	0	74	343					A	35753550	G	A	35753550	3	1	86	1	0	0	0	0	1	0	0	0	9102	1145	40	1	895	1	LSR	19	35753550	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	23597877	35753550	23375433	101	33003											
ZNF780A	284323	broad.mit.edu	37	chr19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaCaccagaatgaatactctgat	5	8	2	3			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(718-720)Gta>Ata		zinc finger protein 780A							172	176	174					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile					ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I	p.V240I			O75290	Z780A_HUMAN			6	1029	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.718G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		8	1077	0	0	0	1	0	8	1077					T	40581529	C	T	40581529	3	4	86	1	0	0	0	0	1	0	0	0	18205	478	17	2	1236	2	ZNF780A	19	40581529	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	4827979	40581529	18547454	102	33004											
SHKBP1	92799	broad.mit.edu	37	chr19	41083342	41083342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgacgctgaaagatgagaccGgagcagtgagtcggacaaga	15	8	0	5			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:41083342G>A	ENST00000291842.5	+	3	230	c.181G>A	c.(181-183)Gga>Aga	p.G61R	SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGACCGGAGCAGTGAG	0.607																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(181-183)Gga>Aga		SH3KBP1 binding protein 1							51	49	49					19																	41083342		2203	4300	6503	SO:0001583	missense	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41083342G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.181G>A	19.37:g.41083342G>A	ENSP00000291842:p.Gly61Arg					SHKBP1_ENST00000600733.1_Missense_Mutation_p.G61R	p.G61R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	230	+			61			BTB.		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.181G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919628	0.92249	.	.	ENSG00000160410	ENST00000291842	T	0.50813	0.73	4.55	4.55	0.56014	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.86740	2.835	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	0.79500	-0.1778	10	0.87932	D	0	-16.0636	16.1242	0.81382	0.0:0.0:1.0:0.0	.	61;61;61	Q8TBC3-2;B2R6W9;Q8TBC3	.;.;SHKB1_HUMAN	R	61	ENSP00000291842:G61R	ENSP00000291842:G61R	G	+	1	0	SHKBP1	45775182	1.000000	0.71417	0.985000	0.45067	0.646000	0.38490	8.296000	0.89940	2.113000	0.64589	0.306000	0.20318	GGA		0.607	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		5	412	0	0	0	1	0	5	412					A	41083342	G	A	41083342	3	1	86	1	0	0	0	0	1	0	0	0	14334	1117	39	1	191	1	SHKBP1	19	41083342	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	501813	41083342	18045641	103	33005											
LTBP4	8425	broad.mit.edu	37	chr19	41123123	41123123	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggggcacgggatgggcgtcaCtgcgtgggtacgggacttca	19	9	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:41123123C>G	ENST00000308370.7	+	25	3261	c.3261C>G	c.(3259-3261)caC>caG	p.H1087Q	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000204005.9_Missense_Mutation_p.H1050Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.H141Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1088	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGGGCGTCACTGCGTGGGTA	0.622																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(3259-3261)caC>caG		latent transforming growth factor beta binding protein 4							26	27	27					19																	41123123		1980	4153	6133	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41123123C>G	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.3261C>G	19.37:g.41123123C>G	ENSP00000311905:p.His1087Gln					LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000204005.9_Missense_Mutation_p.H1050Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.H141Q|LTBP4_ENST00000602240.1_3'UTR	p.H1087Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		25	3261	+			1088			Cys-rich.|EGF-like 12; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.3261C>G		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999789	0.54147	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D	0.91631	-2.19;-2.88;-2.19;-2.88	4.19	4.19	0.49359	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.42420	D	0.000715	D	0.94138	0.8120	.	.	.	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.998	D	0.91644	0.5329	9	0.13470	T	0.59	.	15.8101	0.78552	0.0:1.0:0.0:0.0	.	1020;1088;1050	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	1050;1087;1020;141	ENSP00000204005:H1050Q;ENSP00000311905:H1087Q;ENSP00000380031:H1020Q;ENSP00000243562:H141Q	ENSP00000204005:H1050Q	H	+	3	2	LTBP4	45814963	0.611000	0.26992	1.000000	0.80357	0.994000	0.84299	-0.142000	0.10311	2.330000	0.79161	0.563000	0.77884	CAC		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		22	159	0	0	0	1	0	22	159					G	41123123	C	G	41123123	3	3	86	1	0	0	0	0	1	0	0	0	9114	565	20	5	3650	5	LTBP4	19	41123123	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	39781	41123123	18005860	104	33006											
CCDC9	26093	broad.mit.edu	37	chr19	47774764	47774764	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtccccttcagtccggaggaGcccctgctggagccccaggc	13	17	1	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:47774764G>T	ENST00000221922.6	+	12	1647	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	475							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GTCCGGAGGAGCCCCTGCTGG	0.677																																						ENST00000221922.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12						c.(1423-1425)gaG>gaT		coiled-coil domain containing 9							54	65	61					19																	47774764		2203	4300	6503	SO:0001583	missense	26093							g.chr19:47774764G>T	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1425G>T	19.37:g.47774764G>T	ENSP00000221922:p.Glu475Asp						p.E475D	NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	12	1647	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	475						Missense_Mutation	SNP	ENST00000221922.6	37	c.1425G>T	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.971115	0.53614	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.25749	1.78	4.25	0.667	0.17907	.	0.951510	0.08620	N	0.918598	T	0.17577	0.0422	L	0.33485	1.01	0.31583	N	0.654852	B	0.06786	0.001	B	0.08055	0.003	T	0.28744	-1.0034	10	0.36615	T	0.2	-8.8316	5.4815	0.16727	0.1917:0.1632:0.6451:0.0	.	475	Q9Y3X0	CCDC9_HUMAN	D	475;457	ENSP00000221922:E475D	ENSP00000221922:E475D	E	+	3	2	CCDC9	52466604	0.998000	0.40836	0.009000	0.14445	0.138000	0.21146	2.748000	0.47483	0.445000	0.26639	0.281000	0.19383	GAG		0.677	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	NM_015603		5	357	1	0	1	1	1	5	357					T	47774764	G	T	47774764	3	4	86	1	0	0	0	0	1	0	0	0	2874	962	34	3	1467	3	CCDC9	19	47774764	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	6651641	47774764	11354219	105	33007											
NUP62	23636	broad.mit.edu	37	chr19	50412865	50412865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtcgtctgtgtggccGgagtctgggtggcaagtgag	18	8	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:50412865G>A	ENST00000596217.1	-	2	2087	c.200C>T	c.(199-201)cCg>cTg	p.P67L	NUP62_ENST00000597029.1_Missense_Mutation_p.P67L|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000413454.1_Missense_Mutation_p.P67L|NUP62_ENST00000597723.1_Missense_Mutation_p.P67L|NUP62_ENST00000422090.2_Missense_Mutation_p.P67L|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000352066.3_Missense_Mutation_p.P67L			P37198	NUP62_HUMAN	nucleoporin 62kDa	67	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTGTGTGGCCGGAGTCTGGGT	0.552																																						ENST00000596217.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19						c.(199-201)cCg>cTg		nucleoporin 62kDa							150	154	153					19																	50412865		2203	4300	6503	SO:0001583	missense	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50412865G>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.200C>T	19.37:g.50412865G>A	ENSP00000471191:p.Pro67Leu					IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.P67L|NUP62_ENST00000597723.1_Missense_Mutation_p.P67L|NUP62_ENST00000352066.3_Missense_Mutation_p.P67L|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000413454.1_Missense_Mutation_p.P67L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.P67L	p.P67L			P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	2087	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	67			15 X 9 AA approximate repeats.|Thr-rich.		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	ENST00000596217.1	37	c.200C>T	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755489	0.31046	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38722	1.12;1.12;1.12	4.16	3.12	0.35913	Nucleoporin, NSP1-like, C-terminal (1);	0.403038	0.21678	U	0.070777	T	0.29716	0.0742	L	0.38531	1.155	0.42109	D	0.991379	P;P	0.47545	0.89;0.897	B;B	0.39419	0.299;0.157	T	0.13683	-1.0500	10	0.72032	D	0.01	-4.6212	7.9938	0.30256	0.1097:0.0:0.8903:0.0	.	67;67	Q8WYU3;P37198	.;NUP62_HUMAN	L	67	ENSP00000305503:P67L;ENSP00000407331:P67L;ENSP00000387991:P67L	ENSP00000321866:P67L	P	-	2	0	NUP62	55104677	0.914000	0.31030	0.018000	0.16275	0.019000	0.09904	6.760000	0.74939	1.339000	0.45563	0.655000	0.94253	CCG		0.552	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		6	610	0	0	0	1	0	6	610					A	50412865	G	A	50412865	3	1	86	1	0	0	0	0	1	0	0	0	10810	1116	39	1	1372	1	NUP62	19	50412865	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	2638101	50412865	8716118	106	33008											
KLK13	26085	broad.mit.edu	37	chr19	51561826	51561826	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccaccctcttttgtgCcggcacacaacatgttgtca	7	14	2	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:51561826C>T	ENST00000595793.1	-	4	656	c.614G>A	c.(613-615)gGc>gAc	p.G205D	KLK13_ENST00000335422.3_Missense_Mutation_p.G53D|KLK13_ENST00000595547.1_Missense_Mutation_p.G132D	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	205	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CTCTTTTGTGCCGGCACACAA	0.527																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(613-615)gGc>gAc		kallikrein-related peptidase 13							206	186	193					19																	51561826		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51561826C>T		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"Kallikreins"	6361	protein-coding gene	gene with protein product		605505	"kallikrein 13"			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.614G>A	19.37:g.51561826C>T	ENSP00000470555:p.Gly205Asp					KLK13_ENST00000335422.3_Missense_Mutation_p.G53D|KLK13_ENST00000595547.1_Missense_Mutation_p.G132D	p.G205D	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	4	656	-		all_neural(266;0.026)	205			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.614G>A	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130091	0.56721	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.90133	-2.62	4.67	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.136174	0.33732	N	0.004605	D	0.95971	0.8688	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.983;0.999;0.999	D	0.96571	0.9423	10	0.87932	D	0	.	15.4416	0.75187	0.0:1.0:0.0:0.0	.	53;132;205	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	D	205;53	ENSP00000334079:G53D	ENSP00000156476:G205D	G	-	2	0	KLK13	56253638	0.998000	0.40836	0.858000	0.33744	0.171000	0.22731	6.159000	0.71856	2.588000	0.87417	0.561000	0.74099	GGC		0.527	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		6	490	0	0	0	1	0	6	490					T	51561826	C	T	51561826	3	4	86	1	0	0	0	0	1	0	0	0	8431	739	26	2	227	2	KLK13	19	51561826	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	1148961	51561826	7567157	107	33009											
KIR3DL1	3811	broad.mit.edu	37	chr19	55333120	55333120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggagctcctatgacatGtaccatctatccagggaggg	11	12	1	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:55333120G>A	ENST00000391728.4	+	5	789	c.756G>A	c.(754-756)atG>atA	p.M252I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	252	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)		CCTATGACATGTACCATCTAT	0.587																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(754-756)atG>atA		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							16	17	16					19																	55333120		2087	4000	6087	SO:0001583	missense	3811							g.chr19:55333120G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.756G>A	19.37:g.55333120G>A	ENSP00000375608:p.Met252Ile					KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.M252I	p.M252I	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	5	789	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.756G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.425	-0.906123	0.02453	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	1.47	-2.94	0.05581	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.298930	0.01900	N	0.039137	T	0.12390	0.0301	N	0.17594	0.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.004;0.001;0.009	T	0.25572	-1.0128	10	0.19147	T	0.46	.	5.1298	0.14903	0.0:0.1775:0.4406:0.3819	.	252;157;252;252	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	I	252;252;252;230;252;252;157	ENSP00000384528:M252I;ENSP00000443350:M252I;ENSP00000442355:M252I;ENSP00000375608:M252I;ENSP00000326868:M252I;ENSP00000350901:M157I	ENSP00000326868:M252I	M	+	3	0	KIR3DL1	60024932	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.385000	0.20685	-3.201000	0.00217	-3.594000	0.00028	ATG		0.587	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		55	100	0	0	0	1	0	55	100					A	55333120	G	A	55333120	3	1	86	1	0	0	0	0	1	0	0	0	8350	1377	48	2	774	2	KIR3DL1	19	55333120	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	3771294	55333120	3795863	108	33010											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3145122	3145122	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatttctgtggactcaatgCgctcgaggcgggagggggtc	17	8	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:3145122C>T	ENST00000329152.3	-	3	3397	c.2000G>A	c.(1999-2001)cGc>cAc	p.R667H	LZTS3_ENST00000337576.5_Missense_Mutation_p.R621H|LZTS3_ENST00000360342.3_Missense_Mutation_p.R621H			O60299	LZTS3_HUMAN		667						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GGACTCAATGCGCTCGAGGCG	0.647																																						ENST00000329152.3																			0											c.(1999-2001)cGc>cAc									57	59	58					20																	3145122		2203	4300	6503	SO:0001583	missense	0							g.chr20:3145122C>T																												ENST00000329152.3:c.2000G>A	20.37:g.3145122C>T	ENSP00000332123:p.Arg667His					LZTS3_ENST00000360342.3_Missense_Mutation_p.R621H|LZTS3_ENST00000337576.5_Missense_Mutation_p.R621H	p.R667H	NM_014731.2	NP_055546.1					3	3397	-								A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	ENST00000329152.3	37	c.2000G>A	CCDS13049.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274509	0.80580	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.43294	0.95;1.09;1.09	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.27053	0.805	0.52099	D	0.999942	D;D	0.89917	1.0;0.998	D;D	0.69479	0.96;0.964	T	0.57768	-0.7754	10	0.72032	D	0.01	-15.1298	17.8165	0.88635	0.0:1.0:0.0:0.0	.	621;667	O60299-2;O60299	.;PRIP1_HUMAN	H	667;621;621	ENSP00000332123:R667H;ENSP00000353496:R621H;ENSP00000338166:R621H	ENSP00000332123:R667H	R	-	2	0	RP5-1187M17.10	3093122	0.975000	0.34042	1.000000	0.80357	0.961000	0.63080	2.377000	0.44300	2.442000	0.82660	0.555000	0.69702	CGC		0.647	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			5	434	0	0	0	1	0	5	434					T	3145122	C	T	3145122	3	4	86	1	0	0	0	0	1	0	0	0	12920	768	27	1	25	1	ProSAPiP1	20	3145122	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		3145122	59880398	109	33011											
CDH26	60437	broad.mit.edu	37	chr20	58574705	58574705	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacagctgcagcaggacccaCgcagggagttaaggtaacat	12	11	0	0	rs367650551		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:58574705C>T	ENST00000244047.5	+	14	2395	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.T28M|CDH26_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000348616.4_Missense_Mutation_p.T695M			Q8IXH8	CAD26_HUMAN	cadherin 26	695					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)			GCAGGACCCACGCAGGGAGTT	0.522																																						ENST00000348616.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44						c.(2083-2085)aCg>aTg		cadherin 26		C	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	84	81	82		83,2084	-5.8	0	20		82	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDH26	NM_021810.4,NM_177980.2	81,81	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging	28/166,695/833	58574705	3,13003	2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58574705C>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2084C>T	20.37:g.58574705C>T	ENSP00000244047:p.Thr695Met					CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000244047.5_Missense_Mutation_p.T695M|CDH26_ENST00000244049.3_Missense_Mutation_p.T28M	p.T695M	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		14	2384	+	all_lung(29;0.00963)		695					A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.2084C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.687|2.687	-0.274118|-0.274118	0.05679|0.05679	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616;ENST00000244049;ENST00000350849;ENST00000456106	.|T;T;T	.|0.59638	.|0.25;0.54;0.54	2.88|2.88	-5.76|-5.76	0.02376|0.02376	.|.	.|.	.|.	.|.	.|.	T|T	0.22704|0.22704	0.0548|0.0548	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P;P;B	.|0.43024	.|0.798;0.798;0.474;0.434	.|B;B;B;B	.|0.32465	.|0.094;0.146;0.032;0.07	T|T	0.20940|0.20940	-1.0260|-1.0260	5|9	.|0.34782	.|T	.|0.22	.|.	2.0821|2.0821	0.03637|0.03637	0.2073:0.422:0.0986:0.2721|0.2073:0.422:0.0986:0.2721	.|.	.|28;28;695;695	.|Q8IXH8-5;Q8IXH8-2;Q8IXH8;Q8IXH8-4	.|.;.;CAD26_HUMAN;.	C|M	287|695;695;28;28;28	.|ENSP00000244047:T695M;ENSP00000339390:T695M;ENSP00000310845:T28M	.|ENSP00000244047:T695M	R|T	+|+	1|2	0|0	CDH26|CDH26	58008100|58008100	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.002000|-2.002000	0.01464|0.01464	-1.744000|-1.744000	0.01338|0.01338	-3.845000|-3.845000	0.00018|0.00018	CGC|ACG		0.522	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		51	229	0	0	0	1	0	51	229					T	58574705	C	T	58574705	3	4	86	1	0	0	0	0	1	0	0	0	3119	536	19	1	2160	1	CDH26	20	58574705	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	55429583	58574705	4450815	110	33012											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					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)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	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.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	145						8	145	---	---	---	---	G	61512381	-	G	61512380	7	5	86	1	0	1	1	0	0	0	0	0	4538	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-IB-A5SS-01A-11D-A32N-08	2937675	61512380	1513140	111	33013											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-													tgcagcagcagcagcagctcCagcagcagcagcagcagcag					rs374794651		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	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)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	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.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	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)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	129						8	129	---	---	---	---	-	20918918	CAG	-	20918916	7	5	86	1	0	1	0	1	0	0	0	0	9474	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-IB-A5SS-01A-11D-A32N-08		20918916	30385650	112	33014											
RFPL1	5988	broad.mit.edu	37	chr22	29835118	29835118	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccaagctgaagaagaTtctgcagatgaacccaagga	12	9	1	5			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:29835118T>A	ENST00000354373.2	+	1	547	c.338T>A	c.(337-339)aTt>aAt	p.I113N	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	113	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CTGAAGAAGATTCTGCAGATG	0.512																																						ENST00000354373.2																			0				endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						c.(337-339)aTt>aAt		ret finger protein-like 1							127	121	123					22																	29835118		2203	4300	6503	SO:0001583	missense	5988						zinc ion binding	g.chr22:29835118T>A	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"RING-type (C3HC4) zinc fingers"	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.338T>A	22.37:g.29835118T>A	ENSP00000346342:p.Ile113Asn					RFPL1S_ENST00000461286.2_RNA	p.I113N	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN			1	547	+			113			B30.2/SPRY.		Q6IC06|Q9UJ97	Missense_Mutation	SNP	ENST00000354373.2	37	c.338T>A	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	12.72	2.023419	0.35701	.	.	ENSG00000128250	ENST00000354373	T	0.30448	1.53	1.66	-1.88	0.07713	RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.37705	0.1013	L	0.52573	1.65	0.09310	N	1	D	0.59767	0.986	D	0.69307	0.963	T	0.24333	-1.0163	9	0.37606	T	0.19	.	2.2276	0.03988	0.0:0.235:0.315:0.45	.	113	O75677	RFPL1_HUMAN	N	113	ENSP00000346342:I113N	ENSP00000346342:I113N	I	+	2	0	RFPL1	28165118	0.004000	0.15560	0.004000	0.12327	0.209000	0.24338	-0.522000	0.06237	-0.097000	0.12307	0.342000	0.21767	ATT		0.512	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026		6	440	0	0	0	1	0	6	440					A	29835118	T	A	29835118	3	1	86	1	0	0	0	0	1	0	0	0	13303	1493	52	5	340	5	RFPL1	22	29835118	Missense_Mutation	SNP	T	TCGA-IB-A5SS-01A-11D-A32N-08	8916202	29835118	21469448	113	33015											
CACNG2	10369	broad.mit.edu	37	chr22	36960760	36960760	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgcagctgtttgtgccGgtcgataaacatgtgcaccg	13	12	0	0			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:36960760G>A	ENST00000300105.6	-	4	1591	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	204					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						TGTTTGTGCCGGTCGATAAAC	0.627																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(610-612)Cgg>Tgg		calcium channel, voltage-dependent, gamma subunit 2							99	115	110					22																	36960760		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960760G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.610C>T	22.37:g.36960760G>A	ENSP00000300105:p.Arg204Trp						p.R204W	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1591	-			204					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.610C>T	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964618	0.74131	.	.	ENSG00000166862	ENST00000300105	T	0.41065	1.01	5.47	5.47	0.80525	.	0.124937	0.56097	D	0.000032	T	0.60830	0.2299	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.63093	-0.6714	10	0.87932	D	0	-9.67	19.3133	0.94199	0.0:0.0:1.0:0.0	.	204	Q9Y698	CCG2_HUMAN	W	204	ENSP00000300105:R204W	ENSP00000300105:R204W	R	-	1	2	CACNG2	35290706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.488000	0.81441	2.575000	0.86900	0.655000	0.94253	CGG		0.627	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			7	960	0	0	0	1	0	7	960					A	36960760	G	A	36960760	3	1	86	1	0	0	0	0	1	0	0	0	2564	1115	39	1	365	1	CACNG2	22	36960760	Missense_Mutation	SNP	G	TCGA-IB-A5SS-01A-11D-A32N-08	7125642	36960760	14343806	114	33016											
CACNA1I	8911	broad.mit.edu	37	chr22	40042649	40042649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagaccaagcaacgggagCaccggctgatgctggagcag	16	11	0	2			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:40042649C>T	ENST00000402142.3	+	8	1225	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	CACNA1I_ENST00000401624.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000336649.4_Missense_Mutation_p.H409Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	409					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)	GCAACGGGAGCACCGGCTGAT	0.607																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1225-1227)Cac>Tac		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						13	15	14					22																	40042649		2102	4229	6331	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40042649C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1225C>T	22.37:g.40042649C>T	ENSP00000385019:p.His409Tyr					CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000402142.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H409Y	p.H409Y			Q9P0X4	CAC1I_HUMAN			10	1225	+	Melanoma(58;0.0749)		409					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.1225C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144395	0.37825	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96885	-4.14;-4.09;-4.13;-4.09;-4.16;-4.06	3.49	3.49	0.39957	.	0.300797	0.30151	U	0.010282	D	0.96725	0.8931	M	0.63843	1.955	0.50813	D	0.999896	P;D;P;D	0.63880	0.919;0.969;0.919;0.993	B;P;B;D	0.72982	0.441;0.792;0.441;0.979	D	0.95148	0.8270	10	0.02654	T	1	.	15.8737	0.79145	0.0:1.0:0.0:0.0	.	409;409;409;409	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Y	409	ENSP00000385019:H409Y;ENSP00000384093:H409Y;ENSP00000383887:H409Y;ENSP00000385680:H409Y;ENSP00000337829:H409Y;ENSP00000383028:H409Y	ENSP00000337829:H409Y	H	+	1	0	CACNA1I	38372595	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.658000	0.37376	1.899000	0.54978	0.305000	0.20034	CAC		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		6	22	0	0	0	1	0	6	22					T	40042649	C	T	40042649	3	4	86	1	0	0	0	0	1	0	0	0	2553	710	25	2	1255	2	CACNA1I	22	40042649	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	3081889	40042649	11261917	115	33017											
SBF1	6305	broad.mit.edu	37	chr22	50900742	50900742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggaggtagctcatgCggttggcatagtggatggcc	18	7	1	0	rs200624784		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:50900742C>T	ENST00000390679.3	-	19	2472	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	SBF1_ENST00000380817.3_Missense_Mutation_p.R763H|SBF1_ENST00000348911.6_Missense_Mutation_p.R764H			O95248	MTMR5_HUMAN	SET binding factor 1	763					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)		GTAGCTCATGCGGTTGGCATA	0.647																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2287-2289)cGc>cAc		SET binding factor 1		C	HIS/ARG	0,4308		0,0,2154	58	65	63		2288	4.5	1	22		63	1,8493		0,1,4246	yes	missense	SBF1	NM_002972.2	29	0,1,6400	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	763/1894	50900742	1,12801	2154	4247	6401	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900742C>T	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.2288G>A	22.37:g.50900742C>T	ENSP00000375097:p.Arg763His					SBF1_ENST00000348911.6_Missense_Mutation_p.R764H|SBF1_ENST00000390679.3_Missense_Mutation_p.R763H	p.R763H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	19	2471	-		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)	763					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2288G>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.503927	0.85176	0.0	1.18E-4	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.49432	0.78;0.78;0.78	4.52	4.52	0.55395	.	0.933584	0.09027	N	0.859341	T	0.69593	0.3128	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.66716	0.946;0.938;0.938	T	0.66516	-0.5904	10	0.59425	D	0.04	.	17.0388	0.86483	0.0:1.0:0.0:0.0	.	763;764;763	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	H	763;764;774;773;763	ENSP00000370196:R763H;ENSP00000252027:R764H;ENSP00000375097:R763H	ENSP00000336522:R773H	R	-	2	0	SBF1	49247608	0.984000	0.35163	1.000000	0.80357	0.965000	0.64279	1.018000	0.30002	2.366000	0.80165	0.655000	0.94253	CGC		0.647	SBF1-201	KNOWN	basic	protein_coding	protein_coding				5	358	0	0	0	1	0	5	358					T	50900742	C	T	50900742	3	4	86	1	0	0	0	0	1	0	0	0	13908	768	27	1	3485	1	SBF1	22	50900742	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	10858093	50900742	403824	116	33018											
SLC25A6	293	broad.mit.edu	37	chrX	1505518	1505518	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatcaccttcttgagctcgtCgtacaggaccagcacgaagg	11	12	2	1			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:1505518C>A	ENST00000381401.5	-	4	1588	c.874G>T	c.(874-876)Gac>Tac	p.D292Y	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	292					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)	TTGAGCTCGTCGTACAGGACC	0.607																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(874-876)Gac>Tac		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						218	204	208					X																	1505518		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1505518C>A	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.874G>T	X.37:g.1505518C>A	ENSP00000370808:p.Asp292Tyr						p.D292Y	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			4	1588	-		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)	292					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.874G>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.035568	0.35893	.	.	ENSG00000169100	ENST00000381401	D	0.82081	-1.57	1.85	0.934	0.19477	Mitochondrial carrier domain (2);	0.000000	0.51477	U	0.000085	D	0.92964	0.7761	H	0.97829	4.085	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84916	0.0851	10	0.87932	D	0	.	8.2615	0.31788	0.0:0.8669:0.0:0.1331	.	292	P12236	ADT3_HUMAN	Y	292	ENSP00000370808:D292Y	ENSP00000370808:D292Y	D	-	1	0	SLC25A6	1465518	1.000000	0.71417	0.651000	0.29564	0.948000	0.59901	5.933000	0.70130	0.086000	0.17137	0.402000	0.26972	GAC		0.607	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		6	607	1	0	4.096e-09	1	4.59609e-09	6	607					A	1505518	C	A	1505518	3	1	86	1	0	0	0	0	1	0	0	0	14563	884	31	3	26	3	SLC25A6	23	1505518	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08		1505518	153765042	117	33019											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	9	17	2	1	rs368685662		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										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						TCTCCGCCCACAGCCTCCCAA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(673-675)Cag>Gag		family with sequence similarity 47, member C							41	41	41					X																	37027156		2202	4298	6500	SO:0001583	missense	442444							g.chrX:37027156C>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.673C>G	X.37:g.37027156C>G	ENSP00000367913:p.Gln225Glu						p.Q225E	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	725	+			225					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.673C>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.683783	0.00101	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.96	0.96	0.19631	.	.	.	.	.	T	0.01870	0.0059	N	0.00114	-2.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	9	0.02654	T	1	.	2.8694	0.05611	0.2407:0.2933:0.466:0.0	.	225	Q5HY64	FA47C_HUMAN	E	225	ENSP00000367913:Q225E	ENSP00000367913:Q225E	Q	+	1	0	FAM47C	36937077	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-3.060000	0.00624	-1.049000	0.03234	-1.043000	0.02367	CAG		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	265	0	0	0	1	0	5	265					G	37027156	C	G	37027156	3	3	86	1	0	0	0	0	1	0	0	0	5596	479	17	5	675	5	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-IB-A5SS-01A-11D-A32N-08	35521638	37027156	118243404	118	33020											
USP26	83844	broad.mit.edu	37	chrX	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-													tactcaagctcttctgctccAaaaaaaagatcaaaagtaga							TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	487	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			3	Insertion - Frameshift(3)	p.G488fs*6(2)|p.F487fs*7(1)	central_nervous_system(3)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1459-1461)ttfs		ubiquitin specific peptidase 26							122	123	122					X																	132160788		2203	4300	6503	SO:0001589	frameshift_variant	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160788delA	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1461delT	X.37:g.132160788delA	ENSP00000423390:p.Phe487fs					USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1930	-	Acute lymphoblastic leukemia(192;0.000127)		487					B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	c.1461delT	CCDS14635.1																																																																																				0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		7	482						7	482	---	---	---	---	-	132160788	A	-	132160788	7	5	86	1	0	1	0	1	0	0	0	0	17111	127	5	0	1283	0	USP26	23	132160788	Frame_Shift_Del	DEL	A	TCGA-IB-A5SS-01A-11D-A32N-08	95133632	132160788	23109772	119	33021											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17950895	17950895	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagttttccaagtccaTggtgctagatgtgtacagtg	11	7	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:17950895T>A	ENST00000361221.3	+	13	1373	c.1214T>A	c.(1213-1215)aTg>aAg	p.M405K	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.M183K|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M405K|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.M163K|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.M366K	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	405	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCCAAGTCCATGGTGCTAGAT	0.572																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1213-1215)aTg>aAg		Rho guanine nucleotide exchange factor (GEF) 10-like							269	216	234					1																	17950895		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17950895T>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1214T>A	1.37:g.17950895T>A	ENSP00000355060:p.Met405Lys					ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.M163K|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.M183K|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M405K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Intron	p.M405K	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	13	1373	+		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)	405			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1214T>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473023	0.84640	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.045343	0.85682	D	0.000000	T	0.51346	0.1669	M	0.63428	1.95	0.80722	D	1	D;P;D;D;D;D;D	0.89917	0.992;0.866;1.0;0.979;0.991;0.998;0.998	D;P;D;P;P;D;D	0.75484	0.944;0.735;0.986;0.906;0.907;0.938;0.963	T	0.54669	-0.8259	10	0.72032	D	0.01	-31.4791	13.0024	0.58683	0.0:0.0:0.0:1.0	.	183;163;405;171;366;366;405	Q5VXI4;B4DTE2;Q9HCE6-5;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	K	405;366;405;366;163;183;183	ENSP00000355060:M405K;ENSP00000399401:M366K;ENSP00000394621:M405K;ENSP00000364564:M366K;ENSP00000364569:M163K;ENSP00000364557:M183K	ENSP00000355060:M405K	M	+	2	0	ARHGEF10L	17823482	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.619000	0.83057	1.759000	0.51996	0.459000	0.35465	ATG		0.572	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		7	857	0	0	0	1	0	7	857					A	17950895	T	A	17950895	3	1	87	1	0	0	0	0	1	0	0	0	895	1464	51	5	1260	5	ARHGEF10L	1	17950895	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08		17950895	231299726	1	33022											
UBR4	23352	broad.mit.edu	37	chr1	19488948	19488948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaatcttcctcttccaccGccaactcctccacccagtct	5	19	3	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:19488948G>A	ENST00000375254.3	-	35	4949	c.4922C>T	c.(4921-4923)gCg>gTg	p.A1641V	UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375267.2_Missense_Mutation_p.A1641V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1641					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)		CTCTTCCACCGCCAACTCCTC	0.502																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4921-4923)gCg>gTg		ubiquitin protein ligase E3 component n-recognin 4							133	123	126					1																	19488948		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19488948G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4922C>T	1.37:g.19488948G>A	ENSP00000364403:p.Ala1641Val					UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V	p.A1641V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4925	-		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)	1641					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4922C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157780	0.78114	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.08	6.08	0.98989	.	0.056777	0.64402	D	0.000001	T	0.41534	0.1163	N	0.12182	0.205	0.80722	D	1	P	0.43662	0.814	B	0.26693	0.072	T	0.42582	-0.9443	10	0.32370	T	0.25	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1641	Q5T4S7	UBR4_HUMAN	V	1641;1641;1641;1641;351;857	ENSP00000364403:A1641V;ENSP00000364416:A1641V;ENSP00000364365:A1641V;ENSP00000364374:A1641V	ENSP00000364365:A1641V	A	-	2	0	UBR4	19361535	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.583000	0.82559	2.894000	0.99253	0.591000	0.81541	GCG		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	671	0	0	0	1	0	5	671					A	19488948	G	A	19488948	3	1	87	1	0	0	0	0	1	0	0	0	16958	1087	38	1	10917	1	UBR4	1	19488948	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1538053	19488948	229761673	2	33023											
PHACTR4	65979	broad.mit.edu	37	chr1	28792265	28792265	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taccacccccatagggaatgCcagatcatctagtccagtcc	7	15	2	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:28792265C>T	ENST00000373839.3	+	5	602	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	114					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGGGAATGCCAGATCATCT	0.463																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(340-342)gCc>gTc		phosphatase and actin regulator 4							157	146	150					1																	28792265		1892	4123	6015	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28792265C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.341C>T	1.37:g.28792265C>T	ENSP00000362945:p.Ala114Val					PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V	p.A114V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	5	602	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	114					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.341C>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	4.838	0.155841	0.09236	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.34275	1.37;1.37	5.03	4.1	0.47936	.	1.184050	0.06004	N	0.648230	T	0.29423	0.0733	L	0.27053	0.805	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.09377	0.004;0.002;0.003	T	0.19582	-1.0301	10	0.30854	T	0.27	0.1306	10.8568	0.46804	0.0:0.9105:0.0:0.0895	.	124;114;98	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	V	114;124;113	ENSP00000362945:A114V;ENSP00000362942:A124V	ENSP00000362942:A124V	A	+	2	0	PHACTR4	28664852	0.004000	0.15560	0.013000	0.15412	0.029000	0.11900	1.972000	0.40540	1.315000	0.45114	0.655000	0.94253	GCC		0.463	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		5	423	0	0	0	1	0	5	423					T	28792265	C	T	28792265	3	4	87	1	0	0	0	0	1	0	0	0	11854	739	26	2	405	2	PHACTR4	1	28792265	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	9303317	28792265	220458356	3	33024											
PTPRU	10076	broad.mit.edu	37	chr1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggctccccataccacaCggggcagctgcaccctgcgg	13	16	0	0	rs146215972		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630460C>T	ENST00000345512.3	+	17	2729	c.2600C>T	c.(2599-2601)aCg>aTg	p.T867M	PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.T857M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1. {ECO:0000250}.				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)		CCATACCACACGGGGCAGCTG	0.662																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2569-2571)aCg>aTg		protein tyrosine phosphatase, receptor type, U		C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	46	50	49		2570,2600,2570,2570	4.1	1	1	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense,missense,missense	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	81,81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	857/1434,867/1447,857/1441,857/1437	29630460	1,13005	2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29630460C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2600C>T	1.37:g.29630460C>T	ENSP00000334941:p.Thr867Met					PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000373779.3_Missense_Mutation_p.T857M	p.T857M			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	16	2680	+		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)	867			Mediates interaction with CTNNB1 (By similarity).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2570C>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647094	0.87958	2.27E-4	0.0	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35973	1.33;1.34;1.34;1.34;1.28;1.34	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.57536	1.79	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;P;P	0.66351	0.943;0.943;0.943;0.879;0.868	T	0.52079	-0.8623	9	.	.	.	.	16.6429	0.85134	0.0:1.0:0.0:0.0	.	857;857;857;857;867	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	M	867;857;857;857;857;857	ENSP00000334941:T867M;ENSP00000362884:T857M;ENSP00000349333:T857M;ENSP00000314987:T857M;ENSP00000392332:T857M;ENSP00000432906:T857M	.	T	+	2	0	PTPRU	29503047	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.535000	0.82014	2.592000	0.87571	0.561000	0.74099	ACG		0.662	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			6	410	0	0	0	1	0	6	410					T	29630460	C	T	29630460	3	4	87	1	0	0	0	0	1	0	0	0	12863	536	19	1	2666	1	PTPRU	1	29630460	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	838195	29630460	219620161	4	33025			1	21		2	2	20	N	G_C	8.469535e-05
PTPRU	10076	broad.mit.edu	37	chr1	29630479	29630479	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcagctgcaccctgcGgtgcgtgtcgcagaccttct	14	14	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630479G>A	ENST00000345512.3	+	17	2748	c.2619G>A	c.(2617-2619)gcG>gcA	p.A873A	PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Silent_p.A863A|PTPRU_ENST00000323874.8_Silent_p.A863A	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1. {ECO:0000250}.				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)		TGCACCCTGCGGTGCGTGTCG	0.687																																						ENST00000323874.8																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(2587-2589)gcG>gcA		protein tyrosine phosphatase, receptor type, U							49	52	51					1																	29630479		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29630479G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2619G>A	1.37:g.29630479G>A						PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000373779.3_Silent_p.A863A	p.A863A			Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	16	2699	+		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)	873			Mediates interaction with CTNNB1 (By similarity).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2589G>A	CCDS334.1																																																																																				0.687	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			6	426	0	0	0	1	0	6	426					A	29630479	G	A	29630479	2	1	87	1	0	0	0	0	0	0	0	1	12863	1103	39	1		1	PTPRU	1	29630479	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	19	29630479	219620142	5	33026			1	21		2	2	20	N	G_C	8.469535e-05
FHL3	2275	broad.mit.edu	37	chr1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagtgagcacccttgtcggGcacaaaagaacgggagccca	13	11	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:38463709G>A	ENST00000373016.3	-	4	595	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	143	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)	p.P143S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622																																						ENST00000373016.3																			1	Substitution - Missense(1)	p.P143S(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(427-429)Ccc>Tcc		four and a half LIM domains 3							92	93	92					1																	38463709		2203	4300	6503	SO:0001583	missense	2275				muscle organ development		zinc ion binding	g.chr1:38463709G>A	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.427C>T	1.37:g.38463709G>A	ENSP00000362107:p.Pro143Ser					FHL3_ENST00000485803.1_5'UTR	p.P143S	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN			4	595	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	143			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.427C>T	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494216	0.85069	.	.	ENSG00000183386	ENST00000373016	D	0.86497	-2.13	5.2	5.2	0.72013	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88919	0.6568	N	0.20401	0.57	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	0.89068	0.3467	10	0.39692	T	0.17	.	18.7241	0.91708	0.0:0.0:1.0:0.0	.	143;35;143	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	S	143	ENSP00000362107:P143S	ENSP00000362107:P143S	P	-	1	0	FHL3	38236296	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.432000	0.82394	0.462000	0.41574	CCC		0.622	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468		6	655	0	0	0	1	0	6	655					A	38463709	G	A	38463709	3	1	87	1	0	0	0	0	1	0	0	0	5905	1203	42	2	427	2	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	8833230	38463709	210786912	6	33027											
ROR1	4919	broad.mit.edu	37	chr1	64643702	64643702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcccattcgctggatgCcccctgaagccatcatgtat	9	14	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:64643702C>T	ENST00000371079.1	+	9	2353	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	ROR1_ENST00000545203.1_Missense_Mutation_p.P111S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	660	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						TCGCTGGATGCCCCCTGAAGC	0.458																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(1978-1980)Ccc>Tcc		receptor tyrosine kinase-like orphan receptor 1							77	77	77					1																	64643702		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643702C>T	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.1978C>T	1.37:g.64643702C>T	ENSP00000360120:p.Pro660Ser					ROR1_ENST00000545203.1_Missense_Mutation_p.P111S	p.P660S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2353	+			660			Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1978C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320339	0.23994	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.60299	0.2;0.2	5.98	3.07	0.35406	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42821	D	0.000655	T	0.19765	0.0475	N	0.11560	0.145	0.80722	D	1	P	0.34934	0.476	B	0.37508	0.252	T	0.05007	-1.0912	10	0.30078	T	0.28	.	9.0314	0.36260	0.0:0.7449:0.1228:0.1323	.	660	Q01973	ROR1_HUMAN	S	660;663;111	ENSP00000360120:P660S;ENSP00000441637:P111S	ENSP00000360120:P660S	P	+	1	0	ROR1	64416290	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	2.673000	0.46858	0.405000	0.25532	0.591000	0.81541	CCC		0.458	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		5	426	0	0	0	1	0	5	426					T	64643702	C	T	64643702	3	4	87	1	0	0	0	0	1	0	0	0	13576	739	26	2	2020	2	ROR1	1	64643702	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	26179993	64643702	184606919	7	33028											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		7	299						7	299	---	---	---	---	-	77334279	GCA	-	77334277	7	5	87	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-IB-A5ST-01A-11D-A32N-08	12690575	77334277	171916344	8	33029											
ABCA4	24	broad.mit.edu	37	chr1	94543309	94543309	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttaaatatgtccctccagtcGaagttggccatgtcgtcagc	9	11	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:94543309G>A	ENST00000370225.3	-	11	1577	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	ABCA4_ENST00000535735.1_Silent_p.F497F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	497					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCTCCAGTCGAAGTTGGCCA	0.537																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1489-1491)ttC>ttT		ATP-binding cassette, sub-family A (ABC1), member 4							164	156	159					1																	94543309		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94543309G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1491C>T	1.37:g.94543309G>A						ABCA4_ENST00000535735.1_Silent_p.F497F	p.F497F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	11	1577	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	497					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.1491C>T	CCDS747.1																																																																																				0.537	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		18	634	0	0	0	1	0	18	634					A	94543309	G	A	94543309	2	1	87	1	0	0	0	0	0	0	0	1	34	1049	37	1		1	ABCA4	1	94543309	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	17209032	94543309	154707312	9	33030											
SASS6	163786	broad.mit.edu	37	chr1	100573235	100573235	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtagcttcaagctttcctagTtgtacttgatttttctcacc	6	10	2	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100573235T>G	ENST00000287482.5	-	10	1235	c.1095A>C	c.(1093-1095)caA>caC	p.Q365H	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	365					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)		GCTTTCCTAGTTGTACTTGAT	0.249																																						ENST00000287482.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1093-1095)caA>caC		spindle assembly 6 homolog (C. elegans)							44	47	46					1																	100573235		2200	4288	6488	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100573235T>G	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.1095A>C	1.37:g.100573235T>G	ENSP00000287482:p.Gln365His					SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H|SASS6_ENST00000462159.1_5'UTR	p.Q365H	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	10	1235	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	365					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.1095A>C	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250271	0.39797	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.78595	-1.19;-1.19	5.86	-2.04	0.07343	.	0.097898	0.64402	D	0.000001	T	0.51363	0.1670	L	0.49350	1.555	0.39686	D	0.970979	B	0.25272	0.122	B	0.26094	0.066	T	0.37267	-0.9713	10	0.34782	T	0.22	-17.8258	8.944	0.35747	0.1162:0.4925:0.0:0.3913	.	365	Q6UVJ0	SAS6_HUMAN	H	365;338;198	ENSP00000287482:Q365H;ENSP00000440169:Q198H	ENSP00000287482:Q365H	Q	-	3	2	SASS6	100345823	0.975000	0.34042	0.975000	0.42487	0.990000	0.78478	0.142000	0.16096	-0.327000	0.08551	0.477000	0.44152	CAA		0.249	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		5	128	0	0	0	1	0	5	128					G	100573235	T	G	100573235	3	3	87	1	0	0	0	0	1	0	0	0	13900	1722	60	4	910	4	SASS6	1	100573235	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	6029926	100573235	148677386	10	33031											
DBT	1629	broad.mit.edu	37	chr1	100681577	100681577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctttgcctgtgaataccGgaggttttgatactagtata	10	6	1	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100681577G>A	ENST00000370132.4	-	6	747	c.734C>T	c.(733-735)cCg>cTg	p.P245L	DBT_ENST00000370131.3_Missense_Mutation_p.P245L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	245					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTGAATACCGGAGGTTTTGA	0.388																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(733-735)cCg>cTg		dihydrolipoamide branched chain transacylase E2							235	232	233					1																	100681577		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681577G>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.734C>T	1.37:g.100681577G>A	ENSP00000359151:p.Pro245Leu					DBT_ENST00000370131.3_Missense_Mutation_p.P245L	p.P245L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	6	747	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	245					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.734C>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	g	3.697	-0.062301	0.07317	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.34275	1.37;1.37	5.66	0.124	0.14714	Chloramphenicol acetyltransferase-like domain (1);	0.712173	0.14328	N	0.326549	T	0.05227	0.0139	N	0.14661	0.345	0.19945	N	0.999947	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.40534	-0.9558	10	0.16420	T	0.52	1.0E-4	4.1964	0.10445	0.5271:0.0:0.3072:0.1657	.	64;245	F5H1F9;P11182	.;ODB2_HUMAN	L	64;245;245	ENSP00000359151:P245L;ENSP00000359150:P245L	ENSP00000359150:P245L	P	-	2	0	DBT	100454165	0.017000	0.18338	0.003000	0.11579	0.011000	0.07611	0.567000	0.23608	0.358000	0.24211	-0.150000	0.13652	CCG		0.388	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		5	642	0	0	0	1	0	5	642					A	100681577	G	A	100681577	3	1	87	1	0	0	0	0	1	0	0	0	4269	1116	39	1	738	1	DBT	1	100681577	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	108342	100681577	148569044	11	33032											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|RP4-735C1.4_ENST00000431955.1_RNA	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																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	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	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	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					EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		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)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		8	748						8	748	---	---	---	---	T	110300580	-	T	110300579	7	5	87	1	0	1	1	0	0	0	0	0	5215	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	9619002	110300579	138950042	12	33033											
CSF1	1435	broad.mit.edu	37	chr1	110458293	110458293	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgtgccaaattacatTtgagtttgtagaccaggaac	9	9	0	2	rs375736026		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110458293T>C	ENST00000329608.6	+	3	591	c.200T>C	c.(199-201)tTt>tCt	p.F67S	CSF1_ENST00000344188.5_Missense_Mutation_p.F67S|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	67					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAATTACATTTGAGTTTGTA	0.502																																						ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(199-201)tTt>tCt		colony stimulating factor 1 (macrophage)		T	SER/PHE,SER/PHE,SER/PHE,SER/PHE	1,4405	2.1+/-5.4	0,1,2202	180	157	164		200,200,200,200	3	0.1	1		164	0,8600		0,0,4300	no	missense,missense,missense,missense	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	155,155,155,155	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	67/555,67/439,67/257,67/555	110458293	1,13005	2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110458293T>C	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.200T>C	1.37:g.110458293T>C	ENSP00000327513:p.Phe67Ser					CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S	p.F67S	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	591	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	67					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.200T>C	CCDS816.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589665	0.28357	2.27E-4	0.0	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.46	3.04	0.35103	Four-helical cytokine-like, core (1);	0.227455	0.37304	N	0.002156	T	0.15955	0.0384	M	0.66939	2.045	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.992	D;P;P	0.64042	0.921;0.886;0.634	T	0.05321	-1.0892	10	0.87932	D	0	.	8.5803	0.33623	0.2814:0.0:0.0:0.7186	.	67;67;67	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	S	74;26;67;67;67;26;67;67;67	ENSP00000434527:F74S;ENSP00000431547:F26S;ENSP00000349854:F67S;ENSP00000342718:F67S;ENSP00000327513:F67S;ENSP00000433837:F26S;ENSP00000358817:F67S;ENSP00000407317:F67S;ENSP00000358816:F67S	ENSP00000327513:F67S	F	+	2	0	CSF1	110259816	1.000000	0.71417	0.068000	0.19968	0.003000	0.03518	1.209000	0.32357	0.400000	0.25396	0.459000	0.35465	TTT		0.502	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		12	415	0	0	0	1	0	12	415					C	110458293	T	C	110458293	3	2	87	1	0	0	0	0	1	0	0	0	3942	1841	64	4	210	4	CSF1	1	110458293	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	157714	110458293	138792328	13	33034											
PSMD4	5710	broad.mit.edu	37	chr1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcaagagtttggccGcactgggcttcctgacctaa	11	13	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(814-816)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4																																				SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151238835G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His					PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	p.R272H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	895	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		272					D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.815G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC		0.547	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		5	522	0	0	0	1	0	5	522					A	151238835	G	A	151238835	3	1	87	1	0	0	0	0	1	0	0	0	12747	1087	38	1	845	1	PSMD4	1	151238835	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	40780542	151238835	98011786	14	33035											
NUP210L	91181	broad.mit.edu	37	chr1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaagagatttagctgCgatatgtgtactggaacaat	11	6	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622					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)			GATTTAGCTGCGATATGTGTA	0.443																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1864-1866)Gca>Aca		nucleoporin 210kDa-like							187	175	178					1																	154072575		1937	4152	6089	SO:0001583	missense	91181					integral to membrane		g.chr1:154072575C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1864G>A	1.37:g.154072575C>T	ENSP00000357547:p.Ala622Thr					NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	1935	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		622					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1864G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA		0.443	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		21	550	0	0	0	1	0	21	550					T	154072575	C	T	154072575	3	4	87	1	0	0	0	0	1	0	0	0	10803	768	27	1	3910	1	NUP210L	1	154072575	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	2833740	154072575	95178046	15	33036											
F5	2153	broad.mit.edu	37	chr1	169510281	169510281	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcatctgaccgagggctggGgaaaggtttgtttgactgag	17	6	1	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:169510281G>A	ENST00000367797.3	-	13	4248	c.4047C>T	c.(4045-4047)tcC>tcT	p.S1349S	F5_ENST00000367796.3_Silent_p.S1354S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1349	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S1349S(1)		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)	CGAGGGCTGGGGAAAGGTTTG	0.517																																						ENST00000367796.3																			1	Substitution - coding silent(1)	p.S1349S(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4060-4062)tcC>tcT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						196	218	211					1																	169510281		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510281G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4047C>T	1.37:g.169510281G>A						F5_ENST00000367797.3_Silent_p.S1349S	p.S1354S			P12259	FA5_HUMAN			13	4263	-	all_hematologic(923;0.208)		1349			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.4062C>T	CCDS1281.1																																																																																				0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		7	1246	0	0	0	1	0	7	1246					A	169510281	G	A	169510281	2	1	87	1	0	0	0	0	0	0	0	1	5366	1219	43	2		2	F5	1	169510281	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	15437706	169510281	79740340	16	33037											
PIGR	5284	broad.mit.edu	37	chr1	207105858	207105858	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccacggctcccactgccaGcaccaggcccaggggcacca	11	19	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:207105858G>A	ENST00000356495.4	-	8	2134	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	651					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						CCCACTGCCAGCACCAGGCCC	0.637																																						ENST00000356495.4																			0				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						c.(1951-1953)Ctg>Ttg		polymeric immunoglobulin receptor							53	55	55					1																	207105858		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207105858G>A		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.1951C>T	1.37:g.207105858G>A							p.L651L	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			8	2134	-			651					Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.1951C>T	CCDS1474.1																																																																																				0.637	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		5	398	0	0	0	1	0	5	398					A	207105858	G	A	207105858	2	1	87	1	0	0	0	0	0	0	0	1	11939	962	34	2		2	PIGR	1	207105858	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	37595577	207105858	42144763	17	33038											
SNAP47	116841	broad.mit.edu	37	chr1	227947156	227947156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcaagaacctcttcccccGcagagaagagctgctcagtc	10	15	2	3	rs183802543		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:227947156G>A	ENST00000366759.4	+	3	1507	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T|SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	365					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.A365T(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCTTCCCCCGCAGAGAAGAG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20427	0.0		0.001	False		,,,				2504	0.0					ENST00000366759.4																			1	Substitution - Missense(1)	p.A365T(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1093-1095)Gca>Aca		synaptosomal-associated protein, 47kDa		G	THR/ALA	0,4406		0,0,2203	115	118	117		1093	1.1	0	1		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAP47	NM_053052.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	365/465	227947156	1,13005	2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227947156G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1093G>A	1.37:g.227947156G>A	ENSP00000355721:p.Ala365Thr					SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T|SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T	p.A365T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			3	1507	+			365					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.1093G>A	CCDS1562.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.504|5.504	0.277926|0.277926	0.10403|0.10403	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143740|ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781|ENST00000418653;ENST00000426344	T;T;T|.	0.45668|.	0.89;2.2;2.18|.	5.04|5.04	1.08|1.08	0.20341|0.20341	.|.	0.734758|.	0.13883|.	N|.	0.356219|.	T|T	0.45438|0.45438	0.1342|0.1342	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.33379|.	0.001;0.196;0.41;0.41;0.196|.	B;B;B;B;B|.	0.25140|.	0.005;0.008;0.058;0.049;0.011|.	T|T	0.35724|0.35724	-0.9777|-0.9777	10|5	0.14656|.	T|.	0.56|.	-15.4879|-15.4879	7.4981|7.4981	0.27500|0.27500	0.445:0.0:0.555:0.0|0.445:0.0:0.555:0.0	.|.	123;365;177;365;123|.	Q5SQN1-3;Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4|.	.;SNP47_HUMAN;.;.;.|.	T|H	123;365;365|177;356	ENSP00000355722:A123T;ENSP00000355721:A365T;ENSP00000314157:A365T|.	ENSP00000314157:A365T|.	A|R	+|+	1|2	0|0	SNAP47|SNAP47	226013779|226013779	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	0.327000|0.327000	0.19663|0.19663	0.045000|0.045000	0.15804|0.15804	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.517	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		6	749	0	0	0	1	0	6	749					A	227947156	G	A	227947156	3	1	87	1	0	0	0	0	1	0	0	0	14882	1087	38	1	1103	1	SNAP47	1	227947156	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	20841298	227947156	21303465	18	33039											
CAPN9	10753	broad.mit.edu	37	chr1	230928629	230928629	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgatgctgacaagtccGgcaccatgtctacctatgaa	10	10	1	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:230928629G>A	ENST00000271971.2	+	17	1938	c.1825G>A	c.(1825-1827)Ggc>Agc	p.G609S	RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.G583S|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	609	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)				TGACAAGTCCGGCACCATGTC	0.512																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1747-1749)Ggc>Agc		calpain 9							156	157	156					1																	230928629		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230928629G>A	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.1825G>A	1.37:g.230928629G>A	ENSP00000271971:p.Gly609Ser					RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.G609S|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR	p.G583S	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			16	1829	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	609			Domain IV.|EF-hand 2.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.1747G>A	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649288	0.87958	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.85339	-1.97;-1.97;-1.97	5.49	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95185	0.8303	10	0.66056	D	0.02	.	13.7944	0.63162	0.0746:0.0:0.9254:0.0	.	546;583;609	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	S	609;583;546	ENSP00000271971:G609S;ENSP00000346538:G583S;ENSP00000355626:G546S	ENSP00000271971:G609S	G	+	1	0	CAPN9	228995252	1.000000	0.71417	0.868000	0.34077	0.964000	0.63967	7.352000	0.79404	1.314000	0.45095	0.655000	0.94253	GGC		0.512	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		28	728	0	0	0	1	0	28	728					A	230928629	G	A	230928629	3	1	87	1	0	0	0	0	1	0	0	0	2639	1116	39	1	1891	1	CAPN9	1	230928629	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	2981473	230928629	18321992	19	33040											
ZP4	57829	broad.mit.edu	37	chr1	238050775	238050775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcattcctaagggccaagcGcacagaatccaagagcagtg	11	11	1	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:238050775G>A	ENST00000366570.4	-	5	798	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	214	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGCCAAGCGCACAGAATCC	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4																			0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(640-642)Cgc>Tgc		zona pellucida glycoprotein 4							160	146	151					1																	238050775		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050775G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.640C>T	1.37:g.238050775G>A	ENSP00000355529:p.Arg214Cys					RP11-193H5.1_ENST00000450451.1_RNA	p.R214C	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	798	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	214			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.640C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827119	0.32329	.	.	ENSG00000116996	ENST00000366570	D	0.83163	-1.69	4.86	1.91	0.25777	Zona pellucida sperm-binding protein (3);	0.389295	0.28031	N	0.016872	D	0.88194	0.6371	M	0.79805	2.47	0.09310	N	1	D	0.71674	0.998	P	0.61722	0.893	T	0.80106	-0.1521	10	0.87932	D	0	-5.2811	8.9227	0.35621	0.2535:0.0:0.7465:0.0	.	214	Q12836	ZP4_HUMAN	C	214	ENSP00000355529:R214C	ENSP00000355529:R214C	R	-	1	0	ZP4	236117398	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	0.601000	0.24119	0.196000	0.20367	0.655000	0.94253	CGC		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			6	408	0	0	0	1	0	6	408					A	238050775	G	A	238050775	3	1	87	1	0	0	0	0	1	0	0	0	18271	1087	38	1	1014	1	ZP4	1	238050775	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	7122146	238050775	11199846	20	33041											
OR2M5	127059	broad.mit.edu	37	chr1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGtcgcaaagcttttactacct	12	9	1	1	rs147580819		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		21867	0.0		0.001	False		,,,				2504	0.0					ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(700-702)cGt>cAt		olfactory receptor, family 2, subfamily M, member 5		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	259	244	249		701	1.3	0	1	dbSNP_134	249	0,8600		0,0,4300	no	missense	OR2M5	NM_001004690.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	234/313	248309150	1,13005	2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309150G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.701G>A	1.37:g.248309150G>A	ENSP00000355432:p.Arg234His						p.R234H	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	701	+	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)		234						Missense_Mutation	SNP	ENST00000366476.1	37	c.701G>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.703	1.154991	0.21371	2.27E-4	0.0	ENSG00000162727	ENST00000366476	T	0.00333	8.07	3.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.008340	0.08001	N	0.988776	T	0.00412	0.0013	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.42189	-0.9466	10	0.72032	D	0.01	.	8.818	0.35007	0.1975:0.0:0.8025:0.0	.	234	A3KFT3	OR2M5_HUMAN	H	234	ENSP00000355432:R234H	ENSP00000355432:R234H	R	+	2	0	OR2M5	246375773	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	0.556000	0.23438	0.062000	0.16340	-0.326000	0.08463	CGT		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		27	1002	0	0	0	1	0	27	1002					A	248309150	G	A	248309150	3	1	87	1	0	0	0	0	1	0	0	0	11055	1145	40	1	703	1	OR2M5	1	248309150	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	10258375	248309150	941471	21	33042											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	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)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	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	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	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					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	383						8	383	---	---	---	---	-	26693556	CTT	-	26693554	7	5	87	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-IB-A5ST-01A-11D-A32N-08		26693554	216505819	22	33043											
C2orf16	84226	broad.mit.edu	37	chr2	27804824	27804824	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agccatcacagtccctctgaGagaagccatcacagtccctc	7	16	3	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:27804824G>C	ENST00000408964.2	+	1	5436	c.5385G>C	c.(5383-5385)gaG>gaC	p.E1795D	ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1795	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCTCTGAGAGAAGCCATC	0.547																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5383-5385)gaG>gaC		chromosome 2 open reading frame 16							154	157	156					2																	27804824		1922	4129	6051	SO:0001583	missense	84226							g.chr2:27804824G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5385G>C	2.37:g.27804824G>C	ENSP00000386190:p.Glu1795Asp						p.E1795D	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	5436	+	Acute lymphoblastic leukemia(172;0.155)		1795			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5385G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.281825	0.23392	.	.	ENSG00000221843	ENST00000408964	T	0.05786	3.39	3.95	1.17	0.20885	.	.	.	.	.	T	0.07369	0.0186	L	0.53249	1.67	0.09310	N	1	P	0.38300	0.626	B	0.36504	0.226	T	0.24297	-1.0164	9	0.52906	T	0.07	.	7.9068	0.29767	0.2806:0.0:0.7194:0.0	.	1795	Q68DN1	CB016_HUMAN	D	1795	ENSP00000386190:E1795D	ENSP00000386190:E1795D	E	+	3	2	C2orf16	27658328	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.437000	0.21543	0.251000	0.21505	0.407000	0.27541	GAG		0.547	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		27	831	0	0	0	1	0	27	831					C	27804824	G	C	27804824	3	2	87	1	0	0	0	0	1	0	0	0	2164	933	33	5	5387	5	C2orf16	2	27804824	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1111270	27804824	215394549	23	33044											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		8	439						8	439	---	---	---	---	-	39095413	CCA	-	39095411	7	5	87	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-IB-A5ST-01A-11D-A32N-08	11290587	39095411	204103962	24	33045											
TTN	7273	broad.mit.edu	37	chr2	179582534	179582534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaaggtggaagtttgCgcgctgtaaagaagttacag	13	5	0	2	rs376290076		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:179582534C>T	ENST00000591111.1	-	85	24340	c.24116G>A	c.(24115-24117)cGc>cAc	p.R8039H	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7112H|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R8356H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12230					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)			TGGAAGTTTGCGCGCTGTAAA	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25066-25068)cGc>cAc		titin		C	HIS/ARG,,,	0,3702		0,0,1851	34	33	33		21335,,,	5.9	1	2		33	2,8184		0,2,4091	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,2,5942	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging,,,	7112/33424,,,	179582534	2,11886	1851	4093	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582534C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24116G>A	2.37:g.179582534C>T	ENSP00000465570:p.Arg8039His					TTN_ENST00000591111.1_Missense_Mutation_p.R8039H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7112H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron	p.R8356H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25291	-			8039			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25067G>A		.	.	.	.	.	.	.	.	.	.	C	14.29	2.490214	0.44249	0.0	2.44E-4	ENSG00000155657	ENST00000342992	T	0.63744	-0.06	5.87	5.87	0.94306	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80529	0.4640	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.80745	-0.1245	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	8039	Q8WZ42	TITIN_HUMAN	H	7112	ENSP00000343764:R7112H	ENSP00000343764:R7112H	R	-	2	0	TTN	179290779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.777000	0.47717	2.941000	0.99782	0.655000	0.94253	CGC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	156	0	0	0	1	0	4	156					T	179582534	C	T	179582534	3	4	87	1	0	0	0	0	1	0	0	0	16789	768	27	1	79566	1	TTN	2	179582534	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	140487123	179582534	63616839	25	33046											
STK11IP	114790	broad.mit.edu	37	chr2	220479983	220479983	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgcgtgtcagggagCagcagccactcagcagcctg	14	13	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:220479983C>T	ENST00000456909.1	+	24	3127	c.3037C>T	c.(3037-3039)Cag>Tag	p.Q1013*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.Q1024*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1024					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)		TGTCAGGGAGCAGCAGCCACT	0.647																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(3037-3039)Cag>Tag		serine/threonine kinase 11 interacting protein							16	19	18					2																	220479983		2089	4208	6297	SO:0001587	stop_gained	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220479983C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"LKB1 interacting protein"	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3037C>T	2.37:g.220479983C>T	ENSP00000389383:p.Gln1013*					STK11IP_ENST00000295641.10_Nonsense_Mutation_p.Q1024*	p.Q1013*			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	3127	+		Renal(207;0.0183)	1024					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37	c.3037C>T		.	.	.	.	.	.	.	.	.	.	C	16.41	3.116420	0.56505	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	.	.	.	4.53	4.53	0.55603	.	0.160319	0.38959	N	0.001506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-14.4814	12.6615	0.56815	0.0:1.0:0.0:0.0	.	.	.	.	X	1013;1024	.	ENSP00000295641:Q1024X	Q	+	1	0	STK11IP	220188227	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	1.799000	0.38824	2.363000	0.80096	0.561000	0.74099	CAG		0.647	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		4	69	0	0	0	1	0	4	69					T	220479983	C	T	220479983	4	4	87	1	0	0	0	0	0	1	0	0	15340	711	25	2	3164	2	STK11IP	2	220479983	Nonsense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	40897449	220479983	22719390	26	33047											
GIGYF2	26058	broad.mit.edu	37	chr2	233676006	233676008	+	In_Frame_Del	DEL	CAG	CAG	-													agaaagcagcactgtcttccCagcagcagcagcagttggca							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:233676006_233676008delCAG	ENST00000409547.1	+	19	2262_2264	c.1951_1953delCAG	c.(1951-1953)cagdel	p.Q655del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q676del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q677del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q486del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q677del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q655del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q649del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	655	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGTCTTCCCAGCAGCAGCAGC	0.424																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2017-2019)del		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233676006_233676008delCAG	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.1951_1953delCAG	2.37:g.233676015_233676017delCAG	ENSP00000386537:p.Gln655del					GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q677del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q676del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q655del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q649del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.Q486del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q655del	p.Q677del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	18	2214_2216	+		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)	655			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2017_2019delCAG	CCDS33401.1																																																																																				0.424	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		7	404						7	404	---	---	---	---	-	233676008	CAG	-	233676006	7	5	87	1	0	1	0	1	0	0	0	0	6407	595	21	0	2079	0	GIGYF2	2	233676006	In_Frame_Del	DEL	CAG	TCGA-IB-A5ST-01A-11D-A32N-08	13196023	233676006	9523367	27	33048											
FYCO1	79443	broad.mit.edu	37	chr3	46000100	46000100	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagtagtaacagaagatgCggccacatatcctgggaaca	11	9	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:46000100C>T	ENST00000296137.2	-	13	3804	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H	FYCO1_ENST00000535325.1_Missense_Mutation_p.R1200H|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1200					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACAGAAGATGCGGCCACATAT	0.532																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3598-3600)cGc>cAc		FYVE and coiled-coil domain containing 1							65	65	65					3																	46000100		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46000100C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3599G>A	3.37:g.46000100C>T	ENSP00000296137:p.Arg1200His					FYCO1_ENST00000535325.1_Missense_Mutation_p.R1200H|FYCO1_ENST00000438446.1_5'UTR	p.R1200H	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	13	3804	-			1200					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3599G>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437129	0.62955	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.73258	-0.73;-0.73	5.73	3.95	0.45737	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	T	0.67487	0.2898	L	0.60067	1.865	0.49483	D	0.999799	P;P	0.48911	0.798;0.917	B;P	0.45037	0.229;0.467	T	0.65134	-0.6242	9	.	.	.	-9.3005	10.0647	0.42297	0.0:0.8454:0.0:0.1546	.	1200;1200	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	H	1200	ENSP00000296137:R1200H;ENSP00000441178:R1200H	.	R	-	2	0	FYCO1	45975104	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	2.845000	0.48254	0.782000	0.33613	0.650000	0.86243	CGC		0.532	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	381	0	0	0	1	0	5	381					T	46000100	C	T	46000100	3	4	87	1	0	0	0	0	1	0	0	0	6152	768	27	1	861	1	FYCO1	3	46000100	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		46000100	152022330	28	33049											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q	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																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		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					QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	349						7	349	---	---	---	---	-	49094316	TGC	-	49094314	7	5	87	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-IB-A5ST-01A-11D-A32N-08	3094214	49094314	148928116	29	33050											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A													agggcgcctctgagccgtcgGggttccggcagaagttctcc					rs200900272		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.P349L|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	159	0	0	0	1	0	4	159					A	49723596	G	A	49723596	1	1	87	0	1	0	0	0	0	0	0	0	9931	1232	43	2		2	MST1	3	49723596	IGR	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	629282	49723596	148298834	30	33051	214	2									
MST1	327	broad.mit.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A													ctctgagccgtcggggttccGgcagaagttctcccgaaggt					rs199969873	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.R347W|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	164	0	0	0	1	0	4	164					A	49723603	G	A	49723603	1	1	87	0	1	0	0	0	0	0	0	0	9931	1115	39	1		1	MST1	3	49723603	IGR	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	7	49723603	148298827	31	33052	214	2									
RBM15B	29890	broad.mit.edu	37	chr3	51430415	51430415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggacgccgacctggtgCgggacaggacgcccccacac	13	17	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:51430415C>T	ENST00000323686.4	+	1	1685	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	529					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGACCTGGTGCGGGACAGGAC	0.612																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1585-1587)Cgg>Tgg		RNA binding motif protein 15B							44	49	48					3																	51430415		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430415C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1585C>T	3.37:g.51430415C>T	ENSP00000313890:p.Arg529Trp						p.R529W	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1685	+			529					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1585C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846050	0.51164	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.18174	2.23	5.55	4.67	0.58626	.	.	.	.	.	T	0.37348	0.1000	L	0.57536	1.79	0.50313	D	0.999868	D	0.89917	1.0	D	0.77004	0.989	T	0.14924	-1.0455	9	0.87932	D	0	-16.0835	13.3329	0.60500	0.4055:0.5945:0.0:0.0	.	529	Q8NDT2	RB15B_HUMAN	W	529;202	ENSP00000313890:R529W	ENSP00000313890:R529W	R	+	1	2	RBM15B	51405455	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.873000	0.28052	1.329000	0.45376	0.655000	0.94253	CGG		0.612	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		5	457	0	0	0	1	0	5	457					T	51430415	C	T	51430415	3	4	87	1	0	0	0	0	1	0	0	0	13167	759	27	1	1587	1	RBM15B	3	51430415	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	1706812	51430415	146592015	32	33053											
SLC34A2	10568	broad.mit.edu	37	chr4	25674740	25674740	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgaatttccacctcccGgatcttgctgtgggcaccat	9	12	1	1	rs546457472		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:25674740G>A	ENST00000382051.3	+	10	1130	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	SLC34A2_ENST00000504570.1_Silent_p.P359P|SLC34A2_ENST00000503434.1_Silent_p.P359P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	360					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCACCTCCCGGATCTTGCTG	0.512			T	ROS1	NSCLC								G|||	1	0.000199681	0.0008	0.0	5008	,	,		20622	0.0		0.0	False		,,,				2504	0.0					ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1078-1080)ccG>ccA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							204	181	189					4																	25674740		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25674740G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1080G>A	4.37:g.25674740G>A						SLC34A2_ENST00000504570.1_Silent_p.P359P|SLC34A2_ENST00000503434.1_Silent_p.P359P	p.P360P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			10	1130	+		Breast(46;0.0503)	360					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1080G>A	CCDS3435.1																																																																																				0.512	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		18	561	0	0	0	1	0	18	561					A	25674740	G	A	25674740	2	1	87	1	0	0	0	0	0	0	0	1	14618	1103	39	1		1	SLC34A2	4	25674740	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		25674740	165479536	33	33054											
H2AFZ	3015	broad.mit.edu	37	chr4	100870830	100870830	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactactgacctgcaagccgGctctctgcgagcgggaaacc	11	14	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:100870830G>A	ENST00000296417.5	-	2	288	c.71C>T	c.(70-72)gCc>gTc	p.A24V	H2AFZ_ENST00000529158.1_5'UTR|RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	24					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTGCAAGCCGGCTCTCTGCGA	0.567																																						ENST00000296417.5																			0				breast(1)|endometrium(3)|lung(1)	5						c.(70-72)gCc>gTc		H2A histone family, member Z							80	89	86					4																	100870830		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870830G>A	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.71C>T	4.37:g.100870830G>A	ENSP00000296417:p.Ala24Val					H2AFZ_ENST00000529158.1_5'UTR	p.A24V	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	288	-			24					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.71C>T	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224399	0.95139	.	.	ENSG00000164032	ENST00000296417	D	0.87256	-2.23	3.33	3.33	0.38152	Histone-fold (2);Histone core (1);Histone H2A (3);	0.103484	0.64402	N	0.000003	D	0.96056	0.8715	H	0.99435	4.565	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	D	0.97952	1.0332	10	0.87932	D	0	-4.0732	14.8277	0.70125	0.0:0.0:1.0:0.0	.	24	P0C0S5	H2AZ_HUMAN	V	24	ENSP00000296417:A24V	ENSP00000296417:A24V	A	-	2	0	H2AFZ	101089853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.355000	0.90083	1.697000	0.51169	0.455000	0.32223	GCC		0.567	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	NM_002106		6	741	0	0	0	1	0	6	741					A	100870830	G	A	100870830	3	1	87	1	0	0	0	0	1	0	0	0	6961	1203	42	2	331	2	H2AFZ	4	100870830	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	75196090	100870830	90283446	34	33055											
PHF17	79960	broad.mit.edu	37	chr4	129783052	129783052	+	Frame_Shift_Del	DEL	C	C	-													gaatggggcccctgagtgttCcccccggaatccgctggagc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:129783052delC	ENST00000226319.6	+	9	1455	c.1175delC	c.(1174-1176)tccfs	p.S392fs	PHF17_ENST00000511647.1_Frame_Shift_Del_p.S392fs|PHF17_ENST00000512960.1_Frame_Shift_Del_p.S392fs|PHF17_ENST00000413543.2_Frame_Shift_Del_p.S392fs|PHF17_ENST00000452328.2_Frame_Shift_Del_p.S380fs	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						CCTGAGTGTTCCCCCCGGAAT	0.597																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1174-1176)tcfs									72	84	80					4																	129783052		2203	4300	6503	SO:0001589	frameshift_variant	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783052delC																												ENST00000226319.6:c.1175delC	4.37:g.129783052delC	ENSP00000226319:p.Ser392fs					PHF17_ENST00000413543.2_Frame_Shift_Del_p.S392fs|PHF17_ENST00000511647.1_Frame_Shift_Del_p.S392fs|PHF17_ENST00000452328.2_Frame_Shift_Del_p.S380fs|PHF17_ENST00000512960.1_Frame_Shift_Del_p.S392fs	p.S392fs	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1455	+			392						Frame_Shift_Del	DEL	ENST00000226319.6	37	c.1175delC	CCDS34062.1																																																																																				0.597	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			8	719						8	719	---	---	---	---	-	129783052	C	-	129783052	7	5	87	1	0	1	0	1	0	0	0	0	11870	855	30	0	1205	0	PHF17	4	129783052	Frame_Shift_Del	DEL	C	TCGA-IB-A5ST-01A-11D-A32N-08	28912222	129783052	61371224	35	33056											
TAS2R1	50834	broad.mit.edu	37	chr5	9629467	9629467	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggacaggatagacagcaaCgcgctgatgggtgcacccct	13	11	0	2	rs140696180	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGACAGCAACGCGCTGATGG	0.498																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(676-678)gcG>gcA		taste receptor, type 2, member 1		C		0,4406		0,0,2203	67	75	72		678	-11.1	0	5	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R1	NM_019599.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		226/300	9629467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629467C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.678G>A	5.37:g.9629467C>T						CTD-2001E22.1_ENST00000504182.2_RNA	p.A226A	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	996	-			226					Q646G8	Silent	SNP	ENST00000382492.2	37	c.678G>A	CCDS3876.1																																																																																				0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			8	299	0	0	0	1	0	8	299					T	9629467	C	T	9629467	2	4	87	1	0	0	0	0	0	0	0	1	15617	523	19	1		1	TAS2R1	5	9629467	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		9629467	171285793	36	33057											
ANKRD55	79722	broad.mit.edu	37	chr5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggccaggcataaacttgtgCggccataagcatcctgcatg	11	11	0	0	rs201977310		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	95										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(283-285)cGc>cAc		ankyrin repeat domain 55							161	136	144					5																	55472007		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55472007C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.284G>A	5.37:g.55472007C>T	ENSP00000342295:p.Arg95His					ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H	p.R95H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			4	435	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	94					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.284G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426908	0.96131	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.66460	-0.21;-0.21;-0.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	L	0.47190	1.495	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.76607	-0.2897	10	0.41790	T	0.15	.	18.5715	0.91137	0.0:1.0:0.0:0.0	.	95	B3KVT8	.	H	95;95;95;66;95	ENSP00000342295:R95H;ENSP00000424230:R95H;ENSP00000423507:R66H	ENSP00000342295:R95H	R	-	2	0	ANKRD55	55507764	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.485000	0.73625	2.462000	0.83206	0.563000	0.77884	CGC		0.542	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		5	576	0	0	0	1	0	5	576					T	55472007	C	T	55472007	3	4	87	1	0	0	0	0	1	0	0	0	681	768	27	1	1596	1	ANKRD55	5	55472007	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	45842540	55472007	125443253	37	33058											
OTP	23440	broad.mit.edu	37	chr5	76932865	76932865	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgtccgggtctttggcGctcaccgccagcgaggccgg	15	14	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:76932865G>A	ENST00000306422.3	-	2	1366	c.228C>T	c.(226-228)agC>agT	p.S76S	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	76					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGTCTTTGGCGCTCACCGCCA	0.711																																						ENST00000306422.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(226-228)agC>agT		orthopedia homeobox							29	35	33					5																	76932865		2201	4296	6497	SO:0001819	synonymous_variant	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932865G>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.228C>T	5.37:g.76932865G>A							p.S76S	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	1366	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	76						Silent	SNP	ENST00000306422.3	37	c.228C>T	CCDS4039.1																																																																																				0.711	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			8	260	0	0	0	1	0	8	260					A	76932865	G	A	76932865	2	1	87	1	0	0	0	0	0	0	0	1	11352	1078	38	1		1	OTP	5	76932865	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	21460858	76932865	103982395	38	33059											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855633	79855633	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggcattgttctctaacaggTatttcaccattttggcttta	7	9	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:79855633T>C	ENST00000338682.3	-	5	878	c.206A>G	c.(205-207)tAc>tGc	p.Y69C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	69						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTCTAACAGGTATTTCACCAT	0.448																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(205-207)tAc>tGc		ankyrin repeat domain 34B							160	161	160					5																	79855633		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855633T>C		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.206A>G	5.37:g.79855633T>C	ENSP00000339802:p.Tyr69Cys						p.Y69C	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	878	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	69					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.206A>G	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063229	0.76187	.	.	ENSG00000189127	ENST00000338682	T	0.65916	-0.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.081459	0.50627	U	0.000101	T	0.72382	0.3453	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74948	-0.3490	10	0.72032	D	0.01	-14.1729	14.9417	0.70997	0.0:0.0:0.0:1.0	.	69	A5PLL1	AN34B_HUMAN	C	69	ENSP00000339802:Y69C	ENSP00000339802:Y69C	Y	-	2	0	ANKRD34B	79891389	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.900000	0.87376	2.201000	0.70794	0.459000	0.35465	TAC		0.448	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		20	766	0	0	0	1	0	20	766					C	79855633	T	C	79855633	3	2	87	1	0	0	0	0	1	0	0	0	663	1638	57	4	1342	4	ANKRD34B	5	79855633	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	2922768	79855633	101059627	39	33060											
SLCO4C1	353189	broad.mit.edu	37	chr5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattcccaaggctagggaccGttgtctgtgattaacacacc	9	11	1	1	rs374536178		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1831-1833)Cgg>Tgg		solute carrier organic anion transporter family, member 4C1		G	TRP/ARG	0,4406		0,0,2203	131	140	137		1831	6	0.3	5		137	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4C1	NM_180991.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	611/725	101576467	1,13001	2203	4298	6501	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576467G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>T	5.37:g.101576467G>A	ENSP00000309741:p.Arg611Trp						p.R611W	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2117	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	611						Missense_Mutation	SNP	ENST00000310954.6	37	c.1831C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG		0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		11	630	0	0	0	1	0	11	630					A	101576467	G	A	101576467	3	1	87	1	0	0	0	0	1	0	0	0	14780	1144	40	1	355	1	SLCO4C1	5	101576467	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	21720834	101576467	79338793	40	33061											
AQPEP	206338	broad.mit.edu	37	chr5	115351411	115351411	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcatctgaagttggccGgtatgtcgcaaaagacttct	11	9	3	2	rs186045980		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:115351411G>A	ENST00000357872.4	+	18	2829	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		902						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GAAGTTGGCCGGTATGTCGCA	0.408																																						ENST00000357872.4																			0											c.(2704-2706)cGg>cAg				G	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	78	77	78		2705	0.7	0	5		78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	AQPEP	NM_173800.4	43	0,4,6498	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging	902/991	115351411	4,13000	2202	4300	6502	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115351411G>A																												ENST00000357872.4:c.2705G>A	5.37:g.115351411G>A	ENSP00000350541:p.Arg902Gln					AQPEP_ENST00000515454.1_3'UTR	p.R902Q	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			18	2829	+			902					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2705G>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896123	0.33442	2.27E-4	3.49E-4	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.07908	3.15	5.6	0.743	0.18347	.	0.296928	0.24198	N	0.040657	T	0.05318	0.0141	N	0.17594	0.5	0.09310	N	1	D	0.61697	0.99	P	0.51550	0.673	T	0.19192	-1.0313	10	0.05833	T	0.94	.	4.4203	0.11477	0.3159:0.0:0.5388:0.1453	.	902	Q6Q4G3	AMPQ_HUMAN	Q	902;891	ENSP00000350541:R902Q	ENSP00000350541:R902Q	R	+	2	0	AC010282.1	115379310	0.005000	0.15991	0.032000	0.17829	0.747000	0.42532	0.827000	0.27421	-0.148000	0.11234	-0.471000	0.05019	CGG		0.408	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			4	215	0	0	0	1	0	4	215					A	115351411	G	A	115351411	3	1	87	1	0	0	0	0	1	0	0	0	834	1116	39	1	2775	1	AQPEP	5	115351411	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	13774944	115351411	65563849	41	33062											
PHF15	23338	broad.mit.edu	37	chr5	133895608	133895608	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctgattggccagggGgcagccgctatgacttggac	14	13	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:133895608G>T	ENST00000402835.1	+	5	655	c.400G>T	c.(400-402)Ggc>Tgc	p.G134C	PHF15_ENST00000282605.4_Missense_Mutation_p.G134C|PHF15_ENST00000361895.2_Missense_Mutation_p.G134C|PHF15_ENST00000395003.1_Missense_Mutation_p.G134C																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCCAGGGGGCAGCCGCTA	0.577																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(400-402)Ggc>Tgc									60	53	56					5																	133895608		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133895608G>T																												ENST00000402835.1:c.400G>T	5.37:g.133895608G>T	ENSP00000384671:p.Gly134Cys					PHF15_ENST00000282605.4_Missense_Mutation_p.G134C|PHF15_ENST00000402835.1_Missense_Mutation_p.G134C|PHF15_ENST00000361895.2_Missense_Mutation_p.G134C	p.G134C	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	579	+			134						Missense_Mutation	SNP	ENST00000402835.1	37	c.400G>T		.	.	.	.	.	.	.	.	.	.	G	16.71	3.199404	0.58126	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	4.9	4.9	0.64082	Enhancer of polycomb-like, N-terminal (1);	0.633849	0.16279	N	0.221443	T	0.39809	0.1092	N	0.08118	0	0.31045	N	0.715894	P;P;P;P;P	0.44521	0.491;0.837;0.491;0.804;0.711	P;P;P;B;P	0.56343	0.704;0.722;0.704;0.195;0.796	T	0.35649	-0.9780	10	0.45353	T	0.12	.	6.4953	0.22138	0.0974:0.0:0.7182:0.1844	.	134;134;134;134;150	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	C	134;134;150;134;134;134;134;134;134	ENSP00000422991:G134C;ENSP00000282605:G134C;ENSP00000354425:G134C;ENSP00000384671:G134C;ENSP00000378451:G134C;ENSP00000406189:G134C	ENSP00000282605:G134C	G	+	1	0	PHF15	133923507	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	1.819000	0.39022	2.659000	0.90383	0.561000	0.74099	GGC		0.577	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			5	228	1	0	1	1	1	5	228					T	133895608	G	T	133895608	3	4	87	1	0	0	0	0	1	0	0	0	11868	1232	43	3	414	3	PHF15	5	133895608	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	18544197	133895608	47019652	42	33063											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	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.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		6	597	1	0	3.86212e-05	1	4.0574e-05	6	597					T	140553994	G	T	140553994	2	4	87	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	6658386	140553994	40361266	43	33064											
DIAPH1	1729	broad.mit.edu	37	chr5	140908384	140908384	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaagctctcactcttaCgtaactcctcacatgcagca	6	13	3	0	rs373654027		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140908384C>T	ENST00000398557.4	-	22	3043	c.2903G>A	c.(2902-2904)cGt>cAt	p.R968H	DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R969H|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	968	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCTTACGTAACTCCTC	0.448																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2905-2907)cGt>cAt		diaphanous-related formin 1							90	85	87					5																	140908384		2040	4206	6246	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908384C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2903G>A	5.37:g.140908384C>T	ENSP00000381565:p.Arg968His					DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R968H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H	p.R969H			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	3046	-			968			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2906G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859456	0.32884	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.27	4.4	0.53042	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.224000	0.36815	N	0.002392	T	0.21550	0.0519	M	0.66439	2.03	0.53688	D	0.999978	B;B;B	0.28971	0.229;0.145;0.145	B;B;B	0.18561	0.022;0.022;0.022	T	0.04440	-1.0951	10	0.87932	D	0	.	9.2173	0.37355	0.0:0.8317:0.0:0.1683	.	911;959;968	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	965;911;944;959;960;968;969;956	ENSP00000373706:R965H;ENSP00000429282:R911H;ENSP00000381570:R944H;ENSP00000373709:R959H;ENSP00000381572:R960H;ENSP00000381565:R968H;ENSP00000253811:R969H;ENSP00000428268:R956H	ENSP00000253811:R969H	R	-	2	0	DIAPH1	140888568	0.432000	0.25554	0.794000	0.32065	0.295000	0.27426	1.344000	0.33941	1.209000	0.43321	-0.259000	0.10710	CGT		0.448	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		5	311	0	0	0	1	0	5	311					T	140908384	C	T	140908384	3	4	87	1	0	0	0	0	1	0	0	0	4534	536	19	1	943	1	DIAPH1	5	140908384	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	354390	140908384	40006876	44	33065											
GRK6	2870	broad.mit.edu	37	chr5	176860178	176860178	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagtacctgagcgtggccccTtttgccgactacctcgacag	11	14	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:176860178T>C	ENST00000355472.5	+	6	639	c.471T>C	c.(469-471)ccT>ccC	p.P157P	GRK6_ENST00000528793.1_Silent_p.P157P|GRK6_ENST00000393576.3_Silent_p.P157P|GRK6_ENST00000355958.5_Silent_p.P157P|GRK6_ENST00000507633.1_Silent_p.P157P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	157	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGGCCCCTTTTGCCGACT	0.627																																						ENST00000355472.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(469-471)ccT>ccC		G protein-coupled receptor kinase 6							105	95	98					5																	176860178		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860178T>C		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.471T>C	5.37:g.176860178T>C						GRK6_ENST00000528793.1_Silent_p.P157P|GRK6_ENST00000355958.5_Silent_p.P157P|GRK6_ENST00000393576.3_Silent_p.P157P|GRK6_ENST00000507633.1_Silent_p.P157P	p.P157P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	639	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157			N-terminal.|RGS.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.471T>C	CCDS34303.1																																																																																				0.627	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		5	538	0	0	0	1	0	5	538					C	176860178	T	C	176860178	2	2	87	1	0	0	0	0	0	0	0	1	6823	1596	56	4		4	GRK6	5	176860178	Silent	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	35951794	176860178	4055082	45	33066											
TNXB	7148	broad.mit.edu	37	chr6	32064921	32064921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcggggcctgagaagcctgCccggcacacacacacgccct	12	17	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:32064921C>T	ENST00000479795.1	-	3	849	c.709G>A	c.(709-711)Gca>Aca	p.A237T	TNXB_ENST00000375247.2_Missense_Mutation_p.A237T|TNXB_ENST00000375244.3_Missense_Mutation_p.A237T			P22105	TENX_HUMAN	tenascin XB	237	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						GAGAAGCCTGCCCGGCACACA	0.701																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(709-711)Gca>Aca		tenascin XB							20	24	23					6																	32064921		2145	4231	6376	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32064921C>T	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.709G>A	6.37:g.32064921C>T	ENSP00000418248:p.Ala237Thr					TNXB_ENST00000375247.2_Missense_Mutation_p.A237T|TNXB_ENST00000479795.1_Missense_Mutation_p.A237T	p.A237T			P22105	TENX_HUMAN			3	910	-			237			EGF-like 3.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.709G>A		.	.	.	.	.	.	.	.	.	.	C	0.442	-0.898065	0.02472	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11277	3.88;3.88;2.79	4.22	0.161	0.14977	.	0.689881	0.12572	N	0.457242	T	0.02047	0.0064	L	0.31294	0.92	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.44528	-0.9322	10	0.44086	T	0.13	.	4.2281	0.10590	0.154:0.3014:0.452:0.0926	.	237	P22105-3	.	T	237	ENSP00000364393:A237T;ENSP00000364396:A237T;ENSP00000418248:A237T	ENSP00000364393:A237T	A	-	1	0	TNXB	32172899	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.163000	0.09997	-0.190000	0.10465	0.655000	0.94253	GCA		0.701	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		4	85	0	0	0	1	0	4	85					T	32064921	C	T	32064921	3	4	87	1	0	0	0	0	1	0	0	0	16398	739	26	2	14172	2	TNXB	6	32064921	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		32064921	139050146	46	33067											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	87	0	0	0	1	0	5	87					G	45390482	C	G	45390482	3	3	87	1	0	0	0	0	1	0	0	0	13798	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	13325561	45390482	125724585	47	33068											
LGSN	51557	broad.mit.edu	37	chr6	63990012	63990012	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcatggcaacaaaatatcGaataaaggtttctcctagag	7	8	2	1	rs371133744		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:63990012G>A	ENST00000370657.4	-	4	1477	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	482					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAAAATATCGAATAAAGGTT	0.378																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1444-1446)Cga>Tga		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						74	78	76					6																	63990012		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990012G>A	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.1444C>T	6.37:g.63990012G>A	ENSP00000359691:p.Arg482*					LGSN_ENST00000370658.5_3'UTR	p.R482*			Q5TDP6	LGSN_HUMAN			4	1477	-			482					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.1444C>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373680	0.61624	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.7	3.86	0.44501	.	0.362303	0.32884	N	0.005523	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.5437	14.1084	0.65107	0.0:0.0:0.6109:0.3891	.	.	.	.	X	482	.	ENSP00000359691:R482X	R	-	1	2	LGSN	64047971	1.000000	0.71417	0.856000	0.33681	0.358000	0.29455	4.385000	0.59613	0.703000	0.31848	0.655000	0.94253	CGA		0.378	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		11	371	0	0	0	1	0	11	371					A	63990012	G	A	63990012	4	1	87	1	0	0	0	0	0	1	0	0	8791	1066	37	1	89	1	LGSN	6	63990012	Nonsense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	18599530	63990012	107125055	48	33069											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		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)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	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.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		8	855						8	855	---	---	---	---	T	129959603	-	T	129959602	7	5	87	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	65969590	129959602	41155465	49	33070											
MAP7	9053	broad.mit.edu	37	chr6	136742933	136742933	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgcactttgtagctgtcGggtgctacagaaatgagaca	11	8	1	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:136742933G>A	ENST00000354570.3	-	2	482	c.72C>T	c.(70-72)ccC>ccT	p.P24P	MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Silent_p.P9P|MAP7_ENST00000438100.2_Silent_p.P46P|MAP7_ENST00000454590.1_Silent_p.P46P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	24					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTAGCTGTCGGGTGCTACAG	0.373																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(70-72)ccC>ccT		microtubule-associated protein 7							101	99	100					6																	136742933		2203	4300	6503	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136742933G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.72C>T	6.37:g.136742933G>A						MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Silent_p.P9P|MAP7_ENST00000454590.1_Silent_p.P46P|MAP7_ENST00000438100.2_Silent_p.P46P	p.P24P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	2	482	-	Colorectal(23;0.24)		24					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.72C>T	CCDS5178.1																																																																																				0.373	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		6	384	0	0	0	1	0	6	384					A	136742933	G	A	136742933	2	1	87	1	0	0	0	0	0	0	0	1	9307	1103	39	1		1	MAP7	6	136742933	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	6783331	136742933	34372134	50	33071											
RAET1E	135250	broad.mit.edu	37	chr6	150209805	150209806	+	Splice_Site	INS	-	-	AA													aagcatttactggtgacactINSaaaaaaaaaaaaaaaaagaa					rs10671072|rs3036672		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:150209805_150209806insAA	ENST00000357183.4	-	4	755		c.e4-2		RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Splice_Site	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E						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)		CTGGTGACACTaaaaaaaaaaa	0.371																																						ENST00000357183.4																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.e4-2		retinoic acid early transcript 1E																																				SO:0001630	splice_region_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150209805_150209806insAA	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.623-2->TT	6.37:g.150209814_150209815dupAA						RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Splice_Site|RAET1E_ENST00000532335.1_Intron|RP11-244K5.1_ENST00000605899.1_RNA		NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	4	755	-		Ovarian(120;0.0907)						A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Splice_Site	INS	ENST00000357183.4	37		CCDS5221.1																																																																																				0.371	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165	Intron	12	243						12	243	---	---	---	---	AA	150209806	-	AA	150209805	8	5	87	1	0	1	1	0	0	0	1	0	13049	1536	53	0	174	0	RAET1E	6	150209805	Splice_Site	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	13466872	150209805	20905262	51	33072											
ARID1B	57492	broad.mit.edu	37	chr6	157528497	157528497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactgtgggacccaactcGgtcctgtcgcctcagagact	10	15	1	1	rs373301793		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:157528497G>A	ENST00000350026.5	+	19	6184	c.6183G>A	c.(6181-6183)tcG>tcA	p.S2061S	ARID1B_ENST00000346085.5_Silent_p.S2074S|ARID1B_ENST00000275248.4_Silent_p.S2056S|ARID1B_ENST00000367148.1_Silent_p.S2114S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2061					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)		GACCCAACTCGGTCCTGTCGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21077	0.0		0.0	False		,,,				2504	0.001					ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6220-6222)tcG>tcA		AT rich interactive domain 1B (SWI1-like)							188	194	192					6																	157528497		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528497G>A	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.6183G>A	6.37:g.157528497G>A						ARID1B_ENST00000275248.4_Silent_p.S2056S|ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000350026.5_Silent_p.S2061S	p.S2074S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6223	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2061					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.6222G>A	CCDS5251.2																																																																																				0.532	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		40	991	0	0	0	1	0	40	991					A	157528497	G	A	157528497	2	1	87	1	0	0	0	0	0	0	0	1	914	1103	39	1		1	ARID1B	6	157528497	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	7318692	157528497	13586570	52	33073											
HECW1	23072	broad.mit.edu	37	chr7	43484703	43484703	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctggccaatggcgcGgcccaggatggcgacacgca	14	16	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:43484703G>A	ENST00000395891.2	+	11	2537	c.1932G>A	c.(1930-1932)gcG>gcA	p.A644A	HECW1_ENST00000453890.1_Silent_p.A644A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	644					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						CCAATGGCGCGGCCCAGGATG	0.711																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1930-1932)gcG>gcA		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							12	17	16					7																	43484703		2094	4189	6283	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484703G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1932G>A	7.37:g.43484703G>A						HECW1_ENST00000453890.1_Silent_p.A644A	p.A644A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	2537	+			644					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1932G>A	CCDS5469.2																																																																																				0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		6	160	0	0	0	1	0	6	160					A	43484703	G	A	43484703	2	1	87	1	0	0	0	0	0	0	0	1	7072	1103	39	1		1	HECW1	7	43484703	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		43484703	115653960	53	33074											
AEBP1	165	broad.mit.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-													tgaggaagaggaggaggaggAgaaagaggaggagatagcca					rs13928	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		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						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gaa>g		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	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.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del					AEBP1_ENST00000450684.2_In_Frame_Del_p.EK707del	p.EK1132del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1132			Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	290						8	290	---	---	---	---	-	44153780	AGA	-	44153778	7	5	87	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-IB-A5ST-01A-11D-A32N-08	669075	44153778	114984885	54	33075											
RSBN1L	222194	broad.mit.edu	37	chr7	77326220	77326222	+	In_Frame_Del	DEL	CCG	CCG	-													gcctcaccatctcctcctgcCcgccgccgccgccgctgcct							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:77326220_77326222delCCG	ENST00000334955.8	+	1	461_463	c.434_436delCCG	c.(433-438)cccgcc>ccc	p.A151del	RSBN1L-AS1_ENST00000440088.1_lincRNA|RSBN1L_ENST00000445288.1_5'Flank	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	151	Poly-Ala.					nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTCCTGCCCGCCGCCGCCGC	0.685																																						ENST00000334955.7																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(433-438)ccc>c		round spermatid basic protein 1-like																																				SO:0001651	inframe_deletion	222194					nucleus		g.chr7:77326220_77326222delCCG	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.434_436delCCG	7.37:g.77326229_77326231delCCG	ENSP00000334040:p.Ala151del						p.PA145del	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN			1	461_463	+			145					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	In_Frame_Del	DEL	ENST00000334955.8	37	c.434_436delCCG	CCDS43607.1																																																																																				0.685	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		7	205						7	205	---	---	---	---	-	77326222	CCG	-	77326220	7	5	87	1	0	1	0	1	0	0	0	0	13747	623	22	0	436	0	RSBN1L	7	77326220	In_Frame_Del	DEL	CCG	TCGA-IB-A5ST-01A-11D-A32N-08	33172442	77326220	81812443	55	33076											
ABCB4	5244	broad.mit.edu	37	chr7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A													gaaagctccaattaggattgINSaaaaaaaaacctgagcaaaa							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs	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	339	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)	p.S339fs*3(1)		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)	AATTAGGATTGAAAAAAAAACC	0.347																																						ENST00000265723.4																			1	Deletion - Frameshift(1)	p.S339fs*3(1)	lung(1)	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	GRCh37	CD034702|CI034710	ABCB4	D|I		c.(1015-1017)aatfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074281_87074282insA	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.1016dupT	7.37:g.87074290_87074290dupA	ENSP00000265723:p.Ser339fs					ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.N339fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.N339fs	p.N339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			10	1126_1127	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		339			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.1015_1016insT	CCDS5606.1																																																																																				0.347	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		7	123						7	123	---	---	---	---	A	87074282	-	A	87074281	7	5	87	1	0	1	1	0	0	0	0	0	43	1294	45	0	2920	0	ABCB4	7	87074281	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	9748061	87074281	72064382	56	33077											
ZAN	7455	broad.mit.edu	37	chr7	100350369	100350369	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggaaaaactcaccatcCccacggaaaaacccaccatc	4	18	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:100350369C>T	ENST00000348028.3	+	0	2806				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_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)			ACTCACCATCCCCACGGAAAA	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							330	374	360					7																	100350369		1879	4104	5983			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350369C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350369C>T						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2789	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	t	12.08	1.829829	0.32329	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.62364	0.03;0.03;0.03	3.97	-1.19	0.09585	.	0.829681	0.09846	N	0.748253	T	0.50497	0.1619	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.29162	0.235;0.052	B;B	0.31812	0.136;0.061	T	0.45011	-0.9290	10	0.52906	T	0.07	.	9.0839	0.36570	0.0:0.454:0.0:0.546	.	881;881	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	881	ENSP00000445943:P881S;ENSP00000445091:P881S;ENSP00000444427:P881S	ENSP00000423579:P881S	P	+	1	0	ZAN	100188305	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.054000	0.00626	-0.441000	0.07201	-0.888000	0.02935	CCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	588	0	0	0	1	0	5	588					T	100350369	C	T	100350369	1	4	87	0	1	0	0	0	0	0	0	0	17567	623	22	2		2	ZAN	7	100350369	RNA	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	13276088	100350369	58788294	57	33078											
SCARA3	51435	broad.mit.edu	37	chr8	27528420	27528420	+	Frame_Shift_Del	DEL	C	C	-													cttctctccaacctcaggtgCccccggccctccaggaccaa							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:27528420delC	ENST00000301904.3	+	6	1393	c.1373delC	c.(1372-1374)gccfs	p.A458fs	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	458	Collagen-like 1.				receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTCAGGTGCCCCCGGCCCT	0.667																																						ENST00000301904.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9						c.(1372-1374)gcfs		scavenger receptor class A, member 3							59	67	64					8																	27528420		2200	4294	6494	SO:0001589	frameshift_variant	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27528420delC	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1373delC	8.37:g.27528420delC	ENSP00000301904:p.Ala458fs					SCARA3_ENST00000337221.4_Intron	p.A458fs	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	6	1393	+		Ovarian(32;2.61e-05)	458			Collagen-like 1.		Q9UM15|Q9UM16	Frame_Shift_Del	DEL	ENST00000301904.3	37	c.1373delC	CCDS34871.1																																																																																				0.667	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		8	889						8	889	---	---	---	---	-	27528420	C	-	27528420	7	5	87	1	0	1	0	1	0	0	0	0	13929	739	26	0	1395	0	SCARA3	8	27528420	Frame_Shift_Del	DEL	C	TCGA-IB-A5ST-01A-11D-A32N-08		27528420	118835602	58	33079											
ESCO2	157570	broad.mit.edu	37	chr8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A													tgatgtagagactgtcagtgINSaaaaaaaaacttttgcgaca					rs80359854|rs80359853		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	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	251					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)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				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	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	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.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		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)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		9	268						9	268	---	---	---	---	A	27634577	-	A	27634576	7	5	87	1	0	1	1	0	0	0	0	0	5267	1291	45	0	757	0	ESCO2	8	27634576	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	106156	27634576	118729446	59	33080											
ANK1	286	broad.mit.edu	37	chr8	41519413	41519413	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcgtgctcctgggcgGcatcggcgctggacaagtct	13	15	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:41519413G>A	ENST00000347528.4	-	41	5608	c.5525C>T	c.(5524-5526)gCc>gTc	p.A1842V	ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000396942.1_Missense_Mutation_p.A1842V|ANK1_ENST00000396945.1_Intron|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000520418.1_RNA|RP11-930P14.1_ENST00000522388.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1842	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTGGGCGGCATCGGCGCT	0.572																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5524-5526)gCc>gTc		ankyrin 1, erythrocytic							50	55	53					8																	41519413		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519413G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5525C>T	8.37:g.41519413G>A	ENSP00000339620:p.Ala1842Val					RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|ANK1_ENST00000396945.1_Intron	p.A1842V			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5608	-	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)	1842			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5525C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223834	0.22457	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.86432	-0.2;-0.18;-0.18;-1.71;-2.11;-2.12;-0.23	5.94	2.12	0.27331	.	0.199600	0.40144	N	0.001173	T	0.81645	0.4866	L	0.42245	1.32	0.53005	D	0.99996	P;B;B;B;B;B;B;P;P	0.39940	0.481;0.005;0.125;0.001;0.0;0.0;0.076;0.572;0.696	B;B;B;B;B;B;B;B;B	0.41946	0.137;0.002;0.056;0.0;0.0;0.001;0.042;0.371;0.173	T	0.76465	-0.2949	10	0.42905	T	0.14	.	8.182	0.31315	0.0:0.0672:0.2624:0.6704	.	117;1883;1680;1842;1842;1842;996;117;117	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	V	1842;1842;1842;117;117;117;1883	ENSP00000339620:A1842V;ENSP00000289734:A1842V;ENSP00000380147:A1842V;ENSP00000428750:A117V;ENSP00000430368:A117V;ENSP00000319123:A117V;ENSP00000265709:A1883V	ENSP00000265709:A1883V	A	-	2	0	ANK1	41638570	0.851000	0.29673	0.459000	0.27081	0.000000	0.00434	0.325000	0.19628	0.502000	0.28037	-0.397000	0.06425	GCC		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		6	400	0	0	0	1	0	6	400					A	41519413	G	A	41519413	3	1	87	1	0	0	0	0	1	0	0	0	620	1203	42	2	231	2	ANK1	8	41519413	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	13884837	41519413	104844609	60	33081											
ASPH	444	broad.mit.edu	37	chr8	62588724	62588726	+	Intron	DEL	TTC	TTC	-													acaccatctgcggtttcgctTtcttcttcttcttcttctag							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:62588724_62588726delTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000517903.1_Intron|ASPH_ENST00000379449.6_In_Frame_Del_p.E174del|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522835.1_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						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)	CGGTTTCGCTTTCTTCTTCTTCT	0.369																																						ENST00000379449.6																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(520-522)del		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)																																			SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62588724_62588726delTTC	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.322+4800GAA>-	8.37:g.62588733_62588735delTTC						ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000379454.4_Intron	p.E174del	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN			5	694_696	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	0			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Del	DEL	ENST00000379454.4	37	c.520_522delGAA	CCDS34898.1																																																																																				0.369	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		7	222						7	222	---	---	---	---	-	62588726	TTC	-	62588724	6	5	87	0	1	1	0	1	0	0	0	0	1054	1838	64	0		0	ASPH	8	62588724	Intron	DEL	TTC	TCGA-IB-A5ST-01A-11D-A32N-08	21069311	62588724	83775298	61	33082											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	11	14	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22	31	28					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	317	0	0	0	1	0	6	317					A	20414313	G	A	20414313	2	1	87	1	0	0	0	0	0	0	0	1	9669	1310	46	2		2	MLLT3	9	20414313	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		20414313	120799118	62	33083											
TAF1L	138474	broad.mit.edu	37	chr9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-													tctgaatgggaaggaaaggcTttttttatatcttccattcg							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:32633025delT	ENST00000242310.4	-	1	2642	c.2553delA	c.(2551-2553)aaafs	p.K851fs	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	851					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGAAAGGCTTTTTTTATAT	0.443																																						ENST00000242310.4																			0				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						c.(2551-2553)aafs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							113	120	117					9																	32633025		2203	4298	6501	SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633025delT	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.2553delA	9.37:g.32633025delT	ENSP00000418379:p.Lys851fs						p.K851fs	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2642	-			851					Q0VG57	Frame_Shift_Del	DEL	ENST00000242310.4	37	c.2553delA	CCDS35003.1																																																																																				0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	805						7	805	---	---	---	---	-	32633025	T	-	32633025	7	5	87	1	0	1	0	1	0	0	0	0	15575	1606	56	0	2931	0	TAF1L	9	32633025	Frame_Shift_Del	DEL	T	TCGA-IB-A5ST-01A-11D-A32N-08	12218712	32633025	108580406	63	33084											
PRUNE2	158471	broad.mit.edu	37	chr9	79320990	79320990	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctatccacaagtcaggcGcggcagaggccagctgccca	11	15	2	1	rs374932024		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:79320990G>A	ENST00000376718.3	-	8	6323	c.6200C>T	c.(6199-6201)gCg>gTg	p.A2067V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1708V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2067					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						CAAGTCAGGCGCGGCAGAGGC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20429	0.001		0.0	False		,,,				2504	0.0					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5122-5124)gCg>gTg		prune homolog 2 (Drosophila)		G	VAL/ALA	0,3136		0,0,1568	136	128	131		6200	3.9	0	9		131	1,7163		0,1,3581	no	missense	PRUNE2	NM_015225.2	64	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	2067/3089	79320990	1,10299	1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320990G>A	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.6200C>T	9.37:g.79320990G>A	ENSP00000365908:p.Ala2067Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2067V	p.A1708V			Q8WUY3	PRUN2_HUMAN			8	6323	-			2067					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5123C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313854	0.05422	0.0	1.4E-4	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.42131	0.98;0.98	6.03	3.94	0.45596	.	0.708846	0.12837	N	0.435169	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.27606	-1.0069	10	0.05959	T	0.93	-5.9616	6.8158	0.23829	0.0987:0.0:0.5223:0.379	.	2067	Q8WUY3	PRUN2_HUMAN	V	2067;1708;2066	ENSP00000365908:A2067V;ENSP00000397425:A1708V	ENSP00000365908:A2067V	A	-	2	0	PRUNE2	78510810	0.011000	0.17503	0.005000	0.12908	0.012000	0.07955	1.895000	0.39778	1.500000	0.48636	0.655000	0.94253	GCG		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	628	0	0	0	1	0	7	628					A	79320990	G	A	79320990	3	1	87	1	0	0	0	0	1	0	0	0	12688	1087	38	1	3114	1	PRUNE2	9	79320990	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	46687965	79320990	61892441	64	33085											
HABP4	22927	broad.mit.edu	37	chr9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccgagagggggtatgCgcggcagaggcagaggtggc	22	8	0	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(577-579)Cgc>Tgc		hyaluronan binding protein 4							101	114	109					9																	99227683		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227683C>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys					HABP4_ENST00000375251.3_Intron	p.R193C	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			3	652	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.577C>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		8	528	0	0	0	1	0	8	528					T	99227683	C	T	99227683	3	4	87	1	0	0	0	0	1	0	0	0	6969	768	27	1	587	1	HABP4	9	99227683	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	19906693	99227683	41985748	65	33086											
OBP2B	29989	broad.mit.edu	37	chr9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcccggttggtatcagAattcctacctgcaggtgagg	13	11	1	2	rs1132279	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													A|||	2	0.000399361	0.0008	0.0	5008	,	,		15717	0.001		0.0	False		,,,				2504	0.0					ENST00000372034.3																			2	Substitution - Missense(2)	p.S133P(2)	lung(1)|central_nervous_system(1)	central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7						c.(397-399)Tct>Cct		odorant binding protein 2B							79	74	76					9																	136081795		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081795A>G	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"Lipocalins"	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.397T>C	9.37:g.136081795A>G	ENSP00000361104:p.Ser133Pro					OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	p.S133P	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	438	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.397T>C	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130056	0.00338	.	.	ENSG00000171102	ENST00000372034	T	0.05855	3.38	2.38	-0.713	0.11223	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	N	0.160204	T	0.01029	0.0034	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	10	0.02654	T	1	-11.4445	5.2433	0.15483	0.4751:0.0:0.5249:0.0	rs1132279;rs3192931	133	Q9NPH6	OBP2B_HUMAN	P	133	ENSP00000361104:S133P	ENSP00000361104:S133P	S	-	1	0	OBP2B	135071616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.185000	0.10550	-1.067000	0.02272	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		6	291	0	0	0	1	0	6	291					G	136081795	A	G	136081795	3	3	87	1	0	0	0	0	1	0	0	0	10853	246	9	4	123	4	OBP2B	9	136081795	Missense_Mutation	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	36854112	136081795	5131636	66	33087											
ADAMTS13	11093	broad.mit.edu	37	chr9	136310876	136310876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggggcagcatcaggacGggggctcaagctgcacacgt	15	12	2	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136310876G>A	ENST00000371929.3	+	21	3111	c.2667G>A	c.(2665-2667)acG>acA	p.T889T	ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.T889T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	889					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)		GCATCAGGACGGGGGCTCAAG	0.677																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(2665-2667)acG>acA		ADAM metallopeptidase with thrombospondin type 1 motif, 13							51	49	49					9																	136310876		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136310876G>A	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.2667G>A	9.37:g.136310876G>A						ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T	p.T889T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	21	3111	+			889					Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.2667G>A	CCDS6970.1																																																																																				0.677	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		6	277	0	0	0	1	0	6	277					A	136310876	G	A	136310876	2	1	87	1	0	0	0	0	0	0	0	1	258	1103	39	1		1	ADAMTS13	9	136310876	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	229081	136310876	4902555	67	33088											
ITIH5	80760	broad.mit.edu	37	chr10	7679231	7679231	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcctgctgttgtgaagCggcagcacctccagggatgc	13	13	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:7679231C>T	ENST00000256861.6	-	5	690	c.612G>A	c.(610-612)ccG>ccA	p.P204P	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P204P|ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	204					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						TGTTGTGAAGCGGCAGCACCT	0.647																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(610-612)ccG>ccA		inter-alpha-trypsin inhibitor heavy chain family, member 5							83	87	86					10																	7679231		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679231C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.612G>A	10.37:g.7679231C>T						ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P204P	p.P204P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			5	690	-			204					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.612G>A																																																																																					0.647	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		24	709	0	0	0	1	0	24	709					T	7679231	C	T	7679231	2	4	87	1	0	0	0	0	0	0	0	1	7937	755	27	1		1	ITIH5	10	7679231	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		7679231	127855516	68	33089											
RRP12	23223	broad.mit.edu	37	chr10	99118343	99118343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaggcatagggatccgGccggcctttcttcttcacat	11	11	3	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:99118343G>A	ENST00000370992.4	-	33	3853	c.3742C>T	c.(3742-3744)Ccg>Tcg	p.P1248S	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S|RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1248						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAGGGATCCGGCCGGCCTTTC	0.582																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3742-3744)Ccg>Tcg		ribosomal RNA processing 12 homolog (S. cerevisiae)							226	227	227					10																	99118343		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99118343G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3742C>T	10.37:g.99118343G>A	ENSP00000360031:p.Pro1248Ser					RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S	p.P1248S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	33	3853	-		Colorectal(252;0.162)	1248					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3742C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478849	0.12581	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.31510	1.49;1.49;1.5;1.49	5.74	4.83	0.62350	.	0.779601	0.12532	N	0.460711	T	0.31888	0.0811	M	0.62723	1.935	0.09310	N	1	B;B;P;B	0.35456	0.357;0.284;0.502;0.07	B;B;B;B	0.31751	0.039;0.054;0.135;0.039	T	0.12528	-1.0544	10	0.27082	T	0.32	-0.6992	13.8073	0.63240	0.0:0.0:0.7211:0.2789	.	1187;1148;966;1248	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	S	1248;1148;1187;966	ENSP00000360031:P1248S;ENSP00000324315:P1148S;ENSP00000414863:P1187S;ENSP00000446184:P966S	ENSP00000324315:P1148S	P	-	1	0	RRP12	99108333	0.535000	0.26370	0.048000	0.18961	0.005000	0.04900	3.810000	0.55613	1.409000	0.46915	-0.314000	0.08810	CCG		0.582	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		7	1208	0	0	0	1	0	7	1208					A	99118343	G	A	99118343	3	1	87	1	0	0	0	0	1	0	0	0	13736	1203	42	2	159	2	RRP12	10	99118343	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	91439112	99118343	36416404	69	33090											
ABCC2	1244	broad.mit.edu	37	chr10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-													aaaaaaagaagtctgggaccAaaaaagatgttccaaaatcc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aaafs	p.K303fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303					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)	GTCTGGGACCAAAAAAGATGT	0.403																																						ENST00000370449.4																			0				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						c.(904-906)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						195	213	207					10																	101559000		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559000delA	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.904delA	10.37:g.101559000delA	ENSP00000359478:p.Lys303fs						p.K303fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1017	+		Colorectal(252;0.234)	303					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.904delA	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	886						7	886	---	---	---	---	-	101559000	A	-	101559000	7	5	87	1	0	1	0	1	0	0	0	0	53	131	5	0	934	0	ABCC2	10	101559000	Frame_Shift_Del	DEL	A	TCGA-IB-A5ST-01A-11D-A32N-08	2440657	101559000	33975747	70	33091											
PDCD4	27250	broad.mit.edu	37	chr10	112641004	112641004	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctttaagatcctgataacttAagtgactctctcttttccgg	6	10	2	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:112641004A>T	ENST00000280154.7	+	3	331	c.57A>T	c.(55-57)ttA>ttT	p.L19F	PDCD4_ENST00000393104.2_Missense_Mutation_p.L8F	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	19					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGATAACTTAAGTGACTCTC	0.308																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(22-24)ttA>ttT		programmed cell death 4 (neoplastic transformation inhibitor)							61	71	68					10																	112641004		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641004A>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.57A>T	10.37:g.112641004A>T	ENSP00000280154:p.Leu19Phe					PDCD4_ENST00000280154.7_Missense_Mutation_p.L19F	p.L8F	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	384	+		Breast(234;0.0848)|Lung NSC(174;0.238)	19					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.24A>T	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153586	0.57259	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.40756	1.02;1.12	5.42	4.29	0.51040	.	0.071705	0.56097	D	0.000024	T	0.35422	0.0931	N	0.20685	0.6	0.51233	D	0.999912	D;P	0.65815	0.995;0.845	P;B	0.56278	0.795;0.261	T	0.13415	-1.0510	10	0.10377	T	0.69	-8.0641	8.1263	0.31001	0.7861:0.0:0.2139:0.0	.	19;8	Q53EL6;B5ME91	PDCD4_HUMAN;.	F	19;8	ENSP00000280154:L19F;ENSP00000376816:L8F	ENSP00000280154:L19F	L	+	3	2	PDCD4	112630994	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.052000	0.30429	1.002000	0.39104	-0.334000	0.08254	TTA		0.308	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		6	342	0	0	0	1	0	6	342					T	112641004	A	T	112641004	3	4	87	1	0	0	0	0	1	0	0	0	11663	359	13	5	77	5	PDCD4	10	112641004	Missense_Mutation	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	11082004	112641004	22893743	71	33092											
ACSL5	51703	broad.mit.edu	37	chr10	114185121	114185121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctgaagatcatcgaccGtaaaaagaacattttcaagc	6	9	3	3	rs201183294		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:114185121G>A	ENST00000393081.1	+	18	1926	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	540					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|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)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCATCGACCGTAAAAAGAAC	0.388																																						ENST00000393081.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(1618-1620)cGt>cAt		acyl-CoA synthetase long-chain family member 5							103	96	99					10																	114185121		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114185121G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1619G>A	10.37:g.114185121G>A	ENSP00000376796:p.Arg540His					ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H	p.R540H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	18	1926	+		Colorectal(252;0.117)|Breast(234;0.222)	540					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.1619G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397637	0.96009	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.76	5.76	0.90799	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	H	0.99944	5.01	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;0.998;0.999;0.999	D	0.94232	0.7477	10	0.87932	D	0	-12.4887	19.9576	0.97228	0.0:0.0:1.0:0.0	.	322;540;596;540	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	H	540;540;596;540;540;322	ENSP00000346680:R540H;ENSP00000376796:R540H;ENSP00000348429:R596H;ENSP00000403647:R540H;ENSP00000346223:R540H;ENSP00000358418:R322H	ENSP00000346223:R540H	R	+	2	0	ACSL5	114175111	1.000000	0.71417	0.964000	0.40570	0.869000	0.49853	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CGT		0.388	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		6	302	0	0	0	1	0	6	302					A	114185121	G	A	114185121	3	1	87	1	0	0	0	0	1	0	0	0	180	1145	40	1	1857	1	ACSL5	10	114185121	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1544117	114185121	21349626	72	33093											
HTRA1	5654	broad.mit.edu	37	chr10	124273731	124273731	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggtctcaaggaaaacgacgtCataatcagcatcaatggaca	9	9	4	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:124273731C>A	ENST00000368984.3	+	9	1427	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	433	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)				AAAACGACGTCATAATCAGCA	0.493																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1297-1299)gtC>gtA		HtrA serine peptidase 1							336	302	314					10																	124273731		2203	4300	6503	SO:0001819	synonymous_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124273731C>A	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.1299C>A	10.37:g.124273731C>A							p.V433V	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			9	1427	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	433			PDZ.		D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	c.1299C>A	CCDS7630.1																																																																																				0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		21	963	1	0	7.07596e-05	1	7.3922e-05	21	963					A	124273731	C	A	124273731	2	1	87	1	0	0	0	0	0	0	0	1	7483	813	29	3		3	HTRA1	10	124273731	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	10088610	124273731	11261016	73	33094											
SLC25A22	79751	broad.mit.edu	37	chr11	792328	792328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaggggttgacggccacagCggcggcactcccagccacac	13	16	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:792328C>T	ENST00000320230.5	-	8	1199	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T|CEND1_ENST00000524587.1_5'Flank|CEND1_ENST00000330106.4_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	240					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGGCCACAGCGGCGGCACTC	0.682																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(718-720)Gct>Act		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						50	60	57					11																	792328		2203	4297	6500	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792328C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.718G>A	11.37:g.792328C>T	ENSP00000322020:p.Ala240Thr					SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T	p.A240T	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1199	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	240					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.718G>A	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962796	0.53507	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.78595	-1.19;-1.19	3.8	2.88	0.33553	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	L	0.38953	1.18	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.76345	-0.2993	10	0.31617	T	0.26	-17.7338	11.5497	0.50713	0.0:0.9115:0.0:0.0885	.	240	Q9H936	GHC1_HUMAN	T	240	ENSP00000322020:A240T;ENSP00000437236:A240T	ENSP00000322020:A240T	A	-	1	0	SLC25A22	782328	1.000000	0.71417	0.020000	0.16555	0.002000	0.02628	5.614000	0.67695	0.959000	0.37980	-0.199000	0.12753	GCT		0.682	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			15	672	0	0	0	1	0	15	672					T	792328	C	T	792328	3	4	87	1	0	0	0	0	1	0	0	0	14535	768	27	1	265	1	SLC25A22	11	792328	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		792328	134214188	74	33095											
NUP98	4928	broad.mit.edu	37	chr11	3697456	3697456	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcagttcgtccatggcaTagtcctcaggcatgggaagc	13	11	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:3697456T>C	ENST00000324932.7	-	33	5756	c.5336A>G	c.(5335-5337)tAt>tGt	p.Y1779C	NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1796					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)		GTCCATGGCATAGTCCTCAGG	0.592			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5335-5337)tAt>tGt		nucleoporin 98kDa							91	87	89					11																	3697456		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697456T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5336A>G	11.37:g.3697456T>C	ENSP00000316032:p.Tyr1779Cys					NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C	p.Y1779C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5756	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1796					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.5336A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410072	0.62399	.	.	ENSG00000110713	ENST00000324932;ENST00000355260	.	.	.	5.65	5.65	0.86999	.	0.218936	0.33144	N	0.005228	T	0.75436	0.3849	L	0.60455	1.87	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	0.75374	-0.3340	9	0.44086	T	0.13	-11.2226	14.719	0.69291	0.0:0.0:0.0:1.0	.	1705;1779;1693	P52948-2;P52948-5;P52948-6	.;.;.	C	1779;1705	.	ENSP00000316032:Y1779C	Y	-	2	0	NUP98	3654032	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.619000	0.83057	2.161000	0.67846	0.454000	0.30748	TAT		0.592	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		13	398	0	0	0	1	0	13	398					C	3697456	T	C	3697456	3	2	87	1	0	0	0	0	1	0	0	0	10815	1406	49	4	70	4	NUP98	11	3697456	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	2905128	3697456	131309060	75	33096											
OR10A2	341276	broad.mit.edu	37	chr11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-													gctgtgccactcagatgtatTtcttcttcttctttggagtg							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						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)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	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.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		8	675						8	675	---	---	---	---	-	6891255	TTC	-	6891253	7	5	87	1	0	1	0	1	0	0	0	0	10932	1841	64	0	270	0	OR10A2	11	6891253	In_Frame_Del	DEL	TTC	TCGA-IB-A5ST-01A-11D-A32N-08	3193797	6891253	128115263	76	33097											
CYB5R2	51700	broad.mit.edu	37	chr11	7689748	7689748	+	Frame_Shift_Del	DEL	T	T	-													tcccaggtgatcggccagtgTttttttaggctcactcgtct							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:7689748delT	ENST00000533558.1	-	6	989	c.433delA	c.(433-435)acafs	p.T145fs	CYB5R2_ENST00000524790.1_Frame_Shift_Del_p.T145fs|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Frame_Shift_Del_p.T145fs|CYB5R2_ENST00000299497.9_Frame_Shift_Del_p.T145fs			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	145					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGGCCAGTGTTTTTTTAGGC	0.517																																						ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(433-435)cafs		cytochrome b5 reductase 2							210	203	206					11																	7689748		2201	4296	6497	SO:0001589	frameshift_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7689748delT	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.433delA	11.37:g.7689748delT	ENSP00000437041:p.Thr145fs					CYB5R2_ENST00000524790.1_Frame_Shift_Del_p.T145fs|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299497.9_Frame_Shift_Del_p.T145fs|CYB5R2_ENST00000299498.6_Frame_Shift_Del_p.T145fs	p.T145fs			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	6	989	-			145					Q9BVA3|Q9UF68|Q9UHJ0	Frame_Shift_Del	DEL	ENST00000533558.1	37	c.433delA	CCDS7780.1																																																																																				0.517	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		7	1116						7	1116	---	---	---	---	-	7689748	T	-	7689748	7	5	87	1	0	1	0	1	0	0	0	0	4138	1725	60	0	413	0	CYB5R2	11	7689748	Frame_Shift_Del	DEL	T	TCGA-IB-A5ST-01A-11D-A32N-08	798495	7689748	127316768	77	33098											
CKAP5	9793	broad.mit.edu	37	chr11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctggtcccttgcGtaacatgttggcattggagc	12	11	1	0	rs540835227		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|SNORD67_ENST00000516618.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					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)		p.R1453C(1)		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						GGTCCCTTGCGTAACATGTTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20329	0.001		0.0	False		,,,				2504	0.0				Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			1	Substitution - Missense(1)	p.R1453C(1)	kidney(1)	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						c.(4357-4359)Cgc>Tgc		cytoskeleton associated protein 5							239	197	211					11																	46782199		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46782199G>A		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.4357C>T	11.37:g.46782199G>A	ENSP00000432768:p.Arg1453Cys					CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C	p.R1453C			Q14008	CKAP5_HUMAN			33	4403	-			1453					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4357C>T	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.036557|4.036557	0.75617|0.75617	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.51071|.	0.72;0.74;0.74;0.74|.	6.03|6.03	5.12|5.12	0.69794|0.69794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.004;0.002|.	D;B;B|.	0.72625|.	0.978;0.001;0.0|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.59425|.	D|.	0.04|.	-10.0088|-10.0088	15.5956|15.5956	0.76578|0.76578	0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0	.|.	1453;1453;1453|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	C|M	1453;1453;1453;1453;176|1	ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|.	ENSP00000310227:R1453C|.	R|T	-|-	1|2	0|0	CKAP5|CKAP5	46738775|46738775	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.997000|0.997000	0.91878|0.91878	5.506000|5.506000	0.66993|0.66993	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.483	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		8	271	0	0	0	1	0	8	271					A	46782199	G	A	46782199	3	1	87	1	0	0	0	0	1	0	0	0	3454	1145	40	1	1789	1	CKAP5	11	46782199	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	39092451	46782199	88224317	78	33099											
OR5D13	390142	broad.mit.edu	37	chr11	55541693	55541693	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catggaactatccttttcctTtactgtgttcctaatcctaa	4	11	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:55541693T>C	ENST00000361760.1	+	1	780	c.780T>C	c.(778-780)ctT>ctC	p.L260L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	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)|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)				TCCTTTTCCTTTACTGTGTTC	0.458																																						ENST00000361760.1																			0				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						c.(778-780)ctT>ctC		olfactory receptor, family 5, subfamily D, member 13							122	99	107					11																	55541693		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541693T>C	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.780T>C	11.37:g.55541693T>C							p.L260L	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	780	+		all_epithelial(135;0.196)	260					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.780T>C	CCDS31507.1																																																																																				0.458	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		4	325	0	0	0	1	0	4	325					C	55541693	T	C	55541693	2	2	87	1	0	0	0	0	0	0	0	1	11196	1828	64	4		4	OR5D13	11	55541693	Silent	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	8759494	55541693	79464823	79	33100											
PGA3	643834	broad.mit.edu	37	chr11	60971045	60971047	+	In_Frame_Del	DEL	GCT	GCT	-													ccgggaagaaccatgaagtgGctgctgctgctgggtctggt							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:60971045_60971047delGCT	ENST00000325558.6	+	1	194_196	c.9_11delGCT	c.(7-12)tggctg>tgg	p.L7del		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	7					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						CCATGAAGTGGCTGCTGCTGCTG	0.567																																						ENST00000325558.6																			0				endometrium(1)|lung(1)|ovary(1)|skin(2)	5						c.(7-12)tgg>tg		pepsinogen 3, group I (pepsinogen A)																																				SO:0001651	inframe_deletion	643834							g.chr11:60971045_60971047delGCT	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.9_11delGCT	11.37:g.60971054_60971056delGCT	ENSP00000322192:p.Leu7del						p.WL3del	NM_001079807.1	NP_001073275.1					1	194_196	+								A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	In_Frame_Del	DEL	ENST00000325558.6	37	c.9_11delGCT	CCDS31574.1																																																																																				0.567	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397955.2	NM_001079807		7	595						7	595	---	---	---	---	-	60971047	GCT	-	60971045	7	5	87	1	0	1	0	1	0	0	0	0	11813	1212	42	0	11	0	PGA3	11	60971045	In_Frame_Del	DEL	GCT	TCGA-IB-A5ST-01A-11D-A32N-08	5429352	60971045	74035471	80	33101											
TYR	7299	broad.mit.edu	37	chr11	88911586	88911586	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcatccccatagggacCtatggccaaatgaaaaatgg	9	9	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A). {ECO:0000269|PubMed:15146472}.		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)	CCATAGGGACCTATGGCCAAA	0.413																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(463-465)acC>acA		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						157	149	151					11																	88911586		2201	4299	6500	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911586C>A	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.465C>A	11.37:g.88911586C>A						TYR_ENST00000526139.1_3'UTR	p.T155T	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			1	967	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	155		T -> S (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.465C>A	CCDS8284.1																																																																																				0.413	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		24	627	1	0	1.10923e-09	1	1.17856e-09	24	627					A	88911586	C	A	88911586	2	1	87	1	0	0	0	0	0	0	0	1	16867	668	24	3		3	TYR	11	88911586	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	27940541	88911586	46094930	81	33102											
MTNR1B	4544	broad.mit.edu	37	chr11	92715132	92715132	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagcccagcgacttgcGgagctttctaaccatgtttg	10	12	1	1	rs150751119		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:92715132G>A	ENST00000257068.2	+	2	749	c.743G>A	c.(742-744)cGg>cAg	p.R248Q		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	248					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGCGACTTGCGGAGCTTTCTA	0.572																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(742-744)cGg>cAg		melatonin receptor 1B	Ramelteon(DB00980)	G	GLN/ARG	0,4402		0,0,2201	114	94	101		743	4.2	1	11	dbSNP_134	101	1,8595	1.2+/-3.3	0,1,4297	no	missense	MTNR1B	NM_005959.3	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	248/363	92715132	1,12997	2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715132G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.743G>A	11.37:g.92715132G>A	ENSP00000257068:p.Arg248Gln						p.R248Q	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	749	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	248						Missense_Mutation	SNP	ENST00000257068.2	37	c.743G>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069708	0.93950	0.0	1.16E-4	ENSG00000134640	ENST00000257068	T	0.40225	1.04	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.84683	2.71	0.80722	D	1	D	0.57257	0.979	P	0.51170	0.661	T	0.70923	-0.4740	10	0.72032	D	0.01	-22.6709	17.1314	0.86727	0.0:0.0:1.0:0.0	.	248	P49286	MTR1B_HUMAN	Q	248	ENSP00000257068:R248Q	ENSP00000257068:R248Q	R	+	2	0	MTNR1B	92354780	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	4.111000	0.57838	2.338000	0.79540	0.491000	0.48974	CGG		0.572	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			7	376	0	0	0	1	0	7	376					A	92715132	G	A	92715132	3	1	87	1	0	0	0	0	1	0	0	0	9993	1116	39	1	749	1	MTNR1B	11	92715132	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	3803546	92715132	42291384	82	33103											
LAYN	143903	broad.mit.edu	37	chr11	111428363	111428363	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggtttggatctgtagAaaaaggcaagtaaaaccttc	11	5	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:111428363A>G	ENST00000375615.3	+	7	965	c.780A>G	c.(778-780)agA>agG	p.R260R	LAYN_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000436913.2_Silent_p.R107R|LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	260						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)	GGATCTGTAGAAAAAGGCAAG	0.443																																					Ovarian(17;551 586 12136 22082 22900)	ENST00000436913.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14						c.(319-321)agA>agG		layilin							465	451	456					11																	111428363		2201	4297	6498	SO:0001819	synonymous_variant	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111428363A>G		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.780A>G	11.37:g.111428363A>G						LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000375615.3_Silent_p.R260R	p.R107R	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN		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)	5	722	+		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)	260			C-type lectin.		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	ENST00000375615.3	37	c.321A>G	CCDS58178.1																																																																																				0.443	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834		52	1669	0	0	0	1	0	52	1669					G	111428363	A	G	111428363	2	3	87	1	0	0	0	0	0	0	0	1	8680	243	9	4		4	LAYN	11	111428363	Silent	SNP	A	TCGA-IB-A5ST-01A-11D-A32N-08	18713231	111428363	23578153	83	33104											
USP2	9099	broad.mit.edu	37	chr11	119243920	119243920	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtctggctctctgcccGcttaccacccccagtgatgt	10	17	2	1	rs536224379|rs146943763	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:119243920G>A	ENST00000260187.2	-	2	565	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	91	Necessary for interaction with MDM4.				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)		CTCTCTGCCCGCTTACCACCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		16208	0.002		0.0	False		,,,				2504	0.0					ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(271-273)Cgg>Tgg		ubiquitin specific peptidase 2							63	71	69					11																	119243920		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243920G>A	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.271C>T	11.37:g.119243920G>A	ENSP00000260187:p.Arg91Trp					USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	p.R91W	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		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)	2	565	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	91			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.271C>T	CCDS8422.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	10.95	1.495124	0.26774	.	.	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.24538	1.85	5.37	3.3	0.37823	.	2.634020	0.01228	N	0.008277	T	0.23572	0.0570	L	0.27053	0.805	0.39645	D	0.970387	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.56958	D	0.05	-5.9847	9.6628	0.39965	0.0813:0.0:0.7696:0.1491	.	91	O75604	UBP2_HUMAN	W	91;61;91;91	ENSP00000260187:R91W	ENSP00000260187:R91W	R	-	1	2	USP2	118749130	0.941000	0.31946	0.996000	0.52242	0.734000	0.41952	2.168000	0.42424	1.262000	0.44165	-0.254000	0.11334	CGG		0.652	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		6	727	0	0	0	1	0	6	727					A	119243920	G	A	119243920	3	1	87	1	0	0	0	0	1	0	0	0	17105	1086	38	1	1745	1	USP2	11	119243920	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	7815557	119243920	15762596	84	33105											
POU2F3	25833	broad.mit.edu	37	chr11	120175780	120175780	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggatcctctttagaaccCcacctggaagcatcccagca	7	16	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:120175780C>A	ENST00000543440.2	+	7	636	c.486C>A	c.(484-486)ccC>ccA	p.P162P	POU2F3_ENST00000260264.4_Silent_p.P164P	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	162					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)		CTTTAGAACCCCACCTGGAAG	0.542																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(490-492)ccC>ccA		POU class 2 homeobox 3							66	70	69					11																	120175780		2203	4299	6502	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120175780C>A	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.486C>A	11.37:g.120175780C>A						POU2F3_ENST00000543440.2_Silent_p.P162P	p.P164P	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	7	526	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	162					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.492C>A	CCDS8431.1																																																																																				0.542	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			6	488	1	0	0.217242	1	0.220784	6	488					A	120175780	C	A	120175780	2	1	87	1	0	0	0	0	0	0	0	1	12315	610	22	3		3	POU2F3	11	120175780	Silent	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	931860	120175780	14830736	85	33106											
TECTA	7007	broad.mit.edu	37	chr11	121016448	121016448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctatggtctgtgtggccGctacaacggcaaccctgatg	11	13	1	1	rs376745254	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:121016448G>A	ENST00000392793.1	+	12	3999	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1243	VWFD 3. {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)		p.R1243H(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)		CTGTGTGGCCGCTACAACGGC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		22520	0.0		0.0	False		,,,				2504	0.002					ENST00000392793.1																		TECTA/TBCEL(2)	1	Substitution - Missense(1)	p.R1243H(1)	lung(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3727-3729)cGc>cAc		tectorin alpha		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	151	122	132		3728	4.8	1	11		132	0,8598		0,0,4299	no	missense	TECTA	NM_005422.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1243/2156	121016448	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016448G>A	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.3728G>A	11.37:g.121016448G>A	ENSP00000376543:p.Arg1243His					TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H	p.R1243H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	12	3999	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1243			VWFD 3.			Missense_Mutation	SNP	ENST00000392793.1	37	c.3728G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782117	0.70222	2.27E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59772	0.24;0.24	5.76	4.85	0.62838	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000005	T	0.55016	0.1894	L	0.36672	1.1	0.33742	D	0.619606	D	0.56287	0.975	P	0.50270	0.636	T	0.67632	-0.5621	10	0.59425	D	0.04	.	11.5134	0.50507	0.137:0.0:0.863:0.0	.	1243	O75443	TECTA_HUMAN	H	1243	ENSP00000376543:R1243H;ENSP00000264037:R1243H	ENSP00000264037:R1243H	R	+	2	0	TECTA	120521658	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.363000	0.44178	2.721000	0.93114	0.591000	0.81541	CGC		0.532	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		9	390	0	0	0	1	0	9	390					A	121016448	G	A	121016448	3	1	87	1	0	0	0	0	1	0	0	0	15799	1087	38	1	3770	1	TECTA	11	121016448	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	840668	121016448	13990068	86	33107											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	9	90						9	90	---	---	---	---	C	7080213	-	C	7080212	8	5	87	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08		7080212	126771683	87	33108											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		4	93	0	0	0	1	0	4	93					T	25398284	C	T	25398284	3	4	87	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	18318072	25398284	108453611	88	33109											
ADCY6	112	broad.mit.edu	37	chr12	49164612	49164612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatctgctccatgagccGcatggcgtagtcagccaggg	12	13	3	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:49164612G>A	ENST00000307885.4	-	19	3887	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W|MIR4701_ENST00000583094.1_RNA	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1065					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCATGAGCCGCATGGCGTAG	0.552																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(3193-3195)Cgg>Tgg		adenylate cyclase 6							121	111	114					12																	49164612		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49164612G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3193C>T	12.37:g.49164612G>A	ENSP00000311405:p.Arg1065Trp					ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W	p.R1065W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			19	3887	-			1065					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.3193C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109958	0.77210	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.31510	1.49;1.49;1.49	4.88	4.88	0.63580	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.85041	2.73	0.49130	D	0.999752	D;D	0.89917	1.0;0.999	D;D	0.75020	0.963;0.985	T	0.63202	-0.6690	10	0.72032	D	0.01	.	12.7647	0.57385	0.0:0.0:0.8354:0.1646	.	1012;1065	O43306-2;O43306	.;ADCY6_HUMAN	W	1012;1012;1065	ENSP00000350536:R1012W;ENSP00000446730:R1012W;ENSP00000311405:R1065W	ENSP00000311405:R1065W	R	-	1	2	ADCY6	47450879	0.952000	0.32445	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.649000	0.89929	0.650000	0.86243	CGG		0.552	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		6	421	0	0	0	1	0	6	421					A	49164612	G	A	49164612	3	1	87	1	0	0	0	0	1	0	0	0	298	1086	38	1	325	1	ADCY6	12	49164612	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	23766328	49164612	84687283	89	33110											
ACCN2	41	broad.mit.edu	37	chr12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-													caaggatggaactgaaggccGaggaggaggaggtgggtggc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:50452565_50452567delGAG	ENST00000447966.2	+	2	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000228468.4_In_Frame_Del_p.E9del	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	9					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)	ACTGAAGGCCGAGGAGGAGGAGG	0.616																																						ENST00000228468.4																			0											c.(16-18)del		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001651	inframe_deletion	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452565_50452567delGAG	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.16_18delGAG	12.37:g.50452574_50452576delGAG	ENSP00000400228:p.Glu9del					ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	401_403	+			9					A3KN86|E5KBL7|P78349|Q96CV2	In_Frame_Del	DEL	ENST00000447966.2	37	c.16_18delGAG	CCDS44876.1																																																																																				0.616	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		9	454						9	454	---	---	---	---	-	50452567	GAG	-	50452565	7	5	87	1	0	1	0	1	0	0	0	0	129	1059	37	0	18	0	ACCN2	12	50452565	In_Frame_Del	DEL	GAG	TCGA-IB-A5ST-01A-11D-A32N-08	1287953	50452565	83399330	90	33111											
GTSF1	121355	broad.mit.edu	37	chr12	54858949	54858949	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctcagggtccagggagtCggctgaaagacagaagtgtt	14	8	1	3	rs199823357	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:54858949C>T	ENST00000552397.1	-	3	915	c.19G>A	c.(19-21)Gac>Aac	p.D7N	GTSF1_ENST00000552395.1_Intron|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	7						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCCAGGGAGTCGGCTGAAAGA	0.428													C|||	5	0.000998403	0.003	0.0014	5008	,	,		14400	0.0		0.0	False		,,,				2504	0.0					ENST00000552397.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(19-21)Gac>Aac		gametocyte specific factor 1		C	ASN/ASP	1,4405		0,1,2202	110	103	106		19	5.6	1	12		106	0,8600		0,0,4300	yes	missense	GTSF1	NM_144594.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	7/168	54858949	1,13005	2203	4300	6503	SO:0001583	missense	121355						metal ion binding	g.chr12:54858949C>T	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"family with sequence similarity 112, member B"	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.19G>A	12.37:g.54858949C>T	ENSP00000446485:p.Asp7Asn					GTSF1_ENST00000552395.1_Intron|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.D7N			Q8WW33	GTSF1_HUMAN			3	915	-		Myeloproliferative disorder(1001;0.00452)	7					B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	ENST00000552397.1	37	c.19G>A	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672837	0.88445	2.27E-4	0.0	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.54071	0.59;0.59	5.57	5.57	0.84162	.	0.152500	0.56097	D	0.000021	T	0.59878	0.2226	M	0.68952	2.095	0.47621	D	0.999471	D	0.63046	0.992	P	0.48454	0.578	T	0.59451	-0.7452	10	0.37606	T	0.19	-22.3962	17.4106	0.87484	0.0:1.0:0.0:0.0	.	7	Q8WW33	GTSF1_HUMAN	N	7	ENSP00000446485:D7N;ENSP00000304185:D7N	ENSP00000304185:D7N	D	-	1	0	GTSF1	53145216	0.979000	0.34478	0.999000	0.59377	0.916000	0.54674	2.429000	0.44758	2.785000	0.95823	0.655000	0.94253	GAC		0.428	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	NM_144594		8	273	0	0	0	1	0	8	273					T	54858949	C	T	54858949	3	4	87	1	0	0	0	0	1	0	0	0	6916	884	31	1	508	1	GTSF1	12	54858949	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	4406384	54858949	78992946	91	33112											
C12orf74	338809	broad.mit.edu	37	chr12	93100538	93100538	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccggcaagccccaggccGcatctccacctcgcccactt	8	20	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:93100538G>A	ENST00000397833.3	+	2	582	c.131G>A	c.(130-132)cGc>cAc	p.R44H	C12orf74_ENST00000544406.2_Missense_Mutation_p.R44H	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	44										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCCCAGGCCGCATCTCCACC	0.642																																						ENST00000544406.2																			0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(130-132)cGc>cAc		chromosome 12 open reading frame 74							41	43	43					12																	93100538		1915	4120	6035	SO:0001583	missense	338809							g.chr12:93100538G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.131G>A	12.37:g.93100538G>A	ENSP00000380933:p.Arg44His					C12orf74_ENST00000397833.3_Missense_Mutation_p.R44H	p.R44H			Q32Q52	CL074_HUMAN			2	397	+			44					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.131G>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903105	0.33628	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	4.08	0.47627	.	.	.	.	.	T	0.24084	0.0583	N	0.24115	0.695	0.18873	N	0.999983	P;P	0.43938	0.822;0.822	B;B	0.37943	0.261;0.261	T	0.06991	-1.0796	8	0.59425	D	0.04	-16.0586	9.522	0.39140	0.0971:0.0:0.9029:0.0	.	44;44	F5H4P0;Q32Q52	.;CL074_HUMAN	H	44	.	ENSP00000380933:R44H	R	+	2	0	C12orf74	91624669	0.014000	0.17966	0.083000	0.20561	0.338000	0.28826	1.061000	0.30542	1.295000	0.44724	0.462000	0.41574	CGC		0.642	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	NM_001037671		5	389	0	0	0	1	0	5	389					A	93100538	G	A	93100538	3	1	87	1	0	0	0	0	1	0	0	0	1719	1087	38	1	133	1	C12orf74	12	93100538	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	38241589	93100538	40751357	92	33113											
CUX2	23316	broad.mit.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-													cctccgtgtcgccctcgctgTcctcctcctcctcctctggc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	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																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2422-2424)del		cut-like homeobox 2				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	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758235_111758237delTCC	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						p.S813del	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2576_2578	+			813			Poly-Ser.		A7E2Y4	In_Frame_Del	DEL	ENST00000261726.6	37	c.2422_2424delTCC	CCDS41837.1																																																																																				0.749	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		7	357						7	357	---	---	---	---	-	111758237	TCC	-	111758235	7	5	87	1	0	1	0	1	0	0	0	0	4076	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-IB-A5ST-01A-11D-A32N-08	18657697	111758235	22093660	93	33114											
CCDC92	80212	broad.mit.edu	37	chr12	124421800	124421800	+	Frame_Shift_Del	DEL	G	G	-													ccgcttcggtcggaggcgatGggggggatgacgaggggcct					rs147939560		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:124421800delG	ENST00000238156.3	-	5	1155	c.801delC	c.(799-801)cccfs	p.P267fs	CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Frame_Shift_Del_p.P250fs|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Frame_Shift_Del_p.P250fs	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	267						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CGGAGGCGATGGGGGGGATGA	0.682																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(748-750)ccfs		coiled-coil domain containing 92							24	29	28					12																	124421800		2200	4298	6498	SO:0001589	frameshift_variant	80212							g.chr12:124421800delG	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.801delC	12.37:g.124421800delG	ENSP00000238156:p.Pro267fs					CCDC92_ENST00000238156.3_Frame_Shift_Del_p.P267fs|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Frame_Shift_Del_p.P250fs	p.P250fs			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	4046	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		267					B3KNQ0|Q9H697	Frame_Shift_Del	DEL	ENST00000238156.3	37	c.750delC	CCDS9256.1																																																																																				0.682	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		7	426						7	426	---	---	---	---	-	124421800	G	-	124421800	7	5	87	1	0	1	0	1	0	0	0	0	2878	1335	47	0	198	0	CCDC92	12	124421800	Frame_Shift_Del	DEL	G	TCGA-IB-A5ST-01A-11D-A32N-08	12663565	124421800	9430095	94	33115											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	12	12	1	1	rs533073686	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228	202	211					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		6	851	0	0	0	1	0	6	851					C	125397652	T	C	125397652	2	2	87	1	0	0	0	0	0	0	0	1	16896	1625	57	4		4	UBC	12	125397652	Silent	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	975852	125397652	8454243	95	33116											
DCLK1	9201	broad.mit.edu	37	chr13	36445384	36445384	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggaggcaggggacTtgctacgcctggacggtcct	17	10	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:36445384T>G	ENST00000360631.3	-	5	1128	c.917A>C	c.(916-918)aAg>aCg	p.K306T	DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000255448.4_Missense_Mutation_p.K306T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	306	Pro/Ser-rich.				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)		GGCAGGGGACTTGCTACGCCT	0.532																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(916-918)aAg>aCg		doublecortin-like kinase 1							198	187	191					13																	36445384		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36445384T>G	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.917A>C	13.37:g.36445384T>G	ENSP00000353846:p.Lys306Thr					DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000360631.3_Missense_Mutation_p.K306T	p.K306T	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	5	1128	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	306			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.917A>C		.	.	.	.	.	.	.	.	.	.	T	21.3	4.125614	0.77436	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.68765	-0.35;-0.35;1.65	5.28	5.28	0.74379	.	0.112949	0.64402	D	0.000015	T	0.80894	0.4711	M	0.75777	2.31	0.53688	D	0.999973	D	0.76494	0.999	D	0.72982	0.979	T	0.82244	-0.0553	10	0.51188	T	0.08	.	15.5029	0.75713	0.0:0.0:0.0:1.0	.	306	O15075-2	.	T	306	ENSP00000255448:K306T;ENSP00000353846:K306T;ENSP00000369222:K306T	ENSP00000255448:K306T	K	-	2	0	DCLK1	35343384	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.611000	0.67674	2.115000	0.64714	0.533000	0.62120	AAG		0.532	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		6	556	0	0	0	1	0	6	556					G	36445384	T	G	36445384	3	3	87	1	0	0	0	0	1	0	0	0	4302	1609	56	4	1328	4	DCLK1	13	36445384	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08		36445384	78724494	96	33117											
C13orf18	80183	broad.mit.edu	37	chr13	46946277	46946277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggggagaagcgctgccaaCggagtctgtggtatcctcag	15	9	2	1	rs539575830		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:46946277C>T	ENST00000429979.1	-	3	938	c.334G>A	c.(334-336)Gtt>Att	p.V112I	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V112I|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V45I|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000534925.1_5'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	112	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GCGCTGCCAACGGAGTCTGTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		21621	0.0		0.0	False		,,,				2504	0.001					ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(334-336)Gtt>Att		KIAA0226-like							90	87	88					13																	46946277		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946277C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.334G>A	13.37:g.46946277C>T	ENSP00000396935:p.Val112Ile					KIAA0226L_ENST00000378787.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V45I|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.V112I|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000409879.2_Intron	p.V112I	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			3	938	-			112			Ser-rich.		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.334G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529169	0.13127	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T;T	0.44482	0.93;0.95;0.93;0.95;0.95;0.93;0.92	5.04	-10.1	0.00402	.	2.645840	0.00956	N	0.003022	T	0.12178	0.0296	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.0;0.0;0.017	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.16928	-1.0386	10	0.05620	T	0.96	2.5859	6.7654	0.23564	0.1041:0.5403:0.2256:0.13	.	112;112;112;45;112	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	I	112;112;112;45;112;112;112	ENSP00000368057:V112I;ENSP00000396935:V112I;ENSP00000368074:V112I;ENSP00000368061:V45I;ENSP00000374558:V112I;ENSP00000368064:V112I;ENSP00000414579:V112I	ENSP00000368057:V112I	V	-	1	0	KIAA0226L	45844278	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.930000	0.01557	-2.358000	0.00611	-1.306000	0.01317	GTT		0.567	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		11	311	0	0	0	1	0	11	311					T	46946277	C	T	46946277	3	4	87	1	0	0	0	0	1	0	0	0	1725	536	19	1	1706	1	C13orf18	13	46946277	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	10500893	46946277	68223601	97	33118											
FAM155A	728215	broad.mit.edu	37	chr13	108518385	108518385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctggcgcacaccgcgtccGcattctccaccgtgaagcac	9	18	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:108518385G>A	ENST00000375915.2	-	1	698	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	187						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						CACCGCGTCCGCATTCTCCAC	0.652																																						ENST00000375915.2																			0				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						c.(559-561)gCg>gTg		family with sequence similarity 155, member A							42	51	48					13																	108518385		2201	4296	6497	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518385G>A	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.560C>T	13.37:g.108518385G>A	ENSP00000365080:p.Ala187Val						p.A187V	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	698	-			187					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.560C>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734242	0.48939	.	.	ENSG00000204442	ENST00000375915	T	0.11169	2.8	5.89	5.04	0.67666	.	0.189112	0.43919	D	0.000518	T	0.16981	0.0408	L	0.29908	0.895	0.44085	D	0.996848	D	0.71674	0.998	P	0.54346	0.749	T	0.01146	-1.1437	10	0.62326	D	0.03	.	15.5308	0.75960	0.0:0.0:0.8609:0.1391	.	187	B1AL88	F155A_HUMAN	V	187	ENSP00000365080:A187V	ENSP00000365080:A187V	A	-	2	0	FAM155A	107316386	1.000000	0.71417	0.980000	0.43619	0.004000	0.04260	9.147000	0.94646	1.479000	0.48272	-0.314000	0.08810	GCG		0.652	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	669	0	0	0	1	0	7	669					A	108518385	G	A	108518385	3	1	87	1	0	0	0	0	1	0	0	0	5486	1087	38	1	828	1	FAM155A	13	108518385	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	61572108	108518385	6651493	98	33119											
AHNAK2	113146	broad.mit.edu	37	chr14	105417866	105417866	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtccccgtccagctgtgCgccatccaacttggctcccg	10	18	0	0	rs532275274		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:105417866C>T	ENST00000333244.5	-	7	4041	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1308						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)			TCCAGCTGTGCGCCATCCAAC	0.597													.|||	1	0.000199681	0.0	0.0	5008	,	,		14816	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3922-3924)Gca>Aca		AHNAK nucleoprotein 2							102	88	94					14																	105417866		1927	3274	5201	SO:0001583	missense	113146					nucleus		g.chr14:105417866C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3922G>A	14.37:g.105417866C>T	ENSP00000353114:p.Ala1308Thr					AHNAK2_ENST00000557457.1_Intron	p.A1308T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4041	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1308					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3922G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.821	0.937460	0.18206	.	.	ENSG00000185567	ENST00000333244	T	0.00651	5.97	3.18	-4.1	0.03940	.	.	.	.	.	T	0.00468	0.0015	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.42732	-0.9434	9	0.14656	T	0.56	.	5.2254	0.15391	0.0:0.2637:0.2749:0.4614	.	1308	Q8IVF2	AHNK2_HUMAN	T	1308	ENSP00000353114:A1308T	ENSP00000353114:A1308T	A	-	1	0	AHNAK2	104488911	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	0.800000	0.27042	-2.064000	0.00888	-2.658000	0.00147	GCA		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	958	0	0	0	1	0	6	958					T	105417866	C	T	105417866	3	4	87	1	0	0	0	0	1	0	0	0	415	768	27	1	13469	1	AHNAK2	14	105417866	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		105417866	1931674	99	33120											
DUOX1	53905	broad.mit.edu	37	chr15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtccttgaacaatttgtgCggctacgggatggtgaccgc	13	10	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W|DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAATTTGTGCGGCTACGGGA	0.622																																						ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1519-1521)Cgg>Tgg		dual oxidase 1							116	110	112					15																	45433222		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433222C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1519C>T	15.37:g.45433222C>T	ENSP00000317997:p.Arg507Trp					DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W	p.R507W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	14	1926	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	507			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.1519C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373255	0.61624	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73469	-0.75;-0.75	4.46	2.46	0.29980	.	0.000000	0.85682	D	0.000000	D	0.88731	0.6516	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89483	0.3751	10	0.87932	D	0	-18.5535	10.9307	0.47215	0.3523:0.6477:0.0:0.0	.	507	Q9NRD9	DUOX1_HUMAN	W	507	ENSP00000317997:R507W;ENSP00000373689:R507W	ENSP00000317997:R507W	R	+	1	2	DUOX1	43220514	1.000000	0.71417	0.975000	0.42487	0.305000	0.27757	3.071000	0.50041	0.545000	0.28902	0.650000	0.86243	CGG		0.622	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		6	651	0	0	0	1	0	6	651					T	45433222	C	T	45433222	3	4	87	1	0	0	0	0	1	0	0	0	4816	759	27	1	1565	1	DUOX1	15	45433222	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		45433222	57098170	100	33121											
C15orf48	84419	broad.mit.edu	37	chr15	45724278	45724279	+	Frame_Shift_Ins	INS	-	-	A													tttaattttagccttgatcgINSaaaaaaaaatccagaacctt					rs557217388		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:45724278_45724279insA	ENST00000344300.3	+	3	321_322	c.131_132insA	c.(130-135)cgaaaafs	p.RK44fs	C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.RK44fs|MIR147B_ENST00000390185.1_RNA|RP11-519G16.5_ENST00000559553.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	44						mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		AGCCTTGATCGAAAAAAAAATC	0.322																																						ENST00000344300.3																			0				large_intestine(1)|lung(2)|ovary(1)	4						c.(130-132)caafs		chromosome 15 open reading frame 48			,	5,4259		0,5,2127					,	5.4	1			110	6,8248		0,6,4121	no	frameshift,frameshift	C15orf48	NM_197955.1,NM_032413.2	,	0,11,6248	A1A1,A1R,RR		0.0727,0.1173,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	84419					nucleus		g.chr15:45724278_45724279insA		CCDS10124.1	15q21.1	2014-05-29			ENSG00000166920	ENSG00000166920			29898	protein-coding gene	gene with protein product	"normal mucosa of esophagus specific 1"	608409				12209954	Standard	NM_032413		Approved	NMES1	uc001zvh.4	Q9C002	OTTHUMG00000131424	ENST00000344300.3:c.140dupA	15.37:g.45724287_45724287dupA	ENSP00000341610:p.Arg44fs					RP11-519G16.5_ENST00000559553.1_RNA|C15orf48_ENST00000396650.2_Frame_Shift_Ins_p.Q44fs	p.Q44fs	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)	3	321_322	+		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	44						Frame_Shift_Ins	INS	ENST00000344300.3	37	c.131_132insA	CCDS10124.1																																																																																				0.322	C15orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254217.2	NM_032413		8	154						8	154	---	---	---	---	A	45724279	-	A	45724278	7	5	87	1	0	1	1	0	0	0	0	0	1804	1058	37	0	141	0	C15orf48	15	45724278	Frame_Shift_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	291056	45724278	56807114	101	33122											
TLN2	83660	broad.mit.edu	37	chr15	63053934	63053934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataagtgtcgcatcgccaccGcacccttgattgaagctgtg	10	12	0	2	rs143603462		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:63053934G>A	ENST00000561311.1	+	37	4923	c.4693G>A	c.(4693-4695)Gca>Aca	p.A1565T	TLN2_ENST00000472902.1_5'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.A1565T			Q9Y4G6	TLN2_HUMAN	talin 2	1565					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						CATCGCCACCGCACCCTTGAT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20035	0.0		0.001	False		,,,				2504	0.0					ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(4693-4695)Gca>Aca		talin 2		G	THR/ALA	0,4406		0,0,2203	175	152	160		4693	3.5	0.2	15	dbSNP_134	160	2,8598	2.2+/-6.3	0,2,4298	no	missense	TLN2	NM_015059.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1565/2543	63053934	2,13004	2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63053934G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4693G>A	15.37:g.63053934G>A	ENSP00000453508:p.Ala1565Thr					TLN2_ENST00000306829.6_Missense_Mutation_p.A1565T|TLN2_ENST00000472902.1_5'UTR	p.A1565T			Q9Y4G6	TLN2_HUMAN			37	4923	+			1565					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4693G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	4.423	0.078267	0.08485	0.0	2.33E-4	ENSG00000171914	ENST00000306829	T	0.68624	-0.34	5.41	3.52	0.40303	.	0.314633	0.39274	N	0.001410	T	0.47229	0.1434	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23404	-1.0189	10	0.15499	T	0.54	-9.4852	6.1601	0.20360	0.1566:0.0:0.6934:0.15	.	1565	Q9Y4G6	TLN2_HUMAN	T	1565	ENSP00000303476:A1565T	ENSP00000303476:A1565T	A	+	1	0	TLN2	60841226	0.609000	0.26975	0.181000	0.23098	0.039000	0.13416	1.968000	0.40500	0.641000	0.30601	0.563000	0.77884	GCA		0.522	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			6	601	0	0	0	1	0	6	601					A	63053934	G	A	63053934	3	1	87	1	0	0	0	0	1	0	0	0	16000	1087	38	1	4831	1	TLN2	15	63053934	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	17329656	63053934	39477458	102	33123											
CSPG4	1464	broad.mit.edu	37	chr15	75968972	75968972	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacccggagctgctgcTggctcagtgaggagcgcccc	13	15	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:75968972T>A	ENST00000308508.5	-	10	5980	c.5888A>T	c.(5887-5889)cAg>cTg	p.Q1963L	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1963	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						GAGCTGCTGCTGGCTCAGTGA	0.672																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(5887-5889)cAg>cTg		chondroitin sulfate proteoglycan 4							38	48	45					15																	75968972		2196	4294	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968972T>A	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.5888A>T	15.37:g.75968972T>A	ENSP00000312506:p.Gln1963Leu					CTD-2026K11.1_ENST00000569467.1_RNA	p.Q1963L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			10	5980	-			1963			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5888A>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399616	0.25291	.	.	ENSG00000173546	ENST00000308508	T	0.18016	2.24	5.15	-6.2	0.02072	.	0.815436	0.10720	N	0.641890	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.33214	-0.9877	10	0.25751	T	0.34	.	8.6049	0.33767	0.0:0.2126:0.3399:0.4475	.	1963	Q6UVK1	CSPG4_HUMAN	L	1963	ENSP00000312506:Q1963L	ENSP00000312506:Q1963L	Q	-	2	0	CSPG4	73756027	0.037000	0.19845	0.433000	0.26760	0.950000	0.60333	0.260000	0.18424	-1.050000	0.03230	-0.337000	0.08149	CAG		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		18	493	0	0	0	1	0	18	493					A	75968972	T	A	75968972	3	1	87	1	0	0	0	0	1	0	0	0	3971	1580	55	5	1084	5	CSPG4	15	75968972	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	12915038	75968972	26562420	103	33124											
ANKS4B	257629	broad.mit.edu	37	chr16	21261762	21261762	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agacatctcagatagcaagaGagagtttggttttaaactgc	10	6	1	4			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:21261762G>C	ENST00000311620.5	+	2	948	c.875G>C	c.(874-876)aGa>aCa	p.R292T		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	292					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GATAGCAAGAGAGAGTTTGGT	0.458																																						ENST00000311620.5																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(874-876)aGa>aCa		ankyrin repeat and sterile alpha motif domain containing 4B							96	101	100					16																	21261762		1996	4175	6171	SO:0001583	missense	257629							g.chr16:21261762G>C	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.875G>C	16.37:g.21261762G>C	ENSP00000308772:p.Arg292Thr						p.R292T	NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	948	+			292						Missense_Mutation	SNP	ENST00000311620.5	37	c.875G>C	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	4.587	0.108980	0.08780	.	.	ENSG00000175311	ENST00000311620	T	0.44881	0.91	5.77	4.8	0.61643	.	0.168743	0.53938	N	0.000044	T	0.44932	0.1317	M	0.70595	2.14	0.41181	D	0.986238	B	0.02656	0.0	B	0.04013	0.001	T	0.44236	-0.9341	10	0.59425	D	0.04	-10.1277	14.5212	0.67851	0.0:0.1479:0.8521:0.0	.	292	Q8N8V4	ANS4B_HUMAN	T	292	ENSP00000308772:R292T	ENSP00000308772:R292T	R	+	2	0	ANKS4B	21169263	0.614000	0.27017	0.963000	0.40424	0.060000	0.15804	1.431000	0.34925	1.416000	0.47057	-0.282000	0.10007	AGA		0.458	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		4	154	0	0	0	1	0	4	154					C	21261762	G	C	21261762	3	2	87	1	0	0	0	0	1	0	0	0	691	942	33	5	881	5	ANKS4B	16	21261762	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		21261762	69092991	104	33125											
ITGAD	3681	broad.mit.edu	37	chr16	31434506	31434506	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatgaaagaggctgagcatcGataccgtgtgagagtctagg	14	6	1	4			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:31434506G>A	ENST00000389202.2	+	24	2901	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	951					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)	p.R951Q(1)		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						GCTGAGCATCGATACCGTGTG	0.498																																						ENST00000389202.2																			1	Substitution - Missense(1)	p.R951Q(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2851-2853)cGa>cAa		integrin, alpha D							78	67	71					16																	31434506		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434506G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2852G>A	16.37:g.31434506G>A	ENSP00000373854:p.Arg951Gln						p.R951Q	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			24	2901	+			951					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2852G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331575	0.24167	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44482	0.92	5.59	1.43	0.22495	Integrin alpha-2 (1);	.	.	.	.	T	0.20251	0.0487	L	0.28400	0.85	0.09310	N	1	P;P	0.47034	0.889;0.889	B;B	0.28638	0.092;0.092	T	0.09443	-1.0674	9	0.20046	T	0.44	.	7.3842	0.26872	0.3411:0.0:0.6589:0.0	.	967;951	Q59H14;Q13349	.;ITAD_HUMAN	Q	967;951	ENSP00000373854:R951Q	ENSP00000373854:R951Q	R	+	2	0	ITGAD	31342007	0.000000	0.05858	0.003000	0.11579	0.453000	0.32348	-0.053000	0.11846	0.704000	0.31869	0.650000	0.86243	CGA		0.498	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		5	215	0	0	0	1	0	5	215					A	31434506	G	A	31434506	3	1	87	1	0	0	0	0	1	0	0	0	7914	1058	37	1	2946	1	ITGAD	16	31434506	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	10172744	31434506	58920247	105	33126											
LPCAT2	54947	broad.mit.edu	37	chr16	55579653	55579653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatttgtctttcagtttatgCcagttcaagtaccaaatgat	6	7	3	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:55579653C>T	ENST00000262134.5	+	9	1043	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	287					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCAGTTTATGCCAGTTCAAGT	0.289																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(859-861)Cca>Tca		lysophosphatidylcholine acyltransferase 2							95	95	95					16																	55579653		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55579653C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.859C>T	16.37:g.55579653C>T	ENSP00000262134:p.Pro287Ser						p.P287S	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			9	1043	+			287					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.859C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935213	0.92458	.	.	ENSG00000087253	ENST00000262134	D	0.93906	-3.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.93898	3.47	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	D	0.97520	1.0072	10	0.87932	D	0	-16.5825	20.1358	0.98028	0.0:1.0:0.0:0.0	.	287	Q7L5N7	PCAT2_HUMAN	S	287	ENSP00000262134:P287S	ENSP00000262134:P287S	P	+	1	0	LPCAT2	54137154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.876000	0.63079	2.865000	0.98341	0.655000	0.94253	CCA		0.289	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		5	363	0	0	0	1	0	5	363					T	55579653	C	T	55579653	3	4	87	1	0	0	0	0	1	0	0	0	8949	739	26	2	893	2	LPCAT2	16	55579653	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	24145147	55579653	34775100	106	33127											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	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.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	396						8	396	---	---	---	---	-	67913769	CAG	-	67913767	7	5	87	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-IB-A5ST-01A-11D-A32N-08	12334114	67913767	22440986	107	33128											
ABR	29	broad.mit.edu	37	chr17	1028559	1028559	+	Frame_Shift_Del	DEL	C	C	-													tggagtcggggagacgccatCccccccgccctggctgcggg							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:1028559delC	ENST00000302538.5	-	2	351	c.205delG	c.(205-207)gatfs	p.D69fs	ABR_ENST00000544583.2_Frame_Shift_Del_p.D23fs|ABR_ENST00000574437.1_Frame_Shift_Del_p.D23fs	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	69					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GAGACGCCATCCCCCCCGCCC	0.677																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(67-69)atfs		active BCR-related							66	66	66					17																	1028559		2202	4300	6502	SO:0001589	frameshift_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028559delC	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.205delG	17.37:g.1028559delC	ENSP00000303909:p.Asp69fs					ABR_ENST00000302538.5_Frame_Shift_Del_p.D69fs|ABR_ENST00000574437.1_Frame_Shift_Del_p.D23fs	p.D23fs	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	666	-			69					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Frame_Shift_Del	DEL	ENST00000302538.5	37	c.67delG	CCDS10999.1																																																																																				0.677	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			7	615						7	615	---	---	---	---	-	1028559	C	-	1028559	7	5	87	1	0	1	0	1	0	0	0	0	99	855	30	0	2601	0	ABR	17	1028559	Frame_Shift_Del	DEL	C	TCGA-IB-A5ST-01A-11D-A32N-08		1028559	80166651	108	33129											
MYBBP1A	10514	broad.mit.edu	37	chr17	4453441	4453441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggagaaacatggcccGcagccaggccacatagccct	12	14	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4453441G>A	ENST00000254718.4	-	9	1537	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	411	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACATGGCCCGCAGCCAGGCC	0.597																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1231-1233)Cgg>Tgg		MYB binding protein (P160) 1a							68	77	74					17																	4453441		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4453441G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1231C>T	17.37:g.4453441G>A	ENSP00000254718:p.Arg411Trp					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W	p.R411W			Q9BQG0	MBB1A_HUMAN			9	1537	-			411			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1231C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462466	0.43736	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.52057	0.68;0.68	5.06	5.06	0.68205	Armadillo-type fold (1);	0.730054	0.13638	N	0.373192	T	0.52549	0.1741	L	0.51422	1.61	0.25166	N	0.990316	D;D	0.60160	0.987;0.984	P;P	0.52909	0.713;0.59	T	0.44559	-0.9320	10	0.41790	T	0.15	-17.3908	10.9319	0.47222	0.0:0.0:0.8133:0.1867	.	411;411	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	W	411	ENSP00000370968:R411W;ENSP00000254718:R411W	ENSP00000254718:R411W	R	-	1	2	MYBBP1A	4400190	0.867000	0.29959	0.946000	0.38457	0.017000	0.09413	4.116000	0.57871	2.642000	0.89623	0.655000	0.94253	CGG		0.597	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		6	335	0	0	0	1	0	6	335					A	4453441	G	A	4453441	3	1	87	1	0	0	0	0	1	0	0	0	10049	1086	38	1	2867	1	MYBBP1A	17	4453441	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	3424882	4453441	76741769	109	33130											
ENO3	2027	broad.mit.edu	37	chr17	4857048	4857048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgggcgtgtccttggccGtgtgtaaggcgggagcagct	17	10	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4857048G>A	ENST00000323997.6	+	6	484	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	ENO3_ENST00000518175.1_Missense_Mutation_p.V118M|ENO3_ENST00000519584.1_Missense_Mutation_p.V75M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	118					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GTCCTTGGCCGTGTGTAAGGC	0.612																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(352-354)Gtg>Atg		enolase 3 (beta, muscle)							116	107	110					17																	4857048		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4857048G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"enolase 3, (beta, muscle)"				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.352G>A	17.37:g.4857048G>A	ENSP00000324105:p.Val118Met					ENO3_ENST00000518175.1_Missense_Mutation_p.V118M|ENO3_ENST00000519584.1_Missense_Mutation_p.V75M	p.V118M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			6	484	+			118					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.352G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494137	0.96339	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	T;T;T;T;T;T	0.57107	1.32;1.32;1.32;1.32;0.42;1.32	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	H	0.95645	3.7	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.995	D;D;D	0.69824	0.939;0.966;0.966	D	0.86144	0.1583	10	0.87932	D	0	-17.3188	17.3501	0.87321	0.0:0.0:1.0:0.0	.	75;25;118	P13929-3;D3DTL4;D3DTL2	.;.;.	M	118;118;118;118;75;118	ENSP00000428502:V118M;ENSP00000430055:V118M;ENSP00000324105:V118M;ENSP00000428811:V118M;ENSP00000430636:V75M;ENSP00000431087:V118M	ENSP00000324105:V118M	V	+	1	0	ENO3	4797794	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.950000	0.87804	2.767000	0.95098	0.655000	0.94253	GTG		0.612	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			6	651	0	0	0	1	0	6	651					A	4857048	G	A	4857048	3	1	87	1	0	0	0	0	1	0	0	0	5141	1145	40	1	370	1	ENO3	17	4857048	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	403607	4857048	76338162	110	33131											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	313	0	0	0	1	0	11	313					A	7577539	G	A	7577539	3	1	87	1	0	0	0	0	1	0	0	0	16434	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	2720491	7577539	73617671	111	33132											
DNAH2	146754	broad.mit.edu	37	chr17	7644311	7644311	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcgacagagtcatgaccGtaagtgcctggccttctcca	10	13	2	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7644311G>A	ENST00000572933.1	+	11	3149		c.e11+1		DNAH2_ENST00000570791.1_Splice_Site|DNAH2_ENST00000082259.3_Splice_Site|DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						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)				AGTCATGACCGTAAGTGCCTG	0.592																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.e11+1		dynein, axonemal, heavy chain 2							59	56	57					17																	7644311		2203	4300	6503	SO:0001630	splice_region_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7644311G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1689+1G>A	17.37:g.7644311G>A						DNAH2_ENST00000570791.1_Splice_Site|DNAH2_ENST00000389173.2_Splice_Site|DNAH2_ENST00000082259.3_Splice_Site				Q9P225	DYH2_HUMAN			11	3149	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)						A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	ENST00000572933.1	37		CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008944	0.35415	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5708	0.87933	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH2	7585036	1.000000	0.71417	0.242000	0.24170	0.153000	0.21895	7.488000	0.81441	2.461000	0.83175	0.557000	0.71058	.		0.592	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	Intron	5	323	0	0	0	1	0	5	323					A	7644311	G	A	7644311	5	1	87	1	0	0	0	0	0	0	1	0	4618	1159	40	1	1728	1	DNAH2	17	7644311	Splice_Site	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	66772	7644311	73550899	112	33133											
MAP2K3	5606	broad.mit.edu	37	chr17	21204188	21204188	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcagtccttccctgcagcgGatccgggccaccgtgaactc	12	16	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204188G>A	ENST00000342679.4	+	5	531	c.282G>A	c.(280-282)cgG>cgA	p.R94R	MAP2K3_ENST00000316920.6_Silent_p.R65R|MAP2K3_ENST00000361818.5_Silent_p.R65R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (in dbSNP:rs56067280). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|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)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCCTGCAGCGGATCCGGGCCA	0.612																																						ENST00000342679.4																			0											c.(280-282)cgG>cgA		mitogen-activated protein kinase kinase 3							97	81	86					17																	21204188		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21204188G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.282G>A	17.37:g.21204188G>A						MAP2K3_ENST00000316920.6_Silent_p.R65R|MAP2K3_ENST00000361818.5_Silent_p.R65R	p.R94R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	531	+			94		R -> L (in dbSNP:rs56067280).	Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.282G>A	CCDS11217.1																																																																																				0.612	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		6	345	0	0	0	1	0	6	345					A	21204188	G	A	21204188	2	1	87	1	0	0	0	0	0	0	0	1	9279	1161	41	2		2	MAP2K3	17	21204188	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	13559877	21204188	59991022	113	33134											
MAP2K3	5606	broad.mit.edu	37	chr17	21204218	21204218	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgtgaactcacaggagcaGaagcggctgctcatggacct	12	12	2	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204218G>A	ENST00000342679.4	+	5	561	c.312G>A	c.(310-312)caG>caA	p.Q104Q	MAP2K3_ENST00000316920.6_Silent_p.Q75Q|MAP2K3_ENST00000361818.5_Silent_p.Q75Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|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)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CACAGGAGCAGAAGCGGCTGC	0.587																																						ENST00000342679.4																			0											c.(310-312)caG>caA		mitogen-activated protein kinase kinase 3							125	102	110					17																	21204218		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21204218G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"Mitogen-activated protein kinase cascade / Kinase kinases"	6843	protein-coding gene	gene with protein product	"MAPK/ERK kinase 3", "MAP kinase kinase 3", "dual specificity mitogen activated protein kinase kinase 3"	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.312G>A	17.37:g.21204218G>A						MAP2K3_ENST00000316920.6_Silent_p.Q75Q|MAP2K3_ENST00000361818.5_Silent_p.Q75Q	p.Q104Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	561	+			104			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.312G>A	CCDS11217.1																																																																																				0.587	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		6	441	0	0	0	1	0	6	441					A	21204218	G	A	21204218	2	1	87	1	0	0	0	0	0	0	0	1	9279	933	33	2		2	MAP2K3	17	21204218	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	30	21204218	59990992	114	33135											
STARD3	10948	broad.mit.edu	37	chr17	37819133	37819133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttcacctgcgacagcGcatcagcgagctgggggccc	13	15	2	0	rs35874339		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:37819133G>A	ENST00000336308.5	+	15	1528	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	STARD3_ENST00000580611.1_Missense_Mutation_p.A419T|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|TCAP_ENST00000309889.2_5'Flank|TCAP_ENST00000578283.1_5'Flank|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	437	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				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)			CTGCGACAGCGCATCAGCGAG	0.667																																						ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(1309-1311)cGc>cAc		StAR-related lipid transfer (START) domain containing 3							95	93	94					17																	37819133		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37819133G>A		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.1310G>A	17.37:g.37819133G>A	ENSP00000337446:p.Arg437His					STARD3_ENST00000580611.1_Missense_Mutation_p.A419T|STARD3_ENST00000394250.4_Missense_Mutation_p.R419H|STARD3_ENST00000544210.2_Missense_Mutation_p.R437H	p.R437H	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	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)		15	1528	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		437			START.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.1310G>A	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675964	0.67928	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.79141	-1.24;-1.24;-1.24	5.42	5.42	0.78866	Lipid-binding START (3);START-like domain (1);	0.113059	0.64402	D	0.000020	T	0.71392	0.3334	L	0.43757	1.38	0.40933	D	0.984408	B;B;B;B;B	0.30889	0.187;0.299;0.008;0.123;0.021	B;B;B;B;B	0.25405	0.035;0.06;0.005;0.041;0.017	T	0.68934	-0.5278	10	0.29301	T	0.29	.	18.8211	0.92097	0.0:0.0:1.0:0.0	.	437;202;437;419;437	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	H	437;437;419	ENSP00000337446:R437H;ENSP00000439869:R437H;ENSP00000377794:R419H	ENSP00000337446:R437H	R	+	2	0	STARD3	35072659	1.000000	0.71417	0.969000	0.41365	0.686000	0.39977	7.494000	0.81503	2.544000	0.85801	0.561000	0.74099	CGC		0.667	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			7	705	0	0	0	1	0	7	705					A	37819133	G	A	37819133	3	1	87	1	0	0	0	0	1	0	0	0	15309	1087	38	1	1377	1	STARD3	17	37819133	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	16614915	37819133	43376077	115	33136											
RGS9	8787	broad.mit.edu	37	chr17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaccctcccttttatgCggcgtcacctgcgctccagc	8	19	1	0	rs572338388		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:63206625C>T	ENST00000262406.9	+	17	1376	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	RGS9_ENST00000449996.3_Missense_Mutation_p.R434W|RGS9_ENST00000443584.3_Missense_Mutation_p.R434W	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	437					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17810	0.0		0.0	False		,,,				2504	0.0					ENST00000449996.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						c.(1300-1302)Cgg>Tgg		regulator of G-protein signaling 9							121	125	124					17																	63206625		2081	4207	6288	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63206625C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"Regulators of G-protein signaling"	10004	protein-coding gene	gene with protein product	"regulator of G protein signalling 9", "regulator of G protein signalling 9L", "regulator of G-protein signaling 9L"	604067	"regulator of G-protein signalling 9"			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1309C>T	17.37:g.63206625C>T	ENSP00000262406:p.Arg437Trp					RGS9_ENST00000262406.9_Missense_Mutation_p.R437W|RGS9_ENST00000443584.3_Missense_Mutation_p.R434W	p.R434W	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN			17	1372	+			437					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1300C>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914989	0.33815	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34472	1.36;1.36	5.31	1.97	0.26223	.	0.195954	0.45126	D	0.000391	T	0.52901	0.1763	L	0.59436	1.845	0.36049	D	0.840602	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69654	0.965;0.922;0.964	T	0.63037	-0.6726	10	0.62326	D	0.03	.	14.0681	0.64844	0.4014:0.5986:0.0:0.0	.	437;437;434	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	W	437;434	ENSP00000262406:R437W;ENSP00000396329:R434W	ENSP00000262406:R437W	R	+	1	2	RGS9	60637087	0.997000	0.39634	0.997000	0.53966	0.867000	0.49689	1.611000	0.36879	0.232000	0.21100	0.655000	0.94253	CGG		0.572	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		6	638	0	0	0	1	0	6	638					T	63206625	C	T	63206625	3	4	87	1	0	0	0	0	1	0	0	0	13363	759	27	1	1375	1	RGS9	17	63206625	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	25387492	63206625	17988585	116	33137											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025540	60025540	+	Frame_Shift_Del	DEL	T	T	-													caggctacttctctgatgccTtttcctccacggacaaatgc							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr18:60025540delT	ENST00000586569.1	+	5	525	c.487delT	c.(487-489)tttfs	p.F163fs	TNFRSF11A_ENST00000269485.7_Frame_Shift_Del_p.F163fs	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	163					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CTCTGATGCCTTTTCCTCCAC	0.443																																						ENST00000586569.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(487-489)ttfs		tumor necrosis factor receptor superfamily, member 11a, NFKB activator							141	133	135					18																	60025540		2203	4300	6503	SO:0001589	frameshift_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025540delT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.487delT	18.37:g.60025540delT	ENSP00000465500:p.Phe163fs					TNFRSF11A_ENST00000269485.7_Frame_Shift_Del_p.F163fs	p.F163fs	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN			5	525	+		Colorectal(73;0.188)	163					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Frame_Shift_Del	DEL	ENST00000586569.1	37	c.487delT	CCDS11980.1																																																																																				0.443	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			7	766						7	766	---	---	---	---	-	60025540	T	-	60025540	7	5	87	1	0	1	0	1	0	0	0	0	16336	1609	56	0	505	0	TNFRSF11A	18	60025540	Frame_Shift_Del	DEL	T	TCGA-IB-A5ST-01A-11D-A32N-08		60025540	18051708	117	33138											
ZNF563	147837	broad.mit.edu	37	chr19	12429554	12429554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgagctatgagataacgCtttcccacactgcttgcatt	8	11	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:12429554C>T	ENST00000293725.5	-	4	1490	c.1285G>A	c.(1285-1287)Gcg>Acg	p.A429T		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGCTTTCCCACAC	0.428																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1285-1287)Gcg>Acg		zinc finger protein 563							206	189	195					19																	12429554		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429554C>T	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.1285G>A	19.37:g.12429554C>T	ENSP00000293725:p.Ala429Thr						p.A429T	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1490	-			429					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1285G>A	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839301	0.32513	.	.	ENSG00000188868	ENST00000293725	T	0.13778	2.56	0.688	-0.659	0.11424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	N	0.25380	0.74	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17137	-1.0379	9	0.33940	T	0.23	.	1.7206	0.02911	0.3214:0.414:0.0:0.2647	.	429	Q8TA94	ZN563_HUMAN	T	429	ENSP00000293725:A429T	ENSP00000293725:A429T	A	-	1	0	ZNF563	12290554	0.000000	0.05858	0.007000	0.13788	0.082000	0.17680	-2.352000	0.01091	-0.179000	0.10654	0.306000	0.20318	GCG		0.428	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		7	747	0	0	0	1	0	7	747					T	12429554	C	T	12429554	3	4	87	1	0	0	0	0	1	0	0	0	18047	797	28	2	149	2	ZNF563	19	12429554	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08		12429554	46699429	118	33139											
FFAR3	2865	broad.mit.edu	37	chr19	35850345	35850345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccatcctcctgcccgtgCggctggagatggctgtggtc	14	13	0	1	rs150489647		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:35850345C>T	ENST00000327809.4	+	2	754	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	185					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTGCCCGTGCGGCTGGAGAT	0.622																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4																			0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(553-555)Cgg>Tgg		free fatty acid receptor 3							36	30	32					19																	35850345		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850345C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.553C>T	19.37:g.35850345C>T	ENSP00000328230:p.Arg185Trp					FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	p.R185W	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	754	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		185					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.553C>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255435	0.39896	.	.	ENSG00000185897	ENST00000327809	T	0.37752	1.18	5.13	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.59932	0.2230	M	0.82517	2.595	0.38954	D	0.958414	D	0.89917	1.0	D	0.97110	1.0	T	0.65516	-0.6149	10	0.38643	T	0.18	-24.346	13.0743	0.59079	0.316:0.684:0.0:0.0	.	185	O14843	FFAR3_HUMAN	W	185	ENSP00000328230:R185W	ENSP00000328230:R185W	R	+	1	2	FFAR3	40542185	0.985000	0.35326	0.625000	0.29200	0.069000	0.16628	3.235000	0.51328	1.110000	0.41699	0.455000	0.32223	CGG		0.622	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		6	363	0	0	0	1	0	6	363					T	35850345	C	T	35850345	3	4	87	1	0	0	0	0	1	0	0	0	5854	759	27	1	555	1	FFAR3	19	35850345	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	23420791	35850345	23278638	119	33140											
CEACAM7	1087	broad.mit.edu	37	chr19	42190935	42190935	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctcgaccgttgtgtgcGggccctggggcattttcttg	14	11	2	0	rs145571605	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:42190935G>A	ENST00000006724.3	-	2	483	c.282C>T	c.(280-282)ccC>ccT	p.P94P	CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000338196.4_Silent_p.P94P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	94	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CGTTGTGTGCGGGCCCTGGGG	0.443																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(280-282)ccC>ccT		carcinoembryonic antigen-related cell adhesion molecule 7		G		8,4398	12.9+/-30.5	0,8,2195	175	185	182		282	-3.4	0	19	dbSNP_134	182	0,8600		0,0,4300	no	coding-synonymous	CEACAM7	NM_006890.3		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		94/266	42190935	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42190935G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1819	protein-coding gene	gene with protein product	"carcinoembryonic antigen gene family member 2"			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.282C>T	19.37:g.42190935G>A						CEACAM7_ENST00000338196.4_Silent_p.P94P|CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR	p.P94P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	483	-			94			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.282C>T	CCDS12583.1																																																																																				0.443	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		7	962	0	0	0	1	0	7	962					A	42190935	G	A	42190935	2	1	87	1	0	0	0	0	0	0	0	1	3206	1103	39	1		1	CEACAM7	19	42190935	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	6340590	42190935	16938048	120	33141											
PSG6	5675	broad.mit.edu	37	chr19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtgggttagagtccGcaaagcaggacaagtcgagg	16	9	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185	196	192					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val					PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1					5	1129	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		8	1172	0	0	0	1	0	8	1172					A	43411250	G	A	43411250	3	1	87	1	0	0	0	0	1	0	0	0	12706	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	1220315	43411250	15717733	121	33142											
CCDC8	83987	broad.mit.edu	37	chr19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acctctggtcagctggggccTctgccctctgattatctgca	10	14	5	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1108-1110)gAg>gGg		coiled-coil domain containing 8							123	122	122					19																	46914959		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914959T>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1109A>G	19.37:g.46914959T>C	ENSP00000303158:p.Glu370Gly						p.E370G	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1882	-			370					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1109A>G	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.91|15.91	2.971482|2.971482	0.53614|0.53614	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.16897|.	2.31|.	3.24|3.24	-0.0364|-0.0364	0.13888|0.13888	.|.	0.000000|.	0.36740|.	N|.	0.002439|.	T|T	0.50888|0.50888	0.1642|0.1642	M|M	0.72894|0.72894	2.215|2.215	0.31196|0.31196	N|N	0.700308|0.700308	B|.	0.27910|.	0.193|.	B|.	0.24701|.	0.055|.	T|T	0.55023|0.55023	-0.8205|-0.8205	10|5	0.54805|.	T|.	0.06|.	-17.6206|-17.6206	6.7923|6.7923	0.23707|0.23707	0.0:0.3385:0.0:0.6615|0.0:0.3385:0.0:0.6615	.|.	370|.	Q9H0W5|.	CCDC8_HUMAN|.	G|G	370|217	ENSP00000303158:E370G|.	ENSP00000303158:E370G|.	E|R	-|-	2|1	0|2	CCDC8|CCDC8	51606799|51606799	0.001000|0.001000	0.12720|0.12720	0.017000|0.017000	0.16124|0.16124	0.019000|0.019000	0.09904|0.09904	0.551000|0.551000	0.23361|0.23361	-0.081000|-0.081000	0.12662|0.12662	0.260000|0.260000	0.18958|0.18958	GAG|AGG		0.607	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		11	1145	0	0	0	1	0	11	1145					C	46914959	T	C	46914959	3	2	87	1	0	0	0	0	1	0	0	0	2860	1551	54	4	511	4	CCDC8	19	46914959	Missense_Mutation	SNP	T	TCGA-IB-A5ST-01A-11D-A32N-08	3503709	46914959	12214024	122	33143											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341591	55341591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaggaggtgacatacgCacagttggatcactgcgttt	12	10	1	2	rs200600822	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:55341591C>T	ENST00000391728.4	+	9	1229	c.1196C>T	c.(1195-1197)gCa>gTa	p.A399V	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V|KIR2DS4_ENST00000339924.8_RNA	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	399					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)		GTGACATACGCACAGTTGGAT	0.517																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1195-1197)gCa>gTa		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							264	240	248					19																	55341591		2172	4170	6342	SO:0001583	missense	3811							g.chr19:55341591C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1196C>T	19.37:g.55341591C>T	ENSP00000375608:p.Ala399Val					KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V	p.A399V	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	9	1229	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1196C>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	7.992	0.753548	0.15778	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00518	7.09;6.86;7.09;6.86;7.04	0.719	0.719	0.18208	.	.	.	.	.	T	0.00784	0.0026	M	0.88640	2.97	0.09310	N	1	B;B;B	0.28470	0.213;0.001;0.019	B;B;B	0.27170	0.077;0.008;0.022	T	0.28902	-1.0029	8	0.87932	D	0	.	.	.	.	.	382;304;399	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	V	399;382;377;399;382;304	ENSP00000443350:A399V;ENSP00000442355:A382V;ENSP00000375608:A399V;ENSP00000326868:A382V;ENSP00000350901:A304V	ENSP00000326868:A382V	A	+	2	0	KIR3DL1	60033403	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.227000	0.17795	0.680000	0.31366	0.184000	0.17185	GCA		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		9	594	0	0	0	1	0	9	594					T	55341591	C	T	55341591	3	4	87	1	0	0	0	0	1	0	0	0	8350	710	25	2	1230	2	KIR3DL1	19	55341591	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	8426632	55341591	3787392	123	33144											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				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						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	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.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		9	818						9	818	---	---	---	---	-	24524185	GGA	-	24524183	7	5	87	1	0	1	0	1	0	0	0	0	16271	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-IB-A5ST-01A-11D-A32N-08		24524183	38501337	124	33145											
SLC32A1	140679	broad.mit.edu	37	chr20	37356192	37356192	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttgtgtgctgctacaccgGcaagatcctcatcgcgtgcc	11	14	1	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:37356192G>A	ENST00000217420.1	+	2	751	c.488G>A	c.(487-489)gGc>gAc	p.G163D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	163					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCTACACCGGCAAGATCCTC	0.637																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(487-489)gGc>gAc		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						79	64	69					20																	37356192		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356192G>A	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.488G>A	20.37:g.37356192G>A	ENSP00000217420:p.Gly163Asp						p.G163D	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	751	+		Myeloproliferative disorder(115;0.00878)	163					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.488G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208888	0.79240	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	M	0.81112	2.525	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.00406	-1.1759	10	0.51188	T	0.08	-22.1911	14.5807	0.68288	0.0:0.0:1.0:0.0	.	163	Q9H598	VIAAT_HUMAN	D	163	ENSP00000217420:G163D	ENSP00000217420:G163D	G	+	2	0	SLC32A1	36789606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.631000	0.98424	2.317000	0.78254	0.563000	0.77884	GGC		0.637	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		5	401	0	0	0	1	0	5	401					A	37356192	G	A	37356192	3	1	87	1	0	0	0	0	1	0	0	0	14615	1203	42	2	494	2	SLC32A1	20	37356192	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	12832009	37356192	25669328	125	33146											
NOL12	79159	broad.mit.edu	37	chr22	38084889	38084889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggaccggttggtgacaGcaaagacggagtcggtgcag	17	8	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:38084889G>A	ENST00000359114.4	+	4	341	c.271G>A	c.(271-273)Gca>Aca	p.A91T	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	91						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GTTGGTGACAGCAAAGACGGA	0.642																																						ENST00000359114.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(271-273)Gca>Aca		nucleolar protein 12							182	151	162					22																	38084889		2203	4300	6503	SO:0001583	missense	79159					nucleolus	rRNA binding	g.chr22:38084889G>A	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.271G>A	22.37:g.38084889G>A	ENSP00000352021:p.Ala91Thr					NOL12_ENST00000493862.1_3'UTR|RP1-37E16.12_ENST00000455236.1_RNA	p.A91T	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN			4	341	+	Melanoma(58;0.0574)		91						Missense_Mutation	SNP	ENST00000359114.4	37	c.271G>A	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298685	0.60195	.	.	ENSG00000256872	ENST00000359114	D	0.83755	-1.76	5.47	4.42	0.53409	.	0.363801	0.32671	N	0.005785	T	0.69646	0.3134	N	0.08118	0	0.22171	N	0.99931	P	0.43578	0.811	B	0.43838	0.433	T	0.66064	-0.6016	10	0.66056	D	0.02	-8.0737	10.4831	0.44706	0.0:0.0:0.6681:0.3319	.	91	Q9UGY1	NOL12_HUMAN	T	91	ENSP00000352021:A91T	ENSP00000352021:A91T	A	+	1	0	Z83844.2	36414835	0.998000	0.40836	0.974000	0.42286	0.956000	0.61745	4.015000	0.57152	2.573000	0.86826	0.655000	0.94253	GCA		0.642	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	NM_024313		6	542	0	0	0	1	0	6	542					A	38084889	G	A	38084889	3	1	87	1	0	0	0	0	1	0	0	0	10564	971	34	2	285	2	NOL12	22	38084889	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		38084889	13219677	126	33147											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-													cggtgccaccccagaagcccCtgctgctgctgccaccgcca							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	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						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		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.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.65	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	904						7	904	---	---	---	---	-	41753401	CTG	-	41753399	7	5	87	1	0	1	0	1	0	0	0	0	17626	681	24	0	2986	0	ZC3H7B	22	41753399	In_Frame_Del	DEL	CTG	TCGA-IB-A5ST-01A-11D-A32N-08	3668510	41753399	9551167	127	33148											
CELSR1	9620	broad.mit.edu	37	chr22	46806347	46806347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatgtccacatttttgccGtcgactgacaggttccgcat	9	13	0	1			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4879-4881)gaC>gaT		cadherin, EGF LAG seven-pass G-type receptor 1							127	110	116					22																	46806347		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46806347G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4881C>T	22.37:g.46806347G>A							p.D1627D	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4880	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1627			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4881C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	635	0	0	0	1	0	6	635					A	46806347	G	A	46806347	2	1	87	1	0	0	0	0	0	0	0	1	3230	1136	40	1		1	CELSR1	22	46806347	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	5052948	46806347	4498219	128	33149											
MXRA5	25878	broad.mit.edu	37	chrX	3242386	3242386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtagcaccttcttggccGtactctgacgtcggttcagc	10	12	3	1	rs146759954	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:3242386G>A	ENST00000217939.6	-	5	1494	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		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)				CTTCTTGGCCGTACTCTGACG	0.488													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15729	0.0		0.0	False		,,,				2504	0.0					ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1339-1341)aCg>aTg		matrix-remodelling associated 5		G	MET/THR	1,3834		0,1,0,1631,571	128	125	126		1340	3.6	0	X	dbSNP_134	126	3,6725		0,1,2,2427,1870	yes	missense	MXRA5	NM_015419.3	81	0,2,2,4058,2441	AA,AG,A,GG,G		0.0446,0.0261,0.0379	possibly-damaging	447/2829	3242386	4,10559	2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242386G>A	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.1340C>T	X.37:g.3242386G>A	ENSP00000217939:p.Thr447Met						p.T447M	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	1494	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	447					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1340C>T	CCDS14124.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.72	1.724062	0.30593	2.61E-4	4.46E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.75050	-0.9	3.63	3.63	0.41609	.	0.177406	0.26673	U	0.023082	T	0.80793	0.4691	M	0.76002	2.32	0.25976	N	0.982438	D	0.76494	0.999	P	0.57846	0.828	T	0.72874	-0.4160	10	0.72032	D	0.01	.	9.133	0.36857	0.1065:0.0:0.8935:0.0	.	447	Q9NR99	MXRA5_HUMAN	M	447	ENSP00000217939:T447M	ENSP00000217939:T447M	T	-	2	0	MXRA5	3252386	1.000000	0.71417	0.006000	0.13384	0.069000	0.16628	5.122000	0.64697	1.439000	0.47511	0.431000	0.28591	ACG		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		10	801	0	0	0	1	0	10	801					A	3242386	G	A	3242386	3	1	87	1	0	0	0	0	1	0	0	0	10044	1145	40	1	7158	1	MXRA5	23	3242386	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08		3242386	152028174	129	33150											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga					rs312262846|rs312262847|rs312262848		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					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						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48	47	47			4.2	1	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	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.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		7	272						7	272	---	---	---	---	-	13764946	A	-	13764946	7	5	87	1	0	1	0	1	0	0	0	0	10880	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-IB-A5ST-01A-11D-A32N-08	10522560	13764946	141505614	130	33151											
CA5B	11238	broad.mit.edu	37	chrX	15768189	15768189	+	Frame_Shift_Del	DEL	C	C	-													gggtcattcttcaagcctctCcaggcaaattgctgtggaga							TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:15768189delC	ENST00000318636.3	+	2	179	c.43delC	c.(43-45)ccafs	p.P15fs	CA5B_ENST00000454127.2_Frame_Shift_Del_p.P15fs|CA5B_ENST00000380313.1_3'UTR	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P15A(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TCAAGCCTCTCCAGGCAAATT	0.468																																						ENST00000318636.3																			1	Substitution - Missense(1)	p.P15A(1)	endometrium(1)	endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(43-45)cafs		carbonic anhydrase VB, mitochondrial							119	116	117					X																	15768189		2203	4300	6503	SO:0001589	frameshift_variant	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15768189delC	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"Carbonic anhydrases"	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.43delC	X.37:g.15768189delC	ENSP00000314099:p.Pro15fs					CA5B_ENST00000454127.2_Frame_Shift_Del_p.P15fs|CA5B_ENST00000380313.1_3'UTR	p.P15fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN			2	179	+	Hepatocellular(33;0.183)		15					A6NEZ4	Frame_Shift_Del	DEL	ENST00000318636.3	37	c.43delC	CCDS14171.1																																																																																				0.468	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	NM_007220		22	736						22	736	---	---	---	---	-	15768189	C	-	15768189	7	5	87	1	0	1	0	1	0	0	0	0	2527	855	30	0	45	0	CA5B	23	15768189	Frame_Shift_Del	DEL	C	TCGA-IB-A5ST-01A-11D-A32N-08	2003243	15768189	139502371	131	33152											
ZNF645	158506	broad.mit.edu	37	chrX	22292036	22292036	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tagttactcctaactcggttCgtagccaagtgccagctcta	8	12	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:22292036C>T	ENST00000323684.1	+	1	972	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	310	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TAACTCGGTTCGTAGCCAAGT	0.468																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(928-930)Cgt>Tgt		zinc finger protein 645							136	104	115					X																	22292036		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292036C>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.928C>T	X.37:g.22292036C>T	ENSP00000323348:p.Arg310Cys						p.R310C	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	972	+			310			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.928C>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684388	0.14907	.	.	ENSG00000175809	ENST00000323684	T	0.30448	1.53	2.42	-0.0632	0.13778	.	3.358530	0.02026	N	0.048193	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.56958	D	0.05	.	5.4112	0.16349	0.0:0.3033:0.0:0.6967	.	310	Q8N7E2	ZN645_HUMAN	C	310	ENSP00000323348:R310C	ENSP00000323348:R310C	R	+	1	0	ZNF645	22201957	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.443000	0.52907	-0.088000	0.12506	-0.296000	0.09543	CGT		0.468	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		12	380	0	0	0	1	0	12	380					T	22292036	C	T	22292036	3	4	87	1	0	0	0	0	1	0	0	0	18114	884	31	1	930	1	ZNF645	23	22292036	Missense_Mutation	SNP	C	TCGA-IB-A5ST-01A-11D-A32N-08	6523847	22292036	132978524	132	33153											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		8	54						8	54	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	87	1	0	1	1	0	0	0	0	0	6217	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-IB-A5ST-01A-11D-A32N-08	26916259	49208295	106062265	133	33154											
CXorf57	55086	broad.mit.edu	37	chrX	105855530	105855530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtaactgtgctggccGtccagaggtacctgttagag	13	10	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:105855530G>A	ENST00000372548.4	+	1	329	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	74							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						TGTGCTGGCCGTCCAGAGGTA	0.567																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(220-222)Gtc>Atc		chromosome X open reading frame 57							96	84	88					X																	105855530		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105855530G>A	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.220G>A	X.37:g.105855530G>A	ENSP00000361628:p.Val74Ile					CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	p.V74I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			1	329	+			74					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.220G>A	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122698	0.37436	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80304	-1.36;-1.36	3.47	1.69	0.24217	Nucleic acid-binding, OB-fold-like (1);	0.292022	0.28338	N	0.015703	T	0.70518	0.3233	M	0.64997	1.995	0.26035	N	0.981682	P;P;B	0.36125	0.538;0.538;0.366	B;B;B	0.29942	0.109;0.109;0.035	T	0.58446	-0.7635	10	0.30078	T	0.28	-2.4941	7.0559	0.25099	0.233:0.0:0.767:0.0	.	74;74;74	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	74	ENSP00000361623:V74I;ENSP00000361628:V74I	ENSP00000361623:V74I	V	+	1	0	CXorf57	105742186	0.338000	0.24775	0.468000	0.27192	0.810000	0.45777	0.505000	0.22642	0.314000	0.23086	0.600000	0.82982	GTC		0.567	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		6	528	0	0	0	1	0	6	528					A	105855530	G	A	105855530	3	1	87	1	0	0	0	0	1	0	0	0	4124	1145	40	1	222	1	CXorf57	23	105855530	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	56647235	105855530	49415030	134	33155											
CXorf56	63932	broad.mit.edu	37	chrX	118699217	118699217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactaggaccatctggccGcacaaacagtagtaaacatg	9	11	1	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	34										cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577																																						ENST00000371594.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(100-102)tgC>tgT		chromosome X open reading frame 56							78	75	76					X																	118699217		2203	4300	6503	SO:0001819	synonymous_variant	63932						protein binding	g.chrX:118699217G>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.102C>T	X.37:g.118699217G>A						CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C|CXorf56_ENST00000486230.1_Silent_p.C34C|CXorf56_ENST00000476164.1_Silent_p.C34C	p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN			1	180	-			34					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	ENST00000371594.4	37	c.102C>T	CCDS14579.1																																																																																				0.577	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		5	579	0	0	0	1	0	5	579					A	118699217	G	A	118699217	2	1	87	1	0	0	0	0	0	0	0	1	4123	1079	38	1		1	CXorf56	23	118699217	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	12843687	118699217	36571343	135	33156											
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-													ctcactactttcctcagagcCctcctcagggggaggactcc					rs377463560		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										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	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	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.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	1877						12	1877	---	---	---	---	-	140994846	CCT	-	140994844	7	5	87	1	0	1	0	1	0	0	0	0	9221	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-IB-A5ST-01A-11D-A32N-08	22295627	140994844	14275716	136	33157											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	311	0	0	0	1	0	5	311					A	150156360	G	A	150156360	2	1	87	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	9161516	150156360	5114200	137	33158			2	22		2	2	19	G		8.023788e-05
HMGB3	3149	broad.mit.edu	37	chrX	150156378	150156378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaataaagaaactgttt	18	1	0	2			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(592-594)gaG>gaT		high mobility group box 3							49	48	49					X																	150156378		2203	4299	6502	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156378G>T	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp					HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.594G>T	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG		0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	368	1	0	0.0215528	1	0.0220239	6	368					T	150156378	G	T	150156378	3	4	87	1	0	0	0	0	1	0	0	0	7257	991	35	3	608	3	HMGB3	23	150156378	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	18	150156378	5114182	138	33159			2	22		2	2	19	G		8.023788e-05
IL9R	3581	broad.mit.edu	37	chrX	155239821	155239821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacaacaacaactactgtg	9	13	0	0			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:155239821G>A	ENST00000244174.5	+	9	1492	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S417N	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	438	Poly-Ser.			S -> SS (in Ref. 1; AAA58679 and 4; AAL55435). {ECO:0000305}.	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)					agcagcagcagcaacaacaac	0.642																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1249-1251)aGc>aAc		interleukin 9 receptor		G	ASN/SER	62,4206		2,58,2074	8	15	13		1313		0	X	dbSNP_134	13	18,8496		0,18,4239	no	missense	IL9R	NM_002186.2	46	2,76,6313	AA,AG,GG		0.2114,1.4527,0.6259		438/522	155239821	80,12702	2134	4257	6391	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239821G>A	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.1313G>A	X.37:g.155239821G>A	ENSP00000244174:p.Ser438Asn					IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S438N	p.S417N			Q01113	IL9R_HUMAN			10	1617	+	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)		438					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1250G>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	4.299	0.054780	0.08291	0.014527	0.002114	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.12039	2.72;2.72	.	.	.	.	39.681300	0.00166	N	0.000000	T	0.09730	0.0239	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29912	-0.9996	5	0.52906	T	0.07	.	.	.	.	.	438	Q01113	IL9R_HUMAN	N	438;417	ENSP00000244174:S438N;ENSP00000388918:S417N	ENSP00000244174:S438N	S	+	2	0	IL9R	154893015	0.004000	0.15560	0.015000	0.15790	0.015000	0.08874	0.112000	0.15479	0.099000	0.17552	0.100000	0.15512	AGC		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		5	109	0	0	0	1	0	5	109					A	155239821	G	A	155239821	3	1	87	1	0	0	0	0	1	0	0	0	7738	971	34	2	1347	2	IL9R	23	155239821	Missense_Mutation	SNP	G	TCGA-IB-A5ST-01A-11D-A32N-08	5083443	155239821	30739	139	33160											
LUZP1	7798	broad.mit.edu	37	chr1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatggctctagaccGcaacgcctctctggggctaa	11	11	2	3	rs146031719	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2251-2253)Cgg>Tgg		leucine zipper protein 1		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	143	140		2251,2251	3.4	1	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418504G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp					LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W	p.R751W			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3052	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	751					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2251C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	LUZP1	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		6	902	0	0	0	1	0	6	902					A	23418504	G	A	23418504	3	1	88	1	0	0	0	0	1	0	0	0	9124	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		23418504	225832117	1	33161											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|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)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	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.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		8	547						8	547	---	---	---	---	-	38166151	GAA	-	38166149	7	5	88	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-IB-A6UF-01A-23D-A33T-08	14747645	38166149	211084472	2	33162											
ERMAP	114625	broad.mit.edu	37	chr1	43296629	43296629	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggatgaagatctgatgccGgaatataaggggaggacggt	16	5	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:43296629G>A	ENST00000372517.2	+	4	520	c.276G>A	c.(274-276)ccG>ccA	p.P92P	ERMAP_ENST00000372514.3_Silent_p.P92P|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_Silent_p.P2P	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	92	Ig-like V-type.					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)				ATCTGATGCCGGAATATAAGG	0.572																																						ENST00000328249.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(4-6)ccG>ccA		erythroblast membrane-associated protein (Scianna blood group)							117	102	107					1																	43296629		2203	4300	6503	SO:0001819	synonymous_variant	114625					integral to membrane|plasma membrane		g.chr1:43296629G>A	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.276G>A	1.37:g.43296629G>A						ERMAP_ENST00000372514.3_Silent_p.P92P|ERMAP_ENST00000372517.2_Silent_p.P92P|ERMAP_ENST00000487556.1_Intron	p.P2P			Q96PL5	ERMAP_HUMAN			1	1044	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	92					D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Silent	SNP	ENST00000372517.2	37	c.6G>A	CCDS475.1																																																																																				0.572	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		4	252	0	0	0	1	0	4	252					A	43296629	G	A	43296629	2	1	88	1	0	0	0	0	0	0	0	1	5252	1103	39	1		1	ERMAP	1	43296629	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5130480	43296629	205953992	3	33163											
PTPRF	5792	broad.mit.edu	37	chr1	44054537	44054537	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgggggccgaggagcTcaccaaggaggatgagatgc	18	7	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:44054537T>C	ENST00000359947.4	+	8	1155	c.815T>C	c.(814-816)cTc>cCc	p.L272P	PTPRF_ENST00000438120.1_Missense_Mutation_p.L272P|PTPRF_ENST00000372413.3_Missense_Mutation_p.L272P|PTPRF_ENST00000372414.3_Missense_Mutation_p.L272P|PTPRF_ENST00000422171.2_5'Flank	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	272	Ig-like C2-type 3.				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)				GCCGAGGAGCTCACCAAGGAG	0.622																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(814-816)cTc>cCc		protein tyrosine phosphatase, receptor type, F							129	101	110					1																	44054537		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44054537T>C	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.815T>C	1.37:g.44054537T>C	ENSP00000353030:p.Leu272Pro					PTPRF_ENST00000372413.3_Missense_Mutation_p.L272P|PTPRF_ENST00000372414.3_Missense_Mutation_p.L272P|PTPRF_ENST00000438120.1_Missense_Mutation_p.L272P	p.L272P	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			8	1155	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	272			Ig-like C2-type 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.815T>C	CCDS489.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180087	0.78564	.	.	ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.62	5.62	0.85841	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30999	N	0.008451	D	0.86863	0.6035	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.87323	0.2319	10	0.33141	T	0.24	.	16.1281	0.81408	0.0:0.0:0.0:1.0	.	272;272	P10586-2;P10586	.;PTPRF_HUMAN	P	272	ENSP00000353030:L272P;ENSP00000398822:L272P;ENSP00000361491:L272P;ENSP00000361490:L272P	ENSP00000353030:L272P	L	+	2	0	PTPRF	43827124	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	8.036000	0.88901	2.268000	0.75426	0.533000	0.62120	CTC		0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			68	138	0	0	0	1	0	68	138					C	44054537	T	C	44054537	3	2	88	1	0	0	0	0	1	0	0	0	12851	1551	54	4	837	4	PTPRF	1	44054537	Missense_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	757908	44054537	205196084	4	33164											
CYP2J2	1573	broad.mit.edu	37	chr1	60359496	60359496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgttctccgaggcatgcccGctttcctgtaagacaaaatc	8	13	1	1	rs201379188		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:60359496G>A	ENST00000371204.3	-	9	1379	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	446					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AGGCATGCCCGCTTTCCTGTA	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		19723	0.001		0.0	False		,,,				2504	0.0					ENST00000371204.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26						c.(1336-1338)Cgg>Tgg		cytochrome P450, family 2, subfamily J, polypeptide 2							117	129	125					1																	60359496		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60359496G>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.1336C>T	1.37:g.60359496G>A	ENSP00000360247:p.Arg446Trp					CYP2J2_ENST00000492633.1_5'UTR	p.R446W	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN			9	1379	-	all_cancers(7;0.000396)		446					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.1336C>T	CCDS613.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.41	3.821599	0.71028	.	.	ENSG00000134716	ENST00000371204	D	0.93133	-3.17	5.95	-1.46	0.08800	Cytochrome P450, conserved site (1);	0.061474	0.64402	D	0.000004	D	0.96719	0.8929	H	0.97390	3.995	0.46586	D	0.999119	D	0.69078	0.997	D	0.63283	0.913	D	0.94487	0.7698	10	0.87932	D	0	.	7.3676	0.26783	0.1393:0.0:0.3671:0.4936	.	446	P51589	CP2J2_HUMAN	W	446	ENSP00000360247:R446W	ENSP00000360247:R446W	R	-	1	2	CYP2J2	60132084	0.955000	0.32602	0.835000	0.33067	0.993000	0.82548	0.238000	0.18004	-0.095000	0.12351	0.655000	0.94253	CGG		0.443	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		6	887	0	0	0	1	0	6	887					A	60359496	G	A	60359496	3	1	88	1	0	0	0	0	1	0	0	0	4183	1086	38	1	176	1	CYP2J2	1	60359496	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	16304959	60359496	188891125	5	33165											
USP33	23032	broad.mit.edu	37	chr1	78178968	78178969	+	Splice_Site	INS	-	-	A													cttttcttggaggaacacctINSaaaaaaatatataaacatat							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:78178968_78178969insA	ENST00000370793.1	-	21	2655		c.e21-2		USP33_ENST00000370792.3_Splice_Site|USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370794.3_Splice_Site	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33						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						GAGGAACACCTAAAAAAATATA	0.287																																					Melanoma(152;72 1870 11110 26780 42647)	ENST00000370793.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						c.e21-2		ubiquitin specific peptidase 33																																				SO:0001630	splice_region_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78178968_78178969insA	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.2309-2->T	1.37:g.78178975_78178975dupA						USP33_ENST00000357428.1_Splice_Site|USP33_ENST00000370794.3_Splice_Site|USP33_ENST00000370792.3_Splice_Site		NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN			21	2655	-								Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Splice_Site	INS	ENST00000370793.1	37		CCDS678.1																																																																																				0.287	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	Intron	7	376						7	376	---	---	---	---	A	78178969	-	A	78178968	8	5	88	1	0	1	1	0	0	0	1	0	17118	1536	53	0	553	0	USP33	1	78178968	Splice_Site	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	17819472	78178968	171071653	6	33166											
RSBN1	54665	broad.mit.edu	37	chr1	114308998	114308998	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtagatatcattgtcGcaaagctgaattctagcata	8	6	2	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:114308998G>A	ENST00000261441.5	-	7	2076	c.2013C>T	c.(2011-2013)tgC>tgT	p.C671C	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	671						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)		TATCATTGTCGCAAAGCTGAA	0.418																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(2011-2013)tgC>tgT		round spermatid basic protein 1							90	83	86					1																	114308998		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308998G>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2013C>T	1.37:g.114308998G>A						RSBN1_ENST00000369581.2_5'UTR	p.C671C	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2076	-	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)	671					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2013C>T	CCDS862.1																																																																																				0.418	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		6	530	0	0	0	1	0	6	530					A	114308998	G	A	114308998	2	1	88	1	0	0	0	0	0	0	0	1	13746	1079	38	1		1	RSBN1	1	114308998	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	36130030	114308998	134941623	7	33167											
ZNF687	57592	broad.mit.edu	37	chr1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccaaaggtggtgagcGtacagttgggtgatggtaca	17	5	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					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)			GGTGGTGAGCGTACAGTTGGG	0.597																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(1162-1164)Gta>Ata		zinc finger protein 687							72	64	67					1																	151259929		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259929G>A		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.1162G>A	1.37:g.151259929G>A	ENSP00000357874:p.Val388Ile						p.V388I	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1260	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		388					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613923	0.46631	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.92	5.27	5.27	0.74061	.	0.000000	0.32161	N	0.006495	T	0.01254	0.0041	L	0.44542	1.39	0.23089	N	0.998319	D;P;D	0.76494	0.996;0.954;0.999	P;B;P	0.56514	0.743;0.422;0.8	T	0.58312	-0.7658	9	.	.	.	.	17.8288	0.88674	0.0:0.0:1.0:0.0	.	388;388;388	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	I	388	ENSP00000336620:V388I;ENSP00000319829:V388I;ENSP00000357874:V388I	.	V	+	1	0	ZNF687	149526553	0.997000	0.39634	0.218000	0.23776	0.669000	0.39330	4.051000	0.57412	2.758000	0.94735	0.561000	0.74099	GTA		0.597	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		5	503	0	0	0	1	0	5	503					A	151259929	G	A	151259929	3	1	88	1	0	0	0	0	1	0	0	0	18145	1145	40	1	1164	1	ZNF687	1	151259929	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	36950931	151259929	97990692	8	33168											
RPTN	126638	broad.mit.edu	37	chr1	152128186	152128186	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgtctgtctgaccAtagtgggaactctggccttg	11	11	4	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788	697	725					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		17	4283	0	0	0	1	0	17	4283					G	152128186	A	G	152128186	2	3	88	1	0	0	0	0	0	0	0	1	13714	224	8	4		4	RPTN	1	152128186	Silent	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	868257	152128186	97122435	9	33169											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		7	534	0	0	0	1	0	7	534					T	153907309	C	T	153907309	2	4	88	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1779123	153907309	95343312	10	33170											
COPA	1314	broad.mit.edu	37	chr1	160302256	160302256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaaatatcccaaacgcGcacagtctggtccaggctgg	10	13	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:160302256G>A	ENST00000241704.7	-	6	707	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	COPA_ENST00000368069.3_Missense_Mutation_p.R160C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	160					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCAAACGCGCACAGTCTGG	0.483																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(478-480)Cgc>Tgc		coatomer protein complex, subunit alpha							114	103	107					1																	160302256		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160302256G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.478C>T	1.37:g.160302256G>A	ENSP00000241704:p.Arg160Cys					COPA_ENST00000368069.3_Missense_Mutation_p.R160C	p.R160C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		6	707	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		160					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.478C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326408	0.81690	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68025	-0.3;-0.3	5.05	4.13	0.48395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.053904	0.64402	N	0.000001	T	0.79621	0.4477	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84076	0.0382	10	0.87932	D	0	-11.1798	12.468	0.55771	0.0814:0.0:0.9186:0.0	.	160;160	P53621;P53621-2	COPA_HUMAN;.	C	160	ENSP00000357048:R160C;ENSP00000241704:R160C	ENSP00000241704:R160C	R	-	1	0	COPA	158568880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.381000	0.97205	1.351000	0.45789	0.561000	0.74099	CGC		0.483	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	505	0	0	0	1	0	6	505					A	160302256	G	A	160302256	3	1	88	1	0	0	0	0	1	0	0	0	3736	1087	38	1	3335	1	COPA	1	160302256	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6394947	160302256	88948365	11	33171											
TOMM40L	84134	broad.mit.edu	37	chr1	161197719	161197719	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcagtttgatggcgagtatCggggagatgactacacagcc	15	8	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:161197719C>T	ENST00000367988.3	+	6	693	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R108W|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R142W	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	142					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGGCGAGTATCGGGGAGATGA	0.517											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367988.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(424-426)Cgg>Tgg		translocase of outer mitochondrial membrane 40 homolog (yeast)-like							60	56	57					1																	161197719		2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161197719C>T		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.424C>T	1.37:g.161197719C>T	ENSP00000356967:p.Arg142Trp		OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R108W|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R142W	p.R142W	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	693	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		142					B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.424C>T	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552943	0.65425	.	.	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.46819	0.86;0.86;0.86	5.91	4.99	0.66335	.	0.053759	0.64402	D	0.000001	T	0.34716	0.0907	M	0.74881	2.28	0.47214	D	0.999355	P;P;P	0.43431	0.807;0.807;0.807	B;B;B	0.40506	0.331;0.331;0.331	T	0.41716	-0.9493	9	0.42905	T	0.14	-26.3182	11.9964	0.53206	0.3146:0.6854:0.0:0.0	.	108;24;142	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	W	142;108;89;142	ENSP00000356967:R142W;ENSP00000443233:R108W;ENSP00000356966:R142W	ENSP00000356966:R142W	R	+	1	2	TOMM40L	159464343	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.184000	0.42575	1.475000	0.48197	0.655000	0.94253	CGG		0.517	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		51	273	0	0	0	1	0	51	273					T	161197719	C	T	161197719	3	4	88	1	0	0	0	0	1	0	0	0	16411	875	31	1	442	1	TOMM40L	1	161197719	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	895463	161197719	88052902	12	33172											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	10	439						10	439	---	---	---	---	A	165712551	-	A	165712550	8	5	88	1	0	1	1	0	0	0	1	0	16047	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	4514831	165712550	83538071	13	33173											
SLC9A11	284525	broad.mit.edu	37	chr1	173526501	173526501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgtggtacttccacttttCgttcagcgagattataaaca	7	8	1	1	rs528983665		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:173526501C>T	ENST00000367714.3	-	10	1615	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	398					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		17442	0.0		0.0	False		,,,				2504	0.001					ENST00000367714.3																			2	Substitution - Missense(2)	p.R398Q(2)	kidney(1)|skin(1)								c.(1192-1194)cGa>cAa		solute carrier family 9, member C2 (putative)							104	113	110					1																	173526501		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526501C>T	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1193G>A	1.37:g.173526501C>T	ENSP00000356687:p.Arg398Gln					RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q	p.R398Q	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1615	-			398					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.1193G>A	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	4.407	0.075265	0.08485	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.20598	2.06;2.06	5.56	0.186	0.15105	Cation/H+ exchanger (1);	1.946090	0.02262	N	0.067620	T	0.02304	0.0071	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32508	-0.9904	10	0.27785	T	0.31	-0.0524	2.3114	0.04187	0.1443:0.0856:0.33:0.44	.	398	Q5TAH2	S9A11_HUMAN	Q	398;296	ENSP00000356687:R398Q;ENSP00000445437:R296Q	ENSP00000356687:R398Q	R	-	2	0	SLC9A11	171793124	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.220000	0.17660	0.067000	0.16545	-0.324000	0.08512	CGA		0.363	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		193	620	0	0	0	1	0	193	620					T	173526501	C	T	173526501	3	4	88	1	0	0	0	0	1	0	0	0	14761	884	31	1	2257	1	SLC9A11	1	173526501	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	7813951	173526501	75724120	14	33174											
DHX9	1660	broad.mit.edu	37	chr1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-													tgttcctggagctgtgttggTttttttgcctggctggaatc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171	155	160					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	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.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		9	1115						9	1115	---	---	---	---	-	182845333	T	-	182845333	7	5	88	1	0	1	0	1	0	0	0	0	4532	1725	60	0	2026	0	DHX9	1	182845333	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	9318832	182845333	66405288	15	33175											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	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						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	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.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		18	657						18	657	---	---	---	---	A	183515267	-	A	183515266	7	5	88	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	669933	183515266	65735355	16	33176											
RGS2	5997	broad.mit.edu	37	chr1	192779364	192779364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcctgggaagcccaaaaCcggcaaaaaaagcaaacagc	8	12	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:192779364C>T	ENST00000235382.5	+	2	210	c.179C>T	c.(178-180)aCc>aTc	p.T60I	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	60	Necessary for membrane association.				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						AAGCCCAAAACCGGCAAAAAA	0.358																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(178-180)aCc>aTc		regulator of G-protein signaling 2, 24kDa							76	81	79					1																	192779364		2203	4300	6503	SO:0001583	missense	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192779364C>T	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.179C>T	1.37:g.192779364C>T	ENSP00000235382:p.Thr60Ile					RGS2_ENST00000483295.1_3'UTR	p.T60I	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN			2	210	+			60			Necessary for membrane association.		Q6I9U5	Missense_Mutation	SNP	ENST00000235382.5	37	c.179C>T	CCDS1377.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596210	0.28445	.	.	ENSG00000116741	ENST00000235382	T	0.70749	-0.51	5.9	4.97	0.65823	.	0.873372	0.10199	N	0.703678	T	0.53932	0.1827	N	0.14661	0.345	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	10	0.41790	T	0.15	.	8.6472	0.34013	0.1532:0.7709:0.0:0.0759	.	60	P41220	RGS2_HUMAN	I	60	ENSP00000235382:T60I	ENSP00000235382:T60I	T	+	2	0	RGS2	191045987	0.003000	0.15002	0.641000	0.29422	0.958000	0.62258	0.491000	0.22419	1.469000	0.48083	0.655000	0.94253	ACC		0.358	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		92	385	0	0	0	1	0	92	385					T	192779364	C	T	192779364	3	4	88	1	0	0	0	0	1	0	0	0	13352	507	18	2	185	2	RGS2	1	192779364	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	9264098	192779364	56471257	17	33177											
LGR6	59352	broad.mit.edu	37	chr1	202287853	202287853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtcacgcccgaggccGtcaagtctgtcctgctggtg	12	15	3	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:202287853G>A	ENST00000367278.3	+	18	2511	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I	LGR6_ENST00000255432.7_Missense_Mutation_p.V756I|LGR6_ENST00000439764.2_Missense_Mutation_p.V669I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	808					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						GCCCGAGGCCGTCAAGTCTGT	0.647																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(2422-2424)Gtc>Atc		leucine-rich repeat containing G protein-coupled receptor 6							105	89	95					1																	202287853		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287853G>A	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.2422G>A	1.37:g.202287853G>A	ENSP00000356247:p.Val808Ile					LGR6_ENST00000439764.2_Missense_Mutation_p.V669I|LGR6_ENST00000255432.7_Missense_Mutation_p.V756I	p.V808I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			18	2511	+			808					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2422G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	2.892	-0.229549	0.06022	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.37058	1.22;1.22;1.22	4.6	1.6	0.23607	.	0.252924	0.32852	N	0.005573	T	0.12689	0.0308	N	0.04959	-0.14	0.22081	N	0.999379	B;B;B	0.25609	0.13;0.021;0.014	B;B;B	0.18561	0.022;0.004;0.007	T	0.19095	-1.0316	10	0.15952	T	0.53	.	3.813	0.08804	0.4036:0.1804:0.4161:0.0	.	669;756;808	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	I	808;756;669	ENSP00000356247:V808I;ENSP00000255432:V756I;ENSP00000387869:V669I	ENSP00000255432:V756I	V	+	1	0	LGR6	200554476	0.967000	0.33354	0.995000	0.50966	0.988000	0.76386	1.184000	0.32053	0.260000	0.21731	0.485000	0.47835	GTC		0.647	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		6	935	0	0	0	1	0	6	935					A	202287853	G	A	202287853	3	1	88	1	0	0	0	0	1	0	0	0	8790	1145	40	1	2639	1	LGR6	1	202287853	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	9508489	202287853	46962768	18	33178											
FMOD	2331	broad.mit.edu	37	chr1	203316600	203316600	+	Frame_Shift_Del	DEL	C	C	-													cacatacagcagcttgggcgCcccccggaagtagctatcgg					rs139730140		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:203316600delC	ENST00000354955.4	-	2	1262	c.799delG	c.(799-801)gcgfs	p.A267fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	267					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			AGCTTGGGCGCCCCCCGGAAG	0.577																																						ENST00000354955.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(799-801)cgfs		fibromodulin							105	103	104					1																	203316600		2203	4300	6503	SO:0001589	frameshift_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316600delC	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.799delG	1.37:g.203316600delC	ENSP00000347041:p.Ala267fs					FMOD_ENST00000464898.1_5'UTR	p.A267fs	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1262	-			267					Q15331|Q8IV47	Frame_Shift_Del	DEL	ENST00000354955.4	37	c.799delG	CCDS30976.1																																																																																				0.577	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		8	1019						8	1019	---	---	---	---	-	203316600	C	-	203316600	7	5	88	1	0	1	0	1	0	0	0	0	5984	739	26	0	339	0	FMOD	1	203316600	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	1028747	203316600	45934021	19	33179											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	8	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140	147	145					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		7	837	0	0	0	1	0	7	837					T	204170871	C	T	204170871	2	4	88	1	0	0	0	0	0	0	0	1	6599	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	854271	204170871	45079750	20	33180											
ELK4	2005	broad.mit.edu	37	chr1	205589560	205589560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaattgaaatggtggcaGcaacaggttcaaccggtggc	14	9	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:205589560G>A	ENST00000357992.4	-	3	953	c.614C>T	c.(613-615)gCt>gTt	p.A205V	ELK4_ENST00000289703.4_Missense_Mutation_p.A205V|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	205					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			AATGGTGGCAGCAACAGGTTC	0.478			T	SLC45A3	prostate																																	ENST00000357992.4				Dom	yes		1	1q32	2005	T	"ELK4, ETS-domain protein (SRF accessory protein 1)"			E	SLC45A3		prostate	SLC45A3/ELK4(18)	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12						c.(613-615)gCt>gTt		ELK4, ETS-domain protein (SRF accessory protein 1)							76	79	78					1																	205589560		2203	4300	6503	SO:0001583	missense	2005							g.chr1:205589560G>A	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.614C>T	1.37:g.205589560G>A	ENSP00000350681:p.Ala205Val					ELK4_ENST00000289703.4_Missense_Mutation_p.A205V	p.A205V	NM_001973.3	NP_001964.2			BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	953	-	Breast(84;0.07)							P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.614C>T	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.038791	0.00402	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.29655	1.77;1.56	5.8	3.91	0.45181	.	0.648183	0.17214	N	0.182595	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B;B	0.22683	0.073;0.006	B;B	0.21708	0.036;0.01	T	0.31223	-0.9951	10	0.10377	T	0.69	.	10.5205	0.44916	0.1355:0.1148:0.7496:0.0	.	205;205	P28324-2;P28324	.;ELK4_HUMAN	V	295;205;205	ENSP00000350681:A205V;ENSP00000289703:A205V	ENSP00000289703:A205V	A	-	2	0	ELK4	203856183	0.127000	0.22367	0.001000	0.08648	0.182000	0.23217	1.974000	0.40559	0.372000	0.24591	-0.813000	0.03139	GCT		0.478	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		5	561	0	0	0	1	0	5	561					A	205589560	G	A	205589560	3	1	88	1	0	0	0	0	1	0	0	0	5079	971	34	2	831	2	ELK4	1	205589560	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1418689	205589560	43661061	21	33181											
CTSE	1510	broad.mit.edu	37	chr1	206331027	206331027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccaacccacaggacttcGtggatggaatgcagttctgc	10	11	1	0	rs145069780	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:206331027G>A	ENST00000358184.2	+	9	1151	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	CTSE_ENST00000361052.3_Missense_Mutation_p.V350M|CTSE_ENST00000432969.2_Silent_p.S222S|CTSE_ENST00000360218.2_Silent_p.S297S	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	350					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACAGGACTTCGTGGATGGAAT	0.552													g|||	4	0.000798722	0.0	0.0	5008	,	,		20997	0.0		0.002	False		,,,				2504	0.002					ENST00000361052.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16						c.(1048-1050)Gtg>Atg		cathepsin E		G	MET/VAL,	1,4405	2.1+/-5.4	0,1,2202	189	184	186		1033,891	4.1	0.3	1	dbSNP_134	186	22,8578	16.0+/-53.3	0,22,4278	yes	missense,coding-synonymous	CTSE	NM_001910.3,NM_148964.2	21,	0,23,6480	AA,AG,GG		0.2558,0.0227,0.1768	possibly-damaging,	345/397,297/364	206331027	23,12983	2203	4300	6503	SO:0001583	missense	1510				antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	g.chr1:206331027G>A	BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"Cathepsins"	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.1033G>A	1.37:g.206331027G>A	ENSP00000350911:p.Val345Met					CTSE_ENST00000360218.2_Silent_p.S297S|CTSE_ENST00000358184.2_Missense_Mutation_p.V345M|CTSE_ENST00000432969.2_Silent_p.S222S	p.V350M			P14091	CATE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		9	1166	+			350					Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	c.1048G>A	CCDS1462.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	9.329	1.060007	0.19987	2.27E-4	0.002558	ENSG00000196188	ENST00000358184;ENST00000361052	T;T	0.57752	0.38;0.38	4.98	4.05	0.47172	.	0.566694	0.16139	N	0.227824	T	0.33585	0.0868	N	0.25380	0.74	0.19775	N	0.99996	B	0.27498	0.18	B	0.19148	0.024	T	0.23476	-1.0187	10	0.62326	D	0.03	.	3.6214	0.08097	0.2362:0.0:0.5746:0.1892	.	345	P14091-1	.	M	345;350	ENSP00000350911:V345M;ENSP00000354337:V350M	ENSP00000350911:V345M	V	+	1	0	CTSE	204497650	0.000000	0.05858	0.282000	0.24776	0.431000	0.31685	0.742000	0.26216	1.421000	0.47157	0.551000	0.68910	GTG		0.552	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910		304	974	0	0	0	1	0	304	974					A	206331027	G	A	206331027	3	1	88	1	0	0	0	0	1	0	0	0	4044	1145	40	1	1067	1	CTSE	1	206331027	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	741467	206331027	42919594	22	33182											
FAM71A	149647	broad.mit.edu	37	chr1	212798637	212798637	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatgagaaacaacagctgCgcctgaagttcgccactggc	10	13	0	2	rs555988865		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:212798637C>T	ENST00000294829.3	+	1	849	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	140						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)		ACAACAGCTGCGCCTGAAGTT	0.483																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(418-420)Cgc>Tgc		family with sequence similarity 71, member A							100	105	103					1																	212798637		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798637C>T		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.418C>T	1.37:g.212798637C>T	ENSP00000294829:p.Arg140Cys					RP11-338C15.5_ENST00000427949.1_RNA	p.R140C	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	849	+			140					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.418C>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645226	0.67358	.	.	ENSG00000162771	ENST00000294829	T	0.19250	2.16	4.29	4.29	0.51040	.	0.312745	0.22908	N	0.054176	T	0.45236	0.1332	M	0.74546	2.27	0.47698	D	0.999498	D	0.89917	1.0	D	0.83275	0.996	T	0.43589	-0.9382	10	0.72032	D	0.01	-20.9761	12.4812	0.55844	0.0:1.0:0.0:0.0	.	140	Q8IYT1	FA71A_HUMAN	C	140	ENSP00000294829:R140C	ENSP00000294829:R140C	R	+	1	0	FAM71A	210865260	0.385000	0.25172	1.000000	0.80357	0.701000	0.40568	0.230000	0.17852	2.405000	0.81733	0.557000	0.71058	CGC		0.483	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		395	453	0	0	0	1	0	395	453					T	212798637	C	T	212798637	3	4	88	1	0	0	0	0	1	0	0	0	5632	768	27	1	420	1	FAM71A	1	212798637	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	6467610	212798637	36451984	23	33183											
LBR	3930	broad.mit.edu	37	chr1	225600349	225600349	+	Splice_Site	DEL	T	T	-													aggataaaagcatagaatccTttaaaaaaaaaaaaaaaagg					rs199778388		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:225600349delT	ENST00000338179.2	-	8	1018		c.e8-2		AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Splice_Site	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor						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)		CATAGAATCCTTTAAAAAAAA	0.353																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.e8-2		lamin B receptor							24	26	25					1																	225600349		2202	4300	6502	SO:0001630	splice_region_variant	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225600349delT	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.893-2A>-	1.37:g.225600349delT						LBR_ENST00000272163.4_Splice_Site		NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	8	1018	-	Breast(184;0.165)							B2R5P3|Q14740|Q53GU7|Q59FE6	Splice_Site	DEL	ENST00000338179.2	37		CCDS1545.1																																																																																				0.353	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	Intron	8	212						8	212	---	---	---	---	-	225600349	T	-	225600349	8	5	88	1	0	1	0	1	0	0	1	0	8683	1623	56	0	984	0	LBR	1	225600349	Splice_Site	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	12801712	225600349	23650272	24	33184											
MTR	4548	broad.mit.edu	37	chr1	237057764	237057764	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtttgccgttgcctgCtttggggtagaagagctgag	16	8	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr1:237057764C>A	ENST00000366577.5	+	30	3706	c.3312C>A	c.(3310-3312)tgC>tgA	p.C1104*	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Nonsense_Mutation_p.C1053*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1104	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)	CCGTTGCCTGCTTTGGGGTAG	0.582																																						ENST00000366577.5																			0				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						c.(3310-3312)tgC>tgA		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						133	108	116					1																	237057764		2203	4300	6503	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237057764C>A	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.3312C>A	1.37:g.237057764C>A	ENSP00000355536:p.Cys1104*					MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Nonsense_Mutation_p.C1053*	p.C1104*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	30	3706	+	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)	1104			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.3312C>A	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	39	7.595927	0.98381	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.57	4.66	0.58398	.	0.270973	0.36591	N	0.002508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-15.4112	10.8432	0.46728	0.0:0.8558:0.0:0.1442	.	.	.	.	X	958;1104;1053;658	.	ENSP00000355535:C658X	C	+	3	2	MTR	235124387	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.490000	0.22403	1.495000	0.48549	0.655000	0.94253	TGC		0.582	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		5	571	1	0	0.184627	1	0.184627	5	571					A	237057764	C	A	237057764	4	1	88	1	0	0	0	0	0	1	0	0	9999	805	28	3	3430	3	MTR	1	237057764	Nonsense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	11457415	237057764	12192857	25	33185											
TMEM214	54867	broad.mit.edu	37	chr2	27259437	27259437	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtcaagcaggttttgCcaacctcaccgagggactga	12	12	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:27259437C>T	ENST00000238788.9	+	6	865	c.803C>T	c.(802-804)gCc>gTc	p.A268V	TMEM214_ENST00000404032.3_Missense_Mutation_p.A223V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	268					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						GCAGGTTTTGCCAACCTCACC	0.567																																						ENST00000238788.9																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(802-804)gCc>gTc		transmembrane protein 214							99	99	99					2																	27259437		1938	4140	6078	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27259437C>T		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.803C>T	2.37:g.27259437C>T	ENSP00000238788:p.Ala268Val					TMEM214_ENST00000404032.3_Missense_Mutation_p.A223V	p.A268V	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN			6	865	+			268					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.803C>T	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.596|9.596	1.127379|1.127379	0.20959|0.20959	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397|ENST00000425720	T;T|.	0.42131|.	0.98;0.98|.	5.55|5.55	2.24|2.24	0.28232|0.28232	.|.	0.863457|.	0.10873|.	N|.	0.624759|.	T|T	0.23846|0.23846	0.0577|0.0577	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.12837|.	0.006;0.008|.	T|T	0.23297|0.23297	-1.0192|-1.0192	10|5	0.22706|.	T|.	0.39|.	-0.0745|-0.0745	9.7642|9.7642	0.40550|0.40550	0.0:0.7292:0.1201:0.1507|0.0:0.7292:0.1201:0.1507	.|.	223;268|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	V|S	268;223;10|27	ENSP00000238788:A268V;ENSP00000384417:A223V|.	ENSP00000238788:A268V|.	A|P	+|+	2|1	0|0	TMEM214|TMEM214	27112941|27112941	0.001000|0.001000	0.12720|0.12720	0.400000|0.400000	0.26346|0.26346	0.988000|0.988000	0.76386|0.76386	1.447000|1.447000	0.35101|0.35101	0.687000|0.687000	0.31509|0.31509	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727		6	717	0	0	0	1	0	6	717					T	27259437	C	T	27259437	3	4	88	1	0	0	0	0	1	0	0	0	16189	739	26	2	825	2	TMEM214	2	27259437	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		27259437	215939936	26	33186											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		9	554						9	554	---	---	---	---	-	39095413	CCA	-	39095411	7	5	88	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-IB-A6UF-01A-23D-A33T-08	11835974	39095411	204103962	27	33187											
SNRNP200	23020	broad.mit.edu	37	chr2	96967391	96967391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttcgcctttccttgtcccGcagcttttcattctttagaa	5	13	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:96967391G>A	ENST00000323853.5	-	4	522	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R149W	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	149					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						TCCTTGTCCCGCAGCTTTTCA	0.463																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(445-447)Cgg>Tgg		small nuclear ribonucleoprotein 200kDa (U5)							168	158	161					2																	96967391		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96967391G>A	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.445C>T	2.37:g.96967391G>A	ENSP00000317123:p.Arg149Trp					SNRNP200_ENST00000349783.5_Missense_Mutation_p.R149W	p.R149W	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			4	522	-			149					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.445C>T	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994162	0.74703	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.46819	0.86;0.86	5.58	5.58	0.84498	.	0.120859	0.53938	D	0.000047	T	0.59128	0.2171	M	0.62088	1.915	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.63337	-0.6660	10	0.87932	D	0	-16.1737	18.3443	0.90315	0.0:0.0:1.0:0.0	.	149	O75643	U520_HUMAN	W	149	ENSP00000317123:R149W;ENSP00000326937:R149W	ENSP00000317123:R149W	R	-	1	2	SNRNP200	96331118	1.000000	0.71417	0.985000	0.45067	0.868000	0.49771	3.196000	0.51020	2.636000	0.89361	0.455000	0.32223	CGG		0.463	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		7	669	0	0	0	1	0	7	669					A	96967391	G	A	96967391	3	1	88	1	0	0	0	0	1	0	0	0	14902	1086	38	1	6133	1	SNRNP200	2	96967391	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	57871980	96967391	146231982	28	33188											
UNC50	25972	broad.mit.edu	37	chr2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcggcaagacacacagccGgagcgaaacgctacaaatat	10	11	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:99226304G>A	ENST00000357765.2	+	2	234	c.82G>A	c.(82-84)Gga>Aga	p.G28R	COA5_ENST00000409997.1_5'Flank|COA5_ENST00000328709.3_5'Flank|COA5_ENST00000483527.1_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.G45R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483																																						ENST00000409975.1																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						c.(133-135)Gga>Aga		unc-50 homolog (C. elegans)							168	168	168					2																	99226304		2203	4300	6503	SO:0001583	missense	25972				protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	g.chr2:99226304G>A		CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.82G>A	2.37:g.99226304G>A	ENSP00000350409:p.Gly28Arg					UNC50_ENST00000357765.2_Missense_Mutation_p.G28R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R	p.G45R			Q53HI1	UNC50_HUMAN			1	1263	+			28					D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	ENST00000357765.2	37	c.133G>A	CCDS2035.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111883	0.94339	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.55309	-0.8161	9	0.13853	T	0.58	-9.4319	18.0646	0.89387	0.0:0.0:1.0:0.0	.	28	Q53HI1	UNC50_HUMAN	R	28;45;45	.	ENSP00000350409:G28R	G	+	1	0	UNC50	98592736	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.343000	0.79319	2.505000	0.84491	0.591000	0.81541	GGA		0.483	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	NM_014044		5	889	0	0	0	1	0	5	889					A	99226304	G	A	99226304	3	1	88	1	0	0	0	0	1	0	0	0	17044	1117	39	1	84	1	UNC50	2	99226304	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2258913	99226304	143973069	29	33189											
RANBP2	5903	broad.mit.edu	37	chr2	109371669	109371669	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acctcgatgggcagaagatcAgaattctttactgaaaatga	9	7	2	5			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:109371669A>G	ENST00000283195.6	+	17	2546	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	807					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						GCAGAAGATCAGAATTCTTTA	0.333																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2419-2421)cAg>cGg		RAN binding protein 2							148	169	162					2																	109371669		2201	4299	6500	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371669A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2420A>G	2.37:g.109371669A>G	ENSP00000283195:p.Gln807Arg						p.Q807R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2546	+			807					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2420A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.65	3.182482	0.57800	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25749	1.78	5.8	5.8	0.92144	.	.	.	.	.	T	0.30634	0.0771	L	0.36672	1.1	0.37082	D	0.89904	P	0.52463	0.953	P	0.50109	0.631	T	0.11251	-1.0595	9	0.30854	T	0.27	-7.4262	16.1496	0.81605	1.0:0.0:0.0:0.0	.	807	P49792	RBP2_HUMAN	R	807	ENSP00000283195:Q807R	ENSP00000283195:Q807R	Q	+	2	0	RANBP2	108738101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.048000	0.89442	2.210000	0.71456	0.443000	0.29094	CAG		0.333	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		12	1045	0	0	0	1	0	12	1045					G	109371669	A	G	109371669	3	3	88	1	0	0	0	0	1	0	0	0	13078	188	7	4	2486	4	RANBP2	2	109371669	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	10145365	109371669	133827704	30	33190											
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|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						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		11	989	0	0	0	1	0	11	989					T	109371685	A	T	109371685	3	4	88	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	16	109371685	133827688	31	33191											
LYPD6B	130576	broad.mit.edu	37	chr2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acactaatgcagtgtttgccGtaatgcacgctcagagaaca	9	10	1	1	rs373317284		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:150071135G>A	ENST00000409029.1	+	7	665	c.463G>A	c.(463-465)Gta>Ata	p.V155I	LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000409642.3_Missense_Mutation_p.V179I			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	155						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(535-537)Gta>Ata		LY6/PLAUR domain containing 6B		G	ILE/VAL	0,4126		0,0,2063	176	176	176		535	0.9	0	2		176	1,8403		0,1,4201	no	missense	LYPD6B	NM_177964.3	29	0,1,6264	AA,AG,GG		0.0119,0.0,0.0080	benign	179/208	150071135	1,12529	2063	4202	6265	SO:0001583	missense	130576					anchored to membrane|plasma membrane		g.chr2:150071135G>A		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"cancer/testis antigen 116"					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.463G>A	2.37:g.150071135G>A	ENSP00000386650:p.Val155Ile					LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I	p.V179I	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			7	936	+			155					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.535G>A		.	.	.	.	.	.	.	.	.	.	G	10.06	1.245572	0.22796	0.0	1.19E-4	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.78	0.937	0.19494	.	0.357652	0.26983	N	0.021502	T	0.11922	0.0290	L	0.35723	1.085	0.09310	N	1	B;B	0.21821	0.035;0.061	B;B	0.16722	0.01;0.016	T	0.28586	-1.0039	9	.	.	.	-22.7644	10.208	0.43124	0.3397:0.0:0.6603:0.0	.	155;179	Q8NI32;Q8NI32-2	LPD6B_HUMAN;.	I	179;155;155;179	ENSP00000387077:V179I;ENSP00000386479:V155I;ENSP00000386650:V155I;ENSP00000280115:V179I	.	V	+	1	0	LYPD6B	149779381	0.832000	0.29368	0.002000	0.10522	0.186000	0.23388	1.506000	0.35747	0.113000	0.18004	-1.871000	0.00553	GTA		0.483	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		5	724	0	0	0	1	0	5	724					A	150071135	G	A	150071135	3	1	88	1	0	0	0	0	1	0	0	0	9154	1145	40	1	557	1	LYPD6B	2	150071135	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	40699450	150071135	93128238	32	33192											
LRP2	4036	broad.mit.edu	37	chr2	170044768	170044768	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaccacagtcattgtgccGgtcacacctgtatcatgaga	9	12	4	1	rs142093111	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:170044768G>A	ENST00000263816.3	-	49	9325	c.9040C>T	c.(9040-9042)Cgg>Tgg	p.R3014W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3014	LDL-receptor class A 23. {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)"	TCATTGTGCCGGTCACACCTG	0.468																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(9040-9042)Cgg>Tgg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G	TRP/ARG	0,4406		0,0,2203	103	104	104		9040	-1.3	0.1	2	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LRP2	NM_004525.2	101	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	3014/4656	170044768	3,13003	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170044768G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9040C>T	2.37:g.170044768G>A	ENSP00000263816:p.Arg3014Trp						p.R3014W	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	49	9325	-			3014			LDL-receptor class A 23.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9040C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004957	0.35415	0.0	3.49E-4	ENSG00000081479	ENST00000263816	D	0.95588	-3.75	5.68	-1.28	0.09318	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.158354	0.53938	N	0.000058	D	0.91331	0.7266	M	0.74881	2.28	0.80722	D	1	P	0.35307	0.494	B	0.27608	0.081	T	0.83269	-0.0044	10	0.44086	T	0.13	.	5.5847	0.17267	0.2891:0.0:0.3935:0.3174	.	3014	P98164	LRP2_HUMAN	W	3014	ENSP00000263816:R3014W	ENSP00000263816:R3014W	R	-	1	2	LRP2	169753014	1.000000	0.71417	0.145000	0.22337	0.574000	0.36063	1.361000	0.34136	-0.131000	0.11578	0.650000	0.86243	CGG		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	342	0	0	0	1	0	5	342					A	170044768	G	A	170044768	3	1	88	1	0	0	0	0	1	0	0	0	8994	1115	39	1	5051	1	LRP2	2	170044768	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	19973633	170044768	73154605	33	33193											
HOXD10	3236	broad.mit.edu	37	chr2	176981813	176981813	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtagacagttggacagatccGaacagatcttgtcgaataga	11	7	1	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:176981813G>A	ENST00000249501.4	+	1	507	c.252G>A	c.(250-252)ccG>ccA	p.P84P	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	84					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)		GGACAGATCCGAACAGATCTT	0.453																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(250-252)ccG>ccA		homeobox D10							103	99	100					2																	176981813		2203	4300	6503	SO:0001819	synonymous_variant	3236					nucleus	sequence-specific DNA binding	g.chr2:176981813G>A		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.252G>A	2.37:g.176981813G>A						HOXD10_ENST00000490088.2_Intron	p.P84P	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	507	+			84					Q6NT10	Silent	SNP	ENST00000249501.4	37	c.252G>A	CCDS2266.1																																																																																				0.453	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			88	297	0	0	0	1	0	88	297					A	176981813	G	A	176981813	2	1	88	1	0	0	0	0	0	0	0	1	7349	1045	37	1		1	HOXD10	2	176981813	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6937045	176981813	66217560	34	33194											
CXCR2	3579	broad.mit.edu	37	chr2	219000390	219000390	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagacctgtgagcgccGcaatcacatcgaccgggctc	12	15	1	2	rs186640530		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:219000390G>A	ENST00000318507.2	+	3	1293	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	289					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						TGTGAGCGCCGCAATCACATC	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19234	0.001		0.0	False		,,,				2504	0.0					ENST00000318507.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						c.(865-867)cGc>cAc		chemokine (C-X-C motif) receptor 2							83	78	79					2																	219000390		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000390G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.866G>A	2.37:g.219000390G>A	ENSP00000319635:p.Arg289His						p.R289H	NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN			3	1293	+			289					Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.866G>A	CCDS2408.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.03	2.114961	0.37339	.	.	ENSG00000180871	ENST00000318507	T	0.37411	1.2	5.36	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.057955	0.64402	D	0.000006	T	0.48502	0.1503	M	0.70108	2.13	0.09310	N	0.999998	P	0.38767	0.646	P	0.50231	0.635	T	0.40440	-0.9563	9	.	.	.	.	9.7981	0.40748	0.1635:0.0:0.8365:0.0	.	289	P25025	CXCR2_HUMAN	H	289	ENSP00000319635:R289H	.	R	+	2	0	CXCR2	218708635	0.930000	0.31532	0.358000	0.25811	0.045000	0.14185	3.615000	0.54167	1.243000	0.43853	0.456000	0.33151	CGC		0.597	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		5	547	0	0	0	1	0	5	547					A	219000390	G	A	219000390	3	1	88	1	0	0	0	0	1	0	0	0	4102	1087	38	1	868	1	CXCR2	2	219000390	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	42018577	219000390	24198983	35	33195											
STK16	8576	broad.mit.edu	37	chr2	220113194	220113194	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgatgaccgtggacccGcatcagcgtcctcacattcc	9	15	2	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:220113194G>A	ENST00000409638.3	+	8	1003	c.831G>A	c.(829-831)ccG>ccA	p.P277P	TUBA4A_ENST00000498660.1_5'Flank|STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409516.3_Silent_p.P159P|STK16_ENST00000409743.1_Silent_p.P245P|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409260.1_Silent_p.P322P|GLB1L_ENST00000295759.7_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs35454203). {ECO:0000269|PubMed:17344846}.		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)		CCGTGGACCCGCATCAGCGTC	0.567																																					Pancreas(34;887 922 17165 36961 39622)	ENST00000409638.3																			0				skin(1)	1						c.(829-831)ccG>ccA		serine/threonine kinase 16							106	113	111					2																	220113194		2073	4207	6280	SO:0001819	synonymous_variant	8576				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:220113194G>A	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.831G>A	2.37:g.220113194G>A						STK16_ENST00000409260.1_Silent_p.P322P|STK16_ENST00000396738.2_Silent_p.P277P|STK16_ENST00000409516.3_Silent_p.P159P|STK16_ENST00000409743.1_Silent_p.P245P	p.P277P	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1003	+		Renal(207;0.0474)	277		P -> L (in dbSNP:rs35454203).	Protein kinase.		A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Silent	SNP	ENST00000409638.3	37	c.831G>A	CCDS42822.1																																																																																				0.567	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1			6	622	0	0	0	1	0	6	622					A	220113194	G	A	220113194	2	1	88	1	0	0	0	0	0	0	0	1	15341	1074	38	1		1	STK16	2	220113194	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1112804	220113194	23086179	36	33196											
SLC4A3	6508	broad.mit.edu	37	chr2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-													ctggcccccatccttcgcagGaagaagaagaagaaaaagct					rs557843124	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)aggaag>agg	p.K313del	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_In_Frame_Del_p.K340del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.K313del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.K313del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.K340del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	313	Poly-Lys.				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)		TCCTTCGCAGGAAGAAGAAGAAG	0.65														5	0.000998403	0.0	0.0058	5008	,	,		20005	0.001		0.0	False		,,,				2504	0.0					ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(919-924)agg>ag		solute carrier family 4 (anion exchanger), member 3			,	46,4208		1,44,2082					,	3.4	1			35	90,8146		2,86,4030	no	coding,coding	SLC4A3	NM_201574.2,NM_005070.3	,	3,130,6112	A1A1,A1R,RR		1.0928,1.0813,1.0889	,	,		136,12354				SO:0001651	inframe_deletion	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220496799_220496801delGAA		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.921_923delGAA	2.37:g.220496808_220496810delGAA	ENSP00000350756:p.Lys313del					SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del|SLC4A3_ENST00000497589.1_3'UTR	p.RK307del			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1433_1435	+		Renal(207;0.0183)	307					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	In_Frame_Del	DEL	ENST00000358055.3	37	c.921_923delGAA	CCDS2445.1																																																																																				0.65	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		12	394						12	394	---	---	---	---	-	220496801	GAA	-	220496799	7	5	88	1	0	1	0	1	0	0	0	0	14705	1165	41	0	1024	0	SLC4A3	2	220496799	In_Frame_Del	DEL	GAA	TCGA-IB-A6UF-01A-23D-A33T-08	383605	220496799	22702574	37	33197											
DOCK10	55619	broad.mit.edu	37	chr2	225729790	225729790	+	Frame_Shift_Del	DEL	A	A	-													tcataaagtgccacactcacAaaaaaaggctcaatctgcat							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:225729790delA	ENST00000258390.7	-	12	1339	c.1272delT	c.(1270-1272)tttfs	p.F424fs	DOCK10_ENST00000409592.3_Frame_Shift_Del_p.F418fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	424					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)		CCACACTCACAAAAAAAGGCT	0.398																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1252-1254)ttfs		dedicator of cytokinesis 10							89	86	87					2																	225729790		1897	4124	6021	SO:0001589	frameshift_variant	55619						GTP binding	g.chr2:225729790delA	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.1272delT	2.37:g.225729790delA	ENSP00000258390:p.Phe424fs					DOCK10_ENST00000258390.7_Frame_Shift_Del_p.F424fs	p.F418fs			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	12	1367	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	424					B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Del	DEL	ENST00000258390.7	37	c.1254delT	CCDS46528.1																																																																																				0.398	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	521						7	521	---	---	---	---	-	225729790	A	-	225729790	7	5	88	1	0	1	0	1	0	0	0	0	4701	127	5	0	5468	0	DOCK10	2	225729790	Frame_Shift_Del	DEL	A	TCGA-IB-A6UF-01A-23D-A33T-08	5232991	225729790	17469583	38	33198											
KIAA1486	57624	broad.mit.edu	37	chr2	226446914	226446914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagacttcaggaaggaggacGatgaccagagcgaggccgtc	16	9	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:226446914G>A	ENST00000272907.6	+	4	1194	c.781G>A	c.(781-783)Gat>Aat	p.D261N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	261					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAAGGAGGACGATGACCAGAG	0.562																																						ENST00000272907.6																			0											c.(781-783)Gat>Aat		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							125	133	131					2																	226446914		2057	4189	6246	SO:0001583	missense	57624							g.chr2:226446914G>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.781G>A	2.37:g.226446914G>A	ENSP00000272907:p.Asp261Asn					NYAP2_ENST00000409269.2_Intron	p.D261N	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1194	+			261					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.781G>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.836295	0.91117	.	.	ENSG00000144460	ENST00000272907	T	0.43294	0.95	5.94	5.94	0.96194	.	0.163089	0.52532	D	0.000071	T	0.46964	0.1420	M	0.66939	2.045	0.80722	D	1	D	0.54047	0.964	B	0.42361	0.385	T	0.39722	-0.9600	10	0.27082	T	0.32	-21.5988	20.3736	0.98901	0.0:0.0:1.0:0.0	.	261	Q9P242	K1486_HUMAN	N	261	ENSP00000272907:D261N	ENSP00000272907:D261N	D	+	1	0	KIAA1486	226155158	1.000000	0.71417	0.965000	0.40720	0.977000	0.68977	7.639000	0.83342	2.820000	0.97059	0.650000	0.86243	GAT		0.562	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		190	488	0	0	0	1	0	190	488					A	226446914	G	A	226446914	3	1	88	1	0	0	0	0	1	0	0	0	8267	1058	37	1	791	1	KIAA1486	2	226446914	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	717124	226446914	16752459	39	33199											
SAG	6295	broad.mit.edu	37	chr2	234237147	234237147	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgtgcgattactgatccGcaaagtacagcatgccccac	8	15	0	1	rs201978529		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:234237147G>A	ENST00000409110.1	+	8	766	c.536G>A	c.(535-537)cGc>cAc	p.R179H	SAG_ENST00000449594.2_Missense_Mutation_p.R45H	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	179					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TTACTGATCCGCAAAGTACAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19420	0.0		0.001	False		,,,				2504	0.0					ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(535-537)cGc>cAc		S-antigen; retina and pineal gland (arrestin)		G	HIS/ARG	0,3988		0,0,1994	171	150	157		536	4.2	1	2		157	1,8335		0,1,4167	no	missense	SAG	NM_000541.4	29	0,1,6161	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	179/406	234237147	1,12323	1994	4168	6162	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237147G>A		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.536G>A	2.37:g.234237147G>A	ENSP00000386444:p.Arg179His					SAG_ENST00000449594.2_Missense_Mutation_p.R45H	p.R179H	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	766	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	179					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.536G>A	CCDS46545.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.3	3.967692	0.74131	0.0	1.2E-4	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.26660	1.72;1.72	4.18	4.18	0.49190	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67900	0.731;0.954	T	0.71573	-0.4552	10	0.87932	D	0	-6.7464	17.0843	0.86606	0.0:0.0:1.0:0.0	.	45;179	B7Z7L5;P10523	.;ARRS_HUMAN	H	179;179;45	ENSP00000386444:R179H;ENSP00000392889:R45H	ENSP00000252857:R179H	R	+	2	0	SAG	233901886	1.000000	0.71417	0.962000	0.40283	0.213000	0.24496	9.551000	0.98112	2.337000	0.79520	0.650000	0.86243	CGC		0.602	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		6	638	0	0	0	1	0	6	638					A	234237147	G	A	234237147	3	1	88	1	0	0	0	0	1	0	0	0	13858	1087	38	1	562	1	SAG	2	234237147	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7790233	234237147	8962226	40	33200											
PPP1R7	5510	broad.mit.edu	37	chr2	242098641	242098641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccagactctctgcctccGccaaaatttaattaaatgca	4	15	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr2:242098641G>A	ENST00000234038.6	+	5	791	c.317G>A	c.(316-318)cGc>cAc	p.R106H	PPP1R7_ENST00000404405.3_Missense_Mutation_p.R100H|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000406106.3_Missense_Mutation_p.R106H|PPP1R7_ENST00000407025.1_Missense_Mutation_p.R106H|PPP1R7_ENST00000401987.1_Missense_Mutation_p.R63H|PPP1R7_ENST00000272983.8_Missense_Mutation_p.R63H|PPP1R7_ENST00000402734.1_Missense_Mutation_p.R47H	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	106					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CTCTGCCTCCGCCAAAATTTA	0.493																																					NSCLC(62;446 1299 5417 11238 27640)	ENST00000234038.6																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23						c.(316-318)cGc>cAc		protein phosphatase 1, regulatory subunit 7							155	175	168					2																	242098641		2203	4300	6503	SO:0001583	missense	5510					cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity	g.chr2:242098641G>A	AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.317G>A	2.37:g.242098641G>A	ENSP00000234038:p.Arg106His					PPP1R7_ENST00000402734.1_Missense_Mutation_p.R47H|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.R63H|PPP1R7_ENST00000272983.8_Missense_Mutation_p.R63H|PPP1R7_ENST00000404405.3_Missense_Mutation_p.R100H|PPP1R7_ENST00000407025.1_Missense_Mutation_p.R106H|PPP1R7_ENST00000406106.3_Missense_Mutation_p.R106H	p.R106H	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)	5	791	+		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	106					B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	c.317G>A	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.574137|5.574137	0.96553|0.96553	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000450367|ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987;ENST00000427172	.|T;T;T;T;T;T;T;T;T;T;T	.|0.25579	.|1.79;1.79;1.79;1.79;1.79;1.79;2.21;2.8;1.79;1.79;1.85	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56891|0.56891	0.2016|0.2016	M|M	0.80616|0.80616	2.505|2.505	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	.|0.999;0.999;0.999;0.998;0.998;0.999	T|T	0.60495|0.60495	-0.7252|-0.7252	5|10	.|0.87932	.|D	.|0	-6.7874|-6.7874	19.7405|19.7405	0.96228|0.96228	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|90;47;63;106;106;100	.|C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8	.|.;.;.;PP1R7_HUMAN;.;.	T|H	81|90;47;47;106;63;106;100;112;106;63;115	.|ENSP00000396376:R90H;ENSP00000385012:R47H;ENSP00000412092:R47H;ENSP00000385657:R106H;ENSP00000272983:R63H;ENSP00000234038:R106H;ENSP00000385498:R100H;ENSP00000409719:R112H;ENSP00000385022:R106H;ENSP00000385466:R63H;ENSP00000397985:R115H	.|ENSP00000234038:R106H	A|R	+|+	1|2	0|0	PPP1R7|PPP1R7	241747314|241747314	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	9.060000|9.060000	0.93907|0.93907	2.655000|2.655000	0.90218|0.90218	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.493	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4	NM_002712		9	1304	0	0	0	1	0	9	1304					A	242098641	G	A	242098641	3	1	88	1	0	0	0	0	1	0	0	0	12423	1087	38	1	335	1	PPP1R7	2	242098641	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7861494	242098641	1100732	41	33201											
LHFPL4	375323	broad.mit.edu	37	chr3	9547694	9547694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagcaggtctgtttgCcggttgcccagcacgaaggc	13	13	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:9547694C>T	ENST00000287585.6	-	3	885	c.600G>A	c.(598-600)cgG>cgA	p.R200R		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	213						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGTCTGTTTGCCGGTTGCCCA	0.657																																						ENST00000287585.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10						c.(598-600)cgG>cgA		lipoma HMGIC fusion partner-like 4							109	94	99					3																	9547694		2203	4300	6503	SO:0001819	synonymous_variant	375323					integral to membrane		g.chr3:9547694C>T	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.600G>A	3.37:g.9547694C>T							p.R200R	NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN			3	885	-	Medulloblastoma(99;0.227)		200					A1L383|A4D0Q5	Silent	SNP	ENST00000287585.6	37	c.600G>A	CCDS33691.1																																																																																				0.657	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		6	745	0	0	0	1	0	6	745					T	9547694	C	T	9547694	2	4	88	1	0	0	0	0	0	0	0	1	8799	726	26	2		2	LHFPL4	3	9547694	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		9547694	188474736	42	33202											
TATDN2	9797	broad.mit.edu	37	chr3	10291121	10291123	+	In_Frame_Del	DEL	CTC	CTC	-													tcatcccgccgcagaaataaCtcctcctcctccttctcccc					rs377423264		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:10291121_10291123delCTC	ENST00000287652.4	+	2	1288_1290	c.237_239delCTC	c.(235-240)aactcc>aac	p.S83del	RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.S26del|TATDN2_ENST00000448281.2_In_Frame_Del_p.S83del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	83					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						GCAGAAATAACTCCTCCTCCTCC	0.635																																						ENST00000287652.4																			0				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						c.(235-240)aac>aa		TatD DNase domain containing 2																																				SO:0001651	inframe_deletion	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10291121_10291123delCTC	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.237_239delCTC	3.37:g.10291130_10291132delCTC	ENSP00000287652:p.Ser83del					RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.NS22del|TATDN2_ENST00000448281.2_In_Frame_Del_p.NS79del	p.NS79del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			2	1288_1290	+			79					Q3MIL9|Q5BKU0	In_Frame_Del	DEL	ENST00000287652.4	37	c.237_239delCTC	CCDS33698.1																																																																																				0.635	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	1545						7	1545	---	---	---	---	-	10291123	CTC	-	10291121	7	5	88	1	0	1	0	1	0	0	0	0	15644	564	20	0	239	0	TATDN2	3	10291121	In_Frame_Del	DEL	CTC	TCGA-IB-A6UF-01A-23D-A33T-08	743427	10291121	187731309	43	33203											
TMEM40	55287	broad.mit.edu	37	chr3	12790156	12790158	+	In_Frame_Del	DEL	GAG	GAG	-													tttaaatctctgctatacctGaggaggaggaggatgaagaa							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:12790156_12790158delGAG	ENST00000314124.7	-	3	563_565	c.207_209delCTC	c.(205-210)tcctca>tca	p.69_70SS>S	TMEM40_ENST00000435218.2_In_Frame_Del_p.69_70SS>S|TMEM40_ENST00000264728.8_In_Frame_Del_p.69_70SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.85_86SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	69	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTATACCTgaggaggaggagg	0.394																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(205-210)tca>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790156_12790158delGAG	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.207_209delCTC	3.37:g.12790165_12790167delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	563_565	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.207_209delCTC	CCDS2613.1																																																																																				0.394	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		9	765						9	765	---	---	---	---	-	12790158	GAG	-	12790156	7	5	88	1	0	1	0	1	0	0	0	0	16215	1294	45	0	532	0	TMEM40	3	12790156	In_Frame_Del	DEL	GAG	TCGA-IB-A6UF-01A-23D-A33T-08	2499035	12790156	185232274	44	33204											
GRIP2	80852	broad.mit.edu	37	chr3	14555277	14555277	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcggtggcaatgccaTtgatggacaggacacggtcc	13	12	0	1	rs199608684	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:14555277T>C	ENST00000273083.3	-	0	1599							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						GGCAATGCCATTGATGGACAG	0.637													T|||	3	0.000599042	0.0	0.0029	5008	,	,		17820	0.0		0.001	False		,,,				2504	0.0					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2		T	SER/ASN	0,4180		0,0,2090	35	41	39		1825	4.6	1	3		39	4,8426		0,4,4211	yes	missense	GRIP2	NM_001080423.2	46	0,4,6301	CC,CT,TT		0.0474,0.0,0.0317	probably-damaging	609/1141	14555277	4,12606	2090	4215	6305			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555277T>C	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.14555277T>C										Q9C0E4	GRIP2_HUMAN			0	1599	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.637	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	132	0	0	0	1	0	4	132					C	14555277	T	C	14555277	1	2	88	0	1	0	0	0	0	0	0	0	6818	1493	52	4		4	GRIP2	3	14555277	RNA	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	1765121	14555277	183467153	45	33205											
SCN11A	11280	broad.mit.edu	37	chr3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattccccgcagaggatgcGgaataccactaggaaggagt	12	11	0	1	rs537371340		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:38938452G>A	ENST00000302328.3	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGAGGATGCGGAATACCACT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		16955	0.0		0.0	False		,,,				2504	0.001					ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2287-2289)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						125	113	117					3																	38938452		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938452G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2287C>T	3.37:g.38938452G>A	ENSP00000307599:p.Arg763Cys					SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C	p.R763C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2485	-			763					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2287C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468244	0.96274	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98760	1.0724	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	763	Q9UI33	SCNBA_HUMAN	C	763	ENSP00000307599:R763C;ENSP00000400945:R763C;ENSP00000416757:R763C;ENSP00000408028:R763C	ENSP00000307599:R763C	R	-	1	0	SCN11A	38913456	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.812000	0.86109	2.827000	0.97445	0.650000	0.86243	CGC		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		96	231	0	0	0	1	0	96	231					A	38938452	G	A	38938452	3	1	88	1	0	0	0	0	1	0	0	0	13963	1116	39	1	3140	1	SCN11A	3	38938452	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	24383175	38938452	159083978	46	33206											
LIMD1	8994	broad.mit.edu	37	chr3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-													agatggccaaaatccacctcCagcagcagcagcagcagctc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|AC099539.1_ENST00000516118.1_RNA	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				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)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	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.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		8	300						8	300	---	---	---	---	-	45636545	CAG	-	45636543	7	5	88	1	0	1	0	1	0	0	0	0	8830	595	21	0	174	0	LIMD1	3	45636543	In_Frame_Del	DEL	CAG	TCGA-IB-A6UF-01A-23D-A33T-08	6698091	45636543	152385887	47	33207											
CCR2	729230	broad.mit.edu	37	chr3	46401296	46401296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctcgatggtcgtggaaaagGaaagtcaattggcagagccc	13	9	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:46401296G>A	ENST00000400888.2	+	2	1109	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	CCR2_ENST00000292301.4_Missense_Mutation_p.G357E			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	357					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)		CGTGGAAAAGGAAAGTCAATT	0.493																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(1069-1071)gGa>gAa		chemokine (C-C motif) receptor 2							102	93	96					3																	46401296		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46401296G>A		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.1070G>A	3.37:g.46401296G>A	ENSP00000383681:p.Gly357Glu					CCR2_ENST00000400888.2_Missense_Mutation_p.G357E	p.G357E	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	3	1555	+			357					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.1070G>A	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	9.639	1.138456	0.21123	.	.	ENSG00000121807	ENST00000292301;ENST00000400888	T;T	0.68765	-0.35;-0.35	3.45	-1.8	0.07907	.	2.790660	0.01671	N	0.025619	T	0.43678	0.1258	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.27887	0.084	T	0.19516	-1.0303	10	0.22109	T	0.4	.	4.2507	0.10693	0.3066:0.3232:0.3702:0.0	.	357	P41597	CCR2_HUMAN	E	357	ENSP00000292301:G357E;ENSP00000383681:G357E	ENSP00000292301:G357E	G	+	2	0	CCR2	46376300	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.258000	0.08733	-0.422000	0.07405	-0.156000	0.13503	GGA		0.493	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		6	437	0	0	0	1	0	6	437					A	46401296	G	A	46401296	3	1	88	1	0	0	0	0	1	0	0	0	2950	1174	41	2	1218	2	CCR2	3	46401296	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	764753	46401296	151621134	48	33208											
MST1	327	broad.mit.edu	37	chr3	49723304	49723304	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	16	13	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:49723304C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Silent_p.P413P|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1237-1239)ccG>ccA		macrophage stimulating 1 (hepatocyte growth factor-like)							56	53	54					3																	49723304		2194	4278	6472	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723304C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723304C>T						MST1_ENST00000383728.3_3'UTR	p.P413P	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1600	-			399			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1239G>A	CCDS2801.1																																																																																				0.682	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			6	840	0	0	0	1	0	6	840					T	49723304	C	T	49723304	1	4	88	0	1	0	0	0	0	0	0	0	9931	755	27	1		1	MST1	3	49723304	IGR	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	3322008	49723304	148299126	49	33209											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	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		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		12	580						12	580	---	---	---	---	-	53529195	GAT	-	53529193	7	5	88	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-IB-A6UF-01A-23D-A33T-08	3805889	53529193	144493237	50	33210											
ZBTB20	26137	broad.mit.edu	37	chr3	114069198	114069198	+	Frame_Shift_Del	DEL	T	T	-													agagagtgcactcataaggcTttttttcgccttgcccactg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:114069198delT	ENST00000474710.1	-	4	1905	c.1727delA	c.(1726-1728)aagfs	p.K576fs	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.K503fs|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	576						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)		CTCATAAGGCTTTTTTTCGCC	0.577																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1507-1509)agfs		zinc finger and BTB domain containing 20							144	144	144					3																	114069198		2203	4300	6503	SO:0001589	frameshift_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069198delT	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.1727delA	3.37:g.114069198delT	ENSP00000419153:p.Lys576fs					ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.K576fs	p.K503fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	2329	-			576					Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	ENST00000474710.1	37	c.1508delA	CCDS54626.1																																																																																				0.577	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		7	852						7	852	---	---	---	---	-	114069198	T	-	114069198	7	5	88	1	0	1	0	1	0	0	0	0	17582	1609	56	0	506	0	ZBTB20	3	114069198	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	60540005	114069198	83953232	51	33211											
PARP15	165631	broad.mit.edu	37	chr3	122345673	122345673	+	Splice_Site	DEL	G	G	-													gtcattaaatttttttttcaGgaaatgccggaaaaaaccct							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:122345673delG	ENST00000464300.2	+	9	1297		c.e9-1		PARP15_ENST00000465304.1_Splice_Site|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000493645.1_Intron|PARP15_ENST00000310366.4_Splice_Site	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TTTTTTTTCAGGAAATGCCGG	0.373																																						ENST00000464300.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.e9-1		poly (ADP-ribose) polymerase family, member 15							55	53	53					3																	122345673		2203	4300	6503	SO:0001630	splice_region_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122345673delG	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"Poly (ADP-ribose) polymerases"	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1232-1G>-	3.37:g.122345673delG						PARP15_ENST00000465304.1_Splice_Site|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Splice_Site|PARP15_ENST00000493645.1_Intron		NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	9	1297	+								J3KR47|Q8N1K3	Splice_Site	DEL	ENST00000464300.2	37		CCDS46893.1																																																																																				0.373	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615	Intron	55	199						55	199	---	---	---	---	-	122345673	G	-	122345673	8	5	88	1	0	1	0	1	0	0	1	0	11501	1014	35	0	1334	0	PARP15	3	122345673	Splice_Site	DEL	G	TCGA-IB-A6UF-01A-23D-A33T-08	8276475	122345673	75676757	52	33212											
OSBPL11	114885	broad.mit.edu	37	chr3	125298799	125298799	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattacagctcctgcaagctGcaaagttcctctaggtttct	7	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:125298799G>A	ENST00000296220.5	-	3	608	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	107	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CCTGCAAGCTGCAAAGTTCCT	0.403																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(319-321)Cag>Tag		oxysterol binding protein-like 11							115	118	117					3																	125298799		2203	4300	6503	SO:0001587	stop_gained	114885				lipid transport		lipid binding	g.chr3:125298799G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.319C>T	3.37:g.125298799G>A	ENSP00000296220:p.Gln107*						p.Q107*	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			3	608	-			107			PH.		A8K9I7	Nonsense_Mutation	SNP	ENST00000296220.5	37	c.319C>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	40	7.930052	0.98565	.	.	ENSG00000144909	ENST00000296220	.	.	.	5.07	5.07	0.68467	.	0.268957	0.38272	N	0.001758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	13.9553	18.6341	0.91371	0.0:0.0:1.0:0.0	.	.	.	.	X	107	.	ENSP00000296220:Q107X	Q	-	1	0	OSBPL11	126781489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.587000	0.98229	2.628000	0.89032	0.655000	0.94253	CAG		0.403	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		5	532	0	0	0	1	0	5	532					A	125298799	G	A	125298799	4	1	88	1	0	0	0	0	0	1	0	0	11318	1328	46	2	1968	2	OSBPL11	3	125298799	Nonsense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2953126	125298799	72723631	53	33213											
C3orf22	152065	broad.mit.edu	37	chr3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccctggacagccctgccGccttgctggtctgggggcag	16	15	1	0	rs373190783		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627																																						ENST00000318225.2																			0				large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7						c.(397-399)gCg>gTg		chromosome 3 open reading frame 22		G	VAL/ALA	0,4406		0,0,2203	55	53	54		398	-0.5	0	3		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf22	NM_152533.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	133/142	126268739	1,13005	2203	4300	6503	SO:0001583	missense	152065							g.chr3:126268739G>A		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.398C>T	3.37:g.126268739G>A	ENSP00000316644:p.Ala133Val						p.A133V	NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	4	776	-			133					B3KUS9	Missense_Mutation	SNP	ENST00000318225.2	37	c.398C>T	CCDS3040.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228530	0.39399	0.0	1.16E-4	ENSG00000180697	ENST00000318225	.	.	.	1.92	-0.536	0.11876	.	.	.	.	.	T	0.09818	0.0241	N	0.19112	0.55	0.09310	N	1	P	0.41188	0.741	B	0.25405	0.06	T	0.22730	-1.0208	8	0.02654	T	1	6.4871	4.5161	0.11935	0.4702:0.0:0.5298:0.0	.	133	Q8N5N4	CC022_HUMAN	V	133	.	ENSP00000316644:A133V	A	-	2	0	C3orf22	127751429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.292000	0.08332	-0.154000	0.11118	0.313000	0.20887	GCG		0.627	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2	NM_152533		82	174	0	0	0	1	0	82	174					A	126268739	G	A	126268739	3	1	88	1	0	0	0	0	1	0	0	0	2222	1087	38	1	31	1	C3orf22	3	126268739	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	969940	126268739	71753691	54	33214											
MCM2	4171	broad.mit.edu	37	chr3	127337969	127337969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggcagcgctgctgagcccGccatgcccaacacgtatggc	12	15	0	1	rs147793264		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:127337969G>A	ENST00000265056.7	+	13	2357	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	705					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						TGCTGAGCCCGCCATGCCCAA	0.637																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2113-2115)Gcc>Acc		minichromosome maintenance complex component 2		G	THR/ALA	0,4406		0,0,2203	45	38	40		2113	0.6	0	3	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCM2	NM_004526.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	705/905	127337969	1,13005	2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127337969G>A	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.2113G>A	3.37:g.127337969G>A	ENSP00000265056:p.Ala705Thr					MCM2_ENST00000468414.1_3'UTR	p.A705T	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			13	2357	+			705					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2113G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517936	0.04171	0.0	1.16E-4	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02421	4.3	5.61	0.559	0.17272	.	1.165010	0.06316	N	0.703534	T	0.01976	0.0062	N	0.05467	-0.045	0.19300	N	0.999978	B;B;B	0.14012	0.001;0.009;0.008	B;B;B	0.16289	0.002;0.015;0.009	T	0.50065	-0.8871	10	0.15066	T	0.55	-10.4948	10.4606	0.44577	0.4466:0.0:0.5534:0.0	.	755;575;705	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	T	705;609;755	ENSP00000265056:A705T	ENSP00000265056:A705T	A	+	1	0	MCM2	128820659	0.111000	0.22076	0.014000	0.15608	0.049000	0.14656	0.425000	0.21346	-0.197000	0.10350	-0.964000	0.02622	GCC		0.637	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			4	207	0	0	0	1	0	4	207					A	127337969	G	A	127337969	3	1	88	1	0	0	0	0	1	0	0	0	9427	1087	38	1	2163	1	MCM2	3	127337969	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1069230	127337969	70684461	55	33215											
ASTE1	28990	broad.mit.edu	37	chr3	130744081	130744081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgacaatttttgtgtcccGcaacttcaaatcagtgaaga	7	8	2	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:130744081G>A	ENST00000264992.3	-	3	511	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000511262.1_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.R24W|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000383366.4_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	24					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R24W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTGTGTCCCGCAACTTCAAA	0.403																																						ENST00000264992.3																			1	Substitution - Missense(1)	p.R24W(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(70-72)Cgg>Tgg		asteroid homolog 1 (Drosophila)							97	97	97					3																	130744081		2203	4300	6503	SO:0001583	missense	28990				DNA repair		nuclease activity	g.chr3:130744081G>A	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.70C>T	3.37:g.130744081G>A	ENSP00000264992:p.Arg24Trp					ASTE1_ENST00000514044.1_Missense_Mutation_p.R24W	p.R24W	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	511	-			24					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	ENST00000264992.3	37	c.70C>T	CCDS3068.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562030	0.65538	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270;ENST00000505545;ENST00000504725	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.44	2.22	0.28083	XPG N-terminal (1);	0.048280	0.85682	D	0.000000	T	0.70202	0.3197	M	0.74881	2.28	0.42751	D	0.993773	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74682	-0.3583	10	0.87932	D	0	-23.8367	13.7698	0.63018	0.0:0.0:0.4438:0.5562	.	24;24	D6RG30;Q2TB18	.;ASTE1_HUMAN	W	24	ENSP00000426421:R24W;ENSP00000264992:R24W;ENSP00000425683:R24W;ENSP00000422851:R24W	ENSP00000264992:R24W	R	-	1	2	ASTE1	132226771	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.943000	0.40253	0.599000	0.29845	0.650000	0.86243	CGG		0.403	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		6	721	0	0	0	1	0	6	721					A	130744081	G	A	130744081	3	1	88	1	0	0	0	0	1	0	0	0	1063	1086	38	1	1985	1	ASTE1	3	130744081	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3406112	130744081	67278349	56	33216											
SEC62	7095	broad.mit.edu	37	chr3	169700663	169700664	+	Frame_Shift_Ins	INS	-	-	A													agacaaaaaaagaaaaagagINSaaaaaaaaagatggtgaaaa							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr3:169700663_169700664insA	ENST00000337002.4	+	4	478_479	c.420_421insA	c.(421-423)aaafs	p.K141fs	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K141fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	141					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						aagaaaaagagaaaaaaaaaga	0.277																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(418-423)gaaaaafs		SEC62 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700663_169700664insA	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.429dupA	3.37:g.169700672_169700672dupA	ENSP00000337688:p.Lys141fs					SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA	p.EK140fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	478_479	+			140					D3DNQ0|O00682|O00729	Frame_Shift_Ins	INS	ENST00000337002.4	37	c.420_421insA	CCDS3210.1																																																																																				0.277	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			8	209						8	209	---	---	---	---	A	169700664	-	A	169700663	7	5	88	1	0	1	1	0	0	0	0	0	14054	933	33	0	434	0	SEC62	3	169700663	Frame_Shift_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	38956582	169700663	28321767	57	33217											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						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)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	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.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		8	1112						8	1112	---	---	---	---	-	946207	TG	-	946206	7	5	88	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-IB-A6UF-01A-23D-A33T-08		946206	190208070	58	33218											
LIAS	6133	broad.mit.edu	37	chr4	39462463	39462464	+	5'Flank	INS	-	-	A													cgttaagctccttgccagatINSaaaaaaaaggaactcctaca							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:39462463_39462464insA	ENST00000449470.2	-	0	0				LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Frame_Shift_Ins_p.K34fs|LIAS_ENST00000261434.3_Frame_Shift_Ins_p.K34fs|LIAS_ENST00000381846.1_Frame_Shift_Ins_p.K34fs|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000513731.1_Frame_Shift_Ins_p.K34fs	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CCTTGCCAGATAAAAAAAAGGA	0.391																																						ENST00000261434.3																			1	Deletion - Frameshift(1)	p.K36fs*31(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(97-102)gaaaaafs		lipoic acid synthetase	Lipoic Acid(DB00166)																																			SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462463_39462464insA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462471_39462471dupA	Exception_encountered					LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Ins_p.EK33fs|LIAS_ENST00000381846.1_Frame_Shift_Ins_p.EK33fs|LIAS_ENST00000340169.2_Frame_Shift_Ins_p.EK33fs	p.EK33fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	217_218	+			33						Frame_Shift_Ins	INS	ENST00000449470.2	37	c.99_100insA	CCDS3452.1																																																																																				0.391	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			9	856						9	856	---	---	---	---	A	39462464	-	A	39462463	6	5	88	0	1	1	1	0	0	0	0	0	8810	1403	49	0		0	LIAS	4	39462463	5'Flank	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	38516257	39462463	151691813	59	33219											
CHRNA9	55584	broad.mit.edu	37	chr4	40351422	40351422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcctcagaaaatgtgCccctgataggtgagtccaag	12	11	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:40351422C>T	ENST00000310169.2	+	4	1028	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	297					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)	AGAAAATGTGCCCCTGATAGG	0.498																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(889-891)Ccc>Tcc		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						56	61	59					4																	40351422		2202	4297	6499	SO:0001583	missense	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40351422C>T	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.889C>T	4.37:g.40351422C>T	ENSP00000312663:p.Pro297Ser						p.P297S	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			4	1028	+			297					Q14CY7|Q4W5A2|Q9NYV2	Missense_Mutation	SNP	ENST00000310169.2	37	c.889C>T	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005901	0.74932	.	.	ENSG00000174343	ENST00000310169	D	0.93859	-3.3	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	297	Q9UGM1	ACHA9_HUMAN	S	297	ENSP00000312663:P297S	ENSP00000312663:P297S	P	+	1	0	CHRNA9	40046179	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCC		0.498	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			5	521	0	0	0	1	0	5	521					T	40351422	C	T	40351422	3	4	88	1	0	0	0	0	1	0	0	0	3398	739	26	2	903	2	CHRNA9	4	40351422	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	888959	40351422	150802854	60	33220											
OCIAD2	132299	broad.mit.edu	37	chr4	48894806	48894806	+	Frame_Shift_Del	DEL	A	A	-													aacctgttatgctgtggaccAaaaccagccccacggagctg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:48894806delA	ENST00000508632.1	-	6	598	c.366delT	c.(364-366)tttfs	p.F122fs	OCIAD2_ENST00000273860.4_Intron|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	122						endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GCTGTGGACCAAAACCAGCCC	0.358																																						ENST00000508632.1																			0				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						c.(364-366)ttfs		OCIA domain containing 2							140	147	145					4																	48894806		2203	4300	6503	SO:0001589	frameshift_variant	132299					endosome		g.chr4:48894806delA	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.366delT	4.37:g.48894806delA	ENSP00000423014:p.Phe122fs					OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	p.F122fs	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN			6	598	-			122					B4DPE7|Q8N544	Frame_Shift_Del	DEL	ENST00000508632.1	37	c.366delT	CCDS33981.1																																																																																				0.358	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		7	1231						7	1231	---	---	---	---	-	48894806	A	-	48894806	7	5	88	1	0	1	0	1	0	0	0	0	10860	127	5	0	106	0	OCIAD2	4	48894806	Frame_Shift_Del	DEL	A	TCGA-IB-A6UF-01A-23D-A33T-08	8543384	48894806	142259470	61	33221											
FRAS1	80144	broad.mit.edu	37	chr4	79462159	79462159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagacactactgcactgtgCggaacgtcaacatcctgagt	9	11	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:79462159C>T	ENST00000264895.6	+	74	12360	c.11920C>T	c.(11920-11922)Cgg>Tgg	p.R3974W		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3970					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						CTGCACTGTGCGGAACGTCAA	0.473																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(11920-11922)Cgg>Tgg		Fraser syndrome 1							74	74	74					4																	79462159		1930	4143	6073	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79462159C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11920C>T	4.37:g.79462159C>T	ENSP00000264895:p.Arg3974Trp						p.R3974W	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			74	12360	+			3969					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11920C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.608257|2.608257	0.46527|0.46527	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.51325	.|0.71	6.08|6.08	4.27|4.27	0.50696|0.50696	.|.	.|0.056812	.|0.64402	.|D	.|0.000004	T|T	0.62392|0.62392	0.2424|0.2424	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.66559|0.66559	-0.5893|-0.5893	5|10	.|0.87932	.|D	.|0	.|.	14.4407|14.4407	0.67314|0.67314	0.4855:0.5145:0.0:0.0|0.4855:0.5145:0.0:0.0	.|.	.|3974	.|E9PHH6	.|.	V|W	2202|3974	.|ENSP00000264895:R3974W	.|ENSP00000264895:R3974W	A|R	+|+	2|1	0|2	FRAS1|FRAS1	79681183|79681183	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.071000|0.071000	0.16799|0.16799	2.329000|2.329000	0.43876|0.43876	1.543000|1.543000	0.49345|0.49345	0.591000|0.591000	0.81541|0.81541	GCG|CGG		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	391	0	0	0	1	0	6	391					T	79462159	C	T	79462159	3	4	88	1	0	0	0	0	1	0	0	0	6069	759	27	1	12289	1	FRAS1	4	79462159	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	30567353	79462159	111692117	62	33222											
BMP2K	55589	broad.mit.edu	37	chr4	79792161	79792169	+	In_Frame_Del	DEL	CAGCACCAC	CAGCACCAC	-													agcagcagcagcagcagcagCagcaccaccaccaccaccac					rs202184856|rs200441916|rs2114202	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:79792161_79792169delCAGCACCAC	ENST00000335016.5	+	11	1622_1630	c.1456_1464delCAGCACCAC	c.(1456-1464)cagcaccacdel	p.QHH486del	BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcaccaccaccaccacc	0.488																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1456-1464)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792161_79792169delCAGCACCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1456_1464delCAGCACCAC	4.37:g.79792161_79792169delCAGCACCAC	ENSP00000334836:p.Gln486_His488del					BMP2K_ENST00000502871.1_In_Frame_Del_p.QHH486del	p.QHH486del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1622_1630	+			486	Missing (in Ref. 2; CAB70863).	Q -> H (in dbSNP:rs2114202).	Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1456_1464delCAGCACCAC	CCDS47083.1																																																																																				0.488	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		9	253						9	253	---	---	---	---	-	79792169	CAGCACCAC	-	79792161	7	5	88	1	0	1	0	1	0	0	0	0	1462	711	25	0	1498	0	BMP2K	4	79792161	In_Frame_Del	DEL	CAGCACCAC	TCGA-IB-A6UF-01A-23D-A33T-08	330002	79792161	111362115	63	33223											
COL25A1	84570	broad.mit.edu	37	chr4	109895698	109895698	+	Frame_Shift_Del	DEL	T	T	-													cattttcttaccttatcgccTtttggaccaggagggccctg					rs550666487		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:109895698delT	ENST00000399132.1	-	7	986	c.456delA	c.(454-456)aaafs	p.K152fs	COL25A1_ENST00000399126.1_Frame_Shift_Del_p.K152fs|COL25A1_ENST00000399127.1_Frame_Shift_Del_p.K152fs	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.K152K(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCTTATCGCCTTTTGGACCAG	0.318																																						ENST00000399132.1																			2	Substitution - coding silent(2)	p.K152K(2)	lung(2)	NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(454-456)aafs		collagen, type XXV, alpha 1							135	131	132					4																	109895698		1811	4063	5874	SO:0001589	frameshift_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109895698delT	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.456delA	4.37:g.109895698delT	ENSP00000382083:p.Lys152fs					COL25A1_ENST00000399127.1_Frame_Shift_Del_p.K152fs|COL25A1_ENST00000399126.1_Frame_Shift_Del_p.K152fs	p.K152fs	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	7	986	-		Hepatocellular(203;0.217)	152			Collagen-like 1.			Frame_Shift_Del	DEL	ENST00000399132.1	37	c.456delA	CCDS43258.1																																																																																				0.318	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		8	618						8	618	---	---	---	---	-	109895698	T	-	109895698	7	5	88	1	0	1	0	1	0	0	0	0	3693	1606	56	0	1720	0	COL25A1	4	109895698	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	30103537	109895698	81258578	64	33224											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			6	281	0	0	0	1	0	6	281					T	140811108	C	T	140811108	2	4	88	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	30915410	140811108	50343168	65	33225											
FSTL5	56884	broad.mit.edu	37	chr4	162841645	162841645	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagtggttttcatagAattctccgtcagatccacac	6	12	4	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:162841645A>T	ENST00000306100.5	-	4	756	c.320T>A	c.(319-321)tTc>tAc	p.F107Y	FSTL5_ENST00000427802.2_Missense_Mutation_p.F106Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.F106Y|FSTL5_ENST00000536695.1_Missense_Mutation_p.F106Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	107	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					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)		GTTTTCATAGAATTCTCCGTC	0.433																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(319-321)tTc>tAc		follistatin-like 5							131	119	123					4																	162841645		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162841645A>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.320T>A	4.37:g.162841645A>T	ENSP00000305334:p.Phe107Tyr					FSTL5_ENST00000536695.1_Missense_Mutation_p.F106Y|FSTL5_ENST00000427802.2_Missense_Mutation_p.F106Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.F106Y	p.F107Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	756	-	all_hematologic(180;0.24)		107			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.320T>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552502	0.86127	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.86	5.86	0.93980	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.056975	0.64402	D	0.000001	T	0.08268	0.0206	L	0.33093	0.98	0.47994	D	0.999564	D;B;D	0.53619	0.961;0.134;0.961	P;B;P	0.48770	0.589;0.017;0.589	T	0.13176	-1.0519	10	0.51188	T	0.08	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	106;106;107	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Y	107;106;106;106	ENSP00000305334:F107Y;ENSP00000368462:F106Y;ENSP00000389270:F106Y;ENSP00000440409:F106Y	ENSP00000305334:F107Y	F	-	2	0	FSTL5	163061095	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	8.910000	0.92685	2.367000	0.80283	0.528000	0.53228	TTC		0.433	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		68	174	0	0	0	1	0	68	174					T	162841645	A	T	162841645	3	4	88	1	0	0	0	0	1	0	0	0	6107	246	9	5	2275	5	FSTL5	4	162841645	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	22030537	162841645	28312631	66	33226											
CLCN3	1182	broad.mit.edu	37	chr4	170618575	170618575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgcctggtgtcgtcgacGcaagtccacgaaatttggaa	11	9	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:170618575G>A	ENST00000513761.1	+	9	1812	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	CLCN3_ENST00000347613.4_Missense_Mutation_p.R418H|CLCN3_ENST00000504131.2_Missense_Mutation_p.R401H|CLCN3_ENST00000360642.3_Missense_Mutation_p.R391H	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	418					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)		TGTCGTCGACGCAAGTCCACG	0.438																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1252-1254)cGc>cAc		chloride channel, voltage-sensitive 3							128	124	125					4																	170618575		2203	4300	6503	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618575G>A	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"Ion channels / Chloride channels : Voltage-sensitive"	2021	protein-coding gene	gene with protein product		600580	"chloride channel 3"				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1253G>A	4.37:g.170618575G>A	ENSP00000424603:p.Arg418His					CLCN3_ENST00000347613.4_Missense_Mutation_p.R418H|CLCN3_ENST00000360642.3_Missense_Mutation_p.R391H|CLCN3_ENST00000504131.2_Missense_Mutation_p.R401H	p.R418H	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	1812	+		Prostate(90;0.00601)|Renal(120;0.0183)	418					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1253G>A	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.870874|4.870874	0.91587|0.91587	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000515420|ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	.|D;D;D;D;D	.|0.94650	.|-3.48;-3.48;-3.48;-3.48;-3.48	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Chloride channel, core (2);	.|0.046411	.|0.85682	.|D	.|0.000000	D|D	0.98425|0.98425	0.9476|0.9476	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999;1.0	.|D;D;D;D;D	.|0.77557	.|0.984;0.99;0.984;0.984;0.972	D|D	0.99023|0.99023	1.0818|1.0818	5|10	.|0.87932	.|D	.|0	-4.8294|-4.8294	20.1392|20.1392	0.98050|0.98050	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|391;401;391;418;418	.|B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.|.;.;.;CLCN3_HUMAN;.	T|H	73|418;418;391;401;391	.|ENSP00000424603:R418H;ENSP00000261514:R418H;ENSP00000353857:R391H;ENSP00000424540:R401H;ENSP00000425323:R391H	.|ENSP00000261514:R418H	A|R	+|+	1|2	0|0	CLCN3|CLCN3	170855150|170855150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.968000|7.968000	0.87980|0.87980	2.765000|2.765000	0.95021|0.95021	0.557000|0.557000	0.71058|0.71058	GCA|CGC		0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			5	614	0	0	0	1	0	5	614					A	170618575	G	A	170618575	3	1	88	1	0	0	0	0	1	0	0	0	3473	1087	38	1	1283	1	CLCN3	4	170618575	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7776930	170618575	20535701	67	33227											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron	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)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		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					SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		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)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		9	375						9	375	---	---	---	---	-	186544622	GGT	-	186544620	7	5	88	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-IB-A6UF-01A-23D-A33T-08	15926045	186544620	4609656	68	33228											
PAPD7	11044	broad.mit.edu	37	chr5	6748605	6748605	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttggccggagctcctatggCgccatgcaggtgaagcaggt	16	10	0	1	rs200618816	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:6748605C>T	ENST00000230859.6	+	8	867	c.738C>T	c.(736-738)ggC>ggT	p.G246G		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	476					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCTCCTATGGCGCCATGCAGG	0.537													C|||	2	0.000399361	0.0	0.0	5008	,	,		20918	0.0		0.002	False		,,,				2504	0.0				NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(736-738)ggC>ggT		PAP associated domain containing 7		C	,,	0,4406		0,0,2203	315	290	298		738,198,738	2.3	1	5	dbSNP_134	298	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	PAPD7	NM_001171805.1,NM_001171806.1,NM_006999.4	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	246/542,66/363,246/543	6748605	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6748605C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.738C>T	5.37:g.6748605C>T							p.G246G	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			8	867	+			246					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Silent	SNP	ENST00000230859.6	37	c.738C>T	CCDS3871.1																																																																																				0.537	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		7	1228	0	0	0	1	0	7	1228					T	6748605	C	T	6748605	2	4	88	1	0	0	0	0	0	0	0	1	11468	755	27	1		1	PAPD7	5	6748605	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		6748605	174166655	69	33229											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-													gtagttaaacttggagagtcTttttttccagtgctccagct							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	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)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145	157	153					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	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.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	1205						7	1205	---	---	---	---	-	13919383	T	-	13919383	7	5	88	1	0	1	0	1	0	0	0	0	4620	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	7170778	13919383	166995877	70	33230											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	847						10	847	---	---	---	---	-	32090061	TCC	-	32090059	7	5	88	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-IB-A6UF-01A-23D-A33T-08	18170676	32090059	148825201	71	33231											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg					rs576181814		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|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 migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		15	346						15	346	---	---	---	---	-	44388717	AGC	-	44388715	7	5	88	1	0	1	0	1	0	0	0	0	5864	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-IB-A6UF-01A-23D-A33T-08	12298656	44388715	136526545	72	33232											
ITGA2	3673	broad.mit.edu	37	chr5	52376439	52376439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgatgtacctaactggggtGcaaacagacaaggtaaagat	11	7	0	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:52376439G>A	ENST00000296585.5	+	25	3170	c.3027G>A	c.(3025-3027)gtG>gtA	p.V1009V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1009					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)				TAACTGGGGTGCAAACAGACA	0.383																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(3025-3027)gtG>gtA		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							125	119	121					5																	52376439		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52376439G>A		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.3027G>A	5.37:g.52376439G>A							p.V1009V	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			25	3170	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	1009					Q14595	Silent	SNP	ENST00000296585.5	37	c.3027G>A	CCDS3957.1																																																																																				0.383	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		5	365	0	0	0	1	0	5	365					A	52376439	G	A	52376439	2	1	88	1	0	0	0	0	0	0	0	1	7905	1306	46	2		2	ITGA2	5	52376439	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7987724	52376439	128538821	73	33233											
SEPT8	23176	broad.mit.edu	37	chr5	132098218	132098218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagcctcatcatccgtGgggaactggtagatctggac	12	11	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:132098218G>A	ENST00000378719.2	-	5	891	c.654C>T	c.(652-654)ccC>ccT	p.P218P	SEPT8_ENST00000448933.1_Silent_p.P158P|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378701.1_Silent_p.P216P|SEPT8_ENST00000378699.2_Silent_p.P158P|SEPT8_ENST00000458488.2_Silent_p.P218P|SEPT8_ENST00000378721.4_Silent_p.P216P|SEPT8_ENST00000296873.7_Silent_p.P218P|SEPT8_ENST00000378706.1_Silent_p.P218P	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	218	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCATCCGTGGGGAACTGGT	0.582																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(652-654)ccC>ccT		septin 8							129	126	127					5																	132098218		2095	4252	6347	SO:0001819	synonymous_variant	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132098218G>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.654C>T	5.37:g.132098218G>A						SEPT8_ENST00000378699.2_Silent_p.P158P|SEPT8_ENST00000378721.4_Silent_p.P216P|SEPT8_ENST00000448933.1_Silent_p.P158P|SEPT8_ENST00000458488.2_Silent_p.P218P|SEPT8_ENST00000378701.1_Silent_p.P216P|SEPT8_ENST00000378719.2_Silent_p.P218P|SEPT8_ENST00000378706.1_Silent_p.P218P	p.P218P	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	937	-		all_cancers(142;0.0751)|Breast(839;0.198)	218					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	37	c.654C>T	CCDS43358.1																																																																																				0.582	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		125	270	0	0	0	1	0	125	270					A	132098218	G	A	132098218	2	1	88	1	0	0	0	0	0	0	0	1	14120	1335	47	2		2	SEPT8	5	132098218	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	79721779	132098218	48817042	74	33234											
PPP2CA	5515	broad.mit.edu	37	chr5	133541798	133541798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacctcttgcacgttggAttcttttgtcaggatttctt	8	9	4	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133541798A>G	ENST00000481195.1	-	2	407	c.127T>C	c.(127-129)Tcc>Ccc	p.S43P	CDKL3_ENST00000609654.1_Missense_Mutation_p.S393P|CTD-2410N18.4_ENST00000518409.1_RNA|CTD-2410N18.5_ENST00000519718.1_Intron|CDKL3_ENST00000609383.1_3'UTR|PPP2CA_ENST00000231504.5_5'UTR	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	43					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|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 epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|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 protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|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)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TGCACGTTGGATTCTTTTGTC	0.378																																						ENST00000481195.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12						c.(127-129)Tcc>Ccc		protein phosphatase 2, catalytic subunit, alpha isozyme							134	120	125					5																	133541798		2203	4300	6503	SO:0001583	missense	5515							g.chr5:133541798A>G		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.127T>C	5.37:g.133541798A>G	ENSP00000418447:p.Ser43Pro					CDKL3_ENST00000518409.1_5'UTR|PPP2CA_ENST00000231504.5_5'UTR	p.S43P	NM_002715.2	NP_002706.1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	407	-								P05323|P13197	Missense_Mutation	SNP	ENST00000481195.1	37	c.127T>C	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782504	0.70222	.	.	ENSG00000113575	ENST00000481195;ENST00000523082	T;T	0.03745	3.82;3.82	5.35	5.35	0.76521	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.107193	0.64402	D	0.000003	T	0.09423	0.0232	L	0.39245	1.2	0.80722	D	1	B;B	0.29571	0.249;0.001	P;B	0.46049	0.502;0.002	T	0.23013	-1.0200	10	0.62326	D	0.03	-5.6143	15.6174	0.76778	1.0:0.0:0.0:0.0	.	393;43	B7Z2C5;P67775	.;PP2AA_HUMAN	P	43;30	ENSP00000418447:S43P;ENSP00000428816:S30P	ENSP00000418447:S43P	S	-	1	0	PPP2CA	133569697	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.287000	0.95975	2.161000	0.67846	0.482000	0.46254	TCC		0.378	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		90	243	0	0	0	1	0	90	243					G	133541798	A	G	133541798	3	3	88	1	0	0	0	0	1	0	0	0	12427	333	12	4	826	4	PPP2CA	5	133541798	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	1443580	133541798	47373462	75	33235											
PHF15	23338	broad.mit.edu	37	chr5	133901907	133901907	+	Frame_Shift_Del	DEL	C	C	-													gacaacgatgaggtcaagttCaagtcattctgccaggagca							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:133901907delC	ENST00000402835.1	+	9	1326	c.1071delC	c.(1069-1071)ttcfs	p.F357fs	PHF15_ENST00000282605.4_Frame_Shift_Del_p.F357fs|PHF15_ENST00000395003.1_Frame_Shift_Del_p.F357fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.F357fs																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCAAGTTCAAGTCATTCT	0.567																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1069-1071)ttfs									117	102	107					5																	133901907		2203	4300	6503	SO:0001589	frameshift_variant	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133901907delC																												ENST00000402835.1:c.1071delC	5.37:g.133901907delC	ENSP00000384671:p.Phe357fs					PHF15_ENST00000402835.1_Frame_Shift_Del_p.F357fs|PHF15_ENST00000361895.2_Frame_Shift_Del_p.F357fs|PHF15_ENST00000282605.4_Frame_Shift_Del_p.F357fs	p.F357fs	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1250	+			357						Frame_Shift_Del	DEL	ENST00000402835.1	37	c.1071delC																																																																																					0.567	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			145	403						145	403	---	---	---	---	-	133901907	C	-	133901907	7	5	88	1	0	1	0	1	0	0	0	0	11868	825	29	0	1101	0	PHF15	5	133901907	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	360109	133901907	47013353	76	33236											
PCDHB1	29930	broad.mit.edu	37	chr5	140431291	140431291	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgcatttccggctccaccGcaagacgggagatttgtttg	11	10	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140431291G>A	ENST00000306549.3	+	1	313	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R79L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTCCACCGCAAGACGGGA	0.567																																						ENST00000306549.3																			1	Substitution - Missense(1)	p.R79L(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53						c.(235-237)cGc>cAc									62	67	65					5																	140431291		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140431291G>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.236G>A	5.37:g.140431291G>A	ENSP00000307234:p.Arg79His						p.R79H	NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	313	+			79			Cadherin 1.		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.236G>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452174	0.26074	.	.	ENSG00000171815	ENST00000306549	T	0.38887	1.11	5.81	5.81	0.92471	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.48767	D	0.000178	T	0.38480	0.1042	L	0.46614	1.455	0.22719	N	0.998819	D	0.59357	0.985	P	0.48795	0.59	T	0.42749	-0.9433	10	0.30078	T	0.28	.	5.4729	0.16680	0.0748:0.1974:0.598:0.1299	.	79	Q9Y5F3	PCDB1_HUMAN	H	79	ENSP00000307234:R79H	ENSP00000307234:R79H	R	+	2	0	PCDHB1	140411475	0.000000	0.05858	1.000000	0.80357	0.929000	0.56500	0.076000	0.14712	2.756000	0.94617	0.655000	0.94253	CGC		0.567	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	457	0	0	0	1	0	6	457					A	140431291	G	A	140431291	3	1	88	1	0	0	0	0	1	0	0	0	11576	1087	38	1	238	1	PCDHB1	5	140431291	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6529384	140431291	40483969	77	33237											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730509	140730509	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaccacccatatctggatcCgagttacggatgccaatgat	9	12	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:140730509C>T	ENST00000523390.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	228	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(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)			TATCTGGATCCGAGTTACGGA	0.547																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(682-684)Cga>Tga									67	69	68					5																	140730509		1922	4139	6061	SO:0001587	stop_gained	0							g.chr5:140730509C>T	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.682C>T	5.37:g.140730509C>T	ENSP00000429273:p.Arg228*					PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.R228*	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	682	+								Q3SY75|Q9Y5C8	Nonsense_Mutation	SNP	ENST00000523390.1	37	c.682C>T	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	14.38	2.518092	0.44763	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.36	1.88	0.25563	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	7.6146	0.28150	0.6252:0.2816:0.0:0.0931	.	.	.	.	X	228	.	ENSP00000429273:R228X	R	+	1	2	PCDHGB1	140710693	0.000000	0.05858	0.031000	0.17742	0.055000	0.15305	0.430000	0.21428	0.655000	0.30866	0.563000	0.77884	CGA		0.547	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		124	298	0	0	0	1	0	124	298					T	140730509	C	T	140730509	4	4	88	1	0	0	0	0	0	1	0	0	11604	644	23	1	684	1	PCDHGB1	5	140730509	Nonsense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	299218	140730509	40184751	78	33238											
PCDH12	51294	broad.mit.edu	37	chr5	141335933	141335933	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggatgcggtatgagActtttccattaatgcccaag	10	9	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:141335933A>T	ENST00000231484.3	-	1	2694	c.1484T>A	c.(1483-1485)gTc>gAc	p.V495D	AC005740.6_ENST00000607378.1_RNA|PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	495	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTATGAGACTTTTCCATT	0.473																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1483-1485)gTc>gAc		protocadherin 12							103	102	103					5																	141335933		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335933A>T	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.1484T>A	5.37:g.141335933A>T	ENSP00000231484:p.Val495Asp						p.V495D	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2694	-		all_hematologic(541;0.0999)	495			Cadherin 5.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1484T>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.325820	0.41197	.	.	ENSG00000113555	ENST00000231484	T	0.55234	0.53	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.463335	0.22727	N	0.056374	T	0.77315	0.4112	H	0.94886	3.595	0.80722	D	1	D	0.67145	0.996	P	0.62089	0.898	D	0.83734	0.0200	10	0.87932	D	0	.	12.9983	0.58660	1.0:0.0:0.0:0.0	.	495	Q9NPG4	PCD12_HUMAN	D	495	ENSP00000231484:V495D	ENSP00000231484:V495D	V	-	2	0	PCDH12	141316117	1.000000	0.71417	0.835000	0.33067	0.159000	0.22180	9.139000	0.94554	2.169000	0.68431	0.533000	0.62120	GTC		0.473	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		106	233	0	0	0	1	0	106	233					T	141335933	A	T	141335933	3	4	88	1	0	0	0	0	1	0	0	0	11552	275	10	5	2086	5	PCDH12	5	141335933	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	605424	141335933	39579327	79	33239											
FAT2	2196	broad.mit.edu	37	chr5	150930181	150930181	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgtgctgggagggcccCgagccgaggtccaattttcc	15	11	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:150930181C>T	ENST00000261800.5	-	7	4560	c.4548G>A	c.(4546-4548)tcG>tcA	p.S1516S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1516	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)			GGGAGGGCCCCGAGCCGAGGT	0.532																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4546-4548)tcG>tcA		FAT atypical cadherin 2							82	80	81					5																	150930181		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150930181C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4548G>A	5.37:g.150930181C>T							p.S1516S	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	4560	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1516			Cadherin 13.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4548G>A	CCDS4317.1																																																																																				0.532	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	388	0	0	0	1	0	8	388					T	150930181	C	T	150930181	2	4	88	1	0	0	0	0	0	0	0	1	5715	639	23	1		1	FAT2	5	150930181	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	9594248	150930181	29985079	80	33240											
FAM71B	153745	broad.mit.edu	37	chr5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcctctgttgtacaattgtCgttgcaggtcccccatggag	10	12	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	30						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACAATTGTCGTTGCAGGTC	0.403																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(88-90)cGa>cAa		family with sequence similarity 71, member B							137	131	133					5																	156593091		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156593091C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.89G>A	5.37:g.156593091C>T	ENSP00000305596:p.Arg30Gln						p.R30Q	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	184	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	30					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.89G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	6.047	0.377072	0.11466	.	.	ENSG00000170613	ENST00000302938	T	0.04970	3.52	4.67	2.9	0.33743	.	0.174270	0.35151	N	0.003414	T	0.02929	0.0087	N	0.12887	0.27	0.09310	N	1	P	0.35600	0.511	B	0.23419	0.046	T	0.44877	-0.9299	10	0.38643	T	0.18	-3.3554	8.0345	0.30484	0.0:0.8053:0.0:0.1947	.	30	Q8TC56	FA71B_HUMAN	Q	30	ENSP00000305596:R30Q	ENSP00000305596:R30Q	R	-	2	0	FAM71B	156525669	0.000000	0.05858	0.004000	0.12327	0.097000	0.18754	0.218000	0.17622	0.663000	0.31027	-0.143000	0.13931	CGA		0.403	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		167	419	0	0	0	1	0	167	419					T	156593091	C	T	156593091	3	4	88	1	0	0	0	0	1	0	0	0	5633	884	31	1	1736	1	FAM71B	5	156593091	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	5662910	156593091	24322169	81	33241											
GABRP	2568	broad.mit.edu	37	chr5	170221280	170221280	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tctggacattgcaagtatctCtagcatttcagagagtaaca	8	8	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:170221280C>G	ENST00000518525.1	+	5	682	c.218C>G	c.(217-219)tCt>tGt	p.S73C	GABRP_ENST00000265294.4_Missense_Mutation_p.S73C|GABRP_ENST00000519598.1_Missense_Mutation_p.S73C|GABRP_ENST00000519385.1_Missense_Mutation_p.S73C			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	73					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)	GCAAGTATCTCTAGCATTTCA	0.418																																						ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(217-219)tCt>tGt		gamma-aminobutyric acid (GABA) A receptor, pi							92	87	89					5																	170221280		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170221280C>G	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.218C>G	5.37:g.170221280C>G	ENSP00000430100:p.Ser73Cys					GABRP_ENST00000519385.1_Missense_Mutation_p.S73C|GABRP_ENST00000519598.1_Missense_Mutation_p.S73C|GABRP_ENST00000265294.4_Missense_Mutation_p.S73C	p.S73C			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	682	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	73					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.218C>G	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070843	0.76301	.	.	ENSG00000094755	ENST00000521481;ENST00000521009;ENST00000522868;ENST00000518525;ENST00000265294;ENST00000519385;ENST00000519598	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.4	4.52	0.55395	Neurotransmitter-gated ion-channel ligand-binding (3);	0.432357	0.27168	N	0.020614	D	0.84875	0.5569	M	0.77820	2.39	0.40030	D	0.975529	D;D	0.61697	0.99;0.977	P;P	0.56823	0.807;0.721	D	0.87383	0.2358	10	0.87932	D	0	.	13.1838	0.59670	0.2902:0.7098:0.0:0.0	.	73;73	E7EWG0;O00591	.;GBRP_HUMAN	C	73	ENSP00000428804:S73C;ENSP00000428103:S73C;ENSP00000430188:S73C;ENSP00000430100:S73C;ENSP00000265294:S73C;ENSP00000430727:S73C;ENSP00000430772:S73C	ENSP00000265294:S73C	S	+	2	0	GABRP	170153858	1.000000	0.71417	0.949000	0.38748	0.986000	0.74619	5.018000	0.64054	1.375000	0.46248	0.643000	0.83706	TCT		0.418	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		4	285	0	0	0	1	0	4	285					G	170221280	C	G	170221280	3	3	88	1	0	0	0	0	1	0	0	0	6201	913	32	5	228	5	GABRP	5	170221280	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	13628189	170221280	10693980	82	33242											
UNC5A	90249	broad.mit.edu	37	chr5	176301068	176301068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcctcgtttattgccGgaagaaggaggggctggact	13	10	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:176301068G>A	ENST00000329542.4	+	7	1260	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R289Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	329					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			GTTTATTGCCGGAAGAAGGAG	0.622																																						ENST00000329542.4																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34						c.(985-987)cGg>cAg		unc-5 homolog A (C. elegans)							117	102	107					5																	176301068		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176301068G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.986G>A	5.37:g.176301068G>A	ENSP00000332737:p.Arg329Gln					UNC5A_ENST00000261961.3_Missense_Mutation_p.R289Q	p.R329Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1260	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	329					B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.986G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481357	0.96307	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.51071	0.72;1.03	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.52126	1.63	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.973	T	0.66874	-0.5813	10	0.72032	D	0.01	-35.8421	18.9122	0.92490	0.0:0.0:1.0:0.0	.	289;329	Q6ZN44-3;Q6ZN44	.;UNC5A_HUMAN	Q	329;289	ENSP00000332737:R329Q;ENSP00000261961:R289Q	ENSP00000261961:R289Q	R	+	2	0	UNC5A	176233674	1.000000	0.71417	0.976000	0.42696	0.927000	0.56198	6.361000	0.73070	2.481000	0.83766	0.484000	0.47621	CGG		0.622	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		4	300	0	0	0	1	0	4	300					A	176301068	G	A	176301068	3	1	88	1	0	0	0	0	1	0	0	0	17045	1116	39	1	1012	1	UNC5A	5	176301068	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	6079788	176301068	4614192	83	33243											
SQSTM1	8878	broad.mit.edu	37	chr5	179252186	179252186	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccgagtgtgaatttcctgaaGaacgttggggagagtgtggc	16	6	0	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr5:179252186G>C	ENST00000389805.4	+	5	892	c.714G>C	c.(712-714)aaG>aaC	p.K238N	SQSTM1_ENST00000402874.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000360718.5_Missense_Mutation_p.K154N|SQSTM1_ENST00000376929.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000510187.1_Missense_Mutation_p.K238N	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	238			K -> E (polymorphism confirmed at protein level; dbSNP:rs11548633). {ECO:0000269|PubMed:17488105}.		apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATTTCCTGAAGAACGTTGGGG	0.468																																						ENST00000389805.4																		SQSTM1/ALK(2)	0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(712-714)aaG>aaC		sequestosome 1							124	112	116					5																	179252186		2203	4300	6503	SO:0001583	missense	8878				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179252186G>C	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.714G>C	5.37:g.179252186G>C	ENSP00000374455:p.Lys238Asn					SQSTM1_ENST00000402874.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000376929.3_Missense_Mutation_p.K154N|SQSTM1_ENST00000360718.5_Missense_Mutation_p.K154N|SQSTM1_ENST00000510187.1_Missense_Mutation_p.K238N	p.K238N	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	892	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	238					A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.714G>C	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201297	0.58234	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;D;D;T;D	0.83506	-1.73;1.84;-1.72;-1.73;2.33;-1.73	5.15	4.28	0.50868	.	0.267149	0.41097	N	0.000953	D	0.86590	0.5969	M	0.65498	2.005	0.58432	D	0.999996	P;D	0.63880	0.477;0.993	B;P	0.53954	0.106;0.738	D	0.87728	0.2577	10	0.72032	D	0.01	-32.8687	13.713	0.62680	0.0746:0.0:0.9254:0.0	.	238;238	Q13501;E7EMC7	SQSTM_HUMAN;.	N	154;154;238;94;154;238;154	ENSP00000366128:K154N;ENSP00000427308:K154N;ENSP00000374455:K238N;ENSP00000385553:K154N;ENSP00000424477:K238N;ENSP00000353944:K154N	ENSP00000353944:K154N	K	+	3	2	SQSTM1	179184792	1.000000	0.71417	0.995000	0.50966	0.124000	0.20399	3.988000	0.56951	1.167000	0.42706	0.561000	0.74099	AAG		0.468	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			96	276	0	0	0	1	0	96	276					C	179252186	G	C	179252186	3	2	88	1	0	0	0	0	1	0	0	0	15182	933	33	5	732	5	SQSTM1	5	179252186	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2951118	179252186	1663074	84	33244											
VARS	7407	broad.mit.edu	37	chr6	31760017	31760017	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttccccgggtggggttGggaggtcataggtaatgacc	15	8	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:31760017G>A	ENST00000375663.3	-	6	1288	c.848C>T	c.(847-849)cCa>cTa	p.P283L	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	283					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)	GGGTGGGGTTGGGAGGTCATA	0.537																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(847-849)cCa>cTa		valyl-tRNA synthetase	L-Valine(DB00161)						78	80	80					6																	31760017		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31760017G>A	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.848C>T	6.37:g.31760017G>A	ENSP00000364815:p.Pro283Leu					VARS_ENST00000444930.2_5'UTR	p.P283L	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			6	1288	-			283					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.848C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025223	0.54683	.	.	ENSG00000204394	ENST00000375663	T	0.04234	3.67	5.25	4.36	0.52297	.	0.058877	0.64402	D	0.000002	T	0.03095	0.0091	M	0.61703	1.905	0.80722	D	1	B	0.20671	0.047	B	0.14578	0.011	T	0.16660	-1.0395	10	0.54805	T	0.06	-15.574	12.7975	0.57567	0.0:0.0:0.835:0.165	.	283	P26640	SYVC_HUMAN	L	283	ENSP00000364815:P283L	ENSP00000364815:P283L	P	-	2	0	VARS	31867996	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	5.919000	0.70005	1.166000	0.42689	0.313000	0.20887	CCA		0.537	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		13	460	0	0	0	1	0	13	460					A	31760017	G	A	31760017	3	1	88	1	0	0	0	0	1	0	0	0	17177	1348	47	2	3046	2	VARS	6	31760017	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		31760017	139355050	85	33245											
BTNL2	56244	broad.mit.edu	37	chr6	32362627	32362627	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccttagcaatgtctgcacGtggaacagcccgtggctgcc	11	14	1	0	rs144584698	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:32362627G>A	ENST00000374993.1	-	6	1253	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	BTNL2_ENST00000540315.1_Silent_p.H208H|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000454136.3_Silent_p.H418H|BTNL2_ENST00000374995.3_Silent_p.H324H|BTNL2_ENST00000544175.1_Silent_p.H141H|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000414363.1_Silent_p.H208H	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	418						integral component of membrane (GO:0016021)		p.H418H(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATGTCTGCACGTGGAACAGCC	0.547																																						ENST00000454136.3																			1	Substitution - coding silent(1)	p.H418H(1)	endometrium(1)	central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(1252-1254)caC>caT		butyrophilin-like 2 (MHC class II associated)							210	203	205					6																	32362627		2203	4300	6503	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32362627G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1254C>T	6.37:g.32362627G>A						BTNL2_ENST00000414363.1_Silent_p.H208H|BTNL2_ENST00000374993.1_Silent_p.H418H|BTNL2_ENST00000544175.1_Silent_p.H141H|BTNL2_ENST00000540315.1_Silent_p.H208H|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374995.3_Silent_p.H324H	p.H418H			Q9UIR0	BTNL2_HUMAN			6	1258	-			418					A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.1254C>T																																																																																					0.547	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		10	570	0	0	0	1	0	10	570					A	32362627	G	A	32362627	2	1	88	1	0	0	0	0	0	0	0	1	1569	1136	40	1		1	BTNL2	6	32362627	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	602610	32362627	138752440	86	33246											
ASCC3	10973	broad.mit.edu	37	chr6	101248186	101248186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttattacctttgtatccGcaattccttaggatcaaagc	5	10	1	0	rs371905084		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:101248186G>A	ENST00000369162.2	-	6	1461	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ASCC3_ENST00000522650.1_Missense_Mutation_p.R373W	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	373					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)	p.R373W(1)		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)		CTTTGTATCCGCAATTCCTTA	0.348																																						ENST00000369162.2																			1	Substitution - Missense(1)	p.R373W(1)	kidney(1)	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						c.(1117-1119)Cgg>Tgg		activating signal cointegrator 1 complex subunit 3		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	119	117	118		1117	-2.6	0.5	6		118	0,8600		0,0,4300	no	missense	ASCC3	NM_006828.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	373/2203	101248186	1,13005	2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101248186G>A	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.1117C>T	6.37:g.101248186G>A	ENSP00000358159:p.Arg373Trp					ASCC3_ENST00000522650.1_Missense_Mutation_p.R373W	p.R373W	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	6	1461	-		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)	373					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.1117C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041379	0.55003	2.27E-4	0.0	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.61627	0.29;0.09	5.51	-2.59	0.06209	.	0.066271	0.64402	D	0.000020	T	0.64170	0.2574	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.973;0.958	T	0.73075	-0.4097	10	0.49607	T	0.09	.	18.3564	0.90358	0.0:0.0:0.3701:0.6299	.	373;373	E7EW23;Q8N3C0	.;HELC1_HUMAN	W	373	ENSP00000358159:R373W;ENSP00000430769:R373W	ENSP00000358159:R373W	R	-	1	2	ASCC3	101354907	0.988000	0.35896	0.515000	0.27774	0.665000	0.39181	0.223000	0.17719	-0.294000	0.08973	-0.310000	0.09108	CGG		0.348	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		4	252	0	0	0	1	0	4	252					A	101248186	G	A	101248186	3	1	88	1	0	0	0	0	1	0	0	0	1034	1086	38	1	5639	1	ASCC3	6	101248186	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	68885559	101248186	69866881	87	33247											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	8	2	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		10	391	0	0	0	1	0	10	391					T	108214765	A	T	108214765	4	4	88	1	0	0	0	0	0	1	0	0	14055	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	6966579	108214765	62900302	88	33248											
TWISTNB	221830	broad.mit.edu	37	chr7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-													cctgaacttcctggtgctttTtcttcttcttctttttcttt					rs561305387	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433														10	0.00199681	0.0076	0.0	5008	,	,		16756	0.0		0.0	False		,,,				2504	0.0					ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(841-846)aaa>aa		TWIST neighbor				24,4238		4,16,2111						-2.7	0.6			252	11,8239		5,1,4119	no	coding	TWISTNB	NM_001002926.1		9,17,6230	A1A1,A1R,RR		0.1333,0.5631,0.2797				35,12477				SO:0001651	inframe_deletion	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738111_19738113delTTC	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.843_845delGAA	7.37:g.19738120_19738122delTTC	ENSP00000222567:p.Lys283del						p.KK281del	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	913_915	-			281			Lys-rich.		A0PJ45|B7Z724	In_Frame_Del	DEL	ENST00000222567.5	37	c.843_845delGAA	CCDS34606.1																																																																																				0.433	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			7	1814						7	1814	---	---	---	---	-	19738113	TTC	-	19738111	7	5	88	1	0	1	0	1	0	0	0	0	16838	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-IB-A6UF-01A-23D-A33T-08		19738111	139400552	89	33249											
PDAP1	11333	broad.mit.edu	37	chr7	98997952	98997952	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcgaaagctcctttggCccgtccagatccagttgtgt	9	14	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:98997952C>T	ENST00000350498.3	-	4	589	c.309G>A	c.(307-309)ggG>ggA	p.G103G	PDAP1_ENST00000496335.1_5'Flank	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	103					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCTCCTTTGGCCCGTCCAGAT	0.562																																						ENST00000350498.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9						c.(307-309)ggG>ggA		PDGFA associated protein 1	Becaplermin(DB00102)						168	123	138					7																	98997952		2203	4300	6503	SO:0001819	synonymous_variant	11333				cell proliferation|signal transduction			g.chr7:98997952C>T	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"PDGF associated protein"	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.309G>A	7.37:g.98997952C>T							p.G103G	NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	589	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		103					D6W5S5|Q92906	Silent	SNP	ENST00000350498.3	37	c.309G>A	CCDS5662.1																																																																																				0.562	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		5	325	0	0	0	1	0	5	325					T	98997952	C	T	98997952	2	4	88	1	0	0	0	0	0	0	0	1	11655	726	26	2		2	PDAP1	7	98997952	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	79259841	98997952	60140711	90	33250											
ZAN	7455	broad.mit.edu	37	chr7	100383688	100383688	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggaggagccattcagtgcGgggacttccgatgcccctct	14	13	2	0	rs200555930		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:100383688G>A	ENST00000348028.3	+	0	7068				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_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)			CATTCAGTGCGGGGACTTCCG	0.582																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							66	69	68					7																	100383688		1975	4173	6148			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100383688G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100383688G>A						ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7049	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	G	12.39	1.924391	0.34002	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.04119	3.7;3.7;3.7;3.7	4.77	-3.44	0.04796	von Willebrand factor, type C (1);	1.461850	0.04593	N	0.397035	T	0.02193	0.0068	.	.	.	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43988	-0.9357	9	0.15066	T	0.55	.	1.2273	0.01936	0.3587:0.2435:0.2418:0.1559	.	775;2301;2302	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	R	2301;2301;2301;775	ENSP00000445943:G2301R;ENSP00000445091:G2301R;ENSP00000444427:G2301R;ENSP00000441117:G775R	ENSP00000445091:G2301R	G	+	1	0	ZAN	100221624	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-1.866000	0.01647	-0.883000	0.03982	-0.823000	0.03104	GGG		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		155	362	0	0	0	1	0	155	362					A	100383688	G	A	100383688	1	1	88	0	1	0	0	0	0	0	0	0	17567	1116	39	1		1	ZAN	7	100383688	RNA	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1385736	100383688	58754975	91	33251											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	236	0	0	0	1	0	4	236					G	114269973	A	G	114269973	2	3	88	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	13886285	114269973	44868690	92	33252											
DGKI	9162	broad.mit.edu	37	chr7	137269964	137269964	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactctctaaccttacatacGccatcttcaagttcttctgg	4	13	5	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr7:137269964G>A	ENST00000288490.5	-	14	1554	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G	DGKI_ENST00000453654.2_Silent_p.G218G|DGKI_ENST00000446122.1_Silent_p.G518G|DGKI_ENST00000424189.2_Silent_p.G518G	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	518					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						CCTTACATACGCCATCTTCAA	0.483																																						ENST00000453654.1																			0				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						c.(652-654)ggC>ggT		diacylglycerol kinase, iota							141	133	136					7																	137269964		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137269964G>A	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.1554C>T	7.37:g.137269964G>A						DGKI_ENST00000424189.2_Silent_p.G518G|DGKI_ENST00000446122.1_Silent_p.G518G|DGKI_ENST00000288490.5_Silent_p.G518G	p.G218G			O75912	DGKI_HUMAN			14	1193	-			518					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.654C>T	CCDS5845.1																																																																																				0.483	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		144	447	0	0	0	1	0	144	447					A	137269964	G	A	137269964	2	1	88	1	0	0	0	0	0	0	0	1	4487	1074	38	1		1	DGKI	7	137269964	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	22999991	137269964	21868699	93	33253											
ADRA1A	148	broad.mit.edu	37	chr8	26722237	26722237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctaggacctcgaagatggCggagaagggcagcaccgtgg	17	10	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:26722237C>T	ENST00000519229.1	-	1	256	c.250G>A	c.(250-252)Gcc>Acc	p.A84T	ADRA1A_ENST00000380573.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A84T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A84T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A84T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A84T			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	154					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)	TCGAAGATGGCGGAGAAGGGC	0.627																																						ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(250-252)Gcc>Acc		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)						157	156	157					8																	26722237		2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26722237C>T	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.250G>A	8.37:g.26722237C>T	ENSP00000430793:p.Ala84Thr					ADRA1A_ENST00000380581.2_Missense_Mutation_p.A84T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A84T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A84T|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A84T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A84T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A84T	p.A84T			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	2	1273	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	84					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.250G>A		.	.	.	.	.	.	.	.	.	.	C	27.5	4.836309	0.91117	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.057498	0.64402	D	0.000001	T	0.57504	0.2058	L	0.61387	1.9	0.80722	D	1	D;D;D;D;P;D	0.89917	0.992;0.992;0.997;0.998;0.944;1.0	P;P;D;D;B;D	0.67900	0.875;0.875;0.918;0.923;0.284;0.954	T	0.61337	-0.7083	10	0.66056	D	0.02	.	17.898	0.88895	0.0:1.0:0.0:0.0	.	84;84;84;84;84;84	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	T	84	ENSP00000369960:A84T;ENSP00000369961:A84T;ENSP00000369956:A84T;ENSP00000369955:A84T;ENSP00000430793:A84T;ENSP00000346557:A84T;ENSP00000276393:A84T;ENSP00000369947:A84T;ENSP00000369946:A84T;ENSP00000351725:A84T	ENSP00000276393:A84T	A	-	1	0	ADRA1A	26778154	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	7.776000	0.85560	2.365000	0.80145	0.563000	0.77884	GCC		0.627	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		6	554	0	0	0	1	0	6	554					T	26722237	C	T	26722237	3	4	88	1	0	0	0	0	1	0	0	0	334	768	27	1	1449	1	ADRA1A	8	26722237	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		26722237	119641785	94	33254											
SNTG1	54212	broad.mit.edu	37	chr8	51664572	51664572	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	cccctttaggctgtcctttgGaggtataaattctctcagct	8	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:51664572G>C	ENST00000522124.1	+	18	1957	c.1296G>C	c.(1294-1296)tgG>tgC	p.W432C	SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.W432C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	432					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)				CTGTCCTTTGGAGGTATAAAT	0.333																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1294-1296)tgG>tgC		syntrophin, gamma 1							124	129	127					8																	51664572		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51664572G>C	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.1296G>C	8.37:g.51664572G>C	ENSP00000429842:p.Trp432Cys					SNTG1_ENST00000276467.5_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.W432C|SNTG1_ENST00000517473.1_Intron	p.W432C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			18	1957	+		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)	432					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1296G>C	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560557	0.65538	.	.	ENSG00000147481	ENST00000518864;ENST00000522124	T;T	0.78816	-1.21;-1.21	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.74467	2.265	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.89183	0.3545	10	0.87932	D	0	-14.0967	17.8066	0.88602	0.0:0.0:1.0:0.0	.	432	Q9NSN8	SNTG1_HUMAN	C	432	ENSP00000429276:W432C;ENSP00000429842:W432C	ENSP00000429276:W432C	W	+	3	0	SNTG1	51827125	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.157000	0.94714	2.501000	0.84356	0.637000	0.83480	TGG		0.333	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			110	411	0	0	0	1	0	110	411					C	51664572	G	C	51664572	3	2	88	1	0	0	0	0	1	0	0	0	14924	1183	41	5	1358	5	SNTG1	8	51664572	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	24942335	51664572	94699450	95	33255											
OPRK1	4986	broad.mit.edu	37	chr8	54163405	54163405	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gacgaacactacggagtagaCcgccgtgatgatgaccggga	14	10	0	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:54163405C>G	ENST00000265572.3	-	2	490	c.193G>C	c.(193-195)Gtc>Ctc	p.V65L	OPRK1_ENST00000520287.1_Missense_Mutation_p.V65L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	65					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACGGAGTAGACCGCCGTGATG	0.701																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(193-195)Gtc>Ctc		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						43	34	37					8																	54163405		2203	4298	6501	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54163405C>G		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.193G>C	8.37:g.54163405C>G	ENSP00000265572:p.Val65Leu					OPRK1_ENST00000520287.1_Missense_Mutation_p.V65L	p.V65L	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			2	490	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	65					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.193G>C	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781523	0.90282	.	.	ENSG00000082556	ENST00000265572;ENST00000520287;ENST00000396798	T;T	0.35421	1.31;1.31	4.93	4.93	0.64822	.	0.124940	0.56097	D	0.000033	T	0.28830	0.0715	L	0.42245	1.32	0.80722	D	1	B	0.13594	0.008	B	0.16722	0.016	T	0.10520	-1.0626	10	0.02654	T	1	.	16.1573	0.81676	0.0:1.0:0.0:0.0	.	65	P41145	OPRK_HUMAN	L	65;65;51	ENSP00000265572:V65L;ENSP00000429706:V65L	ENSP00000265572:V65L	V	-	1	0	OPRK1	54325958	0.999000	0.42202	0.962000	0.40283	0.954000	0.61252	4.205000	0.58466	2.586000	0.87340	0.456000	0.33151	GTC		0.701	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			134	193	0	0	0	1	0	134	193					G	54163405	C	G	54163405	3	3	88	1	0	0	0	0	1	0	0	0	10927	507	18	5	961	5	OPRK1	8	54163405	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2498833	54163405	92200617	96	33256											
MOS	4342	broad.mit.edu	37	chr8	57025772	57025772	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataaatgtcggctttaggcGtcacgccctctcctttcagg	9	12	3	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:57025772G>A	ENST00000311923.1	-	1	769	c.770C>T	c.(769-771)aCg>aTg	p.T257M		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGCTTTAGGCGTCACGCCCTC	0.572																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(769-771)aCg>aTg		v-mos Moloney murine sarcoma viral oncogene homolog							59	64	62					8																	57025772		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025772G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.770C>T	8.37:g.57025772G>A	ENSP00000310722:p.Thr257Met						p.T257M	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	769	-			257			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.770C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623610	0.46840	.	.	ENSG00000172680	ENST00000311923	D	0.94613	-3.47	5.8	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063339	0.64402	D	0.000005	D	0.97770	0.9268	M	0.92412	3.305	0.49582	D	0.999808	D	0.89917	1.0	D	0.79784	0.993	D	0.98669	1.0687	10	0.87932	D	0	.	14.8663	0.70419	0.0686:0.0:0.9314:0.0	.	257	P00540	MOS_HUMAN	M	257	ENSP00000310722:T257M	ENSP00000310722:T257M	T	-	2	0	MOS	57188326	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	9.281000	0.95811	1.470000	0.48102	0.561000	0.74099	ACG		0.572	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		102	382	0	0	0	1	0	102	382					A	57025772	G	A	57025772	3	1	88	1	0	0	0	0	1	0	0	0	9753	1145	40	1	273	1	MOS	8	57025772	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2862367	57025772	89338250	97	33257											
CDH17	1015	broad.mit.edu	37	chr8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctggtgacctgctggccGgaaacaacttccttccacac	9	14	1	1	rs199497492		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000450165.2_Missense_Mutation_p.R774W|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	774	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R774W(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448																																						ENST00000027335.3																			1	Substitution - Missense(1)	p.R774W(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2320-2322)Cgg>Tgg		cadherin 17, LI cadherin (liver-intestine)							78	73	75					8																	95142932		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95142932G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2320C>T	8.37:g.95142932G>A	ENSP00000027335:p.Arg774Trp					CDH17_ENST00000450165.2_Missense_Mutation_p.R774W|CDH17_ENST00000441892.2_Intron	p.R774W	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		17	2444	-	Breast(36;4.65e-06)		774			Cadherin 7.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.2320C>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417426	0.25552	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.58358	0.34;0.34	5.84	2.83	0.33086	Cadherin (1);	0.561125	0.16175	N	0.226091	T	0.46014	0.1371	L	0.56769	1.78	0.27273	N	0.95831	D	0.63046	0.992	B	0.40534	0.332	T	0.37549	-0.9701	10	0.37606	T	0.19	-0.1227	11.2752	0.49163	0.0:0.0:0.5163:0.4836	.	774	Q12864	CAD17_HUMAN	W	774	ENSP00000027335:R774W;ENSP00000401468:R774W	ENSP00000027335:R774W	R	-	1	2	CDH17	95212108	0.965000	0.33210	0.969000	0.41365	0.045000	0.14185	1.376000	0.34306	0.760000	0.33108	-0.282000	0.10007	CGG		0.448	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		5	287	0	0	0	1	0	5	287					A	95142932	G	A	95142932	3	1	88	1	0	0	0	0	1	0	0	0	3111	1115	39	1	186	1	CDH17	8	95142932	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	38117160	95142932	51221090	98	33258											
SNTB1	6641	broad.mit.edu	37	chr8	121644818	121644818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggatggcactgaaccatgCctgggccgtggctgagtcct	14	11	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:121644818C>T	ENST00000395601.3	-	4	1276	c.862G>A	c.(862-864)Gca>Aca	p.A288T	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.A288T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	288	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)			CTGAACCATGCCTGGGCCGTG	0.552																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(862-864)Gca>Aca		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							126	110	115					8																	121644818		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121644818C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.862G>A	8.37:g.121644818C>T	ENSP00000378965:p.Ala288Thr					SNTB1_ENST00000517992.1_Missense_Mutation_p.A288T|SNTB1_ENST00000519177.1_5'UTR	p.A288T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1276	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		288			PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.862G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270243	0.59540	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.54675	0.56;0.56	6.03	6.03	0.97812	Pleckstrin homology domain (2);	0.098404	0.64402	D	0.000001	T	0.50171	0.1600	L	0.45581	1.43	0.54753	D	0.999987	B;B	0.28350	0.017;0.208	B;B	0.26310	0.013;0.068	T	0.36286	-0.9754	10	0.30854	T	0.27	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	288;288	Q13884;Q13884-2	SNTB1_HUMAN;.	T	288	ENSP00000378965:A288T;ENSP00000431124:A288T	ENSP00000378965:A288T	A	-	1	0	SNTB1	121713999	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.745000	0.47459	2.868000	0.98415	0.555000	0.69702	GCA		0.552	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		5	378	0	0	0	1	0	5	378					T	121644818	C	T	121644818	3	4	88	1	0	0	0	0	1	0	0	0	14922	739	26	2	774	2	SNTB1	8	121644818	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	26501886	121644818	24719204	99	33259											
WDR67	93594	broad.mit.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T													aacaccaagttttcttacagINStttttttttcaccatcggaa					rs570441854		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31							centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTTCTTACAGTTTTTTTTTCA	0.322																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31			,	6,4258		0,6,2126					,	5.7	1			76	8,8246		0,8,4119	no	frameshift-near-splice,frameshift-near-splice	WDR67	NM_145647.3,NM_001145088.1	,	0,14,6245	A1A1,A1R,RR		0.0969,0.1407,0.1118	,	,		14,12504				SO:0001630	splice_region_variant	93594							g.chr8:124140520_124140521insT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1->T	8.37:g.124140529_124140529dupT						TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site|TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000522420.1_Splice_Site		NM_145647.3	NP_663622.2					14	1974_1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	INS	ENST00000287380.1	37		CCDS6338.1																																																																																				0.322	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Intron	8	391						8	391	---	---	---	---	T	124140521	-	T	124140520	8	5	88	1	0	1	1	0	0	0	1	0	17372	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	2495702	124140520	22223502	100	33260											
ZHX1	11244	broad.mit.edu	37	chr8	124266775	124266775	+	Frame_Shift_Del	DEL	T	T	-													ctgccagttgctcttttgtcTtttttgcccgaatgccaaat							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr8:124266775delT	ENST00000522655.1	-	3	1952	c.1412delA	c.(1411-1413)aagfs	p.K471fs	ZHX1_ENST00000297857.2_Frame_Shift_Del_p.K471fs|ZHX1_ENST00000395571.3_Frame_Shift_Del_p.K471fs|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	471	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)			CTCTTTTGTCTTTTTTGCCCG	0.393																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1411-1413)agfs		zinc fingers and homeoboxes 1							136	146	143					8																	124266775		2203	4299	6502	SO:0001589	frameshift_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124266775delT	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.1412delA	8.37:g.124266775delT	ENSP00000428821:p.Lys471fs					ZHX1_ENST00000522655.1_Frame_Shift_Del_p.K471fs|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Frame_Shift_Del_p.K471fs	p.K471fs	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2029	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		471			Required for interaction with NFYA.		Q8IWD8	Frame_Shift_Del	DEL	ENST00000522655.1	37	c.1412delA	CCDS6342.1																																																																																				0.393	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			8	1380						8	1380	---	---	---	---	-	124266775	T	-	124266775	7	5	88	1	0	1	0	1	0	0	0	0	17728	1609	56	0	1213	0	ZHX1	8	124266775	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	126255	124266775	22097247	101	33261											
FRMPD1	22844	broad.mit.edu	37	chr9	37708409	37708409	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacaggaggctctgctcaCggcaagcttttccctggtga	11	13	2	1	rs368503284		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:37708409C>T	ENST00000539465.1	+	4	866	c.273C>T	c.(271-273)caC>caT	p.H91H	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.H91H			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	91	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					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)		GCTCTGCTCACGGCAAGCTTT	0.493																																						ENST00000539465.1																			0				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						c.(271-273)caC>caT		FERM and PDZ domain containing 1		C		0,4406		0,0,2203	129	118	122		273	-4.8	0.9	9		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FRMPD1	NM_014907.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		91/1579	37708409	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37708409C>T	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.273C>T	9.37:g.37708409C>T						RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.H91H	p.H91H			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	4	866	+			91			PDZ.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.273C>T	CCDS6612.1																																																																																				0.493	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		149	369	0	0	0	1	0	149	369					T	37708409	C	T	37708409	2	4	88	1	0	0	0	0	0	0	0	1	6084	535	19	1		1	FRMPD1	9	37708409	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		37708409	103505022	102	33262											
FKBP15	23307	broad.mit.edu	37	chr9	115969556	115969556	+	Frame_Shift_Del	DEL	T	T	-													gctcatggtggctggtgctgTttttggtgttgcctgatttc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:115969556delT	ENST00000238256.3	-	3	307	c.190delA	c.(190-192)acafs	p.T64fs	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	64					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(190-192)cafs		FK506 binding protein 15, 133kDa							333	353	347					9																	115969556		2103	4234	6337	SO:0001589	frameshift_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115969556delT	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.190delA	9.37:g.115969556delT	ENSP00000238256:p.Thr64fs					FKBP15_ENST00000493847.1_5'UTR	p.T64fs	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			3	307	-			64					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Frame_Shift_Del	DEL	ENST00000238256.3	37	c.190delA	CCDS48007.1																																																																																				0.418	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		8	1408						8	1408	---	---	---	---	-	115969556	T	-	115969556	7	5	88	1	0	1	0	1	0	0	0	0	5930	1725	60	0	3573	0	FKBP15	9	115969556	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	78261147	115969556	25243875	103	33263											
GARNL3	84253	broad.mit.edu	37	chr9	130145778	130145778	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttggttcaaccttcTgcgtcagatttccagttctg	7	10	5	1	rs201763226	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:130145778T>G	ENST00000373387.4	+	23	2575	c.2223T>G	c.(2221-2223)tcT>tcG	p.S741S	GARNL3_ENST00000435213.2_Silent_p.S719S|GARNL3_ENST00000314904.5_Silent_p.S741S|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	741	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTCAACCTTCTGCGTCAGATT	0.388																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(2221-2223)tcT>tcG		GTPase activating Rap/RanGAP domain-like 3							111	104	107					9																	130145778		2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130145778T>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2223T>G	9.37:g.130145778T>G						GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Silent_p.S719S|GARNL3_ENST00000314904.5_Silent_p.S741S	p.S741S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			23	2575	+			741			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.2223T>G	CCDS6869.2																																																																																				0.388	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		15	284	0	0	0	1	0	15	284					G	130145778	T	G	130145778	2	3	88	1	0	0	0	0	0	0	0	1	6269	1567	55	4		4	GARNL3	9	130145778	Silent	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	14176222	130145778	11067653	104	33264											
EHMT1	79813	broad.mit.edu	37	chr9	140671243	140671243	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccgtgacaccagtcccCgggcaggagaagggctcggc	15	14	0	2	rs374533940		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr9:140671243C>T	ENST00000460843.1	+	12	1992	c.1965C>T	c.(1963-1965)ccC>ccT	p.P655P	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.P655P|EHMT1_ENST00000334856.6_Silent_p.P624P	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	655					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)		CACCAGTCCCCGGGCAGGAGA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16849	0.0		0.0	False		,,,				2504	0.001					ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1963-1965)ccC>ccT		euchromatic histone-lysine N-methyltransferase 1		C	,	0,4406		0,0,2203	79	70	73		1965,1965	-5.7	0.1	9		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EHMT1	NM_001145527.1,NM_024757.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	655/809,655/1299	140671243	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140671243C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1965C>T	9.37:g.140671243C>T						EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Silent_p.P655P|EHMT1_ENST00000334856.6_Silent_p.P624P	p.P655P	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	12	1992	+	all_cancers(76;0.164)		655					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	ENST00000460843.1	37	c.1965C>T	CCDS7050.2																																																																																				0.627	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		79	230	0	0	0	1	0	79	230					T	140671243	C	T	140671243	2	4	88	1	0	0	0	0	0	0	0	1	4999	639	23	1		1	EHMT1	9	140671243	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	10525465	140671243	542188	105	33265											
KIAA1217	56243	broad.mit.edu	37	chr10	24813298	24813298	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacggacgcagcccaagccGcacagtacatggctatggaa	12	13	0	0	rs141384251		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:24813298G>A	ENST00000376454.3	+	13	2533	c.2503G>A	c.(2503-2505)Gca>Aca	p.A835T	KIAA1217_ENST00000376452.3_Missense_Mutation_p.A800T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A518T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A755T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A518T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A800T|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A518T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A518T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	835					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						AGCCCAAGCCGCACAGTACAT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		19124	0.0		0.001	False		,,,				2504	0.0					ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1552-1554)Gca>Aca		KIAA1217		G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	72	73	73		2263,2398,2503	5.6	0.7	10	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	755/1265,800/1310,835/1944	24813298	1,13005	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813298G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2503G>A	10.37:g.24813298G>A	ENSP00000365637:p.Ala835Thr					KIAA1217_ENST00000307544.6_Missense_Mutation_p.A518T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A800T|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A518T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A800T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A518T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A835T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A755T	p.A518T			Q5T5P2	SKT_HUMAN			8	1812	+			835					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1552G>A	CCDS31165.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.58	3.425433	0.62733	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.61	5.61	0.85477	.	0.390087	0.26673	N	0.023096	T	0.63733	0.2536	L	0.43152	1.355	0.32361	N	0.557113	D;P;D;P;D;D;D;P	0.89917	0.996;0.765;0.989;0.525;0.998;0.996;1.0;0.601	P;B;P;B;P;P;D;B	0.85130	0.612;0.172;0.473;0.164;0.769;0.473;0.997;0.086	T	0.67852	-0.5563	10	0.39692	T	0.17	.	12.9073	0.58160	0.0743:0.0:0.9257:0.0	.	800;800;518;518;518;518;835;835	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	755;800;800;518;835;800;650;518;518;518;518;518	ENSP00000365645:A755T;ENSP00000365639:A800T;ENSP00000392625:A800T;ENSP00000365637:A835T;ENSP00000365635:A800T;ENSP00000404798:A650T;ENSP00000302343:A518T;ENSP00000379722:A518T;ENSP00000365634:A518T;ENSP00000379723:A518T	ENSP00000302343:A518T	A	+	1	0	KIAA1217	24853304	0.085000	0.21516	0.747000	0.31113	0.171000	0.22731	1.526000	0.35964	2.643000	0.89663	0.561000	0.74099	GCA		0.582	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		5	476	0	0	0	1	0	5	476					A	24813298	G	A	24813298	3	1	88	1	0	0	0	0	1	0	0	0	8246	1087	38	1	2553	1	KIAA1217	10	24813298	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		24813298	110721449	106	33266											
GAD2	2572	broad.mit.edu	37	chr10	26589858	26589858	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagacattgacttcctgattGaagaaatagaacgccttgga	9	7	0	6			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:26589858G>A	ENST00000376261.3	+	16	2229	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	GAD2_ENST00000259271.3_Missense_Mutation_p.E576K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	576					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCCTGATTGAAGAAATAGA	0.438																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1726-1728)Gaa>Aaa		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						119	116	117					10																	26589858		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26589858G>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1726G>A	10.37:g.26589858G>A	ENSP00000365437:p.Glu576Lys					GAD2_ENST00000259271.3_Missense_Mutation_p.E576K	p.E576K	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			16	2229	+			576					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1726G>A	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366041	0.61513	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.39592	1.07;1.07	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.173449	0.53938	D	0.000050	T	0.37865	0.1019	L	0.35542	1.07	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.08269	-1.0730	10	0.46703	T	0.11	-27.4343	19.8579	0.96771	0.0:0.0:1.0:0.0	.	576	Q05329	DCE2_HUMAN	K	576	ENSP00000365437:E576K;ENSP00000259271:E576K	ENSP00000259271:E576K	E	+	1	0	GAD2	26629864	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.687000	0.91594	0.655000	0.94253	GAA		0.438	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		38	486	0	0	0	1	0	38	486					A	26589858	G	A	26589858	3	1	88	1	0	0	0	0	1	0	0	0	6207	1291	45	2	1788	2	GAD2	10	26589858	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1776560	26589858	108944889	107	33267											
PTCHD3	374308	broad.mit.edu	37	chr10	27702453	27702453	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctggcttcccttttcccGcgccacgcgcagatcctgca	9	17	1	1	rs549609218		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:27702453G>A	ENST00000438700.3	-	1	844	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	243					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						CCCTTTTCCCGCGCCACGCGC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17664	0.0		0.0	False		,,,				2504	0.0					ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(727-729)Cgg>Tgg		patched domain containing 3							39	41	41					10																	27702453		2203	4300	6503	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702453G>A	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.727C>T	10.37:g.27702453G>A	ENSP00000417658:p.Arg243Trp						p.R243W	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	844	-			243					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.727C>T	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524459	0.27299	.	.	ENSG00000182077	ENST00000438700	D	0.85702	-2.02	3.93	-0.963	0.10330	.	3.428320	0.00760	N	0.001132	T	0.75258	0.3825	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.09377	0.004	T	0.63985	-0.6513	10	0.66056	D	0.02	-0.2446	14.3009	0.66352	0.0:0.7511:0.2489:0.0	.	243	Q3KNS1	PTHD3_HUMAN	W	243	ENSP00000417658:R243W	ENSP00000417658:R243W	R	-	1	2	PTCHD3	27742459	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.661000	0.05311	-0.023000	0.13963	-0.311000	0.09066	CGG		0.627	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		78	225	0	0	0	1	0	78	225					A	27702453	G	A	27702453	3	1	88	1	0	0	0	0	1	0	0	0	12781	1086	38	1	1592	1	PTCHD3	10	27702453	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1112595	27702453	107832294	108	33268											
RBP3	5949	broad.mit.edu	37	chr10	48388884	48388884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgggccagcttggccCgcaggagggcactggtctgc	16	15	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:48388884C>T	ENST00000224600.4	-	1	2107	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	665	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGCTTGGCCCGCAGGAGGGC	0.677																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1993-1995)cGg>cAg		retinol binding protein 3, interstitial	Vitamin A(DB00162)						21	24	23					10																	48388884		2201	4290	6491	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388884C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1994G>A	10.37:g.48388884C>T	ENSP00000224600:p.Arg665Gln						p.R665Q	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2107	-			665			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1994G>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.163647	0.00318	.	.	ENSG00000107618	ENST00000224600	T	0.61859	0.07	5.53	-2.86	0.05717	.	1.155020	0.06333	N	0.706523	T	0.31009	0.0783	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.22871	-1.0204	10	0.13853	T	0.58	-0.4135	11.9866	0.53151	0.0:0.379:0.0:0.621	.	665	P10745	RET3_HUMAN	Q	665	ENSP00000224600:R665Q	ENSP00000224600:R665Q	R	-	2	0	RBP3	48008890	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.070000	0.03440	-0.584000	0.05913	-0.254000	0.11334	CGG		0.677	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		58	160	0	0	0	1	0	58	160					T	48388884	C	T	48388884	3	4	88	1	0	0	0	0	1	0	0	0	13207	652	23	1	1765	1	RBP3	10	48388884	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	20686431	48388884	87145863	109	33269											
AGAP6	414189	broad.mit.edu	37	chr10	51761817	51761817	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacaatattccttgatgacaGcacagccatccagcattatc	6	12	0	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:51761817G>A	ENST00000374056.4	+	4	787	c.389G>A	c.(388-390)aGc>aAc	p.S130N	AGAP6_ENST00000412531.3_Missense_Mutation_p.S153N			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	130					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						CTTGATGACAGCACAGCCATC	0.388																																						ENST00000374056.4																			0				NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(388-390)aGc>aAc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6																																				SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51761817G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23466	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 3"	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.389G>A	10.37:g.51761817G>A	ENSP00000363168:p.Ser130Asn					AGAP6_ENST00000412531.3_Missense_Mutation_p.S153N	p.S130N			C9IYN2	C9IYN2_HUMAN			4	787	+			153						Missense_Mutation	SNP	ENST00000374056.4	37	c.389G>A		.	.	.	.	.	.	.	.	.	.	.	9.912	1.209868	0.22289	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	1.7	0.76	0.18442	.	0.122623	0.53938	D	0.000053	T	0.33556	0.0867	M	0.74647	2.275	0.18873	N	0.999983	B	0.33694	0.421	B	0.19666	0.026	T	0.17077	-1.0381	9	0.36615	T	0.2	.	7.338	0.26621	0.1628:0.0:0.8372:0.0	.	153	C9IYN2	.	N	153;130	.	ENSP00000363168:S153N	S	+	2	0	AGAP6	51431823	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	3.332000	0.52083	0.191000	0.20236	-1.109000	0.02080	AGC		0.388	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		6	568	0	0	0	1	0	6	568					A	51761817	G	A	51761817	3	1	88	1	0	0	0	0	1	0	0	0	372	971	34	2	476	2	AGAP6	10	51761817	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3372933	51761817	83772930	110	33270											
SLIT1	6585	broad.mit.edu	37	chr10	98764503	98764503	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcgtagctgacacgcacatgGccctggtacagctcaactgc	10	14	1	1	rs199563334		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:98764503G>C	ENST00000266058.4	-	33	3902	c.3657C>G	c.(3655-3657)ggC>ggG	p.G1219G	SLIT1_ENST00000371070.4_Silent_p.G1219G|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1219	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACGCACATGGCCCTGGTACA	0.597																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(3655-3657)ggC>ggG		slit homolog 1 (Drosophila)							274	194	221					10																	98764503		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98764503G>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3657C>G	10.37:g.98764503G>C						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.G1219G	p.G1219G	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	33	3902	-		Colorectal(252;0.162)	1219			Laminin G-like.		Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.3657C>G	CCDS7453.1																																																																																				0.597	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		86	195	0	0	0	1	0	86	195					C	98764503	G	C	98764503	2	2	88	1	0	0	0	0	0	0	0	1	14789	1190	42	5		5	SLIT1	10	98764503	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	47002686	98764503	36770244	111	33271											
GBF1	8729	broad.mit.edu	37	chr10	104117903	104117903	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtcacaccaggttcagagctGcccactcccaatggaaccac	8	16	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:104117903G>T	ENST00000369983.3	+	9	1007	c.747G>T	c.(745-747)ctG>ctT	p.L249L		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	249					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)		GTTCAGAGCTGCCCACTCCCA	0.507																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(745-747)ctG>ctT		golgi brefeldin A resistant guanine nucleotide exchange factor 1							205	202	203					10																	104117903		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104117903G>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.747G>T	10.37:g.104117903G>T							p.L249L	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	9	1007	+		Colorectal(252;0.0236)	249					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.747G>T	CCDS7533.1																																																																																				0.507	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			240	781	1	0	3.0798e-103	1	3.25934e-103	240	781					T	104117903	G	T	104117903	2	4	88	1	0	0	0	0	0	0	0	1	6299	1306	46	3		3	GBF1	10	104117903	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5353400	104117903	31416844	112	33272											
SORCS1	114815	broad.mit.edu	37	chr10	108412204	108412204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcagctttccatcagccGtgactatccgcagcccccgc	8	18	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr10:108412204G>A	ENST00000263054.6	-	18	2418	c.2411C>T	c.(2410-2412)aCg>aTg	p.T804M	SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M|SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	804	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)		TCCATCAGCCGTGACTATCCG	0.532																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2410-2412)aCg>aTg		sortilin-related VPS10 domain containing receptor 1							117	106	110					10																	108412204		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412204G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2411C>T	10.37:g.108412204G>A	ENSP00000263054:p.Thr804Met					SORCS1_ENST00000344440.6_Missense_Mutation_p.T804M|SORCS1_ENST00000369698.1_Missense_Mutation_p.T339M	p.T804M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2418	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	804			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2411C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231893	0.58777	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.69561	-0.41;-0.41;-0.41	5.74	5.74	0.90152	PKD/Chitinase domain (1);PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.80924	0.4717	L	0.61218	1.895	0.54753	D	0.999989	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;0.993;0.997;0.998;0.997	T	0.78580	-0.2149	9	.	.	.	-17.2727	19.9145	0.97053	0.0:0.0:1.0:0.0	.	804;804;804;804;804	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	M	339;804;804	ENSP00000358712:T339M;ENSP00000263054:T804M;ENSP00000345964:T804M	.	T	-	2	0	SORCS1	108402194	1.000000	0.71417	0.959000	0.39883	0.138000	0.21146	9.277000	0.95755	2.709000	0.92574	0.655000	0.94253	ACG		0.532	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		135	314	0	0	0	1	0	135	314					A	108412204	G	A	108412204	3	1	88	1	0	0	0	0	1	0	0	0	14980	1145	40	1	1365	1	SORCS1	10	108412204	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	4294301	108412204	27122543	113	33273											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643019	1643019	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccttggagcccccacaggagCcacagccccccttggaaccc	9	20	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:1643019C>A	ENST00000399682.1	-	1	349	c.305G>T	c.(304-306)gGc>gTc	p.G102V		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.682																																						ENST00000399682.1																			0				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(304-306)gGc>gTc		keratin associated protein 5-4							6	13	11					11																	1643019		636	1498	2134	SO:0001583	missense	387267					keratin filament		g.chr11:1643019C>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"Keratin associated proteins"	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.305G>T	11.37:g.1643019C>A	ENSP00000382590:p.Gly102Val						p.G102V	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	349	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	102			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.305G>T		.	.	.	.	.	.	.	.	.	.	C	4.611	0.113571	0.08831	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00792	5.69	2.85	2.85	0.33270	.	.	.	.	.	T	0.02727	0.0082	M	0.68952	2.095	0.43003	D	0.994524	D	0.69078	0.997	D	0.63488	0.915	T	0.61163	-0.7118	9	0.40728	T	0.16	.	11.4441	0.50112	0.0:1.0:0.0:0.0	.	162	Q6L8H1	KRA54_HUMAN	V	102	ENSP00000382590:G102V	ENSP00000331603:G102V	G	-	2	0	KRTAP5-4	1599595	0.475000	0.25894	0.999000	0.59377	0.233000	0.25261	0.704000	0.25661	1.573000	0.49748	0.579000	0.79373	GGC		0.682	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		13	1233	1	0	2.25844e-05	1	2.29737e-05	13	1233					A	1643019	C	A	1643019	3	1	88	1	0	0	0	0	1	0	0	0	8594	739	26	3	385	3	KRTAP5-4	11	1643019	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		1643019	133363497	114	33274											
NAV2	89797	broad.mit.edu	37	chr11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G													ttgccagcttcatccccaaaINSggggggaagctcaacagtgc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:19955425_19955426insG	ENST00000396087.3	+	8	1803_1804	c.1704_1705insG	c.(1705-1707)gggfs	p.G569fs	NAV2_ENST00000360655.4_Frame_Shift_Ins_p.G482fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.G498fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.G500fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.G546fs|NAV2_ENST00000396085.1_Frame_Shift_Ins_p.G546fs	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	569					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						TCATCCCCAAAGGGGGGAAGCT	0.554																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(1633-1638)aaggggfs		neuron navigator 2																																				SO:0001589	frameshift_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955425_19955426insG	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.1710dupG	11.37:g.19955431_19955431dupG	ENSP00000379396:p.Gly569fs					NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs	p.KG545fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			7	1996_1997	+			568					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Frame_Shift_Ins	INS	ENST00000396087.3	37	c.1635_1636insG	CCDS58126.1																																																																																				0.554	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		7	676						7	676	---	---	---	---	G	19955426	-	G	19955425	7	5	88	1	0	1	1	0	0	0	0	0	10225	69	3	0	1740	0	NAV2	11	19955425	Frame_Shift_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	18312406	19955425	115051091	115	33275											
ANO3	63982	broad.mit.edu	37	chr11	26463589	26463589	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccagtctacttccctcttCcagtcaaccgagagtgaatc	7	14	3	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:26463589C>A	ENST00000256737.3	+	2	1023	c.171C>A	c.(169-171)ttC>ttA	p.F57L	ANO3_ENST00000531646.1_Missense_Mutation_p.F57L|ANO3_ENST00000525139.1_Missense_Mutation_p.F41L|ANO3_ENST00000537978.1_Missense_Mutation_p.F41L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	57					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						CTTCCCTCTTCCAGTCAACCG	0.468																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(169-171)ttC>ttA		anoctamin 3							162	165	164					11																	26463589		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26463589C>A	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.171C>A	11.37:g.26463589C>A	ENSP00000256737:p.Phe57Leu					ANO3_ENST00000537978.1_Missense_Mutation_p.F41L|ANO3_ENST00000531646.1_Missense_Mutation_p.F57L|ANO3_ENST00000525139.1_Missense_Mutation_p.F41L	p.F57L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			2	1023	+			57					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.171C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146527	0.21288	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.24	1.93	0.25924	.	0.141341	0.49916	D	0.000138	T	0.30230	0.0758	N	0.03608	-0.345	0.27524	N	0.951301	B	0.02656	0.0	B	0.01281	0.0	T	0.19063	-1.0317	10	0.10902	T	0.67	.	6.8171	0.23837	0.0:0.6403:0.0:0.3597	.	57	Q9BYT9	ANO3_HUMAN	L	41;41;57;57	ENSP00000440737:F41L;ENSP00000432576:F41L;ENSP00000256737:F57L;ENSP00000435275:F57L	ENSP00000256737:F57L	F	+	3	2	ANO3	26420165	0.978000	0.34361	1.000000	0.80357	0.958000	0.62258	-0.158000	0.10070	0.268000	0.21939	0.650000	0.86243	TTC		0.468	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		239	591	1	0	6.35764e-115	1	6.75857e-115	239	591					A	26463589	C	A	26463589	3	1	88	1	0	0	0	0	1	0	0	0	698	854	30	3	177	3	ANO3	11	26463589	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	6508164	26463589	108542927	116	33276											
LPXN	9404	broad.mit.edu	37	chr11	58317463	58317463	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacatccaggatgggagcagCgcagtaagcacagcgtggag	15	9	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:58317463C>T	ENST00000395074.2	-	6	731	c.643G>A	c.(643-645)Gct>Act	p.A215T	LPXN_ENST00000528954.1_Missense_Mutation_p.A220T|LPXN_ENST00000528489.1_Missense_Mutation_p.A195T	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	215	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGGGAGCAGCGCAGTAAGCA	0.493																																						ENST00000528954.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(658-660)Gct>Act		leupaxin							101	97	99					11																	58317463		2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58317463C>T	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.643G>A	11.37:g.58317463C>T	ENSP00000378512:p.Ala215Thr					LPXN_ENST00000528489.1_Missense_Mutation_p.A195T|LPXN_ENST00000395074.2_Missense_Mutation_p.A215T	p.A220T	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN			6	777	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	215			LIM zinc-binding 2.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.658G>A	CCDS7969.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194268	0.58017	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.87029	-2.2;-2.2	5.95	5.95	0.96441	Zinc finger, LIM-type (5);	0.121122	0.64402	D	0.000017	D	0.84973	0.5591	N	0.21373	0.66	0.41615	D	0.988935	P;D;P	0.71674	0.845;0.998;0.853	B;P;B	0.58130	0.34;0.833;0.439	D	0.84694	0.0724	10	0.52906	T	0.07	.	8.061	0.30633	0.1594:0.7622:0.0:0.0784	.	195;220;215	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	T	220;215	ENSP00000431284:A220T;ENSP00000378512:A215T	ENSP00000378512:A215T	A	-	1	0	LPXN	58074039	0.996000	0.38824	0.831000	0.32960	0.943000	0.58893	3.514000	0.53422	2.824000	0.97209	0.655000	0.94253	GCT		0.493	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		157	352	0	0	0	1	0	157	352					T	58317463	C	T	58317463	3	4	88	1	0	0	0	0	1	0	0	0	8967	768	27	1	533	1	LPXN	11	58317463	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	31853874	58317463	76689053	117	33277											
PLCB3	5331	broad.mit.edu	37	chr11	64031069	64031069	+	Splice_Site	DEL	G	G	-													ctgtctctgccatccgctccGgtgaggccttggtgggctct							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:64031069delG	ENST00000540288.1	+	20	2558	c.2455delG	c.(2455-2457)gga>ga	p.G819fs	PLCB3_ENST00000279230.6_Splice_Site_p.G819fs|PLCB3_ENST00000325234.5_Splice_Site_p.G752fs	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	819					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						CATCCGCTCCGGTGAGGCCTT	0.647																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.e20+1		phospholipase C, beta 3 (phosphatidylinositol-specific)							64	45	51					11																	64031069		2201	4297	6498	SO:0001630	splice_region_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64031069delG	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.2455+1G>-	11.37:g.64031069delG						PLCB3_ENST00000279230.6_Splice_Site_p.G819_splice|PLCB3_ENST00000325234.5_Splice_Site_p.G752_splice	p.G819_splice	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			20	2558	+			819					A5PKZ6|G5E960|Q8N1A4	Splice_Site	DEL	ENST00000540288.1	37	c.2455_splice	CCDS8064.1																																																																																				0.647	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		Frame_Shift_Del	58	168						58	168	---	---	---	---	-	64031069	G	-	64031069	8	5	88	1	0	1	0	1	0	0	1	0	12071	1130	39	0	2533	0	PLCB3	11	64031069	Splice_Site	DEL	G	TCGA-IB-A6UF-01A-23D-A33T-08	5713606	64031069	70975447	118	33278											
RBM14	10432	broad.mit.edu	37	chr11	66392698	66392698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccagcagcctacgccGcacaagccactaccccaatg	8	19	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:66392698G>A	ENST00000310137.4	+	2	1490	c.1351G>A	c.(1351-1353)Gca>Aca	p.A451T	RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	451	Ala-rich.				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						AGCCTACGCCGCACAAGCCAC	0.617																																						ENST00000310137.4																		RBM14/PACS1(2)	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1351-1353)Gca>Aca		RNA binding motif protein 14							67	73	71					11																	66392698		2191	4273	6464	SO:0001583	missense	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392698G>A	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.1351G>A	11.37:g.66392698G>A	ENSP00000311747:p.Ala451Thr					RBM14_ENST00000409738.4_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron	p.A451T	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN			2	1490	+			451			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Missense_Mutation	SNP	ENST00000310137.4	37	c.1351G>A	CCDS8147.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503682	0.44558	.	.	ENSG00000239306	ENST00000310137	D	0.83250	-1.7	5.75	5.75	0.90469	.	0.113754	0.64402	D	0.000012	D	0.84906	0.5576	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.86495	0.1800	10	0.72032	D	0.01	-2.6928	15.4418	0.75190	0.0:0.0:1.0:0.0	.	451	Q96PK6	RBM14_HUMAN	T	451	ENSP00000311747:A451T	ENSP00000311747:A451T	A	+	1	0	RBM14	66149274	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	3.650000	0.54424	2.720000	0.93068	0.655000	0.94253	GCA		0.617	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		8	1080	0	0	0	1	0	8	1080					A	66392698	G	A	66392698	3	1	88	1	0	0	0	0	1	0	0	0	13165	1087	38	1	1357	1	RBM14	11	66392698	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2361629	66392698	68613818	119	33279											
IGHMBP2	3508	broad.mit.edu	37	chr11	68675791	68675791	+	Frame_Shift_Del	DEL	C	C	-													cttgccaatgatgtcacttaCaggcgactgaaaaagtaagt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:68675791delC	ENST00000255078.3	+	3	546	c.435delC	c.(433-435)tacfs	p.Y145fs	IGHMBP2_ENST00000539224.1_Frame_Shift_Del_p.Y145fs	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	145					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)			ATGTCACTTACAGGCGACTGA	0.458																																						ENST00000255078.3																			0				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						c.(433-435)tafs		immunoglobulin mu binding protein 2							91	87	88					11																	68675791		2200	4294	6494	SO:0001589	frameshift_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68675791delC	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.435delC	11.37:g.68675791delC	ENSP00000255078:p.Tyr145fs					IGHMBP2_ENST00000539224.1_Frame_Shift_Del_p.Y145fs	p.Y145fs	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	546	+			145					A0PJD2|Q00443|Q14177	Frame_Shift_Del	DEL	ENST00000255078.3	37	c.435delC	CCDS8187.1																																																																																				0.458	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		45	333						45	333	---	---	---	---	-	68675791	C	-	68675791	7	5	88	1	0	1	0	1	0	0	0	0	7621	489	17	0	445	0	IGHMBP2	11	68675791	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	2283093	68675791	66330725	120	33280											
ELMOD1	55531	broad.mit.edu	37	chr11	107526732	107526732	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagcggagctctaaaaAcccatttctacaatatcgcc	7	12	3	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:107526732A>T	ENST00000265840.7	+	11	1037	c.772A>T	c.(772-774)Acc>Tcc	p.T258S	ELMOD1_ENST00000443271.2_Missense_Mutation_p.T250S|ELMOD1_ENST00000531234.1_Missense_Mutation_p.T252S	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	258	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCTCTAAAAACCCATTTCTA	0.373																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(772-774)Acc>Tcc		ELMO/CED-12 domain containing 1							98	91	93					11																	107526732		1864	4093	5957	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107526732A>T	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.772A>T	11.37:g.107526732A>T	ENSP00000265840:p.Thr258Ser					ELMOD1_ENST00000531234.1_Missense_Mutation_p.T252S|ELMOD1_ENST00000443271.2_Missense_Mutation_p.T250S	p.T258S	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	11	1037	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	258			ELMO.		B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.772A>T	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861859	0.51482	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.27720	1.65;1.65;1.65	6.16	6.16	0.99307	Engulfment/cell motility, ELMO (2);	0.141782	0.64402	D	0.000006	T	0.26340	0.0643	L	0.39147	1.195	0.80722	D	1	B;B	0.28470	0.213;0.178	B;B	0.30401	0.115;0.07	T	0.05699	-1.0869	10	0.06365	T	0.9	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	258;250	Q8N336;G5E9S5	ELMD1_HUMAN;.	S	252;258;250	ENSP00000433232:T252S;ENSP00000265840:T258S;ENSP00000412257:T250S	ENSP00000265840:T258S	T	+	1	0	ELMOD1	107031942	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.143000	0.77348	2.367000	0.80283	0.528000	0.53228	ACC		0.373	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		13	17	0	0	0	1	0	13	17					T	107526732	A	T	107526732	3	4	88	1	0	0	0	0	1	0	0	0	5086	43	2	5	810	5	ELMOD1	11	107526732	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	38850941	107526732	27479784	121	33281											
C11orf63	79864	broad.mit.edu	37	chr11	122774816	122774816	+	Frame_Shift_Del	DEL	A	A	-													tcaatggaactctccgggggAaaaggcgagcagaaagagag							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr11:122774816delA	ENST00000531316.1	+	2	620	c.528delA	c.(526-528)ggafs	p.G176fs	C11orf63_ENST00000307257.6_Frame_Shift_Del_p.G176fs|C11orf63_ENST00000227349.2_Frame_Shift_Del_p.G176fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	176					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)		TCTCCGGGGGAAAAGGCGAGC	0.532																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(526-528)ggfs		chromosome 11 open reading frame 63							56	62	60					11																	122774816		2202	4299	6501	SO:0001589	frameshift_variant	79864							g.chr11:122774816delA	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.528delA	11.37:g.122774816delA	ENSP00000431669:p.Gly176fs					C11orf63_ENST00000531316.1_Frame_Shift_Del_p.G176fs|C11orf63_ENST00000307257.6_Frame_Shift_Del_p.G176fs	p.G176fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	825	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	176					A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Del	DEL	ENST00000531316.1	37	c.528delA	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		8	497						8	497	---	---	---	---	-	122774816	A	-	122774816	7	5	88	1	0	1	0	1	0	0	0	0	1659	233	9	0	534	0	C11orf63	11	122774816	Frame_Shift_Del	DEL	A	TCGA-IB-A6UF-01A-23D-A33T-08	15248084	122774816	12231700	122	33282											
ERC1	23085	broad.mit.edu	37	chr12	1292488	1292488	+	Frame_Shift_Del	DEL	A	A	-													gagcatgcttcttctctggcAtcctcaggactgaaaaagga							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:1292488delA	ENST00000397203.2	+	11	2464	c.2058delA	c.(2056-2058)gcafs	p.A686fs	ERC1_ENST00000355446.5_Frame_Shift_Del_p.A686fs|ERC1_ENST00000546231.2_Frame_Shift_Del_p.A686fs|ERC1_ENST00000360905.4_Frame_Shift_Del_p.A686fs|ERC1_ENST00000543086.3_Frame_Shift_Del_p.A658fs|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Frame_Shift_Del_p.A686fs			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	686					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)			CTTCTCTGGCATCCTCAGGAC	0.368																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2056-2058)gcfs		ELKS/RAB6-interacting/CAST family member 1							88	88	88					12																	1292488		2203	4300	6503	SO:0001589	frameshift_variant	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1292488delA	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.2058delA	12.37:g.1292488delA	ENSP00000380386:p.Ala686fs					ERC1_ENST00000589028.1_Frame_Shift_Del_p.A686fs|ERC1_ENST00000543086.3_Frame_Shift_Del_p.A658fs|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000355446.5_Frame_Shift_Del_p.A686fs|ERC1_ENST00000546231.2_Frame_Shift_Del_p.A686fs|ERC1_ENST00000360905.4_Frame_Shift_Del_p.A686fs	p.A686fs			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		11	2464	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		686					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Frame_Shift_Del	DEL	ENST00000397203.2	37	c.2058delA	CCDS8508.1																																																																																				0.368	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		250	365						250	365	---	---	---	---	-	1292488	A	-	1292488	7	5	88	1	0	1	0	1	0	0	0	0	5228	204	8	0	2096	0	ERC1	12	1292488	Frame_Shift_Del	DEL	A	TCGA-IB-A6UF-01A-23D-A33T-08		1292488	132559407	123	33283											
C1R	715	broad.mit.edu	37	chr12	7187985	7187985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggtcccttactgcaaaaaCgcccccactatccccctggc	7	19	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:7187985C>T	ENST00000542285.1	-	11	1962	c.1813G>A	c.(1813-1815)Gtt>Att	p.V605I				P00736	C1R_HUMAN	complement component 1, r subcomponent	657	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGCAAAAACGCCCCCACTA	0.572																																						ENST00000542285.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16						c.(1813-1815)Gtt>Att		complement component 1, r subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						54	60	58					12																	7187985		2041	4216	6257	SO:0001583	missense	715				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7187985C>T	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.1813G>A	12.37:g.7187985C>T	ENSP00000438615:p.Val605Ile						p.V605I			P00736	C1R_HUMAN			11	1962	-			657			Peptidase S1.		A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37	c.1813G>A		.	.	.	.	.	.	.	.	.	.	C	16.64	3.178207	0.57692	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	T	0.41758	0.99	5.7	5.7	0.88788	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.092388	0.46145	D	0.000303	T	0.51483	0.1677	.	.	.	0.30586	N	0.762027	P	0.34934	0.476	B	0.43445	0.42	T	0.56595	-0.7953	9	0.62326	D	0.03	.	19.8479	0.96722	0.0:1.0:0.0:0.0	.	657	P00736	C1R_HUMAN	I	620;605	ENSP00000438615:V605I	ENSP00000290575:V620I	V	-	1	0	C1R	7058240	0.988000	0.35896	0.993000	0.49108	0.102000	0.19082	2.342000	0.43992	2.681000	0.91329	0.655000	0.94253	GTT		0.572	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001733		94	114	0	0	0	1	0	94	114					T	7187985	C	T	7187985	3	4	88	1	0	0	0	0	1	0	0	0	1979	536	19	1	152	1	C1R	12	7187985	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	5895497	7187985	126663910	124	33284											
HIST4H4	121504	broad.mit.edu	37	chr12	14923783	14923783	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccgtgacggtcttgCgcttggcgtgctccgtgtaa	14	12	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:14923783C>T	ENST00000539745.1	-	1	282	c.236G>A	c.(235-237)cGc>cAc	p.R79H	HIST4H4_ENST00000541592.1_5'Flank|RP11-174G6.5_ENST00000562691.2_RNA	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	79					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						GACGGTCTTGCGCTTGGCGTG	0.587											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539745.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						c.(235-237)cGc>cAc		histone cluster 4, H4							108	89	95					12																	14923783		2203	4300	6503	SO:0001583	missense	121504				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr12:14923783C>T	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.236G>A	12.37:g.14923783C>T	ENSP00000443017:p.Arg79His		OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	698		p.R79H	NM_175054.2	NP_778224.1	P62805	H4_HUMAN			1	282	-			79					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000539745.1	37	c.236G>A	CCDS8665.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227488	0.79576	.	.	ENSG00000197837	ENST00000539745	T	0.77358	-1.09	3.99	3.09	0.35607	.	0.000000	0.50627	U	0.000116	T	0.81950	0.4931	.	.	.	0.53005	D	0.999961	.	.	.	.	.	.	T	0.82623	-0.0366	7	0.87932	D	0	.	9.6665	0.39988	0.0:0.8959:0.0:0.1041	.	.	.	.	H	79	ENSP00000443017:R79H	ENSP00000350767:R79H	R	-	2	0	HIST4H4	14815050	1.000000	0.71417	0.991000	0.47740	0.588000	0.36517	5.280000	0.65603	1.035000	0.39972	0.585000	0.79938	CGC		0.587	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400844.1	NM_175054		5	277	0	0	0	1	0	5	277					T	14923783	C	T	14923783	3	4	88	1	0	0	0	0	1	0	0	0	7215	768	27	1	79	1	HIST4H4	12	14923783	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	7735798	14923783	118928112	125	33285											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		67	112	0	0	0	1	0	67	112					G	25398285	C	G	25398285	3	3	88	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	10474502	25398285	108453610	126	33286											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	1	20	5	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	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_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000541463.2_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(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						c.(1843-1845)gaG>gaA		kinesin family member 21A							85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	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						KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		5	202	0	0	0	1	0	5	202					T	39735383	C	T	39735383	2	4	88	1	0	0	0	0	0	0	0	1	8318	680	24	2		2	KIF21A	12	39735383	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	14337098	39735383	94116512	127	33287											
SCN8A	6334	broad.mit.edu	37	chr12	52183167	52183167	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaacctgttcattggtGtcatcattgataacttcaat	6	10	4	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:52183167G>T	ENST00000354534.6	+	24	4562	c.4384G>T	c.(4384-4386)Gtc>Ttc	p.V1462F	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1421F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1462					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)	GTTCATTGGTGTCATCATTGA	0.428																																						ENST00000354534.5																			0				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						c.(4384-4386)Gtc>Ttc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						170	166	167					12																	52183167		2073	4239	6312	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52183167G>T	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.4384G>T	12.37:g.52183167G>T	ENSP00000346534:p.Val1462Phe					SCN8A_ENST00000545061.1_Missense_Mutation_p.V1421F	p.V1462F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	24	4562	+			1462					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4384G>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844393	0.91197	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.99080	-5.4;-5.4;-5.4	4.37	4.37	0.52481	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.989	D	0.98548	1.0635	10	0.87932	D	0	.	18.2498	0.89998	0.0:0.0:1.0:0.0	.	1421;1462	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	F	1462;1421;1421	ENSP00000346534:V1462F;ENSP00000440360:V1421F;ENSP00000347255:V1421F	ENSP00000346534:V1462F	V	+	1	0	SCN8A	50469434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.713000	0.92767	0.655000	0.94253	GTC		0.428	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		130	273	1	0	1.03351e-53	1	1.08404e-53	130	273					T	52183167	G	T	52183167	3	4	88	1	0	0	0	0	1	0	0	0	13974	1377	48	3	4474	3	SCN8A	12	52183167	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	12447784	52183167	81668728	128	33288											
HOXC4	3221	broad.mit.edu	37	chr12	54448134	54448134	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccatggatgaaaaaaattcAcgttagcacgggtaggcaac	10	9	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:54448134A>G	ENST00000430889.2	+	1	474	c.428A>G	c.(427-429)cAc>cGc	p.H143R	HOXC4_ENST00000609810.1_Missense_Mutation_p.H143R|HOXC4_ENST00000303406.4_Missense_Mutation_p.H143R	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	143					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AAAAAAATTCACGTTAGCACG	0.652																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(427-429)cAc>cGc		homeobox C4							26	24	25					12																	54448134		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448134A>G		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.428A>G	12.37:g.54448134A>G	ENSP00000399808:p.His143Arg					HOXC4_ENST00000303406.4_Missense_Mutation_p.H143R	p.H143R	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			1	474	+			143						Missense_Mutation	SNP	ENST00000430889.2	37	c.428A>G	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.949247	0.53186	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.89681	-2.55;-2.55	4.26	4.26	0.50523	Homeodomain-like (1);	0.117106	0.56097	D	0.000028	D	0.95133	0.8423	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.95959	0.8960	10	0.87932	D	0	.	12.7918	0.57539	1.0:0.0:0.0:0.0	.	143	P09017	HXC4_HUMAN	R	143	ENSP00000305973:H143R;ENSP00000399808:H143R	ENSP00000305973:H143R	H	+	2	0	HOXC4	52734401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.711000	0.91396	1.918000	0.55548	0.379000	0.24179	CAC		0.652	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			52	152	0	0	0	1	0	52	152					G	54448134	A	G	54448134	3	3	88	1	0	0	0	0	1	0	0	0	7343	159	6	4	430	4	HOXC4	12	54448134	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	2264967	54448134	79403761	129	33289											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	15	11	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155	155	155					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		7	1362	0	0	0	1	0	7	1362					T	56629464	C	T	56629464	3	4	88	1	0	0	0	0	1	0	0	0	14671	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2181330	56629464	77222431	130	33290											
ARHGAP9	64333	broad.mit.edu	37	chr12	57873000	57873000	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagcttctaggcgtcttgCcaaccaccagtcggagttgg	14	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:57873000C>T	ENST00000356411.2	-	2	328	c.190G>A	c.(190-192)Gca>Aca	p.A64T	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A143T|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A64T|ARHGAP9_ENST00000430041.2_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A64T|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.A135T			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	64	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			AGGCGTCTTGCCAACCACCAG	0.537																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(403-405)Gca>Aca		Rho GTPase activating protein 9							145	122	130					12																	57873000		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57873000C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.190G>A	12.37:g.57873000C>T	ENSP00000348782:p.Ala64Thr					ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A64T|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A143T|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A64T|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A64T	p.A135T			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		5	595	-			64					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.403G>A		.	.	.	.	.	.	.	.	.	.	C	25.0	4.587742	0.86851	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.97	4.97	0.65823	Src homology-3 domain (4);	0.079838	0.49916	D	0.000134	T	0.55210	0.1906	M	0.64997	1.995	0.33210	D	0.553344	D;D;P;D;D	0.65815	0.986;0.995;0.77;0.982;0.986	P;D;P;P;P	0.67231	0.894;0.95;0.478;0.78;0.86	T	0.67256	-0.5716	10	0.62326	D	0.03	.	14.0957	0.65019	0.0:1.0:0.0:0.0	.	64;143;64;64;64	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	T	64;64;64;135;113	ENSP00000377380:A64T;ENSP00000348782:A64T;ENSP00000394307:A64T;ENSP00000377386:A135T	ENSP00000344852:A113T	A	-	1	0	ARHGAP9	56159267	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.695000	0.61767	2.460000	0.83146	0.655000	0.94253	GCA		0.537	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		6	676	0	0	0	1	0	6	676					T	57873000	C	T	57873000	3	4	88	1	0	0	0	0	1	0	0	0	889	739	26	2	2073	2	ARHGAP9	12	57873000	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1243536	57873000	75978895	131	33291											
PPFIA2	8499	broad.mit.edu	37	chr12	81839441	81839441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcttgccgttttaccaccGtcattcttagtgatctttca	8	11	4	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:81839441G>A	ENST00000549396.1	-	6	624	c.464C>T	c.(463-465)aCg>aTg	p.T155M	RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550584.2_Missense_Mutation_p.T155M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T137M|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T2M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T81M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T137M|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T81M	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	155	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						TTTTACCACCGTCATTCTTAG	0.423																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(463-465)aCg>aTg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							112	104	107					12																	81839441		1900	4123	6023	SO:0001583	missense	8499							g.chr12:81839441G>A	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.464C>T	12.37:g.81839441G>A	ENSP00000450337:p.Thr155Met					PPFIA2_ENST00000333447.7_Missense_Mutation_p.T137M|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T81M|PPFIA2_ENST00000549396.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T2M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T155M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T155M|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T137M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T81M|PPFIA2_ENST00000545296.2_5'UTR	p.T155M	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			5	759	-			81					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.464C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147230	0.94603	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000551442	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	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.63346	-0.6658	10	0.87932	D	0	-13.5925	20.115	0.97926	0.0:0.0:1.0:0.0	.	55;155	B7Z4H8;O75334	.;LIPA2_HUMAN	M	155;137;81;166;137;155;81;155;137	ENSP00000450337:T155M;ENSP00000450298:T137M;ENSP00000385093:T81M;ENSP00000327416:T137M;ENSP00000449338:T155M;ENSP00000388373:T81M;ENSP00000447868:T155M;ENSP00000449469:T137M	ENSP00000327416:T137M	T	-	2	0	PPFIA2	80363572	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.869000	0.99810	2.761000	0.94854	0.650000	0.86243	ACG		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			54	130	0	0	0	1	0	54	130					A	81839441	G	A	81839441	3	1	88	1	0	0	0	0	1	0	0	0	12352	1145	40	1	3417	1	PPFIA2	12	81839441	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	23966441	81839441	52012454	132	33292											
TMTC2	160335	broad.mit.edu	37	chr12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcggacagcctcctcacccGcactctcaccttcttctact	4	19	4	0	rs559369404		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:83289748G>A	ENST00000321196.3	+	3	1513	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H|TMTC2_ENST00000549919.1_Missense_Mutation_p.R263H	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	269					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						CTCCTCACCCGCACTCTCACC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16768	0.0		0.0	False		,,,				2504	0.0					ENST00000549919.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(787-789)cGc>cAc		transmembrane and tetratricopeptide repeat containing 2							138	126	130					12																	83289748		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289748G>A	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.806G>A	12.37:g.83289748G>A	ENSP00000322300:p.Arg269His					TMTC2_ENST00000321196.3_Missense_Mutation_p.R269H|TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H	p.R263H			Q8N394	TMTC2_HUMAN			4	2593	+			269					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.788G>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200994	0.79015	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61859	0.07;0.07;0.07	5.84	5.84	0.93424	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.94658	3.565	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	0.87587	0.2488	10	0.87932	D	0	-18.4524	20.139	0.98050	0.0:0.0:1.0:0.0	.	269;24;269	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	H	269;269;263;24	ENSP00000322300:R269H;ENSP00000448292:R269H;ENSP00000447609:R263H	ENSP00000322300:R269H	R	+	2	0	TMTC2	81813879	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.476000	0.97823	2.764000	0.94973	0.655000	0.94253	CGC		0.527	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		8	698	0	0	0	1	0	8	698					A	83289748	G	A	83289748	3	1	88	1	0	0	0	0	1	0	0	0	16313	1087	38	1	816	1	TMTC2	12	83289748	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1450307	83289748	50562147	133	33293											
POLR3B	55703	broad.mit.edu	37	chr12	106821038	106821038	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaaatgaaaaagattgccGaccaggtgattcctaagcaa	9	8	0	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:106821038G>A	ENST00000228347.4	+	13	1387	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	POLR3B_ENST00000539066.1_Missense_Mutation_p.D331N|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	389					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						AAAGATTGCCGACCAGGTGAT	0.353																																						ENST00000228347.4																			0				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						c.(1165-1167)Gac>Aac		polymerase (RNA) III (DNA directed) polypeptide B							78	75	76					12																	106821038		2203	4300	6503	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106821038G>A	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.1165G>A	12.37:g.106821038G>A	ENSP00000228347:p.Asp389Asn					POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.D331N	p.D389N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1387	+			389					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1165G>A	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717076	0.89205	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.76448	0.03;0.03;-1.02	5.75	5.75	0.90469	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.81754	0.4889	M	0.72894	2.215	0.80722	D	1	P	0.35821	0.523	B	0.40940	0.344	T	0.81274	-0.1007	10	0.54805	T	0.06	-28.5091	20.3046	0.98621	0.0:0.0:1.0:0.0	.	389	Q9NW08	RPC2_HUMAN	N	389;389;331;147;52	ENSP00000228347:D389N;ENSP00000445721:D331N;ENSP00000448398:D147N	ENSP00000228347:D389N	D	+	1	0	POLR3B	105345168	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	9.304000	0.96190	2.878000	0.98634	0.650000	0.86243	GAC		0.353	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		4	297	0	0	0	1	0	4	297					A	106821038	G	A	106821038	3	1	88	1	0	0	0	0	1	0	0	0	12271	1058	37	1	1215	1	POLR3B	12	106821038	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	23531290	106821038	27030857	134	33294											
ALDH2	217	broad.mit.edu	37	chr12	112221026	112221026	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggctcaccttggcgccGcatggacgcatcacacaggg	14	14	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:112221026G>A	ENST00000261733.2	+	3	345	c.284G>A	c.(283-285)cGc>cAc	p.R95H	RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T|ALDH2_ENST00000416293.3_Intron	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	95					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGCGCCGCATGGACGCA	0.637			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(283-285)cGc>cAc		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						67	78	74					12																	112221026		2203	4299	6502	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112221026G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.284G>A	12.37:g.112221026G>A	ENSP00000261733:p.Arg95His					RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T|ALDH2_ENST00000416293.3_Intron	p.R95H	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			3	345	+			95					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.284G>A	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	g	25.1	4.603686	0.87157	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000261733;ENST00000553044	T	0.76578	-1.03	5.57	3.41	0.39046	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101452	0.64402	D	0.000004	T	0.68851	0.3046	L	0.57536	1.79	0.80722	D	1	P;B	0.46912	0.886;0.014	B;B	0.32533	0.147;0.015	T	0.73827	-0.3860	10	0.54805	T	0.06	.	13.4074	0.60922	0.1482:0.0:0.8518:0.0	.	95;95	F8VXI5;P05091	.;ALDH2_HUMAN	H	76;95;95	ENSP00000261733:R95H	ENSP00000261733:R95H	R	+	2	0	ALDH2;RP11-162P23.2	110705409	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.595000	0.82710	1.352000	0.45808	0.651000	0.88453	CGC		0.637	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		6	803	0	0	0	1	0	6	803					A	112221026	G	A	112221026	3	1	88	1	0	0	0	0	1	0	0	0	496	1087	38	1	294	1	ALDH2	12	112221026	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5399988	112221026	21630869	135	33295											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		8	964	0	0	0	1	0	8	964					A	123780522	G	A	123780522	3	1	88	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	11559496	123780522	10071373	136	33296											
GOLGA3	2802	broad.mit.edu	37	chr12	133353221	133353221	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcacacacaggtaccTgcagcagctgctgtagccct	10	16	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr12:133353221T>C	ENST00000450791.2	-	20	4160	c.3977A>G	c.(3976-3978)cAg>cGg	p.Q1326R	GOLGA3_ENST00000456883.2_Splice_Site_p.Q1326R|GOLGA3_ENST00000204726.3_Splice_Site_p.Q1326R			Q08378	GOGA3_HUMAN	golgin A3	1326	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CACAGGTACCTGCAGCAGCTG	0.607																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e21+1		golgin A3							72	66	68					12																	133353221		2203	4300	6503	SO:0001630	splice_region_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353221T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3978+1A>G	12.37:g.133353221T>C						GOLGA3_ENST00000450791.2_Splice_Site_p.Q1326_splice|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1326_splice	p.Q1326_splice	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4535	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1326			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Splice_Site	SNP	ENST00000450791.2	37	c.3978_splice	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.726933	0.69074	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.78707	-1.2;-1.2;1.61	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.81914	0.986;0.995	D	0.87625	0.2512	10	0.62326	D	0.03	.	15.3743	0.74593	0.0:0.0:0.0:1.0	.	1326;1326	Q08378-2;Q08378	.;GOGA3_HUMAN	R	1326	ENSP00000204726:Q1326R;ENSP00000410378:Q1326R;ENSP00000409303:Q1326R	ENSP00000204726:Q1326R	Q	-	2	0	GOLGA3	131863294	1.000000	0.71417	0.998000	0.56505	0.199000	0.23934	7.566000	0.82347	2.225000	0.72522	0.528000	0.53228	CAG		0.607	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895	Missense_Mutation	6	490	0	0	0	1	0	6	490					C	133353221	T	C	133353221	5	2	88	1	0	0	0	0	0	0	1	0	6583	1594	55	4	535	4	GOLGA3	12	133353221	Splice_Site	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	9572699	133353221	498674	137	33297											
TUBA3C	7278	broad.mit.edu	37	chr13	19751421	19751421	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaggccgtgatggaggacacGatctgcccaatcaggcgatt	14	10	2	1	rs142245280		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:19751421G>A	ENST00000400113.3	-	4	806	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	234					'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)		TGGAGGACACGATCTGCCCAA	0.567																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(700-702)atC>atT		tubulin, alpha 3c		G		3,4403	6.2+/-15.9	0,3,2200	179	151	161		702	0.3	1	13	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	TUBA3C	NM_006001.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		234/451	19751421	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751421G>A	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.702C>T	13.37:g.19751421G>A							p.I234I	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	806	-		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)	234					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.702C>T	CCDS9284.1																																																																																				0.567	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		247	557	0	0	0	1	0	247	557					A	19751421	G	A	19751421	2	1	88	1	0	0	0	0	0	0	0	1	16800	1048	37	1		1	TUBA3C	13	19751421	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		19751421	95418457	138	33298											
MTUS2	23281	broad.mit.edu	37	chr13	30002979	30002979	+	De_novo_Start_OutOfFrame	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgccagccagcctgccggGatgggccattgctgctgcaa	13	14	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:30002979G>A	ENST00000542829.1	+	0	134				MTUS2_ENST00000431530.3_Intron|MTUS2_ENST00000380808.2_De_novo_Start_InFrame			Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2							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						AGCCTGCCGGGATGGGCCATT	0.607																																						ENST00000542829.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20								microtubule associated tumor suppressor candidate 2							95	105	102					13																	30002979		2133	4248	6381			23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:30002979G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000542829.1:c.-204G>A	13.37:g.30002979G>A						MTUS2_ENST00000431530.3_Intron|MTUS2_ENST00000380808.2_De_novo_Start_InFrame				Q5JR59	MTUS2_HUMAN			0	134	+								A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Translation_Start_Site	SNP	ENST00000542829.1	37																																																																																						0.607	MTUS2-201	KNOWN	basic	protein_coding	protein_coding		XM_166270		66	228	0	0	0	1	0	66	228					A	30002979	G	A	30002979	1	1	88	1	0	1	0	0	0	0	0	0	10007	1189	41	2		2	MTUS2	13	30002979	De_novo_Start_OutOfFrame	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	10251558	30002979	85166899	139	33299											
BRCA2	675	broad.mit.edu	37	chr13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-													gatgaaacatcttataaaggAaaaaaaataccgaaagacca					rs80359307|rs80359309		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:32907421delA	ENST00000380152.3	+	10	2039	c.1806delA	c.(1804-1806)ggafs	p.G602fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.G602fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					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)		CTTATAAAGGAAAAAAAATAC	0.303			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1804-1806)ggfs	Homologous recombination	breast cancer 2, early onset				53,4211		9,35,2088	30	32	31	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.6	0.2	13	dbSNP_132	31	97,8137		17,63,4037	no	frameshift	BRCA2	NM_000059.3		26,98,6125	A1A1,A1R,RR		1.178,1.243,1.2002			32907421	150,12348	2203	4291	6494	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907421delA	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.1806delA	13.37:g.32907421delA	ENSP00000369497:p.Gly602fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2033	+		Lung SC(185;0.0262)	602					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1806delA	CCDS9344.1																																																																																				0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		7	307						7	307	---	---	---	---	-	32907421	A	-	32907421	7	5	88	1	0	1	0	1	0	0	0	0	1503	233	9	0	1840	0	BRCA2	13	32907421	Frame_Shift_Del	DEL	A	TCGA-IB-A6UF-01A-23D-A33T-08	2904442	32907421	82262457	140	33300											
FAM48A	55578	broad.mit.edu	37	chr13	37586344	37586344	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaccagctgcctgtgactGcataaaacttcctactccag	6	15	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr13:37586344G>A	ENST00000350612.6	-	24	2303	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	SUPT20H_ENST00000360252.4_Nonsense_Mutation_p.Q696*|SUPT20H_ENST00000464744.1_Nonsense_Mutation_p.Q696*|SUPT20H_ENST00000356185.3_Nonsense_Mutation_p.Q696*|SUPT20H_ENST00000475892.1_Nonsense_Mutation_p.Q774*	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	695	Gln-rich.				autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GCCTGTGACTGCATAAAACTT	0.373																																						ENST00000360252.4																			0											c.(2086-2088)Cag>Tag		suppressor of Ty 20 homolog (S. cerevisiae)							181	183	182					13																	37586344		2203	4300	6503	SO:0001587	stop_gained	55578							g.chr13:37586344G>A	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.2083C>T	13.37:g.37586344G>A	ENSP00000218894:p.Gln695*					SUPT20H_ENST00000464744.1_Nonsense_Mutation_p.Q696*|SUPT20H_ENST00000350612.6_Nonsense_Mutation_p.Q695*|SUPT20H_ENST00000475892.1_Nonsense_Mutation_p.Q774*|SUPT20H_ENST00000356185.3_Nonsense_Mutation_p.Q696*	p.Q696*	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					24	2333	-								E7ER46|Q71RF3|Q9Y6A6	Nonsense_Mutation	SNP	ENST00000350612.6	37	c.2086C>T	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	41	8.681527	0.98912	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	.	.	.	5.78	5.78	0.91487	.	0.418879	0.27354	N	0.019752	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7218	14.2012	0.65705	0.0712:0.0:0.9288:0.0	.	.	.	.	X	696;774;695;696;695;696	.	ENSP00000218894:Q695X	Q	-	1	0	FAM48A	36484344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.248000	0.65421	2.744000	0.94065	0.563000	0.77884	CAG		0.373	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		6	919	0	0	0	1	0	6	919					A	37586344	G	A	37586344	4	1	88	1	0	0	0	0	0	1	0	0	5597	1328	46	2	268	2	FAM48A	13	37586344	Nonsense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	4678923	37586344	77583534	141	33301											
TEP1	7011	broad.mit.edu	37	chr14	20852647	20852647	+	Frame_Shift_Del	DEL	C	C	-													agggccggccagctgccacaCccccccactcacaggggtat							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:20852647delC	ENST00000262715.5	-	23	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					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)	p.V1082fs*47(1)		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)		AGCTGCCACACCCCCCCACTC	0.587																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)gtfs		telomerase-associated protein 1							108	128	121					14																	20852647		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852647delC		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.3242delG	14.37:g.20852647delC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.3242delG	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		11	1408						11	1408	---	---	---	---	-	20852647	C	-	20852647	7	5	88	1	0	1	0	1	0	0	0	0	15811	507	18	0	4773	0	TEP1	14	20852647	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08		20852647	86496893	142	33302											
C14orf21	161424	broad.mit.edu	37	chr14	24771231	24771231	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctttacaggttttacaccGcaaacttccccagttttgcg	8	12	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:24771231G>A	ENST00000267425.3	+	4	962	c.869G>A	c.(868-870)cGc>cAc	p.R290H	NOP9_ENST00000396802.3_Missense_Mutation_p.R290H|DHRS1_ENST00000396813.1_5'Flank|DHRS1_ENST00000288111.7_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	290							poly(A) RNA binding (GO:0044822)										GTTTTACACCGCAAACTTCCC	0.488																																						ENST00000267425.3																			0											c.(868-870)cGc>cAc		NOP9 nucleolar protein							153	156	155					14																	24771231		2203	4300	6503	SO:0001583	missense	161424							g.chr14:24771231G>A		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.869G>A	14.37:g.24771231G>A	ENSP00000267425:p.Arg290His					NOP9_ENST00000396802.3_Missense_Mutation_p.R290H	p.R290H	NM_174913.1	NP_777573.1					4	962	+								A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	ENST00000267425.3	37	c.869G>A	CCDS9624.1	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431357	0.12045	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.32515	1.48;1.45	5.21	2.37	0.29283	Armadillo-type fold (1);	0.221477	0.43919	N	0.000519	T	0.28962	0.0719	L	0.59436	1.845	0.33369	D	0.573359	B	0.18310	0.027	B	0.14578	0.011	T	0.26573	-1.0099	10	0.39692	T	0.17	-12.7136	11.6348	0.51198	0.2276:0.0:0.7724:0.0	.	290	Q86U38	CN021_HUMAN	H	290	ENSP00000267425:R290H;ENSP00000380020:R290H	ENSP00000267425:R290H	R	+	2	0	C14orf21	23841071	0.193000	0.23313	0.935000	0.37517	0.006000	0.05464	1.015000	0.29963	0.084000	0.17077	-0.797000	0.03246	CGC		0.488	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2			8	854	0	0	0	1	0	8	854					A	24771231	G	A	24771231	3	1	88	1	0	0	0	0	1	0	0	0	1774	1087	38	1	883	1	C14orf21	14	24771231	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3918584	24771231	82578309	143	33303											
STXBP6	29091	broad.mit.edu	37	chr14	25325303	25325303	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaacaaatcaaactctgccGaatcctggaaaagacaatga	6	10	2	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:25325303G>A	ENST00000323944.5	-	4	741	c.290C>T	c.(289-291)tCg>tTg	p.S97L	STXBP6_ENST00000396700.1_Missense_Mutation_p.S97L|STXBP6_ENST00000358326.2_Missense_Mutation_p.S97L|STXBP6_ENST00000546511.1_Missense_Mutation_p.S97L|STXBP6_ENST00000550887.1_Missense_Mutation_p.S97L|STXBP6_ENST00000548724.1_Missense_Mutation_p.S97L|STXBP6_ENST00000419632.2_Missense_Mutation_p.S97L			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	97					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)		AAACTCTGCCGAATCCTGGAA	0.388																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(289-291)tCg>tTg		syntaxin binding protein 6 (amisyn)							68	61	63					14																	25325303		2203	4300	6503	SO:0001583	missense	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25325303G>A	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.290C>T	14.37:g.25325303G>A	ENSP00000324302:p.Ser97Leu					STXBP6_ENST00000396700.1_Missense_Mutation_p.S97L|STXBP6_ENST00000550887.1_Missense_Mutation_p.S97L|STXBP6_ENST00000546511.1_Missense_Mutation_p.S97L|STXBP6_ENST00000419632.2_Missense_Mutation_p.S97L|STXBP6_ENST00000358326.2_Missense_Mutation_p.S97L|STXBP6_ENST00000548724.1_Missense_Mutation_p.S97L	p.S97L			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	4	741	-			97					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	c.290C>T	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781990	0.49891	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.15	5.15	0.70609	.	0.189920	0.47455	D	0.000223	T	0.33147	0.0853	N	0.14661	0.345	0.50171	D	0.999858	P	0.34587	0.458	B	0.14578	0.011	T	0.28299	-1.0048	9	0.48119	T	0.1	0.0641	16.1225	0.81369	0.0:0.0:1.0:0.0	.	97	Q8NFX7	STXB6_HUMAN	L	97	.	ENSP00000324302:S97L	S	-	2	0	STXBP6	24395143	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.030000	0.64128	2.405000	0.81733	0.563000	0.77884	TCG		0.388	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			6	234	0	0	0	1	0	6	234					A	25325303	G	A	25325303	3	1	88	1	0	0	0	0	1	0	0	0	15410	1059	37	1	354	1	STXBP6	14	25325303	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	554072	25325303	82024237	144	33304											
NPAS3	64067	broad.mit.edu	37	chr14	34269655	34269655	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggccattcccgactcGgtcctcaccccgcccggcgc	10	21	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:34269655G>A	ENST00000356141.4	+	12	2142	c.2142G>A	c.(2140-2142)tcG>tcA	p.S714S	NPAS3_ENST00000551492.1_Silent_p.S719S|NPAS3_ENST00000346562.2_Silent_p.S682S|NPAS3_ENST00000548645.1_Silent_p.S684S|NPAS3_ENST00000357798.5_Silent_p.S701S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	714	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TTCCCGACTCGGTCCTCAccc	0.781																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(2044-2046)tcG>tcA		neuronal PAS domain protein 3							3	5	4					14																	34269655		1516	3107	4623	SO:0001819	synonymous_variant	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34269655G>A	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2142G>A	14.37:g.34269655G>A						NPAS3_ENST00000357798.5_Silent_p.S701S|NPAS3_ENST00000356141.4_Silent_p.S714S|NPAS3_ENST00000551492.1_Silent_p.S719S|NPAS3_ENST00000548645.1_Silent_p.S684S	p.S682S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	11	2120	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		714					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	ENST00000356141.4	37	c.2046G>A	CCDS53891.1																																																																																				0.781	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			5	64	0	0	0	1	0	5	64					A	34269655	G	A	34269655	2	1	88	1	0	0	0	0	0	0	0	1	10606	1103	39	1		1	NPAS3	14	34269655	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8944352	34269655	73079885	145	33305											
PPP2R5C	5527	broad.mit.edu	37	chr14	102391518	102391518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgtcctcttgcacgccGcaagtccgagctgcctcagg	12	16	2	0	rs147942579	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr14:102391518G>A	ENST00000334743.5	+	14	1532	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.R526H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	495					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						CTTGCACGCCGCAAGTCCGAG	0.572																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1576-1578)cGc>cAc		protein phosphatase 2, regulatory subunit B', gamma							123	133	130					14																	102391518		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102391518G>A	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.1484G>A	14.37:g.102391518G>A	ENSP00000333905:p.Arg495His					PPP2R5C_ENST00000334743.5_Missense_Mutation_p.R495H|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H	p.R526H	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			16	1673	+			495					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1577G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306513	0.95629	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.57436	0.41;0.5;0.41;0.46;0.4	6.17	5.28	0.74379	.	0.045716	0.85682	D	0.000000	T	0.75361	0.3839	M	0.85630	2.765	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.987;0.987;0.978	T	0.79727	-0.1682	10	0.59425	D	0.04	-5.113	15.7894	0.78343	0.065:0.0:0.935:0.0	.	526;456;495;511	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	H	526;511;524;456;495	ENSP00000412324:R526H;ENSP00000329009:R511H;ENSP00000450931:R524H;ENSP00000262239:R456H;ENSP00000333905:R495H	ENSP00000329009:R511H	R	+	2	0	PPP2R5C	101461271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.891000	0.92485	1.626000	0.50381	0.655000	0.94253	CGC		0.572	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		7	926	0	0	0	1	0	7	926					A	102391518	G	A	102391518	3	1	88	1	0	0	0	0	1	0	0	0	12441	1087	38	1	1931	1	PPP2R5C	14	102391518	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	68121863	102391518	4958022	146	33306											
OCA2	4948	broad.mit.edu	37	chr15	28202828	28202828	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgtctcctcgcggctggCcgggctgatgcgctgagcag	16	13	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:28202828C>T	ENST00000354638.3	-	16	1845	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	OCA2_ENST00000382996.2_Missense_Mutation_p.A564T|OCA2_ENST00000353809.5_Missense_Mutation_p.A540T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	564					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)		TCGCGGCTGGCCGGGCTGATG	0.637									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1690-1692)Gcc>Acc		oculocutaneous albinism II							25	27	26					15																	28202828		2196	4289	6485	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202828C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1690G>A	15.37:g.28202828C>T	ENSP00000346659:p.Ala564Thr					OCA2_ENST00000382996.2_Missense_Mutation_p.A564T|OCA2_ENST00000353809.5_Missense_Mutation_p.A540T	p.A564T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1845	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	564					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1690G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800578	0.70567	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90955	-2.76;-2.57;-2.74	5.8	5.8	0.92144	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	L	0.29908	0.895	0.53005	D	0.999962	P;P	0.50819	0.929;0.939	P;P	0.53549	0.729;0.673	D	0.87323	0.2319	10	0.23302	T	0.38	-14.3158	17.5483	0.87869	0.0:1.0:0.0:0.0	.	540;564	Q04671-2;Q04671	.;P_HUMAN	T	564;540;564	ENSP00000346659:A564T;ENSP00000261276:A540T;ENSP00000372457:A564T	ENSP00000261276:A540T	A	-	1	0	OCA2	25876423	1.000000	0.71417	0.994000	0.49952	0.464000	0.32679	6.883000	0.75595	2.746000	0.94184	0.591000	0.81541	GCC		0.637	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		4	238	0	0	0	1	0	4	238					T	28202828	C	T	28202828	3	4	88	1	0	0	0	0	1	0	0	0	10857	739	26	2	862	2	OCA2	15	28202828	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		28202828	74328564	147	33307											
IGDCC4	57722	broad.mit.edu	37	chr15	65681260	65681260	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggggggcaccagtgcagccGaaccgtggacggtgtcaggg	20	10	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:65681260G>A	ENST00000352385.2	-	15	2802	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	865	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						CAGTGCAGCCGAACCGTGGAC	0.652																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2593-2595)Cgg>Tgg		immunoglobulin superfamily, DCC subclass, member 4							38	30	33					15																	65681260		2200	4298	6498	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65681260G>A		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.2593C>T	15.37:g.65681260G>A	ENSP00000319623:p.Arg865Trp						p.R865W	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			15	2802	-			865			Fibronectin type-III 5.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2593C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703326	0.68501	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58210	0.35	4.97	4.04	0.47022	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.356482	0.27397	N	0.019557	T	0.73393	0.3581	M	0.83223	2.63	0.32760	N	0.505288	D	0.89917	1.0	D	0.72338	0.977	T	0.82617	-0.0369	10	0.66056	D	0.02	-15.3636	14.6226	0.68597	0.0:0.0:0.8533:0.1467	.	865	Q8TDY8	IGDC4_HUMAN	W	865;594	ENSP00000319623:R865W	ENSP00000319623:R865W	R	-	1	2	IGDCC4	63468313	1.000000	0.71417	0.796000	0.32109	0.754000	0.42855	4.717000	0.61923	1.074000	0.40909	0.561000	0.74099	CGG		0.652	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		70	92	0	0	0	1	0	70	92					A	65681260	G	A	65681260	3	1	88	1	0	0	0	0	1	0	0	0	7599	1057	37	1	1183	1	IGDCC4	15	65681260	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	37478432	65681260	36850132	148	33308											
DIS3L	115752	broad.mit.edu	37	chr15	66607419	66607419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgggatgaaggctcgaaaccGctcaattcatggagatgtgg	14	8	2	2	rs200076422		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:66607419G>A	ENST00000319212.4	+	7	910	c.860G>A	c.(859-861)cGc>cAc	p.R287H	DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.R204H	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	287					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						GCTCGAAACCGCTCAATTCAT	0.478																																						ENST00000319194.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(610-612)cGc>cAc		DIS3 mitotic control homolog (S. cerevisiae)-like							144	125	131					15																	66607419		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66607419G>A		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.860G>A	15.37:g.66607419G>A	ENSP00000321711:p.Arg287His					DIS3L_ENST00000441424.2_Missense_Mutation_p.R153H|RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Missense_Mutation_p.R287H	p.R204H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN			7	872	+			287					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.611G>A	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	G	36	5.664037	0.96745	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212	T;T;T	0.36699	1.24;1.24;1.24	5.34	5.34	0.76211	.	0.156269	0.56097	D	0.000038	T	0.72566	0.3476	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.81061	-0.1103	10	0.66056	D	0.02	-15.751	18.3807	0.90449	0.0:0.0:1.0:0.0	.	287;287	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	H	204;153;287	ENSP00000321583:R204H;ENSP00000388980:R153H;ENSP00000321711:R287H	ENSP00000321583:R204H	R	+	2	0	DIS3L	64394473	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	9.386000	0.97228	2.655000	0.90218	0.561000	0.74099	CGC		0.478	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2	NM_133375		6	340	0	0	0	1	0	6	340					A	66607419	G	A	66607419	3	1	88	1	0	0	0	0	1	0	0	0	4552	1087	38	1	886	1	DIS3L	15	66607419	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	926159	66607419	35923973	149	33309											
KIAA1024	23251	broad.mit.edu	37	chr15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaacagtgaaagcctgCgggtcaaggccttaaaaaaa	12	8	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral component of membrane (GO:0016021)		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542																																						ENST00000305428.3																			1	Substitution - Missense(1)	p.R695W(1)	kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2083-2085)Cgg>Tgg		KIAA1024							140	137	138					15																	79750572		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750572C>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2083C>T	15.37:g.79750572C>T	ENSP00000307461:p.Arg695Trp						p.R695W	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	2158	+			695					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2083C>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528591	0.44969	.	.	ENSG00000169330	ENST00000305428	T	0.36878	1.23	5.68	4.73	0.59995	.	0.249259	0.41938	D	0.000791	T	0.42337	0.1198	M	0.67953	2.075	0.47905	D	0.999542	D	0.65815	0.995	P	0.45474	0.482	T	0.40794	-0.9544	9	.	.	.	.	16.028	0.80555	0.135:0.865:0.0:0.0	.	695	Q9UPX6	K1024_HUMAN	W	695	ENSP00000307461:R695W	.	R	+	1	2	KIAA1024	77537627	1.000000	0.71417	0.077000	0.20336	0.406000	0.30931	1.426000	0.34870	2.681000	0.91329	0.655000	0.94253	CGG		0.542	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		6	840	0	0	0	1	0	6	840					T	79750572	C	T	79750572	3	4	88	1	0	0	0	0	1	0	0	0	8235	759	27	1	2085	1	KIAA1024	15	79750572	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	13143153	79750572	22780820	150	33310											
WFIKKN1	117166	broad.mit.edu	37	chr16	683104	683104	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagagaacctgatcatgCgccctgatcagatgtatggc	12	10	2	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:683104C>T	ENST00000319070.2	+	2	1016	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	232	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)				CCTGATCATGCGCCCTGATCA	0.662																																						ENST00000319070.2																			0				breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4						c.(694-696)Cgc>Tgc		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1							32	34	34					16																	683104		2193	4281	6474	SO:0001583	missense	117166					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr16:683104C>T	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.694C>T	16.37:g.683104C>T	ENSP00000324763:p.Arg232Cys						p.R232C	NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN			2	1016	+		Hepatocellular(780;0.00335)	232			Ig-like C2-type.		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	ENST00000319070.2	37	c.694C>T	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.763443	0.49574	.	.	ENSG00000127578	ENST00000319070	T	0.70631	-0.5	4.71	3.71	0.42584	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.057277	0.64402	D	0.000003	T	0.81163	0.4765	M	0.72624	2.21	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.82752	-0.0302	10	0.72032	D	0.01	.	11.0862	0.48089	0.3279:0.6721:0.0:0.0	.	232	Q96NZ8	WFKN1_HUMAN	C	232	ENSP00000324763:R232C	ENSP00000324763:R232C	R	+	1	0	WFIKKN1	623105	0.996000	0.38824	0.990000	0.47175	0.767000	0.43475	0.491000	0.22419	2.174000	0.68829	0.486000	0.48141	CGC		0.662	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2	NM_053284		4	284	0	0	0	1	0	4	284					T	683104	C	T	683104	3	4	88	1	0	0	0	0	1	0	0	0	17412	768	27	1	700	1	WFIKKN1	16	683104	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		683104	89671649	151	33311											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1812981	1812981	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgatctcggcaggcagCcggcccctggaattcttccc	11	17	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:1812981C>T	ENST00000250894.4	+	16	2026	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	MAPK8IP3_ENST00000356010.5_Silent_p.S617S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	623					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGGCAGGCAGCCGGCCCCTGG	0.657																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(1867-1869)agC>agT		mitogen-activated protein kinase 8 interacting protein 3							49	58	55					16																	1812981		1954	4158	6112	SO:0001819	synonymous_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1812981C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1869C>T	16.37:g.1812981C>T						MAPK8IP3_ENST00000356010.5_Silent_p.S617S	p.S623S	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			16	2026	+			623					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	c.1869C>T	CCDS10442.2																																																																																				0.657	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		5	571	0	0	0	1	0	5	571					T	1812981	C	T	1812981	2	4	88	1	0	0	0	0	0	0	0	1	9327	738	26	2		2	MAPK8IP3	16	1812981	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1129877	1812981	88541772	152	33312											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		348	816	0	0	0	1	0	348	816					T	3293588	C	T	3293588	2	4	88	1	0	0	0	0	0	0	0	1	9500	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1480607	3293588	87061165	153	33313											
SMG1	23049	broad.mit.edu	37	chr16	18896965	18896965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacattttcaagaatAgactgcaggctggtcattac	8	9	2	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000389467.3_Silent_p.S282S|SMG1_ENST00000565224.1_Silent_p.S256S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	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						TTTCAAGAATAGACTGCAGGC	0.333																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(844-846)tcT>tcA		SMG1 phosphatidylinositol 3-kinase-related kinase							94	99	98					16																	18896965		985	2082	3067	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18896965A>T	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.846T>A	16.37:g.18896965A>T						SMG1_ENST00000389467.3_Silent_p.S282S|SMG1_ENST00000565224.1_Silent_p.S256S	p.S282S			Q96Q15	SMG1_HUMAN			7	1258	-			282			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.846T>A	CCDS45430.1																																																																																				0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	363	0	0	0	1	0	6	363					T	18896965	A	T	18896965	2	4	88	1	0	0	0	0	0	0	0	1	14845	407	15	5		5	SMG1	16	18896965	Silent	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	15603377	18896965	71457788	154	33314											
KIAA0556	23247	broad.mit.edu	37	chr16	27659970	27659970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctggcccacggctccacatcGaacctcctgtggactattct	8	16	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:27659970G>A	ENST00000261588.4	+	6	473	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	152						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCTCCACATCGAACCTCCTGT	0.493																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(454-456)Gaa>Aaa		KIAA0556							101	83	89					16																	27659970		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27659970G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.454G>A	16.37:g.27659970G>A	ENSP00000261588:p.Glu152Lys					KIAA0556_ENST00000567894.1_3'UTR	p.E152K	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			6	473	+			152					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.454G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620581	0.14193	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.50548	0.74	4.82	1.53	0.23141	.	0.621024	0.16295	N	0.220719	T	0.39989	0.1099	L	0.46157	1.445	0.28141	N	0.929802	D;B	0.55605	0.972;0.086	P;B	0.45099	0.469;0.01	T	0.35025	-0.9805	10	0.10111	T	0.7	-3.534	12.6071	0.56529	0.0:0.4961:0.5039:0.0	.	17;152	Q8N803;O60303	.;K0556_HUMAN	K	152;16	ENSP00000261588:E152K	ENSP00000261588:E152K	E	+	1	0	KIAA0556	27567471	0.034000	0.19679	0.958000	0.39756	0.186000	0.23388	0.800000	0.27042	0.134000	0.18681	-0.181000	0.13052	GAA		0.493	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		86	240	0	0	0	1	0	86	240					A	27659970	G	A	27659970	3	1	88	1	0	0	0	0	1	0	0	0	8213	1059	37	1	476	1	KIAA0556	16	27659970	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	8763005	27659970	62694783	155	33315											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		7	3712						7	3712	---	---	---	---	-	28734581	GAG	-	28734579	7	5	88	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-IB-A6UF-01A-23D-A33T-08	1074609	28734579	61620174	156	33316											
IRX3	79191	broad.mit.edu	37	chr16	54318808	54318809	+	Frame_Shift_Ins	INS	-	-	G													gcgcaggggtccaggctcacINSggggggcgacggcagagacg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:54318808_54318809insG	ENST00000329734.3	-	2	1696_1697	c.984_985insC	c.(982-987)cccgtgfs	p.V329fs		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	329	Pro-rich.				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TCCAGGCTCACGGGGGGCGACG	0.703																																					GBM(143;1830 1866 4487 4646 37383)	ENST00000329734.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						c.(982-987)cctgagfs		iroquois homeobox 3																																				SO:0001589	frameshift_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54318808_54318809insG	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"Homeoboxes / TALE class"	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.985dupC	16.37:g.54318814_54318814dupG	ENSP00000331608:p.Val329fs						p.E329fs	NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN			2	1696_1697	-			329			Pro-rich.		Q7Z4A4|Q7Z4A5|Q8IVC6	Frame_Shift_Ins	INS	ENST00000329734.3	37	c.984_985insC	CCDS10750.1																																																																																				0.703	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			16	54						16	54	---	---	---	---	G	54318809	-	G	54318808	7	5	88	1	0	1	1	0	0	0	0	0	7875	536	19	0	532	0	IRX3	16	54318808	Frame_Shift_Ins	INS	-	TCGA-IB-A6UF-01A-23D-A33T-08	25584229	54318808	36035945	157	33317											
DPEP2	64174	broad.mit.edu	37	chr16	68026461	68026461	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccaggctggtctggccGtagctgaaattgcgcaggtt	14	10	1	1	rs535237474		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:68026461G>A	ENST00000572888.1	-	2	992	c.342C>T	c.(340-342)taC>taT	p.Y114Y	DPEP2_ENST00000393847.1_Silent_p.Y114Y|DPEP2_ENST00000412757.2_Silent_p.Y114Y			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	114					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGGTCTGGCCGTAGCTGAAAT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19692	0.0		0.0	False		,,,				2504	0.001					ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(340-342)taC>taT		dipeptidase 2							101	92	95					16																	68026461		2198	4300	6498	SO:0001819	synonymous_variant	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68026461G>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.342C>T	16.37:g.68026461G>A						DPEP2_ENST00000572888.1_Silent_p.Y114Y|DPEP2_ENST00000393847.1_Silent_p.Y114Y	p.Y114Y			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	4	1007	-		Ovarian(137;0.192)	114					B2RCF8|Q6UX92|Q8TC95	Silent	SNP	ENST00000572888.1	37	c.342C>T	CCDS10857.1																																																																																				0.602	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		5	554	0	0	0	1	0	5	554					A	68026461	G	A	68026461	2	1	88	1	0	0	0	0	0	0	0	1	4730	1140	40	1		1	DPEP2	16	68026461	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	13707653	68026461	22328292	158	33318											
SLC7A6	84138	broad.mit.edu	37	chr16	68330539	68330539	+	IGR	DEL	T	T	-													ctctatttcagctgagcgtgTttttccccatcgtgttctgc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:68330539delT	ENST00000263997.6	-	0	4189				SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs|SLC7A6_ENST00000566454.1_Frame_Shift_Del_p.F428fs	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)		GCTGAGCGTGTTTTTCCCCAT	0.522																																						ENST00000566454.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16						c.(1279-1281)ttfs		solute carrier family 7 (amino acid transporter light chain, y+L system), member 6							263	230	241					16																	68330539		2198	4300	6498	SO:0001628	intergenic_variant	9057				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity	g.chr16:68330539delT		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.68330539delT						SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs	p.F428fs	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)	11	1548	+		Ovarian(137;0.0563)	428					Q8TCZ3|Q9H8R8	Frame_Shift_Del	DEL	ENST00000263997.6	37	c.1279delT	CCDS10865.1																																																																																				0.522	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		7	1156						7	1156	---	---	---	---	-	68330539	T	-	68330539	6	5	88	0	1	1	0	1	0	0	0	0	14751	1725	60	0		0	SLC7A6	16	68330539	IGR	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	304078	68330539	22024214	159	33319											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37	39	38					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000567278.1_5'UTR|COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		12	141	0	0	0	1	0	12	141					G	84600451	T	G	84600451	4	3	88	1	0	0	0	0	0	0	0	0	3770	1732	60	4	3	4	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	16269912	84600451	5754302	160	33320											
SCARF1	8578	broad.mit.edu	37	chr17	1538293	1538293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgagttggggctctggCcgacagagccagaggcaagg	19	9	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:1538293C>T	ENST00000263071.4	-	11	2301	c.2252G>A	c.(2251-2253)gGc>gAc	p.G751D	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.G665D	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	751	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGGGCTCTGGCCGACAGAGCC	0.677																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2251-2253)gGc>gAc		scavenger receptor class F, member 1							20	22	21					17																	1538293		2201	4297	6498	SO:0001583	missense	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538293C>T	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.2252G>A	17.37:g.1538293C>T	ENSP00000263071:p.Gly751Asp					SCARF1_ENST00000348987.3_Missense_Mutation_p.G665D|SCARF1_ENST00000571272.1_3'UTR	p.G751D	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	2301	-			751			Gly-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.2252G>A	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	c	1.596	-0.527893	0.04112	.	.	ENSG00000074660	ENST00000263071;ENST00000348987	T;T	0.21191	2.02;2.69	3.49	-2.34	0.06704	.	1.891510	0.02975	N	0.144870	T	0.08447	0.0210	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.12837	0.008;0.007	T	0.15867	-1.0422	10	0.12766	T	0.61	0.5889	0.7126	0.00926	0.1686:0.3666:0.1651:0.2996	.	665;751	Q14162-2;Q14162	.;SREC_HUMAN	D	751;665	ENSP00000263071:G751D;ENSP00000323964:G665D	ENSP00000263071:G751D	G	-	2	0	SCARF1	1485043	0.000000	0.05858	0.017000	0.16124	0.027000	0.11550	-2.814000	0.00753	-0.393000	0.07739	-0.280000	0.10049	GGC		0.677	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		4	201	0	0	0	1	0	4	201					T	1538293	C	T	1538293	3	4	88	1	0	0	0	0	1	0	0	0	13933	739	26	2	244	2	SCARF1	17	1538293	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		1538293	79656917	161	33321											
ZNF594	84622	broad.mit.edu	37	chr17	5085387	5085387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctgatgtttgaggaaaGccgtgtgccacatgaagagt	13	7	1	4			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:5085387G>A	ENST00000399604.4	-	1	2305	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	ZNF594_ENST00000575779.1_Missense_Mutation_p.A722V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	722					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						TTTGAGGAAAGCCGTGTGCCA	0.458																																						ENST00000399604.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(2164-2166)gCt>gTt		zinc finger protein 594							140	148	145					17																	5085387		2157	4284	6441	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5085387G>A	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.2165C>T	17.37:g.5085387G>A	ENSP00000382513:p.Ala722Val					ZNF594_ENST00000575779.1_Missense_Mutation_p.A722V	p.A722V			Q96JF6	ZN594_HUMAN			1	2305	-			722					Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.2165C>T	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	g	1.376	-0.584769	0.03827	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.28666	1.6	1.17	-2.35	0.06684	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15003	0.0362	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21245	-1.0251	9	0.28530	T	0.3	.	3.8079	0.08785	0.0:0.276:0.5078:0.2162	.	722	Q96JF6	ZN594_HUMAN	V	722;289	ENSP00000382513:A722V	ENSP00000373874:A289V	A	-	2	0	ZNF594	5026111	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.467000	0.00461	-1.230000	0.02561	-1.706000	0.00718	GCT		0.458	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		6	605	0	0	0	1	0	6	605					A	5085387	G	A	5085387	3	1	88	1	0	0	0	0	1	0	0	0	18077	971	34	2	262	2	ZNF594	17	5085387	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3547094	5085387	76109823	162	33322											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	8	15	1	0	rs28934576		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	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_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	66	0	0	0	1	0	54	66					T	7577120	C	T	7577120	3	4	88	1	0	0	0	0	1	0	0	0	16434	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	2491733	7577120	73618090	163	33323											
USH1G	124590	broad.mit.edu	37	chr17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgccgcaggagggcgGcaaagtcctccatgtgcaga	13	13	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	405	SAM.				equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGAGGGCGGCAAAGTCCTC	0.627																																						ENST00000319642.1																		HN1/USH1G(2)	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(1213-1215)gCc>gTc		Usher syndrome 1G (autosomal recessive)							46	43	44					17																	72915717		2203	4298	6501	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915717G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1214C>T	17.37:g.72915717G>A	ENSP00000320076:p.Ala405Val						p.A405V	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1396	-	all_lung(278;0.172)|Lung NSC(278;0.207)		405			SAM.		Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.1214C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910112	0.17833	.	.	ENSG00000182040	ENST00000319642	T	0.49139	0.79	4.53	0.999	0.19862	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.770174	0.12427	N	0.469921	T	0.18800	0.0451	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16424	-1.0403	10	0.28530	T	0.3	-6.1315	3.7981	0.08747	0.2204:0.5:0.2796:0.0	.	405	Q495M9	USH1G_HUMAN	V	405	ENSP00000320076:A405V	ENSP00000320076:A405V	A	-	2	0	USH1G	70427312	0.662000	0.27439	0.015000	0.15790	0.947000	0.59692	3.769000	0.55303	0.479000	0.27511	0.555000	0.69702	GCC		0.627	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		5	294	0	0	0	1	0	5	294					A	72915717	G	A	72915717	3	1	88	1	0	0	0	0	1	0	0	0	17089	1203	42	2	179	2	USH1G	17	72915717	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	65338597	72915717	8279493	164	33324											
ZNF750	79755	broad.mit.edu	37	chr17	80788076	80788076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtgtcctgcagcttcGccttcttagctccttgctgg	11	14	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr17:80788076G>A	ENST00000269394.3	-	3	2947	c.2114C>T	c.(2113-2115)gCg>gTg	p.A705V	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A306V|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	705					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)	p.A705V(1)		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)			CTGCAGCTTCGCCTTCTTAGC	0.567																																						ENST00000269394.3																			1	Substitution - Missense(1)	p.A705V(1)	large_intestine(1)	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						c.(2113-2115)gCg>gTg		zinc finger protein 750							122	101	108					17																	80788076		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80788076G>A	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.2114C>T	17.37:g.80788076G>A	ENSP00000269394:p.Ala705Val					TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A306V|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	p.A705V	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2947	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	705					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.2114C>T	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209835	0.06140	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.11604	2.76	5.28	-0.647	0.11468	.	1.559540	0.03792	N	0.263027	T	0.06690	0.0171	L	0.27053	0.805	0.09310	N	1	B	0.24132	0.098	B	0.14578	0.011	T	0.33599	-0.9862	9	.	.	.	0.0083	1.0216	0.01519	0.3312:0.2658:0.2669:0.136	.	705	Q32MQ0	ZN750_HUMAN	V	705;298	ENSP00000269394:A705V	.	A	-	2	0	ZNF750	78381365	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.130000	0.10498	-0.019000	0.14055	-0.339000	0.08088	GCG		0.567	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		136	175	0	0	0	1	0	136	175					A	80788076	G	A	80788076	3	1	88	1	0	0	0	0	1	0	0	0	18185	1087	38	1	61	1	ZNF750	17	80788076	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7872359	80788076	407134	165	33325											
GNAL	2774	broad.mit.edu	37	chr18	11752449	11752449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggcatggggtgtttgggcgGcaacagcaagacgacggaag	18	7	0	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:11752449G>A	ENST00000423027.3	+	1	338	c.17G>A	c.(16-18)gGc>gAc	p.G6D	GNAL_ENST00000269162.5_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000535121.1_Missense_Mutation_p.G6D			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	6					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						TGTTTGGGCGGCAACAGCAAG	0.557																																						ENST00000423027.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(16-18)gGc>gAc		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							96	97	97					18																	11752449		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752449G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.17G>A	18.37:g.11752449G>A	ENSP00000408489:p.Gly6Asp					GNAL_ENST00000535121.1_Missense_Mutation_p.G6D|GNAL_ENST00000269162.5_Missense_Mutation_p.G6D|GNAL_ENST00000334049.6_Intron	p.G6D			P38405	GNAL_HUMAN			1	338	+			6					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.17G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599844	0.87055	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88975	-2.45;-2.45;-2.45	4.04	4.04	0.47022	.	.	.	.	.	D	0.90783	0.7106	L	0.34521	1.04	0.34358	D	0.690637	D	0.57257	0.979	D	0.69654	0.965	D	0.93188	0.6580	9	0.59425	D	0.04	.	15.6287	0.76885	0.0:0.0:1.0:0.0	.	6	P38405	GNAL_HUMAN	D	6	ENSP00000439023:G6D;ENSP00000269162:G6D;ENSP00000408489:G6D	ENSP00000269162:G6D	G	+	2	0	GNAL	11742449	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.928000	0.92853	2.542000	0.85734	0.491000	0.48974	GGC		0.557	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		5	473	0	0	0	1	0	5	473					A	11752449	G	A	11752449	3	1	88	1	0	0	0	0	1	0	0	0	6536	1203	42	2	399	2	GNAL	18	11752449	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		11752449	66324799	166	33326											
FHOD3	80206	broad.mit.edu	37	chr18	33952645	33952645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcctgtctcgttaggcGgggcaagaagcacagcatca	12	11	3	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:33952645G>A	ENST00000359247.4	+	3	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	FHOD3_ENST00000590592.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000257209.4_Missense_Mutation_p.R92Q	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	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)		p.R92Q(1)		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)				CTCGTTAGGCGGGGCAAGAAG	0.527																																						ENST00000257209.4																			1	Substitution - Missense(1)	p.R92Q(1)	central_nervous_system(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(274-276)cGg>cAg		formin homology 2 domain containing 3							82	62	69					18																	33952645		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:33952645G>A	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.275G>A	18.37:g.33952645G>A	ENSP00000352186:p.Arg92Gln					FHOD3_ENST00000445677.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R92Q|FHOD3_ENST00000359247.4_Missense_Mutation_p.R92Q	p.R92Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			3	397	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	92			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.275G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.469151	0.84533	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.19250	2.16;2.16;2.16	5.07	5.07	0.68467	GTPase-binding/formin homology 3 (1);	0.059478	0.64402	D	0.000009	T	0.36635	0.0974	L	0.40543	1.245	0.28823	N	0.897568	D;D;P	0.71674	0.998;0.998;0.705	P;D;B	0.75484	0.74;0.986;0.016	T	0.09378	-1.0677	10	0.62326	D	0.03	.	13.8335	0.63395	0.0:0.0:1.0:0.0	.	92;92;92	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	Q	92	ENSP00000257209:R92Q;ENSP00000352186:R92Q;ENSP00000411430:R92Q	ENSP00000257209:R92Q	R	+	2	0	FHOD3	32206643	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.372000	0.73123	2.633000	0.89246	0.650000	0.86243	CGG		0.527	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		48	71	0	0	0	1	0	48	71					A	33952645	G	A	33952645	3	1	88	1	0	0	0	0	1	0	0	0	5908	1116	39	1	285	1	FHOD3	18	33952645	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	22200196	33952645	44124603	167	33327											
KIAA1632	57724	broad.mit.edu	37	chr18	43497761	43497761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattcccaatagtgggatgCcttctgcacagaacttctca	8	11	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr18:43497761C>T	ENST00000282041.5	-	17	3156	c.3122G>A	c.(3121-3123)gGc>gAc	p.G1041D	EPG5_ENST00000585906.1_5'Flank	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1041					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						TAGTGGGATGCCTTCTGCACA	0.413																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3121-3123)gGc>gAc		ectopic P-granules autophagy protein 5 homolog (C. elegans)							102	92	95					18																	43497761		1885	4115	6000	SO:0001583	missense	57724				autophagy			g.chr18:43497761C>T	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.3122G>A	18.37:g.43497761C>T	ENSP00000282041:p.Gly1041Asp						p.G1041D	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			17	3156	-			1041					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3122G>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806574	0.90623	.	.	ENSG00000152223	ENST00000282041	T	0.36340	1.26	5.7	5.7	0.88788	.	0.299857	0.35805	N	0.002975	T	0.61515	0.2353	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.62627	-0.6814	10	0.87932	D	0	-16.1012	19.8247	0.96612	0.0:1.0:0.0:0.0	.	1041;1041	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	D	1041	ENSP00000282041:G1041D	ENSP00000282041:G1041D	G	-	2	0	EPG5	41751759	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.976000	0.76135	2.696000	0.92011	0.655000	0.94253	GGC		0.413	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		4	228	0	0	0	1	0	4	228					T	43497761	C	T	43497761	3	4	88	1	0	0	0	0	1	0	0	0	8279	739	26	2	4729	2	KIAA1632	18	43497761	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	9545116	43497761	34579487	168	33328											
C3	718	broad.mit.edu	37	chr19	6678284	6678284	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgctgctgtccaacctGcacctcatccgagcctggag	11	16	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:6678284G>A	ENST00000245907.6	-	40	4821	c.4729C>T	c.(4729-4731)Cag>Tag	p.Q1577*	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1577	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TGTCCAACCTGCACCTCATCC	0.607																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4729-4731)Cag>Tag		complement component 3							86	66	73					19																	6678284		2203	4300	6503	SO:0001587	stop_gained	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6678284G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4729C>T	19.37:g.6678284G>A	ENSP00000245907:p.Gln1577*					C3_ENST00000599668.1_5'UTR	p.Q1577*	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	40	4821	-			1577			NTR.		A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	c.4729C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	42	9.718089	0.99247	.	.	ENSG00000125730	ENST00000245907	.	.	.	5.24	5.24	0.73138	.	2.360010	0.02152	U	0.058110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	12.1339	0.53959	0.0:0.1729:0.8271:0.0	.	.	.	.	X	1577	.	ENSP00000245907:Q1577X	Q	-	1	0	C3	6629284	0.738000	0.28186	0.992000	0.48379	0.134000	0.20937	1.336000	0.33850	2.463000	0.83235	0.454000	0.30748	CAG		0.607	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	210	0	0	0	1	0	5	210					A	6678284	G	A	6678284	4	1	88	1	0	0	0	0	0	1	0	0	2211	1328	46	2	270	2	C3	19	6678284	Nonsense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		6678284	52450699	169	33329											
ANGPTL4	51129	broad.mit.edu	37	chr19	8436173	8436173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagcatcacgggggaccGcaacagccgcctggccgtgc	14	15	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:8436173G>A	ENST00000301455.2	+	6	977	c.806G>A	c.(805-807)cGc>cAc	p.R269H	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.R231H|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.R102H	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	269	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ACGGGGGACCGCAACAGCCGC	0.657																																						ENST00000301455.2																			0				large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						c.(805-807)cGc>cAc		angiopoietin-like 4							45	45	45					19																	8436173		2203	4300	6503	SO:0001583	missense	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8436173G>A	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.806G>A	19.37:g.8436173G>A	ENSP00000301455:p.Arg269His					ANGPTL4_ENST00000541807.1_Missense_Mutation_p.R102H|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.R231H	p.R269H	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN			6	977	+			269			Fibrinogen C-terminal.		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	ENST00000301455.2	37	c.806G>A	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.222072	0.22457	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.21734	1.99;1.99;1.99	5.09	1.64	0.23874	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.358456	0.31268	N	0.007941	T	0.19287	0.0463	L	0.61218	1.895	0.09310	N	1	B;B	0.19073	0.033;0.033	B;B	0.19946	0.027;0.027	T	0.19877	-1.0292	10	0.52906	T	0.07	.	5.6719	0.17728	0.1771:0.0:0.6673:0.1556	.	231;269	A8MY84;Q9BY76	.;ANGL4_HUMAN	H	269;231;102	ENSP00000301455:R269H;ENSP00000377534:R231H;ENSP00000439833:R102H	ENSP00000301455:R269H	R	+	2	0	ANGPTL4	8342173	0.581000	0.26741	0.082000	0.20525	0.213000	0.24496	1.093000	0.30939	0.123000	0.18342	0.555000	0.69702	CGC		0.657	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314		4	279	0	0	0	1	0	4	279					A	8436173	G	A	8436173	3	1	88	1	0	0	0	0	1	0	0	0	616	1087	38	1	828	1	ANGPTL4	19	8436173	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1757889	8436173	50692810	170	33330											
RFX1	5989	broad.mit.edu	37	chr19	14088833	14088833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgtagctggcatcgccGccctccacatactgcacctg	10	17	0	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:14088833G>A	ENST00000254325.4	-	8	1134	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	300					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGCATCGCCGCCCTCCACAT	0.657																																						ENST00000254325.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(898-900)ggC>ggT		regulatory factor X, 1 (influences HLA class II expression)							122	110	114					19																	14088833		2203	4300	6503	SO:0001819	synonymous_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14088833G>A		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.900C>T	19.37:g.14088833G>A							p.G300G	NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		8	1134	-			300						Silent	SNP	ENST00000254325.4	37	c.900C>T	CCDS12301.1																																																																																				0.657	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		5	491	0	0	0	1	0	5	491					A	14088833	G	A	14088833	2	1	88	1	0	0	0	0	0	0	0	1	13312	1074	38	1		1	RFX1	19	14088833	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	5652660	14088833	45040150	171	33331											
TSHZ3	57616	broad.mit.edu	37	chr19	31768582	31768582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtcggtgatgatggccGtgctgccactcaaactgctg	15	10	1	2	rs112525703		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:31768582G>A	ENST00000240587.4	-	2	2444	c.2117C>T	c.(2116-2118)aCg>aTg	p.T706M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	706					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)					GATGATGGCCGTGCTGCCACT	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		1340	0.0		0.0	False		,,,				2504	0.0					ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2116-2118)aCg>aTg		teashirt zinc finger homeobox 3							52	52	52					19																	31768582		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768582G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2117C>T	19.37:g.31768582G>A	ENSP00000240587:p.Thr706Met						p.T706M	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2444	-	Esophageal squamous(110;0.226)		706					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2117C>T	CCDS12421.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	17.95	3.514351	0.64522	.	.	ENSG00000121297	ENST00000240587	T	0.38722	1.12	5.4	5.4	0.78164	.	5.739330	0.00951	N	0.002966	T	0.67961	0.2949	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.49652	-0.8917	10	0.54805	T	0.06	-23.6274	19.176	0.93603	0.0:0.0:1.0:0.0	.	706	Q63HK5	TSH3_HUMAN	M	706	ENSP00000240587:T706M	ENSP00000240587:T706M	T	-	2	0	TSHZ3	36460422	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.441000	0.97557	2.520000	0.84964	0.650000	0.86243	ACG		0.627	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		116	268	0	0	0	1	0	116	268					A	31768582	G	A	31768582	3	1	88	1	0	0	0	0	1	0	0	0	16678	1145	40	1	1132	1	TSHZ3	19	31768582	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	17679749	31768582	27360401	172	33332											
MRPS12	6183	broad.mit.edu	37	chr19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgcaagtgctgtcgagtgCggctcagcactggccgcgag	15	12	1	0	rs140018981	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:39423173C>T	ENST00000407800.2	+	2	591	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	SARS2_ENST00000430193.3_5'Flank|MRPS12_ENST00000402029.3_Missense_Mutation_p.R84W|SARS2_ENST00000221431.6_5'Flank|CTC-360G5.9_ENST00000599320.1_lincRNA|MRPS12_ENST00000308018.4_Missense_Mutation_p.R84W|SARS2_ENST00000594171.1_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000600042.1_5'Flank|SARS2_ENST00000448145.2_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	84					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)			CTGTCGAGTGCGGCTCAGCAC	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		18414	0.002		0.0	False		,,,				2504	0.0					ENST00000407800.2																			0				endometrium(1)|large_intestine(1)	2						c.(250-252)Cgg>Tgg		mitochondrial ribosomal protein S12							58	54	55					19																	39423173		2203	4299	6502	SO:0001583	missense	6183				translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:39423173C>T	Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"Mitochondrial ribosomal proteins / small subunits"	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.250C>T	19.37:g.39423173C>T	ENSP00000384952:p.Arg84Trp					CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.R84W|MRPS12_ENST00000402029.3_Missense_Mutation_p.R84W|SARS2_ENST00000448145.2_Intron	p.R84W	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	591	+	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)		84					Q53X98	Missense_Mutation	SNP	ENST00000407800.2	37	c.250C>T	CCDS12525.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	21.5	4.155882	0.78114	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.56611	0.45;0.45;0.45	6.07	5.03	0.67393	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.054650	0.85682	D	0.000000	D	0.82462	0.5042	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89042	0.3449	10	0.87932	D	0	-32.1337	14.5652	0.68171	0.1473:0.8527:0.0:0.0	.	84	O15235	RT12_HUMAN	W	84	ENSP00000308845:R84W;ENSP00000384952:R84W;ENSP00000384579:R84W	ENSP00000308845:R84W	R	+	1	2	MRPS12	44115013	1.000000	0.71417	0.997000	0.53966	0.411000	0.31082	3.906000	0.56340	1.559000	0.49555	0.655000	0.94253	CGG		0.662	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1			5	422	0	0	0	1	0	5	422					T	39423173	C	T	39423173	3	4	88	1	0	0	0	0	1	0	0	0	9864	759	27	1	256	1	MRPS12	19	39423173	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	7654591	39423173	19705810	173	33333											
BCKDHA	593	broad.mit.edu	37	chr19	41916889	41916889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgcttaacaccatggaccGcatcctctatgagtctcagc	7	14	2	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:41916889G>A	ENST00000269980.2	+	3	718	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	117					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ACCATGGACCGCATCCTCTAT	0.587																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(349-351)cGc>cAc		branched chain keto acid dehydrogenase E1, alpha polypeptide							144	131	136					19																	41916889		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41916889G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.350G>A	19.37:g.41916889G>A	ENSP00000269980:p.Arg117His					BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H	p.R117H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			3	718	+			117					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.350G>A	CCDS12581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.349762|5.349762	0.95830|0.95830	.|.	.|.	ENSG00000248098|ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000541315|ENST00000540732;ENST00000269980;ENST00000457836;ENST00000378196	.|D;D;D	.|0.99194	.|-5.54;-5.54;-5.54	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Dehydrogenase, E1 component (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;P;D;B	.|0.69078	.|0.997;0.49;0.986;0.129	.|D;B;P;B	.|0.64144	.|0.922;0.041;0.751;0.043	D|D	0.99620|0.99620	1.0983|1.0983	5|10	.|0.45353	.|T	.|0.12	-22.6744|-22.6744	17.984|17.984	0.89151|0.89151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;117;117;151	.|B4DP47;Q59EI3;P12694;F5H5P2	.|.;.;ODBA_HUMAN;.	T|H	53|151;117;95;117	.|ENSP00000443246:R151H;ENSP00000269980:R117H;ENSP00000416000:R95H	.|ENSP00000269980:R117H	A|R	+|+	1|2	0|0	BCKDHA|BCKDHA;CTC-435M10.3	46608729|46608729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.252000|9.252000	0.95491|0.95491	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		6	893	0	0	0	1	0	6	893					A	41916889	G	A	41916889	3	1	88	1	0	0	0	0	1	0	0	0	1360	1087	38	1	360	1	BCKDHA	19	41916889	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	2493716	41916889	17212094	174	33334											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		7	752						7	752	---	---	---	---	-	42753151	GAA	-	42753149	7	5	88	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-IB-A6UF-01A-23D-A33T-08	836260	42753149	16375834	175	33335											
IRGQ	126298	broad.mit.edu	37	chr19	44096739	44096739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcatagccctgggagtccGccaggccgtagggggaacac	15	13	0	0	rs553066545		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:44096739G>A	ENST00000602269.1	-	2	1496	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000422989.1_Silent_p.G437G|IRGQ_ENST00000601520.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	437	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CTGGGAGTCCGCCAGGCCGTA	0.721																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1309-1311)ggC>ggT		immunity-related GTPase family, Q							27	31	30					19																	44096739		2203	4296	6499	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44096739G>A	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.1311C>T	19.37:g.44096739G>A						IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Silent_p.G437G|L34079.2_ENST00000594374.1_Intron	p.G437G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1466	-		Prostate(69;0.0199)	437					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1311C>T	CCDS33040.1																																																																																				0.721	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		5	398	0	0	0	1	0	5	398					A	44096739	G	A	44096739	2	1	88	1	0	0	0	0	0	0	0	1	7869	1074	38	1		1	IRGQ	19	44096739	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1343590	44096739	15032244	176	33336											
BCL3	602	broad.mit.edu	37	chr19	45262737	45262737	+	Frame_Shift_Del	DEL	C	C	-													tcccagtctccccccagggaCccccctggattccccatggc							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:45262737delC	ENST00000164227.5	+	9	1474	c.1230delC	c.(1228-1230)gacfs	p.D410fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	410	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)				CCCCCAGGGACCCCCCTGGAT	0.642			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1228-1230)gafs		B-cell CLL/lymphoma 3							185	200	195					19																	45262737		2203	4300	6503	SO:0001589	frameshift_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262737delC	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.1230delC	19.37:g.45262737delC	ENSP00000164227:p.Asp410fs						p.D410fs	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1474	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	410			Pro/Ser-rich.			Frame_Shift_Del	DEL	ENST00000164227.5	37	c.1230delC	CCDS12642.2																																																																																				0.642	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		7	2263						7	2263	---	---	---	---	-	45262737	C	-	45262737	7	5	88	1	0	1	0	1	0	0	0	0	1376	506	18	0	1264	0	BCL3	19	45262737	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	1165998	45262737	13866246	177	33337											
BCAM	4059	broad.mit.edu	37	chr19	45316707	45316707	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctcccagagggctacatgaCcagccgcacggtccgggagg	14	14	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:45316707C>A	ENST00000270233.6	+	6	636	c.614C>A	c.(613-615)aCc>aAc	p.T205N	BCAM_ENST00000589651.1_Missense_Mutation_p.T205N	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	205	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			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)				GGCTACATGACCAGCCGCACG	0.711																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(613-615)aCc>aAc		basal cell adhesion molecule (Lutheran blood group)							31	32	31					19																	45316707		2191	4272	6463	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45316707C>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.614C>A	19.37:g.45316707C>A	ENSP00000270233:p.Thr205Asn					BCAM_ENST00000270233.6_Missense_Mutation_p.T205N	p.T205N			P50895	BCAM_HUMAN			6	658	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	205			Ig-like V-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.614C>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	9.602	1.128897	0.21041	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.78126	-1.15;-1.15	4.15	2.85	0.33270	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76421	0.3985	M	0.74258	2.255	0.20196	N	0.999921	P	0.42556	0.783	B	0.44133	0.442	T	0.64989	-0.6277	9	0.27785	T	0.31	-14.6738	7.5419	0.27744	0.0:0.8263:0.0:0.1737	.	205	P50895	BCAM_HUMAN	N	205	ENSP00000270233:T205N;ENSP00000375817:T205N	ENSP00000270233:T205N	T	+	2	0	BCAM	50008547	0.118000	0.22208	0.873000	0.34254	0.413000	0.31143	0.707000	0.25704	2.026000	0.59711	0.462000	0.41574	ACC		0.711	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		105	285	1	0	2.59407e-49	1	2.70886e-49	105	285					A	45316707	C	A	45316707	3	1	88	1	0	0	0	0	1	0	0	0	1345	507	18	3	636	3	BCAM	19	45316707	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	53970	45316707	13812276	178	33338											
DHX34	9704	broad.mit.edu	37	chr19	47870310	47870310	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caccaccagccagcctggaaAccgccatcctctacctccgg	7	20	1	0	rs200731942		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:47870310A>G	ENST00000328771.4	+	7	2015	c.1666A>G	c.(1666-1668)Acc>Gcc	p.T556A	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	556					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T556A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCCTGGAAACCGCCATCCT	0.612																																						ENST00000328771.4																			1	Substitution - Missense(1)	p.T556A(1)	skin(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1666-1668)Acc>Gcc		DEAH (Asp-Glu-Ala-His) box polypeptide 34							36	38	37					19																	47870310		2203	4287	6490	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47870310A>G	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1666A>G	19.37:g.47870310A>G	ENSP00000331907:p.Thr556Ala					DHX34_ENST00000471451.1_3'UTR	p.T556A	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	7	2015	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	556					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1666A>G	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870215	0.17322	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02472	4.28	5.46	5.46	0.80206	Helicase-associated domain (1);	0.000000	0.64402	D	0.000005	T	0.03651	0.0104	L	0.31926	0.97	0.58432	D	0.999997	B	0.33171	0.4	B	0.33196	0.159	T	0.53872	-0.8377	10	0.49607	T	0.09	-21.9691	14.4994	0.67711	1.0:0.0:0.0:0.0	.	556	Q14147	DHX34_HUMAN	A	556;471	ENSP00000331907:T556A	ENSP00000257252:T471A	T	+	1	0	DHX34	52562145	1.000000	0.71417	0.392000	0.26245	0.658000	0.38924	5.824000	0.69279	2.066000	0.61787	0.459000	0.35465	ACC		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		7	315	0	0	0	1	0	7	315					G	47870310	A	G	47870310	3	3	88	1	0	0	0	0	1	0	0	0	4523	43	2	4	1688	4	DHX34	19	47870310	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08	2553603	47870310	11258673	179	33339											
FTL	2512	broad.mit.edu	37	chr19	49468811	49468811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccgacgtggaggcagCcgtcaacagcctggtcaatt	11	13	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:49468811C>T	ENST00000331825.6	+	1	254	c.47C>T	c.(46-48)gCc>gTc	p.A16V	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	16	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GTGGAGGCAGCCGTCAACAGC	0.567																																						ENST00000331825.6																			0				cervix(1)|kidney(3)|lung(5)	9						c.(46-48)gCc>gTc		ferritin, light polypeptide	Iron Dextran(DB00893)						70	69	69					19																	49468811		2203	4300	6503	SO:0001583	missense	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49468811C>T	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"ferritin light polypeptide-like 3", "L apoferritin", "ferritin L subunit", "ferritin light chain", "ferritin L-chain", "neurodegeneration with brain iron accumulation 3"	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.47C>T	19.37:g.49468811C>T	ENSP00000366525:p.Ala16Val						p.A16V	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	1	254	+		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)	16			Ferritin-like diiron.		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Missense_Mutation	SNP	ENST00000331825.6	37	c.47C>T	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979521	0.74360	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	T	0.66638	-0.22	5.14	1.49	0.22878	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.309717	0.34025	N	0.004328	T	0.68723	0.3032	M	0.88310	2.945	0.27691	N	0.946119	B;B	0.31730	0.236;0.337	B;B	0.32980	0.087;0.156	T	0.67309	-0.5703	10	0.72032	D	0.01	.	9.6464	0.39870	0.1386:0.5426:0.3188:0.0	.	16;16	P02792;F5H1X1	FRIL_HUMAN;.	V	16	ENSP00000366525:A16V	ENSP00000366525:A16V	A	+	2	0	FTL	54160623	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	1.633000	0.37113	0.787000	0.33731	0.655000	0.94253	GCC		0.567	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		5	486	0	0	0	1	0	5	486					T	49468811	C	T	49468811	3	4	88	1	0	0	0	0	1	0	0	0	6111	739	26	2	49	2	FTL	19	49468811	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	1598501	49468811	9660172	180	33340											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					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)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	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.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	208						7	208	---	---	---	---	-	50868838	GCA	-	50868836	7	5	88	1	0	1	0	1	0	0	0	0	10207	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-IB-A6UF-01A-23D-A33T-08	1400025	50868836	8260147	181	33341											
ZNF551	90233	broad.mit.edu	37	chr19	58199100	58199100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgagaaatcctttagccGcaaatttatcctgattcaac	6	9	1	2	rs138423649		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:58199100G>A	ENST00000282296.5	+	3	1642	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCTTTAGCCGCAAATTTATC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21000	0.0		0.0	False		,,,				2504	0.0					ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1456-1458)cGc>cAc		zinc finger protein 551		G	HIS/ARG	0,4406		0,0,2203	77	75	76		1409	-3.3	0	19	dbSNP_134	76	3,8597	3.0+/-9.4	0,3,4297	no	missense	ZNF551	NM_138347.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	470/655	58199100	3,13003	2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199100G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1457G>A	19.37:g.58199100G>A	ENSP00000282296:p.Arg486His					ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.R486H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1642	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	486					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1457G>A	CCDS12959.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.294|4.294	0.053749|0.053749	0.08291|0.08291	0.0|0.0	3.49E-4|3.49E-4	ENSG00000228006|ENSG00000204519	ENST00000541705|ENST00000356715;ENST00000282296;ENST00000359821	.|.	.|.	.|.	2.48|2.48	-3.34|-3.34	0.04943|0.04943	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.615670|.	0.00805|.	U|.	0.001456|.	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.15719	.|0.014	.|B	.|0.06405	.|0.002	T|T	0.32534|0.32534	-0.9903|-0.9903	7|8	0.19590|0.13108	T|T	0.45|0.6	.|.	6.9251|6.9251	0.24410|0.24410	0.4892:0.0:0.5108:0.0|0.4892:0.0:0.5108:0.0	.|.	.|486	.|Q7Z340	.|ZN551_HUMAN	V|H	102|486;470;269	.|.	ENSP00000437781:A102V|ENSP00000282296:R470H	A|R	-|+	2|2	0|0	AC004017.1|ZNF551	62890912|62890912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-4.824000|-4.824000	0.00181|0.00181	-0.805000|-0.805000	0.04404|0.04404	-0.300000|-0.300000	0.09419|0.09419	GCG|CGC		0.423	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		6	511	0	0	0	1	0	6	511					A	58199100	G	A	58199100	3	1	88	1	0	0	0	0	1	0	0	0	18036	1087	38	1	1419	1	ZNF551	19	58199100	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	7330264	58199100	929883	182	33342											
ZNF544	27300	broad.mit.edu	37	chr19	58773560	58773560	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgtgggaaatccttcTcccagagttccaaacttatt	7	11	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:58773560T>A	ENST00000596652.1	+	6	1822	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	ZNF544_ENST00000600044.1_Missense_Mutation_p.S502T|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.S502T|ZNF544_ENST00000599953.1_Missense_Mutation_p.S388T|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.S530T|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S502T|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	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)			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)		GAAATCCTTCTCCCAGAGTTC	0.448																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1588-1590)Tcc>Acc		zinc finger protein 544							84	87	86					19																	58773560		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773560T>A	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.1588T>A	19.37:g.58773560T>A	ENSP00000469635:p.Ser530Thr					CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.S388T|ZNF544_ENST00000415203.2_Missense_Mutation_p.S502T|ZNF544_ENST00000600044.1_Missense_Mutation_p.S502T|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Missense_Mutation_p.S530T|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Missense_Mutation_p.S502T|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA	p.S530T	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2062	+		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)	530					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1588T>A	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	T	4.531	0.098532	0.08681	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07216	3.21;3.21	2.8	-1.2	0.09554	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.02202	-0.64	0.09310	N	0.999998	B;B;B	0.17852	0.001;0.024;0.024	B;B;B	0.19946	0.003;0.027;0.027	T	0.46345	-0.9198	9	0.29301	T	0.29	.	8.5507	0.33449	0.2584:0.0:0.0:0.7416	.	502;502;530	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	T	530;502	ENSP00000269829:S530T;ENSP00000394341:S502T	ENSP00000269829:S530T	S	+	1	0	ZNF544	63465372	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.883000	0.04170	-0.077000	0.12752	-0.717000	0.03617	TCC		0.448	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		7	653	0	0	0	1	0	7	653					A	58773560	T	A	58773560	3	1	88	1	0	0	0	0	1	0	0	0	18030	1551	54	5	1602	5	ZNF544	19	58773560	Missense_Mutation	SNP	T	TCGA-IB-A6UF-01A-23D-A33T-08	574460	58773560	355423	183	33343											
ZNF544	27300	broad.mit.edu	37	chr19	58773583	58773583	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagttccaaacttattacGcatcagcgaattcacactgg	7	11	2	1	rs542580955	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr19:58773583G>A	ENST00000596652.1	+	6	1845	c.1611G>A	c.(1609-1611)acG>acA	p.T537T	ZNF544_ENST00000600044.1_Silent_p.T509T|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Silent_p.T509T|ZNF544_ENST00000599953.1_Silent_p.T395T|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000269829.4_Silent_p.T537T|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Silent_p.T509T|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		AACTTATTACGCATCAGCGAA	0.433													G|||	3	0.000599042	0.0	0.0	5008	,	,		22587	0.0		0.0	False		,,,				2504	0.0031					ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1609-1611)acG>acA		zinc finger protein 544							89	91	90					19																	58773583		2203	4300	6503	SO:0001819	synonymous_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773583G>A	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.1611G>A	19.37:g.58773583G>A						CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Silent_p.T395T|ZNF544_ENST00000415203.2_Silent_p.T509T|ZNF544_ENST00000600044.1_Silent_p.T509T|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Silent_p.T537T|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Silent_p.T509T|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA	p.T537T	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2085	+		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)	537					A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	c.1611G>A	CCDS12973.1																																																																																				0.433	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		7	668	0	0	0	1	0	7	668					A	58773583	G	A	58773583	2	1	88	1	0	0	0	0	0	0	0	1	18030	1074	38	1		1	ZNF544	19	58773583	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	23	58773583	355400	184	33344											
FERMT1	55612	broad.mit.edu	37	chr20	6090996	6090996	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgaggctggtacatatccGcaagtgcttctggggactgg	14	10	1	0	rs147864238		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:6090996G>A	ENST00000217289.4	-	5	1483	c.695C>T	c.(694-696)gCg>gTg	p.A232V	FERMT1_ENST00000536936.1_Intron	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	232	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GTACATATCCGCAAGTGCTTC	0.532																																						ENST00000217289.4																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						c.(694-696)gCg>gTg		fermitin family member 1		G	VAL/ALA	0,4406		0,0,2203	133	114	120		695	4.8	0.6	20	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FERMT1	NM_017671.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	232/678	6090996	1,13005	2203	4300	6503	SO:0001583	missense	55612				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	g.chr20:6090996G>A	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.695C>T	20.37:g.6090996G>A	ENSP00000217289:p.Ala232Val					FERMT1_ENST00000536936.1_Intron	p.A232V	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN			5	1483	-			232			FERM.		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	ENST00000217289.4	37	c.695C>T	CCDS13098.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169656	0.57584	0.0	1.16E-4	ENSG00000101311	ENST00000217289;ENST00000339538	T	0.48201	0.82	5.81	4.85	0.62838	FERM, N-terminal (1);Band 4.1 domain (1);	0.047428	0.85682	D	0.000000	T	0.50837	0.1639	M	0.66506	2.035	0.80722	D	1	B;B	0.33044	0.326;0.395	B;B	0.35312	0.078;0.2	T	0.53450	-0.8437	10	0.49607	T	0.09	-4.3671	16.8229	0.85923	0.0:0.1287:0.8713:0.0	.	232;232	Q9BQL6-4;Q9BQL6	.;FERM1_HUMAN	V	232	ENSP00000217289:A232V	ENSP00000217289:A232V	A	-	2	0	FERMT1	6038996	1.000000	0.71417	0.595000	0.28798	0.348000	0.29142	6.593000	0.74100	1.427000	0.47276	0.655000	0.94253	GCG		0.532	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077908.2	NM_017671		4	220	0	0	0	1	0	4	220					A	6090996	G	A	6090996	3	1	88	1	0	0	0	0	1	0	0	0	5842	1087	38	1	1382	1	FERMT1	20	6090996	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08		6090996	56934524	185	33345											
PAK7	57144	broad.mit.edu	37	chr20	9546990	9546990	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggtaggtgtcagaccctgaCagtggagggctgaggaccat	17	8	1	3			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:9546990C>G	ENST00000378429.3	-	6	1578	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	PAK7_ENST00000353224.5_Silent_p.L344L|PAK7_ENST00000378423.1_Silent_p.L344L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	344	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGACCCTGACAGTGGAGGGC	0.537																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1030-1032)ctG>ctC		p21 protein (Cdc42/Rac)-activated kinase 7							119	121	120					20																	9546990		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546990C>G	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.1032G>C	20.37:g.9546990C>G						PAK7_ENST00000353224.5_Silent_p.L344L|PAK7_ENST00000378423.1_Silent_p.L344L	p.L344L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1578	-			344			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1032G>C	CCDS13107.1																																																																																				0.537	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			181	293	0	0	0	1	0	181	293					G	9546990	C	G	9546990	2	3	88	1	0	0	0	0	0	0	0	1	11447	465	17	5		5	PAK7	20	9546990	Silent	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	3455994	9546990	53478530	186	33346											
CD93	22918	broad.mit.edu	37	chr20	23065523	23065523	+	Frame_Shift_Del	DEL	C	C	-													acaagctgtcgcagagggggCcccccgggcccacacactca							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:23065523delC	ENST00000246006.4	-	1	1454	c.1307delG	c.(1306-1308)ggcfs	p.G436fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	436	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGAGGGGGCCCCCCGGGCC	0.637																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1306-1308)gcfs		CD93 molecule							44	55	51					20																	23065523		2203	4300	6503	SO:0001589	frameshift_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065523delC	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.1307delG	20.37:g.23065523delC	ENSP00000246006:p.Gly436fs						p.G436fs	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1454	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		436			EGF-like 5; calcium-binding (Potential).		O00274	Frame_Shift_Del	DEL	ENST00000246006.4	37	c.1307delG	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		9	1663						9	1663	---	---	---	---	-	23065523	C	-	23065523	7	5	88	1	0	1	0	1	0	0	0	0	3056	739	26	0	659	0	CD93	20	23065523	Frame_Shift_Del	DEL	C	TCGA-IB-A6UF-01A-23D-A33T-08	13518533	23065523	39959997	187	33347											
PPP1R16B	26051	broad.mit.edu	37	chr20	37546918	37546918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagtgcctaccagtatgCgctggccaacggggatgtct	14	11	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:37546918C>T	ENST00000299824.1	+	11	1502	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A396V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	438					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.A438V(2)		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)				TACCAGTATGCGCTGGCCAAC	0.622																																						ENST00000299824.1																			2	Substitution - Missense(2)	p.A438V(2)	large_intestine(1)|prostate(1)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1312-1314)gCg>gTg		protein phosphatase 1, regulatory subunit 16B							157	150	152					20																	37546918		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37546918C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1313C>T	20.37:g.37546918C>T	ENSP00000299824:p.Ala438Val					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A396V	p.A438V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1502	+		Myeloproliferative disorder(115;0.00878)	438					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1313C>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.22|17.22	3.335057|3.335057	0.60853|0.60853	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.71698|.	-0.4;-0.59|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.265483|.	0.37809|.	N|.	0.001934|.	T|T	0.30355|0.30355	0.0762|0.0762	N|N	0.08118|0.08118	0|0	0.27868|0.27868	N|N	0.94016|0.94016	P;B|.	0.35872|.	0.525;0.024|.	B;B|.	0.27380|.	0.079;0.002|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.59425|.	D|.	0.04|.	.|.	17.1291|17.1291	0.86722|0.86722	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	396;438|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	V|C	438;396|339	ENSP00000299824:A438V;ENSP00000362428:A396V|.	ENSP00000299824:A438V|.	A|R	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36980332|36980332	0.684000|0.684000	0.27642|0.27642	0.997000|0.997000	0.53966|0.53966	0.890000|0.890000	0.51754|0.51754	2.638000|2.638000	0.46562|0.46562	2.474000|2.474000	0.83562|0.83562	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.622	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		8	1416	0	0	0	1	0	8	1416					T	37546918	C	T	37546918	3	4	88	1	0	0	0	0	1	0	0	0	12413	768	27	1	1351	1	PPP1R16B	20	37546918	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08	14481395	37546918	25478602	188	33348											
ZFP64	55734	broad.mit.edu	37	chr20	50769918	50769918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgccttttcaagtccgaGctgattttgaacttggcgct	10	9	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:50769918G>A	ENST00000216923.4	-	6	1162	c.813C>T	c.(811-813)agC>agT	p.S271S	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Silent_p.S269S|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.S217S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	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(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCAAGTCCGAGCTGATTTTGA	0.557																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(811-813)agC>agT		ZFP64 zinc finger protein							52	49	50					20																	50769918		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769918G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.813C>T	20.37:g.50769918G>A						ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Silent_p.S217S|ZFP64_ENST00000371515.4_Silent_p.S269S|ZFP64_ENST00000477786.1_Intron	p.S271S	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			6	1162	-			271					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.813C>T	CCDS13440.1																																																																																				0.557	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		81	262	0	0	0	1	0	81	262					A	50769918	G	A	50769918	2	1	88	1	0	0	0	0	0	0	0	1	17705	962	34	2		2	ZFP64	20	50769918	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	13223000	50769918	12255602	189	33349											
BCAS1	8537	broad.mit.edu	37	chr20	52645037	52645037	+	Frame_Shift_Del	DEL	T	T	-													gttggctgtcacctggcaccTtttcctgtcccttgtccagc					rs143209009		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr20:52645037delT	ENST00000395961.3	-	4	783	c.617delA	c.(616-618)aagfs	p.K206fs	BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	206						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCTGGCACCTTTTCCTGTCC	0.552																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(616-618)agfs		breast carcinoma amplified sequence 1							227	209	215					20																	52645037		2203	4300	6503	SO:0001589	frameshift_variant	8537					cytoplasm	protein binding	g.chr20:52645037delT	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.617delA	20.37:g.52645037delT	ENSP00000379290:p.Lys206fs					BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs	p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	783	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		206					A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	37	c.617delA	CCDS13444.1																																																																																				0.552	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		7	1413						7	1413	---	---	---	---	-	52645037	T	-	52645037	7	5	88	1	0	1	0	1	0	0	0	0	1351	1609	56	0	1173	0	BCAS1	20	52645037	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	1875119	52645037	10380483	190	33350											
TIAM1	7074	broad.mit.edu	37	chr21	32513695	32513695	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcagggcgaacagctcCctgagcagaagtgggtactt	14	10	1	2			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr21:32513695C>A	ENST00000286827.3	-	22	4074	c.3603G>T	c.(3601-3603)agG>agT	p.R1201S	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1141S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1201	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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						CGAACAGCTCCCTGAGCAGAA	0.622																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3601-3603)agG>agT		T-cell lymphoma invasion and metastasis 1							136	120	126					21																	32513695		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32513695C>A		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.3603G>T	21.37:g.32513695C>A	ENSP00000286827:p.Arg1201Ser					TIAM1_ENST00000541036.1_Missense_Mutation_p.R1141S	p.R1201S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			22	4074	-			1201			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3603G>T	CCDS13609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.149449|3.149449	0.57151|0.57151	.|.	.|.	ENSG00000156299|ENSG00000156299	ENST00000399841|ENST00000286827;ENST00000541036	.|T;T	.|0.68181	.|-0.31;-0.31	5.54|5.54	4.6|4.6	0.57074|0.57074	.|Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	.|0.286916	.|0.38663	.|N	.|0.001620	.|T	.|0.49779	.|0.1577	L|L	0.28740|0.28740	0.885|0.885	0.45580|0.45580	D|D	0.998526|0.998526	.|P;P;B	.|0.38195	.|0.568;0.622;0.393	.|B;B;B	.|0.35770	.|0.133;0.21;0.137	.|T	.|0.53641	.|-0.8410	.|10	0.87932|0.54805	D|T	0|0.06	.|.	6.7797|6.7797	0.23638|0.23638	0.0:0.7003:0.1511:0.1486|0.0:0.7003:0.1511:0.1486	.|.	.|1141;1141;1201	.|F5GZ53;B7ZLR6;Q13009	.|.;.;TIAM1_HUMAN	X|S	1041|1201;1141	.|ENSP00000286827:R1201S;ENSP00000441570:R1141S	ENSP00000382735:G1041X|ENSP00000286827:R1201S	G|R	-|-	1|3	0|2	TIAM1|TIAM1	31435566|31435566	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	1.201000|1.201000	0.32259|0.32259	2.590000|2.590000	0.87494|0.87494	0.563000|0.563000	0.77884|0.77884	GGA|AGG		0.622	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		179	263	1	0	4.93658e-92	1	5.20104e-92	179	263					A	32513695	C	A	32513695	3	1	88	1	0	0	0	0	1	0	0	0	15942	622	22	3	1204	3	TIAM1	21	32513695	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		32513695	15616200	191	33351											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		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.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	1111						7	1111	---	---	---	---	-	34799292	T	-	34799292	7	5	88	1	0	1	0	1	0	0	0	0	7580	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-IB-A6UF-01A-23D-A33T-08	2285597	34799292	13330603	192	33352											
BCR	613	broad.mit.edu	37	chr22	23657666	23657666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggccatccctgcccCggacagcaagagacagagca	13	14	0	2	rs2227942		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:23657666C>T	ENST00000305877.8	+	23	4524	c.3773C>T	c.(3772-3774)cCg>cTg	p.P1258L	BCR_ENST00000359540.3_Missense_Mutation_p.P1214L|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1258					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)	ATCCCTGCCCCGGACAGCAAG	0.607			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"ABL1,  FGFR1, JAK2 "		"CML, ALL, AML"	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(3772-3774)cCg>cTg		breakpoint cluster region																																				SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23657666C>T		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3773C>T	22.37:g.23657666C>T	ENSP00000303507:p.Pro1258Leu					BCR_ENST00000359540.3_Missense_Mutation_p.P1214L|BCR_ENST00000436990.2_3'UTR	p.P1258L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			23	4524	+			1258					P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.3773C>T	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.196472	0.79015	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.31510	1.49;1.77	4.72	3.65	0.41850	Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	N	0.24115	0.695	0.80722	D	1	B;D;B	0.64830	0.014;0.994;0.002	B;P;B	0.59546	0.009;0.859;0.002	T	0.12915	-1.0529	10	0.54805	T	0.06	.	12.2389	0.54532	0.0:0.8283:0.1717:0.0	rs2227942	847;1214;1258	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	L	1258;1214;923	ENSP00000303507:P1258L;ENSP00000352535:P1214L	ENSP00000303507:P1258L	P	+	2	0	BCR	21987666	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	5.842000	0.69417	1.052000	0.40392	0.305000	0.20034	CCG		0.607	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		4	259	0	0	0	1	0	4	259					T	23657666	C	T	23657666	3	4	88	1	0	0	0	0	1	0	0	0	1389	652	23	1	3863	1	BCR	22	23657666	Missense_Mutation	SNP	C	TCGA-IB-A6UF-01A-23D-A33T-08		23657666	27646900	193	33353											
PIWIL3	440822	broad.mit.edu	37	chr22	25124284	25124284	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattgggcatttggtacataGgtatctttttatgctgtcat	9	5	2	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:25124284G>A	ENST00000332271.5	-	15	2208	c.1792C>T	c.(1792-1794)Cta>Tta	p.L598L	PIWIL3_ENST00000533313.1_Silent_p.L480L|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.L480L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	598	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGTACATAGGTATCTTTTT	0.418																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1792-1794)Cta>Tta		piwi-like RNA-mediated gene silencing 3							197	181	186					22																	25124284		2203	4300	6503	SO:0001819	synonymous_variant	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25124284G>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1792C>T	22.37:g.25124284G>A						PIWIL3_ENST00000533313.1_Silent_p.L480L|PIWIL3_ENST00000527701.1_Silent_p.L480L|PIWIL3_ENST00000532537.2_5'UTR	p.L598L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			15	2208	-			598			Piwi.			Silent	SNP	ENST00000332271.5	37	c.1792C>T	CCDS33623.1																																																																																				0.418	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		193	289	0	0	0	1	0	193	289					A	25124284	G	A	25124284	2	1	88	1	0	0	0	0	0	0	0	1	12001	991	35	2		2	PIWIL3	22	25124284	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	1466618	25124284	26180282	194	33354											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189570	47189570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggtggtcatggagacgGccaaccgtgtgctgcgtaac	15	11	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:47189570G>A	ENST00000337137.4	+	3	458	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.A79T|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.A98T	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	98							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)		CATGGAGACGGCCAACCGTGT	0.687																																						ENST00000337137.4																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22						c.(292-294)Gcc>Acc		TBC1 domain family, member 22A							44	37	39					22																	47189570		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47189570G>A	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.292G>A	22.37:g.47189570G>A	ENSP00000336724:p.Ala98Thr					TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.A51T|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.A79T|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.A98T	p.A98T	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	3	458	+		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)	98					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.292G>A	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260204	0.95368	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.52295	1.71;0.67;1.27;0.99;1.71	4.8	4.8	0.61643	.	0.053327	0.85682	D	0.000000	T	0.68787	0.3039	M	0.79475	2.455	0.80722	D	1	P;D;D;P	0.76494	0.87;0.998;0.999;0.87	P;D;D;P	0.70935	0.542;0.969;0.971;0.542	T	0.71813	-0.4479	10	0.52906	T	0.07	-6.3978	16.6066	0.84831	0.0:0.0:1.0:0.0	.	98;79;98;98	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	T	98;51;98;79;51	ENSP00000336724:A98T;ENSP00000370383:A51T;ENSP00000384036:A98T;ENSP00000347932:A79T;ENSP00000385634:A51T	ENSP00000336724:A98T	A	+	1	0	TBC1D22A	45568234	1.000000	0.71417	0.734000	0.30879	0.788000	0.44548	8.819000	0.91997	2.484000	0.83849	0.609000	0.83330	GCC		0.687	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		5	215	0	0	0	1	0	5	215					A	47189570	G	A	47189570	3	1	88	1	0	0	0	0	1	0	0	0	15663	1203	42	2	302	2	TBC1D22A	22	47189570	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	22065286	47189570	4114996	195	33355											
FAM116B	414918	broad.mit.edu	37	chr22	50753343	50753343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatgagtcagcacaggccGgaagcacctggggccgggca	15	12	1	1			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chr22:50753343G>A	ENST00000413817.3	-	10	837	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	256					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AGCACAGGCCGGAAGCACCTG	0.682																																						ENST00000413817.2																			0											c.(766-768)Cgg>Tgg		DENN/MADD domain containing 6B							25	31	29					22																	50753343		2087	4191	6278	SO:0001583	missense	414918							g.chr22:50753343G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.766C>T	22.37:g.50753343G>A	ENSP00000391524:p.Arg256Trp					XX-C283C717.1_ENST00000453835.1_RNA	p.R256W	NM_001001794.3	NP_001001794.3					10	837	-								A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.766C>T	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405009	0.62288	.	.	ENSG00000205593	ENST00000413817	.	.	.	5.01	5.01	0.66863	DENN (1);	0.275157	0.37348	N	0.002134	T	0.52451	0.1735	N	0.20986	0.625	0.46609	D	0.999129	D;D	0.61697	0.99;0.99	P;P	0.54210	0.745;0.745	T	0.58216	-0.7675	9	0.66056	D	0.02	-16.6977	15.8062	0.78513	0.0:0.0:1.0:0.0	.	256;256	Q8NEG7;C9JIV6	F116B_HUMAN;.	W	256	.	ENSP00000391524:R256W	R	-	1	2	FAM116B	49095915	1.000000	0.71417	0.999000	0.59377	0.336000	0.28762	8.864000	0.92294	2.322000	0.78497	0.305000	0.20034	CGG		0.682	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		4	166	0	0	0	1	0	4	166					A	50753343	G	A	50753343	3	1	88	1	0	0	0	0	1	0	0	0	5429	1115	39	1	1035	1	FAM116B	22	50753343	Missense_Mutation	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	3563773	50753343	551223	196	33356											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	441	0	0	0	1	0	5	441					G	37028425	A	G	37028425	3	3	88	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IB-A6UF-01A-23D-A33T-08		37028425	118242135	197	33357											
KIAA2022	340533	broad.mit.edu	37	chrX	73960072	73960072	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttttgtgtgtcggtccGttattgcctaaagtgctcat	9	8	1	0			TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:73960072G>A	ENST00000055682.6	-	3	4931	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1440					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						GTGTCGGTCCGTTATTGCCTA	0.453																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(4318-4320)aaC>aaT		KIAA2022							208	172	184					X																	73960072		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960072G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4320C>T	X.37:g.73960072G>A						KIAA2022_ENST00000055682.5_Silent_p.N1440N	p.N1440N			Q5QGS0	K2022_HUMAN			3	4971	-			1440					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.4320C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	3.844	-0.033191	0.07543	.	.	ENSG00000050030	ENST00000424929	.	.	.	5.36	-7.06	0.01568	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64232	-0.6456	4	.	.	.	-17.3921	13.7648	0.62988	0.309:0.0916:0.5995:0.0	.	.	.	.	W	42	.	.	R	-	1	2	KIAA2022	73876797	0.008000	0.16893	0.938000	0.37757	0.996000	0.88848	-0.935000	0.03950	-1.139000	0.02881	0.544000	0.68410	CGG		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		183	135	0	0	0	1	0	183	135					A	73960072	G	A	73960072	2	1	88	1	0	0	0	0	0	0	0	1	8299	1136	40	1		1	KIAA2022	23	73960072	Silent	SNP	G	TCGA-IB-A6UF-01A-23D-A33T-08	36931647	73960072	81310488	198	33358											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		8	242						8	242	---	---	---	---	-	119694119	GAG	-	119694117	7	5	88	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-IB-A6UF-01A-23D-A33T-08	45734045	119694117	35576443	199	33359											
ELF4	2000	broad.mit.edu	37	chrX	129206325	129206326	+	Frame_Shift_Del	DEL	AA	AA	-													gcatcgggctcagaggcaggAaacaggtagttgggcagagt							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:129206325_129206326delAA	ENST00000308167.5	-	5	786_787	c.407_408delTT	c.(406-408)tttfs	p.F136fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.F136fs	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CAGAGGCAGGAAACAGGTAGTT	0.594			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(406-408)tfs		E74-like factor 4 (ets domain transcription factor)																																				SO:0001589	frameshift_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129206325_129206326delAA	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.407_408delTT	X.37:g.129206325_129206326delAA	ENSP00000311280:p.Phe136fs					ELF4_ENST00000335997.7_Frame_Shift_Del_p.F136fs	p.F136fs	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			5	786_787	-			136			RUNX1-binding.			Frame_Shift_Del	DEL	ENST00000308167.5	37	c.407_408delTT	CCDS14617.1																																																																																				0.594	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		222	171						222	171	---	---	---	---	-	129206326	AA	-	129206325	7	5	88	1	0	1	0	1	0	0	0	0	5074	243	9	0	1603	0	ELF4	23	129206325	Frame_Shift_Del	DEL	AA	TCGA-IB-A6UF-01A-23D-A33T-08	9512208	129206325	26064235	200	33360											
MAP7D3	79649	broad.mit.edu	37	chrX	135314194	135314194	+	Frame_Shift_Del	DEL	G	G	-													gaatacttccacattcacctGggggggtgcatccacacttg							TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:135314194delG	ENST00000316077.9	-	8	1142	c.922delC	c.(922-924)cagfs	p.Q308fs	MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACATTCACCTGGGGGGGTGCA	0.532																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(922-924)agfs		MAP7 domain containing 3							179	175	176					X																	135314194		2042	4171	6213	SO:0001589	frameshift_variant	79649					cytoplasm|spindle		g.chrX:135314194delG	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.922delC	X.37:g.135314194delG	ENSP00000318086:p.Gln308fs					MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs	p.Q308fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			8	1142	-	Acute lymphoblastic leukemia(192;0.000127)		308					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Frame_Shift_Del	DEL	ENST00000316077.9	37	c.922delC	CCDS44004.1																																																																																				0.532	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			9	733						9	733	---	---	---	---	-	135314194	G	-	135314194	7	5	88	1	0	1	0	1	0	0	0	0	9310	1357	47	0	1752	0	MAP7D3	23	135314194	Frame_Shift_Del	DEL	G	TCGA-IB-A6UF-01A-23D-A33T-08	6107869	135314194	19956366	201	33361											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-IB-A6UF-01A-23D-A33T-08	TCGA-IB-A6UF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d6b923f-0fd7-4174-b1e8-5dd4ffaa618c	b6896b2e-5d98-49fd-a3e7-f3e75306d1ee	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		11	672						11	672	---	---	---	---	-	149937528	GGC	-	149937526	7	5	88	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-IB-A6UF-01A-23D-A33T-08	14623332	149937526	5333034	202	33362											
NOC2L	26155	broad.mit.edu	37	chr1	889227	889227	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccagcacgctgatgtgccGcagcacggccgccaacaccg	11	18	0	1	rs370030288		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:889227G>A	ENST00000327044.6	-	8	872	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	275					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)		CTGATGTGCCGCAGCACGGCC	0.617																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(823-825)Cgg>Tgg		nucleolar complex associated 2 homolog (S. cerevisiae)		G	TRP/ARG	1,4405		0,1,2202	35	38	37		823	4.3	0.2	1		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOC2L	NM_015658.3	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	275/750	889227	2,13004	2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:889227G>A	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.823C>T	1.37:g.889227G>A	ENSP00000317992:p.Arg275Trp						p.R275W	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		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)	8	872	-	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)	275					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.823C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460554	0.43736	2.27E-4	1.16E-4	ENSG00000188976	ENST00000327044	T	0.24723	1.84	4.28	4.28	0.50868	Armadillo-type fold (1);	0.410909	0.25238	N	0.032113	T	0.22589	0.0545	L	0.33485	1.01	0.25940	N	0.982882	B;B;B	0.18863	0.031;0.014;0.031	B;B;B	0.16722	0.016;0.006;0.016	T	0.19910	-1.0291	10	0.59425	D	0.04	-17.7383	15.865	0.79057	0.0:0.0:1.0:0.0	.	275;275;42	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	W	275	ENSP00000317992:R275W	ENSP00000317992:R275W	R	-	1	2	NOC2L	879090	0.995000	0.38212	0.201000	0.23476	0.059000	0.15707	3.798000	0.55522	2.217000	0.71921	0.305000	0.20034	CGG		0.617	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		7	236	0	0	0	1	0	7	236					A	889227	G	A	889227	3	1	89	1	0	0	0	0	1	0	0	0	10555	1086	38	1	1474	1	NOC2L	1	889227	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		889227	248361394	1	33363											
TMEM52	339456	broad.mit.edu	37	chr1	1849752	1849752	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgactgccacgtcgcaggGctgccgtgctggtggcagat	16	11	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:1849752G>A	ENST00000310991.3	-	4	296	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	TMEM52_ENST00000378602.3_Missense_Mutation_p.P82S	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	97						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)		ACGTCGCAGGGCTGCCGTGCT	0.632																																						ENST00000378602.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(244-246)Ccc>Tcc		transmembrane protein 52							49	51	50					1																	1849752		2203	4299	6502	SO:0001583	missense	339456					integral to membrane		g.chr1:1849752G>A	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.289C>T	1.37:g.1849752G>A	ENSP00000311122:p.Pro97Ser					TMEM52_ENST00000310991.3_Missense_Mutation_p.P97S	p.P82S			Q8NDY8	TMM52_HUMAN		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)	1	484	-	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)	97					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.244C>T	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	13.04	2.117061	0.37339	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.56776	0.44;0.44	3.92	2.99	0.34606	.	0.000000	0.52532	D	0.000072	T	0.57710	0.2072	M	0.68317	2.08	0.29515	N	0.853898	B;P	0.50819	0.06;0.939	B;P	0.50934	0.046;0.654	T	0.59542	-0.7435	10	0.72032	D	0.01	-26.7541	9.9162	0.41436	0.1049:0.0:0.8951:0.0	.	97;82	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	S	82;97	ENSP00000367865:P82S;ENSP00000311122:P97S	ENSP00000311122:P97S	P	-	1	0	TMEM52	1839612	0.947000	0.32204	0.526000	0.27913	0.180000	0.23129	1.620000	0.36976	0.763000	0.33175	0.511000	0.50034	CCC		0.632	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		25	250	0	0	0	1	0	25	250					A	1849752	G	A	1849752	3	1	89	1	0	0	0	0	1	0	0	0	16230	1203	42	2	348	2	TMEM52	1	1849752	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	960525	1849752	247400869	2	33364											
NBPF3	84224	broad.mit.edu	37	chr1	21801427	21801427	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgagcaagaggaagaaaaAgggccagtgtctcccaggta	13	8	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:21801427A>G	ENST00000318249.5	+	8	1325	c.975A>G	c.(973-975)aaA>aaG	p.K325K	NBPF3_ENST00000318220.6_Silent_p.K269K|NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000454000.2_Silent_p.K255K	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	325	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				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)		AGGAAGAAAAAGGGCCAGTGT	0.398																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(805-807)aaA>aaG		neuroblastoma breakpoint family, member 3							195	217	209					1																	21801427		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21801427A>G	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.975A>G	1.37:g.21801427A>G						NBPF3_ENST00000454000.2_Silent_p.K255K|NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000318249.5_Silent_p.K325K	p.K269K			Q9H094	NBPF3_HUMAN		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)	11	1855	+		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)	325			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.807A>G	CCDS216.1																																																																																				0.398	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	603	0	0	0	1	0	5	603					G	21801427	A	G	21801427	2	3	89	1	0	0	0	0	0	0	0	1	10239	69	3	4		4	NBPF3	1	21801427	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	19951675	21801427	227449194	3	33365											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(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)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	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.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		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)	14	2118	+		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)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	166	0	0	0	1	0	6	166					G	21806573	A	G	21806573	3	3	89	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	5146	21806573	227444048	4	33366											
EPHA8	2046	broad.mit.edu	37	chr1	22903359	22903359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccggctacgaggagcggcGggatgcctgtgtgggtgagc	20	9	0	1	rs201689882	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:22903359G>A	ENST00000166244.3	+	3	881	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q|EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	270	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)		GAGGAGCGGCGGGATGCCTGT	0.677													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13700	0.0		0.001	False		,,,				2504	0.0					ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(808-810)cGg>cAg		EPH receptor A8							23	24	24					1																	22903359		2199	4296	6495	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903359G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.809G>A	1.37:g.22903359G>A	ENSP00000166244:p.Arg270Gln					EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q	p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	881	+		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)	270			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.809G>A	CCDS225.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.89	1.773458	0.31411	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97256	1.61;-4.31;-4.31	4.09	0.842	0.18927	.	0.145914	0.44097	N	0.000490	D	0.92120	0.7502	L	0.41236	1.265	0.37767	D	0.926539	B;B	0.22851	0.003;0.076	B;B	0.15870	0.004;0.014	D	0.85467	0.1170	10	0.45353	T	0.12	.	3.7537	0.08576	0.3071:0.0:0.5103:0.1826	.	270;270	P29322;P29322-2	EPHA8_HUMAN;.	Q	270	ENSP00000166244:R270Q;ENSP00000363775:R270Q;ENSP00000440274:R270Q	ENSP00000166244:R270Q	R	+	2	0	EPHA8	22775946	0.735000	0.28153	0.998000	0.56505	0.990000	0.78478	1.043000	0.30316	0.358000	0.24211	0.442000	0.29010	CGG		0.677	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		8	137	0	0	0	1	0	8	137					A	22903359	G	A	22903359	3	1	89	1	0	0	0	0	1	0	0	0	5191	1116	39	1	819	1	EPHA8	1	22903359	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1096786	22903359	226347262	5	33367											
GJA4	2701	broad.mit.edu	37	chr1	35260163	35260163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggagctgcgggcactgCcggccaaggacccacaggtg	18	12	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:35260163C>T	ENST00000342280.4	+	2	437	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	117					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCGGGCACTGCCGGCCAAGGA	0.667																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(349-351)Ccg>Tcg		gap junction protein, alpha 4, 37kDa							25	28	27					1																	35260163		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260163C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.349C>T	1.37:g.35260163C>T	ENSP00000343676:p.Pro117Ser						p.P117S	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	437	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	117					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.349C>T	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	2.482	-0.319516	0.05386	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.97232	-4.27;-4.3	5.11	4.2	0.49525	.	0.976137	0.08425	N	0.947757	D	0.93128	0.7812	L	0.29908	0.895	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.83316	-0.0020	10	0.13470	T	0.59	.	9.298	0.37827	0.0:0.7788:0.1446:0.0766	.	117;117	Q5JW71;P35212	.;CXA4_HUMAN	S	117	ENSP00000343676:P117S;ENSP00000409186:P117S	ENSP00000343676:P117S	P	+	1	0	GJA4	35032750	0.958000	0.32768	0.903000	0.35520	0.138000	0.21146	1.218000	0.32467	1.146000	0.42352	0.563000	0.77884	CCG		0.667	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		4	214	0	0	0	1	0	4	214					T	35260163	C	T	35260163	3	4	89	1	0	0	0	0	1	0	0	0	6432	739	26	2	351	2	GJA4	1	35260163	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12356804	35260163	213990458	6	33368											
PTPRF	5792	broad.mit.edu	37	chr1	44069169	44069169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccaagggggatggtgcccGcagcaagcccaaaattgtca	12	12	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44069169G>A	ENST00000359947.4	+	15	2763	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R799H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	808	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGGTGCCCGCAGCAAGCCC	0.632																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(2422-2424)cGc>cAc		protein tyrosine phosphatase, receptor type, F							88	86	87					1																	44069169		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069169G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2423G>A	1.37:g.44069169G>A	ENSP00000353030:p.Arg808His					PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R799H	p.R808H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			15	2763	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	808			Fibronectin type-III 5.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.2423G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.895738|3.895738	0.72639|0.72639	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.54279	.|2.28;0.58;2.28;0.58;0.58;0.59	4.79|4.79	4.79|4.79	0.61399|0.61399	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.31660	.|N	.|0.007279	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D	.|0.89917	.|1.0;1.0;0.88;1.0;1.0	.|D;D;B;D;D	.|0.97110	.|0.999;0.986;0.288;0.995;1.0	T|T	0.73007|0.73007	-0.4118|-0.4118	5|10	.|0.30854	.|T	.|0.27	.|.	18.2203|18.2203	0.89899|0.89899	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|455;156;567;799;808	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	456|808;799;808;799;156;62	.|ENSP00000353030:R808H;ENSP00000398822:R799H;ENSP00000361491:R808H;ENSP00000361490:R799H;ENSP00000387885:R156H;ENSP00000361484:R62H	.|ENSP00000353030:R808H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43841756|43841756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.456000|7.456000	0.80751|0.80751	2.387000|2.387000	0.81309|0.81309	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			6	449	0	0	0	1	0	6	449					A	44069169	G	A	44069169	3	1	89	1	0	0	0	0	1	0	0	0	12851	1087	38	1	2473	1	PTPRF	1	44069169	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8809006	44069169	205181452	7	33369											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	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.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	610						8	610	---	---	---	---	-	44071948	GCG	-	44071946	7	5	89	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-A6UG-01A-32D-A33T-08	2777	44071946	205178675	8	33370											
DEPDC1	55635	broad.mit.edu	37	chr1	68947194	68947194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcattcgggaaatcatacGcattaaaagttgaagctttc	7	8	2	1	rs200248484		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:68947194G>A	ENST00000456315.2	-	9	1978	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R338C|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	622	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAAATCATACGCATTAAAAGT	0.398																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1864-1866)Cgt>Tgt		DEP domain containing 1							80	76	77					1																	68947194		2203	4299	6502	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947194G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1864C>T	1.37:g.68947194G>A	ENSP00000412292:p.Arg622Cys					DEPDC1_ENST00000370966.5_Missense_Mutation_p.R338C|RP4-694A7.2_ENST00000425820.1_RNA	p.R622C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	9	1978	-			622			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1864C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635313	0.47049	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.86627	-2.15;-2.15	5.72	4.78	0.61160	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	M	0.83483	2.645	0.44539	D	0.997495	P;D	0.89917	0.793;1.0	B;D	0.87578	0.181;0.998	D	0.93210	0.6599	10	0.72032	D	0.01	-2.5002	15.1757	0.72910	0.0:0.0:0.7481:0.2519	.	622;338	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	622;338	ENSP00000412292:R622C;ENSP00000360005:R338C	ENSP00000360005:R338C	R	-	1	0	DEPDC1	68719782	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.266000	0.51569	2.691000	0.91804	0.655000	0.94253	CGT		0.398	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		10	124	0	0	0	1	0	10	124					A	68947194	G	A	68947194	3	1	89	1	0	0	0	0	1	0	0	0	4455	1087	38	1	587	1	DEPDC1	1	68947194	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	24875248	68947194	180303427	9	33371											
NBPF15	284565	broad.mit.edu	37	chr1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A													tggaagtggaagagcctgaaGtcttacaggactcactggat							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:148594434G>A	ENST00000369187.3	+	19	2296	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000442702.2_Missense_Mutation_p.V603I	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1807-1809)Gtc>Atc		neuroblastoma breakpoint family, member 15																																				SO:0001583	missense	284565					cytoplasm		g.chr1:148594434G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1807G>A	1.37:g.148594434G>A	ENSP00000358188:p.Val603Ile					NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2874	+	all_hematologic(923;0.032)		603			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1807G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259285	0.23051	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.15372	2.43;2.43	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.27098	0.0664	M	0.84683	2.71	0.09310	N	1	D	0.57257	0.979	D	0.75484	0.986	T	0.02539	-1.1144	8	0.56958	D	0.05	.	.	.	.	.	603	Q8N660	NBPFF_HUMAN	I	603	ENSP00000416864:V603I;ENSP00000358188:V603I	ENSP00000358188:V603I	V	+	1	0	NBPF15	146861058	0.951000	0.32395	0.009000	0.14445	0.006000	0.05464	0.894000	0.28350	0.557000	0.29117	0.377000	0.23210	GTC		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		8	1530	0	0	0	1	0	8	1530					A	148594434	G	A	148594434	3	1	89	1	0	0	0	0	1	0	0	0	10237	1029	36	2	1865	2	NBPF15	1	148594434	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	79647240	148594434	100656187	10	33372	215	2									
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G													gtggaagagcctgaagtcttAcaggactcactggatagatg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		9	1561	0	0	0	1	0	9	1561					G	148594439	A	G	148594439	2	3	89	1	0	0	0	0	0	0	0	1	10237	388	14	4		4	NBPF15	1	148594439	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	5	148594439	100656182	11	33373	215	2									
RPTN	126638	broad.mit.edu	37	chr1	152128709	152128712	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cgtagtgggaactctggcctTgtctgtctgtctgaccacag							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:152128709_152128712delTGTC	ENST00000316073.3	-	3	927_930	c.863_866delGACA	c.(862-867)agacaafs	p.RQ288fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	288	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.49																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(862-867)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128709_152128712delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.863_866delGACA	1.37:g.152128717_152128720delTGTC	ENSP00000317895:p.Arg288fs						p.RQ288fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	927_930	-			288			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.863_866delGACA	CCDS41397.1																																																																																				0.49	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1625						8	1625	---	---	---	---	-	152128712	TGTC	-	152128709	7	5	89	1	0	1	0	1	0	0	0	0	13714	1812	63	0	1492	0	RPTN	1	152128709	Frame_Shift_Del	DEL	TGTC	TCGA-IB-A6UG-01A-32D-A33T-08	3534270	152128709	97121912	12	33374											
SLC27A3	11000	broad.mit.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-													tggcagccctagttctgcgtCccccccacgctttggacctt					rs572408453	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:153751860delC	ENST00000368661.3	+	9	1992	c.1927delC	c.(1927-1929)cccfs	p.P644fs	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Frame_Shift_Del_p.P725fs	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	644					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)			AGTTCTGCGTCCCCCCCACGC	0.617													|||unknown(LONG_INSERTION)	4	0.000798722	0.0	0.0043	5008	,	,		17653	0.001		0.0	False		,,,				2504	0.0					ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(2170-2172)ccfs		solute carrier family 27 (fatty acid transporter), member 3				8,16,4240		0,0,8,7,2,2115	121	105	111			-6	1	1		111	5,23,8226		0,0,5,10,3,4109	no	codingComplex	SLC27A3	NM_024330.1		0,0,13,17,5,6224	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3392,0.5629,0.4154			153751860	13,39,12466	2203	4300	6503	SO:0001589	frameshift_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153751860delC	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.1927delC	1.37:g.153751860delC	ENSP00000357650:p.Pro644fs					SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.P644fs|SLC27A3_ENST00000484014.1_3'UTR	p.P725fs			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	2930	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		644					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Del	DEL	ENST00000368661.3	37	c.2170delC	CCDS1053.1																																																																																				0.617	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		7	735						7	735	---	---	---	---	-	153751860	C	-	153751860	7	5	89	1	0	1	0	1	0	0	0	0	14577	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-IB-A6UG-01A-32D-A33T-08	1623151	153751860	95498761	13	33375											
CHRNB2	1141	broad.mit.edu	37	chr1	154543680	154543680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtgctgacggcatgtaCgaggtgtccttctattccaa	12	10	1	1	rs201024705		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:154543680C>T	ENST00000368476.3	+	5	645	c.381C>T	c.(379-381)taC>taT	p.Y127Y		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	127					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)	ACGGCATGTACGAGGTGTCCT	0.552																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(379-381)taC>taT		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						142	130	134					1																	154543680		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154543680C>T	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.381C>T	1.37:g.154543680C>T							p.Y127Y	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	645	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		127					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.381C>T	CCDS1070.1																																																																																				0.552	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		274	485	0	0	0	1	0	274	485					T	154543680	C	T	154543680	2	4	89	1	0	0	0	0	0	0	0	1	3400	547	19	1		1	CHRNB2	1	154543680	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	791820	154543680	94706941	14	33376											
NME7	29922	broad.mit.edu	37	chr1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaaatttagcagtgtttgCcggcccacaacctccacttg	8	12	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.A195T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					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)	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358																																						ENST00000367811.3																			1	Substitution - Missense(1)	p.A231T(1)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(691-693)Gca>Aca		NME/NM23 family member 7							220	216	217					1																	169256604		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256604C>T	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.691G>A	1.37:g.169256604C>T	ENSP00000356785:p.Ala231Thr					NME7_ENST00000472647.1_Missense_Mutation_p.A195T|NME7_ENST00000469474.1_5'UTR	p.A231T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			7	947	-	all_hematologic(923;0.208)		231					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.691G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		7	1117	0	0	0	1	0	7	1117					T	169256604	C	T	169256604	3	4	89	1	0	0	0	0	1	0	0	0	10538	739	26	2	463	2	NME7	1	169256604	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	14712924	169256604	79994017	15	33377											
TNR	7143	broad.mit.edu	37	chr1	175292513	175292513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagaactgtaaggactgccGttttctccctgccatgagac	9	12	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:175292513G>A	ENST00000367674.2	-	23	4765	c.4057C>T	c.(4057-4059)Cgg>Tgg	p.R1353W	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1353W			Q92752	TENR_HUMAN	tenascin R	1353					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)					AAGGACTGCCGTTTTCTCCCT	0.478																																						ENST00000367674.1																			0				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						c.(4057-4059)Cgg>Tgg		tenascin R							153	138	143					1																	175292513		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175292513G>A	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.4057C>T	1.37:g.175292513G>A	ENSP00000356646:p.Arg1353Trp					RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1353W	p.R1353W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			23	4765	-	Renal(580;0.146)		1353					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.4057C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.823924	0.50739	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.29142	1.58;1.58	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.47716	1.5	0.53005	D	0.99996	D	0.89917	1.0	D	0.63283	0.913	T	0.40213	-0.9575	10	0.87932	D	0	.	13.652	0.62316	0.0:0.0:0.8451:0.1549	.	1353	Q92752	TENR_HUMAN	W	1353;1353;1263	ENSP00000356646:R1353W;ENSP00000263525:R1353W	ENSP00000263525:R1353W	R	-	1	2	TNR	173559136	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.266000	0.51569	2.513000	0.84729	0.561000	0.74099	CGG		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		50	555	0	0	0	1	0	50	555					A	175292513	G	A	175292513	3	1	89	1	0	0	0	0	1	0	0	0	16390	1144	40	1	23	1	TNR	1	175292513	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	6035909	175292513	73958108	16	33378											
RASAL2	9462	broad.mit.edu	37	chr1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A													acaaggatgtggaaaaaaagINSaaaaaaaaggacaagaataa							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:178412040_178412041insA	ENST00000462775.1	+	6	839_840	c.714_715insA	c.(715-717)aaafs	p.K239fs	RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.K387fs|RASAL2_ENST00000448150.3_Frame_Shift_Ins_p.K369fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	239	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1107)aaaaaafs		RAS protein activator like 2																																				SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178412040_178412041insA	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.722dupA	1.37:g.178412048_178412048dupA	ENSP00000420558:p.Lys239fs					RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs|RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs	p.KK368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			8	1922_1923	+			238			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Ins	INS	ENST00000462775.1	37	c.1104_1105insA	CCDS1322.1																																																																																				0.406	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		7	539						7	539	---	---	---	---	A	178412041	-	A	178412040	7	5	89	1	0	1	1	0	0	0	0	0	13114	933	33	0	1205	0	RASAL2	1	178412040	Frame_Shift_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	3119527	178412040	70838581	17	33379											
PRG4	10216	broad.mit.edu	37	chr1	186276168	186276168	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCcccaagaagcctgccccaac	7	20	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	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						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1315-1317)acC>acT		proteoglycan 4							77	84	82					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367483.4_Silent_p.T398T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	682	0	0	0	1	0	8	682					T	186276168	C	T	186276168	2	4	89	1	0	0	0	0	0	0	0	1	12528	610	22	2		2	PRG4	1	186276168	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	7864128	186276168	62974453	18	33380											
LAX1	54900	broad.mit.edu	37	chr1	203739994	203739994	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caacatcttttccgggtttgCgggactcctcgccatcctcc	8	16	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:203739994C>T	ENST00000442561.2	+	2	518	c.128C>T	c.(127-129)gCg>gTg	p.A43V	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A27V	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	43					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)	p.A43V(1)		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)			TCCGGGTTTGCGGGACTCCTC	0.483																																						ENST00000442561.2																			1	Substitution - Missense(1)	p.A43V(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(127-129)gCg>gTg		lymphocyte transmembrane adaptor 1							159	150	153					1																	203739994		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203739994C>T	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.128C>T	1.37:g.203739994C>T	ENSP00000406970:p.Ala43Val					LAX1_ENST00000367217.5_Missense_Mutation_p.A27V|LAX1_ENST00000367215.1_3'UTR	p.A43V	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	518	+	all_cancers(21;0.0915)		43					B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.128C>T	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	5.080	0.200425	0.09652	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.38	1.43	0.22495	.	0.327636	0.26007	N	0.026914	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B;B	0.33379	0.41;0.201	B;B	0.28139	0.086;0.055	T	0.18147	-1.0346	9	0.17832	T	0.49	-3.1747	7.1389	0.25543	0.0:0.6291:0.0:0.3709	.	27;43	B7Z744;Q8IWV1	.;LAX1_HUMAN	V	43;27	.	ENSP00000356186:A27V	A	+	2	0	LAX1	202006617	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.145000	0.16157	0.013000	0.14918	-0.254000	0.11334	GCG		0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		6	607	0	0	0	1	0	6	607					T	203739994	C	T	203739994	3	4	89	1	0	0	0	0	1	0	0	0	8679	768	27	1	179	1	LAX1	1	203739994	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	17463826	203739994	45510627	19	33381											
SUSD4	55061	broad.mit.edu	37	chr1	223465929	223465929	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagaaaacccctccGctgggggtcctgaagccatt	9	14	1	2	rs148470082	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:223465929G>A	ENST00000343846.3	-	2	846	c.213C>T	c.(211-213)agC>agT	p.S71S	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.S71S|SUSD4_ENST00000366878.4_Silent_p.S71S|SUSD4_ENST00000494793.2_Silent_p.S71S|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	71	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)		AAACCCCTCCGCTGGGGGTCC	0.498													G|||	9	0.00179712	0.0	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0092					ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(211-213)agC>agT		sushi domain containing 4		G	,	0,4406		0,0,2203	63	73	70		213,213	-6.6	0	1	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SUSD4	NM_001037175.2,NM_017982.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	71/291,71/491	223465929	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223465929G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.213C>T	1.37:g.223465929G>A						SUSD4_ENST00000344029.6_Silent_p.S71S|SUSD4_ENST00000366878.4_Silent_p.S71S|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR	p.S71S			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	846	-			71			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.213C>T	CCDS41471.1																																																																																				0.498	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		43	464	0	0	0	1	0	43	464					A	223465929	G	A	223465929	2	1	89	1	0	0	0	0	0	0	0	1	15462	1078	38	1		1	SUSD4	1	223465929	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	19725935	223465929	25784692	20	33382											
TRIM58	25893	broad.mit.edu	37	chr1	248028136	248028136	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgacgctgcagagactgCgggagagcaagagccggctg	18	10	0	3	rs28361506		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:248028136C>T	ENST00000366481.3	+	3	694	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	216						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)			GCAGAGACTGCGGGAGAGCAA	0.662																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(646-648)Cgg>Tgg		tripartite motif containing 58		C	TRP/ARG	0,4406		0,0,2203	27	29	29		646	3.4	0.2	1	dbSNP_125	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRIM58	NM_015431.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	216/487	248028136	1,13005	2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028136C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.646C>T	1.37:g.248028136C>T	ENSP00000355437:p.Arg216Trp						p.R216W	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	694	+	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)	216					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.646C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151754	0.38021	0.0	1.16E-4	ENSG00000162722	ENST00000366481	T	0.05382	3.45	4.35	3.36	0.38483	.	0.131051	0.33217	N	0.005145	T	0.21347	0.0514	M	0.86268	2.805	0.30934	N	0.726538	D	0.76494	0.999	P	0.61477	0.889	T	0.04153	-1.0973	10	0.72032	D	0.01	.	9.2175	0.37355	0.3172:0.6828:0.0:0.0	.	216	Q8NG06	TRI58_HUMAN	W	216	ENSP00000355437:R216W	ENSP00000355437:R216W	R	+	1	2	TRIM58	246094759	0.000000	0.05858	0.198000	0.23420	0.077000	0.17291	-0.204000	0.09425	2.413000	0.81919	0.655000	0.94253	CGG		0.662	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		20	150	0	0	0	1	0	20	150					T	248028136	C	T	248028136	3	4	89	1	0	0	0	0	1	0	0	0	16584	759	27	1	656	1	TRIM58	1	248028136	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	24562207	248028136	1222485	21	33383											
POMC	5443	broad.mit.edu	37	chr2	25384428	25384428	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggccgcagtcttcgcccGctgagacgtcctcgcgcttc	13	17	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:25384428G>A	ENST00000405623.1	-	3	781	c.326C>T	c.(325-327)gCg>gTg	p.A109V	POMC_ENST00000380794.1_Missense_Mutation_p.A109V|POMC_ENST00000395826.2_Missense_Mutation_p.A109V|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_Missense_Mutation_p.A109V			P01189	COLI_HUMAN	proopiomelanocortin	109					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)	GTCTTCGCCCGCTGAGACGTC	0.721																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(325-327)gCg>gTg		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						5	6	6					2																	25384428		2048	3950	5998	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384428G>A		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.326C>T	2.37:g.25384428G>A	ENSP00000384092:p.Ala109Val					POMC_ENST00000380794.1_Missense_Mutation_p.A109V|POMC_ENST00000395826.2_Missense_Mutation_p.A109V|POMC_ENST00000264708.3_Missense_Mutation_p.A109V	p.A109V			P01189	COLI_HUMAN			3	781	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		109					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.326C>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500039	0.12762	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79554	-1.27;-1.27;-1.27;-1.27;-1.28	4.67	-2.23	0.06930	.	0.794205	0.10616	N	0.653875	T	0.50633	0.1627	N	0.03050	-0.425	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.37361	-0.9709	10	0.39692	T	0.17	-10.6454	1.6553	0.02780	0.3084:0.2269:0.3493:0.1154	.	109	P01189	COLI_HUMAN	V	109	ENSP00000370171:A109V;ENSP00000384092:A109V;ENSP00000264708:A109V;ENSP00000379170:A109V;ENSP00000387993:A109V	ENSP00000264708:A109V	A	-	2	0	POMC	25237932	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.224000	0.17738	-0.089000	0.12484	0.462000	0.41574	GCG		0.721	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		9	50	0	0	0	1	0	9	50					A	25384428	G	A	25384428	3	1	89	1	0	0	0	0	1	0	0	0	12284	1087	38	1	481	1	POMC	2	25384428	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		25384428	217814945	22	33384											
TCF23	150921	broad.mit.edu	37	chr2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatagcccacctcacccGcacactcggccacgagttgc	7	19	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(388-390)cGc>cAc		transcription factor 23							103	111	108					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	519	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		9	1084	0	0	0	1	0	9	1084					A	27373157	G	A	27373157	3	1	89	1	0	0	0	0	1	0	0	0	15744	1087	38	1	395	1	TCF23	2	27373157	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1988729	27373157	215826216	23	33385											
BCL11A	53335	broad.mit.edu	37	chr2	60689253	60689254	+	Frame_Shift_Ins	INS	-	-	G													tctcggtggtggactaaacaINSgggggggagtgggtggaaag							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:60689253_60689254insG	ENST00000335712.6	-	4	1020_1021	c.793_794insC	c.(793-795)ctgfs	p.L265fs	BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.L231fs|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.L265fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.L231fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	265	Pro-rich.				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)			TGGACTAAACAGGGGGGGAGTG	0.584			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(793-795)gttfs		B-cell CLL/lymphoma 11A (zinc finger protein)																																				SO:0001589	frameshift_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689253_60689254insG	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.794dupC	2.37:g.60689260_60689260dupG	ENSP00000338774:p.Leu265fs					BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs	p.V265fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1020_1021	-			265			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Frame_Shift_Ins	INS	ENST00000335712.6	37	c.793_794insC	CCDS1862.1																																																																																				0.584	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		7	346						7	346	---	---	---	---	G	60689254	-	G	60689253	7	5	89	1	0	1	1	0	0	0	0	0	1364	188	7	0	1823	0	BCL11A	2	60689253	Frame_Shift_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	33316096	60689253	182510120	24	33386											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-													gtggaaatgtactctgggagTgatgatgatgatgattttaa							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				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						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				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						c.(409-414)agt>ag		eukaryotic translation initiation factor 5B																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	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.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.SD137del	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	613_615	+			137					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		8	467						8	467	---	---	---	---	-	99977777	TGA	-	99977775	7	5	89	1	0	1	0	1	0	0	0	0	5062	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-IB-A6UG-01A-32D-A33T-08	39288522	99977775	143221598	25	33387											
MERTK	10461	broad.mit.edu	37	chr2	112785977	112785977	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgatcccttagaccgccccAccttttcagtattgaggctg	8	15	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:112785977A>G	ENST00000295408.4	+	19	2793	c.2536A>G	c.(2536-2538)Acc>Gcc	p.T846A	MERTK_ENST00000409780.1_Missense_Mutation_p.T670A|MERTK_ENST00000421804.2_Missense_Mutation_p.T846A			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	846	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						AGACCGCCCCACCTTTTCAGT	0.443																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2536-2538)Acc>Gcc		c-mer proto-oncogene tyrosine kinase							64	71	68					2																	112785977		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112785977A>G	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.2536A>G	2.37:g.112785977A>G	ENSP00000295408:p.Thr846Ala					MERTK_ENST00000409780.1_Missense_Mutation_p.T670A|MERTK_ENST00000421804.2_Missense_Mutation_p.T846A	p.T846A			Q12866	MERTK_HUMAN			19	2793	+			846			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2536A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634279	0.29068	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.75	1.76	0.24704	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.494897	0.14911	U	0.291237	T	0.60932	0.2307	M	0.64676	1.99	0.18873	N	0.999985	B	0.20988	0.05	B	0.25614	0.062	T	0.55617	-0.8113	10	0.62326	D	0.03	-7.7489	6.9481	0.24530	0.4709:0.126:0.0:0.4031	.	846	Q12866	MERTK_HUMAN	A	846;846;505;670;170	ENSP00000295408:T846A;ENSP00000389152:T846A;ENSP00000387277:T670A;ENSP00000412660:T170A	ENSP00000295408:T846A	T	+	1	0	MERTK	112502448	0.001000	0.12720	0.045000	0.18777	0.584000	0.36387	0.722000	0.25925	0.040000	0.15660	0.533000	0.62120	ACC		0.443	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			33	351	0	0	0	1	0	33	351					G	112785977	A	G	112785977	3	3	89	1	0	0	0	0	1	0	0	0	9520	159	6	4	2610	4	MERTK	2	112785977	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	12808202	112785977	130413396	26	33388											
MKI67IP	84365	broad.mit.edu	37	chr2	122485323	122485323	+	Frame_Shift_Del	DEL	T	T	-													ctgattgctgcttcttcgtcTttttttccgtgaatgtgtag							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:122485323delT	ENST00000285814.4	-	7	931	c.859delA	c.(859-861)agafs	p.R289fs	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		289					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						CTTCTTCGTCTTTTTTTCCGT	0.303																																						ENST00000285814.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(859-861)gafs									126	124	125					2																	122485323		2203	4300	6503	SO:0001589	frameshift_variant	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485323delT																												ENST00000285814.4:c.859delA	2.37:g.122485323delT	ENSP00000285814:p.Arg289fs					AC018737.1_ENST00000419902.1_RNA	p.R289fs	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			7	931	-			289					A8K788|Q8TB66|Q96ED4	Frame_Shift_Del	DEL	ENST00000285814.4	37	c.859delA	CCDS2135.1																																																																																				0.303	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			7	574						7	574	---	---	---	---	-	122485323	T	-	122485323	7	5	89	1	0	1	0	1	0	0	0	0	9640	1617	56	0	26	0	MKI67IP	2	122485323	Frame_Shift_Del	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	9699346	122485323	120714050	27	33389											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				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)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				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						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	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.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		8	281						8	281	---	---	---	---	-	128046946	TCT	-	128046944	7	5	89	1	0	1	0	1	0	0	0	0	5232	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-IB-A6UG-01A-32D-A33T-08	5561621	128046944	115152429	28	33390											
SCN3A	6328	broad.mit.edu	37	chr2	166018859	166018859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagtaaagggtctttttgCccatccaaaacataaaagtg	8	8	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166018859C>T	ENST00000360093.3	-	9	1481	c.990G>A	c.(988-990)ggG>ggA	p.G330G	SCN3A_ENST00000283254.7_Silent_p.G330G|SCN3A_ENST00000409101.3_Silent_p.G330G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	330					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)	GGTCTTTTTGCCCATCCAAAA	0.294																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(988-990)ggG>ggA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						85	103	97					2																	166018859		2201	4299	6500	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166018859C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.990G>A	2.37:g.166018859C>T						SCN3A_ENST00000283254.7_Silent_p.G330G|SCN3A_ENST00000409101.3_Silent_p.G330G	p.G330G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			9	1481	-			330					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.990G>A																																																																																					0.294	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	809	0	0	0	1	0	6	809					T	166018859	C	T	166018859	2	4	89	1	0	0	0	0	0	0	0	1	13968	726	26	2		2	SCN3A	2	166018859	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	37971915	166018859	77180514	29	33391											
SCN2A	6326	broad.mit.edu	37	chr2	166245632	166245632	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gttgtggtgaacatgtacatCgcggtcatcctggagaactt	12	8	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166245632C>T	ENST00000375437.2	+	27	5606	c.5316C>T	c.(5314-5316)atC>atT	p.I1772I	SCN2A_ENST00000375427.2_Silent_p.I1772I|SCN2A_ENST00000357398.3_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1772					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)	ACATGTACATCGCGGTCATCC	0.443																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5314-5316)atC>atT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						101	102	101					2																	166245632		2202	4281	6483	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245632C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5316C>T	2.37:g.166245632C>T						SCN2A_ENST00000375427.2_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I|SCN2A_ENST00000357398.3_Silent_p.I1772I	p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			27	5606	+			1772					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.5316C>T	CCDS33314.1																																																																																				0.443	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		113	441	0	0	0	1	0	113	441					T	166245632	C	T	166245632	2	4	89	1	0	0	0	0	0	0	0	1	13966	874	31	1		1	SCN2A	2	166245632	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	226773	166245632	76953741	30	33392											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	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						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	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.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		8	266						8	266	---	---	---	---	T	175213713	-	T	175213712	7	5	89	1	0	1	1	0	0	0	0	0	3441	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	8968080	175213712	67985661	31	33393											
HECW2	57520	broad.mit.edu	37	chr2	197135945	197135945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgattcctggtaagatcagGttgacgctcctgtagaattt	11	7	1	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197135945G>A	ENST00000260983.3	-	17	3489	c.3307C>T	c.(3307-3309)Cct>Tct	p.P1103S	HECW2_ENST00000409111.1_Missense_Mutation_p.P747S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1103					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						GTAAGATCAGGTTGACGCTCC	0.328																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3307-3309)Cct>Tct		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							86	83	84					2																	197135945		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197135945G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3307C>T	2.37:g.197135945G>A	ENSP00000260983:p.Pro1103Ser					HECW2_ENST00000409111.1_Missense_Mutation_p.P747S	p.P1103S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			17	3489	-			1103					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3307C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186065	0.78789	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84660	-1.88;-1.88	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	P	0.49140	0.601	T	0.82764	-0.0296	10	0.22706	T	0.39	.	19.8791	0.96888	0.0:0.0:1.0:0.0	.	1103	Q9P2P5	HECW2_HUMAN	S	747;1103	ENSP00000386775:P747S;ENSP00000260983:P1103S	ENSP00000260983:P1103S	P	-	1	0	HECW2	196844190	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.821000	0.99360	2.706000	0.92434	0.467000	0.42956	CCT		0.328	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		20	186	0	0	0	1	0	20	186					A	197135945	G	A	197135945	3	1	89	1	0	0	0	0	1	0	0	0	7073	1261	44	2	1463	2	HECW2	2	197135945	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	21922233	197135945	46063428	32	33394											
NRP2	8828	broad.mit.edu	37	chr2	206628415	206628415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatgacaggaatttcttgCggctgcagagtgacagccag	13	9	1	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:206628415C>T	ENST00000357785.5	+	13	2093	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	NRP2_ENST00000357118.4_Missense_Mutation_p.R688W|NRP2_ENST00000412873.2_Missense_Mutation_p.R688W|NRP2_ENST00000540178.1_Missense_Mutation_p.R688W|NRP2_ENST00000540841.1_Missense_Mutation_p.R688W|NRP2_ENST00000272849.3_Missense_Mutation_p.R688W|NRP2_ENST00000360409.3_Missense_Mutation_p.R688W|AC007362.3_ENST00000596616.1_RNA|AC007362.3_ENST00000423425.1_RNA|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 2. {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						GAATTTCTTGCGGCTGCAGAG	0.572											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2062-2064)Cgg>Tgg		neuropilin 2							88	98	94					2																	206628415		2201	4298	6499	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206628415C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2062C>T	2.37:g.206628415C>T	ENSP00000350432:p.Arg688Trp		OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000272849.3_Missense_Mutation_p.R688W|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000357785.5_Missense_Mutation_p.R688W|NRP2_ENST00000540841.1_Missense_Mutation_p.R688W|NRP2_ENST00000357118.4_Missense_Mutation_p.R688W|NRP2_ENST00000540178.1_Missense_Mutation_p.R688W|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000412873.2_Missense_Mutation_p.R688W	p.R688W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			13	2853	+			688			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2062C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579387	0.65878	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51;4.51;4.51	5.82	0.939	0.19506	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.502966	0.22269	N	0.062283	T	0.05686	0.0149	L	0.47716	1.5	0.80722	D	1	P;D;D;D;D	0.65815	0.746;0.97;0.995;0.988;0.98	B;B;P;P;P	0.52856	0.376;0.376;0.636;0.711;0.711	T	0.23511	-1.0186	10	0.72032	D	0.01	-11.5172	16.6493	0.85185	0.6569:0.3431:0.0:0.0	.	688;688;688;688;688	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	W	688	ENSP00000353582:R688W;ENSP00000439658:R688W;ENSP00000439261:R688W;ENSP00000349632:R688W;ENSP00000350432:R688W;ENSP00000407626:R688W;ENSP00000272849:R688W	ENSP00000272849:R688W	R	+	1	2	NRP2	206336660	0.989000	0.36119	0.998000	0.56505	0.927000	0.56198	-0.006000	0.12833	0.214000	0.20742	0.561000	0.74099	CGG		0.572	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			5	681	0	0	0	1	0	5	681					T	206628415	C	T	206628415	3	4	89	1	0	0	0	0	1	0	0	0	10703	759	27	1	2139	1	NRP2	2	206628415	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	9492470	206628415	36570958	33	33395											
CREB1	1385	broad.mit.edu	37	chr2	208461780	208461780	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttactgccacaaatcagatTaatttgggatttaaattttc	5	6	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:208461780T>G	ENST00000432329.2	+	9	1275	c.1024T>G	c.(1024-1026)Taa>Gaa	p.*342E	CREB1_ENST00000430624.1_Nonstop_Mutation_p.*328E|CREB1_ENST00000374397.4_Nonstop_Mutation_p.*231E|METTL21A_ENST00000432416.1_Intron|CREB1_ENST00000353267.3_Nonstop_Mutation_p.*328E|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	0					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	CAAATCAGATTAATTTGGGAT	0.338			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"																																	ENST00000432329.2				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		"clear cell sarcoma, angiomatoid fibrous histiocytoma"	EWSR1/CREB1(44)	0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5						c.(1024-1026)Taa>Gaa		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						77	81	80					2																	208461780		2203	4300	6503	SO:0001578	stop_lost	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity	g.chr2:208461780T>G	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"basic leucine zipper proteins"	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.1024T>G	2.37:g.208461780T>G	ENSP00000387699:p.*342Gluext*4					CREB1_ENST00000374397.4_Nonstop_Mutation_p.*231E|CREB1_ENST00000353267.3_Nonstop_Mutation_p.*328E|METTL21A_ENST00000458426.1_Intron|CREB1_ENST00000430624.1_Nonstop_Mutation_p.*328E|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron	p.*342E	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	9	1275	+			0					P21934|Q6V963|Q9UMA7	Nonstop_Mutation	SNP	ENST00000432329.2	37	c.1024T>G	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004439	0.54254	.	.	ENSG00000118260	ENST00000430624;ENST00000236996;ENST00000432329;ENST00000353267;ENST00000374397	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6539	0.77118	0.0:0.0:0.0:1.0	.	.	.	.	E	328;52;342;328;231	.	.	X	+	1	0	CREB1	208170025	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.997000	0.88414	2.296000	0.77279	0.482000	0.46254	TAA		0.338	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		58	235	0	0	0	1	0	58	235					G	208461780	T	G	208461780	4	3	89	1	0	0	0	0	0	0	0	0	3863	1767	61	4	1054	4	CREB1	2	208461780	Nonstop_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	1833365	208461780	34737593	34	33396											
CCDC108	255101	broad.mit.edu	37	chr2	219870881	219870881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacacctcctcctttGgggtctgcagtttccagctg	11	14	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219870881G>T	ENST00000341552.5	-	31	4867	c.4784C>A	c.(4783-4785)cCa>cAa	p.P1595Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1595Q|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1595Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1595						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)		CTCCTCCTTTGGGGTCTGCAG	0.622																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4783-4785)cCa>cAa		coiled-coil domain containing 108							56	64	61					2																	219870881		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219870881G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4784C>A	2.37:g.219870881G>T	ENSP00000340776:p.Pro1595Gln					CCDC108_ENST00000453220.1_Missense_Mutation_p.P1595Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1595Q|AC097468.4_ENST00000441450.1_RNA	p.P1595Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4867	-		Renal(207;0.0915)	1595					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4784C>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431430	0.12045	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04917	3.53;3.53;3.53	5.56	3.73	0.42828	.	1.183400	0.06364	N	0.712220	T	0.08223	0.0205	L	0.48642	1.525	0.09310	N	1	B	0.19935	0.04	B	0.17979	0.02	T	0.42310	-0.9459	10	0.30854	T	0.27	0.573	8.21	0.31478	0.0809:0.3029:0.6162:0.0	.	1595	Q6ZU64	CC108_HUMAN	Q	1595	ENSP00000340776:P1595Q;ENSP00000413377:P1595Q;ENSP00000409117:P1595Q	ENSP00000340776:P1595Q	P	-	2	0	CCDC108	219579125	0.055000	0.20627	0.001000	0.08648	0.215000	0.24574	2.473000	0.45145	0.681000	0.31386	0.655000	0.94253	CCA		0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		55	504	1	0	7.89702e-26	1	8.45446e-26	55	504					T	219870881	G	T	219870881	3	4	89	1	0	0	0	0	1	0	0	0	2750	1348	47	3	1013	3	CCDC108	2	219870881	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	11409101	219870881	23328492	35	33397											
CCDC108	255101	broad.mit.edu	37	chr2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-													tcgaagaagaactcggtcatGggggggatataagggtactg					rs532323836		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219892687delG	ENST00000341552.5	-	13	1979	c.1896delC	c.(1894-1896)cccfs	p.P632fs	CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	632						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)		ACTCGGTCATGGGGGGGATAT	0.597																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1894-1896)ccfs		coiled-coil domain containing 108							58	65	63					2																	219892687		2196	4286	6482	SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892687delG	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.1896delC	2.37:g.219892687delG	ENSP00000340776:p.Pro632fs					CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs	p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1979	-		Renal(207;0.0915)	632					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.1896delC	CCDS2430.2																																																																																				0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	782						7	782	---	---	---	---	-	219892687	G	-	219892687	7	5	89	1	0	1	0	1	0	0	0	0	2750	1335	47	0	3973	0	CCDC108	2	219892687	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08	21806	219892687	23306686	36	33398											
TMEM198	130612	broad.mit.edu	37	chr2	220414551	220414551	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggggacctctgacagcctGctcaggccccccagtgcggg	14	17	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:220414551G>T	ENST00000344458.2	+	6	1643	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.C353F|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	353					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGACAGCCTGCTCAGGCCCC	0.627																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1057-1059)tGc>tTc		transmembrane protein 198							53	60	58					2																	220414551		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220414551G>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.1058G>T	2.37:g.220414551G>T	ENSP00000343507:p.Cys353Phe					TMEM198_ENST00000373883.3_Missense_Mutation_p.C353F	p.C353F			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	6	1643	+		Renal(207;0.0376)	353						Missense_Mutation	SNP	ENST00000344458.2	37	c.1058G>T	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385363	0.42308	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	.	0.567610	0.18237	N	0.147345	T	0.41442	0.1159	N	0.08118	0	0.42499	D	0.992924	B	0.29909	0.261	B	0.28139	0.086	T	0.41288	-0.9517	9	0.46703	T	0.11	-22.6022	18.6999	0.91617	0.0:0.0:1.0:0.0	.	353	Q66K66	TM198_HUMAN	F	353	.	ENSP00000343507:C353F	C	+	2	0	TMEM198	220122795	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.327000	0.52045	2.824000	0.97209	0.655000	0.94253	TGC		0.627	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		42	475	1	0	6.68952e-21	1	7.10599e-21	42	475					T	220414551	G	T	220414551	3	4	89	1	0	0	0	0	1	0	0	0	16171	1319	46	3	1072	3	TMEM198	2	220414551	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	521864	220414551	22784822	37	33399											
SPHKAP	80309	broad.mit.edu	37	chr2	228996774	228996774	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcggttccaaaacGtcatacatccgtgatgactc	8	14	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:228996774G>A	ENST00000392056.3	-	2	106	c.60C>T	c.(58-60)gaC>gaT	p.D20D	SPHKAP_ENST00000344657.5_Silent_p.D20D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	20						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)		GTTCCAAAACGTCATACATCC	0.463																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(58-60)gaC>gaT		SPHK1 interactor, AKAP domain containing							90	92	91					2																	228996774		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228996774G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.60C>T	2.37:g.228996774G>A						SPHKAP_ENST00000344657.5_Silent_p.D20D	p.D20D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	2	106	-		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)	20					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.60C>T	CCDS46537.1																																																																																				0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		55	364	0	0	0	1	0	55	364					A	228996774	G	A	228996774	2	1	89	1	0	0	0	0	0	0	0	1	15100	1136	40	1		1	SPHKAP	2	228996774	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8582223	228996774	14202599	38	33400											
KIF1A	547	broad.mit.edu	37	chr2	241679772	241679772	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtggtccaccacggcCgggatgtaactggaagagag	15	11	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:241679772C>T	ENST00000320389.7	-	34	3614	c.3456G>A	c.(3454-3456)ccG>ccA	p.P1152P	KIF1A_ENST00000498729.2_Silent_p.P1253P	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1152					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)		CCACCACGGCCGGGATGTAAC	0.652																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3757-3759)ccG>ccA		kinesin family member 1A							64	73	70					2																	241679772		2053	4188	6241	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241679772C>T	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.3456G>A	2.37:g.241679772C>T						KIF1A_ENST00000320389.7_Silent_p.P1152P	p.P1253P	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	36	4005	-		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)	1152					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.3759G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824643	0.16678	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.3	-8.6	0.00889	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	0.4882	0.00559	0.3187:0.2189:0.1339:0.3285	.	.	.	.	Q	76	.	.	R	-	2	0	KIF1A	241328445	0.000000	0.05858	0.332000	0.25469	0.904000	0.53231	-1.756000	0.01813	-2.439000	0.00551	-1.728000	0.00702	CGG		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		73	215	0	0	0	1	0	73	215					T	241679772	C	T	241679772	2	4	89	1	0	0	0	0	0	0	0	1	8313	639	23	1		1	KIF1A	2	241679772	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12682998	241679772	1519601	39	33401											
TRANK1	9881	broad.mit.edu	37	chr3	36896676	36896676	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggacttacctgagtgggaccTgtaattctggtacagctggt	13	8	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:36896676T>C	ENST00000429976.2	-	12	4652	c.4405A>G	c.(4405-4407)Agg>Ggg	p.R1469G	TRANK1_ENST00000428977.2_Missense_Mutation_p.R919G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R919G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1469							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						GAGTGGGACCTGTAATTCTGG	0.527																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4405-4407)Agg>Ggg		tetratricopeptide repeat and ankyrin repeat containing 1							55	53	54					3																	36896676		1970	4162	6132	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896676T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4405A>G	3.37:g.36896676T>C	ENSP00000416168:p.Arg1469Gly					TRANK1_ENST00000301807.6_Missense_Mutation_p.R919G|TRANK1_ENST00000428977.2_Missense_Mutation_p.R919G	p.R1469G			O15050	TRNK1_HUMAN			12	4652	-			1469					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4405A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714865	0.68844	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.98090	-4.71;-4.71;-4.71	5.54	2.99	0.34606	.	0.000000	0.64402	D	0.000006	D	0.98248	0.9420	M	0.72894	2.215	0.42207	D	0.99179	D	0.89917	1.0	D	0.83275	0.996	D	0.98977	1.0803	10	0.87932	D	0	.	13.4212	0.60998	0.0:0.0:0.304:0.696	.	1469	O15050	TRNK1_HUMAN	G	919;1469;919	ENSP00000416826:R919G;ENSP00000416168:R1469G;ENSP00000301807:R919G	ENSP00000301807:R919G	R	-	1	2	TRANK1	36871680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.445000	0.21677	1.021000	0.39600	0.459000	0.35465	AGG		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	200	0	0	0	1	0	4	200					C	36896676	T	C	36896676	3	2	89	1	0	0	0	0	1	0	0	0	16507	1579	55	4	4420	4	TRANK1	3	36896676	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08		36896676	161125754	40	33402											
MST1	327	broad.mit.edu	37	chr3	49723112	49723112	+	IGR	DEL	T	T	-													catggctatccccatctgggTtccggcagaagttctcctcc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43	42	43					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	365						7	365	---	---	---	---	-	49723112	T	-	49723112	6	5	89	0	1	1	0	1	0	0	0	0	9931	1725	60	0		0	MST1	3	49723112	IGR	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	12826436	49723112	148299318	41	33403											
MST1	63891	broad.mit.edu	37	chr3	49724837	49724837	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggctccaagcctggcaggGcaggccacccacggtcgtgg	16	14	0	0	rs41291712	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:49724837G>A	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.P69S|MST1_ENST00000449682.2_Missense_Mutation_p.P144S|MST1_ENST00000545762.1_Intron|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						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)		GCCTGGCAGGGCAGGCCACCC	0.587													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17982	0.0		0.0	False		,,,				2504	0.0					ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(430-432)Ccc>Tcc		macrophage stimulating 1 (hepatocyte growth factor-like)							61	57	58					3																	49724837		2202	4299	6501	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724837G>A	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		3.37:g.49724837G>A	Exception_encountered					MST1_ENST00000383728.3_Missense_Mutation_p.P69S|MST1_ENST00000545762.1_Intron|MST1_ENST00000494828.2_5'UTR	p.P144S	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	791	-			130			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.430C>T	CCDS33758.1	100	0.045787545787545784	32	0.06504065040650407	16	0.04419889502762431	29	0.050699300699300696	23	0.030343007915567283	G	0.954	-0.705493	0.03255	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.65364	-0.15;-0.15	5.24	0.07	0.14376	Kringle (4);Kringle-like fold (1);	0.172815	0.27971	N	0.017116	T	0.03739	0.0106	L	0.28776	0.89	0.58432	D	0.999991	B;B;B	0.25772	0.134;0.0;0.0	B;B;B	0.27887	0.084;0.005;0.003	T	0.01956	-1.1240	10	0.11182	T	0.66	.	3.3941	0.07299	0.1282:0.1034:0.3472:0.4212	rs41291712	130;130;144	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	S	144;69	ENSP00000414287:P144S;ENSP00000373234:P69S	ENSP00000373234:P69S	P	-	1	0	MST1	49699841	0.041000	0.20044	0.980000	0.43619	0.254000	0.26022	0.417000	0.21214	0.013000	0.14918	-0.216000	0.12614	CCC		0.587	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		8	435	0	0	0	1	0	8	435					A	49724837	G	A	49724837	1	1	89	0	1	0	0	0	0	0	0	0	9931	1203	42	2		2	MST1	3	49724837	5'Flank	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1725	49724837	148297593	42	33404											
CACNA1D	776	broad.mit.edu	37	chr3	53757658	53757658	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctgtgtttcggtgtgtgCgcctcttaagaatcttcaaa	9	9	4	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:53757658C>T	ENST00000350061.5	+	13	2375	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R642C|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R622C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	622					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)	TCGGTGTGTGCGCCTCTTAAG	0.512																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1924-1926)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						226	231	229					3																	53757658		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757658C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1864C>T	3.37:g.53757658C>T	ENSP00000288133:p.Arg622Cys					CACNA1D_ENST00000422281.2_Missense_Mutation_p.R622C|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R622C	p.R642C	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	2042	+			622					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1924C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786113	0.90282	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;1.0;0.99	D	0.97727	1.0200	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	622;315;622;642	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	C	622;642;622;315	ENSP00000288133:R622C;ENSP00000288139:R642C;ENSP00000409174:R622C;ENSP00000418014:R315C	ENSP00000288139:R642C	R	+	1	0	CACNA1D	53732698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		6	963	0	0	0	1	0	6	963					T	53757658	C	T	53757658	3	4	89	1	0	0	0	0	1	0	0	0	2548	768	27	1	2086	1	CACNA1D	3	53757658	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	4032821	53757658	144264772	43	33405											
PDZRN3	23024	broad.mit.edu	37	chr3	73433515	73433515	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagctcgtgtctgcgcacGtcgatgctggtgttgtagtt	15	8	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73433515G>A	ENST00000263666.4	-	10	2316	c.2202C>T	c.(2200-2202)gaC>gaT	p.D734D	PDZRN3_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Silent_p.D391D|PDZRN3_ENST00000479530.1_Silent_p.D451D|PDZRN3_ENST00000466780.1_Silent_p.D391D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	734					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)		GTCTGCGCACGTCGATGCTGG	0.612																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2200-2202)gaC>gaT		PDZ domain containing ring finger 3							52	46	48					3																	73433515		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433515G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2202C>T	3.37:g.73433515G>A						PDZRN3_ENST00000462146.2_Silent_p.D391D|PDZRN3_ENST00000466780.1_Silent_p.D391D|PDZRN3_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000479530.1_Silent_p.D451D	p.D734D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2316	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	734					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2202C>T	CCDS33789.1																																																																																				0.612	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		49	202	0	0	0	1	0	49	202					A	73433515	G	A	73433515	2	1	89	1	0	0	0	0	0	0	0	1	11751	1136	40	1		1	PDZRN3	3	73433515	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	19675857	73433515	124588915	44	33406											
PDZRN3	23024	broad.mit.edu	37	chr3	73434878	73434878	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctcctccagcatgTccatgtgcaggtcatccaga	11	13	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73434878T>C	ENST00000263666.4	-	9	1691	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	PDZRN3_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D243G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	526					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)		CTCCAGCATGTCCATGTGCAG	0.567																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1576-1578)gAc>gGc		PDZ domain containing ring finger 3							209	159	176					3																	73434878		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73434878T>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1577A>G	3.37:g.73434878T>C	ENSP00000263666:p.Asp526Gly					PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D243G	p.D526G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	9	1691	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	526					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1577A>G	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.35|18.35	3.603678|3.603678	0.66445|0.66445	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.10477|.	2.87;3.59;3.48;3.48;3.59;3.58|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70029|0.70029	0.3177|0.3177	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;D;B;D|.	0.89917|.	0.004;1.0;0.005;0.999|.	B;D;B;D|.	0.87578|.	0.02;0.998;0.013;0.995|.	T|T	0.68625|0.68625	-0.5359|-0.5359	10|5	0.32370|.	T|.	0.25|.	.|.	15.4073|15.4073	0.74890|0.74890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	248;243;243;526|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	G|A	526;248;183;183;243;526;224|123	ENSP00000263666:D526G;ENSP00000442026:D248G;ENSP00000418168:D183G;ENSP00000418484:D183G;ENSP00000418624:D243G;ENSP00000419250:D224G|.	ENSP00000263666:D526G|.	D|T	-|-	2|1	0|0	PDZRN3|PDZRN3	73517568|73517568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.852000|7.852000	0.86927|0.86927	2.117000|2.117000	0.64856|0.64856	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.567	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		34	436	0	0	0	1	0	34	436					C	73434878	T	C	73434878	3	2	89	1	0	0	0	0	1	0	0	0	11751	1667	58	4	1631	4	PDZRN3	3	73434878	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	1363	73434878	124587552	45	33407											
OR5H1	26341	broad.mit.edu	37	chr3	97851900	97851900	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctcttggcaacgatggcatAtgatcgctatgtagccatat	9	9	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:97851900A>G	ENST00000354565.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, 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)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACGATGGCATATGATCGCTAT	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(358-360)tAt>tGt		olfactory receptor, family 5, subfamily H, member 1							135	132	133					3																	97851900		2201	4299	6500	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851900A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.359A>G	3.37:g.97851900A>G	ENSP00000346575:p.Tyr120Cys					RP11-343D2.11_ENST00000508964.1_RNA	p.Y120C	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000354565.2	37	c.359A>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	5.647	0.304060	0.10678	.	.	ENSG00000231192	ENST00000354565	T	0.01347	4.99	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.03783	0.0107	M	0.91090	3.175	0.23238	N	0.998065	B	0.33280	0.405	B	0.30782	0.12	T	0.12682	-1.0538	10	0.87932	D	0	.	10.1009	0.42504	1.0:0.0:0.0:0.0	.	120	A6NKK0	OR5H1_HUMAN	C	120	ENSP00000346575:Y120C	ENSP00000346575:Y120C	Y	+	2	0	OR5H1	99334590	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	2.069000	0.41481	1.481000	0.48307	0.164000	0.16699	TAT		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		6	936	0	0	0	1	0	6	936					G	97851900	A	G	97851900	3	3	89	1	0	0	0	0	1	0	0	0	11201	449	16	4	361	4	OR5H1	3	97851900	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	24417022	97851900	100170530	46	33408											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						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						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	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.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		9	550						9	550	---	---	---	---	-	113380090	T	-	113380090	7	5	89	1	0	1	0	1	0	0	0	0	8298	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	15528190	113380090	84642340	47	33409											
KIAA1407	57577	broad.mit.edu	37	chr3	113755633	113755633	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaatagccacataaaTctgggggaaacagaacaaca	7	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113755633T>A	ENST00000295878.3	-	5	562	c.416A>T	c.(415-417)gAt>gTt	p.D139V	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	139										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCACATAAATCTGGGGGAAA	0.294																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.e5-1		KIAA1407							66	62	63					3																	113755633		2203	4300	6503	SO:0001630	splice_region_variant	57577							g.chr3:113755633T>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.416-1A>T	3.37:g.113755633T>A						KIAA1407_ENST00000545063.1_5'UTR	p.D139_splice	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			5	562	-			139					B4DYL1|Q9P2E0	Splice_Site	SNP	ENST00000295878.3	37	c.415_splice	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949426	0.73787	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.52983	1.26;0.64	5.28	5.28	0.74379	.	0.056870	0.64402	D	0.000002	T	0.62660	0.2446	L	0.55481	1.735	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.989	P;D;P	0.66497	0.9;0.944;0.892	T	0.64521	-0.6388	10	0.56958	D	0.05	.	15.3725	0.74577	0.0:0.0:0.0:1.0	.	126;15;139	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	V	139;126;103	ENSP00000295878:D139V;ENSP00000418099:D126V	ENSP00000295878:D139V	D	-	2	0	KIAA1407	115238323	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	5.908000	0.69916	2.207000	0.71202	0.528000	0.53228	GAT		0.294	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	Missense_Mutation	43	193	0	0	0	1	0	43	193					A	113755633	T	A	113755633	5	1	89	1	0	0	0	0	0	0	1	0	8259	1449	50	5	2446	5	KIAA1407	3	113755633	Splice_Site	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	375543	113755633	84266797	48	33410											
SLITRK3	22865	broad.mit.edu	37	chr3	164906329	164906331	+	In_Frame_Del	DEL	CCT	CCT	-													ttgggctgatgaaacagccaCctcctcctcctcacgaggct							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:164906329_164906331delCCT	ENST00000475390.1	-	2	2731_2733	c.2288_2290delAGG	c.(2287-2292)gaggtg>gtg	p.E763del	SLITRK3_ENST00000241274.3_In_Frame_Del_p.E763del			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	763					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						GAAACAGCCACCTCCTCCTCCTC	0.581										HNSCC(40;0.11)																												ENST00000475390.1																			0				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						c.(2287-2292)gtg>g		SLIT and NTRK-like family, member 3																																				SO:0001651	inframe_deletion	22865					integral to membrane		g.chr3:164906329_164906331delCCT	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.2288_2290delAGG	3.37:g.164906338_164906340delCCT	ENSP00000420091:p.Glu763del	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_In_Frame_Del_p.EV763del	p.EV763del			O94933	SLIK3_HUMAN			2	2731_2733	-			763					Q1RMY6	In_Frame_Del	DEL	ENST00000475390.1	37	c.2288_2290delAGG	CCDS3197.1																																																																																				0.581	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	637						7	637	---	---	---	---	-	164906331	CCT	-	164906329	7	5	89	1	0	1	0	1	0	0	0	0	14794	507	18	0	647	0	SLITRK3	3	164906329	In_Frame_Del	DEL	CCT	TCGA-IB-A6UG-01A-32D-A33T-08	51150696	164906329	33116101	49	33411											
CRIPAK	285464	broad.mit.edu	37	chr4	1389023	1389024	+	Frame_Shift_Ins	INS	-	-	CA													atgcggagtgcccgcctgctINScacacgtgcccatgtggagt							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:1389023_1389024insCA	ENST00000324803.4	+	1	3684_3685	c.724_725insCA	c.(724-726)tcafs	p.S242fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	242					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACACGTGCCC	0.678																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(724-726)acafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389023_1389024insCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.727_728dupCA	4.37:g.1389026_1389027dupCA	ENSP00000323978:p.Ser242fs						p.T242fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3684_3685	+			242					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.724_725insCA	CCDS3349.1																																																																																				0.678	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	2498						8	2498	---	---	---	---	CA	1389024	-	CA	1389023	7	5	89	1	0	1	1	0	0	0	0	0	3886	1551	54	0	726	0	CRIPAK	4	1389023	Frame_Shift_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08		1389023	189765253	50	33412											
SEC24D	9871	broad.mit.edu	37	chr4	119686069	119686069	+	Frame_Shift_Del	DEL	G	G	-													gatgttggaaatagaatggtGgaactaataaaaacaaaata							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:119686069delG	ENST00000280551.6	-	10	1422	c.1184delC	c.(1183-1185)ccafs	p.P396fs	SEC24D_ENST00000511481.1_Frame_Shift_Del_p.P27fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Frame_Shift_Del_p.P397fs			O94855	SC24D_HUMAN	SEC24 family member D	396					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATAGAATGGTGGAACTAATAA	0.323																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1186-1188)cafs		SEC24 family member D							87	88	88					4																	119686069		2203	4300	6503	SO:0001589	frameshift_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119686069delG	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1184delC	4.37:g.119686069delG	ENSP00000280551:p.Pro396fs					SEC24D_ENST00000280551.6_Frame_Shift_Del_p.P396fs|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.P27fs|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000505134.1_5'UTR	p.P397fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			10	1458	-			396					Q8IYI7	Frame_Shift_Del	DEL	ENST00000280551.6	37	c.1187delC	CCDS3710.1																																																																																				0.323	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			36	436						36	436	---	---	---	---	-	119686069	G	-	119686069	7	5	89	1	0	1	0	1	0	0	0	0	14047	1348	47	0	1970	0	SEC24D	4	119686069	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08	118297046	119686069	71468207	51	33413											
TRPC3	7222	broad.mit.edu	37	chr4	122846207	122846207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttaatggcaagtttgacaCgacttaatgaagctttgtgc	9	7	0	2	rs201312365		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:122846207C>T	ENST00000379645.3	-	3	1215	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	TRPC3_ENST00000264811.5_Missense_Mutation_p.R308H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	296					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R308P(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTTGACACGACTTAATGA	0.423																																						ENST00000264811.5																			1	Substitution - Missense(1)	p.R308P(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(922-924)cGt>cAt		transient receptor potential cation channel, subfamily C, member 3							211	188	196					4																	122846207		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122846207C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1142G>A	4.37:g.122846207C>T	ENSP00000368966:p.Arg381His					TRPC3_ENST00000379645.3_Missense_Mutation_p.R381H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308H	p.R308H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			2	1341	-			296					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.923G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670425	0.96754	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.74315	-0.83;-0.83;-0.83	5.92	5.92	0.95590	.	0.075570	0.56097	D	0.000024	D	0.89643	0.6774	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	0.986;1.0;0.996	P;D;P	0.70716	0.684;0.97;0.781	D	0.90928	0.4788	10	0.87932	D	0	-16.1466	20.3081	0.98638	0.0:1.0:0.0:0.0	.	296;308;381	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	H	308;381;308	ENSP00000264811:R308H;ENSP00000368966:R381H;ENSP00000426899:R308H	ENSP00000264811:R308H	R	-	2	0	TRPC3	123065657	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.755000	0.85180	2.795000	0.96236	0.655000	0.94253	CGT		0.423	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		96	474	0	0	0	1	0	96	474					T	122846207	C	T	122846207	3	4	89	1	0	0	0	0	1	0	0	0	16632	536	19	1	1663	1	TRPC3	4	122846207	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3160138	122846207	68308069	52	33414											
C4orf46	201725	broad.mit.edu	37	chr4	159592816	159592816	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggtccaccgttgggccGctgctcctgctcggaactgg	14	14	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:159592816G>A	ENST00000379205.4	-	1	382	c.138C>T	c.(136-138)agC>agT	p.S46S	C4orf46_ENST00000508457.1_Silent_p.S46S|C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000307738.5_5'Flank|ETFDH_ENST00000511912.1_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	46										kidney(1)|lung(3)|skin(1)	5						CCGTTGGGCCGCTGCTCCTGC	0.687																																						ENST00000379205.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(136-138)agC>agT		chromosome 4 open reading frame 46							33	28	30					4																	159592816		2203	4300	6503	SO:0001819	synonymous_variant	201725							g.chr4:159592816G>A		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"renal cancer differentiation gene 1"						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.138C>T	4.37:g.159592816G>A						C4orf46_ENST00000508457.1_Silent_p.S46S|C4orf46_ENST00000508836.1_Intron	p.S46S	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN			1	382	-			46					B3KNH7	Silent	SNP	ENST00000379205.4	37	c.138C>T	CCDS34088.1																																																																																				0.687	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		4	137	0	0	0	1	0	4	137					A	159592816	G	A	159592816	2	1	89	1	0	0	0	0	0	0	0	1	2281	1078	38	1		1	C4orf46	4	159592816	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	36746609	159592816	31561460	53	33415											
ODZ3	55714	broad.mit.edu	37	chr4	183594344	183594344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgattggagtatatggccGgaaaggcttaccgccttccc	11	10	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:183594344G>A	ENST00000511685.1	+	7	1421	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R433Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	433					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)										GTATATGGCCGGAAAGGCTTA	0.388																																						ENST00000511685.1																			0											c.(1297-1299)cGg>cAg		teneurin transmembrane protein 3							62	58	59					4																	183594344		1817	4081	5898	SO:0001583	missense	55714							g.chr4:183594344G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1298G>A	4.37:g.183594344G>A	ENSP00000424226:p.Arg433Gln					TENM3_ENST00000406950.2_Missense_Mutation_p.R433Q	p.R433Q							7	1421	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1298G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952737	0.92660	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.34472	1.36;1.36	4.8	4.8	0.61643	.	.	.	.	.	T	0.63628	0.2527	M	0.82517	2.595	0.58432	D	0.999997	D	0.69078	0.997	D	0.67725	0.953	T	0.69932	-0.5011	9	0.87932	D	0	.	18.4115	0.90552	0.0:0.0:1.0:0.0	.	433	Q9P273	TEN3_HUMAN	Q	433	ENSP00000424226:R433Q;ENSP00000385276:R433Q	ENSP00000385276:R433Q	R	+	2	0	ODZ3	183831338	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	9.601000	0.98297	2.634000	0.89283	0.655000	0.94253	CGG		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			20	124	0	0	0	1	0	20	124					A	183594344	G	A	183594344	3	1	89	1	0	0	0	0	1	0	0	0	10878	1116	39	1	1320	1	ODZ3	4	183594344	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	24001528	183594344	7559932	54	33416											
CEP72	55722	broad.mit.edu	37	chr5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-													cctgcaaagccgccttgctgAgcagcagcagcagcacgccc					rs141221365		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gagcag>gag	p.Q494del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	494					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1468-1473)gag>g		centrosomal protein 72kDa				126,4140		62,2,2069						4.2	0.1		dbSNP_134	76	220,8034		107,6,4014	no	coding	CEP72	NM_018140.3		169,8,6083	A1A1,A1R,RR		2.6654,2.9536,2.7636				346,12174				SO:0001651	inframe_deletion	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640649_640651delAGC	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1469_1471delAGC	5.37:g.640658_640660delAGC	ENSP00000264935:p.Gln494del					CEP72_ENST00000444221.1_3'UTR	p.EQ490del	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1559_1561	+			490					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	In_Frame_Del	DEL	ENST00000264935.5	37	c.1469_1471delAGC	CCDS34126.1																																																																																				0.621	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		7	446						7	446	---	---	---	---	-	640651	AGC	-	640649	7	5	89	1	0	1	0	1	0	0	0	0	3269	304	11	0	1503	0	CEP72	5	640649	In_Frame_Del	DEL	AGC	TCGA-IB-A6UG-01A-32D-A33T-08		640649	180274611	55	33417											
SLC12A7	10723	broad.mit.edu	37	chr5	1083957	1083957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcgctgggctgggagccGttgcagaagaggccccagag	19	11	0	3	rs552429468	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1083957G>A	ENST00000264930.5	-	8	1075	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	344					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)	GCTGGGAGCCGTTGCAGAAGA	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		16849	0.0		0.0	False		,,,				2504	0.002					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1030-1032)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						80	73	76					5																	1083957		2200	4300	6500	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083957G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1032C>T	5.37:g.1083957G>A							p.N344N	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1075	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		344					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1032C>T	CCDS34129.1																																																																																				0.647	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	465	0	0	0	1	0	5	465					A	1083957	G	A	1083957	2	1	89	1	0	0	0	0	0	0	0	1	14438	1136	40	1		1	SLC12A7	5	1083957	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	443308	1083957	179831303	56	33418											
SLC6A18	348932	broad.mit.edu	37	chr5	1246093	1246093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcacccggcggaggcGgacgtggagggacagggacg	20	11	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1246093G>A	ENST00000324642.3	+	12	1910	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	596					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCGGAGGCGGACGTGGAGG	0.731																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1786-1788)cGg>cAg		solute carrier family 6 (neutral amino acid transporter), member 18							14	17	16					5																	1246093		2196	4279	6475	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1246093G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1787G>A	5.37:g.1246093G>A	ENSP00000323549:p.Arg596Gln						p.R596Q	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		12	1910	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		596						Missense_Mutation	SNP	ENST00000324642.3	37	c.1787G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599235	0.13939	.	.	ENSG00000164363	ENST00000324642	T	0.74002	-0.8	4.41	0.824	0.18818	.	6.616820	0.01082	N	0.005003	T	0.53077	0.1774	N	0.08118	0	0.09310	N	0.999999	B	0.21147	0.052	B	0.06405	0.002	T	0.41592	-0.9500	10	0.12766	T	0.61	.	6.3418	0.21327	0.4495:0.0:0.5505:0.0	.	596	Q96N87	S6A18_HUMAN	Q	596	ENSP00000323549:R596Q	ENSP00000323549:R596Q	R	+	2	0	SLC6A18	1299093	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.408000	0.02485	-0.179000	0.10654	0.305000	0.20034	CGG		0.731	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		9	141	0	0	0	1	0	9	141					A	1246093	G	A	1246093	3	1	89	1	0	0	0	0	1	0	0	0	14731	1116	39	1	1833	1	SLC6A18	5	1246093	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	162136	1246093	179669167	57	33419											
ADAMTS16	170690	broad.mit.edu	37	chr5	5191804	5191804	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccttcacaggatttgCacccataagtggaatgtgta	9	8	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:5191804C>T	ENST00000274181.7	+	8	1352	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.A405V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	405	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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						ACAGGATTTGCACCCATAAGT	0.388																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1213-1215)gCa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							139	130	133					5																	5191804		1910	4121	6031	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5191804C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1214C>T	5.37:g.5191804C>T	ENSP00000274181:p.Ala405Val					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.A405V	p.A405V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			8	1352	+			405			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1214C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870816	0.91587	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.95656	-3.77;-3.77	4.74	4.74	0.60224	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.995	D;D;D	0.75020	0.939;0.985;0.976	D	0.99818	1.1045	10	0.87932	D	0	.	16.5194	0.84309	0.0:1.0:0.0:0.0	.	405;405;405	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	V	405	ENSP00000274181:A405V;ENSP00000421631:A405V	ENSP00000274181:A405V	A	+	2	0	ADAMTS16	5244804	1.000000	0.71417	0.952000	0.39060	0.889000	0.51656	7.324000	0.79115	2.186000	0.69663	0.655000	0.94253	GCA		0.388	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		6	611	0	0	0	1	0	6	611					T	5191804	C	T	5191804	3	4	89	1	0	0	0	0	1	0	0	0	261	710	25	2	1244	2	ADAMTS16	5	5191804	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3945711	5191804	175723456	58	33420											
DNAH5	1767	broad.mit.edu	37	chr5	13776708	13776708	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccgactcatgaagtagtcGtgcaggttctcattggtagg	12	9	2	1	rs563907105		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:13776708G>A	ENST00000265104.4	-	55	9317	c.9213C>T	c.(9211-9213)caC>caT	p.H3071H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3071	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAAGTAGTCGTGCAGGTTCT	0.468									Kartagener syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		18448	0.0		0.0	False		,,,				2504	0.0					ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9211-9213)caC>caT		dynein, axonemal, heavy chain 5							114	105	108					5																	13776708		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13776708G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9213C>T	5.37:g.13776708G>A							p.H3071H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			55	9317	-	Lung NSC(4;0.00476)		3071			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9213C>T	CCDS3882.1																																																																																				0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	567	0	0	0	1	0	8	567					A	13776708	G	A	13776708	2	1	89	1	0	0	0	0	0	0	0	1	4620	1136	40	1		1	DNAH5	5	13776708	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8584904	13776708	167138552	59	33421											
FBXL7	23194	broad.mit.edu	37	chr5	15928366	15928366	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgacgggcgagaccatcaaCgtggaccgcgccctcaaggt	13	14	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000510662.1_Silent_p.N118N|FBXL7_ENST00000329673.7_Silent_p.N153N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667																																						ENST00000504595.1																			0				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						c.(493-495)aaC>aaT		F-box and leucine-rich repeat protein 7							24	28	27					5																	15928366		2118	4226	6344	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928366C>T	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.495C>T	5.37:g.15928366C>T						FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	p.N165N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	976	+			165					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.495C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		7	129	0	0	0	1	0	7	129					T	15928366	C	T	15928366	2	4	89	1	0	0	0	0	0	0	0	1	5749	535	19	1		1	FBXL7	5	15928366	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2151658	15928366	164986894	60	33422											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576636	33576636	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatctttgtcctcaggCtgttctctttcttcccctga	5	14	5	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:33576636C>A	ENST00000504830.1	-	19	3830	c.3495G>T	c.(3493-3495)caG>caT	p.Q1165H	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1080H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1165	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCTCAGGCTGTTCTCTTT	0.473										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3493-3495)caG>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							179	163	168					5																	33576636		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576636C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3495G>T	5.37:g.33576636C>A	ENSP00000422554:p.Gln1165His	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1080H	p.Q1165H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3830	-			1165			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3495G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	5.753	0.323334	0.10900	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60171	0.22;0.21	5.28	-0.364	0.12553	.	1.070710	0.07089	N	0.838451	T	0.50497	0.1619	L	0.32530	0.975	0.09310	N	1	P;P	0.46220	0.874;0.8	P;B	0.48141	0.568;0.365	T	0.43540	-0.9385	10	0.15499	T	0.54	.	9.923	0.41474	0.0:0.5766:0.0:0.4234	.	1080;1165	P58397-3;P58397	.;ATS12_HUMAN	H	1165;1080	ENSP00000422554:Q1165H;ENSP00000344847:Q1080H	ENSP00000344847:Q1080H	Q	-	3	2	ADAMTS12	33612393	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.263000	0.18478	0.012000	0.14892	0.655000	0.94253	CAG		0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		86	428	1	0	1.16018e-38	1	1.2519e-38	86	428					A	33576636	C	A	33576636	3	1	89	1	0	0	0	0	1	0	0	0	257	796	28	3	1313	3	ADAMTS12	5	33576636	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	17648270	33576636	147338624	61	33423											
PCDHA10	56139	broad.mit.edu	37	chr5	140236911	140236911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgagctggtggtgaccgcGcgggacgggggctcgcctcc	18	12	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140236911G>A	ENST00000307360.5	+	1	1278	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCGCGCGGGACGGGG	0.647																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1276-1278)gcG>gcA									106	103	104					5																	140236911		2197	4274	6471	SO:0001819	synonymous_variant	0							g.chr5:140236911G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1278G>A	5.37:g.140236911G>A						PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.A426A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1278	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1278G>A	CCDS54921.1																																																																																				0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		201	683	0	0	0	1	0	201	683					A	140236911	G	A	140236911	2	1	89	1	0	0	0	0	0	0	0	1	11562	1074	38	1		1	PCDHA10	5	140236911	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	106660275	140236911	40678349	62	33424											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	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.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	639	1	0	9.31168e-06	1	9.34591e-06	7	639					T	140553994	G	T	140553994	2	4	89	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	317083	140553994	40361266	63	33425											
GRIA1	2890	broad.mit.edu	37	chr5	153174277	153174277	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaagggcgagtgcggcagCgggggaggtgattccaaggt	20	7	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:153174277C>T	ENST00000285900.5	+	14	2710	c.2367C>T	c.(2365-2367)agC>agT	p.S789S	GRIA1_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000340592.5_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	789					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)	AGTGCGGCAGCGGGGGAGGTG	0.463																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2365-2367)agC>agT		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						50	52	52					5																	153174277		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174277C>T		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.2367C>T	5.37:g.153174277C>T						GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Silent_p.S709S	p.S789S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2710	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	789					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2367C>T	CCDS4322.1																																																																																				0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			40	179	0	0	0	1	0	40	179					T	153174277	C	T	153174277	2	4	89	1	0	0	0	0	0	0	0	1	6797	767	27	1		1	GRIA1	5	153174277	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	12620283	153174277	27740983	64	33426											
KIF4B	285643	broad.mit.edu	37	chr5	154393886	154393886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatcttctatgcccatctcGtgagaaagctcaaataaata	7	9	4	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:154393886G>A	ENST00000435029.4	+	1	627	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	156	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R156L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCCATCTCGTGAGAAAGCT	0.358																																						ENST00000435029.4																			2	Substitution - Missense(2)	p.R156L(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(466-468)cGt>cAt		kinesin family member 4B							157	160	159					5																	154393886		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393886G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.467G>A	5.37:g.154393886G>A	ENSP00000387875:p.Arg156His						p.R156H	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	627	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	156			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.467G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	9.001	0.980005	0.18812	.	.	ENSG00000226650	ENST00000435029	T	0.72835	-0.69	1.73	0.834	0.18880	Kinesin, motor domain (4);	.	.	.	.	T	0.57169	0.2035	L	0.39514	1.22	0.36431	D	0.864927	B	0.14012	0.009	B	0.18561	0.022	T	0.55256	-0.8169	9	0.54805	T	0.06	.	6.1483	0.20298	0.1824:0.0:0.8176:0.0	.	156	Q2VIQ3	KIF4B_HUMAN	H	156	ENSP00000387875:R156H	ENSP00000387875:R156H	R	+	2	0	KIF4B	154374079	0.001000	0.12720	0.940000	0.37924	0.851000	0.48451	-1.547000	0.02186	0.307000	0.22880	0.655000	0.94253	CGT		0.358	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			135	508	0	0	0	1	0	135	508					A	154393886	G	A	154393886	3	1	89	1	0	0	0	0	1	0	0	0	8334	1145	40	1	469	1	KIF4B	5	154393886	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1219609	154393886	26521374	65	33427											
FLT4	2324	broad.mit.edu	37	chr5	180051060	180051060	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgctgctgccgccgccGgctgccaggaccagaagagg	15	14	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180051060G>A	ENST00000261937.6	-	11	1501	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	FLT4_ENST00000502649.1_Splice_Site_p.R475W|FLT4_ENST00000393347.3_Splice_Site_p.R475W|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	475	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGCCGCCGGCTGCCAGGA	0.647																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e11-1		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						34	33	33					5																	180051060		2202	4298	6500	SO:0001630	splice_region_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180051060G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1422-1C>T	5.37:g.180051060G>A						FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Splice_Site_p.R475_splice|FLT4_ENST00000502649.1_Splice_Site_p.R475_splice	p.R475_splice	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	11	1501	-	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)	475			Ig-like C2-type 5.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37	c.1421_splice	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228890	0.39399	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.77489	-1.1;-1.09;-1.09	4.79	2.85	0.33270	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);	.	.	.	.	T	0.68650	0.3024	N	0.08118	0	0.43462	D	0.995669	D;D;D;D	0.71674	0.998;0.998;0.996;0.998	P;P;P;P	0.58970	0.849;0.809;0.72;0.72	T	0.66344	-0.5947	9	0.37606	T	0.19	.	7.737	0.28821	0.084:0.0:0.7557:0.1603	.	475;285;475;475	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	475;475;475;285	ENSP00000261937:R475W;ENSP00000377016:R475W;ENSP00000426057:R475W	ENSP00000261937:R475W	R	-	1	2	FLT4	179983666	0.775000	0.28604	0.985000	0.45067	0.017000	0.09413	0.047000	0.14056	1.163000	0.42636	-0.258000	0.10820	CGG		0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Missense_Mutation	28	184	0	0	0	1	0	28	184					A	180051060	G	A	180051060	5	1	89	1	0	0	0	0	0	0	1	0	5969	1130	39	1	2756	1	FLT4	5	180051060	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	25657174	180051060	864200	66	33428											
ZNF184	7738	broad.mit.edu	37	chr6	27419354	27419354	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctccccagtgtgaattcGttgatgctgagttagatggg	12	8	1	4	rs377450857		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:27419354G>A	ENST00000211936.6	-	6	2268	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.R662*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	662					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						GTGTGAATTCGTTGATGCTGA	0.423																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1984-1986)Cga>Tga		zinc finger protein 184		G	stop/ARG	0,4406		0,0,2203	97	103	101		1984	2.9	0.3	6		101	1,8599		0,1,4299	no	stop-gained	ZNF184	NM_007149.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		662/752	27419354	1,13005	2203	4300	6503	SO:0001587	stop_gained	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419354G>A	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.1984C>T	6.37:g.27419354G>A	ENSP00000211936:p.Arg662*					ZNF184_ENST00000377419.1_Nonsense_Mutation_p.R662*	p.R662*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2268	-			662					B2R715|O60792|Q8TBA9	Nonsense_Mutation	SNP	ENST00000211936.6	37	c.1984C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	38	6.740066	0.97805	0.0	1.16E-4	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	.	.	.	4.85	2.87	0.33458	.	0.385319	0.19188	N	0.120492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.467	0.44614	0.0:0.0:0.4853:0.5147	.	.	.	.	X	662;662;578	.	ENSP00000211936:R662X	R	-	1	2	ZNF184	27527333	0.006000	0.16342	0.276000	0.24689	0.998000	0.95712	1.414000	0.34736	1.336000	0.45506	0.591000	0.81541	CGA		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		40	347	0	0	0	1	0	40	347					A	27419354	G	A	27419354	4	1	89	1	0	0	0	0	0	1	0	0	17804	1153	40	1	275	1	ZNF184	6	27419354	Nonsense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		27419354	143695713	67	33429											
EHMT2	10919	broad.mit.edu	37	chr6	31857309	31857311	+	In_Frame_Del	DEL	TCT	TCT	-													cctcttcctcctcctcttccTcttcttcttcttcctcctct					rs138941874		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:31857309_31857311delTCT	ENST00000375537.4	-	8	939_941	c.933_935delAGA	c.(931-936)gaagag>gag	p.311_312EE>E	EHMT2_ENST00000395728.3_In_Frame_Del_p.368_369EE>E|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_In_Frame_Del_p.311_312EE>E|EHMT2_ENST00000375528.4_In_Frame_Del_p.368_369EE>E	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311	Poly-Glu.				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						ctcctcttcctcttcttcttctt	0.493																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(1102-1107)gag>ga		euchromatic histone-lysine N-methyltransferase 2																																				SO:0001651	inframe_deletion	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31857309_31857311delTCT	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.933_935delAGA	6.37:g.31857318_31857320delTCT	ENSP00000364687:p.Glu323del					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_In_Frame_Del_p.EE378del|EHMT2_ENST00000375530.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375537.4_In_Frame_Del_p.EE321del	p.EE378del			Q96KQ7	EHMT2_HUMAN			7	1103_1105	-			321					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	In_Frame_Del	DEL	ENST00000375537.4	37	c.1104_1106delAGA	CCDS4725.1																																																																																				0.493	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		7	371						7	371	---	---	---	---	-	31857311	TCT	-	31857309	7	5	89	1	0	1	0	1	0	0	0	0	5000	1551	54	0	2781	0	EHMT2	6	31857309	In_Frame_Del	DEL	TCT	TCGA-IB-A6UG-01A-32D-A33T-08	4437955	31857309	139257758	68	33430											
DAXX	1616	broad.mit.edu	37	chr6	33289253	33289253	+	Frame_Shift_Del	DEL	A	A	-													tgcagaactccgccgaggccAaaaacagagagtgggcacgt							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:33289253delA	ENST00000374542.5	-	3	503	c.299delT	c.(298-300)ttgfs	p.L100fs	DAXX_ENST00000414083.2_Frame_Shift_Del_p.L25fs|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Frame_Shift_Del_p.L100fs	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	100	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						CGCCGAGGCCAAAAACAGAGA	0.547			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(298-300)tgfs		death-domain associated protein							69	74	73					6																	33289253		2203	4300	6503	SO:0001589	frameshift_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289253delA	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.299delT	6.37:g.33289253delA	ENSP00000363668:p.Leu100fs					DAXX_ENST00000414083.2_Frame_Shift_Del_p.L25fs|DAXX_ENST00000266000.6_Frame_Shift_Del_p.L100fs|DAXX_ENST00000477162.1_Intron	p.L100fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	503	-			100			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Del	DEL	ENST00000374542.5	37	c.299delT	CCDS4776.1																																																																																				0.547	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			7	653						7	653	---	---	---	---	-	33289253	A	-	33289253	7	5	89	1	0	1	0	1	0	0	0	0	4254	131	5	0	1947	0	DAXX	6	33289253	Frame_Shift_Del	DEL	A	TCGA-IB-A6UG-01A-32D-A33T-08	1431944	33289253	137825814	69	33431											
DAXX	1616	broad.mit.edu	37	chr6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttgtagcatttcttgCcgcccgaactactgcttcct	7	15	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.G55D	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	55	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						GCATTTCTTGCCGCCCGAACT	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(163-165)gGc>gAc		death-domain associated protein							221	227	225					6																	33289539		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289539C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.164G>A	6.37:g.33289539C>T	ENSP00000363668:p.Gly55Asp					DAXX_ENST00000266000.6_Missense_Mutation_p.G55D|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron	p.G55D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			2	368	-			55			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.164G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608951	0.28623	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	4.89	4.02	0.46733	.	0.660504	0.16364	N	0.217655	T	0.29355	0.0731	L	0.36672	1.1	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.44860	0.462;0.462	T	0.03503	-1.1030	9	0.25106	T	0.35	-0.4917	10.4358	0.44435	0.1947:0.8053:0.0:0.0	.	67;55	B4E1C1;Q9UER7	.;DAXX_HUMAN	D	55	.	ENSP00000266000:G55D	G	-	2	0	DAXX	33397517	0.869000	0.29996	0.983000	0.44433	0.735000	0.41995	1.033000	0.30191	1.281000	0.44480	0.549000	0.68633	GGC		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			7	1311	0	0	0	1	0	7	1311					T	33289539	C	T	33289539	3	4	89	1	0	0	0	0	1	0	0	0	4254	739	26	2	2086	2	DAXX	6	33289539	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	286	33289539	137825528	70	33432											
KIF6	221458	broad.mit.edu	37	chr6	39513398	39513398	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaactttacgcatatcCgcgccaacctctaatctact	5	13	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:39513398C>T	ENST00000287152.7	-	11	1342	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	KIF6_ENST00000538893.1_Silent_p.A416A|KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373216.3_Silent_p.A416A|KIF6_ENST00000373213.4_Silent_p.A255A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TACGCATATCCGCGCCAACCT	0.363																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1246-1248)gcG>gcA		kinesin family member 6							117	113	115					6																	39513398		2203	4300	6503	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513398C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1248G>A	6.37:g.39513398C>T						KIF6_ENST00000373216.3_Silent_p.A416A|KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373213.4_Silent_p.A255A|KIF6_ENST00000538893.1_Silent_p.A416A	p.A416A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			11	1342	-			416					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1248G>A	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	1.650	-0.514326	0.04200	.	.	ENSG00000164627	ENST00000458470	.	.	.	5.56	-10.3	0.00346	.	.	.	.	.	T	0.26231	0.0640	.	.	.	0.47584	D	0.999465	.	.	.	.	.	.	T	0.48990	-0.8985	4	.	.	.	.	6.4908	0.22115	0.2761:0.1099:0.5103:0.1038	.	.	.	.	Q	308	.	.	R	-	2	0	KIF6	39621376	0.004000	0.15560	0.015000	0.15790	0.301000	0.27625	-1.882000	0.01624	-1.844000	0.01178	-2.773000	0.00119	CGG		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		55	367	0	0	0	1	0	55	367					T	39513398	C	T	39513398	2	4	89	1	0	0	0	0	0	0	0	1	8338	639	23	1		1	KIF6	6	39513398	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	6223859	39513398	131601669	71	33433											
YIPF3	25844	broad.mit.edu	37	chr6	43483392	43483392	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgtcgatgttggcGtacaagctgaaggccctgga	15	8	0	2	rs140780761		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:43483392G>A	ENST00000372422.2	-	3	518	c.336C>T	c.(334-336)taC>taT	p.Y112Y	POLR1C_ENST00000372389.3_5'Flank|YIPF3_ENST00000506469.1_Silent_p.Y118Y|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	112					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CGATGTTGGCGTACAAGCTGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20250	0.0		0.0	False		,,,				2504	0.0					ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(334-336)taC>taT		Yip1 domain family, member 3		G		2,4404	6.2+/-15.9	0,2,2201	125	116	119		336	-8.4	0.7	6	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	YIPF3	NM_015388.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		112/351	43483392	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43483392G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"Yip1 domain family"	21023	protein-coding gene	gene with protein product		609775	"chromosome 6 open reading frame 109"	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.336C>T	6.37:g.43483392G>A						YIPF3_ENST00000506469.1_Silent_p.Y118Y	p.Y112Y	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		3	518	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		112					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.336C>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010558	0.19277	4.54E-4	0.0	ENSG00000137207	ENST00000500090	.	.	.	5.81	-8.4	0.00965	.	.	.	.	.	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65952	-0.6043	4	.	.	.	-11.1139	15.6501	0.77084	0.2183:0.0:0.6945:0.0872	.	.	.	.	M	12	.	.	T	-	2	0	YIPF3	43591370	0.172000	0.23043	0.740000	0.30986	0.972000	0.66771	-0.370000	0.07523	-1.626000	0.01552	-0.459000	0.05422	ACG		0.517	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		6	587	0	0	0	1	0	6	587					A	43483392	G	A	43483392	2	1	89	1	0	0	0	0	0	0	0	1	17533	1140	40	1		1	YIPF3	6	43483392	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3969994	43483392	127631675	72	33434											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	11	14	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	202	0	0	0	1	0	5	202					A	45390463	G	A	45390463	2	1	89	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1907071	45390463	125724604	73	33435											
GABRR2	2570	broad.mit.edu	37	chr6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaggtagttgacagccGcatactccagcaccgagagg	13	11	1	2	rs149245573		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	343					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)|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)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTTGACAGCCGCATACTCCAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20743	0.0		0.001	False		,,,				2504	0.0					ENST00000402938.3																			3	Substitution - Missense(3)	p.A343V(3)	prostate(2)|lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1027-1029)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, rho 2							116	88	97					6																	89974189		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974189G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val					GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	p.A343V			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1161	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	368					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1028C>T	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		0.597	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			4	222	0	0	0	1	0	4	222					A	89974189	G	A	89974189	3	1	89	1	0	0	0	0	1	0	0	0	6204	1087	38	1	377	1	GABRR2	6	89974189	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	44583726	89974189	81140878	74	33436											
GLCCI1	113263	broad.mit.edu	37	chr7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-													cctctgtccagcagccatccCagcagcagcagctcctgcag							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		8	1672						8	1672	---	---	---	---	-	8126099	CAG	-	8126097	7	5	89	1	0	1	0	1	0	0	0	0	6460	595	21	0	1603	0	GLCCI1	7	8126097	In_Frame_Del	DEL	CAG	TCGA-IB-A6UG-01A-32D-A33T-08		8126097	151012566	75	33437											
STYXL1	51657	broad.mit.edu	37	chr7	75651194	75651196	+	In_Frame_Del	DEL	ATC	ATC	-													ccatcaccatcagagtctgaAtcatcatcatcatcttttaa					rs374157398		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:75651194_75651196delATC	ENST00000248600.1	-	4	622_624	c.280_282delGAT	c.(280-282)gatdel	p.D94del	STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del|STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000451157.1_In_Frame_Del_p.D94del	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	94	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGAGTCTGAATCATCATCATCA	0.433																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(280-282)del		serine/threonine/tyrosine interacting-like 1																																				SO:0001651	inframe_deletion	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75651194_75651196delATC	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.280_282delGAT	7.37:g.75651203_75651205delATC	ENSP00000248600:p.Asp94del					STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del|STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del|STYXL1_ENST00000248600.1_In_Frame_Del_p.D94del|STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron	p.D94del			Q9Y6J8	STYL1_HUMAN			4	449_451	-			94			Rhodanese.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	In_Frame_Del	DEL	ENST00000248600.1	37	c.280_282delGAT	CCDS5580.1																																																																																				0.433	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		7	1653						7	1653	---	---	---	---	-	75651196	ATC	-	75651194	7	5	89	1	0	1	0	1	0	0	0	0	15413	98	4	0	683	0	STYXL1	7	75651194	In_Frame_Del	DEL	ATC	TCGA-IB-A6UG-01A-32D-A33T-08	67525097	75651194	83487469	76	33438											
TRIP6	7205	broad.mit.edu	37	chr7	100465514	100465514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccagggtcaatttttgCccccttccatctgagcagtg	8	15	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:100465514C>T	ENST00000200457.4	+	2	501	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	47					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAATTTTTGCCCCCTTCCAT	0.622																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(139-141)tgC>tgT		thyroid hormone receptor interactor 6							63	75	71					7																	100465514		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100465514C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.141C>T	7.37:g.100465514C>T							p.C47C	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			2	501	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		47					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.141C>T	CCDS5708.1																																																																																				0.622	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		6	951	0	0	0	1	0	6	951					T	100465514	C	T	100465514	2	4	89	1	0	0	0	0	0	0	0	1	16612	747	26	2		2	TRIP6	7	100465514	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	24814320	100465514	58673149	77	33439											
CUX1	1523	broad.mit.edu	37	chr7	101844663	101844663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccggcccagccttcctccGcatccggcagcgggaactct	11	18	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:101844663G>A	ENST00000292535.7	+	18	2124	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A538T|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.A707T|CUX1_ENST00000550008.2_Missense_Mutation_p.A640T|CUX1_ENST00000546411.2_Missense_Mutation_p.A594T|CUX1_ENST00000549414.2_Missense_Mutation_p.A674T|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	696					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						GCCTTCCTCCGCATCCGGCAG	0.642																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2119-2121)Gca>Aca		cut-like homeobox 1							68	77	74					7																	101844663		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101844663G>A	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.2086G>A	7.37:g.101844663G>A	ENSP00000292535:p.Ala696Thr					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A538T|CUX1_ENST00000549414.2_Missense_Mutation_p.A674T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A594T|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.A640T|CUX1_ENST00000292535.7_Missense_Mutation_p.A696T	p.A707T	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2139	+			696					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2119G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.548357	0.00926	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.17;0.2;0.25;0.16;0.25	4.73	-0.261	0.12963	.	0.366176	0.27604	N	0.018632	T	0.22551	0.0544	N	0.05124	-0.11	0.23411	N	0.997737	B;B	0.10296	0.002;0.003	B;B	0.06405	0.0;0.002	T	0.15578	-1.0432	10	0.06099	T	0.92	-2.5629	1.9807	0.03426	0.2937:0.1231:0.4569:0.1264	.	696;707	P39880;P39880-3	CUX1_HUMAN;.	T	707;696;674;640;594;538	ENSP00000353401:A707T;ENSP00000292535:A696T;ENSP00000446630:A674T;ENSP00000447373:A640T;ENSP00000450125:A594T;ENSP00000451558:A538T	ENSP00000292535:A696T	A	+	1	0	CUX1	101631383	0.011000	0.17503	0.000000	0.03702	0.276000	0.26787	0.224000	0.17738	-0.251000	0.09542	-0.140000	0.14226	GCA		0.642	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		6	807	0	0	0	1	0	6	807					A	101844663	G	A	101844663	3	1	89	1	0	0	0	0	1	0	0	0	4075	1087	38	1	2223	1	CUX1	7	101844663	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1379149	101844663	57294000	78	33440											
C7orf58	79974	broad.mit.edu	37	chr7	120770236	120770236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgaattttatgatgtgGcaaatcctgtgggaaatcct	10	6	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:120770236G>A	ENST00000310396.5	+	12	1932	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	CPED1_ENST00000423795.1_Missense_Mutation_p.A269T|CPED1_ENST00000450913.2_Missense_Mutation_p.A489T	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	489						endoplasmic reticulum (GO:0005783)											TTATGATGTGGCAAATCCTGT	0.373																																						ENST00000310396.5																			0											c.(1465-1467)Gca>Aca		cadherin-like and PC-esterase domain containing 1							149	142	144					7																	120770236		2203	4300	6503	SO:0001583	missense	79974							g.chr7:120770236G>A		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.1465G>A	7.37:g.120770236G>A	ENSP00000309772:p.Ala489Thr					CPED1_ENST00000423795.1_Missense_Mutation_p.A269T|CPED1_ENST00000450913.2_Missense_Mutation_p.A489T	p.A489T	NM_024913.4	NP_079189.4					12	1932	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1465G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563742	0.27915	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.46819	2.2;0.86;1.88;1.84;1.42	5.49	2.7	0.31948	.	0.681813	0.14243	N	0.331940	T	0.34366	0.0895	L	0.36672	1.1	0.09310	N	0.999997	B;B;B	0.17667	0.005;0.023;0.002	B;B;B	0.13407	0.009;0.007;0.007	T	0.19257	-1.0311	10	0.21540	T	0.41	.	8.9922	0.36030	0.2284:0.0:0.7716:0.0	.	269;489;489	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	T	489;489;489;269;269	ENSP00000309772:A489T;ENSP00000398082:A489T;ENSP00000406122:A489T;ENSP00000415573:A269T;ENSP00000391952:A269T	ENSP00000309772:A489T	A	+	1	0	C7orf58	120557472	0.123000	0.22298	0.001000	0.08648	0.762000	0.43233	1.419000	0.34793	0.804000	0.34136	0.557000	0.71058	GCA		0.373	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		5	494	0	0	0	1	0	5	494					A	120770236	G	A	120770236	3	1	89	1	0	0	0	0	1	0	0	0	2412	1203	42	2	1507	2	C7orf58	7	120770236	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	18925573	120770236	38368427	79	33441											
SSPO	23145	broad.mit.edu	37	chr7	149500902	149500902	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgagggccaggttcagGtgtgcgacaggggtggacgg	22	6	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:149500902G>T	ENST00000378016.2	+	0	8219							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)			CCAGGTTCAGGTGTGCGACAG	0.697																																						ENST00000378016.2																			0													SCO-spondin							19	24	22					7																	149500902		2090	4213	6303			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500902G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500902G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8219	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				25	104	1	0	3.6726e-16	1	3.85623e-16	25	104					T	149500902	G	T	149500902	1	4	89	0	1	0	0	0	0	0	0	0	15241	1275	44	3		3	SSPO	7	149500902	RNA	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	28730666	149500902	9637761	80	33442											
MLL3	58508	broad.mit.edu	37	chr7	151945602	151945602	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatcttcaatttgatcttcGccacaaatatgcttcacttc	3	11	4	1	rs202125566		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:151945602G>A	ENST00000262189.6	-	14	2135	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	KMT2C_ENST00000355193.2_Silent_p.G639G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	639					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)										TTTGATCTTCGCCACAAATAT	0.373																																						ENST00000355193.2																			0											c.(1915-1917)ggC>ggT		lysine (K)-specific methyltransferase 2C							61	58	59					7																	151945602		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151945602G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1917C>T	7.37:g.151945602G>A						KMT2C_ENST00000262189.6_Silent_p.G639G	p.G639G							14	2135	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1917C>T	CCDS5931.1																																																																																				0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	289	0	0	0	1	0	6	289					A	151945602	G	A	151945602	2	1	89	1	0	0	0	0	0	0	0	1	9663	1074	38	1		1	MLL3	7	151945602	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2444700	151945602	7193061	81	33443											
XRCC2	7516	broad.mit.edu	37	chr7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-													tgctactactgcagtacaccAaaaaaaatcttcccaggcag							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	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	117					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)	p.V118fs*5(1)		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)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79	80	80					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	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.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		7	452						7	452	---	---	---	---	-	152346220	A	-	152346220	7	5	89	1	0	1	0	1	0	0	0	0	17507	131	5	0	496	0	XRCC2	7	152346220	Frame_Shift_Del	DEL	A	TCGA-IB-A6UG-01A-32D-A33T-08	400618	152346220	6792443	82	33444											
ADRA1A	148	broad.mit.edu	37	chr8	26627895	26627895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccattcacaaacgccatccGtcttggagatcctgtagaag	8	12	2	2	rs151273238	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:26627895G>A	ENST00000519229.1	-	2	1178	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380573.3_Missense_Mutation_p.T391M			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	349					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)	AACGCCATCCGTCTTGGAGAT	0.562													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18274	0.001		0.0	False		,,,				2504	0.001					ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1171-1173)aCg>aTg		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	G	MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	122	118	120		1172,1172,1172,1172	5.1	1	8	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ADRA1A	NM_000680.2,NM_033302.2,NM_033303.3,NM_033304.2	81,81,81,81	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	391/467,391/430,391/476,391/456	26627895	4,13002	2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627895G>A	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.1172C>T	8.37:g.26627895G>A	ENSP00000430793:p.Thr391Met					ADRA1A_ENST00000519229.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M	p.T391M			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2195	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	391					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1172C>T		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	14.75	2.627392	0.46944	4.54E-4	2.33E-4	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62941	2.02;0.07;0.05;-0.01;0.06;0.06	5.96	5.06	0.68205	.	0.667620	0.14213	N	0.333955	T	0.64159	0.2573	L	0.51422	1.61	0.80722	D	1	P;P;P;D	0.54772	0.521;0.954;0.851;0.968	B;P;B;B	0.46049	0.128;0.502;0.332;0.374	T	0.67122	-0.5750	10	0.72032	D	0.01	.	16.2148	0.82198	0.0:0.0:0.8577:0.1423	.	391;391;391;391	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	M	391	ENSP00000369960:T391M;ENSP00000369956:T391M;ENSP00000430793:T391M;ENSP00000346557:T391M;ENSP00000276393:T391M;ENSP00000369947:T391M	ENSP00000276393:T391M	T	-	2	0	ADRA1A	26683812	1.000000	0.71417	0.954000	0.39281	0.837000	0.47467	4.852000	0.62904	1.445000	0.47624	0.655000	0.94253	ACG		0.562	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		74	566	0	0	0	1	0	74	566					A	26627895	G	A	26627895	3	1	89	1	0	0	0	0	1	0	0	0	334	1145	40	1	523	1	ADRA1A	8	26627895	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		26627895	119736127	83	33445											
FZD3	7976	broad.mit.edu	37	chr8	28385210	28385210	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtaattcttaccatcacatgGtttttagcagctgtgccaaa	7	9	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:28385210G>T	ENST00000240093.3	+	5	1411	c.933G>T	c.(931-933)tgG>tgT	p.W311C	FZD3_ENST00000537916.1_Missense_Mutation_p.W311C|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	311					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	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(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCATCACATGGTTTTTAGCAG	0.433																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(931-933)tgG>tgT		frizzled family receptor 3							118	113	115					8																	28385210		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385210G>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.933G>T	8.37:g.28385210G>T	ENSP00000240093:p.Trp311Cys					FZD3_ENST00000537916.1_Missense_Mutation_p.W311C	p.W311C	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1411	+		Ovarian(32;2.06e-05)	311					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.933G>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476133	0.63737	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	17.5384	0.87840	0.0:0.0:1.0:0.0	.	311	Q9NPG1	FZD3_HUMAN	C	311	ENSP00000437489:W311C;ENSP00000240093:W311C	ENSP00000240093:W311C	W	+	3	0	FZD3	28441129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.482000	0.83794	0.563000	0.77884	TGG		0.433	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		53	379	1	0	9.59449e-18	1	1.01523e-17	53	379					T	28385210	G	T	28385210	3	4	89	1	0	0	0	0	1	0	0	0	6158	1270	44	3	943	3	FZD3	8	28385210	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1757315	28385210	117978812	84	33446											
RGS20	8601	broad.mit.edu	37	chr8	54793583	54793583	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccgcgggacgcatgcgcaCggcggacggaggcgagccgg	19	14	0	0	rs574141651		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:54793583C>T	ENST00000297313.3	+	2	602				RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000276500.4_Missense_Mutation_p.T3M	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20						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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CGCATGCGCACGGCGGACGGA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10392	0.0		0.0	False		,,,				2504	0.0					ENST00000276500.4																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(7-9)aCg>aTg		regulator of G-protein signaling 20							7	10	9					8																	54793583		1925	3953	5878	SO:0001627	intron_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54793583C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.510+1421C>T	8.37:g.54793583C>T						RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000297313.3_Intron	p.T3M	NM_003702.3	NP_003693.2	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		1	130	+			0					Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.8C>T	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835896	0.50951	.	.	ENSG00000147509	ENST00000276500	T	0.39229	1.09	3.61	1.8	0.24995	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.19300	N	0.999972	B	0.32893	0.389	B	0.21546	0.035	T	0.20672	-1.0268	8	0.87932	D	0	.	3.9867	0.09519	0.0:0.5796:0.1979:0.2225	.	3	O76081-6	.	M	3	ENSP00000276500:T3M	ENSP00000276500:T3M	T	+	2	0	RGS20	54956136	0.435000	0.25577	0.989000	0.46669	0.511000	0.34104	0.403000	0.20982	0.514000	0.28300	-0.291000	0.09656	ACG		0.672	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			16	102	0	0	0	1	0	16	102					T	54793583	C	T	54793583	1	4	89	0	1	0	0	0	0	0	0	0	13353	536	19	1		1	RGS20	8	54793583	Intron	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	26408373	54793583	91570439	85	33447											
MRPL15	29088	broad.mit.edu	37	chr8	55049226	55049226	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttaacgaaggacatagGtaaggttgctttgcttttta	12	4	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:55049226G>A	ENST00000260102.4	+	2	337		c.e2+1			NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15						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)			AAGGACATAGGTAAGGTTGCT	0.418																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.e2+1		mitochondrial ribosomal protein L15							68	72	71					8																	55049226		2203	4300	6503	SO:0001630	splice_region_variant	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049226G>A	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.263+1G>A	8.37:g.55049226G>A								NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		2	337	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)						Q96Q54|Q9H0Y1	Splice_Site	SNP	ENST00000260102.4	37		CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645927	0.67358	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.05	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9287	0.70898	0.0:0.0:0.8558:0.1441	.	.	.	.	.	-1	.	.	.	+	.	.	MRPL15	55211779	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.855000	0.99526	1.326000	0.45319	-0.181000	0.13052	.		0.418	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175	Intron	80	413	0	0	0	1	0	80	413					A	55049226	G	A	55049226	5	1	89	1	0	0	0	0	0	0	1	0	9821	1275	44	2	270	2	MRPL15	8	55049226	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	255643	55049226	91314796	86	33448											
MMP16	4325	broad.mit.edu	37	chr8	89198805	89198805	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtctggtcaggtacacCgcatcggggcttcttcatcc	10	13	5	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:89198805C>T	ENST00000286614.6	-	3	585	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	102					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)	TCAGGTACACCGCATCGGGGC	0.378																																						ENST00000286614.6																			0				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						c.(304-306)Ggt>Agt		matrix metallopeptidase 16 (membrane-inserted)							168	149	155					8																	89198805		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89198805C>T	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.304G>A	8.37:g.89198805C>T	ENSP00000286614:p.Gly102Ser					MMP16_ENST00000544227.1_5'UTR	p.G102S	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			3	585	-			102					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.304G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102432	0.94245	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.65549	-0.16;-0.16	5.72	5.72	0.89469	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.985	T	0.79757	-0.1669	10	0.41790	T	0.15	.	19.8778	0.96885	0.0:1.0:0.0:0.0	.	102;102	P51512-2;P51512	.;MMP16_HUMAN	S	102;119	ENSP00000286614:G102S;ENSP00000429147:G119S	ENSP00000286614:G102S	G	-	1	0	MMP16	89267921	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.710000	0.92621	0.585000	0.79938	GGT		0.378	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		50	762	0	0	0	1	0	50	762					T	89198805	C	T	89198805	3	4	89	1	0	0	0	0	1	0	0	0	9696	652	23	1	1707	1	MMP16	8	89198805	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	34149579	89198805	57165217	87	33449											
RAD54B	25788	broad.mit.edu	37	chr8	95419794	95419794	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcaacctgagaagaatgCgagatagcagtacttcctcc	10	11	0	3	rs113276250	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:95419794C>T	ENST00000336148.5	-	5	778	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	218					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)			GAGAAGAATGCGAGATAGCAG	0.398								Direct reversal of damage;Homologous recombination					C|||	12	0.00239617	0.0076	0.0029	5008	,	,		15352	0.0		0.0	False		,,,				2504	0.0					ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(652-654)tcG>tcA	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)		C	,	34,4372	39.2+/-71.8	0,34,2169	111	110	110		102,654	2.6	0	8	dbSNP_132	110	1,8599		0,1,4299	yes	coding-synonymous,coding-synonymous	RAD54B	NM_001205263.1,NM_012415.3	,	0,35,6468	TT,TC,CC		0.0116,0.7717,0.2691	,	34/727,218/911	95419794	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95419794C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.654G>A	8.37:g.95419794C>T							p.S218S	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		5	778	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.654G>A	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		5	469	0	0	0	1	0	5	469					T	95419794	C	T	95419794	2	4	89	1	0	0	0	0	0	0	0	1	13042	755	27	1		1	RAD54B	8	95419794	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	6220989	95419794	50944228	88	33450											
FER1L6	654463	broad.mit.edu	37	chr8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagtggcctatgcccGcatcgcctccaaagacctcc	10	16	0	2	rs371597054		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	734						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)			GCCTATGCCCGCATCGCCTCC	0.527																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2200-2202)cGc>cAc		fer-1-like 6 (C. elegans)		G	HIS/ARG	0,3952		0,0,1976	100	103	102		2201	5.8	1	8		102	1,8321		0,1,4160	no	missense	FER1L6	NM_001039112.2	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	734/1858	125035751	1,12273	1976	4161	6137	SO:0001583	missense	654463					integral to membrane		g.chr8:125035751G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2201G>A	8.37:g.125035751G>A	ENSP00000428280:p.Arg734His					FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	p.R734H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2407	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		734						Missense_Mutation	SNP	ENST00000522917.1	37	c.2201G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971850	0.92919	0.0	1.2E-4	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79352	-1.26;-1.26	5.81	5.81	0.92471	Ferlin B-domain (1);	0.162857	0.34435	U	0.003970	D	0.89550	0.6747	M	0.91663	3.23	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	D	0.91017	0.4854	10	0.72032	D	0.01	.	12.8851	0.58038	0.0779:0.0:0.9221:0.0	.	734	Q2WGJ9	FR1L6_HUMAN	H	734	ENSP00000428280:R734H;ENSP00000381982:R734H	ENSP00000381982:R734H	R	+	2	0	FER1L6	125104932	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	9.072000	0.93986	2.751000	0.94390	0.555000	0.69702	CGC		0.527	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	695	0	0	0	1	0	8	695					A	125035751	G	A	125035751	3	1	89	1	0	0	0	0	1	0	0	0	5840	1087	38	1	2267	1	FER1L6	8	125035751	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	29615957	125035751	21328271	89	33451											
COL22A1	169044	broad.mit.edu	37	chr8	139737642	139737642	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtcttaccggagaacctccCggtccaggggggcctgggac	15	13	1	1	rs367667199		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:139737642C>T	ENST00000303045.6	-	24	2627	c.2181G>A	c.(2179-2181)ccG>ccA	p.P727P	COL22A1_ENST00000435777.1_Silent_p.P727P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	727	Collagen-like 5.|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)			GAGAACCTCCCGGTCCAGGGG	0.582										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2179-2181)ccG>ccA		collagen, type XXII, alpha 1		C		1,4405	2.1+/-5.4	0,1,2202	59	66	63		2181	-9.9	0.6	8		63	0,8600		0,0,4300	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		727/1627	139737642	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139737642C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2181G>A	8.37:g.139737642C>T		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.P727P	p.P727P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		24	2627	-	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)		727			Collagen-like 5.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.2181G>A	CCDS6376.1																																																																																				0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		170	539	0	0	0	1	0	170	539					T	139737642	C	T	139737642	2	4	89	1	0	0	0	0	0	0	0	1	3690	639	23	1		1	COL22A1	8	139737642	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	14701891	139737642	6626380	90	33452											
KIAA1432	57589	broad.mit.edu	37	chr9	5765691	5765691	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcaagtggtggatttgagttCttcaggaatcgaagcatcag	12	6	4	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:5765691C>T	ENST00000414202.2	+	21	3221	c.3030C>T	c.(3028-3030)ttC>ttT	p.F1010F	KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000381532.2_Silent_p.F931F|KIAA1432_ENST00000449720.2_Silent_p.F894F|KIAA1432_ENST00000418622.3_Silent_p.F931F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATTTGAGTTCTTCAGGAATC	0.433																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(3028-3030)ttC>ttT		KIAA1432							235	230	232					9																	5765691		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5765691C>T																												ENST00000414202.2:c.3030C>T	9.37:g.5765691C>T						KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000381532.2_Silent_p.F931F|KIAA1432_ENST00000449720.2_Silent_p.F894F|KIAA1432_ENST00000418622.3_Silent_p.F931F	p.F1010F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	21	3221	+		Acute lymphoblastic leukemia(23;0.154)	1010						Silent	SNP	ENST00000414202.2	37	c.3030C>T	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173584	0.21704	.	.	ENSG00000107036	ENST00000545641	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.77336	0.4115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	-18.4469	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	F	902	.	.	L	+	1	0	KIAA1432	5755691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.004000	0.49513	2.873000	0.98535	0.563000	0.77884	CTT		0.433	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			98	855	0	0	0	1	0	98	855					T	5765691	C	T	5765691	2	4	89	1	0	0	0	0	0	0	0	1	8263	912	32	2		2	KIAA1432	9	5765691	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		5765691	135447740	91	33453											
PTPRD	5789	broad.mit.edu	37	chr9	8518207	8518207	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgcccaatgttattgacaGcaacaaccctgaattcataa	5	13	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:8518207G>A	ENST00000381196.4	-	18	1727	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V	PTPRD_ENST00000397606.3_Missense_Mutation_p.A385V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A395V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A395V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A392V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A392V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A382V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A382V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A395V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A395V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A385V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	395	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)		GTTATTGACAGCAACAACCCT	0.527										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1183-1185)gCt>gTt		protein tyrosine phosphatase, receptor type, D							142	141	141					9																	8518207		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518207G>A	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.1184C>T	9.37:g.8518207G>A	ENSP00000370593:p.Ala395Val	TSP Lung(15;0.13)				PTPRD_ENST00000397617.3_Missense_Mutation_p.A385V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A395V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A382V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A392V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A382V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A395V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A395V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A395V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A385V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A392V	p.A395V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	1727	-		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)	395			Fibronectin type-III 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1184C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814087	0.70912	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	H	0.96239	3.79	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;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.996;0.994;0.969;0.999;0.946	D	0.92021	0.5626	9	.	.	.	.	18.6464	0.91411	0.0:0.0:1.0:0.0	.	385;389;395;395;392;392;382;395;395	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	395;395;382;382;395;385;392;392;395;395;395;385	ENSP00000370593:A395V;ENSP00000348812:A395V;ENSP00000353187:A382V;ENSP00000351293:A382V;ENSP00000347373:A395V;ENSP00000380741:A385V;ENSP00000380735:A392V;ENSP00000440515:A392V;ENSP00000438164:A395V;ENSP00000417093:A395V;ENSP00000380731:A385V	.	A	-	2	0	PTPRD	8508207	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	9.807000	0.99171	2.392000	0.81423	0.460000	0.39030	GCT		0.527	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	776	0	0	0	1	0	6	776					A	8518207	G	A	8518207	3	1	89	1	0	0	0	0	1	0	0	0	12849	971	34	2	4726	2	PTPRD	9	8518207	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2752516	8518207	132695224	92	33454											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	23	8	0	1	rs121913388		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; 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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11	14	13					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	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.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		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)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		42	88	0	0	0	1	0	42	88					A	21971120	G	A	21971120	4	1	89	1	0	0	0	0	0	1	0	0	3170	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	13452913	21971120	119242311	93	33455											
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	13	11	3	2	rs575911571		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					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						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353	352	353					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	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.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		10	1785	0	0	0	1	0	10	1785					T	116049072	C	T	116049072	3	4	89	1	0	0	0	0	1	0	0	0	12617	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	94077952	116049072	25164359	94	33456											
COL27A1	85301	broad.mit.edu	37	chr9	117029789	117029789	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttttctttcaggggccGcctggtgcagtgggagaacc	16	10	2	1	rs377713952		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:117029789G>A	ENST00000356083.3	+	34	3844	c.3453G>A	c.(3451-3453)ccG>ccA	p.P1151P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1151	Collagen-like 9.|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						TTCAGGGGCCGCCTGGTGCAG	0.562																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3451-3453)ccG>ccA		collagen, type XXVII, alpha 1		G		1,4405	2.1+/-5.4	0,1,2202	67	73	71		3453	-10.2	0	9		71	0,8600		0,0,4300	no	coding-synonymous	COL27A1	NM_032888.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1151/1861	117029789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117029789G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3453G>A	9.37:g.117029789G>A							p.P1151P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			34	3844	+			1151			Collagen-like 9.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.3453G>A	CCDS6802.1																																																																																				0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		20	202	0	0	0	1	0	20	202					A	117029789	G	A	117029789	2	1	89	1	0	0	0	0	0	0	0	1	3694	1074	38	1		1	COL27A1	9	117029789	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	980717	117029789	24183642	95	33457											
CEP110	11064	broad.mit.edu	37	chr9	123927306	123927306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtcagaaaactgcagcagGaactagaccaactaaacaga	8	9	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:123927306G>A	ENST00000373855.1	+	35	5769	c.5509G>A	c.(5509-5511)Gaa>Aaa	p.E1837K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1285K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1837K			Q7Z7A1	CNTRL_HUMAN	centriolin	1837					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						ACTGCAGCAGGAACTAGACCA	0.408																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(5509-5511)Gaa>Aaa		centriolin							99	89	93					9																	123927306		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123927306G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5509G>A	9.37:g.123927306G>A	ENSP00000362962:p.Glu1837Lys					CNTRL_ENST00000238341.5_Missense_Mutation_p.E1837K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1285K	p.E1837K			Q7Z7A1	CNTRL_HUMAN			35	5769	+			1837					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5509G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339302	0.95783	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.43294	1.2;1.2;0.95	5.8	5.8	0.92144	.	.	.	.	.	T	0.64461	0.2600	M	0.65498	2.005	0.50171	D	0.999853	D	0.69078	0.997	D	0.75020	0.985	T	0.62048	-0.6936	9	0.48119	T	0.1	.	19.0575	0.93072	0.0:0.0:1.0:0.0	.	1837	Q7Z7A1	CNTRL_HUMAN	K	1837;1837;1837;593;19;1285;519	ENSP00000362962:E1837K;ENSP00000238341:E1837K;ENSP00000362956:E1285K	ENSP00000238341:E1837K	E	+	1	0	CNTRL	122967127	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.929000	0.56514	2.758000	0.94735	0.563000	0.77884	GAA		0.408	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		23	255	0	0	0	1	0	23	255					A	123927306	G	A	123927306	3	1	89	1	0	0	0	0	1	0	0	0	3254	1175	41	2	5639	2	CEP110	9	123927306	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	6897517	123927306	17286125	96	33458											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508147	37508147	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caatatagtgggcagcttaaAgttctgatagctgagaacac	10	7	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:37508147A>T	ENST00000602533.1	+	34	3438	c.3339A>T	c.(3337-3339)aaA>aaT	p.K1113N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K1232N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1113N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1169					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						GGCAGCTTAAAGTTCTGATAG	0.353																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3694-3696)aaA>aaT		ankyrin repeat domain 30A							121	121	121					10																	37508147		1835	4081	5916	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508147A>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3339A>T	10.37:g.37508147A>T	ENSP00000473551:p.Lys1113Asn					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K1113N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1113N	p.K1232N			Q9BXX3	AN30A_HUMAN			40	3795	+			1170					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3696A>T		.	.	.	.	.	.	.	.	.	.	a	0	-2.770045	0.00081	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.11385	2.78;2.78	2.81	-1.34	0.09143	.	.	.	.	.	T	0.03011	0.0089	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41288	-0.9517	9	0.02654	T	1	.	0.8546	0.01179	0.1973:0.1254:0.1857:0.4916	.	1169	Q9BXX3	AN30A_HUMAN	N	1113;1232	ENSP00000354432:K1113N;ENSP00000363792:K1232N	ENSP00000354432:K1113N	K	+	3	2	ANKRD30A	37548153	0.893000	0.30496	0.000000	0.03702	0.001000	0.01503	1.090000	0.30902	-0.603000	0.05767	-0.457000	0.05445	AAA		0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		130	641	0	0	0	1	0	130	641					T	37508147	A	T	37508147	3	4	89	1	0	0	0	0	1	0	0	0	658	69	3	5	3473	5	ANKRD30A	10	37508147	Missense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08		37508147	98026600	97	33459											
NEUROG3	50674	broad.mit.edu	37	chr10	71332359	71332359	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcggctccagcgcGtacaagctgtggtccgctat	15	14	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:71332359G>A	ENST00000242462.4	-	2	470	c.441C>T	c.(439-441)taC>taT	p.Y147Y		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	147					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GCTCCAGCGCGTACAAGCTGT	0.682																																						ENST00000242462.4																			0				endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(439-441)taC>taT		neurogenin 3							34	35	34					10																	71332359		2203	4300	6503	SO:0001819	synonymous_variant	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332359G>A	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.441C>T	10.37:g.71332359G>A							p.Y147Y	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	470	-			147					Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	ENST00000242462.4	37	c.441C>T	CCDS31212.1																																																																																				0.682	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		5	231	0	0	0	1	0	5	231					A	71332359	G	A	71332359	2	1	89	1	0	0	0	0	0	0	0	1	10396	1140	40	1		1	NEUROG3	10	71332359	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	33824212	71332359	64202388	98	33460											
CYP2C9	1559	broad.mit.edu	37	chr10	96748637	96748637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggagaagccctggccgGcatggagctgtttttattcc	14	9	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:96748637G>A	ENST00000260682.6	+	9	1337	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	442					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)	GCCCTGGCCGGCATGGAGCTG	0.453																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1324-1326)gGc>gAc		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						156	145	149					10																	96748637		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96748637G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1325G>A	10.37:g.96748637G>A	ENSP00000260682:p.Gly442Asp						p.G442D	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	9	1337	+		Colorectal(252;0.0902)	442					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.1325G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	9.583	1.123983	0.20959	.	.	ENSG00000138109	ENST00000260682	T	0.67865	-0.29	3.41	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.41903	0.1179	N	0.04508	-0.205	0.23425	N	0.997706	B;B	0.17465	0.022;0.022	B;B	0.14578	0.011;0.011	T	0.42932	-0.9422	10	0.87932	D	0	.	9.6892	0.40118	0.0:0.0:0.7903:0.2097	.	442;442	Q5VX92;P11712	.;CP2C9_HUMAN	D	442	ENSP00000260682:G442D	ENSP00000260682:G442D	G	+	2	0	CYP2C9	96738627	1.000000	0.71417	0.996000	0.52242	0.064000	0.16182	6.266000	0.72540	0.741000	0.32674	0.446000	0.29264	GGC		0.453	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		6	677	0	0	0	1	0	6	677					A	96748637	G	A	96748637	3	1	89	1	0	0	0	0	1	0	0	0	4179	1203	42	2	1359	2	CYP2C9	10	96748637	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	25416278	96748637	38786110	99	33461											
HPS1	3257	broad.mit.edu	37	chr10	100185374	100185374	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacgaggggctgggagCgcagggaggccccgggctcc	18	15	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:100185374C>T	ENST00000325103.6	-	13	1492	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R420H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	420					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)		GGGCTGGGAGCGCAGGGAGGC	0.637									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1258-1260)cGc>cAc		Hermansky-Pudlak syndrome 1							48	41	43					10																	100185374		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100185374C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1259G>A	10.37:g.100185374C>T	ENSP00000326649:p.Arg420His		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	HPS1_ENST00000361490.4_Missense_Mutation_p.R420H|HPS1_ENST00000467246.1_5'UTR	p.R420H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	13	1492	-		Colorectal(252;0.234)	420					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1259G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916483	0.73098	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632	T;T;T	0.33438	1.41;1.41;1.41	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.999;1.0	T	0.60125	-0.7324	10	0.48119	T	0.1	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	58;387;420;420	Q658M9;Q92902-2;Q8WXE5;D3DR62	.;.;.;.	H	420;420;387;215	ENSP00000326649:R420H;ENSP00000355310:R420H;ENSP00000352652:R215H	ENSP00000326649:R420H	R	-	2	0	HPS1	100175364	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.418000	0.66429	2.524000	0.85096	0.561000	0.74099	CGC		0.637	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		25	167	0	0	0	1	0	25	167					T	100185374	C	T	100185374	3	4	89	1	0	0	0	0	1	0	0	0	7369	768	27	1	875	1	HPS1	10	100185374	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3436737	100185374	35349373	100	33462											
PPRC1	23082	broad.mit.edu	37	chr10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggcagggccgccgaggccGcaacagccgttctgtcagct	14	15	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|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)		CGCCGAGGCCGCAACAGCCGT	0.627																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4273-4275)cGc>cAc		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77	69	71					10																	103907023		2203	4298	6501	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907023G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4274G>A	10.37:g.103907023G>A	ENSP00000278070:p.Arg1425His					PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	p.R1425H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4313	+		Colorectal(252;0.122)	1425			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4274G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149221	0.21288	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.37915	1.55;1.17	5.04	3.19	0.36642	.	0.407952	0.26903	N	0.021907	T	0.26011	0.0634	L	0.31926	0.97	0.80722	D	1	B;B	0.19817	0.039;0.023	B;B	0.17433	0.018;0.005	T	0.04454	-1.0950	10	0.21014	T	0.42	.	11.9659	0.53035	0.1434:0.0:0.8566:0.0	.	1305;1425	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1425;392	ENSP00000278070:R1425H;ENSP00000359029:R392H	ENSP00000278070:R1425H	R	+	2	0	PPRC1	103897013	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.955000	0.49121	0.805000	0.34159	-0.379000	0.06801	CGC		0.627	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		6	509	0	0	0	1	0	6	509					A	103907023	G	A	103907023	3	1	89	1	0	0	0	0	1	0	0	0	12457	1087	38	1	4308	1	PPRC1	10	103907023	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3721649	103907023	31627724	101	33463											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105363099	105363099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctctgcatatggccGgaagccctcattctcataga	10	12	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	626					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)		GCATATGGCCGGAAGCCCTCA	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1876-1878)Cgg>Tgg		SH3 and PX domains 2A							78	85	83					10																	105363099		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363099G>A	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.1876C>T	10.37:g.105363099G>A	ENSP00000358789:p.Arg626Trp					SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000315994.6_5'UTR	p.R626W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2152	-		Colorectal(252;0.0815)|Breast(234;0.131)	626					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1876C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.990608|2.990608	0.54041|0.54041	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.65916	.|-0.09;-0.18;0.02;-0.18	5.42|5.42	2.32|2.32	0.28847|0.28847	.|.	.|0.137701	.|0.64402	.|D	.|0.000007	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D	.|0.76494	.|0.998;0.998;0.998;0.999	.|P;P;P;D	.|0.65443	.|0.863;0.863;0.863;0.935	T|T	0.74287|0.74287	-0.3714|-0.3714	5|10	.|0.72032	.|D	.|0.01	-25.2151|-25.2151	15.2853|15.2853	0.73822|0.73822	0.0:0.0:0.3321:0.6679|0.0:0.0:0.3321:0.6679	.|.	.|626;475;471;598	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	L|W	552|626;598;433;541;493;461	.|ENSP00000358789:R626W;ENSP00000348215:R598W;ENSP00000443663:R493W;ENSP00000441514:R461W	.|ENSP00000318135:R433W	P|R	-|-	2|1	0|2	SH3PXD2A|SH3PXD2A	105353089|105353089	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	1.336000|1.336000	0.33850|0.33850	0.168000|0.168000	0.19655|0.19655	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	854	0	0	0	1	0	5	854					A	105363099	G	A	105363099	3	1	89	1	0	0	0	0	1	0	0	0	14306	1115	39	1	1529	1	SH3PXD2A	10	105363099	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1456076	105363099	30171648	102	33464											
SFXN4	119559	broad.mit.edu	37	chr10	120905815	120905815	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccattgccaggacagtacaaGacagtttcaaaatccacaat	6	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:120905815G>C	ENST00000355697.2	-	13	888	c.869C>G	c.(868-870)tCt>tGt	p.S290C	SFXN4_ENST00000330036.6_Missense_Mutation_p.S281C|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	290					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GACAGTACAAGACAGTTTCAA	0.433																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(868-870)tCt>tGt		sideroflexin 4							155	144	148					10																	120905815		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120905815G>C		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.869C>G	10.37:g.120905815G>C	ENSP00000347924:p.Ser290Cys					SFXN4_ENST00000330036.6_Missense_Mutation_p.S281C|SFXN4_ENST00000461438.1_5'UTR	p.S290C	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	13	888	-		Lung NSC(174;0.094)|all_lung(145;0.123)	290					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.869C>G	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123757	0.37436	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T	0.30182	1.54;1.54	5.07	2.86	0.33363	.	0.835144	0.10718	N	0.642040	T	0.36331	0.0963	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	P	0.56788	0.806	T	0.21724	-1.0237	10	0.38643	T	0.18	-13.2476	2.1131	0.03708	0.1085:0.1772:0.4529:0.2614	.	290	Q6P4A7	SFXN4_HUMAN	C	290;281;173;174	ENSP00000347924:S290C;ENSP00000333200:S281C	ENSP00000333200:S281C	S	-	2	0	SFXN4	120895805	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	1.193000	0.32162	1.240000	0.43803	0.650000	0.86243	TCT		0.433	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		93	452	0	0	0	1	0	93	452					C	120905815	G	C	120905815	3	2	89	1	0	0	0	0	1	0	0	0	14247	942	33	5	152	5	SFXN4	10	120905815	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	15542716	120905815	14628932	103	33465											
PTPRE	5791	broad.mit.edu	37	chr10	129871718	129871718	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgtgatgctgacggagGtgcaggagagagagcaggtg	18	6	0	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:129871718G>T	ENST00000254667.3	+	17	1861	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	PTPRE_ENST00000419012.2_Missense_Mutation_p.V528L|PTPRE_ENST00000306042.5_Missense_Mutation_p.V470L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	528	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GCTGACGGAGGTGCAGGAGAG	0.597																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1582-1584)Gtg>Ttg		protein tyrosine phosphatase, receptor type, E							99	84	89					10																	129871718		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129871718G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1582G>T	10.37:g.129871718G>T	ENSP00000254667:p.Val528Leu					PTPRE_ENST00000419012.2_Missense_Mutation_p.V528L|PTPRE_ENST00000306042.5_Missense_Mutation_p.V470L	p.V528L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			17	1861	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	528			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1582G>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649108	0.03506	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.09538	2.97;2.97;2.97	4.75	2.82	0.32997	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.089012	0.46758	D	0.000262	T	0.01489	0.0048	N	0.00047	-2.435	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.42137	-0.9469	10	0.02654	T	1	.	8.7131	0.34395	0.0777:0.286:0.6363:0.0	.	506;528;470;528	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	L	528;506;528;470	ENSP00000254667:V528L;ENSP00000402337:V528L;ENSP00000303350:V470L	ENSP00000254667:V528L	V	+	1	0	PTPRE	129761708	1.000000	0.71417	0.989000	0.46669	0.609000	0.37215	2.058000	0.41374	0.557000	0.29117	0.563000	0.77884	GTG		0.597	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			32	156	1	0	3.76114e-14	1	3.93406e-14	32	156					T	129871718	G	T	129871718	3	4	89	1	0	0	0	0	1	0	0	0	12850	1261	44	3	1679	3	PTPRE	10	129871718	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8965903	129871718	5663029	104	33466											
PWWP2B	170394	broad.mit.edu	37	chr10	134218205	134218205	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcaacgacagccatggCcgggctcccgaggaggggga	16	13	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:134218205C>T	ENST00000305233.5	+	2	260	c.201C>T	c.(199-201)ggC>ggT	p.G67G	PWWP2B_ENST00000368609.4_Silent_p.G67G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	67										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		ACAGCCATGGCCGGGCTCCCG	0.697																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(199-201)ggC>ggT		PWWP domain containing 2B							80	89	86					10																	134218205		2136	4275	6411	SO:0001819	synonymous_variant	170394							g.chr10:134218205C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.201C>T	10.37:g.134218205C>T						PWWP2B_ENST00000368609.4_Silent_p.G67G	p.G67G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	260	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	67					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.201C>T	CCDS7667.2																																																																																				0.697	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		6	850	0	0	0	1	0	6	850					T	134218205	C	T	134218205	2	4	89	1	0	0	0	0	0	0	0	1	12896	726	26	2		2	PWWP2B	10	134218205	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	4346487	134218205	1316542	105	33467											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605916	1605916	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccttggatcccccacaagaAccgcagccccccttgcagcc	7	21	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:1605916A>G	ENST00000382171.2	-	1	597	c.564T>C	c.(562-564)ggT>ggC	p.G188G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	188	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)		CCCCACAAGAACCGCAGCCCC	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(562-564)ggT>ggC		keratin associated protein 5-1							39	52	47					11																	1605916		2202	4298	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1605916A>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.564T>C	11.37:g.1605916A>G						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G188G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	597	-		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)	188			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.564T>C	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		5	469	0	0	0	1	0	5	469					G	1605916	A	G	1605916	2	3	89	1	0	0	0	0	0	0	0	1	8589	30	2	4		4	KRTAP5-1	11	1605916	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08		1605916	133400600	106	33468											
INS	723961	broad.mit.edu	37	chr11	2182109	2182109	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttccaccaggtgtgagccGcacaggtgttggttcacaaa	12	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000381330.4_Silent_p.C31C	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	31						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652																																						ENST00000397270.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(91-93)tgC>tgT									52	52	52					11																	2182109		2200	4299	6499	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182109G>A	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.93C>T	11.37:g.2182109G>A						INS_ENST00000381330.4_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C	p.C31C	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	151	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	31					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.93C>T	CCDS41598.1																																																																																				0.652	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		5	374	0	0	0	1	0	5	374					A	2182109	G	A	2182109	2	1	89	1	0	0	0	0	0	0	0	1	7792	1079	38	1		1	INS	11	2182109	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	576193	2182109	132824407	107	33469											
OR51A4	401666	broad.mit.edu	37	chr11	4967530	4967530	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgaggggagagacatgCcgggcaaagcggtggacaac	16	7	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:4967530C>T	ENST00000380373.2	-	1	826	c.801G>A	c.(799-801)cgG>cgA	p.R267R	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	267			R -> G (in dbSNP:rs2595988).			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)		GAGAGACATGCCGGGCAAAGC	0.448																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(799-801)cgG>cgA		olfactory receptor, family 51, subfamily A, member 4							174	167	169					11																	4967530		2200	4298	6498	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967530C>T	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.801G>A	11.37:g.4967530C>T						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.R267R	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	826	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	267		R -> G (in dbSNP:rs2595988).				Silent	SNP	ENST00000380373.2	37	c.801G>A	CCDS31367.1																																																																																				0.448	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		6	835	0	0	0	1	0	6	835					T	4967530	C	T	4967530	2	4	89	1	0	0	0	0	0	0	0	1	11129	726	26	2		2	OR51A4	11	4967530	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2785421	4967530	130038986	108	33470											
HPX	3263	broad.mit.edu	37	chr11	6461433	6461433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgaccttgacggaatgCagcatccacagggctgggga	15	9	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6461433C>T	ENST00000265983.3	-	4	398	c.298G>A	c.(298-300)Gca>Aca	p.A100T	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	100					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGACGGAATGCAGCATCCACA	0.517																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(298-300)Gca>Aca		hemopexin							126	113	117					11																	6461433		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6461433C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.298G>A	11.37:g.6461433C>T	ENSP00000265983:p.Ala100Thr					HPX_ENST00000525057.1_5'UTR	p.A100T	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	4	398	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	100			Hemopexin-like 2.		B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.298G>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412896	0.83340	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.06528	3.29	4.92	4.92	0.64577	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.92122	3.275	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.40496	-0.9560	10	0.87932	D	0	-23.7514	15.653	0.77112	0.0:1.0:0.0:0.0	.	100;100	B7Z8Q4;P02790	.;HEMO_HUMAN	T	100	ENSP00000265983:A100T	ENSP00000265983:A100T	A	-	1	0	HPX	6418009	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.482000	0.53186	2.554000	0.86153	0.555000	0.69702	GCA		0.517	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		6	388	0	0	0	1	0	6	388					T	6461433	C	T	6461433	3	4	89	1	0	0	0	0	1	0	0	0	7376	710	25	2	1118	2	HPX	11	6461433	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	1493903	6461433	128545083	109	33471											
OR2AG2	338755	broad.mit.edu	37	chr11	6789727	6789727	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atggtatgtcctatagcaatCagggatgccaggatccagga	12	8	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6789727C>A	ENST00000338569.2	-	1	559	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTATAGCAATCAGGGATGCCA	0.507																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(460-462)ctG>ctT		olfactory receptor, family 2, subfamily AG, member 2							113	92	99					11																	6789727		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789727C>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.462G>T	11.37:g.6789727C>A							p.L154L	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	559	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	154						Silent	SNP	ENST00000338569.2	37	c.462G>T	CCDS31413.1																																																																																				0.507	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		20	328	1	0	8.34094e-07	1	8.43361e-07	20	328					A	6789727	C	A	6789727	2	1	89	1	0	0	0	0	0	0	0	1	11027	813	29	3		3	OR2AG2	11	6789727	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	328294	6789727	128216789	110	33472											
NELL1	4745	broad.mit.edu	37	chr11	20968881	20968881	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccctaatatttggcttccaGggtggagttttagtaaaaat	9	6	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:20968881G>T	ENST00000357134.5	+	11	1223		c.e11-1		NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000298925.5_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						TTGGCTTCCAGGGTGGAGTTT	0.368																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.e12-1		NEL-like 1 (chicken)							91	94	93					11																	20968881		2203	4300	6503	SO:0001630	splice_region_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20968881G>T	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.1072-1G>T	11.37:g.20968881G>T						NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000357134.5_Splice_Site|NELL1_ENST00000325319.5_Splice_Site				Q92832	NELL1_HUMAN			12	1308	+								B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Splice_Site	SNP	ENST00000357134.5	37		CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010372	0.75046	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20925457	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.847000	0.75404	2.941000	0.99782	0.655000	0.94253	.		0.368	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	Intron	43	463	1	0	7.05121e-23	1	7.51946e-23	43	463					T	20968881	G	T	20968881	5	4	89	1	0	0	0	0	0	0	1	0	10375	1014	35	3	1113	3	NELL1	11	20968881	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14179154	20968881	114037635	111	33473											
AHNAK	79026	broad.mit.edu	37	chr11	62297984	62297984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttcagctttccttccGggccctcaaggctcacatct	8	17	4	0	rs569137878		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:62297984G>A	ENST00000378024.4	-	5	4179	c.3905C>T	c.(3904-3906)cCg>cTg	p.P1302L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1302					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)				CTTTCCTTCCGGGCCCTCAAG	0.552																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3904-3906)cCg>cTg		AHNAK nucleoprotein							134	145	141					11																	62297984		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297984G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3905C>T	11.37:g.62297984G>A	ENSP00000367263:p.Pro1302Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P1302L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4179	-		Melanoma(852;0.155)	1302					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3905C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	13.14	2.148809	0.37923	.	.	ENSG00000124942	ENST00000378024	T	0.03242	4.0	4.66	4.66	0.58398	.	0.000000	0.31612	U	0.007360	T	0.09379	0.0231	M	0.87827	2.91	0.58432	D	0.999999	P	0.50272	0.933	B	0.39152	0.292	T	0.22173	-1.0224	10	0.45353	T	0.12	.	17.5636	0.87913	0.0:0.0:1.0:0.0	.	1302	Q09666	AHNK_HUMAN	L	1302	ENSP00000367263:P1302L	ENSP00000367263:P1302L	P	-	2	0	AHNAK	62054560	0.997000	0.39634	0.103000	0.21229	0.003000	0.03518	2.440000	0.44855	2.309000	0.77851	0.645000	0.84053	CCG		0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		213	905	0	0	0	1	0	213	905					A	62297984	G	A	62297984	3	1	89	1	0	0	0	0	1	0	0	0	414	1116	39	1	13887	1	AHNAK	11	62297984	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	41329103	62297984	72708532	112	33474											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810433	65810433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcccgcgccagcgccgCggggatggcggccaggcgcg	19	18	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:65810433C>T	ENST00000312006.4	-	3	1122	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A281T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	281					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						gccagcgccgcggggATGGCG	0.756																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(841-843)Gcg>Acg		galactose-3-O-sulfotransferase 3							3	4	3					11																	65810433		1703	3296	4999	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810433C>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.841G>A	11.37:g.65810433C>T	ENSP00000308591:p.Ala281Thr					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A281T	p.A281T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	1122	-			281					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.841G>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	4.128	0.022068	0.08006	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.14640	2.49;2.49	4.49	2.58	0.30949	.	0.711911	0.12996	N	0.422026	T	0.06142	0.0159	N	0.16833	0.445	0.25445	N	0.988058	B	0.34313	0.448	B	0.26517	0.07	T	0.37663	-0.9696	10	0.14656	T	0.56	-8.5029	5.9018	0.18970	0.1877:0.7113:0.0:0.1009	.	281	Q96A11	G3ST3_HUMAN	T	281	ENSP00000308591:A281T;ENSP00000434829:A281T	ENSP00000308591:A281T	A	-	1	0	GAL3ST3	65567009	0.004000	0.15560	0.976000	0.42696	0.149000	0.21700	0.363000	0.20301	0.427000	0.26145	-1.512000	0.00943	GCG		0.756	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		10	35	0	0	0	1	0	10	35					T	65810433	C	T	65810433	3	4	89	1	0	0	0	0	1	0	0	0	6227	768	27	1	458	1	GAL3ST3	11	65810433	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3512449	65810433	69196083	113	33475											
RPS6KB2	6199	broad.mit.edu	37	chr11	67202460	67202460	+	Splice_Site	DEL	C	C	-													tgccttggtttcccctgcagCcccctcaagttctccccttt					rs201485693		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:67202460delC	ENST00000312629.5	+	15	1314	c.1269delC	c.(1267-1269)agc>ag	p.S423fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	423	Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCCCTGCAGCCCCCTCAAGT	0.657																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.e15-1		ribosomal protein S6 kinase, 70kDa, polypeptide 2							66	75	72					11																	67202460		1928	4115	6043	SO:0001630	splice_region_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67202460delC	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1269-1C>-	11.37:g.67202460delC						AP003419.16_ENST00000535922.1_RNA	p.S423_splice	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		15	1314	+			423			Pro-rich.		B2RMZ9|B4DML8|O94809|Q9UEC1	Splice_Site	DEL	ENST00000312629.5	37	c.1268_splice	CCDS41677.1																																																																																				0.657	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952	Frame_Shift_Del	76	1045						76	1045	---	---	---	---	-	67202460	C	-	67202460	8	5	89	1	0	1	0	1	0	0	1	0	13707	753	26	0	1327	0	RPS6KB2	11	67202460	Splice_Site	DEL	C	TCGA-IB-A6UG-01A-32D-A33T-08	1392027	67202460	67804056	114	33476											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238580	71238580	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaaggggggctgtggCtcttgtgggggttctaaggg	20	7	2	0	rs12271719		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:71238580C>T	ENST00000398536.4	+	1	268	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	78	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						GGGGCTGTGGCTCTTGTGGGG	0.642																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(232-234)ggC>ggT		keratin associated protein 5-7							72	99	90					11																	71238580		2199	4294	6493	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238580C>T	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.234C>T	11.37:g.71238580C>T							p.G78G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	268	+			78			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.234C>T	CCDS41682.1																																																																																				0.642	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			10	1442	0	0	0	1	0	10	1442					T	71238580	C	T	71238580	2	4	89	1	0	0	0	0	0	0	0	1	8597	784	28	2		2	KRTAP5-7	11	71238580	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	4036120	71238580	63767936	115	33477											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249545	71249545	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttcccagtccagctgCtgtaagccctgctgctgctc	10	15	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgT		keratin associated protein 5-8							173	178	177					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"Keratin associated proteins"	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>T	11.37:g.71249545C>T							p.C148C	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.444C>T	CCDS41683.1																																																																																				0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		10	1698	0	0	0	1	0	10	1698					T	71249545	C	T	71249545	2	4	89	1	0	0	0	0	0	0	0	1	8598	805	28	2		2	KRTAP5-8	11	71249545	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	10965	71249545	63756971	116	33478											
KIAA1377	57562	broad.mit.edu	37	chr11	101868356	101868356	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agagaagatagaaccagcagCtgcagagacaagagataatt	11	6	0	5			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:101868356C>G	ENST00000263468.8	+	11	3606	c.3336C>G	c.(3334-3336)agC>agG	p.S1112R	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S913R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1112										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAACCAGCAGCTGCAGAGACA	0.433																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(3334-3336)agC>agG		KIAA1377							167	160	162					11																	101868356		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101868356C>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3336C>G	11.37:g.101868356C>G	ENSP00000263468:p.Ser1112Arg					KIAA1377_ENST00000537689.1_Missense_Mutation_p.S913R	p.S1112R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	11	3606	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	1112					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.3336C>G	CCDS31658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.069|1.069	-0.670595|-0.670595	0.03403|0.03403	.|.	.|.	ENSG00000110318|ENSG00000110318	ENST00000532077|ENST00000263468;ENST00000537689	.|T;T	.|0.08458	.|3.24;3.09	1.32|1.32	0.388|0.388	0.16264|0.16264	.|.	.|0.867104	.|0.09375	.|N	.|0.810733	T|T	0.02767|0.02767	0.0083|0.0083	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B	.|0.30889	.|0.299	.|B	.|0.26614	.|0.071	T|T	0.42849|0.42849	-0.9427|-0.9427	5|10	.|0.34782	.|T	.|0.22	2.2351|2.2351	3.8091|3.8091	0.08789|0.08789	0.0:0.752:0.0:0.248|0.0:0.752:0.0:0.248	.|.	.|1112	.|Q9P2H0	.|K1377_HUMAN	V|R	76|1112;913	.|ENSP00000263468:S1112R;ENSP00000443184:S913R	.|ENSP00000263468:S1112R	L|S	+|+	1|3	2|2	KIAA1377|KIAA1377	101373566|101373566	0.001000|0.001000	0.12720|0.12720	0.022000|0.022000	0.16811|0.16811	0.008000|0.008000	0.06430|0.06430	-0.042000|-0.042000	0.12063|0.12063	0.109000|0.109000	0.17891|0.17891	-0.444000|-0.444000	0.05651|0.05651	CTG|AGC		0.433	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		6	348	0	0	0	1	0	6	348					G	101868356	C	G	101868356	3	3	89	1	0	0	0	0	1	0	0	0	8257	796	28	5	3378	5	KIAA1377	11	101868356	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	30618811	101868356	33138160	117	33479											
C2CD2L	9854	broad.mit.edu	37	chr11	118984835	118984835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctatccctgggctatgcgGcatccctggaagcctcagtg	12	14	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:118984835G>A	ENST00000528586.1	+	9	983	c.913G>A	c.(913-915)Gca>Aca	p.A305T	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A558T			O14523	C2C2L_HUMAN	C2CD2-like	557						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGGCTATGCGGCATCCCTGGA	0.617																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1672-1674)Gca>Aca		C2CD2-like							111	111	111					11																	118984835		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984835G>A	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.913G>A	11.37:g.118984835G>A	ENSP00000433600:p.Ala305Thr					C2CD2L_ENST00000528586.1_Missense_Mutation_p.A305T	p.A558T	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			13	2031	+			557					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1672G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.232485	0.95207	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.44083	0.93;0.93	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.49350	1.555	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61554	-0.7039	10	0.72032	D	0.01	2.3648	18.0563	0.89365	0.0:0.0:1.0:0.0	.	557;558	O14523;O14523-2	C2C2L_HUMAN;.	T	558;305	ENSP00000338885:A558T;ENSP00000433600:A305T	ENSP00000338885:A558T	A	+	1	0	C2CD2L	118490045	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.735000	0.91549	2.798000	0.96311	0.655000	0.94253	GCA		0.617	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		6	920	0	0	0	1	0	6	920					A	118984835	G	A	118984835	3	1	89	1	0	0	0	0	1	0	0	0	2160	1203	42	2	1722	2	C2CD2L	11	118984835	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	17116479	118984835	16021681	118	33480											
OR10G9	219870	broad.mit.edu	37	chr11	123893818	123893818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaatcttcctggtggtttaCgtgctcactgtgctggggaa	14	8	2	0	rs145074505		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:123893818C>T	ENST00000375024.1	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	33						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)		TGGTGGTTTACGTGCTCACTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		20546	0.0		0.001	False		,,,				2504	0.0					ENST00000375024.1																			0				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						c.(97-99)taC>taT		olfactory receptor, family 10, subfamily G, member 9		C		0,4402		0,0,2201	172	156	161		99	-4.4	0	11	dbSNP_134	161	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	OR10G9	NM_001001953.1		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		33/312	123893818	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893818C>T	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.99C>T	11.37:g.123893818C>T							p.Y33Y	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	99	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	33						Silent	SNP	ENST00000375024.1	37	c.99C>T	CCDS31703.1																																																																																				0.572	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		216	722	0	0	0	1	0	216	722					T	123893818	C	T	123893818	2	4	89	1	0	0	0	0	0	0	0	1	10946	547	19	1		1	OR10G9	11	123893818	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	4908983	123893818	11112698	119	33481											
DCP1B	196513	broad.mit.edu	37	chr12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-													tggcagaggaactggttatcTtttttggctcagaacaggtt							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)aagfs	p.K183fs	DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(547-549)agfs		decapping mRNA 1B							190	184	186					12																	2064701		2203	4300	6503	SO:0001589	frameshift_variant	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064701delT	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.548delA	12.37:g.2064701delT	ENSP00000280665:p.Lys183fs					DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs	p.K183fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	627	-			183					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Frame_Shift_Del	DEL	ENST00000280665.6	37	c.548delA	CCDS31727.1																																																																																				0.378	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		8	771						8	771	---	---	---	---	-	2064701	T	-	2064701	7	5	89	1	0	1	0	1	0	0	0	0	4310	1609	56	0	1321	0	DCP1B	12	2064701	Frame_Shift_Del	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08		2064701	131787194	120	33482											
CACNA1C	775	broad.mit.edu	37	chr12	2797686	2797686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattccctaggccttttgCcaccccaccagccacacctg	5	20	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2797686C>T	ENST00000347598.4	+	48	6002	c.6002C>T	c.(6001-6003)gCc>gTc	p.A2001V	CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1953V|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1994V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1973V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1981V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1988V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1978V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1970V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1959V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1953V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2024V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2036					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)	AGGCCTTTTGCCACCCCACCA	0.642																																						ENST00000399655.1																			0				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						c.(5857-5859)gCc>gTc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						45	53	51					12																	2797686		1943	4134	6077	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797686C>T	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.6002C>T	12.37:g.2797686C>T	ENSP00000266376:p.Ala2001Val					CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1988V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1994V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1973V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2001V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1981V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1959V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1970V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2024V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1978V	p.A1953V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6123	+			2036					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5858C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273195	0.40194	.	.	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	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.86	3.97	0.46021	.	1.113020	0.06702	N	0.771686	T	0.53658	0.1810	M	0.62723	1.935	0.26184	N	0.979682	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21520	0.011;0.057;0.01;0.017;0.057;0.026;0.012;0.015;0.007;0.026;0.026;0.01;0.01;0.015;0.006;0.009;0.01;0.008;0.026;0.008;0.012;0.015;0.026;0.01;0.01	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26310	0.037;0.068;0.011;0.027;0.068;0.068;0.024;0.068;0.038;0.024;0.036;0.017;0.033;0.068;0.005;0.031;0.033;0.019;0.036;0.032;0.016;0.036;0.036;0.017;0.011	T	0.47129	-0.9141	10	0.44086	T	0.13	.	9.6655	0.39981	0.0:0.7805:0.1415:0.078	.	644;1994;1950;2036;1988;1972;1953;1970;1981;1953;1973;1953;1984;2001;1953;1988;2024;1961;1959;1961;1942;1972;1972;1953;1953	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	1978;1953;1953;1981;1953;1972;1972;1961;1953;2001;1973;1953;1994;1970;1988;1959;1972;1953;2024;1988;2024;1961;1854	ENSP00000336982:A1978V;ENSP00000382563:A1953V;ENSP00000382552:A1953V;ENSP00000382547:A1981V;ENSP00000382506:A1953V;ENSP00000382530:A1972V;ENSP00000382546:A1972V;ENSP00000382500:A1961V;ENSP00000382549:A1953V;ENSP00000266376:A2001V;ENSP00000382515:A1973V;ENSP00000382510:A1953V;ENSP00000341092:A1994V;ENSP00000382537:A1970V;ENSP00000329877:A1988V;ENSP00000382557:A1959V;ENSP00000385724:A1972V;ENSP00000382512:A1953V;ENSP00000382542:A2024V;ENSP00000382526:A1988V;ENSP00000385896:A2024V;ENSP00000382504:A1961V	ENSP00000323129:A1854V	A	+	2	0	CACNA1C	2667947	1.000000	0.71417	0.629000	0.29254	0.517000	0.34286	4.439000	0.59968	1.051000	0.40369	0.462000	0.41574	GCC		0.642	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		7	662	0	0	0	1	0	7	662					T	2797686	C	T	2797686	3	4	89	1	0	0	0	0	1	0	0	0	2547	739	26	2	6749	2	CACNA1C	12	2797686	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	732985	2797686	131054209	121	33483											
KCNA6	3742	broad.mit.edu	37	chr12	4919470	4919470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagtacttcttcgaccGcaaccggcccagcttcgacg	10	15	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:4919470G>A	ENST00000280684.3	+	1	1129	c.263G>A	c.(262-264)cGc>cAc	p.R88H	KCNA6_ENST00000433855.1_Missense_Mutation_p.R88H|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	88					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)	TTCTTCGACCGCAACCGGCCC	0.637										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(262-264)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 6							50	53	52					12																	4919470		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919470G>A	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.263G>A	12.37:g.4919470G>A	ENSP00000280684:p.Arg88His	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R88H	p.R88H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1129	+			88						Missense_Mutation	SNP	ENST00000280684.3	37	c.263G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776125	0.90195	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.90261	-2.64;-2.64	4.45	4.45	0.53987	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99170	1.0864	10	0.87932	D	0	.	16.2612	0.82547	0.0:0.0:1.0:0.0	.	88	P17658	KCNA6_HUMAN	H	88	ENSP00000408321:R88H;ENSP00000280684:R88H	ENSP00000280684:R88H	R	+	2	0	KCNA6	4789731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.490000	0.97952	2.291000	0.77112	0.462000	0.41574	CGC		0.637	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		5	584	0	0	0	1	0	5	584					A	4919470	G	A	4919470	3	1	89	1	0	0	0	0	1	0	0	0	8037	1087	38	1	265	1	KCNA6	12	4919470	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2121784	4919470	128932425	122	33484											
GRIN2B	2904	broad.mit.edu	37	chr12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagccatgttcttggccGtgcgcagcaggcgcaggatg	16	10	1	0	rs552036402		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0					ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2710-2712)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						155	142	146					12																	13717461		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717461G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met						p.T904M	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2920	-			904					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2711C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	1000	0	0	0	1	0	6	1000					A	13717461	G	A	13717461	3	1	89	1	0	0	0	0	1	0	0	0	6810	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8797991	13717461	120134434	123	33485											
GYS2	2998	broad.mit.edu	37	chr12	21721886	21721886	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaatgaacggaagctcGctccatgcagtaccggtggt	13	11	0	1	rs121918419		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21721886G>A	ENST00000261195.2	-	5	990	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	246					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R246*(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGAAGCTCGCTCCATGCAG	0.423																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			1	Substitution - Nonsense(1)	p.R246*(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	GRCh37	CM980965	GYS2	M	rs121918419	c.(736-738)Cga>Tga		glycogen synthase 2 (liver)							161	154	156					12																	21721886		2203	4300	6503	SO:0001587	stop_gained	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21721886G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.736C>T	12.37:g.21721886G>A	ENSP00000261195:p.Arg246*						p.R246*	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			5	990	-			246					A0AVD8	Nonsense_Mutation	SNP	ENST00000261195.2	37	c.736C>T	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	39	7.668078	0.98422	.	.	ENSG00000111713	ENST00000261195	.	.	.	5.16	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9125	15.0535	0.71894	0.0:0.0:0.8571:0.1429	.	.	.	.	X	246	.	ENSP00000261195:R246X	R	-	1	2	GYS2	21613153	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.419000	0.52728	1.363000	0.46019	0.655000	0.94253	CGA		0.423	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		6	490	0	0	0	1	0	6	490					A	21721886	G	A	21721886	4	1	89	1	0	0	0	0	0	1	0	0	6943	1095	38	1	1423	1	GYS2	12	21721886	Nonsense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8004425	21721886	112130009	124	33486											
GYS2	2998	broad.mit.edu	37	chr12	21733405	21733405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatagttctctccccaTtcatctgctgttgttttggc	7	10	3	1	rs553711100		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21733405T>C	ENST00000261195.2	-	2	428	c.174A>G	c.(172-174)gaA>gaG	p.E58E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	58					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCTCCCCATTCATCTGCTG	0.378													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20433	0.0		0.0	False		,,,				2504	0.0				Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(172-174)gaA>gaG		glycogen synthase 2 (liver)							193	184	187					12																	21733405		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733405T>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.174A>G	12.37:g.21733405T>C							p.E58E	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			2	428	-			58					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.174A>G	CCDS8690.1																																																																																				0.378	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		22	590	0	0	0	1	0	22	590					C	21733405	T	C	21733405	2	2	89	1	0	0	0	0	0	0	0	1	6943	1490	52	4		4	GYS2	12	21733405	Silent	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	11519	21733405	112118490	125	33487											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		13	117	0	0	0	1	0	13	117					T	25398284	C	T	25398284	3	4	89	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3664879	25398284	108453611	126	33488											
FMNL3	91010	broad.mit.edu	37	chr12	50050953	50050953	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagttcttcagggccctgCgcccagggagagtgctatac	15	11	2	1	rs202178648		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:50050953C>T	ENST00000293590.5	-	7	859	c.626G>A	c.(625-627)cGc>cAc	p.R209H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R158H|FMNL3_ENST00000335154.5_Missense_Mutation_p.R209H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R209H			Q8IVF7	FMNL3_HUMAN	formin-like 3	209	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGGGCCCTGCGCCCAGGGAG	0.582																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(625-627)cGc>cAc		formin-like 3		C	HIS/ARG,HIS/ARG	0,4032		0,0,2016	80	81	81		626,473	5.4	1	12		81	2,8380		0,2,4189	yes	missense,missense	FMNL3	NM_175736.4,NM_198900.2	29,29	0,2,6205	TT,TC,CC		0.0239,0.0,0.0161	probably-damaging,probably-damaging	209/1028,158/977	50050953	2,12412	2016	4191	6207	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50050953C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.626G>A	12.37:g.50050953C>T	ENSP00000293590:p.Arg209His					FMNL3_ENST00000352151.5_Missense_Mutation_p.R158H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R209H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R209H	p.R209H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			7	859	-			209			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.626G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.423799	0.96111	0.0	2.39E-4	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.81821	-1.51;-1.5;-1.54;-1.5	5.45	5.45	0.79879	.	0.052637	0.64402	D	0.000001	D	0.89832	0.6829	M	0.77616	2.38	0.49915	D	0.999834	D;D	0.76494	0.999;0.994	D;P	0.80764	0.994;0.754	D	0.89710	0.3911	10	0.52906	T	0.07	.	18.4343	0.90638	0.0:1.0:0.0:0.0	.	158;209	Q8IVF7-2;Q8IVF7-3	.;.	H	209;209;158;209	ENSP00000335655:R209H;ENSP00000447479:R209H;ENSP00000344311:R158H;ENSP00000293590:R209H	ENSP00000293590:R209H	R	-	2	0	FMNL3	48337220	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.865000	0.62998	2.744000	0.94065	0.561000	0.74099	CGC		0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		81	381	0	0	0	1	0	81	381					T	50050953	C	T	50050953	3	4	89	1	0	0	0	0	1	0	0	0	5978	768	27	1	2537	1	FMNL3	12	50050953	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	24652669	50050953	83800942	127	33489											
TARBP2	8620	broad.mit.edu	37	chr12	53898955	53898955	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaattggcaaagcggaatgCggcggccaaaatgctgcttc	12	9	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:53898955C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000266987.2_Missense_Mutation_p.A217V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						AAGCGGAATGCGGCGGCCAAA	0.572																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(649-651)gCg>gTg		TAR (HIV-1) RNA binding protein 2							129	118	122					12																	53898955		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898955C>T	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		12.37:g.53898955C>T						TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V	p.A217V	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			7	1133	+			217			DRBM 2.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.650C>T	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224601	0.95139	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.92495	-3.05;-3.05;-3.05	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97636	1.0145	10	0.87932	D	0	-16.1595	17.5584	0.87900	0.0:1.0:0.0:0.0	.	217	Q15633	TRBP2_HUMAN	V	217;196;196	ENSP00000266987:A217V;ENSP00000416077:A196V;ENSP00000377885:A196V	ENSP00000266987:A217V	A	+	2	0	TARBP2	52185222	0.999000	0.42202	0.518000	0.27811	0.879000	0.50718	4.317000	0.59184	2.759000	0.94783	0.561000	0.74099	GCG		0.572	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		6	669	0	0	0	1	0	6	669					T	53898955	C	T	53898955	1	4	89	0	1	0	0	0	0	0	0	0	15608	768	27	1		1	TARBP2	12	53898955	IGR	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3848002	53898955	79952940	128	33490											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	15	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155	155	155					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		8	1371	0	0	0	1	0	8	1371					T	56629464	C	T	56629464	3	4	89	1	0	0	0	0	1	0	0	0	14671	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2730509	56629464	77222431	129	33491											
NACA	4666	broad.mit.edu	37	chr12	57108169	57108169	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgtgccttcttttcactccGactctgttttgctttactga	6	13	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:57108169G>A	ENST00000454682.1	-	5	6081	c.5800C>T	c.(5800-5802)Cgg>Tgg	p.R1934W	NACA_ENST00000550952.1_Missense_Mutation_p.R781W|NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000546392.1_Missense_Mutation_p.R71W|NACA_ENST00000552540.1_Missense_Mutation_p.R71W	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1934	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.|Required for DNA-binding. {ECO:0000250}.				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						TTTTCACTCCGACTCTGTTTT	0.388			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5800-5802)Cgg>Tgg		nascent polypeptide-associated complex alpha subunit							137	122	127					12																	57108169		2203	4299	6502	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57108169G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5800C>T	12.37:g.57108169G>A	ENSP00000403817:p.Arg1934Trp					NACA_ENST00000546392.1_Missense_Mutation_p.R71W|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000552540.1_Missense_Mutation_p.R71W|NACA_ENST00000550952.1_Missense_Mutation_p.R781W	p.R1934W	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			5	6081	-			71						Missense_Mutation	SNP	ENST00000454682.1	37	c.5800C>T		.	.	.	.	.	.	.	.	.	.	G	14.69	2.611275	0.46631	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.67345	0.14;-0.1;-0.26;0.16;0.16;0.16;0.16;0.18;0.0;0.03	4.73	3.82	0.43975	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	H	0.95151	3.63	0.53688	D	0.999979	P;D;B	0.59767	0.946;0.986;0.008	P;P;B	0.57960	0.523;0.83;0.002	D	0.86446	0.1770	10	0.87932	D	0	.	11.0665	0.47979	0.0:0.0:0.663:0.337	.	1934;781;71	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	W	69;1934;781;71;71;71;71;71;67;71	ENSP00000448039:R69W;ENSP00000403817:R1934W;ENSP00000448035:R781W;ENSP00000349212:R71W;ENSP00000447821:R71W;ENSP00000377469:R71W;ENSP00000446801:R71W;ENSP00000447133:R71W;ENSP00000450383:R67W;ENSP00000447764:R71W	ENSP00000349212:R71W	R	-	1	2	NACA	55394436	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.742000	0.47434	0.938000	0.37419	0.460000	0.39030	CGG		0.388	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		25	279	0	0	0	1	0	25	279					A	57108169	G	A	57108169	3	1	89	1	0	0	0	0	1	0	0	0	10174	1057	37	1	456	1	NACA	12	57108169	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	478705	57108169	76743726	130	33492											
CNOT2	4848	broad.mit.edu	37	chr12	70732321	70732321	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataataaccagcagaaaaaAgggatccaggtgttacctga	9	7	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:70732321A>G	ENST00000418359.3	+	11	1450	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000229195.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					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)			AGCAGAAAAAAGGGATCCAGG	0.323																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(997-999)aaA>aaG		CCR4-NOT transcription complex, subunit 2							87	90	89					12																	70732321		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732321A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.999A>G	12.37:g.70732321A>G						CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Silent_p.K333K	p.K333K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1578	+	Renal(347;0.236)		333					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.999A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	5.067	0.198090	0.09652	.	.	ENSG00000111596	ENST00000552599	.	.	.	5.71	-0.549	0.11829	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50268	-0.8848	4	.	.	.	-7.611	9.9087	0.41392	0.6553:0.0:0.3447:0.0	.	.	.	.	G	44	.	.	R	+	1	2	CNOT2	69018588	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.180000	0.42537	-0.100000	0.12241	-0.376000	0.06991	AGG		0.323	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			4	439	0	0	0	1	0	4	439					G	70732321	A	G	70732321	2	3	89	1	0	0	0	0	0	0	0	1	3628	69	3	4		4	CNOT2	12	70732321	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	13624152	70732321	63119574	131	33493											
NOS1	4842	broad.mit.edu	37	chr12	117728173	117728173	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcttgaccttgaggaagCgtggacacttggaggggctg	16	7	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:117728173C>T	ENST00000338101.4	-	3	915	c.911G>A	c.(910-912)cGc>cAc	p.R304H	NOS1_ENST00000317775.6_Missense_Mutation_p.R304H|NOS1_ENST00000344089.3_Missense_Mutation_p.A323T			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)		CTTGAGGAAGCGTGGACACTT	0.547																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(910-912)cGc>cAc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						56	58	58					12																	117728173		2051	4194	6245	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117728173C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.911G>A	12.37:g.117728173C>T	ENSP00000337459:p.Arg304His					NOS1_ENST00000344089.3_Missense_Mutation_p.A323T|NOS1_ENST00000338101.4_Missense_Mutation_p.R304H	p.R304H	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	4	1596	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		304						Missense_Mutation	SNP	ENST00000338101.4	37	c.911G>A	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.454934|4.454934	0.84209|0.84209	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000344089|ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T|T;T	0.05786|0.01629	3.39|4.77;4.72	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Nitric oxide synthase, oxygenase domain (1);	.|0.109676	.|0.64402	.|D	.|0.000008	T|T	0.09774|0.09774	0.0240|0.0240	M|M	0.73598|0.73598	2.24|2.24	0.39371|0.39371	D|D	0.96609|0.96609	.|D	.|0.89917	.|1.0	.|P	.|0.62560	.|0.904	T|T	0.00728|0.00728	-1.1591|-1.1591	7|10	0.87932|0.66056	D|D	0|0.02	-33.7598|-33.7598	18.7669|18.7669	0.91876|0.91876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|304	.|P29475	.|NOS1_HUMAN	T|H	323|304	ENSP00000339862:A323T|ENSP00000320758:R304H;ENSP00000337459:R304H	ENSP00000339862:A323T|ENSP00000320758:R304H	A|R	-|-	1|2	0|0	NOS1|NOS1	116212556|116212556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.382000|7.382000	0.79729|0.79729	2.680000|2.680000	0.91292|0.91292	0.467000|0.467000	0.42956|0.42956	GCT|CGC		0.547	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			40	200	0	0	0	1	0	40	200					T	117728173	C	T	117728173	3	4	89	1	0	0	0	0	1	0	0	0	10583	768	27	1	3497	1	NOS1	12	117728173	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	46995852	117728173	16123722	132	33494											
CLIP1	6249	broad.mit.edu	37	chr12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagcttttccgtggcgGtatacagagcctttatctcc	10	10	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:122825973G>A	ENST00000540338.1	-	10	1819	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000358808.2_Missense_Mutation_p.T582I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1744-1746)aCc>aTc		CAP-GLY domain containing linker protein 1							142	143	142					12																	122825973		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825973G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1778C>T	12.37:g.122825973G>A	ENSP00000439093:p.Thr593Ile					CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I	p.T582I	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1899	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		593					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1745C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727207	0.15439	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61627	2.74;0.69;0.69;0.7;0.69;0.09	5.37	0.13	0.14746	.	0.766493	0.13191	N	0.406706	T	0.23965	0.0580	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.18116	-1.0347	10	0.44086	T	0.13	3.1754	5.4745	0.16688	0.372:0.1308:0.4972:0.0	.	283;547;582;593	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	283;582;582;427;547;593;516	ENSP00000438743:T283I;ENSP00000303585:T582I;ENSP00000351665:T582I;ENSP00000445531:T547I;ENSP00000439093:T593I;ENSP00000437786:T516I	ENSP00000303585:T582I	T	-	2	0	CLIP1	121391926	0.848000	0.29623	0.000000	0.03702	0.566000	0.35808	2.612000	0.46343	0.033000	0.15463	0.561000	0.74099	ACC		0.458	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		7	885	0	0	0	1	0	7	885					A	122825973	G	A	122825973	3	1	89	1	0	0	0	0	1	0	0	0	3541	1261	44	2	2602	2	CLIP1	12	122825973	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	5097800	122825973	11025922	133	33495											
TMEM132D	121256	broad.mit.edu	37	chr12	130184773	130184773	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggtccccctgcagccGgcagctgccccgcacctctc	9	23	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:130184773G>A	ENST00000422113.2	-	2	876	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	184					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)		CCCTGCAGCCGGCAGCTGCCC	0.692																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(550-552)Cgg>Tgg		transmembrane protein 132D							13	16	15					12																	130184773		2197	4288	6485	SO:0001583	missense	121256					integral to membrane		g.chr12:130184773G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.550C>T	12.37:g.130184773G>A	ENSP00000408581:p.Arg184Trp						p.R184W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	876	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	184					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.550C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647589	0.67358	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.22	3.2	0.36748	.	0.585904	0.15144	N	0.278095	T	0.37461	0.1004	M	0.86740	2.835	0.32312	N	0.563638	D	0.76494	0.999	P	0.59288	0.855	T	0.56529	-0.7964	9	.	.	.	-33.4486	13.4612	0.61229	0.0:0.0:0.5014:0.4986	.	184	Q14C87	T132D_HUMAN	W	184	ENSP00000408581:R184W	.	R	-	1	2	TMEM132D	128750726	0.099000	0.21834	0.990000	0.47175	0.952000	0.60782	0.262000	0.18460	1.122000	0.41944	0.555000	0.69702	CGG		0.692	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		19	198	0	0	0	1	0	19	198					A	130184773	G	A	130184773	3	1	89	1	0	0	0	0	1	0	0	0	16099	1115	39	1	2781	1	TMEM132D	12	130184773	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	7358800	130184773	3667122	134	33496											
PDS5B	23047	broad.mit.edu	37	chr13	33258137	33258137	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcacttacttaattttgtgAgagagagaacattagacaaa	7	5	1	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:33258137A>T	ENST00000315596.10	+	11	1366	c.1180A>T	c.(1180-1182)Aga>Tga	p.R394*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	394				R -> G (in Ref. 2; AAD22134). {ECO:0000305}.	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)	p.R394*(2)		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)		TAATTTTGTGAGAGAGAGAAC	0.274																																						ENST00000315596.10																			2	Substitution - Nonsense(2)	p.R394*(2)	large_intestine(1)|endometrium(1)	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						c.(1180-1182)Aga>Tga		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							140	130	133					13																	33258137		1813	4068	5881	SO:0001587	stop_gained	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33258137A>T	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.1180A>T	13.37:g.33258137A>T	ENSP00000313851:p.Arg394*						p.R394*	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		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)	11	1366	+		Lung SC(185;0.0367)	394	R -> G (in Ref. 2; AAD22134).				Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Nonsense_Mutation	SNP	ENST00000315596.10	37	c.1180A>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	36	5.852697	0.97030	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.11	5.11	0.69529	.	0.045487	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-3.1156	11.2434	0.48982	0.847:0.153:0.0:0.0	.	.	.	.	X	394	.	ENSP00000313851:R394X	R	+	1	2	PDS5B	32156137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.075000	0.50073	2.064000	0.61679	0.482000	0.46254	AGA		0.274	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		5	452	0	0	0	1	0	5	452					T	33258137	A	T	33258137	4	4	89	1	0	0	0	0	0	1	0	0	11734	296	11	5	1218	5	PDS5B	13	33258137	Nonsense_Mutation	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08		33258137	81911741	135	33497											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							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)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	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.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	379						7	379	---	---	---	---	-	46542017	CT	-	46542016	7	5	89	1	0	1	0	1	0	0	0	0	17618	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-IB-A6UG-01A-32D-A33T-08	13283879	46542016	68627862	136	33498											
ZIC5	85416	broad.mit.edu	37	chr13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattctaatgtatcgtccGcacaacttcagggttcccgt	7	11	2	0	rs577823767		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	660					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)					TGTATCGTCCGCACAACTTCA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13720	0.0		0.0	False		,,,				2504	0.0					ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1978-1980)Cgg>Tgg		Zic family member 5							66	66	66					13																	100617645		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617645G>A	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.1978C>T	13.37:g.100617645G>A	ENSP00000267294:p.Arg660Trp						p.R660W	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2211	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		660					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1978C>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556755	0.65425	.	.	ENSG00000139800	ENST00000267294	T	0.18016	2.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.29321	0.0730	L	0.36672	1.1	0.35097	D	0.764889	D	0.89917	1.0	D	0.69654	0.965	T	0.18335	-1.0340	9	0.87932	D	0	.	11.1163	0.48262	0.0:0.0:0.7346:0.2654	.	660	Q96T25	ZIC5_HUMAN	W	660	ENSP00000267294:R660W	ENSP00000267294:R660W	R	-	1	2	ZIC5	99415646	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	2.915000	0.48805	2.871000	0.98454	0.655000	0.94253	CGG		0.483	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		5	586	0	0	0	1	0	5	586					A	100617645	G	A	100617645	3	1	89	1	0	0	0	0	1	0	0	0	17735	1086	38	1	17	1	ZIC5	13	100617645	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	54075629	100617645	14552233	137	33499											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		19	1284						19	1284	---	---	---	---	-	21961062	GCT	-	21961060	7	5	89	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-IB-A6UG-01A-32D-A33T-08		21961060	85388480	138	33500											
RPL10L	140801	broad.mit.edu	37	chr14	47120810	47120810	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaccgagtgggaactcatCcacttttgccttctttctac	7	14	3	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:47120810C>A	ENST00000298283.3	-	1	218	c.130G>T	c.(130-132)Gat>Tat	p.D44Y		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	44					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						GGGAACTCATCCACTTTTGCC	0.502																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(130-132)Gat>Tat		ribosomal protein L10-like							100	102	101					14																	47120810		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120810C>A	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.130G>T	14.37:g.47120810C>A	ENSP00000298283:p.Asp44Tyr						p.D44Y	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	218	-			44					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.130G>T	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777196	0.70107	.	.	ENSG00000165496	ENST00000298283	T	0.74209	-0.82	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.98629	4.285	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.94002	0.7276	10	0.87932	D	0	-39.9655	15.1202	0.72438	0.0:1.0:0.0:0.0	.	44	Q96L21	RL10L_HUMAN	Y	44	ENSP00000298283:D44Y	ENSP00000298283:D44Y	D	-	1	0	RPL10L	46190560	1.000000	0.71417	0.997000	0.53966	0.495000	0.33615	7.003000	0.76310	2.688000	0.91661	0.655000	0.94253	GAT		0.502	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			92	476	1	0	1.40862e-40	1	1.526e-40	92	476					A	47120810	C	A	47120810	3	1	89	1	0	0	0	0	1	0	0	0	13606	855	30	3	518	3	RPL10L	14	47120810	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	25159750	47120810	60228730	139	33501											
SOS2	6655	broad.mit.edu	37	chr14	50626630	50626630	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaaacagaaaaatatgCcgttcatgtttggcaccgat	7	10	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:50626630C>T	ENST00000216373.5	-	10	1645	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	SOS2_ENST00000543680.1_Silent_p.R424R|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	457	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAAAAATATGCCGTTCATGTT	0.393																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1369-1371)cgG>cgA		son of sevenless homolog 2 (Drosophila)							186	176	179					14																	50626630		2203	4300	6503	SO:0001819	synonymous_variant	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626630C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1371G>A	14.37:g.50626630C>T						SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.R424R	p.R457R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1645	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		457			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	c.1371G>A	CCDS9697.1																																																																																				0.393	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			7	948	0	0	0	1	0	7	948					T	50626630	C	T	50626630	2	4	89	1	0	0	0	0	0	0	0	1	14987	726	26	2		2	SOS2	14	50626630	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3505820	50626630	56722910	140	33502											
MAX	4149	broad.mit.edu	37	chr14	65560458	65560458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatgggactgagtcccGcaaactgtgaaagctgtctt	13	8	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:65560458G>A	ENST00000358664.4	-	3	269	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	MAX_ENST00000284165.6_Missense_Mutation_p.R47W|MAX_ENST00000358402.4_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000557277.1_5'UTR|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000555667.1_Missense_Mutation_p.R38W|MAX_ENST00000555932.1_Intron|MAX_ENST00000555419.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R38W|MAX_ENST00000246163.2_Missense_Mutation_p.R47W|RP11-840I19.3_ENST00000553633.1_RNA|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000557746.1_Missense_Mutation_p.R38W|MAX_ENST00000556979.1_Missense_Mutation_p.R47W|MAX_ENST00000341653.2_Missense_Mutation_p.R47W	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	47	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ACTGAGTCCCGCAAACTGTGA	0.483																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(139-141)Cgg>Tgg		MYC associated factor X							189	156	167					14																	65560458		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65560458G>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.139C>T	14.37:g.65560458G>A	ENSP00000351490:p.Arg47Trp					RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000358402.4_Missense_Mutation_p.R38W|MAX_ENST00000555932.1_Intron|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555419.1_Intron|MAX_ENST00000341653.2_Missense_Mutation_p.R47W|MAX_ENST00000557746.1_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000556979.1_Missense_Mutation_p.R47W|MAX_ENST00000358664.4_Missense_Mutation_p.R47W|MAX_ENST00000556443.1_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000246163.2_Missense_Mutation_p.R47W|MAX_ENST00000555667.1_Missense_Mutation_p.R38W	p.R47W	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	3	287	-			47			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.139C>T	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499453	0.85069	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000284165;ENST00000358664;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.93	5.93	0.95920	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.997;0.998;0.999;0.998;0.999	D	0.98397	1.0566	10	0.87932	D	0	-5.0518	14.004	0.64451	0.0:0.0:0.8485:0.1515	.	47;47;38;38;47;47;47	Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;MAX_HUMAN;.;.	W	47;38;47;47;54;47;38;38;38;47	ENSP00000342482:R47W;ENSP00000351175:R38W;ENSP00000284165:R47W;ENSP00000351490:R47W;ENSP00000452378:R47W;ENSP00000452286:R38W;ENSP00000452197:R38W;ENSP00000450818:R38W;ENSP00000246163:R47W	ENSP00000246163:R47W	R	-	1	2	MAX	64630211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.132000	0.71676	2.814000	0.96858	0.563000	0.77884	CGG		0.483	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		5	356	0	0	0	1	0	5	356					A	65560458	G	A	65560458	3	1	89	1	0	0	0	0	1	0	0	0	9380	1086	38	1	695	1	MAX	14	65560458	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14933828	65560458	41789082	141	33503											
GALNTL1	57452	broad.mit.edu	37	chr14	69787575	69787575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accggcccatccgggacaccCgccattacaggtacggcctc	10	18	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:69787575C>T	ENST00000337827.4	+	2	652	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	GALNT16_ENST00000553669.1_Missense_Mutation_p.R109C|GALNT16_ENST00000448469.3_Missense_Mutation_p.R109C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	109					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|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)										CCGGGACACCCGCCATTACAG	0.532																																						ENST00000337827.4																			0											c.(325-327)Cgc>Tgc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							58	54	56					14																	69787575		2203	4300	6503	SO:0001583	missense	57452							g.chr14:69787575C>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.325C>T	14.37:g.69787575C>T	ENSP00000336729:p.Arg109Cys					GALNT16_ENST00000553669.1_Missense_Mutation_p.R109C|GALNT16_ENST00000448469.3_Missense_Mutation_p.R109C	p.R109C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					2	652	+								Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.325C>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273185	0.80580	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.62788	0.0;0.0;0.0	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85654	0.1284	10	0.87932	D	0	.	12.7073	0.57067	0.275:0.725:0.0:0.0	.	109;109	Q8N428;Q58A55	GLTL1_HUMAN;.	C	109	ENSP00000336729:R109C;ENSP00000402970:R109C;ENSP00000451200:R109C	ENSP00000336729:R109C	R	+	1	0	GALNTL1	68857328	0.997000	0.39634	1.000000	0.80357	0.843000	0.47879	3.698000	0.54771	2.660000	0.90430	0.650000	0.86243	CGC		0.532	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		5	317	0	0	0	1	0	5	317					T	69787575	C	T	69787575	3	4	89	1	0	0	0	0	1	0	0	0	6249	652	23	1	331	1	GALNTL1	14	69787575	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	4227117	69787575	37561965	142	33504											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	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																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	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					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		10	197						10	197	---	---	---	---	-	74205928	CTG	-	74205926	7	5	89	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-IB-A6UG-01A-32D-A33T-08	4418351	74205926	33143614	143	33505											
C14orf4	64207	broad.mit.edu	37	chr14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCG													ggctgcgctgttccaccgcaINSgcggcggcggcggcggcggc					rs61991619|rs371633333	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:77493647_77493648insGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGC	c.(487-489)gct>gcCGCt	p.163_163A>AA		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-489)ggc>gCGCgc		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493647_77493648insGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488dupCGC	14.37:g.77493654_77493656dupGCG	ENSP00000238647:p.Ala164dup						p.163_163G>AR	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1386_1387	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.488_489insCGC	CCDS9854.1																																																																																				0.748	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		8	66						8	66	---	---	---	---	GCG	77493648	-	GCG	77493647	7	5	89	1	0	1	1	0	0	0	0	0	1778	175	7	0	1905	0	C14orf4	14	77493647	In_Frame_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	3287721	77493647	29855893	144	33506											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg					rs201949704|rs370943979		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				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						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				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						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	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.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			13	268						13	268	---	---	---	---	-	88945630	TCC	-	88945628	7	5	89	1	0	1	0	1	0	0	0	0	12836	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-IB-A6UG-01A-32D-A33T-08	11451981	88945628	18403912	145	33507											
DIO3	1735	broad.mit.edu	37	chr14	102028612	102028612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatggcgcctacttcgagcGtctctatgtcatccagagtg	10	12	2	1	rs538885762		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:102028612G>A	ENST00000510508.4	+	1	925	c.779G>A	c.(778-780)cGt>cAt	p.R260H	DIO3_ENST00000359323.3_Missense_Mutation_p.R234H|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	260					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TACTTCGAGCGTCTCTATGTC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19221	0.0		0.0	False		,,,				2504	0.001					ENST00000510508.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(778-780)cGt>cAt		deiodinase, iodothyronine, type III							56	63	61					14																	102028612		2092	4200	6292	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028612G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.779G>A	14.37:g.102028612G>A	ENSP00000427336:p.Arg260His					DIO3_ENST00000359323.3_Missense_Mutation_p.R234H	p.R260H			P55073	IOD3_HUMAN			1	925	+		all_neural(303;0.185)	234					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.779G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902680	0.92035	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.51325	0.71;0.71	3.86	3.86	0.44501	.	0.000000	0.64402	U	0.000011	T	0.74869	0.3773	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82833	-0.0262	10	0.87932	D	0	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	234	P55073	IOD3_HUMAN	H	234;260	ENSP00000352273:R234H;ENSP00000427336:R260H	ENSP00000352273:R260H	R	+	2	0	DIO3;AL049836.1	101098365	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.515000	0.98015	1.998000	0.58463	0.462000	0.41574	CGT		0.617	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		42	412	0	0	0	1	0	42	412					A	102028612	G	A	102028612	3	1	89	1	0	0	0	0	1	0	0	0	4542	1145	40	1	781	1	DIO3	14	102028612	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	13082984	102028612	5320928	146	33508											
AHNAK2	113146	broad.mit.edu	37	chr14	105416307	105416307	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgaacgacggcatcttgaaCttgggcattttgaacttgct	10	10	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:105416307C>T	ENST00000333244.5	-	7	5600	c.5481G>A	c.(5479-5481)aaG>aaA	p.K1827K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1827						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAACTTGGGCATTT	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5479-5481)aaG>aaA		AHNAK nucleoprotein 2							199	239	226					14																	105416307		1917	4079	5996	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416307C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5481G>A	14.37:g.105416307C>T						AHNAK2_ENST00000557457.1_Intron	p.K1827K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5600	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1827					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5481G>A	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	2407	0	0	0	1	0	10	2407					T	105416307	C	T	105416307	2	4	89	1	0	0	0	0	0	0	0	1	415	564	20	2		2	AHNAK2	14	105416307	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3387695	105416307	1933233	147	33509											
TRPM1	4308	broad.mit.edu	37	chr15	31319127	31319127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgcacatactcaatccacGatcccgttcctcttggtccc	5	18	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:31319127G>A	ENST00000256552.6	-	26	3634	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1141C|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1180C|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)		CTCAATCCACGATCCCGTTCC	0.463																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3538-3540)Cgt>Tgt		transient receptor potential cation channel, subfamily M, member 1							123	117	119					15																	31319127		1911	4129	6040	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31319127G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3487C>T	15.37:g.31319127G>A	ENSP00000256552:p.Arg1163Cys					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1141C|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1163C|RP11-348B17.1_ENST00000561299.1_RNA	p.R1180C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	25	3851	-		all_lung(180;1.92e-11)	1141						Missense_Mutation	SNP	ENST00000256552.6	37	c.3538C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648605	0.67358	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.36878	1.23;1.23;1.23	5.79	5.79	0.91817	.	0.110302	0.64402	D	0.000012	T	0.43656	0.1257	L	0.47716	1.5	0.52501	D	0.999952	P;P	0.47962	0.903;0.843	P;P	0.51229	0.663;0.462	T	0.18461	-1.0336	10	0.48119	T	0.1	-12.7835	13.9482	0.64099	0.0:0.0:0.7473:0.2527	.	1135;1141	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1141;1180;1163;1141	ENSP00000380897:R1141C;ENSP00000437849:R1180C;ENSP00000256552:R1163C	ENSP00000256552:R1163C	R	-	1	0	TRPM1	29106419	0.999000	0.42202	0.962000	0.40283	0.942000	0.58702	2.188000	0.42612	2.736000	0.93811	0.655000	0.94253	CGT		0.463	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		42	429	0	0	0	1	0	42	429					A	31319127	G	A	31319127	3	1	89	1	0	0	0	0	1	0	0	0	16638	1058	37	1	1402	1	TRPM1	15	31319127	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		31319127	71212265	148	33510											
RYR3	6263	broad.mit.edu	37	chr15	33822869	33822869	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcactctttcagcggaatggTaagcagctctggtgcccact	11	12	3	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:33822869T>C	ENST00000389232.4	+	4	424		c.e4+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)		AGCGGAATGGTAAGCAGCTCT	0.498																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.e4+2		ryanodine receptor 3							63	60	61					15																	33822869		1954	4152	6106	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33822869T>C		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.354+2T>C	15.37:g.33822869T>C						RYR3_ENST00000415757.3_Splice_Site		NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	4	424	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37		CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703043	0.88924	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0668	0.72002	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31610161	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.637000	0.83313	2.191000	0.70037	0.533000	0.62120	.		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	5	128	0	0	0	1	0	5	128					C	33822869	T	C	33822869	5	2	89	1	0	0	0	0	0	0	1	0	13820	1652	57	4	370	4	RYR3	15	33822869	Splice_Site	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	2503742	33822869	68708523	149	33511											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		10	917						10	917	---	---	---	---	-	34393993	AGC	-	34393991	7	5	89	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-IB-A6UG-01A-32D-A33T-08	571122	34393991	68137401	150	33512											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		11	366						11	366	---	---	---	---	-	40328599	TGC	-	40328597	7	5	89	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-IB-A6UG-01A-32D-A33T-08	5934606	40328597	62202795	151	33513											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									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						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				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						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	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.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	630						7	630	---	---	---	---	-	59144134	GCT	-	59144132	7	5	89	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-IB-A6UG-01A-32D-A33T-08	18815535	59144132	43387260	152	33514											
ISLR2	57611	broad.mit.edu	37	chr15	74426584	74426584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctggatgtggcggagcgcGaggcgcgggtgcagctgact	20	10	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:74426584G>A	ENST00000361742.3	+	4	2258	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ISLR2_ENST00000435464.1_Missense_Mutation_p.E497K|ISLR2_ENST00000445793.1_Missense_Mutation_p.E497K|ISLR2_ENST00000453268.2_Missense_Mutation_p.E497K|ISLR2_ENST00000565540.1_Missense_Mutation_p.E497K|ISLR2_ENST00000419208.1_Missense_Mutation_p.E497K|ISLR2_ENST00000565159.1_Missense_Mutation_p.E497K|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	497					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						GGCGGAGCGCGAGGCGCGGGT	0.731																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1489-1491)Gag>Aag		immunoglobulin superfamily containing leucine-rich repeat 2							12	12	12					15																	74426584		2192	4284	6476	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426584G>A		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.1489G>A	15.37:g.74426584G>A	ENSP00000355402:p.Glu497Lys					ISLR2_ENST00000565159.1_Missense_Mutation_p.E497K|ISLR2_ENST00000419208.1_Missense_Mutation_p.E497K|ISLR2_ENST00000453268.2_Missense_Mutation_p.E497K|ISLR2_ENST00000445793.1_Missense_Mutation_p.E497K|ISLR2_ENST00000565540.1_Missense_Mutation_p.E497K|ISLR2_ENST00000435464.1_Missense_Mutation_p.E497K|ISLR2_ENST00000561975.1_Intron	p.E497K	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	2258	+			497					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1489G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082884	0.76642	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.27053	0.805	0.58432	D	0.999995	P	0.48407	0.91	B	0.32805	0.153	T	0.51787	-0.8661	10	0.56958	D	0.05	.	16.6691	0.85261	0.0:0.0:1.0:0.0	.	497	Q6UXK2	ISLR2_HUMAN	K	497	ENSP00000403244:E497K;ENSP00000355402:E497K;ENSP00000411443:E497K;ENSP00000411834:E497K;ENSP00000408872:E497K	ENSP00000355402:E497K	E	+	1	0	ISLR2	72213637	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.347000	0.73004	2.223000	0.72356	0.313000	0.20887	GAG		0.731	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		16	33	0	0	0	1	0	16	33					A	74426584	G	A	74426584	3	1	89	1	0	0	0	0	1	0	0	0	7889	1059	37	1	1491	1	ISLR2	15	74426584	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	15282452	74426584	28104808	153	33515											
LMAN1L	79748	broad.mit.edu	37	chr15	75115914	75115914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttagggatgcagctgtccGcatggctgcagaagcccagg	16	10	0	1	rs543907196		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:75115914G>A	ENST00000309664.5	+	12	1353	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R393H|CPLX3_ENST00000395018.4_5'Flank|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	405						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						GCAGCTGTCCGCATGGCTGCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.0		0.0	False		,,,				2504	0.001					ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1213-1215)cGc>cAc		lectin, mannose-binding, 1 like							77	71	73					15																	75115914		2197	4296	6493	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75115914G>A	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.1214G>A	15.37:g.75115914G>A	ENSP00000310431:p.Arg405His					RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.R393H	p.R405H	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			12	1353	+			405					Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1214G>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.673992	0.14841	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39406	1.11;1.08	5.18	-5.19	0.02832	.	1.400440	0.04515	N	0.383606	T	0.25158	0.0611	N	0.22421	0.69	0.25604	N	0.986564	B;B	0.14012	0.009;0.005	B;B	0.09377	0.004;0.002	T	0.18493	-1.0335	10	0.33940	T	0.23	.	6.2762	0.20981	0.2272:0.0:0.5161:0.2567	.	393;405	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	H	405;393	ENSP00000310431:R405H;ENSP00000369031:R393H	ENSP00000310431:R405H	R	+	2	0	LMAN1L	72902967	0.000000	0.05858	0.052000	0.19188	0.262000	0.26303	-0.908000	0.04063	-0.806000	0.04398	0.561000	0.74099	CGC		0.557	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			5	373	0	0	0	1	0	5	373					A	75115914	G	A	75115914	3	1	89	1	0	0	0	0	1	0	0	0	8870	1087	38	1	1260	1	LMAN1L	15	75115914	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	689330	75115914	27415478	154	33516											
CPLX3	594855	broad.mit.edu	37	chr15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-													agatgatcgaggaggacacaGaggaggaggaggagaaggcc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)gagdel	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(340-342)del		complexin 3				22,4242		10,2,2120						-5.3	1			72	52,8202		23,6,4098	no	coding	CPLX3	NM_001030005.2		33,8,6218	A1A1,A1R,RR		0.63,0.5159,0.5911				74,12444				SO:0001651	inframe_deletion	594855					cell junction|synapse	syntaxin binding	g.chr15:75122558_75122560delGAG	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.340_342delGAG	15.37:g.75122567_75122569delGAG	ENSP00000378464:p.Glu118del					RP11-414J4.2_ENST00000564823.1_RNA	p.E118del	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	497_499	+			118					D3DW66|Q8TEM6|Q9H818	In_Frame_Del	DEL	ENST00000395018.4	37	c.340_342delGAG	CCDS32294.1																																																																																				0.616	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		10	372						10	372	---	---	---	---	-	75122560	GAG	-	75122558	7	5	89	1	0	1	0	1	0	0	0	0	3815	943	33	0	350	0	CPLX3	15	75122558	In_Frame_Del	DEL	GAG	TCGA-IB-A6UG-01A-32D-A33T-08	6644	75122558	27408834	155	33517											
ACAN	176	broad.mit.edu	37	chr15	89388927	89388927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccccagtcccctggaacccGaggagcccttcacgtttgcc	9	19	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:89388927G>A	ENST00000561243.1	+	6	1243	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ACAN_ENST00000559004.1_Missense_Mutation_p.E415K|ACAN_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000439576.2_Missense_Mutation_p.E415K|ACAN_ENST00000558207.1_Missense_Mutation_p.E415K			P16112	PGCA_HUMAN	aggrecan	415					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)			CCTGGAACCCGAGGAGCCCTT	0.612																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1243-1245)Gag>Aag		aggrecan							59	69	65					15																	89388927		2138	4260	6398	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89388927G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1243G>A	15.37:g.89388927G>A	ENSP00000453342:p.Glu415Lys					ACAN_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000558207.1_Missense_Mutation_p.E415K|ACAN_ENST00000559004.1_Missense_Mutation_p.E415K|ACAN_ENST00000561243.1_Missense_Mutation_p.E415K	p.E415K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		7	1617	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		415					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1243G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010026	0.35415	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02236	4.62;4.38	5.52	3.57	0.40892	.	.	.	.	.	T	0.02494	0.0076	M	0.68952	2.095	0.09310	N	0.999998	P;P;P	0.43352	0.804;0.804;0.477	B;B;B	0.33392	0.124;0.163;0.032	T	0.38672	-0.9650	9	0.14252	T	0.57	-5.9214	6.9498	0.24538	0.0925:0.1781:0.7295:0.0	.	415;415;415	E7ENV9;E7EX88;Q6PID9	.;.;.	K	415	ENSP00000387356:E415K;ENSP00000341615:E415K	ENSP00000268134:E415K	E	+	1	0	ACAN	87189931	0.576000	0.26700	0.684000	0.30055	0.329000	0.28539	1.208000	0.32345	1.410000	0.46936	0.591000	0.81541	GAG		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		21	196	0	0	0	1	0	21	196					A	89388927	G	A	89388927	3	1	89	1	0	0	0	0	1	0	0	0	117	1059	37	1	1265	1	ACAN	15	89388927	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	14266369	89388927	13142465	156	33518											
BLM	641	broad.mit.edu	37	chr15	91304138	91304139	+	Frame_Shift_Ins	INS	-	-	A													gctgaaacaccaagactaggINSaaaaaaaaatgaaagctctt					rs367543043		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:91304138_91304139insA	ENST00000355112.3	+	7	1653_1654	c.1535_1536insA	c.(1534-1539)ggaaaafs	p.GK512fs	BLM_ENST00000560509.1_Frame_Shift_Ins_p.GK512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	512	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.N515fs*16(1)		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)			CCAAGACTAGGAAAAAAAAATG	0.371			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			1	Deletion - Frameshift(1)	p.N515fs*16(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1534-1536)gaafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like																																				SO:0001589	frameshift_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91304138_91304139insA	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.1544dupA	15.37:g.91304147_91304147dupA	ENSP00000347232:p.Gly512fs					BLM_ENST00000560509.1_Frame_Shift_Ins_p.E512fs	p.E512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1653_1654	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		512					Q52M96	Frame_Shift_Ins	INS	ENST00000355112.3	37	c.1535_1536insA	CCDS10363.1																																																																																				0.371	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			8	409						8	409	---	---	---	---	A	91304139	-	A	91304138	7	5	89	1	0	1	1	0	0	0	0	0	1447	1174	41	0	1557	0	BLM	15	91304138	Frame_Shift_Ins	INS	-	TCGA-IB-A6UG-01A-32D-A33T-08	1915211	91304138	11227254	157	33519											
ZC3H7A	29066	broad.mit.edu	37	chr16	11859420	11859420	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggttaatctttccattgccGccaaagaaagcctcccggct	8	13	1	1	rs374785670		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:11859420G>A	ENST00000396516.2	-	13	1841	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZC3H7A_ENST00000355758.4_Silent_p.G548G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	548						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						TTCCATTGCCGCCAAAGAAAG	0.453																																						ENST00000396516.2																			0				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						c.(1642-1644)ggC>ggT		zinc finger CCCH-type containing 7A		G		0,4394		0,0,2197	97	95	95		1644	1	1	16		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZC3H7A	NM_014153.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		548/972	11859420	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11859420G>A	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.1644C>T	16.37:g.11859420G>A						ZC3H7A_ENST00000355758.4_Silent_p.G548G	p.G548G			Q8IWR0	Z3H7A_HUMAN			13	1841	-			548					D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.1644C>T	CCDS10550.1																																																																																				0.453	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		5	502	0	0	0	1	0	5	502					A	11859420	G	A	11859420	2	1	89	1	0	0	0	0	0	0	0	1	17625	1074	38	1		1	ZC3H7A	16	11859420	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		11859420	78495333	158	33520											
IRX6	79190	broad.mit.edu	37	chr16	55361532	55361532	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgagtggcgccggtcgcCgaaagaacgcgacccgggag	16	11	0	2	rs554682141		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:55361532C>T	ENST00000290552.7	+	4	1780	c.448C>T	c.(448-450)Cga>Tga	p.R150*	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	150					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGCCGGTCGCCGAAAGAACGC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17281	0.001		0.0	False		,,,				2504	0.0					ENST00000290552.7																			0				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						c.(448-450)Cga>Tga		iroquois homeobox 6							71	57	62					16																	55361532		2198	4300	6498	SO:0001587	stop_gained	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361532C>T	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.448C>T	16.37:g.55361532C>T	ENSP00000290552:p.Arg150*					RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	p.R150*	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1780	+			150					B2RN06|Q7Z2K0	Nonsense_Mutation	SNP	ENST00000290552.7	37	c.448C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	47	13.157336	0.99723	.	.	ENSG00000159387	ENST00000290552	.	.	.	6.08	-6.48	0.01896	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7892	21.412	0.99953	0.7449:0.2551:0.0:0.0	.	.	.	.	X	150	.	ENSP00000290552:R150X	R	+	1	2	IRX6	53919033	0.747000	0.28283	0.913000	0.36048	0.165000	0.22458	1.262000	0.32992	-1.091000	0.03065	-0.989000	0.02550	CGA		0.577	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		12	165	0	0	0	1	0	12	165					T	55361532	C	T	55361532	4	4	89	1	0	0	0	0	0	1	0	0	7878	644	23	1	462	1	IRX6	16	55361532	Nonsense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	43502112	55361532	34993221	159	33521											
SETD6	79918	broad.mit.edu	37	chr16	58550831	58550831	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccaatctagaatactctgCggtgagtggagtttctcttg	11	9	3	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:58550831C>T	ENST00000219315.4	+	5	841	c.791C>T	c.(790-792)gCg>gTg	p.A264V	SETD6_ENST00000310682.2_Splice_Site_p.A240V|SETD6_ENST00000394266.4_Splice_Site_p.A195V|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	264	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAATACTCTGCGGTGAGTGGA	0.463																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.e6+1		SET domain containing 6							181	180	180					16																	58550831		2198	4300	6498	SO:0001630	splice_region_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58550831C>T	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.792+1C>T	16.37:g.58550831C>T						SETD6_ENST00000310682.2_Splice_Site_p.A240_splice|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000219315.4_Splice_Site_p.A264_splice	p.A195_splice			Q8TBK2	SETD6_HUMAN			6	640	+			264			SET.		A8K380|B5ME38|Q9H787	Splice_Site	SNP	ENST00000219315.4	37	c.585_splice	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295317	0.60086	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.14022	2.54;2.54;2.54	5.42	4.46	0.54185	SET domain (2);	0.231004	0.44097	D	0.000482	T	0.11965	0.0291	L	0.48642	1.525	0.36533	D	0.870835	P;P;P	0.42039	0.563;0.769;0.558	B;B;B	0.32724	0.039;0.151;0.023	T	0.17137	-1.0379	10	0.35671	T	0.21	-2.8694	14.3423	0.66636	0.1576:0.8424:0.0:0.0	.	240;264;240	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	V	240;195;264	ENSP00000310082:A240V;ENSP00000377809:A195V;ENSP00000219315:A264V	ENSP00000219315:A264V	A	+	2	0	SETD6	57108332	0.966000	0.33281	0.999000	0.59377	0.365000	0.29674	2.801000	0.47908	1.237000	0.43756	0.491000	0.48974	GCG		0.463	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860	Missense_Mutation	5	642	0	0	0	1	0	5	642					T	58550831	C	T	58550831	5	4	89	1	0	0	0	0	0	0	1	0	14185	782	27	1	809	1	SETD6	16	58550831	Splice_Site	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3189299	58550831	31803922	160	33522											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	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.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	390						9	390	---	---	---	---	-	67913788	AGC	-	67913786	7	5	89	1	0	1	0	1	0	0	0	0	4924	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-IB-A6UG-01A-32D-A33T-08	9362955	67913786	22440967	161	33523											
GLG1	2734	broad.mit.edu	37	chr16	74527016	74527016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgggcaatcagcttttggCgggttgtaagtgcttctcga	13	9	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:74527016C>T	ENST00000422840.2	-	7	1072	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	GLG1_ENST00000205061.5_Missense_Mutation_p.R358H|GLG1_ENST00000447066.2_Missense_Mutation_p.R347H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	358					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						CAGCTTTTGGCGGGTTGTAAG	0.443																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1072-1074)cGc>cAc		golgi glycoprotein 1							137	123	128					16																	74527016		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74527016C>T		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.1073G>A	16.37:g.74527016C>T	ENSP00000405984:p.Arg358His					GLG1_ENST00000447066.2_Missense_Mutation_p.R347H|GLG1_ENST00000205061.5_Missense_Mutation_p.R358H	p.R358H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			7	1072	-			358					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1073G>A	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459970	0.96240	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.76170	2.325	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	0.83731	0.0198	9	0.72032	D	0.01	-3.7566	19.793	0.96468	0.0:1.0:0.0:0.0	.	358;358;347	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	H	358;347;358	.	ENSP00000205061:R358H	R	-	2	0	GLG1	73084517	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.564000	0.82326	2.744000	0.94065	0.655000	0.94253	CGC		0.443	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		6	479	0	0	0	1	0	6	479					T	74527016	C	T	74527016	3	4	89	1	0	0	0	0	1	0	0	0	6465	768	27	1	2626	1	GLG1	16	74527016	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	6613230	74527016	15827737	162	33524											
COTL1	23406	broad.mit.edu	37	chr16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtggcgggggctggggTtactccgtctgggcgtcgta	20	8	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37	39	38					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"coactosin-like 1 (Dictyostelium)"			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		12	113	0	0	0	1	0	12	113					G	84600451	T	G	84600451	4	3	89	1	0	0	0	0	0	0	0	0	3770	1732	60	4	3	4	COTL1	16	84600451	Nonstop_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	10073435	84600451	5754302	163	33525											
CDH15	1013	broad.mit.edu	37	chr16	89251637	89251637	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	acgaccccgagacggacaacGcagcgctgcggttctccatc	11	16	1	1	rs371162466		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:89251637G>C	ENST00000289746.2	+	5	624	c.559G>C	c.(559-561)Gca>Cca	p.A187P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|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)		GACGGACAACGCAGCGCTGCG	0.662																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(559-561)Gca>Cca		cadherin 15, type 1, M-cadherin (myotubule)							51	48	49					16																	89251637		2193	4293	6486	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89251637G>C	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.559G>C	16.37:g.89251637G>C	ENSP00000289746:p.Ala187Pro						p.A187P	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	5	624	+			187			Cadherin 2.			Missense_Mutation	SNP	ENST00000289746.2	37	c.559G>C	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090995	0.76756	.	.	ENSG00000129910	ENST00000289746	T	0.54675	0.56	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000065	T	0.80722	0.4677	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86687	0.1920	10	0.59425	D	0.04	.	16.5411	0.84385	0.0:0.0:1.0:0.0	.	187	P55291	CAD15_HUMAN	P	187	ENSP00000289746:A187P	ENSP00000289746:A187P	A	+	1	0	CDH15	87779138	1.000000	0.71417	0.840000	0.33206	0.279000	0.26890	9.248000	0.95456	2.187000	0.69744	0.462000	0.41574	GCA		0.662	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		16	74	0	0	0	1	0	16	74					C	89251637	G	C	89251637	3	2	89	1	0	0	0	0	1	0	0	0	3109	1087	38	5	577	5	CDH15	16	89251637	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4651186	89251637	1103116	164	33526											
PSMB6	5694	broad.mit.edu	37	chr17	4700064	4700064	+	Frame_Shift_Del	DEL	G	G	-													tttgacgggggcgtggttctGggggcggactccagaacaac							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:4700064delG	ENST00000270586.3	+	2	195	c.144delG	c.(142-144)ctgfs	p.L48fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GCGTGGTTCTGGGGGCGGACT	0.532																																						ENST00000270586.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(142-144)ctfs		proteasome (prosome, macropain) subunit, beta type, 6							160	163	162					17																	4700064		2203	4300	6503	SO:0001589	frameshift_variant	5694				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr17:4700064delG	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.144delG	17.37:g.4700064delG	ENSP00000270586:p.Leu48fs						p.L48fs	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN			2	195	+			48					Q96J55	Frame_Shift_Del	DEL	ENST00000270586.3	37	c.144delG	CCDS11056.1																																																																																				0.532	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		7	1204						7	1204	---	---	---	---	-	4700064	G	-	4700064	7	5	89	1	0	1	0	1	0	0	0	0	12728	1335	47	0	150	0	PSMB6	17	4700064	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08		4700064	76495146	165	33527											
USP6	9098	broad.mit.edu	37	chr17	5072190	5072190	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagacccggccctctgccaGcataaaccactcacacccca	6	20	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:5072190G>A	ENST00000574788.1	+	35	5587	c.3357G>A	c.(3355-3357)caG>caA	p.Q1119Q	USP6_ENST00000304328.5_Silent_p.Q802Q|USP6_ENST00000250066.6_Silent_p.Q1119Q|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1119	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCTGCCAGCATAAACCAC	0.493			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"COL1A1, CDH11, ZNF9, OMD"		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3355-3357)caG>caA		ubiquitin specific peptidase 6 (Tre-2 oncogene)							104	112	109					17																	5072190		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5072190G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3357G>A	17.37:g.5072190G>A						USP6_ENST00000250066.6_Silent_p.Q1119Q|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Silent_p.Q802Q	p.Q1119Q			P35125	UBP6_HUMAN			35	5587	+			1119					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.3357G>A	CCDS11069.2																																																																																				0.493	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	814	0	0	0	1	0	6	814					A	5072190	G	A	5072190	2	1	89	1	0	0	0	0	0	0	0	1	17140	962	34	2		2	USP6	17	5072190	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	372126	5072190	76123020	166	33528											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	16	11	1	1	rs397516437|rs121912651		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	255	0	0	0	1	0	37	255					A	7577539	G	A	7577539	3	1	89	1	0	0	0	0	1	0	0	0	16434	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2505349	7577539	73617671	167	33529											
TTC19	54902	broad.mit.edu	37	chr17	15903527	15903527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggggcggacgaggccgagGcagagatcatccagctgctg	17	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:15903527G>A	ENST00000261647.5	+	2	749	c.280G>A	c.(280-282)Gca>Aca	p.A94T	ZSWIM7_ENST00000399277.1_5'Flank|TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Missense_Mutation_p.A215T|ZSWIM7_ENST00000399280.2_5'Flank|ZSWIM7_ENST00000472495.1_5'Flank|ZSWIM7_ENST00000486655.1_5'Flank	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	94					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGAGGCCGAGGCAGAGATCAT	0.731																																						ENST00000261647.5																			0				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5						c.(280-282)Gca>Aca		tetratricopeptide repeat domain 19							12	19	16					17																	15903527		2179	4260	6439	SO:0001583	missense	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15903527G>A	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"Tetratricopeptide (TTC) repeat domain containing"	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.280G>A	17.37:g.15903527G>A	ENSP00000261647:p.Ala94Thr					TTC19_ENST00000486880.2_Missense_Mutation_p.A215T|TTC19_ENST00000497842.2_3'UTR	p.A94T	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	749	+			94					A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	ENST00000261647.5	37	c.280G>A	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688773	0.29962	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	D	0.83419	-1.72	5.06	4.02	0.46733	.	0.498025	0.19407	N	0.115021	T	0.74313	0.3700	L	0.28115	0.83	0.26820	N	0.968808	.	.	.	.	.	.	T	0.62210	-0.6902	8	0.14656	T	0.56	-9.3213	12.296	0.54847	0.0:0.1872:0.8128:0.0	.	.	.	.	T	94;215;94	ENSP00000261647:A94T	ENSP00000261647:A215T	A	+	1	0	TTC19	15844252	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	2.821000	0.48065	2.355000	0.79922	0.549000	0.68633	GCA		0.731	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		17	105	0	0	0	1	0	17	105					A	15903527	G	A	15903527	3	1	89	1	0	0	0	0	1	0	0	0	16740	1203	42	2	649	2	TTC19	17	15903527	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8325988	15903527	65291683	168	33530											
RAI1	10743	broad.mit.edu	37	chr17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-													gaacctggtcttgcggagccGcagcagcagcagcagcaacg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				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)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	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.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		7	271						7	271	---	---	---	---	-	17699995	GCA	-	17699993	7	5	89	1	0	1	0	1	0	0	0	0	13057	1087	38	0	3733	0	RAI1	17	17699993	In_Frame_Del	DEL	GCA	TCGA-IB-A6UG-01A-32D-A33T-08	1796466	17699993	63495217	169	33531											
FBXW10	10517	broad.mit.edu	37	chr17	18671872	18671872	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccatgagggagccgTgaaatgcctgttctttgacc	13	10	1	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:18671872T>C	ENST00000395665.4	+	10	1951	c.1730T>C	c.(1729-1731)gTg>gCg	p.V577A	FBXW10_ENST00000395667.1_Missense_Mutation_p.V577A|FBXW10_ENST00000301938.4_Missense_Mutation_p.V577A|FBXW10_ENST00000308799.4_Missense_Mutation_p.V606A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	577										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAGGGAGCCGTGAAATGCCTG	0.527																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1816-1818)gTg>gCg		F-box and WD repeat domain containing 10							129	120	123					17																	18671872		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18671872T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1730T>C	17.37:g.18671872T>C	ENSP00000379025:p.Val577Ala					FBXW10_ENST00000301938.4_Missense_Mutation_p.V577A|FBXW10_ENST00000395667.1_Missense_Mutation_p.V577A|FBXW10_ENST00000395665.4_Missense_Mutation_p.V577A	p.V606A			Q5XX13	FBW10_HUMAN			9	2036	+			577					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.1817T>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095926	0.36952	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	2.97	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.081272	0.49305	U	0.000154	D	0.86439	0.5933	M	0.90542	3.125	0.42816	D	0.993975	D;D;D;D	0.89917	0.999;0.998;0.997;1.0	D;D;D;D	0.83275	0.991;0.99;0.992;0.996	D	0.87673	0.2542	10	0.87932	D	0	.	9.3557	0.38164	0.0:0.0:0.0:1.0	.	577;606;577;577	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	577;606;577;577	ENSP00000379026:V577A;ENSP00000310382:V606A;ENSP00000306937:V577A;ENSP00000379025:V577A	ENSP00000306937:V577A	V	+	2	0	FBXW10	18612597	1.000000	0.71417	0.971000	0.41717	0.150000	0.21749	6.656000	0.74396	1.356000	0.45884	0.163000	0.16589	GTG		0.527	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		5	291	0	0	0	1	0	5	291					C	18671872	T	C	18671872	3	2	89	1	0	0	0	0	1	0	0	0	5788	1696	59	4	1768	4	FBXW10	17	18671872	Missense_Mutation	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	971879	18671872	62523338	170	33532											
KCNJ12	3768	broad.mit.edu	37	chr17	21319100	21319100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccatcggctacgggctgcGctgtgtgacggaggagtgcc	16	12	0	1	rs534524767	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:21319100G>A	ENST00000583088.1	+	3	1341	c.446G>A	c.(445-447)cGc>cAc	p.R149H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R149H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	149					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)	TACGGGCTGCGCTGTGTGACG	0.642										Prostate(3;0.18)			.|||	5	0.000998403	0.0	0.0	5008	,	,		35116	0.0		0.0	False		,,,				2504	0.0051					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(445-447)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 12							55	53	54					17																	21319100		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319100G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.446G>A	17.37:g.21319100G>A	ENSP00000463778:p.Arg149His	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R149H	p.R149H	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1341	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.446G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998856	0.93227	.	.	ENSG00000184185	ENST00000331718	D	0.97016	-4.21	5.32	5.32	0.75619	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99663	1.0994	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	149	Q14500	IRK12_HUMAN	H	149	ENSP00000328150:R149H	ENSP00000328150:R149H	R	+	2	0	KCNJ12	21259693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	CGC		0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		16	292	0	0	0	1	0	16	292					A	21319100	G	A	21319100	3	1	89	1	0	0	0	0	1	0	0	0	8076	1087	38	1	448	1	KCNJ12	17	21319100	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2647228	21319100	59876110	171	33533											
GIT1	28964	broad.mit.edu	37	chr17	27908966	27908966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcatagtcaatgggtgtgCggccattaacatcaggggag	15	7	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:27908966C>T	ENST00000225394.3	-	5	850	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GIT1_ENST00000394869.3_Missense_Mutation_p.R201H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R201H|GIT1_ENST00000581348.1_Missense_Mutation_p.R201H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	201					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AATGGGTGTGCGGCCATTAAC	0.627																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(601-603)cGc>cAc		G protein-coupled receptor kinase interacting ArfGAP 1							67	55	59					17																	27908966		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27908966C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.602G>A	17.37:g.27908966C>T	ENSP00000225394:p.Arg201His					GIT1_ENST00000394869.3_Missense_Mutation_p.R201H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R201H|GIT1_ENST00000581348.1_Missense_Mutation_p.R201H	p.R201H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	5	850	-			201					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.602G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063141	0.76187	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.66460	-0.21;-0.21	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.45470	1.425	0.51012	D	0.999901	P;P;P;P	0.39250	0.665;0.482;0.538;0.538	B;B;B;B	0.37650	0.255;0.094;0.153;0.108	T	0.67381	-0.5685	10	0.56958	D	0.05	.	18.7075	0.91644	0.0:1.0:0.0:0.0	.	205;201;201;201	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	201	ENSP00000225394:R201H;ENSP00000378338:R201H	ENSP00000225394:R201H	R	-	2	0	GIT1	24933092	0.094000	0.21725	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	2.826000	0.97356	0.655000	0.94253	CGC		0.627	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		5	325	0	0	0	1	0	5	325					T	27908966	C	T	27908966	3	4	89	1	0	0	0	0	1	0	0	0	6425	768	27	1	1778	1	GIT1	17	27908966	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	6589866	27908966	53286244	172	33534											
SLFN11	91607	broad.mit.edu	37	chr17	33690685	33690685	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taataaagcacatgcagcccGcataactctctccttctctt	4	14	2	0	rs192676350		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:33690685G>A	ENST00000394566.1	-	4	414	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48W	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	48					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)		CATGCAGCCCGCATAACTCTC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18185	0.001		0.0	False		,,,				2504	0.0					ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(142-144)Cgg>Tgg		schlafen family member 11							135	138	137					17																	33690685		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690685G>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.142C>T	17.37:g.33690685G>A	ENSP00000378067:p.Arg48Trp					SLFN11_ENST00000308377.4_Missense_Mutation_p.R48W	p.R48W	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	414	-		Ovarian(249;0.17)	48					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.142C>T	CCDS11294.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.14	2.746498	0.49257	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.25085	4.4;4.4;1.82;2.14;1.82	4.0	-3.81	0.04294	.	0.822637	0.09913	N	0.739573	T	0.23410	0.0566	M	0.62723	1.935	0.09310	N	1	D	0.69078	0.997	P	0.46144	0.505	T	0.20874	-1.0262	10	0.87932	D	0	.	2.4366	0.04485	0.0925:0.2608:0.2899:0.3568	.	48	Q7Z7L1	SLN11_HUMAN	W	48	ENSP00000312402:R48W;ENSP00000378067:R48W;ENSP00000397454:R48W;ENSP00000393615:R48W;ENSP00000395140:R48W	ENSP00000312402:R48W	R	-	1	2	SLFN11	30714798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.548000	0.02184	-0.228000	0.09869	-0.136000	0.14681	CGG		0.458	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	839	0	0	0	1	0	7	839					A	33690685	G	A	33690685	3	1	89	1	0	0	0	0	1	0	0	0	14783	1086	38	1	2579	1	SLFN11	17	33690685	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	5781719	33690685	47504525	173	33535											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	7	17	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	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_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_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																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	495	0	0	0	1	0	5	495					A	38240101	G	A	38240101	3	1	89	1	0	0	0	0	1	0	0	0	15925	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4549416	38240101	42955109	174	33536											
KRT17	3872	broad.mit.edu	37	chr17	39780468	39780468	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcacgcaccttgtccagGtaggaggccaggcggtcatt	15	11	1	0	rs267607416|rs57674130|rs267607414		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:39780468G>A	ENST00000311208.8	-	1	361	c.294C>T	c.(292-294)taC>taT	p.Y98Y	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	98	Coil 1A.|Rod.		Missing (in PC2).|Y -> D (in PC2). {ECO:0000269|PubMed:9008238}.	Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCTTGTCCAGGTAGGAGGCCA	0.637																																					Pancreas(92;1242 2086 39193 50508)	ENST00000311208.8																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(292-294)taC>taT		keratin 17							91	99	96					17																	39780468		2203	4298	6501	SO:0001819	synonymous_variant	3872				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780468G>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.294C>T	17.37:g.39780468G>A						JUP_ENST00000540235.1_Intron	p.Y98Y	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN			1	361	-		Breast(137;0.000307)	98	Missing (in Ref. 5; AAH72018).	Missing (in PC2).|Y -> D (in PC2).	Coil 1A.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	c.294C>T	CCDS11402.1																																																																																				0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		6	970	0	0	0	1	0	6	970					A	39780468	G	A	39780468	2	1	89	1	0	0	0	0	0	0	0	1	8484	1256	44	2		2	KRT17	17	39780468	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1540367	39780468	41414742	175	33537											
CACNA1G	8913	broad.mit.edu	37	chr17	48649968	48649968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacagagaacgaggatgagaGccccttcatctgctcccagc	11	13	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:48649968G>A	ENST00000359106.5	+	6	800	c.800G>A	c.(799-801)aGc>aAc	p.S267N	CACNA1G_ENST00000515765.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S267N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	267					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)	GAGGATGAGAGCCCCTTCATC	0.667																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(799-801)aGc>aAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						19	21	20					17																	48649968		2083	4207	6290	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649968G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.800G>A	17.37:g.48649968G>A	ENSP00000352011:p.Ser267Asn					CACNA1G_ENST00000507896.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S267N	p.S267N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1172	+	Breast(11;6.7e-17)		267					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.800G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	5.134	0.210390	0.09757	.	.	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	0.96522	-3.9;-3.9;-4.04;-3.84;-3.9;-3.91;-3.92;-4.01;-3.98;-3.99;-4.0;-3.87;-3.87;-3.94;-3.89;-3.85;-3.92;-3.89;-3.87;-3.92;-3.91;-3.87;-3.93;-3.87;-3.94;-3.94	5.36	4.37	0.52481	Ion transport (1);	0.547135	0.21976	N	0.066369	D	0.85991	0.5826	N	0.03608	-0.345	0.24066	N	0.995992	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.15052	0.008;0.003;0.003;0.003;0.007;0.002;0.012;0.007;0.012;0.006;0.005;0.002;0.001;0.005;0.012;0.002;0.006;0.001;0.003;0.003;0.003;0.003;0.003;0.001;0.001;0.003	T	0.73662	-0.3912	10	0.02654	T	1	.	7.0875	0.25266	0.3255:0.0:0.6745:0.0	.	267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267	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;.;.	N	267	ENSP00000353990:S267N;ENSP00000339302:S267N;ENSP00000392390:S267N;ENSP00000347078:S267N;ENSP00000409759:S267N;ENSP00000425522:S267N;ENSP00000426261:S267N;ENSP00000425451:S267N;ENSP00000422407:S267N;ENSP00000426814:S267N;ENSP00000427238:S267N;ENSP00000423112:S267N;ENSP00000420918:S267N;ENSP00000426172:S267N;ENSP00000423045:S267N;ENSP00000427173:S267N;ENSP00000426098:S267N;ENSP00000425698:S267N;ENSP00000426232:S267N;ENSP00000423317:S267N;ENSP00000350979:S267N;ENSP00000352011:S267N;ENSP00000414388:S267N;ENSP00000423155:S267N;ENSP00000422268:S267N;ENSP00000421518:S267N	ENSP00000339302:S267N	S	+	2	0	CACNA1G	46004967	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.681000	0.46926	1.156000	0.42514	0.505000	0.49811	AGC		0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	51	0	0	0	1	0	4	51					A	48649968	G	A	48649968	3	1	89	1	0	0	0	0	1	0	0	0	2551	971	34	2	822	2	CACNA1G	17	48649968	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	8869500	48649968	32545242	176	33538											
ANKRD30B	374860	broad.mit.edu	37	chr18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaatccaaacaaaaggacGatgaagaaaattcttgggat	9	6	1	3	rs372948852		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171	145	152					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	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.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	156	1	0	1.06961e-07	1	1.08552e-07	5	156					T	14787073	G	T	14787073	3	4	89	1	0	0	0	0	1	0	0	0	659	1058	37	3	1766	3	ANKRD30B	18	14787073	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		14787073	63290175	177	33539											
DSC1	1823	broad.mit.edu	37	chr18	28723623	28723623	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tagagaggtatactcacagaAgtttctgtgaaagatggtgg	13	4	2	4			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28723623A>T	ENST00000257198.5	-	8	1332	c.1071T>A	c.(1069-1071)acT>acA	p.T357T	DSC1_ENST00000257197.3_Silent_p.T357T|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACTCACAGAAGTTTCTGTGA	0.358																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1069-1071)acT>acA		desmocollin 1							110	105	106					18																	28723623		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28723623A>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1071T>A	18.37:g.28723623A>T						RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.T357T	p.T357T	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		8	1332	-			357			Cadherin 3.		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.1071T>A	CCDS11894.1																																																																																				0.358	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		18	167	0	0	0	1	0	18	167					T	28723623	A	T	28723623	2	4	89	1	0	0	0	0	0	0	0	1	4781	59	3	5		5	DSC1	18	28723623	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	13936550	28723623	49353625	178	33540											
DSG4	147409	broad.mit.edu	37	chr18	28968349	28968349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattcgatcagactgcgaatCgaaccagaagataacatacc	8	10	1	3	rs36040686	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28968349C>T	ENST00000308128.4	+	4	371	c.236C>T	c.(235-237)tCg>tTg	p.S79L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S79L|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			GACTGCGAATCGAACCAGAAG	0.418													C|||	22	0.00439297	0.0061	0.0029	5008	,	,		19389	0.0		0.005	False		,,,				2504	0.0072					ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(235-237)tCg>tTg		desmoglein 4		C	LEU/SER,LEU/SER	17,4389	24.3+/-50.5	0,17,2186	90	79	83		236,236	-1.7	0.5	18	dbSNP_126	83	46,8552	30.7+/-82.3	1,44,4254	yes	missense,missense	DSG4	NM_001134453.1,NM_177986.3	145,145	1,61,6440	TT,TC,CC		0.535,0.3858,0.4845	benign,benign	79/1060,79/1041	28968349	63,12941	2203	4299	6502	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968349C>T	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.236C>T	18.37:g.28968349C>T	ENSP00000311859:p.Ser79Leu					DSG4_ENST00000308128.4_Missense_Mutation_p.S79L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.S79L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	265	+			79			Cadherin 1.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.236C>T	CCDS11897.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	3.600	-0.081781	0.07141	0.003858	0.00535	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.50548	0.74;0.74	5.73	-1.72	0.08107	Cadherin (4);Cadherin-like (1);	1.212930	0.06449	N	0.727362	T	0.29458	0.0734	L	0.41492	1.28	0.09310	N	0.999999	B;B	0.21309	0.0;0.054	B;B	0.23419	0.001;0.046	T	0.39440	-0.9614	10	0.54805	T	0.06	.	6.5359	0.22352	0.1368:0.358:0.0:0.5052	rs36040686	79;79	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	79	ENSP00000311859:S79L;ENSP00000352785:S79L	ENSP00000311859:S79L	S	+	2	0	DSG4	27222347	0.000000	0.05858	0.473000	0.27253	0.024000	0.10985	-0.768000	0.04715	-0.177000	0.10690	-0.143000	0.13931	TCG		0.418	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		14	177	0	0	0	1	0	14	177					T	28968349	C	T	28968349	3	4	89	1	0	0	0	0	1	0	0	0	4795	893	31	1	250	1	DSG4	18	28968349	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	244726	28968349	49108899	179	33541											
DSG4	147409	broad.mit.edu	37	chr18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccgttggcctcatggccGcaggggccgcaggagcctca	15	15	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28991295G>A	ENST00000308128.4	+	15	2374	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A766T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					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)	p.A747T(1)|p.A766T(1)		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)			CCTCATggccgcaggggccgc	0.612																																						ENST00000359747.4																			2	Substitution - Missense(2)	p.A747T(1)|p.A766T(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2296-2298)Gca>Aca		desmoglein 4							55	54	54					18																	28991295		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991295G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2239G>A	18.37:g.28991295G>A	ENSP00000311859:p.Ala747Thr					DSG4_ENST00000308128.4_Missense_Mutation_p.A747T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.A766T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2325	+			747					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2296G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081746	0.20309	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.97	3.21	0.36854	.	1.875210	0.03665	N	0.243122	T	0.47303	0.1438	L	0.46157	1.445	0.09310	N	1	B;B	0.19445	0.035;0.036	B;B	0.15870	0.014;0.012	T	0.23013	-1.0200	10	0.33141	T	0.24	.	6.4264	0.21772	0.2094:0.1314:0.6592:0.0	.	766;747	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	747;766	ENSP00000311859:A747T;ENSP00000352785:A766T	ENSP00000311859:A747T	A	+	1	0	DSG4	27245293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.646000	0.24797	0.413000	0.25759	-0.727000	0.03589	GCA		0.612	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		5	377	0	0	0	1	0	5	377					A	28991295	G	A	28991295	3	1	89	1	0	0	0	0	1	0	0	0	4795	1087	38	1	2418	1	DSG4	18	28991295	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	22946	28991295	49085953	180	33542											
MCART2	147407	broad.mit.edu	37	chr18	29340508	29340508	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgttgttgaaggctgcAcagcagccacacaagtaatg	12	10	0	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:29340508A>G	ENST00000579441.2	-	1	116	c.117T>C	c.(115-117)tgT>tgC	p.C39C	SLC25A52_ENST00000269205.5_Silent_p.C49C			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	39					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TGAAGGCTGCACAGCAGCCAC	0.428																																						ENST00000269205.5																			0											c.(145-147)tgT>tgC		solute carrier family 25, member 52							97	94	95					18																	29340508		2203	4300	6503	SO:0001819	synonymous_variant	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340508A>G		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.117T>C	18.37:g.29340508A>G						SLC25A52_ENST00000579441.2_Silent_p.C39C	p.C49C	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	335	-			39						Silent	SNP	ENST00000579441.2	37	c.147T>C																																																																																					0.428	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		5	557	0	0	0	1	0	5	557					G	29340508	A	G	29340508	2	3	89	1	0	0	0	0	0	0	0	1	9411	157	6	4		4	MCART2	18	29340508	Silent	SNP	A	TCGA-IB-A6UG-01A-32D-A33T-08	349213	29340508	48736740	181	33543											
NOL4	8715	broad.mit.edu	37	chr18	31685089	31685089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcattagaaatcgtgtcacCgcttctcttggtaggaaggc	10	10	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Silent_p.A150A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						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						ATCGTGTCACCGCTTCTCTTG	0.393																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(448-450)gcG>gcA		nucleolar protein 4							175	163	167					18																	31685089		2203	4299	6502	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31685089C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.450G>A	18.37:g.31685089C>T						NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_Silent_p.A36A	p.A150A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			3	747	-			150					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.450G>A	CCDS11907.2																																																																																				0.393	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		19	313	0	0	0	1	0	19	313					T	31685089	C	T	31685089	2	4	89	1	0	0	0	0	0	0	0	1	10566	639	23	1		1	NOL4	18	31685089	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	2344581	31685089	46392159	182	33544											
ZNF24	7572	broad.mit.edu	37	chr18	32920384	32920384	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggcctgagccacagacgGcaaagttctcggagctggct	13	12	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:32920384G>A	ENST00000261332.6	-	2	410	c.231C>T	c.(229-231)tgC>tgT	p.C77C	ZNF24_ENST00000589881.1_Silent_p.C77C|ZNF24_ENST00000399061.3_Silent_p.C77C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	77	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCCACAGACGGCAAAGTTCTC	0.537																																					Colon(42;769 913 8916 19469 46270)	ENST00000589881.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(229-231)tgC>tgT		zinc finger protein 24							104	106	105					18																	32920384		2203	4300	6503	SO:0001819	synonymous_variant	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32920384G>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"-", "Zinc fingers, C2H2-type"	13032	protein-coding gene	gene with protein product		194534	"zinc finger protein 24 (KOX 17)"	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.231C>T	18.37:g.32920384G>A						ZNF24_ENST00000261332.6_Silent_p.C77C|ZNF24_ENST00000399061.3_Silent_p.C77C	p.C77C			P17028	ZNF24_HUMAN			1	234	-			77			SCAN box.		O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	ENST00000261332.6	37	c.231C>T	CCDS11912.1																																																																																				0.537	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		6	653	0	0	0	1	0	6	653					A	32920384	G	A	32920384	2	1	89	1	0	0	0	0	0	0	0	1	17845	1195	42	2		2	ZNF24	18	32920384	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1235295	32920384	45156864	183	33545											
GZMM	3004	broad.mit.edu	37	chr19	547338	547338	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgatcccccactcgcgcccGtacatggcctcactgcagag	10	17	1	2	rs368042562		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:547338G>A	ENST00000264553.3	+	2	152	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	38	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTCGCGCCCGTACATGGCCT	0.662																																						ENST00000264553.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(112-114)ccG>ccA		granzyme M (lymphocyte met-ase 1)		G		0,4406		0,0,2203	63	64	64		114	-7.3	0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMM	NM_005317.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		38/258	547338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:547338G>A		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"lymphocyte met-ase 1"	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.114G>A	19.37:g.547338G>A							p.P38P	NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	152	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	38			Peptidase S1.			Silent	SNP	ENST00000264553.3	37	c.114G>A	CCDS12031.1																																																																																				0.662	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		6	588	0	0	0	1	0	6	588					A	547338	G	A	547338	2	1	89	1	0	0	0	0	0	0	0	1	6949	1132	40	1		1	GZMM	19	547338	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		547338	58581645	184	33546											
SBNO2	22904	broad.mit.edu	37	chr19	1119153	1119153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggccacgatctccatggCgccaacgcccctgcggatgg	12	16	1	0	rs376023611		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1119153C>T	ENST00000361757.3	-	14	1621	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A462T	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	462					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)		ATCTCCATGGCGCCAACGCCC	0.667																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1384-1386)Gcc>Acc		strawberry notch homolog 2 (Drosophila)		C	THR/ALA,THR/ALA	0,4382		0,0,2191	28	33	32		1213,1384	4.2	1	19		32	1,8557		0,1,4278	no	missense,missense	SBNO2	NM_001100122.1,NM_014963.2	58,58	0,1,6469	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	405/1310,462/1367	1119153	1,12939	2191	4279	6470	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119153C>T	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.1384G>A	19.37:g.1119153C>T	ENSP00000354733:p.Ala462Thr					SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A462T	p.A462T	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1621	-		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)	462					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.1384G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368391	0.82463	0.0	1.17E-4	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.993	D	0.89565	0.3809	9	0.87932	D	0	-24.553	15.6769	0.77336	0.0:1.0:0.0:0.0	.	462;462;405	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	T	462;405;486	.	ENSP00000250872:A486T	A	-	1	0	SBNO2	1070153	1.000000	0.71417	0.986000	0.45419	0.416000	0.31233	7.514000	0.81750	2.160000	0.67779	0.462000	0.41574	GCC		0.667	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		9	51	0	0	0	1	0	9	51					T	1119153	C	T	1119153	3	4	89	1	0	0	0	0	1	0	0	0	13913	768	27	1	2792	1	SBNO2	19	1119153	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	571815	1119153	58009830	185	33547											
STK11	6794	broad.mit.edu	37	chr19	1207204	1207204	+	Splice_Site	DEL	T	T	-													gggaggccaacgtgaagaagTaagtatggcttgctggggtc					rs587782096|rs112235354		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1207204delT	ENST00000326873.7	+	1	1463		c.e1+2		STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						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.?(3)		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)		CGTGAAGAAGTAAGTATGGCT	0.597		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"D, Mis, N, F, S"	serine/threonine kinase 11 gene (LKB1)			"E, M, O"		"jejunal harmartoma, ovarian, testicular, pancreatic"	"NSCLC, pancreatic"		23	Whole gene deletion(20)|Unknown(3)	p.0?(20)|p.?(3)	cervix(15)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.e1+2		serine/threonine kinase 11							20	22	22					19																	1207204		1975	4132	6107	SO:0001630	splice_region_variant	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1207204delT	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.290+2T>-	19.37:g.1207204delT		TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_Intron		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1463	+		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)						B2RBX7|E7EW76	Splice_Site	DEL	ENST00000326873.7	37		CCDS45896.1																																																																																				0.597	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	Intron	15	56						15	56	---	---	---	---	-	1207204	T	-	1207204	8	5	89	1	0	1	0	1	0	0	1	0	15339	1652	57	0	294	0	STK11	19	1207204	Splice_Site	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	88051	1207204	57921779	186	33548											
PIAS4	51588	broad.mit.edu	37	chr19	4033577	4033577	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaccagctcatcatcgacGggtgagcccggggccccggg	15	15	2	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:4033577G>A	ENST00000262971.2	+	9	1256	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	381					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G381R(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCGACGGGTGAGCCCG	0.672																																						ENST00000262971.2																			1	Substitution - Missense(1)	p.G381R(1)	skin(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.e9+1		protein inhibitor of activated STAT, 4							19	18	18					19																	4033577		2199	4296	6495	SO:0001630	splice_region_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4033577G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1142+1G>A	19.37:g.4033577G>A							p.G381_splice	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1256	+			381					O75926|Q96G19|Q9UN16	Splice_Site	SNP	ENST00000262971.2	37	c.1142_splice	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732488	0.69189	.	.	ENSG00000105229	ENST00000262971	T	0.15487	2.42	3.95	3.95	0.45737	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.000000	0.85682	U	0.000000	T	0.44871	0.1314	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54721	-0.8251	10	0.87932	D	0	-26.8132	14.9977	0.71446	0.0:0.0:1.0:0.0	.	381	Q8N2W9	PIAS4_HUMAN	R	381	ENSP00000262971:G381R	ENSP00000262971:G381R	G	+	1	0	PIAS4	3984577	1.000000	0.71417	0.801000	0.32222	0.314000	0.28054	9.755000	0.98912	1.762000	0.52044	0.491000	0.48974	GGG		0.672	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897	Missense_Mutation	10	63	0	0	0	1	0	10	63					A	4033577	G	A	4033577	5	1	89	1	0	0	0	0	0	0	1	0	11920	1130	39	1	1175	1	PIAS4	19	4033577	Splice_Site	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2826373	4033577	55095406	187	33549											
RAVER1	112812	broad.mit.edu	37	chr19	10428271	10428271	+	5'Flank	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtttctggccgcccagTggggtctggagacagagggc	17	11	2	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:10428271T>A	ENST00000393708.3	-	0	0				FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_5'Flank|FDX1L_ENST00000494368.1_5'Flank|RAVER1_ENST00000293677.6_Silent_p.P710P|CTD-2369P2.10_ENST00000452032.2_5'Flank|CTD-2369P2.12_ENST00000586529.1_Silent_p.P111P	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)			GGCCGCCCAGTGGGGTCTGGA	0.736																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(2128-2130)ccA>ccT		ribonucleoprotein, PTB-binding 1							14	16	15					19																	10428271		1891	4078	5969	SO:0001631	upstream_gene_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10428271T>A	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.10428271T>A	Exception_encountered					CTD-2369P2.12_ENST00000586529.1_Silent_p.P111P	p.P710P	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		13	2211	-			537					Q8N8B8	Silent	SNP	ENST00000393708.3	37	c.2130A>T	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901402	0.33535	.	.	ENSG00000161847	ENST00000331131	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09250	-1.0683	7	0.59425	D	0.04	-4.598	6.2772	0.20987	0.0844:0.2019:0.505:0.2088	.	567	Q8IY67	RAVR1_HUMAN	L	567	.	ENSP00000327543:H567L	H	-	2	0	RAVER1	10289271	0.052000	0.20516	0.853000	0.33588	0.985000	0.73830	-1.405000	0.02492	-1.698000	0.01418	0.459000	0.35465	CAC		0.736	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			29	90	0	0	0	1	0	29	90					A	10428271	T	A	10428271	1	1	89	0	1	0	0	0	0	0	0	0	13144	1683	59	5		5	RAVER1	19	10428271	5'Flank	SNP	T	TCGA-IB-A6UG-01A-32D-A33T-08	6394694	10428271	48700712	188	33550											
TSHZ3	57616	broad.mit.edu	37	chr19	31769759	31769759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtggcagggatgattttggCggcgacaggagtgacgggtt	19	5	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:31769759C>T	ENST00000240587.4	-	2	1267	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					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.A314T(1)|p.A131T(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)					ATGATTTTGGCGGCGACAGGA	0.537																																						ENST00000240587.4																			2	Substitution - Missense(2)	p.A314T(1)|p.A131T(1)	large_intestine(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(940-942)Gcc>Acc		teashirt zinc finger homeobox 3							88	89	89					19																	31769759		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769759C>T	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.940G>A	19.37:g.31769759C>T	ENSP00000240587:p.Ala314Thr						p.A314T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1267	-	Esophageal squamous(110;0.226)		314					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.940G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449292	0.01080	.	.	ENSG00000121297	ENST00000240587	T	0.11821	2.74	5.46	3.34	0.38264	.	0.108055	0.64402	N	0.000007	T	0.07324	0.0185	N	0.16790	0.44	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14587	-1.0467	10	0.07325	T	0.83	-21.948	11.5359	0.50636	0.0:0.8554:0.0:0.1446	.	314	Q63HK5	TSH3_HUMAN	T	314	ENSP00000240587:A314T	ENSP00000240587:A314T	A	-	1	0	TSHZ3	36461599	1.000000	0.71417	0.875000	0.34327	0.217000	0.24651	5.772000	0.68889	1.294000	0.44707	-0.150000	0.13652	GCC		0.537	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	562	0	0	0	1	0	7	562					T	31769759	C	T	31769759	3	4	89	1	0	0	0	0	1	0	0	0	16678	768	27	1	2309	1	TSHZ3	19	31769759	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	21341488	31769759	27359224	189	33551											
CYP2F1	1572	broad.mit.edu	37	chr19	41633864	41633864	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctctttctgtacctcacCgccatcctgcagagcttttc	7	15	3	1	rs538039196	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					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						TGTACCTCACCGCCATCCTGC	0.647													c|||	3	0.000599042	0.0008	0.0	5008	,	,		16694	0.0		0.001	False		,,,				2504	0.001					ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(1351-1353)acC>acT		cytochrome P450, family 2, subfamily F, polypeptide 1							15	17	16					19																	41633864		2198	4286	6484	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41633864C>T	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.1353C>T	19.37:g.41633864C>T							p.T451T	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			10	1425	+			451					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1353C>T	CCDS12572.1																																																																																				0.647	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			4	188	0	0	0	1	0	4	188					T	41633864	C	T	41633864	2	4	89	1	0	0	0	0	0	0	0	1	4182	639	23	1		1	CYP2F1	19	41633864	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	9864105	41633864	17495119	190	33552											
GRIK5	2901	broad.mit.edu	37	chr19	42546729	42546729	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagctcgccaaccatgCccgtccaggagccgttgggc	13	14	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42546729C>T	ENST00000262895.3	-	11	1447	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	GRIK5_ENST00000301218.4_Missense_Mutation_p.G483D|GRIK5_ENST00000593562.1_Missense_Mutation_p.G483D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	483					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)				GCCAACCATGCCCGTCCAGGA	0.697																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1447-1449)gGc>gAc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						44	49	47					19																	42546729		2202	4297	6499	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42546729C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1448G>A	19.37:g.42546729C>T	ENSP00000262895:p.Gly483Asp					GRIK5_ENST00000301218.4_Missense_Mutation_p.G483D|GRIK5_ENST00000593562.1_Missense_Mutation_p.G483D	p.G483D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			11	1447	-		Prostate(69;0.059)	483					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1448G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610721	0.96637	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.95949	-3.86;-3.86	6.17	6.17	0.99709	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99107	1.0845	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	483	Q16478	GRIK5_HUMAN	D	483	ENSP00000262895:G483D;ENSP00000301218:G483D	ENSP00000262895:G483D	G	-	2	0	GRIK5	47238569	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.699000	0.84547	2.941000	0.99782	0.655000	0.94253	GGC		0.697	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			6	593	0	0	0	1	0	6	593					T	42546729	C	T	42546729	3	4	89	1	0	0	0	0	1	0	0	0	6807	739	26	2	1530	2	GRIK5	19	42546729	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	912865	42546729	16582254	191	33553											
CIC	23152	broad.mit.edu	37	chr19	42795450	42795450	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aggtggcacctgccccagcaCcagcccctgggaccaaggca	12	17	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42795450C>G	ENST00000575354.2	+	10	2570	c.2530C>G	c.(2530-2532)Cca>Gca	p.P844A	CIC_ENST00000572681.2_Missense_Mutation_p.P1753A|CIC_ENST00000160740.3_Missense_Mutation_p.P844A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	844	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)				TGCCCCAGCACCAGCCCCTGG	0.672			"Mis, F, S"		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"Mis, F, S"	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5257-5259)Cca>Gca		capicua transcriptional repressor							16	17	17					19																	42795450		2168	4216	6384	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795450C>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2530C>G	19.37:g.42795450C>G	ENSP00000458663:p.Pro844Ala					CIC_ENST00000575354.2_Missense_Mutation_p.P844A|CIC_ENST00000160740.3_Missense_Mutation_p.P844A	p.P1753A			Q96RK0	CIC_HUMAN			11	5325	+		Prostate(69;0.00682)	844					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.5257C>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943409	0.34283	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.16	1.44	0.22558	.	.	.	.	.	T	0.23210	0.0561	N	0.08118	0	0.26798	N	0.96927	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	8	0.87932	D	0	-1.575	9.4699	0.38835	0.1253:0.4976:0.3771:0.0	.	844	Q96RK0	CIC_HUMAN	A	844	.	ENSP00000160740:P844A	P	+	1	0	CIC	47487290	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	0.581000	0.23819	0.537000	0.28751	0.561000	0.74099	CCA		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	241	0	0	0	1	0	8	241					G	42795450	C	G	42795450	3	3	89	1	0	0	0	0	1	0	0	0	3433	507	18	5	2568	5	CIC	19	42795450	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	248721	42795450	16333533	192	33554											
PLAUR	5329	broad.mit.edu	37	chr19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-													tacctgggacgcaggtgtggAgcagcagcagcagcggcagc							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"CD molecules"	9053	protein-coding gene	gene with protein product	"urokinase-type plasminogen activator (uPA) receptor", "urokinase plasminogen activator surface receptor"	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.66	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		7	619						7	619	---	---	---	---	-	44174237	AGC	-	44174235	7	5	89	1	0	1	0	1	0	0	0	0	12065	304	11	0	1093	0	PLAUR	19	44174235	In_Frame_Del	DEL	AGC	TCGA-IB-A6UG-01A-32D-A33T-08	1378785	44174235	14954748	193	33555											
SLC1A5	6510	broad.mit.edu	37	chr19	47278927	47278927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgtgcttctcgactccGtacggtccacgtaattttgg	10	12	2	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:47278927G>A	ENST00000542575.2	-	8	2094	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SLC1A5_ENST00000412532.2_Missense_Mutation_p.T261M|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.T313M|SLC1A5_ENST00000434726.2_Missense_Mutation_p.T287M	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	489					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)	TCTCGACTCCGTACGGTCCAC	0.557																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1465-1467)aCg>aTg		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						123	110	115					19																	47278927		2203	4300	6503	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278927G>A	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.1466C>T	19.37:g.47278927G>A	ENSP00000444408:p.Thr489Met					SLC1A5_ENST00000412532.2_Missense_Mutation_p.T261M|SLC1A5_ENST00000594991.1_Missense_Mutation_p.T313M|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.T287M	p.T489M	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2094	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	489					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1466C>T	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461996	0.43736	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.65549	0.64;-0.16;-0.15	4.88	1.33	0.21861	.	1.752340	0.02522	N	0.092658	T	0.60881	0.2303	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51057	0.888;0.941;0.941	B;P;P	0.52514	0.405;0.701;0.701	T	0.53927	-0.8369	10	0.72032	D	0.01	-24.3981	7.7884	0.29106	0.079:0.0:0.6355:0.2855	.	287;489;489	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	M	489;287;261;496	ENSP00000444408:T489M;ENSP00000406532:T287M;ENSP00000397924:T261M	ENSP00000303623:T496M	T	-	2	0	SLC1A5	51970767	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.384000	0.20668	0.640000	0.30582	0.550000	0.68814	ACG		0.557	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			6	983	0	0	0	1	0	6	983					A	47278927	G	A	47278927	3	1	89	1	0	0	0	0	1	0	0	0	14485	1145	40	1	163	1	SLC1A5	19	47278927	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3104692	47278927	11850056	194	33556											
ZNF473	25888	broad.mit.edu	37	chr19	50548807	50548807	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccaacatcagaaaactcaCgctgcaaaaactacctctga	4	13	3	2	rs148474136	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:50548807C>T	ENST00000595661.1	+	6	1602	c.1107C>T	c.(1105-1107)caC>caT	p.H369H	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.H369H|ZNF473_ENST00000445728.3_Silent_p.H357H|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.H369H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	369	Interaction with SLBP/pre-mRNA complex.				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)		AGAAAACTCACGCTGCAAAAA	0.498																																						ENST00000595661.1																			0				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						c.(1105-1107)caC>caT		zinc finger protein 473		C	,	4,4402	8.1+/-20.4	0,4,2199	72	67	68		1107,1107	0.7	0	19	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	,	369/872,369/872	50548807	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548807C>T	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.1107C>T	19.37:g.50548807C>T						CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.H369H|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.H369H|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.H357H	p.H369H			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1602	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	369			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.1107C>T	CCDS33077.1																																																																																				0.498	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		16	429	0	0	0	1	0	16	429					T	50548807	C	T	50548807	2	4	89	1	0	0	0	0	0	0	0	1	17984	535	19	1		1	ZNF473	19	50548807	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	3269880	50548807	8580176	195	33557											
ACPT	93650	broad.mit.edu	37	chr19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-													gccaccctgctggacctctcCtgctgctgctgctgctggtg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)ctgdel	p.L20del	ACPT_ENST00000270594.3_In_Frame_Del_p.L20del|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						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)		TGGACCTCTCctgctgctgctgc	0.709																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(43-45)del		acid phosphatase, testicular				168,3966		7,154,1906						-0.3	0			15	194,7852		8,178,3837	no	coding	ACPT	NM_033068.2		15,332,5743	A1A1,A1R,RR		2.4111,4.0639,2.9721				362,11818				SO:0001651	inframe_deletion	93650					integral to membrane	acid phosphatase activity	g.chr19:51293714_51293716delCTG	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.43_45delCTG	19.37:g.51293723_51293725delCTG	ENSP00000270593:p.Leu20del					ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	43_45	+		all_neural(266;0.057)	20					C0H3P7|Q9BZG3|Q9BZG4	In_Frame_Del	DEL	ENST00000270593.1	37	c.43_45delCTG	CCDS12802.1																																																																																				0.709	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		7	64						7	64	---	---	---	---	-	51293716	CTG	-	51293714	7	5	89	1	0	1	0	1	0	0	0	0	168	680	24	0	45	0	ACPT	19	51293714	In_Frame_Del	DEL	CTG	TCGA-IB-A6UG-01A-32D-A33T-08	744907	51293714	7835269	196	33558											
KLK15	55554	broad.mit.edu	37	chr19	51330167	51330167	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gctcccagcggtcccaggctCgttgtgggacaccaggcccc	13	17	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:51330167C>G	ENST00000598239.1	-	3	478	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	KLK15_ENST00000596931.1_Missense_Mutation_p.E149Q|KLK15_ENST00000326856.4_Missense_Mutation_p.E149Q|KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q|KLK15_ENST00000416184.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2). {ECO:0000305}.		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)		GTCCCAGGCTCGTTGTGGGAC	0.687																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(445-447)Gag>Cag		kallikrein-related peptidase 15							28	30	29					19																	51330167		2202	4300	6502	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330167C>G	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.448G>C	19.37:g.51330167C>G	ENSP00000469315:p.Glu150Gln					KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.E150Q|KLK15_ENST00000596931.1_Missense_Mutation_p.E149Q	p.E149Q	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	574	-		all_neural(266;0.057)	150	SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).		Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.445G>C	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	9.453	1.091027	0.20471	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88741	-2.42	4.5	-5.03	0.02973	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.995620	0.02210	N	0.063038	T	0.81317	0.4797	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25719	0.132;0.003;0.002	B;B;B	0.34652	0.187;0.013;0.004	T	0.69060	-0.5245	10	0.15952	T	0.53	.	12.5901	0.56437	0.0:0.1856:0.0:0.8144	.	150;149;150	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	Q	150	ENSP00000301421:E150Q	ENSP00000301421:E150Q	E	-	1	0	KLK15	56021979	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.363000	0.07593	-0.801000	0.04427	0.555000	0.69702	GAG		0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		67	255	0	0	0	1	0	67	255					G	51330167	C	G	51330167	3	3	89	1	0	0	0	0	1	0	0	0	8433	893	31	5	334	5	KLK15	19	51330167	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	36453	51330167	7798816	197	33559											
SIGLEC5	8778	broad.mit.edu	37	chr19	52132769	52132769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggggctgagggcattccccGtccaggagaatgtgagaggt	18	8	0	3			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52132769G>A	ENST00000534261.2	-	4	941	c.542C>T	c.(541-543)aCg>aTg	p.T181M	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T181M|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T181M|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T181M			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	181	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)		GGCATTCCCCGTCCAGGAGAA	0.657																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(541-543)aCg>aTg		sialic acid binding Ig-like lectin 5							10	11	11					19																	52132769		2179	4236	6415	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52132769G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.542C>T	19.37:g.52132769G>A	ENSP00000473238:p.Thr181Met					SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T181M|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T181M	p.T181M			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	3	680	-		all_neural(266;0.0726)	181			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000534261.2	37	c.542C>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	g	2.485	-0.318873	0.05386	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.22743	1.94;1.94	3.83	-7.65	0.01281	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.012550	0.01183	N	0.007122	T	0.11067	0.0270	N	0.16266	0.395	0.09310	N	1	P	0.40660	0.726	B	0.39068	0.289	T	0.14364	-1.0475	10	0.15066	T	0.55	.	7.7193	0.28723	0.6524:0.0:0.1321:0.2155	.	181	O15389	SIGL5_HUMAN	M	181	ENSP00000222107:T181M;ENSP00000415200:T181M	ENSP00000222107:T181M	T	-	2	0	SIGLEC5	56824581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.692000	0.00198	-2.466000	0.00533	-0.948000	0.02665	ACG		0.657	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		25	64	0	0	0	1	0	25	64					A	52132769	G	A	52132769	3	1	89	1	0	0	0	0	1	0	0	0	14361	1145	40	1	1141	1	SIGLEC5	19	52132769	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	802602	52132769	6996214	198	33560											
ZNF480	147657	broad.mit.edu	37	chr19	52817449	52817449	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatagaattctctcaggCggagtggaaatgcctggacc	13	10	2	1	rs201346974	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52817449C>T	ENST00000595962.1	+	3	182	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF480_ENST00000334564.7_Missense_Mutation_p.A39V|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCTCAGGCGGAGTGGAAA	0.473													c|||	3	0.000599042	0.0	0.0	5008	,	,		16201	0.0		0.0	False		,,,				2504	0.0031					ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(115-117)gCg>gTg		zinc finger protein 480		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	179	149	159		116	0.9	0.3	19		159	0,8600		0,0,4300	no	missense	ZNF480	NM_144684.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	39/536	52817449	1,13005	2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52817449C>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.116C>T	19.37:g.52817449C>T	ENSP00000471754:p.Ala39Val					ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.A39V|CTD-2525I3.6_ENST00000594379.1_RNA	p.A39V	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	3	182	+			39			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.116C>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	5.169	0.216831	0.09810	2.27E-4	0.0	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.01725	4.67;4.67	2.04	0.945	0.19543	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	L	0.46157	1.445	0.22933	N	0.998546	P;B	0.40476	0.718;0.161	B;B	0.30782	0.038;0.12	T	0.47484	-0.9114	9	0.66056	D	0.02	.	6.0962	0.20021	0.7277:0.2723:0.0:0.0	.	39;39	F8WEZ9;Q8WV37	.;ZN480_HUMAN	V	61;39;39	ENSP00000417424:A39V;ENSP00000334164:A39V	ENSP00000334164:A39V	A	+	2	0	ZNF480	57509261	0.981000	0.34729	0.315000	0.25238	0.071000	0.16799	0.684000	0.25364	0.048000	0.15891	-0.602000	0.04101	GCG		0.473	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		77	641	0	0	0	1	0	77	641					T	52817449	C	T	52817449	3	4	89	1	0	0	0	0	1	0	0	0	17988	768	27	1	122	1	ZNF480	19	52817449	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	684680	52817449	6311534	199	33561											
PRPF31	26121	broad.mit.edu	37	chr19	54625963	54625963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcactggattacatccGcacggtcaaggtgagcgcag	12	11	1	1	rs147725190		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:54625963G>A	ENST00000321030.4	+	5	759	c.410G>A	c.(409-411)cGc>cAc	p.R137H	PRPF31_ENST00000419967.1_Missense_Mutation_p.R137H|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Missense_Mutation_p.R137H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	137					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATTACATCCGCACGGTCAAG	0.577																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(409-411)cGc>cAc		pre-mRNA processing factor 31		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	158	137	144		410	4.1	1	19	dbSNP_134	144	0,8600		0,0,4300	no	missense	PRPF31	NM_015629.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	137/500	54625963	1,13005	2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54625963G>A	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"PRP31 pre-mRNA processing factor 31 homolog (yeast)", "PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.410G>A	19.37:g.54625963G>A	ENSP00000324122:p.Arg137His					PRPF31_ENST00000419967.1_Missense_Mutation_p.R137H|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.R137H	p.R137H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			5	759	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		137					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.410G>A	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324578	0.60634	2.27E-4	0.0	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.13	4.1	0.47936	NOSIC (2);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.89715	3.055	0.53005	D	0.999969	D;D	0.65815	0.995;0.995	P;P	0.57548	0.823;0.823	D	0.92952	0.6381	10	0.72032	D	0.01	-19.4005	12.9157	0.58205	0.0808:0.0:0.9192:0.0	.	137;137	E7ESA8;Q8WWY3	.;PRP31_HUMAN	H	137	ENSP00000324122:R137H;ENSP00000395894:R137H;ENSP00000405166:R137H;ENSP00000408980:R137H;ENSP00000395089:R137H;ENSP00000375635:R137H	ENSP00000263436:R137H	R	+	2	0	PRPF31	59317775	1.000000	0.71417	0.989000	0.46669	0.035000	0.12851	8.667000	0.91153	1.302000	0.44855	-0.140000	0.14226	CGC		0.577	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			7	685	0	0	0	1	0	7	685					A	54625963	G	A	54625963	3	1	89	1	0	0	0	0	1	0	0	0	12613	1087	38	1	424	1	PRPF31	19	54625963	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	1808514	54625963	4503020	200	33562											
ZNF549	256051	broad.mit.edu	37	chr19	58049499	58049499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttattcattcctatgaccGcattcgacaccagagagttc	6	11	1	2	rs546163846		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58049499G>A	ENST00000376233.3	+	4	1308	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R363H|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	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)			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)		TCCTATGACCGCATTCGACAC	0.433																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1126-1128)cGc>cAc		zinc finger protein 549							67	63	64					19																	58049499		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049499G>A	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.1127G>A	19.37:g.58049499G>A	ENSP00000365407:p.Arg376His					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R363H	p.R376H	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1308	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	376					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1127G>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456252	0.43634	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15139	2.45;2.45	2.64	-5.28	0.02755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16471	0.0396	M	0.73598	2.24	0.09310	N	1	B;B	0.18863	0.0;0.031	B;B	0.12156	0.0;0.007	T	0.39623	-0.9605	9	0.87932	D	0	.	4.6998	0.12822	0.3606:0.0:0.142:0.4974	.	376;363	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	H	363;376	ENSP00000240719:R363H;ENSP00000365407:R376H	ENSP00000240719:R363H	R	+	2	0	ZNF549	62741311	0.001000	0.12720	0.000000	0.03702	0.575000	0.36095	0.804000	0.27098	-1.086000	0.03084	-0.350000	0.07774	CGC		0.433	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		5	317	0	0	0	1	0	5	317					A	58049499	G	A	58049499	3	1	89	1	0	0	0	0	1	0	0	0	18034	1087	38	1	1098	1	ZNF549	19	58049499	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	3423536	58049499	1079484	201	33563											
ZNF418	147686	broad.mit.edu	37	chr19	58437576	58437576	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtcgaaggagagaagagcttCgatgaaatgattttccacat	11	6	0	4	rs373108176		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58437576C>T	ENST00000396147.1	-	4	2264	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.R573Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.R658Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGAAGAGCTTCGATGAAATGA	0.413																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1972-1974)cGa>cAa		zinc finger protein 418		C	GLN/ARG	0,4404		0,0,2202	111	114	113		1973	-1.4	0	19		113	1,8597		0,1,4298	no	missense	ZNF418	NM_133460.1	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	658/677	58437576	1,13001	2202	4299	6501	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437576C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1973G>A	19.37:g.58437576C>T	ENSP00000379451:p.Arg658Gln					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.R658Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q|ZNF418_ENST00000599852.1_Missense_Mutation_p.R573Q	p.R658Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	2264	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	658					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1973G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	3.656	-0.070523	0.07228	0.0	1.16E-4	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07567	3.18;3.18	2.41	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.02334	-0.595	0.09310	N	1	B	0.24132	0.098	B	0.10450	0.005	T	0.44283	-0.9338	9	0.02654	T	1	.	6.7371	0.23415	0.0:0.4089:0.0:0.5911	.	658	Q8TF45	ZN418_HUMAN	Q	658;679;624	ENSP00000379451:R658Q;ENSP00000407039:R679Q	ENSP00000379451:R658Q	R	-	2	0	ZNF418	63129388	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-3.966000	0.00324	-0.253000	0.09514	0.313000	0.20887	CGA		0.413	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		13	504	0	0	0	1	0	13	504					T	58437576	C	T	58437576	3	4	89	1	0	0	0	0	1	0	0	0	17948	884	31	1	61	1	ZNF418	19	58437576	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	388077	58437576	691407	202	33564											
ZNF544	27300	broad.mit.edu	37	chr19	58773700	58773700	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catactggagagaaaccgtaCgattgcactcactgtggaaa	10	9	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58773700C>T	ENST00000596652.1	+	6	1962	c.1728C>T	c.(1726-1728)taC>taT	p.Y576Y	ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Silent_p.Y548Y|ZNF544_ENST00000599953.1_Silent_p.Y434Y|ZNF544_ENST00000269829.4_Silent_p.Y576Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000415203.2_Silent_p.Y548Y|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Silent_p.Y548Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		AGAAACCGTACGATTGCACTC	0.423																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1726-1728)taC>taT		zinc finger protein 544							87	85	86					19																	58773700		2203	4300	6503	SO:0001819	synonymous_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773700C>T	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.1728C>T	19.37:g.58773700C>T						CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Silent_p.Y434Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Silent_p.Y576Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Silent_p.Y548Y|ZNF544_ENST00000600220.1_Silent_p.Y548Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Silent_p.Y548Y	p.Y576Y	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2202	+		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)	576					A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	c.1728C>T	CCDS12973.1																																																																																				0.423	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		5	586	0	0	0	1	0	5	586					T	58773700	C	T	58773700	2	4	89	1	0	0	0	0	0	0	0	1	18030	547	19	1		1	ZNF544	19	58773700	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	336124	58773700	355283	203	33565											
RIN2	54453	broad.mit.edu	37	chr20	19970910	19970910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaaggtcatgctgctgCtgcgggtctgcaagctcatt	12	9	3	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:19970910C>A	ENST00000255006.6	+	9	2319	c.2170C>A	c.(2170-2172)Ctg>Atg	p.L724M	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.L242M	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	675	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CATGCTGCTGCTGCGGGTCTG	0.557																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(2170-2172)Ctg>Atg		Ras and Rab interactor 2							44	45	45					20																	19970910		2065	4206	6271	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19970910C>A	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.2170C>A	20.37:g.19970910C>A	ENSP00000255006:p.Leu724Met					RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.L242M	p.L724M	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			9	2319	+			675			VPS9.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.2170C>A	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845521	0.71603	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.36699	1.24;1.24	5.83	2.72	0.32119	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.88704	2.975	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64554	-0.6380	9	.	.	.	-20.4278	10.7252	0.46064	0.0:0.7838:0.0:0.2162	.	242;675	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	M	724;242	ENSP00000255006:L724M;ENSP00000391239:L242M	.	L	+	1	2	RIN2	19918910	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.382000	0.34374	0.313000	0.23062	-0.194000	0.12790	CTG		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			15	123	1	0	2.48551e-13	1	2.58986e-13	15	123					A	19970910	C	A	19970910	3	1	89	1	0	0	0	0	1	0	0	0	13422	796	28	3	2053	3	RIN2	20	19970910	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		19970910	43054610	204	33566											
INSM1	3642	broad.mit.edu	37	chr20	20349690	20349690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggccgcgcggggggcgCggcgcggccgctgggcgagt	25	13	0	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:20349690C>T	ENST00000310227.1	+	1	926	c.779C>T	c.(778-780)gCg>gTg	p.A260V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	260					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		gcggggggcgcggcgcggccg	0.716																																						ENST00000310227.1																			0				liver(1)|lung(3)|ovary(1)|prostate(1)	6						c.(778-780)gCg>gTg		insulinoma-associated 1							5	6	6					20																	20349690		1939	3835	5774	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349690C>T		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.779C>T	20.37:g.20349690C>T	ENSP00000312631:p.Ala260Val						p.A260V	NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	926	+			260						Missense_Mutation	SNP	ENST00000310227.1	37	c.779C>T	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	4.993	0.184394	0.09495	.	.	ENSG00000173404	ENST00000310227	T	0.00711	5.8	3.53	2.46	0.29980	.	0.183785	0.33553	U	0.004798	T	0.00496	0.0016	N	0.12182	0.205	0.24619	N	0.993683	B	0.33103	0.397	B	0.20184	0.028	T	0.53906	-0.8372	10	0.41790	T	0.15	.	6.9677	0.24632	0.0:0.5981:0.2959:0.1059	.	260	Q01101	INSM1_HUMAN	V	260	ENSP00000312631:A260V	ENSP00000312631:A260V	A	+	2	0	INSM1	20297690	0.003000	0.15002	0.122000	0.21767	0.349000	0.29174	1.908000	0.39907	1.699000	0.51192	0.306000	0.20318	GCG		0.716	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		13	70	0	0	0	1	0	13	70					T	20349690	C	T	20349690	3	4	89	1	0	0	0	0	1	0	0	0	7801	768	27	1	781	1	INSM1	20	20349690	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	378780	20349690	42675830	205	33567											
KCNB1	3745	broad.mit.edu	37	chr20	47989891	47989891	+	Frame_Shift_Del	DEL	G	G	-													tgtgtgtttctcaggagaccGggggggtgtcttagcacttg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:47989891delG	ENST00000371741.4	-	2	2372	c.2206delC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					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)	TCAGGAGACCGGGGGGGTGTC	0.562																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)ggfs		potassium voltage-gated channel, Shab-related subfamily, member 1							67	72	70					20																	47989891		2203	4300	6503	SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989891delG	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.2206delC	20.37:g.47989891delG	ENSP00000360806:p.Arg736fs						p.R736fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372	-			736					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.2206delC	CCDS13418.1																																																																																				0.562	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	575						7	575	---	---	---	---	-	47989891	G	-	47989891	7	5	89	1	0	1	0	1	0	0	0	0	8042	1115	39	0	374	0	KCNB1	20	47989891	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08	27640201	47989891	15035629	206	33568											
SALL4	57167	broad.mit.edu	37	chr20	50408526	50408526	+	Frame_Shift_Del	DEL	G	G	-													ggctaaatagcttatgtcctGgggggtgggtggcagggctg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:50408526delG	ENST00000217086.4	-	2	607	c.496delC	c.(496-498)cagfs	p.Q166fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	166					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						CTTATGTCCTGGGGGGTGGGT	0.577																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CM042108	SALL4	M		c.(496-498)agfs		spalt-like transcription factor 4							133	137	135					20																	50408526		2203	4300	6503	SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408526delG	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.496delC	20.37:g.50408526delG	ENSP00000217086:p.Gln166fs					SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	p.Q166fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	607	-			166					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	c.496delC	CCDS13438.1																																																																																				0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	1188						7	1188	---	---	---	---	-	50408526	G	-	50408526	7	5	89	1	0	1	0	1	0	0	0	0	13863	1357	47	0	2677	0	SALL4	20	50408526	Frame_Shift_Del	DEL	G	TCGA-IB-A6UG-01A-32D-A33T-08	2418635	50408526	12616994	207	33569											
DSCAM	1826	broad.mit.edu	37	chr21	41648061	41648061	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggacttgctgacgtctgcGcccacatcgttgctgacctt	10	13	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:41648061G>A	ENST00000400454.1	-	11	2796	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	773	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)				TGACGTCTGCGCCCACATCGT	0.483																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2317-2319)ggC>ggT		Down syndrome cell adhesion molecule							90	96	94					21																	41648061		2076	4253	6329	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648061G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2319C>T	21.37:g.41648061G>A							p.G773G	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			11	2796	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	773			Ig-like C2-type 8.		O60468	Silent	SNP	ENST00000400454.1	37	c.2319C>T	CCDS42929.1																																																																																				0.483	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		61	282	0	0	0	1	0	61	282					A	41648061	G	A	41648061	2	1	89	1	0	0	0	0	0	0	0	1	4784	1074	38	1		1	DSCAM	21	41648061	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		41648061	6481834	208	33570											
COL6A1	1291	broad.mit.edu	37	chr21	47423408	47423408	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcgccaagcgcctggcCgagcgcttcctcacagcggg	13	17	1	0			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:47423408C>T	ENST00000361866.3	+	35	2682	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	856	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGCGCCTGGCCGAGCGCTTCC	0.706																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2566-2568)gcC>gcT		collagen, type VI, alpha 1	Palifermin(DB00039)						17	20	19					21																	47423408		2188	4250	6438	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423408C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2568C>T	21.37:g.47423408C>T						COL6A1_ENST00000498614.1_3'UTR	p.A856A	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2682	+	all_hematologic(128;0.24)		856			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2568C>T	CCDS13727.1																																																																																				0.706	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		29	148	0	0	0	1	0	29	148					T	47423408	C	T	47423408	2	4	89	1	0	0	0	0	0	0	0	1	3708	639	23	1		1	COL6A1	21	47423408	Silent	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	5775347	47423408	706487	209	33571											
POTEH	23784	broad.mit.edu	37	chr22	16279226	16279226	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atccagtgcatttaaatttgCttttttcttgattaaaaatt	4	5	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:16279226C>A	ENST00000343518.6	-	4	1048	c.997G>T	c.(997-999)Gca>Tca	p.A333S	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	333										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTAAATTTGCTTTTTTCTTG	0.323																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(997-999)Gca>Tca		POTE ankyrin domain family, member H																																				SO:0001583	missense	23784							g.chr22:16279226C>A	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.997G>T	22.37:g.16279226C>A	ENSP00000340610:p.Ala333Ser						p.A333S	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1048	-			333					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.997G>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.059525	0.36373	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.61392	0.11	1.38	0.308	0.15815	Ankyrin repeat-containing domain (4);	0.217456	0.22410	U	0.060437	T	0.70116	0.3187	M	0.82823	2.61	0.09310	N	1	D;D	0.76494	0.976;0.999	D;D	0.87578	0.91;0.998	T	0.58306	-0.7659	10	0.72032	D	0.01	.	3.5736	0.07926	0.0:0.7344:0.0:0.2656	.	333;296	Q6S545;A6NKF6	POTEH_HUMAN;.	S	296;333	ENSP00000340610:A333S	ENSP00000340610:A333S	A	-	1	0	POTEH	14659226	0.302000	0.24454	0.001000	0.08648	0.061000	0.15899	1.944000	0.40263	0.148000	0.19059	0.175000	0.17021	GCA		0.323	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		34	2459	1	0	5.3912e-06	1	5.43099e-06	34	2459					A	16279226	C	A	16279226	3	1	89	1	0	0	0	0	1	0	0	0	12309	797	28	3	668	3	POTEH	22	16279226	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08		16279226	35025340	210	33572											
CLTCL1	8218	broad.mit.edu	37	chr22	19220769	19220769	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgcttggcacatttgcccGaaggtacacactcagagcga	10	11	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:19220769G>A	ENST00000263200.10	-	9	1513	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	481	Flexible linker.				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.R481W(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)					ACATTTGCCCGAAGGTACACA	0.498			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		1	Substitution - Missense(1)	p.R481W(1)	large_intestine(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						c.(1441-1443)Cgg>Tgg		clathrin, heavy chain-like 1							143	140	141					22																	19220769		1960	4163	6123	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19220769G>A		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.1441C>T	22.37:g.19220769G>A	ENSP00000445677:p.Arg481Trp					CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W	p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			9	1513	-	Colorectal(54;0.0993)		481			Flexible linker.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.1441C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276926	0.59758	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.52295	0.67;0.67;0.67	3.92	2.89	0.33648	Armadillo-type fold (2);	0.000000	0.64402	D	0.000002	T	0.72724	0.3496	M	0.93106	3.38	0.58432	D	0.999991	D;D	0.76494	0.997;0.999	D;D	0.74674	0.984;0.947	T	0.79072	-0.1953	10	0.87932	D	0	-21.811	11.9849	0.53142	0.0867:0.0:0.9133:0.0	.	481;481	P53675-2;P53675	.;CLH2_HUMAN	W	481	ENSP00000439662:R481W;ENSP00000445677:R481W;ENSP00000441158:R481W	ENSP00000445677:R481W	R	-	1	2	CLTCL1	17600769	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.512000	0.45485	0.982000	0.38575	0.591000	0.81541	CGG		0.498	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		6	737	0	0	0	1	0	6	737					A	19220769	G	A	19220769	3	1	89	1	0	0	0	0	1	0	0	0	3576	1057	37	1	3577	1	CLTCL1	22	19220769	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	2941543	19220769	32083797	211	33573											
RTDR1	27156	broad.mit.edu	37	chr22	23406095	23406095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctgacattaaggagcGcacgggcggccttgctgcgg	14	13	1	1			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23406095G>A	ENST00000216036.4	-	5	834	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		213										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATTAAGGAGCGCACGGGCGGC	0.632																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(637-639)gCg>gTg		rhabdoid tumor deletion region gene 1							68	61	64					22																	23406095		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23406095G>A																												ENST00000216036.4:c.638C>T	22.37:g.23406095G>A	ENSP00000216036:p.Ala213Val						p.A213V	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	834	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		213						Missense_Mutation	SNP	ENST00000216036.4	37	c.638C>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	5.511	0.279316	0.10458	.	.	ENSG00000100218	ENST00000216036	T	0.54279	0.58	4.71	1.43	0.22495	Armadillo-like helical (1);Armadillo-type fold (1);	1.325690	0.04962	N	0.462276	T	0.46521	0.1397	L	0.56769	1.78	0.09310	N	0.999997	B	0.29115	0.233	B	0.20384	0.029	T	0.22765	-1.0207	10	0.28530	T	0.3	-5.5588	6.8903	0.24226	0.3029:0.0:0.6971:0.0	.	213	Q9UHP6	RTDR1_HUMAN	V	213	ENSP00000216036:A213V	ENSP00000216036:A213V	A	-	2	0	RTDR1	21736095	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.081000	0.30791	0.169000	0.19679	0.555000	0.69702	GCG		0.632	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			4	245	0	0	0	1	0	4	245					A	23406095	G	A	23406095	3	1	89	1	0	0	0	0	1	0	0	0	13769	1087	38	1	420	1	RTDR1	22	23406095	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4185326	23406095	27898471	212	33574											
GNAZ	2781	broad.mit.edu	37	chr22	23438122	23438122	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctacaatgccatcgactcGctgacccgcatcatccgggc	8	16	2	1	rs143475223		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23438122G>A	ENST00000248996.4	+	2	906	c.240G>A	c.(238-240)tcG>tcA	p.S80S	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	80					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCATCGACTCGCTGACCCGCA	0.622																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(238-240)tcG>tcA		guanine nucleotide binding protein (G protein), alpha z polypeptide		G	,	1,4405	2.1+/-5.4	0,1,2202	155	160	158		240,	-8.1	0.9	22	dbSNP_134	158	0,8600		0,0,4300	no	coding-synonymous,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	80/356,	23438122	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438122G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.240G>A	22.37:g.23438122G>A						RTDR1_ENST00000216036.4_Intron	p.S80S	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	906	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		80					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.240G>A	CCDS13804.1																																																																																				0.622	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		57	1144	0	0	0	1	0	57	1144					A	23438122	G	A	23438122	2	1	89	1	0	0	0	0	0	0	0	1	6543	1074	38	1		1	GNAZ	22	23438122	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	32027	23438122	27866444	213	33575											
MYH9	4627	broad.mit.edu	37	chr22	36712651	36712651	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccttgttgatgcgcaGcaccagccagcggaacatcc	11	14	0	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:36712651G>A	ENST00000216181.5	-	12	1521	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	431	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGATGCGCAGCACCAGCCAG	0.607			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"myosin, heavy polypeptide 9, non-muscle"	yes	"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1291-1293)Ctg>Ttg		myosin, heavy chain 9, non-muscle							74	71	72					22																	36712651		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36712651G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1291C>T	22.37:g.36712651G>A							p.L431L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			12	1521	-			431			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1291C>T	CCDS13927.1																																																																																				0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		5	479	0	0	0	1	0	5	479					A	36712651	G	A	36712651	2	1	89	1	0	0	0	0	0	0	0	1	10083	962	34	2		2	MYH9	22	36712651	Silent	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	13274529	36712651	14591915	214	33576											
MCHR1	2847	broad.mit.edu	37	chr22	41077637	41077637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggacaaagagggtgacccGcacagccatcgccatctgtc	12	14	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:41077637G>A	ENST00000249016.4	+	2	1670	c.974G>A	c.(973-975)cGc>cAc	p.R325H	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R199H	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	325					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						AGGGTGACCCGCACAGCCATC	0.617																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(973-975)cGc>cAc		melanin-concentrating hormone receptor 1							91	74	79					22																	41077637		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077637G>A		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.974G>A	22.37:g.41077637G>A	ENSP00000249016:p.Arg325His					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R199H	p.R325H	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1670	+			325					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.974G>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747866	0.89663	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.40225	1.04;1.04	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.85630	2.765	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.73344	-0.4012	10	0.62326	D	0.03	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	325	Q99705	MCHR1_HUMAN	H	325;199	ENSP00000249016:R325H;ENSP00000370841:R199H	ENSP00000249016:R325H	R	+	2	0	MCHR1	39407583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.679000	0.74513	2.607000	0.88179	0.655000	0.94253	CGC		0.617	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		6	393	0	0	0	1	0	6	393					A	41077637	G	A	41077637	3	1	89	1	0	0	0	0	1	0	0	0	9423	1087	38	1	980	1	MCHR1	22	41077637	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08	4364986	41077637	10226929	215	33577											
ARFGAP3	26286	broad.mit.edu	37	chr22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-													ttctgagctcccaaacttccTtttttggccccaagctagaa							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aaafs	p.K229fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(685-687)aafs		ADP-ribosylation factor GTPase activating protein 3							126	120	122					22																	43218401		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43218401delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.687delA	22.37:g.43218401delT	ENSP00000263245:p.Lys229fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	p.K229fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			9	906	-			229					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.687delA	CCDS14042.1																																																																																				0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		7	722						7	722	---	---	---	---	-	43218401	T	-	43218401	7	5	89	1	0	1	0	1	0	0	0	0	851	1606	56	0	895	0	ARFGAP3	22	43218401	Frame_Shift_Del	DEL	T	TCGA-IB-A6UG-01A-32D-A33T-08	2140764	43218401	8086165	216	33578											
YY2	404281	broad.mit.edu	37	chrX	21875407	21875407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagatgttccgggattacGccgccatgagaaaacatctc	9	10	1	2			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:21875407G>A	ENST00000429584.2	+	1	1303	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				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)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCGGGATTACGCCGCCATGAG	0.498																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)Gcc>Acc		YY2 transcription factor							120	121	120					X																	21875407		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875407G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"Zinc fingers, C2H2-type"	31684	protein-coding gene	gene with protein product	"transcription factor yin yang 2"	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.805G>A	X.37:g.21875407G>A	ENSP00000389381:p.Ala269Thr					MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	p.A269T	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1303	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.805G>A	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	8.818	0.936828	0.18206	.	.	ENSG00000230797	ENST00000429584	T	0.09911	2.93	4.52	-4.78	0.03209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.04815	0.0130	N	0.12887	0.27	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.26503	-1.0101	10	0.66056	D	0.02	.	9.1848	0.37163	0.0:0.0806:0.4624:0.457	.	269	O15391	TYY2_HUMAN	T	269	ENSP00000389381:A269T	ENSP00000389381:A269T	A	+	1	0	YY2	21785328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.195000	0.17155	-0.747000	0.04759	-1.198000	0.01671	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	548	0	0	0	1	0	5	548					A	21875407	G	A	21875407	3	1	89	1	0	0	0	0	1	0	0	0	17563	1087	38	1	807	1	YY2	23	21875407	Missense_Mutation	SNP	G	TCGA-IB-A6UG-01A-32D-A33T-08		21875407	133395153	217	33579											
SHROOM4	57477	broad.mit.edu	37	chrX	50376908	50376908	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accatctccaatgacctccaCggactccacagtgagcatgt	7	15	1	2	rs3761506	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:50376908C>T	ENST00000289292.7	-	4	2448	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R606H|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R722H			Q9ULL8	SHRM4_HUMAN	shroom family member 4	722			R -> H (in dbSNP:rs3761506).		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)					ATGACCTCCACGGACTCCACA	0.557													C|||	18	0.00476821	0.0	0.0014	3775	,	,		14433	0.0169		0.0	False		,,,				2504	0.0					ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2164-2166)cGt>cAt		shroom family member 4		C	HIS/ARG	5,3830		0,5,1627,571	57	43	47		2165	-2.1	0	X	dbSNP_107	47	0,6728		0,0,2428,1872	yes	missense	SHROOM4	NM_020717.3	29	0,5,4055,2443	TT,TC,CC,C		0.0,0.1304,0.0473	possibly-damaging	722/1494	50376908	5,10558	2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376908C>T	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.2165G>A	X.37:g.50376908C>T	ENSP00000289292:p.Arg722His					SHROOM4_ENST00000460112.3_Missense_Mutation_p.R606H|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R722H	p.R722H	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	2190	-	Ovarian(276;0.236)		722		R -> H (in dbSNP:rs3761506).			A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2165G>A	CCDS35277.1	9	0.0054249547920434	0	0.0	0	0.0	9	0.01584507042253521	0	0.0	C	0.008	-1.928348	0.00493	0.001304	0.0	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88046	-2.33;-2.33;-2.33	5.52	-2.07	0.07276	.	2.325820	0.00911	N	0.002463	T	0.65647	0.2711	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.60016	-0.7345	10	0.13470	T	0.59	.	6.0462	0.19762	0.1932:0.4336:0.0:0.3732	rs3761506;rs52829651;rs3761506	722	Q9ULL8	SHRM4_HUMAN	H	722;722;606	ENSP00000289292:R722H;ENSP00000365188:R722H;ENSP00000421450:R606H	ENSP00000289292:R722H	R	-	2	0	SHROOM4	50393648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.524000	0.06222	-1.613000	0.01577	-3.241000	0.00051	CGT		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		29	94	0	0	0	1	0	29	94					T	50376908	C	T	50376908	3	4	89	1	0	0	0	0	1	0	0	0	14346	536	19	1	2340	1	SHROOM4	23	50376908	Missense_Mutation	SNP	C	TCGA-IB-A6UG-01A-32D-A33T-08	28501501	50376908	104893652	218	33580											
AR	367	broad.mit.edu	37	chrX	66765159	66765164	+	In_Frame_Del	DEL	GCAGCA	GCAGCA	-													ggcgccagtttgctgctgctGcagcagcagcagcagcagca					rs200185441		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:66765159_66765164delGCAGCA	ENST00000374690.3	+	1	695_700	c.171_176delGCAGCA	c.(169-177)ctgcagcag>ctg	p.QQ78del	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.QQ78del|AR_ENST00000396044.3_In_Frame_Del_p.QQ78del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcagcag	0.665									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CI065812|CM033749|CM054646	AR	I|M	rs5902610	c.(169-177)ctg>ct		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)																																			SO:0001651	inframe_deletion	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765159_66765164delGCAGCA	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.171_176delGCAGCA	X.37:g.66765165_66765170delGCAGCA	ENSP00000363822:p.Gln78_Gln79del					AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_In_Frame_Del_p.LQQ57del|AR_ENST00000504326.1_In_Frame_Del_p.LQQ57del	p.LQQ57del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	695_700	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Modulating.|Poly-Leu.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.171_176delGCAGCA	CCDS14387.1																																																																																				0.665	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		15	149						15	149	---	---	---	---	-	66765164	GCAGCA	-	66765159	7	5	89	1	0	1	0	1	0	0	0	0	836	1306	46	0	173	0	AR	23	66765159	In_Frame_Del	DEL	GCAGCA	TCGA-IB-A6UG-01A-32D-A33T-08	16388251	66765159	88505401	219	33581											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	438						9	438	---	---	---	---	-	151303908	AGG	-	151303906	7	5	89	1	0	1	0	1	0	0	0	0	9203	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-IB-A6UG-01A-32D-A33T-08	84538747	151303906	3966654	220	33582											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|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																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	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	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	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					ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		7	121						7	121	---	---	---	---	-	152087572	GAG	-	152087570	7	5	89	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-IB-A6UG-01A-32D-A33T-08	783664	152087570	3182990	221	33583											
PTCHD2	57540	broad.mit.edu	37	chr1	11561859	11561859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtgccaacactcagacgcaCgcgcactggcgcatcgagct	11	15	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:11561859C>T	ENST00000294484.6	+	2	948	c.810C>T	c.(808-810)caC>caT	p.H270H	PTCHD2_ENST00000389575.3_Silent_p.H270H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	270					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)		CTCAGACGCACGCGCACTGGC	0.677																																						ENST00000294484.6																			0				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						c.(808-810)caC>caT		patched domain containing 2							14	16	15					1																	11561859		2024	4164	6188	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561859C>T	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.810C>T	1.37:g.11561859C>T						PTCHD2_ENST00000389575.3_Silent_p.H270H	p.H270H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		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)	2	948	+	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)	270					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.810C>T	CCDS41247.1																																																																																				0.677	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		48	24	0	0	0	2.47226e-05	0	48	24					T	11561859	C	T	11561859	2	4	90	1	0	0	0	0	0	0	0	1	12780	535	19	1		1	PTCHD2	1	11561859	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		11561859	237688762	1	33584											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	296						7	296	---	---	---	---	-	46184898	AC	-	46184897	7	5	90	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-A7LX-01A-12D-A36O-08	34623038	46184897	203065724	2	33585											
NRD1	4898	broad.mit.edu	37	chr1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-													tgtatttagtatcttaccccAaaaaaattttcccataggat							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					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						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53	55	54					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	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.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		8	727						8	727	---	---	---	---	-	52290962	A	-	52290962	7	5	90	1	0	1	0	1	0	0	0	0	10687	130	5	0	2526	0	NRD1	1	52290962	Frame_Shift_Del	DEL	A	TCGA-IB-A7LX-01A-12D-A36O-08	6106065	52290962	196959659	3	33586											
SPAG17	200162	broad.mit.edu	37	chr1	118609502	118609502	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatcaacacacctatattgCttatgggcttcttgaaggac	8	9	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:118609502C>T	ENST00000336338.5	-	18	2471	c.2406G>A	c.(2404-2406)aaG>aaA	p.K802K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	802						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)		ACCTATATTGCTTATGGGCTT	0.358																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2404-2406)aaG>aaA		sperm associated antigen 17							101	97	98					1																	118609502		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118609502C>T		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.2406G>A	1.37:g.118609502C>T							p.K802K	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	18	2471	-	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)	802					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.2406G>A	CCDS899.1																																																																																				0.358	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		159	130	0	0	0	2.47226e-05	0	159	130					T	118609502	C	T	118609502	2	4	90	1	0	0	0	0	0	0	0	1	15031	796	28	2		2	SPAG17	1	118609502	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	66318540	118609502	130641119	4	33587											
FLG2	388698	broad.mit.edu	37	chr1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cccatgttgtccaaagccagAggactgacctgagcctgatc	10	13	0	4			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	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)			CCAAAGCCAGAGGACTGACCT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2227-2229)Tct>Gct		filaggrin family member 2							292	285	288					1																	152328035		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328035A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2227T>G	1.37:g.152328035A>C	ENSP00000373370:p.Ser743Ala					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S743A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2299	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		743			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2227T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.348	1.064785	0.20067	.	.	ENSG00000143520	ENST00000388718	T	0.22134	1.97	4.64	4.64	0.57946	.	.	.	.	.	T	0.20251	0.0487	M	0.69185	2.1	0.26074	N	0.981184	D	0.61080	0.989	P	0.57679	0.825	T	0.08932	-1.0698	9	0.14252	T	0.57	-0.8615	12.053	0.53518	1.0:0.0:0.0:0.0	.	743	Q5D862	FILA2_HUMAN	A	743	ENSP00000373370:S743A	ENSP00000373370:S743A	S	-	1	0	FLG2	150594659	0.002000	0.14202	0.081000	0.20488	0.509000	0.34042	1.013000	0.29937	1.959000	0.56917	0.496000	0.49642	TCT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	1758	0	0	0	1.23904e-05	0	11	1758					C	152328035	A	C	152328035	3	2	90	1	0	0	0	0	1	0	0	0	5948	304	11	4	4952	4	FLG2	1	152328035	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	33718533	152328035	96922586	5	33588											
NPR1	4881	broad.mit.edu	37	chr1	153659175	153659175	+	Frame_Shift_Del	DEL	C	C	-													tttgtgggagcctgcaccgaCccccccaatatctgcatcct							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:153659175delC	ENST00000368680.3	+	11	2284	c.1812delC	c.(1810-1812)gacfs	p.D604fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.N607fs*21(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCTGCACCGACCCCCCCAATA	0.592																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			1	Insertion - Frameshift(1)	p.N607fs*21(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1810-1812)gafs		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						97	87	90					1																	153659175		2203	4300	6503	SO:0001589	frameshift_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659175delC	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.1812delC	1.37:g.153659175delC	ENSP00000357669:p.Asp604fs						p.D604fs	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	2284	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		604			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Frame_Shift_Del	DEL	ENST00000368680.3	37	c.1812delC	CCDS1051.1																																																																																				0.592	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		8	577						8	577	---	---	---	---	-	153659175	C	-	153659175	7	5	90	1	0	1	0	1	0	0	0	0	10636	506	18	0	1854	0	NPR1	1	153659175	Frame_Shift_Del	DEL	C	TCGA-IB-A7LX-01A-12D-A36O-08	1331140	153659175	95591446	6	33589											
THBS3	7059	broad.mit.edu	37	chr1	155170966	155170966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtcagtcccacacacGttcccattcccagcccagcc	6	19	2	0	rs150820199	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:155170966G>A	ENST00000368378.3	-	12	1379	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Silent_p.N333N|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_De_novo_Start_OutOfFrame|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541576.1_Intron|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	453	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.N453N(1)		breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCACACACGTTCCCATTCC	0.567																																						ENST00000541990.1																			1	Substitution - coding silent(1)	p.N453N(1)	endometrium(1)	breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48								thrombospondin 3		G		1,4405	2.1+/-5.4	0,1,2202	204	165	178		1359	0.4	1	1	dbSNP_134	178	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	THBS3	NM_007112.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		453/957	155170966	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170966G>A	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1359C>T	1.37:g.155170966G>A						THBS3_ENST00000457183.2_Silent_p.N333N|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000428962.2_Silent_p.N303N|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000541576.1_Intron|THBS3_ENST00000368378.3_Silent_p.N453N				P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		0	1365	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)							B1AVR8|B4DQ20|Q8WV34	Translation_Start_Site	SNP	ENST00000368378.3	37		CCDS1099.1																																																																																				0.567	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112		8	480	0	0	0	1.12685e-05	0	8	480					A	155170966	G	A	155170966	2	1	90	1	0	0	0	0	0	0	0	1	15907	1136	40	1		1	THBS3	1	155170966	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	1511791	155170966	94079655	7	33590											
CACNA1E	777	broad.mit.edu	37	chr1	181707541	181707541	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgtgttcacgggcgtgttCacctttgagatggttataaa	11	6	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:181707541C>A	ENST00000367573.2	+	24	3591	c.3591C>A	c.(3589-3591)ttC>ttA	p.F1197L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F1178L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1197					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						CGGGCGTGTTCACCTTTGAGA	0.468																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3532-3534)ttC>ttA		calcium channel, voltage-dependent, R type, alpha 1E subunit							262	271	268					1																	181707541		1920	4133	6053	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181707541C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3591C>A	1.37:g.181707541C>A	ENSP00000356545:p.Phe1197Leu					CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1178L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1148L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1197L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F804L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1129L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1197L	p.F1178L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			23	3699	+			1197					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3534C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615265	0.66672	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.49	4.57	0.56435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.99535	4.615	0.80722	D	1	P;P;D	0.61697	0.751;0.576;0.99	P;P;D	0.72982	0.613;0.542;0.979	D	0.97750	1.0214	10	0.87932	D	0	.	10.6869	0.45848	0.0:0.842:0.0:0.158	.	1178;1197;1197	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1197;1178;1148;1129;804;1178;1197	ENSP00000356542:F1197L;ENSP00000434814:F1178L;ENSP00000350183:F1148L;ENSP00000351101:F1129L;ENSP00000356539:F804L;ENSP00000353222:F1178L;ENSP00000356545:F1197L	ENSP00000350183:F1148L	F	+	3	2	CACNA1E	179974164	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.823000	0.62694	1.420000	0.47138	0.655000	0.94253	TTC		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		14	922	1	0	3.52763e-06	3.52763e-06	0.00163421	14	922					A	181707541	C	A	181707541	3	1	90	1	0	0	0	0	1	0	0	0	2549	825	29	3	3685	3	CACNA1E	1	181707541	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	26536575	181707541	67543080	8	33591											
KDM5B	10765	broad.mit.edu	37	chr1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccatcactggcatgttgttCaaattccagccactatcaag	6	12	3	0	rs76768289		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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						GCATGTTGTTCAAATTCCAGC	0.378																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1381-1383)ttG>ttT		lysine (K)-specific demethylase 5B							95	101	99					1																	202724554		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724554C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1383G>T	1.37:g.202724554C>A	ENSP00000356234:p.Leu461Phe					KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F	p.L461F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			11	2547	-			461			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1383G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700822	0.68501	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	4.82	0.62117	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	D	0.88022	0.2769	10	0.87932	D	0	-12.7178	9.1277	0.36826	0.0:0.7688:0.0:0.2312	.	497;461	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	461;303;497;303	ENSP00000356234:L461F;ENSP00000356233:L497F;ENSP00000235790:L303F	ENSP00000235790:L303F	L	-	3	2	KDM5B	200991177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.022000	0.41030	1.425000	0.47237	0.655000	0.94253	TTG		0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		17	480	1	0	4.7796e-09	9.90768e-06	2.37378e-06	17	480					A	202724554	C	A	202724554	3	1	90	1	0	0	0	0	1	0	0	0	8164	825	29	3	3319	3	KDM5B	1	202724554	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	21017013	202724554	46526067	9	33592											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q	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	954	Gln-rich.				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	793						7	793	---	---	---	---	-	212115193	TGC	-	212115191	7	5	90	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-IB-A7LX-01A-12D-A36O-08	9390637	212115191	37135430	10	33593											
RYR2	6262	broad.mit.edu	37	chr1	237995882	237995882	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagatgtatcaagaaAggtgttgggaatttttccca	11	5	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:237995882A>T	ENST00000366574.2	+	105	15156	c.14839A>T	c.(14839-14841)Agg>Tgg	p.R4947W	RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4947					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)			GTATCAAGAAAGGTGTTGGGA	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14839-14841)Agg>Tgg		ryanodine receptor 2 (cardiac)							93	89	90					1																	237995882		1860	4127	5987	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237995882A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14839A>T	1.37:g.237995882A>T	ENSP00000355533:p.Arg4947Trp					RYR2_ENST00000542537.1_Missense_Mutation_p.R4931W|RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R4953W	p.R4947W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		105	15156	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4947					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14839A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333129	0.60853	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97232	-4.3;-4.26;-4.29	5.16	4.0	0.46444	.	0.000000	0.56097	D	0.000025	D	0.98460	0.9487	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98802	1.0740	10	0.87932	D	0	-17.2433	11.8212	0.52238	0.7051:0.2949:0.0:0.0	.	4947	Q92736	RYR2_HUMAN	W	4947;4953;4931	ENSP00000355533:R4947W;ENSP00000353174:R4953W;ENSP00000443798:R4931W	ENSP00000353174:R4953W	R	+	1	2	RYR2	236062505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.605000	0.46283	0.932000	0.37266	0.533000	0.62120	AGG		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	155	0	0	0	1.12685e-05	0	8	155					T	237995882	A	T	237995882	3	4	90	1	0	0	0	0	1	0	0	0	13819	63	3	5	15257	5	RYR2	1	237995882	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	25880691	237995882	11254739	11	33594											
GREM2	64388	broad.mit.edu	37	chr1	240656454	240656454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccttcttcacgtgccGcgggatgtagaaggagttgc	12	12	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:240656454G>A	ENST00000318160.4	-	2	588	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	108	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)			TTCACGTGCCGCGGGATGTAG	0.672																																						ENST00000318160.4																			0				endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10						c.(322-324)Cgg>Tgg		gremlin 2, DAN family BMP antagonist							57	59	58					1																	240656454		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656454G>A	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.322C>T	1.37:g.240656454G>A	ENSP00000318650:p.Arg108Trp						p.R108W	NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	588	-		all_cancers(173;0.0196)	108			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.322C>T	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861866	0.91433	.	.	ENSG00000180875	ENST00000318160	T	0.33216	1.42	4.97	4.97	0.65823	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	M	0.82323	2.585	0.80722	D	1	D	0.54772	0.968	P	0.54346	0.749	T	0.57312	-0.7833	10	0.54805	T	0.06	-17.7704	14.0116	0.64500	0.0:0.0:0.8481:0.1519	.	108	Q9H772	GREM2_HUMAN	W	108	ENSP00000318650:R108W	ENSP00000318650:R108W	R	-	1	2	GREM2	238723077	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.487000	0.45268	2.290000	0.77057	0.557000	0.71058	CGG		0.672	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		8	269	0	0	0	5.18039e-06	0	8	269					A	240656454	G	A	240656454	3	1	90	1	0	0	0	0	1	0	0	0	6792	1086	38	1	188	1	GREM2	1	240656454	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	2660572	240656454	8594167	12	33595											
SDCCAG8	10806	broad.mit.edu	37	chr1	243507631	243507631	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggatcttgaaattaaagatCaggtaagagaggacacagca	12	5	2	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:243507631C>A	ENST00000366541.3	+	12	1589	c.1471C>A	c.(1471-1473)Cag>Aag	p.Q491K	MIR4677_ENST00000584153.1_RNA|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	491	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)		AATTAAAGATCAGGTAAGAGA	0.353																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1471-1473)Cag>Aag		serologically defined colon cancer antigen 8							90	86	87					1																	243507631		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243507631C>A	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.1471C>A	1.37:g.243507631C>A	ENSP00000355499:p.Gln491Lys					SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q448K|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q346K	p.Q491K	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	12	1589	+	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)	491			Sufficient for homodimerization (By similarity).		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.1471C>A	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072404	0.55646	.	.	ENSG00000054282	ENST00000355875;ENST00000366541;ENST00000343783;ENST00000435549	T;T;T;T	0.57273	0.7;0.66;0.66;0.41	6.07	5.16	0.70880	.	0.129373	0.52532	D	0.000063	T	0.39886	0.1095	L	0.29908	0.895	0.47245	D	0.999362	B;B	0.25441	0.075;0.126	B;B	0.28638	0.092;0.092	T	0.19614	-1.0300	10	0.15499	T	0.54	-7.4048	12.343	0.55105	0.1339:0.7375:0.1286:0.0	.	448;491	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	K	448;491;346;271	ENSP00000348137:Q448K;ENSP00000355499:Q491K;ENSP00000341260:Q346K;ENSP00000410200:Q271K	ENSP00000341260:Q346K	Q	+	1	0	SDCCAG8	241574254	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.247000	0.32815	1.566000	0.49654	0.585000	0.79938	CAG		0.353	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		32	199	1	0	9.17885e-22	1.17478e-05	4.72908e-19	32	199					A	243507631	C	A	243507631	3	1	90	1	0	0	0	0	1	0	0	0	14009	827	29	3	1517	3	SDCCAG8	1	243507631	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	2851177	243507631	5742990	13	33596											
OR2W5	441932	broad.mit.edu	37	chr1	247655339	247655339	+	RNA	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggggaccatgaagaaActtctggggtgggagaaagg	18	4	1	4			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:247655339A>T	ENST00000522351.1	+	0	970							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)			CCATGAAGAAACTTCTGGGGT	0.507																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															67	68	68					1																	247655339		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655339A>T			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.247655339A>T										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	970	+	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)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.507	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		123	244	0	0	0	2.47226e-05	0	123	244					T	247655339	A	T	247655339	1	4	90	0	1	0	0	0	0	0	0	0	11076	43	2	5		5	OR2W5	1	247655339	RNA	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	4147708	247655339	1595282	14	33597											
PGBD2	267002	broad.mit.edu	37	chr1	249211293	249211293	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tatgcttggcagaaaaatgtCaatttgagtcttacggctca	9	7	3	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr1:249211293C>A	ENST00000329291.5	+	3	657	c.510C>A	c.(508-510)gtC>gtA	p.V170V	PGBD2_ENST00000539153.1_Silent_p.V167V|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	170										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)			AGAAAAATGTCAATTTGAGTC	0.383																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(499-501)gtC>gtA		piggyBac transposable element derived 2							131	135	134					1																	249211293		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:249211293C>A	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.510C>A	1.37:g.249211293C>A						PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Silent_p.V170V	p.V167V			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	756	+	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)	170					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.501C>A	CCDS31128.1																																																																																				0.383	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			22	658	1	0	9.90768e-06	9.90768e-06	0.00436953	22	658					A	249211293	C	A	249211293	2	1	90	1	0	0	0	0	0	0	0	1	11823	813	29	3		3	PGBD2	1	249211293	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	1555954	249211293	39328	15	33598											
RTKN	84058	broad.mit.edu	37	chr2	74654657	74654657	+	IGR	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcatccccatactggttactGatgcttagggtgaagggccg	12	10	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:74654657G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Silent_p.I333I|RTKN_ENST00000272430.5_Silent_p.I383I|RTKN_ENST00000305557.5_Silent_p.I370I	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACTGGTTACTGATGCTTAGGG	0.557																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1108-1110)atC>atT		rhotekin							195	205	202					2																	74654657		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74654657G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74654657G>A						RTKN_ENST00000272430.5_Silent_p.I383I|RTKN_ENST00000233330.6_Silent_p.I333I	p.I370I	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			11	1695	-			383			PH.		D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.1110C>T	CCDS1940.1																																																																																				0.557	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		160	590	0	0	0	2.47226e-05	0	160	590					A	74654657	G	A	74654657	1	1	90	0	1	0	0	0	0	0	0	0	13772	1280	45	2		2	RTKN	2	74654657	IGR	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		74654657	168544716	16	33599											
DNAH6	1768	broad.mit.edu	37	chr2	84784998	84784998	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacctgtggaactgggcCaagtttagcagcagtatttg	11	7	0	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:84784998C>T	ENST00000237449.6	+	10	1750	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	DNAH6_ENST00000389394.3_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	581	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						GGAACTGGGCCAAGTTTAGCA	0.343																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1741-1743)cCa>cTa		dynein, axonemal, heavy chain 6							91	90	90					2																	84784998		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84784998C>T	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.1742C>T	2.37:g.84784998C>T	ENSP00000237449:p.Pro581Leu					DNAH6_ENST00000237449.6_Missense_Mutation_p.P581L|DNAH6_ENST00000398278.2_Missense_Mutation_p.P581L	p.P581L	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			11	1879	+			581			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1742C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109272	0.56398	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.26067	1.76;1.86;1.76	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000083	T	0.51483	0.1677	M	0.70275	2.135	0.54753	D	0.999982	B;D	0.89917	0.344;1.0	B;D	0.79784	0.078;0.993	T	0.54227	-0.8325	10	0.62326	D	0.03	.	17.2596	0.87066	0.0:1.0:0.0:0.0	.	581;160	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	L	581	ENSP00000374045:P581L;ENSP00000381326:P581L;ENSP00000237449:P581L	ENSP00000237449:P581L	P	+	2	0	DNAH6	84638509	0.998000	0.40836	0.736000	0.30914	0.477000	0.33069	4.964000	0.63701	2.363000	0.80096	0.561000	0.74099	CCA		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		178	257	0	0	0	2.47226e-05	0	178	257					T	84784998	C	T	84784998	3	4	90	1	0	0	0	0	1	0	0	0	4621	594	21	2	1780	2	DNAH6	2	84784998	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	10130341	84784998	158414375	17	33600											
TGOLN2	10618	broad.mit.edu	37	chr2	85554351	85554351	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctgcgcctccgaaccTgacttgctagggctgtcttt	12	12	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:85554351T>C	ENST00000282120.2	-	3	500		c.e3-2		TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S|TGOLN2_ENST00000409015.1_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000398263.2_Silent_p.S168S			O43493	TGON2_HUMAN	trans-golgi network protein 2							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CCTCCGAACCTGACTTGCTAG	0.602																																						ENST00000282120.2																			0											c.e3-2		trans-golgi network protein 2							311	314	313					2																	85554351		1956	4148	6104	SO:0001630	splice_region_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554351T>C	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000282120.2:c.212-2A>G	2.37:g.85554351T>C						TGOLN2_ENST00000398263.2_Silent_p.S168S|TGOLN2_ENST00000377386.3_Silent_p.S168S|TGOLN2_ENST00000444342.2_Silent_p.S168S|TGOLN2_ENST00000409232.3_Silent_p.S168S|TGOLN2_ENST00000409015.1_Silent_p.S168S				O43493	TGON2_HUMAN			3	500	-								B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Splice_Site	SNP	ENST00000282120.2	37			.	.	.	.	.	.	.	.	.	.	T	0.755	-0.771466	0.02951	.	.	ENSG00000152291	ENST00000282120	.	.	.	2.95	-5.91	0.02269	.	.	.	.	.	.	.	.	.	.	.	0.21256	N	0.999746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0355	0.30491	0.1707:0.1246:0.0:0.7047	.	.	.	.	.	-1	.	.	.	-	.	.	TGOLN2	85407862	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.395000	0.01053	-2.566000	0.00470	-1.559000	0.00887	.		0.602	TGOLN2-201	KNOWN	basic	protein_coding	protein_coding		NM_006464	Intron	8	1963	0	0	0	1.49906e-05	0	8	1963					C	85554351	T	C	85554351	5	2	90	1	0	0	0	0	0	0	1	0	15888	1567	55	4	821	4	TGOLN2	2	85554351	Splice_Site	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	769353	85554351	157645022	18	33601											
RPIA	22934	broad.mit.edu	37	chr2	89035229	89035229	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtggctggctatgctagtCgcttcatcgtgatcgctgat	12	9	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:89035229C>A	ENST00000283646.4	+	6	626	c.571C>A	c.(571-573)Cgc>Agc	p.R191S		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	191					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)				CTATGCTAGTCGCTTCATCGT	0.493																																						ENST00000283646.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						c.(571-573)Cgc>Agc		ribose 5-phosphate isomerase A							194	189	191					2																	89035229		1978	4159	6137	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89035229C>A	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.571C>A	2.37:g.89035229C>A	ENSP00000283646:p.Arg191Ser						p.R191S	NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN			6	626	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	191					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.571C>A	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793754	0.31685	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77620	-1.11	5.79	3.98	0.46160	.	0.576251	0.20930	N	0.083101	T	0.67702	0.2921	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.17433	0.018	T	0.58781	-0.7576	10	0.49607	T	0.09	-1.4737	5.0953	0.14729	0.1406:0.5898:0.0:0.2696	.	191	P49247	RPIA_HUMAN	S	191;57	ENSP00000283646:R191S	ENSP00000283646:R191S	R	+	1	0	RPIA	88816344	0.021000	0.18746	0.972000	0.41901	0.690000	0.40134	0.204000	0.17335	1.449000	0.47699	0.655000	0.94253	CGC		0.493	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2			14	958	1	0	1.3612e-06	2.31682e-05	0.0006469	14	958					A	89035229	C	A	89035229	3	1	90	1	0	0	0	0	1	0	0	0	13603	884	31	3	593	3	RPIA	2	89035229	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	3480878	89035229	154164144	19	33602											
CHST10	9486	broad.mit.edu	37	chr2	101010109	101010109	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtccggttcctcctgtatttTctgatgatgccaggagcaat	10	10	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:101010109T>C	ENST00000264249.3	-	7	1054	c.669A>G	c.(667-669)agA>agG	p.R223R	CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	223					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						TCCTGTATTTTCTGATGATGC	0.483																																						ENST00000264249.3																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						c.(667-669)agA>agG		carbohydrate sulfotransferase 10							145	146	146					2																	101010109		2203	4300	6503	SO:0001819	synonymous_variant	9486				carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		g.chr2:101010109T>C	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.669A>G	2.37:g.101010109T>C						CHST10_ENST00000409701.1_Silent_p.R223R|CHST10_ENST00000542617.1_Silent_p.R271R	p.R223R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN			7	1054	-			223					Q53T18	Silent	SNP	ENST00000264249.3	37	c.669A>G	CCDS2047.1																																																																																				0.483	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854		68	463	0	0	0	2.47226e-05	0	68	463					C	101010109	T	C	101010109	2	2	90	1	0	0	0	0	0	0	0	1	3407	1780	62	4		4	CHST10	2	101010109	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	11974880	101010109	142189264	20	33603											
SCN3A	6328	broad.mit.edu	37	chr2	165947203	165947203	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctatgagaagaggaggatcCagggcagctgcaaaatcaga	14	7	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:165947203C>A	ENST00000360093.3	-	28	5951	c.5460G>T	c.(5458-5460)ctG>ctT	p.L1820L	SCN3A_ENST00000409101.3_Silent_p.L1771L|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Silent_p.L303L|SCN3A_ENST00000283254.7_Silent_p.L1820L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1820					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)	GAGGAGGATCCAGGGCAGCTG	0.448																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(5458-5460)ctG>ctT		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						92	99	96					2																	165947203		2203	4298	6501	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947203C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5460G>T	2.37:g.165947203C>A						SCN3A_ENST00000540861.1_Silent_p.L303L|SCN3A_ENST00000283254.7_Silent_p.L1820L|SCN3A_ENST00000409101.3_Silent_p.L1771L|AC013463.2_ENST00000431341.1_RNA	p.L1820L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5951	-			1820					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.5460G>T																																																																																					0.448	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		8	468	1	0	1.12685e-05	1.12685e-05	0.00493024	8	468					A	165947203	C	A	165947203	2	1	90	1	0	0	0	0	0	0	0	1	13968	581	21	3		3	SCN3A	2	165947203	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	64937094	165947203	77252170	21	33604											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	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						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	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.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		7	308						7	308	---	---	---	---	T	175213713	-	T	175213712	7	5	90	1	0	1	1	0	0	0	0	0	3441	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-IB-A7LX-01A-12D-A36O-08	9266509	175213712	67985661	22	33605											
SF3B1	23451	broad.mit.edu	37	chr2	198265629	198265629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taatttctgctgcacctactTtgtttgccaactccacagta	5	12	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198265629T>C	ENST00000335508.6	-	18	2619	c.2528A>G	c.(2527-2529)aAa>aGa	p.K843R	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	843					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)			TGCACCTACTTTGTTTGCCAA	0.348			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2527-2529)aAa>aGa		splicing factor 3b, subunit 1, 155kDa							84	83	84					2																	198265629		2203	4299	6502	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198265629T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2528A>G	2.37:g.198265629T>C	ENSP00000335321:p.Lys843Arg						p.K843R	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		18	2619	-			843					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2528A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581538	0.65992	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.77	5.77	0.91146	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.76433	2.335	0.80722	D	1	B	0.28082	0.2	B	0.36030	0.216	T	0.68447	-0.5406	10	0.52906	T	0.07	.	16.3948	0.83586	0.0:0.0:0.0:1.0	.	843	O75533	SF3B1_HUMAN	R	843	ENSP00000335321:K843R	ENSP00000335321:K843R	K	-	2	0	SF3B1	197973874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.936000	0.87665	2.326000	0.78906	0.533000	0.62120	AAA		0.348	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			65	240	0	0	0	2.47226e-05	0	65	240					C	198265629	T	C	198265629	3	2	90	1	0	0	0	0	1	0	0	0	14199	1841	64	4	1418	4	SF3B1	2	198265629	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	23051917	198265629	44933744	23	33606											
SF3B1	23451	broad.mit.edu	37	chr2	198266713	198266713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taattggtggatttacctttCctctgtgttggcggataccc	10	9	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr2:198266713C>T	ENST00000335508.6	-	15	2310	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	740					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)	p.G740E(1)		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)			ATTTACCTTTCCTCTGTGTTG	0.343			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		1	Substitution - Missense(1)	p.G740E(1)	haematopoietic_and_lymphoid_tissue(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2218-2220)gGa>gAa		splicing factor 3b, subunit 1, 155kDa							87	83	85					2																	198266713		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266713C>T	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.2219G>A	2.37:g.198266713C>T	ENSP00000335321:p.Gly740Glu						p.G740E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2310	-			740					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2219G>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036521	0.93630	.	.	ENSG00000115524	ENST00000335508	T	0.62364	0.03	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.107844	0.64402	D	0.000005	T	0.76449	0.3989	M	0.83692	2.655	0.80722	D	1	D	0.55800	0.973	P	0.51974	0.686	T	0.80183	-0.1488	10	0.66056	D	0.02	.	19.5659	0.95393	0.0:1.0:0.0:0.0	.	740	O75533	SF3B1_HUMAN	E	740	ENSP00000335321:G740E	ENSP00000335321:G740E	G	-	2	0	SF3B1	197974958	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.359000	0.79477	2.619000	0.88677	0.563000	0.77884	GGA		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			76	225	0	0	0	2.47226e-05	0	76	225					T	198266713	C	T	198266713	3	4	90	1	0	0	0	0	1	0	0	0	14199	855	30	2	1739	2	SF3B1	2	198266713	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	1084	198266713	44932660	24	33607											
JAGN1	84522	broad.mit.edu	37	chr3	9934901	9934901	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcacagcagctctaccGccatggcaaggcctaccgtt	10	15	1	0	rs542419840		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:9934901G>A	ENST00000307768.4	+	2	561	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					CAGCTCTACCGCCATGGCAAG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		22334	0.0		0.0	False		,,,				2504	0.001					ENST00000307768.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10						c.(391-393)cGc>cAc		jagunal homolog 1 (Drosophila)							239	150	180					3																	9934901		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934901G>A	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.392G>A	3.37:g.9934901G>A	ENSP00000306106:p.Arg131His						p.R131H	NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN			2	561	+	Medulloblastoma(99;0.227)		131						Missense_Mutation	SNP	ENST00000307768.4	37	c.392G>A	CCDS2588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.014448|4.014448	0.75161|0.75161	.|.	.|.	ENSG00000171135|ENSG00000171135	ENST00000543379|ENST00000307768	.|.	.|.	.|.	5.73|5.73	3.76|3.76	0.43208|0.43208	.|.	.|0.054409	.|0.64402	.|D	.|0.000001	T|T	0.74099|0.74099	0.3672|0.3672	M|M	0.84082|0.84082	2.675|2.675	0.53005|0.53005	D|D	0.999963|0.999963	.|D	.|0.63880	.|0.993	.|P	.|0.55713	.|0.782	T|T	0.78671|0.78671	-0.2113|-0.2113	6|9	0.13853|0.66056	T|D	0.58|0.02	-22.0269|-22.0269	11.9619|11.9619	0.53013|0.53013	0.071:0.0:0.7989:0.13|0.071:0.0:0.7989:0.13	.|.	.|131	.|Q8N5M9	.|JAGN1_HUMAN	T|H	130|131	.|.	ENSP00000442889:A130T|ENSP00000306106:R131H	A|R	+|+	1|2	0|0	JAGN1|JAGN1	9909901|9909901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.496000|7.496000	0.81526|0.81526	1.434000|1.434000	0.47414|0.47414	-0.339000|-0.339000	0.08088|0.08088	GCC|CGC		0.527	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		16	385	0	0	0	3.52763e-06	0	16	385					A	9934901	G	A	9934901	3	1	90	1	0	0	0	0	1	0	0	0	7966	1087	38	1	398	1	JAGN1	3	9934901	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		9934901	188087529	25	33608											
LIMD1	8994	broad.mit.edu	37	chr3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-													agatggccaaaatccacctcCagcagcagcagcagcagctc							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				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)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	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.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		7	140						7	140	---	---	---	---	-	45636545	CAG	-	45636543	7	5	90	1	0	1	0	1	0	0	0	0	8830	595	21	0	174	0	LIMD1	3	45636543	In_Frame_Del	DEL	CAG	TCGA-IB-A7LX-01A-12D-A36O-08	35701642	45636543	152385887	26	33609											
DOCK3	1795	broad.mit.edu	37	chr3	51312611	51312611	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagggattcttggcagcatcTtctccatcgtcaagaccagc	9	13	4	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:51312611T>G	ENST00000266037.9	+	25	2673	c.2650T>G	c.(2650-2652)Ttc>Gtc	p.F884V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	884					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)		TGGCAGCATCTTCTCCATCGT	0.537																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2650-2652)Ttc>Gtc		dedicator of cytokinesis 3							151	152	151					3																	51312611		1983	4158	6141	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51312611T>G	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.2650T>G	3.37:g.51312611T>G	ENSP00000266037:p.Phe884Val						p.F884V	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	25	2673	+			884					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.2650T>G	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.797966	0.90538	.	.	ENSG00000088538	ENST00000266037	T	0.65364	-0.15	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.66939	2.045	0.80722	D	1	P	0.51933	0.949	P	0.48952	0.596	T	0.69423	-0.5149	10	0.39692	T	0.17	.	15.8727	0.79132	0.0:0.0:0.0:1.0	.	884	Q8IZD9	DOCK3_HUMAN	V	884	ENSP00000266037:F884V	ENSP00000266037:F884V	F	+	1	0	DOCK3	51287651	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.036000	0.88901	2.139000	0.66308	0.528000	0.53228	TTC		0.537	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		10	469	0	0	0	3.07112e-06	0	10	469					G	51312611	T	G	51312611	3	3	90	1	0	0	0	0	1	0	0	0	4704	1609	56	4	2748	4	DOCK3	3	51312611	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	5676068	51312611	146709819	27	33610											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	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		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		9	385						9	385	---	---	---	---	-	53529195	GAT	-	53529193	7	5	90	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-IB-A7LX-01A-12D-A36O-08	2216582	53529193	144493237	28	33611											
CPNE4	131034	broad.mit.edu	37	chr3	131283152	131283152	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atgtagtgcaaggaacagctGttcctggggtccccgtttga	13	9	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:131283152G>C	ENST00000512055.1	-	15	3095	c.969C>G	c.(967-969)aaC>aaG	p.N323K	CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K			Q96A23	CPNE4_HUMAN	copine IV	323	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGAACAGCTGTTCCTGGGGT	0.433																																						ENST00000512055.1																			0				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						c.(967-969)aaC>aaG		copine IV							114	109	111					3																	131283152		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131283152G>C	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.969C>G	3.37:g.131283152G>C	ENSP00000421705:p.Asn323Lys					CPNE4_ENST00000511604.1_Missense_Mutation_p.N323K|CPNE4_ENST00000429747.1_Missense_Mutation_p.N323K|CPNE4_ENST00000502818.1_Missense_Mutation_p.N341K|CPNE4_ENST00000512332.1_Missense_Mutation_p.N341K	p.N323K			Q96A23	CPNE4_HUMAN			15	3095	-			323			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.969C>G	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243726	0.58995	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.54071	0.6;0.6;0.59;0.6;0.59	5.52	4.65	0.58169	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	L	0.58510	1.815	0.80722	D	1	D;P	0.76494	0.999;0.81	D;B	0.74023	0.982;0.313	T	0.65994	-0.6033	10	0.35671	T	0.21	-36.7038	14.6356	0.68686	0.07:0.0:0.93:0.0	.	341;323	Q96A23-2;Q96A23	.;CPNE4_HUMAN	K	323;323;341;323;341	ENSP00000421705:N323K;ENSP00000411904:N323K;ENSP00000424853:N341K;ENSP00000423811:N323K;ENSP00000421646:N341K	ENSP00000411904:N323K	N	-	3	2	CPNE4	132765842	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.441000	0.66569	1.350000	0.45770	-0.221000	0.12465	AAC		0.433	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		65	286	0	0	0	2.47226e-05	0	65	286					C	131283152	G	C	131283152	3	2	90	1	0	0	0	0	1	0	0	0	3823	1368	48	5	728	5	CPNE4	3	131283152	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	77753959	131283152	66739278	29	33612											
FAM194A	131831	broad.mit.edu	37	chr3	150391782	150391782	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatgaagtcagaaacTtgctcccatgtttgtagtgc	10	8	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:150391782T>G	ENST00000295910.6	-	11	1356	c.1304A>C	c.(1303-1305)aAg>aCg	p.K435T	FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	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						AGTCAGAAACTTGCTCCCATG	0.333																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1303-1305)aAg>aCg		family with sequence similarity 194, member A							155	150	151					3																	150391782		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150391782T>G																												ENST00000295910.6:c.1304A>C	3.37:g.150391782T>G	ENSP00000295910:p.Lys435Thr					FAM194A_ENST00000491361.1_Missense_Mutation_p.K289T	p.K435T	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			11	1356	-			435						Missense_Mutation	SNP	ENST00000295910.6	37	c.1304A>C	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306745	0.60305	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12984	2.63;2.63	4.94	4.94	0.65067	.	0.220254	0.31461	N	0.007604	T	0.25457	0.0619	L	0.45228	1.405	0.30174	N	0.801058	D	0.76494	0.999	D	0.79784	0.993	T	0.05131	-1.0904	10	0.46703	T	0.11	-12.9558	8.3833	0.32486	0.0:0.0893:0.0:0.9107	.	435	Q7L0X2	F194A_HUMAN	T	435;289;393	ENSP00000295910:K435T;ENSP00000419366:K289T	ENSP00000295910:K435T	K	-	2	0	FAM194A	151874472	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.661000	0.54503	2.053000	0.61076	0.533000	0.62120	AAG		0.333	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			52	369	0	0	0	2.47226e-05	0	52	369					G	150391782	T	G	150391782	3	3	90	1	0	0	0	0	1	0	0	0	5547	1609	56	4	703	4	FAM194A	3	150391782	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	19108630	150391782	47630648	30	33613											
ACTL6A	86	broad.mit.edu	37	chr3	179291168	179291168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atattctagttgaagactggGatagtttccaagctattttg	9	5	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr3:179291168G>A	ENST00000429709.2	+	4	502	c.289G>A	c.(289-291)Gat>Aat	p.D97N	ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N|ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	97					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGAAGACTGGGATAGTTTCCA	0.353																																						ENST00000429709.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21						c.(289-291)Gat>Aat		actin-like 6A							87	86	86					3																	179291168		2203	4300	6503	SO:0001583	missense	86				chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	g.chr3:179291168G>A	AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.289G>A	3.37:g.179291168G>A	ENSP00000397552:p.Asp97Asn					ACTL6A_ENST00000450518.2_Missense_Mutation_p.D55N|ACTL6A_ENST00000392662.1_Missense_Mutation_p.D55N	p.D97N	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)		4	502	+	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		97					B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	c.289G>A	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398826	0.96030	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.95853	-3.83;-3.83;-3.83	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.64260	1.97	0.80722	D	1	D	0.52996	0.957	P	0.53954	0.738	D	0.96821	0.9604	10	0.87932	D	0	.	19.2768	0.94034	0.0:0.0:1.0:0.0	.	97	O96019	ACL6A_HUMAN	N	97;55;55	ENSP00000397552:D97N;ENSP00000394014:D55N;ENSP00000376430:D55N	ENSP00000376430:D55N	D	+	1	0	ACTL6A	180773862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.686000	0.98664	2.625000	0.88918	0.555000	0.69702	GAT		0.353	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301		13	606	0	0	0	9.31168e-06	0	13	606					A	179291168	G	A	179291168	3	1	90	1	0	0	0	0	1	0	0	0	198	1174	41	2	303	2	ACTL6A	3	179291168	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	28899386	179291168	18731262	31	33614											
GPR125	166647	broad.mit.edu	37	chr4	22422588	22422588	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtttccctctggatccCgcctcccataatccgaaagt	7	16	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:22422588C>A	ENST00000334304.5	-	12	1999	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	577					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R577L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTCTGGATCCCGCCTCCCATA	0.468																																						ENST00000334304.5																			1	Substitution - Missense(1)	p.R577L(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1729-1731)cGg>cTg		G protein-coupled receptor 125							197	202	200					4																	22422588		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22422588C>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1730G>T	4.37:g.22422588C>A	ENSP00000334952:p.Arg577Leu					GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.R351L|GPR125_ENST00000502482.1_Missense_Mutation_p.R577L	p.R577L	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			12	1999	-		Breast(46;0.198)	577					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1730G>T	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341855	0.41498	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T	0.56611	0.61;0.45	5.1	5.1	0.69264	.	0.165023	0.41097	D	0.000942	T	0.58652	0.2137	L	0.29908	0.895	0.44762	D	0.997763	B;B;D;D	0.63880	0.001;0.018;0.992;0.993	B;B;D;D	0.74023	0.006;0.008;0.969;0.982	T	0.49000	-0.8984	10	0.06891	T	0.86	-16.2877	18.8818	0.92358	0.0:1.0:0.0:0.0	.	452;577;351;577	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	L	577;351;577	ENSP00000334952:R577L;ENSP00000421006:R577L	ENSP00000334952:R577L	R	-	2	0	GPR125	22031686	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.527000	0.67123	2.515000	0.84797	0.655000	0.94253	CGG		0.468	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			9	902	1	0	5.50884e-06	5.50884e-06	0.00248927	9	902					A	22422588	C	A	22422588	3	1	90	1	0	0	0	0	1	0	0	0	6668	652	23	3	2267	3	GPR125	4	22422588	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		22422588	168731688	32	33615											
TBC1D1	23216	broad.mit.edu	37	chr4	38134830	38134830	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggataaattagagaaaacCaacagcagcttacgcaaaca	7	8	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:38134830C>T	ENST00000261439.4	+	19	3613	c.3258C>T	c.(3256-3258)acC>acT	p.T1086T	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.T1077T	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	1086					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						TAGAGAAAACCAACAGCAGCT	0.393																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(3256-3258)acC>acT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							111	103	106					4																	38134830		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:38134830C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3258C>T	4.37:g.38134830C>T						TBC1D1_ENST00000508802.1_Silent_p.T1077T|TBC1D1_ENST00000407365.1_3'UTR	p.T1086T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			19	3613	+			1086					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.3258C>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197786	0.22037	.	.	ENSG00000065882	ENST00000510573	.	.	.	4.97	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.4575	6.939	0.24483	0.2837:0.6293:0.0:0.087	.	.	.	.	X	774	.	.	Q	+	1	0	TBC1D1	37811225	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.306000	0.43673	1.445000	0.47624	0.655000	0.94253	CAA		0.393	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		15	220	0	0	0	2.23348e-06	0	15	220					T	38134830	C	T	38134830	2	4	90	1	0	0	0	0	0	0	0	1	15649	581	21	2		2	TBC1D1	4	38134830	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	15712242	38134830	153019446	33	33616											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68725370	68725370	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctacatatggattcagaaatCttgaagtcgaagttacacgt	8	7	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:68725370C>T	ENST00000283916.6	-	2	133	c.35G>A	c.(34-36)aGa>aAa	p.R12K	TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	12					proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCAGAAATCTTGAAGTCGA	0.388																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(34-36)aGa>aAa		transmembrane protease, serine 11D							98	88	91					4																	68725370		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68725370C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"Serine peptidases / Transmembrane"	24059	protein-coding gene	gene with protein product	"airway trypsin like protease"	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.35G>A	4.37:g.68725370C>T	ENSP00000283916:p.Arg12Lys					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_Intron|TMPRSS11D_ENST00000545541.1_Intron	p.R12K	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			2	133	-			12					Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.35G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905995	0.72868	.	.	ENSG00000153802	ENST00000283916	D	0.88046	-2.33	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000010	D	0.89529	0.6741	L	0.61387	1.9	0.80722	D	1	D	0.67145	0.996	P	0.54759	0.76	D	0.88677	0.3199	10	0.41790	T	0.15	.	14.0925	0.65000	0.0:1.0:0.0:0.0	.	12	O60235	TM11D_HUMAN	K	12	ENSP00000283916:R12K	ENSP00000283916:R12K	R	-	2	0	TMPRSS11D	68407965	1.000000	0.71417	0.997000	0.53966	0.591000	0.36615	1.993000	0.40747	2.704000	0.92352	0.563000	0.77884	AGA		0.388	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		66	188	0	0	0	2.47226e-05	0	66	188					T	68725370	C	T	68725370	3	4	90	1	0	0	0	0	1	0	0	0	16293	913	32	2	1257	2	TMPRSS11D	4	68725370	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	30590540	68725370	122428906	34	33617											
AMBN	258	broad.mit.edu	37	chr4	71468524	71468524	+	Missense_Mutation	SNP	A	A	G													ctacaatatagctcccaggaAtggattttcctgatccacaa							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:71468524A>G	ENST00000322937.6	+	8	683	c.580A>G	c.(580-582)Atg>Gtg	p.M194V	AMBN_ENST00000449493.2_Missense_Mutation_p.M179V	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	194					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)			GCTCCCAGGAATGGATTTTCC	0.249																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(580-582)Atg>Gtg		ameloblastin (enamel matrix protein)							25	26	26					4																	71468524		1312	2293	3605	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468524A>G	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.580A>G	4.37:g.71468524A>G	ENSP00000313809:p.Met194Val					AMBN_ENST00000449493.2_Missense_Mutation_p.M179V	p.M194V	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	683	+			194					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.580A>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.561400	0.00903	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.28895	1.59;1.61	2.61	-0.14	0.13456	.	1.675450	0.03761	U	0.258090	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.23018	0.043	T	0.19811	-1.0294	10	0.36615	T	0.2	.	3.0058	0.06028	0.5952:0.2547:0.1501:0.0	.	194	Q9NP70	AMBN_HUMAN	V	194;193;179	ENSP00000313809:M194V;ENSP00000391234:M179V	ENSP00000313809:M194V	M	+	1	0	AMBN	71503113	0.324000	0.24652	0.086000	0.20670	0.016000	0.09150	-0.081000	0.11321	-0.005000	0.14395	-0.902000	0.02854	ATG		0.249	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	212	0	0	0	2.17888e-05	0	6	212					G	71468524	A	G	71468524	3	3	90	1	0	0	0	0	1	0	0	0	563	101	4	4	610	4	AMBN	4	71468524	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	2743154	71468524	119685752	35	33618	216	2									
AMBN	258	broad.mit.edu	37	chr4	71468533	71468533	+	Missense_Mutation	SNP	C	C	G													agctcccaggaatggattttCctgatccacaaggtccatca							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:71468533C>G	ENST00000322937.6	+	8	692	c.589C>G	c.(589-591)Cct>Gct	p.P197A	AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	197					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)			AATGGATTTTCCTGATCCACA	0.259																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(589-591)Cct>Gct		ameloblastin (enamel matrix protein)																																				SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468533C>G	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.589C>G	4.37:g.71468533C>G	ENSP00000313809:p.Pro197Ala					AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	p.P197A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	692	+			197					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.589C>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167250	0.01660	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.31510	1.56;1.49	2.61	-3.06	0.05379	.	1.468300	0.05127	N	0.491847	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	10	0.40728	T	0.16	.	3.1109	0.06357	0.1148:0.4467:0.2775:0.161	.	197	Q9NP70	AMBN_HUMAN	A	197;196;182	ENSP00000313809:P197A;ENSP00000391234:P182A	ENSP00000313809:P197A	P	+	1	0	AMBN	71503122	0.998000	0.40836	0.078000	0.20375	0.037000	0.13140	0.079000	0.14782	-0.882000	0.03987	-2.796000	0.00114	CCT		0.259	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	214	0	0	0	5.50884e-06	0	6	214					G	71468533	C	G	71468533	3	3	90	1	0	0	0	0	1	0	0	0	563	855	30	5	619	5	AMBN	4	71468533	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	9	71468533	119685743	36	33619	216	2									
FAT4	79633	broad.mit.edu	37	chr4	126411862	126411862	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaacgccagcagcatcGccccttcggatgcagacatc	9	15	0	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:126411862G>A	ENST00000394329.3	+	17	13898	c.13885G>A	c.(13885-13887)Gcc>Acc	p.A4629T	FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4629					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						CAGCAGCATCGCCCCTTCGGA	0.512																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13885-13887)Gcc>Acc		FAT atypical cadherin 4							75	73	74					4																	126411862		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411862G>A	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.13885G>A	4.37:g.126411862G>A	ENSP00000377862:p.Ala4629Thr					FAT4_ENST00000335110.5_Missense_Mutation_p.A2870T	p.A4629T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13898	+			4629					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13885G>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493760	0.64186	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.91945	-2.94;-2.39	4.95	4.95	0.65309	.	0.000000	0.34110	U	0.004241	D	0.94807	0.8323	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	D	0.94547	0.7750	10	0.45353	T	0.12	.	17.186	0.86867	0.0:0.0:1.0:0.0	.	2870;4629;4628	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	4629;2870	ENSP00000377862:A4629T;ENSP00000335169:A2870T	ENSP00000335169:A2870T	A	+	1	0	FAT4	126631312	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	9.440000	0.97547	2.275000	0.75901	0.561000	0.74099	GCC		0.512	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	163	0	0	0	5.50884e-06	0	11	163					A	126411862	G	A	126411862	3	1	90	1	0	0	0	0	1	0	0	0	5717	1087	38	1	13951	1	FAT4	4	126411862	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	54943329	126411862	64742414	37	33620											
WDR17	116966	broad.mit.edu	37	chr4	177052725	177052725	+	Frame_Shift_Del	DEL	A	A	-													tttcagtccaatctccaaccAaaaatcattatacatcctca							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr4:177052725delA	ENST00000280190.4	+	8	1162	c.1006delA	c.(1006-1008)aaafs	p.K336fs	WDR17_ENST00000508596.1_Frame_Shift_Del_p.K312fs|WDR17_ENST00000507824.2_Frame_Shift_Del_p.K319fs|WDR17_ENST00000393643.2_Frame_Shift_Del_p.K312fs			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	336										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)		ATCTCCAACCAAAAATCATTA	0.338																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(934-936)aafs		WD repeat domain 17							154	152	153					4																	177052725		2203	4300	6503	SO:0001589	frameshift_variant	116966							g.chr4:177052725delA	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.1006delA	4.37:g.177052725delA	ENSP00000280190:p.Lys336fs					WDR17_ENST00000508596.1_Frame_Shift_Del_p.K312fs|WDR17_ENST00000280190.4_Frame_Shift_Del_p.K336fs|WDR17_ENST00000507824.2_Frame_Shift_Del_p.K319fs	p.K312fs	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	7	1186	+		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)	336					E7EQX0|Q0QD35	Frame_Shift_Del	DEL	ENST00000280190.4	37	c.934delA	CCDS3825.1																																																																																				0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			7	488						7	488	---	---	---	---	-	177052725	A	-	177052725	7	5	90	1	0	1	0	1	0	0	0	0	17331	131	5	0	1032	0	WDR17	4	177052725	Frame_Shift_Del	DEL	A	TCGA-IB-A7LX-01A-12D-A36O-08	50640863	177052725	14101551	38	33621											
FAM134B	54463	broad.mit.edu	37	chr5	16479052	16479052	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgtaaattttttgtcCaatatcattacatttaaaca	3	6	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:16479052C>A	ENST00000306320.9	-	6	801	c.715G>T	c.(715-717)Gga>Tga	p.G239*	FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	239					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ATTTTTTGTCCAATATCATTA	0.343																																						ENST00000306320.9																			0				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						c.(715-717)Gga>Tga		family with sequence similarity 134, member B							63	58	60					5																	16479052		1817	4064	5881	SO:0001587	stop_gained	54463				sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		g.chr5:16479052C>A	BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.715G>T	5.37:g.16479052C>A	ENSP00000304642:p.Gly239*					FAM134B_ENST00000399793.2_Nonsense_Mutation_p.G98*	p.G239*	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN			6	801	-			239					Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Nonsense_Mutation	SNP	ENST00000306320.9	37	c.715G>T	CCDS43304.1	.	.	.	.	.	.	.	.	.	.	C	40	8.391096	0.98791	.	.	ENSG00000154153	ENST00000399793;ENST00000306320	.	.	.	5.61	5.61	0.85477	.	0.234210	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-6.3758	19.6408	0.95757	0.0:1.0:0.0:0.0	.	.	.	.	X	98;239	.	ENSP00000304642:G239X	G	-	1	0	FAM134B	16532052	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	5.164000	0.64954	2.658000	0.90341	0.585000	0.79938	GGA		0.343	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850		10	669	1	0	2.17888e-05	2.17888e-05	0.00896397	10	669					A	16479052	C	A	16479052	4	1	90	1	0	0	0	0	0	1	0	0	5467	603	21	3	794	3	FAM134B	5	16479052	Nonsense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		16479052	164436208	39	33622											
BDP1	55814	broad.mit.edu	37	chr5	70751780	70751798	+	Frame_Shift_Del	DEL	AATCCCCAGCGTGGACGGG	AATCCCCAGCGTGGACGGG	-													ccaggggctccacagcttccAatccccagcgtggacgggag					rs3748042	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:70751780_70751798delAATCCCCAGCGTGGACGGG	ENST00000358731.4	+	1	339_357	c.76_94delAATCCCCAGCGTGGACGGG	c.(76-96)aatccccagcgtggacgggagfs	p.NPQRGRE26fs	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	26	Interaction with ZBTB43.		N -> S (in dbSNP:rs3748042).		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)		CACAGCTTCCAATCCCCAGCGTGGACGGGAGTCTCCCAG	0.68																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(76-96)agfs		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB																																				SO:0001589	frameshift_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70751780_70751798delAATCCCCAGCGTGGACGGG	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.76_94delAATCCCCAGCGTGGACGGG	5.37:g.70751780_70751798delAATCCCCAGCGTGGACGGG	ENSP00000351575:p.Asn26fs					BDP1_ENST00000380675.2_5'UTR	p.NPQRGRE26fs	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	1	339_357	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	26		N -> S (in dbSNP:rs3748042).	Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Del	DEL	ENST00000358731.4	37	c.76_94delAATCCCCAGCGTGGACGGG	CCDS43328.1																																																																																				0.68	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		14	69						14	69	---	---	---	---	-	70751798	AATCCCCAGCGTGGACGGG	-	70751780	7	5	90	1	0	1	0	1	0	0	0	0	1396	130	5	0	78	0	BDP1	5	70751780	Frame_Shift_Del	DEL	AATCCCCAGCGTGGACGGG	TCGA-IB-A7LX-01A-12D-A36O-08	54272728	70751780	110163480	40	33623											
MYOT	9499	broad.mit.edu	37	chr5	137219194	137219194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttcactcatctttgaagtagTcagagcttcagatgcagggg	11	8	5	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:137219194T>A	ENST00000239926.4	+	7	1312	c.938T>A	c.(937-939)gTc>gAc	p.V313D	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V198D|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	313	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTGAAGTAGTCAGAGCTTCA	0.443																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(937-939)gTc>gAc		myotilin							109	102	104					5																	137219194		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137219194T>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.938T>A	5.37:g.137219194T>A	ENSP00000239926:p.Val313Asp					MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.V198D|MYOT_ENST00000421631.2_Missense_Mutation_p.V129D	p.V313D	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	1312	+			313			Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.938T>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.221755	0.79464	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.72505	-0.66;-0.66;-0.66	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000032	D	0.88276	0.6393	H	0.95816	3.725	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.91887	0.5520	10	0.87932	D	0	.	15.1564	0.72746	0.0:0.0:0.0:1.0	.	313	Q9UBF9	MYOTI_HUMAN	D	313;129;198	ENSP00000239926:V313D;ENSP00000391185:V129D;ENSP00000426281:V198D	ENSP00000239926:V313D	V	+	2	0	MYOT	137247093	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.191000	0.72063	2.021000	0.59480	0.533000	0.62120	GTC		0.443	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		45	241	0	0	0	1.39061e-05	0	45	241					A	137219194	T	A	137219194	3	1	90	1	0	0	0	0	1	0	0	0	10135	1667	58	5	960	5	MYOT	5	137219194	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	66467414	137219194	43696066	41	33624											
COL23A1	91522	broad.mit.edu	37	chr5	177676127	177676127	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagccacataccgggaggccGgacaagcccatctcgcctgc	11	17	1	0	rs373322265		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr5:177676127G>T	ENST00000390654.3	-	19	1497	c.1140C>A	c.(1138-1140)tcC>tcA	p.S380S		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	380	Collagen-like 3.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCGGGAGGCCGGACAAGCCCA	0.637																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1138-1140)tcC>tcA		collagen, type XXIII, alpha 1							152	160	157					5																	177676127		2031	4186	6217	SO:0001819	synonymous_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177676127G>T	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1140C>A	5.37:g.177676127G>T							p.S380S	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	19	1497	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	380			Collagen-like 3.|Gly-rich.		Q8IVR4|Q9NT93	Silent	SNP	ENST00000390654.3	37	c.1140C>A	CCDS4436.1																																																																																				0.637	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		7	518	1	0	5.18039e-06	5.18039e-06	0.00237987	7	518					T	177676127	G	T	177676127	2	4	90	1	0	0	0	0	0	0	0	1	3691	1103	39	3		3	COL23A1	5	177676127	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	40456933	177676127	3239133	42	33625											
HSPA1L	3305	broad.mit.edu	37	chr6	31779009	31779009	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcctttttgtgtttcctcttGaactcctccacgaagtggct	7	12	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:31779009G>T	ENST00000375654.4	-	2	930	c.741C>A	c.(739-741)ttC>ttA	p.F247L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	247					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTTTCCTCTTGAACTCCTCCA	0.577																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(739-741)ttC>ttA		heat shock 70kDa protein 1-like							67	69	68					6																	31779009		2203	4297	6500	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31779009G>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.741C>A	6.37:g.31779009G>T	ENSP00000364805:p.Phe247Leu					HSPA1L_ENST00000417199.3_Missense_Mutation_p.F247L	p.F247L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	930	-			247					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.741C>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758844	0.49468	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01295	5.04;5.04	5.4	4.53	0.55603	.	0.000000	0.36409	N	0.002612	T	0.08268	0.0206	H	0.96460	3.825	0.80722	D	1	D	0.61080	0.989	D	0.87578	0.998	T	0.00827	-1.1550	10	0.87932	D	0	-8.4819	11.7911	0.52070	0.0842:0.0:0.9158:0.0	.	247	P34931	HS71L_HUMAN	L	247;247;192;137	ENSP00000364805:F247L;ENSP00000387691:F247L	ENSP00000364804:F192L	F	-	3	2	HSPA1L	31886988	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	7.770000	0.85390	1.513000	0.48852	0.585000	0.79938	TTC		0.577	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			13	371	1	0	1.49906e-05	1.49906e-05	0.00640621	13	371					T	31779009	G	T	31779009	3	4	90	1	0	0	0	0	1	0	0	0	7440	1281	45	3	1188	3	HSPA1L	6	31779009	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		31779009	139336058	43	33626											
MAP3K5	4217	broad.mit.edu	37	chr6	137113237	137113237	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctcggggatggtgcagaagCccgagggggcgaagggtggc	21	9	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:137113237C>G	ENST00000359015.4	-	1	419	c.59G>C	c.(58-60)gGc>gCc	p.G20A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	20					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)		GGTGCAGAAGCCCGAGGGGGC	0.751																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(58-60)gGc>gCc		mitogen-activated protein kinase kinase kinase 5							5	5	5					6																	137113237		1768	3460	5228	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:137113237C>G	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.59G>C	6.37:g.137113237C>G	ENSP00000351908:p.Gly20Ala						p.G20A	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	1	419	-	Colorectal(23;0.24)		20					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.59G>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	C	9.984	1.228890	0.22542	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.68624	-0.34	3.56	1.67	0.24075	.	0.634408	0.14920	N	0.290736	T	0.20170	0.0485	N	0.14661	0.345	0.18873	N	0.999985	B	0.13594	0.008	B	0.11329	0.006	T	0.29792	-1.0000	10	0.12103	T	0.63	.	7.361	0.26745	0.1664:0.7407:0.0:0.0929	.	20	Q99683	M3K5_HUMAN	A	20;100	ENSP00000351908:G20A	ENSP00000351908:G20A	G	-	2	0	MAP3K5	137154930	0.535000	0.26370	0.016000	0.15963	0.025000	0.11179	2.498000	0.45363	0.287000	0.22375	0.573000	0.79308	GGC		0.751	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			36	34	0	0	0	5.96083e-06	0	36	34					G	137113237	C	G	137113237	3	3	90	1	0	0	0	0	1	0	0	0	9294	739	26	5	4185	5	MAP3K5	6	137113237	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	105334228	137113237	34001830	44	33627											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				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)	p.Q33K(1)		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)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	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.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	780						7	780	---	---	---	---	-	137815212	TGG	-	137815210	7	5	90	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-IB-A7LX-01A-12D-A36O-08	701973	137815210	33299857	45	33628											
STEAP2	261729	broad.mit.edu	37	chr7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-													tagctataagcttggccacaTtttttttcctttattccttt							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108	103	105					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		8	1096						8	1096	---	---	---	---	-	89856465	T	-	89856465	7	5	90	1	0	1	0	1	0	0	0	0	15330	1493	52	0	679	0	STEAP2	7	89856465	Frame_Shift_Del	DEL	T	TCGA-IB-A7LX-01A-12D-A36O-08		89856465	69282198	46	33629											
AKAP9	10142	broad.mit.edu	37	chr7	91736667	91736667	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctggagttatatggagaacCaagacatactacgtatcgct	10	8	0	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:91736667C>A	ENST00000359028.2	+	48	11714	c.11489C>A	c.(11488-11490)cCa>cAa	p.P3830Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3830					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)			TATGGAGAACCAAGACATACT	0.368			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(11488-11490)cCa>cAa		A kinase (PRKA) anchor protein 9							151	149	149					7																	91736667		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91736667C>A	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.11489C>A	7.37:g.91736667C>A	ENSP00000351922:p.Pro3830Gln					AKAP9_ENST00000356239.3_Missense_Mutation_p.P3826Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.P3776Q	p.P3830Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		48	11714	+	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)		3830					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11489C>A		.	.	.	.	.	.	.	.	.	.	C	8.416	0.845249	0.16963	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03301	4.08;4.08;4.06;3.98	5.41	2.32	0.28847	.	0.000000	0.37219	N	0.002189	T	0.01835	0.0058	N	0.02539	-0.55	0.31229	N	0.696541	B;B;B;B;B	0.20671	0.002;0.047;0.028;0.047;0.047	B;B;B;B;B	0.16289	0.004;0.015;0.007;0.015;0.015	T	0.24905	-1.0147	10	0.33141	T	0.24	.	13.1965	0.59740	0.6587:0.3413:0.0:0.0	.	1101;3830;3830;3826;3818	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	Q	3826;3830;3776;3830;1672	ENSP00000348573:P3826Q;ENSP00000351922:P3830Q;ENSP00000350813:P3776Q;ENSP00000378042:P1672Q	ENSP00000348573:P3826Q	P	+	2	0	AKAP9	91574603	0.829000	0.29322	0.985000	0.45067	0.507000	0.33981	1.454000	0.35178	0.813000	0.34350	0.655000	0.94253	CCA		0.368	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		12	755	1	0	3.27435e-08	1.49906e-05	1.58341e-05	12	755					A	91736667	C	A	91736667	3	1	90	1	0	0	0	0	1	0	0	0	459	594	21	3	11667	3	AKAP9	7	91736667	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	1880202	91736667	67401996	47	33630											
SAMD9	54809	broad.mit.edu	37	chr7	92731348	92731348	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtgcttatagcatcctcttGacttttgataagatattcca	6	8	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:92731348G>T	ENST00000379958.2	-	3	4332	c.4063C>A	c.(4063-4065)Caa>Aaa	p.Q1355K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1355						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)			GCATCCTCTTGACTTTTGATA	0.353																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4063-4065)Caa>Aaa		sterile alpha motif domain containing 9							96	102	100					7																	92731348		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92731348G>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4063C>A	7.37:g.92731348G>T	ENSP00000369292:p.Gln1355Lys						p.Q1355K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4332	-	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)		1355					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4063C>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	G	5.138	0.211119	0.09757	.	.	ENSG00000205413	ENST00000379958	T	0.22743	1.94	4.41	4.41	0.53225	.	0.467007	0.18738	N	0.132534	T	0.14141	0.0342	N	0.25647	0.755	0.09310	N	0.999993	B	0.33694	0.421	B	0.29862	0.108	T	0.13495	-1.0507	10	0.10636	T	0.68	-3.4161	16.0645	0.80861	0.0:0.0:1.0:0.0	.	1355	Q5K651	SAMD9_HUMAN	K	1355	ENSP00000369292:Q1355K	ENSP00000369292:Q1355K	Q	-	1	0	SAMD9	92569284	0.011000	0.17503	0.073000	0.20177	0.115000	0.19883	1.580000	0.36547	2.424000	0.82194	0.603000	0.83216	CAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		18	967	1	0	1.64113e-05	1.64113e-05	0.00695942	18	967					T	92731348	G	T	92731348	3	4	90	1	0	0	0	0	1	0	0	0	13876	1299	45	3	710	3	SAMD9	7	92731348	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	994681	92731348	66407315	48	33631											
DYNC1I1	1780	broad.mit.edu	37	chr7	95665004	95665004	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcccaacgggagacgTcaataacttcgtggttggca	12	10	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:95665004T>A	ENST00000324972.6	+	13	1548	c.1355T>A	c.(1354-1356)gTc>gAc	p.V452D	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	452					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)			ACGGGAGACGTCAATAACTTC	0.463																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1354-1356)gTc>gAc		dynein, cytoplasmic 1, intermediate chain 1							323	260	282					7																	95665004		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95665004T>A	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.1355T>A	7.37:g.95665004T>A	ENSP00000320130:p.Val452Asp					DYNC1I1_ENST00000447467.2_Missense_Mutation_p.V435D|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.V432D|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.V415D|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.V415D|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.V435D	p.V452D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1548	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		452					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1355T>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.168707	0.57584	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.74546	2.27	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.996	D;D;D;D;D	0.78314	0.979;0.991;0.991;0.969;0.923	T	0.82631	-0.0362	10	0.11182	T	0.66	0.0118	15.3616	0.74478	0.0:0.0:0.0:1.0	.	435;432;435;452;415	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	D	435;452;415;432;415;435	ENSP00000392337:V435D;ENSP00000320130:V452D;ENSP00000438377:V415D;ENSP00000398118:V432D;ENSP00000352348:V415D;ENSP00000412444:V435D	ENSP00000320130:V452D	V	+	2	0	DYNC1I1	95502940	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	7.868000	0.87116	2.283000	0.76528	0.477000	0.44152	GTC		0.463	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		101	1108	0	0	0	2.47226e-05	0	101	1108					A	95665004	T	A	95665004	3	1	90	1	0	0	0	0	1	0	0	0	4858	1667	58	5	1401	5	DYNC1I1	7	95665004	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	2933656	95665004	63473659	49	33632											
LAMB4	22798	broad.mit.edu	37	chr7	107743496	107743496	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggggactcacgaatgcaCgcgtagggatctgagatggt	15	10	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr7:107743496C>T	ENST00000388781.3	-	10	1256	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	LAMB4_ENST00000388780.3_Silent_p.A391A|LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000418464.1_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	391	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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						CACGAATGCACGCGTAGGGAT	0.577																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1171-1173)gcG>gcA		laminin, beta 4							64	57	59					7																	107743496		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107743496C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1173G>A	7.37:g.107743496C>T						LAMB4_ENST00000205386.4_Silent_p.A391A|LAMB4_ENST00000414450.2_Silent_p.A391A|LAMB4_ENST00000388780.3_Silent_p.A391A	p.A391A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			10	1256	-			391			Laminin EGF-like 2.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.1173G>A	CCDS34732.1																																																																																				0.577	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		22	78	0	0	0	7.33532e-06	0	22	78					T	107743496	C	T	107743496	2	4	90	1	0	0	0	0	0	0	0	1	8644	523	19	1		1	LAMB4	7	107743496	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	12078492	107743496	51395167	50	33633											
RP1L1	94137	broad.mit.edu	37	chr8	10480104	10480104	+	Splice_Site	DEL	T	T	-													tcagaccccaacagcctaccTttttcccgctggtcgtgtac							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:10480104delT	ENST00000382483.3	-	2	831	c.608delA	c.(607-609)aag>ag	p.K203fs	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)		ACAGCCTACCTTTTTCCCGCT	0.483																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.e2+1		retinitis pigmentosa 1-like 1							153	142	145					8																	10480104		1893	4128	6021	SO:0001630	splice_region_variant	94137				intracellular signal transduction			g.chr8:10480104delT	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.609+1A>-	8.37:g.10480104delT						RP1L1_ENST00000329335.3_5'UTR	p.K203_splice	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	831	-			203					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Splice_Site	DEL	ENST00000382483.3	37	c.609_splice	CCDS43708.1																																																																																				0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		Frame_Shift_Del	9	752						9	752	---	---	---	---	-	10480104	T	-	10480104	8	5	90	1	0	1	0	1	0	0	1	0	13583	1623	56	0	6606	0	RP1L1	8	10480104	Splice_Site	DEL	T	TCGA-IB-A7LX-01A-12D-A36O-08		10480104	135883918	51	33634											
KCTD9	54793	broad.mit.edu	37	chr8	25296876	25296876	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaagtactcaggacttcGgtcaattaagaaagctcctc	8	10	2	1	rs368385732		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:25296876G>T	ENST00000221200.4	-	6	638	c.418C>A	c.(418-420)Cga>Aga	p.R140R	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	140	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TCAGGACTTCGGTCAATTAAG	0.368																																						ENST00000221200.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12						c.(418-420)Cga>Aga		potassium channel tetramerization domain containing 9							40	40	40					8																	25296876		2203	4299	6502	SO:0001819	synonymous_variant	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25296876G>T	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"BTB/POZ domain containing"	22401	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 9"			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.418C>A	8.37:g.25296876G>T						KCTD9_ENST00000518067.1_5'UTR	p.R140R	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	6	638	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	140			BTB.		Q6NUM8|Q9NXV4	Silent	SNP	ENST00000221200.4	37	c.418C>A	CCDS6048.1																																																																																				0.368	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		6	206	1	0	5.4927e-09	1.12685e-05	2.70359e-06	6	206					T	25296876	G	T	25296876	2	4	90	1	0	0	0	0	0	0	0	1	8146	1124	39	3		3	KCTD9	8	25296876	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	14816772	25296876	121067146	52	33635											
PREX2	80243	broad.mit.edu	37	chr8	68981315	68981315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacagatgttatatagatttCgctatgatgatggaacattt	8	4	0	4			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:68981315C>T	ENST00000288368.4	+	12	1664	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	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	463	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				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.R463C(2)		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						ATATAGATTTCGCTATGATGA	0.348																																						ENST00000288368.4																			2	Substitution - Missense(2)	p.R463C(2)	skin(2)	NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1387-1389)Cgc>Tgc		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							76	71	73					8																	68981315		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68981315C>T	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.1387C>T	8.37:g.68981315C>T	ENSP00000288368:p.Arg463Cys					PREX2_ENST00000529398.1_3'UTR	p.R463C	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			12	1664	+			463			DEP 1.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1387C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751767	0.89753	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.14391	2.51	5.72	4.84	0.62591	DEP domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.60904	1.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.08576	-1.0715	10	0.87932	D	0	.	15.0201	0.71624	0.0:0.9317:0.0:0.0683	.	463;463;463	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	C	463	ENSP00000288368:R463C	ENSP00000288368:R463C	R	+	1	0	PREX2	69143869	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.566000	0.82347	1.559000	0.49555	0.650000	0.86243	CGC		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		74	121	0	0	0	2.47226e-05	0	74	121					T	68981315	C	T	68981315	3	4	90	1	0	0	0	0	1	0	0	0	12524	884	31	1	1433	1	PREX2	8	68981315	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	43684439	68981315	77382707	53	33636											
JPH1	56704	broad.mit.edu	37	chr8	75227735	75227735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccattgctctgctcgctgCgcagcgaggccagcgaggta	14	13	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:75227735C>T	ENST00000342232.4	-	2	540	c.500G>A	c.(499-501)cGc>cAc	p.R167H		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	167					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGCTCGCTGCGCAGCGAGGC	0.721																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(499-501)cGc>cAc		junctophilin 1							13	13	13					8																	75227735		2125	4151	6276	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227735C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.500G>A	8.37:g.75227735C>T	ENSP00000344488:p.Arg167His						p.R167H	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	540	-	Breast(64;0.00576)		167					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.500G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214836	0.95104	.	.	ENSG00000104369	ENST00000342232	T	0.63913	-0.07	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82824	-0.0266	10	0.49607	T	0.09	.	17.2378	0.87004	0.0:1.0:0.0:0.0	.	167	Q9HDC5	JPH1_HUMAN	H	167	ENSP00000344488:R167H	ENSP00000344488:R167H	R	-	2	0	JPH1	75390290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.489000	0.81451	2.284000	0.76573	0.655000	0.94253	CGC		0.721	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			7	77	0	0	0	2.0095e-06	0	7	77					T	75227735	C	T	75227735	3	4	90	1	0	0	0	0	1	0	0	0	7990	768	27	1	1501	1	JPH1	8	75227735	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	6246420	75227735	71136287	54	33637											
RIMS2	9699	broad.mit.edu	37	chr8	104927779	104927779	+	Frame_Shift_Del	DEL	A	A	-													tgtgcatttattactaaagtAaaaaaaggaagtttagctga					rs369114535		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:104927779delA	ENST00000436393.2	+	5	1444	c.1203delA	c.(1201-1203)gtafs	p.V401fs	RIMS2_ENST00000406091.3_Frame_Shift_Del_p.V623fs|RIMS2_ENST00000507740.1_Frame_Shift_Del_p.V431fs|RIMS2_ENST00000262231.10_Frame_Shift_Del_p.V478fs			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	701					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.G434fs*3(1)|p.G709fs*3(1)|p.G404fs*3(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)			TTACTAAAGTAAAAAAAGGAA	0.323										HNSCC(12;0.0054)																												ENST00000507740.1																			3	Deletion - Frameshift(3)	p.G434fs*3(1)|p.G709fs*3(1)|p.G404fs*3(1)	large_intestine(3)	NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1291-1293)gtfs		regulating synaptic membrane exocytosis 2							98	94	95					8																	104927779		1817	4076	5893	SO:0001589	frameshift_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104927779delA	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.1203delA	8.37:g.104927779delA	ENSP00000390665:p.Val401fs	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Frame_Shift_Del_p.V478fs|RIMS2_ENST00000406091.3_Frame_Shift_Del_p.V623fs|RIMS2_ENST00000436393.2_Frame_Shift_Del_p.V401fs	p.V431fs	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		5	1529	+			701					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Frame_Shift_Del	DEL	ENST00000436393.2	37	c.1293delA																																																																																					0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		7	384						7	384	---	---	---	---	-	104927779	A	-	104927779	7	5	90	1	0	1	0	1	0	0	0	0	13418	349	13	0	2021	0	RIMS2	8	104927779	Frame_Shift_Del	DEL	A	TCGA-IB-A7LX-01A-12D-A36O-08	29700044	104927779	41436243	55	33638											
FAM135B	51059	broad.mit.edu	37	chr8	139144922	139144922	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcgatgtgagcggctcggcCgatcagggtgttggcagtgt	18	8	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr8:139144922C>A	ENST00000395297.1	-	20	4305	c.4135G>T	c.(4135-4137)Ggc>Tgc	p.G1379C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1379										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)			GCGGCTCGGCCGATCAGGGTG	0.542										HNSCC(54;0.14)																												ENST00000395297.1																			0				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						c.(4135-4137)Ggc>Tgc		family with sequence similarity 135, member B							193	205	201					8																	139144922		1976	4153	6129	SO:0001583	missense	51059							g.chr8:139144922C>A	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.4135G>T	8.37:g.139144922C>A	ENSP00000378710:p.Gly1379Cys	HNSCC(54;0.14)					p.G1379C	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		20	4305	-	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)		1379					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.4135G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	32	5.192688	0.94960	.	.	ENSG00000147724	ENST00000395297	T	0.55413	0.52	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80973	-0.1143	10	0.87932	D	0	-24.2159	18.9188	0.92516	0.0:1.0:0.0:0.0	.	1379	Q49AJ0	F135B_HUMAN	C	1379	ENSP00000378710:G1379C	ENSP00000378710:G1379C	G	-	1	0	FAM135B	139214104	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.786000	0.85741	2.732000	0.93576	0.591000	0.81541	GGC		0.542	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		12	1318	1	0	2.17888e-05	2.17888e-05	0.00896397	12	1318					A	139144922	C	A	139144922	3	1	90	1	0	0	0	0	1	0	0	0	5470	652	23	3	89	3	FAM135B	8	139144922	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	34217143	139144922	7219100	56	33639											
SARDH	1757	broad.mit.edu	37	chr9	136573530	136573530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatccagcgggggtggtccGtgagcgagtgatggaagcgc	20	8	0	2	rs201111406		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr9:136573530G>A	ENST00000371872.4	-	11	1606	c.1349C>T	c.(1348-1350)aCg>aTg	p.T450M	SARDH_ENST00000422262.2_Missense_Mutation_p.T282M|SARDH_ENST00000439388.1_Missense_Mutation_p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	450					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)		GGGGTGGTCCGTGAGCGAGTG	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		14287	0.0		0.001	False		,,,				2504	0.0					ENST00000371872.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44						c.(1348-1350)aCg>aTg		sarcosine dehydrogenase							57	65	62					9																	136573530		2203	4300	6503	SO:0001583	missense	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573530G>A		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.1349C>T	9.37:g.136573530G>A	ENSP00000360938:p.Thr450Met					SARDH_ENST00000439388.1_Missense_Mutation_p.T450M|SARDH_ENST00000422262.2_Missense_Mutation_p.T282M	p.T450M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1606	-			450					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	ENST00000371872.4	37	c.1349C>T	CCDS6978.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.65	2.300782	0.40694	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000422262;ENST00000427237;ENST00000539227	D;D;D	0.85088	-1.94;-1.94;-1.94	5.15	5.15	0.70609	.	0.281286	0.39341	N	0.001396	T	0.81498	0.4835	L	0.45228	1.405	0.80722	D	1	P	0.40083	0.702	B	0.37091	0.241	T	0.82196	-0.0577	10	0.42905	T	0.14	-24.2495	18.6122	0.91290	0.0:0.0:1.0:0.0	.	450	Q9UL12	SARDH_HUMAN	M	450;450;282;450;450	ENSP00000360938:T450M;ENSP00000403084:T450M;ENSP00000415537:T282M	ENSP00000360938:T450M	T	-	2	0	SARDH	135563351	1.000000	0.71417	0.902000	0.35471	0.054000	0.15201	7.704000	0.84595	2.378000	0.81104	0.557000	0.71058	ACG		0.652	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			8	253	0	0	0	2.17888e-05	0	8	253					A	136573530	G	A	136573530	3	1	90	1	0	0	0	0	1	0	0	0	13891	1145	40	1	1451	1	SARDH	9	136573530	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		136573530	4639901	57	33640											
GPR158	57512	broad.mit.edu	37	chr10	25701403	25701403	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	accactttcgcaaagcaaagGtaaacccaggaaccctggtt	8	12	0	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:25701403G>T	ENST00000376351.3	+	4	1694		c.e4+1			NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						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						CAAAGCAAAGGTAAACCCAGG	0.433																																						ENST00000376351.3																			0				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						c.e4+1		G protein-coupled receptor 158							118	103	108					10																	25701403		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25701403G>T	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.1335+1G>T	10.37:g.25701403G>T								NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			4	1694	+								Q6QR81|Q9ULT3	Splice_Site	SNP	ENST00000376351.3	37		CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999869	0.93227	.	.	ENSG00000151025	ENST00000376351	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR158	25741409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.252000	0.95491	2.937000	0.99478	0.650000	0.86243	.		0.433	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Intron	45	303	1	0	1.57945e-13	1.69351e-05	8.06224e-11	45	303					T	25701403	G	T	25701403	5	4	90	1	0	0	0	0	0	0	1	0	6692	1275	44	3	1350	3	GPR158	10	25701403	Splice_Site	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		25701403	109833344	58	33641											
MPP7	143098	broad.mit.edu	37	chr10	28412986	28412986	+	Frame_Shift_Del	DEL	T	T	-													ctgtattatttcctcaggccTtttatcctccactggtatcc							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:28412986delT	ENST00000375732.1	-	8	848	c.589delA	c.(589-591)aggfs	p.R197fs	MPP7_ENST00000375719.3_Frame_Shift_Del_p.R197fs|MPP7_ENST00000540098.1_Frame_Shift_Del_p.R197fs|MPP7_ENST00000481244.1_5'Flank|MPP7_ENST00000445954.2_Frame_Shift_Del_p.R72fs|MPP7_ENST00000337532.5_Frame_Shift_Del_p.R197fs			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	197	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCTCAGGCCTTTTATCCTCC	0.353																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(589-591)ggfs		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							101	102	101					10																	28412986		2203	4300	6503	SO:0001589	frameshift_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28412986delT	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.589delA	10.37:g.28412986delT	ENSP00000364884:p.Arg197fs					MPP7_ENST00000540098.1_Frame_Shift_Del_p.R197fs|MPP7_ENST00000445954.2_Frame_Shift_Del_p.R72fs|MPP7_ENST00000375719.3_Frame_Shift_Del_p.R197fs|MPP7_ENST00000375732.1_Frame_Shift_Del_p.R197fs	p.R197fs	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			9	865	-			197			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Frame_Shift_Del	DEL	ENST00000375732.1	37	c.589delA	CCDS7158.1																																																																																				0.353	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		7	920						7	920	---	---	---	---	-	28412986	T	-	28412986	7	5	90	1	0	1	0	1	0	0	0	0	9780	1608	56	0	1181	0	MPP7	10	28412986	Frame_Shift_Del	DEL	T	TCGA-IB-A7LX-01A-12D-A36O-08	2711583	28412986	107121761	59	33642											
VTI1A	143187	broad.mit.edu	37	chr10	114220332	114220333	+	Frame_Shift_Ins	INS	-	-	A													agaaacagcttgaagaagcgINSaaagaactggtatgtacaga					rs201100936		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:114220332_114220333insA	ENST00000393077.2	+	2	260_261	c.144_145insA	c.(145-147)aaafs	p.K49fs	VTI1A_ENST00000432306.1_Frame_Shift_Ins_p.K49fs	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	49					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)		TTGAAGAAGCGAAAGAACTGGT	0.342			T	TCF7L2	colorectal																																	ENST00000393077.2				Dom	yes		10	10q25.2	143187	T	vesicle transport through interaction with t-SNAREs homolog 1A			E	TCF7L2		colorectal	VTI1A/TCF7L2(8)	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(142-147)gcaagafs		vesicle transport through interaction with t-SNAREs 1A																																				SO:0001589	frameshift_variant	143187				intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity	g.chr10:114220332_114220333insA	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.147dupA	10.37:g.114220335_114220335dupA	ENSP00000376792:p.Lys49fs					VTI1A_ENST00000432306.1_Frame_Shift_Ins_p.R49fs	p.R49fs	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN		Epithelial(162;0.0126)|all cancers(201;0.0487)	2	260_261	+		Colorectal(252;0.0314)|Breast(234;0.183)	49					A2A307|B4E137|Q5W0D7	Frame_Shift_Ins	INS	ENST00000393077.2	37	c.144_145insA	CCDS7575.2																																																																																				0.342	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050397.2			7	319						7	319	---	---	---	---	A	114220333	-	A	114220332	7	5	90	1	0	1	1	0	0	0	0	0	17289	1045	37	0	150	0	VTI1A	10	114220332	Frame_Shift_Ins	INS	-	TCGA-IB-A7LX-01A-12D-A36O-08	85807346	114220332	21314415	60	33643											
TACC2	10579	broad.mit.edu	37	chr10	123971198	123971200	+	In_Frame_Del	DEL	AAG	AAG	-													atgggctaaacaagcccgccAagaagaagaagacgccccta							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr10:123971198_123971200delAAG	ENST00000369005.1	+	9	7598_7600	c.7258_7260delAAG	c.(7258-7260)aagdel	p.K2423del	TACC2_ENST00000260733.3_In_Frame_Del_p.K501del|TACC2_ENST00000453444.2_In_Frame_Del_p.K2427del|TACC2_ENST00000513429.1_In_Frame_Del_p.K569del|TACC2_ENST00000515273.1_In_Frame_Del_p.K2427del|TACC2_ENST00000515603.1_In_Frame_Del_p.K2378del|TACC2_ENST00000369000.1_In_Frame_Del_p.K127del|TACC2_ENST00000360561.3_In_Frame_Del_p.K501del|TACC2_ENST00000369001.1_In_Frame_Del_p.K127del|TACC2_ENST00000358010.1_In_Frame_Del_p.K569del|TACC2_ENST00000334433.3_In_Frame_Del_p.K2423del|TACC2_ENST00000369004.3_In_Frame_Del_p.K501del|TACC2_ENST00000368999.1_In_Frame_Del_p.K501del	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2423	Poly-Lys.				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)				CAAGCCCGCCAAGAAGAAGAAGA	0.576																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7258-7260)del		transforming, acidic coiled-coil containing protein 2																																				SO:0001651	inframe_deletion	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123971198_123971200delAAG	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.7258_7260delAAG	10.37:g.123971207_123971209delAAG	ENSP00000358001:p.Lys2423del					TACC2_ENST00000513429.1_In_Frame_Del_p.K569del|TACC2_ENST00000453444.2_In_Frame_Del_p.K2427del|TACC2_ENST00000260733.3_In_Frame_Del_p.K501del|TACC2_ENST00000369004.3_In_Frame_Del_p.K501del|TACC2_ENST00000368999.1_In_Frame_Del_p.K501del|TACC2_ENST00000358010.1_In_Frame_Del_p.K569del|TACC2_ENST00000369000.1_In_Frame_Del_p.K127del|TACC2_ENST00000515273.1_In_Frame_Del_p.K2427del|TACC2_ENST00000369001.1_In_Frame_Del_p.K127del|TACC2_ENST00000360561.3_In_Frame_Del_p.K501del|TACC2_ENST00000334433.3_In_Frame_Del_p.K2423del|TACC2_ENST00000515603.1_In_Frame_Del_p.K2378del	p.K2423del	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7598_7600	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2423			Poly-Lys.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	In_Frame_Del	DEL	ENST00000369005.1	37	c.7258_7260delAAG	CCDS7626.1																																																																																				0.576	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	309						7	309	---	---	---	---	-	123971200	AAG	-	123971198	7	5	90	1	0	1	0	1	0	0	0	0	15554	131	5	0	7360	0	TACC2	10	123971198	In_Frame_Del	DEL	AAG	TCGA-IB-A7LX-01A-12D-A36O-08	9750866	123971198	11563549	61	33644											
DNHD1	144132	broad.mit.edu	37	chr11	6593035	6593035	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggccccgggcaccaGtgacctgccagccccagccg	11	20	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:6593035G>A	ENST00000527990.2	+	41	14081	c.14081G>A	c.(14080-14082)aGt>aAt	p.S4694N	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4694N			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4694					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)		CCGGGCACCAGTGACCTGCCA	0.637																																						ENST00000254579.6																			0				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						c.(14080-14082)aGt>aAt		dynein heavy chain domain 1							46	56	53					11																	6593035		2136	4246	6382	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6593035G>A	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.14081G>A	11.37:g.6593035G>A	ENSP00000436180:p.Ser4694Asn					DNHD1_ENST00000527990.2_Missense_Mutation_p.S4694N	p.S4694N	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14645	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4694					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.14081G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	1.262	-0.615437	0.03663	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.26067	1.76;1.76	4.75	-5.17	0.02849	Dynein heavy chain (1);	1.578020	0.03032	N	0.152237	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28490	-1.0042	10	0.12103	T	0.63	1.5404	9.9464	0.41611	0.1879:0.1309:0.6813:0.0	.	3782;747;4694	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	N	4694;4694;962	ENSP00000254579:S4694N;ENSP00000436180:S4694N	ENSP00000254579:S4694N	S	+	2	0	DNHD1	6549611	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.007000	0.03667	-0.921000	0.03794	-0.165000	0.13383	AGT		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		46	149	0	0	0	1.69351e-05	0	46	149					A	6593035	G	A	6593035	3	1	90	1	0	0	0	0	1	0	0	0	4684	1029	36	2	14252	2	DNHD1	11	6593035	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		6593035	128413481	62	33645											
NRIP3	56675	broad.mit.edu	37	chr11	9007342	9007342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactactttgagatgccGgggtagagaaagcttttctc	11	10	1	2	rs61756060	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:9007342G>A	ENST00000309166.3	-	4	591	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	NRIP3_ENST00000531090.1_Intron	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	160							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		TTGAGATGCCGGGGTAGAGAA	0.512													G|||	6	0.00119808	0.0	0.0029	5008	,	,		18127	0.0		0.002	False		,,,				2504	0.002					ENST00000309166.3																			0				large_intestine(1)|lung(4)|skin(1)|stomach(1)	7						c.(478-480)Cgg>Tgg		nuclear receptor interacting protein 3		G	TRP/ARG	4,4398	8.1+/-20.4	0,4,2197	190	196	194		478	5.1	1	11	dbSNP_129	194	43,8549	27.9+/-77.7	0,43,4253	yes	missense	NRIP3	NM_020645.2	101	0,47,6450	AA,AG,GG		0.5005,0.0909,0.3617	probably-damaging	160/242	9007342	47,12947	2201	4296	6497	SO:0001583	missense	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9007342G>A	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"chromosome 11 open reading frame 14"	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.478C>T	11.37:g.9007342G>A	ENSP00000310205:p.Arg160Trp					NRIP3_ENST00000531090.1_Intron	p.R160W	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	4	591	-			160					Q86WD9	Missense_Mutation	SNP	ENST00000309166.3	37	c.478C>T	CCDS31422.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	19.99	3.928613	0.73327	9.09E-4	0.005005	ENSG00000175352	ENST00000309166;ENST00000525100	T	0.42131	0.98	6.02	5.11	0.69529	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);	0.335324	0.29791	N	0.011187	T	0.45677	0.1354	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	P	0.57846	0.828	T	0.48317	-0.9046	10	0.38643	T	0.18	.	12.626	0.56630	0.0774:0.0:0.9226:0.0	rs61756060	160	Q9NQ35	NRIP3_HUMAN	W	160;153	ENSP00000310205:R160W	ENSP00000310205:R160W	R	-	1	2	NRIP3	8963918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.368000	0.44222	1.565000	0.49641	0.655000	0.94253	CGG		0.512	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		26	484	0	0	0	9.90768e-06	0	26	484					A	9007342	G	A	9007342	3	1	90	1	0	0	0	0	1	0	0	0	10696	1115	39	1	263	1	NRIP3	11	9007342	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	2414307	9007342	125999174	63	33646											
CKAP5	9793	broad.mit.edu	37	chr11	46783565	46783565	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcacatttccaatcagtttGaacacctgatccccatgtac	4	14	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:46783565G>T	ENST00000529230.1	-	32	4252	c.4206C>A	c.(4204-4206)ttC>ttA	p.F1402L	CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L|CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1402					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						CAATCAGTTTGAACACCTGAT	0.443																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				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						c.(4204-4206)ttC>ttA		cytoskeleton associated protein 5							124	102	110					11																	46783565		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46783565G>T		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.4206C>A	11.37:g.46783565G>T	ENSP00000432768:p.Phe1402Leu					CKAP5_ENST00000312055.5_Missense_Mutation_p.F1402L|CKAP5_ENST00000354558.3_Missense_Mutation_p.F1402L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F1402L	p.F1402L			Q14008	CKAP5_HUMAN			32	4252	-			1402					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4206C>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057912	0.76074	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.046816	0.85682	D	0.000000	T	0.46151	0.1378	L	0.51422	1.61	0.80722	D	1	P;B;B	0.46859	0.885;0.004;0.005	P;B;B	0.45753	0.492;0.003;0.005	T	0.19582	-1.0301	10	0.25106	T	0.35	-9.4526	19.8145	0.96560	0.0:0.0:1.0:0.0	.	1402;1402;1402	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	1402;1402;1402;1402;125	ENSP00000432768:F1402L;ENSP00000395302:F1402L;ENSP00000310227:F1402L;ENSP00000346566:F1402L	ENSP00000310227:F1402L	F	-	3	2	CKAP5	46740141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	TTC		0.443	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		9	330	1	0	2.17888e-05	2.17888e-05	0.00896397	9	330					T	46783565	G	T	46783565	3	4	90	1	0	0	0	0	1	0	0	0	3454	1281	45	3	1944	3	CKAP5	11	46783565	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	37776223	46783565	88222951	64	33647											
OR4C15	81309	broad.mit.edu	37	chr11	55322649	55322649	+	Silent	SNP	T	T	A													tctgaagggcgctggaaagcTctctccacctgtggatctca							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322649T>A	ENST00000314644.2	+	1	867	c.867T>A	c.(865-867)gcT>gcA	p.A289A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	235						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						GCTGGAAAGCTCTCTCCACCT	0.438										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(865-867)gcT>gcA		olfactory receptor, family 4, subfamily C, member 15							232	216	222					11																	55322649		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322649T>A	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.867T>A	11.37:g.55322649T>A		HNSCC(20;0.049)					p.A289A	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	867	+			235					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.867T>A	CCDS31501.1																																																																																				0.438	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		175	276	0	0	0	2.47226e-05	0	175	276					A	55322649	T	A	55322649	2	1	90	1	0	0	0	0	0	0	0	1	11090	1538	54	5		5	OR4C15	11	55322649	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	8539084	55322649	79683867	65	33648	217	2									
OR4C15	81309	broad.mit.edu	37	chr11	55322650	55322650	+	Missense_Mutation	SNP	C	C	A													ctgaagggcgctggaaagctCtctccacctgtggatctcac							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:55322650C>A	ENST00000314644.2	+	1	868	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	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(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGGAAAGCTCTCTCCACCTG	0.433										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(868-870)Ctc>Atc		olfactory receptor, family 4, subfamily C, member 15							234	217	223					11																	55322650		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322650C>A	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.868C>A	11.37:g.55322650C>A	ENSP00000324958:p.Leu290Ile	HNSCC(20;0.049)					p.L290I	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	868	+			236					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.868C>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141818	0.37825	.	.	ENSG00000181939	ENST00000314644	T	0.00137	8.68	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.81682	2.555	0.25891	N	0.983471	P	0.44195	0.828	P	0.48524	0.58	T	0.42965	-0.9420	9	0.87932	D	0	.	9.2831	0.37740	0.0:0.9041:0.0:0.0959	.	236	Q8NGM1	OR4CF_HUMAN	I	290	ENSP00000324958:L290I	ENSP00000324958:L290I	L	+	1	0	OR4C15	55079226	0.000000	0.05858	0.971000	0.41717	0.282000	0.26991	-0.491000	0.06474	2.608000	0.88229	0.385000	0.25706	CTC		0.433	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		176	276	1	0	9.15566e-77	2.47226e-05	4.76164e-74	176	276					A	55322650	C	A	55322650	3	1	90	1	0	0	0	0	1	0	0	0	11090	913	32	3	870	3	OR4C15	11	55322650	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	1	55322650	79683866	66	33649	217	2									
EML3	256364	broad.mit.edu	37	chr11	62370095	62370095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtgcgagtcgtcgtgcGtgaatcggacgctggtcacg	17	10	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:62370095G>A	ENST00000394773.2	-	22	2850	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M	EML3_ENST00000278845.4_Missense_Mutation_p.T849M|MTA2_ENST00000278823.2_5'Flank|EML3_ENST00000531557.1_Missense_Mutation_p.T631M|EML3_ENST00000494176.2_Silent_p.H783H|EML3_ENST00000529309.1_Silent_p.H811H|MTA2_ENST00000527204.1_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	848						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						GTCGTCGTGCGTGAATCGGAC	0.746																																						ENST00000394773.2																			0				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						c.(2542-2544)aCg>aTg		echinoderm microtubule associated protein like 3							14	10	11					11																	62370095		2136	4209	6345	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62370095G>A	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.2543C>T	11.37:g.62370095G>A	ENSP00000378254:p.Thr848Met					EML3_ENST00000529309.1_Silent_p.H811H|EML3_ENST00000531557.1_Missense_Mutation_p.T631M|EML3_ENST00000278845.4_Missense_Mutation_p.T849M|EML3_ENST00000494176.2_Silent_p.H783H	p.T848M	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			22	2850	-			848					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.2543C>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.126410|4.126410	0.77549|0.77549	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000439994;ENST00000394773;ENST00000278845;ENST00000531557	.|T;T;T;T	.|0.41400	.|2.28;1.52;1.0;1.0	4.96|4.96	4.96|4.96	0.65561|0.65561	.|WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.|0.511488	.|0.19627	.|N	.|0.109775	T|T	0.54191|0.54191	0.1843|0.1843	L|L	0.39397|0.39397	1.21|1.21	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.995;0.882;0.999	.|P;B;D	.|0.66351	.|0.832;0.325;0.943	T|T	0.50775|0.50775	-0.8788|-0.8788	5|10	.|0.42905	.|T	.|0.14	-32.5046|-32.5046	16.0654|16.0654	0.80867|0.80867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|848;631;849	.|Q32P44;G3V195;B7WPE2	.|EMAL3_HUMAN;.;.	C|M	806|89;848;849;631	.|ENSP00000409611:T89M;ENSP00000378254:T848M;ENSP00000278845:T849M;ENSP00000433417:T631M	.|ENSP00000278845:T849M	R|T	-|-	1|2	0|0	EML3|EML3	62126671|62126671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.027000|3.027000	0.49697|0.49697	2.472000|2.472000	0.83506|0.83506	0.462000|0.462000	0.41574|0.41574	CGC|ACG		0.746	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		4	36	0	0	0	2.56e-06	0	4	36					A	62370095	G	A	62370095	3	1	90	1	0	0	0	0	1	0	0	0	5116	1145	40	1	151	1	EML3	11	62370095	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	7047445	62370095	72636421	67	33650											
C11orf30	56946	broad.mit.edu	37	chr11	76257216	76257216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcgagtccatccactGttggctcttccctaacgaca	7	15	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:76257216G>A	ENST00000529032.1	+	19	3649	c.3649G>A	c.(3649-3651)Gtt>Att	p.V1217I	C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1217					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCATCCACTGTTGGCTCTTC	0.512																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3649-3651)Gtt>Att		chromosome 11 open reading frame 30							87	89	88					11																	76257216		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257216G>A	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3649G>A	11.37:g.76257216G>A	ENSP00000432327:p.Val1217Ile					C11orf30_ENST00000334736.3_Missense_Mutation_p.V1217I|C11orf30_ENST00000524490.1_Missense_Mutation_p.V1119I|C11orf30_ENST00000525038.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000525919.1_Missense_Mutation_p.V1218I|C11orf30_ENST00000524767.1_Missense_Mutation_p.V1232I|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.V1126I	p.V1217I			Q7Z589	EMSY_HUMAN			19	3649	+			1217					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.3649G>A	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	9.733	1.162780	0.21538	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	3.0	0.34707	.	0.499003	0.20569	N	0.089772	T	0.36166	0.0957	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B	0.22346	0.068;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20767	0.031;0.0;0.0;0.0;0.0;0.0	T	0.15150	-1.0447	9	0.27082	T	0.32	-1.8144	9.3812	0.38316	0.1312:0.119:0.7498:0.0	.	1126;1218;1232;1218;1119;1217	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	I	1119;1217;899;1232;1126;1218;1218;1217	.	ENSP00000334130:V1217I	V	+	1	0	C11orf30	75934864	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.038000	0.41184	1.580000	0.49851	0.650000	0.86243	GTT		0.512	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		14	326	0	0	0	2.31682e-05	0	14	326					A	76257216	G	A	76257216	3	1	90	1	0	0	0	0	1	0	0	0	1641	1377	48	2	3723	2	C11orf30	11	76257216	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	13887121	76257216	58749300	68	33651											
NOX4	50507	broad.mit.edu	37	chr11	89133524	89133524	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcggcacagtacaggcacaaAggtccagaaatccaaagcca	9	12	0	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:89133524A>G	ENST00000263317.4	-	10	1108	c.870T>C	c.(868-870)ccT>ccC	p.P290P	NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000424319.1_Silent_p.P266P|NOX4_ENST00000535633.1_Silent_p.P266P|NOX4_ENST00000527956.1_Silent_p.P266P			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	290	Ferric oxidoreductase.|Mediates interaction with TLR4.				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)				ACAGGCACAAAGGTCCAGAAA	0.398																																						ENST00000535633.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(796-798)ccT>ccC		NADPH oxidase 4							48	46	47					11																	89133524		2201	4299	6500	SO:0001819	synonymous_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89133524A>G	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.870T>C	11.37:g.89133524A>G						NOX4_ENST00000532825.1_Silent_p.P266P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000542487.1_Silent_p.P266P|NOX4_ENST00000527956.1_Silent_p.P266P|NOX4_ENST00000263317.4_Silent_p.P290P|NOX4_ENST00000343727.5_Silent_p.P266P|NOX4_ENST00000413594.2_Silent_p.P311P|NOX4_ENST00000527626.1_Silent_p.P124P|NOX4_ENST00000528341.1_Silent_p.P265P|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Silent_p.P290P|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Silent_p.P266P	p.P266P	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			10	1108	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	290			Ferric oxidoreductase.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	c.798T>C	CCDS8285.1																																																																																				0.398	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		10	199	0	0	0	3.07112e-06	0	10	199					G	89133524	A	G	89133524	2	3	90	1	0	0	0	0	0	0	0	1	10600	59	3	4		4	NOX4	11	89133524	Silent	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	12876308	89133524	45872992	69	33652											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000264020.2_In_Frame_Del_p.D92del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000264021.3_In_Frame_Del_p.D41del|IFT46_ENST00000530872.1_In_Frame_Del_p.D92del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		8	468						8	468	---	---	---	---	-	118427685	ATC	-	118427683	7	5	90	1	0	1	0	1	0	0	0	0	7590	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-IB-A7LX-01A-12D-A36O-08	29294159	118427683	16578833	70	33653											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-													agcagccaccgccacctcaaCagcagcagcagcagcagcag					rs372118289		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.64	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		15	289						15	289	---	---	---	---	-	8200560	CAG	-	8200558	7	5	90	1	0	1	0	1	0	0	0	0	6039	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-IB-A7LX-01A-12D-A36O-08		8200558	125651337	71	33654											
RERG	85004	broad.mit.edu	37	chr12	15262086	15262086	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcttgttaatggcttgcttGacatgcgtggtggagctgcg	14	7	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:15262086G>T	ENST00000256953.2	-	5	894	c.558C>A	c.(556-558)gtC>gtA	p.V186V	RERG_ENST00000536465.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000538313.1_Silent_p.V186V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	186					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGCTTGCTTGACATGCGTGG	0.517																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(556-558)gtC>gtA		RAS-like, estrogen-regulated, growth inhibitor							125	118	120					12																	15262086		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262086G>T	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.558C>A	12.37:g.15262086G>T						RERG_ENST00000538313.1_Silent_p.V186V|RERG_ENST00000546331.1_Silent_p.V167V|RERG_ENST00000536465.1_Silent_p.V186V	p.V186V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	894	-			186					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.558C>A	CCDS8673.1																																																																																				0.517	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		16	858	1	0	2.48779e-11	1.32003e-05	1.24679e-08	16	858					T	15262086	G	T	15262086	2	4	90	1	0	0	0	0	0	0	0	1	13282	1277	45	3		3	RERG	12	15262086	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	7061528	15262086	118589809	72	33655											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		230	218	0	0	0	2.47226e-05	0	230	218					T	25398284	C	T	25398284	3	4	90	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	10136198	25398284	108453611	73	33656											
FAR2	55711	broad.mit.edu	37	chr12	29446305	29446305	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctatttatgcagatctcaatCagaatgactttgccatcagc	6	10	3	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:29446305C>A	ENST00000536681.3	+	3	508	c.262C>A	c.(262-264)Cag>Aag	p.Q88K	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.Q88K|FAR2_ENST00000547116.1_5'UTR	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	88					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						AGATCTCAATCAGAATGACTT	0.383																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(262-264)Cag>Aag		fatty acyl CoA reductase 2							145	140	142					12																	29446305		2203	4300	6503	SO:0001583	missense	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29446305C>A	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.262C>A	12.37:g.29446305C>A	ENSP00000443291:p.Gln88Lys					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.Q88K|FAR2_ENST00000547116.1_5'UTR	p.Q88K	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			3	530	+			88					F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	c.262C>A	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670175	0.47677	.	.	ENSG00000064763	ENST00000536681;ENST00000182377	T;T	0.41065	1.01;1.01	5.43	4.45	0.53987	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.170663	0.53938	D	0.000053	T	0.28566	0.0707	N	0.21373	0.66	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.06303	-1.0834	10	0.15952	T	0.53	-25.1913	14.4758	0.67546	0.1571:0.8429:0.0:0.0	.	88	Q96K12	FACR2_HUMAN	K	88	ENSP00000443291:Q88K;ENSP00000182377:Q88K	ENSP00000182377:Q88K	Q	+	1	0	FAR2	29337572	0.999000	0.42202	0.362000	0.25862	0.981000	0.71138	4.144000	0.58057	2.547000	0.85894	0.655000	0.94253	CAG		0.383	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		10	569	1	0	1.49906e-05	1.49906e-05	0.00640621	10	569					A	29446305	C	A	29446305	3	1	90	1	0	0	0	0	1	0	0	0	5700	827	29	3	268	3	FAR2	12	29446305	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	4048021	29446305	104405590	74	33657											
MBD6	114785	broad.mit.edu	37	chr12	57919786	57919787	+	Frame_Shift_Ins	INS	-	-	C													gcactttacagggccgaaggINSccccgtgcccaggcaccctc							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:57919786_57919787insC	ENST00000355673.3	+	6	1391_1392	c.1035_1036insC	c.(1036-1038)cccfs	p.P346fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.P346fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	346	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGGGCCGAAGGCCCCGTGCCCA	0.639																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1033-1038)agcccgfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919786_57919787insC	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1039dupC	12.37:g.57919790_57919790dupC	ENSP00000347896:p.Pro346fs					MBD6_ENST00000431731.2_Frame_Shift_Ins_p.SP345fs	p.SP345fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1391_1392	+			345			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Ins	INS	ENST00000355673.3	37	c.1035_1036insC	CCDS8944.1																																																																																				0.639	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			11	209						11	209	---	---	---	---	C	57919787	-	C	57919786	7	5	90	1	0	1	1	0	0	0	0	0	9389	1194	42	0	1049	0	MBD6	12	57919786	Frame_Shift_Ins	INS	-	TCGA-IB-A7LX-01A-12D-A36O-08	28473481	57919786	75932109	75	33658											
YEATS4	8089	broad.mit.edu	37	chr12	69759611	69759611	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattactgaaacaggatggGgtgaattcgaaataatcatc	9	5	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:69759611G>T	ENST00000247843.2	+	4	550	c.280G>T	c.(280-282)Ggt>Tgt	p.G94C	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	94	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|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 matrix (GO:0016363)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding transcription factor activity (GO:0003700)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AACAGGATGGGGTGAATTCGA	0.274																																						ENST00000247843.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5						c.(280-282)Ggt>Tgt		YEATS domain containing 4							75	79	78					12																	69759611		2203	4292	6495	SO:0001583	missense	8089				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton	g.chr12:69759611G>T	AJ245746	CCDS8990.1, CCDS73495.1	12q13-q15	2008-02-05				ENSG00000127337			24859	protein-coding gene	gene with protein product		602116				9302258, 11903063	Standard	XM_005269163		Approved	NuBI-1, GAS41, YAF9	uc001sux.3	O95619	OTTHUMG00000169358	ENST00000247843.2:c.280G>T	12.37:g.69759611G>T	ENSP00000247843:p.Gly94Cys					YEATS4_ENST00000548020.1_Intron	p.G94C	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		4	550	+	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		94			YEATS.		Q9NQD0	Missense_Mutation	SNP	ENST00000247843.2	37	c.280G>T	CCDS8990.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955700	0.92726	.	.	ENSG00000127337	ENST00000247843;ENST00000549685;ENST00000552955	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90882	0.7135	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93595	0.6925	8	.	.	.	-13.6897	20.0429	0.97598	0.0:0.0:1.0:0.0	.	94	O95619	YETS4_HUMAN	C	94;36;135	.	.	G	+	1	0	YEATS4	68045878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.146000	0.94640	2.812000	0.96745	0.555000	0.69702	GGT		0.274	YEATS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403663.1	NM_006530		10	983	1	0	5.50884e-06	5.50884e-06	0.00248927	10	983					T	69759611	G	T	69759611	3	4	90	1	0	0	0	0	1	0	0	0	17527	1232	43	3	294	3	YEATS4	12	69759611	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	11839825	69759611	64092284	76	33659											
RILPL2	196383	broad.mit.edu	37	chr12	123907604	123907604	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacttacagcttttttatgaTtgtcttctcctccttgttcc	4	12	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr12:123907604T>A	ENST00000280571.8	-	3	888	c.592A>T	c.(592-594)Atc>Ttc	p.I198F		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	198					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)		TTTTTTATGATTGTCTTCTCC	0.507																																						ENST00000280571.8																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(592-594)Atc>Ttc		Rab interacting lysosomal protein-like 2							192	172	179					12																	123907604		2203	4300	6503	SO:0001583	missense	196383					cytosol|plasma membrane	identical protein binding	g.chr12:123907604T>A	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.592A>T	12.37:g.123907604T>A	ENSP00000280571:p.Ile198Phe						p.I198F	NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)	3	888	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		198						Missense_Mutation	SNP	ENST00000280571.8	37	c.592A>T	CCDS9248.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342477	0.41498	.	.	ENSG00000150977	ENST00000280571	T	0.45668	0.89	5.0	3.85	0.44370	.	0.229969	0.44688	D	0.000439	T	0.32224	0.0822	L	0.29908	0.895	0.38433	D	0.946505	P	0.49961	0.93	P	0.44860	0.462	T	0.14392	-1.0474	10	0.48119	T	0.1	.	8.3232	0.32140	0.0:0.0913:0.0:0.9087	.	198	Q969X0	RIPL2_HUMAN	F	198	ENSP00000280571:I198F	ENSP00000280571:I198F	I	-	1	0	RILPL2	122473557	0.981000	0.34729	0.610000	0.28997	0.063000	0.16089	1.962000	0.40442	0.858000	0.35431	0.533000	0.62120	ATC		0.507	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145058		6	321	0	0	0	2.17888e-05	0	6	321					A	123907604	T	A	123907604	3	1	90	1	0	0	0	0	1	0	0	0	13412	1493	52	5	51	5	RILPL2	12	123907604	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	54147993	123907604	9944291	77	33660											
ESD	2098	broad.mit.edu	37	chr13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-													cccaaatatccactaaaggcTtttttgccccagggacagag							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102	103	102					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			10	963						10	963	---	---	---	---	-	47354112	T	-	47354112	7	5	90	1	0	1	0	1	0	0	0	0	5268	1606	56	0	302	0	ESD	13	47354112	Frame_Shift_Del	DEL	T	TCGA-IB-A7LX-01A-12D-A36O-08		47354112	67815766	78	33661											
PCDH17	27253	broad.mit.edu	37	chr13	58298909	58298909	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatgttgagactgagacttaCgaaactgtgaatcccactgg	10	8	0	3	rs138830034	byFrequency	TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:58298909C>T	ENST00000377918.3	+	4	2987	c.2961C>T	c.(2959-2961)taC>taT	p.Y987Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	987					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)		CTGAGACTTACGAAACTGTGA	0.413																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2959-2961)taC>taT		protocadherin 17		C		0,4406		0,0,2203	107	103	104		2961	-0.3	1	13	dbSNP_134	104	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	PCDH17	NM_001040429.2		0,7,6496	TT,TC,CC		0.0814,0.0,0.0538		987/1160	58298909	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58298909C>T	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.2961C>T	13.37:g.58298909C>T							p.Y987Y	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	2987	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	987					A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2961C>T	CCDS31986.1																																																																																				0.413	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		97	203	0	0	0	2.47226e-05	0	97	203					T	58298909	C	T	58298909	2	4	90	1	0	0	0	0	0	0	0	1	11554	547	19	1		1	PCDH17	13	58298909	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	10944797	58298909	56870969	79	33662											
KDELC1	79070	broad.mit.edu	37	chr13	103443745	103443745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttttccaaaggccagtctccCaaattaacaaagagctccac	5	13	1	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr13:103443745C>A	ENST00000376004.4	-	5	1044	c.708G>T	c.(706-708)ttG>ttT	p.L236F	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	236						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCCAGTCTCCCAAATTAACAA	0.398																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(706-708)ttG>ttT		KDEL (Lys-Asp-Glu-Leu) containing 1							154	171	165					13																	103443745		2203	4300	6503	SO:0001583	missense	79070					endoplasmic reticulum lumen		g.chr13:103443745C>A	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.708G>T	13.37:g.103443745C>A	ENSP00000365172:p.Leu236Phe					KDELC1_ENST00000460338.1_5'UTR	p.L236F	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1044	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		236					Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	c.708G>T	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667106	0.67814	.	.	ENSG00000134901	ENST00000376004	T	0.25085	1.82	5.91	1.54	0.23209	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.82923	2.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.45071	-0.9286	10	0.72032	D	0.01	.	7.9817	0.30188	0.1148:0.6657:0.0:0.2194	.	236	Q6UW63	KDEL1_HUMAN	F	236	ENSP00000365172:L236F	ENSP00000365172:L236F	L	-	3	2	KDELC1	102241746	0.998000	0.40836	0.999000	0.59377	0.980000	0.70556	0.660000	0.25009	0.341000	0.23771	-0.345000	0.07892	TTG		0.398	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			11	1078	1	0	1.08611e-07	3.07112e-06	5.20652e-05	11	1078					A	103443745	C	A	103443745	3	1	90	1	0	0	0	0	1	0	0	0	8147	593	21	3	824	3	KDELC1	13	103443745	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	45144836	103443745	11726133	80	33663											
TEP1	7011	broad.mit.edu	37	chr14	20841221	20841221	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacaagattagttccccagcTtgatttccagatactgccat	6	12	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:20841221T>C	ENST00000262715.5	-	48	6940	c.6900A>G	c.(6898-6900)caA>caG	p.Q2300Q	TEP1_ENST00000556935.1_Silent_p.Q2192Q|TEP1_ENST00000545983.1_Silent_p.Q638Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2300					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)		GTTCCCCAGCTTGATTTCCAG	0.522																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(6898-6900)caA>caG		telomerase-associated protein 1							77	77	77					14																	20841221		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20841221T>C		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.6900A>G	14.37:g.20841221T>C						TEP1_ENST00000556935.1_Silent_p.Q2192Q|TEP1_ENST00000545983.1_Silent_p.Q638Q	p.Q2300Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	48	6940	-	all_cancers(95;0.00123)	all_lung(585;0.235)	2300					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.6900A>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	8.134	0.783739	0.16189	.	.	ENSG00000129566	ENST00000553984	.	.	.	5.77	0.76	0.18442	.	.	.	.	.	T	0.32041	0.0816	.	.	.	0.21719	N	0.999572	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	-0.0235	7.2173	0.25967	0.0:0.4669:0.0:0.5331	.	.	.	.	G	7	.	.	S	-	1	0	TEP1	19911061	0.053000	0.20554	0.110000	0.21437	0.973000	0.67179	0.124000	0.15728	0.135000	0.18707	0.533000	0.62120	AGC		0.522	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		90	175	0	0	0	2.47226e-05	0	90	175					C	20841221	T	C	20841221	2	2	90	1	0	0	0	0	0	0	0	1	15811	1606	56	4		4	TEP1	14	20841221	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08		20841221	86508319	81	33664											
AKAP6	9472	broad.mit.edu	37	chr14	33291486	33291486	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatgaaacagtcacaaagCgaaaaagcgcatgtggagga	11	6	1	1	rs371708448		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:33291486C>T	ENST00000280979.4	+	13	4637	c.4467C>T	c.(4465-4467)agC>agT	p.S1489S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1489					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)		AGTCACAAAGCGAAAAAGCGC	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20207	0.0		0.0	False		,,,				2504	0.0				Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(4465-4467)agC>agT		A kinase (PRKA) anchor protein 6		C		1,4405	2.1+/-5.4	0,1,2202	73	70	71		4467	4.6	1	14		71	0,8600		0,0,4300	no	coding-synonymous	AKAP6	NM_004274.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1489/2320	33291486	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291486C>T	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.4467C>T	14.37:g.33291486C>T						AKAP6_ENST00000557272.1_Intron	p.S1489S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4637	+	Breast(36;0.0388)|Prostate(35;0.15)		1489					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.4467C>T	CCDS9644.1																																																																																				0.348	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		86	190	0	0	0	2.47226e-05	0	86	190					T	33291486	C	T	33291486	2	4	90	1	0	0	0	0	0	0	0	1	455	767	27	1		1	AKAP6	14	33291486	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	12450265	33291486	74058054	82	33665											
BATF	10538	broad.mit.edu	37	chr14	75989073	75989073	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttcagccgctctccTccccctggcaaacaggtaga	8	17	2	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr14:75989073T>G	ENST00000286639.6	+	1	306	c.48T>G	c.(46-48)ccT>ccG	p.P16P	BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	16					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|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)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCTCTCCTCCCCCTGGCA	0.587																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(46-48)ccT>ccG		basic leucine zipper transcription factor, ATF-like							82	75	77					14																	75989073		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:75989073T>G	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.48T>G	14.37:g.75989073T>G						BATF_ENST00000555795.1_Intron|BATF_ENST00000555504.1_Silent_p.P16P	p.P16P	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	1	306	+			16						Silent	SNP	ENST00000286639.6	37	c.48T>G	CCDS9843.1																																																																																				0.587	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		78	165	0	0	0	2.47226e-05	0	78	165					G	75989073	T	G	75989073	2	3	90	1	0	0	0	0	0	0	0	1	1326	1538	54	4		4	BATF	14	75989073	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	42697587	75989073	31360467	83	33666											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84683327	84683327	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	taatataacttggttgaagaGaggaggatctctgagtggca	13	4	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:84683327G>C	ENST00000286744.5	+	24	4231	c.4007G>C	c.(4006-4008)aGa>aCa	p.R1336T	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1336	Ig-like C2-type 3.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1336I(1)		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)			TGGTTGAAGAGAGGAGGATCT	0.428																																						ENST00000286744.5																			1	Substitution - Missense(1)	p.R1336I(1)	endometrium(1)	NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4006-4008)aGa>aCa		ADAMTS-like 3							217	190	199					15																	84683327		2203	4299	6502	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84683327G>C	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.4007G>C	15.37:g.84683327G>C	ENSP00000286744:p.Arg1336Thr					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1336T	p.R1336T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		24	4231	+			1336			Ig-like C2-type 3.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.4007G>C	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420685	0.25639	.	.	ENSG00000156218	ENST00000286744	T	0.27402	1.67	4.7	1.68	0.24146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739929	0.11659	N	0.541996	T	0.15696	0.0378	N	0.17082	0.46	0.26572	N	0.973534	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.007	T	0.31280	-0.9949	10	0.22109	T	0.4	.	4.2489	0.10684	0.4199:0.1664:0.4137:0.0	.	1336;1336	P82987-2;P82987	.;ATL3_HUMAN	T	1336	ENSP00000286744:R1336T	ENSP00000286744:R1336T	R	+	2	0	ADAMTSL3	82474331	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	0.900000	0.28431	0.048000	0.15891	-0.266000	0.10368	AGA		0.428	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		35	591	0	0	0	2.86225e-05	0	35	591					C	84683327	G	C	84683327	3	2	90	1	0	0	0	0	1	0	0	0	276	942	33	5	4097	5	ADAMTSL3	15	84683327	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08		84683327	17848065	84	33667											
PRC1	9055	broad.mit.edu	37	chr15	91527307	91527308	+	Frame_Shift_Ins	INS	-	-	T													agctctttctgacagacggaINStatgcttttgatgagtcttt							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:91527307_91527308insT	ENST00000361188.5	-	3	1418_1419	c.207_208insA	c.(205-210)atatccfs	p.S70fs	PRC1_ENST00000361919.3_Frame_Shift_Ins_p.S70fs|PRC1_ENST00000394249.3_Frame_Shift_Ins_p.S70fs|PRC1_ENST00000556129.1_5'UTR|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Intron					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)					TGACAGACGGATATGCTTTTGA	0.49																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(205-210)atccgtfs		protein regulator of cytokinesis 1																																				SO:0001589	frameshift_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91527307_91527308insT	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.208dupA	15.37:g.91527308_91527308dupT	ENSP00000354679:p.Ser70fs					PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000394249.3_Frame_Shift_Ins_p.R70fs|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Frame_Shift_Ins_p.R70fs|PRC1_ENST00000442656.2_Intron	p.R70fs			O43663	PRC1_HUMAN			3	1418_1419	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		70			Dimerization.			Frame_Shift_Ins	INS	ENST00000361188.5	37	c.207_208insA	CCDS45352.1																																																																																				0.49	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		462	779						462	779	---	---	---	---	T	91527308	-	T	91527307	7	5	90	1	0	1	1	0	0	0	0	0	12493	333	12	0	1706	0	PRC1	15	91527307	Frame_Shift_Ins	INS	-	TCGA-IB-A7LX-01A-12D-A36O-08	6843980	91527307	11004085	85	33668											
TM2D3	80213	broad.mit.edu	37	chr15	102191940	102191940	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgcgtgttgggcccGgatcctttattgactgagcc	13	9	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr15:102191940G>T	ENST00000333202.3	-	2	133	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000561373.1_5'Flank|TM2D3_ENST00000347970.3_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	43						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	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)			TGTTGGGCCCGGATCCTTTAT	0.423																																						ENST00000333202.3																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(127-129)cCg>cAg		TM2 domain containing 3							161	167	165					15																	102191940		2203	4300	6503	SO:0001583	missense	80213					integral to membrane		g.chr15:102191940G>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.128C>A	15.37:g.102191940G>T	ENSP00000330433:p.Pro43Gln					TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Missense_Mutation_p.P43Q|TM2D3_ENST00000347970.3_Intron	p.P43Q	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	133	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		43					B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	ENST00000333202.3	37	c.128C>A	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762555	0.31228	.	.	ENSG00000184277	ENST00000333202	T	0.73152	-0.72	4.28	3.35	0.38373	.	0.429980	0.24318	N	0.039579	T	0.70159	0.3192	L	0.44542	1.39	0.80722	D	1	D;B	0.56746	0.977;0.017	P;B	0.57548	0.823;0.003	T	0.64433	-0.6409	10	0.12766	T	0.61	-20.9337	10.7681	0.46305	0.0:0.1937:0.8063:0.0	.	43;43	B4DKG4;Q9BRN9	.;TM2D3_HUMAN	Q	43	ENSP00000330433:P43Q	ENSP00000330433:P43Q	P	-	2	0	TM2D3	100009463	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	2.657000	0.46724	1.077000	0.40990	0.557000	0.71058	CCG		0.423	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		10	1068	1	0	2.0095e-06	2.0095e-06	0.000946834	10	1068					T	102191940	G	T	102191940	3	4	90	1	0	0	0	0	1	0	0	0	16017	1116	39	3	635	3	TM2D3	15	102191940	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	10664633	102191940	339452	86	33669											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		11	1405	0	0	0	2.0095e-06	0	11	1405					T	3293588	C	T	3293588	2	4	90	1	0	0	0	0	0	0	0	1	9500	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		3293588	87061165	87	33670											
TAOK2	9344	broad.mit.edu	37	chr16	29994531	29994533	+	In_Frame_Del	DEL	GAG	GAG	-													atgcctcagacaacgaggaaGaggaggaggaggaggaggaa					rs368747234		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:29994531_29994533delGAG	ENST00000308893.4	+	12	2181_2183	c.1138_1140delGAG	c.(1138-1140)gagdel	p.E392del	TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	392	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1138-1140)del		TAO kinase 2																																				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994531_29994533delGAG	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.1138_1140delGAG	16.37:g.29994540_29994542delGAG	ENSP00000310094:p.Glu392del					TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del	p.E392del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2181_2183	+			392			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.1138_1140delGAG	CCDS10663.1																																																																																				0.611	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		10	129						10	129	---	---	---	---	-	29994533	GAG	-	29994531	7	5	90	1	0	1	0	1	0	0	0	0	15600	943	33	0	1180	0	TAOK2	16	29994531	In_Frame_Del	DEL	GAG	TCGA-IB-A7LX-01A-12D-A36O-08	26700943	29994531	60360222	88	33671											
CDH8	1006	broad.mit.edu	37	chr16	61935344	61935344	+	Frame_Shift_Del	DEL	T	T	-													acctgataggatatacttgaTttttttgctcccaggatcca							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:61935344delT	ENST00000577390.1	-	3	1240	c.286delA	c.(286-288)atcfs	p.I96fs	CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|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)		ATATACTTGATTTTTTTGCTC	0.373																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(286-288)tcfs		cadherin 8, type 2							80	76	78					16																	61935344		2203	4300	6503	SO:0001589	frameshift_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61935344delT	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.286delA	16.37:g.61935344delT	ENSP00000462701:p.Ile96fs					CDH8_ENST00000299345.6_Frame_Shift_Del_p.I96fs|CDH8_ENST00000584337.1_Frame_Shift_Del_p.I96fs|CDH8_ENST00000577730.1_Frame_Shift_Del_p.I96fs	p.I96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	3	1240	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	96			Cadherin 1.		B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Del	DEL	ENST00000577390.1	37	c.286delA	CCDS10802.1																																																																																				0.373	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		7	717						7	717	---	---	---	---	-	61935344	T	-	61935344	7	5	90	1	0	1	0	1	0	0	0	0	3125	1493	52	0	2153	0	CDH8	16	61935344	Frame_Shift_Del	DEL	T	TCGA-IB-A7LX-01A-12D-A36O-08	31940813	61935344	28419409	89	33672											
CMTM1	113540	broad.mit.edu	37	chr16	66603929	66603930	+	Frame_Shift_Ins	INS	-	-	T													tctggaaatctgcattgtcgINSttttttttattctaatatat							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:66603929_66603930insT	ENST00000457188.2	+	2	293_294	c.172_173insT	c.(172-174)gttfs	p.V58fs	CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.V58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000379500.2_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000332695.7_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(523-525)tttfs		CKLF-like MARVEL transmembrane domain containing 1																																				SO:0001589	frameshift_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603929_66603930insT	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.180dupT	16.37:g.66603937_66603937dupT	ENSP00000405729:p.Val58fs					CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron	p.F175fs	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	590_591	+		Ovarian(137;0.0563)	58					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Frame_Shift_Ins	INS	ENST00000457188.2	37	c.523_524insT	CCDS45503.1																																																																																				0.347	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		8	824						8	824	---	---	---	---	T	66603930	-	T	66603929	7	5	90	1	0	1	1	0	0	0	0	0	3591	1145	40	0	529	0	CMTM1	16	66603929	Frame_Shift_Ins	INS	-	TCGA-IB-A7LX-01A-12D-A36O-08	4668585	66603929	23750824	90	33673											
DHX38	9785	broad.mit.edu	37	chr16	72130794	72130794	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagagttttgggaacgcagtCggcagagagagcgggagcgg	19	6	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr16:72130794C>A	ENST00000268482.3	+	3	906	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	TXNL4B_ENST00000426362.2_5'Flank|DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	133					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)				GGAACGCAGTCGGCAGAGAGA	0.542																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(397-399)Cgg>Agg		DEAH (Asp-Glu-Ala-His) box polypeptide 38							172	173	172					16																	72130794		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72130794C>A	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.397C>A	16.37:g.72130794C>A						DHX38_ENST00000536867.1_Intron	p.R133R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			3	906	+		Ovarian(137;0.125)	133					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.397C>A	CCDS10907.1																																																																																				0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		18	831	1	0	8.00594e-06	8.00594e-06	0.00358822	18	831					A	72130794	C	A	72130794	2	1	90	1	0	0	0	0	0	0	0	1	4527	875	31	3		3	DHX38	16	72130794	Silent	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	5526865	72130794	18223959	91	33674											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		9	417	0	0	0	1.58986e-06	0	9	417					C	16285560	T	C	16285560	2	2	90	1	0	0	0	0	0	0	0	1	16895	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08		16285560	64909650	92	33675											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					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)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	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.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		10	193						10	193	---	---	---	---	-	34071996	TCC	-	34071994	7	5	90	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-IB-A7LX-01A-12D-A36O-08	17786434	34071994	47123216	93	33676											
MED1	5469	broad.mit.edu	37	chr17	37565824	37565824	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccactttggctgctttcatCaaaatattcttctccaaaac	3	13	4	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:37565824C>A	ENST00000300651.6	-	17	2873	c.2650G>T	c.(2650-2652)Gat>Tat	p.D884Y	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)		CTGCTTTCATCAAAATATTCT	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2650-2652)Gat>Tat		mediator complex subunit 1							108	110	109					17																	37565824		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565824C>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2650G>T	17.37:g.37565824C>A	ENSP00000300651:p.Asp884Tyr	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.D884Y	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2873	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	884			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2650G>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316261	0.60524	.	.	ENSG00000125686	ENST00000300651	T	0.39997	1.05	6.17	6.17	0.99709	.	.	.	.	.	T	0.53626	0.1808	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.54423	-0.8296	9	0.72032	D	0.01	-11.7191	20.8794	0.99867	0.0:1.0:0.0:0.0	.	884	Q15648	MED1_HUMAN	Y	884	ENSP00000300651:D884Y	ENSP00000300651:D884Y	D	-	1	0	MED1	34819350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.584000	0.82572	2.941000	0.99782	0.655000	0.94253	GAT		0.398	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		9	649	1	0	2.17888e-05	2.17888e-05	0.00896397	9	649					A	37565824	C	A	37565824	3	1	90	1	0	0	0	0	1	0	0	0	9466	826	29	3	2099	3	MED1	17	37565824	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	3493830	37565824	43629386	94	33677											
KRT28	162605	broad.mit.edu	37	chr17	38949428	38949428	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttagatgaattcccagggcTtcctgatccaaagccctttg	8	11	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr17:38949428T>A	ENST00000306658.7	-	7	1296	c.1231A>T	c.(1231-1233)Agc>Tgc	p.S411C		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCCCAGGGCTTCCTGATCCA	0.313																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(1231-1233)Agc>Tgc		keratin 28							26	26	26					17																	38949428		2200	4300	6500	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38949428T>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1231A>T	17.37:g.38949428T>A	ENSP00000305263:p.Ser411Cys						p.S411C	NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			7	1296	-		Breast(137;0.000301)	411			Tail.			Missense_Mutation	SNP	ENST00000306658.7	37	c.1231A>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471242	0.43942	.	.	ENSG00000173908	ENST00000306658	D	0.83419	-1.72	5.35	0.343	0.16001	.	0.768911	0.12060	N	0.503255	T	0.76586	0.4008	L	0.38175	1.15	0.22081	N	0.999376	P	0.35192	0.489	B	0.41299	0.353	T	0.66968	-0.5789	10	0.62326	D	0.03	.	7.4993	0.27509	0.0:0.4287:0.0:0.5713	.	411	Q7Z3Y7	K1C28_HUMAN	C	411	ENSP00000305263:S411C	ENSP00000305263:S411C	S	-	1	0	KRT28	36202954	0.023000	0.18921	0.940000	0.37924	0.992000	0.81027	-0.298000	0.08265	0.108000	0.17862	0.533000	0.62120	AGC		0.313	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		55	294	0	0	0	2.47226e-05	0	55	294					A	38949428	T	A	38949428	3	1	90	1	0	0	0	0	1	0	0	0	8495	1609	56	5	171	5	KRT28	17	38949428	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	1383604	38949428	42245782	95	33678											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	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)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	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_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		7	100						7	100	---	---	---	---	-	1578374	CTC	-	1578372	7	5	90	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-IB-A7LX-01A-12D-A36O-08		1578372	57550611	96	33679											
ANKRD24	170961	broad.mit.edu	37	chr19	4219594	4219594	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgggccacaggtgcagCgtgaggccctgttcatgaag	16	10	1	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:4219594C>T	ENST00000600132.1	+	19	3286	c.3010C>T	c.(3010-3012)Cgt>Tgt	p.R1004C	ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C|ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1004										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)		ACAGGTGCAGCGTGAGGCCCT	0.572																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(3010-3012)Cgt>Tgt		ankyrin repeat domain 24							68	77	74					19																	4219594		2199	4298	6497	SO:0001583	missense	170961							g.chr19:4219594C>T	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.3010C>T	19.37:g.4219594C>T	ENSP00000471252:p.Arg1004Cys					ANKRD24_ENST00000262970.5_Missense_Mutation_p.R1094C|ANKRD24_ENST00000318934.4_Missense_Mutation_p.R1004C	p.R1004C	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	19	3286	+			1004					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.3010C>T	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.854693	0.51376	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.37058	1.24;1.22	3.79	-0.142	0.13448	.	.	.	.	.	T	0.41213	0.1149	L	0.27053	0.805	0.41774	D	0.989783	D	0.89917	1.0	D	0.79784	0.993	T	0.23511	-1.0186	9	0.54805	T	0.06	.	9.5198	0.39129	0.5842:0.4158:0.0:0.0	.	1004	Q8TF21	ANR24_HUMAN	C	1004;1094	ENSP00000321731:R1004C;ENSP00000262970:R1094C	ENSP00000262970:R1094C	R	+	1	0	ANKRD24	4170594	1.000000	0.71417	0.991000	0.47740	0.664000	0.39144	0.829000	0.27449	-0.035000	0.13691	0.313000	0.20887	CGT		0.572	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		115	531	0	0	0	2.47226e-05	0	115	531					T	4219594	C	T	4219594	3	4	90	1	0	0	0	0	1	0	0	0	653	768	27	1	3080	1	ANKRD24	19	4219594	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08	2641222	4219594	54909389	97	33680											
CRTC1	23373	broad.mit.edu	37	chr19	18887992	18887993	+	Frame_Shift_Ins	INS	-	-	C													tcccccagtgacaggagagtINSccccccccagcctctctaaa							TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:18887992_18887993insC	ENST00000321949.8	+	14	1731_1732	c.1705_1706insC	c.(1705-1707)tccfs	p.S569fs	CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.S528fs|CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.S327fs|CRTC1_ENST00000338797.6_Frame_Shift_Ins_p.S585fs	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.S572fs*6(2)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GACAGGAGAGTCCCCCCCCAGC	0.639																																						ENST00000338797.6																		CRTC1/MAML2(516)	2	Deletion - Frameshift(2)	p.S572fs*6(2)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1753-1755)cccfs		CREB regulated transcription coactivator 1																																				SO:0001589	frameshift_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18887992_18887993insC	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.1713dupC	19.37:g.18888000_18888000dupC	ENSP00000323332:p.Ser569fs					CRTC1_ENST00000321949.8_Frame_Shift_Ins_p.P569fs|CRTC1_ENST00000601916.1_Frame_Shift_Ins_p.P327fs|CRTC1_ENST00000594658.1_Frame_Shift_Ins_p.P528fs	p.P585fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			15	1778_1779	+			569						Frame_Shift_Ins	INS	ENST00000321949.8	37	c.1753_1754insC	CCDS32963.1																																																																																				0.639	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		7	263						7	263	---	---	---	---	C	18887993	-	C	18887992	7	5	90	1	0	1	1	0	0	0	0	0	3908	1667	58	0	1811	0	CRTC1	19	18887992	Frame_Shift_Ins	INS	-	TCGA-IB-A7LX-01A-12D-A36O-08	14668398	18887992	40240991	98	33681											
ZNF90	7643	broad.mit.edu	37	chr19	20215121	20215121	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctggacactgcacagcAgaatttatatagggatgtga	11	7	0	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:20215121A>C	ENST00000418063.2	+	2	189	c.77A>C	c.(76-78)cAg>cCg	p.Q26P	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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						ACTGCACAGCAGAATTTATAT	0.413																																						ENST00000418063.2																			0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(76-78)cAg>cCg		zinc finger protein 90																																				SO:0001583	missense	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20215121A>C	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.77A>C	19.37:g.20215121A>C	ENSP00000410466:p.Gln26Pro					ZNF90_ENST00000474284.1_Intron	p.Q26P	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN			2	189	+			26			KRAB.		B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.77A>C	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806870	0.16467	.	.	ENSG00000213988	ENST00000418063	T	0.01854	4.6	1.11	-0.486	0.12064	Krueppel-associated box (4);	.	.	.	.	T	0.05044	0.0135	M	0.87900	2.915	0.09310	N	1	B	0.24576	0.106	B	0.28385	0.089	T	0.26087	-1.0113	9	0.87932	D	0	.	5.4433	0.16521	0.6311:0.0:0.3689:0.0	.	26	Q03938	ZNF90_HUMAN	P	26	ENSP00000410466:Q26P	ENSP00000410466:Q26P	Q	+	2	0	ZNF90	20076121	0.004000	0.15560	0.262000	0.24481	0.258000	0.26162	-0.724000	0.04947	-1.315000	0.02297	-1.160000	0.01791	CAG		0.413	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138		22	575	0	0	0	3.83957e-06	0	22	575					C	20215121	A	C	20215121	3	2	90	1	0	0	0	0	1	0	0	0	18252	188	7	4	83	4	ZNF90	19	20215121	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	1327129	20215121	38913862	99	33682											
ZNF99	7652	broad.mit.edu	37	chr19	22940990	22940990	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taagatgtgaagattgcttaAaagctttgccacattcttca	7	7	2	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:22940990A>C	ENST00000596209.1	-	4	1811	c.1721T>G	c.(1720-1722)tTt>tGt	p.F574C	ZNF99_ENST00000397104.3_Missense_Mutation_p.F483C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	574					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				AGATTGCTTAAAAGCTTTGCC	0.368																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1447-1449)tTt>tGt		zinc finger protein 99							50	54	52					19																	22940990		2094	4233	6327	SO:0001583	missense	7652							g.chr19:22940990A>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1721T>G	19.37:g.22940990A>C	ENSP00000472969:p.Phe574Cys					ZNF99_ENST00000596209.1_Missense_Mutation_p.F574C	p.F483C							5	1447	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1448T>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	10.29	1.308831	0.23821	.	.	ENSG00000213973	ENST00000397104	T	0.45668	0.89	1.44	0.101	0.14517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63570	0.2522	M	0.88377	2.95	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51348	-0.8717	9	0.66056	D	0.02	.	5.428	0.16438	0.7506:0.0:0.0:0.2493	.	483	A8MXY4	ZNF99_HUMAN	C	483	ENSP00000380293:F483C	ENSP00000380293:F483C	F	-	2	0	ZNF99	22732830	0.978000	0.34361	0.001000	0.08648	0.011000	0.07611	4.718000	0.61930	-0.219000	0.10003	0.163000	0.16589	TTT		0.368	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		113	177	0	0	0	2.47226e-05	0	113	177					C	22940990	A	C	22940990	3	2	90	1	0	0	0	0	1	0	0	0	18257	14	1	4	1676	4	ZNF99	19	22940990	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	2725869	22940990	36187993	100	33683											
ZNF254	9534	broad.mit.edu	37	chr19	24310056	24310056	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggttttaatcgatcTtcaaatcttactacacataa	5	8	3	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:24310056T>C	ENST00000357002.4	+	4	1369	c.1254T>C	c.(1252-1254)tcT>tcC	p.S418S	ZNF254_ENST00000342944.6_Silent_p.S333S	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	418					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)				TTAATCGATCTTCAAATCTTA	0.348																																						ENST00000357002.4																			0											c.(1252-1254)tcT>tcC		zinc finger protein 254							40	43	42					19																	24310056		2202	4300	6502	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310056T>C	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.1254T>C	19.37:g.24310056T>C						ZNF254_ENST00000342944.6_Silent_p.S333S	p.S418S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1369	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	418					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1254T>C	CCDS32983.1																																																																																				0.348	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		4	179	0	0	0	1.23904e-05	0	4	179					C	24310056	T	C	24310056	2	2	90	1	0	0	0	0	0	0	0	1	17851	1596	56	4		4	ZNF254	19	24310056	Silent	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	1369066	24310056	34818927	101	33684											
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	7	9	2	2	rs554981870		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	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	498					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)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60	62	61					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	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.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	373	0	0	0	1.23904e-05	0	5	373					G	24310294	T	G	24310294	3	3	90	1	0	0	0	0	1	0	0	0	17851	1435	50	4	1506	4	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	238	24310294	34818689	102	33685											
FCGBP	8857	broad.mit.edu	37	chr19	40433627	40433627	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccacggggctactagctgtGacctttgaccccgagagatc	12	13	0	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:40433627G>A	ENST00000221347.6	-	2	649	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	214	IgGFc-binding.					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)			TACTAGCTGTGACCTTTGACC	0.562																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(640-642)gtC>gtT		Fc fragment of IgG binding protein							73	71	72					19																	40433627		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433627G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.642C>T	19.37:g.40433627G>A							p.V214V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	649	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		214			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.642C>T	CCDS12546.1																																																																																				0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	251	0	0	0	5.3912e-06	0	18	251					A	40433627	G	A	40433627	2	1	90	1	0	0	0	0	0	0	0	1	5803	1277	45	2		2	FCGBP	19	40433627	Silent	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	16123333	40433627	18695356	103	33686											
BLOC1S3	388552	broad.mit.edu	37	chr19	45682658	45682658	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gcgctctgcgtcctcgtcggAggaggaggagctgtacctgg	17	11	1	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:45682658A>C	ENST00000433642.2	+	2	200	c.104A>C	c.(103-105)gAg>gCg	p.E35A	TRAPPC6A_ENST00000588062.1_5'Flank|BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A|TRAPPC6A_ENST00000006275.4_5'Flank|AC005779.2_ENST00000593083.1_5'Flank|TRAPPC6A_ENST00000585934.1_5'Flank|TRAPPC6A_ENST00000592647.1_5'Flank	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 3	35					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to melanosome transport (GO:0035646)|eye development (GO:0001654)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of natural killer cell activation (GO:0032816)|post-Golgi vesicle-mediated transport (GO:0006892)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|transport vesicle (GO:0030133)				ovary(1)|skin(1)	2		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TCCTCGTCGGAGGAGGAGGAG	0.761									Hermansky-Pudlak syndrome																													ENST00000433642.2																			0				ovary(1)|skin(1)	2						c.(103-105)gAg>gCg		biogenesis of lysosomal organelles complex-1, subunit 3							9	10	10					19																	45682658		2158	4240	6398	SO:0001583	missense	388552	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	cellular membrane organization|eye development|melanosome organization|platelet activation|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex	identical protein binding	g.chr19:45682658A>C	AY531266	CCDS12656.1	19q13.32	2012-08-01	2008-08-11			ENSG00000189114		"Biogenesis of lysosomal organelles complex-1 subunits"	20914	protein-coding gene	gene with protein product	"BLOC-1 subunit 3", "Biogenesis of Lysosome-related Organelles complex-1 Subunit 3", "Hermansky-Pudlak syndrome 8"	609762				15102850	Standard	NM_212550		Approved	BLOS3, HPS8	uc002pax.4	Q6QNY0		ENST00000433642.2:c.104A>C	19.37:g.45682658A>C	ENSP00000393840:p.Glu35Ala					BLOC1S3_ENST00000587722.1_Missense_Mutation_p.E35A	p.E35A	NM_212550.3	NP_997715.1	Q6QNY0	BL1S3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)	2	200	+		Ovarian(192;0.0728)|all_neural(266;0.112)	35					B2RXB8	Missense_Mutation	SNP	ENST00000433642.2	37	c.104A>C	CCDS12656.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381951	0.42207	.	.	ENSG00000189114	ENST00000433642	.	.	.	2.93	1.77	0.24775	.	0.624228	0.12947	N	0.426136	T	0.16642	0.0400	N	0.08118	0	0.26487	N	0.975019	B	0.28128	0.201	B	0.20767	0.031	T	0.13980	-1.0489	9	0.62326	D	0.03	.	6.2471	0.20825	0.7472:0.2528:0.0:0.0	.	35	Q6QNY0	BL1S3_HUMAN	A	35	.	ENSP00000393840:E35A	E	+	2	0	BLOC1S3	50374498	0.697000	0.27767	0.994000	0.49952	0.982000	0.71751	0.657000	0.24963	1.121000	0.41925	0.374000	0.22700	GAG		0.761	BLOC1S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457559.1	NM_212550		18	23	0	0	0	5.3912e-06	0	18	23					C	45682658	A	C	45682658	3	2	90	1	0	0	0	0	1	0	0	0	1452	304	11	4	106	4	BLOC1S3	19	45682658	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08	5249031	45682658	13446325	104	33687											
ZNF28	7576	broad.mit.edu	37	chr19	53303242	53303242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggattataagcgatgatGtctgacggaaggtcttgcca	13	6	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:53303242G>A	ENST00000457749.2	-	4	1975	c.1856C>T	c.(1855-1857)aCa>aTa	p.T619I	ZNF28_ENST00000438150.2_Missense_Mutation_p.T566I|ZNF28_ENST00000360272.4_Missense_Mutation_p.T566I|ZNF28_ENST00000414252.2_Missense_Mutation_p.T566I	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)		AAGCGATGATGTCTGACGGAA	0.458																																						ENST00000438150.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1696-1698)aCa>aTa		zinc finger protein 28							247	218	228					19																	53303242		2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303242G>A	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.1856C>T	19.37:g.53303242G>A	ENSP00000397693:p.Thr619Ile					ZNF28_ENST00000414252.2_Missense_Mutation_p.T566I|ZNF28_ENST00000360272.4_Missense_Mutation_p.T566I|ZNF28_ENST00000457749.2_Missense_Mutation_p.T619I	p.T566I			P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	2	2590	-			619					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1697C>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	4.339	0.062262	0.08388	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.01034	5.42;5.42;5.42;5.42	1.94	-3.89	0.04193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00496	0.0016	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45071	-0.9286	9	0.23302	T	0.38	.	0.9218	0.01316	0.1737:0.2031:0.1653:0.4579	.	619	P17035	ZNF28_HUMAN	I	566;619;566;566	ENSP00000412143:T566I;ENSP00000397693:T619I;ENSP00000353410:T566I;ENSP00000444965:T566I	ENSP00000353410:T566I	T	-	2	0	ZNF28	57995054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.863000	0.01651	-1.310000	0.02312	-1.868000	0.00555	ACA		0.458	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		68	844	0	0	0	2.47226e-05	0	68	844					A	53303242	G	A	53303242	3	1	90	1	0	0	0	0	1	0	0	0	17866	1377	48	2	304	2	ZNF28	19	53303242	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	7620584	53303242	5825741	105	33688											
ZNF761	388561	broad.mit.edu	37	chr19	53959318	53959318	+	RNA	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	catagacttcatactggagaGaaagcttacaagtgtaatga	9	6	1	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:53959318G>A	ENST00000454407.1	+	0	2010							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATACTGGAGAGAAAGCTTACA	0.428																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							103	100	101					19																	53959318		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959318G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959318G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2010	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		14	408	0	0	0	1.49906e-05	0	14	408					A	53959318	G	A	53959318	1	1	90	0	1	0	0	0	0	0	0	0	18189	933	33	2		2	ZNF761	19	53959318	RNA	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	656076	53959318	5169665	106	33689											
ZNF606	80095	broad.mit.edu	37	chr19	58490276	58490276	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttatatggtttctctcccGtgtgagttctctgatgggca	11	8	2	2			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr19:58490276G>A	ENST00000341164.4	-	7	2392	c.1772C>T	c.(1771-1773)aCg>aTg	p.T591M	ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCTCTCCCGTGTGAGTTCT	0.418																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1771-1773)aCg>aTg		zinc finger protein 606							90	88	89					19																	58490276		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490276G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1772C>T	19.37:g.58490276G>A	ENSP00000343617:p.Thr591Met					ZNF606_ENST00000536132.1_Missense_Mutation_p.T501M	p.T591M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2392	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	591					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1772C>T	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647444	0.47258	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.26373	1.74;1.74	4.91	4.91	0.64330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.134588	0.34676	N	0.003775	T	0.53530	0.1802	M	0.79926	2.475	0.46416	D	0.999034	D	0.89917	1.0	D	0.68765	0.96	T	0.58973	-0.7541	10	0.87932	D	0	.	17.3812	0.87405	0.0:0.0:1.0:0.0	.	591	Q8WXB4	ZN606_HUMAN	M	591;501	ENSP00000343617:T591M;ENSP00000445624:T501M	ENSP00000343617:T591M	T	-	2	0	ZNF606	63182088	0.994000	0.37717	0.995000	0.50966	0.976000	0.68499	2.147000	0.42226	2.706000	0.92434	0.561000	0.74099	ACG		0.418	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		13	385	0	0	0	2.23348e-06	0	13	385					A	58490276	G	A	58490276	3	1	90	1	0	0	0	0	1	0	0	0	18085	1145	40	1	610	1	ZNF606	19	58490276	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	4530958	58490276	638707	107	33690											
ZGPAT	84619	broad.mit.edu	37	chr20	62365008	62365008	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgtggtggagggggAcggcatcctgcccccactgc	18	13	0	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr20:62365008A>G	ENST00000328969.5	+	4	915	c.788A>G	c.(787-789)gAc>gGc	p.D263G	LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000478385.1_3'UTR|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.T169A	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	263					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GTGGAGGGGGACGGCATCCTG	0.617																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(787-789)gAc>gGc		zinc finger, CCCH-type with G patch domain							135	130	132					20																	62365008		2203	4300	6503	SO:0001583	missense	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62365008A>G	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.788A>G	20.37:g.62365008A>G	ENSP00000332013:p.Asp263Gly					ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000490623.1_3'UTR	p.D263G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			4	915	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		263					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	37	c.788A>G	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.453037	0.84209	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.26373	1.81;1.81;1.76;1.81;1.74	5.65	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.43196	-0.9406	10	0.46703	T	0.11	-9.7755	10.2993	0.43642	0.9251:0.0:0.0749:0.0	.	263;263;263	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	263	ENSP00000391176:D263G;ENSP00000348242:D263G;ENSP00000349634:D263G;ENSP00000358984:D263G;ENSP00000332013:D263G	ENSP00000332013:D263G	D	+	2	0	ZGPAT	61835452	1.000000	0.71417	0.929000	0.37066	0.930000	0.56654	6.399000	0.73248	0.970000	0.38263	0.482000	0.46254	GAC		0.617	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		7	891	0	0	0	5.9392e-07	0	7	891					G	62365008	A	G	62365008	3	3	90	1	0	0	0	0	1	0	0	0	17727	275	10	4	798	4	ZGPAT	20	62365008	Missense_Mutation	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08		62365008	660512	108	33691											
CACNG2	10369	broad.mit.edu	37	chr22	37098459	37098459	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggaatgggtcataacttcctCgttctttttgctggtttcat	9	8	3	0			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:37098459C>T	ENST00000300105.6	-	1	1144	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	55					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						ATAACTTCCTCGTTCTTTTTG	0.517																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(163-165)Gag>Aag		calcium channel, voltage-dependent, gamma subunit 2							246	204	218					22																	37098459		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:37098459C>T	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.163G>A	22.37:g.37098459C>T	ENSP00000300105:p.Glu55Lys						p.E55K	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			1	1144	-			55					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.163G>A	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	16.52	3.145171	0.57044	.	.	ENSG00000166862	ENST00000300105	T	0.37584	1.19	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	N	0.12746	0.255	0.58432	D	0.999997	D	0.52996	0.957	P	0.44394	0.448	T	0.04281	-1.0963	10	0.06891	T	0.86	-10.3973	17.3494	0.87318	0.0:1.0:0.0:0.0	.	55	Q9Y698	CCG2_HUMAN	K	55	ENSP00000300105:E55K	ENSP00000300105:E55K	E	-	1	0	CACNG2	35428405	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.284000	0.78650	2.134000	0.65973	0.546000	0.68486	GAG		0.517	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			113	321	0	0	0	2.47226e-05	0	113	321					T	37098459	C	T	37098459	3	4	90	1	0	0	0	0	1	0	0	0	2564	893	31	1	824	1	CACNG2	22	37098459	Missense_Mutation	SNP	C	TCGA-IB-A7LX-01A-12D-A36O-08		37098459	14206107	109	33692											
LGALS1	3956	broad.mit.edu	37	chr22	38075643	38075643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaccaggccaacctgaccGtcaagctgccagatggatac	10	14	1	2	rs375290542		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chr22:38075643G>A	ENST00000215909.5	+	4	390	c.295G>A	c.(295-297)Gtc>Atc	p.V99I	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	99	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CAACCTGACCGTCAAGCTGCC	0.567																																					Pancreas(23;406 890 14304 26016)	ENST00000215909.5																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(295-297)Gtc>Atc		lectin, galactoside-binding, soluble, 1		G	ILE/VAL	0,4406		0,0,2203	115	82	93		295	-0.1	1	22		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	LGALS1	NM_002305.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	99/136	38075643	1,13005	2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38075643G>A		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"Lectins, galactoside-binding", "Endogenous ligands"	6561	protein-coding gene	gene with protein product	"galectin 1"	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.295G>A	22.37:g.38075643G>A	ENSP00000215909:p.Val99Ile					LGALS1_ENST00000489315.1_3'UTR	p.V99I	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN			4	390	+	Melanoma(58;0.0574)		99			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.295G>A	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	g	0.469	-0.885255	0.02511	0.0	1.16E-4	ENSG00000100097	ENST00000215909	T	0.04360	3.64	6.08	-0.0473	0.13844	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.237165	0.42294	N	0.000737	T	0.03695	0.0105	L	0.31120	0.905	0.31764	N	0.632933	B	0.11235	0.004	B	0.19666	0.026	T	0.35051	-0.9804	10	0.19590	T	0.45	-0.9193	10.1288	0.42665	0.4005:0.0:0.5995:0.0	.	99	P09382	LEG1_HUMAN	I	99	ENSP00000215909:V99I	ENSP00000215909:V99I	V	+	1	0	LGALS1	36405589	0.451000	0.25705	0.997000	0.53966	0.127000	0.20565	0.715000	0.25822	-0.043000	0.13513	-1.057000	0.02308	GTC		0.567	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		50	158	0	0	0	2.47226e-05	0	50	158					A	38075643	G	A	38075643	3	1	90	1	0	0	0	0	1	0	0	0	8769	1145	40	1	309	1	LGALS1	22	38075643	Missense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	977184	38075643	13228923	110	33693											
CXorf21	80231	broad.mit.edu	37	chrX	30577624	30577624	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaggagtgctaatttcagtAatttcagttgacatcaattg	8	6	3	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:30577624A>G	ENST00000378962.3	-	3	1171	c.849T>C	c.(847-849)atT>atC	p.I283I		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TAATTTCAGTAATTTCAGTTG	0.378																																						ENST00000378962.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(847-849)atT>atC		chromosome X open reading frame 21							78	68	71					X																	30577624		2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577624A>G	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.849T>C	X.37:g.30577624A>G							p.I283I	NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN			3	1171	-			283						Silent	SNP	ENST00000378962.3	37	c.849T>C	CCDS14224.1																																																																																				0.378	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		4	124	0	0	0	2.56e-06	0	4	124					G	30577624	A	G	30577624	2	3	90	1	0	0	0	0	0	0	0	1	4112	358	13	4		4	CXorf21	23	30577624	Silent	SNP	A	TCGA-IB-A7LX-01A-12D-A36O-08		30577624	124692936	111	33694											
ATRX	546	broad.mit.edu	37	chrX	76937446	76937446	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacaatcttgtctcttccttGaactctttccaagcaacttg	4	12	3	1			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:76937446G>T	ENST00000373344.5	-	9	3516	c.3302C>A	c.(3301-3303)tCa>tAa	p.S1101*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1101					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						TCTCTTCCTTGAACTCTTTCC	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3301-3303)tCa>tAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						120	129	126					X																	76937446		2203	4289	6492	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937446G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3302C>A	X.37:g.76937446G>T	ENSP00000362441:p.Ser1101*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1063*	p.S1101*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3516	-			1101					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.3302C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	44	10.823445	0.99473	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.65	5.65	0.86999	.	0.631889	0.14695	N	0.303893	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.4388	16.8866	0.86077	0.0:0.0:1.0:0.0	.	.	.	.	X	1101;1063;1028	.	ENSP00000362441:S1101X	S	-	2	0	ATRX	76824102	0.200000	0.23398	0.858000	0.33744	0.899000	0.52679	2.515000	0.45512	2.364000	0.80123	0.513000	0.50165	TCA		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		12	926	1	0	1.49906e-05	1.49906e-05	0.00640621	12	926					T	76937446	G	T	76937446	4	4	90	1	0	0	0	0	0	1	0	0	1209	1294	45	3	4284	3	ATRX	23	76937446	Nonsense_Mutation	SNP	G	TCGA-IB-A7LX-01A-12D-A36O-08	46359822	76937446	78333114	112	33695											
NAP1L3	4675	broad.mit.edu	37	chrX	92926869	92926869	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtatagtaatagattgattTcaggatgacattatcatgta	8	3	2	3			TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:92926869T>C	ENST00000373079.3	-	1	1698	c.1435A>G	c.(1435-1437)Aaa>Gaa	p.K479E	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.K472E|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	479					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						TAGATTGATTTCAGGATGACA	0.363																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1435-1437)Aaa>Gaa		nucleosome assembly protein 1-like 3							70	62	65					X																	92926869		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92926869T>C		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.1435A>G	X.37:g.92926869T>C	ENSP00000362171:p.Lys479Glu					NAP1L3_ENST00000475430.1_5'UTR	p.K479E	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	1698	-			479					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1435A>G	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.902300	0.33628	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.25912	1.77	3.42	3.42	0.39159	.	0.053033	0.64402	D	0.000001	T	0.34774	0.0909	L	0.46947	1.48	0.09310	N	1	D	0.63046	0.992	D	0.64410	0.925	T	0.07385	-1.0775	10	0.62326	D	0.03	.	4.6798	0.12729	0.0:0.1434:0.0:0.8566	.	479	Q99457	NP1L3_HUMAN	E	479;472	ENSP00000362171:K479E	ENSP00000362171:K479E	K	-	1	0	NAP1L3	92813525	0.998000	0.40836	0.715000	0.30552	0.719000	0.41307	1.448000	0.35112	1.588000	0.49971	0.430000	0.28490	AAA		0.363	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		5	132	0	0	0	5.9392e-07	0	5	132					C	92926869	T	C	92926869	3	2	90	1	0	0	0	0	1	0	0	0	10199	1792	62	4	89	4	NAP1L3	23	92926869	Missense_Mutation	SNP	T	TCGA-IB-A7LX-01A-12D-A36O-08	15989423	92926869	62343691	113	33696											
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-													ctcactactttcctcagagcCctcctcagggggaggactcc					rs377463560		TCGA-IB-A7LX-01A-12D-A36O-08	TCGA-IB-A7LX-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42e059c-cdb8-4a32-83d3-298334042c3e	1ad317bb-1738-4a90-a9a5-17f34cb9357e	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										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	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	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.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	941						8	941	---	---	---	---	-	140994846	CCT	-	140994844	7	5	90	1	0	1	0	1	0	0	0	0	9221	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-IB-A7LX-01A-12D-A36O-08	48067975	140994844	14275716	114	33697											
MRPL20	55052	broad.mit.edu	37	chr1	1337486	1337486	+	Frame_Shift_Del	DEL	A	A	-													gtggtactgcaccactctggAaaaaatgccttcaggttcct							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:1337486delA	ENST00000344843.7	-	4	522	c.427delT	c.(427-429)tccfs	p.S143fs	MRPL20_ENST00000493287.1_5'UTR|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	143					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;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;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)		ACCACTCTGGAAAAAATGCCT	0.443																																						ENST00000344843.7																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(427-429)ccfs		mitochondrial ribosomal protein L20							150	144	146					1																	1337486		2203	4296	6499	SO:0001589	frameshift_variant	55052						protein binding|rRNA binding	g.chr1:1337486delA	AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"Mitochondrial ribosomal proteins / large subunits"	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.427delT	1.37:g.1337486delA	ENSP00000341082:p.Ser143fs					MRPL20_ENST00000493287.1_5'UTR	p.S143fs	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	522	-	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)	143					B2RE41|B7Z746	Frame_Shift_Del	DEL	ENST00000344843.7	37	c.427delT	CCDS26.1																																																																																				0.443	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008139.1	NM_017971		7	1198						7	1198	---	---	---	---	-	1337486	A	-	1337486	7	5	91	1	0	1	0	1	0	0	0	0	9827	246	9	0	26	0	MRPL20	1	1337486	Frame_Shift_Del	DEL	A	TCGA-IB-A7M4-01A-11D-A36O-08		1337486	247913135	1	33698											
MEGF6	1953	broad.mit.edu	37	chr1	3511972	3511972	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcacggtccgggcctcCgtggtatacacctgcctgta	12	14	0	1	rs373577278		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:3511972C>T	ENST00000356575.4	-	3	532	c.306G>A	c.(304-306)acG>acA	p.T102T		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	102	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCCGGGCCTCCGTGGTATACA	0.637													c|||	1	0.000199681	0.0	0.0	5008	,	,		14108	0.001		0.0	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(304-306)acG>acA		multiple EGF-like-domains 6				1,4033		0,1,2016	35	43	40		306	-4.7	0	1		40	0,8354		0,0,4177	no	coding-synonymous	MEGF6	NM_001409.3		0,1,6193	TT,TC,CC		0.0,0.0248,0.0081		102/1542	3511972	1,12387	2017	4177	6194	SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3511972C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.306G>A	1.37:g.3511972C>T							p.T102T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	3	532	-	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)	102			EMI.		Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.306G>A	CCDS41237.1																																																																																				0.637	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		22	281	0	0	0	7.16444e-05	0	22	281					T	3511972	C	T	3511972	2	4	91	1	0	0	0	0	0	0	0	1	9503	639	23	1		1	MEGF6	1	3511972	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	2174486	3511972	245738649	2	33699											
NBPF3	84224	broad.mit.edu	37	chr1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactcactggatagatTttattcaactccttttgagt	8	8	2	2	rs201055589		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				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)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63	41	49					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	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.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C	p.F368C			Q9H094	NBPF3_HUMAN		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)	14	2151	+		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)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	91	0	0	0	1.23904e-05	0	5	91					G	21806606	T	G	21806606	3	3	91	1	0	0	0	0	1	0	0	0	10239	1841	64	4	1309	4	NBPF3	1	21806606	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	18294634	21806606	227444015	3	33700											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|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)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	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.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		7	742						7	742	---	---	---	---	-	38166151	GAA	-	38166149	7	5	91	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-IB-A7M4-01A-11D-A36O-08	16359543	38166149	211084472	4	33701											
TIE1	7075	broad.mit.edu	37	chr1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtatatcgctattgaatatgCcccctacgggaacctgctag	9	11	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	920	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A920V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGAATATGCCCCCTACGGG	0.527																																						ENST00000372476.3																			2	Substitution - Missense(2)	p.A920V(2)	urinary_tract(2)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2758-2760)gCc>gTc		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							280	295	290					1																	43783580		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783580C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2759C>T	1.37:g.43783580C>T	ENSP00000361554:p.Ala920Val					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A565V	p.A920V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			17	2838	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	920			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2759C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505865	0.96371	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.68331	-0.32;-0.32	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001215	T	0.72350	0.3449	N	0.13198	0.31	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	0.76130	-0.3072	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	875;565;920	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	920;323;203;565	ENSP00000361554:A920V;ENSP00000411728:A565V	ENSP00000361553:A323V	A	+	2	0	TIE1	43556167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.882000	0.98803	0.655000	0.94253	GCC		0.527	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		9	1674	0	0	0	1.12685e-05	0	9	1674					T	43783580	C	T	43783580	3	4	91	1	0	0	0	0	1	0	0	0	15945	739	26	2	2825	2	TIE1	1	43783580	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	5617431	43783580	205467041	5	33702											
STIL	6491	broad.mit.edu	37	chr1	47748097	47748097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagagtcgtgatcatgtaTtggcatcttcccagaagata	9	9	2	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:47748097T>C	ENST00000360380.3	-	12	1531	c.1168A>G	c.(1168-1170)Ata>Gta	p.I390V	STIL_ENST00000396221.2_Missense_Mutation_p.I390V|STIL_ENST00000337817.5_Missense_Mutation_p.I390V|STIL_ENST00000243182.6_Missense_Mutation_p.I390V|STIL_ENST00000371877.3_Missense_Mutation_p.I390V	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	390					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)				TGATCATGTATTGGCATCTTC	0.388																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1168-1170)Ata>Gta		SCL/TAL1 interrupting locus							117	119	119					1																	47748097		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47748097T>C	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.1168A>G	1.37:g.47748097T>C	ENSP00000353544:p.Ile390Val					STIL_ENST00000396221.2_Missense_Mutation_p.I390V|STIL_ENST00000371877.3_Missense_Mutation_p.I390V|STIL_ENST00000243182.6_Missense_Mutation_p.I390V|STIL_ENST00000337817.5_Missense_Mutation_p.I390V	p.I390V			Q15468	STIL_HUMAN			12	1531	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	390					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1168A>G	CCDS548.1	.	.	.	.	.	.	.	.	.	.	T	0.547	-0.850932	0.02651	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.74	-4.22	0.03800	.	0.663385	0.16965	N	0.192348	T	0.17916	0.0430	N	0.13043	0.29	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	0.08055	0.003;0.003;0.003;0.003;0.003	T	0.33701	-0.9858	10	0.08599	T	0.76	-1.1589	9.5812	0.39488	0.0:0.5654:0.122:0.3126	.	390;343;390;390;390	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	V	390;390;390;390;390;343	ENSP00000353544:I390V;ENSP00000337367:I390V;ENSP00000360944:I390V;ENSP00000379523:I390V;ENSP00000243182:I390V;ENSP00000411664:I343V	ENSP00000243182:I390V	I	-	1	0	STIL	47520684	0.053000	0.20554	0.184000	0.23157	0.125000	0.20455	-0.250000	0.08830	-0.747000	0.04759	0.459000	0.35465	ATA		0.388	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		95	362	0	0	0	0.000147903	0	95	362					C	47748097	T	C	47748097	3	2	91	1	0	0	0	0	1	0	0	0	15334	1493	52	4	2726	4	STIL	1	47748097	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	3964517	47748097	201502524	6	33703											
ANKRD13C	81573	broad.mit.edu	37	chr1	70819981	70819981	+	Frame_Shift_Del	DEL	G	G	-													ccaatcctgcttctggtaaaGgtaccgccgagggcagccgc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:70819981delG	ENST00000370944.4	-	1	424	c.111delC	c.(109-111)accfs	p.T37fs	HHLA3_ENST00000432224.1_5'Flank|ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.T37fs|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000361764.4_5'Flank|HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000370940.5_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	37					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						TTCTGGTAAAGGTACCGCCGA	0.602																																						ENST00000370944.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(109-111)acfs		ankyrin repeat domain 13C							55	63	61					1																	70819981		2203	4300	6503	SO:0001589	frameshift_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70819981delG		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.111delC	1.37:g.70819981delG	ENSP00000359982:p.Thr37fs					ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.T37fs	p.T37fs	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			1	424	-			37					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Frame_Shift_Del	DEL	ENST00000370944.4	37	c.111delC	CCDS648.2																																																																																				0.602	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		79	432						79	432	---	---	---	---	-	70819981	G	-	70819981	7	5	91	1	0	1	0	1	0	0	0	0	643	987	35	0	1566	0	ANKRD13C	1	70819981	Frame_Shift_Del	DEL	G	TCGA-IB-A7M4-01A-11D-A36O-08	23071884	70819981	178430640	7	33704											
AGL	178	broad.mit.edu	37	chr1	100382219	100382219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttccagattgatgggcccGgagactactgcaaagactat	10	9	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:100382219G>A	ENST00000294724.4	+	33	4891	c.4413G>A	c.(4411-4413)ccG>ccA	p.P1471P	AGL_ENST00000370163.3_Silent_p.P1471P|AGL_ENST00000361522.4_Silent_p.P1454P|AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000361915.3_Silent_p.P1471P|AGL_ENST00000370161.2_Silent_p.P1455P|AGL_ENST00000361302.3_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																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4411-4413)ccG>ccA		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							83	88	86					1																	100382219		2203	4300	6503	SO:0001819	synonymous_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100382219G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4413G>A	1.37:g.100382219G>A						AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000370161.2_Silent_p.P1455P|AGL_ENST00000361522.4_Silent_p.P1454P|AGL_ENST00000361915.3_Silent_p.P1471P|AGL_ENST00000361302.3_Silent_p.P1455P|AGL_ENST00000370163.3_Silent_p.P1471P	p.P1471P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	33	4891	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1471					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	c.4413G>A	CCDS759.1																																																																																				0.353	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		17	285	0	0	0	5.01169e-05	0	17	285					A	100382219	G	A	100382219	2	1	91	1	0	0	0	0	0	0	0	1	384	1103	39	1		1	AGL	1	100382219	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	29562238	100382219	148868402	8	33705											
IVL	3713	broad.mit.edu	37	chr1	152882593	152882593	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaacccagagcagcAgcttaagcaggagaaaacac	10	10	0	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:152882593A>G	ENST00000368764.3	+	2	384	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	107					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)			CCAGAGCAGCAGCTTAAGCAG	0.488																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(319-321)cAg>cGg		involucrin							55	57	56					1																	152882593		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882593A>G	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.320A>G	1.37:g.152882593A>G	ENSP00000357753:p.Gln107Arg					IVL_ENST00000392667.2_5'UTR	p.Q107R			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	384	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		107					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.320A>G	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447930	0.26074	.	.	ENSG00000163207	ENST00000368764	T	0.10573	2.86	4.46	3.29	0.37713	.	.	.	.	.	T	0.07279	0.0184	N	0.19112	0.55	0.47407	D	0.999415	D	0.59357	0.985	D	0.65233	0.933	T	0.31081	-0.9956	9	0.33141	T	0.24	.	8.638	0.33959	0.8286:0.0:0.0:0.1714	.	107	P07476	INVO_HUMAN	R	107	ENSP00000357753:Q107R	ENSP00000357753:Q107R	Q	+	2	0	IVL	151149217	0.000000	0.05858	0.055000	0.19348	0.058000	0.15608	0.047000	0.14056	0.800000	0.34041	0.402000	0.26972	CAG		0.488	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		38	176	0	0	0	0.000132358	0	38	176					G	152882593	A	G	152882593	3	3	91	1	0	0	0	0	1	0	0	0	7959	188	7	4	322	4	IVL	1	152882593	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	52500374	152882593	96368028	9	33706											
FCRL2	79368	broad.mit.edu	37	chr1	157736756	157736756	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaggtctcttctatagccatCaggtcctgaggaaagaaagc	11	9	3	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:157736756C>G	ENST00000361516.3	-	7	1216	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	FCRL2_ENST00000368181.4_Missense_Mutation_p.D106H|FCRL2_ENST00000392274.3_Missense_Mutation_p.D390H|FCRL2_ENST00000469986.1_Missense_Mutation_p.D137H	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	390					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)			CTATAGCCATCAGGTCCTGAG	0.443																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1168-1170)Gat>Cat		Fc receptor-like 2							99	102	101					1																	157736756		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157736756C>G	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.1168G>C	1.37:g.157736756C>G	ENSP00000355157:p.Asp390His					FCRL2_ENST00000469986.1_Missense_Mutation_p.D137H|FCRL2_ENST00000392274.3_Missense_Mutation_p.D390H|FCRL2_ENST00000368181.4_Missense_Mutation_p.D106H	p.D390H	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		7	1216	-	all_hematologic(112;0.0378)		390					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1168G>C	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066107	0.20067	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274;ENST00000469986	T;T;T;T	0.22336	2.06;3.62;1.96;3.04	3.22	-4.53	0.03462	.	4.697510	0.00866	U	0.001962	T	0.06962	0.0177	L	0.40543	1.245	0.09310	N	1	P;P;B;B	0.47762	0.9;0.799;0.032;0.376	P;B;B;B	0.45913	0.497;0.263;0.025;0.071	T	0.10520	-1.0626	10	0.52906	T	0.07	.	1.3638	0.02197	0.1577:0.2103:0.156:0.476	.	390;106;390;137	B4DVJ9;Q96LA5-5;Q96LA5;Q96LA5-2	.;.;FCRL2_HUMAN;.	H	106;390;106;390;137	ENSP00000355157:D390H;ENSP00000357163:D106H;ENSP00000376100:D390H;ENSP00000417393:D137H	ENSP00000292389:D106H	D	-	1	0	FCRL2	156003380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.231000	0.00548	-0.956000	0.03631	-0.140000	0.14226	GAT		0.443	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		4	219	0	0	0	2.56e-06	0	4	219					G	157736756	C	G	157736756	3	3	91	1	0	0	0	0	1	0	0	0	5820	826	29	5	382	5	FCRL2	1	157736756	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	4854163	157736756	91513865	10	33707											
KIFAP3	22920	broad.mit.edu	37	chr1	170015874	170015874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctgacaatgaatcacGgcggttctgtagatagtaca	9	8	2	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:170015874G>T	ENST00000361580.2	-	3	525	c.298C>A	c.(298-300)Cgt>Agt	p.R100S	KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R56S|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R60S|KIFAP3_ENST00000490550.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	100					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGAATCACGGCGGTTCTGT	0.363																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(178-180)Cgt>Agt		kinesin-associated protein 3							136	130	132					1																	170015874		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170015874G>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.298C>A	1.37:g.170015874G>T	ENSP00000354560:p.Arg100Ser					KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.R56S|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.R100S	p.R60S	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			3	1679	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		100					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.178C>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162933	0.57476	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767	T;T;T	0.48522	0.81;0.81;0.81	5.62	5.62	0.85841	Armadillo-like helical (1);	0.045878	0.85682	D	0.000000	T	0.18635	0.0447	N	0.19112	0.55	0.80722	D	1	P;P	0.39920	0.695;0.47	B;B	0.36666	0.23;0.168	T	0.03630	-1.1018	9	.	.	.	-13.1783	12.8625	0.57922	0.0:0.0:0.7363:0.2637	.	56;100	B1AKU5;Q92845	.;KIFA3_HUMAN	S	100;60;56	ENSP00000354560:R100S;ENSP00000356739:R60S;ENSP00000356741:R56S	.	R	-	1	0	KIFAP3	168282498	1.000000	0.71417	0.986000	0.45419	0.972000	0.66771	3.655000	0.54460	2.809000	0.96659	0.467000	0.42956	CGT		0.363	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		15	704	1	0	1.67942e-08	7.07596e-05	1.57443e-06	15	704					T	170015874	G	T	170015874	3	4	91	1	0	0	0	0	1	0	0	0	8341	1116	39	3	2152	3	KIFAP3	1	170015874	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	12279118	170015874	79234747	11	33708											
FAM5B	57795	broad.mit.edu	37	chr1	177250548	177250548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accttttctcctgcttgctcCggcatcggcttaagctggcc	9	15	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:177250548C>T	ENST00000361539.4	+	8	2548	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	746					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.R746W(1)									CTGCTTGCTCCGGCATCGGCT	0.557																																						ENST00000361539.4																			1	Substitution - Missense(1)	p.R746W(1)	kidney(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(2236-2238)Cgg>Tgg									81	75	77					1																	177250548		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177250548C>T		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.2236C>T	1.37:g.177250548C>T	ENSP00000354481:p.Arg746Trp					FAM5B_ENST00000478325.1_3'UTR	p.R746W	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			8	2548	+			746					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2236C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184485	0.78677	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19105	2.17	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.48917	-0.8992	10	0.87932	D	0	-25.3023	17.9969	0.89187	0.0:1.0:0.0:0.0	.	641;746	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	W	499;746	ENSP00000354481:R746W	ENSP00000354481:R746W	R	+	1	2	FAM5B	175517171	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.767000	0.62286	2.346000	0.79739	0.313000	0.20887	CGG		0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		86	274	0	0	0	0.000147903	0	86	274					T	177250548	C	T	177250548	3	4	91	1	0	0	0	0	1	0	0	0	5618	643	23	1	2262	1	FAM5B	1	177250548	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7234674	177250548	72000073	12	33709											
PLXNA2	5362	broad.mit.edu	37	chr1	208390894	208390894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccacaggccagcaggCggttctcagagtagtcaatg	13	12	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:208390894C>T	ENST00000367033.3	-	2	1131	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	125	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)		GGCCAGCAGGCGGTTCTCAGA	0.577																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(373-375)cGc>cAc		plexin A2							94	99	98					1																	208390894		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390894C>T	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.374G>A	1.37:g.208390894C>T	ENSP00000356000:p.Arg125His						p.R125H	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1131	-			125			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.374G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793291	0.90453	.	.	ENSG00000076356	ENST00000367033	T	0.10573	2.86	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	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	0.43798	-0.9369	10	0.87932	D	0	.	19.7016	0.96057	0.0:1.0:0.0:0.0	.	179;125	O75051-2;O75051	.;PLXA2_HUMAN	H	125	ENSP00000356000:R125H	ENSP00000356000:R125H	R	-	2	0	PLXNA2	206457517	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.512000	0.81728	2.662000	0.90505	0.514000	0.50259	CGC		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		112	359	0	0	0	0.000147903	0	112	359					T	208390894	C	T	208390894	3	4	91	1	0	0	0	0	1	0	0	0	12162	768	27	1	5434	1	PLXNA2	1	208390894	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	31140346	208390894	40859727	13	33710											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q	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	954	Gln-rich.				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		7	921						7	921	---	---	---	---	-	212115193	TGC	-	212115191	7	5	91	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-IB-A7M4-01A-11D-A36O-08	3724297	212115191	37135430	14	33711											
LYST	1130	broad.mit.edu	37	chr1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgatttgttcacatcGcaaaatttctttattaatat	3	7	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1718					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)			TGTTCACATCGCAAAATTTCT	0.294																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5152-5154)Cga>Tga		lysosomal trafficking regulator							35	38	37					1																	235944227		2202	4300	6502	SO:0001587	stop_gained	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235944227G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5152C>T	1.37:g.235944227G>A	ENSP00000374444:p.Arg1718*					LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*	p.R1718*			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		16	5326	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1718					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.5152C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.019982	0.99627	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	4.11	0.48088	.	0.354342	0.31872	N	0.006937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6163	0.56578	0.0:0.0:0.6889:0.3111	.	.	.	.	X	1718	.	ENSP00000374443:R1718X	R	-	1	2	LYST	234010850	0.998000	0.40836	0.850000	0.33497	0.976000	0.68499	2.716000	0.47219	1.193000	0.43086	0.467000	0.42956	CGA		0.294	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	367	0	0	0	8.12818e-05	0	6	367					A	235944227	G	A	235944227	4	1	91	1	0	0	0	0	0	1	0	0	9167	1095	38	1	6405	1	LYST	1	235944227	Nonsense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	23829036	235944227	13306394	15	33712											
RYR2	6262	broad.mit.edu	37	chr1	237780691	237780691	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagctccaagacaatcaaCgtttccgatacaacgaagtc	6	12	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:237780691C>T	ENST00000366574.2	+	38	6138	c.5821C>T	c.(5821-5823)Cgt>Tgt	p.R1941C	RYR2_ENST00000360064.6_Missense_Mutation_p.R1939C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1925C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1941	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)			AGACAATCAACGTTTCCGATA	0.473																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5821-5823)Cgt>Tgt		ryanodine receptor 2 (cardiac)							100	92	94					1																	237780691		1980	4184	6164	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780691C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5821C>T	1.37:g.237780691C>T	ENSP00000355533:p.Arg1941Cys					RYR2_ENST00000542537.1_Missense_Mutation_p.R1925C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1939C	p.R1941C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		38	6138	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1941			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5821C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152395	0.57259	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000005	T	0.67078	0.2855	L	0.39397	1.21	0.80722	D	1	D	0.55800	0.973	B	0.41813	0.367	T	0.71708	-0.4511	10	0.56958	D	0.05	.	14.0546	0.64759	0.1508:0.8492:0.0:0.0	.	1941	Q92736	RYR2_HUMAN	C	1941;1939;1925	ENSP00000355533:R1941C;ENSP00000353174:R1939C;ENSP00000443798:R1925C	ENSP00000353174:R1939C	R	+	1	0	RYR2	235847314	0.849000	0.29639	0.949000	0.38748	0.983000	0.72400	1.765000	0.38481	2.517000	0.84864	0.650000	0.86243	CGT		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	235	0	0	0	2.56e-06	0	4	235					T	237780691	C	T	237780691	3	4	91	1	0	0	0	0	1	0	0	0	13819	536	19	1	5971	1	RYR2	1	237780691	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	1836464	237780691	11469930	16	33713											
KIF26B	55083	broad.mit.edu	37	chr1	245772663	245772663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaagctcataaacgaaCgcaaggaaaagaccggcgcc	9	12	3	1	rs115703444	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:245772663C>T	ENST00000407071.2	+	8	2187	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R202C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	583	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)			CATAAACGAACGCAAGGAAAA	0.567													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17666	0.0		0.0	False		,,,				2504	0.0					ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(604-606)Cgc>Tgc		kinesin family member 26B		C	CYS/ARG	1,3841		0,1,1920	36	37	37		1747	5.2	1	1	dbSNP_132	37	0,8244		0,0,4122	yes	missense	KIF26B	NM_018012.3	180	0,1,6042	TT,TC,CC		0.0,0.026,0.0083	probably-damaging	583/2109	245772663	1,12085	1921	4122	6043	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245772663C>T	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.1747C>T	1.37:g.245772663C>T	ENSP00000385545:p.Arg583Cys					KIF26B_ENST00000407071.2_Missense_Mutation_p.R583C	p.R202C			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		5	708	+	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)		583					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.604C>T	CCDS44342.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.12	2.440500	0.43326	2.6E-4	0.0	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76060	-0.99;-0.99	5.22	5.22	0.72569	Kinesin, motor domain (4);	.	.	.	.	T	0.79015	0.4375	L	0.52364	1.645	0.80722	D	1	P;P	0.48407	0.91;0.869	P;P	0.51550	0.488;0.673	T	0.80223	-0.1471	9	0.56958	D	0.05	.	19.1397	0.93443	0.0:1.0:0.0:0.0	.	202;583	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	583;202;199	ENSP00000385545:R583C;ENSP00000355475:R202C	ENSP00000355475:R202C	R	+	1	0	KIF26B	243839286	1.000000	0.71417	0.976000	0.42696	0.742000	0.42306	2.108000	0.41854	2.590000	0.87494	0.650000	0.86243	CGC		0.567	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		17	76	0	0	0	7.07596e-05	0	17	76					T	245772663	C	T	245772663	3	4	91	1	0	0	0	0	1	0	0	0	8325	536	19	1	1777	1	KIF26B	1	245772663	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7991972	245772663	3477958	17	33714											
OR14C36	127066	broad.mit.edu	37	chr1	248513002	248513002	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgaagagaattttttattCagaaaatgtgtaagaaaccc	7	5	1	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:248513002C>A	ENST00000317861.1	+	1	926	c.926C>A	c.(925-927)tCa>tAa	p.S309*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTTTTATTCAGAAAATGTG	0.328																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(925-927)tCa>tAa		olfactory receptor, family 14, subfamily C, member 36							49	61	57					1																	248513002		1968	3820	5788	SO:0001587	stop_gained	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248513002C>A	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.926C>A	1.37:g.248513002C>A	ENSP00000324534:p.Ser309*						p.S309*	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	926	+			309					Q6IEZ6	Nonsense_Mutation	SNP	ENST00000317861.1	37	c.926C>A	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118676	0.37436	.	.	ENSG00000177174	ENST00000317861	.	.	.	3.07	3.07	0.35406	.	1.879040	0.04039	U	0.302756	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9262	0.41494	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	ENSP00000324534:S309X	S	+	2	0	OR14C36	246579625	0.000000	0.05858	0.235000	0.24058	0.127000	0.20565	-0.623000	0.05546	1.773000	0.52216	0.388000	0.25769	TCA		0.328	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		10	374	1	0	0.00010058	0.00010058	0.00898808	10	374					A	248513002	C	A	248513002	4	1	91	1	0	0	0	0	0	1	0	0	10988	838	29	3	928	3	OR14C36	1	248513002	Nonsense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	2740339	248513002	737619	18	33715											
IFT172	26160	broad.mit.edu	37	chr2	27700888	27700888	+	Frame_Shift_Del	DEL	C	C	-													aagccgattagtgttcaggtCccccagcagcagtgtttctg							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:27700888delC	ENST00000260570.3	-	11	1244	c.1141delG	c.(1141-1143)gacfs	p.D381fs	IFT172_ENST00000359466.6_Frame_Shift_Del_p.D381fs|IFT172_ENST00000416524.2_Frame_Shift_Del_p.D360fs|RNU6-986P_ENST00000363133.1_RNA	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	381					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)					GTGTTCAGGTCCCCCAGCAGC	0.488																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1141-1143)acfs		intraflagellar transport 172 homolog (Chlamydomonas)							267	236	247					2																	27700888		2203	4300	6503	SO:0001589	frameshift_variant	26160				cilium assembly	cilium	binding	g.chr2:27700888delC	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.1141delG	2.37:g.27700888delC	ENSP00000260570:p.Asp381fs					IFT172_ENST00000359466.6_Frame_Shift_Del_p.D381fs|IFT172_ENST00000416524.2_Frame_Shift_Del_p.D360fs	p.D381fs	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			11	1244	-	Acute lymphoblastic leukemia(172;0.155)		381					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	ENST00000260570.3	37	c.1141delG	CCDS1755.1																																																																																				0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		7	1247						7	1247	---	---	---	---	-	27700888	C	-	27700888	7	5	91	1	0	1	0	1	0	0	0	0	7587	855	30	0	4260	0	IFT172	2	27700888	Frame_Shift_Del	DEL	C	TCGA-IB-A7M4-01A-11D-A36O-08		27700888	215498485	19	33716											
RNF103	7844	broad.mit.edu	37	chr2	86831014	86831015	+	Frame_Shift_Ins	INS	-	-	T													ggtgttgtgcatatggctgcINSttttttttataagaaggcca							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:86831014_86831015insT	ENST00000237455.4	-	4	2977_2978	c.2009_2010insA	c.(2008-2010)aagfs	p.K670fs	AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'Flank|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	670					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						CATATGGCTGCTTTTTTTTATA	0.441																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(2008-2010)acafs		ring finger protein 103			,,	0,4266		0,0,2133					,,	4.7	1			35	3,8251		0,3,4124	no	frameshift,intron,frameshift	RNF103,RNF103-VPS24	NM_005667.3,NM_001198954.1,NM_001198951.1	,,	0,3,6257	A1A1,A1R,RR		0.0363,0.0,0.024	,,	,,		3,12517				SO:0001589	frameshift_variant	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86831014_86831015insT	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.2010dupA	2.37:g.86831022_86831022dupT	ENSP00000237455:p.Lys670fs					RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA	p.T670fs	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			4	2977_2978	-			670					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Frame_Shift_Ins	INS	ENST00000237455.4	37	c.2009_2010insA	CCDS33237.1																																																																																				0.441	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		8	563						8	563	---	---	---	---	T	86831015	-	T	86831014	7	5	91	1	0	1	1	0	0	0	0	0	13473	796	28	0	51	0	RNF103	2	86831014	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	59130126	86831014	156368359	20	33717											
MRPS5	64969	broad.mit.edu	37	chr2	95775728	95775728	+	Frame_Shift_Del	DEL	T	T	-													ttagttcttttgcctcttccTttttttgctccagcaccagt							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:95775728delT	ENST00000272418.2	-	4	544	c.336delA	c.(334-336)aaafs	p.K112fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	112					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						TGCCTCTTCCTTTTTTTGCTC	0.383																																						ENST00000272418.2																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(334-336)aafs		mitochondrial ribosomal protein S5							100	103	102					2																	95775728		2203	4300	6503	SO:0001589	frameshift_variant	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95775728delT	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.336delA	2.37:g.95775728delT	ENSP00000272418:p.Lys112fs						p.K112fs	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN			4	544	-			112					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	ENST00000272418.2	37	c.336delA	CCDS2010.1																																																																																				0.383	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902		10	812						10	812	---	---	---	---	-	95775728	T	-	95775728	7	5	91	1	0	1	0	1	0	0	0	0	9887	1606	56	0	992	0	MRPS5	2	95775728	Frame_Shift_Del	DEL	T	TCGA-IB-A7M4-01A-11D-A36O-08	8944714	95775728	147423645	21	33718											
CIAO1	55654	broad.mit.edu	37	chr2	96933201	96933201	+	5'Flank	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggaagaagaaccaggatgaCtttgaggtacccaggctggt	14	7	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:96933201C>G	ENST00000258439.3	-	0	0				CIAO1_ENST00000488633.1_Missense_Mutation_p.D94E|TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000469320.1_3'UTR	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						ACCAGGATGACTTTGAGGTAC	0.572																																						ENST00000488633.1																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(280-282)gaC>gaG		cytosolic iron-sulfur protein assembly 1							80	76	77					2																	96933201		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933201C>G	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933201C>G	Exception_encountered					CIAO1_ENST00000469320.1_3'UTR	p.D94E	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN			2	501	+			94					D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	c.282C>G	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	C	2.554	-0.303318	0.05495	.	.	ENSG00000144021	ENST00000488633	T	0.64618	-0.11	4.42	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.160021	0.53938	D	0.000052	T	0.33731	0.0873	N	0.16656	0.425	0.50313	D	0.999867	B	0.10296	0.003	B	0.06405	0.002	T	0.23154	-1.0196	10	0.02654	T	1	-31.1946	5.1613	0.15062	0.0:0.5091:0.2974:0.1935	.	94	O76071	CIAO1_HUMAN	E	94	ENSP00000418287:D94E	ENSP00000418287:D94E	D	+	3	2	CIAO1	96296928	0.987000	0.35691	1.000000	0.80357	0.992000	0.81027	0.182000	0.16900	0.511000	0.28236	0.655000	0.94253	GAC		0.572	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		108	328	0	0	0	0.000147903	0	108	328					G	96933201	C	G	96933201	1	3	91	0	1	0	0	0	0	0	0	0	3427	564	20	5		5	CIAO1	2	96933201	5'Flank	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	1157473	96933201	146266172	22	33719											
MKI67IP	84365	broad.mit.edu	37	chr2	122485323	122485323	+	Frame_Shift_Del	DEL	T	T	-													ctgattgctgcttcttcgtcTttttttccgtgaatgtgtag							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:122485323delT	ENST00000285814.4	-	7	931	c.859delA	c.(859-861)agafs	p.R289fs	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		289					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						CTTCTTCGTCTTTTTTTCCGT	0.303																																						ENST00000285814.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(859-861)gafs									126	124	125					2																	122485323		2203	4300	6503	SO:0001589	frameshift_variant	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485323delT																												ENST00000285814.4:c.859delA	2.37:g.122485323delT	ENSP00000285814:p.Arg289fs					AC018737.1_ENST00000419902.1_RNA	p.R289fs	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			7	931	-			289					A8K788|Q8TB66|Q96ED4	Frame_Shift_Del	DEL	ENST00000285814.4	37	c.859delA	CCDS2135.1																																																																																				0.303	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			8	703						8	703	---	---	---	---	-	122485323	T	-	122485323	7	5	91	1	0	1	0	1	0	0	0	0	9640	1617	56	0	26	0	MKI67IP	2	122485323	Frame_Shift_Del	DEL	T	TCGA-IB-A7M4-01A-11D-A36O-08	25552122	122485323	120714050	23	33720											
CNTNAP5	129684	broad.mit.edu	37	chr2	125671709	125671709	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatcatcttctgtatcatCggcatcatgacccggttcct	6	13	6	1	rs374804076		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:125671709C>T	ENST00000431078.1	+	24	4129	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1255					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.I1255I(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)		TCTGTATCATCGGCATCATGA	0.468																																						ENST00000431078.1																			1	Substitution - coding silent(1)	p.I1255I(1)	prostate(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						c.(3763-3765)atC>atT		contactin associated protein-like 5		C		1,3945		0,1,1972	174	164	167		3765	-8.1	0	2		167	0,8350		0,0,4175	no	coding-synonymous	CNTNAP5	NM_130773.2		0,1,6147	TT,TC,CC		0.0,0.0253,0.0081		1255/1307	125671709	1,12295	1973	4175	6148	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125671709C>T	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.3765C>T	2.37:g.125671709C>T							p.I1255I	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	24	4129	+			1255					Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3765C>T	CCDS46401.1																																																																																				0.468	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			25	475	0	0	0	2.90539e-05	0	25	475					T	125671709	C	T	125671709	2	4	91	1	0	0	0	0	0	0	0	1	3659	874	31	1		1	CNTNAP5	2	125671709	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	3186386	125671709	117527664	24	33721											
MYO7B	4648	broad.mit.edu	37	chr2	128335762	128335762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggactacgcccacatcCgctcggccatgaagatcctc	8	17	0	2	rs377172629		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:128335762C>T	ENST00000409816.2	+	8	936	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	MYO7B_ENST00000428314.1_Missense_Mutation_p.R302C|MYO7B_ENST00000389524.4_Missense_Mutation_p.R302C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	302	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)		CGCCCACATCCGCTCGGCCAT	0.622																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(904-906)Cgc>Tgc		myosin VIIB		C	CYS/ARG	0,4248		0,0,2124	62	68	66		904	3.4	0.9	2		66	1,8451		0,1,4225	no	missense	MYO7B	NM_001080527.1	180	0,1,6349	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	302/2117	128335762	1,12699	2124	4226	6350	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335762C>T		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.904C>T	2.37:g.128335762C>T	ENSP00000386461:p.Arg302Cys					MYO7B_ENST00000409816.2_Missense_Mutation_p.R302C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R302C	p.R302C			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	957	+	Colorectal(110;0.1)		302			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.904C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740794	0.69304	0.0	1.18E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88431	-2.38;-2.38;-2.38	4.25	3.36	0.38483	Myosin head, motor domain (2);	0.061993	0.64402	D	0.000003	D	0.87569	0.6210	M	0.79475	2.455	0.80722	D	1	P	0.40250	0.709	B	0.36289	0.221	D	0.88167	0.2861	10	0.87932	D	0	.	12.4074	0.55447	0.0:0.9171:0.0:0.0828	.	302	Q6PIF6	MYO7B_HUMAN	C	302	ENSP00000374175:R302C;ENSP00000415090:R302C;ENSP00000386461:R302C	ENSP00000374175:R302C	R	+	1	0	MYO7B	128052232	0.998000	0.40836	0.872000	0.34217	0.964000	0.63967	3.741000	0.55090	1.136000	0.42199	0.563000	0.77884	CGC		0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		33	170	0	0	0	7.24521e-05	0	33	170					T	128335762	C	T	128335762	3	4	91	1	0	0	0	0	1	0	0	0	10124	652	23	1	934	1	MYO7B	2	128335762	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	2664053	128335762	114863611	25	33722											
R3HDM1	23518	broad.mit.edu	37	chr2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-													ctccaccgccaccaccaccaCctcctcctcctcccctacca					rs139457585		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)cctdel	p.P605del	R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1801-1803)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409480_136409482delCCT	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1801_1803delCCT	2.37:g.136409489_136409491delCCT	ENSP00000264160:p.Pro605del					R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	p.P605del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2171_2173	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1801_1803delCCT	CCDS2177.1																																																																																				0.586	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		7	397						7	397	---	---	---	---	-	136409482	CCT	-	136409480	7	5	91	1	0	1	0	1	0	0	0	0	12937	507	18	0	1859	0	R3HDM1	2	136409480	In_Frame_Del	DEL	CCT	TCGA-IB-A7M4-01A-11D-A36O-08	8073718	136409480	106789893	26	33723											
SCN9A	6335	broad.mit.edu	37	chr2	167141148	167141148	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgatgttactgctgcgtcGctcctggggtctgtggggca	16	10	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:167141148G>A	ENST00000409435.1	-	11	1788	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R598*|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R598*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R597*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	597					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)	CTGCTGCGTCGCTCCTGGGGT	0.542																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1792-1794)Cga>Tga		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						96	102	100					2																	167141148		2139	4260	6399	SO:0001587	stop_gained	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141148G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1789C>T	2.37:g.167141148G>A	ENSP00000386330:p.Arg597*					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Nonsense_Mutation_p.R597*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R598*|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R597*	p.R598*			Q15858	SCN9A_HUMAN			12	2132	-			597					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Nonsense_Mutation	SNP	ENST00000409435.1	37	c.1792C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918909	0.73098	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	.	.	.	5.64	3.8	0.43715	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1065	0.72324	0.0:0.0:0.7411:0.2589	.	.	.	.	X	597;598;598;597;462;462	.	ENSP00000304748:R598X	R	-	1	2	SCN9A	166849394	0.826000	0.29277	1.000000	0.80357	0.365000	0.29674	1.783000	0.38664	0.812000	0.34326	-0.270000	0.10280	CGA		0.542	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		26	358	0	0	0	0.000117367	0	26	358					A	167141148	G	A	167141148	4	1	91	1	0	0	0	0	0	1	0	0	13975	1095	38	1	4208	1	SCN9A	2	167141148	Nonsense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	30731668	167141148	76058225	27	33724											
ITGA6	3655	broad.mit.edu	37	chr2	173356152	173356152	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattcactgtctccaaacaGgaatattccaaactgaacta	5	11	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:173356152G>A	ENST00000264106.6	+	24	3209		c.e24-1		ITGA6_ENST00000264107.7_Splice_Site|ITGA6_ENST00000375221.2_Splice_Site|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Splice_Site|ITGA6_ENST00000409080.1_Splice_Site|ITGA6_ENST00000343713.4_Splice_Site			P23229	ITA6_HUMAN	integrin, alpha 6						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)	p.?(2)		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)			TCTCCAAACAGGAATATTCCA	0.463																																						ENST00000375221.2																			2	Unknown(2)	p.?(2)	lung(2)	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						c.e24-1		integrin, alpha 6							93	84	87					2																	173356152		2203	4300	6503	SO:0001630	splice_region_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173356152G>A		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.3007-1G>A	2.37:g.173356152G>A						ITGA6_ENST00000343713.4_Splice_Site|ITGA6_ENST00000409080.1_Splice_Site|ITGA6_ENST00000264107.7_Splice_Site|ITGA6_ENST00000264106.6_Splice_Site|ITGA6_ENST00000409532.1_Splice_Site|AC093818.1_ENST00000442417.1_RNA				P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		24	3209	+								B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Splice_Site	SNP	ENST00000264106.6	37			.	.	.	.	.	.	.	.	.	.	G	17.51	3.408478	0.62399	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7456	0.91791	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA6	173064398	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	8.573000	0.90759	2.432000	0.82394	0.467000	0.42956	.		0.463	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			Intron	15	322	0	0	0	2.31682e-05	0	15	322					A	173356152	G	A	173356152	5	1	91	1	0	0	0	0	0	0	1	0	7910	1014	35	2	2979	2	ITGA6	2	173356152	Splice_Site	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	6215004	173356152	69843221	28	33725											
WIPF1	7456	broad.mit.edu	37	chr2	175436585	175436585	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaggaggcggcccGggcctgctgggaggtggcgg	24	9	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:175436585G>A	ENST00000392547.2	-	5	1047	c.948C>T	c.(946-948)ccC>ccT	p.P316P	WIPF1_ENST00000392546.2_Silent_p.P316P|WIPF1_ENST00000409415.3_Silent_p.P316P|WIPF1_ENST00000409891.1_Silent_p.P316P|WIPF1_ENST00000359761.3_Silent_p.P316P|WIPF1_ENST00000272746.5_Silent_p.P316P|WIPF1_ENST00000467149.1_5'Flank|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	316	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGCGGCCCGGGCCTGCTGG	0.662																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(946-948)ccC>ccT		WAS/WASL interacting protein family, member 1							23	27	26					2																	175436585		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175436585G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.948C>T	2.37:g.175436585G>A						WIPF1_ENST00000409891.1_Silent_p.P316P|WIPF1_ENST00000392546.2_Silent_p.P316P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Silent_p.P316P|WIPF1_ENST00000359761.3_Silent_p.P316P|WIPF1_ENST00000272746.5_Silent_p.P316P|AC018890.6_ENST00000412835.1_RNA	p.P316P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			5	1047	-			316			Pro-rich.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.948C>T	CCDS2260.1																																																																																				0.662	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		34	147	0	0	0	7.24521e-05	0	34	147					A	175436585	G	A	175436585	2	1	91	1	0	0	0	0	0	0	0	1	17421	1103	39	1		1	WIPF1	2	175436585	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	2080433	175436585	67762788	29	33726											
HOXD1	3231	broad.mit.edu	37	chr2	177054576	177054576	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccgctagcccctccagcgcGatccgcacgaatttcagcac	9	18	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:177054576G>A	ENST00000331462.4	+	2	916	c.693G>A	c.(691-693)gcG>gcA	p.A231A	HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000425005.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	231					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CCTCCAGCGCGATCCGCACGA	0.557																																						ENST00000331462.4																			0				kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10						c.(691-693)gcG>gcA		homeobox D1							92	104	100					2																	177054576		2203	4300	6503	SO:0001819	synonymous_variant	3231					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177054576G>A		CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"Homeoboxes / ANTP class : HOXL subclass"	5132	protein-coding gene	gene with protein product		142987	"homeo box D1"	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.693G>A	2.37:g.177054576G>A							p.A231A	NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)	2	916	+			231					B2RAB4	Silent	SNP	ENST00000331462.4	37	c.693G>A	CCDS2271.1																																																																																				0.557	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2			10	685	0	0	0	3.86212e-05	0	10	685					A	177054576	G	A	177054576	2	1	91	1	0	0	0	0	0	0	0	1	7348	1045	37	1		1	HOXD1	2	177054576	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	1617991	177054576	66144797	30	33727											
RAPH1	65059	broad.mit.edu	37	chr2	204305402	204305402	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcttgggtaatgttggCgggggtactggaacaggagg	19	4	0	0	rs144494517	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:204305402C>T	ENST00000319170.5	-	14	2810	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	RAPH1_ENST00000374493.3_Silent_p.P889P|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	837					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						GTAATGTTGGCGGGGGTACTG	0.582													C|||	4	0.000798722	0.0015	0.0014	5008	,	,		8603	0.0		0.001	False		,,,				2504	0.0					ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2509-2511)ccG>ccA		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1		C		1,4403		0,1,2201	44	52	50		2511	-5.8	0	2	dbSNP_134	50	1,8599		0,1,4299	no	coding-synonymous	RAPH1	NM_213589.1		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		837/1251	204305402	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305402C>T	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.2511G>A	2.37:g.204305402C>T						RAPH1_ENST00000374493.3_Silent_p.P889P|RAPH1_ENST00000457812.1_Intron	p.P837P	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			14	2810	-			837					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2511G>A	CCDS2359.1																																																																																				0.582	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		17	344	0	0	0	9.7654e-05	0	17	344					T	204305402	C	T	204305402	2	4	91	1	0	0	0	0	0	0	0	1	13100	755	27	1		1	RAPH1	2	204305402	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	27250826	204305402	38893971	31	33728											
RPL15	6138	broad.mit.edu	37	chr3	23960714	23960715	+	Frame_Shift_Ins	INS	-	-	T													tggacgccactgtggggctcINStgagagtcctgaattcttac							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:23960714_23960715insT	ENST00000307839.5	+	4	976_977	c.337_338insT	c.(337-339)ctgfs	p.L113fs	NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000435882.1_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000413699.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000354811.5_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000456530.2_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000415719.1_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000443659.2_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	113					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)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTGTGGGGCTCTGAGAGTCCTG	0.421																																						ENST00000307839.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(337-339)gagfs		ribosomal protein L15																																				SO:0001589	frameshift_variant	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23960714_23960715insT	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"L ribosomal proteins"	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.338dupT	3.37:g.23960715_23960715dupT	ENSP00000309334:p.Leu113fs					RPL15_ENST00000415719.1_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000354811.5_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000413699.1_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000456530.2_Frame_Shift_Ins_p.E113fs|RPL15_ENST00000435882.1_Frame_Shift_Ins_p.E113fs|NKIRAS1_ENST00000421515.2_Intron	p.E113fs	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN			4	976_977	+			113					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Frame_Shift_Ins	INS	ENST00000307839.5	37	c.337_338insT	CCDS2640.1																																																																																				0.421	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		114	332						114	332	---	---	---	---	T	23960715	-	T	23960714	7	5	91	1	0	1	1	0	0	0	0	0	13612	912	32	0	347	0	RPL15	3	23960714	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08		23960714	174061716	32	33729											
RPL14	9045	broad.mit.edu	37	chr3	40503613	40503613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcccagaaggttcctGcccagaaagccacaggccag	10	16	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:40503613G>A	ENST00000396203.2	+	6	670	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	RPL14_ENST00000338970.6_Missense_Mutation_p.A180T|RPL14_ENST00000416518.1_3'UTR	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	180	4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GAAGGTTCCTGCCCAGAAAGC	0.552																																						ENST00000396203.2																			0											c.(538-540)Gcc>Acc		ribosomal protein L14							18	18	18					3																	40503613		2202	4300	6502	SO:0001583	missense	9045				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:40503613G>A	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"L ribosomal proteins"	10305	protein-coding gene	gene with protein product	"CAG-ISL 7", "60S ribosomal protein L14"					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.538G>A	3.37:g.40503613G>A	ENSP00000379506:p.Ala180Thr					RPL14_ENST00000338970.6_Missense_Mutation_p.A180T|RPL14_ENST00000416518.1_3'UTR	p.A180T	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	6	670	+			180			4 X 5 AA tandem repeats of Q-K-A-[PAS]-X.		Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Missense_Mutation	SNP	ENST00000396203.2	37	c.538G>A	CCDS43070.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638177	0.29157	.	.	ENSG00000188846	ENST00000338970;ENST00000396203	T;T	0.51071	0.72;0.72	4.03	3.15	0.36227	.	0.000000	0.42821	U	0.000651	T	0.32194	0.0821	L	0.27053	0.805	0.22479	N	0.999065	B	0.02656	0.0	B	0.04013	0.001	T	0.27938	-1.0059	10	0.66056	D	0.02	.	8.253	0.31737	0.1159:0.0:0.8841:0.0	.	180	P50914	RL14_HUMAN	T	180	ENSP00000345156:A180T;ENSP00000379506:A180T	ENSP00000345156:A180T	A	+	1	0	RPL14	40478617	0.082000	0.21442	0.047000	0.18901	0.779000	0.44077	2.579000	0.46059	0.989000	0.38761	-0.154000	0.13518	GCC		0.552	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	NM_003973		50	162	0	0	0	0.000147903	0	50	162					A	40503613	G	A	40503613	3	1	91	1	0	0	0	0	1	0	0	0	13611	1319	46	2	567	2	RPL14	3	40503613	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	16542899	40503613	157518817	33	33730											
FAM116A	201627	broad.mit.edu	37	chr3	57616512	57616512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctcaagtgttttcaTaaattcttctggaagaaact	6	6	4	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:57616512T>A	ENST00000311128.5	-	17	1517	c.1447A>T	c.(1447-1449)Atg>Ttg	p.M483L	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	483					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)										AGTGTTTTCATAAATTCTTCT	0.353																																						ENST00000311128.5																			0											c.(1447-1449)Atg>Ttg		DENN/MADD domain containing 6A							86	85	85					3																	57616512		2203	4300	6503	SO:0001583	missense	201627							g.chr3:57616512T>A	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.1447A>T	3.37:g.57616512T>A	ENSP00000311401:p.Met483Leu					RP11-755B10.2_ENST00000470427.1_RNA	p.M483L	NM_152678.2	NP_689891.1					17	1517	-								Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1447A>T	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.816|9.816	1.184419|1.184419	0.21870|0.21870	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000471531	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.30262|0.30262	0.0759|0.0759	N|N	0.01624|0.01624	-0.795|-0.795	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.10450|.	0.005|.	T|T	0.36939|0.36939	-0.9727|-0.9727	9|5	0.02654|.	T|.	1|.	-2.1172|-2.1172	16.3939|16.3939	0.83550|0.83550	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	483|.	Q8IWF6|.	F116A_HUMAN|.	L|F	483|54	.|.	ENSP00000311401:M483L|.	M|Y	-|-	1|2	0|0	FAM116A|FAM116A	57591552|57591552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.698000|7.698000	0.84413|0.84413	2.276000|2.276000	0.75962|0.75962	0.455000|0.455000	0.32223|0.32223	ATG|TAT		0.353	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		8	492	0	0	0	1.12685e-05	0	8	492					A	57616512	T	A	57616512	3	1	91	1	0	0	0	0	1	0	0	0	5428	1406	49	5	395	5	FAM116A	3	57616512	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	17112899	57616512	140405918	34	33731											
IQCB1	9657	broad.mit.edu	37	chr3	121526279	121526279	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagtaaatgtaagaaatgatCactttgtagtactaaaggaa	8	4	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:121526279C>A	ENST00000310864.6	-	7	713	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	IQCB1_ENST00000349820.6_Missense_Mutation_p.D167Y	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	167					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		AAGAAATGATCACTTTGTAGT	0.308																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(499-501)Gat>Tat		IQ motif containing B1							113	112	113					3																	121526279		2203	4297	6500	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121526279C>A	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.499G>T	3.37:g.121526279C>A	ENSP00000311505:p.Asp167Tyr					IQCB1_ENST00000349820.6_Missense_Mutation_p.D167Y	p.D167Y	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	7	713	-			167					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.499G>T	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849869	0.51270	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.36520	1.25;2.89	5.2	5.2	0.72013	.	0.355758	0.34156	N	0.004215	T	0.41282	0.1152	L	0.27053	0.805	0.31110	N	0.710065	P;D	0.63046	0.91;0.992	B;P	0.56960	0.424;0.81	T	0.44605	-0.9317	10	0.72032	D	0.01	-6.9459	14.1128	0.65134	0.0:1.0:0.0:0.0	.	167;167	Q15051;Q15051-2	IQCB1_HUMAN;.	Y	167	ENSP00000311505:D167Y;ENSP00000323756:D167Y	ENSP00000311505:D167Y	D	-	1	0	IQCB1	123008969	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.598000	0.36740	2.706000	0.92434	0.557000	0.71058	GAT		0.308	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		19	906	1	0	9.7654e-05	9.7654e-05	0.00877795	19	906					A	121526279	C	A	121526279	3	1	91	1	0	0	0	0	1	0	0	0	7833	826	29	3	1333	3	IQCB1	3	121526279	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	63909767	121526279	76496151	35	33732											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	20	2	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		6	260	0	0	0	8.12818e-05	0	6	260					A	129695840	G	A	129695840	2	1	91	1	0	0	0	0	0	0	0	1	16531	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	8169561	129695840	68326590	36	33733											
NPHP3	27031	broad.mit.edu	37	chr3	132407536	132407536	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaagtgcttcaagttcaCgagcagtatatggatggtcc	11	8	2	0	rs200722938		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:132407536C>T	ENST00000337331.5	-	21	3169	c.3083G>A	c.(3082-3084)cGt>cAt	p.R1028H	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1028					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						TTCAAGTTCACGAGCAGTATA	0.388																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3082-3084)cGt>cAt		nephronophthisis 3 (adolescent)							105	112	110					3																	132407536		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132407536C>T	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.3083G>A	3.37:g.132407536C>T	ENSP00000338766:p.Arg1028His					NPHP3_ENST00000326682.8_3'UTR	p.R1028H	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			21	3169	-			1028					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3083G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683896	0.88639	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	T	0.64085	-0.08	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.72481	-0.4280	10	0.52906	T	0.07	-17.9717	19.5469	0.95302	0.0:1.0:0.0:0.0	.	1028	Q7Z494	NPHP3_HUMAN	H	308;90;1028	ENSP00000338766:R1028H	ENSP00000338766:R1028H	R	-	2	0	NPHP3	133890226	1.000000	0.71417	0.896000	0.35187	0.560000	0.35617	5.823000	0.69272	2.632000	0.89209	0.491000	0.48974	CGT		0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		75	802	0	0	0	0.000147903	0	75	802					T	132407536	C	T	132407536	3	4	91	1	0	0	0	0	1	0	0	0	10622	536	19	1	937	1	NPHP3	3	132407536	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	2711696	132407536	65614894	37	33734											
EIF4G1	1981	broad.mit.edu	37	chr3	184043334	184043334	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accagatccataaggaggctGagatggaagaacatcgagag	13	7	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:184043334G>A	ENST00000346169.2	+	20	3299	c.3028G>A	c.(3028-3030)Gag>Aag	p.E1010K	EIF4G1_ENST00000414031.1_Missense_Mutation_p.E970K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E814K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E924K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E846K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E815K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E923K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E971K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1017K|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E1011K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1010K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1017K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E847K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1010	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAAGGAGGCTGAGATGGAAGA	0.577																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3031-3033)Gag>Aag		eukaryotic translation initiation factor 4 gamma, 1							111	105	107					3																	184043334		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043334G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3028G>A	3.37:g.184043334G>A	ENSP00000316879:p.Glu1010Lys					EIF4G1_ENST00000346169.2_Missense_Mutation_p.E1010K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E924K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1010K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E971K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E846K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E970K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E923K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E814K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E815K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1017K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E847K	p.E1011K	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		19	3445	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1010			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3031G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293252	0.23564	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04706	3.82;3.81;3.73;3.81;3.6;3.81;3.74;3.82;3.82;3.81;3.81;3.6;3.57;3.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	L	0.44542	1.39	0.80722	D	1	B;B;B	0.25312	0.123;0.063;0.059	B;B;B	0.25506	0.061;0.019;0.019	T	0.20571	-1.0271	10	0.05833	T	0.94	-17.1574	19.4726	0.94969	0.0:0.0:1.0:0.0	.	1017;1011;1010	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	K	1010;970;923;1017;846;1017;924;1011;1010;1017;971;847;815;814	ENSP00000316879:E1010K;ENSP00000391935:E970K;ENSP00000376320:E923K;ENSP00000371767:E1017K;ENSP00000317600:E846K;ENSP00000338020:E1017K;ENSP00000407682:E924K;ENSP00000343450:E1011K;ENSP00000323737:E1010K;ENSP00000416255:E1017K;ENSP00000395974:E971K;ENSP00000399858:E847K;ENSP00000411826:E815K;ENSP00000404754:E814K	ENSP00000323737:E1010K	E	+	1	0	EIF4G1	185526028	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	6.342000	0.72982	2.618000	0.88619	0.561000	0.74099	GAG		0.577	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		8	624	0	0	0	5.18039e-06	0	8	624					A	184043334	G	A	184043334	3	1	91	1	0	0	0	0	1	0	0	0	5054	1291	45	2	3098	2	EIF4G1	3	184043334	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	51635798	184043334	13979096	38	33735											
ATP13A3	79572	broad.mit.edu	37	chr3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-													cgccactcaggcatccaataGaggaggaggaggagaaaccc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						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)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	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.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	677						7	677	---	---	---	---	-	194181473	GAG	-	194181471	7	5	91	1	0	1	0	1	0	0	0	0	1126	929	33	0	3659	0	ATP13A3	3	194181471	In_Frame_Del	DEL	GAG	TCGA-IB-A7M4-01A-11D-A36O-08	10138137	194181471	3840959	39	33736											
C3orf21	152002	broad.mit.edu	37	chr3	194790821	194790821	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgggggttctcatggcGgaactgccagaatgtgtgcc	16	9	2	1	rs371629665		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:194790821G>A	ENST00000310380.6	-	4	913	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	XXYLT1_ENST00000356740.5_Missense_Mutation_p.R63C|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.R66C|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R123C|XXYLT1_ENST00000437101.1_Missense_Mutation_p.R66C	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	269						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										TTCTCATGGCGGAACTGCCAG	0.667																																						ENST00000310380.6																			0											c.(805-807)Cgc>Tgc		xyloside xylosyltransferase 1		G	CYS/ARG	0,3786		0,0,1893	20	24	23		805	5.8	1	3		23	1,7983		0,1,3991	no	missense	C3orf21	NM_152531.4	180	0,1,5884	AA,AG,GG		0.0125,0.0,0.0085	probably-damaging	269/394	194790821	1,11769	1893	3992	5885	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790821G>A	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.805C>T	3.37:g.194790821G>A	ENSP00000309640:p.Arg269Cys					XXYLT1_ENST00000437101.1_Missense_Mutation_p.R66C|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000355729.4_Missense_Mutation_p.R66C|XXYLT1_ENST00000356740.5_Missense_Mutation_p.R63C|XXYLT1_ENST00000429994.1_Missense_Mutation_p.R123C	p.R269C	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN			4	913	-			269					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.805C>T	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225266	0.95173	0.0	1.25E-4	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.72953	-0.4135	10	0.59425	D	0.04	-15.37	19.0284	0.92944	0.0:0.0:1.0:0.0	.	269;66;63	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	C	269;66;66;123;63	ENSP00000309640:R269C;ENSP00000409865:R66C;ENSP00000347967:R66C;ENSP00000399422:R123C;ENSP00000349179:R63C	ENSP00000309640:R269C	R	-	1	0	C3orf21	196272110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.753000	0.98904	2.750000	0.94351	0.563000	0.77884	CGC		0.667	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		5	306	0	0	0	1.23904e-05	0	5	306					A	194790821	G	A	194790821	3	1	91	1	0	0	0	0	1	0	0	0	2221	1116	39	1	380	1	C3orf21	3	194790821	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	609350	194790821	3231609	40	33737											
RGS12	6002	broad.mit.edu	37	chr4	3319755	3319755	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttggtccccatcgaaatgttCgaaagactaaggaagataaa	9	7	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:3319755C>A	ENST00000344733.5	+	2	2762	c.1858C>A	c.(1858-1860)Cga>Aga	p.R620R	RGS12_ENST00000543385.1_Silent_p.R620R|RGS12_ENST00000382788.3_Silent_p.R620R|RGS12_ENST00000336727.3_Silent_p.R620R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	620					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)		TCGAAATGTTCGAAAGACTAA	0.582																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1858-1860)Cga>Aga		regulator of G-protein signaling 12							64	78	73					4																	3319755		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319755C>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1858C>A	4.37:g.3319755C>A						RGS12_ENST00000543385.1_Silent_p.R620R|RGS12_ENST00000344733.5_Silent_p.R620R|RGS12_ENST00000382788.3_Silent_p.R620R	p.R620R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	2762	+			620					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.1858C>A	CCDS3366.1																																																																																				0.582	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		10	535	1	0	2.17888e-05	2.17888e-05	0.0020179	10	535					A	3319755	C	A	3319755	2	1	91	1	0	0	0	0	0	0	0	1	13345	876	31	3		3	RGS12	4	3319755	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		3319755	187834521	41	33738											
ATOH1	474	broad.mit.edu	37	chr4	94750168	94750170	+	In_Frame_Del	DEL	CCG	CCG	-													agccgcatcatctcccgcaaCcgccgccgccgccgcagcca					rs553793713		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:94750168_94750170delCCG	ENST00000306011.3	+	1	127_129	c.91_93delCCG	c.(91-93)ccgdel	p.P35del		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	35	Poly-Pro.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TCTCCCGCAACCGCCGCCGCCGC	0.66																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(91-93)del		atonal homolog 1 (Drosophila)																																				SO:0001651	inframe_deletion	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750168_94750170delCCG	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.91_93delCCG	4.37:g.94750177_94750179delCCG	ENSP00000302216:p.Pro35del						p.P35del	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	127_129	+		Hepatocellular(203;0.114)	35			Poly-Pro.		Q14CT9	In_Frame_Del	DEL	ENST00000306011.3	37	c.91_93delCCG	CCDS3638.1																																																																																				0.66	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		8	163						8	163	---	---	---	---	-	94750170	CCG	-	94750168	7	5	91	1	0	1	0	1	0	0	0	0	1113	507	18	0	93	0	ATOH1	4	94750168	In_Frame_Del	DEL	CCG	TCGA-IB-A7M4-01A-11D-A36O-08	91430413	94750168	96404108	42	33739											
INTU	27152	broad.mit.edu	37	chr4	128626895	128626895	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcagcatcacctccgAcctttggcagactcaagcac	6	16	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:128626895A>G	ENST00000335251.6	+	11	1819	c.1716A>G	c.(1714-1716)cgA>cgG	p.R572R	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	572					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATCACCTCCGACCTTTGGCAG	0.448																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1714-1716)cgA>cgG		inturned planar cell polarity protein							151	141	144					4																	128626895		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128626895A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1716A>G	4.37:g.128626895A>G						INTU_ENST00000512995.1_3'UTR	p.R572R	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			11	1819	+			572					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.1716A>G	CCDS34061.1																																																																																				0.448	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		17	892	0	0	0	9.7654e-05	0	17	892					G	128626895	A	G	128626895	2	3	91	1	0	0	0	0	0	0	0	1	7816	262	10	4		4	INTU	4	128626895	Silent	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	33876727	128626895	62527381	43	33740											
PCDH10	57575	broad.mit.edu	37	chr4	134084224	134084224	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cttttgtcccttctgatggaCgccaggctgctgattatcgc	10	12	1	2	rs376447518		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:134084224C>G	ENST00000264360.5	+	4	3716	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	964					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)		TTCTGATGGACGCCAGGCTGC	0.522																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2890-2892)Cgc>Ggc		protocadherin 10							166	140	148					4																	134084224		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084224C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2890C>G	4.37:g.134084224C>G	ENSP00000264360:p.Arg964Gly						p.R964G	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3716	+			964					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2890C>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749340	0.69533	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	5.24	5.24	0.73138	.	0.000000	0.40302	N	0.001138	T	0.54854	0.1884	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.61232	-0.7104	10	0.40728	T	0.16	.	18.6158	0.91302	0.0:1.0:0.0:0.0	.	964	Q9P2E7	PCD10_HUMAN	G	964	ENSP00000264360:R964G	ENSP00000264360:R964G	R	+	1	0	PCDH10	134303674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.717000	0.92951	0.650000	0.86243	CGC		0.522	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	391	0	0	0	2.17888e-05	0	10	391					G	134084224	C	G	134084224	3	3	91	1	0	0	0	0	1	0	0	0	11549	536	19	5	2964	5	PCDH10	4	134084224	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	5457329	134084224	57070052	44	33741											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		11	421						11	421	---	---	---	---	-	146077125	CAG	-	146077123	7	5	91	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-IB-A7M4-01A-11D-A36O-08	11992899	146077123	45077153	45	33742											
LRBA	987	broad.mit.edu	37	chr4	151199141	151199141	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaggtactgcccatctcGgctcagctggatggcctgtg	14	12	2	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:151199141G>A	ENST00000357115.3	-	57	8608	c.8365C>T	c.(8365-8367)Cga>Tga	p.R2789*	LRBA_ENST00000535741.1_Nonsense_Mutation_p.R2778*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.R2777*|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2789						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)					TGCCCATCTCGGCTCAGCTGG	0.547																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8332-8334)Cga>Tga		LPS-responsive vesicle trafficking, beach and anchor containing							71	61	64					4																	151199141		2203	4300	6503	SO:0001587	stop_gained	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151199141G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8365C>T	4.37:g.151199141G>A	ENSP00000349629:p.Arg2789*					LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Nonsense_Mutation_p.R2789*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.R2777*	p.R2778*			P50851	LRBA_HUMAN			56	8805	-	all_hematologic(180;0.151)		2789					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	ENST00000357115.3	37	c.8332C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	51	18.130073	0.99899	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	.	.	.	5.23	4.38	0.52667	.	0.062472	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4711	0.67517	0.0:0.0:0.7348:0.2652	.	.	.	.	X	2778;2777;2789	.	ENSP00000349629:R2789X	R	-	1	2	LRBA	151418591	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.422000	0.44696	1.176000	0.42840	0.655000	0.94253	CGA		0.547	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			15	274	0	0	0	1.49906e-05	0	15	274					A	151199141	G	A	151199141	4	1	91	1	0	0	0	0	0	1	0	0	8969	1124	39	1	234	1	LRBA	4	151199141	Nonsense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	5122018	151199141	39955135	46	33743											
PET112L	5188	broad.mit.edu	37	chr4	152626389	152626389	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagaatttcacctccattctCaagttcattgatttgcctct	4	12	4	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:152626389C>A	ENST00000515812.1	-	6	803	c.787G>T	c.(787-789)Gag>Tag	p.E263*	PET112_ENST00000263985.6_Nonsense_Mutation_p.E304*|PET112_ENST00000512306.1_Nonsense_Mutation_p.E304*																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CCTCCATTCTCAAGTTCATTG	0.423																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(910-912)Gag>Tag		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						133	116	122					4																	152626389		2203	4300	6503	SO:0001587	stop_gained	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152626389C>A																												ENST00000515812.1:c.787G>T	4.37:g.152626389C>A	ENSP00000426859:p.Glu263*					PET112_ENST00000512306.1_Nonsense_Mutation_p.E304*|PET112_ENST00000515812.1_Nonsense_Mutation_p.E263*	p.E304*	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			7	950	-			304						Nonsense_Mutation	SNP	ENST00000515812.1	37	c.910G>T		.	.	.	.	.	.	.	.	.	.	C	19.57	3.852552	0.71719	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	.	.	.	5.39	4.52	0.55395	.	0.059821	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.4467	16.1726	0.81828	0.0:0.8671:0.1329:0.0	.	.	.	.	X	304;263;304	.	ENSP00000263985:E304X	E	-	1	0	PET112	152845839	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.903000	0.48711	2.514000	0.84764	0.655000	0.94253	GAG		0.423	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			5	304	1	0	1.23904e-05	1.23904e-05	0.0011545	5	304					A	152626389	C	A	152626389	4	1	91	1	0	0	0	0	0	1	0	0	11776	835	29	3	791	3	PET112L	4	152626389	Nonsense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	1427248	152626389	38527887	47	33744											
ODZ3	55714	broad.mit.edu	37	chr4	183714508	183714508	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctggacagtgatctaccGttatgacggcctgggaaggc	15	9	1	2	rs201200379	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:183714508G>A	ENST00000511685.1	+	26	6806	c.6683G>A	c.(6682-6684)cGt>cAt	p.R2228H	TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2228					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)	p.R2228H(1)									GTGATCTACCGTTATGACGGC	0.463													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18725	0.0		0.001	False		,,,				2504	0.0					ENST00000511685.1																			1	Substitution - Missense(1)	p.R2228H(1)	large_intestine(1)								c.(6682-6684)cGt>cAt		teneurin transmembrane protein 3							78	80	79					4																	183714508		1898	4121	6019	SO:0001583	missense	55714							g.chr4:183714508G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6683G>A	4.37:g.183714508G>A	ENSP00000424226:p.Arg2228His					TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H	p.R2228H							26	6806	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.6683G>A	CCDS47165.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.04	1.242130	0.22796	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86694	-2.16;-2.16	4.65	4.65	0.58169	.	.	.	.	.	D	0.93223	0.7841	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.91401	0.5143	9	0.15952	T	0.53	.	17.7429	0.88412	0.0:0.0:1.0:0.0	.	2228	Q9P273	TEN3_HUMAN	H	2228	ENSP00000424226:R2228H;ENSP00000385276:R2228H	ENSP00000385276:R2228H	R	+	2	0	ODZ3	183951502	1.000000	0.71417	0.900000	0.35374	0.648000	0.38561	7.767000	0.85331	2.417000	0.82017	0.563000	0.77884	CGT		0.463	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			18	247	0	0	0	9.7654e-05	0	18	247					A	183714508	G	A	183714508	3	1	91	1	0	0	0	0	1	0	0	0	10878	1145	40	1	6781	1	ODZ3	4	183714508	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	31088119	183714508	7439768	48	33745											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	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.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		14	1618						14	1618	---	---	---	---	-	24492973	A	-	24492973	7	5	91	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-IB-A7M4-01A-11D-A36O-08		24492973	156422287	49	33746											
CCDC125	202243	broad.mit.edu	37	chr5	68606995	68606995	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tttacctctgagttgtctttGagatgcctcaagttcagttt	8	8	4	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:68606995G>C	ENST00000396496.2	-	4	510	c.403C>G	c.(403-405)Caa>Gaa	p.Q135E	CCDC125_ENST00000396499.1_Missense_Mutation_p.Q135E|CCDC125_ENST00000383374.2_Missense_Mutation_p.Q134E|CCDC125_ENST00000511257.1_Missense_Mutation_p.Q10E|CCDC125_ENST00000460090.1_Intron			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	135						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AGTTGTCTTTGAGATGCCTCA	0.333																																						ENST00000396496.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19						c.(403-405)Caa>Gaa		coiled-coil domain containing 125							135	124	128					5																	68606995		2203	4298	6501	SO:0001583	missense	202243					cytoplasm		g.chr5:68606995G>C	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.403C>G	5.37:g.68606995G>C	ENSP00000379754:p.Gln135Glu					CCDC125_ENST00000511257.1_Missense_Mutation_p.Q10E|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000396499.1_Missense_Mutation_p.Q135E|CCDC125_ENST00000383374.2_Missense_Mutation_p.Q134E	p.Q135E			Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	4	510	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	135					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.403C>G	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053710	0.55218	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.48	5.48	0.80851	.	0.059297	0.64402	D	0.000002	T	0.59432	0.2193	L	0.32530	0.975	0.35876	D	0.828574	D;B	0.71674	0.998;0.116	D;B	0.80764	0.994;0.103	T	0.67734	-0.5594	10	0.66056	D	0.02	-26.8695	16.8811	0.86063	0.0:0.0:1.0:0.0	.	10;135	Q86Z20-2;Q86Z20	.;CC125_HUMAN	E	135;135;134;10	ENSP00000379754:Q135E;ENSP00000379756:Q135E;ENSP00000372865:Q134E;ENSP00000426795:Q10E	ENSP00000372865:Q134E	Q	-	1	0	CCDC125	68642751	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.969000	0.70422	2.588000	0.87417	0.485000	0.47835	CAA		0.333	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		5	255	0	0	0	3.59834e-05	0	5	255					C	68606995	G	C	68606995	3	2	91	1	0	0	0	0	1	0	0	0	2768	1299	45	5	1168	5	CCDC125	5	68606995	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	44114022	68606995	112308265	50	33747											
RASGRF2	5924	broad.mit.edu	37	chr5	80376464	80376464	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacatttatcaagaattTgtgcgtaatcaccagtacag	7	8	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80376464T>G	ENST00000265080.4	+	7	1084	c.1017T>G	c.(1015-1017)ttT>ttG	p.F339L	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	339	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|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)		ATCAAGAATTTGTGCGTAATC	0.403																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1015-1017)ttT>ttG		Ras protein-specific guanine nucleotide-releasing factor 2							108	105	106					5																	80376464		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80376464T>G	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.1017T>G	5.37:g.80376464T>G	ENSP00000265080:p.Phe339Leu					RASGRF2_ENST00000502677.1_3'UTR	p.F339L	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	7	1084	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	339			DH.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1017T>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090469	0.94149	.	.	ENSG00000113319	ENST00000265080	T	0.68181	-0.31	5.7	4.55	0.56014	Dbl homology (DH) domain (5);	0.095640	0.85682	D	0.000000	T	0.75072	0.3800	L	0.50333	1.59	0.58432	D	0.999995	D;D	0.76494	0.999;0.994	D;D	0.69307	0.963;0.933	T	0.76160	-0.3061	10	0.72032	D	0.01	.	11.4093	0.49917	0.0:0.0702:0.0:0.9298	.	339;339	D6RAS9;O14827	.;RGRF2_HUMAN	L	339	ENSP00000265080:F339L	ENSP00000265080:F339L	F	+	3	2	RASGRF2	80412220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.483000	0.53194	1.006000	0.39211	0.459000	0.35465	TTT		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		49	706	0	0	0	0.000147903	0	49	706					G	80376464	T	G	80376464	3	3	91	1	0	0	0	0	1	0	0	0	13123	1809	63	4	1043	4	RASGRF2	5	80376464	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	11769469	80376464	100538796	51	33748											
ACOT12	134526	broad.mit.edu	37	chr5	80640798	80640798	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcactgttgatgtgaCgccctcggccctcggcccat	11	14	0	2	rs199564842		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80640798C>T	ENST00000307624.3	-	8	864	c.836G>A	c.(835-837)cGt>cAt	p.R279H	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	279	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTTGATGTGACGCCCTCGGCC	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19431	0.0		0.0	False		,,,				2504	0.0					ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(835-837)cGt>cAt		acyl-CoA thioesterase 12							115	109	111					5																	80640798		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80640798C>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.836G>A	5.37:g.80640798C>T	ENSP00000303246:p.Arg279His						p.R279H	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	8	864	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	279			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.836G>A	CCDS4055.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.7	4.451499	0.84209	.	.	ENSG00000172497	ENST00000307624	T	0.32753	1.44	5.53	4.64	0.57946	.	0.131978	0.52532	D	0.000073	T	0.57932	0.2087	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.65067	-0.6258	10	0.87932	D	0	-19.3255	15.1428	0.72623	0.0:0.8576:0.1424:0.0	.	279	Q8WYK0	ACO12_HUMAN	H	279	ENSP00000303246:R279H	ENSP00000303246:R279H	R	-	2	0	ACOT12	80676554	1.000000	0.71417	0.454000	0.27019	0.882000	0.50991	6.380000	0.73158	1.301000	0.44836	0.561000	0.74099	CGT		0.493	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		65	266	0	0	0	0.000147903	0	65	266					T	80640798	C	T	80640798	3	4	91	1	0	0	0	0	1	0	0	0	150	536	19	1	863	1	ACOT12	5	80640798	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	264334	80640798	100274462	52	33749											
SEMA6A	57556	broad.mit.edu	37	chr5	115782948	115782948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagccctgctgcgtgatgggCaggaccaccacgctggggat	15	12	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:115782948C>T	ENST00000343348.6	-	19	3241	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	SEMA6A_ENST00000513137.1_Silent_p.L245L|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.L295L|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.L197L|SEMA6A_ENST00000257414.8_Silent_p.L835L|SEMA6A_ENST00000510263.1_Silent_p.L818L	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	818	Pro-rich.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCGTGATGGGCAGGACCACCA	0.662																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2452-2454)ctG>ctA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							77	79	79					5																	115782948		2058	4198	6256	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782948C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2454G>A	5.37:g.115782948C>T						SEMA6A_ENST00000510263.1_Silent_p.L818L|SEMA6A_ENST00000257414.8_Silent_p.L835L|SEMA6A_ENST00000282394.6_Silent_p.L295L|SEMA6A_ENST00000513137.1_Silent_p.L245L|SEMA6A_ENST00000503865.1_Silent_p.L197L	p.L818L	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3241	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	818			Pro-rich.		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2454G>A	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	2.211	-0.380738	0.05000	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.11	2.34	0.29019	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49273	-0.8957	4	.	.	.	.	9.5769	0.39463	0.3536:0.5783:0.0:0.0681	.	.	.	.	Y	333	.	.	C	-	2	0	SEMA6A	115810847	0.999000	0.42202	0.997000	0.53966	0.854000	0.48673	0.742000	0.26216	-0.041000	0.13558	-2.997000	0.00077	TGC		0.662	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		37	466	0	0	0	8.91981e-05	0	37	466					T	115782948	C	T	115782948	2	4	91	1	0	0	0	0	0	0	0	1	14089	697	25	2		2	SEMA6A	5	115782948	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	35142150	115782948	65132312	53	33750											
DMXL1	1657	broad.mit.edu	37	chr5	118506551	118506551	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttttaaatccatcagaagAtataattgcagttcagttaa	5	7	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:118506551A>C	ENST00000311085.8	+	24	6145	c.6065A>C	c.(6064-6066)gAt>gCt	p.D2022A	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2022A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2022										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)		CCATCAGAAGATATAATTGCA	0.313																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6064-6066)gAt>gCt		Dmx-like 1							45	49	48					5																	118506551		2202	4298	6500	SO:0001583	missense	1657							g.chr5:118506551A>C	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.6065A>C	5.37:g.118506551A>C	ENSP00000309690:p.Asp2022Ala					DMXL1_ENST00000539542.1_Missense_Mutation_p.D2022A	p.D2022A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	24	6145	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2022						Missense_Mutation	SNP	ENST00000311085.8	37	c.6065A>C	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749710	0.69533	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.77750	-1.12;-1.12	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91353	0.5106	10	0.87932	D	0	-19.8717	15.606	0.76672	1.0:0.0:0.0:0.0	.	2022;2022	F5H269;Q9Y485	.;DMXL1_HUMAN	A	2022	ENSP00000309690:D2022A;ENSP00000439479:D2022A	ENSP00000309690:D2022A	D	+	2	0	DMXL1	118534450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.083000	0.62718	0.455000	0.32223	GAT		0.313	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		63	276	0	0	0	0.000147903	0	63	276					C	118506551	A	C	118506551	3	2	91	1	0	0	0	0	1	0	0	0	4610	333	12	4	6159	4	DMXL1	5	118506551	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	2723603	118506551	62408709	54	33751											
FTMT	94033	broad.mit.edu	37	chr5	121188177	121188177	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagaacgtgaaccagtcGttgctggaattgcacgctct	11	9	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121188177G>A	ENST00000321339.1	+	1	528	c.519G>A	c.(517-519)tcG>tcA	p.S173S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	173	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)		TGAACCAGTCGTTGCTGGAAT	0.517																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(517-519)tcG>tcA		ferritin mitochondrial							130	120	123					5																	121188177		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188177G>A	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.519G>A	5.37:g.121188177G>A							p.S173S	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	528	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	173			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.519G>A	CCDS4128.1																																																																																				0.517	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		32	513	0	0	0	3.70037e-05	0	32	513					A	121188177	G	A	121188177	2	1	91	1	0	0	0	0	0	0	0	1	6112	1132	40	1		1	FTMT	5	121188177	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	2681626	121188177	59727083	55	33752											
LOX	4015	broad.mit.edu	37	chr5	121409724	121409724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacctgtgtgtgtgcagtaCatgcaaatcgcctgtggtag	12	8	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121409724C>T	ENST00000231004.4	-	4	1318	c.1019G>A	c.(1018-1020)tGt>tAt	p.C340Y	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	340	Lysyl-oxidase like.				blood vessel development (GO:0001568)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|wound healing (GO:0042060)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GTGTGCAGTACATGCAAATCG	0.478																																						ENST00000231004.4																			0				endometrium(1)|lung(6)|prostate(1)	8						c.(1018-1020)tGt>tAt		lysyl oxidase							194	183	187					5																	121409724		2203	4300	6503	SO:0001583	missense	4015				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	g.chr5:121409724C>T		CCDS4129.1	5q23.3-q31.2	2008-02-05			ENSG00000113083	ENSG00000113083	1.4.3.13		6664	protein-coding gene	gene with protein product		153455				1685472	Standard	NM_002317		Approved		uc003ksu.3	P28300	OTTHUMG00000128914	ENST00000231004.4:c.1019G>A	5.37:g.121409724C>T	ENSP00000231004:p.Cys340Tyr					SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	p.C340Y	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)	4	1318	-		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	340			Lysyl-oxidase like.		B2R5Q3|Q5FWF0	Missense_Mutation	SNP	ENST00000231004.4	37	c.1019G>A	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811350	0.90707	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.45668	0.89	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81088	-0.1091	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	340	P28300	LYOX_HUMAN	Y	340;300	ENSP00000231004:C340Y	ENSP00000231004:C340Y	C	-	2	0	LOX	121437623	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	7.487000	0.81328	2.835000	0.97688	0.650000	0.86243	TGT		0.478	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2			58	888	0	0	0	0.000147903	0	58	888					T	121409724	C	T	121409724	3	4	91	1	0	0	0	0	1	0	0	0	8936	478	17	2	250	2	LOX	5	121409724	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	221547	121409724	59505536	56	33753											
VDAC1	7416	broad.mit.edu	37	chr5	133316639	133316639	+	Frame_Shift_Del	DEL	T	T	-													accctgtcttgattttagcaTtttttttcctgaaggaaaat							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:133316639delT	ENST00000265333.3	-	6	576	c.332delA	c.(331-333)aatfs	p.N111fs	VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	111					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	GATTTTAGCATTTTTTTTCCT	0.403																																					NSCLC(127;1776 1806 35523 41489 48154)	ENST00000265333.3																			0				endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(331-333)atfs		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						51	56	54					5																	133316639		2203	4300	6503	SO:0001589	frameshift_variant	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133316639delT		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.332delA	5.37:g.133316639delT	ENSP00000265333:p.Asn111fs					VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs	p.N111fs	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	576	-			111					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Frame_Shift_Del	DEL	ENST00000265333.3	37	c.332delA	CCDS4168.1																																																																																				0.403	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			7	282						7	282	---	---	---	---	-	133316639	T	-	133316639	7	5	91	1	0	1	0	1	0	0	0	0	17200	1493	52	0	535	0	VDAC1	5	133316639	Frame_Shift_Del	DEL	T	TCGA-IB-A7M4-01A-11D-A36O-08	11906915	133316639	47598621	57	33754											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaccagaacgacaacgCgcccgagatcctgtaccctg	11	15	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:140720214C>T	ENST00000394576.2	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)			AACGACAACGCGCCCGAGATC	0.622																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1675-1677)gCg>gTg									152	153	152					5																	140720214		2203	4300	6503	SO:0001583	missense	0							g.chr5:140720214C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1676C>T	5.37:g.140720214C>T	ENSP00000378077:p.Ala559Val					PCDHGA1_ENST00000517417.1_Intron	p.A559V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1676	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1676C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.268	0.606631	0.14002	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	1.19	0.21007	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	U	0.808345	T	0.07007	0.0178	M	0.69185	2.1	0.09310	N	1	B;B	0.22541	0.005;0.071	B;B	0.24394	0.053;0.033	T	0.41016	-0.9532	10	0.44086	T	0.13	.	10.0865	0.42421	0.0:0.7185:0.0:0.2815	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	559	ENSP00000378077:A559V	ENSP00000378077:A559V	A	+	2	0	PCDHGA2	140700398	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.115000	0.15540	0.005000	0.14708	-0.225000	0.12378	GCG		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		45	817	0	0	0	8.96297e-05	0	45	817					T	140720214	C	T	140720214	3	4	91	1	0	0	0	0	1	0	0	0	11596	768	27	1	1678	1	PCDHGA2	5	140720214	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7403575	140720214	40195046	58	33755											
SPRY4	81848	broad.mit.edu	37	chr5	141694361	141694363	+	In_Frame_Del	DEL	TGC	TGC	-													gagccgttggtcagaggatgTgctgctgctgctgctcacag							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:141694361_141694363delTGC	ENST00000434127.2	-	2	554_556	c.311_313delGCA	c.(310-315)agcaca>aca	p.S104del	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_In_Frame_Del_p.S127del	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	104	Poly-Ser.				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)			TCAGAGGATGTGCTGCTGCTGCT	0.66									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(379-384)aca>a		sprouty homolog 4 (Drosophila)																																				SO:0001651	inframe_deletion	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694361_141694363delTGC	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.311_313delGCA	5.37:g.141694370_141694372delTGC	ENSP00000399468:p.Ser104del					SPRY4_ENST00000434127.2_In_Frame_Del_p.ST104del	p.ST127del	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	566_568	-		all_hematologic(541;0.118)	104					A4FVB2|A4FVB3|Q6QIX2|Q9C003	In_Frame_Del	DEL	ENST00000434127.2	37	c.380_382delGCA	CCDS47296.1																																																																																				0.66	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			8	500						8	500	---	---	---	---	-	141694363	TGC	-	141694361	7	5	91	1	0	1	0	1	0	0	0	0	15160	1696	59	0	590	0	SPRY4	5	141694361	In_Frame_Del	DEL	TGC	TCGA-IB-A7M4-01A-11D-A36O-08	974147	141694361	39220899	59	33756											
PHACTR1	221692	broad.mit.edu	37	chr6	13273094	13273094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggattttttccgtaggcGgctgagccagaggccaactg	13	11	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:13273094G>A	ENST00000379350.1	+	10	1523	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	PHACTR1_ENST00000379335.3_Missense_Mutation_p.R29Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R465Q|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R29Q|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R320Q|RP1-257A7.4_ENST00000606627.1_RNA|RP1-257A7.4_ENST00000399446.2_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	465					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)			TTCCGTAGGCGGCTGAGCCAG	0.483																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(1393-1395)cGg>cAg		phosphatase and actin regulator 1							205	210	209					6																	13273094		1889	4116	6005	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13273094G>A	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.1394G>A	6.37:g.13273094G>A	ENSP00000368655:p.Arg465Gln					RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R320Q|PHACTR1_ENST00000379335.3_Missense_Mutation_p.R29Q|PHACTR1_ENST00000379329.1_Missense_Mutation_p.R29Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R465Q	p.R465Q			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		10	1523	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	465					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.1394G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.030241|6.030241	0.97216|0.97216	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	.|T;T;T	.|0.56941	.|0.43;1.11;1.18	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72851|0.72851	0.3512|0.3512	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.91635	.|0.999;0.947	T|T	0.75536|0.75536	-0.3283|-0.3283	5|10	.|0.87932	.|D	.|0	-14.4638|-14.4638	19.29|19.29	0.94095|0.94095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|465;465	.|Q9C0D0;Q9C0D0-2	.|PHAR1_HUMAN;.	S|Q	300|465;465;320;29;29	.|ENSP00000368655:R465Q;ENSP00000329880:R465Q;ENSP00000397669:R320Q	.|ENSP00000329880:R465Q	G|R	+|+	1|2	0|0	PHACTR1|PHACTR1	13381073|13381073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	8.473000|8.473000	0.90410|0.90410	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.483	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		38	783	0	0	0	4.2857e-05	0	38	783					A	13273094	G	A	13273094	3	1	91	1	0	0	0	0	1	0	0	0	11851	1116	39	1	1428	1	PHACTR1	6	13273094	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		13273094	157841973	60	33757											
CYP21A2	1590	broad.mit.edu	37	chr6	31975223	31975224	+	5'Flank	INS	-	-	T													caccctctcctgggccgtggINSttttttttgcttcaccaccc					rs369404825		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				9	414						9	414	---	---	---	---	T	31975224	-	T	31975223	6	5	91	0	1	1	1	0	0	0	0	0	4164	1261	44	0		0	CYP21A2	6	31975223	5'Flank	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	18702129	31975223	139139844	61	33758											
TNXB	7148	broad.mit.edu	37	chr6	32023903	32023903	+	Frame_Shift_Del	DEL	G	G	-													gcggctcctcagggggctccGgggcctcagtgctgagttcc					rs440160	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:32023903delG	ENST00000375244.3	-	24	8393	c.8192delC	c.(8191-8193)ccgfs	p.P2731fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.P2731fs			P22105	TENX_HUMAN	tenascin XB	2789	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGGCTCCGGGGCCTCAGT	0.642																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8191-8193)cgfs		tenascin XB							40	47	45					6																	32023903		1192	2501	3693	SO:0001589	frameshift_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32023903delG	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.8192delC	6.37:g.32023903delG	ENSP00000364393:p.Pro2731fs					TNXB_ENST00000375247.2_Frame_Shift_Del_p.P2731fs	p.P2731fs			P22105	TENX_HUMAN			24	8393	-			2789			Fibronectin type-III 19.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	ENST00000375244.3	37	c.8192delC																																																																																					0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		78	244						78	244	---	---	---	---	-	32023903	G	-	32023903	7	5	91	1	0	1	0	1	0	0	0	0	16398	1116	39	0	6605	0	TNXB	6	32023903	Frame_Shift_Del	DEL	G	TCGA-IB-A7M4-01A-11D-A36O-08	48680	32023903	139091164	62	33759											
CPNE5	57699	broad.mit.edu	37	chr6	36710085	36710085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacgcagggggcgtgcggGctggggactgcgagggcgag	25	8	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:36710085G>A	ENST00000244751.2	-	21	2366	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	CPNE5_ENST00000393189.2_Missense_Mutation_p.A289V|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	581						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						GGGCGTGCGGGCTGGGGACTG	0.682																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1741-1743)gCc>gTc		copine V							41	44	43					6																	36710085		2201	4299	6500	SO:0001583	missense	57699							g.chr6:36710085G>A	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.1742C>T	6.37:g.36710085G>A	ENSP00000244751:p.Ala581Val					CPNE5_ENST00000393189.2_Missense_Mutation_p.A289V|CPNE5_ENST00000459703.1_5'UTR	p.A581V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			21	2366	-			581					Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1742C>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444369	0.43429	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.12039	3.51;2.72	4.6	2.8	0.32819	.	0.243896	0.41823	D	0.000812	T	0.02970	0.0088	L	0.36672	1.1	0.27941	N	0.937519	B	0.06786	0.001	B	0.04013	0.001	T	0.42481	-0.9449	10	0.29301	T	0.29	.	6.038	0.19718	0.1033:0.1925:0.7042:0.0	.	581	Q9HCH3	CPNE5_HUMAN	V	581;289	ENSP00000244751:A581V;ENSP00000376885:A289V	ENSP00000244751:A581V	A	-	2	0	CPNE5	36818063	0.057000	0.20700	0.864000	0.33941	0.739000	0.42172	0.598000	0.24074	0.551000	0.29008	0.561000	0.74099	GCC		0.682	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		45	281	0	0	0	0.000147903	0	45	281					A	36710085	G	A	36710085	3	1	91	1	0	0	0	0	1	0	0	0	3824	1203	42	2	43	2	CPNE5	6	36710085	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	4686182	36710085	134404982	63	33760											
KLHDC3	116138	broad.mit.edu	37	chr6	42985680	42985680	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctaggcaagatcatgTacatttttgggggctacgag	13	7	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:42985680T>C	ENST00000326974.4	+	4	616	c.421T>C	c.(421-423)Tac>Cac	p.Y141H	KLHDC3_ENST00000332245.8_Missense_Mutation_p.Y82H|KLHDC3_ENST00000244670.8_Intron	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	141					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)			CAAGATCATGTACATTTTTGG	0.512																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(421-423)Tac>Cac		kelch domain containing 3							119	115	117					6																	42985680		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42985680T>C	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.421T>C	6.37:g.42985680T>C	ENSP00000313995:p.Tyr141His					KLHDC3_ENST00000244670.8_Intron|KLHDC3_ENST00000332245.8_Missense_Mutation_p.Y82H	p.Y141H	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	616	+			141					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.421T>C	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033569	0.75504	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116;ENST00000332245	T;T	0.24350	1.86;1.86	5.15	5.15	0.70609	Kelch-type beta propeller (1);	0.065520	0.64402	D	0.000006	T	0.61590	0.2359	H	0.98276	4.19	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.73708	0.981;0.981;0.981	T	0.78833	-0.2048	10	0.87932	D	0	.	14.9695	0.71223	0.0:0.0:0.0:1.0	.	141;82;141	E7ENU0;E7ERR0;Q9BQ90	.;.;KLDC3_HUMAN	H	141;141;141;114;82	ENSP00000313995:Y141H;ENSP00000331562:Y82H	ENSP00000313995:Y141H	Y	+	1	0	KLHDC3	43093658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.693000	0.84214	1.950000	0.56595	0.459000	0.35465	TAC		0.512	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		8	560	0	0	0	1.12685e-05	0	8	560					C	42985680	T	C	42985680	3	2	91	1	0	0	0	0	1	0	0	0	8387	1638	57	4	431	4	KLHDC3	6	42985680	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	6275595	42985680	128129387	64	33761											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	103	0	0	0	1.23904e-05	0	4	103					G	45390466	A	G	45390466	2	3	91	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	2404786	45390466	125724601	65	33762											
C6orf138	442213	broad.mit.edu	37	chr6	47847617	47847617	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctgtctttgaagggcaagttCtctttggttctccgccatcc	9	12	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:47847617C>G	ENST00000339488.4	-	3	996	c.963G>C	c.(961-963)gaG>gaC	p.E321D		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	321	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGGGCAAGTTCTCTTTGGTTC	0.408																																						ENST00000339488.4																			0											c.(961-963)gaG>gaC		patched domain containing 4							28	30	29					6																	47847617		2203	4299	6502	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47847617C>G		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.963G>C	6.37:g.47847617C>G	ENSP00000341914:p.Glu321Asp						p.E321D	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	996	-			321			SSD.		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.963G>C	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590712	0.46214	.	.	ENSG00000244694	ENST00000339488	D	0.85556	-2.0	5.25	3.4	0.38934	Sterol-sensing domain (1);	.	.	.	.	T	0.81922	0.4925	L	0.60455	1.87	0.80722	D	1	D	0.59357	0.985	P	0.62382	0.901	T	0.78727	-0.2091	9	0.15066	T	0.55	.	9.8435	0.41013	0.0:0.7601:0.0:0.2399	.	321	Q6ZW05	CF138_HUMAN	D	321	ENSP00000341914:E321D	ENSP00000341914:E321D	E	-	3	2	C6orf138	47955576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.349000	0.33998	0.554000	0.29061	0.650000	0.86243	GAG		0.408	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		7	64	0	0	0	8.12818e-05	0	7	64					G	47847617	C	G	47847617	3	3	91	1	0	0	0	0	1	0	0	0	2339	912	32	5	1581	5	C6orf138	6	47847617	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	2457151	47847617	123267450	66	33763											
DST	667	broad.mit.edu	37	chr6	56325048	56325048	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcttccttgtattggcGttccctgtatttaaccagca	8	11	0	0	rs532258725	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:56325048G>A	ENST00000361203.3	-	97	22011	c.22004C>T	c.(22003-22005)aCg>aTg	p.T7335M	DST_ENST00000421834.2_Missense_Mutation_p.T5331M|DST_ENST00000446842.2_Missense_Mutation_p.T7120M|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.T7446M|DST_ENST00000370788.2_Missense_Mutation_p.T5249M|DST_ENST00000244364.6_Missense_Mutation_p.T5045M|DST_ENST00000370754.5_Missense_Mutation_p.T7624M			Q03001	DYST_HUMAN	dystonin	7444	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				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)			TTGTATTGGCGTTCCCTGTAT	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		18635	0.002		0.0	False		,,,				2504	0.0					ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(22870-22872)aCg>aTg		dystonin							94	95	95					6																	56325048		1915	4128	6043	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56325048G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22004C>T	6.37:g.56325048G>A	ENSP00000354508:p.Thr7335Met					DST_ENST00000361203.3_Missense_Mutation_p.T7335M|DST_ENST00000370788.2_Missense_Mutation_p.T5249M|DST_ENST00000421834.2_Missense_Mutation_p.T5331M|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.T7446M|DST_ENST00000244364.6_Missense_Mutation_p.T5045M|DST_ENST00000446842.2_Missense_Mutation_p.T7120M	p.T7624M			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		101	22870	-	Lung NSC(77;0.103)		7444					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.22871C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.352831|4.352831	0.82132|0.82132	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.65732	.|0.71;-0.16;-0.17;-0.07;0.78;-0.04;-0.11	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.73590|0.73590	0.3606|0.3606	L|L	0.55481|0.55481	1.735|1.735	.|.	.|.	.|.	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.972;0.999;0.999;0.993	.|D;D;D;D;P;P;P;P	.|0.87578	.|0.998;0.996;0.994;0.998;0.503;0.802;0.891;0.73	T|T	0.70085|0.70085	-0.4969|-0.4969	4|9	.|0.49607	.|T	.|0.09	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5331;7446;7624;7444;5045;132;132;5249	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	C|M	133|5045;7624;7446;5331;7120;5249;7335	.|ENSP00000244364:T5045M;ENSP00000359790:T7624M;ENSP00000359805:T7446M;ENSP00000400883:T5331M;ENSP00000393645:T7120M;ENSP00000359824:T5249M;ENSP00000354508:T7335M	.|ENSP00000244364:T5045M	R|T	-|-	1|2	0|0	DST|DST	56433007|56433007	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.996000|0.996000	0.88848|0.88848	7.542000|7.542000	0.82095|0.82095	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		82	245	0	0	0	0.000147903	0	82	245					A	56325048	G	A	56325048	3	1	91	1	0	0	0	0	1	0	0	0	4799	1145	40	1	389	1	DST	6	56325048	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	8477431	56325048	114790019	67	33764											
KCNQ5	56479	broad.mit.edu	37	chr6	73904417	73904417	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcagttcattctgacGccaaatgagttcagtgccca	10	12	3	2	rs546835876		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:73904417G>A	ENST00000370398.1	+	14	2188	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	KCNQ5_ENST00000402622.2_Silent_p.T703T|KCNQ5_ENST00000355194.4_Silent_p.T693T|KCNQ5_ENST00000355635.3_Silent_p.T694T|KCNQ5_ENST00000414165.2_Silent_p.T583T|KCNQ5_ENST00000342056.2_Silent_p.T712T|KCNQ5_ENST00000403813.2_Silent_p.T684T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	693					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)	TCATTCTGACGCCAAATGAGT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20969	0.0		0.0	False		,,,				2504	0.001				GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				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						c.(2134-2136)acG>acA		potassium voltage-gated channel, KQT-like subfamily, member 5							129	129	129					6																	73904417		2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73904417G>A	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.2079G>A	6.37:g.73904417G>A						KCNQ5_ENST00000355194.4_Silent_p.T693T|KCNQ5_ENST00000414165.2_Silent_p.T583T|KCNQ5_ENST00000355635.3_Silent_p.T694T|KCNQ5_ENST00000370398.1_Silent_p.T693T|KCNQ5_ENST00000403813.2_Silent_p.T684T|KCNQ5_ENST00000402622.2_Silent_p.T703T	p.T712T	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	15	2534	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	693					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.2136G>A	CCDS4976.1																																																																																				0.502	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		116	420	0	0	0	0.000147903	0	116	420					A	73904417	G	A	73904417	2	1	91	1	0	0	0	0	0	0	0	1	8116	1074	38	1		1	KCNQ5	6	73904417	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	17579369	73904417	97210650	68	33765											
AKD1	221264	broad.mit.edu	37	chr6	109980432	109980434	+	Splice_Site	DEL	TCT	TCT	-													ttacctattgagatattaccTcttcttcttcttgctcttct							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:109980432_109980434delTCT	ENST00000424296.2	-	7	703_705	c.627_629delAGA	c.(625-630)gaagag>gag	p.209_210EE>E	AK9_ENST00000285397.5_Splice_Site_p.209_210EE>E|AK9_ENST00000368948.2_Splice_Site_p.209_210EE>E|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	209	Adenylate kinase 1.|Glu-rich.				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)										AGATATTACCtcttcttcttctt	0.35																																						ENST00000424296.2																			0											c.e7+1		adenylate kinase 9			,	17,4247		0,17,2115					,	4.4	1			142	11,8243		0,11,4116	no	coding-near-splice,coding-near-splice	AKD1	NM_145025.4,NM_001145128.2	,	0,28,6231	A1A1,A1R,RR		0.1333,0.3987,0.2237	,	,		28,12490				SO:0001630	splice_region_variant	221264							g.chr6:109980432_109980434delTCT	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.630+1AGA>-	6.37:g.109980441_109980443delTCT						AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Splice_Site_p.EE209_splice|AK9_ENST00000285397.5_Splice_Site_p.EE209_splice	p.EE209_splice	NM_001145128.2	NP_001138600.2					7	703_705	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	DEL	ENST00000424296.2	37	c.630_splice	CCDS55048.1																																																																																				0.35	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	In_Frame_Del	7	506						7	506	---	---	---	---	-	109980434	TCT	-	109980432	8	5	91	1	0	1	0	1	0	0	1	0	460	1565	54	0	5258	0	AKD1	6	109980432	Splice_Site	DEL	TCT	TCGA-IB-A7M4-01A-11D-A36O-08	36076015	109980432	61134635	69	33766											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-													tcctatactcctcctccacaTtttttttcagattaaaacgg							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																						ENST00000403834.3																			2	Insertion - Frameshift(2)	p.N759fs*7(1)|p.N765fs*7(1)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2293-2295)atfs		mediator complex subunit 23							154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919846delT	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs					MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs	p.N765fs			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2467	-	Breast(56;0.0753)		759					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.2294delA	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			10	692						10	692	---	---	---	---	-	131919846	T	-	131919846	7	5	91	1	0	1	0	1	0	0	0	0	9482	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-IB-A7M4-01A-11D-A36O-08	21939414	131919846	39195221	70	33767											
FAM54A	113115	broad.mit.edu	37	chr6	136560838	136560840	+	In_Frame_Del	DEL	GGA	GGA	-													aaaactgaggaggaagtggtGgaggaggaggaggagaaagc					rs563108520	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:136560838_136560840delGGA	ENST00000420702.1	-	6	1022_1024	c.633_635delTCC	c.(631-636)cctcca>cca	p.211_212PP>P	MTFR2_ENST00000451457.2_In_Frame_Del_p.211_212PP>P	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	211	Pro-rich.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											aggaagtggtggaggaggaggag	0.507																																						ENST00000420702.1																			0											c.(631-636)cca>cc		mitochondrial fission regulator 2																																				SO:0001651	inframe_deletion	113115							g.chr6:136560838_136560840delGGA	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"DUF729 domain containing 1", "family with sequence similarity 54, member A"	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.633_635delTCC	6.37:g.136560847_136560849delGGA	ENSP00000395232:p.Pro213del					MTFR2_ENST00000451457.2_In_Frame_Del_p.PP211del	p.PP211del	NM_001099286.1	NP_001092756.1					6	1022_1024	-								A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	In_Frame_Del	DEL	ENST00000420702.1	37	c.633_635delTCC	CCDS5176.1																																																																																				0.507	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		9	286						9	286	---	---	---	---	-	136560840	GGA	-	136560838	7	5	91	1	0	1	0	1	0	0	0	0	5607	1348	47	0	534	0	FAM54A	6	136560838	In_Frame_Del	DEL	GGA	TCGA-IB-A7M4-01A-11D-A36O-08	4640992	136560838	34554229	71	33768											
PEX3	8504	broad.mit.edu	37	chr6	143806383	143806383	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacacctagtcattttgttCaggtaagaagaaagcttggg	10	6	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:143806383C>A	ENST00000367591.4	+	11	1099	c.1036C>A	c.(1036-1038)Cag>Aag	p.Q346K	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	346					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)		TCATTTTGTTCAGGTAAGAAG	0.373																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(1036-1038)Cag>Aag		peroxisomal biogenesis factor 3							120	122	121					6																	143806383		2203	4299	6502	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143806383C>A	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.1036C>A	6.37:g.143806383C>A	ENSP00000356563:p.Gln346Lys					RP1-20N2.6_ENST00000591892.1_RNA	p.Q346K	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	11	1099	+			346					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.1036C>A	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953884	0.73902	.	.	ENSG00000034693	ENST00000367591	T	0.46819	0.86	5.45	4.56	0.56223	.	0.106414	0.64402	D	0.000003	T	0.53530	0.1802	L	0.58810	1.83	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.55256	-0.8169	10	0.40728	T	0.16	-8.3972	14.9919	0.71396	0.0:0.8564:0.1436:0.0	.	346	P56589	PEX3_HUMAN	K	346	ENSP00000356563:Q346K	ENSP00000356563:Q346K	Q	+	1	0	PEX3	143848076	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.691000	0.74573	1.257000	0.44085	0.650000	0.86243	CAG		0.373	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			10	433	1	0	6.40141e-05	6.40141e-05	0.00578816	10	433					A	143806383	C	A	143806383	3	1	91	1	0	0	0	0	1	0	0	0	11789	827	29	3	1078	3	PEX3	6	143806383	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7245545	143806383	27308684	72	33769											
AKAP12	9590	broad.mit.edu	37	chr6	151669981	151669981	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatcgaacagattccttcttCagaaagcaatttagaagagc	7	8	2	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:151669981C>T	ENST00000253332.1	+	3	644	c.455C>T	c.(454-456)tCa>tTa	p.S152L	AKAP12_ENST00000354675.6_Missense_Mutation_p.S54L|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000402676.2_Missense_Mutation_p.S152L|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Missense_Mutation_p.S47L			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	152					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)		ATTCCTTCTTCAGAAAGCAAT	0.423																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				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						c.(454-456)tCa>tTa		A kinase (PRKA) anchor protein 12							124	113	116					6																	151669981		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151669981C>T	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.455C>T	6.37:g.151669981C>T	ENSP00000253332:p.Ser152Leu					AKAP12_ENST00000359755.5_Missense_Mutation_p.S47L|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000253332.1_Missense_Mutation_p.S152L|AKAP12_ENST00000354675.6_Missense_Mutation_p.S54L	p.S152L	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	695	+		Ovarian(120;0.125)	152					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.455C>T	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221418	0.79464	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.10005	2.92;2.92;2.95;2.94	5.55	5.55	0.83447	.	0.000000	0.33199	N	0.005168	T	0.04497	0.0123	L	0.46157	1.445	0.09310	N	1	P;P;P	0.42518	0.782;0.782;0.675	B;B;B	0.37650	0.255;0.255;0.13	T	0.26052	-1.0114	10	0.37606	T	0.19	.	10.9795	0.47486	0.0:0.8859:0.0:0.1141	.	47;54;152	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	L	152;152;54;47	ENSP00000384537:S152L;ENSP00000253332:S152L;ENSP00000346702:S54L;ENSP00000352794:S47L	ENSP00000253332:S152L	S	+	2	0	AKAP12	151711674	0.007000	0.16637	0.810000	0.32431	0.881000	0.50899	1.860000	0.39428	2.770000	0.95276	0.563000	0.77884	TCA		0.423	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			7	658	0	0	0	5.18039e-06	0	7	658					T	151669981	C	T	151669981	3	4	91	1	0	0	0	0	1	0	0	0	448	838	29	2	494	2	AKAP12	6	151669981	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7863598	151669981	19445086	73	33770											
ELMO1	9844	broad.mit.edu	37	chr7	37311484	37311484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccattttttatctcattgcGgttctggaaaagaagaaaaa	8	6	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:37311484G>A	ENST00000310758.4	-	5	843	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	ELMO1_ENST00000448602.1_Missense_Mutation_p.R66C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R66C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	66					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)	p.R66C(1)		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						ATCTCATTGCGGTTCTGGAAA	0.363																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.R66C(1)	large_intestine(1)	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						c.(196-198)Cgc>Tgc		engulfment and cell motility 1							114	118	117					7																	37311484		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37311484G>A	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.196C>T	7.37:g.37311484G>A	ENSP00000312185:p.Arg66Cys					ELMO1_ENST00000448602.1_Missense_Mutation_p.R66C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R66C	p.R66C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			5	843	-			66					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.196C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871571	0.72065	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399	T;T;T;T;T;T	0.56275	2.24;2.24;2.24;1.01;0.97;0.47	4.79	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74393	-0.3680	10	0.54805	T	0.06	.	10.5944	0.45329	0.0:0.0:0.8084:0.1916	.	66	Q92556	ELMO1_HUMAN	C	66	ENSP00000312185:R66C;ENSP00000406952:R66C;ENSP00000394458:R66C;ENSP00000406610:R66C;ENSP00000416090:R66C;ENSP00000391734:R66C	ENSP00000312185:R66C	R	-	1	0	ELMO1	37278009	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.424000	0.52764	1.611000	0.50210	0.655000	0.94253	CGC		0.363	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		18	355	0	0	0	7.07596e-05	0	18	355					A	37311484	G	A	37311484	3	1	91	1	0	0	0	0	1	0	0	0	5083	1116	39	1	2059	1	ELMO1	7	37311484	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		37311484	121827179	74	33771											
PTCD1	26024	broad.mit.edu	37	chr7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-													tcagagagggtcccaaaactCtcctcctcctcctcgtcttc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)gagdel	p.E87del	PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000437572.1_5'Flank|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	87					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E87K(1)		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)			TCCCAAAACTCTCCTCCTCCTCC	0.606																																						ENST00000292478.4																			1	Substitution - Missense(1)	p.E87K(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27						c.(259-261)del		pentatricopeptide repeat domain 1																																				SO:0001651	inframe_deletion	26024							g.chr7:99032605_99032607delCTC	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.259_261delGAG	7.37:g.99032614_99032616delCTC	ENSP00000292478:p.Glu87del					PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del	p.E87del	NM_015545.3	NP_056360.2			STAD - Stomach adenocarcinoma(171;0.215)		2	509_511	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)							Q3ZB78|Q66K60|Q9UDV2	In_Frame_Del	DEL	ENST00000292478.4	37	c.259_261delGAG	CCDS34691.1																																																																																				0.606	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		7	647						7	647	---	---	---	---	-	99032607	CTC	-	99032605	7	5	91	1	0	1	0	1	0	0	0	0	12774	912	32	0	1869	0	PTCD1	7	99032605	In_Frame_Del	DEL	CTC	TCGA-IB-A7M4-01A-11D-A36O-08	61721121	99032605	60106058	75	33772											
CUL1	8454	broad.mit.edu	37	chr7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagtgcaagtgacgatgccGaagccagcatgatctccaag	11	11	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458																																						ENST00000325222.4																			4	Substitution - Missense(4)	p.E485K(4)	urinary_tract(2)|lung(1)|central_nervous_system(1)	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						c.(1453-1455)Gaa>Aaa		cullin 1							80	73	76					7																	148484186		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484186G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1453G>A	7.37:g.148484186G>A	ENSP00000326804:p.Glu485Lys					CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1732	+	Melanoma(164;0.15)		485					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1453G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA		0.458	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		19	307	0	0	0	0.000132079	0	19	307					A	148484186	G	A	148484186	3	1	91	1	0	0	0	0	1	0	0	0	4065	1059	37	1	1499	1	CUL1	7	148484186	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	49451581	148484186	10654477	76	33773											
BMP1	649	broad.mit.edu	37	chr8	22037971	22037971	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgcactgcgtgtggcGcatctctgtcacacccgggg	12	14	3	0	rs577420762		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:22037971G>A	ENST00000306385.5	+	8	1722	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.R351H|BMP1_ENST00000397814.3_Missense_Mutation_p.R351H|BMP1_ENST00000306349.8_Missense_Mutation_p.R351H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	351	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)		TGCGTGTGGCGCATCTCTGTC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18854	0.0		0.0	False		,,,				2504	0.0					ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(1051-1053)cGc>cAc		bone morphogenetic protein 1							191	165	174					8																	22037971		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037971G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1052G>A	8.37:g.22037971G>A	ENSP00000305714:p.Arg351His					BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R351H|BMP1_ENST00000397816.3_Missense_Mutation_p.R351H|BMP1_ENST00000397814.3_Missense_Mutation_p.R351H	p.R351H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	8	1722	+			351			CUB 1.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.1052G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795501	0.90453	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.66	5.66	0.87406	CUB (5);	0.000000	0.39274	U	0.001412	T	0.53722	0.1814	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;0.998;0.994	P;D;P;P	0.91635	0.818;0.999;0.886;0.629	T	0.42241	-0.9463	10	0.35671	T	0.21	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	351;424;351;351	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	H	351	ENSP00000305714:R351H;ENSP00000380917:R351H;ENSP00000306121:R351H;ENSP00000380915:R351H	ENSP00000306121:R351H	R	+	2	0	BMP1	22093916	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.755000	0.74914	2.665000	0.90641	0.561000	0.74099	CGC		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		5	404	0	0	0	1.23904e-05	0	5	404					A	22037971	G	A	22037971	3	1	91	1	0	0	0	0	1	0	0	0	1458	1087	38	1	1082	1	BMP1	8	22037971	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		22037971	124326051	77	33774											
ADAM2	2515	broad.mit.edu	37	chr8	39626980	39626980	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacacactgcttgctgtttGaaaaaaggatctaagcgagg	10	9	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:39626980G>C	ENST00000265708.4	-	12	1246	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	ADAM2_ENST00000379853.2_Missense_Mutation_p.F255L|ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L|ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					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)		CTTGCTGTTTGAAAAAAGGAT	0.443																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1141-1143)ttC>ttG		ADAM metallopeptidase domain 2							157	141	146					8																	39626980		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39626980G>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1143C>G	8.37:g.39626980G>C	ENSP00000265708:p.Phe381Leu					ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L|ADAM2_ENST00000379853.2_Missense_Mutation_p.F255L	p.F381L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1246	-		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)	381					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1143C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721482	0.30503	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.01947	5.13;4.54;5.38;5.34	5.11	2.07	0.26955	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.01800	0.0057	N	0.17631	0.505	0.09310	N	1	B;B;B;B	0.14438	0.01;0.009;0.008;0.005	B;B;B;B	0.23018	0.019;0.011;0.043;0.019	T	0.49214	-0.8963	8	.	.	.	.	7.2813	0.26312	0.3303:0.0:0.6697:0.0	.	381;255;362;381	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	L	362;255;381;381	ENSP00000343854:F362L;ENSP00000369182:F255L;ENSP00000265708:F381L;ENSP00000429352:F381L	.	F	-	3	2	ADAM2	39746137	0.994000	0.37717	0.066000	0.19879	0.006000	0.05464	1.063000	0.30567	0.551000	0.29008	0.650000	0.86243	TTC		0.443	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		9	298	0	0	0	1.12685e-05	0	9	298					C	39626980	G	C	39626980	3	2	91	1	0	0	0	0	1	0	0	0	241	1281	45	5	1100	5	ADAM2	8	39626980	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	17589009	39626980	106737042	78	33775											
PRKDC	5591	broad.mit.edu	37	chr8	48790343	48790343	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttccatgacatgctgctgttCccgacaaagaacttctgtca	7	12	2	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:48790343C>A	ENST00000314191.2	-	41	5358	c.5302G>T	c.(5302-5304)Gaa>Taa	p.E1768*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1768*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1769					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)	TGCTGCTGTTCCCGACAAAGA	0.383								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(5302-5304)Gaa>Taa	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							126	123	124					8																	48790343		1872	4107	5979	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48790343C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5302G>T	8.37:g.48790343C>A	ENSP00000313420:p.Glu1768*					PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E1768*|PRKDC_ENST00000523565.1_5'UTR	p.E1768*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			41	5358	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1769					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.5302G>T		.	.	.	.	.	.	.	.	.	.	C	45	11.447149	0.99562	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.65	5.65	0.86999	.	0.056433	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7092	0.96085	0.0:1.0:0.0:0.0	.	.	.	.	X	1768	.	ENSP00000313420:E1768X	E	-	1	0	PRKDC	48952896	1.000000	0.71417	0.954000	0.39281	0.491000	0.33493	6.900000	0.75687	2.664000	0.90586	0.585000	0.79938	GAA		0.383	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	647	1	0	6.40141e-05	6.40141e-05	0.00578816	10	647					A	48790343	C	A	48790343	4	1	91	1	0	0	0	0	0	1	0	0	12568	864	30	3	7269	3	PRKDC	8	48790343	Nonsense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	9163363	48790343	97573679	79	33776											
SLCO5A1	81796	broad.mit.edu	37	chr8	70591817	70591817	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggtggagtgatcacttggCgactttggacacaggtgcat	15	7	1	1	rs151145765	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:70591817C>T	ENST00000260126.4	-	8	2526	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R607H|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R552H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	607						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCACTTGGCGACTTTGGAC	0.453													C|||	13	0.00259585	0.0098	0.0	5008	,	,		19209	0.0		0.0	False		,,,				2504	0.0					ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1819-1821)cGc>cAc		solute carrier organic anion transporter family, member 5A1		C	HIS/ARG,HIS/ARG,HIS/ARG	12,4394	20.2+/-43.8	0,12,2191	143	134	137		1820,1655,1820	5.6	1	8	dbSNP_134	137	0,8600		0,0,4300	yes	missense,missense,missense	SLCO5A1	NM_001146008.1,NM_001146009.1,NM_030958.2	29,29,29	0,12,6491	TT,TC,CC		0.0,0.2724,0.0923	probably-damaging,probably-damaging,probably-damaging	607/688,552/794,607/849	70591817	12,12994	2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70591817C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1820G>A	8.37:g.70591817C>T	ENSP00000260126:p.Arg607His					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R552H|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R607H	p.R607H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		8	2526	-	Breast(64;0.0654)		607					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1820G>A	CCDS6205.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	22.7	4.328881	0.81690	0.002724	0.0	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.41758	1.1;1.47;0.99	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000005	T	0.53222	0.1783	N	0.25890	0.77	0.49798	D	0.99982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.987;0.986	T	0.46331	-0.9199	10	0.30854	T	0.27	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	552;607;607	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	H	607;607;552	ENSP00000260126:R607H;ENSP00000434422:R607H;ENSP00000431611:R552H	ENSP00000260126:R607H	R	-	2	0	SLCO5A1	70754371	1.000000	0.71417	0.989000	0.46669	0.645000	0.38454	6.038000	0.70964	2.633000	0.89246	0.655000	0.94253	CGC		0.453	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		15	558	0	0	0	1.49906e-05	0	15	558					T	70591817	C	T	70591817	3	4	91	1	0	0	0	0	1	0	0	0	14781	768	27	1	738	1	SLCO5A1	8	70591817	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	21801474	70591817	75772205	80	33777											
RUNX1T1	862	broad.mit.edu	37	chr8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-													ctgctgctactgccgccaccTttttttaagtcctcggcgtc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	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)	404					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)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96	103	101					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	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.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		7	924						7	924	---	---	---	---	-	92998419	T	-	92998419	7	5	91	1	0	1	0	1	0	0	0	0	13797	1606	56	0	618	0	RUNX1T1	8	92998419	Frame_Shift_Del	DEL	T	TCGA-IB-A7M4-01A-11D-A36O-08	22406602	92998419	53365603	81	33778											
STK3	6788	broad.mit.edu	37	chr8	99468195	99468195	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtccagtgcttttaaccGcatctgtagttcttctaaac	9	10	3	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:99468195G>A	ENST00000419617.2	-	11	1491	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	STK3_ENST00000523601.1_Missense_Mutation_p.R479W	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	451	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				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)		GCTTTTAACCGCATCTGTAGT	0.383																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1435-1437)Cgg>Tgg		serine/threonine kinase 3							115	104	108					8																	99468195		1863	4109	5972	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99468195G>A	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.1351C>T	8.37:g.99468195G>A	ENSP00000390500:p.Arg451Trp					STK3_ENST00000419617.2_Missense_Mutation_p.R451W	p.R479W	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	13	1834	-	Breast(36;2.4e-06)	Breast(495;0.106)	451			SARAH.		A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1435C>T	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.75260	-0.91;-0.92	5.51	4.58	0.56647	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.977;0.982	D	0.84708	0.0732	10	0.87932	D	0	.	12.0474	0.53487	0.0:0.0:0.6717:0.3283	.	451;479	Q13188;B3KYA7	STK3_HUMAN;.	W	451;479	ENSP00000390500:R451W;ENSP00000429744:R479W	ENSP00000390500:R451W	R	-	1	2	STK3	99537371	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.638000	0.37165	2.746000	0.94184	0.591000	0.81541	CGG		0.383	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		6	173	0	0	0	3.59834e-05	0	6	173					A	99468195	G	A	99468195	3	1	91	1	0	0	0	0	1	0	0	0	15347	1086	38	1	128	1	STK3	8	99468195	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	6469776	99468195	46895827	82	33779											
OXR1	55074	broad.mit.edu	37	chr8	107704955	107704955	+	Splice_Site	DEL	G	G	-													tcctttaaaaaaaaaaaaaaGaatcctgatgtccatccaac							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000497705.1_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34	37	36					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	8	460						8	460	---	---	---	---	-	107704955	G	-	107704955	8	5	91	1	0	1	0	1	0	0	1	0	11376	956	33	0	750	0	OXR1	8	107704955	Splice_Site	DEL	G	TCGA-IB-A7M4-01A-11D-A36O-08	8236760	107704955	38659067	83	33780											
CSMD3	114788	broad.mit.edu	37	chr8	113349048	113349048	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgcagttatattcccAccacaaagagctacggaaaa	6	10	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:113349048A>T	ENST00000297405.5	-	44	7096	c.6852T>A	c.(6850-6852)ggT>ggA	p.G2284G	CSMD3_ENST00000352409.3_Silent_p.G2214G|CSMD3_ENST00000343508.3_Silent_p.G2244G|CSMD3_ENST00000455883.2_Silent_p.G2180G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2284	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						TTATATTCCCACCACAAAGAG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(6850-6852)ggT>ggA		CUB and Sushi multiple domains 3							66	61	63					8																	113349048		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113349048A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6852T>A	8.37:g.113349048A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Silent_p.G2180G|CSMD3_ENST00000352409.3_Silent_p.G2214G|CSMD3_ENST00000343508.3_Silent_p.G2244G	p.G2284G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			44	7096	-			2284			CUB 13.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.6852T>A	CCDS6315.1																																																																																				0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		163	313	0	0	0	0.000147903	0	163	313					T	113349048	A	T	113349048	2	4	91	1	0	0	0	0	0	0	0	1	3957	146	6	5		5	CSMD3	8	113349048	Silent	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	5644093	113349048	33014974	84	33781											
SCRIB	23513	broad.mit.edu	37	chr8	144891159	144891159	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatctccctgtcatcccCgggcagcagtgcgtcctctg	10	17	3	0	rs370311838		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144891159C>T	ENST00000320476.3	-	15	1741	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	SCRIB_ENST00000377533.3_Missense_Mutation_p.G498R|SCRIB_ENST00000356994.2_Missense_Mutation_p.G579R	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	579	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)			CTGTCATCCCCGGGCAGCAGT	0.642																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1735-1737)Ggg>Agg		scribbled planar cell polarity protein		C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	50	50	50		1735,1735	-7.9	0	8		50	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	SCRIB	NM_015356.3,NM_182706.3	125,125	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	579/1631,579/1656	144891159	1,13003	2203	4299	6502	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891159C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1735G>A	8.37:g.144891159C>T	ENSP00000322938:p.Gly579Arg					SCRIB_ENST00000320476.3_Missense_Mutation_p.G579R|SCRIB_ENST00000377533.3_Missense_Mutation_p.G498R	p.G579R	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1741	-	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)		579			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1735G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	7.938	0.742196	0.15642	0.0	1.16E-4	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.36340	1.49;1.45;1.26	4.79	-7.88	0.01178	.	.	.	.	.	T	0.13543	0.0328	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.001;0.004	T	0.25502	-1.0130	9	0.13853	T	0.58	.	5.0756	0.14630	0.0935:0.0875:0.2007:0.6183	.	579;579	Q14160;Q14160-3	SCRIB_HUMAN;.	R	579;579;498	ENSP00000349486:G579R;ENSP00000322938:G579R;ENSP00000366756:G498R	ENSP00000322938:G579R	G	-	1	0	SCRIB	144963147	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.067000	0.14510	-1.579000	0.01646	0.401000	0.26515	GGG		0.642	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		26	443	0	0	0	2.25844e-05	0	26	443					T	144891159	C	T	144891159	3	4	91	1	0	0	0	0	1	0	0	0	13987	652	23	1	3324	1	SCRIB	8	144891159	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	31542111	144891159	1472863	85	33782											
PLEC	5339	broad.mit.edu	37	chr8	144991972	144991972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagtgacggcgcgctcggccGacagcagcttgtccttgaac	13	14	0	2	rs200521669		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144991972G>A	ENST00000322810.4	-	32	12597	c.12428C>T	c.(12427-12429)tCg>tTg	p.S4143L	PLEC_ENST00000436759.2_Missense_Mutation_p.S4033L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4010L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4006L|PLEC_ENST00000527096.1_Missense_Mutation_p.S4029L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3984L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3992L|PLEC_ENST00000398774.2_Missense_Mutation_p.S3974L|PLEC_ENST00000345136.3_Missense_Mutation_p.S4006L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4143	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						GCGCTCGGCCGACAGCAGCTT	0.607																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12427-12429)tCg>tTg		plectin		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	2,4334		0,2,2166	45	53	51		12098,11975,11951,12428,11921,12017,12029,12017	5.1	1	8		51	0,8534		0,0,4267	yes	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	145,145,145,145,145,145,145,145	0,2,6433	AA,AG,GG		0.0,0.0461,0.0155	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	4033/4575,3992/4534,3984/4526,4143/4685,3974/4516,4006/4548,4010/4552,4006/4548	144991972	2,12868	2168	4267	6435	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991972G>A	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.12428C>T	8.37:g.144991972G>A	ENSP00000323856:p.Ser4143Leu					PLEC_ENST00000345136.3_Missense_Mutation_p.S4006L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4006L|PLEC_ENST00000436759.2_Missense_Mutation_p.S4033L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4010L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3984L|PLEC_ENST00000527096.1_Missense_Mutation_p.S4029L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3992L|PLEC_ENST00000398774.2_Missense_Mutation_p.S3974L	p.S4143L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	12597	-			4143			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12428C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279669	0.23307	4.61E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000014	D	0.84511	0.5488	L	0.58302	1.8	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	0.998;0.998;0.998;0.999;0.998;0.998;0.998;0.998	D	0.85805	0.1376	10	0.87932	D	0	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	4033;3992;3984;4143;3974;4006;4010;4006	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	4006;4010;4006;3974;4143;3984;3992;4033;4029	ENSP00000344848:S4006L;ENSP00000350277:S4010L;ENSP00000346602:S4006L;ENSP00000381756:S3974L;ENSP00000323856:S4143L;ENSP00000347044:S3984L;ENSP00000348702:S3992L;ENSP00000388180:S4033L;ENSP00000434583:S4029L	ENSP00000323856:S4143L	S	-	2	0	PLEC	145063960	1.000000	0.71417	0.996000	0.52242	0.232000	0.25224	9.595000	0.98260	2.654000	0.90174	0.549000	0.68633	TCG		0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		12	344	0	0	0	6.40141e-05	0	12	344					A	144991972	G	A	144991972	3	1	91	1	0	0	0	0	1	0	0	0	12094	1059	37	1	1630	1	PLEC	8	144991972	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	100813	144991972	1372050	86	33783											
SLC39A4	55630	broad.mit.edu	37	chr8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-													atgtcatcctcgtacagggaCagcagcagcaggacggtcca							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:145637952_145637954delCAG	ENST00000301305.3	-	12	2017_2019	c.1912_1914delCTG	c.(1912-1914)ctgdel	p.L638del	SLC39A4_ENST00000276833.5_In_Frame_Del_p.L613del|GS1-393G12.14_ENST00000607491.1_RNA|SLC39A4_ENST00000531013.1_5'UTR	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1837-1839)del		solute carrier family 39 (zinc transporter), member 4																																				SO:0001651	inframe_deletion	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145637952_145637954delCAG	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1912_1914delCTG	8.37:g.145637961_145637963delCAG	ENSP00000301305:p.Leu638del					SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del	p.L613del	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		11	2140_2142	-	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)		638					Q7L5S5|Q9H6T8|Q9NXC4	In_Frame_Del	DEL	ENST00000301305.3	37	c.1837_1839delCTG	CCDS6424.1																																																																																				0.601	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			7	1094						7	1094	---	---	---	---	-	145637954	CAG	-	145637952	7	5	91	1	0	1	0	1	0	0	0	0	14670	465	17	0	33	0	SLC39A4	8	145637952	In_Frame_Del	DEL	CAG	TCGA-IB-A7M4-01A-11D-A36O-08	645980	145637952	726070	87	33784											
CDKN2A	1029	broad.mit.edu	37	chr9	21974759	21974759	+	Frame_Shift_Del	DEL	C	C	-													cccgcacctcctctacccgaCcccgggccgcggccgtggcc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:21974759delC	ENST00000304494.5	-	1	338	c.68delG	c.(67-69)ggtfs	p.G23fs	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G23fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G23fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G23fs|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		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.0(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23fs*3(1)|p.G23D(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)		CTCTACCCGACCCCGGGCCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1343	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(2)|Substitution - Missense(1)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.0(1)|p.R24fs*20(1)|p.R22fs*14(1)|p.G23fs*3(1)|p.G23D(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|large_intestine(7)|autonomic_ganglia(7)|liver(7)|meninges(7)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM980322	CDKN2A	M		c.(67-69)gtfs		cyclin-dependent kinase inhibitor 2A							16	21	20					9																	21974759		1897	3867	5764	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974759delC	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.68delG	9.37:g.21974759delC	ENSP00000307101:p.Gly23fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G23fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G23fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G23fs	p.G23fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	338	-		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)	23		G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.68delG	CCDS6510.1																																																																																				0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		58	189						58	189	---	---	---	---	-	21974759	C	-	21974759	7	5	91	1	0	1	0	1	0	0	0	0	3170	507	18	0	615	0	CDKN2A	9	21974759	Frame_Shift_Del	DEL	C	TCGA-IB-A7M4-01A-11D-A36O-08		21974759	119238672	88	33785											
PRUNE2	158471	broad.mit.edu	37	chr9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcactggggattgccGcacccccactgcagtcatcc	9	17	2	0	rs546948015		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1145					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						GGGGATTGCCGCACCCCCACT	0.522													A|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.0		0.001	False		,,,				2504	0.0					ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2356-2358)gCg>gTg		prune homolog 2 (Drosophila)							121	111	114					9																	79323756		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323756G>A	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.3434C>T	9.37:g.79323756G>A	ENSP00000365908:p.Ala1145Val					PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1145V	p.A786V			Q8WUY3	PRUN2_HUMAN			8	3557	-			1145					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2357C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851	-0.238399	0.05944	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.08	6.08	0.98989	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	0.218000	0.23608	0.794000	0.32065	0.308000	0.27856	0.910000	0.28571	1.126000	0.42016	-0.254000	0.11334	GCG		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	586	0	0	0	5.18039e-06	0	7	586					A	79323756	G	A	79323756	3	1	91	1	0	0	0	0	1	0	0	0	12688	1087	38	1	5880	1	PRUNE2	9	79323756	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	57348997	79323756	61889675	89	33786											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		8	1418						8	1418	---	---	---	---	-	94172779	T	-	94172779	7	5	91	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-IB-A7M4-01A-11D-A36O-08	14849023	94172779	47040652	90	33787											
PTPDC1	138639	broad.mit.edu	37	chr9	96847575	96847575	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaagtacacaaaagtaggggAgcgtttacggcatgtcattc	11	7	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:96847575A>G	ENST00000375360.3	+	3	465	c.125A>G	c.(124-126)gAg>gGg	p.E42G	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E94G	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	42					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						AAAGTAGGGGAGCGTTTACGG	0.453																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(124-126)gAg>gGg		protein tyrosine phosphatase domain containing 1							103	89	94					9																	96847575		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96847575A>G	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.125A>G	9.37:g.96847575A>G	ENSP00000364509:p.Glu42Gly					PTPDC1_ENST00000288976.3_Missense_Mutation_p.E94G	p.E42G	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			3	465	+			42					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.125A>G	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.564213	0.86335	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.75589	-0.95;-0.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.83953	2.67	0.54753	D	0.999987	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.81914	0.981;0.992;0.971;0.995	D	0.88807	0.3289	10	0.87932	D	0	-27.4699	15.0953	0.72229	1.0:0.0:0.0:0.0	.	96;94;96;42	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	G	42;94	ENSP00000364509:E42G;ENSP00000288976:E94G	ENSP00000288976:E94G	E	+	2	0	PTPDC1	95887396	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.771000	0.91751	2.226000	0.72624	0.482000	0.46254	GAG		0.453	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		147	519	0	0	0	0.000147903	0	147	519					G	96847575	A	G	96847575	3	3	91	1	0	0	0	0	1	0	0	0	12821	304	11	4	373	4	PTPDC1	9	96847575	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	2674796	96847575	44365856	91	33788											
DBH	1621	broad.mit.edu	37	chr9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccccgagatggacagcGtcccccacttcagcgggccc	12	19	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657																																						ENST00000393056.2																			1	Substitution - Missense(1)	p.V276I(1)	pancreas(1)	central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(826-828)Gtc>Atc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						77	76	76					9																	136508616		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136508616G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.826G>A	9.37:g.136508616G>A	ENSP00000376776:p.Val276Ile						p.V276I	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	4	838	+			276					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.826G>A	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.699360	0.00725	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.29917	1.55;1.55	4.9	-8.25	0.01025	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.610624	0.17687	N	0.165404	T	0.07954	0.0199	N	0.04373	-0.215	0.19775	N	0.99995	B	0.06786	0.001	B	0.11329	0.006	T	0.25502	-1.0130	10	0.02654	T	1	-15.1191	7.9737	0.30143	0.4294:0.0:0.3685:0.2021	.	276	P09172	DOPO_HUMAN	I	276;213;213	ENSP00000376776:V276I;ENSP00000263611:V213I	ENSP00000263611:V213I	V	+	1	0	DBH	135498437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.053000	0.03500	-1.933000	0.01052	-0.410000	0.06199	GTC		0.657	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		9	348	0	0	0	6.40141e-05	0	9	348					A	136508616	G	A	136508616	3	1	91	1	0	0	0	0	1	0	0	0	4261	1145	40	1	840	1	DBH	9	136508616	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	39661041	136508616	4704815	92	33789											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486218	37486218	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttttagagcctcccgAgaagccatctgccttcgagg	10	12	1	2	rs542212891	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:37486218A>G	ENST00000602533.1	+	28	2555	c.2456A>G	c.(2455-2457)gAg>gGg	p.E819G	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E938G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E819G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	875					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						GAGCCTCCCGAGAAGCCATCT	0.328													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17451	0.0		0.0	False		,,,				2504	0.0					ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2812-2814)gAg>gGg		ankyrin repeat domain 30A							199	164	175					10																	37486218		1812	4086	5898	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486218A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2456A>G	10.37:g.37486218A>G	ENSP00000473551:p.Glu819Gly					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E819G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E819G	p.E938G			Q9BXX3	AN30A_HUMAN			34	2912	+			993					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2813A>G		.	.	.	.	.	.	.	.	.	.	.	7.473	0.647097	0.14516	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07567	3.18;3.18	1.36	1.36	0.22044	.	.	.	.	.	T	0.09024	0.0223	N	0.17082	0.46	0.09310	N	1	P	0.45126	0.851	P	0.55391	0.775	T	0.33240	-0.9876	9	0.30078	T	0.28	.	4.8082	0.13329	1.0:0.0:0.0:0.0	.	875	Q9BXX3	AN30A_HUMAN	G	819;938	ENSP00000354432:E819G;ENSP00000363792:E938G	ENSP00000354432:E819G	E	+	2	0	ANKRD30A	37526224	0.084000	0.21492	0.002000	0.10522	0.001000	0.01503	2.453000	0.44970	0.609000	0.30018	0.398000	0.26397	GAG		0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		8	1536	0	0	0	2.56e-06	0	8	1536					G	37486218	A	G	37486218	3	3	91	1	0	0	0	0	1	0	0	0	658	304	11	4	2566	4	ANKRD30A	10	37486218	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08		37486218	98048529	93	33790											
DDX50	79009	broad.mit.edu	37	chr10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A													tggagatatagatgaatatgINSaaaaaaaatcaaagcgagta							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						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						AGATGAATATGAAAAAAAATCA	0.307																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(313-315)aaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50																																				SO:0001589	frameshift_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666692_70666693insA	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.321dupA	10.37:g.70666700_70666700dupA	ENSP00000362687:p.Glu105fs						p.K105fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	420_421	+			105					Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Ins	INS	ENST00000373585.3	37	c.313_314insA	CCDS7283.1																																																																																				0.307	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		7	912						7	912	---	---	---	---	A	70666693	-	A	70666692	7	5	91	1	0	1	1	0	0	0	0	0	4379	1291	45	0	319	0	DDX50	10	70666692	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	33180474	70666692	64868055	94	33791											
VDAC2	7417	broad.mit.edu	37	chr10	76979095	76979095	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactgacatttgatactAccttctcaccaaacacaggg	6	11	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:76979095A>G	ENST00000332211.6	+	6	550	c.337A>G	c.(337-339)Acc>Gcc	p.T113A	VDAC2_ENST00000313132.4_Missense_Mutation_p.T128A|VDAC2_ENST00000535553.1_Missense_Mutation_p.T74A|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.T113A	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	113					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)	ATTTGATACTACCTTCTCACC	0.239																																						ENST00000535553.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10						c.(220-222)Acc>Gcc		voltage-dependent anion channel 2	Dihydroxyaluminium(DB01375)						52	54	53					10																	76979095		2203	4299	6502	SO:0001583	missense	7417					mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr10:76979095A>G	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.337A>G	10.37:g.76979095A>G	ENSP00000361686:p.Thr113Ala					VDAC2_ENST00000332211.6_Missense_Mutation_p.T113A|VDAC2_ENST00000313132.4_Missense_Mutation_p.T128A|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.T113A	p.T74A			P45880	VDAC2_HUMAN			7	576	+	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		113					Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	c.220A>G	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842620	0.51057	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.67569	2.06	0.80722	D	1	B;B;B	0.28082	0.033;0.2;0.149	B;B;B	0.30029	0.11;0.098;0.063	T	0.32161	-0.9917	10	0.23891	T	0.37	.	15.1356	0.72562	1.0:0.0:0.0:0.0	.	74;128;113	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	A	113;113;113;113;74;128;113	ENSP00000298468:T113A;ENSP00000443092:T113A;ENSP00000344876:T113A;ENSP00000361686:T113A;ENSP00000445901:T74A;ENSP00000361635:T128A;ENSP00000401492:T113A	ENSP00000298468:T113A	T	+	1	0	VDAC2	76649101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.574000	0.82434	1.978000	0.57642	0.460000	0.39030	ACC		0.239	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	NM_003375		84	318	0	0	0	0.000147903	0	84	318					G	76979095	A	G	76979095	3	3	91	1	0	0	0	0	1	0	0	0	17201	391	14	4	435	4	VDAC2	10	76979095	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	6312403	76979095	58555652	95	33792											
NEURL	9148	broad.mit.edu	37	chr10	105349367	105349367	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcagccgcctgtctgAccccttgctcagcacgtgca	11	17	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:105349367A>C	ENST00000369780.4	+	5	1845	c.1436A>C	c.(1435-1437)gAc>gCc	p.D479A	NEURL_ENST00000369777.2_Missense_Mutation_p.D462A|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		479					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCCTGTCTGACCCCTTGCTC	0.647																																						ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1435-1437)gAc>gCc									80	81	81					10																	105349367		2203	4300	6503	SO:0001583	missense	0				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105349367A>C																												ENST00000369780.4:c.1436A>C	10.37:g.105349367A>C	ENSP00000358795:p.Asp479Ala					SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Missense_Mutation_p.D462A	p.D479A	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	5	1845	+			479					Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.1436A>C	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850177	0.51270	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	5.2	5.2	0.72013	.	0.100580	0.64402	D	0.000003	T	0.57272	0.2042	M	0.65498	2.005	0.80722	D	1	B	0.17852	0.024	B	0.12156	0.007	T	0.53493	-0.8431	9	0.20046	T	0.44	-30.6731	11.069	0.47993	0.9249:0.0:0.0751:0.0	.	479	O76050	NEU1A_HUMAN	A	479;462	.	ENSP00000358792:D462A	D	+	2	0	NEURL	105339357	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.976000	0.70484	1.980000	0.57719	0.459000	0.35465	GAC		0.647	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			11	476	0	0	0	6.40141e-05	0	11	476					C	105349367	A	C	105349367	3	2	91	1	0	0	0	0	1	0	0	0	10387	275	10	4	1454	4	NEURL	10	105349367	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	28370272	105349367	30185380	96	33793											
MUC2	4583	broad.mit.edu	37	chr11	1096405	1096405	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagggcaactgcacctacGtgctggtggaggagatcagc	14	11	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:1096405G>A	ENST00000441003.2	+	34	6457	c.6430G>A	c.(6430-6432)Gtg>Atg	p.V2144M	MUC2_ENST00000361558.6_Missense_Mutation_p.V282M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4506					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)	CTGCACCTACGTGCTGGTGGA	0.602																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6430-6432)Gtg>Atg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						90	102	98					11																	1096405		2169	4272	6441	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1096405G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6430G>A	11.37:g.1096405G>A	ENSP00000415183:p.Val2144Met					MUC2_ENST00000361558.6_Missense_Mutation_p.V282M	p.V2144M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	34	6457	+		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)	4506					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.6430G>A		.	.	.	.	.	.	.	.	.	.	g	15.11	2.735694	0.49045	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.62364	0.03;0.03	3.95	3.04	0.35103	.	.	.	.	.	T	0.75332	0.3835	M	0.80422	2.495	0.09310	N	1	D	0.76494	0.999	P	0.62014	0.897	T	0.63844	-0.6545	9	0.72032	D	0.01	.	9.045	0.36341	0.1805:0.0:0.8195:0.0	.	2144	E7EUV1	.	M	2144;282	ENSP00000415183:V2144M;ENSP00000354885:V282M	ENSP00000354885:V282M	V	+	1	0	MUC2	1086405	1.000000	0.71417	0.942000	0.38095	0.747000	0.42532	3.053000	0.49901	0.869000	0.35703	0.479000	0.44913	GTG		0.602	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		76	266	0	0	0	0.000147903	0	76	266					A	1096405	G	A	1096405	3	1	91	1	0	0	0	0	1	0	0	0	10016	1145	40	1	6556	1	MUC2	11	1096405	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		1096405	133910111	97	33794											
MICAL2	9645	broad.mit.edu	37	chr11	12247727	12247727	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgattctctagcaactttgaCtctttgaatgaagatgatgc	8	7	2	6			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:12247727C>G	ENST00000256194.4	+	14	1986	c.1698C>G	c.(1696-1698)gaC>gaG	p.D566E	MICAL2_ENST00000527546.1_Missense_Mutation_p.D566E|MICAL2_ENST00000537344.1_Missense_Mutation_p.D566E|MICAL2_ENST00000342902.5_Missense_Mutation_p.D566E|MICAL2_ENST00000379612.3_Missense_Mutation_p.D566E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	566	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)		GCAACTTTGACTCTTTGAATG	0.517																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1696-1698)gaC>gaG		microtubule associated monooxygenase, calponin and LIM domain containing 2							95	102	100					11																	12247727		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12247727C>G	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.1698C>G	11.37:g.12247727C>G	ENSP00000256194:p.Asp566Glu					MICAL2_ENST00000527546.1_Missense_Mutation_p.D566E|MICAL2_ENST00000537344.1_Missense_Mutation_p.D566E|MICAL2_ENST00000342902.5_Missense_Mutation_p.D566E|MICAL2_ENST00000379612.3_Missense_Mutation_p.D566E	p.D566E	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	14	1986	+			566			CH.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.1698C>G	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846635	0.51164	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.39	5.39	0.77823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.37750	1.13	0.53005	D	0.999962	B;B;B;B;B	0.10296	0.0;0.001;0.002;0.003;0.0	B;B;B;B;B	0.20184	0.006;0.026;0.028;0.026;0.004	T	0.35450	-0.9788	10	0.28530	T	0.3	.	10.6994	0.45918	0.0:0.879:0.0:0.121	.	566;566;566;566;566	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	E	566;99;566;566;566;566	ENSP00000441689:D566E;ENSP00000256194:D566E;ENSP00000433965:D566E;ENSP00000344894:D566E;ENSP00000368932:D566E	ENSP00000256194:D566E	D	+	3	2	MICAL2	12204303	0.979000	0.34478	1.000000	0.80357	0.988000	0.76386	0.260000	0.18424	2.526000	0.85167	0.563000	0.77884	GAC		0.517	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		12	449	0	0	0	9.31168e-06	0	12	449					G	12247727	C	G	12247727	3	3	91	1	0	0	0	0	1	0	0	0	9611	564	20	5	1744	5	MICAL2	11	12247727	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	11151322	12247727	122758789	98	33795											
NUCB2	4925	broad.mit.edu	37	chr11	17336987	17336988	+	Frame_Shift_Ins	INS	-	-	A													ggagtttttgaaagccacagINSaaaaaaaagaattcttggag							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:17336987_17336988insA	ENST00000529010.1	+	11	1186_1187	c.967_968insA	c.(967-969)gaafs	p.E323fs	NUCB2_ENST00000323688.6_Frame_Shift_Ins_p.E323fs|NUCB2_ENST00000458064.2_Intron	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	323	Binds to necdin. {ECO:0000250}.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGCCACAGAAAAAAAAGAA	0.327																																						ENST00000529010.1																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(967-969)aaafs		nucleobindin 2																																				SO:0001589	frameshift_variant	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17336987_17336988insA	AF052642	CCDS41623.1	11p15.1	2013-01-10						"EF-hand domain containing"	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.975dupA	11.37:g.17336995_17336995dupA	ENSP00000436455:p.Glu323fs					NUCB2_ENST00000458064.2_Intron|NUCB2_ENST00000323688.6_Frame_Shift_Ins_p.K323fs	p.K323fs	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN			11	1186_1187	+			323			Binds to necdin (By similarity).|EF-hand 2.		A8K642|D3DQX5|Q8NFT5	Frame_Shift_Ins	INS	ENST00000529010.1	37	c.967_968insA	CCDS41623.1																																																																																				0.327	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		11	603						11	603	---	---	---	---	A	17336988	-	A	17336987	7	5	91	1	0	1	1	0	0	0	0	0	10761	943	33	0	1001	0	NUCB2	11	17336987	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	5089260	17336987	117669529	99	33796											
OR5B17	219965	broad.mit.edu	37	chr11	58126293	58126293	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatggctttgtcttctataaGcaacccagttaaaacctttg	7	9	2	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:58126293G>T	ENST00000357377.3	-	1	249	c.250C>A	c.(250-252)Ctt>Att	p.L84I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCTATAAGCAACCCAGTT	0.458																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(250-252)Ctt>Att		olfactory receptor, family 5, subfamily B, member 17							85	80	82					11																	58126293		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126293G>T	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.250C>A	11.37:g.58126293G>T	ENSP00000349945:p.Leu84Ile						p.L84I	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	249	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	84					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.250C>A	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	3.439	-0.114369	0.06881	.	.	ENSG00000197786	ENST00000357377	T	0.00529	6.78	3.41	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.526148	0.14194	U	0.335150	T	0.00724	0.0024	M	0.73430	2.235	0.09310	N	1	B	0.20261	0.043	B	0.27608	0.081	T	0.34650	-0.9820	10	0.66056	D	0.02	-6.3521	9.1737	0.37098	0.1124:0.0:0.8876:0.0	.	84	Q8NGF7	OR5BH_HUMAN	I	84	ENSP00000349945:L84I	ENSP00000349945:L84I	L	-	1	0	OR5B17	57882869	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	-0.201000	0.09464	0.635000	0.30488	0.461000	0.40582	CTT		0.458	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		53	182	1	0	2.69774e-35	0.000147903	2.62575e-33	53	182					T	58126293	G	T	58126293	3	4	91	1	0	0	0	0	1	0	0	0	11191	971	34	3	696	3	OR5B17	11	58126293	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	40789306	58126293	76880223	100	33797											
CCDC87	55231	broad.mit.edu	37	chr11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcagctgcctcaggcGggctttggagctatatttaa	13	8	1	1	rs201943750		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710					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						TGCCTCAGGCGGGCTTTGGAG	0.557																																						ENST00000333861.3																			0				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						c.(2128-2130)Cgc>Tgc		coiled-coil domain containing 87		G	CYS/ARG	0,4400		0,0,2200	57	62	60		2128	4.1	0.3	11		60	4,8584		0,4,4290	yes	missense	CCDC87	NM_018219.2	180	0,4,6490	AA,AG,GG		0.0466,0.0,0.0308	probably-damaging	710/850	66358359	4,12984	2200	4294	6494	SO:0001583	missense	55231							g.chr11:66358359G>A	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.2128C>T	11.37:g.66358359G>A	ENSP00000328487:p.Arg710Cys						p.R710C	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	2195	-			710					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2128C>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929265	0.34096	0.0	4.66E-4	ENSG00000182791	ENST00000333861	T	0.34072	1.38	5.07	4.14	0.48551	.	0.000000	0.43919	D	0.000515	T	0.55673	0.1935	M	0.70595	2.14	0.38943	D	0.958188	D	0.89917	1.0	D	0.70935	0.971	T	0.61113	-0.7128	10	0.56958	D	0.05	-9.6332	11.2898	0.49244	0.0:0.1836:0.8164:0.0	.	710	Q9NVE4	CCD87_HUMAN	C	710	ENSP00000328487:R710C	ENSP00000328487:R710C	R	-	1	0	CCDC87	66114935	0.866000	0.29940	0.252000	0.24328	0.123000	0.20343	1.200000	0.32247	1.327000	0.45338	0.561000	0.74099	CGC		0.557	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		31	533	0	0	0	2.25844e-05	0	31	533					A	66358359	G	A	66358359	3	1	91	1	0	0	0	0	1	0	0	0	2869	1116	39	1	425	1	CCDC87	11	66358359	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	8232066	66358359	68648157	101	33798											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238436	71238436	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctctggctgtgggggAtgtggctccagctgctgtgt	18	8	1	0	rs572895813		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:71238436A>C	ENST00000398536.4	+	1	124	c.90A>C	c.(88-90)ggA>ggC	p.G30G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	30						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGATGTGGCTCCA	0.677													a|||	1	0.000199681	0.0	0.0	5008	,	,		10691	0.0		0.0	False		,,,				2504	0.001					ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(88-90)ggA>ggC		keratin associated protein 5-7							69	89	82					11																	71238436		2200	4291	6491	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238436A>C	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.90A>C	11.37:g.71238436A>C							p.G30G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	124	+			30					B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.90A>C	CCDS41682.1																																																																																				0.677	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			7	841	0	0	0	2.17888e-05	0	7	841					C	71238436	A	C	71238436	2	2	91	1	0	0	0	0	0	0	0	1	8597	320	12	4		4	KRTAP5-7	11	71238436	Silent	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08	4880077	71238436	63768080	102	33799											
ARHGAP20	57569	broad.mit.edu	37	chr11	110477352	110477352	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tggcactgcatctctcggggGagctgttccataaggaaggg	15	9	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:110477352G>C	ENST00000260283.4	-	10	1181	c.897C>G	c.(895-897)ctC>ctG	p.L299L	ARHGAP20_ENST00000527598.1_Silent_p.L263L|ARHGAP20_ENST00000528829.1_Silent_p.L263L|ARHGAP20_ENST00000524756.1_Silent_p.L276L|ARHGAP20_ENST00000357139.3_Silent_p.L273L|ARHGAP20_ENST00000533353.1_Silent_p.L273L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	299					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)		TCTCTCGGGGGAGCTGTTCCA	0.537																																						ENST00000260283.4																			0				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						c.(895-897)ctC>ctG		Rho GTPase activating protein 20							157	162	160					11																	110477352		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110477352G>C	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.897C>G	11.37:g.110477352G>C						ARHGAP20_ENST00000524756.1_Silent_p.L276L|ARHGAP20_ENST00000528829.1_Silent_p.L263L|ARHGAP20_ENST00000533353.1_Silent_p.L273L|ARHGAP20_ENST00000357139.3_Silent_p.L273L|ARHGAP20_ENST00000527598.1_Silent_p.L263L	p.L299L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		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)	10	1181	-		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)	299					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.897C>G	CCDS31673.1																																																																																				0.537	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		10	913	0	0	0	3.86212e-05	0	10	913					C	110477352	G	C	110477352	2	2	91	1	0	0	0	0	0	0	0	1	870	1161	41	5		5	ARHGAP20	11	110477352	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	39238916	110477352	24529164	103	33800											
IGSF9B	22997	broad.mit.edu	37	chr11	133807360	133807360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctctgtcctcccgactgaccGatgtcactgtcaggctgccg	10	16	3	1	rs534012086		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:133807360G>A	ENST00000321016.8	-	5	820	c.590C>T	c.(589-591)tCg>tTg	p.S197L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S197L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	197	Ig-like 2.				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)		CCGACTGACCGATGTCACTGT	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17434	0.0		0.0	False		,,,				2504	0.0					ENST00000321016.8																			0				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						c.(589-591)tCg>tTg		immunoglobulin superfamily, member 9B							61	70	67					11																	133807360		2179	4251	6430	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133807360G>A	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.590C>T	11.37:g.133807360G>A	ENSP00000317980:p.Ser197Leu					IGSF9B_ENST00000533871.2_Missense_Mutation_p.S197L	p.S197L			Q9UPX0	TUTLB_HUMAN		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)	5	820	-	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)	197			Ig-like 2.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.590C>T		.	.	.	.	.	.	.	.	.	.	G	18.11	3.551849	0.65311	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160	T;T;T;D	0.96459	-0.76;-1.21;-0.76;-4.02	5.54	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96380	0.8819	M	0.62266	1.93	0.09310	N	0.999997	D	0.52996	0.957	P	0.50537	0.643	D	0.91429	0.5164	9	0.52906	T	0.07	.	15.4985	0.75677	0.0:0.0:0.8604:0.1396	.	197	Q9UPX0	TUTLB_HUMAN	L	197;39;197;187	ENSP00000317980:S197L;ENSP00000436552:S39L;ENSP00000436576:S197L;ENSP00000434026:S187L	ENSP00000317980:S197L	S	-	2	0	IGSF9B	133312570	0.981000	0.34729	0.039000	0.18376	0.979000	0.70002	4.882000	0.63121	1.289000	0.44618	0.561000	0.74099	TCG		0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		69	194	0	0	0	0.000147903	0	69	194					A	133807360	G	A	133807360	3	1	91	1	0	0	0	0	1	0	0	0	7636	1059	37	1	3519	1	IGSF9B	11	133807360	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	23330008	133807360	1199156	104	33801											
ETV6	2120	broad.mit.edu	37	chr12	12037406	12037406	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actgctttgggattacgtctAtcagttgctttctgacagcc	9	10	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:12037406A>G	ENST00000396373.4	+	6	1311	c.1037A>G	c.(1036-1038)tAt>tGt	p.Y346C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	346					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)				GATTACGTCTATCAGTTGCTT	0.438			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	ENST00000396373.4				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"L, E, M"	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"		"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1036-1038)tAt>tGt		ets variant 6							184	163	170					12																	12037406		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037406A>G	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1037A>G	12.37:g.12037406A>G	ENSP00000379658:p.Tyr346Cys						p.Y346C	NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN			6	1311	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	346					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.1037A>G	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475803	0.84640	.	.	ENSG00000139083	ENST00000396373	T	0.14640	2.49	5.77	5.77	0.91146	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03068	-1.1076	10	0.62326	D	0.03	.	15.7572	0.78043	1.0:0.0:0.0:0.0	.	346	P41212	ETV6_HUMAN	C	346	ENSP00000379658:Y346C	ENSP00000379658:Y346C	Y	+	2	0	ETV6	11928673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.199000	0.70637	0.533000	0.62120	TAT		0.438	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		153	675	0	0	0	0.000147903	0	153	675					G	12037406	A	G	12037406	3	3	91	1	0	0	0	0	1	0	0	0	5301	449	16	4	1059	4	ETV6	12	12037406	Missense_Mutation	SNP	A	TCGA-IB-A7M4-01A-11D-A36O-08		12037406	121814489	105	33802											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		81	288	0	0	0	0.000147903	0	81	288					T	25398284	C	T	25398284	3	4	91	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	13360878	25398284	108453611	106	33803											
OR6C6	283365	broad.mit.edu	37	chr12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaaaaggagaaattaCggagaaagaaatacattggc	9	6	0	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62						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(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(184-186)cGt>cAt		olfactory receptor, family 6, subfamily C, member 6							64	67	66					12																	55688832		2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688832C>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.185G>A	12.37:g.55688832C>T	ENSP00000351211:p.Arg62His						p.R62H	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	184	-			62						Missense_Mutation	SNP	ENST00000358433.2	37	c.185G>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	3.881	-0.025966	0.07589	.	.	ENSG00000188324	ENST00000358433	T	0.01084	5.36	4.24	0.321	0.15883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000517	T	0.01800	0.0057	M	0.84219	2.685	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43065	-0.9414	10	0.66056	D	0.02	.	2.1956	0.03910	0.1224:0.4226:0.1199:0.335	.	62	A6NF89	OR6C6_HUMAN	H	62	ENSP00000351211:R62H	ENSP00000351211:R62H	R	-	2	0	OR6C6	53975099	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.335000	0.02662	-0.046000	0.13446	-1.274000	0.01402	CGT		0.388	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			80	217	0	0	0	0.000147903	0	80	217					T	55688832	C	T	55688832	3	4	91	1	0	0	0	0	1	0	0	0	11236	536	19	1	761	1	OR6C6	12	55688832	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	30290548	55688832	78163063	107	33804											
TIMELESS	8914	broad.mit.edu	37	chr12	56818901	56818903	+	In_Frame_Del	DEL	CTT	CTT	-													acaatggcctggtctaggacCttcttcttcttcttccttct							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:56818901_56818903delCTT	ENST00000553532.1	-	14	1762_1764	c.1612_1614delAAG	c.(1612-1614)aagdel	p.K538del	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_In_Frame_Del_p.K537del					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						GGTCTAGGACcttcttcttcttc	0.488																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1609-1611)del		timeless circadian clock																																				SO:0001651	inframe_deletion	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56818901_56818903delCTT	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.1612_1614delAAG	12.37:g.56818910_56818912delCTT	ENSP00000450607:p.Lys538del					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_In_Frame_Del_p.K538del	p.K537del	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			14	1763_1765	-			538						In_Frame_Del	DEL	ENST00000553532.1	37	c.1609_1611delAAG	CCDS8918.1																																																																																				0.488	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		8	392						8	392	---	---	---	---	-	56818903	CTT	-	56818901	7	5	91	1	0	1	0	1	0	0	0	0	15956	680	24	0	2076	0	TIMELESS	12	56818901	In_Frame_Del	DEL	CTT	TCGA-IB-A7M4-01A-11D-A36O-08	1130069	56818901	77032994	108	33805											
TMTC3	160418	broad.mit.edu	37	chr12	88568385	88568385	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttttttctcttaaacagtGtatttaaaaagctatcctgg	5	7	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:88568385G>A	ENST00000266712.6	+	9	1421	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	401					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.V401I(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CTTAAACAGTGTATTTAAAAA	0.318																																						ENST00000266712.6																			1	Substitution - Missense(1)	p.V401I(1)	prostate(1)	NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.e9-1		transmembrane and tetratricopeptide repeat containing 3							78	79	79					12																	88568385		2203	4298	6501	SO:0001630	splice_region_variant	160418					integral to membrane	binding	g.chr12:88568385G>A		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1200-1G>A	12.37:g.88568385G>A							p.V401_splice	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			9	1421	+			401					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Splice_Site	SNP	ENST00000266712.6	37	c.1199_splice	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439040	0.25900	.	.	ENSG00000139324	ENST00000266712	T	0.42131	0.98	5.71	4.83	0.62350	.	0.468547	0.24436	N	0.038556	T	0.28797	0.0714	L	0.27053	0.805	0.26494	N	0.974889	B	0.15930	0.015	B	0.20384	0.029	T	0.16188	-1.0411	10	0.22109	T	0.4	-12.395	9.9853	0.41839	0.2109:0.0:0.7891:0.0	.	401	Q6ZXV5-2	.	I	401	ENSP00000266712:V401I	ENSP00000266712:V401I	V	+	1	0	TMTC3	87092516	0.997000	0.39634	0.990000	0.47175	0.786000	0.44442	0.928000	0.28831	1.426000	0.47256	-0.136000	0.14681	GTA		0.318	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	Missense_Mutation	89	232	0	0	0	0.000147903	0	89	232					A	88568385	G	A	88568385	5	1	91	1	0	0	0	0	0	0	1	0	16314	1391	48	2	1231	2	TMTC3	12	88568385	Splice_Site	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	31749484	88568385	45283510	109	33806											
PWP1	11137	broad.mit.edu	37	chr12	108091262	108091262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggaaattacattgctgtagGaaacatgacccctgttattg	9	7	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:108091262G>A	ENST00000412830.3	+	7	800	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PWP1_ENST00000541166.1_Missense_Mutation_p.G149E	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	211					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ATTGCTGTAGGAAACATGACC	0.348																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(631-633)gGa>gAa		PWP1 homolog (S. cerevisiae)							133	127	129					12																	108091262		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108091262G>A	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.632G>A	12.37:g.108091262G>A	ENSP00000387365:p.Gly211Glu					PWP1_ENST00000541166.1_Missense_Mutation_p.G149E	p.G211E	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			7	800	+			211					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.632G>A	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936030	0.92458	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.44083	0.93;1.7	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.091825	0.85682	D	0.000000	T	0.73830	0.3637	M	0.93898	3.47	0.80722	D	1	D	0.59357	0.985	D	0.63488	0.915	T	0.80221	-0.1472	10	0.87932	D	0	.	19.8332	0.96644	0.0:0.0:1.0:0.0	.	211	Q13610	PWP1_HUMAN	E	211;211;211;211;149	ENSP00000387365:G211E;ENSP00000445249:G149E	ENSP00000258531:G211E	G	+	2	0	PWP1	106615392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.039000	0.93777	2.779000	0.95612	0.637000	0.83480	GGA		0.348	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		31	603	0	0	0	7.24521e-05	0	31	603					A	108091262	G	A	108091262	3	1	91	1	0	0	0	0	1	0	0	0	12893	1174	41	2	658	2	PWP1	12	108091262	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	19522877	108091262	25760633	110	33807											
PITPNM2	57605	broad.mit.edu	37	chr12	123482085	123482085	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtagcagcacgtggatcttgGagggcggtgcagccagcggc	18	10	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:123482085G>T	ENST00000542749.1	-	9	1322	c.1259C>A	c.(1258-1260)tCc>tAc	p.S420Y	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S141Y|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S420Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S420Y|PITPNM2_ENST00000451868.2_5'Flank			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	420					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)		GTGGATCTTGGAGGGCGGTGC	0.657																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1258-1260)tCc>tAc		phosphatidylinositol transfer protein, membrane-associated 2							94	90	92					12																	123482085		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123482085G>T	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1259C>A	12.37:g.123482085G>T	ENSP00000437611:p.Ser420Tyr					PITPNM2_ENST00000542749.1_Missense_Mutation_p.S420Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S420Y|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S141Y	p.S420Y			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1464	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		420					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1259C>A	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730448	0.69074	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.83	3.93	0.45458	.	0.417988	0.23797	N	0.044466	T	0.22360	0.0539	N	0.08118	0	0.37075	D	0.898715	D;D	0.62365	0.98;0.991	P;P	0.58721	0.844;0.73	T	0.35624	-0.9781	10	0.87932	D	0	-38.3331	14.0007	0.64431	0.0:0.4813:0.5187:0.0	.	420;420	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	Y	420;420;141;420	ENSP00000280562:S420Y;ENSP00000322218:S420Y;ENSP00000376223:S141Y;ENSP00000437611:S420Y	ENSP00000280562:S420Y	S	-	2	0	PITPNM2	122048038	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.154000	0.64894	1.019000	0.39547	-0.300000	0.09419	TCC		0.657	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		128	398	1	0	3.36649e-63	0.000147903	3.34047e-61	128	398					T	123482085	G	T	123482085	3	4	91	1	0	0	0	0	1	0	0	0	11993	1174	41	3	2854	3	PITPNM2	12	123482085	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	15390823	123482085	10369810	111	33808											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	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.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	8	319						8	319	---	---	---	---	-	27250863	GT	-	27250862	8	5	91	1	0	1	0	1	0	0	1	0	17308	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-IB-A7M4-01A-11D-A36O-08		27250862	87919016	112	33809											
WASF3	10810	broad.mit.edu	37	chr13	27259854	27259854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaaggtgcaggagcagCgggagcaggaggccaagcgg	19	7	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:27259854C>T	ENST00000335327.5	+	10	1559	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	WASF3_ENST00000361042.4_Missense_Mutation_p.R458W	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	461					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)		GCAGGAGCAGCGGGAGCAGGA	0.532																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1372-1374)Cgg>Tgg		WAS protein family, member 3							113	95	101					13																	27259854		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27259854C>T	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.1381C>T	13.37:g.27259854C>T	ENSP00000335055:p.Arg461Trp					WASF3_ENST00000335327.5_Missense_Mutation_p.R461W	p.R458W			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	10	1597	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	461					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1372C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650714	0.87958	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.42900	0.96;0.96	5.75	5.75	0.90469	.	0.110713	0.64402	D	0.000004	T	0.61763	0.2373	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.91	T	0.58205	-0.7677	10	0.48119	T	0.1	-11.9041	19.9239	0.97097	0.0:1.0:0.0:0.0	.	458;461	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	W	458;461	ENSP00000354325:R458W;ENSP00000335055:R461W	ENSP00000335055:R461W	R	+	1	2	WASF3	26157854	1.000000	0.71417	0.984000	0.44739	0.961000	0.63080	5.562000	0.67346	2.716000	0.92895	0.561000	0.74099	CGG		0.532	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			53	257	0	0	0	0.000147903	0	53	257					T	27259854	C	T	27259854	3	4	91	1	0	0	0	0	1	0	0	0	17308	759	27	1	1411	1	WASF3	13	27259854	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	8992	27259854	87910024	113	33810											
MTUS2	23281	broad.mit.edu	37	chr13	29600278	29600278	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgttggagagaacaagacGgaggtgcctgagcccctgga	15	9	1	3	rs201515125		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:29600278G>A	ENST00000431530.3	+	1	1531	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	481						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						AGAACAAGACGGAGGTGCCTG	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19886	0.0		0.0	False		,,,				2504	0.0					ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1471-1473)acG>acA		microtubule associated tumor suppressor candidate 2		G		0,3934		0,0,1967	83	90	88		1473	-3.7	0	13		88	1,8305		0,1,4152	no	coding-synonymous	MTUS2	NM_001033602.2		0,1,6119	AA,AG,GG		0.012,0.0,0.0082		491/1380	29600278	1,12239	1967	4153	6120	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600278G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1473G>A	13.37:g.29600278G>A							p.T491T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1531	+			481					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.1473G>A	CCDS45022.1																																																																																				0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		38	167	0	0	0	4.2857e-05	0	38	167					A	29600278	G	A	29600278	2	1	91	1	0	0	0	0	0	0	0	1	10007	1103	39	1		1	MTUS2	13	29600278	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	2340424	29600278	85569600	114	33811											
KIAA0564	23078	broad.mit.edu	37	chr13	42273281	42273281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacaaaagggtgccaaaCgccattggctgttcttggga	12	9	2	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:42273281C>T	ENST00000379310.3	-	29	3558	c.3490G>A	c.(3490-3492)Gtt>Att	p.V1164I		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1164						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GGGTGCCAAACGCCATTGGCT	0.468																																						ENST00000379310.3																			0											c.(3490-3492)Gtt>Att		von Willebrand factor A domain containing 8							102	103	103					13																	42273281		1927	4118	6045	SO:0001583	missense	23078							g.chr13:42273281C>T	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.3490G>A	13.37:g.42273281C>T	ENSP00000368612:p.Val1164Ile						p.V1164I	NM_015058.1	NP_055873.1					29	3558	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3490G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.156323	0.01686	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10099	2.91	5.39	-0.804	0.10882	.	0.649919	0.14640	N	0.307244	T	0.03871	0.0109	N	0.12746	0.255	0.24417	N	0.994636	B	0.11235	0.004	B	0.04013	0.001	T	0.44050	-0.9353	10	0.06891	T	0.86	.	4.1711	0.10331	0.0994:0.508:0.0933:0.2992	.	1164	A3KMH1	K0564_HUMAN	I	1068;1164	ENSP00000368612:V1164I	ENSP00000251030:V1068I	V	-	1	0	KIAA0564	41171281	0.010000	0.17322	0.091000	0.20842	0.071000	0.16799	0.061000	0.14366	-0.427000	0.07350	-1.128000	0.01989	GTT		0.468	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		13	535	0	0	0	0.00010058	0	13	535					T	42273281	C	T	42273281	3	4	91	1	0	0	0	0	1	0	0	0	8215	536	19	1	2295	1	KIAA0564	13	42273281	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	12673003	42273281	72896597	115	33812											
ERCC5	2073	broad.mit.edu	37	chr13	103524611	103524612	+	Frame_Shift_Ins	INS	-	-	A													atcctcatgacaccaaagtgINSaaaaaaaaattacggacatt							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:103524611_103524612insA	ENST00000355739.4	+	13	4165_4166	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.K148fs|BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.E1340fs	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	915					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)					ACACCAAAGTGAAAAAAAAATT	0.431			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000355739.4			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"Mis, N, F"	"excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"			E		"skin basal cell, skin squamous cell, melanoma"			0				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						c.(2740-2745)gtaaaafs	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 5																																				SO:0001589	frameshift_variant	2073	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV				g.chr13:103524611_103524612insA	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.2751dupA	13.37:g.103524620_103524620dupA	ENSP00000347978:p.Lys915fs					BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Ins_p.K1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.VK147fs	p.VK914fs	NM_000123.3	NP_000114.2					13	4165_4166	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Frame_Shift_Ins	INS	ENST00000355739.4	37	c.2742_2743insA	CCDS32004.1																																																																																				0.431	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			9	323						9	323	---	---	---	---	A	103524612	-	A	103524611	7	5	91	1	0	1	1	0	0	0	0	0	5234	1277	45	0	2792	0	ERCC5	13	103524611	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	61251330	103524611	11645267	116	33813											
IRS2	8660	broad.mit.edu	37	chr13	110436560	110436560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagaggacgcggggcaggacGggcagaggcggcccgcgctg	22	11	0	2	rs567423781		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:110436560G>A	ENST00000375856.3	-	1	2355	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	614					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)			GGGGCAGGACGGGCAGAGGCG	0.697													.|||	1	0.000199681	0.0	0.0	5008	,	,		10826	0.0		0.0	False		,,,				2504	0.001				Melanoma(100;613 2409 40847)	ENST00000375856.3																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1840-1842)cCg>cTg		insulin receptor substrate 2							13	17	15					13																	110436560		2185	4285	6470	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110436560G>A	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.1841C>T	13.37:g.110436560G>A	ENSP00000365016:p.Pro614Leu						p.P614L	NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	2355	-	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)	614					Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.1841C>T	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	1.859	-0.463098	0.04476	.	.	ENSG00000185950	ENST00000375856	T	0.17213	2.29	4.2	4.2	0.49525	.	0.965381	0.08540	U	0.930734	T	0.13670	0.0331	L	0.44542	1.39	0.42996	D	0.994506	B	0.34329	0.449	B	0.16722	0.016	T	0.15263	-1.0443	10	0.10636	T	0.68	-11.5	13.8503	0.63492	0.0:0.0:1.0:0.0	.	614	Q9Y4H2	IRS2_HUMAN	L	614	ENSP00000365016:P614L	ENSP00000365016:P614L	P	-	2	0	IRS2	109234561	0.977000	0.34250	0.980000	0.43619	0.886000	0.51366	2.612000	0.46343	2.156000	0.67533	0.549000	0.68633	CCG		0.697	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		4	46	0	0	0	1.23904e-05	0	4	46					A	110436560	G	A	110436560	3	1	91	1	0	0	0	0	1	0	0	0	7871	1116	39	1	2183	1	IRS2	13	110436560	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	6911949	110436560	4733318	117	33814											
CTAGE5	4253	broad.mit.edu	37	chr14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T													ttggattttttgctgttctcINSttttttttgtggagaagttt					rs75842899|rs78536283	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000557038.1_5'UTR			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					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)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	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.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		9	562						9	562	---	---	---	---	T	39746243	-	T	39746242	7	5	91	1	0	1	1	0	0	0	0	0	4005	900	32	0	205	0	CTAGE5	14	39746242	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08		39746242	67603298	118	33815											
PPP2R5C	5527	broad.mit.edu	37	chr14	102391518	102391518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaccgtcctcttgcacgccGcaagtccgagctgcctcagg	12	16	2	0	rs147942579	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:102391518G>A	ENST00000334743.5	+	14	1532	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PPP2R5C_ENST00000422945.2_Missense_Mutation_p.R526H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	495					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						CTTGCACGCCGCAAGTCCGAG	0.572																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1576-1578)cGc>cAc		protein phosphatase 2, regulatory subunit B', gamma							123	133	130					14																	102391518		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102391518G>A	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.1484G>A	14.37:g.102391518G>A	ENSP00000333905:p.Arg495His					PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.R495H	p.R526H	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			16	1673	+			495					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1577G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306513	0.95629	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.57436	0.41;0.5;0.41;0.46;0.4	6.17	5.28	0.74379	.	0.045716	0.85682	D	0.000000	T	0.75361	0.3839	M	0.85630	2.765	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.987;0.987;0.978	T	0.79727	-0.1682	10	0.59425	D	0.04	-5.113	15.7894	0.78343	0.065:0.0:0.935:0.0	.	526;456;495;511	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	H	526;511;524;456;495	ENSP00000412324:R526H;ENSP00000329009:R511H;ENSP00000450931:R524H;ENSP00000262239:R456H;ENSP00000333905:R495H	ENSP00000329009:R511H	R	+	2	0	PPP2R5C	101461271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.891000	0.92485	1.626000	0.50381	0.655000	0.94253	CGC		0.572	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		8	901	0	0	0	1.12685e-05	0	8	901					A	102391518	G	A	102391518	3	1	91	1	0	0	0	0	1	0	0	0	12441	1087	38	1	1931	1	PPP2R5C	14	102391518	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	62645276	102391518	4958022	119	33816											
FAM82A2	55177	broad.mit.edu	37	chr15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T													ttcaagcaaggctgtagcagINStttttttttctagccagctc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					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)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	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.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.45	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		7	374						7	374	---	---	---	---	T	41029894	-	T	41029893	7	5	91	1	0	1	1	0	0	0	0	0	5656	1029	36	0	271	0	FAM82A2	15	41029893	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08		41029893	61501499	120	33817											
CSPG4	1464	broad.mit.edu	37	chr15	75977834	75977834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggcctgaggccacatccagcGagaaggcatcgctccaggcc	13	15	0	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:75977834G>A	ENST00000308508.5	-	4	4090	c.3998C>T	c.(3997-3999)tCg>tTg	p.S1333L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1333	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CACATCCAGCGAGAAGGCATC	0.662																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(3997-3999)tCg>tTg		chondroitin sulfate proteoglycan 4							17	18	17					15																	75977834		2188	4287	6475	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75977834G>A	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.3998C>T	15.37:g.75977834G>A	ENSP00000312506:p.Ser1333Leu						p.S1333L	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			4	4090	-			1333			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.3998C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.250306	0.22880	.	.	ENSG00000173546	ENST00000308508	T	0.19669	2.13	4.76	3.78	0.43462	.	0.428701	0.21773	N	0.069329	T	0.11110	0.0271	L	0.27053	0.805	0.30136	N	0.804328	B	0.31837	0.342	B	0.17098	0.017	T	0.08006	-1.0743	10	0.20519	T	0.43	.	8.5151	0.33242	0.0964:0.1601:0.7435:0.0	.	1333	Q6UVK1	CSPG4_HUMAN	L	1333	ENSP00000312506:S1333L	ENSP00000312506:S1333L	S	-	2	0	CSPG4	73764889	1.000000	0.71417	0.993000	0.49108	0.240000	0.25518	3.390000	0.52523	2.356000	0.79943	0.505000	0.49811	TCG		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		24	33	0	0	0	5.49717e-05	0	24	33					A	75977834	G	A	75977834	3	1	91	1	0	0	0	0	1	0	0	0	3971	1059	37	1	2998	1	CSPG4	15	75977834	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	34947941	75977834	26553558	121	33818											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164527	85164527	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctacgaatgtaaagaatgCggcgaaagctttagttacaa	9	8	0	1	rs199585522	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:85164527C>T	ENST00000448803.2	+	3	1393	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	ZSCAN2_ENST00000358472.3_Silent_p.C217C|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000327179.6_Silent_p.C366C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	367					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C367C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTAAAGAATGCGGCGAAAGCT	0.502													C|||	13	0.00259585	0.0	0.0	5008	,	,		18127	0.0099		0.0	False		,,,				2504	0.0031					ENST00000448803.2																			1	Substitution - coding silent(1)	p.C367C(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1099-1101)tgC>tgT		zinc finger and SCAN domain containing 2		C		2,4404	4.2+/-10.8	0,2,2201	133	138	136		1101	-3.2	0.8	15		136	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	ZSCAN2	NM_181877.3		0,5,6497	TT,TC,CC		0.0349,0.0454,0.0384		367/615	85164527	5,12999	2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164527C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"-", "Zinc fingers, C2H2-type"	20994	protein-coding gene	gene with protein product			"zinc finger protein 29"	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1101C>T	15.37:g.85164527C>T						ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.C217C|ZSCAN2_ENST00000327179.6_Silent_p.C366C	p.C367C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1393	+			367					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1101C>T	CCDS10329.2																																																																																				0.502	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		7	612	0	0	0	1.12685e-05	0	7	612					T	85164527	C	T	85164527	2	4	91	1	0	0	0	0	0	0	0	1	18284	776	27	1		1	ZSCAN2	15	85164527	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	9186693	85164527	17366865	122	33819											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	623						8	623	---	---	---	---	-	1824300	TGC	-	1824298	7	5	91	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-A7M4-01A-11D-A36O-08		1824298	88530455	123	33820											
TBL3	10607	broad.mit.edu	37	chr16	2024811	2024811	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacatcgtgcggcactacGggacacaccacttccgaggc	13	14	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2024811G>A	ENST00000568546.1	+	6	555	c.427G>A	c.(427-429)Ggg>Agg	p.G143R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	143					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						GCGGCACTACGGGACACACCA	0.662																																					Melanoma(118;616 1651 35077 38081 48633)	ENST00000568546.1																			0				breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						c.(427-429)Ggg>Agg		transducin (beta)-like 3							68	61	63					16																	2024811		2198	4300	6498	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2024811G>A	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.427G>A	16.37:g.2024811G>A	ENSP00000454836:p.Gly143Arg						p.G143R	NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN			6	555	+			143					Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.427G>A	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145173	0.57044	.	.	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);	0.611855	0.18098	N	0.151764	T	0.40498	0.1119	N	0.02247	-0.625	0.42212	D	0.991811	D	0.89917	1.0	D	0.67548	0.952	T	0.50882	-0.8775	9	0.45353	T	0.12	-35.2202	11.1898	0.48679	0.0:0.0:0.7045:0.2955	.	143	Q12788	TBL3_HUMAN	R	143	.	ENSP00000331815:G143R	G	+	1	0	TBL3	1964812	1.000000	0.71417	0.943000	0.38184	0.307000	0.27823	6.648000	0.74359	2.301000	0.77427	0.561000	0.74099	GGG		0.662	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		9	308	0	0	0	2.17888e-05	0	9	308					A	2024811	G	A	2024811	3	1	91	1	0	0	0	0	1	0	0	0	15695	1116	39	1	449	1	TBL3	16	2024811	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	200513	2024811	88329942	124	33821											
PKD1	5310	broad.mit.edu	37	chr16	2161454	2161454	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtccacgtgatgttgtcGcccgtctgcaccgcggcgct	13	14	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2161454G>A	ENST00000262304.4	-	15	3922	c.3714C>T	c.(3712-3714)ggC>ggT	p.G1238G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.G1238G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1238	PKD 7. {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						TGATGTTGTCGCCCGTCTGCA	0.672																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3712-3714)ggC>ggT		polycystic kidney disease 1 (autosomal dominant)							19	18	18					16																	2161454		2109	4165	6274	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2161454G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3714C>T	16.37:g.2161454G>A						PKD1_ENST00000423118.1_Silent_p.G1238G	p.G1238G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	3922	-			1238			PKD 7.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.3714C>T	CCDS32369.1																																																																																				0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			48	124	0	0	0	0.000147903	0	48	124					A	2161454	G	A	2161454	2	1	91	1	0	0	0	0	0	0	0	1	12005	1074	38	1		1	PKD1	16	2161454	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	136643	2161454	88193299	125	33822											
SALL1	6299	broad.mit.edu	37	chr16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-													gaggagctgccgccgccgccGctgctgctgctgctgctgct					rs13336129|rs372299573	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:51175656_51175658delGCT	ENST00000251020.4	-	2	508_510	c.475_477delAGC	c.(475-477)agcdel	p.S159del	SALL1_ENST00000440970.1_In_Frame_Del_p.S62del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159	Poly-Ser.		S -> G (in dbSNP:rs13336129). {ECO:0000269|PubMed:9973281}.		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.S159G(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)			cgccgccgccgctgctgctgctg	0.631																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.S159G(1)	prostate(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						c.(184-186)del		spalt-like transcription factor 1																																				SO:0001651	inframe_deletion	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175656_51175658delGCT	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.475_477delAGC	16.37:g.51175665_51175667delGCT	ENSP00000251020:p.Ser159del					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron	p.S62del	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	615_617	-		all_cancers(37;0.0322)	159					Q99881|Q9NSC3|Q9P1R0	In_Frame_Del	DEL	ENST00000251020.4	37	c.184_186delAGC	CCDS10747.1																																																																																				0.631	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		10	281						10	281	---	---	---	---	-	51175658	GCT	-	51175656	7	5	91	1	0	1	0	1	0	0	0	0	13860	1078	38	0	3505	0	SALL1	16	51175656	In_Frame_Del	DEL	GCT	TCGA-IB-A7M4-01A-11D-A36O-08	49014202	51175656	39179097	126	33823											
TMCO7	79613	broad.mit.edu	37	chr16	68900986	68900986	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctttttctcagtcctGcacagatgtgaagacacaga	7	10	3	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:68900986G>T	ENST00000261778.1	+	4	869	c.857G>T	c.(856-858)tGc>tTc	p.C286F		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	286						integral component of membrane (GO:0016021)											TCTCAGTCCTGCACAGATGTG	0.448																																						ENST00000261778.1																			0											c.(856-858)tGc>tTc		transport and golgi organization 6 homolog (Drosophila)							84	83	84					16																	68900986		1891	4123	6014	SO:0001583	missense	79613							g.chr16:68900986G>T		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.857G>T	16.37:g.68900986G>T	ENSP00000261778:p.Cys286Phe						p.C286F	NM_024562.1	NP_078838.1					4	869	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.857G>T	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317640	0.81469	.	.	ENSG00000103047	ENST00000261778	T	0.69306	-0.39	5.83	1.31	0.21738	.	.	.	.	.	T	0.64427	0.2597	M	0.68317	2.08	0.09310	N	1	D;D	0.56521	0.976;0.976	P;P	0.47744	0.556;0.556	T	0.54002	-0.8358	9	0.19147	T	0.46	-3.9034	8.3556	0.32329	0.1386:0.2362:0.6251:0.0	.	286;125	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	F	286	ENSP00000261778:C286F	ENSP00000261778:C286F	C	+	2	0	TMCO7	67458487	0.270000	0.24152	0.463000	0.27130	0.748000	0.42578	1.234000	0.32660	0.794000	0.33899	0.650000	0.86243	TGC		0.448	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		79	340	1	0	9.25274e-37	0.000147903	9.06353e-35	79	340					T	68900986	G	T	68900986	3	4	91	1	0	0	0	0	1	0	0	0	16053	1319	46	3	871	3	TMCO7	16	68900986	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	17725330	68900986	21453767	127	33824											
TERF2	7014	broad.mit.edu	37	chr16	69390938	69390938	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cactccagccttgacccactCgctttcttctacagtccact	4	18	2	1	rs150757154	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:69390938C>A	ENST00000254942.3	-	10	1508	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*	RP11-343C2.9_ENST00000563634.1_5'Flank|TERF2_ENST00000603068.1_Nonsense_Mutation_p.E456*	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	498	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				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)				TTGACCCACTCGCTTTCTTCT	0.403																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1492-1494)Gag>Tag		telomeric repeat binding factor 2							90	96	94					16																	69390938		2198	4300	6498	SO:0001587	stop_gained	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69390938C>A		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.1492G>T	16.37:g.69390938C>A	ENSP00000254942:p.Glu498*					TERF2_ENST00000603068.1_Nonsense_Mutation_p.E456*	p.E498*	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			10	1508	-		Ovarian(137;0.101)	456			HTH myb-type.			Nonsense_Mutation	SNP	ENST00000254942.3	37	c.1492G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.345921	0.97494	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.8	5.8	0.92144	.	0.357409	0.31041	N	0.008380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-21.9402	15.9882	0.80176	0.0:0.8653:0.1347:0.0	.	.	.	.	X	456	.	ENSP00000254942:E456X	E	-	1	0	TERF2	67948439	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	3.161000	0.50747	2.744000	0.94065	0.655000	0.94253	GAG		0.403	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			9	555	1	0	3.86212e-05	3.86212e-05	0.00355524	9	555					A	69390938	C	A	69390938	4	1	91	1	0	0	0	0	0	1	0	0	15814	893	31	3	140	3	TERF2	16	69390938	Nonsense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	489952	69390938	20963815	128	33825											
KIAA0182	23199	broad.mit.edu	37	chr16	85667700	85667700	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctccagctttgccgccgCgctgcgcaagctcgccaaac	9	18	0	0	rs540734949		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:85667700C>T	ENST00000253458.7	+	2	364	c.188C>T	c.(187-189)gCg>gTg	p.A63V	GSE1_ENST00000393243.1_Intron|GSE1_ENST00000405402.2_Intron	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	63																	TTTGCCGCCGCGCTGCGCAAG	0.766													C|||	1	0.000199681	0.0	0.0	5008	,	,		11547	0.0		0.001	False		,,,				2504	0.0					ENST00000253458.7																			0											c.(187-189)gCg>gTg		Gse1 coiled-coil protein							9	12	11					16																	85667700		1859	3708	5567	SO:0001583	missense	23199							g.chr16:85667700C>T	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.188C>T	16.37:g.85667700C>T	ENSP00000253458:p.Ala63Val					GSE1_ENST00000405402.2_Intron|GSE1_ENST00000393243.1_Intron	p.A63V	NM_014615.2	NP_055430.1					2	364	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.188C>T	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677612	0.88445	.	.	ENSG00000131149	ENST00000253458	T	0.62364	0.03	4.36	4.36	0.52297	.	0.000000	0.85682	U	0.000000	T	0.68943	0.3056	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.74548	-0.3629	10	0.87932	D	0	-19.9523	16.4885	0.84191	0.0:1.0:0.0:0.0	.	63	Q14687	GSE1_HUMAN	V	63	ENSP00000253458:A63V	ENSP00000253458:A63V	A	+	2	0	KIAA0182	84225201	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.832000	0.69337	1.975000	0.57531	0.313000	0.20887	GCG		0.766	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		4	56	0	0	0	2.56e-06	0	4	56					T	85667700	C	T	85667700	3	4	91	1	0	0	0	0	1	0	0	0	8189	768	27	1	194	1	KIAA0182	16	85667700	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	16276762	85667700	4687053	129	33826											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	16	10	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.P250L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGAGGATGGGCCTCCGGTT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM973401	TP53	M		c.(748-750)cCc>cTc	Other conserved DNA damage response genes	tumor protein p53							154	112	126					17																	7577532		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577532G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L	p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	881	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	250		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.749C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		63	135	0	0	0	0.000147903	0	63	135					A	7577532	G	A	7577532	3	1	91	1	0	0	0	0	1	0	0	0	16434	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		7577532	73617678	130	33827											
PER1	5187	broad.mit.edu	37	chr17	8049954	8049955	+	Frame_Shift_Ins	INS	-	-	T													gatctgctggtaggagcagcINStggaggcttctttcctctcg							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:8049954_8049955insT	ENST00000317276.4	-	15	2101_2102	c.1864_1865insA	c.(1864-1866)agcfs	p.S622fs	PER1_ENST00000354903.5_Frame_Shift_Ins_p.S606fs|PER1_ENST00000581082.1_Frame_Shift_Ins_p.S602fs|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	622	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTAGGAGCAGCTGGAGGCTTCT	0.639			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1864-1866)ctgfs	Other conserved DNA damage response genes	period circadian clock 1																																				SO:0001589	frameshift_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049954_8049955insT	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1865dupA	17.37:g.8049955_8049955dupT	ENSP00000314420:p.Ser622fs					PER1_ENST00000354903.5_Frame_Shift_Ins_p.L606fs|PER1_ENST00000581082.1_Frame_Shift_Ins_p.L602fs	p.L622fs	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			15	2101_2102	-			622			CSNK1E binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Frame_Shift_Ins	INS	ENST00000317276.4	37	c.1864_1865insA	CCDS11131.1																																																																																				0.639	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			41	241						41	241	---	---	---	---	T	8049955	-	T	8049954	7	5	91	1	0	1	1	0	0	0	0	0	11771	797	28	0	2043	0	PER1	17	8049954	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	472422	8049954	73145256	131	33828											
SMCR8	140775	broad.mit.edu	37	chr17	18220237	18220237	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttgaagactttgtggaggtCgatgacaggatggtggagaa	16	3	0	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:18220237C>T	ENST00000406438.3	+	1	1614	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	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	378						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						TTGTGGAGGTCGATGACAGGA	0.448																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1132-1134)gtC>gtT		Smith-Magenis syndrome chromosome region, candidate 8							108	107	107					17																	18220237		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18220237C>T	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.1134C>T	17.37:g.18220237C>T							p.V378V	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	1614	+			378					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.1134C>T	CCDS11195.2																																																																																				0.448	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		84	237	0	0	0	0.000147903	0	84	237					T	18220237	C	T	18220237	2	4	91	1	0	0	0	0	0	0	0	1	14842	871	31	1		1	SMCR8	17	18220237	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	10170283	18220237	62974973	132	33829											
TIAF1	9220	broad.mit.edu	37	chr17	27401055	27401056	+	Frame_Shift_Del	DEL	CA	CA	-													ggctggaggtgcggatggtcCacacacacacttgtctgcgt							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:27401055_27401056delCA	ENST00000359450.6	-	1	4819_4820	c.162_163delTG	c.(160-165)tgtggafs	p.CG54fs	TIAF1_ENST00000408971.2_Frame_Shift_Del_p.CG54fs|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	54					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGGATGGTCCACACACACACT	0.564																																						ENST00000359450.6																			0				kidney(1)|lung(1)|urinary_tract(1)	3						c.(160-165)tggafs		TGFB1-induced anti-apoptotic factor 1																																				SO:0001589	frameshift_variant	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27401055_27401056delCA	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.162_163delTG	17.37:g.27401063_27401064delCA	ENSP00000352424:p.Cys54fs					MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000531253.1_3'UTR|TIAF1_ENST00000408971.2_Frame_Shift_Del_p.CG54fs|MYO18A_ENST00000529578.1_5'UTR	p.CG54fs	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	4819_4820	-	Lung NSC(42;0.015)		54					A2RRE2|Q6PEG2	Frame_Shift_Del	DEL	ENST00000359450.6	37	c.162_163delTG	CCDS32599.1																																																																																				0.564	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		7	376						7	376	---	---	---	---	-	27401056	CA	-	27401055	7	5	91	1	0	1	0	1	0	0	0	0	15940	603	21	0	188	0	TIAF1	17	27401055	Frame_Shift_Del	DEL	CA	TCGA-IB-A7M4-01A-11D-A36O-08	9180818	27401055	53794155	133	33830											
SLFN13	146857	broad.mit.edu	37	chr17	33767722	33767722	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggatcccaaacactatgctCctttccaggcctgagaatcg	8	13	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:33767722C>T	ENST00000285013.6	-	6	2861	c.2586G>A	c.(2584-2586)agG>agA	p.R862R	SLFN13_ENST00000534689.1_Silent_p.R544R|SLFN13_ENST00000360502.2_Silent_p.R544R|SLFN13_ENST00000542635.1_Silent_p.R862R|SLFN13_ENST00000526861.1_Silent_p.R862R|SLFN13_ENST00000533791.1_Silent_p.R862R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	862						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACACTATGCTCCTTTCCAGGC	0.478																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(2584-2586)agG>agA		schlafen family member 13							229	202	211					17																	33767722		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33767722C>T	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2586G>A	17.37:g.33767722C>T						SLFN13_ENST00000360502.2_Silent_p.R544R|SLFN13_ENST00000542635.1_Silent_p.R862R|SLFN13_ENST00000533791.1_Silent_p.R862R|SLFN13_ENST00000534689.1_Silent_p.R544R|SLFN13_ENST00000526861.1_Silent_p.R862R	p.R862R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	6	2861	-			862					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.2586G>A	CCDS32620.1																																																																																				0.478	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		15	806	0	0	0	5.01169e-05	0	15	806					T	33767722	C	T	33767722	2	4	91	1	0	0	0	0	0	0	0	1	14786	854	30	2		2	SLFN13	17	33767722	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	6366667	33767722	47427488	134	33831											
SPATA20	64847	broad.mit.edu	37	chr17	48631760	48631760	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcgtcgtgtcccggtggcGttgcccgagatggtccgcgc	16	13	0	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:48631760G>A	ENST00000356488.4	+	14	2141	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	SPATA20_ENST00000393244.3_Silent_p.A642A|CACNA1G-AS1_ENST00000505793.1_RNA|SPATA20_ENST00000006658.6_Silent_p.A702A|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	686					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)			TCCCGGTGGCGTTGCCCGAGA	0.647																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2104-2106)gcG>gcA		spermatogenesis associated 20							114	94	101					17																	48631760		2203	4300	6503	SO:0001819	synonymous_variant	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631760G>A		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.2058G>A	17.37:g.48631760G>A						SPATA20_ENST00000356488.4_Silent_p.A686A|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Silent_p.A642A	p.A702A	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		15	2226	+	Breast(11;1.23e-18)		686					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Silent	SNP	ENST00000356488.4	37	c.2106G>A	CCDS58563.1																																																																																				0.647	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		5	411	0	0	0	1.23904e-05	0	5	411					A	48631760	G	A	48631760	2	1	91	1	0	0	0	0	0	0	0	1	15058	1132	40	1		1	SPATA20	17	48631760	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	14864038	48631760	32563450	135	33832											
CLTC	1213	broad.mit.edu	37	chr17	57725004	57725004	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgcaaaacaaaagtggttaCttctgactggtatatctgca	8	7	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:57725004C>A	ENST00000269122.3	+	3	770	c.496C>A	c.(496-498)Ctt>Att	p.L166I	CLTC_ENST00000393043.1_Missense_Mutation_p.L166I|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	166	Globular terminal domain.|WD40-like repeat 4.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAAGTGGTTACTTCTGACTGG	0.393			T	"ALK, TFE3"	"ALCL, renal "																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"clathrin, heavy polypeptide (Hc)"			L	"ALK, TFE3"		"ALCL, renal "	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(496-498)Ctt>Att		clathrin, heavy chain (Hc)							112	107	109					17																	57725004		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57725004C>A	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.496C>A	17.37:g.57725004C>A	ENSP00000269122:p.Leu166Ile					CLTC_ENST00000393043.1_Missense_Mutation_p.L166I|CLTC_ENST00000579456.1_Intron	p.L166I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			3	770	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		166			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.496C>A	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210186	0.58343	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.42513	0.97;0.97	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.50333	1.59	0.80722	D	1	D;B	0.56968	0.978;0.001	D;B	0.77557	0.99;0.015	T	0.53885	-0.8375	10	0.42905	T	0.14	.	15.153	0.72717	0.0:0.931:0.0:0.069	.	166;166	Q00610;Q00610-2	CLH1_HUMAN;.	I	166	ENSP00000269122:L166I;ENSP00000376763:L166I	ENSP00000269122:L166I	L	+	1	0	CLTC	55079786	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.985000	0.63845	2.739000	0.93911	0.655000	0.94253	CTT		0.393	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		101	387	1	0	6.17951e-33	0.000147903	5.97652e-31	101	387					A	57725004	C	A	57725004	3	1	91	1	0	0	0	0	1	0	0	0	3575	565	20	3	506	3	CLTC	17	57725004	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	9093244	57725004	23470206	136	33833											
ROCK1	6093	broad.mit.edu	37	chr18	18567059	18567059	+	Frame_Shift_Del	DEL	T	T	-													cttctctttcttctttcagcTttttttccatctctgggaaa							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:18567059delT	ENST00000399799.2	-	19	3096	c.2156delA	c.(2155-2157)aagfs	p.K719fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	719	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTTTCAGCTTTTTTTCCAT	0.368																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(2155-2157)agfs		Rho-associated, coiled-coil containing protein kinase 1							109	103	105					18																	18567059		2203	4300	6503	SO:0001589	frameshift_variant	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18567059delT		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.2156delA	18.37:g.18567059delT	ENSP00000382697:p.Lys719fs						p.K719fs	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			19	3096	-	Melanoma(1;0.165)		719			Glu-rich.|Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Frame_Shift_Del	DEL	ENST00000399799.2	37	c.2156delA	CCDS11870.2																																																																																				0.368	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	499						7	499	---	---	---	---	-	18567059	T	-	18567059	7	5	91	1	0	1	0	1	0	0	0	0	13567	1609	56	0	1968	0	ROCK1	18	18567059	Frame_Shift_Del	DEL	T	TCGA-IB-A7M4-01A-11D-A36O-08		18567059	59510189	137	33834											
ZNF521	25925	broad.mit.edu	37	chr18	22806481	22806481	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcaggcatggcagaaacaatCagacctgggtcctgagcttc	12	11	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:22806481C>T	ENST00000361524.3	-	4	1549	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	ZNF521_ENST00000584787.1_Silent_p.L247L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.L467L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	467					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)					CAGAAACAATCAGACCTGGGT	0.463			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(1399-1401)ctG>ctA		zinc finger protein 521							89	88	88					18																	22806481		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806481C>T	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.1401G>A	18.37:g.22806481C>T						ZNF521_ENST00000538137.2_Silent_p.L467L|ZNF521_ENST00000584787.1_Silent_p.L247L	p.L467L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	1549	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		467					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.1401G>A	CCDS32806.1																																																																																				0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		21	418	0	0	0	0.000132079	0	21	418					T	22806481	C	T	22806481	2	4	91	1	0	0	0	0	0	0	0	1	18018	813	29	2		2	ZNF521	18	22806481	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	4239422	22806481	55270767	138	33835											
KLHL14	57565	broad.mit.edu	37	chr18	30322007	30322007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcattttcttgttagagCgaattcttcacccaaaacaa	5	10	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:30322007C>T	ENST00000359358.4	-	3	1391	c.953G>A	c.(952-954)cGc>cAc	p.R318H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R318H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	318						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.R318H(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CTTGTTAGAGCGAATTCTTCA	0.428																																						ENST00000359358.4																			1	Substitution - Missense(1)	p.R318H(1)	breast(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(952-954)cGc>cAc		kelch-like family member 14							97	92	94					18																	30322007		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30322007C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.953G>A	18.37:g.30322007C>T	ENSP00000352314:p.Arg318His					KLHL14_ENST00000358095.4_Missense_Mutation_p.R318H	p.R318H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			3	1391	-			318					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.953G>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025617	0.75390	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;D	0.81996	-1.21;-1.56	6.11	6.11	0.99139	Galactose oxidase, beta-propeller (1);	0.053328	0.85682	D	0.000000	D	0.92267	0.7547	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.92111	0.5696	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	318	Q9P2G3	KLH14_HUMAN	H	318	ENSP00000352314:R318H;ENSP00000350808:R318H	ENSP00000350808:R318H	R	-	2	0	KLHL14	28576005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.906000	0.99361	0.655000	0.94253	CGC		0.428	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			9	345	0	0	0	6.40141e-05	0	9	345					T	30322007	C	T	30322007	3	4	91	1	0	0	0	0	1	0	0	0	8400	768	27	1	961	1	KLHL14	18	30322007	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	7515526	30322007	47755241	139	33836											
DCC	1630	broad.mit.edu	37	chr18	50912488	50912488	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcctctttatgaaagtgCcaccaccaggtctataaccg	7	12	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:50912488C>T	ENST00000442544.2	+	16	3051	c.2435C>T	c.(2434-2436)gCc>gTc	p.A812V	DCC_ENST00000412726.1_Missense_Mutation_p.A660V|DCC_ENST00000581580.1_Missense_Mutation_p.A467V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	812	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)		TATGAAAGTGCCACCACCAGG	0.333																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2434-2436)gCc>gTc		deleted in colorectal carcinoma							91	87	88					18																	50912488		2203	4299	6502	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50912488C>T	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.2435C>T	18.37:g.50912488C>T	ENSP00000389140:p.Ala812Val					DCC_ENST00000412726.1_Missense_Mutation_p.A660V|DCC_ENST00000581580.1_Missense_Mutation_p.A467V	p.A812V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	16	3051	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	812			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2435C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510566	0.64522	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.54866	2.03;0.55	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	N	0.04018	-0.295	0.58432	D	0.999999	B;B;P	0.51537	0.221;0.221;0.946	B;B;P	0.46796	0.085;0.085;0.527	T	0.39333	-0.9619	10	0.33141	T	0.24	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	660;660;812	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	V	812;745;660	ENSP00000389140:A812V;ENSP00000397322:A660V	ENSP00000304146:A745V	A	+	2	0	DCC	49166486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.481000	0.81124	2.941000	0.99782	0.655000	0.94253	GCC		0.333	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	470	0	0	0	8.12818e-05	0	5	470					T	50912488	C	T	50912488	3	4	91	1	0	0	0	0	1	0	0	0	4293	739	26	2	2497	2	DCC	18	50912488	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	20590481	50912488	27164760	140	33837											
CDH20	28316	broad.mit.edu	37	chr18	59217416	59217416	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctcccagtcagtttgagCcggggcgccctcattgccat	11	14	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:59217416C>T	ENST00000262717.4	+	11	2252	c.1854C>T	c.(1852-1854)agC>agT	p.S618S	CDH20_ENST00000536675.2_Silent_p.S618S|CDH20_ENST00000538374.1_Silent_p.S618S			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	618					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)				TCAGTTTGAGCCGGGGCGCCC	0.597																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(1852-1854)agC>agT		cadherin 20, type 2							77	60	66					18																	59217416		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59217416C>T	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.1854C>T	18.37:g.59217416C>T						CDH20_ENST00000538374.1_Silent_p.S618S|CDH20_ENST00000536675.2_Silent_p.S618S	p.S618S			Q9HBT6	CAD20_HUMAN			11	2252	+		Colorectal(73;0.186)	618					Q495S3	Silent	SNP	ENST00000262717.4	37	c.1854C>T	CCDS11977.1																																																																																				0.597	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		5	319	0	0	0	1.23904e-05	0	5	319					T	59217416	C	T	59217416	2	4	91	1	0	0	0	0	0	0	0	1	3115	738	26	2		2	CDH20	18	59217416	Silent	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	8304928	59217416	18859832	141	33838											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	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.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	243						8	243	---	---	---	---	-	11038364	GCT	-	11038362	7	5	91	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-IB-A7M4-01A-11D-A36O-08		11038362	48090621	142	33839											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		11	812	0	0	0	6.40141e-05	0	11	812					A	12575498	G	A	12575498	3	1	91	1	0	0	0	0	1	0	0	0	18166	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	1537136	12575498	46553485	143	33840											
CYP4F22	126410	broad.mit.edu	37	chr19	15655075	15655075	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgaaaggccgggagcTggaggagctggagtggtgag	20	5	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:15655075T>C	ENST00000269703.3	+	10	1320	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	CYP4F22_ENST00000601005.2_Missense_Mutation_p.L374P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	374						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						GGCCGGGAGCTGGAGGAGCTG	0.542																																						ENST00000269703.2																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(1120-1122)cTg>cCg		cytochrome P450, family 4, subfamily F, polypeptide 22							48	44	45					19																	15655075		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15655075T>C		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.1121T>C	19.37:g.15655075T>C	ENSP00000269703:p.Leu374Pro					CYP4F22_ENST00000601005.2_Missense_Mutation_p.L374P	p.L374P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN			10	1320	+			374					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.1121T>C	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	T	0.522	-0.861607	0.02610	.	.	ENSG00000171954	ENST00000269703	T	0.67523	-0.27	5.21	1.34	0.21922	.	0.814660	0.10833	N	0.629139	T	0.31009	0.0783	N	0.01493	-0.835	0.39648	D	0.970427	B	0.02656	0.0	B	0.06405	0.002	T	0.17715	-1.0360	10	0.13108	T	0.6	.	3.4617	0.07535	0.1692:0.2777:0.0:0.5531	.	374	Q6NT55	CP4FN_HUMAN	P	374	ENSP00000269703:L374P	ENSP00000269703:L374P	L	+	2	0	CYP4F22	15516075	0.170000	0.23016	0.998000	0.56505	0.993000	0.82548	0.276000	0.18716	0.272000	0.22027	0.496000	0.49642	CTG		0.542	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		7	148	0	0	0	8.12818e-05	0	7	148					C	15655075	T	C	15655075	3	2	91	1	0	0	0	0	1	0	0	0	4200	1580	55	4	1151	4	CYP4F22	19	15655075	Missense_Mutation	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	3079577	15655075	43473908	144	33841											
DPY19L3	147991	broad.mit.edu	37	chr19	32971419	32971419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctacgagcggaggcaccgcCggggctgccgactccgggac	17	15	0	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:32971419C>T	ENST00000342179.5	+	18	2160	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	DPY19L3_ENST00000586987.1_Missense_Mutation_p.R649W|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R649W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	649						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)					GAGGCACCGCCGGGGCTGCCG	0.632																																						ENST00000342179.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32						c.(1945-1947)Cgg>Tgg		dpy-19-like 3 (C. elegans)							40	41	40					19																	32971419		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32971419C>T		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.1945C>T	19.37:g.32971419C>T	ENSP00000344937:p.Arg649Trp					DPY19L3_ENST00000586987.1_Missense_Mutation_p.R649W|DPY19L3_ENST00000392250.2_Missense_Mutation_p.R649W	p.R649W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN			18	2160	+	Esophageal squamous(110;0.162)		649					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1945C>T	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596002	0.86953	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.56776	0.44;0.44	5.43	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.77103	2.36	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	T	0.74172	-0.3751	10	0.72032	D	0.01	-13.2638	11.7833	0.52028	0.6264:0.3736:0.0:0.0	.	649	Q6ZPD9	D19L3_HUMAN	W	649	ENSP00000376081:R649W;ENSP00000344937:R649W	ENSP00000344937:R649W	R	+	1	2	DPY19L3	37663259	0.949000	0.32298	0.934000	0.37439	0.968000	0.65278	1.706000	0.37878	1.214000	0.43395	0.563000	0.77884	CGG		0.632	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		13	226	0	0	0	1.49906e-05	0	13	226					T	32971419	C	T	32971419	3	4	91	1	0	0	0	0	1	0	0	0	4758	643	23	1	2011	1	DPY19L3	19	32971419	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	17316344	32971419	26157564	145	33842											
ZNF569	148266	broad.mit.edu	37	chr19	37903725	37903725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctttgggagaaggcttttCcacatttattacattcatag	8	7	1	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:37903725C>T	ENST00000316950.6	-	6	2392	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	ZNF569_ENST00000392150.2_Missense_Mutation_p.G453E|ZNF569_ENST00000392149.2_Missense_Mutation_p.G612E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	612					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)			GAAGGCTTTTCCACATTTATT	0.408																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1834-1836)gGa>gAa		zinc finger protein 569							116	114	115					19																	37903725		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903725C>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1835G>A	19.37:g.37903725C>T	ENSP00000325018:p.Gly612Glu					ZNF569_ENST00000392150.2_Missense_Mutation_p.G453E|ZNF569_ENST00000392149.2_Missense_Mutation_p.G612E	p.G612E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2392	-			612					A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.1835G>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575704	0.65878	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.58210	0.35;0.35	4.1	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62109	0.2401	L	0.46819	1.47	0.44890	D	0.997908	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.63328	-0.6662	9	0.62326	D	0.03	.	11.1105	0.48230	0.0:0.9057:0.0:0.0943	.	453;612	Q17RR6;Q5MCW4	.;ZN569_HUMAN	E	612;268;453	ENSP00000325018:G612E;ENSP00000375993:G453E	ENSP00000325018:G612E	G	-	2	0	ZNF569	42595565	0.996000	0.38824	0.999000	0.59377	0.998000	0.95712	2.285000	0.43487	1.061000	0.40601	0.655000	0.94253	GGA		0.408	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		170	509	0	0	0	0.000147903	0	170	509					T	37903725	C	T	37903725	3	4	91	1	0	0	0	0	1	0	0	0	18053	855	30	2	229	2	ZNF569	19	37903725	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	4932306	37903725	21225258	146	33843											
ZNF613	79898	broad.mit.edu	37	chr19	52448407	52448407	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatcgacgtactcacactgGagagaaaccctatgtatgca	8	11	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:52448407G>A	ENST00000293471.6	+	6	1950	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G388E|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	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)			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)		ACTCACACTGGAGAGAAACCC	0.418																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1270-1272)gGa>gAa		zinc finger protein 613							74	70	71					19																	52448407		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448407G>A	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.1271G>A	19.37:g.52448407G>A	ENSP00000293471:p.Gly424Glu					ZNF613_ENST00000391794.4_Missense_Mutation_p.G388E|ZNF613_ENST00000601794.1_3'UTR	p.G424E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1950	+		all_neural(266;0.117)	424					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1271G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114923	0.56505	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.25749	1.78;4.74	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002329	T	0.37732	0.1014	L	0.31476	0.935	0.31474	N	0.66797	D	0.89917	1.0	D	0.97110	1.0	T	0.43686	-0.9376	10	0.87932	D	0	.	14.0307	0.64613	0.0:0.0:1.0:0.0	.	424	Q6PF04	ZN613_HUMAN	E	424;388;98	ENSP00000293471:G424E;ENSP00000375671:G388E	ENSP00000293471:G424E	G	+	2	0	ZNF613	57140219	0.974000	0.33945	0.998000	0.56505	0.929000	0.56500	1.109000	0.31135	1.890000	0.54733	0.655000	0.94253	GGA		0.418	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		9	357	0	0	0	1.12685e-05	0	9	357					A	52448407	G	A	52448407	3	1	91	1	0	0	0	0	1	0	0	0	18091	1174	41	2	1285	2	ZNF613	19	52448407	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	14544682	52448407	6680576	147	33844											
TMC4	147798	broad.mit.edu	37	chr19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-													cctttctgctccttcctccaTcctcctcctcctcctccagc							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				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)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	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.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	343						7	343	---	---	---	---	-	54675749	TCC	-	54675747	7	5	91	1	0	1	0	1	0	0	0	0	16039	1435	50	0	1991	0	TMC4	19	54675747	In_Frame_Del	DEL	TCC	TCGA-IB-A7M4-01A-11D-A36O-08	2227340	54675747	4453236	148	33845											
ZNF773	374928	broad.mit.edu	37	chr19	58016113	58016113	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgctcagaggctcctctaccGcaatgtgatgctggagaact	11	12	2	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:58016113G>T	ENST00000282292.4	+	2	262	c.122G>T	c.(121-123)cGc>cTc	p.R41L	ZNF773_ENST00000593916.1_Missense_Mutation_p.R40L|ZNF773_ENST00000598770.1_Missense_Mutation_p.R40L|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000599847.1_Missense_Mutation_p.R41L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	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)			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)		CTCCTCTACCGCAATGTGATG	0.527																																						ENST00000599847.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(121-123)cGc>cTc		zinc finger protein 773							127	108	115					19																	58016113		2203	4297	6500	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58016113G>T	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.122G>T	19.37:g.58016113G>T	ENSP00000282292:p.Arg41Leu					AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Missense_Mutation_p.R40L|ZNF773_ENST00000282292.4_Missense_Mutation_p.R41L|ZNF773_ENST00000593916.1_Missense_Mutation_p.R40L	p.R41L			Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	2	264	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	41			KRAB.		Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.122G>T	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	0.697	-0.792230	0.02884	.	.	ENSG00000152439	ENST00000332030;ENST00000282292	T	0.02709	4.19	1.39	-0.898	0.10550	Krueppel-associated box (4);	.	.	.	.	T	0.04861	0.0131	M	0.69523	2.12	0.09310	N	1	B;B	0.32573	0.376;0.1	B;B	0.37692	0.256;0.154	T	0.32955	-0.9887	9	0.45353	T	0.12	.	5.4787	0.16710	0.3572:0.0:0.6428:0.0	.	40;41	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	L	64;41	ENSP00000282292:R41L	ENSP00000282292:R41L	R	+	2	0	ZNF773	62707925	0.000000	0.05858	0.001000	0.08648	0.769000	0.43574	-0.343000	0.07791	-0.200000	0.10300	0.305000	0.20034	CGC		0.527	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		92	379	1	0	7.0969e-38	0.000147903	6.99663e-36	92	379					T	58016113	G	T	58016113	3	4	91	1	0	0	0	0	1	0	0	0	18199	1087	38	3	128	3	ZNF773	19	58016113	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	3340366	58016113	1112870	149	33846											
BMP2	650	broad.mit.edu	37	chr20	6759506	6759506	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttgtggctcccccggggtatCacgccttttactgccacgga	11	14	1	0			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:6759506C>G	ENST00000378827.4	+	3	2180	c.961C>G	c.(961-963)Cac>Gac	p.H321D		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	321					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						CCCGGGGTATCACGCCTTTTA	0.512																																						ENST00000378827.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						c.(961-963)Cac>Gac		bone morphogenetic protein 2	Simvastatin(DB00641)						160	134	143					20																	6759506		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6759506C>G		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.961C>G	20.37:g.6759506C>G	ENSP00000368104:p.His321Asp						p.H321D	NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN			3	2180	+			321						Missense_Mutation	SNP	ENST00000378827.4	37	c.961C>G	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	8.617	0.890572	0.17613	.	.	ENSG00000125845	ENST00000378827	D	0.83673	-1.75	5.57	5.57	0.84162	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.132179	0.64402	D	0.000002	T	0.69378	0.3104	N	0.10664	0.02	0.53005	D	0.999968	B	0.14012	0.009	B	0.15052	0.012	T	0.65944	-0.6045	10	0.52906	T	0.07	.	14.6309	0.68655	0.1798:0.8202:0.0:0.0	.	321	P12643	BMP2_HUMAN	D	321	ENSP00000368104:H321D	ENSP00000368104:H321D	H	+	1	0	BMP2	6707506	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.436000	0.44819	2.775000	0.95449	0.650000	0.86243	CAC		0.512	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			19	223	0	0	0	4.16121e-05	0	19	223					G	6759506	C	G	6759506	3	3	91	1	0	0	0	0	1	0	0	0	1461	826	29	5	967	5	BMP2	20	6759506	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08		6759506	56266014	150	33847											
HM13	81502	broad.mit.edu	37	chr20	30125989	30125989	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atttctgcctcagatattctCccaggagtacatcaacctcc	5	14	4	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30125989C>G	ENST00000340852.5	+	3	414	c.290C>G	c.(289-291)tCc>tGc	p.S97C	HM13_ENST00000398174.3_Missense_Mutation_p.S97C|HM13_ENST00000335574.5_Missense_Mutation_p.S97C|HM13_ENST00000376127.3_Missense_Mutation_p.S97C	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	97					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)			CAGATATTCTCCCAGGAGTAC	0.512																																						ENST00000335574.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(289-291)tCc>tGc		histocompatibility (minor) 13							123	106	111					20																	30125989		2203	4300	6503	SO:0001583	missense	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30125989C>G	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.290C>G	20.37:g.30125989C>G	ENSP00000343032:p.Ser97Cys					HM13_ENST00000398174.3_Missense_Mutation_p.S97C|HM13_ENST00000376127.3_Missense_Mutation_p.S97C|HM13_ENST00000340852.5_Missense_Mutation_p.S97C	p.S97C	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		3	414	+	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)		97					B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	ENST00000340852.5	37	c.290C>G	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826944	0.90955	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.46	5.46	0.80206	.	0.098626	0.64402	D	0.000001	T	0.57666	0.2069	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	0.79108	0.992;0.987;0.982;0.987	T	0.67692	-0.5605	10	0.62326	D	0.03	-3.5946	17.8794	0.88835	0.0:1.0:0.0:0.0	.	97;97;97;97	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	C	97	ENSP00000335294:S97C;ENSP00000343032:S97C;ENSP00000381237:S97C;ENSP00000365296:S97C;ENSP00000341347:S97C	ENSP00000335294:S97C	S	+	2	0	HM13	29589650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.840000	0.75369	2.567000	0.86603	0.655000	0.94253	TCC		0.512	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	NM_178580		68	385	0	0	0	0.000147903	0	68	385					G	30125989	C	G	30125989	3	3	91	1	0	0	0	0	1	0	0	0	7247	855	30	5	300	5	HM13	20	30125989	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	23366483	30125989	32899531	151	33848											
MYLK2	85366	broad.mit.edu	37	chr20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacacagcatcgagggcGgagagctcttcgagaggatt	15	9	1	2			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	365	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CATCGAGGGCGGAGAGCTCTT	0.587																																						ENST00000375994.2																			0				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						c.(1093-1095)Gga>Aga		myosin light chain kinase 2							119	95	103					20																	30414610		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30414610G>A	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.1093G>A	20.37:g.30414610G>A	ENSP00000365162:p.Gly365Arg					MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R	p.G365R			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		7	1366	+			365			Protein kinase.		Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.1093G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370531	0.82573	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.57273	0.41;0.41	3.66	3.66	0.41972	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	0.70168	0.3193	M	0.83012	2.62	0.58432	D	0.999999	D	0.67145	0.996	P	0.59595	0.86	T	0.77606	-0.2525	9	0.87932	D	0	.	14.5797	0.68278	0.0:0.0:1.0:0.0	.	365	Q9H1R3	MYLK2_HUMAN	R	365	ENSP00000365162:G365R;ENSP00000365152:G365R	ENSP00000365152:G365R	G	+	1	0	MYLK2	29878271	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.494000	0.97962	1.882000	0.54519	0.435000	0.28638	GGA		0.587	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		6	169	0	0	0	3.59834e-05	0	6	169					A	30414610	G	A	30414610	3	1	91	1	0	0	0	0	1	0	0	0	10098	1117	39	1	1119	1	MYLK2	20	30414610	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	288621	30414610	32610910	152	33849											
TOP1	7150	broad.mit.edu	37	chr20	39750710	39750710	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttgatgaagctggaagttCaagccacagaccgagaggaa	13	7	1	4	rs193297810		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:39750710C>A	ENST00000361337.2	+	20	2360	c.2110C>A	c.(2110-2112)Caa>Aaa	p.Q704K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	704					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)	GCTGGAAGTTCAAGCCACAGA	0.478			T	NUP98	AML*																																	ENST00000361337.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				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						c.(2110-2112)Caa>Aaa		topoisomerase (DNA) I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						92	89	90					20																	39750710		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39750710C>A		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.2110C>A	20.37:g.39750710C>A	ENSP00000354522:p.Gln704Lys					RP1-1J6.2_ENST00000454626.1_RNA	p.Q704K	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN			20	2360	+		Myeloproliferative disorder(115;0.00878)	704					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.2110C>A	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595991	0.66332	.	.	ENSG00000198900	ENST00000361337	T	0.47869	0.83	5.91	4.93	0.64822	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);	0.101665	0.64402	D	0.000001	T	0.50531	0.1621	M	0.67569	2.06	0.80722	D	1	B	0.20261	0.043	B	0.26969	0.075	T	0.50825	-0.8782	10	0.52906	T	0.07	-14.8363	16.5333	0.84366	0.131:0.869:0.0:0.0	.	704	P11387	TOP1_HUMAN	K	704	ENSP00000354522:Q704K	ENSP00000354522:Q704K	Q	+	1	0	TOP1	39184124	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.802000	0.62539	2.793000	0.96121	0.655000	0.94253	CAA		0.478	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			17	604	1	0	2.4624e-09	0.000132079	2.32271e-07	17	604					A	39750710	C	A	39750710	3	1	91	1	0	0	0	0	1	0	0	0	16416	827	29	3	2188	3	TOP1	20	39750710	Missense_Mutation	SNP	C	TCGA-IB-A7M4-01A-11D-A36O-08	9336100	39750710	23274810	153	33850											
GDAP1L1	78997	broad.mit.edu	37	chr20	42907925	42907926	+	Frame_Shift_Ins	INS	-	-	A													ttgcctactggtacctcaagINSaaaaaatacatctagggcca							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:42907925_42907926insA	ENST00000342560.5	+	6	1177_1178	c.1089_1090insA	c.(1090-1092)aaafs	p.K364fs	GDAP1L1_ENST00000537864.1_Frame_Shift_Ins_p.K172fs	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	364										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTACCTCAAGAAAAAATACAT	0.559																																						ENST00000342560.5																			0				endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18						c.(1087-1092)aaaaaafs		ganglioside induced differentiation associated protein 1-like 1																																				SO:0001589	frameshift_variant	78997							g.chr20:42907925_42907926insA		CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1095dupA	20.37:g.42907931_42907931dupA	ENSP00000341782:p.Lys364fs					GDAP1L1_ENST00000537864.1_Frame_Shift_Ins_p.KK171fs	p.KK363fs	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1177_1178	+		Myeloproliferative disorder(115;0.0122)	363					B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Frame_Shift_Ins	INS	ENST00000342560.5	37	c.1089_1090insA	CCDS13328.1																																																																																				0.559	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079356.1	NM_024034		9	683						9	683	---	---	---	---	A	42907926	-	A	42907925	7	5	91	1	0	1	1	0	0	0	0	0	6336	933	33	0	1111	0	GDAP1L1	20	42907925	Frame_Shift_Ins	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08	3157215	42907925	20117595	154	33851											
ADAMTS5	11096	broad.mit.edu	37	chr21	28315795	28315795	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggatggaagacattaagcGcttatcttctgtggaaccaa	10	7	2	1			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:28315795G>A	ENST00000284987.5	-	3	1430	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	437	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACATTAAGCGCTTATCTTCT	0.453																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1309-1311)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 5							114	100	105					21																	28315795		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28315795G>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1309C>T	21.37:g.28315795G>A	ENSP00000284987:p.Arg437Cys						p.R437C	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			3	1430	-			437			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1309C>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445910	0.84101	.	.	ENSG00000154736	ENST00000284987	T	0.21543	2.0	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	N	0.00405	-1.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.60556	-0.7240	10	0.87932	D	0	.	15.0918	0.72201	0.0:0.0:0.858:0.142	.	437	Q9UNA0	ATS5_HUMAN	C	437	ENSP00000284987:R437C	ENSP00000284987:R437C	R	-	1	0	ADAMTS5	27237666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.848000	0.62874	2.828000	0.97474	0.650000	0.86243	CGC		0.453	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			9	235	0	0	0	2.17888e-05	0	9	235					A	28315795	G	A	28315795	3	1	91	1	0	0	0	0	1	0	0	0	269	1087	38	1	1507	1	ADAMTS5	21	28315795	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		28315795	19814100	155	33852											
SON	6651	broad.mit.edu	37	chr21	34922623	34922623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagaccgcaggagttgccGgagctgcctaagaccacagc	12	13	0	2	rs143771064		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:34922623G>A	ENST00000356577.4	+	3	1561	c.1086G>A	c.(1084-1086)ccG>ccA	p.P362P	SON_ENST00000300278.4_Silent_p.P362P|SON_ENST00000381679.4_Silent_p.P362P|SON_ENST00000290239.6_Silent_p.P362P|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	362					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						AGGAGTTGCCGGAGCTGCCTA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		21762	0.001		0.0	False		,,,				2504	0.0					ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1084-1086)ccG>ccA		SON DNA binding protein		G	,	1,4405	2.1+/-5.4	0,1,2202	101	109	106		1086,1086	5.3	1	21	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SON	NM_032195.1,NM_138927.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	362/2304,362/2427	34922623	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34922623G>A	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.1086G>A	21.37:g.34922623G>A						SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.P362P|SON_ENST00000290239.6_Silent_p.P362P|SON_ENST00000300278.4_Silent_p.P362P	p.P362P	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	1561	+			362					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.1086G>A	CCDS13629.1																																																																																				0.587	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		7	452	0	0	0	5.18039e-06	0	7	452					A	34922623	G	A	34922623	2	1	91	1	0	0	0	0	0	0	0	1	14976	1103	39	1		1	SON	21	34922623	Silent	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08	6606828	34922623	13207272	156	33853											
MORC3	23515	broad.mit.edu	37	chr21	37741376	37741378	+	In_Frame_Del	DEL	TGA	TGA	-													gaaaattcagtttataaaggTgatgatgatgatgaagatgt					rs373727187		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:37741376_37741378delTGA	ENST00000400485.1	+	15	1786_1788	c.1710_1712delTGA	c.(1708-1713)ggtgat>ggt	p.D574del	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	574					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						TTTATAAAGGTGATGATGATGAT	0.365																																						ENST00000400485.1																			0				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						c.(1708-1713)ggt>gg		MORC family CW-type zinc finger 3																																				SO:0001651	inframe_deletion	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741376_37741378delTGA	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.1710_1712delTGA	21.37:g.37741385_37741387delTGA	ENSP00000383333:p.Asp574del					MORC3_ENST00000487909.1_3'UTR	p.GD570del	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	1786_1788	+			570					A8KA92|Q9UEZ2	In_Frame_Del	DEL	ENST00000400485.1	37	c.1710_1712delTGA	CCDS42924.1																																																																																				0.365	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		8	571						8	571	---	---	---	---	-	37741378	TGA	-	37741376	7	5	91	1	0	1	0	1	0	0	0	0	9744	1683	59	0	1768	0	MORC3	21	37741376	In_Frame_Del	DEL	TGA	TCGA-IB-A7M4-01A-11D-A36O-08	2818753	37741376	10388519	157	33854											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-													ggatggcctggtagttgtggTgctgctgctgctgctggttg					rs200555648	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del|MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	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.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.66	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	190						7	190	---	---	---	---	-	40816889	TGC	-	40816887	7	5	91	1	0	1	0	1	0	0	0	0	9642	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-IB-A7M4-01A-11D-A36O-08		40816887	10487679	158	33855											
NHS	4810	broad.mit.edu	37	chrX	17745920	17745920	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tgaagaatcgctgcgatccaGaaaccataacatcagctggt	9	10	1	3			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:17745920G>C	ENST00000380060.3	+	6	3969	c.3631G>C	c.(3631-3633)Gaa>Caa	p.E1211Q	NHS_ENST00000398097.3_Missense_Mutation_p.E1055Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1232					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)					CTGCGATCCAGAAACCATAAC	0.408																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(3631-3633)Gaa>Caa		Nance-Horan syndrome (congenital cataracts and dental anomalies)							86	85	85					X																	17745920		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17745920G>C		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3631G>C	X.37:g.17745920G>C	ENSP00000369400:p.Glu1211Gln					NHS_ENST00000398097.3_Missense_Mutation_p.E1055Q	p.E1211Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	3969	+	Hepatocellular(33;0.183)		1211					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.3631G>C	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714361	0.30413	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.50277	0.8;0.75	5.79	5.79	0.91817	.	0.270289	0.35970	N	0.002870	T	0.47544	0.1451	L	0.54323	1.7	0.24754	N	0.992961	P;P;P;P	0.51933	0.919;0.919;0.919;0.949	P;P;P;P	0.47346	0.51;0.51;0.51;0.544	T	0.45381	-0.9265	10	0.17832	T	0.49	-17.3353	13.2279	0.59924	0.0773:0.0:0.9227:0.0	.	1232;1053;1055;1211	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Q	1211;1055;1053	ENSP00000369400:E1211Q;ENSP00000381170:E1055Q	ENSP00000369397:E1053Q	E	+	1	0	NHS	17655841	1.000000	0.71417	0.952000	0.39060	0.101000	0.19017	4.755000	0.62198	2.444000	0.82710	0.544000	0.68410	GAA		0.408	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		13	355	0	0	0	1.49906e-05	0	13	355					C	17745920	G	C	17745920	3	2	91	1	0	0	0	0	1	0	0	0	10453	943	33	5	3758	5	NHS	23	17745920	Missense_Mutation	SNP	G	TCGA-IB-A7M4-01A-11D-A36O-08		17745920	137524640	159	33856											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			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)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	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.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		9	31						9	31	---	---	---	---	-	50350713	TCC	-	50350711	7	5	91	1	0	1	0	1	0	0	0	0	14346	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-IB-A7M4-01A-11D-A36O-08	32604791	50350711	104919849	160	33857											
FAM133A	286499	broad.mit.edu	37	chrX	92964973	92964973	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaagaaaagttacccTgatgataaacctttatcatc	5	7	1	4			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:92964973T>C	ENST00000355813.5	+	4	1081	c.555T>C	c.(553-555)ccT>ccC	p.P185P	FAM133A_ENST00000322139.4_Silent_p.P185P|FAM133A_ENST00000538690.1_Silent_p.P185P|FAM133A_ENST00000332647.4_Silent_p.P185P	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	185	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGTTACCCTGATGATAAAC	0.368																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(553-555)ccT>ccC		family with sequence similarity 133, member A							25	23	23					X																	92964973		2202	4297	6499	SO:0001819	synonymous_variant	286499							g.chrX:92964973T>C	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.555T>C	X.37:g.92964973T>C						FAM133A_ENST00000322139.4_Silent_p.P185P|FAM133A_ENST00000332647.4_Silent_p.P185P|FAM133A_ENST00000355813.5_Silent_p.P185P	p.P185P	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	1116	+			185			Lys-rich.|Ser-rich.			Silent	SNP	ENST00000355813.5	37	c.555T>C	CCDS14466.1																																																																																				0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		7	60	0	0	0	8.12818e-05	0	7	60					C	92964973	T	C	92964973	2	2	91	1	0	0	0	0	0	0	0	1	5464	1567	55	4		4	FAM133A	23	92964973	Silent	SNP	T	TCGA-IB-A7M4-01A-11D-A36O-08	42614262	92964973	62305587	161	33858											
UTY	7404	broad.mit.edu	37	chrY	15448217	15448218	+	Splice_Site	INS	-	-	A													ctgacttttatgaagcccctINSaaaaaaaaaaaattgaaatt							TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrY:15448217_15448218insA	ENST00000331397.4	-	16	2778		c.e16-2		UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000382896.4_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						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						ATGAAGCCCCTAAAAAAAAAAA	0.361													T	2	0.00162206	0.0	0.0029	1233	,	,		21976	0.002		0.0	False		,,,				1233	0.0				Colon(103;1740 2135 40732 45171)	ENST00000331397.4																			0				kidney(1)|lung(6)	7						c.e16-2		ubiquitously transcribed tetratricopeptide repeat containing, Y-linked																																				SO:0001630	splice_region_variant	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15448217_15448218insA	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.1771-2->T	Y.37:g.15448228_15448228dupA						UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000362096.4_Splice_Site		NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN			16	2778	-								A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Splice_Site	INS	ENST00000331397.4	37		CCDS14783.1																																																																																				0.361	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	Intron	8	73						8	73	---	---	---	---	A	15448218	-	A	15448217	8	5	91	1	0	1	1	0	0	0	1	0	17161	1536	53	0	2589	0	UTY	24	15448217	Splice_Site	INS	-	TCGA-IB-A7M4-01A-11D-A36O-08		15448217	43925349	162	33859											
NBPF3	84224	broad.mit.edu	37	chr1	21795227	21795227	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcagcatggtggtatcTgccggcccttggtccggtga	14	11	2	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:21795227T>A	ENST00000318249.5	+	3	530	c.180T>A	c.(178-180)tcT>tcA	p.S60S	NBPF3_ENST00000342104.5_Silent_p.S60S|NBPF3_ENST00000318220.6_Silent_p.S4S|NBPF3_ENST00000454000.2_Intron	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	60						cytoplasm (GO:0005737)				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)		TGGTGGTATCTGCCGGCCCTT	0.512											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(10-12)tcT>tcA		neuroblastoma breakpoint family, member 3							94	107	103					1																	21795227		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21795227T>A	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.180T>A	1.37:g.21795227T>A			OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751	NBPF3_ENST00000318249.5_Silent_p.S60S|NBPF3_ENST00000342104.5_Silent_p.S60S|NBPF3_ENST00000454000.2_Intron	p.S4S			Q9H094	NBPF3_HUMAN		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)	6	1060	+		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)	60					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.12T>A	CCDS216.1																																																																																				0.512	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	703	0	0	0	1	0	7	703					A	21795227	T	A	21795227	2	1	92	1	0	0	0	0	0	0	0	1	10239	1567	55	5		5	NBPF3	1	21795227	Silent	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08		21795227	227455394	1	33860											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			7	899						7	899	---	---	---	---	-	74957826	CTT	-	74957824	6	5	92	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-IB-AAUM-01A-11D-A377-08	53162597	74957824	174292797	2	33861											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		15	309						15	309	---	---	---	---	-	77334279	GCA	-	77334277	7	5	92	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-IB-AAUM-01A-11D-A377-08	2376453	77334277	171916344	3	33862											
LPHN2	23266	broad.mit.edu	37	chr1	82421570	82421570	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aatggatacaggcaattgttGacacagtggacaaccttctg	10	8	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:82421570G>A	ENST00000370728.1	+	13	2476	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N			O95490	LPHN2_HUMAN	latrophilin 2	611					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)		GGCAATTGTTGACACAGTGGA	0.358																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1831-1833)Gac>Aac		latrophilin 2							109	106	107					1																	82421570		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82421570G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1831G>A	1.37:g.82421570G>A	ENSP00000359763:p.Asp611Asn					LPHN2_ENST00000370715.1_Missense_Mutation_p.D598N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D611N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D536N|LPHN2_ENST00000370723.1_Missense_Mutation_p.D598N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D598N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D598N|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.D611N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D598N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D598N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D611N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D611N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D611N	p.D611N			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	13	2476	+			611					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1831G>A		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761933	0.69763	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.60455	1.87	0.80722	D	1	P;D;D	0.71674	0.837;0.998;0.969	P;D;P	0.65987	0.535;0.94;0.709	T	0.00394	-1.1767	10	0.45353	T	0.12	.	19.6548	0.95832	0.0:0.0:1.0:0.0	.	598;598;598	O95490-3;O95490-4;O95490-2	.;.;.	N	536;611;611;611;611;598;598;598;598;598;611;598;611;611	ENSP00000359756:D536N;ENSP00000359763:D611N;ENSP00000359765:D611N;ENSP00000359762:D611N;ENSP00000359760:D611N;ENSP00000359758:D598N;ENSP00000353006:D598N;ENSP00000359750:D598N;ENSP00000359748:D598N;ENSP00000322270:D598N;ENSP00000359752:D611N;ENSP00000378344:D598N;ENSP00000271029:D611N;ENSP00000337306:D611N	ENSP00000271029:D611N	D	+	1	0	LPHN2	82194158	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.648000	0.89879	0.467000	0.42956	GAC		0.358	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		20	320	0	0	0	1	0	20	320					A	82421570	G	A	82421570	3	1	92	1	0	0	0	0	1	0	0	0	8954	1290	45	2	1822	2	LPHN2	1	82421570	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	5087293	82421570	166829051	4	33863											
AMPD1	270	broad.mit.edu	37	chr1	115217379	115217379	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcttccaactcacctttttTaaatttaggccatgagagat	6	9	1	2	rs200717164		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:115217379T>A	ENST00000520113.2	-	13	1908	c.1893A>T	c.(1891-1893)ttA>ttT	p.L631F	AMPD1_ENST00000369538.3_Missense_Mutation_p.L627F|AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	631					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)	p.L598F(2)|p.L631F(1)		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)	TCACCTTTTTTAAATTTAGGC	0.418																																						ENST00000369538.3																			3	Substitution - Missense(3)	p.L598F(2)|p.L631F(1)	endometrium(2)|pancreas(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(1879-1881)ttA>ttT		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)	T	PHE/LEU,PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	85	85	85		1893,1881	3.7	1	1		85	0,8600		0,0,4300	yes	missense,missense	AMPD1	NM_000036.2,NM_001172626.1	22,22	0,1,6502	AA,AT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging	631/781,627/777	115217379	1,13005	2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115217379T>A	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1893A>T	1.37:g.115217379T>A	ENSP00000430075:p.Leu631Phe					AMPD1_ENST00000520113.2_Missense_Mutation_p.L631F|AMPD1_ENST00000353928.6_Missense_Mutation_p.L598F	p.L627F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1928	-	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)	598					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1881A>T	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552218	0.65311	2.27E-4	0.0	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.88046	-2.33;-2.33;-2.33	5.99	3.68	0.42216	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.92964	0.7761	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92592	0.6084	10	0.87932	D	0	-11.4622	6.2611	0.20901	0.0:0.2024:0.1353:0.6624	.	627;598	Q5TF02;P23109	.;AMPD1_HUMAN	F	631;627;598	ENSP00000430075:L631F;ENSP00000358551:L627F;ENSP00000316520:L598F	ENSP00000316520:L598F	L	-	3	2	AMPD1	115018902	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	0.599000	0.24089	1.100000	0.41517	0.533000	0.62120	TTA		0.418	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			10	309	0	0	0	1	0	10	309					A	115217379	T	A	115217379	3	1	92	1	0	0	0	0	1	0	0	0	585	1751	61	5	465	5	AMPD1	1	115217379	Missense_Mutation	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08	32795809	115217379	134033242	5	33864											
FLG	2312	broad.mit.edu	37	chr1	152282688	152282688	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggttcatggtgacgtgaCcctgagtgcctggagccgtc	15	10	1	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:152282688C>T	ENST00000368799.1	-	3	4709	c.4674G>A	c.(4672-4674)ggG>ggA	p.G1558G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1558	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)			GGTGACGTGACCCTGAGTGCC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4672-4674)ggG>ggA		filaggrin							235	235	235					1																	152282688		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282688C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4674G>A	1.37:g.152282688C>T						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1558G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4709	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1558			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4674G>A	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		59	1262	0	0	0	1	0	59	1262					T	152282688	C	T	152282688	2	4	92	1	0	0	0	0	0	0	0	1	5947	494	18	2		2	FLG	1	152282688	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	37065309	152282688	96967933	6	33865											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		5	246	0	0	0	1	0	5	246					A	162769603	G	A	162769603	3	1	92	1	0	0	0	0	1	0	0	0	7418	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	10486915	162769603	86481018	7	33866											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	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						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	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.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		12	449						12	449	---	---	---	---	A	183515267	-	A	183515266	7	5	92	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-IB-AAUM-01A-11D-A377-08	20745663	183515266	65735355	8	33867											
SNRPE	6635	broad.mit.edu	37	chr1	203831342	203831342	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agaacctcatcttcagatacTtacaaaatgtacgtaagttg	6	8	3	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr1:203831342T>A	ENST00000414487.2	+	2	118	c.73T>A	c.(73-75)Tta>Ata	p.L25I	SNRPE_ENST00000367208.1_5'Flank|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	25					gene expression (GO:0010467)|hair cycle (GO:0042633)|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 complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCAGATACTTACAAAATGT	0.403																																					Ovarian(83;324 1318 17952 32395 39614)	ENST00000414487.2																			0				breast(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(73-75)Tta>Ata		small nuclear ribonucleoprotein polypeptide E							140	128	132					1																	203831342		2203	4300	6503	SO:0001583	missense	6635				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr1:203831342T>A	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.73T>A	1.37:g.203831342T>A	ENSP00000400591:p.Leu25Ile					SNRPE_ENST00000483099.1_3'UTR	p.L25I	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	118	+	all_cancers(21;0.103)		25					B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	37	c.73T>A	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501065	0.85176	.	.	ENSG00000182004	ENST00000414487	T	0.59772	0.24	5.25	1.23	0.21249	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.64402	D	0.000001	T	0.68044	0.2958	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.64506	0.926	T	0.66917	-0.5802	9	0.87932	D	0	.	6.6436	0.22923	0.0:0.5457:0.0:0.4543	.	25	P62304	RUXE_HUMAN	I	25	ENSP00000400591:L25I	ENSP00000400591:L25I	L	+	1	2	SNRPE	202097965	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.606000	0.36826	0.394000	0.25230	0.402000	0.26972	TTA		0.403	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		13	358	0	0	0	1	0	13	358					A	203831342	T	A	203831342	3	1	92	1	0	0	0	0	1	0	0	0	14917	1606	56	5	79	5	SNRPE	1	203831342	Missense_Mutation	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08	20316076	203831342	45419279	9	33868											
SUCLG1	8802	broad.mit.edu	37	chr2	84652654	84652654	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcaataattgccccgGcatgacccattcttctccca	5	17	2	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:84652654G>A	ENST00000393868.2	-	8	1109	c.899C>T	c.(898-900)gCc>gTc	p.A300V	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	300					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)	AATTGCCCCGGCATGACCCAT	0.473																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(898-900)gCc>gTc		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						142	143	142					2																	84652654		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84652654G>A	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.899C>T	2.37:g.84652654G>A	ENSP00000377446:p.Ala300Val					SUCLG1_ENST00000491123.1_5'UTR	p.A300V	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			8	1109	-			300					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.899C>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	G	32	5.160359	0.94727	.	.	ENSG00000163541	ENST00000393868	D	0.86497	-2.13	5.96	5.96	0.96718	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97626	1.0139	10	0.87932	D	0	0.8478	17.913	0.88940	0.0:0.0:1.0:0.0	.	300	P53597	SUCA_HUMAN	V	300	ENSP00000377446:A300V	ENSP00000377446:A300V	A	-	2	0	SUCLG1	84506165	1.000000	0.71417	0.324000	0.25361	0.749000	0.42624	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	GCC		0.473	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		5	629	0	0	0	1	0	5	629					A	84652654	G	A	84652654	3	1	92	1	0	0	0	0	1	0	0	0	15416	1203	42	2	149	2	SUCLG1	2	84652654	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		84652654	158546719	10	33869											
ZAP70	7535	broad.mit.edu	37	chr2	98349783	98349783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctcccacactcccaGcccacccatccacgttgact	5	21	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:98349783G>A	ENST00000264972.5	+	7	1029	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	272	Interdomain B.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CACACTCCCAGCCCACCCATC	0.706																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(814-816)Gcc>Acc		zeta-chain (TCR) associated protein kinase 70kDa							18	18	18					2																	98349783		2202	4298	6500	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98349783G>A	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.814G>A	2.37:g.98349783G>A	ENSP00000264972:p.Ala272Thr					ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.A146T	p.A272T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			7	1029	+			272			Interdomain B.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.814G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504992	0.26949	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	T;T	0.72615	-0.67;-0.67	5.36	4.47	0.54385	.	0.582850	0.15303	N	0.269546	T	0.55130	0.1901	N	0.21448	0.665	0.34249	D	0.678521	B;B	0.13145	0.007;0.003	B;B	0.17433	0.018;0.002	T	0.58222	-0.7674	10	0.23891	T	0.37	.	10.2192	0.43188	0.0926:0.0:0.9074:0.0	.	146;272	P43403-3;P43403	.;ZAP70_HUMAN	T	272;146	ENSP00000264972:A272T;ENSP00000411141:A146T	ENSP00000264972:A272T	A	+	1	0	ZAP70	97716215	0.952000	0.32445	0.997000	0.53966	0.487000	0.33371	2.503000	0.45407	1.384000	0.46424	0.655000	0.94253	GCC		0.706	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			9	113	0	0	0	1	0	9	113					A	98349783	G	A	98349783	3	1	92	1	0	0	0	0	1	0	0	0	17568	971	34	2	832	2	ZAP70	2	98349783	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	13697129	98349783	144849590	11	33870											
GORASP2	26003	broad.mit.edu	37	chr2	171822424	171822424	+	Frame_Shift_Del	DEL	A	A	-													tcttctgcagcaagctcaggAgagctgctgtcttccctccc							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:171822424delA	ENST00000234160.4	+	10	1958	c.1143delA	c.(1141-1143)ggafs	p.G381fs	GORASP2_ENST00000452526.2_Frame_Shift_Del_p.G393fs	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	381					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						CAAGCTCAGGAGAGCTGCTGT	0.602																																						ENST00000234160.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(1141-1143)ggfs		golgi reassembly stacking protein 2, 55kDa							139	112	121					2																	171822424		2203	4300	6503	SO:0001589	frameshift_variant	26003					Golgi membrane		g.chr2:171822424delA		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.1143delA	2.37:g.171822424delA	ENSP00000234160:p.Gly381fs					GORASP2_ENST00000452526.2_Frame_Shift_Del_p.G393fs	p.G381fs	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN			10	1958	+			381					B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Frame_Shift_Del	DEL	ENST00000234160.4	37	c.1143delA	CCDS33325.1																																																																																				0.602	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			13	328						13	328	---	---	---	---	-	171822424	A	-	171822424	7	5	92	1	0	1	0	1	0	0	0	0	6605	291	11	0	1181	0	GORASP2	2	171822424	Frame_Shift_Del	DEL	A	TCGA-IB-AAUM-01A-11D-A377-08	73472641	171822424	71376949	12	33871											
SLC19A3	80704	broad.mit.edu	37	chr2	228564115	228564115	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaactctacaacctgcaTggtcttcactccttggccaa	7	13	3	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:228564115T>C	ENST00000258403.3	-	3	387	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	106					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)	p.M106V(1)		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)	ACAACCTGCATGGTCTTCACT	0.527																																						ENST00000258403.3																			1	Substitution - Missense(1)	p.M106V(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(316-318)Atg>Gtg		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						122	121	122					2																	228564115		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564115T>C	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.316A>G	2.37:g.228564115T>C	ENSP00000258403:p.Met106Val					SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V|SLC19A3_ENST00000409287.1_Intron	p.M106V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	387	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	106						Missense_Mutation	SNP	ENST00000258403.3	37	c.316A>G	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758319	0.89843	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	T;T;T	0.80480	-1.38;-1.38;0.37	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);	0.068694	0.85682	D	0.000000	D	0.89546	0.6746	M	0.92555	3.32	0.80722	D	1	P;P	0.46395	0.743;0.877	P;P	0.51742	0.547;0.678	D	0.90947	0.4802	10	0.49607	T	0.09	-50.9321	16.3351	0.83056	0.0:0.0:0.0:1.0	.	102;106	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	106;102;106	ENSP00000258403:M106V;ENSP00000445519:M102V;ENSP00000399001:M106V	ENSP00000258403:M106V	M	-	1	0	SLC19A3	228272359	1.000000	0.71417	0.975000	0.42487	0.948000	0.59901	7.882000	0.87258	2.262000	0.75019	0.528000	0.53228	ATG		0.527	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			7	597	0	0	0	1	0	7	597					C	228564115	T	C	228564115	3	2	92	1	0	0	0	0	1	0	0	0	14480	1464	51	4	1190	4	SLC19A3	2	228564115	Missense_Mutation	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08	56741691	228564115	14635258	13	33872											
UGT1A3	54659	broad.mit.edu	37	chr2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcaactgtgccaacAggaagccactatctcaggtc	11	12	2	0	rs201645683	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A4_ENST00000373409.3_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	284					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	CTGTGCCAACAGGAAGCCACT	0.438													A|||	2	0.000399361	0.0	0.0	5008	,	,		20202	0.002		0.0	False		,,,				2504	0.0					ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(850-852)Agg>Ggg									82	87	86					2																	234638622		2202	4300	6502	SO:0001583	missense	0							g.chr2:234638622A>G	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"UDP glucuronosyltransferases"	12535	other	complex locus constituent		606428	"UDP glycosyltransferase 1 family, polypeptide A3"			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.850A>G	2.37:g.234638622A>G	ENSP00000418532:p.Arg284Gly					UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	p.R284G	NM_019093.2	NP_061966.1				Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	869	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.850A>G	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	a	5.773	0.327051	0.10900	.	.	ENSG00000243135	ENST00000482026	T	0.60171	0.21	4.0	1.33	0.21861	.	.	.	.	.	T	0.35128	0.0921	N	0.12422	0.21	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.20306	-1.0279	9	0.41790	T	0.15	.	6.4869	0.22093	0.7587:0.1543:0.087:0.0	.	284;284	Q5DT01;P35503	.;UD13_HUMAN	G	284	ENSP00000418532:R284G	ENSP00000418532:R284G	R	+	1	2	UGT1A3	234303361	0.003000	0.15002	0.975000	0.42487	0.949000	0.60115	2.046000	0.41260	0.378000	0.24764	0.373000	0.22412	AGG		0.438	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		18	651	0	0	0	1	0	18	651					G	234638622	A	G	234638622	3	3	92	1	0	0	0	0	1	0	0	0	17000	179	7	4	852	4	UGT1A3	2	234638622	Missense_Mutation	SNP	A	TCGA-IB-AAUM-01A-11D-A377-08	6074507	234638622	8560751	14	33873											
CNTN6	27255	broad.mit.edu	37	chr3	1415695	1415695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaatttcgtgttgttgccgGcaacagcattgggattggag	14	6	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:1415695G>A	ENST00000446702.2	+	16	2660	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D	CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D|CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D			Q9UQ52	CNTN6_HUMAN	contactin 6	678	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G678D(1)		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)		GTTGTTGCCGGCAACAGCATT	0.383																																						ENST00000446702.2																			1	Substitution - Missense(1)	p.G678D(1)	kidney(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2032-2034)gGc>gAc		contactin 6							137	131	133					3																	1415695		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415695G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2033G>A	3.37:g.1415695G>A	ENSP00000407822:p.Gly678Asp					CNTN6_ENST00000350110.2_Missense_Mutation_p.G678D|CNTN6_ENST00000539053.1_Missense_Mutation_p.G606D	p.G678D			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	16	2660	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	678			Fibronectin type-III 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2033G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535149	0.45073	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56776	0.44;0.44;0.44	4.84	3.89	0.44902	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.107766	0.41823	D	0.000811	T	0.50017	0.1591	L	0.29908	0.895	0.19300	N	0.999973	D	0.54772	0.968	P	0.54629	0.757	T	0.36432	-0.9748	10	0.42905	T	0.14	.	10.0485	0.42201	0.0:0.1484:0.6981:0.1535	.	678	Q9UQ52	CNTN6_HUMAN	D	678;606;678	ENSP00000407822:G678D;ENSP00000442791:G606D;ENSP00000341882:G678D	ENSP00000341882:G678D	G	+	2	0	CNTN6	1390695	0.938000	0.31826	0.999000	0.59377	0.985000	0.73830	2.160000	0.42348	2.379000	0.81126	0.655000	0.94253	GGC		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		5	383	0	0	0	1	0	5	383					A	1415695	G	A	1415695	3	1	92	1	0	0	0	0	1	0	0	0	3654	1203	42	2	2091	2	CNTN6	3	1415695	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		1415695	196606735	15	33874											
XIRP1	165904	broad.mit.edu	37	chr3	39227663	39227663	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccagctttccgaagacCgtcctggatggggttggaag	14	11	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:39227663C>T	ENST00000340369.3	-	2	3502	c.3274G>A	c.(3274-3276)Ggt>Agt	p.G1092S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1092					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)		TTCCGAAGACCGTCCTGGATG	0.602																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3274-3276)Ggt>Agt		xin actin-binding repeat containing 1							59	57	58					3																	39227663		2203	4299	6502	SO:0001583	missense	165904						actin binding	g.chr3:39227663C>T	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.3274G>A	3.37:g.39227663C>T	ENSP00000343140:p.Gly1092Ser					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1092S	p.G1092S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3502	-			1092					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3274G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	1.886	-0.456684	0.04540	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05580	3.42;3.74	4.72	0.745	0.18359	.	7.244150	0.01698	U	0.027049	T	0.06050	0.0157	L	0.47716	1.5	0.09310	N	1	B;B	0.24882	0.113;0.062	B;B	0.13407	0.004;0.009	T	0.37709	-0.9694	10	0.09084	T	0.74	.	3.123	0.06397	0.1423:0.557:0.1381:0.1626	.	1092;1092	Q702N8;Q702N8-2	XIRP1_HUMAN;.	S	1092	ENSP00000379550:G1092S;ENSP00000343140:G1092S	ENSP00000343140:G1092S	G	-	1	0	XIRP1	39202667	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.016000	0.13377	0.030000	0.15379	0.650000	0.86243	GGT		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		14	331	0	0	0	1	0	14	331					T	39227663	C	T	39227663	3	4	92	1	0	0	0	0	1	0	0	0	17483	652	23	1	2261	1	XIRP1	3	39227663	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	37811968	39227663	158794767	16	33875											
MYL3	4634	broad.mit.edu	37	chr3	46904790	46904790	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactcgacctccttagggcGctcaggctcagggggaggtg	15	11	2	0	rs377026344		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:46904790G>A	ENST00000395869.1	-	1	142	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYL3_ENST00000292327.4_Missense_Mutation_p.R31C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	31					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)		TCCTTAGGGCGCTCAGGCTCA	0.602																																					Melanoma(166;130 1949 2249 18977 46142)	ENST00000395869.1																			0				breast(1)|lung(2)	3						c.(91-93)Cgc>Tgc		myosin, light chain 3, alkali; ventricular, skeletal, slow			CYS/ARG	0,4406		0,0,2203	105	110	108		91	3.8	0.1	3		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYL3	NM_000258.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	31/196	46904790	1,13005	2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46904790G>A		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.91C>T	3.37:g.46904790G>A	ENSP00000379210:p.Arg31Cys					MYL3_ENST00000292327.4_Missense_Mutation_p.R31C	p.R31C			P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	1	142	-			31					B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.91C>T	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805000	0.16467	0.0	1.16E-4	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84660	-1.88;-1.88	4.68	3.78	0.43462	.	0.633837	0.14361	N	0.324444	T	0.76521	0.3999	L	0.36672	1.1	0.33259	D	0.559466	P	0.44044	0.825	B	0.33890	0.172	T	0.81493	-0.0908	10	0.56958	D	0.05	-1.2058	12.7183	0.57127	0.0:0.167:0.8329:0.0	.	31	P08590	MYL3_HUMAN	C	31	ENSP00000379210:R31C;ENSP00000292327:R31C	ENSP00000292327:R31C	R	-	1	0	MYL3	46879794	0.157000	0.22836	0.100000	0.21137	0.075000	0.17131	0.822000	0.27352	1.275000	0.44379	0.561000	0.74099	CGC		0.602	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		5	443	0	0	0	1	0	5	443					A	46904790	G	A	46904790	3	1	92	1	0	0	0	0	1	0	0	0	10089	1087	38	1	520	1	MYL3	3	46904790	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	7677127	46904790	151117640	17	33876											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	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		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		10	498						10	498	---	---	---	---	-	53529195	GAT	-	53529193	7	5	92	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-IB-AAUM-01A-11D-A377-08	6624403	53529193	144493237	18	33877											
OR5H1	26341	broad.mit.edu	37	chr3	97851842	97851842	+	Frame_Shift_Del	DEL	T	T	-													tctctgaatgcaagatacagTttttttcgtttgcaatcagt							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:97851842delT	ENST00000354565.2	+	1	301	c.301delT	c.(301-303)tttfs	p.F102fs	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	102						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						CAAGATACAGTTTTTTTCGTT	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(301-303)ttfs		olfactory receptor, family 5, subfamily H, member 1							196	190	192					3																	97851842		2202	4299	6501	SO:0001589	frameshift_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851842delT	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.301delT	3.37:g.97851842delT	ENSP00000346575:p.Phe102fs					RP11-343D2.11_ENST00000508964.1_RNA	p.F102fs	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	301	+			102						Frame_Shift_Del	DEL	ENST00000354565.2	37	c.301delT	CCDS33797.1																																																																																				0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		8	1260						8	1260	---	---	---	---	-	97851842	T	-	97851842	7	5	92	1	0	1	0	1	0	0	0	0	11201	1725	60	0	303	0	OR5H1	3	97851842	Frame_Shift_Del	DEL	T	TCGA-IB-AAUM-01A-11D-A377-08	44322649	97851842	100170588	19	33878											
CCDC80	151887	broad.mit.edu	37	chr3	112324383	112324383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactcatcttctgggcagcGcatccccagtgactgctgaa	9	13	3	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:112324383G>A	ENST00000206423.3	-	8	3687	c.2734C>T	c.(2734-2736)Cgc>Tgc	p.R912C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	912					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						TCTGGGCAGCGCATCCCCAGT	0.473																																						ENST00000206423.3																			0				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						c.(2734-2736)Cgc>Tgc		coiled-coil domain containing 80							122	101	108					3																	112324383		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112324383G>A	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.2734C>T	3.37:g.112324383G>A	ENSP00000206423:p.Arg912Cys					CCDC80_ENST00000439685.2_Missense_Mutation_p.R912C	p.R912C	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			8	3687	-			912					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.2734C>T	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003686	0.74932	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594;ENST00000479368	T;T;T	0.52754	0.65;0.65;0.81	5.83	4.87	0.63330	.	0.099290	0.64402	D	0.000001	T	0.56978	0.2022	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.973	T	0.61038	-0.7143	10	0.87932	D	0	-11.0485	16.8142	0.85729	0.0:0.0:0.8076:0.1924	.	923;912	Q76M96-2;Q76M96	.;CCD80_HUMAN	C	912;912;513;190	ENSP00000206423:R912C;ENSP00000411814:R912C;ENSP00000418188:R190C	ENSP00000206423:R912C	R	-	1	0	CCDC80	113807073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.439000	0.66556	2.753000	0.94483	0.585000	0.79938	CGC		0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		5	279	0	0	0	1	0	5	279					A	112324383	G	A	112324383	3	1	92	1	0	0	0	0	1	0	0	0	2861	1087	38	1	122	1	CCDC80	3	112324383	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	14472541	112324383	85698047	20	33879											
MCF2L2	23101	broad.mit.edu	37	chr3	182897467	182897467	+	Frame_Shift_Del	DEL	A	A	-													cgtgactgtcgtccgactggAaaaggcccgcgagctggaag							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr3:182897467delA	ENST00000328913.3	-	29	3416	c.3119delT	c.(3118-3120)ttcfs	p.F1040fs	MCF2L2_ENST00000473233.1_Frame_Shift_Del_p.F1040fs|MCF2L2_ENST00000468976.1_5'Flank	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1040							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)			GTCCGACTGGAAAAGGCCCGC	0.597																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(3118-3120)tcfs		MCF.2 cell line derived transforming sequence-like 2							74	82	79					3																	182897467		2203	4300	6503	SO:0001589	frameshift_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182897467delA	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.3119delT	3.37:g.182897467delA	ENSP00000328118:p.Phe1040fs					MCF2L2_ENST00000473233.1_Frame_Shift_Del_p.F1040fs	p.F1040fs	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		29	3416	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		1040					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Frame_Shift_Del	DEL	ENST00000328913.3	37	c.3119delT	CCDS3243.1																																																																																				0.597	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		7	641						7	641	---	---	---	---	-	182897467	A	-	182897467	7	5	92	1	0	1	0	1	0	0	0	0	9421	246	9	0	233	0	MCF2L2	3	182897467	Frame_Shift_Del	DEL	A	TCGA-IB-AAUM-01A-11D-A377-08	70573084	182897467	15124963	21	33880											
CXXC4	80319	broad.mit.edu	37	chr4	105412405	105412405	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcaacgacggctctggCgggcagccagctttccccag	12	14	1	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr4:105412405C>T	ENST00000426831.1	-	1	62	c.48G>A	c.(46-48)ccG>ccA	p.P16P	CXXC4_ENST00000394767.2_Silent_p.P185P|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	16					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ACGGCTCTGGCGGGCAGCCAG	0.627																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(553-555)ccG>ccA		CXXC finger protein 4							84	98	93					4																	105412405		2203	4300	6503	SO:0001819	synonymous_variant	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412405C>T		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.48G>A	4.37:g.105412405C>T						CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000426831.1_Silent_p.P16P	p.P185P	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1005	-			16						Silent	SNP	ENST00000426831.1	37	c.555G>A																																																																																					0.627	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		6	886	0	0	0	1	0	6	886					T	105412405	C	T	105412405	2	4	92	1	0	0	0	0	0	0	0	1	4109	755	27	1		1	CXXC4	4	105412405	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		105412405	85741871	22	33881											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			11	905						11	905	---	---	---	---	-	79372776	TGA	-	79372774	7	5	92	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-IB-AAUM-01A-11D-A377-08		79372774	101542486	23	33882											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	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.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	413	1	0	1.06961e-07	1	1.13493e-07	5	413					T	140553994	G	T	140553994	2	4	92	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	61181220	140553994	40361266	24	33883											
CCNG1	900	broad.mit.edu	37	chr5	162868135	162868135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgcttttatttggctGtaaaatcaatagaagaggaa	10	4	1	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr5:162868135G>A	ENST00000340828.2	+	3	540	c.316G>A	c.(316-318)Gta>Ata	p.V106I	AC112205.1_ENST00000599797.1_Intron|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000504553.1_5'Flank|CCNG1_ENST00000393929.1_Missense_Mutation_p.V106I	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	106					brain development (GO:0007420)|cell growth (GO:0016049)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to organonitrogen compound (GO:0010243)|syncytium formation (GO:0006949)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		TTATTTGGCTGTAAAATCAAT	0.393																																						ENST00000340828.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(316-318)Gta>Ata		cyclin G1							100	96	97					5																	162868135		2203	4300	6503	SO:0001583	missense	900				cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		g.chr5:162868135G>A	D78341	CCDS4360.1	5q32-q34	2010-11-15			ENSG00000113328	ENSG00000113328			1592	protein-coding gene	gene with protein product		601578		CCNG		8954786, 8806701	Standard	NM_004060		Approved		uc003lzb.3	P51959	OTTHUMG00000130380	ENST00000340828.2:c.316G>A	5.37:g.162868135G>A	ENSP00000344635:p.Val106Ile					CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000393929.1_Missense_Mutation_p.V106I|AC112205.1_ENST00000599797.1_Intron	p.V106I	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)	3	540	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	106					B2R7B2|B4DLW7|D3DQK7|Q15757|Q96L32	Missense_Mutation	SNP	ENST00000340828.2	37	c.316G>A	CCDS4360.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994314	0.74703	.	.	ENSG00000113328	ENST00000393929;ENST00000340828;ENST00000510097;ENST00000511490	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.23	5.23	0.72850	Cyclin, N-terminal (1);Cyclin-like (3);	0.059163	0.64402	D	0.000002	T	0.24236	0.0587	L	0.35487	1.065	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.01448	-1.1352	10	0.32370	T	0.25	-0.1181	18.8052	0.92034	0.0:0.0:1.0:0.0	.	106	P51959	CCNG1_HUMAN	I	106	ENSP00000377506:V106I;ENSP00000344635:V106I;ENSP00000423791:V106I;ENSP00000421132:V106I	ENSP00000344635:V106I	V	+	1	0	CCNG1	162800713	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.189000	0.72051	2.444000	0.82710	0.655000	0.94253	GTA		0.393	CCNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252750.3	NM_004060		6	391	0	0	0	1	0	6	391					A	162868135	G	A	162868135	3	1	92	1	0	0	0	0	1	0	0	0	2932	1377	48	2	322	2	CCNG1	5	162868135	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	22314141	162868135	18047125	25	33884											
RPP40	10799	broad.mit.edu	37	chr6	5004223	5004223	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gcggcgcctcccgaagccggCgcagcgtggccatgctctcc	14	18	1	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:5004223C>G	ENST00000380051.2	-	1	58	c.14G>C	c.(13-15)cGc>cCc	p.R5P	RPP40_ENST00000464646.1_5'Flank|RPP40_ENST00000319533.5_Missense_Mutation_p.R5P	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	5					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CCGAAGCCGGCGCAGCGTGGC	0.697											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(13-15)cGc>cCc		ribonuclease P/MRP 40kDa subunit							48	49	48					6																	5004223		2202	4300	6502	SO:0001583	missense	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:5004223C>G	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.14G>C	6.37:g.5004223C>G	ENSP00000369391:p.Arg5Pro		OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	623	RPP40_ENST00000319533.5_Missense_Mutation_p.R5P	p.R5P	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			1	58	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	5					Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	c.14G>C	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984604	0.53934	.	.	ENSG00000124787	ENST00000380051;ENST00000319533	T;T	0.51071	0.81;0.72	4.53	4.53	0.55603	.	0.509013	0.19657	N	0.109065	T	0.41026	0.1141	L	0.37630	1.12	0.80722	D	1	D;P	0.53885	0.963;0.938	P;B	0.52454	0.699;0.422	T	0.36016	-0.9765	10	0.52906	T	0.07	-11.2996	16.0024	0.80306	0.0:1.0:0.0:0.0	.	5;5	O75818-2;O75818	.;RPP40_HUMAN	P	5	ENSP00000369391:R5P;ENSP00000317998:R5P	ENSP00000317998:R5P	R	-	2	0	RPP40	4949222	0.846000	0.29590	0.089000	0.20774	0.009000	0.06853	1.435000	0.34969	2.338000	0.79540	0.557000	0.71058	CGC		0.697	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		16	213	0	0	0	1	0	16	213					G	5004223	C	G	5004223	3	3	92	1	0	0	0	0	1	0	0	0	13664	768	27	5	1109	5	RPP40	6	5004223	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		5004223	166110844	26	33885											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		9	246						9	246	---	---	---	---	-	30653496	TGC	-	30653494	7	5	92	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-IB-AAUM-01A-11D-A377-08	25649271	30653494	140461573	27	33886											
RNF5	6048	broad.mit.edu	37	chr6	32148080	32148080	+	Frame_Shift_Del	DEL	T	T	-													tgtttctcgccatcttcttcTttttttggctgctcagtatt							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:32148080delT	ENST00000375094.3	+	6	678	c.520delT	c.(520-522)tttfs	p.F175fs	AGPAT1_ENST00000395497.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000375104.2_5'Flank|AGPAT1_ENST00000490711.1_5'Flank|RNF5_ENST00000427134.2_Intron	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	175					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(7)|urinary_tract(2)	10						CATCTTCTTCTTTTTTTGGCT	0.537																																						ENST00000375094.3																			0				endometrium(1)|lung(7)|urinary_tract(2)	10						c.(520-522)ttfs		ring finger protein 5, E3 ubiquitin protein ligase							158	172	167					6																	32148080		1511	2709	4220	SO:0001589	frameshift_variant	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32148080delT	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"RING-type (C3HC4) zinc fingers"	10068	protein-coding gene	gene with protein product		602677	"ring finger protein 5"			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.520delT	6.37:g.32148080delT	ENSP00000364235:p.Phe175fs					RNF5_ENST00000427134.2_Intron	p.F175fs	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN			6	678	+			175					A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Frame_Shift_Del	DEL	ENST00000375094.3	37	c.520delT	CCDS4745.1																																																																																				0.537	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913		7	597						7	597	---	---	---	---	-	32148080	T	-	32148080	7	5	92	1	0	1	0	1	0	0	0	0	13547	1609	56	0	542	0	RNF5	6	32148080	Frame_Shift_Del	DEL	T	TCGA-IB-AAUM-01A-11D-A377-08	1494586	32148080	138966987	28	33887											
TULP1	7287	broad.mit.edu	37	chr6	35478775	35478777	+	In_Frame_Del	DEL	TCC	TCC	-													cgtcctcctcgtcctcctctTcctcctcctcctctgcaggt							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:35478775_35478777delTCC	ENST00000229771.6	-	5	439_441	c.360_362delGGA	c.(358-363)gaggaa>gaa	p.120_121EE>E	TULP1_ENST00000322263.4_In_Frame_Del_p.67_68EE>E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	120	Poly-Glu.		Missing (in RP14). {ECO:0000269|PubMed:9660588}.		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						gtcctcctcttcctcctcctcct	0.567																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(358-363)gaa>ga		tubby like protein 1				3,4259		0,3,2128						-2.5	0			60	15,8235		0,15,4110	no	coding	TULP1	NM_003322.3		0,18,6238	A1A1,A1R,RR		0.1818,0.0704,0.1439				18,12494				SO:0001651	inframe_deletion	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35478775_35478777delTCC	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.360_362delGGA	6.37:g.35478784_35478786delTCC	ENSP00000229771:p.Glu123del					TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del	p.EE122del	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			5	439_441	-			122		Missing (in RP14).	Poly-Glu.		O43536|Q5TGM5|Q8N571	In_Frame_Del	DEL	ENST00000229771.6	37	c.360_362delGGA	CCDS4807.1																																																																																				0.567	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			7	401						7	401	---	---	---	---	-	35478777	TCC	-	35478775	7	5	92	1	0	1	0	1	0	0	0	0	16827	1783	62	0	1310	0	TULP1	6	35478775	In_Frame_Del	DEL	TCC	TCGA-IB-AAUM-01A-11D-A377-08	3330695	35478775	135636292	29	33888											
SLC26A8	116369	broad.mit.edu	37	chr6	35912065	35912065	+	Frame_Shift_Del	DEL	T	T	-													tgatgaagcctggacttacaTttttttggcttcctagaaaa							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:35912065delT	ENST00000490799.1	-	20	2878	c.2525delA	c.(2524-2526)aatfs	p.N842fs	SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs|SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs	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						TGGACTTACATTTTTTTGGCT	0.398																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2524-2526)atfs		solute carrier family 26 (anion exchanger), member 8							71	73	72					6																	35912065		2203	4300	6503	SO:0001589	frameshift_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35912065delT	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.2525delA	6.37:g.35912065delT	ENSP00000417638:p.Asn842fs					SLC26A8_ENST00000394602.2_Frame_Shift_Del_p.N737fs|SLC26A8_ENST00000355574.2_Frame_Shift_Del_p.N842fs	p.N842fs	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			20	2878	-			842			Interaction with RACGAP1.			Frame_Shift_Del	DEL	ENST00000490799.1	37	c.2525delA	CCDS4813.1																																																																																				0.398	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			8	404						8	404	---	---	---	---	-	35912065	T	-	35912065	7	5	92	1	0	1	0	1	0	0	0	0	14573	1493	52	0	391	0	SLC26A8	6	35912065	Frame_Shift_Del	DEL	T	TCGA-IB-AAUM-01A-11D-A377-08	433290	35912065	135203002	30	33889											
PI16	221476	broad.mit.edu	37	chr6	36930968	36930968	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacagaggctccaccttgcGtaacaactgaggtcccttcc	8	15	0	2	rs199875004		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:36930968G>A	ENST00000373674.3	+	5	1178	c.850G>A	c.(850-852)Gta>Ata	p.V284I	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	284					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.V284I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCACCTTGCGTAACAACTGA	0.567																																						ENST00000373674.3																			2	Substitution - Missense(2)	p.V284I(2)	large_intestine(1)|kidney(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(850-852)Gta>Ata		peptidase inhibitor 16							86	71	76					6																	36930968		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36930968G>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.850G>A	6.37:g.36930968G>A	ENSP00000362778:p.Val284Ile					PI16_ENST00000491324.1_Intron	p.V284I	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN			5	1178	+			284					Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.850G>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235618	0.22626	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.06933	3.24	5.8	-7.55	0.01327	.	1.505140	0.04117	N	0.315674	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999999	B	0.30211	0.273	B	0.17722	0.019	T	0.41052	-0.9530	10	0.66056	D	0.02	.	1.6949	0.02859	0.1826:0.2985:0.3241:0.1948	.	284	Q6UXB8	PI16_HUMAN	I	284;136	ENSP00000362778:V284I	ENSP00000362778:V284I	V	+	1	0	PI16	37038946	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.569000	0.05902	-1.245000	0.02513	-0.127000	0.14921	GTA		0.567	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		23	286	0	0	0	1	0	23	286					A	36930968	G	A	36930968	3	1	92	1	0	0	0	0	1	0	0	0	11911	1145	40	1	868	1	PI16	6	36930968	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	1018903	36930968	134184099	31	33890											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					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.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(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)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		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.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			9	663						9	663	---	---	---	---	A	80751897	-	A	80751896	7	5	92	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-IB-AAUM-01A-11D-A377-08	43820928	80751896	90363171	32	33891											
RPS12	6206	broad.mit.edu	37	chr6	133138134	133138134	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaactaggagaatgggtaggCctttgtaaaattgacagaga	12	4	0	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:133138134C>G	ENST00000230050.3	+	5	480	c.270C>G	c.(268-270)ggC>ggG	p.G90G	SNORA33_ENST00000363664.1_RNA|SNORD100_ENST00000408573.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	90					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 small ribosomal subunit (GO:0022627)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		AATGGGTAGGCCTTTGTAAAA	0.358																																						ENST00000230050.3																			0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(268-270)ggC>ggG		ribosomal protein S12							69	67	67					6																	133138134		2203	4300	6503	SO:0001819	synonymous_variant	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133138134C>G	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"S ribosomal proteins"	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	ENST00000230050.3:c.270C>G	6.37:g.133138134C>G							p.G90G	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	5	480	+	Breast(56;0.214)		90					Q76M58	Silent	SNP	ENST00000230050.3	37	c.270C>G	CCDS5164.1																																																																																				0.358	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	NM_001016		5	259	0	0	0	1	0	5	259					G	133138134	C	G	133138134	2	3	92	1	0	0	0	0	0	0	0	1	13672	726	26	5		5	RPS12	6	133138134	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	52386238	133138134	37976933	33	33892											
UTRN	7402	broad.mit.edu	37	chr6	144769847	144769849	+	In_Frame_Del	DEL	CCT	CCT	-													aaaaatctaagcaggaactgCctcctcctcctcccccaaag							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr6:144769847_144769849delCCT	ENST00000367545.3	+	16	2014_2016	c.2014_2016delCCT	c.(2014-2016)cctdel	p.P677del		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	677	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.P672H(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)		GCAGGAACTGCCTCCTCCTCCTC	0.409																																						ENST00000367545.3																			1	Substitution - Missense(1)	p.P672H(1)	lung(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						c.(2014-2016)del		utrophin																																				SO:0001651	inframe_deletion	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144769847_144769849delCCT	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.2014_2016delCCT	6.37:g.144769856_144769858delCCT	ENSP00000356515:p.Pro677del						p.P677del	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	16	2014_2016	+		Ovarian(120;0.218)	677			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	In_Frame_Del	DEL	ENST00000367545.3	37	c.2014_2016delCCT	CCDS34547.1																																																																																				0.409	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			8	375						8	375	---	---	---	---	-	144769849	CCT	-	144769847	7	5	92	1	0	1	0	1	0	0	0	0	17157	739	26	0	2076	0	UTRN	6	144769847	In_Frame_Del	DEL	CCT	TCGA-IB-AAUM-01A-11D-A377-08	11631713	144769847	26345220	34	33893											
THSD7A	221981	broad.mit.edu	37	chr7	11871469	11871470	+	In_Frame_Ins	INS	-	-	GCAGCG													gcgtagcagcagcagcaggaINSgcagcggcagcggcagcggc					rs559389570|rs536177295	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:11871469_11871470insGCAGCG	ENST00000423059.4	-	1	354_355	c.103_104insCGCTGC	c.(103-105)ctc>cCGCTGCtc	p.34_35insPL		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	34					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)		cagcagcaggagcagcggcagc	0.772										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(103-105)cct>CGCTGCcct		thrombospondin, type I, domain containing 7A																																				SO:0001652	inframe_insertion	221981					integral to membrane		g.chr7:11871469_11871470insGCAGCG		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.98_103dupCGCTGC	7.37:g.11871470_11871475dupGCAGCG	ENSP00000406482:p.Pro33_Leu34dup	HNSCC(18;0.044)					p.34_35insRC	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	354_355	-			34						In_Frame_Ins	INS	ENST00000423059.4	37	c.103_104insCGCTGC	CCDS47543.1																																																																																				0.772	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		7	78						7	78	---	---	---	---	GCAGCG	11871470	-	GCAGCG	11871469	7	5	92	1	0	1	1	0	0	0	0	0	15931	304	11	0	4977	0	THSD7A	7	11871469	In_Frame_Ins	INS	-	TCGA-IB-AAUM-01A-11D-A377-08		11871469	147267194	35	33894											
ZNF479	90827	broad.mit.edu	37	chr7	57187725	57187725	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcttcacatGtgtagggtctctctccagta	7	12	4	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:57187725G>T	ENST00000331162.4	-	5	1667	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			TTCTTCACATGTGTAGGGTCT	0.428																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1396-1398)aCa>aAa		zinc finger protein 479							61	62	61					7																	57187725		2091	4234	6325	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187725G>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1397C>A	7.37:g.57187725G>T	ENSP00000333776:p.Thr466Lys						p.T466K	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1667	-			466						Missense_Mutation	SNP	ENST00000331162.4	37	c.1397C>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.806322	0.00074	.	.	ENSG00000185177	ENST00000331162	T	0.20738	2.05	0.955	-1.78	0.07957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04907	0.0132	N	0.01267	-0.92	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.35699	-0.9778	9	0.02654	T	1	.	5.6195	0.17450	0.0:0.0:0.5844:0.4156	.	466	Q96JC4	ZN479_HUMAN	K	466	ENSP00000333776:T466K	ENSP00000333776:T466K	T	-	2	0	ZNF479	57191667	0.000000	0.05858	0.065000	0.19835	0.062000	0.15995	-1.024000	0.03603	-0.948000	0.03668	-0.940000	0.02684	ACA		0.428	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		5	551	1	0	0.0381472	1	0.0387041	5	551					T	57187725	G	T	57187725	3	4	92	1	0	0	0	0	1	0	0	0	17986	1377	48	3	181	3	ZNF479	7	57187725	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	45316256	57187725	101950938	36	33895											
TYW1	55253	broad.mit.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	10	1	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		6	607	0	0	0	1	0	6	607					C	66479413	T	C	66479413	2	2	92	1	0	0	0	0	0	0	0	1	16872	1567	55	4		4	TYW1	7	66479413	Silent	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08	9291688	66479413	92659250	37	33896											
AZGP1	563	broad.mit.edu	37	chr7	99565782	99565782	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagtgagtaccttgCcggtccaggatatttttgct	12	8	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:99565782C>T	ENST00000292401.4	-	3	745	c.609G>A	c.(607-609)cgG>cgA	p.R203R	AZGP1_ENST00000411734.1_Silent_p.R200R|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	203					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAGTACCTTGCCGGTCCAGGA	0.532																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(598-600)cgG>cgA		alpha-2-glycoprotein 1, zinc-binding							76	75	75					7																	99565782		2203	4300	6503	SO:0001819	synonymous_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565782C>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"Immunoglobulin superfamily / C1-set domain containing"	910	protein-coding gene	gene with protein product		194460	"alpha-2-glycoprotein 1, zinc"			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.609G>A	7.37:g.99565782C>T						AZGP1_ENST00000292401.4_Silent_p.R203R	p.R200R			P25311	ZA2G_HUMAN			3	605	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		203					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	ENST00000292401.4	37	c.600G>A	CCDS5680.1																																																																																				0.532	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		5	279	0	0	0	1	0	5	279					T	99565782	C	T	99565782	2	4	92	1	0	0	0	0	0	0	0	1	1240	726	26	2		2	AZGP1	7	99565782	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	33086369	99565782	59572881	38	33897											
PLXNA4	91584	broad.mit.edu	37	chr7	131844259	131844259	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatctgcagctttgggccGgtgggagcaaggcacattct	13	10	2	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:131844259G>A	ENST00000359827.3	-	25	5595	c.4633C>T	c.(4633-4635)Cgg>Tgg	p.R1545W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W			Q9HCM2	PLXA4_HUMAN	plexin A4	1545					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTTGGGCCGGTGGGAGCAA	0.557																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4633-4635)Cgg>Tgg		plexin A4							198	213	208					7																	131844259		2198	4300	6498	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131844259G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4633C>T	7.37:g.131844259G>A	ENSP00000352882:p.Arg1545Trp					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W	p.R1545W			Q9HCM2	PLXA4_HUMAN			25	5595	-			1545					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4633C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067782	0.76301	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15017	2.46;2.46	5.22	0.482	0.16815	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23476	-1.0187	10	0.39692	T	0.17	.	15.9453	0.79789	0.0:0.0:0.5428:0.4572	.	1545	Q9HCM2	PLXA4_HUMAN	W	1545	ENSP00000323194:R1545W;ENSP00000352882:R1545W	ENSP00000323194:R1545W	R	-	1	2	PLXNA4	131494799	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.019000	0.41001	0.155000	0.19261	0.655000	0.94253	CGG		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	863	0	0	0	1	0	7	863					A	131844259	G	A	131844259	3	1	92	1	0	0	0	0	1	0	0	0	12164	1115	39	1	1083	1	PLXNA4	7	131844259	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	32278477	131844259	27294404	39	33898											
KEL	3792	broad.mit.edu	37	chr7	142641797	142641797	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaggcgagtgatgaggGcatcccggatcgcagtgaat	15	8	1	4			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr7:142641797G>A	ENST00000355265.2	-	12	1820	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	KEL_ENST00000479768.2_5'Flank	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	449					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)					AGTGATGAGGGCATCCCGGAT	0.617																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1345-1347)gCc>gTc		Kell blood group, metallo-endopeptidase							80	69	73					7																	142641797		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142641797G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1346C>T	7.37:g.142641797G>A	ENSP00000347409:p.Ala449Val						p.A449V	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			12	1820	-	Melanoma(164;0.059)		449					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1346C>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648408	0.29336	.	.	ENSG00000197993	ENST00000355265	T	0.78924	-1.22	4.87	3.99	0.46301	Peptidase M13 (1);	0.518330	0.17628	N	0.167488	T	0.75162	0.3812	M	0.76328	2.33	0.29659	N	0.843357	P	0.38617	0.64	B	0.38616	0.277	T	0.71137	-0.4680	10	0.34782	T	0.22	-7.2386	8.9486	0.35773	0.1008:0.0:0.8992:0.0	.	449	P23276	KELL_HUMAN	V	449	ENSP00000347409:A449V	ENSP00000347409:A449V	A	-	2	0	KEL	142351919	0.721000	0.28007	0.700000	0.30305	0.042000	0.13812	3.694000	0.54742	1.297000	0.44761	-0.373000	0.07131	GCC		0.617	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		4	195	0	0	0	1	0	4	195					A	142641797	G	A	142641797	3	1	92	1	0	0	0	0	1	0	0	0	8172	1203	42	2	884	2	KEL	7	142641797	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	10797538	142641797	16496866	40	33899											
RB1CC1	9821	broad.mit.edu	37	chr8	53555118	53555118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttcctcaagcaaaCgagctcgatcttcagaaagt	6	10	4	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:53555118C>T	ENST00000025008.5	-	18	4653	c.4130G>A	c.(4129-4131)cGt>cAt	p.R1377H	RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1377					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCAAGCAAACGAGCTCGATC	0.358																																					GBM(180;1701 2102 13475 42023 52570)	ENST00000025008.5																			0				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60						c.(4129-4131)cGt>cAt		RB1-inducible coiled-coil 1							80	76	77					8																	53555118		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53555118C>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4130G>A	8.37:g.53555118C>T	ENSP00000025008:p.Arg1377His					RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R1377H|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R1377H	p.R1377H	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN			18	4653	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1377					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.4130G>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831119	0.91036	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15487	2.42;2.42;2.42	5.61	5.61	0.85477	.	0.053357	0.85682	D	0.000000	T	0.30823	0.0777	L	0.32530	0.975	0.44104	D	0.996878	D;D	0.76494	0.999;0.998	P;P	0.61592	0.891;0.781	T	0.01460	-1.1349	10	0.72032	D	0.01	-13.615	18.6201	0.91318	0.0:1.0:0.0:0.0	.	1377;1377	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	H	1377	ENSP00000025008:R1377H;ENSP00000396067:R1377H;ENSP00000445960:R1377H	ENSP00000025008:R1377H	R	-	2	0	RB1CC1	53717671	0.998000	0.40836	0.994000	0.49952	0.998000	0.95712	3.761000	0.55242	2.632000	0.89209	0.655000	0.94253	CGT		0.358	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		16	343	0	0	0	1	0	16	343					T	53555118	C	T	53555118	3	4	92	1	0	0	0	0	1	0	0	0	13149	536	19	1	682	1	RB1CC1	8	53555118	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		53555118	92808904	41	33900											
KCNB2	9312	broad.mit.edu	37	chr8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacaggctgcccaggacgCgcctggggaagcttcgagac	16	12	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCCCAGGACGCGCCTGGGGAA	0.542																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(178-180)Cgc>Tgc		potassium voltage-gated channel, Shab-related subfamily, member 2							66	68	67					8																	73480147		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480147C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.178C>T	8.37:g.73480147C>T	ENSP00000430846:p.Arg60Cys						p.R60C	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	766	+	Breast(64;0.137)		60					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.178C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048690	0.75846	.	.	ENSG00000182674	ENST00000523207	T	0.78481	-1.18	5.71	4.84	0.62591	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.90703	0.7083	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91904	0.5534	9	0.87932	D	0	.	9.6813	0.40072	0.1398:0.7897:0.0:0.0705	.	60	Q92953	KCNB2_HUMAN	C	60	ENSP00000430846:R60C	ENSP00000430846:R60C	R	+	1	0	KCNB2	73642701	0.996000	0.38824	0.635000	0.29338	0.985000	0.73830	3.471000	0.53107	1.432000	0.47375	0.655000	0.94253	CGC		0.542	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		21	371	0	0	0	1	0	21	371					T	73480147	C	T	73480147	3	4	92	1	0	0	0	0	1	0	0	0	8043	768	27	1	180	1	KCNB2	8	73480147	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	19925029	73480147	72883875	42	33901											
ZFAT	57623	broad.mit.edu	37	chr8	135614834	135614834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcctgtgggtcatgCgcgtctcggatgtgcttgat	13	9	3	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					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)			GTGGGTCATGCGCGTCTCGGA	0.552																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1090-1092)gcG>gcA		zinc finger and AT hook domain containing							74	75	74					8																	135614834		2114	4240	6354	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614834C>T	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.1128G>A	8.37:g.135614834C>T						ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A	p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1391	-	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)		376					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1092G>A	CCDS47924.1																																																																																				0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	381	0	0	0	1	0	5	381					T	135614834	C	T	135614834	2	4	92	1	0	0	0	0	0	0	0	1	17685	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	62134687	135614834	10749188	43	33902											
MPDZ	8777	broad.mit.edu	37	chr9	13140072	13140072	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatcactacccatttcgGcaaaggctgaaggagggggt	14	8	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:13140072G>A	ENST00000319217.7	-	28	4164	c.3917C>T	c.(3916-3918)gCc>gTc	p.A1306V	MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1306					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)		ACCCATTTCGGCAAAGGCTGA	0.493																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3916-3918)gCc>gTc		multiple PDZ domain protein							154	161	158					9																	13140072		1964	4154	6118	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13140072G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3917C>T	9.37:g.13140072G>A	ENSP00000320006:p.Ala1306Val					MPDZ_ENST00000381015.4_Missense_Mutation_p.A1306V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1306V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1306V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1273V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1320V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A165V|MPDZ_ENST00000540202.1_5'UTR	p.A1306V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	28	4164	-			1306					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3917C>T		.	.	.	.	.	.	.	.	.	.	G	10.05	1.244722	0.22796	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.45276	2.88;2.83;2.83;2.71;2.73;2.74;2.78;2.88;2.88;0.9	5.9	3.99	0.46301	.	0.701509	0.12341	N	0.477536	T	0.33614	0.0869	L	0.29908	0.895	0.25514	N	0.987437	B;B;B;B;B	0.28055	0.126;0.019;0.199;0.126;0.199	B;B;B;B;B	0.33620	0.055;0.028;0.167;0.08;0.117	T	0.27806	-1.0063	10	0.28530	T	0.3	.	10.1093	0.42552	0.0648:0.0:0.6902:0.245	.	1273;165;1273;1186;1306	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	V	1306;1306;1306;242;165;1273;1273;1306;1186;1320;128	ENSP00000320006:A1306V;ENSP00000439807:A1306V;ENSP00000370410:A1306V;ENSP00000444230:A242V;ENSP00000444717:A165V;ENSP00000444151:A1273V;ENSP00000415208:A1273V;ENSP00000370403:A1306V;ENSP00000446358:A1320V;ENSP00000389705:A128V	ENSP00000320006:A1306V	A	-	2	0	MPDZ	13130072	0.994000	0.37717	0.239000	0.24122	0.708000	0.40852	1.599000	0.36751	0.765000	0.33221	0.552000	0.68991	GCC		0.493	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		6	598	0	0	0	1	0	6	598					A	13140072	G	A	13140072	3	1	92	1	0	0	0	0	1	0	0	0	9763	1203	42	2	2284	2	MPDZ	9	13140072	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		13140072	128073359	44	33903											
DOLK	22845	broad.mit.edu	37	chr9	131708515	131708515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggctacatagagcagtggCcggtcaaagatgatacctgg	14	9	1	3	rs371490482		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr9:131708515C>T	ENST00000372586.3	-	1	1383	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	356					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						AGAGCAGTGGCCGGTCAAAGA	0.547																																						ENST00000372586.3																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(1066-1068)cgG>cgA		dolichol kinase		C		1,4405	2.1+/-5.4	0,1,2202	107	121	116		1068	-0.6	0.9	9		116	0,8600		0,0,4300	no	coding-synonymous	DOLK	NM_014908.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		356/539	131708515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131708515C>T	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.1068G>A	9.37:g.131708515C>T						RP11-101E3.5_ENST00000482796.1_Intron	p.R356R	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN			1	1383	-			356					Q5SRE6	Silent	SNP	ENST00000372586.3	37	c.1068G>A	CCDS6915.1																																																																																				0.547	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1	NM_014908		7	714	0	0	0	1	0	7	714					T	131708515	C	T	131708515	2	4	92	1	0	0	0	0	0	0	0	1	4719	726	26	2		2	DOLK	9	131708515	Silent	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	118568443	131708515	9504916	45	33904											
LDB1	8861	broad.mit.edu	37	chr10	103868035	103868035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcctctcgtcctcgtcccCgaactccccgcccatcaggg	9	20	2	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr10:103868035C>T	ENST00000425280.1	-	11	1393	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Missense_Mutation_p.G315R	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351	LIM-binding domain (LID). {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TCCTCGTCCCCGAACTCCCCG	0.632																																						ENST00000361198.5																			0				breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21						c.(943-945)Ggg>Agg		LIM domain binding 1							103	77	86					10																	103868035		2203	4300	6503	SO:0001583	missense	8861				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	g.chr10:103868035C>T	AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1051G>A	10.37:g.103868035C>T	ENSP00000392466:p.Gly351Arg					LDB1_ENST00000425280.1_Missense_Mutation_p.G351R	p.G315R	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)	11	1566	-		Colorectal(252;0.122)	351					B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	c.943G>A	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210721	0.79240	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.27890	1.64;1.64	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.85777	2.775	0.80722	D	1	D	0.54772	0.968	B	0.37144	0.242	T	0.58120	-0.7692	10	0.87932	D	0	-3.4047	19.3379	0.94326	0.0:1.0:0.0:0.0	.	351	Q86U70	LDB1_HUMAN	R	315;351	ENSP00000354616:G315R;ENSP00000392466:G351R	ENSP00000354616:G315R	G	-	1	0	LDB1	103858025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.742000	0.94016	0.455000	0.32223	GGG		0.632	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407		9	215	0	0	0	1	0	9	215					T	103868035	C	T	103868035	3	4	92	1	0	0	0	0	1	0	0	0	8726	652	23	1	188	1	LDB1	10	103868035	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		103868035	31666712	46	33905											
DSCAML1	57453	broad.mit.edu	37	chr11	117307881	117307881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactgggctgtttcattgccGcagcccgcactgttgcaagc	11	13	1	0	rs376657003		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:117307881G>A	ENST00000321322.6	-	26	4858	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	DSCAML1_ENST00000527706.1_Silent_p.C1349C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1559					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.C1619C(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)		TTTCATTGCCGCAGCCCGCAC	0.632																																						ENST00000321322.6																			1	Substitution - coding silent(1)	p.C1619C(1)	large_intestine(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						c.(4855-4857)tgC>tgT		Down syndrome cell adhesion molecule like 1		G		0,4402		0,0,2201	88	82	84		4857	-1.2	1	11		84	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1619/2114	117307881	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117307881G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4857C>T	11.37:g.117307881G>A						DSCAML1_ENST00000527706.1_Silent_p.C1349C	p.C1619C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	26	4858	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1559					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.4857C>T	CCDS8384.1																																																																																				0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	399	0	0	0	1	0	6	399					A	117307881	G	A	117307881	2	1	92	1	0	0	0	0	0	0	0	1	4785	1079	38	1		1	DSCAML1	11	117307881	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		117307881	17698635	47	33906											
GRIK4	2900	broad.mit.edu	37	chr11	120769305	120769305	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctctatgcctccaacatctCggacactctcttcaacacca	3	18	4	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:120769305C>T	ENST00000527524.2	+	12	1516	c.1229C>T	c.(1228-1230)tCg>tTg	p.S410L	GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	410					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)		TCCAACATCTCGGACACTCTC	0.612																																						ENST00000527524.2																			0				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						c.(1228-1230)tCg>tTg		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						214	141	166					11																	120769305		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120769305C>T	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.1229C>T	11.37:g.120769305C>T	ENSP00000435648:p.Ser410Leu					GRIK4_ENST00000438375.2_Missense_Mutation_p.S410L	p.S410L			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	12	1516	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	410					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1229C>T	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523560	0.44866	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13657	2.57;2.57	5.03	5.03	0.67393	.	0.297347	0.40385	N	0.001116	T	0.17195	0.0413	M	0.62723	1.935	0.51767	D	0.99993	B;P	0.39376	0.239;0.67	B;B	0.31869	0.078;0.137	T	0.04360	-1.0957	10	0.72032	D	0.01	.	18.3623	0.90379	0.0:1.0:0.0:0.0	.	410;410	A6H8K8;Q16099	.;GRIK4_HUMAN	L	410	ENSP00000435648:S410L;ENSP00000404063:S410L	ENSP00000404063:S410L	S	+	2	0	GRIK4	120274515	1.000000	0.71417	0.907000	0.35723	0.018000	0.09664	7.480000	0.81109	2.323000	0.78572	0.462000	0.41574	TCG		0.612	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		7	139	0	0	0	1	0	7	139					T	120769305	C	T	120769305	3	4	92	1	0	0	0	0	1	0	0	0	6806	893	31	1	1267	1	GRIK4	11	120769305	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	3461424	120769305	14237211	48	33907											
CDON	50937	broad.mit.edu	37	chr11	125871630	125871630	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttacctccactgtgcctagaGgaatctgtaagtaccactcc	7	13	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr11:125871630G>C	ENST00000392693.3	-	11	2269	c.2142C>G	c.(2140-2142)tcC>tcG	p.S714S	CDON_ENST00000531738.1_Silent_p.S91S|CDON_ENST00000263577.7_Silent_p.S714S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	714					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTGCCTAGAGGAATCTGTAA	0.433																																						ENST00000392693.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2140-2142)tcC>tcG		cell adhesion associated, oncogene regulated							93	91	92					11																	125871630		2201	4299	6500	SO:0001819	synonymous_variant	50937				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	g.chr11:125871630G>C	AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2142C>G	11.37:g.125871630G>C						CDON_ENST00000263577.7_Silent_p.S714S|CDON_ENST00000531738.1_Silent_p.S91S	p.S714S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)	11	2269	-	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	714					O14631	Silent	SNP	ENST00000392693.3	37	c.2142C>G	CCDS58192.1																																																																																				0.433	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952		17	342	0	0	0	1	0	17	342					C	125871630	G	C	125871630	2	2	92	1	0	0	0	0	0	0	0	1	3179	987	35	5		5	CDON	11	125871630	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	5102325	125871630	9134886	49	33908											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		19	308	0	0	0	1	0	19	308					T	25398284	C	T	25398284	3	4	92	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		25398284	108453611	50	33909											
NUP107	57122	broad.mit.edu	37	chr12	69082833	69082833	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcagaaaagagttttaCgtatcctttgcgatttaagc	9	7	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr12:69082833C>T	ENST00000229179.4	+	2	432	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F	RP11-637A17.2_ENST00000500695.2_lincRNA|NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	34					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)			AAGAGTTTTACGTATCCTTTG	0.378																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.e2+1		nucleoporin 107kDa							124	116	119					12																	69082833		2203	4300	6503	SO:0001630	splice_region_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69082833C>T	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.100+1C>T	12.37:g.69082833C>T						NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_5'UTR	p.L34_splice	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		2	432	+	Breast(13;6.25e-06)		34					B4DZ67|Q6PJE1	Splice_Site	SNP	ENST00000229179.4	37	c.100_splice	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583042	0.28268	.	.	ENSG00000111581	ENST00000229179	.	.	.	5.45	1.62	0.23740	.	0.364773	0.29515	N	0.011933	T	0.28764	0.0713	N	0.19112	0.55	0.80722	D	1	B	0.33288	0.406	B	0.26614	0.071	T	0.03875	-1.0996	8	.	.	.	-14.2674	7.3035	0.26434	0.4774:0.4454:0.0772:0.0	.	34	P57740	NU107_HUMAN	F	34	.	.	L	+	1	0	NUP107	67369100	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	0.680000	0.25306	0.084000	0.17077	-0.541000	0.04245	CTT		0.378	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	Missense_Mutation	9	170	0	0	0	1	0	9	170					T	69082833	C	T	69082833	5	4	92	1	0	0	0	0	0	0	1	0	10795	550	19	1	106	1	NUP107	12	69082833	Splice_Site	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	43684549	69082833	64769062	51	33910											
LTBP2	4053	broad.mit.edu	37	chr14	74968164	74968164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgcaggccatgtgggccGcatccagctggaagccctca	12	15	1	0	rs138556118		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr14:74968164G>A	ENST00000261978.4	-	35	5686	c.5300C>T	c.(5299-5301)gCg>gTg	p.A1767V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1767	EGF-like 19; 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)		CATGTGGGCCGCATCCAGCTG	0.617											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5299-5301)gCg>gTg		latent transforming growth factor beta binding protein 2		G	VAL/ALA	0,4406		0,0,2203	103	102	102		5300	1.1	0	14	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	LTBP2	NM_000428.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1767/1822	74968164	2,13004	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968164G>A		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.5300C>T	14.37:g.74968164G>A	ENSP00000261978:p.Ala1767Val		OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	p.A1767V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5686	-			1767			EGF-like 19; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5300C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	5.097	0.203535	0.09704	0.0	2.33E-4	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.87650	-2.28;-2.28	5.25	1.09	0.20402	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.969671	0.08413	N	0.949507	T	0.76870	0.4048	L	0.38175	1.15	0.09310	N	1	P	0.34522	0.455	B	0.18263	0.021	T	0.57877	-0.7735	10	0.24483	T	0.36	.	8.7657	0.34702	0.5654:0.0:0.4346:0.0	.	1767	Q14767	LTBP2_HUMAN	V	1767;1723	ENSP00000261978:A1767V;ENSP00000451477:A1723V	ENSP00000261978:A1767V	A	-	2	0	LTBP2	74037917	0.004000	0.15560	0.001000	0.08648	0.992000	0.81027	1.429000	0.34903	0.017000	0.15025	0.650000	0.86243	GCG		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		7	570	0	0	0	1	0	7	570					A	74968164	G	A	74968164	3	1	92	1	0	0	0	0	1	0	0	0	9112	1087	38	1	173	1	LTBP2	14	74968164	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		74968164	32381376	52	33911											
CATSPERB	79820	broad.mit.edu	37	chr14	92126248	92126249	+	Frame_Shift_Del	DEL	AA	AA	-													gctgatgtataaaaactatgAaaagtcttctttatgatatc							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr14:92126248_92126249delAA	ENST00000256343.3	-	15	1520_1521	c.1364_1365delTT	c.(1363-1365)tttfs	p.F455fs		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	455					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)				AAAAACTATGAAAAGTCTTCTT	0.337																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1363-1365)tfs		catsper channel auxiliary subunit beta																																				SO:0001589	frameshift_variant	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92126248_92126249delAA	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.1364_1365delTT	14.37:g.92126250_92126251delAA	ENSP00000256343:p.Phe455fs						p.F455fs	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			15	1520_1521	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	455					A0AV51	Frame_Shift_Del	DEL	ENST00000256343.3	37	c.1364_1365delTT	CCDS32142.1																																																																																				0.337	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		8	578						8	578	---	---	---	---	-	92126249	AA	-	92126248	7	5	92	1	0	1	0	1	0	0	0	0	2698	243	9	0	2037	0	CATSPERB	14	92126248	Frame_Shift_Del	DEL	AA	TCGA-IB-AAUM-01A-11D-A377-08	17158084	92126248	15223292	53	33912											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	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		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		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					CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	114						7	114	---	---	---	---	-	93397926	GAG	-	93397924	7	5	92	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-IB-AAUM-01A-11D-A377-08	1271676	93397924	13951616	54	33913											
HERC2	8924	broad.mit.edu	37	chr15	28518096	28518096	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	atggccagggccaagtgctgGtcctgcagggggatgcttcc	16	11	0	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:28518096G>C	ENST00000261609.7	-	8	963	c.855C>G	c.(853-855)gaC>gaG	p.D285E		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)		CCAAGTGCTGGTCCTGCAGGG	0.612																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(853-855)gaC>gaG		HECT and RLD domain containing E3 ubiquitin protein ligase 2							52	50	51					15																	28518096		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518096G>C	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.855C>G	15.37:g.28518096G>C	ENSP00000261609:p.Asp285Glu						p.D285E	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	963	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	285						Missense_Mutation	SNP	ENST00000261609.7	37	c.855C>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875355	0.91664	.	.	ENSG00000128731	ENST00000261609	T	0.56611	0.45	5.23	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.70491	0.3230	M	0.75615	2.305	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.73902	-0.3836	10	0.54805	T	0.06	.	14.4241	0.67202	0.0718:0.0:0.9282:0.0	.	285	O95714	HERC2_HUMAN	E	285	ENSP00000261609:D285E	ENSP00000261609:D285E	D	-	3	2	HERC2	26191691	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.274000	0.51631	1.424000	0.47217	0.644000	0.83932	GAC		0.612	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	221	0	0	0	1	0	5	221					C	28518096	G	C	28518096	3	2	92	1	0	0	0	0	1	0	0	0	7088	1252	44	5	13993	5	HERC2	15	28518096	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		28518096	74013296	55	33914											
MGA	23269	broad.mit.edu	37	chr15	42003383	42003385	+	In_Frame_Del	DEL	CAG	CAG	-													agattagtttgcggcaggcaCagcagcagcagcaacagcaa							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:42003383_42003385delCAG	ENST00000570161.1	+	7	2920_2922	c.2920_2922delCAG	c.(2920-2922)cagdel	p.Q981del	MGA_ENST00000545763.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000219905.7_In_Frame_Del_p.Q981del			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCGGCAGGCACAGCAGCAGCAGC	0.458																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2920-2922)del		MGA, MAX dimerization protein																																				SO:0001651	inframe_deletion	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003383_42003385delCAG	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.2920_2922delCAG	15.37:g.42003392_42003394delCAG	ENSP00000457035:p.Gln981del					MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del	p.Q981del	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	3101_3103	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	981			Gln-rich.		Q0VAX6|Q75ME7|Q86UM5	In_Frame_Del	DEL	ENST00000570161.1	37	c.2920_2922delCAG	CCDS55959.1																																																																																				0.458	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		7	369						7	369	---	---	---	---	-	42003385	CAG	-	42003383	7	5	92	1	0	1	0	1	0	0	0	0	9581	479	17	0	2946	0	MGA	15	42003383	In_Frame_Del	DEL	CAG	TCGA-IB-AAUM-01A-11D-A377-08	13485287	42003383	60528009	56	33915											
AQP9	366	broad.mit.edu	37	chr15	58471472	58471472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactgaacagtggctgtgCcatgaacccagctcgagacc	13	12	0	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:58471472C>T	ENST00000219919.4	+	5	1011	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.A214V|AQP9_ENST00000558772.1_Missense_Mutation_p.A149V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	214					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AGTGGCTGTGCCATGAACCCA	0.557																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(640-642)gCc>gTc		aquaporin 9							70	60	64					15																	58471472		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58471472C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.641C>T	15.37:g.58471472C>T	ENSP00000219919:p.Ala214Val					AQP9_ENST00000536493.1_Missense_Mutation_p.A214V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.A149V	p.A214V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	5	1011	+			214					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.641C>T	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	36	5.974864	0.97162	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.87571	-2.27;-2.27	6.17	6.17	0.99709	Aquaporin-like (2);	0.000000	0.64402	D	0.000001	D	0.96920	0.8994	H	0.99182	4.46	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.97553	1.0093	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	214	O43315	AQP9_HUMAN	V	214	ENSP00000219919:A214V;ENSP00000441390:A214V	ENSP00000219919:A214V	A	+	2	0	AQP9	56258764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		0.557	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		4	206	0	0	0	1	0	4	206					T	58471472	C	T	58471472	3	4	92	1	0	0	0	0	1	0	0	0	833	739	26	2	659	2	AQP9	15	58471472	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	16468089	58471472	44059920	57	33916											
C15orf27	123591	broad.mit.edu	37	chr15	76496126	76496126	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtatggtcaccacggccGcaatagacattcaccagccc	9	14	2	1	rs556150508		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:76496126G>A	ENST00000388942.3	+	11	1342	c.1066G>A	c.(1066-1068)Gca>Aca	p.A356T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	356					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						CACCACGGCCGCAATAGACAT	0.602																																						ENST00000388942.3																			0				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						c.(1066-1068)Gca>Aca		chromosome 15 open reading frame 27							216	187	197					15																	76496126		2197	4294	6491	SO:0001583	missense	123591					integral to membrane		g.chr15:76496126G>A	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.1066G>A	15.37:g.76496126G>A	ENSP00000373594:p.Ala356Thr						p.A356T	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN			11	1342	+			356					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.1066G>A	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526304	0.64860	.	.	ENSG00000169758	ENST00000388942	T	0.50277	0.75	5.0	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	M	0.74258	2.255	0.54753	D	0.999989	D;P	0.55800	0.973;0.874	B;B	0.43950	0.437;0.142	T	0.54241	-0.8323	10	0.51188	T	0.08	-7.8183	10.848	0.46754	0.0878:0.0:0.9122:0.0	.	320;356	Q2M3C6-2;Q2M3C6	.;CO027_HUMAN	T	356	ENSP00000373594:A356T	ENSP00000373594:A356T	A	+	1	0	C15orf27	74283181	1.000000	0.71417	0.869000	0.34112	0.360000	0.29518	6.069000	0.71209	1.096000	0.41439	0.455000	0.32223	GCA		0.602	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335		6	568	0	0	0	1	0	6	568					A	76496126	G	A	76496126	3	1	92	1	0	0	0	0	1	0	0	0	1793	1087	38	1	1104	1	C15orf27	15	76496126	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	18024654	76496126	26035266	58	33917											
KLHL25	64410	broad.mit.edu	37	chr15	86311613	86311613	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgccaaggctgggggcactCggccttgatcgtccacctgt	13	15	0	1	rs369625056		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:86311613C>T	ENST00000337975.5	-	2	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	477					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						TGGGGGCACTCGGCCTTGATC	0.612																																						ENST00000337975.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1429-1431)Gag>Aag		kelch-like family member 25		C	LYS/GLU	0,4404		0,0,2202	84	77	80		1429	5.7	1	15		80	1,8597	1.2+/-3.3	0,1,4298	no	missense	KLHL25	NM_022480.3	56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	477/590	86311613	1,13001	2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86311613C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1429G>A	15.37:g.86311613C>T	ENSP00000336800:p.Glu477Lys					KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.E477K	p.E477K	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN			2	1703	-			477					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.1429G>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745761	0.30955	0.0	1.16E-4	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.78003	-1.14;-1.14	5.71	5.71	0.89125	Kelch-type beta propeller (1);	0.056938	0.64402	D	0.000002	T	0.73877	0.3643	L	0.39147	1.195	0.44852	D	0.997868	B	0.28470	0.213	B	0.29862	0.108	T	0.71991	-0.4425	10	0.59425	D	0.04	.	18.8314	0.92141	0.0:1.0:0.0:0.0	.	477	Q9H0H3	ENC2_HUMAN	K	477;446;477	ENSP00000336800:E477K;ENSP00000444739:E477K	ENSP00000336800:E477K	E	-	1	0	KLHL25	84112617	0.990000	0.36364	0.993000	0.49108	0.257000	0.26127	3.248000	0.51430	2.700000	0.92200	0.462000	0.41574	GAG		0.612	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		23	475	0	0	0	1	0	23	475					T	86311613	C	T	86311613	3	4	92	1	0	0	0	0	1	0	0	0	8410	893	31	1	344	1	KLHL25	15	86311613	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	9815487	86311613	16219779	59	33918											
MAN2A2	4122	broad.mit.edu	37	chr15	91454724	91454724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagggtcagcccctggccGtgcagatcagcgcacactgg	15	13	2	1	rs146632780	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr15:91454724G>A	ENST00000559717.1	+	14	2512	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	MAN2A2_ENST00000431652.2_Missense_Mutation_p.V193M|MAN2A2_ENST00000360468.3_Missense_Mutation_p.V685M|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	685					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)			GCCCCTGGCCGTGCAGATCAG	0.647																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2053-2055)Gtg>Atg		mannosidase, alpha, class 2A, member 2		G	MET/VAL	8,4388	14.3+/-33.2	0,8,2190	91	80	84		2053	5.5	1	15	dbSNP_134	84	0,8596		0,0,4298	yes	missense	MAN2A2	NM_006122.2	21	0,8,6488	AA,AG,GG		0.0,0.182,0.0616	benign	685/1151	91454724	8,12984	2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91454724G>A	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2053G>A	15.37:g.91454724G>A	ENSP00000452948:p.Val685Met					MAN2A2_ENST00000431652.2_Missense_Mutation_p.V193M|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V685M	p.V685M	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		13	2071	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		685					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.2053G>A	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595953	0.46318	0.00182	0.0	ENSG00000196547	ENST00000360468;ENST00000431652	T;T	0.79247	-1.25;-1.25	5.49	5.49	0.81192	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.112697	0.64402	D	0.000012	D	0.83899	0.5354	M	0.81942	2.565	0.80722	D	1	P;P;P	0.41848	0.577;0.763;0.763	B;P;P	0.48901	0.278;0.594;0.594	D	0.83927	0.0304	10	0.41790	T	0.15	-8.4381	15.8566	0.78983	0.0:0.0:0.8639:0.1361	.	193;313;685	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	M	685;193	ENSP00000353655:V685M;ENSP00000388221:V193M	ENSP00000353655:V685M	V	+	1	0	MAN2A2	89255728	1.000000	0.71417	0.959000	0.39883	0.039000	0.13416	4.364000	0.59479	2.622000	0.88805	0.549000	0.68633	GTG		0.647	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		4	233	0	0	0	1	0	4	233					A	91454724	G	A	91454724	3	1	92	1	0	0	0	0	1	0	0	0	9256	1145	40	1	2103	1	MAN2A2	15	91454724	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	5143111	91454724	11076668	60	33919											
PIGQ	9091	broad.mit.edu	37	chr16	633162	633162	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgctcctgaacacgGcaggccctgctatcacacct	10	15	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:633162G>A	ENST00000026218.5	+	10	1899	c.1811G>A	c.(1810-1812)gGc>gAc	p.G604D	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	604					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)				CCTGAACACGGCAGGCCCTGC	0.642																																						ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1810-1812)gGc>gAc		phosphatidylinositol glycan anchor biosynthesis, class Q							113	113	113					16																	633162		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633162G>A	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.1811G>A	16.37:g.633162G>A	ENSP00000026218:p.Gly604Asp					PIGQ_ENST00000321878.5_3'UTR	p.G604D	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	1899	+		Hepatocellular(780;0.00335)	604					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1811G>A	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379045	0.24944	.	.	ENSG00000007541	ENST00000026218	T	0.25912	1.77	3.18	-0.83	0.10792	.	.	.	.	.	T	0.09686	0.0238	N	0.08118	0	0.19300	N	0.999972	B;B	0.18013	0.025;0.001	B;B	0.15870	0.014;0.001	T	0.34725	-0.9817	8	.	.	.	0.0578	3.0773	0.06251	0.4718:0.0:0.3279:0.2004	.	174;604	B3KRR7;Q9BRB3	.;PIGQ_HUMAN	D	604	ENSP00000026218:G604D	.	G	+	2	0	PIGQ	573163	0.000000	0.05858	0.102000	0.21198	0.028000	0.11728	-0.042000	0.12063	-0.023000	0.13963	-0.481000	0.04817	GGC		0.642	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		5	652	0	0	0	1	0	5	652					A	633162	G	A	633162	3	1	92	1	0	0	0	0	1	0	0	0	11938	1203	42	2	1911	2	PIGQ	16	633162	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		633162	89721591	61	33920											
ADCY9	115	broad.mit.edu	37	chr16	4163864	4163864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcagaaatgtgaactttgCcggccactcccagctgctcc	8	16	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:4163864C>T	ENST00000294016.3	-	2	2118	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	527					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						GTGAACTTTGCCGGCCACTCC	0.522																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1579-1581)gGc>gAc		adenylate cyclase 9							99	101	100					16																	4163864		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4163864C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1580G>A	16.37:g.4163864C>T	ENSP00000294016:p.Gly527Asp						p.G527D	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	2118	-			527					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1580G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018606	0.75275	.	.	ENSG00000162104	ENST00000294016	D	0.86562	-2.14	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.93713	0.7991	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94090	0.7352	10	0.72032	D	0.01	.	19.2017	0.93713	0.0:1.0:0.0:0.0	.	527	O60503	ADCY9_HUMAN	D	527	ENSP00000294016:G527D	ENSP00000294016:G527D	G	-	2	0	ADCY9	4103865	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.818000	0.86416	2.552000	0.86080	0.555000	0.69702	GGC		0.522	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			5	536	0	0	0	1	0	5	536					T	4163864	C	T	4163864	3	4	92	1	0	0	0	0	1	0	0	0	301	739	26	2	2521	2	ADCY9	16	4163864	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	3530702	4163864	86190889	62	33921											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	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						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				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						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	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.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		9	309						9	309	---	---	---	---	-	30982811	TCC	-	30982809	7	5	92	1	0	1	0	1	0	0	0	0	14180	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-IB-AAUM-01A-11D-A377-08	26818945	30982809	59371944	63	33922											
ITFG1	81533	broad.mit.edu	37	chr16	47195677	47195677	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttaccttcgagggacattgtGagggtatggaatgacaatta	12	5	0	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:47195677G>A	ENST00000320640.6	-	16	1873	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	549						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				GGGACATTGTGAGGGTATGGA	0.373																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1645-1647)Cac>Tac		integrin alpha FG-GAP repeat containing 1							206	184	191					16																	47195677		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47195677G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1645C>T	16.37:g.47195677G>A	ENSP00000319918:p.His549Tyr					ITFG1_ENST00000544001.2_Missense_Mutation_p.H436Y|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	p.H549Y	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			16	1873	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	549					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1645C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474395	0.63737	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.59	5.59	0.84812	.	0.050252	0.85682	D	0.000000	T	0.52948	0.1766	L	0.44542	1.39	0.80722	D	1	P;B	0.35612	0.512;0.225	B;B	0.37047	0.24;0.158	T	0.46247	-0.9205	9	0.16420	T	0.52	-18.2506	19.5992	0.95552	0.0:0.0:1.0:0.0	.	436;549	F5GXC5;Q8TB96	.;TIP_HUMAN	Y	549;209;294;436	.	ENSP00000319918:H549Y	H	-	1	0	ITFG1	45753178	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.229000	0.78088	2.640000	0.89533	0.467000	0.42956	CAC		0.373	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		24	429	0	0	0	1	0	24	429					A	47195677	G	A	47195677	3	1	92	1	0	0	0	0	1	0	0	0	7899	1290	45	2	205	2	ITFG1	16	47195677	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	16212868	47195677	43159076	64	33923											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			11	325						11	325	---	---	---	---	-	57731887	GGA	-	57731885	7	5	92	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-IB-AAUM-01A-11D-A377-08	10536208	57731885	32622868	65	33924											
VPS53	55275	broad.mit.edu	37	chr17	556535	556535	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctggtgacagtttacctttCggaaagctgccggatctgcg	12	10	2	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:556535C>T	ENST00000571805.1	-	7	740	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E173K|VPS53_ENST00000437048.2_Missense_Mutation_p.E202K			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	202					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)		GTTTACCTTTCGGAAAGCTGC	0.483																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(604-606)Gaa>Aaa		vacuolar protein sorting 53 homolog (S. cerevisiae)							80	80	80					17																	556535		2203	4299	6502	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:556535C>T		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.604G>A	17.37:g.556535C>T	ENSP00000459312:p.Glu202Lys					VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E173K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.E202K	p.E202K	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	7	750	-			202					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.604G>A		.	.	.	.	.	.	.	.	.	.	C	16.90	3.248797	0.59103	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000389040	T;T;T	0.31510	1.49;1.49;1.49	5.6	5.6	0.85130	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	N	0.16201	0.385	0.80722	D	1	B;B;P	0.37038	0.209;0.211;0.579	B;B;B	0.35727	0.029;0.103;0.209	T	0.03695	-1.1012	10	0.40728	T	0.16	.	18.5315	0.90993	0.0:1.0:0.0:0.0	.	202;202;173	Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;VPS53_HUMAN;.	K	202;173;202	ENSP00000401435:E202K;ENSP00000291074:E173K;ENSP00000373692:E202K	ENSP00000291074:E173K	E	-	1	0	VPS53	503285	1.000000	0.71417	0.997000	0.53966	0.261000	0.26267	7.176000	0.77643	2.800000	0.96347	0.543000	0.68304	GAA		0.483	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		5	859	0	0	0	1	0	5	859					T	556535	C	T	556535	3	4	92	1	0	0	0	0	1	0	0	0	17269	893	31	1	1973	1	VPS53	17	556535	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08		556535	80638675	66	33925											
DVL2	1856	broad.mit.edu	37	chr17	7137472	7137472	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatcgccgagggtgatgCgctcggcggggacagggatc	18	9	0	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:7137472C>T	ENST00000005340.5	-	1	392	c.110G>A	c.(109-111)cGc>cAc	p.R37H	DVL2_ENST00000575458.1_Missense_Mutation_p.R37H|PHF23_ENST00000570753.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	37	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GAGGGTGATGCGCTCGGCGGG	0.602																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(109-111)cGc>cAc		dishevelled segment polarity protein 2							103	110	108					17																	7137472		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7137472C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.110G>A	17.37:g.7137472C>T	ENSP00000005340:p.Arg37His					DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			1	392	-			37			DIX.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.110G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821401	0.90873	.	.	ENSG00000004975	ENST00000005340	T	0.43294	0.95	4.51	4.51	0.55191	DIX (3);	0.287347	0.32640	N	0.005840	T	0.51652	0.1687	L	0.53249	1.67	0.36170	D	0.848736	D;D;D	0.69078	0.997;0.996;0.997	P;P;P	0.60789	0.879;0.703;0.879	T	0.61787	-0.6991	10	0.56958	D	0.05	-13.7627	8.5504	0.33449	0.0:0.8922:0.0:0.1078	.	37;37;37	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	H	37	ENSP00000005340:R37H	ENSP00000005340:R37H	R	-	2	0	DVL2	7078196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.334000	0.52097	2.055000	0.61198	0.484000	0.47621	CGC		0.602	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		6	802	0	0	0	1	0	6	802					T	7137472	C	T	7137472	3	4	92	1	0	0	0	0	1	0	0	0	4852	768	27	1	2160	1	DVL2	17	7137472	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	6580937	7137472	74057738	67	33926											
KDM6B	23135	broad.mit.edu	37	chr17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC													ccactgcctccaccaccattINSaccaccaccaccaccaccac					rs375218857|rs61462443		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:7750177_7750178insACCACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACCACC	c.(751-756)ttacca>ttACCACCacca	p.264_265insPP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insPP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	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						ccaccaccattaccaccaccac	0.614																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(751-753)tcc>tACCACCcc		lysine (K)-specific demethylase 6B																																				SO:0001652	inframe_insertion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750177_7750178insACCACC	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.783_788dupACCACC	17.37:g.7750178_7750183dupACCACC	ENSP00000412513:p.Pro263_Pro264dup					KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YHP	p.251_251S>YHP	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			9	1141_1142	+			251			Pro-rich.		C9IZ40|Q96G33	In_Frame_Ins	INS	ENST00000448097.2	37	c.752_753insACCACC																																																																																					0.614	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		10	88						10	88	---	---	---	---	ACCACC	7750178	-	ACCACC	7750177	7	5	92	1	0	1	1	0	0	0	0	0	8168	1764	61	0	774	0	KDM6B	17	7750177	In_Frame_Ins	INS	-	TCGA-IB-AAUM-01A-11D-A377-08	612705	7750177	73445033	68	33927											
TP53I13	90313	broad.mit.edu	37	chr17	27898646	27898646	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctctaccacccctgtgcccAtccctggctgaagctccagc	7	20	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:27898646A>T	ENST00000301057.7	+	4	336	c.221A>T	c.(220-222)cAt>cTt	p.H74L	RP11-68I3.2_ENST00000581474.1_RNA|RP11-68I3.4_ENST00000579050.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	74						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)		CCCTGTGCCCATCCCTGGCTG	0.577																																						ENST00000301057.7																			0				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(220-222)cAt>cTt		tumor protein p53 inducible protein 13							117	125	122					17																	27898646		2090	4234	6324	SO:0001583	missense	90313					cytoplasm|integral to membrane|plasma membrane		g.chr17:27898646A>T	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.221A>T	17.37:g.27898646A>T	ENSP00000301057:p.His74Leu					RP11-68I3.2_ENST00000581474.1_RNA	p.H74L	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN		READ - Rectum adenocarcinoma(3;0.236)	4	336	+			74					Q7L5U3	Missense_Mutation	SNP	ENST00000301057.7	37	c.221A>T	CCDS42289.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907199	0.33628	.	.	ENSG00000167543	ENST00000301057	.	.	.	4.62	4.62	0.57501	.	0.078468	0.51477	D	0.000094	T	0.71264	0.3319	M	0.72118	2.19	0.40065	D	0.97594	D	0.71674	0.998	D	0.68943	0.961	T	0.74127	-0.3765	9	0.52906	T	0.07	-16.3851	10.7236	0.46055	1.0:0.0:0.0:0.0	.	74	Q8NBR0	P5I13_HUMAN	L	74	.	ENSP00000301057:H74L	H	+	2	0	TP53I13	24922772	0.985000	0.35326	1.000000	0.80357	0.915000	0.54546	2.593000	0.46180	1.844000	0.53588	0.374000	0.22700	CAT		0.577	TP53I13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447804.2	NM_138349		9	277	0	0	0	1	0	9	277					T	27898646	A	T	27898646	3	4	92	1	0	0	0	0	1	0	0	0	16439	217	8	5	235	5	TP53I13	17	27898646	Missense_Mutation	SNP	A	TCGA-IB-AAUM-01A-11D-A377-08	20148469	27898646	53296564	69	33928											
RHOT1	55288	broad.mit.edu	37	chr17	30521098	30521098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttggttatgatgatgacctgGatttgacacctgaatatttg	10	5	0	5			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:30521098G>A	ENST00000333942.6	+	11	1080	c.841G>A	c.(841-843)Gat>Aat	p.D281N	RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000358365.3_Missense_Mutation_p.D281N|RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	281					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGATGACCTGGATTTGACACC	0.363																																						ENST00000358365.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(841-843)Gat>Aat		ras homolog family member T1							493	481	485					17																	30521098		2203	4300	6503	SO:0001583	missense	55288				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr17:30521098G>A	AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"EF-hand domain containing"	21168	protein-coding gene	gene with protein product	"mitochondrial Rho (MIRO) GTPase 1"	613888	"ras homolog gene family, member T1"	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.841G>A	17.37:g.30521098G>A	ENSP00000334724:p.Asp281Asn					RHOT1_ENST00000581094.1_Missense_Mutation_p.D281N|RHOT1_ENST00000583994.1_Missense_Mutation_p.D154N|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.D281N|RHOT1_ENST00000394692.2_Missense_Mutation_p.D281N|RHOT1_ENST00000354266.3_Missense_Mutation_p.D260N|RHOT1_ENST00000333942.6_Missense_Mutation_p.D281N	p.D281N	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN			11	1068	+		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)	281					A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	ENST00000333942.6	37	c.841G>A	CCDS32612.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743488	0.69418	.	.	ENSG00000126858	ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	T;T;T	0.42131	0.98;0.98;0.98	5.97	5.97	0.96955	EF hand associated, type-2 (1);	0.088643	0.85682	D	0.000000	T	0.22166	0.0534	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.24317	0.101;0.0;0.0;0.0	B;B;B;B	0.24394	0.053;0.002;0.006;0.002	T	0.18745	-1.0327	10	0.38643	T	0.18	-6.5042	20.4135	0.99023	0.0:0.0:1.0:0.0	.	281;281;281;281	Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.;MIRO1_HUMAN;.;.	N	281	ENSP00000351132:D281N;ENSP00000378184:D281N;ENSP00000334724:D281N	ENSP00000334724:D281N	D	+	1	0	RHOT1	27545211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	GAT		0.363	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307		21	1707	0	0	0	1	0	21	1707					A	30521098	G	A	30521098	3	1	92	1	0	0	0	0	1	0	0	0	13393	1174	41	2	883	2	RHOT1	17	30521098	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	2622452	30521098	50674112	70	33929											
KIAA1267	284058	broad.mit.edu	37	chr17	44117226	44117239	+	Frame_Shift_Del	DEL	TGGAAATGCAGGCT	TGGAAATGCAGGCT	-													actgagatttcagcatgctcTggaaatgcaggcttgtggga							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:44117226_44117239delTGGAAATGCAGGCT	ENST00000262419.6	-	8	2502_2515	c.2032_2045delAGCCTGCATTTCCA	c.(2032-2046)agcctgcatttccagfs	p.SLHFQ678fs	KANSL1_ENST00000572904.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000393476.3_Frame_Shift_Del_p.SLHFQ35fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.SLHFQ678fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	678					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)											CAGCATGCTCTGGAAATGCAGGCTTGTGGGAACA	0.463																																						ENST00000262419.6																			0											c.(2032-2046)gfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44117226_44117239delTGGAAATGCAGGCT	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.2032_2045delAGCCTGCATTTCCA	17.37:g.44117226_44117239delTGGAAATGCAGGCT	ENSP00000262419:p.Ser678fs					KANSL1_ENST00000393476.3_Frame_Shift_Del_p.SLHFQ35fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.SLHFQ678fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.SLHFQ678fs	p.SLHFQ678fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			8	2502_2515	-			678					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	c.2032_2045delAGCCTGCATTTCCA	CCDS11503.1																																																																																				0.463	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		15	727						15	727	---	---	---	---	-	44117239	TGGAAATGCAGGCT	-	44117226	7	5	92	1	0	1	0	1	0	0	0	0	8249	1580	55	0	1304	0	KIAA1267	17	44117226	Frame_Shift_Del	DEL	TGGAAATGCAGGCT	TCGA-IB-AAUM-01A-11D-A377-08	13596128	44117226	37077984	71	33930											
ZACN	353174	broad.mit.edu	37	chr17	74077980	74077982	+	In_Frame_Del	DEL	CTG	CTG	-													cagtttactacttcaccatcCtgctgctgctgctcttcctc							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr17:74077980_74077982delCTG	ENST00000334586.5	+	8	981_983	c.898_900delCTG	c.(898-900)ctgdel	p.L304del	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	304	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTTCACCATCCTGCTGCTGCTGC	0.655																																						ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(898-900)del		zinc activated ligand-gated ion channel																																				SO:0001651	inframe_deletion	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077980_74077982delCTG	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.898_900delCTG	17.37:g.74077989_74077991delCTG	ENSP00000334854:p.Leu304del					EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	p.L304del	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			8	981_983	+			304			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	In_Frame_Del	DEL	ENST00000334586.5	37	c.898_900delCTG	CCDS11740.2																																																																																				0.655	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		8	451						8	451	---	---	---	---	-	74077982	CTG	-	74077980	7	5	92	1	0	1	0	1	0	0	0	0	17564	680	24	0	928	0	ZACN	17	74077980	In_Frame_Del	DEL	CTG	TCGA-IB-AAUM-01A-11D-A377-08	29960754	74077980	7117230	72	33931											
SMAD4	4089	broad.mit.edu	37	chr18	48604703	48604703	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagttttgtgaaaggcTggggaccggattacccaaga	15	6	0	3	rs377767369		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:48604703T>G	ENST00000342988.3	+	12	2063	c.1525T>G	c.(1525-1527)Tgg>Ggg	p.W509G	SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G|SMAD4_ENST00000588745.1_Missense_Mutation_p.W413G|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	509	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)		TGTGAAAGGCTGGGGACCGGA	0.473																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(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						c.(1525-1527)Tgg>Ggg		SMAD family member 4							114	103	107					18																	48604703		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604703T>G	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.1525T>G	18.37:g.48604703T>G	ENSP00000341551:p.Trp509Gly					SMAD4_ENST00000588745.1_Missense_Mutation_p.W413G|SMAD4_ENST00000398417.2_Missense_Mutation_p.W509G|SMAD4_ENST00000586253.1_3'UTR	p.W509G	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2063	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	509			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1525T>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460910	0.63513	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.99113	-5.44;-5.44	6.08	6.08	0.98989	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98200	1.0467	10	0.87932	D	0	.	15.6255	0.76851	0.0:0.0:0.0:1.0	.	509	Q13485	SMAD4_HUMAN	G	509	ENSP00000341551:W509G;ENSP00000381452:W509G	ENSP00000341551:W509G	W	+	1	0	SMAD4	46858701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.819000	0.86621	2.330000	0.79161	0.533000	0.62120	TGG		0.473	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		20	253	0	0	0	1	0	20	253					G	48604703	T	G	48604703	3	3	92	1	0	0	0	0	1	0	0	0	14810	1580	55	4	1567	4	SMAD4	18	48604703	Missense_Mutation	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08		48604703	29472545	73	33932											
TSHZ1	10194	broad.mit.edu	37	chr18	72998573	72998573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagaatggcgccagctAcacctggcagtttgaggccc	11	14	0	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr18:72998573A>G	ENST00000580243.1	+	2	1559	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	TSHZ1_ENST00000322038.5_Missense_Mutation_p.Y359C			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	404					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGCGCCAGCTACACCTGGCAG	0.612																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1075-1077)tAc>tGc		teashirt zinc finger homeobox 1							74	77	76					18																	72998573		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998573A>G	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	10669	protein-coding gene	gene with protein product		614427	"serologically defined colon cancer antigen 33", "teashirt zinc finger 1", "teashirt family zinc finger 1"	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1211A>G	18.37:g.72998573A>G	ENSP00000464391:p.Tyr404Cys					TSHZ1_ENST00000580243.1_Missense_Mutation_p.Y404C	p.Y359C	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1660	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	404					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1076A>G		.	.	.	.	.	.	.	.	.	.	A	10.70	1.424041	0.25639	.	.	ENSG00000179981	ENST00000322038	T	0.20463	2.07	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.74647	2.275	0.45216	D	0.998227	D	0.89917	1.0	D	0.85130	0.997	T	0.49570	-0.8926	10	0.87932	D	0	-30.001	14.9402	0.70989	1.0:0.0:0.0:0.0	.	404	Q6ZSZ6	TSH1_HUMAN	C	359	ENSP00000323584:Y359C	ENSP00000323584:Y359C	Y	+	2	0	TSHZ1	71127561	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.794000	0.91867	2.371000	0.80710	0.561000	0.74099	TAC		0.612	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		4	197	0	0	0	1	0	4	197					G	72998573	A	G	72998573	3	3	92	1	0	0	0	0	1	0	0	0	16676	391	14	4	1078	4	TSHZ1	18	72998573	Missense_Mutation	SNP	A	TCGA-IB-AAUM-01A-11D-A377-08	24393870	72998573	5078675	74	33933											
KRI1	65095	broad.mit.edu	37	chr19	10671101	10671101	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatccaactcagggtcGttccagtattccttgagatg	8	12	2	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:10671101G>A	ENST00000312962.6	-	9	724	c.705C>T	c.(703-705)aaC>aaT	p.N235N	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Silent_p.N231N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	229	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)			ACTCAGGGTCGTTCCAGTATT	0.552																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(703-705)aaC>aaT		KRI1 homolog (S. cerevisiae)							112	92	98					19																	10671101		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10671101G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.705C>T	19.37:g.10671101G>A						KRI1_ENST00000361821.5_Silent_p.N231N	p.N235N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		9	724	-			235			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.705C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	9.792	1.178289	0.21787	.	.	ENSG00000129347	ENST00000543682	.	.	.	5.36	3.24	0.37175	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49133	-0.8971	4	.	.	.	-58.2916	7.2862	0.26340	0.3358:0.0:0.6642:0.0	.	.	.	.	M	173	.	.	T	-	2	0	KRI1	10532101	0.144000	0.22641	0.993000	0.49108	0.925000	0.55904	0.275000	0.18698	0.652000	0.30806	0.563000	0.77884	ACG		0.552	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		39	488	0	0	0	1	0	39	488					A	10671101	G	A	10671101	2	1	92	1	0	0	0	0	0	0	0	1	8474	1136	40	1		1	KRI1	19	10671101	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		10671101	48457882	75	33934											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		7	648	0	0	0	1	0	7	648					A	12575498	G	A	12575498	3	1	92	1	0	0	0	0	1	0	0	0	18166	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	1904397	12575498	46553485	76	33935											
OR10H3	26532	broad.mit.edu	37	chr19	15852910	15852910	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccttctgctgagggccgGcacaagactttctccacttg	9	13	2	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:15852910G>A	ENST00000305892.1	+	1	708	c.708G>A	c.(706-708)cgG>cgA	p.R236R		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	236						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)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGAGGGCCGGCACAAGACTT	0.502																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(706-708)cgG>cgA		olfactory receptor, family 10, subfamily H, member 3							218	192	201					19																	15852910		2203	4300	6503	SO:0001819	synonymous_variant	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852910G>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.708G>A	19.37:g.15852910G>A							p.R236R	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	708	+			236					Q2HIZ3|Q6IFQ0	Silent	SNP	ENST00000305892.1	37	c.708G>A	CCDS12334.1																																																																																				0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			5	681	0	0	0	1	0	5	681					A	15852910	G	A	15852910	2	1	92	1	0	0	0	0	0	0	0	1	10949	1190	42	2		2	OR10H3	19	15852910	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	3277412	15852910	43276073	77	33936											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	2	10	1	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37	41	39					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		7	446	0	0	0	1	0	7	446					T	21606468	C	T	21606468	3	4	92	1	0	0	0	0	1	0	0	0	17997	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	5753558	21606468	37522515	78	33937											
ZNF781	163115	broad.mit.edu	37	chr19	38160168	38160168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtgttggacaggagaCaaaaaccttcccacactgct	8	11	0	1			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:38160168C>A	ENST00000590008.1	-	5	1734	c.882G>T	c.(880-882)ttG>ttT	p.L294F	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.L294F			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	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(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						GGACAGGAGACAAAAACCTTC	0.383																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(880-882)ttG>ttT		zinc finger protein 781							116	113	114					19																	38160168		2203	4300	6503	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160168C>A	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.882G>T	19.37:g.38160168C>A	ENSP00000466370:p.Leu294Phe					ZNF781_ENST00000590008.1_Missense_Mutation_p.L294F|ZFP30_ENST00000586732.1_Intron	p.L294F	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	1630	-			294					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.882G>T	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	8.075	0.771033	0.16051	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.06142	3.34	2.07	-4.15	0.03881	.	.	.	.	.	T	0.03305	0.0096	L	0.35341	1.055	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.48305	-0.9047	9	0.02654	T	1	-0.7011	4.0507	0.09793	0.4516:0.3457:0.0:0.2027	.	294	Q8N8C0	ZN781_HUMAN	F	294	ENSP00000351391:L294F	ENSP00000351391:L294F	L	-	3	2	ZNF781	42852008	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.780000	0.01775	-1.890000	0.01111	-1.760000	0.00671	TTG		0.383	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		25	421	1	0	9.57634e-11	1	1.03993e-10	25	421					A	38160168	C	A	38160168	3	1	92	1	0	0	0	0	1	0	0	0	18207	477	17	3	105	3	ZNF781	19	38160168	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	16553700	38160168	20968815	79	33938											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	552	0	0	0	1	0	6	552					A	40395919	G	A	40395919	3	1	92	1	0	0	0	0	1	0	0	0	5803	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	2235751	40395919	18733064	80	33939											
IZUMO1	284359	broad.mit.edu	37	chr19	49248495	49248495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatcactgtctgtgatgcGtttcagatccttcagcaaac	7	11	4	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49248495G>A	ENST00000332955.2	-	3	833	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	96					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TCTGTGATGCGTTTCAGATCC	0.507																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(286-288)Cgc>Tgc		izumo sperm-egg fusion 1							162	130	141					19																	49248495		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49248495G>A	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.286C>T	19.37:g.49248495G>A	ENSP00000327786:p.Arg96Cys						p.R96C	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	3	833	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	96					Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.286C>T	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951427	0.73787	.	.	ENSG00000182264	ENST00000332955	T	0.25749	1.78	5.1	2.88	0.33553	.	0.237333	0.30101	N	0.010409	T	0.42720	0.1215	L	0.59436	1.845	0.39381	D	0.966252	D	0.89917	1.0	D	0.97110	1.0	T	0.33727	-0.9857	10	0.87932	D	0	-9.5316	8.5236	0.33291	0.0:0.1681:0.6575:0.1744	.	96	Q8IYV9	IZUM1_HUMAN	C	96	ENSP00000327786:R96C	ENSP00000327786:R96C	R	-	1	0	IZUMO1	53940307	0.994000	0.37717	0.996000	0.52242	0.994000	0.84299	2.965000	0.49200	0.624000	0.30286	0.491000	0.48974	CGC		0.507	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		13	283	0	0	0	1	0	13	283					A	49248495	G	A	49248495	3	1	92	1	0	0	0	0	1	0	0	0	7963	1145	40	1	798	1	IZUMO1	19	49248495	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	8852576	49248495	9880488	81	33940											
LHB	3972	broad.mit.edu	37	chr19	49519935	49519935	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggctccctggatgcccatgCcccgcccatgctcagcagca	10	19	1	0	rs146354951	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:49519935C>T	ENST00000221421.2	-	2	51	c.52G>A	c.(52-54)Gca>Aca	p.A18T	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	18			A -> T (more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775). {ECO:0000269|PubMed:11870227}.		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)	p.A18T(1)		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)		GATGCCCATGCCCCGCCCATG	0.647													C|||	39	0.00778754	0.0287	0.0014	5008	,	,		16431	0.0		0.0	False		,,,				2504	0.0					ENST00000221421.2																			1	Substitution - Missense(1)	p.A18T(1)	lung(1)	cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	GRCh37	CM022419	LHB	M	rs146354951	c.(52-54)Gca>Aca		luteinizing hormone beta polypeptide	Lutropin alfa(DB00044)|Menotropins(DB00032)	C	THR/ALA	91,4315	72.0+/-110.0	0,91,2112	80	67	72		52	1.3	0.1	19	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	missense	LHB	NM_000894.2	58	0,93,6410	TT,TC,CC		0.0233,2.0654,0.7151	benign	18/142	49519935	93,12913	2203	4300	6503	SO:0001583	missense	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519935C>T		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.52G>A	19.37:g.49519935C>T	ENSP00000221421:p.Ala18Thr						p.A18T	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	51	-		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)	18		A -> T (more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775).			Q9UDI0	Missense_Mutation	SNP	ENST00000221421.2	37	c.52G>A	CCDS12748.1	.	.	.	.	.	.	.	.	.	.	C	2.416	-0.334136	0.05278	0.020654	2.33E-4	ENSG00000104826	ENST00000221421;ENST00000391870	T	0.50277	0.75	3.62	1.28	0.21552	.	0.714995	0.12676	N	0.448353	T	0.15782	0.0380	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.09640	-1.0665	10	0.27082	T	0.32	-23.5242	4.0924	0.09975	0.2284:0.6476:0.0:0.124	.	18	P01229	LSHB_HUMAN	T	18;34	ENSP00000221421:A18T	ENSP00000221421:A18T	A	-	1	0	LHB	54211747	0.003000	0.15002	0.061000	0.19648	0.011000	0.07611	0.550000	0.23345	0.900000	0.36469	-0.380000	0.06706	GCA		0.647	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		5	340	0	0	0	1	0	5	340					T	49519935	C	T	49519935	3	4	92	1	0	0	0	0	1	0	0	0	8793	739	26	2	381	2	LHB	19	49519935	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	271440	49519935	9609048	82	33941											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	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.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		10	940	0	0	0	1	0	10	940					A	53644386	T	A	53644386	2	1	92	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-IB-AAUM-01A-11D-A377-08	4124451	53644386	5484597	83	33942											
ZNF544	27300	broad.mit.edu	37	chr19	58773981	58773981	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcagtgtgggaaagccttttCagggagctctaaccttcttt	10	9	4	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr19:58773981C>G	ENST00000596652.1	+	6	2243	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.S670*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642*|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	670					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		AAAGCCTTTTCAGGGAGCTCT	0.453																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(2008-2010)tCa>tGa		zinc finger protein 544							113	116	115					19																	58773981		2203	4300	6503	SO:0001587	stop_gained	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773981C>G	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.2009C>G	19.37:g.58773981C>G	ENSP00000469635:p.Ser670*					ZNF544_ENST00000596652.1_Nonsense_Mutation_p.S670*|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Nonsense_Mutation_p.S528*|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.S642*|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.S642*|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.S642*	p.S670*	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2483	+		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)	670					A8K6J1|Q9UEX4	Nonsense_Mutation	SNP	ENST00000596652.1	37	c.2009C>G	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	37	6.545208	0.97654	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	.	.	.	2.94	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.0565	0.30608	0.1591:0.4408:0.4:0.0	.	.	.	.	X	670;642;222	.	ENSP00000269829:S670X	S	+	2	0	ZNF544	63465793	0.000000	0.05858	0.000000	0.03702	0.392000	0.30506	-2.916000	0.00696	-0.330000	0.08514	0.563000	0.77884	TCA		0.453	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		10	692	0	0	0	1	0	10	692					G	58773981	C	G	58773981	4	3	92	1	0	0	0	0	0	1	0	0	18030	838	29	5	2023	5	ZNF544	19	58773981	Nonsense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	5129595	58773981	355002	84	33943											
CST1	1469	broad.mit.edu	37	chr20	23729754	23729754	+	Frame_Shift_Del	DEL	C	C	-													tacgtcgaagaagtaattcaCccccccaacggtctgcacac							TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr20:23729754delC	ENST00000304749.2	-	2	311	c.241delG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Del_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					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)					AAGTAATTCACCCCCCCAACG	0.552																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(241-243)tgfs		cystatin SN							230	189	203					20																	23729754		2203	4300	6503	SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729754delC	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.241delG	20.37:g.23729754delC	ENSP00000305731:p.Val81fs					CST1_ENST00000398402.1_Frame_Shift_Del_p.V81fs	p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN			2	311	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Del	DEL	ENST00000304749.2	37	c.241delG	CCDS13160.1																																																																																				0.552	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		7	751						7	751	---	---	---	---	-	23729754	C	-	23729754	7	5	92	1	0	1	0	1	0	0	0	0	3981	507	18	0	192	0	CST1	20	23729754	Frame_Shift_Del	DEL	C	TCGA-IB-AAUM-01A-11D-A377-08		23729754	39295766	85	33944											
JAM2	58494	broad.mit.edu	37	chr21	27066110	27066110	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgatagatttcaatatccGgatcaaaaatgtgacaagaa	8	5	2	4	rs375256412		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr21:27066110G>T	ENST00000480456.1	+	4	834	c.284G>T	c.(283-285)cGg>cTg	p.R95L	JAM2_ENST00000425221.2_Missense_Mutation_p.R59L|JAM2_ENST00000312957.5_Missense_Mutation_p.R95L|JAM2_ENST00000400532.1_Missense_Mutation_p.R95L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	95	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTCAATATCCGGATCAAAAAT	0.378																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(283-285)cGg>cTg		junctional adhesion molecule 2							133	130	131					21																	27066110		1880	4109	5989	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27066110G>T	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.284G>T	21.37:g.27066110G>T	ENSP00000420419:p.Arg95Leu					JAM2_ENST00000312957.5_Missense_Mutation_p.R95L|JAM2_ENST00000400532.1_Missense_Mutation_p.R95L|JAM2_ENST00000425221.2_Missense_Mutation_p.R59L	p.R95L	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			4	834	+			95			Ig-like V-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.284G>T	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802133	0.70682	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.122923	0.52532	D	0.000074	T	0.69115	0.3075	L	0.47716	1.5	0.36013	D	0.838181	D;D;D;D;D	0.64830	0.983;0.994;0.994;0.992;0.987	P;D;D;P;P	0.65233	0.866;0.933;0.933;0.9;0.9	T	0.73078	-0.4096	10	0.44086	T	0.13	.	10.2808	0.43539	0.0869:0.0:0.9131:0.0	.	59;95;95;95;95	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	L	95;95;95;95;95;59	ENSP00000420419:R95L;ENSP00000383376:R95L;ENSP00000318416:R95L;ENSP00000392611:R59L	ENSP00000318416:R95L	R	+	2	0	JAM2	25987981	0.978000	0.34361	1.000000	0.80357	0.870000	0.49936	4.018000	0.57174	2.890000	0.99128	0.655000	0.94253	CGG		0.378	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			9	230	1	0	1.58986e-06	1	1.64919e-06	9	230					T	27066110	G	T	27066110	3	4	92	1	0	0	0	0	1	0	0	0	7973	1116	39	3	298	3	JAM2	21	27066110	Missense_Mutation	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		27066110	21063785	86	33945											
RFPL3	10738	broad.mit.edu	37	chr22	32754256	32754256	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcaagtgcatcaattcGctgcagaaggagccccatgg	11	12	2	1	rs61729170	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(196-198)tcG>tcA		ret finger protein-like 3							121	114	117					22																	32754256		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754256G>A	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.198G>A	22.37:g.32754256G>A						RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S	p.S66S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	403	+			66					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.198G>A	CCDS43011.1																																																																																				0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		5	477	0	0	0	1	0	5	477					A	32754256	G	A	32754256	2	1	92	1	0	0	0	0	0	0	0	1	13305	1074	38	1		1	RFPL3	22	32754256	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08		32754256	18550310	87	33946											
HMGXB4	10042	broad.mit.edu	37	chr22	35660888	35660888	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggtggctcccacaaatcGaaaaaaatgaaacctctcta	7	10	1	1	rs148445726		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:35660888G>A	ENST00000216106.5	+	5	635	c.507G>A	c.(505-507)tcG>tcA	p.S169S	HMGXB4_ENST00000444518.2_Silent_p.S60S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	169					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCACAAATCGAAAAAAATGA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		18777	0.0		0.001	False		,,,				2504	0.0					ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(505-507)tcG>tcA		HMG box domain containing 4		G		1,4405		0,1,2202	84	85	85		507	1.3	1	22	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	HMGXB4	NM_001003681.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		169/602	35660888	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660888G>A	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.507G>A	22.37:g.35660888G>A						HMGXB4_ENST00000444518.2_Silent_p.S60S	p.S169S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	635	+			169					O75672|O75673|Q9UMT5	Silent	SNP	ENST00000216106.5	37	c.507G>A	CCDS33641.1																																																																																				0.463	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		16	412	0	0	0	1	0	16	412					A	35660888	G	A	35660888	2	1	92	1	0	0	0	0	0	0	0	1	7269	1045	37	1		1	HMGXB4	22	35660888	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	2906632	35660888	15643678	88	33947											
PVALB	5816	broad.mit.edu	37	chr22	37209707	37209707	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgtcaaccccaattttgCcgtccccatctttgtctcca	4	18	3	0			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chr22:37209707C>T	ENST00000216200.5	-	4	342	c.287G>A	c.(286-288)gGc>gAc	p.G96D	PVALB_ENST00000404171.1_Missense_Mutation_p.G64D|CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000417718.2_Missense_Mutation_p.G96D	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	96	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						CCCAATTTTGCCGTCCCCATC	0.512																																						ENST00000216200.5																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(286-288)gGc>gAc		parvalbumin							164	143	151					22																	37209707		2203	4300	6503	SO:0001583	missense	5816						calcium ion binding	g.chr22:37209707C>T		CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"EF-hand domain containing"	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.287G>A	22.37:g.37209707C>T	ENSP00000216200:p.Gly96Asp					PVALB_ENST00000404171.1_Missense_Mutation_p.G64D|PVALB_ENST00000417718.2_Missense_Mutation_p.G96D	p.G96D	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN			4	342	-			96			EF-hand 2.		B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	ENST00000216200.5	37	c.287G>A	CCDS13933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.60|17.60	3.429275|3.429275	0.62844|0.62844	.|.	.|.	ENSG00000100362|ENSG00000100362	ENST00000406910|ENST00000417718;ENST00000216200;ENST00000404171;ENST00000443735	.|D;D;D;D	.|0.90444	.|-1.77;-1.77;-1.77;-2.67	5.41|5.41	4.38|4.38	0.52667|0.52667	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95095|0.95095	0.8411|0.8411	M|M	0.93150|0.93150	3.385|3.385	0.80722|0.80722	D|D	1|1	.|P	.|0.45986	.|0.87	.|P	.|0.52189	.|0.692	D|D	0.95741|0.95741	0.8783|0.8783	5|10	.|0.66056	.|D	.|0.02	-9.8028|-9.8028	14.5249|14.5249	0.67881|0.67881	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|96	.|P20472	.|PRVA_HUMAN	T|D	95|96;96;64;96	.|ENSP00000400247:G96D;ENSP00000216200:G96D;ENSP00000386089:G64D;ENSP00000406977:G96D	.|ENSP00000216200:G96D	A|G	-|-	1|2	0|0	PVALB|PVALB	35539653|35539653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.480000|0.480000	0.33159|0.33159	4.628000|4.628000	0.61282|0.61282	1.277000|1.277000	0.44412|0.44412	0.645000|0.645000	0.84053|0.84053	GCA|GGC		0.512	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		8	954	0	0	0	1	0	8	954					T	37209707	C	T	37209707	3	4	92	1	0	0	0	0	1	0	0	0	12886	739	26	2	53	2	PVALB	22	37209707	Missense_Mutation	SNP	C	TCGA-IB-AAUM-01A-11D-A377-08	1548819	37209707	14094859	89	33948											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	472						7	472	---	---	---	---	-	149937528	GGC	-	149937526	7	5	92	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-IB-AAUM-01A-11D-A377-08		149937526	5333034	90	33949											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	265	0	0	0	1	0	5	265					A	150156360	G	A	150156360	2	1	92	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-IB-AAUM-01A-11D-A377-08	218834	150156360	5114200	91	33950											
PLXNA3	55558	broad.mit.edu	37	chrX	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-													ctgctgctcttccttgccgtGgggggggccctgggcaacag					rs375310385		TCGA-IB-AAUM-01A-11D-A377-08	TCGA-IB-AAUM-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b61630e4-5b3e-455b-b6df-ca8b76a678cd	3323a86b-52b7-46b7-aa03-cdfd4a3bb710	g.chrX:153688565delG	ENST00000369682.3	+	2	217	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682																																						ENST00000369682.3																			1	Insertion - Frameshift(1)	p.A17fs*39(1)	ovary(1)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(40-42)gtfs		plexin A3				47,59,3613		1,0,29,16,2,35,20,1525,499	34	32	33			0.6	0	X		33	69,109,6290		1,0,27,40,3,50,53,2275,1663	no	codingComplex	PLXNA3	NM_017514.3		2,0,56,56,5,85,73,3800,2162	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.752,2.8502,2.7879			153688565	116,168,9903	2202	4292	6494	SO:0001589	frameshift_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153688565delG	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.42delG	X.37:g.153688565delG	ENSP00000358696:p.Val14fs						p.V14fs	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			2	217	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		14					Q5HY36	Frame_Shift_Del	DEL	ENST00000369682.3	37	c.42delG	CCDS14752.1																																																																																				0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		9	274						9	274	---	---	---	---	-	153688565	G	-	153688565	7	5	92	1	0	1	0	1	0	0	0	0	12163	1335	47	0	44	0	PLXNA3	23	153688565	Frame_Shift_Del	DEL	G	TCGA-IB-AAUM-01A-11D-A377-08	3532205	153688565	1581995	92	33951											
MTOR	2475	broad.mit.edu	37	chr1	11217239	11217239	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcctcgaggcagcgcatgCggcccagcatcagctctggg	15	14	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:11217239C>T	ENST00000361445.4	-	30	4515	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1480	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GCAGCGCATGCGGCCCAGCAT	0.532																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4438-4440)cGc>cAc		mechanistic target of rapamycin (serine/threonine kinase)							192	176	181					1																	11217239		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11217239C>T	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4439G>A	1.37:g.11217239C>T	ENSP00000354558:p.Arg1480His						p.R1480H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			30	4515	-			1480			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4439G>A	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577708	0.65878	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65549	-0.16	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	L	0.31926	0.97	0.80722	D	1	B	0.13145	0.007	B	0.01281	0.0	T	0.46190	-0.9209	10	0.30854	T	0.27	-1.1882	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1480	P42345	MTOR_HUMAN	H	1480	ENSP00000354558:R1480H	ENSP00000354558:R1480H	R	-	2	0	MTOR	11139826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	CGC		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		5	416	0	0	0	1	0	5	416					T	11217239	C	T	11217239	3	4	93	1	0	0	0	0	1	0	0	0	9995	768	27	1	3326	1	MTOR	1	11217239	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		11217239	238033382	1	33952											
PLA2G2C	391013	broad.mit.edu	37	chr1	20501534	20501534	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacggggatccctttatcccCaagcccacagtagcagccat	8	16	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:20501534C>A	ENST00000429261.2	-	2	205	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W|PLA2G2C_ENST00000495760.2_5'UTR			Q5R387	PA2GC_HUMAN	phospholipase A2, group IIC	49					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTTATCCCCAAGCCCACAG	0.502																																						ENST00000429261.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7						c.(145-147)Ggg>Tgg		phospholipase A2, group IIC							57	63	61					1																	20501534		1964	4165	6129	SO:0001583	missense	391013							g.chr1:20501534C>A			1p36.12	2010-06-04	2003-10-13		ENSG00000187980	ENSG00000187980			9032	protein-coding gene	gene with protein product			"phospholipase A2, group IIC (possible pseudogene)"			8838795	Standard	NM_001105572		Approved		uc009vpq.1	Q5R387	OTTHUMG00000002705	ENST00000429261.2:c.145G>T	1.37:g.20501534C>A	ENSP00000389335:p.Gly49Trp					PLA2G2C_ENST00000495760.2_5'UTR|PLA2G2C_ENST00000247992.5_Missense_Mutation_p.G52W	p.G49W						UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	205	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)						Q7M4M6	Missense_Mutation	SNP	ENST00000429261.2	37	c.145G>T		.	.	.	.	.	.	.	.	.	.	C	18.49	3.635175	0.67130	.	.	ENSG00000187980	ENST00000429261;ENST00000247992	T;D	0.86030	1.34;-2.06	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000031	D	0.94621	0.8266	H	0.96142	3.775	0.50632	D	0.99988	.	.	.	.	.	.	D	0.95955	0.8957	8	0.87932	D	0	.	14.0795	0.64912	0.0:1.0:0.0:0.0	.	.	.	.	W	49;52	ENSP00000389335:G49W;ENSP00000247992:G52W	ENSP00000247992:G52W	G	-	1	0	PLA2G2C	20374121	0.879000	0.30193	1.000000	0.80357	0.765000	0.43378	2.413000	0.44618	2.364000	0.80123	0.655000	0.94253	GGG		0.502	PLA2G2C-001	PUTATIVE	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000007689.3	NM_001105572		5	127	1	0	0.0215528	1	0.0221745	5	127					A	20501534	C	A	20501534	3	1	93	1	0	0	0	0	1	0	0	0	12038	594	21	3	310	3	PLA2G2C	1	20501534	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	9284295	20501534	228749087	2	33953											
ADPRHL2	54936	broad.mit.edu	37	chr1	36557583	36557583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccatcctgcaggccctgGctgtgcacctggccttgcag	13	16	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:36557583G>A	ENST00000373178.4	+	4	619	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	197						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GCAGGCCCTGGCTGTGCACCT	0.627																																						ENST00000373178.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(589-591)Gct>Act		ADP-ribosylhydrolase like 2							67	67	67					1																	36557583		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36557583G>A	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.589G>A	1.37:g.36557583G>A	ENSP00000362273:p.Ala197Thr						p.A197T	NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN			4	619	+		Myeloproliferative disorder(586;0.0393)	197					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.589G>A	CCDS402.1	.	.	.	.	.	.	.	.	.	.	G	36	5.663119	0.96745	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.35421	1.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.64067	-0.6494	10	0.30854	T	0.27	-11.8061	19.3486	0.94374	0.0:0.0:1.0:0.0	.	197	Q9NX46	ARHL2_HUMAN	T	197;117;43	ENSP00000362273:A197T	ENSP00000362273:A197T	A	+	1	0	ADPRHL2	36330170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.546000	0.85860	0.655000	0.94253	GCT		0.627	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		4	168	0	0	0	1	0	4	168					A	36557583	G	A	36557583	3	1	93	1	0	0	0	0	1	0	0	0	333	1203	42	2	603	2	ADPRHL2	1	36557583	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	16056049	36557583	212693038	3	33954											
MMACHC	25974	broad.mit.edu	37	chr1	45974781	45974781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaagcctagttctccctcccCggaccttccctttaccacac	5	19	1	0	rs564280688		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:45974781C>A	ENST00000401061.4	+	4	1023	c.743C>A	c.(742-744)cCg>cAg	p.P248Q		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	248					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)	p.P248L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCTCCCCGGACCTTCCC	0.622																																						ENST00000401061.4																			1	Substitution - Missense(1)	p.P248L(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(742-744)cCg>cAg		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						89	100	97					1																	45974781		1900	4113	6013	SO:0001583	missense	25974						cobalamin binding	g.chr1:45974781C>A		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.743C>A	1.37:g.45974781C>A	ENSP00000383840:p.Pro248Gln						p.P248Q	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			4	1023	+	Acute lymphoblastic leukemia(166;0.155)		248					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.743C>A	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924777	0.18056	.	.	ENSG00000132763	ENST00000401061	D	0.95103	-3.61	4.98	-0.315	0.12746	.	2.021430	0.01898	N	0.039021	D	0.86285	0.5896	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.76691	-0.2866	10	0.09338	T	0.73	6.9117	1.9274	0.03320	0.1464:0.4919:0.1292:0.2325	.	248	Q9Y4U1	MMAC_HUMAN	Q	248	ENSP00000383840:P248Q	ENSP00000383840:P248Q	P	+	2	0	MMACHC	45747368	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.003000	0.13083	-0.121000	0.11787	-0.222000	0.12452	CCG		0.622	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		5	431	1	0	0.248553	1	0.248553	5	431					A	45974781	C	A	45974781	3	1	93	1	0	0	0	0	1	0	0	0	9682	652	23	3	757	3	MMACHC	1	45974781	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	9417198	45974781	203275840	4	33955											
LRRC7	57554	broad.mit.edu	37	chr1	70488845	70488845	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccctgggaaaggggccagCgtgggattactctccaacct	12	14	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:70488845C>T	ENST00000035383.5	+	15	1498	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.R495C	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	490						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						AAGGGGCCAGCGTGGGATTAC	0.542																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1483-1485)Cgt>Tgt		leucine rich repeat containing 7							52	48	49					1																	70488845		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488845C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1468C>T	1.37:g.70488845C>T	ENSP00000035383:p.Arg490Cys					RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.R490C|LRRC7_ENST00000415775.2_Intron	p.R495C			Q96NW7	LRRC7_HUMAN			18	1901	+			490					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1483C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925926	0.52759	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.38077	1.16;1.24	5.86	5.86	0.93980	.	0.257341	0.35495	N	0.003162	T	0.10981	0.0268	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.35859	0.212	T	0.05273	-1.0895	10	0.72032	D	0.01	.	15.6849	0.77402	0.0:1.0:0.0:0.0	.	490	Q96NW7	LRRC7_HUMAN	C	495;490;313	ENSP00000309245:R495C;ENSP00000035383:R490C	ENSP00000035383:R490C	R	+	1	0	LRRC7	70261433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.775000	0.95449	0.585000	0.79938	CGT		0.542	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		56	75	0	0	0	1	0	56	75					T	70488845	C	T	70488845	3	4	93	1	0	0	0	0	1	0	0	0	9058	768	27	1	1526	1	LRRC7	1	70488845	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	24514064	70488845	178761776	5	33956											
ATXN7L2	127002	broad.mit.edu	37	chr1	110032901	110032901	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctttagttctgcacCtttgggagccggctggtgag	13	10	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110032901C>T	ENST00000369870.3	+	9	1260	c.1245C>T	c.(1243-1245)acC>acT	p.T415T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	415										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)		AGTTCTGCACCTTTGGGAGCC	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1243-1245)acC>acT		ataxin 7-like 2							104	94	97					1																	110032901		2203	4300	6503	SO:0001819	synonymous_variant	127002							g.chr1:110032901C>T	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.1245C>T	1.37:g.110032901C>T			OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1424		p.T415T	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		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)	9	1260	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	415						Silent	SNP	ENST00000369870.3	37	c.1245C>T	CCDS30794.1																																																																																				0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		6	282	0	0	0	1	0	6	282					T	110032901	C	T	110032901	2	4	93	1	0	0	0	0	0	0	0	1	1218	668	24	2		2	ATXN7L2	1	110032901	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	39544056	110032901	139217720	6	33957											
AMPD2	271	broad.mit.edu	37	chr1	110172900	110172900	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctggcccagatcggcatcGccatgtctccgctcagcaac	9	17	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110172900G>A	ENST00000256578.3	+	16	2551	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T|AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	731					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)		GATCGGCATCGCCATGTCTCC	0.652																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(2191-2193)Gcc>Acc		adenosine monophosphate deaminase 2							143	144	144					1																	110172900		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172900G>A	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.2191G>A	1.37:g.110172900G>A	ENSP00000256578:p.Ala731Thr					AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T|AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T	p.A731T	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	16	2551	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	731					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.2191G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.324955|5.324955	0.95708|0.95708	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.83335|.	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Adenosine/AMP deaminase (1);|.	0.102270|.	0.64402|.	D|.	0.000003|.	T|T	0.67344|0.67344	0.2883|0.2883	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.993;0.989;0.999|.	D;P;P;P|.	0.85130|.	0.997;0.739;0.705;0.873|.	T|T	0.66999|0.66999	-0.5781|-0.5781	10|5	0.54805|.	T|.	0.06|.	-24.088|-24.088	17.3347|17.3347	0.87277|0.87277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;612;731;650|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	T|H	650;731;731;656;613;612|701	ENSP00000345498:A650T;ENSP00000436541:A731T;ENSP00000256578:A731T;ENSP00000351573:A656T;ENSP00000437164:A613T;ENSP00000377292:A612T|.	ENSP00000256578:A731T|.	A|R	+|+	1|2	0|0	AMPD2|AMPD2	109974423|109974423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	9.595000|9.595000	0.98260|0.98260	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.652	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			6	385	0	0	0	1	0	6	385					A	110172900	G	A	110172900	3	1	93	1	0	0	0	0	1	0	0	0	586	1087	38	1	2294	1	AMPD2	1	110172900	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	139999	110172900	139077721	7	33958											
DTL	51514	broad.mit.edu	37	chr1	212209261	212209261	+	Missense_Mutation	SNP	C	C	G													caattcggtgctccgccagcCccagcttggcgtcctgagaa							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209261C>G	ENST00000366991.4	+	1	343	c.29C>G	c.(28-30)cCc>cGc	p.P10R	INTS7_ENST00000440600.2_5'Flank|INTS7_ENST00000366992.3_5'Flank|INTS7_ENST00000366993.3_5'Flank|DTL_ENST00000542077.1_Missense_Mutation_p.P10R|INTS7_ENST00000469606.1_5'Flank|DTL_ENST00000475419.1_3'UTR|INTS7_ENST00000366994.3_5'Flank	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					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)		CTCCGCCAGCCCCAGCTTGGC	0.572																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(28-30)cCc>cGc		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							64	57	60					1																	212209261		2203	4300	6503	SO:0001583	missense	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212209261C>G	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.29C>G	1.37:g.212209261C>G	ENSP00000355958:p.Pro10Arg					DTL_ENST00000542077.1_Missense_Mutation_p.P10R|DTL_ENST00000475419.1_3'UTR	p.P10R	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	1	343	+			10					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.29C>G	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417373	0.83449	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71103	-0.5;-0.54	5.63	5.63	0.86233	.	0.118711	0.56097	D	0.000025	T	0.81884	0.4917	M	0.64997	1.995	0.40200	D	0.977506	D;P	0.89917	1.0;0.944	D;P	0.87578	0.998;0.587	T	0.82438	-0.0457	10	0.51188	T	0.08	-13.6374	15.2097	0.73209	0.0:1.0:0.0:0.0	.	10;10	F5GZ90;Q9NZJ0	.;DTL_HUMAN	R	10	ENSP00000355958:P10R;ENSP00000443870:P10R	ENSP00000355958:P10R	P	+	2	0	DTL	210275884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.185000	0.50934	2.652000	0.90054	0.655000	0.94253	CCC		0.572	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		38	97	0	0	0	1	0	38	97					G	212209261	C	G	212209261	3	3	93	1	0	0	0	0	1	0	0	0	4803	623	22	5	31	5	DTL	1	212209261	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	102036361	212209261	37041360	8	33959	218	2									
DTL	51514	broad.mit.edu	37	chr1	212209262	212209262	+	Silent	SNP	C	C	G													aattcggtgctccgccagccCcagcttggcgtcctgagaaa							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209262C>G	ENST00000366991.4	+	1	344	c.30C>G	c.(28-30)ccC>ccG	p.P10P	INTS7_ENST00000440600.2_5'Flank|INTS7_ENST00000366992.3_5'Flank|INTS7_ENST00000366993.3_5'Flank|DTL_ENST00000542077.1_Silent_p.P10P|INTS7_ENST00000469606.1_5'Flank|DTL_ENST00000475419.1_3'UTR|INTS7_ENST00000366994.3_5'Flank	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					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)		TCCGCCAGCCCCAGCTTGGCG	0.572																																						ENST00000366991.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(28-30)ccC>ccG		denticleless E3 ubiquitin protein ligase homolog (Drosophila)							63	57	59					1																	212209262		2203	4300	6503	SO:0001819	synonymous_variant	51514				DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212209262C>G	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.30C>G	1.37:g.212209262C>G						DTL_ENST00000542077.1_Silent_p.P10P|DTL_ENST00000475419.1_3'UTR	p.P10P	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	1	344	+			10					A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Silent	SNP	ENST00000366991.4	37	c.30C>G	CCDS1502.1																																																																																				0.572	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448		38	97	0	0	0	1	0	38	97					G	212209262	C	G	212209262	2	3	93	1	0	0	0	0	0	0	0	1	4803	610	22	5		5	DTL	1	212209262	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	1	212209262	37041359	9	33960	218	2									
ESRRG	2104	broad.mit.edu	37	chr1	216680448	216680448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccatgtgctggccagCttcataatcctgcagcgctt	9	13	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:216680448C>A	ENST00000408911.3	-	7	1363	c.1210G>T	c.(1210-1212)Gct>Tct	p.A404S	ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000391890.3_Missense_Mutation_p.A388S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	404					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)	TGCTGGCCAGCTTCATAATCC	0.498																																						ENST00000391890.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1162-1164)Gct>Tct		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						114	101	106					1																	216680448		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216680448C>A	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.1210G>T	1.37:g.216680448C>A	ENSP00000386171:p.Ala404Ser					ESRRG_ENST00000366937.1_Missense_Mutation_p.A416S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000408911.3_Missense_Mutation_p.A404S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S|ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S	p.A388S	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	9	1679	-			404					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.1162G>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847181	0.32606	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.047654	0.85682	D	0.000000	D	0.91633	0.7356	N	0.12569	0.235	0.80722	D	1	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.15052	0.008;0.012;0.012	D	0.86965	0.2094	10	0.19590	T	0.45	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	342;416;404	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	S	381;381;416;404;381;381;381;381;381;388;342;381;381;381	ENSP00000355225:A381S;ENSP00000355907:A381S;ENSP00000355904:A416S;ENSP00000386171:A404S;ENSP00000352077:A381S;ENSP00000354584:A381S;ENSP00000355905:A381S;ENSP00000353108:A381S;ENSP00000419594:A381S;ENSP00000375761:A388S;ENSP00000418629:A342S;ENSP00000419155:A381S;ENSP00000417374:A381S	ENSP00000346386:A381S	A	-	1	0	ESRRG	214747071	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	4.892000	0.63193	2.656000	0.90262	0.561000	0.74099	GCT		0.498	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		8	439	1	0	0.00307968	1	0.00323064	8	439					A	216680448	C	A	216680448	3	1	93	1	0	0	0	0	1	0	0	0	5280	797	28	3	170	3	ESRRG	1	216680448	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	4471186	216680448	32570173	10	33961											
CHML	1122	broad.mit.edu	37	chr1	241797637	241797637	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgctggaggaactaTcagaatggaagtctgctgat	13	7	3	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:241797637T>C	ENST00000366553.1	-	1	1595	c.1432A>G	c.(1432-1434)Ata>Gta	p.I478V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	478					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)			GGAGGAACTATCAGAATGGAA	0.428																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1432-1434)Ata>Gta		choroideremia-like (Rab escort protein 2)							96	94	94					1																	241797637		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797637T>C	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.1432A>G	1.37:g.241797637T>C	ENSP00000355511:p.Ile478Val					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	p.I478V	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1595	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	478					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1432A>G	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	6.570	0.473395	0.12461	.	.	ENSG00000203668	ENST00000366553	D	0.82167	-1.58	5.08	0.907	0.19321	.	0.297564	0.35013	N	0.003520	T	0.66954	0.2842	.	.	.	0.21147	N	0.999771	B	0.02656	0.0	B	0.09377	0.004	T	0.53236	-0.8467	9	0.42905	T	0.14	-1.3604	0.6338	0.00799	0.164:0.2371:0.1696:0.4293	.	478	P26374	RAE2_HUMAN	V	478	ENSP00000355511:I478V	ENSP00000355511:I478V	I	-	1	0	CHML	239864260	0.971000	0.33674	0.988000	0.46212	0.919000	0.55068	1.313000	0.33585	0.059000	0.16252	-0.313000	0.08912	ATA		0.428	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		31	386	0	0	0	1	0	31	386					C	241797637	T	C	241797637	3	2	93	1	0	0	0	0	1	0	0	0	3360	1435	50	4	542	4	CHML	1	241797637	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	25117189	241797637	7452984	11	33962											
OR2G2	81470	broad.mit.edu	37	chr1	247752184	247752184	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agctgcccttctgtgggcatCgccaagtggatcatttcatc	10	12	3	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:247752184C>T	ENST00000320065.1	+	1	523	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	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	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R175C(1)		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)			CTGTGGGCATCGCCAAGTGGA	0.557																																						ENST00000320065.1																			1	Substitution - Missense(1)	p.R175C(1)	large_intestine(1)	endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(523-525)Cgc>Tgc		olfactory receptor, family 2, subfamily G, member 2							184	171	175					1																	247752184		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752184C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.523C>T	1.37:g.247752184C>T	ENSP00000326349:p.Arg175Cys					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.R175C	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	523	+	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)		175					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.523C>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563482	0.45694	.	.	ENSG00000177489	ENST00000320065	T	0.00137	8.68	4.29	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.910260	0.08981	U	0.865762	T	0.00384	0.0012	M	0.80616	2.505	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.49872	-0.8893	10	0.54805	T	0.06	.	3.3058	0.07000	0.2201:0.5548:0.0:0.2251	.	175	Q8NGZ5	OR2G2_HUMAN	C	175	ENSP00000326349:R175C	ENSP00000326349:R175C	R	+	1	0	OR2G2	245818807	0.025000	0.19082	0.764000	0.31436	0.987000	0.75469	2.319000	0.43788	1.013000	0.39391	0.591000	0.81541	CGC		0.557	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			5	393	0	0	0	1	0	5	393					T	247752184	C	T	247752184	3	4	93	1	0	0	0	0	1	0	0	0	11040	884	31	1	525	1	OR2G2	1	247752184	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	5954547	247752184	1498437	12	33963											
TACR1	6869	broad.mit.edu	37	chr2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcatggagtagatactggCgaagacagcggcgatgggaa	16	7	1	2	rs199510054		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	118					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498																																					Pancreas(64;62 1268 3653 14826 43765)	ENST00000305249.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24						c.(352-354)Gcc>Acc		tachykinin receptor 1	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						121	112	115					2																	75425709		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425709C>T	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.352G>A	2.37:g.75425709C>T	ENSP00000303522:p.Ala118Thr					TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN			1	1117	-			118					A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.352G>A	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC		0.498	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058		8	351	0	0	0	1	0	8	351					T	75425709	C	T	75425709	3	4	93	1	0	0	0	0	1	0	0	0	15557	768	27	1	895	1	TACR1	2	75425709	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		75425709	167773664	13	33964											
ANKRD36	375248	broad.mit.edu	37	chr2	97849220	97849220	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagaaacaatcggcctGgaaggtagttactctttcat	8	10	3	1	rs182919093	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:97849220G>A	ENST00000461153.2	+	27	2106	c.1862G>A	c.(1861-1863)tGg>tAg	p.W621*	ANKRD36_ENST00000420699.2_Nonsense_Mutation_p.W621*			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	621										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAATCGGCCTGGAAGGTAGTT	0.289													.|||	3	0.000599042	0.0023	0.0	5008	,	,		18254	0.0		0.0	False		,,,				2504	0.0					ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(1861-1863)tGg>tAg		ankyrin repeat domain 36																																				SO:0001587	stop_gained	375248							g.chr2:97849220G>A	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.1862G>A	2.37:g.97849220G>A	ENSP00000419530:p.Trp621*					ANKRD36_ENST00000461153.2_Nonsense_Mutation_p.W621*	p.W621*	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			27	2106	+			621					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Nonsense_Mutation	SNP	ENST00000461153.2	37	c.1862G>A	CCDS54379.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	23.6	4.433294	0.83776	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	.	.	.	1.08	-0.315	0.12746	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.8432	0.08923	0.0:0.0:0.4118:0.5882	.	.	.	.	X	621	.	ENSP00000391950:W621X	W	+	2	0	ANKRD36	97212947	0.266000	0.24112	0.075000	0.20258	0.044000	0.14063	-0.052000	0.11865	-0.097000	0.12307	0.184000	0.17185	TGG		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			11	34	0	0	0	1	0	11	34					A	97849220	G	A	97849220	4	1	93	1	0	0	0	0	0	1	0	0	665	1357	47	2	1968	2	ANKRD36	2	97849220	Nonsense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	22423511	97849220	145350153	14	33965											
INHBB	3625	broad.mit.edu	37	chr2	121106818	121106818	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcagccggcggaaggtgCgggtcaaagtgtacttccag	17	9	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:121106818C>T	ENST00000295228.3	+	2	638	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	198					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)				GCGGAAGGTGCGGGTCAAAGT	0.602																																						ENST00000295228.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15						c.(592-594)Cgg>Tgg		inhibin, beta B							79	76	77					2																	121106818		2203	4300	6503	SO:0001583	missense	3625				activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	g.chr2:121106818C>T		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.592C>T	2.37:g.121106818C>T	ENSP00000295228:p.Arg198Trp						p.R198W	NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN			2	638	+		Prostate(154;0.122)	198					Q53T31|Q8N1D3	Missense_Mutation	SNP	ENST00000295228.3	37	c.592C>T	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385211	0.61956	.	.	ENSG00000163083	ENST00000295228	T	0.70399	-0.48	4.94	4.94	0.65067	Transforming growth factor-beta, N-terminal (1);	0.087418	0.45867	D	0.000321	T	0.77572	0.4150	L	0.51422	1.61	0.39241	D	0.963859	D	0.76494	0.999	D	0.66979	0.948	T	0.79524	-0.1768	10	0.66056	D	0.02	-6.5689	10.9786	0.47480	0.2877:0.7123:0.0:0.0	.	198	P09529	INHBB_HUMAN	W	198	ENSP00000295228:R198W	ENSP00000295228:R198W	R	+	1	2	INHBB	120823288	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.378000	0.66190	2.728000	0.93425	0.655000	0.94253	CGG		0.602	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			5	274	0	0	0	1	0	5	274					T	121106818	C	T	121106818	3	4	93	1	0	0	0	0	1	0	0	0	7772	759	27	1	598	1	INHBB	2	121106818	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	23257598	121106818	122092555	15	33966											
AMMECR1L	83607	broad.mit.edu	37	chr2	128627077	128627077	+	Frame_Shift_Del	DEL	T	T	-													gtggctgtgcgtttgacaccTttttcattaatgaattcaat							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:128627077delT	ENST00000272647.5	-	6	935	c.675delA	c.(673-675)aaafs	p.K225fs	AMMECR1L_ENST00000393001.1_Frame_Shift_Del_p.K225fs	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	225	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)		GTTTGACACCTTTTTCATTAA	0.388																																						ENST00000272647.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(673-675)aafs		AMMECR1-like							150	133	139					2																	128627077		2203	4300	6503	SO:0001589	frameshift_variant	83607							g.chr2:128627077delT		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.675delA	2.37:g.128627077delT	ENSP00000272647:p.Lys225fs					AMMECR1L_ENST00000393001.1_Frame_Shift_Del_p.K225fs	p.K225fs	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.07)	6	935	-	Colorectal(110;0.1)		225			AMMECR1.		B4E276	Frame_Shift_Del	DEL	ENST00000272647.5	37	c.675delA	CCDS2152.1																																																																																				0.388	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254392.1	NM_031445		7	366						7	366	---	---	---	---	-	128627077	T	-	128627077	7	5	93	1	0	1	0	1	0	0	0	0	579	1606	56	0	269	0	AMMECR1L	2	128627077	Frame_Shift_Del	DEL	T	TCGA-IB-AAUN-01A-12D-A38G-08	7520259	128627077	114572296	16	33967											
ALS2	57679	broad.mit.edu	37	chr2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaccatgaccatgacGcatattatcttgaaaacagc	7	9	1	5	rs149670991		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:202589136G>A	ENST00000264276.6	-	21	3766	c.3394C>T	c.(3394-3396)Cgt>Tgt	p.R1132C	ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1132					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						TGACCATGACGCATATTATCT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18074	0.0		0.0	False		,,,				2504	0.0					ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3394-3396)Cgt>Tgt		amyotrophic lateral sclerosis 2 (juvenile)							186	164	171					2																	202589136		1901	4131	6032	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202589136G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3394C>T	2.37:g.202589136G>A	ENSP00000264276:p.Arg1132Cys					ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	p.R1132C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			21	3766	-			1132					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.3394C>T	CCDS42800.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.0	4.792192	0.90453	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.50001	0.76;0.76	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71609	-0.4541	10	0.66056	D	0.02	.	15.0971	0.72244	0.0:0.0:0.8584:0.1416	.	1132;1132	Q6IQ41;Q96Q42	.;ALS2_HUMAN	C	1132;444	ENSP00000264276:R1132C;ENSP00000394823:R444C	ENSP00000264276:R1132C	R	-	1	0	ALS2	202297381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.305000	0.72805	2.805000	0.96524	0.655000	0.94253	CGT		0.413	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		6	535	0	0	0	1	0	6	535					A	202589136	G	A	202589136	3	1	93	1	0	0	0	0	1	0	0	0	550	1087	38	1	1635	1	ALS2	2	202589136	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	73962059	202589136	40610237	17	33968											
SAG	6295	broad.mit.edu	37	chr2	234238171	234238171	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcccatccctgtgacCgtgactgtcaccaataacac	10	14	1	2	rs369174962	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:234238171C>A	ENST00000409110.1	+	9	911	c.681C>A	c.(679-681)acC>acA	p.T227T	SAG_ENST00000449594.2_Silent_p.T93T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	227					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCTGTGACCGTGACTGTCA	0.438																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(679-681)acC>acA		S-antigen; retina and pineal gland (arrestin)							89	89	89					2																	234238171		1896	4121	6017	SO:0001819	synonymous_variant	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234238171C>A		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.681C>A	2.37:g.234238171C>A						SAG_ENST00000449594.2_Silent_p.T93T	p.T227T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	9	911	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	227					A0FDN6|Q53SV3|Q99858	Silent	SNP	ENST00000409110.1	37	c.681C>A	CCDS46545.1																																																																																				0.438	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		4	144	1	0	0.00909568	1	0.00944891	4	144					A	234238171	C	A	234238171	2	1	93	1	0	0	0	0	0	0	0	1	13858	639	23	3		3	SAG	2	234238171	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	31649035	234238171	8961202	18	33969											
FNDC3B	64778	broad.mit.edu	37	chr3	172096148	172096148	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actccttcagaatccaggcaGcaagcgaggctggagaaggg	14	10	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr3:172096148G>A	ENST00000336824.4	+	24	3196	c.3097G>A	c.(3097-3099)Gca>Aca	p.A1033T	FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T|FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1033	Fibronectin type-III 8. {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)		AATCCAGGCAGCAAGCGAGGC	0.483																																						ENST00000336824.4																			0				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						c.(3097-3099)Gca>Aca		fibronectin type III domain containing 3B							88	87	87					3																	172096148		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172096148G>A	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.3097G>A	3.37:g.172096148G>A	ENSP00000338523:p.Ala1033Thr					FNDC3B_ENST00000415807.2_Missense_Mutation_p.A1033T|FNDC3B_ENST00000416957.1_Missense_Mutation_p.A1033T	p.A1033T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	24	3196	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		1033			Fibronectin type-III 8.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.3097G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830279	0.50845	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57273	0.41;0.41;0.41	5.26	4.37	0.52481	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215889	0.47852	N	0.000204	T	0.27629	0.0679	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05241	-1.0897	10	0.23302	T	0.38	-5.2768	12.8682	0.57951	0.0801:0.0:0.9199:0.0	.	1033	Q53EP0	FND3B_HUMAN	T	1033	ENSP00000411242:A1033T;ENSP00000338523:A1033T;ENSP00000389094:A1033T	ENSP00000338523:A1033T	A	+	1	0	FNDC3B	173578842	0.862000	0.29867	0.667000	0.29798	0.980000	0.70556	1.874000	0.39568	1.183000	0.42943	0.655000	0.94253	GCA		0.483	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		4	221	0	0	0	1	0	4	221					A	172096148	G	A	172096148	3	1	93	1	0	0	0	0	1	0	0	0	5995	971	34	2	3187	2	FNDC3B	3	172096148	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		172096148	25926282	19	33970											
UGT8	7368	broad.mit.edu	37	chr4	115597336	115597336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagaaaaatcaaaagtctGtggtctagaaataagcatag	8	5	3	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:115597336G>A	ENST00000310836.6	+	6	2040	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	UGT8_ENST00000394511.3_Silent_p.L506L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	506					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TCAAAAGTCTGTGGTCTAGAA	0.353																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1516-1518)ctG>ctA		UDP glycosyltransferase 8							84	78	80					4																	115597336		2203	4300	6503	SO:0001819	synonymous_variant	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115597336G>A	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1518G>A	4.37:g.115597336G>A						UGT8_ENST00000394511.3_Silent_p.L506L	p.L506L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	6	2040	+		Ovarian(17;0.156)	506					B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	c.1518G>A	CCDS3705.1																																																																																				0.353	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		64	302	0	0	0	1	0	64	302					A	115597336	G	A	115597336	2	1	93	1	0	0	0	0	0	0	0	1	17019	1364	48	2		2	UGT8	4	115597336	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		115597336	75556940	20	33971											
FAT4	79633	broad.mit.edu	37	chr4	126372375	126372375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgatgcaaatgacccaCccatttttactctaaacatc	4	12	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:126372375C>T	ENST00000394329.3	+	9	10217	c.10204C>T	c.(10204-10206)Ccc>Tcc	p.P3402S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32. {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						AAATGACCCACCCATTTTTAC	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10204-10206)Ccc>Tcc		FAT atypical cadherin 4							185	176	179					4																	126372375		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372375C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10204C>T	4.37:g.126372375C>T	ENSP00000377862:p.Pro3402Ser					FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	p.P3402S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	10217	+			3402			Cadherin 32.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.10204C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665933	0.67700	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.84800	-1.9;-1.9	5.14	5.14	0.70334	Cadherin (3);Cadherin-like (1);	0.000000	0.34362	U	0.004026	D	0.95500	0.8538	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.97;0.998	D	0.97250	0.9897	10	0.87932	D	0	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	1700;3402;3402	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3402;1700	ENSP00000377862:P3402S;ENSP00000335169:P1700S	ENSP00000335169:P1700S	P	+	1	0	FAT4	126591825	1.000000	0.71417	0.944000	0.38274	0.741000	0.42261	7.662000	0.83803	2.392000	0.81423	0.561000	0.74099	CCC		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		12	616	0	0	0	1	0	12	616					T	126372375	C	T	126372375	3	4	93	1	0	0	0	0	1	0	0	0	5717	507	18	2	10238	2	FAT4	4	126372375	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	10775039	126372375	64781901	21	33972											
SLC12A7	10723	broad.mit.edu	37	chr5	1064314	1064314	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttgcggaaacgagtcgaCgttcttggccaccagcagag	13	10	1	1	rs188889163	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:1064314C>T	ENST00000264930.5	-	19	2534	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	831					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)	AACGAGTCGACGTTCTTGGCC	0.677													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13721	0.001		0.0	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2491-2493)Gtc>Atc		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	C	ILE/VAL	1,4387	2.1+/-5.4	0,1,2193	37	40	39		2491	-0.3	1	5		39	0,8596		0,0,4298	no	missense	SLC12A7	NM_006598.2	29	0,1,6491	TT,TC,CC		0.0,0.0228,0.0077	benign	831/1084	1064314	1,12983	2194	4298	6492	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1064314C>T	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.2491G>A	5.37:g.1064314C>T	ENSP00000264930:p.Val831Ile						p.V831I	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		19	2534	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		831					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2491G>A	CCDS34129.1	2|2	9.157509157509158E-4|9.157509157509158E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	0.018|0.018	-1.479004|-1.479004	0.01035|0.01035	2.28E-4|2.28E-4	0.0|0.0	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.86432	.|-2.12	4.26|4.26	-0.302|-0.302	0.12796|0.12796	.|.	.|0.562347	.|0.17891	.|N	.|0.158521	T|T	0.61324|0.61324	0.2338|0.2338	N|N	0.02286|0.02286	-0.61|-0.61	0.28050|0.28050	N|N	0.933393|0.933393	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.55885|0.55885	-0.8070|-0.8070	5|10	.|0.02654	.|T	.|1	.|.	7.5601|7.5601	0.27847|0.27847	0.0:0.37:0.0:0.63|0.0:0.37:0.0:0.63	.|.	.|831	.|Q9Y666	.|S12A7_HUMAN	H|I	188|831	.|ENSP00000264930:V831I	.|ENSP00000264930:V831I	R|V	-|-	2|1	0|0	SLC12A7|SLC12A7	1117314|1117314	0.943000|0.943000	0.32029|0.32029	0.959000|0.959000	0.39883|0.39883	0.022000|0.022000	0.10575|0.10575	0.148000|0.148000	0.16224|0.16224	0.072000|0.072000	0.16694|0.16694	-0.657000|-0.657000	0.03884|0.03884	CGT|GTC		0.677	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		41	111	0	0	0	1	0	41	111					T	1064314	C	T	1064314	3	4	93	1	0	0	0	0	1	0	0	0	14438	536	19	1	784	1	SLC12A7	5	1064314	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		1064314	179850946	22	33973											
SEPP1	100129792	broad.mit.edu	37	chr5	42800957	42800959	+	3'UTR	DEL	CTC	CTC	-													tgacaagattcagttatgttCtcctctgcccgaagtccctg							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:42800957_42800959delCTC	ENST00000361970.5	+	0	1926_1928				SEPP1_ENST00000509276.1_5'Flank|SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del|SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000514985.1_In_Frame_Del_p.E337del	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						CAGTTATGTTCTCCTCTGCCCGA	0.458																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(1009-1011)del		selenoprotein P, plasma, 1																																				SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42800957_42800959delCTC		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1076CTC>-	5.37:g.42800960_42800962delCTC						SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR	p.E337del	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	1265_1267	-			337					B3KXI4|B4E0P7|Q5BLP6	In_Frame_Del	DEL	ENST00000361970.5	37	c.1009_1011delGAG	CCDS47203.1																																																																																				0.458	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		92	187						92	187	---	---	---	---	-	42800959	CTC	-	42800957	6	5	93	0	1	1	0	1	0	0	0	0	14107	912	32	0		0	SEPP1	5	42800957	3'UTR	DEL	CTC	TCGA-IB-AAUN-01A-12D-A38G-08	41736643	42800957	138114303	23	33974											
ITGA2	3673	broad.mit.edu	37	chr5	52360796	52360796	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgagggcattgaaaacactCgatttggttcagcaattgca	10	9	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:52360796C>T	ENST00000296585.5	+	14	1800	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					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)				TGAAAACACTCGATTTGGTTC	0.423																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1657-1659)Cga>Tga		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							150	148	149					5																	52360796		2203	4300	6503	SO:0001587	stop_gained	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360796C>T		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.1657C>T	5.37:g.52360796C>T	ENSP00000296585:p.Arg553*						p.R553*	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			14	1800	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	553					Q14595	Nonsense_Mutation	SNP	ENST00000296585.5	37	c.1657C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	38	6.920610	0.97936	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.67	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0088	0.71533	0.3736:0.6264:0.0:0.0	.	.	.	.	X	553	.	ENSP00000296585:R553X	R	+	1	2	ITGA2	52396553	0.972000	0.33761	0.988000	0.46212	0.995000	0.86356	2.181000	0.42547	0.371000	0.24564	0.655000	0.94253	CGA		0.423	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		135	401	0	0	0	1	0	135	401					T	52360796	C	T	52360796	4	4	93	1	0	0	0	0	0	1	0	0	7905	876	31	1	1711	1	ITGA2	5	52360796	Nonsense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	9559839	52360796	128554464	24	33975											
PCDHA1	56147	broad.mit.edu	37	chr5	140167552	140167552	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcgtgctggacgagaaCgacaacgcgccggcgctgct	15	12	0	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140167552C>T	ENST00000504120.2	+	1	1677	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.N559N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAGAACGACAACGCGC	0.672																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1675-1677)aaC>aaT									86	87	87					5																	140167552		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140167552C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1677C>T	5.37:g.140167552C>T						PCDHA1_ENST00000378133.3_Silent_p.N559N|PCDHA1_ENST00000394633.3_Intron	p.N559N	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1677	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1677C>T	CCDS54913.1																																																																																				0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		147	403	0	0	0	1	0	147	403					T	140167552	C	T	140167552	2	4	93	1	0	0	0	0	0	0	0	1	11561	535	19	1		1	PCDHA1	5	140167552	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	87806756	140167552	40747708	25	33976											
PCDHB3	56132	broad.mit.edu	37	chr5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	17	11	1	0	rs144773246	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													C|||	5	0.000998403	0.0	0.0014	5008	,	,		16392	0.002		0.0	False		,,,				2504	0.002					ENST00000231130.2																			1	Substitution - Missense(1)	p.H638Q(1)	lung(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1912-1914)caC>caG				C	GLN/HIS	8,3686		0,8,1839	21	23	22		1914	-2.8	0.8	5	dbSNP_134	22	0,7422		0,0,3711	no	missense	PCDHB3	NM_018937.2	24	0,8,5550	GG,GC,CC		0.0,0.2166,0.072	benign	638/797	140482147	8,11108	1847	3711	5558	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482147C>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1914C>G	5.37:g.140482147C>G	ENSP00000231130:p.His638Gln						p.H638Q	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1914	+			638			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1914C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798298	0.02841	0.002166	0.0	ENSG00000113205	ENST00000231130	T	0.52526	0.66	4.38	-2.84	0.05751	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20618	0.0496	N	0.10760	0.04	0.23555	N	0.997428	B	0.26672	0.156	B	0.30943	0.122	T	0.32903	-0.9889	9	0.02654	T	1	.	7.9075	0.29771	0.1045:0.1872:0.6227:0.0856	.	638	Q9Y5E6	PCDB3_HUMAN	Q	638	ENSP00000231130:H638Q	ENSP00000231130:H638Q	H	+	3	2	PCDHB3	140462331	0.000000	0.05858	0.777000	0.31699	0.880000	0.50808	-0.407000	0.07178	-0.244000	0.09639	0.556000	0.70494	CAC		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		5	411	0	0	0	1	0	5	411					G	140482147	C	G	140482147	3	3	93	1	0	0	0	0	1	0	0	0	11585	477	17	5	1916	5	PCDHB3	5	140482147	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	314595	140482147	40433113	26	33977											
TIGD6	81789	broad.mit.edu	37	chr5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-													atgttggccaagtttagtgcTtttttccgaatgacagaacc							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					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)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169	167	168					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	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.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		8	1358						8	1358	---	---	---	---	-	149375600	T	-	149375600	7	5	93	1	0	1	0	1	0	0	0	0	15952	1606	56	0	1257	0	TIGD6	5	149375600	Frame_Shift_Del	DEL	T	TCGA-IB-AAUN-01A-12D-A38G-08	8893453	149375600	31539660	27	33978											
FGF18	8817	broad.mit.edu	37	chr5	170876235	170876235	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctacctgtgcatgaaccGcaaaggcaagctcgtgggga	12	10	1	1	rs201988531		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:170876235G>A	ENST00000274625.5	+	4	879	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	112					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)			TGCATGAACCGCAAAGGCAAG	0.567													g|||	1	0.000199681	0.0	0.0	5008	,	,		16702	0.0		0.001	False		,,,				2504	0.0					ENST00000274625.5																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(334-336)cGc>cAc		fibroblast growth factor 18							112	89	97					5																	170876235		2203	4300	6503	SO:0001583	missense	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170876235G>A	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.335G>A	5.37:g.170876235G>A	ENSP00000274625:p.Arg112His						p.R112H	NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	879	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	112					D3DQL7|Q6UWF1	Missense_Mutation	SNP	ENST00000274625.5	37	c.335G>A	CCDS4378.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	21.3	4.124259	0.77436	.	.	ENSG00000156427	ENST00000274625	D	0.89343	-2.5	4.08	3.19	0.36642	.	0.556585	0.16736	U	0.201631	D	0.90769	0.7102	M	0.77820	2.39	0.25546	N	0.987134	D	0.55605	0.972	P	0.53809	0.735	T	0.83312	-0.0022	10	0.72032	D	0.01	-2.8976	6.6409	0.22909	0.0934:0.0:0.7276:0.1789	.	112	O76093	FGF18_HUMAN	H	112	ENSP00000274625:R112H	ENSP00000274625:R112H	R	+	2	0	FGF18	170808840	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.443000	0.59994	0.688000	0.31529	0.450000	0.29827	CGC		0.567	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		5	287	0	0	0	1	0	5	287					A	170876235	G	A	170876235	3	1	93	1	0	0	0	0	1	0	0	0	5871	1087	38	1	349	1	FGF18	5	170876235	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	21500635	170876235	10039025	28	33979											
MAPK13	5603	broad.mit.edu	37	chr6	36106684	36106684	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagaagatgctggaGctagacgtggacaagcgcct	15	9	0	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:36106684G>C	ENST00000211287.4	+	11	1132	c.870G>C	c.(868-870)gaG>gaC	p.E290D	MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373759.1_3'UTR|Z95152.1_ENST00000408816.1_RNA|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 production (GO:0032755)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGATGCTGGAGCTAGACGTGG	0.667																																						ENST00000211287.4																			0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						c.(868-870)gaG>gaC		mitogen-activated protein kinase 13							43	46	45					6																	36106684		2203	4300	6503	SO:0001583	missense	5603				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding	g.chr6:36106684G>C	Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6875	protein-coding gene	gene with protein product		602899		PRKM13		9295308, 9218798	Standard	NM_002754		Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.870G>C	6.37:g.36106684G>C	ENSP00000211287:p.Glu290Asp					MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D|MAPK13_ENST00000373759.1_3'UTR	p.E290D	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN			11	1132	+			290			Protein kinase.		O14739|O15124|Q5U4A5|Q6FI46|Q9UNU0	Missense_Mutation	SNP	ENST00000211287.4	37	c.870G>C	CCDS4818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.143296|2.143296	0.37825|0.37825	.|.	.|.	ENSG00000156711|ENSG00000156711	ENST00000373766|ENST00000373761;ENST00000211287;ENST00000373770	T|T;T	0.66995|0.65364	-0.24|-0.15;-0.15	5.25|5.25	3.47|3.47	0.39725|0.39725	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.105229	.|0.41605	.|D	.|0.000844	T|T	0.29684|0.29684	0.0741|0.0741	L|L	0.33245|0.33245	0.995|0.995	0.23632|0.23632	N|N	0.997245|0.997245	.|B	.|0.09022	.|0.002	.|B	.|0.09377	.|0.004	T|T	0.21827|0.21827	-1.0234|-1.0234	7|10	0.72032|0.42905	D|T	0.01|0.14	-45.63|-45.63	11.297|11.297	0.49284|0.49284	0.1481:0.0:0.8519:0.0|0.1481:0.0:0.8519:0.0	.|.	.|290	.|O15264	.|MK13_HUMAN	P|D	240|280;290;235	ENSP00000362871:A240P|ENSP00000362866:E280D;ENSP00000211287:E290D	ENSP00000362871:A240P|ENSP00000211287:E290D	A|E	+|+	1|3	0|2	MAPK13|MAPK13	36214662|36214662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	1.350000|1.350000	0.34010|0.34010	0.605000|0.605000	0.29947|0.29947	0.484000|0.484000	0.47621|0.47621	GCT|GAG		0.667	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1			45	111	0	0	0	1	0	45	111					C	36106684	G	C	36106684	3	2	93	1	0	0	0	0	1	0	0	0	9316	962	34	5	912	5	MAPK13	6	36106684	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		36106684	135008383	29	33980											
AARS2	57505	broad.mit.edu	37	chr6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T													ccgctccagcagctcctgagINSttttctttgcagcctatggg							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	AARS2_ENST00000491573.1_5'Flank|TMEM151B_ENST00000438774.2_Intron|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)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	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.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		7	566						7	566	---	---	---	---	T	44269189	-	T	44269188	7	5	93	1	0	1	1	0	0	0	0	0	20	1029	36	0	357	0	AARS2	6	44269188	Frame_Shift_Ins	INS	-	TCGA-IB-AAUN-01A-12D-A38G-08	8162504	44269188	126845879	30	33981											
HOXA3	3200	broad.mit.edu	37	chr7	27148046	27148046	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catagagttcagatagccacCggctccggggggcacggggc	16	12	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:27148046C>T	ENST00000396352.4	-	3	1019	c.820G>A	c.(820-822)Ggt>Agt	p.G274S	HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	274					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGATAGCCACCGGCTCCGGGG	0.627																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(820-822)Ggt>Agt		homeobox A3							86	88	88					7																	27148046		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148046C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.820G>A	7.37:g.27148046C>T	ENSP00000379640:p.Gly274Ser					HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S	p.G274S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN			3	1019	-			274					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.820G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340433	0.41498	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86297	-2.1;-2.1	5.41	5.41	0.78517	.	0.047410	0.85682	D	0.000000	D	0.91955	0.7452	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90337	0.4356	10	0.33940	T	0.23	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	274	O43365	HXA3_HUMAN	S	274;274;116	ENSP00000379640:G274S;ENSP00000324884:G274S	ENSP00000324884:G274S	G	-	1	0	HOXA3	27114571	1.000000	0.71417	0.432000	0.26747	0.546000	0.35178	6.089000	0.71384	2.539000	0.85634	0.655000	0.94253	GGT		0.627	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			82	278	0	0	0	1	0	82	278					T	27148046	C	T	27148046	3	4	93	1	0	0	0	0	1	0	0	0	7323	652	23	1	515	1	HOXA3	7	27148046	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		27148046	131990617	31	33982											
SCARA5	286133	broad.mit.edu	37	chr8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccgcggaagccgagcatgCggcacaccacgtctccgtcc	11	18	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	432	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642																																						ENST00000354914.3																			0				central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18						c.(1294-1296)cGc>cAc		scavenger receptor class A, member 5 (putative)							156	121	133					8																	27737142		2203	4300	6503	SO:0001583	missense	286133				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	g.chr8:27737142C>T	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1295G>A	8.37:g.27737142C>T	ENSP00000346990:p.Arg432His					SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	p.R432H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)	8	1780	-		Ovarian(32;0.0218)	432			SRCR.		Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	37	c.1295G>A	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480662	0.63849	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.42900	0.96;0.96	4.87	3.99	0.46301	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.063343	0.64402	N	0.000010	T	0.48804	0.1520	M	0.88241	2.94	0.80722	D	1	B;B	0.25206	0.012;0.12	B;B	0.19946	0.008;0.027	T	0.54417	-0.8297	10	0.66056	D	0.02	.	11.0431	0.47842	0.0:0.907:0.0:0.093	.	207;432	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	432;207	ENSP00000346990:R432H;ENSP00000369746:R207H	ENSP00000346990:R432H	R	-	2	0	SCARA5	27793061	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.882000	0.63121	1.170000	0.42753	0.591000	0.81541	CGC		0.642	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833		5	276	0	0	0	1	0	5	276					T	27737142	C	T	27737142	3	4	93	1	0	0	0	0	1	0	0	0	13930	768	27	1	200	1	SCARA5	8	27737142	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		27737142	118626880	32	33983											
UNC5D	137970	broad.mit.edu	37	chr8	35608224	35608224	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccaatcacagactgtgCcgtgaagcaactgaaggtgg	13	9	1	4			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:35608224C>T	ENST00000404895.2	+	13	2388	c.2060C>T	c.(2059-2061)gCc>gTc	p.A687V	UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V|UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000287272.2_Missense_Mutation_p.A618V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	687					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)		p.A682V(1)		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)		ACAGACTGTGCCGTGAAGCAA	0.502																																						ENST00000287272.2																			1	Substitution - Missense(1)	p.A682V(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1852-1854)gCc>gTc		unc-5 homolog D (C. elegans)							253	210	225					8																	35608224		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608224C>T	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.2060C>T	8.37:g.35608224C>T	ENSP00000385143:p.Ala687Val					UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000404895.2_Missense_Mutation_p.A687V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V	p.A618V			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1873	+			687			ZU5.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1853C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	35	5.426783	0.96131	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.60299	0.23;0.64;0.63;0.23;0.2;2.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.83483	2.645	0.80722	D	1	D;P;P	0.56035	0.974;0.911;0.914	P;P;B	0.50490	0.638;0.642;0.439	T	0.76817	-0.2819	10	0.87932	D	0	-23.3889	20.2822	0.98520	0.0:1.0:0.0:0.0	.	263;682;687	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	687;620;618;692;682;263	ENSP00000385143:A687V;ENSP00000392739:A620V;ENSP00000287272:A618V;ENSP00000412652:A692V;ENSP00000394303:A682V;ENSP00000397211:A263V	ENSP00000287272:A618V	A	+	2	0	UNC5D	35727766	1.000000	0.71417	0.987000	0.45799	0.959000	0.62525	5.359000	0.66074	2.806000	0.96561	0.655000	0.94253	GCC		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			5	397	0	0	0	1	0	5	397					T	35608224	C	T	35608224	3	4	93	1	0	0	0	0	1	0	0	0	17049	739	26	2	2110	2	UNC5D	8	35608224	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	7871082	35608224	110755798	33	33984											
EBAG9	9166	broad.mit.edu	37	chr8	110573115	110573117	+	In_Frame_Del	DEL	GAA	GAA	-													aggaaaataccaatgcatggGaagaagaagaagatgcagcc							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:110573115_110573117delGAA	ENST00000337573.5	+	6	778_780	c.478_480delGAA	c.(478-480)gaadel	p.E163del	EBAG9_ENST00000531677.1_In_Frame_Del_p.E163del|EBAG9_ENST00000395785.2_In_Frame_Del_p.E163del	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	163	Poly-Glu.				regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CAATGCATGGGAAGAAGAAGAAG	0.394																																						ENST00000337573.5																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10						c.(478-480)del		estrogen receptor binding site associated, antigen, 9			,	12,4252		1,10,2121					,	5.3	1			104	29,8225		0,29,4098	no	coding,coding	EBAG9	NM_198120.1,NM_004215.3	,	1,39,6219	A1A1,A1R,RR		0.3513,0.2814,0.3275	,	,		41,12477				SO:0001651	inframe_deletion	9166				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	g.chr8:110573115_110573117delGAA	AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.478_480delGAA	8.37:g.110573124_110573126delGAA	ENSP00000337675:p.Glu163del					EBAG9_ENST00000531677.1_In_Frame_Del_p.E163del|EBAG9_ENST00000395785.2_In_Frame_Del_p.E163del	p.E163del	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		6	778_780	+			163			Poly-Glu.		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	In_Frame_Del	DEL	ENST00000337573.5	37	c.478_480delGAA	CCDS6313.1																																																																																				0.394	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215		7	227						7	227	---	---	---	---	-	110573117	GAA	-	110573115	7	5	93	1	0	1	0	1	0	0	0	0	4895	1175	41	0	496	0	EBAG9	8	110573115	In_Frame_Del	DEL	GAA	TCGA-IB-AAUN-01A-12D-A38G-08	74964891	110573115	35790907	34	33985											
KCNQ3	3786	broad.mit.edu	37	chr8	133141815	133141815	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccggggggagattcggtcCgagtaggggccctgcaggtc	19	10	0	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:133141815C>T	ENST00000388996.4	-	15	2733	c.2313G>A	c.(2311-2313)tcG>tcA	p.S771S	KCNQ3_ENST00000521134.1_Silent_p.S651S|KCNQ3_ENST00000519445.1_Silent_p.S759S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	771					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)	AGATTCGGTCCGAGTAGGGGC	0.607																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2311-2313)tcG>tcA		potassium voltage-gated channel, KQT-like subfamily, member 3							45	45	45					8																	133141815		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141815C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2313G>A	8.37:g.133141815C>T						KCNQ3_ENST00000521134.1_Silent_p.S651S|KCNQ3_ENST00000519445.1_Silent_p.S759S	p.S771S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2733	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		771					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.2313G>A	CCDS34943.1																																																																																				0.607	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		5	182	0	0	0	1	0	5	182					T	133141815	C	T	133141815	2	4	93	1	0	0	0	0	0	0	0	1	8114	639	23	1		1	KCNQ3	8	133141815	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	22568700	133141815	13222207	35	33986											
C8orf73	642475	broad.mit.edu	37	chr8	144654809	144654809	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgcctggcccggattccttCagtcagtgctgtcagggtta	12	12	3	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:144654809C>A	ENST00000398882.3	-	1	332	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	26																	CGGATTCCTTCAGTCAGTGCT	0.706																																						ENST00000398882.3																			0											c.(76-78)Gaa>Taa		maestro heat-like repeat family member 6							9	11	10					8																	144654809		1859	4086	5945	SO:0001587	stop_gained	642475							g.chr8:144654809C>A	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.76G>T	8.37:g.144654809C>A	ENSP00000381857:p.Glu26*						p.E26*	NM_001100878.1	NP_001094348.1					1	332	-								A8MWB1	Nonsense_Mutation	SNP	ENST00000398882.3	37	c.76G>T	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	c	22.8	4.339567	0.81911	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.9012	13.0708	0.59059	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000381857:E26X	E	-	1	0	C8orf73	144725952	0.105000	0.21958	0.998000	0.56505	0.327000	0.28475	2.795000	0.47861	2.200000	0.70718	0.558000	0.71614	GAA		0.706	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		3	28	1	0	0.115264	1	0.11746	3	28					A	144654809	C	A	144654809	4	1	93	1	0	0	0	0	0	1	0	0	2442	835	29	3	2139	3	C8orf73	8	144654809	Nonsense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	11512994	144654809	1709213	36	33987											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	4	8	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	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)		GCCACTGCACCTGAAAATATA	0.284																																						ENST00000377447.3																			2	Unknown(2)	p.?(2)	lung(2)	kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.e5-1		COBW domain containing 1							44	70	61					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site				Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	486	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37		CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	6	840	0	0	0	1	0	6	840					G	164038	C	G	164038	5	3	93	1	0	0	0	0	0	0	1	0	2719	695	24	5	801	5	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		164038	141049393	37	33988											
KDM4C	23081	broad.mit.edu	37	chr9	6990510	6990510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcttgtgaagcagcaggCgccaagtgatgaaggtgaga	15	7	1	4	rs151291155		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:6990510C>T	ENST00000381309.3	+	12	2337	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V|KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCAGCAGGCGCCAAGTGAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		13775	0.0		0.001	False		,,,				2504	0.0					ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1771-1773)gCg>gTg		lysine (K)-specific demethylase 4C		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	54	46	49		1772,1772,1838,1772	2.9	0.8	9	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	KDM4C	NM_001146694.1,NM_001146695.1,NM_001146696.1,NM_015061.3	64,64,64,64	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign,benign	591/1048,591/814,613/836,591/1057	6990510	3,13003	2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6990510C>T	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.1772C>T	9.37:g.6990510C>T	ENSP00000370710:p.Ala591Val					KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V|KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V	p.A591V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			12	2337	+			591					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1772C>T	CCDS6471.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.18	2.159146	0.38119	2.27E-4	2.33E-4	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000536108;ENST00000428870	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	4.8	2.93	0.34026	.	0.294931	0.36703	N	0.002452	T	0.31040	0.0784	L	0.35414	1.06	0.44366	D	0.997269	B;B;B;B	0.29627	0.043;0.252;0.026;0.077	B;B;B;B	0.21151	0.012;0.033;0.013;0.024	T	0.06127	-1.0844	10	0.30078	T	0.28	-39.5448	8.6521	0.34040	0.0:0.8202:0.0:0.1798	.	591;613;591;591	F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;KDM4C_HUMAN;.	V	613;591;591;591;410;278	ENSP00000442382:A613V;ENSP00000445427:A591V;ENSP00000370710:A591V;ENSP00000370707:A591V;ENSP00000440656:A410V;ENSP00000405739:A278V	ENSP00000370707:A591V	A	+	2	0	KDM4C	6980510	0.990000	0.36364	0.839000	0.33178	0.756000	0.42949	2.883000	0.48554	0.600000	0.29862	0.557000	0.71058	GCG		0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		43	73	0	0	0	1	0	43	73					T	6990510	C	T	6990510	3	4	93	1	0	0	0	0	1	0	0	0	8160	768	27	1	1884	1	KDM4C	9	6990510	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	6826472	6990510	134222921	38	33989											
MLLT3	4300	broad.mit.edu	37	chr9	20414349	20414349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctactgctGctgctgctgctgctgctgct	12	14	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:20414349G>A	ENST00000380338.4	-	5	781	c.495C>T	c.(493-495)agC>agT	p.S165S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	165	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)		tgctactgctgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(493-495)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8	15	13					9																	20414349		1360	3003	4363	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414349G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.495C>T	9.37:g.20414349G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S162S	p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	781	-			165			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.495C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	262	0	0	0	1	0	5	262					A	20414349	G	A	20414349	2	1	93	1	0	0	0	0	0	0	0	1	9669	1310	46	2		2	MLLT3	9	20414349	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	13423839	20414349	120799082	39	33990											
HABP4	22927	broad.mit.edu	37	chr9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcccgagagggggtatgCgcggcagaggcagaggtggc	22	8	0	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483																																						ENST00000375249.4																			0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(577-579)Cgc>Tgc		hyaluronan binding protein 4							101	114	109					9																	99227683		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227683C>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys					HABP4_ENST00000375251.3_Intron	p.R193C	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN			3	652	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.577C>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		6	439	0	0	0	1	0	6	439					T	99227683	C	T	99227683	3	4	93	1	0	0	0	0	1	0	0	0	6969	768	27	1	587	1	HABP4	9	99227683	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	78813334	99227683	41985748	40	33991											
ODF2	4957	broad.mit.edu	37	chr9	131245096	131245096	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctgtgttctctcccagcGcctgctgttactgctgcaag	10	14	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:131245096G>A	ENST00000434106.3	+	10	1280	c.917G>A	c.(916-918)cGc>cAc	p.R306H	ODF2_ENST00000604420.1_Splice_Site_p.R306H|ODF2_ENST00000351030.3_Splice_Site_p.R301H|ODF2_ENST00000372791.3_Splice_Site_p.R287H|ODF2_ENST00000546203.1_Splice_Site_p.R287H|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000372814.3_Splice_Site_p.R350H|ODF2_ENST00000393527.3_Splice_Site_p.R282H|ODF2_ENST00000393533.2_Splice_Site_p.R306H|ODF2_ENST00000444119.2_Splice_Site_p.R282H|ODF2_ENST00000448249.3_Splice_Site_p.R225H|ODF2_ENST00000372807.5_Splice_Site_p.R301H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	306					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						CTCTCCCAGCGCCTGCTGTTA	0.522																																						ENST00000303890.5																			0				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						c.e12-1		outer dense fiber of sperm tails 2							66	72	70					9																	131245096		2203	4300	6503	SO:0001630	splice_region_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131245096G>A	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.916-1G>A	9.37:g.131245096G>A						ODF2_ENST00000448249.3_Splice_Site_p.R225_splice|ODF2_ENST00000434106.2_Splice_Site_p.R306_splice|ODF2_ENST00000393533.2_Splice_Site_p.R306_splice|ODF2_ENST00000444119.2_Splice_Site_p.R282_splice|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000351030.3_Splice_Site_p.R301_splice|ODF2_ENST00000372814.3_Splice_Site_p.R350_splice|ODF2_ENST00000372796.4_Splice_Site_p.R306_splice|ODF2_ENST00000546203.1_Splice_Site_p.R287_splice|ODF2_ENST00000372807.5_Splice_Site_p.R301_splice|ODF2_ENST00000372791.3_Splice_Site_p.R287_splice	p.R282_splice	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			12	1430	+			306					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Splice_Site	SNP	ENST00000434106.3	37	c.843_splice	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854984	0.32791	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;1.87;0.93;0.93;0.93	5.66	2.68	0.31781	.	0.552387	0.21440	N	0.074507	T	0.20333	0.0489	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.27316	0.025;0.006;0.115;0.003;0.175;0.066;0.01;0.025;0.024;0.017	B;B;B;B;B;B;B;B;B;B	0.12837	0.002;0.003;0.006;0.002;0.004;0.008;0.004;0.002;0.004;0.003	T	0.05920	-1.0856	10	0.34782	T	0.22	-7.0512	3.5239	0.07752	0.3275:0.0:0.5038:0.1688	.	287;301;225;240;306;350;301;287;306;282	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	H	306;350;301;306;282;225;287;287	ENSP00000377166:R306H;ENSP00000361901:R350H;ENSP00000342581:R301H;ENSP00000361882:R306H;ENSP00000307781:R282H;ENSP00000396687:R225H;ENSP00000437579:R287H;ENSP00000361877:R287H	ENSP00000307781:R282H	R	+	2	0	ODF2	130284917	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	2.513000	0.45494	0.750000	0.32877	0.561000	0.74099	CGC		0.522	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		Missense_Mutation	4	172	0	0	0	1	0	4	172					A	131245096	G	A	131245096	5	1	93	1	0	0	0	0	0	0	1	0	10869	1101	38	1	1006	1	ODF2	9	131245096	Splice_Site	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	32017413	131245096	9968335	41	33992											
HKDC1	80201	broad.mit.edu	37	chr10	71005968	71005968	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaagggcaagatcgaaacaCggcacgtggctgccatggag	14	10	0	1	rs148723879		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:71005968C>T	ENST00000354624.5	+	8	1142	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	337	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						GATCGAAACACGGCACGTGGC	0.572																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1009-1011)Cgg>Tgg		hexokinase domain containing 1		C	TRP/ARG	0,4406		0,0,2203	117	100	106		1009	2.7	0.7	10	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	HKDC1	NM_025130.3	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	337/918	71005968	2,13004	2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71005968C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1009C>T	10.37:g.71005968C>T	ENSP00000346643:p.Arg337Trp					HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	p.R337W	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			8	1142	+			337					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.1009C>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900111	0.52227	0.0	2.33E-4	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96554	-4.05;-4.05	4.68	2.69	0.31865	Hexokinase, C-terminal (1);	0.498975	0.22141	N	0.064050	D	0.93716	0.7992	M	0.63843	1.955	0.09310	N	1	D	0.69078	0.997	B	0.41917	0.37	D	0.88588	0.3141	10	0.87932	D	0	-9.0294	8.3136	0.32086	0.3743:0.5092:0.1165:0.0	.	337	Q2TB90	HKDC1_HUMAN	W	337	ENSP00000346643:R337W;ENSP00000378521:R337W	ENSP00000346643:R337W	R	+	1	2	HKDC1	70675974	0.065000	0.20965	0.684000	0.30055	0.622000	0.37654	2.558000	0.45879	1.172000	0.42781	0.561000	0.74099	CGG		0.572	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		73	196	0	0	0	1	0	73	196					T	71005968	C	T	71005968	3	4	93	1	0	0	0	0	1	0	0	0	7223	527	19	1	1039	1	HKDC1	10	71005968	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		71005968	64528779	42	33993											
IFIT1	3434	broad.mit.edu	37	chr10	91162577	91162577	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccagcgctgggtatgCgatctctgcctatcgcctgg	12	12	1	1	rs146515241		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:91162577C>T	ENST00000371804.3	+	2	712	c.545C>T	c.(544-546)gCg>gTg	p.A182V	IFIT1_ENST00000546318.1_Missense_Mutation_p.A151V|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGGGTATGCGATCTCTGCC	0.478																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(451-453)gCg>gTg		interferon-induced protein with tetratricopeptide repeats 1		C	VAL/ALA	0,4406		0,0,2203	128	130	129		545	5.2	1	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFIT1	NM_001548.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	182/479	91162577	1,13005	2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162577C>T	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.545C>T	10.37:g.91162577C>T	ENSP00000360869:p.Ala182Val					LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.A182V	p.A151V	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1739	+			182					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.452C>T	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654381	0.67472	0.0	1.16E-4	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.77229	-1.08;-1.08	5.24	5.24	0.73138	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.128318	0.50627	D	0.000102	D	0.89093	0.6617	M	0.89095	3.005	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	D	0.90623	0.4561	10	0.59425	D	0.04	.	18.1674	0.89733	0.0:1.0:0.0:0.0	.	182;182	Q5T7J1;P09914	.;IFIT1_HUMAN	V	182;151	ENSP00000360869:A182V;ENSP00000441968:A151V	ENSP00000360869:A182V	A	+	2	0	IFIT1	91152557	0.999000	0.42202	0.952000	0.39060	0.013000	0.08279	4.613000	0.61176	2.585000	0.87301	0.557000	0.71058	GCG		0.478	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		7	781	0	0	0	1	0	7	781					T	91162577	C	T	91162577	3	4	93	1	0	0	0	0	1	0	0	0	7551	768	27	1	551	1	IFIT1	10	91162577	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	20156609	91162577	44372170	43	33994											
SLIT1	6585	broad.mit.edu	37	chr10	98762035	98762035	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagggctctgccagggcccCggcctggttgcacagtgccc	15	16	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:98762035C>T	ENST00000266058.4	-	36	4491	c.4246G>A	c.(4246-4248)Ggg>Agg	p.G1416R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1416					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCAGGGCCCCGGCCTGGTTG	0.662																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(4246-4248)Ggg>Agg		slit homolog 1 (Drosophila)							13	15	14					10																	98762035		2199	4289	6488	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98762035C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4246G>A	10.37:g.98762035C>T	ENSP00000266058:p.Gly1416Arg					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	p.G1416R	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	36	4491	-		Colorectal(252;0.162)	1416					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.4246G>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	4.285	0.052094	0.08291	.	.	ENSG00000187122	ENST00000266058	T	0.80480	-1.38	4.42	2.57	0.30868	.	0.164002	0.53938	N	0.000048	T	0.58323	0.2114	N	0.04203	-0.255	0.45354	D	0.998344	B	0.06786	0.001	B	0.04013	0.001	T	0.45804	-0.9236	10	0.29301	T	0.29	.	10.0301	0.42096	0.0:0.771:0.0:0.229	.	1416	O75093	SLIT1_HUMAN	R	1416	ENSP00000266058:G1416R	ENSP00000266058:G1416R	G	-	1	0	SLIT1	98752025	0.007000	0.16637	0.178000	0.23040	0.155000	0.21991	0.849000	0.27723	0.499000	0.27970	-0.221000	0.12465	GGG		0.662	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		16	45	0	0	0	1	0	16	45					T	98762035	C	T	98762035	3	4	93	1	0	0	0	0	1	0	0	0	14789	652	23	1	366	1	SLIT1	10	98762035	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	7599458	98762035	36772712	44	33995											
SHOC2	8036	broad.mit.edu	37	chr10	112724158	112724158	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagactctaaagaaaaAgatcccaaagtaccatcagc	6	9	2	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:112724158A>G	ENST00000369452.4	+	2	387	c.42A>G	c.(40-42)aaA>aaG	p.K14K	SHOC2_ENST00000265277.5_Silent_p.K14K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	14					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)		CTAAAGAAAAAGATCCCAAAG	0.383																																						ENST00000369452.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17						c.(40-42)aaA>aaG		soc-2 suppressor of clear homolog (C. elegans)							47	51	50					10																	112724158		2202	4299	6501	SO:0001819	synonymous_variant	8036				fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity	g.chr10:112724158A>G	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.42A>G	10.37:g.112724158A>G						SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Silent_p.K14K	p.K14K	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN		Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)	2	387	+			14					A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.42A>G	CCDS7568.1																																																																																				0.383	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373		4	168	0	0	0	1	0	4	168					G	112724158	A	G	112724158	2	3	93	1	0	0	0	0	0	0	0	1	14337	69	3	4		4	SHOC2	10	112724158	Silent	SNP	A	TCGA-IB-AAUN-01A-12D-A38G-08	13962123	112724158	22810589	45	33996											
TDRD1	56165	broad.mit.edu	37	chr10	115970681	115970681	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcagttgcctccacgctctGatttttatccagccattggt	7	12	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:115970681G>T	ENST00000369280.1	+	13	2075	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	TDRD1_ENST00000251864.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					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)		TCCACGCTCTGATTTTTATCC	0.348																																						ENST00000251864.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48						c.(1615-1617)Gat>Tat		tudor domain containing 1							120	108	112					10																	115970681		2203	4300	6503	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115970681G>T	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.1615G>T	10.37:g.115970681G>T	ENSP00000358286:p.Asp539Tyr					TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y|TDRD1_ENST00000369280.1_Missense_Mutation_p.D539Y	p.D539Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	13	1768	+		Colorectal(252;0.172)|Breast(234;0.188)	539					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.1615G>T		.	.	.	.	.	.	.	.	.	.	G	13.84	2.356797	0.41801	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.9	4.05	0.47172	Maternal tudor protein (1);	0.205916	0.39985	N	0.001202	T	0.27098	0.0664	M	0.75884	2.315	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.978;0.973;0.995;0.955;0.991	T	0.07366	-1.0776	10	0.66056	D	0.02	-14.3001	5.4576	0.16600	0.2129:0.0:0.6388:0.1482	.	200;539;539;539;539	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	539;539;539;200;539	ENSP00000358288:D539Y;ENSP00000251864:D539Y;ENSP00000358287:D539Y;ENSP00000402794:D200Y;ENSP00000358286:D539Y	ENSP00000251864:D539Y	D	+	1	0	TDRD1	115960671	0.914000	0.31030	0.540000	0.28089	0.698000	0.40448	1.437000	0.34991	1.498000	0.48600	0.563000	0.77884	GAT		0.348	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2			77	199	1	0	6.8793e-45	1	7.4352e-45	77	199					T	115970681	G	T	115970681	3	4	93	1	0	0	0	0	1	0	0	0	15782	1290	45	3	1661	3	TDRD1	10	115970681	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	3246523	115970681	19564066	46	33997											
GFRA1	2674	broad.mit.edu	37	chr10	118030528	118030528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacgcactgccttagcgtgCggtacttggtgctgcagctc	12	14	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:118030528C>T	ENST00000355422.6	-	3	690	c.140G>A	c.(139-141)cGc>cAc	p.R47H	GFRA1_ENST00000439649.3_Missense_Mutation_p.R47H|GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	47					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)		CCTTAGCGTGCGGTACTTGGT	0.637																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(139-141)cGc>cAc		GDNF family receptor alpha 1							71	59	63					10																	118030528		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030528C>T	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.140G>A	10.37:g.118030528C>T	ENSP00000347591:p.Arg47His					GFRA1_ENST00000355422.6_Missense_Mutation_p.R47H|GFRA1_ENST00000369236.1_Missense_Mutation_p.R47H	p.R47H	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	507	-		Lung NSC(174;0.21)	47					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.140G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527077	0.96431	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	3.95	3.95	0.45737	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78682	-0.2109	10	0.52906	T	0.07	-20.05	16.2431	0.82426	0.0:1.0:0.0:0.0	.	47;47	P56159;P56159-2	GFRA1_HUMAN;.	H	47	ENSP00000393725:R47H;ENSP00000358239:R47H;ENSP00000347591:R47H;ENSP00000358237:R47H	ENSP00000347591:R47H	R	-	2	0	GFRA1	118020518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.617000	0.83032	2.044000	0.60594	0.549000	0.68633	CGC		0.637	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		7	276	0	0	0	1	0	7	276					T	118030528	C	T	118030528	3	4	93	1	0	0	0	0	1	0	0	0	6376	768	27	1	1293	1	GFRA1	10	118030528	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	2059847	118030528	17504219	47	33998											
HINFP	25988	broad.mit.edu	37	chr11	119004822	119004822	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacatgaagatggctatatgCggctgcagctggttcgctac	12	9	0	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:119004822C>T	ENST00000350777.2	+	10	1231	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	HINFP_ENST00000527410.1_Silent_p.C410C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	390	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R390W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGCTATATGCGGCTGCAGCT	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000350777.2																			1	Substitution - Missense(1)	p.R390W(1)	kidney(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1168-1170)Cgg>Tgg		histone H4 transcription factor							58	59	59					11																	119004822		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119004822C>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"Zinc fingers, C2H2-type"	17850	protein-coding gene	gene with protein product	"histone nuclear factor P"	607099	"MBD2-interacting zinc finger 1", "MBD2-interacting zinc finger"	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1168C>T	11.37:g.119004822C>T	ENSP00000318085:p.Arg390Trp		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_ENST00000527410.1_Silent_p.C410C	p.R390W	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			10	1231	+			390			Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1168C>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964717	0.74131	.	.	ENSG00000172273	ENST00000350777	T	0.10573	2.86	5.31	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02646	-1.1129	10	0.87932	D	0	-27.7523	14.9379	0.70970	0.5073:0.4927:0.0:0.0	.	390	Q9BQA5	HINFP_HUMAN	W	390	ENSP00000318085:R390W	ENSP00000318085:R390W	R	+	1	2	HINFP	118510032	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.333000	0.43912	0.360000	0.24265	-0.152000	0.13540	CGG		0.567	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		5	324	0	0	0	1	0	5	324					T	119004822	C	T	119004822	3	4	93	1	0	0	0	0	1	0	0	0	7140	759	27	1	1202	1	HINFP	11	119004822	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		119004822	16001694	48	33999											
OR10G7	390265	broad.mit.edu	37	chr11	123909404	123909404	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctccccaggaagtggaaaAaatagagctgagccacgcag	12	10	0	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:123909404A>G	ENST00000330487.5	-	1	313	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	102						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)		GAAGTGGAAAAAATAGAGCTG	0.532																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(304-306)tTt>tCt		olfactory receptor, family 10, subfamily G, member 7							124	133	130					11																	123909404		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909404A>G	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.305T>C	11.37:g.123909404A>G	ENSP00000329689:p.Phe102Ser						p.F102S	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	313	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	102					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.305T>C	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	0.908	-0.719988	0.03182	.	.	ENSG00000182634	ENST00000330487	T	0.00502	6.95	3.39	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	1.214850	0.05929	N	0.634898	T	0.00524	0.0017	M	0.64630	1.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	10	0.41790	T	0.15	.	5.7826	0.18314	0.3487:0.4967:0.1546:0.0	.	102	Q8NGN6	O10G7_HUMAN	S	102	ENSP00000329689:F102S	ENSP00000329689:F102S	F	-	2	0	OR10G7	123414614	0.000000	0.05858	0.311000	0.25182	0.042000	0.13812	0.173000	0.16724	-0.386000	0.07821	-0.666000	0.03841	TTT		0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		63	575	0	0	0	1	0	63	575					G	123909404	A	G	123909404	3	3	93	1	0	0	0	0	1	0	0	0	10944	14	1	4	634	4	OR10G7	11	123909404	Missense_Mutation	SNP	A	TCGA-IB-AAUN-01A-12D-A38G-08	4904582	123909404	11097112	49	34000											
GRIN2B	2904	broad.mit.edu	37	chr12	13717418	13717418	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgaagtccagggcgctctgCggtgagccattcacaccaga	12	12	2	3			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:13717418C>T	ENST00000609686.1	-	13	2963	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	918					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)	p.P918P(1)		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)	GGGCGCTCTGCGGTGAGCCAT	0.572																																						ENST00000279593.3																			1	Substitution - coding silent(1)	p.P918P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2752-2754)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						167	156	159					12																	13717418		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717418C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2754G>A	12.37:g.13717418C>T							p.P918P	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2963	-			918					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.2754G>A	CCDS8662.1																																																																																				0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	634	0	0	0	1	0	6	634					T	13717418	C	T	13717418	2	4	93	1	0	0	0	0	0	0	0	1	6810	755	27	1		1	GRIN2B	12	13717418	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		13717418	120134477	50	34001											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		76	221	0	0	0	1	0	76	221					T	25398284	C	T	25398284	3	4	93	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	11680866	25398284	108453611	51	34002											
ASB8	140461	broad.mit.edu	37	chr12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgctctctaggagagcccGcacacactcagcattgttct	8	16	3	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					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						AGGAGAGCCCGCACACACTCA	0.527																																						ENST00000317697.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						c.(403-405)Cgg>Tgg		ankyrin repeat and SOCS box containing 8							74	65	68					12																	48543613		2203	4300	6503	SO:0001583	missense	0				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48543613G>A	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.403C>T	12.37:g.48543613G>A	ENSP00000320893:p.Arg135Trp					ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.R135W	p.R135W	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN			4	572	-			135					A8K1P2|Q547Q2	Missense_Mutation	SNP	ENST00000317697.3	37	c.403C>T	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777296	0.70107	.	.	ENSG00000177981	ENST00000317697;ENST00000536549	T;T	0.66815	-0.23;-0.23	5.05	3.09	0.35607	Ankyrin repeat-containing domain (4);	0.108843	0.64402	D	0.000011	T	0.78923	0.4360	M	0.86573	2.825	0.80722	D	1	D	0.67145	0.996	P	0.54815	0.761	D	0.84401	0.0560	10	0.87932	D	0	-13.8627	14.1986	0.65686	0.0:0.0:0.7318:0.2682	.	135	Q9H765	ASB8_HUMAN	W	135	ENSP00000320893:R135W;ENSP00000445622:R135W	ENSP00000320893:R135W	R	-	1	2	ASB8	46829880	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.878000	0.56130	1.261000	0.44149	0.561000	0.74099	CGG		0.527	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			4	196	0	0	0	1	0	4	196					A	48543613	G	A	48543613	3	1	93	1	0	0	0	0	1	0	0	0	1030	1086	38	1	467	1	ASB8	12	48543613	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	23145329	48543613	85308282	52	34003											
BCL7A	605	broad.mit.edu	37	chr12	122492809	122492809	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagactcgggtctggccGcagagacgtctgcaatctct	13	12	3	2	rs148056282		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:122492809G>A	ENST00000261822.4	+	5	744	c.538G>A	c.(538-540)Gca>Aca	p.A180T	BCL7A_ENST00000538010.1_Missense_Mutation_p.A180T	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	180					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)		GGGTCTGGCCGCAGAGACGTC	0.567			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)	ENST00000538010.1				Dom	yes		12	12q24.1	605	T	B-cell CLL/lymphoma 7A			L	MYC		BNHL		0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(538-540)Gca>Aca		B-cell CLL/lymphoma 7A		G	THR/ALA,THR/ALA	0,4406		0,0,2203	70	77	74		538,538	0.1	0	12	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCL7A	NM_001024808.1,NM_020993.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	180/211,180/232	122492809	1,13005	2203	4300	6503	SO:0001583	missense	605				negative regulation of transcription, DNA-dependent			g.chr12:122492809G>A	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.538G>A	12.37:g.122492809G>A	ENSP00000261822:p.Ala180Thr		OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1519	BCL7A_ENST00000261822.4_Missense_Mutation_p.A180T	p.A180T	NM_020993.3	NP_066273.1	Q4VC05	BCL7A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)	5	3208	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		180					B4DJN6|B7ZB21|Q13843|Q14CT7	Missense_Mutation	SNP	ENST00000261822.4	37	c.538G>A	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	G	0.318	-0.963497	0.02249	0.0	1.16E-4	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.44083	0.93;1.01	6.07	0.0514	0.14297	.	0.533452	0.21468	N	0.074043	T	0.12774	0.0310	N	0.02539	-0.55	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.002	T	0.28299	-1.0048	10	0.08837	T	0.75	.	5.2306	0.15420	0.4794:0.0:0.3844:0.1362	.	180;180	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	T	180	ENSP00000445868:A180T;ENSP00000261822:A180T	ENSP00000261822:A180T	A	+	1	0	BCL7A	120977192	0.318000	0.24598	0.000000	0.03702	0.001000	0.01503	0.660000	0.25009	-0.097000	0.12307	-0.137000	0.14449	GCA		0.567	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000401712.1			6	293	0	0	0	1	0	6	293					A	122492809	G	A	122492809	3	1	93	1	0	0	0	0	1	0	0	0	1379	1087	38	1	556	1	BCL7A	12	122492809	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	73949196	122492809	11359086	53	34004											
TPTE2	93492	broad.mit.edu	37	chr13	20006615	20006615	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacacataaagcacttaccaCgaatcgaataaataatgaat	4	8	0	1	rs140778301	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:20006615C>T	ENST00000400230.2	-	16	1264	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	TPTE2_ENST00000400103.2_Missense_Mutation_p.R296H|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367H|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330H|TPTE2_ENST00000457266.2_Missense_Mutation_p.R296H|TPTE2_ENST00000390680.2_Missense_Mutation_p.R330H|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407H|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	407	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			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)		GCACTTACCACGAATCGAATA	0.393																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1219-1221)cGt>cAt		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	30	27	28		887,989,1220	1.4	0.3	13	dbSNP_134	28	0,8594		0,0,4297	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	29,29,29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	296/412,330/446,407/523	20006615	1,12999	2203	4297	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20006615C>T	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.1220G>A	13.37:g.20006615C>T	ENSP00000383089:p.Arg407His					TPTE2_ENST00000457266.2_Missense_Mutation_p.R296H|TPTE2_ENST00000255310.6_Missense_Mutation_p.R330H|TPTE2_ENST00000400103.2_Missense_Mutation_p.R296H|TPTE2_ENST00000390680.2_Missense_Mutation_p.R330H|TPTE2_ENST00000382978.1_Missense_Mutation_p.R367H|TPTE2_ENST00000382977.4_Missense_Mutation_p.R407H|TPTE2_ENST00000382975.4_Missense_Mutation_p.R367H	p.R407H			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	16	1264	-		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)	407			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1220G>A	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	6.843	0.524841	0.13066	2.27E-4	0.0	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	2.75	1.37	0.22104	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.315610	0.34507	N	0.003913	T	0.55178	0.1904	N	0.00926	-1.1	0.24752	N	0.992974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.50466	-0.8825	9	.	.	.	-10.6655	6.2562	0.20876	0.0:0.1356:0.0:0.8644	.	296;330;407	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	H	367;296;407;330;330;407;367;296;407;276	ENSP00000372438:R367H;ENSP00000382974:R296H;ENSP00000383089:R407H;ENSP00000255310:R330H;ENSP00000375098:R330H;ENSP00000372437:R407H;ENSP00000372435:R367H;ENSP00000442218:R296H	.	R	-	2	0	TPTE2	18904615	1.000000	0.71417	0.338000	0.25549	0.004000	0.04260	1.617000	0.36943	0.462000	0.27095	-0.687000	0.03738	CGT		0.393	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		4	181	0	0	0	1	0	4	181					T	20006615	C	T	20006615	3	4	93	1	0	0	0	0	1	0	0	0	16484	536	19	1	368	1	TPTE2	13	20006615	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		20006615	95163263	54	34005											
TPTE2	93492	broad.mit.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaacttggaaagtcgtTctaacatactttagccacca	5	11	2	0	rs200244531		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43					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.E43A(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)		GGAAAGTCGTTCTAACATACT	0.313																																						ENST00000400230.2																			1	Substitution - Missense(1)	p.E43A(1)	kidney(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						c.(127-129)gAa>gCa		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							52	51	51					13																	20056679		2201	4299	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056679T>G	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.128A>C	13.37:g.20056679T>G	ENSP00000383089:p.Glu43Ala					TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A	p.E43A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	172	-		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)	43					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.128A>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	2.387	-0.340821	0.05243	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94931	-3.56;-3.53;-3.47;-3.47;-3.56;-3.53	2.06	0.858	0.19030	.	0.878504	0.09602	U	0.780065	D	0.86159	0.5866	N	0.21448	0.665	0.09310	N	1	B;B	0.28850	0.225;0.0	B;B	0.19946	0.027;0.0	T	0.74598	-0.3612	9	.	.	.	-0.5937	3.8365	0.08896	0.0:0.192:0.0:0.808	.	43;43	A8MX64;Q6XPS3	.;TPTE2_HUMAN	A	43	ENSP00000372438:E43A;ENSP00000382974:E43A;ENSP00000383089:E43A;ENSP00000372437:E43A;ENSP00000372435:E43A;ENSP00000442218:E43A	.	E	-	2	0	TPTE2	18954679	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.422000	0.21296	0.241000	0.21283	0.383000	0.25322	GAA		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		5	264	0	0	0	1	0	5	264					G	20056679	T	G	20056679	3	3	93	1	0	0	0	0	1	0	0	0	16484	1783	62	4	1508	4	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	50064	20056679	95113199	55	34006											
CCNA1	8900	broad.mit.edu	37	chr13	37012789	37012789	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcccaatcagataaggcaCagacccaaagcacactacat	5	13	1	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:37012789C>T	ENST00000255465.4	+	5	942	c.678C>T	c.(676-678)caC>caT	p.H226H	CCNA1_ENST00000449823.1_Silent_p.H182H|CCNA1_ENST00000440264.1_Silent_p.H182H|CCNA1_ENST00000418263.1_Silent_p.H225H			P78396	CCNA1_HUMAN	cyclin A1	226					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)		AGATAAGGCACAGACCCAAAG	0.418																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(673-675)caC>caT		cyclin A1							88	78	82					13																	37012789		2203	4300	6503	SO:0001819	synonymous_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012789C>T	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.678C>T	13.37:g.37012789C>T						CCNA1_ENST00000440264.1_Silent_p.H182H|CCNA1_ENST00000255465.4_Silent_p.H226H|CCNA1_ENST00000449823.1_Silent_p.H182H	p.H225H	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	5	1025	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	226					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	c.675C>T	CCDS9357.1																																																																																				0.418	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		41	107	0	0	0	1	0	41	107					T	37012789	C	T	37012789	2	4	93	1	0	0	0	0	0	0	0	1	2918	477	17	2		2	CCNA1	13	37012789	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	16956110	37012789	78157089	56	34007											
ADCY4	196883	broad.mit.edu	37	chr14	24802075	24802075	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcgacccataccaagccGgacaggggacgcgtccagcg	14	15	0	0	rs149539471	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:24802075G>A	ENST00000310677.4	-	3	392	c.279C>T	c.(277-279)tcC>tcT	p.S93S	ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.S93S|ADCY4_ENST00000554068.2_Silent_p.S93S|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.R160W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	93					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)		ATACCAAGCCGGACAGGGGAC	0.716											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000555591.1																			0											c.(478-480)Cgg>Tgg									15	20	18					14																	24802075		2193	4290	6483	SO:0001819	synonymous_variant	0							g.chr14:24802075G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.279C>T	14.37:g.24802075G>A			OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	774	ADCY4_ENST00000418030.2_Silent_p.S93S|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000554068.2_Silent_p.S93S|ADCY4_ENST00000310677.4_Silent_p.S93S|ADCY4_ENST00000396747.3_5'UTR	p.R160W							3	477	-								B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.478C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.201359	0.01581	.	.	ENSG00000258973	ENST00000555591	.	.	.	5.76	-11.5	0.00074	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	T	0.77670	-0.2501	4	.	.	.	.	8.2616	0.31788	0.2962:0.4587:0.0574:0.1877	.	.	.	.	W	160	.	.	R	-	1	2	RP11-934B9.3	23871915	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-8.878000	0.00016	-9.351000	0.00000	-4.402000	0.00006	CGG		0.716	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			3	45	0	0	0	1	0	3	45					A	24802075	G	A	24802075	2	1	93	1	0	0	0	0	0	0	0	1	296	1103	39	1		1	ADCY4	14	24802075	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		24802075	82547465	57	34008											
KIAA0586	9786	broad.mit.edu	37	chr14	58915077	58915077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactcattttattagtgctgCactcaagactagtagttttc	7	8	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:58915077C>T	ENST00000556134.1	+	8	1056	c.782C>T	c.(781-783)gCa>gTa	p.A261V	KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V|KIAA0586_ENST00000423743.3_Missense_Mutation_p.A232V|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	261					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						ATTAGTGCTGCACTCAAGACT	0.328																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(694-696)gCa>gTa		KIAA0586							91	84	86					14																	58915077		1813	4077	5890	SO:0001583	missense	9786							g.chr14:58915077C>T	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.782C>T	14.37:g.58915077C>T	ENSP00000452351:p.Ala261Val					KIAA0586_ENST00000556134.1_Missense_Mutation_p.A261V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V	p.A232V	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			8	953	+			276					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.695C>T	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801789	0.90538	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.75102	0.3804	M	0.68952	2.095	0.45239	D	0.998243	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.994;0.998;0.998	T	0.77038	-0.2736	10	0.87932	D	0	.	17.3225	0.87239	0.0:1.0:0.0:0.0	.	136;136;329;276;261;232	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	V	329;261;232;191;276;136	ENSP00000346359:A329V;ENSP00000452351:A261V;ENSP00000399427:A232V;ENSP00000450855:A191V;ENSP00000261244:A276V	ENSP00000261244:A276V	A	+	2	0	KIAA0586	57984830	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.520000	0.60524	2.696000	0.92011	0.585000	0.79938	GCA		0.328	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		70	105	0	0	0	1	0	70	105					T	58915077	C	T	58915077	3	4	93	1	0	0	0	0	1	0	0	0	8216	710	25	2	853	2	KIAA0586	14	58915077	Missense_Mutation	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	34113002	58915077	48434463	58	34009											
INF2	64423	broad.mit.edu	37	chr14	105180688	105180689	+	Frame_Shift_Ins	INS	-	-	T													ctcagcccaccctggagcagINSttggaggagggtggtccacg							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:105180688_105180689insT	ENST00000392634.4	+	21	3301_3302	c.3189_3190insT	c.(3190-3192)ttgfs	p.L1064fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.L1064fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1064					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)		CCCTGGAGCAGTTGGAGGAGGG	0.663																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3187-3192)catggafs		inverted formin, FH2 and WH2 domain containing																																				SO:0001589	frameshift_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105180688_105180689insT	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.3191dupT	14.37:g.105180690_105180690dupT	ENSP00000376410:p.Leu1064fs					INF2_ENST00000330634.7_Frame_Shift_Ins_p.G1064fs	p.G1064fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3301_3302	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1064					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Ins	INS	ENST00000392634.4	37	c.3189_3190insT	CCDS9989.2																																																																																				0.663	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		11	34						11	34	---	---	---	---	T	105180689	-	T	105180688	7	5	93	1	0	1	1	0	0	0	0	0	7764	1020	36	0	3271	0	INF2	14	105180688	Frame_Shift_Ins	INS	-	TCGA-IB-AAUN-01A-12D-A38G-08	46265611	105180688	2168852	59	34010											
TMEM87A	25963	broad.mit.edu	37	chr15	42520944	42520944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataagcgtgttggtgaaatgCcgatacaaagagagttttac	11	5	0	2			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:42520944C>T	ENST00000389834.4	-	13	1470	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	TMEM87A_ENST00000448392.1_Silent_p.R341R|RP11-546B15.1_ENST00000563846.1_RNA	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						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)		TGGTGAAATGCCGATACAAAG	0.383																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1204-1206)cgG>cgA		transmembrane protein 87A							126	119	121					15																	42520944		2203	4299	6502	SO:0001819	synonymous_variant	25963					integral to membrane		g.chr15:42520944C>T	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.1206G>A	15.37:g.42520944C>T						TMEM87A_ENST00000448392.1_Silent_p.R341R	p.R402R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	13	1470	-		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)	402					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	ENST00000389834.4	37	c.1206G>A	CCDS32205.1																																																																																				0.383	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		5	455	0	0	0	1	0	5	455					T	42520944	C	T	42520944	2	4	93	1	0	0	0	0	0	0	0	1	16262	726	26	2		2	TMEM87A	15	42520944	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08		42520944	60010448	60	34011											
MYO5C	55930	broad.mit.edu	37	chr15	52536564	52536564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaacatacctcacagtttgCtgaccccggaagtactgctg	8	14	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:52536564C>T	ENST00000261839.7	-	19	2540	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	793	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCACAGTTTGCTGACCCCGGA	0.527																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2377-2379)caG>caA		myosin VC							62	69	67					15																	52536564		2134	4235	6369	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52536564C>T	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.2379G>A	15.37:g.52536564C>T						MYO5C_ENST00000443683.2_3'UTR	p.Q793Q	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	19	2540	-			793			IQ 2.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2379G>A	CCDS42036.1																																																																																				0.527	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	367	0	0	0	1	0	5	367					T	52536564	C	T	52536564	2	4	93	1	0	0	0	0	0	0	0	1	10121	796	28	2		2	MYO5C	15	52536564	Silent	SNP	C	TCGA-IB-AAUN-01A-12D-A38G-08	10015620	52536564	49994828	61	34012											
RAB27A	5873	broad.mit.edu	37	chr15	55497880	55497880	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtttgtcccattggcaGcactagtttcaaagtagggg	11	7	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:55497880G>A	ENST00000396307.2	-	6	742	c.491C>T	c.(490-492)gCt>gTt	p.A164V	RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	164					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)		CCCATTGGCAGCACTAGTTTC	0.443																																						ENST00000396307.2																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9						c.(490-492)gCt>gTt		RAB27A, member RAS oncogene family							200	162	175					15																	55497880		2193	4292	6485	SO:0001583	missense	5873				small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	g.chr15:55497880G>A	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.491C>T	15.37:g.55497880G>A	ENSP00000379601:p.Ala164Val					RAB27A_ENST00000569493.1_Missense_Mutation_p.A164V|RAB27A_ENST00000564609.1_Missense_Mutation_p.A164V|RAB27A_ENST00000336787.1_Missense_Mutation_p.A164V	p.A164V	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN		all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)	6	742	-			164					O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	ENST00000396307.2	37	c.491C>T	CCDS10153.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584941	0.96578	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	D;D	0.88818	-2.43;-2.43	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95494	0.8536	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96017	0.9006	10	0.87932	D	0	-18.6991	18.3593	0.90370	0.0:0.0:1.0:0.0	.	164	P51159	RB27A_HUMAN	V	164;156;164	ENSP00000379601:A164V;ENSP00000337761:A164V	ENSP00000337761:A164V	A	-	2	0	RAB27A	53285172	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.751000	0.98889	2.585000	0.87301	0.655000	0.94253	GCT		0.443	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254918.1	NM_004580, NM_183236		5	355	0	0	0	1	0	5	355					A	55497880	G	A	55497880	3	1	93	1	0	0	0	0	1	0	0	0	12964	971	34	2	178	2	RAB27A	15	55497880	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	2961316	55497880	47033512	62	34013											
CBFB	865	broad.mit.edu	37	chr16	67070587	67070587	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctccagttttttccgGccagctggcagggagaacag	12	11	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:67070587G>A	ENST00000290858.6	+	3	472	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	CBFB_ENST00000412916.2_Missense_Mutation_p.A71T|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	71					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTTTTCCGGCCAGCTGGCA	0.423			T	MYH11	AML																																	ENST00000290858.6				Dom	yes		16	16q22	865	T	"core-binding factor, beta subunit"			L	MYH11		AML		0				breast(3)|large_intestine(1)	4						c.(211-213)Gcc>Acc		core-binding factor, beta subunit							85	86	86					16																	67070587		2200	4300	6500	SO:0001583	missense	865				transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr16:67070587G>A	BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.211G>A	16.37:g.67070587G>A	ENSP00000290858:p.Ala71Thr					CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Missense_Mutation_p.A71T	p.A71T	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)	3	472	+		Ovarian(137;0.0563)	71					A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	ENST00000290858.6	37	c.211G>A	CCDS10827.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115638	0.56505	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.05	5.05	0.67936	.	0.054238	0.64402	D	0.000001	T	0.74489	0.3723	L	0.58101	1.795	0.80722	D	1	P;D	0.58268	0.547;0.982	B;D	0.70935	0.361;0.971	T	0.69584	-0.5106	9	0.22109	T	0.4	-2.3241	17.3257	0.87246	0.0:0.0:1.0:0.0	.	71;71	Q13951-2;Q13951	.;PEBB_HUMAN	T	71	.	ENSP00000290858:A71T	A	+	1	0	CBFB	65628088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.171000	0.94802	2.498000	0.84270	0.561000	0.74099	GCC		0.423	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2	NM_001755		6	485	0	0	0	1	0	6	485					A	67070587	G	A	67070587	3	1	93	1	0	0	0	0	1	0	0	0	2706	1203	42	2	221	2	CBFB	16	67070587	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		67070587	23284166	63	34014											
BANP	54971	broad.mit.edu	37	chr16	88061097	88061097	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccttccaggtcaccttTtctataaatttggcatcaca	6	11	3	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:88061097T>C	ENST00000393207.1	+	8	1101	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L|BANP_ENST00000355163.5_Missense_Mutation_p.F269L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	294	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)		AGGTCACCTTTTCTATAAATT	0.617																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(880-882)Ttc>Ctc		BTG3 associated nuclear protein							64	67	66					16																	88061097		2198	4300	6498	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88061097T>C	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.880T>C	16.37:g.88061097T>C	ENSP00000376902:p.Phe294Leu					BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000355163.5_Missense_Mutation_p.F269L	p.F294L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	8	1101	+			294			BEN.|Interaction with CUX1 and HDAC1 (By similarity).		A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.880T>C	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049507	0.75846	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.5	5.5	0.81552	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.14661	0.345	0.58432	D	0.999999	P;D;D;D;P;D	0.65815	0.951;0.973;0.963;0.995;0.954;0.993	P;P;D;D;D;D	0.77557	0.696;0.872;0.966;0.989;0.916;0.99	T	0.26538	-1.0100	10	0.51188	T	0.08	-0.7334	14.7894	0.69827	0.0:0.0:0.0:1.0	.	302;269;263;294;263;263	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	L	294;269;259;263;263;263;263;302;294	ENSP00000286122:F294L;ENSP00000347290:F269L;ENSP00000432508:F263L;ENSP00000376903:F263L;ENSP00000347125:F263L;ENSP00000444352:F302L;ENSP00000376902:F294L	ENSP00000286122:F294L	F	+	1	0	BANP	86618598	1.000000	0.71417	0.923000	0.36655	0.252000	0.25951	7.305000	0.78891	2.090000	0.63153	0.379000	0.24179	TTC		0.617	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		94	221	0	0	0	1	0	94	221					C	88061097	T	C	88061097	3	2	93	1	0	0	0	0	1	0	0	0	1311	1841	64	4	948	4	BANP	16	88061097	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	20990510	88061097	2293656	64	34015											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	16	4	0	rs587782529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(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)	ATCTCGAAGCGCTCACGCCCA	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM981929	TP53	M		c.(1009-1011)Cgc>Tgc	Other conserved DNA damage response genes	tumor protein p53							56	44	48					17																	7574018		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574018G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	p.R337C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1198	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1009C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	47	0	0	0	1	0	38	47					A	7574018	G	A	7574018	3	1	93	1	0	0	0	0	1	0	0	0	16434	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		7574018	73621192	65	34016											
MYH2	4620	broad.mit.edu	37	chr17	10436865	10436865	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactgggtgtggtcaatgtcGatggatgcaaggagcttctc	14	7	2	0	rs146411264		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:10436865G>A	ENST00000245503.5	-	20	2649	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	755	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCAATGTCGATGGATGCAA	0.403																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2263-2265)atC>atT		myosin, heavy chain 2, skeletal muscle, adult		G	,	0,4406		0,0,2203	156	146	149		2265,2265	-8.1	0.7	17	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	755/1942,755/1942	10436865	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10436865G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2265C>T	17.37:g.10436865G>A						CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I	p.I755I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			20	2649	-			755			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.2265C>T	CCDS11156.1																																																																																				0.403	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	466	0	0	0	1	0	7	466					A	10436865	G	A	10436865	2	1	93	1	0	0	0	0	0	0	0	1	10076	1048	37	1		1	MYH2	17	10436865	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	2862847	10436865	70758345	66	34017											
DBF4B	80174	broad.mit.edu	37	chr17	42828492	42828492	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attccccgaacctcacatccGtgtacccttgccttcccctc	4	20	1	0	rs148114647	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:42828492G>A	ENST00000315005.3	+	14	1857	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	573					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCACATCCGTGTACCCTTG	0.547																																						ENST00000315005.3																			0				kidney(1)|large_intestine(1)|lung(5)	7						c.(1717-1719)ccG>ccA		DBF4 homolog B (S. cerevisiae)		G	,	2,4404	4.2+/-10.8	0,2,2201	126	106	113		,1719	-4.8	0	17	dbSNP_134	113	5,8595	4.3+/-15.6	0,5,4295	no	intron,coding-synonymous	DBF4B	NM_025104.3,NM_145663.2	,	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	,	,573/616	42828492	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828492G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1719G>A	17.37:g.42828492G>A						DBF4B_ENST00000393547.2_Intron	p.P573P	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN			14	1857	+		Prostate(33;0.0322)	573					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.1719G>A	CCDS11485.1																																																																																				0.547	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		100	430	0	0	0	1	0	100	430					A	42828492	G	A	42828492	2	1	93	1	0	0	0	0	0	0	0	1	4260	1132	40	1		1	DBF4B	17	42828492	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	32391627	42828492	38366718	67	34018											
RNF43	54894	broad.mit.edu	37	chr17	56437602	56437603	+	Frame_Shift_Ins	INS	-	-	C													ctcatggaggcaggaaatgaINScccgtagctcctggagaaaa							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:56437602_56437603insC	ENST00000584437.1	-	7	2814_2815	c.859_860insG	c.(859-861)gtcfs	p.V287fs	RNF43_ENST00000583753.1_Frame_Shift_Ins_p.V246fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.V287fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.V287fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.V160fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.V246fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.V160fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	287					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGAAATGACCCGTAGCTCC	0.535																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(859-861)catfs		ring finger protein 43																																				SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56437602_56437603insC		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.860dupG	17.37:g.56437605_56437605dupC	ENSP00000463069:p.Val287fs					RNF43_ENST00000500597.2_Frame_Shift_Ins_p.H246fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.H160fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.H246fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.H287fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.H160fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.H287fs	p.H287fs			Q68DV7	RNF43_HUMAN			7	2814_2815	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		287					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Ins	INS	ENST00000584437.1	37	c.859_860insG	CCDS11607.1																																																																																				0.535	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		78	131						78	131	---	---	---	---	C	56437603	-	C	56437602	7	5	93	1	0	1	1	0	0	0	0	0	13545	275	10	0	1503	0	RNF43	17	56437602	Frame_Shift_Ins	INS	-	TCGA-IB-AAUN-01A-12D-A38G-08	13609110	56437602	24757608	68	34019											
LRRC30	339291	broad.mit.edu	37	chr18	7231664	7231664	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaacaacttcttcgcGcacatccccatgtgtgtgtt	7	14	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552																																						ENST00000383467.2																			1	Substitution - coding silent(1)	p.A176A(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(526-528)gcG>gcA		leucine rich repeat containing 30							96	103	100					18																	7231664		2112	4226	6338	SO:0001819	synonymous_variant	339291							g.chr18:7231664G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.528G>A	18.37:g.7231664G>A							p.A176A	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	542	+			176						Silent	SNP	ENST00000383467.2	37	c.528G>A	CCDS42409.1																																																																																				0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		5	415	0	0	0	1	0	5	415					A	7231664	G	A	7231664	2	1	93	1	0	0	0	0	0	0	0	1	9023	1074	38	1		1	LRRC30	18	7231664	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		7231664	70845584	69	34020											
MBD1	4152	broad.mit.edu	37	chr18	47797907	47797914	+	Splice_Site	DEL	GGACCTAG	GGACCTAG	-													ccaggttttttaaggtctttGgacctagggaaaagggagca					rs371943213		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:47797907_47797914delGGACCTAG	ENST00000591416.1	-	16	2210_2213	c.1779_1782delCTAGGTCC	c.(1777-1782)agctag>ag	p.S*593fs	MBD1_ENST00000424334.2_Splice_Site_p.S*644fs|MBD1_ENST00000436910.1_Splice_Site_p.S*524fs|MBD1_ENST00000398495.2_Splice_Site_p.S*554fs|MBD1_ENST00000269468.5_Splice_Site_p.S*593fs|MBD1_ENST00000398488.1_Splice_Site_p.S*491fs|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000347968.3_Splice_Site_p.S*537fs|MBD1_ENST00000457839.2_Splice_Site_p.S*618fs|MBD1_ENST00000591535.1_Splice_Site_p.S*524fs|MBD1_ENST00000353909.3_Splice_Site_p.S*544fs|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000585595.1_Splice_Site_p.S*618fs|MBD1_ENST00000382948.5_Splice_Site_p.S*593fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000349085.2_Splice_Site_p.S*491fs|MBD1_ENST00000398493.1_Splice_Site_p.S*537fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	593					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						TAAGGTCTTTGGACCTAGGGAAAAGGGA	0.442																																						ENST00000591416.1																			0				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						c.e16-1		methyl-CpG binding domain protein 1																																				SO:0001630	splice_region_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47797907_47797914delGGACCTAG	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.1779-1CTAGGTCC>-	18.37:g.47797907_47797914delGGACCTAG						MBD1_ENST00000585672.1_Intron|MBD1_ENST00000585595.1_Splice_Site_p.618_splice|MBD1_ENST00000457839.2_Splice_Site_p.618_splice|MBD1_ENST00000436910.1_Splice_Site_p.524_splice|MBD1_ENST00000424334.2_Splice_Site_p.644_splice|MBD1_ENST00000398488.1_Splice_Site_p.491_splice|MBD1_ENST00000398493.1_Splice_Site_p.537_splice|MBD1_ENST00000347968.3_Splice_Site_p.537_splice|MBD1_ENST00000382948.5_Splice_Site_p.593_splice|MBD1_ENST00000353909.3_Splice_Site_p.544_splice|MBD1_ENST00000349085.2_Splice_Site_p.491_splice|MBD1_ENST00000591535.1_Splice_Site_p.524_splice|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Splice_Site_p.593_splice|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000398495.2_Splice_Site_p.554_splice|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000587605.1_Intron	p.593_splice			Q9UIS9	MBD1_HUMAN			16	2210_2213	-			593					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Splice_Site	DEL	ENST00000591416.1	37	c.1778_splice	CCDS11943.1																																																																																				0.442	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	Frame_Shift_Del	152	380						152	380	---	---	---	---	-	47797914	GGACCTAG	-	47797907	8	5	93	1	0	1	0	1	0	0	1	0	9383	1335	47	0	233	0	MBD1	18	47797907	Splice_Site	DEL	GGACCTAG	TCGA-IB-AAUN-01A-12D-A38G-08	40566243	47797907	30279341	70	34021											
SMAD4	4089	broad.mit.edu	37	chr18	48586256	48586262	+	Frame_Shift_Del	DEL	GCATTCC	GCATTCC	-													ggcctgttcacaatgagcttGcattccagcctcccatttcc					rs369088915		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:48586256_48586262delGCATTCC	ENST00000342988.3	+	8	1463_1469	c.925_931delGCATTCC	c.(925-933)gcattccagfs	p.AFQ309fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.AFQ309fs|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	309	SAD.				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)|p.Q311*(2)|p.F310L(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)		CAATGAGCTTGCATTCCAGCCTCCCAT	0.329																																						ENST00000342988.3																			42	Whole gene deletion(36)|Unknown(3)|Substitution - Nonsense(2)|Substitution - Missense(1)	p.0?(36)|p.?(3)|p.Q311*(2)|p.F310L(1)	pancreas(27)|large_intestine(4)|breast(4)|stomach(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(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	GRCh37	CI064731	SMAD4	I		c.(925-933)agfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48586256_48586262delGCATTCC	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.925_931delGCATTCC	18.37:g.48586256_48586262delGCATTCC	ENSP00000341551:p.Ala309fs					SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.AFQ309fs	p.AFQ309fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	8	1463_1469	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	309			SAD.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.925_931delGCATTCC	CCDS11950.1																																																																																				0.329	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		62	182						62	182	---	---	---	---	-	48586262	GCATTCC	-	48586256	7	5	93	1	0	1	0	1	0	0	0	0	14810	1319	46	0	951	0	SMAD4	18	48586256	Frame_Shift_Del	DEL	GCATTCC	TCGA-IB-AAUN-01A-12D-A38G-08	788349	48586256	29490992	71	34022											
TCF4	6925	broad.mit.edu	37	chr18	52899813	52899813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctccgaagatttcgTgtcttgcaggttctcatcac	8	12	3	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:52899813T>C	ENST00000356073.4	-	17	2187	c.1576A>G	c.(1576-1578)Acg>Gcg	p.T526A	TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000354452.3_Missense_Mutation_p.T526A|TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	526					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)		GAAGATTTCGTGTCTTGCAGG	0.453																																						ENST00000354452.3																			0				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						c.(1576-1578)Acg>Gcg		transcription factor 4							147	121	130					18																	52899813		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52899813T>C	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.1576A>G	18.37:g.52899813T>C	ENSP00000348374:p.Thr526Ala					TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000561992.1_Missense_Mutation_p.T396A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A|TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000356073.4_Missense_Mutation_p.T526A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A	p.T526A	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	17	2187	-			526					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1576A>G	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	T	2.304	-0.359529	0.05138	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.16897	2.57;2.31;2.62;2.62;2.62;2.57;2.56;2.37;2.55	5.35	4.18	0.49190	.	0.176553	0.51477	D	0.000093	T	0.05777	0.0151	N	0.03050	-0.425	0.38345	D	0.944171	B;B;B;B;B;B;B;B;B	0.18310	0.0;0.016;0.001;0.027;0.0;0.0;0.001;0.0;0.01	B;B;B;B;B;B;B;B;B	0.23150	0.001;0.015;0.001;0.044;0.0;0.001;0.002;0.0;0.003	T	0.24977	-1.0145	10	0.09590	T	0.72	-5.2262	5.6177	0.17440	0.1509:0.0821:0.0:0.767	.	502;526;366;628;526;484;455;366;523	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	A	526;366;526;484;502;502;455;396;628	ENSP00000346440:T526A;ENSP00000409447:T366A;ENSP00000348374:T526A;ENSP00000439656:T484A;ENSP00000445202:T502A;ENSP00000440731:T502A;ENSP00000441562:T455A;ENSP00000439827:T396A;ENSP00000381382:T628A	ENSP00000346440:T526A	T	-	1	0	TCF4	51050811	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	0.581000	0.23819	0.872000	0.35775	0.383000	0.25322	ACG		0.453	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199		113	146	0	0	0	1	0	113	146					C	52899813	T	C	52899813	3	2	93	1	0	0	0	0	1	0	0	0	15747	1696	59	4	451	4	TCF4	18	52899813	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	4313557	52899813	25177435	72	34023											
ZNF99	7652	broad.mit.edu	37	chr19	22941316	22941316	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttttctaagggctgaAaaattgctaaaagctttgct	8	6	2	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:22941316A>C	ENST00000596209.1	-	4	1485	c.1395T>G	c.(1393-1395)ttT>ttG	p.F465L	ZNF99_ENST00000397104.3_Missense_Mutation_p.F374L	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				TAAGGGCTGAAAAATTGCTAA	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1120-1122)ttT>ttG		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941316A>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1395T>G	19.37:g.22941316A>C	ENSP00000472969:p.Phe465Leu					ZNF99_ENST00000596209.1_Missense_Mutation_p.F465L	p.F374L							5	1121	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1122T>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.908376	0.00508	.	.	ENSG00000213973	ENST00000397104	T	0.07021	3.23	1.28	-2.55	0.06288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42749	-0.9433	9	0.11182	T	0.66	.	4.7313	0.12966	0.5088:0.3226:0.1686:0.0	.	374	A8MXY4	ZNF99_HUMAN	L	374	ENSP00000380293:F374L	ENSP00000380293:F374L	F	-	3	2	ZNF99	22733156	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.098000	0.01347	-1.992000	0.00975	-0.630000	0.03990	TTT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	275	0	0	0	1	0	4	275					C	22941316	A	C	22941316	3	2	93	1	0	0	0	0	1	0	0	0	18257	11	1	4	2002	4	ZNF99	19	22941316	Missense_Mutation	SNP	A	TCGA-IB-AAUN-01A-12D-A38G-08		22941316	36187667	73	34024											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		10	471						10	471	---	---	---	---	-	42753151	GAA	-	42753149	7	5	93	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-IB-AAUN-01A-12D-A38G-08	19811833	42753149	16375834	74	34025											
ZFP112	7771	broad.mit.edu	37	chr19	44832430	44832430	+	Frame_Shift_Del	DEL	C	C	-													cacatttgaatggtttttctCcagtgtggactctctgatgg							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:44832430delC	ENST00000337401.4	-	5	1986	c.1898delG	c.(1897-1899)ggafs	p.G633fs	ZNF112_ENST00000354340.4_Frame_Shift_Del_p.G627fs|ZNF112_ENST00000536500.1_Frame_Shift_Del_p.G650fs	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGGTTTTTCTCCAGTGTGGAC	0.453																																						ENST00000354340.4																			0											c.(1879-1881)gafs		zinc finger protein 112							124	125	125					19																	44832430		2203	4300	6503	SO:0001589	frameshift_variant	7665							g.chr19:44832430delC	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.1898delG	19.37:g.44832430delC	ENSP00000337081:p.Gly633fs					ZNF112_ENST00000337401.4_Frame_Shift_Del_p.G633fs|ZNF112_ENST00000536500.1_Frame_Shift_Del_p.G650fs	p.G627fs	NM_013380.3	NP_037512.3					4	1931	-								A4FU53|Q9HCA7	Frame_Shift_Del	DEL	ENST00000337401.4	37	c.1880delG	CCDS54276.1																																																																																				0.453	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		7	951						7	951	---	---	---	---	-	44832430	C	-	44832430	7	5	93	1	0	1	0	1	0	0	0	0	17691	855	30	0	847	0	ZFP112	19	44832430	Frame_Shift_Del	DEL	C	TCGA-IB-AAUN-01A-12D-A38G-08	2079281	44832430	14296553	75	34026											
ACPT	93650	broad.mit.edu	37	chr19	51298323	51298323	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgcccctgctggccGgagctgtagctgtgctggtg	17	11	0	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:51298323G>A	ENST00000270593.1	+	11	1189	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Missense_Mutation_p.G304R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	397						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)		CCTGCTGGCCGGAGCTGTAGC	0.677																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(1189-1191)Gga>Aga		acid phosphatase, testicular							17	17	17					19																	51298323		2196	4289	6485	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51298323G>A	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.1189G>A	19.37:g.51298323G>A	ENSP00000270593:p.Gly397Arg					ACPT_ENST00000270594.3_Missense_Mutation_p.G304R	p.G397R	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	11	1189	+		all_neural(266;0.057)	397					C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.1189G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	18.35	3.605092	0.66445	.	.	ENSG00000142513	ENST00000270593;ENST00000270594	T;T	0.13420	2.76;2.59	4.14	4.14	0.48551	.	0.282362	0.27117	N	0.020860	T	0.24198	0.0586	L	0.41824	1.3	0.33730	D	0.618158	D	0.89917	1.0	D	0.68483	0.958	T	0.16660	-1.0395	10	0.25106	T	0.35	-8.8258	12.3028	0.54884	0.0:0.0:1.0:0.0	.	397	Q9BZG2	PPAT_HUMAN	R	397;304	ENSP00000270593:G397R;ENSP00000270594:G304R	ENSP00000270593:G397R	G	+	1	0	ACPT	55990135	0.999000	0.42202	0.983000	0.44433	0.808000	0.45660	4.443000	0.59994	2.037000	0.60232	0.561000	0.74099	GGA		0.677	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		9	32	0	0	0	1	0	9	32					A	51298323	G	A	51298323	3	1	93	1	0	0	0	0	1	0	0	0	168	1117	39	1	1231	1	ACPT	19	51298323	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	6465893	51298323	7830660	76	34027											
PEG3	5178	broad.mit.edu	37	chr19	57328906	57328906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttcacaaatcccccGccggtgggttgattttttgg	9	11	3	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57328906G>A	ENST00000326441.9	-	10	1267	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	302					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)		CAAATCCCCCGCCGGTGGGTT	0.458																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(904-906)Cgg>Tgg		paternally expressed 3							49	57	54					19																	57328906		2203	4299	6502	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328906G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.904C>T	19.37:g.57328906G>A	ENSP00000326581:p.Arg302Trp					ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	p.R302W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1267	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	302					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.904C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475230	0.63737	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02737	4.18;4.18	4.27	3.22	0.36961	.	0.000000	0.43919	D	0.000511	T	0.06962	0.0177	L	0.27053	0.805	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.972;0.972;0.981	T	0.36407	-0.9749	9	0.51188	T	0.08	-23.6433	11.7512	0.51849	0.0:0.0:0.8225:0.1775	.	178;302;237	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	302;302;272	ENSP00000326581:R302W;ENSP00000403051:R302W	ENSP00000292074:R272W	R	-	1	2	ZIM2	62020718	0.147000	0.22687	0.499000	0.27577	0.991000	0.79684	3.450000	0.52957	1.367000	0.46095	0.561000	0.74099	CGG		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			121	335	0	0	0	1	0	121	335					A	57328906	G	A	57328906	3	1	93	1	0	0	0	0	1	0	0	0	11762	1086	38	1	3866	1	PEG3	19	57328906	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	6030583	57328906	1800077	77	34028											
ZNF548	147694	broad.mit.edu	37	chr19	57910947	57910947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgcgggaaattctttcGttacaactccaacctcatta	6	11	2	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57910947G>A	ENST00000366197.5	+	3	1542	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	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)			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)		AAATTCTTTCGTTACAACTCC	0.463																																						ENST00000366197.5																			0				breast(1)	1						c.(1291-1293)cGt>cAt		zinc finger protein 548							56	58	57					19																	57910947		2198	4298	6496	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910947G>A	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.1292G>A	19.37:g.57910947G>A	ENSP00000379482:p.Arg431His					AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H|AC004076.7_ENST00000597410.1_Intron	p.R431H	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1542	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	431					Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.1292G>A	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188809	0.38609	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.08102	3.13;3.13	2.2	-0.194	0.13240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.54759	0.647;0.76	T	0.23619	-1.0183	9	0.56958	D	0.05	.	1.1705	0.01824	0.1298:0.1918:0.2883:0.3902	.	443;431	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	H	443;431	ENSP00000337555:R443H;ENSP00000379482:R431H	ENSP00000337555:R443H	R	+	2	0	ZNF548	62602759	0.000000	0.05858	0.000000	0.03702	0.938000	0.57974	-7.192000	0.00042	0.045000	0.15804	0.563000	0.77884	CGT		0.463	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		7	319	0	0	0	1	0	7	319					A	57910947	G	A	57910947	3	1	93	1	0	0	0	0	1	0	0	0	18033	1145	40	1	1342	1	ZNF548	19	57910947	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	582041	57910947	1218036	78	34029											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596116	58596116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctctgggggaccgcccGccctagcccccgcctgggct	13	20	1	0	rs200742278	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:58596116G>A	ENST00000240727.6	-	7	1868	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	490					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)		GGGACCGCCCGCCCTAGCCCC	0.741													G|||	2	0.000399361	0.0	0.0	5008	,	,		12838	0.002		0.0	False		,,,				2504	0.0					ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(1468-1470)gCg>gTg		zinc finger and SCAN domain containing 18							7	8	7					19																	58596116		2071	4053	6124	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596116G>A	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.1469C>T	19.37:g.58596116G>A	ENSP00000240727:p.Ala490Val					ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V	p.A490V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1868	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	490					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.1469C>T	CCDS12971.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.994	0.553622	0.13374	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02656	4.47;4.21	3.41	-0.0245	0.13938	.	2.404210	0.02978	N	0.145247	T	0.02455	0.0075	N	0.12182	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	0.45673	-0.9245	10	0.56958	D	0.05	.	7.1996	0.25873	0.5187:0.0:0.4813:0.0	.	546;354;489;490	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	V	546;490;354	ENSP00000240727:A490V;ENSP00000392653:A354V	ENSP00000240727:A490V	A	-	2	0	ZSCAN18	63287928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.557000	0.05985	-0.070000	0.12908	-0.254000	0.11334	GCG		0.741	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		14	21	0	0	0	1	0	14	21					A	58596116	G	A	58596116	3	1	93	1	0	0	0	0	1	0	0	0	18283	1087	38	1	67	1	ZSCAN18	19	58596116	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	685169	58596116	532867	79	34030											
DSTN	11034	broad.mit.edu	37	chr20	17581488	17581489	+	Frame_Shift_Ins	INS	-	-	T													gaaaagaaagaaggctgtcaINSttttttgtctcagtgcagac							TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:17581488_17581489insT	ENST00000246069.7	+	2	455_456	c.109_110insT	c.(109-111)attfs	p.I37fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.I20fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGGCTGTCATTTTTTGTCTC	0.386																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(109-111)tttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581488_17581489insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.115dupT	20.37:g.17581494_17581494dupT	ENSP00000246069:p.Ile37fs					DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs|DSTN_ENST00000474024.1_3'UTR	p.F37fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	455_456	+			37			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.109_110insT	CCDS13127.1																																																																																				0.386	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		14	368						14	368	---	---	---	---	T	17581489	-	T	17581488	7	5	93	1	0	1	1	0	0	0	0	0	4800	217	8	0	115	0	DSTN	20	17581488	Frame_Shift_Ins	INS	-	TCGA-IB-AAUN-01A-12D-A38G-08		17581488	45444032	80	34031											
PMEPA1	56937	broad.mit.edu	37	chr20	56234669	56234669	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaccgtgcagacagcttgTagtggctcagcaggcacgtg	15	10	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:56234669T>C	ENST00000341744.3	-	2	513	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	65					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						AGACAGCTTGTAGTGGCTCAG	0.577																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(193-195)tAc>tGc		prostate transmembrane protein, androgen induced 1							98	68	79					20																	56234669		2203	4300	6503	SO:0001583	missense	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56234669T>C	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.194A>G	20.37:g.56234669T>C	ENSP00000345826:p.Tyr65Cys					PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C	p.Y65C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			2	513	-			65					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	ENST00000341744.3	37	c.194A>G	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185907	0.57909	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.68903	-0.36;-0.24;-0.17;-0.17;-0.17;-0.14;-0.17	4.74	4.74	0.60224	.	0.131993	0.52532	D	0.000066	T	0.81413	0.4817	M	0.78049	2.395	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84316	0.0513	10	0.87932	D	0	-27.9109	14.2249	0.65853	0.0:0.0:0.0:1.0	.	30;65	Q5JY37;Q969W9	.;PMEPA_HUMAN	C	65;30;15;15;15;37;122	ENSP00000345826:Y65C;ENSP00000344014:Y30C;ENSP00000379161:Y15C;ENSP00000265626:Y15C;ENSP00000379159:Y15C;ENSP00000401506:Y37C;ENSP00000379164:Y122C	ENSP00000265626:Y15C	Y	-	2	0	PMEPA1	55668075	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.867000	0.87062	1.774000	0.52232	0.459000	0.35465	TAC		0.577	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		19	47	0	0	0	1	0	19	47					C	56234669	T	C	56234669	3	2	93	1	0	0	0	0	1	0	0	0	12174	1638	57	4	681	4	PMEPA1	20	56234669	Missense_Mutation	SNP	T	TCGA-IB-AAUN-01A-12D-A38G-08	38653181	56234669	6790851	81	34032											
CSF2RB	1439	broad.mit.edu	37	chr22	37326748	37326748	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccagtgctgagggagggGctcggcagcctccacaccag	14	15	0	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:37326748G>A	ENST00000403662.3	+	8	1110	c.888G>A	c.(886-888)ggG>ggA	p.G296G	CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000262825.5_Silent_p.G302G|CSF2RB_ENST00000406230.1_Silent_p.G302G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	296					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)	TGAGGGAGGGGCTCGGCAGCC	0.657																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(904-906)ggG>ggA		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						43	40	41					22																	37326748		2203	4300	6503	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326748G>A	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.888G>A	22.37:g.37326748G>A						CSF2RB_ENST00000403662.3_Silent_p.G296G|CSF2RB_ENST00000536485.1_Silent_p.G243G|CSF2RB_ENST00000406230.1_Silent_p.G302G	p.G302G	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			8	1123	+			296					Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.906G>A	CCDS13936.1																																																																																				0.657	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		43	127	0	0	0	1	0	43	127					A	37326748	G	A	37326748	2	1	93	1	0	0	0	0	0	0	0	1	3946	1190	42	2		2	CSF2RB	22	37326748	Silent	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		37326748	13977818	82	34033											
TTLL12	23170	broad.mit.edu	37	chr22	43575882	43575882	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaggggccacagcagcGtgtaggccacctgctgcggc	14	16	1	0			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:43575882G>A	ENST00000216129.6	-	4	734	c.671C>T	c.(670-672)aCg>aTg	p.T224M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	224					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCACAGCAGCGTGTAGGCCAC	0.657																																						ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(670-672)aCg>aTg		tubulin tyrosine ligase-like family, member 12							51	45	47					22																	43575882		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43575882G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.671C>T	22.37:g.43575882G>A	ENSP00000216129:p.Thr224Met						p.T224M	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			4	734	-		Ovarian(80;0.221)|Glioma(61;0.222)	224					Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.671C>T	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906526	0.72868	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.54479	0.57	5.55	5.55	0.83447	.	0.057372	0.64402	D	0.000001	T	0.63426	0.2510	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.53462	0.96;0.96	P;P	0.46237	0.508;0.508	T	0.70590	-0.4830	10	0.87932	D	0	-2.0841	19.5034	0.95105	0.0:0.0:1.0:0.0	.	224;224	B1AH89;Q14166	.;TTL12_HUMAN	M	224	ENSP00000216129:T224M	ENSP00000216129:T224M	T	-	2	0	TTLL12	41905826	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	9.272000	0.95707	2.593000	0.87608	0.655000	0.94253	ACG		0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		4	160	0	0	0	1	0	4	160					A	43575882	G	A	43575882	3	1	93	1	0	0	0	0	1	0	0	0	16779	1145	40	1	1307	1	TTLL12	22	43575882	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08	6249134	43575882	7728684	83	34034											
ATRX	546	broad.mit.edu	37	chrX	76938955	76938955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatcagcacctttaattgggGaattagaaagggaaacagga	11	5	1	1			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:76938955G>A	ENST00000373344.5	-	9	2007	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	598					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						TTTAATTGGGGAATTAGAAAG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1792-1794)tCc>tTc		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						194	222	213					X																	76938955		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938955G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1793C>T	X.37:g.76938955G>A	ENSP00000362441:p.Ser598Phe					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F	p.S598F	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2007	-			598					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.1793C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.001168	0.35320	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93019	-3.13;-3.15	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000066	D	0.95774	0.8625	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.939;0.991	D	0.96302	0.9222	10	0.72032	D	0.01	-2.9111	17.9679	0.89105	0.0:0.0:1.0:0.0	.	560;598	P46100-4;P46100	.;ATRX_HUMAN	F	598;560	ENSP00000362441:S598F;ENSP00000378967:S560F	ENSP00000362441:S598F	S	-	2	0	ATRX	76825611	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	4.326000	0.59241	2.177000	0.69029	0.509000	0.49947	TCC		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		493	1378	0	0	0	1	0	493	1378					A	76938955	G	A	76938955	3	1	93	1	0	0	0	0	1	0	0	0	1209	1174	41	2	5793	2	ATRX	23	76938955	Missense_Mutation	SNP	G	TCGA-IB-AAUN-01A-12D-A38G-08		76938955	78331605	84	34035											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	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																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	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					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		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)	2	1034_1036	+	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)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		7	101						7	101	---	---	---	---	-	4772585	CCA	-	4772583	7	5	94	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-IB-AAUO-01A-12D-A38G-08		4772583	244478038	1	34036											
CLCNKB	1188	broad.mit.edu	37	chr1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctacctgggccgtgtgCgcaccacgaccatcggggag	14	15	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:16374889C>T	ENST00000375679.4	+	6	661	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	184					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGTGTGCGCACCACGAC	0.662																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(550-552)Cgc>Tgc		chloride channel, voltage-sensitive Kb							57	57	57					1																	16374889		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16374889C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.550C>T	1.37:g.16374889C>T	ENSP00000364831:p.Arg184Cys						p.R184C	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	6	661	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.550C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	18.37	3.608384	0.66558	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.92911	-3.13	4.68	3.69	0.42338	Chloride channel, core (2);	0.349083	0.30649	N	0.009166	D	0.86456	0.5937	L	0.38649	1.16	0.80722	D	1	B	0.20052	0.041	B	0.21151	0.033	D	0.84245	0.0474	10	0.87932	D	0	.	8.4362	0.32789	0.2762:0.5817:0.1421:0.0	.	184	P51801	CLCKB_HUMAN	C	184	ENSP00000364831:R184C	ENSP00000332055:R184C	R	+	1	0	CLCNKB	16247476	1.000000	0.71417	0.627000	0.29227	0.928000	0.56348	2.311000	0.43717	2.139000	0.66308	0.655000	0.94253	CGC		0.662	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		4	141	0	0	0	1	0	4	141					T	16374889	C	T	16374889	3	4	94	1	0	0	0	0	1	0	0	0	3479	768	27	1	568	1	CLCNKB	1	16374889	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	11602306	16374889	232875732	2	34037											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(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)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	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.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		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)	14	2118	+		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)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	252	0	0	0	1	0	5	252					G	21806573	A	G	21806573	3	3	94	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08	5431684	21806573	227444048	3	34038											
EXTL1	2134	broad.mit.edu	37	chr1	26359784	26359784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctcagcctcgatgcccGcagcagtctttccacaagtg	8	16	2	0	rs376982523		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:26359784G>A	ENST00000374280.3	+	8	2363	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	499					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGATGCCCGCAGCAGTCTT	0.597																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1495-1497)cGc>cAc		exostosin-like glycosyltransferase 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	69	71		1496	3.9	1	1		71	0,8600		0,0,4300	no	missense	EXTL1	NM_004455.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	499/677	26359784	1,13005	2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26359784G>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"Exostosin glycosyltransferase family"	3515	protein-coding gene	gene with protein product	"glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"	601738	"exostoses (multiple)-like 1"			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1496G>A	1.37:g.26359784G>A	ENSP00000363398:p.Arg499His						p.R499H	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	8	2363	+		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)	499					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1496G>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464549	0.43736	2.27E-4	0.0	ENSG00000158008	ENST00000374280	T	0.75704	-0.96	5.06	3.93	0.45458	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.323633	0.33092	N	0.005297	T	0.36496	0.0969	N	0.00237	-1.79	0.27362	N	0.955932	B	0.09022	0.002	B	0.09377	0.004	T	0.37686	-0.9695	10	0.51188	T	0.08	-12.2433	7.0466	0.25048	0.8869:0.0:0.1131:0.0	.	499	Q92935	EXTL1_HUMAN	H	499	ENSP00000363398:R499H	ENSP00000363398:R499H	R	+	2	0	EXTL1	26232371	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	6.140000	0.71738	0.950000	0.37743	0.561000	0.74099	CGC		0.597	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		4	157	0	0	0	1	0	4	157					A	26359784	G	A	26359784	3	1	94	1	0	0	0	0	1	0	0	0	5343	1087	38	1	1526	1	EXTL1	1	26359784	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	4553211	26359784	222890837	4	34039											
OPRD1	4985	broad.mit.edu	37	chr1	29185499	29185499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacggccaccaacatctaCatcttcaacctggccttagc	6	15	3	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:29185499C>T	ENST00000234961.2	+	2	503	c.261C>T	c.(259-261)taC>taT	p.Y87Y		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	87					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCAACATCTACATCTTCAACC	0.493																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(259-261)taC>taT		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						114	115	114					1																	29185499		2203	4300	6503	SO:0001819	synonymous_variant	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29185499C>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.261C>T	1.37:g.29185499C>T							p.Y87Y	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	2	503	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	87					B5B0B8	Silent	SNP	ENST00000234961.2	37	c.261C>T	CCDS329.1																																																																																				0.493	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		8	402	0	0	0	1	0	8	402					T	29185499	C	T	29185499	2	4	94	1	0	0	0	0	0	0	0	1	10926	489	17	2		2	OPRD1	1	29185499	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	2825715	29185499	220065122	5	34040											
FOXJ3	22887	broad.mit.edu	37	chr1	42693584	42693584	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtgccctcttctttggCcgagtaggcagcacatcttc	10	13	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:42693584C>T	ENST00000372572.1	-	7	809	c.498G>A	c.(496-498)cgG>cgA	p.R166R	FOXJ3_ENST00000372573.1_Silent_p.R166R|FOXJ3_ENST00000361776.1_Silent_p.R166R|FOXJ3_ENST00000545068.1_Silent_p.R166R|FOXJ3_ENST00000361346.1_Silent_p.R166R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTTCTTTGGCCGAGTAGGCA	0.388																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(496-498)cgG>cgA		forkhead box J3							106	96	100					1																	42693584		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42693584C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"Forkhead boxes"	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.498G>A	1.37:g.42693584C>T						FOXJ3_ENST00000372573.1_Silent_p.R166R|FOXJ3_ENST00000361776.1_Silent_p.R166R|FOXJ3_ENST00000361346.1_Silent_p.R166R|FOXJ3_ENST00000545068.1_Silent_p.R166R	p.R166R	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			7	809	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	166					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.498G>A	CCDS30689.1																																																																																				0.388	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		6	599	0	0	0	1	0	6	599					T	42693584	C	T	42693584	2	4	94	1	0	0	0	0	0	0	0	1	6040	726	26	2		2	FOXJ3	1	42693584	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	13508085	42693584	206557037	6	34041											
NRD1	4898	broad.mit.edu	37	chr1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-													tgtatttagtatcttaccccAaaaaaattttcccataggat							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					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						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53	55	54					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	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.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000485608.1_5'UTR	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		9	1087						9	1087	---	---	---	---	-	52290962	A	-	52290962	7	5	94	1	0	1	0	1	0	0	0	0	10687	130	5	0	2526	0	NRD1	1	52290962	Frame_Shift_Del	DEL	A	TCGA-IB-AAUO-01A-12D-A38G-08	9597378	52290962	196959659	7	34042											
ZCCHC11	23318	broad.mit.edu	37	chr1	52991653	52991653	+	Frame_Shift_Del	DEL	T	T	-													ttcaccggtgaattaggaaaTttttttgctttgcaatgact							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:52991653delT	ENST00000371544.3	-	2	562	c.300delA	c.(298-300)aaafs	p.K100fs	ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000371541.1_5'Flank	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	100					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						AATTAGGAAATTTTTTTGCTT	0.388																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(298-300)aafs		zinc finger, CCHC domain containing 11							130	131	130					1																	52991653		2203	4300	6503	SO:0001589	frameshift_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991653delT	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.300delA	1.37:g.52991653delT	ENSP00000360599:p.Lys100fs					ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.K100fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.K100fs	p.K100fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	562	-			100					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	c.300delA	CCDS30716.1																																																																																				0.388	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		7	921						7	921	---	---	---	---	-	52991653	T	-	52991653	7	5	94	1	0	1	0	1	0	0	0	0	17633	1490	52	0	4753	0	ZCCHC11	1	52991653	Frame_Shift_Del	DEL	T	TCGA-IB-AAUO-01A-12D-A38G-08	700691	52991653	196258968	8	34043											
NBPF9	400818	broad.mit.edu	37	chr1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatataaagtcctggttcacGctcaggaacgagagctgacc	10	10	2	2	rs202229831	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:144814702G>T	ENST00000440491.2	+	3	340	c.340G>T	c.(340-342)Gct>Tct	p.A114S	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	372						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CCTGGTTCACGCTCAGGAACG	0.493													.|||	28	0.00559105	0.0174	0.0029	5008	,	,		21849	0.001		0.002	False		,,,				2504	0.0					ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(340-342)Gct>Tct		neuroblastoma breakpoint family, member 9							74	58	63					1																	144814702		692	1588	2280	SO:0001583	missense	400818							g.chr1:144814702G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.340G>T	1.37:g.144814702G>T	ENSP00000390934:p.Ala114Ser					NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S	p.A114S	NM_001037675.2	NP_001032764.1					3	340	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.340G>T		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.251443	0.00022	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.03468	3.92;3.94	0.618	-1.24	0.09435	.	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.49995	-0.8879	8	0.02654	T	1	.	6.752	0.23491	0.1656:0.0:0.6575:0.177	.	372;112	Q3BBV1;A2BGT5	NBPFK_HUMAN;.	S	114	ENSP00000342975:A114S;ENSP00000390934:A114S	ENSP00000342975:A114S	A	+	1	0	NBPF9	143526059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-4.662000	0.00037	-3.692000	0.00024	GCT		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	758	1	0	3.86212e-05	1	4.07818e-05	7	758					T	144814702	G	T	144814702	3	4	94	1	0	0	0	0	1	0	0	0	10241	1087	38	3	1142	3	NBPF9	1	144814702	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	91823049	144814702	104435919	9	34044											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530955	150530955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccccctcagtgctccGtgcggtgcggccggggccag	15	18	1	0	rs138636937		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:150530955G>A	ENST00000369038.2	+	13	2590	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V820M			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	797	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCAGTGCTCCGTGCGGTGCGG	0.647																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2389-2391)Gtg>Atg		ADAMTS-like 4		G	MET/VAL,MET/VAL	0,4404		0,0,2202	27	30	29		2389,2389	4.9	0.8	1	dbSNP_134	29	1,8593		0,1,4296	no	missense,missense	ADAMTSL4	NM_019032.4,NM_025008.3	21,21	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	797/1075,797/878	150530955	1,12997	2202	4297	6499	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530955G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2389G>A	1.37:g.150530955G>A	ENSP00000358034:p.Val797Met					ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V820M|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.V797M|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.V797M	p.V797M	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		15	2625	+	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)		797			TSP type-1 3.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2389G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516530	0.64634	0.0	1.16E-4	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.91	4.91	0.64330	.	.	.	.	.	T	0.79924	0.4530	M	0.90198	3.095	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.997;0.992	D	0.83613	0.0135	9	0.66056	D	0.02	.	15.633	0.76926	0.0:0.0:1.0:0.0	.	758;820;797;797	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	M	797;797;335;820;797	ENSP00000358037:V797M;ENSP00000271643:V797M;ENSP00000358035:V820M;ENSP00000358034:V797M	ENSP00000271643:V797M	V	+	1	0	ADAMTSL4	148797579	1.000000	0.71417	0.776000	0.31678	0.216000	0.24613	9.034000	0.93747	2.549000	0.85964	0.462000	0.41574	GTG		0.647	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		37	114	0	0	0	1	0	37	114					A	150530955	G	A	150530955	3	1	94	1	0	0	0	0	1	0	0	0	277	1145	40	1	2439	1	ADAMTSL4	1	150530955	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	5716253	150530955	98719666	10	34045											
TDRD5	163589	broad.mit.edu	37	chr1	179604922	179604922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tagacaccagttccctcataGgggtctttgtggagtatatc	10	9	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:179604922G>T	ENST00000367614.1	+	9	1779	c.1420G>T	c.(1420-1422)Ggg>Tgg	p.G474W	TDRD5_ENST00000444136.1_Missense_Mutation_p.G474W|TDRD5_ENST00000294848.8_Missense_Mutation_p.G474W	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	474					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTCCCTCATAGGGGTCTTTGT	0.463																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1420-1422)Ggg>Tgg		tudor domain containing 5							100	94	96					1																	179604922		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179604922G>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1420G>T	1.37:g.179604922G>T	ENSP00000356586:p.Gly474Trp					TDRD5_ENST00000294848.8_Missense_Mutation_p.G474W|TDRD5_ENST00000367614.1_Missense_Mutation_p.G474W	p.G474W	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			9	1670	+			474					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1420G>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058568	0.76074	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.09723	2.95;2.95;2.95	4.94	4.94	0.65067	Maternal tudor protein (1);	0.299142	0.33272	N	0.005083	T	0.28797	0.0714	L	0.52011	1.625	0.46203	D	0.998927	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01309	-1.1389	10	0.72032	D	0.01	-19.4684	16.7233	0.85415	0.0:0.0:1.0:0.0	.	474;474	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	W	474	ENSP00000356586:G474W;ENSP00000294848:G474W;ENSP00000406052:G474W	ENSP00000294848:G474W	G	+	1	0	TDRD5	177871545	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.639000	0.74314	2.279000	0.76181	0.585000	0.79938	GGG		0.463	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		33	243	1	0	1.06647e-15	1	1.16694e-15	33	243					T	179604922	G	T	179604922	3	4	94	1	0	0	0	0	1	0	0	0	15785	1000	35	3	1450	3	TDRD5	1	179604922	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	29073967	179604922	69645699	11	34046											
PLXNA2	5362	broad.mit.edu	37	chr1	208276511	208276511	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttgtgcagggcacaccAgccacagtgagggtccccag	13	13	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:208276511A>G	ENST00000367033.3	-	5	2345	c.1588T>C	c.(1588-1590)Tgg>Cgg	p.W530R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	530					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)		AGGGCACACCAGCCACAGTGA	0.547																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(1588-1590)Tgg>Cgg		plexin A2							68	60	63					1																	208276511		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208276511A>G	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.1588T>C	1.37:g.208276511A>G	ENSP00000356000:p.Trp530Arg						p.W530R	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	5	2345	-			530					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.1588T>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220286	0.79464	.	.	ENSG00000076356	ENST00000367033	D	0.92249	-3.0	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98485	1.0607	10	0.87932	D	0	.	14.5136	0.67804	1.0:0.0:0.0:0.0	.	530	O75051	PLXA2_HUMAN	R	530	ENSP00000356000:W530R	ENSP00000356000:W530R	W	-	1	0	PLXNA2	206343134	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.798000	0.91888	2.025000	0.59659	0.533000	0.62120	TGG		0.547	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		18	75	0	0	0	1	0	18	75					G	208276511	A	G	208276511	3	3	94	1	0	0	0	0	1	0	0	0	12162	188	7	4	4208	4	PLXNA2	1	208276511	Missense_Mutation	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08	28671589	208276511	40974110	12	34047											
AHCTF1	25909	broad.mit.edu	37	chr1	247024493	247024494	+	Frame_Shift_Ins	INS	-	-	A													ccttttcagggctgttcaggINSaaaaaagatgtggtcctatc							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr1:247024493_247024494insA	ENST00000391829.2	-	29	3962_3963	c.3839_3840insT	c.(3838-3840)ttcfs	p.F1280fs	AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.F1289fs|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Frame_Shift_Ins_p.F1315fs			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1280	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)			GGCTGTTCAGGAAAAAAGATGT	0.401																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(3943-3945)tctfs		AT hook containing transcription factor 1																																				SO:0001589	frameshift_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247024493_247024494insA		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.3840dupT	1.37:g.247024499_247024499dupA	ENSP00000375705:p.Phe1280fs					AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.S1289fs|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.S1280fs|AHCTF1_ENST00000470300.1_5'UTR	p.S1315fs			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		29	4080_4081	-	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)	1280			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Ins	INS	ENST00000391829.2	37	c.3944_3945insT																																																																																					0.401	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		48	366						48	366	---	---	---	---	A	247024494	-	A	247024493	7	5	94	1	0	1	1	0	0	0	0	0	408	1165	41	0	2992	0	AHCTF1	1	247024493	Frame_Shift_Ins	INS	-	TCGA-IB-AAUO-01A-12D-A38G-08	38747982	247024493	2226128	13	34048											
GREB1	9687	broad.mit.edu	37	chr2	11780565	11780565	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggccgctcttttttctgacGggacgacacatctgaggaag	12	11	3	2	rs376089071		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:11780565G>A	ENST00000381486.2	+	33	6135	c.5835G>A	c.(5833-5835)acG>acA	p.T1945T	GREB1_ENST00000234142.5_Silent_p.T1945T|GREB1_ENST00000396123.1_Silent_p.T943T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1945						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)		TTTTTCTGACGGGACGACACA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18022	0.0		0.001	False		,,,				2504	0.0				Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5833-5835)acG>acA		growth regulation by estrogen in breast cancer 1		G		1,3893		0,1,1946	78	83	82		5835	-6.8	0.6	2		82	2,8252		0,2,4125	no	coding-synonymous	GREB1	NM_014668.3		0,3,6071	AA,AG,GG		0.0242,0.0257,0.0247		1945/1950	11780565	3,12145	1947	4127	6074	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11780565G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5835G>A	2.37:g.11780565G>A						GREB1_ENST00000396123.1_Silent_p.T943T|GREB1_ENST00000234142.5_Silent_p.T1945T	p.T1945T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	6135	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1945					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5835G>A	CCDS42655.1																																																																																				0.607	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		29	300	0	0	0	1	0	29	300					A	11780565	G	A	11780565	2	1	94	1	0	0	0	0	0	0	0	1	6790	1103	39	1		1	GREB1	2	11780565	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		11780565	231418808	14	34049											
PREPL	9581	broad.mit.edu	37	chr2	44586652	44586652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccttacatgagaagctcCgacttgggatgtttcttgct	9	9	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:44586652C>T	ENST00000409936.1	-	2	640	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PREPL_ENST00000378520.3_Missense_Mutation_p.R68Q|CAMKMT_ENST00000407131.1_5'Flank|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000409411.1_Intron|CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000409957.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000541738.1_Intron|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000378511.3_Missense_Mutation_p.R68Q|PREPL_ENST00000409272.1_Missense_Mutation_p.R68Q|PREPL_ENST00000410081.1_Missense_Mutation_p.R68Q|PREPL_ENST00000260648.6_Missense_Mutation_p.R68Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	68						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)				TGAGAAGCTCCGACTTGGGAT	0.308																																						ENST00000409936.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33						c.(202-204)cGg>cAg		prolyl endopeptidase-like							137	138	137					2																	44586652		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44586652C>T	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.203G>A	2.37:g.44586652C>T	ENSP00000386543:p.Arg68Gln					PREPL_ENST00000409957.1_Intron|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000409272.1_Missense_Mutation_p.R68Q|PREPL_ENST00000260648.6_Missense_Mutation_p.R68Q|PREPL_ENST00000378511.3_Missense_Mutation_p.R68Q|PREPL_ENST00000378520.3_Missense_Mutation_p.R68Q|PREPL_ENST00000541738.1_Intron|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.R68Q	p.R68Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN			2	640	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	68					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.203G>A	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400937	0.83120	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.27	4.38	0.52667	.	0.251803	0.28409	N	0.015459	T	0.48370	0.1496	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;P	0.77557	0.975;0.99;0.846	T	0.42085	-0.9472	9	0.30854	T	0.27	-13.6207	10.0499	0.42210	0.0:0.907:0.0:0.093	.	68;68;68	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	Q	68	.	ENSP00000260648:R68Q	R	-	2	0	PREPL	44440156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.885000	0.39678	2.735000	0.93741	0.655000	0.94253	CGG		0.308	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1	NM_006036		110	573	0	0	0	1	0	110	573					T	44586652	C	T	44586652	3	4	94	1	0	0	0	0	1	0	0	0	12522	652	23	1	2036	1	PREPL	2	44586652	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	32806087	44586652	198612721	15	34050											
BCL11A	53335	broad.mit.edu	37	chr2	60688929	60688929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgacttggacttgaccGggggctgggagggaggaggg	21	7	0	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:60688929G>A	ENST00000335712.6	-	4	1345	c.1118C>T	c.(1117-1119)cCg>cTg	p.P373L	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P373L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P339L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P339L|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	373	Pro-rich.				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)			GGACTTGACCGGGGGCTGGGA	0.627			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1117-1119)cCg>cTg		B-cell CLL/lymphoma 11A (zinc finger protein)							45	53	51					2																	60688929		2200	4295	6495	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688929G>A	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.1118C>T	2.37:g.60688929G>A	ENSP00000338774:p.Pro373Leu					BCL11A_ENST00000356842.4_Missense_Mutation_p.P373L|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P339L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P339L	p.P373L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1345	-			373			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1118C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783620	0.31593	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.10288	2.89;3.11;3.12;3.03	5.74	4.84	0.62591	.	0.186906	0.46442	D	0.000293	T	0.16471	0.0396	M	0.61703	1.905	0.80722	D	1	B;D;B;P	0.56746	0.334;0.977;0.226;0.652	B;B;B;B	0.43194	0.063;0.411;0.017;0.044	T	0.02126	-1.1209	10	0.54805	T	0.06	-1.7699	16.5742	0.84633	0.0:0.1305:0.8695:0.0	.	339;339;373;373	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	L	373;409;339;373;339	ENSP00000349300:P373L;ENSP00000438303:P339L;ENSP00000338774:P373L;ENSP00000351307:P339L	ENSP00000338774:P373L	P	-	2	0	BCL11A	60542433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.309000	0.65774	1.392000	0.46585	0.655000	0.94253	CCG		0.627	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		44	217	0	0	0	1	0	44	217					A	60688929	G	A	60688929	3	1	94	1	0	0	0	0	1	0	0	0	1364	1116	39	1	1499	1	BCL11A	2	60688929	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	16102277	60688929	182510444	16	34051											
DYSF	8291	broad.mit.edu	37	chr2	71742844	71742844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggcagaccaagcggaCgcggatccacaagggaaaca	14	11	0	1	rs398123802		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:71742844C>T	ENST00000258104.3	+	7	1032	c.755C>T	c.(754-756)aCg>aTg	p.T252M	DYSF_ENST00000409744.1_Missense_Mutation_p.T253M|DYSF_ENST00000409651.1_Missense_Mutation_p.T284M|DYSF_ENST00000410020.3_Missense_Mutation_p.T284M|DYSF_ENST00000410041.1_Missense_Mutation_p.T284M|DYSF_ENST00000394120.2_Missense_Mutation_p.T253M|DYSF_ENST00000409582.3_Missense_Mutation_p.T283M|DYSF_ENST00000413539.2_Missense_Mutation_p.T283M|DYSF_ENST00000429174.2_Missense_Mutation_p.T252M|DYSF_ENST00000409762.1_Missense_Mutation_p.T283M|DYSF_ENST00000409366.1_Missense_Mutation_p.T253M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	252	C2 2. {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						ACCAAGCGGACGCGGATCCAC	0.612																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(754-756)aCg>aTg		dysferlin							101	95	97					2																	71742844		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71742844C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.755C>T	2.37:g.71742844C>T	ENSP00000258104:p.Thr252Met					DYSF_ENST00000413539.2_Missense_Mutation_p.T283M|DYSF_ENST00000410020.3_Missense_Mutation_p.T284M|DYSF_ENST00000409582.3_Missense_Mutation_p.T283M|DYSF_ENST00000409651.1_Missense_Mutation_p.T284M|DYSF_ENST00000410041.1_Missense_Mutation_p.T284M|DYSF_ENST00000409366.1_Missense_Mutation_p.T253M|DYSF_ENST00000394120.2_Missense_Mutation_p.T253M|DYSF_ENST00000409762.1_Missense_Mutation_p.T283M|DYSF_ENST00000409744.1_Missense_Mutation_p.T253M|DYSF_ENST00000429174.2_Missense_Mutation_p.T252M	p.T252M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			7	1032	+			252			C2 2.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.755C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899610	0.72754	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.0	5.0	0.66597	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	0.98086	0.9369	H	0.95470	3.675	0.53688	D	0.99997	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;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D	0.99274	1.0894	10	0.87932	D	0	-14.9292	16.1703	0.81808	0.0:1.0:0.0:0.0	.	284;284;253;253;284;253;283;252;283;283;252;252;253;252	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	M	283;283;283;252;252;284;253;253;253;284;284	ENSP00000407046:T283M;ENSP00000387137:T283M;ENSP00000386547:T283M;ENSP00000398305:T252M;ENSP00000258104:T252M;ENSP00000386683:T284M;ENSP00000377678:T253M;ENSP00000386285:T253M;ENSP00000386512:T253M;ENSP00000386881:T284M;ENSP00000386617:T284M	ENSP00000258104:T252M	T	+	2	0	DYSF	71596352	1.000000	0.71417	0.934000	0.37439	0.374000	0.29953	7.351000	0.79395	2.475000	0.83589	0.549000	0.68633	ACG		0.612	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	239	0	0	0	1	0	10	239					T	71742844	C	T	71742844	3	4	94	1	0	0	0	0	1	0	0	0	4875	536	19	1	973	1	DYSF	2	71742844	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	11053915	71742844	171456529	17	34052											
CTNNA2	1496	broad.mit.edu	37	chr2	79971679	79971679	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agatctcaaagaagagttggTggctgctgtagaggatgtgc	15	5	1	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:79971679T>G	ENST00000402739.4	+	2	274	c.269T>G	c.(268-270)gTg>gGg	p.V90G	CTNNA2_ENST00000541047.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V124G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	90					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						GAAGAGTTGGTGGCTGCTGTA	0.443																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(268-270)gTg>gGg		catenin (cadherin-associated protein), alpha 2							91	96	94					2																	79971679		2026	4202	6228	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:79971679T>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.269T>G	2.37:g.79971679T>G	ENSP00000384638:p.Val90Gly					CTNNA2_ENST00000540488.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V90G|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V90G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V124G	p.V90G			P26232	CTNA2_HUMAN			7	993	+			90					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.269T>G		.	.	.	.	.	.	.	.	.	.	T	16.78	3.219037	0.58560	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000409971;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.5	5.5	0.81552	.	0.140504	0.47852	D	0.000201	T	0.19406	0.0466	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.10497	-1.0627	10	0.15066	T	0.55	.	13.5514	0.61734	0.0:0.0:0.0:1.0	.	90;90;90	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	G	90;90;90;124;90;90;90	ENSP00000418191:V90G;ENSP00000419295:V90G;ENSP00000387073:V90G;ENSP00000355398:V124G;ENSP00000384638:V90G;ENSP00000444675:V90G;ENSP00000441705:V90G	ENSP00000355398:V124G	V	+	2	0	CTNNA2	79825187	1.000000	0.71417	0.964000	0.40570	0.951000	0.60555	6.280000	0.72626	2.091000	0.63221	0.383000	0.25322	GTG		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		5	162	0	0	0	1	0	5	162					G	79971679	T	G	79971679	3	3	94	1	0	0	0	0	1	0	0	0	4024	1696	59	4	275	4	CTNNA2	2	79971679	Missense_Mutation	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	8228835	79971679	163227694	18	34053											
IL1RL2	8808	broad.mit.edu	37	chr2	102851439	102851439	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccgaatcgctgggctttggCctgttgaagaacctgtcaga	12	11	1	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:102851439C>T	ENST00000264257.2	+	11	1506	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	IL1RL2_ENST00000441515.2_Silent_p.G342G|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G460G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	460	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGGGCTTTGGCCTGTTGAAGA	0.488																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1378-1380)ggC>ggT		interleukin 1 receptor-like 2							110	106	107					2																	102851439		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102851439C>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1380C>T	2.37:g.102851439C>T						IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.G460G|IL1RL2_ENST00000441515.2_Silent_p.G342G	p.G460G	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			11	1506	+			460			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.1380C>T	CCDS2056.1																																																																																				0.488	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		5	250	0	0	0	1	0	5	250					T	102851439	C	T	102851439	2	4	94	1	0	0	0	0	0	0	0	1	7694	726	26	2		2	IL1RL2	2	102851439	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	22879760	102851439	140347934	19	34054											
ZC3H8	84524	broad.mit.edu	37	chr2	112988508	112988512	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-													gtctattttatttacatgacTtcttttcagtatccaaaacc					rs540736599	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:112988508_112988512delTTCTT	ENST00000409573.2	-	8	988_992	c.859_863delAAGAA	c.(859-864)aagaagfs	p.KK287fs	ZC3H8_ENST00000272570.5_Frame_Shift_Del_p.KK287fs|ZC3H8_ENST00000476902.1_5'UTR			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	287					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						TTTACATGACTTCTTTTCAGTATCC	0.268														10	0.00199681	0.0	0.0029	5008	,	,		14672	0.0		0.008	False		,,,				2504	0.0					ENST00000409573.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						c.(859-864)gfs		zinc finger CCCH-type containing 8				0,2554		0,0,1277						1.2	1			38	34,5696		3,28,2834	no	frameshift	ZC3H8	NM_032494.2		3,28,4111	A1A1,A1R,RR		0.5934,0.0,0.4104				34,8250				SO:0001589	frameshift_variant	84524				apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:112988508_112988512delTTCTT	AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"Zinc fingers, CCCH-type domain containing"	30941	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 8"	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.859_863delAAGAA	2.37:g.112988508_112988512delTTCTT	ENSP00000386488:p.Lys287fs					ZC3H8_ENST00000476902.1_5'UTR|ZC3H8_ENST00000272570.5_Frame_Shift_Del_p.KK287fs	p.KK287fs			Q8N5P1	ZC3H8_HUMAN			8	988_992	-			287					Q9BZ75	Frame_Shift_Del	DEL	ENST00000409573.2	37	c.859_863delAAGAA	CCDS46392.1																																																																																				0.268	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330521.3	NM_032494		2	4						2	4	---	---	---	---	-	112988512	TTCTT	-	112988508	7	5	94	1	0	1	0	1	0	0	0	0	17627	1609	56	0	16	0	ZC3H8	2	112988508	Frame_Shift_Del	DEL	TTCTT	TCGA-IB-AAUO-01A-12D-A38G-08	10137069	112988508	130210865	20	34055											
ZDBF2	57683	broad.mit.edu	37	chr2	207171284	207171284	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggctgatgctcaattagctGaccagtctcaagtagccgaa	10	10	2	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:207171284G>T	ENST00000374423.3	+	5	2418	c.2032G>T	c.(2032-2034)Gac>Tac	p.D678Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	678							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						TCAATTAGCTGACCAGTCTCA	0.428																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2032-2034)Gac>Tac		zinc finger, DBF-type containing 2							71	70	71					2																	207171284		1895	4132	6027	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171284G>T	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.2032G>T	2.37:g.207171284G>T	ENSP00000363545:p.Asp678Tyr						p.D678Y	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	2418	+			678					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2032G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287181	0.40494	.	.	ENSG00000204186	ENST00000374423	T	0.54675	0.56	4.24	3.33	0.38152	.	0.943578	0.08666	N	0.911684	T	0.57330	0.2046	L	0.34521	1.04	0.09310	N	1	D	0.69078	0.997	P	0.58577	0.841	T	0.47156	-0.9139	10	0.66056	D	0.02	.	9.9562	0.41668	0.0:0.2064:0.7936:0.0	.	678	Q9HCK1	ZDBF2_HUMAN	Y	678	ENSP00000363545:D678Y	ENSP00000363545:D678Y	D	+	1	0	ZDBF2	206879529	0.012000	0.17670	0.014000	0.15608	0.007000	0.05969	1.571000	0.36450	1.318000	0.45170	0.655000	0.94253	GAC		0.428	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		29	156	1	0	1.32181e-22	1	1.45688e-22	29	156					T	207171284	G	T	207171284	3	4	94	1	0	0	0	0	1	0	0	0	17652	1290	45	3	2042	3	ZDBF2	2	207171284	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	94182776	207171284	36028089	21	34056											
ASB18	401036	broad.mit.edu	37	chr2	237172977	237172977	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtagtcgggaaggtaatcCgagttggacattgttacgtc	15	6	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr2:237172977C>T	ENST00000409749.3	-	1	11	c.12G>A	c.(10-12)tcG>tcA	p.S4S	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	4					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GAAGGTAATCCGAGTTGGACA	0.493																																						ENST00000409749.3																			0				large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6						c.(10-12)tcG>tcA		ankyrin repeat and SOCS box containing 18							108	102	104					2																	237172977		1994	4170	6164	SO:0001819	synonymous_variant	401036				intracellular signal transduction			g.chr2:237172977C>T	AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"Ankyrin repeat domain containing"	19770	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 18"			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.12G>A	2.37:g.237172977C>T						AC079135.1_ENST00000415226.1_RNA	p.S4S	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)	1	11	-		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)	4					B6ZDL7	Silent	SNP	ENST00000409749.3	37	c.12G>A	CCDS46548.1																																																																																				0.493	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329436.1	NM_212556		5	214	0	0	0	1	0	5	214					T	237172977	C	T	237172977	2	4	94	1	0	0	0	0	0	0	0	1	1023	639	23	1		1	ASB18	2	237172977	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	30001693	237172977	6026396	22	34057											
WDR48	57599	broad.mit.edu	37	chr3	39118643	39118643	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttttcagatggagcttgataGatcagctgatcctcctcctg	9	10	2	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:39118643G>A	ENST00000302313.5	+	9	939	c.911G>A	c.(910-912)aGa>aAa	p.R304K	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R222K|WDR48_ENST00000544962.1_Missense_Mutation_p.R96K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	304					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAGCTTGATAGATCAGCTGAT	0.373																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(910-912)aGa>aAa		WD repeat domain 48							110	111	110					3																	39118643		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39118643G>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.911G>A	3.37:g.39118643G>A	ENSP00000307491:p.Arg304Lys					WDR48_ENST00000396258.3_Missense_Mutation_p.R222K|WDR48_ENST00000544962.1_Missense_Mutation_p.R96K|WDR48_ENST00000418020.1_5'UTR	p.R304K	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	9	939	+			304					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.911G>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948961	0.53186	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.87809	2.28;-2.3;2.25	6.16	6.16	0.99307	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88489	0.6450	N	0.22421	0.69	0.80722	D	1	P;B;B;B	0.47910	0.902;0.046;0.003;0.024	P;B;B;B	0.60173	0.87;0.007;0.001;0.002	D	0.84664	0.0708	10	0.22706	T	0.39	-0.2443	20.8598	0.99761	0.0:0.0:1.0:0.0	.	96;222;295;304	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	304;96;222	ENSP00000307491:R304K;ENSP00000445187:R96K;ENSP00000379557:R222K	ENSP00000307491:R304K	R	+	2	0	WDR48	39093647	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.771000	0.98977	2.937000	0.99478	0.650000	0.86243	AGA		0.373	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		60	323	0	0	0	1	0	60	323					A	39118643	G	A	39118643	3	1	94	1	0	0	0	0	1	0	0	0	17355	942	33	2	945	2	WDR48	3	39118643	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		39118643	158903787	23	34058											
CSPG5	10675	broad.mit.edu	37	chr3	47618421	47618421	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccggcaggagccgttatgCcgcacaaagccactgcggca	13	14	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:47618421C>T	ENST00000383738.2	-	2	3193	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	CSPG5_ENST00000264723.4_Silent_p.R365R|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.R227R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					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)		AGCCGTTATGCCGCACAAAGC	0.627																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)cgG>cgA		chondroitin sulfate proteoglycan 5 (neuroglycan C)							94	97	96					3																	47618421		2203	4299	6502	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618421C>T	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.1095G>A	3.37:g.47618421C>T						CSPG5_ENST00000456150.1_Silent_p.R227R|CSPG5_ENST00000264723.4_Silent_p.R365R	p.R365R	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3193	-			365					Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.1095G>A	CCDS56253.1																																																																																				0.627	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		5	443	0	0	0	1	0	5	443					T	47618421	C	T	47618421	2	4	94	1	0	0	0	0	0	0	0	1	3972	726	26	2		2	CSPG5	3	47618421	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	8499778	47618421	150404009	24	34059											
NFKBIZ	64332	broad.mit.edu	37	chr3	101575980	101575980	+	Frame_Shift_Del	DEL	C	C	-													aagcaaatctggaactcattCgcctctttttggagctgccc							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:101575980delC	ENST00000326172.5	+	10	2003	c.1888delC	c.(1888-1890)cgcfs	p.R630fs	NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.R530fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Del_p.R508fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	630	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGAACTCATTCGCCTCTTTTT	0.463																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1888-1890)gcfs		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							118	134	128					3																	101575980		2203	4300	6503	SO:0001589	frameshift_variant	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101575980delC	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1888delC	3.37:g.101575980delC	ENSP00000325663:p.Arg630fs					NFKBIZ_ENST00000394054.2_Frame_Shift_Del_p.R530fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Del_p.R508fs	p.R630fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			10	2003	+			630			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Frame_Shift_Del	DEL	ENST00000326172.5	37	c.1888delC	CCDS2946.1																																																																																				0.463	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		54	381						54	381	---	---	---	---	-	101575980	C	-	101575980	7	5	94	1	0	1	0	1	0	0	0	0	10425	884	31	0	1926	0	NFKBIZ	3	101575980	Frame_Shift_Del	DEL	C	TCGA-IB-AAUO-01A-12D-A38G-08	53957559	101575980	96446450	25	34060											
PHLDB2	90102	broad.mit.edu	37	chr3	111603672	111603672	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcctgagtcacatgGgagcctacagccgatcactt	11	13	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:111603672G>A	ENST00000431670.2	+	2	1159	c.748G>A	c.(748-750)Gga>Aga	p.G250R	PHLDB2_ENST00000393923.3_Missense_Mutation_p.G277R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G250R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G250R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	250						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						GAGTCACATGGGAGCCTACAG	0.507																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(748-750)Gga>Aga		pleckstrin homology-like domain, family B, member 2							65	68	67					3																	111603672		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603672G>A		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.748G>A	3.37:g.111603672G>A	ENSP00000405405:p.Gly250Arg					PHLDB2_ENST00000393925.3_Missense_Mutation_p.G250R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G277R|PHLDB2_ENST00000478922.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G250R|PHLDB2_ENST00000477695.1_Missense_Mutation_p.G250R	p.G250R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			2	1159	+			250					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.748G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815029	0.70912	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.57273	0.44;0.62;0.46;0.41;0.62;0.46	5.4	5.4	0.78164	.	0.241259	0.41823	D	0.000803	T	0.67988	0.2952	L	0.51422	1.61	0.48185	D	0.999601	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	0.942;1.0;1.0;0.962;0.995	T	0.69320	-0.5176	10	0.72032	D	0.01	.	16.4564	0.84019	0.0:0.0:1.0:0.0	.	250;250;250;250;277	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	R	277;277;250;250;250;250;250;250;250	ENSP00000377500:G277R;ENSP00000405405:G250R;ENSP00000405292:G250R;ENSP00000418296:G250R;ENSP00000377502:G250R;ENSP00000418319:G250R	ENSP00000352764:G277R	G	+	1	0	PHLDB2	113086362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.291000	0.65667	2.703000	0.92315	0.655000	0.94253	GGA		0.507	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		150	268	0	0	0	1	0	150	268					A	111603672	G	A	111603672	3	1	94	1	0	0	0	0	1	0	0	0	11894	1233	43	2	835	2	PHLDB2	3	111603672	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	10027692	111603672	86418758	26	34061											
WDR52	55779	broad.mit.edu	37	chr3	113098247	113098249	+	In_Frame_Del	DEL	TCC	TCC	-													tttcaggtaatggctcttctTcctcctcctcctcctctttc							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:113098247_113098249delTCC	ENST00000295868.2	-	17	2364_2366	c.2202_2204delGGA	c.(2200-2205)gaggaa>gaa	p.734_735EE>E	WDR52_ENST00000393845.2_In_Frame_Del_p.734_735EE>E|WDR52_ENST00000475568.1_5'Flank	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						TGGctcttcttcctcctcctcct	0.458																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2200-2205)gaa>ga		WD repeat domain 52																																				SO:0001651	inframe_deletion	55779							g.chr3:113098247_113098249delTCC																												ENST00000295868.2:c.2202_2204delGGA	3.37:g.113098256_113098258delTCC	ENSP00000295868:p.Glu737del					WDR52_ENST00000295868.2_In_Frame_Del_p.EE736del	p.EE736del	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			17	2268_2270	-			736			Glu-rich.			In_Frame_Del	DEL	ENST00000295868.2	37	c.2202_2204delGGA	CCDS2972.1																																																																																				0.458	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			7	414						7	414	---	---	---	---	-	113098249	TCC	-	113098247	7	5	94	1	0	1	0	1	0	0	0	0	17358	1783	62	0	3451	0	WDR52	3	113098247	In_Frame_Del	DEL	TCC	TCGA-IB-AAUO-01A-12D-A38G-08	1494575	113098247	84924183	27	34062											
MBD4	8930	broad.mit.edu	37	chr3	129151965	129151965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacttgacaatggtttttgCccgaagatcgtagagaccaa	10	8	0	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:129151965C>T	ENST00000249910.1	-	6	1712	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000503197.1_Missense_Mutation_p.A513T|MBD4_ENST00000393278.2_Missense_Mutation_p.A195T|MBD4_ENST00000507208.1_Missense_Mutation_p.A513T|MBD4_ENST00000429544.2_Missense_Mutation_p.A507T	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	513					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGGTTTTTGCCCGAAGATCG	0.403								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1519-1521)Gca>Aca	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							139	141	140					3																	129151965		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129151965C>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1537G>A	3.37:g.129151965C>T	ENSP00000249910:p.Ala513Thr					MBD4_ENST00000249910.1_Missense_Mutation_p.A513T|MBD4_ENST00000503197.1_Missense_Mutation_p.A513T|MBD4_ENST00000393278.2_Missense_Mutation_p.A195T|MBD4_ENST00000507208.1_Missense_Mutation_p.A513T	p.A507T	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN			6	1714	-			513					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1519G>A	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	C	33	5.273592	0.95459	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	6.14	6.14	0.99180	HhH-GPD domain (1);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	T	0.81293	0.4792	M	0.79123	2.44	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.994;0.995;1.0;0.998	D;D;D;D;D	0.91635	0.968;0.945;0.945;0.999;0.98	T	0.80353	-0.1418	10	0.56958	D	0.05	-21.0242	20.4701	0.99162	0.0:1.0:0.0:0.0	.	513;195;507;513;513	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	T	507;513;513;195;513	ENSP00000394080:A507T;ENSP00000249910:A513T;ENSP00000424873:A513T;ENSP00000376959:A195T;ENSP00000422327:A513T	ENSP00000249910:A513T	A	-	1	0	MBD4	130634655	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.291000	0.78721	2.937000	0.99478	0.650000	0.86243	GCA		0.403	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		7	560	0	0	0	1	0	7	560					T	129151965	C	T	129151965	3	4	94	1	0	0	0	0	1	0	0	0	9387	739	26	2	217	2	MBD4	3	129151965	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	16053718	129151965	68870465	28	34063											
TRIM42	287015	broad.mit.edu	37	chr3	140407107	140407107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcacccacagcctcgGcaaccagcacatataccagc	6	17	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:140407107G>A	ENST00000286349.3	+	3	1774	c.1583G>A	c.(1582-1584)gGc>gAc	p.G528D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	528						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						CACAGCCTCGGCAACCAGCAC	0.577																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1582-1584)gGc>gAc		tripartite motif containing 42							96	89	91					3																	140407107		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140407107G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1583G>A	3.37:g.140407107G>A	ENSP00000286349:p.Gly528Asp						p.G528D	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1774	+			528					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1583G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491250	0.12702	.	.	ENSG00000155890	ENST00000286349	T	0.36699	1.24	5.52	-4.17	0.03857	.	0.998540	0.08106	N	0.996959	T	0.15998	0.0385	N	0.24115	0.695	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.30736	-0.9968	10	0.10111	T	0.7	-11.6821	1.9929	0.03450	0.3788:0.1671:0.3411:0.113	.	528	Q8IWZ5	TRI42_HUMAN	D	528	ENSP00000286349:G528D	ENSP00000286349:G528D	G	+	2	0	TRIM42	141889797	0.000000	0.05858	0.007000	0.13788	0.846000	0.48090	-0.386000	0.07370	-0.646000	0.05452	0.655000	0.94253	GGC		0.577	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	427	0	0	0	1	0	6	427					A	140407107	G	A	140407107	3	1	94	1	0	0	0	0	1	0	0	0	16570	1203	42	2	1593	2	TRIM42	3	140407107	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	11255142	140407107	57615323	29	34064											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	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.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		9	262						9	262	---	---	---	---	-	149260196	CTG	-	149260194	7	5	94	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-IB-AAUO-01A-12D-A38G-08	8853087	149260194	48762236	30	34065											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830129	23830129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgaggagggtcatcGtttgtggtcagatatttgag	16	3	2	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:23830129G>A	ENST00000264867.2	-	5	770	c.651C>T	c.(649-651)aaC>aaT	p.N217N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	217					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)				GAGGGTCATCGTTTGTGGTCA	0.468																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(649-651)aaC>aaT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							381	346	357					4																	23830129		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23830129G>A	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.651C>T	4.37:g.23830129G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.N217N	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			5	770	-		Breast(46;0.0503)	217					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.651C>T	CCDS3429.1																																																																																				0.468	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		12	553	0	0	0	1	0	12	553					A	23830129	G	A	23830129	2	1	94	1	0	0	0	0	0	0	0	1	12342	1136	40	1		1	PPARGC1A	4	23830129	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		23830129	167324147	31	34066											
GRID2	2895	broad.mit.edu	37	chr4	94376915	94376915	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actcagtgggggtactacttCgaagggctgaaaagacagtg	14	7	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94376915C>T	ENST00000282020.4	+	11	1906	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.R455*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	550					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)		GGTACTACTTCGAAGGGCTGA	0.478																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1648-1650)Cga>Tga		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						196	171	180					4																	94376915		2203	4300	6503	SO:0001587	stop_gained	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94376915C>T	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.1648C>T	4.37:g.94376915C>T	ENSP00000282020:p.Arg550*					GRID2_ENST00000510992.1_Nonsense_Mutation_p.R455*	p.R550*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	1906	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	550					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Nonsense_Mutation	SNP	ENST00000282020.4	37	c.1648C>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	41	9.088102	0.99061	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1877	0.73016	0.1408:0.8592:0.0:0.0	.	.	.	.	X	550;455	.	ENSP00000282020:R550X	R	+	1	2	GRID2	94595938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.461000	0.53035	2.836000	0.97738	0.655000	0.94253	CGA		0.478	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			13	375	0	0	0	1	0	13	375					T	94376915	C	T	94376915	4	4	94	1	0	0	0	0	0	1	0	0	6802	876	31	1	1690	1	GRID2	4	94376915	Nonsense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	70546786	94376915	96777361	32	34067											
GRID2	2895	broad.mit.edu	37	chr4	94547520	94547520	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttacaccattggaaatactgTtgctgatcggggatatggaa	11	6	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:94547520T>G	ENST00000282020.4	+	14	2552	c.2294T>G	c.(2293-2295)gTt>gGt	p.V765G	GRID2_ENST00000510992.1_Missense_Mutation_p.V670G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	765					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)		GGAAATACTGTTGCTGATCGG	0.388																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2293-2295)gTt>gGt		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						200	177	185					4																	94547520		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94547520T>G	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.2294T>G	4.37:g.94547520T>G	ENSP00000282020:p.Val765Gly					GRID2_ENST00000510992.1_Missense_Mutation_p.V670G	p.V765G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	14	2552	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	765					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.2294T>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906796	0.52333	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11604	2.76;2.76	5.13	5.13	0.70059	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.109275	0.64402	D	0.000006	T	0.11281	0.0275	L	0.34521	1.04	0.80722	D	1	B;B	0.20459	0.045;0.045	B;B	0.21917	0.037;0.037	T	0.05305	-1.0893	10	0.87932	D	0	.	15.2141	0.73250	0.0:0.0:0.0:1.0	.	670;765	E9PH24;O43424	.;GRID2_HUMAN	G	765;670	ENSP00000282020:V765G;ENSP00000421257:V670G	ENSP00000282020:V765G	V	+	2	0	GRID2	94766543	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.456000	0.60081	2.055000	0.61198	0.397000	0.26171	GTT		0.388	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			20	512	0	0	0	1	0	20	512					G	94547520	T	G	94547520	3	3	94	1	0	0	0	0	1	0	0	0	6802	1725	60	4	2348	4	GRID2	4	94547520	Missense_Mutation	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	170605	94547520	96606756	33	34068											
ODZ3	55714	broad.mit.edu	37	chr4	183673042	183673042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacacccgcagaatttatcGcccaaagtcacttacggggg	9	12	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:183673042G>A	ENST00000511685.1	+	20	3842	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	TENM3_ENST00000406950.2_Missense_Mutation_p.R1240H|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1240					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)										AGAATTTATCGCCCAAAGTCA	0.512																																						ENST00000511685.1																			0											c.(3718-3720)cGc>cAc		teneurin transmembrane protein 3							98	97	97					4																	183673042		1916	4121	6037	SO:0001583	missense	55714							g.chr4:183673042G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3719G>A	4.37:g.183673042G>A	ENSP00000424226:p.Arg1240His					TENM3_ENST00000406950.2_Missense_Mutation_p.R1240H|TENM3_ENST00000502950.1_3'UTR	p.R1240H							20	3842	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.3719G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393194	0.96009	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.91407	-2.84;-2.84	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.96818	0.8961	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.97440	1.0021	9	0.87932	D	0	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	1240	Q9P273	TEN3_HUMAN	H	1240	ENSP00000424226:R1240H;ENSP00000385276:R1240H	ENSP00000385276:R1240H	R	+	2	0	ODZ3	183910036	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.601000	0.98297	2.806000	0.96561	0.655000	0.94253	CGC		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	324	0	0	0	1	0	6	324					A	183673042	G	A	183673042	3	1	94	1	0	0	0	0	1	0	0	0	10878	1087	38	1	3793	1	ODZ3	4	183673042	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	89125522	183673042	7481234	34	34069											
FAT1	2195	broad.mit.edu	37	chr4	187510153	187510153	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcaaactgattgctgaattCgggcggtaacggtggtagct	13	7	1	2	rs367799188		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr4:187510153C>T	ENST00000441802.2	-	27	13569	c.13360G>A	c.(13360-13362)Gaa>Aaa	p.E4454K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4454					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E4454K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTGAATTCGGGCGGTAAC	0.527										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			1	Substitution - Missense(1)	p.E4454K(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(13360-13362)Gaa>Aaa		FAT atypical cadherin 1		C	LYS/GLU	0,3870		0,0,1935	237	239	238		13360	5.4	0.2	4		238	1,8265		0,1,4132	no	missense	FAT1	NM_005245.3	56	0,1,6067	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	4454/4589	187510153	1,12135	1935	4133	6068	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187510153C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13360G>A	4.37:g.187510153C>T	ENSP00000406229:p.Glu4454Lys	HNSCC(5;0.00058)					p.E4454K	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			27	13569	-			4454						Missense_Mutation	SNP	ENST00000441802.2	37	c.13360G>A	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688735|3.688735	0.68271|0.68271	0.0|0.0	1.21E-4|1.21E-4	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772;ENST00000507105	T|.	0.41400|.	1.0|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74107|0.74107	0.3673|0.3673	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.70999|0.70999	-0.4719|-0.4719	10|5	0.42905|.	T|.	0.14|.	.|.	19.3098|19.3098	0.94182|0.94182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4454|.	Q14517|.	FAT1_HUMAN|.	K|Q	4454;4456|233;221	ENSP00000406229:E4454K|.	ENSP00000260147:E4456K|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187747147|187747147	1.000000|1.000000	0.71417|0.71417	0.163000|0.163000	0.22734|0.22734	0.033000|0.033000	0.12548|0.12548	7.111000|7.111000	0.77077|0.77077	2.800000|2.800000	0.96347|0.96347	0.455000|0.455000	0.32223|0.32223	GAA|CGA		0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		25	903	0	0	0	1	0	25	903					T	187510153	C	T	187510153	3	4	94	1	0	0	0	0	1	0	0	0	5714	893	31	1	410	1	FAT1	4	187510153	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	3837111	187510153	3644123	35	34070											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596156	33596156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgcaatgggcagtttggCggcggatacctgggggtcag	17	7	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:33596156C>T	ENST00000504830.1	-	17	2872	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	846	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.R846H(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						GGCAGTTTGGCGGCGGATACC	0.517										HNSCC(64;0.19)																												ENST00000504830.1																			1	Substitution - Missense(1)	p.R846H(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2536-2538)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 12							120	110	113					5																	33596156		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596156C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2537G>A	5.37:g.33596156C>T	ENSP00000422554:p.Arg846His	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R761H|ADAMTS12_ENST00000504582.1_5'UTR	p.R846H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			17	2872	-			846			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2537G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010730	0.75046	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.52983	0.64;0.64	5.77	4.9	0.64082	.	0.196715	0.50627	D	0.000112	T	0.49541	0.1563	L	0.55990	1.75	0.80722	D	1	P;P	0.52577	0.463;0.954	B;P	0.48552	0.067;0.581	T	0.43442	-0.9391	10	0.16420	T	0.52	.	15.3406	0.74293	0.0:0.9327:0.0:0.0673	.	761;846	P58397-3;P58397	.;ATS12_HUMAN	H	846;761	ENSP00000422554:R846H;ENSP00000344847:R761H	ENSP00000344847:R761H	R	-	2	0	ADAMTS12	33631913	0.994000	0.37717	0.987000	0.45799	0.998000	0.95712	2.459000	0.45023	1.582000	0.49881	0.585000	0.79938	CGC		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		52	334	0	0	0	1	0	52	334					T	33596156	C	T	33596156	3	4	94	1	0	0	0	0	1	0	0	0	257	768	27	1	2279	1	ADAMTS12	5	33596156	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		33596156	147319104	36	34071											
FAT2	2196	broad.mit.edu	37	chr5	150923075	150923075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagtttctgcagagtgGcaatctggccattggggttt	13	8	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:150923075G>A	ENST00000261800.5	-	9	7625	c.7613C>T	c.(7612-7614)gCc>gTc	p.A2538V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2538	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)			CTGCAGAGTGGCAATCTGGCC	0.453																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(7612-7614)gCc>gTc		FAT atypical cadherin 2							152	155	154					5																	150923075		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923075G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7613C>T	5.37:g.150923075G>A	ENSP00000261800:p.Ala2538Val						p.A2538V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7625	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2538			Cadherin 22.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7613C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	4.277	0.050637	0.08243	.	.	ENSG00000086570	ENST00000261800	T	0.52295	0.67	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.271335	0.31660	N	0.007273	T	0.16938	0.0407	N	0.00960	-1.095	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.18209	-1.0344	10	0.15066	T	0.55	.	8.3401	0.32239	0.0774:0.0:0.7667:0.1559	.	2538	Q9NYQ8	FAT2_HUMAN	V	2538	ENSP00000261800:A2538V	ENSP00000261800:A2538V	A	-	2	0	FAT2	150903268	0.981000	0.34729	0.988000	0.46212	0.863000	0.49368	4.966000	0.63715	2.498000	0.84270	0.462000	0.41574	GCC		0.453	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		8	845	0	0	0	1	0	8	845					A	150923075	G	A	150923075	3	1	94	1	0	0	0	0	1	0	0	0	5715	1203	42	2	5496	2	FAT2	5	150923075	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	117326919	150923075	29992185	37	34072											
SGCD	6444	broad.mit.edu	37	chr5	155771593	155771593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatttatggctggcggaaacGatgcctgtatttctttgtcc	11	8	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr5:155771593G>A	ENST00000435422.3	+	2	582	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	32					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGGAAACGATGCCTGTAT	0.483																																						ENST00000435422.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(94-96)cGa>cAa		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							108	117	114					5																	155771593		1959	4133	6092	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:155771593G>A	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.95G>A	5.37:g.155771593G>A	ENSP00000403003:p.Arg32Gln					SGCD_ENST00000517913.1_Missense_Mutation_p.R33Q|SGCD_ENST00000447401.1_Missense_Mutation_p.R33Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R33Q	p.R32Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	582	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	32					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.95G>A	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	36	5.719233	0.96839	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.83275	0.992;0.986;0.996	D	0.95484	0.8563	10	0.25751	T	0.34	-9.9405	19.6056	0.95580	0.0:0.0:1.0:0.0	.	32;33;33	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	33;32;33;33	ENSP00000429378:R33Q;ENSP00000403003:R32Q;ENSP00000338343:R33Q;ENSP00000408324:R33Q	ENSP00000338343:R33Q	R	+	2	0	SGCD	155704171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.731000	0.98807	2.625000	0.88918	0.655000	0.94253	CGA		0.483	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			40	237	0	0	0	1	0	40	237					A	155771593	G	A	155771593	3	1	94	1	0	0	0	0	1	0	0	0	14251	1058	37	1	104	1	SGCD	5	155771593	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	4848518	155771593	25143667	38	34073											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtccaccccgacaccgGcatctcatccaaggccatgg	10	17	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:26199947G>A	ENST00000359985.1	+	1	200	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(160-162)gGc>gAc		histone cluster 1, H2bf							222	205	211					6																	26199947		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199947G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.161G>A	6.37:g.26199947G>A	ENSP00000353074:p.Gly54Asp						p.G54D	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	200	+		all_hematologic(11;0.196)	54					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.161G>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222980	0.58668	.	.	ENSG00000197846	ENST00000359985	T	0.69435	-0.4	3.89	3.89	0.44902	.	0.000000	0.42172	D	0.000755	T	0.73442	0.3587	.	.	.	0.41511	D	0.988346	.	.	.	.	.	.	T	0.78807	-0.2059	7	0.87932	D	0	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	D	54	ENSP00000353074:G54D	ENSP00000353074:G54D	G	+	2	0	HIST1H2BF	26307926	1.000000	0.71417	0.996000	0.52242	0.014000	0.08584	9.518000	0.98022	2.102000	0.63906	0.650000	0.86243	GGC		0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		7	855	0	0	0	1	0	7	855					A	26199947	G	A	26199947	3	1	94	1	0	0	0	0	1	0	0	0	7175	1203	42	2	163	2	HIST1H2BF	6	26199947	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		26199947	144915120	39	34074											
BTN2A2	10385	broad.mit.edu	37	chr6	26392774	26392774	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcctcagggaaacattactGggaggtggaggtggaaaacg	16	7	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:26392774G>A	ENST00000356709.4	+	8	1262	c.1151G>A	c.(1150-1152)tGg>tAg	p.W384*	BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.W174*|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.W384*|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.W268*	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	384	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						AAACATTACTGGGAGGTGGAG	0.572																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(1150-1152)tGg>tAg		butyrophilin, subfamily 2, member A2							139	128	132					6																	26392774		2203	4300	6503	SO:0001587	stop_gained	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26392774G>A	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.1151G>A	6.37:g.26392774G>A	ENSP00000349143:p.Trp384*					BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000352867.2_Nonsense_Mutation_p.W268*|BTN2A2_ENST00000482536.1_Nonsense_Mutation_p.W174*|BTN2A2_ENST00000416795.2_Nonsense_Mutation_p.W384*	p.W384*	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			8	1262	+			384			B30.2/SPRY.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Nonsense_Mutation	SNP	ENST00000356709.4	37	c.1151G>A	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	32	5.166959	0.94768	.	.	ENSG00000124508	ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000416795	.	.	.	3.92	3.92	0.45320	.	0.000000	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.825	0.63346	0.0:0.0:1.0:0.0	.	.	.	.	X	179;384;268;174;384	.	ENSP00000337117:W268X	W	+	2	0	BTN2A2	26500753	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.910000	0.48766	1.916000	0.55485	0.454000	0.30748	TGG		0.572	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			4	290	0	0	0	1	0	4	290					A	26392774	G	A	26392774	4	1	94	1	0	0	0	0	0	1	0	0	1565	1357	47	2	1177	2	BTN2A2	6	26392774	Nonsense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	192827	26392774	144722293	40	34075											
ZNF165	7718	broad.mit.edu	37	chr6	28056524	28056525	+	Frame_Shift_Del	DEL	AG	AG	-													aaaagaatcaggggagtctcAgagactctcgtctgcccagg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:28056524_28056525delAG	ENST00000377325.1	+	4	1290_1291	c.734_735delAG	c.(733-735)cagfs	p.Q245fs	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	245					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGAGTCTCAGAGACTCTCGT	0.446																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(733-735)cfs		zinc finger protein 165																																				SO:0001589	frameshift_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056524_28056525delAG	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"-", "Zinc fingers, C2H2-type"	12953	protein-coding gene	gene with protein product	"cancer/testis antigen 53"	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.734_735delAG	6.37:g.28056526_28056527delAG	ENSP00000366542:p.Gln245fs						p.Q245fs	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1290_1291	+			245						Frame_Shift_Del	DEL	ENST00000377325.1	37	c.734_735delAG	CCDS4643.1																																																																																				0.446	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		15	318						15	318	---	---	---	---	-	28056525	AG	-	28056524	7	5	94	1	0	1	0	1	0	0	0	0	17793	188	7	0	744	0	ZNF165	6	28056524	Frame_Shift_Del	DEL	AG	TCGA-IB-AAUO-01A-12D-A38G-08	1663750	28056524	143058543	41	34076											
NCR2	9436	broad.mit.edu	37	chr6	41318497	41318497	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccttcaacaggtcacGgaccttccctggacctcagt	8	16	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:41318497G>A	ENST00000373089.5	+	5	814	c.726G>A	c.(724-726)acG>acA	p.T242T	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	242					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					aacaggtcacggaccttccct	0.478																																						ENST00000373089.5																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14						c.(724-726)acG>acA		natural cytotoxicity triggering receptor 2							100	89	93					6																	41318497		2203	4300	6503	SO:0001819	synonymous_variant	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41318497G>A	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.726G>A	6.37:g.41318497G>A						NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR	p.T242T	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN			5	814	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		242					Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Silent	SNP	ENST00000373089.5	37	c.726G>A	CCDS4855.1																																																																																				0.478	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			7	205	0	0	0	1	0	7	205					A	41318497	G	A	41318497	2	1	94	1	0	0	0	0	0	0	0	1	10280	1103	39	1		1	NCR2	6	41318497	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	13261973	41318497	129796570	42	34077											
COQ3	51805	broad.mit.edu	37	chr6	99831606	99831606	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	attctgttcaaacaggaaaaGatcgtcctgtaggatttgaa	9	6	2	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:99831606G>A	ENST00000254759.3	-	2	225	c.201C>T	c.(199-201)atC>atT	p.I67I	COQ3_ENST00000369242.1_5'UTR|COQ3_ENST00000479163.1_5'UTR	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	67					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AACAGGAAAAGATCGTCCTGT	0.338																																						ENST00000254759.3																			0				cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8						c.(199-201)atC>atT		coenzyme Q3 methyltransferase							83	89	87					6																	99831606		2203	4299	6502	SO:0001819	synonymous_variant	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99831606G>A	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.201C>T	6.37:g.99831606G>A						COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_5'UTR	p.I67I	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	2	225	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	67					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Silent	SNP	ENST00000254759.3	37	c.201C>T	CCDS5042.1																																																																																				0.338	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		23	723	0	0	0	1	0	23	723					A	99831606	G	A	99831606	2	1	94	1	0	0	0	0	0	0	0	1	3755	932	33	2		2	COQ3	6	99831606	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	58513109	99831606	71283461	43	34078											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		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)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	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.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	688						7	688	---	---	---	---	T	129959603	-	T	129959602	7	5	94	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-IB-AAUO-01A-12D-A38G-08	30127996	129959602	41155465	44	34079											
TIAM2	26230	broad.mit.edu	37	chr6	155451469	155451469	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctttgttgaggatactgCgaagaaggactccctcaaag	11	9	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr6:155451469C>T	ENST00000461783.3	+	6	2385	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V	TIAM2_ENST00000360366.4_Missense_Mutation_p.A371V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A371V|TIAM2_ENST00000529824.2_Missense_Mutation_p.A371V|TIAM2_ENST00000318981.5_Missense_Mutation_p.A371V|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	371					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)		GAGGATACTGCGAAGAAGGAC	0.547																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1111-1113)gCg>gTg		T-cell lymphoma invasion and metastasis 2							72	70	71					6																	155451469		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155451469C>T		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.1112C>T	6.37:g.155451469C>T	ENSP00000437188:p.Ala371Val					TIAM2_ENST00000529824.2_Missense_Mutation_p.A371V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.A371V|TIAM2_ENST00000456144.1_Missense_Mutation_p.A371V|TIAM2_ENST00000360366.4_Missense_Mutation_p.A371V	p.A371V			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2385	+		Ovarian(120;0.196)	371					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1112C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126396	0.37533	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05382	3.57;3.45;3.51;3.57;3.57;3.51	5.29	5.29	0.74685	.	0.813614	0.11671	N	0.540830	T	0.03608	0.0103	L	0.40543	1.245	0.47407	D	0.999411	B	0.29909	0.261	B	0.19148	0.024	T	0.35276	-0.9795	10	0.59425	D	0.04	.	17.1487	0.86773	0.0:1.0:0.0:0.0	.	371	Q8IVF5	TIAM2_HUMAN	V	371;617;371;371;371;371;371	ENSP00000437188:A371V;ENSP00000434901:A371V;ENSP00000407746:A371V;ENSP00000327315:A371V;ENSP00000353528:A371V;ENSP00000433348:A371V	ENSP00000327315:A371V	A	+	2	0	TIAM2	155493161	0.002000	0.14202	0.364000	0.25888	0.430000	0.31655	1.419000	0.34793	2.489000	0.83994	0.655000	0.94253	GCG		0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		12	199	0	0	0	1	0	12	199					T	155451469	C	T	155451469	3	4	94	1	0	0	0	0	1	0	0	0	15943	768	27	1	1114	1	TIAM2	6	155451469	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	25491867	155451469	15663598	45	34080											
ZNF679	168417	broad.mit.edu	37	chr7	63720697	63720697	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatatagagatgtgatgttAgagaactacagaaacctggt	10	4	0	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	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						ATGTGATGTTAGAGAACTACA	0.378																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(136-138)ttA>ttG		zinc finger protein 679							47	42	44					7																	63720697		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720697A>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.138A>G	7.37:g.63720697A>G						ZNF679_ENST00000255746.4_Silent_p.L46L	p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			3	407	+			46			KRAB.			Silent	SNP	ENST00000421025.1	37	c.138A>G	CCDS47592.1																																																																																				0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		7	809	0	0	0	1	0	7	809					G	63720697	A	G	63720697	2	3	94	1	0	0	0	0	0	0	0	1	18139	417	15	4		4	ZNF679	7	63720697	Silent	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08		63720697	95417966	46	34081											
CDHR3	222256	broad.mit.edu	37	chr7	105673026	105673026	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgagctgagtggcaaagcGtgggctgaggatgctggtct	18	6	1	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:105673026G>A	ENST00000317716.9	+	19	2621	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A	CDHR3_ENST00000478080.1_Silent_p.A759A|CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000542731.1_Silent_p.A847A	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	847					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						GTGGCAAAGCGTGGGCTGAGG	0.577																																						ENST00000542731.1																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(2539-2541)gcG>gcA		cadherin-related family member 3							79	86	83					7																	105673026		2098	4238	6336	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105673026G>A	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.2541G>A	7.37:g.105673026G>A						CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Silent_p.A847A|CDHR3_ENST00000478080.1_Silent_p.A759A	p.A847A			Q6ZTQ4	CDHR3_HUMAN			19	2649	+			847					Q8TCI7	Silent	SNP	ENST00000317716.9	37	c.2541G>A	CCDS47684.1																																																																																				0.577	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		9	163	0	0	0	1	0	9	163					A	105673026	G	A	105673026	2	1	94	1	0	0	0	0	0	0	0	1	3129	1132	40	1		1	CDHR3	7	105673026	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	41952329	105673026	53465637	47	34082											
FLNC	2318	broad.mit.edu	37	chr7	128480725	128480725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcggctacgccatccctcGcaggtgagtaccttgcgccc	13	16	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:128480725G>A	ENST00000325888.8	+	10	1934	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	FLNC_ENST00000346177.6_Missense_Mutation_p.R558H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	558					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						GCCATCCCTCGCAGGTGAGTA	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1672-1674)cGc>cAc		filamin C, gamma							126	140	135					7																	128480725		2108	4216	6324	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128480725G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1673G>A	7.37:g.128480725G>A	ENSP00000327145:p.Arg558His					FLNC_ENST00000346177.6_Missense_Mutation_p.R558H	p.R558H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			10	1934	+			558					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1673G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708659	0.68615	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.91894	-2.93;-2.93	5.02	5.02	0.67125	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059561	0.64402	D	0.000004	D	0.94345	0.8182	L	0.53249	1.67	0.47183	D	0.999344	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.953	D	0.94549	0.7752	10	0.87932	D	0	.	12.2416	0.54546	0.0893:0.0:0.9107:0.0	.	558;558	Q14315-2;Q14315	.;FLNC_HUMAN	H	558	ENSP00000327145:R558H;ENSP00000344002:R558H	ENSP00000327145:R558H	R	+	2	0	FLNC	128267961	0.981000	0.34729	1.000000	0.80357	0.037000	0.13140	4.138000	0.58017	2.327000	0.79052	0.491000	0.48974	CGC		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			43	338	0	0	0	1	0	43	338					A	128480725	G	A	128480725	3	1	94	1	0	0	0	0	1	0	0	0	5960	1087	38	1	1711	1	FLNC	7	128480725	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	22807699	128480725	30657938	48	34083											
MRPS33	51650	broad.mit.edu	37	chr7	140710243	140710243	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagtccaagaaatcggagcGtctgcatgagttcagcgtaa	12	8	2	3	rs369862542		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr7:140710243G>A	ENST00000393008.3	-	2	346	c.191C>T	c.(190-192)aCg>aTg	p.T64M	MRPS33_ENST00000496958.1_Missense_Mutation_p.T64M|MRPS33_ENST00000467334.1_Missense_Mutation_p.T54M|MRPS33_ENST00000472343.1_5'Flank|MRPS33_ENST00000324787.5_Missense_Mutation_p.T64M|MRPS33_ENST00000469351.1_Missense_Mutation_p.T64M	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	64					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)					AAATCGGAGCGTCTGCATGAG	0.413																																						ENST00000393008.3																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(190-192)aCg>aTg		mitochondrial ribosomal protein S33		G	MET/THR,MET/THR	0,4406		0,0,2203	158	149	152		191,191	-4.8	0	7		152	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	MRPS33	NM_016071.3,NM_053035.2	81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	64/107,64/107	140710243	2,13004	2203	4300	6503	SO:0001583	missense	51650				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr7:140710243G>A	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.191C>T	7.37:g.140710243G>A	ENSP00000376732:p.Thr64Met					MRPS33_ENST00000469351.1_Missense_Mutation_p.T64M|MRPS33_ENST00000467334.1_Missense_Mutation_p.T54M|MRPS33_ENST00000496958.1_Missense_Mutation_p.T64M|MRPS33_ENST00000324787.5_Missense_Mutation_p.T64M	p.T64M	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN			2	346	-	Melanoma(164;0.00956)		64						Missense_Mutation	SNP	ENST00000393008.3	37	c.191C>T	CCDS5864.1	.	.	.	.	.	.	.	.	.	.	G	9.817	1.184686	0.21870	0.0	2.33E-4	ENSG00000090263	ENST00000544013;ENST00000393008;ENST00000324787;ENST00000496958;ENST00000469351;ENST00000467334	.	.	.	5.1	-4.84	0.03151	.	0.517024	0.23549	N	0.046999	T	0.20780	0.0500	N	0.16368	0.405	0.09310	N	0.999996	D	0.69078	0.997	P	0.56514	0.8	T	0.25363	-1.0134	9	0.28530	T	0.3	-2.3832	5.3	0.15773	0.4111:0.0:0.2195:0.3694	.	64	Q9Y291	RT33_HUMAN	M	64;64;64;64;64;54	.	ENSP00000320567:T64M	T	-	2	0	MRPS33	140356712	0.093000	0.21703	0.010000	0.14722	0.057000	0.15508	0.429000	0.21412	-0.574000	0.05990	0.467000	0.42956	ACG		0.413	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348878.1	NM_053035		61	307	0	0	0	1	0	61	307					A	140710243	G	A	140710243	3	1	94	1	0	0	0	0	1	0	0	0	9883	1145	40	1	137	1	MRPS33	7	140710243	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	12229518	140710243	18428420	49	34084											
ZHX2	22882	broad.mit.edu	37	chr8	123965170	123965170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccgaggtttaccggctcatcGaggtgactggccttgccagg	14	12	1	1	rs374724083		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:123965170G>A	ENST00000314393.4	+	3	2255	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	474	Required for interaction with NFYA.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCGGCTCATCGAGGTGACTGG	0.557																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1420-1422)Gag>Aag		zinc fingers and homeoboxes 2		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	87	86	87		1420	5.1	1	8		87	0,8600		0,0,4300	no	missense	ZHX2	NM_014943.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	474/838	123965170	1,13005	2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965170G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1420G>A	8.37:g.123965170G>A	ENSP00000314709:p.Glu474Lys						p.E474K	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2255	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		474			Required for interaction with NFYA.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1420G>A	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765980	0.31228	2.27E-4	0.0	ENSG00000178764	ENST00000314393	D	0.95949	-3.86	5.94	5.07	0.68467	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.102570	0.64402	D	0.000003	D	0.90106	0.6909	N	0.21448	0.665	0.80722	D	1	B	0.24043	0.096	B	0.20577	0.03	D	0.86463	0.1780	10	0.09843	T	0.71	-24.8951	15.4187	0.74995	0.0667:0.0:0.9333:0.0	.	474	Q9Y6X8	ZHX2_HUMAN	K	474	ENSP00000314709:E474K	ENSP00000314709:E474K	E	+	1	0	ZHX2	124034351	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	7.641000	0.83368	1.531000	0.49152	0.561000	0.74099	GAG		0.557	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	175	0	0	0	1	0	5	175					A	123965170	G	A	123965170	3	1	94	1	0	0	0	0	1	0	0	0	17729	1059	37	1	1422	1	ZHX2	8	123965170	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		123965170	22398852	50	34085											
BAI1	575	broad.mit.edu	37	chr8	143618425	143618425	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggggctccttccagaaCggccacgcccagctcatggt	12	15	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr8:143618425C>T	ENST00000517894.1	+	26	4542	c.3648C>T	c.(3646-3648)aaC>aaT	p.N1216N	BAI1_ENST00000323289.5_Silent_p.N1216N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1216					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)					CCTTCCAGAACGGCCACGCCC	0.692																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3646-3648)aaC>aaT		brain-specific angiogenesis inhibitor 1							26	34	32					8																	143618425		2078	4197	6275	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143618425C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3648C>T	8.37:g.143618425C>T						BAI1_ENST00000323289.5_Silent_p.N1216N	p.N1216N			O14514	BAI1_HUMAN			26	4542	+	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)		1216						Silent	SNP	ENST00000517894.1	37	c.3648C>T																																																																																					0.692	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	47	0	0	0	1	0	4	47					T	143618425	C	T	143618425	2	4	94	1	0	0	0	0	0	0	0	1	1299	535	19	1		1	BAI1	8	143618425	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	19653255	143618425	2745597	51	34086											
ARID3C	138715	broad.mit.edu	37	chr9	34622033	34622033	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataccagtgtagaccaccccGttgatctctagggccatgtt	9	12	1	2	rs563083593		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:34622033G>A	ENST00000378909.2	-	6	1214	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	DCTN3_ENST00000341694.2_5'Flank|DCTN3_ENST00000447983.2_5'Flank|DCTN3_ENST00000378913.2_5'Flank|DCTN3_ENST00000259632.7_5'Flank|DCTN3_ENST00000378916.4_5'Flank|DCTN3_ENST00000477738.2_5'Flank	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	374	Pro-rich.|REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.				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)		AGACCACCCCGTTGATCTCTA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17709	0.0		0.0	False		,,,				2504	0.0					ENST00000378909.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14						c.(1120-1122)aaC>aaT		AT rich interactive domain 3C (BRIGHT-like)							153	128	136					9																	34622033		2203	4300	6503	SO:0001819	synonymous_variant	138715				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:34622033G>A		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.1122C>T	9.37:g.34622033G>A							p.N374N	NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)	6	1214	-	all_epithelial(49;0.102)		374			Pro-rich.|REKLES.			Silent	SNP	ENST00000378909.2	37	c.1122C>T	CCDS35006.1																																																																																				0.552	ARID3C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348265.1	XM_071061		42	300	0	0	0	1	0	42	300					A	34622033	G	A	34622033	2	1	94	1	0	0	0	0	0	0	0	1	918	1136	40	1		1	ARID3C	9	34622033	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		34622033	106591398	52	34087											
TRPM6	140803	broad.mit.edu	37	chr9	77390934	77390934	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtggtaggtcatgatgtagcGatagcggttgtatttccaca	13	6	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:77390934G>A	ENST00000360774.1	-	24	3505	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1090C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1090					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						ATGATGTAGCGATAGCGGTTG	0.493																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(3268-3270)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 6							118	127	124					9																	77390934		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77390934G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3268C>T	9.37:g.77390934G>A	ENSP00000354006:p.Arg1090Cys					TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1090C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1090C|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1085C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1085C	p.R1090C			Q9BX84	TRPM6_HUMAN			24	3505	-			1090					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3268C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120843	0.94385	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.55588	0.6;0.6;0.6;0.6;0.51	5.76	5.76	0.90799	.	0.046412	0.85682	D	0.000000	T	0.72779	0.3503	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67900	0.932;0.931;0.954	T	0.74426	-0.3669	10	0.87932	D	0	.	19.9561	0.97218	0.0:0.0:1.0:0.0	.	1090;1085;1085	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	C	1090;1090;1085;1085;1090;753;753	ENSP00000354006:R1090C;ENSP00000407341:R1090C;ENSP00000396672:R1085C;ENSP00000354962:R1085C;ENSP00000366060:R1090C	ENSP00000309693:R753C	R	-	1	0	TRPM6	76580754	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.827000	0.86722	2.725000	0.93324	0.591000	0.81541	CGC		0.493	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		12	420	0	0	0	1	0	12	420					A	77390934	G	A	77390934	3	1	94	1	0	0	0	0	1	0	0	0	16643	1058	37	1	2864	1	TRPM6	9	77390934	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	42768901	77390934	63822497	53	34088											
OR1N2	138882	broad.mit.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	10	10	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	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																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(709-711)cGc>cAc		olfactory receptor, family 1, subfamily N, member 2							252	239	243					9																	125316158		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316158G>A		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						p.R237H	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	768	+			237		R -> C (in dbSNP:rs41316976).			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.710G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	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		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			5	513	0	0	0	1	0	5	513					A	125316158	G	A	125316158	3	1	94	1	0	0	0	0	1	0	0	0	11012	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	47925224	125316158	15897273	54	34089											
COL5A1	1289	broad.mit.edu	37	chr9	137709638	137709638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcagggtcccccaggcccCgcaggccccgaaggcagaca	12	17	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:137709638C>T	ENST00000371817.3	+	54	4605	c.4191C>T	c.(4189-4191)ccC>ccT	p.P1397P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1397	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)		CCCCAGGCCCCGCAGGCCCCG	0.657																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(4189-4191)ccC>ccT		collagen, type V, alpha 1							86	76	79					9																	137709638		2200	4300	6500	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137709638C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4191C>T	9.37:g.137709638C>T							p.P1397P	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	54	4605	+		Myeloproliferative disorder(178;0.0341)	1397			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4191C>T	CCDS6982.1																																																																																				0.657	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		11	46	0	0	0	1	0	11	46					T	137709638	C	T	137709638	2	4	94	1	0	0	0	0	0	0	0	1	3705	639	23	1		1	COL5A1	9	137709638	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	12393480	137709638	3503793	55	34090											
SNAPC4	6621	broad.mit.edu	37	chr9	139289824	139289824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggggcaggcttttgcCatctttcaccttggtgcctt	12	11	2	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr9:139289824C>T	ENST00000298532.2	-	4	765	c.397G>A	c.(397-399)Ggc>Agc	p.G133S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGGCTTTTGCCATCTTTCACC	0.567																																						ENST00000298532.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(397-399)Ggc>Agc		small nuclear RNA activating complex, polypeptide 4, 190kDa							114	102	106					9																	139289824		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139289824C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.397G>A	9.37:g.139289824C>T	ENSP00000298532:p.Gly133Ser						p.G133S	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	4	765	-		Myeloproliferative disorder(178;0.0511)	133			SNAPC5-binding.			Missense_Mutation	SNP	ENST00000298532.2	37	c.397G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	6.565	0.472500	0.12461	.	.	ENSG00000165684	ENST00000298532	T	0.28255	1.62	5.35	-2.81	0.05805	.	1.072810	0.07153	N	0.849409	T	0.25791	0.0628	L	0.48362	1.52	0.09310	N	0.999994	B	0.28378	0.209	B	0.22880	0.042	T	0.25012	-1.0144	10	0.52906	T	0.07	-3.3704	10.5123	0.44868	0.0:0.4466:0.0:0.5534	.	133	Q5SXM2	SNPC4_HUMAN	S	133	ENSP00000298532:G133S	ENSP00000298532:G133S	G	-	1	0	SNAPC4	138409645	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.062000	0.11674	-0.992000	0.03472	-1.074000	0.02243	GGC		0.567	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		9	274	0	0	0	1	0	9	274					T	139289824	C	T	139289824	3	4	94	1	0	0	0	0	1	0	0	0	14887	594	21	2	4088	2	SNAPC4	9	139289824	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	1580186	139289824	1923607	56	34091											
DIP2C	22982	broad.mit.edu	37	chr10	410376	410376	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggccacgatgtcgtcggcGttgtgcctgcgcccgctgac	15	14	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:410376G>A	ENST00000280886.6	-	20	2502	c.2415C>T	c.(2413-2415)aaC>aaT	p.N805N	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.N126N	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	805						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)		TGTCGTCGGCGTTGTGCCTGC	0.602																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(2413-2415)aaC>aaT		DIP2 disco-interacting protein 2 homolog C (Drosophila)							78	76	76					10																	410376		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:410376G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2415C>T	10.37:g.410376G>A						DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Silent_p.N126N	p.N805N	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	20	2502	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	805					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.2415C>T	CCDS7054.1																																																																																				0.602	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		59	263	0	0	0	1	0	59	263					A	410376	G	A	410376	2	1	94	1	0	0	0	0	0	0	0	1	4545	1136	40	1		1	DIP2C	10	410376	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		410376	135124371	57	34092											
KIAA1217	56243	broad.mit.edu	37	chr10	24831899	24831899	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgatgcatcaagaacatcaGaatataaaactgagatcata	6	7	3	4			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:24831899G>T	ENST00000376454.3	+	19	3730	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376451.2_Nonsense_Mutation_p.E917*|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1234					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						AAGAACATCAGAATATAAAAC	0.413																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2749-2751)Gaa>Taa		KIAA1217							41	41	41					10																	24831899		2203	4300	6503	SO:0001587	stop_gained	56243				embryonic skeletal system development	cytoplasm		g.chr10:24831899G>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3700G>T	10.37:g.24831899G>T	ENSP00000365637:p.Glu1234*					KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.E1234*|KIAA1217_ENST00000458595.1_Intron	p.E917*			Q5T5P2	SKT_HUMAN			14	3009	+			1234					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Nonsense_Mutation	SNP	ENST00000376454.3	37	c.2749G>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	42	9.260198	0.99117	.	.	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	.	.	.	5.42	4.5	0.54988	.	0.360938	0.28062	N	0.016754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	15.1525	0.72713	0.0:0.1417:0.8583:0.0	.	.	.	.	X	917;1234;917;917	.	ENSP00000365634:E917X	E	+	1	0	KIAA1217	24871905	0.993000	0.37304	0.790000	0.31976	0.868000	0.49771	2.681000	0.46926	1.264000	0.44198	0.561000	0.74099	GAA		0.413	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		41	152	1	0	2.6416e-12	1	2.84915e-12	41	152					T	24831899	G	T	24831899	4	4	94	1	0	0	0	0	0	1	0	0	8246	943	33	3	3774	3	KIAA1217	10	24831899	Nonsense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	24421523	24831899	110702848	58	34093											
ALOX5	240	broad.mit.edu	37	chr10	45878098	45878098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctaccgctggatcaccggCgatgtcgaggttgtcctgag	14	11	1	1	rs150281723	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:45878098C>T	ENST00000374391.2	+	2	371	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALOX5_ENST00000542434.1_Silent_p.G106G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	106	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)	p.G106G(1)		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)	GGATCACCGGCGATGTCGAGG	0.592													C|||	12	0.00239617	0.0	0.0	5008	,	,		20608	0.0109		0.0	False		,,,				2504	0.001					ENST00000374391.2																			1	Substitution - coding silent(1)	p.G106G(1)	large_intestine(1)	breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(316-318)ggC>ggT		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	C		0,4406		0,0,2203	61	50	54		318	-7.7	0.1	10	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	ALOX5	NM_000698.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		106/675	45878098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45878098C>T	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.318C>T	10.37:g.45878098C>T						ALOX5_ENST00000542434.1_Silent_p.G106G	p.G106G	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			2	371	+		Lung SC(717;0.0257)	106			PLAT.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	ENST00000374391.2	37	c.318C>T	CCDS7212.1																																																																																				0.592	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			14	93	0	0	0	1	0	14	93					T	45878098	C	T	45878098	2	4	94	1	0	0	0	0	0	0	0	1	540	755	27	1		1	ALOX5	10	45878098	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	21046199	45878098	89656649	59	34094											
RTKN2	219790	broad.mit.edu	37	chr10	63958149	63958149	+	Frame_Shift_Del	DEL	T	T	-													ctgcccatttgtctcttcaaTttttttttgtattatatccg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:63958149delT	ENST00000373789.3	-	12	1444	c.1348delA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		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)					GTCTCTTCAATTTTTTTTTGT	0.333																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)ttfs		rhotekin 2							60	64	63					10																	63958149		2202	4299	6501	SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958149delT	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.1348delA	10.37:g.63958149delT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs	p.I450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Del	DEL	ENST00000373789.3	37	c.1348delA	CCDS7263.1																																																																																				0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		7	403						7	403	---	---	---	---	-	63958149	T	-	63958149	7	5	94	1	0	1	0	1	0	0	0	0	13773	1493	52	0	485	0	RTKN2	10	63958149	Frame_Shift_Del	DEL	T	TCGA-IB-AAUO-01A-12D-A38G-08	18080051	63958149	71576598	60	34095											
CDH23	414152	broad.mit.edu	37	chr10	73492028	73492028	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgggtactgagattgtgCgggtccaggcctactccatc	12	12	0	1	rs373276722	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:73492028C>T	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Missense_Mutation_p.R1339W	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											TGAGATTGTGCGGGTCCAGGC	0.562													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		21644	0.0		0.0	False		,,,				2504	0.0					ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(4015-4017)Cgg>Tgg		cadherin-related 23		C	TRP/ARG,TRP/ARG,	1,4113		0,1,2056	69	70	70		4000,4000,	3.8	1	10		70	0,8408		0,0,4204	no	missense,missense,intron	CDH23,C10orf105	NM_001171930.1,NM_022124.5,NM_001168390.1	101,101,	0,1,6260	TT,TC,CC		0.0,0.0243,0.0080	probably-damaging,probably-damaging,	1334/1382,1334/3355,	73492028	1,12521	2057	4204	6261	SO:0001627	intron_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73492028C>T	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5456G>A	10.37:g.73492028C>T						C10orf105_ENST00000398786.2_Intron	p.R1339W	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			31	4020	+			1334			Cadherin 13.			Missense_Mutation	SNP	ENST00000398786.2	37	c.4015C>T	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826680	0.90955	2.43E-4	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.81	3.83	0.44106	Cadherin (3);Cadherin-like (1);	0.069495	0.64402	D	0.000014	T	0.76140	0.3946	M	0.78049	2.395	0.80722	D	1	D;D;D	0.69078	0.995;0.989;0.997	P;P;P	0.61722	0.873;0.776;0.893	T	0.79838	-0.1634	9	0.66056	D	0.02	.	15.0962	0.72235	0.1418:0.8581:0.0:0.0	.	155;1334;1334	E7ERT0;Q6P152;Q9H251	.;.;CAD23_HUMAN	W	1339;1334;1337;155	.	ENSP00000224721:R1339W	R	+	1	2	CDH23	73162034	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.930000	0.48924	2.654000	0.90174	0.561000	0.74099	CGG		0.562	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		4	100	0	0	0	1	0	4	100					T	73492028	C	T	73492028	1	4	94	0	1	0	0	0	0	0	0	0	3117	759	27	1		1	CDH23	10	73492028	Intron	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	9533879	73492028	62042719	61	34096											
PKD2L1	9033	broad.mit.edu	37	chr10	102057186	102057186	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcattgtagactgagaagtcGatgaacaccactcgagtgcc	11	10	0	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:102057186G>A	ENST00000318222.3	-	5	1291	c.909C>T	c.(907-909)atC>atT	p.I303I	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.I303I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	303					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGAGAAGTCGATGAACACCA	0.567																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(907-909)atC>atT		polycystic kidney disease 2-like 1							85	86	85					10																	102057186		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057186G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.909C>T	10.37:g.102057186G>A						PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Silent_p.I303I	p.I303I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1291	-		Colorectal(252;0.117)	303					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.909C>T	CCDS7492.1																																																																																				0.567	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		37	278	0	0	0	1	0	37	278					A	102057186	G	A	102057186	2	1	94	1	0	0	0	0	0	0	0	1	12009	1048	37	1		1	PKD2L1	10	102057186	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	28565158	102057186	33477561	62	34097											
C10orf82	143379	broad.mit.edu	37	chr10	118425205	118425205	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgacaggtttcagtttcgggGcagtggccactgcgcagcac	14	11	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr10:118425205G>C	ENST00000369210.3	-	3	242	c.188C>G	c.(187-189)gCc>gGc	p.A63G	C10orf82_ENST00000588184.1_Missense_Mutation_p.A63G	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	63										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CAGTTTCGGGGCAGTGGCCAC	0.562																																						ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(187-189)gCc>gGc		chromosome 10 open reading frame 82							116	106	109					10																	118425205		2203	4300	6503	SO:0001583	missense	143379							g.chr10:118425205G>C	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.188C>G	10.37:g.118425205G>C	ENSP00000358212:p.Ala63Gly					C10orf82_ENST00000588184.1_Missense_Mutation_p.A63G	p.A63G	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	3	242	-			63					B3KUM9|D3DRC3	Missense_Mutation	SNP	ENST00000369210.3	37	c.188C>G	CCDS7596.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146601	0.57044	.	.	ENSG00000165863	ENST00000369210;ENST00000388884	T	0.64260	-0.09	5.16	4.25	0.50352	.	0.715143	0.13142	N	0.410531	T	0.66015	0.2747	M	0.65975	2.015	0.09310	N	1	P;D	0.56521	0.884;0.976	B;P	0.49085	0.42;0.6	T	0.57106	-0.7868	10	0.49607	T	0.09	-4.1516	9.7479	0.40457	0.096:0.0:0.904:0.0	.	63;63	Q8WW14-3;Q8WW14	.;CJ082_HUMAN	G	63	ENSP00000358212:A63G	ENSP00000358212:A63G	A	-	2	0	C10orf82	118415195	0.014000	0.17966	0.010000	0.14722	0.031000	0.12232	1.748000	0.38308	1.161000	0.42604	0.561000	0.74099	GCC		0.562	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		50	254	0	0	0	1	0	50	254					C	118425205	G	C	118425205	3	2	94	1	0	0	0	0	1	0	0	0	1625	1203	42	5	288	5	C10orf82	10	118425205	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	16368019	118425205	17109542	63	34098											
MUC5B	727897	broad.mit.edu	37	chr11	1268340	1268340	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctcctcaactccAgggacaactcccatcccccc	3	23	1	0	rs368194612		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:1268340A>T	ENST00000529681.1	+	31	10288	c.10230A>T	c.(10228-10230)ccA>ccT	p.P3410P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3413P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10237-10239)ccA>ccT		mucin 5B, oligomeric mucus/gel-forming							148	179	169					11																	1268340		2112	4168	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268340A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10230A>T	11.37:g.1268340A>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P	p.P3413P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10297	+		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)	3410	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10239A>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	28	0	0	0	1	0	3	28					T	1268340	A	T	1268340	2	4	94	1	0	0	0	0	0	0	0	1	10020	175	7	5		5	MUC5B	11	1268340	Silent	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08		1268340	133738176	64	34099											
PHF21A	51317	broad.mit.edu	37	chr11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-													gctgcagctgactgctgggcGtggtggtggtggtactgctg					rs372037631		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:46001356_46001358delGTG	ENST00000418153.2	-	6	512_514	c.313_315delCAC	c.(313-315)cacdel	p.H105del	PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del|PHF21A_ENST00000257821.4_In_Frame_Del_p.H105del			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(313-315)del		PHD finger protein 21A																																				SO:0001651	inframe_deletion	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001356_46001358delGTG	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.313_315delCAC	11.37:g.46001365_46001367delGTG	ENSP00000398824:p.His105del					PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	936_938	-			105			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	In_Frame_Del	DEL	ENST00000418153.2	37	c.313_315delCAC	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		7	342						7	342	---	---	---	---	-	46001358	GTG	-	46001356	7	5	94	1	0	1	0	1	0	0	0	0	11875	1136	40	0	1809	0	PHF21A	11	46001356	In_Frame_Del	DEL	GTG	TCGA-IB-AAUO-01A-12D-A38G-08	44733016	46001356	89005160	65	34100											
ATL3	25923	broad.mit.edu	37	chr11	63420049	63420050	+	Splice_Site	INS	-	-	A													catcagaacaactgcaacctINSaaaaaaaaggaaaatacaaa							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:63420049_63420050insA	ENST00000398868.3	-	4	682		c.e4-2		RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000332645.4_Splice_Site|ATL3_ENST00000538786.1_Splice_Site	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGGA	0.371																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.e4-2		atlastin GTPase 3																																				SO:0001630	splice_region_variant	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63420049_63420050insA		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.406-2->T	11.37:g.63420057_63420057dupA						ATL3_ENST00000332645.4_Splice_Site|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Splice_Site		NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN			4	682	-								Q8N7W5|Q9H8Q5|Q9UFL1	Splice_Site	INS	ENST00000398868.3	37		CCDS41663.1																																																																																				0.371	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	Intron	7	284						7	284	---	---	---	---	A	63420050	-	A	63420049	8	5	94	1	0	1	1	0	0	0	1	0	1109	1536	53	0	1261	0	ATL3	11	63420049	Splice_Site	INS	-	TCGA-IB-AAUO-01A-12D-A38G-08	17418693	63420049	71586467	66	34101											
C11orf70	85016	broad.mit.edu	37	chr11	101953816	101953816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcaggattctgctggtatGtgctatccttcagcaaagaa	9	8	3	1	rs181449558		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:101953816G>A	ENST00000434758.2	+	7	718	c.690G>A	c.(688-690)atG>atA	p.M230I		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	230										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTGCTGGTATGTGCTATCCTT	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		12078	0.0		0.001	False		,,,				2504	0.0					ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(688-690)atG>atA		chromosome 11 open reading frame 70		G	ILE/MET	0,4406		0,0,2203	147	137	141		690	4	1	11		141	8,8590	6.4+/-24.3	0,8,4291	yes	missense	C11orf70	NM_032930.2	10	0,8,6494	AA,AG,GG		0.093,0.0,0.0615	benign	230/268	101953816	8,12996	2203	4299	6502	SO:0001583	missense	85016							g.chr11:101953816G>A	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.690G>A	11.37:g.101953816G>A	ENSP00000414390:p.Met230Ile						p.M230I	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	7	718	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	230					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.690G>A	CCDS8313.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.29	1.310068	0.23821	0.0	9.3E-4	ENSG00000137691	ENST00000434758;ENST00000423732	.	.	.	5.85	3.99	0.46301	.	0.448291	0.26062	N	0.026578	T	0.46600	0.1401	L	0.50333	1.59	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.36578	-0.9742	9	0.23891	T	0.37	0.0275	7.5577	0.27833	0.1437:0.0:0.7203:0.1361	.	230	Q9BRQ4	CK070_HUMAN	I	230;192	.	ENSP00000392150:M192I	M	+	3	0	C11orf70	101459026	0.991000	0.36638	0.996000	0.52242	0.588000	0.36517	0.758000	0.26447	1.487000	0.48415	0.585000	0.79938	ATG		0.294	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		114	442	0	0	0	1	0	114	442					A	101953816	G	A	101953816	3	1	94	1	0	0	0	0	1	0	0	0	1664	1377	48	2	598	2	C11orf70	11	101953816	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	38533767	101953816	33052700	67	34102											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027117	103027117	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggatattttgtgttaaatagGatttaaatagtcgggcacaa	10	3	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:103027117G>T	ENST00000375735.2	+	26	3889	c.3745G>T	c.(3745-3747)Gat>Tat	p.D1249Y	DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249Y|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	1249	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)		TGTTAAATAGGATTTAAATAG	0.284																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.e26-1		dynein, cytoplasmic 2, heavy chain 1							29	29	29					11																	103027117		1811	4071	5882	SO:0001630	splice_region_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027117G>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3745-1G>T	11.37:g.103027117G>T						DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249_splice|DYNC2H1_ENST00000334267.7_Intron	p.D1249_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	3889	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1249			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Splice_Site	SNP	ENST00000375735.2	37	c.3744_splice	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300875	0.60195	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.62639	0.01;0.01	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.197764	0.33895	N	0.004459	T	0.76140	0.3946	M	0.88181	2.935	0.80722	D	1	B;B	0.33171	0.4;0.348	B;B	0.43123	0.409;0.301	T	0.76817	-0.2819	9	.	.	.	.	18.8855	0.92376	0.0:0.0:1.0:0.0	.	1249;1249	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	Y	1249	ENSP00000364887:D1249Y;ENSP00000381167:D1249Y	.	D	+	1	0	DYNC2H1	102532327	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.376000	0.79658	2.472000	0.83506	0.563000	0.77884	GAT		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	Missense_Mutation	21	102	1	0	2.70639e-06	1	2.89834e-06	21	102					T	103027117	G	T	103027117	5	4	94	1	0	0	0	0	0	0	1	0	4862	1188	41	3	3847	3	DYNC2H1	11	103027117	Splice_Site	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	1073301	103027117	31979399	68	34103											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451075	110451075	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttatgttgtttcttTgaataaattcccctgagata	7	6	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:110451075T>C	ENST00000260283.4	-	16	2879	c.2595A>G	c.(2593-2595)tcA>tcG	p.S865S	ARHGAP20_ENST00000524756.1_Silent_p.S842S|ARHGAP20_ENST00000528829.1_Silent_p.S829S|ARHGAP20_ENST00000529591.1_Silent_p.S408S|ARHGAP20_ENST00000357139.3_Silent_p.S839S|ARHGAP20_ENST00000533353.1_Silent_p.S839S|ARHGAP20_ENST00000527598.1_Silent_p.S829S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	865					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)		GTTGTTTCTTTGAATAAATTC	0.493																																						ENST00000260283.4																			0				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						c.(2593-2595)tcA>tcG		Rho GTPase activating protein 20							108	107	107					11																	110451075		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451075T>C	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.2595A>G	11.37:g.110451075T>C						ARHGAP20_ENST00000529591.1_Silent_p.S408S|ARHGAP20_ENST00000528829.1_Silent_p.S829S|ARHGAP20_ENST00000524756.1_Silent_p.S842S|ARHGAP20_ENST00000527598.1_Silent_p.S829S|ARHGAP20_ENST00000533353.1_Silent_p.S839S|ARHGAP20_ENST00000357139.3_Silent_p.S839S	p.S865S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		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)	16	2879	-		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)	865					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.2595A>G	CCDS31673.1																																																																																				0.493	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		108	476	0	0	0	1	0	108	476					C	110451075	T	C	110451075	2	2	94	1	0	0	0	0	0	0	0	1	870	1799	63	4		4	ARHGAP20	11	110451075	Silent	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	7423958	110451075	24555441	69	34104											
SIK2	23235	broad.mit.edu	37	chr11	111594482	111594482	+	Frame_Shift_Del	DEL	T	T	-													tgcagcttcagcccctgcccTccacttccggtccccgggct							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:111594482delT	ENST00000304987.3	+	15	2583	c.2410delT	c.(2410-2412)tccfs	p.S804fs		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	804					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						GCCCCTGCCCTCCACTTCCGG	0.672																																						ENST00000304987.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						c.(2410-2412)ccfs		salt-inducible kinase 2							127	137	134					11																	111594482		2201	4297	6498	SO:0001589	frameshift_variant	23235				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:111594482delT	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.2410delT	11.37:g.111594482delT	ENSP00000305976:p.Ser804fs						p.S804fs	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN			15	2583	+			804					A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Frame_Shift_Del	DEL	ENST00000304987.3	37	c.2410delT	CCDS8347.1																																																																																				0.672	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191		7	918						7	918	---	---	---	---	-	111594482	T	-	111594482	7	5	94	1	0	1	0	1	0	0	0	0	14368	1551	54	0	2468	0	SIK2	11	111594482	Frame_Shift_Del	DEL	T	TCGA-IB-AAUO-01A-12D-A38G-08	1143407	111594482	23412034	70	34105											
ZBTB16	7704	broad.mit.edu	37	chr11	114027126	114027126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggttcctggatagtttgCggctgagaatgcacttactg	13	8	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:114027126C>T	ENST00000335953.4	+	3	1716	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R446W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	446					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)		GGATAGTTTGCGGCTGAGAAT	0.547																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1336-1338)Cgg>Tgg		zinc finger and BTB domain containing 16							163	122	136					11																	114027126		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114027126C>T	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.1336C>T	11.37:g.114027126C>T	ENSP00000338157:p.Arg446Trp					ZBTB16_ENST00000392996.2_Missense_Mutation_p.R446W	p.R446W	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	3	1716	+		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)	446					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1336C>T	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389876	0.82902	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.15372	2.43;2.43	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.38134	0.1029	M	0.62723	1.935	0.51767	D	0.999937	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.10245	-1.0638	10	0.72032	D	0.01	-2.7332	13.0927	0.59174	0.1603:0.8397:0.0:0.0	.	446;451	Q05516;Q59H43	ZBT16_HUMAN;.	W	446;446;323	ENSP00000338157:R446W;ENSP00000376721:R446W	ENSP00000309507:R323W	R	+	1	2	ZBTB16	113532336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.419000	0.66435	2.500000	0.84329	0.655000	0.94253	CGG		0.547	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		4	215	0	0	0	1	0	4	215					T	114027126	C	T	114027126	3	4	94	1	0	0	0	0	1	0	0	0	17579	759	27	1	1342	1	ZBTB16	11	114027126	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	2432644	114027126	20979390	71	34106											
DPAGT1	1798	broad.mit.edu	37	chr11	118972344	118972344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgatcagcagcggcatggGcaattccgagaaggcccaca	12	11	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:118972344G>A	ENST00000409993.2	-	3	1573	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.P8S			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	8					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGCGGCATGGGCAATTCCGAG	0.632											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(22-24)Ccc>Tcc		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							63	65	64					11																	118972344		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118972344G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.22C>T	11.37:g.118972344G>A	ENSP00000386597:p.Pro8Ser		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.P8S	p.P8S			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	3	1573	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	8					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.22C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884783	0.51908	.	.	ENSG00000172269	ENST00000409993;ENST00000354202	D;D	0.91011	-2.77;-2.77	4.79	3.87	0.44632	.	0.000000	0.85682	D	0.000000	T	0.80628	0.4659	N	0.19112	0.55	0.80722	D	1	P	0.35174	0.488	B	0.27380	0.079	T	0.78725	-0.2092	10	0.27082	T	0.32	-2.6285	12.3966	0.55389	0.0:0.0:0.8312:0.1688	.	8	Q9H3H5	GPT_HUMAN	S	8	ENSP00000386597:P8S;ENSP00000346142:P8S	ENSP00000346142:P8S	P	-	1	0	DPAGT1	118477554	.	.	0.973000	0.42090	0.691000	0.40173	.	.	1.602000	0.50124	0.655000	0.94253	CCC		0.632	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		5	287	0	0	0	1	0	5	287					A	118972344	G	A	118972344	3	1	94	1	0	0	0	0	1	0	0	0	4726	1203	42	2	1240	2	DPAGT1	11	118972344	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	4945218	118972344	16034172	72	34107											
KIRREL3	84623	broad.mit.edu	37	chr11	126432761	126432761	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccgaaacttgtccttggcCatgtagcccagcaccagaca	8	15	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:126432761C>T	ENST00000525144.2	-	2	351	c.102G>A	c.(100-102)atG>atA	p.M34I	KIRREL3_ENST00000525704.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000529097.2_Missense_Mutation_p.M34I|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000533026.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	34					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)		TGTCCTTGGCCATGTAGCCCA	0.547																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(100-102)atG>atA		kin of IRRE like 3 (Drosophila)							122	116	118					11																	126432761		1947	4141	6088	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126432761C>T	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.102G>A	11.37:g.126432761C>T	ENSP00000435466:p.Met34Ile					KIRREL3_ENST00000533026.2_5'UTR|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000529097.2_Missense_Mutation_p.M34I|KIRREL3_ENST00000525704.2_Missense_Mutation_p.M34I	p.M34I	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	2	351	-	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)	34					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.102G>A	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017523	0.54576	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.70516	-0.49;-0.26;-0.35	5.62	5.62	0.85841	.	0.078542	0.53938	D	0.000046	T	0.54255	0.1847	N	0.08118	0	0.80722	D	1	B;B;B	0.26547	0.048;0.152;0.077	B;B;B	0.26614	0.025;0.071;0.019	T	0.52719	-0.8538	10	0.37606	T	0.19	.	17.8583	0.88773	0.0:1.0:0.0:0.0	.	34;34;34	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	I	34	ENSP00000435466:M34I;ENSP00000434081:M34I;ENSP00000435094:M34I	ENSP00000435466:M34I	M	-	3	0	KIRREL3	125937971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.770000	0.62309	2.645000	0.89757	0.650000	0.86243	ATG		0.547	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		31	206	0	0	0	1	0	31	206					T	126432761	C	T	126432761	3	4	94	1	0	0	0	0	1	0	0	0	8356	594	21	2	2405	2	KIRREL3	11	126432761	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	7460417	126432761	8573755	73	34108											
PRDM10	56980	broad.mit.edu	37	chr11	129772249	129772251	+	In_Frame_Del	DEL	TGG	TGG	-													ttcgctgcttccgttcccgtTggtggtggtggtgatgatgt							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr11:129772249_129772251delTGG	ENST00000360871.3	-	21	3659_3661	c.3428_3430delCCA	c.(3427-3432)accaac>aac	p.T1143del	PRDM10_ENST00000528746.1_In_Frame_Del_p.T1104del|PRDM10_ENST00000526082.1_In_Frame_Del_p.T1061del|PRDM10_ENST00000423662.2_In_Frame_Del_p.T1048del|PRDM10_ENST00000304538.6_In_Frame_Del_p.T1010del|PRDM10_ENST00000358825.5_In_Frame_Del_p.T1147del	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1134					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)		CCGTTCCCGTTGGTGGTGGTGGT	0.547																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(3439-3444)aac>a		PR domain containing 10																																				SO:0001651	inframe_deletion	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129772249_129772251delTGG	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.3428_3430delCCA	11.37:g.129772258_129772260delTGG	ENSP00000354118:p.Thr1143del					PRDM10_ENST00000304538.6_In_Frame_Del_p.TN1010del|PRDM10_ENST00000526082.1_In_Frame_Del_p.TN1061del|PRDM10_ENST00000423662.2_In_Frame_Del_p.TN1048del|PRDM10_ENST00000360871.3_In_Frame_Del_p.TN1143del|PRDM10_ENST00000528746.1_In_Frame_Del_p.TN1104del	p.TN1147del	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	22	3671_3673	-	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)	1134					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	In_Frame_Del	DEL	ENST00000360871.3	37	c.3440_3442delCCA	CCDS8484.1																																																																																				0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	672						7	672	---	---	---	---	-	129772251	TGG	-	129772249	7	5	94	1	0	1	0	1	0	0	0	0	12498	1812	63	0	44	0	PRDM10	11	129772249	In_Frame_Del	DEL	TGG	TCGA-IB-AAUO-01A-12D-A38G-08	3339488	129772249	5234267	74	34109											
ACSM4	341392	broad.mit.edu	37	chr12	7469871	7469871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattgggttcaccctctgCggaaggtagggaagaaaatt	14	7	2	1	rs200562081		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:7469871C>T	ENST00000399422.4	+	4	807	c.759C>T	c.(757-759)tgC>tgT	p.C253C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	253					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TCACCCTCTGCGGAAGGTAGG	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(757-759)tgC>tgT		acyl-CoA synthetase medium-chain family member 4		C		0,3840		0,0,1920	31	33	32		759	-0.3	1	12		32	1,8221		0,1,4110	no	coding-synonymous	ACSM4	NM_001080454.1		0,1,6030	TT,TC,CC		0.0122,0.0,0.0083		253/581	7469871	1,12061	1920	4111	6031	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7469871C>T		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.759C>T	12.37:g.7469871C>T							p.C253C	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			4	807	+			253					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.759C>T	CCDS44825.1																																																																																				0.463	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		7	26	0	0	0	1	0	7	26					T	7469871	C	T	7469871	2	4	94	1	0	0	0	0	0	0	0	1	186	776	27	1		1	ACSM4	12	7469871	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		7469871	126382024	75	34110											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		50	227	0	0	0	1	0	50	227					T	25398284	C	T	25398284	3	4	94	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	17928413	25398284	108453611	76	34111											
SSH1	54434	broad.mit.edu	37	chr12	109186420	109186420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagggggtctgagagtcgcCggaaacagcaggggaggggg	22	6	1	1	rs146699038	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:109186420C>T	ENST00000326495.5	-	14	1628	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	SSH1_ENST00000360239.3_Missense_Mutation_p.R200Q|SSH1_ENST00000551165.1_Missense_Mutation_p.R512Q|SSH1_ENST00000326470.5_Missense_Mutation_p.R523Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	512					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAGAGTCGCCGGAAACAGCA	0.637													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15695	0.0		0.0	False		,,,				2504	0.0					ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1534-1536)cGg>cAg		slingshot protein phosphatase 1		C	GLN/ARG,GLN/ARG,GLN/ARG	8,4394		0,8,2193	31	38	36		1535,1568,1535	4.6	0.8	12	dbSNP_134	36	0,8594		0,0,4297	yes	missense,missense,missense	SSH1	NM_001161330.1,NM_001161331.1,NM_018984.3	43,43,43	0,8,6490	TT,TC,CC		0.0,0.1817,0.0616	probably-damaging,probably-damaging,probably-damaging	512/693,523/704,512/1050	109186420	8,12988	2201	4297	6498	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109186420C>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1535G>A	12.37:g.109186420C>T	ENSP00000315713:p.Arg512Gln					SSH1_ENST00000326470.5_Missense_Mutation_p.R523Q|SSH1_ENST00000551165.1_Missense_Mutation_p.R512Q|SSH1_ENST00000360239.3_Missense_Mutation_p.R200Q	p.R512Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			14	1628	-			512					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1535G>A	CCDS9121.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.68	2.607225	0.46527	0.001817	0.0	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.15834	2.39;2.4;2.49;2.46	5.48	4.6	0.57074	.	3.113600	0.01024	N	0.004037	T	0.23054	0.0557	M	0.71581	2.175	0.39015	D	0.959636	P;B;P;P	0.39624	0.681;0.218;0.569;0.681	B;B;B;B	0.26614	0.071;0.016;0.07;0.071	T	0.39563	-0.9608	10	0.37606	T	0.19	-25.6956	12.894	0.58089	0.0:0.9248:0.0:0.0752	.	523;512;512;200	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	Q	200;512;512;523	ENSP00000353374:R200Q;ENSP00000315713:R512Q;ENSP00000448824:R512Q;ENSP00000326107:R523Q	ENSP00000326107:R523Q	R	-	2	0	SSH1	107710549	0.990000	0.36364	0.815000	0.32552	0.069000	0.16628	2.653000	0.46691	1.460000	0.47911	-0.136000	0.14681	CGG		0.637	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		7	254	0	0	0	1	0	7	254					T	109186420	C	T	109186420	3	4	94	1	0	0	0	0	1	0	0	0	15236	652	23	1	1808	1	SSH1	12	109186420	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	83788136	109186420	24665475	77	34112											
GPR133	283383	broad.mit.edu	37	chr12	131476784	131476784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgccaatttctttcagatGcccacagatgcctaccatcc	6	14	2	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr12:131476784G>A	ENST00000261654.5	+	8	1372	c.813G>A	c.(811-813)atG>atA	p.M271I	GPR133_ENST00000535015.1_Missense_Mutation_p.M303I|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	271					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTCAGATGCCCACAGATG	0.393																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(811-813)atG>atA		G protein-coupled receptor 133							176	194	188					12																	131476784		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476784G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.813G>A	12.37:g.131476784G>A	ENSP00000261654:p.Met271Ile					GPR133_ENST00000535015.1_Missense_Mutation_p.M303I|RP11-76C10.5_ENST00000542980.1_lincRNA	p.M271I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1372	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		271					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.813G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	2.052	-0.417574	0.04766	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.38887	1.11;1.11	5.62	2.61	0.31194	.	1.491050	0.03428	N	0.207351	T	0.30727	0.0774	L	0.29908	0.895	0.22081	N	0.999377	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16512	-1.0400	10	0.27785	T	0.31	.	3.881	0.09079	0.1601:0.1364:0.5778:0.1257	.	303;271	B7ZLF7;Q6QNK2	.;GP133_HUMAN	I	271;211;303;30	ENSP00000261654:M271I;ENSP00000444425:M303I	ENSP00000261654:M271I	M	+	3	0	GPR133	130042737	0.174000	0.23070	0.228000	0.23943	0.043000	0.13939	0.405000	0.21015	1.350000	0.45770	0.655000	0.94253	ATG		0.393	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		24	944	0	0	0	1	0	24	944					A	131476784	G	A	131476784	3	1	94	1	0	0	0	0	1	0	0	0	6672	1319	46	2	843	2	GPR133	12	131476784	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	22290364	131476784	2375111	78	34113											
ESD	2098	broad.mit.edu	37	chr13	47354112	47354112	+	Frame_Shift_Del	DEL	T	T	-													cccaaatatccactaaaggcTtttttgccccagggacagag							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr13:47354112delT	ENST00000378720.3	-	8	740	c.558delA	c.(556-558)aaafs	p.K186fs	ESD_ENST00000495654.1_5'UTR|ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN	esterase D	186					formaldehyde catabolic process (GO:0046294)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carboxylic ester hydrolase activity (GO:0052689)|hydrolase activity, acting on ester bonds (GO:0016788)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)|S-formylglutathione hydrolase activity (GO:0018738)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CACTAAAGGCTTTTTTGCCCC	0.353																																						ENST00000378720.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(556-558)aafs		esterase D	Glutathione(DB00143)						102	103	102					13																	47354112		2203	4300	6503	SO:0001589	frameshift_variant	2098					cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity	g.chr13:47354112delT	M13450	CCDS9404.1	13q14.1-q14.2	2014-05-13	2010-05-07		ENSG00000139684	ENSG00000139684	3.1.2.12		3465	protein-coding gene	gene with protein product	"S-formylglutathione hydrolase"	133280	"esterase D/formylglutathione hydrolase"				Standard	NM_001984		Approved		uc001vbn.3	P10768	OTTHUMG00000016878	ENST00000378720.3:c.558delA	13.37:g.47354112delT	ENSP00000367992:p.Lys186fs					ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR	p.K186fs	NM_001984.1	NP_001975.1	P10768	ESTD_HUMAN		GBM - Glioblastoma multiforme(144;2.66e-05)	8	740	-		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	186					Q5TBU8|Q5TBV0|Q5TBV2|Q9BVJ2	Frame_Shift_Del	DEL	ENST00000378720.3	37	c.558delA	CCDS9404.1																																																																																				0.353	ESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044826.1			7	805						7	805	---	---	---	---	-	47354112	T	-	47354112	7	5	94	1	0	1	0	1	0	0	0	0	5268	1606	56	0	302	0	ESD	13	47354112	Frame_Shift_Del	DEL	T	TCGA-IB-AAUO-01A-12D-A38G-08		47354112	67815766	79	34114											
FSCB	84075	broad.mit.edu	37	chr14	44974339	44974339	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgaacttcagcgggggCctcctcagctggtggaggct	16	11	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:44974339C>T	ENST00000340446.4	-	1	2143	c.1852G>A	c.(1852-1854)Gcc>Acc	p.A618T	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	618	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)		TCAGCGGGGGCCTCCTCAGCT	0.617																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1852-1854)Gcc>Acc		fibrous sheath CABYR binding protein							9	10	10					14																	44974339		2110	4184	6294	SO:0001583	missense	84075					cilium		g.chr14:44974339C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1852G>A	14.37:g.44974339C>T	ENSP00000344579:p.Ala618Thr						p.A618T	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2143	-			618			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1852G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.976988	0.34848	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14144	2.53	4.95	-4.64	0.03349	.	.	.	.	.	T	0.08223	0.0205	L	0.40543	1.245	0.09310	N	1	P	0.41848	0.763	B	0.40009	0.316	T	0.10989	-1.0606	9	0.33940	T	0.23	-0.0988	0.4709	0.00532	0.3443:0.2681:0.1394:0.2481	.	618	Q5H9T9	FSCB_HUMAN	T	618;511	ENSP00000344579:A618T	ENSP00000344579:A618T	A	-	1	0	FSCB	44044089	0.000000	0.05858	0.000000	0.03702	0.169000	0.22640	-4.571000	0.00214	-1.155000	0.02822	0.650000	0.86243	GCC		0.617	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		6	118	0	0	0	1	0	6	118					T	44974339	C	T	44974339	3	4	94	1	0	0	0	0	1	0	0	0	6093	739	26	2	629	2	FSCB	14	44974339	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		44974339	62375201	80	34115											
SEL1L	6400	broad.mit.edu	37	chr14	81950645	81950645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgttgctgctcagaaGccagacggtaatgaataaat	10	8	1	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:81950645G>A	ENST00000336735.4	-	19	2086	c.1970C>T	c.(1969-1971)gCt>gTt	p.A657V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	657	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTGCTCAGAAGCCAGACGGTA	0.428																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(1969-1971)gCt>gTt		sel-1 suppressor of lin-12-like (C. elegans)							253	246	249					14																	81950645		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950645G>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1970C>T	14.37:g.81950645G>A	ENSP00000337053:p.Ala657Val						p.A657V	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2086	-			657			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1970C>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	G	36	5.610409	0.96637	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.65178	-0.14	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85191	0.5640	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87620	0.2509	10	0.87932	D	0	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	657	Q9UBV2	SE1L1_HUMAN	V	657;18	ENSP00000337053:A657V	ENSP00000261258:A18V	A	-	2	0	SEL1L	81020398	1.000000	0.71417	0.916000	0.36221	0.980000	0.70556	9.335000	0.96500	2.809000	0.96659	0.557000	0.71058	GCT		0.428	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		46	1225	0	0	0	1	0	46	1225					A	81950645	G	A	81950645	3	1	94	1	0	0	0	0	1	0	0	0	14060	971	34	2	426	2	SEL1L	14	81950645	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	36976306	81950645	25398895	81	34116											
CHGA	1113	broad.mit.edu	37	chr14	93396099	93396099	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcagcagaagaaacacagCggttttgaagatgaactctc	9	9	2	5	rs150929444	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr14:93396099C>A	ENST00000216492.5	+	5	574	c.294C>A	c.(292-294)agC>agA	p.S98R	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Missense_Mutation_p.S98R	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	98					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)		AGAAACACAGCGGTTTTGAAG	0.542																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(292-294)agC>agA		chromogranin A (parathyroid secretory protein 1)							73	73	73					14																	93396099		2203	4300	6503	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93396099C>A		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.294C>A	14.37:g.93396099C>A	ENSP00000216492:p.Ser98Arg					CHGA_ENST00000334654.4_Missense_Mutation_p.S98R|CHGA_ENST00000553866.1_3'UTR	p.S98R	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	5	574	+		all_cancers(154;0.0843)	98					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.294C>A	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	C	8.843	0.942786	0.18281	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.07021	4.56;3.23	4.78	1.53	0.23141	.	0.334049	0.33382	N	0.004968	T	0.09468	0.0233	L	0.53249	1.67	0.09310	N	0.999998	B;P	0.36162	0.057;0.54	B;B	0.40677	0.028;0.337	T	0.14392	-1.0474	10	0.41790	T	0.15	-6.3264	5.9182	0.19067	0.1371:0.545:0.0:0.3179	.	98;98	G5E968;P10645	.;CMGA_HUMAN	R	98	ENSP00000216492:S98R;ENSP00000334023:S98R	ENSP00000216492:S98R	S	+	3	2	CHGA	92465852	0.008000	0.16893	0.012000	0.15200	0.675000	0.39556	0.091000	0.15046	0.466000	0.27193	-0.221000	0.12465	AGC		0.542	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		19	197	1	0	1.56452e-12	1	1.69959e-12	19	197					A	93396099	C	A	93396099	3	1	94	1	0	0	0	0	1	0	0	0	3347	767	27	3	312	3	CHGA	14	93396099	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	11445454	93396099	13953441	82	34117											
PLCB2	5330	broad.mit.edu	37	chr15	40581489	40581489	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgcttttccatctccCgtatctgttccaggcaagcc	6	15	2	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:40581489C>G	ENST00000260402.3	-	31	3587	c.3338G>C	c.(3337-3339)cGg>cCg	p.R1113P	PLCB2_ENST00000557821.1_Missense_Mutation_p.R1109P|PLCB2_ENST00000456256.2_Missense_Mutation_p.R1098P	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1113					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCCATCTCCCGTATCTGTTC	0.582																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(3337-3339)cGg>cCg		phospholipase C, beta 2							143	152	149					15																	40581489		1956	4138	6094	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40581489C>G		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3338G>C	15.37:g.40581489C>G	ENSP00000260402:p.Arg1113Pro					PLCB2_ENST00000456256.2_Missense_Mutation_p.R1098P|PLCB2_ENST00000557821.1_Missense_Mutation_p.R1109P	p.R1113P	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	31	3587	-		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)	1113					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.3338G>C	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852673	0.51270	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.45668	0.89;0.89	5.05	-0.161	0.13371	PLC-beta, C-terminal (1);	0.561271	0.17537	N	0.170673	T	0.33177	0.0854	N	0.22421	0.69	0.80722	D	1	P;B;P	0.37122	0.523;0.451;0.583	P;B;P	0.46299	0.509;0.333;0.511	T	0.06180	-1.0841	10	0.33141	T	0.24	.	8.7765	0.34765	0.0:0.4418:0.0:0.5582	.	1098;1109;1113	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	P	1113;1098	ENSP00000260402:R1113P;ENSP00000411991:R1098P	ENSP00000260402:R1113P	R	-	2	0	PLCB2	38368781	0.889000	0.30405	0.991000	0.47740	0.983000	0.72400	-0.086000	0.11233	-0.207000	0.10187	0.561000	0.74099	CGG		0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			11	386	0	0	0	1	0	11	386					G	40581489	C	G	40581489	3	3	94	1	0	0	0	0	1	0	0	0	12070	652	23	5	227	5	PLCB2	15	40581489	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		40581489	61949903	83	34118											
DUOX1	53905	broad.mit.edu	37	chr15	45433521	45433521	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaggagattgaagaaatcCgaaataccaccctgcaggac	10	9	0	4	rs564683577		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:45433521C>T	ENST00000321429.4	+	15	2004	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R179*|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R533*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	533	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAAGAAATCCGAAATACCAC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20235	0.0		0.0	False		,,,				2504	0.0					ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(1597-1599)Cga>Tga		dual oxidase 1							115	106	109					15																	45433521		2198	4298	6496	SO:0001587	stop_gained	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45433521C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1597C>T	15.37:g.45433521C>T	ENSP00000317997:p.Arg533*					DUOX1_ENST00000389037.3_Nonsense_Mutation_p.R533*|DUOX1_ENST00000561166.1_Nonsense_Mutation_p.R179*	p.R533*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	15	2004	+		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)	533			Peroxidase-like; mediates peroxidase activity.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	ENST00000321429.4	37	c.1597C>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	C	37	6.140306	0.97320	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	.	.	.	4.53	2.15	0.27550	.	0.095326	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0907	10.5604	0.45142	0.4411:0.5589:0.0:0.0	.	.	.	.	X	533	.	ENSP00000317997:R533X	R	+	1	2	DUOX1	43220813	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	2.572000	0.45999	0.336000	0.23639	-0.271000	0.10264	CGA		0.527	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	272	0	0	0	1	0	11	272					T	45433521	C	T	45433521	4	4	94	1	0	0	0	0	0	1	0	0	4816	644	23	1	1647	1	DUOX1	15	45433521	Nonsense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	4852032	45433521	57097871	84	34119											
IDH2	3418	broad.mit.edu	37	chr15	90630448	90630448	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgtcatcaatgagcCggtgctcataccagatctta	7	13	4	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr15:90630448C>A	ENST00000330062.3	-	7	976	c.863G>T	c.(862-864)cGg>cTg	p.R288L	IDH2_ENST00000559482.1_Missense_Mutation_p.R179L|IDH2_ENST00000539790.1_Missense_Mutation_p.R158L|IDH2_ENST00000540499.2_Missense_Mutation_p.R236L	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	288					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)			ATCAATGAGCCGGTGCTCATA	0.527			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"socitrate dehydrogenase 2 (NADP+), mitochondrial "			M			GBM		0				biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(862-864)cGg>cTg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							131	124	126					15																	90630448		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90630448C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.863G>T	15.37:g.90630448C>A	ENSP00000331897:p.Arg288Leu		OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1276	IDH2_ENST00000559482.1_Missense_Mutation_p.R179L|IDH2_ENST00000539790.1_Missense_Mutation_p.R158L|IDH2_ENST00000540499.2_Missense_Mutation_p.R236L	p.R288L	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		7	976	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		288					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.863G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476860	0.84640	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	T;T;T	0.76316	-1.01;-1.01;-1.01	5.73	5.73	0.89815	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.92661	0.6141	10	0.87932	D	0	.	17.3795	0.87401	0.0:1.0:0.0:0.0	.	288;288	Q53GL5;P48735	.;IDHP_HUMAN	L	288;158;236	ENSP00000331897:R288L;ENSP00000438457:R158L;ENSP00000446147:R236L	ENSP00000331897:R288L	R	-	2	0	IDH2	88431452	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	7.786000	0.85741	2.709000	0.92574	0.491000	0.48974	CGG		0.527	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			6	233	1	0	0.00198382	1	0.00205176	6	233					A	90630448	C	A	90630448	3	1	94	1	0	0	0	0	1	0	0	0	7525	652	23	3	515	3	IDH2	15	90630448	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	45196927	90630448	11900944	85	34120											
TMC7	79905	broad.mit.edu	37	chr16	19049313	19049313	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctggctgttttagggGcatgcttttatgcaatatac	10	6	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:19049313G>A	ENST00000304381.5	+	8	1253	c.1123G>A	c.(1123-1125)Gca>Aca	p.A375T	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000421369.3_Missense_Mutation_p.A265T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	375					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGTTTTAGGGGCATGCTTTTA	0.398																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(793-795)Gca>Aca		transmembrane channel-like 7							219	188	199					16																	19049313		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19049313G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1123G>A	16.37:g.19049313G>A	ENSP00000304710:p.Ala375Thr					TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Missense_Mutation_p.A375T|TMC7_ENST00000304381.5_Missense_Mutation_p.A375T	p.A265T	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			8	1351	+			375					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.793G>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328730	0.41197	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.55052	0.54;0.54	5.5	3.44	0.39384	.	0.355140	0.27866	N	0.017521	T	0.44644	0.1303	L	0.52011	1.625	0.09310	N	1	B;B	0.33549	0.417;0.417	B;B	0.34093	0.175;0.133	T	0.46512	-0.9186	10	0.56958	D	0.05	.	9.7628	0.40543	0.0746:0.0:0.7848:0.1405	.	375;375	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	375;265	ENSP00000304710:A375T;ENSP00000397081:A265T	ENSP00000304710:A375T	A	+	1	0	TMC7	18956814	0.841000	0.29509	0.039000	0.18376	0.474000	0.32979	3.975000	0.56859	2.588000	0.87417	0.650000	0.86243	GCA		0.398	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		6	637	0	0	0	1	0	6	637					A	19049313	G	A	19049313	3	1	94	1	0	0	0	0	1	0	0	0	16042	1203	42	2	1153	2	TMC7	16	19049313	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		19049313	71305440	86	34121											
IRX5	10265	broad.mit.edu	37	chr16	54966435	54966435	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccctacgaccacacacccgGcatggcgggctccttggggt	12	16	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:54966435G>A	ENST00000394636.4	+	2	612	c.275G>A	c.(274-276)gGc>gAc	p.G92D	IRX5_ENST00000558597.1_Missense_Mutation_p.G26D|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.G92D|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	92					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						CACACACCCGGCATGGCGGGC	0.652																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(274-276)gGc>gAc		iroquois homeobox 5							43	49	47					16																	54966435		2198	4300	6498	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966435G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.275G>A	16.37:g.54966435G>A	ENSP00000378132:p.Gly92Asp					IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Missense_Mutation_p.G26D|IRX5_ENST00000320990.5_Missense_Mutation_p.G92D	p.G92D			P78411	IRX5_HUMAN			2	612	+			92					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.275G>A	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805678	0.70682	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.62639	0.02;0.01	4.68	4.68	0.58851	.	0.051954	0.85682	D	0.000000	T	0.78735	0.4330	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81278	-0.1005	10	0.66056	D	0.02	-12.7714	12.9719	0.58517	0.0:0.1639:0.8361:0.0	.	92	P78411	IRX5_HUMAN	D	92	ENSP00000378132:G92D;ENSP00000316250:G92D	ENSP00000316250:G92D	G	+	2	0	IRX5	53523936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.497000	0.97970	2.423000	0.82170	0.655000	0.94253	GGC		0.652	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			5	217	0	0	0	1	0	5	217					A	54966435	G	A	54966435	3	1	94	1	0	0	0	0	1	0	0	0	7877	1203	42	2	281	2	IRX5	16	54966435	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	35917122	54966435	35388318	87	34122											
WWP2	11060	broad.mit.edu	37	chr16	69969883	69969883	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctacaactccattgtctGgatcaagtgagttccctgcc	8	12	3	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:69969883G>A	ENST00000359154.2	+	18	2071	c.1970G>A	c.(1969-1971)tGg>tAg	p.W657*	WWP2_ENST00000448661.1_Nonsense_Mutation_p.W657*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W218*|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000356003.2_Nonsense_Mutation_p.W657*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W541*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	657	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCATTGTCTGGATCAAGTGA	0.542																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1969-1971)tGg>tAg		WW domain containing E3 ubiquitin protein ligase 2							143	130	134					16																	69969883		2198	4300	6498	SO:0001587	stop_gained	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69969883G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1970G>A	16.37:g.69969883G>A	ENSP00000352069:p.Trp657*					WWP2_ENST00000356003.2_Nonsense_Mutation_p.W657*|WWP2_ENST00000448661.1_Nonsense_Mutation_p.W657*|WWP2_ENST00000542271.1_Nonsense_Mutation_p.W541*|WWP2_ENST00000568684.1_Nonsense_Mutation_p.W218*|WWP2_ENST00000544162.1_3'UTR	p.W657*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			18	2071	+			657			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	ENST00000359154.2	37	c.1970G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	39	7.554393	0.98355	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.7	5.7	0.88788	.	0.105878	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.843	0.96697	0.0:0.0:1.0:0.0	.	.	.	.	X	657;218;657;657;544;541	.	.	W	+	2	0	WWP2	68527384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	TGG		0.542	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		82	346	0	0	0	1	0	82	346					A	69969883	G	A	69969883	4	1	94	1	0	0	0	0	0	1	0	0	17470	1357	47	2	2040	2	WWP2	16	69969883	Nonsense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	15003448	69969883	20384870	88	34123											
ADAMTS18	170692	broad.mit.edu	37	chr16	77317969	77317969	+	Splice_Site	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atctacgcaggatggatcctCtaaaataagaaaatatattt	6	6	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:77317969C>G	ENST00000282849.5	-	23	3969		c.e23-1		RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18						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						GATGGATCCTCTAAAATAAGA	0.398																																						ENST00000282849.5																			0				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						c.e23-1		ADAM metallopeptidase with thrombospondin type 1 motif, 18							106	100	102					16																	77317969		2198	4300	6498	SO:0001630	splice_region_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77317969C>G	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.3551-1G>C	16.37:g.77317969C>G						RP11-538I12.3_ENST00000561672.1_RNA		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			23	3969	-								Q6P4R5|Q6ZWJ9	Splice_Site	SNP	ENST00000282849.5	37		CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894540	0.72639	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS18	75875470	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	7.188000	0.77739	2.814000	0.96858	0.655000	0.94253	.		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		Intron	35	238	0	0	0	1	0	35	238					G	77317969	C	G	77317969	5	3	94	1	0	0	0	0	0	0	1	0	263	927	32	5	119	5	ADAMTS18	16	77317969	Splice_Site	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	7348086	77317969	13036784	89	34124											
KLHL36	79786	broad.mit.edu	37	chr16	84684525	84684525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcggccatacaagatcagcGaatcatcaaaggtctgtgaa	9	10	4	2	rs79842977	byFrequency	TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr16:84684525G>A	ENST00000564996.1	+	2	193	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	KLHL36_ENST00000258157.5_Missense_Mutation_p.E18K	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	18					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAAGATCAGCGAATCATCAAA	0.438													G|||	10	0.00199681	0.0	0.0	5008	,	,		21088	0.0099		0.0	False		,,,				2504	0.0					ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(52-54)Gaa>Aaa		kelch-like family member 36		G	LYS/GLU	1,4397	2.1+/-5.4	0,1,2198	129	117	121		52	5.3	1	16	dbSNP_131	121	0,8600		0,0,4300	yes	missense	KLHL36	NM_024731.2	56	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	18/617	84684525	1,12997	2199	4300	6499	SO:0001583	missense	79786							g.chr16:84684525G>A	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.52G>A	16.37:g.84684525G>A	ENSP00000456743:p.Glu18Lys					KLHL36_ENST00000258157.5_Missense_Mutation_p.E18K	p.E18K	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			2	193	+			18					Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.52G>A	CCDS10948.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	17.23	3.337157	0.60963	2.27E-4	0.0	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.73152	-0.72	5.27	5.27	0.74061	BTB/POZ fold (1);	0.194262	0.44097	D	0.000482	T	0.45054	0.1323	N	0.19112	0.55	0.80722	D	1	P;B	0.40638	0.725;0.251	B;B	0.35182	0.197;0.022	T	0.53194	-0.8473	10	0.08599	T	0.76	.	17.8744	0.88821	0.0:0.0:1.0:0.0	.	18;18	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	K	18	ENSP00000258157:E18K	ENSP00000258157:E18K	E	+	1	0	KLHL36	83242026	1.000000	0.71417	0.993000	0.49108	0.742000	0.42306	7.690000	0.84178	2.456000	0.83038	0.561000	0.74099	GAA		0.438	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			13	270	0	0	0	1	0	13	270					A	84684525	G	A	84684525	3	1	94	1	0	0	0	0	1	0	0	0	8419	1059	37	1	54	1	KLHL36	16	84684525	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	7366556	84684525	5670228	90	34125											
WSCD1	23302	broad.mit.edu	37	chr17	6023840	6023840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggagggcagcttccgGcggcgcggccggcgctccca	16	15	0	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:6023840G>A	ENST00000574946.1	+	9	1977	c.1587G>A	c.(1585-1587)cgG>cgA	p.R529R	WSCD1_ENST00000539421.1_Silent_p.R529R|WSCD1_ENST00000573634.1_Silent_p.R413R|WSCD1_ENST00000317744.5_Silent_p.R529R|WSCD1_ENST00000574232.1_Silent_p.R529R			Q658N2	WSCD1_HUMAN	WSC domain containing 1	529						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						GCAGCTTCCGGCGGCGCGGCC	0.647																																						ENST00000574946.1																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1585-1587)cgG>cgA		WSC domain containing 1							58	60	59					17																	6023840		2202	4300	6502	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6023840G>A		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.1587G>A	17.37:g.6023840G>A						WSCD1_ENST00000573634.1_Silent_p.R413R|WSCD1_ENST00000574232.1_Silent_p.R529R|WSCD1_ENST00000539421.1_Silent_p.R529R|WSCD1_ENST00000317744.5_Silent_p.R529R	p.R529R			Q658N2	WSCD1_HUMAN			9	1977	+			529					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.1587G>A	CCDS32538.1																																																																																				0.647	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		65	168	0	0	0	1	0	65	168					A	6023840	G	A	6023840	2	1	94	1	0	0	0	0	0	0	0	1	17460	1190	42	2		2	WSCD1	17	6023840	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		6023840	75171370	91	34126											
SLC47A1	55244	broad.mit.edu	37	chr17	19458922	19458922	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctctgcactggcaAacttgatttcccagtacacc	8	14	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:19458922A>G	ENST00000270570.4	+	8	744	c.658A>G	c.(658-660)Aac>Gac	p.N220D	SLC47A1_ENST00000457293.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000575023.1_Intron|SNORA59B_ENST00000458926.1_RNA|SLC47A1_ENST00000395585.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N197D|SLC47A1_ENST00000542886.1_Missense_Mutation_p.K187R|SLC47A1_ENST00000571335.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	220					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	TGCACTGGCAAACTTGATTTC	0.527																																						ENST00000270570.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(658-660)Aac>Gac		solute carrier family 47 (multidrug and toxin extrusion), member 1							119	112	115					17																	19458922		2203	4300	6503	SO:0001583	missense	55244					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19458922A>G		CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.658A>G	17.37:g.19458922A>G	ENSP00000270570:p.Asn220Asp					SLC47A1_ENST00000457293.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.N220D|SLC47A1_ENST00000542886.1_Missense_Mutation_p.K187R|SLC47A1_ENST00000436810.2_Missense_Mutation_p.N197D|SLC47A1_ENST00000575023.1_Intron	p.N220D	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN			8	744	+	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)		220					Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	ENST00000270570.4	37	c.658A>G	CCDS11209.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.34|14.34	2.506537|2.506537	0.44558|0.44558	.|.	.|.	ENSG00000142494|ENSG00000142494	ENST00000542886|ENST00000436810;ENST00000270570;ENST00000457293;ENST00000395585	.|T;T;T;T	.|0.32272	.|1.51;1.46;1.46;1.46	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.082064	.|0.85682	.|D	.|0.000000	T|T	0.50257|0.50257	0.1605|0.1605	H|H	0.95260|0.95260	3.645|3.645	0.32301|0.32301	N|N	0.565074|0.565074	.|B;B;B	.|0.33238	.|0.403;0.059;0.04	.|B;B;B	.|0.34873	.|0.191;0.067;0.078	T|T	0.69109|0.69109	-0.5232|-0.5232	6|10	0.14656|0.66056	T|D	0.56|0.02	-5.1336|-5.1336	14.5405|14.5405	0.67990|0.67990	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|197;220;220	.|E7EX57;Q96FL8;Q96FL8-3	.|.;S47A1_HUMAN;.	R|D	187|197;220;220;220	.|ENSP00000407155:N197D;ENSP00000270570:N220D;ENSP00000415586:N220D;ENSP00000378951:N220D	ENSP00000440435:K187R|ENSP00000270570:N220D	K|N	+|+	2|1	0|0	SLC47A1|SLC47A1	19399514|19399514	1.000000|1.000000	0.71417|0.71417	0.729000|0.729000	0.30791|0.30791	0.302000|0.302000	0.27658|0.27658	6.624000|6.624000	0.74243|0.74243	2.036000|2.036000	0.60181|0.60181	0.529000|0.529000	0.55759|0.55759	AAA|AAC		0.527	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132250.1	NM_018242		71	200	0	0	0	1	0	71	200					G	19458922	A	G	19458922	3	3	94	1	0	0	0	0	1	0	0	0	14697	14	1	4	688	4	SLC47A1	17	19458922	Missense_Mutation	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08	13435082	19458922	61736288	92	34127											
KRT24	192666	broad.mit.edu	37	chr17	38857493	38857493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtcatccaggactttccGcaggccattgatgtcagcct	10	13	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:38857493G>A	ENST00000264651.2	-	3	810	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	252	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)				AGGACTTTCCGCAGGCCATTG	0.547																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(754-756)Cgg>Tgg		keratin 24							99	86	90					17																	38857493		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38857493G>A		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.754C>T	17.37:g.38857493G>A	ENSP00000264651:p.Arg252Trp						p.R252W	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			3	810	-		Breast(137;0.00526)	252			Coil 1B.|Rod.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.754C>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282977	0.40394	.	.	ENSG00000167916	ENST00000264651	D	0.92545	-3.06	5.82	1.51	0.23008	Filament (1);	.	.	.	.	D	0.97145	0.9067	H	0.96175	3.78	0.38355	D	0.944446	D	0.89917	1.0	D	0.78314	0.991	D	0.98696	1.0698	9	0.87932	D	0	.	15.8909	0.79296	0.0:0.0:0.5363:0.4637	.	252	Q2M2I5	K1C24_HUMAN	W	252	ENSP00000264651:R252W	ENSP00000264651:R252W	R	-	1	2	KRT24	36111019	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.336000	0.19823	0.078000	0.16900	-1.227000	0.01581	CGG		0.547	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		11	266	0	0	0	1	0	11	266					A	38857493	G	A	38857493	3	1	94	1	0	0	0	0	1	0	0	0	8491	1086	38	1	847	1	KRT24	17	38857493	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	19398571	38857493	42337717	93	34128											
VPS25	84313	broad.mit.edu	37	chr17	40925498	40925498	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgggctactacgatggCgatgagtttcgagtggccgt	14	9	0	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:40925498C>A	ENST00000253794.2	+	1	45	c.5C>A	c.(4-6)gCg>gAg	p.A2E		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	2					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACTACGATGGCGATGAGTTTC	0.612																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.(4-6)gCg>gAg		vacuolar protein sorting 25 homolog (S. cerevisiae)							185	159	168					17																	40925498		2203	4300	6503	SO:0001583	missense	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40925498C>A	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.5C>A	17.37:g.40925498C>A	ENSP00000253794:p.Ala2Glu						p.A2E	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	1	45	+		Breast(137;0.00104)	2					B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	c.5C>A	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496557	0.64186	.	.	ENSG00000131475	ENST00000253794	T	0.47869	0.83	4.95	4.95	0.65309	.	0.067954	0.56097	D	0.000024	T	0.35799	0.0944	N	0.24115	0.695	0.48341	D	0.999631	B	0.11235	0.004	B	0.11329	0.006	T	0.19811	-1.0294	10	0.62326	D	0.03	-16.8888	13.689	0.62533	0.0:1.0:0.0:0.0	.	2	Q9BRG1	VPS25_HUMAN	E	2	ENSP00000253794:A2E	ENSP00000253794:A2E	A	+	2	0	VPS25	38179024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.300000	0.43620	2.292000	0.77174	0.491000	0.48974	GCG		0.612	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		88	552	1	0	4.25105e-50	1	4.75488e-50	88	552					A	40925498	C	A	40925498	3	1	94	1	0	0	0	0	1	0	0	0	17250	768	27	3	7	3	VPS25	17	40925498	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	2068005	40925498	40269712	94	34129											
BRCA1	672	broad.mit.edu	37	chr17	41245612	41245612	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttctttatctcttcactgcTagaacaactatcaatttgca	3	10	4	1	rs397508919		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:41245612T>C	ENST00000357654.3	-	10	2054	c.1936A>G	c.(1936-1938)Agc>Ggc	p.S646G	BRCA1_ENST00000354071.3_Missense_Mutation_p.S646G|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S646G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.S350G|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.S599G|BRCA1_ENST00000346315.3_Missense_Mutation_p.S646G|BRCA1_ENST00000491747.2_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	646					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)		TCTTCACTGCTAGAACAACTA	0.408			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 1			E		"breast, ovarian"	ovarian		0				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						c.(1048-1050)Agc>Ggc	Homologous recombination	breast cancer 1, early onset							96	91	93					17																	41245612		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245612T>C	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.1936A>G	17.37:g.41245612T>C	ENSP00000350283:p.Ser646Gly	TCGA Ovarian(2;0.000030)				BRCA1_ENST00000493795.1_Missense_Mutation_p.S599G|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S646G|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.S646G|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.S646G|BRCA1_ENST00000354071.3_Missense_Mutation_p.S646G	p.S350G	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	2075	-		Breast(137;0.000717)	646					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1048A>G	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701528	0.48307	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.99032	-3.64;-3.72;-3.69;-3.57;-3.66;-3.78;-3.99;-5.35	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	D	0.99318	0.9761	M	0.93594	3.435	0.32644	N	0.52031	D;D;P;P;D;P	0.89917	1.0;1.0;0.751;0.849;0.984;0.808	D;D;B;P;P;P	0.71414	0.973;0.973;0.318;0.561;0.799;0.614	D	0.99886	1.1122	10	0.72032	D	0.01	-12.2956	9.02	0.36193	0.0:0.0823:0.0:0.9177	.	646;605;646;646;646;646	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	G	646;646;646;646;350;646;599;646;620	ENSP00000350283:S646G;ENSP00000326002:S646G;ENSP00000246907:S646G;ENSP00000310938:S350G;ENSP00000418960:S646G;ENSP00000418775:S599G;ENSP00000419274:S646G;ENSP00000419988:S620G	ENSP00000310938:S350G	S	-	1	0	BRCA1	38499138	1.000000	0.71417	0.987000	0.45799	0.844000	0.47949	3.457000	0.53007	2.170000	0.68504	0.459000	0.35465	AGC		0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		56	510	0	0	0	1	0	56	510					C	41245612	T	C	41245612	3	2	94	1	0	0	0	0	1	0	0	0	1502	1522	53	4	3781	4	BRCA1	17	41245612	Missense_Mutation	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	320114	41245612	39949598	95	34130											
EFTUD2	9343	broad.mit.edu	37	chr17	42928694	42928694	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagttccagcaacataGgatcatcgaagaatttgctg	10	8	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:42928694G>T	ENST00000426333.2	-	28	3164	c.2867C>A	c.(2866-2868)cCt>cAt	p.P956H	EFTUD2_ENST00000592576.1_Missense_Mutation_p.P946H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P956H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.P921H	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	956					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)				CAGCAACATAGGATCATCGAA	0.522																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2866-2868)cCt>cAt		elongation factor Tu GTP binding domain containing 2							197	171	180					17																	42928694		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42928694G>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2867C>A	17.37:g.42928694G>T	ENSP00000392094:p.Pro956His					EFTUD2_ENST00000402521.3_Missense_Mutation_p.P921H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P946H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P956H	p.P956H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			28	3164	-		Prostate(33;0.109)	956					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.2867C>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195069	0.94960	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.71103	-0.53;-0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	M	0.87758	2.905	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.65773	0.938;0.938	D	0.87972	0.2737	10	0.72032	D	0.01	-13.7718	19.7014	0.96054	0.0:0.0:1.0:0.0	.	946;956	B4DMC0;Q15029	.;U5S1_HUMAN	H	956;946;921	ENSP00000392094:P956H;ENSP00000385873:P921H	ENSP00000262414:P946H	P	-	2	0	EFTUD2	40284220	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.277000	0.95755	2.660000	0.90430	0.563000	0.77884	CCT		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		85	519	1	0	1.68737e-39	1	1.87347e-39	85	519					T	42928694	G	T	42928694	3	4	94	1	0	0	0	0	1	0	0	0	4977	1000	35	3	55	3	EFTUD2	17	42928694	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	1683082	42928694	38266516	96	34131											
LPO	4025	broad.mit.edu	37	chr17	56345237	56345237	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgccttgtctgtgacaacaCccgcatcaccaaggtcccac	7	17	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:56345237C>T	ENST00000262290.4	+	13	2337	c.2021C>T	c.(2020-2022)aCc>aTc	p.T674I	LPO_ENST00000582328.1_Missense_Mutation_p.T591I|LPO_ENST00000543544.1_Missense_Mutation_p.T615I|LPO_ENST00000421678.2_Missense_Mutation_p.T591I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	674					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTGACAACACCCGCATCACC	0.557																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(2020-2022)aCc>aTc		lactoperoxidase							114	99	104					17																	56345237		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56345237C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.2021C>T	17.37:g.56345237C>T	ENSP00000262290:p.Thr674Ile					LPO_ENST00000543544.1_Missense_Mutation_p.T615I|LPO_ENST00000582328.1_Missense_Mutation_p.T591I|LPO_ENST00000421678.2_Missense_Mutation_p.T591I	p.T674I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			13	2337	+			674					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.2021C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992253	0.93167	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71817	-0.6;-0.6;-0.6	5.5	5.5	0.81552	.	0.046101	0.85682	D	0.000000	D	0.86994	0.6067	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89017	0.3432	10	0.72032	D	0.01	-33.3127	17.9786	0.89133	0.0:1.0:0.0:0.0	.	591;674	E7EMJ3;P22079	.;PERL_HUMAN	I	674;591;615;419	ENSP00000262290:T674I;ENSP00000400245:T591I;ENSP00000445344:T615I	ENSP00000262290:T674I	T	+	2	0	LPO	53700236	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.267000	0.78462	2.591000	0.87537	0.655000	0.94253	ACC		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			65	284	0	0	0	1	0	65	284					T	56345237	C	T	56345237	3	4	94	1	0	0	0	0	1	0	0	0	8960	507	18	2	2067	2	LPO	17	56345237	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	13416543	56345237	24849973	97	34132											
ENPP7	339221	broad.mit.edu	37	chr17	77709028	77709028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctggtcacactctacttcGgggagccggactccacgggc	12	14	3	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr17:77709028G>A	ENST00000328313.5	+	3	807	c.586G>A	c.(586-588)Ggg>Agg	p.G196R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACTCTACTTCGGGGAGCCGGA	0.627																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(586-588)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							63	52	56					17																	77709028		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77709028G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.586G>A	17.37:g.77709028G>A	ENSP00000332656:p.Gly196Arg						p.G196R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	807	+			196						Missense_Mutation	SNP	ENST00000328313.5	37	c.586G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179033	0.57692	.	.	ENSG00000182156	ENST00000328313	T	0.71698	-0.59	4.75	3.76	0.43208	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.058821	0.64402	D	0.000002	T	0.72350	0.3449	L	0.60845	1.875	0.80722	D	1	D	0.58620	0.983	P	0.49451	0.611	T	0.72950	-0.4136	10	0.42905	T	0.14	-33.0178	14.1159	0.65154	0.0:0.0:0.8483:0.1517	.	196	Q6UWV6	ENPP7_HUMAN	R	196	ENSP00000332656:G196R	ENSP00000332656:G196R	G	+	1	0	ENPP7	75323623	1.000000	0.71417	0.978000	0.43139	0.346000	0.29079	7.909000	0.87444	0.962000	0.38057	0.591000	0.81541	GGG		0.627	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		5	158	0	0	0	1	0	5	158					A	77709028	G	A	77709028	3	1	94	1	0	0	0	0	1	0	0	0	5153	1116	39	1	596	1	ENPP7	17	77709028	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	21363791	77709028	3486182	98	34133											
SERPINB10	5273	broad.mit.edu	37	chr18	61602106	61602106	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctatgagaagctgaatgAgtggaccagtgcagacatga	12	8	0	5			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr18:61602106A>C	ENST00000238508.3	+	8	883	c.824A>C	c.(823-825)gAg>gCg	p.E275A	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	275					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)				AAGCTGAATGAGTGGACCAGT	0.438																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(823-825)gAg>gCg		serpin peptidase inhibitor, clade B (ovalbumin), member 10							122	117	119					18																	61602106		2203	4300	6503	SO:0001583	missense	5273							g.chr18:61602106A>C	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"Serine (or cysteine) peptidase inhibitors"	8942	protein-coding gene	gene with protein product	"protease inhibitor 10 (ovalbumin type, bomapin)"	602058	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.824A>C	18.37:g.61602106A>C	ENSP00000238508:p.Glu275Ala					AC009802.1_ENST00000599868.1_Intron	p.E275A	NM_005024.1	NP_005015.1					8	883	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.824A>C	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	4.321	0.059004	0.08339	.	.	ENSG00000242550	ENST00000238508	D	0.84589	-1.87	5.53	3.07	0.35406	Serpin domain (3);	0.291996	0.37623	N	0.002012	T	0.75649	0.3878	L	0.43701	1.375	0.36153	D	0.847574	B	0.28419	0.211	B	0.28465	0.09	T	0.66976	-0.5787	10	0.12766	T	0.61	.	7.9103	0.29787	0.7907:0.1376:0.0717:0.0	.	275	P48595	SPB10_HUMAN	A	275	ENSP00000238508:E275A	ENSP00000238508:E275A	E	+	2	0	SERPINB10	59753086	0.078000	0.21339	0.629000	0.29254	0.699000	0.40488	1.977000	0.40589	0.446000	0.26666	0.533000	0.62120	GAG		0.438	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		52	238	0	0	0	1	0	52	238					C	61602106	A	C	61602106	3	2	94	1	0	0	0	0	1	0	0	0	14147	304	11	4	850	4	SERPINB10	18	61602106	Missense_Mutation	SNP	A	TCGA-IB-AAUO-01A-12D-A38G-08		61602106	16475142	99	34134											
DAPK3	1613	broad.mit.edu	37	chr19	3964300	3964300	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccccgcctcgatcttgtgCgcgatgccgaagtcgatgag	12	13	1	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:3964300C>T	ENST00000545797.2	-	4	738	c.495G>A	c.(493-495)gcG>gcA	p.A165A	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Silent_p.A165A			O43293	DAPK3_HUMAN	death-associated protein kinase 3	165	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATCTTGTGCGCGATGCCGA	0.622																																						ENST00000545797.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(493-495)gcG>gcA		death-associated protein kinase 3							213	133	160					19																	3964300		2203	4300	6503	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3964300C>T	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.495G>A	19.37:g.3964300C>T						DAPK3_ENST00000301264.3_Silent_p.A165A	p.A165A			O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	4	738	-		Hepatocellular(1079;0.137)	165			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.495G>A	CCDS12116.1																																																																																				0.622	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348		4	169	0	0	0	1	0	4	169					T	3964300	C	T	3964300	2	4	94	1	0	0	0	0	0	0	0	1	4248	755	27	1		1	DAPK3	19	3964300	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		3964300	55164683	100	34135											
MBD3L1	85509	broad.mit.edu	37	chr19	8953738	8953738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgcctgctcttcagatgcGgtggagataattcctgcaga	11	10	2	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:8953738G>A	ENST00000595891.1	+	3	615	c.384G>A	c.(382-384)gcG>gcA	p.A128A	MBD3L1_ENST00000305625.2_Silent_p.A128A			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CTTCAGATGCGGTGGAGATAA	0.522																																						ENST00000595891.1																			0				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						c.(382-384)gcG>gcA		methyl-CpG binding domain protein 3-like 1							56	46	50					19																	8953738		2203	4300	6503	SO:0001819	synonymous_variant	85509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:8953738G>A	AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"methyl-CpG binding domain protein 3-like"	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.384G>A	19.37:g.8953738G>A						MBD3L1_ENST00000305625.2_Silent_p.A128A	p.A128A			Q8WWY6	MB3L1_HUMAN			3	615	+			128					B5BUM6|Q2M291	Silent	SNP	ENST00000595891.1	37	c.384G>A	CCDS12209.1																																																																																				0.522	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208		21	118	0	0	0	1	0	21	118					A	8953738	G	A	8953738	2	1	94	1	0	0	0	0	0	0	0	1	9386	1103	39	1		1	MBD3L1	19	8953738	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	4989438	8953738	50175245	101	34136											
MUC16	94025	broad.mit.edu	37	chr19	9074660	9074660	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatggctttgtatggcctggGataggagaatattcagaact	13	5	1	2	rs377588927		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:9074660G>T	ENST00000397910.4	-	3	12989	c.12786C>A	c.(12784-12786)atC>atA	p.I4262I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4264	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						TATGGCCTGGGATAGGAGAAT	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12784-12786)atC>atA		mucin 16, cell surface associated							126	125	125					19																	9074660		2010	4166	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074660G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12786C>A	19.37:g.9074660G>T							p.I4262I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12989	-			4264			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.12786C>A	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	255	1	0	0.00307968	1	0.00316348	7	255					T	9074660	G	T	9074660	2	4	94	1	0	0	0	0	0	0	0	1	10014	1164	41	3		3	MUC16	19	9074660	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	120922	9074660	50054323	102	34137											
ZNF653	115950	broad.mit.edu	37	chr19	11596490	11596490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgaatggatgatcatgtgCcgccgcaggtggttggataa	14	8	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:11596490C>T	ENST00000293771.5	-	7	1687	c.1551G>A	c.(1549-1551)cgG>cgA	p.R517R	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	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)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TGATCATGTGCCGCCGCAGGT	0.592																																					Pancreas(83;980 1446 4542 6441 43352)	ENST00000293771.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						c.(1549-1551)cgG>cgA		zinc finger protein 653							156	137	143					19																	11596490		2203	4300	6503	SO:0001819	synonymous_variant	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11596490C>T	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.1551G>A	19.37:g.11596490C>T						CTC-398G3.6_ENST00000585656.1_Intron	p.R517R	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN			7	1687	-			517					Q96AS7	Silent	SNP	ENST00000293771.5	37	c.1551G>A	CCDS12261.1																																																																																				0.592	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		5	295	0	0	0	1	0	5	295					T	11596490	C	T	11596490	2	4	94	1	0	0	0	0	0	0	0	1	18119	726	26	2		2	ZNF653	19	11596490	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	2521830	11596490	47532493	103	34138											
PSG3	5671	broad.mit.edu	37	chr19	43237204	43237204	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggagatggagggcttGggagtctccactgtgcagaa	16	8	1	2			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:43237204G>T	ENST00000327495.5	-	3	625	c.441C>A	c.(439-441)ccC>ccA	p.P147P	PSG3_ENST00000595140.1_Silent_p.P147P|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	147	Ig-like C2-type 1.				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)				TGGAGGGCTTGGGAGTCTCCA	0.522																																						ENST00000327495.5																			0				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						c.(439-441)ccC>ccA		pregnancy specific beta-1-glycoprotein 3							136	138	137					19																	43237204		2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43237204G>T		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.441C>A	19.37:g.43237204G>T						PSG3_ENST00000595140.1_Silent_p.P147P	p.P147P	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			3	625	-		Prostate(69;0.00682)	147			Ig-like C2-type 1.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.441C>A	CCDS12611.1																																																																																				0.522	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		150	695	1	0	6.68944e-66	1	7.53811e-66	150	695					T	43237204	G	T	43237204	2	4	94	1	0	0	0	0	0	0	0	1	12703	1335	47	3		3	PSG3	19	43237204	Silent	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	31640714	43237204	15891779	104	34139											
ZNF667	63934	broad.mit.edu	37	chr19	56953041	56953041	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catttattgcatttgaaaggTttctcttcagaatgaatatt	6	5	2	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr19:56953041T>C	ENST00000504904.3	-	7	2042	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	ZNF667_ENST00000292069.6_Silent_p.K441K|ZNF667_ENST00000342634.3_Silent_p.K569K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	441					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(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)		ATTTGAAAGGTTTCTCTTCAG	0.338																																						ENST00000504904.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1321-1323)aaA>aaG		zinc finger protein 667							47	48	48					19																	56953041		2203	4300	6503	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953041T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1323A>G	19.37:g.56953041T>C						ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.K569K|ZNF667_ENST00000292069.6_Silent_p.K441K	p.K441K			Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	7	2042	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	441					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1323A>G	CCDS12944.1																																																																																				0.338	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		12	429	0	0	0	1	0	12	429					C	56953041	T	C	56953041	2	2	94	1	0	0	0	0	0	0	0	1	18127	1722	60	4		4	ZNF667	19	56953041	Silent	SNP	T	TCGA-IB-AAUO-01A-12D-A38G-08	13715837	56953041	2175942	105	34140											
NCOA6	23054	broad.mit.edu	37	chr20	33337722	33337722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgacatctgtcccGtaaactgcaccatatttcct	5	14	2	1	rs187622379		TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr20:33337722G>A	ENST00000374796.2	-	10	4846	c.2276C>T	c.(2275-2277)aCg>aTg	p.T759M	NCOA6_ENST00000359003.2_Missense_Mutation_p.T759M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	759	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						CATCTGTCCCGTAAACTGCAC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		22320	0.001		0.0	False		,,,				2504	0.0					ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2275-2277)aCg>aTg		nuclear receptor coactivator 6							100	87	92					20																	33337722		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337722G>A	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.2276C>T	20.37:g.33337722G>A	ENSP00000363929:p.Thr759Met					NCOA6_ENST00000359003.2_Missense_Mutation_p.T759M	p.T759M			Q14686	NCOA6_HUMAN			10	4846	-			759			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2276C>T	CCDS13241.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.50	3.405308	0.62288	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.24350	1.86;1.86	5.56	5.56	0.83823	.	0.255877	0.33534	N	0.004805	T	0.22820	0.0551	N	0.14661	0.345	0.32293	N	0.565994	D	0.63046	0.992	P	0.47528	0.549	T	0.09618	-1.0666	10	0.66056	D	0.02	-1.5786	16.7201	0.85408	0.0:0.1288:0.8712:0.0	.	759	Q14686	NCOA6_HUMAN	M	759	ENSP00000363929:T759M;ENSP00000351894:T759M	ENSP00000351894:T759M	T	-	2	0	NCOA6	32801383	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	4.403000	0.59729	2.890000	0.99128	0.655000	0.94253	ACG		0.542	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	280	0	0	0	1	0	4	280					A	33337722	G	A	33337722	3	1	94	1	0	0	0	0	1	0	0	0	10275	1145	40	1	3943	1	NCOA6	20	33337722	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08		33337722	29687798	106	34141											
PATZ1	23598	broad.mit.edu	37	chr22	31740473	31740473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgggacagcttgtgCcggttaagatgatacacatc	12	9	0	3			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	PATZ1_ENST00000215919.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R|AC005003.1_ENST00000504184.2_5'Flank	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					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)	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582																																						ENST00000266269.5																		EWSR1/PATZ1(2)	2	Substitution - coding silent(2)	p.R372R(2)	kidney(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1114-1116)cgG>cgA		POZ (BTB) and AT hook containing zinc finger 1							113	108	110					22																	31740473		2203	4300	6503	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740473C>T	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.1116G>A	22.37:g.31740473C>T						PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R	p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1745	-			372					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.1116G>A	CCDS13894.1																																																																																				0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		5	317	0	0	0	1	0	5	317					T	31740473	C	T	31740473	2	4	94	1	0	0	0	0	0	0	0	1	11518	726	26	2		2	PATZ1	22	31740473	Silent	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08		31740473	19564093	107	34142											
RAI2	10742	broad.mit.edu	37	chrX	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-													gccgttatttactttcttggAaaaaaggtggccagccgttg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)tttfs	p.F527fs	RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1579-1581)ttfs		retinoic acid induced 2							182	201	195					X																	17818550		2203	4300	6503	SO:0001589	frameshift_variant	10742				embryo development			g.chrX:17818550delA	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1581delT	X.37:g.17818550delA	ENSP00000444210:p.Phe527fs					RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs	p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	2041	-	Hepatocellular(33;0.183)		527					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Del	DEL	ENST00000545871.1	37	c.1581delT	CCDS14183.1																																																																																				0.333	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		9	1826						9	1826	---	---	---	---	-	17818550	A	-	17818550	7	5	94	1	0	1	0	1	0	0	0	0	13059	243	9	0	15	0	RAI2	23	17818550	Frame_Shift_Del	DEL	A	TCGA-IB-AAUO-01A-12D-A38G-08		17818550	137452010	108	34143											
DMD	1756	broad.mit.edu	37	chrX	32663260	32663260	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgacttgtcttcaggagCttccaaatgctgcacaataa	7	9	2	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:32663260C>T	ENST00000357033.4	-	10	1176	c.970G>A	c.(970-972)Gct>Act	p.A324T	DMD_ENST00000378677.2_Missense_Mutation_p.A320T|DMD_ENST00000288447.4_Missense_Mutation_p.A316T	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	324					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)				TCTTCAGGAGCTTCCAAATGC	0.348																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(970-972)Gct>Act		dystrophin							119	107	111					X																	32663260		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32663260C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.970G>A	X.37:g.32663260C>T	ENSP00000354923:p.Ala324Thr					DMD_ENST00000378677.2_Missense_Mutation_p.A320T|DMD_ENST00000288447.4_Missense_Mutation_p.A316T	p.A324T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			10	1176	-		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)	324					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.970G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099324	0.07010	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.72615	0.16;0.16;-0.67	5.67	2.85	0.33270	.	0.197530	0.24231	U	0.040342	T	0.40815	0.1132	N	0.05078	-0.115	0.80722	D	1	B;B;B;B;B	0.10296	0.0;0.0;0.002;0.003;0.001	B;B;B;B;B	0.10450	0.0;0.0;0.005;0.002;0.002	T	0.32188	-0.9916	10	0.02654	T	1	.	7.4854	0.27429	0.0:0.574:0.0:0.426	.	320;316;316;324;320	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	T	316;320;324;324;201;316	ENSP00000367948:A320T;ENSP00000354923:A324T;ENSP00000288447:A316T	ENSP00000288447:A316T	A	-	1	0	DMD	32573181	0.963000	0.33076	1.000000	0.80357	0.984000	0.73092	-0.020000	0.12525	0.611000	0.30052	0.600000	0.82982	GCT		0.348	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		8	437	0	0	0	1	0	8	437					T	32663260	C	T	32663260	3	4	94	1	0	0	0	0	1	0	0	0	4596	797	28	2	10610	2	DMD	23	32663260	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	14844710	32663260	122607300	109	34144											
PHF8	23133	broad.mit.edu	37	chrX	54069187	54069187	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcggccctggagcgttctgCggccggccaggttcgtcgtg	16	14	1	0			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:54069187C>T	ENST00000357988.5	-	2	441	c.83G>A	c.(82-84)cGc>cAc	p.R28H	PHF8_ENST00000322659.8_5'UTR|PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000462182.1_5'Flank	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	28					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						GAGCGTTCTGCGGCCGGCCAG	0.597											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357988.5																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(82-84)cGc>cAc		PHD finger protein 8							37	27	30					X																	54069187		2200	4297	6497	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54069187C>T	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.83G>A	X.37:g.54069187C>T	ENSP00000350676:p.Arg28His		OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000322659.8_5'UTR	p.R28H	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN			2	441	-			28					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.83G>A	CCDS55420.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883919	0.33255	.	.	ENSG00000172943	ENST00000357988;ENST00000396277;ENST00000453905	T;T	0.18657	2.49;2.2	5.14	0.16	0.14972	.	1.117560	0.06850	N	0.797139	T	0.10852	0.0265	N	0.08118	0	0.19300	N	0.999971	B	0.02656	0.0	B	0.01281	0.0	T	0.34204	-0.9838	10	0.62326	D	0.03	0.9987	5.5865	0.17277	0.0:0.5422:0.1305:0.3273	.	28	Q9UPP1	PHF8_HUMAN	H	28;22;28	ENSP00000350676:R28H;ENSP00000405897:R28H	ENSP00000350676:R28H	R	-	2	0	PHF8	54085912	0.707000	0.27866	0.000000	0.03702	0.006000	0.05464	1.015000	0.29963	-0.365000	0.08076	-0.994000	0.02522	CGC		0.597	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		4	39	0	0	0	1	0	4	39					T	54069187	C	T	54069187	3	4	94	1	0	0	0	0	1	0	0	0	11882	768	27	1	3353	1	PHF8	23	54069187	Missense_Mutation	SNP	C	TCGA-IB-AAUO-01A-12D-A38G-08	21405927	54069187	101201373	110	34145											
ERCC6L	54821	broad.mit.edu	37	chrX	71427535	71427536	+	Frame_Shift_Ins	INS	-	-	G													taaatcatttttcctggaaaINSgggaaggcatttcacaaatg							TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:71427535_71427536insG	ENST00000334463.3	-	2	1216_1217	c.1081_1082insC	c.(1081-1083)cttfs	p.L361fs	ERCC6L_ENST00000373657.1_Frame_Shift_Ins_p.L238fs|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	361					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTTCCTGGAAAGGGAAGGCATT	0.366																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(712-714)ttcfs		excision repair cross-complementing rodent repair deficiency, complementation group 6-like																																				SO:0001589	frameshift_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71427535_71427536insG	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1082dupC	X.37:g.71427538_71427538dupG	ENSP00000334675:p.Leu361fs					ERCC6L_ENST00000334463.3_Frame_Shift_Ins_p.F361fs|PIN4_ENST00000423432.2_Intron	p.F238fs			Q2NKX8	ERC6L_HUMAN			3	1314_1315	-	Renal(35;0.156)		361			Helicase ATP-binding.		Q8NCI1|Q96H93|Q9NXQ8	Frame_Shift_Ins	INS	ENST00000334463.3	37	c.712_713insC	CCDS35329.1																																																																																				0.366	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		150	561						150	561	---	---	---	---	G	71427536	-	G	71427535	7	5	94	1	0	1	1	0	0	0	0	0	5236	72	3	0	2674	0	ERCC6L	23	71427535	Frame_Shift_Ins	INS	-	TCGA-IB-AAUO-01A-12D-A38G-08	17358348	71427535	83843025	111	34146											
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-IB-AAUO-01A-12D-A38G-08	TCGA-IB-AAUO-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fea1f02f-d937-4ce1-99cc-b1253242f1cf	84813019-93c1-4f1c-8103-a43c6b33b120	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	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)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128	97	107					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	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)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		5	269	0	0	0	1	0	5	269					A	153134383	G	A	153134383	3	1	94	1	0	0	0	0	1	0	0	0	8619	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-IB-AAUO-01A-12D-A38G-08	81706848	153134383	2136177	112	34147											
SMPDL3B	27293	broad.mit.edu	37	chr1	28261707	28261707	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ccccgaggatgaggctgctcGcctggctgattttcctggct	13	13	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:28261707G>C	ENST00000373894.3	+	1	204	c.13G>C	c.(13-15)Gcc>Ccc	p.A5P	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P|SMPDL3B_ENST00000466793.1_3'UTR	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	5					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)		GAGGCTGCTCGCCTGGCTGAT	0.547																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(13-15)Gcc>Ccc		sphingomyelin phosphodiesterase, acid-like 3B							76	69	72					1																	28261707		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28261707G>C	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.13G>C	1.37:g.28261707G>C	ENSP00000363001:p.Ala5Pro					SMPDL3B_ENST00000373888.4_Missense_Mutation_p.A5P|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.A5P|SMPDL3B_ENST00000466793.1_3'UTR	p.A5P	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	1	204	+		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)	5					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.13G>C	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051591	0.36181	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;T;D;D	0.90004	-2.6;1.73;-2.6;-2.6	3.79	-6.63	0.01807	.	3.314520	0.01170	U	0.006848	T	0.80899	0.4712	L	0.39898	1.24	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.63800	-0.6555	10	0.41790	T	0.15	1.2634	3.014	0.06053	0.2355:0.1489:0.4691:0.1465	.	5;5;5	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	P	5	ENSP00000363001:A5P;ENSP00000388092:A5P;ENSP00000362995:A5P;ENSP00000449450:A5P	ENSP00000362995:A5P	A	+	1	0	SMPDL3B	28134294	0.000000	0.05858	0.001000	0.08648	0.213000	0.24496	-1.654000	0.01984	-1.170000	0.02769	-1.336000	0.01259	GCC		0.547	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		8	159	0	0	0	1	0	8	159					C	28261707	G	C	28261707	3	2	95	1	0	0	0	0	1	0	0	0	14859	1087	38	5	15	5	SMPDL3B	1	28261707	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		28261707	220988914	1	34148											
PUM1	9698	broad.mit.edu	37	chr1	31447601	31447601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagactggcagggtagActccccagggagtaactcca	13	10	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:31447601A>C	ENST00000257075.5	-	10	1496	c.1403T>G	c.(1402-1404)gTc>gGc	p.V468G	PUM1_ENST00000424085.2_Missense_Mutation_p.V226G|PUM1_ENST00000373741.4_Missense_Mutation_p.V504G|PUM1_ENST00000373742.2_Missense_Mutation_p.V409G|PUM1_ENST00000426105.2_Missense_Mutation_p.V468G|PUM1_ENST00000373747.3_Missense_Mutation_p.V469G|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000423018.2_Missense_Mutation_p.V372G|PUM1_ENST00000440538.2_Missense_Mutation_p.V469G	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	468	Ala-rich.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGCAGGGTAGACTCCCCAGGG	0.512																																						ENST00000373747.3																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1405-1407)gTc>gGc		pumilio RNA-binding family member 1							49	49	49					1																	31447601		2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31447601A>C	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1403T>G	1.37:g.31447601A>C	ENSP00000257075:p.Val468Gly					PUM1_ENST00000440538.2_Missense_Mutation_p.V469G|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000426105.2_Missense_Mutation_p.V468G|PUM1_ENST00000424085.2_Missense_Mutation_p.V226G|PUM1_ENST00000423018.2_Missense_Mutation_p.V372G|PUM1_ENST00000373741.4_Missense_Mutation_p.V504G|PUM1_ENST00000373742.2_Missense_Mutation_p.V409G|PUM1_ENST00000257075.5_Missense_Mutation_p.V468G	p.V469G	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	10	1505	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	468			Ala-rich.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.1406T>G	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.506990|4.506990	0.85282|0.85282	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000525843;ENST00000498419;ENST00000532678|ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000543952	.|T;T;T;T;T;T;T;T	.|0.32753	.|1.73;1.44;1.74;1.73;1.69;1.7;1.6;1.56	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54319|0.54319	0.1851|0.1851	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;P;D;P;D;D;D;D	.|0.89917	.|1.0;0.608;1.0;0.728;1.0;1.0;1.0;1.0	.|D;B;D;B;D;D;D;D	.|0.83275	.|0.996;0.202;0.996;0.366;0.996;0.996;0.996;0.996	T|T	0.57642|0.57642	-0.7776|-0.7776	5|10	.|0.87932	.|D	.|0	-9.606|-9.606	12.5418|12.5418	0.56174|0.56174	0.9342:0.0:0.0658:0.0|0.9342:0.0:0.0658:0.0	.|.	.|409;372;504;469;468;468;469;468	.|B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.|.;.;.;.;PUM1_HUMAN;.;.;.	R|G	485;179;155|226;468;469;206;468;469;504;372;409;468	.|ENSP00000400141:V226G;ENSP00000257075:V468G;ENSP00000362852:V469G;ENSP00000391723:V468G;ENSP00000401777:V469G;ENSP00000362846:V504G;ENSP00000399440:V372G;ENSP00000362847:V409G	.|ENSP00000257075:V468G	S|V	-|-	3|2	2|0	PUM1|PUM1	31220188|31220188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.442000|7.442000	0.80503|0.80503	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	AGT|GTC		0.512	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1			4	139	0	0	0	1	0	4	139					C	31447601	A	C	31447601	3	2	95	1	0	0	0	0	1	0	0	0	12875	275	10	4	2215	4	PUM1	1	31447601	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	3185894	31447601	217803020	2	34149											
S100PBP	64766	broad.mit.edu	37	chr1	33291760	33291760	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctctctcttgcctaaagaCggtgccccattttcttggga	8	13	3	1	rs370290667		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:33291760C>T	ENST00000373475.5	+	3	314	c.60C>T	c.(58-60)gaC>gaT	p.D20D	S100PBP_ENST00000373476.1_Silent_p.D20D|S100PBP_ENST00000398243.3_Silent_p.D20D|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCCTAAAGACGGTGCCCCAT	0.458																																						ENST00000373475.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(58-60)gaC>gaT		S100P binding protein		C	,	1,4405	2.1+/-5.4	0,1,2202	164	150	155		60,60	2.7	0.8	1		155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	S100PBP	NM_001017406.1,NM_022753.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	20/342,20/409	33291760	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64766					nucleus	calcium-dependent protein binding	g.chr1:33291760C>T	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.60C>T	1.37:g.33291760C>T						S100PBP_ENST00000373476.1_Silent_p.D20D|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Silent_p.D20D	p.D20D	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN			3	314	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	20						Silent	SNP	ENST00000373475.5	37	c.60C>T	CCDS30666.1																																																																																				0.458	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		5	484	0	0	0	1	0	5	484					T	33291760	C	T	33291760	2	4	95	1	0	0	0	0	0	0	0	1	13841	535	19	1		1	S100PBP	1	33291760	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1844159	33291760	215958861	3	34150											
CSMD2	114784	broad.mit.edu	37	chr1	34164425	34164425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagctcctcactaccccGcaggctgtatccagggtcac	9	17	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:34164425G>A	ENST00000373380.1	-	3	692	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	CSMD2_ENST00000373381.4_Missense_Mutation_p.R1285W|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1245	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1245W(1)		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)				TCACTACCCCGCAGGCTGTAT	0.602																																						ENST00000373381.4																			1	Substitution - Missense(1)	p.R1245W(1)	large_intestine(1)	NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3853-3855)Cgg>Tgg		CUB and Sushi multiple domains 2							81	78	79					1																	34164425		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164425G>A	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.472C>T	1.37:g.34164425G>A	ENSP00000362478:p.Arg158Trp					CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R158W	p.R1285W	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			24	4029	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1245			CUB 8.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3853C>T		.	.	.	.	.	.	.	.	.	.	G	19.54	3.847745	0.71603	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65732	-0.17;-0.17	5.76	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.064952	0.64402	D	0.000009	T	0.75398	0.3844	M	0.62266	1.93	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;P;P	0.69307	0.963;0.892;0.892	T	0.78157	-0.2313	10	0.66056	D	0.02	.	14.5371	0.67969	0.0:0.0:0.735:0.265	.	158;1245;1285	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	W	1285;158	ENSP00000362479:R1285W;ENSP00000362478:R158W	ENSP00000241312:R1245W	R	-	1	2	CSMD2	33937012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.128000	0.42045	1.522000	0.49001	0.650000	0.86243	CGG		0.602	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		9	358	0	0	0	1	0	9	358					A	34164425	G	A	34164425	3	1	95	1	0	0	0	0	1	0	0	0	3956	1086	38	1	6914	1	CSMD2	1	34164425	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	872665	34164425	215086196	4	34151											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					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)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	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	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1346						7	1346	---	---	---	---	-	44489938	T	-	44489938	7	5	95	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-IB-AAUP-01A-11D-A377-08	10325513	44489938	204760683	5	34152											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		15	300						15	300	---	---	---	---	-	46184898	AC	-	46184897	7	5	95	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-AAUP-01A-11D-A377-08	1694959	46184897	203065724	6	34153											
NRD1	4898	broad.mit.edu	37	chr1	52305911	52305912	+	Frame_Shift_Ins	INS	-	-	T													tcgcacctgtttttcagtagINSttttttttctagcttctgct					rs372511102		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:52305911_52305912insT	ENST00000354831.7	-	2	805_806	c.616_617insA	c.(616-618)actfs	p.T206fs	NRD1_ENST00000544028.1_Frame_Shift_Ins_p.T74fs|NRD1_ENST00000539524.1_Frame_Shift_Ins_p.T74fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Frame_Shift_Ins_p.T206fs	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						TTTTTCAGTAGTTTTTTTTCTA	0.332																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(616-618)tacfs		nardilysin (N-arginine dibasic convertase)																																				SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52305911_52305912insT	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.617dupA	1.37:g.52305919_52305919dupT	ENSP00000346890:p.Thr206fs					NRD1_ENST00000352171.7_Frame_Shift_Ins_p.Y206fs|NRD1_ENST00000544028.1_Frame_Shift_Ins_p.Y74fs|NRD1_ENST00000539524.1_Frame_Shift_Ins_p.Y74fs|NRD1_ENST00000485608.1_5'UTR	p.Y206fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			2	805_806	-			186					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Ins	INS	ENST00000354831.7	37	c.616_617insA	CCDS559.1																																																																																				0.332	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		8	497						8	497	---	---	---	---	T	52305912	-	T	52305911	7	5	95	1	0	1	1	0	0	0	0	0	10687	1029	36	0	3170	0	NRD1	1	52305911	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08	6121014	52305911	196944710	7	34154											
LPHN2	23266	broad.mit.edu	37	chr1	82372825	82372825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagagcgctaactatggtcGgacggatgacaagatttgtg	14	6	0	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:82372825G>A	ENST00000370728.1	+	6	842	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACTATGGTCGGACGGATGAC	0.453																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(196-198)cGg>cAg		latrophilin 2							168	154	159					1																	82372825		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82372825G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.197G>A	1.37:g.82372825G>A	ENSP00000359763:p.Arg66Gln					LPHN2_ENST00000370727.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.R66Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.R66Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.R66Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.R66Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.R66Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.R66Q	p.R66Q			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	842	+			66			SUEL-type lectin.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.197G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.681143	0.96774	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	T	0.52306	0.1726	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;1.0	T	0.65709	-0.6102	10	0.87932	D	0	.	18.8804	0.92353	0.0:0.0:1.0:0.0	.	66;66;66;66	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	Q	66	ENSP00000359756:R66Q;ENSP00000359763:R66Q;ENSP00000359765:R66Q;ENSP00000359762:R66Q;ENSP00000359760:R66Q;ENSP00000359758:R66Q;ENSP00000353006:R66Q;ENSP00000359750:R66Q;ENSP00000359748:R66Q;ENSP00000322270:R66Q;ENSP00000359752:R66Q;ENSP00000378344:R66Q;ENSP00000271029:R66Q;ENSP00000337306:R66Q	ENSP00000271029:R66Q	R	+	2	0	LPHN2	82145413	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.695000	0.98691	2.527000	0.85204	0.557000	0.71058	CGG		0.453	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		16	510	0	0	0	1	0	16	510					A	82372825	G	A	82372825	3	1	95	1	0	0	0	0	1	0	0	0	8954	1116	39	1	203	1	LPHN2	1	82372825	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	30066914	82372825	166877796	8	34155											
HRNR	388697	broad.mit.edu	37	chr1	152191932	152191932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagccgtgttttctgtagcCggaggagtgacttgagccag	15	8	1	3	rs143281072	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152191932C>T	ENST00000368801.2	-	3	2248	c.2173G>A	c.(2173-2175)Ggc>Agc	p.G725S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	725					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)			TTTCTGTAGCCGGAGGAGTGA	0.547													c|||	7	0.00139776	0.0045	0.0014	5008	,	,		22127	0.0		0.0	False		,,,				2504	0.0					ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2173-2175)Ggc>Agc		hornerin		C	SER/GLY	15,4391		0,15,2188	196	198	197		2173	-1.1	0	1	dbSNP_134	197	0,8600		0,0,4300	yes	missense	HRNR	NM_001009931.1	56	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	benign	725/2851	152191932	15,12991	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191932C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2173G>A	1.37:g.152191932C>T	ENSP00000357791:p.Gly725Ser					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G725S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2248	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		725					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2173G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.690	0.690769	0.15039	0.003404	0.0	ENSG00000197915	ENST00000368801	T	0.05382	3.45	3.16	-1.07	0.09968	.	.	.	.	.	T	0.00845	0.0028	N	0.12746	0.255	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.47420	-0.9119	9	0.12766	T	0.61	.	6.8467	0.23992	0.0:0.5976:0.0:0.4024	.	725	Q86YZ3	HORN_HUMAN	S	725	ENSP00000357791:G725S	ENSP00000357791:G725S	G	-	1	0	HRNR	150458556	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-7.746000	0.00030	-0.038000	0.13624	-0.454000	0.05498	GGC		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		5	961	0	0	0	1	0	5	961					T	152191932	C	T	152191932	3	4	95	1	0	0	0	0	1	0	0	0	7389	652	23	1	6383	1	HRNR	1	152191932	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	69819107	152191932	97058689	9	34156											
LCE2B	26239	broad.mit.edu	37	chr1	152659492	152659492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgggggctgctgtggtcCcagctctgggggctgctgca	17	12	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:152659492C>T	ENST00000368780.3	+	2	227	c.173C>T	c.(172-174)cCc>cTc	p.P58L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	58	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)			TGCTGTGGTCCCAGCTCTGGG	0.667																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(172-174)cCc>cTc		late cornified envelope 2B							103	119	113					1																	152659492		2203	4300	6503	SO:0001583	missense	26239				keratinization			g.chr1:152659492C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"Late cornified envelopes"	16610	protein-coding gene	gene with protein product		612610	"small proline rich-like (epidermal differentiation complex) 1B"	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.173C>T	1.37:g.152659492C>T	ENSP00000357769:p.Pro58Leu					LCE2B_ENST00000417924.2_Missense_Mutation_p.P58L	p.P58L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	227	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		58			Cys-rich.		Q5TA80	Missense_Mutation	SNP	ENST00000368780.3	37	c.173C>T	CCDS1020.1	.	.	.	.	.	.	.	.	.	.	C	0.706	-0.789106	0.02884	.	.	ENSG00000159455	ENST00000417924;ENST00000368780	T;T	0.03982	3.74;3.74	2.49	0.482	0.16815	.	.	.	.	.	T	0.01189	0.0039	L	0.29908	0.895	0.26615	N	0.972753	B	0.06786	0.001	B	0.01281	0.0	T	0.46541	-0.9184	9	0.87932	D	0	.	4.5339	0.12019	0.0:0.6472:0.0:0.3528	.	58	O14633	LCE2B_HUMAN	L	58	ENSP00000414043:P58L;ENSP00000357769:P58L	ENSP00000357769:P58L	P	+	2	0	LCE2B	150926116	0.030000	0.19436	0.139000	0.22197	0.053000	0.15095	0.161000	0.16481	-0.140000	0.11394	0.313000	0.20887	CCC		0.667	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		39	1071	0	0	0	1	0	39	1071					T	152659492	C	T	152659492	3	4	95	1	0	0	0	0	1	0	0	0	8697	623	22	2	175	2	LCE2B	1	152659492	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	467560	152659492	96591129	10	34157											
BCAN	63827	broad.mit.edu	37	chr1	156626767	156626767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggctgggacgccttccaGggcgcctgctacaagcactt	12	16	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:156626767G>A	ENST00000329117.5	+	10	2424	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	696	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGCCTTCCAGGGCGCCTGCT	0.657																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2086-2088)caG>caA		brevican							39	41	40					1																	156626767		2203	4300	6503	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626767G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2088G>A	1.37:g.156626767G>A						BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.Q696Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			10	2424	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		696			C-type lectin.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.2088G>A	CCDS1149.1																																																																																				0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	259	0	0	0	1	0	8	259					A	156626767	G	A	156626767	2	1	95	1	0	0	0	0	0	0	0	1	1346	991	35	2		2	BCAN	1	156626767	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	3967275	156626767	92623854	11	34158											
ITLN1	55600	broad.mit.edu	37	chr1	160850421	160850421	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgttttctgggcgtcGccaaaatcatagaccacagg	11	10	2	1	rs201111955		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443																																						ENST00000326245.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(640-642)ggC>ggT		intelectin 1 (galactofuranose binding)							181	181	181					1																	160850421		2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850421G>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.642C>T	1.37:g.160850421G>A						ITLN1_ENST00000487531.1_5'UTR	p.G214G	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	757	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		214			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.642C>T	CCDS1211.1																																																																																				0.443	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		9	909	0	0	0	1	0	9	909					A	160850421	G	A	160850421	2	1	95	1	0	0	0	0	0	0	0	1	7940	1074	38	1		1	ITLN1	1	160850421	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	4223654	160850421	88400200	12	34159											
GPA33	10223	broad.mit.edu	37	chr1	167024256	167024256	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgttgtcgtccttccctcGgcagcagcagcagtagatga	12	11	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:167024256G>A	ENST00000367868.3	-	6	1127	c.784C>T	c.(784-786)Cga>Tga	p.R262*	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	262						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCCTTCCCTCGGCAGCAGCAG	0.562																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(784-786)Cga>Tga		glycoprotein A33 (transmembrane)							157	119	132					1																	167024256		2203	4300	6503	SO:0001587	stop_gained	10223					integral to plasma membrane	receptor activity	g.chr1:167024256G>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.784C>T	1.37:g.167024256G>A	ENSP00000356842:p.Arg262*					RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	p.R262*	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			6	1127	-			262					Q5VZP6	Nonsense_Mutation	SNP	ENST00000367868.3	37	c.784C>T	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	G	36	5.857738	0.97030	.	.	ENSG00000143167	ENST00000367868	.	.	.	4.67	3.64	0.41730	.	0.451102	0.20825	N	0.084995	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7064	0.45958	0.0:0.0:0.7959:0.2041	.	.	.	.	X	262	.	ENSP00000356842:R262X	R	-	1	2	GPA33	165290880	0.983000	0.35010	0.792000	0.32020	0.425000	0.31504	2.725000	0.47294	2.135000	0.66039	0.484000	0.47621	CGA		0.562	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		13	290	0	0	0	1	0	13	290					A	167024256	G	A	167024256	4	1	95	1	0	0	0	0	0	1	0	0	6615	1124	39	1	183	1	GPA33	1	167024256	Nonsense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	6173835	167024256	82226365	13	34160											
PAPPA2	60676	broad.mit.edu	37	chr1	176640105	176640105	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcttgcatgctctctaGggcatacatgagtgtgaagg	11	8	3	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:176640105G>T	ENST00000367662.3	+	4	3155		c.e4-1		PAPPA2_ENST00000367661.3_Splice_Site	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						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						ATGCTCTCTAGGGCATACATG	0.483																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.e4-1		pappalysin 2							167	165	166					1																	176640105		1967	4159	6126	SO:0001630	splice_region_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640105G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1992-1G>T	1.37:g.176640105G>T						PAPPA2_ENST00000367661.3_Splice_Site		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			4	3155	+								A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Splice_Site	SNP	ENST00000367662.3	37		CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567297	0.86439	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7796	0.91926	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	174906728	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.613000	0.98350	2.509000	0.84616	0.655000	0.94253	.		0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		Intron	20	804	1	0	5.26018e-13	1	5.54762e-13	20	804					T	176640105	G	T	176640105	5	4	95	1	0	0	0	0	0	0	1	0	11475	1014	35	3	2001	3	PAPPA2	1	176640105	Splice_Site	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	9615849	176640105	72610516	14	34161											
PPP1R12B	4660	broad.mit.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T													atgggggaattccaaggcagINSttttttttttccatgaaaat							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|RP11-175B9.2_ENST00000602961.1_RNA	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																																						ENST00000480184.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1495-1497)tttfs		protein phosphatase 1, regulatory subunit 12B																																				SO:0001627	intron_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202407189_202407190insT	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						PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR	p.F499fs	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1627_1628	+			499					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	ENST00000608999.1	37	c.1495_1496insT	CCDS1426.1																																																																																				0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		17	207						17	207	---	---	---	---	T	202407190	-	T	202407189	6	5	95	0	1	1	1	0	0	0	0	0	12402	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-IB-AAUP-01A-11D-A377-08	25767084	202407189	46843432	15	34162											
PROX1	5629	broad.mit.edu	37	chr1	214171209	214171209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgcccctggttgtccGcaaaaactcctctgaccagt	8	15	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr1:214171209G>A	ENST00000366958.4	+	2	1939	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	444					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)		CTGGTTGTCCGCAAAAACTCC	0.627																																						ENST00000366958.4																			0				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						c.(1330-1332)cGc>cAc		prospero homeobox 1							78	87	84					1																	214171209		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171209G>A	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.1331G>A	1.37:g.214171209G>A	ENSP00000355925:p.Arg444His					PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H	p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1939	+			444					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1331G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889855	0.72524	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.55760	0.54;0.5;0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73069	-0.4099	10	0.56958	D	0.05	-3.4891	19.6473	0.95784	0.0:0.0:1.0:0.0	.	444	Q92786	PROX1_HUMAN	H	16;444;444;444;444	ENSP00000420283:R444H;ENSP00000355925:R444H;ENSP00000400694:R444H;ENSP00000261454:R444H	ENSP00000261454:R444H	R	+	2	0	PROX1	212237832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.762000	0.74950	2.650000	0.89964	0.591000	0.81541	CGC		0.627	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		6	362	0	0	0	1	0	6	362					A	214171209	G	A	214171209	3	1	95	1	0	0	0	0	1	0	0	0	12607	1087	38	1	1333	1	PROX1	1	214171209	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	11764020	214171209	35079412	16	34163											
OTOF	9381	broad.mit.edu	37	chr2	26703112	26703112	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggcttgtctccgtttctcCggtcgatcattgaggcctcc	11	13	3	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:26703112C>T	ENST00000272371.2	-	16	1997	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000402415.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	624					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)	p.R624L(1)		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)					TCCGTTTCTCCGGTCGATCAT	0.577																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			1	Substitution - Missense(1)	p.R624L(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1870-1872)cGg>cAg		otoferlin							98	96	97					2																	26703112		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26703112C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1871G>A	2.37:g.26703112C>T	ENSP00000272371:p.Arg624Gln					OTOF_ENST00000403946.3_Missense_Mutation_p.R624Q	p.R624Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			16	1997	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		624					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1871G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377006	0.82682	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	D;D	0.82255	-1.59;-1.59	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91054	0.4880	10	0.34782	T	0.22	-26.7423	17.5382	0.87840	0.0:1.0:0.0:0.0	.	624	Q9HC10	OTOF_HUMAN	Q	624	ENSP00000272371:R624Q;ENSP00000385255:R624Q	ENSP00000272371:R624Q	R	-	2	0	OTOF	26556616	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	7.698000	0.84413	2.315000	0.78130	0.561000	0.74099	CGG		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			10	319	0	0	0	1	0	10	319					T	26703112	C	T	26703112	3	4	95	1	0	0	0	0	1	0	0	0	11345	652	23	1	4575	1	OTOF	2	26703112	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		26703112	216496261	17	34164											
RNF103	7844	broad.mit.edu	37	chr2	86839366	86839366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcccagtgaattttgCccaccaagggacttctgtca	7	12	3	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:86839366C>T	ENST00000237455.4	-	3	1366	c.398G>A	c.(397-399)gGc>gAc	p.G133D	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	133					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGAATTTTGCCCACCAAGGG	0.388																																						ENST00000237455.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						c.(397-399)gGc>gAc		ring finger protein 103							105	102	103					2																	86839366		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86839366C>T	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.398G>A	2.37:g.86839366C>T	ENSP00000237455:p.Gly133Asp					RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA	p.G133D	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN			3	1366	-			133					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.398G>A	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003290	0.54254	.	.	ENSG00000239305	ENST00000237455	T	0.44881	0.91	5.58	5.58	0.84498	.	0.048876	0.85682	D	0.000000	T	0.40979	0.1139	L	0.47716	1.5	0.52099	D	0.999943	P	0.37525	0.598	B	0.34722	0.188	T	0.36890	-0.9729	10	0.56958	D	0.05	-12.7616	19.5655	0.95391	0.0:1.0:0.0:0.0	.	133	O00237	RN103_HUMAN	D	133	ENSP00000237455:G133D	ENSP00000237455:G133D	G	-	2	0	RNF103	86692877	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.656000	0.61483	2.639000	0.89480	0.591000	0.81541	GGC		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2	NM_005667		5	382	0	0	0	1	0	5	382					T	86839366	C	T	86839366	3	4	95	1	0	0	0	0	1	0	0	0	13473	739	26	2	1667	2	RNF103	2	86839366	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	60136254	86839366	156360007	18	34165											
STARD7	56910	broad.mit.edu	37	chr2	96873900	96873900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacctctgcaactcctcctcCtggatcctctcctcgtccca	4	21	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:96873900C>T	ENST00000337288.5	-	1	656	c.273G>A	c.(271-273)caG>caA	p.Q91Q	AC012307.3_ENST00000446816.1_RNA	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	91						mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ACTCCTCCTCCTGGATCCTCT	0.697																																						ENST00000337288.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(271-273)caG>caA		StAR-related lipid transfer (START) domain containing 7							29	28	28					2																	96873900		2203	4300	6503	SO:0001819	synonymous_variant	56910					mitochondrion		g.chr2:96873900C>T	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.273G>A	2.37:g.96873900C>T							p.Q91Q	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN			1	656	-			91					D3DXG9|Q53T44|Q6GU43|Q969M6	Silent	SNP	ENST00000337288.5	37	c.273G>A	CCDS2017.2																																																																																				0.697	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			14	187	0	0	0	1	0	14	187					T	96873900	C	T	96873900	2	4	95	1	0	0	0	0	0	0	0	1	15314	680	24	2		2	STARD7	2	96873900	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	10034534	96873900	146325473	19	34166											
ACMSD	130013	broad.mit.edu	37	chr2	135621024	135621024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacgaccttgccagcacCgttgtgagctaccccaggag	10	14	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:135621024C>T	ENST00000356140.5	+	5	445	c.309C>T	c.(307-309)acC>acT	p.T103T	ACMSD_ENST00000392928.1_Silent_p.T45T|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Silent_p.T45T	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	103					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTGCCAGCACCGTTGTGAGCT	0.562																																						ENST00000356140.5																			0				endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14						c.(307-309)acC>acT		aminocarboxymuconate semialdehyde decarboxylase							89	83	85					2																	135621024		2203	4300	6503	SO:0001819	synonymous_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135621024C>T	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.309C>T	2.37:g.135621024C>T						ACMSD_ENST00000392928.1_Silent_p.T45T|ACMSD_ENST00000283054.4_Silent_p.T45T|AC016725.4_ENST00000392929.2_RNA	p.T103T	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	5	445	+			103					Q3B7X3|Q53SR5|Q96KY2	Silent	SNP	ENST00000356140.5	37	c.309C>T	CCDS2173.2																																																																																				0.562	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1			36	400	0	0	0	1	0	36	400					T	135621024	C	T	135621024	2	4	95	1	0	0	0	0	0	0	0	1	144	639	23	1		1	ACMSD	2	135621024	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	38747124	135621024	107578349	20	34167											
TTN	7273	broad.mit.edu	37	chr2	179600638	179600638	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgtttgttttctgcGtcggaaatcctccagttagg	10	7	1	0	rs184307461	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:179600638G>A	ENST00000591111.1	-	48	13808	c.13584C>T	c.(13582-13584)gaC>gaT	p.D4528D	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.D3601D|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Silent_p.D4845D|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12284	Ig-like 25.				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)			TGTTTTCTGCGTCGGAAATCC	0.443													G|||	3	0.000599042	0.0	0.0043	5008	,	,		20196	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14533-14535)gaC>gaT		titin		G	,,,	0,3874		0,0,1937	135	131	132		,10803,,	-0.5	0.5	2		132	2,8284		0,2,4141	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6078	AA,AG,GG		0.0241,0.0,0.0164	,,,	,3601/33424,,	179600638	2,12158	1937	4143	6080	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179600638G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13584C>T	2.37:g.179600638G>A						TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.D3601D|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.D4528D|TTN_ENST00000460472.2_Intron	p.D4845D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	14759	-			4528			Ig-like 28.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.14535C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	314	0	0	0	1	0	8	314					A	179600638	G	A	179600638	2	1	95	1	0	0	0	0	0	0	0	1	16789	1136	40	1		1	TTN	2	179600638	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	43979614	179600638	63598735	21	34168											
SPHKAP	80309	broad.mit.edu	37	chr2	228884216	228884216	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctggactctgaacaaCgacgattttggggagctcat	11	10	3	1	rs200812632		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr2:228884216C>T	ENST00000392056.3	-	7	1400	c.1354G>A	c.(1354-1356)Gtt>Att	p.V452I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	452						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V452I(2)		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)		CTCTGAACAACGACGATTTTG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		20681	0.0		0.001	False		,,,				2504	0.0					ENST00000392056.3																			2	Substitution - Missense(2)	p.V452I(2)	endometrium(2)	NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1354-1356)Gtt>Att		SPHK1 interactor, AKAP domain containing							99	97	98					2																	228884216		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884216C>T		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.1354G>A	2.37:g.228884216C>T	ENSP00000375909:p.Val452Ile					SPHKAP_ENST00000344657.5_Missense_Mutation_p.V452I	p.V452I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1400	-		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)	452					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1354G>A	CCDS46537.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.730	0.135652	0.09032	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05717	3.41;3.4	6.03	2.42	0.29668	.	0.043547	0.85682	N	0.000000	T	0.01353	0.0044	N	0.00332	-1.63	0.23440	N	0.997673	B;B	0.17465	0.002;0.022	B;B	0.08055	0.0;0.003	T	0.47674	-0.9099	10	0.02654	T	1	.	8.9785	0.35950	0.0:0.2142:0.0:0.7858	.	452;452	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	452	ENSP00000375909:V452I;ENSP00000339886:V452I	ENSP00000339886:V452I	V	-	1	0	SPHKAP	228592460	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.744000	0.55112	0.179000	0.19938	-0.302000	0.09304	GTT		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		12	341	0	0	0	1	0	12	341					T	228884216	C	T	228884216	3	4	95	1	0	0	0	0	1	0	0	0	15100	536	19	1	3772	1	SPHKAP	2	228884216	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	49283578	228884216	14315157	22	34169											
CSPG5	10675	broad.mit.edu	37	chr3	47618423	47618423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggcaggagccgttatgccGcacaaagccactgcggcact	12	15	0	0	rs372995316		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:47618423G>A	ENST00000383738.2	-	2	3191	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W|CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	365					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)		CCGTTATGCCGCACAAAGCCA	0.632																																						ENST00000383738.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22						c.(1093-1095)Cgg>Tgg		chondroitin sulfate proteoglycan 5 (neuroglycan C)							93	96	95					3																	47618423		2203	4299	6502	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618423G>A	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.1093C>T	3.37:g.47618423G>A	ENSP00000373244:p.Arg365Trp					CSPG5_ENST00000456150.1_Missense_Mutation_p.R227W|CSPG5_ENST00000264723.4_Missense_Mutation_p.R365W	p.R365W	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	3191	-			365					Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.1093C>T	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587159	0.66105	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.26810	1.76;1.73;1.71	4.63	-0.0101	0.13998	.	0.137586	0.46442	D	0.000299	T	0.39064	0.1064	L	0.44542	1.39	0.22581	N	0.998964	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.34725	-0.9817	10	0.72032	D	0.01	-10.6519	13.8559	0.63527	0.0:0.0:0.4812:0.5187	.	365;365	O95196;O95196-2	CSPG5_HUMAN;.	W	227;365;365	ENSP00000392096:R227W;ENSP00000373244:R365W;ENSP00000264723:R365W	ENSP00000264723:R365W	R	-	1	2	CSPG5	47593427	0.029000	0.19370	0.546000	0.28166	0.984000	0.73092	0.680000	0.25306	0.127000	0.18452	-0.182000	0.12963	CGG		0.632	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		6	564	0	0	0	1	0	6	564					A	47618423	G	A	47618423	3	1	95	1	0	0	0	0	1	0	0	0	3972	1086	38	1	542	1	CSPG5	3	47618423	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		47618423	150404007	23	34170											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000288139.4_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	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		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		9	449						9	449	---	---	---	---	-	53529195	GAT	-	53529193	7	5	95	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-IB-AAUP-01A-11D-A377-08	5910770	53529193	144493237	24	34171											
WNT5A	7474	broad.mit.edu	37	chr3	55504238	55504238	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaactggtcgtagccaCggccgcagcacatgagctcg	12	13	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:55504238C>T	ENST00000474267.1	-	6	1546	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H|WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H|WNT5A_ENST00000493406.1_5'Flank			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	342					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|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-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GTCGTAGCCACGGCCGCAGCA	0.632																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(1024-1026)cGt>cAt		wingless-type MMTV integration site family, member 5A							77	82	80					3																	55504238		2203	4300	6503	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504238C>T	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.1025G>A	3.37:g.55504238C>T	ENSP00000417310:p.Arg342His					WNT5A_ENST00000497027.1_Missense_Mutation_p.R327H|WNT5A_ENST00000264634.4_Missense_Mutation_p.R342H	p.R342H			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1546	-			342					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.1025G>A	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	C	35	5.549874	0.96501	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	T;T;T	0.80033	-1.33;-1.33;-1.33	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95589	0.8653	10	0.87932	D	0	.	19.7728	0.96373	0.0:1.0:0.0:0.0	.	342	P41221	WNT5A_HUMAN	H	342;342;253;327	ENSP00000417310:R342H;ENSP00000264634:R342H;ENSP00000420104:R327H	ENSP00000264634:R342H	R	-	2	0	WNT5A	55479278	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	7.813000	0.86123	2.687000	0.91594	0.655000	0.94253	CGT		0.632	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		11	435	0	0	0	1	0	11	435					T	55504238	C	T	55504238	3	4	95	1	0	0	0	0	1	0	0	0	17445	536	19	1	121	1	WNT5A	3	55504238	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1975045	55504238	142518192	25	34172											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	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.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		9	203						9	203	---	---	---	---	-	149260196	CTG	-	149260194	7	5	95	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-IB-AAUP-01A-11D-A377-08	93755956	149260194	48762236	26	34173											
KPNA4	3840	broad.mit.edu	37	chr3	160233331	160233331	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cttgtgtttgctcatcagttCcagtaacaatgttgcccaca	7	11	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:160233331C>G	ENST00000334256.4	-	12	1246	c.941G>C	c.(940-942)gGa>gCa	p.G314A	SCARNA7_ENST00000458797.1_RNA	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	314	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTCATCAGTTCCAGTAACAAT	0.383																																						ENST00000334256.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22						c.(940-942)gGa>gCa		karyopherin alpha 4 (importin alpha 3)							114	97	103					3																	160233331		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160233331C>G	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.941G>C	3.37:g.160233331C>G	ENSP00000334373:p.Gly314Ala						p.G314A	NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		12	1246	-			314			NLS binding site (minor) (By similarity).		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.941G>C	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102219	0.94245	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	T;T	0.32515	1.45;1.45	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76586	-0.2905	10	0.87932	D	0	-4.4791	19.8667	0.96806	0.0:1.0:0.0:0.0	.	314	O00629	IMA4_HUMAN	A	314;19	ENSP00000334373:G314A;ENSP00000417172:G19A	ENSP00000334373:G314A	G	-	2	0	KPNA4	161716025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.668000	0.83897	2.773000	0.95371	0.655000	0.94253	GGA		0.383	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		19	469	0	0	0	1	0	19	469					G	160233331	C	G	160233331	3	3	95	1	0	0	0	0	1	0	0	0	8462	855	30	5	648	5	KPNA4	3	160233331	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	10973137	160233331	37789099	27	34174											
SLC7A14	57709	broad.mit.edu	37	chr3	170198388	170198388	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagatggtcaccgtgtgcccCgtcgctgctgtgggccggtc	15	14	1	1	rs373511991		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:170198388C>T	ENST00000231706.5	-	7	1998	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	561					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)			CCGTGTGCCCCGTCGCTGCTG	0.507																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1681-1683)acG>acA		solute carrier family 7, member 14							87	80	83					3																	170198388		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198388C>T	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.1683G>A	3.37:g.170198388C>T						CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.T561T	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1998	-	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)		561					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1683G>A	CCDS33892.1																																																																																				0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		5	334	0	0	0	1	0	5	334					T	170198388	C	T	170198388	2	4	95	1	0	0	0	0	0	0	0	1	14746	639	23	1		1	SLC7A14	3	170198388	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	9965057	170198388	27824042	28	34175											
ATP13A3	79572	broad.mit.edu	37	chr3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-													cgccactcaggcatccaataGaggaggaggaggagaaaccc							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						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)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	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.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	512						7	512	---	---	---	---	-	194181473	GAG	-	194181471	7	5	95	1	0	1	0	1	0	0	0	0	1126	929	33	0	3659	0	ATP13A3	3	194181471	In_Frame_Del	DEL	GAG	TCGA-IB-AAUP-01A-11D-A377-08	23983083	194181471	3840959	29	34176											
SORBS2	8470	broad.mit.edu	37	chr4	186544636	186544636	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcggtggtggtggtggtgGtgatggtggtggtggtggct	25	2	0	1	rs267600109		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr4:186544636G>A	ENST00000284776.7	-	13	2444	c.1935C>T	c.(1933-1935)caC>caT	p.H645H	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000431808.1_Silent_p.H645H|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	645	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)	p.H645H(1)		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)		ggtggtggtggtgatggtggt	0.527																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - coding silent(1)	p.H645H(1)	endometrium(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1933-1935)caC>caT		sorbin and SH3 domain containing 2							54	54	54					4																	186544636		2202	4300	6502	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544636G>A		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.1935C>T	4.37:g.186544636G>A						SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.H645H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron	p.H645H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2498	-		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)	645			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1935C>T	CCDS3845.1																																																																																				0.527	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	228	0	0	0	1	0	4	228					A	186544636	G	A	186544636	2	1	95	1	0	0	0	0	0	0	0	1	14978	1252	44	2		2	SORBS2	4	186544636	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		186544636	4609640	30	34177											
FAM105A	54491	broad.mit.edu	37	chr5	14608915	14608915	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtatgtgcaacacccTtttttcagatgccattctgg	9	9	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:14608915T>C	ENST00000274217.3	+	7	806	c.686T>C	c.(685-687)cTt>cCt	p.L229P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	229	OTU.							p.S231fs*13(1)		large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGCAACACCCTTTTTTCAGAT	0.328																																						ENST00000274217.3																			1	Deletion - Frameshift(1)	p.S231fs*13(1)	large_intestine(1)	large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(685-687)cTt>cCt		family with sequence similarity 105, member A							77	77	77					5																	14608915		2203	4300	6503	SO:0001583	missense	54491							g.chr5:14608915T>C		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.686T>C	5.37:g.14608915T>C	ENSP00000274217:p.Leu229Pro						p.L229P	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			7	806	+	Lung NSC(4;0.00592)		229					Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	37	c.686T>C	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162069	0.57368	.	.	ENSG00000145569	ENST00000274217	T	0.16597	2.33	4.89	4.89	0.63831	.	0.109676	0.40064	N	0.001185	T	0.41213	0.1149	M	0.72894	2.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.37454	-0.9705	10	0.87932	D	0	-8.3487	14.4858	0.67616	0.0:0.0:0.0:1.0	.	229	Q9NUU6	F105A_HUMAN	P	229	ENSP00000274217:L229P	ENSP00000274217:L229P	L	+	2	0	FAM105A	14661915	0.991000	0.36638	0.996000	0.52242	0.879000	0.50718	4.189000	0.58358	1.819000	0.53055	0.477000	0.44152	CTT		0.328	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		5	334	0	0	0	1	0	5	334					C	14608915	T	C	14608915	3	2	95	1	0	0	0	0	1	0	0	0	5408	1609	56	4	712	4	FAM105A	5	14608915	Missense_Mutation	SNP	T	TCGA-IB-AAUP-01A-11D-A377-08		14608915	166306345	31	34178											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	542						8	542	---	---	---	---	-	32090061	TCC	-	32090059	7	5	95	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-IB-AAUP-01A-11D-A377-08	17481144	32090059	148825201	32	34179											
SKP2	6502	broad.mit.edu	37	chr5	36168477	36168477	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgtccaccctccacgGcatactgtctcagtgttcca	8	14	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:36168477G>A	ENST00000274255.6	+	5	795	c.599G>A	c.(598-600)gGc>gAc	p.G200D	SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)	p.G200D(2)		breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCTCCACGGCATACTGTCT	0.507																																						ENST00000274255.6																			2	Substitution - Missense(2)	p.G200D(2)	lung(2)	breast(1)|central_nervous_system(2)|ovary(1)	4						c.(598-600)gGc>gAc		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							212	213	212					5																	36168477		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36168477G>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"F-boxes / Leucine-rich repeats"	10901	protein-coding gene	gene with protein product		601436	"S-phase kinase-associated protein 2 (p45)"			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.599G>A	5.37:g.36168477G>A	ENSP00000274255:p.Gly200Asp					SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.G200D|SKP2_ENST00000546211.1_Intron	p.G200D	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		5	795	+	all_lung(31;5.63e-05)		200					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.599G>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514246	0.04200	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927	T;T	0.41758	0.99;0.99	5.43	-0.0819	0.13701	.	0.441048	0.27185	N	0.020531	T	0.18299	0.0439	N	0.16098	0.37	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.002	T	0.20505	-1.0273	10	0.12103	T	0.63	-2.8353	5.5651	0.17167	0.3435:0.1319:0.5247:0.0	.	200;200	Q13309-2;Q13309	.;SKP2_HUMAN	D	200;200;166	ENSP00000274254:G200D;ENSP00000274255:G200D	ENSP00000274254:G200D	G	+	2	0	SKP2	36204234	0.662000	0.27439	0.015000	0.15790	0.449000	0.32228	0.249000	0.18216	-0.065000	0.13021	-0.251000	0.11542	GGC		0.507	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		6	923	0	0	0	1	0	6	923					A	36168477	G	A	36168477	3	1	95	1	0	0	0	0	1	0	0	0	14412	1203	42	2	617	2	SKP2	5	36168477	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	4078418	36168477	144746783	33	34180											
TAF9	6880	broad.mit.edu	37	chr5	68660786	68660788	+	In_Frame_Del	DEL	TCA	TCA	-													tagattacagattatcatagTcatcatcatcatcatcgtca					rs138635374		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:68660786_68660788delTCA	ENST00000328663.4	-	3	1243_1245	c.777_779delTGA	c.(775-780)gatgac>gac	p.259_260DD>D	TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.259_260DD>D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.259_260DD>D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	259	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		attatcatagtcatcatcatcat	0.33																																						ENST00000328663.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(775-780)gac>ga		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa			,,,	1,1,4264		0,0,1,0,1,2131					,,,	3.4	1		dbSNP_134	103	5,0,8249		0,0,5,0,0,4122	no	intron,codingComplex,codingComplex,intron	TAF9	NM_016283.4,NM_003187.4,NM_001015892.1,NM_001015891.1	,,,	0,0,6,0,1,6253	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.0469,0.0559	,,,	,,,		6,1,12513				SO:0001651	inframe_deletion	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660786_68660788delTCA	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.777_779delTGA	5.37:g.68660795_68660797delTCA	ENSP00000370193:p.Asp260del					TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DD259del|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.DD259del	p.DD259del	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1243_1245	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	63					D3DWA3|Q5U0D1|Q9BTS1	In_Frame_Del	DEL	ENST00000328663.4	37	c.777_779delTGA	CCDS4002.1																																																																																				0.33	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		7	826						7	826	---	---	---	---	-	68660788	TCA	-	68660786	7	5	95	1	0	1	0	1	0	0	0	0	15587	1667	58	0	429	0	TAF9	5	68660786	In_Frame_Del	DEL	TCA	TCGA-IB-AAUP-01A-11D-A377-08	32492309	68660786	112254474	34	34181											
RAD17	5884	broad.mit.edu	37	chr5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggtttctaataaaTaaaaaggtaaaaaaaaaaaa	5	4	2	0	rs200909538	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	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)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19	19	19					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	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.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;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;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		12	94	0	0	0	1	0	12	94					A	68692367	T	A	68692367	3	1	95	1	0	0	0	0	1	0	0	0	13029	1403	49	5	1662	5	RAD17	5	68692367	Missense_Mutation	SNP	T	TCGA-IB-AAUP-01A-11D-A377-08	31581	68692367	112222893	35	34182											
HSPA4	3308	broad.mit.edu	37	chr5	132432935	132432935	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaatatgtgtatgaaatgaGagacaagcttagtggtgaat	13	2	0	4			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:132432935G>A	ENST00000304858.2	+	15	2175	c.1886G>A	c.(1885-1887)aGa>aAa	p.R629K		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	629					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATGAAATGAGAGACAAGCTT	0.393																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1885-1887)aGa>aAa		heat shock 70kDa protein 4							249	230	236					5																	132432935		2203	4300	6503	SO:0001583	missense	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132432935G>A	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1886G>A	5.37:g.132432935G>A	ENSP00000302961:p.Arg629Lys						p.R629K	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2175	+			629					O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	ENST00000304858.2	37	c.1886G>A	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308483	0.95629	.	.	ENSG00000170606	ENST00000304858	T	0.12879	2.64	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	M	0.83953	2.67	0.80722	D	1	B	0.21071	0.051	B	0.23150	0.044	T	0.03684	-1.1013	10	0.66056	D	0.02	-17.85	14.6068	0.68486	0.0695:0.0:0.9305:0.0	.	629	P34932	HSP74_HUMAN	K	629	ENSP00000302961:R629K	ENSP00000302961:R629K	R	+	2	0	HSPA4	132460834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.455000	0.47813	0.579000	0.79373	AGA		0.393	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		14	503	0	0	0	1	0	14	503					A	132432935	G	A	132432935	3	1	95	1	0	0	0	0	1	0	0	0	7442	942	33	2	1944	2	HSPA4	5	132432935	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	63740568	132432935	48482325	36	34183											
PCDHA2	56146	broad.mit.edu	37	chr5	140176604	140176604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcgcgggcgtgggtgggCgccgcgggctcagaggctac	20	12	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176604C>T	ENST00000526136.1	+	1	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHA2_ENST00000378132.1_Silent_p.G685G|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.G685G|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	685					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)			CGTGGGTGGGCGCCGCGGGCT	0.642																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2053-2055)ggC>ggT									72	75	74					5																	140176604		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140176604C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2055C>T	5.37:g.140176604C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.G685G|PCDHA2_ENST00000378132.1_Silent_p.G685G	p.G685G	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2055	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.2055C>T	CCDS54914.1																																																																																				0.642	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		15	483	0	0	0	1	0	15	483					T	140176604	C	T	140176604	2	4	95	1	0	0	0	0	0	0	0	1	11566	755	27	1		1	PCDHA2	5	140176604	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	7743669	140176604	40738656	37	34184											
PCDHA2	56146	broad.mit.edu	37	chr5	140176666	140176666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatcatcgccatctgcgCggtatccagcctgttggtgc	11	14	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140176666C>T	ENST00000526136.1	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A706V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A706V|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	706					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.A706V(2)		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)			GCCATCTGCGCGGTATCCAGC	0.692																																						ENST00000526136.1																			2	Substitution - Missense(2)	p.A706V(2)	breast(2)	NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2116-2118)gCg>gTg									86	84	85					5																	140176666		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176666C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2117C>T	5.37:g.140176666C>T	ENSP00000431748:p.Ala706Val					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A706V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A706V	p.A706V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2117	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2117C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.54	3.150943	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.80033	-1.33;-1.33;-1.33	4.0	3.1	0.35709	.	0.207607	0.22950	U	0.053675	D	0.82426	0.5034	M	0.93462	3.42	0.23879	N	0.99658	P;B;P	0.35456	0.502;0.027;0.502	B;B;B	0.33750	0.169;0.008;0.169	T	0.75769	-0.3201	10	0.49607	T	0.09	.	7.6207	0.28183	0.0:0.7431:0.1674:0.0895	.	706;706;706	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	706	ENSP00000430584:A706V;ENSP00000367372:A706V;ENSP00000431748:A706V	ENSP00000367372:A706V	A	+	2	0	PCDHA2	140156850	0.000000	0.05858	0.993000	0.49108	0.912000	0.54170	1.011000	0.29911	0.773000	0.33404	0.585000	0.79938	GCG		0.692	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		17	530	0	0	0	1	0	17	530					T	140176666	C	T	140176666	3	4	95	1	0	0	0	0	1	0	0	0	11566	768	27	1	2119	1	PCDHA2	5	140176666	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	62	140176666	40738594	38	34185											
PCDHB5	26167	broad.mit.edu	37	chr5	140516722	140516722	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgctgcagaacggctcggCgccttgcaccgagctggtgc	14	15	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:140516722C>T	ENST00000231134.5	+	1	1923	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	569	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGGCTCGGCGCCTTGCACC	0.721																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1705-1707)gCg>gTg									21	26	24					5																	140516722		2195	4284	6479	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516722C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"Cadherins / Protocadherins : Clustered"	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1706C>T	5.37:g.140516722C>T	ENSP00000231134:p.Ala569Val						p.A569V	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1923	+			569			Cadherin 6.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1706C>T	CCDS4247.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.96|10.96	1.499565|1.499565	0.26861|0.26861	.|.	.|.	ENSG00000113209|ENSG00000113209	ENST00000231134|ENST00000537936	T|.	0.60299|.	0.2|.	4.48|4.48	4.48|4.48	0.54585|0.54585	Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.53286|0.53286	0.1787|0.1787	L|L	0.51422|0.51422	1.61|1.61	0.31007|0.31007	N|N	0.719717|0.719717	B|.	0.27068|.	0.167|.	B|.	0.24269|.	0.052|.	T|T	0.60541|0.60541	-0.7243|-0.7243	9|6	0.62326|0.87932	D|D	0.03|0	.|.	12.394|12.394	0.55374|0.55374	0.215:0.785:0.0:0.0|0.215:0.785:0.0:0.0	.|.	569|.	Q9Y5E4|.	PCDB5_HUMAN|.	V|C	569|353	ENSP00000231134:A569V|.	ENSP00000231134:A569V|ENSP00000446220:R353C	A|R	+|+	2|1	0|0	PCDHB5|PCDHB5	140496906|140496906	0.000000|0.000000	0.05858|0.05858	0.971000|0.971000	0.41717|0.41717	0.062000|0.062000	0.15995|0.15995	0.396000|0.396000	0.20867|0.20867	2.214000|2.214000	0.71695|0.71695	0.194000|0.194000	0.17425|0.17425	GCG|CGC		0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		11	310	0	0	0	1	0	11	310					T	140516722	C	T	140516722	3	4	95	1	0	0	0	0	1	0	0	0	11587	768	27	1	1708	1	PCDHB5	5	140516722	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	340056	140516722	40398538	39	34186											
PPP2R2B	5521	broad.mit.edu	37	chr5	145979904	145979904	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgagatcccagactttgaCggtcaagtagtccctggtca	11	10	2	3	rs369931023		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:145979904C>T	ENST00000394413.3	-	7	1480	c.910G>A	c.(910-912)Gtc>Atc	p.V304I	PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	304					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)			CAGACTTTGACGGTCAAGTAG	0.458													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19514	0.0		0.0	False		,,,				2504	0.0					ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(910-912)Gtc>Atc		protein phosphatase 2, regulatory subunit B, beta		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	162	158	159		877,850,919,910,910,910,910	4	0.9	5		159	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_181678.2,NM_181677.2,NM_181676.2,NM_181675.2,NM_181674.2,NM_004576.2,NM_001127381.1	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	293/433,284/424,307/447,304/444,304/444,304/444,304/444	145979904	1,13005	2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145979904C>T	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.910G>A	5.37:g.145979904C>T	ENSP00000377935:p.Val304Ile					PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V307I|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V304I|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V310I|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V304I|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V293I|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V362I|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V304I|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V370I	p.V304I			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1480	-			304					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.910G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450488	0.63290	0.0	1.16E-4	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.8	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058449	0.64402	D	0.000002	T	0.26412	0.0645	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B;B	0.28998	0.23;0.063;0.036;0.23;0.119;0.036	B;B;B;B;B;B	0.23852	0.049;0.029;0.029;0.04;0.029;0.029	T	0.03784	-1.1004	10	0.52906	T	0.07	-6.6079	12.7697	0.57412	0.0:0.8663:0.0:0.1337	.	362;310;293;370;307;304	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	I	304;293;370;304;304;304;293;307;310;362	ENSP00000377935:V304I;ENSP00000431320:V293I;ENSP00000377936:V370I;ENSP00000377933:V304I;ENSP00000349283:V304I;ENSP00000398779:V304I;ENSP00000377932:V293I;ENSP00000336591:V307I;ENSP00000421396:V310I;ENSP00000377931:V362I	ENSP00000336591:V307I	V	-	1	0	AC011357.1	145960097	1.000000	0.71417	0.912000	0.35992	0.976000	0.68499	6.088000	0.71371	0.805000	0.34159	0.655000	0.94253	GTC		0.458	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		15	496	0	0	0	1	0	15	496					T	145979904	C	T	145979904	3	4	95	1	0	0	0	0	1	0	0	0	12432	536	19	1	433	1	PPP2R2B	5	145979904	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	5463182	145979904	34935356	40	34187											
ODZ2	57451	broad.mit.edu	37	chr5	167420045	167420045	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaacggtttacacgcccccGccccgcctgctgcccaggaa	11	18	0	0	rs146310303	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr5:167420045G>A	ENST00000518659.1	+	5	1083	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	TENM2_ENST00000519204.1_Silent_p.P227P|TENM2_ENST00000403607.2_Silent_p.P181P|TENM2_ENST00000545108.1_Silent_p.P348P|TENM2_ENST00000520394.1_Silent_p.P157P	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	348	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)	p.P227P(1)|p.P348P(1)|p.P181P(1)									ACACGCCCCCGCCCCGCCTGC	0.582													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16842	0.0		0.0	False		,,,				2504	0.0					ENST00000519204.1																			3	Substitution - coding silent(3)	p.P227P(1)|p.P348P(1)|p.P181P(1)	endometrium(3)								c.(679-681)ccG>ccA		teneurin transmembrane protein 2		G		5,3771		0,5,1883	60	63	62		1044	-11.1	0.7	5	dbSNP_134	62	1,8193		0,1,4096	no	coding-synonymous	ODZ2	NM_001122679.1		0,6,5979	AA,AG,GG		0.0122,0.1324,0.0501		348/2766	167420045	6,11964	1888	4097	5985	SO:0001819	synonymous_variant	57451							g.chr5:167420045G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1044G>A	5.37:g.167420045G>A						TENM2_ENST00000520394.1_Silent_p.P157P|TENM2_ENST00000545108.1_Silent_p.P348P|TENM2_ENST00000518659.1_Silent_p.P348P|TENM2_ENST00000403607.2_Silent_p.P181P	p.P227P							4	799	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.681G>A																																																																																					0.582	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		11	332	0	0	0	1	0	11	332					A	167420045	G	A	167420045	2	1	95	1	0	0	0	0	0	0	0	1	10877	1074	38	1		1	ODZ2	5	167420045	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	21440141	167420045	13495215	41	34188											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		12	699						12	699	---	---	---	---	-	33411203	CAC	-	33411201	7	5	95	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-IB-AAUP-01A-11D-A377-08		33411201	137703866	42	34189											
TULP1	7287	broad.mit.edu	37	chr6	35478775	35478777	+	In_Frame_Del	DEL	TCC	TCC	-													cgtcctcctcgtcctcctctTcctcctcctcctctgcaggt							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:35478775_35478777delTCC	ENST00000229771.6	-	5	439_441	c.360_362delGGA	c.(358-363)gaggaa>gaa	p.120_121EE>E	TULP1_ENST00000322263.4_In_Frame_Del_p.67_68EE>E	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	120	Poly-Glu.		Missing (in RP14). {ECO:0000269|PubMed:9660588}.		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						gtcctcctcttcctcctcctcct	0.567																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(358-363)gaa>ga		tubby like protein 1				3,4259		0,3,2128						-2.5	0			60	15,8235		0,15,4110	no	coding	TULP1	NM_003322.3		0,18,6238	A1A1,A1R,RR		0.1818,0.0704,0.1439				18,12494				SO:0001651	inframe_deletion	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35478775_35478777delTCC	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.360_362delGGA	6.37:g.35478784_35478786delTCC	ENSP00000229771:p.Glu123del					TULP1_ENST00000322263.4_In_Frame_Del_p.EE69del	p.EE122del	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			5	439_441	-			122		Missing (in RP14).	Poly-Glu.		O43536|Q5TGM5|Q8N571	In_Frame_Del	DEL	ENST00000229771.6	37	c.360_362delGGA	CCDS4807.1																																																																																				0.567	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			8	431						8	431	---	---	---	---	-	35478777	TCC	-	35478775	7	5	95	1	0	1	0	1	0	0	0	0	16827	1783	62	0	1310	0	TULP1	6	35478775	In_Frame_Del	DEL	TCC	TCGA-IB-AAUP-01A-11D-A377-08	2067574	35478775	135636292	43	34190											
LRFN2	57497	broad.mit.edu	37	chr6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggagctgccaaaagtccccCgggcccccaccaggtcactc	10	19	1	0	rs146316351	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:40359728C>T	ENST00000338305.6	-	3	2866	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	775						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)					AAAAGTCCCCCGGGCCCCCAC	0.607													C|||	3	0.000599042	0.0023	0.0	5008	,	,		13249	0.0		0.0	False		,,,				2504	0.0					ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2323-2325)cGg>cAg		leucine rich repeat and fibronectin type III domain containing 2		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	42	44	44		2324	4.4	1	6	dbSNP_134	44	0,8600		0,0,4300	yes	missense	LRFN2	NM_020737.1	43	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign	775/790	40359728	4,13002	2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40359728C>T	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.2324G>A	6.37:g.40359728C>T	ENSP00000345985:p.Arg775Gln						p.R775Q	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2866	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		775					A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.2324G>A	CCDS34443.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.74	1.728986	0.30684	9.08E-4	0.0	ENSG00000156564	ENST00000338305	T	0.58060	0.36	5.27	4.39	0.52855	.	0.100654	0.64402	D	0.000004	T	0.13030	0.0316	N	0.14661	0.345	0.22489	N	0.999054	B	0.33857	0.429	B	0.20184	0.028	T	0.02471	-1.1154	10	0.44086	T	0.13	.	6.092	0.19999	0.0:0.7541:0.0:0.2459	.	775	Q9ULH4	LRFN2_HUMAN	Q	775	ENSP00000345985:R775Q	ENSP00000345985:R775Q	R	-	2	0	LRFN2	40467706	0.997000	0.39634	0.964000	0.40570	0.675000	0.39556	2.529000	0.45632	2.466000	0.83321	0.555000	0.69702	CGG		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		6	226	0	0	0	1	0	6	226					T	40359728	C	T	40359728	3	4	95	1	0	0	0	0	1	0	0	0	8976	652	23	1	49	1	LRFN2	6	40359728	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	4880953	40359728	130755339	44	34191											
TCTE1	202500	broad.mit.edu	37	chr6	44254126	44254126	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggtgggccacgtggcacaCgggccagcgatgcatgcagc	16	12	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:44254126C>T	ENST00000371505.4	-	3	543	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_De_novo_Start_InFrame	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	141										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)			ACGTGGCACACGGGCCAGCGA	0.607																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(421-423)Gtg>Atg		t-complex-associated-testis-expressed 1							83	78	79					6																	44254126		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44254126C>T	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.421G>A	6.37:g.44254126C>T	ENSP00000360560:p.Val141Met					TCTE1_ENST00000371503.3_De_novo_Start_InFrame|TMEM151B_ENST00000438774.2_Intron	p.V141M	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	543	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		141					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.421G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205486	0.58234	.	.	ENSG00000146221	ENST00000371505	T	0.56103	0.48	4.95	4.08	0.47627	.	0.130007	0.53938	D	0.000059	T	0.45438	0.1342	M	0.78801	2.425	0.80722	D	1	D	0.57257	0.979	P	0.44518	0.452	T	0.56601	-0.7952	10	0.72032	D	0.01	-28.4028	13.2188	0.59875	0.0:0.9224:0.0:0.0776	.	141	Q5JU00	TCTE1_HUMAN	M	141	ENSP00000360560:V141M	ENSP00000360560:V141M	V	-	1	0	TCTE1	44362104	0.355000	0.24921	0.987000	0.45799	0.989000	0.77384	0.902000	0.28459	1.079000	0.41038	-0.251000	0.11542	GTG		0.607	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		5	328	0	0	0	1	0	5	328					T	44254126	C	T	44254126	3	4	95	1	0	0	0	0	1	0	0	0	15769	536	19	1	1096	1	TCTE1	6	44254126	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	3894398	44254126	126860941	45	34192											
TTK	7272	broad.mit.edu	37	chr6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A													ttcatcctccaagacttttgINSaaaaaaaaaggggaaaaaaa							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					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.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(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)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		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.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			18	622						18	622	---	---	---	---	A	80751897	-	A	80751896	7	5	95	1	0	1	1	0	0	0	0	0	16774	1291	45	0	2633	0	TTK	6	80751896	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08	36497770	80751896	90363171	46	34193											
MDN1	23195	broad.mit.edu	37	chr6	90453401	90453401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttctgatttgccaaggctGcaaatacctgacagatagta	8	8	1	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:90453401G>A	ENST00000369393.3	-	30	4326	c.4211C>T	c.(4210-4212)gCa>gTa	p.A1404V	MDN1_ENST00000428876.1_Missense_Mutation_p.A1404V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1404					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)		TGCCAAGGCTGCAAATACCTG	0.463																																						ENST00000369393.3																			0				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						c.(4210-4212)gCa>gTa		MDN1, midasin homolog (yeast)							119	113	115					6																	90453401		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90453401G>A	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.4211C>T	6.37:g.90453401G>A	ENSP00000358400:p.Ala1404Val					MDN1_ENST00000428876.1_Missense_Mutation_p.A1404V	p.A1404V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	30	4326	-		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)	1404					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4211C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299744	0.81136	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.60548	0.18;0.18	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.054981	0.64402	D	0.000001	D	0.84754	0.5542	H	0.98646	4.29	0.58432	D	0.999992	D	0.76494	0.999	D	0.80764	0.994	D	0.90653	0.4584	10	0.87932	D	0	.	19.3403	0.94337	0.0:0.0:1.0:0.0	.	1404	Q9NU22	MDN1_HUMAN	V	1404	ENSP00000358400:A1404V;ENSP00000413970:A1404V	ENSP00000358400:A1404V	A	-	2	0	MDN1	90510122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.689000	0.98673	2.562000	0.86427	0.563000	0.77884	GCA		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	642	0	0	0	1	0	6	642					A	90453401	G	A	90453401	3	1	95	1	0	0	0	0	1	0	0	0	9456	1319	46	2	12871	2	MDN1	6	90453401	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	9701505	90453401	80661666	47	34194											
NCOA7	135112	broad.mit.edu	37	chr6	126176317	126176317	+	Frame_Shift_Del	DEL	A	A	-													aggaatatatgactgatgagAaaaaaaagagaaaaagtaat							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:126176317delA	ENST00000368357.3	+	4	554	c.202delA	c.(202-204)aaafs	p.K70fs	NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	70					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)		GACTGATGAGAAAAAAAAGAG	0.358																																						ENST00000368357.3																			0				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						c.(202-204)aafs		nuclear receptor coactivator 7							143	158	153					6																	126176317		2203	4300	6503	SO:0001589	frameshift_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126176317delA	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.202delA	6.37:g.126176317delA	ENSP00000357341:p.Lys70fs					NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs	p.K70fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	4	554	+			70					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Frame_Shift_Del	DEL	ENST00000368357.3	37	c.202delA	CCDS5132.1																																																																																				0.358	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		9	878						9	878	---	---	---	---	-	126176317	A	-	126176317	7	5	95	1	0	1	0	1	0	0	0	0	10276	247	9	0	208	0	NCOA7	6	126176317	Frame_Shift_Del	DEL	A	TCGA-IB-AAUP-01A-11D-A377-08	35722916	126176317	44938750	48	34195											
NMBR	4829	broad.mit.edu	37	chr6	142409703	142409703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtcccgtccgaggcCggcaggaaatccctttccca	13	14	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:142409703C>T	ENST00000258042.1	-	1	233	c.93G>A	c.(91-93)ccG>ccA	p.P31P	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	31					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTCCGAGGCCGGCAGGAAAT	0.607																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(91-93)ccG>ccA		neuromedin B receptor							46	45	46					6																	142409703		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409703C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"GPCR / Class A : Bombesin receptors"	7843	protein-coding gene	gene with protein product	"bombesin receptor 1"	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.93G>A	6.37:g.142409703C>T						RP11-137J7.2_ENST00000454401.1_RNA	p.P31P	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	233	-	Breast(32;0.155)		31					E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.93G>A	CCDS5196.1																																																																																				0.607	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			4	172	0	0	0	1	0	4	172					T	142409703	C	T	142409703	2	4	95	1	0	0	0	0	0	0	0	1	10529	639	23	1		1	NMBR	6	142409703	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	16233386	142409703	28705364	49	34196											
RAET1G	353091	broad.mit.edu	37	chr6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catccacctggccttgaaccGcacaccaccgtggtccaggt	9	17	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1E-AS1_ENST00000446954.2_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532																																						ENST00000367360.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(151-153)gCg>gTg		retinoic acid early transcript 1G							99	100	100					6																	150240886		2203	4297	6500	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240886G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.152C>T	6.37:g.150240886G>A	ENSP00000356329:p.Ala51Val					RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	p.A51V	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	219	-		Ovarian(120;0.0907)	51			MHC class I alpha-1 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.152C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934055	0.18206	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.05382	3.45;3.45	2.4	-0.278	0.12894	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	0.00608	0.0020	N	0.00621	-1.32	0.09310	N	1	B	0.20671	0.047	B	0.25140	0.058	T	0.46190	-0.9209	9	0.41790	T	0.15	.	6.668	0.23052	0.0:0.0:0.5193:0.4807	.	51	Q6H3X3	RET1G_HUMAN	V	51	ENSP00000356329:A51V;ENSP00000417503:A51V	ENSP00000356329:A51V	A	-	2	0	RAET1G	150282579	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.722000	0.04958	-0.045000	0.13468	-0.558000	0.04189	GCG		0.532	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			5	540	0	0	0	1	0	5	540					A	150240886	G	A	150240886	3	1	95	1	0	0	0	0	1	0	0	0	13050	1087	38	1	868	1	RAET1G	6	150240886	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	7831183	150240886	20874181	50	34197											
LPA	4018	broad.mit.edu	37	chr6	161020531	161020531	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtaaagaacaaagacgtaCgcatttgggtagttttctgg	12	5	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr6:161020531C>T	ENST00000316300.5	-	20	3332		c.e20+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						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)	CAAAGACGTACGCATTTGGGT	0.483																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.e21+1		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						287	311	303					6																	161020531		2200	4299	6499	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020531C>T	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.3287+1G>A	6.37:g.161020531C>T						LPA_ENST00000316300.5_Splice_Site		NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3408	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)						Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37		CCDS43523.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446431	0.25987	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.48	2.48	0.30137	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4117	0.32646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160940521	1.000000	0.71417	0.930000	0.37139	0.007000	0.05969	3.793000	0.55484	1.361000	0.45981	0.436000	0.28706	.		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Intron	56	1687	0	0	0	1	0	56	1687					T	161020531	C	T	161020531	5	4	95	1	0	0	0	0	0	0	1	0	8941	550	19	1	2914	1	LPA	6	161020531	Splice_Site	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	10779645	161020531	10094536	51	34198											
INTS1	26173	broad.mit.edu	37	chr7	1542704	1542704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggacaacgcggccgccGcatcccgcttgcgctcagaa	11	17	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:1542704G>A	ENST00000404767.3	-	3	267	c.182C>T	c.(181-183)gCg>gTg	p.A61V	INTS1_ENST00000389470.4_Missense_Mutation_p.A189V|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	61	Poly-Ala.				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)		CGCGGCCGCCGCATCCCGCTT	0.657																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(565-567)gCg>gTg		integrator complex subunit 1							55	68	64					7																	1542704		2021	4166	6187	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542704G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.182C>T	7.37:g.1542704G>A	ENSP00000385722:p.Ala61Val					INTS1_ENST00000404767.3_Missense_Mutation_p.A61V	p.A189V			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	565	-		Ovarian(82;0.0253)	61					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.566C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184869	0.57909	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.83;0.83	4.61	3.72	0.42706	.	0.137694	0.49916	D	0.000129	T	0.43897	0.1268	L	0.61218	1.895	0.45354	D	0.998342	P;P	0.43750	0.816;0.816	B;B	0.36766	0.232;0.116	T	0.52660	-0.8546	10	0.72032	D	0.01	.	13.7251	0.62754	0.0:0.156:0.844:0.0	.	189;61	A4D212;Q8N201	.;INT1_HUMAN	V	61;189	ENSP00000385722:A61V;ENSP00000374121:A189V	ENSP00000374121:A189V	A	-	2	0	INTS1	1509230	1.000000	0.71417	0.767000	0.31495	0.393000	0.30537	5.086000	0.64474	1.134000	0.42165	0.563000	0.77884	GCG		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			6	439	0	0	0	1	0	6	439					A	1542704	G	A	1542704	3	1	95	1	0	0	0	0	1	0	0	0	7805	1087	38	1	6574	1	INTS1	7	1542704	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		1542704	157595959	52	34199											
PAPOLB	56903	broad.mit.edu	37	chr7	4899881	4899881	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agacaagtcaaagctgctgtCgttcaaatctgtcaatcttc	7	10	5	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:4899881C>T	ENST00000404991.1	-	1	1744	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	520					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)		AAGCTGCTGTCGTTCAAATCT	0.458																																						ENST00000404991.1																			0				kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14						c.(1558-1560)Gac>Aac		poly(A) polymerase beta (testis specific)							89	82	84					7																	4899881		1989	4207	6196	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4899881C>T	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.1558G>A	7.37:g.4899881C>T	ENSP00000384700:p.Asp520Asn					RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	p.D520N	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	1744	-		Ovarian(82;0.0175)	520					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.1558G>A		.	.	.	.	.	.	.	.	.	.	C	4.337	0.061936	0.08339	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	T	0.49609	0.1567	L	0.34521	1.04	0.52501	D	0.999953	B	0.10296	0.003	B	0.09377	0.004	T	0.39057	-0.9632	8	0.17369	T	0.5	.	14.9342	0.70941	0.0:1.0:0.0:0.0	.	521	A4D1Z6	.	N	520	.	ENSP00000384700:D520N	D	-	1	0	PAPOLB	4866407	1.000000	0.71417	0.119000	0.21687	0.038000	0.13279	6.480000	0.73604	2.662000	0.90505	0.591000	0.81541	GAC		0.458	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		17	377	0	0	0	1	0	17	377					T	4899881	C	T	4899881	3	4	95	1	0	0	0	0	1	0	0	0	11472	884	31	1	356	1	PAPOLB	7	4899881	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	3357177	4899881	154238782	53	34200											
RELN	5649	broad.mit.edu	37	chr7	103629732	103629732	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaatagccagccgccgcGcgcgccctcagcgtcgcccc	13	19	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:103629732G>A	ENST00000428762.1	-	1	231	c.72C>T	c.(70-72)cgC>cgT	p.R24R	RELN_ENST00000424685.2_Silent_p.R24R|RELN_ENST00000343529.5_Silent_p.R24R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	24					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)		CAGCCGCCGCGCGCGCCCTCA	0.711																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(70-72)cgC>cgT		reelin							18	21	20					7																	103629732		2202	4298	6500	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103629732G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.72C>T	7.37:g.103629732G>A						RELN_ENST00000343529.5_Silent_p.R24R|RELN_ENST00000424685.2_Silent_p.R24R	p.R24R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	1	231	-			24					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.72C>T	CCDS47680.1																																																																																				0.711	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		5	151	0	0	0	1	0	5	151					A	103629732	G	A	103629732	2	1	95	1	0	0	0	0	0	0	0	1	13270	1074	38	1		1	RELN	7	103629732	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	98729851	103629732	55508931	54	34201											
JHDM1D	80853	broad.mit.edu	37	chr7	139818933	139818933	+	Frame_Shift_Del	DEL	T	T	-													ctttcagggtttccagcaagTttttggctacaaaccaacat							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:139818933delT	ENST00000397560.2	-	9	1323	c.1226delA	c.(1225-1227)aacfs	p.N409fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.N409fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		409					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)					TTCCAGCAAGTTTTTGGCTAC	0.343																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1225-1227)acfs									136	137	137					7																	139818933		1805	4074	5879	SO:0001589	frameshift_variant	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139818933delT																												ENST00000397560.2:c.1226delA	7.37:g.139818933delT	ENSP00000380692:p.Asn409fs					JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.N409fs	p.N409fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			9	1323	-	Melanoma(164;0.0142)		409					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Del	DEL	ENST00000397560.2	37	c.1226delA	CCDS43658.1																																																																																				0.343	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			7	780						7	780	---	---	---	---	-	139818933	T	-	139818933	7	5	95	1	0	1	0	1	0	0	0	0	7978	1725	60	0	1647	0	JHDM1D	7	139818933	Frame_Shift_Del	DEL	T	TCGA-IB-AAUP-01A-11D-A377-08	36189201	139818933	19319730	55	34202											
PRSS2	154754	broad.mit.edu	37	chr7	142481251	142481251	+	RNA	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttattctgaacaatgacatcAtgctgatcaagctctccaca	5	11	4	3	rs200856228		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAATGACATCATGCTGATCAA	0.522																																						ENST00000603901.1																			0																				201	140	159					7																	142481251		684	1494	2178			0							g.chr7:142481251A>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481251A>C								NR_001296.3						0	325	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		10	129	0	0	0	1	0	10	129					C	142481251	A	C	142481251	1	2	95	0	1	0	0	0	0	0	0	0	12664	217	8	4		4	PRSS2	7	142481251	RNA	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	2662318	142481251	16657412	56	34203											
PRSS2	154754	broad.mit.edu	37	chr7	142481316	142481316	+	RNA	SNP	T	T	C													tccaccatctctctgcccacTgcccctccagctgctggcac					rs201020184		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:142481316T>C	ENST00000603901.1	+	0	390					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CTCTGCCCACTGCCCCTCCAG	0.547																																						ENST00000603901.1																			0																				146	106	119					7																	142481316		689	1515	2204			0							g.chr7:142481316T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481316T>C								NR_001296.3						0	390	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.547	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	78	0	0	0	1	0	6	78					C	142481316	T	C	142481316	1	2	95	0	1	0	0	0	0	0	0	0	12664	1567	55	4		4	PRSS2	7	142481316	RNA	SNP	T	TCGA-IB-AAUP-01A-11D-A377-08	65	142481316	16657347	57	34204	219	2									
PRSS2	154754	broad.mit.edu	37	chr7	142481317	142481317	+	RNA	SNP	G	G	A													ccaccatctctctgcccactGcccctccagctgctggcacc					rs201986742		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:142481317G>A	ENST00000603901.1	+	0	391					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCTGCCCACTGCCCCTCCAGC	0.547																																						ENST00000603901.1																			0																				144	105	117					7																	142481317		689	1515	2204			0							g.chr7:142481317G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"trypsinogen C"						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481317G>A								NR_001296.3						0	391	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.547	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	79	0	0	0	1	0	6	79					A	142481317	G	A	142481317	1	1	95	0	1	0	0	0	0	0	0	0	12664	1319	46	2		2	PRSS2	7	142481317	RNA	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1	142481317	16657346	58	34205	219	2									
NOBOX	135935	broad.mit.edu	37	chr7	144097345	144097345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtctgggcaatctctcggCgtttatcactgtcaggatag	11	11	4	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr7:144097345C>T	ENST00000467773.1	-	5	904	c.905G>A	c.(904-906)cGc>cAc	p.R302H	NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	302					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)					AATCTCTCGGCGTTTATCACT	0.557																																						ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(904-906)cGc>cAc		NOBOX oogenesis homeobox							87	80	83					7																	144097345		1892	4124	6016	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144097345C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.905G>A	7.37:g.144097345C>T	ENSP00000419457:p.Arg302His					NOBOX_ENST00000223140.5_Missense_Mutation_p.R217H|NOBOX_ENST00000483238.1_Missense_Mutation_p.R302H	p.R302H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			5	904	-	Melanoma(164;0.14)		302					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.905G>A		.	.	.	.	.	.	.	.	.	.	C	19.76	3.888183	0.72524	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97505	-4.41;-4.41;-4.41	5.79	4.91	0.64330	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.139728	0.38778	N	0.001576	D	0.99010	0.9662	H	0.98111	4.15	0.36943	D	0.892459	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1488	10	0.87932	D	0	-29.743	12.7537	0.57321	0.0:0.9207:0.0:0.0793	.	302	O60393	NOBOX_HUMAN	H	302;302;217;91	ENSP00000419565:R302H;ENSP00000419457:R302H;ENSP00000223140:R217H	ENSP00000223140:R217H	R	-	2	0	NOBOX	143728278	1.000000	0.71417	0.745000	0.31077	0.663000	0.39108	5.277000	0.65586	1.450000	0.47717	0.650000	0.86243	CGC		0.557	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		10	261	0	0	0	1	0	10	261					T	144097345	C	T	144097345	3	4	95	1	0	0	0	0	1	0	0	0	10554	768	27	1	1098	1	NOBOX	7	144097345	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1616028	144097345	15041318	59	34206											
RP1L1	94137	broad.mit.edu	37	chr8	10466221	10466221	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttctcccctttcacttatgCcctctccctcctgctcagct	3	19	4	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr8:10466221C>T	ENST00000382483.3	-	4	5610	c.5387G>A	c.(5386-5388)gGc>gAc	p.G1796D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1876					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)		TTCACTTATGCCCTCTCCCTC	0.572																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5386-5388)gGc>gAc		retinitis pigmentosa 1-like 1							183	201	195					8																	10466221		2094	4209	6303	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466221C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5387G>A	8.37:g.10466221C>T	ENSP00000371923:p.Gly1796Asp						p.G1796D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5610	-			1796					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5387G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	6.140	0.394029	0.11638	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	3.53	1.59	0.23543	.	1.480750	0.05142	U	0.494445	T	0.03827	0.0108	N	0.24115	0.695	0.09310	N	1	P	0.47409	0.895	B	0.38755	0.281	T	0.41556	-0.9502	10	0.33141	T	0.24	-5.8872	6.0845	0.19960	0.0:0.5718:0.0:0.4282	.	1796	A6NKC6	.	D	1796	ENSP00000371923:G1796D	ENSP00000371923:G1796D	G	-	2	0	RP1L1	10503631	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	-1.610000	0.02064	0.675000	0.31264	0.305000	0.20034	GGC		0.572	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			6	794	0	0	0	1	0	6	794					T	10466221	C	T	10466221	3	4	95	1	0	0	0	0	1	0	0	0	13583	739	26	2	1819	2	RP1L1	8	10466221	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		10466221	135897801	60	34207											
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	8	10	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					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)	p.R43H(2)		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)			TTTGGTATCCGCAAACTCTAC	0.433																																						ENST00000396987.3																			2	Substitution - Missense(2)	p.R43H(2)	kidney(1)|endometrium(1)	endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14						c.(127-129)cGc>cAc		1-acylglycerol-3-phosphate O-acyltransferase 6							143	134	137					8																	41456786		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456786G>A	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.128G>A	8.37:g.41456786G>A	ENSP00000380184:p.Arg43His						p.R43H	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	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)		2	1055	+	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)	43					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.128G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581895	0.96578	.	.	ENSG00000158669	ENST00000396987	T	0.58797	0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78979	-0.1990	10	0.72032	D	0.01	.	19.5092	0.95133	0.0:0.0:1.0:0.0	.	43	Q86UL3	GPAT4_HUMAN	H	43	ENSP00000380184:R43H	ENSP00000380184:R43H	R	+	2	0	AGPAT6	41575943	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CGC		0.433	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		5	557	0	0	0	1	0	5	557					A	41456786	G	A	41456786	3	1	95	1	0	0	0	0	1	0	0	0	391	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	30990565	41456786	104907236	61	34208											
FER1L6	654463	broad.mit.edu	37	chr8	125058136	125058136	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggagctgtatgacagcgaCgctgtggtgagtgtccccct	15	10	0	2	rs532200482		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr8:125058136C>T	ENST00000522917.1	+	21	2924	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	FER1L6_ENST00000399018.1_Silent_p.D906D|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	906	C2 3. {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)			ATGACAGCGACGCTGTGGTGA	0.507																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2716-2718)gaC>gaT		fer-1-like 6 (C. elegans)							120	125	124					8																	125058136		1970	4162	6132	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125058136C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2718C>T	8.37:g.125058136C>T						FER1L6_ENST00000399018.1_Silent_p.D906D	p.D906D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		21	2924	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		906			C2 3.			Silent	SNP	ENST00000522917.1	37	c.2718C>T	CCDS43767.1																																																																																				0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		35	517	0	0	0	1	0	35	517					T	125058136	C	T	125058136	2	4	95	1	0	0	0	0	0	0	0	1	5840	535	19	1		1	FER1L6	8	125058136	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	83601350	125058136	21305886	62	34209											
PTPLAD2	401494	broad.mit.edu	37	chr9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T													atgctgtacttcacatcttcINSttttttttaatgggaaagat							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:21007045_21007046insT	ENST00000495827.2	-	7	734_735	c.689_690insA	c.(688-690)aagfs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371																																						ENST00000495827.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(688-690)aaafs		protein tyrosine phosphatase-like A domain containing 2																																				SO:0001589	frameshift_variant	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007045_21007046insT		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.690dupA	9.37:g.21007053_21007053dupT	ENSP00000419503:p.Lys230fs					PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	734_735	-			230			Poly-Lys.		Q7Z385	Frame_Shift_Ins	INS	ENST00000495827.2	37	c.689_690insA	CCDS43791.1																																																																																				0.371	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915		9	441						9	441	---	---	---	---	T	21007046	-	T	21007045	7	5	95	1	0	1	1	0	0	0	0	0	12824	912	32	0	12	0	PTPLAD2	9	21007045	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08		21007045	120206386	63	34210											
PIGO	84720	broad.mit.edu	37	chr9	35092197	35092197	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctcagctacaacaaaactatCagagaagaacacagccaagc	6	12	2	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092197C>G	ENST00000378617.3	-	7	2081	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.D563H	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	563					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAAAACTATCAGAGAAGAAC	0.597																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1687-1689)Gat>Cat		phosphatidylinositol glycan anchor biosynthesis, class O							53	56	55					9																	35092197		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092197C>G	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.1687G>C	9.37:g.35092197C>G	ENSP00000367880:p.Asp563His					PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D563H|PIGO_ENST00000298004.5_Intron	p.D563H	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2081	-			563					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1687G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485923	0.63962	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56444	0.46;0.46	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.73461	-0.3975	10	0.87932	D	0	-16.9008	19.6982	0.96039	0.0:1.0:0.0:0.0	.	563	Q8TEQ8	PIGO_HUMAN	H	563	ENSP00000367880:D563H;ENSP00000339382:D563H	ENSP00000339382:D563H	D	-	1	0	PIGO	35082197	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	3.975000	0.56859	2.894000	0.99253	0.655000	0.94253	GAT		0.597	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		16	301	0	0	0	1	0	16	301					G	35092197	C	G	35092197	3	3	95	1	0	0	0	0	1	0	0	0	11936	826	29	5	1602	5	PIGO	9	35092197	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	14085152	35092197	106121234	64	34211											
PIGO	84720	broad.mit.edu	37	chr9	35092359	35092359	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	agcccctagaagcactagatCtagcttcagctcaatagttc	7	12	3	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:35092359C>G	ENST00000378617.3	-	7	1919	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.D509H	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	509					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCACTAGATCTAGCTTCAGC	0.587																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(1525-1527)Gat>Cat		phosphatidylinositol glycan anchor biosynthesis, class O							54	56	55					9																	35092359		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35092359C>G	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.1525G>C	9.37:g.35092359C>G	ENSP00000367880:p.Asp509His					PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.D509H|PIGO_ENST00000298004.5_Intron	p.D509H	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1919	-			509					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.1525G>C	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994626	0.54041	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56103	0.48;0.48	5.38	5.38	0.77491	.	0.324049	0.36740	N	0.002440	T	0.59238	0.2179	L	0.59436	1.845	0.80722	D	1	D	0.53151	0.958	P	0.50791	0.65	T	0.51616	-0.8683	10	0.15066	T	0.55	-3.8987	19.3311	0.94288	0.0:1.0:0.0:0.0	.	509	Q8TEQ8	PIGO_HUMAN	H	509	ENSP00000367880:D509H;ENSP00000339382:D509H	ENSP00000339382:D509H	D	-	1	0	PIGO	35082359	1.000000	0.71417	0.706000	0.30403	0.701000	0.40568	6.553000	0.73918	2.813000	0.96785	0.655000	0.94253	GAT		0.587	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		28	379	0	0	0	1	0	28	379					G	35092359	C	G	35092359	3	3	95	1	0	0	0	0	1	0	0	0	11936	913	32	5	1764	5	PIGO	9	35092359	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	162	35092359	106121072	65	34212											
GRIN3A	116443	broad.mit.edu	37	chr9	104385694	104385694	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtccatgatgaaggcGtctagtttctctggatcatt	10	8	3	2	rs143827340	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr9:104385694G>A	ENST00000361820.3	-	5	3120	c.2520C>T	c.(2518-2520)gaC>gaT	p.D840D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	840					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)	p.D840E(1)|p.D840D(1)		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)	TGATGAAGGCGTCTAGTTTCT	0.423													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19164	0.0		0.0	False		,,,				2504	0.001					ENST00000361820.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.D840E(1)|p.D840D(1)	large_intestine(1)|lung(1)	breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(2518-2520)gaC>gaT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	G		1,4405	2.1+/-5.4	0,1,2202	143	128	133		2520	-1.5	1	9	dbSNP_134	133	0,8600		0,0,4300	no	coding-synonymous	GRIN3A	NM_133445.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		840/1116	104385694	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104385694G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2520C>T	9.37:g.104385694G>A							p.D840D	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			5	3120	-		Acute lymphoblastic leukemia(62;0.0568)	840					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.2520C>T	CCDS6758.1																																																																																				0.423	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			18	340	0	0	0	1	0	18	340					A	104385694	G	A	104385694	2	1	95	1	0	0	0	0	0	0	0	1	6813	1136	40	1		1	GRIN3A	9	104385694	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	69293335	104385694	36827737	66	34213											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431076	37431076	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaggaagacctaggaagatCgcatgggagaaaaaagaaac	12	5	0	4	rs267602478		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:37431076C>T	ENST00000602533.1	+	7	1182	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	ANKRD30A_ENST00000361713.1_Silent_p.I361I|ANKRD30A_ENST00000374660.1_Silent_p.I361I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	417					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						CTAGGAAGATCGCATGGGAGA	0.393																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1081-1083)atC>atT		ankyrin repeat domain 30A							98	98	98					10																	37431076		1844	4093	5937	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431076C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1083C>T	10.37:g.37431076C>T						ANKRD30A_ENST00000602533.1_Silent_p.I361I|ANKRD30A_ENST00000361713.1_Silent_p.I361I	p.I361I			Q9BXX3	AN30A_HUMAN			7	1182	+			417					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1083C>T																																																																																					0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		17	434	0	0	0	1	0	17	434					T	37431076	C	T	37431076	2	4	95	1	0	0	0	0	0	0	0	1	658	874	31	1		1	ANKRD30A	10	37431076	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		37431076	98103671	67	34214											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		9	589						9	589	---	---	---	---	-	81070789	CTC	-	81070787	7	5	95	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-IB-AAUP-01A-11D-A377-08	43639711	81070787	54463960	68	34215											
FAM35A	54537	broad.mit.edu	37	chr10	88930319	88930319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacctcagagatcttcctcCgaggcagcctcagagggtga	11	13	3	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:88930319C>T	ENST00000298784.1	+	5	1832	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	FAM35A_ENST00000298786.4_Missense_Mutation_p.P573L	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	573										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GATCTTCCTCCGAGGCAGCCT	0.418																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(1717-1719)cCg>cTg		family with sequence similarity 35, member A							82	79	80					10																	88930319		2203	4298	6501	SO:0001583	missense	54537							g.chr10:88930319C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.1718C>T	10.37:g.88930319C>T	ENSP00000298784:p.Pro573Leu					FAM35A_ENST00000298784.1_Missense_Mutation_p.P573L	p.P573L			Q86V20	FA35A_HUMAN			5	1832	+			573					O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	c.1718C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	c	0.300	-0.974237	0.02215	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.62105	0.05;0.05;0.05	4.26	-3.33	0.04958	.	1.405890	0.04709	N	0.417233	T	0.38480	0.1042	N	0.14661	0.345	0.25539	N	0.987192	B	0.09022	0.002	B	0.08055	0.003	T	0.13098	-1.0522	10	0.35671	T	0.21	-0.6937	2.3797	0.04351	0.5404:0.1118:0.2298:0.1179	.	573	Q86V20	FA35A_HUMAN	L	573	ENSP00000298786:P573L;ENSP00000298784:P573L;ENSP00000351064:P573L	ENSP00000298784:P573L	P	+	2	0	FAM35A	88920299	0.000000	0.05858	0.326000	0.25389	0.352000	0.29268	-1.271000	0.02828	-0.356000	0.08187	-1.268000	0.01426	CCG		0.418	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		12	556	0	0	0	1	0	12	556					T	88930319	C	T	88930319	3	4	95	1	0	0	0	0	1	0	0	0	5578	652	23	1	1728	1	FAM35A	10	88930319	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	7859532	88930319	46604428	69	34216											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000224807.5_5'Flank|SFXN3_ENST00000393459.1_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		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)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	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						c.(166-168)gcfs		PDZ domain containing 7							49	58	55					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	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.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		7	481						7	481	---	---	---	---	-	102789811	G	-	102789811	7	5	95	1	0	1	0	1	0	0	0	0	11746	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-IB-AAUP-01A-11D-A377-08	13859492	102789811	32744936	70	34217											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362849	105362851	+	In_Frame_Del	DEL	GAG	GAG	-													cactggttttggacaaggaaGaggaggaggaggaagaggag					rs574622744		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:105362849_105362851delGAG	ENST00000369774.4	-	15	2400_2402	c.2124_2126delCTC	c.(2122-2127)tcctct>tct	p.708_709SS>S	SH3PXD2A_ENST00000538130.1_In_Frame_Del_p.543_544SS>S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_In_Frame_Del_p.575_576SS>S|SH3PXD2A_ENST00000355946.2_In_Frame_Del_p.680_681SS>S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	708	Ser-rich.				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)		GGACAaggaagaggaggaggagg	0.576																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2122-2127)tct>tc		SH3 and PX domains 2A																																				SO:0001651	inframe_deletion	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362849_105362851delGAG	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.2124_2126delCTC	10.37:g.105362858_105362860delGAG	ENSP00000358789:p.Ser710del					SH3PXD2A_ENST00000540321.1_In_Frame_Del_p.SS575del|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_In_Frame_Del_p.SS543del|SH3PXD2A_ENST00000355946.2_In_Frame_Del_p.SS680del	p.SS708del			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2400_2402	-		Colorectal(252;0.0815)|Breast(234;0.131)	708			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	In_Frame_Del	DEL	ENST00000369774.4	37	c.2124_2126delCTC																																																																																					0.576	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		7	480						7	480	---	---	---	---	-	105362851	GAG	-	105362849	7	5	95	1	0	1	0	1	0	0	0	0	14306	942	33	0	1279	0	SH3PXD2A	10	105362849	In_Frame_Del	DEL	GAG	TCGA-IB-AAUP-01A-11D-A377-08	2573038	105362849	30171898	71	34218											
GRK5	2869	broad.mit.edu	37	chr10	121203161	121203161	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcgccgttccgcggccGcaaggagaaggtgaagcggg	17	12	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:121203161G>A	ENST00000392870.2	+	12	1492	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRK5_ENST00000369108.3_Missense_Mutation_p.R283H	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	388	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TTCCGCGGCCGCAAGGAGAAG	0.632																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(1162-1164)cGc>cAc		G protein-coupled receptor kinase 5							42	45	44					10																	121203161		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121203161G>A	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.1163G>A	10.37:g.121203161G>A	ENSP00000376609:p.Arg388His					GRK5_ENST00000369108.3_Missense_Mutation_p.R283H	p.R388H	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	12	1492	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	388			Protein kinase.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.1163G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.009541	0.75046	.	.	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.65364	-0.15;-0.15	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.65893	0.2735	N	0.16903	0.455	0.80722	D	1	B;D	0.76494	0.082;0.999	B;D	0.76071	0.019;0.987	T	0.63571	-0.6607	10	0.22109	T	0.4	-1.8258	18.5308	0.90992	0.0:0.0:1.0:0.0	.	388;388	B2R7K0;P34947	.;GRK5_HUMAN	H	388;283	ENSP00000376609:R388H;ENSP00000358104:R283H	ENSP00000358104:R283H	R	+	2	0	GRK5	121193151	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.830000	0.99415	2.390000	0.81377	0.561000	0.74099	CGC		0.632	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		5	231	0	0	0	1	0	5	231					A	121203161	G	A	121203161	3	1	95	1	0	0	0	0	1	0	0	0	6822	1087	38	1	1209	1	GRK5	10	121203161	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	15840312	121203161	14331586	72	34219											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122334762	122334762	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcctgcccttgtactgcGccatgatgattgccctgtcc	8	16	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr10:122334762G>A	ENST00000398250.1	+	6	917	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.A179T|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	189					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTGTACTGCGCCATGATGAT	0.607																																						ENST00000398250.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20						c.(565-567)Gcc>Acc		phosphatidic acid phosphatase type 2 domain containing 1A							82	83	83					10																	122334762		2137	4242	6379	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334762G>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"phosphatidic acid phosphatase type 2 domain containing 1"	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.565G>A	10.37:g.122334762G>A	ENSP00000381302:p.Ala189Thr					PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.A189T|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.A126T|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.A179T|PPAPDC1A_ENST00000496437.1_3'UTR	p.A189T	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	917	+		Lung NSC(174;0.1)|all_lung(145;0.132)	189					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.565G>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703959	0.96812	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;D;D;D;D	0.82619	-1.34;-1.63;-1.63;-1.63;-1.63	5.76	5.76	0.90799	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93638	0.7968	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.994	D	0.94162	0.7415	10	0.62326	D	0.03	-16.6314	19.9694	0.97278	0.0:0.0:1.0:0.0	.	189;126;189	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	T	126;189;189;189;179	ENSP00000403508:A126T;ENSP00000381302:A189T;ENSP00000407979:A189T;ENSP00000440493:A189T;ENSP00000358069:A179T	ENSP00000358069:A179T	A	+	1	0	PPAPDC1A	122324752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.719000	0.93026	0.655000	0.94253	GCC		0.607	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		15	320	0	0	0	1	0	15	320					A	122334762	G	A	122334762	3	1	95	1	0	0	0	0	1	0	0	0	12335	1087	38	1	587	1	PPAPDC1A	10	122334762	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1131601	122334762	13199985	73	34220											
C11orf41	25758	broad.mit.edu	37	chr11	33564583	33564583	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctttctggggcggttcccGcatcaccatcaactgggaca	10	14	3	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:33564583G>A	ENST00000321505.4	+	1	763	c.583G>A	c.(583-585)Gca>Aca	p.A195T	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A195T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A195T			Q6ZVL6	K154L_HUMAN	KIAA1549-like	195						integral component of membrane (GO:0016021)											GGCGGTTCCCGCATCACCATC	0.562											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(583-585)Gca>Aca		KIAA1549-like							138	137	137					11																	33564583		2019	4163	6182	SO:0001583	missense	25758							g.chr11:33564583G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.583G>A	11.37:g.33564583G>A	ENSP00000315295:p.Ala195Thr		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A195T|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A195T	p.A195T							1	763	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.583G>A	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788206	0.16258	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.27	-2.92	0.05615	.	1.766360	0.03278	N	0.185747	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.001;0.001	T	0.09465	-1.0673	9	0.11794	T	0.64	4.1324	2.5727	0.04798	0.2295:0.0925:0.4423:0.2357	.	195;195	E9PAT2;Q6ZVL6-2	.;.	T	195;195;195;35	.	ENSP00000265654:A195T	A	+	1	0	C11orf41	33521159	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.072000	0.11486	-0.642000	0.05480	-1.134000	0.01955	GCA		0.562	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		5	676	0	0	0	1	0	5	676					A	33564583	G	A	33564583	3	1	95	1	0	0	0	0	1	0	0	0	1645	1087	38	1	585	1	C11orf41	11	33564583	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		33564583	101441933	74	34221											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						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						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201	193	196					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		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.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		7	1220						7	1220	---	---	---	---	-	35513670	C	-	35513670	7	5	95	1	0	1	0	1	0	0	0	0	11455	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-IB-AAUP-01A-11D-A377-08	1949087	35513670	99492846	75	34222											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					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						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	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.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		8	922						8	922	---	---	---	---	A	63149669	-	A	63149668	7	5	95	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08	27635998	63149668	71856848	76	34223											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggggggctgtggttcttGtggctgctcccagtgcagct	16	9	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	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						TGTGGTTCTTGTGgctgctcc	0.647																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(268-270)tGt>tAt		keratin associated protein 5-7							74	97	89					11																	71238615		2199	4294	6493	SO:0001583	missense	440050					keratin filament		g.chr11:71238615G>A	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.269G>A	11.37:g.71238615G>A	ENSP00000417330:p.Cys90Tyr						p.C90Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	303	+			90			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.269G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	5.324	0.245132	0.10077	.	.	ENSG00000244411	ENST00000398536	T	0.01438	4.89	1.56	-0.879	0.10613	.	.	.	.	.	T	0.02342	0.0072	M	0.83223	2.63	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40553	-0.9557	9	0.54805	T	0.06	.	2.6036	0.04872	0.3779:0.2657:0.3565:0.0	.	90	Q6L8G8	KRA57_HUMAN	Y	90	ENSP00000417330:C90Y	ENSP00000417330:C90Y	C	+	2	0	KRTAP5-7	70916263	1.000000	0.71417	0.000000	0.03702	0.026000	0.11368	3.535000	0.53575	-0.206000	0.10203	0.162000	0.16502	TGT		0.647	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			9	812	0	0	0	1	0	9	812					A	71238615	G	A	71238615	3	1	95	1	0	0	0	0	1	0	0	0	8597	1377	48	2	271	2	KRTAP5-7	11	71238615	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	8088947	71238615	63767901	77	34224											
DSCAML1	57453	broad.mit.edu	37	chr11	117651364	117651364	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgtgccggatgtgcggcaCgtcgtagatgtcgtcccctg	15	12	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr11:117651364C>T	ENST00000321322.6	-	2	389	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	70	Ig-like C2-type 2.				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)		ATGTGCGGCACGTCGTAGATG	0.652																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(388-390)Gtg>Atg		Down syndrome cell adhesion molecule like 1							114	116	115					11																	117651364		2200	4296	6496	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651364C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.388G>A	11.37:g.117651364C>T	ENSP00000315465:p.Val130Met					DSCAML1_ENST00000527706.1_Intron	p.V130M	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	389	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	70			Ig-like C2-type 2.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.388G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613460	0.87359	.	.	ENSG00000177103	ENST00000321322	T	0.62105	0.05	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78761	0.4334	M	0.65677	2.01	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.80674	-0.1277	9	0.72032	D	0.01	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	70	Q8TD84	DSCL1_HUMAN	M	130	ENSP00000315465:V130M	ENSP00000315465:V130M	V	-	1	0	DSCAML1	117156574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.880000	0.69698	2.536000	0.85505	0.563000	0.77884	GTG		0.652	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		15	548	0	0	0	1	0	15	548					T	117651364	C	T	117651364	3	4	95	1	0	0	0	0	1	0	0	0	4785	536	19	1	6081	1	DSCAML1	11	117651364	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	46412749	117651364	17355152	78	34225											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		13	324	0	0	0	1	0	13	324					T	25398284	C	T	25398284	3	4	95	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		25398284	108453611	79	34226											
CNTN1	1272	broad.mit.edu	37	chr12	41419082	41419082	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatagaagtcggggcctgcaAtagtgcagggtgtggacctc	15	8	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:41419082A>G	ENST00000551295.2	+	21	2771	c.2654A>G	c.(2653-2655)aAt>aGt	p.N885S	CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S|CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	885	Fibronectin type-III 3. {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)				GGGGCCTGCAATAGTGCAGGG	0.483																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2653-2655)aAt>aGt		contactin 1							174	190	184					12																	41419082		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41419082A>G	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.2654A>G	12.37:g.41419082A>G	ENSP00000447006:p.Asn885Ser					CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.N885S|CNTN1_ENST00000348761.2_Missense_Mutation_p.N874S	p.N885S	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			21	2771	+	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)	885			Fibronectin type-III 3.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.2654A>G	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499418	0.85069	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.61392	0.11;0.11;0.11	4.88	4.88	0.63580	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.81844	-0.0746	10	0.87932	D	0	.	15.2111	0.73225	1.0:0.0:0.0:0.0	.	874;885	Q12860-2;Q12860	.;CNTN1_HUMAN	S	885;885;874	ENSP00000447006:N885S;ENSP00000325660:N885S;ENSP00000261160:N874S	ENSP00000325660:N885S	N	+	2	0	CNTN1	39705349	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.581000	0.90788	2.127000	0.65507	0.533000	0.62120	AAT		0.483	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		67	950	0	0	0	1	0	67	950					G	41419082	A	G	41419082	3	3	95	1	0	0	0	0	1	0	0	0	3649	101	4	4	2732	4	CNTN1	12	41419082	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	16020798	41419082	92432813	80	34227											
COL2A1	1280	broad.mit.edu	37	chr12	48388219	48388219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttacctgaggaccaggCggacccctttcaccagcttt	10	14	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:48388219C>T	ENST00000380518.3	-	12	968	c.804G>A	c.(802-804)ccG>ccA	p.P268P	COL2A1_ENST00000337299.6_Silent_p.P199P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	268	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)	p.P199P(1)		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)	GAGGACCAGGCGGACCCCTTT	0.557																																						ENST00000380518.3																			1	Substitution - coding silent(1)	p.P199P(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(802-804)ccG>ccA		collagen, type II, alpha 1	Collagenase(DB00048)						128	105	113					12																	48388219		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48388219C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.804G>A	12.37:g.48388219C>T						COL2A1_ENST00000337299.6_Silent_p.P199P	p.P268P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			12	968	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	268			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.804G>A	CCDS41778.1																																																																																				0.557	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		5	272	0	0	0	1	0	5	272					T	48388219	C	T	48388219	2	4	95	1	0	0	0	0	0	0	0	1	3696	755	27	1		1	COL2A1	12	48388219	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	6969137	48388219	85463676	81	34228											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	903	0	0	0	1	0	6	903					A	123780522	G	A	123780522	3	1	95	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	75392303	123780522	10071373	82	34229											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678736	37678736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccttagtccttgccacgGcaggctggttctattaaaat	9	11	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:37678736G>A	ENST00000379800.3	-	1	1067	c.658C>T	c.(658-660)Ccg>Tcg	p.P220S		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs56252856). {ECO:0000269|PubMed:17344846}.		cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCTTGCCACGGCAGGCTGGTT	0.418																																						ENST00000379800.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37						c.(658-660)Ccg>Tcg		casein kinase 1, alpha 1-like							103	102	103					13																	37678736		2203	4300	6503	SO:0001583	missense	122011				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr13:37678736G>A	BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.658C>T	13.37:g.37678736G>A	ENSP00000369126:p.Pro220Ser						p.P220S	NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)	1	1067	-		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)	220		P -> L (in dbSNP:rs56252856).	Protein kinase.		Q5T2N2	Missense_Mutation	SNP	ENST00000379800.3	37	c.658C>T	CCDS9363.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854424	0.32791	.	.	ENSG00000180138	ENST00000379800	T	0.34859	1.34	1.08	1.08	0.20341	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	0.55401	0.1918	H	0.99042	4.41	0.39701	D	0.971184	P	0.36222	0.544	B	0.38985	0.287	T	0.66089	-0.6010	10	0.87932	D	0	.	7.9927	0.30250	0.0:0.0:1.0:0.0	.	220	Q8N752	KC1AL_HUMAN	S	220	ENSP00000369126:P220S	ENSP00000369126:P220S	P	-	1	0	CSNK1A1L	36576736	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	2.916000	0.48813	0.871000	0.35750	0.561000	0.74099	CCG		0.418	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203		5	469	0	0	0	1	0	5	469					A	37678736	G	A	37678736	3	1	95	1	0	0	0	0	1	0	0	0	3962	1203	42	2	359	2	CSNK1A1L	13	37678736	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		37678736	77491142	83	34230											
FREM2	341640	broad.mit.edu	37	chr13	39262608	39262608	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggtgagcaccgatgatcGcagcctgcccctttcctcct	9	16	0	2	rs544070855		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:39262608G>A	ENST00000280481.7	+	1	1343	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	376					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)		ACCGATGATCGCAGCCTGCCC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17293	0.0		0.0	False		,,,				2504	0.0					ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1126-1128)cGc>cAc		FRAS1 related extracellular matrix protein 2							98	97	97					13																	39262608		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262608G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1127G>A	13.37:g.39262608G>A	ENSP00000280481:p.Arg376His						p.R376H	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1343	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	376					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1127G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394821	0.62066	.	.	ENSG00000150893	ENST00000280481	T	0.17370	2.28	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.21583	0.68	0.58432	D	0.999997	D	0.89917	1.0	P	0.60789	0.879	T	0.01004	-1.1484	10	0.28530	T	0.3	.	16.5915	0.84766	0.0:0.13:0.87:0.0	.	376	Q5SZK8	FREM2_HUMAN	H	376	ENSP00000280481:R376H	ENSP00000280481:R376H	R	+	2	0	FREM2	38160608	0.149000	0.22717	0.998000	0.56505	0.996000	0.88848	1.935000	0.40173	2.826000	0.97356	0.561000	0.74099	CGC		0.572	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		19	376	0	0	0	1	0	19	376					A	39262608	G	A	39262608	3	1	95	1	0	0	0	0	1	0	0	0	6072	1087	38	1	1129	1	FREM2	13	39262608	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1583872	39262608	75907270	84	34231											
AKAP11	11215	broad.mit.edu	37	chr13	42876975	42876975	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtaatagtgagttgataatgGatcagtatgccaataggctt	11	4	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:42876975G>C	ENST00000025301.2	+	8	4268	c.4093G>C	c.(4093-4095)Gat>Cat	p.D1365H		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1365					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)		GTTGATAATGGATCAGTATGC	0.413																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(4093-4095)Gat>Cat		A kinase (PRKA) anchor protein 11							102	94	96					13																	42876975		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42876975G>C	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.4093G>C	13.37:g.42876975G>C	ENSP00000025301:p.Asp1365His						p.D1365H	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4268	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1365					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4093G>C	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424553	0.62733	.	.	ENSG00000023516	ENST00000025301	T	0.59906	0.23	6.16	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.68952	2.095	0.53688	D	0.999979	P	0.36990	0.577	B	0.37508	0.252	T	0.65590	-0.6131	10	0.87932	D	0	.	17.5986	0.88020	0.0:0.1234:0.8766:0.0	.	1365	Q9UKA4	AKA11_HUMAN	H	1365	ENSP00000025301:D1365H	ENSP00000025301:D1365H	D	+	1	0	AKAP11	41774975	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.096000	0.94182	1.605000	0.50152	-0.181000	0.13052	GAT		0.413	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		10	302	0	0	0	1	0	10	302					C	42876975	G	C	42876975	3	2	95	1	0	0	0	0	1	0	0	0	447	1174	41	5	4115	5	AKAP11	13	42876975	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	3614367	42876975	72292903	85	34232											
SLITRK5	26050	broad.mit.edu	37	chr13	88328647	88328647	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagccccctaaggggactcGccaacccaacaagcccaggg	11	16	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:88328647G>A	ENST00000325089.6	+	2	1223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	335					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)					AAGGGGACTCGCCAACCCAAC	0.582																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1003-1005)cGc>cAc		SLIT and NTRK-like family, member 5							63	69	67					13																	88328647		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328647G>A	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.1004G>A	13.37:g.88328647G>A	ENSP00000366283:p.Arg335His					SLITRK5_ENST00000400028.3_Missense_Mutation_p.R94H	p.R335H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1223	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		335					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1004G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073303	0.76415	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59906	0.23;0.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.962	T	0.67511	-0.5652	9	.	.	.	-18.5332	17.6713	0.88218	0.0:0.0:1.0:0.0	.	94;335	B4DSH5;O94991	.;SLIK5_HUMAN	H	335;94	ENSP00000366283:R335H;ENSP00000442244:R94H	.	R	+	2	0	SLITRK5	87126648	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.832000	0.99423	2.771000	0.95319	0.561000	0.74099	CGC		0.582	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			6	437	0	0	0	1	0	6	437					A	88328647	G	A	88328647	3	1	95	1	0	0	0	0	1	0	0	0	14796	1087	38	1	1006	1	SLITRK5	13	88328647	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	45451672	88328647	26841231	86	34233											
NALCN	259232	broad.mit.edu	37	chr13	101755524	101755524	+	Splice_Site	DEL	A	A	-													aaggataattctcacataccAaaaaaatttccttgaagccg							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:101755524delA	ENST00000251127.6	-	26	3137	c.3056delT	c.(3055-3057)ttg>tg	p.L1019fs		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1019					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)					CTCACATACCAAAAAAATTTC	0.428																																						ENST00000251127.6																			0				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						c.e26+1		sodium leak channel, non-selective							105	113	111					13																	101755524		2203	4300	6503	SO:0001630	splice_region_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101755524delA	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.3057+1T>-	13.37:g.101755524delA							p.L1019_splice	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			26	3137	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1019					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	DEL	ENST00000251127.6	37	c.3057_splice	CCDS9498.1																																																																																				0.428	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	Frame_Shift_Del	7	627						7	627	---	---	---	---	-	101755524	A	-	101755524	8	5	95	1	0	1	0	1	0	0	1	0	10189	144	5	0	2236	0	NALCN	13	101755524	Splice_Site	DEL	A	TCGA-IB-AAUP-01A-11D-A377-08	13426877	101755524	13414354	87	34234											
ARHGEF7	8874	broad.mit.edu	37	chr13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggccctcgtctcaccGcataaagtcttttgactccc	7	17	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					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)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				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						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184	178	180					13																	111862267		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862267G>A	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.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	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)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		7	897	0	0	0	1	0	7	897					A	111862267	G	A	111862267	3	1	95	1	0	0	0	0	1	0	0	0	911	1087	38	1	467	1	ARHGEF7	13	111862267	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	10106743	111862267	3307611	88	34235											
F7	2155	broad.mit.edu	37	chr13	113772782	113772782	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagagccggcgggtggcgcaGgtcatcatccccagcacgta	14	14	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr13:113772782G>A	ENST00000375581.3	+	9	896	c.861G>A	c.(859-861)caG>caA	p.Q287Q	F7_ENST00000541084.1_Silent_p.Q218Q|F7_ENST00000346342.3_Silent_p.Q265Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	287	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGTGGCGCAGGTCATCATCC	0.682																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(859-861)caG>caA		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						80	71	74					13																	113772782		2202	4297	6499	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772782G>A		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.861G>A	13.37:g.113772782G>A						F7_ENST00000346342.3_Silent_p.Q265Q|F7_ENST00000541084.1_Silent_p.Q218Q	p.Q287Q	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	896	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	287			Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.861G>A	CCDS9528.1																																																																																				0.682	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		25	256	0	0	0	1	0	25	256					A	113772782	G	A	113772782	2	1	95	1	0	0	0	0	0	0	0	1	5367	991	35	2		2	F7	13	113772782	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1910515	113772782	1397096	89	34236											
SLC35F4	341880	broad.mit.edu	37	chr14	58063541	58063541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttccttatgtgatataccGcaaagcccattgcctgctgc	8	12	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:58063541G>A	ENST00000339762.6	-	1	74	c.75C>T	c.(73-75)tgC>tgT	p.C25C	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	25					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGATATACCGCAAAGCCCAT	0.418																																						ENST00000339762.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(73-75)tgC>tgT		solute carrier family 35, member F4							82	82	82					14																	58063541		2013	4188	6201	SO:0001819	synonymous_variant	341880							g.chr14:58063541G>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.75C>T	14.37:g.58063541G>A						SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR	p.C25C							1	74	-								A6NDQ3	Silent	SNP	ENST00000339762.6	37	c.75C>T																																																																																					0.418	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		5	173	0	0	0	1	0	5	173					A	58063541	G	A	58063541	2	1	95	1	0	0	0	0	0	0	0	1	14641	1079	38	1		1	SLC35F4	14	58063541	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		58063541	49285999	90	34237											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	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		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		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					CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	121						7	121	---	---	---	---	-	93397926	GAG	-	93397924	7	5	95	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-IB-AAUP-01A-11D-A377-08	35334383	93397924	13951616	91	34238											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	545						7	545	---	---	---	---	-	95921890	CTC	-	95921888	7	5	95	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-IB-AAUP-01A-11D-A377-08	2523964	95921888	11427652	92	34239											
RAGE	5891	broad.mit.edu	37	chr14	102749891	102749891	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatcttcataacttcagAaaacgttccctctcctattt	3	12	4	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr14:102749891A>T	ENST00000361847.2	-	2	277	c.46T>A	c.(46-48)Tct>Act	p.S16T	MOK_ENST00000524214.1_Missense_Mutation_p.S16T|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.S16T	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	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)										ATAACTTCAGAAAACGTTCCC	0.348																																						ENST00000361847.2																			0											c.(46-48)Tct>Act		MOK protein kinase							187	173	178					14																	102749891		2203	4299	6502	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102749891A>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.46T>A	14.37:g.102749891A>T	ENSP00000355304:p.Ser16Thr					MOK_ENST00000524214.1_Missense_Mutation_p.S16T|MOK_ENST00000522874.1_Missense_Mutation_p.S16T|MOK_ENST00000193029.6_5'UTR	p.S16T	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			2	277	-			16			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.46T>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582045	0.86748	.	.	ENSG00000080823	ENST00000522874;ENST00000361847;ENST00000524214	T;T;T	0.49139	0.79;0.79;0.79	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.67202	0.2868	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.70612	-0.4824	10	0.62326	D	0.03	-10.4056	14.0486	0.64719	1.0:0.0:0.0:0.0	.	16;16	E7ERR8;Q9UQ07	.;MOK_HUMAN	T	16	ENSP00000429469:S16T;ENSP00000355304:S16T;ENSP00000428942:S16T	ENSP00000355304:S16T	S	-	1	0	RAGE	101819644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.750000	0.85110	1.967000	0.57214	0.459000	0.35465	TCT		0.348	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			16	313	0	0	0	1	0	16	313					T	102749891	A	T	102749891	3	4	95	1	0	0	0	0	1	0	0	0	13056	246	9	5	1257	5	RAGE	14	102749891	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	6828003	102749891	4599649	93	34240											
HERC2	8924	broad.mit.edu	37	chr15	28391388	28391388	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctcctgtccttacctgacCgcacggagacgatcctgttg	9	15	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:28391388C>T	ENST00000261609.7	-	71	11111	c.11003G>A	c.(11002-11004)cGg>cAg	p.R3668Q		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)		CTTACCTGACCGCACGGAGAC	0.557																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11002-11004)cGg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							141	92	109					15																	28391388		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28391388C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11003G>A	15.37:g.28391388C>T	ENSP00000261609:p.Arg3668Gln						p.R3668Q	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	71	11111	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3668						Missense_Mutation	SNP	ENST00000261609.7	37	c.11003G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958751	0.97145	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.68172	-0.5479	10	0.66056	D	0.02	.	19.4151	0.94690	0.0:1.0:0.0:0.0	.	3668	O95714	HERC2_HUMAN	Q	3668	ENSP00000261609:R3668Q	ENSP00000261609:R3668Q	R	-	2	0	HERC2	26064983	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.601000	0.87937	0.644000	0.83932	CGG		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	226	0	0	0	1	0	9	226					T	28391388	C	T	28391388	3	4	95	1	0	0	0	0	1	0	0	0	7088	652	23	1	3593	1	HERC2	15	28391388	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		28391388	74140004	94	34241											
RYR3	6263	broad.mit.edu	37	chr15	33858937	33858937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacactgcagagatgccagcGtgaggagtcccaggctgctc	13	12	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:33858937G>A	ENST00000389232.4	+	12	1275	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	RYR3_ENST00000415757.3_Missense_Mutation_p.R402H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	402					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)		AGATGCCAGCGTGAGGAGTCC	0.507																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1204-1206)cGt>cAt		ryanodine receptor 3							179	182	181					15																	33858937		2124	4240	6364	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33858937G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1205G>A	15.37:g.33858937G>A	ENSP00000373884:p.Arg402His					RYR3_ENST00000415757.3_Missense_Mutation_p.R402H	p.R402H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	12	1275	+		all_lung(180;7.18e-09)	402					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1205G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705268	0.15172	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96554	-4.05;-4.05	4.58	-3.34	0.04943	.	0.429405	0.25050	N	0.033529	D	0.84547	0.5496	N	0.02286	-0.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77117	-0.2706	10	0.34782	T	0.22	.	6.8124	0.23812	0.5544:0.0:0.3254:0.1202	.	402;402	Q15413-2;Q15413	.;RYR3_HUMAN	H	402	ENSP00000373884:R402H;ENSP00000399610:R402H	ENSP00000354735:R402H	R	+	2	0	RYR3	31646229	0.042000	0.20092	0.048000	0.18961	0.734000	0.41952	0.520000	0.22878	-0.521000	0.06426	-0.133000	0.14855	CGT		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	426	0	0	0	1	0	15	426					A	33858937	G	A	33858937	3	1	95	1	0	0	0	0	1	0	0	0	13820	1145	40	1	1251	1	RYR3	15	33858937	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	5467549	33858937	68672455	95	34242											
CHST14	113189	broad.mit.edu	37	chr15	40764439	40764440	+	Frame_Shift_Ins	INS	-	-	C													gcattaccacttgtgcagtgINSccccccgggccctgctgcag							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:40764439_40764440insC	ENST00000306243.5	+	1	1280_1281	c.1027_1028insC	c.(1027-1029)gccfs	p.A343fs	CHST14_ENST00000559991.1_Frame_Shift_Ins_p.A318fs	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	343					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CTTGTGCAGTGCCCCCCGGGCC	0.619																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(1027-1029)cccfs		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14																																				SO:0001589	frameshift_variant	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764439_40764440insC	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.1033dupC	15.37:g.40764445_40764445dupC	ENSP00000307297:p.Ala343fs					CHST14_ENST00000559991.1_Frame_Shift_Ins_p.P318fs	p.P343fs	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1280_1281	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	343					Q6PJ31|Q6UXA0|Q96P94	Frame_Shift_Ins	INS	ENST00000306243.5	37	c.1027_1028insC	CCDS10059.1																																																																																				0.619	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		7	411						7	411	---	---	---	---	C	40764440	-	C	40764439	7	5	95	1	0	1	1	0	0	0	0	0	3411	1319	46	0	1029	0	CHST14	15	40764439	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08	6905502	40764439	61766953	96	34243											
SPINT1	6692	broad.mit.edu	37	chr15	41146275	41146275	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcccctccatggaaaggCgccatccaggtgggctttac	12	14	0	0	rs376143378		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:41146275C>T	ENST00000344051.4	+	6	1213	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SPINT1_ENST00000562057.1_Missense_Mutation_p.R311C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R311C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	327					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CATGGAAAGGCGCCATCCAGG	0.587																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(979-981)Cgc>Tgc		serine peptidase inhibitor, Kunitz type 1		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108	109	109		931,931,979	2.6	0.8	15		109	0,8600		0,0,4300	no	missense,missense,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	311/514,311/514,327/530	41146275	1,13005	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146275C>T		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"serine protease inhibitor, Kunitz type 1"				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.979C>T	15.37:g.41146275C>T	ENSP00000342098:p.Arg327Cys					SPINT1_ENST00000431806.1_Missense_Mutation_p.R311C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R311C	p.R327C			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	6	1213	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	327					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.979C>T	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547696	0.27652	2.27E-4	0.0	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95756	-3.72;-3.8	4.59	2.63	0.31362	.	1.291370	0.04602	N	0.398660	D	0.89375	0.6697	N	0.08118	0	0.25231	N	0.989828	P;P	0.52842	0.956;0.536	B;B	0.39152	0.292;0.157	T	0.82216	-0.0567	10	0.51188	T	0.08	-8.3304	11.1077	0.48212	0.3352:0.6648:0.0:0.0	.	311;327	O43278-2;O43278	.;SPIT1_HUMAN	C	327;294;311	ENSP00000342098:R327C;ENSP00000409935:R311C	ENSP00000342098:R327C	R	+	1	0	SPINT1	38933567	0.998000	0.40836	0.763000	0.31416	0.853000	0.48598	1.921000	0.40035	0.512000	0.28257	0.448000	0.29417	CGC		0.587	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		5	526	0	0	0	1	0	5	526					T	41146275	C	T	41146275	3	4	95	1	0	0	0	0	1	0	0	0	15120	768	27	1	997	1	SPINT1	15	41146275	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	381836	41146275	61385117	97	34244											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									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						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				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						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	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.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		8	424						8	424	---	---	---	---	-	59144134	GCT	-	59144132	7	5	95	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-IB-AAUP-01A-11D-A377-08	17997857	59144132	43387260	98	34245											
FAM173A	65990	broad.mit.edu	37	chr16	772530	772530	+	Frame_Shift_Del	DEL	G	G	-													cctagttctgcccccatcccGgggggccttatttctcaggc							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:772530delG	ENST00000569529.1	+	5	981	c.681delG	c.(679-681)ccgfs	p.P227fs	FAM173A_ENST00000564000.1_3'UTR|FAM173A_ENST00000219535.3_Frame_Shift_Del_p.P210fs	NM_023933.2	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	227						integral component of membrane (GO:0016021)				pancreas(1)	1						CCCCCATCCCGGGGGGCCTTA	0.592																																						ENST00000569529.1																			0				pancreas(1)	1						c.(679-681)ccfs		family with sequence similarity 173, member A																																				SO:0001589	frameshift_variant	65990					integral to membrane		g.chr16:772530delG	BC002624	CCDS10423.1, CCDS59254.1	16p13.3	2008-06-19	2008-06-19	2008-06-19	ENSG00000103254	ENSG00000103254			14152	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 24"	C16orf24			Standard	NM_023933		Approved	MGC2494	uc002cje.4	Q9BQD7	OTTHUMG00000121177	ENST00000569529.1:c.681delG	16.37:g.772530delG	ENSP00000454380:p.Pro227fs					FAM173A_ENST00000564000.1_3'UTR|FAM173A_ENST00000219535.3_Frame_Shift_Del_p.P210fs	p.P227fs	NM_023933.1	NP_076422.1	Q9BQD7	F173A_HUMAN			5	981	+			227					A2IDD4	Frame_Shift_Del	DEL	ENST00000569529.1	37	c.681delG	CCDS10423.1																																																																																				0.592	FAM173A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241667.2	NM_023933		7	582						7	582	---	---	---	---	-	772530	G	-	772530	7	5	95	1	0	1	0	1	0	0	0	0	5514	1103	39	0	699	0	FAM173A	16	772530	Frame_Shift_Del	DEL	G	TCGA-IB-AAUP-01A-11D-A377-08		772530	89582223	99	34246											
GTF3C1	2975	broad.mit.edu	37	chr16	27476061	27476061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctctgtctttcagccGcacggagtgcaggagccaag	12	12	4	0	rs149738247		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:27476061G>A	ENST00000356183.4	-	34	5467	c.5452C>T	c.(5452-5454)Cgg>Tgg	p.R1818W	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1818W	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1818					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						TCTTTCAGCCGCACGGAGTGC	0.672																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5452-5454)Cgg>Tgg		general transcription factor IIIC, polypeptide 1, alpha 220kDa		G	TRP/ARG	0,4106		0,0,2053	20	23	22		5452	3	0.1	16	dbSNP_134	22	1,7997		0,1,3998	yes	missense	GTF3C1	NM_001520.3	101	0,1,6051	AA,AG,GG		0.0125,0.0,0.0083	probably-damaging	1818/2110	27476061	1,12103	2053	3999	6052	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27476061G>A	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.5452C>T	16.37:g.27476061G>A	ENSP00000348510:p.Arg1818Trp					GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1818W	p.R1818W	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			34	5467	-			1818					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5452C>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.397047	0.25205	0.0	1.25E-4	ENSG00000077235	ENST00000356183	T	0.25414	1.8	4.99	3.0	0.34707	.	0.708126	0.13037	N	0.418845	T	0.33469	0.0864	L	0.54323	1.7	0.09310	N	1	D;D	0.69078	0.996;0.997	P;P	0.53861	0.528;0.736	T	0.12192	-1.0557	10	0.59425	D	0.04	-13.8419	6.0954	0.20017	0.0874:0.0:0.5758:0.3368	.	1818;1818	Q12789;Q12789-3	TF3C1_HUMAN;.	W	1818	ENSP00000348510:R1818W	ENSP00000348510:R1818W	R	-	1	2	GTF3C1	27383562	0.089000	0.21612	0.068000	0.19968	0.010000	0.07245	0.457000	0.21875	0.510000	0.28216	-1.383000	0.01170	CGG		0.672	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	214	0	0	0	1	0	5	214					A	27476061	G	A	27476061	3	1	95	1	0	0	0	0	1	0	0	0	6902	1086	38	1	893	1	GTF3C1	16	27476061	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	26703531	27476061	62878692	100	34247											
ITFG1	81533	broad.mit.edu	37	chr16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagatggtcaagaaaatttgCgctccgacctaaaccaagca	9	10	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1525-1527)Gca>Aca		integrin alpha FG-GAP repeat containing 1							101	103	102					16																	47196504		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47196504C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1525G>A	16.37:g.47196504C>T	ENSP00000319918:p.Ala509Thr					ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000565694.1_RNA	p.A509T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			15	1753	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	509					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1525G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478197	0.96291	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.66084	0.292;0.941	T	0.62469	-0.6848	10	0.02654	T	1	-17.4271	19.4863	0.95030	0.0:1.0:0.0:0.0	.	396;509	F5GXC5;Q8TB96	.;TIP_HUMAN	T	509;169;254;396	ENSP00000319918:A509T;ENSP00000441062:A396T	ENSP00000319918:A509T	A	-	1	0	ITFG1	45754005	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.177000	0.65032	2.618000	0.88619	0.591000	0.81541	GCA		0.358	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		5	559	0	0	0	1	0	5	559					T	47196504	C	T	47196504	3	4	95	1	0	0	0	0	1	0	0	0	7899	768	27	1	329	1	ITFG1	16	47196504	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	19720443	47196504	43158249	101	34248											
CBLN1	869	broad.mit.edu	37	chr16	49315201	49315201	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagagaaagccaccttggcgCtgccagagcgcacagagatg	13	12	0	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:49315201C>A	ENST00000219197.6	-	1	541	c.176G>T	c.(175-177)aGc>aTc	p.S59I	CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	59	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				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)				CACCTTGGCGCTGCCAGAGCG	0.617																																						ENST00000219197.6																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9						c.(175-177)aGc>aTc		cerebellin 1 precursor							52	53	53					16																	49315201		2200	4300	6500	SO:0001583	missense	869				nervous system development|synaptic transmission	cell junction|extracellular region|synapse		g.chr16:49315201C>A	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.176G>T	16.37:g.49315201C>A	ENSP00000219197:p.Ser59Ile					CBLN1_ENST00000536749.1_Missense_Mutation_p.S59I	p.S59I	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN			1	541	-		all_cancers(37;0.0766)|all_lung(18;0.24)	59			C1q.		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	ENST00000219197.6	37	c.176G>T	CCDS10736.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867934	0.51588	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.82711	-1.64;-1.64	3.88	3.88	0.44766	Complement C1q protein (2);	0.044975	0.85682	D	0.000000	T	0.78585	0.4306	L	0.39147	1.195	0.53005	D	0.999969	P	0.43973	0.823	B	0.42062	0.374	T	0.81931	-0.0707	10	0.56958	D	0.05	-20.1966	15.6102	0.76710	0.0:1.0:0.0:0.0	.	59	P23435	CBLN1_HUMAN	I	59	ENSP00000219197:S59I;ENSP00000444651:S59I	ENSP00000219197:S59I	S	-	2	0	CBLN1	47872702	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.991000	0.29654	1.994000	0.58287	0.462000	0.41574	AGC		0.617	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256845.4	NM_004352		16	204	1	0	1.5739e-10	1	1.65088e-10	16	204					A	49315201	C	A	49315201	3	1	95	1	0	0	0	0	1	0	0	0	2711	797	28	3	417	3	CBLN1	16	49315201	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	2118697	49315201	41039552	102	34249											
SLC6A2	6530	broad.mit.edu	37	chr16	55690874	55690874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctacctctgctacaagaacGgcggcggtgagcgtggggtc	15	12	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:55690874G>A	ENST00000379906.2	+	1	523	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	90					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)	CTACAAGAACGGCGGCGGTGA	0.622																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(268-270)Ggc>Agc		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						69	74	72					16																	55690874		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55690874G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.268G>A	16.37:g.55690874G>A	ENSP00000369237:p.Gly90Ser					SLC6A2_ENST00000219833.8_Missense_Mutation_p.G90S|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G90S|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G90S|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G90S	p.G90S	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	1	523	+			90					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.268G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879435	0.72294	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	D;D;D	0.87491	-2.26;-2.26;-2.26	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98465	1.0598	10	0.87932	D	0	.	19.2658	0.93984	0.0:0.0:1.0:0.0	.	90;90	Q96KH8;P23975	.;SC6A2_HUMAN	S	90	ENSP00000394956:G90S;ENSP00000369237:G90S;ENSP00000219833:G90S	ENSP00000219833:G90S	G	+	1	0	SLC6A2	54248375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.728000	0.98792	2.620000	0.88729	0.563000	0.77884	GGC		0.622	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			19	481	0	0	0	1	0	19	481					A	55690874	G	A	55690874	3	1	95	1	0	0	0	0	1	0	0	0	14733	1116	39	1	270	1	SLC6A2	16	55690874	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	6375673	55690874	34663879	103	34250											
HERPUD1	9709	broad.mit.edu	37	chr16	56973916	56973916	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcacaaccagtttccagctGaaaaccagcctgccaatcag	6	14	2	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:56973916G>T	ENST00000439977.2	+	6	861	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.2_ENST00000570210.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	222					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						GTTTCCAGCTGAAAACCAGCC	0.507			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(664-666)Gaa>Taa		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							74	68	70					16																	56973916		2198	4300	6498	SO:0001587	stop_gained	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56973916G>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.664G>T	16.37:g.56973916G>T	ENSP00000409555:p.Glu222*					HERPUD1_ENST00000379792.2_Nonsense_Mutation_p.E197*|HERPUD1_ENST00000300302.5_Nonsense_Mutation_p.E221*|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000344114.4_Intron	p.E222*	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			6	861	+			222					E9PGD1|O60644|Q6IAN8|Q96D92	Nonsense_Mutation	SNP	ENST00000439977.2	37	c.664G>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763994	0.69878	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	.	.	.	5.65	5.65	0.86999	.	0.211534	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.2101	8.4918	0.33104	0.0816:0.1675:0.7509:0.0	.	.	.	.	X	221;197;222	.	ENSP00000300302:E222X	E	+	1	0	HERPUD1	55531417	0.998000	0.40836	0.992000	0.48379	0.992000	0.81027	2.676000	0.46883	2.668000	0.90789	0.655000	0.94253	GAA		0.507	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			6	220	1	0	2.0095e-06	1	2.07397e-06	6	220					T	56973916	G	T	56973916	4	4	95	1	0	0	0	0	0	1	0	0	7093	1291	45	3	686	3	HERPUD1	16	56973916	Nonsense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	1283042	56973916	33380837	104	34251											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	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.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	304						7	304	---	---	---	---	-	67913769	CAG	-	67913767	7	5	95	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-IB-AAUP-01A-11D-A377-08	10939851	67913767	22440986	105	34252											
TP53	7157	broad.mit.edu	37	chr17	7579315	7579316	+	Frame_Shift_Ins	INS	-	-	C													cctcagggcaactgaccgtgINScaagtcacagacttggctgt							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:7579315_7579316insC	ENST00000269305.4	-	4	560_561	c.371_372insG	c.(370-372)tgcfs	p.C124fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.C124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C124fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	124	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 -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> 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.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGACCGTGCAAGTCACAGA	0.545		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		25	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Nonsense(3)|Insertion - Frameshift(2)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.C124S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124Y(1)|p.C124fs*25(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(370-372)tacfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579315_7579316insC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.372dupG	17.37:g.7579316_7579316dupC	ENSP00000269305:p.Cys124fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y124fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y124fs	p.Y124fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	503_504	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	124		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.371_372insG	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	361						19	361	---	---	---	---	C	7579316	-	C	7579315	7	5	95	1	0	1	1	0	0	0	0	0	16434	1311	46	0	930	0	TP53	17	7579315	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08		7579315	73615895	106	34253											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-													gctgcacttccgcggcatggTgctgctgctgctgctggcct							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					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)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	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.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		9	284						9	284	---	---	---	---	-	16335492	TGC	-	16335490	7	5	95	1	0	1	0	1	0	0	0	0	16649	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-IB-AAUP-01A-11D-A377-08	8756175	16335490	64859720	107	34254											
EFTUD2	9343	broad.mit.edu	37	chr17	42937897	42937897	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcaggaacacggttcAcctcgatgtggtacctgaag	12	11	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:42937897A>G	ENST00000426333.2	-	17	1919	c.1622T>C	c.(1621-1623)gTg>gCg	p.V541A	EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A|EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A	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	541					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)				AACACGGTTCACCTCGATGTG	0.433																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(1621-1623)gTg>gCg		elongation factor Tu GTP binding domain containing 2							133	110	118					17																	42937897		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42937897A>G	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.1622T>C	17.37:g.42937897A>G	ENSP00000392094:p.Val541Ala					EFTUD2_ENST00000402521.3_Missense_Mutation_p.V506A|EFTUD2_ENST00000592576.1_Missense_Mutation_p.V531A|EFTUD2_ENST00000591382.1_Missense_Mutation_p.V541A	p.V541A	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			17	1919	-		Prostate(33;0.109)	541					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.1622T>C	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	19.36	3.813251	0.70912	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.68903	-0.36;-0.36	5.34	5.34	0.76211	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.91354	3.2	0.80722	D	1	P;P	0.38535	0.635;0.635	P;P	0.44811	0.461;0.461	T	0.82112	-0.0618	10	0.51188	T	0.08	-18.7055	15.129	0.72507	1.0:0.0:0.0:0.0	.	531;541	B4DMC0;Q15029	.;U5S1_HUMAN	A	541;531;506	ENSP00000392094:V541A;ENSP00000385873:V506A	ENSP00000262414:V531A	V	-	2	0	EFTUD2	40293423	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.055000	0.93873	2.240000	0.73641	0.528000	0.53228	GTG		0.433	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		35	373	0	0	0	1	0	35	373					G	42937897	A	G	42937897	3	3	95	1	0	0	0	0	1	0	0	0	4977	159	6	4	1344	4	EFTUD2	17	42937897	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	26602407	42937897	38257313	108	34255											
CDC27	996	broad.mit.edu	37	chr17	45234401	45234401	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggacagtatcaggtgaAattacagctgaatcaatata	10	5	2	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:45234401A>C	ENST00000066544.3	-	7	813	c.720T>G	c.(718-720)atT>atG	p.I240M	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Missense_Mutation_p.I240M|CDC27_ENST00000527547.1_Missense_Mutation_p.I240M|CDC27_ENST00000446365.2_Missense_Mutation_p.I179M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	240					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						TATCAGGTGAAATTACAGCTG	0.358																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(718-720)atT>atG		cell division cycle 27							42	47	46					17																	45234401		2191	4291	6482	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234401A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.720T>G	17.37:g.45234401A>C	ENSP00000066544:p.Ile240Met					CDC27_ENST00000531206.1_Missense_Mutation_p.I240M|CDC27_ENST00000527547.1_Missense_Mutation_p.I240M|CDC27_ENST00000446365.2_Missense_Mutation_p.I179M	p.I240M	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			7	813	-			240					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.720T>G	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.615069	0.46631	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67865	-0.28;-0.24;0.04;-0.29;0.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	N	0.19112	0.55	0.51012	D	0.9999	B;B;B;B	0.28258	0.042;0.205;0.07;0.042	B;B;B;B	0.24394	0.01;0.053;0.033;0.015	T	0.49123	-0.8972	10	0.31617	T	0.26	-5.7037	13.444	0.61129	1.0:0.0:0.0:0.0	.	179;240;240;240	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	M	240;240;179;240;240	ENSP00000066544:I240M;ENSP00000434614:I240M;ENSP00000392802:I179M;ENSP00000437339:I240M;ENSP00000432105:I240M	ENSP00000066544:I240M	I	-	3	3	CDC27	42589400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.967000	0.56802	2.066000	0.61787	0.377000	0.23210	ATT		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	259	0	0	0	1	0	4	259					C	45234401	A	C	45234401	3	2	95	1	0	0	0	0	1	0	0	0	3075	10	1	4	1824	4	CDC27	17	45234401	Missense_Mutation	SNP	A	TCGA-IB-AAUP-01A-11D-A377-08	2296504	45234401	35960809	109	34256											
PITPNC1	26207	broad.mit.edu	37	chr17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccccctgctgccttcttccGtccgcagtgcgccttctagt	8	18	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:65688807G>A	ENST00000581322.1	+	9	802	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.V268I(2)		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)			GCCTTCTTCCGTCCGCAGTGC	0.557																																						ENST00000335257.6																			2	Substitution - Missense(2)	p.V268I(2)	prostate(1)|lung(1)	breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17						c.(802-804)Gtc>Atc		phosphatidylinositol transfer protein, cytoplasmic 1							121	127	125					17																	65688807		1991	4162	6153	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688807G>A	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.802G>A	17.37:g.65688807G>A	ENSP00000464006:p.Val268Ile					PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000580974.1_3'UTR	p.V268I			Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1149	+	all_cancers(12;3.03e-10)		268					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.802G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809691	0.16537	.	.	ENSG00000154217	ENST00000335257	T	0.44083	0.93	5.75	3.59	0.41128	.	0.222920	0.47455	D	0.000223	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.34782	T	0.22	-1.2887	4.3035	0.10935	0.3704:0.0:0.6296:0.0	.	268	Q9UKF7	PITC1_HUMAN	I	268	ENSP00000335618:V268I	ENSP00000335618:V268I	V	+	1	0	PITPNC1	63119269	1.000000	0.71417	0.882000	0.34594	0.097000	0.18754	4.034000	0.57289	1.451000	0.47736	-0.136000	0.14681	GTC		0.557	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		17	492	0	0	0	1	0	17	492					A	65688807	G	A	65688807	3	1	95	1	0	0	0	0	1	0	0	0	11991	1145	40	1	959	1	PITPNC1	17	65688807	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	20454406	65688807	15506403	110	34257											
RNF213	57674	broad.mit.edu	37	chr17	78351573	78351573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacagcttgtcccaacGgccatccttgctccgtggga	9	15	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr17:78351573G>A	ENST00000582970.1	+	54	13665	c.13522G>A	c.(13522-13524)Ggc>Agc	p.G4508S	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S|RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4508					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)			TTGTCCCAACGGCCATCCTTG	0.532																																						ENST00000582970.1																			0				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						c.(13522-13524)Ggc>Agc		ring finger protein 213							315	266	282					17																	78351573		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78351573G>A	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.13522G>A	17.37:g.78351573G>A	ENSP00000464087:p.Gly4508Ser					RNF213_ENST00000336301.6_Missense_Mutation_p.G2581S|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.G4557S	p.G4508S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		54	13665	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13522G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	32	5.113576	0.94339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.55413	0.52	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.75777	2.31	0.44587	D	0.997552	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.987	T	0.76154	-0.3063	10	0.72032	D	0.01	.	17.3883	0.87423	0.0:0.0:1.0:0.0	.	4557;2581	C9JCP4;Q63HN8	.;RN213_HUMAN	S	4508;4557;2581	ENSP00000338218:G2581S	ENSP00000338218:G2581S	G	+	1	0	RNF213	75966168	0.997000	0.39634	0.349000	0.25694	0.985000	0.73830	5.094000	0.64523	2.529000	0.85273	0.655000	0.94253	GGC		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		44	618	0	0	0	1	0	44	618					A	78351573	G	A	78351573	3	1	95	1	0	0	0	0	1	0	0	0	13527	1116	39	1	14051	1	RNF213	17	78351573	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	12662766	78351573	2843637	111	34258											
GALNT1	2589	broad.mit.edu	37	chr18	33243666	33243666	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tcgtcattcctaaagaggatCaagaaaagatgaaagagatg	10	5	2	5			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr18:33243666C>G	ENST00000269195.5	+	2	317	c.214C>G	c.(214-216)Caa>Gaa	p.Q72E	GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E|GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	72					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAGAGGATCAAGAAAAGAT	0.373																																						ENST00000269195.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(214-216)Caa>Gaa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)							110	105	107					18																	33243666		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33243666C>G		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4123	protein-coding gene	gene with protein product	"protein-UDP acetylgalactosaminyltransferase 1", "polypeptide GalNAc transferase 1"	602273	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.214C>G	18.37:g.33243666C>G	ENSP00000269195:p.Gln72Glu					GALNT1_ENST00000537549.1_Missense_Mutation_p.Q12E|GALNT1_ENST00000591081.1_Missense_Mutation_p.Q72E	p.Q72E	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN			2	317	+			72					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.214C>G	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589022	0.46110	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.54279	0.62;0.58	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.35854	1.095	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26395	-1.0104	10	0.19147	T	0.46	.	16.026	0.80545	0.0:1.0:0.0:0.0	.	72	Q10472	GALT1_HUMAN	E	72;72;12	ENSP00000269195:Q72E;ENSP00000440910:Q12E	ENSP00000269195:Q72E	Q	+	1	0	GALNT1	31497664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.399000	0.81585	0.655000	0.94253	CAA		0.373	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		7	240	0	0	0	1	0	7	240					G	33243666	C	G	33243666	3	3	95	1	0	0	0	0	1	0	0	0	6235	827	29	5	220	5	GALNT1	18	33243666	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		33243666	44833582	112	34259											
HDGFRP2	729359	broad.mit.edu	37	chr19	4499495	4499495	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggtggccagattcgccGttacaaagcgaacaaggacg	12	10	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:4499495G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R528H|HDGFRP2_ENST00000301284.4_Missense_Mutation_p.R528H	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							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						CAGATTCGCCGTTACAAAGCG	0.622																																						ENST00000301284.4																			0											c.(1582-1584)cGt>cAt									28	33	31					19																	4499495		1980	4137	6117	SO:0001628	intergenic_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499495G>A	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		19.37:g.4499495G>A						HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R528H	p.R528H	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			14	1647	+			528					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1583G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671914	0.67928	.	.	ENSG00000167674	ENST00000301284	T	0.57273	0.41	3.93	3.93	0.45458	Transcription factor IIS, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75525	-0.3287	10	0.87932	D	0	.	14.6987	0.69142	0.0:0.0:1.0:0.0	.	528;528	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	H	528	ENSP00000301284:R528H	ENSP00000301284:R528H	R	+	2	0	AC011498.1	4450495	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.914000	0.87478	2.039000	0.60335	0.462000	0.41574	CGT		0.622	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		6	140	0	0	0	1	0	6	140					A	4499495	G	A	4499495	1	1	95	0	1	0	0	0	0	0	0	0	7050	1145	40	1		1	HDGFRP2	19	4499495	IGR	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		4499495	54629488	113	34260											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	217						7	217	---	---	---	---	-	6531151	GCT	-	6531149	7	5	95	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-IB-AAUP-01A-11D-A377-08	2031654	6531149	52597834	114	34261											
CLEC4M	10332	broad.mit.edu	37	chr19	7832511	7832511	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacggctcacctctgtcacCcaggtagattctgggagaaa	12	11	4	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:7832511C>T	ENST00000327325.5	+	6	1164	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000597522.1_Intron	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	349	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCTCTGTCACCCAGGTAGATT	0.577																																						ENST00000327325.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1045-1047)cCc>cTc		C-type lectin domain family 4, member M							86	75	79					19																	7832511		2203	4300	6503	SO:0001583	missense	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7832511C>T	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.1046C>T	19.37:g.7832511C>T	ENSP00000316228:p.Pro349Leu					CLEC4M_ENST00000359059.5_Missense_Mutation_p.P282L|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P282L|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P337L|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P213L|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P298L|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P327L	p.P349L	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN			6	1164	+			349			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	ENST00000327325.5	37	c.1046C>T	CCDS12187.1	.	.	.	.	.	.	.	.	.	.	C	1.249	-0.619258	0.03663	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	2.23	-1.48	0.08745	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.11922	0.0290	N	0.11892	0.195	0.21527	N	0.999659	B;B;P;B;B;B	0.51057	0.032;0.33;0.941;0.074;0.006;0.029	B;B;P;B;B;B	0.51266	0.021;0.133;0.664;0.185;0.002;0.016	T	0.20806	-1.0264	9	0.40728	T	0.16	.	5.2004	0.15260	0.0:0.3984:0.0:0.6016	.	298;282;349;337;326;213	B4E2Z5;Q9H2X3-5;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-7	.;.;CLC4M_HUMAN;.;.;.	L	349;337;327;298;282	ENSP00000316228:P349L;ENSP00000377680:P337L;ENSP00000248228:P327L;ENSP00000335228:P298L;ENSP00000351954:P282L	ENSP00000248228:P327L	P	+	2	0	CLEC4M	7738511	0.005000	0.15991	0.066000	0.19879	0.030000	0.12068	-0.702000	0.05069	-0.281000	0.09141	0.556000	0.70494	CCC		0.577	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		6	264	0	0	0	1	0	6	264					T	7832511	C	T	7832511	3	4	95	1	0	0	0	0	1	0	0	0	3527	623	22	2	1089	2	CLEC4M	19	7832511	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1301362	7832511	51296472	115	34262											
MUC16	94025	broad.mit.edu	37	chr19	9056276	9056276	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaatgggtgatgaagatgtCctgcctggttggcttgaagt	14	5	0	4			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:9056276C>T	ENST00000397910.4	-	3	31373	c.31170G>A	c.(31168-31170)agG>agA	p.R10390R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10392	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						ATGAAGATGTCCTGCCTGGTT	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31168-31170)agG>agA		mucin 16, cell surface associated							188	186	186					19																	9056276		2067	4218	6285	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056276C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31170G>A	19.37:g.9056276C>T							p.R10390R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	31373	-			10392			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.31170G>A	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		26	688	0	0	0	1	0	26	688					T	9056276	C	T	9056276	2	4	95	1	0	0	0	0	0	0	0	1	10014	854	30	2		2	MUC16	19	9056276	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1223765	9056276	50072707	116	34263											
DOCK6	57572	broad.mit.edu	37	chr19	11326596	11326596	+	Frame_Shift_Del	DEL	T	T	-													tgttgatgcgttcaaaggccTttttcccctgggggtgcaga							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:11326596delT	ENST00000294618.7	-	31	3913	c.3902delA	c.(3901-3903)aagfs	p.K1301fs	DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1301					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCAAAGGCCTTTTTCCCCTG	0.542																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3901-3903)agfs		dedicator of cytokinesis 6							93	87	89					19																	11326596		1908	4113	6021	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326596delT		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3902delA	19.37:g.11326596delT	ENSP00000294618:p.Lys1301fs					CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs	p.K1301fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			31	3913	-			1301					A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.3902delA	CCDS45975.1																																																																																				0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		7	552						7	552	---	---	---	---	-	11326596	T	-	11326596	7	5	95	1	0	1	0	1	0	0	0	0	4707	1609	56	0	2313	0	DOCK6	19	11326596	Frame_Shift_Del	DEL	T	TCGA-IB-AAUP-01A-11D-A377-08	2270320	11326596	47802387	117	34264											
NWD1	284434	broad.mit.edu	37	chr19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-													agacatggtggagacggctgTttttggtactgagaacaacc							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301	275	284					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		8	1516						8	1516	---	---	---	---	-	16908642	T	-	16908642	7	5	95	1	0	1	0	1	0	0	0	0	10823	1725	60	0	3045	0	NWD1	19	16908642	Frame_Shift_Del	DEL	T	TCGA-IB-AAUP-01A-11D-A377-08	5582046	16908642	42220341	118	34265											
NCAN	1463	broad.mit.edu	37	chr19	19330065	19330065	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgactctgggctgtacCgctgccaggtggtgaggggc	17	11	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:19330065C>T	ENST00000252575.6	+	3	514	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	139	Ig-like V-type.				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)	TGGGCTGTACCGCTGCCAGGT	0.677																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(415-417)Cgc>Tgc		neurocan																																				SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19330065C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.415C>T	19.37:g.19330065C>T	ENSP00000252575:p.Arg139Cys						p.R139C	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		3	458	+			139			Ig-like V-type.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.415C>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226025	0.79576	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.65916	-0.18	4.59	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40640	N	0.001055	T	0.81772	0.4893	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85912	0.1441	10	0.87932	D	0	.	14.9149	0.70789	0.0:1.0:0.0:0.0	.	139	O14594	NCAN_HUMAN	C	153;139	ENSP00000252575:R139C	ENSP00000252575:R139C	R	+	1	0	NCAN	19191065	1.000000	0.71417	0.990000	0.47175	0.763000	0.43281	4.576000	0.60915	2.113000	0.64589	0.491000	0.48974	CGC		0.677	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		4	62	0	0	0	1	0	4	62					T	19330065	C	T	19330065	3	4	95	1	0	0	0	0	1	0	0	0	10246	652	23	1	421	1	NCAN	19	19330065	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	2421423	19330065	39798918	119	34266											
ZFP82	284406	broad.mit.edu	37	chr19	36884959	36884959	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccactgggataaatttatttCataaatgtcattttctaaag	5	6	3	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:36884959C>T	ENST00000392161.3	-	5	525	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATTTATTTCATAAATGTCA	0.303																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(283-285)Gaa>Aaa		ZFP82 zinc finger protein							56	63	61					19																	36884959		2165	4276	6441	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884959C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.283G>A	19.37:g.36884959C>T	ENSP00000431265:p.Glu95Lys					ZFP82_ENST00000392171.1_Missense_Mutation_p.E95K	p.E95K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	525	-			95					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.283G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728610	0.30593	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07908	3.25;3.15	4.4	1.97	0.26223	.	0.193575	0.25397	N	0.030976	T	0.06554	0.0168	N	0.25992	0.78	0.25084	N	0.99091	P	0.38788	0.647	B	0.40982	0.345	T	0.23833	-1.0177	10	0.51188	T	0.08	.	6.6527	0.22971	0.0:0.6709:0.0:0.329	.	95	Q8N141	ZFP82_HUMAN	K	95	ENSP00000431265:E95K;ENSP00000446080:E95K	ENSP00000431265:E95K	E	-	1	0	ZFP82	41576799	0.005000	0.15991	0.999000	0.59377	0.924000	0.55760	-0.052000	0.11865	0.477000	0.27464	0.650000	0.86243	GAA		0.303	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	535	0	0	0	1	0	6	535					T	36884959	C	T	36884959	3	4	95	1	0	0	0	0	1	0	0	0	17706	835	29	2	1319	2	ZFP82	19	36884959	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	17554894	36884959	22244024	120	34267											
RYR1	6261	broad.mit.edu	37	chr19	38989876	38989876	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcctgcgctttgctgtcttCgtcaacggtgaggagggggt	15	9	2	1	rs199993301		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:38989876C>T	ENST00000359596.3	+	43	7020	c.7020C>T	c.(7018-7020)ttC>ttT	p.F2340F	RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000355481.4_Silent_p.F2340F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2340	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)	TTGCTGTCTTCGTCAACGGTG	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19955	0.0		0.0	False		,,,				2504	0.0					ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(7018-7020)ttC>ttT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						90	69	76					19																	38989876		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38989876C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7020C>T	19.37:g.38989876C>T						RYR1_ENST00000360985.3_Silent_p.F2340F|RYR1_ENST00000359596.3_Silent_p.F2340F	p.F2340F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		43	7151	+	all_cancers(60;7.91e-06)		2340			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.7020C>T	CCDS33011.1																																																																																				0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	432	0	0	0	1	0	12	432					T	38989876	C	T	38989876	2	4	95	1	0	0	0	0	0	0	0	1	13818	883	31	1		1	RYR1	19	38989876	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	2104917	38989876	20139107	121	34268											
PAK4	10298	broad.mit.edu	37	chr19	39664276	39664278	+	In_Frame_Del	DEL	TCC	TCC	-													ggggcctggccatcccccagTcctcctcctcctcctcccgg							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:39664276_39664278delTCC	ENST00000593690.1	+	6	1151_1153	c.724_726delTCC	c.(724-726)tccdel	p.S247del	PAK4_ENST00000599386.1_In_Frame_Del_p.S94del|PAK4_ENST00000435673.2_In_Frame_Del_p.S247del|PAK4_ENST00000599470.1_In_Frame_Del_p.S94del|PAK4_ENST00000358301.3_In_Frame_Del_p.S247del|PAK4_ENST00000321944.4_In_Frame_Del_p.S157del|PAK4_ENST00000360442.3_In_Frame_Del_p.S247del	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	247	Linker.|Poly-Ser.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CATCCCCCAGTCCTCCTCCTCCT	0.7																																						ENST00000599386.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(265-267)del		p21 protein (Cdc42/Rac)-activated kinase 4																																				SO:0001651	inframe_deletion	0				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39664276_39664278delTCC	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.724_726delTCC	19.37:g.39664285_39664287delTCC	ENSP00000469413:p.Ser247del					PAK4_ENST00000360442.3_In_Frame_Del_p.S247del|PAK4_ENST00000358301.3_In_Frame_Del_p.S247del|PAK4_ENST00000599470.1_In_Frame_Del_p.S94del|PAK4_ENST00000435673.2_In_Frame_Del_p.S247del|PAK4_ENST00000321944.4_In_Frame_Del_p.S157del|PAK4_ENST00000593690.1_In_Frame_Del_p.S247del	p.S94del	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		4	446_448	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		247			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	In_Frame_Del	DEL	ENST00000593690.1	37	c.265_267delTCC	CCDS12528.1																																																																																				0.7	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1			8	174						8	174	---	---	---	---	-	39664278	TCC	-	39664276	7	5	95	1	0	1	0	1	0	0	0	0	11445	1667	58	0	734	0	PAK4	19	39664276	In_Frame_Del	DEL	TCC	TCGA-IB-AAUP-01A-11D-A377-08	674400	39664276	19464707	122	34269											
ZNF526	116115	broad.mit.edu	37	chr19	42730124	42730124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccaccagctgacccatacGggtgcacgtccctaccaatg	9	17	0	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:42730124G>A	ENST00000301215.3	+	3	1794	c.1569G>A	c.(1567-1569)acG>acA	p.T523T		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	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)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGACCCATACGGGTGCACGTC	0.617																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(1567-1569)acG>acA		zinc finger protein 526							70	65	67					19																	42730124		2203	4300	6503	SO:0001819	synonymous_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42730124G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"Zinc fingers, C2H2-type"	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.1569G>A	19.37:g.42730124G>A							p.T523T	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	1794	+		Prostate(69;0.0704)	523					B3KV29|Q69YI2|Q96E24	Silent	SNP	ENST00000301215.3	37	c.1569G>A	CCDS12598.1																																																																																				0.617	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		25	230	0	0	0	1	0	25	230					A	42730124	G	A	42730124	2	1	95	1	0	0	0	0	0	0	0	1	18020	1103	39	1		1	ZNF526	19	42730124	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	3065848	42730124	16398859	123	34270											
BCL3	602	broad.mit.edu	37	chr19	45262737	45262737	+	Frame_Shift_Del	DEL	C	C	-													tcccagtctccccccagggaCccccctggattccccatggc							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:45262737delC	ENST00000164227.5	+	9	1474	c.1230delC	c.(1228-1230)gacfs	p.D410fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	410	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)				CCCCCAGGGACCCCCCTGGAT	0.642			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1228-1230)gafs		B-cell CLL/lymphoma 3							185	200	195					19																	45262737		2203	4300	6503	SO:0001589	frameshift_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262737delC	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.1230delC	19.37:g.45262737delC	ENSP00000164227:p.Asp410fs						p.D410fs	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1474	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	410			Pro/Ser-rich.			Frame_Shift_Del	DEL	ENST00000164227.5	37	c.1230delC	CCDS12642.2																																																																																				0.642	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		7	1451						7	1451	---	---	---	---	-	45262737	C	-	45262737	7	5	95	1	0	1	0	1	0	0	0	0	1376	506	18	0	1264	0	BCL3	19	45262737	Frame_Shift_Del	DEL	C	TCGA-IB-AAUP-01A-11D-A377-08	2532613	45262737	13866246	124	34271											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	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.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		11	1061	0	0	0	1	0	11	1061					A	53644386	T	A	53644386	2	1	95	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-IB-AAUP-01A-11D-A377-08	8381649	53644386	5484597	125	34272											
ZNF749	388567	broad.mit.edu	37	chr19	57956104	57956104	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtcccacctagttcagcatGagaaaatccacactgatgca	7	12	1	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:57956104G>C	ENST00000334181.4	+	3	1838	c.1588G>C	c.(1588-1590)Gag>Cag	p.E530Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	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)			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)		AGTTCAGCATGAGAAAATCCA	0.448																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1588-1590)Gag>Cag		zinc finger protein 749							96	93	94					19																	57956104		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956104G>C	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.1588G>C	19.37:g.57956104G>C	ENSP00000333980:p.Glu530Gln					AC004076.9_ENST00000596831.1_Intron	p.E530Q	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1838	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	530						Missense_Mutation	SNP	ENST00000334181.4	37	c.1588G>C	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	0	-2.620200	0.00118	.	.	ENSG00000186230	ENST00000334181	T	0.07567	3.18	0.858	-0.38	0.12490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.01235	-0.94	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.45308	-0.9270	9	0.02654	T	1	.	5.0363	0.14436	0.0:0.6227:0.3773:0.0	.	530	O43361	ZN749_HUMAN	Q	530	ENSP00000333980:E530Q	ENSP00000333980:E530Q	E	+	1	0	ZNF749	62647916	.	.	0.006000	0.13384	0.045000	0.14185	.	.	-0.053000	0.13289	-1.525000	0.00928	GAG		0.448	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		6	543	0	0	0	1	0	6	543					C	57956104	G	C	57956104	3	2	95	1	0	0	0	0	1	0	0	0	18184	1291	45	5	1598	5	ZNF749	19	57956104	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	4311718	57956104	1172879	126	34273											
SLC27A5	10998	broad.mit.edu	37	chr19	59010223	59010223	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtacaacttctcccCgtcgaaagtctggccggggg	14	12	2	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr19:59010223C>T	ENST00000263093.2	-	9	1934	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R	SLC27A5_ENST00000594786.1_Missense_Mutation_p.G14R|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G525R|SLC27A5_ENST00000599700.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	609					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AACTTCTCCCCGTCGAAAGTC	0.627																																						ENST00000263093.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1825-1827)Ggg>Agg		solute carrier family 27 (fatty acid transporter), member 5							69	65	66					19																	59010223		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010223C>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1825G>A	19.37:g.59010223C>T	ENSP00000263093:p.Gly609Arg					SLC27A5_ENST00000594786.1_Missense_Mutation_p.G14R|SLC27A5_ENST00000601355.1_Missense_Mutation_p.G525R|SLC27A5_ENST00000599700.1_Intron	p.G609R	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	9	1934	-		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)	609					B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1825G>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317416	0.81469	.	.	ENSG00000083807	ENST00000263093	T	0.56444	0.46	4.99	4.99	0.66335	.	0.191936	0.44688	D	0.000433	T	0.72061	0.3414	M	0.79926	2.475	0.39795	D	0.972482	D	0.76494	0.999	D	0.70716	0.97	T	0.76063	-0.3096	10	0.52906	T	0.07	-29.1403	14.1388	0.65306	0.0:1.0:0.0:0.0	.	609	Q9Y2P5	S27A5_HUMAN	R	609	ENSP00000263093:G609R	ENSP00000263093:G609R	G	-	1	0	SLC27A5	63702035	0.007000	0.16637	0.565000	0.28409	0.824000	0.46624	0.650000	0.24858	2.470000	0.83445	0.650000	0.86243	GGG		0.627	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		4	278	0	0	0	1	0	4	278					T	59010223	C	T	59010223	3	4	95	1	0	0	0	0	1	0	0	0	14579	652	23	1	255	1	SLC27A5	19	59010223	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	1054119	59010223	118760	127	34274											
KIF16B	55614	broad.mit.edu	37	chr20	16360516	16360516	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgagttctttgagtcGttggagttcttcttggacgc	13	6	3	2	rs201140090		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:16360516G>A	ENST00000354981.2	-	19	2288	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	711	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTTGAGTCGTTGGAGTTCT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		21064	0.001		0.0	False		,,,				2504	0.0					ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2131-2133)Cga>Tga		kinesin family member 16B							155	140	146					20																	16360516		2203	4300	6503	SO:0001587	stop_gained	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360516G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2131C>T	20.37:g.16360516G>A	ENSP00000347076:p.Arg711*					KIF16B_ENST00000355755.3_Nonsense_Mutation_p.R711*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.R711*|KIF16B_ENST00000378003.2_De_novo_Start_OutOfFrame	p.R711*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2288	-			711			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.2131C>T	CCDS13122.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.79	3.698839	0.68501	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042	.	.	.	5.39	-2.5	0.06384	.	0.267875	0.35585	N	0.003112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9842	0.09507	0.3095:0.0:0.3307:0.3598	.	.	.	.	X	711	.	ENSP00000347076:R711X	R	-	1	2	KIF16B	16308516	0.637000	0.27216	0.033000	0.17914	0.004000	0.04260	0.491000	0.22419	-0.381000	0.07882	0.655000	0.94253	CGA		0.443	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		13	514	0	0	0	1	0	13	514					A	16360516	G	A	16360516	4	1	95	1	0	0	0	0	0	1	0	0	8308	1153	40	1	1854	1	KIF16B	20	16360516	Nonsense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		16360516	46665004	128	34275											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49	47	48					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	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.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		6	647	0	0	0	1	0	6	647					A	34241168	G	A	34241168	3	1	95	1	0	0	0	0	1	0	0	0	13163	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	17880652	34241168	28784352	129	34276											
IL10RB	3588	broad.mit.edu	37	chr21	34648943	34648943	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgaatactaccttgacGgaatgtgatttctcaagtct	8	8	2	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:34648943G>A	ENST00000290200.2	+	3	324	c.216G>A	c.(214-216)acG>acA	p.T72T	AP000295.9_ENST00000433395.2_Missense_Mutation_p.R200Q	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	72	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CTACCTTGACGGAATGTGATT	0.423																																					Melanoma(67;315 1275 21667 21943 44564)	ENST00000433395.2																			0											c.(598-600)cGg>cAg									219	197	204					21																	34648943		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:34648943G>A	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"Interleukins and interleukin receptors", "CD molecules"	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.216G>A	21.37:g.34648943G>A						IL10RB_ENST00000290200.2_Silent_p.T72T	p.R200Q							5	599	+								Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	c.599G>A	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371328	0.11409	.	.	ENSG00000249624	ENST00000433395	.	.	.	5.73	-6.28	0.02020	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	-4.5826	1.0173	0.01510	0.3828:0.0988:0.2184:0.3001	.	.	.	.	Q	200	.	.	R	+	2	0	AP000295.9	33570813	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.065000	0.01386	-1.134000	0.02899	-0.136000	0.14681	CGG		0.423	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3			15	473	0	0	0	1	0	15	473					A	34648943	G	A	34648943	2	1	95	1	0	0	0	0	0	0	0	1	7651	1103	39	1		1	IL10RB	21	34648943	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		34648943	13480952	130	34277											
DSCAM	1826	broad.mit.edu	37	chr21	41719644	41719644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcggacagcttgtccttgCgcacaaagcactggtatgcg	13	11	0	0	rs369481071		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:41719644C>T	ENST00000400454.1	-	6	1640	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	388	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTTGTCCTTGCGCACAAAGCA	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1162-1164)cGc>cAc		Down syndrome cell adhesion molecule		C	HIS/ARG	0,4010		0,0,2005	237	216	223		1163	5.1	1	21		223	1,8335		0,1,4167	no	missense	DSCAM	NM_001389.3	29	0,1,6172	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	388/2013	41719644	1,12345	2005	4168	6173	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719644C>T	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.1163G>A	21.37:g.41719644C>T	ENSP00000383303:p.Arg388His						p.R388H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			6	1640	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	388			Ig-like C2-type 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1163G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075691	0.94000	0.0	1.2E-4	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67523	-0.27;-0.27	5.1	5.1	0.69264	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.67569	2.06	0.51012	D	0.999908	D	0.89917	1.0	D	0.69142	0.962	T	0.80578	-0.1320	10	0.46703	T	0.11	.	18.4949	0.90861	0.0:1.0:0.0:0.0	.	388	O60469	DSCAM_HUMAN	H	388;140	ENSP00000383303:R388H;ENSP00000385342:R140H	ENSP00000383303:R388H	R	-	2	0	DSCAM	40641514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.718000	0.84743	2.344000	0.79699	0.655000	0.94253	CGC		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		9	1300	0	0	0	1	0	9	1300					T	41719644	C	T	41719644	3	4	95	1	0	0	0	0	1	0	0	0	4784	768	27	1	4987	1	DSCAM	21	41719644	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	7070701	41719644	6410251	131	34278											
DIP2A	23181	broad.mit.edu	37	chr21	47918690	47918690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccagtgctgcagccaCgccgggggccgccgctacca	13	18	0	0	rs202158653		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr21:47918690C>T	ENST00000417564.2	+	5	620	c.599C>T	c.(598-600)aCg>aTg	p.T200M	DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000318711.7_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M|DIP2A_ENST00000400274.1_Missense_Mutation_p.T200M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	200					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)		GCTGCAGCCACGCCGGGGGCC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13854	0.0		0.0	False		,,,				2504	0.0					ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(598-600)aCg>aTg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							21	30	27					21																	47918690		2012	4154	6166	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47918690C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.599C>T	21.37:g.47918690C>T	ENSP00000392066:p.Thr200Met					DIP2A_ENST00000466639.1_Missense_Mutation_p.T200M|DIP2A_ENST00000417564.2_Missense_Mutation_p.T200M|DIP2A_ENST00000400274.1_Missense_Mutation_p.T200M|DIP2A_ENST00000457905.3_Missense_Mutation_p.T200M|DIP2A_ENST00000435722.3_Missense_Mutation_p.T200M|DIP2A_ENST00000427143.2_Missense_Mutation_p.T136M	p.T200M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	5	782	+	Breast(49;0.0933)		200					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.599C>T	CCDS46655.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	4.503	0.093291	0.08632	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.23754	1.9;1.89;1.93;1.89;1.92;1.91;1.9	1.13	1.13	0.20643	.	1.142920	0.07083	U	0.837442	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	P;P;D;P;D;P	0.64830	0.819;0.927;0.994;0.819;0.966;0.871	B;B;P;B;B;B	0.62014	0.118;0.322;0.897;0.118;0.176;0.157	T	0.31138	-0.9954	10	0.51188	T	0.08	.	5.6389	0.17552	0.0:1.0:0.0:0.0	.	200;136;200;200;200;200	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	M	200;136;200;200;200;200;200;200	ENSP00000383133:T200M;ENSP00000400528:T136M;ENSP00000323633:T200M;ENSP00000393434:T200M;ENSP00000430249:T200M;ENSP00000415089:T200M;ENSP00000392066:T200M	ENSP00000323633:T200M	T	+	2	0	DIP2A	46743118	0.014000	0.17966	0.061000	0.19648	0.039000	0.13416	1.503000	0.35715	0.922000	0.37019	0.650000	0.86243	ACG		0.667	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		12	226	0	0	0	1	0	12	226					T	47918690	C	T	47918690	3	4	95	1	0	0	0	0	1	0	0	0	4543	536	19	1	617	1	DIP2A	21	47918690	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	6199046	47918690	211205	132	34279											
MYO18B	84700	broad.mit.edu	37	chr22	26423121	26423121	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagtcctctgtggacgatgCgggctgtccagaccttggaa	15	10	1	1	rs375762858		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr22:26423121C>T	ENST00000407587.2	+	43	7353	c.7184C>T	c.(7183-7185)gCg>gTg	p.A2395V	MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V|MYO18B_ENST00000335473.7_Missense_Mutation_p.A2394V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2394			G -> A (in dbSNP:rs6004901).			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						GTGGACGATGCGGGCTGTCCA	0.587																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(7180-7182)gCg>gTg		myosin XVIIIB		C	VAL/ALA	0,3954		0,0,1977	66	72	70		7181	0.5	0	22		70	1,8283		0,1,4141	no	missense	MYO18B	NM_032608.5	64	0,1,6118	TT,TC,CC		0.0121,0.0,0.0082	benign	2394/2568	26423121	1,12237	1977	4142	6119	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423121C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7184C>T	22.37:g.26423121C>T	ENSP00000386096:p.Ala2395Val					MYO18B_ENST00000407587.2_Missense_Mutation_p.A2395V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2394V	p.A2394V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			43	7431	+			2394					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7181C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.414|4.414	0.076583|0.076583	0.08485|0.08485	0.0|0.0	1.21E-4|1.21E-4	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86769|.	-2.15;-2.15;-2.17|.	5.12|5.12	0.465|0.465	0.16711|0.16711	.|.	0.612932|.	0.14443|.	N|.	0.319248|.	T|T	0.40815|0.40815	0.1132|0.1132	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.32968|.	0.266;0.272;0.272;0.392;0.392|.	B;B;B;B;B|.	0.21151|.	0.033;0.015;0.015;0.033;0.033|.	T|T	0.33343|0.33343	-0.9872|-0.9872	10|5	0.51188|.	T|.	0.08|.	.|.	5.895|5.895	0.18935|0.18935	0.1315:0.6423:0.0:0.2262|0.1315:0.6423:0.0:0.2262	.|.	1907;2396;2394;2395;2394|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	V|W	2394;2394;2395|344	ENSP00000441229:A2394V;ENSP00000334563:A2394V;ENSP00000386096:A2395V|.	ENSP00000334563:A2394V|.	A|R	+|+	2|1	0|2	MYO18B|MYO18B	24753121|24753121	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	-0.144000|-0.144000	0.10280|0.10280	0.180000|0.180000	0.19960|0.19960	-0.969000|-0.969000	0.02612|0.02612	GCG|CGG		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		15	323	0	0	0	1	0	15	323					T	26423121	C	T	26423121	3	4	95	1	0	0	0	0	1	0	0	0	10107	768	27	1	7347	1	MYO18B	22	26423121	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08		26423121	24881445	133	34280											
TFIP11	24144	broad.mit.edu	37	chr22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-													tctcaaagttctcccgctcgTcatcatcatcatcaatgcgg					rs145794160	byFrequency	TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	CTA-445C9.14_ENST00000566814.1_RNA|CTA-445C9.14_ENST00000565764.1_RNA|TFIP11_ENST00000405938.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000407431.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000407148.1_In_Frame_Del_p.18_19DD>D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.|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						CTCCCGCTCGTCATCATCATCAT	0.532																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(52-57)gac>ga		tuftelin interacting protein 11			,	3,4261		1,1,2130					,	-10.5	0			93	1,8253		0,1,4126	no	coding,coding	TFIP11	NM_012143.2,NM_001008697.1	,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,	,		4,12514				SO:0001651	inframe_deletion	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906183_26906185delTCA	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.54_56delTGA	22.37:g.26906192_26906194delTCA	ENSP00000384421:p.Asp19del					TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			4	337_339	-			18			Poly-Asp.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	In_Frame_Del	DEL	ENST00000407690.1	37	c.54_56delTGA	CCDS13838.1																																																																																				0.532	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		8	380						8	380	---	---	---	---	-	26906185	TCA	-	26906183	7	5	95	1	0	1	0	1	0	0	0	0	15859	1667	58	0	2505	0	TFIP11	22	26906183	In_Frame_Del	DEL	TCA	TCGA-IB-AAUP-01A-11D-A377-08	483062	26906183	24398383	134	34281											
MXRA5	25878	broad.mit.edu	37	chrX	3239037	3239037	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttaaatgcatcctggtcGgaagagggtgttgataattc	12	5	0	2			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:3239037G>A	ENST00000217939.6	-	5	4843	c.4689C>T	c.(4687-4689)tcC>tcT	p.S1563S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1563						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)				CATCCTGGTCGGAAGAGGGTG	0.453																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(4687-4689)tcC>tcT		matrix-remodelling associated 5							228	201	210					X																	3239037		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3239037G>A	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.4689C>T	X.37:g.3239037G>A							p.S1563S	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	4843	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1563					Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.4689C>T	CCDS14124.1																																																																																				0.453	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		27	441	0	0	0	1	0	27	441					A	3239037	G	A	3239037	2	1	95	1	0	0	0	0	0	0	0	1	10044	1103	39	1		1	MXRA5	23	3239037	Silent	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08		3239037	152031523	135	34282											
OFD1	8481	broad.mit.edu	37	chrX	13778776	13778776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgggggcacttcctccagaCgcctctcttccacacccctt	8	19	1	1			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:13778776C>T	ENST00000340096.6	+	16	2524	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	OFD1_ENST00000380567.1_Missense_Mutation_p.R593C|OFD1_ENST00000380550.3_Missense_Mutation_p.R693C|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	733	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TTCCTCCAGACGCCTCTCTTC	0.567																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1777-1779)Cgc>Tgc		oral-facial-digital syndrome 1							37	40	39					X																	13778776		2203	4298	6501	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13778776C>T	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2197C>T	X.37:g.13778776C>T	ENSP00000344314:p.Arg733Cys					OFD1_ENST00000340096.6_Missense_Mutation_p.R733C|OFD1_ENST00000380550.3_Missense_Mutation_p.R693C|OFD1_ENST00000490265.1_3'UTR	p.R593C			O75665	OFD1_HUMAN			17	2649	+			733					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.1777C>T	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895886	0.33442	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96802	-4.13;-4.1;-1.96	5.4	3.62	0.41486	.	0.544069	0.19617	N	0.109994	D	0.92672	0.7671	M	0.62723	1.935	0.24464	N	0.994429	P;P;P;B;P	0.41546	0.647;0.647;0.754;0.238;0.647	B;B;B;B;B	0.31337	0.091;0.091;0.128;0.04;0.091	D	0.86025	0.1509	10	0.51188	T	0.08	-0.794	7.0936	0.25297	0.0:0.7013:0.1382:0.1605	.	733;693;401;593;733	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	C	693;733;593	ENSP00000369923:R693C;ENSP00000344314:R733C;ENSP00000369941:R593C	ENSP00000344314:R733C	R	+	1	0	OFD1	13688697	0.340000	0.24792	0.135000	0.22099	0.844000	0.47949	0.699000	0.25586	0.473000	0.27368	0.529000	0.55759	CGC		0.567	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		12	207	0	0	0	1	0	12	207					T	13778776	C	T	13778776	3	4	95	1	0	0	0	0	1	0	0	0	10880	536	19	1	2259	1	OFD1	23	13778776	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	10539739	13778776	141491784	136	34283											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-													accttaatattatcaccccaCcccccccaccagatgaagtg							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117	111	113					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		7	368						7	368	---	---	---	---	-	37312611	C	-	37312611	7	5	95	1	0	1	0	1	0	0	0	0	12652	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-IB-AAUP-01A-11D-A377-08	23533835	37312611	117957949	137	34284											
TRO	7216	broad.mit.edu	37	chrX	54956970	54956970	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagtgctggcttcagtggCggactgggcaccagtgctgg	16	11	1	0	rs368748764		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:54956970C>T	ENST00000173898.7	+	12	3925	c.3813C>T	c.(3811-3813)ggC>ggT	p.G1271G	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.G874G|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.G802G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1271	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						GCTTCAGTGGCGGACTGGGCA	0.602													c|||	2	0.000529801	0.0008	0.0014	3775	,	,		13931	0.0		0.0	False		,,,				2504	0.0					ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(3811-3813)ggC>ggT		trophinin			,,	0,3621		0,0,1526,569	57	59	58		3813,,	-6.3	0	X		58	1,6600		0,1,2387,1825	no	coding-synonymous,intron,intron	TRO	NM_001039705.1,NM_016157.2,NM_177556.1	,,	0,1,3913,2394	TT,TC,CC,C		0.0151,0.0,0.0098	,,	1271/1432,,	54956970	1,10221	2095	4213	6308	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956970C>T	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.3813C>T	X.37:g.54956970C>T						TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.G802G|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Silent_p.G874G	p.G1271G	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	3925	+			1271			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.3813C>T	CCDS43959.1																																																																																				0.602	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		32	177	0	0	0	1	0	32	177					T	54956970	C	T	54956970	2	4	95	1	0	0	0	0	0	0	0	1	16627	755	27	1		1	TRO	23	54956970	Silent	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	17644359	54956970	100313590	138	34285											
ATRX	546	broad.mit.edu	37	chrX	76938810	76938810	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agatcagattcctctaaaagTaatgaaacttcattttcaac	4	8	4	3			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:76938810T>C	ENST00000373344.5	-	9	2152	c.1938A>G	c.(1936-1938)ttA>ttG	p.L646L	ATRX_ENST00000395603.3_Silent_p.L608L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	646					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						CCTCTAAAAGTAATGAAACTT	0.403			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1936-1938)ttA>ttG		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						137	150	146					X																	76938810		2203	4294	6497	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938810T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1938A>G	X.37:g.76938810T>C						ATRX_ENST00000395603.3_Silent_p.L608L|ATRX_ENST00000480283.1_5'UTR	p.L646L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2152	-			646					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.1938A>G	CCDS14434.1																																																																																				0.403	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	817	0	0	0	1	0	48	817					C	76938810	T	C	76938810	2	2	95	1	0	0	0	0	0	0	0	1	1209	1635	57	4		4	ATRX	23	76938810	Silent	SNP	T	TCGA-IB-AAUP-01A-11D-A377-08	21981840	76938810	78331750	139	34286											
RPS6KA6	27330	broad.mit.edu	37	chrX	83361395	83361395	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcactgcaaattccatgttgGtagttgcatgtatgcatcgc	9	9	1	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:83361395G>T	ENST00000262752.2	-	15	1350	c.1343C>A	c.(1342-1344)aCc>aAc	p.T448N	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	448	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						TTCCATGTTGGTAGTTGCATG	0.363																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1342-1344)aCc>aAc		ribosomal protein S6 kinase, 90kDa, polypeptide 6							129	95	106					X																	83361395		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83361395G>T	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.1343C>A	X.37:g.83361395G>T	ENSP00000262752:p.Thr448Asn					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.T448N|RPS6KA6_ENST00000495332.1_5'UTR	p.T448N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			15	1350	-			448			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1343C>A	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032610	0.75504	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.45276	0.9;0.9	5.45	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.220899	0.45867	N	0.000332	T	0.49372	0.1553	L	0.51422	1.61	0.53005	D	0.99996	B;B	0.29115	0.233;0.233	B;B	0.42771	0.397;0.345	T	0.51865	-0.8651	10	0.72032	D	0.01	.	14.4183	0.67165	0.0:0.0:0.8326:0.1674	.	448;448	B7ZL90;Q9UK32	.;KS6A6_HUMAN	N	448	ENSP00000262752:T448N;ENSP00000440830:T448N	ENSP00000262752:T448N	T	-	2	0	RPS6KA6	83248051	1.000000	0.71417	0.991000	0.47740	0.875000	0.50365	7.489000	0.81451	0.975000	0.38392	0.422000	0.28245	ACC		0.363	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		12	91	1	0	0.000978159	1	0.000988401	12	91					T	83361395	G	T	83361395	3	4	95	1	0	0	0	0	1	0	0	0	13705	1261	44	3	926	3	RPS6KA6	23	83361395	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	6422585	83361395	71909165	140	34287											
NRK	203447	broad.mit.edu	37	chrX	105167200	105167200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcactctctgaaatcttcCggaatgattggttaactccg	8	10	2	2	rs376128030		TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:105167200C>T	ENST00000243300.9	+	18	3004	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	NRK_ENST00000428173.2_Missense_Mutation_p.R902W	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	901					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						TGAAATCTTCCGGAATGATTG	0.438										HNSCC(51;0.14)																												ENST00000428173.2																			0				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						c.(2704-2706)Cgg>Tgg		Nik related kinase			TRP/ARG	1,3319		0,1,1374,570	92	86	88		2701	1.8	1	X		88	0,6467		0,0,2335,1797	no	missense	NRK	NM_198465.2	101	0,1,3709,2367	TT,TC,CC,C		0.0,0.0301,0.0102	benign	901/1583	105167200	1,9786	1945	4132	6077	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105167200C>T	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.2701C>T	X.37:g.105167200C>T	ENSP00000434830:p.Arg901Trp	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.R901W	p.R902W			Q7Z2Y5	NRK_HUMAN			18	3007	+			901					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.2704C>T		.	.	.	.	.	.	.	.	.	.	c	9.801	1.180645	0.21787	3.01E-4	0.0	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.76709	-1.03;-1.04	3.58	1.77	0.24775	.	0.531001	0.14438	N	0.319547	T	0.56455	0.1986	N	0.12182	0.205	0.80722	D	1	B;B	0.17465	0.022;0.005	B;B	0.09377	0.004;0.001	T	0.46541	-0.9184	10	0.49607	T	0.09	.	5.109	0.14800	0.0:0.7318:0.0:0.2682	.	569;901	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	W	901;902	ENSP00000434830:R901W;ENSP00000438378:R902W	ENSP00000434830:R901W	R	+	1	2	NRK	105053856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.938000	0.28965	0.336000	0.23639	0.597000	0.82753	CGG		0.438	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		18	253	0	0	0	1	0	18	253					T	105167200	C	T	105167200	3	4	95	1	0	0	0	0	1	0	0	0	10697	643	23	1	2771	1	NRK	23	105167200	Missense_Mutation	SNP	C	TCGA-IB-AAUP-01A-11D-A377-08	21805805	105167200	50103360	141	34288											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686396	125686397	+	Frame_Shift_Ins	INS	-	-	G													tcgaagccctggagcctggcINSggggccccacccgcctacct							TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:125686396_125686397insG	ENST00000371126.1	-	1	437_438	c.195_196insC	c.(193-198)cccgccfs	p.A66fs		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	66										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						TGGAGCCTGGCGGGGCCCCACC	0.683																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(193-198)ccccagfs		DDB1 and CUL4 associated factor 12-like 1																																				SO:0001589	frameshift_variant	139170							g.chrX:125686396_125686397insG	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.196dupC	X.37:g.125686400_125686400dupG	ENSP00000360167:p.Ala66fs						p.Q66fs	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	437_438	-			66					Q8IYK3	Frame_Shift_Ins	INS	ENST00000371126.1	37	c.195_196insC	CCDS14610.1																																																																																				0.683	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		8	264						8	264	---	---	---	---	G	125686397	-	G	125686396	7	5	95	1	0	1	1	0	0	0	0	0	4275	768	27	0	1199	0	DCAF12L1	23	125686396	Frame_Shift_Ins	INS	-	TCGA-IB-AAUP-01A-11D-A377-08	20519196	125686396	29584164	142	34289											
BCORL1	63035	broad.mit.edu	37	chrX	129173179	129173179	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcctgctgtcctatggggccGatcccacactggctacctac	9	16	0	0			TCGA-IB-AAUP-01A-11D-A377-08	TCGA-IB-AAUP-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d7d9a4-fa84-406a-839f-340a37e9d40e	58ea8a9c-cea1-44a7-b388-6112787a0305	g.chrX:129173179G>A	ENST00000218147.7	+	10	4737	c.4540G>A	c.(4540-4542)Gat>Aat	p.D1514N	BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588N|BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384N|BCORL1_ENST00000540052.1_Missense_Mutation_p.D1514N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1514					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTATGGGGCCGATCCCACACT	0.567																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4540-4542)Gat>Aat		BCL6 corepressor-like 1							129	83	99					X																	129173179		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129173179G>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4540G>A	X.37:g.129173179G>A	ENSP00000218147:p.Asp1514Asn					BCORL1_ENST00000359304.2_Missense_Mutation_p.D1384N|BCORL1_ENST00000218147.7_Missense_Mutation_p.D1514N|BCORL1_ENST00000303743.5_Missense_Mutation_p.D1588N	p.D1514N	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			9	4584	+			1514					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4540G>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032012	0.93575	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.47	5.47	0.80525	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.78470	0.4288	N	0.16708	0.43	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	T	0.82602	-0.0376	9	0.87932	D	0	-11.2534	18.4786	0.90802	0.0:0.0:1.0:0.0	.	1588;1514	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	N	1514;1588;1384;1514;1188	ENSP00000218147:D1514N;ENSP00000307541:D1588N;ENSP00000352253:D1384N;ENSP00000437775:D1514N;ENSP00000399483:D1188N	ENSP00000218147:D1514N	D	+	1	0	BCORL1	129000860	1.000000	0.71417	0.710000	0.30468	0.866000	0.49608	9.476000	0.97823	2.305000	0.77605	0.529000	0.55759	GAT		0.567	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	200	0	0	0	1	0	4	200					A	129173179	G	A	129173179	3	1	95	1	0	0	0	0	1	0	0	0	1388	1058	37	1	4800	1	BCORL1	23	129173179	Missense_Mutation	SNP	G	TCGA-IB-AAUP-01A-11D-A377-08	3486783	129173179	26097381	143	34290											
EPHB2	2048	broad.mit.edu	37	chr1	23239043	23239043	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtacaaggagagcttcGccaatgccggcttcacctcc	11	14	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:23239043G>A	ENST00000400191.3	+	15	2821	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	935	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)		GGAGAGCTTCGCCAATGCCGG	0.592																																						ENST00000400191.3																			0				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						c.(2803-2805)Gcc>Acc		EPH receptor B2							135	133	133					1																	23239043		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23239043G>A	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.2803G>A	1.37:g.23239043G>A	ENSP00000383053:p.Ala935Thr					EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T	p.A935T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		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)	15	2821	+		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)	935			SAM.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.2803G>A		.	.	.	.	.	.	.	.	.	.	G	3.400	-0.122403	0.06795	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.78	3.85	0.44370	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.066497	0.64402	N	0.000012	T	0.04227	0.0117	L	0.31664	0.95	0.80722	D	1	B;B;B;B	0.17852	0.006;0.024;0.013;0.006	B;B;B;B	0.21708	0.0;0.036;0.014;0.005	T	0.20571	-1.0271	10	0.02654	T	1	.	8.4227	0.32710	0.0846:0.1545:0.7609:0.0	.	877;935;953;936	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	T	877;935;935;936;930	ENSP00000363761:A935T;ENSP00000383053:A935T;ENSP00000363763:A936T;ENSP00000363758:A930T	ENSP00000363755:A877T	A	+	1	0	EPHB2	23111630	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	3.149000	0.50655	1.361000	0.45981	0.650000	0.86243	GCC		0.592	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		30	259	0	0	0	1	0	30	259					A	23239043	G	A	23239043	3	1	96	1	0	0	0	0	1	0	0	0	5193	1087	38	1	2864	1	EPHB2	1	23239043	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		23239043	226011578	1	34291											
RUNX3	864	broad.mit.edu	37	chr1	25229012	25229012	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgctcgtgcccgagggCgtggcgctgtaggggaaggc	19	10	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:25229012C>T	ENST00000308873.6	-	5	857	c.849G>A	c.(847-849)acG>acA	p.T283T	RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000496967.1_5'Flank|RUNX3_ENST00000338888.3_Silent_p.T297T|RUNX3_ENST00000399916.1_Silent_p.T297T	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	283	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCCCGAGGGCGTGGCGCTGT	0.701																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(889-891)acG>acA		runt-related transcription factor 3							41	49	47					1																	25229012		2202	4298	6500	SO:0001819	synonymous_variant	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229012C>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.849G>A	1.37:g.25229012C>T						RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000308873.6_Silent_p.T283T|RUNX3_ENST00000338888.3_Silent_p.T297T	p.T297T	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1329	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	283	MP -> IS (in Ref. 2; CAA56093).		Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Silent	SNP	ENST00000308873.6	37	c.891G>A	CCDS257.1																																																																																				0.701	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		36	326	0	0	0	1	0	36	326					T	25229012	C	T	25229012	2	4	96	1	0	0	0	0	0	0	0	1	13799	755	27	1		1	RUNX3	1	25229012	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	1989969	25229012	224021609	2	34292											
ADC	113451	broad.mit.edu	37	chr1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C													gggttcccccttttgggggaINScccaggcctgccacatcacc					rs576544248		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)accfs	p.T401fs	ADC_ENST00000398167.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.T401fs|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		401					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTTTTGGGGGACCCAGGCCTGC	0.624																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1201-1203)ccafs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583674_33583675insC																												ENST00000294517.6:c.1204dupC	1.37:g.33583677_33583677dupC	ENSP00000294517:p.Thr401fs					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	p.P401fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1788_1789	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	401					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1201_1202insC	CCDS375.1																																																																																				0.624	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			11	401						11	401	---	---	---	---	C	33583675	-	C	33583674	7	5	96	1	0	1	1	0	0	0	0	0	287	275	10	0	1231	0	ADC	1	33583674	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	8354662	33583674	215666947	3	34293											
GBP7	388646	broad.mit.edu	37	chr1	89599084	89599084	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgttccttctgtttttGtcttagcagctcctgttcct	7	12	2	0	rs79037912		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:89599084G>C	ENST00000294671.2	-	10	1657	c.1519C>G	c.(1519-1521)Caa>Gaa	p.Q507E		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	507						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q507E(1)		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)		TTCTGTTTTTGTCTTAGCAGC	0.458																																						ENST00000294671.2																			1	Substitution - Missense(1)	p.Q507E(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1519-1521)Caa>Gaa		guanylate binding protein 7							204	189	194					1																	89599084		2202	4300	6502	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89599084G>C	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.1519C>G	1.37:g.89599084G>C	ENSP00000294671:p.Gln507Glu						p.Q507E	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	10	1657	-		Lung NSC(277;0.0908)	507						Missense_Mutation	SNP	ENST00000294671.2	37	c.1519C>G	CCDS720.1	.	.	.	.	.	.	.	.	.	.	G	1.816	-0.473563	0.04445	.	.	ENSG00000213512	ENST00000294671	T	0.01725	4.67	3.6	2.66	0.31614	Guanylate-binding protein, C-terminal (3);	0.212783	0.40554	N	0.001075	T	0.00384	0.0012	N	0.17800	0.525	0.09310	N	1	B	0.20052	0.041	B	0.25405	0.06	T	0.47018	-0.9149	10	0.02654	T	1	.	9.0852	0.36577	0.0:0.2488:0.7512:0.0	.	507	Q8N8V2	GBP7_HUMAN	E	507	ENSP00000294671:Q507E	ENSP00000294671:Q507E	Q	-	1	0	GBP7	89371672	0.436000	0.25586	0.084000	0.20598	0.621000	0.37620	0.585000	0.23879	0.812000	0.34326	0.591000	0.81541	CAA		0.458	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		6	445	0	0	0	1	0	6	445					C	89599084	G	C	89599084	3	2	96	1	0	0	0	0	1	0	0	0	6307	1386	48	5	405	5	GBP7	1	89599084	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	56015410	89599084	159651537	4	34294											
ARHGEF11	9826	broad.mit.edu	37	chr1	156939813	156939813	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggtctctggctggtgTcaccatatagtggaagtatg	13	7	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:156939813T>C	ENST00000361409.2	-	8	1347	c.605A>G	c.(604-606)gAc>gGc	p.D202G	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D242G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	202					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)					CTGGCTGGTGTCACCATATAG	0.507																																						ENST00000368194.3																			0				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						c.(724-726)gAc>gGc		Rho guanine nucleotide exchange factor (GEF) 11							135	132	133					1																	156939813		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156939813T>C	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.605A>G	1.37:g.156939813T>C	ENSP00000354644:p.Asp202Gly					ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D202G	p.D242G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN			9	1764	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		202					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.725A>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	T	9.766	1.171349	0.21621	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.67698	-0.28;-0.25	5.4	4.22	0.49857	.	0.094778	0.45867	D	0.000338	T	0.33702	0.0872	N	0.24115	0.695	0.29101	N	0.881483	B;B	0.28055	0.062;0.199	B;B	0.30572	0.039;0.117	T	0.13150	-1.0520	10	0.38643	T	0.18	-18.8939	9.4168	0.38525	0.0:0.0:0.1782:0.8218	.	202;242	O15085;O15085-2	ARHGB_HUMAN;.	G	242;202	ENSP00000357177:D242G;ENSP00000354644:D202G	ENSP00000354644:D202G	D	-	2	0	ARHGEF11	155206437	0.077000	0.21312	0.732000	0.30844	0.156000	0.22039	1.293000	0.33353	2.277000	0.76020	0.528000	0.53228	GAC		0.507	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		35	350	0	0	0	1	0	35	350					C	156939813	T	C	156939813	3	2	96	1	0	0	0	0	1	0	0	0	896	1667	58	4	4095	4	ARHGEF11	1	156939813	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	67340729	156939813	92310808	5	34295											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	7	343						7	343	---	---	---	---	A	165712551	-	A	165712550	8	5	96	1	0	1	1	0	0	0	1	0	16047	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	8772737	165712550	83538071	6	34296											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	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						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	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.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		10	419						10	419	---	---	---	---	A	183515267	-	A	183515266	7	5	96	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	17802716	183515266	65735355	7	34297											
NFASC	23114	broad.mit.edu	37	chr1	204970416	204970416	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgagtacatcgacagTaagcattgctgtgcggggtg	16	6	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:204970416T>A	ENST00000401399.1	+	25	3335		c.e25+2		NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367172.4_Splice_Site|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000495396.1_Intron			O94856	NFASC_HUMAN	neurofascin						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)			ACATCGACAGTAAGCATTGCT	0.577																																						ENST00000367172.4																			0				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						c.e28+2		neurofascin							60	51	54					1																	204970416		1567	3582	5149	SO:0001630	splice_region_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204970416T>A	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.3136+2T>A	1.37:g.204970416T>A						NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_Intron				O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		28	3785	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)							B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Splice_Site	SNP	ENST00000401399.1	37		CCDS53460.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541581	0.85917	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000401399;ENST00000413225	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1035	0.72303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFASC	203237039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.978000	0.76147	2.054000	0.61138	0.533000	0.62120	.		0.577	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	Intron	9	70	0	0	0	1	0	9	70					A	204970416	T	A	204970416	5	1	96	1	0	0	0	0	0	0	1	0	10401	1652	57	5	3645	5	NFASC	1	204970416	Splice_Site	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	21455150	204970416	44280205	8	34298											
CR2	1380	broad.mit.edu	37	chr1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcccatagtaccaggaGgatacaaaattagaggctct	10	9	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:207640107G>A	ENST00000367058.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367057.3_Missense_Mutation_p.G99R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.G99*(1)		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						AGTACCAGGAGGATACAAAAT	0.408																																						ENST00000367057.3																			1	Substitution - Nonsense(1)	p.G99*(1)	ovary(1)	NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(295-297)Gga>Aga		complement component (3d/Epstein Barr virus) receptor 2							96	94	95					1																	207640107		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640107G>A	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.295G>A	1.37:g.207640107G>A	ENSP00000356025:p.Gly99Arg					CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000367058.3_Missense_Mutation_p.G99R	p.G99R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	484	+			99			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.295G>A	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458973	0.63401	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.0	4.01	0.46588	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.82287	0.5004	M	0.91140	3.18	0.30549	N	0.765697	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77864	-0.2429	9	0.37606	T	0.19	.	7.4734	0.27361	0.117:0.0:0.883:0.0	.	99;99;99	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	99	ENSP00000356025:G99R;ENSP00000356024:G99R;ENSP00000356026:G99R;ENSP00000404222:G99R	ENSP00000356024:G99R	G	+	1	0	CR2	205706730	0.570000	0.26651	0.867000	0.34043	0.013000	0.08279	2.467000	0.45093	2.607000	0.88179	0.655000	0.94253	GGA		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		47	319	0	0	0	1	0	47	319					A	207640107	G	A	207640107	3	1	96	1	0	0	0	0	1	0	0	0	3851	1001	35	2	301	2	CR2	1	207640107	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2669691	207640107	41610514	9	34299											
PRSS38	339501	broad.mit.edu	37	chr1	228004950	228004950	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgacatgtacgtaggcctcGtaaacctcagggtggccggc	13	11	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228004950G>A	ENST00000366757.3	+	3	376	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	118	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTAGGCCTCGTAAACCTCAG	0.552																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(352-354)Gta>Ata		protease, serine, 38							141	115	124					1																	228004950		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228004950G>A		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.352G>A	1.37:g.228004950G>A	ENSP00000355719:p.Val118Ile						p.V118I	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			3	376	+			118			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.352G>A	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010207	0.19277	.	.	ENSG00000185888	ENST00000366757	D	0.88509	-2.39	4.23	-3.16	0.05217	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.107840	0.07072	N	0.835620	T	0.66197	0.2765	N	0.02181	-0.65	0.09310	N	1	P	0.44627	0.839	B	0.36719	0.231	T	0.62923	-0.6751	10	0.23302	T	0.38	.	5.8588	0.18734	0.5945:0.1533:0.2521:0.0	.	118	A1L453	PRS38_HUMAN	I	118	ENSP00000355719:V118I	ENSP00000355719:V118I	V	+	1	0	PRSS38	226071573	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	0.169000	0.16641	-0.633000	0.05545	0.655000	0.94253	GTA		0.552	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		33	248	0	0	0	1	0	33	248					A	228004950	G	A	228004950	3	1	96	1	0	0	0	0	1	0	0	0	12674	1145	40	1	362	1	PRSS38	1	228004950	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	20364843	228004950	21245671	10	34300											
OBSCN	84033	broad.mit.edu	37	chr1	228547344	228547344	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcccacgtggccaacgaCggtcccccagcaagtccccc	10	19	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228547344C>T	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R6251W	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)				TGGCCAACGACGGTCCCCCAG	0.672																																						ENST00000284548.11																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(18751-18753)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							18	23	22					1																	228547344		2092	4221	6313	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228547344C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2933C>T	1.37:g.228547344C>T						OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W|OBSCN_ENST00000570156.2_Intron	p.R6251W			Q5VST9	OBSCN_HUMAN			81	18825	+		Prostate(94;0.0405)	6252					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.18751C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150761	0.57151	.	.	ENSG00000154358	ENST00000284548;ENST00000366709	T;T	0.57907	0.37;0.52	4.56	3.63	0.41609	.	.	.	.	.	T	0.57814	0.2079	L	0.47716	1.5	0.09310	N	1	D	0.76494	0.999	P	0.53861	0.736	T	0.50311	-0.8843	9	0.52906	T	0.07	.	12.8928	0.58082	0.3102:0.6898:0.0:0.0	.	6251	Q5VST9-3	.	W	6251;3370	ENSP00000284548:R6251W;ENSP00000355670:R3370W	ENSP00000284548:R6251W	R	+	1	2	OBSCN	226613967	0.355000	0.24921	0.001000	0.08648	0.015000	0.08874	1.160000	0.31761	1.119000	0.41883	0.556000	0.70494	CGG		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	54	0	0	0	1	0	6	54					T	228547344	C	T	228547344	1	4	96	0	1	0	0	0	0	0	0	0	10854	527	19	1		1	OBSCN	1	228547344	Intron	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	542394	228547344	20703277	11	34301											
CAD	790	broad.mit.edu	37	chr2	27458194	27458194	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtactggggaggtggccGgctttggggagagccgctgt	19	9	0	1	rs376049827		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:27458194G>A	ENST00000403525.1	+	23	3823	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	CAD_ENST00000264705.4_Missense_Mutation_p.G1290S			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)					GGAGGTGGCCGGCTTTGGGGA	0.567																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(3868-3870)Ggc>Agc		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	G	SER/GLY	0,4406		0,0,2203	84	88	87		3868	-0.6	0.3	2		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAD	NM_004341.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1290/2226	27458194	1,13005	2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27458194G>A	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.3679G>A	2.37:g.27458194G>A	ENSP00000384510:p.Gly1227Ser					CAD_ENST00000403525.1_Missense_Mutation_p.G1227S	p.G1290S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			24	4030	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1290			CPSase (Carbamoyl-phosphate synthase).|CPSase B.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.3868G>A		.	.	.	.	.	.	.	.	.	.	G	15.20	2.762994	0.49574	0.0	1.16E-4	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97352	-4.35;-4.35	5.0	-0.591	0.11675	ATP-grasp fold, subdomain 2 (1);	0.221794	0.56097	D	0.000036	D	0.92051	0.7481	L	0.31157	0.91	0.34968	D	0.752909	B;P	0.39094	0.055;0.659	B;B	0.25140	0.011;0.058	D	0.87432	0.2389	10	0.54805	T	0.06	-1.5323	17.2291	0.86979	0.0:0.0:0.1961:0.8039	.	1227;1290	F8VPD4;P27708	.;PYR1_HUMAN	S	1290;1227	ENSP00000264705:G1290S;ENSP00000384510:G1227S	ENSP00000264705:G1290S	G	+	1	0	CAD	27311698	0.987000	0.35691	0.342000	0.25602	0.942000	0.58702	2.015000	0.40961	-0.347000	0.08299	0.655000	0.94253	GGC		0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			7	412	0	0	0	1	0	7	412					A	27458194	G	A	27458194	3	1	96	1	0	0	0	0	1	0	0	0	2572	1116	39	1	3962	1	CAD	2	27458194	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		27458194	215741179	12	34302											
BIRC6	57448	broad.mit.edu	37	chr2	32774524	32774524	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctcatcccagccatgTcatcttatctacgaaatgat	5	14	4	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:32774524T>C	ENST00000421745.2	+	65	13254	c.13120T>C	c.(13120-13122)Tca>Cca	p.S4374P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4374					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)					CCCAGCCATGTCATCTTATCT	0.393																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13120-13122)Tca>Cca		baculoviral IAP repeat containing 6							124	118	120					2																	32774524		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32774524T>C	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.13120T>C	2.37:g.32774524T>C	ENSP00000393596:p.Ser4374Pro						p.S4374P	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			65	13254	+	Acute lymphoblastic leukemia(172;0.155)		4374					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13120T>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026649	0.75390	.	.	ENSG00000115760	ENST00000421745	T	0.76316	-1.01	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.71036	2.16	0.80722	D	1	P	0.47409	0.895	P	0.49528	0.614	D	0.85059	0.0933	10	0.87932	D	0	.	15.4948	0.75641	0.0:0.0:0.0:1.0	.	4374	Q9NR09	BIRC6_HUMAN	P	4374	ENSP00000393596:S4374P	ENSP00000393596:S4374P	S	+	1	0	BIRC6	32628028	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	6.186000	0.72026	2.066000	0.61787	0.528000	0.53228	TCA		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		38	314	0	0	0	1	0	38	314					C	32774524	T	C	32774524	3	2	96	1	0	0	0	0	1	0	0	0	1440	1667	58	4	13378	4	BIRC6	2	32774524	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	5316330	32774524	210424849	13	34303											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		10	725						10	725	---	---	---	---	-	64778674	GAT	-	64778672	7	5	96	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-IB-AAUQ-01A-22D-A40W-08	32004148	64778672	178420701	14	34304											
CFLAR	8837	broad.mit.edu	37	chr2	201994665	201994665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctgctctttttgtgccGggatgttgctatagatgtgg	14	6	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:201994665G>A	ENST00000309955.3	+	2	592	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	26	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TTTTTGTGCCGGGATGTTGCT	0.478																																					Pancreas(16;548 657 22190 32864 42338)	ENST00000395148.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						c.(76-78)cGg>cAg		CASP8 and FADD-like apoptosis regulator							207	199	201					2																	201994665		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:201994665G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.77G>A	2.37:g.201994665G>A	ENSP00000312455:p.Arg26Gln					CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000309955.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q	p.R26Q			O15519	CFLAR_HUMAN			2	289	+			26			DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.77G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755828	0.49362	.	.	ENSG00000003402	ENST00000309955;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000433445;ENST00000423241;ENST00000425030;ENST00000417748;ENST00000440180;ENST00000457277	T;T;T;T;T;T;T;T;T	0.48201	3.7;0.83;0.82;3.58;4.0;0.86;3.7;0.83;3.58	5.86	4.05	0.47172	DEATH-like (2);Death effector (3);	0.487974	0.22753	N	0.056053	T	0.56543	0.1992	L	0.60957	1.885	0.40149	D	0.976923	P;D;D;D;P;P;B	0.76494	0.956;0.998;0.998;0.999;0.744;0.777;0.449	P;P;P;D;B;B;B	0.65874	0.67;0.9;0.842;0.939;0.249;0.23;0.274	T	0.53690	-0.8403	10	0.27082	T	0.32	-12.9446	6.6207	0.22802	0.146:0.0:0.7082:0.1458	.	26;26;26;26;26;26;26	C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;CFLAR_HUMAN;.;.;.	Q	26	ENSP00000312455:R26Q;ENSP00000339335:R26Q;ENSP00000347757:R26Q;ENSP00000339326:R26Q;ENSP00000345807:R26Q;ENSP00000342809:R26Q;ENSP00000399420:R26Q;ENSP00000406775:R26Q;ENSP00000411535:R26Q	ENSP00000312455:R26Q	R	+	2	0	CFLAR	201702910	1.000000	0.71417	0.918000	0.36340	0.539000	0.34962	3.319000	0.51983	0.805000	0.34159	0.563000	0.77884	CGG		0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3	NM_003879		6	714	0	0	0	1	0	6	714					A	201994665	G	A	201994665	3	1	96	1	0	0	0	0	1	0	0	0	3301	1116	39	1	79	1	CFLAR	2	201994665	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	137215993	201994665	41204708	15	34305											
TOP2B	7155	broad.mit.edu	37	chr3	25641006	25641006	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agatgctttccttttctttgCccctcggcctttaccttaaa	5	13	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:25641006C>A	ENST00000264331.4	-	35	4629	c.4630G>T	c.(4630-4632)Gca>Tca	p.A1544S	TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S|TOP2B_ENST00000435706.2_Missense_Mutation_p.A1539S	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1544					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)	CTTTTCTTTGCCCCTCGGCCT	0.383																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(4615-4617)Gca>Tca		topoisomerase (DNA) II beta 180kDa							179	159	165					3																	25641006		1835	4092	5927	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25641006C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4630G>T	3.37:g.25641006C>A	ENSP00000264331:p.Ala1544Ser					TOP2B_ENST00000264331.4_Missense_Mutation_p.A1544S|TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S	p.A1539S			Q02880	TOP2B_HUMAN			35	4816	-			1544					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4615G>T		.	.	.	.	.	.	.	.	.	.	C	18.53	3.644022	0.67244	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.47177	0.85;0.88;0.89;0.85	5.98	5.98	0.97165	DTHCT (1);	0.102593	0.64402	D	0.000002	T	0.35098	0.0920	N	0.08118	0	0.49389	D	0.999786	P;P	0.43231	0.801;0.763	P;B	0.46510	0.519;0.385	T	0.11941	-1.0567	10	0.05436	T	0.98	-16.4796	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1544;1539	Q02880;Q02880-2	TOP2B_HUMAN;.	S	396;1539;1544;396	ENSP00000446023:A396S;ENSP00000396704:A1539S;ENSP00000264331:A1544S;ENSP00000437352:A396S	ENSP00000264331:A1544S	A	-	1	0	TOP2B	25616010	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.563000	0.53784	2.847000	0.97988	0.591000	0.81541	GCA		0.383	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				20	88	1	0	3.5997e-14	1	3.78549e-14	20	88					A	25641006	C	A	25641006	3	1	96	1	0	0	0	0	1	0	0	0	16419	739	26	3	258	3	TOP2B	3	25641006	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		25641006	172381424	16	34306											
LRIG1	26018	broad.mit.edu	37	chr3	66434562	66434562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcgtcgctcacgggcagCggggaaatccgtgcctccat	13	14	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:66434562C>T	ENST00000273261.3	-	14	2448	c.1924G>A	c.(1924-1926)Gct>Act	p.A642T	LRIG1_ENST00000383703.3_Missense_Mutation_p.A666T|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	642	Ig-like C2-type 2.				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)		TCACGGGCAGCGGGGAAATCC	0.562																																						ENST00000383703.3																			0				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						c.(1996-1998)Gct>Act		leucine-rich repeats and immunoglobulin-like domains 1							136	124	128					3																	66434562		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66434562C>T	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.1924G>A	3.37:g.66434562C>T	ENSP00000273261:p.Ala642Thr					LRIG1_ENST00000273261.3_Missense_Mutation_p.A642T|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron	p.A666T			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2599	-		Lung NSC(201;0.0101)	642			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.1996G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385298	0.82792	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.66815	-0.23;-0.13	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79034	0.4378	L	0.43646	1.37	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	0.78450	-0.2199	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	666;642;642	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	T	642;666;545	ENSP00000273261:A642T;ENSP00000373208:A666T	ENSP00000273261:A642T	A	-	1	0	LRIG1	66517252	1.000000	0.71417	0.095000	0.20976	0.015000	0.08874	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCT		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		21	427	0	0	0	1	0	21	427					T	66434562	C	T	66434562	3	4	96	1	0	0	0	0	1	0	0	0	8982	768	27	1	1381	1	LRIG1	3	66434562	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	40793556	66434562	131587868	17	34307											
CBLB	868	broad.mit.edu	37	chr3	105420979	105420979	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatggcgtctgtgtttccGcataagcactgggtcagagc	12	10	3	1	rs372086643		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:105420979G>A	ENST00000264122.4	-	12	2239	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CBLB_ENST00000394027.3_Missense_Mutation_p.R662W|CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	640	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						CTGTGTTTCCGCATAAGCACT	0.473			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1918-1920)Cgg>Tgg		Cbl proto-oncogene B, E3 ubiquitin protein ligase		G	TRP/ARG	0,4406		0,0,2203	135	137	136		1918	-2.1	0.3	3		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	640/983	105420979	1,13005	2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105420979G>A	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.1918C>T	3.37:g.105420979G>A	ENSP00000264122:p.Arg640Trp					CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W	p.R640W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			12	2239	-			640			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1918C>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828909	0.50845	0.0	1.16E-4	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.84660	-1.29;-1.85;-1.85;-1.88;-1.88	5.73	-2.08	0.07254	.	0.419665	0.25076	N	0.033327	D	0.85296	0.5664	L	0.59436	1.845	0.47862	D	0.999533	P;D;D	0.60160	0.946;0.987;0.978	B;P;P	0.49887	0.421;0.625;0.619	D	0.86495	0.1800	10	0.87932	D	0	-1.9622	17.5349	0.87827	0.0:0.0:0.2863:0.7137	.	662;640;640	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	W	23;640;662;640;640	ENSP00000377598:R23W;ENSP00000264122:R640W;ENSP00000377595:R662W;ENSP00000384816:R640W;ENSP00000384938:R640W	ENSP00000264122:R640W	R	-	1	2	CBLB	106903669	0.389000	0.25205	0.341000	0.25589	0.775000	0.43874	-0.031000	0.12287	-0.213000	0.10094	-0.196000	0.12772	CGG		0.473	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		6	501	0	0	0	1	0	6	501					A	105420979	G	A	105420979	3	1	96	1	0	0	0	0	1	0	0	0	2708	1086	38	1	1062	1	CBLB	3	105420979	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	38986417	105420979	92601451	18	34308											
CCDC80	151887	broad.mit.edu	37	chr3	112324405	112324405	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccccagtgactgctgaatCgccatttcctgtctccgaag	8	14	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:112324405C>T	ENST00000206423.3	-	8	3665	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A	CCDC80_ENST00000439685.2_Silent_p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	904					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						ACTGCTGAATCGCCATTTCCT	0.473																																						ENST00000206423.3																			0				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						c.(2710-2712)gcG>gcA		coiled-coil domain containing 80							124	102	109					3																	112324405		2203	4300	6503	SO:0001819	synonymous_variant	151887							g.chr3:112324405C>T	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.2712G>A	3.37:g.112324405C>T						CCDC80_ENST00000439685.2_Silent_p.A904A	p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN			8	3665	-			904					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	c.2712G>A	CCDS2968.1																																																																																				0.473	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		33	232	0	0	0	1	0	33	232					T	112324405	C	T	112324405	2	4	96	1	0	0	0	0	0	0	0	1	2861	871	31	1		1	CCDC80	3	112324405	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	6903426	112324405	85698025	19	34309											
KALRN	8997	broad.mit.edu	37	chr3	123953690	123953690	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagggggtcgtgataagCgaggcggacccatcctgacc	15	11	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:123953690C>T	ENST00000240874.3	+	3	314	c.157C>T	c.(157-159)Cga>Tga	p.R53*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R53*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	53	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCGTGATAAGCGAGGCGGACC	0.507																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(157-159)Cga>Tga		kalirin, RhoGEF kinase							38	32	34					3																	123953690		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:123953690C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.157C>T	3.37:g.123953690C>T	ENSP00000240874:p.Arg53*					KALRN_ENST00000240874.3_Nonsense_Mutation_p.R53*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*	p.R53*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			3	284	+			53			CRAL-TRIO.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	c.157C>T	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	c	39	7.391663	0.98255	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3878	0.94565	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000240874:R53X	R	+	1	2	KALRN	125436380	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.304000	0.43655	2.573000	0.86826	0.651000	0.88453	CGA		0.507	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		9	61	0	0	0	1	0	9	61					T	123953690	C	T	123953690	4	4	96	1	0	0	0	0	0	1	0	0	8005	760	27	1	167	1	KALRN	3	123953690	Nonsense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	11629285	123953690	74068740	20	34310											
TXNDC6	347736	broad.mit.edu	37	chr3	138022470	138022470	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagggcatttctgtgccGtactgagctcggagactggg	15	8	1	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:138022470G>A	ENST00000333911.3	-	10	834	c.807C>T	c.(805-807)taC>taT	p.Y269Y	NME9_ENST00000383180.2_Silent_p.Y208Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000341790.5_Silent_p.Y206Y|NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000484930.1_Silent_p.Y206Y			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	269	NDK.				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)	p.Y208Y(1)									TTTCTGTGCCGTACTGAGCTC	0.438																																						ENST00000383180.2																			1	Substitution - coding silent(1)	p.Y208Y(1)	pancreas(1)								c.(622-624)taC>taT		NME/NM23 family member 9							68	65	66					3																	138022470		2203	4300	6503	SO:0001819	synonymous_variant	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138022470G>A	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.807C>T	3.37:g.138022470G>A						NME9_ENST00000341790.5_Silent_p.Y206Y|NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000484930.1_Silent_p.Y206Y|NME9_ENST00000333911.3_Silent_p.Y269Y	p.Y208Y	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN			11	861	-			269			NDK.		Q7Z4A8|Q8N1V7	Silent	SNP	ENST00000333911.3	37	c.624C>T		.	.	.	.	.	.	.	.	.	.	G	10.32	1.318117	0.23994	.	.	ENSG00000181322	ENST00000474690	.	.	.	5.73	-10.1	0.00402	.	.	.	.	.	T	0.62036	0.2395	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	-7.3005	17.1751	0.86839	0.7831:0.0:0.2169:0.0	.	.	.	.	M	148	.	.	T	-	2	0	TXNDC6	139505160	0.035000	0.19736	0.223000	0.23860	0.270000	0.26580	-1.453000	0.02383	-2.438000	0.00552	-0.954000	0.02651	ACG		0.438	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1	NM_178130		5	208	0	0	0	1	0	5	208					A	138022470	G	A	138022470	2	1	96	1	0	0	0	0	0	0	0	1	16854	1140	40	1		1	TXNDC6	3	138022470	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	14068780	138022470	59999960	21	34311											
DHX36	170506	broad.mit.edu	37	chr3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T													tctgttcctgattctaaacaINStttttttttcttgatttatc					rs373108427		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					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)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	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.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		7	272						7	272	---	---	---	---	T	154032978	-	T	154032977	7	5	96	1	0	1	1	0	0	0	0	0	4525	217	8	0	2657	0	DHX36	3	154032977	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	16010507	154032977	43989453	22	34312											
C3orf59	151963	broad.mit.edu	37	chr3	192517236	192517236	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggcacaaggctgagtggcGcatgtcgagtgtcacaggct	16	9	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:192517236G>A	ENST00000392452.2	-	2	735	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	139							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGAGTGGCGCATGTCGAGT	0.507																																						ENST00000392452.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(415-417)Cgc>Tgc		Mab-21 domain containing 2							92	81	85					3																	192517236		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192517236G>A	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.415C>T	3.37:g.192517236G>A	ENSP00000376246:p.Arg139Cys						p.R139C	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	735	-			139					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.415C>T	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517547	0.44763	.	.	ENSG00000180611	ENST00000392452	T	0.08896	3.04	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	M	0.65975	2.015	0.80722	D	1	P	0.48294	0.908	B	0.39299	0.296	T	0.01330	-1.1383	10	0.59425	D	0.04	-20.9645	18.6977	0.91607	0.0:0.0:1.0:0.0	.	139	Q8IYB1	M21D2_HUMAN	C	139	ENSP00000376246:R139C	ENSP00000376246:R139C	R	-	1	0	MB21D2	193999930	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.110000	0.71535	2.652000	0.90054	0.655000	0.94253	CGC		0.507	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		5	254	0	0	0	1	0	5	254					A	192517236	G	A	192517236	3	1	96	1	0	0	0	0	1	0	0	0	2244	1087	38	1	1064	1	C3orf59	3	192517236	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	38484259	192517236	5505194	23	34313											
OPA1	4976	broad.mit.edu	37	chr3	193374974	193374974	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ttaaagaggctgttaaggaaGaaagtattaaacgacacaag	10	4	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:193374974G>C	ENST00000392438.3	+	21	2353	c.2119G>C	c.(2119-2121)Gaa>Caa	p.E707Q	OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361510.2_Missense_Mutation_p.E762Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	707					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)		TGTTAAGGAAGAAAGTATTAA	0.383																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2284-2286)Gaa>Caa		optic atrophy 1 (autosomal dominant)							103	107	106					3																	193374974		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193374974G>C	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.2119G>C	3.37:g.193374974G>C	ENSP00000376233:p.Glu707Gln					OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E707Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q	p.E762Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	23	2518	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		707					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.2284G>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192617	0.94960	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95622	-3.34;-3.35;-3.31;-3.33;-3.37;-3.76	5.78	5.78	0.91487	.	0.204266	0.53938	D	0.000049	D	0.97470	0.9172	M	0.69823	2.125	0.80722	D	1	P;D;D;D;P;P;D;D	0.76494	0.943;0.999;0.967;0.967;0.95;0.943;0.997;0.969	P;D;P;P;P;P;D;P	0.75484	0.695;0.915;0.81;0.81;0.638;0.695;0.986;0.759	D	0.97412	1.0003	10	0.54805	T	0.06	-23.6123	18.996	0.92813	0.0:0.0:1.0:0.0	.	671;707;689;708;725;744;726;762	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	744;707;762;726;725;708	ENSP00000354681:E744Q;ENSP00000376233:E707Q;ENSP00000355324:E762Q;ENSP00000355311:E726Q;ENSP00000354429:E725Q;ENSP00000354781:E708Q	ENSP00000354781:E708Q	E	+	1	0	OPA1	194857668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	GAA		0.383	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		60	477	0	0	0	1	0	60	477					C	193374974	G	C	193374974	3	2	96	1	0	0	0	0	1	0	0	0	10913	943	33	5	2374	5	OPA1	3	193374974	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	857738	193374974	4647456	24	34314											
MFI2	4241	broad.mit.edu	37	chr3	196733535	196733536	+	Frame_Shift_Ins	INS	-	-	G													aaactgggacacctcggctcINSgggccccgttggggcacagc							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:196733535_196733536insG	ENST00000296350.5	-	14	1935_1936	c.1822_1823insC	c.(1822-1824)cgafs	p.R608fs	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	608	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.R608*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACCTCGGCTCGGGCCCCGTTG	0.624																																						ENST00000296350.5																			1	Substitution - Nonsense(1)	p.R608*(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(1822-1824)agcfs		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5																																				SO:0001589	frameshift_variant	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196733535_196733536insG		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1823dupC	3.37:g.196733538_196733538dupG	ENSP00000296350:p.Arg608fs						p.S608fs	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	14	1935_1936	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		608			Transferrin-like 2.		Q9BQE2	Frame_Shift_Ins	INS	ENST00000296350.5	37	c.1822_1823insC	CCDS3325.1																																																																																				0.624	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			14	176						14	176	---	---	---	---	G	196733536	-	G	196733535	7	5	96	1	0	1	1	0	0	0	0	0	9563	884	31	0	405	0	MFI2	3	196733535	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	3358561	196733535	1288895	25	34315											
EVC	2121	broad.mit.edu	37	chr4	5755572	5755572	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaccaggtggagggaaCggcaaaactcacgctggccc	14	13	2	0	rs146028983		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:5755572C>T	ENST00000264956.6	+	10	1560	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	EVC_ENST00000509451.1_Missense_Mutation_p.T459M|EVC_ENST00000382674.2_Missense_Mutation_p.T459M	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	459					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)				GTGGAGGGAACGGCAAAACTC	0.567																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1375-1377)aCg>aTg		Ellis van Creveld syndrome		C	MET/THR	0,4406		0,0,2203	100	94	96		1376	-4.5	0	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	EVC	NM_153717.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	459/993	5755572	1,13005	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755572C>T	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.1376C>T	4.37:g.5755572C>T	ENSP00000264956:p.Thr459Met					EVC_ENST00000264956.6_Missense_Mutation_p.T459M|EVC_ENST00000509451.1_Missense_Mutation_p.T459M	p.T459M			P57679	EVC_HUMAN			10	1560	+		Myeloproliferative disorder(84;0.117)	459						Missense_Mutation	SNP	ENST00000264956.6	37	c.1376C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367170	0.41902	0.0	1.16E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.50813	0.73;0.73;0.79	5.04	-4.46	0.03536	.	1.022650	0.07791	N	0.955013	T	0.24967	0.0606	N	0.12182	0.205	0.09310	N	0.999999	B	0.18310	0.027	B	0.11329	0.006	T	0.19418	-1.0306	10	0.36615	T	0.2	.	7.4723	0.27355	0.1314:0.1965:0.0:0.6721	.	459	P57679	EVC_HUMAN	M	459	ENSP00000264956:T459M;ENSP00000372120:T459M;ENSP00000426774:T459M	ENSP00000264956:T459M	T	+	2	0	EVC	5806473	0.000000	0.05858	0.000000	0.03702	0.620000	0.37586	-2.519000	0.00952	-0.827000	0.04278	0.561000	0.74099	ACG		0.567	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			52	265	0	0	0	1	0	52	265					T	5755572	C	T	5755572	3	4	96	1	0	0	0	0	1	0	0	0	5303	536	19	1	1414	1	EVC	4	5755572	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		5755572	185398704	26	34316											
DNAH5	1767	broad.mit.edu	37	chr5	13766211	13766211	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaacagcagcagtacGcaatccatgatccgcatgat	8	11	0	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:13766211G>A	ENST00000265104.4	-	59	10079	c.9975C>T	c.(9973-9975)tgC>tgT	p.C3325C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3325	Stalk. {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)					GCAGCAGTACGCAATCCATGA	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9973-9975)tgC>tgT		dynein, axonemal, heavy chain 5							113	109	110					5																	13766211		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766211G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9975C>T	5.37:g.13766211G>A						DNAH5_ENST00000504001.3_Intron	p.C3325C	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			59	10079	-	Lung NSC(4;0.00476)		3325			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9975C>T	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		62	382	0	0	0	1	0	62	382					A	13766211	G	A	13766211	2	1	96	1	0	0	0	0	0	0	0	1	4620	1079	38	1		1	DNAH5	5	13766211	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		13766211	167149049	27	34317											
SPEF2	79925	broad.mit.edu	37	chr5	35771762	35771762	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagaagaaaaagaaaaccagCcagcagaccccaaagaaaaa	7	9	0	5			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:35771762C>A	ENST00000356031.3	+	27	4007	c.3853C>A	c.(3853-3855)Cca>Aca	p.P1285T	SPEF2_ENST00000440995.2_Missense_Mutation_p.P1280T|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1285					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)			AGAAAACCAGCCAGCAGACCC	0.383																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3838-3840)Cca>Aca		sperm flagellar 2							38	39	38					5																	35771762		1801	4074	5875	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35771762C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3853C>A	5.37:g.35771762C>A	ENSP00000348314:p.Pro1285Thr					SPEF2_ENST00000356031.3_Missense_Mutation_p.P1285T|CTD-2113L7.1_ENST00000510433.1_RNA	p.P1280T			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		27	3838	+	all_lung(31;7.56e-05)		1285					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3838C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	9.684	1.150203	0.21371	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.05925	3.4;3.37	5.68	0.75	0.18387	.	0.878841	0.10350	N	0.685256	T	0.06781	0.0173	L	0.50333	1.59	0.09310	N	1	B;B	0.16396	0.017;0.005	B;B	0.12156	0.007;0.002	T	0.38802	-0.9644	10	0.33141	T	0.24	.	6.8626	0.24076	0.2918:0.5705:0.0:0.1377	.	1280;1285	Q9C093-2;Q9C093	.;SPEF2_HUMAN	T	1285;1280	ENSP00000348314:P1285T;ENSP00000412125:P1280T	ENSP00000348314:P1285T	P	+	1	0	SPEF2	35807519	0.000000	0.05858	0.025000	0.17156	0.998000	0.95712	0.441000	0.21611	-0.073000	0.12842	0.591000	0.81541	CCA		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		20	134	1	0	2.37509e-13	1	2.46586e-13	20	134					A	35771762	C	A	35771762	3	1	96	1	0	0	0	0	1	0	0	0	15087	739	26	3	3980	3	SPEF2	5	35771762	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	22005551	35771762	145143498	28	34318											
LIFR	3977	broad.mit.edu	37	chr5	38493808	38493808	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccacttaatgacgtagtcGcaagtcatgttggggtcgta	11	9	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:38493808G>A	ENST00000263409.4	-	14	2127	c.1965C>T	c.(1963-1965)tgC>tgT	p.C655C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.C655C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	655	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)					TGACGTAGTCGCAAGTCATGT	0.443			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(1963-1965)tgC>tgT		leukemia inhibitory factor receptor alpha							173	152	159					5																	38493808		2203	4300	6503	SO:0001819	synonymous_variant	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38493808G>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1965C>T	5.37:g.38493808G>A						LIFR_ENST00000453190.2_Silent_p.C655C|LIFR_ENST00000503088.1_5'UTR	p.C655C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			14	2127	-	all_lung(31;0.00021)		655			Fibronectin type-III 5.		Q6LCD9	Silent	SNP	ENST00000263409.4	37	c.1965C>T	CCDS3927.1																																																																																				0.443	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		43	398	0	0	0	1	0	43	398					A	38493808	G	A	38493808	2	1	96	1	0	0	0	0	0	0	0	1	8812	1079	38	1		1	LIFR	5	38493808	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2722046	38493808	142421452	29	34319											
CMYA5	202333	broad.mit.edu	37	chr5	79024983	79024983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaagtgaaaaaggttcGgaaaaggactcataagtcaa	12	4	2	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:79024983G>A	ENST00000446378.2	+	2	426	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132					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)		AAAAAGGTTCGGAAAAGGACT	0.408																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(394-396)cGg>cAg		cardiomyopathy associated 5							133	130	131					5																	79024983		1857	4097	5954	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79024983G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.395G>A	5.37:g.79024983G>A	ENSP00000394770:p.Arg132Gln						p.R132Q	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	426	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	132					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.395G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705355	0.48412	.	.	ENSG00000164309	ENST00000446378	T	0.57107	0.42	5.37	3.57	0.40892	.	0.470309	0.18113	N	0.151298	T	0.34687	0.0906	L	0.36672	1.1	0.23107	N	0.998284	P	0.52577	0.954	B	0.35899	0.213	T	0.32981	-0.9886	10	0.87932	D	0	.	5.7546	0.18166	0.222:0.143:0.6351:0.0	.	132	Q8N3K9	CMYA5_HUMAN	Q	132	ENSP00000394770:R132Q	ENSP00000394770:R132Q	R	+	2	0	CMYA5	79060739	0.991000	0.36638	0.690000	0.30148	0.895000	0.52256	2.194000	0.42668	0.620000	0.30215	-0.176000	0.13171	CGG		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		6	395	0	0	0	1	0	6	395					A	79024983	G	A	79024983	3	1	96	1	0	0	0	0	1	0	0	0	3599	1116	39	1	401	1	CMYA5	5	79024983	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	40531175	79024983	101890277	30	34320											
MYOT	9499	broad.mit.edu	37	chr5	137217667	137217667	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaaatattcttgtagaagtaGatcaacctcaaggggagatg	10	5	3	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:137217667G>A	ENST00000239926.4	+	6	1063	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	230	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTAGAAGTAGATCAACCTCA	0.338																																						ENST00000239926.4																			0				cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(688-690)aGa>aAa		myotilin							96	94	95					5																	137217667		2203	4300	6503	SO:0001583	missense	9499				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	g.chr5:137217667G>A	AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.689G>A	5.37:g.137217667G>A	ENSP00000239926:p.Arg230Lys					MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA	p.R230K	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		6	1063	+			230			Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	c.689G>A	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362623	0.61403	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68479	-0.31;-0.24;-0.33	5.61	5.61	0.85477	.	0.138225	0.50627	D	0.000114	T	0.55673	0.1935	N	0.24115	0.695	0.43183	D	0.995004	B	0.26483	0.15	B	0.19946	0.027	T	0.50668	-0.8801	10	0.36615	T	0.2	.	19.6288	0.95691	0.0:0.0:1.0:0.0	.	230	Q9UBF9	MYOTI_HUMAN	K	230;46;115	ENSP00000239926:R230K;ENSP00000391185:R46K;ENSP00000426281:R115K	ENSP00000239926:R230K	R	+	2	0	MYOT	137245566	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.845000	0.86875	2.644000	0.89710	0.591000	0.81541	AGA		0.338	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2	NM_006790		46	234	0	0	0	1	0	46	234					A	137217667	G	A	137217667	3	1	96	1	0	0	0	0	1	0	0	0	10135	942	33	2	707	2	MYOT	5	137217667	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	58192684	137217667	43697593	31	34321											
PCDHA6	56142	broad.mit.edu	37	chr5	140209287	140209287	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtttcaggtgagcgcGcgcgacgcgggcgtgccgcc	17	14	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140209287G>A	ENST00000529310.1	+	1	1725	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	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)			AGGTGAGCGCGCGCGACGCGG	0.682																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1609-1611)gcG>gcA									63	72	69					5																	140209287		2202	4297	6499	SO:0001819	synonymous_variant	0							g.chr5:140209287G>A	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.1611G>A	5.37:g.140209287G>A						PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.A537A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1725	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1611G>A	CCDS47281.1																																																																																				0.682	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		86	559	0	0	0	1	0	86	559					A	140209287	G	A	140209287	2	1	96	1	0	0	0	0	0	0	0	1	11570	1074	38	1		1	PCDHA6	5	140209287	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2991620	140209287	40705973	32	34322											
PCDHA11	56138	broad.mit.edu	37	chr5	140248986	140248986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagctgtgcgggcagagcGcggagtgcagcatccacctg	17	11	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140248986G>A	ENST00000398640.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	100	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCAGAGCGCGGAGTGCAG	0.562																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(298-300)Gcg>Acg									143	159	154					5																	140248986		2203	4297	6500	SO:0001583	missense	0							g.chr5:140248986G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.298G>A	5.37:g.140248986G>A	ENSP00000381636:p.Ala100Thr					PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.A100T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	298	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.298G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952502	0.18431	.	.	ENSG00000249158	ENST00000398640	T	0.38560	1.13	5.59	-3.03	0.05429	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.28200	0.0696	L	0.35644	1.08	0.09310	N	1	B;B	0.33212	0.055;0.402	B;B	0.24541	0.009;0.054	T	0.07908	-1.0748	9	0.39692	T	0.17	.	12.5858	0.56416	0.0:0.4551:0.3038:0.2411	.	100;100	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	100	ENSP00000381636:A100T	ENSP00000381636:A100T	A	+	1	0	PCDHA11	140229170	0.000000	0.05858	0.072000	0.20136	0.403000	0.30841	-4.056000	0.00304	-0.519000	0.06444	-0.181000	0.13052	GCG		0.562	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		127	1017	0	0	0	1	0	127	1017					A	140248986	G	A	140248986	3	1	96	1	0	0	0	0	1	0	0	0	11563	1087	38	1	300	1	PCDHA11	5	140248986	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	39699	140248986	40666274	33	34323											
PCDHB6	56130	broad.mit.edu	37	chr5	140532201	140532201	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaaacccccacctctcGgaatagcttcccgttcagtt	8	14	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140532201G>A	ENST00000231136.1	+	1	2363	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	788					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)			CCCACCTCTCGGAATAGCTTC	0.418																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2362-2364)cGg>cAg									74	83	80					5																	140532201		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532201G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2363G>A	5.37:g.140532201G>A	ENSP00000231136:p.Arg788Gln					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	p.R788Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2363	+			788					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2363G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417419	0.25552	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.13196	2.61;2.61	4.71	-1.74	0.08056	.	.	.	.	.	T	0.10035	0.0246	L	0.39633	1.23	0.09310	N	1	B	0.22983	0.078	B	0.19148	0.024	T	0.30475	-0.9977	9	0.44086	T	0.13	.	6.4956	0.22140	0.2801:0.3536:0.3662:0.0	.	788	Q9Y5E3	PCDB6_HUMAN	Q	652;788	ENSP00000438466:R652Q;ENSP00000231136:R788Q	ENSP00000231136:R788Q	R	+	2	0	PCDHB6	140512385	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.899000	0.04101	-0.333000	0.08476	-1.660000	0.00751	CGG		0.418	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		21	220	0	0	0	1	0	21	220					A	140532201	G	A	140532201	3	1	96	1	0	0	0	0	1	0	0	0	11588	1116	39	1	2365	1	PCDHB6	5	140532201	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	283215	140532201	40383059	34	34324											
PCDHGA4	56111	broad.mit.edu	37	chr5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctggcggagcgcggagtcCgcatcgtctccagaggtagg	17	11	1	1	rs375047889		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(193-195)Cgc>Tgc				C	,,,CYS/ARG,,CYS/ARG	2,4384		0,2,2191	54	66	62		,,,193,,193	5.7	1	5		62	0,8600		0,0,4300	no	intron,intron,intron,missense,intron,missense	PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1	,,,180,,180	0,2,6491	TT,TC,CC		0.0,0.0456,0.0154	,,,,,	,,,65/932,,65/821	140734960	2,12984	2193	4300	6493	SO:0001583	missense	0							g.chr5:140734960C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.193C>T	5.37:g.140734960C>T	ENSP00000458570:p.Arg65Cys					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.R65C	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.193C>T	CCDS58979.1																																																																																				0.647	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		19	462	0	0	0	1	0	19	462					T	140734960	C	T	140734960	3	4	96	1	0	0	0	0	1	0	0	0	11598	652	23	1	195	1	PCDHGA4	5	140734960	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	202759	140734960	40180300	35	34325											
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	15	15	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1513-1515)gCg>gTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							137	136	136					5																	141051740		2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141051740G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1514C>T	5.37:g.141051740G>A	ENSP00000239440:p.Ala505Val					ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V	p.A505V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			10	1579	-			505			Arf-GAP.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1514C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142199	0.77775	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.51071	0.72;0.72;0.72	3.51	3.51	0.40186	.	0.151693	0.41500	U	0.000870	T	0.63640	0.2528	L	0.59436	1.845	0.51012	D	0.999906	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.941;0.99	T	0.68633	-0.5357	10	0.87932	D	0	.	13.9666	0.64213	0.0:0.0:1.0:0.0	.	167;427;505	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	V	427;505;167	ENSP00000421826:A427V;ENSP00000239440:A505V;ENSP00000421468:A167V	ENSP00000239440:A505V	A	-	2	0	ARAP3	141031924	1.000000	0.71417	0.976000	0.42696	0.538000	0.34931	9.611000	0.98342	1.789000	0.52484	0.563000	0.77884	GCG		0.612	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	966	0	0	0	1	0	9	966					A	141051740	G	A	141051740	3	1	96	1	0	0	0	0	1	0	0	0	840	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	316780	141051740	39863520	36	34326											
FOXI1	2299	broad.mit.edu	37	chr5	169533031	169533031	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	agttccccagcatcggccagGagccccccgagatgaacctc	10	17	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:169533031G>C	ENST00000306268.6	+	1	131	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	FOXI1_ENST00000449804.2_Missense_Mutation_p.E24Q			Q12951	FOXI1_HUMAN	forkhead box I1	24	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCGGCCAGGAGCCCCCCGA	0.701									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(70-72)Gag>Cag		forkhead box I1							24	27	26					5																	169533031		2202	4298	6500	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533031G>C	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.70G>C	5.37:g.169533031G>C	ENSP00000304286:p.Glu24Gln					FOXI1_ENST00000306268.6_Missense_Mutation_p.E24Q	p.E24Q	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	115	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	24			Pro-rich.		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.70G>C	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375475	0.82682	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95137	-3.57;-3.62	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.96	D	0.97246	0.9894	10	0.56958	D	0.05	.	17.2157	0.86943	0.0:0.0:1.0:0.0	.	24;24	Q12951-2;Q12951	.;FOXI1_HUMAN	Q	24	ENSP00000304286:E24Q;ENSP00000415483:E24Q	ENSP00000304286:E24Q	E	+	1	0	FOXI1	169465609	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.655000	0.98512	2.056000	0.61249	0.491000	0.48974	GAG		0.701	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		10	122	0	0	0	1	0	10	122					C	169533031	G	C	169533031	3	2	96	1	0	0	0	0	1	0	0	0	6036	1175	41	5	72	5	FOXI1	5	169533031	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	28481291	169533031	11382229	37	34327											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212|rs368069269	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		10	319						10	319	---	---	---	---	-	7393452	GAC	-	7393450	7	5	96	1	0	1	0	1	0	0	0	0	13427	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-AAUQ-01A-22D-A40W-08		7393450	163721617	38	34328											
GLO1	2739	broad.mit.edu	37	chr6	38650584	38650584	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaaacaggcaaacttacCgaatcctcgagggtctgaat	8	9	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:38650584C>T	ENST00000373365.4	-	4	462	c.376G>A	c.(376-378)Ggt>Agt	p.G126S	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	126					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	GCAAACTTACCGAATCCTCGA	0.338																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.e4+1		glyoxalase I	Glutathione(DB00143)						131	111	118					6																	38650584		2203	4300	6503	SO:0001630	splice_region_variant	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38650584C>T	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.376+1G>A	6.37:g.38650584C>T						GLO1_ENST00000470973.1_5'UTR	p.G126_splice	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			4	462	-			126					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Splice_Site	SNP	ENST00000373365.4	37	c.376_splice	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606204	0.87157	.	.	ENSG00000124767	ENST00000373365	T	0.69806	-0.43	5.71	5.71	0.89125	Glyoxalase/fosfomycin resistance/dioxygenase (1);Glyoxalase I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85754	0.5770	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88482	0.3069	9	.	.	.	-26.2595	19.4781	0.94996	0.0:1.0:0.0:0.0	.	126	Q04760	LGUL_HUMAN	S	126	ENSP00000362463:G126S	.	G	-	1	0	GLO1	38758562	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	6.947000	0.75959	2.709000	0.92574	0.655000	0.94253	GGT		0.338	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708	Missense_Mutation	8	247	0	0	0	1	0	8	247					T	38650584	C	T	38650584	5	4	96	1	0	0	0	0	0	0	1	0	6478	666	23	1	190	1	GLO1	6	38650584	Splice_Site	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	31257134	38650584	132464483	39	34329											
ARHGAP18	93663	broad.mit.edu	37	chr6	129920398	129920398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttgcttttcatatttttctCggtcataagccattttcttc	4	10	4	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:129920398C>T	ENST00000368149.2	-	12	1764	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	ARHGAP18_ENST00000463225.1_5'Flank	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)		ATATTTTTCTCGGTCATAAGC	0.294																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1675-1677)cGa>cAa		Rho GTPase activating protein 18							115	113	114					6																	129920398		2203	4299	6502	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129920398C>T	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1676G>A	6.37:g.129920398C>T	ENSP00000357131:p.Arg559Gln						p.R559Q	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	12	1764	-			559						Missense_Mutation	SNP	ENST00000368149.2	37	c.1676G>A	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259937	0.80246	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.37	5.37	0.77165	.	0.062436	0.64402	D	0.000008	T	0.63861	0.2547	M	0.79258	2.445	0.44547	D	0.997506	P;D	0.61080	0.722;0.989	B;P	0.47376	0.117;0.545	T	0.68096	-0.5499	8	.	.	.	.	19.1474	0.93473	0.0:1.0:0.0:0.0	.	559;559	A9UK01;Q8N392	.;RHG18_HUMAN	Q	514;559	.	.	R	-	2	0	ARHGAP18	129962091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.248000	0.65421	2.511000	0.84671	0.650000	0.86243	CGA		0.294	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		16	197	0	0	0	1	0	16	197					T	129920398	C	T	129920398	3	4	96	1	0	0	0	0	1	0	0	0	868	884	31	1	331	1	ARHGAP18	6	129920398	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	91269814	129920398	41194669	40	34330											
GLI3	2737	broad.mit.edu	37	chr7	42017203	42017203	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcgcgatcagaggcaTttgagaaagccttgttgcaa	13	7	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:42017203T>G	ENST00000395925.3	-	12	1850	c.1766A>C	c.(1765-1767)aAt>aCt	p.N589T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	589					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						ATCAGAGGCATTTGAGAAAGC	0.468									Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1765-1767)aAt>aCt		GLI family zinc finger 3							239	196	211					7																	42017203		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42017203T>G		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1766A>C	7.37:g.42017203T>G	ENSP00000379258:p.Asn589Thr		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	GLI3_ENST00000479210.1_5'UTR	p.N589T	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			12	1850	-			589					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1766A>C	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124654	0.77436	.	.	ENSG00000106571	ENST00000395925	T	0.16073	2.37	5.82	5.82	0.92795	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	0.27027	0.0662	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.15896	-1.0421	10	0.87932	D	0	.	16.1917	0.81992	0.0:0.0:0.0:1.0	.	589	P10071	GLI3_HUMAN	T	589	ENSP00000379258:N589T	ENSP00000379258:N589T	N	-	2	0	GLI3	41983728	1.000000	0.71417	0.453000	0.27007	0.623000	0.37688	7.991000	0.88244	2.216000	0.71823	0.533000	0.62120	AAT		0.468	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		6	182	0	0	0	1	0	6	182					G	42017203	T	G	42017203	3	3	96	1	0	0	0	0	1	0	0	0	6468	1493	52	4	2992	4	GLI3	7	42017203	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08		42017203	117121460	41	34331											
DTX2	113878	broad.mit.edu	37	chr7	76112193	76112193	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaactggccccgtgtcaggcCgctaccgccactccatgacc	10	18	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:76112193C>T	ENST00000324432.5	+	5	1147	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	DTX2_ENST00000430490.2_Missense_Mutation_p.R213C|DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	213					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						CGTGTCAGGCCGCTACCGCCA	0.662																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(637-639)Cgc>Tgc		deltex homolog 2 (Drosophila)							68	74	72					7																	76112193		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112193C>T		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.637C>T	7.37:g.76112193C>T	ENSP00000322885:p.Arg213Cys					DTX2_ENST00000446820.2_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000430490.2_Missense_Mutation_p.R213C	p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1147	+			213					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.637C>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	28.4	4.918915	0.92249	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.14022	2.58;2.54;2.59;2.58;2.58;2.54	5.18	5.18	0.71444	.	0.116998	0.64402	D	0.000014	T	0.37625	0.1010	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;P	0.87578	0.899;0.998;0.891	T	0.09185	-1.0686	10	0.59425	D	0.04	-21.9242	17.6737	0.88224	0.0:1.0:0.0:0.0	.	122;213;213	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	C	213;213;122;122;213;213;213	ENSP00000322885:R213C;ENSP00000305242:R213C;ENSP00000397648:R122C;ENSP00000390218:R213C;ENSP00000411986:R213C;ENSP00000392545:R213C	ENSP00000305242:R213C	R	+	1	0	AC005522.1	75950129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.638000	0.61353	2.434000	0.82447	0.561000	0.74099	CGC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			30	642	0	0	0	1	0	30	642					T	76112193	C	T	76112193	3	4	96	1	0	0	0	0	1	0	0	0	4810	652	23	1	643	1	DTX2	7	76112193	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	34094990	76112193	83026470	42	34332											
PION	54103	broad.mit.edu	37	chr7	77004376	77004376	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caacctatgaataacttactTaaatcctgagttgcttaatg	5	8	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:77004376T>C	ENST00000257626.7	-	11	862	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	262					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATAACTTACTTAAATCCTGAG	0.289																																						ENST00000257626.7																			0											c.e11+1		gamma-secretase activating protein							72	70	70					7																	77004376		2201	4299	6500	SO:0001630	splice_region_variant	54103							g.chr7:77004376T>C		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.785+1A>G	7.37:g.77004376T>C							p.K262_splice	NM_017439.3	NP_059135.2					11	862	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Splice_Site	SNP	ENST00000257626.7	37	c.785_splice	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056330	0.36277	.	.	ENSG00000186088	ENST00000257626	T	0.20738	2.05	5.73	4.57	0.56435	.	1.115770	0.06881	N	0.802583	T	0.18045	0.0433	L	0.29908	0.895	0.80722	D	1	B;B	0.17667	0.023;0.005	B;B	0.16722	0.016;0.004	T	0.03017	-1.1082	10	0.33940	T	0.23	.	8.604	0.33762	0.0:0.0871:0.0:0.9129	.	262;262	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	E	262	ENSP00000257626:K262E	ENSP00000257626:K262E	K	-	1	0	PION	76842312	1.000000	0.71417	0.998000	0.56505	0.625000	0.37756	2.244000	0.43124	0.995000	0.38917	0.460000	0.39030	AAA		0.289	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	Missense_Mutation	4	261	0	0	0	1	0	4	261					C	77004376	T	C	77004376	5	2	96	1	0	0	0	0	0	0	1	0	11976	1768	61	4	1864	4	PION	7	77004376	Splice_Site	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	892183	77004376	82134287	43	34333											
PHTF2	57157	broad.mit.edu	37	chr7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-													tgtctcttgtgtggattttcTtttttttgctctgtgtagca							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																						ENST00000416283.2																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						c.(1600-1602)ttfs		putative homeodomain transcription factor 2							155	145	148					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77569581delT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs					PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs	p.F535fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN			12	1726	+			569					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	ENST00000248550.7	37	c.1600delT																																																																																					0.303	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		7	654						7	654	---	---	---	---	-	77569581	T	-	77569581	7	5	96	1	0	1	0	1	0	0	0	0	11905	1609	56	0	1700	0	PHTF2	7	77569581	Frame_Shift_Del	DEL	T	TCGA-IB-AAUQ-01A-22D-A40W-08	565205	77569581	81569082	44	34334											
PCLO	27445	broad.mit.edu	37	chr7	82791717	82791717	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgcttcccttgggcagcccCtgcgcccttgacatgacagc	10	17	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:82791717C>T	ENST00000333891.9	-	1	529	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PCLO_ENST00000423517.2_Silent_p.Q64Q	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						TGGGCAGCCCCTGCGCCCTTG	0.632																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(190-192)caG>caA		piccolo presynaptic cytomatrix protein							19	24	23					7																	82791717		2108	4216	6324	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82791717C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.192G>A	7.37:g.82791717C>T						PCLO_ENST00000333891.8_Silent_p.Q64Q	p.Q64Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			1	529	-			64						Silent	SNP	ENST00000333891.9	37	c.192G>A	CCDS47630.1																																																																																				0.632	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	51	0	0	0	1	0	12	51					T	82791717	C	T	82791717	2	4	96	1	0	0	0	0	0	0	0	1	11625	680	24	2		2	PCLO	7	82791717	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	5222136	82791717	76346946	45	34335											
MUC17	140453	broad.mit.edu	37	chr7	100685064	100685064	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	aacctcaactactagtgaagGaagcactccattatcaatta	5	10	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:100685064G>C	ENST00000306151.4	+	3	10431	c.10367G>C	c.(10366-10368)gGa>gCa	p.G3456A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3456	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)					ACTAGTGAAGGAAGCACTCCA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10366-10368)gGa>gCa		mucin 17, cell surface associated							246	256	252					7																	100685064		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685064G>C	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.10367G>C	7.37:g.100685064G>C	ENSP00000302716:p.Gly3456Ala						p.G3456A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10431	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3456			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10367G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	6.640	0.486509	0.12641	.	.	ENSG00000169876	ENST00000306151	T	0.01838	4.61	1.29	-0.0886	0.13672	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.29822	-0.9999	9	0.05959	T	0.93	.	6.0054	0.19542	0.0:0.5593:0.4407:0.0	.	3456	Q685J3	MUC17_HUMAN	A	3456	ENSP00000302716:G3456A	ENSP00000302716:G3456A	G	+	2	0	MUC17	100471784	0.000000	0.05858	0.008000	0.14137	0.016000	0.09150	-3.212000	0.00555	0.661000	0.30985	0.186000	0.17326	GGA		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	1413	0	0	0	1	0	8	1413					C	100685064	G	C	100685064	3	2	96	1	0	0	0	0	1	0	0	0	10015	1174	41	5	10377	5	MUC17	7	100685064	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	17893347	100685064	58453599	46	34336											
CNTNAP2	26047	broad.mit.edu	37	chr7	147869372	147869372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcttcctgggctgcatcCgctccttgaggatgaatggg	15	10	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:147869372C>T	ENST00000361727.3	+	18	3328	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	938	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)			GGGCTGCATCCGCTCCTTGAG	0.542										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2812-2814)Cgc>Tgc		contactin associated protein-like 2							68	67	67					7																	147869372		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147869372C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2812C>T	7.37:g.147869372C>T	ENSP00000354778:p.Arg938Cys	HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_5'UTR	p.R938C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		18	3328	+	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)	938			Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2812C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536423	0.85812	.	.	ENSG00000174469	ENST00000361727	T	0.81163	-1.46	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95993	0.8987	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	938	Q9UHC6	CNTP2_HUMAN	C	938	ENSP00000354778:R938C	ENSP00000354778:R938C	R	+	1	0	CNTNAP2	147500305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.729000	0.62008	2.552000	0.86080	0.655000	0.94253	CGC		0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			57	233	0	0	0	1	0	57	233					T	147869372	C	T	147869372	3	4	96	1	0	0	0	0	1	0	0	0	3656	652	23	1	2882	1	CNTNAP2	7	147869372	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	47184308	147869372	11269291	47	34337											
KCNH2	3757	broad.mit.edu	37	chr7	150656796	150656796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgttcttcacgggcacCacatccaccagacataggaa	7	15	2	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:150656796C>T	ENST00000262186.5	-	3	737	c.336G>A	c.(334-336)gtG>gtA	p.V112V	KCNH2_ENST00000430723.3_Silent_p.V112V|KCNH2_ENST00000392968.2_Silent_p.V16V	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	112	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			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)	TCACGGGCACCACATCCACCA	0.582																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(46-48)gtG>gtA		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						157	117	130					7																	150656796		2203	4300	6503	SO:0001819	synonymous_variant	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150656796C>T	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.336G>A	7.37:g.150656796C>T						KCNH2_ENST00000262186.5_Silent_p.V112V|KCNH2_ENST00000430723.3_Silent_p.V112V	p.V16V			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	1168	-	all_neural(206;0.219)		112					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	c.48G>A	CCDS5910.1																																																																																				0.582	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		46	201	0	0	0	1	0	46	201					T	150656796	C	T	150656796	2	4	96	1	0	0	0	0	0	0	0	1	8062	581	21	2		2	KCNH2	7	150656796	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	2787424	150656796	8481867	48	34338											
RP1L1	94137	broad.mit.edu	37	chr8	10465022	10465022	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcctctggggcctctaTaccttctgactctggctggg	11	13	5	1	rs200407750		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:10465022T>C	ENST00000382483.3	-	4	6809	c.6586A>G	c.(6586-6588)Ata>Gta	p.I2196V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2276	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)		GGGGCCTCTATACCTTCTGAC	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6586-6588)Ata>Gta		retinitis pigmentosa 1-like 1							158	172	168					8																	10465022		1877	4104	5981	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465022T>C	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.6586A>G	8.37:g.10465022T>C	ENSP00000371923:p.Ile2196Val						p.I2196V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6809	-			2196					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6586A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152028	0.06585	.	.	ENSG00000183638	ENST00000382483	T	0.07444	3.19	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	9	0.28530	T	0.3	.	8.8709	0.35316	0.0:0.4591:0.0:0.5409	.	2196	A6NKC6	.	V	2196	ENSP00000371923:I2196V	ENSP00000371923:I2196V	I	-	1	0	RP1L1	10502432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-0.995000	0.03459	-0.375000	0.07067	ATA		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	976	0	0	0	1	0	7	976					C	10465022	T	C	10465022	3	2	96	1	0	0	0	0	1	0	0	0	13583	1406	49	4	620	4	RP1L1	8	10465022	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08		10465022	135899000	49	34339											
ESCO2	157570	broad.mit.edu	37	chr8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A													tgatgtagagactgtcagtgINSaaaaaaaaacttttgcgaca					rs80359854|rs80359853		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					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)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				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	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	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.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		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)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		10	291						10	291	---	---	---	---	A	27634577	-	A	27634576	7	5	96	1	0	1	1	0	0	0	0	0	5267	1291	45	0	757	0	ESCO2	8	27634576	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	17169554	27634576	118729446	50	34340											
CSPP1	79848	broad.mit.edu	37	chr8	67998296	67998296	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agactatgaacggaagaaacAtaaattaaaagaagaattgc	8	4	0	5	rs370605967		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:67998296A>T	ENST00000262210.5	+	4	393	c.362A>T	c.(361-363)cAt>cTt	p.H121L	CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000519963.1_5'Flank	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	121					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)			CGGAAGAAACATAAATTAAAA	0.313																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(361-363)cAt>cTt		centrosome and spindle pole associated protein 1							125	120	122					8																	67998296		1816	4064	5880	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:67998296A>T	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.362A>T	8.37:g.67998296A>T	ENSP00000262210:p.His121Leu					CSPP1_ENST00000412460.1_5'UTR	p.H121L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		4	393	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	121					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.362A>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.818020	0.32145	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	T;T	0.64618	-0.11;1.4	5.6	4.45	0.53987	.	0.267871	0.17979	U	0.155585	T	0.46889	0.1416	L	0.33485	1.01	0.80722	D	1	B;B;B	0.26258	0.019;0.145;0.145	B;B;B	0.22753	0.007;0.041;0.041	T	0.48103	-0.9064	10	0.46703	T	0.11	-18.2211	6.2761	0.20981	0.7839:0.0:0.0742:0.1419	.	121;121;121	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	L	85;121;121	ENSP00000429546:H85L;ENSP00000262210:H121L	ENSP00000262210:H121L	H	+	2	0	CSPP1	68160850	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	3.322000	0.52007	2.127000	0.65507	0.477000	0.44152	CAT		0.313	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		74	447	0	0	0	1	0	74	447					T	67998296	A	T	67998296	3	4	96	1	0	0	0	0	1	0	0	0	3973	217	8	5	376	5	CSPP1	8	67998296	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08	40363720	67998296	78365726	51	34341											
KCNB2	9312	broad.mit.edu	37	chr8	73848876	73848876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttacaaggagcagaaacGccaagagaaagcaattaaaa	9	6	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:73848876G>A	ENST00000523207.1	+	3	1874	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GAGCAGAAACGCCAAGAGAAA	0.443																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1285-1287)cGc>cAc		potassium voltage-gated channel, Shab-related subfamily, member 2							60	64	63					8																	73848876		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848876G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1286G>A	8.37:g.73848876G>A	ENSP00000430846:p.Arg429His						p.R429H	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1874	+	Breast(64;0.137)		429					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1286G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405528	0.83230	.	.	ENSG00000182674	ENST00000523207	D	0.97553	-4.43	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000294	D	0.98264	0.9425	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99174	1.0865	10	0.87932	D	0	.	19.6254	0.95676	0.0:0.0:1.0:0.0	.	429	Q92953	KCNB2_HUMAN	H	429	ENSP00000430846:R429H	ENSP00000430846:R429H	R	+	2	0	KCNB2	74011430	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.633000	0.89246	0.563000	0.77884	CGC		0.443	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		40	262	0	0	0	1	0	40	262					A	73848876	G	A	73848876	3	1	96	1	0	0	0	0	1	0	0	0	8043	1087	38	1	1292	1	KCNB2	8	73848876	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	5850580	73848876	72515146	52	34342											
PYCRL	65263	broad.mit.edu	37	chr8	144688047	144688047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgcagcagcatcttggcCgtcccctgaggagagcgtta	13	12	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:144688047C>T	ENST00000220966.6	-	6	713	c.684G>A	c.(682-684)acG>acA	p.T228T	PYCRL_ENST00000377579.3_Silent_p.T79T|PYCRL_ENST00000495276.1_5'UTR|RP11-661A12.14_ENST00000606452.1_lincRNA	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	216					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)	GCATCTTGGCCGTCCCCTGAG	0.687																																						ENST00000220966.6																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(682-684)acG>acA		pyrroline-5-carboxylate reductase-like							66	61	63					8																	144688047		2203	4299	6502	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144688047C>T	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.684G>A	8.37:g.144688047C>T						PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.T79T	p.T228T	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	713	-	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)		216					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.684G>A	CCDS6407.2																																																																																				0.687	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		30	209	0	0	0	1	0	30	209					T	144688047	C	T	144688047	2	4	96	1	0	0	0	0	0	0	0	1	12907	639	23	1		1	PYCRL	8	144688047	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	70839171	144688047	1675975	53	34343											
SMARCA2	6595	broad.mit.edu	37	chr9	2054681	2054681	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatttaagaaccaaagcaacCgtggaactaaaagcacttcg	8	9	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:2054681C>T	ENST00000382203.1	+	6	1340	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	SMARCA2_ENST00000357248.2_Silent_p.T377T|SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	377					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)		CCAAAGCAACCGTGGAACTAA	0.403																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1129-1131)acC>acT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							103	107	106					9																	2054681		2203	4300	6503	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2054681C>T	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.1131C>T	9.37:g.2054681C>T						SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T	p.T377T			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1340	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	377					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.1131C>T	CCDS34977.1																																																																																				0.403	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		70	397	0	0	0	1	0	70	397					T	2054681	C	T	2054681	2	4	96	1	0	0	0	0	0	0	0	1	14819	639	23	1		1	SMARCA2	9	2054681	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		2054681	139158750	54	34344											
KIF24	347240	broad.mit.edu	37	chr9	34257622	34257623	+	Frame_Shift_Ins	INS	-	-	T													atggtgctgactcttctggcINSttttttttggccacatgtcc					rs570788521	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:34257622_34257623insT	ENST00000402558.2	-	10	2006_2007	c.1982_1983insA	c.(1981-1983)aagfs	p.K661fs	KIF24_ENST00000379174.3_Frame_Shift_Ins_p.K527fs|KIF24_ENST00000379166.2_Frame_Shift_Ins_p.K661fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.K527fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	661					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)	p.K143fs*34(1)|p.K661fs*34(1)		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)			ACTCTTCTGGCTTTTTTTTGGC	0.53																																						ENST00000379166.2																			2	Deletion - Frameshift(2)	p.K143fs*34(1)|p.K661fs*34(1)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1981-1983)accfs		kinesin family member 24																																				SO:0001589	frameshift_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257622_34257623insT	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.1983dupA	9.37:g.34257630_34257630dupT	ENSP00000384433:p.Lys661fs					KIF24_ENST00000379174.3_Frame_Shift_Ins_p.T527fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.T527fs|KIF24_ENST00000402558.2_Frame_Shift_Ins_p.T661fs	p.T661fs	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	2101_2102	-			661					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	ENST00000402558.2	37	c.1982_1983insA	CCDS6551.2																																																																																				0.53	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			7	351						7	351	---	---	---	---	T	34257623	-	T	34257622	7	5	96	1	0	1	1	0	0	0	0	0	8322	796	28	0	2135	0	KIF24	9	34257622	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	32202941	34257622	106955809	55	34345											
GBA2	57704	broad.mit.edu	37	chr9	35738753	35738753	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcatcccttactagaCacacaggccacatgtccttc	6	15	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:35738753C>T	ENST00000378103.3	-	12	2466	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.C648Y|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	648					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)			CCTTACTAGACACACAGGCCA	0.522																																						ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(1942-1944)tGt>tAt		glucosidase, beta (bile acid) 2							119	114	116					9																	35738753		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35738753C>T	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.1943G>A	9.37:g.35738753C>T	ENSP00000367343:p.Cys648Tyr					GBA2_ENST00000378103.3_Missense_Mutation_p.C648Y|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y|GBA2_ENST00000467252.1_5'UTR	p.C648Y			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		12	2456	-	all_epithelial(49;0.167)		648					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.1943G>A	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850912	0.71719	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	6.08	5.18	0.71444	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	M	0.78049	2.395	0.80722	D	1	B;D;B	0.71674	0.202;0.998;0.241	B;D;B	0.67548	0.097;0.952;0.157	T	0.81068	-0.1100	9	0.87932	D	0	-15.2752	13.4627	0.61235	0.0:0.9284:0.0:0.0716	.	654;648;648	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	Y	648;648;654	.	ENSP00000367334:C648Y	C	-	2	0	GBA2	35728753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	1.590000	0.49995	0.655000	0.94253	TGT		0.522	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		25	281	0	0	0	1	0	25	281					T	35738753	C	T	35738753	3	4	96	1	0	0	0	0	1	0	0	0	6295	478	17	2	864	2	GBA2	9	35738753	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	1481131	35738753	105474678	56	34346											
PAPPA	5069	broad.mit.edu	37	chr9	119106961	119106961	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctacgtgctccagataCggcgggatgatgagctgatc	14	10	0	4	rs202058403		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:119106961C>T	ENST00000328252.3	+	14	4120	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1251	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						GCTCCAGATACGGCGGGATGA	0.577																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3751-3753)Cgg>Tgg		pregnancy-associated plasma protein A, pappalysin 1							74	62	66					9																	119106961		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119106961C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3751C>T	9.37:g.119106961C>T	ENSP00000330658:p.Arg1251Trp					PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	p.R1251W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			14	4120	+			1251			Sushi 1.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3751C>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965637	0.74131	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.77098	-1.07;-1.07	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (2);	0.387664	0.31554	N	0.007450	T	0.64560	0.2609	N	0.14661	0.345	0.36488	D	0.868287	P;D	0.53151	0.927;0.958	B;B	0.39152	0.292;0.255	T	0.73639	-0.3919	10	0.46703	T	0.11	-8.643	19.4472	0.94852	0.0:1.0:0.0:0.0	.	289;1251	F5GZ19;Q13219	.;PAPP1_HUMAN	W	1251;289	ENSP00000330658:R1251W;ENSP00000441461:R289W	ENSP00000330658:R1251W	R	+	1	2	PAPPA	118146782	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.982000	0.76173	2.669000	0.90835	0.655000	0.94253	CGG		0.577	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		19	152	0	0	0	1	0	19	152					T	119106961	C	T	119106961	3	4	96	1	0	0	0	0	1	0	0	0	11474	527	19	1	3805	1	PAPPA	9	119106961	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	83368208	119106961	22106470	57	34347											
ODF2	4957	broad.mit.edu	37	chr9	131246280	131246280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgcgtgggcatttgcagGcacagcttcggtccaaagag	13	11	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:131246280G>A	ENST00000434106.3	+	11	1414	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000393527.3_Missense_Mutation_p.A327T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	351					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)	p.A327T(1)|p.A351T(1)|p.A395T(1)		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						GCATTTGCAGGCACAGCTTCG	0.532																																						ENST00000303890.5																			3	Substitution - Missense(3)	p.A327T(1)|p.A351T(1)|p.A395T(1)	endometrium(3)	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						c.(979-981)Gca>Aca		outer dense fiber of sperm tails 2							112	103	106					9																	131246280		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131246280G>A	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.1051G>A	9.37:g.131246280G>A	ENSP00000403453:p.Ala351Thr					ODF2_ENST00000372796.4_Missense_Mutation_p.A351T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000434106.2_Missense_Mutation_p.A351T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T	p.A327T	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN			13	1564	+			351					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.979G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263551	0.39995	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.91;1.0;1.0;1.0	5.8	4.72	0.59763	.	0.339216	0.32287	N	0.006313	T	0.24236	0.0587	N	0.12182	0.205	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.11235	0.001;0.001;0.002;0.001;0.004;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.09377	0.001;0.004;0.003;0.003;0.004;0.004;0.004;0.002;0.004;0.004	T	0.06917	-1.0800	10	0.12430	T	0.62	-13.1102	14.4896	0.67642	0.084:0.0:0.916:0.0	.	332;346;270;285;351;395;346;332;351;327	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-7;B1AND4;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;.;.;ODFP2_HUMAN;.	T	351;395;346;351;327;270;332;332	ENSP00000377166:A351T;ENSP00000361901:A395T;ENSP00000342581:A346T;ENSP00000361882:A351T;ENSP00000307781:A327T;ENSP00000396687:A270T;ENSP00000437579:A332T;ENSP00000361877:A332T	ENSP00000307781:A327T	A	+	1	0	ODF2	130286101	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.174000	0.58256	2.749000	0.94314	0.655000	0.94253	GCA		0.532	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			5	365	0	0	0	1	0	5	365					A	131246280	G	A	131246280	3	1	96	1	0	0	0	0	1	0	0	0	10869	1203	42	2	1144	2	ODF2	9	131246280	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	12139319	131246280	9967151	58	34348											
SURF2	6835	broad.mit.edu	37	chr9	136227975	136227975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagttcaagagtcatcaccGcaaacccaagagcttcagct	8	12	4	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:136227975G>A	ENST00000371964.4	+	6	772	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SURF4_ENST00000467910.1_5'Flank	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	244						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTCATCACCGCAAACCCAAG	0.463																																						ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(730-732)cGc>cAc		surfeit 2							166	169	168					9																	136227975		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136227975G>A		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.731G>A	9.37:g.136227975G>A	ENSP00000361032:p.Arg244His						p.R244H	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	6	772	+			244					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.731G>A	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	G	0.927	-0.713895	0.03206	.	.	ENSG00000148291	ENST00000371964	T	0.29917	1.55	5.15	0.0952	0.14484	.	0.911277	0.09659	N	0.772669	T	0.18173	0.0436	N	0.22421	0.69	0.09310	N	1	B	0.18310	0.027	B	0.17722	0.019	T	0.35674	-0.9779	10	0.12103	T	0.63	-18.6517	9.3417	0.38085	0.4709:0.0:0.5291:0.0	.	244	Q15527	SURF2_HUMAN	H	244	ENSP00000361032:R244H	ENSP00000361032:R244H	R	+	2	0	SURF2	135217796	0.001000	0.12720	0.000000	0.03702	0.095000	0.18619	0.233000	0.17911	-0.274000	0.09232	0.561000	0.74099	CGC		0.463	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		6	930	0	0	0	1	0	6	930					A	136227975	G	A	136227975	3	1	96	1	0	0	0	0	1	0	0	0	15456	1087	38	1	753	1	SURF2	9	136227975	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	4981695	136227975	4985456	59	34349											
KIAA0649	9858	broad.mit.edu	37	chr9	138377977	138377977	+	Frame_Shift_Del	DEL	T	T	-													tcgagcaggaaatccggacaTttttggccctaaaggcgcag							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:138377977delT	ENST00000356818.2	+	4	2170	c.1621delT	c.(1621-1623)tttfs	p.F541fs	PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.F541fs	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	541					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										AATCCGGACATTTTTGGCCCT	0.617																																						ENST00000356818.2																			0											c.(1621-1623)ttfs		protein phosphatase 1, regulatory subunit 26							102	106	104					9																	138377977		2203	4299	6502	SO:0001589	frameshift_variant	9858					nucleolus	protein binding	g.chr9:138377977delT	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.1621delT	9.37:g.138377977delT	ENSP00000349274:p.Phe541fs					PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000602993.1_Intron	p.F541fs	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	2170	+			541					Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	ENST00000356818.2	37	c.1621delT	CCDS6988.1																																																																																				0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		7	848						7	848	---	---	---	---	-	138377977	T	-	138377977	7	5	96	1	0	1	0	1	0	0	0	0	8217	1493	52	0	1623	0	KIAA0649	9	138377977	Frame_Shift_Del	DEL	T	TCGA-IB-AAUQ-01A-22D-A40W-08	2150002	138377977	2835454	60	34350											
TUBB8	347688	broad.mit.edu	37	chr10	93797	93797	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgttgtagggctccaccaCggtgtccgacaccttgggcg	15	13	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:93797C>T	ENST00000309812.4	-	4	597	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	TUBB8_ENST00000447903.2_Missense_Mutation_p.V107M|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	179					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCTCCACCACGGTGTCCGAC	0.522																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(319-321)Gtg>Atg		tubulin, beta 8 class VIII																																				SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93797C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.535G>A	10.37:g.93797C>T	ENSP00000311042:p.Val179Met					TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V179M|TUBB8_ENST00000413237.3_5'UTR	p.V107M			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	634	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	179					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.319G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941317	0.34283	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71222	-0.55	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.51477	U	0.000086	D	0.85080	0.5615	H	0.96489	3.83	0.34080	D	0.659493	P;D	0.89917	0.478;1.0	B;D	0.69479	0.038;0.964	D	0.85106	0.0960	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	142;179	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	M	107;145;142;179	ENSP00000403895:V107M	ENSP00000272035:V145M	V	-	1	0	RP11-631M21.2	83797	0.998000	0.40836	0.272000	0.24630	0.274000	0.26718	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GTG		0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		5	504	0	0	0	1	0	5	504					T	93797	C	T	93797	3	4	96	1	0	0	0	0	1	0	0	0	16815	536	19	1	803	1	TUBB8	10	93797	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		93797	135440950	61	34351											
ZNF438	220929	broad.mit.edu	37	chr10	31137813	31137813	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgcagacgtgacatctGtgccaaggcttcttaatgcc	11	10	2	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:31137813G>A	ENST00000361310.3	-	6	1850	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000452305.1_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	507					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)				CGTGACATCTGTGCCAAGGCT	0.483																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1372-1374)caC>caT		zinc finger protein 438							183	183	183					10																	31137813		2203	4300	6503	SO:0001819	synonymous_variant	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137813G>A	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.1521C>T	10.37:g.31137813G>A						ZNF438_ENST00000361310.3_Silent_p.H507H|ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000452305.1_Silent_p.H497H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000331737.6_Silent_p.H497H	p.H458H	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	2128	-		Prostate(175;0.0587)	507					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	ENST00000361310.3	37	c.1374C>T	CCDS7168.1																																																																																				0.483	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		9	786	0	0	0	1	0	9	786					A	31137813	G	A	31137813	2	1	96	1	0	0	0	0	0	0	0	1	17963	1368	48	2		2	ZNF438	10	31137813	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	31044016	31137813	104396934	62	34352											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		16	923						16	923	---	---	---	---	-	81070789	CTC	-	81070787	7	5	96	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-IB-AAUQ-01A-22D-A40W-08	49932974	81070787	54463960	63	34353											
SLIT1	6585	broad.mit.edu	37	chr10	98799862	98799862	+	Frame_Shift_Del	DEL	C	C	-													actgtgggcggggcaggcagCccccctcctcctggcctagg							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:98799862delC	ENST00000266058.4	-	21	2425	c.2180delG	c.(2179-2181)ggcfs	p.G727fs	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Del_p.G727fs	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	727	LRRNT 4.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G727fs*65(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGCAGGCAGCCCCCCTCCTC	0.697																																						ENST00000266058.4																			1	Deletion - Frameshift(1)	p.G727fs*65(1)	large_intestine(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(2179-2181)gcfs		slit homolog 1 (Drosophila)							25	25	25					10																	98799862		2202	4300	6502	SO:0001589	frameshift_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98799862delC	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2180delG	10.37:g.98799862delC	ENSP00000266058:p.Gly727fs					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Del_p.G727fs	p.G727fs	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	21	2425	-		Colorectal(252;0.162)	727			LRRNT 4.		Q5T0V1|Q8WWZ2|Q9UIL7	Frame_Shift_Del	DEL	ENST00000266058.4	37	c.2180delG	CCDS7453.1																																																																																				0.697	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		13	66						13	66	---	---	---	---	-	98799862	C	-	98799862	7	5	96	1	0	1	0	1	0	0	0	0	14789	739	26	0	2492	0	SLIT1	10	98799862	Frame_Shift_Del	DEL	C	TCGA-IB-AAUQ-01A-22D-A40W-08	17729075	98799862	36734885	64	34354											
TRUB1	142940	broad.mit.edu	37	chr10	116698211	116698211	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctttggctaccaagctgctgTccttgagcggcgtgttcgcc	12	13	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:116698211T>C	ENST00000298746.3	+	1	260	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	67					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAGCTGCTGTCCTTGAGCGG	0.662																																						ENST00000298746.3																			0				breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12						c.(199-201)Tcc>Ccc		TruB pseudouridine (psi) synthase family member 1							13	13	13					10																	116698211		2198	4299	6497	SO:0001583	missense	142940				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr10:116698211T>C	AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.199T>C	10.37:g.116698211T>C	ENSP00000298746:p.Ser67Pro					TRUB1_ENST00000485065.1_3'UTR	p.S67P	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN		Epithelial(162;0.00879)|all cancers(201;0.0243)	1	260	+		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)	67					B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	c.199T>C	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863849	0.71949	.	.	ENSG00000165832	ENST00000298746	T	0.43688	0.94	6.17	6.17	0.99709	Pseudouridine synthase, catalytic domain (1);	0.053893	0.85682	D	0.000000	T	0.60843	0.2300	M	0.61703	1.905	0.54753	D	0.99998	D	0.71674	0.998	D	0.78314	0.991	T	0.58165	-0.7684	10	0.35671	T	0.21	-12.9692	14.3455	0.66658	0.0:0.0:0.0:1.0	.	67	Q8WWH5	TRUB1_HUMAN	P	67	ENSP00000298746:S67P	ENSP00000298746:S67P	S	+	1	0	TRUB1	116688201	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.299000	0.51826	2.371000	0.80710	0.533000	0.62120	TCC		0.662	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169		8	26	0	0	0	1	0	8	26					C	116698211	T	C	116698211	3	2	96	1	0	0	0	0	1	0	0	0	16655	1667	58	4	201	4	TRUB1	10	116698211	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	17898349	116698211	18836536	65	34355											
EIF3A	8661	broad.mit.edu	37	chr10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggtggtctgtcatcatccGcatgacgccagtttcccctg	10	13	3	1	rs372236521	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	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)		GTCATCATCCGCATGACGCCA	0.572													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17321	0.0		0.0	False		,,,				2504	0.0					ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3034-3036)gCg>gTg		eukaryotic translation initiation factor 3, subunit A		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	297	222	247		3035	0.5	0	10		247	0,8600		0,0,4300	no	missense	EIF3A	NM_003750.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	1012/1383	120801997	2,13004	2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801997G>A	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.3035C>T	10.37:g.120801997G>A	ENSP00000358140:p.Ala1012Val					EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V|EIF3A_ENST00000478852.1_Intron	p.A1012V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3162	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1012			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3035C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	0.916	-0.717526	0.03182	4.54E-4	0.0	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.24151	1.87;1.87	5.91	0.478	0.16789	.	1.821580	0.04002	N	0.296629	T	0.23133	0.0559	L	0.48642	1.525	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.0	T	0.21484	-1.0244	10	0.30078	T	0.28	0.1809	5.8168	0.18497	0.2967:0.3625:0.3408:0.0	.	978;1012	F5H335;Q14152	.;EIF3A_HUMAN	V	1012;978	ENSP00000358140:A1012V;ENSP00000438178:A978V	ENSP00000358140:A1012V	A	-	2	0	EIF3A	120791987	0.000000	0.05858	0.001000	0.08648	0.323000	0.28346	0.258000	0.18387	-0.167000	0.10871	-0.137000	0.14449	GCG		0.572	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		8	727	0	0	0	1	0	8	727					A	120801997	G	A	120801997	3	1	96	1	0	0	0	0	1	0	0	0	5028	1087	38	1	1129	1	EIF3A	10	120801997	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	4103786	120801997	14732750	66	34356											
OR5A1	219982	broad.mit.edu	37	chr11	59211157	59211157	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atatttaggcttcacttttgCggacccaacatcatcaacca	5	12	3	0	rs150991894	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:59211157C>T	ENST00000302030.2	+	1	541	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCACTTTTGCGGACCCAACA	0.547																																						ENST00000302030.2																			2	Substitution - coding silent(2)	p.C172C(2)	prostate(1)|endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(514-516)tgC>tgT		olfactory receptor, family 5, subfamily A, member 1		C		0,4402		0,0,2201	261	254	256		516	-5.9	0.4	11	dbSNP_134	256	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous	OR5A1	NM_001004728.1		0,3,6493	TT,TC,CC		0.0349,0.0,0.0231		172/316	59211157	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211157C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.516C>T	11.37:g.59211157C>T							p.C172C	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	541	+			172					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.516C>T	CCDS31561.1																																																																																				0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	1148	0	0	0	1	0	8	1148					T	59211157	C	T	59211157	2	4	96	1	0	0	0	0	0	0	0	1	11181	776	27	1		1	OR5A1	11	59211157	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		59211157	75795359	67	34357											
FADS3	3995	broad.mit.edu	37	chr11	61645989	61645989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctccccacccacctcgaCggatgactcccccaggagga	8	20	0	1	rs144099007		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:61645989C>T	ENST00000278829.2	-	5	894	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	FADS3_ENST00000527697.1_Missense_Mutation_p.V124I|FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000540820.1_Missense_Mutation_p.V248I	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	248					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						CCCACCTCGACGGATGACTCC	0.647																																						ENST00000540820.1																			0				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						c.(742-744)Gtc>Atc		fatty acid desaturase 3		C	ILE/VAL	0,4404		0,0,2202	94	91	92		742	0.5	0	11	dbSNP_134	92	1,8597		0,1,4298	no	missense	FADS3	NM_021727.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	248/446	61645989	1,13001	2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|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	g.chr11:61645989C>T		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.742G>A	11.37:g.61645989C>T	ENSP00000278829:p.Val248Ile					FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I|FADS3_ENST00000278829.2_Missense_Mutation_p.V248I	p.V248I			Q9Y5Q0	FADS3_HUMAN			5	814	-			248					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.742G>A	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872167	0.33069	0.0	1.16E-4	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.51	0.501	0.16925	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.52322	0.1727	L	0.47190	1.495	0.21579	N	0.99964	B;B	0.16166	0.004;0.016	B;B	0.23275	0.027;0.045	T	0.42865	-0.9426	9	0.36615	T	0.2	-10.6178	8.9265	0.35643	0.0:0.684:0.0:0.316	.	124;248	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	I	124;248;248;220;124;124	ENSP00000431533:V124I;ENSP00000278829:V248I;ENSP00000439308:V248I;ENSP00000432206:V220I;ENSP00000436890:V124I;ENSP00000434551:V124I	ENSP00000278829:V248I	V	-	1	0	FADS3	61402565	0.001000	0.12720	0.000000	0.03702	0.112000	0.19704	0.149000	0.16243	-0.099000	0.12263	-1.036000	0.02392	GTC		0.647	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1			61	380	0	0	0	1	0	61	380					T	61645989	C	T	61645989	3	4	96	1	0	0	0	0	1	0	0	0	5388	536	19	1	627	1	FADS3	11	61645989	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	2434832	61645989	73360527	68	34358											
MEN1	4221	broad.mit.edu	37	chr11	64572244	64572244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacggctcctcggcctcGgccgcctcggcctctcggct	11	22	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:64572244G>A	ENST00000337652.1	-	10	1913	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000478548.1_5'UTR|MAP4K2_ENST00000377350.3_5'Flank|MEN1_ENST00000315422.4_Silent_p.A465A|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000394374.2_Silent_p.A470A|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000377313.1_Silent_p.A470A|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000377326.3_Silent_p.A465A	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	470					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCTCGGCCTCGGCCGCCTCGG	0.726			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"D, Mis, N, F, S"	multiple endocrine neoplasia type 1 gene			E		"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"	"parathyroid tumors, Pancreatic neuroendocrine tumors"		0				NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CD021425	MEN1	D		c.(1408-1410)gcC>gcT		multiple endocrine neoplasia I							21	24	23					11																	64572244		1817	3779	5596	SO:0001819	synonymous_variant	0	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572244G>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"menin"	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1410C>T	11.37:g.64572244G>A						MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000394374.2_Silent_p.A470A|MEN1_ENST00000377313.1_Silent_p.A470A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000315422.4_Silent_p.A465A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000312049.6_Silent_p.A465A	p.A470A	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			10	1913	-			470					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000337652.1	37	c.1410C>T	CCDS8083.1																																																																																				0.726	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			27	174	0	0	0	1	0	27	174					A	64572244	G	A	64572244	2	1	96	1	0	0	0	0	0	0	0	1	9513	1103	39	1		1	MEN1	11	64572244	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2926255	64572244	70434272	69	34359											
ODZ4	26011	broad.mit.edu	37	chr11	78380090	78380090	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	actaaggtgcttccacagctCgtggtctgggctagtccagc	12	12	1	0	rs201676053		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:78380090C>T	ENST00000278550.7	-	32	7762	c.7300G>A	c.(7300-7302)Gag>Aag	p.E2434K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2434					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)										TTCCACAGCTCGTGGTCTGGG	0.517																																						ENST00000278550.7																			0											c.(7300-7302)Gag>Aag		teneurin transmembrane protein 4		C	LYS/GLU	1,4109		0,1,2054	113	112	113		7300	5.1	1	11		113	2,8366		0,2,4182	yes	missense	ODZ4	NM_001098816.2	56	0,3,6236	TT,TC,CC		0.0239,0.0243,0.024	benign	2434/2770	78380090	3,12475	2055	4184	6239	SO:0001583	missense	26011							g.chr11:78380090C>T	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.7300G>A	11.37:g.78380090C>T	ENSP00000278550:p.Glu2434Lys						p.E2434K	NM_001098816.2	NP_001092286.2					32	7762	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7300G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272619	0.59649	2.43E-4	2.39E-4	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89681	-2.55;0.91	5.14	5.14	0.70334	Rhs repeat-associated core (1);	0.158206	0.53938	D	0.000042	D	0.83257	0.5215	L	0.45581	1.43	0.54753	D	0.999985	P	0.36483	0.555	B	0.16289	0.015	T	0.82388	-0.0482	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2434	Q6N022	TEN4_HUMAN	K	2434;898	ENSP00000278550:E2434K;ENSP00000431711:E898K	.	E	-	1	0	ODZ4	78057738	0.976000	0.34144	0.988000	0.46212	0.972000	0.66771	3.189000	0.50965	2.677000	0.91161	0.655000	0.94253	GAG		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			13	160	0	0	0	1	0	13	160					T	78380090	C	T	78380090	3	4	96	1	0	0	0	0	1	0	0	0	10879	893	31	1	1021	1	ODZ4	11	78380090	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	13807846	78380090	56626426	70	34360											
DRD2	1813	broad.mit.edu	37	chr11	113295218	113295218	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagccatgcacaccagcacGttgccgaagacgatgacagc	10	14	0	2	rs201114741	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:113295218G>A	ENST00000362072.3	-	2	500	c.156C>T	c.(154-156)aaC>aaT	p.N52N	DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	52					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)	p.N52N(1)		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)	ACACCAGCACGTTGCCGAAGA	0.627													G|||	4	0.000798722	0.0	0.0	5008	,	,		21071	0.0		0.0	False		,,,				2504	0.0041					ENST00000362072.3																			1	Substitution - coding silent(1)	p.N52N(1)	stomach(1)	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						c.(154-156)aaC>aaT		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	G	,	0,4402		0,0,2201	246	185	206		156,156	0.3	1	11		206	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	DRD2	NM_000795.3,NM_016574.3	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	52/444,52/415	113295218	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295218G>A	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.156C>T	11.37:g.113295218G>A						DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000346454.3_Silent_p.N52N	p.N52N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		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)	2	500	-		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)	52					Q9NZR3|Q9UPA9	Silent	SNP	ENST00000362072.3	37	c.156C>T	CCDS8361.1																																																																																				0.627	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		32	283	0	0	0	1	0	32	283					A	113295218	G	A	113295218	2	1	96	1	0	0	0	0	0	0	0	1	4773	1136	40	1		1	DRD2	11	113295218	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	34915128	113295218	21711298	71	34361											
KLRC3	3823	broad.mit.edu	37	chr12	10568367	10568367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgtagcattgcacagttaCgttcagcatgatctgagtct	9	9	3	2	rs370768044		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:10568367C>T	ENST00000396439.2	-	6	658	c.614G>A	c.(613-615)cGt>cAt	p.R205H	KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3	205	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGCACAGTTACGTTCAGCATG	0.368																																						ENST00000396439.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(613-615)cGt>cAt		killer cell lectin-like receptor subfamily C, member 3		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	121	101	108		614,614	-5	0	12		108	0,8600		0,0,4300	no	missense,missense	KLRC3	NM_002261.2,NM_007333.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	205/241,205/258	10568367	1,13005	2203	4300	6503	SO:0001583	missense	3823							g.chr12:10568367C>T	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"Killer cell lectin-like receptors"	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.614G>A	12.37:g.10568367C>T	ENSP00000379716:p.Arg205His					NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H	p.R205H	NM_002261.2	NP_002252.2					6	658	-								Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.614G>A	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.260349	0.00262	2.27E-4	0.0	ENSG00000255641;ENSG00000205810;ENSG00000205810;ENSG00000205810	ENST00000539033;ENST00000396439;ENST00000381904;ENST00000381903	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	2.48	-4.97	0.03029	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	4.596900	0.00447	N	0.000091	T	0.02494	0.0076	N	0.02876	-0.465	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.40059	-0.9583	10	0.08381	T	0.77	.	6.9114	0.24336	0.1555:0.6313:0.0:0.2131	.	205;205;205	Q07444-2;F5H6K3;Q07444	.;.;NKG2E_HUMAN	H	205	ENSP00000437563:R205H;ENSP00000379716:R205H;ENSP00000371329:R205H;ENSP00000371328:R205H	ENSP00000371328:R205H	R	-	2	0	KLRC3;RP11-277P12.6	10459634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.576000	0.00910	-2.066000	0.00886	-1.486000	0.00981	CGT		0.368	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		29	210	0	0	0	1	0	29	210					T	10568367	C	T	10568367	3	4	96	1	0	0	0	0	1	0	0	0	8447	536	19	1	212	1	KLRC3	12	10568367	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		10568367	123283528	72	34362											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		23	185	0	0	0	1	0	23	185					T	25398284	C	T	25398284	3	4	96	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	14829917	25398284	108453611	73	34363											
PDZRN4	29951	broad.mit.edu	37	chr12	41966623	41966623	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaacattgagcttgagtgtcAgaatatcatgcaggctcaca	9	8	3	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:41966623A>C	ENST00000402685.2	+	10	2050	c.2042A>C	c.(2041-2043)cAg>cCg	p.Q681P	PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000298919.7_Missense_Mutation_p.Q421P	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	681							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)				CTTGAGTGTCAGAATATCATG	0.453																																						ENST00000298919.7																			0				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						c.(1261-1263)cAg>cCg		PDZ domain containing ring finger 4							101	92	95					12																	41966623		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966623A>C	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.2042A>C	12.37:g.41966623A>C	ENSP00000384197:p.Gln681Pro					PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000402685.2_Missense_Mutation_p.Q681P	p.Q421P			Q6ZMN7	PZRN4_HUMAN			10	1650	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	681			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1262A>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625622	0.46840	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72942	-0.7;3.77;3.77	4.49	4.49	0.54785	.	0.168540	0.41396	D	0.000898	T	0.80639	0.4661	L	0.56769	1.78	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.985	D;P;P	0.83275	0.996;0.905;0.905	T	0.80645	-0.1290	10	0.42905	T	0.14	-37.9358	14.4999	0.67714	1.0:0.0:0.0:0.0	.	681;421;423	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	P	681;423;421	ENSP00000384197:Q681P;ENSP00000439990:Q423P;ENSP00000298919:Q421P	ENSP00000298919:Q421P	Q	+	2	0	PDZRN4	40252890	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.146000	0.64845	1.987000	0.57996	0.528000	0.53228	CAG		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		32	240	0	0	0	1	0	32	240					C	41966623	A	C	41966623	3	2	96	1	0	0	0	0	1	0	0	0	11752	188	7	4	2153	4	PDZRN4	12	41966623	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08	16568339	41966623	91885272	74	34364											
KRT78	196374	broad.mit.edu	37	chr12	53242653	53242653	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctgcggccccttgagCgagcagaacaggctgagcga	14	14	0	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53242653C>T	ENST00000304620.4	-	1	125	c.62G>A	c.(61-63)cGc>cAc	p.R21H	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	21	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						GCCCCTTGAGCGAGCAGAACA	0.647																																						ENST00000304620.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(61-63)cGc>cAc		keratin 78							17	20	19					12																	53242653		2203	4299	6502	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242653C>T	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.62G>A	12.37:g.53242653C>T	ENSP00000306261:p.Arg21His						p.R21H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN			1	125	-			21			Gly-rich.|Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.62G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799620	0.31869	.	.	ENSG00000170423	ENST00000304620	T	0.75154	-0.91	5.14	-1.84	0.07809	.	.	.	.	.	T	0.64103	0.2568	M	0.69358	2.11	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.53669	-0.8406	9	0.46703	T	0.11	.	1.0871	0.01655	0.1385:0.3492:0.2054:0.3069	.	21	Q8N1N4	K2C78_HUMAN	H	21	ENSP00000306261:R21H	ENSP00000306261:R21H	R	-	2	0	KRT78	51528920	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.799000	0.04560	-0.602000	0.05775	0.485000	0.47835	CGC		0.647	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		13	103	0	0	0	1	0	13	103					T	53242653	C	T	53242653	3	4	96	1	0	0	0	0	1	0	0	0	8521	768	27	1	1536	1	KRT78	12	53242653	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	11276030	53242653	80609242	75	34365											
OR6C65	403282	broad.mit.edu	37	chr12	55794610	55794610	+	Frame_Shift_Del	DEL	T	T	-													atgcttccatggcccaagtaTtttttttaattcttttggga							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:55794610delT	ENST00000379665.2	+	1	397	c.298delT	c.(298-300)tttfs	p.F101fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCAAGTATTTTTTTTAAT	0.358																																						ENST00000379665.2																			1	Deletion - Frameshift(1)	p.L102fs*1(1)	large_intestine(1)	cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(298-300)ttfs		olfactory receptor, family 6, subfamily C, member 65							81	87	85					12																	55794610		2203	4300	6503	SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794610delT		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.298delT	12.37:g.55794610delT	ENSP00000368986:p.Phe101fs						p.F101fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	397	+			101					B2RNH9	Frame_Shift_Del	DEL	ENST00000379665.2	37	c.298delT	CCDS31821.1																																																																																				0.358	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			9	602						9	602	---	---	---	---	-	55794610	T	-	55794610	7	5	96	1	0	1	0	1	0	0	0	0	11237	1493	52	0	300	0	OR6C65	12	55794610	Frame_Shift_Del	DEL	T	TCGA-IB-AAUQ-01A-22D-A40W-08	2551957	55794610	78057285	76	34366											
RDH5	5959	broad.mit.edu	37	chr12	56118220	56118220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccccgaacccgctacagccCaggttgggatgccaagctgc	11	17	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:56118220C>A	ENST00000257895.5	+	5	1000	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	283					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.Y281fs*>29(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CGCTACAGCCCAGGTTGGGAT	0.632											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257895.5																			1	Deletion - Frameshift(1)	p.Y281fs*>29(1)	breast(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12						c.(847-849)cCa>cAa		retinol dehydrogenase 5 (11-cis/9-cis)	NADH(DB00157)|Vitamin A(DB00162)						124	112	116					12																	56118220		2203	4300	6503	SO:0001583	missense	5959				response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	g.chr12:56118220C>A	U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	9940	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 5"	601617	"retinol dehydrogenase 5 (11-cis and 9-cis)"	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.848C>A	12.37:g.56118220C>A	ENSP00000257895:p.Pro283Gln		OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q	p.P283Q	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN			5	1000	+			283					O00179|Q8TAI2	Missense_Mutation	SNP	ENST00000257895.5	37	c.848C>A	CCDS31829.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036463	0.93630	.	.	ENSG00000135437	ENST00000547072;ENST00000257895;ENST00000548082	D;D;D	0.87179	-2.22;-2.22;-2.22	4.92	4.92	0.64577	NAD(P)-binding domain (1);	0.121529	0.56097	D	0.000038	D	0.93171	0.7825	M	0.88450	2.955	0.45330	D	0.998329	D	0.58620	0.983	P	0.57960	0.83	D	0.94197	0.7446	10	0.62326	D	0.03	.	15.973	0.80034	0.0:1.0:0.0:0.0	.	283	Q92781	RDH1_HUMAN	Q	186;283;283	ENSP00000449927:P186Q;ENSP00000257895:P283Q;ENSP00000447128:P283Q	ENSP00000257895:P283Q	P	+	2	0	RDH5	54404487	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	6.045000	0.71020	2.449000	0.82847	0.561000	0.74099	CCA		0.632	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905		83	695	1	0	5.25376e-55	1	5.59714e-55	83	695					A	56118220	C	A	56118220	3	1	96	1	0	0	0	0	1	0	0	0	13245	594	21	3	862	3	RDH5	12	56118220	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	323610	56118220	77733675	77	34367											
DPY19L2	283417	broad.mit.edu	37	chr12	64041124	64041124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cattattcccatgaatgtgcAataccaggaggctatgatta	8	8	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:64041124A>G	ENST00000324472.4	-	5	793	c.610T>C	c.(610-612)Tgc>Cgc	p.C204R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	204					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGAATGTGCAATACCAGGAG	0.303																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(610-612)Tgc>Cgc		dpy-19-like 2 (C. elegans)							71	75	74					12																	64041124		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041124A>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.610T>C	12.37:g.64041124A>G	ENSP00000315988:p.Cys204Arg					RP11-415I12.3_ENST00000509615.2_RNA	p.C204R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	793	-			204					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.610T>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.080093	0.00035	.	.	ENSG00000177990	ENST00000324472	T	0.44482	0.92	2.35	1.43	0.22495	.	0.072625	0.53938	N	0.000041	T	0.23210	0.0561	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05241	-1.0897	8	.	.	.	.	5.3731	0.16150	0.1764:0.0:0.8236:0.0	.	204	Q6NUT2	D19L2_HUMAN	R	204	ENSP00000315988:C204R	.	C	-	1	0	DPY19L2	62327391	1.000000	0.71417	0.580000	0.28601	0.408000	0.30992	2.818000	0.48041	0.315000	0.23110	-1.392000	0.01152	TGC		0.303	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		7	506	0	0	0	1	0	7	506					G	64041124	A	G	64041124	3	3	96	1	0	0	0	0	1	0	0	0	4757	130	5	4	1738	4	DPY19L2	12	64041124	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08	7922904	64041124	69810771	78	34368											
OAS2	4939	broad.mit.edu	37	chr12	113442853	113442853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaacgagcggcacaaaatcGtcaaggaaatccatgaacag	9	9	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:113442853G>A	ENST00000342315.4	+	7	1508	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.V432I	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCACAAAATCGTCAAGGAAAT	0.507																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1294-1296)Gtc>Atc		2'-5'-oligoadenylate synthetase 2, 69/71kDa							82	76	78					12																	113442853		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113442853G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1294G>A	12.37:g.113442853G>A	ENSP00000342278:p.Val432Ile					OAS2_ENST00000342315.4_Missense_Mutation_p.V432I|RP1-71H24.1_ENST00000552784.1_RNA	p.V432I	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			7	1501	+			432			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1294G>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	0.660	-0.806221	0.02819	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.07021	3.23;3.23	4.11	-6.58	0.01836	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	1.058010	0.07534	N	0.912661	T	0.01387	0.0045	N	0.00303	-1.675	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.41538	-0.9503	10	0.02654	T	1	-21.0848	6.381	0.21533	0.2512:0.2993:0.4495:0.0	.	432;432	P29728;P29728-2	OAS2_HUMAN;.	I	432	ENSP00000342278:V432I;ENSP00000376362:V432I	ENSP00000342278:V432I	V	+	1	0	OAS2	111927236	0.018000	0.18449	0.000000	0.03702	0.006000	0.05464	0.038000	0.13862	-1.355000	0.02186	-0.312000	0.09012	GTC		0.507	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			23	141	0	0	0	1	0	23	141					A	113442853	G	A	113442853	3	1	96	1	0	0	0	0	1	0	0	0	10842	1145	40	1	1391	1	OAS2	12	113442853	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	49401729	113442853	20409042	79	34369											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa					rs188092231|rs369463367		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		7	646						7	646	---	---	---	---	-	121017156	CTC	-	121017154	7	5	96	1	0	1	0	1	0	0	0	0	12295	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-IB-AAUQ-01A-22D-A40W-08	7574301	121017154	12834741	80	34370											
GOLGA3	2802	broad.mit.edu	37	chr12	133353247	133353247	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgtagcccttccagTtccttcctgccctgctgctc	8	17	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:133353247T>C	ENST00000450791.2	-	20	4134	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000204726.3_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E			Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3949-3951)gaA>gaG		golgin A3							93	85	88					12																	133353247		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353247T>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3951A>G	12.37:g.133353247T>C						GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	21	4509	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1317			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3951A>G	CCDS9281.1																																																																																				0.567	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	347	0	0	0	1	0	6	347					C	133353247	T	C	133353247	2	2	96	1	0	0	0	0	0	0	0	1	6583	1722	60	4		4	GOLGA3	12	133353247	Silent	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	12336093	133353247	498648	81	34371											
TUBA3C	7278	broad.mit.edu	37	chr13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcattggtgatctcagccaCggacagctgctcgtggtagg	15	10	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'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)		ATCTCAGCCACGGACAGCTGC	0.607																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(862-864)Gtg>Atg		tubulin, alpha 3c							150	133	138					13																	19751261		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751261C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.862G>A	13.37:g.19751261C>T	ENSP00000382982:p.Val288Met						p.V288M	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	966	-		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)	288					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.862G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	10.38	1.334912	0.24253	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.88046	-2.33	1.19	1.19	0.21007	.	0.000000	0.42294	U	0.000740	D	0.88662	0.6497	.	.	.	0.41188	D	0.986281	.	.	.	.	.	.	D	0.87966	0.2733	7	0.87932	D	0	.	8.3297	0.32178	0.0:1.0:0.0:0.0	.	.	.	.	M	288	ENSP00000382982:V288M	ENSP00000354037:V288M	V	-	1	0	TUBA3C	18649261	1.000000	0.71417	0.985000	0.45067	0.516000	0.34256	6.295000	0.72744	0.972000	0.38314	0.175000	0.17021	GTG		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		77	619	0	0	0	1	0	77	619					T	19751261	C	T	19751261	3	4	96	1	0	0	0	0	1	0	0	0	16800	536	19	1	498	1	TUBA3C	13	19751261	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		19751261	95418617	82	34372											
FRY	10129	broad.mit.edu	37	chr13	32850630	32850630	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtggacttctggacaagctCaagttcagtgtgttagaact	11	7	3	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:32850630C>T	ENST00000380250.3	+	57	8812	c.8316C>T	c.(8314-8316)ctC>ctT	p.L2772L	FRY_ENST00000542859.1_Silent_p.L142L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2772						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)		TGGACAAGCTCAAGTTCAGTG	0.393																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(8314-8316)ctC>ctT		furry homolog (Drosophila)							179	159	165					13																	32850630		1881	4114	5995	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32850630C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8316C>T	13.37:g.32850630C>T						FRY_ENST00000542859.1_Silent_p.L142L	p.L2772L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	57	8812	+		Lung SC(185;0.0271)	2772					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.8316C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	9.396	1.076814	0.20227	.	.	ENSG00000073910	ENST00000380235	.	.	.	5.6	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	10.135	0.42701	0.2105:0.4488:0.3407:0.0	.	.	.	.	X	400	.	ENSP00000369567:Q400X	Q	+	1	0	FRY	31748630	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.111000	0.31159	1.343000	0.45638	0.555000	0.69702	CAA		0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		39	306	0	0	0	1	0	39	306					T	32850630	C	T	32850630	2	4	96	1	0	0	0	0	0	0	0	1	6090	813	29	2		2	FRY	13	32850630	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	13099369	32850630	82319248	83	34373											
FAM48A	55578	broad.mit.edu	37	chr13	37598272	37598274	+	In_Frame_Del	DEL	AGG	AGG	-													atacttgatggcttagaagaAggaggaggagttggagattt							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:37598272_37598274delAGG	ENST00000350612.6	-	19	1709_1711	c.1489_1491delCCT	c.(1489-1491)cctdel	p.P497del	SUPT20H_ENST00000542180.1_In_Frame_Del_p.P461del|SUPT20H_ENST00000464744.1_In_Frame_Del_p.P498del|SUPT20H_ENST00000360252.4_In_Frame_Del_p.P498del|SUPT20H_ENST00000475892.1_In_Frame_Del_p.P497del|SUPT20H_ENST00000356185.3_In_Frame_Del_p.P498del	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	497					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GCTTAGAAGAAGGAGGAGGAGTT	0.389																																						ENST00000360252.4																			0											c.(1492-1494)del		suppressor of Ty 20 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	55578							g.chr13:37598272_37598274delAGG	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.1489_1491delCCT	13.37:g.37598278_37598280delAGG	ENSP00000218894:p.Pro497del					SUPT20H_ENST00000475892.1_In_Frame_Del_p.P497del|SUPT20H_ENST00000350612.6_In_Frame_Del_p.P497del|SUPT20H_ENST00000356185.3_In_Frame_Del_p.P498del|SUPT20H_ENST00000464744.1_In_Frame_Del_p.P498del|SUPT20H_ENST00000542180.1_In_Frame_Del_p.P461del	p.P498del	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					19	1739_1741	-								E7ER46|Q71RF3|Q9Y6A6	In_Frame_Del	DEL	ENST00000350612.6	37	c.1492_1494delCCT	CCDS31959.1																																																																																				0.389	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		26	268						26	268	---	---	---	---	-	37598274	AGG	-	37598272	7	5	96	1	0	1	0	1	0	0	0	0	5597	59	3	0	880	0	FAM48A	13	37598272	In_Frame_Del	DEL	AGG	TCGA-IB-AAUQ-01A-22D-A40W-08	4747642	37598272	77571606	84	34374											
VPS36	51028	broad.mit.edu	37	chr13	53013235	53013235	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgctatacacagacttacctCttcccaattccagccgcctg	5	16	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:53013235C>G	ENST00000378060.4	-	3	261	c.234G>C	c.(232-234)aaG>aaC	p.K78N	VPS36_ENST00000480923.1_5'UTR	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)	78	GLUE N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00828}.				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)		AGACTTACCTCTTCCCAATTC	0.408																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(232-234)aaG>aaC		vacuolar protein sorting 36 homolog (S. cerevisiae)							100	89	93					13																	53013235		2203	4300	6503	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53013235C>G	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.234G>C	13.37:g.53013235C>G	ENSP00000367299:p.Lys78Asn					VPS36_ENST00000480923.1_5'UTR	p.K78N	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	3	261	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	78			GLUE N-terminal.		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.234G>C	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.65	2.895224	0.52121	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.14	3.1	0.35709	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.69823	2.125	0.80722	D	1	P	0.36392	0.551	B	0.42462	0.388	T	0.57590	-0.7785	9	0.49607	T	0.09	-0.4756	6.5062	0.22196	0.0:0.5215:0.0:0.4784	.	78	Q86VN1	VPS36_HUMAN	N	78	.	ENSP00000367299:K78N	K	-	3	2	VPS36	51911236	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	0.937000	0.28951	1.124000	0.41980	0.655000	0.94253	AAG		0.408	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			33	214	0	0	0	1	0	33	214					G	53013235	C	G	53013235	3	3	96	1	0	0	0	0	1	0	0	0	17258	912	32	5	974	5	VPS36	13	53013235	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	15414963	53013235	62156643	85	34375											
C13orf35	400165	broad.mit.edu	37	chr13	113333852	113333852	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaatcccgtgatgagccgccGatccgagctcaggctgcgtc	13	14	1	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:113333852G>A	ENST00000356049.1	+	2	917	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		53										breast(1)|lung(2)|ovary(1)|prostate(1)	5	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(43;0.201)			ATGAGCCGCCGATCCGAGCTC	0.607																																						ENST00000356049.1																			0				breast(1)|lung(2)|ovary(1)|prostate(1)	5						c.(157-159)ccG>ccA		chromosome 13 open reading frame 35							36	40	38					13																	113333852		2203	4300	6503	SO:0001819	synonymous_variant	400165							g.chr13:113333852G>A																												ENST00000356049.1:c.159G>A	13.37:g.113333852G>A							p.P53P	NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	all cancers(43;0.201)		2	917	+	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)		53						Silent	SNP	ENST00000356049.1	37	c.159G>A	CCDS9526.1																																																																																				0.607	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000126522.2			6	183	0	0	0	1	0	6	183					A	113333852	G	A	113333852	2	1	96	1	0	0	0	0	0	0	0	1	1734	1045	37	1		1	C13orf35	13	113333852	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	60320617	113333852	1836026	86	34376											
DLGAP5	9787	broad.mit.edu	37	chr14	55618581	55618581	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttagtattaatatcatctgCtactccaccagcaagaagag	7	9	2	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:55618581C>T	ENST00000247191.2	-	17	2416	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	734					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						ATATCATCTGCTACTCCACCA	0.358																																						ENST00000247191.2																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(2200-2202)Gca>Aca		discs, large (Drosophila) homolog-associated protein 5							91	85	87					14																	55618581		2203	4299	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55618581C>T	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.2200G>A	14.37:g.55618581C>T	ENSP00000247191:p.Ala734Thr					DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN			17	2416	-			734					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.2200G>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335122	0.24253	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.31510	1.49;1.49	4.08	0.0321	0.14174	.	1.039760	0.07679	N	0.936753	T	0.18215	0.0437	L	0.32530	0.975	0.09310	N	1	P;P	0.45126	0.851;0.851	B;B	0.37550	0.253;0.253	T	0.17930	-1.0353	10	0.66056	D	0.02	.	1.1514	0.01786	0.1548:0.4127:0.1513:0.2812	.	734;734	A8MTM6;Q15398	.;DLGP5_HUMAN	T	734	ENSP00000378815:A734T;ENSP00000247191:A734T	ENSP00000247191:A734T	A	-	1	0	DLGAP5	54688334	0.000000	0.05858	0.000000	0.03702	0.759000	0.43091	-1.321000	0.02697	-0.111000	0.12001	-0.857000	0.03018	GCA		0.358	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		24	221	0	0	0	1	0	24	221					T	55618581	C	T	55618581	3	4	96	1	0	0	0	0	1	0	0	0	4579	797	28	2	447	2	DLGAP5	14	55618581	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		55618581	51730959	87	34377											
DAAM1	23002	broad.mit.edu	37	chr14	59787235	59787237	+	In_Frame_Del	DEL	GAA	GAA	-													ctctgctggctttagagaagGaagaagaagaagaaagaagt					rs141935137		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:59787235_59787237delGAA	ENST00000395125.1	+	4	396_398	c.373_375delGAA	c.(373-375)gaadel	p.E129del	DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	129	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)		TTTAGAGAAGGAAGAAGAAGAAG	0.325																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(373-375)del		dishevelled associated activator of morphogenesis 1																																				SO:0001651	inframe_deletion	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59787235_59787237delGAA	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.373_375delGAA	14.37:g.59787244_59787246delGAA	ENSP00000378557:p.Glu129del					DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	4	396_398	+			129			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	ENST00000395125.1	37	c.373_375delGAA	CCDS9737.1																																																																																				0.325	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		9	400						9	400	---	---	---	---	-	59787237	GAA	-	59787235	7	5	96	1	0	1	0	1	0	0	0	0	4226	1175	41	0	387	0	DAAM1	14	59787235	In_Frame_Del	DEL	GAA	TCGA-IB-AAUQ-01A-22D-A40W-08	4168654	59787235	47562305	88	34378											
PCNX	22990	broad.mit.edu	37	chr14	71455320	71455320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcagtgtcatttcgccGtgaacgcagcacatttaggc	13	10	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:71455320G>A	ENST00000304743.2	+	7	2794	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.R783H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	783						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)		TCATTTCGCCGTGAACGCAGC	0.547																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(2347-2349)cGt>cAt		pecanex homolog (Drosophila)							138	116	124					14																	71455320		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71455320G>A	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.2348G>A	14.37:g.71455320G>A	ENSP00000304192:p.Arg783His					PCNX_ENST00000238570.5_Missense_Mutation_p.R783H|PCNX_ENST00000439984.3_Intron	p.R783H	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	7	2794	+			783					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2348G>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596374	0.86953	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.01059	5.39;5.39	5.01	5.01	0.66863	.	0.110787	0.64402	D	0.000008	T	0.05640	0.0148	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.47911	-0.9080	10	0.42905	T	0.14	.	18.8684	0.92303	0.0:0.0:1.0:0.0	.	783;783	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	H	783	ENSP00000304192:R783H;ENSP00000238570:R783H	ENSP00000238570:R783H	R	+	2	0	PCNX	70525073	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.203000	0.95033	2.767000	0.95098	0.591000	0.81541	CGT		0.547	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	529	0	0	0	1	0	5	529					A	71455320	G	A	71455320	3	1	96	1	0	0	0	0	1	0	0	0	11633	1145	40	1	2374	1	PCNX	14	71455320	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	11668085	71455320	35894220	89	34379											
ATG2B	55102	broad.mit.edu	37	chr14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T													ttcttgttctgagagtctaaINStttttttttcctgcgagaac							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					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)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	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.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		8	374						8	374	---	---	---	---	T	96783572	-	T	96783571	7	5	96	1	0	1	1	0	0	0	0	0	1095	98	4	0	3207	0	ATG2B	14	96783571	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	25328251	96783571	10565969	90	34380											
AHNAK2	113146	broad.mit.edu	37	chr14	105410162	105410162	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggccggcttcctcgggcaCgtggccctccaggagtttca	14	14	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:105410162C>T	ENST00000333244.5	-	7	11745	c.11626G>A	c.(11626-11628)Gtg>Atg	p.V3876M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3876						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)			TCCTCGGGCACGTGGCCCTCC	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11626-11628)Gtg>Atg		AHNAK nucleoprotein 2							132	140	137					14																	105410162		1938	4139	6077	SO:0001583	missense	113146					nucleus		g.chr14:105410162C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11626G>A	14.37:g.105410162C>T	ENSP00000353114:p.Val3876Met					AHNAK2_ENST00000557457.1_Intron	p.V3876M	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11745	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3876					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11626G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	11.79	1.742666	0.30865	.	.	ENSG00000185567	ENST00000333244	T	0.01059	5.39	3.98	-7.96	0.01144	.	.	.	.	.	T	0.01940	0.0061	L	0.39147	1.195	0.09310	N	1	D	0.76494	0.999	D	0.69654	0.965	T	0.05194	-1.0900	9	0.41790	T	0.15	.	1.2378	0.01957	0.1889:0.1829:0.3464:0.2818	.	3876	Q8IVF2	AHNK2_HUMAN	M	3876	ENSP00000353114:V3876M	ENSP00000353114:V3876M	V	-	1	0	AHNAK2	104481207	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.244000	0.02902	-2.031000	0.00928	-1.174000	0.01732	GTG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	913	0	0	0	1	0	7	913					T	105410162	C	T	105410162	3	4	96	1	0	0	0	0	1	0	0	0	415	536	19	1	5765	1	AHNAK2	14	105410162	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	8626591	105410162	1939378	91	34381											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		8	268						8	268	---	---	---	---	-	40328599	TGC	-	40328597	7	5	96	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-IB-AAUQ-01A-22D-A40W-08		40328597	62202795	92	34382											
C15orf52	388115	broad.mit.edu	37	chr15	40631781	40631782	+	Frame_Shift_Ins	INS	-	-	C													gctggtgtggtcacagccatINSccccccctgctctgcctgcc					rs199693415		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:40631781_40631782insC	ENST00000559313.1	-	3	309_310	c.294_295insG	c.(292-297)gggatgfs	p.M99fs	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	99							poly(A) RNA binding (GO:0044822)	p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTCACAGCCATCCCCCCCTGCT	0.649																																						ENST00000559313.1																			1	Deletion - Frameshift(1)	p.M99fs*3(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(292-297)ggtggcfs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40631781_40631782insC	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.295dupG	15.37:g.40631788_40631788dupC	ENSP00000453969:p.Met99fs						p.G99fs	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	3	309_310	-		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)	99					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.294_295insG	CCDS10055.2																																																																																				0.649	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		7	537						7	537	---	---	---	---	C	40631782	-	C	40631781	7	5	96	1	0	1	1	0	0	0	0	0	1805	1435	50	0	1345	0	C15orf52	15	40631781	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	303184	40631781	61899611	93	34383											
SPG11	80208	broad.mit.edu	37	chr15	44888457	44888457	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttattgcagacttgatcgcTgtccattttggaggtgggca	12	8	0	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:44888457T>A	ENST00000261866.7	-	25	4274	c.4258A>T	c.(4258-4260)Agc>Tgc	p.S1420C	SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1420					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)		ACTTGATCGCTGTCCATTTTG	0.473																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(4258-4260)Agc>Tgc		spastic paraplegia 11 (autosomal recessive)							115	116	116					15																	44888457		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44888457T>A		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.4258A>T	15.37:g.44888457T>A	ENSP00000261866:p.Ser1420Cys					SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C	p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	25	4274	-		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)	1420					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4258A>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270572	0.23221	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.79033	-1.23;-1.23;-1.23	4.93	-0.24	0.13047	.	0.760869	0.12223	N	0.488178	T	0.74129	0.3676	L	0.47716	1.5	0.09310	N	1	B;D;D	0.55800	0.001;0.959;0.973	B;P;P	0.51999	0.001;0.687;0.513	T	0.63453	-0.6634	10	0.62326	D	0.03	.	4.7879	0.13234	0.1363:0.2567:0.0:0.607	.	1420;1420;1420	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	C	1420	ENSP00000261866:S1420C;ENSP00000445278:S1420C;ENSP00000396110:S1420C	ENSP00000261866:S1420C	S	-	1	0	SPG11	42675749	0.001000	0.12720	0.000000	0.03702	0.012000	0.07955	0.796000	0.26986	0.033000	0.15463	-0.333000	0.08304	AGC		0.473	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			44	493	0	0	0	1	0	44	493					A	44888457	T	A	44888457	3	1	96	1	0	0	0	0	1	0	0	0	15093	1580	55	5	3137	5	SPG11	15	44888457	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	4256676	44888457	57642935	94	34384											
CYP1A2	1544	broad.mit.edu	37	chr15	75042757	75042757	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgaagaacactcatgagttCgtggagactgcctcctccgg	12	11	1	4			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:75042757C>T	ENST00000343932.4	+	2	741	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	226					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.F226F(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CTCATGAGTTCGTGGAGACTG	0.572																																						ENST00000343932.4																			2	Substitution - coding silent(2)	p.F226F(2)	upper_aerodigestive_tract(1)|endometrium(1)	breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(676-678)ttC>ttT		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						239	211	221					15																	75042757		2197	4296	6493	SO:0001819	synonymous_variant	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75042757C>T	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.678C>T	15.37:g.75042757C>T							p.F226F	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			2	741	+			226					Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	c.678C>T	CCDS32293.1																																																																																				0.572	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		102	634	0	0	0	1	0	102	634					T	75042757	C	T	75042757	2	4	96	1	0	0	0	0	0	0	0	1	4161	883	31	1		1	CYP1A2	15	75042757	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	30154300	75042757	27488635	95	34385											
C15orf58	390637	broad.mit.edu	37	chr15	90784172	90784172	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acatgattcaaacgaaacttCctatttgctgcctcccaaca	4	13	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:90784172C>A	ENST00000558017.1	+	4	452	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	11					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)										AACGAAACTTCCTATTTGCTG	0.453																																						ENST00000558017.1																			0											c.(31-33)tCc>tAc		GDP-D-glucose phosphorylase 1							93	95	94					15																	90784172		2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784172C>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 58"	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.32C>A	15.37:g.90784172C>A	ENSP00000452793:p.Ser11Tyr					GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y	p.S11Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	452	+			11						Missense_Mutation	SNP	ENST00000558017.1	37	c.32C>A	CCDS32327.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.310950	0.40895	.	.	ENSG00000183208	ENST00000329600	T	0.25912	1.77	5.22	4.3	0.51218	.	0.240656	0.27495	N	0.019109	T	0.27098	0.0664	M	0.63428	1.95	0.28415	N	0.917998	B	0.15141	0.012	B	0.18871	0.023	T	0.23833	-1.0177	10	0.87932	D	0	-6.4776	9.8228	0.40894	0.0:0.9068:0.0:0.0932	.	11	Q6ZNW5	VTC2_HUMAN	Y	11	ENSP00000368405:S11Y	ENSP00000368405:S11Y	S	+	2	0	C15orf58	88585176	0.556000	0.26538	0.920000	0.36463	0.327000	0.28475	0.968000	0.29357	1.419000	0.47118	0.563000	0.77884	TCC		0.453	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		53	392	1	0	4.44712e-29	1	4.70702e-29	53	392					A	90784172	C	A	90784172	3	1	96	1	0	0	0	0	1	0	0	0	1811	855	30	3	34	3	C15orf58	15	90784172	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	15741415	90784172	11747220	96	34386											
ZNF434	54925	broad.mit.edu	37	chr16	3434741	3434741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggcctctcctcactttgcGgtaactcaactgtaggcttt	8	13	3	0	rs375317994		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:3434741G>A	ENST00000396852.4	-	6	1259	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	318					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)										CTCACTTTGCGGTAACTCAAC	0.542																																						ENST00000396852.4																			0											c.(952-954)Cgc>Tgc		zinc finger and SCAN domain containing 32		G	CYS/ARG	0,4394		0,0,2197	161	166	164		316	-6.5	0	16		164	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF434	NM_017810.2	180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	106/486	3434741	1,12993	2197	4300	6497	SO:0001583	missense	54925							g.chr16:3434741G>A	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.952C>T	16.37:g.3434741G>A	ENSP00000380061:p.Arg318Cys					ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|LA16c-306E5.2_ENST00000575785.1_RNA	p.R318C							6	1259	-								B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.952C>T		.	.	.	.	.	.	.	.	.	.	G	13.66	2.303535	0.40795	0.0	1.16E-4	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	3.24	-6.48	0.01896	.	1.571550	0.05281	N	0.519475	T	0.70334	0.3212	M	0.93507	3.425	0.09310	N	1	D;B;B	0.89917	1.0;0.004;0.002	D;B;B	0.70016	0.967;0.002;0.002	T	0.70124	-0.4958	10	0.87932	D	0	.	6.9851	0.24723	0.5756:0.1299:0.2946:0.0	.	106;106;318	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	C	106;318;318;29;106	ENSP00000302502:R106C;ENSP00000380061:R318C;ENSP00000380057:R318C;ENSP00000391787:R29C;ENSP00000407312:R106C	ENSP00000302502:R106C	R	-	1	0	ZNF434	3374742	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.558000	0.00923	-1.622000	0.01560	-1.613000	0.00800	CGC		0.542	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		6	866	0	0	0	1	0	6	866					A	3434741	G	A	3434741	3	1	96	1	0	0	0	0	1	0	0	0	17961	1116	39	1	1149	1	ZNF434	16	3434741	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		3434741	86920012	97	34387											
TMC5	79838	broad.mit.edu	37	chr16	19498557	19498557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccgagcaaagcctggCgggcctcacagatgatgact	12	13	1	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:19498557C>T	ENST00000396229.2	+	17	3231	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	828					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R828W(1)|p.R582W(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						CAAAGCCTGGCGGGCCTCACA	0.567																																						ENST00000396229.2																			2	Substitution - Missense(2)	p.R828W(1)|p.R582W(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(2482-2484)Cgg>Tgg		transmembrane channel-like 5							73	67	69					16																	19498557		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19498557C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2482C>T	16.37:g.19498557C>T	ENSP00000379531:p.Arg828Trp					TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W	p.R828W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			17	3231	+			828					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2482C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187204	0.78789	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.72	3.68	0.42216	.	0.284410	0.37304	N	0.002141	D	0.85643	0.5744	M	0.92555	3.32	0.53005	D	0.99996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.999;0.999	D	0.85936	0.1455	10	0.87932	D	0	-21.0866	9.0624	0.36442	0.4067:0.4586:0.1346:0.0	.	776;511;582;582;828;828	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	W	776;828;828;828;582;511	ENSP00000441227:R776W;ENSP00000370822:R828W;ENSP00000379531:R828W;ENSP00000446274:R828W;ENSP00000219821:R582W	ENSP00000219821:R582W	R	+	1	2	TMC5	19406058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.706000	0.47135	0.699000	0.31761	0.655000	0.94253	CGG		0.567	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		36	223	0	0	0	1	0	36	223					T	19498557	C	T	19498557	3	4	96	1	0	0	0	0	1	0	0	0	16040	759	27	1	2854	1	TMC5	16	19498557	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	16063816	19498557	70856196	98	34388											
CACNG3	10368	broad.mit.edu	37	chr16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacacaacgtcattctcagcGcgggcatcttttttgtctct	8	12	4	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A138T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572																																						ENST00000005284.3																			1	Substitution - Missense(1)	p.A138T(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(412-414)Gcg>Acg		calcium channel, voltage-dependent, gamma subunit 3							58	53	55					16																	24366270		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366270G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.412G>A	16.37:g.24366270G>A	ENSP00000005284:p.Ala138Thr						p.A138T	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1614	+			138						Missense_Mutation	SNP	ENST00000005284.3	37	c.412G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	G	36	5.763234	0.96906	.	.	ENSG00000006116	ENST00000005284	D	0.89617	-2.54	5.41	5.41	0.78517	.	0.112679	0.64402	D	0.000015	D	0.91633	0.7356	M	0.82132	2.575	0.80722	D	1	P	0.51653	0.947	P	0.47827	0.558	D	0.91099	0.4913	10	0.39692	T	0.17	-12.7101	18.9864	0.92771	0.0:0.0:1.0:0.0	.	138	O60359	CCG3_HUMAN	T	138	ENSP00000005284:A138T	ENSP00000005284:A138T	A	+	1	0	CACNG3	24273771	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.961000	0.93122	2.815000	0.96918	0.561000	0.74099	GCG		0.572	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		38	201	0	0	0	1	0	38	201					A	24366270	G	A	24366270	3	1	96	1	0	0	0	0	1	0	0	0	2565	1087	38	1	422	1	CACNG3	16	24366270	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	4867713	24366270	65988483	99	34389											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	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						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				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						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	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.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		8	365						8	365	---	---	---	---	-	30982811	TCC	-	30982809	7	5	96	1	0	1	0	1	0	0	0	0	14180	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-IB-AAUQ-01A-22D-A40W-08	6616539	30982809	59371944	100	34390											
HYDIN	54768	broad.mit.edu	37	chr16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgatcttcttgggccGcacagactctccagcgcgaa	11	12	3	2	rs577654275	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													G|||	3	0.000599042	0.0	0.0	5008	,	,		18962	0.0		0.0	False		,,,				2504	0.0031					ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15208-15210)Cgg>Tgg		HYDIN, axonemal central pair apparatus protein							159	164	162					16																	70841641		2057	4196	6253	SO:0001583	missense	54768							g.chr16:70841641G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15208C>T	16.37:g.70841641G>A	ENSP00000377197:p.Arg5070Trp						p.R5070W	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.15208C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104288	0.56291	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00966	5.49	6.16	4.18	0.49190	.	0.373546	0.14700	U	0.303581	T	0.05640	0.0148	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.10337	-1.0634	10	0.72032	D	0.01	.	15.109	0.72340	0.0:0.0:0.7129:0.2871	.	5069	F8WD23	.	W	5070;5069	ENSP00000377197:R5070W	ENSP00000313052:R5069W	R	-	1	2	HYDIN	69399142	0.632000	0.27172	0.923000	0.36655	0.267000	0.26476	2.233000	0.43027	0.879000	0.35944	0.650000	0.86243	CGG		0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	402	0	0	0	1	0	5	402					A	70841641	G	A	70841641	3	1	96	1	0	0	0	0	1	0	0	0	7497	1086	38	1	161	1	HYDIN	16	70841641	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	39858832	70841641	19513112	101	34391											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	14	12	3	1	rs587780070		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	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	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	213	0	0	0	1	0	20	213					A	7578395	G	A	7578395	3	1	96	1	0	0	0	0	1	0	0	0	16434	1348	47	2	763	2	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		7578395	73616815	102	34392											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					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						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	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.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	338						8	338	---	---	---	---	-	8415822	TTC	-	8415820	7	5	96	1	0	1	0	1	0	0	0	0	10071	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-IB-AAUQ-01A-22D-A40W-08	837425	8415820	72779390	103	34393											
MLLT6	4302	broad.mit.edu	37	chr17	36873776	36873777	+	Frame_Shift_Ins	INS	-	-	C													tctcctccagcctcctggggINScccccagggacctcggccct							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:36873776_36873777insC	ENST00000325718.7	+	11	1834_1835	c.1743_1744insC	c.(1744-1746)cccfs	p.P582fs	CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	582					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCCTCCTGGGGCCCCCAGGGAC	0.653			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1741-1746)ggccccfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6																																				SO:0001589	frameshift_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36873776_36873777insC		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1748dupC	17.37:g.36873781_36873781dupC	ENSP00000316426:p.Pro582fs					CTB-58E17.9_ENST00000579499.1_RNA	p.GP581fs	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			11	1834_1835	+	Breast(7;4.43e-21)		581					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Frame_Shift_Ins	INS	ENST00000325718.7	37	c.1743_1744insC	CCDS11327.1																																																																																				0.653	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		7	332						7	332	---	---	---	---	C	36873777	-	C	36873776	7	5	96	1	0	1	1	0	0	0	0	0	9671	1190	42	0	1785	0	MLLT6	17	36873776	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	28457956	36873776	44321434	104	34394											
DUS3L	56931	broad.mit.edu	37	chr19	5789413	5789413	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gcgggtgtggggccctggctGaaccggcgcagggcctgctc	19	13	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:5789413G>C	ENST00000309061.7	-	3	801	c.705C>G	c.(703-705)ttC>ttG	p.F235L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	235							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.F235F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCCCTGGCTGAACCGGCGCA	0.726																																						ENST00000309061.7																			1	Substitution - coding silent(1)	p.F235F(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(703-705)ttC>ttG		dihydrouridine synthase 3-like (S. cerevisiae)							7	10	9					19																	5789413		2144	4183	6327	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5789413G>C		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.705C>G	19.37:g.5789413G>C	ENSP00000311977:p.Phe235Leu					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	p.F235L	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			3	801	-			235					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.705C>G	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	G	1.085	-0.665736	0.03428	.	.	ENSG00000141994	ENST00000309061	T	0.14266	2.52	4.53	-9.07	0.00724	.	0.376802	0.24143	N	0.041152	T	0.01387	0.0045	N	0.00382	-1.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35773	-0.9775	10	0.02654	T	1	-9.2867	0.113	0.00058	0.2789:0.1848:0.2504:0.2858	.	235	Q96G46	DUS3L_HUMAN	L	235	ENSP00000311977:F235L	ENSP00000311977:F235L	F	-	3	2	DUS3L	5740413	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.253000	0.00539	-2.940000	0.00297	-1.330000	0.01273	TTC		0.726	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		6	30	0	0	0	1	0	6	30					C	5789413	G	C	5789413	3	2	96	1	0	0	0	0	1	0	0	0	4823	1281	45	5	1291	5	DUS3L	19	5789413	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		5789413	53339570	105	34395											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		8	722	0	0	0	1	0	8	722					A	12575498	G	A	12575498	3	1	96	1	0	0	0	0	1	0	0	0	18166	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	6786085	12575498	46553485	106	34396											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941586	13941587	+	Frame_Shift_Ins	INS	-	-	C													cggtctgggccccttaggggINScacgccgggccgccaagcca							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:13941586_13941587insC	ENST00000254323.2	+	13	2881_2882	c.2692_2693insC	c.(2692-2694)gcafs	p.A898fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.A732fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	898							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)			CCCCTTAGGGGCACGCCGGGCC	0.693																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2692-2694)acgfs		zinc finger, SWIM-type containing 4																																				SO:0001589	frameshift_variant	65249						zinc ion binding	g.chr19:13941586_13941587insC	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.2693dupC	19.37:g.13941587_13941587dupC	ENSP00000254323:p.Ala898fs					ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs	p.T898fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2881_2882	+			898						Frame_Shift_Ins	INS	ENST00000254323.2	37	c.2692_2693insC	CCDS32924.1																																																																																				0.693	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		7	293						7	293	---	---	---	---	C	13941587	-	C	13941586	7	5	96	1	0	1	1	0	0	0	0	0	18296	1203	42	0	2742	0	ZSWIM4	19	13941586	Frame_Shift_Ins	INS	-	TCGA-IB-AAUQ-01A-22D-A40W-08	1366088	13941586	45187397	107	34397											
CCDC105	126402	broad.mit.edu	37	chr19	15121740	15121740	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggcgaggaccgcgcacattCtgaccgatcgctgcgggcag	15	13	1	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:15121740C>T	ENST00000292574.3	+	1	185	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	35						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGCACATTCTGACCGATCG	0.706																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(103-105)Ctg>Ttg		coiled-coil domain containing 105							14	14	14					19																	15121740		2170	4269	6439	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15121740C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.103C>T	19.37:g.15121740C>T							p.L35L	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			1	185	+			35					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.103C>T	CCDS12322.1																																																																																				0.706	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		3	38	0	0	0	1	0	3	38					T	15121740	C	T	15121740	2	4	96	1	0	0	0	0	0	0	0	1	2747	912	32	2		2	CCDC105	19	15121740	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	1180154	15121740	44007243	108	34398											
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	7	9	2	2	rs554981870		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	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	498					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)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60	62	61					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	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.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		8	470	0	0	0	1	0	8	470					G	24310294	T	G	24310294	3	3	96	1	0	0	0	0	1	0	0	0	17851	1435	50	4	1506	4	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	9188554	24310294	34818689	109	34399											
C19orf2	8725	broad.mit.edu	37	chr19	30500170	30500170	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacgacgacaacattgacgaCgatgatggtgataacgacca	11	9	0	3	rs183923805		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:30500170C>T	ENST00000542441.2	+	8	1242	c.945C>T	c.(943-945)gaC>gaT	p.D315D	URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000392271.1_Silent_p.D239D|URI1_ENST00000360605.4_Silent_p.D297D			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	315	Poly-Asp.			D -> E (in Ref. 3; BAF84859). {ECO:0000305}.	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)										acattgacgacgatgatggtg	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21154	0.0		0.0	False		,,,				2504	0.0					ENST00000392271.1																			0											c.(715-717)gaC>gaT		URI1, prefoldin-like chaperone							102	85	91					19																	30500170		2202	4300	6502	SO:0001819	synonymous_variant	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30500170C>T	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.945C>T	19.37:g.30500170C>T						URI1_ENST00000542441.2_Silent_p.D315D|URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000360605.4_Silent_p.D297D	p.D239D	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			8	1242	+			315					A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	c.717C>T	CCDS12420.1																																																																																				0.403	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		15	322	0	0	0	1	0	15	322					T	30500170	C	T	30500170	2	4	96	1	0	0	0	0	0	0	0	1	1918	535	19	1		1	C19orf2	19	30500170	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	6189876	30500170	28628813	110	34400											
NUDT19	390916	broad.mit.edu	37	chr19	33200189	33200190	+	Frame_Shift_Del	DEL	CT	CT	-													agaagacttgcaaactttgcCtctctctctgacttgcacaa							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:33200189_33200190delCT	ENST00000397061.3	+	2	813_814	c.813_814delCT	c.(811-816)gcctctfs	p.S272fs		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	272						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAACTTTGCCTCTCTCTCTGA	0.45																																						ENST00000397061.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(811-816)gcctfs		nudix (nucleoside diphosphate linked moiety X)-type motif 19																																				SO:0001589	frameshift_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33200189_33200190delCT		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"Nudix motif containing"	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.813_814delCT	19.37:g.33200197_33200198delCT	ENSP00000380251:p.Ser272fs						p.AS271fs	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN			2	813_814	+	Esophageal squamous(110;0.137)		271						Frame_Shift_Del	DEL	ENST00000397061.3	37	c.813_814delCT	CCDS42543.1																																																																																				0.45	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		7	941						7	941	---	---	---	---	-	33200190	CT	-	33200189	7	5	96	1	0	1	0	1	0	0	0	0	10778	668	24	0	819	0	NUDT19	19	33200189	Frame_Shift_Del	DEL	CT	TCGA-IB-AAUQ-01A-22D-A40W-08	2700019	33200189	25928794	111	34401											
UBA2	10054	broad.mit.edu	37	chr19	34922781	34922781	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggttgccaaggaaagtGtactgcagttttacccgaaa	10	9	0	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:34922781G>A	ENST00000246548.4	+	3	308	c.238G>A	c.(238-240)Gta>Ata	p.V80I	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	80					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAAGGAAAGTGTACTGCAGTT	0.368																																						ENST00000246548.4																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(238-240)Gta>Ata		ubiquitin-like modifier activating enzyme 2							203	196	199					19																	34922781		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34922781G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"Ubiquitin-like modifier activating enzymes"	30661	protein-coding gene	gene with protein product	"UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"	613295	"SUMO1 activating enzyme subunit 2"	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.238G>A	19.37:g.34922781G>A	ENSP00000246548:p.Val80Ile					UBA2_ENST00000439527.2_5'UTR	p.V80I	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		3	308	+	Esophageal squamous(110;0.162)		80					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.238G>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205694	0.58234	.	.	ENSG00000126261	ENST00000246548	T	0.26957	1.7	5.37	5.37	0.77165	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.115591	0.64402	D	0.000017	T	0.26629	0.0651	L	0.39566	1.225	0.80722	D	1	B	0.28128	0.201	B	0.31390	0.129	T	0.02909	-1.1095	10	0.38643	T	0.18	-18.4752	17.8794	0.88835	0.0:0.0:1.0:0.0	.	80	Q9UBT2	SAE2_HUMAN	I	80	ENSP00000246548:V80I	ENSP00000246548:V80I	V	+	1	0	UBA2	39614621	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	9.154000	0.94694	2.497000	0.84241	0.563000	0.77884	GTA		0.368	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		77	452	0	0	0	1	0	77	452					A	34922781	G	A	34922781	3	1	96	1	0	0	0	0	1	0	0	0	16882	1377	48	2	248	2	UBA2	19	34922781	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	1722592	34922781	24206202	112	34402											
ACTN4	81	broad.mit.edu	37	chr19	39207742	39207756	+	In_Frame_Del	DEL	GGCGCACCATCCCCT	GGCGCACCATCCCCT	-													acagctcctggagtggatccGgcgcaccatcccctggctgg					rs112545413|rs559700598|rs267605466|rs267605467	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:39207742_39207756delGGCGCACCATCCCCT	ENST00000252699.2	+	10	1005_1019	c.929_943delGGCGCACCATCCCCT	c.(928-945)cggcgcaccatcccctgg>cgg	p.RTIPW311del	ACTN4_ENST00000390009.3_In_Frame_Del_p.RTIPW92del|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	311					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)			GAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGA	0.647																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(928-945)cgg>c		actinin, alpha 4																																				SO:0001651	inframe_deletion	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39207742_39207756delGGCGCACCATCCCCT	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.929_943delGGCGCACCATCCCCT	19.37:g.39207742_39207756delGGCGCACCATCCCCT	ENSP00000252699:p.Arg311_Trp315del					ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_In_Frame_Del_p.RRTIPW91del	p.RRTIPW310del	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		10	1005_1019	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		310					A4K467|D6PXK4|O76048	In_Frame_Del	DEL	ENST00000252699.2	37	c.929_943delGGCGCACCATCCCCT	CCDS12518.1																																																																																				0.647	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			11	158						11	158	---	---	---	---	-	39207756	GGCGCACCATCCCCT	-	39207742	7	5	96	1	0	1	0	1	0	0	0	0	207	1116	39	0	967	0	ACTN4	19	39207742	In_Frame_Del	DEL	GGCGCACCATCCCCT	TCGA-IB-AAUQ-01A-22D-A40W-08	4284961	39207742	19921241	113	34403											
EID2B	126272	broad.mit.edu	37	chr19	40023035	40023035	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgaagtccatctgcggGggatccgcgtcaaaggctgc	15	12	2	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40023035G>A	ENST00000326282.4	-	1	459	c.408C>T	c.(406-408)ccC>ccT	p.P136P	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	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)			CCATCTGCGGGGGATCCGCGT	0.597																																						ENST00000326282.4																			0				endometrium(1)|lung(1)|urinary_tract(1)	3						c.(406-408)ccC>ccT		EP300 interacting inhibitor of differentiation 2B							55	49	51					19																	40023035		2203	4300	6503	SO:0001819	synonymous_variant	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023035G>A	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.408C>T	19.37:g.40023035G>A						EID2B_ENST00000601837.1_Intron	p.P136P	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	459	-	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)		136						Silent	SNP	ENST00000326282.4	37	c.408C>T	CCDS12539.1																																																																																				0.597	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		64	621	0	0	0	1	0	64	621					A	40023035	G	A	40023035	2	1	96	1	0	0	0	0	0	0	0	1	5004	1219	43	2		2	EID2B	19	40023035	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	815293	40023035	19105948	114	34404											
DYRK1B	9149	broad.mit.edu	37	chr19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-													acgaccaaggtatcggggctGggggggtaactgggccccgg							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)cagfs	p.Q545fs	DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					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)			TATCGGGGCTGGGGGGGTAAC	0.692																																						ENST00000593685.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1633-1635)agfs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B							22	28	26					19																	40316612		2161	4245	6406	SO:0001589	frameshift_variant	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40316612delG	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.1633delC	19.37:g.40316612delG	ENSP00000469863:p.Gln545fs					DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs	p.Q545fs			Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		11	2101	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		545					O75258|O75788|O75789	Frame_Shift_Del	DEL	ENST00000593685.1	37	c.1633delC	CCDS12543.1																																																																																				0.692	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		8	958						8	958	---	---	---	---	-	40316612	G	-	40316612	7	5	96	1	0	1	0	1	0	0	0	0	4871	1357	47	0	260	0	DYRK1B	19	40316612	Frame_Shift_Del	DEL	G	TCGA-IB-AAUQ-01A-22D-A40W-08	293577	40316612	18812371	115	34405											
FCGBP	8857	broad.mit.edu	37	chr19	40411753	40411753	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgcaggccaggc	12	15	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40411753G>A	ENST00000221347.6	-	7	3882	c.3875C>T	c.(3874-3876)gCc>gTc	p.A1292V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	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)			CTGCAGGACGGCAAACCGATG	0.632																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3874-3876)gCc>gTc		Fc fragment of IgG binding protein							52	51	51					19																	40411753		2202	4276	6478	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40411753G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3875C>T	19.37:g.40411753G>A	ENSP00000221347:p.Ala1292Val						p.A1292V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3882	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1292			VWFD 3.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.3875C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	7.754	0.704011	0.15172	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	4.54	2.2	0.27929	von Willebrand factor, type D domain (3);	0.888041	0.09493	N	0.794685	T	0.38026	0.1025	N	0.20445	0.575	0.09310	N	1	P	0.39352	0.669	B	0.38106	0.265	T	0.18272	-1.0342	10	0.38643	T	0.18	.	10.6724	0.45766	0.0:0.1341:0.7127:0.1532	.	1292	Q9Y6R7	FCGBP_HUMAN	V	1292	ENSP00000221347:A1292V	ENSP00000221347:A1292V	A	-	2	0	FCGBP	45103593	0.000000	0.05858	0.028000	0.17463	0.668000	0.39293	0.698000	0.25571	1.099000	0.41499	0.436000	0.28706	GCC		0.632	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	786	0	0	0	1	0	6	786					A	40411753	G	A	40411753	3	1	96	1	0	0	0	0	1	0	0	0	5803	1203	42	2	12462	2	FCGBP	19	40411753	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	95141	40411753	18717230	116	34406											
ZNF780A	284323	broad.mit.edu	37	chr19	40580666	40580666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaTtccttacattcaaagggttt	7	10	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Silent_p.E562E	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130	132	131					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000594395.1_Silent_p.E562E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		8	2157	0	0	0	1	0	8	2157					C	40580666	T	C	40580666	2	2	96	1	0	0	0	0	0	0	0	1	18205	1490	52	4		4	ZNF780A	19	40580666	Silent	SNP	T	TCGA-IB-AAUQ-01A-22D-A40W-08	168913	40580666	18548317	117	34407											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-													tcgactgccagaggttccttCtcctcctcctcctcccgttt							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					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)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	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.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		8	889						8	889	---	---	---	---	-	40929411	CTC	-	40929409	7	5	96	1	0	1	0	1	0	0	0	0	14170	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-IB-AAUQ-01A-22D-A40W-08	348743	40929409	18199574	118	34408											
CYP2A6	1548	broad.mit.edu	37	chr19	41351999	41351999	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ctccgtgttggggttcttctCctcctgcagggagagggggc	16	11	2	1	rs58261757		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:41351999C>G	ENST00000301141.5	-	6	855	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	279					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGGTTCTTCTCCTCCTGCAGG	0.557																																						ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(835-837)Gag>Cag		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						70	59	62					19																	41351999		2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351999C>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.835G>C	19.37:g.41351999C>G	ENSP00000301141:p.Glu279Gln					CTC-490E21.12_ENST00000601627.1_Intron	p.E279Q	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	855	-			279					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.835G>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	8.649	0.897840	0.17686	.	.	ENSG00000255974	ENST00000301141	T	0.01359	4.98	1.99	-2.41	0.06562	.	0.182114	0.45867	N	0.000324	T	0.00906	0.0030	N	0.17278	0.47	0.25078	N	0.990946	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.44267	-0.9339	10	0.66056	D	0.02	.	4.8188	0.13379	0.0:0.1219:0.3378:0.5403	rs58261757	279;279	Q13120;P11509	.;CP2A6_HUMAN	Q	279	ENSP00000301141:E279Q	ENSP00000301141:E279Q	E	-	1	0	CYP2A6	46043839	0.065000	0.20965	0.730000	0.30809	0.726000	0.41606	0.137000	0.15995	-0.649000	0.05430	-0.552000	0.04208	GAG		0.557	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		42	144	0	0	0	1	0	42	144					G	41351999	C	G	41351999	3	3	96	1	0	0	0	0	1	0	0	0	4173	864	30	5	665	5	CYP2A6	19	41351999	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	422590	41351999	17776984	119	34409											
TEX101	83639	broad.mit.edu	37	chr19	43922079	43922079	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccaacctgtgtggctttgggGacctgtttcagtgctccttc	11	12	1	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	147	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493																																						ENST00000602198.1																			1	Substitution - coding silent(1)	p.G165G(1)	lung(1)	large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(493-495)ggG>ggT		testis expressed 101							327	268	288					19																	43922079		2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922079G>T	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.441G>T	19.37:g.43922079G>T						TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Silent_p.G147G	p.G165G	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN			7	937	+		Prostate(69;0.0199)	147					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.495G>T	CCDS59393.1																																																																																				0.493	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		7	722	1	0	0.335167	1	0.335167	7	722					T	43922079	G	T	43922079	2	4	96	1	0	0	0	0	0	0	0	1	15825	1161	41	3		3	TEX101	19	43922079	Silent	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08	2570080	43922079	15206904	120	34410											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704341	56704341	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttgagtttctggggaCgccacagaccgtggagtgtc	14	10	1	2	rs139794340		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:56704341C>A	ENST00000586855.2	-	2	394	c.81G>T	c.(79-81)gcG>gcT	p.A27A	ZSCAN5B_ENST00000358992.3_Silent_p.A27A			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	27					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCTGGGGACGCCACAGACC	0.537																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(79-81)gcG>gcT		zinc finger and SCAN domain containing 5B							66	56	59					19																	56704341		692	1591	2283	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704341C>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.81G>T	19.37:g.56704341C>A						ZSCAN5B_ENST00000358992.3_Silent_p.A27A	p.A27A			A6NJL1	ZSA5B_HUMAN			2	394	-			27						Silent	SNP	ENST00000586855.2	37	c.81G>T	CCDS46203.1																																																																																				0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		5	65	1	0	0.00198382	1	0.00200846	5	65					A	56704341	C	A	56704341	2	1	96	1	0	0	0	0	0	0	0	1	18292	523	19	3		3	ZSCAN5B	19	56704341	Silent	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08	12782262	56704341	2424642	121	34411											
ZNF606	80095	broad.mit.edu	37	chr19	58491598	58491598	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgggattgttcttcctcaaaAatgctctgtgctgggatcaa	10	8	4	0			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:58491598A>C	ENST00000341164.4	-	7	1070	c.450T>G	c.(448-450)atT>atG	p.I150M	ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTTCCTCAAAAATGCTCTGTG	0.383																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(448-450)atT>atG		zinc finger protein 606							123	111	115					19																	58491598		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58491598A>C	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.450T>G	19.37:g.58491598A>C	ENSP00000343617:p.Ile150Met					ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	p.I150M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1070	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	150					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.450T>G	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357244	0.24598	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.32023	1.47;2.78;1.47	4.88	2.73	0.32206	.	0.165679	0.28577	N	0.014847	T	0.19886	0.0478	L	0.38175	1.15	0.19775	N	0.999955	P	0.36438	0.553	B	0.30029	0.11	T	0.09707	-1.0662	10	0.52906	T	0.07	.	8.1914	0.31370	0.4706:0.0:0.0:0.5294	.	150	Q8WXB4	ZN606_HUMAN	M	150;60;150	ENSP00000343617:I150M;ENSP00000445624:I60M;ENSP00000446972:I150M	ENSP00000343617:I150M	I	-	3	3	ZNF606	63183410	.	.	0.991000	0.47740	0.994000	0.84299	.	.	0.301000	0.22738	0.533000	0.62120	ATT		0.383	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		46	453	0	0	0	1	0	46	453					C	58491598	A	C	58491598	3	2	96	1	0	0	0	0	1	0	0	0	18085	10	1	4	1932	4	ZNF606	19	58491598	Missense_Mutation	SNP	A	TCGA-IB-AAUQ-01A-22D-A40W-08	1787257	58491598	637385	122	34412											
CDH22	64405	broad.mit.edu	37	chr20	44839199	44839199	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggattcgaagtccaggcGctgcgggagggagcagaggg	20	8	0	1			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:44839199G>A	ENST00000372262.3	-	6	1433	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	345	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AAGTCCAGGCGCTGCGGGAGG	0.672																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.e6-1		cadherin 22, type 2							36	34	35					20																	44839199		2202	4299	6501	SO:0001630	splice_region_variant	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839199G>A	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1033-1C>T	20.37:g.44839199G>A						CDH22_ENST00000537909.1_Splice_Site_p.R345_splice|CDH22_ENST00000474438.1_5'UTR	p.R345_splice	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1433	-		Myeloproliferative disorder(115;0.0122)	345			Cadherin 3.		B9EGK7|O43205	Splice_Site	SNP	ENST00000372262.3	37	c.1032_splice	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603952	0.46423	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.54479	0.57;0.57	4.25	0.999	0.19862	Cadherin (5);Cadherin-like (1);	0.640659	0.15642	N	0.251802	T	0.42177	0.1191	L	0.59436	1.845	0.42300	D	0.992174	B	0.15473	0.013	B	0.10450	0.005	T	0.43491	-0.9388	10	0.87932	D	0	.	2.403	0.04406	0.1653:0.1518:0.5267:0.1562	.	345	Q9UJ99	CAD22_HUMAN	C	345	ENSP00000361336:R345C;ENSP00000437790:R345C	ENSP00000361336:R345C	R	-	1	0	CDH22	44272606	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	3.050000	0.49877	0.411000	0.25702	0.555000	0.69702	CGC		0.672	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	Missense_Mutation	22	157	0	0	0	1	0	22	157					A	44839199	G	A	44839199	5	1	96	1	0	0	0	0	0	0	1	0	3116	1101	38	1	1477	1	CDH22	20	44839199	Splice_Site	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		44839199	18186321	123	34413											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	562						7	562	---	---	---	---	-	61833652	CCT	-	61833650	7	5	96	1	0	1	0	1	0	0	0	0	17552	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-IB-AAUQ-01A-22D-A40W-08	16994451	61833650	1191870	124	34414											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078062	46078062	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgccagccctccgtgtgcGtgcccgtgagctgcaggccc	13	18	0	1	rs201241084		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:46078062G>A	ENST00000397907.1	+	1	214	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	56	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGTGTGCGTGCCCGTGAG	0.642																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(166-168)Gtg>Atg		keratin associated protein 12-3							91	103	99					21																	46078062		2179	4268	6447	SO:0001583	missense	386683					intermediate filament		g.chr21:46078062G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"Keratin associated proteins"	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.166G>A	21.37:g.46078062G>A	ENSP00000381005:p.Val56Met					TSPEAR_ENST00000323084.4_Intron	p.V56M	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	214	+			56			14 X 5 AA approximate repeats.			Missense_Mutation	SNP	ENST00000397907.1	37	c.166G>A	CCDS42964.1	.	.	.	.	.	.	.	.	.	.	g	9.432	1.085873	0.20390	.	.	ENSG00000205439	ENST00000397907	T	0.08546	3.08	4.25	-2.92	0.05615	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	P	0.34587	0.458	B	0.22880	0.042	T	0.33599	-0.9862	8	0.45353	T	0.12	.	8.1305	0.31024	0.1538:0.4843:0.3619:0.0	.	56	P60328	KR123_HUMAN	M	56	ENSP00000381005:V56M	ENSP00000381005:V56M	V	+	1	0	KRTAP12-3	44902490	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.847000	0.01675	-0.473000	0.06871	-0.691000	0.03719	GTG		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			53	384	0	0	0	1	0	53	384					A	46078062	G	A	46078062	3	1	96	1	0	0	0	0	1	0	0	0	8550	1145	40	1	168	1	KRTAP12-3	21	46078062	Missense_Mutation	SNP	G	TCGA-IB-AAUQ-01A-22D-A40W-08		46078062	2051833	125	34415											
TOMM22	56993	broad.mit.edu	37	chr22	39079827	39079827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgccaggggctctaccctCacttcctggaaagatctaga	9	12	3	2			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:39079827C>T	ENST00000216034.4	+	4	441	c.410C>T	c.(409-411)tCa>tTa	p.S137L	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	137	C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					GCTCTACCCTCACTTCCTGGA	0.433																																						ENST00000216034.4																			0				large_intestine(1)|lung(2)	3						c.(409-411)tCa>tTa		translocase of outer mitochondrial membrane 22 homolog (yeast)							135	122	127					22																	39079827		2203	4300	6503	SO:0001583	missense	56993				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity	g.chr22:39079827C>T	AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.410C>T	22.37:g.39079827C>T	ENSP00000216034:p.Ser137Leu						p.S137L	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN			4	441	+	Melanoma(58;0.04)		137			C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).			Missense_Mutation	SNP	ENST00000216034.4	37	c.410C>T	CCDS13975.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074761	0.20227	.	.	ENSG00000100216	ENST00000216034	.	.	.	5.52	3.44	0.39384	.	0.176473	0.50627	D	0.000106	T	0.26846	0.0657	N	0.11560	0.145	0.32814	D	0.501897	B	0.02656	0.0	B	0.04013	0.001	T	0.20773	-1.0265	9	0.30078	T	0.28	-0.006	10.5986	0.45354	0.0:0.8507:0.0:0.1493	.	137	Q9NS69	TOM22_HUMAN	L	137	.	ENSP00000216034:S137L	S	+	2	0	TOMM22	37409773	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.034000	0.76511	0.704000	0.31869	0.563000	0.77884	TCA		0.433	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320842.1			30	214	0	0	0	1	0	30	214					T	39079827	C	T	39079827	3	4	96	1	0	0	0	0	1	0	0	0	16408	838	29	2	424	2	TOMM22	22	39079827	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		39079827	12224739	126	34416											
FGF13	2258	broad.mit.edu	37	chrX	137715118	137715118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcgggagaactccgtgagatCgtgcagtgatggctccttgt	14	9	0	3			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					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)					TCCGTGAGATCGTGCAGTGAT	0.483																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(631-633)Gat>Aat		fibroblast growth factor 13							128	100	110					X																	137715118		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137715118C>T	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.631G>A	X.37:g.137715118C>T	ENSP00000322390:p.Asp211Asn					FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N	p.D211N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			5	1292	-	Acute lymphoblastic leukemia(192;0.000127)		211					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.631G>A	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350265	0.61183	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198	T;T;T;T;T;D	0.81739	-0.21;-0.21;-0.21;-0.21;-0.21;-1.53	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.29936	0.114;0.262;0.182;0.23	B;B;B;B	0.20184	0.012;0.018;0.028;0.019	T	0.71126	-0.4683	10	0.44086	T	0.13	.	18.0496	0.89343	0.0:1.0:0.0:0.0	.	165;221;158;211	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	N	211;158;192;221;165;221	ENSP00000322390:D211N;ENSP00000303391:D158N;ENSP00000409276:D192N;ENSP00000359635:D221N;ENSP00000437903:D165N;ENSP00000396198:D221N	ENSP00000303391:D158N	D	-	1	0	FGF13	137542784	1.000000	0.71417	0.982000	0.44146	0.920000	0.55202	7.487000	0.81328	2.485000	0.83878	0.600000	0.82982	GAT		0.483	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		48	174	0	0	0	1	0	48	174					T	137715118	C	T	137715118	3	4	96	1	0	0	0	0	1	0	0	0	5867	884	31	1	110	1	FGF13	23	137715118	Missense_Mutation	SNP	C	TCGA-IB-AAUQ-01A-22D-A40W-08		137715118	17555442	127	34417											
CCDC21	64793	broad.mit.edu	37	chr1	26582314	26582314	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaactcagcacttgtcgGcagcagctggaattgattcg	12	9	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:26582314G>A	ENST00000252992.4	+	4	992	c.861G>A	c.(859-861)cgG>cgA	p.R287R	CEP85_ENST00000451429.2_Silent_p.R236R	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	287						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCACTTGTCGGCAGCAGCTGG	0.502																																						ENST00000252992.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(859-861)cgG>cgA		centrosomal protein 85kDa							69	71	71					1																	26582314		2203	4300	6503	SO:0001819	synonymous_variant	64793					centrosome|nucleolus|spindle pole		g.chr1:26582314G>A	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.861G>A	1.37:g.26582314G>A						CEP85_ENST00000451429.2_Silent_p.R236R	p.R287R	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN			4	992	+			287					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	c.861G>A	CCDS277.1																																																																																				0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		5	409	0	0	0	1	0	5	409					A	26582314	G	A	26582314	2	1	97	1	0	0	0	0	0	0	0	1	2803	1190	42	2		2	CCDC21	1	26582314	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		26582314	222668307	1	34418											
ARID1A	8289	broad.mit.edu	37	chr1	27105586	27105586	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatctttggcattttaaagGagtatgaggtgggtgaccca	13	5	1	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:27105586G>T	ENST00000324856.7	+	20	5568	c.5197G>T	c.(5197-5199)Gag>Tag	p.E1733*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1516*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1733					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.E1733*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTTTAAAGGAGTATGAGGT	0.478			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.E1733*(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5197-5199)Gag>Tag		AT rich interactive domain 1A (SWI-like)							138	148	144					1																	27105586		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105586G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5197G>T	1.37:g.27105586G>T	ENSP00000320485:p.Glu1733*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1516*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61*	p.E1733*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5568	+		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)	1733					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.5197G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.761334|9.761334	0.99257|0.99257	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74596	.|0.3737	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73119	.|-0.4083	.|4	0.49607|.	T|.	0.09|.	-13.7961|-13.7961	18.7335|18.7335	0.91744|0.91744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1733;1516;1350;61|629	.|.	ENSP00000320485:E1733X|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26978173|26978173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.084000|9.084000	0.94076|0.94076	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		18	872	1	0	8.28177e-16	1	8.83389e-16	18	872					T	27105586	G	T	27105586	4	4	97	1	0	0	0	0	0	1	0	0	913	1175	41	3	5275	3	ARID1A	1	27105586	Nonsense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	523272	27105586	222145035	2	34419											
FAM63A	55793	broad.mit.edu	37	chr1	150971955	150971955	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtaggtcagctgggccgCggtggtctccaggaactgct	17	10	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:150971955C>T	ENST00000361936.5	-	8	1825	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T|FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	291						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)			AGCTGGGCCGCGGTGGTCTCC	0.547																																						ENST00000361936.5																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(871-873)Gcg>Acg		family with sequence similarity 63, member A							144	140	141					1																	150971955		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150971955C>T	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.871G>A	1.37:g.150971955C>T	ENSP00000354814:p.Ala291Thr					FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T|FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T	p.A291T	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1825	-	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)		291					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.871G>A	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556802	0.96514	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.54675	0.63;0.6;0.56;0.66	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.944;0.997	T	0.72846	-0.4169	10	0.56958	D	0.05	-20.127	16.156	0.81666	0.0:1.0:0.0:0.0	.	339;291	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	T	149;291;339;196	ENSP00000310923:A149T;ENSP00000354814:A291T;ENSP00000354669:A339T;ENSP00000437174:A196T	ENSP00000310923:A149T	A	-	1	0	FAM63A	149238579	1.000000	0.71417	0.141000	0.22245	0.816000	0.46133	7.540000	0.82074	2.687000	0.91594	0.655000	0.94253	GCG		0.547	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		16	664	0	0	0	1	0	16	664					T	150971955	C	T	150971955	3	4	97	1	0	0	0	0	1	0	0	0	5621	768	27	1	554	1	FAM63A	1	150971955	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	123866369	150971955	98278666	3	34420											
PSMD4	5710	broad.mit.edu	37	chr1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccagcaagagtttggccGcactgggcttcctgacctaa	11	13	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547																																						ENST00000368884.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(814-816)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4																																				SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151238835G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His					PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	p.R272H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	895	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		272					D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.815G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC		0.547	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	NM_002810		5	433	0	0	0	1	0	5	433					A	151238835	G	A	151238835	3	1	97	1	0	0	0	0	1	0	0	0	12747	1087	38	1	845	1	PSMD4	1	151238835	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	266880	151238835	98011786	4	34421											
FLG	2312	broad.mit.edu	37	chr1	152285280	152285280	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctgttcatgggatgaCgcagcctgtccactagagga	12	11	1	2	rs559153664	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:152285280C>T	ENST00000368799.1	-	3	2117	c.2082G>A	c.(2080-2082)gcG>gcA	p.A694A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	694	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)			CATGGGATGACGCAGCCTGTC	0.562									Ichthyosis				-|||	2	0.000399361	0.0015	0.0	5008	,	,		19926	0.0		0.0	False		,,,				2504	0.0					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2080-2082)gcG>gcA		filaggrin							381	381	381					1																	152285280		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285280C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2082G>A	1.37:g.152285280C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.A694A	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2117	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		694			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2082G>A	CCDS30860.1																																																																																				0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		62	2563	0	0	0	1	0	62	2563					T	152285280	C	T	152285280	2	4	97	1	0	0	0	0	0	0	0	1	5947	523	19	1		1	FLG	1	152285280	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	1046445	152285280	96965341	5	34422											
GATAD2B	57459	broad.mit.edu	37	chr1	153800794	153800794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcttcaacagattcaaGcgaagagcatcttctgtcat	7	12	5	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:153800794G>A	ENST00000368655.4	-	2	273	c.30C>T	c.(28-30)cgC>cgT	p.R10R		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	10					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGATTCAAGCGAAGAGCAT	0.433																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(28-30)cgC>cgT		GATA zinc finger domain containing 2B							81	82	81					1																	153800794		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153800794G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.30C>T	1.37:g.153800794G>A							p.R10R	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	273	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		10					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.30C>T	CCDS1054.1																																																																																				0.433	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		37	512	0	0	0	1	0	37	512					A	153800794	G	A	153800794	2	1	97	1	0	0	0	0	0	0	0	1	6289	958	34	2		2	GATAD2B	1	153800794	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	1515514	153800794	95449827	6	34423											
TTC13	79573	broad.mit.edu	37	chr1	231090100	231090100	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcattgttgaaaaatgCcgtattgcttcatcatacag	8	7	2	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:231090100C>T	ENST00000366661.4	-	4	499	c.492G>A	c.(490-492)cgG>cgA	p.R164R	TTC13_ENST00000366662.4_Silent_p.R164R|TTC13_ENST00000414259.1_Silent_p.R164R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	164										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)		TTGAAAAATGCCGTATTGCTT	0.308																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(490-492)cgG>cgA		tetratricopeptide repeat domain 13							59	58	58					1																	231090100		2203	4299	6502	SO:0001819	synonymous_variant	79573						binding	g.chr1:231090100C>T		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.492G>A	1.37:g.231090100C>T						TTC13_ENST00000414259.1_Silent_p.R164R|TTC13_ENST00000366662.4_Silent_p.R164R	p.R164R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	4	499	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	164					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	c.492G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201847	0.22121	.	.	ENSG00000143643	ENST00000522821	.	.	.	5.56	-0.919	0.10478	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54316	-0.8312	4	.	.	.	-2.1619	11.0157	0.47687	0.0:0.336:0.0:0.664	.	.	.	.	D	153	.	.	G	-	2	0	TTC13	229156723	0.983000	0.35010	0.997000	0.53966	0.988000	0.76386	-0.017000	0.12590	-0.096000	0.12329	-0.140000	0.14226	GGC		0.308	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		4	232	0	0	0	1	0	4	232					T	231090100	C	T	231090100	2	4	97	1	0	0	0	0	0	0	0	1	16734	726	26	2		2	TTC13	1	231090100	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	77289306	231090100	18160521	7	34424											
PCNXL2	80003	broad.mit.edu	37	chr1	233152748	233152748	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgatcccctggagacaCgggacgtagtcatcatcaat	11	11	3	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:233152748C>T	ENST00000258229.9	-	27	4992	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	PCNXL2_ENST00000344698.2_Silent_p.P238P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1586						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)				CCTGGAGACACGGGACGTAGT	0.478																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4756-4758)ccG>ccA		pecanex-like 2 (Drosophila)							133	129	130					1																	233152748		1989	4163	6152	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233152748C>T	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.4758G>A	1.37:g.233152748C>T						PCNXL2_ENST00000344698.2_Silent_p.P238P	p.P1586P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			27	4992	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1586					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.4758G>A	CCDS44335.1																																																																																				0.478	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		10	400	0	0	0	1	0	10	400					T	233152748	C	T	233152748	2	4	97	1	0	0	0	0	0	0	0	1	11634	523	19	1		1	PCNXL2	1	233152748	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	2062648	233152748	16097873	8	34425											
PLB1	151056	broad.mit.edu	37	chr2	28826861	28826861	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactgcgttctgaccctgCgggagaactcccaagagcta	11	12	1	3	rs548225932		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:28826861C>T	ENST00000327757.5	+	40	2847	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000422425.2_Missense_Mutation_p.R924W	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	935	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)					TCTGACCCTGCGGGAGAACTC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18914	0.0		0.0	False		,,,				2504	0.001					ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(2770-2772)Cgg>Tgg		phospholipase B1							83	74	77					2																	28826861		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28826861C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2803C>T	2.37:g.28826861C>T	ENSP00000330442:p.Arg935Trp					PLB1_ENST00000327757.5_Missense_Mutation_p.R935W|PLB1_ENST00000541605.1_Intron	p.R924W	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			39	2814	+	Acute lymphoblastic leukemia(172;0.155)		935			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.2770C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595327	0.66219	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.14144	2.53;2.53	5.42	-2.49	0.06403	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.806235	0.10925	N	0.618969	T	0.29061	0.0722	M	0.74881	2.28	0.21878	N	0.999492	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.12785	-1.0534	10	0.66056	D	0.02	-9.4276	4.5013	0.11865	0.5745:0.2231:0.1199:0.0825	.	924;935	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	W	935;924	ENSP00000330442:R935W;ENSP00000416440:R924W	ENSP00000330442:R935W	R	+	1	2	PLB1	28680365	0.000000	0.05858	0.022000	0.16811	0.993000	0.82548	-0.785000	0.04628	-0.179000	0.10654	0.555000	0.69702	CGG		0.607	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			4	217	0	0	0	1	0	4	217					T	28826861	C	T	28826861	3	4	97	1	0	0	0	0	1	0	0	0	12066	759	27	1	2994	1	PLB1	2	28826861	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		28826861	214372512	9	34426											
C2orf56	55471	broad.mit.edu	37	chr2	37474607	37474607	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttatgttcaaggggttttgCgaccacaagcttcatgatgt	10	7	2	1	rs192973218	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:37474607C>T	ENST00000002125.4	+	9	985	c.945C>T	c.(943-945)tgC>tgT	p.C315C	NDUFAF7_ENST00000336237.6_Silent_p.C217C	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	315					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)										AGGGGTTTTGCGACCACAAGC	0.343													c|||	2	0.000399361	0.0	0.0014	5008	,	,		17943	0.0		0.0	False		,,,				2504	0.001					ENST00000002125.4																			0											c.(943-945)tgC>tgT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 7		C	,	2,4404	4.2+/-10.8	0,2,2201	86	79	82		651,945	-1.4	1	2		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C2orf56	NM_001083946.1,NM_144736.4	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	217/344,315/442	37474607	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55471							g.chr2:37474607C>T		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.945C>T	2.37:g.37474607C>T						NDUFAF7_ENST00000336237.6_Silent_p.C217C	p.C315C	NM_144736.4	NP_653337.1					9	985	+								Q7Z399|Q9P1G3	Silent	SNP	ENST00000002125.4	37	c.945C>T	CCDS1788.1																																																																																				0.343	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	NM_144736		5	439	0	0	0	1	0	5	439					T	37474607	C	T	37474607	2	4	97	1	0	0	0	0	0	0	0	1	2184	776	27	1		1	C2orf56	2	37474607	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	8647746	37474607	205724766	10	34427											
PSME4	23198	broad.mit.edu	37	chr2	54176304	54176304	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaagttgatcaaaaggcggGcaaatccctgcatcatgctg	10	10	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:54176304G>A	ENST00000404125.1	-	2	414	c.359C>T	c.(358-360)gCc>gTc	p.A120V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	120					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)			CAAAAGGCGGGCAAATCCCTG	0.358																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(358-360)gCc>gTc		proteasome (prosome, macropain) activator subunit 4							103	102	102					2																	54176304		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54176304G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.359C>T	2.37:g.54176304G>A	ENSP00000384211:p.Ala120Val					PSME4_ENST00000421748.2_Intron	p.A120V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	414	-			120					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.359C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984407	0.93044	.	.	ENSG00000068878	ENST00000404125	T	0.06768	3.26	5.06	5.06	0.68205	.	0.170005	0.51477	D	0.000094	T	0.15392	0.0371	M	0.83223	2.63	0.80722	D	1	P	0.42078	0.77	B	0.37550	0.253	T	0.14117	-1.0484	10	0.23891	T	0.37	.	18.799	0.92008	0.0:0.0:1.0:0.0	.	120	Q14997	PSME4_HUMAN	V	120	ENSP00000384211:A120V	ENSP00000374643:A120V	A	-	2	0	PSME4	54029808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.882000	0.87258	2.494000	0.84150	0.655000	0.94253	GCC		0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		5	401	0	0	0	1	0	5	401					A	54176304	G	A	54176304	3	1	97	1	0	0	0	0	1	0	0	0	12756	1203	42	2	5352	2	PSME4	2	54176304	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	16701697	54176304	189023069	11	34428											
TGOLN2	10618	broad.mit.edu	37	chr2	85554675	85554675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcttttggagtctgCggctccggatgcgacttggt	16	9	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:85554675C>T	ENST00000409232.3	-	2	241	c.180G>A	c.(178-180)ccG>ccA	p.P60P	TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000377386.3_Silent_p.P60P|TGOLN2_ENST00000444342.2_Silent_p.P60P			O43493	TGON2_HUMAN	trans-golgi network protein 2	60	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGGAGTCTGCGGCTCCGGAT	0.597																																						ENST00000377386.3																			0											c.(178-180)ccG>ccA		trans-golgi network protein 2							94	97	96					2																	85554675		1964	4147	6111	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554675C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.180G>A	2.37:g.85554675C>T						TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000409232.3_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P	p.P60P			O43493	TGON2_HUMAN			2	642	-			60			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.180G>A	CCDS56126.1																																																																																				0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		7	891	0	0	0	1	0	7	891					T	85554675	C	T	85554675	2	4	97	1	0	0	0	0	0	0	0	1	15888	755	27	1		1	TGOLN2	2	85554675	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	31378371	85554675	157644698	12	34429											
PSD4	23550	broad.mit.edu	37	chr2	113940171	113940171	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggatccaccggagcctttCgaggagcaaacctgggccac	13	13	0	0	rs139939908		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:113940171C>T	ENST00000245796.6	+	2	333	c.138C>T	c.(136-138)ttC>ttT	p.F46F	PSD4_ENST00000441564.3_Silent_p.F46F|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	46					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						CGGAGCCTTTCGAGGAGCAAA	0.602																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(136-138)ttC>ttT		pleckstrin and Sec7 domain containing 4		C		1,4405	2.1+/-5.4	0,1,2202	88	84	85		138	-3.2	0	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	PSD4	NM_012455.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		46/1057	113940171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940171C>T	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.138C>T	2.37:g.113940171C>T						PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Silent_p.F46F	p.F46F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			2	333	+			46					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.138C>T	CCDS33276.1																																																																																				0.602	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		6	245	0	0	0	1	0	6	245					T	113940171	C	T	113940171	2	4	97	1	0	0	0	0	0	0	0	1	12696	883	31	1		1	PSD4	2	113940171	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	28385496	113940171	129259202	13	34430											
CCDC93	54520	broad.mit.edu	37	chr2	118677965	118677965	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcagcatctcgttcttgCggccctcctggagggaaagc	12	13	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:118677965C>T	ENST00000376300.2	-	24	1987	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.R616H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	617										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTCGTTCTTGCGGCCCTCCTG	0.502																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(1849-1851)cGc>cAc		coiled-coil domain containing 93							94	90	91					2																	118677965		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118677965C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1850G>A	2.37:g.118677965C>T	ENSP00000365477:p.Arg617His					CCDC93_ENST00000319432.5_Missense_Mutation_p.R616H|HTR5BP_ENST00000434708.1_RNA	p.R617H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			24	1987	-			617					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1850G>A	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696565	0.88830	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.65549	-0.16;-0.16	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.61703	1.905	0.48341	D	0.999637	D	0.71674	0.998	P	0.62560	0.904	T	0.74870	-0.3517	10	0.56958	D	0.05	-2.0325	13.8564	0.63529	0.0:1.0:0.0:0.0	.	617	Q567U6	CCD93_HUMAN	H	617;616	ENSP00000365477:R617H;ENSP00000324135:R616H	ENSP00000324135:R616H	R	-	2	0	CCDC93	118394435	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.073000	0.57570	2.629000	0.89072	0.591000	0.81541	CGC		0.502	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		4	245	0	0	0	1	0	4	245					T	118677965	C	T	118677965	3	4	97	1	0	0	0	0	1	0	0	0	2879	768	27	1	49	1	CCDC93	2	118677965	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	4737794	118677965	124521408	14	34431											
GRB14	2888	broad.mit.edu	37	chr2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcgagtccttcttcaaccGcaactgaaagggcttcagtg	10	11	3	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393																																						ENST00000263915.3																			0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1195-1197)gCg>gTg		growth factor receptor-bound protein 14							98	100	99					2																	165353909		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353909G>A		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.1196C>T	2.37:g.165353909G>A	ENSP00000263915:p.Ala399Val					GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	p.A399V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN			10	1734	-			399					B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.1196C>T	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400675	0.96030	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.39229	1.67;1.75;1.09	5.81	5.81	0.92471	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.68051	-0.5511	10	0.59425	D	0.04	-15.2997	20.0825	0.97783	0.0:0.0:1.0:0.0	.	312;399	B7Z7F9;Q14449	.;GRB14_HUMAN	V	399;312;354	ENSP00000263915:A399V;ENSP00000443699:A312V;ENSP00000416786:A354V	ENSP00000263915:A399V	A	-	2	0	GRB14	165062155	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG		0.393	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			6	559	0	0	0	1	0	6	559					A	165353909	G	A	165353909	3	1	97	1	0	0	0	0	1	0	0	0	6787	1087	38	1	446	1	GRB14	2	165353909	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	46675944	165353909	77845464	15	34432											
PRKCD	5580	broad.mit.edu	37	chr3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-													ttgtgatggagttcctcaacGggggggacctgatgtaccac							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	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)	GTTCCTCAACGGGGGGGACCT	0.602																																						ENST00000394729.2																			0				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						c.(1294-1296)ggfs		protein kinase C, delta							215	220	218					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		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.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		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)	13	1622	+		Ovarian(412;0.0728)	433			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			9	1540						9	1540	---	---	---	---	-	53220653	G	-	53220653	7	5	97	1	0	1	0	1	0	0	0	0	12556	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-IB-AAUR-01A-21D-A38G-08		53220653	144801777	16	34433											
CHDH	55349	broad.mit.edu	37	chr3	53852082	53852082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgtcggcttttgcccGcacaaaggcatctatctctt	10	13	2	0	rs574370935	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:53852082G>A	ENST00000315251.6	-	9	1944	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	503					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)	GCTTTTGCCCGCACAAAGGCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19077	0.002		0.0	False		,,,				2504	0.0					ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1507-1509)Cgg>Tgg		choline dehydrogenase	Choline(DB00122)						104	99	101					3																	53852082		2203	4300	6503	SO:0001583	missense	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53852082G>A	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.1507C>T	3.37:g.53852082G>A	ENSP00000319851:p.Arg503Trp						p.R503W	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		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)	9	1944	-		Hepatocellular(537;0.152)	503					Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	c.1507C>T	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403049	0.83230	.	.	ENSG00000016391	ENST00000315251	T	0.55234	0.53	5.69	4.74	0.60224	Glucose-methanol-choline oxidoreductase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	H	0.97635	4.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.86899	0.2053	10	0.87932	D	0	-44.1731	13.3832	0.60780	0.0:0.0:0.7318:0.2682	.	503	Q8NE62	CHDH_HUMAN	W	503	ENSP00000319851:R503W	ENSP00000319851:R503W	R	-	1	2	CHDH	53827122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.555000	0.53727	2.676000	0.91093	0.655000	0.94253	CGG		0.582	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		7	502	0	0	0	1	0	7	502					A	53852082	G	A	53852082	3	1	97	1	0	0	0	0	1	0	0	0	3342	1086	38	1	281	1	CHDH	3	53852082	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	631429	53852082	144170348	17	34434											
CHDH	55349	broad.mit.edu	37	chr3	53852140	53852140	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttcctggctggagctctttCcctcggaacggagccagggc	13	14	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:53852140C>A	ENST00000315251.6	-	9	1886	c.1449G>T	c.(1447-1449)ggG>ggT	p.G483G		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	483					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)	GGAGCTCTTTCCCTCGGAACG	0.517																																						ENST00000315251.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1447-1449)ggG>ggT		choline dehydrogenase	Choline(DB00122)						71	68	69					3																	53852140		2203	4300	6503	SO:0001819	synonymous_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53852140C>A	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.1449G>T	3.37:g.53852140C>A							p.G483G	NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN		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)	9	1886	-		Hepatocellular(537;0.152)	483					Q9NY17	Silent	SNP	ENST00000315251.6	37	c.1449G>T	CCDS2873.1																																																																																				0.517	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397		6	312	1	0	0.217242	1	0.217242	6	312					A	53852140	C	A	53852140	2	1	97	1	0	0	0	0	0	0	0	1	3342	842	30	3		3	CHDH	3	53852140	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	58	53852140	144170290	18	34435											
FAM107A	11170	broad.mit.edu	37	chr3	58555477	58555477	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgactccgagaggccttcacGgggttcagcagcttcttggg	14	11	3	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:58555477G>A	ENST00000394481.1	-	3	669	c.111C>T	c.(109-111)ccC>ccT	p.P37P	RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000360997.2_Silent_p.P37P|FAM107A_ENST00000474531.1_Silent_p.P68P|FAM107A_ENST00000447756.2_Silent_p.P65P|FAM107A_ENST00000464064.1_Silent_p.P37P	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	37					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)		AGGCCTTCACGGGGTTCAGCA	0.622																																						ENST00000394481.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(109-111)ccC>ccT		family with sequence similarity 107, member A							66	69	68					3																	58555477		2203	4300	6503	SO:0001819	synonymous_variant	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58555477G>A	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.111C>T	3.37:g.58555477G>A						FAM107A_ENST00000360997.2_Silent_p.P37P|FAM107A_ENST00000464064.1_Silent_p.P37P|FAM107A_ENST00000474531.1_Silent_p.P68P|FAM107A_ENST00000447756.2_Silent_p.P65P	p.P37P	NM_007177.2	NP_009108.1	O95990	F107A_HUMAN		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)	3	669	-			37					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Silent	SNP	ENST00000394481.1	37	c.111C>T	CCDS2892.1																																																																																				0.622	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	NM_007177		8	302	0	0	0	1	0	8	302					A	58555477	G	A	58555477	2	1	97	1	0	0	0	0	0	0	0	1	5410	1103	39	1		1	FAM107A	3	58555477	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	4703337	58555477	139466953	19	34436											
ZBTB20	26137	broad.mit.edu	37	chr3	114070605	114070605	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccgtggatgcgcaccGttacgtcacagaagtggcca	12	13	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:114070605G>A	ENST00000474710.1	-	4	498	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	107	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.T34M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATGCGCACCGTTACGTCACA	0.602																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			1	Substitution - Missense(1)	p.T34M(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(100-102)aCg>aTg		zinc finger and BTB domain containing 20							56	56	56					3																	114070605		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070605G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.320C>T	3.37:g.114070605G>A	ENSP00000419153:p.Thr107Met					ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T107M	p.T34M	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	922	-			107					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.101C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286334	0.80803	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.98	5.98	0.97165	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87050	0.2146	10	0.87932	D	0	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	107	Q9HC78	ZBT20_HUMAN	M	34;34;34;34;107;34;34;34	ENSP00000420324:T34M;ENSP00000377375:T34M;ENSP00000418092:T34M;ENSP00000419902:T34M;ENSP00000419153:T107M;ENSP00000349803:T34M;ENSP00000417307:T34M;ENSP00000420684:T34M	ENSP00000349803:T34M	T	-	2	0	ZBTB20	115553295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.843000	0.97960	0.650000	0.86243	ACG		0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		4	164	0	0	0	1	0	4	164					A	114070605	G	A	114070605	3	1	97	1	0	0	0	0	1	0	0	0	17582	1145	40	1	1913	1	ZBTB20	3	114070605	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	55515128	114070605	83951825	20	34437											
MGLL	11343	broad.mit.edu	37	chr3	127413957	127413957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctccacccgtgagacgGcattcagcagttggatgccg	13	14	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:127413957G>A	ENST00000434178.2	-	7	1543	c.647C>T	c.(646-648)gCc>gTc	p.A216V	MGLL_ENST00000265052.5_Missense_Mutation_p.A226V|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000453507.2_Missense_Mutation_p.A196V|MGLL_ENST00000398101.3_Missense_Mutation_p.A190V|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V			Q99685	MGLL_HUMAN	monoglyceride lipase	216					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CCGTGAGACGGCATTCAGCAG	0.612																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(646-648)gCc>gTc		monoglyceride lipase							53	59	57					3																	127413957		2098	4218	6316	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127413957G>A	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.647C>T	3.37:g.127413957G>A	ENSP00000402798:p.Ala216Val					MGLL_ENST00000265052.5_Missense_Mutation_p.A226V|MGLL_ENST00000398101.3_Missense_Mutation_p.A190V|MGLL_ENST00000453507.2_Missense_Mutation_p.A196V|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V|MGLL_ENST00000476682.1_5'UTR	p.A216V			Q99685	MGLL_HUMAN			7	1543	-			216					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.647C>T	CCDS43148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.690146|4.690146	0.88735|0.88735	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000536024;ENST00000453507;ENST00000484451|ENST00000496306	T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73164|0.73164	0.3552|0.3552	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.76494|.	0.979;0.999;0.986;0.994|.	P;D;P;D|.	0.67548|.	0.751;0.952;0.789;0.923|.	T|T	0.72218|0.72218	-0.4357|-0.4357	10|5	0.31617|.	T|.	0.26|.	-40.9361|-40.9361	18.335|18.335	0.90285|0.90285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196;216;226;190|.	B7Z9D1;Q99685;B3KRC2;E7EWX8|.	.;MGLL_HUMAN;.;.|.	V|S	216;226;216;190;226;196;110|122	ENSP00000402798:A216V;ENSP00000265052:A226V;ENSP00000381176:A216V;ENSP00000381173:A190V;ENSP00000419340:A110V|.	ENSP00000265052:A226V|.	A|P	-|-	2|1	0|0	MGLL|MGLL	128896647|128896647	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.923000|0.923000	0.55619|0.55619	5.586000|5.586000	0.67503|0.67503	2.317000|2.317000	0.78254|0.78254	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.612	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		5	262	0	0	0	1	0	5	262					A	127413957	G	A	127413957	3	1	97	1	0	0	0	0	1	0	0	0	9597	1203	42	2	272	2	MGLL	3	127413957	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	13343352	127413957	70608473	21	34438											
ACAD11	84129	broad.mit.edu	37	chr3	132297650	132297650	+	Frame_Shift_Del	DEL	A	A	-													ggatacctacctgtgtagccAaaaactgacaaaggccttat							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:132297650delA	ENST00000264990.6	-	15	2735	c.1764delT	c.(1762-1764)tttfs	p.F588fs	ACAD11_ENST00000545291.1_Frame_Shift_Del_p.F113fs|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	588					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CTGTGTAGCCAAAAACTGACA	0.363																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(1762-1764)ttfs		acyl-CoA dehydrogenase family, member 11							157	158	158					3																	132297650		2203	4300	6503	SO:0001589	frameshift_variant	84129							g.chr3:132297650delA	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1764delT	3.37:g.132297650delA	ENSP00000264990:p.Phe588fs					ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Frame_Shift_Del_p.F113fs	p.F588fs	NM_032169.4	NP_115545.3					15	2735	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Frame_Shift_Del	DEL	ENST00000264990.6	37	c.1764delT	CCDS3074.1																																																																																				0.363	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		7	711						7	711	---	---	---	---	-	132297650	A	-	132297650	7	5	97	1	0	1	0	1	0	0	0	0	109	127	5	0	602	0	ACAD11	3	132297650	Frame_Shift_Del	DEL	A	TCGA-IB-AAUR-01A-21D-A38G-08	4883693	132297650	65724780	22	34439											
MECOM	2122	broad.mit.edu	37	chr3	168818719	168818719	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagtgccgtgttaggtTtgcagaccttggaaaaatct	10	8	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:168818719T>C	ENST00000464456.1	-	10	3412	c.2212A>G	c.(2212-2214)Aac>Gac	p.N738D	MECOM_ENST00000460814.1_Missense_Mutation_p.N738D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000468789.1_Missense_Mutation_p.N747D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D|MECOM_ENST00000472280.1_Missense_Mutation_p.N748D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTGTTAGGTTTGCAGACCTT	0.368																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2212-2214)Aac>Gac		MDS1 and EVI1 complex locus							83	82	83					3																	168818719		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168818719T>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2212A>G	3.37:g.168818719T>C	ENSP00000419770:p.Asn738Asp					MECOM_ENST00000472280.1_Missense_Mutation_p.N748D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D|MECOM_ENST00000468789.1_Missense_Mutation_p.N747D|MECOM_ENST00000460814.1_Missense_Mutation_p.N738D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D	p.N738D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			10	3412	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2212A>G	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301710	0.60195	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.55	5.55	0.83447	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	0.15522	0.0374	N	0.16016	0.355	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.563;0.999;0.999;0.999	D;P;D;D;D	0.80764	0.993;0.502;0.994;0.988;0.981	T	0.14755	-1.0461	10	0.52906	T	0.07	-13.5136	15.7017	0.77547	0.0:0.0:0.0:1.0	.	935;739;926;812;747	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	812;747;738;748;926;747;738;748	ENSP00000264674:N812D;ENSP00000376493:N747D;ENSP00000419770:N738D;ENSP00000420048:N748D;ENSP00000417899:N926D;ENSP00000419995:N747D;ENSP00000420466:N738D;ENSP00000394302:N748D	ENSP00000264674:N812D	N	-	1	0	MECOM	170301413	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	AAC		0.368	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		7	274	0	0	0	1	0	7	274					C	168818719	T	C	168818719	3	2	97	1	0	0	0	0	1	0	0	0	9463	1841	64	4	940	4	MECOM	3	168818719	Missense_Mutation	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08	36521069	168818719	29203711	23	34440											
PCYT1A	5130	broad.mit.edu	37	chr3	195966549	195966549	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttgacttttcctccaCatctttcactttcttcttta	1	12	5	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:195966549C>T	ENST00000292823.2	-	9	938	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	PCYT1A_ENST00000431016.1_Missense_Mutation_p.V256M|PCYT1A_ENST00000419333.1_Missense_Mutation_p.V256M	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	256	3 X 11 AA approximate tandem repeats.|Amphipathic. {ECO:0000255}.				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)	TTTTCCTCCACATCTTTCACT	0.383																																						ENST00000292823.2																			0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(766-768)Gtg>Atg		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						213	207	209					3																	195966549		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195966549C>T	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.766G>A	3.37:g.195966549C>T	ENSP00000292823:p.Val256Met					PCYT1A_ENST00000419333.1_Missense_Mutation_p.V256M|PCYT1A_ENST00000431016.1_Missense_Mutation_p.V256M	p.V256M	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	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)	9	938	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		256			3 X 11 AA approximate tandem repeats.|Amphipathic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.766G>A	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187860	0.57909	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.65975	2.015	0.80722	D	1	D	0.54772	0.968	P	0.50231	0.635	T	0.72033	-0.4412	9	0.52906	T	0.07	-30.0716	19.545	0.95291	0.0:1.0:0.0:0.0	.	256	P49585	PCY1A_HUMAN	M	256;256;217;256;256	.	ENSP00000292823:V256M	V	-	1	0	PCYT1A	197450946	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GTG		0.383	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		5	432	0	0	0	1	0	5	432					T	195966549	C	T	195966549	3	4	97	1	0	0	0	0	1	0	0	0	11652	478	17	2	345	2	PCYT1A	3	195966549	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	27147830	195966549	2055881	24	34441											
PPP2R2C	5522	broad.mit.edu	37	chr4	6383543	6383543	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctggccttcctggatggGcaagtgtttggagaaaaaag	16	6	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:6383543G>A	ENST00000382599.4	-	2	287				PPP2R2C_ENST00000335585.5_Missense_Mutation_p.P11S|PPP2R2C_ENST00000515571.1_Intron|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma						regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCTGGATGGGCAAGTGTTTG	0.527																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(31-33)Ccc>Tcc		protein phosphatase 2, regulatory subunit B, gamma							109	113	112					4																	6383543		2203	4300	6503	SO:0001627	intron_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6383543G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.71-722C>T	4.37:g.6383543G>A						PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000382599.4_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000515571.1_Intron|PPP2R2C_ENST00000314348.8_Intron	p.P11S	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			1	54	-			0					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.31C>T		.	.	.	.	.	.	.	.	.	.	G	2.380	-0.342224	0.05243	.	.	ENSG00000074211	ENST00000335585	T	0.28895	1.59	1.56	1.56	0.23342	.	.	.	.	.	T	0.12860	0.0312	.	.	.	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	8	0.08179	T	0.78	.	6.5765	0.22569	0.0:0.0:1.0:0.0	.	11	Q9Y2T4-2	.	S	11	ENSP00000335083:P11S	ENSP00000335083:P11S	P	-	1	0	PPP2R2C	6434444	0.024000	0.19004	0.061000	0.19648	0.019000	0.09904	0.470000	0.22084	1.194000	0.43101	0.561000	0.74099	CCC		0.527	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		7	487	0	0	0	1	0	7	487					A	6383543	G	A	6383543	1	1	97	0	1	0	0	0	0	0	0	0	12433	1203	42	2		2	PPP2R2C	4	6383543	Intron	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		6383543	184770733	25	34442											
NCAPG	64151	broad.mit.edu	37	chr4	17844989	17844989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taccaagacgagccaaaaccGcagcactagaaaaaagtaaa	7	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:17844989G>A	ENST00000251496.2	+	21	3165	c.2989G>A	c.(2989-2991)Gca>Aca	p.A997T	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	997					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)		AGCCAAAACCGCAGCACTAGA	0.368																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2989-2991)Gca>Aca		non-SMC condensin I complex, subunit G							101	109	106					4																	17844989		2203	4299	6502	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17844989G>A	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.2989G>A	4.37:g.17844989G>A	ENSP00000251496:p.Ala997Thr					LCORL_ENST00000326877.3_3'UTR	p.A997T	NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	21	3165	+			997					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2989G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029780	0.93518	.	.	ENSG00000109805	ENST00000251496	T	0.47869	0.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.65233	0.933	T	0.66850	-0.5819	10	0.59425	D	0.04	-20.6171	17.0447	0.86499	0.0:0.0:0.8724:0.1276	.	997	Q9BPX3	CND3_HUMAN	T	997	ENSP00000251496:A997T	ENSP00000251496:A997T	A	+	1	0	NCAPG	17454087	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.104000	0.41815	2.937000	0.99478	0.650000	0.86243	GCA		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		7	626	0	0	0	1	0	7	626					A	17844989	G	A	17844989	3	1	97	1	0	0	0	0	1	0	0	0	10249	1087	38	1	3071	1	NCAPG	4	17844989	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	11461446	17844989	173309287	26	34443											
DCK	1633	broad.mit.edu	37	chr4	71888175	71888175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttaccttccaaacatatgCctgtctcagtcgaataagag	6	10	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:71888175C>T	ENST00000286648.5	+	3	696	c.299C>T	c.(298-300)gCc>gTc	p.A100V	DCK_ENST00000504730.1_Missense_Mutation_p.A100V|DCK_ENST00000504952.1_Missense_Mutation_p.A100V	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	100					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)	CAAACATATGCCTGTCTCAGT	0.393																																						ENST00000286648.5																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(298-300)gCc>gTc		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						129	127	128					4																	71888175		2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71888175C>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.299C>T	4.37:g.71888175C>T	ENSP00000286648:p.Ala100Val					DCK_ENST00000504952.1_Missense_Mutation_p.A100V|DCK_ENST00000504730.1_Missense_Mutation_p.A100V	p.A100V	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	Lung(101;0.235)		3	696	+			100					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.299C>T	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658712	0.88154	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.93906	-3.31;-3.31;-3.31	5.83	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.92878	0.6320	9	.	.	.	.	16.0576	0.80816	0.1352:0.8648:0.0:0.0	.	100	P27707	DCK_HUMAN	V	100	ENSP00000286648:A100V;ENSP00000425578:A100V;ENSP00000421508:A100V	.	A	+	2	0	DCK	72107039	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.404000	0.46819	0.563000	0.77884	GCC		0.393	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			5	491	0	0	0	1	0	5	491					T	71888175	C	T	71888175	3	4	97	1	0	0	0	0	1	0	0	0	4301	739	26	2	309	2	DCK	4	71888175	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	54043186	71888175	119266101	27	34444											
KIAA1109	84162	broad.mit.edu	37	chr4	123165028	123165029	+	Frame_Shift_Ins	INS	-	-	A													tacgccgtatactccattggINSaaaaaaaactcgctgataac							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:123165028_123165029insA	ENST00000264501.4	+	31	5135_5136	c.4762_4763insA	c.(4762-4764)gaafs	p.E1588fs	KIAA1109_ENST00000388738.3_Frame_Shift_Ins_p.E1588fs|KIAA1109_ENST00000455637.1_Frame_Shift_Ins_p.E1588fs			Q2LD37	K1109_HUMAN	KIAA1109	1588					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						TACTCCATTGGAAAAAAAACTC	0.381																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(4762-4764)aaafs		KIAA1109																																				SO:0001589	frameshift_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123165028_123165029insA	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.4770dupA	4.37:g.123165036_123165036dupA	ENSP00000264501:p.Glu1588fs					KIAA1109_ENST00000388738.3_Frame_Shift_Ins_p.K1588fs|KIAA1109_ENST00000455637.1_Frame_Shift_Ins_p.K1588fs	p.K1588fs			Q2LD37	K1109_HUMAN			31	5135_5136	+			1588					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Frame_Shift_Ins	INS	ENST00000264501.4	37	c.4762_4763insA	CCDS43267.1																																																																																				0.381	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		8	416						8	416	---	---	---	---	A	123165029	-	A	123165028	7	5	97	1	0	1	1	0	0	0	0	0	8238	1175	41	0	4876	0	KIAA1109	4	123165028	Frame_Shift_Ins	INS	-	TCGA-IB-AAUR-01A-21D-A38G-08	51276853	123165028	67989248	28	34445											
SMARCA5	8467	broad.mit.edu	37	chr4	144465945	144465945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaaaagccaactatgCcgttgatgcatatttcaggg	10	7	1	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:144465945C>T	ENST00000283131.3	+	17	2690	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	743					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)					GCCAACTATGCCGTTGATGCA	0.378																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2227-2229)gCc>gTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							153	146	148					4																	144465945		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144465945C>T	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.2228C>T	4.37:g.144465945C>T	ENSP00000283131:p.Ala743Val						p.A743V	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			17	2690	+	all_hematologic(180;0.158)		743						Missense_Mutation	SNP	ENST00000283131.3	37	c.2228C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822060	0.96989	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91237	-2.81	5.8	5.8	0.92144	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	M	0.83312	2.635	0.80722	D	1	P	0.39157	0.662	P	0.47346	0.544	D	0.93056	0.6470	10	0.45353	T	0.12	-13.608	20.058	0.97661	0.0:1.0:0.0:0.0	.	743	O60264	SMCA5_HUMAN	V	743;686;686	ENSP00000283131:A743V	ENSP00000283131:A743V	A	+	2	0	SMARCA5	144685395	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.737000	0.84957	2.752000	0.94435	0.655000	0.94253	GCC		0.378	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			5	425	0	0	0	1	0	5	425					T	144465945	C	T	144465945	3	4	97	1	0	0	0	0	1	0	0	0	14821	739	26	2	2294	2	SMARCA5	4	144465945	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	21300917	144465945	46688331	29	34446											
ZNF366	167465	broad.mit.edu	37	chr5	71756620	71756620	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcatcgatctgcacgTtcacgtccaccctctccacc	6	18	4	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:71756620T>C	ENST00000318442.5	-	2	1194	c.704A>G	c.(703-705)aAc>aGc	p.N235S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	235					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GATCTGCACGTTCACGTCCAC	0.632																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(703-705)aAc>aGc		zinc finger protein 366							135	130	132					5																	71756620		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756620T>C	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.704A>G	5.37:g.71756620T>C	ENSP00000313158:p.Asn235Ser						p.N235S	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1194	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	235					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.704A>G	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608532	0.46527	.	.	ENSG00000178175	ENST00000318442	T	0.08370	3.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	L	0.42686	1.345	0.47276	D	0.999379	P	0.43750	0.816	B	0.32762	0.152	T	0.12268	-1.0554	10	0.45353	T	0.12	-66.6731	16.3979	0.83621	0.0:0.0:0.0:1.0	.	235	Q8N895	ZN366_HUMAN	S	235	ENSP00000313158:N235S	ENSP00000313158:N235S	N	-	2	0	ZNF366	71792376	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.472000	0.53114	2.279000	0.76181	0.459000	0.35465	AAC		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			11	503	0	0	0	1	0	11	503					C	71756620	T	C	71756620	3	2	97	1	0	0	0	0	1	0	0	0	17923	1725	60	4	1546	4	ZNF366	5	71756620	Missense_Mutation	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08		71756620	109158640	30	34447											
ARAP3	64411	broad.mit.edu	37	chr5	141053229	141053229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcgtgaggcggtctgccGtgaaggagaagctggcatag	20	7	1	3	rs149350776	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:141053229G>A	ENST00000239440.4	-	5	910	c.845C>T	c.(844-846)aCg>aTg	p.T282M	ARAP3_ENST00000513878.1_5'Flank|ARAP3_ENST00000508305.1_Missense_Mutation_p.T204M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	282					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						GCGGTCTGCCGTGAAGGAGAA	0.607													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		15589	0.0		0.001	False		,,,				2504	0.0					ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(844-846)aCg>aTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3		G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	156	156	156		845	2.8	0.9	5	dbSNP_134	156	0,8600		0,0,4300	yes	missense	ARAP3	NM_022481.5	81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	282/1545	141053229	4,13002	2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141053229G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.845C>T	5.37:g.141053229G>A	ENSP00000239440:p.Thr282Met					ARAP3_ENST00000508305.1_Missense_Mutation_p.T204M	p.T282M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			5	910	-			282					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.845C>T	CCDS4266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.85	2.359944	0.41801	9.08E-4	0.0	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.18338	2.49;3.19;2.22	4.87	2.79	0.32731	.	0.832410	0.10688	N	0.645579	T	0.09423	0.0232	L	0.29908	0.895	0.80722	D	1	P;B	0.42584	0.784;0.154	B;B	0.33454	0.164;0.015	T	0.23154	-1.0196	10	0.32370	T	0.25	.	4.4043	0.11402	0.4754:0.0:0.5246:0.0	.	204;282	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	M	201;204;282;282	ENSP00000421826:T204M;ENSP00000239440:T282M;ENSP00000421148:T282M	ENSP00000239440:T282M	T	-	2	0	ARAP3	141033413	0.991000	0.36638	0.904000	0.35570	0.039000	0.13416	2.662000	0.46766	1.040000	0.40099	0.557000	0.71058	ACG		0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		11	552	0	0	0	1	0	11	552					A	141053229	G	A	141053229	3	1	97	1	0	0	0	0	1	0	0	0	840	1145	40	1	3905	1	ARAP3	5	141053229	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	69296609	141053229	39862031	31	34448											
NSD1	64324	broad.mit.edu	37	chr5	176687011	176687011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggttgatgcgctgtgtccGctgtcctgtggcataccacg	13	12	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:176687011G>A	ENST00000439151.2	+	14	5033	c.4988G>A	c.(4987-4989)cGc>cAc	p.R1663H	NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1663					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)		CGCTGTGTCCGCTGTCCTGTG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4987-4989)cGc>cAc		nuclear receptor binding SET domain protein 1							132	122	125					5																	176687011		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687011G>A	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.4988G>A	5.37:g.176687011G>A	ENSP00000395929:p.Arg1663His	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H	p.R1663H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5033	+	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)	1663					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4988G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530693	0.96446	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.68	5.68	0.88126	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000002	D	0.98065	0.9362	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98376	1.0556	10	0.72032	D	0.01	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	1394;1560;1663	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	1394;1663;1394;1560	ENSP00000346111:R1394H;ENSP00000395929:R1663H;ENSP00000343209:R1394H;ENSP00000354310:R1560H	ENSP00000343209:R1394H	R	+	2	0	NSD1	176619617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	CGC		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		6	590	0	0	0	1	0	6	590					A	176687011	G	A	176687011	3	1	97	1	0	0	0	0	1	0	0	0	10711	1087	38	1	5038	1	NSD1	5	176687011	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	35633782	176687011	4228249	32	34449											
BTNL8	79908	broad.mit.edu	37	chr5	180374580	180374580	+	Frame_Shift_Del	DEL	T	T	-													gaatactctgctgtggcctaTtttttggcattgttggactg							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:180374580delT	ENST00000340184.4	+	4	948	c.742delT	c.(742-744)tttfs	p.F249fs	BTNL8_ENST00000400707.3_Frame_Shift_Del_p.F124fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000533815.2_Frame_Shift_Del_p.F65fs|BTNL8_ENST00000231229.4_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000511704.1_Frame_Shift_Del_p.F133fs|BTNL8_ENST00000505126.1_Frame_Shift_Del_p.F42fs	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	249					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGCCTATTTTTTGGCAT	0.448																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(742-744)ttfs		butyrophilin-like 8							233	242	239					5																	180374580		2203	4296	6499	SO:0001589	frameshift_variant	79908					integral to membrane		g.chr5:180374580delT	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.742delT	5.37:g.180374580delT	ENSP00000342197:p.Phe249fs					BTNL8_ENST00000508408.1_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000511704.1_Frame_Shift_Del_p.F133fs|BTNL8_ENST00000340184.4_Frame_Shift_Del_p.F249fs|BTNL8_ENST00000533815.2_Frame_Shift_Del_p.F65fs|BTNL8_ENST00000505126.1_Frame_Shift_Del_p.F42fs|BTNL8_ENST00000400707.3_Frame_Shift_Del_p.F124fs	p.F249fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	976	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	249					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	c.742delT	CCDS43413.1																																																																																				0.448	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		10	1922						10	1922	---	---	---	---	-	180374580	T	-	180374580	7	5	97	1	0	1	0	1	0	0	0	0	1571	1493	52	0	782	0	BTNL8	5	180374580	Frame_Shift_Del	DEL	T	TCGA-IB-AAUR-01A-21D-A38G-08	3687569	180374580	540680	33	34450											
PRSS16	10279	broad.mit.edu	37	chr6	27220639	27220639	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcttttcccgagcagagaCagtggcacagctgaggagca	13	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27220639C>A	ENST00000230582.3	+	9	1076	c.1061C>A	c.(1060-1062)aCa>aAa	p.T354K	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	354					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						CGAGCAGAGACAGTGGCACAG	0.498																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1060-1062)aCa>aAa		protease, serine, 16 (thymus)							201	160	174					6																	27220639		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27220639C>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"Serine peptidases / Serine peptidases"	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1061C>A	6.37:g.27220639C>A	ENSP00000230582:p.Thr354Lys					PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K|PRSS16_ENST00000377456.2_Intron	p.T354K	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN			9	1076	+			354					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1061C>A	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.081016|4.081016	0.76528|0.76528	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582;ENST00000343467	.|T;T	.|0.14391	.|2.51;2.51	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	.|0.320491	.|0.32624	.|N	.|0.005844	T|T	0.23926|0.23926	0.0579|0.0579	M|M	0.68952|0.68952	2.095|2.095	0.39874|0.39874	D|D	0.973543|0.973543	.|P;D;D;D	.|0.65815	.|0.77;0.991;0.995;0.991	.|P;D;D;P	.|0.78314	.|0.481;0.991;0.91;0.812	T|T	0.01042|0.01042	-1.1471|-1.1471	6|10	0.56958|0.29301	D|T	0.05|0.29	-1.3456|-1.3456	14.8717|14.8717	0.70462|0.70462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;241;97;354	.|Q7Z5N6;C9JI59;F2Z2N5;Q9NQE7	.|.;.;.;TSSP_HUMAN	E|K	106;132|97;354;241	.|ENSP00000404349:T97K;ENSP00000230582:T354K	ENSP00000396589:D130E|ENSP00000230582:T354K	D|T	+|+	3|2	2|0	PRSS16|PRSS16	27328618|27328618	0.898000|0.898000	0.30612|0.30612	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.181000|1.181000	0.32017|0.32017	2.451000|2.451000	0.82905|0.82905	0.563000|0.563000	0.77884|0.77884	GAC|ACA		0.498	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			10	469	1	0	7.48243e-07	1	7.85042e-07	10	469					A	27220639	C	A	27220639	3	1	97	1	0	0	0	0	1	0	0	0	12663	478	17	3	1095	3	PRSS16	6	27220639	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		27220639	143894428	34	34451											
ZNF391	346157	broad.mit.edu	37	chr6	27369145	27369145	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcataccggggagaagccGtacaaatgtaatgactgtgg	12	8	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27369145G>A	ENST00000244576.4	+	3	1541	c.996G>A	c.(994-996)ccG>ccA	p.P332P	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	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)|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						GGGAGAAGCCGTACAAATGTA	0.423																																						ENST00000244576.4																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(994-996)ccG>ccA		zinc finger protein 391							57	60	59					6																	27369145		2024	4227	6251	SO:0001819	synonymous_variant	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27369145G>A	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.996G>A	6.37:g.27369145G>A							p.P332P	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN			3	1541	+			332					B4DH77	Silent	SNP	ENST00000244576.4	37	c.996G>A	CCDS43429.1																																																																																				0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		5	341	0	0	0	1	0	5	341					A	27369145	G	A	27369145	2	1	97	1	0	0	0	0	0	0	0	1	17932	1132	40	1		1	ZNF391	6	27369145	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	148506	27369145	143745922	35	34452											
TMEM30A	55754	broad.mit.edu	37	chr6	75974982	75974982	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atctccatttagttgactatCatctcgagatttcacgtaac	5	10	4	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:75974982C>G	ENST00000230461.6	-	3	747	c.418G>C	c.(418-420)Gat>Cat	p.D140H	TMEM30A_ENST00000475111.2_Missense_Mutation_p.D104H|TMEM30A_ENST00000370050.5_Missense_Mutation_p.D21H	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	140					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						AGTTGACTATCATCTCGAGAT	0.313																																						ENST00000230461.6																			0				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						c.(418-420)Gat>Cat		transmembrane protein 30A							79	76	77					6																	75974982		2203	4300	6503	SO:0001583	missense	55754					integral to membrane		g.chr6:75974982C>G	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.418G>C	6.37:g.75974982C>G	ENSP00000230461:p.Asp140His					TMEM30A_ENST00000370050.5_Missense_Mutation_p.D21H|TMEM30A_ENST00000475111.2_Missense_Mutation_p.D104H	p.D140H	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN			3	747	-			140					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	c.418G>C	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267513	0.95399	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111;ENST00000518161	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.986;0.995	T	0.81690	-0.0818	9	0.62326	D	0.03	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	104;140	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	H	140;124;21;104;21	.	ENSP00000230461:D140H	D	-	1	0	TMEM30A	76031702	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.719000	0.84751	2.850000	0.98022	0.650000	0.86243	GAT		0.313	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247		4	204	0	0	0	1	0	4	204					G	75974982	C	G	75974982	3	3	97	1	0	0	0	0	1	0	0	0	16205	826	29	5	687	5	TMEM30A	6	75974982	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	48605837	75974982	95140085	36	34453											
ZDHHC14	79683	broad.mit.edu	37	chr6	158049518	158049518	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttatcacccacgtcattcttCgtaagtatgctggcgaaatc	7	11	3	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:158049518C>T	ENST00000359775.5	+	4	1592	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Splice_Site_p.R235C			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	235					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGTCATTCTTCGTAAGTATGC	0.328																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.e4+1		zinc finger, DHHC-type containing 14							145	155	152					6																	158049518		2203	4296	6499	SO:0001630	splice_region_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158049518C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.703+1C>T	6.37:g.158049518C>T						ZDHHC14_ENST00000414563.2_Splice_Site_p.R235_splice|ZDHHC14_ENST00000341375.8_3'UTR	p.R235_splice			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	4	1592	+		Breast(66;0.00586)|Ovarian(120;0.123)	235					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Splice_Site	SNP	ENST00000359775.5	37	c.703_splice	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874414	0.51695	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.24723	1.84;1.84	5.56	5.56	0.83823	.	0.470158	0.24506	N	0.037940	T	0.15955	0.0384	L	0.41824	1.3	0.80722	D	1	B;B;B	0.28419	0.211;0.211;0.111	B;B;B	0.31547	0.086;0.132;0.03	T	0.02933	-1.1092	10	0.35671	T	0.21	-6.7738	19.5349	0.95247	0.0:1.0:0.0:0.0	.	239;235;235	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	C	235;235;239	ENSP00000352821:R235C;ENSP00000410713:R235C	ENSP00000352821:R235C	R	+	1	0	ZDHHC14	157969506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	2.618000	0.88619	0.561000	0.74099	CGT		0.328	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746	Missense_Mutation	39	1917	0	0	0	1	0	39	1917					T	158049518	C	T	158049518	5	4	97	1	0	0	0	0	0	0	1	0	17657	898	31	1	717	1	ZDHHC14	6	158049518	Splice_Site	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	82074536	158049518	13065549	37	34454											
INMT	11185	broad.mit.edu	37	chr7	30795239	30795239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccttgcctcactgctcaaGccgggtggccacctggtgac	11	15	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:30795239G>A	ENST00000013222.5	+	3	580	c.564G>A	c.(562-564)aaG>aaA	p.K188K	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.K187K	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	188					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CACTGCTCAAGCCGGGTGGCC	0.627																																						ENST00000013222.5																			0				kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						c.(562-564)aaG>aaA		indolethylamine N-methyltransferase							115	98	104					7																	30795239		2203	4300	6503	SO:0001819	synonymous_variant	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30795239G>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.564G>A	7.37:g.30795239G>A						INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Silent_p.K187K	p.K188K	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN			3	580	+			188					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.564G>A	CCDS5430.1																																																																																				0.627	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	NM_006774		13	345	0	0	0	1	0	13	345					A	30795239	G	A	30795239	2	1	97	1	0	0	0	0	0	0	0	1	7775	962	34	2		2	INMT	7	30795239	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		30795239	128343424	38	34455											
TFPI2	7980	broad.mit.edu	37	chr7	93518519	93518519	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacactcacttgcagccgGcaaactttgggaacttctag	8	13	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:93518519G>A	ENST00000222543.5	-	3	600	c.288C>T	c.(286-288)tgC>tgT	p.C96C	AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Intron|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	96	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398																																						ENST00000222543.5																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(286-288)tgC>tgT		tissue factor pathway inhibitor 2							58	69	66					7																	93518519		2202	4299	6501	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93518519G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.288C>T	7.37:g.93518519G>A						GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	p.C96C	NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	600	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		96			BPTI/Kunitz inhibitor 2.		Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.288C>T	CCDS5632.1																																																																																				0.398	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528		5	484	0	0	0	1	0	5	484					A	93518519	G	A	93518519	2	1	97	1	0	0	0	0	0	0	0	1	15861	1195	42	2		2	TFPI2	7	93518519	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	62723280	93518519	65620144	39	34456											
UBN2	254048	broad.mit.edu	37	chr7	138969039	138969039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccaccttgaatttattgCcctctagtcgcacttcaggc	6	15	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:138969039C>T	ENST00000473989.3	+	15	3388	c.3388C>T	c.(3388-3390)Ccc>Tcc	p.P1130S	UBN2_ENST00000288561.8_Missense_Mutation_p.P1047S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1130	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						GAATTTATTGCCCTCTAGTCG	0.493																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3139-3141)Ccc>Tcc		ubinuclein 2							72	74	74					7																	138969039		1980	4159	6139	SO:0001583	missense	254048							g.chr7:138969039C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3388C>T	7.37:g.138969039C>T	ENSP00000418648:p.Pro1130Ser					UBN2_ENST00000473989.2_Missense_Mutation_p.P1130S	p.P1047S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			15	3388	+			1130			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3139C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027987	0.35797	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36157	1.38;1.27	5.51	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.36672	1.1	0.41266	D	0.986812	P	0.38677	0.642	B	0.40982	0.345	T	0.06075	-1.0847	10	0.27785	T	0.31	-0.8259	12.5763	0.56365	0.0:0.8615:0.0:0.1385	.	1130	Q6ZU65	UBN2_HUMAN	S	1130;1047	ENSP00000418648:P1130S;ENSP00000288561:P1047S	ENSP00000288561:P1047S	P	+	1	0	UBN2	138619579	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.045000	0.41250	1.473000	0.48159	-0.259000	0.10710	CCC		0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		4	248	0	0	0	1	0	4	248					T	138969039	C	T	138969039	3	4	97	1	0	0	0	0	1	0	0	0	16947	739	26	2	3446	2	UBN2	7	138969039	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	45450520	138969039	20169624	40	34457											
LPL	4023	broad.mit.edu	37	chr8	19811679	19811679	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatgcagaagccccgagtcGtctttctcctgatgatgcag	11	11	2	3	rs372668179		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:19811679G>A	ENST00000311322.8	+	5	1060	c.590G>A	c.(589-591)cGt>cAt	p.R197H		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	197					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)	GCCCCGAGTCGTCTTTCTCCT	0.458																																						ENST00000311322.8																			0				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	GRCh37	CM034045	LPL	M		c.(589-591)cGt>cAt		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	G	HIS/ARG	0,4406		0,0,2203	135	130	131		590	6.2	1	8		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPL	NM_000237.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	197/476	19811679	1,13005	2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811679G>A		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.590G>A	8.37:g.19811679G>A	ENSP00000309757:p.Arg197His						p.R197H	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1060	+			197					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.590G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778409	0.70107	0.0	1.16E-4	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.93307	-3.2	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.226102	0.47852	D	0.000212	D	0.96078	0.8722	M	0.76002	2.32	0.30091	N	0.808285	D	0.89917	1.0	D	0.76575	0.988	D	0.95786	0.8821	8	.	.	.	-23.5122	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	197	P06858	LIPL_HUMAN	H	197;121;183	ENSP00000309757:R197H	.	R	+	2	0	LPL	19855959	0.996000	0.38824	0.997000	0.53966	0.428000	0.31595	3.031000	0.49728	2.941000	0.99782	0.655000	0.94253	CGT		0.458	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			7	508	0	0	0	1	0	7	508					A	19811679	G	A	19811679	3	1	97	1	0	0	0	0	1	0	0	0	8959	1145	40	1	608	1	LPL	8	19811679	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		19811679	126552343	41	34458											
WRN	7486	broad.mit.edu	37	chr8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcccccagctattctgGcaacaaacaagatactggtg	8	11	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1179	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				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)		AGCTATTCTGGCAACAAACAA	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3535-3537)Gca>Aca	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							97	98	98					8																	31004955		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31004955G>A		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.3535G>A	8.37:g.31004955G>A	ENSP00000298139:p.Ala1179Thr						p.A1179T	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	30	3784	+		Breast(100;0.195)	1179			HRDC.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3535G>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767242	0.90020	.	.	ENSG00000165392	ENST00000298139	T	0.51574	0.7	4.97	4.97	0.65823	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	M	0.77820	2.39	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74697	-0.3578	10	0.66056	D	0.02	-18.4415	18.1847	0.89789	0.0:0.0:1.0:0.0	.	589;1179	Q59F09;Q14191	.;WRN_HUMAN	T	1179	ENSP00000298139:A1179T	ENSP00000298139:A1179T	A	+	1	0	WRN	31124497	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.519000	0.81809	2.459000	0.83118	0.655000	0.94253	GCA		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			5	416	0	0	0	1	0	5	416					A	31004955	G	A	31004955	3	1	97	1	0	0	0	0	1	0	0	0	17456	1203	42	2	3649	2	WRN	8	31004955	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	11193276	31004955	115359067	42	34459											
ADCY8	114	broad.mit.edu	37	chr8	132052268	132052268	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgggaagactttggtgccGcaggtgctgtgcgctcgctc	15	12	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:132052268G>A	ENST00000286355.5	-	1	2404	c.312C>T	c.(310-312)tgC>tgT	p.C104C	ADCY8_ENST00000377928.3_Silent_p.C104C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	104					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)			CTTTGGTGCCGCAGGTGCTGT	0.731										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(310-312)tgC>tgT		adenylate cyclase 8 (brain)							5	6	6					8																	132052268		2147	4223	6370	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132052268G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.312C>T	8.37:g.132052268G>A		HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Silent_p.C104C	p.C104C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2404	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		104						Silent	SNP	ENST00000286355.5	37	c.312C>T	CCDS6363.1																																																																																				0.731	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			3	22	0	0	0	1	0	3	22					A	132052268	G	A	132052268	2	1	97	1	0	0	0	0	0	0	0	1	300	1079	38	1		1	ADCY8	8	132052268	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	101047313	132052268	14311754	43	34460											
KIAA0020	9933	broad.mit.edu	37	chr9	2837296	2837296	+	Frame_Shift_Del	DEL	T	T	-													tcttgaactgctttacacccTttttcccaagttttgtgata							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:2837296delT	ENST00000397885.2	-	3	394	c.188delA	c.(187-189)aagfs	p.K63fs		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)agfs		KIAA0020							259	237	244					9																	2837296		1837	4098	5935	SO:0001589	frameshift_variant	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296delT	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188delA	9.37:g.2837296delT	ENSP00000380982:p.Lys63fs						p.K63fs	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	3	394	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Frame_Shift_Del	DEL	ENST00000397885.2	37	c.188delA	CCDS6448.2																																																																																				0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		8	1346						8	1346	---	---	---	---	-	2837296	T	-	2837296	7	5	97	1	0	1	0	1	0	0	0	0	8182	1609	56	0	1822	0	KIAA0020	9	2837296	Frame_Shift_Del	DEL	T	TCGA-IB-AAUR-01A-21D-A38G-08		2837296	138376135	44	34461											
C9orf5	23731	broad.mit.edu	37	chr9	111822709	111822709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacagcagtattgttcacCttatctcctagaattttatg	5	8	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:111822709C>T	ENST00000374586.3	-	11	1678	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	549						integral component of membrane (GO:0016021)											TATTGTTCACCTTATCTCCTA	0.338																																						ENST00000374586.3																			0											c.(1645-1647)aaG>aaA		transmembrane protein 245							124	126	126					9																	111822709		1828	4081	5909	SO:0001819	synonymous_variant	23731					integral to membrane		g.chr9:111822709C>T	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1647G>A	9.37:g.111822709C>T							p.K549K	NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN			11	1678	-			549					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	c.1647G>A	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	C	9.154	1.016895	0.19355	.	.	ENSG00000106771	ENST00000413712	.	.	.	6.05	1.75	0.24633	.	.	.	.	.	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52411	-0.8579	4	.	.	.	-13.5055	9.6538	0.39914	0.0:0.5978:0.0:0.4022	.	.	.	.	S	142	.	.	G	-	1	0	C9orf5	110862530	0.997000	0.39634	0.985000	0.45067	0.922000	0.55478	0.488000	0.22371	0.460000	0.27045	-0.143000	0.13931	GGT		0.338	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		8	660	0	0	0	1	0	8	660					T	111822709	C	T	111822709	2	4	97	1	0	0	0	0	0	0	0	1	2493	680	24	2		2	C9orf5	9	111822709	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	108985413	111822709	29390722	45	34462											
ZBTB26	57684	broad.mit.edu	37	chr9	125681075	125681075	+	Frame_Shift_Del	DEL	T	T	-													cattggcattatcaaagctgTttttgccatgcagctgttta							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:125681075delT	ENST00000373656.3	-	2	1212	c.1139delA	c.(1138-1140)aacfs	p.N380fs	ZBTB26_ENST00000373654.1_Frame_Shift_Del_p.N380fs	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						ATCAAAGCTGTTTTTGCCATG	0.393																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1138-1140)acfs		zinc finger and BTB domain containing 26							154	154	154					9																	125681075		2203	4300	6503	SO:0001589	frameshift_variant	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681075delT	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.1139delA	9.37:g.125681075delT	ENSP00000362760:p.Asn380fs					ZBTB26_ENST00000373654.1_Frame_Shift_Del_p.N380fs	p.N380fs	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	1212	-			380					B3KQ53|Q8WTR1	Frame_Shift_Del	DEL	ENST00000373656.3	37	c.1139delA	CCDS6847.1																																																																																				0.393	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		8	667						8	667	---	---	---	---	-	125681075	T	-	125681075	7	5	97	1	0	1	0	1	0	0	0	0	17586	1725	60	0	190	0	ZBTB26	9	125681075	Frame_Shift_Del	DEL	T	TCGA-IB-AAUR-01A-21D-A38G-08	13858366	125681075	15532356	46	34463											
GOLGA1	2800	broad.mit.edu	37	chr9	127650555	127650555	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttttctccagaagttgctGctccaagtcctgtttctcct	6	12	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650555G>A	ENST00000373555.4	-	19	2215	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	628					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGAAGTTGCTGCTCCAAGTCC	0.517																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1882-1884)Cag>Tag		golgin A1							338	288	305					9																	127650555		2203	4300	6503	SO:0001587	stop_gained	2800					Golgi cisterna membrane		g.chr9:127650555G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1882C>T	9.37:g.127650555G>A	ENSP00000362656:p.Gln628*						p.Q628*	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			19	2215	-			628					Q5T164|Q8IYZ9	Nonsense_Mutation	SNP	ENST00000373555.4	37	c.1882C>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	41	8.756512	0.98941	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.06	5.06	0.68205	.	0.000000	0.44285	D	0.000466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-8.953	17.7842	0.88532	0.0:0.0:1.0:0.0	.	.	.	.	X	628	.	ENSP00000362656:Q628X	Q	-	1	0	GOLGA1	126690376	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.487000	0.81328	2.523000	0.85059	0.442000	0.29010	CAG		0.517	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		24	1344	0	0	0	1	0	24	1344					A	127650555	G	A	127650555	4	1	97	1	0	0	0	0	0	1	0	0	6580	1328	46	2	441	2	GOLGA1	9	127650555	Nonsense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	1969480	127650555	13562876	47	34464											
GOLGA1	2800	broad.mit.edu	37	chr9	127650651	127650651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttggaagctggaacacagGgtcctgcatggccctcgagg	15	10	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650651G>A	ENST00000373555.4	-	19	2119	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	596					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAACACAGGGTCCTGCATG	0.557																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1786-1788)Cct>Tct		golgin A1							185	149	161					9																	127650651		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127650651G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1786C>T	9.37:g.127650651G>A	ENSP00000362656:p.Pro596Ser						p.P596S	NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			19	2119	-			596					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1786C>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	5.582	0.292267	0.10567	.	.	ENSG00000136935	ENST00000373555	T	0.20598	2.06	4.94	0.655	0.17839	.	1.145650	0.06646	N	0.761924	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37619	-0.9698	10	0.18710	T	0.47	0.154	5.4401	0.16504	0.2873:0.203:0.5096:0.0	.	596	Q92805	GOGA1_HUMAN	S	596	ENSP00000362656:P596S	ENSP00000362656:P596S	P	-	1	0	GOLGA1	126690472	0.003000	0.15002	0.002000	0.10522	0.519000	0.34347	0.484000	0.22308	0.214000	0.20742	0.289000	0.19496	CCT		0.557	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		17	611	0	0	0	1	0	17	611					A	127650651	G	A	127650651	3	1	97	1	0	0	0	0	1	0	0	0	6580	1232	43	2	537	2	GOLGA1	9	127650651	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	96	127650651	13562780	48	34465											
CEL	1056	broad.mit.edu	37	chr9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-													agaggaatatcgcggccttcGggggggaccccaacaacatc							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)gggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					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)		CGCGGCCTTCGGGGGGGACCC	0.642																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(613-615)ggfs		carboxyl ester lipase							95	106	102					9																	135941982		1941	4145	6086	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941982delG	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.613delG	9.37:g.135941982delG	ENSP00000361151:p.Gly206fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	p.G206fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	629	+			203					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.613delG	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			7	760						7	760	---	---	---	---	-	135941982	G	-	135941982	7	5	97	1	0	1	0	1	0	0	0	0	3218	1116	39	0	631	0	CEL	9	135941982	Frame_Shift_Del	DEL	G	TCGA-IB-AAUR-01A-21D-A38G-08	8291331	135941982	5271449	49	34466											
TTC18	118491	broad.mit.edu	37	chr10	75101177	75101179	+	In_Frame_Del	DEL	CTT	CTT	-													ctcaggatggttgagttctcCttcttcttcttcatagggac							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:75101177_75101179delCTT	ENST00000310715.3	-	7	890_892	c.770_772delAAG	c.(769-774)gaagga>gga	p.E257del	TTC18_ENST00000394865.1_In_Frame_Del_p.E257del|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_In_Frame_Del_p.E257del	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		257						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)					TTGAGTTCTCCTTCTTCTTCTTC	0.414																																						ENST00000401621.2																			0				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						c.(769-774)gga>g		tetratricopeptide repeat domain 18																																				SO:0001651	inframe_deletion	118491						binding	g.chr10:75101177_75101179delCTT																												ENST00000310715.3:c.770_772delAAG	10.37:g.75101186_75101188delCTT	ENSP00000310829:p.Glu257del					TTC18_ENST00000394865.1_In_Frame_Del_p.EG257del|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_In_Frame_Del_p.EG257del	p.EG257del			Q5T0N1	TTC18_HUMAN			7	890_892	-	Prostate(51;0.0119)		257					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	In_Frame_Del	DEL	ENST00000310715.3	37	c.770_772delAAG	CCDS7324.3																																																																																				0.414	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	954						7	954	---	---	---	---	-	75101179	CTT	-	75101177	7	5	97	1	0	1	0	1	0	0	0	0	16739	690	24	0	2681	0	TTC18	10	75101177	In_Frame_Del	DEL	CTT	TCGA-IB-AAUR-01A-21D-A38G-08		75101177	60433570	50	34467											
SEC23IP	11196	broad.mit.edu	37	chr10	121691801	121691803	+	In_Frame_Del	DEL	AAG	AAG	-													gaaggtggccaatcagatcaAagaagaagaagaaaagcaag							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:121691801_121691803delAAG	ENST00000369075.3	+	16	2801_2803	c.2729_2731delAAG	c.(2728-2733)aaagaa>aaa	p.E914del	SEC23IP_ENST00000543134.1_In_Frame_Del_p.E703del|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	914	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AATCAGATCAAAGAAGAAGAAGA	0.355																																						ENST00000369075.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36						c.(2728-2733)aaa>a		SEC23 interacting protein																																				SO:0001651	inframe_deletion	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121691801_121691803delAAG	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.2729_2731delAAG	10.37:g.121691810_121691812delAAG	ENSP00000358071:p.Glu914del					SEC23IP_ENST00000543134.1_In_Frame_Del_p.KE699del|SEC23IP_ENST00000475542.1_3'UTR	p.KE910del	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	16	2801_2803	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	910			DDHD.		D3DRD2|Q8IXH5|Q9BUK5	In_Frame_Del	DEL	ENST00000369075.3	37	c.2729_2731delAAG	CCDS7618.1																																																																																				0.355	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			7	350						7	350	---	---	---	---	-	121691803	AAG	-	121691801	7	5	97	1	0	1	0	1	0	0	0	0	14043	14	1	0	2791	0	SEC23IP	10	121691801	In_Frame_Del	DEL	AAG	TCGA-IB-AAUR-01A-21D-A38G-08	46590624	121691801	13842946	51	34468											
MMP21	118856	broad.mit.edu	37	chr10	127461268	127461268	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctaggcgccaggcgtgtGcaaactcctgcccgctccca	10	18	0	0	rs146859109		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:127461268G>A	ENST00000368808.3	-	3	748	c.749C>T	c.(748-750)gCa>gTa	p.A250V		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	250					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CCAGGCGTGTGCAAACTCCTG	0.647																																						ENST00000368808.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(748-750)gCa>gTa		matrix metallopeptidase 21							102	86	92					10																	127461268		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127461268G>A	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"matrix metalloproteinase 21"			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.749C>T	10.37:g.127461268G>A	ENSP00000357798:p.Ala250Val						p.A250V	NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN			3	748	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	250					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.749C>T	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195076	0.94960	.	.	ENSG00000154485	ENST00000368808	T	0.37058	1.22	4.51	4.51	0.55191	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.060133	0.64402	D	0.000004	T	0.70474	0.3228	H	0.95294	3.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80555	-0.1330	10	0.87932	D	0	-15.8357	14.7847	0.69793	0.0:0.0:1.0:0.0	.	250	Q8N119	MMP21_HUMAN	V	250	ENSP00000357798:A250V	ENSP00000357798:A250V	A	-	2	0	MMP21	127451258	1.000000	0.71417	0.942000	0.38095	0.896000	0.52359	7.729000	0.84864	2.350000	0.79820	0.561000	0.74099	GCA		0.647	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1			4	210	0	0	0	1	0	4	210					A	127461268	G	A	127461268	3	1	97	1	0	0	0	0	1	0	0	0	9701	1319	46	2	980	2	MMP21	10	127461268	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	5769467	127461268	8073479	52	34469											
NAALAD2	10003	broad.mit.edu	37	chr11	89868837	89868837	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aaaacatcaaatcatttcttCggtaagtttattttacgtat	4	6	3	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:89868837C>T	ENST00000534061.1	+	2	423	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	NAALAD2_ENST00000525171.1_Splice_Site_p.R65C|NAALAD2_ENST00000321955.4_Splice_Site_p.R65C|NAALAD2_ENST00000375944.3_Splice_Site_p.R65C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	65					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)				ATCATTTCTTCGGTAAGTTTA	0.348																																						ENST00000534061.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.e2+1		N-acetylated alpha-linked acidic dipeptidase 2							85	87	87					11																	89868837		2201	4299	6500	SO:0001630	splice_region_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89868837C>T	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.194+1C>T	11.37:g.89868837C>T						NAALAD2_ENST00000525171.1_Splice_Site_p.R65_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.R65_splice|NAALAD2_ENST00000321955.4_Splice_Site_p.R65_splice	p.R65_splice	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN			2	423	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	65					B3KQR4|Q4KKV4|Q4VAM9	Splice_Site	SNP	ENST00000534061.1	37	c.194_splice	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626242	0.66901	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.50001	0.76;0.96;0.96;0.96;0.96;0.96	5.17	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.87617	2.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.98;0.98;0.965;0.997;0.98	T	0.74372	-0.3687	9	.	.	.	-6.1181	11.0386	0.47816	0.0:0.9137:0.0:0.0863	.	65;65;65;65;65	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	C	65;65;65;65;65;11	ENSP00000431989:R65C;ENSP00000432481:R65C;ENSP00000320083:R65C;ENSP00000435249:R65C;ENSP00000365111:R65C;ENSP00000435670:R11C	.	R	+	1	0	NAALAD2	89508485	0.998000	0.40836	1.000000	0.80357	0.783000	0.44284	1.650000	0.37292	1.425000	0.47237	0.644000	0.83932	CGT		0.348	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	Missense_Mutation	4	208	0	0	0	1	0	4	208					T	89868837	C	T	89868837	5	4	97	1	0	0	0	0	0	0	1	0	10169	898	31	1	199	1	NAALAD2	11	89868837	Splice_Site	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		89868837	45137679	53	34470											
CADM1	23705	broad.mit.edu	37	chr11	115109255	115109255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtaactttcctgtgggGgatcggtatagagctggcaa	15	6	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:115109255G>A	ENST00000452722.3	-	3	409	c.389C>T	c.(388-390)cCc>cTc	p.P130L	CADM1_ENST00000537058.1_Missense_Mutation_p.P130L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000331581.6_Missense_Mutation_p.P130L|CADM1_ENST00000542447.2_Missense_Mutation_p.P130L	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)		TTCCTGTGGGGGATCGGTATA	0.448																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(388-390)cCc>cTc		cell adhesion molecule 1							145	141	143					11																	115109255		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115109255G>A	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.389C>T	11.37:g.115109255G>A	ENSP00000395359:p.Pro130Leu					CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000331581.6_Missense_Mutation_p.P130L|CADM1_ENST00000452722.2_Missense_Mutation_p.P130L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.P130L	p.P130L	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	517	-	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)	130			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.389C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670276|4.670276	0.88348|0.88348	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249	D;D;D;D;D;D|D	0.83506|0.83419	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73|-1.72	5.38|5.38	5.38|5.38	0.77491|0.77491	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87497|0.87497	0.6192|0.6192	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.992;0.999|.	D|D	0.85876|0.85876	0.1419|0.1419	10|8	0.66056|0.41790	D|T	0.02|0.15	.|.	19.3366|19.3366	0.94322|0.94322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;130;131;130;130|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	L|S	130;130;130;130;89;130;97|114	ENSP00000439176:P130L;ENSP00000395359:P130L;ENSP00000439817:P130L;ENSP00000440322:P130L;ENSP00000329797:P130L;ENSP00000439696:P97L|ENSP00000442227:P114S	ENSP00000329797:P130L|ENSP00000442227:P114S	P|P	-|-	2|1	0|0	CADM1|CADM1	114614465|114614465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.222000|9.222000	0.95196|0.95196	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CCC|CCC		0.448	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		12	608	0	0	0	1	0	12	608					A	115109255	G	A	115109255	3	1	97	1	0	0	0	0	1	0	0	0	2573	1232	43	2	971	2	CADM1	11	115109255	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	25240418	115109255	19897261	54	34471											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		15	355	0	0	0	1	0	15	355					G	25398285	C	G	25398285	3	3	97	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		25398285	108453610	55	34472											
STAB2	55576	broad.mit.edu	37	chr12	104048365	104048365	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagcttaaactccatggaggCaaaaagaaggtaaaaattat	8	5	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:104048365C>A	ENST00000388887.2	+	13	1644	c.1440C>A	c.(1438-1440)ggC>ggA	p.G480G	RP11-341G23.2_ENST00000551905.1_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						TCCATGGAGGCAAAAAGAAGG	0.398																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1438-1440)ggC>ggA		stabilin 2							66	65	65					12																	104048365		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104048365C>A	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.1440C>A	12.37:g.104048365C>A							p.G480G	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			13	1644	+			480			FAS1 1.			Silent	SNP	ENST00000388887.2	37	c.1440C>A	CCDS31888.1																																																																																				0.398	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			5	291	1	0	8.12818e-05	1	8.4586e-05	5	291					A	104048365	C	A	104048365	2	1	97	1	0	0	0	0	0	0	0	1	15290	697	25	3		3	STAB2	12	104048365	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	78650080	104048365	29803530	56	34473											
XPO4	64328	broad.mit.edu	37	chr13	21375026	21375026	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcccagcgttttaaaaAccaaacaatatctttgccca	4	12	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr13:21375026A>G	ENST00000255305.6	-	14	1992	c.1921T>C	c.(1921-1923)Ttt>Ctt	p.F641L	XPO4_ENST00000400602.2_Missense_Mutation_p.F641L			Q9C0E2	XPO4_HUMAN	exportin 4	641					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)		CGTTTTAAAAACCAAACAATA	0.378																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1921-1923)Ttt>Ctt		exportin 4							166	155	159					13																	21375026		1821	4086	5907	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21375026A>G	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.1921T>C	13.37:g.21375026A>G	ENSP00000255305:p.Phe641Leu					XPO4_ENST00000255305.6_Missense_Mutation_p.F641L	p.F641L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	14	1956	-		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)	641					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1921T>C	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	31	5.062550	0.93898	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.63744	-0.06;-0.06	5.65	4.46	0.54185	Armadillo-type fold (1);	0.043532	0.85682	D	0.000000	T	0.72755	0.3500	M	0.68593	2.085	0.80722	D	1	P	0.52316	0.952	P	0.57911	0.829	T	0.74572	-0.3621	10	0.62326	D	0.03	-16.6373	12.8954	0.58095	0.8641:0.1359:0.0:0.0	.	641	Q9C0E2	XPO4_HUMAN	L	641;511;641	ENSP00000383444:F641L;ENSP00000255305:F641L	ENSP00000255305:F641L	F	-	1	0	XPO4	20273026	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.855000	0.92236	0.954000	0.37851	-0.316000	0.08728	TTT		0.378	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		10	709	0	0	0	1	0	10	709					G	21375026	A	G	21375026	3	3	97	1	0	0	0	0	1	0	0	0	17500	43	2	4	1574	4	XPO4	13	21375026	Missense_Mutation	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08		21375026	93794852	57	34474											
ACOT4	122970	broad.mit.edu	37	chr14	74058829	74058829	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcgcgctactgcgccgacGcccgcggcgagctggacctg	15	17	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:74058829G>A	ENST00000326303.4	+	1	420	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	56					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CTGCGCCGACGCCCGCGGCGA	0.771																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(166-168)Gcc>Acc		acyl-CoA thioesterase 4							6	6	6					14																	74058829		1943	3762	5705	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74058829G>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.166G>A	14.37:g.74058829G>A	ENSP00000323071:p.Ala56Thr						p.A56T	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	1	420	+			56					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.166G>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	8.751	0.921355	0.17982	.	.	ENSG00000177465	ENST00000326303	T	0.70869	-0.52	4.93	1.98	0.26296	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.977348	0.08421	N	0.948373	T	0.53642	0.1809	L	0.27975	0.815	0.21355	N	0.999717	B	0.12013	0.005	B	0.04013	0.001	T	0.35176	-0.9799	10	0.25106	T	0.35	-7.8875	5.3086	0.15817	0.2258:0.0:0.6288:0.1454	.	56	Q8N9L9	ACOT4_HUMAN	T	56	ENSP00000323071:A56T	ENSP00000323071:A56T	A	+	1	0	ACOT4	73128582	0.000000	0.05858	0.174000	0.22961	0.010000	0.07245	0.021000	0.13489	0.179000	0.19938	-0.448000	0.05591	GCC		0.771	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		3	25	0	0	0	1	0	3	25					A	74058829	G	A	74058829	3	1	97	1	0	0	0	0	1	0	0	0	153	1087	38	1	168	1	ACOT4	14	74058829	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		74058829	33290711	58	34475											
CCDC88C	440193	broad.mit.edu	37	chr14	91791261	91791261	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aattcgtttcttatctgtgtCccggtcctggggcaagcaag	11	10	2	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:91791261C>T	ENST00000389857.6	-	12	1290	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	402					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)				TTATCTGTGTCCCGGTCCTGG	0.542																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1204-1206)Gac>Aac		coiled-coil domain containing 88C							97	102	100					14																	91791261		2021	4187	6208	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91791261C>T		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.1204G>A	14.37:g.91791261C>T	ENSP00000374507:p.Asp402Asn						p.D402N	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			12	1290	-		all_cancers(154;0.0468)	402					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1204G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022353	0.93462	.	.	ENSG00000015133	ENST00000389857	T	0.57436	0.4	5.76	5.76	0.90799	.	0.000000	0.51477	U	0.000096	T	0.74756	0.3758	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78209	-0.2293	10	0.72032	D	0.01	-45.0551	14.7623	0.69614	0.1445:0.8555:0.0:0.0	.	402	Q9P219	DAPLE_HUMAN	N	402	ENSP00000374507:D402N	ENSP00000374507:D402N	D	-	1	0	CCDC88C	90861014	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.568000	0.67385	2.728000	0.93425	0.555000	0.69702	GAC		0.542	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		5	257	0	0	0	1	0	5	257					T	91791261	C	T	91791261	3	4	97	1	0	0	0	0	1	0	0	0	2872	855	30	2	4958	2	CCDC88C	14	91791261	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	17732432	91791261	15558279	59	34476											
AHNAK2	113146	broad.mit.edu	37	chr14	105412407	105412407	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcggccagggacaggtcCccctccagccgtgcaccatc	11	17	0	0	rs374653111	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:105412407C>A	ENST00000333244.5	-	7	9500	c.9381G>T	c.(9379-9381)ggG>ggT	p.G3127G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3127						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622													.|||	3	0.000599042	0.0008	0.0	5008	,	,		18147	0.001		0.0	False		,,,				2504	0.001					ENST00000333244.5																			1	Substitution - coding silent(1)	p.G3127G(1)	ovary(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9379-9381)ggG>ggT		AHNAK nucleoprotein 2		A		0,3924		0,0,1962	152	129	136		9381	-6.6	0	14		136	2,8232		0,2,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6077	AA,AC,CC		0.0243,0.0,0.0165		3127/5796	105412407	2,12156	1962	4117	6079	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412407C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9381G>T	14.37:g.105412407C>A						AHNAK2_ENST00000557457.1_Intron	p.G3127G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9500	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3127					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9381G>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	1237	1	0	2.27111e-07	1	2.4025e-07	11	1237					A	105412407	C	A	105412407	2	1	97	1	0	0	0	0	0	0	0	1	415	610	22	3		3	AHNAK2	14	105412407	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	13621146	105412407	1937133	60	34477											
MGA	23269	broad.mit.edu	37	chr15	42041764	42041764	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacaaactcaataaaaagaGagcaagaaacgaagaaggtt	8	5	1	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:42041764G>T	ENST00000570161.1	+	16	5959	c.5959G>T	c.(5959-5961)Gag>Tag	p.E1987*	MGA_ENST00000219905.7_Nonsense_Mutation_p.E1987*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948*			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)	AATAAAAAGAGAGCAAGAAAC	0.428																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5959-5961)Gag>Tag		MGA, MAX dimerization protein							60	59	60					15																	42041764		1849	4092	5941	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041764G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5959G>T	15.37:g.42041764G>T	ENSP00000457035:p.Glu1987*					MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E1987*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948*	p.E1987*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6140	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1948					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.5959G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011840	0.75046	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.89	2.96	0.34315	.	0.000000	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	5.9914	0.19465	0.1012:0.1952:0.7036:0.0	.	.	.	.	X	1987;1948;1778	.	ENSP00000219905:E1987X	E	+	1	0	MGA	39829056	1.000000	0.71417	0.994000	0.49952	0.636000	0.38137	2.731000	0.47343	1.383000	0.46405	0.563000	0.77884	GAG		0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	266	1	0	0.184627	1	0.186081	5	266					T	42041764	G	T	42041764	4	4	97	1	0	0	0	0	0	1	0	0	9581	943	33	3	6021	3	MGA	15	42041764	Nonsense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		42041764	60489628	61	34478											
NARG2	79664	broad.mit.edu	37	chr15	60720749	60720749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccagggaactgagagactgGaaggtacaccaggaaggccg	15	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:60720749G>A	ENST00000261520.4	-	15	2933	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	NARG2_ENST00000439632.1_Missense_Mutation_p.S763F	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGAGAGACTGGAAGGTACACC	0.423																																						ENST00000261520.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2698-2700)tCc>tTc		NMDA receptor regulated 2							90	87	88					15																	60720749		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60720749G>A																												ENST00000261520.4:c.2699C>T	15.37:g.60720749G>A	ENSP00000261520:p.Ser900Phe					NARG2_ENST00000439632.1_Missense_Mutation_p.S763F	p.S900F	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN			15	2933	-			900						Missense_Mutation	SNP	ENST00000261520.4	37	c.2699C>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467917	0.84533	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.96	5.96	0.96718	NMDA receptor-regulated gene protein 2 (1);	0.305688	0.36374	N	0.002621	T	0.67757	0.2927	L	0.44542	1.39	0.34937	D	0.749928	D	0.54397	0.966	P	0.58331	0.837	T	0.74945	-0.3491	9	0.87932	D	0	-3.8481	18.5997	0.91244	0.0:0.0:1.0:0.0	.	900	Q659A1	NARG2_HUMAN	F	900;763	.	ENSP00000261520:S900F	S	-	2	0	NARG2	58508041	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.152000	0.71812	2.831000	0.97527	0.650000	0.86243	TCC		0.423	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1			7	279	0	0	0	1	0	7	279					A	60720749	G	A	60720749	3	1	97	1	0	0	0	0	1	0	0	0	10210	1174	41	2	257	2	NARG2	15	60720749	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	18678985	60720749	41810643	62	34479											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651305	84651305	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccatggtcttgctgccccCgacatcggcgtgtaccggtg	12	14	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:84651305C>T	ENST00000286744.5	+	21	3149	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	ADAMTSL3_ENST00000567476.1_Silent_p.P975P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	975	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGCTGCCCCCGACATCGGCG	0.567																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2923-2925)ccC>ccT		ADAMTS-like 3							80	81	80					15																	84651305		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651305C>T	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.2925C>T	15.37:g.84651305C>T						ADAMTSL3_ENST00000567476.1_Silent_p.P975P	p.P975P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3149	+			975			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2925C>T	CCDS10326.1																																																																																				0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		12	394	0	0	0	1	0	12	394					T	84651305	C	T	84651305	2	4	97	1	0	0	0	0	0	0	0	1	276	639	23	1		1	ADAMTSL3	15	84651305	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	23930556	84651305	17880087	63	34480											
IGF1R	3480	broad.mit.edu	37	chr15	99454671	99454671	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtttactacaaggaagcGtgagtttctgctttgggtga	12	7	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:99454671G>A	ENST00000268035.6	+	7	2200		c.e7+1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACAAGGAAGCGTGAGTTTCTG	0.537																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e7+1		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						158	141	147					15																	99454671		2197	4297	6494	SO:0001630	splice_region_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99454671G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1589+1G>A	15.37:g.99454671G>A						IGF1R_ENST00000558762.1_Splice_Site		NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		7	2200	+	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)							B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37		CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005527	0.93287	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGF1R	97272194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.778000	0.99011	2.837000	0.97791	0.655000	0.94253	.		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	Intron	9	344	0	0	0	1	0	9	344					A	99454671	G	A	99454671	5	1	97	1	0	0	0	0	0	0	1	0	7601	1159	40	1	1616	1	IGF1R	15	99454671	Splice_Site	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	14803366	99454671	3076721	64	34481											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		8	435						8	435	---	---	---	---	-	1824300	TGC	-	1824298	7	5	97	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-AAUR-01A-21D-A38G-08		1824298	88530455	65	34482											
PPL	5493	broad.mit.edu	37	chr16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccgccttggggtctggccGcacgatctcccgcaccttct	10	17	3	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1179					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						GGGTCTGGCCGCACGATCTCC	0.627																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3535-3537)Cgg>Tgg		periplakin							107	97	100					16																	4935121		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935121G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3535C>T	16.37:g.4935121G>A	ENSP00000340510:p.Arg1179Trp					PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	p.R1179W	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3624	-			1179					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3535C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222315	0.79464	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.493000	0.66899	2.677000	0.91161	0.561000	0.74099	CGG		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	400	0	0	0	1	0	5	400					A	4935121	G	A	4935121	3	1	97	1	0	0	0	0	1	0	0	0	12381	1086	38	1	1739	1	PPL	16	4935121	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	3110823	4935121	85419632	66	34483											
ITGAD	3681	broad.mit.edu	37	chr16	31409124	31409124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctccaggcctgtggCccgaccctgcacagagtctg	11	16	2	1	rs12922480		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:31409124C>T	ENST00000389202.2	+	5	370	c.321C>T	c.(319-321)ggC>ggT	p.G107G		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	107					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						AGGCCTGTGGCCCGACCCTGC	0.657																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(319-321)ggC>ggT		integrin, alpha D							30	29	30					16																	31409124		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409124C>T	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.321C>T	16.37:g.31409124C>T							p.G107G	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			5	370	+			107					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.321C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671698	0.29693	.	.	ENSG00000156886	ENST00000316569	.	.	.	4.19	-0.494	0.12034	.	.	.	.	.	T	0.29914	0.0748	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09314	-1.0680	5	0.11182	T	0.66	.	2.1072	0.03694	0.1557:0.4917:0.153:0.1996	.	.	.	.	V	15	.	ENSP00000323325:A15V	A	+	2	0	ITGAD	31316625	0.950000	0.32346	0.969000	0.41365	0.636000	0.38137	-0.193000	0.09573	0.131000	0.18576	-0.136000	0.14681	GCC		0.657	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		4	177	0	0	0	1	0	4	177					T	31409124	C	T	31409124	2	4	97	1	0	0	0	0	0	0	0	1	7914	726	26	2		2	ITGAD	16	31409124	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	26474003	31409124	58945629	67	34484											
CDH11	1009	broad.mit.edu	37	chr16	64981668	64981668	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcccctgccttcataaccGtagatttgaatggagtcata	9	10	2	2	rs145843219	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:64981668G>A	ENST00000268603.4	-	13	2844	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y	CDH11_ENST00000566827.1_Silent_p.Y617Y|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	743					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)		CTTCATAACCGTAGATTTGAA	0.537			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G|||	6	0.00119808	0.0008	0.0043	5008	,	,		16855	0.0		0.0	False		,,,				2504	0.002					ENST00000268603.4				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				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						c.(2227-2229)taC>taT		cadherin 11, type 2, OB-cadherin (osteoblast)		G		4,4402	8.1+/-20.4	0,4,2199	90	89	90		2229	-3	0.9	16	dbSNP_134	90	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	CDH11	NM_001797.2		0,13,6490	AA,AG,GG		0.1047,0.0908,0.1		743/797	64981668	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981668G>A	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.2229C>T	16.37:g.64981668G>A		TSP Lung(24;0.17)				CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.Y617Y	p.Y743Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2844	-		Ovarian(137;0.0973)	743					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.2229C>T	CCDS10803.1																																																																																				0.537	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	444	0	0	0	1	0	10	444					A	64981668	G	A	64981668	2	1	97	1	0	0	0	0	0	0	0	1	3106	1140	40	1		1	CDH11	16	64981668	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	33572544	64981668	25373085	68	34485											
PFAS	5198	broad.mit.edu	37	chr17	8172434	8172434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctgctcctgtgatggccGccacctggctgtcatgcctc	10	16	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:8172434G>A	ENST00000314666.6	+	28	4002	c.3869G>A	c.(3868-3870)cGc>cAc	p.R1290H	PFAS_ENST00000545834.1_Missense_Mutation_p.R866H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1290	Glutamine amidotransferase type-1.				'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)	TGTGATGGCCGCCACCTGGCT	0.642																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3868-3870)cGc>cAc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						48	50	49					17																	8172434		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172434G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3869G>A	17.37:g.8172434G>A	ENSP00000313490:p.Arg1290His					PFAS_ENST00000545834.1_Missense_Mutation_p.R866H	p.R1290H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			28	4002	+			1290			Glutamine amidotransferase type-1.		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3869G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261601	0.95368	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.51325	0.71;1.42	5.46	5.46	0.80206	Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82561	-0.0396	10	0.87932	D	0	-18.6721	16.808	0.85710	0.0:0.0:1.0:0.0	.	1290	O15067	PUR4_HUMAN	H	866;1290;699	ENSP00000441706:R866H;ENSP00000313490:R1290H	ENSP00000313490:R1290H	R	+	2	0	PFAS	8113159	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.142000	0.94618	2.544000	0.85801	0.655000	0.94253	CGC		0.642	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			5	314	0	0	0	1	0	5	314					A	8172434	G	A	8172434	3	1	97	1	0	0	0	0	1	0	0	0	11796	1087	38	1	3975	1	PFAS	17	8172434	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		8172434	73022776	69	34486											
NDEL1	81565	broad.mit.edu	37	chr17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-													agtaaacggctttgaccccgCtcctcctcctcctggtctgg					rs557733194	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	327	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(967-972)gct>g		nudE neurodevelopment protein 1-like 1																																				SO:0001651	inframe_deletion	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370271_8370273delCTC	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.968_970delCTC	17.37:g.8370280_8370282delCTC	ENSP00000333982:p.Pro327del					NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_3'UTR	p.AP323del	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			9	1165_1167	+			323			Interaction with CENPF.|Interaction with NEFL (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	In_Frame_Del	DEL	ENST00000334527.7	37	c.968_970delCTC	CCDS11143.1																																																																																				0.576	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		7	432						7	432	---	---	---	---	-	8370273	CTC	-	8370271	7	5	97	1	0	1	0	1	0	0	0	0	10286	797	28	0	1037	0	NDEL1	17	8370271	In_Frame_Del	DEL	CTC	TCGA-IB-AAUR-01A-21D-A38G-08	197837	8370271	72824939	70	34487											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct					rs146612839		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					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						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4162-4167)gcc>g		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397095_8397097delCCT	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.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del					MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del	p.EA1388del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4301_4303	-			1357					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.4163_4165delAGG	CCDS11144.1																																																																																				0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	292						7	292	---	---	---	---	-	8397097	CCT	-	8397095	7	5	97	1	0	1	0	1	0	0	0	0	10071	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-IB-AAUR-01A-21D-A38G-08	26824	8397095	72798115	71	34488											
GPR179	440435	broad.mit.edu	37	chr17	36491506	36491506	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtatgatggtgccgtagacGatggcaaaacccagcagccg	13	10	0	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:36491506G>A	ENST00000342292.4	-	6	1394	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	458					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)				TGCCGTAGACGATGGCAAAAC	0.547																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1372-1374)atC>atT		G protein-coupled receptor 179							73	82	79					17																	36491506		2064	4223	6287	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36491506G>A		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.1374C>T	17.37:g.36491506G>A							p.I458I	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			6	1394	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	458						Silent	SNP	ENST00000342292.4	37	c.1374C>T	CCDS42308.1																																																																																				0.547	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			4	229	0	0	0	1	0	4	229					A	36491506	G	A	36491506	2	1	97	1	0	0	0	0	0	0	0	1	6703	1048	37	1		1	GPR179	17	36491506	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	28094411	36491506	44703704	72	34489											
CASC3	22794	broad.mit.edu	37	chr17	38324149	38324149	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggtgacagccctgccccGctgcctccacagggcatgct	11	17	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTGCCCCGCTGCCTCCAC	0.502																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1696-1698)ccG>ccA		cancer susceptibility candidate 3							160	142	148					17																	38324149		2203	4300	6503	SO:0001819	synonymous_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38324149G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1698G>A	17.37:g.38324149G>A							p.P566P	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			10	1924	+			566			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Silent	SNP	ENST00000264645.7	37	c.1698G>A	CCDS11362.1																																																																																				0.502	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		6	630	0	0	0	1	0	6	630					A	38324149	G	A	38324149	2	1	97	1	0	0	0	0	0	0	0	1	2668	1074	38	1		1	CASC3	17	38324149	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	1832643	38324149	42871061	73	34490											
KRT25	147183	broad.mit.edu	37	chr17	38907438	38907438	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctcgttgaaccaggcctcCgcgtccctgcggttctgctc	10	16	2	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38907438C>T	ENST00000312150.4	-	4	870	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACCAGGCCTCCGCGTCCCTGC	0.532																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(808-810)gcG>gcA		keratin 25							90	76	81					17																	38907438		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907438C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.810G>A	17.37:g.38907438C>T							p.A270A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			4	870	-		Breast(137;0.00526)	270			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.810G>A	CCDS11373.1																																																																																				0.532	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		5	291	0	0	0	1	0	5	291					T	38907438	C	T	38907438	2	4	97	1	0	0	0	0	0	0	0	1	8492	639	23	1		1	KRT25	17	38907438	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	583289	38907438	42287772	74	34491											
HDAC5	10014	broad.mit.edu	37	chr17	42157539	42157539	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaacagcatcaaacccggcGgagactaggaccacatcagg	10	13	3	1	rs371025868		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:42157539G>A	ENST00000393622.2	-	23	3211	c.2880C>T	c.(2878-2880)tcC>tcT	p.S960S	HDAC5_ENST00000586802.1_Silent_p.S960S|HDAC5_ENST00000225983.6_Silent_p.S961S|HDAC5_ENST00000336057.5_Silent_p.S875S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	960	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)		CAAACCCGGCGGAGACTAGGA	0.577																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2881-2883)tcC>tcT		histone deacetylase 5							144	115	125					17																	42157539		2203	4300	6503	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42157539G>A	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.2880C>T	17.37:g.42157539G>A						HDAC5_ENST00000336057.5_Silent_p.S875S|HDAC5_ENST00000586802.1_Silent_p.S960S|HDAC5_ENST00000393622.2_Silent_p.S960S	p.S961S			Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	23	3206	-		Breast(137;0.00637)|Prostate(33;0.0313)	960			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.2883C>T	CCDS45696.1																																																																																				0.577	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		4	198	0	0	0	1	0	4	198					A	42157539	G	A	42157539	2	1	97	1	0	0	0	0	0	0	0	1	7040	1103	39	1		1	HDAC5	17	42157539	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	3250101	42157539	39037671	75	34492											
C17orf53	78995	broad.mit.edu	37	chr17	42226197	42226197	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcggatacccttacaaccGcaagctccagtgtcttccat	6	16	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:42226197G>A	ENST00000319977.4	+	3	1263	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	C17orf53_ENST00000585683.1_Silent_p.P342P|C17orf53_ENST00000245382.6_Silent_p.P342P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	342										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCTTACAACCGCAAGCTCCAG	0.532																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(1024-1026)ccG>ccA		chromosome 17 open reading frame 53							214	209	210					17																	42226197		2203	4300	6503	SO:0001819	synonymous_variant	78995							g.chr17:42226197G>A	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1026G>A	17.37:g.42226197G>A						C17orf53_ENST00000245382.6_Silent_p.P342P|C17orf53_ENST00000585683.1_Silent_p.P342P	p.P342P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1263	+		Breast(137;0.0364)|Prostate(33;0.0376)	342					A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	c.1026G>A	CCDS11477.1																																																																																				0.532	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		8	1154	0	0	0	1	0	8	1154					A	42226197	G	A	42226197	2	1	97	1	0	0	0	0	0	0	0	1	1868	1074	38	1		1	C17orf53	17	42226197	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	68658	42226197	38969013	76	34493											
CCDC47	57003	broad.mit.edu	37	chr17	61833870	61833870	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtcgcaccaaggctttccGtgtgccaacagcaaatacgt	9	12	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:61833870G>A	ENST00000225726.5	-	7	1178	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W|CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	266					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAGGCTTTCCGTGTGCCAACA	0.378																																						ENST00000225726.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(796-798)Cgg>Tgg		coiled-coil domain containing 47							122	107	112					17																	61833870		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61833870G>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.796C>T	17.37:g.61833870G>A	ENSP00000225726:p.Arg266Trp					CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W|CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W	p.R266W	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN			7	1178	-			266					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.796C>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054915	0.36277	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.77	5.77	0.91146	.	0.052964	0.64402	D	0.000001	T	0.69396	0.3106	L	0.52573	1.65	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	P;D	0.66084	0.859;0.941	T	0.71087	-0.4694	9	0.87932	D	0	-10.161	14.4629	0.67465	0.0:0.0:0.8437:0.1562	.	266;266	Q96A33-2;Q96A33	.;CCD47_HUMAN	W	266	.	ENSP00000225726:R266W	R	-	1	2	CCDC47	59187602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.753000	0.55180	2.730000	0.93505	0.655000	0.94253	CGG		0.378	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		5	436	0	0	0	1	0	5	436					A	61833870	G	A	61833870	3	1	97	1	0	0	0	0	1	0	0	0	2825	1144	40	1	683	1	CCDC47	17	61833870	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	19607673	61833870	19361340	77	34494											
CACNG4	27092	broad.mit.edu	37	chr17	65021069	65021069	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcaggatctacagccGcaagaacaacatcgtcctca	9	13	2	1	rs576033468		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65021069G>A	ENST00000262138.3	+	3	400	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	133					membrane depolarization (GO:0051899)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ATCTACAGCCGCAAGAACAAC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.001					ENST00000262138.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(397-399)cGc>cAc		calcium channel, voltage-dependent, gamma subunit 4							99	85	90					17																	65021069		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021069G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.398G>A	17.37:g.65021069G>A	ENSP00000262138:p.Arg133His						p.R133H	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	400	+	all_cancers(12;9.86e-11)		133					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.398G>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668071	0.47677	.	.	ENSG00000075461	ENST00000262138	D	0.88664	-2.41	4.81	3.83	0.44106	.	0.294943	0.41097	D	0.000949	T	0.80486	0.4632	N	0.16368	0.405	0.40796	D	0.983295	P	0.49961	0.93	B	0.40741	0.339	T	0.80165	-0.1496	10	0.32370	T	0.25	-3.4274	15.337	0.74266	0.0:0.1405:0.8595:0.0	.	133	Q9UBN1	CCG4_HUMAN	H	133	ENSP00000262138:R133H	ENSP00000262138:R133H	R	+	2	0	CACNG4	62451531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.572000	0.36461	1.136000	0.42199	0.561000	0.74099	CGC		0.672	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		5	328	0	0	0	1	0	5	328					A	65021069	G	A	65021069	3	1	97	1	0	0	0	0	1	0	0	0	2566	1087	38	1	408	1	CACNG4	17	65021069	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	3187199	65021069	16174141	78	34495											
BPTF	2186	broad.mit.edu	37	chr17	65882284	65882284	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagagcagtaacactagtgcTaccactacctccatccagcc	7	15	0	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65882284T>C	ENST00000321892.4	+	6	2155	c.2094T>C	c.(2092-2094)gcT>gcC	p.A698A	BPTF_ENST00000306378.6_Intron|BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000424123.3_Silent_p.A559A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	698	Interaction with KEAP1.				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)			ACACTAGTGCTACCACTACCT	0.383																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2092-2094)gcT>gcC		bromodomain PHD finger transcription factor							126	122	123					17																	65882284		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65882284T>C	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.2094T>C	17.37:g.65882284T>C						BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000424123.3_Silent_p.A559A|BPTF_ENST00000306378.6_Intron	p.A698A			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	2155	+	all_cancers(12;6e-11)		698			Interaction with KEAP1.		Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.2094T>C																																																																																					0.383	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		16	493	0	0	0	1	0	16	493					C	65882284	T	C	65882284	2	2	97	1	0	0	0	0	0	0	0	1	1499	1509	53	4		4	BPTF	17	65882284	Silent	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08	861215	65882284	15312926	79	34496											
TTYH2	94015	broad.mit.edu	37	chr17	72248384	72248384	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccaggattatctggaCgctcttgctggcatctgcta	9	12	3	0	rs139944691		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:72248384C>T	ENST00000269346.4	+	11	1202	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	TTYH2_ENST00000529107.1_Silent_p.D355D|TTYH2_ENST00000441391.2_Silent_p.D55D	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	376						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						ATTATCTGGACGCTCTTGCTG	0.622																																						ENST00000441391.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(163-165)gaC>gaT		tweety family member 2		C	,	0,4406		0,0,2203	135	121	125		1128,165	-0.6	1	17	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TTYH2	NM_032646.5,NM_052869.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	376/535,55/214	72248384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72248384C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1128C>T	17.37:g.72248384C>T						TTYH2_ENST00000529107.1_Silent_p.D355D|TTYH2_ENST00000269346.4_Silent_p.D376D	p.D55D	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN			5	1377	+			376					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.165C>T	CCDS32717.1																																																																																				0.622	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			5	436	0	0	0	1	0	5	436					T	72248384	C	T	72248384	2	4	97	1	0	0	0	0	0	0	0	1	16794	535	19	1		1	TTYH2	17	72248384	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	6366100	72248384	8946826	80	34497											
AANAT	15	broad.mit.edu	37	chr17	74464914	74464914	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgagctgtcagcggcGccacacactccctgccagtg	11	18	1	0	rs141006262	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:74464914G>A	ENST00000392492.3	+	2	320	c.86G>A	c.(85-87)cGc>cAc	p.R29H	AANAT_ENST00000250615.3_Missense_Mutation_p.R74H	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	29					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						TGTCAGCGGCGCCACACACTC	0.662													G|||	8	0.00159744	0.0061	0.0	5008	,	,		16338	0.0		0.0	False		,,,				2504	0.0					ENST00000250615.3																			0				lung(1)	1						c.(220-222)cGc>cAc		aralkylamine N-acetyltransferase		G	HIS/ARG,HIS/ARG	14,4392	22.3+/-47.3	0,14,2189	46	45	45		86,221	4.3	1	17	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	AANAT	NM_001088.2,NM_001166579.1	29,29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	probably-damaging,probably-damaging	29/208,74/253	74464914	14,12992	2203	4300	6503	SO:0001583	missense	15				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity	g.chr17:74464914G>A	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"serotonin N-acetyltransferase"	600950	"arylalkylamine N-acetyltransferase"			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.86G>A	17.37:g.74464914G>A	ENSP00000376282:p.Arg29His					AANAT_ENST00000392492.3_Missense_Mutation_p.R29H	p.R74H	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN			5	1228	+			29			N-acetyltransferase.		A0AVF2|J3KMZ5|Q562F4	Missense_Mutation	SNP	ENST00000392492.3	37	c.221G>A	CCDS11745.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	22.0	4.226616	0.79576	0.003177	0.0	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.55930	0.49;0.6	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79429	-0.1807	10	0.72032	D	0.01	-6.0846	16.7956	0.85601	0.0:0.0:1.0:0.0	.	29	Q16613	SNAT_HUMAN	H	74;29	ENSP00000250615:R74H;ENSP00000376282:R29H	ENSP00000250615:R74H	R	+	2	0	AANAT	71976509	1.000000	0.71417	0.987000	0.45799	0.752000	0.42762	9.117000	0.94347	1.942000	0.56320	0.462000	0.41574	CGC		0.662	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	NM_001088		4	161	0	0	0	1	0	4	161					A	74464914	G	A	74464914	3	1	97	1	0	0	0	0	1	0	0	0	18	1087	38	1	227	1	AANAT	17	74464914	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	2216530	74464914	6730296	81	34498											
PIAS2	9063	broad.mit.edu	37	chr18	44435568	44435568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataatctctcctaccacctgGcaaaaaatccctgttggaaa	5	12	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:44435568G>A	ENST00000585916.1	-	4	594	c.595C>T	c.(595-597)Cca>Tca	p.P199S	PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.P199S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	199	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				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						CTACCACCTGGCAAAAAATCC	0.363																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(595-597)Cca>Tca		protein inhibitor of activated STAT, 2							63	64	64					18																	44435568		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44435568G>A	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.595C>T	18.37:g.44435568G>A	ENSP00000465676:p.Pro199Ser					PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.P199S	p.P199S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			4	594	-			199			PINIT.		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.595C>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686884	0.48097	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	5.45	5.45	0.79879	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	N	0.25245	0.725	0.80722	D	1	B;B;B;P	0.37500	0.24;0.106;0.357;0.597	B;B;B;B	0.42882	0.28;0.377;0.32;0.401	T	0.02603	-1.1135	10	0.22109	T	0.4	-2.7415	19.2762	0.94032	0.0:0.0:1.0:0.0	.	203;199;199;199	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	S	199;199;195;199	ENSP00000317163:P199S	ENSP00000262161:P199S	P	-	1	0	PIAS2	42689566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.217000	0.95160	2.553000	0.86117	0.591000	0.81541	CCA		0.363	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		4	226	0	0	0	1	0	4	226					A	44435568	G	A	44435568	3	1	97	1	0	0	0	0	1	0	0	0	11918	1203	42	2	1389	2	PIAS2	18	44435568	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		44435568	33641680	82	34499											
SMAD4	4089	broad.mit.edu	37	chr18	48591901	48591901	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tactgttgatggatacgtggAcccttctggaggagatcgct	13	8	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:48591901A>G	ENST00000342988.3	+	9	1602	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	SMAD4_ENST00000588745.1_Missense_Mutation_p.D259G|SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	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.D355G(2)|p.D355A(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)		GGATACGTGGACCCTTCTGGA	0.428																																						ENST00000342988.3																			41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(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						c.(1063-1065)gAc>gGc		SMAD family member 4							216	180	192					18																	48591901		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591901A>G	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.1064A>G	18.37:g.48591901A>G	ENSP00000341551:p.Asp355Gly					SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259G	p.D355G	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1602	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	355			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1064A>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.016245	0.93404	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98060	-4.69;-4.69	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	0.98845	0.9610	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	355	Q13485	SMAD4_HUMAN	G	355	ENSP00000341551:D355G;ENSP00000381452:D355G	ENSP00000341551:D355G	D	+	2	0	SMAD4	46845899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAC		0.428	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		18	411	0	0	0	1	0	18	411					G	48591901	A	G	48591901	3	3	97	1	0	0	0	0	1	0	0	0	14810	275	10	4	1094	4	SMAD4	18	48591901	Missense_Mutation	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08	4156333	48591901	29485347	83	34500											
MCOLN1	57192	broad.mit.edu	37	chr19	7591452	7591452	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccttcgcagcctacacgcGggagcagctgtaccaggcca	11	16	0	0	rs371444491		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:7591452G>A	ENST00000264079.6	+	3	490	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	122					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)	p.R122L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTACACGCGGGAGCAGCTG	0.652																																						ENST00000264079.6																			1	Substitution - Missense(1)	p.R122L(1)	lung(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(364-366)cGg>cAg		mucolipin 1		G	GLN/ARG	0,4406		0,0,2203	124	104	111		365	-4.2	0.6	19		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCOLN1	NM_020533.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	122/581	7591452	1,13005	2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7591452G>A	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.365G>A	19.37:g.7591452G>A	ENSP00000264079:p.Arg122Gln						p.R122Q	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			3	490	+			122					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.365G>A	CCDS12180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.949|6.949	0.544986|0.544986	0.13312|0.13312	0.0|0.0	1.16E-4|1.16E-4	ENSG00000090674|ENSG00000090674	ENST00000394321|ENST00000264079	.|T	.|0.44083	.|0.93	5.48|5.48	-4.19|-4.19	0.03835|0.03835	.|.	.|0.427403	.|0.27636	.|N	.|0.018482	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00275|0.00275	-1.725|-1.725	0.24373|0.24373	N|N	0.994821|0.994821	B|B	0.15473|0.02656	0.013|0.0	B|B	0.09377|0.04013	0.004|0.001	T|T	0.42548|0.42548	-0.9445|-0.9445	8|10	0.87932|0.07325	D|T	0|0.83	.|.	11.4747|11.4747	0.50291|0.50291	0.7257:0.0:0.2743:0.0|0.7257:0.0:0.2743:0.0	.|.	9|122	Q9GZU1-2|Q9GZU1	.|MCLN1_HUMAN	R|Q	9|122	.|ENSP00000264079:R122Q	ENSP00000377856:G9R|ENSP00000264079:R122Q	G|R	+|+	1|2	0|0	MCOLN1|MCOLN1	7497452|7497452	1.000000|1.000000	0.71417|0.71417	0.649000|0.649000	0.29536|0.29536	0.893000|0.893000	0.52053|0.52053	3.092000|3.092000	0.50207|0.50207	-0.447000|-0.447000	0.07138|0.07138	-1.631000|-1.631000	0.00782|0.00782	GGG|CGG		0.652	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		9	317	0	0	0	1	0	9	317					A	7591452	G	A	7591452	3	1	97	1	0	0	0	0	1	0	0	0	9436	1116	39	1	375	1	MCOLN1	19	7591452	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		7591452	51537531	84	34501											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	14	4	1	1			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96	95	96					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	318	0	0	0	1	0	7	318					G	9090831	A	G	9090831	2	3	97	1	0	0	0	0	0	0	0	1	10014	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08	1499379	9090831	50038152	85	34502											
SLC27A1	376497	broad.mit.edu	37	chr19	17611112	17611112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtggtttcaacagccGcatcctgccccacgtgtacc	8	17	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:17611112G>A	ENST00000252595.7	+	8	1329	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	411	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCAACAGCCGCATCCTGCCC	0.612																																						ENST00000252595.7																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1231-1233)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 1							56	54	55					19																	17611112		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17611112G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"Acyl-CoA synthetase family", "Solute carriers"	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1232G>A	19.37:g.17611112G>A	ENSP00000252595:p.Arg411His					SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H	p.R411H	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN			8	1329	+			411			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1232G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.49432	0.78;0.78	4.55	2.24	0.28232	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.84511	2.7	0.58432	D	0.999997	B;P	0.38455	0.211;0.632	B;B	0.37989	0.117;0.262	T	0.34625	-0.9821	10	0.15952	T	0.53	-4.3707	6.518	0.22258	0.1:0.0:0.7209:0.179	.	232;411	B7Z662;Q6PCB7	.;S27A1_HUMAN	H	411	ENSP00000413424:R411H;ENSP00000252595:R411H	ENSP00000252595:R411H	R	+	2	0	SLC27A1	17472112	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.243000	0.78219	0.898000	0.36418	0.555000	0.69702	CGC		0.612	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		6	316	0	0	0	1	0	6	316					A	17611112	G	A	17611112	3	1	97	1	0	0	0	0	1	0	0	0	14575	1087	38	1	1262	1	SLC27A1	19	17611112	Missense_Mutation	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	8520281	17611112	41517871	86	34503											
ZNF99	7652	broad.mit.edu	37	chr19	22941129	22941129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccagtatgaattatctTatgttttctaagggctgaga	8	6	2	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:22941129T>G	ENST00000596209.1	-	4	1672	c.1582A>C	c.(1582-1584)Aag>Cag	p.K528Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.K437Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	528					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)				TGAATTATCTTATGTTTTCTA	0.333																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1309-1311)Aag>Cag		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941129T>G	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.1582A>C	19.37:g.22941129T>G	ENSP00000472969:p.Lys528Gln					ZNF99_ENST00000596209.1_Missense_Mutation_p.K528Q	p.K437Q							5	1308	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1309A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.033	-1.323055	0.01320	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.29	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	N	0.20610	0.595	0.09310	N	1	D	0.56035	0.974	P	0.62184	0.899	T	0.07195	-1.0785	9	0.02654	T	1	.	7.2218	0.25992	0.0:0.0:0.6996:0.3004	.	437	A8MXY4	ZNF99_HUMAN	Q	437	ENSP00000380293:K437Q	ENSP00000380293:K437Q	K	-	1	0	ZNF99	22732969	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.164000	0.03135	-0.293000	0.08986	0.329000	0.21502	AAG		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	395	0	0	0	1	0	5	395					G	22941129	T	G	22941129	3	3	97	1	0	0	0	0	1	0	0	0	18257	1763	61	4	1815	4	ZNF99	19	22941129	Missense_Mutation	SNP	T	TCGA-IB-AAUR-01A-21D-A38G-08	5330017	22941129	36187854	87	34504											
TFPT	29844	broad.mit.edu	37	chr19	54617951	54617951	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggagccctgagccgcccagAccacctgacacaaactccac	8	19	0	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:54617951A>G	ENST00000391759.1	-	2	558	c.153T>C	c.(151-153)ggT>ggC	p.G51G	TFPT_ENST00000391757.1_Silent_p.G51G|TFPT_ENST00000391758.1_Silent_p.G42G|PRPF31_ENST00000321030.4_5'Flank|PRPF31_ENST00000419967.1_5'Flank	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	51					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)					AGCCGCCCAGACCACCTGACA	0.637			T	TCF3	pre-B ALL																																	ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(151-153)ggT>ggC		TCF3 (E2A) fusion partner (in childhood Leukemia)							115	125	122					19																	54617951		2203	4300	6503	SO:0001819	synonymous_variant	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54617951A>G	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.153T>C	19.37:g.54617951A>G						TFPT_ENST00000391758.1_Silent_p.G42G|TFPT_ENST00000391757.1_Silent_p.G51G	p.G51G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN			2	558	-	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)		51						Silent	SNP	ENST00000391759.1	37	c.153T>C	CCDS12878.1																																																																																				0.637	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		14	856	0	0	0	1	0	14	856					G	54617951	A	G	54617951	2	3	97	1	0	0	0	0	0	0	0	1	15862	262	10	4		4	TFPT	19	54617951	Silent	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08	31676822	54617951	4511032	88	34505											
PTPRT	11122	broad.mit.edu	37	chr20	40827887	40827887	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctctacttactgaatccGttgacgtcctgagaactaga	9	10	1	4			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:40827887G>A	ENST00000373187.1	-	16	2483	c.2484C>T	c.(2482-2484)aaC>aaT	p.N828N	PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373201.1_Silent_p.N818N|PTPRT_ENST00000373190.1_Silent_p.N828N|PTPRT_ENST00000373198.4_Silent_p.N847N|PTPRT_ENST00000373193.3_Silent_p.N831N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	828					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)				TACTGAATCCGTTGACGTCCT	0.562																																						ENST00000373198.3																			0				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						c.(2548-2550)aaC>aaT		protein tyrosine phosphatase, receptor type, T							383	383	383					20																	40827887		2057	4199	6256	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827887G>A	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.2484C>T	20.37:g.40827887G>A						PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373187.1_Silent_p.N828N|PTPRT_ENST00000373201.1_Silent_p.N818N|PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000373193.3_Silent_p.N831N|PTPRT_ENST00000373190.1_Silent_p.N828N	p.N850N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2785	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	828					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2550C>T	CCDS42874.1																																																																																				0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			45	2196	0	0	0	1	0	45	2196					A	40827887	G	A	40827887	2	1	97	1	0	0	0	0	0	0	0	1	12862	1136	40	1		1	PTPRT	20	40827887	Silent	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08		40827887	22197633	89	34506											
NEURL2	140825	broad.mit.edu	37	chr20	44517457	44517457	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggagcccatcaatggccagCcggtgcaccatgctcctttg	11	14	1	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R	CTSA_ENST00000372484.3_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(796-798)cgG>cgA		neuralized E3 ubiquitin protein ligase 2							96	81	86					20																	44517457		2203	4300	6503	SO:0001819	synonymous_variant	140825				intracellular signal transduction			g.chr20:44517457C>T	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"chromosome 20 open reading frame 163", "neuralized-like 2 (Drosophila)", "neuralized homolog 2 (Drosophila)"	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.798G>A	20.37:g.44517457C>T							p.R266R	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			2	1093	-		Myeloproliferative disorder(115;0.0122)	266			SOCS box.		Q3KR34	Silent	SNP	ENST00000372518.4	37	c.798G>A	CCDS13384.1																																																																																				0.552	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			4	242	0	0	0	1	0	4	242					T	44517457	C	T	44517457	2	4	97	1	0	0	0	0	0	0	0	1	10388	726	26	2		2	NEURL2	20	44517457	Silent	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	3689570	44517457	18508063	90	34507											
SYCP2	10388	broad.mit.edu	37	chr20	58444990	58444990	+	Frame_Shift_Del	DEL	T	T	-													tgtaagtaccagagaacttaTtttttttctatttacaatag							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:58444990delT	ENST00000357552.3	-	36	3829	c.3604delA	c.(3604-3606)atafs	p.I1202fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.I1202fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1202					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)			AGAGAACTTATTTTTTTTCTA	0.313																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3604-3606)tafs		synaptonemal complex protein 2							105	100	102					20																	58444990		2198	4294	6492	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58444990delT	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.3604delA	20.37:g.58444990delT	ENSP00000350162:p.Ile1202fs					SYCP2_ENST00000371001.2_Frame_Shift_Del_p.I1202fs	p.I1202fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		36	3829	-	all_lung(29;0.00344)		1202					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.3604delA	CCDS13482.1																																																																																				0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		7	501						7	501	---	---	---	---	-	58444990	T	-	58444990	7	5	97	1	0	1	0	1	0	0	0	0	15484	1493	52	0	1028	0	SYCP2	20	58444990	Frame_Shift_Del	DEL	T	TCGA-IB-AAUR-01A-21D-A38G-08	13927533	58444990	4580530	91	34508											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127654	32127654	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatagccacagccacagcCggagccatagccacaggagt	11	15	0	0			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr21:32127654C>T	ENST00000335093.3	-	1	92	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	15			G -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			intermediate filament (GO:0005882)		p.G15S(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cagccacagccggagccatag	0.537																																						ENST00000335093.3																			1	Substitution - Missense(1)	p.G15S(1)	breast(1)	breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						c.(43-45)Ggc>Agc		keratin associated protein 21-1							126	117	120					21																	32127654		2203	4300	6503	SO:0001583	missense	337977					intermediate filament		g.chr21:32127654C>T	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"Keratin associated proteins"	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.43G>A	21.37:g.32127654C>T	ENSP00000335566:p.Gly15Ser						p.G15S	NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN			1	92	-			15		G -> S (in a breast cancer sample; somatic mutation).				Missense_Mutation	SNP	ENST00000335093.3	37	c.43G>A	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910980	0.17833	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.17	3.26	0.37387	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.23739	N	0.996979	D	0.89917	1.0	D	0.75020	0.985	T	0.40813	-0.9543	7	0.45353	T	0.12	.	9.2597	0.37605	0.2151:0.7849:0.0:0.0	.	15	Q3LI58	KR211_HUMAN	S	15	.	ENSP00000335566:G15S	G	-	1	0	KRTAP21-1	31049525	0.000000	0.05858	0.906000	0.35671	0.230000	0.25150	-0.171000	0.09883	1.293000	0.44690	0.609000	0.83330	GGC		0.537	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			15	723	0	0	0	1	0	15	723					T	32127654	C	T	32127654	3	4	97	1	0	0	0	0	1	0	0	0	8568	652	23	1	198	1	KRTAP21-1	21	32127654	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08		32127654	16002241	92	34509											
MED15	51586	broad.mit.edu	37	chr22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcaacagcagcagttcCagcagcagcagcaggcggcg							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del	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)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(508-510)del		mediator complex subunit 15			,	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	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918793_20918795delCAG	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		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del	p.Q174del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	577_579	+	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)	174			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.508_510delCAG	CCDS33602.1																																																																																				0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	221						7	221	---	---	---	---	-	20918795	CAG	-	20918793	7	5	97	1	0	1	0	1	0	0	0	0	9474	595	21	0	530	0	MED15	22	20918793	In_Frame_Del	DEL	CAG	TCGA-IB-AAUR-01A-21D-A38G-08		20918793	30385773	93	34510			1	23		2	2	25	N	CAG	7.597414e-05
MED15	51586	broad.mit.edu	37	chr22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcaggcggcgctaCagcagcagcagcagcagcag							TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	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)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	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.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	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)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		9	156						9	156	---	---	---	---	-	20918819	CAG	-	20918817	7	5	97	1	0	1	0	1	0	0	0	0	9474	479	17	0	554	0	MED15	22	20918817	In_Frame_Del	DEL	CAG	TCGA-IB-AAUR-01A-21D-A38G-08	24	20918817	30385749	94	34511			1	23		2	2	25	N	CAG	7.597414e-05
SH3BP1	23616	broad.mit.edu	37	chr22	38041378	38041378	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcatccctgcagaccactCcccttcgatgacagccaccc	5	19	1	2			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:38041378C>A	ENST00000357436.4	+	10	1098	c.785C>A	c.(784-786)tCc>tAc	p.S262Y	SH3BP1_ENST00000599616.1_Missense_Mutation_p.S198Y|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	262	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)					GCAGACCACTCCCCTTCGATG	0.652																																						ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(592-594)tCc>tAc		SH3-domain binding protein 1							95	88	90					22																	38041378		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38041378C>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.785C>A	22.37:g.38041378C>A	ENSP00000350018:p.Ser262Tyr					SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.S262Y|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y	p.S198Y			Q9Y3L3	3BP1_HUMAN			8	593	+	Melanoma(58;0.0574)		262			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.593C>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640985	0.14386	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18502	2.27;2.21;2.31	5.16	-0.934	0.10428	Rho GTPase-activating protein domain (1);BAR (1);	0.691929	0.13789	N	0.362651	T	0.08044	0.0201	N	0.22421	0.69	0.19300	N	0.999975	B;P;P;P;P	0.39964	0.164;0.553;0.697;0.553;0.553	B;B;B;B;B	0.35510	0.159;0.13;0.204;0.067;0.13	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.2795	0.04111	0.1207:0.4325:0.2355:0.2113	.	262;176;198;262;176	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	Y	262;262;262;176	ENSP00000350018:S262Y;ENSP00000337213:S262Y;ENSP00000395126:S262Y	ENSP00000337213:S262Y	S	+	2	0	SH3BP1	36371324	0.000000	0.05858	0.999000	0.59377	0.000000	0.00434	-0.425000	0.07017	0.269000	0.21961	-0.258000	0.10820	TCC		0.652	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		8	365	1	0	0.0581538	1	0.0590768	8	365					A	38041378	C	A	38041378	3	1	97	1	0	0	0	0	1	0	0	0	14294	855	30	3	823	3	SH3BP1	22	38041378	Missense_Mutation	SNP	C	TCGA-IB-AAUR-01A-21D-A38G-08	17122561	38041378	13263188	95	34512											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-													ggatggcctggtagttgtggTgctgctgctgctgctggttg					rs200555648	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	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.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.66	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		8	249						8	249	---	---	---	---	-	40816889	TGC	-	40816887	7	5	97	1	0	1	0	1	0	0	0	0	9642	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-IB-AAUR-01A-21D-A38G-08	2775509	40816887	10487679	96	34513											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998523	27998523	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcaatggtgaacacaAcggcatcttcacctgaagtg	11	9	3	3			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:27998523A>C	ENST00000441525.1	-	1	1043	c.929T>G	c.(928-930)gTt>gGt	p.V310G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	310										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						GGTGAACACAACGGCATCTTC	0.478																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(928-930)gTt>gGt		DDB1 and CUL4 associated factor 8-like 1							85	74	78					X																	27998523		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998523A>C		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.929T>G	X.37:g.27998523A>C	ENSP00000405222:p.Val310Gly						p.V310G	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1043	-			310					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.929T>G	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975494	0.53720	.	.	ENSG00000226372	ENST00000441525	D	0.81499	-1.5	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.80166	0.4573	M	0.85197	2.74	0.80722	D	1	P	0.37548	0.599	B	0.41412	0.356	T	0.76348	-0.2992	10	0.51188	T	0.08	-11.5024	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	310	A6NGE4	DC8L1_HUMAN	G	310	ENSP00000405222:V310G	ENSP00000405222:V310G	V	-	2	0	DCAF8L1	27908444	0.997000	0.39634	0.313000	0.25210	0.401000	0.30781	5.370000	0.66144	0.571000	0.29365	0.235000	0.17854	GTT		0.478	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		5	222	0	0	0	1	0	5	222					C	27998523	A	C	27998523	3	2	97	1	0	0	0	0	1	0	0	0	4288	43	2	4	877	4	DCAF8L1	23	27998523	Missense_Mutation	SNP	A	TCGA-IB-AAUR-01A-21D-A38G-08		27998523	127272037	97	34514											
DRP2	1821	broad.mit.edu	37	chrX	100492764	100492764	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagaaggagacacatgcGgtaggttagaatcagagaag	15	5	1	4	rs372809310		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:100492764G>A	ENST00000395209.3	+	5	965	c.438G>A	c.(436-438)gcG>gcA	p.A146A	DRP2_ENST00000402866.1_Splice_Site_p.A146A|DRP2_ENST00000538510.1_Splice_Site_p.A146A|DRP2_ENST00000541709.1_Splice_Site_p.A68A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	146					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						AGACACATGCGGTAGGTTAGA	0.547																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.e5+1		dystrophin related protein 2		G	,	0,3835		0,0,1632,571	74	72	73		204,438	3.2	1	X		73	1,6727		0,1,2427,1872	no	coding-synonymous-near-splice,coding-synonymous-near-splice	DRP2	NM_001171184.1,NM_001939.2	,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,	68/880,146/958	100492764	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100492764G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.438+1G>A	X.37:g.100492764G>A						DRP2_ENST00000538510.1_Splice_Site_p.A146_splice|DRP2_ENST00000541709.1_Splice_Site_p.A68_splice|DRP2_ENST00000402866.1_Splice_Site_p.A146_splice	p.A146_splice	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			5	965	+			146					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Splice_Site	SNP	ENST00000395209.3	37	c.438_splice	CCDS14480.2																																																																																				0.547	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	Silent	4	177	0	0	0	1	0	4	177					A	100492764	G	A	100492764	5	1	97	1	0	0	0	0	0	0	1	0	4780	1130	39	1	448	1	DRP2	23	100492764	Splice_Site	SNP	G	TCGA-IB-AAUR-01A-21D-A38G-08	72494241	100492764	54777796	98	34515											
EPHA2	1969	broad.mit.edu	37	chr1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgttgacgaggatgttgCgggcagccaggtcacggtgc	17	9	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:16458656C>T	ENST00000358432.5	-	13	2382	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	743	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)	GAGGATGTTGCGGGCAGCCAG	0.612																																						ENST00000358432.5																			0				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						c.(2227-2229)cGc>cAc		EPH receptor A2	Dasatinib(DB01254)						177	152	161					1																	16458656		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458656C>T	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.2228G>A	1.37:g.16458656C>T	ENSP00000351209:p.Arg743His						p.R743H	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		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)	13	2382	-		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)	743			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2228G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577998	0.96565	.	.	ENSG00000142627	ENST00000358432	D	0.87729	-2.29	6.07	6.07	0.98685	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	0.000015	D	0.95277	0.8468	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95654	0.8709	10	0.87932	D	0	.	18.1378	0.89627	0.0:1.0:0.0:0.0	.	743	P29317	EPHA2_HUMAN	H	743	ENSP00000351209:R743H	ENSP00000351209:R743H	R	-	2	0	EPHA2	16331243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.612	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		7	545	0	0	0	1	0	7	545					T	16458656	C	T	16458656	3	4	98	1	0	0	0	0	1	0	0	0	5185	768	27	1	722	1	EPHA2	1	16458656	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		16458656	232791965	1	34516											
THRAP3	9967	broad.mit.edu	37	chr1	36766557	36766557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtcatctcactcctacaaaGcagaagagtacactgaagag	8	10	2	4			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:36766557G>A	ENST00000354618.5	+	10	2598	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	792	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCTACAAAGCAGAAGAGTA	0.502			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2374-2376)Gca>Aca		thyroid hormone receptor associated protein 3							73	71	72					1																	36766557		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36766557G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2374G>A	1.37:g.36766557G>A	ENSP00000346634:p.Ala792Thr					THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			10	2598	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	792					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2374G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.476580	0.84640	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15718	2.4;2.4	5.4	5.4	0.78164	.	0.074233	0.56097	D	0.000033	T	0.34832	0.0911	L	0.51422	1.61	0.45330	D	0.998325	D	0.64830	0.994	P	0.60173	0.87	T	0.01561	-1.1324	10	0.62326	D	0.03	-4.5675	18.5314	0.90993	0.0:0.0:1.0:0.0	.	792	Q9Y2W1	TR150_HUMAN	T	792	ENSP00000346634:A792T;ENSP00000433825:A792T	ENSP00000346634:A792T	A	+	1	0	THRAP3	36539144	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.957000	0.87870	2.705000	0.92388	0.650000	0.86243	GCA		0.502	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	255	0	0	0	1	0	5	255					A	36766557	G	A	36766557	3	1	98	1	0	0	0	0	1	0	0	0	15926	971	34	2	2404	2	THRAP3	1	36766557	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	20307901	36766557	212484064	2	34517											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					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)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	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	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1274						7	1274	---	---	---	---	-	44489938	T	-	44489938	7	5	98	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-IB-AAUS-01A-12D-A38G-08	7723381	44489938	204760683	3	34518											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334298	77334298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcagcagcaggcgtc	13	14	0	0	rs554217920	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711													G|||	2	0.000399361	0.0	0.0	5008	,	,		11676	0.002		0.0	False		,,,				2504	0.0					ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(130-132)caG>caA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							12	12	12					1																	77334298		2054	3972	6026	SO:0001819	synonymous_variant	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334298G>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.132G>A	1.37:g.77334298G>A						ST6GALNAC5_ENST00000496845.1_3'UTR	p.Q44Q	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	367	+			44			Poly-Gln.		B1AK82	Silent	SNP	ENST00000477717.1	37	c.132G>A	CCDS673.1																																																																																				0.711	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		4	185	0	0	0	1	0	4	185					A	77334298	G	A	77334298	2	1	98	1	0	0	0	0	0	0	0	1	15279	962	34	2		2	ST6GALNAC5	1	77334298	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	32844360	77334298	171916323	4	34519											
CYB561D1	284613	broad.mit.edu	37	chr1	110038541	110038541	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcatctccagcaggacccGcagtgagctgcctcatctgg	10	15	4	1	rs377408419		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:110038541G>A	ENST00000420578.2	+	3	390	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000527072.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	117	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCAGGACCCGCAGTGAGCTG	0.637																																						ENST00000420578.2																			0				breast(1)|large_intestine(3)|prostate(1)	5						c.(349-351)cGc>cAc		cytochrome b561 family, member D1		G	HIS/ARG,HIS/ARG,,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73	72	72		416,179,,,350	5.3	1	1		72	0,8600		0,0,4300	no	missense,missense,utr-3,utr-3,missense	CYB561D1	NM_001134400.1,NM_001134402.1,NM_001134403.1,NM_001134404.1,NM_182580.2	29,29,,,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,,probably-damaging	139/252,60/173,,,117/230	110038541	1,13005	2203	4300	6503	SO:0001583	missense	284613				electron transport chain|transport	integral to membrane	metal ion binding	g.chr1:110038541G>A	AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"Cytochrome b genes"	26804	protein-coding gene	gene with protein product			"cytochrome b-561 domain containing 1"			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.350G>A	1.37:g.110038541G>A	ENSP00000413530:p.Arg117His					CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000496961.1_3'UTR	p.R117H			Q8N8Q1	C56D1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	390	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	117			Cytochrome b561.		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	ENST00000420578.2	37	c.350G>A	CCDS800.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047750	0.75846	2.27E-4	0.0	ENSG00000174151	ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.35	5.35	0.76521	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	0.254613	0.37623	N	0.002004	T	0.49847	0.1581	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71414	0.931;0.973;0.96;0.973	T	0.36286	-0.9754	10	0.41790	T	0.15	-13.3439	16.1086	0.81244	0.0:0.0:1.0:0.0	.	139;117;60;79	Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.;C56D1_HUMAN;.;.	H	60;117;117;139	ENSP00000377312:R60H;ENSP00000413530:R117H;ENSP00000434344:R117H;ENSP00000358884:R139H	ENSP00000358884:R139H	R	+	2	0	CYB561D1	109840064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.453000	0.60061	2.788000	0.95919	0.555000	0.69702	CGC		0.637	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580		6	319	0	0	0	1	0	6	319					A	110038541	G	A	110038541	3	1	98	1	0	0	0	0	1	0	0	0	4131	1087	38	1	545	1	CYB561D1	1	110038541	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	32704243	110038541	139212080	5	34520											
FAM5B	57795	broad.mit.edu	37	chr1	177247848	177247848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgctgttcaaaaagacccatCggatcctacgccggctcttc	8	14	2	1	rs138472115		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:177247848C>T	ENST00000361539.4	+	7	1474	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	388					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)											AAAGACCCATCGGATCCTACG	0.612																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(1162-1164)Cgg>Tgg				C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92	96	95		1162	5.4	0.9	1	dbSNP_134	95	0,8600		0,0,4300	no	missense	FAM5B	NM_021165.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	388/784	177247848	1,13005	2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177247848C>T		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.1162C>T	1.37:g.177247848C>T	ENSP00000354481:p.Arg388Trp					FAM5B_ENST00000478325.1_3'UTR	p.R388W	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			7	1474	+			388					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1162C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586507	0.66105	2.27E-4	0.0	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.16897	2.31	5.39	5.39	0.77823	.	0.309039	0.35040	N	0.003497	T	0.34832	0.0911	L	0.57536	1.79	0.34722	D	0.728799	D;D;D	0.89917	1.0;1.0;0.994	P;P;P	0.62014	0.897;0.857;0.451	T	0.47249	-0.9132	10	0.87932	D	0	-23.9127	13.6933	0.62562	0.1543:0.8457:0.0:0.0	.	138;283;388	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	W	138;388	ENSP00000354481:R388W	ENSP00000354481:R388W	R	+	1	2	FAM5B	175514471	0.317000	0.24589	0.868000	0.34077	0.988000	0.76386	2.437000	0.44828	2.528000	0.85240	0.655000	0.94253	CGG		0.612	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		6	475	0	0	0	1	0	6	475					T	177247848	C	T	177247848	3	4	98	1	0	0	0	0	1	0	0	0	5618	875	31	1	1184	1	FAM5B	1	177247848	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	67209307	177247848	72002773	6	34521											
MTR	4548	broad.mit.edu	37	chr1	237054527	237054527	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcccggggtgtggttgggttCtggccagcacagagtatcca	16	10	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:237054527C>G	ENST00000366577.5	+	29	3496	c.3102C>G	c.(3100-3102)ttC>ttG	p.F1034L	MTR_ENST00000535889.1_Missense_Mutation_p.F983L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1034	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)	TGGTTGGGTTCTGGCCAGCAC	0.542																																						ENST00000366577.5																			0				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						c.(3100-3102)ttC>ttG		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						115	117	117					1																	237054527		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237054527C>G	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.3102C>G	1.37:g.237054527C>G	ENSP00000355536:p.Phe1034Leu					MTR_ENST00000535889.1_Missense_Mutation_p.F983L	p.F1034L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	29	3496	+	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)	1034			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3102C>G	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232160	0.39498	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75477	-0.94;-0.94;-0.94	5.48	4.57	0.56435	Vitamin B12-dependent methionine synthase, activation domain (3);	0.173034	0.51477	D	0.000096	T	0.57636	0.2067	L	0.28740	0.885	0.47276	D	0.999379	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12837	0.008;0.006;0.008	T	0.50792	-0.8786	10	0.05351	T	0.99	-18.3064	11.5051	0.50461	0.0:0.8551:0.0:0.1449	.	1034;983;1034	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	L	888;1034;983;588	ENSP00000355536:F1034L;ENSP00000441845:F983L;ENSP00000355535:F588L	ENSP00000355535:F588L	F	+	3	2	MTR	235121150	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.751000	0.38339	1.307000	0.44944	0.561000	0.74099	TTC		0.542	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		6	650	0	0	0	1	0	6	650					G	237054527	C	G	237054527	3	3	98	1	0	0	0	0	1	0	0	0	9999	912	32	5	3216	5	MTR	1	237054527	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	59806679	237054527	12196094	7	34522											
TTC31	64427	broad.mit.edu	37	chr2	74717251	74717251	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcggctgcagctgtggcacCatggtggggagtgcagggac	20	9	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:74717251C>T	ENST00000233623.5	+	3	236	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	TTC31_ENST00000410003.1_Missense_Mutation_p.H77Y|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000463189.1_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	77										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCTGTGGCACCATGGTGGGGA	0.632																																						ENST00000410003.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(229-231)Cat>Tat		tetratricopeptide repeat domain 31							20	23	22					2																	74717251		2041	4205	6246	SO:0001583	missense	64427						binding	g.chr2:74717251C>T	AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.229C>T	2.37:g.74717251C>T	ENSP00000233623:p.His77Tyr					TTC31_ENST00000463189.1_Intron|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Missense_Mutation_p.H77Y	p.H77Y			Q49AM3	TTC31_HUMAN			3	238	+			77					Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	ENST00000233623.5	37	c.229C>T	CCDS42701.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100195	0.37048	.	.	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.53206	0.63;0.63	3.9	3.01	0.34805	.	0.446946	0.17844	N	0.160114	T	0.38427	0.1040	L	0.51422	1.61	0.80722	D	1	B	0.14438	0.01	B	0.09377	0.004	T	0.46190	-0.9209	10	0.87932	D	0	.	6.6934	0.23185	0.0:0.8719:0.0:0.1281	.	77	Q49AM3	TTC31_HUMAN	Y	77	ENSP00000387213:H77Y;ENSP00000233623:H77Y	ENSP00000233623:H77Y	H	+	1	0	TTC31	74570759	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	2.177000	0.69029	0.561000	0.74099	CAT		0.632	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328422.1	NM_022492		3	21	0	0	0	1	0	3	21					T	74717251	C	T	74717251	3	4	98	1	0	0	0	0	1	0	0	0	16754	594	21	2	239	2	TTC31	2	74717251	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		74717251	168482122	8	34523											
ERCC3	2071	broad.mit.edu	37	chr2	128046235	128046235	+	Splice_Site	DEL	C	C	-													cttaactctggtaccacttaCcgcagggaagaacaatgacc							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:128046235delC	ENST00000285398.2	-	7	1122		c.e7+1		ERCC3_ENST00000493187.2_Splice_Site	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3						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)		GTACCACTTACCGCAGGGAAG	0.532			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				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						c.e7+1	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							357	353	354					2																	128046235		2203	4300	6503	SO:0001630	splice_region_variant	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046235delC	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.1027+1G>-	2.37:g.128046235delC						ERCC3_ENST00000285398.2_Splice_Site				P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	1299	-	Colorectal(110;0.1)							Q53QM0	Splice_Site	DEL	ENST00000285398.2	37		CCDS2144.1																																																																																				0.532	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122	Intron	38	2186						38	2186	---	---	---	---	-	128046235	C	-	128046235	8	5	98	1	0	1	0	1	0	0	1	0	5232	521	18	0	1356	0	ERCC3	2	128046235	Splice_Site	DEL	C	TCGA-IB-AAUS-01A-12D-A38G-08	53328984	128046235	115153138	9	34524											
GTF3C3	9330	broad.mit.edu	37	chr2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T													tgaggtgccttcttctgaagINStttttttttccagcacaatt							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	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																																						ENST00000263956.3																			0				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						c.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	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					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			10	337						10	337	---	---	---	---	T	197649614	-	T	197649613	7	5	98	1	0	1	1	0	0	0	0	0	6904	1029	36	0	1622	0	GTF3C3	2	197649613	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08	69603378	197649613	45549760	10	34525											
CNTN4	152330	broad.mit.edu	37	chr3	2777910	2777910	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatttcagatgattccacaCtgcatggcccgatttttatt	6	10	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:2777910C>A	ENST00000397461.1	+	4	451	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M|CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	23					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)		TGATTCCACACTGCATGGCCC	0.363																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(67-69)Ctg>Atg		contactin 4							174	167	169					3																	2777910		1850	4085	5935	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2777910C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.67C>A	3.37:g.2777910C>A	ENSP00000380602:p.Leu23Met					CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M|CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M	p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	4	451	+		Ovarian(110;0.156)	23					B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.67C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613697	0.66672	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	T;T;T;T;T	0.68903	-0.31;0.38;0.38;-0.36;0.38	6.07	6.07	0.98685	.	0.226293	0.30003	N	0.010655	T	0.78509	0.4294	L	0.54323	1.7	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62649	0.862;0.905	T	0.74225	-0.3734	10	0.38643	T	0.18	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	23;23	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	M	23;23;23;23;41;23	ENSP00000408594:L23M;ENSP00000396010:L23M;ENSP00000380602:L23M;ENSP00000404085:L41M;ENSP00000413642:L23M	ENSP00000380602:L23M	L	+	1	2	CNTN4	2752910	0.829000	0.29322	0.933000	0.37362	0.903000	0.53119	1.506000	0.35747	2.885000	0.99019	0.655000	0.94253	CTG		0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			13	916	1	0	1.05317e-09	1	1.12143e-09	13	916					A	2777910	C	A	2777910	3	1	98	1	0	0	0	0	1	0	0	0	3652	564	20	3	73	3	CNTN4	3	2777910	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		2777910	195244520	11	34526											
CASR	846	broad.mit.edu	37	chr3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccgggccacgctgcGccgcagcaacgtctcccgca	13	19	1	0	rs567996888		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:122003470G>A	ENST00000490131.1	+	7	3041	c.2669G>A	c.(2668-2670)cGc>cAc	p.R890H	CASR_ENST00000498619.1_Missense_Mutation_p.R900H|AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.R890H	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	890	Interaction with RNF19A.				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)	GCCACGCTGCGCCGCAGCAAC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18372	0.001		0.0	False		,,,				2504	0.0					ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2698-2700)cGc>cAc		calcium-sensing receptor	Cinacalcet(DB01012)						30	31	31					3																	122003470		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003470G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"GPCR / Class C : Calcium-sensing receptors"	1514	protein-coding gene	gene with protein product	"severe neonatal hyperparathyroidism"	601199	"hypocalciuric hypercalcemia 1"	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2669G>A	3.37:g.122003470G>A	ENSP00000418685:p.Arg890His					CASR_ENST00000296154.5_Missense_Mutation_p.R890H|CASR_ENST00000490131.1_Missense_Mutation_p.R890H	p.R900H	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3137	+			890			Interaction with RNF19A.		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2699G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257873	0.80246	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89485	-2.52;-2.52;-2.52	5.89	5.89	0.94794	.	0.050341	0.85682	D	0.000000	D	0.86879	0.6039	L	0.32530	0.975	0.52501	D	0.999953	D;D	0.58620	0.983;0.983	P;P	0.45474	0.482;0.482	D	0.88288	0.2941	10	0.72032	D	0.01	.	19.2448	0.93898	0.0:0.0:1.0:0.0	.	900;890	E7ENE0;P41180	.;CASR_HUMAN	H	890;900;890	ENSP00000418685:R890H;ENSP00000420194:R900H;ENSP00000296154:R890H	ENSP00000296154:R890H	R	+	2	0	CASR	123486160	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.479000	0.81095	2.793000	0.96121	0.561000	0.74099	CGC		0.627	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		4	132	0	0	0	1	0	4	132					A	122003470	G	A	122003470	3	1	98	1	0	0	0	0	1	0	0	0	2689	1087	38	1	2721	1	CASR	3	122003470	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	119225560	122003470	76018960	12	34527											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						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)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	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.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		10	727						10	727	---	---	---	---	-	150877786	C	-	150877786	7	5	98	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-IB-AAUS-01A-12D-A38G-08	28874316	150877786	47144644	13	34528											
MBNL1	4154	broad.mit.edu	37	chr3	152150611	152150611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtcccggcagagatcttgCcgactgcaccaatgttggtt	12	11	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:152150611C>T	ENST00000463374.1	+	3	962	c.451C>T	c.(451-453)Ccg>Tcg	p.P151S	MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.P151S|MBNL1_ENST00000357472.3_Missense_Mutation_p.P151S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P151S|MBNL1_ENST00000485509.1_Missense_Mutation_p.P151S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P151S|MBNL1_ENST00000493459.1_Missense_Mutation_p.P94S|MBNL1_ENST00000492948.1_Missense_Mutation_p.P151S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000498502.1_Missense_Mutation_p.P151S|MBNL1_ENST00000282486.6_Missense_Mutation_p.P151S	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	151					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATCTTGCCGACTGCACC	0.532																																						ENST00000282486.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(451-453)Ccg>Tcg		muscleblind-like splicing regulator 1							125	131	129					3																	152150611		2203	4300	6503	SO:0001583	missense	4154				embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	g.chr3:152150611C>T	Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.451C>T	3.37:g.152150611C>T	ENSP00000418108:p.Pro151Ser					MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000498502.1_Missense_Mutation_p.P151S|MBNL1_ENST00000357472.3_Missense_Mutation_p.P151S|MBNL1_ENST00000324196.5_Missense_Mutation_p.P151S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Missense_Mutation_p.P151S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P151S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000492948.1_Missense_Mutation_p.P151S|MBNL1_ENST00000463374.1_Missense_Mutation_p.P151S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P151S|MBNL1_ENST00000493459.1_Missense_Mutation_p.P94S	p.P151S			Q9NR56	MBNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	2293	+			151					E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	c.451C>T	CCDS3165.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134710	0.94517	.	.	ENSG00000152601	ENST00000282486;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000357472;ENST00000463374;ENST00000492948;ENST00000485509;ENST00000478535	T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	M	0.86953	2.85	0.80722	D	1	D;P;P;D;D;D;D	0.89917	1.0;0.947;0.725;1.0;0.974;1.0;1.0	D;P;P;D;P;D;D	0.91635	0.999;0.677;0.779;0.988;0.742;0.992;0.999	T	0.76102	-0.3082	10	0.59425	D	0.04	-12.4426	18.3327	0.90276	0.0:1.0:0.0:0.0	.	151;151;151;151;94;151;151	C9JP00;E9PBW7;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;MBNL1_HUMAN;.;.;.;.	S	151;151;59;94;151;59;151;151;151;151;151;151;54	ENSP00000282486:P151S;ENSP00000347637:P151S;ENSP00000417741:P59S;ENSP00000419347:P94S;ENSP00000319429:P151S;ENSP00000420680:P59S;ENSP00000420327:P151S;ENSP00000319374:P151S;ENSP00000350064:P151S;ENSP00000418108:P151S;ENSP00000420103:P151S;ENSP00000418876:P151S;ENSP00000418508:P54S	ENSP00000282486:P151S	P	+	1	0	MBNL1	153633301	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.895000	0.75660	2.396000	0.81511	0.563000	0.77884	CCG		0.532	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038		7	734	0	0	0	1	0	7	734					T	152150611	C	T	152150611	3	4	98	1	0	0	0	0	1	0	0	0	9394	739	26	2	461	2	MBNL1	3	152150611	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	1272825	152150611	45871819	14	34529											
PIK3CA	5290	broad.mit.edu	37	chr3	178951974	178951974	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatgatgcttggctctggaaTgccagaactacaatcttttg	9	8	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:178951974T>C	ENST00000263967.3	+	21	3186	c.3029T>C	c.(3028-3030)aTg>aCg	p.M1010T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1010	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGCTCTGGAATGCCAGAACTA	0.383		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3028-3030)aTg>aCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							112	100	104					3																	178951974		1881	4111	5992	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178951974T>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3029T>C	3.37:g.178951974T>C	ENSP00000263967:p.Met1010Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1010T	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3186	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1010			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3029T>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485678	0.44147	.	.	ENSG00000121879	ENST00000263967	T	0.81247	-1.47	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	L	0.50333	1.59	0.80722	D	1	P	0.41784	0.762	B	0.39935	0.314	T	0.81230	-0.1027	10	0.87932	D	0	-19.3218	16.635	0.85050	0.0:0.0:0.0:1.0	.	1010	P42336	PK3CA_HUMAN	T	1010	ENSP00000263967:M1010T	ENSP00000263967:M1010T	M	+	2	0	PIK3CA	180434668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.330000	0.79161	0.477000	0.44152	ATG		0.383	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	354	0	0	0	1	0	7	354					C	178951974	T	C	178951974	3	2	98	1	0	0	0	0	1	0	0	0	11955	1464	51	4	3107	4	PIK3CA	3	178951974	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	26801363	178951974	19070456	15	34530											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444203	15444203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtacacaatgggcaataccGgataaagaccttcgacgcca	10	11	0	1	rs150953206	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:15444203G>A	ENST00000444304.2	+	3	976	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.R224Q|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	217	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				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						GGGCAATACCGGATAAAGACC	0.458													G|||	4	0.000798722	0.0	0.0	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.0041					ENST00000295297.4																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						c.(670-672)cGg>cAg		C1q and tumor necrosis factor related protein 7		G	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	116	120	119		671,650,650	3.9	1	4	dbSNP_134	119	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense,missense	C1QTNF7	NM_001135170.1,NM_001135171.1,NM_031911.4	43,43,43	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	possibly-damaging,possibly-damaging,possibly-damaging	224/297,217/290,217/290	15444203	7,12999	2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444203G>A	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.650G>A	4.37:g.15444203G>A	ENSP00000388914:p.Arg217Gln					C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R217Q|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q	p.R224Q	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN			3	930	+			217			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.671G>A	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276090	0.59649	4.54E-4	5.81E-4	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.74947	-0.89;-0.89;-0.89	5.91	3.88	0.44766	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.208186	0.40469	N	0.001094	T	0.59487	0.2197	L	0.27975	0.815	0.40721	D	0.982661	P	0.42993	0.797	B	0.39531	0.302	T	0.59257	-0.7488	9	.	.	.	.	10.9568	0.47362	0.2194:0.0:0.7806:0.0	.	217	Q9BXJ2	C1QT7_HUMAN	Q	224;217;217	ENSP00000295297:R224Q;ENSP00000410722:R217Q;ENSP00000388914:R217Q	.	R	+	2	0	C1QTNF7	15053301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.162000	0.58177	1.505000	0.48720	0.655000	0.94253	CGG		0.458	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			6	615	0	0	0	1	0	6	615					A	15444203	G	A	15444203	3	1	98	1	0	0	0	0	1	0	0	0	1975	1116	39	1	681	1	C1QTNF7	4	15444203	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		15444203	175710073	16	34531											
ADAM29	11086	broad.mit.edu	37	chr4	175899044	175899044	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagagtcatcctcagTtgacgccttcccagagtcaa	7	15	3	3			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:175899044T>G	ENST00000359240.3	+	5	3038	c.2368T>G	c.(2368-2370)Ttg>Gtg	p.L790V	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.L790V|ADAM29_ENST00000404450.4_Missense_Mutation_p.L790V|ADAM29_ENST00000445694.1_Missense_Mutation_p.L790V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	790	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCATCCTCAGTTGACGCCTTC	0.572																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				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						c.(2368-2370)Ttg>Gtg		ADAM metallopeptidase domain 29							166	154	158					4																	175899044		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899044T>G	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.2368T>G	4.37:g.175899044T>G	ENSP00000352177:p.Leu790Val					RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.L790V|ADAM29_ENST00000445694.1_Missense_Mutation_p.L790V|ADAM29_ENST00000514159.1_Missense_Mutation_p.L790V	p.L790V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		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)	5	3038	+		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)	790			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2368T>G	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.478477	0.00011	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01887	4.58;4.58;4.58;4.58	0.217	-0.433	0.12287	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48801	-0.9003	8	.	.	.	.	5.6986	0.17869	0.0:0.0:0.5241:0.4759	.	790	Q9UKF5	ADA29_HUMAN	V	790	ENSP00000352177:L790V;ENSP00000414544:L790V;ENSP00000384229:L790V;ENSP00000423517:L790V	.	L	+	1	2	ADAM29	176135619	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.167000	0.09940	-2.517000	0.00500	-2.611000	0.00159	TTG		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				9	593	0	0	0	1	0	9	593					G	175899044	T	G	175899044	3	3	98	1	0	0	0	0	1	0	0	0	247	1722	60	4	2370	4	ADAM29	4	175899044	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	160454841	175899044	15255232	17	34532											
TERT	7015	broad.mit.edu	37	chr5	1282622	1282622	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgaaacgtggtctccGtgacataaaagaaagacctg	9	8	2	4			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:1282622G>A	ENST00000310581.5	-	3	1748	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	564					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)	CGTGGTCTCCGTGACATAAAA	0.532									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1690-1692)aCg>aTg		telomerase reverse transcriptase							128	119	122					5																	1282622		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1282622G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1691C>T	5.37:g.1282622G>A	ENSP00000309572:p.Thr564Met					TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		3	1748	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		564					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1691C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769850	0.49680	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	4.64	4.64	0.57946	Telomerase ribonucleoprotein complex - RNA-binding domain (2);	0.048739	0.85682	N	0.000000	D	0.97810	0.9281	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99146	1.0857	10	0.87932	D	0	-3.0526	17.5052	0.87743	0.0:0.0:1.0:0.0	.	564;564;564	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	M	564	ENSP00000309572:T564M;ENSP00000296820:T564M;ENSP00000334346:T564M;ENSP00000426042:T564M	ENSP00000296820:T564M	T	-	2	0	TERT	1335622	1.000000	0.71417	0.978000	0.43139	0.722000	0.41435	6.959000	0.76031	2.115000	0.64714	0.462000	0.41574	ACG		0.532	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	255	0	0	0	1	0	5	255					A	1282622	G	A	1282622	3	1	98	1	0	0	0	0	1	0	0	0	15816	1145	40	1	1763	1	TERT	5	1282622	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		1282622	179632638	18	34533											
DMGDH	29958	broad.mit.edu	37	chr5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggctcaaaccagtttgtgCggcgaaaacttggcctgaaa	11	10	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398																																						ENST00000255189.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1531-1533)cGc>cAc		dimethylglycine dehydrogenase							76	75	76					5																	78326807		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78326807C>T	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1532G>A	5.37:g.78326807C>T	ENSP00000255189:p.Arg511His					DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	p.R511H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	10	1560	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	511					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.1532G>A	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	34	5.357047	0.95854	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.994	D;P;P;P	0.91635	0.999;0.829;0.856;0.722	D	0.94474	0.7687	10	0.72032	D	0.01	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	131;310;361;511	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	H	511;350;310;131;361	ENSP00000255189:R511H;ENSP00000430972:R350H;ENSP00000369667:R310H;ENSP00000439478:R131H	ENSP00000255189:R511H	R	-	2	0	DMGDH	78362563	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.729000	0.84864	2.771000	0.95319	0.563000	0.77884	CGC		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		4	225	0	0	0	1	0	4	225					T	78326807	C	T	78326807	3	4	98	1	0	0	0	0	1	0	0	0	4597	768	27	1	1096	1	DMGDH	5	78326807	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	77044185	78326807	102588453	19	34534											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							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)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	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.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	842						7	842	---	---	---	---	-	124079815	CTC	-	124079813	7	5	98	1	0	1	0	1	0	0	0	0	18087	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-IB-AAUS-01A-12D-A38G-08	45753006	124079813	56835447	20	34535											
ADAMTS19	171019	broad.mit.edu	37	chr5	129030474	129030474	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatatcagcattgtggaCaatgagaaatgcaaatactt	7	5	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:129030474C>A	ENST00000274487.4	+	19	3007	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	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	954	TSP type-1 2. {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)		GCATTGTGGACAATGAGAAAT	0.368																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2860-2862)gaC>gaA		ADAM metallopeptidase with thrombospondin type 1 motif, 19							125	116	119					5																	129030474		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129030474C>A	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.2862C>A	5.37:g.129030474C>A	ENSP00000274487:p.Asp954Glu					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.D954E	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	19	3007	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	954			TSP type-1 2.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2862C>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994870	0.35226	.	.	ENSG00000145808	ENST00000274487	T	0.61040	0.14	4.08	2.31	0.28768	.	0.066129	0.64402	D	0.000018	T	0.36413	0.0966	N	0.16790	0.44	0.40226	D	0.977794	B	0.09022	0.002	B	0.09377	0.004	T	0.10823	-1.0613	9	.	.	.	.	10.5893	0.45300	0.0:0.8397:0.0:0.1603	.	954	Q8TE59	ATS19_HUMAN	E	954	ENSP00000274487:D954E	.	D	+	3	2	ADAMTS19	129058373	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.248000	0.32827	0.692000	0.31613	0.555000	0.69702	GAC		0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		7	444	1	0	2.74318e-10	1	2.94828e-10	7	444					A	129030474	C	A	129030474	3	1	98	1	0	0	0	0	1	0	0	0	264	477	17	3	2936	3	ADAMTS19	5	129030474	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	4950661	129030474	51884786	21	34536											
PCDHA12	56137	broad.mit.edu	37	chr5	140256671	140256671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgacgccggcgtgccgcctct	15	16	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1612-1614)cgC>cgT									76	84	81					5																	140256671		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140256671C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1614C>T	5.37:g.140256671C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	p.R538R	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1614	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1614C>T	CCDS47285.1																																																																																				0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		8	685	0	0	0	1	0	8	685					T	140256671	C	T	140256671	2	4	98	1	0	0	0	0	0	0	0	1	11564	755	27	1		1	PCDHA12	5	140256671	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	11226197	140256671	40658589	22	34537											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347636	140347636	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagcggcccactggacCgagagcgggtggctgtctac	17	11	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140347636C>T	ENST00000289269.5	+	1	1817	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	429	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(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)			CCCACTGGACCGAGAGCGGGT	0.572																																					Melanoma(190;638 2083 3390 11909 52360)	ENST00000289269.5																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1285-1287)Cga>Tga									87	90	89					5																	140347636		2203	4300	6503	SO:0001587	stop_gained	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140347636C>T	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1285C>T	5.37:g.140347636C>T	ENSP00000289269:p.Arg429*					PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron	p.R429*	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1817	+			429			Cadherin 4.		Q2M3V1|Q9Y5F4	Nonsense_Mutation	SNP	ENST00000289269.5	37	c.1285C>T	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	41	8.700697	0.98920	.	.	ENSG00000243232	ENST00000289269	.	.	.	5.79	2.46	0.29980	.	0.000000	0.40064	N	0.001194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4557	0.84012	0.3826:0.6174:0.0:0.0	.	.	.	.	X	429	.	ENSP00000289269:R429X	R	+	1	2	PCDHAC2	140327820	0.745000	0.28261	1.000000	0.80357	0.903000	0.53119	0.052000	0.14163	0.670000	0.31165	0.563000	0.77884	CGA		0.572	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		7	434	0	0	0	1	0	7	434					T	140347636	C	T	140347636	4	4	98	1	0	0	0	0	0	1	0	0	11575	644	23	1	1287	1	PCDHAC2	5	140347636	Nonsense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	90965	140347636	40567624	23	34538											
PCDHB11	56125	broad.mit.edu	37	chr5	140580809	140580809	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaacgcccaggtcaacTactcgctactcccgccccag	7	20	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140580809T>C	ENST00000354757.3	+	1	1462	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	488	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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAACTACTCGCTACT	0.632																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1462-1464)Tac>Cac									136	135	135					5																	140580809		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580809T>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1462T>C	5.37:g.140580809T>C	ENSP00000346802:p.Tyr488His					PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	p.Y488H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1462	+			488			Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1462T>C	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	t	18.67	3.674200	0.67928	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.62941	-0.01;-0.01	2.51	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.85665	0.5749	H	0.99058	4.415	0.37148	D	0.902036	D	0.89917	1.0	D	0.97110	1.0	D	0.89861	0.4016	9	0.87932	D	0	.	10.4143	0.44311	0.0:0.0:0.0:1.0	.	488	Q9Y5F2	PCDBB_HUMAN	H	123;488	ENSP00000440344:Y123H;ENSP00000346802:Y488H	ENSP00000346802:Y488H	Y	+	1	0	PCDHB11	140560993	0.783000	0.28701	0.930000	0.37139	0.067000	0.16453	2.392000	0.44433	1.160000	0.42584	0.248000	0.18094	TAC		0.632	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		18	770	0	0	0	1	0	18	770					C	140580809	T	C	140580809	3	2	98	1	0	0	0	0	1	0	0	0	11578	1522	53	4	1464	4	PCDHB11	5	140580809	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	233173	140580809	40334451	24	34539											
LARP1	23367	broad.mit.edu	37	chr5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-													attacatgcgccggcacccaGggggggaccgcacaggcaac							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:154181822delG	ENST00000336314.4	+	11	1765	c.1741delG	c.(1741-1743)gggfs	p.G582fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659					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)			CCGGCACCCAGGGGGGGACCG	0.547																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1741-1743)ggfs		La ribonucleoprotein domain family, member 1							79	76	77					5																	154181822		2203	4300	6503	SO:0001589	frameshift_variant	23367						protein binding|RNA binding	g.chr5:154181822delG	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.1741delG	5.37:g.154181822delG	ENSP00000336721:p.Gly582fs						p.G582fs	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		11	1765	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	659					O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	ENST00000336314.4	37	c.1741delG	CCDS4328.1																																																																																				0.547	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		7	372						7	372	---	---	---	---	-	154181822	G	-	154181822	7	5	98	1	0	1	0	1	0	0	0	0	8659	1000	35	0	1783	0	LARP1	5	154181822	Frame_Shift_Del	DEL	G	TCGA-IB-AAUS-01A-12D-A38G-08	13601013	154181822	26733438	25	34540											
GABRA6	2559	broad.mit.edu	37	chr5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacgatggatgtttttttcCgccagacctggactgatgag	11	8	0	3			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000523217.1_Intron|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR			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)	TGTTTTTTTCCGCCAGACCTG	0.408										TCGA Ovarian(5;0.080)																												ENST00000274545.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(250-252)Cgc>Tgc		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						81	83	82					5																	161115979		2203	4299	6502	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161115979C>T		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.250C>T	5.37:g.161115979C>T	ENSP00000274545:p.Arg84Cys	TCGA Ovarian(5;0.080)				GABRA6_ENST00000523217.1_Intron|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR	p.R84C			Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	683	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	84					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.250C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915608	0.92178	.	.	ENSG00000145863	ENST00000274545;ENST00000517823	T;T	0.80566	-1.39;-1.39	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94213	0.7460	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	84	Q16445	GBRA6_HUMAN	C	84;31	ENSP00000274545:R84C;ENSP00000430212:R31C	ENSP00000274545:R84C	R	+	1	0	GABRA6	161048557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.843000	0.69424	2.824000	0.97209	0.655000	0.94253	CGC		0.408	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			7	476	0	0	0	1	0	7	476					T	161115979	C	T	161115979	3	4	98	1	0	0	0	0	1	0	0	0	6192	652	23	1	264	1	GABRA6	5	161115979	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	6934157	161115979	19799281	26	34541											
GRM4	2914	broad.mit.edu	37	chr6	34003844	34003844	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accgagcgcttgccctgctcGaagatgcggtagatgcggtt	14	11	0	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:34003844G>A	ENST00000538487.2	-	9	2486	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000374181.4_Silent_p.F681F|GRM4_ENST00000535756.1_Silent_p.F548F|GRM4_ENST00000609222.1_Silent_p.F548F|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000544773.2_Silent_p.F512F|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	681					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGCCCTGCTCGAAGATGCGGT	0.617																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2041-2043)ttC>ttT		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						135	139	137					6																	34003844		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003844G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2043C>T	6.37:g.34003844G>A						GRM4_ENST00000544773.1_Silent_p.F512F|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000545715.1_Silent_p.F373F|GRM4_ENST00000538487.1_Silent_p.F681F|GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000535756.1_Silent_p.F548F	p.F681F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2212	-			681					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	ENST00000538487.2	37	c.2043C>T	CCDS4787.1																																																																																				0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			6	367	0	0	0	1	0	6	367					A	34003844	G	A	34003844	2	1	98	1	0	0	0	0	0	0	0	1	6829	1049	37	1		1	GRM4	6	34003844	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		34003844	137111223	27	34542											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	8	2	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		11	693	0	0	0	1	0	11	693					T	108214765	A	T	108214765	4	4	98	1	0	0	0	0	0	1	0	0	14055	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-IB-AAUS-01A-12D-A38G-08	74210921	108214765	62900302	28	34543											
WTAP	9589	broad.mit.edu	37	chr6	160174502	160174502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgcagccaaacagggAaaaagttaatggcgaagtgt	11	7	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:160174502A>G	ENST00000358372.4	+	7	2220	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	155					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)		CCAAACAGGGAAAAAGTTAAT	0.428																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(463-465)Aaa>Gaa		Wilms tumor 1 associated protein							117	111	113					6																	160174502		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174502A>G	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.463A>G	6.37:g.160174502A>G	ENSP00000351141:p.Lys155Glu					SOD2_ENST00000546087.1_Intron	p.K155E	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	2220	+		Breast(66;0.000776)|Ovarian(120;0.0303)	155					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.463A>G	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	A	35	5.470230	0.96274	.	.	ENSG00000146457	ENST00000358372	T	0.51574	0.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.987	T	0.71272	-0.4642	10	0.51188	T	0.08	-4.8657	16.8222	0.85835	1.0:0.0:0.0:0.0	.	155;155	A8K489;Q15007	.;FL2D_HUMAN	E	155	ENSP00000351141:K155E	ENSP00000351141:K155E	K	+	1	0	WTAP	160094492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	2.371000	0.80710	0.533000	0.62120	AAA		0.428	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		4	220	0	0	0	1	0	4	220					G	160174502	A	G	160174502	3	3	98	1	0	0	0	0	1	0	0	0	17463	247	9	4	489	4	WTAP	6	160174502	Missense_Mutation	SNP	A	TCGA-IB-AAUS-01A-12D-A38G-08	51959737	160174502	10940565	29	34544											
OSBPL3	26031	broad.mit.edu	37	chr7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcgttcagctccaccgGcatggccaccttggacaggt	13	14	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:24874215G>A	ENST00000313367.2	-	15	2087	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1636-1638)Ccg>Tcg		oxysterol binding protein-like 3							90	75	80					7																	24874215		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24874215G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1636C>T	7.37:g.24874215G>A	ENSP00000315410:p.Pro546Ser					OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S	p.P546S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			15	2087	-			546					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1636C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311061	0.95629	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.95382	0.8474	10	0.87932	D	0	-19.2119	20.1699	0.98157	0.0:0.0:1.0:0.0	.	479;510;479;515;510;546	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	S	546;515;510;479;515;510;479	ENSP00000315410:P546S;ENSP00000315331:P515S;ENSP00000315277:P510S;ENSP00000389779:P479S;ENSP00000379708:P515S;ENSP00000379706:P510S;ENSP00000386953:P479S	ENSP00000315410:P546S	P	-	1	0	OSBPL3	24840740	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.799000	0.99117	2.775000	0.95449	0.467000	0.42956	CCG		0.632	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			5	321	0	0	0	1	0	5	321					A	24874215	G	A	24874215	3	1	98	1	0	0	0	0	1	0	0	0	11321	1203	42	2	1063	2	OSBPL3	7	24874215	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		24874215	134264448	30	34545											
EPDR1	54749	broad.mit.edu	37	chr7	37989894	37989894	+	Frame_Shift_Del	DEL	T	T	-													gtgtgatattgtctacgcggTtttttgacatccagctgggt							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:37989894delT	ENST00000199448.4	+	3	950	c.571delT	c.(571-573)tttfs	p.F192fs	EPDR1_ENST00000559325.1_Frame_Shift_Del_p.F312fs|EPDR1_ENST00000476620.1_Frame_Shift_Del_p.F90fs|EPDR1_ENST00000425345.1_Frame_Shift_Del_p.F131fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	192					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GTCTACGCGGTTTTTTGACAT	0.468																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(571-573)ttfs		ependymin related 1							64	63	63					7																	37989894		2203	4300	6503	SO:0001589	frameshift_variant	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37989894delT	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.571delT	7.37:g.37989894delT	ENSP00000199448:p.Phe192fs					EPDR1_ENST00000476620.1_Frame_Shift_Del_p.F90fs|EPDR1_ENST00000425345.1_Frame_Shift_Del_p.F131fs|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.F312fs	p.F192fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			3	950	+			192					A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Del	DEL	ENST00000199448.4	37	c.571delT	CCDS5454.2																																																																																				0.468	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		8	415						8	415	---	---	---	---	-	37989894	T	-	37989894	7	5	98	1	0	1	0	1	0	0	0	0	5181	1725	60	0	941	0	EPDR1	7	37989894	Frame_Shift_Del	DEL	T	TCGA-IB-AAUS-01A-12D-A38G-08	13115679	37989894	121148769	31	34546											
COBL	23242	broad.mit.edu	37	chr7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctcccctagggggttccGgccctcatggtgggcagact	13	16	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:51096317G>A	ENST00000265136.7	-	10	2641	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W	COBL_ENST00000395542.2_Missense_Mutation_p.R908W	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	826					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGGTTCCGGCCCTCATGG	0.622																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2722-2724)Cgg>Tgg		cordon-bleu WH2 repeat protein							55	57	56					7																	51096317		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096317G>A	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.2476C>T	7.37:g.51096317G>A	ENSP00000265136:p.Arg826Trp					COBL_ENST00000265136.7_Missense_Mutation_p.R826W	p.R908W			O75128	COBL_HUMAN			12	2906	-	Glioma(55;0.08)		826					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2722C>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521241	0.44866	.	.	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.12774	2.66;2.66;2.65;2.65	5.2	2.41	0.29592	.	0.935820	0.08832	N	0.887110	T	0.16428	0.0395	N	0.22421	0.69	0.09310	N	1	D;D;D;D;P	0.69078	0.997;0.997;0.996;0.979;0.924	P;P;P;B;B	0.55923	0.787;0.787;0.617;0.409;0.409	T	0.21655	-1.0239	10	0.66056	D	0.02	.	5.3882	0.16229	0.0:0.6034:0.1544:0.2423	.	826;883;826;908;368	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	W	826;718;711;908	ENSP00000265136:R826W;ENSP00000401204:R718W;ENSP00000413498:R711W;ENSP00000378912:R908W	ENSP00000265136:R826W	R	-	1	2	COBL	51063811	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.260000	0.18424	0.205000	0.20568	-0.344000	0.07964	CGG		0.622	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		4	162	0	0	0	1	0	4	162					A	51096317	G	A	51096317	3	1	98	1	0	0	0	0	1	0	0	0	3662	1115	39	1	1325	1	COBL	7	51096317	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	13106423	51096317	108042346	32	34547											
AKAP9	10142	broad.mit.edu	37	chr7	91714155	91714155	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctggatcagactggggtcaGggaatttatcttacacacag	11	8	4	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:91714155G>A	ENST00000359028.2	+	35	8970	c.8745G>A	c.(8743-8745)caG>caA	p.Q2915Q	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.Q2911Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2915					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)			ACTGGGGTCAGGGAATTTATC	0.348			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8743-8745)caG>caA		A kinase (PRKA) anchor protein 9							107	111	110					7																	91714155		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91714155G>A	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.8745G>A	7.37:g.91714155G>A						AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.Q2911Q	p.Q2915Q			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		35	8970	+	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)		2915					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.8745G>A		.	.	.	.	.	.	.	.	.	.	G	8.390	0.839502	0.16891	.	.	ENSG00000127914	ENST00000435423	.	.	.	4.77	0.0786	0.14413	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	.	0.8096	0.01091	0.436:0.1721:0.2181:0.1738	.	.	.	.	K	56	.	.	R	+	2	0	AKAP9	91552091	0.986000	0.35501	0.999000	0.59377	0.989000	0.77384	0.048000	0.14078	0.155000	0.19261	0.561000	0.74099	AGG		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		13	620	0	0	0	1	0	13	620					A	91714155	G	A	91714155	2	1	98	1	0	0	0	0	0	0	0	1	459	991	35	2		2	AKAP9	7	91714155	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	40617838	91714155	67424508	33	34548											
TRRAP	8295	broad.mit.edu	37	chr7	98573795	98573795	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagcgctgctcagcgctttCgttcagctgtgccacatttc	11	13	2	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:98573795C>T	ENST00000359863.4	+	53	8051	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F	TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2614					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)			TCAGCGCTTTCGTTCAGCTGT	0.567																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7840-7842)ttC>ttT		transformation/transcription domain-associated protein							113	100	104					7																	98573795		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98573795C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7842C>T	7.37:g.98573795C>T						TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	p.F2614F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		53	8051	+	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)		2614					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.7842C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287598	0.23478	.	.	ENSG00000196367	ENST00000456197	.	.	.	6.06	0.591	0.17465	.	.	.	.	.	T	0.57917	0.2086	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50508	-0.8820	4	.	.	.	.	9.9707	0.41752	0.0:0.372:0.0:0.628	.	.	.	.	L	2336	.	.	S	+	2	0	TRRAP	98411731	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	0.961000	0.29267	-0.129000	0.11620	-0.345000	0.07892	TCG		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		13	374	0	0	0	1	0	13	374					T	98573795	C	T	98573795	2	4	98	1	0	0	0	0	0	0	0	1	16654	883	31	1		1	TRRAP	7	98573795	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	6859640	98573795	60564868	34	34549											
OR6B1	135946	broad.mit.edu	37	chr7	143701160	143701160	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgggagcttgagtatgcGggcagccatgtttctgatat	13	9	1	2	rs375787820		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:143701160G>A	ENST00000408922.2	+	1	139	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	24						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)					TTGAGTATGCGGGCAGCCATG	0.502																																						ENST00000408922.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27						c.(70-72)cGg>cAg		olfactory receptor, family 6, subfamily B, member 1		G	GLN/ARG	1,3975		0,1,1987	113	106	108		71	1.5	0.1	7		108	0,8356		0,0,4178	no	missense	OR6B1	NM_001005281.1	43	0,1,6165	AA,AG,GG		0.0,0.0252,0.0081	benign	24/312	143701160	1,12331	1988	4178	6166	SO:0001583	missense	135946				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143701160G>A		CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.71G>A	7.37:g.143701160G>A	ENSP00000386151:p.Arg24Gln						p.R24Q	NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN			1	139	+	Melanoma(164;0.0783)		24					A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	ENST00000408922.2	37	c.71G>A	CCDS43667.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.774575	0.00640	2.52E-4	0.0	ENSG00000221813	ENST00000408922	T	0.00211	8.54	5.37	1.53	0.23141	.	0.295013	0.17555	U	0.170002	T	0.00039	0.0001	N	0.01015	-1.05	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.02654	T	1	.	7.8985	0.29721	0.4139:0.0:0.5861:0.0	.	24	O95007	OR6B1_HUMAN	Q	24	ENSP00000386151:R24Q	ENSP00000386151:R24Q	R	+	2	0	OR6B1	143332093	0.146000	0.22672	0.124000	0.21820	0.227000	0.25037	2.922000	0.48860	0.404000	0.25506	-0.252000	0.11476	CGG		0.502	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349566.1			9	395	0	0	0	1	0	9	395					A	143701160	G	A	143701160	3	1	98	1	0	0	0	0	1	0	0	0	11229	1116	39	1	73	1	OR6B1	7	143701160	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	45127365	143701160	15437503	35	34550											
MLL3	58508	broad.mit.edu	37	chr7	151877209	151877209	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatttcacgtaacttctgCcgctaaatgggaagaaacaa	8	8	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:151877209C>A	ENST00000262189.6	-	37	7370	c.7152G>T	c.(7150-7152)cgG>cgT	p.R2384R	KMT2C_ENST00000355193.2_Silent_p.R2384R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2384					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)										GTAACTTCTGCCGCTAAATGG	0.433																																						ENST00000355193.2																			0											c.(7150-7152)cgG>cgT		lysine (K)-specific methyltransferase 2C							151	142	145					7																	151877209		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151877209C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7152G>T	7.37:g.151877209C>A						KMT2C_ENST00000262189.6_Silent_p.R2384R	p.R2384R							37	7370	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.7152G>T	CCDS5931.1																																																																																				0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	612	1	0	2.17888e-05	1	2.27792e-05	9	612					A	151877209	C	A	151877209	2	1	98	1	0	0	0	0	0	0	0	1	9663	726	26	3		3	MLL3	7	151877209	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	8176049	151877209	7261454	36	34551											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23054711	23054711	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagacccttcagcttctgCcggtccctgtaacacacagt	8	15	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:23054711C>T	ENST00000221132.3	-	9	1085	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	341					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCAGCTTCTGCCGGTCCCTGT	0.557																																						ENST00000221132.3																			0				NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(1021-1023)Gca>Aca		tumor necrosis factor receptor superfamily, member 10a							139	120	126					8																	23054711		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23054711C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1021G>A	8.37:g.23054711C>T	ENSP00000221132:p.Ala341Thr						p.A341T	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	9	1085	-		Prostate(55;0.0421)|Breast(100;0.14)	341					A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.1021G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263348	0.39995	.	.	ENSG00000104689	ENST00000221132	D	0.85013	-1.93	2.81	0.762	0.18454	.	7.483190	0.00772	U	0.001204	D	0.90356	0.6982	M	0.67397	2.05	0.09310	N	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70132	-0.4956	10	0.72032	D	0.01	.	4.3919	0.11344	0.0:0.5647:0.2773:0.158	.	341	O00220	TR10A_HUMAN	T	341	ENSP00000221132:A341T	ENSP00000221132:A341T	A	-	1	0	TNFRSF10A	23110656	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.658000	0.05329	0.023000	0.15187	0.491000	0.48974	GCA		0.557	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		5	419	0	0	0	1	0	5	419					T	23054711	C	T	23054711	3	4	98	1	0	0	0	0	1	0	0	0	16332	739	26	2	393	2	TNFRSF10A	8	23054711	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		23054711	123309311	37	34552											
PLEC	5339	broad.mit.edu	37	chr8	145024775	145024775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatgggggtgcaagctgcGgggccgccggtccttcttgg	17	12	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:145024775G>A	ENST00000322810.4	-	1	269	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	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						TGCAAGCTGCGGGGCCGCCGG	0.692																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(100-102)Cgc>Tgc		plectin							10	15	13					8																	145024775		2076	4177	6253	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145024775G>A	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.100C>T	8.37:g.145024775G>A	ENSP00000323856:p.Arg34Cys					PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron	p.R34C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			1	269	-			34			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.100C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.088025	0.36855	.	.	ENSG00000178209	ENST00000322810	T	0.76839	-1.05	4.9	4.9	0.64082	Plectin/S10, N-terminal (1);	0.165072	0.26927	U	0.021791	T	0.69477	0.3115	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.51229	0.663	T	0.77413	-0.2597	10	0.87932	D	0	.	15.5576	0.76208	0.0:0.0:1.0:0.0	.	34	Q15149	PLEC_HUMAN	C	34	ENSP00000323856:R34C	ENSP00000323856:R34C	R	-	1	0	PLEC	145096763	1.000000	0.71417	0.956000	0.39512	0.376000	0.30014	6.369000	0.73109	2.263000	0.75096	0.563000	0.77884	CGC		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	25	0	0	0	1	0	3	25					A	145024775	G	A	145024775	3	1	98	1	0	0	0	0	1	0	0	0	12094	1116	39	1	14462	1	PLEC	8	145024775	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	121970064	145024775	1339247	38	34553											
TMC1	117531	broad.mit.edu	37	chr9	75355041	75355041	+	Frame_Shift_Del	DEL	A	A	-													ttttattttctcagggaggcAaaaaaatttgtgagtgaaaa							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:75355041delA	ENST00000297784.5	+	9	909	c.369delA	c.(367-369)gcafs	p.A123fs	TMC1_ENST00000340019.3_Frame_Shift_Del_p.A123fs|TMC1_ENST00000396237.3_Frame_Shift_Del_p.A123fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	123	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGGGAGGCAAAAAAATTTG	0.373																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(367-369)gcfs		transmembrane channel-like 1							69	71	70					9																	75355041		2203	4300	6503	SO:0001589	frameshift_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75355041delA	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.369delA	9.37:g.75355041delA	ENSP00000297784:p.Ala123fs					TMC1_ENST00000396237.3_Frame_Shift_Del_p.A123fs|TMC1_ENST00000340019.3_Frame_Shift_Del_p.A123fs	p.A123fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			9	909	+			123			Arg/Asp/Glu/Lys-rich (highly charged).		A8MVZ2|B1AM91	Frame_Shift_Del	DEL	ENST00000297784.5	37	c.369delA	CCDS6643.1																																																																																				0.373	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			7	272						7	272	---	---	---	---	-	75355041	A	-	75355041	7	5	98	1	0	1	0	1	0	0	0	0	16036	117	5	0	387	0	TMC1	9	75355041	Frame_Shift_Del	DEL	A	TCGA-IB-AAUS-01A-12D-A38G-08		75355041	65858390	39	34554											
FLJ46321	389763	broad.mit.edu	37	chr9	84607903	84607903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtttgagcaagaaatttgagGaaatcaatgagggtcgaatg	13	3	1	4	rs568626063	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:84607903G>A	ENST00000344803.2	+	4	2565	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	840					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAATTTGAGGAAATCAATGA	0.443													G|||	6	0.00119808	0.0008	0.0058	5008	,	,		20694	0.0		0.001	False		,,,				2504	0.0					ENST00000344803.2																			0											c.(2518-2520)Gaa>Aaa		SPATA31 subfamily D, member 1							94	85	88					9																	84607903		1874	4101	5975	SO:0001583	missense	389763							g.chr9:84607903G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2518G>A	9.37:g.84607903G>A	ENSP00000341988:p.Glu840Lys						p.E840K	NM_001001670.2	NP_001001670.1					4	2565	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2518G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119845	0.37436	.	.	ENSG00000214929	ENST00000344803	T	0.08458	3.09	2.7	-2.15	0.07102	.	1.074330	0.07204	N	0.858027	T	0.08802	0.0218	M	0.64404	1.975	0.09310	N	1	P	0.35542	0.508	B	0.36845	0.234	T	0.34004	-0.9846	10	0.66056	D	0.02	-3.9222	0.5637	0.00683	0.2548:0.2456:0.3205:0.1792	.	840	Q6ZQQ2	F75D1_HUMAN	K	840	ENSP00000341988:E840K	ENSP00000341988:E840K	E	+	1	0	FAM75D1	83797723	0.297000	0.24408	0.003000	0.11579	0.003000	0.03518	0.083000	0.14871	-0.473000	0.06871	-0.253000	0.11424	GAA		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		5	279	0	0	0	1	0	5	279					A	84607903	G	A	84607903	3	1	98	1	0	0	0	0	1	0	0	0	5957	1175	41	2	2532	2	FLJ46321	9	84607903	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	9252862	84607903	56605528	40	34555											
NANS	54187	broad.mit.edu	37	chr9	100843173	100843173	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatagcgatatctgtggccGcagtggctctgggggccaag	16	10	2	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:100843173G>A	ENST00000210444.5	+	5	749	c.679G>A	c.(679-681)Gca>Aca	p.A227T	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	227					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)				ATCTGTGGCCGCAGTGGCTCT	0.498																																						ENST00000210444.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(679-681)Gca>Aca		N-acetylneuraminic acid synthase							80	79	79					9																	100843173		2203	4300	6503	SO:0001583	missense	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100843173G>A	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.679G>A	9.37:g.100843173G>A	ENSP00000210444:p.Ala227Thr					TRIM14_ENST00000478530.1_5'UTR|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	p.A227T	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN			5	749	+		Acute lymphoblastic leukemia(62;0.0559)	227					B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	ENST00000210444.5	37	c.679G>A	CCDS6733.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789100	0.90367	.	.	ENSG00000095380	ENST00000210444;ENST00000415280;ENST00000427646	T;T;T	0.69685	-0.42;-0.42;-0.42	5.57	4.68	0.58851	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84969	0.5590	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.966	D	0.88746	0.3247	10	0.87932	D	0	-17.8373	14.0799	0.64914	0.0:0.0:0.8483:0.1517	.	63;227	E9PGK0;Q9NR45	.;SIAS_HUMAN	T	227;86;35	ENSP00000210444:A227T;ENSP00000404107:A86T;ENSP00000404642:A35T	ENSP00000210444:A227T	A	+	1	0	NANS	99882994	1.000000	0.71417	0.240000	0.24138	0.946000	0.59487	9.441000	0.97557	1.508000	0.48769	0.650000	0.86243	GCA		0.498	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1	NM_018946		5	463	0	0	0	1	0	5	463					A	100843173	G	A	100843173	3	1	98	1	0	0	0	0	1	0	0	0	10196	1087	38	1	697	1	NANS	9	100843173	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	16235270	100843173	40370258	41	34556											
CEL	1056	broad.mit.edu	37	chr9	135946855	135946856	+	Frame_Shift_Ins	INS	-	-	C													gcccacgggtgactccggggINSccccccccgtgccgcccacg					rs587780309		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:135946855_135946856insC	ENST00000372080.4	+	11	1991_1992	c.1975_1976insC	c.(1975-1977)gccfs	p.A659fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.A590fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	656	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGTG	0.856																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(1975-1977)cccfs		carboxyl ester lipase																																				SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135946855_135946856insC	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.1983dupC	9.37:g.135946863_135946863dupC	ENSP00000361151:p.Ala659fs					CEL_ENST00000351304.7_Frame_Shift_Ins_p.P590fs	p.P659fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	1991_1992	+			656			17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Ins	INS	ENST00000372080.4	37	c.1975_1976insC	CCDS43896.1																																																																																				0.856	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			3	4						3	4	---	---	---	---	C	135946856	-	C	135946855	7	5	98	1	0	1	1	0	0	0	0	0	3218	1203	42	0	2017	0	CEL	9	135946855	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08	35103682	135946855	5266576	42	34557											
SEC16A	9919	broad.mit.edu	37	chr9	139370989	139370989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtctgcttctagcgggGcacagccagacccggcccca	12	16	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:139370989G>A	ENST00000371706.3	-	1	578	c.545C>T	c.(544-546)gCc>gTc	p.A182V	SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V|SEC16A_ENST00000313050.7_Missense_Mutation_p.A360V			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	182					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)		TTCTAGCGGGGCACAGCCAGA	0.607																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1078-1080)gCc>gTc		SEC16 homolog A (S. cerevisiae)							16	17	17					9																	139370989		1849	4098	5947	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139370989G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.545C>T	9.37:g.139370989G>A	ENSP00000360771:p.Ala182Val					SEC16A_ENST00000371706.3_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V	p.A360V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	1152	-		Myeloproliferative disorder(178;0.0511)	182					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.1079C>T		.	.	.	.	.	.	.	.	.	.	G	11.22	1.574576	0.28092	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.24350	1.89;1.86;1.86;1.87	4.78	-1.84	0.07809	.	1.706090	0.03038	N	0.153015	T	0.08846	0.0219	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.08055	0.001;0.003;0.003	T	0.21999	-1.0229	10	0.23302	T	0.38	.	5.9374	0.19173	0.5872:0.1539:0.2589:0.0	.	360;182;182	F1T0I1;O15027-5;O15027-4	.;.;.	V	360;182;182;182	ENSP00000325827:A360V;ENSP00000360771:A182V;ENSP00000290037:A182V;ENSP00000387583:A182V	ENSP00000290037:A182V	A	-	2	0	SEC16A	138490810	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	1.309000	0.33539	-0.036000	0.13669	-0.812000	0.03155	GCC		0.607	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		4	109	0	0	0	1	0	4	109					A	139370989	G	A	139370989	3	1	98	1	0	0	0	0	1	0	0	0	14036	1203	42	2	6114	2	SEC16A	9	139370989	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	3424134	139370989	1842442	43	34558											
C10orf18	54906	broad.mit.edu	37	chr10	5789903	5789903	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgaggaaattgtctcaagtGagcatgatgagggtttatct	12	5	2	4			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:5789903G>A	ENST00000328090.5	+	15	5144	c.4519G>A	c.(4519-4521)Gag>Aag	p.E1507K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1507																	TGTCTCAAGTGAGCATGATGA	0.473																																						ENST00000328090.5																			0											c.(4519-4521)Gag>Aag		family with sequence similarity 208, member B							62	62	62					10																	5789903		1931	4132	6063	SO:0001583	missense	54906							g.chr10:5789903G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.4519G>A	10.37:g.5789903G>A	ENSP00000328426:p.Glu1507Lys						p.E1507K	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	5144	+			1507					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.4519G>A	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	3.982	-0.006255	0.07773	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04917	3.53	5.39	-1.85	0.07784	.	0.464108	0.19978	N	0.101822	T	0.03783	0.0107	L	0.39633	1.23	0.09310	N	1	B	0.17852	0.024	B	0.15052	0.012	T	0.42716	-0.9435	10	0.15066	T	0.55	.	3.0485	0.06161	0.3812:0.0:0.3045:0.3142	.	1507	Q5VWN6	F208B_HUMAN	K	1507;702	ENSP00000328426:E1507K	ENSP00000328426:E1507K	E	+	1	0	C10orf18	5829909	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.263000	0.18478	-0.004000	0.14419	-0.140000	0.14226	GAG		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		5	211	0	0	0	1	0	5	211					A	5789903	G	A	5789903	3	1	98	1	0	0	0	0	1	0	0	0	1601	1291	45	2	4565	2	C10orf18	10	5789903	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		5789903	129744844	44	34559											
DNAJC12	56521	broad.mit.edu	37	chr10	69565430	69565433	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													ctgcggttgaagccagctccTctttctttctttctctttgc							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:69565430_69565433delTCTT	ENST00000225171.2	-	4	562_565	c.410_413delAAGA	c.(409-414)aaagagfs	p.KE137fs	DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs|RNU6-1250P_ENST00000391218.1_RNA	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	137										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AGCCAGCTCCTCTTTCTTTCTTTC	0.446																																						ENST00000225171.2																			0				breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						c.(409-414)agfs		DnaJ (Hsp40) homolog, subfamily C, member 12																																				SO:0001589	frameshift_variant	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69565430_69565433delTCTT	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.410_413delAAGA	10.37:g.69565438_69565441delTCTT	ENSP00000225171:p.Lys137fs					DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs	p.KE137fs	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN			4	562_565	-			137					Q5JVQ1|Q9UKB2	Frame_Shift_Del	DEL	ENST00000225171.2	37	c.410_413delAAGA	CCDS7271.1																																																																																				0.446	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		8	1086						8	1086	---	---	---	---	-	69565433	TCTT	-	69565430	7	5	98	1	0	1	0	1	0	0	0	0	4647	1551	54	0	191	0	DNAJC12	10	69565430	Frame_Shift_Del	DEL	TCTT	TCGA-IB-AAUS-01A-12D-A38G-08	63775527	69565430	65969317	45	34560											
KCNMA1	3778	broad.mit.edu	37	chr10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggagcccccgtatttcttgCggtttcctattaactctatg	8	11	2	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:78868281C>T	ENST00000286628.8	-	9	1180	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	394					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)	GTATTTCTTGCGGTTTCCTAT	0.468																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(1180-1182)cGc>cAc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						116	115	116					10																	78868281		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78868281C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1181G>A	10.37:g.78868281C>T	ENSP00000286628:p.Arg394His					KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H	p.R394H	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		9	2133	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		394					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1181G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.003054|5.003054	0.93287|0.93287	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.86366	.|-2.1;-2.07;-2.08;-2.09;-2.1;-2.1;-2.1;-2.11;-2.09	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92805|0.92805	0.7712|0.7712	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;P	.|0.89917	.|1.0;0.979;0.988;1.0;0.988;0.911;0.895	.|D;B;P;D;P;P;B	.|0.91635	.|0.999;0.372;0.674;0.991;0.576;0.557;0.372	D|D	0.92656|0.92656	0.6137|0.6137	5|10	.|0.87932	.|D	.|0	-11.5534|-11.5534	20.3248|20.3248	0.98698|0.98698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|394;394;394;394;394;176;394	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	T|H	345|394;331;329;368;331;394;394;368;394;394;394;176	.|ENSP00000361517:R394H;ENSP00000361485:R331H;ENSP00000361514:R329H;ENSP00000396608:R368H;ENSP00000361520:R394H;ENSP00000286627:R394H;ENSP00000385552:R394H;ENSP00000346321:R394H;ENSP00000385806:R394H	.|ENSP00000286627:R394H	A|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78538287|78538287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.468	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		6	461	0	0	0	1	0	6	461					T	78868281	C	T	78868281	3	4	98	1	0	0	0	0	1	0	0	0	8103	768	27	1	2781	1	KCNMA1	10	78868281	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	9302851	78868281	56666466	46	34561											
HECTD2	143279	broad.mit.edu	37	chr10	93261004	93261004	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaagaagttgctacAttttactacagggagtgaca	8	7	2	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:93261004A>G	ENST00000298068.5	+	20	2217	c.2123A>G	c.(2122-2124)cAt>cGt	p.H708R	HECTD2_ENST00000446394.1_Missense_Mutation_p.H712R|HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R|HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	708	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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AAGTTGCTACATTTTACTACA	0.353																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(2134-2136)cAt>cGt		HECT domain containing E3 ubiquitin protein ligase 2							143	142	143					10																	93261004		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93261004A>G	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.2123A>G	10.37:g.93261004A>G	ENSP00000298068:p.His708Arg					HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R|HECTD2_ENST00000298068.5_Missense_Mutation_p.H708R|HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R	p.H712R			Q5U5R9	HECD2_HUMAN			21	2235	+			708			HECT.		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.2135A>G	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.198465	0.38806	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.73	5.73	0.89815	HECT (4);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	N	0.02181	-0.65	0.54753	D	0.999988	B;B	0.17667	0.001;0.023	B;B	0.15870	0.002;0.014	T	0.24368	-1.0162	10	0.07030	T	0.85	.	14.5862	0.68326	1.0:0.0:0.0:0.0	.	712;708	E7ERR3;Q5U5R9	.;HECD2_HUMAN	R	712;708;297;358	ENSP00000401023:H712R;ENSP00000298068:H708R;ENSP00000439687:H297R;ENSP00000360731:H358R	ENSP00000298068:H708R	H	+	2	0	HECTD2	93250984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.837000	0.75354	2.180000	0.69256	0.533000	0.62120	CAT		0.353	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			13	397	0	0	0	1	0	13	397					G	93261004	A	G	93261004	3	3	98	1	0	0	0	0	1	0	0	0	7070	217	8	4	2225	4	HECTD2	10	93261004	Missense_Mutation	SNP	A	TCGA-IB-AAUS-01A-12D-A38G-08	14392723	93261004	42273743	47	34562											
MICAL2	9645	broad.mit.edu	37	chr11	12231128	12231128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcattggtgccgatggccGcaggaacaccctggaaggtg	14	11	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:12231128G>A	ENST00000256194.4	+	6	962	c.674G>A	c.(673-675)cGc>cAc	p.R225H	MICAL2_ENST00000379612.3_Missense_Mutation_p.R225H|MICAL2_ENST00000537344.1_Missense_Mutation_p.R225H|MICAL2_ENST00000342902.5_Missense_Mutation_p.R225H|MICAL2_ENST00000527546.1_Missense_Mutation_p.R225H	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	225	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)		GCCGATGGCCGCAGGAACACC	0.527																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(673-675)cGc>cAc		microtubule associated monooxygenase, calponin and LIM domain containing 2							129	118	122					11																	12231128		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12231128G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.674G>A	11.37:g.12231128G>A	ENSP00000256194:p.Arg225His					MICAL2_ENST00000342902.5_Missense_Mutation_p.R225H|MICAL2_ENST00000379612.3_Missense_Mutation_p.R225H|MICAL2_ENST00000527546.1_Missense_Mutation_p.R225H|MICAL2_ENST00000537344.1_Missense_Mutation_p.R225H	p.R225H	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	6	962	+			225					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.674G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054766	0.55325	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.3	4.38	0.52667	Aromatic-ring hydroxylase-like (1);	0.135126	0.47093	N	0.000256	T	0.11410	0.0278	M	0.65975	2.015	0.42116	D	0.991403	B;B;B;B;B	0.29115	0.233;0.12;0.037;0.076;0.039	B;B;B;B;B	0.23716	0.048;0.022;0.021;0.016;0.014	T	0.03212	-1.1060	10	0.48119	T	0.1	.	12.8422	0.57809	0.0803:0.0:0.9197:0.0	.	225;225;225;225;225	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	H	225	ENSP00000441689:R225H;ENSP00000256194:R225H;ENSP00000433965:R225H;ENSP00000344894:R225H;ENSP00000368932:R225H	ENSP00000256194:R225H	R	+	2	0	MICAL2	12187704	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.573000	0.74009	1.438000	0.47492	0.557000	0.71058	CGC		0.527	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		5	320	0	0	0	1	0	5	320					A	12231128	G	A	12231128	3	1	98	1	0	0	0	0	1	0	0	0	9611	1087	38	1	688	1	MICAL2	11	12231128	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		12231128	122775388	48	34563											
TTC17	55761	broad.mit.edu	37	chr11	43419628	43419628	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatgctgtcctatgtcaGcaaaaactggagcagaaatt	9	8	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:43419628G>A	ENST00000039989.4	+	8	1037	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Silent_p.Q341Q	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	341					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCCTATGTCAGCAAAAACTGG	0.438																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1021-1023)caG>caA		tetratricopeptide repeat domain 17							133	120	124					11																	43419628		2203	4300	6503	SO:0001819	synonymous_variant	55761						binding	g.chr11:43419628G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1023G>A	11.37:g.43419628G>A						TTC17_ENST00000299240.6_Silent_p.Q341Q|TTC17_ENST00000526774.1_3'UTR	p.Q341Q	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			8	1037	+			341					G3XAB3|Q8NEC0	Silent	SNP	ENST00000039989.4	37	c.1023G>A	CCDS31466.1																																																																																				0.438	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		5	280	0	0	0	1	0	5	280					A	43419628	G	A	43419628	2	1	98	1	0	0	0	0	0	0	0	1	16738	962	34	2		2	TTC17	11	43419628	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	31188500	43419628	91586888	49	34564											
CRY2	1408	broad.mit.edu	37	chr11	45891310	45891310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacctggcccggcatgCcgtggcctgcttcctgaccc	10	20	0	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:45891310C>T	ENST00000443527.2	+	7	1221	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	379	Required for inhibition of CLOCK-ARNTL- mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A379V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCCCGGCATGCCGTGGCCTGC	0.642																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	ENST00000443527.2																			1	Substitution - Missense(1)	p.A379V(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						c.(1198-1200)gCc>gTc		cryptochrome 2 (photolyase-like)							41	45	43					11																	45891310		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891310C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1199C>T	11.37:g.45891310C>T	ENSP00000406751:p.Ala400Val					CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	p.A400V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN			7	1221	+			379			FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1199C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	35	5.453480	0.96223	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	L	0.33668	1.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74023	0.949;0.97;0.982	T	0.59500	-0.7443	9	0.22706	T	0.39	-11.3444	20.4777	0.99188	0.0:1.0:0.0:0.0	.	379;400;318	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	V	318;400	.	ENSP00000397419:A318V	A	+	2	0	CRY2	45847886	1.000000	0.71417	0.956000	0.39512	0.880000	0.50808	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GCC		0.642	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2	NM_021117		4	227	0	0	0	1	0	4	227					T	45891310	C	T	45891310	3	4	98	1	0	0	0	0	1	0	0	0	3913	739	26	2	1261	2	CRY2	11	45891310	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	2471682	45891310	89115206	50	34565											
FOLH1	2346	broad.mit.edu	37	chr11	49186293	49186293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	8	11	3	0	rs370741711		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:49186293C>T	ENST00000256999.2	-	13	1664	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000340334.7_Silent_p.P453P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000533034.1_Silent_p.P453P	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGTACATCAGCGGTGTACAAT	0.284																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1357-1359)ccG>ccA		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						41	42	42					11																	49186293		2197	4295	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186293C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1404G>A	11.37:g.49186293C>T						FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000356696.3_Silent_p.P468P	p.P453P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			14	1727	-			468			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1359G>A	CCDS7946.1																																																																																				0.284	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		6	413	0	0	0	1	0	6	413					T	49186293	C	T	49186293	2	4	98	1	0	0	0	0	0	0	0	1	6004	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	3294983	49186293	85820223	51	34566											
FADS2	9415	broad.mit.edu	37	chr11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-													caagaccaaccacgtgttctTcctcctcctcctggcccaca							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000521849.1_In_Frame_Del_p.L137del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del|FADS2_ENST00000522056.1_In_Frame_Del_p.L106del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	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)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	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.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		7	673						7	673	---	---	---	---	-	61607887	TCC	-	61607885	7	5	98	1	0	1	0	1	0	0	0	0	5387	1783	62	0	408	0	FADS2	11	61607885	In_Frame_Del	DEL	TCC	TCGA-IB-AAUS-01A-12D-A38G-08	12421592	61607885	73398631	52	34567											
SLCO1B3	28234	broad.mit.edu	37	chr12	21069042	21069043	+	Frame_Shift_Ins	INS	-	-	G													tttcaaggaaaagataccaaINSggcatcggacaatgaaagaa							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:21069042_21069043insG	ENST00000381545.3	+	16	2189_2190	c.1970_1971insG	c.(1969-1974)aaggcafs	p.A658fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Ins_p.A658fs|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	658					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)	AAAGATACCAAGGCATCGGACA	0.317																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1969-1971)agcfs		solute carrier organic anion transporter family, member 1B3																																				SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21069042_21069043insG		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.1972dupG	12.37:g.21069044_21069044dupG	ENSP00000370956:p.Ala658fs					LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Ins_p.S657fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron	p.S657fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			16	2189_2190	+	Esophageal squamous(101;0.149)		657					E7EMT8|Q5JAR4	Frame_Shift_Ins	INS	ENST00000381545.3	37	c.1970_1971insG	CCDS8684.1																																																																																				0.317	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		7	404						7	404	---	---	---	---	G	21069043	-	G	21069042	7	5	98	1	0	1	1	0	0	0	0	0	14774	72	3	0	2024	0	SLCO1B3	12	21069042	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08		21069042	112782853	53	34568											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	319	0	0	0	1	0	6	319					T	25398284	C	T	25398284	3	4	98	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	4329242	25398284	108453611	54	34569											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	15	11	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155	155	155					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		9	934	0	0	0	1	0	9	934					T	56629464	C	T	56629464	3	4	98	1	0	0	0	0	1	0	0	0	14671	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	31231180	56629464	77222431	55	34570											
TSPAN8	7103	broad.mit.edu	37	chr12	71519132	71519132	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcatttgttcccgatctgGcaatacaggaccatagaaaa	7	9	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:71519132G>A	ENST00000393330.2	-	12	1248	c.696C>T	c.(694-696)tgC>tgT	p.C232C	TSPAN8_ENST00000546561.1_Silent_p.C232C|TSPAN8_ENST00000552128.1_Silent_p.C149C|TSPAN8_ENST00000247829.3_Silent_p.C232C			P19075	TSN8_HUMAN	tetraspanin 8	232					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)			TCCCGATCTGGCAATACAGGA	0.353																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(694-696)tgC>tgT		tetraspanin 8							128	119	122					12																	71519132		2203	4300	6503	SO:0001819	synonymous_variant	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71519132G>A	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.696C>T	12.37:g.71519132G>A						TSPAN8_ENST00000546561.1_Silent_p.C232C|TSPAN8_ENST00000552128.1_Silent_p.C149C|TSPAN8_ENST00000247829.3_Silent_p.C232C	p.C232C			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		12	1248	-			232					B2R7T7|Q9BS78	Silent	SNP	ENST00000393330.2	37	c.696C>T	CCDS8999.1																																																																																				0.353	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		6	533	0	0	0	1	0	6	533					A	71519132	G	A	71519132	2	1	98	1	0	0	0	0	0	0	0	1	16706	1195	42	2		2	TSPAN8	12	71519132	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	14889668	71519132	62332763	56	34571											
TGM1	7051	broad.mit.edu	37	chr14	24724342	24724342	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagatcctgccccatcaccGcgtcctgtgcctccacctgc	7	20	2	1	rs143322085		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:24724342G>A	ENST00000206765.6	-	12	1886	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	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)	CCCCATCACCGCGTCCTGTGC	0.577																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(1762-1764)gCg>gTg		transglutaminase 1	L-Glutamine(DB00130)	G	VAL/ALA	0,4406		0,0,2203	94	77	83		1763	4.3	0.7	14	dbSNP_134	83	2,8598	2.2+/-6.3	0,2,4298	no	missense	TGM1	NM_000359.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	588/818	24724342	2,13004	2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24724342G>A	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.1763C>T	14.37:g.24724342G>A	ENSP00000206765:p.Ala588Val					TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	p.A588V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	12	1886	-			588					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.1763C>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253753	0.22965	0.0	2.33E-4	ENSG00000092295	ENST00000206765;ENST00000544573	T;T	0.70399	-0.48;-0.48	5.18	4.28	0.50868	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.572364	0.18241	N	0.147251	T	0.60196	0.2250	L	0.43152	1.355	0.37256	D	0.906752	B	0.11235	0.004	B	0.10450	0.005	T	0.59059	-0.7525	10	0.32370	T	0.25	-16.2109	8.7813	0.34794	0.0819:0.1506:0.7675:0.0	.	588	P22735	TGM1_HUMAN	V	588;146	ENSP00000206765:A588V;ENSP00000439446:A146V	ENSP00000206765:A588V	A	-	2	0	TGM1	23794182	0.226000	0.23696	0.657000	0.29651	0.111000	0.19643	2.213000	0.42844	1.402000	0.46780	0.655000	0.94253	GCG		0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		7	305	0	0	0	1	0	7	305					A	24724342	G	A	24724342	3	1	98	1	0	0	0	0	1	0	0	0	15881	1087	38	1	706	1	TGM1	14	24724342	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		24724342	82625198	57	34572											
ARHGAP5	394	broad.mit.edu	37	chr14	32559928	32559928	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcctataccatcagtatagTtggactctctgggactgaaa	8	9	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:32559928T>A	ENST00000345122.3	+	2	368	c.53T>A	c.(52-54)gTt>gAt	p.V18D	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	18					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)		ATCAGTATAGTTGGACTCTCT	0.393																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3																			0				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						c.(52-54)gTt>gAt		Rho GTPase activating protein 5							95	93	93					14																	32559928		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32559928T>A	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.53T>A	14.37:g.32559928T>A	ENSP00000371897:p.Val18Asp					ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D	p.V18D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	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)	2	368	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		18					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.53T>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770967	0.90108	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T;T	0.66280	-0.2;1.98;1.98;1.98;1.98;0.25	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.83334	-0.0011	10	0.87932	D	0	.	15.4475	0.75243	0.0:0.0:0.0:1.0	.	18;18	Q13017-2;Q13017	.;RHG05_HUMAN	D	18	ENSP00000452372:V18D;ENSP00000452222:V18D;ENSP00000441692:V18D;ENSP00000371897:V18D;ENSP00000393307:V18D;ENSP00000451579:V18D	ENSP00000371897:V18D	V	+	2	0	ARHGAP5	31629679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.098000	0.63641	0.528000	0.53228	GTT		0.393	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		9	452	0	0	0	1	0	9	452					A	32559928	T	A	32559928	3	1	98	1	0	0	0	0	1	0	0	0	886	1725	60	5	55	5	ARHGAP5	14	32559928	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	7835586	32559928	74789612	58	34573											
GPHB5	122876	broad.mit.edu	37	chr14	63784429	63784429	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcagcctggcttcttGgccaggaaagtaaactccct	9	15	1	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:63784429G>A	ENST00000539258.1	-	0	191							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CTGGCTTCTTGGCCAGGAAAG	0.607																																						ENST00000539258.1																			0				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7								glycoprotein hormone beta 5							41	45	44					14																	63784429		2006	4170	6176			122876					extracellular region	hormone activity	g.chr14:63784429G>A	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784429G>A										Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	0	191	-								Q6NTD0|Q8NFW2	RNA	SNP	ENST00000539258.1	37																																																																																						0.607	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		5	212	0	0	0	1	0	5	212					A	63784429	G	A	63784429	1	1	98	0	1	0	0	0	0	0	0	0	6638	1335	47	2		2	GPHB5	14	63784429	RNA	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	31224501	63784429	43565111	59	34574											
DICER1	23405	broad.mit.edu	37	chr14	95562455	95562455	+	Frame_Shift_Del	DEL	T	T	-													cccgagtagggcacagggccTtttcccgatcagtcctttta					rs181018393		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:95562455delT	ENST00000526495.1	-	25	5093	c.4802delA	c.(4801-4803)aagfs	p.K1601fs	DICER1_ENST00000343455.3_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000556045.1_Frame_Shift_Del_p.K499fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.K1601fs			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1601					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)		GCACAGGGCCTTTTCCCGATC	0.522			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000526495.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"Mis F, N"	"dicer 1, ribonuclease type III "			"E, M, O"		pleuropulmonary blastoma	"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"		0				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						c.(4801-4803)agfs		dicer 1, ribonuclease type III							196	203	200					14																	95562455		2203	4300	6503	SO:0001589	frameshift_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562455delT	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.4802delA	14.37:g.95562455delT	ENSP00000437256:p.Lys1601fs					DICER1_ENST00000343455.3_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000556045.1_Frame_Shift_Del_p.K499fs	p.K1601fs			Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5093	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1601					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Frame_Shift_Del	DEL	ENST00000526495.1	37	c.4802delA	CCDS9931.1																																																																																				0.522	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			8	1401						8	1401	---	---	---	---	-	95562455	T	-	95562455	7	5	98	1	0	1	0	1	0	0	0	0	4537	1609	56	0	986	0	DICER1	14	95562455	Frame_Shift_Del	DEL	T	TCGA-IB-AAUS-01A-12D-A38G-08	31778026	95562455	11787085	60	34575											
ARHGAP17	55114	broad.mit.edu	37	chr16	24971282	24971282	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttggccataaagttgtacaTgtctgctgcaagttgatcct	9	8	1	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:24971282T>G	ENST00000289968.6	-	8	661	c.592A>C	c.(592-594)Atg>Ctg	p.M198L	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	198	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGTTGTACATGTCTGCTGCA	0.383																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(592-594)Atg>Ctg		Rho GTPase activating protein 17							117	116	116					16																	24971282		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24971282T>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.592A>C	16.37:g.24971282T>G	ENSP00000289968:p.Met198Leu					ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L	p.M198L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	8	661	-			198			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.592A>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	T	7.735	0.700058	0.15106	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.50277	0.75;0.75;0.75	5.67	5.67	0.87782	BAR (3);	0.000000	0.52532	D	0.000072	T	0.41673	0.1169	L	0.42581	1.335	0.43632	D	0.996021	B;B;B;B	0.22080	0.015;0.064;0.008;0.064	B;B;B;B	0.24701	0.011;0.055;0.015;0.055	T	0.23084	-1.0198	10	0.25751	T	0.34	.	13.8404	0.63435	0.0:0.0:0.0:1.0	.	198;198;198;198	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	L	198	ENSP00000289968:M198L;ENSP00000303130:M198L;ENSP00000406950:M198L	ENSP00000289968:M198L	M	-	1	0	ARHGAP17	24878783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.068000	0.50018	2.153000	0.67306	0.477000	0.44152	ATG		0.383	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		8	522	0	0	0	1	0	8	522					G	24971282	T	G	24971282	3	3	98	1	0	0	0	0	1	0	0	0	867	1464	51	4	2105	4	ARHGAP17	16	24971282	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08		24971282	65383471	61	34576											
SLC38A8	146167	broad.mit.edu	37	chr16	84050178	84050178	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tccgatgatgctgacgatctCgctgaggtcaggcataaaca	11	10	2	3	rs149742482	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:84050178C>T	ENST00000299709.3	-	8	1107	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	370					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						CTGACGATCTCGCTGAGGTCA	0.607																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1108-1110)Gag>Aag		solute carrier family 38, member 8		C	LYS/GLU	0,4400		0,0,2200	91	76	81		1108	-1.1	0.5	16	dbSNP_134	81	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC38A8	NM_001080442.1	56	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	benign	370/436	84050178	2,12998	2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050178C>T		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.1108G>A	16.37:g.84050178C>T	ENSP00000299709:p.Glu370Lys						p.E370K	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			8	1107	-			370						Missense_Mutation	SNP	ENST00000299709.3	37	c.1108G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.414452	0.01145	0.0	2.33E-4	ENSG00000166558	ENST00000299709	T	0.02067	4.47	4.47	-1.14	0.09741	.	0.554792	0.19437	N	0.114283	T	0.01092	0.0036	N	0.14661	0.345	0.36854	D	0.88807	B	0.23540	0.087	B	0.21360	0.034	T	0.49934	-0.8886	10	0.05833	T	0.94	.	5.3489	0.16024	0.0:0.4325:0.1427:0.4248	.	370	A6NNN8	S38A8_HUMAN	K	370	ENSP00000299709:E370K	ENSP00000299709:E370K	E	-	1	0	SLC38A8	82607679	0.135000	0.22499	0.486000	0.27416	0.168000	0.22595	0.078000	0.14761	-0.231000	0.09825	0.478000	0.44815	GAG		0.607	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		10	200	0	0	0	1	0	10	200					T	84050178	C	T	84050178	3	4	98	1	0	0	0	0	1	0	0	0	14660	893	31	1	211	1	SLC38A8	16	84050178	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	59078896	84050178	6304575	62	34577											
TP53	7157	broad.mit.edu	37	chr17	7579533	7579533	+	Frame_Shift_Del	DEL	G	G	-													tgggtcttcagtgaaccattGttcaatatcgtccggggaca							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:7579533delG	ENST00000269305.4	-	4	343	c.154delC	c.(154-156)caafs	p.Q52fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.Q52fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (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.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(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)	GTGAACCATTGTTCAATATCG	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		29	Substitution - Nonsense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1)	p.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(6)|prostate(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|stomach(2)|central_nervous_system(2)|large_intestine(1)|kidney(1)|endometrium(1)|breast(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(154-156)aafs	Other conserved DNA damage response genes	tumor protein p53							168	167	167					17																	7579533		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579533delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.154delC	17.37:g.7579533delG	ENSP00000269305:p.Gln52fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q52fs	p.Q52fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	286	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	52		Q -> H (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.154delC	CCDS11118.1																																																																																				0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	1182						18	1182	---	---	---	---	-	7579533	G	-	7579533	7	5	98	1	0	1	0	1	0	0	0	0	16434	1386	48	0	1148	0	TP53	17	7579533	Frame_Shift_Del	DEL	G	TCGA-IB-AAUS-01A-12D-A38G-08		7579533	73615677	63	34578											
NDEL1	81565	broad.mit.edu	37	chr17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-													agtaaacggctttgaccccgCtcctcctcctcctggtctgg					rs557733194	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gctcct>gct	p.P327del	NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR|NDEL1_ENST00000585098.1_Intron	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	327	Interaction with CENPF.|Interaction with NEFL. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576																																						ENST00000334527.7																			0				large_intestine(6)|lung(4)|skin(3)	13						c.(967-972)gct>g		nudE neurodevelopment protein 1-like 1																																				SO:0001651	inframe_deletion	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8370271_8370273delCTC	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.968_970delCTC	17.37:g.8370280_8370282delCTC	ENSP00000333982:p.Pro327del					NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR	p.AP323del	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN			9	1165_1167	+			323			Interaction with CENPF.|Interaction with NEFL (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	In_Frame_Del	DEL	ENST00000334527.7	37	c.968_970delCTC	CCDS11143.1																																																																																				0.576	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		8	397						8	397	---	---	---	---	-	8370273	CTC	-	8370271	7	5	98	1	0	1	0	1	0	0	0	0	10286	797	28	0	1037	0	NDEL1	17	8370271	In_Frame_Del	DEL	CTC	TCGA-IB-AAUS-01A-12D-A38G-08	790738	8370271	72824939	64	34579											
MAP2K4	6416	broad.mit.edu	37	chr17	12043158	12043158	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atttttatgttattttagccTtacgaaggatgaatccaaaa	6	5	0	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:12043158T>G	ENST00000353533.5	+	10	1106	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	MAP2K4_ENST00000415385.3_Missense_Mutation_p.L359R	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	348	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.?(2)|p.L348R(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)		TATTTTAGCCTTACGAAGGAT	0.333			"D, Mis, N"		"pancreatic, breast, colorectal"																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"D, Mis, N"	mitogen-activated protein kinase kinase 4			E			"pancreatic, breast, colorectal"		13	Whole gene deletion(10)|Unknown(2)|Substitution - Missense(1)	p.0?(10)|p.?(2)|p.L348R(1)	ovary(4)|breast(4)|biliary_tract(2)|pancreas(2)|lung(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						c.(1075-1077)cTt>cGt		mitogen-activated protein kinase kinase 4							112	118	116					17																	12043158		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12043158T>G	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.1043T>G	17.37:g.12043158T>G	ENSP00000262445:p.Leu348Arg					MAP2K4_ENST00000353533.5_Missense_Mutation_p.L348R	p.L359R			P45985	MP2K4_HUMAN		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)	11	1129	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	348			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.1076T>G	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507873	0.85282	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.34472	1.36;1.36	5.65	5.65	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	T	0.71281	0.3321	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.80596	-0.1312	10	0.87932	D	0	.	14.9931	0.71406	0.0:0.0:0.0:1.0	.	220;359;348	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	R	348;359;325;220	ENSP00000262445:L348R;ENSP00000410402:L359R	ENSP00000262445:L348R	L	+	2	0	MAP2K4	11983883	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	CTT		0.333	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			18	579	0	0	0	1	0	18	579					G	12043158	T	G	12043158	3	3	98	1	0	0	0	0	1	0	0	0	9280	1609	56	4	1081	4	MAP2K4	17	12043158	Missense_Mutation	SNP	T	TCGA-IB-AAUS-01A-12D-A38G-08	3672887	12043158	69152052	65	34580											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240781	39240781	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctgtgtgctgccagcccaCctgctgccgccccagctgct	11	18	1	0	rs372960430|rs553572799	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:39240781C>A	ENST00000391417.4	+	1	323	c.323C>A	c.(322-324)aCc>aAc	p.T108N		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	133	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						tgccagcccacctgctgccgc	0.662																																						ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(322-324)aCc>aAc		keratin associated protein 4-7							13	15	14					17																	39240781		1874	3648	5522	SO:0001583	missense	100132476							g.chr17:39240781C>A	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.323C>A	17.37:g.39240781C>A	ENSP00000375236:p.Thr108Asn						p.T108N	NM_033061.3	NP_149050.3					1	323	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.323C>A	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	7.648	0.682264	0.14907	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.00609	6.24	3.41	1.04	0.20106	.	1.411810	0.05113	U	0.489187	T	0.00580	0.0019	.	.	.	0.21697	N	0.999583	B	0.20550	0.046	B	0.20384	0.029	T	0.45234	-0.9275	9	0.42905	T	0.14	.	7.6942	0.28585	0.1798:0.6442:0.176:0.0	.	108	Q9BYR0	KRA47_HUMAN	N	108;99	ENSP00000375236:T108N	ENSP00000375236:T108N	T	+	2	0	KRTAP4-9;KRTAP4-7	36494307	0.000000	0.05858	0.287000	0.24848	0.438000	0.31896	-2.909000	0.00699	0.494000	0.27859	0.455000	0.32223	ACC		0.662	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	63	1	0	0.00024832	1	0.000257268	4	63					A	39240781	C	A	39240781	3	1	98	1	0	0	0	0	1	0	0	0	8586	507	18	3	325	3	KRTAP4-7	17	39240781	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	27197623	39240781	41954429	66	34581											
GPATCH8	23131	broad.mit.edu	37	chr17	42477395	42477396	+	Frame_Shift_Ins	INS	-	-	T													ttacgtttgtgtttgctggaINSttttttgtgcttctttttct							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:42477395_42477396insT	ENST00000591680.1	-	8	2079_2080	c.2049_2050insA	c.(2047-2052)aaatccfs	p.S684fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.S606fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	684	Lys-rich.						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)		TGTTTGCTGGATTTTTTGTGCT	0.46																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(1813-1818)aaccagfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42477395_42477396insT	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.2050dupA	17.37:g.42477401_42477401dupT	ENSP00000467556:p.Ser684fs					GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.NQ683fs	p.NQ605fs			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2097_2098	-		Prostate(33;0.0181)	683					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.1815_1816insA	CCDS32666.1																																																																																				0.46	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	1213						7	1213	---	---	---	---	T	42477396	-	T	42477395	7	5	98	1	0	1	1	0	0	0	0	0	6623	333	12	0	2462	0	GPATCH8	17	42477395	Frame_Shift_Ins	INS	-	TCGA-IB-AAUS-01A-12D-A38G-08	3236614	42477395	38717815	67	34582											
KIAA1632	57724	broad.mit.edu	37	chr18	43496007	43496007	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagagtaatttctgtatgcaGtcttcctgcatcagctgaaa	8	8	3	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr18:43496007G>A	ENST00000282041.5	-	19	3583	c.3549C>T	c.(3547-3549)gaC>gaT	p.D1183D	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1183					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						TCTGTATGCAGTCTTCCTGCA	0.393																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3547-3549)gaC>gaT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							57	54	55					18																	43496007		1905	4118	6023	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43496007G>A	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.3549C>T	18.37:g.43496007G>A						EPG5_ENST00000585906.1_5'UTR	p.D1183D	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			19	3583	-			1183					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.3549C>T	CCDS11926.2																																																																																				0.393	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		5	175	0	0	0	1	0	5	175					A	43496007	G	A	43496007	2	1	98	1	0	0	0	0	0	0	0	1	8279	1020	36	2		2	KIAA1632	18	43496007	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		43496007	34581241	68	34583											
PTPRS	5802	broad.mit.edu	37	chr19	5210482	5210482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtctcttcactcacccGggcatctgtgaccttgaact	8	14	5	2	rs147647579		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:5210482G>A	ENST00000587303.1	-	34	5584	c.5485C>T	c.(5485-5487)Cgg>Tgg	p.R1829W	PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1830W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	TCACTCACCCGGGCATCTGTG	0.562																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5488-5490)Cgg>Tgg		protein tyrosine phosphatase, receptor type, S		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	112	104	107		5485,4144,5371,4156	-0.2	1	19	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1829/1949,1382/1502,1791/1911,1386/1506	5210482	1,13005	2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5210482G>A	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.5485C>T	19.37:g.5210482G>A	ENSP00000467537:p.Arg1829Trp					PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1829W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W	p.R1830W			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	35	5721	-			1829			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5488C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	15.03	2.713599	0.48517	0.0	1.16E-4	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	2.31	-0.225	0.13111	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.084158	0.45361	U	0.000376	T	0.37679	0.1012	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.995;1.0;1.0;0.999;0.999	P;P;D;P;D;D	0.91635	0.889;0.634;0.999;0.865;0.912;0.958	T	0.25745	-1.0123	10	0.87932	D	0	.	9.6749	0.40034	0.0:0.0:0.2921:0.7079	.	1411;1382;1386;1791;1829;1424	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	W	1424;1830;1829;1829;1820;1809;1791;1411;1386;1382	ENSP00000361489:R1830W;ENSP00000349932:R1829W;ENSP00000262963:R1809W;ENSP00000269907:R1791W;ENSP00000327313:R1382W	ENSP00000262963:R1809W	R	-	1	2	PTPRS	5161482	1.000000	0.71417	0.995000	0.50966	0.718000	0.41266	1.922000	0.40045	-0.096000	0.12329	0.486000	0.48141	CGG		0.562	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			11	462	0	0	0	1	0	11	462					A	5210482	G	A	5210482	3	1	98	1	0	0	0	0	1	0	0	0	12861	1115	39	1	377	1	PTPRS	19	5210482	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		5210482	53918501	69	34584											
VAV1	7409	broad.mit.edu	37	chr19	6857088	6857088	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctggttccctgccaactaCgtggaggaagattattctga	12	9	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:6857088C>T	ENST00000602142.1	+	27	2590	c.2508C>T	c.(2506-2508)taC>taT	p.Y836Y	VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000304076.2_Silent_p.Y814Y|VAV1_ENST00000596764.1_Silent_p.Y804Y|VAV1_ENST00000539284.1_Silent_p.Y739Y	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	836	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						CTGCCAACTACGTGGAGGAAG	0.592																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2440-2442)taC>taT		vav 1 guanine nucleotide exchange factor							197	141	160					19																	6857088		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6857088C>T		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.2508C>T	19.37:g.6857088C>T						VAV1_ENST00000602142.1_Silent_p.Y836Y|VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000596764.1_Silent_p.Y804Y|VAV1_ENST00000539284.1_Silent_p.Y739Y	p.Y814Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			26	2536	+			836			SH3 2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2442C>T	CCDS12174.1																																																																																				0.592	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			5	190	0	0	0	1	0	5	190					T	6857088	C	T	6857088	2	4	98	1	0	0	0	0	0	0	0	1	17185	547	19	1		1	VAV1	19	6857088	Silent	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	1646606	6857088	52271895	70	34585											
C19orf45	374877	broad.mit.edu	37	chr19	7570440	7570440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgatcagactccggagtcGcacatcctgaaaggaaattg	10	11	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:7570440G>A	ENST00000361664.2	+	6	1074	c.933G>A	c.(931-933)tcG>tcA	p.S311S	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	311										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CTCCGGAGTCGCACATCCTGA	0.622																																						ENST00000361664.2																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						c.(931-933)tcG>tcA		chromosome 19 open reading frame 45							48	53	51					19																	7570440		2203	4300	6503	SO:0001819	synonymous_variant	374877							g.chr19:7570440G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.933G>A	19.37:g.7570440G>A							p.S311S	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN			6	1074	+			311					Q8N115	Silent	SNP	ENST00000361664.2	37	c.933G>A	CCDS12179.2																																																																																				0.622	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		6	306	0	0	0	1	0	6	306					A	7570440	G	A	7570440	2	1	98	1	0	0	0	0	0	0	0	1	1935	1074	38	1		1	C19orf45	19	7570440	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	713352	7570440	51558543	71	34586											
CACNA1A	773	broad.mit.edu	37	chr19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtccaggtaaggcatgCggcccctggcagcaccgaaa	12	13	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron|CACNA1A_ENST00000574822.1_5'Flank	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	1846					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)	GTAAGGCATGCGGCCCCTGGC	0.493																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5533-5535)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						48	49	49					19																	13338336		1877	4112	5989	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13338336C>T	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.5534G>A	19.37:g.13338336C>T	ENSP00000353362:p.Arg1845His					CACNA1A_ENST00000573710.2_Intron	p.R1845H	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		37	5533	-			1846					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5534G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		4	220	0	0	0	1	0	4	220					T	13338336	C	T	13338336	3	4	98	1	0	0	0	0	1	0	0	0	2545	768	27	1	2030	1	CACNA1A	19	13338336	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08	5767896	13338336	45790647	72	34587											
NOTCH3	4854	broad.mit.edu	37	chr19	15297738	15297738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagcggttgatgccatcacgGcagactccaaaggtgcaggg	14	10	1	2			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:15297738G>A	ENST00000263388.2	-	12	1977	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	634	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCCATCACGGCAGACTCCAA	0.577																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(1900-1902)tgC>tgT		notch 3							110	83	92					19																	15297738		2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15297738G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1902C>T	19.37:g.15297738G>A							p.C634C	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		12	1977	-			634			EGF-like 16; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.1902C>T	CCDS12326.1																																																																																				0.577	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		4	226	0	0	0	1	0	4	226					A	15297738	G	A	15297738	2	1	98	1	0	0	0	0	0	0	0	1	10592	1195	42	2		2	NOTCH3	19	15297738	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	1959402	15297738	43831245	73	34588											
MAVS	57506	broad.mit.edu	37	chr20	3844906	3844906	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtttttccaccggcaggtgCgacctccagcctcacaccat	8	16	1	0	rs372329473		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:3844906C>T	ENST00000428216.2	+	6	757	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MAVS_ENST00000416600.2_Missense_Mutation_p.A69V|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	210					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCAGGTGCGACCTCCAGC	0.617																																						ENST00000428216.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(628-630)gCg>gTg		mitochondrial antiviral signaling protein		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	88	91	90		629,206	-2.5	0	20		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MAVS	NM_020746.4,NM_001206491.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	210/541,69/400	3844906	1,13005	2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3844906C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.629C>T	20.37:g.3844906C>T	ENSP00000401980:p.Ala210Val					MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A69V	p.A210V	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN			6	757	+			210					A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.629C>T	CCDS33437.1	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113443	0.08831	0.0	1.16E-4	ENSG00000088888	ENST00000416600;ENST00000428216	T;T	0.28666	1.6;2.65	3.84	-2.51	0.06365	.	3.330980	0.00987	N	0.003467	T	0.11024	0.0269	N	0.05078	-0.115	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15809	-1.0424	10	0.05351	T	0.99	4.4599	0.9205	0.01314	0.1672:0.3485:0.1665:0.3178	.	210	Q7Z434	MAVS_HUMAN	V	69;210	ENSP00000413749:A69V;ENSP00000401980:A210V	ENSP00000413749:A69V	A	+	2	0	MAVS	3792906	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.043000	0.03535	-0.435000	0.07264	0.650000	0.86243	GCG		0.617	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		6	483	0	0	0	1	0	6	483					T	3844906	C	T	3844906	3	4	98	1	0	0	0	0	1	0	0	0	9379	768	27	1	647	1	MAVS	20	3844906	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		3844906	59180614	74	34589											
PLCB4	5332	broad.mit.edu	37	chr20	9317832	9317832	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgagtttggcttctttctGacatggagaagtgaaggcaa	13	5	2	4			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:9317832G>A	ENST00000378493.1	+	2	159	c.144G>A	c.(142-144)ctG>ctA	p.L48L	PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000414679.2_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Silent_p.L48L|PLCB4_ENST00000278655.4_Silent_p.L48L|PLCB4_ENST00000334005.3_Silent_p.L48L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	48					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						GCTTCTTTCTGACATGGAGAA	0.418																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(142-144)ctG>ctA		phospholipase C, beta 4							130	116	121					20																	9317832		2203	4300	6503	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9317832G>A		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.144G>A	20.37:g.9317832G>A						PLCB4_ENST00000378493.1_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000278655.4_Silent_p.L48L|PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000414679.2_Silent_p.L48L	p.L48L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			2	159	+			48					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.144G>A	CCDS13105.1																																																																																				0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			8	432	0	0	0	1	0	8	432					A	9317832	G	A	9317832	2	1	98	1	0	0	0	0	0	0	0	1	12072	1277	45	2		2	PLCB4	20	9317832	Silent	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	5472926	9317832	53707688	75	34590											
OSBP2	23762	broad.mit.edu	37	chr22	31285529	31285529	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcatccaaagtcaagaggcGagtccgcattcccaacaagc	8	13	2	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:31285529G>A	ENST00000332585.6	+	7	1633	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	510					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTCAAGAGGCGAGTCCGCATT	0.597																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1528-1530)cGa>cAa		oxysterol binding protein 2							128	142	137					22																	31285529		2117	4243	6360	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31285529G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1529G>A	22.37:g.31285529G>A	ENSP00000332576:p.Arg510Gln					OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q	p.R510Q	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			7	1633	+			510					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1529G>A	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.421409|4.421409	0.83559|0.83559	.|.	.|.	ENSG00000184792|ENSG00000184792	ENST00000454145;ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T	.|0.57273	.|0.46;0.46;0.98;1.0;0.52;0.44;0.41	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.061482	.|0.64402	.|D	.|0.000003	T|T	0.62938|0.62938	0.2469|0.2469	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0;0.995;0.995	.|D;D;D;D;P;P	.|0.73708	.|0.979;0.981;0.954;0.981;0.691;0.691	T|T	0.66500|0.66500	-0.5908|-0.5908	5|10	.|0.72032	.|D	.|0.01	-20.1482|-20.1482	18.165|18.165	0.89722|0.89722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|252;344;252;337;509;510	.|F5H2A3;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	K|Q	172;181;182|344;337;510;509;143;144;252;54;141	.|ENSP00000384213:R344Q;ENSP00000385237:R337Q;ENSP00000332576:R510Q;ENSP00000392080:R509Q;ENSP00000385254:R143Q;ENSP00000389200:R252Q;ENSP00000438713:R54Q	.|ENSP00000332576:R510Q	E|R	+|+	1|2	0|0	OSBP2|OSBP2	29615529|29615529	1.000000|1.000000	0.71417|0.71417	0.472000|0.472000	0.27241|0.27241	0.008000|0.008000	0.06430|0.06430	9.601000|9.601000	0.98297|0.98297	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.597	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		7	630	0	0	0	1	0	7	630					A	31285529	G	A	31285529	3	1	98	1	0	0	0	0	1	0	0	0	11316	1058	37	1	1555	1	OSBP2	22	31285529	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08		31285529	20019037	76	34591											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	12	14	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83	76	79					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C	p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		5	306	0	0	0	1	0	5	306					A	42071074	G	A	42071074	3	1	98	1	0	0	0	0	1	0	0	0	10452	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-IB-AAUS-01A-12D-A38G-08	10785545	42071074	9233492	77	34592											
CRLF2	64109	broad.mit.edu	37	chrX	1325350	1325350	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaccatccagcgacttgCggtgaaaacggggtgcgtcc	12	11	0	1			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:1325350C>T	ENST00000381567.3	-	3	324	c.325G>A	c.(325-327)Gca>Aca	p.A109T	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.A109T	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	109					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGCGACTTGCGGTGAAAACG	0.493			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"																																	ENST00000381567.3				Dom	yes		"X,Y"	Xp22.3; Yp11.3	64109	"Mis, T"	cytokine receptor-like factor 2			L	"P2RY8, IGH@"		"B-ALL, Downs associated ALL"		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20						c.(325-327)Gca>Aca		cytokine receptor-like factor 2							217	209	212					X																	1325350		1958	4128	6086	SO:0001583	missense	64109					extracellular region|integral to membrane|plasma membrane	receptor activity	g.chrX:1325350C>T	AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"Pseudoautosomal regions / PAR1"	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.325G>A	X.37:g.1325350C>T	ENSP00000370979:p.Ala109Thr					CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.A109T	p.A109T	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN			3	324	-		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)	109					Q9H5R3	Missense_Mutation	SNP	ENST00000381567.3	37	c.325G>A		.	.	.	.	.	.	.	.	.	.	.	4.127	0.021722	0.08006	.	.	ENSG00000205755	ENST00000381567;ENST00000400841;ENST00000381566	D;D;D	0.98400	-4.91;-4.91;-3.86	0.914	-0.981	0.10269	Fibronectin, type III (1);	1.183800	0.06595	U	0.752833	D	0.93815	0.8022	.	.	.	0.09310	N	1	P	0.46706	0.883	B	0.34418	0.182	D	0.89163	0.3531	9	0.45353	T	0.12	.	3.2605	0.06846	0.0:0.4718:0.0:0.5282	.	109	Q9HC73	CRLF2_HUMAN	T	109	ENSP00000370979:A109T;ENSP00000383641:A109T;ENSP00000370978:A109T	ENSP00000370978:A109T	A	-	1	0	CRLF2	1285350	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.346000	0.07760	-0.329000	0.08527	0.395000	0.25975	GCA		0.493	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_022148		6	471	0	0	0	1	0	6	471					T	1325350	C	T	1325350	3	4	98	1	0	0	0	0	1	0	0	0	3896	768	27	1	464	1	CRLF2	23	1325350	Missense_Mutation	SNP	C	TCGA-IB-AAUS-01A-12D-A38G-08		1325350	153945210	78	34593											
BCOR	54880	broad.mit.edu	37	chrX	39934135	39934135	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggctacagcacttttttgtAttccaggcggtgttttgtat	10	7	0	0			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:39934135A>G	ENST00000378444.4	-	4	692	c.464T>C	c.(463-465)aTa>aCa	p.I155T	BCOR_ENST00000378455.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T|BCOR_ENST00000342274.4_Missense_Mutation_p.I155T	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	155					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						ACTTTTTTGTATTCCAGGCGG	0.517			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(463-465)aTa>aCa		BCL6 corepressor							58	58	58					X																	39934135		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934135A>G	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.464T>C	X.37:g.39934135A>G	ENSP00000367705:p.Ile155Thr					BCOR_ENST00000378455.4_Missense_Mutation_p.I155T|BCOR_ENST00000378444.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T	p.I155T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	826	-			155					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.464T>C	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.242244	0.58995	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.47	5.47	0.80525	.	.	.	.	.	T	0.75671	0.3881	L	0.27053	0.805	0.45930	D	0.998761	D;D;D;D	0.71674	0.998;0.998;0.997;0.998	D;D;D;D	0.81914	0.995;0.995;0.989;0.995	T	0.79222	-0.1892	9	0.87932	D	0	-16.4292	14.5759	0.68246	1.0:0.0:0.0:0.0	.	155;155;155;155	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	T	155	ENSP00000367716:I155T;ENSP00000380512:I155T;ENSP00000367705:I155T;ENSP00000345923:I155T;ENSP00000384485:I155T	ENSP00000345923:I155T	I	-	2	0	BCOR	39819079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.931000	0.70113	1.822000	0.53115	0.486000	0.48141	ATA		0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		9	493	0	0	0	1	0	9	493					G	39934135	A	G	39934135	3	3	98	1	0	0	0	0	1	0	0	0	1387	449	16	4	4851	4	BCOR	23	39934135	Missense_Mutation	SNP	A	TCGA-IB-AAUS-01A-12D-A38G-08	38608785	39934135	115336425	79	34594											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					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						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	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.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		14	446						14	446	---	---	---	---	-	54011407	CTC	-	54011405	7	5	98	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-IB-AAUS-01A-12D-A38G-08	14077270	54011405	101259155	80	34595											
ATP2B3	492	broad.mit.edu	37	chrX	152845611	152845611	+	Frame_Shift_Del	DEL	C	C	-													gaacgaggagcgcctccgggCccccccgcccccgtccccca					rs149428057	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:152845611delC	ENST00000349466.2	+	21	3844	c.3518delC	c.(3517-3519)gccfs	p.A1173fs	ATP2B3_ENST00000263519.4_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000370181.2_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1173					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)					CGCCTCCGGGCCCCCCCGCCC	0.587																																						ENST00000263519.4																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(3517-3519)gcfs		ATPase, Ca++ transporting, plasma membrane 3							83	84	84					X																	152845611		2203	4300	6503	SO:0001589	frameshift_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152845611delC	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.3518delC	X.37:g.152845611delC	ENSP00000343886:p.Ala1173fs					ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs	p.A1173fs	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN			20	3644	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1173					B7WNR8|B7WNY5|Q12995|Q16858	Frame_Shift_Del	DEL	ENST00000349466.2	37	c.3518delC	CCDS35440.1																																																																																				0.587	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		12	790						12	790	---	---	---	---	-	152845611	C	-	152845611	7	5	98	1	0	1	0	1	0	0	0	0	1142	739	26	0	3754	0	ATP2B3	23	152845611	Frame_Shift_Del	DEL	C	TCGA-IB-AAUS-01A-12D-A38G-08	98834206	152845611	2424949	81	34596											
CROCC	9696	broad.mit.edu	37	chr1	17266463	17266463	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttagcgacagcgagagCgagcggcgggccctagagga	17	11	0	2	rs374771140		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1681-1683)agC>agT		ciliary rootlet coiled-coil, rootletin		C		1,4399		0,1,2199	41	40	40		1683	-9.8	0.1	1		40	1,8583		0,1,4291	no	coding-synonymous	CROCC	NM_014675.3		0,2,6490	TT,TC,CC		0.0116,0.0227,0.0154		561/2018	17266463	2,12982	2200	4292	6492	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266463C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1683C>T	1.37:g.17266463C>T						CROCC_ENST00000467938.1_3'UTR	p.S561S	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1752	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	561						Silent	SNP	ENST00000375541.5	37	c.1683C>T	CCDS30616.1																																																																																				0.692	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		7	449	0	0	0	1	0	7	449					T	17266463	C	T	17266463	2	4	99	1	0	0	0	0	0	0	0	1	3902	767	27	1		1	CROCC	1	17266463	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		17266463	231984158	1	34597											
CELA3A	10136	broad.mit.edu	37	chr1	22333991	22333991	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgtgctggagggtacAtccgctccggctgcaacgtg	16	10	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:22333991A>G	ENST00000290122.3	+	6	644	c.625A>G	c.(625-627)Atc>Gtc	p.I209V		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	209	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						TGGAGGGTACATCCGCTCCGG	0.617																																						ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(625-627)Atc>Gtc		chymotrypsin-like elastase family, member 3A							106	100	102					1																	22333991		2200	4300	6500	SO:0001583	missense	10136							g.chr1:22333991A>G	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.625A>G	1.37:g.22333991A>G	ENSP00000290122:p.Ile209Val						p.I209V	NM_005747.4	NP_005738.4					6	644	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.625A>G	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	3.960	-0.010431	0.07727	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	D;D	0.88277	-2.36;-2.36	3.7	-4.31	0.03698	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.67154	0.2863	N	0.02345	-0.59	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.53809	-0.8386	9	0.49607	T	0.09	0.0019	1.5167	0.02507	0.4129:0.283:0.1811:0.123	.	209	P09093	CEL3A_HUMAN	V	209;17	ENSP00000290122:I209V;ENSP00000383130:I17V	ENSP00000290122:I209V	I	+	1	0	CELA3A	22206578	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.306000	0.08178	-1.717000	0.01385	-3.887000	0.00017	ATC		0.617	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		6	247	0	0	0	1	0	6	247					G	22333991	A	G	22333991	3	3	99	1	0	0	0	0	1	0	0	0	3222	217	8	4	647	4	CELA3A	1	22333991	Missense_Mutation	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	5067528	22333991	226916630	2	34598											
RUNX3	864	broad.mit.edu	37	chr1	25254076	25254076	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccacttacctcgcccactgCggcccacgaagcgaaggtcg	10	17	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:25254076C>T	ENST00000308873.6	-	2	436	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RUNX3_ENST00000540420.1_Missense_Mutation_p.R50H|RUNX3_ENST00000399916.1_Missense_Mutation_p.R157H|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000338888.3_Missense_Mutation_p.R157H	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	143	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TCGCCCACTGCGGCCCACGAA	0.597																																						ENST00000399916.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(469-471)cGc>cAc		runt-related transcription factor 3							88	76	80					1																	25254076		2203	4300	6503	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25254076C>T	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.428G>A	1.37:g.25254076C>T	ENSP00000308051:p.Arg143His					RUNX3_ENST00000338888.3_Missense_Mutation_p.R157H|RUNX3_ENST00000540420.1_Missense_Mutation_p.R50H|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R143H	p.R157H	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	3	908	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	143			Runt.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.470G>A	CCDS257.1	.	.	.	.	.	.	.	.	.	.	C	36	5.873516	0.97049	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5	5.65	5.65	0.86999	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.78314	0.991;0.991;0.991	D	0.97489	1.0052	10	0.87932	D	0	-32.702	19.3352	0.94314	0.0:1.0:0.0:0.0	.	143;157;143	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	H	157;143;157;50;143	ENSP00000382800:R157H;ENSP00000308051:R143H;ENSP00000343477:R157H;ENSP00000444872:R50H	ENSP00000308051:R143H	R	-	2	0	RUNX3	25126663	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.484000	0.81180	2.642000	0.89623	0.655000	0.94253	CGC		0.597	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		5	426	0	0	0	1	0	5	426					T	25254076	C	T	25254076	3	4	99	1	0	0	0	0	1	0	0	0	13799	768	27	1	835	1	RUNX3	1	25254076	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	2920085	25254076	223996545	3	34599											
ZNF362	149076	broad.mit.edu	37	chr1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaagtccgaacgcggccGcaaaaagatcaaggcggaga	12	13	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	194				R -> L (in Ref. 1; AAL55863). {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(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAACGCGGCCGCAAAAAGATC	0.647																																					Pancreas(162;1431 2676 35353 38425)	ENST00000539719.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10						c.(580-582)cGc>cAc		zinc finger protein 362							24	26	25					1																	33745956		2203	4300	6503	SO:0001583	missense	149076				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33745956G>A		CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"Zinc fingers, C2H2-type"	18079	protein-coding gene	gene with protein product	"rotund homolog (Drosophila)"						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.581G>A	1.37:g.33745956G>A	ENSP00000446335:p.Arg194His					ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN			5	751	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	194	R -> L (in Ref. 1; AAL55863).				Q8WYU4	Missense_Mutation	SNP	ENST00000539719.1	37	c.581G>A	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713649	0.96830	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.09163	3.01;3.01	5.99	5.99	0.97316	.	0.468737	0.18085	N	0.152172	T	0.37404	0.1002	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.02512	-1.1148	10	0.87932	D	0	-36.2752	18.0311	0.89285	0.0:0.0:1.0:0.0	.	194	Q5T0B9	ZN362_HUMAN	H	181;194;194	ENSP00000446335:R194H;ENSP00000362527:R194H	ENSP00000362527:R194H	R	+	2	0	ZNF362	33518543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.314000	0.96306	2.857000	0.98124	0.650000	0.86243	CGC		0.647	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	NM_152493		5	180	0	0	0	1	0	5	180					A	33745956	G	A	33745956	3	1	99	1	0	0	0	0	1	0	0	0	17921	1087	38	1	595	1	ZNF362	1	33745956	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	8491880	33745956	215504665	4	34600											
CSMD2	114784	broad.mit.edu	37	chr1	34276462	34276462	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtgggcatcacacatgCgggctgcagaggagatgaaa	16	7	1	3	rs61771030		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:34276462C>T	ENST00000373381.4	-	10	1504	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	CSMD2_ENST00000338325.1_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	403	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCACACATGCGGGCTGCAGA	0.527																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1327-1329)cGc>cAc		CUB and Sushi multiple domains 2							90	90	90					1																	34276462		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34276462C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1328G>A	1.37:g.34276462C>T	ENSP00000362479:p.Arg443His					CSMD2_ENST00000338325.1_5'UTR	p.R443H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			10	1504	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	403			CUB 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1328G>A		.	.	.	.	.	.	.	.	.	.	C	21.0	4.088319	0.76756	.	.	ENSG00000121904	ENST00000373381	T	0.24538	1.85	5.81	5.81	0.92471	Complement control module (1);	0.063724	0.64402	D	0.000005	T	0.48259	0.1490	L	0.58101	1.795	0.80722	D	1	D;D	0.69078	0.978;0.997	P;D	0.67725	0.816;0.953	T	0.20706	-1.0267	10	0.42905	T	0.14	.	19.0741	0.93151	0.0:1.0:0.0:0.0	rs61771030	403;443	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	443	ENSP00000362479:R443H	ENSP00000241312:R403H	R	-	2	0	CSMD2	34049049	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.198000	0.65147	2.751000	0.94390	0.591000	0.81541	CGC		0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		5	453	0	0	0	1	0	5	453					T	34276462	C	T	34276462	3	4	99	1	0	0	0	0	1	0	0	0	3956	768	27	1	9495	1	CSMD2	1	34276462	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	530506	34276462	214974159	5	34601											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	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.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	548						8	548	---	---	---	---	-	44071948	GCG	-	44071946	7	5	99	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-AAUU-01A-11D-A377-08	9795484	44071946	205178675	6	34602											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		17	308						17	308	---	---	---	---	-	46184898	AC	-	46184897	7	5	99	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-AAUU-01A-11D-A377-08	2112951	46184897	203065724	7	34603											
ZNF644	84146	broad.mit.edu	37	chr1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T													tacatccatttttcgctttcINStttttttttctagacctatt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)agafs	p.R291fs	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.R291fs			Q9H582	ZN644_HUMAN	zinc finger protein 644	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(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)		TTTTCGCTTTCTTTTTTTTTCT	0.337																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(871-873)aaafs		zinc finger protein 644																																				SO:0001589	frameshift_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406039_91406040insT	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.872dupA	1.37:g.91406048_91406048dupT	ENSP00000359469:p.Arg291fs					ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron	p.K291fs			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1088_1089	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	291					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Frame_Shift_Ins	INS	ENST00000370440.1	37	c.871_872insA	CCDS731.1																																																																																				0.337	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		15	612						15	612	---	---	---	---	T	91406040	-	T	91406039	7	5	99	1	0	1	1	0	0	0	0	0	18113	913	32	0	3127	0	ZNF644	1	91406039	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	45221142	91406039	157844582	8	34604											
GLMN	11146	broad.mit.edu	37	chr1	92755861	92755861	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aataattcctttggattgcaTaactataaaaatattcacaa	3	6	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:92755861T>A	ENST00000370360.3	-	5	369	c.288A>T	c.(286-288)ttA>ttT	p.L96F	GLMN_ENST00000534881.1_Missense_Mutation_p.L96F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	96					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTGGATTGCATAACTATAAAA	0.308									Multiple Glomus Tumors (of the Skin), Familial																													ENST00000370360.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17						c.(286-288)ttA>ttT		glomulin, FKBP associated protein							63	65	64					1																	92755861		2202	4299	6501	SO:0001583	missense	11146	Multiple Glomus Tumors (of the Skin), Familial	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding	g.chr1:92755861T>A	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.288A>T	1.37:g.92755861T>A	ENSP00000359385:p.Leu96Phe					GLMN_ENST00000534881.1_Missense_Mutation_p.L96F	p.L96F	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)	5	369	-		all_lung(203;0.00827)|Lung NSC(277;0.0295)	96					Q5VVC3|Q9BVE8	Missense_Mutation	SNP	ENST00000370360.3	37	c.288A>T	CCDS738.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543108	0.65198	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.50548	0.74;0.74	5.65	1.87	0.25490	.	0.418315	0.26231	N	0.025566	T	0.40067	0.1102	L	0.56769	1.78	0.47737	D	0.9995	D;D	0.59767	0.986;0.982	P;P	0.62813	0.907;0.875	T	0.50338	-0.8840	10	0.66056	D	0.02	-2.3571	0.2648	0.00223	0.2109:0.2274:0.2068:0.3549	.	96;96	B4DJ85;Q92990	.;GLMN_HUMAN	F	96	ENSP00000359385:L96F;ENSP00000440156:L96F	ENSP00000359385:L96F	L	-	3	2	GLMN	92528449	0.519000	0.26242	1.000000	0.80357	0.995000	0.86356	-0.704000	0.05058	1.033000	0.39918	0.533000	0.62120	TTA		0.308	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070		50	256	0	0	0	1	0	50	256					A	92755861	T	A	92755861	3	1	99	1	0	0	0	0	1	0	0	0	6477	1403	49	5	1556	5	GLMN	1	92755861	Missense_Mutation	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08	1349822	92755861	156494760	9	34605											
ADORA3	140	broad.mit.edu	37	chr1	112042946	112042946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgtcaagatagatggCgcacatgacaaccaggggga	13	7	1	4	rs143962803	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:112042946C>T	ENST00000241356.4	-	2	988	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	195					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A195T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	AGATAGATGGCGCACATGACA	0.433													C|||	3	0.000599042	0.0023	0.0	5008	,	,		25187	0.0		0.0	False		,,,				2504	0.0					ENST00000241356.4																			1	Substitution - Missense(1)	p.A195T(1)	lung(1)	NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(583-585)Gcc>Acc		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)	C	THR/ALA,,	24,4382	32.6+/-62.9	0,24,2179	145	136	139		583,,	2.1	0.2	1	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	58,,	0,25,6478	TT,TC,CC		0.0116,0.5447,0.1922	benign,,	195/319,,	112042946	25,12981	2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112042946C>T	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.583G>A	1.37:g.112042946C>T	ENSP00000241356:p.Ala195Thr					ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	p.A195T	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	988	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	195					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	c.583G>A	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	9.584	1.124357	0.20959	0.005447	1.16E-4	ENSG00000121933	ENST00000241356	T	0.37058	1.22	5.01	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10852	0.0265	L	0.39467	1.215	0.23174	N	0.998173	P	0.41784	0.762	B	0.36534	0.227	T	0.11717	-1.0576	9	0.27785	T	0.31	.	8.8535	0.35214	0.0:0.6997:0.0:0.3003	.	195	P33765	AA3R_HUMAN	T	195	ENSP00000241356:A195T	ENSP00000241356:A195T	A	-	1	0	ADORA3	111844469	0.077000	0.21312	0.173000	0.22940	0.021000	0.10359	1.197000	0.32211	0.227000	0.20999	0.655000	0.94253	GCC		0.433	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683		138	319	0	0	0	1	0	138	319					T	112042946	C	T	112042946	3	4	99	1	0	0	0	0	1	0	0	0	329	768	27	1	1091	1	ADORA3	1	112042946	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	19287085	112042946	137207675	10	34606											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879387	144879387	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagatctttgatgtcctttcGtaggaccaagatgttttctg	9	8	2	3	rs587614214	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:144879387G>A	ENST00000369354.3	-	27	4252	c.4063C>T	c.(4063-4065)Cga>Tga	p.R1355*	PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1355					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R1355*(2)		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)		ATGTCCTTTCGTAGGACCAAG	0.493			T	PDGFRB	MPD								.|||	5	0.000998403	0.0	0.0	5008	,	,		38744	0.0		0.0	False		,,,				2504	0.0051					ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Nonsense(2)	p.R1355*(2)	kidney(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4471-4473)Cga>Tga		phosphodiesterase 4D interacting protein							199	221	213					1																	144879387		2203	4299	6502	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879387G>A	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.4063C>T	1.37:g.144879387G>A	ENSP00000358360:p.Arg1355*					PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1355*	p.R1491*			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4509	-			1355					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.4471C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	39	7.892681	0.98548	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.	.	.	5.08	0.624	0.17659	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3363	0.15959	0.1585:0.0:0.4957:0.3458	.	.	.	.	X	1311;1355;1355;1491;1491	.	ENSP00000327209:R1311X	R	-	1	2	PDE4DIP	143590744	0.003000	0.15002	0.000000	0.03702	0.051000	0.14879	1.309000	0.33539	-0.042000	0.13535	-0.131000	0.14894	CGA		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	2144	0	0	0	1	0	10	2144					A	144879387	G	A	144879387	4	1	99	1	0	0	0	0	0	1	0	0	11685	1153	40	1	3049	1	PDE4DIP	1	144879387	Nonsense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	32836441	144879387	104371234	11	34607											
CRNN	49860	broad.mit.edu	37	chr1	152382699	152382699	+	Missense_Mutation	SNP	C	C	T													tgtccctgcctgtatctgagCatgtcctcctgtcacagcct							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:152382699C>T	ENST00000271835.3	-	3	921	c.859G>A	c.(859-861)Gct>Act	p.A287T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	287	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGCATGTCCTCCT	0.612																																						ENST00000271835.3																			0				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						c.(859-861)Gct>Act		cornulin							282	275	277					1																	152382699		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382699C>T	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.859G>A	1.37:g.152382699C>T	ENSP00000271835:p.Ala287Thr					RP1-91G5.3_ENST00000411804.1_RNA	p.A287T	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	921	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		287			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.859G>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304458	0.23736	.	.	ENSG00000143536	ENST00000271835	T	0.04156	3.69	4.79	-4.07	0.03975	.	2.442530	0.01253	N	0.008949	T	0.00468	0.0015	N	0.01729	-0.75	0.09310	N	1	B	0.31026	0.304	B	0.26693	0.072	T	0.43734	-0.9373	10	0.22109	T	0.4	.	0.8616	0.01194	0.1531:0.202:0.2888:0.3561	.	287	Q9UBG3	CRNN_HUMAN	T	287	ENSP00000271835:A287T	ENSP00000271835:A287T	A	-	1	0	CRNN	150649323	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.575000	0.00910	-0.432000	0.07297	0.580000	0.79431	GCT		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		7	1444	0	0	0	1	0	7	1444					T	152382699	C	T	152382699	3	4	99	1	0	0	0	0	1	0	0	0	3901	710	25	2	632	2	CRNN	1	152382699	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	7503312	152382699	96867922	12	34608	220	2									
CRNN	49860	broad.mit.edu	37	chr1	152382700	152382700	+	Silent	SNP	A	A	G													gtccctgcctgtatctgagcAtgtcctcctgtcacagcctg							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:152382700A>G	ENST00000271835.3	-	3	920	c.858T>C	c.(856-858)caT>caC	p.H286H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	286	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.H286H(1)		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)			GTATCTGAGCATGTCCTCCTG	0.612																																						ENST00000271835.3																			1	Substitution - coding silent(1)	p.H286H(1)	endometrium(1)	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						c.(856-858)caT>caC		cornulin							282	275	277					1																	152382700		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382700A>G	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.858T>C	1.37:g.152382700A>G						RP1-91G5.3_ENST00000411804.1_RNA	p.H286H	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	920	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		286			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.858T>C	CCDS1010.1																																																																																				0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		7	1438	0	0	0	1	0	7	1438					G	152382700	A	G	152382700	2	3	99	1	0	0	0	0	0	0	0	1	3901	214	8	4		4	CRNN	1	152382700	Silent	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	1	152382700	96867921	13	34609	220	2									
SPTA1	6708	broad.mit.edu	37	chr1	158585164	158585164	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaatcttggttagttgacgCttcatcgcctggatctcctt	8	11	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:158585164C>T	ENST00000368147.4	-	48	6810	c.6630G>A	c.(6628-6630)aaG>aaA	p.K2210K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2210					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)					TTAGTTGACGCTTCATCGCCT	0.483																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6628-6630)aaG>aaA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							166	161	162					1																	158585164		1934	4147	6081	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158585164C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6630G>A	1.37:g.158585164C>T						SPTA1_ENST00000368147.3_Silent_p.K2207K	p.K2210K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			48	6810	-	all_hematologic(112;0.0378)		2210					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6630G>A	CCDS41423.1																																																																																				0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	699	0	0	0	1	0	6	699					T	158585164	C	T	158585164	2	4	99	1	0	0	0	0	0	0	0	1	15168	796	28	2		2	SPTA1	1	158585164	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	6202464	158585164	90665457	14	34610											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		9	272	0	0	0	1	0	9	272					A	162769603	G	A	162769603	3	1	99	1	0	0	0	0	1	0	0	0	7418	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	4184439	162769603	86481018	15	34611											
DCAF6	55827	broad.mit.edu	37	chr1	167960489	167960489	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtctgttgctatttgCccaccaataccatattacct	5	14	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:167960489C>T	ENST00000312263.6	+	6	804	c.600C>T	c.(598-600)tgC>tgT	p.C200C	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.C200C|DCAF6_ENST00000367840.3_Silent_p.C200C|DCAF6_ENST00000432587.2_Silent_p.C169C	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	200					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						TTGCTATTTGCCCACCAATAC	0.393																																						ENST00000367840.3																			0				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						c.(598-600)tgC>tgT		DDB1 and CUL4 associated factor 6							147	132	137					1																	167960489		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167960489C>T	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.600C>T	1.37:g.167960489C>T						DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.C200C|DCAF6_ENST00000432587.2_Silent_p.C169C|DCAF6_ENST00000312263.6_Silent_p.C200C	p.C200C	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN			6	694	+			200					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.600C>T	CCDS30933.1																																																																																				0.393	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		5	521	0	0	0	1	0	5	521					T	167960489	C	T	167960489	2	4	99	1	0	0	0	0	0	0	0	1	4285	747	26	2		2	DCAF6	1	167960489	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	5190886	167960489	81290132	16	34612											
PRELP	5549	broad.mit.edu	37	chr1	203452429	203452430	+	Frame_Shift_Ins	INS	-	-	C													ggcgcagacccaggcccaggINScccaggcccacacccagctt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:203452429_203452430insC	ENST00000343110.2	+	2	244_245	c.117_118insC	c.(118-120)cccfs	p.P40fs		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	40					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)			CCAGGCCCAGGCCCAGGCCCAC	0.653																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(115-120)agccagfs		proline/arginine-rich end leucine-rich repeat protein																																				SO:0001589	frameshift_variant	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452429_203452430insC	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.120dupC	1.37:g.203452432_203452432dupC	ENSP00000343924:p.Pro40fs						p.Q40fs	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	244_245	+			40					Q6FG38	Frame_Shift_Ins	INS	ENST00000343110.2	37	c.117_118insC	CCDS1438.1																																																																																				0.653	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		16	452						16	452	---	---	---	---	C	203452430	-	C	203452429	7	5	99	1	0	1	1	0	0	0	0	0	12520	1194	42	0	119	0	PRELP	1	203452429	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	35491940	203452429	45798192	17	34613											
TAF5L	27097	broad.mit.edu	37	chr1	229730385	229730385	+	Frame_Shift_Del	DEL	A	A	-													caagtacttaccgttgggagAaaaggcgagagaaagcacgg							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:229730385delA	ENST00000366676.1	-	4	1428	c.1429delT	c.(1429-1431)tctfs	p.S477fs	TAF5L_ENST00000258281.2_Frame_Shift_Del_p.S477fs			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	477					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)				CCGTTGGGAGAAAAGGCGAGA	0.602																																						ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1429-1431)ctfs		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							75	79	78					1																	229730385		2203	4300	6503	SO:0001589	frameshift_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730385delA	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.1429delT	1.37:g.229730385delA	ENSP00000355636:p.Ser477fs					TAF5L_ENST00000366676.1_Frame_Shift_Del_p.S477fs	p.S477fs	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1594	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	477					Q5TDI5|Q5TDI6|Q8IW31	Frame_Shift_Del	DEL	ENST00000366676.1	37	c.1429delT	CCDS1581.1																																																																																				0.602	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		8	740						8	740	---	---	---	---	-	229730385	A	-	229730385	7	5	99	1	0	1	0	1	0	0	0	0	15581	246	9	0	344	0	TAF5L	1	229730385	Frame_Shift_Del	DEL	A	TCGA-IB-AAUU-01A-11D-A377-08	26277956	229730385	19520236	18	34614											
HEATR1	55127	broad.mit.edu	37	chr1	236762848	236762848	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttagaagctgtatgactcGcacaaatattcttgtctcgt	7	8	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:236762848G>A	ENST00000366582.3	-	4	550	c.436C>T	c.(436-438)Cga>Tga	p.R146*	HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R146*|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	146					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTATGACTCGCACAAATATT	0.368																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(436-438)Cga>Tga		HEAT repeat containing 1							129	130	129					1																	236762848		2203	4300	6503	SO:0001587	stop_gained	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236762848G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.436C>T	1.37:g.236762848G>A	ENSP00000355541:p.Arg146*					HEATR1_ENST00000366581.2_Nonsense_Mutation_p.R146*|HEATR1_ENST00000483073.1_5'UTR	p.R146*	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		4	550	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	146					Q5T3Q8|Q6P197|Q9NW23	Nonsense_Mutation	SNP	ENST00000366582.3	37	c.436C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	38	7.045839	0.98025	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6914	0.77457	0.0:0.0:0.855:0.145	.	.	.	.	X	146	.	ENSP00000355540:R146X	R	-	1	2	HEATR1	234829471	1.000000	0.71417	0.945000	0.38365	0.991000	0.79684	1.649000	0.37281	2.812000	0.96745	0.561000	0.74099	CGA		0.368	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		6	463	0	0	0	1	0	6	463					A	236762848	G	A	236762848	4	1	99	1	0	0	0	0	0	1	0	0	7057	1095	38	1	6166	1	HEATR1	1	236762848	Nonsense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	7032463	236762848	12487773	19	34615											
RYR2	6262	broad.mit.edu	37	chr1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctatgcagtgaaggccGgacggtggtattttgaattt	13	6	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3295-3297)Gga>Aga		ryanodine receptor 2 (cardiac)							133	134	134					1																	237729947		1973	4146	6119	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729947G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3295G>A	1.37:g.237729947G>A	ENSP00000355533:p.Gly1099Arg					RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	p.G1099R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3612	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1099			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3295G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569236	0.86439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000010	D	0.96645	0.8905	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1099	Q92736	RYR2_HUMAN	R	1099;1097;1083	ENSP00000355533:G1099R;ENSP00000353174:G1097R;ENSP00000443798:G1083R	ENSP00000353174:G1097R	G	+	1	0	RYR2	235796570	1.000000	0.71417	0.874000	0.34290	0.873000	0.50193	7.924000	0.87555	2.465000	0.83290	0.655000	0.94253	GGA		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	627	0	0	0	1	0	6	627					A	237729947	G	A	237729947	3	1	99	1	0	0	0	0	1	0	0	0	13819	1117	39	1	3405	1	RYR2	1	237729947	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	967099	237729947	11520674	20	34616											
PUM2	23369	broad.mit.edu	37	chr2	20482977	20482979	+	In_Frame_Del	DEL	GCT	GCT	-													ggctacttgcagttcctccaGctgctgctgctgctgctgta							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:20482977_20482979delGCT	ENST00000361078.2	-	11	1471_1473	c.1449_1451delAGC	c.(1447-1452)gcagct>gct	p.483_484AA>A	PUM2_ENST00000338086.5_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000536417.1_In_Frame_Del_p.427_428AA>A|PUM2_ENST00000403432.1_In_Frame_Del_p.483_484AA>A|PUM2_ENST00000319801.5_In_Frame_Del_p.483_484AA>A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	483	Ala-rich.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCCTCCAGCTGCTGCTGCTG	0.424																																						ENST00000361078.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1447-1452)gct>gc		pumilio RNA-binding family member 2																																				SO:0001651	inframe_deletion	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482977_20482979delGCT	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1449_1451delAGC	2.37:g.20482986_20482988delGCT	ENSP00000354370:p.Ala484del					PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del	p.AA483del			Q8TB72	PUM2_HUMAN			11	1471_1473	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		483			Ala-rich.		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	In_Frame_Del	DEL	ENST00000361078.2	37	c.1449_1451delAGC																																																																																					0.424	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317		9	460						9	460	---	---	---	---	-	20482979	GCT	-	20482977	7	5	99	1	0	1	0	1	0	0	0	0	12876	971	34	0	1783	0	PUM2	2	20482977	In_Frame_Del	DEL	GCT	TCGA-IB-AAUU-01A-11D-A377-08		20482977	222716396	21	34617											
CGREF1	10669	broad.mit.edu	37	chr2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccgggggcatctccttCagcctctgcctggcccccag	13	18	3	0	rs113949888		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000402550.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	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)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56	67	63					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	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.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		6	682	0	0	0	1	0	6	682					T	27324303	C	T	27324303	3	4	99	1	0	0	0	0	1	0	0	0	3314	835	29	2	356	2	CGREF1	2	27324303	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	6841326	27324303	215875070	22	34618											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		8	403						8	403	---	---	---	---	-	39095413	CCA	-	39095411	7	5	99	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-IB-AAUU-01A-11D-A377-08	11771108	39095411	204103962	23	34619											
CCDC88A	55704	broad.mit.edu	37	chr2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-													tctgtttgagagcttcataaTtttttttcacctaaaatttt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_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	1003					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						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55	55	55					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	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.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		7	473						7	473	---	---	---	---	-	55549818	T	-	55549818	7	5	99	1	0	1	0	1	0	0	0	0	2870	1493	52	0	2667	0	CCDC88A	2	55549818	Frame_Shift_Del	DEL	T	TCGA-IB-AAUU-01A-11D-A377-08	16454407	55549818	187649555	24	34620											
SEMA4F	10505	broad.mit.edu	37	chr2	74889902	74889902	+	Frame_Shift_Del	DEL	G	G	-													tgaaagacttgagagtggccGggggaaatgtccttttgagc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:74889902delG	ENST00000357877.2	+	5	649	c.500delG	c.(499-501)cggfs	p.R167fs	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	167	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						GAGAGTGGCCGGGGGAAATGT	0.517																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(499-501)cgfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							175	171	172					2																	74889902		2203	4300	6503	SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74889902delG	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.500delG	2.37:g.74889902delG	ENSP00000350547:p.Arg167fs					SEMA4F_ENST00000339773.5_Intron	p.R167fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			5	649	+			167			Sema.		Q542Y7|Q9NS35	Frame_Shift_Del	DEL	ENST00000357877.2	37	c.500delG	CCDS1955.1																																																																																				0.517	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		7	1204						7	1204	---	---	---	---	-	74889902	G	-	74889902	7	5	99	1	0	1	0	1	0	0	0	0	14085	1116	39	0	518	0	SEMA4F	2	74889902	Frame_Shift_Del	DEL	G	TCGA-IB-AAUU-01A-11D-A377-08	19340084	74889902	168309471	25	34621											
HK2	3099	broad.mit.edu	37	chr2	75118049	75118049	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggcctgccgcatccGtgaggctggacagcgataga	15	11	0	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:75118049G>A	ENST00000290573.2	+	18	3335	c.2735G>A	c.(2734-2736)cGt>cAt	p.R912H	HK2_ENST00000409174.1_Missense_Mutation_p.R884H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	912	Catalytic.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R912L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGCCGCATCCGTGAGGCTGGA	0.542																																						ENST00000290573.2																			1	Substitution - Missense(1)	p.R912L(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(2734-2736)cGt>cAt		hexokinase 2							51	53	53					2																	75118049		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75118049G>A		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.2735G>A	2.37:g.75118049G>A	ENSP00000290573:p.Arg912His					HK2_ENST00000409174.1_Missense_Mutation_p.R884H	p.R912H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			18	3335	+			912			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2735G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882526	0.72294	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97553	-4.43;-4.43	4.99	4.99	0.66335	.	0.056749	0.64402	D	0.000001	D	0.93926	0.8056	L	0.41079	1.255	0.80722	D	1	D	0.61080	0.989	B	0.39027	0.288	D	0.93726	0.7037	10	0.40728	T	0.16	-11.9165	15.8192	0.78626	0.0:0.0:1.0:0.0	.	912	P52789	HXK2_HUMAN	H	912;912;884	ENSP00000290573:R912H;ENSP00000387140:R884H	ENSP00000290573:R912H	R	+	2	0	HK2	74971557	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	4.459000	0.60102	2.609000	0.88269	0.561000	0.74099	CGT		0.542	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		5	441	0	0	0	1	0	5	441					A	75118049	G	A	75118049	3	1	99	1	0	0	0	0	1	0	0	0	7221	1145	40	1	2805	1	HK2	2	75118049	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	228147	75118049	168081324	26	34622											
AFF3	3899	broad.mit.edu	37	chr2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacttgttagaggatgCcggttcagcctgaaagcaga	12	10	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:100210742C>T	ENST00000409236.2	-	13	1493	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000317233.4_Missense_Mutation_p.A461T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443																																						ENST00000317233.4																			1	Substitution - Missense(1)	p.A486T(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1381-1383)Gca>Aca		AF4/FMR2 family, member 3							124	137	133					2																	100210742		2058	4218	6276	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210742C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1381G>A	2.37:g.100210742C>T	ENSP00000387207:p.Ala461Thr					AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T|AFF3_ENST00000356421.2_Missense_Mutation_p.A486T	p.A461T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	1616	-			461					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1381G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959682	0.53400	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.87	5.87	0.94306	.	0.205024	0.35207	N	0.003365	T	0.72716	0.3495	L	0.51422	1.61	0.42120	D	0.991429	D;D;D	0.64830	0.994;0.959;0.976	D;P;P	0.66716	0.946;0.721;0.461	T	0.71692	-0.4516	10	0.45353	T	0.12	.	14.3946	0.67003	0.0:0.7418:0.2582:0.0	.	614;461;486	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	T	461;486;486;461;461;614;486	ENSP00000317421:A461T;ENSP00000348793:A486T;ENSP00000386834:A486T;ENSP00000387207:A461T	ENSP00000317421:A461T	A	-	1	0	AFF3	99577174	1.000000	0.71417	0.491000	0.27477	0.460000	0.32559	5.786000	0.69006	2.781000	0.95711	0.655000	0.94253	GCA		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		7	899	0	0	0	1	0	7	899					T	100210742	C	T	100210742	3	4	99	1	0	0	0	0	1	0	0	0	358	739	26	2	2343	2	AFF3	2	100210742	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	25092693	100210742	142988631	27	34623											
IL1R2	7850	broad.mit.edu	37	chr2	102638648	102638649	+	Splice_Site	INS	-	-	A													tttccttacatctttctcagINSaaaaaaaagaagagaccatt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000441002.1_Splice_Site|IL1R2_ENST00000393414.2_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						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						ATCTTTCTCAGAAAAAAAAGAA	0.441																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.e6-1		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001630	splice_region_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638648_102638649insA	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.689-1->A	2.37:g.102638656_102638656dupA						IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site		NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	917_918	+								D3DVJ5|Q6LCE6|Q9UE68	Splice_Site	INS	ENST00000332549.3	37		CCDS2054.1																																																																																				0.441	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	Intron	10	1413						10	1413	---	---	---	---	A	102638649	-	A	102638648	8	5	99	1	0	1	1	0	0	0	1	0	7689	956	33	0	706	0	IL1R2	2	102638648	Splice_Site	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	2427906	102638648	140560725	28	34624											
RGPD3	653489	broad.mit.edu	37	chr2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttttatttctgaatccGcatttcgcaaagaaccattt	5	8	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gCg>gTg		RANBP2-like and GRIP domain containing 3							90	75	80					2																	107049632		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049632G>A		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.2315C>T	2.37:g.107049632G>A	ENSP00000386588:p.Ala772Val					RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2402	-			772					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2315C>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	3.284	-0.146450	0.06627	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23348	1.91;1.91	2.34	1.42	0.22433	.	.	.	.	.	T	0.19127	0.0459	L	0.47716	1.5	0.22947	N	0.998528	B	0.15141	0.012	B	0.06405	0.002	T	0.16778	-1.0391	9	0.37606	T	0.19	-0.1623	4.3139	0.10984	0.2042:0.0:0.7958:0.0	.	772	A6NKT7	RGPD3_HUMAN	V	772;530;772	ENSP00000386588:A772V;ENSP00000303659:A772V	ENSP00000303659:A772V	A	-	2	0	RGPD3	106416064	0.918000	0.31147	0.919000	0.36401	0.028000	0.11728	0.415000	0.21181	1.308000	0.44962	0.173000	0.16961	GCG		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		12	1489	0	0	0	1	0	12	1489					A	107049632	G	A	107049632	3	1	99	1	0	0	0	0	1	0	0	0	13337	1087	38	1	2993	1	RGPD3	2	107049632	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	4410984	107049632	136149741	29	34625											
CCDC74A	90557	broad.mit.edu	37	chr2	132290248	132290249	+	Frame_Shift_Ins	INS	-	-	C													cagatgggggcgggggcacaINSccccccaatgatcctgcccc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:132290248_132290249insC	ENST00000295171.6	+	5	908_909	c.770_771insC	c.(769-774)caccccfs	p.HP257fs	CCDC74A_ENST00000409856.3_Frame_Shift_Ins_p.HP191fs|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCGGGGGCACACCCCCCAATGA	0.599																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(769-771)cccfs		coiled-coil domain containing 74A																																				SO:0001589	frameshift_variant	90557							g.chr2:132290248_132290249insC		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.776dupC	2.37:g.132290254_132290254dupC	ENSP00000295171:p.His257fs					CCDC74A_ENST00000409856.3_Frame_Shift_Ins_p.P191fs|CCDC74A_ENST00000467992.2_3'UTR	p.P257fs	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	908_909	+			257					Q6P4I5	Frame_Shift_Ins	INS	ENST00000295171.6	37	c.770_771insC	CCDS2167.1																																																																																				0.599	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		7	850						7	850	---	---	---	---	C	132290249	-	C	132290248	7	5	99	1	0	1	1	0	0	0	0	0	2854	159	6	0	788	0	CCDC74A	2	132290248	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	25240616	132290248	110909125	30	34626											
SCN2A	6326	broad.mit.edu	37	chr2	166201198	166201198	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcatttttgctgtggtcgGcatgcagctctttggtaaga	11	8	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:166201198G>A	ENST00000375437.2	+	16	2986	c.2696G>A	c.(2695-2697)gGc>gAc	p.G899D	SCN2A_ENST00000357398.3_Missense_Mutation_p.G899D|SCN2A_ENST00000283256.6_Missense_Mutation_p.G899D|SCN2A_ENST00000375427.2_Missense_Mutation_p.G899D	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	899					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)	GCTGTGGTCGGCATGCAGCTC	0.443																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2695-2697)gGc>gAc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						169	160	163					2																	166201198		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166201198G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2696G>A	2.37:g.166201198G>A	ENSP00000364586:p.Gly899Asp					SCN2A_ENST00000375427.2_Missense_Mutation_p.G899D|SCN2A_ENST00000283256.6_Missense_Mutation_p.G899D|SCN2A_ENST00000375437.2_Missense_Mutation_p.G899D	p.G899D			Q99250	SCN2A_HUMAN			16	2986	+			899					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2696G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064264	0.93898	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.74	5.74	0.90152	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99444	0.9803	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98030	1.0376	10	0.87932	D	0	.	19.9329	0.97127	0.0:0.0:1.0:0.0	.	899;899	Q99250-2;Q99250	.;SCN2A_HUMAN	D	899	ENSP00000364586:G899D;ENSP00000349973:G899D;ENSP00000283256:G899D;ENSP00000364576:G899D	ENSP00000283256:G899D	G	+	2	0	SCN2A	165909444	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.735000	0.98825	2.714000	0.92807	0.650000	0.86243	GGC		0.443	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		7	778	0	0	0	1	0	7	778					A	166201198	G	A	166201198	3	1	99	1	0	0	0	0	1	0	0	0	13966	1203	42	2	2850	2	SCN2A	2	166201198	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	33910950	166201198	76998175	31	34627											
RBM45	129831	broad.mit.edu	37	chr2	178977303	178977304	+	Frame_Shift_Ins	INS	-	-	G													ctggcagctctgcgagcggcINSgggggcttccgcccgggcgt					rs146365140		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:178977303_178977304insG	ENST00000286070.5	+	1	122_123	c.30_31insG	c.(31-33)gggfs	p.G11fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	11					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)			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)			CTGCGAGCGGCGGGGGCTTCCG	0.644											OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(28-33)ggggggfs		RNA binding motif protein 45																																				SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178977303_178977304insG	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.35dupG	2.37:g.178977308_178977308dupG	ENSP00000286070:p.Gly11fs		OREG0015102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1950		p.GG10fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		1	122_123	+			10					Q6NYL0|Q8NFC9	Frame_Shift_Ins	INS	ENST00000286070.5	37	c.30_31insG	CCDS33335.1																																																																																				0.644	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		8	296						8	296	---	---	---	---	G	178977304	-	G	178977303	7	5	99	1	0	1	1	0	0	0	0	0	13189	755	27	0	32	0	RBM45	2	178977303	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	12776105	178977303	64222070	32	34628											
TTN	7273	broad.mit.edu	37	chr2	179407109	179407109	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtctggtaaacttaaaCgtggacctagtcactgattc	10	8	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:179407109C>T	ENST00000591111.1	-	299	92675	c.92451G>A	c.(92449-92451)acG>acA	p.T30817T	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T23518T|TTN_ENST00000342992.6_Silent_p.T29890T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T23585T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.T32458T|TTN_ENST00000460472.2_Silent_p.T23393T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30817	Fibronectin type-III 124. {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)			TAAACTTAAACGTGGACCTAG	0.502																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(97372-97374)acG>acA		titin							76	73	74					2																	179407109		2038	4201	6239	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407109C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92451G>A	2.37:g.179407109C>T						TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.T23393T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T23585T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.T30817T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.T29890T|TTN_ENST00000359218.5_Silent_p.T23518T	p.T32458T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		349	97598	-			30817					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.97374G>A																																																																																					0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	134	0	0	0	1	0	51	134					T	179407109	C	T	179407109	2	4	99	1	0	0	0	0	0	0	0	1	16789	523	19	1		1	TTN	2	179407109	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	429806	179407109	63792264	33	34629											
HECW2	57520	broad.mit.edu	37	chr2	197187274	197187274	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacgcttgatgatgggaCggctcttggcaaatttgtct	12	7	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:197187274C>T	ENST00000260983.3	-	7	994	c.812G>A	c.(811-813)cGt>cAt	p.R271H	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	271	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						GATGATGGGACGGCTCTTGGC	0.423																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(811-813)cGt>cAt		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							131	137	135					2																	197187274		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197187274C>T	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.812G>A	2.37:g.197187274C>T	ENSP00000260983:p.Arg271His					HECW2_ENST00000409111.1_5'UTR	p.R271H	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			7	994	-			271			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.812G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137069	0.94517	.	.	ENSG00000138411	ENST00000260983	T	0.46451	0.87	5.49	4.6	0.57074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.191653	0.47455	D	0.000223	T	0.44973	0.1319	M	0.75447	2.3	0.58432	D	0.999998	B	0.29627	0.252	B	0.26614	0.071	T	0.51741	-0.8667	10	0.87932	D	0	.	14.9482	0.71050	0.0:0.9304:0.0:0.0696	.	271	Q9P2P5	HECW2_HUMAN	H	271	ENSP00000260983:R271H	ENSP00000260983:R271H	R	-	2	0	HECW2	196895519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.912000	0.69948	2.878000	0.98634	0.650000	0.86243	CGT		0.423	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		97	710	0	0	0	1	0	97	710					T	197187274	C	T	197187274	3	4	99	1	0	0	0	0	1	0	0	0	7073	536	19	1	3998	1	HECW2	2	197187274	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	17780165	197187274	46012099	34	34630											
GTF3C3	9330	broad.mit.edu	37	chr2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T													tgaggtgccttcttctgaagINStttttttttccagcacaatt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	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																																						ENST00000263956.3																			0				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						c.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	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					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			7	382						7	382	---	---	---	---	T	197649614	-	T	197649613	7	5	99	1	0	1	1	0	0	0	0	0	6904	1029	36	0	1622	0	GTF3C3	2	197649613	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	462339	197649613	45549760	35	34631											
DOCK10	55619	broad.mit.edu	37	chr2	225729790	225729790	+	Frame_Shift_Del	DEL	A	A	-													tcataaagtgccacactcacAaaaaaaggctcaatctgcat							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:225729790delA	ENST00000258390.7	-	12	1339	c.1272delT	c.(1270-1272)tttfs	p.F424fs	DOCK10_ENST00000409592.3_Frame_Shift_Del_p.F418fs	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	424					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)		CCACACTCACAAAAAAAGGCT	0.398																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1252-1254)ttfs		dedicator of cytokinesis 10							89	86	87					2																	225729790		1897	4124	6021	SO:0001589	frameshift_variant	55619						GTP binding	g.chr2:225729790delA	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.1272delT	2.37:g.225729790delA	ENSP00000258390:p.Phe424fs					DOCK10_ENST00000258390.7_Frame_Shift_Del_p.F424fs	p.F418fs			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	12	1367	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	424					B3FL70|O75178|Q9NW06|Q9NXI8	Frame_Shift_Del	DEL	ENST00000258390.7	37	c.1254delT	CCDS46528.1																																																																																				0.398	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	589						7	589	---	---	---	---	-	225729790	A	-	225729790	7	5	99	1	0	1	0	1	0	0	0	0	4701	127	5	0	5468	0	DOCK10	2	225729790	Frame_Shift_Del	DEL	A	TCGA-IB-AAUU-01A-11D-A377-08	28080177	225729790	17469583	36	34632											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					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)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	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.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		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)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		8	331						8	331	---	---	---	---	T	234394237	-	T	234394236	7	5	99	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	8664446	234394236	8805137	37	34633											
PLCL2	23228	broad.mit.edu	37	chr3	17052241	17052241	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcttaaaatgggttgccGgagtgttgaattagatgtat	12	4	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:17052241G>A	ENST00000418129.2	+	2	1490	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.R342Q|PLCL2_ENST00000396755.2_Missense_Mutation_p.R342Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	468					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGGGTTGCCGGAGTGTTGAA	0.423																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(1024-1026)cGg>cAg		phospholipase C-like 2							110	108	109					3																	17052241		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052241G>A	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1025G>A	3.37:g.17052241G>A	ENSP00000409637:p.Arg342Gln					PLCL2_ENST00000432376.1_Missense_Mutation_p.R342Q|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.R342Q	p.R342Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			2	1490	+			468					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.1025G>A	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.776979|4.776979	0.90195|0.90195	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.81163	.|-1.46;-1.46;-1.46	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.053332	.|0.64402	.|N	.|0.000001	D|D	0.90841|0.90841	0.7123|0.7123	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.90920|0.90920	0.4782|0.4782	4|9	.|0.87932	.|D	.|0	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|468	.|Q9UPR0	.|PLCL2_HUMAN	R|Q	86|342;469;342;342	.|ENSP00000409637:R342Q;ENSP00000379979:R342Q;ENSP00000412836:R342Q	.|ENSP00000285094:R469Q	G|R	+|+	1|2	0|0	PLCL2|PLCL2	17027245|17027245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.869000|9.869000	0.99810|0.99810	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.423	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			6	646	0	0	0	1	0	6	646					A	17052241	G	A	17052241	3	1	99	1	0	0	0	0	1	0	0	0	12082	1116	39	1	1403	1	PLCL2	3	17052241	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		17052241	180970189	38	34634											
CX3CR1	1524	broad.mit.edu	37	chr3	39307048	39307048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaatcaacgtggactgagCgcccacacaggacagccagg	12	12	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:39307048C>T	ENST00000541347.1	-	2	1192	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CX3CR1_ENST00000358309.3_Missense_Mutation_p.R350H|CX3CR1_ENST00000542107.1_Missense_Mutation_p.R318H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R318H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	318					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)		GTGGACTGAGCGCCCACACAG	0.478																																						ENST00000541347.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(952-954)cGc>cAc		chemokine (C-X3-C motif) receptor 1							118	118	118					3																	39307048		1976	4166	6142	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307048C>T	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.953G>A	3.37:g.39307048C>T	ENSP00000439140:p.Arg318His					CX3CR1_ENST00000358309.3_Missense_Mutation_p.R350H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R318H|CX3CR1_ENST00000542107.1_Missense_Mutation_p.R318H	p.R318H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	1192	-			318					A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.953G>A	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763877	0.49574	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.7	-8.52	0.00920	.	1.700860	0.02376	N	0.078318	T	0.30230	0.0758	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20840	-1.0263	10	0.42905	T	0.14	.	7.9385	0.29944	0.0938:0.5777:0.0943:0.2342	.	318	P49238	CX3C1_HUMAN	H	318;326;350;318;318	ENSP00000382166:R318H;ENSP00000351059:R350H;ENSP00000439140:R318H;ENSP00000444928:R318H	ENSP00000351059:R350H	R	-	2	0	CX3CR1	39282052	0.000000	0.05858	0.000000	0.03702	0.660000	0.38997	-2.416000	0.01035	-1.421000	0.02007	0.655000	0.94253	CGC		0.478	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		6	796	0	0	0	1	0	6	796					T	39307048	C	T	39307048	3	4	99	1	0	0	0	0	1	0	0	0	4086	768	27	1	118	1	CX3CR1	3	39307048	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	22254807	39307048	158715382	39	34635											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs			Q68DE3	K2018_HUMAN	KIAA2018	148						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						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	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.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		12	482						12	482	---	---	---	---	-	113380090	T	-	113380090	7	5	99	1	0	1	0	1	0	0	0	0	8298	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-IB-AAUU-01A-11D-A377-08	74073042	113380090	84642340	40	34636											
CD86	942	broad.mit.edu	37	chr3	121822466	121822466	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctagtagtattttggCaggaccaggaaaacttggtt	13	5	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:121822466C>T	ENST00000330540.2	+	3	288	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000393627.2_Nonsense_Mutation_p.Q52*|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000483949.1_3'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	58	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)	AGTATTTTGGCAGGACCAGGA	0.418																																					GBM(67;1379 1389 36064 39806)	ENST00000330540.2																			0				breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23						c.(172-174)Cag>Tag		CD86 molecule	Abatacept(DB01281)						114	114	114					3																	121822466		2203	4300	6503	SO:0001587	stop_gained	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822466C>T		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.172C>T	3.37:g.121822466C>T	ENSP00000332049:p.Gln58*					CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Nonsense_Mutation_p.Q52*|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_5'UTR|CD86_ENST00000493101.1_Intron	p.Q58*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	288	+			58			Ig-like V-type.		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Nonsense_Mutation	SNP	ENST00000330540.2	37	c.172C>T	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.0|20.0	3.930423|3.930423	0.73327|0.73327	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000478741|ENST00000330540;ENST00000482356;ENST00000393627	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.53938	.|D	.|0.000056	T|.	0.72835|.	0.3510|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72043|.	-0.4409|.	4|.	.|0.48119	.|T	.|0.1	-23.0192|-23.0192	14.8575|14.8575	0.70351|0.70351	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	53|58;52;52	.|.	.|ENSP00000332049:Q58X	A|Q	+|+	2|1	0|0	CD86|CD86	123305156|123305156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	3.859000|3.859000	0.55987|0.55987	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.418	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		7	570	0	0	0	1	0	7	570					T	121822466	C	T	121822466	4	4	99	1	0	0	0	0	0	1	0	0	3052	711	25	2	182	2	CD86	3	121822466	Nonsense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	8442376	121822466	76199964	41	34637											
EPHB1	2047	broad.mit.edu	37	chr3	134884864	134884864	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgattgctggctcggcagCggccggggtcgtgttcgttg	17	11	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:134884864C>T	ENST00000398015.3	+	8	2010	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V	EPHB1_ENST00000493838.1_Missense_Mutation_p.A108V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	547					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						GGCTCGGCAGCGGCCGGGGTC	0.567																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1639-1641)gCg>gTg		EPH receptor B1							115	135	128					3																	134884864		2116	4243	6359	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134884864C>T	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.1640C>T	3.37:g.134884864C>T	ENSP00000381097:p.Ala547Val					EPHB1_ENST00000493838.1_Missense_Mutation_p.A108V	p.A547V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			8	2010	+			547					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1640C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129979	0.56721	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.10477	2.87;2.87	6.07	6.07	0.98685	.	0.056918	0.64402	D	0.000002	T	0.09598	0.0236	L	0.31065	0.9	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.14117	-1.0484	10	0.02654	T	1	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	547	P54762	EPHB1_HUMAN	V	547;108	ENSP00000381097:A547V;ENSP00000419574:A108V	ENSP00000381097:A547V	A	+	2	0	EPHB1	136367554	1.000000	0.71417	0.879000	0.34478	0.743000	0.42351	7.794000	0.85869	2.884000	0.98904	0.655000	0.94253	GCG		0.567	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		10	427	0	0	0	1	0	10	427					T	134884864	C	T	134884864	3	4	99	1	0	0	0	0	1	0	0	0	5192	768	27	1	1670	1	EPHB1	3	134884864	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	13062398	134884864	63137566	42	34638											
CLSTN2	64084	broad.mit.edu	37	chr3	140178467	140178467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgatcttcaagtttgacGgcaggcagggtgccaaagtc	13	8	2	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:140178467G>A	ENST00000458420.3	+	7	1268	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	360					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						CAAGTTTGACGGCAGGCAGGG	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1078-1080)Ggc>Agc		calsyntenin 2							80	69	72					3																	140178467		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178467G>A	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.1078G>A	3.37:g.140178467G>A	ENSP00000402460:p.Gly360Ser	HNSCC(16;0.037)				RP11-68L1.2_ENST00000503357.1_RNA	p.G360S	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			7	1268	+			360					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.1078G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305899	0.95629	.	.	ENSG00000158258	ENST00000458420	T	0.02863	4.13	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.18341	0.0440	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00174	-1.1956	10	0.62326	D	0.03	-35.2726	16.6974	0.85339	0.0:0.0:1.0:0.0	.	360	Q9H4D0	CSTN2_HUMAN	S	360	ENSP00000402460:G360S	ENSP00000402460:G360S	G	+	1	0	CLSTN2	141661157	1.000000	0.71417	0.959000	0.39883	0.923000	0.55619	9.869000	0.99810	2.552000	0.86080	0.655000	0.94253	GGC		0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		38	160	0	0	0	1	0	38	160					A	140178467	G	A	140178467	3	1	99	1	0	0	0	0	1	0	0	0	3571	1116	39	1	1104	1	CLSTN2	3	140178467	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	5293603	140178467	57843963	43	34639											
GRK7	131890	broad.mit.edu	37	chr3	141535562	141535562	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctttcttcacagagaaaaGtctgatgatcccaggaaaca	7	10	3	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:141535562G>T	ENST00000264952.2	+	4	1469	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	444	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGAGAAAAGTCTGATGATC	0.413																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1330-1332)aaG>aaT		G protein-coupled receptor kinase 7							65	67	66					3																	141535562		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535562G>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1332G>T	3.37:g.141535562G>T	ENSP00000264952:p.Lys444Asn						p.K444N	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			4	1469	+			444			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1332G>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281990	0.23392	.	.	ENSG00000114124	ENST00000264952	T	0.24350	1.86	5.4	-0.397	0.12423	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.206992	0.43260	D	0.000593	T	0.07458	0.0188	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17745	-1.0359	10	0.51188	T	0.08	-3.3201	0.3395	0.00331	0.2689:0.2271:0.2739:0.2301	.	444	Q8WTQ7	GRK7_HUMAN	N	444	ENSP00000264952:K444N	ENSP00000264952:K444N	K	+	3	2	GRK7	143018252	0.000000	0.05858	0.992000	0.48379	0.976000	0.68499	-0.314000	0.08092	-0.010000	0.14271	0.467000	0.42956	AAG		0.413	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		41	286	1	0	7.62715e-32	1	8.25923e-32	41	286					T	141535562	G	T	141535562	3	4	99	1	0	0	0	0	1	0	0	0	6824	1020	36	3	1346	3	GRK7	3	141535562	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1357095	141535562	56486868	44	34640											
P2RY12	64805	broad.mit.edu	37	chr3	151055628	151055628	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattggagtctcttcatttgGgtcaccaccatcctgttctt	7	12	4	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:151055628G>A	ENST00000302632.3	-	3	1305	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	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	336					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)	TCTTCATTTGGGTCACCACCA	0.368																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(1006-1008)Cca>Tca		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						124	122	123					3																	151055628		2203	4300	6503	SO:0001583	missense	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151055628G>A	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.1006C>T	3.37:g.151055628G>A	ENSP00000307259:p.Pro336Ser					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	p.P336S	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1305	-			336					D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	c.1006C>T	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519990	0.27211	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.59906	0.23	5.48	4.6	0.57074	.	0.944449	0.08953	N	0.869875	T	0.31734	0.0806	N	0.08118	0	0.09310	N	1	B	0.31026	0.304	B	0.23419	0.046	T	0.18808	-1.0325	10	0.15499	T	0.54	-2.2908	5.6313	0.17512	0.1514:0.0:0.6808:0.1678	.	336	Q9H244	P2Y12_HUMAN	S	336;239	ENSP00000307259:P336S	ENSP00000307259:P336S	P	-	1	0	P2RY12	152538318	0.161000	0.22892	0.037000	0.18230	0.021000	0.10359	0.759000	0.26461	1.435000	0.47434	-0.169000	0.13324	CCA		0.368	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			7	600	0	0	0	1	0	7	600					A	151055628	G	A	151055628	3	1	99	1	0	0	0	0	1	0	0	0	11391	1232	43	2	26	2	P2RY12	3	151055628	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	9520066	151055628	46966802	45	34641											
GPR149	344758	broad.mit.edu	37	chr3	154055947	154055947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggctggagttattttttgCccttctgcgcttacctcata	9	10	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr3:154055947C>T	ENST00000389740.2	-	4	1836	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	579					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTATTTTTTGCCCTTCTGCGC	0.458																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1735-1737)ggG>ggA		G protein-coupled receptor 149							143	143	143					3																	154055947		1848	4091	5939	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055947C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1737G>A	3.37:g.154055947C>T							p.G579G	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1836	-			579						Silent	SNP	ENST00000389740.2	37	c.1737G>A	CCDS43162.1																																																																																				0.458	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		6	797	0	0	0	1	0	6	797					T	154055947	C	T	154055947	2	4	99	1	0	0	0	0	0	0	0	1	6683	726	26	2		2	GPR149	3	154055947	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	3000319	154055947	43966483	46	34642											
GPR125	166647	broad.mit.edu	37	chr4	22390767	22390767	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcgctgctgcagttatgccGcaaacaatgatggggatacc	11	10	0	1	rs138178541	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:22390767G>A	ENST00000334304.5	-	18	2936	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	889					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.C889C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.C889C(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2665-2667)tgC>tgT		G protein-coupled receptor 125		G		2,4404	4.2+/-10.8	0,2,2201	200	204	203		2667	-1.1	0.7	4	dbSNP_134	203	0,8600		0,0,4300	no	coding-synonymous	GPR125	NM_145290.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		889/1322	22390767	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390767G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2667C>T	4.37:g.22390767G>A						GPR125_ENST00000282943.5_5'UTR	p.C889C	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2936	-		Breast(46;0.198)	889					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2667C>T	CCDS33964.1																																																																																				0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			6	988	0	0	0	1	0	6	988					A	22390767	G	A	22390767	2	1	99	1	0	0	0	0	0	0	0	1	6668	1079	38	1		1	GPR125	4	22390767	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		22390767	168763509	47	34643											
TBC1D1	23216	broad.mit.edu	37	chr4	38023260	38023260	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcacggtggccgcagtgcaGcagacagctaaggcgccagc	14	13	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:38023260G>T	ENST00000261439.4	+	6	1486	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q377H	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	377	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				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						CCGCAGTGCAGCAGACAGCTA	0.517																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(1129-1131)caG>caT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							34	33	34					4																	38023260		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38023260G>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1131G>T	4.37:g.38023260G>T	ENSP00000261439:p.Gln377His					TBC1D1_ENST00000508802.1_Missense_Mutation_p.Q377H	p.Q377H	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			6	1486	+			377			PID.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.1131G>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.32|17.32	3.358757|3.358757	0.61403|0.61403	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803	.|T;T;T	.|0.16196	.|2.36;2.36;2.36	5.76|5.76	4.01|4.01	0.46588|0.46588	.|Phosphotyrosine interaction domain (1);	.|0.112392	.|0.39985	.|N	.|0.001213	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D;B;D	.|0.89917	.|1.0;1.0;0.028;1.0	.|D;D;B;D	.|0.81914	.|0.99;0.995;0.018;0.99	T|T	0.02713|0.02713	-1.1120|-1.1120	5|10	.|0.40728	.|T	.|0.16	-24.9276|-24.9276	5.7525|5.7525	0.18154|0.18154	0.1938:0.0:0.6522:0.154|0.1938:0.0:0.6522:0.154	.|.	.|377;377;109;377	.|B9A6J6;E9PGH8;Q6PJJ8;Q86TI0	.|.;.;.;TBCD1_HUMAN	S|H	25|377;377;248	.|ENSP00000423651:Q377H;ENSP00000261439:Q377H;ENSP00000396877:Q248H	.|ENSP00000261439:Q377H	A|Q	+|+	1|3	0|2	TBC1D1|TBC1D1	37699655|37699655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	6.142000|6.142000	0.71750|0.71750	0.761000|0.761000	0.33130|0.33130	0.591000|0.591000	0.81541|0.81541	GCA|CAG		0.517	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		8	100	1	0	0.000274275	1	0.000277103	8	100					T	38023260	G	T	38023260	3	4	99	1	0	0	0	0	1	0	0	0	15649	962	34	3	1149	3	TBC1D1	4	38023260	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	15632493	38023260	153131016	48	34644											
SLAIN2	57606	broad.mit.edu	37	chr4	48379970	48379970	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctctatgagttacaccagtcCttacagtccaaatgccagta	6	12	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:48379970C>G	ENST00000264313.6	+	3	1014	c.596C>G	c.(595-597)cCt>cGt	p.P199R	SLAIN2_ENST00000512093.1_Missense_Mutation_p.P6R|SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	199					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						TACACCAGTCCTTACAGTCCA	0.413																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(595-597)cCt>cGt		SLAIN motif family, member 2							99	97	98					4																	48379970		1882	4107	5989	SO:0001583	missense	57606					centrosome		g.chr4:48379970C>G	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.596C>G	4.37:g.48379970C>G	ENSP00000264313:p.Pro199Arg					SLAIN2_ENST00000512093.1_Missense_Mutation_p.P6R|SLAIN2_ENST00000506375.1_3'UTR	p.P199R	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			3	1014	+			199					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.596C>G	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377180	0.61735	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.76	5.76	0.90799	.	0.207938	0.42420	D	0.000708	T	0.52613	0.1745	L	0.29908	0.895	0.46131	D	0.998881	B	0.34200	0.441	B	0.36030	0.216	T	0.55866	-0.8073	9	0.87932	D	0	-3.4428	19.9601	0.97247	0.0:1.0:0.0:0.0	.	199	Q9P270	SLAI2_HUMAN	R	199;6	.	ENSP00000264313:P199R	P	+	2	0	SLAIN2	48074727	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	5.168000	0.64978	2.720000	0.93068	0.655000	0.94253	CCT		0.413	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		132	348	0	0	0	1	0	132	348					G	48379970	C	G	48379970	3	3	99	1	0	0	0	0	1	0	0	0	14416	681	24	5	606	5	SLAIN2	4	48379970	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	10356710	48379970	142774306	49	34645											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				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						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	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.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			9	244						9	244	---	---	---	---	-	81123252	CAG	-	81123250	7	5	99	1	0	1	0	1	0	0	0	0	12509	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-IB-AAUU-01A-11D-A377-08	32743280	81123250	110031026	50	34646											
ZFP42	132625	broad.mit.edu	37	chr4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaatgtgggaaagcgttcGttgagagctcaaaactaaag	13	6	1	1	rs200711766	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					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)		GAAAGCGTTCGTTGAGAGCTC	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18767	0.0		0.001	False		,,,				2504	0.0					ENST00000326866.4																			0				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						c.(679-681)Gtt>Att		ZFP42 zinc finger protein							118	123	122					4																	188924640		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924640G>A	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.679G>A	4.37:g.188924640G>A	ENSP00000317686:p.Val227Ile					ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		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)	4	1087	+		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)	227					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.679G>A	CCDS3849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.42	1.345682	0.24426	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.41400	1.0;1.0	4.39	-8.78	0.00824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.214960	0.06385	N	0.715986	T	0.16171	0.0389	N	0.16478	0.41	0.09310	N	1	B	0.27316	0.175	B	0.14023	0.01	T	0.08953	-1.0697	10	0.17832	T	0.49	.	1.3926	0.02253	0.1903:0.3391:0.2374:0.2333	.	227	Q96MM3	ZFP42_HUMAN	I	227	ENSP00000317686:V227I;ENSP00000424662:V227I	ENSP00000317686:V227I	V	+	1	0	ZFP42	189161634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	-3.355000	0.00180	-0.892000	0.02923	GTT		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		55	282	0	0	0	1	0	55	282					A	188924640	G	A	188924640	3	1	99	1	0	0	0	0	1	0	0	0	17703	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	107801390	188924640	2229636	51	34647											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	565						10	565	---	---	---	---	-	32090061	TCC	-	32090059	7	5	99	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-IB-AAUU-01A-11D-A377-08		32090059	148825201	52	34648											
HEATR7B2	133558	broad.mit.edu	37	chr5	41065559	41065559	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaagagacaccaaaaCctcaccagctagcattctga	7	13	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:41065559C>A	ENST00000399564.4	-	4	685	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	79																	GACACCAAAACCTCACCAGCT	0.418																																						ENST00000399564.4																			0											c.(235-237)Gtt>Ttt		maestro heat-like repeat family member 2B							94	87	89					5																	41065559		1912	4119	6031	SO:0001583	missense	133558							g.chr5:41065559C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.235G>T	5.37:g.41065559C>A	ENSP00000382476:p.Val79Phe						p.V79F	NM_173489.4	NP_775760.3					4	685	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.235G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507698	0.64410	.	.	ENSG00000171495	ENST00000399564	T	0.06449	3.3	5.86	3.03	0.35002	Armadillo-type fold (1);	0.393117	0.21777	N	0.069280	T	0.12860	0.0312	M	0.65498	2.005	0.36710	D	0.880611	D	0.53312	0.959	P	0.51135	0.66	T	0.05370	-1.0889	10	0.72032	D	0.01	.	8.2116	0.31486	0.0:0.6182:0.301:0.0808	.	79	Q7Z745	HTRB2_HUMAN	F	79	ENSP00000382476:V79F	ENSP00000382476:V79F	V	-	1	0	HEATR7B2	41101316	0.849000	0.29639	0.836000	0.33094	0.998000	0.95712	0.571000	0.23669	0.435000	0.26365	0.650000	0.86243	GTT		0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		23	237	1	0	2.12542e-12	1	2.22771e-12	23	237					A	41065559	C	A	41065559	3	1	99	1	0	0	0	0	1	0	0	0	7065	507	18	3	4678	3	HEATR7B2	5	41065559	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	8975500	41065559	139849701	53	34649											
ITGA2	3673	broad.mit.edu	37	chr5	52356793	52356793	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgctggtgctcctcggGcaaattataccggccagata	11	10	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:52356793G>A	ENST00000296585.5	+	12	1518	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	459					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)				TGCTCCTCGGGCAAATTATAC	0.443																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1375-1377)Gca>Aca		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							111	105	107					5																	52356793		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52356793G>A		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.1375G>A	5.37:g.52356793G>A	ENSP00000296585:p.Ala459Thr						p.A459T	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			12	1518	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	459					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.1375G>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297090	0.60086	.	.	ENSG00000164171	ENST00000296585	T	0.11169	2.8	5.77	3.84	0.44239	.	0.165528	0.56097	D	0.000037	T	0.07548	0.0190	L	0.46885	1.475	0.38632	D	0.951406	B;P	0.36412	0.104;0.552	B;B	0.27076	0.04;0.076	T	0.11591	-1.0581	10	0.37606	T	0.19	.	5.5765	0.17227	0.1627:0.0:0.5942:0.2431	.	459;459	E7ESP4;P17301	.;ITA2_HUMAN	T	459	ENSP00000296585:A459T	ENSP00000296585:A459T	A	+	1	0	ITGA2	52392550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.461000	0.53035	2.720000	0.93068	0.650000	0.86243	GCA		0.443	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		5	406	0	0	0	1	0	5	406					A	52356793	G	A	52356793	3	1	99	1	0	0	0	0	1	0	0	0	7905	1203	42	2	1421	2	ITGA2	5	52356793	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	11291234	52356793	128558467	54	34650											
TNPO1	3842	broad.mit.edu	37	chr5	72179007	72179007	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggaattgaagaggaagaTgatgatgatgatgaaattga	14	0	0	9	rs1057846		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:72179007T>A	ENST00000337273.5	+	11	1524	c.1098T>A	c.(1096-1098)gaT>gaA	p.D366E	TNPO1_ENST00000523768.1_Missense_Mutation_p.D316E|TNPO1_ENST00000454282.1_Missense_Mutation_p.D316E|TNPO1_ENST00000506351.2_Missense_Mutation_p.D358E	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	366	Asp/Glu-rich (acidic).				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)		AAGAGGAAgatgatgatgatg	0.408																																						ENST00000337273.5																			0				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						c.(1096-1098)gaT>gaA		transportin 1							73	64	67					5																	72179007		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72179007T>A	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.1098T>A	5.37:g.72179007T>A	ENSP00000336712:p.Asp366Glu					TNPO1_ENST00000506351.2_Missense_Mutation_p.D358E|TNPO1_ENST00000454282.1_Missense_Mutation_p.D316E|TNPO1_ENST00000523768.1_Missense_Mutation_p.D316E	p.D366E	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	11	1524	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	366			Asp/Glu-rich (acidic).		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1098T>A	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104600	0.37145	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.48	-3.71	0.04424	Armadillo-like helical (1);Armadillo-type fold (1);	0.256148	0.42682	N	0.000679	T	0.27697	0.0681	N	0.05619	-0.005	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.02339	-1.1174	10	0.18276	T	0.48	-3.9919	2.2191	0.03968	0.1032:0.1988:0.3174:0.3807	.	316;366	Q92973-3;Q92973	.;TNPO1_HUMAN	E	366;316;316;358	ENSP00000336712:D366E;ENSP00000398524:D316E;ENSP00000428899:D316E;ENSP00000425118:D358E	ENSP00000336712:D366E	D	+	3	2	TNPO1	72214763	0.000000	0.05858	0.990000	0.47175	0.997000	0.91878	-2.084000	0.01363	-0.382000	0.07870	0.477000	0.44152	GAT		0.408	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		4	208	0	0	0	1	0	4	208					A	72179007	T	A	72179007	3	1	99	1	0	0	0	0	1	0	0	0	16387	1461	51	5	1140	5	TNPO1	5	72179007	Missense_Mutation	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08	19822214	72179007	108736253	55	34651											
GRM6	2916	broad.mit.edu	37	chr5	178413350	178413350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgaggaaggtgatggcGtagatgaggaagatgccggt	17	5	0	5	rs200430682	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr5:178413350G>A	ENST00000517717.1	-	9	1943	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.Y635Y			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	635					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)		AGGTGATGGCGTAGATGAGGA	0.672													G|||	2	0.000399361	0.0	0.0	5008	,	,		18497	0.001		0.0	False		,,,				2504	0.001					ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1903-1905)taC>taT		glutamate receptor, metabotropic 6		G		0,4406		0,0,2203	52	47	49		1905	-0.2	1	5		49	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GRM6	NM_000843.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		635/878	178413350	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413350G>A	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.1905C>T	5.37:g.178413350G>A						GRM6_ENST00000517717.1_Silent_p.Y635Y|RP11-281O15.4_ENST00000519491.1_RNA	p.Y635Y	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2083	-	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)	635						Silent	SNP	ENST00000517717.1	37	c.1905C>T	CCDS4442.1																																																																																				0.672	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			54	124	0	0	0	1	0	54	124					A	178413350	G	A	178413350	2	1	99	1	0	0	0	0	0	0	0	1	6831	1140	40	1		1	GRM6	5	178413350	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	106234343	178413350	2501910	56	34652											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834834	27834845	+	In_Frame_Del	DEL	CTTCTTCGGAGT	CTTCTTCGGAGT	-													gccgccgcgggcttcttcgcCttcttcggagtcttcttcac					rs143393068|rs139479440|rs545007006	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:27834834_27834845delCTTCTTCGGAGT	ENST00000331442.3	-	1	514_525	c.463_474delACTCCGAAGAAG	c.(463-474)actccgaagaagdel	p.TPKK155del		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	155					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						GCTTCTTCGCCTTCTTCGGAGTCTTCTTCACT	0.599														3	0.000599042	0.0	0.0014	5008	,	,		17347	0.0		0.0	False		,,,				2504	0.002					ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(463-474)del		histone cluster 1, H1b																																				SO:0001651	inframe_deletion	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834834_27834845delCTTCTTCGGAGT	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.463_474delACTCCGAAGAAG	6.37:g.27834834_27834845delCTTCTTCGGAGT	ENSP00000330074:p.Thr155_Lys158del						p.TPKK155del	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	514_525	-			155					Q14529|Q3MJ42	In_Frame_Del	DEL	ENST00000331442.3	37	c.463_474delACTCCGAAGAAG	CCDS4635.1																																																																																				0.599	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		76	919						76	919	---	---	---	---	-	27834845	CTTCTTCGGAGT	-	27834834	7	5	99	1	0	1	0	1	0	0	0	0	7153	680	24	0	210	0	HIST1H1B	6	27834834	In_Frame_Del	DEL	CTTCTTCGGAGT	TCGA-IB-AAUU-01A-11D-A377-08		27834834	143280233	57	34653											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		7	258						7	258	---	---	---	---	-	30653496	TGC	-	30653494	7	5	99	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-IB-AAUU-01A-11D-A377-08	2818660	30653494	140461573	58	34654											
TTBK1	84630	broad.mit.edu	37	chr6	43222815	43222815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccgggtttcgaggaaCggttcgctatgcctcagtca	14	10	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:43222815C>T	ENST00000259750.4	+	7	688	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TTBK1_ENST00000304139.5_Missense_Mutation_p.T151M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTTCGAGGAACGGTTCGCTAT	0.617																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(604-606)aCg>aTg		tau tubulin kinase 1							143	108	120					6																	43222815		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43222815C>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.605C>T	6.37:g.43222815C>T	ENSP00000259750:p.Thr202Met					TTBK1_ENST00000304139.5_Missense_Mutation_p.T151M	p.T202M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		7	688	+			202			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.605C>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712948	0.89112	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.76839	-1.05	4.83	4.83	0.62350	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	0.92756	0.7697	H	0.99336	4.52	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.95848	0.8872	10	0.87932	D	0	.	16.6948	0.85332	0.0:1.0:0.0:0.0	.	202	Q5TCY1	TTBK1_HUMAN	M	151;202;151	ENSP00000259750:T202M	ENSP00000259750:T202M	T	+	2	0	TTBK1	43330793	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.413000	0.80104	2.242000	0.73789	0.655000	0.94253	ACG		0.617	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			5	213	0	0	0	1	0	5	213					T	43222815	C	T	43222815	3	4	99	1	0	0	0	0	1	0	0	0	16730	536	19	1	627	1	TTBK1	6	43222815	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	12569321	43222815	127892252	59	34655											
C6orf223	221416	broad.mit.edu	37	chr6	43970503	43970504	+	In_Frame_Ins	INS	-	-	GCGGCG													ctcgcgggccggtagagcgcINSgcggcggcggcggcggcggc					rs571541469		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:43970503_43970504insGCGGCG	ENST00000336600.5	+	4	389_390	c.369_370insGCGGCG	c.(370-372)gcg>GCGGCGgcg	p.124_124A>AAA	C6orf223_ENST00000442114.2_In_Frame_Ins_p.104_104A>AAA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	124	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777																																						ENST00000336600.5																			0				central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6						c.(367-372)cgcggc>cgGCGGCGcggc		chromosome 6 open reading frame 223																																				SO:0001652	inframe_insertion	221416							g.chr6:43970503_43970504insGCGGCG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.388_393dupGCGGCG	6.37:g.43970504_43970509dupGCGGCG	ENSP00000426159:p.AlaAla132dup					RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR	p.122_123insRR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	389_390	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		122					E9PB59|Q8N575	In_Frame_Ins	INS	ENST00000336600.5	37	c.369_370insGCGGCG	CCDS34459.1																																																																																				0.777	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		7	70						7	70	---	---	---	---	GCGGCG	43970504	-	GCGGCG	43970503	7	5	99	1	0	1	1	0	0	0	0	0	2364	755	27	0	426	0	C6orf223	6	43970503	In_Frame_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	747688	43970503	127144564	60	34656											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	8	2	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		8	609	0	0	0	1	0	8	609					T	108214765	A	T	108214765	4	4	99	1	0	0	0	0	0	1	0	0	14055	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	64244262	108214765	62900302	61	34657											
ABCB5	340273	broad.mit.edu	37	chr7	20793112	20793112	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggccacttcagccctcGataatgacagtgagaaggta	11	9	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:20793112G>A	ENST00000404938.2	+	27	4211	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1187	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGCCCTCGATAATGACAG	0.393																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3559-3561)Gat>Aat		ATP-binding cassette, sub-family B (MDR/TAP), member 5							93	94	93					7																	20793112		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20793112G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3559G>A	7.37:g.20793112G>A	ENSP00000384881:p.Asp1187Asn					ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	p.D1187N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			27	4211	+			742					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.3559G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614824	0.87359	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.95756	-3.8;-3.8	5.16	4.26	0.50523	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.56097	D	0.000024	D	0.98169	0.9395	H	0.96365	3.81	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.913	D	0.98395	1.0565	10	0.87932	D	0	.	13.0851	0.59135	0.0806:0.0:0.9194:0.0	.	1187;742	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	N	1187;742	ENSP00000384881:D1187N;ENSP00000258738:D742N	ENSP00000258738:D742N	D	+	1	0	ABCB5	20759637	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.641000	0.83368	2.683000	0.91414	0.555000	0.69702	GAT		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		64	393	0	0	0	1	0	64	393					A	20793112	G	A	20793112	3	1	99	1	0	0	0	0	1	0	0	0	44	1058	37	1	3702	1	ABCB5	7	20793112	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		20793112	138345551	62	34658											
CPVL	54504	broad.mit.edu	37	chr7	29132283	29132283	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcattgactgcatatccGtgggtatcatcagtaaaact	7	10	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:29132283G>A	ENST00000409850.1	-	10	1144	c.498C>T	c.(496-498)caC>caT	p.H166H	CPVL_ENST00000396276.3_Silent_p.H166H|CPVL_ENST00000265394.5_Silent_p.H166H			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	166						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						CTGCATATCCGTGGGTATCAT	0.443																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(496-498)caC>caT		carboxypeptidase, vitellogenic-like							92	76	81					7																	29132283		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29132283G>A	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.498C>T	7.37:g.29132283G>A						CPVL_ENST00000396276.3_Silent_p.H166H|CPVL_ENST00000265394.5_Silent_p.H166H	p.H166H			Q9H3G5	CPVL_HUMAN			10	1144	-			166					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.498C>T	CCDS5419.1																																																																																				0.443	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		31	218	0	0	0	1	0	31	218					A	29132283	G	A	29132283	2	1	99	1	0	0	0	0	0	0	0	1	3844	1136	40	1		1	CPVL	7	29132283	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	8339171	29132283	130006380	63	34659											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C													cgccctgggccccggcgctgINSccccctttgcccccctgcag							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		12	67						12	67	---	---	---	---	C	44805119	-	C	44805118	7	5	99	1	0	1	1	0	0	0	0	0	17750	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	15672835	44805118	114333545	64	34660											
WBSCR27	155368	broad.mit.edu	37	chr7	73254452	73254453	+	Splice_Site	DEL	TG	TG	-													agcaccgcgtcgaaggtcccTgtgtgtgtgtgggggggggt					rs375025208		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:73254452_73254453delTG	ENST00000297873.4	-	5	438		c.e5-2			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CGAAGGTCCCTGTGTGTGTGTG	0.604																																						ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.e5-2		Williams Beuren syndrome chromosome region 27																																				SO:0001630	splice_region_variant	155368							g.chr7:73254452_73254453delTG	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.389-2CA>-	7.37:g.73254462_73254463delTG								NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			5	438	-		Lung NSC(55;0.159)							Splice_Site	DEL	ENST00000297873.4	37		CCDS5561.1																																																																																				0.604	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559	Intron	7	382						7	382	---	---	---	---	-	73254453	TG	-	73254452	8	5	99	1	0	1	0	1	0	0	1	0	17320	1594	55	0	358	0	WBSCR27	7	73254452	Splice_Site	DEL	TG	TCGA-IB-AAUU-01A-11D-A377-08	28449334	73254452	85884211	65	34661											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	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	399					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)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	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.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			10	340						10	340	---	---	---	---	-	100028825	CCA	-	100028823	7	5	99	1	0	1	0	1	0	0	0	0	9518	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-IB-AAUU-01A-11D-A377-08	26774371	100028823	59109840	66	34662											
AGFG2	3268	broad.mit.edu	37	chr7	100159920	100159921	+	Frame_Shift_Ins	INS	-	-	C													atttggtgccactcccctggINScacccgccagtcagccaaac					rs34537355		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:100159920_100159921insC	ENST00000300176.4	+	7	1038_1039	c.916_917insC	c.(916-918)gcafs	p.A306fs	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	306					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTCCCCTGGCACCCGCCAGT	0.639																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(916-918)accfs		ArfGAP with FG repeats 2																																				SO:0001589	frameshift_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100159920_100159921insC	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"ADP-ribosylation factor GTPase activating proteins"	5177	protein-coding gene	gene with protein product		604019	"HIV-1 Rev binding protein-like"	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.917dupC	7.37:g.100159921_100159921dupC	ENSP00000300176:p.Ala306fs					AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	p.T306fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			7	1038_1039	+			306					O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	c.916_917insC	CCDS5697.1																																																																																				0.639	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		9	412						9	412	---	---	---	---	C	100159921	-	C	100159920	7	5	99	1	0	1	1	0	0	0	0	0	381	1203	42	0	942	0	AGFG2	7	100159920	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	131097	100159920	58978743	67	34663											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	281	0	0	0	1	0	6	281					G	114269973	A	G	114269973	2	3	99	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	14110053	114269973	44868690	68	34664											
DGKI	9162	broad.mit.edu	37	chr7	137263014	137263014	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atgaaataaaatgtatacctAcccctgcatagaacatttta	4	8	0	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr7:137263014A>C	ENST00000288490.5	-	16	1699		c.e16+1		DGKI_ENST00000446122.1_Splice_Site|DGKI_ENST00000424189.2_Splice_Site|DGKI_ENST00000453654.2_Splice_Site	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota						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						ATGTATACCTACCCCTGCATA	0.313																																						ENST00000453654.1																			0				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						c.e16+1		diacylglycerol kinase, iota							58	59	59					7																	137263014		2202	4298	6500	SO:0001630	splice_region_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137263014A>C	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.1698+1T>G	7.37:g.137263014A>C						DGKI_ENST00000424189.2_Splice_Site|DGKI_ENST00000288490.5_Splice_Site|DGKI_ENST00000446122.1_Splice_Site				O75912	DGKI_HUMAN			16	1338	-								A4D1Q9|Q9NZ49	Splice_Site	SNP	ENST00000288490.5	37		CCDS5845.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262490	0.80358	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9475	0.71044	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGKI	136913554	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.096000	0.94182	2.080000	0.62538	0.379000	0.24179	.		0.313	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	Intron	23	212	0	0	0	1	0	23	212					C	137263014	A	C	137263014	5	2	99	1	0	0	0	0	0	0	1	0	4487	405	14	4	1573	4	DGKI	7	137263014	Splice_Site	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	22993041	137263014	21875649	69	34665											
PRSS55	203074	broad.mit.edu	37	chr8	10383123	10383123	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttctcagtgttgctgctcCtgtccctggtcacgggaact	11	12	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:10383123C>T	ENST00000328655.3	+	1	68	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L10L	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	10						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						GTTGCTGCTCCTGTCCCTGGT	0.672																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(28-30)Ctg>Ttg		protease, serine, 55							101	81	88					8																	10383123		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10383123C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.28C>T	8.37:g.10383123C>T						PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L10L	p.L10L	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			1	68	+			10					E5RJX5	Silent	SNP	ENST00000328655.3	37	c.28C>T	CCDS5976.1																																																																																				0.672	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		99	161	0	0	0	1	0	99	161					T	10383123	C	T	10383123	2	4	99	1	0	0	0	0	0	0	0	1	12681	680	24	2		2	PRSS55	8	10383123	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		10383123	135980899	70	34666											
CDCA2	157313	broad.mit.edu	37	chr8	25317954	25317954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactcctcagaagcatgCcgaattacctcctaatcctt	6	13	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:25317954C>T	ENST00000330560.3	+	3	593	c.116C>T	c.(115-117)gCc>gTc	p.A39V	KCTD9_ENST00000221200.4_5'Flank|KCTD9_ENST00000518067.1_5'Flank|CDCA2_ENST00000380665.3_Missense_Mutation_p.A24V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	39					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A39V(1)		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)		CAGAAGCATGCCGAATTACCT	0.428																																						ENST00000330560.3																			1	Substitution - Missense(1)	p.A39V(1)	kidney(1)	breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(115-117)gCc>gTc		cell division cycle associated 2							237	231	233					8																	25317954		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25317954C>T	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.116C>T	8.37:g.25317954C>T	ENSP00000328228:p.Ala39Val					CDCA2_ENST00000380665.3_Missense_Mutation_p.A24V	p.A39V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	3	593	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	39					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.116C>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221746	0.58560	.	.	ENSG00000184661	ENST00000330560;ENST00000380665;ENST00000435898	T;T	0.36340	1.26;1.26	5.19	4.32	0.51571	.	0.306968	0.23768	N	0.044756	T	0.44414	0.1292	L	0.53249	1.67	0.09310	N	1	P;P;P	0.50272	0.933;0.933;0.933	P;P;P	0.51324	0.461;0.666;0.666	T	0.35251	-0.9796	10	0.72032	D	0.01	-8.3448	11.8981	0.52667	0.0:0.8243:0.1756:0.0	.	39;24;39	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	V	39;24;39	ENSP00000328228:A39V;ENSP00000370040:A24V	ENSP00000328228:A39V	A	+	2	0	CDCA2	25373871	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.603000	0.24149	1.165000	0.42670	-0.273000	0.10243	GCC		0.428	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		5	619	0	0	0	1	0	5	619					T	25317954	C	T	25317954	3	4	99	1	0	0	0	0	1	0	0	0	3095	739	26	2	122	2	CDCA2	8	25317954	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	14934831	25317954	121046068	71	34667											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728933	37728933	+	Frame_Shift_Del	DEL	T	T	-													gcggagccctctgctgtggcTtttttttgagattctgctgt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:37728933delT	ENST00000330843.4	-	4	3399	c.3387delA	c.(3385-3387)aaafs	p.K1129fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1129					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)			CTGCTGTGGCTTTTTTTTGAG	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(3385-3387)aafs		RAB11 family interacting protein 1 (class I)							134	143	140					8																	37728933		2203	4300	6503	SO:0001589	frameshift_variant	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37728933delT	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.3387delA	8.37:g.37728933delT	ENSP00000331342:p.Lys1129fs		OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	872	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	p.K1129fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	3399	-		Lung NSC(58;0.118)|all_lung(54;0.195)	1129					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Frame_Shift_Del	DEL	ENST00000330843.4	37	c.3387delA	CCDS34882.1																																																																																				0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		7	697						7	697	---	---	---	---	-	37728933	T	-	37728933	7	5	99	1	0	1	0	1	0	0	0	0	12943	1606	56	0	476	0	RAB11FIP1	8	37728933	Frame_Shift_Del	DEL	T	TCGA-IB-AAUU-01A-11D-A377-08	12410979	37728933	108635089	72	34668											
WHSC1L1	54904	broad.mit.edu	37	chr8	38205614	38205614	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcctcctgacggatgttggCggagtcaatgagttgaggtg	15	7	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:38205614C>T	ENST00000317025.8	-	2	593	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A26T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A26T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A26T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	26					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)			CGGATGTTGGCGGAGTCAATG	0.453			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(76-78)Gcc>Acc		Wolf-Hirschhorn syndrome candidate 1-like 1							170	151	158					8																	38205614		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205614C>T	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.76G>A	8.37:g.38205614C>T	ENSP00000313983:p.Ala26Thr					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A26T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A26T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A26T	p.A26T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	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)		2	593	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	26					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.76G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358909	0.95854	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.96651	-4.08;-4.02;-4.02;-0.76;0.39	5.56	5.56	0.83823	.	0.000000	0.47852	U	0.000201	D	0.97420	0.9156	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.99;0.996;0.999;0.99	D	0.98006	1.0363	10	0.87932	D	0	.	19.8909	0.96929	0.0:1.0:0.0:0.0	.	26;26;26;26	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	T	26	ENSP00000393284:A26T;ENSP00000313983:A26T;ENSP00000434730:A26T;ENSP00000313410:A26T;ENSP00000435422:A26T	ENSP00000313410:A26T	A	-	1	0	WHSC1L1	38324771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.745000	0.68672	2.765000	0.95021	0.655000	0.94253	GCC		0.453	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		5	424	0	0	0	1	0	5	424					T	38205614	C	T	38205614	3	4	99	1	0	0	0	0	1	0	0	0	17417	768	27	1	4416	1	WHSC1L1	8	38205614	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	476681	38205614	108158408	73	34669											
ADAM2	2515	broad.mit.edu	37	chr8	39646232	39646232	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaaaactttttgagcgacaaCagttgtatcagaccccatat	7	9	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:39646232C>A	ENST00000265708.4	-	8	701	c.598G>T	c.(598-600)Gtt>Ttt	p.V200F	ADAM2_ENST00000347580.4_Missense_Mutation_p.V181F|ADAM2_ENST00000521880.1_Missense_Mutation_p.V200F|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	200	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGAGCGACAACAGTTGTATCA	0.274																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(598-600)Gtt>Ttt		ADAM metallopeptidase domain 2							92	85	88					8																	39646232		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39646232C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.598G>T	8.37:g.39646232C>A	ENSP00000265708:p.Val200Phe					ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.V200F|ADAM2_ENST00000347580.4_Missense_Mutation_p.V181F	p.V200F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	8	701	-		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)	200			Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.598G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653517	0.29425	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.64438	-0.1;-0.1;-0.1	4.7	-5.11	0.02901	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.72645	0.3486	M	0.71036	2.16	0.09310	N	1	P;P;P	0.41947	0.766;0.723;0.766	P;P;P	0.60609	0.877;0.73;0.824	T	0.70008	-0.4990	8	.	.	.	.	12.6789	0.56910	0.0:0.1977:0.0:0.8023	.	200;181;200	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	F	181;200;200	ENSP00000343854:V181F;ENSP00000265708:V200F;ENSP00000429352:V200F	.	V	-	1	0	ADAM2	39765389	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.932000	0.00688	-0.905000	0.03871	0.650000	0.86243	GTT		0.274	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		40	479	1	0	4.44401e-20	1	4.75971e-20	40	479					A	39646232	C	A	39646232	3	1	99	1	0	0	0	0	1	0	0	0	241	478	17	3	1661	3	ADAM2	8	39646232	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	1440618	39646232	106717790	74	34670											
ZMAT4	79698	broad.mit.edu	37	chr8	40532370	40532370	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acagagcccacagtatctgtCtgaatctcttctttgatagg	8	10	4	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:40532370C>G	ENST00000297737.6	-	5	576	c.430G>C	c.(430-432)Gac>Cac	p.D144H	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	144						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CAGTATCTGTCTGAATCTCTT	0.507																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(430-432)Gac>Cac		zinc finger, matrin-type 4							188	187	188					8																	40532370		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532370C>G	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.430G>C	8.37:g.40532370C>G	ENSP00000297737:p.Asp144His					ZMAT4_ENST00000315769.7_Intron	p.D144H	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	576	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	144					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.430G>C	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608201	0.87258	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.42513	0.97;0.97	5.88	5.88	0.94601	Zinc finger, U1-type (1);	0.260803	0.46442	D	0.000283	T	0.34803	0.0910	N	0.24115	0.695	0.58432	D	0.999996	P	0.49961	0.93	P	0.44732	0.459	T	0.03773	-1.1005	10	0.15066	T	0.55	-30.1803	18.7792	0.91925	0.0:1.0:0.0:0.0	.	144	Q9H898	ZMAT4_HUMAN	H	144	ENSP00000297737:D144H;ENSP00000428423:D144H	ENSP00000297737:D144H	D	-	1	0	ZMAT4	40651527	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	7.376000	0.79658	2.782000	0.95742	0.557000	0.71058	GAC		0.507	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		228	2976	0	0	0	1	0	228	2976					G	40532370	C	G	40532370	3	3	99	1	0	0	0	0	1	0	0	0	17747	913	32	5	271	5	ZMAT4	8	40532370	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	886138	40532370	105831652	75	34671											
CHMP4C	92421	broad.mit.edu	37	chr8	82670525	82670525	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtccactgcacgtcgatcccGagcaggtctgttacccagct	10	15	1	0	rs562691343		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:82670525G>A	ENST00000297265.4	+	4	825	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	211	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						CGTCGATCCCGAGCAGGTCTG	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18270	0.0		0.0	False		,,,				2504	0.0					ENST00000297265.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						c.(631-633)cGa>cAa		charged multivesicular body protein 4C							88	82	85					8																	82670525		2203	4300	6503	SO:0001583	missense	92421				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr8:82670525G>A	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.632G>A	8.37:g.82670525G>A	ENSP00000297265:p.Arg211Gln						p.R211Q	NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN			4	825	+			211			Intramolecular interaction with N- terminus (By similarity).		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	c.632G>A	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727483	0.30593	.	.	ENSG00000164695	ENST00000297265	T	0.52526	0.66	6.17	5.3	0.74995	.	0.268617	0.28908	N	0.013750	T	0.25232	0.0613	N	0.08118	0	0.43334	D	0.995379	B	0.29037	0.231	B	0.17722	0.019	T	0.10497	-1.0627	10	0.15499	T	0.54	-2.4061	13.2245	0.59907	0.0759:0.0:0.9241:0.0	.	211	Q96CF2	CHM4C_HUMAN	Q	211	ENSP00000297265:R211Q	ENSP00000297265:R211Q	R	+	2	0	CHMP4C	82833080	0.991000	0.36638	0.925000	0.36789	0.351000	0.29236	1.321000	0.33678	1.633000	0.50488	0.655000	0.94253	CGA		0.458	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		56	242	0	0	0	1	0	56	242					A	82670525	G	A	82670525	3	1	99	1	0	0	0	0	1	0	0	0	3367	1058	37	1	646	1	CHMP4C	8	82670525	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	42138155	82670525	63693497	76	34672											
RUNX1T1	862	broad.mit.edu	37	chr8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-													ctgctgctactgccgccaccTttttttaagtcctcggcgtc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	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)	404					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)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96	103	101					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	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.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		7	662						7	662	---	---	---	---	-	92998419	T	-	92998419	7	5	99	1	0	1	0	1	0	0	0	0	13797	1606	56	0	618	0	RUNX1T1	8	92998419	Frame_Shift_Del	DEL	T	TCGA-IB-AAUU-01A-11D-A377-08	10327894	92998419	53365603	77	34673											
OXR1	55074	broad.mit.edu	37	chr8	107704955	107704955	+	Splice_Site	DEL	G	G	-													tcctttaaaaaaaaaaaaaaGaatcctgatgtccatccaac							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000497705.1_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34	37	36					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	7	272						7	272	---	---	---	---	-	107704955	G	-	107704955	8	5	99	1	0	1	0	1	0	0	1	0	11376	956	33	0	750	0	OXR1	8	107704955	Splice_Site	DEL	G	TCGA-IB-AAUU-01A-11D-A377-08	14706536	107704955	38659067	78	34674											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5535034	5535034	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcctgggactacaagtacctGactctgaaagtcaaaggtga	11	9	2	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:5535034G>A	ENST00000397747.3	+	3	593	c.345G>A	c.(343-345)ctG>ctA	p.L115L	PDCD1LG2_ENST00000397745.2_Silent_p.L115L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	115	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		ACAAGTACCTGACTCTGAAAG	0.483																																						ENST00000397747.3																			0				large_intestine(2)|lung(4)|prostate(2)	8						c.(343-345)ctG>ctA		programmed cell death 1 ligand 2							49	44	46					9																	5535034		2203	4300	6503	SO:0001819	synonymous_variant	80380				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5535034G>A	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	18731	protein-coding gene	gene with protein product	"B7 dendritic cell molecule"	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.345G>A	9.37:g.5535034G>A						PDCD1LG2_ENST00000397745.2_Silent_p.L115L	p.L115L	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	3	593	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	115			Ig-like V-type.		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Silent	SNP	ENST00000397747.3	37	c.345G>A	CCDS6465.1																																																																																				0.483	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		9	76	0	0	0	1	0	9	76					A	5535034	G	A	5535034	2	1	99	1	0	0	0	0	0	0	0	1	11660	1277	45	2		2	PDCD1LG2	9	5535034	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		5535034	135678397	79	34675											
TGFBR1	7046	broad.mit.edu	37	chr9	101907091	101907091	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	atggaacttgctgtattgcaGacttaggactggcagtaaga	12	6	0	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:101907091G>C	ENST00000374994.4	+	6	1168	c.1051G>C	c.(1051-1053)Gac>Cac	p.D351H	TGFBR1_ENST00000550253.1_Missense_Mutation_p.D282H|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D274H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D355H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in LDS1). {ECO:0000269|PubMed:19883511}.		activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|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)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTGTATTGCAGACTTAGGACT	0.358																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(1051-1053)Gac>Cac		transforming growth factor, beta receptor 1							134	128	130					9																	101907091		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101907091G>C		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1051G>C	9.37:g.101907091G>C	ENSP00000364133:p.Asp351His					TGFBR1_ENST00000550253.1_Missense_Mutation_p.D282H|TGFBR1_ENST00000374990.2_Missense_Mutation_p.D274H|TGFBR1_ENST00000552516.1_Missense_Mutation_p.D355H	p.D351H	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			6	1168	+		Acute lymphoblastic leukemia(62;0.0559)	351			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1051G>C	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867703	0.91587	.	.	ENSG00000106799	ENST00000374994;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042450	0.85682	N	0.000000	D	0.98726	0.9572	H	0.99964	5.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	274;351	P36897-3;P36897	.;TGFR1_HUMAN	H	351;274;355;282	ENSP00000364133:D351H;ENSP00000364129:D274H;ENSP00000447297:D355H;ENSP00000450052:D282H	ENSP00000364129:D274H	D	+	1	0	TGFBR1	100946912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.854000	0.98071	0.655000	0.94253	GAC		0.358	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			7	319	0	0	0	1	0	7	319					C	101907091	G	C	101907091	3	2	99	1	0	0	0	0	1	0	0	0	15873	942	33	5	1073	5	TGFBR1	9	101907091	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	96372057	101907091	39306340	80	34676											
MUSK	4593	broad.mit.edu	37	chr9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccatgtaccagaggatgCcgctccttctgaaccccaaa	7	16	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:113547892C>T	ENST00000374448.4	+	13	1806	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000416899.2_Missense_Mutation_p.P550S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1648-1650)Ccg>Tcg		muscle, skeletal, receptor tyrosine kinase							215	207	209					9																	113547892		1966	4156	6122	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547892C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1672C>T	9.37:g.113547892C>T	ENSP00000363571:p.Pro558Ser					MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S	p.P550S			O15146	MUSK_HUMAN			11	1774	+			558					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1648C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	720	0	0	0	1	0	6	720					T	113547892	C	T	113547892	3	4	99	1	0	0	0	0	1	0	0	0	10030	739	26	2	1754	2	MUSK	9	113547892	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	11640801	113547892	27665539	81	34677											
LHX3	8022	broad.mit.edu	37	chr9	139090879	139090879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttggcggtgatggtcgtgcGcggccgcttggccgtggcct	18	12	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr9:139090879G>A	ENST00000371748.5	-	4	577	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	LHX3_ENST00000371746.3_Missense_Mutation_p.R166C	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	161					inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ATGGTCGTGCGCGGCCGCTTG	0.761																																						ENST00000371746.3																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(496-498)Cgc>Tgc		LIM homeobox 3							16	18	18					9																	139090879		2191	4289	6480	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090879G>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"Homeoboxes / LIM class"	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.481C>T	9.37:g.139090879G>A	ENSP00000360813:p.Arg161Cys					LHX3_ENST00000371748.5_Missense_Mutation_p.R161C	p.R166C	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	4	614	-		Myeloproliferative disorder(178;0.0511)	161					Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.496C>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683978	0.88639	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.99186	-5.53;-5.53	3.81	3.81	0.43845	Homeobox (3);Zinc finger, LIM-type (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97659	1.0159	10	0.87932	D	0	.	10.2927	0.43605	0.0:0.0:0.8028:0.1972	.	161;166	Q9UBR4;F1T0D9	LHX3_HUMAN;.	C	161;166;164	ENSP00000360813:R161C;ENSP00000360811:R166C	ENSP00000319224:R164C	R	-	1	0	LHX3	138230700	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.984000	0.76186	1.959000	0.56917	0.555000	0.69702	CGC		0.761	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			19	57	0	0	0	1	0	19	57					A	139090879	G	A	139090879	3	1	99	1	0	0	0	0	1	0	0	0	8804	1087	38	1	724	1	LHX3	9	139090879	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	25542987	139090879	2122552	82	34678											
GPRIN2	9721	broad.mit.edu	37	chr10	46999606	46999607	+	Frame_Shift_Ins	INS	-	-	GA													gtggcatgagggaggtgaggINSgctggtggctgctgccatgc					rs370294797|rs374420863		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:46999606_46999607insGA	ENST00000374317.1	+	3	999_1000	c.726_727insGA	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Ins_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGGAGGTGAGGGCTGGTGGCTG	0.634																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(724-729)agctggfs		G protein regulated inducer of neurite outgrowth 2																																				SO:0001589	frameshift_variant	9721							g.chr10:46999606_46999607insGA	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	Exception_encountered	10.37:g.46999606_46999607insGA	ENSP00000363436:p.Ala243fs					GPRIN2_ENST00000374317.1_Frame_Shift_Ins_p.SW242fs	p.SW242fs			O60269	GRIN2_HUMAN			1	1681_1682	+			242	VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672).	R -> G (in dbSNP:rs3127683).			Q5SVF0	Frame_Shift_Ins	INS	ENST00000374317.1	37	c.726_727insGA	CCDS31192.1																																																																																				0.634	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		8	467						8	467	---	---	---	---	GA	46999607	-	GA	46999606	7	5	99	1	0	1	1	0	0	0	0	0	6760	1223	43	0	728	0	GPRIN2	10	46999606	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08		46999606	88535141	83	34679											
SLC18A3	6572	broad.mit.edu	37	chr10	50819803	50819803	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccggccttcgtgcctcatgtGctgggcgtctacctcaccgt	11	16	3	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:50819803G>T	ENST00000374115.3	+	1	1457	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_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	339					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						TGCCTCATGTGCTGGGCGTCT	0.667																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(1015-1017)gtG>gtT		solute carrier family 18 (vesicular acetylcholine transporter), member 3							71	70	70					10																	50819803		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819803G>T	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.1017G>T	10.37:g.50819803G>T						CHAT_ENST00000339797.1_Intron	p.V339V	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1457	+			339					B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1017G>T	CCDS7231.1																																																																																				0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		71	533	1	0	1.68946e-44	1	1.83964e-44	71	533					T	50819803	G	T	50819803	2	4	99	1	0	0	0	0	0	0	0	1	14477	1306	46	3		3	SLC18A3	10	50819803	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	3820197	50819803	84714944	84	34680											
CTNNA3	29119	broad.mit.edu	37	chr10	68940134	68940134	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgaatggcgttgcattctgCgataatccgctctcggtgta	12	10	2	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:68940134C>T	ENST00000433211.2	-	7	1162	c.988G>A	c.(988-990)Gca>Aca	p.A330T	CTNNA3_ENST00000545309.1_Missense_Mutation_p.A330T|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A330T	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						TTGCATTCTGCGATAATCCGC	0.527																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(988-990)Gca>Aca		catenin (cadherin-associated protein), alpha 3							140	120	127					10																	68940134		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940134C>T	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.988G>A	10.37:g.68940134C>T	ENSP00000389714:p.Ala330Thr					CTNNA3_ENST00000545309.1_Missense_Mutation_p.A330T|CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.A330T	p.A330T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1162	-			330						Missense_Mutation	SNP	ENST00000433211.2	37	c.988G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441070	0.63067	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.44083	1.38;1.38;0.93	5.83	3.75	0.43078	.	0.123947	0.35349	N	0.003278	T	0.45558	0.1348	M	0.86178	2.8	0.44234	D	0.997079	B;B;B;B	0.21821	0.013;0.033;0.061;0.031	B;B;B;B	0.25759	0.018;0.03;0.063;0.012	T	0.50541	-0.8816	10	0.54805	T	0.06	-7.2666	7.2252	0.26012	0.0:0.7176:0.0:0.2824	.	330;330;330;330	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	T	330	ENSP00000389714:A330T;ENSP00000362849:A330T;ENSP00000441444:A330T	ENSP00000362849:A330T	A	-	1	0	CTNNA3	68610140	0.971000	0.33674	0.957000	0.39632	0.910000	0.53928	2.199000	0.42715	1.458000	0.47871	0.585000	0.79938	GCA		0.527	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		11	328	0	0	0	1	0	11	328					T	68940134	C	T	68940134	3	4	99	1	0	0	0	0	1	0	0	0	4025	768	27	1	1747	1	CTNNA3	10	68940134	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	18120331	68940134	66594613	85	34681											
DNAJC12	56521	broad.mit.edu	37	chr10	69565430	69565433	+	Frame_Shift_Del	DEL	TCTT	TCTT	-													ctgcggttgaagccagctccTctttctttctttctctttgc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:69565430_69565433delTCTT	ENST00000225171.2	-	4	562_565	c.410_413delAAGA	c.(409-414)aaagagfs	p.KE137fs	RNU6-1250P_ENST00000391218.1_RNA|DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	137										breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AGCCAGCTCCTCTTTCTTTCTTTC	0.446																																						ENST00000225171.2																			0				breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						c.(409-414)agfs		DnaJ (Hsp40) homolog, subfamily C, member 12																																				SO:0001589	frameshift_variant	56521				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:69565430_69565433delTCTT	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.410_413delAAGA	10.37:g.69565438_69565441delTCTT	ENSP00000225171:p.Lys137fs					DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs	p.KE137fs	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN			4	562_565	-			137					Q5JVQ1|Q9UKB2	Frame_Shift_Del	DEL	ENST00000225171.2	37	c.410_413delAAGA	CCDS7271.1																																																																																				0.446	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048291.1	NM_021800		8	1216						8	1216	---	---	---	---	-	69565433	TCTT	-	69565430	7	5	99	1	0	1	0	1	0	0	0	0	4647	1551	54	0	191	0	DNAJC12	10	69565430	Frame_Shift_Del	DEL	TCTT	TCGA-IB-AAUU-01A-11D-A377-08	625296	69565430	65969317	86	34682											
KIAA0913	23053	broad.mit.edu	37	chr10	75559013	75559013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccggttacagtggcagCggcagcagtgacagcagcag	16	10	0	2	rs202213053		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:75559013C>T	ENST00000605216.1	+	21	4632	c.4415C>T	c.(4414-4416)gCg>gTg	p.A1472V	ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1477V|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A1477V|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1439V	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1472	Poly-Ala.						zinc ion binding (GO:0008270)										ACAGTGGCAGCGGCAGCAGTG	0.647																																						ENST00000604729.1																			0											c.(4429-4431)gCg>gTg		zinc finger, SWIM-type containing 8							14	23	20					10																	75559013		2050	4215	6265	SO:0001583	missense	23053							g.chr10:75559013C>T	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.4415C>T	10.37:g.75559013C>T	ENSP00000474748:p.Ala1472Val					ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1477V|ZSWIM8_ENST00000604524.1_Intron|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1439V|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.A1472V	p.A1477V							21	4727	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.4430C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.475279|4.475279	0.84640|0.84640	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.45668|.	0.89|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.219107|.	0.29884|.	U|.	0.010959|.	T|T	0.49813|0.49813	0.1579|0.1579	N|N	0.16368|0.16368	0.405|0.405	0.41103|0.41103	D|D	0.985683|0.985683	P;P;P|.	0.41624|.	0.757;0.757;0.757|.	B;B;B|.	0.30943|.	0.122;0.122;0.122|.	T|T	0.44159|0.44159	-0.9346|-0.9346	10|5	0.11485|.	T|.	0.65|.	-5.5053|-5.5053	16.1537|16.1537	0.81640|0.81640	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1472;1484;1477|.	A7E2V4;A7E2V4-3;A7E2V4-4|.	K0913_HUMAN;.;.|.	V|W	1477|747	ENSP00000381693:A1477V|.	ENSP00000381693:A1477V|.	A|R	+|+	2|1	0|2	KIAA0913|KIAA0913	75229019|75229019	0.984000|0.984000	0.35163|0.35163	0.737000|0.737000	0.30932|0.30932	0.889000|0.889000	0.51656|0.51656	3.025000|3.025000	0.49681|0.49681	2.681000|2.681000	0.91329|0.91329	0.643000|0.643000	0.83706|0.83706	GCG|CGG		0.647	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		13	69	0	0	0	1	0	13	69					T	75559013	C	T	75559013	3	4	99	1	0	0	0	0	1	0	0	0	8230	768	27	1	4512	1	KIAA0913	10	75559013	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	5993583	75559013	59975734	87	34683											
MARCH5	54708	broad.mit.edu	37	chr10	94110927	94110927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatttacgacaggcacaccGcaaaattctgaattatccag	6	10	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:94110927G>A	ENST00000358935.2	+	6	1132	c.800G>A	c.(799-801)cGc>cAc	p.R267H		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	267					negative regulation of cell aging (GO:0090344)|positive regulation of mitochondrial fission (GO:0090141)|protein autoubiquitination (GO:0051865)|protein localization to mitochondrion (GO:0070585)|protein polyubiquitination (GO:0000209)|regulation of mitochondrial fission (GO:0090140)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	GTPase binding (GO:0051020)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CAGGCACACCGCAAAATTCTG	0.353																																						ENST00000358935.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(799-801)cGc>cAc		membrane-associated ring finger (C3HC4) 5							82	78	79					10																	94110927		2203	4300	6503	SO:0001583	missense	54708				cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr10:94110927G>A	BC015480	CCDS7420.1	10q23.32-q23.33	2013-01-09	2005-01-26	2005-01-27	ENSG00000198060	ENSG00000198060		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	26025	protein-coding gene	gene with protein product		610637	"ring finger protein 153"	RNF153		14722266	Standard	XM_005269923		Approved	FLJ20445, MARCH-V	uc001khx.1	Q9NX47	OTTHUMG00000018757	ENST00000358935.2:c.800G>A	10.37:g.94110927G>A	ENSP00000351813:p.Arg267His						p.R267H	NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN			6	1132	+			267						Missense_Mutation	SNP	ENST00000358935.2	37	c.800G>A	CCDS7420.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627017	0.87560	.	.	ENSG00000198060	ENST00000358935	T	0.70986	-0.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88657	0.3186	10	0.87932	D	0	-4.1613	19.6604	0.95864	0.0:0.0:1.0:0.0	.	267	Q9NX47	MARH5_HUMAN	H	267	ENSP00000351813:R267H	ENSP00000351813:R267H	R	+	2	0	MARCH5	94100907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.378000	0.97191	2.648000	0.89879	0.655000	0.94253	CGC		0.353	MARCH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049388.1	NM_017824		6	723	0	0	0	1	0	6	723					A	94110927	G	A	94110927	3	1	99	1	0	0	0	0	1	0	0	0	9345	1087	38	1	822	1	MARCH5	10	94110927	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	18551914	94110927	41423820	88	34684											
PDCD11	22984	broad.mit.edu	37	chr10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agactctgtgttgatccagaCgctggccgagatgaccccag	12	12	1	5	rs142899352		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:105182763C>T	ENST00000369797.3	+	18	2610	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	839					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)	p.T839M(1)		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)		TTGATCCAGACGCTGGCCGAG	0.527																																						ENST00000369797.3																			1	Substitution - Missense(1)	p.T839M(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2515-2517)aCg>aTg		programmed cell death 11		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116	103	107		2516	5	1	10	dbSNP_134	107	0,8600		0,0,4300	no	missense	PDCD11	NM_014976.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	839/1872	105182763	1,13005	2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105182763C>T	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.2516C>T	10.37:g.105182763C>T	ENSP00000358812:p.Thr839Met						p.T839M	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	18	2610	+		Colorectal(252;0.0747)|Breast(234;0.128)	839					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2516C>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669172	0.47677	2.27E-4	0.0	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10288	2.89	5.95	5.04	0.67666	.	0.388932	0.31092	N	0.008272	T	0.12646	0.0307	L	0.51422	1.61	0.35143	D	0.769016	D	0.67145	0.996	B	0.44163	0.443	T	0.07616	-1.0763	10	0.45353	T	0.12	-14.7673	11.5381	0.50651	0.0:0.9178:0.0:0.0822	.	839	Q14690	RRP5_HUMAN	M	839	ENSP00000358812:T839M	ENSP00000358812:T839M	T	+	2	0	PDCD11	105172753	0.029000	0.19370	0.968000	0.41197	0.402000	0.30811	0.122000	0.15687	2.826000	0.97356	0.491000	0.48974	ACG		0.527	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			40	269	0	0	0	1	0	40	269					T	105182763	C	T	105182763	3	4	99	1	0	0	0	0	1	0	0	0	11659	536	19	1	2582	1	PDCD11	10	105182763	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	11071836	105182763	30351984	89	34685											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtctcagctggcgccGtaaagtgctgatgtccatct	13	10	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					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)		AGCTGGCGCCGTAAAGTGCTG	0.647																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2335-2337)Cgg>Tgg		SH3 and PX domains 2A							261	251	254					10																	105362640		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362640G>A	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.2335C>T	10.37:g.105362640G>A	ENSP00000358789:p.Arg779Trp					SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000315994.6_5'UTR	p.R779W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2611	-		Colorectal(252;0.0815)|Breast(234;0.131)	779					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2335C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		9	1445	0	0	0	1	0	9	1445					A	105362640	G	A	105362640	3	1	99	1	0	0	0	0	1	0	0	0	14306	1144	40	1	1070	1	SH3PXD2A	10	105362640	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	179877	105362640	30172107	90	34686											
FAM160B1	57700	broad.mit.edu	37	chr10	116608431	116608431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctggtaccggatgacGcaaaatcctcctaccatgtt	8	12	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr10:116608431G>A	ENST00000369248.4	+	13	2073	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A580T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	580										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACCGGATGACGCAAAATCCTC	0.403																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(1738-1740)Gca>Aca		family with sequence similarity 160, member B1							115	90	98					10																	116608431		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116608431G>A	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1738G>A	10.37:g.116608431G>A	ENSP00000358251:p.Ala580Thr					FAM160B1_ENST00000369250.3_Missense_Mutation_p.A580T	p.A580T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			13	2073	+			580					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.1738G>A	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609124	0.87258	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.16457	2.36;2.34	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	L	0.49126	1.545	0.80722	D	1	D;P	0.56287	0.975;0.598	P;B	0.54100	0.742;0.06	T	0.00849	-1.1541	10	0.15952	T	0.53	-23.8406	19.9439	0.97175	0.0:0.0:1.0:0.0	.	580;580	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	T	580	ENSP00000358251:A580T;ENSP00000358253:A580T	ENSP00000358251:A580T	A	+	1	0	FAM160B1	116598421	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.477000	0.97925	2.797000	0.96272	0.561000	0.74099	GCA		0.403	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		4	259	0	0	0	1	0	4	259					A	116608431	G	A	116608431	3	1	99	1	0	0	0	0	1	0	0	0	5491	1087	38	1	1788	1	FAM160B1	10	116608431	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	11245791	116608431	18926316	91	34687											
LRRC55	219527	broad.mit.edu	37	chr11	56950145	56950145	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgaaaccggatccagCgctgtacagcaggtaataga	13	10	0	1	rs143027441	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:56950145C>T	ENST00000497933.1	+	1	925	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	230	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R260C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCGGATCCAGCGCTGTACAGC	0.607																																						ENST00000497933.1																			1	Substitution - Missense(1)	p.R260C(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(778-780)Cgc>Tgc		leucine rich repeat containing 55		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	67	63	64		778	5.5	1	11	dbSNP_134	64	1,8591	1.2+/-3.3	0,1,4295	no	missense	LRRC55	NM_001005210.2	180	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	260/342	56950145	2,12992	2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950145C>T		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.778C>T	11.37:g.56950145C>T	ENSP00000419542:p.Arg260Cys						p.R260C	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	925	+			230			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.778C>T	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.421766	0.62622	2.27E-4	1.16E-4	ENSG00000183908	ENST00000497933	T	0.22743	1.94	5.53	5.53	0.82687	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000016	T	0.33411	0.0862	L	0.43923	1.385	0.58432	D	0.999998	D	0.89917	1.0	P	0.55871	0.786	T	0.01363	-1.1374	10	0.54805	T	0.06	.	16.3896	0.83531	0.0:1.0:0.0:0.0	.	230	Q6ZSA7	LRC55_HUMAN	C	260	ENSP00000419542:R260C	ENSP00000419542:R260C	R	+	1	0	LRRC55	56706721	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.663000	0.37429	2.608000	0.88229	0.561000	0.74099	CGC		0.607	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		53	382	0	0	0	1	0	53	382					T	56950145	C	T	56950145	3	4	99	1	0	0	0	0	1	0	0	0	9049	768	27	1	780	1	LRRC55	11	56950145	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		56950145	78056371	92	34688											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					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						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	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.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		7	890						7	890	---	---	---	---	A	63149669	-	A	63149668	7	5	99	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	6199523	63149668	71856848	93	34689											
STIP1	10963	broad.mit.edu	37	chr11	63971050	63971050	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgagtgacccagccatgcgCcttatcctggaacagatgca	10	12	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:63971050C>T	ENST00000305218.4	+	13	1662	c.1515C>T	c.(1513-1515)cgC>cgT	p.R505R	STIP1_ENST00000358794.5_Silent_p.R552R|STIP1_ENST00000538945.1_Silent_p.R481R	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	505	STI1 2.				response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGCCATGCGCCTTATCCTGG	0.582																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1654-1656)cgC>cgT		stress-induced-phosphoprotein 1							64	49	54					11																	63971050		2201	4297	6498	SO:0001819	synonymous_variant	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63971050C>T	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1515C>T	11.37:g.63971050C>T						STIP1_ENST00000305218.4_Silent_p.R505R|STIP1_ENST00000538945.1_Silent_p.R481R	p.R552R			P31948	STIP1_HUMAN			13	2209	+			505					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Silent	SNP	ENST00000305218.4	37	c.1656C>T	CCDS8058.1																																																																																				0.582	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		54	133	0	0	0	1	0	54	133					T	63971050	C	T	63971050	2	4	99	1	0	0	0	0	0	0	0	1	15337	726	26	2		2	STIP1	11	63971050	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	821382	63971050	71035466	94	34690											
MUS81	80198	broad.mit.edu	37	chr11	65630663	65630663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacagcagtgccaggagcaGcttcagcagagctgtgagga	15	9	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:65630663G>A	ENST00000308110.4	+	7	1082	c.733G>A	c.(733-735)Gct>Act	p.A245T	CFL1_ENST00000534769.1_5'Flank|MUS81_ENST00000533035.1_Missense_Mutation_p.A170T	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	245					DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCCAGGAGCAGCTTCAGCAGA	0.637								Homologous recombination																														ENST00000308110.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13						c.(733-735)Gct>Act	Homologous recombination	MUS81 structure-specific endonuclease subunit							46	41	42					11																	65630663		2200	4296	6496	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65630663G>A		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"	606591	"MUS81 endonuclease homolog (yeast)", "MUS81 endonuclease homolog (S. cerevisiae)"			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.733G>A	11.37:g.65630663G>A	ENSP00000307853:p.Ala245Thr					MUS81_ENST00000533035.1_Missense_Mutation_p.A170T	p.A245T	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	7	1082	+			245					Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.733G>A	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.761|9.761	1.170193|1.170193	0.21621|0.21621	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374;ENST00000530111	T;T|.	0.14766|.	2.48;2.72|.	5.11|5.11	1.93|1.93	0.25924|0.25924	.|.	0.824135|.	0.11566|.	N|.	0.551224|.	T|T	0.34571|0.34571	0.0902|0.0902	L|L	0.41236|0.41236	1.265|1.265	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.06405|.	0.002|.	T|T	0.21655|0.21655	-1.0239|-1.0239	10|5	0.08599|.	T|.	0.76|.	-6.8355|-6.8355	5.7461|5.7461	0.18120|0.18120	0.1806:0.0:0.6625:0.1569|0.1806:0.0:0.6625:0.1569	.|.	245|.	Q96NY9|.	MUS81_HUMAN|.	T|N	170;245;245|169;140	ENSP00000432287:A170T;ENSP00000307853:A245T|.	ENSP00000307853:A245T|.	A|S	+|+	1|2	0|0	MUS81|MUS81	65387239|65387239	0.107000|0.107000	0.21998|0.21998	0.073000|0.073000	0.20177|0.20177	0.212000|0.212000	0.24457|0.24457	1.083000|1.083000	0.30815|0.30815	1.138000|1.138000	0.42230|0.42230	0.556000|0.556000	0.70494|0.70494	GCT|AGC		0.637	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		42	113	0	0	0	1	0	42	113					A	65630663	G	A	65630663	3	1	99	1	0	0	0	0	1	0	0	0	10029	971	34	2	759	2	MUS81	11	65630663	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1659613	65630663	69375853	95	34691											
POU2AF1	5450	broad.mit.edu	37	chr11	111225288	111225288	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccactgcgggcgtggCggagcttcttgtctgtgaca	16	12	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:111225288C>T	ENST00000393067.3	-	5	983	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	157					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCGGGCGTGGCGGAGCTTCTT	0.642			T	BCL6	NHL																																	ENST00000393067.3				Dom	yes		11	11q23.1	5450	T	"POU domain, class 2, associating factor 1 (OBF1)"			L	BCL6		NHL		0				breast(1)|kidney(2)|lung(2)	5						c.(469-471)Gcc>Acc		POU class 2 associating factor 1							16	23	21					11																	111225288		2194	4293	6487	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111225288C>T		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.469G>A	11.37:g.111225288C>T	ENSP00000376786:p.Ala157Thr						p.A157T	NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	5	983	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	157					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.469G>A	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578757	0.65878	.	.	ENSG00000110777	ENST00000393067	T	0.30448	1.53	4.87	1.8	0.24995	.	0.529845	0.18793	N	0.131018	T	0.26085	0.0636	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.23084	-1.0198	10	0.51188	T	0.08	-25.8385	5.1776	0.15143	0.1407:0.6002:0.0:0.259	.	157	Q16633	OBF1_HUMAN	T	157	ENSP00000376786:A157T	ENSP00000376786:A157T	A	-	1	0	POU2AF1	110730498	0.018000	0.18449	0.001000	0.08648	0.845000	0.48019	0.185000	0.16958	0.189000	0.20188	0.563000	0.77884	GCC		0.642	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235		6	24	0	0	0	1	0	6	24					T	111225288	C	T	111225288	3	4	99	1	0	0	0	0	1	0	0	0	12312	768	27	1	305	1	POU2AF1	11	111225288	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	45594625	111225288	23781228	96	34692											
PCSK7	9159	broad.mit.edu	37	chr11	117090363	117090363	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgccacgtgaggcagggccGcacctgcagcattaaggcta	13	13	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr11:117090363G>A	ENST00000320934.3	-	10	1897	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	423	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		AGGCAGGGCCGCACCTGCAGC	0.627			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1267-1269)Cgg>Tgg		proprotein convertase subtilisin/kexin type 7							57	46	50					11																	117090363		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090363G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1267C>T	11.37:g.117090363G>A	ENSP00000325917:p.Arg423Trp					PCSK7_ENST00000540028.1_Missense_Mutation_p.R64W	p.R423W	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1897	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	423			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1267C>T	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802841	0.90623	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.87887	-2.31;-2.31	5.69	4.7	0.59300	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94305	0.8170	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94972	0.8118	10	0.72032	D	0.01	-34.1224	16.525	0.84328	0.0:0.0:0.8607:0.1393	.	423	Q16549	PCSK7_HUMAN	W	423;64;423	ENSP00000325917:R423W;ENSP00000441944:R64W	ENSP00000325917:R423W	R	-	1	2	PCSK7	116595573	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.085000	0.71343	2.696000	0.92011	0.557000	0.71058	CGG		0.627	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		4	220	0	0	0	1	0	4	220					A	117090363	G	A	117090363	3	1	99	1	0	0	0	0	1	0	0	0	11647	1086	38	1	1122	1	PCSK7	11	117090363	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	5865075	117090363	17916153	97	34693											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		70	233	0	0	0	1	0	70	233					G	25398285	C	G	25398285	3	3	99	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		25398285	108453610	98	34694											
OR6C65	403282	broad.mit.edu	37	chr12	55794609	55794610	+	Frame_Shift_Ins	INS	-	-	T													atgcttccatggcccaagtaINSttttttttaattcttttggg							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:55794609_55794610insT	ENST00000379665.2	+	1	396_397	c.297_298insT	c.(298-300)tttfs	p.F100fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L102fs*1(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGGCCCAAGTATTTTTTTTAAT	0.356																																						ENST00000379665.2																			1	Deletion - Frameshift(1)	p.L102fs*1(1)	large_intestine(1)	cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(295-300)gtttttfs		olfactory receptor, family 6, subfamily C, member 65																																				SO:0001589	frameshift_variant	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794609_55794610insT		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.305dupT	12.37:g.55794617_55794617dupT	ENSP00000368986:p.Phe100fs						p.VF99fs	NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN			1	396_397	+			99					B2RNH9	Frame_Shift_Ins	INS	ENST00000379665.2	37	c.297_298insT	CCDS31821.1																																																																																				0.356	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			9	704						9	704	---	---	---	---	T	55794610	-	T	55794609	7	5	99	1	0	1	1	0	0	0	0	0	11237	436	16	0	299	0	OR6C65	12	55794609	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	30396324	55794609	78057286	99	34695											
LRP1	4035	broad.mit.edu	37	chr12	57554894	57554894	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgctcaatggcacagaccGgaaggtgggcaggcatgtgc	15	10	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:57554894G>A	ENST00000243077.3	+	13	2664	c.2198G>A	c.(2197-2199)cGg>cAg	p.R733Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	733					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)	GGCACAGACCGGAAGGTGGGC	0.582																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2197-2199)cGg>cAg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						74	73	73					12																	57554894		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57554894G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2198G>A	12.37:g.57554894G>A	ENSP00000243077:p.Arg733Gln						p.R733Q	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	13	2664	+			733					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2198G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570954	0.86542	.	.	ENSG00000123384	ENST00000243077	T	0.32023	1.47	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000002	T	0.60130	0.2245	M	0.84433	2.695	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.63655	-0.6588	10	0.62326	D	0.03	.	16.9063	0.86128	0.0:0.0:1.0:0.0	.	733	Q07954	LRP1_HUMAN	Q	733	ENSP00000243077:R733Q	ENSP00000243077:R733Q	R	+	2	0	LRP1	55841161	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	CGG		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		6	348	0	0	0	1	0	6	348					A	57554894	G	A	57554894	3	1	99	1	0	0	0	0	1	0	0	0	8989	1116	39	1	2248	1	LRP1	12	57554894	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1760285	57554894	76297001	100	34696											
MYF5	4617	broad.mit.edu	37	chr12	81110965	81110965	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagtggctgccttcggagcGcacaaagcagagctgcaggg	16	11	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:81110965G>A	ENST00000228644.3	+	1	275	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	41					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(121-123)gcG>gcA		myogenic factor 5							37	34	35					12																	81110965		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110965G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.123G>A	12.37:g.81110965G>A							p.A41A	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	275	+			41					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.123G>A	CCDS9020.1																																																																																				0.617	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		4	165	0	0	0	1	0	4	165					A	81110965	G	A	81110965	2	1	99	1	0	0	0	0	0	0	0	1	10068	1074	38	1		1	MYF5	12	81110965	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	23556071	81110965	52740930	101	34697											
DDX55	57696	broad.mit.edu	37	chr12	124090516	124090516	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcatgcgaaacaaagatgtCgctgcagaagcggtgagtgc	13	8	1	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr12:124090516C>T	ENST00000238146.4	+	2	197	c.147C>T	c.(145-147)gtC>gtT	p.V49V	DDX55_ENST00000538744.1_Silent_p.V49V	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	49	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACAAAGATGTCGCTGCAGAAG	0.498																																						ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(145-147)gtC>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							180	147	158					12																	124090516		2203	4300	6503	SO:0001819	synonymous_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124090516C>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.147C>T	12.37:g.124090516C>T						DDX55_ENST00000538744.1_Silent_p.V49V	p.V49V	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	2	197	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		49			Helicase ATP-binding.		Q658L6|Q8IYH0|Q9HCH7	Silent	SNP	ENST00000238146.4	37	c.147C>T	CCDS9251.1																																																																																				0.498	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			5	485	0	0	0	1	0	5	485					T	124090516	C	T	124090516	2	4	99	1	0	0	0	0	0	0	0	1	4384	871	31	1		1	DDX55	12	124090516	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	42979551	124090516	9761379	102	34698											
MYO16	23026	broad.mit.edu	37	chr13	109779791	109779791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcctcccgtctccacGgaaacagcccccgcccaagc	8	21	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:109779791G>A	ENST00000357550.2	+	30	3919	c.3878G>A	c.(3877-3879)cGg>cAg	p.R1293Q	MYO16_ENST00000457511.2_Missense_Mutation_p.R805Q|MYO16_ENST00000356711.2_Missense_Mutation_p.R1293Q	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)			CCGTCTCCACGGAAACAGCCC	0.662																																						ENST00000356711.2																			0				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						c.(3877-3879)cGg>cAg		myosin XVI							36	36	36					13																	109779791		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779791G>A		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.3878G>A	13.37:g.109779791G>A	ENSP00000350160:p.Arg1293Gln					MYO16_ENST00000357550.2_Missense_Mutation_p.R1293Q|MYO16_ENST00000457511.2_Missense_Mutation_p.R805Q	p.R1293Q	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		31	4004	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1293						Missense_Mutation	SNP	ENST00000357550.2	37	c.3878G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064283	0.93898	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.50277	0.75;0.75;0.75	5.5	5.5	0.81552	.	0.000000	0.37178	U	0.002219	T	0.70684	0.3252	M	0.79258	2.445	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.71441	-0.4592	9	.	.	.	.	18.4132	0.90559	0.0:0.0:1.0:0.0	.	805;1293	F8W883;Q9Y6X6	.;MYO16_HUMAN	Q	1293;1293;805	ENSP00000349145:R1293Q;ENSP00000350160:R1293Q;ENSP00000401633:R805Q	.	R	+	2	0	MYO16	108577792	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	8.813000	0.91963	2.584000	0.87258	0.563000	0.77884	CGG		0.662	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		21	135	0	0	0	1	0	21	135					A	109779791	G	A	109779791	3	1	99	1	0	0	0	0	1	0	0	0	10105	1116	39	1	3996	1	MYO16	13	109779791	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		109779791	5390087	103	34699											
TFDP1	7027	broad.mit.edu	37	chr13	114277494	114277494	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgtccttgtgttgcaGgcgtggtgtccctcgtggcc	15	12	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr13:114277494G>T	ENST00000375370.5	+	4	291		c.e4-1		TFDP1_ENST00000544902.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1						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)			TTGTGTTGCAGGCGTGGTGTC	0.532										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.e4-1		transcription factor Dp-1							108	84	92					13																	114277494		2203	4300	6503	SO:0001630	splice_region_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114277494G>T	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.80-1G>T	13.37:g.114277494G>T		TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site		NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		4	291	+	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)						B4DLQ9|Q5JSB4|Q8IZL5	Splice_Site	SNP	ENST00000375370.5	37		CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235800	0.39498	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5431	0.87853	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TFDP1	113325495	1.000000	0.71417	0.997000	0.53966	0.174000	0.22865	8.046000	0.89438	2.125000	0.65367	0.491000	0.48974	.		0.532	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	Intron	4	76	1	0	2.56e-06	1	2.65481e-06	4	76					T	114277494	G	T	114277494	5	4	99	1	0	0	0	0	0	0	1	0	15849	1014	35	3	89	3	TFDP1	13	114277494	Splice_Site	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	4497703	114277494	892384	104	34700											
TOX4	9878	broad.mit.edu	37	chr14	21961173	21961173	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gttaccattctgcagcagccTcctccactccaggccatgca	7	17	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:21961173T>C	ENST00000405508.1	+	8	1674	c.1398T>C	c.(1396-1398)ccT>ccC	p.P466P	TOX4_ENST00000262709.3_Silent_p.P466P|TOX4_ENST00000448790.2_Silent_p.P443P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	466	Gln/Pro-rich.					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)		TGCAGCAGCCTCCTCCACTCC	0.552																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1396-1398)ccT>ccC		TOX high mobility group box family member 4							90	80	83					14																	21961173		2203	4300	6503	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961173T>C	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.1398T>C	14.37:g.21961173T>C						TOX4_ENST00000448790.2_Silent_p.P443P|TOX4_ENST00000262709.3_Silent_p.P466P	p.P466P			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1674	+	all_cancers(95;0.000465)		466			Gln/Pro-rich.		B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.1398T>C	CCDS32043.1																																																																																				0.552	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		53	557	0	0	0	1	0	53	557					C	21961173	T	C	21961173	2	2	99	1	0	0	0	0	0	0	0	1	16433	1538	54	4		4	TOX4	14	21961173	Silent	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08		21961173	85388367	105	34701											
LTB4R2	56413	broad.mit.edu	37	chr14	24780173	24780173	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcggtgtactacgtgtgCgcgctcagcatgtacgccag	14	11	1	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:24780173C>T	ENST00000528054.1	+	1	2013	c.396C>T	c.(394-396)tgC>tgT	p.C132C	LTB4R_ENST00000345363.3_5'Flank|LTB4R2_ENST00000533293.1_Silent_p.C101C|CIDEB_ENST00000554411.1_5'Flank|CIDEB_ENST00000555817.1_5'UTR|CIDEB_ENST00000336557.5_5'UTR|LTB4R_ENST00000396789.4_5'Flank|LTB4R2_ENST00000543919.1_Silent_p.C101C|CIDEB_ENST00000258807.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	132					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		ACTACGTGTGCGCGCTCAGCA	0.721																																						ENST00000528054.1																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(394-396)tgC>tgT		leukotriene B4 receptor 2							18	18	18					14																	24780173		1966	3908	5874	SO:0001819	synonymous_variant	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24780173C>T	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"GPCR / Class A : Leukotriene receptors"	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.396C>T	14.37:g.24780173C>T						CIDEB_ENST00000336557.5_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.C101C|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000533293.1_Silent_p.C101C	p.C132C			Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	2013	+			132					Q5KU28|Q9NPE5	Silent	SNP	ENST00000528054.1	37	c.396C>T																																																																																					0.721	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4			35	254	0	0	0	1	0	35	254					T	24780173	C	T	24780173	2	4	99	1	0	0	0	0	0	0	0	1	9110	776	27	1		1	LTB4R2	14	24780173	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	2819000	24780173	82569367	106	34702											
YLPM1	56252	broad.mit.edu	37	chr14	75276279	75276279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagctgtagaacaggaacGatgggatgaagattctttct	11	6	3	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:75276279G>A	ENST00000552421.1	+	6	2724	c.2600G>A	c.(2599-2601)cGa>cAa	p.R867Q	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1378Q|YLPM1_ENST00000325680.7_Missense_Mutation_p.R1573Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1378	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)		GAACAGGAACGATGGGATGAA	0.478																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4717-4719)cGa>cAa		YLP motif containing 1							90	86	87					14																	75276279		1940	4159	6099	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75276279G>A	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.2600G>A	14.37:g.75276279G>A	ENSP00000447921:p.Arg867Gln					YLPM1_ENST00000552421.1_Missense_Mutation_p.R867Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1378Q	p.R1573Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	7	4842	+			1378			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4718G>A		.	.	.	.	.	.	.	.	.	.	G	24.1	4.492754	0.84962	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000008	T	0.66386	0.2784	L	0.27053	0.805	0.42961	D	0.994407	D;D	0.89917	0.997;1.0	D;D	0.81914	0.964;0.995	T	0.70139	-0.4954	9	0.72032	D	0.01	-5.0092	17.6519	0.88167	0.0:0.0:1.0:0.0	.	1378;1573	P49750-3;P49750-4	.;.	Q	867;1573;1378;1286	.	ENSP00000238571:R1378Q	R	+	2	0	YLPM1	74346032	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.826000	0.75298	2.588000	0.87417	0.591000	0.81541	CGA		0.478	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		27	85	0	0	0	1	0	27	85					A	75276279	G	A	75276279	3	1	99	1	0	0	0	0	1	0	0	0	17540	1058	37	1	4744	1	YLPM1	14	75276279	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	50496106	75276279	32073261	107	34703											
BCL11B	64919	broad.mit.edu	37	chr14	99641568	99641568	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcCtcgtcctcctcctccggctc	3	25	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:99641568C>G	ENST00000357195.3	-	4	1614	c.1605G>C	c.(1603-1605)gaG>gaC	p.E535D	BCL11B_ENST00000345514.2_Missense_Mutation_p.E464D|BCL11B_ENST00000443726.2_Missense_Mutation_p.E341D	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	535	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E535_E536delEE(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		cctcctcctcctcgtcctcct	0.697			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		1	Deletion - In frame(1)	p.E535_E536delEE(1)	prostate(1)	NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1390-1392)gaG>gaC		B-cell CLL/lymphoma 11B (zinc finger protein)							5	5	5					14																	99641568		2084	4070	6154	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641568C>G	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1605G>C	14.37:g.99641568C>G	ENSP00000349723:p.Glu535Asp					BCL11B_ENST00000443726.2_Missense_Mutation_p.E341D|BCL11B_ENST00000357195.3_Missense_Mutation_p.E535D	p.E464D	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1658	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	535					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1392G>C	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167616	0.38315	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.13657	2.57;2.6;2.57	3.81	0.863	0.19062	.	0.158674	0.40144	N	0.001176	T	0.07324	0.0185	N	0.22421	0.69	0.40982	D	0.984788	B;B	0.31413	0.322;0.185	B;B	0.31390	0.129;0.048	T	0.38394	-0.9663	10	0.30854	T	0.27	-8.4478	4.8239	0.13407	0.0:0.4986:0.1502:0.3512	.	464;535	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	D	535;464;341	ENSP00000349723:E535D;ENSP00000280435:E464D;ENSP00000387419:E341D	ENSP00000280435:E464D	E	-	3	2	BCL11B	98711321	0.591000	0.26824	0.998000	0.56505	0.990000	0.78478	-0.193000	0.09573	-0.059000	0.13154	0.561000	0.74099	GAG		0.697	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	34	0	0	0	1	0	3	34					G	99641568	C	G	99641568	3	3	99	1	0	0	0	0	1	0	0	0	1365	680	24	5	1083	5	BCL11B	14	99641568	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	24365289	99641568	7707972	108	34704											
BRF1	2972	broad.mit.edu	37	chr14	105692436	105692437	+	Frame_Shift_Ins	INS	-	-	G													aggctggccaggccccccttINSggcctttggccggctgtttt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr14:105692436_105692437insG	ENST00000546474.1	-	10	15976_15977	c.1017_1018insC	c.(1015-1020)gccaagfs	p.K340fs	BRF1_ENST00000327359.3_Frame_Shift_Ins_p.K225fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.K102fs|BRF1_ENST00000392557.4_Frame_Shift_Ins_p.K136fs|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.K313fs|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.K225fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	340				AK -> R (in Ref. 1; AAC50170). {ECO:0000305}.	gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		AGGCCCCCCTTGGCCTTTGGCC	0.47																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1015-1020)gcagggfs		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit																																				SO:0001589	frameshift_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105692436_105692437insG	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1018dupC	14.37:g.105692438_105692438dupG	ENSP00000448323:p.Lys340fs					BRF1_ENST00000392557.4_Frame_Shift_Ins_p.G136fs|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.G102fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.G313fs	p.G340fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	10	15976_15977	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	340	AK -> R (in Ref. 1; AAC50170).				B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Frame_Shift_Ins	INS	ENST00000546474.1	37	c.1017_1018insC	CCDS10001.1																																																																																				0.47	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		11	496						11	496	---	---	---	---	G	105692437	-	G	105692436	7	5	99	1	0	1	1	0	0	0	0	0	1514	1821	63	0	1051	0	BRF1	14	105692436	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	6050868	105692436	1657104	109	34705											
OCA2	4948	broad.mit.edu	37	chr15	28211955	28211955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatgtgtgcagtgaatccgGcaaagtccaggccctggaaa	12	10	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28211955G>A	ENST00000354638.3	-	15	1672	c.1517C>T	c.(1516-1518)gCc>gTc	p.A506V	OCA2_ENST00000382996.2_Missense_Mutation_p.A506V|OCA2_ENST00000353809.5_Missense_Mutation_p.A482V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	506					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)		AGTGAATCCGGCAAAGTCCAG	0.507									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1516-1518)gCc>gTc		oculocutaneous albinism II							67	56	60					15																	28211955		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28211955G>A		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.1517C>T	15.37:g.28211955G>A	ENSP00000346659:p.Ala506Val					OCA2_ENST00000382996.2_Missense_Mutation_p.A506V|OCA2_ENST00000353809.5_Missense_Mutation_p.A482V	p.A506V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1672	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	506					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1517C>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907629	0.72868	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	T;T;T	0.80480	-1.38;-1.38;-1.38	5.05	5.05	0.67936	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.76716	0.4026	N	0.16862	0.45	0.58432	D	0.999997	B;P	0.46621	0.196;0.881	B;P	0.51516	0.098;0.672	T	0.77451	-0.2583	10	0.38643	T	0.18	-19.0275	16.249	0.82472	0.0:0.0:1.0:0.0	.	482;506	Q04671-2;Q04671	.;P_HUMAN	V	506;482;506	ENSP00000346659:A506V;ENSP00000261276:A482V;ENSP00000372457:A506V	ENSP00000261276:A482V	A	-	2	0	OCA2	25885550	1.000000	0.71417	0.942000	0.38095	0.482000	0.33219	6.969000	0.76092	2.494000	0.84150	0.555000	0.69702	GCC		0.507	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		4	141	0	0	0	1	0	4	141					A	28211955	G	A	28211955	3	1	99	1	0	0	0	0	1	0	0	0	10857	1203	42	2	1039	2	OCA2	15	28211955	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		28211955	74319437	110	34706											
HERC2	8924	broad.mit.edu	37	chr15	28517442	28517442	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaagggcaaaagtggggcGctggtgccctgggcggaacg	19	9	0	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:28517442G>A	ENST00000261609.7	-	9	1110	c.1002C>T	c.(1000-1002)agC>agT	p.S334S		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)		AAAGTGGGGCGCTGGTGCCCT	0.567																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1000-1002)agC>agT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							72	57	62					15																	28517442		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28517442G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.1002C>T	15.37:g.28517442G>A							p.S334S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	9	1110	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	334						Silent	SNP	ENST00000261609.7	37	c.1002C>T	CCDS10021.1																																																																																				0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	356	0	0	0	1	0	10	356					A	28517442	G	A	28517442	2	1	99	1	0	0	0	0	0	0	0	1	7088	1078	38	1		1	HERC2	15	28517442	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	305487	28517442	74013950	111	34707											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		9	779						9	779	---	---	---	---	-	31196894	A	-	31196894	7	5	99	1	0	1	0	1	0	0	0	0	9984	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-IB-AAUU-01A-11D-A377-08	2679452	31196894	71334498	112	34708											
CHRNA7	1139	broad.mit.edu	37	chr15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtggcgccgccgcccGccagcaacgggaacctgctg	15	18	0	0	rs573369306		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716																																					Esophageal Squamous(193;529 2900 40232 43193)	ENST00000306901.3																			0				endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12						c.(1135-1137)Gcc>Acc		cholinergic receptor, nicotinic, alpha 7 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						16	24	21					15																	32460285		2179	4281	6460	SO:0001583	missense	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460285G>A	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1135G>A	15.37:g.32460285G>A	ENSP00000303727:p.Ala379Thr					CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T	p.A379T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN		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)	10	1232	+		all_lung(180;6.35e-11)	379					A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	c.1135G>A	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC		0.716	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			55	195	0	0	0	1	0	55	195					A	32460285	G	A	32460285	3	1	99	1	0	0	0	0	1	0	0	0	3397	1087	38	1	1173	1	CHRNA7	15	32460285	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1263391	32460285	70071107	113	34709											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		11	341						11	341	---	---	---	---	-	40328599	TGC	-	40328597	7	5	99	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-IB-AAUU-01A-11D-A377-08	7868312	40328597	62202795	114	34710											
AKAP13	11214	broad.mit.edu	37	chr15	86287016	86287017	+	Frame_Shift_Ins	INS	-	-	A													agccaaaggaaaagaaggagINSaaaaaaaagaagaacaaaac							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:86287016_86287017insA	ENST00000394518.2	+	36	8447_8448	c.8352_8353insA	c.(8353-8355)aaafs	p.K2785fs	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.K1030fs|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.K2789fs|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2785	Interaction with ESR1.|Poly-Lys.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAAAGAAGGAGAAAAAAAAGAA	0.545																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8350-8355)gaaaaafs		A kinase (PRKA) anchor protein 13																																				SO:0001589	frameshift_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86287016_86287017insA	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.8360dupA	15.37:g.86287024_86287024dupA	ENSP00000378026:p.Lys2785fs					AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.EK2788fs|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Frame_Shift_Ins_p.EK1029fs	p.EK2784fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8447_8448	+			2784			Interaction with ESR1.|Poly-Lys.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	c.8352_8353insA	CCDS32319.1																																																																																				0.545	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		9	312						9	312	---	---	---	---	A	86287017	-	A	86287016	7	5	99	1	0	1	1	0	0	0	0	0	449	933	33	0	8560	0	AKAP13	15	86287016	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	45958419	86287016	16244376	115	34711											
DET1	55070	broad.mit.edu	37	chr15	89070834	89070834	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtggaacagcttaccggcGctggatctgccttgcaaaat	12	10	1	0	rs569976232		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:89070834G>A	ENST00000268148.8	-	3	1412	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	DET1_ENST00000444300.1_Missense_Mutation_p.R434C|DET1_ENST00000564406.1_Missense_Mutation_p.R434C	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	423						nucleus (GO:0005634)		p.R434C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCTTACCGGCGCTGGATCTGC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19718	0.0		0.0	False		,,,				2504	0.0					ENST00000564406.1																			1	Substitution - Missense(1)	p.R434C(1)	kidney(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1300-1302)Cgc>Tgc		de-etiolated homolog 1 (Arabidopsis)							69	65	67					15																	89070834		1874	4112	5986	SO:0001583	missense	55070					nucleus		g.chr15:89070834G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1267C>T	15.37:g.89070834G>A	ENSP00000268148:p.Arg423Cys					DET1_ENST00000268148.8_Missense_Mutation_p.R423C|DET1_ENST00000444300.1_Missense_Mutation_p.R434C	p.R434C	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		4	1460	-	Lung NSC(78;0.105)|all_lung(78;0.182)		423					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1300C>T	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014609	0.75161	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.7	5.7	0.88788	.	0.049043	0.85682	D	0.000000	T	0.78953	0.4365	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.80725	-0.1254	9	0.87932	D	0	.	18.8293	0.92132	0.0:0.0:1.0:0.0	.	423;434	Q7L5Y6;B3KNN6	DET1_HUMAN;.	C	434;423	.	ENSP00000268148:R423C	R	-	1	0	DET1	86871838	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.036000	0.76524	2.683000	0.91414	0.655000	0.94253	CGC		0.443	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		4	229	0	0	0	1	0	4	229					A	89070834	G	A	89070834	3	1	99	1	0	0	0	0	1	0	0	0	4466	1087	38	1	397	1	DET1	15	89070834	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	2783818	89070834	13460558	116	34712											
LRRK1	79705	broad.mit.edu	37	chr15	101586241	101586241	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggacacccacggtatgCggcaccccacagccaacacc	9	19	0	0	rs370459525		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr15:101586241C>T	ENST00000388948.3	+	21	3378	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	LRRK1_ENST00000284395.5_Missense_Mutation_p.R1004W|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCACGGTATGCGGCACCCCAC	0.562																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3010-3012)Cgg>Tgg		leucine-rich repeat kinase 1		C	TRP/ARG	5,4081		0,5,2038	114	122	119		3019	5.6	1	15		119	0,8356		0,0,4178	no	missense	LRRK1	NM_024652.3	101	0,5,6216	TT,TC,CC		0.0,0.1224,0.0402	probably-damaging	1007/2016	101586241	5,12437	2043	4178	6221	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101586241C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3019C>T	15.37:g.101586241C>T	ENSP00000373600:p.Arg1007Trp					RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.R1007W	p.R1004W			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		22	3410	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1007						Missense_Mutation	SNP	ENST00000388948.3	37	c.3010C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952657	0.92660	0.001224	0.0	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.73152	-0.69;-0.72	5.58	5.58	0.84498	.	0.060599	0.64402	D	0.000003	T	0.72969	0.3527	L	0.55481	1.735	0.46185	D	0.998919	D	0.76494	0.999	P	0.50490	0.642	T	0.75634	-0.3250	10	0.66056	D	0.02	.	13.6371	0.62229	0.0:0.9197:0.0:0.0803	.	1007	Q38SD2	LRRK1_HUMAN	W	1007;1004	ENSP00000373600:R1007W;ENSP00000284395:R1004W	ENSP00000284395:R1004W	R	+	1	2	LRRK1	99403764	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.715000	0.54897	2.769000	0.95229	0.655000	0.94253	CGG		0.562	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		5	461	0	0	0	1	0	5	461					T	101586241	C	T	101586241	3	4	99	1	0	0	0	0	1	0	0	0	9070	759	27	1	3097	1	LRRK1	15	101586241	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	12515407	101586241	945151	117	34713											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000563498.1_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	665						7	665	---	---	---	---	-	1824300	TGC	-	1824298	7	5	99	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-IB-AAUU-01A-11D-A377-08		1824298	88530455	118	34714											
BTBD12	84464	broad.mit.edu	37	chr16	3652237	3652237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgccgatgctcctacccGtgcaaactcctgctgcaggg	11	14	0	0	rs141597706		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:3652237G>A	ENST00000294008.3	-	4	1472	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	278	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.R278W(1)		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						GCTCCTACCCGTGCAAACTCC	0.562								Direct reversal of damage					G|||	1	0.000199681	0.0	0.0014	5008	,	,		19986	0.0		0.0	False		,,,				2504	0.0					ENST00000294008.3																			1	Substitution - Missense(1)	p.R278W(1)	prostate(1)	breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(832-834)Cgg>Tgg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		G	TRP/ARG	2,4392	4.2+/-10.8	0,2,2195	117	106	110		832	4.8	0.2	16	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLX4	NM_032444.2	101	0,3,6494	AA,AG,GG		0.0116,0.0455,0.0231	probably-damaging	278/1835	3652237	3,12991	2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3652237G>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.832C>T	16.37:g.3652237G>A	ENSP00000294008:p.Arg278Trp						p.R278W	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			4	1472	-			278			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.832C>T	CCDS10506.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.09	2.731181	0.48939	4.55E-4	1.16E-4	ENSG00000188827	ENST00000294008	T	0.01406	4.93	5.83	4.85	0.62838	.	0.801221	0.11740	N	0.534142	T	0.03178	0.0093	L	0.39898	1.24	0.09310	N	1	D	0.69078	0.997	P	0.50490	0.642	T	0.50145	-0.8862	10	0.72032	D	0.01	.	12.7343	0.57214	0.0:0.0:0.6469:0.3531	.	278	Q8IY92	SLX4_HUMAN	W	278	ENSP00000294008:R278W	ENSP00000294008:R278W	R	-	1	2	SLX4	3592238	0.154000	0.22792	0.182000	0.23118	0.268000	0.26511	1.037000	0.30241	1.377000	0.46286	0.655000	0.94253	CGG		0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		5	600	0	0	0	1	0	5	600					A	3652237	G	A	3652237	3	1	99	1	0	0	0	0	1	0	0	0	1544	1144	40	1	4720	1	BTBD12	16	3652237	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1827939	3652237	86702516	119	34715											
FAM86A	196483	broad.mit.edu	37	chr16	5135684	5135684	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgctcttcgtagggaaaCagtttctgctcatgacgagg	12	8	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:5135684C>T	ENST00000427587.4	-	8	1010	c.942G>A	c.(940-942)ctG>ctA	p.L314L	FAM86A_ENST00000458008.4_Silent_p.L280L|FAM86A_ENST00000587133.1_Silent_p.L253L|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	314						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(940-942)ctG>ctA		family with sequence similarity 86, member A							155	141	146					16																	5135684		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5135684C>T	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.942G>A	16.37:g.5135684C>T						FAM86A_ENST00000587133.1_Silent_p.L253L|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Silent_p.L280L	p.L314L	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	1010	-			314					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.942G>A	CCDS10529.1																																																																																				0.527	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		6	657	0	0	0	1	0	6	657					T	5135684	C	T	5135684	2	4	99	1	0	0	0	0	0	0	0	1	5668	465	17	2		2	FAM86A	16	5135684	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	1483447	5135684	85219069	120	34716											
SLC12A3	6559	broad.mit.edu	37	chr16	56920974	56920974	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatgtcattgccgaggAcctccgcagaggcgtccaga	13	13	1	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:56920974A>G	ENST00000563236.1	+	17	2172	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	SLC12A3_ENST00000438926.2_Missense_Mutation_p.D716G|SLC12A3_ENST00000566786.1_Missense_Mutation_p.D715G|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D715G			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	716					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)	ATTGCCGAGGACCTCCGCAGA	0.582																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2146-2148)gAc>gGc		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						92	80	84					16																	56920974		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56920974A>G		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.2147A>G	16.37:g.56920974A>G	ENSP00000456149:p.Asp716Gly					SLC12A3_ENST00000566786.1_Missense_Mutation_p.D715G|SLC12A3_ENST00000563236.1_Missense_Mutation_p.D716G|SLC12A3_ENST00000262502.5_Missense_Mutation_p.D715G	p.D716G	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			17	2176	+			716					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2147A>G	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.675396	0.47781	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.66	5.66	0.87406	.	0.153400	0.56097	D	0.000024	T	0.65575	0.2704	M	0.68317	2.08	0.80722	D	1	B;B;B	0.27910	0.193;0.006;0.011	B;B;B	0.34346	0.18;0.017;0.034	T	0.65598	-0.6129	9	0.52906	T	0.07	.	15.9025	0.79392	1.0:0.0:0.0:0.0	.	715;716;716	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	G	715;716	.	ENSP00000262502:D716G	D	+	2	0	SLC12A3	55478475	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.121000	0.71602	2.155000	0.67459	0.450000	0.29827	GAC		0.582	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			24	256	0	0	0	1	0	24	256					G	56920974	A	G	56920974	3	3	99	1	0	0	0	0	1	0	0	0	14434	275	10	4	2213	4	SLC12A3	16	56920974	Missense_Mutation	SNP	A	TCGA-IB-AAUU-01A-11D-A377-08	51785290	56920974	33433779	121	34717											
HYDIN	54768	broad.mit.edu	37	chr16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgatgtagatatacgCggtggtgggcctccctttca	12	10	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:70908762C>T	ENST00000393567.2	-	63	10768	c.10618G>A	c.(10618-10620)Gcg>Acg	p.A3540T	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3540					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)				TAGATATACGCGGTGGTGGGC	0.507																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(10618-10620)Gcg>Acg		HYDIN, axonemal central pair apparatus protein							60	56	57					16																	70908762		1869	4102	5971	SO:0001583	missense	54768							g.chr16:70908762C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10618G>A	16.37:g.70908762C>T	ENSP00000377197:p.Ala3540Thr						p.A3540T	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			63	10768	-		Ovarian(137;0.0654)	3540					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.10618G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	2.768	-0.256259	0.05829	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	4.66	0.836	0.18891	.	0.563128	0.13263	U	0.401146	T	0.00440	0.0014	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.51028	-0.8757	10	0.17832	T	0.49	.	0.1104	0.00055	0.365:0.2089:0.1834:0.2427	.	3539	F8WD23	.	T	3540;3539	ENSP00000377197:A3540T	ENSP00000313052:A3539T	A	-	1	0	HYDIN	69466263	0.999000	0.42202	0.992000	0.48379	0.039000	0.13416	0.722000	0.25925	0.614000	0.30107	-0.463000	0.05309	GCG		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			30	90	0	0	0	1	0	30	90					T	70908762	C	T	70908762	3	4	99	1	0	0	0	0	1	0	0	0	7497	768	27	1	4843	1	HYDIN	16	70908762	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	13987788	70908762	19445991	122	34718											
IRF8	3394	broad.mit.edu	37	chr16	85946826	85946826	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttccagactggtgggcGcagcagcccagcacaggtga	13	14	0	2	rs146360039		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr16:85946826G>A	ENST00000268638.5	+	5	959	c.537G>A	c.(535-537)gcG>gcA	p.A179A	IRF8_ENST00000562492.1_5'Flank	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	179					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACTGGTGGGCGCAGCAGCCCA	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18026	0.0		0.0	False		,,,				2504	0.0					ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(535-537)gcG>gcA		interferon regulatory factor 8		G		8,4388	14.3+/-33.2	0,8,2190	65	69	68		537	-3.1	0.1	16	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IRF8	NM_002163.2		0,9,6489	AA,AG,GG		0.0116,0.182,0.0693		179/427	85946826	9,12987	2198	4300	6498	SO:0001819	synonymous_variant	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85946826G>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.537G>A	16.37:g.85946826G>A							p.A179A	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			5	959	+		Prostate(104;0.0771)	179					A0AV82	Silent	SNP	ENST00000268638.5	37	c.537G>A	CCDS10956.1																																																																																				0.617	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		6	399	0	0	0	1	0	6	399					A	85946826	G	A	85946826	2	1	99	1	0	0	0	0	0	0	0	1	7866	1074	38	1		1	IRF8	16	85946826	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	15038064	85946826	4407927	123	34719											
TP53	7157	broad.mit.edu	37	chr17	7579320	7579321	+	Frame_Shift_Ins	INS	-	-	C													gggcaactgaccgtgcaagtINScacagacttggctgtcccag					rs587780067		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7579320_7579321insC	ENST00000269305.4	-	4	555_556	c.366_367insG	c.(364-369)gtgactfs	p.T123fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.T123fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.T123fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.T123fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	123	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> I (in a sporadic cancer; somatic mutation).|T -> N (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCGTGCAAGTCACAGACTTGG	0.55		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		24	Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(2)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|breast(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|stomach(1)|liver(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(364-369)gtcttgfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579320_7579321insC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.367dupG	17.37:g.7579321_7579321dupC	ENSP00000269305:p.Thr123fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.VL122fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.VL122fs	p.VL122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	498_499	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	122		V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.366_367insG	CCDS11118.1																																																																																				0.55	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		58	228						58	228	---	---	---	---	C	7579321	-	C	7579320	7	5	99	1	0	1	1	0	0	0	0	0	16434	1667	58	0	935	0	TP53	17	7579320	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08		7579320	73615890	124	34720											
DNAH2	146754	broad.mit.edu	37	chr17	7727588	7727588	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccagggccaggcccccatCgctgctcggctcctccgaga	13	18	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:7727588C>T	ENST00000572933.1	+	76	13088	c.11628C>T	c.(11626-11628)atC>atT	p.I3876I	DNAH2_ENST00000389173.2_Silent_p.I3876I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3876	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)				AGGCCCCCATCGCTGCTCGGC	0.652																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(11626-11628)atC>atT		dynein, axonemal, heavy chain 2							36	35	35					17																	7727588		2203	4299	6502	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7727588C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11628C>T	17.37:g.7727588C>T						DNAH2_ENST00000389173.2_Silent_p.I3876I	p.I3876I			Q9P225	DYH2_HUMAN			76	13088	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3876			AAA 6 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.11628C>T	CCDS32551.1																																																																																				0.652	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		23	113	0	0	0	1	0	23	113					T	7727588	C	T	7727588	2	4	99	1	0	0	0	0	0	0	0	1	4618	874	31	1		1	DNAH2	17	7727588	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	148268	7727588	73467622	125	34721											
ATAD5	79915	broad.mit.edu	37	chr17	29220776	29220776	+	Frame_Shift_Del	DEL	A	A	-													cctcctaaaacaactgcaggAaaaaaatgttctgcccttgt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:29220776delA	ENST00000321990.4	+	21	5283	c.4905delA	c.(4903-4905)ggafs	p.G1635fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1635					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)				CAACTGCAGGAAAAAAATGTT	0.383																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4903-4905)ggfs		ATPase family, AAA domain containing 5							117	130	126					17																	29220776		2203	4300	6503	SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220776delA		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.4905delA	17.37:g.29220776delA	ENSP00000313171:p.Gly1635fs						p.G1635fs	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	5283	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1635					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.4905delA	CCDS11260.1																																																																																				0.383	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		7	868						7	868	---	---	---	---	-	29220776	A	-	29220776	7	5	99	1	0	1	0	1	0	0	0	0	1077	233	9	0	4987	0	ATAD5	17	29220776	Frame_Shift_Del	DEL	A	TCGA-IB-AAUU-01A-11D-A377-08	21493188	29220776	51974434	126	34722											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					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)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	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.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		8	202						8	202	---	---	---	---	-	34071996	TCC	-	34071994	7	5	99	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-IB-AAUU-01A-11D-A377-08	4851218	34071994	47123216	127	34723											
COASY	80347	broad.mit.edu	37	chr17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatgttcacctgcagccggGcatgagcctggagggcccgg	15	13	1	1	rs368532520		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000449624.1_Intron	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					cell death (GO:0008219)|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)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(130-132)gGc>gAc		CoA synthase		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,	2,4402		0,2,2200	37	47	44		131,131,218,131,	4.9	1	17		44	0,8592		0,0,4296	no	missense,missense,missense,missense,intron	COASY	NM_001042529.1,NM_001042530.1,NM_001042532.2,NM_025233.5,NM_001042531.1	94,94,94,94,	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	44/565,44/565,73/594,44/565,	40714771	2,12994	2202	4296	6498	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40714771G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.131G>A	17.37:g.40714771G>A	ENSP00000377406:p.Gly44Asp					COASY_ENST00000420359.1_Missense_Mutation_p.G44D|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D	p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	1	587	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	44					B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.131G>A	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783426	0.70222	4.54E-4	0.0	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33438	1.41;1.41	5.84	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.24736	0.0600	L	0.32530	0.975	0.80722	D	1	P;B	0.41041	0.736;0.043	B;B	0.38500	0.275;0.024	T	0.03068	-1.1076	10	0.48119	T	0.1	-18.0729	12.532	0.56120	0.0803:0.0:0.9197:0.0	.	73;44	Q13057-2;Q13057	.;COASY_HUMAN	D	73;44;44;44	ENSP00000413338:G44D;ENSP00000377406:G44D	ENSP00000377406:G44D	G	+	2	0	COASY	37968297	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	6.902000	0.75699	1.483000	0.48342	0.561000	0.74099	GGC		0.662	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		6	501	0	0	0	1	0	6	501					A	40714771	G	A	40714771	3	1	99	1	0	0	0	0	1	0	0	0	3661	1203	42	2	224	2	COASY	17	40714771	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	6642777	40714771	40480439	128	34724											
DHX8	1659	broad.mit.edu	37	chr17	41570293	41570293	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcggaatctggatagatggCgggataagcatgtggaccgc	16	7	1	1	rs146727331	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:41570293C>T	ENST00000262415.3	+	6	820	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	DHX8_ENST00000540306.1_Missense_Mutation_p.R250W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	250					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)		GGATAGATGGCGGGATAAGCA	0.507																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				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						c.(748-750)Cgg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 8		C	TRP/ARG	0,4406		0,0,2203	106	107	107		748	0.8	1	17	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DHX8	NM_004941.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	250/1221	41570293	1,13005	2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41570293C>T	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.748C>T	17.37:g.41570293C>T	ENSP00000262415:p.Arg250Trp					DHX8_ENST00000540306.1_Missense_Mutation_p.R250W	p.R250W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	6	820	+		Breast(137;0.00908)	250						Missense_Mutation	SNP	ENST00000262415.3	37	c.748C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901639	0.52227	0.0	1.16E-4	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.56611	0.45;0.45	5.33	0.831	0.18860	.	0.131203	0.50627	D	0.000103	T	0.35128	0.0921	N	0.08118	0	0.47183	D	0.999343	D;D	0.69078	0.997;0.995	P;P	0.51657	0.627;0.676	T	0.20672	-1.0268	10	0.59425	D	0.04	.	4.9162	0.13847	0.4807:0.3354:0.1111:0.0729	.	250;250	F5H658;Q14562	.;DHX8_HUMAN	W	250	ENSP00000437886:R250W;ENSP00000262415:R250W	ENSP00000262415:R250W	R	+	1	2	DHX8	38925819	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.269000	0.51592	0.205000	0.20568	-0.293000	0.09583	CGG		0.507	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			117	336	0	0	0	1	0	117	336					T	41570293	C	T	41570293	3	4	99	1	0	0	0	0	1	0	0	0	4531	759	27	1	770	1	DHX8	17	41570293	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	855522	41570293	39624917	129	34725											
HOXB2	3212	broad.mit.edu	37	chr17	46620492	46620492	+	Frame_Shift_Del	DEL	A	A	-													aaaatccagctcttcctcggAaaaagggaccgggctgtcga					rs113828741		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:46620492delA	ENST00000330070.4	-	2	2176	c.1009delT	c.(1009-1011)tccfs	p.S337fs	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB2_ENST00000504772.3_5'UTR|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	337					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						TCTTCCTCGGAAAAAGGGACC	0.597																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(1009-1011)ccfs		homeobox B2							80	83	82					17																	46620492		2203	4300	6503	SO:0001589	frameshift_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620492delA		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.1009delT	17.37:g.46620492delA	ENSP00000331741:p.Ser337fs					HOXB2_ENST00000504772.3_5'UTR	p.S337fs	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			2	2176	-			337					P10913|P17485	Frame_Shift_Del	DEL	ENST00000330070.4	37	c.1009delT	CCDS11527.1																																																																																				0.597	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			8	1122						8	1122	---	---	---	---	-	46620492	A	-	46620492	7	5	99	1	0	1	0	1	0	0	0	0	7331	246	9	0	65	0	HOXB2	17	46620492	Frame_Shift_Del	DEL	A	TCGA-IB-AAUU-01A-11D-A377-08	5050199	46620492	34574718	130	34726											
TANC2	26115	broad.mit.edu	37	chr17	61483573	61483573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggcagacaagcagggccGcactcccctgatgatggctg	13	13	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr17:61483573G>A	ENST00000424789.2	+	19	3306	c.3302G>A	c.(3301-3303)cGc>cAc	p.R1101H	TANC2_ENST00000389520.4_Missense_Mutation_p.R1101H|AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1101					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						AAGCAGGGCCGCACTCCCCTG	0.512											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(3301-3303)cGc>cAc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							114	112	113					17																	61483573		1972	4167	6139	SO:0001583	missense	26115						binding	g.chr17:61483573G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3302G>A	17.37:g.61483573G>A	ENSP00000387593:p.Arg1101His		OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1101H	p.R1101H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			19	3306	+			1101					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.3302G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398436	0.96030	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66280	-0.2;-0.2	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.055575	0.64402	D	0.000001	T	0.76357	0.3976	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.77368	-0.2614	10	0.66056	D	0.02	.	19.3674	0.94469	0.0:0.0:1.0:0.0	.	1101;1101	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	1101	ENSP00000374171:R1101H;ENSP00000387593:R1101H	ENSP00000374171:R1101H	R	+	2	0	TANC2	58837305	1.000000	0.71417	0.966000	0.40874	0.973000	0.67179	9.810000	0.99221	2.587000	0.87381	0.462000	0.41574	CGC		0.512	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			5	474	0	0	0	1	0	5	474					A	61483573	G	A	61483573	3	1	99	1	0	0	0	0	1	0	0	0	15597	1087	38	1	3376	1	TANC2	17	61483573	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	14863081	61483573	19711637	131	34727											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt					rs370244500		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					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)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				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						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	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.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	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)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.46	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		14	713						14	713	---	---	---	---	T	21745097	-	T	21745096	7	5	99	1	0	1	1	0	0	0	0	0	11319	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08		21745096	56332152	132	34728											
HMG20B	10362	broad.mit.edu	37	chr19	3574395	3574395	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagccggtgaagaaacgCggctggcccaagggcaagaa	15	11	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:3574395C>T	ENST00000333651.6	+	4	237	c.162C>T	c.(160-162)cgC>cgT	p.R54R	MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	54					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)		TGAAGAAACGCGGCTGGCCCA	0.672																																						ENST00000333651.6																			0				cervix(1)	1						c.(160-162)cgC>cgT		high mobility group 20B							11	12	12					19																	3574395		1887	4075	5962	SO:0001819	synonymous_variant	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3574395C>T	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.162C>T	19.37:g.3574395C>T							p.R54R	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	237	+		Hepatocellular(1079;0.137)	54					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Silent	SNP	ENST00000333651.6	37	c.162C>T	CCDS45919.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159407	0.38119	.	.	ENSG00000064961	ENST00000262949	.	.	.	4.03	-8.05	0.01106	.	0.000000	0.64402	U	0.000001	T	0.49745	0.1575	.	.	.	0.58432	D	0.999991	.	.	.	.	.	.	T	0.62067	-0.6932	6	0.72032	D	0.01	-7.5678	2.2814	0.04115	0.4628:0.0954:0.2597:0.182	.	.	.	.	W	59	.	ENSP00000262949:R59W	R	+	1	2	HMG20B	3525395	0.000000	0.05858	0.325000	0.25375	0.925000	0.55904	-2.871000	0.00720	-3.088000	0.00248	0.491000	0.48974	CGG		0.672	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339		10	32	0	0	0	1	0	10	32					T	3574395	C	T	3574395	2	4	99	1	0	0	0	0	0	0	0	1	7252	755	27	1		1	HMG20B	19	3574395	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		3574395	55554588	133	34729											
ZNF700	90592	broad.mit.edu	37	chr19	12060731	12060731	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atgtgggaaagccttcagatCtgcctcaaaccttcagatgc	9	11	4	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:12060731C>T	ENST00000254321.5	+	4	2035	c.1892C>T	c.(1891-1893)tCt>tTt	p.S631F	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.S613F|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	631					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						GCCTTCAGATCTGCCTCAAAC	0.438																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1837-1839)tCt>tTt		zinc finger protein 700							84	83	83					19																	12060731		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060731C>T	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.1892C>T	19.37:g.12060731C>T	ENSP00000254321:p.Ser631Phe					ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S631F|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron	p.S613F			Q9H0M5	ZN700_HUMAN			3	2256	+			631					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1838C>T	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.399	-0.919390	0.02396	.	.	ENSG00000196757	ENST00000254321	T	0.03580	3.88	0.563	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09024	0.0223	M	0.62723	1.935	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.24512	-1.0158	9	0.10636	T	0.68	.	7.1331	0.25512	0.0:0.7162:0.2837:0.0	.	631	Q9H0M5	ZN700_HUMAN	F	631	ENSP00000254321:S631F	ENSP00000254321:S631F	S	+	2	0	ZNF700	11921731	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.497000	0.02289	-0.437000	0.07243	0.313000	0.20887	TCT		0.438	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		73	343	0	0	0	1	0	73	343					T	12060731	C	T	12060731	3	4	99	1	0	0	0	0	1	0	0	0	18157	913	32	2	1906	2	ZNF700	19	12060731	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	8486336	12060731	47068252	134	34730											
CACNA1A	773	broad.mit.edu	37	chr19	13414635	13414635	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacaccatgccgccctGcacgcccccctgagacttga	10	17	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:13414635G>A	ENST00000360228.5	-	16	2049	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q685*	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	685					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)	ATGCCGCCCTGCACGCCCCCC	0.562																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2050-2052)Cag>Tag		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						172	178	176					19																	13414635		2036	4180	6216	SO:0001587	stop_gained	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13414635G>A	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.2050C>T	19.37:g.13414635G>A	ENSP00000353362:p.Gln684*					CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.Q685*	p.Q684*	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	2049	-			685					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	ENST00000360228.5	37	c.2050C>T	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	42	9.180962	0.99092	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	4.58	3.49	0.39957	.	0.154656	0.41605	D	0.000849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7798	0.23640	0.0:0.1525:0.5412:0.3063	.	.	.	.	X	684;685;685;685	.	ENSP00000317661:Q685X	Q	-	1	0	CACNA1A	13275635	0.706000	0.27856	1.000000	0.80357	0.915000	0.54546	2.132000	0.42083	2.371000	0.80710	0.591000	0.81541	CAG		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		7	724	0	0	0	1	0	7	724					A	13414635	G	A	13414635	4	1	99	1	0	0	0	0	0	1	0	0	2545	1328	46	2	5709	2	CACNA1A	19	13414635	Nonsense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	1353904	13414635	45714348	135	34731											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941582	13941583	+	Frame_Shift_Ins	INS	-	-	G													cgcccggtctgggccccttaINSggggcacgccgggccgccaa							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:13941582_13941583insG	ENST00000254323.2	+	13	2877_2878	c.2688_2689insG	c.(2689-2691)gggfs	p.G897fs	ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.G731fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	897							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)			TGGGCCCCTTAGGGGCACGCCG	0.693																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2686-2691)ttgggcfs		zinc finger, SWIM-type containing 4																																				SO:0001589	frameshift_variant	65249						zinc ion binding	g.chr19:13941582_13941583insG	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.2692dupG	19.37:g.13941586_13941586dupG	ENSP00000254323:p.Gly897fs					ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.LG730fs	p.LG896fs	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2877_2878	+			896						Frame_Shift_Ins	INS	ENST00000254323.2	37	c.2688_2689insG	CCDS32924.1																																																																																				0.693	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		25	339						25	339	---	---	---	---	G	13941583	-	G	13941582	7	5	99	1	0	1	1	0	0	0	0	0	18296	417	15	0	2738	0	ZSWIM4	19	13941582	Frame_Shift_Ins	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	526947	13941582	45187401	136	34732											
ZNF43	7594	broad.mit.edu	37	chr19	22002025	22002026	+	Splice_Site	INS	-	-	A													cataaatgtcaatggtccctINSaaaaaaaacaacacatacac							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:22002025_22002026insA	ENST00000354959.4	-	2	173		c.e2-2		ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000594012.1_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACAA	0.386																																						ENST00000594012.1																			1	Unknown(1)	p.?(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.e5-2		zinc finger protein 43																																				SO:0001630	splice_region_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22002025_22002026insA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.4-2->T	19.37:g.22002033_22002033dupA						ZNF43_ENST00000354959.4_Splice_Site|ZNF43_ENST00000598288.1_Splice_Site|ZNF43_ENST00000598381.1_Splice_Site|ZNF43_ENST00000595461.1_Splice_Site		NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	5	500	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)						A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Splice_Site	INS	ENST00000354959.4	37		CCDS12413.2																																																																																				0.386	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	Intron	7	523						7	523	---	---	---	---	A	22002026	-	A	22002025	8	5	99	1	0	1	1	0	0	0	1	0	17956	1536	53	0	2439	0	ZNF43	19	22002025	Splice_Site	INS	-	TCGA-IB-AAUU-01A-11D-A377-08	8060443	22002025	37126958	137	34733											
ZNF566	84924	broad.mit.edu	37	chr19	36940853	36940853	+	Frame_Shift_Del	DEL	A	A	-													ctgggttgattctatttcatAaatttctttcttcagaaata							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:36940853delA	ENST00000434377.2	-	5	364	c.283delT	c.(283-285)tatfs	p.Y95fs	ZNF566_ENST00000454319.1_Frame_Shift_Del_p.Y96fs|ZNF566_ENST00000392170.2_Frame_Shift_Del_p.Y96fs|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000424129.2_Frame_Shift_Del_p.Y95fs	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCTATTTCATAAATTTCTTTC	0.348																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(286-288)atfs		zinc finger protein 566							71	78	76					19																	36940853		2203	4300	6503	SO:0001589	frameshift_variant	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36940853delA	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.283delT	19.37:g.36940853delA	ENSP00000415520:p.Tyr95fs					ZNF566_ENST00000392170.2_Frame_Shift_Del_p.Y96fs|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000434377.2_Frame_Shift_Del_p.Y95fs|ZNF566_ENST00000424129.2_Frame_Shift_Del_p.Y95fs	p.Y96fs	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			5	420	-	Esophageal squamous(110;0.162)		95					B7ZL95|Q2M3J1	Frame_Shift_Del	DEL	ENST00000434377.2	37	c.286delT	CCDS12494.1																																																																																				0.348	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		103	804						103	804	---	---	---	---	-	36940853	A	-	36940853	7	5	99	1	0	1	0	1	0	0	0	0	18050	362	13	0	977	0	ZNF566	19	36940853	Frame_Shift_Del	DEL	A	TCGA-IB-AAUU-01A-11D-A377-08	14938828	36940853	22188130	138	34734											
FAM98C	147965	broad.mit.edu	37	chr19	38899416	38899416	+	Frame_Shift_Del	DEL	G	G	-													tatgggcaacgttccagaccGggggggccgcccaaatgagc					rs375320861		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:38899416delG	ENST00000252530.5	+	8	963	c.944delG	c.(943-945)cggfs	p.R315fs	FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs|FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562																																						ENST00000252530.5																			1	Substitution - Missense(1)	p.R315L(1)	lung(1)	endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(943-945)cgfs		family with sequence similarity 98, member C				4,25,3497		0,0,4,12,1,1746	57	62	61			4.8	1	19		62	10,59,7735		0,0,10,27,5,3860	no	codingComplex	FAM98C	NM_174905.3		0,0,14,39,6,5606	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8842,0.8225,0.865			38899416	14,84,11232	1832	4072	5904	SO:0001589	frameshift_variant	147965							g.chr19:38899416delG		CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.944delG	19.37:g.38899416delG	ENSP00000252530:p.Arg315fs					FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs|FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs	p.R315fs	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	963	+	all_cancers(60;3.95e-06)		315					A6NMW3|Q66K45	Frame_Shift_Del	DEL	ENST00000252530.5	37	c.944delG	CCDS42562.1																																																																																				0.562	FAM98C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459222.1	NM_174905		8	907						8	907	---	---	---	---	-	38899416	G	-	38899416	7	5	99	1	0	1	0	1	0	0	0	0	5683	1116	39	0	974	0	FAM98C	19	38899416	Frame_Shift_Del	DEL	G	TCGA-IB-AAUU-01A-11D-A377-08	1958563	38899416	20229567	139	34735											
IL29	282618	broad.mit.edu	37	chr19	39787103	39787117	+	In_Frame_Del	DEL	AGGCTTGGCCGTGGC	AGGCTTGGCCGTGGC	-													gtgctggtgactttggtgctAggcttggccgtggcaggccc					rs544737421|rs559530319	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:39787103_39787117delAGGCTTGGCCGTGGC	ENST00000333625.2	+	1	139_153	c.42_56delAGGCTTGGCCGTGGC	c.(40-57)ctaggcttggccgtggca>cta	p.GLAVA15del		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	15					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)										CTTTGGTGCTAGGCTTGGCCGTGGCAGGCCCTGTC	0.577																																						ENST00000333625.2																			0											c.(40-57)cta>ct		interferon, lambda 1																																				SO:0001651	inframe_deletion	282618							g.chr19:39787103_39787117delAGGCTTGGCCGTGGC	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"Interferons"	18363	protein-coding gene	gene with protein product		607403	"interleukin 29", "interleukin 29 (interferon, lambda 1)"	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.42_56delAGGCTTGGCCGTGGC	19.37:g.39787103_39787117delAGGCTTGGCCGTGGC	ENSP00000329991:p.Gly15_Ala19del						p.LGLAVA14del	NM_172140.1	NP_742152.1					1	139_153	+								A0AV25|Q17R34	In_Frame_Del	DEL	ENST00000333625.2	37	c.42_56delAGGCTTGGCCGTGGC	CCDS12531.1																																																																																				0.577	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		29	710						29	710	---	---	---	---	-	39787117	AGGCTTGGCCGTGGC	-	39787103	7	5	99	1	0	1	0	1	0	0	0	0	7715	407	15	0	44	0	IL29	19	39787103	In_Frame_Del	DEL	AGGCTTGGCCGTGGC	TCGA-IB-AAUU-01A-11D-A377-08	887687	39787103	19341880	140	34736											
PSG6	5675	broad.mit.edu	37	chr19	43420517	43420517	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaccagatgtagccagTaagattctggggcaaattgt	11	6	1	2	rs140507212		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:43420517T>C	ENST00000292125.2	-	2	231	c.187A>G	c.(187-189)Act>Gct	p.T63A	PSG6_ENST00000187910.2_Missense_Mutation_p.T63A|PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000402603.4_Missense_Mutation_p.T63A	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	63	Ig-like V-type.				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)				ATGTAGCCAGTAAGATTCTGG	0.463																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(187-189)Act>Gct		pregnancy specific beta-1-glycoprotein 6							216	215	215					19																	43420517		2202	4299	6501	SO:0001583	missense	5675							g.chr19:43420517T>C		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.187A>G	19.37:g.43420517T>C	ENSP00000292125:p.Thr63Ala					PSG6_ENST00000601833.1_5'UTR|PSG6_ENST00000402603.4_Missense_Mutation_p.T63A|PSG6_ENST00000292125.2_Missense_Mutation_p.T63A	p.T63A	NM_001031850.3	NP_001027020.1					2	252	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.187A>G	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.914902	0.00503	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.01464	4.86;4.86;4.86	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00784	0.0026	N	0.11651	0.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.002;0.001;0.006	T	0.46020	-0.9221	9	0.05959	T	0.93	.	0.9301	0.01333	0.2963:0.2272:0.3254:0.1511	.	63;63;63	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	A	63	ENSP00000187910:T63A;ENSP00000385736:T63A;ENSP00000292125:T63A	ENSP00000187910:T63A	T	-	1	0	PSG6	48112357	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.985000	0.00163	-2.639000	0.00430	-1.366000	0.01203	ACT		0.463	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		7	1308	0	0	0	1	0	7	1308					C	43420517	T	C	43420517	3	2	99	1	0	0	0	0	1	0	0	0	12706	1638	57	4	1179	4	PSG6	19	43420517	Missense_Mutation	SNP	T	TCGA-IB-AAUU-01A-11D-A377-08	3633414	43420517	15708466	141	34737											
ERCC2	2068	broad.mit.edu	37	chr19	45867502	45867502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccggccccacctgagcaccGtcttctgcagggtctccagg	11	18	3	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:45867502G>A	ENST00000391945.4	-	9	883	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.T191M|ERCC2_ENST00000485403.2_Missense_Mutation_p.T245M|ERCC2_ENST00000391940.4_Missense_Mutation_p.T245M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	269	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)		CCTGAGCACCGTCTTCTGCAG	0.692			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000391945.4			yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"Mis, N, F, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"			E		"skin basal cell, skin squamous cell, melanoma"			0				large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9						c.(805-807)aCg>aTg	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 2							34	36	36					19																	45867502		2202	4298	6500	SO:0001583	missense	2068	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867502G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.806C>T	19.37:g.45867502G>A	ENSP00000375809:p.Thr269Met					ERCC2_ENST00000485403.2_Missense_Mutation_p.T245M|ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.T191M|ERCC2_ENST00000391940.4_Missense_Mutation_p.T245M	p.T269M	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	9	883	-		Ovarian(192;0.0728)|all_neural(266;0.112)	269			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.806C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485655	0.63962	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.63913	-0.07;-0.07;-0.07	4.72	4.72	0.59763	Helicase-like, DEXD box c2 type (1);Domain of unknown function DUF1227 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.359147	0.31071	N	0.008304	T	0.71091	0.3299	M	0.72118	2.19	0.80722	D	1	P;P;B	0.47841	0.468;0.901;0.04	B;P;B	0.51487	0.376;0.671;0.264	T	0.74748	-0.3560	10	0.59425	D	0.04	-24.3907	15.5543	0.76180	0.0:0.0:1.0:0.0	.	191;245;269	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	M	219;245;269;191;245	ENSP00000375809:T269M;ENSP00000375808:T191M;ENSP00000375804:T245M	ENSP00000375804:T245M	T	-	2	0	ERCC2	50559342	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	4.390000	0.59646	2.601000	0.87937	0.561000	0.74099	ACG		0.692	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		45	271	0	0	0	1	0	45	271					A	45867502	G	A	45867502	3	1	99	1	0	0	0	0	1	0	0	0	5231	1145	40	1	1593	1	ERCC2	19	45867502	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	2446985	45867502	13261481	142	34738											
ZC3H4	23211	broad.mit.edu	37	chr19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-													tcagccagcctcctcgctctCtcctcctcctcctgctgctt							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.7	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	695						7	695	---	---	---	---	-	47572403	CTC	-	47572401	7	5	99	1	0	1	0	1	0	0	0	0	17623	912	32	0	1573	0	ZC3H4	19	47572401	In_Frame_Del	DEL	CTC	TCGA-IB-AAUU-01A-11D-A377-08	1704899	47572401	11556582	143	34739											
KLK4	9622	broad.mit.edu	37	chr19	51411880	51411880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgaggcaagagttccccgCggtagggcactgcgaagcaa	14	11	0	1	rs530069905	byFrequency	TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr19:51411880C>T	ENST00000324041.1	-	3	429	c.430G>A	c.(430-432)Gcg>Acg	p.A144T	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Missense_Mutation_p.A95T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)		GAGTTCCCCGCGGTAGGGCAC	0.602																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.(430-432)Gcg>Acg		kallikrein-related peptidase 4							102	79	87					19																	51411880		2203	4300	6503	SO:0001583	missense	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51411880C>T	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.430G>A	19.37:g.51411880C>T	ENSP00000326159:p.Ala144Thr					KLK4_ENST00000431178.2_Missense_Mutation_p.A95T	p.A144T	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	3	429	-		all_neural(266;0.026)	144			Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	ENST00000324041.1	37	c.430G>A	CCDS12809.1	.	.	.	.	.	.	.	.	.	.	c	6.881	0.532035	0.13127	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.89415	-2.51;-2.51	3.99	-7.97	0.01139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.234540	0.06113	N	0.667494	T	0.76307	0.3969	N	0.25201	0.72	0.09310	N	1	B;B	0.33964	0.434;0.248	B;B	0.27076	0.076;0.012	T	0.68296	-0.5446	10	0.41790	T	0.15	.	8.5105	0.33215	0.171:0.1988:0.5598:0.0703	.	95;144	Q96JD7;Q9Y5K2	.;KLK4_HUMAN	T	144;95	ENSP00000326159:A144T;ENSP00000399448:A95T	ENSP00000326159:A144T	A	-	1	0	KLK4	56103692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.743000	0.00797	-2.474000	0.00527	-1.157000	0.01802	GCG		0.602	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		5	220	0	0	0	1	0	5	220					T	51411880	C	T	51411880	3	4	99	1	0	0	0	0	1	0	0	0	8436	768	27	1	346	1	KLK4	19	51411880	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	3839479	51411880	7717103	144	34740											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				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						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		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.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			8	501						8	501	---	---	---	---	-	25657232	TG	-	25657231	7	5	99	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-IB-AAUU-01A-11D-A377-08		25657231	37368289	145	34741											
C20orf117	140710	broad.mit.edu	37	chr20	35444329	35444329	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgccaagctctcccCgcactctccgccacccagcg	7	22	3	0			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:35444329C>T	ENST00000357779.3	-	5	1128	c.802G>A	c.(802-804)Ggg>Agg	p.G268R	SOGA1_ENST00000279034.6_Missense_Mutation_p.G268R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G109R|SOGA1_ENST00000237536.4_Missense_Mutation_p.G506R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	268					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						AAGCTCTCCCCGCACTCTCCG	0.662																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1516-1518)Ggg>Agg		suppressor of glucose, autophagy associated 1							36	43	41					20																	35444329		2157	4253	6410	SO:0001583	missense	140710							g.chr20:35444329C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.802G>A	20.37:g.35444329C>T	ENSP00000350424:p.Gly268Arg					SOGA1_ENST00000357779.3_Missense_Mutation_p.G268R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G109R|SOGA1_ENST00000279034.5_Missense_Mutation_p.G268R	p.G506R	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	1857	-			268					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1516G>A		.	.	.	.	.	.	.	.	.	.	C	16.44	3.123581	0.56613	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18810	2.2;2.2;2.25;2.19	5.24	4.3	0.51218	.	0.303544	0.32301	N	0.006290	T	0.22666	0.0547	N	0.14661	0.345	0.41164	D	0.986118	D	0.67145	0.996	P	0.61070	0.883	T	0.05354	-1.0890	10	0.18276	T	0.48	-55.9132	12.7227	0.57152	0.0:0.9197:0.0:0.0803	.	268	O94964-4	.	R	506;268;109;268	ENSP00000237536:G506R;ENSP00000279034:G268R;ENSP00000413886:G109R;ENSP00000350424:G268R	ENSP00000237536:G506R	G	-	1	0	KIAA0889	34877743	0.978000	0.34361	0.997000	0.53966	0.685000	0.39939	2.532000	0.45659	1.440000	0.47531	0.655000	0.94253	GGG		0.662	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		18	103	0	0	0	1	0	18	103					T	35444329	C	T	35444329	3	4	99	1	0	0	0	0	1	0	0	0	2090	652	23	1	3575	1	C20orf117	20	35444329	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	9787098	35444329	27581191	146	34742											
PREX1	57580	broad.mit.edu	37	chr20	47262580	47262580	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccacccgaggtgggctctgtGatggtggacagcagcctacg	15	12	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:47262580G>A	ENST00000371941.3	-	26	3343	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	PREX1_ENST00000396220.1_Silent_p.I1107I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1107					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)			TGGGCTCTGTGATGGTGGACA	0.597																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3319-3321)atC>atT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							58	55	56					20																	47262580		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47262580G>A	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.3321C>T	20.37:g.47262580G>A						PREX1_ENST00000371941.3_Silent_p.I1107I	p.I1107I			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		26	3343	-			1107					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.3321C>T	CCDS13410.1																																																																																				0.597	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		72	182	0	0	0	1	0	72	182					A	47262580	G	A	47262580	2	1	99	1	0	0	0	0	0	0	0	1	12523	1280	45	2		2	PREX1	20	47262580	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	11818251	47262580	15762940	147	34743											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		9	698						9	698	---	---	---	---	-	61833652	CCT	-	61833650	7	5	99	1	0	1	0	1	0	0	0	0	17552	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-IB-AAUU-01A-11D-A377-08	14571070	61833650	1191870	148	34744											
BACH1	571	broad.mit.edu	37	chr21	30699086	30699086	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcctttcccccacaattcttCcatagaccctcatggacttt	3	16	2	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:30699086C>T	ENST00000399921.1	+	3	1184	c.941C>T	c.(940-942)tCc>tTc	p.S314F	BACH1_ENST00000286800.3_Missense_Mutation_p.S314F	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						CACAATTCTTCCATAGACCCT	0.388																																						ENST00000399921.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						c.(940-942)tCc>tTc		BTB and CNC homology 1, basic leucine zipper transcription factor 1							121	127	125					21																	30699086		2203	4299	6502	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30699086C>T	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.941C>T	21.37:g.30699086C>T	ENSP00000382805:p.Ser314Phe					BACH1_ENST00000286800.3_Missense_Mutation_p.S314F	p.S314F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN			3	1184	+			314		S -> P (in dbSNP:rs35474725).			Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.941C>T	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077636	0.36662	.	.	ENSG00000156273	ENST00000286800;ENST00000399921	T;T	0.72167	-0.63;-0.63	5.38	5.38	0.77491	.	0.248068	0.36034	N	0.002837	T	0.54695	0.1874	N	0.14661	0.345	0.09310	N	1	B	0.34372	0.451	B	0.26517	0.07	T	0.58233	-0.7672	10	0.72032	D	0.01	-16.0467	18.0715	0.89408	0.0:1.0:0.0:0.0	.	314	O14867	BACH1_HUMAN	F	314	ENSP00000286800:S314F;ENSP00000382805:S314F	ENSP00000286800:S314F	S	+	2	0	BACH1	29620957	0.098000	0.21812	0.093000	0.20910	0.624000	0.37722	4.125000	0.57931	2.813000	0.96785	0.655000	0.94253	TCC		0.388	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		103	497	0	0	0	1	0	103	497					T	30699086	C	T	30699086	3	4	99	1	0	0	0	0	1	0	0	0	1284	855	30	2	947	2	BACH1	21	30699086	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08		30699086	17430809	149	34745											
DIP2A	23181	broad.mit.edu	37	chr21	47976980	47976980	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccctgtggtgtctgtgCaggtgagtgcagggcccctg	16	10	1	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr21:47976980C>T	ENST00000417564.2	+	30	3648	c.3627C>T	c.(3625-3627)tgC>tgT	p.C1209C	DIP2A_ENST00000318711.7_Silent_p.C1210C|DIP2A_ENST00000400274.1_Silent_p.C1205C			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1209					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)		GGTGTCTGTGCAGGTGAGTGC	0.612																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3628-3630)tgC>tgT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							27	30	29					21																	47976980		2125	4257	6382	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47976980C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3627C>T	21.37:g.47976980C>T						DIP2A_ENST00000417564.2_Silent_p.C1209C|DIP2A_ENST00000400274.1_Silent_p.C1205C	p.C1210C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	30	3813	+	Breast(49;0.0933)		1209					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.3630C>T	CCDS46655.1																																																																																				0.612	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		9	74	0	0	0	1	0	9	74					T	47976980	C	T	47976980	2	4	99	1	0	0	0	0	0	0	0	1	4543	718	25	2		2	DIP2A	21	47976980	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	17277894	47976980	152915	150	34746											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-													tgcagcagcagcagcagctcCagcagcagcagcagcagcag					rs374794651		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	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)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	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.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	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)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		10	95						10	95	---	---	---	---	-	20918918	CAG	-	20918916	7	5	99	1	0	1	0	1	0	0	0	0	9474	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-IB-AAUU-01A-11D-A377-08		20918916	30385650	151	34747											
ACR	49	broad.mit.edu	37	chr22	51182600	51182600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaaccaatgtgtgcgCggggtatcctgtaggcaaga	13	10	1	1	rs541083098		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chr22:51182600C>T	ENST00000216139.5	+	4	717	c.677C>T	c.(676-678)gCg>gTg	p.A226V	ACR_ENST00000527761.1_3'UTR|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	226	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			A -> V (in Ref. 3). {ECO:0000305}.	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)		AATGTGTGCGCGGGGTATCCT	0.577													c|||	1	0.000199681	0.0	0.0	5008	,	,		20862	0.001		0.0	False		,,,				2504	0.0					ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(676-678)gCg>gTg		acrosin							139	122	128					22																	51182600		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51182600C>T	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.677C>T	22.37:g.51182600C>T	ENSP00000216139:p.Ala226Val					ACR_ENST00000527761.1_3'UTR	p.A226V	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	4	717	+		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)	226	A -> V (in Ref. 3).		Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.677C>T	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	N	13.55	2.272141	0.40194	.	.	ENSG00000100312	ENST00000216139	D	0.91124	-2.79	4.48	3.44	0.39384	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000561	D	0.93455	0.7912	M	0.75884	2.315	0.32305	N	0.564555	D	0.89917	1.0	D	0.91635	0.999	D	0.92392	0.5922	10	0.66056	D	0.02	-19.6881	7.0808	0.25229	0.0:0.7985:0.0:0.2014	.	226	P10323	ACRO_HUMAN	V	226	ENSP00000216139:A226V	ENSP00000216139:A226V	A	+	2	0	ACR	49529466	0.988000	0.35896	0.865000	0.33974	0.031000	0.12232	3.250000	0.51445	2.335000	0.79485	0.450000	0.29827	GCG		0.577	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		8	384	0	0	0	1	0	8	384					T	51182600	C	T	51182600	3	4	99	1	0	0	0	0	1	0	0	0	169	768	27	1	691	1	ACR	22	51182600	Missense_Mutation	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	30263684	51182600	121966	152	34748											
FAM47C	442444	broad.mit.edu	37	chrX	37026745	37026745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctctcagaggtccccaaGctgaccccaaaagcaggaag	9	13	2	2			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:37026745G>A	ENST00000358047.3	+	1	314	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	88										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						AGGTCCCCAAGCTGACCCCAA	0.532																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(262-264)Gct>Act		family with sequence similarity 47, member C							75	73	74					X																	37026745		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37026745G>A	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.262G>A	X.37:g.37026745G>A	ENSP00000367913:p.Ala88Thr						p.A88T	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	314	+			88					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.262G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900661	0.17686	.	.	ENSG00000198173	ENST00000358047	T	0.20069	2.1	0.502	-0.96	0.10340	.	.	.	.	.	T	0.18383	0.0441	L	0.43701	1.375	0.09310	N	1	B	0.28584	0.216	B	0.36959	0.237	T	0.38243	-0.9670	9	0.33940	T	0.23	.	5.7074	0.17915	0.0:0.3376:0.6624:0.0	.	88	Q5HY64	FA47C_HUMAN	T	88	ENSP00000367913:A88T	ENSP00000367913:A88T	A	+	1	0	FAM47C	36936666	0.001000	0.12720	0.002000	0.10522	0.010000	0.07245	0.310000	0.19356	-0.497000	0.06641	0.292000	0.19580	GCT		0.532	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		145	131	0	0	0	1	0	145	131					A	37026745	G	A	37026745	3	1	99	1	0	0	0	0	1	0	0	0	5596	971	34	2	264	2	FAM47C	23	37026745	Missense_Mutation	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08		37026745	118243815	153	34749											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				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						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	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.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	410						7	410	---	---	---	---	-	110406208	GAA	-	110406206	7	5	99	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-IB-AAUU-01A-11D-A377-08	73379461	110406206	44864354	154	34750											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	18	6	0	1			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																						ENST00000371959.3																			1	Substitution - coding silent(1)	p.Q394Q(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1180-1182)caG>caA		angiomotin							38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058796C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T						AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q	p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1181	-			394					Q504X5|Q9HD27|Q9UPT1	Silent	SNP	ENST00000524145.1	37	c.1182G>A	CCDS48154.1																																																																																				0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		4	120	0	0	0	1	0	4	120					T	112058796	C	T	112058796	2	4	99	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-IB-AAUU-01A-11D-A377-08	1652590	112058796	43211764	155	34751											
VGLL1	51442	broad.mit.edu	37	chrX	135630884	135630884	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgaatcagttctcaccGtccctggctaggagggcctc	12	13	2	1	rs151216817		TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:135630884G>A	ENST00000370634.3	+	3	521	c.351G>A	c.(349-351)ccG>ccA	p.P117P	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTCACCGTCCCTGGCTA	0.592													G|||	1	0.000264901	0.0	0.0	3775	,	,		13992	0.0		0.001	False		,,,				2504	0.0					ENST00000370634.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(349-351)ccG>ccA		vestigial like 1 (Drosophila)		G		0,3835		0,0,1632,571	250	201	217		351	2.1	0	X	dbSNP_134	217	1,6727		0,1,2427,1872	no	coding-synonymous	VGLL1	NM_016267.3		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		117/259	135630884	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	51442				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	g.chrX:135630884G>A	AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"vestigial like 1 (Drosophila)"			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.351G>A	X.37:g.135630884G>A							p.P117P	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN			3	521	+	Acute lymphoblastic leukemia(192;0.000127)		117					Q5H915	Silent	SNP	ENST00000370634.3	37	c.351G>A	CCDS14658.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.672630	0.00758	0.0	1.49E-4	ENSG00000102243	ENST00000440515	.	.	.	5.81	2.14	0.27477	.	.	.	.	.	T	0.37945	0.1022	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23084	-1.0198	4	.	.	.	1.9921	10.4023	0.44237	0.224:0.0:0.776:0.0	.	.	.	.	I	82	.	.	V	+	1	0	VGLL1	135458550	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.073000	0.14640	0.000000	0.14550	-2.015000	0.00435	GTC		0.592	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		7	652	0	0	0	1	0	7	652					A	135630884	G	A	135630884	2	1	99	1	0	0	0	0	0	0	0	1	17212	1132	40	1		1	VGLL1	23	135630884	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	23572088	135630884	19639676	156	34752											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		6	252	0	0	0	1	0	6	252					A	150156360	G	A	150156360	2	1	99	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-IB-AAUU-01A-11D-A377-08	14525476	150156360	5114200	157	34753											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-IB-AAUU-01A-11D-A377-08	TCGA-IB-AAUU-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64433ce6-3172-4d93-97af-a61bc487b4d4	24455824-9f86-49b4-a078-ab7e8fdce629	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_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																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	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	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	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					ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		10	118						10	118	---	---	---	---	-	152087572	GAG	-	152087570	7	5	99	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-IB-AAUU-01A-11D-A377-08	1931210	152087570	3182990	158	34754											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	259						7	259	---	---	---	---	-	46184898	AC	-	46184897	7	5	100	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-IB-AAUV-01A-11D-A38G-08		46184897	203065724	1	34755											
GBP5	115362	broad.mit.edu	37	chr1	89732166	89732166	+	Frame_Shift_Del	DEL	T	T	-													gtgtttcaagttgggcaagcTttttttggtgagcaggtaag					rs34148688		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:89732166delT	ENST00000370459.3	-	6	858	c.731delA	c.(730-732)aagfs	p.K244fs	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Frame_Shift_Del_p.K244fs			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	244	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TTGGGCAAGCTTTTTTTGGTG	0.388																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(730-732)agfs		guanylate binding protein 5							182	179	180					1																	89732166		2203	4300	6503	SO:0001589	frameshift_variant	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732166delT	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.731delA	1.37:g.89732166delT	ENSP00000359488:p.Lys244fs					GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs|RP4-620F22.2_ENST00000437128.1_RNA	p.K244fs	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	7	1267	-			244					B2RCE1|Q86TM5	Frame_Shift_Del	DEL	ENST00000370459.3	37	c.731delA	CCDS722.1																																																																																				0.388	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		8	576						8	576	---	---	---	---	-	89732166	T	-	89732166	7	5	100	1	0	1	0	1	0	0	0	0	6305	1609	56	0	1053	0	GBP5	1	89732166	Frame_Shift_Del	DEL	T	TCGA-IB-AAUV-01A-11D-A38G-08	43547269	89732166	159518455	2	34756											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	9	260						9	260	---	---	---	---	A	165712551	-	A	165712550	8	5	100	1	0	1	1	0	0	0	1	0	16047	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-IB-AAUV-01A-11D-A38G-08	75980384	165712550	83538071	3	34757											
AKT3	10000	broad.mit.edu	37	chr1	243736307	243736307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaccatagaaacgtgtgCggtcctcagagaacacccgc	10	14	1	2			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr1:243736307C>T	ENST00000366539.1	-	9	940	c.740G>A	c.(739-741)cGc>cAc	p.R247H	AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GAAACGTGTGCGGTCCTCAGA	0.418																																						ENST00000366539.1																			0				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						c.(739-741)cGc>cAc		v-akt murine thymoma viral oncogene homolog 3							73	71	72					1																	243736307		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243736307C>T	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.740G>A	1.37:g.243736307C>T	ENSP00000355497:p.Arg247His					AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H	p.R247H			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		9	940	-	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)	247			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.740G>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395614	0.96009	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.87	5.87	0.94306	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	0.66684	0.2814	N	0.17872	0.535	0.80722	D	1	D;D	0.69078	0.997;0.983	P;P	0.59825	0.864;0.634	T	0.70490	-0.4857	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	247;247	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	H	247	ENSP00000336943:R247H;ENSP00000355498:R247H;ENSP00000355497:R247H;ENSP00000263826:R247H	ENSP00000263826:R247H	R	-	2	0	AKT3	241802930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGC		0.418	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		4	284	0	0	0	1	0	4	284					T	243736307	C	T	243736307	3	4	100	1	0	0	0	0	1	0	0	0	481	768	27	1	771	1	AKT3	1	243736307	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	78023757	243736307	5514314	4	34758											
MSH6	2956	broad.mit.edu	37	chr2	48010515	48010515	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttccccaggcggggatgCggcctggagcgaggctgggc	18	13	0	0			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:48010515C>T	ENST00000234420.5	+	1	295	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MSH6_ENST00000538136.1_5'Flank|MSH6_ENST00000540021.1_Missense_Mutation_p.A48V|RNU6-688P_ENST00000516063.1_RNA	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	48				AAPGASPSPGGDAAWSEAGPGP -> GCPRGLSFPRRGCGL ERGWAWA (in Ref. 2; BAA23674/BAA23675). {ECO:0000305}.	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)			GGCGGGGATGCGGCCTGGAGC	0.746			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(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						c.(142-144)gCg>gTg	Mismatch excision repair (MMR)	mutS homolog 6							6	7	6					2																	48010515		1985	3888	5873	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48010515C>T	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.143C>T	2.37:g.48010515C>T	ENSP00000234420:p.Ala48Val					MSH6_ENST00000540021.1_Missense_Mutation_p.A48V	p.A48V	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	295	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	48	AAPGASPSPGGDAAWSEAGPGP -> GCPRGLSFPRRGCGL ERGWAWA (in Ref. 2; BAA23674/BAA23675).				B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.143C>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103208	0.37145	.	.	ENSG00000116062	ENST00000234420;ENST00000446255;ENST00000540021	D;D	0.87256	-1.91;-2.23	4.78	0.659	0.17861	.	0.863088	0.10251	N	0.697147	T	0.73666	0.3616	N	0.24115	0.695	0.80722	D	1	B;B;B	0.18968	0.019;0.019;0.032	B;B;B	0.12156	0.003;0.003;0.007	T	0.61715	-0.7006	10	0.32370	T	0.25	-3.8968	1.6151	0.02701	0.3987:0.3096:0.1302:0.1615	.	48;48;48	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	V	48	ENSP00000234420:A48V;ENSP00000446475:A48V	ENSP00000234420:A48V	A	+	2	0	MSH6	47864019	0.105000	0.21958	0.994000	0.49952	0.561000	0.35649	-0.676000	0.05221	0.089000	0.17243	0.313000	0.20887	GCG		0.746	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		4	106	0	0	0	1	0	4	106					T	48010515	C	T	48010515	3	4	100	1	0	0	0	0	1	0	0	0	9915	768	27	1	145	1	MSH6	2	48010515	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		48010515	195188858	5	34759											
SP3	6670	broad.mit.edu	37	chr2	174829202	174829204	+	In_Frame_Del	DEL	GCC	GCC	-													tgctgcagatactcgccgtgGccgccgccgccgccaccgcc							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:174829202_174829204delGCC	ENST00000310015.6	-	2	615_617	c.85_87delGGC	c.(85-87)ggcdel	p.G29del	SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_In_Frame_Del_p.G17del|SP3_ENST00000418194.2_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	29	Poly-Gly.				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)			ACTcgccgtggccgccgccgccg	0.719																																						ENST00000310015.6																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(85-87)del		Sp3 transcription factor			,	4,1256		1,2,627					,	2.5	1			2	18,3042		6,6,1518	no	coding,coding	SP3	NM_003111.4,NM_001172712.1	,	7,8,2145	A1A1,A1R,RR		0.5882,0.3175,0.5093	,	,		22,4298				SO:0001651	inframe_deletion	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174829202_174829204delGCC	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.85_87delGGC	2.37:g.174829211_174829213delGCC	ENSP00000310301:p.Gly29del					SP3_ENST00000455789.2_In_Frame_Del_p.G17del	p.G29del	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		2	615_617	-			29			Poly-Gly.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	In_Frame_Del	DEL	ENST00000310015.6	37	c.85_87delGGC	CCDS2254.1																																																																																				0.719	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		2	4						2	4	---	---	---	---	-	174829204	GCC	-	174829202	7	5	100	1	0	1	0	1	0	0	0	0	15015	1190	42	0	2282	0	SP3	2	174829202	In_Frame_Del	DEL	GCC	TCGA-IB-AAUV-01A-11D-A38G-08	126818687	174829202	68370171	6	34760											
GTF3C3	9330	broad.mit.edu	37	chr2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T													tgaggtgccttcttctgaagINStttttttttccagcacaatt							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	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																																						ENST00000263956.3																			0				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						c.(1081-1083)ttcfs		general transcription factor IIIC, polypeptide 3, 102kDa																																				SO:0001589	frameshift_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197649613_197649614insT	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					GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			8	1170_1171	-			361					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Ins	INS	ENST00000263956.3	37	c.1081_1082insA	CCDS2316.1																																																																																				0.337	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			8	271						8	271	---	---	---	---	T	197649614	-	T	197649613	7	5	100	1	0	1	1	0	0	0	0	0	6904	1029	36	0	1622	0	GTF3C3	2	197649613	Frame_Shift_Ins	INS	-	TCGA-IB-AAUV-01A-11D-A38G-08	22820411	197649613	45549760	7	34761											
HSPE1	3336	broad.mit.edu	37	chr2	198367975	198367975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacattcttggaaagtacGtagactgaaataagtcacta	9	6	2	3			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr2:198367975G>A	ENST00000233893.5	+	4	744	c.301G>A	c.(301-303)Gta>Ata	p.V101I	HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|HSPE1-MOB4_ENST00000604458.1_Intron|HSPE1_ENST00000465573.1_3'UTR|HSPD1_ENST00000345042.2_5'Flank	NM_002157.2	NP_002148.1	P61604	CH10_HUMAN	heat shock 10kDa protein 1	101					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|osteoblast differentiation (GO:0001649)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			lung(1)	1			Epithelial(96;0.225)			TGGAAAGTACGTAGACTGAAA	0.328																																						ENST00000233893.5																			0				lung(1)	1						c.(301-303)Gta>Ata		heat shock 10kDa protein 1							118	123	121					2																	198367975		2203	4299	6502	SO:0001583	missense	3336							g.chr2:198367975G>A	AF109872	CCDS2320.1	2q33.1	2013-10-17	2013-10-17		ENSG00000115541	ENSG00000115541		"Heat Shock Proteins / Chaperonins"	5269	protein-coding gene	gene with protein product	"chaperonin 10"	600141	"heat shock 10kD protein 1 (chaperonin 10)"			7914093, 7698325	Standard	NM_002157		Approved	CPN10, GROES		P61604	OTTHUMG00000132749	ENST00000233893.5:c.301G>A	2.37:g.198367975G>A	ENSP00000233893:p.Val101Ile					HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|MOB4_ENST00000604458.1_Intron	p.V101I	NM_002157.2	NP_002148.1			Epithelial(96;0.225)		4	744	+								O95421|Q04984|Q53X54|Q9UDH0	Missense_Mutation	SNP	ENST00000233893.5	37	c.301G>A	CCDS2320.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575327	0.28092	.	.	ENSG00000115541	ENST00000233893;ENST00000409729	.	.	.	5.1	0.0917	0.14469	GroES-like (1);	0.525107	0.18667	N	0.134546	T	0.39860	0.1094	L	0.39397	1.21	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10314	-1.0635	9	0.36615	T	0.2	-4.7243	3.4473	0.07484	0.1357:0.1774:0.4574:0.2295	.	101	P61604	CH10_HUMAN	I	101;46	.	ENSP00000233893:V101I	V	+	1	0	HSPE1	198076220	0.991000	0.36638	0.910000	0.35882	0.821000	0.46438	2.144000	0.42197	-0.035000	0.13691	-1.268000	0.01426	GTA		0.328	HSPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256112.1	NM_002157		7	448	0	0	0	1	0	7	448					A	198367975	G	A	198367975	3	1	100	1	0	0	0	0	1	0	0	0	7459	1145	40	1	315	1	HSPE1	2	198367975	Missense_Mutation	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08	718362	198367975	44831398	8	34762											
BSN	8927	broad.mit.edu	37	chr3	49701953	49701953	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctccaagatcctccctggCggggcagccgagcaagctgg	13	14	1	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:49701953C>T	ENST00000296452.4	+	9	11820	c.11706C>T	c.(11704-11706)ggC>ggT	p.G3902G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3902					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)		TCCTCCCTGGCGGGGCAGCCG	0.642																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(11704-11706)ggC>ggT		bassoon presynaptic cytomatrix protein							50	56	54					3																	49701953		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49701953C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11706C>T	3.37:g.49701953C>T							p.G3902G	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	9	11820	+			3902					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.11706C>T	CCDS2800.1																																																																																				0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	265	0	0	0	1	0	5	265					T	49701953	C	T	49701953	2	4	100	1	0	0	0	0	0	0	0	1	1534	755	27	1		1	BSN	3	49701953	Silent	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		49701953	148320477	9	34763											
MST1	327	broad.mit.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgagccgtcggggttccGgcagaagttctcccgaaggt	14	12	2	2	rs199969873	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.R347W|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			5	94	0	0	0	1	0	5	94					A	49723603	G	A	49723603	1	1	100	0	1	0	0	0	0	0	0	0	9931	1115	39	1		1	MST1	3	49723603	IGR	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08	21650	49723603	148298827	10	34764											
KIAA2018	205717	broad.mit.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-													cccgttggaataaacaataaTttttttttgaacctggtcac							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						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						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	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.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		10	457						10	457	---	---	---	---	-	113380090	T	-	113380090	7	5	100	1	0	1	0	1	0	0	0	0	8298	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-IB-AAUV-01A-11D-A38G-08	63656487	113380090	84642340	11	34765											
TNIK	23043	broad.mit.edu	37	chr3	170884937	170884937	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggtccttgagttgaatgCggacctgtcgctcattaggt	12	8	1	2			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr3:170884937C>T	ENST00000436636.2	-	10	1240	c.896G>A	c.(895-897)cGc>cAc	p.R299H	TNIK_ENST00000538048.1_Missense_Mutation_p.R299H|TNIK_ENST00000488470.1_Missense_Mutation_p.R299H|TNIK_ENST00000357327.5_Missense_Mutation_p.R299H|TNIK_ENST00000470834.1_Missense_Mutation_p.R299H|TNIK_ENST00000460047.1_Missense_Mutation_p.R299H|TNIK_ENST00000475336.1_Missense_Mutation_p.R299H|TNIK_ENST00000369326.5_Missense_Mutation_p.R299H|TNIK_ENST00000341852.6_Missense_Mutation_p.R299H|TNIK_ENST00000284483.8_Missense_Mutation_p.R299H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	299	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTGAATGCGGACCTGTCG	0.428																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(895-897)cGc>cAc		TRAF2 and NCK interacting kinase							185	164	171					3																	170884937		1913	4120	6033	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170884937C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.896G>A	3.37:g.170884937C>T	ENSP00000399511:p.Arg299His					TNIK_ENST00000470834.1_Missense_Mutation_p.R299H|TNIK_ENST00000538048.1_Missense_Mutation_p.R299H|TNIK_ENST00000341852.6_Missense_Mutation_p.R299H|TNIK_ENST00000369326.5_Missense_Mutation_p.R299H|TNIK_ENST00000475336.1_Missense_Mutation_p.R299H|TNIK_ENST00000488470.1_Missense_Mutation_p.R299H|TNIK_ENST00000357327.5_Missense_Mutation_p.R299H|TNIK_ENST00000284483.8_Missense_Mutation_p.R299H|TNIK_ENST00000460047.1_Missense_Mutation_p.R299H	p.R299H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		10	1240	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		299			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.896G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413727	0.96072	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	D;D;D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92854	0.7727	M	0.80183	2.485	0.80722	D	1	P;D;D;D;D;D;D;D	0.89917	0.66;0.999;0.995;1.0;0.999;0.999;0.995;0.997	B;D;P;D;D;D;P;D	0.81914	0.236;0.981;0.873;0.995;0.981;0.981;0.873;0.958	D	0.93323	0.6694	10	0.72032	D	0.01	.	19.3798	0.94527	0.0:1.0:0.0:0.0	.	299;299;299;299;299;299;299;299	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	H	299;299;299;299;299;299;299;299;299;299;273	ENSP00000399511:R299H;ENSP00000358332:R299H;ENSP00000443278:R299H;ENSP00000345352:R299H;ENSP00000284483:R299H;ENSP00000418156:R299H;ENSP00000349880:R299H;ENSP00000418916:R299H;ENSP00000418378:R299H;ENSP00000419990:R299H;ENSP00000417338:R273H	ENSP00000284483:R299H	R	-	2	0	TNIK	172367631	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.644000	0.89710	0.655000	0.94253	CGC		0.428	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		4	153	0	0	0	1	0	4	153					T	170884937	C	T	170884937	3	4	100	1	0	0	0	0	1	0	0	0	16365	768	27	1	3282	1	TNIK	3	170884937	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	57504847	170884937	27137493	12	34766											
NPNT	255743	broad.mit.edu	37	chr4	106859478	106859478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgccctgacctgctccatgGcaaactgtcagtatggctgt	11	12	1	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr4:106859478G>A	ENST00000379987.2	+	5	622	c.406G>A	c.(406-408)Gca>Aca	p.A136T	NPNT_ENST00000305572.8_Missense_Mutation_p.A136T|NPNT_ENST00000427316.2_Missense_Mutation_p.A166T|NPNT_ENST00000506666.1_Missense_Mutation_p.A166T|NPNT_ENST00000514622.1_Missense_Mutation_p.A136T|NPNT_ENST00000453617.2_Missense_Mutation_p.A153T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	136	EGF-like 3. {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)		CTGCTCCATGGCAAACTGTCA	0.498																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(406-408)Gca>Aca		nephronectin							95	87	90					4																	106859478		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106859478G>A		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.406G>A	4.37:g.106859478G>A	ENSP00000369323:p.Ala136Thr					NPNT_ENST00000514622.1_Missense_Mutation_p.A136T|NPNT_ENST00000506666.1_Missense_Mutation_p.A166T|NPNT_ENST00000305572.8_Missense_Mutation_p.A136T|NPNT_ENST00000453617.2_Missense_Mutation_p.A153T|NPNT_ENST00000427316.2_Missense_Mutation_p.A166T	p.A136T	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	5	622	+		Hepatocellular(203;0.217)	136			EGF-like 3.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.406G>A	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.823035|4.823035	0.90873|0.90873	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;T;D;D;T;T|.	0.87334|.	-2.24;-2.24;-2.24;-0.96;-2.24;-2.24;-0.95;-0.12|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Epidermal growth factor-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59824|0.59824	0.2222|0.2222	L|L	0.31845|0.31845	0.965|0.965	0.58432|0.58432	D|D	0.999999|0.999999	D;B;B;D;B;D;D|.	0.71674|.	0.998;0.112;0.112;0.983;0.112;0.983;0.997|.	D;B;B;P;B;P;D|.	0.83275|.	0.995;0.118;0.168;0.833;0.118;0.854;0.996|.	T|T	0.54193|0.54193	-0.8330|-0.8330	10|5	0.10111|.	T|.	0.7|.	.|.	19.1259|19.1259	0.93384|0.93384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	136;166;166;153;183;136;136|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	T|D	32;136;153;166;136;136;166;183|112	ENSP00000426951:A32T;ENSP00000369323:A136T;ENSP00000402884:A153T;ENSP00000389252:A166T;ENSP00000422044:A136T;ENSP00000302557:A136T;ENSP00000422474:A166T;ENSP00000426146:A183T|.	ENSP00000302557:A136T|.	A|G	+|+	1|2	0|0	NPNT|NPNT	107078927|107078927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.357000|9.357000	0.97099|0.97099	2.585000|2.585000	0.87301|0.87301	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.498	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		4	262	0	0	0	1	0	4	262					A	106859478	G	A	106859478	3	1	100	1	0	0	0	0	1	0	0	0	10632	1203	42	2	573	2	NPNT	4	106859478	Missense_Mutation	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08		106859478	84294798	13	34767											
SLC12A2	6558	broad.mit.edu	37	chr5	127448571	127448571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagagatgctgtggtcacGtatactgcagaaagtaaagg	12	7	1	2			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr5:127448571G>A	ENST00000262461.2	+	2	1011	c.822G>A	c.(820-822)acG>acA	p.T274T	SLC12A2_ENST00000343225.4_Silent_p.T274T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	274					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)	CTGTGGTCACGTATACTGCAG	0.368																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(820-822)acG>acA		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						127	123	124					5																	127448571		2203	4300	6503	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127448571G>A		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.822G>A	5.37:g.127448571G>A						SLC12A2_ENST00000343225.4_Silent_p.T274T	p.T274T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	2	1011	+		all_cancers(142;0.0972)|Prostate(80;0.151)	274					Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.822G>A	CCDS4144.1																																																																																				0.368	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		5	440	0	0	0	1	0	5	440					A	127448571	G	A	127448571	2	1	100	1	0	0	0	0	0	0	0	1	14433	1132	40	1		1	SLC12A2	5	127448571	Silent	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08		127448571	53466689	14	34768											
IL17B	27190	broad.mit.edu	37	chr5	148756445	148756445	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactcctccatgcgggcataCggtttcatccgtgacaccag	9	14	1	1	rs376026730		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		20185	0.0		0.0	False		,,,				2504	0.001					ENST00000261796.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(163-165)ccG>ccA		interleukin 17B		C		0,4406		0,0,2203	105	99	101		165	-9.9	0	5		101	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IL17B	NM_014443.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		55/181	148756445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27190				cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	g.chr5:148756445C>T	AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"Interleukins and interleukin receptors"	5982	protein-coding gene	gene with protein product	"neuronal interleukin-17-related factor"	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.165G>A	5.37:g.148756445C>T						IL17B_ENST00000505432.1_5'UTR	p.P55P	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	215	-			55					Q14CE5	Silent	SNP	ENST00000261796.3	37	c.165G>A	CCDS4297.1																																																																																				0.622	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252330.1	NM_014443		6	344	0	0	0	1	0	6	344					T	148756445	C	T	148756445	2	4	100	1	0	0	0	0	0	0	0	1	7665	523	19	1		1	IL17B	5	148756445	Silent	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	21307874	148756445	32158815	15	34769											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212|rs368069269	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		8	259						8	259	---	---	---	---	-	7393452	GAC	-	7393450	7	5	100	1	0	1	0	1	0	0	0	0	13427	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-IB-AAUV-01A-11D-A38G-08		7393450	163721617	16	34770											
SLC35B2	347734	broad.mit.edu	37	chr6	44223293	44223293	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccaggaactgcgagtccGtaaagcgctcacccggtgat	12	13	1	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:44223293G>A	ENST00000393812.3	-	4	592	c.449C>T	c.(448-450)aCg>aTg	p.T150M	MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000537814.1_Missense_Mutation_p.T17M|SLC35B2_ENST00000538577.1_Missense_Mutation_p.T57M|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	150					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCGAGTCCGTAAAGCGCTC	0.592																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(448-450)aCg>aTg		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							93	91	92					6																	44223293		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44223293G>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.449C>T	6.37:g.44223293G>A	ENSP00000377401:p.Thr150Met					SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.T17M|SLC35B2_ENST00000538577.1_Missense_Mutation_p.T57M|SLC35B2_ENST00000495706.1_5'UTR	p.T150M	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	592	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		150					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.449C>T	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000048	0.54147	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.31769	1.48;1.48;1.48	5.79	5.79	0.91817	.	0.287528	0.38058	N	0.001825	T	0.43366	0.1244	M	0.85041	2.73	0.30326	N	0.78713	D;P	0.76494	0.999;0.92	P;P	0.61275	0.886;0.629	T	0.52223	-0.8604	10	0.59425	D	0.04	-12.4886	10.0146	0.42008	0.0:0.1231:0.6893:0.1876	.	57;150	F5H7Y9;Q8TB61	.;S35B2_HUMAN	M	150;17;57;150	ENSP00000377401:T150M;ENSP00000440340:T17M;ENSP00000443845:T57M	ENSP00000342455:T150M	T	-	2	0	SLC35B2	44331271	0.973000	0.33851	0.977000	0.42913	0.812000	0.45895	1.874000	0.39568	2.750000	0.94351	0.561000	0.74099	ACG		0.592	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			5	317	0	0	0	1	0	5	317					A	44223293	G	A	44223293	3	1	100	1	0	0	0	0	1	0	0	0	14626	1145	40	1	853	1	SLC35B2	6	44223293	Missense_Mutation	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08	36829843	44223293	126891774	17	34771											
CDC5L	988	broad.mit.edu	37	chr6	44392244	44392244	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattgttctaccagaaaatgCcgagaaggagctggaagaac	11	7	1	3			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:44392244C>T	ENST00000371477.3	+	11	1792	c.1493C>T	c.(1492-1494)gCc>gTc	p.A498V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	498	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)			CCAGAAAATGCCGAGAAGGAG	0.438																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(1492-1494)gCc>gTc		cell division cycle 5-like							111	100	104					6																	44392244		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44392244C>T	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.1493C>T	6.37:g.44392244C>T	ENSP00000360532:p.Ala498Val						p.A498V	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1792	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		498			Interaction with PPP1R8.		Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.1493C>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263269	0.59431	.	.	ENSG00000096401	ENST00000371477	T	0.46819	0.86	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	L	0.41027	1.25	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.04017	-1.0984	10	0.38643	T	0.18	-14.1071	20.6208	0.99490	0.0:1.0:0.0:0.0	.	498	Q99459	CDC5L_HUMAN	V	498	ENSP00000360532:A498V	ENSP00000360532:A498V	A	+	2	0	CDC5L	44500222	1.000000	0.71417	0.983000	0.44433	0.933000	0.57130	6.084000	0.71335	2.882000	0.98803	0.655000	0.94253	GCC		0.438	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			4	183	0	0	0	1	0	4	183					T	44392244	C	T	44392244	3	4	100	1	0	0	0	0	1	0	0	0	3091	739	26	2	1535	2	CDC5L	6	44392244	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	168951	44392244	126722823	18	34772											
STXBP5	134957	broad.mit.edu	37	chr6	147684586	147684586	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgttcctgaagaaaaAgacgaaaaggagaaattgaa	9	5	0	5			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr6:147684586A>G	ENST00000321680.6	+	24	2661	c.2661A>G	c.(2659-2661)aaA>aaG	p.K887K	STXBP5_ENST00000367481.3_Silent_p.K851K|STXBP5_ENST00000179882.6_Silent_p.K542K|STXBP5_ENST00000367480.3_Silent_p.K834K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	887					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)		CTGAAGAAAAAGACGAAAAGG	0.433																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2551-2553)aaA>aaG		syntaxin binding protein 5 (tomosyn)							72	79	77					6																	147684586		2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147684586A>G	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.2661A>G	6.37:g.147684586A>G						STXBP5_ENST00000321680.6_Silent_p.K887K|STXBP5_ENST00000179882.6_Silent_p.K542K|STXBP5_ENST00000367480.3_Silent_p.K834K	p.K851K	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	22	2661	+		Ovarian(120;0.0164)	887					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2553A>G	CCDS47499.1																																																																																				0.433	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			4	260	0	0	0	1	0	4	260					G	147684586	A	G	147684586	2	3	100	1	0	0	0	0	0	0	0	1	15408	69	3	4		4	STXBP5	6	147684586	Silent	SNP	A	TCGA-IB-AAUV-01A-11D-A38G-08	103292342	147684586	23430481	19	34773											
CLIP2	7461	broad.mit.edu	37	chr7	73771745	73771746	+	Frame_Shift_Ins	INS	-	-	C													acgggctgaggtggccaaggINSccacaagccacatctgcgag							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr7:73771745_73771746insC	ENST00000395060.1	+	5	1153_1154	c.1153_1154insC	c.(1153-1155)gccfs	p.A385fs	CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.A385fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.A385fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	385						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						GGTGGCCAAGGCCACAAGCCAC	0.629																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(1153-1155)cacfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73771745_73771746insC	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.1155dupC	7.37:g.73771747_73771747dupC	ENSP00000378500:p.Ala385fs					CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.H385fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.H385fs	p.H385fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			6	1480_1481	+			385					O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	c.1153_1154insC	CCDS5569.1																																																																																				0.629	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		7	95						7	95	---	---	---	---	C	73771746	-	C	73771745	7	5	100	1	0	1	1	0	0	0	0	0	3542	1203	42	0	1171	0	CLIP2	7	73771745	Frame_Shift_Ins	INS	-	TCGA-IB-AAUV-01A-11D-A38G-08		73771745	85366918	20	34774											
MUC17	140453	broad.mit.edu	37	chr7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgatggtaccagcatgCcaaccccagcttatagtgaa	9	12	0	2			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	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)					TACCAGCATGCCAACCCCAGC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5926-5928)Cca>Tca		mucin 17, cell surface associated							276	267	270					7																	100680623		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680623C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5926C>T	7.37:g.100680623C>T	ENSP00000302716:p.Pro1976Ser						p.P1976S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5990	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1976			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5926C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217494	0.06101	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.48647	-0.9017	9	0.16420	T	0.52	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	1976	Q685J3	MUC17_HUMAN	S	1976	ENSP00000302716:P1976S	ENSP00000302716:P1976S	P	+	1	0	MUC17	100467343	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.589000	0.02104	0.551000	0.29008	0.134000	0.15878	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	1311	0	0	0	1	0	8	1311					T	100680623	C	T	100680623	3	4	100	1	0	0	0	0	1	0	0	0	10015	739	26	2	5936	2	MUC17	7	100680623	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	26908878	100680623	58458040	21	34775											
CBLL1	79872	broad.mit.edu	37	chr7	107395909	107395909	+	Frame_Shift_Del	DEL	A	A	-													tgactgtgctattttacatgAaaaaaagggagataagatgt							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr7:107395909delA	ENST00000440859.3	+	5	880	c.413delA	c.(412-414)gaafs	p.E138fs	CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs|CBLL1_ENST00000415884.2_Intron	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	138					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ATTTTACATGAAAAAAAGGGA	0.269																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(412-414)gafs		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							114	119	117					7																	107395909		2203	4298	6501	SO:0001589	frameshift_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107395909delA	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"RING-type (C3HC4) zinc fingers"	21225	protein-coding gene	gene with protein product	"Casitas B-lineage lymphoma-like"	606872	"Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.413delA	7.37:g.107395909delA	ENSP00000401277:p.Glu138fs					CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs	p.E138fs	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			5	880	+			138					B7ZM03|Q8TAJ4|Q9H5S6	Frame_Shift_Del	DEL	ENST00000440859.3	37	c.413delA	CCDS5747.1																																																																																				0.269	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		7	862						7	862	---	---	---	---	-	107395909	A	-	107395909	7	5	100	1	0	1	0	1	0	0	0	0	2710	246	9	0	431	0	CBLL1	7	107395909	Frame_Shift_Del	DEL	A	TCGA-IB-AAUV-01A-11D-A38G-08	6715286	107395909	51742754	22	34776											
DUSP26	78986	broad.mit.edu	37	chr8	33454858	33454858	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agacctcgtcggcatggttaCaggctgtcttgcctgtgtag	13	10	1	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr8:33454858C>A	ENST00000256261.4	-	2	693	c.176G>T	c.(175-177)tGt>tTt	p.C59F	DUSP26_ENST00000523956.1_Missense_Mutation_p.C59F	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	59					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGCATGGTTACAGGCTGTCTT	0.562																																						ENST00000256261.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15						c.(175-177)tGt>tTt		dual specificity phosphatase 26 (putative)							66	49	55					8																	33454858		2203	4300	6503	SO:0001583	missense	78986					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:33454858C>A	AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.176G>T	8.37:g.33454858C>A	ENSP00000256261:p.Cys59Phe					DUSP26_ENST00000523956.1_Missense_Mutation_p.C59F	p.C59F	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)	2	693	-			59					D3DSV8|Q9BTW0	Missense_Mutation	SNP	ENST00000256261.4	37	c.176G>T	CCDS6092.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405082	0.62288	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.59502	0.26;0.26;0.26	5.5	5.5	0.81552	.	0.432553	0.29417	N	0.012215	T	0.49270	0.1547	L	0.47190	1.495	0.49389	D	0.999786	B	0.31680	0.335	B	0.34590	0.186	T	0.38585	-0.9654	10	0.11794	T	0.64	-28.3595	12.3666	0.55232	0.0:0.922:0.0:0.078	.	59	Q9BV47	DUS26_HUMAN	F	59	ENSP00000256261:C59F;ENSP00000429176:C59F;ENSP00000430922:C59F	ENSP00000256261:C59F	C	-	2	0	DUSP26	33574400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.304000	0.78882	2.590000	0.87494	0.561000	0.74099	TGT		0.562	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376564.1	NM_024025		4	107	1	0	1.23904e-05	1	1.38604e-05	4	107					A	33454858	C	A	33454858	3	1	100	1	0	0	0	0	1	0	0	0	4839	478	17	3	471	3	DUSP26	8	33454858	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		33454858	112909164	23	34777											
GPR124	25960	broad.mit.edu	37	chr8	37698695	37698695	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggatctatttcctgtgcgccGggctacgcttacggggtcct	13	12	1	0			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr8:37698695G>A	ENST00000412232.2	+	19	2852	c.2839G>A	c.(2839-2841)Ggg>Agg	p.G947R	GPR124_ENST00000315215.7_Missense_Mutation_p.G730R	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	947					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)			CCTGTGCGCCGGGCTACGCTT	0.627																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2188-2190)Ggg>Agg		G protein-coupled receptor 124							76	82	80					8																	37698695		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698695G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2839G>A	8.37:g.37698695G>A	ENSP00000406367:p.Gly947Arg					GPR124_ENST00000412232.2_Missense_Mutation_p.G947R	p.G730R			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2551	+			947			GPS.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2188G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488945	0.64074	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.42900	0.96;0.96	4.86	4.86	0.63082	.	0.135048	0.50627	D	0.000110	T	0.47021	0.1423	N	0.24115	0.695	0.46499	D	0.999077	P;D	0.71674	0.889;0.998	B;P	0.60415	0.154;0.874	T	0.37753	-0.9692	10	0.27785	T	0.31	-27.2766	17.9767	0.89129	0.0:0.0:1.0:0.0	.	730;947	Q96PE1-2;Q96PE1	.;GP124_HUMAN	R	940;730;947	ENSP00000323508:G730R;ENSP00000406367:G947R	ENSP00000323508:G730R	G	+	1	0	GPR124	37817853	1.000000	0.71417	0.986000	0.45419	0.881000	0.50899	3.905000	0.56333	2.242000	0.73789	0.655000	0.94253	GGG		0.627	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	281	0	0	0	1	0	5	281					A	37698695	G	A	37698695	3	1	100	1	0	0	0	0	1	0	0	0	6667	1116	39	1	2892	1	GPR124	8	37698695	Missense_Mutation	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08	4243837	37698695	108665327	24	34778											
ANK3	288	broad.mit.edu	37	chr10	61828729	61828729	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggtagtggtggtagtGgtggtggtggtggcagtggt	24	1	0	0			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr10:61828729G>A	ENST00000280772.2	-	37	12101	c.11910C>T	c.(11908-11910)acC>acT	p.T3970T	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)	3970	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						tggtggtagtggtggtggtgg	0.468																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11908-11910)acC>acT		ankyrin 3, node of Ranvier (ankyrin G)							78	86	83					10																	61828729		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828729G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11910C>T	10.37:g.61828729G>A						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	p.T3970T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12101	-			3970			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.11910C>T	CCDS7258.1																																																																																				0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		5	433	0	0	0	1	0	5	433					A	61828729	G	A	61828729	2	1	100	1	0	0	0	0	0	0	0	1	622	1335	47	2		2	ANK3	10	61828729	Silent	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08		61828729	73706018	25	34779											
DUSP13	51207	broad.mit.edu	37	chr10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggaacttgcctgcagcgGcattcacaacgtgggtgatt	12	11	1	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr10:76855494G>A	ENST00000472493.2	-	3	311	c.233C>T	c.(232-234)gCc>gTc	p.A78V	DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000491677.2_Missense_Mutation_p.A207V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	78					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)					GCCTGCAGCGGCATTCACAAC	0.577																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(619-621)gCc>gTc		dual specificity phosphatase 13							205	181	189					10																	76855494		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855494G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.233C>T	10.37:g.76855494G>A	ENSP00000444580:p.Ala78Val					DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V	p.A207V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1162	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		70					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.620C>T	CCDS7346.1	.	.	.	.	.	.	.	.	.	.	G	8.989	0.977271	0.18812	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60548	0.42;0.42;0.42;0.18;0.42	5.11	-2.7	0.06004	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.348638	0.33235	N	0.005130	T	0.30947	0.0781	N	0.13198	0.31	0.31631	N	0.648985	B;P;P	0.41265	0.342;0.678;0.744	B;B;B	0.36534	0.092;0.137;0.227	T	0.48198	-0.9056	10	0.14656	T	0.56	-2.9419	12.3709	0.55254	0.2733:0.0:0.7267:0.0	.	128;207;78	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	78;78;207;171;78;128	ENSP00000311051:A78V;ENSP00000444580:A78V;ENSP00000436312:A207V;ENSP00000434041:A78V;ENSP00000361785:A128V	ENSP00000311051:A78V	A	-	2	0	DUSP13	76525500	0.981000	0.34729	0.126000	0.21872	0.401000	0.30781	2.524000	0.45589	-0.319000	0.08652	-0.150000	0.13652	GCC		0.577	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			10	596	0	0	0	1	0	10	596					A	76855494	G	A	76855494	3	1	100	1	0	0	0	0	1	0	0	0	4829	1203	42	2	371	2	DUSP13	10	76855494	Missense_Mutation	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08	15026765	76855494	58679253	26	34780											
MUC5B	727897	broad.mit.edu	37	chr11	1268340	1268340	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	accaacccctcctcaactccAgggacaactcccatcccccc	3	23	1	0	rs368194612		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr11:1268340A>T	ENST00000529681.1	+	31	10288	c.10230A>T	c.(10228-10230)ccA>ccT	p.P3410P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3413P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3410	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cctcaactccagggacaactc	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10237-10239)ccA>ccT		mucin 5B, oligomeric mucus/gel-forming							148	179	169					11																	1268340		2112	4168	6280	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268340A>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10230A>T	11.37:g.1268340A>T						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P	p.P3413P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10297	+		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)	3410	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10239A>T	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	32	0	0	0	1	0	4	32					T	1268340	A	T	1268340	2	4	100	1	0	0	0	0	0	0	0	1	10020	175	7	5		5	MUC5B	11	1268340	Silent	SNP	A	TCGA-IB-AAUV-01A-11D-A38G-08		1268340	133738176	27	34781											
KIF21A	55605	broad.mit.edu	37	chr12	39713783	39713784	+	Frame_Shift_Ins	INS	-	-	T													tacaggagaaggctctggaaINStttttttttctgatagagat							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr12:39713783_39713784insT	ENST00000361418.5	-	28	3718_3719	c.3703_3704insA	c.(3703-3705)attfs	p.I1235fs	KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.I1199fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.I1222fs|KIF21A_ENST00000395670.3_Frame_Shift_Ins_p.I1235fs|KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.I1215fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1235					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)				AGGCTCTGGAATTTTTTTTTCT	0.342																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3703-3705)tccfs		kinesin family member 21A																																				SO:0001589	frameshift_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39713783_39713784insT	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.3704dupA	12.37:g.39713792_39713792dupT	ENSP00000354878:p.Ile1235fs					KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.S1222fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.S1235fs|KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.S1199fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.S1215fs	p.S1235fs			Q7Z4S6	KI21A_HUMAN			27	4122_4123	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1235					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Ins	INS	ENST00000361418.5	37	c.3703_3704insA	CCDS53776.1																																																																																				0.342	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		7	548						7	548	---	---	---	---	T	39713784	-	T	39713783	7	5	100	1	0	1	1	0	0	0	0	0	8318	101	4	0	1364	0	KIF21A	12	39713783	Frame_Shift_Ins	INS	-	TCGA-IB-AAUV-01A-11D-A38G-08		39713783	94138112	28	34782											
SACS	26278	broad.mit.edu	37	chr13	23911703	23911703	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatggcaaaaccaaaggatgCccctccaaggaacaaggaat	10	10	0	0			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr13:23911703C>T	ENST00000382292.3	-	9	6585	c.6312G>A	c.(6310-6312)ggG>ggA	p.G2104G	SACS_ENST00000382298.3_Silent_p.G2104G|SACS_ENST00000402364.1_Silent_p.G1354G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2104					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)		CCAAAGGATGCCCCTCCAAGG	0.403																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6310-6312)ggG>ggA		spastic ataxia of Charlevoix-Saguenay (sacsin)							61	62	62					13																	23911703		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911703C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6312G>A	13.37:g.23911703C>T						SACS_ENST00000402364.1_Silent_p.G1354G|SACS_ENST00000382292.3_Silent_p.G2104G	p.G2104G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6900	-		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)	2104					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.6312G>A	CCDS9300.2																																																																																				0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	260	0	0	0	1	0	4	260					T	23911703	C	T	23911703	2	4	100	1	0	0	0	0	0	0	0	1	13854	726	26	2		2	SACS	13	23911703	Silent	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		23911703	91258175	29	34783											
CLN5	1203	broad.mit.edu	37	chr13	77570161	77570161	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccgacctgaaatggatgCccctttctggtgtaatcaag	9	11	3	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr13:77570161C>T	ENST00000377453.3	+	3	1903	c.611C>T	c.(610-612)gCc>gTc	p.A204V	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	155					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GAAATGGATGCCCCTTTCTGG	0.418																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(610-612)gCc>gTc		ceroid-lipofuscinosis, neuronal 5							176	161	166					13																	77570161		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570161C>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.611C>T	13.37:g.77570161C>T	ENSP00000366673:p.Ala204Val					CLN5_ENST00000485938.1_3'UTR	p.A204V	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	1903	+		Acute lymphoblastic leukemia(28;0.205)	155					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.611C>T	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094188	0.94149	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.88975	-2.45	5.54	4.67	0.58626	.	0.100063	0.64402	D	0.000002	D	0.92430	0.7597	M	0.67953	2.075	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	D	0.92220	0.5783	10	0.52906	T	0.07	-12.9722	13.4957	0.61424	0.281:0.719:0.0:0.0	.	155	O75503	CLN5_HUMAN	V	204;155;70	ENSP00000366673:A204V	ENSP00000366673:A204V	A	+	2	0	CLN5	76468162	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.803000	0.62546	2.618000	0.88619	0.563000	0.77884	GCC		0.418	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		6	506	0	0	0	1	0	6	506					T	77570161	C	T	77570161	3	4	100	1	0	0	0	0	1	0	0	0	3553	739	26	2	621	2	CLN5	13	77570161	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	53658458	77570161	37599717	30	34784											
RYR3	6263	broad.mit.edu	37	chr15	33955010	33955010	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttggggagcatagtgCggggacagaggagggagcag	21	4	0	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr15:33955010C>T	ENST00000389232.4	+	35	5349	c.5279C>T	c.(5278-5280)gCg>gTg	p.A1760V	RYR3_ENST00000415757.3_Missense_Mutation_p.A1760V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1760	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)		GAGCATAGTGCGGGGACAGAG	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5278-5280)gCg>gTg		ryanodine receptor 3							140	150	147					15																	33955010		2056	4213	6269	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33955010C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5279C>T	15.37:g.33955010C>T	ENSP00000373884:p.Ala1760Val					RYR3_ENST00000415757.3_Missense_Mutation_p.A1760V	p.A1760V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5349	+		all_lung(180;7.18e-09)	1760			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5279C>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	2.462	-0.323806	0.05350	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.72282	-0.64;-0.64	5.11	-1.47	0.08772	.	0.629031	0.15845	N	0.241811	T	0.54679	0.1873	L	0.29908	0.895	0.09310	N	0.999997	B;B	0.13145	0.007;0.003	B;B	0.06405	0.002;0.001	T	0.44174	-0.9345	10	0.36615	T	0.2	.	12.3264	0.55013	0.0921:0.628:0.2798:0.0	.	1760;1760	Q15413-2;Q15413	.;RYR3_HUMAN	V	1760	ENSP00000373884:A1760V;ENSP00000399610:A1760V	ENSP00000354735:A1760V	A	+	2	0	RYR3	31742302	0.129000	0.22400	0.001000	0.08648	0.014000	0.08584	0.478000	0.22212	-0.100000	0.12241	-0.165000	0.13383	GCG		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	289	0	0	0	1	0	5	289					T	33955010	C	T	33955010	3	4	100	1	0	0	0	0	1	0	0	0	13820	768	27	1	5417	1	RYR3	15	33955010	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		33955010	68576382	31	34785											
CRISPLD2	83716	broad.mit.edu	37	chr16	84906612	84906612	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccagtcgtctagcatatgCcgcgccgccatccactacgg	10	17	1	0			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr16:84906612C>T	ENST00000262424.5	+	10	1220	c.996C>T	c.(994-996)tgC>tgT	p.C332C	CRISPLD2_ENST00000567845.1_Silent_p.C331C|CRISPLD2_ENST00000564567.1_Silent_p.C332C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	332	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.C332C(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTAGCATATGCCGCGCCGCCA	0.542																																						ENST00000262424.5																			1	Substitution - coding silent(1)	p.C332C(1)	prostate(1)	endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(994-996)tgC>tgT		cysteine-rich secretory protein LCCL domain containing 2							104	101	102					16																	84906612		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84906612C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.996C>T	16.37:g.84906612C>T						CRISPLD2_ENST00000567845.1_Silent_p.C331C|CRISPLD2_ENST00000564567.1_Silent_p.C332C	p.C332C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			10	1220	+			332			LCCL 1.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.996C>T	CCDS10949.1																																																																																				0.542	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		6	462	0	0	0	1	0	6	462					T	84906612	C	T	84906612	2	4	100	1	0	0	0	0	0	0	0	1	3892	747	26	2		2	CRISPLD2	16	84906612	Silent	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		84906612	5448141	32	34786											
SHMT1	6470	broad.mit.edu	37	chr17	18243536	18243536	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaatcttccgtagccggGcatattccaggtttcgggag	12	11	1	0			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:18243536G>A	ENST00000316694.3	-	7	769	c.635C>T	c.(634-636)gCc>gTc	p.A212V	SHMT1_ENST00000354098.3_Missense_Mutation_p.A212V|SHMT1_ENST00000539052.1_Missense_Mutation_p.A74V|SHMT1_ENST00000352886.6_Missense_Mutation_p.A212V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	212					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)	CCGTAGCCGGGCATATTCCAG	0.587																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(634-636)gCc>gTc		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						94	85	88					17																	18243536		2203	4300	6503	SO:0001583	missense	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18243536G>A		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.635C>T	17.37:g.18243536G>A	ENSP00000318868:p.Ala212Val					SHMT1_ENST00000354098.3_Missense_Mutation_p.A212V|SHMT1_ENST00000352886.6_Missense_Mutation_p.A212V|SHMT1_ENST00000539052.1_Missense_Mutation_p.A74V	p.A212V	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			7	769	-			212					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Missense_Mutation	SNP	ENST00000316694.3	37	c.635C>T	CCDS11196.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192529	0.58017	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.65	1.24	0.21308	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.455087	0.26522	N	0.023920	T	0.49372	0.1553	M	0.87097	2.86	0.28061	N	0.932986	B;B;B	0.30104	0.268;0.106;0.098	B;B;B	0.40565	0.333;0.101;0.137	T	0.54443	-0.8293	10	0.66056	D	0.02	-28.0739	11.7078	0.51607	0.0:0.1102:0.5751:0.3147	.	212;212;212	A8MYA6;P34896-2;P34896	.;.;GLYC_HUMAN	V	212;212;74;212;212	ENSP00000318868:A212V;ENSP00000345881:A212V;ENSP00000440089:A74V;ENSP00000318805:A212V	ENSP00000318868:A212V	A	-	2	0	SHMT1	18184261	0.913000	0.31002	0.006000	0.13384	0.646000	0.38490	2.468000	0.45102	0.089000	0.17243	0.655000	0.94253	GCC		0.587	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		5	345	0	0	0	1	0	5	345					A	18243536	G	A	18243536	3	1	100	1	0	0	0	0	1	0	0	0	14335	1203	42	2	840	2	SHMT1	17	18243536	Missense_Mutation	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08		18243536	62951674	33	34787											
WNT9B	7484	broad.mit.edu	37	chr17	44950050	44950050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagaccctgagggatgctgCgcacctcggcctgcttgagt	14	12	0	3			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:44950050C>T	ENST00000290015.2	+	2	298	c.245C>T	c.(244-246)gCg>gTg	p.A82V	WNT9B_ENST00000393461.2_Missense_Mutation_p.A82V	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	82					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGGATGCTGCGCACCTCGGC	0.662																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(244-246)gCg>gTg		wingless-type MMTV integration site family, member 9B							27	31	29					17																	44950050		2201	4300	6501	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44950050C>T	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.245C>T	17.37:g.44950050C>T	ENSP00000290015:p.Ala82Val					WNT9B_ENST00000290015.2_Missense_Mutation_p.A82V	p.A82V			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	298	+			82					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.245C>T	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	7.639	0.680487	0.14907	.	.	ENSG00000158955	ENST00000393461;ENST00000290015	T;T	0.76709	-1.04;-1.04	4.48	3.51	0.40186	.	0.183329	0.46442	D	0.000282	T	0.54447	0.1859	N	0.13299	0.325	0.32007	N	0.602586	B;B	0.18610	0.029;0.004	B;B	0.18871	0.023;0.011	T	0.50566	-0.8813	9	.	.	.	.	4.1265	0.10129	0.0:0.6832:0.0:0.3168	.	82;82	E7EPC3;O14905	.;WNT9B_HUMAN	V	82	ENSP00000377105:A82V;ENSP00000290015:A82V	.	A	+	2	0	WNT9B	42305049	0.998000	0.40836	0.178000	0.23040	0.590000	0.36582	3.492000	0.53259	2.488000	0.83962	0.455000	0.32223	GCG		0.662	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		4	136	0	0	0	1	0	4	136					T	44950050	C	T	44950050	3	4	100	1	0	0	0	0	1	0	0	0	17453	768	27	1	251	1	WNT9B	17	44950050	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	26706514	44950050	36245160	34	34788											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856336	62856336	+	Frame_Shift_Del	DEL	T	T	-													gtgggtcatgcgggagcgagTtttgtgaaagcggtattttt							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr17:62856336delT	ENST00000584306.1	-	11	4458	c.3928delA	c.(3928-3930)actfs	p.T1310fs	LRRC37A3_ENST00000339474.5_Frame_Shift_Del_p.T428fs|LRRC37A3_ENST00000319651.5_Frame_Shift_Del_p.T1310fs|LRRC37A3_ENST00000334962.5_Frame_Shift_Del_p.T287fs|LRRC37A3_ENST00000400877.3_Frame_Shift_Del_p.T348fs	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1310						integral component of membrane (GO:0016021)		p.T1310S(1)		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						CGGGAGCGAGTTTTGTGAAAG	0.418																																						ENST00000584306.1																			1	Substitution - Missense(1)	p.T1310S(1)	NS(1)	NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3928-3930)ctfs		leucine rich repeat containing 37, member A3							228	236	233					17																	62856336		2203	4300	6503	SO:0001589	frameshift_variant	374819					integral to membrane		g.chr17:62856336delT	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.3928delA	17.37:g.62856336delT	ENSP00000464535:p.Thr1310fs					LRRC37A3_ENST00000400877.3_Frame_Shift_Del_p.T348fs|LRRC37A3_ENST00000319651.5_Frame_Shift_Del_p.T1310fs|LRRC37A3_ENST00000334962.5_Frame_Shift_Del_p.T287fs|LRRC37A3_ENST00000339474.5_Frame_Shift_Del_p.T428fs	p.T1310fs	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4458	-			1310					Q49A01|Q49A80|Q8NB33	Frame_Shift_Del	DEL	ENST00000584306.1	37	c.3928delA	CCDS32708.1																																																																																				0.418	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		9	1221						9	1221	---	---	---	---	-	62856336	T	-	62856336	7	5	100	1	0	1	0	1	0	0	0	0	9031	1725	60	0	992	0	LRRC37A3	17	62856336	Frame_Shift_Del	DEL	T	TCGA-IB-AAUV-01A-11D-A38G-08	17906286	62856336	18338874	35	34789											
RTTN	25914	broad.mit.edu	37	chr18	67794755	67794755	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gacctgtttagtgcggtgtgCcaagccaaggacttcaaggt	13	9	1	0			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr18:67794755C>A	ENST00000255674.6	-	25	3652	c.3366G>T	c.(3364-3366)tgG>tgT	p.W1122C	RTTN_ENST00000437017.1_Missense_Mutation_p.W1122C|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1122					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)				GTGCGGTGTGCCAAGCCAAGG	0.463																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3364-3366)tgG>tgT		rotatin							63	59	60					18																	67794755		1977	4143	6120	SO:0001583	missense	25914						binding	g.chr18:67794755C>A	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.3366G>T	18.37:g.67794755C>A	ENSP00000255674:p.Trp1122Cys					RTTN_ENST00000437017.1_Missense_Mutation_p.W1122C|RTTN_ENST00000454359.1_3'UTR	p.W1122C	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			25	3652	-		Esophageal squamous(42;0.129)	1122					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.3366G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840728	0.71488	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.23950	1.88;1.88	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55717	-0.8097	10	0.87932	D	0	.	19.3103	0.94184	0.0:1.0:0.0:0.0	.	1122	Q86VV8	RTTN_HUMAN	C	1122	ENSP00000255674:W1122C;ENSP00000399520:W1122C	ENSP00000255674:W1122C	W	-	3	0	RTTN	65945735	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.414000	0.59802	2.558000	0.86282	0.650000	0.86243	TGG		0.463	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		4	168	1	0	0.00024832	1	0.000264341	4	168					A	67794755	C	A	67794755	3	1	100	1	0	0	0	0	1	0	0	0	13787	740	26	3	3414	3	RTTN	18	67794755	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		67794755	10282493	36	34790											
OR10H2	26538	broad.mit.edu	37	chr19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgctcctgggctggtggctCggtcatggggatggtggtga	19	8	1	1	rs139469467		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:15839311C>T	ENST00000305899.3	+	1	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(457-459)tCg>tTg		olfactory receptor, family 10, subfamily H, member 2							91	75	81					19																	15839311		2203	4300	6503	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839311C>T	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.458C>T	19.37:g.15839311C>T	ENSP00000306095:p.Ser153Leu						p.S153L	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	478	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		153					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.458C>T	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939686	0.02322	.	.	ENSG00000171942	ENST00000305899	T	0.00019	9.06	3.4	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	1.096810	0.07137	N	0.846687	T	0.00039	0.0001	N	0.02973	-0.45	0.09310	N	1	B	0.12630	0.006	B	0.19946	0.027	T	0.00510	-1.1697	10	0.10902	T	0.67	.	6.8361	0.23937	0.0:0.2906:0.0:0.7094	.	153	O60403	O10H2_HUMAN	L	153	ENSP00000306095:S153L	ENSP00000306095:S153L	S	+	2	0	OR10H2	15700311	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.238000	0.08977	-0.296000	0.08947	0.537000	0.68136	TCG		0.592	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			5	252	0	0	0	1	0	5	252					T	15839311	C	T	15839311	3	4	100	1	0	0	0	0	1	0	0	0	10948	893	31	1	460	1	OR10H2	19	15839311	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		15839311	43289672	37	34791											
SLC7A9	11136	broad.mit.edu	37	chr19	33355167	33355167	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaggtaggcggggatgggccCgtaggcctccatcaggtagg	19	9	1	0	rs121908480	byFrequency	TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:33355167C>A	ENST00000023064.4	-	4	504	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Missense_Mutation_p.G105W|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G105W	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	105			G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity; dbSNP:rs121908480). {ECO:0000269|PubMed:10471498, ECO:0000269|PubMed:11157794, ECO:0000269|PubMed:12234283}.		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)	p.G105W(1)		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)	GGGATGGGCCCGTAGGCCTCC	0.592																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			1	Substitution - Missense(1)	p.G105W(1)	lung(1)	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	GRCh37	CM992218	SLC7A9	M	rs121908480	c.(313-315)Ggg>Tgg		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						102	83	89					19																	33355167		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355167C>A	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.313G>T	19.37:g.33355167C>A	ENSP00000023064:p.Gly105Trp					SLC7A9_ENST00000587772.1_Missense_Mutation_p.G105W|SLC7A9_ENST00000590341.1_Missense_Mutation_p.G105W	p.G105W	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			4	504	-	Esophageal squamous(110;0.137)		105		G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity).			B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.313G>T	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047950	0.75846	.	.	ENSG00000021488	ENST00000023064	D	0.91407	-2.84	5.08	4.04	0.47022	Amino acid permease domain (1);	0.089561	0.85682	D	0.000000	D	0.96442	0.8839	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97595	1.0119	10	0.87932	D	0	.	15.912	0.79479	0.0:0.8643:0.1357:0.0	.	105	P82251	BAT1_HUMAN	W	105	ENSP00000023064:G105W	ENSP00000023064:G105W	G	-	1	0	SLC7A9	38047007	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	6.053000	0.71089	1.260000	0.44134	0.462000	0.41574	GGG		0.592	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			4	156	1	0	1	1	1	4	156					A	33355167	C	A	33355167	3	1	100	1	0	0	0	0	1	0	0	0	14755	652	23	3	1190	3	SLC7A9	19	33355167	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	17515856	33355167	25773816	38	34792											
ZNF181	339318	broad.mit.edu	37	chr19	35231932	35231932	+	Frame_Shift_Del	DEL	G	G	-													ttttgaattctaataaaagtGgggcagccttcagccagggc							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:35231932delG	ENST00000492450.1	+	4	735	c.646delG	c.(646-648)gggfs	p.G216fs	ZNF181_ENST00000459757.2_Frame_Shift_Del_p.G215fs|ZNF181_ENST00000392232.3_Frame_Shift_Del_p.G260fs			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAATAAAAGTGGGGCAGCCTT	0.358																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(778-780)ggfs		zinc finger protein 181							84	95	91					19																	35231932		2201	4299	6500	SO:0001589	frameshift_variant	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231932delG	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.646delG	19.37:g.35231932delG	ENSP00000420727:p.Gly216fs					ZNF181_ENST00000492450.1_Frame_Shift_Del_p.G216fs|ZNF181_ENST00000459757.1_Frame_Shift_Del_p.G215fs	p.G260fs			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	946	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		216					B7ZKX3|Q49A75	Frame_Shift_Del	DEL	ENST00000492450.1	37	c.778delG	CCDS32990.2																																																																																				0.358	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	619						7	619	---	---	---	---	-	35231932	G	-	35231932	7	5	100	1	0	1	0	1	0	0	0	0	17802	1348	47	0	660	0	ZNF181	19	35231932	Frame_Shift_Del	DEL	G	TCGA-IB-AAUV-01A-11D-A38G-08	1876765	35231932	23897051	39	34793											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462043	50462043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggaggggcccacggtctgtCcccaccgggtccagctcagc	15	16	2	0	rs201115105		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:50462043C>T	ENST00000447370.2	-	7	1310	c.1220G>A	c.(1219-1221)gGa>gAa	p.G407E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	407	Ig-like C2-type 3.				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)		CACGGTCTGTCCCCACCGGGT	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1219-1221)gGa>gAa		sialic acid binding Ig-like lectin 11							33	38	36					19																	50462043		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462043C>T	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1220G>A	19.37:g.50462043C>T	ENSP00000412361:p.Gly407Glu					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E	p.G407E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1310	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	407			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1220G>A	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.387|6.387	0.439559|0.439559	0.12104|0.12104	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000426971|ENST00000447370;ENST00000458019	.|T	.|0.15487	.|2.42	2.45|2.45	-4.91|-4.91	0.03085|0.03085	.|Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.|3.276290	.|0.00567	.|N	.|0.000300	T|T	0.18635|0.18635	0.0447|0.0447	M|M	0.66297|0.66297	2.02|2.02	0.09310|0.09310	N|N	1|1	.|B;B	.|0.32324	.|0.036;0.364	.|B;B	.|0.34722	.|0.063;0.188	T|T	0.21381|0.21381	-1.0247|-1.0247	5|10	.|0.40728	.|T	.|0.16	.|.	4.0021|4.0021	0.09584|0.09584	0.0:0.3472:0.3769:0.2759|0.0:0.3472:0.3769:0.2759	.|.	.|407;407	.|Q96RL6-2;Q96RL6	.|.;SIG11_HUMAN	N|E	397|407	.|ENSP00000412361:G407E	.|ENSP00000412361:G407E	D|G	-|-	1|2	0|0	SIGLEC11|SIGLEC11	55153855|55153855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.108000|-0.108000	0.10857|0.10857	-1.085000|-1.085000	0.03088|0.03088	-0.300000|-0.300000	0.09419|0.09419	GAC|GGA		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		5	238	0	0	0	1	0	5	238					T	50462043	C	T	50462043	3	4	100	1	0	0	0	0	1	0	0	0	14357	855	30	2	896	2	SIGLEC11	19	50462043	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08	15230111	50462043	8666940	40	34794											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	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)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	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.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	375	0	0	0	1	0	7	375					A	53855284	G	A	53855284	2	1	100	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08	3393241	53855284	5273699	41	34795											
BACE2	25825	broad.mit.edu	37	chr21	42613839	42613839	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgtgtggagccggcttgCccgttgctggatctgggacc	16	10	1	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr21:42613839C>T	ENST00000330333.6	+	4	1175	c.712C>T	c.(712-714)Ccc>Tcc	p.P238S	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.P238S|BACE2_ENST00000347667.5_Missense_Mutation_p.P238S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	238					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)				AGCCGGCTTGCCCGTTGCTGG	0.502																																						ENST00000330333.6																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(712-714)Ccc>Tcc		beta-site APP-cleaving enzyme 2							173	178	177					21																	42613839		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42613839C>T	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.712C>T	21.37:g.42613839C>T	ENSP00000332979:p.Pro238Ser					BACE2_ENST00000328735.6_Missense_Mutation_p.P238S|BACE2_ENST00000347667.4_Missense_Mutation_p.P238S|BACE2_ENST00000466122.1_3'UTR	p.P238S	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN			4	1175	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	238					A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.712C>T	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201262	0.38905	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.41758	0.99;0.99;0.99	5.53	5.53	0.82687	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.054012	0.85682	D	0.000000	T	0.32436	0.0829	L	0.29908	0.895	0.54753	D	0.999985	B;P;P	0.44195	0.015;0.828;0.559	B;B;B	0.36885	0.005;0.235;0.077	T	0.07028	-1.0794	10	0.32370	T	0.25	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	238;238;238	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	S	238;238;238;143	ENSP00000332979:P238S;ENSP00000327528:P238S;ENSP00000333854:P238S	ENSP00000333854:P238S	P	+	1	0	BACE2	41535709	1.000000	0.71417	0.917000	0.36280	0.573000	0.36030	3.314000	0.51943	2.605000	0.88082	0.655000	0.94253	CCC		0.502	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			7	760	0	0	0	1	0	7	760					T	42613839	C	T	42613839	3	4	100	1	0	0	0	0	1	0	0	0	1283	739	26	2	726	2	BACE2	21	42613839	Missense_Mutation	SNP	C	TCGA-IB-AAUV-01A-11D-A38G-08		42613839	5516056	42	34796											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51045410	51045410	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctgcggctgccatccccGcaacagctggtgagagtctg	12	14	2	1	rs368151558		TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chr22:51045410G>A	ENST00000399908.2	+	8	2212	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R470H|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R385H|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R499H|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R487H|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R764H	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	765					behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCATCCCCGCAACAGCTGG	0.612																																						ENST00000399908.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(1495-1497)cGc>cAc		mitogen-activated protein kinase 8 interacting protein 2							67	72	70					22																	51045410		2080	4211	6291	SO:0001583	missense	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51045410G>A	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"islet-brain 2", "JNK-interacting protein 2"	607755	"PRKM8 interacting protein-like"	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1496G>A	22.37:g.51045410G>A	ENSP00000382792:p.Arg499His					MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R470H|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R764H|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R487H|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R499H|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R385H	p.R499H	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	2212	+		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)	765					Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000399908.2	37	c.1496G>A		.	.	.	.	.	.	.	.	.	.	G	19.23	3.787841	0.70337	.	.	ENSG00000008735	ENST00000399912;ENST00000329492;ENST00000442429;ENST00000341339;ENST00000399908;ENST00000008876	T;T;T;T;T;T	0.19105	2.51;2.51;2.51;2.51;2.51;2.17	4.42	4.42	0.53409	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.055392	0.64402	D	0.000002	T	0.47173	0.1431	.	.	.	0.48632	D	0.999683	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.52555	-0.8560	9	0.87932	D	0	-12.3719	14.5639	0.68162	0.0:0.0:1.0:0.0	.	737;765	E7EQG6;Q13387	.;JIP2_HUMAN	H	499;764;487;385;499;470	ENSP00000382796:R499H;ENSP00000330572:R764H;ENSP00000404914:R487H;ENSP00000340015:R385H;ENSP00000382792:R499H;ENSP00000008876:R470H	ENSP00000008876:R470H	R	+	2	0	MAPK8IP2	49392276	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.743000	0.55104	2.276000	0.75962	0.462000	0.41574	CGC		0.612	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000316731.2	NM_012324		5	296	0	0	0	1	0	5	296					A	51045410	G	A	51045410	3	1	100	1	0	0	0	0	1	0	0	0	9326	1087	38	1	2421	1	MAPK8IP2	22	51045410	Missense_Mutation	SNP	G	TCGA-IB-AAUV-01A-11D-A38G-08		51045410	259156	43	34797											
PRPS2	5634	broad.mit.edu	37	chrX	12827359	12827360	+	Frame_Shift_Ins	INS	-	-	C													ttcttacttgtagagtcgtgINSccccaatttctgcaaaactt							TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chrX:12827359_12827360insC	ENST00000380668.5	+	3	441_442	c.313_314insC	c.(313-315)gccfs	p.A105fs	PRPS2_ENST00000489404.1_Frame_Shift_Ins_p.A105fs|PRPS2_ENST00000398491.2_Frame_Shift_Ins_p.A108fs	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	105					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						GTAGAGTCGTGCCCCAATTTCT	0.436																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(313-315)cccfs		phosphoribosyl pyrophosphate synthetase 2																																				SO:0001589	frameshift_variant	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12827359_12827360insC	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.317dupC	X.37:g.12827363_12827363dupC	ENSP00000370043:p.Ala105fs					PRPS2_ENST00000489404.1_Frame_Shift_Ins_p.P105fs|PRPS2_ENST00000398491.2_Frame_Shift_Ins_p.P108fs	p.P105fs	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			3	441_442	+			105					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Frame_Shift_Ins	INS	ENST00000380668.5	37	c.313_314insC	CCDS14150.1																																																																																				0.436	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		7	284						7	284	---	---	---	---	C	12827360	-	C	12827359	7	5	100	1	0	1	1	0	0	0	0	0	12627	1319	46	0	332	0	PRPS2	23	12827359	Frame_Shift_Ins	INS	-	TCGA-IB-AAUV-01A-11D-A38G-08		12827359	142443201	44	34798											
DACH2	117154	broad.mit.edu	37	chrX	85950147	85950147	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattgggggtgctccaacccTcaatccactgcagcagaacc	9	15	1	1			TCGA-IB-AAUV-01A-11D-A38G-08	TCGA-IB-AAUV-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7	2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7	g.chrX:85950147T>C	ENST00000373125.4	+	5	896	c.896T>C	c.(895-897)cTc>cCc	p.L299P	DACH2_ENST00000373131.1_Missense_Mutation_p.L286P|DACH2_ENST00000510272.1_Missense_Mutation_p.L80P|DACH2_ENST00000508860.1_Missense_Mutation_p.L132P	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	299					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						GCTCCAACCCTCAATCCACTG	0.483																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(856-858)cTc>cCc		dachshund homolog 2 (Drosophila)							62	46	51					X																	85950147		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85950147T>C	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.896T>C	X.37:g.85950147T>C	ENSP00000362217:p.Leu299Pro					DACH2_ENST00000508860.1_Missense_Mutation_p.L132P|DACH2_ENST00000373125.4_Missense_Mutation_p.L299P|DACH2_ENST00000510272.1_Missense_Mutation_p.L80P	p.L286P	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			4	1020	+			299					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.857T>C	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	t	11.32	1.604904	0.28623	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.91521	-2.83;-2.86	4.99	3.83	0.44106	.	0.101850	0.42682	N	0.000662	D	0.92580	0.7643	L	0.53249	1.67	0.80722	D	1	D;P;P	0.89917	1.0;0.909;0.482	D;B;B	0.71184	0.972;0.331;0.078	D	0.90892	0.4762	10	0.51188	T	0.08	.	9.5587	0.39355	0.0:0.084:0.0:0.9159	.	165;286;299	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	P	299;286;299;132;80;132	ENSP00000362223:L286P;ENSP00000362217:L299P	ENSP00000345134:L299P	L	+	2	0	DACH2	85836803	1.000000	0.71417	0.926000	0.36857	0.625000	0.37756	5.315000	0.65810	0.591000	0.29711	0.414000	0.27820	CTC		0.483	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		3	64	0	0	0	1	0	3	64					C	85950147	T	C	85950147	3	2	100	1	0	0	0	0	1	0	0	0	4232	1551	54	4	914	4	DACH2	23	85950147	Missense_Mutation	SNP	T	TCGA-IB-AAUV-01A-11D-A38G-08	73122788	85950147	69320413	45	34799											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907820	12907820	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agccatagtccaagtcaaaaGaggagccgtacatctccgct	9	12	2	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:12907820G>T	ENST00000317869.6	-	2	548	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		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	108						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						CAAGTCAAAAGAGGAGCCGTA	0.493																																						ENST00000317869.6																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						c.(322-324)tCt>tAt		heterogeneous nuclear ribonucleoprotein C-like 1							106	101	103					1																	12907820		2203	4300	6503	SO:0001583	missense	343069							g.chr1:12907820G>T	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.323C>A	1.37:g.12907820G>T	ENSP00000365370:p.Ser108Tyr						p.S108Y	NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1					2	548	-								B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.323C>A	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	5.656	0.305586	0.10678	.	.	ENSG00000179172	ENST00000317869	T	0.11385	2.78	0.926	0.926	0.19430	.	0.306916	0.25091	U	0.033219	T	0.10723	0.0262	M	0.73962	2.25	0.43508	D	0.995763	P	0.37061	0.58	B	0.37601	0.254	T	0.12656	-1.0539	10	0.13470	T	0.59	.	5.218	0.15354	0.0:0.0:1.0:0.0	.	108	O60812	HNRCL_HUMAN	Y	108	ENSP00000365370:S108Y	ENSP00000365370:S108Y	S	-	2	0	HNRNPCL1	12830407	1.000000	0.71417	0.965000	0.40720	0.056000	0.15407	2.787000	0.47798	0.814000	0.34374	0.173000	0.16961	TCT		0.493	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		10	535	1	0	0.335167	1	0.340573	10	535					T	12907820	G	T	12907820	3	4	101	1	0	0	0	0	1	0	0	0	7293	942	33	3	560	3	HNRNPCL1	1	12907820	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		12907820	236342801	1	34800											
C1orf172	126695	broad.mit.edu	37	chr1	27278809	27278809	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccagacatagctctgttggCcgctcccacggtcccaagcg	10	16	1	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:27278809C>T	ENST00000320567.5	-	2	151	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		21	Pro-rich.				developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCTGTTGGCCGCTCCCACG	0.647																																						ENST00000320567.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(61-63)cgG>cgA		chromosome 1 open reading frame 172							33	36	35					1																	27278809		2168	4233	6401	SO:0001819	synonymous_variant	126695							g.chr1:27278809C>T																												ENST00000320567.5:c.63G>A	1.37:g.27278809C>T							p.R21R	NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)	2	151	-		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)	21			Pro-rich.		Q5QP32|Q8N0S7	Silent	SNP	ENST00000320567.5	37	c.63G>A	CCDS293.1																																																																																				0.647	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012340.1			5	279	0	0	0	1	0	5	279					T	27278809	C	T	27278809	2	4	101	1	0	0	0	0	0	0	0	1	2020	726	26	2		2	C1orf172	1	27278809	Silent	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08	14370989	27278809	221971812	2	34801											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	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.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			10	564						10	564	---	---	---	---	-	44071948	GCG	-	44071946	7	5	101	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-IB-AAUW-01A-12D-A38G-08	16793137	44071946	205178675	3	34802											
ZCCHC11	23318	broad.mit.edu	37	chr1	52991403	52991403	+	Frame_Shift_Del	DEL	T	T	-													agaagtaaaggagcttggaaTtttttttccaatctgttgta					rs180741095		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:52991403delT	ENST00000371544.3	-	2	812	c.550delA	c.(550-552)attfs	p.I184fs	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	184					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						GAGCTTGGAATTTTTTTTCCA	0.408																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(550-552)ttfs		zinc finger, CCHC domain containing 11							164	171	169					1																	52991403		2203	4300	6503	SO:0001589	frameshift_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991403delT	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.550delA	1.37:g.52991403delT	ENSP00000360599:p.Ile184fs					ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs	p.I184fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	812	-			184					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	c.550delA	CCDS30716.1																																																																																				0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		7	1193						7	1193	---	---	---	---	-	52991403	T	-	52991403	7	5	101	1	0	1	0	1	0	0	0	0	17633	1493	52	0	4503	0	ZCCHC11	1	52991403	Frame_Shift_Del	DEL	T	TCGA-IB-AAUW-01A-12D-A38G-08	8919457	52991403	196259218	4	34803											
ELTD1	64123	broad.mit.edu	37	chr1	79387352	79387352	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcaggtgattacagcgGcatgaggtgtgggtctcatt	15	6	2	2			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:79387352G>A	ENST00000370742.3	-	9	1266	c.1203C>T	c.(1201-1203)tgC>tgT	p.C401C		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	401	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)			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)		GATTACAGCGGCATGAGGTGT	0.413																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1201-1203)tgC>tgT		EGF, latrophilin and seven transmembrane domain containing 1							161	155	157					1																	79387352		1993	4170	6163	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387352G>A	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.1203C>T	1.37:g.79387352G>A							p.C401C	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1266	-			401			GPS.		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1203C>T	CCDS41352.1																																																																																				0.413	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		5	412	0	0	0	1	0	5	412					A	79387352	G	A	79387352	2	1	101	1	0	0	0	0	0	0	0	1	5102	1195	42	2		2	ELTD1	1	79387352	Silent	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	26395949	79387352	169863269	5	34804											
PMF1	9673	broad.mit.edu	37	chr1	156182850	156182850	+	IGR	DEL	A	A	-													tctaggcagcggctgtgaggAaaaaaggcatgaggggtcgt							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:156182850delA	ENST00000359511.4	+	0	3482				PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.E15fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368279.3_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368277.3_Frame_Shift_Del_p.E15fs|PMF1_ENST00000565805.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.E15fs	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						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)					GGCTGTGAGGAAAAAAGGCAT	0.572																																						ENST00000368277.3																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(43-45)gafs		polyamine-modulated factor 1							99	90	93					1																	156182850		2203	4300	6503	SO:0001628	intergenic_variant	11243							g.chr1:156182850delA	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		1.37:g.156182850delA						PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000567140.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Del_p.E15fs|PMF1_ENST00000466489.1_3'UTR|PMF1_ENST00000368279.3_Frame_Shift_Del_p.E15fs|PMF1_ENST00000368273.4_Frame_Shift_Del_p.E15fs|PMF1_ENST00000565805.1_Frame_Shift_Del_p.E15fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Del_p.E15fs	p.E15fs	NM_007221.3	NP_009152.2					1	53	+	Hepatocellular(266;0.158)							O75034	Frame_Shift_Del	DEL	ENST00000359511.4	37	c.44delA	CCDS1133.1																																																																																				0.572	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1	NM_014655		7	344						7	344	---	---	---	---	-	156182850	A	-	156182850	6	5	101	0	1	1	0	1	0	0	0	0	12175	246	9	0		0	PMF1	1	156182850	IGR	DEL	A	TCGA-IB-AAUW-01A-12D-A38G-08	76795498	156182850	93067771	6	34805											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-													atgtgcagcacagaccttggAaaaaaggggtaaaggcaagt							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1924-1926)gafs		zinc finger CCCH-type containing 11A							55	54	54					1																	203819140		2203	4300	6503	SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203819140delA		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1925delA	1.37:g.203819140delA	ENSP00000438527:p.Glu642fs					ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs	p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		14	5752	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		642					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Del	DEL	ENST00000545588.1	37	c.1925delA	CCDS30978.1																																																																																				0.418	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		7	409						7	409	---	---	---	---	-	203819140	A	-	203819140	7	5	101	1	0	1	0	1	0	0	0	0	17613	246	9	0	1975	0	ZC3H11A	1	203819140	Frame_Shift_Del	DEL	A	TCGA-IB-AAUW-01A-12D-A38G-08	47636290	203819140	45431481	7	34806											
OR2G6	391211	broad.mit.edu	37	chr1	248685682	248685682	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacctgttcgtctcacctGgttgtggtcatcattttcta	10	10	4	0			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr1:248685682G>A	ENST00000343414.4	+	1	767	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	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)|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)			CGTCTCACCTGGTTGTGGTCA	0.438																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(733-735)ctG>ctA		olfactory receptor, family 2, subfamily G, member 6							116	117	117					1																	248685682		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685682G>A		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.735G>A	1.37:g.248685682G>A							p.L245L	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	767	+	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)	245					B2RP33	Silent	SNP	ENST00000343414.4	37	c.735G>A	CCDS31119.1																																																																																				0.438	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		12	614	0	0	0	1	0	12	614					A	248685682	G	A	248685682	2	1	101	1	0	0	0	0	0	0	0	1	11042	1335	47	2		2	OR2G6	1	248685682	Silent	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	44866542	248685682	564939	8	34807											
BIRC6	57448	broad.mit.edu	37	chr2	32706462	32706462	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcaggatctaatggaagttGacattgatcctttagatatt	8	5	2	3			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:32706462G>A	ENST00000421745.2	+	38	7617	c.7483G>A	c.(7483-7485)Gac>Aac	p.D2495N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2495					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)					AATGGAAGTTGACATTGATCC	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(7483-7485)Gac>Aac		baculoviral IAP repeat containing 6							85	88	87					2																	32706462		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32706462G>A	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.7483G>A	2.37:g.32706462G>A	ENSP00000393596:p.Asp2495Asn						p.D2495N	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			38	7617	+	Acute lymphoblastic leukemia(172;0.155)		2495					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.7483G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945596	0.73672	.	.	ENSG00000115760	ENST00000421745	T	0.76839	-1.05	5.31	5.31	0.75309	.	0.059209	0.64402	D	0.000005	T	0.77877	0.4196	N	0.24115	0.695	0.53688	D	0.999977	D	0.58268	0.982	P	0.54270	0.747	T	0.81059	-0.1104	10	0.66056	D	0.02	.	18.9683	0.92706	0.0:0.0:1.0:0.0	.	2495	Q9NR09	BIRC6_HUMAN	N	2495	ENSP00000393596:D2495N	ENSP00000393596:D2495N	D	+	1	0	BIRC6	32559966	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.849000	0.86908	2.501000	0.84356	0.460000	0.39030	GAC		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		5	266	0	0	0	1	0	5	266					A	32706462	G	A	32706462	3	1	101	1	0	0	0	0	1	0	0	0	1440	1290	45	2	7633	2	BIRC6	2	32706462	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		32706462	210492911	9	34808											
PDCL3	79031	broad.mit.edu	37	chr2	101188240	101188240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtcctctggtgtttggcgGcatgaacctgacaagagatg	14	8	1	3			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:101188240G>A	ENST00000264254.6	+	5	935	c.557G>A	c.(556-558)gGc>gAc	p.G186D		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	186	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTGTTTGGCGGCATGAACCTG	0.498																																						ENST00000264254.6																			0				endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						c.(556-558)gGc>gAc		phosducin-like 3							112	123	119					2																	101188240		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101188240G>A	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.557G>A	2.37:g.101188240G>A	ENSP00000264254:p.Gly186Asp						p.G186D	NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN			5	935	+			186					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.557G>A	CCDS33261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	32|32	5.147325|5.147325	0.94603|0.94603	.|.	.|.	ENSG00000115539|ENSG00000115539	ENST00000450127|ENST00000264254	.|T	.|0.19250	.|2.16	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Thioredoxin-like fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52693|0.52693	0.1750|0.1750	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D	.|0.52996	.|0.957	.|D	.|0.66196	.|0.942	T|T	0.62058|0.62058	-0.6934|-0.6934	5|10	.|0.87932	.|D	.|0	-20.1092|-20.1092	18.4609|18.4609	0.90737|0.90737	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|186	.|Q9H2J4	.|PDCL3_HUMAN	T|D	134|186	.|ENSP00000264254:G186D	.|ENSP00000264254:G186D	A|G	+|+	1|2	0|0	PDCL3|PDCL3	100554672|100554672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.835000|9.835000	0.99442|0.99442	2.436000|2.436000	0.82500|0.82500	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.498	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		6	630	0	0	0	1	0	6	630					A	101188240	G	A	101188240	3	1	101	1	0	0	0	0	1	0	0	0	11670	1203	42	2	575	2	PDCL3	2	101188240	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	68481778	101188240	142011133	10	34809											
ANKAR	150709	broad.mit.edu	37	chr2	190592627	190592627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaattgctgaggttgggcGtgacaataaggaaattcagg	14	5	1	2			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:190592627G>A	ENST00000520309.1	+	13	2769	c.2681G>A	c.(2680-2682)cGt>cAt	p.R894H	ANKAR_ENST00000313581.4_Missense_Mutation_p.R894H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R669H|ANKAR_ENST00000438402.2_Missense_Mutation_p.R894H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R823H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	894						integral component of membrane (GO:0016021)		p.R823H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAGGTTGGGCGTGACAATAAG	0.373																																						ENST00000520309.1																			1	Substitution - Missense(1)	p.R823H(1)	large_intestine(1)	breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2680-2682)cGt>cAt		ankyrin and armadillo repeat containing							104	108	107					2																	190592627		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190592627G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2681G>A	2.37:g.190592627G>A	ENSP00000427882:p.Arg894His					ANKAR_ENST00000438402.2_Missense_Mutation_p.R894H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R823H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R894H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R669H	p.R894H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		13	2769	+			894					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2681G>A	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704006	0.48412	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.43	4.56	0.56223	.	0.000000	0.64402	D	0.000003	T	0.44371	0.1290	L	0.57536	1.79	0.40096	D	0.976317	.	.	.	.	.	.	T	0.46062	-0.9218	8	0.62326	D	0.03	-15.5907	13.4495	0.61163	0.0766:0.0:0.9234:0.0	.	.	.	.	H	894;894;894;823;669	ENSP00000427882:R894H;ENSP00000313513:R894H;ENSP00000397243:R894H;ENSP00000393043:R823H;ENSP00000281412:R669H	ENSP00000281412:R669H	R	+	2	0	ANKAR	190300872	1.000000	0.71417	0.174000	0.22961	0.966000	0.64601	3.995000	0.57001	1.531000	0.49152	-0.244000	0.11960	CGT		0.373	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		7	336	0	0	0	1	0	7	336					A	190592627	G	A	190592627	3	1	101	1	0	0	0	0	1	0	0	0	623	1145	40	1	2727	1	ANKAR	2	190592627	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	89404387	190592627	52606746	11	34810											
RQCD1	9125	broad.mit.edu	37	chr2	219447753	219447754	+	In_Frame_Ins	INS	-	-	ATT													tgacagcacaccagtctaacINSagagtttgcaatgctctggc							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:219447753_219447754insATT	ENST00000273064.6	+	3	639_640	c.264_265insATT	c.(265-267)aga>ATTaga	p.88_89insI	RQCD1_ENST00000295701.5_In_Frame_Ins_p.88_89insI|RQCD1_ENST00000509807.2_In_Frame_Ins_p.88_89insI|RQCD1_ENST00000542068.1_In_Frame_Ins_p.88_89insI	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	88					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.N88K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGTCTAACAGAGTTTGCAA	0.391																																						ENST00000273064.6																			1	Substitution - Missense(1)	p.N88K(1)	ovary(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15						c.(262-267)aagagt>aaATTgagt		RCD1 required for cell differentiation1 homolog (S. pombe)																																				SO:0001652	inframe_insertion	9125				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr2:219447753_219447754insATT	D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"cancer/testis antigen 129"	612054	"rcd1 (required for cell differentiation, S.pombe) homolog 1"			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	Exception_encountered	2.37:g.219447753_219447754insATT	ENSP00000273064:p.Asn88_Arg89insIle					RQCD1_ENST00000509807.2_In_Frame_Ins_p.88_89KS>KLS|RQCD1_ENST00000295701.5_In_Frame_Ins_p.88_89KS>KLS|RQCD1_ENST00000542068.1_In_Frame_Ins_p.88_89KS>KLS	p.88_89KS>KLS	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	639_640	+		Renal(207;0.0915)	88					B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	In_Frame_Ins	INS	ENST00000273064.6	37	c.264_265insATT	CCDS33379.1																																																																																				0.391	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1	NM_005444		22	561						22	561	---	---	---	---	ATT	219447754	-	ATT	219447753	7	5	101	1	0	1	1	0	0	0	0	0	13720	477	17	0	274	0	RQCD1	2	219447753	In_Frame_Ins	INS	-	TCGA-IB-AAUW-01A-12D-A38G-08	28855126	219447753	23751620	12	34811											
NGEF	25791	broad.mit.edu	37	chr2	233785144	233785146	+	In_Frame_Del	DEL	CTC	CTC	-													ctctctggtgggctggccggCtcctcctcctcctcctcttc							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr2:233785144_233785146delCTC	ENST00000264051.3	-	5	954_956	c.676_678delGAG	c.(676-678)gagdel	p.E226del	NGEF_ENST00000409079.1_In_Frame_Del_p.E134del|NGEF_ENST00000373552.4_In_Frame_Del_p.E134del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGGCCGGctcctcctcctcc	0.586																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(676-678)del		neuronal guanine nucleotide exchange factor																																				SO:0001651	inframe_deletion	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233785144_233785146delCTC	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.676_678delGAG	2.37:g.233785153_233785155delCTC	ENSP00000264051:p.Glu226del					NGEF_ENST00000373552.4_In_Frame_Del_p.E134del|NGEF_ENST00000409079.1_In_Frame_Del_p.E134del	p.E226del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	5	954_956	-		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)	226			Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	In_Frame_Del	DEL	ENST00000264051.3	37	c.676_678delGAG	CCDS2500.1																																																																																				0.586	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		7	301						7	301	---	---	---	---	-	233785146	CTC	-	233785144	7	5	101	1	0	1	0	1	0	0	0	0	10436	796	28	0	1498	0	NGEF	2	233785144	In_Frame_Del	DEL	CTC	TCGA-IB-AAUW-01A-12D-A38G-08	14337391	233785144	9414229	13	34812											
DHX30	22907	broad.mit.edu	37	chr3	47891156	47891156	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cggagccgatggctgacgtaTttcatggcagtcaagtccaa	12	10	2	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr3:47891156T>C	ENST00000445061.1	+	21	3635	c.3228T>C	c.(3226-3228)taT>taC	p.Y1076Y	DHX30_ENST00000446256.2_Silent_p.Y1037Y|DHX30_ENST00000348968.4_Silent_p.Y1048Y|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Silent_p.Y1104Y	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1076						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)		GGCTGACGTATTTCATGGCAG	0.627																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(3109-3111)taT>taC		DEAH (Asp-Glu-Ala-His) box helicase 30							88	80	83					3																	47891156		2203	4300	6503	SO:0001819	synonymous_variant	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47891156T>C	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.3228T>C	3.37:g.47891156T>C						DHX30_ENST00000457607.1_Silent_p.Y1104Y|DHX30_ENST00000445061.1_Silent_p.Y1076Y|DHX30_ENST00000348968.4_Silent_p.Y1048Y	p.Y1037Y	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	22	3683	+			1076					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	ENST00000445061.1	37	c.3111T>C	CCDS2759.1																																																																																				0.627	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		13	283	0	0	0	1	0	13	283					C	47891156	T	C	47891156	2	2	101	1	0	0	0	0	0	0	0	1	4520	1500	52	4		4	DHX30	3	47891156	Silent	SNP	T	TCGA-IB-AAUW-01A-12D-A38G-08		47891156	150131274	14	34813											
LRBA	987	broad.mit.edu	37	chr4	151223826	151223827	+	Frame_Shift_Ins	INS	-	-	A													ttccattccaataccacagcINSaaaagagttgcatcacgtga							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr4:151223826_151223827insA	ENST00000357115.3	-	54	8243_8244	c.8000_8001insT	c.(7999-8001)ttgfs	p.L2667fs	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Ins_p.L2656fs|LRBA_ENST00000535741.1_Frame_Shift_Ins_p.L2656fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2667						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)					AATACCACAGCAAAAGAGTTGC	0.416																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7966-7968)tctfs		LPS-responsive vesicle trafficking, beach and anchor containing																																				SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151223826_151223827insA	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.8001dupT	4.37:g.151223830_151223830dupA	ENSP00000349629:p.Leu2667fs					LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Frame_Shift_Ins_p.S2656fs|LRBA_ENST00000357115.3_Frame_Shift_Ins_p.S2667fs	p.S2656fs			P50851	LRBA_HUMAN			53	8440_8441	-	all_hematologic(180;0.151)		2667					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Ins	INS	ENST00000357115.3	37	c.7967_7968insT	CCDS3773.1																																																																																				0.416	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			10	542						10	542	---	---	---	---	A	151223827	-	A	151223826	7	5	101	1	0	1	1	0	0	0	0	0	8969	709	25	0	610	0	LRBA	4	151223826	Frame_Shift_Ins	INS	-	TCGA-IB-AAUW-01A-12D-A38G-08		151223826	39930450	15	34814											
PJA2	9867	broad.mit.edu	37	chr5	108717235	108717235	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcctttggaacatcatctagTtccaacacttcatagtcatc	4	12	4	0			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr5:108717235T>C	ENST00000361189.2	-	3	440	c.201A>G	c.(199-201)gaA>gaG	p.E67E	PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_Silent_p.E67E	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	67					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)		CATCATCTAGTTCCAACACTT	0.323																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(199-201)gaA>gaG		praja ring finger 2, E3 ubiquitin protein ligase							97	90	92					5																	108717235		2202	4300	6502	SO:0001819	synonymous_variant	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108717235T>C	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.201A>G	5.37:g.108717235T>C						PJA2_ENST00000361557.3_Silent_p.E67E|PJA2_ENST00000511624.1_5'UTR	p.E67E	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	3	440	-		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)	67					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Silent	SNP	ENST00000361189.2	37	c.201A>G	CCDS4099.1																																																																																				0.323	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		9	294	0	0	0	1	0	9	294					C	108717235	T	C	108717235	2	2	101	1	0	0	0	0	0	0	0	1	12004	1722	60	4		4	PJA2	5	108717235	Silent	SNP	T	TCGA-IB-AAUW-01A-12D-A38G-08		108717235	72198025	16	34815											
AFF4	27125	broad.mit.edu	37	chr5	132232616	132232616	+	Frame_Shift_Del	DEL	T	T	-													cagcagctgccttctcagccTttttgggttgttttttgcct							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr5:132232616delT	ENST00000265343.5	-	11	2085	c.1706delA	c.(1705-1707)aagfs	p.K569fs	AFF4_ENST00000378595.3_Frame_Shift_Del_p.K569fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	569					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)			CTTCTCAGCCTTTTTGGGTTG	0.507																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(1705-1707)agfs		AF4/FMR2 family, member 4							101	103	102					5																	132232616		2203	4300	6503	SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132232616delT	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.1706delA	5.37:g.132232616delT	ENSP00000265343:p.Lys569fs					AFF4_ENST00000378595.3_Frame_Shift_Del_p.K569fs	p.K569fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2085	-		all_cancers(142;0.145)|Breast(839;0.198)	569					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	37	c.1706delA	CCDS4164.1																																																																																				0.507	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		7	560						7	560	---	---	---	---	-	132232616	T	-	132232616	7	5	101	1	0	1	0	1	0	0	0	0	359	1609	56	0	1829	0	AFF4	5	132232616	Frame_Shift_Del	DEL	T	TCGA-IB-AAUW-01A-12D-A38G-08	23515381	132232616	48682644	17	34816											
PCDHB6	56130	broad.mit.edu	37	chr5	140531966	140531966	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgttcgtggcggtgCggctgtgcaggaggagcagg	19	9	0	0			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr5:140531966C>T	ENST00000231136.1	+	1	2128	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R574W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	710					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)			CGTGGCGGTGCGGCTGTGCAG	0.677																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2128-2130)Cgg>Tgg									75	89	84					5																	140531966		2198	4283	6481	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531966C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2128C>T	5.37:g.140531966C>T	ENSP00000231136:p.Arg710Trp					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R574W	p.R710W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2128	+			710					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2128C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796466	0.70567	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.17054	2.3;2.3	4.55	-1.63	0.08345	.	.	.	.	.	T	0.45418	0.1341	H	0.95004	3.61	0.22050	N	0.999398	D	0.89917	1.0	D	0.78314	0.991	T	0.23190	-1.0195	9	0.87932	D	0	.	5.5847	0.17267	0.6595:0.1597:0.0938:0.087	.	710	Q9Y5E3	PCDB6_HUMAN	W	574;710	ENSP00000438466:R574W;ENSP00000231136:R710W	ENSP00000231136:R710W	R	+	1	2	PCDHB6	140512150	0.000000	0.05858	0.919000	0.36401	0.965000	0.64279	-0.041000	0.12084	0.036000	0.15547	-0.323000	0.08544	CGG		0.677	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		8	947	0	0	0	1	0	8	947					T	140531966	C	T	140531966	3	4	101	1	0	0	0	0	1	0	0	0	11588	759	27	1	2130	1	PCDHB6	5	140531966	Missense_Mutation	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08	8299350	140531966	40383294	18	34817											
KCNK5	8645	broad.mit.edu	37	chr6	39162508	39162508	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacagaagaggcgaccggcGggggtcttgggagccacatt	16	10	1	2	rs200810816		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:39162508G>A	ENST00000359534.3	-	3	665	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	109					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						GGCGACCGGCGGGGGTCTTGG	0.592													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.0					ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(325-327)ccC>ccT		potassium channel, subfamily K, member 5							55	66	62					6																	39162508		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162508G>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.327C>T	6.37:g.39162508G>A							p.P109P	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			3	665	-			109					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.327C>T	CCDS4841.1																																																																																				0.592	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		8	368	0	0	0	1	0	8	368					A	39162508	G	A	39162508	2	1	101	1	0	0	0	0	0	0	0	1	8099	1103	39	1		1	KCNK5	6	39162508	Silent	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		39162508	131952559	19	34818											
PRDM13	59336	broad.mit.edu	37	chr6	100057076	100057076	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcccagatcttctaccgagCattgcgagacgtccagccag	10	14	2	2			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:100057076C>A	ENST00000369215.4	+	3	595	c.290C>A	c.(289-291)gCa>gAa	p.A97E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	97	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TTCTACCGAGCATTGCGAGAC	0.507																																						ENST00000369214.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(319-321)gCa>gAa		PR domain containing 13							56	61	59					6																	100057076		2086	4229	6315	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100057076C>A	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.290C>A	6.37:g.100057076C>A	ENSP00000358217:p.Ala97Glu					PRDM13_ENST00000369215.4_Missense_Mutation_p.A97E	p.A107E	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	3	581	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	97			SET.		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.320C>A	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467575	0.63625	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	D;D	0.91894	-2.93;-2.93	5.51	5.51	0.81932	SET domain (2);	0.000000	0.39020	N	0.001493	D	0.92808	0.7713	L	0.49126	1.545	0.38884	D	0.956973	D	0.63880	0.993	P	0.56343	0.796	D	0.93400	0.6759	10	0.72032	D	0.01	-4.6232	19.0824	0.93187	0.0:1.0:0.0:0.0	.	97	Q9H4Q3	PRD13_HUMAN	E	97;107	ENSP00000358217:A97E;ENSP00000358216:A107E	ENSP00000358216:A107E	A	+	2	0	PRDM13	100163797	1.000000	0.71417	0.957000	0.39632	0.984000	0.73092	5.518000	0.67068	2.620000	0.88729	0.456000	0.33151	GCA		0.507	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			4	115	1	0	1	1	1	4	115					A	100057076	C	A	100057076	3	1	101	1	0	0	0	0	1	0	0	0	12501	710	25	3	300	3	PRDM13	6	100057076	Missense_Mutation	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08	60894568	100057076	71057991	20	34819											
AKD1	221264	broad.mit.edu	37	chr6	109980432	109980434	+	Splice_Site	DEL	TCT	TCT	-													ttacctattgagatattaccTcttcttcttcttgctcttct							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:109980432_109980434delTCT	ENST00000424296.2	-	7	703_705	c.627_629delAGA	c.(625-630)gaagag>gag	p.209_210EE>E	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Splice_Site_p.209_210EE>E|AK9_ENST00000368948.2_Splice_Site_p.209_210EE>E	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	209	Adenylate kinase 1.|Glu-rich.				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)										AGATATTACCtcttcttcttctt	0.35																																						ENST00000424296.2																			0											c.e7+1		adenylate kinase 9			,	17,4247		0,17,2115					,	4.4	1			142	11,8243		0,11,4116	no	coding-near-splice,coding-near-splice	AKD1	NM_145025.4,NM_001145128.2	,	0,28,6231	A1A1,A1R,RR		0.1333,0.3987,0.2237	,	,		28,12490				SO:0001630	splice_region_variant	221264							g.chr6:109980432_109980434delTCT	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.630+1AGA>-	6.37:g.109980441_109980443delTCT						AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Splice_Site_p.EE209_splice|AK9_ENST00000368948.2_Splice_Site_p.EE209_splice	p.EE209_splice	NM_001145128.2	NP_001138600.2					7	703_705	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	DEL	ENST00000424296.2	37	c.630_splice	CCDS55048.1																																																																																				0.35	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	In_Frame_Del	8	518						8	518	---	---	---	---	-	109980434	TCT	-	109980432	8	5	101	1	0	1	0	1	0	0	1	0	460	1565	54	0	5258	0	AKD1	6	109980432	Splice_Site	DEL	TCT	TCGA-IB-AAUW-01A-12D-A38G-08	9923356	109980432	61134635	21	34820											
IPCEF1	26034	broad.mit.edu	37	chr6	154489200	154489200	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atagactagcttgctctaatGatttgtacagcttctccatt	6	9	2	2			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:154489200G>A	ENST00000265198.4	-	11	1111	c.956C>T	c.(955-957)tCa>tTa	p.S319L	IPCEF1_ENST00000422970.2_Missense_Mutation_p.S320L|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S291L|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S320L|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	319					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TTGCTCTAATGATTTGTACAG	0.358																																						ENST00000265198.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						c.(955-957)tCa>tTa		interaction protein for cytohesin exchange factors 1							207	201	203					6																	154489200		2203	4300	6503	SO:0001583	missense	26034							g.chr6:154489200G>A	AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"Pleckstrin homology (PH) domain containing"	21204	protein-coding gene	gene with protein product	"phosphoinositide binding protein PIP3-E"					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.956C>T	6.37:g.154489200G>A	ENSP00000265198:p.Ser319Leu					IPCEF1_ENST00000519344.1_Missense_Mutation_p.S291L|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S320L|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S320L	p.S319L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1					11	1111	-								A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Missense_Mutation	SNP	ENST00000265198.4	37	c.956C>T	CCDS5245.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068581	0.76301	.	.	ENSG00000074706	ENST00000265198;ENST00000422970;ENST00000367220;ENST00000519344	T;T;T;T	0.15718	2.4;2.4;2.4;2.42	5.57	5.57	0.84162	.	0.130451	0.52532	D	0.000063	T	0.31104	0.0786	M	0.67953	2.075	0.27301	N	0.957577	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.71656	0.882;0.973;0.974	T	0.05370	-1.0889	10	0.46703	T	0.11	-17.5544	19.5657	0.95391	0.0:0.0:1.0:0.0	.	319;320;291	Q8WWN9;Q8WWN9-2;G3V132	ICEF1_HUMAN;.;.	L	319;320;320;291	ENSP00000265198:S319L;ENSP00000394751:S320L;ENSP00000356189:S320L;ENSP00000430287:S291L	ENSP00000265198:S319L	S	-	2	0	IPCEF1	154530892	1.000000	0.71417	0.953000	0.39169	0.716000	0.41182	5.784000	0.68990	2.630000	0.89119	0.591000	0.81541	TCA		0.358	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042789.2	NM_001130699		17	1366	0	0	0	1	0	17	1366					A	154489200	G	A	154489200	3	1	101	1	0	0	0	0	1	0	0	0	7821	1294	45	2	365	2	IPCEF1	6	154489200	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	44508768	154489200	16625867	22	34821											
RBM16	22828	broad.mit.edu	37	chr6	155153620	155153620	+	Frame_Shift_Del	DEL	T	T	-													catccaccaccccgtggaccTtttcctccaggagatatttt							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr6:155153620delT	ENST00000367178.3	+	20	3483	c.2907delT	c.(2905-2907)cctfs	p.P969fs	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	969	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCCGTGGACCTTTTCCTCCAG	0.473																																						ENST00000367178.3																			0				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						c.(2905-2907)ccfs		SR-related CTD-associated factor 8							106	116	113					6																	155153620		2203	4300	6503	SO:0001589	frameshift_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155153620delT	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.2907delT	6.37:g.155153620delT	ENSP00000356146:p.Pro969fs					SCAF8_ENST00000417268.1_Frame_Shift_Del_p.P969fs|SCAF8_ENST00000367186.4_Frame_Shift_Del_p.P1035fs	p.P969fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			20	3483	+			969			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Frame_Shift_Del	DEL	ENST00000367178.3	37	c.2907delT	CCDS5247.1																																																																																				0.473	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		9	1016						9	1016	---	---	---	---	-	155153620	T	-	155153620	7	5	101	1	0	1	0	1	0	0	0	0	13168	1596	56	0	2985	0	RBM16	6	155153620	Frame_Shift_Del	DEL	T	TCGA-IB-AAUW-01A-12D-A38G-08	664420	155153620	15961447	23	34822											
MPP6	51678	broad.mit.edu	37	chr7	24705665	24705666	+	Frame_Shift_Ins	INS	-	-	A													tttgtggaactataagtagcINSaaaaaaaagaaaaagatgat							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr7:24705665_24705666insA	ENST00000222644.5	+	8	1159_1160	c.909_910insA	c.(910-912)aaafs	p.K304fs	MPP6_ENST00000409761.1_Frame_Shift_Ins_p.K192fs|MPP6_ENST00000396475.2_Frame_Shift_Ins_p.K304fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(907-912)agaaaafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)																																				SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705665_24705666insA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.917dupA	7.37:g.24705673_24705673dupA	ENSP00000222644:p.Lys304fs					MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs	p.RK303fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1208_1209	+			303					B2RAF0	Frame_Shift_Ins	INS	ENST00000222644.5	37	c.909_910insA	CCDS5388.1																																																																																				0.302	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			7	840						7	840	---	---	---	---	A	24705666	-	A	24705665	7	5	101	1	0	1	1	0	0	0	0	0	9779	709	25	0	935	0	MPP6	7	24705665	Frame_Shift_Ins	INS	-	TCGA-IB-AAUW-01A-12D-A38G-08		24705665	134432998	24	34823											
RAMP3	10268	broad.mit.edu	37	chr7	45222927	45222927	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagacgaggttctcatcccGctgatcgttatacccgtcgt	9	14	1	2			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr7:45222927G>A	ENST00000242249.4	+	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	RAMP3_ENST00000481345.1_Silent_p.P121P|RAMP3_ENST00000496212.1_Silent_p.P121P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	121					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TTCTCATCCCGCTGATCGTTA	0.622																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(361-363)ccG>ccA		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)						129	123	125					7																	45222927		2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222927G>A	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.363G>A	7.37:g.45222927G>A						RAMP3_ENST00000496212.1_Silent_p.P121P|RAMP3_ENST00000481345.1_Silent_p.P121P	p.P121P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	401	+			121					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.363G>A	CCDS5503.1																																																																																				0.622	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		11	636	0	0	0	1	0	11	636					A	45222927	G	A	45222927	2	1	101	1	0	0	0	0	0	0	0	1	13073	1074	38	1		1	RAMP3	7	45222927	Silent	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	20517262	45222927	113915736	25	34824											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	194	0	0	0	1	0	5	194					G	114269973	A	G	114269973	2	3	101	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-IB-AAUW-01A-12D-A38G-08	69047046	114269973	44868690	26	34825											
ASH2L	9070	broad.mit.edu	37	chr8	37978568	37978568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atccgcacgcccctgaccccGagaagctggaacttgactgc	10	16	0	3			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr8:37978568G>A	ENST00000343823.6	+	10	1375	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	ASH2L_ENST00000521652.1_Missense_Mutation_p.E262K|ASH2L_ENST00000545394.1_Missense_Mutation_p.E217K|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000250635.7_Missense_Mutation_p.E262K|RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000428278.2_Missense_Mutation_p.E262K	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	356					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CCCTGACCCCGAGAAGCTGGA	0.532											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343823.6																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(1066-1068)Gag>Aag		ash2 (absent, small, or homeotic)-like (Drosophila)							119	115	117					8																	37978568		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37978568G>A	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1066G>A	8.37:g.37978568G>A	ENSP00000340896:p.Glu356Lys		OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	874	ASH2L_ENST00000521652.1_Missense_Mutation_p.E262K|ASH2L_ENST00000428278.2_Missense_Mutation_p.E262K|ASH2L_ENST00000545394.1_Missense_Mutation_p.E217K|ASH2L_ENST00000250635.7_Missense_Mutation_p.E262K	p.E356K	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			10	1375	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	356					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.1066G>A	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580018	0.86645	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);	0.043549	0.85682	D	0.000000	T	0.68760	0.3036	L	0.42245	1.32	0.80722	D	1	P;P	0.50943	0.737;0.94	B;B	0.38264	0.124;0.269	T	0.74166	-0.3753	10	0.62326	D	0.03	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	262;356	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	K	356;262;217;262;262	ENSP00000340896:E356K;ENSP00000250635:E262K;ENSP00000443606:E217K;ENSP00000395310:E262K;ENSP00000430259:E262K	ENSP00000250635:E262K	E	+	1	0	ASH2L	38097725	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.799000	0.99117	2.660000	0.90430	0.655000	0.94253	GAG		0.532	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		6	428	0	0	0	1	0	6	428					A	37978568	G	A	37978568	3	1	101	1	0	0	0	0	1	0	0	0	1043	1059	37	1	1104	1	ASH2L	8	37978568	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		37978568	108385454	27	34826											
FLJ46321	389763	broad.mit.edu	37	chr9	84606551	84606551	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttcattcttctgaggcctTtttaggggggcactctgtgg	12	10	4	1	rs376549982		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr9:84606551T>C	ENST00000344803.2	+	4	1213	c.1166T>C	c.(1165-1167)tTt>tCt	p.F389S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	389					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGAGGCCTTTTTAGGGGGG	0.473																																						ENST00000344803.2																			0											c.(1165-1167)tTt>tCt		SPATA31 subfamily D, member 1							109	96	100					9																	84606551		1844	4089	5933	SO:0001583	missense	389763							g.chr9:84606551T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1166T>C	9.37:g.84606551T>C	ENSP00000341988:p.Phe389Ser						p.F389S	NM_001001670.2	NP_001001670.1					4	1213	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1166T>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.591898	0.00864	.	.	ENSG00000214929	ENST00000344803	T	0.04156	3.69	2.87	-2.57	0.06248	.	2.194420	0.02232	N	0.064965	T	0.01353	0.0044	N	0.00313	-1.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	10	0.19590	T	0.45	-2.0064	4.1319	0.10152	0.1638:0.4916:0.0:0.3445	.	389	Q6ZQQ2	F75D1_HUMAN	S	389	ENSP00000341988:F389S	ENSP00000341988:F389S	F	+	2	0	FAM75D1	83796371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.302000	0.08221	-0.612000	0.05701	-0.734000	0.03567	TTT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		7	224	0	0	0	1	0	7	224					C	84606551	T	C	84606551	3	2	101	1	0	0	0	0	1	0	0	0	5957	1841	64	4	1180	4	FLJ46321	9	84606551	Missense_Mutation	SNP	T	TCGA-IB-AAUW-01A-12D-A38G-08		84606551	56606880	28	34827											
RGS3	5998	broad.mit.edu	37	chr9	116356341	116356341	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aatttttttttccgctccccCtcctggtccctcccatttcc	3	18	0	0			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr9:116356341C>A	ENST00000374140.2	+	23	3289				RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.L48I|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCGCTCCCCCTCCTGGTCCC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(142-144)Ctc>Atc		regulator of G-protein signaling 3							90	103	99					9																	116356341		2203	4300	6503	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356341C>A	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-369C>A	9.37:g.116356341C>A						RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron	p.L48I	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	576	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.142C>A	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861597	0.17178	.	.	ENSG00000138835	ENST00000462403	T	0.61627	0.09	5.42	-1.9	0.07665	.	.	.	.	.	T	0.31918	0.0812	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	0.87932	D	0	.	5.4837	0.16737	0.0889:0.2997:0.4534:0.1579	.	48	Q5VZ06	.	I	48	ENSP00000436168:L48I	ENSP00000436168:L48I	L	+	1	0	RGS3	115396162	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.902000	0.04088	-0.299000	0.08909	-0.821000	0.03111	CTC		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		18	823	1	0	6.49762e-13	1	7.44273e-13	18	823					A	116356341	C	A	116356341	1	1	101	0	1	0	0	0	0	0	0	0	13356	681	24	3		3	RGS3	9	116356341	Intron	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08	31749790	116356341	24857090	29	34828											
HNRNPF	3185	broad.mit.edu	37	chr10	43883011	43883011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacgaagccatcgttggCgctgtcggcactgttgggac	14	13	0	0			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:43883011C>T	ENST00000544000.1	-	4	729	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	HNRNPF_ENST00000357065.4_Missense_Mutation_p.A108T|HNRNPF_ENST00000443950.2_Missense_Mutation_p.A108T|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A108T	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	108					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						CCATCGTTGGCGCTGTCGGCA	0.522																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(322-324)Gcc>Acc		heterogeneous nuclear ribonucleoprotein F							160	127	138					10																	43883011		2203	4300	6503	SO:0001583	missense	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43883011C>T		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.322G>A	10.37:g.43883011C>T	ENSP00000438061:p.Ala108Thr					HNRNPF_ENST00000357065.4_Missense_Mutation_p.A108T|HNRNPF_ENST00000356053.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000337970.3_Missense_Mutation_p.A108T|HNRNPF_ENST00000544000.1_Missense_Mutation_p.A108T	p.A108T	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	808	-			108					B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	c.322G>A	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844871	0.32606	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	3.9	2.05	0.26809	.	0.162293	0.53938	N	0.000049	T	0.20740	0.0499	L	0.43923	1.385	0.49299	D	0.999776	B	0.25850	0.136	B	0.23018	0.043	T	0.05115	-1.0905	10	0.14656	T	0.56	-8.8589	8.2846	0.31922	0.0:0.798:0.0:0.202	.	108	P52597	HNRPF_HUMAN	T	108;108;108;108;108;31	ENSP00000438061:A108T;ENSP00000400433:A108T;ENSP00000348345:A108T;ENSP00000349573:A108T;ENSP00000338477:A108T	ENSP00000338477:A108T	A	-	1	0	HNRNPF	43203017	1.000000	0.71417	0.959000	0.39883	0.922000	0.55478	6.668000	0.74457	0.619000	0.30197	0.561000	0.74099	GCC		0.522	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			6	473	0	0	0	1	0	6	473					T	43883011	C	T	43883011	3	4	101	1	0	0	0	0	1	0	0	0	7295	768	27	1	929	1	HNRNPF	10	43883011	Missense_Mutation	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08		43883011	91651736	30	34829											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		9	240						9	240	---	---	---	---	-	46969403	CAG	-	46969401	7	5	101	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-IB-AAUW-01A-12D-A38G-08	3086390	46969401	88565346	31	34830											
DDX50	79009	broad.mit.edu	37	chr10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A													tggagatatagatgaatatgINSaaaaaaaatcaaagcgagta							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						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						AGATGAATATGAAAAAAAATCA	0.307																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(313-315)aaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50																																				SO:0001589	frameshift_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666692_70666693insA	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.321dupA	10.37:g.70666700_70666700dupA	ENSP00000362687:p.Glu105fs						p.K105fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	420_421	+			105					Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Ins	INS	ENST00000373585.3	37	c.313_314insA	CCDS7283.1																																																																																				0.307	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		7	767						7	767	---	---	---	---	A	70666693	-	A	70666692	7	5	101	1	0	1	1	0	0	0	0	0	4379	1291	45	0	319	0	DDX50	10	70666692	Frame_Shift_Ins	INS	-	TCGA-IB-AAUW-01A-12D-A38G-08	23697291	70666692	64868055	32	34831											
C10orf57	80195	broad.mit.edu	37	chr10	81841638	81841639	+	Frame_Shift_Ins	INS	-	-	G													gtatcccttatcagaaccttINSgggcccctgggccccttcac							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:81841638_81841639insG	ENST00000372281.3	+	2	159_160	c.129_130insG	c.(130-132)gggfs	p.G44fs	TMEM254-AS1_ENST00000432070.2_RNA|TMEM254_ENST00000372275.1_Frame_Shift_Ins_p.G44fs|TMEM254-AS1_ENST00000412298.1_RNA|TMEM254_ENST00000372277.3_Frame_Shift_Ins_p.G44fs|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372274.1_Frame_Shift_Ins_p.G44fs	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	44						integral component of membrane (GO:0016021)											ATCAGAACCTTGGGCCCCTGGG	0.505																																						ENST00000372281.3																			0											c.(127-132)ctggccfs		transmembrane protein 254																																				SO:0001589	frameshift_variant	80195							g.chr10:81841638_81841639insG	BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 57"	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.132dupG	10.37:g.81841641_81841641dupG	ENSP00000361355:p.Gly44fs					TMEM254_ENST00000372274.1_Frame_Shift_Ins_p.A44fs|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372275.1_Frame_Shift_Ins_p.A44fs|TMEM254_ENST00000372277.3_Frame_Shift_Ins_p.A44fs	p.A44fs	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2					2	159_160	+								D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Frame_Shift_Ins	INS	ENST00000372281.3	37	c.129_130insG	CCDS7363.1																																																																																				0.505	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049030.1	NM_025125		8	696						8	696	---	---	---	---	G	81841639	-	G	81841638	7	5	101	1	0	1	1	0	0	0	0	0	1614	1799	63	0	135	0	C10orf57	10	81841638	Frame_Shift_Ins	INS	-	TCGA-IB-AAUW-01A-12D-A38G-08	11174946	81841638	53693109	33	34832											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798647	119798647	+	Frame_Shift_Del	DEL	T	T	-													ttatcagatcttctgctatcTttttttccagtcactctttc					rs35192242		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr10:119798647delT	ENST00000355624.3	-	3	1540	c.1101delA	c.(1099-1101)aaafs	p.K367fs	RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.K367fs|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	367					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTCTGCTATCTTTTTTTCCAG	0.343																																						ENST00000355624.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1099-1101)aafs		RAB11 family interacting protein 2 (class I)							194	211	205					10																	119798647		2203	4300	6503	SO:0001589	frameshift_variant	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798647delT	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1101delA	10.37:g.119798647delT	ENSP00000347839:p.Lys367fs					RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Frame_Shift_Del_p.K367fs	p.K367fs	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1540	-		Colorectal(252;0.235)	367					A6NEI4|Q3I768|Q9Y2F0	Frame_Shift_Del	DEL	ENST00000355624.3	37	c.1101delA	CCDS7602.1																																																																																				0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		7	861						7	861	---	---	---	---	-	119798647	T	-	119798647	7	5	101	1	0	1	0	1	0	0	0	0	12944	1606	56	0	449	0	RAB11FIP2	10	119798647	Frame_Shift_Del	DEL	T	TCGA-IB-AAUW-01A-12D-A38G-08	37957009	119798647	15736100	34	34833											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651116	1651127	+	In_Frame_Del	DEL	GGCCGTGGCTCC	GGCCGTGGCTCC	-													gctgtggctccggctgtggaGgccgtggctccggctgtggg					rs66665994		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:1651116_1651127delGGCCGTGGCTCC	ENST00000399676.2	+	1	84_95	c.46_57delGGCCGTGGCTCC	c.(46-57)ggccgtggctccdel	p.GRGS16del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	16						keratin filament (GO:0045095)		p.R17C(2)|p.R17L(2)		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)		cggctgtggaggccgtggctccggctgtgggg	0.693																																						ENST00000399676.2																			4	Substitution - Missense(4)	p.R17C(2)|p.R17L(2)	ovary(1)|lung(1)|large_intestine(1)|endometrium(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(46-57)del		keratin associated protein 5-5				60,4170		3,54,2058						-1.5	0.8			32	107,8101		1,105,3998	no	coding	KRTAP5-5	NM_001001480.2		4,159,6056	A1A1,A1R,RR		1.3036,1.4184,1.3427				167,12271				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651116_1651127delGGCCGTGGCTCC	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.46_57delGGCCGTGGCTCC	11.37:g.1651116_1651127delGGCCGTGGCTCC	ENSP00000382584:p.Gly16_Ser19del						p.GRGS16del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	84_95	+		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)	16					A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.46_57delGGCCGTGGCTCC	CCDS41592.1																																																																																				0.693	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			12	754						12	754	---	---	---	---	-	1651127	GGCCGTGGCTCC	-	1651116	7	5	101	1	0	1	0	1	0	0	0	0	8595	1000	35	0	48	0	KRTAP5-5	11	1651116	In_Frame_Del	DEL	GGCCGTGGCTCC	TCGA-IB-AAUW-01A-12D-A38G-08		1651116	133355400	35	34834											
AMPD3	272	broad.mit.edu	37	chr11	10523050	10523050	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacgttcctgttccggccGcactgtggggaagccggctc	14	14	0	0			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:10523050G>A	ENST00000396554.3	+	12	2123	c.1782G>A	c.(1780-1782)ccG>ccA	p.P594P	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000444303.2_Silent_p.P426P	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	585					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGTTCCGGCCGCACTGTGGGG	0.632																																						ENST00000444303.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1276-1278)ccG>ccA		adenosine monophosphate deaminase 3							50	42	44					11																	10523050		2201	4294	6495	SO:0001819	synonymous_variant	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10523050G>A	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"erythrocyte-specific AMP deaminase"	102772	"adenosine monophosphate deaminase (isoform E)"			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1782G>A	11.37:g.10523050G>A						AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.P594P	p.P426P	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	11	1750	+			585					A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	ENST00000396554.3	37	c.1278G>A	CCDS7802.1																																																																																				0.632	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480		4	172	0	0	0	1	0	4	172					A	10523050	G	A	10523050	2	1	101	1	0	0	0	0	0	0	0	1	587	1074	38	1		1	AMPD3	11	10523050	Silent	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	8871934	10523050	124483466	36	34835											
PPFIA1	8500	broad.mit.edu	37	chr11	70194407	70194407	+	Frame_Shift_Del	DEL	C	C	-													ttagatcaatgagctccattCccccctaccctgcttcctcg							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr11:70194407delC	ENST00000253925.7	+	16	2259	c.2044delC	c.(2044-2046)cccfs	p.P683fs	PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	683					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)			GAGCTCCATTCCCCCCTACCC	0.557																																						ENST00000253925.7																			0				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						c.(2044-2046)ccfs		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							235	199	211					11																	70194407		2200	4294	6494	SO:0001589	frameshift_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70194407delC	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.2044delC	11.37:g.70194407delC	ENSP00000253925:p.Pro683fs					PPFIA1_ENST00000389547.3_Frame_Shift_Del_p.P683fs|AP000487.6_ENST00000528607.1_RNA	p.P683fs	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		16	2259	+			683					A6NLE3|Q13135|Q14567|Q8N4I2	Frame_Shift_Del	DEL	ENST00000253925.7	37	c.2044delC	CCDS31627.1																																																																																				0.557	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		7	1182						7	1182	---	---	---	---	-	70194407	C	-	70194407	7	5	101	1	0	1	0	1	0	0	0	0	12351	855	30	0	2102	0	PPFIA1	11	70194407	Frame_Shift_Del	DEL	C	TCGA-IB-AAUW-01A-12D-A38G-08	59671357	70194407	64812109	37	34836											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		5	306	1	0	0.000602214	1	0.000654129	5	306					A	25398284	C	A	25398284	3	1	101	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08		25398284	108453611	38	34837											
VPS29	51699	broad.mit.edu	37	chr12	110930880	110930881	+	Frame_Shift_Del	DEL	TG	TG	-													atgctcaaatgcttcaaattTgtgtgtgtgtcccgagataa							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr12:110930880_110930881delTG	ENST00000549578.1	-	3	416_417	c.351_352delCA	c.(349-354)cacaaafs	p.HK117fs	VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs|VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	117					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCTTCAAATTTGTGTGTGTGTC	0.421																																						ENST00000549578.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(349-354)caaafs		vacuolar protein sorting 29 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110930880_110930881delTG	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"vacuolar protein sorting 29 (yeast homolog)", "vacuolar protein sorting 29 (yeast)"			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.351_352delCA	12.37:g.110930888_110930889delTG	ENSP00000447058:p.His117fs					VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs	p.HK117fs	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN			3	416_417	-			117					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Frame_Shift_Del	DEL	ENST00000549578.1	37	c.351_352delCA	CCDS41832.1																																																																																				0.421	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			8	374						8	374	---	---	---	---	-	110930881	TG	-	110930880	7	5	101	1	0	1	0	1	0	0	0	0	17254	1821	63	0	204	0	VPS29	12	110930880	Frame_Shift_Del	DEL	TG	TCGA-IB-AAUW-01A-12D-A38G-08	85532596	110930880	22921015	39	34838											
TPCN1	53373	broad.mit.edu	37	chr12	113707611	113707613	+	In_Frame_Del	DEL	CTG	CTG	-													cgcccttcatggacatcctcCtgctgctgctgttcttcatg							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr12:113707611_113707613delCTG	ENST00000335509.6	+	7	1023_1025	c.709_711delCTG	c.(709-711)ctgdel	p.L240del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L312del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	240					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)	p.L237L(1)		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						GGACATCCTCCTGCTGCTGCTGT	0.601																																						ENST00000550785.1																			1	Substitution - coding silent(1)	p.L237L(1)	large_intestine(1)	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						c.(925-927)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113707611_113707613delCTG	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.709_711delCTG	12.37:g.113707620_113707622delCTG	ENSP00000335300:p.Leu240del					TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L240del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del	p.L312del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			8	1094_1096	+			240					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.925_927delCTG	CCDS31908.1																																																																																				0.601	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		7	545						7	545	---	---	---	---	-	113707613	CTG	-	113707611	7	5	101	1	0	1	0	1	0	0	0	0	16448	680	24	0	951	0	TPCN1	12	113707611	In_Frame_Del	DEL	CTG	TCGA-IB-AAUW-01A-12D-A38G-08	2776731	113707611	20144284	40	34839											
HSPH1	10808	broad.mit.edu	37	chr13	31712990	31712990	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttcttcaaacatttttggCcgttcttcagcttcctgaaa	6	10	4	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr13:31712990C>T	ENST00000320027.5	-	16	2480	c.2136G>A	c.(2134-2136)cgG>cgA	p.R712R	HSPH1_ENST00000380406.5_Silent_p.R671R|HSPH1_ENST00000380405.4_Silent_p.R668R|HSPH1_ENST00000445273.2_Silent_p.R714R|HSPH1_ENST00000429785.2_Silent_p.R531R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	712					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACATTTTTGGCCGTTCTTCAG	0.343																																						ENST00000320027.5																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(2134-2136)cgG>cgA		heat shock 105kDa/110kDa protein 1							91	90	90					13																	31712990		2203	4299	6502	SO:0001819	synonymous_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31712990C>T	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2136G>A	13.37:g.31712990C>T						HSPH1_ENST00000429785.2_Silent_p.R531R|HSPH1_ENST00000445273.2_Silent_p.R714R|HSPH1_ENST00000380405.4_Silent_p.R668R|HSPH1_ENST00000380406.5_Silent_p.R671R	p.R712R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	16	2480	-		Lung SC(185;0.0257)	712					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	ENST00000320027.5	37	c.2136G>A	CCDS9340.1																																																																																				0.343	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			7	640	0	0	0	1	0	7	640					T	31712990	C	T	31712990	2	4	101	1	0	0	0	0	0	0	0	1	7461	726	26	2		2	HSPH1	13	31712990	Silent	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08		31712990	83456888	41	34840											
DHRS7	51635	broad.mit.edu	37	chr14	60620745	60620745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcggtcaggtcaagggGcaaaacaagtatatcttttt	11	6	3	0	rs375832095		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr14:60620745G>A	ENST00000216500.5	-	4	780	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.P109S|DHRS7_ENST00000536410.2_Missense_Mutation_p.P59S|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'Flank			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	109						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		AGGTCAAGGGGCAAAACAAGT	0.398																																						ENST00000216500.5																			0				endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(325-327)Ccc>Tcc		dehydrogenase/reductase (SDR family) member 7		G	SER/PRO	0,4406		0,0,2203	102	105	104		325	6.2	1	14		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHRS7	NM_016029.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	109/340	60620745	1,13005	2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60620745G>A	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	21524	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 4", "short chain dehydrogenase/reductase family 34C, member 1"	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.325C>T	14.37:g.60620745G>A	ENSP00000216500:p.Pro109Ser					DHRS7_ENST00000536410.2_Missense_Mutation_p.P59S|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000557185.1_Missense_Mutation_p.P109S	p.P109S			Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	4	780	-			109					B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.325C>T	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535731	0.85812	0.0	1.16E-4	ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	D;D;D	0.87103	-2.21;-2.21;-2.21	6.16	6.16	0.99307	NAD(P)-binding domain (1);	0.154690	0.64402	D	0.000015	D	0.90304	0.6967	L	0.28649	0.875	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.945;0.983	D	0.88764	0.3259	10	0.40728	T	0.16	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	109;109	F8W9Q4;Q9Y394	.;DHRS7_HUMAN	S	109;109;109;59	ENSP00000216500:P109S;ENSP00000451882:P109S;ENSP00000442993:P59S	ENSP00000216500:P109S	P	-	1	0	DHRS7	59690498	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.197000	0.94985	2.937000	0.99478	0.650000	0.86243	CCC		0.398	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		5	293	0	0	0	1	0	5	293					A	60620745	G	A	60620745	3	1	101	1	0	0	0	0	1	0	0	0	4511	1203	42	2	714	2	DHRS7	14	60620745	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		60620745	46728795	42	34841											
RBM25	58517	broad.mit.edu	37	chr14	73574574	73574576	+	In_Frame_Del	DEL	ATG	ATG	-													aaaagaattcttagaagactAtgatgatgatagagatgacc							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr14:73574574_73574576delATG	ENST00000261973.7	+	13	1793_1795	c.1508_1510delATG	c.(1507-1512)tatgat>tat	p.D506del	RBM25_ENST00000527432.1_In_Frame_Del_p.D506del|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	506	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TTAGAAGACTATGATGATGATAG	0.33																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1507-1512)tat>t		RNA binding motif protein 25																																				SO:0001651	inframe_deletion	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73574574_73574576delATG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1508_1510delATG	14.37:g.73574580_73574582delATG	ENSP00000261973:p.Asp506del					RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_In_Frame_Del_p.YD503del	p.YD503del	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	13	1793_1795	+			503			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	In_Frame_Del	DEL	ENST00000261973.7	37	c.1508_1510delATG	CCDS32113.1																																																																																				0.33	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		8	1265						8	1265	---	---	---	---	-	73574576	ATG	-	73574574	7	5	101	1	0	1	0	1	0	0	0	0	13175	449	16	0	1554	0	RBM25	14	73574574	In_Frame_Del	DEL	ATG	TCGA-IB-AAUW-01A-12D-A38G-08	12953829	73574574	33774966	43	34842											
ARNT2	9915	broad.mit.edu	37	chr15	80845046	80845046	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacagagttcttatcccgGcataactccgatggaatcat	7	13	2	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr15:80845046G>A	ENST00000303329.4	+	10	1185	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000533983.1_Silent_p.R329R|ARNT2_ENST00000527771.1_Silent_p.R329R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	340	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TCTTATCCCGGCATAACTCCG	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(985-987)cgG>cgA		aryl-hydrocarbon receptor nuclear translocator 2							169	142	151					15																	80845046		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80845046G>A	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1020G>A	15.37:g.80845046G>A						ARNT2_ENST00000527771.1_Silent_p.R329R|ARNT2_ENST00000303329.4_Silent_p.R340R	p.R329R			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		11	1326	+			340			PAS 2.		B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.987G>A	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			5	378	0	0	0	1	0	5	378					A	80845046	G	A	80845046	2	1	101	1	0	0	0	0	0	0	0	1	967	1190	42	2		2	ARNT2	15	80845046	Silent	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		80845046	21686346	44	34843											
DNAH3	55567	broad.mit.edu	37	chr16	21051256	21051256	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcatggccactgtccGgaacaaggcctggaaaagaa	11	11	1	1	rs141534193		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr16:21051256G>A	ENST00000261383.3	-	33	4647	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1550	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R1550W(2)		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)		GCCACTGTCCGGAACAAGGCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		23531	0.001		0.0	False		,,,				2504	0.0					ENST00000261383.3																			2	Substitution - Missense(2)	p.R1550W(2)	lung(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4648-4650)Cgg>Tgg		dynein, axonemal, heavy chain 3		G	TRP/ARG	0,4402		0,0,2201	116	105	109		4648	4.5	1	16	dbSNP_134	109	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DNAH3	NM_017539.1	101	0,6,6495	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	1550/4117	21051256	6,12996	2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21051256G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4648C>T	16.37:g.21051256G>A	ENSP00000261383:p.Arg1550Trp					DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	33	4647	-			1550			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4648C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162239	0.78226	0.0	6.98E-4	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.15256	2.44;2.44	5.48	4.5	0.54988	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.62478	0.2431	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79614	-0.1730	10	0.87932	D	0	.	13.3483	0.60587	0.0:0.0:0.6813:0.3187	.	1550	Q8TD57	DYH3_HUMAN	W	1550	ENSP00000261383:R1550W;ENSP00000394245:R1550W	ENSP00000261383:R1550W	R	-	1	2	DNAH3	20958757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.607000	0.54102	1.351000	0.45789	0.650000	0.86243	CGG		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	326	0	0	0	1	0	7	326					A	21051256	G	A	21051256	3	1	101	1	0	0	0	0	1	0	0	0	4619	1115	39	1	7821	1	DNAH3	16	21051256	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		21051256	69303497	45	34844											
IRF8	3394	broad.mit.edu	37	chr16	85942713	85942713	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attttgaggaagtgacggacCggtcccaactggacatttcc	11	10	0	2			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr16:85942713C>T	ENST00000268638.5	+	3	714	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	IRF8_ENST00000563180.1_Missense_Mutation_p.R98W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	98					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTGACGGACCGGTCCCAACT	0.458																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(292-294)Cgg>Tgg		interferon regulatory factor 8							64	63	64					16																	85942713		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85942713C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"interferon consensus sequence binding protein 1"	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.292C>T	16.37:g.85942713C>T	ENSP00000268638:p.Arg98Trp					IRF8_ENST00000563180.1_Missense_Mutation_p.R98W	p.R98W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			3	714	+		Prostate(104;0.0771)	98					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.292C>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969719	0.74246	.	.	ENSG00000140968	ENST00000268638	D	0.98028	-4.67	4.97	4.97	0.65823	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.125725	0.53938	D	0.000052	D	0.98723	0.9571	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99201	1.0873	10	0.72032	D	0.01	-33.9604	12.8225	0.57700	0.2736:0.7264:0.0:0.0	.	98;98	B2R8V7;Q02556	.;IRF8_HUMAN	W	98	ENSP00000268638:R98W	ENSP00000268638:R98W	R	+	1	2	IRF8	84500214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.266000	0.43320	2.485000	0.83878	0.555000	0.69702	CGG		0.458	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		6	306	0	0	0	1	0	6	306					T	85942713	C	T	85942713	3	4	101	1	0	0	0	0	1	0	0	0	7866	643	23	1	298	1	IRF8	16	85942713	Missense_Mutation	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08	64891457	85942713	4412040	46	34845											
ERN1	2081	broad.mit.edu	37	chr17	62130655	62130655	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagggagtggaggtggGccaggcccgaggtggtctgc	21	7	1	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr17:62130655G>A	ENST00000433197.3	-	16	2125	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V		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						GTGGAGGTGGGCCAGGCCCGA	0.612																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2029-2031)gCc>gTc		endoplasmic reticulum to nucleus signaling 1							56	62	60					17																	62130655		2039	4193	6232	SO:0001583	missense	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62130655G>A	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.2030C>T	17.37:g.62130655G>A	ENSP00000401445:p.Ala677Val						p.A677V	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			16	2125	-			677			Protein kinase.			Missense_Mutation	SNP	ENST00000433197.3	37	c.2030C>T	CCDS45762.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668806	0.88348	.	.	ENSG00000178607	ENST00000433197	T	0.67345	-0.26	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058929	0.64402	D	0.000002	T	0.62332	0.2419	L	0.42744	1.35	0.80722	D	1	P	0.44690	0.841	B	0.40864	0.342	T	0.59434	-0.7455	10	0.25751	T	0.34	-24.0047	19.8084	0.96538	0.0:0.0:1.0:0.0	.	677	O75460	ERN1_HUMAN	V	677	ENSP00000401445:A677V	ENSP00000401445:A677V	A	-	2	0	ERN1	59484387	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	7.467000	0.80930	2.687000	0.91594	0.462000	0.41574	GCC		0.612	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		4	174	0	0	0	1	0	4	174					A	62130655	G	A	62130655	3	1	101	1	0	0	0	0	1	0	0	0	5255	1203	42	2	931	2	ERN1	17	62130655	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		62130655	19064555	47	34846											
DNAJB1	3337	broad.mit.edu	37	chr19	14627503	14627503	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctttccgtcggggtttagCcgcttgtgggagattttcat	12	9	2	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:14627503C>T	ENST00000254322.2	-	2	637	c.567G>A	c.(565-567)cgG>cgA	p.R189R	DNAJB1_ENST00000396969.4_Silent_p.R89R	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	189					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)		CGGGGTTTAGCCGCTTGTGGG	0.493																																						ENST00000254322.2																			0				NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16						c.(565-567)cgG>cgA		DnaJ (Hsp40) homolog, subfamily B, member 1							165	165	165					19																	14627503		2203	4300	6503	SO:0001819	synonymous_variant	3337				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	g.chr19:14627503C>T	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.567G>A	19.37:g.14627503C>T						DNAJB1_ENST00000396969.4_Silent_p.R89R	p.R189R	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN		GBM - Glioblastoma multiforme(1328;0.0476)	2	637	-			189					B4DX52	Silent	SNP	ENST00000254322.2	37	c.567G>A	CCDS12312.1																																																																																				0.493	DNAJB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465987.1	NM_006145		7	778	0	0	0	1	0	7	778					T	14627503	C	T	14627503	2	4	101	1	0	0	0	0	0	0	0	1	4631	726	26	2		2	DNAJB1	19	14627503	Silent	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08		14627503	44501480	48	34847											
ZNF626	199777	broad.mit.edu	37	chr19	20807121	20807121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtgtagtaaggtgtgaGgaccgcttgaaggctttgcc	14	6	0	2			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:20807121G>A	ENST00000601440.1	-	4	1708	c.1562C>T	c.(1561-1563)cCt>cTt	p.P521L	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	521					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						TAAGGTGTGAGGACCGCTTGA	0.378																																						ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(1561-1563)cCt>cTt		zinc finger protein 626							51	48	49					19																	20807121		2138	4266	6404	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807121G>A	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.1562C>T	19.37:g.20807121G>A	ENSP00000469958:p.Pro521Leu					CTC-513N18.7_ENST00000595094.1_lincRNA	p.P521L	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1708	-			521					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1562C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	3.487	-0.104716	0.06967	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-0.484	0.12071	.	.	.	.	.	T	0.16557	0.0398	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19712	-1.0297	8	0.45353	T	0.12	.	2.1362	0.03763	0.3146:0.348:0.3374:0.0	.	521	Q68DY1	ZN626_HUMAN	L	521;445	.	ENSP00000376118:P521L	P	-	2	0	ZNF626	20598961	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-4.356000	0.00247	0.171000	0.19730	0.174000	0.16983	CCT		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		6	404	0	0	0	1	0	6	404					A	20807121	G	A	20807121	3	1	101	1	0	0	0	0	1	0	0	0	18103	1000	35	2	28	2	ZNF626	19	20807121	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	6179618	20807121	38321862	49	34848											
ATP4A	495	broad.mit.edu	37	chr19	36046466	36046466	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtccttcagctgcatgCcattgatcacacaggcacgg	9	14	2	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:36046466C>T	ENST00000262623.3	-	14	2061	c.2033G>A	c.(2032-2034)gGc>gAc	p.G678D		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	678					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CAGCTGCATGCCATTGATCAC	0.652																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2032-2034)gGc>gAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						58	60	59					19																	36046466		2203	4299	6502	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046466C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2033G>A	19.37:g.36046466C>T	ENSP00000262623:p.Gly678Asp						p.G678D	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		14	2061	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		678					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.2033G>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765544	0.90020	.	.	ENSG00000105675	ENST00000262623	D	0.96491	-4.03	4.97	4.97	0.65823	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.64402	D	0.000002	D	0.99096	0.9689	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98616	1.0665	10	0.87932	D	0	.	15.7722	0.78180	0.0:1.0:0.0:0.0	.	678	P20648	ATP4A_HUMAN	D	678	ENSP00000262623:G678D	ENSP00000262623:G678D	G	-	2	0	ATP4A	40738306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.651000	0.83577	2.595000	0.87683	0.462000	0.41574	GGC		0.652	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		4	206	0	0	0	1	0	4	206					T	36046466	C	T	36046466	3	4	101	1	0	0	0	0	1	0	0	0	1146	739	26	2	1110	2	ATP4A	19	36046466	Missense_Mutation	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08	15239345	36046466	23082517	50	34849											
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	891						7	891	---	---	---	---	-	36054351	CTT	-	36054349	7	5	101	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-IB-AAUW-01A-12D-A38G-08	7883	36054349	23074634	51	34850											
NLRP2	55655	broad.mit.edu	37	chr19	55494521	55494521	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacctccgtctgttcctggaCggagacatcctccgccagga	11	15	1	1	rs377688731		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr19:55494521C>T	ENST00000543010.1	+	6	1598	c.1455C>T	c.(1453-1455)gaC>gaT	p.D485D	NLRP2_ENST00000538819.1_Silent_p.D461D|NLRP2_ENST00000263437.6_Silent_p.D482D|NLRP2_ENST00000391721.4_Silent_p.D461D|NLRP2_ENST00000339757.7_Silent_p.D463D|NLRP2_ENST00000427260.2_Silent_p.D462D|NLRP2_ENST00000448584.2_Silent_p.D485D|NLRP2_ENST00000537859.1_Silent_p.D463D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	485	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)		TGTTCCTGGACGGAGACATCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16785	0.0		0.0	False		,,,				2504	0.001					ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1453-1455)gaC>gaT		NLR family, pyrin domain containing 2		C	,,,	0,4406		0,0,2203	36	36	36		1455,1389,1386,1455	0.8	0	19		36	2,8592		0,2,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	,,,	485/1063,463/1041,462/1040,485/1063	55494521	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494521C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1455C>T	19.37:g.55494521C>T						NLRP2_ENST00000339757.7_Silent_p.D463D|NLRP2_ENST00000538819.1_Silent_p.D461D|NLRP2_ENST00000427260.2_Silent_p.D462D|NLRP2_ENST00000263437.6_Silent_p.D482D|NLRP2_ENST00000537859.1_Silent_p.D463D|NLRP2_ENST00000391721.4_Silent_p.D461D|NLRP2_ENST00000448584.2_Silent_p.D485D	p.D485D	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1598	+			485			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1455C>T	CCDS12913.1																																																																																				0.617	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		5	274	0	0	0	1	0	5	274					T	55494521	C	T	55494521	2	4	101	1	0	0	0	0	0	0	0	1	10519	535	19	1		1	NLRP2	19	55494521	Silent	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08	19440172	55494521	3634462	52	34851											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000464624.2_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		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)	p.R201C(228)|p.R844C(9)|p.R201S(5)		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)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80	78	79					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	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.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	TSP Lung(22;0.16)				GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		5	305	0	0	0	1	0	5	305					T	57484420	C	T	57484420	3	4	101	1	0	0	0	0	1	0	0	0	6539	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-IB-AAUW-01A-12D-A38G-08		57484420	5541100	53	34852											
SEPT3	55964	broad.mit.edu	37	chr22	42388741	42388741	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggcaagagggtcctcggccGaaaaactccatgggggatca	14	10	1	1			TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr22:42388741G>A	ENST00000396426.3	+	8	1094	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	SEPT3_ENST00000406029.1_Missense_Mutation_p.R216Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000291236.11_Missense_Mutation_p.R216Q|SEPT3_ENST00000396425.3_Missense_Mutation_p.R280Q	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	280	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GTCCTCGGCCGAAAAACTCCA	0.488																																						ENST00000396425.3																			0				breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(838-840)cGa>cAa		septin 3							124	102	110					22																	42388741		2203	4300	6503	SO:0001583	missense	55964				cell cycle|cytokinesis	cell junction|septin complex	GTP binding	g.chr22:42388741G>A	AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.839G>A	22.37:g.42388741G>A	ENSP00000379704:p.Arg280Gln					SEPT3_ENST00000291236.11_Missense_Mutation_p.R216Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.R216Q|SEPT3_ENST00000396426.3_Missense_Mutation_p.R280Q	p.R280Q	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN			8	970	+			280					B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	ENST00000396426.3	37	c.839G>A	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520960	0.85495	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.964;0.995;0.998;0.998	D;P;D;D;D	0.79108	0.988;0.595;0.918;0.986;0.992	D	0.90781	0.4679	10	0.87932	D	0	.	19.9633	0.97258	0.0:0.0:1.0:0.0	.	216;267;216;280;280	B7Z686;A8K1X2;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;.;SEPT3_HUMAN	Q	280;216;280;216	ENSP00000379704:R280Q;ENSP00000383956:R216Q;ENSP00000379703:R280Q;ENSP00000291236:R216Q	ENSP00000291236:R216Q	R	+	2	0	SEPT3	40718687	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.766000	0.98957	2.805000	0.96524	0.460000	0.39030	CGA		0.488	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734		3	62	0	0	0	1	0	3	62					A	42388741	G	A	42388741	3	1	101	1	0	0	0	0	1	0	0	0	14115	1058	37	1	869	1	SEPT3	22	42388741	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		42388741	8915825	54	34853											
CELSR1	9620	broad.mit.edu	37	chr22	46807563	46807563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgatgtcctttccaaagcGcacagccatggttgtgtcac	9	14	1	0	rs200439861		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chr22:46807563G>A	ENST00000262738.3	-	6	4704	c.4705C>T	c.(4705-4707)Cgc>Tgc	p.R1569C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1569	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTTCCAAAGCGCACAGCCATG	0.617																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4705-4707)Cgc>Tgc		cadherin, EGF LAG seven-pass G-type receptor 1		G	CYS/ARG	0,4406		0,0,2203	111	94	100		4705	4.4	1	22		100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CELSR1	NM_014246.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1569/3015	46807563	1,13005	2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46807563G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4705C>T	22.37:g.46807563G>A	ENSP00000262738:p.Arg1569Cys						p.R1569C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	6	4704	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1569			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4705C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996531	0.74818	0.0	1.16E-4	ENSG00000075275	ENST00000262738	T	0.78816	-1.21	4.43	4.43	0.53597	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.079121	0.51477	U	0.000082	D	0.85301	0.5665	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.87206	0.2244	10	0.72032	D	0.01	.	17.0436	0.86496	0.0:0.0:1.0:0.0	.	1569	Q9NYQ6	CELR1_HUMAN	C	1569	ENSP00000262738:R1569C	ENSP00000262738:R1569C	R	-	1	0	CELSR1	45186227	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.020000	0.64066	2.178000	0.69098	0.655000	0.94253	CGC		0.617	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		5	309	0	0	0	1	0	5	309					A	46807563	G	A	46807563	3	1	101	1	0	0	0	0	1	0	0	0	3230	1087	38	1	4459	1	CELSR1	22	46807563	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08	4418822	46807563	4497003	55	34854											
F8	2157	broad.mit.edu	37	chrX	154130395	154130395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaataaggcattccacccGccaaattccagctttggatg	8	13	0	0	rs137852453		TCGA-IB-AAUW-01A-12D-A38G-08	TCGA-IB-AAUW-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29cf030b-07b7-46ad-afb0-d7bde31ef55c	299dc91a-7da5-4537-adb8-646b7b5b75ca	g.chrX:154130395G>A	ENST00000360256.4	-	19	6246	c.6046C>T	c.(6046-6048)Cgg>Tgg	p.R2016W		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2016	F5/8 type A 3.|Plastocyanin-like 6.		R -> P (in HEMA; severe familial). {ECO:0000269|PubMed:11341489}.|R -> W (in HEMA; severe/moderate/mild). {ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:11341489, ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:9886318}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CATTCCACCCGCCAAATTCCA	0.418																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM082650|CM910144	F8	M	rs137852453	c.(6046-6048)Cgg>Tgg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						121	104	110					X																	154130395		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154130395G>A	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.6046C>T	X.37:g.154130395G>A	ENSP00000353393:p.Arg2016Trp						p.R2016W	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			19	6246	-	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)		2016		R -> P (in HEMA; severe familial).|R -> W (in HEMA; severe/moderate/mild).	F5/8 type A 3.|Plastocyanin-like 6.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6046C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	19.00	3.742748	0.69418	.	.	ENSG00000185010	ENST00000360256	D	0.99656	-6.31	5.25	3.32	0.38043	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.230205	0.37955	N	0.001866	D	0.99263	0.9743	L	0.50333	1.59	0.42866	D	0.994122	D	0.89917	1.0	D	0.91635	0.999	D	0.99075	1.0835	10	0.62326	D	0.03	-4.4738	10.5809	0.45255	0.0:0.0:0.6532:0.3468	rs28937298	2016	P00451	FA8_HUMAN	W	2016	ENSP00000353393:R2016W	ENSP00000353393:R2016W	R	-	1	2	F8	153783589	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	1.834000	0.39171	1.093000	0.41377	0.538000	0.68166	CGG		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			7	425	0	0	0	1	0	7	425					A	154130395	G	A	154130395	3	1	101	1	0	0	0	0	1	0	0	0	5368	1086	38	1	1069	1	F8	23	154130395	Missense_Mutation	SNP	G	TCGA-IB-AAUW-01A-12D-A38G-08		154130395	1140165	56	34855											
GNB1	2782	broad.mit.edu	37	chr1	1722012	1722012	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaacgtggtcgtctgctggCcggtctcgatgtcccacagg	13	12	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:1722012C>T	ENST00000378609.4	-	9	852	c.521G>A	c.(520-522)gGc>gAc	p.G174D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	174					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CGTCTGCTGGCCGGTCTCGAT	0.542																																						ENST00000378609.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(520-522)gGc>gAc		guanine nucleotide binding protein (G protein), beta polypeptide 1							113	83	93					1																	1722012		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1722012C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.521G>A	1.37:g.1722012C>T	ENSP00000367872:p.Gly174Asp						p.G174D	NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	852	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	174					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.521G>A	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.753994|4.753994	0.89843|0.89843	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000424622|ENST00000378609;ENST00000455156;ENST00000378606	.|T	.|0.01613	.|4.73	5.11|5.11	5.11|5.11	0.69529|0.69529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.11024|0.11024	0.0269|0.0269	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.66351	.|0.943	T|T	0.00353|0.00353	-1.1795|-1.1795	5|10	.|0.87932	.|D	.|0	-24.5913|-24.5913	17.5387|17.5387	0.87841|0.87841	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|174	.|P62873	.|GBB1_HUMAN	T|D	32|174;74;174	.|ENSP00000367872:G174D	.|ENSP00000367869:G174D	A|G	-|-	1|2	0|0	GNB1|GNB1	1711872|1711872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.586000|7.586000	0.82596|0.82596	2.374000|2.374000	0.81015|0.81015	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.542	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		9	188	0	0	0	1	0	9	188					T	1722012	C	T	1722012	3	4	102	1	0	0	0	0	1	0	0	0	6544	739	26	2	513	2	GNB1	1	1722012	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		1722012	247528609	1	34856											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		14	473						14	473	---	---	---	---	-	6680071	GAA	-	6680069	7	5	102	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-LB-A7SX-01A-11D-A33T-08	4958057	6680069	242570552	2	34857											
CROCC	9696	broad.mit.edu	37	chr1	17271988	17271988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagagcagctggaagggaagCgctcagtcctggccaaggag	16	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:17271988C>T	ENST00000375541.5	+	15	2092	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAAGGGAAGCGCTCAGTCCT	0.642																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2023-2025)Cgc>Tgc		ciliary rootlet coiled-coil, rootletin																																				SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17271988C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2023C>T	1.37:g.17271988C>T	ENSP00000364691:p.Arg675Cys					CROCC_ENST00000467938.1_3'UTR	p.R675C	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2092	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	675						Missense_Mutation	SNP	ENST00000375541.5	37	c.2023C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885565	0.51908	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10382	2.88	5.01	4.02	0.46733	.	.	.	.	.	T	0.25717	0.0626	L	0.57536	1.79	0.48511	D	0.999665	D;D	0.89917	1.0;1.0	D;P	0.64410	0.925;0.878	T	0.00206	-1.1920	9	0.46703	T	0.11	.	13.6849	0.62511	0.1552:0.8448:0.0:0.0	.	538;675	A1L0S8;Q5TZA2	.;CROCC_HUMAN	C	675;556	ENSP00000364691:R675C	ENSP00000364691:R675C	R	+	1	0	CROCC	17144575	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.659000	0.37387	2.712000	0.92718	0.561000	0.74099	CGC		0.642	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		11	162	0	0	0	1	0	11	162					T	17271988	C	T	17271988	3	4	102	1	0	0	0	0	1	0	0	0	3902	768	27	1	2081	1	CROCC	1	17271988	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10591919	17271988	231978633	3	34858											
AKR7L	246181	broad.mit.edu	37	chr1	19595169	19595169	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttctccaccagggcaatgCcctcgaagtggtgctccttc	9	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:19595169C>T	ENST00000429712.1	-	0	850				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CAGGGCAATGCCCTCGAAGTG	0.627																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							85	76	79					1																	19595169		2203	4300	6503			246181							g.chr1:19595169C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595169C>T						AKR7L_ENST00000429712.1_RNA								0	533	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	11.83	1.757156	0.31137	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.04156	3.69	3.73	1.72	0.24424	NADP-dependent oxidoreductase domain (3);	0.300379	0.35615	N	0.003087	T	0.16557	0.0398	.	.	.	0.26543	N	0.974053	P	0.52577	0.954	D	0.68943	0.961	T	0.01460	-1.1349	9	0.49607	T	0.09	.	13.0196	0.58779	0.0:0.4743:0.5256:0.0	.	244	Q8NHP1	ARK74_HUMAN	D	66;134;244;209	ENSP00000406430:G66D	ENSP00000373538:G209D	G	-	2	0	AKR7L	19467756	0.960000	0.32886	0.858000	0.33744	0.002000	0.02628	0.857000	0.27831	0.325000	0.23359	-0.565000	0.04167	GGC		0.627	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		5	433	0	0	0	1	0	5	433					T	19595169	C	T	19595169	1	4	102	0	1	0	0	0	0	0	0	0	477	739	26	2		2	AKR7L	1	19595169	RNA	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2323181	19595169	229655452	4	34859											
NBPF3	84224	broad.mit.edu	37	chr1	21799978	21799978	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagtccaaccagccttaCgggaacaccagaatcacatt	8	12	1	2	rs143299774		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:21799978C>T	ENST00000318249.5	+	7	1190	c.840C>T	c.(838-840)taC>taT	p.Y280Y	NBPF3_ENST00000318220.6_Silent_p.Y224Y|NBPF3_ENST00000342104.5_Silent_p.Y280Y|NBPF3_ENST00000454000.2_Silent_p.Y210Y	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	280	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				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)		ACCAGCCTTACGGGAACACCA	0.483																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(670-672)taC>taT		neuroblastoma breakpoint family, member 3		C		1,4405		0,1,2202	239	219	226		840	-0.1	0	1	dbSNP_134	226	0,8600		0,0,4300	no	coding-synonymous	NBPF3	NM_032264.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		280/634	21799978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21799978C>T	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.840C>T	1.37:g.21799978C>T						NBPF3_ENST00000342104.5_Silent_p.Y280Y|NBPF3_ENST00000318249.5_Silent_p.Y280Y|NBPF3_ENST00000454000.2_Silent_p.Y210Y	p.Y224Y			Q9H094	NBPF3_HUMAN		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)	10	1720	+		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)	280			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.672C>T	CCDS216.1																																																																																				0.483	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		7	1096	0	0	0	1	0	7	1096					T	21799978	C	T	21799978	2	4	102	1	0	0	0	0	0	0	0	1	10239	547	19	1		1	NBPF3	1	21799978	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2204809	21799978	227450643	5	34860											
CDC42	998	broad.mit.edu	37	chr1	22416480	22416480	+	Intron	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaggctatcctagctgccctCgagcctccggaaactcaacc	9	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:22416480C>T	ENST00000344548.3	+	7	737				CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron|CDC42_ENST00000315554.8_Silent_p.L177L	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TAGCTGCCCTCGAGCCTCCGG	0.473																																						ENST00000315554.8																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(529-531)ctC>ctT		cell division cycle 42							116	97	104					1																	22416480		2203	4300	6503	SO:0001627	intron_variant	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22416480C>T	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.487-1441C>T	1.37:g.22416480C>T						CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000344548.3_Intron|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000421089.2_Intron	p.L177L	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	6	635	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	177					P21181|P25763|Q7L8R5|Q9UDI2	Silent	SNP	ENST00000344548.3	37	c.531C>T	CCDS221.1																																																																																				0.473	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		38	232	0	0	0	1	0	38	232					T	22416480	C	T	22416480	1	4	102	0	1	0	0	0	0	0	0	0	3080	871	31	1		1	CDC42	1	22416480	Intron	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	616502	22416480	226834141	6	34861											
RHCE	6006	broad.mit.edu	37	chr1	25717263	25717263	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gctgatcttcctttgggggtGagccaaggatgaccctgaga	14	9	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:25717263G>A	ENST00000294413.7	-	5	836	c.778C>T	c.(778-780)Cac>Tac	p.H260Y	RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000374352.2_Missense_Mutation_p.H244Y|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y|RHCE_ENST00000349320.3_Missense_Mutation_p.H244Y|RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000340849.4_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	260						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		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;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGGGGTGAGCCAAGGAT	0.537																																						ENST00000349320.3																			0				endometrium(8)|large_intestine(6)|lung(3)	17						c.(730-732)Cac>Tac		Rh blood group, CcEe antigens							157	134	142					1																	25717263		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25717263G>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"CD molecules", "Blood group antigens"	10008	protein-coding gene	gene with protein product		111700	"Rhesus blood group, CcEe antigens"	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.778C>T	1.37:g.25717263G>A	ENSP00000294413:p.His260Tyr					RHCE_ENST00000340849.4_Intron|RHCE_ENST00000425135.1_Missense_Mutation_p.H260Y|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.H260Y|RHCE_ENST00000243186.6_Missense_Mutation_p.H260Y|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.H260Y|RHCE_ENST00000294413.7_Missense_Mutation_p.H260Y|RHCE_ENST00000374352.2_Missense_Mutation_p.H244Y	p.H244Y			P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	7	1118	-		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)	260					A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.730C>T	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	g	10.01	1.233543	0.22626	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.23	3.3	0.37823	Ammonium transporter AmtB-like (3);	0.534254	0.19648	N	0.109285	T	0.50222	0.1603	M	0.83953	2.67	0.19300	N	0.999972	D;D;D	0.69078	0.988;0.997;0.964	D;D;D	0.77004	0.916;0.943;0.989	T	0.37709	-0.9694	10	0.87932	D	0	-2.9623	9.4703	0.38837	0.0:0.0:0.7883:0.2117	.	244;260;260	Q5VSJ9;Q5VSJ8;P18577	.;.;RHCE_HUMAN	Y	260;202;244;260;260;244;260;260;260	ENSP00000415417:H260Y;ENSP00000363472:H244Y;ENSP00000243186:H260Y;ENSP00000392809:H260Y;ENSP00000311185:H244Y;ENSP00000294413:H260Y;ENSP00000334570:H260Y	ENSP00000243186:H260Y	H	-	1	0	RHCE	25589850	0.912000	0.30974	0.077000	0.20336	0.051000	0.14879	2.349000	0.44054	1.106000	0.41623	0.591000	0.81541	CAC		0.537	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		58	563	0	0	0	1	0	58	563					A	25717263	G	A	25717263	3	1	102	1	0	0	0	0	1	0	0	0	13375	1290	45	2	499	2	RHCE	1	25717263	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3300783	25717263	223533358	7	34862											
RPA2	6118	broad.mit.edu	37	chr1	28240600	28240600	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttttcggcttgagaaggtgCgggcgatccaaagccccccg	13	13	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:28240600C>T	ENST00000373912.3	-	2	390	c.91G>A	c.(91-93)Gca>Aca	p.A31T	RPA2_ENST00000373909.3_Missense_Mutation_p.A39T|RPA2_ENST00000313433.7_Missense_Mutation_p.A119T	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	31					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of DNA damage checkpoint (GO:2000001)|regulation of double-strand break repair via homologous recombination (GO:0010569)|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 A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|enzyme binding (GO:0019899)|protein phosphatase binding (GO:0019903)|single-stranded DNA binding (GO:0003697)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		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;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGAAGGTGCGGGCGATCCA	0.493								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000373912.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11						c.(91-93)Gca>Aca	Direct reversal of damage;Nucleotide excision repair (NER)	replication protein A2, 32kDa							60	69	66					1																	28240600		2203	4300	6503	SO:0001583	missense	6118				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	g.chr1:28240600C>T	BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748			10290	protein-coding gene	gene with protein product		179836	"replication protein A2 (32kD)"			8454588	Standard	XM_005245965		Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.91G>A	1.37:g.28240600C>T	ENSP00000363021:p.Ala31Thr					RPA2_ENST00000373909.3_Missense_Mutation_p.A39T|RPA2_ENST00000313433.7_Missense_Mutation_p.A119T	p.A31T	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)	2	390	-		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)	31					Q52II0|Q5TEI9|Q5TEJ5	Missense_Mutation	SNP	ENST00000373912.3	37	c.91G>A	CCDS314.1	.	.	.	.	.	.	.	.	.	.	C	5.270	0.235293	0.09969	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.23147	2.25;2.25;2.22;1.92	4.59	0.58	0.17402	.	0.230912	0.46442	N	0.000296	T	0.09730	0.0239	N	0.12182	0.205	0.09310	N	1	B;B	0.21309	0.002;0.054	B;B	0.15052	0.002;0.012	T	0.21655	-1.0239	10	0.19147	T	0.46	-14.3524	3.0498	0.06166	0.4332:0.1943:0.0:0.3725	.	31;39	P15927;P15927-2	RFA2_HUMAN;.	T	31;39;119;35	ENSP00000363021:A31T;ENSP00000363017:A39T;ENSP00000363015:A119T;ENSP00000387649:A35T	ENSP00000363015:A119T	A	-	1	0	RPA2	28113187	0.041000	0.20044	0.025000	0.17156	0.097000	0.18754	0.187000	0.16998	0.221000	0.20879	-0.378000	0.06908	GCA		0.493	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011179.1	NM_002946		5	318	0	0	0	1	0	5	318					T	28240600	C	T	28240600	3	4	102	1	0	0	0	0	1	0	0	0	13587	768	27	1	753	1	RPA2	1	28240600	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2523337	28240600	221010021	8	34863											
SFRS4	6429	broad.mit.edu	37	chr1	29476660	29476660	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gactgcttttgctgctgccaCttcggcttctgctcttacgg	10	13	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:29476660C>T	ENST00000373795.4	-	5	857	c.623G>A	c.(622-624)aGt>aAt	p.S208N	RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_Intron	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	208	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						GCTGCTGCCACTTCGGCTTCT	0.478																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(622-624)aGt>aAt		serine/arginine-rich splicing factor 4							213	210	211					1																	29476660		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29476660C>T	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10786	protein-coding gene	gene with protein product	"SR splicing factor 4"	601940	"splicing factor, arginine/serine-rich 4"	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.623G>A	1.37:g.29476660C>T	ENSP00000362900:p.Ser208Asn					SRSF4_ENST00000466448.1_Intron|SRSF4_ENST00000546138.1_Intron	p.S208N	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			5	857	-			208			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.623G>A	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514077	0.64522	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.46819	0.86	5.36	5.36	0.76844	.	0.132141	0.85682	N	0.000000	T	0.61060	0.2317	M	0.67397	2.05	0.80722	D	1	D	0.64830	0.994	P	0.55055	0.767	T	0.61705	-0.7008	10	0.48119	T	0.1	.	16.6233	0.84935	0.0:1.0:0.0:0.0	.	208	Q08170	SRSF4_HUMAN	N	208	ENSP00000362900:S208N	ENSP00000362900:S208N	S	-	2	0	SRSF4	29349247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.735000	0.74806	2.668000	0.90789	0.650000	0.86243	AGT		0.478	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		263	584	0	0	0	1	0	263	584					T	29476660	C	T	29476660	3	4	102	1	0	0	0	0	1	0	0	0	14229	565	20	2	869	2	SFRS4	1	29476660	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1236060	29476660	219773961	9	34864											
IQCC	55721	broad.mit.edu	37	chr1	32672714	32672714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaacaggccatcaatagccGtaaggaggtaacactaacct	9	11	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:32672714G>A	ENST00000291358.6	+	4	572	c.551G>A	c.(550-552)cGt>cAt	p.R184H	IQCC_ENST00000537469.1_Missense_Mutation_p.R264H|DCDC2B_ENST00000409358.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	184										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATCAATAGCCGTAAGGAGGTA	0.547																																						ENST00000537469.1																			0				endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15						c.(790-792)cGt>cAt		IQ motif containing C							123	129	127					1																	32672714		2203	4300	6503	SO:0001583	missense	55721							g.chr1:32672714G>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.551G>A	1.37:g.32672714G>A	ENSP00000291358:p.Arg184His					IQCC_ENST00000291358.6_Missense_Mutation_p.R184H	p.R264H	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN			4	838	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	184					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	ENST00000291358.6	37	c.791G>A	CCDS355.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528552	0.85706	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.12255	2.7;2.7	4.96	4.05	0.47172	.	0.000000	0.53938	D	0.000046	T	0.21103	0.0508	M	0.70595	2.14	0.53688	D	0.999975	D;P	0.54772	0.968;0.877	P;B	0.45276	0.475;0.343	T	0.05178	-1.0901	10	0.87932	D	0	-9.9452	13.3085	0.60365	0.0783:0.0:0.9217:0.0	.	264;184	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	H	264;184	ENSP00000442291:R264H;ENSP00000291358:R184H	ENSP00000291358:R184H	R	+	2	0	IQCC	32445301	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	8.453000	0.90349	1.238000	0.43771	-0.258000	0.10820	CGT		0.547	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3	NM_018134		6	967	0	0	0	1	0	6	967					A	32672714	G	A	32672714	3	1	102	1	0	0	0	0	1	0	0	0	7834	1145	40	1	805	1	IQCC	1	32672714	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3196054	32672714	216577907	10	34865											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	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.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			19	753						19	753	---	---	---	---	-	44071948	GCG	-	44071946	7	5	102	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-LB-A7SX-01A-11D-A33T-08	11399232	44071946	205178675	11	34866											
TOE1	114034	broad.mit.edu	37	chr1	45808833	45808833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgacactgatgaggctgCggcagaggacaagcggcgac	15	10	0	4	rs375841165		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:45808833C>T	ENST00000372090.5	+	8	1575	c.992C>T	c.(991-993)gCg>gTg	p.A331V	MUTYH_ENST00000372098.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.A251V|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	331						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GATGAGGCTGCGGCAGAGGAC	0.562																																						ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(991-993)gCg>gTg		target of EGR1, member 1 (nuclear)		C	VAL/ALA	0,4406		0,0,2203	111	113	112		992	-0.3	0.1	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOE1	NM_025077.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	331/511	45808833	1,13005	2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808833C>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.992C>T	1.37:g.45808833C>T	ENSP00000361162:p.Ala331Val					TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.A251V	p.A331V	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			8	1575	+	Acute lymphoblastic leukemia(166;0.155)		331					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.992C>T	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	3.297	-0.143636	0.06627	0.0	1.16E-4	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.26957	1.7;1.7	5.99	-0.283	0.12874	.	1.039030	0.07509	N	0.908541	T	0.08223	0.0205	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.33650	-0.9860	10	0.02654	T	1	-1.1095	7.0299	0.24960	0.1274:0.4575:0.0:0.4151	.	251;331	B4DEM6;Q96GM8	.;TOE1_HUMAN	V	331;251	ENSP00000361162:A331V;ENSP00000438900:A251V	ENSP00000361162:A331V	A	+	2	0	TOE1	45581420	0.000000	0.05858	0.094000	0.20943	0.302000	0.27658	-0.128000	0.10531	-0.070000	0.12908	-0.302000	0.09304	GCG		0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		6	959	0	0	0	1	0	6	959					T	45808833	C	T	45808833	3	4	102	1	0	0	0	0	1	0	0	0	16401	768	27	1	1022	1	TOE1	1	45808833	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1736887	45808833	203441788	12	34867											
TMEM48	55706	broad.mit.edu	37	chr1	54269611	54269611	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagcaatacctggttggctGaggctgaaaacttcttgtct	10	8	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:54269611G>A	ENST00000371429.3	-	10	1654	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000234725.8_Silent_p.L237L|NDC1_ENST00000537333.1_Silent_p.L17L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	352					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										CTGGTTGGCTGAGGCTGAAAA	0.408																																						ENST00000371429.3																			0											c.(1054-1056)ctC>ctT		NDC1 transmembrane nucleoporin							181	184	183					1																	54269611		2203	4300	6503	SO:0001819	synonymous_variant	55706							g.chr1:54269611G>A	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"nuclear division cycle 1 homolog (S. cerevisiae)"	610115	"transmembrane protein 48"	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1056C>T	1.37:g.54269611G>A						NDC1_ENST00000537333.1_Silent_p.L17L|NDC1_ENST00000540001.1_Silent_p.L352L|NDC1_ENST00000234725.8_Silent_p.L237L	p.L352L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3					10	1654	-								B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Silent	SNP	ENST00000371429.3	37	c.1056C>T	CCDS583.1																																																																																				0.408	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		296	758	0	0	0	1	0	296	758					A	54269611	G	A	54269611	2	1	102	1	0	0	0	0	0	0	0	1	16224	1277	45	2		2	TMEM48	1	54269611	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8460778	54269611	194981010	13	34868											
FAM151A	338094	broad.mit.edu	37	chr1	55089019	55089019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagacacacaggtaatgccgGcaaacacccacttgacctga	8	14	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:55089019G>A	ENST00000302250.2	-	1	210	c.50C>T	c.(49-51)gCc>gTc	p.A17V	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Missense_Mutation_p.A17V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	17						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						GGTAATGCCGGCAAACACCCA	0.602																																						ENST00000302250.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(49-51)gCc>gTc		family with sequence similarity 151, member A							236	184	201					1																	55089019		2203	4300	6503	SO:0001583	missense	338094					integral to membrane		g.chr1:55089019G>A	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.50C>T	1.37:g.55089019G>A	ENSP00000306888:p.Ala17Val					FAM151A_ENST00000371304.2_Missense_Mutation_p.A17V|ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA	p.A17V	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN			1	210	-			17					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	ENST00000302250.2	37	c.50C>T	CCDS594.1	.	.	.	.	.	.	.	.	.	.	G	7.745	0.702152	0.15172	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.11063	2.81;2.9	3.53	-4.68	0.03309	.	1.079840	0.07266	N	0.868223	T	0.06735	0.0172	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41556	-0.9502	10	0.27785	T	0.31	-1.1056	10.8026	0.46497	0.7957:0.0:0.2043:0.0	.	17	Q8WW52	F151A_HUMAN	V	17	ENSP00000306888:A17V;ENSP00000360353:A17V	ENSP00000294370:A17V	A	-	2	0	FAM151A	54861607	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.189000	0.09629	-1.100000	0.03030	-0.136000	0.14681	GCC		0.602	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		6	806	0	0	0	1	0	6	806					A	55089019	G	A	55089019	3	1	102	1	0	0	0	0	1	0	0	0	5479	1203	42	2	1739	2	FAM151A	1	55089019	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	819408	55089019	194161602	14	34869											
C8B	732	broad.mit.edu	37	chr1	57411609	57411609	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagagatctctgtattccccGtagctgtactccaggggcag	11	11	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:57411609G>A	ENST00000371237.4	-	7	1056	c.990C>T	c.(988-990)taC>taT	p.Y330Y	C8B_ENST00000535057.1_Silent_p.Y268Y|C8B_ENST00000543257.1_Silent_p.Y278Y	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	330	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.Y330Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTATTCCCCGTAGCTGTACT	0.493																																						ENST00000543257.1																			1	Substitution - coding silent(1)	p.Y330Y(1)	endometrium(1)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						c.(832-834)taC>taT		complement component 8, beta polypeptide							87	83	84					1																	57411609		2203	4300	6503	SO:0001819	synonymous_variant	732				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		g.chr1:57411609G>A	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.990C>T	1.37:g.57411609G>A						C8B_ENST00000371237.4_Silent_p.Y330Y|C8B_ENST00000535057.1_Silent_p.Y268Y	p.Y278Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN			8	1400	-			330			MACPF.		A1L4K7	Silent	SNP	ENST00000371237.4	37	c.834C>T	CCDS30730.1																																																																																				0.493	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2			5	434	0	0	0	1	0	5	434					A	57411609	G	A	57411609	2	1	102	1	0	0	0	0	0	0	0	1	2424	1140	40	1		1	C8B	1	57411609	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2322590	57411609	191839012	15	34870											
JAK1	3716	broad.mit.edu	37	chr1	65310517	65310517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcactgtcgatgccctcaCgggccaggaggaggttttta	12	11	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:65310517C>T	ENST00000342505.4	-	16	2419	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	724	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GATGCCCTCACGGGCCAGGAG	0.542			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				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						c.(2170-2172)cGt>cAt		Janus kinase 1							97	111	107					1																	65310517		2091	4208	6299	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65310517C>T	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.2171G>A	1.37:g.65310517C>T	ENSP00000343204:p.Arg724His					JAK1_ENST00000465376.1_5'UTR	p.R724H	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	16	2419	-			724			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.2171G>A	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762736	0.89932	.	.	ENSG00000162434	ENST00000342505	D	0.82893	-1.66	5.0	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87509	0.6195	M	0.71036	2.16	0.51767	D	0.999936	D	0.89917	1.0	D	0.91635	0.999	D	0.89235	0.3580	9	0.72032	D	0.01	-5.0492	13.6915	0.62549	0.0:0.9256:0.0:0.0744	.	724	P23458	JAK1_HUMAN	H	724	ENSP00000343204:R724H	ENSP00000343204:R724H	R	-	2	0	JAK1	65083105	1.000000	0.71417	0.864000	0.33941	0.849000	0.48306	7.239000	0.78182	1.347000	0.45714	0.563000	0.77884	CGT		0.542	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		15	313	0	0	0	1	0	15	313					T	65310517	C	T	65310517	3	4	102	1	0	0	0	0	1	0	0	0	7967	536	19	1	1333	1	JAK1	1	65310517	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	7898908	65310517	183940104	16	34871											
NEGR1	257194	broad.mit.edu	37	chr1	72400859	72400859	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtcacatctacattctgtatCtggaggctgtagtccctttt	8	10	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:72400859C>G	ENST00000357731.5	-	2	551	c.312G>C	c.(310-312)caG>caC	p.Q104H	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H|NEGR1_ENST00000306821.3_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	104	Ig-like C2-type 1.				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)		CATTCTGTATCTGGAGGCTGT	0.443																																						ENST00000357731.4																			0				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(310-312)caG>caC		neuronal growth regulator 1							121	111	115					1																	72400859		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72400859C>G	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.312G>C	1.37:g.72400859C>G	ENSP00000350364:p.Gln104His					NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.Q102H|NEGR1_ENST00000306821.3_5'UTR	p.Q104H	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN		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)	2	551	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	104			Ig-like C2-type 1.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.312G>C	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725868	0.69074	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.27557	1.66;1.66	5.71	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.055508	0.85682	D	0.000000	T	0.10723	0.0262	L	0.35644	1.08	0.58432	D	0.999997	B;B	0.21452	0.017;0.056	B;B	0.23018	0.026;0.043	T	0.06552	-1.0820	10	0.09590	T	0.72	-5.4874	14.4709	0.67517	0.0:0.9295:0.0:0.0705	.	102;104	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	H	104;102	ENSP00000350364:Q104H;ENSP00000413294:Q102H	ENSP00000350364:Q104H	Q	-	3	2	NEGR1	72173447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.217000	0.51184	1.423000	0.47198	0.655000	0.94253	CAG		0.443	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		11	333	0	0	0	1	0	11	333					G	72400859	C	G	72400859	3	3	102	1	0	0	0	0	1	0	0	0	10359	912	32	5	776	5	NEGR1	1	72400859	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	7090342	72400859	176849762	17	34872											
COL24A1	255631	broad.mit.edu	37	chr1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttttcccaatttttccaggaGgacctctgcttccaacttct	5	13	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3403-3405)cCt>cAt		collagen, type XXIV, alpha 1							148	138	141					1																	86313406		1865	4091	5956	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86313406G>T	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3404C>A	1.37:g.86313406G>T	ENSP00000359603:p.Pro1135His					COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	39	3770	-			1135			Collagen-like 11.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3404C>A	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	4.161	0.028325	0.08054	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.98701	-5.08;-5.08	5.53	4.62	0.57501	.	0.000000	0.38058	N	0.001839	D	0.96898	0.8987	M	0.80982	2.52	0.22552	N	0.998991	B;B	0.25904	0.137;0.042	B;B	0.38683	0.279;0.007	D	0.95224	0.8336	10	0.48119	T	0.1	.	7.2398	0.26090	0.081:0.0:0.6546:0.2643	.	1135;1135	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	H	1135	ENSP00000359603:P1135H;ENSP00000392531:P1135H	ENSP00000359603:P1135H	P	-	2	0	COL24A1	86085994	0.874000	0.30092	0.978000	0.43139	0.377000	0.30045	3.233000	0.51311	1.343000	0.45638	-0.224000	0.12420	CCT		0.428	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		185	377	1	0	7.88524e-70	1	8.7329e-70	185	377					T	86313406	G	T	86313406	3	4	102	1	0	0	0	0	1	0	0	0	3692	1000	35	3	1828	3	COL24A1	1	86313406	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13912547	86313406	162937215	18	34873											
CCDC18	343099	broad.mit.edu	37	chr1	93730295	93730295	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatgcaaagtggaagaTttctgctgactctcaaaagt	9	8	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:93730295T>C	ENST00000343253.7	+	27	4221	c.3719T>C	c.(3718-3720)aTt>aCt	p.I1240T	RP4-717I23.3_ENST00000457025.1_RNA|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.I1359T|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|CCDC18_ENST00000338949.4_3'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.I1241T|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000451302.2_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000602488.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000442860.1_RNA			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1240										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)		AAGTGGAAGATTTCTGCTGAC	0.358																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(3718-3720)aTt>aCt		coiled-coil domain containing 18							90	83	85					1																	93730295		1845	4094	5939	SO:0001583	missense	343099							g.chr1:93730295T>C			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.3719T>C	1.37:g.93730295T>C	ENSP00000343377:p.Ile1240Thr					CCDC18_ENST00000401026.3_Missense_Mutation_p.I1241T|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|CCDC18_ENST00000338949.4_3'UTR|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|CCDC18_ENST00000334652.5_3'UTR|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000451302.2_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000602488.1_RNA|CCDC18_ENST00000557479.1_Missense_Mutation_p.I1359T|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA	p.I1240T			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	27	4221	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	1240					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.3719T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.95|13.95	2.388693|2.388693	0.42308|0.42308	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.529395	.|0.19585	.|N	.|0.110755	T|T	0.17874|0.17874	0.0429|0.0429	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.29301	.|0.241;0.144	.|B;B	.|0.30782	.|0.058;0.12	T|T	0.12477|0.12477	-1.0546|-1.0546	5|9	.|0.22109	.|T	.|0.4	.|.	12.4669|12.4669	0.55764|0.55764	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|159;1359	.|Q5T9S4;G3V388	.|.;.	L|T	1294|1240;1241;1359	.|.	.|ENSP00000343377:I1240T	F|I	+|+	1|2	0|0	CCDC18|CCDC18	93502883|93502883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.540000|4.540000	0.60664|0.60664	2.208000|2.208000	0.71279|0.71279	0.482000|0.482000	0.46254|0.46254	TTT|ATT		0.358	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		5	581	0	0	0	1	0	5	581					C	93730295	T	C	93730295	3	2	102	1	0	0	0	0	1	0	0	0	2801	1493	52	4	4182	4	CCDC18	1	93730295	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	7416889	93730295	155520326	19	34874											
DBT	1629	broad.mit.edu	37	chr1	100701025	100701025	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttacttctctaatcccttctCcaatgtctgagagcttgaac	5	12	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:100701025C>G	ENST00000370132.4	-	3	231	c.218G>C	c.(217-219)gGa>gCa	p.G73A	DBT_ENST00000370131.3_Missense_Mutation_p.G73A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	73	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AATCCCTTCTCCAATGTCTGA	0.289																																						ENST00000370132.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(217-219)gGa>gCa		dihydrolipoamide branched chain transacylase E2							70	72	71					1																	100701025		2203	4298	6501	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100701025C>G	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.218G>C	1.37:g.100701025C>G	ENSP00000359151:p.Gly73Ala					DBT_ENST00000370131.3_Missense_Mutation_p.G73A	p.G73A	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	3	231	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	73			Lipoyl-binding.		B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.218G>C	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843596	0.91197	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.73681	-0.77;-0.77	5.62	5.62	0.85841	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.90103	0.4186	10	0.87932	D	0	-22.3909	20.0205	0.97499	0.0:1.0:0.0:0.0	.	73	P11182	ODB2_HUMAN	A	73	ENSP00000359151:G73A;ENSP00000359150:G73A	ENSP00000359150:G73A	G	-	2	0	DBT	100473613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.982000	0.76173	2.801000	0.96364	0.650000	0.86243	GGA		0.289	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		73	328	0	0	0	1	0	73	328					G	100701025	C	G	100701025	3	3	102	1	0	0	0	0	1	0	0	0	4269	855	30	5	1266	5	DBT	1	100701025	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6970730	100701025	148549596	20	34875											
ADORA3	140	broad.mit.edu	37	chr1	112033386	112033386	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaggaattctgaatcTgtttaagggaaacagatatg	11	6	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:112033386T>C	ENST00000369716.4	-	2	484		c.e2-2		RNU6-792P_ENST00000363490.1_RNA|ADORA3_ENST00000369717.4_Splice_Site	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor						activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	ATTCTGAATCTGTTTAAGGGA	0.448																																						ENST00000369716.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.e2-2		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						78	72	74					1																	112033386		2203	4300	6503	SO:0001630	splice_region_variant	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112033386T>C	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.351-2A>G	1.37:g.112033386T>C						ADORA3_ENST00000369717.4_Splice_Site		NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	2	484	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)						A2A3P4|Q6UWU0|Q9BYZ1	Splice_Site	SNP	ENST00000369716.4	37		CCDS838.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598438	0.28445	.	.	ENSG00000121933	ENST00000369717;ENST00000369716	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.718	0.34423	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADORA3	111834909	1.000000	0.71417	0.980000	0.43619	0.179000	0.23085	2.961000	0.49168	1.847000	0.53656	0.459000	0.35465	.		0.448	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683	Intron	6	255	0	0	0	1	0	6	255					C	112033386	T	C	112033386	5	2	102	1	0	0	0	0	0	0	1	0	329	1594	55	4	714	4	ADORA3	1	112033386	Splice_Site	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	11332361	112033386	137217235	21	34876											
MOV10	4343	broad.mit.edu	37	chr1	113236698	113236698	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gggcgaccacctgtttgcccTtttgtcctcggagacacacc	10	15	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:113236698T>C	ENST00000413052.2	+	8	1589	c.1199T>C	c.(1198-1200)cTt>cCt	p.L400P	MOV10_ENST00000369645.1_Missense_Mutation_p.L400P|MOV10_ENST00000369644.1_Missense_Mutation_p.L344P|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.L400P|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	400					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)		CTGTTTGCCCTTTTGTCCTCG	0.562																																						ENST00000369644.1																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(1030-1032)cTt>cCt		Mov10, Moloney leukemia virus 10, homolog (mouse)							121	111	114					1																	113236698		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113236698T>C	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.1199T>C	1.37:g.113236698T>C	ENSP00000399797:p.Leu400Pro					MOV10_ENST00000369645.1_Missense_Mutation_p.L400P|MOV10_ENST00000357443.2_Missense_Mutation_p.L400P|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000413052.2_Missense_Mutation_p.L400P|MOV10_ENST00000468624.1_3'UTR	p.L344P			Q9HCE1	MOV10_HUMAN		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)	9	2060	+	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)	400					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.1031T>C	CCDS853.1	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389758	0.25118	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91686	-2.88;-2.88;-2.89;-2.88	5.25	2.89	0.33648	.	1.050180	0.07329	N	0.878903	T	0.73892	0.3645	N	0.22421	0.69	0.09310	N	1	B;P;B	0.48503	0.01;0.911;0.099	B;B;B	0.41813	0.044;0.367;0.102	T	0.66956	-0.5792	10	0.27785	T	0.31	-0.3613	4.3319	0.11067	0.0:0.2327:0.3233:0.444	.	344;400;400	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	P	400;400;400;344;400;338	ENSP00000399797:L400P;ENSP00000358659:L400P;ENSP00000358658:L344P;ENSP00000350028:L400P	ENSP00000285733:L400P	L	+	2	0	MOV10	113038221	0.000000	0.05858	0.006000	0.13384	0.919000	0.55068	0.095000	0.15127	0.440000	0.26502	0.459000	0.35465	CTT		0.562	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		5	474	0	0	0	1	0	5	474					C	113236698	T	C	113236698	3	2	102	1	0	0	0	0	1	0	0	0	9759	1609	56	4	1225	4	MOV10	1	113236698	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	1203312	113236698	136013923	22	34877											
NBPF9	400818	broad.mit.edu	37	chr1	144828652	144828652	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgactcattccagcaCtacagaagtgtgttttactc	6	12	1	2	rs587753379	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:144828652C>G	ENST00000281815.8	+	13	1238	c.492C>G	c.(490-492)caC>caG	p.H164Q	NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.H566Q|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	824						cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						CATTCCAGCACTACAGAAGTG	0.453																																						ENST00000338347.4																			0				NS(2)|prostate(1)	3						c.(1696-1698)caC>caG		neuroblastoma breakpoint family, member 9							27	29	28					1																	144828652		692	1590	2282	SO:0001583	missense	400818							g.chr1:144828652C>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.492C>G	1.37:g.144828652C>G	ENSP00000281815:p.His164Gln					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.H164Q|NBPF9_ENST00000440491.2_3'UTR	p.H566Q							14	1698	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1698C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.268|3.268	-0.149784|-0.149784	0.06585|0.06585	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000338347;ENST00000281815|ENST00000375552	T;T|.	0.05996|.	3.36;3.36|.	0.618|0.618	-0.872|-0.872	0.10638|0.10638	.|.	.|.	.|.	.|.	.|.	T|T	0.09335|0.09335	0.0230|0.0230	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.31879|.	0.001;0.005;0.016;0.056;0.344|.	B;B;B;B;B|.	0.30316|.	0.002;0.023;0.06;0.062;0.114|.	T|T	0.36237|0.36237	-0.9756|-0.9756	7|3	0.48119|.	T|.	0.1|.	.|.	.|.	.|.	.|.	.|.	630;226;797;572;639|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.;.|.	Q|S	566;164|640	ENSP00000342975:H566Q;ENSP00000281815:H164Q|.	ENSP00000281815:H164Q|.	H|T	+|+	3|2	2|0	NBPF9|NBPF9	143540009|143540009	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.747000|-0.747000	0.04823|0.04823	-0.333000|-0.333000	0.08476|0.08476	0.194000|0.194000	0.17425|0.17425	CAC|ACT		0.453	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		6	1401	0	0	0	1	0	6	1401					G	144828652	C	G	144828652	3	3	102	1	0	0	0	0	1	0	0	0	10241	564	20	5	2773	5	NBPF9	1	144828652	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	31591954	144828652	104421969	23	34878											
OTUD7B	56957	broad.mit.edu	37	chr1	149916371	149916371	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctgcttctgttctgccagGaatctctcctcagcatcaga	7	13	6	1	rs199790009		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:149916371G>A	ENST00000369135.4	-	12	2211	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	639					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)			GTTCTGCCAGGAATCTCTCCT	0.517																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1915-1917)ttC>ttT		OTU domain containing 7B							126	126	126					1																	149916371		1990	4180	6170	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916371G>A	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1917C>T	1.37:g.149916371G>A							p.F639F	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2211	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		639					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.1917C>T	CCDS41389.1																																																																																				0.517	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		157	637	0	0	0	1	0	157	637					A	149916371	G	A	149916371	2	1	102	1	0	0	0	0	0	0	0	1	11361	1165	41	2		2	OTUD7B	1	149916371	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5087719	149916371	99334250	24	34879											
CLK2	1196	broad.mit.edu	37	chr1	155233761	155233761	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccgcagcggtttgcagttctCacgaacatagcgcccagctg	11	14	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:155233761C>G	ENST00000368361.4	-	12	1612	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q|SCAMP3_ENST00000355379.3_5'Flank|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q			P49760	CLK2_HUMAN	CDC-like kinase 2	433	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)			TTGCAGTTCTCACGAACATAG	0.542								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1297-1299)Gag>Cag	Other conserved DNA damage response genes	CDC-like kinase 2							88	96	93					1																	155233761		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155233761C>G	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.1297G>C	1.37:g.155233761C>G	ENSP00000357345:p.Glu433Gln					CLK2_ENST00000361168.5_Missense_Mutation_p.E432Q|CLK2_ENST00000355560.4_Missense_Mutation_p.E431Q|CLK2_ENST00000536801.1_Missense_Mutation_p.E433Q|CLK2_ENST00000497188.1_5'UTR	p.E433Q			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		12	1612	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		433			Protein kinase.		B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.1297G>C		.	.	.	.	.	.	.	.	.	.	.	18.88	3.717852	0.68844	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000424156;ENST00000536801	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.2	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100176	0.64402	D	0.000002	T	0.09905	0.0243	N	0.21324	0.655	0.80722	D	1	B;B	0.31174	0.114;0.311	B;B	0.35770	0.093;0.21	T	0.11421	-1.0588	10	0.54805	T	0.06	.	15.6036	0.76646	0.0:1.0:0.0:0.0	.	433;432	P49760;P49760-3	CLK2_HUMAN;.	Q	432;433;431;205;433	ENSP00000354856:E432Q;ENSP00000357345:E433Q;ENSP00000347759:E431Q;ENSP00000441023:E433Q	ENSP00000347759:E431Q	E	-	1	0	CLK2	153500385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.334000	0.79466	0.561000	0.74099	GAG		0.542	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		140	590	0	0	0	1	0	140	590					G	155233761	C	G	155233761	3	3	102	1	0	0	0	0	1	0	0	0	3546	835	29	5	210	5	CLK2	1	155233761	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5317390	155233761	94016860	25	34880											
MNDA	4332	broad.mit.edu	37	chr1	158812091	158812091	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	acaacagaattaagattacaGatttgatggaaaaaaagttc	7	4	0	4	rs140390501		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:158812091G>T	ENST00000368141.4	+	2	409	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	50	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TAAGATTACAGATTTGATGGA	0.338																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(148-150)Gat>Tat		myeloid cell nuclear differentiation antigen							95	100	98					1																	158812091		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158812091G>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.148G>T	1.37:g.158812091G>T	ENSP00000357123:p.Asp50Tyr					MNDA_ENST00000491210.1_3'UTR	p.D50Y	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			2	409	+	all_hematologic(112;0.0378)		50			DAPIN.			Missense_Mutation	SNP	ENST00000368141.4	37	c.148G>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856515	0.32791	.	.	ENSG00000163563	ENST00000368141	T	0.55052	0.54	3.51	-0.707	0.11245	Pyrin (2);	.	.	.	.	T	0.50599	0.1625	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.35822	-0.9773	9	0.87932	D	0	-0.51	6.1692	0.20408	0.5109:0.0:0.4891:0.0	.	50	P41218	MNDA_HUMAN	Y	50	ENSP00000357123:D50Y	ENSP00000357123:D50Y	D	+	1	0	MNDA	157078715	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.547000	0.23299	-0.025000	0.13918	-0.259000	0.10710	GAT		0.338	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		15	404	1	0	7.93312e-07	1	8.26911e-07	15	404					T	158812091	G	T	158812091	3	4	102	1	0	0	0	0	1	0	0	0	9717	942	33	3	150	3	MNDA	1	158812091	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3578330	158812091	90438530	26	34881											
COPA	1314	broad.mit.edu	37	chr1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T													ccaccgcaccaggggacaggINSttttttttcctcagaccttt							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)aacfs	p.N171fs	COPA_ENST00000368069.3_Frame_Shift_Ins_p.N171fs|Y_RNA_ENST00000365208.1_RNA	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(511-513)actfs		coatomer protein complex, subunit alpha																																				SO:0001589	frameshift_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160295426_160295427insT	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.513dupA	1.37:g.160295434_160295434dupT	ENSP00000241704:p.Asn171fs					COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs	p.T171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	741_742	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		171					Q5T201|Q8IXZ9	Frame_Shift_Ins	INS	ENST00000241704.7	37	c.512_513insA	CCDS1202.1																																																																																				0.406	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	646						7	646	---	---	---	---	T	160295427	-	T	160295426	7	5	102	1	0	1	1	0	0	0	0	0	3736	1252	44	0	3296	0	COPA	1	160295426	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	1483335	160295426	88955195	27	34882											
XPR1	9213	broad.mit.edu	37	chr1	180793903	180793903	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttcagctgtatttaaacttGaaacagatagaagtatatgg	8	4	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:180793903G>T	ENST00000367590.4	+	8	976	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.E260*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	260					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						ATTTAAACTTGAAACAGATAG	0.328																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(778-780)Gaa>Taa		xenotropic and polytropic retrovirus receptor 1							81	87	85					1																	180793903		2201	4298	6499	SO:0001587	stop_gained	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180793903G>T	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.778G>T	1.37:g.180793903G>T	ENSP00000356562:p.Glu260*					XPR1_ENST00000367589.3_Nonsense_Mutation_p.E260*	p.E260*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			8	976	+			260					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Nonsense_Mutation	SNP	ENST00000367590.4	37	c.778G>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511924	0.96402	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	.	.	.	5.3	4.33	0.51752	.	0.675652	0.14013	N	0.347315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-5.9541	4.9217	0.13872	0.0811:0.1489:0.6162:0.1538	.	.	.	.	X	260	.	ENSP00000356561:E260X	E	+	1	0	XPR1	179060526	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	2.435000	0.44811	2.489000	0.83994	0.650000	0.86243	GAA		0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		94	292	1	0	3.26951e-42	1	3.58513e-42	94	292					T	180793903	G	T	180793903	4	4	102	1	0	0	0	0	0	1	0	0	17505	1291	45	3	808	3	XPR1	1	180793903	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	20498477	180793903	68456718	28	34883											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185270175	185270175	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgtactgcataggagacatgGgcttttcgattagctcatct	10	9	2	1	rs146850606		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:185270175G>T	ENST00000367498.3	-	10	1671	c.1049C>A	c.(1048-1050)cCc>cAc	p.P350H	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P132H|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	350	Sufficient for AHR interaction and signaling.				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						AGGAGACATGGGCTTTTCGAT	0.453																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1048-1050)cCc>cAc		influenza virus NS1A binding protein		G	HIS/PRO	1,4405	2.1+/-5.4	0,1,2202	174	158	164		1049	5.8	1	1	dbSNP_134	164	0,8600		0,0,4300	no	missense	IVNS1ABP	NM_006469.4	77	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	350/643	185270175	1,13005	2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185270175G>T	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.1049C>A	1.37:g.185270175G>T	ENSP00000356468:p.Pro350His					IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.P132H|IVNS1ABP_ENST00000459929.1_5'UTR	p.P350H	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			10	1671	-			350			Sufficient for AHR interaction and signaling.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1049C>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494380	0.64186	2.27E-4	0.0	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.09255	3.0;3.0	5.78	5.78	0.91487	Galactose oxidase, beta-propeller (1);	0.205916	0.52532	D	0.000062	T	0.11110	0.0271	N	0.08118	0	0.48040	D	0.999577	D;D;D	0.63880	0.993;0.97;0.985	P;P;P	0.53185	0.72;0.541;0.628	T	0.11470	-1.0586	10	0.66056	D	0.02	.	13.2363	0.59971	0.0722:0.0:0.9278:0.0	.	132;51;350	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	H	350;132	ENSP00000356468:P350H;ENSP00000375864:P132H	ENSP00000356468:P350H	P	-	2	0	IVNS1ABP	183536798	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.621000	0.67743	2.724000	0.93272	0.563000	0.77884	CCC		0.453	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		5	419	1	0	2.0095e-06	1	2.08479e-06	5	419					T	185270175	G	T	185270175	3	4	102	1	0	0	0	0	1	0	0	0	7960	1232	43	3	903	3	IVNS1ABP	1	185270175	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4476272	185270175	63980446	29	34884											
HHAT	55733	broad.mit.edu	37	chr1	210637926	210637926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgcctgctctgctcatgCgcctggatggactcactcca	11	15	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:210637926C>T	ENST00000367010.1	+	8	1161	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	HHAT_ENST00000541565.1_Missense_Mutation_p.R175C|HHAT_ENST00000367009.1_Missense_Mutation_p.R2C|HHAT_ENST00000391905.3_Missense_Mutation_p.R312C|HHAT_ENST00000545154.1_Missense_Mutation_p.R313C|HHAT_ENST00000413764.2_Missense_Mutation_p.R312C|HHAT_ENST00000308852.6_Missense_Mutation_p.R267C|HHAT_ENST00000537898.1_Missense_Mutation_p.R247C|HHAT_ENST00000545781.1_Missense_Mutation_p.R249C|HHAT_ENST00000261458.3_Missense_Mutation_p.R312C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	312					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TCTGCTCATGCGCCTGGATGG	0.577																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(934-936)Cgc>Tgc		hedgehog acyltransferase							175	162	166					1																	210637926		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210637926C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.934C>T	1.37:g.210637926C>T	ENSP00000355977:p.Arg312Cys					HHAT_ENST00000261458.3_Missense_Mutation_p.R312C|HHAT_ENST00000545781.1_Missense_Mutation_p.R249C|HHAT_ENST00000545154.1_Missense_Mutation_p.R313C|HHAT_ENST00000541565.1_Missense_Mutation_p.R175C|HHAT_ENST00000308852.6_Missense_Mutation_p.R267C|HHAT_ENST00000537898.1_Missense_Mutation_p.R247C|HHAT_ENST00000367009.1_Missense_Mutation_p.R2C|HHAT_ENST00000413764.2_Missense_Mutation_p.R312C|HHAT_ENST00000391905.3_Missense_Mutation_p.R312C	p.R312C	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	8	1161	+			312					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.934C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990682	0.74589	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968;ENST00000367009	T;T;T;T;T;T;T;T;T;T;T	0.55588	2.09;0.86;2.06;2.11;2.08;2.09;2.09;2.09;2.09;1.77;0.51	5.42	5.42	0.78866	.	0.290731	0.35936	N	0.002896	T	0.70718	0.3256	M	0.70275	2.135	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.999	D;P;D;D;D	0.64506	0.912;0.854;0.926;0.912;0.912	T	0.71371	-0.4613	10	0.48119	T	0.1	-24.7016	17.987	0.89158	0.0:1.0:0.0:0.0	.	267;313;175;247;312	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	C	312;175;313;247;312;249;312;267;312;184;2	ENSP00000416845:R312C;ENSP00000444995:R175C;ENSP00000438468:R313C;ENSP00000442625:R247C;ENSP00000375773:R312C;ENSP00000439229:R249C;ENSP00000261458:R312C;ENSP00000308628:R267C;ENSP00000355977:R312C;ENSP00000413399:R184C;ENSP00000355976:R2C	ENSP00000261458:R312C	R	+	1	0	HHAT	208704549	0.998000	0.40836	1.000000	0.80357	0.866000	0.49608	3.568000	0.53820	2.533000	0.85409	0.555000	0.69702	CGC		0.577	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		7	672	0	0	0	1	0	7	672					T	210637926	C	T	210637926	3	4	102	1	0	0	0	0	1	0	0	0	7119	768	27	1	1058	1	HHAT	1	210637926	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	25367751	210637926	38612695	30	34885											
PROX1	5629	broad.mit.edu	37	chr1	214171209	214171209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgcccctggttgtccGcaaaaactcctctgaccagt	8	15	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:214171209G>A	ENST00000366958.4	+	2	1939	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	PROX1_ENST00000261454.4_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	444					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)		CTGGTTGTCCGCAAAAACTCC	0.627																																						ENST00000366958.4																			0				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						c.(1330-1332)cGc>cAc		prospero homeobox 1							78	87	84					1																	214171209		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171209G>A	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.1331G>A	1.37:g.214171209G>A	ENSP00000355925:p.Arg444His					PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H	p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1939	+			444					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1331G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889855	0.72524	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.55760	0.54;0.5;0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73069	-0.4099	10	0.56958	D	0.05	-3.4891	19.6473	0.95784	0.0:0.0:1.0:0.0	.	444	Q92786	PROX1_HUMAN	H	16;444;444;444;444	ENSP00000420283:R444H;ENSP00000355925:R444H;ENSP00000400694:R444H;ENSP00000261454:R444H	ENSP00000261454:R444H	R	+	2	0	PROX1	212237832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.762000	0.74950	2.650000	0.89964	0.591000	0.81541	CGC		0.627	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		6	677	0	0	0	1	0	6	677					A	214171209	G	A	214171209	3	1	102	1	0	0	0	0	1	0	0	0	12607	1087	38	1	1333	1	PROX1	1	214171209	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3533283	214171209	35079412	31	34886											
RYR2	6262	broad.mit.edu	37	chr1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacctatgcagtgaaggccGgacggtggtattttgaattt	13	6	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3295-3297)Gga>Aga		ryanodine receptor 2 (cardiac)							133	134	134					1																	237729947		1973	4146	6119	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729947G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3295G>A	1.37:g.237729947G>A	ENSP00000355533:p.Gly1099Arg					RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	p.G1099R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3612	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1099			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3295G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569236	0.86439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000010	D	0.96645	0.8905	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1099	Q92736	RYR2_HUMAN	R	1099;1097;1083	ENSP00000355533:G1099R;ENSP00000353174:G1097R;ENSP00000443798:G1083R	ENSP00000353174:G1097R	G	+	1	0	RYR2	235796570	1.000000	0.71417	0.874000	0.34290	0.873000	0.50193	7.924000	0.87555	2.465000	0.83290	0.655000	0.94253	GGA		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	646	0	0	0	1	0	6	646					A	237729947	G	A	237729947	3	1	102	1	0	0	0	0	1	0	0	0	13819	1117	39	1	3405	1	RYR2	1	237729947	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	23558738	237729947	11520674	32	34887											
FMN2	56776	broad.mit.edu	37	chr1	240371335	240371337	+	In_Frame_Del	DEL	CCC	CCC	-													ctctacccggagcgggcataCcccctccgcccccacttccc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:240371335_240371337delCCC	ENST00000319653.9	+	5	3453_3455	c.3223_3225delCCC	c.(3223-3225)cccdel	p.P1079del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1079	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)			AGCGGGCATACCCCCTCCGCCCC	0.729																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3223-3225)del		formin 2				32,2284		3,26,1129						-6.1	0			3	2,4918		0,2,2458	no	coding	FMN2	NM_020066.4		3,28,3587	A1A1,A1R,RR		0.0407,1.3817,0.4699				34,7202				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371335_240371337delCCC	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.3223_3225delCCC	1.37:g.240371335_240371337delCCC	ENSP00000318884:p.Pro1079del						p.P1079del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3453_3455	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1079			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.3223_3225delCCC	CCDS31069.2																																																																																				0.729	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	109						7	109	---	---	---	---	-	240371337	CCC	-	240371335	7	5	102	1	0	1	0	1	0	0	0	0	5975	507	18	0	3241	0	FMN2	1	240371335	In_Frame_Del	DEL	CCC	TCGA-LB-A7SX-01A-11D-A33T-08	2641388	240371335	8879286	33	34888			1	24		3	3	331	N	T_CCT_CCC	7.161047e-06
FMN2	56776	broad.mit.edu	37	chr1	240371652	240371652	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctctaccTggagtgggaatacctcctcc	7	21	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:240371652T>C	ENST00000319653.9	+	5	3770	c.3540T>C	c.(3538-3540)ccT>ccC	p.P1180P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1180	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)			CCCCTCTACCTGGAGTGGGAA	0.687																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3538-3540)ccT>ccC		formin 2							13	14	13					1																	240371652		2198	4292	6490	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371652T>C	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.3540T>C	1.37:g.240371652T>C							p.P1180P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3770	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1180			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3540T>C	CCDS31069.2																																																																																				0.687	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	168	0	0	0	1	0	6	168					C	240371652	T	C	240371652	2	2	102	1	0	0	0	0	0	0	0	1	5975	1567	55	4		4	FMN2	1	240371652	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	317	240371652	8878969	34	34889			1	24		3	3	331	N	T_CCT_CCC	7.161047e-06
FMN2	56776	broad.mit.edu	37	chr1	240371665	240371667	+	In_Frame_Del	DEL	CCT	CCT	-													ctctacctggagtgggaataCctcctccgccccctctacct							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:240371665_240371667delCCT	ENST00000319653.9	+	5	3783_3785	c.3553_3555delCCT	c.(3553-3555)cctdel	p.P1189del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1189	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)			AGTGGGAATACCTCCTCCGCCCC	0.68																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3553-3555)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371665_240371667delCCT	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.3553_3555delCCT	1.37:g.240371668_240371670delCCT	ENSP00000318884:p.Pro1189del						p.P1189del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3783_3785	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1189			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.3553_3555delCCT	CCDS31069.2																																																																																				0.68	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	219						7	219	---	---	---	---	-	240371667	CCT	-	240371665	7	5	102	1	0	1	0	1	0	0	0	0	5975	507	18	0	3571	0	FMN2	1	240371665	In_Frame_Del	DEL	CCT	TCGA-LB-A7SX-01A-11D-A33T-08	13	240371665	8878956	35	34890			1	24		3	3	331	N	T_CCT_CCC	7.161047e-06
OR2L8	391190	broad.mit.edu	37	chr1	248112794	248112794	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tctcgtgtttcccttcattgGtatttcatgttcctatggcc	7	11	3	0	rs200574966		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:248112794G>C	ENST00000357191.3	+	1	635	c.635G>C	c.(634-636)gGt>gCt	p.G212A	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G212A(2)		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)			CCCTTCATTGGTATTTCATGT	0.498																																						ENST00000357191.3																			2	Substitution - Missense(2)	p.G212A(2)	prostate(1)|skin(1)	endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(634-636)gGt>gCt		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							176	87	117					1																	248112794		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112794G>C	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.635G>C	1.37:g.248112794G>C	ENSP00000349719:p.Gly212Ala					OR2L13_ENST00000366478.2_Intron	p.G212A	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	635	+	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)		212					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.635G>C	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.747988	0.00669	.	.	ENSG00000196936	ENST00000357191	T	0.35973	1.28	1.8	-3.61	0.04556	GPCR, rhodopsin-like superfamily (1);	0.592578	0.12695	U	0.446818	T	0.14657	0.0354	N	0.05012	-0.13	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.11817	-1.0572	10	0.46703	T	0.11	.	5.6462	0.17590	0.0:0.2703:0.1902:0.5394	.	212	Q8NGY9	OR2L8_HUMAN	A	212	ENSP00000349719:G212A	ENSP00000349719:G212A	G	+	2	0	OR2L8	246179417	0.000000	0.05858	0.006000	0.13384	0.165000	0.22458	-1.473000	0.02339	-1.273000	0.02424	-0.515000	0.04445	GGT		0.498	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			5	724	0	0	0	1	0	5	724					C	248112794	G	C	248112794	3	2	102	1	0	0	0	0	1	0	0	0	11051	1261	44	5	637	5	OR2L8	1	248112794	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	7741129	248112794	1137827	36	34891											
OR2M7	391196	broad.mit.edu	37	chr1	248487100	248487100	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gatgtgggctgaatgcacatGaacaaacctgctccatagta	10	9	0	2	rs190559379	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr1:248487100G>A	ENST00000317965.2	-	1	799	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATGCACATGAACAAACCTG	0.463																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(769-771)ttC>ttT		olfactory receptor, family 2, subfamily M, member 7							176	159	165					1																	248487100		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487100G>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.771C>T	1.37:g.248487100G>A							p.F257F	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	799	-	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)		257					B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.771C>T	CCDS31111.1																																																																																				0.463	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		28	682	0	0	0	1	0	28	682					A	248487100	G	A	248487100	2	1	102	1	0	0	0	0	0	0	0	1	11056	1281	45	2		2	OR2M7	1	248487100	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	374306	248487100	763521	37	34892											
KCNF1	3754	broad.mit.edu	37	chr2	11053448	11053448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggatcatgcgcatcgcgcGcatcttcaagctggcccgcc	12	16	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:11053448G>A	ENST00000295082.1	+	1	1386	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	299					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)		CGCATCGCGCGCATCTTCAAG	0.642																																						ENST00000295082.1																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(895-897)cGc>cAc		potassium voltage-gated channel, subfamily F, member 1							51	48	49					2																	11053448		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053448G>A	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.896G>A	2.37:g.11053448G>A	ENSP00000295082:p.Arg299His						p.R299H	NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1386	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		299					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.896G>A	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.552813	0.86127	.	.	ENSG00000162975	ENST00000295082	D	0.99591	-6.24	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.97604	1.0125	10	0.87932	D	0	.	18.1029	0.89512	0.0:0.0:1.0:0.0	.	299	Q9H3M0	KCNF1_HUMAN	H	299	ENSP00000295082:R299H	ENSP00000295082:R299H	R	+	2	0	KCNF1	10970899	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.797000	0.99108	2.348000	0.79779	0.556000	0.70494	CGC		0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		4	171	0	0	0	1	0	4	171					A	11053448	G	A	11053448	3	1	102	1	0	0	0	0	1	0	0	0	8056	1087	38	1	898	1	KCNF1	2	11053448	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		11053448	232145925	38	34893											
IFT172	26160	broad.mit.edu	37	chr2	27670430	27670430	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcgtggcatagtaatgagcGatcagcagcatcgtcttgaa	12	9	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:27670430G>A	ENST00000260570.3	-	42	4714	c.4611C>T	c.(4609-4611)atC>atT	p.I1537I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1537					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)					AGTAATGAGCGATCAGCAGCA	0.542																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(4609-4611)atC>atT		intraflagellar transport 172 homolog (Chlamydomonas)							140	124	129					2																	27670430		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27670430G>A	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.4611C>T	2.37:g.27670430G>A							p.I1537I	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			42	4714	-	Acute lymphoblastic leukemia(172;0.155)		1537					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.4611C>T	CCDS1755.1																																																																																				0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		7	603	0	0	0	1	0	7	603					A	27670430	G	A	27670430	2	1	102	1	0	0	0	0	0	0	0	1	7587	1048	37	1		1	IFT172	2	27670430	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	16616982	27670430	215528943	39	34894											
SPDYA	245711	broad.mit.edu	37	chr2	29052132	29052132	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttaaagttaagggaccagCtctgggatagaattgactat	10	6	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:29052132C>T	ENST00000334056.5	+	6	688	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	SPDYA_ENST00000379579.4_Missense_Mutation_p.L167F|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGGGACCAGCTCTGGGATAG	0.348																																						ENST00000334056.5																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(499-501)Ctc>Ttc		speedy/RINGO cell cycle regulator family member A							65	69	68					2																	29052132		2203	4300	6503	SO:0001583	missense	245711				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	g.chr2:29052132C>T	AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.499C>T	2.37:g.29052132C>T	ENSP00000335628:p.Leu167Phe					SPDYA_ENST00000379579.4_Missense_Mutation_p.L167F|SPDYA_ENST00000462832.1_3'UTR	p.L167F	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN			6	688	+	Acute lymphoblastic leukemia(172;0.155)		167			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000334056.5	37	c.499C>T	CCDS1767.2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978601	0.53720	.	.	ENSG00000163806	ENST00000379579;ENST00000334056	.	.	.	5.35	5.35	0.76521	.	0.096409	0.43579	U	0.000554	T	0.62295	0.2416	N	0.25031	0.7	0.58432	D	0.999999	D;D	0.67145	0.996;0.995	P;P	0.61477	0.889;0.823	T	0.59852	-0.7376	9	0.32370	T	0.25	0.5219	19.4215	0.94723	0.0:1.0:0.0:0.0	.	167;167	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	F	167	.	ENSP00000335628:L167F	L	+	1	0	SPDYA	28905636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.309000	0.59135	2.664000	0.90586	0.563000	0.77884	CTC		0.348	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157171.1	NM_182756		9	362	0	0	0	1	0	9	362					T	29052132	C	T	29052132	3	4	102	1	0	0	0	0	1	0	0	0	15079	797	28	2	513	2	SPDYA	2	29052132	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1381702	29052132	214147241	40	34895											
VIT	5212	broad.mit.edu	37	chr2	36970392	36970392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgtgtggcgctgccGtacacaggtgagtggttctg	16	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:36970392G>A	ENST00000389975.3	+	4	570	c.268G>A	c.(268-270)Gta>Ata	p.V90I	VIT_ENST00000497382.1_5'UTR|VIT_ENST00000457137.2_Missense_Mutation_p.V90I|VIT_ENST00000379241.3_Missense_Mutation_p.V90I|VIT_ENST00000404084.1_Missense_Mutation_p.V68I|VIT_ENST00000379242.3_Missense_Mutation_p.V90I|VIT_ENST00000401530.1_Missense_Mutation_p.V90I	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	90	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)				TGGCGCTGCCGTACACAGGTG	0.473																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(268-270)Gta>Ata		vitrin							91	80	84					2																	36970392		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36970392G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.268G>A	2.37:g.36970392G>A	ENSP00000374625:p.Val90Ile					VIT_ENST00000389975.3_Missense_Mutation_p.V90I|VIT_ENST00000457137.2_Missense_Mutation_p.V90I|VIT_ENST00000379241.3_Missense_Mutation_p.V90I|VIT_ENST00000401530.1_Missense_Mutation_p.V90I|VIT_ENST00000404084.1_Missense_Mutation_p.V68I|VIT_ENST00000497382.1_5'UTR	p.V90I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			4	570	+		all_hematologic(82;0.248)	90			LCCL.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.268G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.546624	0.00926	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.78	1.91	0.25777	LCCL (5);	0.243987	0.39407	N	0.001370	T	0.55641	0.1933	N	0.00690	-1.25	0.23478	N	0.997592	B;B;B;B;B;B	0.20052	0.027;0.005;0.041;0.005;0.007;0.012	B;B;B;B;B;B	0.16289	0.011;0.015;0.005;0.015;0.009;0.011	T	0.55817	-0.8081	10	0.06099	T	0.92	-8.7759	6.0137	0.19589	0.4398:0.0:0.5602:0.0	.	90;90;90;90;90;90	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	I	90;90;90;90;68;90;90	ENSP00000368544:V90I;ENSP00000374625:V90I;ENSP00000393561:V90I;ENSP00000384154:V68I;ENSP00000368543:V90I;ENSP00000385658:V90I	ENSP00000368543:V90I	V	+	1	0	VIT	36823896	0.991000	0.36638	0.027000	0.17364	0.009000	0.06853	2.641000	0.46587	0.528000	0.28580	0.655000	0.94253	GTA		0.473	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				5	328	0	0	0	1	0	5	328					A	36970392	G	A	36970392	3	1	102	1	0	0	0	0	1	0	0	0	17225	1145	40	1	278	1	VIT	2	36970392	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	7918260	36970392	206228981	41	34896											
EIF2AK2	5610	broad.mit.edu	37	chr2	37365423	37365423	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatacgataccataagcaacGaagaactgtttaaactgtca	6	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:37365423G>A	ENST00000233057.4	-	8	999	c.677C>T	c.(676-678)tCg>tTg	p.S226L	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S226L|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S226L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	226					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CATAAGCAACGAAGAACTGTT	0.358																																						ENST00000233057.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22						c.(676-678)tCg>tTg		eukaryotic translation initiation factor 2-alpha kinase 2							121	122	122					2																	37365423		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37365423G>A	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.677C>T	2.37:g.37365423G>A	ENSP00000233057:p.Ser226Leu					EIF2AK2_ENST00000405334.1_Missense_Mutation_p.S226L|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.S226L	p.S226L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN			8	999	-		all_hematologic(82;0.248)	226					A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.677C>T	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	G	9.576	1.122371	0.20877	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.76448	-0.99;-0.99;-1.02	2.93	-0.132	0.13489	.	2.710630	0.01408	N	0.013874	T	0.75102	0.3804	M	0.71581	2.175	0.09310	N	1	B;B;B;B	0.14805	0.011;0.011;0.003;0.003	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	T	0.45101	-0.9284	10	0.26408	T	0.33	0.431	6.4738	0.22024	0.3144:0.0:0.6856:0.0	.	226;226;226;226	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	L	226	ENSP00000233057:S226L;ENSP00000378559:S226L;ENSP00000385014:S226L	ENSP00000233057:S226L	S	-	2	0	EIF2AK2	37218927	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.674000	0.05233	-0.052000	0.13311	0.557000	0.71058	TCG		0.358	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2	NM_002759		24	298	0	0	0	1	0	24	298					A	37365423	G	A	37365423	3	1	102	1	0	0	0	0	1	0	0	0	5013	1059	37	1	1018	1	EIF2AK2	2	37365423	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	395031	37365423	205833950	42	34897											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.64	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			10	477						10	477	---	---	---	---	-	63283261	CCA	-	63283259	7	5	102	1	0	1	0	1	0	0	0	0	11362	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-LB-A7SX-01A-11D-A33T-08	25917836	63283259	179916114	43	34898											
UGP2	7360	broad.mit.edu	37	chr2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-													ttctattttcacagcacaccAaaaaagacctggatggattt							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aaafs	p.K53fs	UGP2_ENST00000487469.1_Intron|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|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)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358																																						ENST00000337130.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(154-156)aafs		UDP-glucose pyrophosphorylase 2							161	191	181					2																	64084969		2203	4300	6503	SO:0001589	frameshift_variant	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64084969delA		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"UDP-glucose pyrophosphorylase 1"	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.154delA	2.37:g.64084969delA	ENSP00000338703:p.Lys53fs					UGP2_ENST00000487469.1_Intron|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs	p.K53fs	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN			3	630	+			53					Q07131|Q0P6K2|Q86Y81|Q9BU15	Frame_Shift_Del	DEL	ENST00000337130.5	37	c.154delA	CCDS1875.1																																																																																				0.358	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		8	1624						8	1624	---	---	---	---	-	64084969	A	-	64084969	7	5	102	1	0	1	0	1	0	0	0	0	16997	131	5	0	164	0	UGP2	2	64084969	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	801710	64084969	179114404	44	34899											
SMYD5	10322	broad.mit.edu	37	chr2	73451115	73451115	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggatctggcctcttTgtgcttcagagctgctgtga	13	8	3	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:73451115T>G	ENST00000389501.4	+	10	969	c.924T>G	c.(922-924)ttT>ttG	p.F308L		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	308	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTGGCCTCTTTGTGCTTCAGA	0.478																																						ENST00000389501.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(922-924)ttT>ttG		SMYD family member 5							230	209	216					2																	73451115		2203	4300	6503	SO:0001583	missense	10322						metal ion binding	g.chr2:73451115T>G	U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.924T>G	2.37:g.73451115T>G	ENSP00000374152:p.Phe308Leu						p.F308L	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN			10	969	+			308			SET.		D6W5H3|Q13558	Missense_Mutation	SNP	ENST00000389501.4	37	c.924T>G	CCDS33221.2	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521334	0.64747	.	.	ENSG00000135632	ENST00000389501	T	0.81415	-1.49	4.77	2.14	0.27477	SET domain (2);	0.218148	0.48767	D	0.000176	T	0.73125	0.3547	L	0.45581	1.43	0.40606	D	0.981624	B	0.29481	0.245	B	0.35182	0.197	T	0.70594	-0.4829	10	0.66056	D	0.02	-8.2184	6.1113	0.20102	0.0:0.5224:0.0:0.4776	.	308	Q6GMV2	SMYD5_HUMAN	L	308	ENSP00000374152:F308L	ENSP00000374152:F308L	F	+	3	2	SMYD5	73304623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.888000	0.28268	0.815000	0.34398	0.533000	0.62120	TTT		0.478	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318301.1	NM_006062		84	628	0	0	0	1	0	84	628					G	73451115	T	G	73451115	3	3	102	1	0	0	0	0	1	0	0	0	14875	1809	63	4	962	4	SMYD5	2	73451115	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	9366146	73451115	169748258	45	34900											
DGUOK	1716	broad.mit.edu	37	chr2	74154141	74154141	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaggcctgcacgcggGgcgcgggccccgaaggctct	16	16	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74154141G>A	ENST00000264093.4	+	1	189	c.104G>A	c.(103-105)gGg>gAg	p.G35E	DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000356837.6_Missense_Mutation_p.G35E|DGUOK_ENST00000348222.1_Missense_Mutation_p.G35E	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	35					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)	CTGCACGCGGGGCGCGGGCCC	0.672																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(103-105)gGg>gAg		deoxyguanosine kinase							35	38	37					2																	74154141		2203	4299	6502	SO:0001583	missense	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74154141G>A	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.104G>A	2.37:g.74154141G>A	ENSP00000264093:p.Gly35Glu					DGUOK_ENST00000348222.1_Missense_Mutation_p.G35E|DGUOK_ENST00000356837.6_Missense_Mutation_p.G35E|DGUOK_ENST00000462685.1_3'UTR	p.G35E	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			1	189	+			35					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	ENST00000264093.4	37	c.104G>A	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016699	0.54468	.	.	ENSG00000114956	ENST00000264093;ENST00000348222;ENST00000356837;ENST00000347161	D;D;D	0.99832	-5.27;-4.72;-7.02	4.19	1.14	0.20703	.	0.757041	0.13116	N	0.412588	D	0.98438	0.9480	L	0.38838	1.175	0.24671	N	0.99342	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	D	0.99942	1.1420	10	0.07175	T	0.84	-3.3064	5.3436	0.15996	0.4514:0.0:0.5486:0.0	.	35;35	E5KSL6;Q16854	.;DGUOK_HUMAN	E	35	ENSP00000264093:G35E;ENSP00000306964:G35E;ENSP00000349294:G35E	ENSP00000264093:G35E	G	+	2	0	DGUOK	74007649	0.784000	0.28713	0.720000	0.30636	0.681000	0.39784	0.699000	0.25586	0.222000	0.20900	0.655000	0.94253	GGG		0.672	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			6	447	0	0	0	1	0	6	447					A	74154141	G	A	74154141	3	1	102	1	0	0	0	0	1	0	0	0	4491	1232	43	2	106	2	DGUOK	2	74154141	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	703026	74154141	169045232	46	34901											
MOGS	7841	broad.mit.edu	37	chr2	74689698	74689698	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaataccagcccttgtccGtagaagtagccaattccacc	8	14	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:74689698G>A	ENST00000233616.4	-	4	1380	c.1218C>T	c.(1216-1218)taC>taT	p.Y406Y	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.Y300Y|MOGS_ENST00000462443.1_5'Flank	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	406					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCCTTGTCCGTAGAAGTAGC	0.582																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1216-1218)taC>taT		mannosyl-oligosaccharide glucosidase							105	116	112					2																	74689698		1948	4131	6079	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689698G>A	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1218C>T	2.37:g.74689698G>A						MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.Y300Y	p.Y406Y	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1380	-			406					A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.1218C>T	CCDS42700.1																																																																																				0.582	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		6	980	0	0	0	1	0	6	980					A	74689698	G	A	74689698	2	1	102	1	0	0	0	0	0	0	0	1	9738	1140	40	1		1	MOGS	2	74689698	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	535557	74689698	168509675	47	34902											
INPP4A	3631	broad.mit.edu	37	chr2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagagccaaggagatcatcGcccagatcaacaccctgaaa	8	13	3	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:99169316G>A	ENST00000523221.1	+	13	1246	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409016.4_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000074304.5_Missense_Mutation_p.A416T			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	416					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						GGAGATCATCGCCCAGATCAA	0.517																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(1246-1248)Gcc>Acc		inositol polyphosphate-4-phosphatase, type I, 107kDa							80	77	78					2																	99169316		2005	4167	6172	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99169316G>A	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.1246G>A	2.37:g.99169316G>A	ENSP00000427722:p.Ala416Thr					INPP4A_ENST00000409016.3_Missense_Mutation_p.A416T|INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron	p.A416T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			15	1639	+			416					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1246G>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847369	0.91277	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	5.03	5.03	0.67393	.	0.054882	0.64402	D	0.000001	T	0.25644	0.0624	L	0.40543	1.245	0.54753	D	0.999988	D;D;D;D	0.58268	0.959;0.978;0.982;0.982	B;B;P;P	0.47864	0.357;0.378;0.559;0.559	T	0.00790	-1.1565	10	0.36615	T	0.2	-24.8771	17.5362	0.87832	0.0:0.0:1.0:0.0	.	416;416;416;411	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	T	416;411;416;416;416;416	ENSP00000386704:A416T;ENSP00000386777:A411T;ENSP00000074304:A416T;ENSP00000442149:A416T;ENSP00000387294:A416T;ENSP00000427722:A416T	ENSP00000074304:A416T	A	+	1	0	INPP4A	98535748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.492000	0.81482	2.608000	0.88229	0.655000	0.94253	GCC		0.517	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		8	140	0	0	0	1	0	8	140					A	99169316	G	A	99169316	3	1	102	1	0	0	0	0	1	0	0	0	7782	1087	38	1	1296	1	INPP4A	2	99169316	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	24479618	99169316	144030057	48	34903											
AFF3	3899	broad.mit.edu	37	chr2	100623429	100623429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cacttgtttggcccgaggctGctgtctgccaacaccatctc	9	15	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:100623429G>T	ENST00000409236.2	-	5	650	c.538C>A	c.(538-540)Cag>Aag	p.Q180K	AFF3_ENST00000317233.4_Missense_Mutation_p.Q180K|AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	180					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						GCCCGAGGCTGCTGTCTGCCA	0.582																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(538-540)Cag>Aag		AF4/FMR2 family, member 3							48	50	50					2																	100623429		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623429G>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.538C>A	2.37:g.100623429G>T	ENSP00000387207:p.Gln180Lys					AFF3_ENST00000409579.1_Missense_Mutation_p.Q205K|AFF3_ENST00000409236.1_Missense_Mutation_p.Q180K|AFF3_ENST00000356421.2_Missense_Mutation_p.Q205K	p.Q180K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			6	773	-			180					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.538C>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375513	0.24857	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.36	4.48	0.54585	.	0.250032	0.28317	N	0.015799	T	0.53077	0.1774	N	0.08118	0	0.26248	N	0.978761	B;B;D;B;B	0.59357	0.425;0.372;0.985;0.425;0.372	B;B;D;B;B	0.73708	0.192;0.085;0.981;0.192;0.121	T	0.48258	-0.9051	10	0.06236	T	0.91	.	8.8744	0.35337	0.0751:0.0:0.7765:0.1484	.	334;334;180;180;205	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	K	180;205;205;180;180;334;205	ENSP00000317421:Q180K;ENSP00000348793:Q205K;ENSP00000386834:Q205K;ENSP00000387207:Q180K	ENSP00000317421:Q180K	Q	-	1	0	AFF3	99989861	1.000000	0.71417	0.988000	0.46212	0.886000	0.51366	6.148000	0.71788	1.259000	0.44117	0.585000	0.79938	CAG		0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		22	361	1	0	3.62473e-10	1	3.85073e-10	22	361					T	100623429	G	T	100623429	3	4	102	1	0	0	0	0	1	0	0	0	358	1328	46	3	3218	3	AFF3	2	100623429	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1454113	100623429	142575944	49	34904											
RANBP2	5903	broad.mit.edu	37	chr2	109367778	109367778	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttggcttggcttacagtgGaattcattgcctgctttacc	9	10	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:109367778G>A	ENST00000283195.6	+	10	1458	c.1332G>A	c.(1330-1332)tgG>tgA	p.W444*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	444					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						GCTTACAGTGGAATTCATTGC	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1330-1332)tgG>tgA		RAN binding protein 2							27	31	30					2																	109367778		1439	2642	4081	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367778G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1332G>A	2.37:g.109367778G>A	ENSP00000283195:p.Trp444*						p.W444*	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1458	+			444					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.1332G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	39	7.400347	0.98262	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6229	18.8314	0.92141	0.0:0.0:1.0:0.0	.	.	.	.	X	444	.	ENSP00000283195:W444X	W	+	3	0	RANBP2	108734210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.957000	0.93082	2.521000	0.84997	0.650000	0.86243	TGG		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		220	560	0	0	0	1	0	220	560					A	109367778	G	A	109367778	4	1	102	1	0	0	0	0	0	1	0	0	13078	1183	41	2	1370	2	RANBP2	2	109367778	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8744349	109367778	133831595	50	34905											
NCKAP5	344148	broad.mit.edu	37	chr2	133887563	133887563	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acaatacctggagaactgctGctgcaagctacgcatctgaa	9	11	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:133887563G>T	ENST00000409261.1	-	6	701	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q110K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q110K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	110										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						GAGAACTGCTGCTGCAAGCTA	0.488																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(328-330)Cag>Aag		NCK-associated protein 5							91	91	91					2																	133887563		2010	4181	6191	SO:0001583	missense	344148						protein binding	g.chr2:133887563G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.328C>A	2.37:g.133887563G>T	ENSP00000387128:p.Gln110Lys					NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q110K|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q110K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q110K	p.Q110K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			6	701	-			110					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.328C>A	CCDS46418.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909250|2.909250	0.52439|0.52439	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.44083|.	2.93;0.93;2.93;0.93|.	6.17|6.17	2.06|2.06	0.26882|0.26882	.|.	.|.	.|.	.|.	.|.	T|T	0.22513|0.22513	0.0543|0.0543	N|N	0.24115|0.24115	0.695|0.695	0.23120|0.23120	N|N	0.998262|0.998262	B;B;B;B|.	0.29988|.	0.017;0.082;0.264;0.242|.	B;B;B;B|.	0.31101|.	0.031;0.032;0.124;0.055|.	T|T	0.21793|0.21793	-1.0235|-1.0235	9|5	0.49607|.	T|.	0.09|.	.|.	4.4369|4.4369	0.11555|0.11555	0.0791:0.2901:0.4811:0.1497|0.0791:0.2901:0.4811:0.1497	.|.	110;85;110;110|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	K|R	110;110;110;110;110;85|105	ENSP00000387128:Q110K;ENSP00000386952:Q110K;ENSP00000380603:Q110K;ENSP00000385692:Q110K|.	ENSP00000380603:Q110K|.	Q|S	-|-	1|3	0|2	NCKAP5|NCKAP5	133604033|133604033	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	1.743000|1.743000	0.38258|0.38258	0.433000|0.433000	0.26313|0.26313	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.488	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		22	62	1	0	1.10513e-12	1	1.18829e-12	22	62					T	133887563	G	T	133887563	3	4	102	1	0	0	0	0	1	0	0	0	10265	1328	46	3	5461	3	NCKAP5	2	133887563	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	24519785	133887563	109311810	51	34906											
NEB	4703	broad.mit.edu	37	chr2	152586137	152586137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggccttacctctcccgGcacctcttcgtaaaccactt	7	17	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:152586137G>A	ENST00000172853.10	-	4	217	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S	NEB_ENST00000409198.1_Missense_Mutation_p.P24S|NEB_ENST00000427231.2_Missense_Mutation_p.P24S|NEB_ENST00000604864.1_Missense_Mutation_p.P24S|NEB_ENST00000603639.1_Missense_Mutation_p.P24S|NEB_ENST00000397345.3_Missense_Mutation_p.P24S			P20929	NEBU_HUMAN	nebulin	24					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)		ACCTCTCCCGGCACCTCTTCG	0.498																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(70-72)Ccg>Tcg		nebulin							120	117	118					2																	152586137		1984	4158	6142	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152586137G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.70C>T	2.37:g.152586137G>A	ENSP00000172853:p.Pro24Ser					NEB_ENST00000427231.2_Missense_Mutation_p.P24S|NEB_ENST00000409198.1_Missense_Mutation_p.P24S|NEB_ENST00000603639.1_Missense_Mutation_p.P24S|NEB_ENST00000604864.1_Missense_Mutation_p.P24S|NEB_ENST00000172853.10_Missense_Mutation_p.P24S	p.P24S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	4	272	-			24					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.70C>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.337225	0.81911	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.09723	2.98;2.95;2.95;2.98	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000011	T	0.18800	0.0451	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.08269	-1.0730	10	0.14252	T	0.57	.	15.055	0.71908	0.0:0.0:1.0:0.0	.	24	P20929	NEBU_HUMAN	S	24	ENSP00000386259:P24S;ENSP00000380505:P24S;ENSP00000416578:P24S;ENSP00000172853:P24S	ENSP00000172853:P24S	P	-	1	0	NEB	152294383	0.999000	0.42202	0.998000	0.56505	0.901000	0.52897	4.866000	0.63005	2.622000	0.88805	0.655000	0.94253	CCG		0.498	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	574	0	0	0	1	0	5	574					A	152586137	G	A	152586137	3	1	102	1	0	0	0	0	1	0	0	0	10344	1203	42	2	26332	2	NEB	2	152586137	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	18698574	152586137	90613236	52	34907											
MARCH7	64844	broad.mit.edu	37	chr2	160605268	160605268	+	Frame_Shift_Del	DEL	T	T	-													ttattccggtttgcagtcccTccagcacttgggagtaattt					rs1365803	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:160605268delT	ENST00000259050.4	+	5	1589	c.1467delT	c.(1465-1467)cctfs	p.P490fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.P452fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.P490fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.P434fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	490					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTGCAGTCCCTCCAGCACTTG	0.428																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(1465-1467)ccfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							192	211	205					2																	160605268		2203	4300	6503	SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160605268delT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1467delT	2.37:g.160605268delT	ENSP00000259050:p.Pro490fs					MARCH7_ENST00000409591.1_Frame_Shift_Del_p.P452fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.P490fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.P434fs	p.P490fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1589	+			490					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	c.1467delT	CCDS2210.1																																																																																				0.428	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		7	1732						7	1732	---	---	---	---	-	160605268	T	-	160605268	7	5	102	1	0	1	0	1	0	0	0	0	9347	1538	54	0	1481	0	MARCH7	2	160605268	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	8019131	160605268	82594105	53	34908											
IFIH1	64135	broad.mit.edu	37	chr2	163144827	163144827	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtaaggcctgagctggagttCtggctccggggatgctcttg	16	9	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:163144827C>T	ENST00000263642.2	-	5	1308	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	305					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AGCTGGAGTTCTGGCTCCGGG	0.478																																						ENST00000263642.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(913-915)Gaa>Aaa		interferon induced with helicase C domain 1							71	68	69					2																	163144827		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163144827C>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.913G>A	2.37:g.163144827C>T	ENSP00000263642:p.Glu305Lys						p.E305K	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN			5	1308	-			305					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.913G>A	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663722	0.67700	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.53640	0.61	6.03	5.16	0.70880	DEAD-like helicase (1);	0.117044	0.56097	D	0.000030	T	0.45955	0.1368	L	0.38838	1.175	0.43054	D	0.994663	P	0.48162	0.906	P	0.48738	0.588	T	0.49293	-0.8955	10	0.72032	D	0.01	-17.0742	10.9061	0.47081	0.0:0.8028:0.1295:0.0677	.	305	Q9BYX4	IFIH1_HUMAN	K	305	ENSP00000263642:E305K	ENSP00000263642:E305K	E	-	1	0	IFIH1	162853073	1.000000	0.71417	0.971000	0.41717	0.967000	0.64934	3.203000	0.51075	1.562000	0.49601	0.557000	0.71058	GAA		0.478	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		92	246	0	0	0	1	0	92	246					T	163144827	C	T	163144827	3	4	102	1	0	0	0	0	1	0	0	0	7550	922	32	2	2212	2	IFIH1	2	163144827	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2539559	163144827	80054546	54	34909											
KIAA1715	80856	broad.mit.edu	37	chr2	176829253	176829253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctttgctttctttgagtccGgatcaaacctttcaagaatt	6	10	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:176829253G>A	ENST00000272748.4	-	7	669	c.422C>T	c.(421-423)cCg>cTg	p.P141L	KIAA1715_ENST00000544803.1_Missense_Mutation_p.P141L|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P66L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	141					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)			CTTTGAGTCCGGATCAAACCT	0.299																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(421-423)cCg>cTg		KIAA1715							102	106	105					2																	176829253		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176829253G>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.422C>T	2.37:g.176829253G>A	ENSP00000272748:p.Pro141Leu					KIAA1715_ENST00000544803.1_Missense_Mutation_p.P141L|KIAA1715_ENST00000535310.1_Missense_Mutation_p.P66L	p.P141L	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		7	669	-			141					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.422C>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942413	0.73672	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.4	5.4	0.78164	.	0.047246	0.85682	D	0.000000	T	0.79203	0.4406	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.71674	0.994;0.998;0.966;0.995	P;P;B;P	0.60068	0.701;0.868;0.361;0.811	T	0.81929	-0.0708	9	0.87932	D	0	-11.8135	19.5476	0.95305	0.0:0.0:1.0:0.0	.	143;141;138;141	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	L	141;143;18;141;66	.	ENSP00000272748:P141L	P	-	2	0	KIAA1715	176537499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.361000	0.97122	2.681000	0.91329	0.650000	0.86243	CCG		0.299	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		5	341	0	0	0	1	0	5	341					A	176829253	G	A	176829253	3	1	102	1	0	0	0	0	1	0	0	0	8284	1116	39	1	892	1	KIAA1715	2	176829253	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13684426	176829253	66370120	55	34910											
COL3A1	1281	broad.mit.edu	37	chr2	189868505	189868505	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcttcctggtcctcctGgtagtaatgtaagtaattgt	11	7	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:189868505G>A	ENST00000304636.3	+	38	2823	c.2653G>A	c.(2653-2655)Ggt>Agt	p.G885S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	885	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)	TGGTCCTCCTGGTAGTAATGT	0.363																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2653-2655)Ggt>Agt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						136	132	133					2																	189868505		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189868505G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2653G>A	2.37:g.189868505G>A	ENSP00000304408:p.Gly885Ser					COL3A1_ENST00000317840.5_Intron	p.G885S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		38	2823	+			885			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2653G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087492	0.76642	.	.	ENSG00000168542	ENST00000304636	D	0.99607	-6.27	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000071	D	0.99718	0.9891	H	0.97077	3.935	0.80722	D	1	D	0.67145	0.996	D	0.63597	0.916	D	0.97479	1.0046	10	0.87932	D	0	.	13.6693	0.62416	0.0738:0.0:0.9262:0.0	.	885	P02461	CO3A1_HUMAN	S	885	ENSP00000304408:G885S	ENSP00000304408:G885S	G	+	1	0	COL3A1	189576750	1.000000	0.71417	0.983000	0.44433	0.893000	0.52053	7.914000	0.87478	2.590000	0.87494	0.551000	0.68910	GGT		0.363	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		14	376	0	0	0	1	0	14	376					A	189868505	G	A	189868505	3	1	102	1	0	0	0	0	1	0	0	0	3697	1348	47	2	2803	2	COL3A1	2	189868505	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13039252	189868505	53330868	56	34911											
PNKD	25953	broad.mit.edu	37	chr2	219204548	219204548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggctcgggtacctcttctaCcgacagcagctgcgcagggc	13	14	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:219204548C>T	ENST00000273077.4	+	3	330	c.279C>T	c.(277-279)taC>taT	p.Y93Y	PNKD_ENST00000436005.2_Silent_p.Y33Y|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.Y69Y	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	93					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCTTCTACCGACAGCAGC	0.607																																						ENST00000273077.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						c.(277-279)taC>taT		paroxysmal nonkinesigenic dyskinesia							56	57	56					2																	219204548		2203	4300	6503	SO:0001819	synonymous_variant	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219204548C>T		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.279C>T	2.37:g.219204548C>T						PNKD_ENST00000258362.3_Silent_p.Y69Y|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Silent_p.Y33Y	p.Y93Y	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	330	+		Renal(207;0.0474)	93					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Silent	SNP	ENST00000273077.4	37	c.279C>T	CCDS2411.1																																																																																				0.607	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			8	186	0	0	0	1	0	8	186					T	219204548	C	T	219204548	2	4	102	1	0	0	0	0	0	0	0	1	12188	518	18	2		2	PNKD	2	219204548	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	29336043	219204548	23994825	57	34912											
CDK5R2	8941	broad.mit.edu	37	chr2	219825179	219825179	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgagctggtgggctggTtccgcggtgtggaccgctcg	20	11	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:219825179T>C	ENST00000302625.4	+	1	803	c.637T>C	c.(637-639)Ttc>Ctc	p.F213L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	213					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)		GGTGGGCTGGTTCCGCGGTGT	0.672																																						ENST00000302625.4																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(637-639)Ttc>Ctc		cyclin-dependent kinase 5, regulatory subunit 2 (p39)							33	34	33					2																	219825179		2203	4300	6503	SO:0001583	missense	8941				regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity	g.chr2:219825179T>C	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.637T>C	2.37:g.219825179T>C	ENSP00000304250:p.Phe213Leu					AC097468.7_ENST00000429343.1_RNA	p.F213L	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	803	+		Renal(207;0.0474)	213					Q4ZFW6	Missense_Mutation	SNP	ENST00000302625.4	37	c.637T>C	CCDS2427.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.706450	0.30232	.	.	ENSG00000171450	ENST00000302625	T	0.68903	-0.36	4.22	4.22	0.49857	Cyclin-like (2);	0.000000	0.64402	U	0.000013	T	0.33876	0.0878	N	0.00972	-1.085	0.44000	D	0.996707	B	0.23185	0.081	B	0.28849	0.095	T	0.43845	-0.9366	10	0.02654	T	1	.	13.1246	0.59346	0.0:0.0:0.0:1.0	.	213	Q13319	CD5R2_HUMAN	L	213	ENSP00000304250:F213L	ENSP00000304250:F213L	F	+	1	0	CDK5R2	219533423	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.497000	0.45354	1.767000	0.52121	0.528000	0.53228	TTC		0.672	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1	NM_003936		4	260	0	0	0	1	0	4	260					C	219825179	T	C	219825179	3	2	102	1	0	0	0	0	1	0	0	0	3153	1725	60	4	639	4	CDK5R2	2	219825179	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	620631	219825179	23374194	58	34913											
ARMC9	80210	broad.mit.edu	37	chr2	232104753	232104753	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcacgaggcctgggaCggtgaggctctgcgctcagg	17	11	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:232104753C>T	ENST00000349938.4	+	9	1072	c.878C>T	c.(877-879)aCg>aTg	p.T293M	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	293						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)		AGGCCTGGGACGGTGAGGCTC	0.522																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.e9+1		armadillo repeat containing 9							57	46	50					2																	232104753		2203	4300	6503	SO:0001630	splice_region_variant	80210						binding	g.chr2:232104753C>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"Armadillo repeat containing"	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.879+1C>T	2.37:g.232104753C>T						ARMC9_ENST00000483477.1_3'UTR	p.T293_splice	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	9	1072	+		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)	293					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Splice_Site	SNP	ENST00000349938.4	37	c.879_splice	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581425	0.65992	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000444285	T;T	0.45276	2.08;0.9	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.66148	-0.5996	10	0.62326	D	0.03	-19.4815	16.518	0.84306	0.0:1.0:0.0:0.0	.	293	Q7Z3E5	ARMC9_HUMAN	M	293;293;47	ENSP00000258417:T293M;ENSP00000407146:T47M	ENSP00000258417:T293M	T	+	2	0	ARMC9	231812997	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.989000	0.76219	2.309000	0.77851	0.561000	0.74099	ACG		0.522	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	Missense_Mutation	50	61	0	0	0	1	0	50	61					T	232104753	C	T	232104753	5	4	102	1	0	0	0	0	0	0	1	0	959	550	19	1	908	1	ARMC9	2	232104753	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12279574	232104753	11094620	59	34914											
SH3BP4	23677	broad.mit.edu	37	chr2	235949825	235949825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcccagacgaggtagccaagGagctggagctgctcggggga	18	10	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr2:235949825G>A	ENST00000409212.1	+	4	919	c.412G>A	c.(412-414)Gag>Aag	p.E138K	SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	138					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)		GGTAGCCAAGGAGCTGGAGCT	0.507																																						ENST00000409212.1																			0				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						c.(412-414)Gag>Aag		SH3-domain binding protein 4							86	85	85					2																	235949825		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949825G>A	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.412G>A	2.37:g.235949825G>A	ENSP00000386862:p.Glu138Lys					SH3BP4_ENST00000392011.2_Missense_Mutation_p.E138K|SH3BP4_ENST00000344528.4_Missense_Mutation_p.E138K	p.E138K			Q9P0V3	SH3B4_HUMAN		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)	4	919	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	138					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.412G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080730	0.76528	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528;ENST00000446904	T;T;T;T	0.34275	2.74;2.74;2.74;1.37	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.72338	0.977;0.977	T	0.49485	-0.8935	10	0.54805	T	0.06	-0.3903	17.7288	0.88371	0.0:0.0:1.0:0.0	.	138;138	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	138	ENSP00000375867:E138K;ENSP00000386862:E138K;ENSP00000340237:E138K;ENSP00000415391:E138K	ENSP00000340237:E138K	E	+	1	0	SH3BP4	235614564	1.000000	0.71417	0.953000	0.39169	0.031000	0.12232	9.549000	0.98106	2.519000	0.84933	0.655000	0.94253	GAG		0.507	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			45	350	0	0	0	1	0	45	350					A	235949825	G	A	235949825	3	1	102	1	0	0	0	0	1	0	0	0	14296	1175	41	2	418	2	SH3BP4	2	235949825	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3845072	235949825	7249548	60	34915											
CHL1	10752	broad.mit.edu	37	chr3	367698	367698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tccaagttgcctttcccttcGatgagtattttcaaattgaa	6	9	1	2	rs150837773		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:367698G>A	ENST00000256509.2	+	4	790	c.148G>A	c.(148-150)Gat>Aat	p.D50N	CHL1_ENST00000397491.2_Missense_Mutation_p.D50N	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)		CTTTCCCTTCGATGAGTATTT	0.333																																						ENST00000256509.2																			0				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						c.(148-150)Gat>Aat		cell adhesion molecule L1-like		G	ASN/ASP	0,4404		0,0,2202	86	87	87		148	5.7	0.9	3	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHL1	NM_006614.2	23	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	50/1225	367698	1,13003	2202	4300	6502	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367698G>A	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.148G>A	3.37:g.367698G>A	ENSP00000256509:p.Asp50Asn					CHL1_ENST00000397491.2_Missense_Mutation_p.D50N	p.D50N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		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)	4	790	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	50			Ig-like C2-type 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.148G>A	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724427	0.89298	0.0	1.16E-4	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;D	0.95885	-0.27;-0.27;0.19;-0.27;-0.27;-3.84	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.182770	0.46145	D	0.000309	D	0.96719	0.8929	L	0.45744	1.44	0.53688	D	0.999976	D;D;D	0.89917	0.992;1.0;1.0	P;D;D	0.87578	0.808;0.998;0.995	D	0.96379	0.9280	10	0.45353	T	0.12	.	17.9886	0.89162	0.0:0.0:1.0:0.0	.	50;50;50	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	N	50	ENSP00000256509:D50N;ENSP00000380628:D50N;ENSP00000403311:D50N;ENSP00000413628:D50N;ENSP00000397445:D50N;ENSP00000390440:D50N	ENSP00000256509:D50N	D	+	1	0	CHL1	342698	1.000000	0.71417	0.950000	0.38849	0.738000	0.42128	7.870000	0.87175	2.669000	0.90835	0.551000	0.68910	GAT		0.333	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		7	212	0	0	0	1	0	7	212					A	367698	G	A	367698	3	1	102	1	0	0	0	0	1	0	0	0	3358	1058	37	1	154	1	CHL1	3	367698	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		367698	197654732	61	34916											
ATP2B2	491	broad.mit.edu	37	chr3	10442753	10442753	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggccgtcggcagggAggaggtcacctggcaagagg	19	8	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:10442753A>G	ENST00000352432.4	-	4	734	c.665T>C	c.(664-666)cTc>cCc	p.L222P	ATP2B2_ENST00000360273.2_Missense_Mutation_p.L222P|ATP2B2_ENST00000383800.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000397077.1_Missense_Mutation_p.L222P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	222					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						GTCGGCAGGGAGGAGGTCACC	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(664-666)cTc>cCc		ATPase, Ca++ transporting, plasma membrane 2							70	66	67					3																	10442753		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10442753A>G	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.665T>C	3.37:g.10442753A>G	ENSP00000324172:p.Leu222Pro					ATP2B2_ENST00000383800.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000343816.4_Missense_Mutation_p.L222P|ATP2B2_ENST00000360273.2_Missense_Mutation_p.L222P|ATP2B2_ENST00000352432.4_Missense_Mutation_p.L222P	p.L222P			Q01814	AT2B2_HUMAN			7	1240	-			222					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.665T>C	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314875	0.81358	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	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	0.95516	0.8543	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	D	0.96098	0.9067	10	0.87932	D	0	-32.0976	15.7913	0.78367	1.0:0.0:0.0:0.0	.	222;234;222	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	P	222;222;222;222;222;188;109;222	ENSP00000324172:L222P;ENSP00000373311:L222P;ENSP00000380267:L222P;ENSP00000353414:L222P;ENSP00000344677:L222P;ENSP00000414854:L109P	ENSP00000342954:L222P	L	-	2	0	ATP2B2	10417753	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.313000	0.96297	2.124000	0.65301	0.528000	0.53228	CTC		0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		7	165	0	0	0	1	0	7	165					G	10442753	A	G	10442753	3	3	102	1	0	0	0	0	1	0	0	0	1141	304	11	4	3142	4	ATP2B2	3	10442753	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	10075055	10442753	187579677	62	34917											
CTNNB1	1499	broad.mit.edu	37	chr3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaatccattctggtgccactAccacagctccttctctgagt	7	14	2	1	rs121913412		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, 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.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(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.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(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.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(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)		TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	T41A(CCK81_LARGE_INTESTINE)	15		Dom	yes		3	3p22-p21.3	1499	"H, Mis, T"	"catenin (cadherin-associated protein), beta 1"			"E, M, O"	PLAG1		"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"	CTNNB1/PLAG1(60)	681	Substitution - Missense(559)|Deletion - In frame(96)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(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.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(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.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	soft_tissue(387)|liver(158)|large_intestine(61)|endometrium(17)|kidney(11)|stomach(8)|biliary_tract(7)|ovary(6)|small_intestine(4)|lung(4)|prostate(4)|adrenal_gland(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|salivary_gland(1)|pituitary(1)|pancreas(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(121-123)Acc>Gcc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						89	77	81					3																	41266124		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266124A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.121A>G	3.37:g.41266124A>G	ENSP00000344456:p.Thr41Ala					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A	p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	401	+			41		T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.121A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.449381	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	M	0.79258	2.445	0.80722	D	1	P	0.50943	0.94	P	0.52267	0.694	T	0.68561	-0.5376	10	0.87932	D	0	-8.9189	16.3453	0.83126	1.0:0.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	A	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34A;ENSP00000385604:T41A;ENSP00000412219:T41A;ENSP00000379486:T41A;ENSP00000344456:T41A;ENSP00000411226:T34A;ENSP00000379488:T41A;ENSP00000409302:T41A;ENSP00000401599:T41A	ENSP00000344456:T41A	T	+	1	0	CTNNB1	41241128	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.339000	0.96797	2.261000	0.74972	0.533000	0.62120	ACC		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		106	114	0	0	0	1	0	106	114					G	41266124	A	G	41266124	3	3	102	1	0	0	0	0	1	0	0	0	4027	391	14	4	127	4	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	30823371	41266124	156756306	63	34918											
CCR9	10803	broad.mit.edu	37	chr3	45943060	45943060	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaagtgaccatcactgtcctGaccgtctttgtcttgtctca	7	12	4	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:45943060G>C	ENST00000357632.2	+	3	960	c.780G>C	c.(778-780)ctG>ctC	p.L260L	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.L248L|CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000395963.2_Silent_p.L248L	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	260					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)		TCACTGTCCTGACCGTCTTTG	0.478																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(778-780)ctG>ctC		chemokine (C-C motif) receptor 9							217	177	190					3																	45943060		2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943060G>C	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.780G>C	3.37:g.45943060G>C						CCR9_ENST00000355983.2_Silent_p.L248L|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Silent_p.L248L|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR	p.L260L	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	960	+			260					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.780G>C	CCDS2732.1																																																																																				0.478	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			5	386	0	0	0	1	0	5	386					C	45943060	G	C	45943060	2	2	102	1	0	0	0	0	0	0	0	1	2957	1277	45	5		5	CCR9	3	45943060	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4676936	45943060	152079370	64	34919											
SCAP	22937	broad.mit.edu	37	chr3	47455391	47455391	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cacatacaccaggctgagctCactgccaaagttgcagacaa	8	13	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:47455391C>T	ENST00000265565.5	-	23	4205	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	SCAP_ENST00000545718.1_Missense_Mutation_p.E872K|SCAP_ENST00000441517.2_Missense_Mutation_p.E1009K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1265	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGCTGAGCTCACTGCCAAAG	0.617																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(3793-3795)Gag>Aag		SREBF chaperone							148	149	149					3																	47455391		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47455391C>T	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.3793G>A	3.37:g.47455391C>T	ENSP00000265565:p.Glu1265Lys					SCAP_ENST00000545718.1_Missense_Mutation_p.E872K|SCAP_ENST00000441517.2_Missense_Mutation_p.E1009K	p.E1265K	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	23	4205	-			1265			Interaction with SREBF2 (By similarity).		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.3793G>A	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230099	0.95207	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.81078	-1.45;-1.41;0.74	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.995;0.985	P;P	0.57152	0.814;0.718	D	0.84115	0.0403	10	0.62326	D	0.03	-31.3009	18.0736	0.89421	0.0:1.0:0.0:0.0	.	1009;1265	F8W921;Q12770	.;SCAP_HUMAN	K	757;891;1265;1009;872	ENSP00000265565:E1265K;ENSP00000416847:E1009K;ENSP00000438956:E872K	ENSP00000265565:E1265K	E	-	1	0	SCAP	47430395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.427000	0.66483	2.596000	0.87737	0.655000	0.94253	GAG		0.617	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		44	938	0	0	0	1	0	44	938					T	47455391	C	T	47455391	3	4	102	1	0	0	0	0	1	0	0	0	13927	835	29	2	50	2	SCAP	3	47455391	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1512331	47455391	150567039	65	34920											
BSN	8927	broad.mit.edu	37	chr3	49690204	49690204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcatccgcagcacggcccGcaagacccggcgggacaagg	15	16	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:49690204G>A	ENST00000296452.4	+	5	3329	c.3215G>A	c.(3214-3216)cGc>cAc	p.R1072H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1072					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)		AGCACGGCCCGCAAGACCCGG	0.652																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(3214-3216)cGc>cAc		bassoon presynaptic cytomatrix protein							34	39	37					3																	49690204		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690204G>A	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.3215G>A	3.37:g.49690204G>A	ENSP00000296452:p.Arg1072His						p.R1072H	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3329	+			1072					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.3215G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313063	0.60414	.	.	ENSG00000164061	ENST00000296452	T	0.24151	1.87	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.68952	2.095	0.50171	D	0.999851	D	0.89917	1.0	D	0.71656	0.974	T	0.54476	-0.8288	10	0.72032	D	0.01	.	18.0791	0.89437	0.0:0.0:1.0:0.0	.	1072	Q9UPA5	BSN_HUMAN	H	1072	ENSP00000296452:R1072H	ENSP00000296452:R1072H	R	+	2	0	BSN	49665208	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.807000	0.99171	2.357000	0.79964	0.561000	0.74099	CGC		0.652	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		5	193	0	0	0	1	0	5	193					A	49690204	G	A	49690204	3	1	102	1	0	0	0	0	1	0	0	0	1534	1087	38	1	3233	1	BSN	3	49690204	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2234813	49690204	148332226	66	34921											
MST1	327	broad.mit.edu	37	chr3	49723304	49723304	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	16	13	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:49723304C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Silent_p.P413P	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1237-1239)ccG>ccA		macrophage stimulating 1 (hepatocyte growth factor-like)							56	53	54					3																	49723304		2194	4278	6472	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723304C>T	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723304C>T						MST1_ENST00000383728.3_3'UTR	p.P413P	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	10	1600	-			399			Kringle 4.		Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1239G>A	CCDS2801.1																																																																																				0.682	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			6	887	0	0	0	1	0	6	887					T	49723304	C	T	49723304	1	4	102	0	1	0	0	0	0	0	0	0	9931	755	27	1		1	MST1	3	49723304	IGR	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	33100	49723304	148299126	67	34922											
PBRM1	55193	broad.mit.edu	37	chr3	52610715	52610715	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaacccatactttttcaattCttggggaggaaaatatataa	7	6	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:52610715C>T	ENST00000296302.7	-	22	3535		c.e22-1		PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_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.?(6)		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)		TTTTTCAATTCTTGGGGAGGA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		6	Unknown(6)	p.?(6)	kidney(6)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.e21-1		polybromo 1							52	51	52					3																	52610715		2199	4300	6499	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52610715C>T	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.3534-1G>A	3.37:g.52610715C>T						PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Splice_Site				Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	3440	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37			.	.	.	.	.	.	.	.	.	.	C	24.8	4.568252	0.86439	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3907	0.94581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52585755	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.720000	0.84759	2.664000	0.90586	0.591000	0.81541	.		0.343	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	6	168	0	0	0	1	0	6	168					T	52610715	C	T	52610715	5	4	102	1	0	0	0	0	0	0	1	0	11533	927	32	2	1403	2	PBRM1	3	52610715	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2887411	52610715	145411715	68	34923											
MAGI1	9223	broad.mit.edu	37	chr3	65425585	65425585	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgctgctgttg	14	11	0	0	rs374381483		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:65425585C>T	ENST00000497477.2	-	9	1238	c.1239G>A	c.(1237-1239)caG>caA	p.Q413Q	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000330909.8_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q413Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	413	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgttgct	0.537											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(1237-1239)caG>caA		membrane associated guanylate kinase, WW and PDZ domain containing 1							58	58	58					3																	65425585		2194	4275	6469	SO:0001819	synonymous_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65425585C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1239G>A	3.37:g.65425585C>T			OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1084	MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR	p.Q413Q	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	9	1238	-		Lung NSC(201;0.0016)	413			Poly-Gln.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37	c.1239G>A		.	.	.	.	.	.	.	.	.	.	c	3.068	-0.191851	0.06299	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.77	0.926	0.19430	.	.	.	.	.	T	0.42539	0.1207	.	.	.	0.40284	D	0.978435	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	.	1.7198	0.02909	0.14:0.458:0.1372:0.2649	.	.	.	.	N	294	.	.	S	-	2	0	MAGI1	65400625	0.998000	0.40836	0.281000	0.24762	0.028000	0.11728	0.481000	0.22260	0.070000	0.16634	-0.142000	0.14014	AGC		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		6	452	0	0	0	1	0	6	452					T	65425585	C	T	65425585	2	4	102	1	0	0	0	0	0	0	0	1	9231	796	28	2		2	MAGI1	3	65425585	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12814870	65425585	132596845	69	34924											
OR5K4	403278	broad.mit.edu	37	chr3	98073078	98073078	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctatgtggccatatgCcacccactgcagtaccacac	8	16	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:98073078C>T	ENST00000354924.2	+	1	381	c.381C>T	c.(379-381)tgC>tgT	p.C127C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGGCCATATGCCACCCACTGC	0.478																																						ENST00000354924.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(379-381)tgC>tgT		olfactory receptor, family 5, subfamily K, member 4							157	154	155					3																	98073078		2203	4300	6503	SO:0001819	synonymous_variant	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073078C>T		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.381C>T	3.37:g.98073078C>T						RP11-325B23.2_ENST00000508616.1_lincRNA	p.C127C	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN			1	381	+			127						Silent	SNP	ENST00000354924.2	37	c.381C>T	CCDS33802.1																																																																																				0.478	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			7	935	0	0	0	1	0	7	935					T	98073078	C	T	98073078	2	4	102	1	0	0	0	0	0	0	0	1	11211	747	26	2		2	OR5K4	3	98073078	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	32647493	98073078	99949352	70	34925											
CD96	10225	broad.mit.edu	37	chr3	111286413	111286413	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaccatacgatagaaatagaGataaatcagactctggaaat	7	6	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:111286413G>C	ENST00000283285.5	+	3	593	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CD96_ENST00000438817.2_Missense_Mutation_p.E154D|CD96_ENST00000352690.4_Missense_Mutation_p.E154D	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	154					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGAAATAGAGATAAATCAGA	0.368									Opitz Trigonocephaly syndrome																													ENST00000352690.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						c.(460-462)gaG>gaC		CD96 molecule							98	90	93					3																	111286413		2203	4300	6503	SO:0001583	missense	0	Opitz Trigonocephaly syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111286413G>C	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.462G>C	3.37:g.111286413G>C	ENSP00000283285:p.Glu154Asp					CD96_ENST00000283285.5_Missense_Mutation_p.E154D|CD96_ENST00000438817.2_Missense_Mutation_p.E154D	p.E154D	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN			3	702	+			154					Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.462G>C	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628223	0.28978	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.66099	1.65;-0.19;1.65	5.37	2.35	0.29111	Immunoglobulin subtype (1);	0.968819	0.08496	N	0.937108	T	0.42381	0.1200	L	0.27053	0.805	0.20563	N	0.999889	P;P;P;B	0.37781	0.608;0.557;0.608;0.421	B;B;B;B	0.34242	0.115;0.178;0.115;0.086	T	0.21895	-1.0232	10	0.19590	T	0.45	-0.5288	4.485	0.11785	0.2025:0.1855:0.6119:0.0	.	154;154;154;154	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	D	154	ENSP00000342040:E154D;ENSP00000283285:E154D;ENSP00000389801:E154D	ENSP00000283285:E154D	E	+	3	2	CD96	112769103	1.000000	0.71417	0.973000	0.42090	0.941000	0.58515	2.051000	0.41307	0.812000	0.34326	-0.157000	0.13467	GAG		0.368	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			13	252	0	0	0	1	0	13	252					C	111286413	G	C	111286413	3	2	102	1	0	0	0	0	1	0	0	0	3057	933	33	5	472	5	CD96	3	111286413	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13213335	111286413	86736017	71	34926											
C3orf15	89876	broad.mit.edu	37	chr3	119462849	119462849	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttgaaaaccatttggccGgactggaaggaagggcacta	14	7	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:119462849G>A	ENST00000273390.5	+	14	1785	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	406						mitochondrion (GO:0005739)		p.G570*(1)									CCATTTGGCCGGACTGGAAGG	0.453																																						ENST00000273390.5																			1	Substitution - Nonsense(1)	p.G570*(1)	lung(1)								c.(1708-1710)Gga>Aga		MYCBP-associated, testis expressed 1							80	72	75					3																	119462849		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119462849G>A	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.1708G>A	3.37:g.119462849G>A	ENSP00000273390:p.Gly570Arg						p.G570R	NM_033364.3	NP_203528.2					14	1785	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1708G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360748	0.24598	.	.	ENSG00000183833	ENST00000273390	T	0.21734	1.99	5.84	5.84	0.93424	.	0.303432	0.35555	N	0.003139	T	0.16685	0.0401	L	0.46157	1.445	0.25101	N	0.990783	B;B;B	0.30361	0.054;0.277;0.054	B;B;B	0.29077	0.011;0.098;0.019	T	0.24119	-1.0169	10	0.08837	T	0.75	-17.2529	10.5728	0.45211	0.0717:0.1979:0.7304:0.0	.	406;508;570	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	R	570	ENSP00000273390:G570R	ENSP00000273390:G570R	G	+	1	0	C3orf15	120945539	0.748000	0.28294	0.782000	0.31804	0.612000	0.37316	1.930000	0.40124	2.765000	0.95021	0.484000	0.47621	GGA		0.453	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	359	0	0	0	1	0	5	359					A	119462849	G	A	119462849	3	1	102	1	0	0	0	0	1	0	0	0	2216	1117	39	1	1762	1	C3orf15	3	119462849	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8176436	119462849	78559581	72	34927											
GPR156	165829	broad.mit.edu	37	chr3	119962536	119962536	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaaagaaaagtatcagcaGaagtccacagctgagaaaag	10	6	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:119962536G>A	ENST00000464295.1	-	3	629	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	GPR156_ENST00000461057.1_Silent_p.L62L|GPR156_ENST00000315843.3_Silent_p.L62L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	62						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)		AGTATCAGCAGAAGTCCACAG	0.428																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(184-186)Ctg>Ttg		G protein-coupled receptor 156							127	115	119					3																	119962536		2203	4300	6503	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119962536G>A	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.184C>T	3.37:g.119962536G>A						GPR156_ENST00000315843.3_Silent_p.L62L|GPR156_ENST00000461057.1_Silent_p.L62L	p.L62L			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	3	629	-			62					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.184C>T	CCDS2997.1																																																																																				0.428	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		176	347	0	0	0	1	0	176	347					A	119962536	G	A	119962536	2	1	102	1	0	0	0	0	0	0	0	1	6690	933	33	2		2	GPR156	3	119962536	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	499687	119962536	78059894	73	34928											
STXBP5L	9515	broad.mit.edu	37	chr3	120957910	120957910	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agattgtcctccggatttgaTtctagtactgtattctatag	8	7	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:120957910T>C	ENST00000273666.6	+	13	1548	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	426					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)		CCGGATTTGATTCTAGTACTG	0.313																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1276-1278)aTt>aCt		syntaxin binding protein 5-like							53	50	51					3																	120957910		1834	4093	5927	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120957910T>C	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.1277T>C	3.37:g.120957910T>C	ENSP00000273666:p.Ile426Thr					STXBP5L_ENST00000472879.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.I426T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.I426T	p.I426T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	13	1548	+			426					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1277T>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586545	0.46110	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.39229	1.78;1.78;1.58;1.09;1.58;1.79	4.97	4.97	0.65823	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.996	T	0.64381	-0.6421	10	0.59425	D	0.04	-30.5866	14.8108	0.69994	0.0:0.0:0.0:1.0	.	426;426	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	426	ENSP00000273666:I426T;ENSP00000420019:I426T;ENSP00000419627:I426T;ENSP00000420287:I426T;ENSP00000420666:I426T;ENSP00000420167:I426T	ENSP00000273666:I426T	I	+	2	0	STXBP5L	122440600	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	7.827000	0.86722	2.088000	0.63022	0.533000	0.62120	ATT		0.313	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			8	238	0	0	0	1	0	8	238					C	120957910	T	C	120957910	3	2	102	1	0	0	0	0	1	0	0	0	15409	1493	52	4	1323	4	STXBP5L	3	120957910	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	995374	120957910	77064520	74	34929											
ADCY5	111	broad.mit.edu	37	chr3	123010065	123010065	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagaagttggcgatggaggcGaacatgaccgccacacactc	13	11	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123010065G>A	ENST00000462833.1	-	18	4434	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ADCY5_ENST00000309879.5_Silent_p.F724F|ADCY5_ENST00000491190.1_Silent_p.F732F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1074	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.F1074L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGATGGAGGCGAACATGACCG	0.577																																						ENST00000462833.1																			1	Substitution - Missense(1)	p.F1074L(1)	lung(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3220-3222)ttC>ttT		adenylate cyclase 5							101	80	87					3																	123010065		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123010065G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3222C>T	3.37:g.123010065G>A						ADCY5_ENST00000491190.1_Silent_p.F732F|ADCY5_ENST00000309879.5_Silent_p.F724F	p.F1074F	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	4434	-			1074			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.3222C>T	CCDS3022.1																																																																																				0.577	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		81	330	0	0	0	1	0	81	330					A	123010065	G	A	123010065	2	1	102	1	0	0	0	0	0	0	0	1	297	1049	37	1		1	ADCY5	3	123010065	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2052155	123010065	75012365	75	34930											
ADCY5	111	broad.mit.edu	37	chr3	123021988	123021988	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gacggccgactccgccacgtGacacgcgttgacctggctcg	13	16	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:123021988G>A	ENST00000462833.1	-	14	3850	c.2638C>T	c.(2638-2640)Cac>Tac	p.H880Y	ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y|ADCY5_ENST00000491190.1_Missense_Mutation_p.H513Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	880					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCCGCCACGTGACACGCGTTG	0.642																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2638-2640)Cac>Tac		adenylate cyclase 5							57	51	53					3																	123021988		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123021988G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2638C>T	3.37:g.123021988G>A	ENSP00000419361:p.His880Tyr					ADCY5_ENST00000491190.1_Missense_Mutation_p.H513Y|ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y	p.H880Y	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	14	3850	-			880					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2638C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.819575	0.32145	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.04	5.04	0.67666	.	0.066645	0.64402	D	0.000016	T	0.44074	0.1276	M	0.61703	1.905	0.48135	D	0.999599	B;B	0.14438	0.01;0.001	B;B	0.10450	0.005;0.001	T	0.47045	-0.9147	10	0.02654	T	1	.	18.5817	0.91174	0.0:0.0:1.0:0.0	.	880;513	O95622;B3KWA8	ADCY5_HUMAN;.	Y	880;513;530;439	ENSP00000419361:H880Y;ENSP00000418537:H513Y;ENSP00000308685:H530Y;ENSP00000420082:H439Y	ENSP00000308685:H530Y	H	-	1	0	ADCY5	124504678	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	7.719000	0.84751	2.619000	0.88677	0.561000	0.74099	CAC		0.642	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		6	276	0	0	0	1	0	6	276					A	123021988	G	A	123021988	3	1	102	1	0	0	0	0	1	0	0	0	297	1290	45	2	1179	2	ADCY5	3	123021988	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	11923	123021988	75000442	76	34931											
KALRN	8997	broad.mit.edu	37	chr3	124103801	124103801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgacacctggaggtgcGcatccaagacttcgtgcgca	12	13	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:124103801G>A	ENST00000240874.3	+	11	2031	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	KALRN_ENST00000360013.3_Missense_Mutation_p.R625H|KALRN_ENST00000460856.1_Missense_Mutation_p.R625H	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	625					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						CTGGAGGTGCGCATCCAAGAC	0.572																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(1873-1875)cGc>cAc		kalirin, RhoGEF kinase							104	86	92					3																	124103801		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124103801G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1874G>A	3.37:g.124103801G>A	ENSP00000240874:p.Arg625His					KALRN_ENST00000460856.1_Missense_Mutation_p.R625H|KALRN_ENST00000240874.3_Missense_Mutation_p.R625H	p.R625H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			11	2001	+			625					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1874G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.71|19.71	3.879057|3.879057	0.72294|0.72294	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.05	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.58323|0.58323	0.2114|0.2114	L|L	0.45422|0.45422	1.42|1.42	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.976;1.0;0.97	.|P;D;P	.|0.85130	.|0.818;0.997;0.723	T|T	0.52895|0.52895	-0.8514|-0.8514	5|10	.|0.37606	.|T	.|0.19	.|.	18.9768|18.9768	0.92740|0.92740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|625;625;625	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|H	603|625;625;625;101	.|ENSP00000418611:R625H;ENSP00000240874:R625H;ENSP00000353109:R625H;ENSP00000402950:R101H	.|ENSP00000240874:R625H	A|R	+|+	1|2	0|0	KALRN|KALRN	125586491|125586491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.597000|9.597000	0.98273|0.98273	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		5	456	0	0	0	1	0	5	456					A	124103801	G	A	124103801	3	1	102	1	0	0	0	0	1	0	0	0	8005	1087	38	1	1916	1	KALRN	3	124103801	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1081813	124103801	73918629	77	34932											
UROC1	131669	broad.mit.edu	37	chr3	126220105	126220106	+	Frame_Shift_Ins	INS	-	-	T													aaccaaggctgagcacctccINSttttttttccttgcttccct					rs569784894		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:126220105_126220106insT	ENST00000290868.2	-	10	973_974	c.920_921insA	c.(919-921)aagfs	p.K307fs	UROC1_ENST00000383579.3_Frame_Shift_Ins_p.K367fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	307					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)		TGAGCACCTCCTTTTTTTTCCT	0.584																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(919-921)agafs		urocanate hydratase 1																																				SO:0001589	frameshift_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126220105_126220106insT	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.921dupA	3.37:g.126220113_126220113dupT	ENSP00000290868:p.Lys307fs					UROC1_ENST00000383579.3_Frame_Shift_Ins_p.R367fs	p.R307fs	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	10	973_974	-			307					E9PE13|Q14C64|Q68CJ7	Frame_Shift_Ins	INS	ENST00000290868.2	37	c.920_921insA	CCDS3038.1																																																																																				0.584	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		19	1227						19	1227	---	---	---	---	T	126220106	-	T	126220105	7	5	102	1	0	1	1	0	0	0	0	0	17082	680	24	0	1153	0	UROC1	3	126220105	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	2116304	126220105	71802325	78	34933											
COPG	22820	broad.mit.edu	37	chr3	128969564	128969564	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaccttgagaagagtgCggtactccaggaggcaagtg	14	10	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:128969564C>T	ENST00000314797.6	+	2	181	c.77C>T	c.(76-78)gCg>gTg	p.A26V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	26					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)										GAGAAGAGTGCGGTACTCCAG	0.468																																						ENST00000314797.6																			0											c.(76-78)gCg>gTg		coatomer protein complex, subunit gamma 1							127	109	115					3																	128969564		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128969564C>T	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.77C>T	3.37:g.128969564C>T	ENSP00000325002:p.Ala26Val						p.A26V	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			2	181	+			26					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.77C>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834070	0.50951	.	.	ENSG00000181789	ENST00000314797	T	0.25250	1.81	5.03	5.03	0.67393	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.42245	0.1194	L	0.41573	1.285	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	T	0.24190	-1.0167	10	0.54805	T	0.06	-22.3002	15.8688	0.79091	0.0:1.0:0.0:0.0	.	26	Q9Y678	COPG_HUMAN	V	26	ENSP00000325002:A26V	ENSP00000325002:A26V	A	+	2	0	COPG	130452254	1.000000	0.71417	0.954000	0.39281	0.186000	0.23388	7.710000	0.84655	2.336000	0.79503	0.655000	0.94253	GCG		0.468	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		5	357	0	0	0	1	0	5	357					T	128969564	C	T	128969564	3	4	102	1	0	0	0	0	1	0	0	0	3740	768	27	1	83	1	COPG	3	128969564	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2749459	128969564	69052866	79	34934											
PLXND1	23129	broad.mit.edu	37	chr3	129289944	129289944	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccacttctccctcttggccGtagagaactgtgggttgggg	13	11	2	1	rs528635984		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:129289944G>A	ENST00000324093.4	-	18	3717	c.3539C>T	c.(3538-3540)aCg>aTg	p.T1180M	PLXND1_ENST00000393239.1_Missense_Mutation_p.T1180M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1180					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCTCTTGGCCGTAGAGAACTG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		17056	0.0		0.0	False		,,,				2504	0.001				Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3538-3540)aCg>aTg		plexin D1							137	150	146					3																	129289944		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129289944G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3539C>T	3.37:g.129289944G>A	ENSP00000317128:p.Thr1180Met					PLXND1_ENST00000324093.4_Missense_Mutation_p.T1180M	p.T1180M			Q9Y4D7	PLXD1_HUMAN			18	3717	-			1180					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.3539C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859213	0.71834	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35605	1.35;1.3	5.08	5.08	0.68730	.	0.338132	0.30830	N	0.008800	T	0.56031	0.1958	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.56288	-0.8004	10	0.49607	T	0.09	.	18.4653	0.90752	0.0:0.0:1.0:0.0	.	1180	Q9Y4D7	PLXD1_HUMAN	M	1180	ENSP00000317128:T1180M;ENSP00000376931:T1180M	ENSP00000317128:T1180M	T	-	2	0	PLXND1	130772634	1.000000	0.71417	0.996000	0.52242	0.394000	0.30568	9.121000	0.94375	2.366000	0.80165	0.491000	0.48974	ACG		0.657	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		7	1348	0	0	0	1	0	7	1348					A	129289944	G	A	129289944	3	1	102	1	0	0	0	0	1	0	0	0	12169	1145	40	1	2314	1	PLXND1	3	129289944	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	320380	129289944	68732486	80	34935											
XRN1	54464	broad.mit.edu	37	chr3	142142485	142142485	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttgttaatccaagcataatCtgttgaaaaatgattaagaa	6	5	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:142142485C>T	ENST00000264951.4	-	6	745		c.e6-1		XRN1_ENST00000544157.1_Splice_Site|XRN1_ENST00000392981.2_Splice_Site|XRN1_ENST00000463916.1_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						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						CAAGCATAATCTGTTGAAAAA	0.279																																						ENST00000264951.4																			0				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						c.e6-1		5'-3' exoribonuclease 1							81	77	78					3																	142142485		2200	4300	6500	SO:0001630	splice_region_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142142485C>T	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.628-1G>A	3.37:g.142142485C>T						XRN1_ENST00000544157.1_Splice_Site|XRN1_ENST00000463916.1_Splice_Site|XRN1_ENST00000392981.2_Splice_Site		NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			6	745	-								Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Splice_Site	SNP	ENST00000264951.4	37		CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363755	0.82353	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000477237	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4475	0.94854	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRN1	143625175	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.568000	0.82369	2.609000	0.88269	0.460000	0.39030	.		0.279	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	Intron	54	215	0	0	0	1	0	54	215					T	142142485	C	T	142142485	5	4	102	1	0	0	0	0	0	0	1	0	17513	927	32	2	4641	2	XRN1	3	142142485	Splice_Site	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12852541	142142485	55879945	81	34936											
SEC62	7095	broad.mit.edu	37	chr3	169706036	169706036	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgttccagtgattgcaGtaatagcggccaccctcttc	8	12	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:169706036G>A	ENST00000337002.4	+	7	677	c.619G>A	c.(619-621)Gta>Ata	p.V207I	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Missense_Mutation_p.V207I	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	207					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						AGTGATTGCAGTAATAGCGGC	0.418																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(619-621)Gta>Ata		SEC62 homolog (S. cerevisiae)							136	128	131					3																	169706036		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169706036G>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.619G>A	3.37:g.169706036G>A	ENSP00000337688:p.Val207Ile					SEC62_ENST00000480708.1_Missense_Mutation_p.V207I|SEC62_ENST00000470355.1_3'UTR	p.V207I	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			7	677	+			207					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.619G>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785306	0.49997	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.34521	1.04	0.80722	D	1	B	0.28850	0.225	B	0.34824	0.19	T	0.49826	-0.8898	9	0.07325	T	0.83	-13.5952	20.8794	0.99867	0.0:0.0:1.0:0.0	.	207	Q99442	SEC62_HUMAN	I	207	.	ENSP00000337688:V207I	V	+	1	0	SEC62	171188730	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	GTA		0.418	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			5	611	0	0	0	1	0	5	611					A	169706036	G	A	169706036	3	1	102	1	0	0	0	0	1	0	0	0	14054	1029	36	2	645	2	SEC62	3	169706036	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	27563551	169706036	28316394	82	34937											
ECT2	1894	broad.mit.edu	37	chr3	172480552	172480552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagagaatatagtaaaagatCttccctttgaaccttcaaag	6	7	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:172480552C>A	ENST00000392692.3	+	10	1137	c.961C>A	c.(961-963)Ctt>Att	p.L321I	ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000417960.1_Missense_Mutation_p.L289I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I|ECT2_ENST00000540509.1_Missense_Mutation_p.L321I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	321	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AGTAAAAGATCTTCCCTTTGA	0.333																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(865-867)Ctt>Att		epithelial cell transforming sequence 2 oncogene							97	99	98					3																	172480552		2203	4299	6502	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172480552C>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.961C>A	3.37:g.172480552C>A	ENSP00000376457:p.Leu321Ile					ECT2_ENST00000540509.1_Missense_Mutation_p.L321I|ECT2_ENST00000392692.3_Missense_Mutation_p.L321I|ECT2_ENST00000232458.5_Missense_Mutation_p.L290I|ECT2_ENST00000441497.2_Missense_Mutation_p.L290I|ECT2_ENST00000427830.1_Missense_Mutation_p.L290I	p.L289I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		10	1342	+	Ovarian(172;0.00197)|Breast(254;0.158)		290			BRCT 2.		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.865C>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769443	0.31320	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.84	3.99	0.46301	BRCT (2);	0.123450	0.53938	D	0.000041	T	0.71600	0.3359	L	0.43701	1.375	0.52099	D	0.999947	B;B;B;B	0.16166	0.0;0.016;0.008;0.001	B;B;B;B	0.19666	0.005;0.026;0.017;0.012	T	0.63184	-0.6694	10	0.31617	T	0.26	-13.9281	8.7265	0.34471	0.3898:0.5435:0.0:0.0666	.	321;321;290;289	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	I	290;321;290;289;290;321	ENSP00000232458:L290I;ENSP00000376457:L321I;ENSP00000401910:L290I;ENSP00000415876:L289I;ENSP00000412259:L290I;ENSP00000443160:L321I	ENSP00000232458:L290I	L	+	1	0	ECT2	173963246	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.884000	0.48562	0.744000	0.32741	-0.282000	0.10007	CTT		0.333	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		102	213	1	0	1.62402e-62	1	1.79412e-62	102	213					A	172480552	C	A	172480552	3	1	102	1	0	0	0	0	1	0	0	0	4917	913	32	3	898	3	ECT2	3	172480552	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2774516	172480552	25541878	83	34938											
ATP13A5	344905	broad.mit.edu	37	chr3	193042744	193042744	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtggcagctggccatggccGcacacagtgggctccatggc	15	13	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:193042744G>A	ENST00000342358.4	-	14	1700	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	528						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)		GGCCATGGCCGCACACAGTGG	0.532																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1582-1584)gCg>gTg		ATPase type 13A5							81	87	85					3																	193042744		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193042744G>A	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.1583C>T	3.37:g.193042744G>A	ENSP00000341942:p.Ala528Val						p.A528V	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	14	1700	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		528					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1583C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849609	0.71603	.	.	ENSG00000187527	ENST00000342358	T	0.69926	-0.44	5.67	3.84	0.44239	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.087753	0.49305	D	0.000147	T	0.59459	0.2195	L	0.47078	1.49	0.37991	D	0.933923	P	0.34757	0.467	B	0.41764	0.366	T	0.56475	-0.7973	10	0.17832	T	0.49	-5.8685	8.0312	0.30465	0.0947:0.3125:0.5928:0.0	.	528	Q4VNC0	AT135_HUMAN	V	528	ENSP00000341942:A528V	ENSP00000341942:A528V	A	-	2	0	ATP13A5	194525438	0.813000	0.29090	0.880000	0.34516	0.751000	0.42716	1.376000	0.34306	1.389000	0.46526	0.655000	0.94253	GCG		0.532	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		8	728	0	0	0	1	0	8	728					A	193042744	G	A	193042744	3	1	102	1	0	0	0	0	1	0	0	0	1128	1087	38	1	2139	1	ATP13A5	3	193042744	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	20562192	193042744	4979686	84	34939											
FBXO45	200933	broad.mit.edu	37	chr3	196304578	196304578	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggcattgctgggcagTgatgaccagagctggggctg	17	7	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr3:196304578T>C	ENST00000311630.6	+	2	870	c.573T>C	c.(571-573)agT>agC	p.S191S	FBXO45_ENST00000440469.1_Silent_p.S12S	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	191	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)		TGCTGGGCAGTGATGACCAGA	0.517																																						ENST00000311630.6																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(571-573)agT>agC		F-box protein 45							55	56	56					3																	196304578		1969	4162	6131	SO:0001819	synonymous_variant	200933				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding	g.chr3:196304578T>C	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.573T>C	3.37:g.196304578T>C						FBXO45_ENST00000440469.1_Silent_p.S12S	p.S191S	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	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)	2	870	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		191			B30.2/SPRY.		A6NF90|D3DXB5	Silent	SNP	ENST00000311630.6	37	c.573T>C	CCDS46985.1																																																																																				0.517	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340687.2			54	114	0	0	0	1	0	54	114					C	196304578	T	C	196304578	2	2	102	1	0	0	0	0	0	0	0	1	5779	1693	59	4		4	FBXO45	3	196304578	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	3261834	196304578	1717852	85	34940											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107248	6107248	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgatgcggtgcacctcGtcttggtgcgcctggtaggc	15	12	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:6107248G>A	ENST00000282924.5	-	3	1061	c.576C>T	c.(574-576)gaC>gaT	p.D192D	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000409021.3_Silent_p.D192D|JAKMIP1_ENST00000410077.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	192	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)			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						GGTGCACCTCGTCTTGGTGCG	0.701																																						ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(574-576)gaC>gaT		janus kinase and microtubule interacting protein 1							24	22	23					4																	6107248		2201	4298	6499	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107248G>A	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.576C>T	4.37:g.6107248G>A						JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.D192D|JAKMIP1_ENST00000282924.5_Silent_p.D192D|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron	p.D192D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			3	1025	-			192			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.576C>T	CCDS3385.1																																																																																				0.701	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		33	57	0	0	0	1	0	33	57					A	6107248	G	A	6107248	2	1	102	1	0	0	0	0	0	0	0	1	7970	1136	40	1		1	JAKMIP1	4	6107248	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		6107248	185047028	86	34941											
PCDH7	5099	broad.mit.edu	37	chr4	30724130	30724130	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggctgctgcgccttgacgaGacgtccggctggctcagcgt	15	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:30724130G>C	ENST00000361762.2	+	1	2094	c.1086G>C	c.(1084-1086)gaG>gaC	p.E362D	PCDH7_ENST00000543491.1_Missense_Mutation_p.E362D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	362	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTTGACGAGACGTCCGGCT	0.692																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(1084-1086)gaG>gaC		protocadherin 7							27	31	30					4																	30724130		2186	4267	6453	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724130G>C	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.1086G>C	4.37:g.30724130G>C	ENSP00000355243:p.Glu362Asp					PCDH7_ENST00000543491.1_Missense_Mutation_p.E362D	p.E362D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	2094	+			362			Cadherin 3.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1086G>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.56|11.56	1.676129|1.676129	0.29783|0.29783	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.53640	.|0.61;0.61	5.69|5.69	2.56|2.56	0.30785|0.30785	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.51160|0.51160	0.1658|0.1658	L|L	0.48935|0.48935	1.535|1.535	0.45607|0.45607	D|D	0.998546|0.998546	.|P;P;P	.|0.45212	.|0.823;0.823;0.853	.|P;P;P	.|0.53102	.|0.595;0.595;0.718	T|T	0.43458|0.43458	-0.9390|-0.9390	5|9	.|0.35671	.|T	.|0.21	.|.	11.5739|11.5739	0.50850|0.50850	0.2318:0.0:0.7682:0.0|0.2318:0.0:0.7682:0.0	.|.	.|362;315;362	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	H|D	52|362;362;315	.|ENSP00000355243:E362D;ENSP00000441802:E362D	.|ENSP00000330302:E315D	D|E	+|+	1|3	0|2	PCDH7|PCDH7	30333228|30333228	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.003000|0.003000	0.03518|0.03518	3.394000|3.394000	0.52551|0.52551	0.742000|0.742000	0.32697|0.32697	-0.136000|-0.136000	0.14681|0.14681	GAC|GAG		0.692	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		7	324	0	0	0	1	0	7	324					C	30724130	G	C	30724130	3	2	102	1	0	0	0	0	1	0	0	0	11558	933	33	5	1088	5	PCDH7	4	30724130	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	24616882	30724130	160430146	87	34942											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205309	73205309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagtacctcgatattgtaatCgttttctcccgcgtgtctgc	8	12	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:73205309C>T	ENST00000286657.4	-	5	799	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	255					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)			ATATTGTAATCGTTTTCTCCC	0.498																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(763-765)Gat>Aat		ADAM metallopeptidase with thrombospondin type 1 motif, 3							286	273	278					4																	73205309		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205309C>T	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.763G>A	4.37:g.73205309C>T	ENSP00000286657:p.Asp255Asn						p.D255N	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	799	-			255					A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.763G>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109068	0.56398	.	.	ENSG00000156140	ENST00000286657	T	0.61274	0.12	5.31	5.31	0.75309	Metallopeptidase, catalytic domain (1);	0.059999	0.64402	D	0.000005	T	0.59128	0.2171	M	0.68593	2.085	0.80722	D	1	B	0.30542	0.284	B	0.28232	0.087	T	0.59836	-0.7379	10	0.48119	T	0.1	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	255	O15072	ATS3_HUMAN	N	255	ENSP00000286657:D255N	ENSP00000286657:D255N	D	-	1	0	ADAMTS3	73424173	0.998000	0.40836	0.992000	0.48379	0.181000	0.23173	3.879000	0.56138	2.763000	0.94921	0.563000	0.77884	GAT		0.498	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			31	1103	0	0	0	1	0	31	1103					T	73205309	C	T	73205309	3	4	102	1	0	0	0	0	1	0	0	0	267	884	31	1	2926	1	ADAMTS3	4	73205309	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	42481179	73205309	117948967	88	34943											
BMP2K	55589	broad.mit.edu	37	chr4	79792103	79792103	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcaacagcaacagcagca	11	14	0	0	rs534035187	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:79792103G>A	ENST00000335016.5	+	11	1564	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BMP2K_ENST00000502871.1_Silent_p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	466	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcagcaacagc	0.547													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		11572	0.0		0.0	False		,,,				2504	0.0					ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1396-1398)caG>caA		BMP2 inducible kinase							27	31	30					4																	79792103		2186	4237	6423	SO:0001819	synonymous_variant	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792103G>A	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1398G>A	4.37:g.79792103G>A						BMP2K_ENST00000502871.1_Silent_p.Q466Q	p.Q466Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1564	+			466			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	c.1398G>A	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.540072	0.04053	.	.	ENSG00000138756	ENST00000502613	.	.	.	3.26	0.0695	0.14374	.	.	.	.	.	T	0.52533	0.1740	.	.	.	0.45272	D	0.998274	.	.	.	.	.	.	T	0.34900	-0.9810	4	.	.	.	-8.7742	6.241	0.20791	0.3659:0.1256:0.5085:0.0	.	.	.	.	T	159	.	.	A	+	1	0	BMP2K	80011127	1.000000	0.71417	0.031000	0.17742	0.025000	0.11179	0.486000	0.22340	-0.813000	0.04357	-1.509000	0.00949	GCA		0.547	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		5	246	0	0	0	1	0	5	246					A	79792103	G	A	79792103	2	1	102	1	0	0	0	0	0	0	0	1	1462	962	34	2		2	BMP2K	4	79792103	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	6586794	79792103	111362173	89	34944											
TACR3	6870	broad.mit.edu	37	chr4	104640521	104640521	+	Silent	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aggatgatccagatgacgatGagatttcccaaaactgccac	9	10	0	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:104640521G>C	ENST00000304883.2	-	1	452	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	104					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGATGACGATGAGATTTCCCA	0.592																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(310-312)ctC>ctG		tachykinin receptor 3							114	104	107					4																	104640521		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640521G>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.312C>G	4.37:g.104640521G>C							p.L104L	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	452	-		Hepatocellular(203;0.217)	104					Q0P510	Silent	SNP	ENST00000304883.2	37	c.312C>G	CCDS3664.1																																																																																				0.592	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		24	409	0	0	0	1	0	24	409					C	104640521	G	C	104640521	2	2	102	1	0	0	0	0	0	0	0	1	15559	1277	45	5		5	TACR3	4	104640521	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	24848418	104640521	86513755	90	34945											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				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)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		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.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		9	488						9	488	---	---	---	---	-	106863684	CCA	-	106863682	7	5	102	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-LB-A7SX-01A-11D-A33T-08	2223161	106863682	84290594	91	34946											
PAPSS1	9061	broad.mit.edu	37	chr4	108641321	108641321	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgactttcttgcacaggctCccggggatctccatgaccgc	10	14	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108641321C>T	ENST00000265174.4	-	1	287	c.15G>A	c.(13-15)ggG>ggA	p.G5G	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	5					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|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)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TGCACAGGCTCCCGGGGATCT	0.677																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(13-15)ggG>ggA		3'-phosphoadenosine 5'-phosphosulfate synthase 1							63	58	60					4																	108641321		2203	4300	6503	SO:0001819	synonymous_variant	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108641321C>T	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.15G>A	4.37:g.108641321C>T						PAPSS1_ENST00000511304.1_5'UTR	p.G5G	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	1	287	-		Hepatocellular(203;0.217)	5					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Silent	SNP	ENST00000265174.4	37	c.15G>A	CCDS3676.1																																																																																				0.677	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			115	320	0	0	0	1	0	115	320					T	108641321	C	T	108641321	2	4	102	1	0	0	0	0	0	0	0	1	11476	842	30	2		2	PAPSS1	4	108641321	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1777639	108641321	82512955	92	34947											
HADH	3033	broad.mit.edu	37	chr4	108940775	108940775	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagacaagaccgattcGctggcctccatttcttcaac	6	16	2	2	rs370306695		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:108940775G>A	ENST00000309522.3	+	4	648	c.499G>A	c.(499-501)Gct>Act	p.A167T	HADH_ENST00000454409.2_Missense_Mutation_p.A171T|HADH_ENST00000403312.1_Missense_Mutation_p.A226T|HADH_ENST00000505878.1_Missense_Mutation_p.A171T|HADH_ENST00000603302.1_Missense_Mutation_p.A167T	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	495					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)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		AGACCGATTCGCTGGCCTCCA	0.498																																						ENST00000505878.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(511-513)Gct>Act		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						165	153	157					4																	108940775		2203	4300	6503	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108940775G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.499G>A	4.37:g.108940775G>A	ENSP00000312288:p.Ala167Thr					HADH_ENST00000603302.1_Missense_Mutation_p.A167T|HADH_ENST00000454409.2_Missense_Mutation_p.A171T|HADH_ENST00000403312.1_Missense_Mutation_p.A226T|HADH_ENST00000309522.3_Missense_Mutation_p.A167T	p.A171T			Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	5	784	+		Hepatocellular(203;0.217)	167					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000309522.3	37	c.511G>A	CCDS3678.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731123	0.89390	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.76968	-1.06;-1.06;-1.06	5.37	4.53	0.55603	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.153383	0.56097	D	0.000023	D	0.84370	0.5457	M	0.84846	2.72	0.38132	D	0.938196	P;D;P	0.56035	0.941;0.974;0.953	B;P;P	0.50708	0.419;0.648;0.555	D	0.87171	0.2221	10	0.42905	T	0.14	-16.0779	15.4449	0.75223	0.0:0.0:0.8599:0.1401	.	226;171;167	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	T	167;167;171;171	ENSP00000312288:A167T;ENSP00000425952:A171T;ENSP00000395167:A171T	ENSP00000312288:A167T	A	+	1	0	HADH	109160224	1.000000	0.71417	0.073000	0.20177	0.941000	0.58515	6.776000	0.75023	1.244000	0.43870	0.655000	0.94253	GCT		0.498	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		270	480	0	0	0	1	0	270	480					A	108940775	G	A	108940775	3	1	102	1	0	0	0	0	1	0	0	0	6972	1087	38	1	513	1	HADH	4	108940775	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	299454	108940775	82213501	93	34948											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	200	0	0	0	1	0	4	200					T	140811108	C	T	140811108	2	4	102	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	31870333	140811108	50343168	94	34949											
OTUD4	54726	broad.mit.edu	37	chr4	146073752	146073752	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaattccttgaacatcTgcattcaaaaattttccatt	4	8	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146073752T>A	ENST00000447906.2	-	11	1096	c.909A>T	c.(907-909)gcA>gcT	p.A303A	OTUD4_ENST00000455611.2_5'UTR|Y_RNA_ENST00000459374.1_RNA|OTUD4_ENST00000454497.2_Silent_p.A238A			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	303					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)					CTTGAACATCTGCATTCAAAA	0.363																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(712-714)gcA>gcT		OTU domain containing 4							74	71	72					4																	146073752		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146073752T>A		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.909A>T	4.37:g.146073752T>A						OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.A303A	p.A238A	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			11	851	-	all_hematologic(180;0.151)		302					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.714A>T																																																																																					0.363	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		48	189	0	0	0	1	0	48	189					A	146073752	T	A	146073752	2	1	102	1	0	0	0	0	0	0	0	1	11356	1567	55	5		5	OTUD4	4	146073752	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	5262644	146073752	45080524	95	34950											
ZNF827	152485	broad.mit.edu	37	chr4	146770591	146770591	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagggttcggttttctctcGcccgattaaagtgctgtagc	11	9	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:146770591G>A	ENST00000508784.1	-	6	2331	c.2104C>T	c.(2104-2106)Cga>Tga	p.R702*	ZNF827_ENST00000513320.1_Nonsense_Mutation_p.R352*|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R702*			Q17R98	ZN827_HUMAN	zinc finger protein 827	702					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R702*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GTTTTCTCTCGCCCGATTAAA	0.502																																						ENST00000508784.1																			2	Substitution - Nonsense(2)	p.R702*(2)	large_intestine(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2104-2106)Cga>Tga		zinc finger protein 827							130	135	133					4																	146770591		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146770591G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2104C>T	4.37:g.146770591G>A	ENSP00000421863:p.Arg702*					ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R702*|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Nonsense_Mutation_p.R352*	p.R702*			Q17R98	ZN827_HUMAN			6	2331	-	all_hematologic(180;0.151)		702					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.2104C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.450699	0.98817	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	.	.	.	5.7	4.86	0.63082	.	0.167131	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-6.9996	14.7328	0.69393	0.0695:0.0:0.9305:0.0	.	.	.	.	X	702;352;702;701;352	.	ENSP00000281318:R701X	R	-	1	2	ZNF827	146990041	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.524000	0.45589	1.410000	0.46936	0.655000	0.94253	CGA		0.502	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	602	0	0	0	1	0	8	602					A	146770591	G	A	146770591	4	1	102	1	0	0	0	0	0	1	0	0	18233	1095	38	1	1161	1	ZNF827	4	146770591	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	696839	146770591	44383685	96	34951											
FBXW7	55294	broad.mit.edu	37	chr4	153253860	153253861	+	Frame_Shift_Del	DEL	AT	AT	-													ggttccaggaatgaaagcacAtagagtgccaactaagaaaa							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:153253860_153253861delAT	ENST00000281708.4	-	6	2101_2102	c.872_873delAT	c.(871-873)tatfs	p.Y291fs	FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	291	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)				ATGAAAGCACATAGAGTGCCAA	0.347			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"Mis, N, D, F"	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"			"E, L"			"colorectal, endometrial, T-ALL"		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(871-873)tfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153253860_153253861delAT	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.872_873delAT	4.37:g.153253860_153253861delAT	ENSP00000281708:p.Tyr291fs					FBXW7_ENST00000603548.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.Y173fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.Y291fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.Y211fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.Y115fs	p.Y291fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			6	2101_2102	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	291			F-box.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	37	c.872_873delAT	CCDS3777.1																																																																																				0.347	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			73	132						73	132	---	---	---	---	-	153253861	AT	-	153253860	7	5	102	1	0	1	0	1	0	0	0	0	5794	224	8	0	1278	0	FBXW7	4	153253860	Frame_Shift_Del	DEL	AT	TCGA-LB-A7SX-01A-11D-A33T-08	6483269	153253860	37900416	97	34952											
PDGFC	56034	broad.mit.edu	37	chr4	157689125	157689125	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatcttacctcctctgttaGaaggttcagatccaccacta	5	12	3	2	rs201389930		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr4:157689125G>A	ENST00000502773.1	-	5	1211	c.721C>T	c.(721-723)Cta>Tta	p.L241L	PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Silent_p.L241L|PDGFC_ENST00000542208.1_Silent_p.L86L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	241					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)		TCCTCTGTTAGAAGGTTCAGA	0.383																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(721-723)Cta>Tta		platelet derived growth factor C							143	134	137					4																	157689125		2203	4300	6503	SO:0001819	synonymous_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689125G>A	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.721C>T	4.37:g.157689125G>A						PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Silent_p.L86L|PDGFC_ENST00000541126.1_Silent_p.L78L|PDGFC_ENST00000422544.2_Silent_p.L241L	p.L241L	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1211	-	all_hematologic(180;0.24)	Renal(120;0.0458)	241					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	c.721C>T	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841530	0.16963	.	.	ENSG00000145431	ENST00000543489	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	T	0.74703	0.3751	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73830	-0.3859	5	0.40728	T	0.16	-7.46	18.7512	0.91816	0.0:0.0:1.0:0.0	.	.	.	.	F	155	.	ENSP00000446162:S155F	S	-	2	0	PDGFC	157908575	1.000000	0.71417	0.747000	0.31113	0.955000	0.61496	5.667000	0.68067	2.434000	0.82447	0.655000	0.94253	TCT		0.383	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			28	681	0	0	0	1	0	28	681					A	157689125	G	A	157689125	2	1	102	1	0	0	0	0	0	0	0	1	11701	933	33	2		2	PDGFC	4	157689125	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4435265	157689125	33465151	98	34953											
ZDHHC11	79844	broad.mit.edu	37	chr5	837564	837564	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcttctttgcggttattaatGagatactcaaaggtggtcat	9	6	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:837564G>T	ENST00000283441.8	-	6	1199	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ZDHHC11_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	272						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTTATTAATGAGATACTCAA	0.493																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(814-816)ctC>ctA		zinc finger, DHHC-type containing 11							171	199	189					5																	837564		2203	4300	6503	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837564G>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.816C>A	5.37:g.837564G>T						ZDHHC11_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	p.L272L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		6	1199	-			272					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.816C>A	CCDS3857.1																																																																																				0.493	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		16	941	1	0	1.75199e-13	1	1.88839e-13	16	941					T	837564	G	T	837564	2	4	102	1	0	0	0	0	0	0	0	1	17654	1277	45	3		3	ZDHHC11	5	837564	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		837564	180077696	99	34954											
ADAMTS16	170690	broad.mit.edu	37	chr5	5182355	5182355	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agctggcacatcaacccctgCacagcagcgaccttcgcctg	9	17	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:5182355C>A	ENST00000274181.7	+	4	838	c.700C>A	c.(700-702)Cac>Aac	p.H234N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H234N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	234					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						TCAACCCCTGCACAGCAGCGA	0.532																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(700-702)Cac>Aac		ADAM metallopeptidase with thrombospondin type 1 motif, 16							68	73	71					5																	5182355		2091	4232	6323	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182355C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.700C>A	5.37:g.5182355C>A	ENSP00000274181:p.His234Asn					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.H234N	p.H234N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			4	838	+			234					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.700C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	8.922	0.961376	0.18583	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61392	0.19;0.11	5.04	-2.03	0.07365	.	0.772006	0.11949	N	0.513896	T	0.41627	0.1167	L	0.45581	1.43	0.09310	N	1	B;B;B	0.17038	0.011;0.004;0.02	B;B;B	0.17098	0.011;0.009;0.017	T	0.29488	-1.0010	10	0.15952	T	0.53	.	5.9596	0.19293	0.3613:0.5011:0.0:0.1375	.	234;234;234	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	N	234	ENSP00000274181:H234N;ENSP00000421631:H234N	ENSP00000274181:H234N	H	+	1	0	ADAMTS16	5235355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.111000	0.15458	-0.120000	0.11809	-0.188000	0.12872	CAC		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		159	300	1	0	1.09846e-41	1	1.20153e-41	159	300					A	5182355	C	A	5182355	3	1	102	1	0	0	0	0	1	0	0	0	261	710	25	3	714	3	ADAMTS16	5	5182355	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4344791	5182355	175732905	100	34955											
PAPD7	11044	broad.mit.edu	37	chr5	6748612	6748612	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcctatggcgccatgCaggtgaagcaggtcttcgat	14	10	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:6748612C>T	ENST00000230859.6	+	8	874	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	479					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGCGCCATGCAGGTGAAGCA	0.542																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(745-747)Cag>Tag		PAP associated domain containing 7							317	289	298					5																	6748612		2203	4300	6503	SO:0001587	stop_gained	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6748612C>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.745C>T	5.37:g.6748612C>T	ENSP00000230859:p.Gln249*						p.Q249*	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			8	874	+			249					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Nonsense_Mutation	SNP	ENST00000230859.6	37	c.745C>T	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	37	6.480735	0.97603	.	.	ENSG00000112941	ENST00000230859	.	.	.	5.43	4.56	0.56223	.	0.120483	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-10.7358	13.8039	0.63218	0.0:0.9267:0.0:0.0733	.	.	.	.	X	249	.	ENSP00000230859:Q249X	Q	+	1	0	PAPD7	6801612	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	5.483000	0.66838	1.286000	0.44565	0.561000	0.74099	CAG		0.542	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		8	1487	0	0	0	1	0	8	1487					T	6748612	C	T	6748612	4	4	102	1	0	0	0	0	0	1	0	0	11468	711	25	2	771	2	PAPD7	5	6748612	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1566257	6748612	174166648	101	34956											
MARCH6	10299	broad.mit.edu	37	chr5	10426548	10426548	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaccttcactatattgttcGtaaactggcagctcccgtga	8	11	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:10426548G>A	ENST00000274140.5	+	24	2552	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	807					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TATATTGTTCGTAAACTGGCA	0.418																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2419-2421)cGt>cAt		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							431	367	389					5																	10426548		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10426548G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2420G>A	5.37:g.10426548G>A	ENSP00000274140:p.Arg807His					MARCH6_ENST00000503788.1_Missense_Mutation_p.R702H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R759H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R505H	p.R807H	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			24	2552	+			807					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2420G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560354	0.45590	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.53857	1.63;0.61;1.63;0.6	5.63	3.85	0.44370	.	0.049904	0.85682	D	0.000000	T	0.48750	0.1517	M	0.61703	1.905	0.58432	D	0.999999	B;B;B;B	0.14012	0.006;0.003;0.003;0.009	B;B;B;B	0.11329	0.006;0.002;0.003;0.003	T	0.43782	-0.9370	10	0.42905	T	0.14	-13.3496	11.15	0.48453	0.0662:0.0:0.8052:0.1285	.	702;759;387;807	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	759;702;807;505	ENSP00000414643:R759H;ENSP00000425930:R702H;ENSP00000274140:R807H;ENSP00000424512:R505H	ENSP00000274140:R807H	R	+	2	0	MARCH6	10479548	0.998000	0.40836	0.504000	0.27639	0.951000	0.60555	3.730000	0.55006	0.849000	0.35215	0.655000	0.94253	CGT		0.418	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		8	1132	0	0	0	1	0	8	1132					A	10426548	G	A	10426548	3	1	102	1	0	0	0	0	1	0	0	0	9346	1145	40	1	2514	1	MARCH6	5	10426548	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3677936	10426548	170488712	102	34957											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	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.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		10	1271						10	1271	---	---	---	---	-	24492973	A	-	24492973	7	5	102	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	14066425	24492973	156422287	103	34958											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	13	13	0	0	rs139769264		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483																																						ENST00000265069.8																			1	Substitution - coding silent(1)	p.A294A(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(880-882)gcT>gcA		zinc finger RNA binding protein		A		0,4406		0,0,2203	35	36	36		882	-7.9	1	5	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFR	NM_016107.3		0,1,6502	TT,TA,AA		0.0116,0.0,0.0077		294/1075	32407029	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407029A>T	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.882T>A	5.37:g.32407029A>T							p.A294A	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	984	-			294			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.882T>A	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711849	0.30322	0.0	1.16E-4	ENSG00000056097	ENST00000416900	.	.	.	5.89	-7.9	0.01169	.	.	.	.	.	T	0.27731	0.0682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	5	0.08179	T	0.78	.	8.2119	0.31488	0.2876:0.1859:0.0:0.5266	.	.	.	.	S	175	.	ENSP00000393243:C175S	C	-	1	0	ZFR	32442786	0.089000	0.21612	0.989000	0.46669	0.998000	0.95712	-1.076000	0.03420	-0.596000	0.05821	0.454000	0.30748	TGC		0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	325	0	0	0	1	0	7	325					T	32407029	A	T	32407029	2	4	102	1	0	0	0	0	0	0	0	1	17712	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	7914056	32407029	148508231	104	34959											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg					rs576181814		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|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 migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		7	450						7	450	---	---	---	---	-	44388717	AGC	-	44388715	7	5	102	1	0	1	0	1	0	0	0	0	5864	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-LB-A7SX-01A-11D-A33T-08	11981686	44388715	136526545	105	34960											
MRPS30	10884	broad.mit.edu	37	chr5	44815301	44815301	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatcacagctgttggaaaaCtgaaaaagcatatttgattg	8	5	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:44815301C>T	ENST00000507110.1	+	5	1355	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	439					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TGTTGGAAAACTGAAAAAGCA	0.294																																						ENST00000507110.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(1315-1317)aaC>aaT		mitochondrial ribosomal protein S30							36	38	37					5																	44815301		2203	4297	6500	SO:0001819	synonymous_variant	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44815301C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.1317C>T	5.37:g.44815301C>T							p.N439N	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			5	1355	+	Lung NSC(6;8.08e-07)		439					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	ENST00000507110.1	37	c.1317C>T	CCDS3951.1																																																																																				0.294	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		9	277	0	0	0	1	0	9	277					T	44815301	C	T	44815301	2	4	102	1	0	0	0	0	0	0	0	1	9881	564	20	2		2	MRPS30	5	44815301	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	426586	44815301	136099959	106	34961											
FLJ37543	285668	broad.mit.edu	37	chr5	60982782	60982782	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattactccaaattgccccGcactgcgatagagacagagt	9	12	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:60982782G>A	ENST00000505642.1	+	3	185	c.110G>A	c.(109-111)cGc>cAc	p.R37H	RP11-2O17.2_ENST00000513386.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron|C5orf64_ENST00000313303.7_Missense_Mutation_p.R37H|RP11-2O17.2_ENST00000507264.1_RNA	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	37						extracellular region (GO:0005576)				breast(1)	1						AAATTGCCCCGCACTGCGATA	0.438																																						ENST00000505642.1																			0				breast(1)	1						c.(109-111)cGc>cAc		chromosome 5 open reading frame 64							155	146	149					5																	60982782		1922	4146	6068	SO:0001583	missense	285668					extracellular region		g.chr5:60982782G>A		CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.110G>A	5.37:g.60982782G>A	ENSP00000423157:p.Arg37His					RP11-2O17.2_ENST00000513386.1_RNA|C5orf64_ENST00000313303.7_Missense_Mutation_p.R37H|RP11-2O17.2_ENST00000507264.1_RNA|RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000510414.1_Intron	p.R37H	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN			3	185	+			37					Q2M2H1|Q8N1U8	Missense_Mutation	SNP	ENST00000505642.1	37	c.110G>A	CCDS54860.1	.	.	.	.	.	.	.	.	.	.	G	0.058	-1.230594	0.01518	.	.	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.39787	1.06;1.06	5.03	-1.91	0.07641	.	1.942700	0.03040	N	0.153165	T	0.23688	0.0573	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12116	-1.0560	10	0.51188	T	0.08	.	1.5518	0.02576	0.4749:0.173:0.1662:0.1858	.	37	Q2M2E5	CE064_HUMAN	H	37	ENSP00000423157:R37H;ENSP00000318395:R37H	ENSP00000318395:R37H	R	+	2	0	C5orf64	61018539	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.865000	0.01649	-0.678000	0.05224	-0.700000	0.03674	CGC		0.438	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368790.1	NM_173667		5	417	0	0	0	1	0	5	417					A	60982782	G	A	60982782	3	1	102	1	0	0	0	0	1	0	0	0	5954	1087	38	1	116	1	FLJ37543	5	60982782	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	16167481	60982782	119932478	107	34962											
RASA1	5921	broad.mit.edu	37	chr5	86670133	86670134	+	Frame_Shift_Del	DEL	TT	TT	-													tatggtcagaagagtttgtcTttgagtaagtcttattttat							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:86670133_86670134delTT	ENST00000274376.6	+	14	2494_2495	c.1930_1931delTT	c.(1930-1932)tttfs	p.F644fs	RASA1_ENST00000456692.2_Frame_Shift_Del_p.F467fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.F478fs|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Frame_Shift_Del_p.F477fs	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	644	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		AGAGTTTGTCTTTGAGTAAGTC	0.332																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1399-1401)tfs		RAS p21 protein activator (GTPase activating protein) 1																																				SO:0001589	frameshift_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86670133_86670134delTT		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.1930_1931delTT	5.37:g.86670133_86670134delTT	ENSP00000274376:p.Phe644fs					RASA1_ENST00000512763.1_Frame_Shift_Del_p.F477fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.F478fs|RASA1_ENST00000274376.6_Frame_Shift_Del_p.F644fs	p.F467fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	14	1514_1515	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	644					B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	37	c.1399_1400delTT	CCDS34200.1																																																																																				0.332	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		10	186						10	186	---	---	---	---	-	86670134	TT	-	86670133	7	5	102	1	0	1	0	1	0	0	0	0	13110	1609	56	0	1996	0	RASA1	5	86670133	Frame_Shift_Del	DEL	TT	TCGA-LB-A7SX-01A-11D-A33T-08	25687351	86670133	94245127	108	34963											
P4HA2	8974	broad.mit.edu	37	chr5	131546093	131546093	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtggcctcctccccgGcatcaagctgctttagcacc	10	15	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:131546093G>A	ENST00000401867.1	-	7	1161	c.593C>T	c.(592-594)gCc>gTc	p.A198V	P4HA2_ENST00000379104.2_Missense_Mutation_p.A198V|P4HA2_ENST00000166534.4_Missense_Mutation_p.A198V|P4HA2_ENST00000379086.1_Missense_Mutation_p.A198V|P4HA2_ENST00000379100.2_Missense_Mutation_p.A198V|P4HA2_ENST00000360568.3_Missense_Mutation_p.A198V			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	198					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)	CTCCTCCCCGGCATCAAGCTG	0.572																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(592-594)gCc>gTc		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						209	191	197					5																	131546093		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131546093G>A	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.593C>T	5.37:g.131546093G>A	ENSP00000384999:p.Ala198Val					P4HA2_ENST00000379104.2_Missense_Mutation_p.A198V|P4HA2_ENST00000379100.2_Missense_Mutation_p.A198V|P4HA2_ENST00000379086.1_Missense_Mutation_p.A198V|P4HA2_ENST00000360568.3_Missense_Mutation_p.A198V|P4HA2_ENST00000166534.4_Missense_Mutation_p.A198V	p.A198V			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1161	-		all_cancers(142;0.103)|Breast(839;0.198)	198					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.593C>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880750	0.51801	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100;ENST00000417528;ENST00000431054	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.92	3.97	0.46021	Tetratricopeptide-like helical (1);	0.488693	0.23132	N	0.051565	T	0.35307	0.0927	L	0.47716	1.5	0.29787	N	0.833534	B;B	0.16802	0.019;0.009	B;B	0.22152	0.028;0.038	T	0.22173	-1.0224	10	0.46703	T	0.11	-2.6784	9.8318	0.40946	0.0:0.1031:0.6031:0.2938	.	198;198	O15460;O15460-2	P4HA2_HUMAN;.	V	198;198;198;198;198;198;198;230	ENSP00000384999:A198V;ENSP00000368379:A198V;ENSP00000166534:A198V;ENSP00000353772:A198V;ENSP00000368398:A198V;ENSP00000368394:A198V	ENSP00000166534:A198V	A	-	2	0	P4HA2	131573992	0.101000	0.21875	0.997000	0.53966	0.886000	0.51366	1.254000	0.32897	2.809000	0.96659	0.467000	0.42956	GCC		0.572	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		6	771	0	0	0	1	0	6	771					A	131546093	G	A	131546093	3	1	102	1	0	0	0	0	1	0	0	0	11399	1203	42	2	1118	2	P4HA2	5	131546093	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	44875960	131546093	49369167	109	34964											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308195	140308195	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtggaaattgtgccccgctCtgccaggactggacacttgg	13	11	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:140308195C>T	ENST00000253807.2	+	1	1718	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S573F|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|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)			GTGCCCCGCTCTGCCAGGACT	0.488																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(1717-1719)tCt>tTt									110	115	113					5																	140308195		2203	4300	6503	SO:0001583	missense	0							g.chr5:140308195C>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1718C>T	5.37:g.140308195C>T	ENSP00000253807:p.Ser573Phe					PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S573F|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron	p.S573F	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1718	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1718C>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	4.946	0.175719	0.09391	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.60920	0.15;0.15	5.95	1.95	0.26073	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.61400	0.2344	M	0.83483	2.645	0.22226	N	0.999273	B;B	0.31209	0.313;0.043	B;B	0.41236	0.351;0.047	T	0.59101	-0.7517	9	0.49607	T	0.09	.	2.6964	0.05136	0.2432:0.478:0.1188:0.1601	.	573;573	Q9H158;Q9H158-2	PCDC1_HUMAN;.	F	573	ENSP00000386356:S573F;ENSP00000253807:S573F	ENSP00000253807:S573F	S	+	2	0	PCDHAC1	140288379	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.405000	0.21015	0.376000	0.24707	0.563000	0.77884	TCT		0.488	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		10	534	0	0	0	1	0	10	534					T	140308195	C	T	140308195	3	4	102	1	0	0	0	0	1	0	0	0	11574	913	32	2	1720	2	PCDHAC1	5	140308195	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	8762102	140308195	40607065	110	34965											
STK10	6793	broad.mit.edu	37	chr5	171510042	171510042	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	actcagctgggtctggttccGatgctcttctttctggagca	11	11	5	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr5:171510042G>A	ENST00000176763.5	-	11	2075	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	578					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTGGTTCCGATGCTCTTCT	0.478																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1732-1734)Cgg>Tgg		serine/threonine kinase 10							109	105	106					5																	171510042		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171510042G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1732C>T	5.37:g.171510042G>A	ENSP00000176763:p.Arg578Trp						p.R578W	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		11	2075	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	578					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1732C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048330	0.75846	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.74842	-0.88	5.22	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85652	0.5746	M	0.83223	2.63	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.86032	0.1514	10	0.87932	D	0	.	11.8661	0.52495	0.0:0.0:0.6632:0.3368	.	578	O94804	STK10_HUMAN	W	578	ENSP00000176763:R578W	ENSP00000176763:R578W	R	-	1	2	STK10	171442647	0.982000	0.34865	0.983000	0.44433	0.980000	0.70556	1.712000	0.37940	0.507000	0.28148	0.655000	0.94253	CGG		0.478	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		21	417	0	0	0	1	0	21	417					A	171510042	G	A	171510042	3	1	102	1	0	0	0	0	1	0	0	0	15338	1057	37	1	1210	1	STK10	5	171510042	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	31201847	171510042	9405218	111	34966											
PRL	5617	broad.mit.edu	37	chr6	22290545	22290545	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acagaggctcattccaggatCgcaatatgctgactatcagg	10	10	2	2	rs139327343	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:22290545C>T	ENST00000306482.1	-	4	868	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	117					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)					ATTCCAGGATCGCAATATGCT	0.423													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17704	0.0		0.0	False		,,,				2504	0.0					ENST00000306482.1																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16						c.(349-351)cGa>cAa		prolactin		C	GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	116	109	112		350,350	4.1	0.9	6	dbSNP_134	112	0,8600		0,0,4300	yes	missense,missense	PRL	NM_000948.5,NM_001163558.2	43,43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	117/228,117/228	22290545	3,13003	2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22290545C>T	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.350G>A	6.37:g.22290545C>T	ENSP00000302150:p.Arg117Gln					RP3-404K8.2_ENST00000561912.1_RNA	p.R117Q	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN			4	868	-	Ovarian(93;0.163)		117					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.350G>A	CCDS4548.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.55	1.972820	0.34848	6.81E-4	0.0	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.87650	-2.28	5.87	4.05	0.47172	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.376195	0.34088	N	0.004279	T	0.68311	0.2987	L	0.42245	1.32	0.38772	D	0.954562	B;P	0.42556	0.148;0.783	B;B	0.34873	0.023;0.191	T	0.66468	-0.5916	10	0.26408	T	0.33	1.517	10.4581	0.44563	0.135:0.7953:0.0:0.0697	.	117;118	P01236;Q5I0G2	PRL_HUMAN;.	Q	117;86	ENSP00000302150:R117Q	ENSP00000302150:R117Q	R	-	2	0	PRL	22398524	0.993000	0.37304	0.907000	0.35723	0.318000	0.28184	2.575000	0.46025	0.887000	0.36136	0.655000	0.94253	CGA		0.423	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		162	172	0	0	0	1	0	162	172					T	22290545	C	T	22290545	3	4	102	1	0	0	0	0	1	0	0	0	12575	884	31	1	341	1	PRL	6	22290545	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		22290545	148824522	112	34967											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833264	27833264	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcaactatgctgagcgggtCggggccggcgcgccggtgta	19	11	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:27833264C>T	ENST00000357320.2	+	1	231	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	44						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						CTGAGCGGGTCGGGGCCGGCG	0.692																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(130-132)gtC>gtT		histone cluster 1, H2al							46	54	52					6																	27833264		2202	4299	6501	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833264C>T	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.132C>T	6.37:g.27833264C>T							p.V44V	NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN			1	231	+			44					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.132C>T	CCDS4634.1																																																																																				0.692	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		31	507	0	0	0	1	0	31	507					T	27833264	C	T	27833264	2	4	102	1	0	0	0	0	0	0	0	1	7168	871	31	1		1	HIST1H2AL	6	27833264	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5542719	27833264	143281803	113	34968											
VARS2	57176	broad.mit.edu	37	chr6	30889969	30889969	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgttctgggtgggccGcatggtcatgttggggaccc	16	10	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:30889969G>A	ENST00000321897.5	+	19	2515	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.R488H|VARS2_ENST00000541562.1_Missense_Mutation_p.R658H|VARS2_ENST00000416670.2_Missense_Mutation_p.R628H			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	628					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R628H(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGGGTGGGCCGCATGGTCATG	0.587																																						ENST00000321897.5																			1	Substitution - Missense(1)	p.R628H(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						c.(1882-1884)cGc>cAc		valyl-tRNA synthetase 2, mitochondrial							111	118	115					6																	30889969		1508	2708	4216	SO:0001583	missense	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30889969G>A	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.1883G>A	6.37:g.30889969G>A	ENSP00000316092:p.Arg628His					VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.R628H|VARS2_ENST00000542001.1_Missense_Mutation_p.R488H|VARS2_ENST00000541562.1_Missense_Mutation_p.R658H	p.R628H			Q5ST30	SYVM_HUMAN			19	2515	+			628					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	ENST00000321897.5	37	c.1883G>A	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225926	0.95173	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.14	5.14	0.70334	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.098318	0.64402	D	0.000002	T	0.53948	0.1828	M	0.91090	3.175	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64067	-0.6494	10	0.87932	D	0	-23.951	16.1439	0.81551	0.0:0.0:1.0:0.0	.	626;658;628	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	H	628;628;488;658	ENSP00000316092:R628H;ENSP00000394802:R628H;ENSP00000438200:R488H;ENSP00000441000:R658H	ENSP00000316092:R628H	R	+	2	0	VARS2	30997948	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.722000	0.91452	2.686000	0.91538	0.561000	0.74099	CGC		0.587	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		7	695	0	0	0	1	0	7	695					A	30889969	G	A	30889969	3	1	102	1	0	0	0	0	1	0	0	0	17178	1087	38	1	2051	1	VARS2	6	30889969	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3056705	30889969	140225098	114	34969											
ZNF318	24149	broad.mit.edu	37	chr6	43322499	43322499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaggcacttgggccGcaggaattgagcctcgcaga	14	12	0	2	rs374413744		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:43322499G>A	ENST00000361428.2	-	4	2650	c.2573C>T	c.(2572-2574)gCg>gTg	p.A858V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A858V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	858					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)			CACTTGGGCCGCAGGAATTGA	0.498																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(2572-2574)gCg>gTg		zinc finger protein 318							182	165	171					6																	43322499		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322499G>A	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.2573C>T	6.37:g.43322499G>A	ENSP00000354964:p.Ala858Val					ZNF318_ENST00000318149.3_Missense_Mutation_p.A858V	p.A858V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2650	-			858					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2573C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314280	0.05422	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.29917	1.55;2.8	5.79	0.789	0.18607	.	1.296480	0.04786	N	0.430667	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	10	0.10902	T	0.67	5.7644	4.9415	0.13967	0.2936:0.0:0.5709:0.1355	.	858	Q5VUA4	ZN318_HUMAN	V	858	ENSP00000323032:A858V;ENSP00000354964:A858V	ENSP00000323032:A858V	A	-	2	0	ZNF318	43430477	0.019000	0.18553	0.001000	0.08648	0.791000	0.44710	0.712000	0.25779	-0.148000	0.11234	0.655000	0.94253	GCG		0.498	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		5	410	0	0	0	1	0	5	410					A	43322499	G	A	43322499	3	1	102	1	0	0	0	0	1	0	0	0	17889	1087	38	1	4294	1	ZNF318	6	43322499	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	12432530	43322499	127792568	115	34970											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		8	343						8	343	---	---	---	---	-	88144700	A	-	88144700	7	5	102	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	44822201	88144700	82970367	116	34971											
POPDC3	64208	broad.mit.edu	37	chr6	105609437	105609437	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaagagatccccaggggctgGaaaagggagctgtacaacac	13	9	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:105609437G>A	ENST00000254765.3	-	2	626	c.348C>T	c.(346-348)ttC>ttT	p.F116F	BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	116					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CCAGGGGCTGGAAAAGGGAGC	0.443																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(346-348)ttC>ttT		popeye domain containing 3							138	148	145					6																	105609437		2203	4300	6503	SO:0001819	synonymous_variant	64208					integral to membrane		g.chr6:105609437G>A	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.348C>T	6.37:g.105609437G>A						BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369122.3_RNA|POPDC3_ENST00000474760.1_Intron	p.F116F	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			2	626	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	116					B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	c.348C>T	CCDS5052.1																																																																																				0.443	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		315	354	0	0	0	1	0	315	354					A	105609437	G	A	105609437	2	1	102	1	0	0	0	0	0	0	0	1	12298	1165	41	2		2	POPDC3	6	105609437	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17464737	105609437	65505630	117	34972											
ZBTB24	9841	broad.mit.edu	37	chr6	109802729	109802729	+	Frame_Shift_Del	DEL	T	T	-													tcctcctgcaatgtattgacTttttttggtcttccccgttt							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:109802729delT	ENST00000230122.3	-	2	668	c.501delA	c.(499-501)aaafs	p.K167fs		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	167					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)		ATGTATTGACTTTTTTTGGTC	0.418																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(499-501)aafs		zinc finger and BTB domain containing 24							159	168	165					6																	109802729		2203	4300	6503	SO:0001589	frameshift_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802729delT	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.501delA	6.37:g.109802729delT	ENSP00000230122:p.Lys167fs						p.K167fs	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	668	-		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)	167					Q17RC6|Q5TED5|Q8N455	Frame_Shift_Del	DEL	ENST00000230122.3	37	c.501delA	CCDS34509.1																																																																																				0.418	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		7	990						7	990	---	---	---	---	-	109802729	T	-	109802729	7	5	102	1	0	1	0	1	0	0	0	0	17584	1606	56	0	1666	0	ZBTB24	6	109802729	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	4193292	109802729	61312338	118	34973											
FAM184A	79632	broad.mit.edu	37	chr6	119285893	119285893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaacactttgttgaagttaGtttctcgattgactaattcc	6	7	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:119285893G>A	ENST00000338891.7	-	16	3520	c.3077C>T	c.(3076-3078)aCt>aTt	p.T1026I	FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1026						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						GTTGAAGTTAGTTTCTCGATT	0.303																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(3076-3078)aCt>aTt		family with sequence similarity 184, member A							107	98	101					6																	119285893		1828	4074	5902	SO:0001583	missense	79632							g.chr6:119285893G>A	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.3077C>T	6.37:g.119285893G>A	ENSP00000342604:p.Thr1026Ile					FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000352896.5_Missense_Mutation_p.T857I|FAM184A_ENST00000521531.1_Intron|RP11-351A11.1_ENST00000518570.1_RNA	p.T1026I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			16	3520	-			1026					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.3077C>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087818	0.76642	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368472	T;T;T	0.52057	2.35;2.29;0.68	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.60520	-0.7247	10	0.41790	T	0.15	-12.1337	19.9925	0.97371	0.0:0.0:1.0:0.0	.	857;1026	F8W8D6;Q8NB25	.;F184A_HUMAN	I	1026;857;87	ENSP00000342604:T1026I;ENSP00000326608:T857I;ENSP00000357457:T87I	ENSP00000342604:T1026I	T	-	2	0	FAM184A	119327592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.655000	0.74392	2.721000	0.93114	0.655000	0.94253	ACT		0.303	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		12	114	0	0	0	1	0	12	114					A	119285893	G	A	119285893	3	1	102	1	0	0	0	0	1	0	0	0	5532	1029	36	2	357	2	FAM184A	6	119285893	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	9483164	119285893	51829174	119	34974											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		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)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	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.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	746						7	746	---	---	---	---	T	129959603	-	T	129959602	7	5	102	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	10673709	129959602	41155465	120	34975											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				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)	p.Q33K(1)		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)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	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.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	485						7	485	---	---	---	---	-	137815212	TGG	-	137815210	7	5	102	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-LB-A7SX-01A-11D-A33T-08	7855608	137815210	33299857	121	34976											
GRM1	2911	broad.mit.edu	37	chr6	146350993	146350993	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgctggcactcttccGtggctctggaacagagcatt	10	13	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:146350993G>A	ENST00000282753.1	+	1	575	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	GRM1_ENST00000392299.2_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000355289.4_Missense_Mutation_p.V114M|GRM1_ENST00000361719.2_Missense_Mutation_p.V114M|GRM1_ENST00000507907.1_Missense_Mutation_p.V114M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	114					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)		GCACTCTTCCGTGGCTCTGGA	0.567																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(340-342)Gtg>Atg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						48	47	48					6																	146350993		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146350993G>A	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.340G>A	6.37:g.146350993G>A	ENSP00000282753:p.Val114Met					GRM1_ENST00000282753.1_Missense_Mutation_p.V114M|GRM1_ENST00000355289.4_Missense_Mutation_p.V114M|GRM1_ENST00000492807.2_Missense_Mutation_p.V114M|GRM1_ENST00000507907.1_Missense_Mutation_p.V114M|GRM1_ENST00000361719.2_Missense_Mutation_p.V114M	p.V114M			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	810	+		Ovarian(120;0.0387)	114					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.340G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326441	0.81690	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.69	5.69	0.88448	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.71593	-0.4546	10	0.54805	T	0.06	.	19.8011	0.96507	0.0:0.0:1.0:0.0	.	114;114;109;114	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	M	114	ENSP00000354896:V114M;ENSP00000376119:V114M;ENSP00000424095:V114M;ENSP00000282753:V114M;ENSP00000347437:V114M;ENSP00000425599:V114M	ENSP00000282753:V114M	V	+	1	0	GRM1	146392686	1.000000	0.71417	0.978000	0.43139	0.966000	0.64601	9.869000	0.99810	2.679000	0.91253	0.561000	0.74099	GTG		0.567	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		21	155	0	0	0	1	0	21	155					A	146350993	G	A	146350993	3	1	102	1	0	0	0	0	1	0	0	0	6826	1145	40	1	342	1	GRM1	6	146350993	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8535783	146350993	24764074	122	34977											
RAET1G	353091	broad.mit.edu	37	chr6	150240238	150240238	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagtcctcaagccatcctGtgcagtctcccattgagatg	9	12	2	2	rs200821816		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:150240238G>A	ENST00000367360.2	-	3	639	c.572C>T	c.(571-573)aCa>aTa	p.T191I	RAET1G_ENST00000479265.1_Missense_Mutation_p.T191I|RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AAGCCATCCTGTGCAGTCTCC	0.483																																						ENST00000367360.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13						c.(571-573)aCa>aTa		retinoic acid early transcript 1G							229	213	219					6																	150240238		2203	4300	6503	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240238G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"retinoic acid early transcript 1G pseudogene"			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.572C>T	6.37:g.150240238G>A	ENSP00000356329:p.Thr191Ile					RAET1G_ENST00000479265.1_Missense_Mutation_p.T191I|RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	p.T191I	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	3	639	-		Ovarian(120;0.0907)	191			MHC class I alpha-2 like.			Missense_Mutation	SNP	ENST00000367360.2	37	c.572C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	3.947	-0.013017	0.07727	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.61158	0.13;0.13	2.4	-1.72	0.08107	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	0.09598	0.0236	N	0.05078	-0.115	0.09310	N	1	B	0.22211	0.066	B	0.28232	0.087	T	0.32322	-0.9911	9	0.09338	T	0.73	.	3.3876	0.07277	0.0:0.3347:0.2213:0.444	.	191	Q6H3X3	RET1G_HUMAN	I	191	ENSP00000356329:T191I;ENSP00000417503:T191I	ENSP00000356329:T191I	T	-	2	0	RAET1G	150281931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.322000	0.02695	-0.497000	0.06641	-0.432000	0.05891	ACA		0.483	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			5	580	0	0	0	1	0	5	580					A	150240238	G	A	150240238	3	1	102	1	0	0	0	0	1	0	0	0	13050	1377	48	2	444	2	RAET1G	6	150240238	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3889245	150240238	20874829	123	34978											
C6orf118	168090	broad.mit.edu	37	chr6	165715503	165715503	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcctccttcatcctcGccaccttccctgcgggcggc	10	20	1	0	rs149637046	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr6:165715503G>A	ENST00000230301.8	-	2	328	c.308C>T	c.(307-309)gCg>gTg	p.A103V	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	103										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)		CTTCATCCTCGCCACCTTCCC	0.682													G|||	4	0.000798722	0.0023	0.0	5008	,	,		15733	0.0		0.0	False		,,,				2504	0.001					ENST00000230301.8																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(307-309)gCg>gTg		chromosome 6 open reading frame 118		G	VAL/ALA	9,4397	15.5+/-35.6	0,9,2194	61	65	64		308	-0.3	0	6	dbSNP_134	64	0,8600		0,0,4300	yes	missense	C6orf118	NM_144980.3	64	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	103/470	165715503	9,12997	2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715503G>A		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.308C>T	6.37:g.165715503G>A	ENSP00000230301:p.Ala103Val					C6orf118_ENST00000543069.1_5'UTR	p.A103V	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	328	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	103					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.308C>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.468132	0.26335	0.002043	0.0	ENSG00000112539	ENST00000230301	T	0.13420	2.59	5.31	-0.284	0.12870	.	1.611550	0.03200	N	0.174686	T	0.02193	0.0068	N	0.12182	0.205	0.09310	N	0.999999	P	0.39964	0.697	B	0.35899	0.213	T	0.30909	-0.9962	10	0.41790	T	0.15	.	5.3731	0.16150	0.0723:0.1041:0.4543:0.3693	.	103	Q5T5N4	CF118_HUMAN	V	103	ENSP00000230301:A103V	ENSP00000230301:A103V	A	-	2	0	C6orf118	165635493	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.564000	0.23563	-0.305000	0.08831	-0.797000	0.03246	GCG		0.682	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		5	418	0	0	0	1	0	5	418					A	165715503	G	A	165715503	3	1	102	1	0	0	0	0	1	0	0	0	2330	1087	38	1	1133	1	C6orf118	6	165715503	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	15475265	165715503	5399564	124	34979											
PRKAR1B	5575	broad.mit.edu	37	chr7	720341	720341	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtttgacttttgccgcGccaaaatctgcctgttttct	9	10	2	2	rs183383238	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:720341G>A	ENST00000406797.1	-	3	374	c.200C>T	c.(199-201)gCg>gTg	p.A67V	PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A67V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	67	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)		CTTTTGCCGCGCCAAAATCTG	0.607													G|||	5	0.000998403	0.0	0.0	5008	,	,		16495	0.005		0.0	False		,,,				2504	0.0					ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(199-201)gCg>gTg		protein kinase, cAMP-dependent, regulatory, type I, beta							79	76	77					7																	720341		2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720341G>A	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.200C>T	7.37:g.720341G>A	ENSP00000385749:p.Ala67Val					PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A67V|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A67V|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A67V	p.A67V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		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)	3	374	-		Ovarian(82;0.0779)	67			Dimerization and phosphorylation.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.200C>T	CCDS34579.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.126	0.578878	0.13686	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92805	-2.11;-2.11;-2.11;-2.11;-2.11;-3.11;-1.88;-3.09	5.06	3.22	0.36961	.	0.239442	0.33591	N	0.004743	T	0.73552	0.3601	N	0.08118	0	0.48696	D	0.999694	B	0.31100	0.308	B	0.14578	0.011	T	0.69855	-0.5032	10	0.27785	T	0.31	-5.3914	9.7708	0.40589	0.0738:0.0:0.786:0.1401	.	67	P31321	KAP1_HUMAN	V	67;67;67;67;67;67;12;67	ENSP00000440449:A67V;ENSP00000444487:A67V;ENSP00000385749:A67V;ENSP00000385349:A67V;ENSP00000353415:A67V;ENSP00000402648:A67V;ENSP00000394633:A12V;ENSP00000406670:A67V	ENSP00000353415:A67V	A	-	2	0	PRKAR1B	686867	0.995000	0.38212	0.009000	0.14445	0.063000	0.16089	2.697000	0.47060	0.521000	0.28445	-0.258000	0.10820	GCG		0.607	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			7	597	0	0	0	1	0	7	597					A	720341	G	A	720341	3	1	102	1	0	0	0	0	1	0	0	0	12551	1087	38	1	981	1	PRKAR1B	7	720341	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		720341	158418322	125	34980											
HDAC9	9734	broad.mit.edu	37	chr7	18788739	18788739	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcacgactgcaagaaaCtgggctgctaaataaatgtg	11	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:18788739C>A	ENST00000432645.2	+	13	2012	c.2012C>A	c.(2011-2013)aCt>aAt	p.T671N	HDAC9_ENST00000406451.4_Missense_Mutation_p.T671N|HDAC9_ENST00000401921.1_Missense_Mutation_p.T630N|HDAC9_ENST00000441542.2_Missense_Mutation_p.T674N	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	671	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)	CTGCAAGAAACTGGGCTGCTA	0.438																																						ENST00000406451.3																			0				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						c.(2011-2013)aCt>aAt		histone deacetylase 9	Valproic Acid(DB00313)						80	78	79					7																	18788739		1911	4139	6050	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18788739C>A	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.2012C>A	7.37:g.18788739C>A	ENSP00000410337:p.Thr671Asn					HDAC9_ENST00000432645.2_Missense_Mutation_p.T671N|HDAC9_ENST00000441542.2_Missense_Mutation_p.T674N|HDAC9_ENST00000401921.1_Missense_Mutation_p.T630N	p.T671N	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			14	2162	+	all_lung(11;0.187)		671			Histone deacetylase.		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.2012C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884382	0.51908	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.3	5.3	0.74995	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000010	T	0.70894	0.3276	M	0.65975	2.015	0.80722	D	1	B;P;P;P;P;P;P	0.43885	0.001;0.82;0.64;0.64;0.69;0.64;0.69	B;B;B;B;B;B;B	0.41666	0.01;0.328;0.248;0.248;0.363;0.248;0.279	T	0.74973	-0.3481	10	0.56958	D	0.05	-19.3258	15.5062	0.75743	0.0:0.8616:0.1384:0.0	.	671;583;630;674;671;671;649	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	N	671;630;671;674;583	ENSP00000384657:T671N;ENSP00000383912:T630N;ENSP00000410337:T671N;ENSP00000408617:T674N	ENSP00000339165:T583N	T	+	2	0	HDAC9	18755264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.797000	0.55514	2.756000	0.94617	0.563000	0.77884	ACT		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			34	100	1	0	1.62565e-12	1	1.74373e-12	34	100					A	18788739	C	A	18788739	3	1	102	1	0	0	0	0	1	0	0	0	7044	565	20	3	2122	3	HDAC9	7	18788739	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	18068398	18788739	140349924	126	34981											
HOXA1	3198	broad.mit.edu	37	chr7	27135317	27135319	+	In_Frame_Del	DEL	TGG	TGG	-													tagccggctgggggtggcgaTggtggtggtggtggtggtgg					rs2074398|rs587777901|rs544314279	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:27135317_27135319delTGG	ENST00000343060.4	-	1	274_276	c.213_215delCCA	c.(211-216)caccat>cat	p.71_72HH>H	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.71_72HH>H|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_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						ggggtggcgatggtggtggtggt	0.64											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(211-216)cat>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135317_27135319delTGG		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.213_215delCCA	7.37:g.27135326_27135328delTGG	ENSP00000343246:p.His72del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del	p.HH71del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	274_276	-			71			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.213_215delCCA	CCDS5401.1																																																																																				0.64	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			10	448						10	448	---	---	---	---	-	27135319	TGG	-	27135317	7	5	102	1	0	1	0	1	0	0	0	0	7318	1464	51	0	800	0	HOXA1	7	27135317	In_Frame_Del	DEL	TGG	TCGA-LB-A7SX-01A-11D-A33T-08	8346578	27135317	132003346	127	34982											
GLI3	2737	broad.mit.edu	37	chr7	42005168	42005168	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaggacaggtcggcgcttCcggagctgacttcgttccac	14	12	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:42005168C>T	ENST00000395925.3	-	15	3587	c.3503G>A	c.(3502-3504)gGa>gAa	p.G1168E	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1168					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						GTCGGCGCTTCCGGAGCTGAC	0.667									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112	GRCh37	CD991736	GLI3	D		c.(3502-3504)gGa>gAa		GLI family zinc finger 3							87	103	97					7																	42005168		2201	4296	6497	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005168C>T		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.3503G>A	7.37:g.42005168C>T	ENSP00000379258:p.Gly1168Glu					GLI3_ENST00000479210.1_5'UTR	p.G1168E	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3587	-			1168					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3503G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238133	0.79800	.	.	ENSG00000106571	ENST00000395925	T	0.63913	-0.07	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77747	-0.2472	10	0.66056	D	0.02	.	19.7785	0.96405	0.0:1.0:0.0:0.0	.	1168	P10071	GLI3_HUMAN	E	1168	ENSP00000379258:G1168E	ENSP00000379258:G1168E	G	-	2	0	GLI3	41971693	1.000000	0.71417	0.165000	0.22776	0.504000	0.33889	7.759000	0.85235	2.667000	0.90743	0.563000	0.77884	GGA		0.667	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	1072	0	0	0	1	0	8	1072					T	42005168	C	T	42005168	3	4	102	1	0	0	0	0	1	0	0	0	6468	855	30	2	1243	2	GLI3	7	42005168	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	14869851	42005168	117133495	128	34983											
GLI3	2737	broad.mit.edu	37	chr7	42018283	42018283	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgaagggtttctgctctcttGagcagtccagccacctgcac	10	13	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:42018283G>T	ENST00000395925.3	-	11	1646	c.1562C>A	c.(1561-1563)tCa>tAa	p.S521*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	521					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						CTGCTCTCTTGAGCAGTCCAG	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1561-1563)tCa>tAa		GLI family zinc finger 3							109	101	104					7																	42018283		2203	4300	6503	SO:0001587	stop_gained	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42018283G>T		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.1562C>A	7.37:g.42018283G>T	ENSP00000379258:p.Ser521*					GLI3_ENST00000479210.1_5'UTR	p.S521*	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			11	1646	-			521					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Nonsense_Mutation	SNP	ENST00000395925.3	37	c.1562C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	41	8.584889	0.98872	.	.	ENSG00000106571	ENST00000395925	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	.	.	.	X	521	.	ENSP00000379258:S521X	S	-	2	0	GLI3	41984808	1.000000	0.71417	0.965000	0.40720	0.998000	0.95712	7.817000	0.86213	2.763000	0.94921	0.650000	0.86243	TCA		0.453	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		154	276	1	0	1.34836e-70	1	1.49705e-70	154	276					T	42018283	G	T	42018283	4	4	102	1	0	0	0	0	0	1	0	0	6468	1294	45	3	3200	3	GLI3	7	42018283	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13115	42018283	117120380	129	34984											
ABCA13	154664	broad.mit.edu	37	chr7	48431547	48431547	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggggctccaccctcccaCttctggaaccatcatcatca	7	17	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:48431547C>T	ENST00000435803.1	+	38	11708	c.11684C>T	c.(11683-11685)aCt>aTt	p.T3895I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3895	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCCTCCCACTTCTGGAACC	0.522																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11683-11685)aCt>aTt		ATP-binding cassette, sub-family A (ABC1), member 13							80	80	80					7																	48431547		1999	4164	6163	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48431547C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11684C>T	7.37:g.48431547C>T	ENSP00000411096:p.Thr3895Ile						p.T3895I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			38	11708	+			3895			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11684C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749632	0.49257	.	.	ENSG00000179869	ENST00000435803	D	0.94330	-3.4	4.95	4.03	0.46877	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.178832	0.26016	U	0.026841	D	0.97018	0.9026	M	0.92412	3.305	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.74674	0.968;0.984	D	0.97391	0.9989	10	0.87932	D	0	.	12.1583	0.54089	0.0:0.7004:0.2996:0.0	.	1597;3895	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3895	ENSP00000411096:T3895I	ENSP00000411096:T3895I	T	+	2	0	ABCA13	48402093	0.183000	0.23186	0.451000	0.26982	0.445000	0.32107	1.741000	0.38238	2.296000	0.77279	0.467000	0.42956	ACT		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		5	196	0	0	0	1	0	5	196					T	48431547	C	T	48431547	3	4	102	1	0	0	0	0	1	0	0	0	31	565	20	2	11663	2	ABCA13	7	48431547	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6413264	48431547	110707116	130	34985											
GRM3	2913	broad.mit.edu	37	chr7	86468833	86468833	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagacaaactgcattgcccGcatcttcgatggggtcaaga	10	11	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:86468833G>A	ENST00000361669.2	+	4	3102	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.R260H|GRM3_ENST00000536043.1_Missense_Mutation_p.R540H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	668					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)					TGCATTGCCCGCATCTTCGAT	0.537																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2002-2004)cGc>cAc		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						114	107	109					7																	86468833		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	integral to plasma membrane		g.chr7:86468833G>A		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.2003G>A	7.37:g.86468833G>A	ENSP00000355316:p.Arg668His					GRM3_ENST00000546348.1_Missense_Mutation_p.R260H|GRM3_ENST00000536043.1_Missense_Mutation_p.R540H|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron	p.R668H	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	3102	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		668					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2003G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593198	0.86953	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.89746	-2.56;-2.56;-2.56	5.69	5.69	0.88448	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	M	0.90145	3.09	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	0.96133	0.9094	10	0.87932	D	0	.	18.7888	0.91965	0.0:0.0:1.0:0.0	.	260;540;668	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	H	668;260;540	ENSP00000355316:R668H;ENSP00000444064:R260H;ENSP00000441407:R540H	ENSP00000355316:R668H	R	+	2	0	GRM3	86306769	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.683000	0.91414	0.563000	0.77884	CGC		0.537	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			6	701	0	0	0	1	0	6	701					A	86468833	G	A	86468833	3	1	102	1	0	0	0	0	1	0	0	0	6828	1087	38	1	2013	1	GRM3	7	86468833	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	38037286	86468833	72669830	131	34986											
CPSF4	10898	broad.mit.edu	37	chr7	99051707	99051707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcatgcagagtcaaaacaGcagcgcgggcaaccggggac	15	11	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99051707G>A	ENST00000292476.5	+	7	699	c.689G>A	c.(688-690)aGc>aAc	p.S230N	CPSF4_ENST00000441580.1_Missense_Mutation_p.S152N|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000436336.2_Missense_Mutation_p.S205N|CPSF4_ENST00000451876.1_Missense_Mutation_p.S172N|ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	230					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 processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	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)					AGTCAAAACAGCAGCGCGGGC	0.592																																						ENST00000436336.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(613-615)aGc>aAc		cleavage and polyadenylation specific factor 4, 30kDa							91	105	100					7																	99051707		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051707G>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"cleavage and polyadenylation specific factor 4, 30kD subunit"			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.689G>A	7.37:g.99051707G>A	ENSP00000292476:p.Ser230Asn					CPSF4_ENST00000451876.1_Missense_Mutation_p.S172N|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.S152N|CPSF4_ENST00000292476.5_Missense_Mutation_p.S230N|ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron	p.S205N	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			7	775	+	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)		230					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.614G>A	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.09|15.09	2.731560|2.731560	0.48939|0.48939	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000452047|ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580	T|T;T;T;T	0.34667|0.76839	1.35|-1.05;-1.05;-1.05;-1.05	5.67|5.67	4.68|4.68	0.58851|0.58851	.|.	.|0.157084	.|0.64402	.|D	.|0.000001	T|T	0.51126|0.51126	0.1656|0.1656	N|N	0.04508|0.04508	-0.205|-0.205	0.40200|0.40200	D|D	0.977509|0.977509	.|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;0.001	T|T	0.50206|0.50206	-0.8855|-0.8855	7|10	0.11794|0.15952	T|T	0.64|0.53	-21.1406|-21.1406	6.8134|6.8134	0.23817|0.23817	0.1997:0.0:0.8003:0.0|0.1997:0.0:0.8003:0.0	.|.	.|152;204;230;205	.|B7Z7B0;O95639-3;O95639;O95639-2	.|.;.;CPSF4_HUMAN;.	T|N	141|205;172;230;152	ENSP00000392584:A141T|ENSP00000395311:S205N;ENSP00000396060:S172N;ENSP00000292476:S230N;ENSP00000402224:S152N	ENSP00000392584:A141T|ENSP00000292476:S230N	A|S	+|+	1|2	0|0	CPSF4|CPSF4	98889643|98889643	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	4.139000|4.139000	0.58024|0.58024	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.592	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			7	854	0	0	0	1	0	7	854					A	99051707	G	A	99051707	3	1	102	1	0	0	0	0	1	0	0	0	3837	971	34	2	715	2	CPSF4	7	99051707	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	12582874	99051707	60086956	132	34987											
C7orf43	55262	broad.mit.edu	37	chr7	99755385	99755385	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cttccacacagtcactacaaTctgtcaagaggaaagacaga	7	11	3	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:99755385T>A	ENST00000316937.3	-	3	693	c.508A>T	c.(508-510)Att>Ttt	p.I170F	C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_5'UTR|C7orf43_ENST00000419841.1_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	170										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)					GTCACTACAATCTGTCAAGAG	0.527											OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.e3-1		chromosome 7 open reading frame 43							105	104	104					7																	99755385		2203	4300	6503	SO:0001630	splice_region_variant	55262							g.chr7:99755385T>A		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.508-1A>T	7.37:g.99755385T>A			OREG0018198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1346	C7orf43_ENST00000457641.1_5'UTR	p.I170_splice	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			3	693	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		170					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Splice_Site	SNP	ENST00000316937.3	37	c.507_splice	CCDS5687.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.7|20.7	4.035638|4.035638	0.75617|0.75617	.|.	.|.	ENSG00000146826|ENSG00000146826	ENST00000456769|ENST00000316937	.|T	.|0.33216	.|1.42	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.072818	.|0.56097	.|D	.|0.000030	T|T	0.31544|0.31544	0.0800|0.0800	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.51866	.|0.682	T|T	0.10730|0.10730	-1.0617|-1.0617	5|10	.|0.72032	.|D	.|0.01	-9.3115|-9.3115	14.1012|14.1012	0.65056|0.65056	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|170	.|Q8WVR3	.|CG043_HUMAN	V|F	75|170	.|ENSP00000324741:I170F	.|ENSP00000324741:I170F	D|I	-|-	2|1	0|0	C7orf43|C7orf43	99593321|99593321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	3.517000|3.517000	0.53443|0.53443	2.217000|2.217000	0.71921|0.71921	0.379000|0.379000	0.24179|0.24179	GAT|ATT		0.527	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275	Missense_Mutation	172	564	0	0	0	1	0	172	564					A	99755385	T	A	99755385	5	1	102	1	0	0	0	0	0	0	1	0	2400	1449	50	5	1270	5	C7orf43	7	99755385	Splice_Site	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	703678	99755385	59383278	133	34988											
RINT1	60561	broad.mit.edu	37	chr7	105182892	105182892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaattcctaaaagaattcGaagtgccttaaaaaatgcag	7	6	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:105182892G>A	ENST00000257700.2	+	4	542	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	104					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						AAAAGAATTCGAAGTGCCTTA	0.328																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(310-312)cGa>cAa		RAD50 interactor 1							62	67	65					7																	105182892		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105182892G>A	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.311G>A	7.37:g.105182892G>A	ENSP00000257700:p.Arg104Gln					RINT1_ENST00000477285.1_3'UTR	p.R104Q	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			4	542	+			104					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.311G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	2.986	-0.209338	0.06140	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.20463	2.07	4.63	3.47	0.39725	.	0.315890	0.35179	N	0.003399	T	0.04497	0.0123	N	0.00268	-1.735	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.39057	-0.9632	10	0.09843	T	0.71	-1.5379	10.271	0.43483	0.9205:0.0:0.0795:0.0	.	104	Q6NUQ1	RINT1_HUMAN	Q	104;73	ENSP00000257700:R104Q	ENSP00000257700:R104Q	R	+	2	0	RINT1	104970128	1.000000	0.71417	0.986000	0.45419	0.841000	0.47740	4.133000	0.57983	0.606000	0.29965	-0.959000	0.02639	CGA		0.328	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		40	384	0	0	0	1	0	40	384					A	105182892	G	A	105182892	3	1	102	1	0	0	0	0	1	0	0	0	13426	1058	37	1	325	1	RINT1	7	105182892	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5427507	105182892	53955771	134	34989											
FOXP2	93986	broad.mit.edu	37	chr7	114269985	114269985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacaacaacaacaAcagcagcaacaacagcagca	6	14	0	0	rs368614280		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:114269985A>G	ENST00000393494.2	+	5	801	c.522A>G	c.(520-522)caA>caG	p.Q174Q	FOXP2_ENST00000393500.3_Silent_p.Q99Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q			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																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q199Q(1)	endometrium(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(295-297)caA>caG		forkhead box P2		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	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269985A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.522A>G	7.37:g.114269985A>G						FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000350908.4_Silent_p.Q174Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q	p.Q99Q			O15409	FOXP2_HUMAN			11	1117	+			174			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.297A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	280	0	0	0	1	0	6	280					G	114269985	A	G	114269985	2	3	102	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269985	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	9087093	114269985	44868678	135	34990											
CASP2	835	broad.mit.edu	37	chr7	143002066	143002066	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggatcgggaaggttatGctcctggcacagaattccac	11	10	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:143002066G>T	ENST00000310447.5	+	11	1502	c.1261G>T	c.(1261-1263)Gct>Tct	p.A421S	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	421					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)					GGAAGGTTATGCTCCTGGCAC	0.552																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(1261-1263)Gct>Tct		caspase 2, apoptosis-related cysteine peptidase							97	81	86					7																	143002066		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:143002066G>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.1261G>T	7.37:g.143002066G>T	ENSP00000312664:p.Ala421Ser					CASP2_ENST00000493642.1_3'UTR	p.A421S	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			11	1502	+	Melanoma(164;0.059)		421					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.1261G>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219130	0.95104	.	.	ENSG00000106144	ENST00000310447	T	0.29142	1.58	5.27	5.27	0.74061	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	N	0.11789	0.175	0.80722	D	1	D	0.59357	0.985	P	0.62560	0.904	T	0.03887	-1.0995	10	0.06494	T	0.89	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	421	P42575	CASP2_HUMAN	S	421	ENSP00000312664:A421S	ENSP00000312664:A421S	A	+	1	0	CASP2	142712188	1.000000	0.71417	0.963000	0.40424	0.944000	0.59088	9.394000	0.97261	2.478000	0.83669	0.650000	0.86243	GCT		0.552	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		95	238	1	0	1.37074e-43	1	1.51054e-43	95	238					T	143002066	G	T	143002066	3	4	102	1	0	0	0	0	1	0	0	0	2678	1319	46	3	1303	3	CASP2	7	143002066	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	28732081	143002066	16136597	136	34991											
MLL3	58508	broad.mit.edu	37	chr7	151860794	151860794	+	Frame_Shift_Del	DEL	G	G	-													tggagtggcacctggaattaGgggtggctggggctggacac							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:151860794delG	ENST00000262189.6	-	43	10086	c.9868delC	c.(9868-9870)ctafs	p.L3290fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.L3290fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3290	Gln-rich.|Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCTGGAATTAGGGGTGGCTGG	0.537																																						ENST00000355193.2																			0											c.(9868-9870)tafs		lysine (K)-specific methyltransferase 2C							153	127	136					7																	151860794		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151860794delG	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.9868delC	7.37:g.151860794delG	ENSP00000262189:p.Leu3290fs					KMT2C_ENST00000262189.6_Frame_Shift_Del_p.L3290fs	p.L3290fs							43	10086	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.9868delC	CCDS5931.1																																																																																				0.537	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			90	358						90	358	---	---	---	---	-	151860794	G	-	151860794	7	5	102	1	0	1	0	1	0	0	0	0	9663	991	35	0	4935	0	MLL3	7	151860794	Frame_Shift_Del	DEL	G	TCGA-LB-A7SX-01A-11D-A33T-08	8858728	151860794	7277869	137	34992											
XRCC2	7516	broad.mit.edu	37	chr7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-													tgctactactgcagtacaccAaaaaaaatcttcccaggcag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	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	117					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)	p.V118fs*5(1)		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)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79	80	80					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	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.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		8	559						8	559	---	---	---	---	-	152346220	A	-	152346220	7	5	102	1	0	1	0	1	0	0	0	0	17507	131	5	0	496	0	XRCC2	7	152346220	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	485426	152346220	6792443	138	34993											
ACTR3B	57180	broad.mit.edu	37	chr7	152551607	152551607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacgggcccagcatctgccGccacaaccccgtctttggag	11	16	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:152551607G>A	ENST00000256001.8	+	12	1360	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	ACTR3B_ENST00000397282.2_Missense_Mutation_p.R321H|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R321H|ACTR3B_ENST00000377776.3_Missense_Mutation_p.R339H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	409						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R409L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AGCATCTGCCGCCACAACCCC	0.547																																						ENST00000256001.8																			1	Substitution - Missense(1)	p.R409L(1)	lung(1)	breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(1225-1227)cGc>cAc		ARP3 actin-related protein 3 homolog B (yeast)							130	100	110					7																	152551607		2203	4300	6503	SO:0001583	missense	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152551607G>A		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1226G>A	7.37:g.152551607G>A	ENSP00000256001:p.Arg409His					ACTR3B_ENST00000377776.3_Missense_Mutation_p.R339H|ACTR3B_ENST00000537264.1_Missense_Mutation_p.R321H|ACTR3B_ENST00000397282.2_Missense_Mutation_p.R321H	p.R409H	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	12	1360	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	409					A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	ENST00000256001.8	37	c.1226G>A	CCDS5934.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968456	0.92855	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	T;D;D;D	0.94046	3.18;-3.34;-3.34;-3.34	4.83	3.95	0.45737	.	0.095097	0.42821	N	0.000643	D	0.93700	0.7987	L	0.31420	0.93	0.46279	D	0.998963	B;D	0.89917	0.109;1.0	B;D	0.97110	0.006;1.0	D	0.93847	0.7142	10	0.72032	D	0.01	.	12.2102	0.54375	0.0826:0.0:0.9174:0.0	.	339;409	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	H	339;409;321;321	ENSP00000367007:R339H;ENSP00000256001:R409H;ENSP00000380452:R321H;ENSP00000446157:R321H	ENSP00000256001:R409H	R	+	2	0	ACTR3B	152182540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.436000	0.80404	1.144000	0.42321	0.603000	0.83216	CGC		0.547	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		6	497	0	0	0	1	0	6	497					A	152551607	G	A	152551607	3	1	102	1	0	0	0	0	1	0	0	0	213	1087	38	1	1272	1	ACTR3B	7	152551607	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	205387	152551607	6587056	139	34994											
HTR5A	3361	broad.mit.edu	37	chr7	154862970	154862970	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccagctttggatcgcgtgcGacgtgctttgctgcacggcc	14	13	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:154862970G>A	ENST00000287907.2	+	1	937	c.361G>A	c.(361-363)Gac>Aac	p.D121N	HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.S15L|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.S15L	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	121					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)	p.D121N(1)		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)	GATCGCGTGCGACGTGCTTTG	0.672																																						ENST00000287907.2																			1	Substitution - Missense(1)	p.D121N(1)	endometrium(1)	NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(361-363)Gac>Aac		5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled							64	49	54					7																	154862970		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862970G>A		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.361G>A	7.37:g.154862970G>A	ENSP00000287907:p.Asp121Asn					AC093726.4_ENST00000395731.2_Missense_Mutation_p.S15L|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Missense_Mutation_p.S15L	p.D121N	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	937	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	121					Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.361G>A	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.834754|4.834754	0.91036|0.91036	.|.	.|.	ENSG00000157219|ENSG00000220575	ENST00000287907|ENST00000395731;ENST00000543018	T|.	0.37752|.	1.18|.	4.52|4.52	4.52|4.52	0.55395|0.55395	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85978|0.85978	0.5823|0.5823	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.77557|0.87578	0.99|0.998	D|D	0.89946|0.89946	0.4076|0.4076	10|8	0.87932|0.87932	D|D	0|0	.|.	17.4477|17.4477	0.87583|0.87583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121|15	P47898|B7Z8E6	5HT5A_HUMAN|.	N|L	121|15	ENSP00000287907:D121N|.	ENSP00000287907:D121N|ENSP00000379080:S15L	D|S	+|-	1|2	0|0	HTR5A|AC093726.4	154493903|154493903	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.629000|0.629000	0.37895|0.37895	7.411000|7.411000	0.80078|0.80078	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	GAC|TCG		0.672	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		19	271	0	0	0	1	0	19	271					A	154862970	G	A	154862970	3	1	102	1	0	0	0	0	1	0	0	0	7480	1058	37	1	363	1	HTR5A	7	154862970	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2311363	154862970	4275693	140	34995											
UBE3C	9690	broad.mit.edu	37	chr7	157049683	157049683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcactgatgaagaaaagcGcaaactgctgaagtttgtaa	10	6	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr7:157049683G>A	ENST00000348165.5	+	22	3386	c.3026G>A	c.(3025-3027)cGc>cAc	p.R1009H		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1009	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1009H(2)		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)		GAAGAAAAGCGCAAACTGCTG	0.423																																						ENST00000348165.5																			2	Substitution - Missense(2)	p.R1009H(2)	urinary_tract(1)|kidney(1)	central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(3025-3027)cGc>cAc		ubiquitin protein ligase E3C							168	160	163					7																	157049683		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157049683G>A	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.3026G>A	7.37:g.157049683G>A	ENSP00000309198:p.Arg1009His						p.R1009H	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	22	3386	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	1009			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.3026G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106411	0.77096	.	.	ENSG00000009335	ENST00000348165	T	0.60299	0.2	5.67	5.67	0.87782	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	T	0.79478	-0.1787	10	0.33141	T	0.24	.	19.7785	0.96405	0.0:0.0:1.0:0.0	.	1009;862	Q15386;B4DHJ9	UBE3C_HUMAN;.	H	1009	ENSP00000309198:R1009H	ENSP00000309198:R1009H	R	+	2	0	UBE3C	156742444	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	9.261000	0.95576	2.667000	0.90743	0.563000	0.77884	CGC		0.423	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		6	684	0	0	0	1	0	6	684					A	157049683	G	A	157049683	3	1	102	1	0	0	0	0	1	0	0	0	16935	1087	38	1	3112	1	UBE3C	7	157049683	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2186713	157049683	2088980	141	34996											
C8orf79	57604	broad.mit.edu	37	chr8	12870280	12870280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccactggtagagattgcccGgaatagaggatgtgaagcca	14	8	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:12870280G>A	ENST00000524591.2	+	4	731	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	81							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGATTGCCCGGAATAGAGGA	0.483																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(241-243)cGg>cAg		KIAA1456							140	140	140					8																	12870280		1978	4167	6145	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12870280G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.242G>A	8.37:g.12870280G>A	ENSP00000432695:p.Arg81Gln					KIAA1456_ENST00000447063.2_Missense_Mutation_p.R81Q	p.R81Q	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			4	731	+			81					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.242G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435344	0.83885	.	.	ENSG00000250305	ENST00000447063;ENST00000524591;ENST00000532376	T;T	0.50548	0.74;0.74	5.73	2.91	0.33838	Methyltransferase type 11 (1);	.	.	.	.	T	0.39545	0.1082	L	0.28054	0.825	0.80722	D	1	D;D	0.63046	0.992;0.982	P;P	0.50490	0.642;0.639	T	0.21449	-1.0245	9	0.56958	D	0.05	.	6.7573	0.23520	0.2527:0.1282:0.6191:0.0	.	81;81	E9PK20;Q9P272	.;K1456_HUMAN	Q	81	ENSP00000443288:R81Q;ENSP00000432695:R81Q	ENSP00000443288:R81Q	R	+	2	0	AC135352.2	12914651	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.535000	0.53575	0.880000	0.35969	0.655000	0.94253	CGG		0.483	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		5	379	0	0	0	1	0	5	379					A	12870280	G	A	12870280	3	1	102	1	0	0	0	0	1	0	0	0	2445	1116	39	1	248	1	C8orf79	8	12870280	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		12870280	133493742	142	34997											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	413						9	413	---	---	---	---	-	30945379	AAG	-	30945377	7	5	102	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-LB-A7SX-01A-11D-A33T-08	18075097	30945377	115418645	143	34998											
UNC5D	137970	broad.mit.edu	37	chr8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-													gaagcaactgaaggtggcggTttttggctgcatgtcctgta							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:35608248delT	ENST00000404895.2	+	13	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.V626fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695					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)		AAGGTGGCGGTTTTTGGCTGC	0.488																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1876-1878)gtfs		unc-5 homolog D (C. elegans)							237	200	213					8																	35608248		2203	4300	6503	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608248delT	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.2084delT	8.37:g.35608248delT	ENSP00000385143:p.Val695fs					UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs	p.V626fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1897	+			695			ZU5.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.1877delT	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			9	876						9	876	---	---	---	---	-	35608248	T	-	35608248	7	5	102	1	0	1	0	1	0	0	0	0	17049	1725	60	0	2134	0	UNC5D	8	35608248	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	4662871	35608248	110755774	144	34999											
PRKDC	5591	broad.mit.edu	37	chr8	48691183	48691183	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggagcggagcgccaggAaagcctcagggcttgtactc	16	10	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:48691183A>C	ENST00000314191.2	-	84	11743	c.11687T>G	c.(11686-11688)tTc>tGc	p.F3896C	PRKDC_ENST00000338368.3_Missense_Mutation_p.F3865C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3897	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGCGCCAGGAAAGCCTCAGG	0.562								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11686-11688)tTc>tGc	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							38	38	38					8																	48691183		1976	4152	6128	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48691183A>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11687T>G	8.37:g.48691183A>C	ENSP00000313420:p.Phe3896Cys					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3865C	p.F3896C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			84	11743	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3897			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.11687T>G		.	.	.	.	.	.	.	.	.	.	A	18.53	3.644011	0.67244	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	D;D	0.83250	-1.7;-1.7	5.52	5.52	0.82312	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.987	D	0.94371	0.7596	10	0.87932	D	0	.	15.6454	0.77046	1.0:0.0:0.0:0.0	.	3865;3897	E7EUY0;P78527	.;PRKDC_HUMAN	C	3896;3865	ENSP00000313420:F3896C;ENSP00000345182:F3865C	ENSP00000313420:F3896C	F	-	2	0	PRKDC	48853736	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	8.843000	0.92142	2.084000	0.62774	0.533000	0.62120	TTC		0.562	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		27	110	0	0	0	1	0	27	110					C	48691183	A	C	48691183	3	2	102	1	0	0	0	0	1	0	0	0	12568	246	9	4	712	4	PRKDC	8	48691183	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	13082935	48691183	97672839	145	35000											
EFCAB1	79645	broad.mit.edu	37	chr8	49643125	49643125	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttttttcttccaaagatcctCgaagaaacagtgataatcca	5	9	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:49643125C>A	ENST00000262103.3	-	3	373	c.293G>T	c.(292-294)cGa>cTa	p.R98L	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Missense_Mutation_p.R46L|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAAAGATCCTCGAAGAAACAG	0.343																																						ENST00000433756.1																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(136-138)cGa>cTa		EF-hand calcium binding domain 1							115	103	107					8																	49643125		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49643125C>A		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.293G>T	8.37:g.49643125C>A	ENSP00000262103:p.Arg98Leu					EFCAB1_ENST00000262103.3_Missense_Mutation_p.R98L|EFCAB1_ENST00000523092.1_Missense_Mutation_p.R46L|EFCAB1_ENST00000521002.1_Intron	p.R46L	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN			2	296	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	98					B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.137G>T	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489315	0.84962	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.68025	-0.3;-0.29;-0.3	4.44	4.44	0.53790	EF-hand-like domain (1);	0.060216	0.64402	D	0.000002	D	0.84638	0.5516	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.962	D	0.88273	0.2931	10	0.87932	D	0	.	14.9317	0.70919	0.0:1.0:0.0:0.0	.	46;98	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	L	46;98;98;46	ENSP00000400873:R46L;ENSP00000262103:R98L;ENSP00000430765:R46L	ENSP00000262103:R98L	R	-	2	0	EFCAB1	49805678	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.789000	0.75110	2.441000	0.82636	0.563000	0.77884	CGA		0.343	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		21	137	1	0	7.45023e-12	1	7.95289e-12	21	137					A	49643125	C	A	49643125	3	1	102	1	0	0	0	0	1	0	0	0	4949	884	31	3	358	3	EFCAB1	8	49643125	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	951942	49643125	96720897	146	35001											
TERF1	7013	broad.mit.edu	37	chr8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-													aggtgcaggtgggggcccccGaggaggaggaggaggaggag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(163-165)del		telomeric repeat binding factor (NIMA-interacting) 1																																				SO:0001651	inframe_deletion	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921284_73921286delGAG	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del					TERF1_ENST00000276603.5_In_Frame_Del_p.E62del	p.E62del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	186_188	+	Breast(64;0.218)		62			Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	ENST00000276603.5	37	c.163_165delGAG	CCDS6211.1																																																																																				0.65	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		7	107						7	107	---	---	---	---	-	73921286	GAG	-	73921284	7	5	102	1	0	1	0	1	0	0	0	0	15813	1059	37	0	165	0	TERF1	8	73921284	In_Frame_Del	DEL	GAG	TCGA-LB-A7SX-01A-11D-A33T-08	24278159	73921284	72442738	147	35002											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885210	88885210	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tagcagtcctggcccacggcCgccacgactccttcttcttc	8	18	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:88885210C>A	ENST00000319675.3	-	1	1086	c.990G>T	c.(988-990)gcG>gcT	p.A330A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	330										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						GGCCCACGGCCGCCACGACTC	0.567																																						ENST00000319675.3																			0				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						c.(988-990)gcG>gcT		DDB1 and CUL4 associated factor 4-like 2							78	82	80					8																	88885210		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885210C>A	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.990G>T	8.37:g.88885210C>A							p.A330A	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	1086	-			330						Silent	SNP	ENST00000319675.3	37	c.990G>T	CCDS6245.1																																																																																				0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		12	408	1	0	2.27111e-07	1	2.38979e-07	12	408					A	88885210	C	A	88885210	2	1	102	1	0	0	0	0	0	0	0	1	4283	639	23	3		3	DCAF4L2	8	88885210	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	14963926	88885210	57478812	148	35003											
KIAA1429	25962	broad.mit.edu	37	chr8	95538657	95538657	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccatatccatagaagcttcCacctcattttcatattctgg	4	12	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:95538657C>T	ENST00000297591.5	-	8	1890	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	KIAA1429_ENST00000437199.1_Silent_p.V605V|KIAA1429_ENST00000421249.2_Silent_p.V605V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	605					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)			TAGAAGCTTCCACCTCATTTT	0.383																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1813-1815)gtG>gtA		KIAA1429							152	144	147					8																	95538657		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538657C>T	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.1815G>A	8.37:g.95538657C>T						KIAA1429_ENST00000437199.1_Silent_p.V605V|KIAA1429_ENST00000421249.2_Silent_p.V605V	p.V605V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1890	-	Breast(36;3.29e-05)		605					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.1815G>A	CCDS34923.1																																																																																				0.383	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		38	700	0	0	0	1	0	38	700					T	95538657	C	T	95538657	2	4	102	1	0	0	0	0	0	0	0	1	8261	581	21	2		2	KIAA1429	8	95538657	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6653447	95538657	50825365	149	35004											
FBXO43	286151	broad.mit.edu	37	chr8	101153416	101153416	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtttctgcagtagttcttGaaaagaaccctcctggtcag	9	9	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:101153416G>A	ENST00000428847.2	-	2	1382	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	356					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)			AGTAGTTCTTGAAAAGAACCC	0.463																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1066-1068)Caa>Taa		F-box protein 43							121	113	116					8																	101153416		1860	4094	5954	SO:0001587	stop_gained	286151				meiosis		zinc ion binding	g.chr8:101153416G>A	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.1066C>T	8.37:g.101153416G>A	ENSP00000403293:p.Gln356*						p.Q356*	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	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)		2	1382	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		356						Nonsense_Mutation	SNP	ENST00000428847.2	37	c.1066C>T	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	37	6.453024	0.97581	.	.	ENSG00000156509	ENST00000428847	.	.	.	5.57	4.68	0.58851	.	0.342235	0.34314	N	0.004079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-1.0291	16.6488	0.85183	0.0:0.13:0.87:0.0	.	.	.	.	X	356	.	ENSP00000403293:Q356X	Q	-	1	0	FBXO43	101222592	1.000000	0.71417	0.989000	0.46669	0.445000	0.32107	7.277000	0.78572	1.444000	0.47605	0.655000	0.94253	CAA		0.463	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		156	440	0	0	0	1	0	156	440					A	101153416	G	A	101153416	4	1	102	1	0	0	0	0	0	1	0	0	5777	1299	45	2	1076	2	FBXO43	8	101153416	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5614759	101153416	45210606	150	35005											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatcaagggtgatgaccGttatgctatttattttagcc	8	8	1	2	rs202180175		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					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)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15914	0.0		0.001	False		,,,				2504	0.0					ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1237-1239)cGt>cAt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G	HIS/ARG	1,3703		0,1,1851	187	176	180		1238	3.6	1	8		180	12,8170		0,12,4079	yes	missense	PKHD1L1	NM_177531.4	29	0,13,5930	AA,AG,GG		0.1467,0.027,0.1094	probably-damaging	413/4244	110412530	13,11873	1852	4091	5943	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412530G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1238G>A	8.37:g.110412530G>A	ENSP00000367655:p.Arg413His	HNSCC(38;0.096)					p.R413H	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1342	+			413					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1238G>A	CCDS47911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.68	3.871981	0.72180	2.7E-4	0.001467	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	5.42	3.63	0.41609	PA14 (1);	0.162251	0.41605	N	0.000845	T	0.72692	0.3492	L	0.39020	1.185	0.32838	D	0.504912	D	0.55385	0.971	P	0.50405	0.64	T	0.77381	-0.2609	10	0.62326	D	0.03	.	7.4721	0.27355	0.2644:0.0:0.7356:0.0	.	413	Q86WI1	PKHL1_HUMAN	H	413	ENSP00000367655:R413H	ENSP00000367655:R413H	R	+	2	0	PKHD1L1	110481706	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.601000	0.54059	0.661000	0.30985	-0.253000	0.11424	CGT		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		7	682	0	0	0	1	0	7	682					A	110412530	G	A	110412530	3	1	102	1	0	0	0	0	1	0	0	0	12014	1145	40	1	1288	1	PKHD1L1	8	110412530	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	9259114	110412530	35951492	151	35006											
TRMT12	55039	broad.mit.edu	37	chr8	125463295	125463295	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atctccagaggcagaaactcTttgatacacagcaccgtgtg	9	11	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:125463295T>G	ENST00000328599.3	+	1	248	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	43					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)			GCAGAAACTCTTTGATACACA	0.557																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(127-129)Ttt>Gtt		tRNA methyltransferase 12 homolog (S. cerevisiae)							83	85	85					8																	125463295		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463295T>G	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.127T>G	8.37:g.125463295T>G	ENSP00000329858:p.Phe43Val					TRMT12_ENST00000521443.1_3'UTR	p.F43V	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	248	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		43					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.127T>G	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.980463	0.34942	.	.	ENSG00000183665	ENST00000328599	T	0.40225	1.04	5.14	-3.63	0.04529	.	0.071623	0.56097	D	0.000028	T	0.17450	0.0419	N	0.08118	0	0.24462	N	0.994434	B	0.12630	0.006	B	0.06405	0.002	T	0.06303	-1.0834	10	0.66056	D	0.02	-6.7128	6.8676	0.24102	0.0:0.362:0.1226:0.5154	.	43	Q53H54	TYW2_HUMAN	V	43	ENSP00000329858:F43V	ENSP00000329858:F43V	F	+	1	0	TRMT12	125532476	0.057000	0.20700	0.842000	0.33263	0.587000	0.36485	-0.847000	0.04331	-0.876000	0.04017	-0.375000	0.07067	TTT		0.557	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		6	353	0	0	0	1	0	6	353					G	125463295	T	G	125463295	3	3	102	1	0	0	0	0	1	0	0	0	16617	1609	56	4	129	4	TRMT12	8	125463295	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	15050765	125463295	20900727	152	35007											
CYP11B1	1584	broad.mit.edu	37	chr8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-													cccgggcctgctcacatggtGcagcagcagcagcatctctg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del	CYP11B1_ENST00000377675.3_In_Frame_Del_p.L535del|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCACATGGTGCAGCAGCAGCAG	0.68									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1390-1395)cac>c		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)																																			SO:0001651	inframe_deletion	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956378_143956380delGCA	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1391_1393delTGC	8.37:g.143956387_143956389delGCA	ENSP00000292427:p.Leu464del					CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del	p.LH464del	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1423_1425	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		464					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	In_Frame_Del	DEL	ENST00000292427.4	37	c.1391_1393delTGC	CCDS6392.1																																																																																				0.68	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			8	538						8	538	---	---	---	---	-	143956380	GCA	-	143956378	7	5	102	1	0	1	0	1	0	0	0	0	4156	1319	46	0	126	0	CYP11B1	8	143956378	In_Frame_Del	DEL	GCA	TCGA-LB-A7SX-01A-11D-A33T-08	18493083	143956378	2407644	153	35008											
CYP11B1	1584	broad.mit.edu	37	chr8	143958530	143958530	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcttcttcagggcctgggaGaagtccctggccactgcatc	11	13	3	1	rs199819891	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:143958530G>A	ENST00000292427.4	-	3	536	c.504C>T	c.(502-504)ttC>ttT	p.F168F	CYP11B1_ENST00000377675.3_Silent_p.F239F|CYP11B1_ENST00000517471.1_Silent_p.F168F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	168					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGGCCTGGGAGAAGTCCCTGG	0.612									Familial Hyperaldosteronism type I				.|||	2	0.000399361	0.0	0.0014	5008	,	,		20092	0.0		0.001	False		,,,				2504	0.0					ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(502-504)ttC>ttT		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						48	44	45					8																	143958530		2203	4298	6501	SO:0001819	synonymous_variant	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143958530G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.504C>T	8.37:g.143958530G>A						CYP11B1_ENST00000517471.1_Silent_p.F168F|CYP11B1_ENST00000377675.3_Silent_p.F239F	p.F168F	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			3	536	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		168					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.504C>T	CCDS6392.1																																																																																				0.612	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			5	247	0	0	0	1	0	5	247					A	143958530	G	A	143958530	2	1	102	1	0	0	0	0	0	0	0	1	4156	933	33	2		2	CYP11B1	8	143958530	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2152	143958530	2405492	154	35009											
GRINA	2907	broad.mit.edu	37	chr8	145066090	145066090	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcggtgaccctgtccacGgtgtctgtgttcacttttgt	11	11	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr8:145066090G>C	ENST00000313269.5	+	4	815	c.537G>C	c.(535-537)acG>acC	p.T179T	GRINA_ENST00000395068.4_Silent_p.T179T	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	179						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)			CCCTGTCCACGGTGTCTGTGT	0.572																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(535-537)acG>acC		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							224	218	220					8																	145066090		2203	4300	6503	SO:0001819	synonymous_variant	2907					integral to membrane		g.chr8:145066090G>C	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.537G>C	8.37:g.145066090G>C						GRINA_ENST00000395068.4_Silent_p.T179T	p.T179T	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	815	+	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)		179					B3KXM7|O43836|Q8IVW7	Silent	SNP	ENST00000313269.5	37	c.537G>C	CCDS34961.1	.	.	.	.	.	.	.	.	.	.	G	9.085	1.000167	0.19121	.	.	ENSG00000178719	ENST00000534791;ENST00000527194	.	.	.	4.7	-4.37	0.03633	.	.	.	.	.	T	0.38506	0.1043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36817	-0.9732	4	.	.	.	-16.3463	2.2111	0.03948	0.1049:0.2036:0.2433:0.4482	.	.	.	.	R	103;35	.	.	G	+	1	0	GRINA	145138078	0.001000	0.12720	0.911000	0.35937	0.983000	0.72400	-1.702000	0.01901	-0.701000	0.05063	0.650000	0.86243	GGT		0.572	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		194	690	0	0	0	1	0	194	690					C	145066090	G	C	145066090	2	2	102	1	0	0	0	0	0	0	0	1	6815	1103	39	5		5	GRINA	8	145066090	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1107560	145066090	1297932	155	35010											
PTPRD	5789	broad.mit.edu	37	chr9	8341947	8341947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctaacatggcatctatgaCgatgaagcaaccagtccggc	9	11	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:8341947C>T	ENST00000381196.4	-	37	5236	c.4693G>A	c.(4693-4695)Gtc>Atc	p.V1565I	PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1155I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1565	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)	p.V1565I(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)		GCATCTATGACGATGAAGCAA	0.358										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.V1565I(1)	skin(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						c.(4693-4695)Gtc>Atc		protein tyrosine phosphatase, receptor type, D							67	67	67					9																	8341947		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341947C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4693G>A	9.37:g.8341947C>T	ENSP00000370593:p.Val1565Ile	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.V1565I|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1552I|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1155I|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1543I|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1158I|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1565I|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1158I|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1155I|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1159I|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1158I	p.V1565I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	37	5236	-		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)	1565			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4693G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619525	0.46736	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	6.07	5.17	0.71159	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.92367	3.3	0.58432	D	0.999999	B;B;B;B;D;B;D;P;D	0.89917	0.137;0.137;0.137;0.137;0.979;0.113;1.0;0.918;1.0	B;B;B;B;P;B;D;B;D	0.74348	0.047;0.047;0.047;0.047;0.532;0.028;0.983;0.38;0.981	T	0.75895	-0.3156	9	.	.	.	.	16.7686	0.85531	0.1302:0.8698:0.0:0.0	.	1158;1149;1158;1159;1155;1155;1552;1565;1565	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1565;1565;1552;1543;1159;1158;1155;1155;1036;1565;1158;1158	ENSP00000370593:V1565I;ENSP00000348812:V1565I;ENSP00000353187:V1552I;ENSP00000351293:V1543I;ENSP00000347373:V1159I;ENSP00000380741:V1158I;ENSP00000380735:V1155I;ENSP00000440515:V1155I;ENSP00000438164:V1565I;ENSP00000417093:V1158I;ENSP00000380731:V1158I	.	V	-	1	0	PTPRD	8331947	1.000000	0.71417	0.996000	0.52242	0.011000	0.07611	7.445000	0.80570	1.559000	0.49555	-0.181000	0.13052	GTC		0.358	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			10	267	0	0	0	1	0	10	267					T	8341947	C	T	8341947	3	4	102	1	0	0	0	0	1	0	0	0	12849	536	19	1	1073	1	PTPRD	9	8341947	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		8341947	132871484	156	35011											
FAM75C1	441452	broad.mit.edu	37	chr9	90535452	90535452	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcctagaacgcccctcaccCgagccacctgcacttttccc	5	21	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:90535452C>T	ENST00000602681.1	+	0	1356							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCCTCACCCGAGCCACCTG	0.632																																						ENST00000602681.1																			0																				78	70	73					9																	90535452		692	1591	2283			0							g.chr9:90535452C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535452C>T														0	1356	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.632	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		93	1120	0	0	0	1	0	93	1120					T	90535452	C	T	90535452	1	4	102	0	1	0	0	0	0	0	0	0	5648	639	23	1		1	FAM75C1	9	90535452	RNA	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	82193505	90535452	50677979	157	35012											
C9orf102	375748	broad.mit.edu	37	chr9	98678635	98678635	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaaaggccatgcaaagActtgccaaaaagatgtctgg	12	9	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:98678635A>G	ENST00000288985.7	+	6	1415	c.1110A>G	c.(1108-1110)agA>agG	p.R370R	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.R181R	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	370					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CCATGCAAAGACTTGCCAAAA	0.483																																						ENST00000288985.7																			0											c.(1108-1110)agA>agG		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							65	69	68					9																	98678635		2203	4300	6503	SO:0001819	synonymous_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678635A>G	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1110A>G	9.37:g.98678635A>G						ERCC6L2_ENST00000437817.1_Silent_p.R181R|ERCC6L2_ENST00000466840.1_3'UTR	p.R370R	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			6	1415	+			370					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Silent	SNP	ENST00000288985.7	37	c.1110A>G	CCDS35072.1																																																																																				0.483	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895		9	290	0	0	0	1	0	9	290					G	98678635	A	G	98678635	2	3	102	1	0	0	0	0	0	0	0	1	2452	272	10	4		4	C9orf102	9	98678635	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	8143183	98678635	42534796	158	35013											
TMOD1	7111	broad.mit.edu	37	chr9	100315607	100315607	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agccactggatcctgtgctgGaaagtgtgacgctggaaccg	14	10	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:100315607G>T	ENST00000259365.4	+	4	535	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	TMOD1_ENST00000395211.2_Nonsense_Mutation_p.E108*|TMOD1_ENST00000375175.1_5'Flank	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	108	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCCTGTGCTGGAAAGTGTGAC	0.547																																						ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(322-324)Gaa>Taa		tropomodulin 1							123	109	114					9																	100315607		2203	4300	6503	SO:0001587	stop_gained	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100315607G>T		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.322G>T	9.37:g.100315607G>T	ENSP00000259365:p.Glu108*					TMOD1_ENST00000259365.3_Nonsense_Mutation_p.E108*	p.E108*	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	4	458	+		Acute lymphoblastic leukemia(62;0.154)	108			Tropomyosin-binding (Potential).		B2RB77|Q5T7W3|Q9BUF1	Nonsense_Mutation	SNP	ENST00000259365.4	37	c.322G>T	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812661	0.97857	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.9265	18.6707	0.91510	0.0:0.0:1.0:0.0	.	.	.	.	X	108	.	ENSP00000259365:E108X	E	+	1	0	TMOD1	99355428	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	9.682000	0.98655	2.582000	0.87167	0.655000	0.94253	GAA		0.547	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		6	350	1	0	0.00116845	1	0.00118178	6	350					T	100315607	G	T	100315607	4	4	102	1	0	0	0	0	0	1	0	0	16285	1175	41	3	332	3	TMOD1	9	100315607	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1636972	100315607	40897824	159	35014											
OR13C2	392376	broad.mit.edu	37	chr9	107367328	107367328	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caagcatgatgaactcattgTctgagatgtcagcacaggcc	10	10	3	3	rs74954118		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:107367328T>C	ENST00000542196.1	-	1	623	c.581A>G	c.(580-582)gAc>gGc	p.D194G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	194						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						GAACTCATTGTCTGAGATGTC	0.388																																						ENST00000542196.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(580-582)gAc>gGc		olfactory receptor, family 13, subfamily C, member 2							158	152	154					9																	107367328		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367328T>C		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.581A>G	9.37:g.107367328T>C	ENSP00000438815:p.Asp194Gly						p.D194G	NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN			1	623	-			194					B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.581A>G	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	T	5.601	0.295593	0.10622	.	.	ENSG00000257019	ENST00000542196	T	0.00076	8.76	3.52	-3.12	0.05282	GPCR, rhodopsin-like superfamily (1);	0.807899	0.10032	N	0.724612	T	0.00073	0.0002	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01337	-1.1381	10	0.26408	T	0.33	.	3.4954	0.07653	0.4312:0.2306:0.0:0.3382	.	194	Q8NGS9	O13C2_HUMAN	G	194	ENSP00000438815:D194G	ENSP00000438815:D194G	D	-	2	0	OR13C2	106407149	0.000000	0.05858	0.006000	0.13384	0.702000	0.40608	-0.856000	0.04290	-0.430000	0.07318	-0.415000	0.06103	GAC		0.388	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2	NM_001004481		18	568	0	0	0	1	0	18	568					C	107367328	T	C	107367328	3	2	102	1	0	0	0	0	1	0	0	0	10976	1667	58	4	378	4	OR13C2	9	107367328	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	7051721	107367328	33846103	160	35015											
PTGS1	5742	broad.mit.edu	37	chr9	125140262	125140262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgtgactgcacccGcacgggctattccggcccca	10	17	0	1	rs200993905		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:125140262G>A	ENST00000362012.2	+	3	184	c.179G>A	c.(178-180)cGc>cAc	p.R60H	PTGS1_ENST00000223423.4_Missense_Mutation_p.R60H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R35H|PTGS1_ENST00000373698.5_5'UTR	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)	60	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	GACTGCACCCGCACGGGCTAT	0.602																																						ENST00000362012.2																			0				large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8						c.(178-180)cGc>cAc		prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						113	99	104					9																	125140262		2203	4300	6503	SO:0001583	missense	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125140262G>A	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.179G>A	9.37:g.125140262G>A	ENSP00000354612:p.Arg60His					PTGS1_ENST00000373698.5_5'UTR|PTGS1_ENST00000223423.4_Missense_Mutation_p.R60H|PTGS1_ENST00000540753.1_Missense_Mutation_p.R35H	p.R60H	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN			3	184	+			60			EGF-like.		A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	ENST00000362012.2	37	c.179G>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061326	0.76187	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423	T;T;T	0.69306	-0.39;-0.39;-0.39	5.7	4.81	0.61882	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.049311	0.85682	N	0.000000	T	0.60689	0.2288	L	0.52905	1.665	0.80722	D	1	B;B;P	0.35527	0.241;0.339;0.507	B;B;B	0.32022	0.066;0.036;0.139	T	0.63409	-0.6644	10	0.54805	T	0.06	-21.2899	13.4388	0.61101	0.0746:0.0:0.9254:0.0	.	35;60;60	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	H	35;60;60	ENSP00000437709:R35H;ENSP00000354612:R60H;ENSP00000223423:R60H	ENSP00000223423:R60H	R	+	2	0	PTGS1	124180083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.799000	0.69101	1.413000	0.46997	0.655000	0.94253	CGC		0.602	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			5	327	0	0	0	1	0	5	327					A	125140262	G	A	125140262	3	1	102	1	0	0	0	0	1	0	0	0	12803	1087	38	1	189	1	PTGS1	9	125140262	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17772934	125140262	16073169	161	35016											
GTF3C5	9328	broad.mit.edu	37	chr9	135933322	135933322	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggacttcaagccatccgaCggcagtgaaaacgaaatgga	12	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr9:135933322C>T	ENST00000372097.5	+	11	1838	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	GTF3C5_ENST00000372099.6_Silent_p.D496D|GTF3C5_ENST00000372108.5_Silent_p.D512D|GTF3C5_ENST00000342018.8_Silent_p.D443D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	505	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)		AGCCATCCGACGGCAGTGAAA	0.582																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(1513-1515)gaC>gaT		general transcription factor IIIC, polypeptide 5, 63kDa							114	95	101					9																	135933322		2203	4300	6503	SO:0001819	synonymous_variant	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135933322C>T	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.1515C>T	9.37:g.135933322C>T						GTF3C5_ENST00000372108.5_Silent_p.D512D|GTF3C5_ENST00000372099.6_Silent_p.D496D|GTF3C5_ENST00000342018.8_Silent_p.D443D	p.D505D	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	11	1838	+			505			Glu-rich.		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	c.1515C>T	CCDS6958.1																																																																																				0.582	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		5	339	0	0	0	1	0	5	339					T	135933322	C	T	135933322	2	4	102	1	0	0	0	0	0	0	0	1	6906	535	19	1		1	GTF3C5	9	135933322	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10793060	135933322	5280109	162	35017											
GDI2	2665	broad.mit.edu	37	chr10	5810230	5810230	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatctggcaggagttggcatCattggtgttcttgatggggt	16	5	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:5810230C>T	ENST00000380191.4	-	8	1227	c.937G>A	c.(937-939)Gat>Aat	p.D313N	GDI2_ENST00000380132.4_Missense_Mutation_p.D317N|GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380181.3_Missense_Mutation_p.D268N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	313					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						GAGTTGGCATCATTGGTGTTC	0.453																																						ENST00000380191.4																			0				NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						c.(937-939)Gat>Aat		GDP dissociation inhibitor 2							141	134	137					10																	5810230		2203	4297	6500	SO:0001583	missense	2665				protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity	g.chr10:5810230C>T	D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.937G>A	10.37:g.5810230C>T	ENSP00000369538:p.Asp313Asn					GDI2_ENST00000479928.1_5'UTR|GDI2_ENST00000380132.4_Missense_Mutation_p.D317N|GDI2_ENST00000380181.3_Missense_Mutation_p.D268N	p.D313N	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN			8	1227	-			313					O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	ENST00000380191.4	37	c.937G>A	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583007	0.46006	.	.	ENSG00000057608	ENST00000380191;ENST00000380153;ENST00000447751;ENST00000380132;ENST00000380181	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.84	5.84	0.93424	.	0.042131	0.85682	D	0.000000	T	0.81079	0.4748	N	0.17922	0.545	0.80722	D	1	B;B;B	0.14805	0.001;0.011;0.0	B;B;B	0.24269	0.012;0.052;0.008	T	0.73675	-0.3908	10	0.22109	T	0.4	-34.1661	19.7341	0.96195	0.0:1.0:0.0:0.0	.	317;268;313	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	N	313;146;141;317;268	ENSP00000369538:D313N;ENSP00000387565:D141N;ENSP00000369475:D317N;ENSP00000369528:D268N	ENSP00000369475:D317N	D	-	1	0	GDI2	5850236	1.000000	0.71417	0.969000	0.41365	0.856000	0.48823	6.019000	0.70818	2.764000	0.94973	0.655000	0.94253	GAT		0.453	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	NM_001494		94	358	0	0	0	1	0	94	358					T	5810230	C	T	5810230	3	4	102	1	0	0	0	0	1	0	0	0	6350	826	29	2	416	2	GDI2	10	5810230	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		5810230	129724517	163	35018											
ITIH5	80760	broad.mit.edu	37	chr10	7618801	7618801	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttcttactgttgctggcGgtgacctccacgtgcaggtg	12	10	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:7618801G>A	ENST00000256861.6	-	10	1671	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	ITIH5_ENST00000397146.2_Silent_p.T531T|ITIH5_ENST00000397145.2_Silent_p.T531T|ITIH5_ENST00000446830.2_Silent_p.T313T|ITIH5_ENST00000298441.6_Silent_p.T317T|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	531					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						TGTTGCTGGCGGTGACCTCCA	0.572																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1591-1593)acC>acT		inter-alpha-trypsin inhibitor heavy chain family, member 5							90	82	85					10																	7618801		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618801G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1593C>T	10.37:g.7618801G>A						ITIH5_ENST00000298441.6_Silent_p.T317T|ITIH5_ENST00000397145.2_Silent_p.T531T|ITIH5_ENST00000397146.2_Silent_p.T531T|ITIH5_ENST00000446830.2_Silent_p.T313T|ITIH5_ENST00000434980.1_5'UTR	p.T531T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1671	-			531					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1593C>T																																																																																					0.572	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		5	445	0	0	0	1	0	5	445					A	7618801	G	A	7618801	2	1	102	1	0	0	0	0	0	0	0	1	7937	1103	39	1		1	ITIH5	10	7618801	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1808571	7618801	127915946	164	35019											
OLAH	55301	broad.mit.edu	37	chr10	15103848	15103848	+	Frame_Shift_Del	DEL	T	T	-													tccaggataaaccatttgcaTtttttggccacaggtatttg					rs138615083	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:15103848delT	ENST00000378228.3	+	4	543	c.289delT	c.(289-291)tttfs	p.F98fs	OLAH_ENST00000378217.3_Frame_Shift_Del_p.F151fs	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	98					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						ACCATTTGCATTTTTTGGCCA	0.368																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(448-450)ttfs		oleoyl-ACP hydrolase							154	152	152					10																	15103848		2203	4300	6503	SO:0001589	frameshift_variant	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15103848delT	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.289delT	10.37:g.15103848delT	ENSP00000367473:p.Phe98fs					OLAH_ENST00000378228.3_Frame_Shift_Del_p.F98fs	p.F151fs	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			5	635	+			98					Q5VUB6|Q9NUW1	Frame_Shift_Del	DEL	ENST00000378228.3	37	c.448delT	CCDS31152.1																																																																																				0.368	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		8	1003						8	1003	---	---	---	---	-	15103848	T	-	15103848	7	5	102	1	0	1	0	1	0	0	0	0	10893	1493	52	0	462	0	OLAH	10	15103848	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	7485047	15103848	120430899	165	35020											
KIF5B	3799	broad.mit.edu	37	chr10	32310006	32310006	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcatctctcaaactactGatctgtttttgatgagtttc	5	9	4	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:32310006G>A	ENST00000302418.4	-	19	2605	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	716					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)				TCAAACTACTGATCTGTTTTT	0.358			T	"RET, ALK"	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"RET, ALK"		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(2146-2148)atC>atT		kinesin family member 5B							175	168	171					10																	32310006		2202	4299	6501	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32310006G>A	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.2148C>T	10.37:g.32310006G>A						KIF5B_ENST00000493889.1_5'UTR	p.I716I	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			19	2605	-		Prostate(175;0.0137)	716					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.2148C>T	CCDS7171.1																																																																																				0.358	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		18	513	0	0	0	1	0	18	513					A	32310006	G	A	32310006	2	1	102	1	0	0	0	0	0	0	0	1	8336	1280	45	2		2	KIF5B	10	32310006	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17206158	32310006	103224741	166	35021											
C10orf71	118461	broad.mit.edu	37	chr10	50531971	50531971	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agcacgccctggattcagcaGacagccagccagcagagcga	12	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:50531971G>C	ENST00000374144.3	+	3	1669	c.1381G>C	c.(1381-1383)Gac>Cac	p.D461H	C10orf71_ENST00000323868.4_Missense_Mutation_p.D461H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	461			D -> A (in dbSNP:rs45554335). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.							endometrium(1)	1						GGATTCAGCAGACAGCCAGCC	0.542																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1381-1383)Gac>Cac		chromosome 10 open reading frame 71							50	53	52					10																	50531971		2082	4233	6315	SO:0001583	missense	118461							g.chr10:50531971G>C	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.1381G>C	10.37:g.50531971G>C	ENSP00000363259:p.Asp461His					C10orf71_ENST00000323868.4_Missense_Mutation_p.D461H	p.D461H			Q711Q0	CJ071_HUMAN			3	1669	+			461		D -> A (in dbSNP:rs45554335).			A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1381G>C	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	1.808	-0.475281	0.04414	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16897	2.31;3.44	5.3	0.937	0.19494	.	1.161450	0.06649	N	0.762440	T	0.18882	0.0453	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.34601	-0.9822	10	0.72032	D	0.01	.	6.9192	0.24378	0.2294:0.1223:0.6483:0.0	.	461	Q711Q0-3	.	H	461	ENSP00000318713:D461H;ENSP00000363259:D461H	ENSP00000318713:D461H	D	+	1	0	C10orf71	50201977	0.884000	0.30299	0.000000	0.03702	0.001000	0.01503	3.496000	0.53288	-0.096000	0.12329	0.650000	0.86243	GAC		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		77	235	0	0	0	1	0	77	235					C	50531971	G	C	50531971	3	2	102	1	0	0	0	0	1	0	0	0	1619	942	33	5	1383	5	C10orf71	10	50531971	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	18221965	50531971	85002776	167	35022											
PCDH15	65217	broad.mit.edu	37	chr10	56128948	56128948	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcctgtctctcaccaCtattcgcacttcatggtaga	6	13	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:56128948C>A	ENST00000320301.6	-	5	800	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L	PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V136L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	136	Cadherin 1. {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)				TCTCTCACCACTATTCGCACT	0.438										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.(406-408)Gtg>Ttg		protocadherin-related 15							168	127	141					10																	56128948		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56128948C>A	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.406G>T	10.37:g.56128948C>A	ENSP00000322604:p.Val136Leu	HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Missense_Mutation_p.V114L|PCDH15_ENST00000320301.6_Missense_Mutation_p.V136L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V114L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V136L|PCDH15_ENST00000373955.1_Missense_Mutation_p.V136L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V136L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V136L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V136L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V141L|PCDH15_ENST00000395446.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395440.1_Missense_Mutation_p.V136L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V136L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V136L	p.V136L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			5	800	-		Melanoma(3;0.117)|Lung SC(717;0.238)	136			Cadherin 1.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.406G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386402	0.82902	.	.	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	0.57436	0.5;0.55;0.5;0.48;0.5;0.78;0.68;0.4;0.42;0.47;0.41;0.42;0.42;0.48;0.56	5.52	5.52	0.82312	Cadherin (1);Cadherin conserved site (1);	.	.	.	.	T	0.60792	0.2296	N	0.20986	0.625	0.45118	D	0.998131	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.992;0.999;0.998;0.974;0.992;0.998;0.992;0.996;0.994;0.989;0.999;0.999;1.0;1.0;0.999	D;D;D;P;D;D;D;D;D;P;D;D;D;D;D	0.87578	0.989;0.954;0.928;0.809;0.992;0.928;0.989;0.992;0.928;0.874;0.954;0.954;0.998;0.995;0.97	T	0.57207	-0.7851	9	0.27785	T	0.31	.	19.0325	0.92963	0.0:1.0:0.0:0.0	.	114;136;136;141;136;136;136;136;136;136;136;141;136;114;136	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	136;141;136;136;136;136;136;136;136;136;114;114;136;136;141;136;136	ENSP00000363076:V136L;ENSP00000410304:V141L;ENSP00000378826:V136L;ENSP00000378832:V136L;ENSP00000378833:V136L;ENSP00000378829:V136L;ENSP00000378827:V136L;ENSP00000378820:V136L;ENSP00000354950:V136L;ENSP00000378821:V114L;ENSP00000363068:V114L;ENSP00000322604:V136L;ENSP00000378818:V136L;ENSP00000412628:V136L;ENSP00000363066:V136L	ENSP00000322604:V136L	V	-	1	0	PCDH15	55798954	1.000000	0.71417	0.960000	0.40013	0.977000	0.68977	4.754000	0.62191	2.590000	0.87494	0.585000	0.79938	GTG		0.438	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		79	193	1	0	6.11987e-43	1	6.7273e-43	79	193					A	56128948	C	A	56128948	3	1	102	1	0	0	0	0	1	0	0	0	11553	565	20	3	7221	3	PCDH15	10	56128948	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5596977	56128948	79405799	168	35023											
ANK3	288	broad.mit.edu	37	chr10	61831534	61831534	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtttcctcgagaggtggGcataaacctacataactctg	10	10	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:61831534G>A	ENST00000280772.2	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3035					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						CGAGAGGTGGGCATAAACCTA	0.418																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9103-9105)tgC>tgT		ankyrin 3, node of Ranvier (ankyrin G)							79	87	85					10																	61831534		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831534G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9105C>T	10.37:g.61831534G>A						ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.C3035C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9296	-			3035					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.9105C>T	CCDS7258.1																																																																																				0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	712	0	0	0	1	0	6	712					A	61831534	G	A	61831534	2	1	102	1	0	0	0	0	0	0	0	1	622	1195	42	2		2	ANK3	10	61831534	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5702586	61831534	73703213	169	35024											
TACR2	6865	broad.mit.edu	37	chr10	71164771	71164771	+	Silent	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gaggtcgtgggagtcagctcGagcttatcttccttggtggg	16	8	2	0	rs200509825		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71164771G>C	ENST00000373306.4	-	5	1551	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	TACR2_ENST00000373307.1_Silent_p.L124L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	336					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						GAGTCAGCTCGAGCTTATCTT	0.612																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1006-1008)ctC>ctG		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						152	132	139					10																	71164771		2203	4300	6503	SO:0001819	synonymous_variant	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71164771G>C		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.1008C>G	10.37:g.71164771G>C						TACR2_ENST00000373307.1_Silent_p.L124L	p.L336L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			5	1551	-			336					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Silent	SNP	ENST00000373306.4	37	c.1008C>G	CCDS7293.1																																																																																				0.612	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			12	463	0	0	0	1	0	12	463					C	71164771	G	C	71164771	2	2	102	1	0	0	0	0	0	0	0	1	15558	1045	37	5		5	TACR2	10	71164771	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	9333237	71164771	64369976	170	35025											
H2AFY2	55506	broad.mit.edu	37	chr10	71859992	71859992	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaggctgggggaaaAgagttcttggaaacggtaaa	15	3	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:71859992A>C	ENST00000373255.4	+	7	981	c.717A>C	c.(715-717)aaA>aaC	p.K239N	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	239	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTGGGGGAAAAGAGTTCTTGG	0.478																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(715-717)aaA>aaC		H2A histone family, member Y2							51	49	50					10																	71859992		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71859992A>C	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"Histones / Replication-independent"	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.717A>C	10.37:g.71859992A>C	ENSP00000362352:p.Lys239Asn					AIFM2_ENST00000373248.1_Intron	p.K239N	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			7	981	+			239			Macro.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.717A>C	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124489	0.77436	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.24908	1.83;1.83	5.8	-2.77	0.05877	Appr-1-p processing (2);	0.099386	0.64402	D	0.000002	T	0.32164	0.0820	M	0.73372	2.23	0.80722	D	1	P	0.45348	0.856	P	0.48166	0.569	T	0.36407	-0.9749	10	0.87932	D	0	.	11.8874	0.52610	0.612:0.0:0.388:0.0	.	239	Q9P0M6	H2AW_HUMAN	N	239;173;173	ENSP00000362352:K239N;ENSP00000404584:K173N	ENSP00000362352:K239N	K	+	3	2	H2AFY2	71529998	0.598000	0.26882	0.903000	0.35520	0.992000	0.81027	-0.087000	0.11215	-0.424000	0.07382	0.533000	0.62120	AAA		0.478	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		43	109	0	0	0	1	0	43	109					C	71859992	A	C	71859992	3	2	102	1	0	0	0	0	1	0	0	0	6960	69	3	4	739	4	H2AFY2	10	71859992	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	695221	71859992	63674755	171	35026											
KIAA1274	27143	broad.mit.edu	37	chr10	72291202	72291202	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agagcctggagctggccatcCggaaagaggtgaggaccagt	16	9	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:72291202C>T	ENST00000263563.6	+	5	893	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	209						cytosol (GO:0005829)		p.R209W(1)									GCTGGCCATCCGGAAAGAGGT	0.617																																						ENST00000263563.6																			1	Substitution - Missense(1)	p.R209W(1)	lung(1)								c.(625-627)Cgg>Tgg		phosphatase domain containing, paladin 1							49	46	47					10																	72291202		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72291202C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.625C>T	10.37:g.72291202C>T	ENSP00000263563:p.Arg209Trp						p.R209W	NM_014431.2	NP_055246.2					5	893	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.625C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319113	0.81469	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.27720	1.65	5.08	5.08	0.68730	.	0.105715	0.64402	D	0.000006	T	0.59797	0.2220	M	0.80183	2.485	0.58432	D	0.999992	D	0.89917	1.0	D	0.74674	0.984	T	0.64516	-0.6389	10	0.87932	D	0	-27.6121	18.9672	0.92701	0.0:1.0:0.0:0.0	.	209	Q9ULE6	PALD_HUMAN	W	209	ENSP00000263563:R209W	ENSP00000263563:R209W	R	+	1	2	KIAA1274	71961208	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.832000	0.55783	2.736000	0.93811	0.655000	0.94253	CGG		0.617	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		6	242	0	0	0	1	0	6	242					T	72291202	C	T	72291202	3	4	102	1	0	0	0	0	1	0	0	0	8250	643	23	1	639	1	KIAA1274	10	72291202	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	431210	72291202	63243545	172	35027											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	11	7	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59	70	66					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		7	735	0	0	0	1	0	7	735					A	75406859	G	A	75406859	3	1	102	1	0	0	0	0	1	0	0	0	15510	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3115657	75406859	60127888	173	35028											
ZNF503	84858	broad.mit.edu	37	chr10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-													tccaggcagggtctgcaccgCcgcctccgcctccgccgccg					rs533859340|rs374168185	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718														484	0.0966454	0.3336	0.0331	5008	,	,		10238	0.0		0.006	False		,,,				2504	0.0143					ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(70-78)ggc>gg		zinc finger protein 503				455,1781		166,123,829						2.8	0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				SO:0001651	inframe_deletion	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77161101_77161106delCCGCCT	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"Zinc fingers, C2H2-type"	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del					ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			1	558_563	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		24			Gly-rich.		Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	ENST00000372524.4	37	c.72_77delAGGCGG	CCDS7350.1																																																																																				0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		11	14						11	14	---	---	---	---	-	77161106	CCGCCT	-	77161101	7	5	102	1	0	1	0	1	0	0	0	0	18004	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-LB-A7SX-01A-11D-A33T-08	1754242	77161101	58373646	174	35029											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		14	946						14	946	---	---	---	---	-	81070789	CTC	-	81070787	7	5	102	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	3909686	81070787	54463960	175	35030											
SFTPA2	729238	broad.mit.edu	37	chr10	81317082	81317082	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctcccctcggtaccaGttggtgtagtttacaggggt	14	10	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:81317082G>C	ENST00000372325.2	-	6	714	c.630C>G	c.(628-630)aaC>aaG	p.N210K	SFTPA2_ENST00000372327.5_Missense_Mutation_p.N210K	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	210	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTCGGTACCAGTTGGTGTAGT	0.547									Pulmonary Fibrosis, Idiopathic																													ENST00000372325.2																			0				endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9						c.(628-630)aaC>aaG		surfactant protein A2							245	237	240					10																	81317082		2203	4296	6499	SO:0001583	missense	729238	Pulmonary Fibrosis, Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81317082G>C		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.630C>G	10.37:g.81317082G>C	ENSP00000361400:p.Asn210Lys					SFTPA2_ENST00000372327.5_Missense_Mutation_p.N210K	p.N210K	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	714	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		210			C-type lectin.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.630C>G	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	10.22	1.289067	0.23478	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.62364	0.03;0.03	2.81	0.764	0.18465	.	0.067174	0.64402	N	0.000014	T	0.71005	0.3289	M	0.75447	2.3	0.34654	D	0.721943	D	0.89917	1.0	D	0.87578	0.998	T	0.71069	-0.4699	10	0.48119	T	0.1	-13.677	3.3983	0.07313	0.2729:0.2189:0.5082:0.0	.	210	E3VLC8	.	K	210;176;210	ENSP00000361400:N210K;ENSP00000361402:N210K	ENSP00000361400:N210K	N	-	3	2	SFTPA2	80987088	0.986000	0.35501	0.997000	0.53966	0.179000	0.23085	-0.134000	0.10436	-0.099000	0.12263	-0.714000	0.03626	AAC		0.547	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		8	1418	0	0	0	1	0	8	1418					C	81317082	G	C	81317082	3	2	102	1	0	0	0	0	1	0	0	0	14240	1020	36	5	120	5	SFTPA2	10	81317082	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	246295	81317082	54217665	176	35031											
LRIT2	340745	broad.mit.edu	37	chr10	85982052	85982052	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggcctcatattttgtgCcaggaaggaggtcatccaca	12	10	2	0	rs537193806		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:85982052C>T	ENST00000372113.4	-	3	1282	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	LRIT2_ENST00000538192.1_Missense_Mutation_p.G436D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	426	Fibronectin type-III.					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						ATATTTTGTGCCAGGAAGGAG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.0		0.0	False		,,,				2504	0.001					ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(1276-1278)gGc>gAc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							112	108	109					10																	85982052		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982052C>T		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.1277G>A	10.37:g.85982052C>T	ENSP00000361185:p.Gly426Asp					LRIT2_ENST00000538192.1_Missense_Mutation_p.G436D	p.G426D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			3	1282	-			426			Fibronectin type-III.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1277G>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	C	5.913	0.352604	0.11182	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.19394	2.15;2.15	5.04	1.64	0.23874	Fibronectin, type III (1);	0.598328	0.18213	N	0.148127	T	0.13927	0.0337	L	0.44542	1.39	0.21325	N	0.999722	P;P	0.38922	0.651;0.501	B;B	0.30251	0.113;0.08	T	0.13737	-1.0498	10	0.28530	T	0.3	.	10.3486	0.43920	0.126:0.2959:0.578:0.0	.	436;426	B7ZME6;A6NDA9	.;LRIT2_HUMAN	D	426;436	ENSP00000361185:G426D;ENSP00000438264:G436D	ENSP00000361185:G426D	G	-	2	0	LRIT2	85972032	0.913000	0.31002	0.041000	0.18516	0.097000	0.18754	1.588000	0.36633	0.584000	0.29591	-0.300000	0.09419	GGC		0.542	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		7	672	0	0	0	1	0	7	672					T	85982052	C	T	85982052	3	4	102	1	0	0	0	0	1	0	0	0	8986	739	26	2	379	2	LRIT2	10	85982052	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4664970	85982052	49552695	177	35032											
TNKS2	80351	broad.mit.edu	37	chr10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A													tagcatggtgcagaccctacINSaaaaaaaaacagggatggaa							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																						ENST00000371627.4																			1	Deletion - Frameshift(1)	p.N622fs*29(1)	large_intestine(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						c.(1855-1857)aaafs		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2																																				SO:0001589	frameshift_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93601945_93601946insA	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs						p.K619fs	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			16	2235_2236	+		Colorectal(252;0.162)	619					B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	ENST00000371627.4	37	c.1856_1857insA	CCDS7417.1																																																																																				0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		11	285						11	285	---	---	---	---	A	93601946	-	A	93601945	7	5	102	1	0	1	1	0	0	0	0	0	16373	478	17	0	1918	0	TNKS2	10	93601945	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	7619893	93601945	41932802	178	35033											
C10orf28	27291	broad.mit.edu	37	chr10	100003867	100003867	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagaaagcggttggaagcCaagcaacgggaagacatctg	15	7	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:100003867C>T	ENST00000298999.3	+	10	2592	c.2289C>T	c.(2287-2289)gcC>gcT	p.A763A	R3HCC1L_ENST00000370584.3_Silent_p.A763A|R3HCC1L_ENST00000370586.2_Silent_p.A169A|R3HCC1L_ENST00000314594.5_Silent_p.A179A	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	777							nucleotide binding (GO:0000166)										GGTTGGAAGCCAAGCAACGGG	0.398																																						ENST00000314594.5																			0											c.(535-537)gcC>gcT		R3H domain and coiled-coil containing 1-like							123	112	116					10																	100003867		2203	4300	6503	SO:0001819	synonymous_variant	27291							g.chr10:100003867C>T	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.2289C>T	10.37:g.100003867C>T						R3HCC1L_ENST00000298999.3_Silent_p.A763A|R3HCC1L_ENST00000370584.3_Silent_p.A763A|R3HCC1L_ENST00000370586.2_Silent_p.A169A	p.A179A	NM_001256619.1	NP_001243548.1					11	2634	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Silent	SNP	ENST00000298999.3	37	c.537C>T	CCDS31267.1																																																																																				0.398	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		56	245	0	0	0	1	0	56	245					T	100003867	C	T	100003867	2	4	102	1	0	0	0	0	0	0	0	1	1606	581	21	2		2	C10orf28	10	100003867	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6401922	100003867	35530880	179	35034											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362640	105362640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtctcagctggcgccGtaaagtgctgatgtccatct	13	10	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:105362640G>A	ENST00000369774.4	-	15	2611	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	779					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)		AGCTGGCGCCGTAAAGTGCTG	0.647																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(2335-2337)Cgg>Tgg		SH3 and PX domains 2A							261	251	254					10																	105362640		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105362640G>A	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.2335C>T	10.37:g.105362640G>A	ENSP00000358789:p.Arg779Trp					SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R614W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R751W|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R646W	p.R779W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2611	-		Colorectal(252;0.0815)|Breast(234;0.131)	779					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.2335C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.91|15.91	2.972366|2.972366	0.53614|0.53614	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.65916|.	-0.17;-0.14;0.02;-0.18|.	5.11|5.11	4.18|4.18	0.49190|0.49190	.|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.993;0.993;0.995;0.997|.	T|T	0.60393|0.60393	-0.7272|-0.7272	10|5	0.54805|.	T|.	0.06|.	-25.6182|-25.6182	13.4768|13.4768	0.61314|0.61314	0.0:0.0:0.7006:0.2994|0.0:0.0:0.7006:0.2994	.|.	779;628;624;751|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	W|M	779;751;586;694;646;614|705	ENSP00000358789:R779W;ENSP00000348215:R751W;ENSP00000443663:R646W;ENSP00000441514:R614W|.	ENSP00000318135:R586W|.	R|T	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105352630|105352630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.736000|1.736000	0.38187|0.38187	1.107000|1.107000	0.41642|0.41642	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		8	1570	0	0	0	1	0	8	1570					A	105362640	G	A	105362640	3	1	102	1	0	0	0	0	1	0	0	0	14306	1144	40	1	1070	1	SH3PXD2A	10	105362640	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5358773	105362640	30172107	180	35035											
XPNPEP1	7511	broad.mit.edu	37	chr10	111635301	111635301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttacttgtattgagcacccGagtcaataaggtacacctca	7	11	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:111635301G>A	ENST00000502935.1	-	15	1495	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.S416L|XPNPEP1_ENST00000322238.8_Intron					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)		TTGAGCACCCGAGTCAATAAG	0.448																																						ENST00000369680.4																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1246-1248)tCg>tTg		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							123	100	108					10																	111635301		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111635301G>A		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.1376C>T	10.37:g.111635301G>A	ENSP00000421566:p.Ser459Leu					XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.S345L|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.S459L	p.S416L	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	15	1495	-		Breast(234;0.174)	416						Missense_Mutation	SNP	ENST00000502935.1	37	c.1247C>T	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	31	5.070360	0.93950	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000369680	T;T;T	0.74737	-0.87;-0.87;-0.87	5.43	5.43	0.79202	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90341	0.4359	10	0.87932	D	0	-11.0405	17.7889	0.88547	0.0:0.0:1.0:0.0	.	416	Q9NQW7	XPP1_HUMAN	L	459;345;416	ENSP00000421566:S459L;ENSP00000358697:S345L;ENSP00000358694:S416L	ENSP00000358694:S416L	S	-	2	0	XPNPEP1	111625291	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	9.101000	0.94219	2.698000	0.92095	0.655000	0.94253	TCG		0.448	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			11	255	0	0	0	1	0	11	255					A	111635301	G	A	111635301	3	1	102	1	0	0	0	0	1	0	0	0	17496	1059	37	1	652	1	XPNPEP1	10	111635301	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	6272661	111635301	23899446	181	35036											
NHLRC2	374354	broad.mit.edu	37	chr10	115663395	115663395	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gtcaacttttaatgaaccagGaggcttgtgtattggagaga	12	5	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:115663395G>A	ENST00000369301.3	+	9	1816	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	535										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)		AATGAACCAGGAGGCTTGTGT	0.343																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1603-1605)gGa>gAa		NHL repeat containing 2							161	177	172					10																	115663395		2203	4297	6500	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115663395G>A	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.1604G>A	10.37:g.115663395G>A	ENSP00000358307:p.Gly535Glu						p.G535E	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	9	1816	+			535					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1604G>A	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572991	0.86542	.	.	ENSG00000196865	ENST00000369301	T	0.71222	-0.55	5.76	5.76	0.90799	Six-bladed beta-propeller, TolB-like (1);	0.056460	0.64402	D	0.000001	T	0.78966	0.4367	L	0.41415	1.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.74794	-0.3544	10	0.32370	T	0.25	-17.4608	18.5117	0.90918	0.0:0.0:1.0:0.0	.	535	Q8NBF2	NHLC2_HUMAN	E	535	ENSP00000358307:G535E	ENSP00000358307:G535E	G	+	2	0	NHLRC2	115653385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.471000	0.80985	2.871000	0.98454	0.655000	0.94253	GGA		0.343	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		16	1155	0	0	0	1	0	16	1155					A	115663395	G	A	115663395	3	1	102	1	0	0	0	0	1	0	0	0	10448	1174	41	2	1638	2	NHLRC2	10	115663395	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4028094	115663395	19871352	182	35037											
AFAP1L2	84632	broad.mit.edu	37	chr10	116062107	116062107	+	Frame_Shift_Del	DEL	T	T	-													aaattactcacaagagagagTttttggccgcactcacaata							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:116062107delT	ENST00000304129.4	-	12	1450	c.1421delA	c.(1420-1422)aacfs	p.N474fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000491814.1_5'Flank|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.N474fs			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	474					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)		CAAGAGAGAGTTTTTGGCCGC	0.547																																						ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1420-1422)acfs		actin filament associated protein 1-like 2							154	171	165					10																	116062107		2203	4300	6503	SO:0001589	frameshift_variant	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116062107delT	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.1421delA	10.37:g.116062107delT	ENSP00000303042:p.Asn474fs					AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.N527fs|AFAP1L2_ENST00000304129.4_Frame_Shift_Del_p.N474fs	p.N474fs	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	12	1721	-		Colorectal(252;0.175)|Breast(234;0.231)	474					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL	ENST00000304129.4	37	c.1421delA	CCDS31286.1																																																																																				0.547	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		7	1098						7	1098	---	---	---	---	-	116062107	T	-	116062107	7	5	102	1	0	1	0	1	0	0	0	0	355	1725	60	0	1067	0	AFAP1L2	10	116062107	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	398712	116062107	19472640	183	35038											
ABLIM1	3983	broad.mit.edu	37	chr10	116331054	116331054	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgggtcaccggggcacttActgctggagaaggtggtttc	16	8	1	1	rs573606552	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:116331054A>C	ENST00000277895.5	-	4	771		c.e4+1		ABLIM1_ENST00000533213.2_Splice_Site|ABLIM1_ENST00000369252.4_Splice_Site	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1						axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CGGGGCACTTACTGCTGGAGA	0.527																																						ENST00000369252.4																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30						c.e4+1		actin binding LIM protein 1							131	127	128					10																	116331054		2203	4300	6503	SO:0001630	splice_region_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116331054A>C	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.673+1T>G	10.37:g.116331054A>C						ABLIM1_ENST00000277895.5_Splice_Site|ABLIM1_ENST00000533213.2_Splice_Site		NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	4	795	-		Colorectal(252;0.0373)|Breast(234;0.231)						A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Splice_Site	SNP	ENST00000277895.5	37		CCDS7590.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.702615	0.88924	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392955;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0319	0.71713	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABLIM1	116321044	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.069000	0.93967	2.288000	0.76882	0.533000	0.62120	.		0.527	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		Intron	76	337	0	0	0	1	0	76	337					C	116331054	A	C	116331054	5	2	102	1	0	0	0	0	0	0	1	0	94	405	14	4	1825	4	ABLIM1	10	116331054	Splice_Site	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	268947	116331054	19203693	184	35039											
DMBT1	1755	broad.mit.edu	37	chr10	124336080	124336080	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggttgtggctgggccatgtCagctccaggaaatgcctggt	16	9	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr10:124336080C>T	ENST00000338354.3	+	7	555	c.449C>T	c.(448-450)tCa>tTa	p.S150L	DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S150L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	150	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)				TGGGCCATGTCAGCTCCAGGA	0.602																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(448-450)tCa>tTa		deleted in malignant brain tumors 1							150	157	155					10																	124336080		2116	4254	6370	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124336080C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.449C>T	10.37:g.124336080C>T	ENSP00000342210:p.Ser150Leu					DMBT1_ENST00000368955.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S150L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S150L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S150L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S150L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S150L	p.S150L			Q9UGM3	DMBT1_HUMAN			7	555	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	150			SRCR 1.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.449C>T		.	.	.	.	.	.	.	.	.	.	c	15.27	2.782288	0.49891	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.41	2.55	0.30701	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.54351	0.1853	M	0.64260	1.97	0.09310	N	1	P;B;D;B;P;D	0.63046	0.955;0.414;0.961;0.185;0.901;0.992	P;B;P;B;P;D	0.63877	0.684;0.39;0.571;0.052;0.562;0.919	T	0.37911	-0.9685	9	0.51188	T	0.08	.	7.1634	0.25677	0.0:0.7223:0.1365:0.1412	.	150;150;150;150;150;150	F8WEF7;Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	L	150	ENSP00000342210:S150L;ENSP00000343175:S150L;ENSP00000327747:S150L;ENSP00000357905:S150L;ENSP00000357951:S150L;ENSP00000357952:S150L;ENSP00000352593:S150L	ENSP00000331522:S150L	S	+	2	0	DMBT1	124326070	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.257000	0.08745	0.433000	0.26313	-0.766000	0.03442	TCA		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		39	1150	0	0	0	1	0	39	1150					T	124336080	C	T	124336080	3	4	102	1	0	0	0	0	1	0	0	0	4593	838	29	2	475	2	DMBT1	10	124336080	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	8005026	124336080	11198667	185	35040											
OR51B2	79345	broad.mit.edu	37	chr11	5344684	5344684	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gacagggttcattaaaggagGaaagaggaagtagatgtaac	14	3	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5344684G>A	ENST00000328813.2	-	1	898	c.844C>T	c.(844-846)Cct>Tct	p.P282S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)		ATTAAAGGAGGAAAGAGGAAG	0.373																																						ENST00000328813.2																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(844-846)Cct>Tct		olfactory receptor, family 51, subfamily B, member 2							115	107	110					11																	5344684		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344684G>A	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.844C>T	11.37:g.5344684G>A	ENSP00000327540:p.Pro282Ser					HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.P282S	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	898	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	282					Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.844C>T	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185866	0.78789	.	.	ENSG00000184881	ENST00000328813	T	0.35048	1.33	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001743	T	0.66636	0.2809	M	0.90252	3.1	0.45118	D	0.998133	D	0.89917	1.0	D	0.79784	0.993	T	0.75720	-0.3219	10	0.87932	D	0	.	15.8595	0.79012	0.0:0.0:1.0:0.0	.	282	Q9Y5P1	O51B2_HUMAN	S	282	ENSP00000327540:P282S	ENSP00000327540:P282S	P	-	1	0	OR51B2	5301260	1.000000	0.71417	0.897000	0.35233	0.988000	0.76386	5.480000	0.66820	2.306000	0.77630	0.638000	0.83543	CCT		0.373	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		47	311	0	0	0	1	0	47	311					A	5344684	G	A	5344684	3	1	102	1	0	0	0	0	1	0	0	0	11131	1174	41	2	98	2	OR51B2	11	5344684	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		5344684	129661832	186	35041											
OR52N5	390075	broad.mit.edu	37	chr11	5799446	5799446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgagtgtggtagcataaCgcaaagggtagcaaatggct	15	5	0	1	rs144845456	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:5799446C>T	ENST00000317093.2	-	1	451	c.419G>A	c.(418-420)cGt>cAt	p.R140H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140						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)		GGTAGCATAACGCAAAGGGTA	0.502																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(418-420)cGt>cAt		olfactory receptor, family 52, subfamily N, member 5		C	HIS/ARG	0,4256		0,0,2128	137	110	119		419	0.6	0	11	dbSNP_134	119	1,8179		0,1,4089	no	missense	OR52N5	NM_001001922.2	29	0,1,6217	TT,TC,CC		0.0122,0.0,0.0080	possibly-damaging	140/325	5799446	1,12435	2128	4090	6218	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799446C>T	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.419G>A	11.37:g.5799446C>T	ENSP00000322866:p.Arg140His					TRIM5_ENST00000380027.1_Intron	p.R140H	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	451	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	140					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.419G>A	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	8.537	0.872434	0.17322	0.0	1.22E-4	ENSG00000181009	ENST00000317093	T	0.00669	5.9	3.7	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27294	U	0.020040	T	0.00608	0.0020	N	0.21508	0.67	0.23966	N	0.996326	B	0.16166	0.016	B	0.10450	0.005	T	0.47971	-0.9075	10	0.34782	T	0.22	.	5.9492	0.19235	0.0:0.6557:0.1568:0.1875	.	140	Q8NH56	O52N5_HUMAN	H	140	ENSP00000322866:R140H	ENSP00000322866:R140H	R	-	2	0	OR52N5	5756022	0.000000	0.05858	0.025000	0.17156	0.722000	0.41435	-0.692000	0.05127	0.025000	0.15241	0.494000	0.49563	CGT		0.502	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		31	88	0	0	0	1	0	31	88					T	5799446	C	T	5799446	3	4	102	1	0	0	0	0	1	0	0	0	11172	536	19	1	559	1	OR52N5	11	5799446	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	454762	5799446	129207070	187	35042											
MICALCL	84953	broad.mit.edu	37	chr11	12316361	12316361	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcctcctcctcctccTcctcctcctcctcctcctcc	2	26	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:12316361T>C	ENST00000256186.2	+	3	1674	c.1383T>C	c.(1381-1383)ccT>ccC	p.P461P		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	461	Poly-Pro.				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)		ctcctcctcctcctcctcctc	0.582																																						ENST00000256186.2																			0				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						c.(1381-1383)ccT>ccC		MICAL C-terminal like							10	11	10					11																	12316361		1932	4055	5987	SO:0001819	synonymous_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316361T>C	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.1383T>C	11.37:g.12316361T>C							p.P461P	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1674	+			461			Poly-Pro.		Q7RTP7|Q96JU6	Silent	SNP	ENST00000256186.2	37	c.1383T>C	CCDS41620.1																																																																																				0.582	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		6	92	0	0	0	1	0	6	92					C	12316361	T	C	12316361	2	2	102	1	0	0	0	0	0	0	0	1	9613	1538	54	4		4	MICALCL	11	12316361	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	6516915	12316361	122690155	188	35043											
CYP2R1	120227	broad.mit.edu	37	chr11	14913531	14913531	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cccgtcggggctgtacctctCcgtacacctggctctgcttt	10	16	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:14913531C>G	ENST00000334636.5	-	1	267	c.221G>C	c.(220-222)gGa>gCa	p.G74A	CYP2R1_ENST00000532378.1_5'Flank|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	74					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	CTGTACCTCTCCGTACACCTG	0.682																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000334636.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(220-222)gGa>gCa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						23	25	24					11																	14913531		2200	4294	6494	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14913531C>G	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"Cytochrome P450s"	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.221G>C	11.37:g.14913531C>G	ENSP00000334592:p.Gly74Ala						p.G74A	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN			1	267	-			74					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.221G>C	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301978	0.95601	.	.	ENSG00000186104	ENST00000334636	D	0.86230	-2.09	5.12	5.12	0.69794	.	0.053179	0.85682	D	0.000000	D	0.95730	0.8611	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96785	0.9578	10	0.87932	D	0	.	18.7483	0.91802	0.0:1.0:0.0:0.0	.	74	Q6VVX0	CP2R1_HUMAN	A	74	ENSP00000334592:G74A	ENSP00000334592:G74A	G	-	2	0	CYP2R1	14870107	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.224000	0.65288	2.665000	0.90641	0.462000	0.41574	GGA		0.682	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		56	86	0	0	0	1	0	56	86					G	14913531	C	G	14913531	3	3	102	1	0	0	0	0	1	0	0	0	4184	855	30	5	1304	5	CYP2R1	11	14913531	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2597170	14913531	120092985	189	35044											
TSG101	7251	broad.mit.edu	37	chr11	18505562	18505562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcagtttgtcactgaccGcagagatgagagaggctcgg	13	9	2	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:18505562G>A	ENST00000251968.3	-	8	1113	c.698C>T	c.(697-699)gCg>gTg	p.A233V	TSG101_ENST00000357193.3_Missense_Mutation_p.A128V|TSG101_ENST00000536719.1_Missense_Mutation_p.A233V	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	233					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						GTCACTGACCGCAGAGATGAG	0.512																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(697-699)gCg>gTg		tumor susceptibility 101							218	210	213					11																	18505562		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18505562G>A	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.698C>T	11.37:g.18505562G>A	ENSP00000251968:p.Ala233Val					TSG101_ENST00000251968.3_Missense_Mutation_p.A233V|TSG101_ENST00000357193.3_Missense_Mutation_p.A128V	p.A233V			Q99816	TS101_HUMAN			8	832	-			233					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.698C>T	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284683	0.80803	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.22743	1.94;1.94;1.94	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	M	0.68952	2.095	0.80722	D	1	P	0.37731	0.607	B	0.25884	0.064	T	0.07102	-1.0790	10	0.66056	D	0.02	-8.1903	17.7611	0.88465	0.0:0.0:1.0:0.0	.	233	Q99816	TS101_HUMAN	V	233;233;128	ENSP00000438471:A233V;ENSP00000251968:A233V;ENSP00000349721:A128V	ENSP00000251968:A233V	A	-	2	0	TSG101	18462138	1.000000	0.71417	0.978000	0.43139	0.949000	0.60115	9.102000	0.94226	2.629000	0.89072	0.561000	0.74099	GCG		0.512	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		7	928	0	0	0	1	0	7	928					A	18505562	G	A	18505562	3	1	102	1	0	0	0	0	1	0	0	0	16669	1087	38	1	486	1	TSG101	11	18505562	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3592031	18505562	116500954	190	35045											
ABTB2	25841	broad.mit.edu	37	chr11	34182562	34182562	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcaggaggctctgcaccaccGagtaccgcgactgcgagaac	13	14	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:34182562G>A	ENST00000435224.2	-	11	2709	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	ABTB2_ENST00000298992.2_Missense_Mutation_p.S576L	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	762					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)				CTGCACCACCGAGTACCGCGA	0.612																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(2284-2286)tCg>tTg		ankyrin repeat and BTB (POZ) domain containing 2							76	65	69					11																	34182562		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34182562G>A	AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.2285C>T	11.37:g.34182562G>A	ENSP00000410157:p.Ser762Leu					ABTB2_ENST00000298992.2_Missense_Mutation_p.S576L	p.S762L	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			11	2709	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	576					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2285C>T	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314888	0.60524	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60424	0.19;0.19	5.15	5.15	0.70609	.	0.192066	0.46442	D	0.000289	T	0.50514	0.1620	L	0.53249	1.67	0.45852	D	0.998714	P	0.45672	0.864	B	0.31495	0.131	T	0.60652	-0.7221	10	0.54805	T	0.06	-16.6682	18.6197	0.91317	0.0:0.0:1.0:0.0	.	576	Q8N961	ABTB2_HUMAN	L	762;576	ENSP00000410157:S762L;ENSP00000298992:S576L	ENSP00000298992:S576L	S	-	2	0	ABTB2	34139138	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	4.222000	0.58580	2.401000	0.81631	0.561000	0.74099	TCG		0.612	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		5	136	0	0	0	1	0	5	136					A	34182562	G	A	34182562	3	1	102	1	0	0	0	0	1	0	0	0	103	1059	37	1	820	1	ABTB2	11	34182562	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	15677000	34182562	100823954	191	35046											
AGBL2	79841	broad.mit.edu	37	chr11	47721004	47721004	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtaatgacaatacctgaatCtaattgatagacaactgttc	6	7	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:47721004C>A	ENST00000525123.1	-	8	973	c.688G>T	c.(688-690)Gat>Tat	p.D230Y	AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y|AGBL2_ENST00000528244.1_Missense_Mutation_p.D192Y|AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	230						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						ATACCTGAATCTAATTGATAG	0.323																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(688-690)Gat>Tat		ATP/GTP binding protein-like 2							180	168	172					11																	47721004		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47721004C>A		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.688G>T	11.37:g.47721004C>A	ENSP00000435582:p.Asp230Tyr					AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.D192Y|AGBL2_ENST00000298861.4_Missense_Mutation_p.D230Y|AGBL2_ENST00000357610.3_Missense_Mutation_p.D230Y	p.D230Y	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			8	973	-			230					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.688G>T	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240985	0.39598	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.22	4.28	0.50868	.	0.515698	0.23114	N	0.051766	T	0.27419	0.0673	L	0.59436	1.845	0.32047	N	0.597485	B;B;B	0.28208	0.203;0.129;0.129	B;B;B	0.28784	0.094;0.043;0.043	T	0.38887	-0.9640	10	0.72032	D	0.01	-14.9865	4.6077	0.12385	0.0:0.606:0.1987:0.1952	.	192;192;230	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	Y	230;230;230;192;174;174	ENSP00000435582:D230Y;ENSP00000350228:D230Y;ENSP00000298861:D230Y;ENSP00000436630:D192Y;ENSP00000436063:D174Y	ENSP00000298861:D230Y	D	-	1	0	AGBL2	47677580	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	0.984000	0.29565	1.168000	0.42723	0.393000	0.25936	GAT		0.323	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		9	248	1	0	3.09899e-07	1	3.2532e-07	9	248					A	47721004	C	A	47721004	3	1	102	1	0	0	0	0	1	0	0	0	376	913	32	3	2068	3	AGBL2	11	47721004	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	13538442	47721004	87285512	192	35047											
GLYATL2	219970	broad.mit.edu	37	chr11	58605742	58605742	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tattgctcctacctgtttctGaggccgggtaatgacgatct	10	10	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:58605742G>A	ENST00000287275.1	-	3	568	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.Q60*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	60						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)	ACCTGTTTCTGAGGCCGGGTA	0.463																																						ENST00000287275.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23						c.(178-180)Cag>Tag		glycine-N-acyltransferase-like 2	Glycine(DB00145)						93	91	92					11																	58605742		1945	4178	6123	SO:0001587	stop_gained	219970					mitochondrion	glycine N-acyltransferase activity	g.chr11:58605742G>A	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.178C>T	11.37:g.58605742G>A	ENSP00000287275:p.Gln60*					GLYATL2_ENST00000532258.1_Nonsense_Mutation_p.Q60*|GLYATL2_ENST00000533636.1_5'UTR	p.Q60*	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN			3	568	-		Breast(21;0.0044)|all_epithelial(135;0.0216)	60					A5LGC7|Q86WC3|Q96AT2	Nonsense_Mutation	SNP	ENST00000287275.1	37	c.178C>T	CCDS41649.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228702	0.58777	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	.	.	.	3.57	-4.02	0.04034	.	1.412690	0.05610	U	0.578009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	6.2632	0.20912	0.1013:0.0:0.2896:0.6091	.	.	.	.	X	60	.	ENSP00000287275:Q60X	Q	-	1	0	GLYATL2	58362318	0.003000	0.15002	0.002000	0.10522	0.060000	0.15804	-0.092000	0.11129	-0.712000	0.04988	-0.346000	0.07831	CAG		0.463	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394599.1	NM_145016		5	241	0	0	0	1	0	5	241					A	58605742	G	A	58605742	4	1	102	1	0	0	0	0	0	1	0	0	6510	1299	45	2	722	2	GLYATL2	11	58605742	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	10884738	58605742	76400774	193	35048											
ASRGL1	80150	broad.mit.edu	37	chr11	62159721	62159721	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcaagctgcacttcggaattGatcctgacgatactactatc	8	11	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:62159721G>A	ENST00000415229.2	+	7	1107	c.892G>A	c.(892-894)Gat>Aat	p.D298N	ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298N|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	298					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(892-894)Gat>Aat		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						99	85	90					11																	62159721		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62159721G>A		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.892G>A	11.37:g.62159721G>A	ENSP00000400057:p.Asp298Asn		OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1059	CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298N	p.D298N	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			7	1107	+			298					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.892G>A	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	G	7.665	0.685751	0.14973	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.94650	-3.48;-3.48	5.24	0.102	0.14522	.	0.502864	0.23382	N	0.048795	D	0.86781	0.6015	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73733	-0.3890	10	0.31617	T	0.26	-12.1929	3.3361	0.07102	0.3163:0.0:0.3911:0.2926	.	298	Q7L266	ASGL1_HUMAN	N	298	ENSP00000400057:D298N;ENSP00000301776:D298N	ENSP00000301776:D298N	D	+	1	0	ASRGL1	61916297	0.065000	0.20965	0.001000	0.08648	0.066000	0.16364	0.483000	0.22292	0.210000	0.20664	0.655000	0.94253	GAT		0.527	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		72	330	0	0	0	1	0	72	330					A	62159721	G	A	62159721	3	1	102	1	0	0	0	0	1	0	0	0	1061	1290	45	2	914	2	ASRGL1	11	62159721	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3553979	62159721	72846795	194	35049											
SIPA1	6494	broad.mit.edu	37	chr11	65413984	65413984	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccagctctgcctgctggCggaggccccttcgcagccaa	14	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:65413984C>T	ENST00000394224.3	+	8	1775	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	SIPA1_ENST00000527525.1_Silent_p.G493G|SIPA1_ENST00000394227.3_Silent_p.G493G|MIR4489_ENST00000578869.1_RNA|SIPA1_ENST00000534313.1_Silent_p.G493G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	493	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCTGCTGGCGGAGGCCCCT	0.716																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(1477-1479)ggC>ggT		signal-induced proliferation-associated 1							9	8	8					11																	65413984		2172	4265	6437	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65413984C>T	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.1479C>T	11.37:g.65413984C>T						SIPA1_ENST00000394227.3_Silent_p.G493G|SIPA1_ENST00000527525.1_Silent_p.G493G|SIPA1_ENST00000534313.1_Silent_p.G493G	p.G493G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			8	1775	+			493			Rap-GAP.		O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.1479C>T	CCDS8108.1																																																																																				0.716	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		10	73	0	0	0	1	0	10	73					T	65413984	C	T	65413984	2	4	102	1	0	0	0	0	0	0	0	1	14378	755	27	1		1	SIPA1	11	65413984	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3254263	65413984	69592532	195	35050											
ANKRD42	338699	broad.mit.edu	37	chr11	82921451	82921451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttacaaataatgctccGaagtggagtggtgagtgact	11	7	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:82921451G>A	ENST00000393392.2	+	4	518	c.356G>A	c.(355-357)cGa>cAa	p.R119Q	ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000393389.3_Missense_Mutation_p.R147Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	119					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						ATAATGCTCCGAAGTGGAGTG	0.408																																						ENST00000393389.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(439-441)cGa>cAa		ankyrin repeat domain 42							147	143	145					11																	82921451		2203	4300	6503	SO:0001583	missense	338699							g.chr11:82921451G>A	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.356G>A	11.37:g.82921451G>A	ENSP00000377051:p.Arg119Gln					RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000393392.2_Missense_Mutation_p.R119Q|ANKRD42_ENST00000260047.6_Missense_Mutation_p.R147Q|ANKRD42_ENST00000528722.1_Missense_Mutation_p.R34Q|ANKRD42_ENST00000526731.1_Missense_Mutation_p.R147Q|ANKRD42_ENST00000533342.1_Missense_Mutation_p.R147Q	p.R147Q			Q8N9B4	ANR42_HUMAN			4	1372	+			119					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.440G>A	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806293	0.70682	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000528722;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;D;T;T;T;T;T	0.81996	-0.06;-1.56;-0.06;-0.06;-0.06;-0.06;-0.06	5.89	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.112713	0.39615	N	0.001304	T	0.71298	0.3323	N	0.13272	0.32	0.36543	D	0.871416	P;P;P;P;D	0.53745	0.838;0.88;0.927;0.906;0.962	B;B;B;B;B	0.43103	0.319;0.213;0.36;0.408;0.319	T	0.75274	-0.3375	9	.	.	.	-0.8612	14.0266	0.64590	0.0734:0.0:0.9266:0.0	.	147;147;412;238;119	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	Q	466;147;34;147;147;147;119;147	ENSP00000377049:R147Q;ENSP00000432375:R34Q;ENSP00000260047:R147Q;ENSP00000433585:R147Q;ENSP00000434666:R147Q;ENSP00000377051:R119Q;ENSP00000435790:R147Q	.	R	+	2	0	ANKRD42	82599099	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	4.787000	0.62432	1.501000	0.48654	0.655000	0.94253	CGA		0.408	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		12	622	0	0	0	1	0	12	622					A	82921451	G	A	82921451	3	1	102	1	0	0	0	0	1	0	0	0	670	1058	37	1	370	1	ANKRD42	11	82921451	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17507467	82921451	52085065	196	35051											
TRIM49	57093	broad.mit.edu	37	chr11	89531568	89531568	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctcattctgattcttctcTttccgatacatattacagac	3	11	4	2	rs560492199	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		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)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20193	0.001		0.0	False		,,,				2504	0.0					ENST00000329758.1																			3	Substitution - coding silent(3)	p.K363K(3)	endometrium(2)|prostate(1)	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						c.(1087-1089)aaA>aaG		tripartite motif containing 49							74	79	77					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531568T>C	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.1089A>G	11.37:g.89531568T>C						TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1417	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1089A>G	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		4	180	0	0	0	1	0	4	180					C	89531568	T	C	89531568	2	2	102	1	0	0	0	0	0	0	0	1	16577	1606	56	4		4	TRIM49	11	89531568	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	6610117	89531568	45474948	197	35052											
CASP1	834	broad.mit.edu	37	chr11	104901070	104901070	+	Frame_Shift_Del	DEL	T	T	-													aacttaccgaagcagtgagaTtttttttcacatctacgctg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:104901070delT	ENST00000533400.1	-	5	649	c.614delA	c.(613-615)aatfs	p.N205fs	CASP1_ENST00000446369.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000593315.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000436863.3_Frame_Shift_Del_p.N205fs|CASP1_ENST00000526568.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000393136.4_Frame_Shift_Del_p.N184fs|CASP1_ENST00000598974.1_Frame_Shift_Del_p.N205fs|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000534497.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000528974.1_Frame_Shift_Del_p.N166fs|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000525825.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000527979.1_Frame_Shift_Del_p.N168fs|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000594519.1_Frame_Shift_Del_p.N112fs	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	205					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)	p.N205I(1)		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)	AGCAGTGAGATTTTTTTTCAC	0.378																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			1	Substitution - Missense(1)	p.N205I(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(613-615)atfs		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						111	109	110					11																	104901070		2202	4299	6501	SO:0001589	frameshift_variant	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104901070delT	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.614delA	11.37:g.104901070delT	ENSP00000433138:p.Asn205fs					CASP1_ENST00000534497.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000527979.1_Frame_Shift_Del_p.N168fs|CASP1_ENST00000446369.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000593315.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000526568.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000528974.1_Frame_Shift_Del_p.N166fs|CASP1_ENST00000594519.1_Frame_Shift_Del_p.N112fs|CASP1_ENST00000525825.1_Frame_Shift_Del_p.N184fs|CASP1_ENST00000598974.1_Frame_Shift_Del_p.N205fs|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Frame_Shift_Del_p.N205fs|CASP1_ENST00000393136.4_Frame_Shift_Del_p.N184fs|CASP1_ENST00000415981.2_Intron	p.N205fs	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	5	649	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	205					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Frame_Shift_Del	DEL	ENST00000533400.1	37	c.614delA	CCDS8330.1																																																																																				0.378	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		7	678						7	678	---	---	---	---	-	104901070	T	-	104901070	7	5	102	1	0	1	0	1	0	0	0	0	2675	1493	52	0	620	0	CASP1	11	104901070	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	15369502	104901070	30105446	198	35053											
RNF26	79102	broad.mit.edu	37	chr11	119206987	119206987	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtgtcatctgccaggaCcagagcaagacagtgttgct	12	9	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119206987C>T	ENST00000311413.4	+	1	1751	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	385						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCCAGGACCAGAGCAAGA	0.597																																						ENST00000311413.4																			0				cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1153-1155)gaC>gaT		ring finger protein 26							105	88	94					11																	119206987		2199	4295	6494	SO:0001819	synonymous_variant	79102						zinc ion binding	g.chr11:119206987C>T	AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.1155C>T	11.37:g.119206987C>T						RP11-334E6.10_ENST00000501918.2_RNA	p.D385D	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)	1	1751	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	385					Q542Y8	Silent	SNP	ENST00000311413.4	37	c.1155C>T	CCDS8419.1																																																																																				0.597	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015		16	421	0	0	0	1	0	16	421					T	119206987	C	T	119206987	2	4	102	1	0	0	0	0	0	0	0	1	13536	506	18	2		2	RNF26	11	119206987	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	14305917	119206987	15799529	199	35054											
THY1	7070	broad.mit.edu	37	chr11	119290857	119290857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtccttgctagtgaaggCggataagtagaggaccttca	12	9	1	2	rs142564004		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:119290857C>T	ENST00000284240.5	-	3	1316	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000530002.1_RNA|RP11-334E6.12_ENST00000578216.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.A76T|THY1_ENST00000527590.1_5'UTR	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	93	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CTAGTGAAGGCGGATAAGTAG	0.562																																						ENST00000284240.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(277-279)Gcc>Acc		Thy-1 cell surface antigen		C	THR/ALA	1,4397	2.1+/-5.4	0,1,2198	275	215	235		277	-3.7	0	11	dbSNP_134	235	1,8589	1.2+/-3.3	0,1,4294	no	missense	THY1	NM_006288.3	58	0,2,6492	TT,TC,CC		0.0116,0.0227,0.0154	benign	93/162	119290857	2,12986	2199	4295	6494	SO:0001583	missense	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119290857C>T	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.277G>A	11.37:g.119290857C>T	ENSP00000284240:p.Ala93Thr					THY1_ENST00000580275.1_Missense_Mutation_p.A76T|THY1_ENST00000528522.1_Missense_Mutation_p.A93T|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000530002.1_RNA|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR	p.A93T	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	3	1316	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	93			Ig-like V-type.		Q16008|Q9NSP1	Missense_Mutation	SNP	ENST00000284240.5	37	c.277G>A	CCDS8424.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945019	0.34283	2.27E-4	1.16E-4	ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.94	-3.71	0.04424	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.566810	0.03175	N	0.171259	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.25441	0.126	B	0.23275	0.045	T	0.28138	-1.0053	10	0.42905	T	0.14	-7.3332	7.1224	0.25453	0.1288:0.2015:0.0:0.6697	.	93	P04216	THY1_HUMAN	T	93	ENSP00000284240:A93T;ENSP00000431301:A93T;ENSP00000432808:A93T;ENSP00000435753:A93T	ENSP00000284240:A93T	A	-	1	0	THY1	118796067	0.000000	0.05858	0.028000	0.17463	0.953000	0.61014	-0.396000	0.07278	-0.677000	0.05231	0.591000	0.81541	GCC		0.562	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		17	490	0	0	0	1	0	17	490					T	119290857	C	T	119290857	3	4	102	1	0	0	0	0	1	0	0	0	15937	768	27	1	216	1	THY1	11	119290857	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	83870	119290857	15715659	200	35055											
SC5DL	6309	broad.mit.edu	37	chr11	121174258	121174258	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgagctattattttgtcttCgatcatgcattaatgaaaca	6	7	2	2	rs200792246		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:121174258C>T	ENST00000392789.2	+	2	411	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SC5D_ENST00000264027.4_Silent_p.F58F|SC5D_ENST00000534230.1_Silent_p.F58F	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	58					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)	p.F58F(1)									ATTTTGTCTTCGATCATGCAT	0.294													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19192	0.0		0.0	False		,,,				2504	0.0					ENST00000264027.4																			1	Substitution - coding silent(1)	p.F58F(1)	large_intestine(1)								c.(172-174)ttC>ttT		sterol-C5-desaturase							156	152	154					11																	121174258		2203	4299	6502	SO:0001819	synonymous_variant	6309							g.chr11:121174258C>T		CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"Fatty acid hydroxylase domain containing"	10547	protein-coding gene	gene with protein product	"lathosterol oxidase"	602286	"sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like", "sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.174C>T	11.37:g.121174258C>T						SC5D_ENST00000392789.2_Silent_p.F58F|SC5D_ENST00000534230.1_Silent_p.F58F	p.F58F	NM_006918.4	NP_008849.2					2	548	+								O00119|Q6GTM5|Q9UK15	Silent	SNP	ENST00000392789.2	37	c.174C>T	CCDS8435.1																																																																																				0.294	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956		70	251	0	0	0	1	0	70	251					T	121174258	C	T	121174258	2	4	102	1	0	0	0	0	0	0	0	1	13916	883	31	1		1	SC5DL	11	121174258	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1883401	121174258	13832258	201	35056											
C11orf63	79864	broad.mit.edu	37	chr11	122774816	122774816	+	Frame_Shift_Del	DEL	A	A	-													tcaatggaactctccgggggAaaaggcgagcagaaagagag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:122774816delA	ENST00000531316.1	+	2	620	c.528delA	c.(526-528)ggafs	p.G176fs	C11orf63_ENST00000307257.6_Frame_Shift_Del_p.G176fs|C11orf63_ENST00000227349.2_Frame_Shift_Del_p.G176fs			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	176					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)		TCTCCGGGGGAAAAGGCGAGC	0.532																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(526-528)ggfs		chromosome 11 open reading frame 63							56	62	60					11																	122774816		2202	4299	6501	SO:0001589	frameshift_variant	79864							g.chr11:122774816delA	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.528delA	11.37:g.122774816delA	ENSP00000431669:p.Gly176fs					C11orf63_ENST00000531316.1_Frame_Shift_Del_p.G176fs|C11orf63_ENST00000307257.6_Frame_Shift_Del_p.G176fs	p.G176fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	3	825	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	176					A8K6G0|Q96GB5|Q9H5D6	Frame_Shift_Del	DEL	ENST00000531316.1	37	c.528delA	CCDS8438.1																																																																																				0.532	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		10	676						10	676	---	---	---	---	-	122774816	A	-	122774816	7	5	102	1	0	1	0	1	0	0	0	0	1659	233	9	0	534	0	C11orf63	11	122774816	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	1600558	122774816	12231700	202	35057											
OR6X1	390260	broad.mit.edu	37	chr11	123625215	123625215	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaattctgtgattactgtGccatttctcatgtcccttga	7	9	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:123625215G>A	ENST00000327930.2	-	1	38	c.12C>T	c.(10-12)ggC>ggT	p.G4G		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		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;0.0279)		TGATTACTGTGCCATTTCTCA	0.398																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(10-12)ggC>ggT		olfactory receptor, family 6, subfamily X, member 1							89	82	85					11																	123625215		2196	4274	6470	SO:0001819	synonymous_variant	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123625215G>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.12C>T	11.37:g.123625215G>A							p.G4G	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	38	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	4					B9EGW9|Q6IFA0	Silent	SNP	ENST00000327930.2	37	c.12C>T	CCDS31695.1																																																																																				0.398	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		135	506	0	0	0	1	0	135	506					A	123625215	G	A	123625215	2	1	102	1	0	0	0	0	0	0	0	1	11254	1306	46	2		2	OR6X1	11	123625215	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	850399	123625215	11381301	203	35058											
OR8B12	219858	broad.mit.edu	37	chr11	124413456	124413456	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacggtgaccgtgtagaaaCccagaaacaggaagaagagg	13	9	0	5			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:124413456C>T	ENST00000306842.2	-	1	119	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	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)|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)		CGTGTAGAAACCCAGAAACAG	0.512																																						ENST00000306842.2																			0				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						c.(94-96)gGt>gAt		olfactory receptor, family 8, subfamily B, member 12							58	62	61					11																	124413456		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413456C>T		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.95G>A	11.37:g.124413456C>T	ENSP00000307159:p.Gly32Asp						p.G32D	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	119	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	32					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.95G>A	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932336	0.18131	.	.	ENSG00000170953	ENST00000306842	T	0.00441	7.41	3.89	1.92	0.25849	.	0.739643	0.12351	N	0.476555	T	0.00412	0.0013	M	0.64676	1.99	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34104	-0.9842	10	0.35671	T	0.21	.	9.0627	0.36444	0.2929:0.5648:0.1422:0.0	.	32	Q8NGG6	OR8BC_HUMAN	D	32	ENSP00000307159:G32D	ENSP00000307159:G32D	G	-	2	0	OR8B12	123918666	0.000000	0.05858	0.075000	0.20258	0.874000	0.50279	0.248000	0.18198	0.550000	0.28991	0.650000	0.86243	GGT		0.512	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			16	499	0	0	0	1	0	16	499					T	124413456	C	T	124413456	3	4	102	1	0	0	0	0	1	0	0	0	11268	507	18	2	839	2	OR8B12	11	124413456	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	788241	124413456	10593060	204	35059											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844270	128844270	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cattctgagctgtggtatttGagactgtaccaatgacttct	9	8	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:128844270G>A	ENST00000310343.9	-	20	2779	c.2780C>T	c.(2779-2781)tCa>tTa	p.S927L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S578L|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S578L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	927					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						TGTGGTATTTGAGACTGTACC	0.438																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2779-2781)tCa>tTa		Rho GTPase activating protein 32							198	181	187					11																	128844270		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844270G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2780C>T	11.37:g.128844270G>A	ENSP00000310561:p.Ser927Leu					ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S853L|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S578L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S578L	p.S927L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2779	-			927					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.2780C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	1.539	-0.542366	0.04053	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.81	5.81	0.92471	.	0.685457	0.14496	N	0.316057	T	0.19005	0.0456	L	0.47716	1.5	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.09422	-1.0675	10	0.27082	T	0.32	.	9.239	0.37484	0.0747:0.0:0.7798:0.1455	.	861;927	Q86T64;A7KAX9	.;RHG32_HUMAN	L	927;578;853;861;578	ENSP00000310561:S927L;ENSP00000376425:S578L;ENSP00000432468:S853L;ENSP00000432862:S578L	ENSP00000310561:S927L	S	-	2	0	ARHGAP32	128349480	0.439000	0.25610	0.010000	0.14722	0.962000	0.63368	3.889000	0.56212	2.745000	0.94114	0.655000	0.94253	TCA		0.438	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		91	344	0	0	0	1	0	91	344					A	128844270	G	A	128844270	3	1	102	1	0	0	0	0	1	0	0	0	881	1294	45	2	3495	2	ARHGAP32	11	128844270	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4430814	128844270	6162246	205	35060											
BARX2	8538	broad.mit.edu	37	chr11	129321169	129321169	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aggagcagctggagccctctCaggggcaggaggagctctgt	17	10	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:129321169C>T	ENST00000281437.4	+	4	808	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*|BARX2_ENST00000526127.1_Nonsense_Mutation_p.Q93*	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	238					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GGAGCCCTCTCAGGGGCAGGA	0.582																																						ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(712-714)Cag>Tag		BARX homeobox 2							68	62	64					11																	129321169		2201	4297	6498	SO:0001587	stop_gained	8538							g.chr11:129321169C>T	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.712C>T	11.37:g.129321169C>T	ENSP00000281437:p.Gln238*					BARX2_ENST00000526127.1_Nonsense_Mutation_p.Q93*|BARX2_ENST00000531946.1_Nonsense_Mutation_p.Q116*	p.Q238*	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	4	808	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	238					O43518|Q6NT51	Nonsense_Mutation	SNP	ENST00000281437.4	37	c.712C>T	CCDS8481.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365625	0.97507	.	.	ENSG00000043039	ENST00000281437;ENST00000526127;ENST00000531946	.	.	.	5.51	-0.263	0.12954	.	1.403330	0.03992	N	0.294986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	7.0817	0.25235	0.1156:0.3683:0.445:0.0712	.	.	.	.	X	238;93;116	.	ENSP00000281437:Q238X	Q	+	1	0	BARX2	128826379	0.053000	0.20554	0.001000	0.08648	0.008000	0.06430	0.707000	0.25704	0.268000	0.21939	0.655000	0.94253	CAG		0.582	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		7	368	0	0	0	1	0	7	368					T	129321169	C	T	129321169	4	4	102	1	0	0	0	0	0	1	0	0	1317	827	29	2	726	2	BARX2	11	129321169	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	476899	129321169	5685347	206	35061											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332572	130332572	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagggacagatggtgtGccagacccgccacttcccct	12	15	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr11:130332572G>T	ENST00000299164.2	+	4	1439	c.1439G>T	c.(1438-1440)tGc>tTc	p.C480F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	480	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)		CAGATGGTGTGCCAGACCCGC	0.627																																						ENST00000299164.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1438-1440)tGc>tTc		ADAM metallopeptidase with thrombospondin type 1 motif, 15							75	72	73					11																	130332572		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130332572G>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1439G>T	11.37:g.130332572G>T	ENSP00000299164:p.Cys480Phe						p.C480F	NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1439	+	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)	480			Disintegrin.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1439G>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754975	0.89843	.	.	ENSG00000166106	ENST00000299164	T	0.68765	-0.35	5.48	5.48	0.80851	.	.	.	.	.	D	0.87962	0.6310	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91263	0.5038	9	0.87932	D	0	.	19.3471	0.94367	0.0:0.0:1.0:0.0	.	480	Q8TE58	ATS15_HUMAN	F	480	ENSP00000299164:C480F	ENSP00000299164:C480F	C	+	2	0	ADAMTS15	129837782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.566000	0.86566	0.655000	0.94253	TGC		0.627	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		10	514	1	0	1.58986e-06	1	1.65331e-06	10	514					T	130332572	G	T	130332572	3	4	102	1	0	0	0	0	1	0	0	0	260	1319	46	3	1453	3	ADAMTS15	11	130332572	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1011403	130332572	4673944	207	35062											
NINJ2	283358	broad.mit.edu	37	chr12	675233	675233	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcaccgccttcagccGcatggcgttggacatgaaca	10	15	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:675233G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000305108.4_Missense_Mutation_p.R95W|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_Missense_Mutation_p.R13W|NINJ2_ENST00000542920.1_Missense_Mutation_p.R13W|NINJ2_ENST00000397265.3_Missense_Mutation_p.R42W	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCCTTCAGCCGCATGGCGTTG	0.612																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(283-285)Cgg>Tgg		ninjurin 2							142	97	112					12																	675233		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:675233G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675233G>A						NINJ2_ENST00000397265.3_Missense_Mutation_p.R42W|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000542920.1_Missense_Mutation_p.R13W|NINJ2_ENST00000433832.2_Missense_Mutation_p.R13W	p.R95W	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		2	563	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		49					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.283C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070728	0.93950	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920;ENST00000433832	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.83	4.83	0.62350	.	0.237952	0.36628	N	0.002481	T	0.56485	0.1988	L	0.40543	1.245	0.53688	D	0.999977	D;D	0.89917	1.0;0.999	D;P	0.69654	0.965;0.877	T	0.61163	-0.7118	10	0.87932	D	0	-11.7848	17.9351	0.89010	0.0:0.0:1.0:0.0	.	95;49	B4DJC1;Q9NZG7	.;NINJ2_HUMAN	W	95;42;13;13	ENSP00000307552:R95W;ENSP00000380435:R42W;ENSP00000438831:R13W;ENSP00000415158:R13W	ENSP00000307552:R95W	R	-	1	2	NINJ2	545494	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.396000	0.73234	2.213000	0.71641	0.491000	0.48974	CGG		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		5	275	0	0	0	1	0	5	275					A	675233	G	A	675233	1	1	102	0	1	0	0	0	0	0	0	0	10461	1086	38	1		1	NINJ2	12	675233	IGR	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		675233	133176662	208	35063											
WNT5B	81029	broad.mit.edu	37	chr12	1742027	1742027	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcggtggaattgcaGcacagcggacaacgcatctg	15	11	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:1742027G>A	ENST00000397196.2	+	3	516	c.284G>A	c.(283-285)aGc>aAc	p.S95N	WNT5B_ENST00000537031.1_Missense_Mutation_p.S95N|WNT5B_ENST00000310594.3_Missense_Mutation_p.S95N|WNT5B_ENST00000542408.1_Missense_Mutation_p.S95N	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	95					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGGAATTGCAGCACAGCGGAC	0.562																																						ENST00000397196.2																			0				skin(1)	1						c.(283-285)aGc>aAc		wingless-type MMTV integration site family, member 5B							61	62	61					12																	1742027		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1742027G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.284G>A	12.37:g.1742027G>A	ENSP00000380379:p.Ser95Asn					WNT5B_ENST00000537031.1_Missense_Mutation_p.S95N|WNT5B_ENST00000542408.1_Missense_Mutation_p.S95N|WNT5B_ENST00000310594.3_Missense_Mutation_p.S95N	p.S95N	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	516	+	Ovarian(42;0.107)		95					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.284G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234610	0.95207	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.1	5.1	0.69264	.	0.034714	0.85682	D	0.000000	D	0.89192	0.6645	M	0.87269	2.87	0.80722	D	1	D	0.56287	0.975	D	0.65573	0.936	D	0.89137	0.3514	10	0.41790	T	0.15	.	18.9506	0.92640	0.0:0.0:1.0:0.0	.	95	Q9H1J7	WNT5B_HUMAN	N	95	ENSP00000438414:S95N;ENSP00000445395:S95N;ENSP00000439312:S95N;ENSP00000308887:S95N;ENSP00000380379:S95N;ENSP00000442348:S95N;ENSP00000440600:S95N	ENSP00000308887:S95N	S	+	2	0	WNT5B	1612288	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.873000	0.87193	2.545000	0.85829	0.650000	0.86243	AGC		0.562	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			6	502	0	0	0	1	0	6	502					A	1742027	G	A	1742027	3	1	102	1	0	0	0	0	1	0	0	0	17446	971	34	2	290	2	WNT5B	12	1742027	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1066794	1742027	132109868	209	35064											
CSDA	8531	broad.mit.edu	37	chr12	10862578	10862579	+	Frame_Shift_Ins	INS	-	-	C													cccacgtggtaaggcgggaaINSccgccgctgccggtactgag					rs201350858|rs377551329		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:10862578_10862579insC	ENST00000228251.4	-	6	908_909	c.708_709insG	c.(706-711)cggttcfs	p.F237fs	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Intron	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	237					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TAAGGCGGGAACCGCCGCTGCC	0.589																																						ENST00000228251.4																			0											c.(706-711)cgtcccfs		Y box binding protein 3																																				SO:0001589	frameshift_variant	8531							g.chr12:10862578_10862579insC	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"cold-shock domain containing A1"	603437	"cold shock domain protein A"	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.709dupG	12.37:g.10862580_10862580dupC	ENSP00000228251:p.Phe237fs					YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	p.P237fs	NM_003651.4	NP_003642.3					6	908_909	-								B2RBW6|Q14121|Q969N6|Q96B76	Frame_Shift_Ins	INS	ENST00000228251.4	37	c.708_709insG	CCDS8630.1																																																																																				0.589	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		7	264						7	264	---	---	---	---	C	10862579	-	C	10862578	7	5	102	1	0	1	1	0	0	0	0	0	3938	43	2	0	425	0	CSDA	12	10862578	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	9120551	10862578	122989317	210	35065											
KRT6B	3854	broad.mit.edu	37	chr12	52843307	52843307	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgagcaatctcctcAtattgggccttgacctcagc	7	15	4	2	rs367709654		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:52843307A>G	ENST00000252252.3	-	5	1070	c.1023T>C	c.(1021-1023)taT>taC	p.Y341Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	341	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CAATCTCCTCATATTGGGCCT	0.562													A|||	1	0.000199681	0.0008	0.0	5008	,	,		22655	0.0		0.0	False		,,,				2504	0.0					ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1021-1023)taT>taC		keratin 6B		A		1,4405	2.1+/-5.4	0,1,2202	218	194	202		1023	-2.1	0.4	12		202	0,8600		0,0,4300	no	coding-synonymous	KRT6B	NM_005555.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		341/565	52843307	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843307A>G	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.1023T>C	12.37:g.52843307A>G							p.Y341Y	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	1070	-			341			Coil 2.|Rod.		P48669	Silent	SNP	ENST00000252252.3	37	c.1023T>C	CCDS8828.1																																																																																				0.562	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		9	834	0	0	0	1	0	9	834					G	52843307	A	G	52843307	2	3	102	1	0	0	0	0	0	0	0	1	8511	224	8	4		4	KRT6B	12	52843307	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	41980729	52843307	81008588	211	35066											
IKZF4	64375	broad.mit.edu	37	chr12	56429066	56429066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggttatcacagccaggaccGgtacgaattctcttcccaca	8	13	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:56429066G>A	ENST00000262032.5	+	12	2076	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.R525Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R570Q|IKZF4_ENST00000431367.2_Missense_Mutation_p.R468Q			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	570					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGCCAGGACCGGTACGAATTC	0.552																																						ENST00000262032.5																			0				NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8						c.(1708-1710)cGg>cAg		IKAROS family zinc finger 4 (Eos)							208	206	207					12																	56429066		2153	4273	6426	SO:0001583	missense	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429066G>A	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1709G>A	12.37:g.56429066G>A	ENSP00000262032:p.Arg570Gln					RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Missense_Mutation_p.R525Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R570Q|IKZF4_ENST00000431367.2_Missense_Mutation_p.R468Q	p.R570Q			Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		12	2076	+			570					Q96JP3	Missense_Mutation	SNP	ENST00000262032.5	37	c.1709G>A	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536134	0.85812	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);	0.000000	0.44097	D	0.000483	T	0.62258	0.2413	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;1.0;0.99	D;P;D;P	0.81914	0.995;0.71;0.995;0.516	T	0.65763	-0.6089	10	0.72032	D	0.01	-11.3719	16.6505	0.85188	0.0:0.0:1.0:0.0	.	468;525;529;570	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	Q	570;468;570;525	ENSP00000262032:R570Q;ENSP00000412101:R468Q;ENSP00000448419:R570Q;ENSP00000450020:R525Q	ENSP00000262032:R570Q	R	+	2	0	IKZF4	54715333	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.601000	0.98297	2.453000	0.82957	0.313000	0.20887	CGG		0.552	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		6	966	0	0	0	1	0	6	966					A	56429066	G	A	56429066	3	1	102	1	0	0	0	0	1	0	0	0	7647	1116	39	1	1739	1	IKZF4	12	56429066	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3585759	56429066	77422829	212	35067											
NACA	4666	broad.mit.edu	37	chr12	57111810	57111810	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgtgggggcccctttTgggggtggggtagctagacc	21	7	0	1	rs2926745	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57111810T>G	ENST00000454682.1	-	3	3785	c.3504A>C	c.(3502-3504)ccA>ccC	p.P1168P	NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1168	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						GGGCCCCTTTTGGGGGTGGGG	0.627			T	BCL6	NHL								-|||	26	0.00519169	0.0015	0.0014	5008	,	,		7107	0.0169		0.006	False		,,,				2504	0.0					ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3502-3504)ccA>ccC		nascent polypeptide-associated complex alpha subunit							62	71	68					12																	57111810		1154	2693	3847	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111810T>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3504A>C	12.37:g.57111810T>G						NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	p.P1168P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3785	-			0						Silent	SNP	ENST00000454682.1	37	c.3504A>C																																																																																					0.627	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		10	822	0	0	0	1	0	10	822					G	57111810	T	G	57111810	2	3	102	1	0	0	0	0	0	0	0	1	10174	1799	63	4		4	NACA	12	57111810	Silent	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	682744	57111810	76740085	213	35068											
STAC3	246329	broad.mit.edu	37	chr12	57642585	57642585	+	Splice_Site	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgaagcccaaacttgttgttGacttgggaaagggggagaaa	14	6	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:57642585G>A	ENST00000332782.2	-	4	537	c.336C>T	c.(334-336)ctC>ctT	p.L112L	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Splice_Site_p.L73L	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	112					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACTTGTTGTTGACTTGGGAAA	0.463																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.e4-1		SH3 and cysteine rich domain 3							266	238	247					12																	57642585		2203	4300	6503	SO:0001630	splice_region_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642585G>A	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.335-1C>T	12.37:g.57642585G>A						STAC3_ENST00000554578.1_Splice_Site_p.L73_splice|STAC3_ENST00000546246.2_Intron	p.L112_splice	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			4	537	-			112					B4DUK9|Q96HU5	Splice_Site	SNP	ENST00000332782.2	37	c.334_splice	CCDS8936.1																																																																																				0.463	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064	Silent	440	455	0	0	0	1	0	440	455					A	57642585	G	A	57642585	5	1	102	1	0	0	0	0	0	0	1	0	15293	1304	45	2	794	2	STAC3	12	57642585	Splice_Site	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	530775	57642585	76209310	214	35069											
SRGAP1	57522	broad.mit.edu	37	chr12	64536271	64536271	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgagcctcagattcgacGtagcacgagctcctccagtg	10	15	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:64536271G>A	ENST00000355086.3	+	22	3601	c.3077G>A	c.(3076-3078)cGt>cAt	p.R1026H	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1003H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1026					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)		CAGATTCGACGTAGCACGAGC	0.562																																						ENST00000355086.3																			0				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						c.(3076-3078)cGt>cAt		SLIT-ROBO Rho GTPase activating protein 1							129	107	114					12																	64536271		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64536271G>A	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.3077G>A	12.37:g.64536271G>A	ENSP00000347198:p.Arg1026His					SRGAP1_ENST00000543397.1_Missense_Mutation_p.R963H|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R1003H	p.R1026H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	22	3601	+			1026					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.3077G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412989	0.83449	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.34667	1.35;1.35;1.35	6.04	6.04	0.98038	.	0.000000	0.34002	U	0.004357	T	0.50667	0.1629	M	0.62723	1.935	0.80722	D	1	P;D	0.64830	0.757;0.994	B;P	0.51415	0.095;0.669	T	0.37220	-0.9715	9	.	.	.	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1026;963	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	1026;1003;963	ENSP00000347198:R1026H;ENSP00000350480:R1003H;ENSP00000437948:R963H	.	R	+	2	0	SRGAP1	62822538	1.000000	0.71417	0.527000	0.27925	0.080000	0.17528	6.584000	0.74057	2.873000	0.98535	0.563000	0.77884	CGT		0.562	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			21	364	0	0	0	1	0	21	364					A	64536271	G	A	64536271	3	1	102	1	0	0	0	0	1	0	0	0	15197	1145	40	1	3163	1	SRGAP1	12	64536271	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	6893686	64536271	69315624	215	35070											
WIF1	11197	broad.mit.edu	37	chr12	65471603	65471603	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcctttatccagggagCgcaaggacaggaattcatag	12	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:65471603C>G	ENST00000286574.4	-	3	694	c.320G>C	c.(319-321)cGc>cCc	p.R107P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	107	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		ATCCAGGGAGCGCAAGGACAG	0.498			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(319-321)cGc>cCc		WNT inhibitory factor 1							120	101	108					12																	65471603		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65471603C>G	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.320G>C	12.37:g.65471603C>G	ENSP00000286574:p.Arg107Pro						p.R107P	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	3	694	-			107			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.320G>C	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383858	0.82792	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.45276	0.9;0.9	5.35	5.35	0.76521	WIF domain (4);	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	L	0.36672	1.1	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	T	0.37407	-0.9707	9	.	.	.	.	14.6498	0.68789	0.0:0.928:0.0:0.072	.	107	Q9Y5W5	WIF1_HUMAN	P	107;45	ENSP00000286574:R107P;ENSP00000442063:R45P	.	R	-	2	0	WIF1	63757870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.581000	0.46077	2.689000	0.91719	0.650000	0.86243	CGC		0.498	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			56	74	0	0	0	1	0	56	74					G	65471603	C	G	65471603	3	3	102	1	0	0	0	0	1	0	0	0	17420	768	27	5	851	5	WIF1	12	65471603	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	935332	65471603	68380292	216	35071											
GPR81	27198	broad.mit.edu	37	chr12	123213884	123213884	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtggggatcccattgcccatCagactggctttggaaactat	11	10	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr12:123213884C>A	ENST00000436083.2	-	1	1506	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	RP11-324E6.9_ENST00000602891.1_lincRNA|HCAR1_ENST00000432564.1_Missense_Mutation_p.D335Y|HCAR1_ENST00000356987.2_Missense_Mutation_p.D335Y			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	335					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						CATTGCCCATCAGACTGGCTT	0.488																																						ENST00000432564.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						c.(1003-1005)Gat>Tat		hydroxycarboxylic acid receptor 1							149	136	140					12																	123213884		2203	4300	6503	SO:0001583	missense	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123213884C>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	4532	protein-coding gene	gene with protein product	"lactate receptor 1"	606923	"G protein-coupled receptor 104", "G protein-coupled receptor 81"	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.1003G>T	12.37:g.123213884C>A	ENSP00000409980:p.Asp335Tyr					HCAR1_ENST00000356987.2_Missense_Mutation_p.D335Y|HCAR1_ENST00000436083.2_Missense_Mutation_p.D335Y	p.D335Y	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN			1	1245	-			335					B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	c.1003G>T	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946361	0.34377	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.62105	0.05;0.05;0.05	5.56	2.72	0.32119	.	0.822850	0.10420	N	0.676826	T	0.46112	0.1376	L	0.36672	1.1	0.09310	N	1	P	0.37015	0.578	B	0.30782	0.12	T	0.37572	-0.9700	10	0.56958	D	0.05	-8.308	5.2508	0.15521	0.0:0.6518:0.1692:0.179	.	335	Q9BXC0	HCAR1_HUMAN	Y	335	ENSP00000349478:D335Y;ENSP00000389255:D335Y;ENSP00000409980:D335Y	ENSP00000349478:D335Y	D	-	1	0	HCAR1	121779837	0.000000	0.05858	0.001000	0.08648	0.139000	0.21198	-0.083000	0.11286	0.689000	0.31550	0.655000	0.94253	GAT		0.488	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1			25	416	1	0	1.96895e-08	1	2.08173e-08	25	416					A	123213884	C	A	123213884	3	1	102	1	0	0	0	0	1	0	0	0	6740	826	29	3	41	3	GPR81	12	123213884	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	57742281	123213884	10638011	217	35072											
ATP12A	479	broad.mit.edu	37	chr13	25272886	25272886	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctagagaaatgcagcAccatcatgatcaacggcgag	10	11	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:25272886A>G	ENST00000381946.3	+	12	1770	c.1603A>G	c.(1603-1605)Acc>Gcc	p.T535A	ATP12A_ENST00000218548.6_Missense_Mutation_p.T541A			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	535					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GAAATGCAGCACCATCATGAT	0.602																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1621-1623)Acc>Gcc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						123	116	119					13																	25272886		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25272886A>G	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1603A>G	13.37:g.25272886A>G	ENSP00000371372:p.Thr535Ala					ATP12A_ENST00000381946.3_Missense_Mutation_p.T535A	p.T541A	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	12	1954	+		Lung SC(185;0.0225)|Breast(139;0.077)	535					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1621A>G	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040502	0.55003	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79845	-1.31;-1.31	6.08	6.08	0.98989	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	0.87680	0.6238	L	0.60845	1.875	0.58432	D	0.999993	B;D	0.62365	0.415;0.991	B;D	0.76071	0.271;0.987	D	0.88592	0.3144	10	0.87932	D	0	.	14.5959	0.68407	1.0:0.0:0.0:0.0	.	541;535	P54707-2;P54707	.;AT12A_HUMAN	A	541;535	ENSP00000218548:T541A;ENSP00000371372:T535A	ENSP00000218548:T541A	T	+	1	0	ATP12A	24170886	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	5.917000	0.69989	2.333000	0.79357	0.533000	0.62120	ACC		0.602	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		30	489	0	0	0	1	0	30	489					G	25272886	A	G	25272886	3	3	102	1	0	0	0	0	1	0	0	0	1123	159	6	4	1667	4	ATP12A	13	25272886	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08		25272886	89896992	218	35073											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	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.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	8	319						8	319	---	---	---	---	-	27250863	GT	-	27250862	8	5	102	1	0	1	0	1	0	0	1	0	17308	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-LB-A7SX-01A-11D-A33T-08	1977976	27250862	87919016	219	35074											
WASF3	10810	broad.mit.edu	37	chr13	27255386	27255387	+	Frame_Shift_Ins	INS	-	-	C													tcaacagacctcagcagccgINSccccccccgcctccccctca					rs529756888|rs141429361	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:27255386_27255387insC	ENST00000335327.5	+	8	1090_1091	c.912_913insC	c.(913-915)cccfs	p.P305fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P302fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	305	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)		CTCAGCAGCCGCCCCCCCCGCC	0.678																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(901-906)ccccccfs		WAS protein family, member 3				82,4062		3,76,1993						-6.7	0.1			31	128,8010		7,114,3948	no	frameshift	WASF3	NM_006646.5		10,190,5941	A1A1,A1R,RR		1.5729,1.9788,1.7098				210,12072				SO:0001589	frameshift_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255386_27255387insC	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.920dupC	13.37:g.27255394_27255394dupC	ENSP00000335055:p.Pro305fs					WASF3_ENST00000335327.5_Frame_Shift_Ins_p.PP304fs	p.PP301fs			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1128_1129	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	304					O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	c.903_904insC	CCDS9318.1																																																																																				0.678	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			8	421						8	421	---	---	---	---	C	27255387	-	C	27255386	7	5	102	1	0	1	1	0	0	0	0	0	17308	1074	38	0	934	0	WASF3	13	27255386	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	4524	27255386	87914492	220	35075											
COG3	83548	broad.mit.edu	37	chr13	46054424	46054425	+	Splice_Site	INS	-	-	G													gaacagctcctaaaagaacaINSggtaatttggagtaagagag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46054424_46054425insG	ENST00000349995.5	+	4	660_661	c.548_549insG	c.(547-552)cagtcg>caGgtcg	p.S184fs		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	184					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CTAAAAGAACAGGTAATTTGGA	0.332																																					Ovarian(150;1048 1859 18083 21577 42700)	ENST00000349995.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24						c.e4+1		component of oligomeric golgi complex 3																																				SO:0001630	splice_region_variant	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46054424_46054425insG	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"Components of oligomeric golgi complex"	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.549+1->G	13.37:g.46054426_46054426dupG							p.L183_splice	NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	4	660_661	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	183					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Splice_Site	INS	ENST00000349995.5	37	c.549_splice	CCDS9398.1																																																																																				0.332	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2		Frame_Shift_Ins	85	217						85	217	---	---	---	---	G	46054425	-	G	46054424	8	5	102	1	0	1	1	0	0	0	1	0	3668	202	7	0	562	0	COG3	13	46054424	Splice_Site	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	18799038	46054424	69115454	221	35076											
SPERT	220082	broad.mit.edu	37	chr13	46287490	46287490	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcgccccatgtcccaggcCgacctggagctggactacaa	12	15	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:46287490C>T	ENST00000310521.1	+	3	410	c.330C>T	c.(328-330)gcC>gcT	p.A110A	SPERT_ENST00000378966.3_Silent_p.A74A	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	110						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TGTCCCAGGCCGACCTGGAGC	0.647																																						ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(220-222)gcC>gcT		spermatid associated							62	66	65					13																	46287490		2203	4300	6503	SO:0001819	synonymous_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287490C>T	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"spermatid flower-like structure protein", "testis specific leucine zipper protein nurit", "chibby homolog 2 (Drosophila)"					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.330C>T	13.37:g.46287490C>T						SPERT_ENST00000310521.1_Silent_p.A110A	p.A74A			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	638	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	110					A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	c.222C>T	CCDS9399.1																																																																																				0.647	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		8	719	0	0	0	1	0	8	719					T	46287490	C	T	46287490	2	4	102	1	0	0	0	0	0	0	0	1	15091	639	23	1		1	SPERT	13	46287490	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	233066	46287490	68882388	222	35077											
LRCH1	23143	broad.mit.edu	37	chr13	47266759	47266759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggaggactcgtgccatcGccttagccccgttaaaggtc	11	13	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:47266759G>A	ENST00000389798.3	+	8	1300	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	LRCH1_ENST00000389797.3_Missense_Mutation_p.R368H|LRCH1_ENST00000311191.6_Missense_Mutation_p.R368H	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	368										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)		TCGTGCCATCGCCTTAGCCCC	0.408																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1102-1104)cGc>cAc		leucine-rich repeats and calponin homology (CH) domain containing 1							129	106	114					13																	47266759		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47266759G>A	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.1103G>A	13.37:g.47266759G>A	ENSP00000374448:p.Arg368His					LRCH1_ENST00000389797.3_Missense_Mutation_p.R368H|LRCH1_ENST00000389798.3_Missense_Mutation_p.R368H	p.R368H	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	8	1332	+		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)	368					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.1103G>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771346	0.31320	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.51574	0.7;0.75;0.76	5.93	0.948	0.19561	.	0.393039	0.29225	N	0.012771	T	0.32406	0.0828	L	0.41961	1.31	0.26342	N	0.977352	B;B;B;B	0.21905	0.037;0.002;0.062;0.006	B;B;B;B	0.17979	0.009;0.002;0.02;0.001	T	0.14727	-1.0462	10	0.33940	T	0.23	-16.3864	4.6171	0.12432	0.4322:0.0:0.4239:0.1439	.	368;368;368;368	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	H	368	ENSP00000308493:R368H;ENSP00000374448:R368H;ENSP00000374447:R368H	ENSP00000308493:R368H	R	+	2	0	LRCH1	46164760	0.001000	0.12720	0.894000	0.35097	0.754000	0.42855	-0.287000	0.08388	-0.140000	0.11394	-0.136000	0.14681	CGC		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		77	257	0	0	0	1	0	77	257					A	47266759	G	A	47266759	3	1	102	1	0	0	0	0	1	0	0	0	8970	1087	38	1	1133	1	LRCH1	13	47266759	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	979269	47266759	67903119	223	35078											
SUGT1	10910	broad.mit.edu	37	chr13	53227075	53227075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatggcggcggctgcagcagGaactgcaacatcccagaggt	15	11	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:53227075G>A	ENST00000343788.6	+	1	102	c.20G>A	c.(19-21)gGa>gAa	p.G7E	SUGT1_ENST00000310528.8_Missense_Mutation_p.G7E|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	7					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		gctgcagcagGAACTGCAACA	0.542											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310528.7																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(19-21)gGa>gAa		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							79	78	79					13																	53227075		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53227075G>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.20G>A	13.37:g.53227075G>A	ENSP00000367208:p.Gly7Glu		OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.G7E	p.G7E	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	1	75	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	7					A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.20G>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	8.714	0.912663	0.17907	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.22134	1.97;1.98	4.02	2.14	0.27477	.	0.421812	0.21072	N	0.080645	T	0.10252	0.0251	N	0.08118	0	0.27126	N	0.962025	P;B	0.37781	0.608;0.447	B;B	0.34824	0.131;0.19	T	0.14476	-1.0471	10	0.87932	D	0	-3.5695	10.3823	0.44119	0.0:0.3812:0.6188:0.0	.	7;7	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	E	7	ENSP00000367208:G7E;ENSP00000308067:G7E	ENSP00000308067:G7E	G	+	2	0	SUGT1	52125076	0.135000	0.22499	0.864000	0.33941	0.730000	0.41778	-0.029000	0.12329	0.873000	0.35799	0.467000	0.42956	GGA		0.542	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			61	191	0	0	0	1	0	61	191					A	53227075	G	A	53227075	3	1	102	1	0	0	0	0	1	0	0	0	15421	1174	41	2	22	2	SUGT1	13	53227075	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5960316	53227075	61942803	224	35079											
PCDH9	5101	broad.mit.edu	37	chr13	67799612	67799612	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaggcactgaagtgatctgaActagtggaagagcgtttaga	14	5	1	5			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:67799612A>C	ENST00000377865.2	-	1	3095	c.2961T>G	c.(2959-2961)agT>agG	p.S987R	PCDH9_ENST00000544246.1_Missense_Mutation_p.S987R|PCDH9_ENST00000456367.1_Missense_Mutation_p.S987R|PCDH9_ENST00000377861.3_Missense_Mutation_p.S987R|PCDH9_ENST00000328454.5_Missense_Mutation_p.S987R			Q9HC56	PCDH9_HUMAN	protocadherin 9	987					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)		AGTGATCTGAACTAGTGGAAG	0.493																																						ENST00000544246.1																			0				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						c.(2959-2961)agT>agG		protocadherin 9							122	115	117					13																	67799612		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799612A>C	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.2961T>G	13.37:g.67799612A>C	ENSP00000367096:p.Ser987Arg					PCDH9_ENST00000377861.3_Missense_Mutation_p.S987R|PCDH9_ENST00000328454.5_Missense_Mutation_p.S987R|PCDH9_ENST00000456367.1_Missense_Mutation_p.S987R|PCDH9_ENST00000377865.2_Missense_Mutation_p.S987R	p.S987R	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3652	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	987					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2961T>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258886	0.39896	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.63	5.63	0.86233	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	L	0.61218	1.895	0.58432	D	0.999993	D;D;D;D	0.71674	0.998;0.996;0.998;0.998	D;D;D;D	0.74023	0.982;0.955;0.969;0.982	T	0.57797	-0.7749	10	0.49607	T	0.09	.	15.8249	0.78690	1.0:0.0:0.0:0.0	.	987;987;987;987	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	R	987	ENSP00000442186:S987R;ENSP00000367096:S987R;ENSP00000401699:S987R;ENSP00000332060:S987R;ENSP00000367092:S987R	ENSP00000332060:S987R	S	-	3	2	PCDH9	66697613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.163000	0.50763	2.142000	0.66516	0.533000	0.62120	AGT		0.493	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		133	304	0	0	0	1	0	133	304					C	67799612	A	C	67799612	3	2	102	1	0	0	0	0	1	0	0	0	11560	40	2	4	768	4	PCDH9	13	67799612	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	14572537	67799612	47370266	225	35080											
KLHL1	57626	broad.mit.edu	37	chr13	70681816	70681816	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcacatcgaagtcttttcGcccagagcctgacatgcttt	7	13	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:70681816G>A	ENST00000377844.4	-	1	775	c.16C>T	c.(16-18)Cga>Tga	p.R6*	KLHL1_ENST00000545028.1_5'Flank|ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					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)		AAGTCTTTTCGCCCAGAGCCT	0.647																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(16-18)Cga>Tga		kelch-like family member 1							18	21	20					13																	70681816		2201	4295	6496	SO:0001587	stop_gained	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681816G>A	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.16C>T	13.37:g.70681816G>A	ENSP00000367075:p.Arg6*					ATXN8OS_ENST00000414504.2_RNA	p.R6*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	775	-		Breast(118;0.000162)	6					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Nonsense_Mutation	SNP	ENST00000377844.4	37	c.16C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	44	11.251559	0.99537	.	.	ENSG00000150361	ENST00000377844	.	.	.	5.18	-3.56	0.04626	.	0.000000	0.36703	N	0.002455	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8523	0.52417	0.0:0.0873:0.1916:0.7211	.	.	.	.	X	6	.	ENSP00000367075:R6X	R	-	1	2	KLHL1	69579817	0.596000	0.26866	0.966000	0.40874	0.997000	0.91878	0.042000	0.13949	-0.483000	0.06772	0.655000	0.94253	CGA		0.647	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		57	120	0	0	0	1	0	57	120					A	70681816	G	A	70681816	4	1	102	1	0	0	0	0	0	1	0	0	8395	1095	38	1	2274	1	KLHL1	13	70681816	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2882204	70681816	44488062	226	35081											
DACH1	1602	broad.mit.edu	37	chr13	72049296	72049296	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtattgtcctttcagcatctGttctgccgccactgcggtca	9	13	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:72049296G>A	ENST00000359684.2	-	11	2221	c.2222C>T	c.(2221-2223)aCa>aTa	p.T741I	DACH1_ENST00000354591.4_Missense_Mutation_p.T487I|DACH1_ENST00000305425.4_Missense_Mutation_p.T689I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	741					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)		TTCAGCATCTGTTCTGCCGCC	0.423																																						ENST00000305425.4																			0				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						c.(2065-2067)aCa>aTa		dachshund homolog 1 (Drosophila)							86	86	86					13																	72049296		1872	4111	5983	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72049296G>A	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.2222C>T	13.37:g.72049296G>A	ENSP00000352712:p.Thr741Ile					DACH1_ENST00000359684.2_Missense_Mutation_p.T741I|DACH1_ENST00000313174.7_Missense_Mutation_p.T541I|DACH1_ENST00000354591.4_Missense_Mutation_p.T487I	p.T689I	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	10	2488	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	739			DACHbox-C.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.2066C>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.172072	0.78452	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.34072	1.41;1.42;1.42;1.38	5.62	5.62	0.85841	.	0.051334	0.85682	D	0.000000	T	0.57975	0.2090	M	0.62723	1.935	0.42123	D	0.991431	D;D;D	0.69078	0.977;0.997;0.978	P;D;P	0.66602	0.787;0.945;0.815	T	0.53968	-0.8363	10	0.40728	T	0.16	-6.4987	19.6611	0.95871	0.0:0.0:1.0:0.0	.	485;539;687	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	I	689;541;487;741;741	ENSP00000304994:T689I;ENSP00000318506:T541I;ENSP00000346604:T487I;ENSP00000352712:T741I	ENSP00000304994:T689I	T	-	2	0	DACH1	70947297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.643000	0.89663	0.655000	0.94253	ACA		0.423	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		80	240	0	0	0	1	0	80	240					A	72049296	G	A	72049296	3	1	102	1	0	0	0	0	1	0	0	0	4231	1377	48	2	68	2	DACH1	13	72049296	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1367480	72049296	43120582	227	35082											
ARHGEF7	8874	broad.mit.edu	37	chr13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggccctcgtctcaccGcataaagtcttttgactccc	7	17	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					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)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				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						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184	178	180					13																	111862267		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862267G>A	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.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	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)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		8	1136	0	0	0	1	0	8	1136					A	111862267	G	A	111862267	3	1	102	1	0	0	0	0	1	0	0	0	911	1087	38	1	467	1	ARHGEF7	13	111862267	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	39812971	111862267	3307611	228	35083											
OR4Q3	441669	broad.mit.edu	37	chr14	20215850	20215850	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttaggggatttcctacaGcagggcaagagcatctcttt	11	8	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:20215850G>A	ENST00000331723.1	+	1	264	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	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)|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)		ATTTCCTACAGCAGGGCAAGA	0.453																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(262-264)caG>caA		olfactory receptor, family 4, subfamily Q, member 3							83	84	84					14																	20215850		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215850G>A	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.264G>A	14.37:g.20215850G>A							p.Q88Q	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	264	+	all_cancers(95;0.00108)		88					Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.264G>A	CCDS32020.1																																																																																				0.453	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			162	557	0	0	0	1	0	162	557					A	20215850	G	A	20215850	2	1	102	1	0	0	0	0	0	0	0	1	11123	962	34	2		2	OR4Q3	14	20215850	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		20215850	87133690	229	35084											
NGDN	25983	broad.mit.edu	37	chr14	23945486	23945486	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggagaagaagcgtctagaaCgagccaagagacgggcattg	16	7	1	4			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:23945486C>T	ENST00000408901.3	+	8	611	c.583C>T	c.(583-585)Cga>Tga	p.R195*	NGDN_ENST00000397154.3_Nonsense_Mutation_p.R195*|NGDN_ENST00000556580.1_5'UTR	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	195					regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCGTCTAGAACGAGCCAAGAG	0.473																																						ENST00000397154.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12						c.(583-585)Cga>Tga		neuroguidin, EIF4E binding protein							72	73	73					14																	23945486		2203	4300	6503	SO:0001587	stop_gained	25983				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus		g.chr14:23945486C>T	AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"chromosome 14 open reading frame 120"	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.583C>T	14.37:g.23945486C>T	ENSP00000386134:p.Arg195*					NGDN_ENST00000408901.3_Nonsense_Mutation_p.R195*|NGDN_ENST00000556580.1_5'UTR	p.R195*			Q8NEJ9	NGDN_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	8	596	+	all_cancers(95;0.000251)		195					A8K760|Q9Y400	Nonsense_Mutation	SNP	ENST00000408901.3	37	c.583C>T	CCDS41926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.410545|5.410545	0.96072|0.96072	.|.	.|.	ENSG00000129460|ENSG00000129460	ENST00000408901;ENST00000397154|ENST00000556483	.|.	.|.	.|.	5.89|5.89	4.98|4.98	0.66077|0.66077	.|.	0.211551|.	0.40728|.	N|.	0.001026|.	.|T	.|0.70762	.|0.3261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70103	.|-0.4964	.|4	0.02654|.	T|.	1|.	-19.2174|-19.2174	14.907|14.907	0.70727|0.70727	0.149:0.851:0.0:0.0|0.149:0.851:0.0:0.0	.|.	.|.	.|.	.|.	X|M	195|142	.|.	ENSP00000380340:R195X|.	R|T	+|+	1|2	2|0	NGDN|NGDN	23015326|23015326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	3.550000|3.550000	0.53691|0.53691	1.440000|1.440000	0.47531|0.47531	0.563000|0.563000	0.77884|0.77884	CGA|ACG		0.473	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413782.3	NM_001042635		16	205	0	0	0	1	0	16	205					T	23945486	C	T	23945486	4	4	102	1	0	0	0	0	0	1	0	0	10435	528	19	1	613	1	NGDN	14	23945486	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3729636	23945486	83404054	230	35085											
LRRC16B	90668	broad.mit.edu	37	chr14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttatgccctgtggccatgCgggtggccgagggacacaac	15	11	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787						cytoplasm (GO:0005737)		p.R787W(3)		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)		TGTGGCCATGCGGGTGGCCGA	0.612																																						ENST00000342740.5																			3	Substitution - Missense(3)	p.R787W(3)	prostate(2)|lung(1)	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						c.(2359-2361)Cgg>Tgg		leucine rich repeat containing 16B							73	63	67					14																	24530760		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24530760C>T	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.2359C>T	14.37:g.24530760C>T	ENSP00000340467:p.Arg787Trp					LRRC16B_ENST00000334420.7_5'UTR	p.R787W	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	27	2513	+			787					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2359C>T	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955757	0.53293	.	.	ENSG00000186648	ENST00000342740	T	0.15718	2.4	5.27	3.36	0.38483	.	0.174329	0.40144	N	0.001165	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.62014	0.897	T	0.03166	-1.1065	10	0.87932	D	0	-14.9968	10.8426	0.46724	0.3396:0.6604:0.0:0.0	.	787	Q8ND23	LR16B_HUMAN	W	787	ENSP00000340467:R787W	ENSP00000340467:R787W	R	+	1	2	LRRC16B	23600600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.748000	0.26305	1.430000	0.47334	-0.182000	0.12963	CGG		0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		6	170	0	0	0	1	0	6	170					T	24530760	C	T	24530760	3	4	102	1	0	0	0	0	1	0	0	0	9010	759	27	1	2465	1	LRRC16B	14	24530760	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	585274	24530760	82818780	231	35086											
NID2	22795	broad.mit.edu	37	chr14	52507535	52507535	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accgtctcctctcccgggtaGaatgtaacttccatgtcatg	8	13	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:52507535G>A	ENST00000216286.5	-	8	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	NID2_ENST00000541773.1_Silent_p.F567F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	620	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)					CTCCCGGGTAGAATGTAACTT	0.463																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1858-1860)ttC>ttT		nidogen 2 (osteonidogen)							164	141	149					14																	52507535		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52507535G>A	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.1860C>T	14.37:g.52507535G>A						NID2_ENST00000541773.1_Silent_p.F567F	p.F620F	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			8	1859	-	Breast(41;0.0639)|all_epithelial(31;0.123)		620			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.1860C>T	CCDS9706.1																																																																																				0.463	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			140	265	0	0	0	1	0	140	265					A	52507535	G	A	52507535	2	1	102	1	0	0	0	0	0	0	0	1	10457	933	33	2		2	NID2	14	52507535	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	27976775	52507535	54842005	232	35087											
DAAM1	23002	broad.mit.edu	37	chr14	59787235	59787237	+	In_Frame_Del	DEL	GAA	GAA	-													ctctgctggctttagagaagGaagaagaagaagaaagaagt					rs141935137		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:59787235_59787237delGAA	ENST00000395125.1	+	4	396_398	c.373_375delGAA	c.(373-375)gaadel	p.E129del	DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	129	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)		TTTAGAGAAGGAAGAAGAAGAAG	0.325																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(373-375)del		dishevelled associated activator of morphogenesis 1																																				SO:0001651	inframe_deletion	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59787235_59787237delGAA	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.373_375delGAA	14.37:g.59787244_59787246delGAA	ENSP00000378557:p.Glu129del					DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del|DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del	p.E129del	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	4	396_398	+			129			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	In_Frame_Del	DEL	ENST00000395125.1	37	c.373_375delGAA	CCDS9737.1																																																																																				0.325	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		7	303						7	303	---	---	---	---	-	59787237	GAA	-	59787235	7	5	102	1	0	1	0	1	0	0	0	0	4226	1175	41	0	387	0	DAAM1	14	59787235	In_Frame_Del	DEL	GAA	TCGA-LB-A7SX-01A-11D-A33T-08	7279700	59787235	47562305	233	35088											
ZFYVE26	23503	broad.mit.edu	37	chr14	68275942	68275942	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggatgttctctggaatgtcaCcttggaggtcttctgacaat	11	8	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:68275942C>G	ENST00000347230.4	-	4	476	c.338G>C	c.(337-339)gGt>gCt	p.G113A	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G113A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	113					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)		TGGAATGTCACCTTGGAGGTC	0.458																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(337-339)gGt>gCt		zinc finger, FYVE domain containing 26							120	116	117					14																	68275942		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68275942C>G	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.338G>C	14.37:g.68275942C>G	ENSP00000251119:p.Gly113Ala					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G113A	p.G113A	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	4	476	-			113					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.338G>C	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.036094	0.19590	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26373	1.89;1.74	6.06	1.78	0.24846	.	0.933364	0.09213	N	0.832992	T	0.17831	0.0428	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27068	0.065;0.167;0.022	B;B;B	0.24269	0.036;0.052;0.006	T	0.34279	-0.9835	10	0.09084	T	0.74	-5.0E-4	6.2815	0.21009	0.0:0.5186:0.0:0.4814	.	113;113;113	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	A	113	ENSP00000251119:G113A;ENSP00000450603:G113A	ENSP00000251119:G113A	G	-	2	0	ZFYVE26	67345695	0.064000	0.20934	0.854000	0.33618	0.991000	0.79684	1.535000	0.36061	0.457000	0.26962	0.655000	0.94253	GGT		0.458	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		13	406	0	0	0	1	0	13	406					G	68275942	C	G	68275942	3	3	102	1	0	0	0	0	1	0	0	0	17721	507	18	5	7437	5	ZFYVE26	14	68275942	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	8488707	68275942	39073598	234	35089											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		8	618						8	618	---	---	---	---	-	95921890	CTC	-	95921888	7	5	102	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	27645946	95921888	11427652	235	35090											
TRAF3	7187	broad.mit.edu	37	chr14	103372120	103372120	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcggatctgcccgatccctGataagtagctggggaggtgg	15	9	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:103372120G>A	ENST00000560371.1	+	11	1923	c.1706G>A	c.(1705-1707)tGa>tAa	p.*569*	TRAF3_ENST00000392745.2_Silent_p.*569*|TRAF3_ENST00000351691.5_Silent_p.*544*|TRAF3_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000539721.1_Silent_p.*486*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	0					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)		CCCGATCCCTGATAAGTAGCT	0.453																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.(1705-1707)tGa>tAa		TNF receptor-associated factor 3							21	25	24					14																	103372120		2146	4273	6419	SO:0001819	synonymous_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103372120G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1706G>A	14.37:g.103372120G>A						TRAF3_ENST00000351691.5_Silent_p.*544*|TRAF3_ENST00000392745.2_Silent_p.*569*|TRAF3_ENST00000347662.4_Silent_p.*544*|TRAF3_ENST00000539721.1_Silent_p.*486*	p.*569*	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	11	1923	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	0					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.1706G>A	CCDS9975.1																																																																																				0.453	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		44	98	0	0	0	1	0	44	98					A	103372120	G	A	103372120	2	1	102	1	0	0	0	0	0	0	0	1	16492	1285	45	2		2	TRAF3	14	103372120	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	7450232	103372120	3977420	236	35091											
AHNAK2	113146	broad.mit.edu	37	chr14	105409470	105409470	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	acaccatccagctttgctctCggggcctggacgtccacctc	9	17	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr14:105409470C>T	ENST00000333244.5	-	7	12437	c.12318G>A	c.(12316-12318)ccG>ccA	p.P4106P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4106						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)			GCTTTGCTCTCGGGGCCTGGA	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12316-12318)ccG>ccA		AHNAK nucleoprotein 2							190	199	196					14																	105409470		1961	4143	6104	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409470C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12318G>A	14.37:g.105409470C>T						AHNAK2_ENST00000557457.1_Intron	p.P4106P	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12437	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4106					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.12318G>A	CCDS45177.1																																																																																				0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	1338	0	0	0	1	0	9	1338					T	105409470	C	T	105409470	2	4	102	1	0	0	0	0	0	0	0	1	415	871	31	1		1	AHNAK2	14	105409470	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2037350	105409470	1940070	237	35092											
NIPA2	81614	broad.mit.edu	37	chr15	23021237	23021238	+	Frame_Shift_Ins	INS	-	-	T													ctggcaagtcgaaggaggccINScttttttttcaaaatgaaac					rs145147241|rs7170838	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:23021237_23021238insT	ENST00000337451.3	-	4	711_712	c.99_100insA	c.(97-102)aagggcfs	p.G34fs	NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000559571.1_5'Flank|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.G34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.G34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	34						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CGAAGGAGGCCCTTTTTTTTCA	0.446																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(97-102)aagcctfs		non imprinted in Prader-Willi/Angelman syndrome 2																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23021237_23021238insT	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.99_100insA	15.37:g.23021237_23021238insT	ENSP00000337618:p.Gly34fs					NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.P34fs	p.P34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	4	711_712	-		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)	34					F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.99_100insA	CCDS10010.1																																																																																				0.446	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		7	583						7	583	---	---	---	---	T	23021238	-	T	23021237	7	5	102	1	0	1	1	0	0	0	0	0	10465	623	22	0	1002	0	NIPA2	15	23021237	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08		23021237	79510155	238	35093											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		13	1028						13	1028	---	---	---	---	-	34393993	AGC	-	34393991	7	5	102	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-LB-A7SX-01A-11D-A33T-08	11372754	34393991	68137401	239	35094											
SECISBP2L	9728	broad.mit.edu	37	chr15	49304939	49304939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccacagaattaaaggatGtcaaacagggctgacttttg	10	7	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:49304939G>A	ENST00000559471.1	-	12	1900	c.1637C>T	c.(1636-1638)aCa>aTa	p.T546I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T501I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	546							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATTAAAGGATGTCAAACAGGG	0.348																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(1636-1638)aCa>aTa		SECIS binding protein 2-like							122	128	126					15																	49304939		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49304939G>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1637C>T	15.37:g.49304939G>A	ENSP00000453854:p.Thr546Ile					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T501I	p.T546I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			12	1900	-			546					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.1637C>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384582	0.42308	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72394	-0.65	5.76	4.84	0.62591	.	0.433340	0.26248	N	0.025473	T	0.60405	0.2266	L	0.39147	1.195	0.30747	N	0.745561	B;B	0.20988	0.012;0.05	B;B	0.18561	0.006;0.022	T	0.62115	-0.6922	10	0.54805	T	0.06	.	9.5017	0.39022	0.0802:0.2533:0.6665:0.0	.	546;501	Q93073;Q93073-2	SBP2L_HUMAN;.	I	501;546	ENSP00000261847:T501I	ENSP00000261847:T501I	T	-	2	0	SECISBP2L	47092231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.936000	0.48971	1.433000	0.47394	0.650000	0.86243	ACA		0.348	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		19	513	0	0	0	1	0	19	513					A	49304939	G	A	49304939	3	1	102	1	0	0	0	0	1	0	0	0	14057	1377	48	2	1696	2	SECISBP2L	15	49304939	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	14910948	49304939	53226453	240	35095											
DMXL2	23312	broad.mit.edu	37	chr15	51772810	51772810	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaccaccttgggccccatGaaggctacagtagctgagaa	10	13	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:51772810G>A	ENST00000251076.5	-	24	6780	c.6493C>T	c.(6493-6495)Cat>Tat	p.H2165Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2165						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)		TGGGCCCCATGAAGGCTACAG	0.428																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(6493-6495)Cat>Tat		Dmx-like 2							101	105	104					15																	51772810		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51772810G>A	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.6493C>T	15.37:g.51772810G>A	ENSP00000251076:p.His2165Tyr					DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y	p.H2165Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	24	6780	-			2165					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.6493C>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553488	0.86127	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.79749	-1.3;-1.3;-1.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	M	0.76727	2.345	0.80722	D	1	D;P;D;D	0.89917	1.0;0.936;0.994;0.998	D;P;D;D	0.87578	0.998;0.885;0.977;0.948	D	0.89821	0.3989	10	0.59425	D	0.04	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	2165;1529;2165;2165	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	Y	2165;2165;1529	ENSP00000251076:H2165Y;ENSP00000441858:H2165Y;ENSP00000400855:H1529Y	ENSP00000251076:H2165Y	H	-	1	0	DMXL2	49560102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.729000	0.93468	0.655000	0.94253	CAT		0.428	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		8	513	0	0	0	1	0	8	513					A	51772810	G	A	51772810	3	1	102	1	0	0	0	0	1	0	0	0	4611	1290	45	2	2700	2	DMXL2	15	51772810	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2467871	51772810	50758582	241	35096											
MEGF11	84465	broad.mit.edu	37	chr15	66210374	66210374	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgatagggctgcaggtcccGttgttggcacaggagcagag	16	9	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:66210374G>A	ENST00000409699.2	-	16	2188	c.2016C>T	c.(2014-2016)aaC>aaT	p.N672N	MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395614.1_De_novo_Start_OutOfFrame			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	672	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612																																						ENST00000395614.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19								multiple EGF-like-domains 11							94	69	77					15																	66210374		2201	4299	6500	SO:0001819	synonymous_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66210374G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2016C>T	15.37:g.66210374G>A						MEGF11_ENST00000409699.2_Silent_p.N672N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000360698.4_Silent_p.N672N				A6BM72	MEG11_HUMAN			0	2076	-								Q17R86|Q6UXS5|Q8ND91|Q96KG6	Translation_Start_Site	SNP	ENST00000409699.2	37		CCDS10213.2																																																																																				0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		48	202	0	0	0	1	0	48	202					A	66210374	G	A	66210374	2	1	102	1	0	0	0	0	0	0	0	1	9502	1136	40	1		1	MEGF11	15	66210374	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	14437564	66210374	36321018	242	35097											
NOX5	79400	broad.mit.edu	37	chr15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-													cctccccgacaggtgtcgctCtgctgctgctgctcctcctc					rs370141395		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|RP11-809H16.4_ENST00000559495.1_RNA	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		10	914						10	914	---	---	---	---	-	69328210	CTG	-	69328208	7	5	102	1	0	1	0	1	0	0	0	0	10601	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-LB-A7SX-01A-11D-A33T-08	3117834	69328208	33203184	243	35098											
GLCE	26035	broad.mit.edu	37	chr15	69560981	69560981	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggctagtaaggaaccaggatGagaaaggtggctggccaatt	15	6	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:69560981G>A	ENST00000261858.2	+	5	1480	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	GLCE_ENST00000559420.2_Missense_Mutation_p.E354K|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	418					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GAACCAGGATGAGAAAGGTGG	0.493																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(1252-1254)Gag>Aag		glucuronic acid epimerase							78	71	74					15																	69560981		2200	4298	6498	SO:0001583	missense	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69560981G>A	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.1252G>A	15.37:g.69560981G>A	ENSP00000261858:p.Glu418Lys					GLCE_ENST00000559420.2_Missense_Mutation_p.E354K|GLCE_ENST00000559500.1_3'UTR	p.E418K	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			5	1480	+			418					Q6GUQ2	Missense_Mutation	SNP	ENST00000261858.2	37	c.1252G>A	CCDS32277.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841867	0.32513	.	.	ENSG00000138604	ENST00000261858	T	0.41065	1.01	5.27	5.27	0.74061	.	0.220087	0.47852	D	0.000208	T	0.25606	0.0623	N	0.19112	0.55	0.46356	D	0.999008	B	0.18461	0.028	B	0.18871	0.023	T	0.09422	-1.0675	10	0.11794	T	0.64	-4.9075	11.0182	0.47703	0.0863:0.0:0.9137:0.0	.	418	O94923	GLCE_HUMAN	K	418	ENSP00000261858:E418K	ENSP00000261858:E418K	E	+	1	0	GLCE	67348035	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.921000	0.87530	2.470000	0.83445	0.557000	0.71058	GAG		0.493	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		5	406	0	0	0	1	0	5	406					A	69560981	G	A	69560981	3	1	102	1	0	0	0	0	1	0	0	0	6461	1291	45	2	1262	2	GLCE	15	69560981	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	232773	69560981	32970411	244	35099											
LOXL1	4016	broad.mit.edu	37	chr15	74239478	74239478	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccacaggcaagaaggtggccGagggccacaaggccagtttc	14	12	0	1	rs141057976		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:74239478G>A	ENST00000261921.7	+	4	1746	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	474	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAAGGTGGCCGAGGGCCACAA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22874	0.0		0.001	False		,,,				2504	0.0					ENST00000261921.7																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1420-1422)Gag>Aag		lysyl oxidase-like 1		G	LYS/GLU	0,4396		0,0,2198	73	65	68		1420	4.8	1	15	dbSNP_134	68	1,8593	1.2+/-3.3	0,1,4296	no	missense	LOXL1	NM_005576.2	56	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	474/575	74239478	1,12989	2198	4297	6495	SO:0001583	missense	4016				protein deamination	extracellular space	copper ion binding	g.chr15:74239478G>A	L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1420G>A	15.37:g.74239478G>A	ENSP00000261921:p.Glu474Lys						p.E474K	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN			4	1746	+			474			Lysyl-oxidase like.		Q6NUL3|Q96BW7	Missense_Mutation	SNP	ENST00000261921.7	37	c.1420G>A	CCDS10253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.372594	0.95923	0.0	1.16E-4	ENSG00000129038	ENST00000261921;ENST00000395162	T	0.40225	1.04	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79940	-0.1591	10	0.87932	D	0	.	16.4684	0.84092	0.0:0.0:1.0:0.0	.	474	Q08397	LOXL1_HUMAN	K	474;336	ENSP00000261921:E474K	ENSP00000261921:E474K	E	+	1	0	LOXL1	72026531	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	9.569000	0.98170	2.222000	0.72286	0.462000	0.41574	GAG		0.577	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2	NM_005576		53	224	0	0	0	1	0	53	224					A	74239478	G	A	74239478	3	1	102	1	0	0	0	0	1	0	0	0	8937	1059	37	1	1434	1	LOXL1	15	74239478	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4678497	74239478	28291914	245	35100											
SNX33	257364	broad.mit.edu	37	chr15	75949553	75949553	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgcgcatgtatgacaacctCtgaccgcgtgtgcctgggcc	12	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:75949553C>T	ENST00000308527.5	+	2	2919	c.1722C>T	c.(1720-1722)ctC>ctT	p.L574L		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	574	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ATGACAACCTCTGACCGCGTG	0.612																																						ENST00000308527.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						c.(1720-1722)ctC>ctT		sorting nexin 33							113	116	115					15																	75949553		2197	4294	6491	SO:0001819	synonymous_variant	257364				cell communication		phosphatidylinositol binding|protein binding	g.chr15:75949553C>T	AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1722C>T	15.37:g.75949553C>T							p.L574L	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN			2	2919	+			574			BAR.		B1NM17	Silent	SNP	ENST00000308527.5	37	c.1722C>T	CCDS10283.1																																																																																				0.612	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1	NM_153271		6	778	0	0	0	1	0	6	778					T	75949553	C	T	75949553	2	4	102	1	0	0	0	0	0	0	0	1	14953	900	32	2		2	SNX33	15	75949553	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1710075	75949553	26581839	246	35101											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84652038	84652038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactgtgtgaccttattaccCccagtgaggccacatataca	7	12	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:84652038C>T	ENST00000286744.5	+	21	3882	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1220S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1220	Ig-like C2-type 2.					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)			CCTTATTACCCCCAGTGAGGC	0.348																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(3658-3660)Ccc>Tcc		ADAMTS-like 3							119	127	125					15																	84652038		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84652038C>T	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.3658C>T	15.37:g.84652038C>T	ENSP00000286744:p.Pro1220Ser					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P1220S	p.P1220S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3882	+			1220			Ig-like C2-type 2.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3658C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.748472	0.00669	.	.	ENSG00000156218	ENST00000286744	T	0.11821	2.74	5.13	2.9	0.33743	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.674572	0.12270	N	0.483872	T	0.05960	0.0155	N	0.11651	0.15	0.09310	N	1	B;B	0.17268	0.004;0.021	B;B	0.16289	0.007;0.015	T	0.39078	-0.9631	10	0.06236	T	0.91	.	7.8817	0.29627	0.244:0.4028:0.3532:0.0	.	1220;1220	P82987-2;P82987	.;ATL3_HUMAN	S	1220	ENSP00000286744:P1220S	ENSP00000286744:P1220S	P	+	1	0	ADAMTSL3	82443042	0.003000	0.15002	0.046000	0.18839	0.277000	0.26821	1.060000	0.30530	1.245000	0.43885	0.557000	0.71058	CCC		0.348	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		21	779	0	0	0	1	0	21	779					T	84652038	C	T	84652038	3	4	102	1	0	0	0	0	1	0	0	0	276	623	22	2	3736	2	ADAMTSL3	15	84652038	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	8702485	84652038	17879354	247	35102											
NTRK3	4916	broad.mit.edu	37	chr15	88524482	88524482	+	Intron	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccttgggtaagacacttcCccactctggacctcaggttc	9	14	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr15:88524482C>A	ENST00000360948.2	-	14	1747				NTRK3_ENST00000540489.2_Silent_p.G565G|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000317501.3_Silent_p.G565G|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000557856.1_Intron	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						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)			aagacacttccccactctgga	0.413			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												ENST00000317501.3				Dom	yes		15	15q25	4916	T	"neurotrophic tyrosine kinase, receptor, type 3"			"E, M"	ETV6		"congenital fibrosarcoma, Secretory breast "	ETV6/NTRK3(238)	0				breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1693-1695)ggG>ggT		neurotrophic tyrosine kinase, receptor, type 3							97	88	91					15																	88524482		2200	4298	6498	SO:0001627	intron_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88524482C>A	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.1586-40498G>T	15.37:g.88524482C>A		TSP Lung(13;0.10)				NTRK3_ENST00000540489.2_Silent_p.G565G|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000394480.1_Intron|NTRK3_ENST00000360948.2_Intron	p.G565G	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1856	-			0			Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.1695G>T	CCDS32322.1																																																																																				0.413	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				22	50	1	0	4.35082e-09	1	4.61103e-09	22	50					A	88524482	C	A	88524482	1	1	102	0	1	0	0	0	0	0	0	0	10750	610	22	3		3	NTRK3	15	88524482	Intron	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3872444	88524482	14006910	248	35103											
RAB11FIP3	9727	broad.mit.edu	37	chr16	476687	476687	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttcgtccgcatcgaggacttCatccagtttgctacggtcta	9	12	2	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:476687C>T	ENST00000262305.4	+	1	1069	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RAB11FIP3_ENST00000457159.1_Silent_p.F227F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	227	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)				TCGAGGACTTCATCCAGTTTG	0.706																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(679-681)ttC>ttT		RAB11 family interacting protein 3 (class II)							28	37	34					16																	476687		2198	4298	6496	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:476687C>T	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.681C>T	16.37:g.476687C>T						RAB11FIP3_ENST00000457159.1_Silent_p.F227F	p.F227F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			1	1069	+		Hepatocellular(16;0.0218)	227			EF-hand 1.		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.681C>T	CCDS32351.1																																																																																				0.706	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		5	209	0	0	0	1	0	5	209					T	476687	C	T	476687	2	4	102	1	0	0	0	0	0	0	0	1	12945	825	29	2		2	RAB11FIP3	16	476687	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08		476687	89878066	249	35104											
PIGQ	9091	broad.mit.edu	37	chr16	633027	633027	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcagagaggggacaagCaggactgagggaactgctgg	20	6	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:633027C>A	ENST00000026218.5	+	10	1764	c.1676C>A	c.(1675-1677)gCa>gAa	p.A559E	PIGQ_ENST00000321878.5_Missense_Mutation_p.Q580K|PIGQ_ENST00000409527.2_Missense_Mutation_p.Q580K	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	559					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)				AGGGGACAAGCAGGACTGAGG	0.667																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1738-1740)Cag>Aag		phosphatidylinositol glycan anchor biosynthesis, class Q							55	57	56					16																	633027		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633027C>A	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.1676C>A	16.37:g.633027C>A	ENSP00000026218:p.Ala559Glu					PIGQ_ENST00000409527.2_Missense_Mutation_p.Q580K|PIGQ_ENST00000026218.5_Missense_Mutation_p.A559E	p.Q580K	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			11	1897	+		Hepatocellular(780;0.00335)	0					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1738C>A	CCDS10411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.93|12.93	2.085822|2.085822	0.36758|0.36758	.|.	.|.	ENSG00000007541|ENSG00000007541	ENST00000026218|ENST00000409527;ENST00000321878;ENST00000540241	T|T;T	0.22945|0.44482	1.93|0.92;0.92	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	1.882170|.	0.02546|.	N|.	0.095120|.	T|T	0.28995|0.28995	0.0720|0.0720	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;P|B	0.89917|0.23249	1.0;0.506|0.082	D;B|B	0.76575|0.24269	0.988;0.044|0.052	T|T	0.12656|0.12656	-1.0539|-1.0539	10|9	0.72032|0.62326	D|D	0.01|0.03	-6.9865|-6.9865	18.0399|18.0399	0.89316|0.89316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129;559|580	B3KRR7;Q9BRB3|Q9BRB3-2	.;PIGQ_HUMAN|.	E|K	559|580;580;138	ENSP00000026218:A559E|ENSP00000386760:Q580K;ENSP00000326674:Q580K	ENSP00000026218:A559E|ENSP00000326674:Q580K	A|Q	+|+	2|1	0|0	PIGQ|PIGQ	573028|573028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	1.786000|1.786000	0.38694|0.38694	2.618000|2.618000	0.88619|0.88619	0.462000|0.462000	0.41574|0.41574	GCA|CAG		0.667	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		27	548	1	0	1.32181e-22	1	1.4352e-22	27	548					A	633027	C	A	633027	3	1	102	1	0	0	0	0	1	0	0	0	11938	711	25	3	1776	3	PIGQ	16	633027	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	156340	633027	89721726	250	35105											
TSC2	7249	broad.mit.edu	37	chr16	2130188	2130188	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatggtcttcgagttggCgccctggacgtgccggcctc	15	14	1	0	rs373968155		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:2130188C>T	ENST00000219476.3	+	30	4050	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	TSC2_ENST00000353929.4_Silent_p.G1097G|TSC2_ENST00000439673.2_Silent_p.G1060G|TSC2_ENST00000568454.1_Silent_p.G1107G|TSC2_ENST00000382538.6_Silent_p.G1048G|TSC2_ENST00000350773.4_Silent_p.G1140G|TSC2_ENST00000401874.2_Silent_p.G1096G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1140					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)				TTCGAGTTGGCGCCCTGGACG	0.632			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"D, Mis, N, F, S"	tuberous sclerosis 2 gene			"E, O"		"hamartoma, renal cell"			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3418-3420)ggC>ggT		tuberous sclerosis 2		C	,,	4,4392	8.1+/-20.4	0,4,2194	107	114	112		3420,3288,3420	-6.7	0.1	16		112	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	,,	0,4,6491	TT,TC,CC		0.0,0.091,0.0308	,,	1140/1808,1096/1741,1140/1785	2130188	4,12986	2198	4297	6495	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2130188C>T	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.3420C>T	16.37:g.2130188C>T						TSC2_ENST00000353929.4_Silent_p.G1097G|TSC2_ENST00000350773.4_Silent_p.G1140G|TSC2_ENST00000401874.2_Silent_p.G1096G|TSC2_ENST00000382538.6_Silent_p.G1048G|TSC2_ENST00000439673.2_Silent_p.G1060G|TSC2_ENST00000568454.1_Silent_p.G1107G	p.G1140G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			30	4050	+		Hepatocellular(780;0.0202)	1140					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.3420C>T	CCDS10458.1																																																																																				0.632	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		7	1203	0	0	0	1	0	7	1203					T	2130188	C	T	2130188	2	4	102	1	0	0	0	0	0	0	0	1	16659	755	27	1		1	TSC2	16	2130188	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1497161	2130188	88224565	251	35106											
SRRM2	23524	broad.mit.edu	37	chr16	2817341	2817341	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcggccatgaacttggCcagccccagaacagcggtgg	14	13	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:2817341C>T	ENST00000301740.8	+	11	7361	c.6812C>T	c.(6811-6813)gCc>gTc	p.A2271V	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2271	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATGAACTTGGCCAGCCCCAGA	0.637																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6811-6813)gCc>gTc		serine/arginine repetitive matrix 2							80	84	83					16																	2817341		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817341C>T	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.6812C>T	16.37:g.2817341C>T	ENSP00000301740:p.Ala2271Val						p.A2271V	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7361	+			2271			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6812C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784594	0.49997	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.76839	-1.05	5.77	5.77	0.91146	.	0.185465	0.38436	N	0.001695	T	0.70885	0.3275	L	0.32530	0.975	0.33865	D	0.634275	B	0.30793	0.295	B	0.32211	0.142	T	0.78934	-0.2008	10	0.87932	D	0	-3.7983	15.4828	0.75542	0.0:1.0:0.0:0.0	.	2271	Q9UQ35	SRRM2_HUMAN	V	2271;1523	ENSP00000301740:A2271V	ENSP00000301740:A2271V	A	+	2	0	SRRM2	2757342	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.305000	0.59110	2.728000	0.93425	0.655000	0.94253	GCC		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			7	1034	0	0	0	1	0	7	1034					T	2817341	C	T	2817341	3	4	102	1	0	0	0	0	1	0	0	0	15221	739	26	2	6850	2	SRRM2	16	2817341	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	687153	2817341	87537412	252	35107											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	13	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158	170	166					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		9	1480	0	0	0	1	0	9	1480					T	3293588	C	T	3293588	2	4	102	1	0	0	0	0	0	0	0	1	9500	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	476247	3293588	87061165	253	35108											
NAGPA	51172	broad.mit.edu	37	chr16	5083678	5083679	+	Frame_Shift_Del	DEL	GC	GC	-													cgtgtgcagtcccgggggagGcgcgcgcgcgcgcgtggata							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5083678_5083679delGC	ENST00000312251.3	-	2	156_157	c.137_138delGC	c.(136-138)cgcfs	p.R46fs	NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|ALG1_ENST00000588623.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	46					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)	CCCGGGGGAGGCGCGCGCGCGC	0.767																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(136-138)cfs		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)			96,2314		9,78,1118						-9.7	0			9	252,5272		19,214,2529	no	frameshift	NAGPA	NM_016256.3		28,292,3647	A1A1,A1R,RR		4.5619,3.9834,4.3862				348,7586				SO:0001589	frameshift_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083678_5083679delGC	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.137_138delGC	16.37:g.5083688_5083689delGC	ENSP00000310998:p.Arg46fs					RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR	p.R46fs	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			2	156_157	-			46					B2RAS1|Q96EJ8	Frame_Shift_Del	DEL	ENST00000312251.3	37	c.137_138delGC	CCDS10527.1																																																																																				0.767	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		8	207						8	207	---	---	---	---	-	5083679	GC	-	5083678	7	5	102	1	0	1	0	1	0	0	0	0	10185	1190	42	0	1445	0	NAGPA	16	5083678	Frame_Shift_Del	DEL	GC	TCGA-LB-A7SX-01A-11D-A33T-08	1790090	5083678	85271075	254	35109											
FAM86A	196483	broad.mit.edu	37	chr16	5141882	5141882	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgtccaaaggctctgtGtggacagcctcgtgctgggg	15	11	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:5141882G>A	ENST00000427587.4	-	4	323	c.255C>T	c.(253-255)caC>caT	p.H85H	FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	85						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AAGGCTCTGTGTGGACAGCCT	0.547																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(253-255)caC>caT		family with sequence similarity 86, member A							36	34	35					16																	5141882		2197	4300	6497	SO:0001819	synonymous_variant	196483							g.chr16:5141882G>A	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.255C>T	16.37:g.5141882G>A						FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Intron	p.H85H	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			4	323	-			85					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.255C>T	CCDS10529.1																																																																																				0.547	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		87	240	0	0	0	1	0	87	240					A	5141882	G	A	5141882	2	1	102	1	0	0	0	0	0	0	0	1	5668	1368	48	2		2	FAM86A	16	5141882	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	58204	5141882	85212871	255	35110											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				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						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	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.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	799						7	799	---	---	---	---	-	15729984	CCA	-	15729982	7	5	102	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-LB-A7SX-01A-11D-A33T-08	10588100	15729982	74624771	256	35111											
XYLT1	64131	broad.mit.edu	37	chr16	17353277	17353277	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gttgctgttgtcgacattctCaaagtctttggggacagagt	12	7	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:17353277C>G	ENST00000261381.6	-	3	565	c.481G>C	c.(481-483)Gag>Cag	p.E161Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	161					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						TCGACATTCTCAAAGTCTTTG	0.502																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(481-483)Gag>Cag		xylosyltransferase I							138	126	130					16																	17353277		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17353277C>G	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.481G>C	16.37:g.17353277C>G	ENSP00000261381:p.Glu161Gln						p.E161Q	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	565	-			161					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.481G>C	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171543	0.94807	.	.	ENSG00000103489	ENST00000261381	T	0.07688	3.17	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.24586	0.0596	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.60236	0.871	T	0.00045	-1.2218	10	0.66056	D	0.02	-38.7384	18.8353	0.92159	0.0:1.0:0.0:0.0	.	161	Q86Y38	XYLT1_HUMAN	Q	161	ENSP00000261381:E161Q	ENSP00000261381:E161Q	E	-	1	0	XYLT1	17260778	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.328000	0.79160	2.688000	0.91661	0.655000	0.94253	GAG		0.502	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		150	477	0	0	0	1	0	150	477					G	17353277	C	G	17353277	3	3	102	1	0	0	0	0	1	0	0	0	17517	835	29	5	2438	5	XYLT1	16	17353277	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1623295	17353277	73001476	257	35112											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126379	19126379	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcgaggagccagcgcTggccccggccttccgcggct	16	17	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:19126379T>A	ENST00000381440.3	+	1	1126	c.596T>A	c.(595-597)cTg>cAg	p.L199Q	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	199						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAGCCAGCGCTGGCCCCGGCC	0.701											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000381440.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(595-597)cTg>cAg		inositol 1,4,5-trisphosphate receptor interacting protein-like 2							11	15	13					16																	19126379		2146	4212	6358	SO:0001583	missense	162073					integral to membrane		g.chr16:19126379T>A		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"inositol 1,4,5-triphosphate receptor interacting protein-like 2"				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.596T>A	16.37:g.19126379T>A	ENSP00000370849:p.Leu199Gln		OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	730	CTD-2349B8.1_ENST00000564808.2_Intron	p.L199Q	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN			1	1126	+			199						Missense_Mutation	SNP	ENST00000381440.3	37	c.596T>A	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	T	8.250	0.808707	0.16467	.	.	ENSG00000205730	ENST00000381440	T	0.19250	2.16	4.91	3.81	0.43845	.	1.686950	0.05100	U	0.486938	T	0.25158	0.0611	N	0.19112	0.55	0.29438	N	0.859323	D	0.71674	0.998	P	0.61800	0.894	T	0.15292	-1.0442	10	0.11182	T	0.66	-8.1361	6.7379	0.23419	0.0:0.0837:0.1545:0.7618	.	199	Q3MIP1	IPIL2_HUMAN	Q	199	ENSP00000370849:L199Q	ENSP00000370849:L199Q	L	+	2	0	ITPRIPL2	19033880	0.524000	0.26282	0.167000	0.22817	0.046000	0.14306	1.512000	0.35812	1.829000	0.53265	0.533000	0.62120	CTG		0.701	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3	NM_001034841		9	230	0	0	0	1	0	9	230					A	19126379	T	A	19126379	3	1	102	1	0	0	0	0	1	0	0	0	7955	1580	55	5	598	5	ITPRIPL2	16	19126379	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	1773102	19126379	71228374	258	35113											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		11	1418						11	1418	---	---	---	---	-	20370702	CCA	-	20370700	7	5	102	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-LB-A7SX-01A-11D-A33T-08	1244321	20370700	69984053	259	35114											
SH2B1	25970	broad.mit.edu	37	chr16	28877903	28877903	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcagtgggtcgctctgtccGaggctcagtccgtggcatcc	13	13	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:28877903G>A	ENST00000322610.8	+	4	927	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	163	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CGCTCTGTCCGAGGCTCAGTC	0.652																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(487-489)cGa>cAa		SH2B adaptor protein 1							87	82	84					16																	28877903		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877903G>A	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.488G>A	16.37:g.28877903G>A	ENSP00000321221:p.Arg163Gln					SH2B1_ENST00000359285.5_Missense_Mutation_p.R163Q|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.R163Q|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.R163Q	p.R163Q	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			1	3779	+			163			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.488G>A	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663858	0.67700	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.51325	0.71;0.72;0.73;0.73	3.95	3.95	0.45737	.	0.218237	0.26692	N	0.022987	T	0.40979	0.1139	N	0.14661	0.345	0.41978	D	0.990788	D;D;D	0.63880	0.991;0.974;0.993	P;P;P	0.51079	0.658;0.565;0.546	T	0.44711	-0.9310	10	0.46703	T	0.11	-31.1346	14.9215	0.70841	0.0:0.0:1.0:0.0	.	163;163;163	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Q	163	ENSP00000321221:R163Q;ENSP00000352232:R163Q;ENSP00000378903:R163Q;ENSP00000337163:R163Q	ENSP00000321221:R163Q	R	+	2	0	SH2B1	28785404	0.996000	0.38824	0.972000	0.41901	0.952000	0.60782	2.673000	0.46858	2.055000	0.61198	0.455000	0.32223	CGA		0.652	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		162	486	0	0	0	1	0	162	486					A	28877903	G	A	28877903	3	1	102	1	0	0	0	0	1	0	0	0	14277	1058	37	1	490	1	SH2B1	16	28877903	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	8507203	28877903	61476850	260	35115											
SETD1A	9739	broad.mit.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-													gcagctcttccagctcctcaTcctcctcctcctcctcgtcc					rs531337171|rs569719496	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	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						CAGctcctcatcctcctcctcct	0.547																																						ENST00000262519.8																			0				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						c.(3127-3129)del		SET domain containing 1A																																				SO:0001651	inframe_deletion	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982809_30982811delTCC	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.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del						p.S1058del	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3813_3815	+			1058			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	ENST00000262519.8	37	c.3127_3129delTCC	CCDS32435.1																																																																																				0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		10	460						10	460	---	---	---	---	-	30982811	TCC	-	30982809	7	5	102	1	0	1	0	1	0	0	0	0	14180	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-LB-A7SX-01A-11D-A33T-08	2104906	30982809	59371944	261	35116											
ZNF646	9726	broad.mit.edu	37	chr16	31090857	31090857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcctggtgaaccaccGcaagatccaccagactggag	13	13	0	3	rs375913989		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:31090857G>A	ENST00000394979.2	+	1	3635	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H			O15015	ZN646_HUMAN	zinc finger protein 646	1071					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						GTGAACCACCGCAAGATCCAC	0.617																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3211-3213)cGc>cAc		zinc finger protein 646		G	HIS/ARG	0,4394		0,0,2197	138	144	142		3212	4.8	1	16		142	1,8599		0,1,4299	no	missense	ZNF646	NM_014699.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1071/1833	31090857	1,12993	2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090857G>A	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.3212G>A	16.37:g.31090857G>A	ENSP00000378429:p.Arg1071His					ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H	p.R1071H			O15015	ZN646_HUMAN			1	3635	+			1071					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3212G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.004264	0.74932	0.0	1.16E-4	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.52057	0.68;0.68	5.75	4.78	0.61160	.	.	.	.	.	T	0.33147	0.0853	L	0.31065	0.9	0.33612	D	0.603727	D	0.56521	0.976	B	0.41813	0.367	T	0.51498	-0.8698	9	0.62326	D	0.03	-15.9326	5.5911	0.17301	0.1514:0.0:0.6807:0.1679	.	1071	O15015-2	.	H	1071	ENSP00000300850:R1071H;ENSP00000378429:R1071H	ENSP00000300850:R1071H	R	+	2	0	ZNF646	30998358	0.512000	0.26186	1.000000	0.80357	0.987000	0.75469	1.081000	0.30791	1.389000	0.46526	0.563000	0.77884	CGC		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		8	1398	0	0	0	1	0	8	1398					A	31090857	G	A	31090857	3	1	102	1	0	0	0	0	1	0	0	0	18115	1087	38	1	3214	1	ZNF646	16	31090857	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	108048	31090857	59263896	262	35117											
CDH16	1014	broad.mit.edu	37	chr16	66944181	66944181	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattgagagtctggaggcGccaatcccgttgcaccgtgg	13	12	1	1	rs140255974		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:66944181G>A	ENST00000299752.4	-	15	2342	c.2149C>T	c.(2149-2151)Cgc>Tgc	p.R717C	CDH16_ENST00000565796.1_Missense_Mutation_p.R678C|CDH16_ENST00000570262.1_Missense_Mutation_p.R637C|CDH16_ENST00000394055.3_Missense_Mutation_p.R695C|CDH16_ENST00000568632.1_Missense_Mutation_p.R620C	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	717	Ectodomain G.		R -> H (in dbSNP:rs34621310).		calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R717C(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCTGGAGGCGCCAATCCCGT	0.612																																						ENST00000299752.4																			1	Substitution - Missense(1)	p.R717C(1)	urinary_tract(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2149-2151)Cgc>Tgc		cadherin 16, KSP-cadherin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	81	80	81		2083,2032,1858,2149	3.9	1	16	dbSNP_134	81	0,8600		0,0,4300	no	missense,missense,missense,missense	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	180,180,180,180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	695/808,678/791,620/733,717/830	66944181	1,12999	2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66944181G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2149C>T	16.37:g.66944181G>A	ENSP00000299752:p.Arg717Cys					CDH16_ENST00000565796.1_Missense_Mutation_p.R678C|CDH16_ENST00000568632.1_Missense_Mutation_p.R620C|CDH16_ENST00000394055.3_Missense_Mutation_p.R695C|CDH16_ENST00000570262.1_Missense_Mutation_p.R637C	p.R717C	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	15	2342	-		Ovarian(137;0.0563)	717		R -> H (in dbSNP:rs34621310).	Ectodomain G.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.2149C>T	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688609	0.68271	2.27E-4	0.0	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.56941	0.43;0.43	4.9	3.88	0.44766	.	0.130718	0.46145	D	0.000306	T	0.62768	0.2455	L	0.60455	1.87	0.49798	D	0.999825	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.66847	0.947;0.828;0.72	T	0.59847	-0.7377	10	0.38643	T	0.18	-8.2033	9.5158	0.39104	0.0:0.0:0.7746:0.2254	.	695;717;717	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	C	695;717;681	ENSP00000377619:R695C;ENSP00000299752:R717C	ENSP00000299752:R717C	R	-	1	0	CDH16	65501682	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.640000	0.46579	2.571000	0.86741	0.561000	0.74099	CGC		0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		5	472	0	0	0	1	0	5	472					A	66944181	G	A	66944181	3	1	102	1	0	0	0	0	1	0	0	0	3110	1087	38	1	356	1	CDH16	16	66944181	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	35853324	66944181	23410572	263	35118											
NFAT5	10725	broad.mit.edu	37	chr16	69681289	69681289	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccctccaacttcagtaacatGagcaccagttcctacaatga	5	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:69681289G>C	ENST00000354436.2	+	3	876	c.558G>C	c.(556-558)atG>atC	p.M186I	NFAT5_ENST00000567239.1_Missense_Mutation_p.M204I|NFAT5_ENST00000432919.1_Missense_Mutation_p.M204I|NFAT5_ENST00000349945.1_Missense_Mutation_p.M110I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M110I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M110I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	186					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						TCAGTAACATGAGCACCAGTT	0.488																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(328-330)atG>atC		nuclear factor of activated T-cells 5, tonicity-responsive							102	94	97					16																	69681289		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69681289G>C	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.558G>C	16.37:g.69681289G>C	ENSP00000346420:p.Met186Ile					NFAT5_ENST00000354436.2_Missense_Mutation_p.M186I|NFAT5_ENST00000432919.1_Missense_Mutation_p.M204I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M204I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M110I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M110I	p.M110I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			5	1882	+			186					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.330G>C	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815783	0.32145	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.34	5.34	0.76211	.	0.077300	0.85682	D	0.000000	T	0.19886	0.0478	N	0.24115	0.695	0.58432	D	0.999999	B;B;P	0.34699	0.055;0.055;0.464	B;B;B	0.32724	0.039;0.039;0.151	T	0.03684	-1.1013	10	0.24483	T	0.36	-2.0229	19.0353	0.92974	0.0:0.0:1.0:0.0	.	204;186;204	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	204;204;110;186;110	ENSP00000396538:M204I;ENSP00000338806:M110I;ENSP00000346420:M186I;ENSP00000377343:M110I	ENSP00000338806:M110I	M	+	3	0	NFAT5	68238790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.636000	0.74299	2.480000	0.83734	0.650000	0.86243	ATG		0.488	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		4	400	0	0	0	1	0	4	400					C	69681289	G	C	69681289	3	2	102	1	0	0	0	0	1	0	0	0	10402	1290	45	5	626	5	NFAT5	16	69681289	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2737108	69681289	20673464	264	35119											
CHST6	4166	broad.mit.edu	37	chr16	75513557	75513557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggttgaagagttggCccacgaaggacgagcccgag	17	9	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:75513557C>T	ENST00000332272.4	-	3	349	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CHST6_ENST00000390664.2_Missense_Mutation_p.G57D|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	57					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGAGTTGGCCCACGAAGGA	0.677																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(169-171)gGc>gAc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							39	32	35					16																	75513557		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513557C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.170G>A	16.37:g.75513557C>T	ENSP00000328983:p.Gly57Asp					RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.G57D	p.G57D	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	349	-			57					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.170G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671338	0.88348	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.83075	-1.68;-1.68	4.56	4.56	0.56223	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94326	0.7558	10	0.66056	D	0.02	.	14.8296	0.70137	0.0:1.0:0.0:0.0	.	57	Q9GZX3	CHST6_HUMAN	D	57	ENSP00000328983:G57D;ENSP00000375079:G57D	ENSP00000328983:G57D	G	-	2	0	CHST6	74071058	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.769000	0.85360	2.078000	0.62432	0.591000	0.81541	GGC		0.677	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		4	196	0	0	0	1	0	4	196					T	75513557	C	T	75513557	3	4	102	1	0	0	0	0	1	0	0	0	3417	739	26	2	1021	2	CHST6	16	75513557	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	5832268	75513557	14841196	265	35120											
CNTNAP4	85445	broad.mit.edu	37	chr16	76572111	76572111	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctcccacgctgcttcatttCatggtgatatgaagctgagc	10	11	2	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:76572111C>T	ENST00000476707.1	+	18	3242	c.3103C>T	c.(3103-3105)Cat>Tat	p.H1035Y	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.H1031Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1032					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						TGCTTCATTTCATGGTGATAT	0.368																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3091-3093)Cat>Tat		contactin associated protein-like 4							70	67	68					16																	76572111		1824	4094	5918	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76572111C>T	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.3103C>T	16.37:g.76572111C>T	ENSP00000417628:p.His1035Tyr					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.H1035Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H983Y|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H959Y	p.H1031Y	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			20	3476	+			1032					E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3091C>T		.	.	.	.	.	.	.	.	.	.	C	7.133	0.580282	0.13686	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.42821	D	0.000643	T	0.25195	0.0612	.	.	.	0.37798	D	0.927591	B;B;B	0.14805	0.001;0.001;0.011	B;B;B	0.15052	0.002;0.002;0.012	T	0.12630	-1.0540	9	0.09338	T	0.73	.	12.9629	0.58468	0.0:0.9168:0.0:0.0832	.	959;1035;1032	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	Y	1031;983;959;1035	ENSP00000306893:H1031Y;ENSP00000439733:H983Y;ENSP00000418741:H959Y;ENSP00000417628:H1035Y	ENSP00000306893:H1031Y	H	+	1	0	CNTNAP4	75129612	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.793000	0.47845	2.769000	0.95229	0.655000	0.94253	CAT		0.368	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		86	236	0	0	0	1	0	86	236					T	76572111	C	T	76572111	3	4	102	1	0	0	0	0	1	0	0	0	3658	826	29	2	3181	2	CNTNAP4	16	76572111	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1058554	76572111	13782642	266	35121											
IL17C	27189	broad.mit.edu	37	chr16	88706381	88706381	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccgccggccctgctcccgCgacggctcggggctccccac	13	22	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr16:88706381C>T	ENST00000244241.4	+	3	544	c.495C>T	c.(493-495)cgC>cgT	p.R165R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	165					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCTGCTCCCGCGACGGCTCGG	0.701																																						ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(493-495)cgC>cgT		interleukin 17C							29	35	33					16																	88706381		1999	4138	6137	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706381C>T	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.495C>T	16.37:g.88706381C>T							p.R165R	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	544	+			165					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.495C>T	CCDS42217.1																																																																																				0.701	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		12	379	0	0	0	1	0	12	379					T	88706381	C	T	88706381	2	4	102	1	0	0	0	0	0	0	0	1	7666	755	27	1		1	IL17C	16	88706381	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12134270	88706381	1648372	267	35122											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		85	91	0	0	0	1	0	85	91					A	7578212	G	A	7578212	4	1	102	1	0	0	0	0	0	1	0	0	16434	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		7578212	73616998	268	35123											
ALOXE3	59344	broad.mit.edu	37	chr17	8017832	8017832	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgaagagcagcgagatcGtcttggtggctgagtatcga	14	7	1	4	rs200646727		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:8017832G>A	ENST00000448843.2	-	6	990	c.650C>T	c.(649-651)aCg>aTg	p.T217M	ALOXE3_ENST00000380149.1_Missense_Mutation_p.T373M|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T349M	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	217	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						CAGCGAGATCGTCTTGGTGGC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		17716	0.001		0.0	False		,,,				2504	0.0					ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(1117-1119)aCg>aTg		arachidonate lipoxygenase 3		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	192	150	164		1046,650	4.2	1	17		164	0,8600		0,0,4300	yes	missense,missense	ALOXE3	NM_001165960.1,NM_021628.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	349/844,217/712	8017832	1,13005	2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8017832G>A	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.650C>T	17.37:g.8017832G>A	ENSP00000400581:p.Thr217Met					ALOXE3_ENST00000448843.2_Missense_Mutation_p.T217M|ALOXE3_ENST00000318227.3_Missense_Mutation_p.T349M	p.T373M			Q9BYJ1	LOXE3_HUMAN			5	1148	-			217			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1118C>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606478	0.46527	2.27E-4	0.0	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89681	-2.55;-2.55;-2.55	5.22	4.24	0.50183	Lipoxygenase, C-terminal (2);	0.286741	0.39985	N	0.001219	D	0.85932	0.5812	L	0.40543	1.245	0.41066	D	0.985412	P;D;D	0.56746	0.782;0.977;0.977	B;P;P	0.47915	0.189;0.561;0.561	D	0.86119	0.1567	10	0.51188	T	0.08	-16.8023	11.1503	0.48455	0.0899:0.0:0.91:0.0	.	349;217;217	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	M	373;349;217	ENSP00000369494:T373M;ENSP00000314879:T349M;ENSP00000400581:T217M	ENSP00000314879:T349M	T	-	2	0	ALOXE3	7958557	0.997000	0.39634	0.954000	0.39281	0.709000	0.40893	2.843000	0.48238	2.578000	0.87016	0.655000	0.94253	ACG		0.547	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			17	298	0	0	0	1	0	17	298					A	8017832	G	A	8017832	3	1	102	1	0	0	0	0	1	0	0	0	542	1145	40	1	1529	1	ALOXE3	17	8017832	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	439620	8017832	73177378	269	35124											
GIT1	28964	broad.mit.edu	37	chr17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-													gcgtagtgagctcgtccccaGgggggcccccaaagggcttc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)cctfs	p.P523fs	GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTCGTCCCCAGGGGGGCCCCC	0.652																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1567-1569)ctfs		G protein-coupled receptor kinase interacting ArfGAP 1							63	71	68					17																	27903281		2203	4300	6503	SO:0001589	frameshift_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903281delG	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1568delC	17.37:g.27903281delG	ENSP00000225394:p.Pro523fs					GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs	p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1816	-			523					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Frame_Shift_Del	DEL	ENST00000225394.3	37	c.1568delC	CCDS11250.1																																																																																				0.652	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		7	862						7	862	---	---	---	---	-	27903281	G	-	27903281	7	5	102	1	0	1	0	1	0	0	0	0	6425	1000	35	0	745	0	GIT1	17	27903281	Frame_Shift_Del	DEL	G	TCGA-LB-A7SX-01A-11D-A33T-08	19885449	27903281	53291929	270	35125											
NF1	4763	broad.mit.edu	37	chr17	29553568	29553568	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactgaagctgttctggttgCcatgtcctgtttccgccacc	9	14	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:29553568C>T	ENST00000358273.4	+	18	2500	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	NF1_ENST00000356175.3_Missense_Mutation_p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	706					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)		GTTCTGGTTGCCATGTCCTGT	0.527			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2116-2118)gCc>gTc		neurofibromin 1							98	94	95					17																	29553568		2203	4297	6500	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29553568C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2117C>T	17.37:g.29553568C>T	ENSP00000351015:p.Ala706Val	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Missense_Mutation_p.A706V	p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	18	2500	+		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)	706					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.2117C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	34	5.355934	0.95854	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.73363	-0.74;-0.74;2.78	5.69	5.69	0.88448	Armadillo-type fold (1);	0.053537	0.85682	D	0.000000	T	0.78162	0.4240	N	0.16790	0.44	0.80722	D	1	D;D;D	0.67145	0.969;0.996;0.973	P;D;P	0.73380	0.787;0.98;0.576	T	0.79303	-0.1859	10	0.45353	T	0.12	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	706;706;706	E1P657;P21359-2;P21359	.;.;NF1_HUMAN	V	706;706;372	ENSP00000351015:A706V;ENSP00000348498:A706V;ENSP00000389907:A372V	ENSP00000348498:A706V	A	+	2	0	NF1	26577694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.625000	0.67770	2.679000	0.91253	0.650000	0.86243	GCC		0.527	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		7	580	0	0	0	1	0	7	580					T	29553568	C	T	29553568	3	4	102	1	0	0	0	0	1	0	0	0	10398	739	26	2	2248	2	NF1	17	29553568	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1650287	29553568	51641642	271	35126											
GAS2L2	246176	broad.mit.edu	37	chr17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-													gctctttctcctcctttcctTcctcctcctcctcacctact							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					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)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	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.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		9	402						9	402	---	---	---	---	-	34071996	TCC	-	34071994	7	5	102	1	0	1	0	1	0	0	0	0	6275	1783	62	0	124	0	GAS2L2	17	34071994	In_Frame_Del	DEL	TCC	TCGA-LB-A7SX-01A-11D-A33T-08	4518426	34071994	47123216	272	35127											
PIP4K2B	8396	broad.mit.edu	37	chr17	36940505	36940505	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcctccatacctggtaatcCtgatcatcaattccaaacct	4	14	2	1	rs143351168		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:36940505C>T	ENST00000269554.3	-	3	825	c.345G>A	c.(343-345)caG>caA	p.Q115Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	115	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						CCTGGTAATCCTGATCATCAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17308	0.001		0.0	False		,,,				2504	0.0					ENST00000269554.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						c.(343-345)caG>caA		phosphatidylinositol-5-phosphate 4-kinase, type II, beta							92	76	82					17																	36940505		2203	4300	6503	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36940505C>T	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.345G>A	17.37:g.36940505C>T						PIP4K2B_ENST00000311500.6_5'UTR	p.Q115Q	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN			3	825	-			115			PIPK.		Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.345G>A	CCDS11329.1																																																																																				0.502	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1	NM_003559		5	245	0	0	0	1	0	5	245					T	36940505	C	T	36940505	2	4	102	1	0	0	0	0	0	0	0	1	11979	680	24	2		2	PIP4K2B	17	36940505	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2868511	36940505	44254705	273	35128											
MED1	5469	broad.mit.edu	37	chr17	37571341	37571341	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcatccgacagccctttgtaGagtttacagctcacatgtgt	9	11	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:37571341G>A	ENST00000394287.3	-	16	1642	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	MED1_ENST00000300651.6_Silent_p.L479L			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)	p.L479L(1)		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)		GCCCTTTGTAGAGTTTACAGC	0.408										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1435-1437)ctC>ctT		mediator complex subunit 1							210	215	213					17																	37571341		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37571341G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1437C>T	17.37:g.37571341G>A		HNSCC(31;0.082)				MED1_ENST00000394287.3_Silent_p.L479L	p.L479L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	16	1660	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	479			Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37	c.1437C>T																																																																																					0.408	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		40	1230	0	0	0	1	0	40	1230					A	37571341	G	A	37571341	2	1	102	1	0	0	0	0	0	0	0	1	9466	929	33	2		2	MED1	17	37571341	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	630836	37571341	43623869	274	35129											
AOC2	314	broad.mit.edu	37	chr17	40997985	40997985	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaatcatttctatggtGgtttggccagctcagccctt	8	10	4	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:40997985G>A	ENST00000253799.3	+	1	1369	c.1342G>A	c.(1342-1344)Ggt>Agt	p.G448S	AOC2_ENST00000452774.2_Missense_Mutation_p.G448S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	448					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)		TTTCTATGGTGGTTTGGCCAG	0.517																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(1342-1344)Ggt>Agt		amine oxidase, copper containing 2 (retina-specific)							123	114	117					17																	40997985		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997985G>A	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.1342G>A	17.37:g.40997985G>A	ENSP00000253799:p.Gly448Ser					AOC2_ENST00000452774.2_Missense_Mutation_p.G448S	p.G448S	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1369	+		Breast(137;0.000143)	448					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.1342G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767027	0.49574	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.03580	3.88;3.88	5.46	4.5	0.54988	Copper amine oxidase, C-terminal (3);	0.056784	0.64402	D	0.000001	T	0.15262	0.0368	M	0.82630	2.6	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.81914	0.995;0.987	T	0.34179	-0.9839	10	0.05351	T	0.99	-21.9121	14.1903	0.65635	0.0723:0.0:0.9277:0.0	.	448;448	O75106;O75106-2	AOC2_HUMAN;.	S	448	ENSP00000253799:G448S;ENSP00000406134:G448S	ENSP00000253799:G448S	G	+	1	0	AOC2	38251511	1.000000	0.71417	0.968000	0.41197	0.044000	0.14063	9.556000	0.98127	1.308000	0.44962	-0.229000	0.12294	GGT		0.517	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		147	327	0	0	0	1	0	147	327					A	40997985	G	A	40997985	3	1	102	1	0	0	0	0	1	0	0	0	727	1348	47	2	1344	2	AOC2	17	40997985	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3426644	40997985	40197225	275	35130											
USP32	84669	broad.mit.edu	37	chr17	58292025	58292025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catatcttcctctttaatgcGcagcctttgagatagatatt	6	9	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:58292025G>A	ENST00000300896.4	-	17	2172	c.1978C>T	c.(1978-1980)Cgc>Tgc	p.R660C	USP32_ENST00000592339.1_Missense_Mutation_p.R330C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	660					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCTTTAATGCGCAGCCTTTGA	0.408																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1978-1980)Cgc>Tgc		ubiquitin specific peptidase 32							40	37	38					17																	58292025		2201	4295	6496	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58292025G>A	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.1978C>T	17.37:g.58292025G>A	ENSP00000300896:p.Arg660Cys					USP32_ENST00000592339.1_Missense_Mutation_p.R330C	p.R660C	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		17	2172	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		660					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1978C>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241717	0.95272	.	.	ENSG00000170832	ENST00000300896	T	0.51574	0.7	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.68800	-0.5313	10	0.72032	D	0.01	.	19.155	0.93506	0.0:0.0:1.0:0.0	.	660	Q8NFA0	UBP32_HUMAN	C	660	ENSP00000300896:R660C	ENSP00000300896:R660C	R	-	1	0	USP32	55646807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.450000	0.66626	2.539000	0.85634	0.650000	0.86243	CGC		0.408	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		5	445	0	0	0	1	0	5	445					A	58292025	G	A	58292025	3	1	102	1	0	0	0	0	1	0	0	0	17117	1087	38	1	2908	1	USP32	17	58292025	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	17294040	58292025	22903185	276	35131											
FTSJ3	11325	broad.mit.edu	37	chr17	61899126	61899126	+	IGR	DEL	T	T	-													gttcttcctgcagtactgccTtttcctccagtggtaccagc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:61899126delT	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.K518fs	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						CAGTACTGCCTTTTCCTCCAG	0.527																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1552-1554)agfs		FtsJ homolog 3 (E. coli)							277	214	235					17																	61899126		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899126delT	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.61899126delT							p.K518fs	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2198	-			518					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Frame_Shift_Del	DEL	ENST00000578681.1	37	c.1553delA	CCDS32704.1																																																																																				0.527	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		7	1320						7	1320	---	---	---	---	-	61899126	T	-	61899126	6	5	102	0	1	1	0	1	0	0	0	0	6116	1609	56	0		0	FTSJ3	17	61899126	IGR	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	3607101	61899126	19296084	277	35132											
ABCA9	10350	broad.mit.edu	37	chr17	66982398	66982398	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggttgggccacagcGcattctcctgagggcagtac	13	12	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:66982398G>A	ENST00000340001.4	-	32	4326	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	ABCA9_ENST00000453985.2_Missense_Mutation_p.A1334V|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1372V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1372	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGCCACAGCGCATTCTCCTG	0.547																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4114-4116)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 9							128	105	113					17																	66982398		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982398G>A	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.4115C>T	17.37:g.66982398G>A	ENSP00000342216:p.Ala1372Val					ABCA9_ENST00000453985.2_Missense_Mutation_p.A1334V|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1372V	p.A1372V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4326	-	Breast(10;1.47e-12)		1372			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4115C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	6.831	0.522583	0.13066	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.93763	-3.28;-3.28	4.87	1.18	0.20946	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.054980	0.07551	N	0.915471	D	0.86322	0.5905	L	0.31120	0.905	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.14023	0.006;0.01	T	0.70436	-0.4872	10	0.20519	T	0.43	.	3.7669	0.08626	0.3409:0.0:0.4915:0.1676	.	1372;1372	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	V	1372;1317;1372	ENSP00000342216:A1372V;ENSP00000359767:A1372V	ENSP00000342216:A1372V	A	-	2	0	ABCA9	64493993	0.007000	0.16637	0.037000	0.18230	0.203000	0.24098	1.114000	0.31196	-0.000000	0.14550	0.655000	0.94253	GCG		0.547	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		5	502	0	0	0	1	0	5	502					A	66982398	G	A	66982398	3	1	102	1	0	0	0	0	1	0	0	0	39	1087	38	1	791	1	ABCA9	17	66982398	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5083272	66982398	14212812	278	35133											
DUS1L	64118	broad.mit.edu	37	chr17	80022901	80022901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggcccctcgcagggtgCggctccagaactcgaagccc	15	16	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr17:80022901C>T	ENST00000354321.7	-	1	520	c.35G>A	c.(34-36)cGc>cAc	p.R12H	DUS1L_ENST00000306796.5_Missense_Mutation_p.R12H			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	12							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)			TCGCAGGGTGCGGCTCCAGAA	0.692																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(34-36)cGc>cAc		dihydrouridine synthase 1-like (S. cerevisiae)							18	21	20					17																	80022901		2196	4293	6489	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80022901C>T		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.35G>A	17.37:g.80022901C>T	ENSP00000346280:p.Arg12His					DUS1L_ENST00000306796.5_Missense_Mutation_p.R12H	p.R12H			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		1	520	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		12					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.35G>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686403	0.29962	.	.	ENSG00000169718	ENST00000354321;ENST00000306796	T;T	0.32753	1.44;1.44	4.72	-0.164	0.13359	.	0.728101	0.13462	N	0.386025	T	0.21103	0.0508	L	0.48642	1.525	0.19575	N	0.999961	B	0.09022	0.002	B	0.08055	0.003	T	0.19712	-1.0297	10	0.44086	T	0.13	-8.902	3.0021	0.06017	0.2046:0.2852:0.0:0.5102	.	12	Q6P1R4	DUS1L_HUMAN	H	12	ENSP00000346280:R12H;ENSP00000303515:R12H	ENSP00000303515:R12H	R	-	2	0	DUS1L	77616190	0.088000	0.21588	0.759000	0.31340	0.291000	0.27294	0.060000	0.14342	0.416000	0.25844	-0.812000	0.03155	CGC		0.692	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		4	203	0	0	0	1	0	4	203					T	80022901	C	T	80022901	3	4	102	1	0	0	0	0	1	0	0	0	4821	768	27	1	1438	1	DUS1L	17	80022901	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	13040503	80022901	1172309	279	35134											
CLUL1	27098	broad.mit.edu	37	chr18	641458	641458	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	aggacaccgcctatctggtgGagaagatgagagggcaattt	14	7	1	3	rs547348693		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:641458G>T	ENST00000400606.2	+	7	1271	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*|CLUL1_ENST00000540035.1_Nonsense_Mutation_p.E428*|CLUL1_ENST00000581619.1_Nonsense_Mutation_p.E401*	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	376					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTATCTGGTGGAGAAGATGAG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		18478	0.001		0.0	False		,,,				2504	0.0					ENST00000581619.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						c.(1201-1203)Gag>Tag		clusterin-like 1 (retinal)							117	113	115					18																	641458		1945	4140	6085	SO:0001587	stop_gained	27098				cell death	extracellular region		g.chr18:641458G>T	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1126G>T	18.37:g.641458G>T	ENSP00000383449:p.Glu376*					CLUL1_ENST00000400606.2_Nonsense_Mutation_p.E376*|CLUL1_ENST00000540035.1_Nonsense_Mutation_p.E428*|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Nonsense_Mutation_p.E376*|CLUL1_ENST00000338387.7_Nonsense_Mutation_p.E376*	p.E401*			Q15846	CLUL1_HUMAN			7	2048	+			376					A0FDN7	Nonsense_Mutation	SNP	ENST00000400606.2	37	c.1201G>T	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116170	0.77323	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	.	.	.	5.59	2.63	0.31362	.	0.469100	0.24352	N	0.039263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-1.5628	3.4341	0.07440	0.1012:0.307:0.4344:0.1574	.	.	.	.	X	376;428;376	.	ENSP00000341128:E376X	E	+	1	0	CLUL1	631458	0.995000	0.38212	0.832000	0.32986	0.062000	0.15995	0.684000	0.25364	0.676000	0.31285	0.563000	0.77884	GAG		0.493	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			9	503	1	0	0.000673444	1	0.00068269	9	503					T	641458	G	T	641458	4	4	102	1	0	0	0	0	0	1	0	0	3579	1175	41	3	1148	3	CLUL1	18	641458	Nonsense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		641458	77435790	280	35135											
FAM38B	63895	broad.mit.edu	37	chr18	10691258	10691258	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aggttgacgtaattgtagctCttggtgaggaagttccccag	13	7	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:10691258C>G	ENST00000503781.3	-	44	6974	c.6975G>C	c.(6973-6975)aaG>aaC	p.K2325N	PIEZO2_ENST00000580640.1_Missense_Mutation_p.K2350N|PIEZO2_ENST00000302079.6_Missense_Mutation_p.K2325N|PIEZO2_ENST00000538948.1_Missense_Mutation_p.K282N|PIEZO2_ENST00000285141.4_Missense_Mutation_p.K180N	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2325					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)										AATTGTAGCTCTTGGTGAGGA	0.488																																						ENST00000302079.6																			0											c.(6973-6975)aaG>aaC		piezo-type mechanosensitive ion channel component 2							130	114	119					18																	10691258		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10691258C>G	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.6975G>C	18.37:g.10691258C>G	ENSP00000421377:p.Lys2325Asn					PIEZO2_ENST00000580640.1_Missense_Mutation_p.K2350N|PIEZO2_ENST00000285141.4_Missense_Mutation_p.K180N|PIEZO2_ENST00000503781.3_Missense_Mutation_p.K2325N|PIEZO2_ENST00000538948.1_Missense_Mutation_p.K282N	p.K2325N			Q9H5I5	PIEZ2_HUMAN			44	6974	-			2325					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.6975G>C		.	.	.	.	.	.	.	.	.	.	C	18.70	3.679837	0.68042	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.75938	-0.98;-0.94;-0.82	5.62	3.47	0.39725	.	0.142737	0.47455	D	0.000228	T	0.78477	0.4289	L	0.60455	1.87	0.47737	D	0.999505	D	0.76494	0.999	D	0.71656	0.974	T	0.75986	-0.3124	10	0.36615	T	0.2	.	4.6022	0.12359	0.0:0.5856:0.0:0.4143	.	282	D6RFZ0	.	N	282;2325;282;180	ENSP00000303316:K2325N;ENSP00000443129:K282N;ENSP00000285141:K180N	ENSP00000285141:K180N	K	-	3	2	FAM38B	10681258	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.258000	0.51507	1.525000	0.49052	-0.122000	0.15005	AAG		0.488	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		167	407	0	0	0	1	0	167	407					G	10691258	C	G	10691258	3	3	102	1	0	0	0	0	1	0	0	0	5580	912	32	5	1319	5	FAM38B	18	10691258	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10049800	10691258	67385990	281	35136											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	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																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	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						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	305						9	305	---	---	---	---	-	12986929	TCC	-	12986927	6	5	102	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-LB-A7SX-01A-11D-A33T-08	2295669	12986927	65090321	282	35137											
C18orf19	125228	broad.mit.edu	37	chr18	13681751	13681751	+	Frame_Shift_Del	DEL	T	T	-													gcaaaggatcaggctcttccTttttttccggagttccctga							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:13681751delT	ENST00000322247.3	-	3	713	c.326delA	c.(325-327)aagfs	p.K109fs	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	109						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.K109fs*29(1)									AGGCTCTTCCTTTTTTTCCGG	0.433																																						ENST00000322247.3																			1	Deletion - Frameshift(1)	p.K109fs*29(1)	large_intestine(1)								c.(325-327)agfs		family with sequence similarity 210, member A																																				SO:0001589	frameshift_variant	125228					integral to membrane		g.chr18:13681751delT	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 19"	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.326delA	18.37:g.13681751delT	ENSP00000323635:p.Lys109fs					FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs	p.K109fs	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	713	-			109					D3DUJ4	Frame_Shift_Del	DEL	ENST00000322247.3	37	c.326delA	CCDS11866.1																																																																																				0.433	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		7	999						7	999	---	---	---	---	-	13681751	T	-	13681751	7	5	102	1	0	1	0	1	0	0	0	0	1903	1609	56	0	504	0	C18orf19	18	13681751	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	694824	13681751	64395497	283	35138											
CTAGE1	64693	broad.mit.edu	37	chr18	19996570	19996570	+	5'Flank	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	taagatctttggctcgctttCggtaggtctccagctcttca	9	11	4	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:19996570C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R402Q			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)					GGCTCGCTTTCGGTAGGTCTC	0.358																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1204-1206)cGa>cAa		cutaneous T-cell lymphoma-associated antigen 1							82	94	90					18																	19996570		2175	4287	6462	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996570C>T	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.19996570C>T	Exception_encountered						p.R402Q	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	1308	-	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)		402					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1205G>A		.	.	.	.	.	.	.	.	.	.	C	13.15	2.149825	0.37923	.	.	ENSG00000212710	ENST00000391403	T	0.45276	0.9	1.09	0.0992	0.14501	.	.	.	.	.	T	0.59662	0.2210	M	0.83953	2.67	0.09310	N	0.999992	D	0.89917	1.0	D	0.71656	0.974	T	0.47169	-0.9138	8	.	.	.	.	5.0423	0.14465	0.0:0.6186:0.3814:0.0	.	402	Q96RT6	CTGE2_HUMAN	Q	402	ENSP00000375220:R402Q	.	R	-	2	0	CTAGE1	18250568	0.435000	0.25577	0.141000	0.22245	0.004000	0.04260	0.814000	0.27239	0.014000	0.14944	-0.482000	0.04802	CGA		0.358	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		38	684	0	0	0	1	0	38	684					T	19996570	C	T	19996570	1	4	102	0	1	0	0	0	0	0	0	0	4003	884	31	1		1	CTAGE1	18	19996570	5'Flank	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6314819	19996570	58080678	284	35139											
ZNF521	25925	broad.mit.edu	37	chr18	22804704	22804704	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cttatacagtttttggacgtGctggccccgccctgtggtct	11	12	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr18:22804704G>T	ENST00000361524.3	-	4	3326	c.3178C>A	c.(3178-3180)Cac>Aac	p.H1060N	ZNF521_ENST00000584787.1_Missense_Mutation_p.H840N|ZNF521_ENST00000538137.2_Missense_Mutation_p.H1060N|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1060					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)					TTTTGGACGTGCTGGCCCCGC	0.502			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(3178-3180)Cac>Aac		zinc finger protein 521							75	61	65					18																	22804704		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22804704G>T	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.3178C>A	18.37:g.22804704G>T	ENSP00000354794:p.His1060Asn					ZNF521_ENST00000538137.2_Missense_Mutation_p.H1060N|ZNF521_ENST00000584787.1_Missense_Mutation_p.H840N	p.H1060N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	3326	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		1060					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.3178C>A	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	9.539	1.112986	0.20795	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.07800	3.18;3.16	5.98	5.98	0.97165	.	0.156557	0.56097	D	0.000023	T	0.05227	0.0139	N	0.08118	0	0.36885	D	0.889578	B	0.02656	0.0	B	0.04013	0.001	T	0.47573	-0.9107	10	0.20519	T	0.43	-31.416	15.2044	0.73165	0.0:0.0:0.8593:0.1407	.	1060	Q96K83	ZN521_HUMAN	N	1060;1094;1060	ENSP00000354794:H1060N;ENSP00000382352:H1060N	ENSP00000354794:H1060N	H	-	1	0	ZNF521	21058702	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.500000	0.81588	2.835000	0.97688	0.650000	0.86243	CAC		0.502	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		14	295	1	0	7.93312e-07	1	8.26911e-07	14	295					T	22804704	G	T	22804704	3	4	102	1	0	0	0	0	1	0	0	0	18018	1319	46	3	777	3	ZNF521	18	22804704	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2808134	22804704	55272544	285	35140											
PRSSL1	400668	broad.mit.edu	37	chr19	691972	691972	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagtactcaggacgtgggcGcccagcaccaccaggccagt	13	15	1	0	rs182506087	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:691972G>A	ENST00000329267.7	-	3	296	c.267C>T	c.(265-267)ggC>ggT	p.G89G		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						GGACGTGGGCGCCCAGCACCA	0.662													G|||	2	0.000399361	0.0	0.0029	5008	,	,		15373	0.0		0.0	False		,,,				2504	0.0					ENST00000329267.7																			0				central_nervous_system(1)|lung(5)	6						c.(265-267)ggC>ggT		protease, serine, 57		G		1,4405	2.1+/-5.4	0,1,2202	56	35	42		267	-7.7	0.8	19		42	0,8596		0,0,4298	no	coding-synonymous	PRSS57	NM_214710.3		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		89/284	691972	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:691972G>A	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"Serine peptidases / Serine peptidases"	31397	protein-coding gene	gene with protein product			"protease, serine-like 1"	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.267C>T	19.37:g.691972G>A							p.G89G	NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN			3	296	-			89			Peptidase S1.		B2RNW8	Silent	SNP	ENST00000329267.7	37	c.267C>T	CCDS12041.1																																																																																				0.662	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		30	47	0	0	0	1	0	30	47					A	691972	G	A	691972	2	1	102	1	0	0	0	0	0	0	0	1	12683	1074	38	1		1	PRSSL1	19	691972	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		691972	58437011	286	35141											
NCLN	56926	broad.mit.edu	37	chr19	3207244	3207244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaagtgatgaatgcGtacaggtgagtggtggccag	16	6	0	4	rs367933938		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:3207244G>A	ENST00000246117.4	+	13	1979	c.1548G>A	c.(1546-1548)gcG>gcA	p.A516A	NCLN_ENST00000590671.1_Silent_p.A442A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	516					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATGAATGCGTACAGGTGAG	0.597																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(1546-1548)gcG>gcA		nicalin		G		0,4406		0,0,2203	116	111	112		1548	-9	0.3	19		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NCLN	NM_020170.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		516/564	3207244	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3207244G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1548G>A	19.37:g.3207244G>A						NCLN_ENST00000590671.1_Silent_p.A442A	p.A516A	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1979	+		Hepatocellular(1079;0.137)	516					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Silent	SNP	ENST00000246117.4	37	c.1548G>A	CCDS32869.1																																																																																				0.597	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		6	557	0	0	0	1	0	6	557					A	3207244	G	A	3207244	2	1	102	1	0	0	0	0	0	0	0	1	10269	1132	40	1		1	NCLN	19	3207244	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2515272	3207244	55921739	287	35142											
HDGFRP2	84717	broad.mit.edu	37	chr19	4491823	4491824	+	Frame_Shift_Ins	INS	-	-	A													ggggccctctggggggacggINSaaaaaaaaggtagcgtgcac							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:4491823_4491824insA	ENST00000301284.4	+	6	733_734	c.669_670insA	c.(670-672)aaafs	p.K224fs	HDGFRP2_ENST00000586684.1_Frame_Shift_Ins_p.K224fs	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		224	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TGGGGGGACGGAAAAAAAAGGT	0.634																																						ENST00000301284.4																			0											c.(667-672)cgaaaafs																																						SO:0001589	frameshift_variant	0				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491823_4491824insA																												ENST00000301284.4:c.677dupA	19.37:g.4491831_4491831dupA	ENSP00000301284:p.Lys224fs					HDGFRP2_ENST00000586684.1_Frame_Shift_Ins_p.RK223fs	p.RK223fs	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			6	733_734	+			223			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Frame_Shift_Ins	INS	ENST00000301284.4	37	c.669_670insA	CCDS42472.1																																																																																				0.634	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			7	430						7	430	---	---	---	---	A	4491824	-	A	4491823	7	5	102	1	0	1	1	0	0	0	0	0	7050	1161	41	0	691	0	HDGFRP2	19	4491823	Frame_Shift_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	1284579	4491823	54637160	288	35143											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		13	326						13	326	---	---	---	---	-	6531151	GCT	-	6531149	7	5	102	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-LB-A7SX-01A-11D-A33T-08	2039326	6531149	52597834	289	35144											
CD209	30835	broad.mit.edu	37	chr19	7812238	7812238	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtcggaatccaaggcctctCagctgttcctcctctgaatg	9	13	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:7812238C>T	ENST00000315599.7	-	2	82	c.60G>A	c.(58-60)ctG>ctA	p.L20L	CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000394173.4_Silent_p.L20L|CD209_ENST00000394161.5_Silent_p.L20L|CD209_ENST00000354397.6_Silent_p.L20L|CD209_ENST00000593660.1_Silent_p.L20L|CD209_ENST00000315591.8_Silent_p.L20L|CD209_ENST00000601256.1_Silent_p.L20L|CD209_ENST00000204801.8_Intron|CD209_ENST00000601951.1_Silent_p.L20L|CD209_ENST00000602261.1_Silent_p.L20L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	20					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAAGGCCTCTCAGCTGTTCCT	0.572																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(58-60)ctG>ctA		CD209 molecule							304	310	308					19																	7812238		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7812238C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"C-type lectin domain containing", "CD molecules"	1641	protein-coding gene	gene with protein product		604672	"CD209 antigen"			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.60G>A	19.37:g.7812238C>T						CD209_ENST00000593821.1_Intron|CD209_ENST00000394161.5_Silent_p.L20L|CD209_ENST00000204801.8_Intron|CD209_ENST00000354397.6_Silent_p.L20L|CD209_ENST00000315591.8_Silent_p.L20L|CD209_ENST00000394173.4_Silent_p.L20L|CD209_ENST00000593660.1_Silent_p.L20L|CD209_ENST00000601256.1_Silent_p.L20L|CD209_ENST00000601951.1_Silent_p.L20L|CD209_ENST00000602261.1_Silent_p.L20L|CD209_ENST00000301357.8_Intron	p.L20L	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			2	82	-			20					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.60G>A	CCDS12186.1																																																																																				0.572	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		9	1326	0	0	0	1	0	9	1326					T	7812238	C	T	7812238	2	4	102	1	0	0	0	0	0	0	0	1	2993	813	29	2		2	CD209	19	7812238	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	1281089	7812238	51316745	290	35145											
MUC16	94025	broad.mit.edu	37	chr19	9064306	9064306	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagtgaagtcacaggaagggGagagggggggatatgtgcta	19	3	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:9064306G>A	ENST00000397910.4	-	3	23343	c.23140C>T	c.(23140-23142)Ccc>Tcc	p.P7714S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7716	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						ACAGGAAGGGGAGAGGGGGGG	0.532																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23140-23142)Ccc>Tcc		mucin 16, cell surface associated							96	96	96					19																	9064306		2025	4178	6203	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064306G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23140C>T	19.37:g.9064306G>A	ENSP00000381008:p.Pro7714Ser						p.P7714S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23343	-			7716			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23140C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.343	-0.134144	0.06711	.	.	ENSG00000181143	ENST00000397910	T	0.20598	2.06	2.11	-3.35	0.04928	.	.	.	.	.	T	0.09113	0.0225	N	0.14661	0.345	.	.	.	P	0.35456	0.502	B	0.27887	0.084	T	0.18903	-1.0322	8	0.87932	D	0	.	6.4736	0.22022	0.6167:0.0:0.3833:0.0	.	7714	B5ME49	.	S	7714	ENSP00000381008:P7714S	ENSP00000381008:P7714S	P	-	1	0	MUC16	8925306	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.693000	0.01917	-0.722000	0.04922	-1.051000	0.02340	CCC		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	276	0	0	0	1	0	48	276					A	9064306	G	A	9064306	3	1	102	1	0	0	0	0	1	0	0	0	10014	1174	41	2	20711	2	MUC16	19	9064306	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1252068	9064306	50064677	291	35146											
CD97	976	broad.mit.edu	37	chr19	14515219	14515219	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgatgcctgggccacggcagGagctgctctgtgccttctgg	15	12	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:14515219G>A	ENST00000242786.5	+	13	1554	c.1474G>A	c.(1474-1476)Gag>Aag	p.E492K	CD97_ENST00000358600.3_Missense_Mutation_p.E399K|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.E443K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	492	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						GCCACGGCAGGAGCTGCTCTG	0.642																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1474-1476)Gag>Aag		CD97 molecule							87	92	91					19																	14515219		2203	4298	6501	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14515219G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1474G>A	19.37:g.14515219G>A	ENSP00000242786:p.Glu492Lys					CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E399K|CD97_ENST00000357355.3_Missense_Mutation_p.E443K	p.E492K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			13	1554	+			492			GPS.		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1474G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118085	0.56505	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.70399	-0.48;-0.38;-0.0	5.22	4.19	0.49359	GPS domain (2);	.	.	.	.	T	0.68668	0.3026	L	0.35487	1.065	0.19775	N	0.999955	D;D;B	0.69078	0.987;0.997;0.176	P;P;B	0.61592	0.814;0.891;0.122	T	0.57004	-0.7885	9	0.02654	T	1	.	11.2011	0.48741	0.0884:0.0:0.9116:0.0	.	399;443;492	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	K	492;443;399;442	ENSP00000242786:E492K;ENSP00000349918:E443K;ENSP00000351413:E399K	ENSP00000242786:E492K	E	+	1	0	CD97	14376219	0.983000	0.35010	0.187000	0.23214	0.280000	0.26924	1.237000	0.32695	1.435000	0.47434	0.655000	0.94253	GAG		0.642	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		207	414	0	0	0	1	0	207	414					A	14515219	G	A	14515219	3	1	102	1	0	0	0	0	1	0	0	0	3058	1175	41	2	1524	2	CD97	19	14515219	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5450913	14515219	44613764	292	35147											
ZNF676	163223	broad.mit.edu	37	chr19	22362882	22362882	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcttgtgtctagtaaggcttGaggatctgctgaaggctttg	13	6	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:22362882G>A	ENST00000397121.2	-	3	1954	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)				AGTAAGGCTTGAGGATCTGCT	0.408																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(1636-1638)tCa>tTa		zinc finger protein 676							63	66	65					19																	22362882		2127	4254	6381	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22362882G>A	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.1637C>T	19.37:g.22362882G>A	ENSP00000380310:p.Ser546Leu						p.S546L	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1954	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	546					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1637C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	12.14	1.847787	0.32606	.	.	ENSG00000196109	ENST00000397121	T	0.01705	4.68	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	M	0.74647	2.275	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28267	-1.0049	9	0.66056	D	0.02	.	8.4124	0.32651	0.0:0.0:1.0:0.0	.	546	Q8N7Q3	ZN676_HUMAN	L	546	ENSP00000380310:S546L	ENSP00000380310:S546L	S	-	2	0	ZNF676	22154722	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.500000	0.06405	0.191000	0.20236	0.194000	0.17425	TCA		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		6	478	0	0	0	1	0	6	478					A	22362882	G	A	22362882	3	1	102	1	0	0	0	0	1	0	0	0	18136	1294	45	2	133	2	ZNF676	19	22362882	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	7847663	22362882	36766101	293	35148											
SLC7A10	56301	broad.mit.edu	37	chr19	33699875	33699875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctcctcttcgggggcGtcctgggggtagaccacgaa	13	13	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:33699875G>A	ENST00000253188.4	-	11	1640	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	CTD-2540B15.13_ENST00000609744.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	498					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CTTCGGGGGCGTCCTGGGGGT	0.602																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(1492-1494)gaC>gaT		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10							35	39	37					19																	33699875		2202	4300	6502	SO:0001819	synonymous_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33699875G>A	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1494C>T	19.37:g.33699875G>A							p.D498D	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN			11	1640	-	Esophageal squamous(110;0.137)		498					B2RE84	Silent	SNP	ENST00000253188.4	37	c.1494C>T	CCDS12431.1																																																																																				0.602	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		66	159	0	0	0	1	0	66	159					A	33699875	G	A	33699875	2	1	102	1	0	0	0	0	0	0	0	1	14743	1136	40	1		1	SLC7A10	19	33699875	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	11336993	33699875	25429108	294	35149											
FFAR2	2867	broad.mit.edu	37	chr19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggctcctccctgttgggaCgcagaggcaaagacacagca	13	12	0	2	rs574975926		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:35941517C>T	ENST00000599180.2	+	2	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C			O15552	FFAR2_HUMAN	free fatty acid receptor 2	301					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19039	0.0		0.0	False		,,,				2504	0.001				GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(901-903)Cgc>Tgc		free fatty acid receptor 2							76	76	76					19																	35941517		2203	4300	6503	SO:0001583	missense	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941517C>T	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.901C>T	19.37:g.35941517C>T	ENSP00000473159:p.Arg301Cys					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.R301C	p.R301C			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	981	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		301					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	ENST00000599180.2	37	c.901C>T	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037193	0.35893	.	.	ENSG00000126262	ENST00000246549	T	0.69040	-0.37	4.85	-0.293	0.12835	.	0.444083	0.19863	N	0.104381	T	0.52041	0.1710	L	0.51422	1.61	0.09310	N	0.999996	B	0.10296	0.003	B	0.04013	0.001	T	0.41805	-0.9488	10	0.48119	T	0.1	-3.8436	3.8897	0.09113	0.1696:0.4716:0.0:0.3588	.	301	O15552	FFAR2_HUMAN	C	301	ENSP00000246549:R301C	ENSP00000246549:R301C	R	+	1	0	FFAR2	40633357	0.000000	0.05858	0.002000	0.10522	0.282000	0.26991	0.054000	0.14205	-0.091000	0.12440	0.563000	0.77884	CGC		0.567	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		219	469	0	0	0	1	0	219	469					T	35941517	C	T	35941517	3	4	102	1	0	0	0	0	1	0	0	0	5853	536	19	1	903	1	FFAR2	19	35941517	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	2241642	35941517	23187466	295	35150											
ATP4A	495	broad.mit.edu	37	chr19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-													ttgccacccccgccacccgcCttcttcttcttgctcatctt							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1649						7	1649	---	---	---	---	-	36054351	CTT	-	36054349	7	5	102	1	0	1	0	1	0	0	0	0	1146	680	24	0	3098	0	ATP4A	19	36054349	In_Frame_Del	DEL	CTT	TCGA-LB-A7SX-01A-11D-A33T-08	112832	36054349	23074634	296	35151											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			12	1519						12	1519	---	---	---	---	-	36255949	CTC	-	36255947	7	5	102	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	201598	36255947	22873036	297	35152											
LRFN3	79414	broad.mit.edu	37	chr19	36430810	36430810	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgagacactggaggacctCgacctctcctacaacaacct	8	16	1	1	rs539548293		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:36430810C>T	ENST00000588831.1	+	3	1537	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LRFN3_ENST00000246529.3_Silent_p.L161L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	161					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAGGACCTCGACCTCTCCT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		14167	0.0		0.0	False		,,,				2504	0.001					ENST00000588831.1																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(481-483)ctC>ctT		leucine rich repeat and fibronectin type III domain containing 3							53	50	51					19																	36430810		2202	4297	6499	SO:0001819	synonymous_variant	79414				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane		g.chr19:36430810C>T	BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.483C>T	19.37:g.36430810C>T						LRFN3_ENST00000246529.3_Silent_p.L161L	p.L161L			Q9BTN0	LRFN3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		3	1537	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		161					Q6UY10	Silent	SNP	ENST00000588831.1	37	c.483C>T	CCDS12483.1																																																																																				0.657	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457403.2	NM_024509		8	617	0	0	0	1	0	8	617					T	36430810	C	T	36430810	2	4	102	1	0	0	0	0	0	0	0	1	8977	871	31	1		1	LRFN3	19	36430810	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	174863	36430810	22698173	298	35153											
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000402029.3_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000407800.2_5'Flank|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97	84	88					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		6	825	0	0	0	1	0	6	825					A	39421234	G	A	39421234	3	1	102	1	0	0	0	0	1	0	0	0	13895	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2990424	39421234	19707749	299	35154											
FCGBP	8857	broad.mit.edu	37	chr19	40433869	40433869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctagggcctggatgggccGcagcagtgtcagctccgctg	16	13	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40433869G>A	ENST00000221347.6	-	2	407	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	134	IgGFc-binding.					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)			TGGATGGGCCGCAGCAGTGTC	0.597																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(400-402)Cgg>Tgg		Fc fragment of IgG binding protein							64	54	57					19																	40433869		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433869G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.400C>T	19.37:g.40433869G>A	ENSP00000221347:p.Arg134Trp						p.R134W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	407	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		134			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.400C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	6.404	0.442631	0.12164	.	.	ENSG00000090920	ENST00000221347	T	0.18338	2.22	4.13	-8.27	0.01017	.	0.899723	0.09194	N	0.835531	T	0.04137	0.0115	N	0.00926	-1.1	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45991	-0.9223	10	0.37606	T	0.19	.	8.3971	0.32564	0.6469:0.0:0.1439:0.2092	.	134	Q9Y6R7	FCGBP_HUMAN	W	134	ENSP00000221347:R134W	ENSP00000221347:R134W	R	-	1	2	FCGBP	45125709	0.000000	0.05858	0.000000	0.03702	0.294000	0.27393	-0.060000	0.11712	-1.660000	0.01486	0.655000	0.94253	CGG		0.597	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		5	339	0	0	0	1	0	5	339					A	40433869	G	A	40433869	3	1	102	1	0	0	0	0	1	0	0	0	5803	1086	38	1	15957	1	FCGBP	19	40433869	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1012635	40433869	18695114	300	35155											
PRX	57716	broad.mit.edu	37	chr19	40900573	40900573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cctcgcccgcctgtgcctctCggcttagccccacgtccagc	9	21	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40900573C>T	ENST00000324001.7	-	7	3956	c.3686G>A	c.(3685-3687)cGa>cAa	p.R1229Q	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1229	Glu-rich (acidic).				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)			CTGTGCCTCTCGGCTTAGCCC	0.677																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(3685-3687)cGa>cAa		periaxin							40	39	39					19																	40900573		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900573C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3686G>A	19.37:g.40900573C>T	ENSP00000326018:p.Arg1229Gln					PRX_ENST00000291825.7_3'UTR	p.R1229Q	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	3956	-			1229			Glu-rich (acidic).		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.3686G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616264	0.28801	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01043	5.41	4.99	1.46	0.22682	.	0.789709	0.10820	N	0.630577	T	0.01124	0.0037	L	0.36672	1.1	0.09310	N	0.999995	P	0.51791	0.948	B	0.39503	0.301	T	0.54450	-0.8292	10	0.34782	T	0.22	-0.1423	6.6701	0.23064	0.0:0.5058:0.0:0.4942	.	1229	Q9BXM0	PRAX_HUMAN	Q	1229;1164	ENSP00000326018:R1229Q	ENSP00000326018:R1229Q	R	-	2	0	PRX	45592413	0.011000	0.17503	0.566000	0.28421	0.631000	0.37964	0.073000	0.14640	0.529000	0.28599	0.561000	0.74099	CGA		0.677	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		14	480	0	0	0	1	0	14	480					T	40900573	C	T	40900573	3	4	102	1	0	0	0	0	1	0	0	0	12689	884	31	1	703	1	PRX	19	40900573	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	466704	40900573	18228410	301	35156											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-													tcgactgccagaggttccttCtcctcctcctcctcccgttt							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					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)			GAGGTTCCTTCTCCTCCTCCTCC	0.557																																						ENST00000357949.4																			0				endometrium(2)|lung(1)|prostate(1)|skin(1)	5						c.(43-45)del		SERTA domain containing 1																																				SO:0001651	inframe_deletion	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929409_40929411delCTC	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.43_45delGAG	19.37:g.40929418_40929420delCTC	ENSP00000350633:p.Glu15del						p.E15del	NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	201_203	-			15					Q9BUE7	In_Frame_Del	DEL	ENST00000357949.4	37	c.43_45delGAG	CCDS12557.1																																																																																				0.557	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1	NM_013376		9	537						9	537	---	---	---	---	-	40929411	CTC	-	40929409	7	5	102	1	0	1	0	1	0	0	0	0	14170	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	28836	40929409	18199574	302	35157											
PSG7	5676	broad.mit.edu	37	chr19	43430840	43430840	+	RNA	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	tccctggggtttaagttattGatggtgatgtagggcttggg	16	4	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:43430840G>C	ENST00000406070.2	-	0	834				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTAAGTTATTGATGGTGATGT	0.463																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							284	277	279					19																	43430840		2201	4298	6499			5676				female pregnancy	extracellular region		g.chr19:43430840G>C			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430840G>C						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	827	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		51	1434	0	0	0	1	0	51	1434					C	43430840	G	C	43430840	1	2	102	0	1	0	0	0	0	0	0	0	12707	1280	45	5		5	PSG7	19	43430840	RNA	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	2501431	43430840	15698143	303	35158											
CADM4	199731	broad.mit.edu	37	chr19	44129317	44129317	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccgttatccgcggataccaGacccggcagcgtgagcgtct	13	14	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:44129317G>A	ENST00000222374.2	-	7	889	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	CADM4_ENST00000593506.1_5'UTR	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	281	Ig-like C2-type 2.				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)				GCGGATACCAGACCCGGCAGC	0.622																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(841-843)Ctg>Ttg		cell adhesion molecule 4							55	46	49					19																	44129317		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44129317G>A	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.841C>T	19.37:g.44129317G>A						CADM4_ENST00000593506.1_5'UTR	p.L281L	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN			7	889	-		Prostate(69;0.0199)	281			Ig-like C2-type 2.		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.841C>T	CCDS12627.1																																																																																				0.622	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		12	290	0	0	0	1	0	12	290					A	44129317	G	A	44129317	2	1	102	1	0	0	0	0	0	0	0	1	2576	933	33	2		2	CADM4	19	44129317	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	698477	44129317	14999666	304	35159											
GIPR	2696	broad.mit.edu	37	chr19	46172779	46172780	+	Start_Codon_Ins	INS	-	-	TGACTACCT													acccttcgccgccctcacgaINStgactacctctccgatcctg					rs561664397	byFrequency	TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:46172779_46172780insTGACTACCT	ENST00000590918.1	+	0	100_101				GIPR_ENST00000263281.3_Start_Codon_Ins|GIPR_ENST00000304207.8_Start_Codon_Ins	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor						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)		CGCCCTCACGATGACTACCTCT	0.663														5	0.000998403	0.0038	0.0	5008	,	,		16242	0.0		0.0	False		,,,				2504	0.0					ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12								gastric inhibitory polypeptide receptor				6,4234		1,4,2115						3.9	0.4			41	1,8233		0,1,4116	no	coding	GIPR	NM_000164.2		1,5,6231	A1A1,A1R,RR		0.0121,0.1415,0.0561				7,12467				SO:0001582	initiator_codon_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46172779_46172780insTGACTACCT		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.2_10dupTGACTACCT	19.37:g.46172780_46172788dupTGACTACCT						GIPR_ENST00000304207.8_Start_Codon_Ins|GIPR_ENST00000263281.3_Start_Codon_Ins		NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	0	100_101	+		Ovarian(192;0.051)|all_neural(266;0.112)						B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Translation_Start_Site	INS	ENST00000590918.1	37		CCDS12671.1																																																																																				0.663	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			10	30						10	30	---	---	---	---	TGACTACCT	46172780	-	TGACTACCT	46172779	7	5	102	1	0	1	1	0	0	0	0	0	6424	333	12	0	3	0	GIPR	19	46172779	Start_Codon_Ins	INS	-	TCGA-LB-A7SX-01A-11D-A33T-08	2043462	46172779	12956204	305	35160											
FLT3LG	2323	broad.mit.edu	37	chr19	49983561	49983561	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ctctttctccccagactcctCaaccctgccacccccatgga	4	21	3	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:49983561C>G	ENST00000594009.1	+	6	567	c.488C>G	c.(487-489)tCa>tGa	p.S163*	FLT3LG_ENST00000204637.2_Nonsense_Mutation_p.S81*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000595510.1_Nonsense_Mutation_p.S81*|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.S145*|CTD-3148I10.9_ENST00000599536.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	163					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)		CCAGACTCCTCAACCCTGCCA	0.667																																						ENST00000595510.1																			0				large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10						c.(241-243)tCa>tGa		fms-related tyrosine kinase 3 ligand							48	45	46					19																	49983561		2163	4189	6352	SO:0001587	stop_gained	0				positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	g.chr19:49983561C>G	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.488C>G	19.37:g.49983561C>G	ENSP00000469613:p.Ser163*					FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_Nonsense_Mutation_p.S81*|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Nonsense_Mutation_p.S145*|FLT3LG_ENST00000600429.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000594009.1_Nonsense_Mutation_p.S163*|FLT3LG_ENST00000597551.1_Nonsense_Mutation_p.S163*	p.S81*			P49771	FLT3L_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)	6	543	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	163					A0AVC2|B9EGH2|Q05C96	Nonsense_Mutation	SNP	ENST00000594009.1	37	c.242C>G	CCDS12767.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446390	0.84101	.	.	ENSG00000090554	ENST00000204637	.	.	.	3.68	3.68	0.42216	.	0.299782	0.30901	N	0.008656	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.2738	11.0942	0.48134	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000204637:S163X	S	+	2	0	FLT3LG	54675373	0.062000	0.20869	0.847000	0.33407	0.441000	0.31987	3.315000	0.51951	2.042000	0.60477	0.561000	0.74099	TCA		0.667	FLT3LG-007	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465305.1			6	189	0	0	0	1	0	6	189					G	49983561	C	G	49983561	4	3	102	1	0	0	0	0	0	1	0	0	5968	838	29	5	510	5	FLT3LG	19	49983561	Nonsense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3810782	49983561	9145422	306	35161											
SHANK1	50944	broad.mit.edu	37	chr19	51219698	51219698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagcacctgctgcttggccGtccagatggtggcatcgggg	16	11	0	2	rs143340442		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:51219698G>A	ENST00000293441.1	-	2	311	c.293C>T	c.(292-294)aCg>aTg	p.T98M	SHANK1_ENST00000391814.1_Missense_Mutation_p.T98M|SHANK1_ENST00000359082.3_Missense_Mutation_p.T98M	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	98					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)		CTGCTTGGCCGTCCAGATGGT	0.627													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17669	0.0		0.0	False		,,,				2504	0.0					ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(292-294)aCg>aTg		SH3 and multiple ankyrin repeat domains 1			MET/THR	0,4406		0,0,2203	54	56	55		293	1.8	1	19	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHANK1	NM_016148.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	98/2162	51219698	1,13005	2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51219698G>A	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.293C>T	19.37:g.51219698G>A	ENSP00000293441:p.Thr98Met					SHANK1_ENST00000359082.3_Missense_Mutation_p.T98M|SHANK1_ENST00000391814.1_Missense_Mutation_p.T98M	p.T98M	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	2	311	-		all_neural(266;0.057)	98					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.293C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	5.379	0.255161	0.10185	0.0	1.16E-4	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.18338	2.22;2.22;2.22	2.81	1.75	0.24633	.	0.706757	0.12058	U	0.503416	T	0.09598	0.0236	L	0.43152	1.355	0.25616	N	0.98645	P	0.49783	0.928	B	0.29176	0.099	T	0.26430	-1.0103	10	0.46703	T	0.11	.	4.9355	0.13939	0.4008:0.0:0.5992:0.0	.	98	Q9Y566	SHAN1_HUMAN	M	98	ENSP00000293441:T98M;ENSP00000351984:T98M;ENSP00000375690:T98M	ENSP00000293441:T98M	T	-	2	0	SHANK1	55911510	0.992000	0.36948	0.951000	0.38953	0.068000	0.16541	2.421000	0.44688	0.521000	0.28445	-0.401000	0.06369	ACG		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	397	0	0	0	1	0	5	397					A	51219698	G	A	51219698	3	1	102	1	0	0	0	0	1	0	0	0	14314	1145	40	1	6280	1	SHANK1	19	51219698	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1236137	51219698	7909285	307	35162											
LILRA1	11024	broad.mit.edu	37	chr19	55106239	55106239	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagacccaggagtaccgtctGtatagagaaaagaaaacagc	11	8	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:55106239G>A	ENST00000251372.3	+	4	362	c.180G>A	c.(178-180)ctG>ctA	p.L60L	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Silent_p.L60L|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	60	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGTACCGTCTGTATAGAGAAA	0.572																																						ENST00000453777.1																			3	Substitution - coding silent(3)	p.L60L(3)	kidney(3)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(178-180)ctG>ctA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							124	119	121					19																	55106239		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106239G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.180G>A	19.37:g.55106239G>A						LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.L60L	p.L60L	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	350	+			60			Ig-like C2-type 1.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.180G>A	CCDS12901.1																																																																																				0.572	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		7	659	0	0	0	1	0	7	659					A	55106239	G	A	55106239	2	1	102	1	0	0	0	0	0	0	0	1	8816	1364	48	2		2	LILRA1	19	55106239	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3886541	55106239	4022744	308	35163											
NLRP5	126206	broad.mit.edu	37	chr19	56538857	56538857	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcacagagaagctcaagtcaGaggtcgtgtctccccgttac	11	12	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:56538857G>A	ENST00000390649.3	+	7	1258	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	420	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCAAGTCAGAGGTCGTGTC	0.547																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1258-1260)Gag>Aag		NLR family, pyrin domain containing 5							48	50	49					19																	56538857		2085	4205	6290	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538857G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1258G>A	19.37:g.56538857G>A	ENSP00000375063:p.Glu420Lys						p.E420K	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1258	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	420			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1258G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913767	0.17907	.	.	ENSG00000171487	ENST00000390649	T	0.78003	-1.14	3.35	-6.7	0.01766	.	2.074330	0.02664	N	0.107849	T	0.55847	0.1946	N	0.04508	-0.205	0.09310	N	1	B	0.24092	0.097	B	0.33568	0.166	T	0.54596	-0.8270	10	0.48119	T	0.1	.	2.0967	0.03669	0.2778:0.3996:0.1358:0.1869	.	420	P59047	NALP5_HUMAN	K	420	ENSP00000375063:E420K	ENSP00000375063:E420K	E	+	1	0	NLRP5	61230669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.837000	0.01689	-3.908000	0.00092	-0.967000	0.02615	GAG		0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		6	145	0	0	0	1	0	6	145					A	56538857	G	A	56538857	3	1	102	1	0	0	0	0	1	0	0	0	10522	943	33	2	1284	2	NLRP5	19	56538857	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1432618	56538857	2590126	309	35164											
ZFP28	140612	broad.mit.edu	37	chr19	57051065	57051065	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggctgtggggacaggaattGaacctaaagccatgtcccag	13	9	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:57051065G>A	ENST00000301318.3	+	2	351	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	AC005498.3_ENST00000593218.1_lincRNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K|ZFP28_ENST00000594386.1_3'UTR	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		GACAGGAATTGAACCTAAAGC	0.468																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(280-282)Gaa>Aaa		ZFP28 zinc finger protein							107	105	106					19																	57051065		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57051065G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.280G>A	19.37:g.57051065G>A	ENSP00000301318:p.Glu94Lys					ZFP28_ENST00000591844.1_Missense_Mutation_p.E94K|ZFP28_ENST00000594386.1_3'UTR	p.E94K	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	2	351	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	94					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.280G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.927546	0.00493	.	.	ENSG00000196867	ENST00000301318	T	0.04862	3.54	3.15	-2.26	0.06867	.	1.302900	0.05857	N	0.622289	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.42378	-0.9455	10	0.06236	T	0.91	.	3.6521	0.08208	0.4893:0.2061:0.3046:0.0	.	94;94	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	K	94	ENSP00000301318:E94K	ENSP00000301318:E94K	E	+	1	0	ZFP28	61742877	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.068000	0.11561	-0.378000	0.07918	0.462000	0.41574	GAA		0.468	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		10	266	0	0	0	1	0	10	266					A	57051065	G	A	57051065	3	1	102	1	0	0	0	0	1	0	0	0	17695	1291	45	2	286	2	ZFP28	19	57051065	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	512208	57051065	2077918	310	35165											
ZNF552	79818	broad.mit.edu	37	chr19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-													agtgaagagatttgcctaaaTtttttttcacattcactgca							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147	143	144			2	0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		8	791						8	791	---	---	---	---	-	58319468	T	-	58319468	7	5	102	1	0	1	0	1	0	0	0	0	18037	1490	52	0	63	0	ZNF552	19	58319468	Frame_Shift_Del	DEL	T	TCGA-LB-A7SX-01A-11D-A33T-08	1268403	58319468	809515	311	35166											
ZNF606	80095	broad.mit.edu	37	chr19	58490523	58490523	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtacattcaaaaggtttctCtcctgtatgagtcctctgat	7	9	3	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr19:58490523C>T	ENST00000341164.4	-	7	2145	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	ZNF606_ENST00000536132.1_Missense_Mutation_p.E419K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAAGGTTTCTCTCCTGTATGA	0.393																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1525-1527)Gag>Aag		zinc finger protein 606							49	48	48					19																	58490523		2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490523C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1525G>A	19.37:g.58490523C>T	ENSP00000343617:p.Glu509Lys					ZNF606_ENST00000536132.1_Missense_Mutation_p.E419K	p.E509K	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2145	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	509					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1525G>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343802	0.61073	.	.	ENSG00000166704	ENST00000341164;ENST00000536132	T;T	0.24350	1.86;1.86	4.41	4.41	0.53225	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000271	T	0.37265	0.0997	L	0.37630	1.12	0.53688	D	0.999973	D	0.60575	0.988	D	0.63793	0.918	T	0.13282	-1.0515	10	0.87932	D	0	.	12.7365	0.57228	0.0:0.833:0.167:0.0	.	509	Q8WXB4	ZN606_HUMAN	K	509;419	ENSP00000343617:E509K;ENSP00000445624:E419K	ENSP00000343617:E509K	E	-	1	0	ZNF606	63182335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.550000	0.60733	2.446000	0.82766	0.561000	0.74099	GAG		0.393	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		8	278	0	0	0	1	0	8	278					T	58490523	C	T	58490523	3	4	102	1	0	0	0	0	1	0	0	0	18085	922	32	2	857	2	ZNF606	19	58490523	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	171055	58490523	638460	312	35167											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				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						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	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.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		10	654						10	654	---	---	---	---	-	24524185	GGA	-	24524183	7	5	102	1	0	1	0	1	0	0	0	0	16271	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-LB-A7SX-01A-11D-A33T-08		24524183	38501337	313	35168											
NFS1	9054	broad.mit.edu	37	chr20	34262340	34262340	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccttccacatatgcaaaggaGaggttgatacagcctggagg	12	9	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:34262340G>A	ENST00000374092.4	-	10	1138	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	NFS1_ENST00000374085.1_Silent_p.L296L|NFS1_ENST00000540053.1_Silent_p.L154L|NFS1_ENST00000541387.1_Silent_p.L305L|NFS1_ENST00000498084.1_5'Flank|NFS1_ENST00000397425.1_Silent_p.L296L|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.S16F	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	356					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	ATGCAAAGGAGAGGTTGATAC	0.522																																						ENST00000374092.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1066-1068)ctC>ctT		NFS1 cysteine desulfurase	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						111	103	106					20																	34262340		2203	4300	6503	SO:0001819	synonymous_variant	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34262340G>A	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"nitrogen fixation 1 (S. cerevisiae, homolog)", "NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.1068C>T	20.37:g.34262340G>A						NFS1_ENST00000541387.1_Silent_p.L305L|NFS1_ENST00000540053.1_Silent_p.L154L|NFS1_ENST00000374085.1_Silent_p.L296L|NFS1_ENST00000397425.1_Silent_p.L296L	p.L356L	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		10	1138	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		356					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Silent	SNP	ENST00000374092.4	37	c.1068C>T	CCDS13262.1																																																																																				0.522	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		8	603	0	0	0	1	0	8	603					A	34262340	G	A	34262340	2	1	102	1	0	0	0	0	0	0	0	1	10427	929	33	2		2	NFS1	20	34262340	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	9738157	34262340	28763180	314	35169											
CDH22	64405	broad.mit.edu	37	chr20	44828152	44828152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gatggcgcctgtgtccgcatCgatatcgaagatctggtcca	12	11	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:44828152C>G	ENST00000372262.3	-	7	1733	c.1333G>C	c.(1333-1335)Gat>Cat	p.D445H	CDH22_ENST00000537909.1_Missense_Mutation_p.D445H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GTGTCCGCATCGATATCGAAG	0.637																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1333-1335)Gat>Cat		cadherin 22, type 2							66	50	55					20																	44828152		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44828152C>G	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.1333G>C	20.37:g.44828152C>G	ENSP00000361336:p.Asp445His					CDH22_ENST00000537909.1_Missense_Mutation_p.D445H	p.D445H	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			7	1733	-		Myeloproliferative disorder(115;0.0122)	445			Cadherin 4.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1333G>C	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183686	0.57800	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.65732	-0.17;-0.17	5.0	4.06	0.47325	Cadherin (4);Cadherin-like (1);	0.054615	0.64402	D	0.000001	T	0.78142	0.4237	M	0.83118	2.625	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	T	0.78494	-0.2182	10	0.42905	T	0.14	.	11.1009	0.48174	0.0:0.9137:0.0:0.0863	.	445	Q9UJ99	CAD22_HUMAN	H	445	ENSP00000361336:D445H;ENSP00000437790:D445H	ENSP00000361336:D445H	D	-	1	0	CDH22	44261559	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.606000	0.61126	1.228000	0.43614	0.555000	0.69702	GAT		0.637	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		13	164	0	0	0	1	0	13	164					G	44828152	C	G	44828152	3	3	102	1	0	0	0	0	1	0	0	0	3116	884	31	5	1173	5	CDH22	20	44828152	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	10565812	44828152	18197368	315	35170											
PREX1	57580	broad.mit.edu	37	chr20	47324868	47324868	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgccgcttggtctcaTtgatgttggagcaaacggtc	11	11	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:47324868T>C	ENST00000371941.3	-	6	735	c.713A>G	c.(712-714)aAt>aGt	p.N238S	PREX1_ENST00000396220.1_Missense_Mutation_p.N238S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	238	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)			CTTGGTCTCATTGATGTTGGA	0.627																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(712-714)aAt>aGt		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							135	138	137					20																	47324868		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324868T>C	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.713A>G	20.37:g.47324868T>C	ENSP00000361009:p.Asn238Ser					PREX1_ENST00000371941.3_Missense_Mutation_p.N238S	p.N238S			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	735	-			238			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.713A>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.898230	0.91962	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.75589	-0.95;-0.95	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000019	D	0.88250	0.6386	H	0.98089	4.145	0.80722	D	1	P	0.39551	0.678	P	0.47075	0.536	D	0.91608	0.5300	10	0.87932	D	0	.	15.8578	0.78994	0.0:0.0:0.0:1.0	.	238	Q8TCU6	PREX1_HUMAN	S	238	ENSP00000361009:N238S;ENSP00000379522:N238S	ENSP00000361009:N238S	N	-	2	0	PREX1	46758275	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	7.698000	0.84413	2.147000	0.66899	0.533000	0.62120	AAT		0.627	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		436	927	0	0	0	1	0	436	927					C	47324868	T	C	47324868	3	2	102	1	0	0	0	0	1	0	0	0	12523	1493	52	4	4406	4	PREX1	20	47324868	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	2496716	47324868	15700652	316	35171											
ZNF217	7764	broad.mit.edu	37	chr20	52192921	52192921	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ttgcctggcccaggagggctCtgcttccccttcgcagatgg	13	14	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:52192921C>T	ENST00000371471.2	-	4	2807	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.Q794Q			O75362	ZN217_HUMAN	zinc finger protein 217	794					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGGAGGGCTCTGCTTCCCCT	0.562																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2380-2382)caG>caA		zinc finger protein 217							46	46	46					20																	52192921		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52192921C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2382G>A	20.37:g.52192921C>T						ZNF217_ENST00000302342.3_Silent_p.Q794Q	p.Q794Q			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		4	2807	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		794					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.2382G>A	CCDS13443.1																																																																																				0.562	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		140	319	0	0	0	1	0	140	319					T	52192921	C	T	52192921	2	4	102	1	0	0	0	0	0	0	0	1	17825	912	32	2		2	ZNF217	20	52192921	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	4868053	52192921	10832599	317	35172											
PRPF6	57473	broad.mit.edu	37	chr20	62626750	62626750	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cccaggtggaatgacgccagGactgatgacacctggcacag	13	12	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr20:62626750G>A	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.G229E			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)					ATGACGCCAGGACTGATGACA	0.522																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(685-687)gGa>gAa		pre-mRNA processing factor 6							121	97	105					20																	62626750		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62626750G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-27442C>T	20.37:g.62626750G>A						ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	p.G229E			O94906	PRP6_HUMAN			6	797	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		229					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.686G>A	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754691	0.89843	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.78816	-1.19;-1.21	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.85575	0.5728	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.979;0.994	D	0.86768	0.1971	10	0.66056	D	0.02	.	18.533	0.90999	0.0:0.0:1.0:0.0	.	229;229	O94906-2;O94906	.;PRP6_HUMAN	E	229	ENSP00000266079:G229E;ENSP00000446216:G229E	ENSP00000266079:G229E	G	+	2	0	PRPF6	62097194	1.000000	0.71417	0.697000	0.30258	0.995000	0.86356	8.532000	0.90613	2.382000	0.81193	0.650000	0.86243	GGA		0.522	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		85	167	0	0	0	1	0	85	167					A	62626750	G	A	62626750	1	1	102	0	1	0	0	0	0	0	0	0	12621	1174	41	2		2	PRPF6	20	62626750	Intron	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	10433829	62626750	398770	318	35173											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666604	19666604	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccatacacgcagtgtgcGgcggacaccagccagtcact	10	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:19666604G>A	ENST00000284885.3	-	21	2502	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGCAGTGTGCGGCGGACACCA	0.582																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2467-2469)gcC>gcT		transmembrane protease, serine 15							60	60	60					21																	19666604		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666604G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2469C>T	21.37:g.19666604G>A							p.A823A	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2502	-			823			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2469C>T	CCDS13571.1																																																																																				0.582	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		49	251	0	0	0	1	0	49	251					A	19666604	G	A	19666604	2	1	102	1	0	0	0	0	0	0	0	1	16298	1103	39	1		1	TMPRSS15	21	19666604	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		19666604	28463291	319	35174											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		8	185						8	185	---	---	---	---	-	27394184	GTG	-	27394182	7	5	102	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-LB-A7SX-01A-11D-A33T-08	7727578	27394182	20735713	320	35175											
B3GALT5	10317	broad.mit.edu	37	chr21	41032648	41032648	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ccagatacagactgcaggcaGacacctcccttcctcgtcct	7	17	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:41032648G>A	ENST00000380620.4	+	5	754	c.162G>A	c.(160-162)caG>caA	p.Q54Q	B3GALT5_ENST00000398714.2_Silent_p.Q54Q|B3GALT5_ENST00000343118.4_Silent_p.Q54Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Q54Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	54					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGCAGGCAGACACCTCCCT	0.502																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(160-162)caG>caA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							88	80	83					21																	41032648		2203	4300	6503	SO:0001819	synonymous_variant	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41032648G>A	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.162G>A	21.37:g.41032648G>A						B3GALT5_ENST00000398714.2_Silent_p.Q54Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.Q54Q|B3GALT5_ENST00000343118.4_Silent_p.Q54Q	p.Q54Q			Q9Y2C3	B3GT5_HUMAN			5	754	+		Prostate(19;2.55e-06)	54					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	c.162G>A	CCDS13667.1																																																																																				0.502	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		84	324	0	0	0	1	0	84	324					A	41032648	G	A	41032648	2	1	102	1	0	0	0	0	0	0	0	1	1251	933	33	2		2	B3GALT5	21	41032648	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13638466	41032648	7097247	321	35176											
MCM3AP	8888	broad.mit.edu	37	chr21	47686068	47686068	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccaggaatgcagaccggttCagctccacacagctacccag	9	15	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr21:47686068C>T	ENST00000397708.1	-	12	3056	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	MCM3AP_ENST00000291688.1_Silent_p.L934L			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	934	SAC3 homology.				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)					CAGACCGGTTCAGCTCCACAC	0.567																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(2800-2802)ctG>ctA		minichromosome maintenance complex component 3 associated protein							151	163	159					21																	47686068		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47686068C>T	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.2802G>A	21.37:g.47686068C>T						MCM3AP_ENST00000291688.1_Silent_p.L934L	p.L934L			O60318	MCM3A_HUMAN			12	3056	-	Breast(49;0.112)		934					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.2802G>A	CCDS13734.1																																																																																				0.567	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		36	1140	0	0	0	1	0	36	1140					T	47686068	C	T	47686068	2	4	102	1	0	0	0	0	0	0	0	1	9429	813	29	2		2	MCM3AP	21	47686068	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	6653420	47686068	443827	322	35177											
CECR5	27440	broad.mit.edu	37	chr22	17630518	17630518	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaaaaaccacgggcacccGcagctgcccctgggagttca	10	15	1	0	rs202011991		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:17630518G>A	ENST00000336737.4	-	2	269	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	CECR5_ENST00000155674.5_Missense_Mutation_p.R52W|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	82						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)				ACGGGCACCCGCAGCTGCCCC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		16780	0.001		0.0	False		,,,				2504	0.0					ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(244-246)Cgg>Tgg		cat eye syndrome chromosome region, candidate 5							78	82	81					22																	17630518		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17630518G>A	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.244C>T	22.37:g.17630518G>A	ENSP00000337358:p.Arg82Trp					CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Missense_Mutation_p.R52W|CECR5_ENST00000399852.3_Intron	p.R82W	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			2	269	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	82					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.244C>T	CCDS33595.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.89	3.248644	0.59103	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.31247	1.5;1.5	4.9	1.4	0.22301	HAD-like domain (2);	0.220230	0.45867	D	0.000323	T	0.53802	0.1819	M	0.88979	2.995	0.09310	N	0.999999	D;D	0.76494	0.999;0.999	P;D	0.64877	0.886;0.93	T	0.45366	-0.9266	10	0.72032	D	0.01	-20.097	8.9996	0.36074	0.0742:0.0:0.508:0.4178	.	52;82	Q9BXW7-2;Q9BXW7	.;CECR5_HUMAN	W	52;82	ENSP00000155674:R52W;ENSP00000337358:R82W	ENSP00000155674:R52W	R	-	1	2	CECR5	16010518	0.693000	0.27728	0.998000	0.56505	0.977000	0.68977	0.787000	0.26858	0.641000	0.30601	0.561000	0.74099	CGG		0.587	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		8	987	0	0	0	1	0	8	987					A	17630518	G	A	17630518	3	1	102	1	0	0	0	0	1	0	0	0	3216	1086	38	1	1055	1	CECR5	22	17630518	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		17630518	33674048	323	35178											
HIRA	7290	broad.mit.edu	37	chr22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-													cgcagcactcttctggtccaGctgctgctgctgctgccttc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_ENST00000340170.4_In_Frame_Del_p.Q412del|HIRA_ENST00000546308.1_In_Frame_Del_p.Q368del|HIRA_ENST00000541063.1_In_Frame_Del_p.Q368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1234-1239)ctg>c		histone cell cycle regulator																																				SO:0001651	inframe_deletion	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19373136_19373138delGCT	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.1235_1237delAGC	22.37:g.19373145_19373147delGCT	ENSP00000263208:p.Gln412del					HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del	p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			12	1491_1493	-	Colorectal(54;0.0993)		412			Poly-Gln.		Q05BU9|Q8IXN2	In_Frame_Del	DEL	ENST00000263208.5	37	c.1235_1237delAGC	CCDS13759.1																																																																																				0.581	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		7	420						7	420	---	---	---	---	-	19373138	GCT	-	19373136	7	5	102	1	0	1	0	1	0	0	0	0	7150	962	34	0	1872	0	HIRA	22	19373136	In_Frame_Del	DEL	GCT	TCGA-LB-A7SX-01A-11D-A33T-08	1742618	19373136	31931430	324	35179											
ARVCF	421	broad.mit.edu	37	chr22	19969135	19969135	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacgcagcaggaaatgCcggtccagggcaccatctgc	11	16	1	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:19969135C>T	ENST00000263207.3	-	5	786	c.495G>A	c.(493-495)cgG>cgA	p.R165R	ARVCF_ENST00000401994.1_Silent_p.R102R|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Silent_p.R102R|ARVCF_ENST00000406259.1_Silent_p.R165R|ARVCF_ENST00000406522.1_Silent_p.R102R	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	165					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCAGGAAATGCCGGTCCAGGG	0.687																																						ENST00000263207.3																			0				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13						c.(493-495)cgG>cgA		armadillo repeat gene deleted in velocardiofacial syndrome							26	31	29					22																	19969135		2165	4249	6414	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19969135C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.495G>A	22.37:g.19969135C>T						ARVCF_ENST00000344269.3_Silent_p.R102R|ARVCF_ENST00000406522.1_Silent_p.R102R|ARVCF_ENST00000406259.1_Silent_p.R165R|ARVCF_ENST00000401994.1_Silent_p.R102R|ARVCF_ENST00000487793.1_5'UTR	p.R165R	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN			5	786	-	Colorectal(54;0.0993)		165					B7WNV2	Silent	SNP	ENST00000263207.3	37	c.495G>A	CCDS13771.1																																																																																				0.687	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		5	476	0	0	0	1	0	5	476					T	19969135	C	T	19969135	2	4	102	1	0	0	0	0	0	0	0	1	1004	726	26	2		2	ARVCF	22	19969135	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	595999	19969135	31335431	325	35180											
IGLL5	100423062	broad.mit.edu	37	chr22	23237723	23237723	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggagtggagaccaccaAaccctccaaacagagcaaca	11	13	0	2	rs569843724		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237723A>C	ENST00000526893.1	+	3	768	c.494A>C	c.(493-495)aAa>aCa	p.K165T	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000532223.2_Missense_Mutation_p.K166T|IGLJ1_ENST00000390320.2_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	165	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GAGACCACCAAACCCTCCAAA	0.602													N|||	1	0.000199681	0.0008	0.0	5008	,	,		13346	0.0		0.0	False		,,,				2504	0.0					ENST00000532223.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						c.(496-498)aAa>aCa		immunoglobulin lambda-like polypeptide 5							89	90	90					22																	23237723		2202	4295	6497	SO:0001583	missense	100423062					extracellular region		g.chr22:23237723A>C	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.494A>C	22.37:g.23237723A>C	ENSP00000431254:p.Lys165Thr					IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Missense_Mutation_p.K165T	p.K166T			B9A064	IGLL5_HUMAN			3	771	+			165			C region (By similarity to lambda light- chain).|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000526893.1	37	c.497A>C	CCDS54506.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.289688	0.00248	.	.	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00603	6.28;6.28	3.54	-2.51	0.06365	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.728791	0.12593	N	0.455429	T	0.00241	0.0007	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.15052	0.012	T	0.40098	-0.9581	9	0.02654	T	1	.	2.1258	0.03738	0.4304:0.2973:0.1611:0.1113	.	165	B9A064	IGLL5_HUMAN	T	166;165	ENSP00000436353:K166T;ENSP00000431254:K165T	ENSP00000431254:K165T	K	+	2	0	IGLL5	21567723	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.399000	0.07250	-1.086000	0.03084	-5.509000	0.00000	AAA		0.602	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		8	382	0	0	0	1	0	8	382					C	23237723	A	C	23237723	3	2	102	1	0	0	0	0	1	0	0	0	7624	14	1	4	504	4	IGLL5	22	23237723	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	3268588	23237723	28066843	326	35181											
IGLL5	100423062	broad.mit.edu	37	chr22	23237736	23237736	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accaccaaaccctccaaacaGagcaacaacaagtacgcggc	6	16	0	1	rs370560112		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:23237736G>A	ENST00000526893.1	+	3	781	c.507G>A	c.(505-507)caG>caA	p.Q169Q	IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000532223.2_Silent_p.Q170Q|IGLJ1_ENST00000390320.2_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	169	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTCCAAACAGAGCAACAACA	0.602																																						ENST00000532223.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						c.(508-510)caG>caA		immunoglobulin lambda-like polypeptide 5							90	90	90					22																	23237736		2202	4295	6497	SO:0001819	synonymous_variant	100423062					extracellular region		g.chr22:23237736G>A	M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.507G>A	22.37:g.23237736G>A						IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000531372.1_3'UTR|IGLL5_ENST00000526893.1_Silent_p.Q169Q	p.Q170Q			B9A064	IGLL5_HUMAN			3	784	+			169			C region (By similarity to lambda light- chain).|Ig-like C1-type.			Silent	SNP	ENST00000526893.1	37	c.510G>A	CCDS54506.1																																																																																				0.602	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000385699.1	NM_001178126		11	409	0	0	0	1	0	11	409					A	23237736	G	A	23237736	2	1	102	1	0	0	0	0	0	0	0	1	7624	933	33	2		2	IGLL5	22	23237736	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	13	23237736	28066830	327	35182											
SEZ6L	23544	broad.mit.edu	37	chr22	26688941	26688941	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccccagaggccagaacccGgggagcctgggcctgacatg	14	15	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:26688941G>A	ENST00000248933.6	+	2	759	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G222R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	222					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)		p.G222K(1)		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						GCCAGAACCCGGGGAGCCTGG	0.642																																						ENST00000529632.2																			1	Substitution - Missense(1)	p.G222K(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(664-666)Ggg>Agg		seizure related 6 homolog (mouse)-like							34	39	38					22																	26688941		2198	4298	6496	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688941G>A	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.664G>A	22.37:g.26688941G>A	ENSP00000248933:p.Gly222Arg					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G222R|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G222R|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G222R	p.G222R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	860	+			222					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.664G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552259	0.27739	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.26373	1.98;2.1;2.18;1.98;1.74	4.21	3.17	0.36434	.	0.807228	0.10049	U	0.722474	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	0.999994	B;B;B;B;B;B	0.28667	0.047;0.047;0.219;0.219;0.01;0.01	B;B;B;B;B;B	0.22880	0.013;0.008;0.042;0.042;0.003;0.003	T	0.19386	-1.0307	10	0.36615	T	0.2	.	12.2	0.54319	0.0:0.3302:0.6698:0.0	.	222;222;222;222;222;222	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	R	222	ENSP00000384772:G222R;ENSP00000437037:G222R;ENSP00000354185:G222R;ENSP00000248933:G222R;ENSP00000342661:G222R	ENSP00000248933:G222R	G	+	1	0	SEZ6L	25018941	0.138000	0.22547	0.016000	0.15963	0.054000	0.15201	0.882000	0.28186	0.870000	0.35726	0.405000	0.27470	GGG		0.642	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			18	428	0	0	0	1	0	18	428					A	26688941	G	A	26688941	3	1	102	1	0	0	0	0	1	0	0	0	14193	1116	39	1	670	1	SEZ6L	22	26688941	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	3451205	26688941	24615625	328	35183											
CRYBB1	1414	broad.mit.edu	37	chr22	26997912	26997912	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cccagagactgggtgcgtcgTccccctggatctctatggtg	13	13	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:26997912T>C	ENST00000215939.2	-	5	636	c.506A>G	c.(505-507)gAc>gGc	p.D169G		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	169	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				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						GGGTGCGTCGTCCCCCTGGAT	0.612																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(505-507)gAc>gGc		crystallin, beta B1							103	76	86					22																	26997912		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:26997912T>C		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.506A>G	22.37:g.26997912T>C	ENSP00000215939:p.Asp169Gly						p.D169G	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			5	636	-			169			Beta/gamma crystallin 'Greek key' 3.			Missense_Mutation	SNP	ENST00000215939.2	37	c.506A>G	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.103691	0.56291	.	.	ENSG00000100122	ENST00000215939	T	0.76448	-1.02	4.8	4.8	0.61643	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.049341	0.85682	D	0.000000	D	0.90535	0.7034	H	0.94698	3.57	0.80722	D	1	D	0.61697	0.99	D	0.71656	0.974	D	0.92982	0.6407	10	0.87932	D	0	.	13.6717	0.62430	0.0:0.0:0.0:1.0	.	169	P53674	CRBB1_HUMAN	G	169	ENSP00000215939:D169G	ENSP00000215939:D169G	D	-	2	0	CRYBB1	25327912	1.000000	0.71417	0.899000	0.35326	0.043000	0.13939	5.534000	0.67167	1.997000	0.58415	0.482000	0.46254	GAC		0.612	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		5	339	0	0	0	1	0	5	339					C	26997912	T	C	26997912	3	2	102	1	0	0	0	0	1	0	0	0	3919	1667	58	4	260	4	CRYBB1	22	26997912	Missense_Mutation	SNP	T	TCGA-LB-A7SX-01A-11D-A33T-08	308971	26997912	24306654	329	35184											
EIF3D	8664	broad.mit.edu	37	chr22	36915498	36915498	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgacagtgtggaagatgCgcttgatgctccgcagtggc	16	8	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:36915498C>T	ENST00000216190.8	-	8	1035	c.665G>A	c.(664-666)cGc>cAc	p.R222H	EIF3D_ENST00000541106.1_Missense_Mutation_p.R173H|EIF3D_ENST00000405442.1_Missense_Mutation_p.R222H	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						GTGGAAGATGCGCTTGATGCT	0.567																																						ENST00000216190.8																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(664-666)cGc>cAc		eukaryotic translation initiation factor 3, subunit D							267	214	232					22																	36915498		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36915498C>T	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.665G>A	22.37:g.36915498C>T	ENSP00000216190:p.Arg222His					EIF3D_ENST00000405442.1_Missense_Mutation_p.R222H|EIF3D_ENST00000541106.1_Missense_Mutation_p.R173H	p.R222H	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN			8	1035	-			222						Missense_Mutation	SNP	ENST00000216190.8	37	c.665G>A	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	36	5.693888	0.96793	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000455547	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.976;0.99	D	0.86823	0.2006	9	0.72032	D	0.01	0.1102	20.5792	0.99380	0.0:1.0:0.0:0.0	.	173;222	B4DVY1;O15371	.;EIF3D_HUMAN	H	222;207;173;222;222	.	ENSP00000216190:R222H	R	-	2	0	EIF3D	35245444	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.419000	0.80179	2.873000	0.98535	0.561000	0.74099	CGC		0.567	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			159	418	0	0	0	1	0	159	418					T	36915498	C	T	36915498	3	4	102	1	0	0	0	0	1	0	0	0	5032	768	27	1	1013	1	EIF3D	22	36915498	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	9917586	36915498	14389068	330	35185											
IFT27	11020	broad.mit.edu	37	chr22	37154369	37154369	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctcgtcatgccagggcccGgaaaacctccaccttctccc	8	18	2	0	rs150387982		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:37154369G>A	ENST00000433985.2	-	7	967	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	IFT27_ENST00000340630.5_Missense_Mutation_p.R182W|IFT27_ENST00000453009.2_Missense_Mutation_p.R142W	NM_001177701.2	NP_001171172.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27	183					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	GTP binding (GO:0005525)			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGGGCCCGGAAAACCTCC	0.473											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340630.5																			0				endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(544-546)Cgg>Tgg		intraflagellar transport 27 homolog (Chlamydomonas)		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	100	108	105		547,424,544	4.4	0.6	22	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IFT27	NM_001177701.1,NM_001177702.1,NM_006860.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	183/187,142/146,182/186	37154369	1,13005	2203	4300	6503	SO:0001583	missense	11020				small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding	g.chr22:37154369G>A	Z80897	CCDS13932.1, CCDS54523.1	22q13.1	2014-07-03	2014-07-03	2010-04-22	ENSG00000100360	ENSG00000100360		"Intraflagellar transport homologs", "RAB, member RAS oncogene"	18626	protein-coding gene	gene with protein product		615870	"RAB, member of RAS oncogene family-like 4", "intraflagellar transport 27 homolog (Chlamydomonas)"	RABL4		12529303, 17276912	Standard	NM_001177701		Approved	RAYL, BBS19	uc003apv.3	Q9BW83	OTTHUMG00000150544	ENST00000433985.2:c.547C>T	22.37:g.37154369G>A	ENSP00000393541:p.Arg183Trp		OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	868	IFT27_ENST00000453009.2_Missense_Mutation_p.R142W|IFT27_ENST00000433985.2_Missense_Mutation_p.R183W	p.R182W	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN			7	989	-			183					O60897	Missense_Mutation	SNP	ENST00000433985.2	37	c.544C>T	CCDS54523.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535108	0.45073	0.0	1.16E-4	ENSG00000100360	ENST00000340630;ENST00000433985;ENST00000453009	T;T;T	0.72505	-0.48;-0.66;-0.57	5.4	4.38	0.52667	.	.	.	.	.	T	0.53578	0.1805	N	0.08118	0	0.28447	N	0.916531	P;P	0.51147	0.903;0.942	B;B	0.42422	0.216;0.387	T	0.53136	-0.8481	9	0.87932	D	0	.	12.7936	0.57547	0.0802:0.0:0.9198:0.0	.	183;182	Q9BW83;Q9BW83-2	IFT27_HUMAN;.	W	182;183;142	ENSP00000343593:R182W;ENSP00000393541:R183W;ENSP00000405394:R142W	ENSP00000343593:R182W	R	-	1	2	IFT27	35484315	1.000000	0.71417	0.590000	0.28732	0.033000	0.12548	3.642000	0.54367	1.262000	0.44165	0.655000	0.94253	CGG		0.473	IFT27-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_006860		5	648	0	0	0	1	0	5	648					A	37154369	G	A	37154369	3	1	102	1	0	0	0	0	1	0	0	0	7589	1115	39	1	17	1	IFT27	22	37154369	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	238871	37154369	14150197	331	35186											
PHF5A	84844	broad.mit.edu	37	chr22	41863571	41863571	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctcatcacatatgcgcaccaGagtgcagggacgcacatagg	11	12	2	1	rs569271036		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:41863571G>C	ENST00000216252.3	-	3	195	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V	ACO2_ENST00000216254.4_5'Flank|PHF5A_ENST00000491254.1_5'UTR|ACO2_ENST00000396512.3_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	42					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATGCGCACCAGAGTGCAGGGA	0.493																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(124-126)Ctg>Gtg		PHD finger protein 5A							113	97	102					22																	41863571		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41863571G>C	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"Zinc fingers, PHD-type"	18000	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 7"					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.124C>G	22.37:g.41863571G>C	ENSP00000216252:p.Leu42Val					PHF5A_ENST00000491254.1_5'UTR	p.L42V	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			3	195	-			42					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.124C>G	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064935	0.55432	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.54	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.72353	2.195	0.80722	D	1	B	0.30664	0.289	B	0.40940	0.344	T	0.65957	-0.6042	9	0.41790	T	0.15	-12.734	11.3569	0.49621	0.1449:0.0:0.8551:0.0	.	42	Q7RTV0	PHF5A_HUMAN	V	42	.	ENSP00000216252:L42V	L	-	1	2	PHF5A	40193517	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.705000	0.54823	1.476000	0.48215	0.655000	0.94253	CTG		0.493	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		7	404	0	0	0	1	0	7	404					C	41863571	G	C	41863571	3	2	102	1	0	0	0	0	1	0	0	0	11879	933	33	5	216	5	PHF5A	22	41863571	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4709202	41863571	9440995	332	35187											
CERK	64781	broad.mit.edu	37	chr22	47087589	47087589	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcagccggggagaggcccctGgggctccggcgacaagcaca	17	14	0	1	rs201852137		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:47087589G>T	ENST00000216264.8	-	11	1324	c.1212C>A	c.(1210-1212)ccC>ccA	p.P404P	CERK_ENST00000541677.1_Silent_p.P206P|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	404					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)		AGAGGCCCCTGGGGCTCCGGC	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17513	0.0		0.0	False		,,,				2504	0.0					ENST00000216264.8																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20						c.(1210-1212)ccC>ccA		ceramide kinase							49	46	47					22																	47087589		2202	4300	6502	SO:0001819	synonymous_variant	64781				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	g.chr22:47087589G>T	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.1212C>A	22.37:g.47087589G>T						CERK_ENST00000471929.1_5'UTR|CERK_ENST00000541677.1_Silent_p.P206P	p.P404P	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)	11	1324	-		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)	404					A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	ENST00000216264.8	37	c.1212C>A	CCDS14077.1																																																																																				0.557	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766		71	313	1	0	2.32478e-39	1	2.53665e-39	71	313					T	47087589	G	T	47087589	2	4	102	1	0	0	0	0	0	0	0	1	3276	1335	47	3		3	CERK	22	47087589	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	5224018	47087589	4216977	333	35188											
ZBED4	9889	broad.mit.edu	37	chr22	50279764	50279764	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcatcgggaagacgctgaaCgagggggagcactcgagcgt	17	9	0	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chr22:50279764C>T	ENST00000216268.5	+	2	2931	c.2454C>T	c.(2452-2454)aaC>aaT	p.N818N		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	818						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)		AGACGCTGAACGAGGGGGAGC	0.622																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2452-2454)aaC>aaT		zinc finger, BED-type containing 4							38	38	38					22																	50279764		2203	4299	6502	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50279764C>T	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.2454C>T	22.37:g.50279764C>T							p.N818N	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	2931	+		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)	818					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.2454C>T	CCDS33677.1																																																																																				0.622	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		8	178	0	0	0	1	0	8	178					T	50279764	C	T	50279764	2	4	102	1	0	0	0	0	0	0	0	1	17573	535	19	1		1	ZBED4	22	50279764	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	3192175	50279764	1024802	334	35189											
CLCN4	1183	broad.mit.edu	37	chrX	10176320	10176320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcgcctggtgcaggaggcGcaagaccaccaggctgggga	16	12	0	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:10176320G>A	ENST00000380833.4	+	9	1470	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	CLCN4_ENST00000421085.2_Missense_Mutation_p.R266H|CLCN4_ENST00000380829.1_Missense_Mutation_p.R329H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	360					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						TGCAGGAGGCGCAAGACCACC	0.597																																					Melanoma(74;1050 1296 1576 30544 38374)	ENST00000380833.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1078-1080)cGc>cAc		chloride channel, voltage-sensitive 4							107	102	104					X																	10176320		2203	4300	6503	SO:0001583	missense	0					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10176320G>A	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"Ion channels / Chloride channels : Voltage-sensitive"	2022	protein-coding gene	gene with protein product		302910	"chloride channel 4"			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1079G>A	X.37:g.10176320G>A	ENSP00000370213:p.Arg360His					CLCN4_ENST00000421085.2_Missense_Mutation_p.R266H|CLCN4_ENST00000380829.1_Missense_Mutation_p.R329H	p.R360H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN			9	1470	+			360					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1079G>A	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	g	33	5.290835	0.95546	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94650	-3.48;-3.46;-3.48	5.71	5.71	0.89125	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99449	1.0940	10	0.87932	D	0	-28.1314	18.9991	0.92826	0.0:0.0:1.0:0.0	.	360	P51793	CLCN4_HUMAN	H	360;329;266	ENSP00000370213:R360H;ENSP00000370209:R329H;ENSP00000405754:R266H	ENSP00000370209:R329H	R	+	2	0	CLCN4	10136320	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.664000	0.98607	2.436000	0.82500	0.592000	0.82586	CGC		0.597	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			7	1066	0	0	0	1	0	7	1066					A	10176320	G	A	10176320	3	1	102	1	0	0	0	0	1	0	0	0	3474	1087	38	1	1105	1	CLCN4	23	10176320	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08		10176320	145094240	335	35190											
ZNF645	158506	broad.mit.edu	37	chrX	22292031	22292031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggatgtagttactcctaactCggttcgtagccaagtgccag	11	10	0	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:22292031C>T	ENST00000323684.1	+	1	967	c.923C>T	c.(922-924)tCg>tTg	p.S308L		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	308	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ACTCCTAACTCGGTTCGTAGC	0.448																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(922-924)tCg>tTg		zinc finger protein 645							136	104	115					X																	22292031		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292031C>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.923C>T	X.37:g.22292031C>T	ENSP00000323348:p.Ser308Leu						p.S308L	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	967	+			308			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.923C>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.552333	0.00918	.	.	ENSG00000175809	ENST00000323684	T	0.30182	1.54	2.42	-1.52	0.08637	.	0.974552	0.08262	N	0.972933	T	0.07773	0.0195	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	10	0.07030	T	0.85	.	6.635	0.22877	0.0:0.4115:0.0:0.5885	.	308	Q8N7E2	ZN645_HUMAN	L	308	ENSP00000323348:S308L	ENSP00000323348:S308L	S	+	2	0	ZNF645	22201952	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	2.686000	0.46968	-0.498000	0.06632	-0.366000	0.07423	TCG		0.448	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		26	631	0	0	0	1	0	26	631					T	22292031	C	T	22292031	3	4	102	1	0	0	0	0	1	0	0	0	18114	893	31	1	925	1	ZNF645	23	22292031	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	12115711	22292031	132978529	336	35191											
ZFX	7543	broad.mit.edu	37	chrX	24229134	24229134	+	Frame_Shift_Del	DEL	A	A	-													acgtggctgcccacaagggcAaaaaaatgcaccagtgtaga							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:24229134delA	ENST00000379177.1	+	11	2486	c.2059delA	c.(2059-2061)aaafs	p.K688fs	ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	688					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						CCACAAGGGCAAAAAAATGCA	0.428																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(2059-2061)aafs		zinc finger protein, X-linked							121	110	114					X																	24229134		2203	4300	6503	SO:0001589	frameshift_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229134delA		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.2059delA	X.37:g.24229134delA	ENSP00000368475:p.Lys688fs					ZFX_ENST00000379188.3_Frame_Shift_Del_p.K688fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.K727fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.K688fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.K459fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.K638fs	p.K688fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2486	+			688					B9EG97|O43668|Q8WYJ8	Frame_Shift_Del	DEL	ENST00000379177.1	37	c.2059delA	CCDS14211.1																																																																																				0.428	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		7	748						7	748	---	---	---	---	-	24229134	A	-	24229134	7	5	102	1	0	1	0	1	0	0	0	0	17714	131	5	0	2144	0	ZFX	23	24229134	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	1937103	24229134	131041426	337	35192											
MAGEB6	158809	broad.mit.edu	37	chrX	26212572	26212572	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggcgtgcacgttggcGcaattcctgcagaagaagtt	13	8	0	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:26212572G>A	ENST00000379034.1	+	2	758	c.609G>A	c.(607-609)gcG>gcA	p.A203A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A203A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.A203A(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(607-609)gcG>gcA		melanoma antigen family B, 6							85	72	76					X																	26212572		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212572G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.609G>A	X.37:g.26212572G>A							p.A203A	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	758	+			203			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.609G>A	CCDS14217.1																																																																																				0.478	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		5	574	0	0	0	1	0	5	574					A	26212572	G	A	26212572	2	1	102	1	0	0	0	0	0	0	0	1	9220	1074	38	1		1	MAGEB6	23	26212572	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1983438	26212572	129057988	338	35193											
MAGEB4	4115	broad.mit.edu	37	chrX	30260943	30260943	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgaatatgctggggatctatGatggaaagaggcaccttatc	12	6	1	3			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:30260943G>A	ENST00000378982.2	+	1	887	c.691G>A	c.(691-693)Gat>Aat	p.D231N	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	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						GGGGATCTATGATGGAAAGAG	0.473																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(691-693)Gat>Aat		melanoma antigen family B, 4							76	72	74					X																	30260943		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260943G>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.691G>A	X.37:g.30260943G>A	ENSP00000368266:p.Asp231Asn						p.D231N	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	887	+			231			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.691G>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209960	0.39003	.	.	ENSG00000120289	ENST00000378982	T	0.05025	3.51	3.31	1.44	0.22558	.	0.365804	0.22917	U	0.054080	T	0.22282	0.0537	M	0.88181	2.935	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05632	-1.0873	10	0.48119	T	0.1	.	3.927	0.09269	0.1458:0.2453:0.609:0.0	.	231	O15481	MAGB4_HUMAN	N	231	ENSP00000368266:D231N	ENSP00000368266:D231N	D	+	1	0	MAGEB4	30170864	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.003000	0.12901	0.252000	0.21531	-0.192000	0.12808	GAT		0.473	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		12	438	0	0	0	1	0	12	438					A	30260943	G	A	30260943	3	1	102	1	0	0	0	0	1	0	0	0	9219	1290	45	2	693	2	MAGEB4	23	30260943	Missense_Mutation	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	4048371	30260943	125009617	339	35194											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		9	902	0	0	0	1	0	9	902					G	37028425	A	G	37028425	3	3	102	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	6767482	37028425	118242135	340	35195											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-													accttaatattatcaccccaCcccccccaccagatgaagtg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117	111	113					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		13	922						13	922	---	---	---	---	-	37312611	C	-	37312611	7	5	102	1	0	1	0	1	0	0	0	0	12652	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-LB-A7SX-01A-11D-A33T-08	284186	37312611	117957949	341	35196											
SLC9A7	84679	broad.mit.edu	37	chrX	46521562	46521562	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gcatcaaaggcgtgagtgttCagtcccgctggctggtaggc	15	10	2	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:46521562C>G	ENST00000328306.4	-	7	955	c.930G>C	c.(928-930)ctG>ctC	p.L310L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	310					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CGTGAGTGTTCAGTCCCGCTG	0.408																																					Pancreas(118;454 1696 1930 13865 39976)	ENST00000328306.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						c.(928-930)ctG>ctC		solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7							58	48	51					X																	46521562		2203	4300	6503	SO:0001819	synonymous_variant	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46521562C>G	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.930G>C	X.37:g.46521562C>G							p.L310L	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN			7	955	-			310					O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	c.930G>C	CCDS14269.1																																																																																				0.408	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		4	239	0	0	0	1	0	4	239					G	46521562	C	G	46521562	2	3	102	1	0	0	0	0	0	0	0	1	14769	813	29	5		5	SLC9A7	23	46521562	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	9208951	46521562	108748998	342	35197											
SSX5	6758	broad.mit.edu	37	chrX	48051695	48051695	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aagattccctggagcctgccGaaagtcatctgaggatgttc	11	10	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:48051695G>A	ENST00000376923.1	-	4	302	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SSX5_ENST00000311798.1_Silent_p.F142F|SSX5_ENST00000347757.1_Silent_p.F101F			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGAGCCTGCCGAAAGTCATCT	0.443																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(424-426)ttC>ttT		synovial sarcoma, X breakpoint 5							155	144	148					X																	48051695		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48051695G>A	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.303C>T	X.37:g.48051695G>A						SSX5_ENST00000347757.1_Silent_p.F101F|SSX5_ENST00000376923.1_Silent_p.F101F	p.F142F	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			6	478	-			101					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.426C>T	CCDS14289.1																																																																																				0.443	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		7	1051	0	0	0	1	0	7	1051					A	48051695	G	A	48051695	2	1	102	1	0	0	0	0	0	0	0	1	15260	1049	37	1		1	SSX5	23	48051695	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1530133	48051695	107218865	343	35198											
SHROOM4	57477	broad.mit.edu	37	chrX	50377159	50377159	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttttacatgaagatagaagAgatgtgttagaggcagtgag	13	2	0	6			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:50377159A>G	ENST00000289292.7	-	4	2197	c.1914T>C	c.(1912-1914)tcT>tcC	p.S638S	SHROOM4_ENST00000376020.2_Silent_p.S638S|SHROOM4_ENST00000460112.3_Silent_p.S522S			Q9ULL8	SHRM4_HUMAN	shroom family member 4	638					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)					AAGATAGAAGAGATGTGTTAG	0.522																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1912-1914)tcT>tcC		shroom family member 4							57	60	59					X																	50377159		2203	4300	6503	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377159A>G	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.1914T>C	X.37:g.50377159A>G						SHROOM4_ENST00000460112.3_Silent_p.S522S|SHROOM4_ENST00000289292.7_Silent_p.S638S	p.S638S	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1939	-	Ovarian(276;0.236)		638					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.1914T>C	CCDS35277.1																																																																																				0.522	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		44	368	0	0	0	1	0	44	368					G	50377159	A	G	50377159	2	3	102	1	0	0	0	0	0	0	0	1	14346	291	11	4		4	SHROOM4	23	50377159	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	2325464	50377159	104893401	344	35199											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					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						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	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.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		14	981						14	981	---	---	---	---	-	54011407	CTC	-	54011405	7	5	102	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-LB-A7SX-01A-11D-A33T-08	3634246	54011405	101259155	345	35200											
TRO	7216	broad.mit.edu	37	chrX	54956406	54956406	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gccagcttcagtggtgctgtCagcaccagtgcttgcttcag	12	12	3	0			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:54956406C>T	ENST00000173898.7	+	12	3361	c.3249C>T	c.(3247-3249)gtC>gtT	p.V1083V	TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000375041.2_Silent_p.V686V	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1083	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						GTGGTGCTGTCAGCACCAGTG	0.592																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(3247-3249)gtC>gtT		trophinin							29	28	28					X																	54956406		2049	4175	6224	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956406C>T	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.3249C>T	X.37:g.54956406C>T						TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Silent_p.V614V|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.V686V	p.V1083V	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	3361	+			1083			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.3249C>T	CCDS43959.1																																																																																				0.592	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		10	261	0	0	0	1	0	10	261					T	54956406	C	T	54956406	2	4	102	1	0	0	0	0	0	0	0	1	16627	813	29	2		2	TRO	23	54956406	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	945001	54956406	100314154	346	35201											
FAM104B	90736	broad.mit.edu	37	chrX	55172572	55172572	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtgagcctccttcaagGtctggttgatatgggagtaa	13	6	2	3	rs111573608		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:55172572G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I|FAM104B_ENST00000425133.2_Missense_Mutation_p.T99I			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B											endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CTCCTTCAAGGTCTGGTTGAT	0.448																																						ENST00000425133.2																			0				endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(295-297)aCc>aTc		family with sequence similarity 104, member B							61	52	55					X																	55172572		2203	4299	6502	SO:0001627	intron_variant	90736							g.chrX:55172572G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+41C>T	X.37:g.55172572G>A						FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I	p.T99I	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	334	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.296C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	3.194	-0.165131	0.06502	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	T;T;T	0.37411	1.2;1.2;1.2	1.6	-3.2	0.05156	.	.	.	.	.	T	0.12774	0.0310	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31223	-0.9951	9	0.02654	T	1	.	6.3236	0.21231	0.5556:0.0:0.4444:0.0	.	99	Q5XKR9-3	.	I	99;95;97	ENSP00000397188:T99I;ENSP00000421161:T95I;ENSP00000423164:T97I	ENSP00000397188:T99I	T	-	2	0	FAM104B	55189297	0.904000	0.30761	0.033000	0.17914	0.642000	0.38348	-0.117000	0.10708	-1.373000	0.02134	-1.846000	0.00573	ACC		0.448	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		5	448	0	0	0	1	0	5	448					A	55172572	G	A	55172572	1	1	102	0	1	0	0	0	0	0	0	0	5407	1261	44	2		2	FAM104B	23	55172572	Intron	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	216166	55172572	100097988	347	35202											
HDAC8	55869	broad.mit.edu	37	chrX	71788701	71788701	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcagtgtggaaggtggccatCtcctccatggaggccacttt	12	11	2	0	rs373199509		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:71788701C>T	ENST00000373573.3	-	3	539	c.198G>A	c.(196-198)gaG>gaA	p.E66E	HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373561.4_Silent_p.E66E|HDAC8_ENST00000373556.3_Silent_p.E66E|HDAC8_ENST00000373571.1_Silent_p.E66E|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373554.1_Silent_p.E66E|HDAC8_ENST00000373560.2_Silent_p.E66E|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000439122.2_Silent_p.E66E	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	66	Histone deacetylase.				chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	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)|transcription factor binding (GO:0008134)			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AGGTGGCCATCTCCTCCATGG	0.483																																						ENST00000439122.2																			0				breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10						c.(196-198)gaG>gaA		histone deacetylase 8	Vorinostat(DB02546)						96	73	81					X																	71788701		2203	4300	6503	SO:0001819	synonymous_variant	55869				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chrX:71788701C>T	AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"histone deacetylase-like 1", "Wilson-Turner X-linked mental retardation syndrome"	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.198G>A	X.37:g.71788701C>T						HDAC8_ENST00000373554.1_Silent_p.E66E|HDAC8_ENST00000478743.1_5'UTR|HDAC8_ENST00000373556.3_Silent_p.E66E|HDAC8_ENST00000373561.4_Silent_p.E66E|HDAC8_ENST00000429103.2_5'UTR|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373571.1_Silent_p.E66E|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373560.2_Silent_p.E66E|HDAC8_ENST00000373573.3_Silent_p.E66E	p.E66E	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN			3	484	-	Renal(35;0.156)		66			Histone deacetylase.		A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Silent	SNP	ENST00000373573.3	37	c.198G>A	CCDS14420.1																																																																																				0.483	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057193.2	NM_018486		5	145	0	0	0	1	0	5	145					T	71788701	C	T	71788701	2	4	102	1	0	0	0	0	0	0	0	1	7043	912	32	2		2	HDAC8	23	71788701	Silent	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	16616129	71788701	83481859	348	35203											
TBC1D8B	54885	broad.mit.edu	37	chrX	106111641	106111641	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agcttacactgaagtgaaatCtaaggatgcttcaaaaggag	10	6	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:106111641C>T	ENST00000357242.5	+	18	2921	c.2747C>T	c.(2746-2748)tCt>tTt	p.S916F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S910F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	916							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAGTGAAATCTAAGGATGCT	0.343																																						ENST00000357242.5																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2746-2748)tCt>tTt		TBC1 domain family, member 8B (with GRAM domain)							84	77	80					X																	106111641		2202	4299	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106111641C>T	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2747C>T	X.37:g.106111641C>T	ENSP00000349781:p.Ser916Phe					TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S910F	p.S916F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN			18	2921	+			916					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2747C>T	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514460	0.27123	.	.	ENSG00000133138	ENST00000357242;ENST00000276175;ENST00000394972	T;T	0.08720	3.06;3.06	5.88	2.91	0.33838	EF-hand-like domain (1);	0.641843	0.14963	N	0.288267	T	0.07818	0.0196	L	0.59436	1.845	0.25619	N	0.986428	B	0.15473	0.013	B	0.17979	0.02	T	0.47058	-0.9146	10	0.09338	T	0.73	1.5005	5.2383	0.15458	0.1503:0.6334:0.1307:0.0856	.	916	Q0IIM8	TBC8B_HUMAN	F	916;910;178	ENSP00000349781:S916F;ENSP00000276175:S910F	ENSP00000276175:S910F	S	+	2	0	TBC1D8B	105998297	0.551000	0.26497	0.029000	0.17559	0.958000	0.62258	1.060000	0.30530	0.140000	0.18849	0.600000	0.82982	TCT		0.343	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		11	258	0	0	0	1	0	11	258					T	106111641	C	T	106111641	3	4	102	1	0	0	0	0	1	0	0	0	15678	913	32	2	2883	2	TBC1D8B	23	106111641	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	34322940	106111641	49158919	349	35204											
TEX13B	56156	broad.mit.edu	37	chrX	107224541	107224541	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctttctccctctgccccGcaaaggtgtaatttgcctgc	8	14	3	0	rs41300888		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:107224541G>A	ENST00000302917.1	-	3	800	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	236								p.C236C(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCTCTGCCCCGCAAAGGTGTA	0.592													G|||	1	0.000264901	0.0	0.0	3775	,	,		13852	0.0		0.001	False		,,,				2504	0.0					ENST00000302917.1																			1	Substitution - coding silent(1)	p.C236C(1)	large_intestine(1)	breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(706-708)tgC>tgT		testis expressed 13B							140	128	132					X																	107224541		2198	4300	6498	SO:0001819	synonymous_variant	0							g.chrX:107224541G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"testis expressed sequence 13B"			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.708C>T	X.37:g.107224541G>A							p.C236C	NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN			3	800	-			236					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.708C>T	CCDS14534.1																																																																																				0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			6	946	0	0	0	1	0	6	946					A	107224541	G	A	107224541	2	1	102	1	0	0	0	0	0	0	0	1	15829	1079	38	1		1	TEX13B	23	107224541	Silent	SNP	G	TCGA-LB-A7SX-01A-11D-A33T-08	1112900	107224541	48046019	350	35205											
COL4A5	1287	broad.mit.edu	37	chrX	107842050	107842050	+	Frame_Shift_Del	DEL	A	A	-													ccctccaggcccagtaggtgAaaaaggcatacaaggtgtgg							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:107842050delA	ENST00000361603.2	+	25	2142	c.1898delA	c.(1897-1899)gaafs	p.E633fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E633fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	633	Triple-helical region.		E -> K (in APSX). {ECO:0000269|PubMed:10561141}.		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						CCAGTAGGTGAAAAAGGCATA	0.507									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1897-1899)gafs		collagen, type IV, alpha 5							74	77	76					X																	107842050		2203	4300	6503	SO:0001589	frameshift_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107842050delA	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.1898delA	X.37:g.107842050delA	ENSP00000354505:p.Glu633fs					COL4A5_ENST00000361603.2_Frame_Shift_Del_p.E633fs	p.E633fs	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			25	2142	+			633		E -> K (in APSX).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	ENST00000361603.2	37	c.1898delA	CCDS14543.1																																																																																				0.507	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			7	494						7	494	---	---	---	---	-	107842050	A	-	107842050	7	5	102	1	0	1	0	1	0	0	0	0	3703	246	9	0	1996	0	COL4A5	23	107842050	Frame_Shift_Del	DEL	A	TCGA-LB-A7SX-01A-11D-A33T-08	617509	107842050	47428510	351	35206											
NXT2	55916	broad.mit.edu	37	chrX	108780167	108780167	+	5'UTR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtattgatcattccgcagcCctgcggaccggacacgtgag	12	12	1	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:108780167C>T	ENST00000372106.1	+	0	63				NXT2_ENST00000372103.1_5'Flank|NXT2_ENST00000218004.1_Splice_Site_p.P33S|NXT2_ENST00000372107.1_5'UTR	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2						mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572																																						ENST00000218004.1																			0				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						c.e2-1		nuclear transport factor 2-like export factor 2							73	54	60					X																	108780167		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55916				mRNA transport|protein transport	cytoplasm|nucleus		g.chrX:108780167C>T	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.-69C>T	X.37:g.108780167C>T						NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372106.1_5'UTR	p.P33_splice	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN			2	199	+			0			NTF2.		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Splice_Site	SNP	ENST00000372106.1	37	c.95_splice	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	C	5.125	0.208764	0.09757	.	.	ENSG00000101888	ENST00000218004	.	.	.	4.69	-1.18	0.09617	.	3.984890	0.00589	N	0.000344	T	0.14141	0.0342	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.12967	-1.0527	8	0.06365	T	0.9	.	2.1255	0.03737	0.1267:0.4115:0.1228:0.339	.	33	Q9NPJ8-3	.	S	33	.	ENSP00000218004:P33S	P	+	1	0	NXT2	108666823	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.403000	0.02497	-0.751000	0.04734	-0.905000	0.02835	CCT		0.572	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		17	133	0	0	0	1	0	17	133					T	108780167	C	T	108780167	1	4	102	0	1	0	0	0	0	0	0	0	10837	637	22	2		2	NXT2	23	108780167	5'UTR	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	938117	108780167	46490393	352	35207											
RGAG1	57529	broad.mit.edu	37	chrX	109697313	109697313	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctcttagaagagcaggaAgcagcccggggctcatgctc	12	12	2	2			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:109697313A>G	ENST00000465301.2	+	3	3714	c.3468A>G	c.(3466-3468)gaA>gaG	p.E1156E	RGAG1_ENST00000540313.1_Silent_p.E1156E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1156										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGAGCAGGAAGCAGCCCGGG	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(3466-3468)gaA>gaG		retrotransposon gag domain containing 1							103	96	98					X																	109697313		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109697313A>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3468A>G	X.37:g.109697313A>G						RGAG1_ENST00000540313.1_Silent_p.E1156E	p.E1156E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	3714	+			1156					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.3468A>G	CCDS14552.1																																																																																				0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		47	388	0	0	0	1	0	47	388					G	109697313	A	G	109697313	2	3	102	1	0	0	0	0	0	0	0	1	13324	69	3	4		4	RGAG1	23	109697313	Silent	SNP	A	TCGA-LB-A7SX-01A-11D-A33T-08	917146	109697313	45573247	353	35208											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				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						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	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.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		7	518						7	518	---	---	---	---	-	110406208	GAA	-	110406206	7	5	102	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-LB-A7SX-01A-11D-A33T-08	708893	110406206	44864354	354	35209											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				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)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	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.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		9	473						9	473	---	---	---	---	-	135585050	AAG	-	135585048	7	5	102	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-LB-A7SX-01A-11D-A33T-08	25178842	135585048	19685512	355	35210											
IL9R	3581	broad.mit.edu	37	chrX	155239804	155239804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tcagagggcagcaggagcagCagcagcagcagcagcagcaa	15	11	1	1			TCGA-LB-A7SX-01A-11D-A33T-08	TCGA-LB-A7SX-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4b53f23-f5e7-431d-b4f7-05291a2a2817	1812ab16-427e-4d05-896f-58697b0f3805	g.chrX:155239804C>G	ENST00000244174.5	+	9	1475	c.1296C>G	c.(1294-1296)agC>agG	p.S432R	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S411R	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																																						ENST00000424344.3																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(1231-1233)agC>agG		interleukin 9 receptor							17	27	24					X																	155239804		2201	4295	6496	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239804C>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1296C>G	X.37:g.155239804C>G	ENSP00000244174:p.Ser432Arg					IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S432R|IL9R_ENST00000369423.2_3'UTR	p.S411R			Q01113	IL9R_HUMAN			10	1600	+	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)		432					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1233C>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	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		0.627	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		4	79	0	0	0	1	0	4	79					G	155239804	C	G	155239804	3	3	102	1	0	0	0	0	1	0	0	0	7738	709	25	5	1330	5	IL9R	23	155239804	Missense_Mutation	SNP	C	TCGA-LB-A7SX-01A-11D-A33T-08	19654756	155239804	30756	356	35211											
PEX14	5195	broad.mit.edu	37	chr1	10689967	10689967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagggaggaccgccggggcGgggatgggcagatcaacgag	21	8	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:10689967G>A	ENST00000356607.4	+	9	1137	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	PEX14_ENST00000538836.1_Missense_Mutation_p.G289R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	353					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCCGGGGCGGGGATGGGCA	0.677																																						ENST00000356607.4																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13						c.(1057-1059)Ggg>Agg		peroxisomal biogenesis factor 14							145	157	153					1																	10689967		2202	4300	6502	SO:0001583	missense	5195				negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity	g.chr1:10689967G>A	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1057G>A	1.37:g.10689967G>A	ENSP00000349016:p.Gly353Arg					PEX14_ENST00000538836.1_Missense_Mutation_p.G289R	p.G353R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)	9	1137	+	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)	353					B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	ENST00000356607.4	37	c.1057G>A	CCDS30582.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263963	0.95399	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.56611	0.7;0.45	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.97110	1.0;0.877	T	0.68288	-0.5448	10	0.87932	D	0	.	17.665	0.88200	0.0:0.0:1.0:0.0	.	310;353	O75381-2;O75381	.;PEX14_HUMAN	R	353;289	ENSP00000349016:G353R;ENSP00000444877:G289R	ENSP00000349016:G353R	G	+	1	0	PEX14	10612554	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	9.328000	0.96403	2.249000	0.74217	0.462000	0.41574	GGG		0.677	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005414.1			4	122	0	0	0	1	0	4	122					A	10689967	G	A	10689967	3	1	103	1	0	0	0	0	1	0	0	0	11784	1116	39	1	1091	1	PEX14	1	10689967	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		10689967	238560654	1	35212											
MFSD2A	84879	broad.mit.edu	37	chr1	40434030	40434030	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcctgatgtcattgaCgacttccatctgaagcagcc	9	12	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:40434030C>T	ENST00000372809.5	+	12	1415	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	MFSD2A_ENST00000420632.2_Silent_p.D255D|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.D411D	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	424					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATGTCATTGACGACTTCCATC	0.537																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1270-1272)gaC>gaT		major facilitator superfamily domain containing 2A							164	131	143					1																	40434030		2203	4300	6503	SO:0001819	synonymous_variant	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40434030C>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"major facilitator superfamily domain containing 2"	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1272C>T	1.37:g.40434030C>T						MFSD2A_ENST00000372811.5_Silent_p.D411D|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.D255D	p.D424D	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			12	1415	+			424					A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	c.1272C>T	CCDS44118.1																																																																																				0.537	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		4	226	0	0	0	1	0	4	226					T	40434030	C	T	40434030	2	4	103	1	0	0	0	0	0	0	0	1	9571	535	19	1		1	MFSD2A	1	40434030	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	29744063	40434030	208816591	2	35213											
CLCA1	1179	broad.mit.edu	37	chr1	86964283	86964283	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggaatccaccaagaccTgaaattaataaggatgatgt	8	7	0	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:86964283T>C	ENST00000234701.3	+	14	2493	c.2142T>C	c.(2140-2142)ccT>ccC	p.P714P	CLCA1_ENST00000394711.1_Silent_p.P714P			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	714					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CACCAAGACCTGAAATTAATA	0.393																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2140-2142)ccT>ccC		chloride channel accessory 1							95	95	95					1																	86964283		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86964283T>C		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"chloride channel, calcium activated, family member 1", "chloride channel regulator 1"			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2142T>C	1.37:g.86964283T>C						CLCA1_ENST00000394711.1_Silent_p.P714P	p.P714P			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	14	2493	+		Lung NSC(277;0.239)	714					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.2142T>C	CCDS709.1																																																																																				0.393	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		5	379	0	0	0	1	0	5	379					C	86964283	T	C	86964283	2	2	103	1	0	0	0	0	0	0	0	1	3466	1567	55	4		4	CLCA1	1	86964283	Silent	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	46530253	86964283	162286338	3	35214											
SORT1	6272	broad.mit.edu	37	chr1	109865648	109865648	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggatgacttgcgtagccGcagaaactgttctttgtagc	11	10	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:109865648G>A	ENST00000256637.6	-	15	1988	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	644	Interactions with LRPAP1 and NGFB.				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)		TTGCGTAGCCGCAGAAACTGT	0.488																																						ENST00000256637.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(1930-1932)Cgg>Tgg		sortilin 1							141	134	136					1																	109865648		2203	4300	6503	SO:0001583	missense	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109865648G>A	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.1930C>T	1.37:g.109865648G>A	ENSP00000256637:p.Arg644Trp					SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	p.R644W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	15	1988	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	644			Interactions with LRPAP1 and NGFB.		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	c.1930C>T	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317671	0.81469	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.46819	0.86;0.86	5.64	3.73	0.42828	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70353	-0.4895	10	0.87932	D	0	-17.4155	13.9284	0.63978	0.0:0.0:0.7226:0.2774	.	507;644	B4DWI3;Q99523	.;SORT_HUMAN	W	644;507	ENSP00000256637:R644W;ENSP00000438597:R507W	ENSP00000256637:R644W	R	-	1	2	SORT1	109667171	1.000000	0.71417	0.697000	0.30258	0.965000	0.64279	6.008000	0.70739	0.713000	0.32060	-0.268000	0.10319	CGG		0.488	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959		4	265	0	0	0	1	0	4	265					A	109865648	G	A	109865648	3	1	103	1	0	0	0	0	1	0	0	0	14985	1086	38	1	589	1	SORT1	1	109865648	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	22901365	109865648	139384973	4	35215											
SPRR4	163778	broad.mit.edu	37	chr1	152944387	152944389	+	In_Frame_Del	DEL	GCG	GCG	-													atgtcttcccagcagcagcaGcggcagcagcagcagtgccc					rs73010454|rs201207143	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:152944387_152944389delGCG	ENST00000328051.2	+	2	70_72	c.21_23delGCG	c.(19-24)cagcgg>cag	p.R8del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcagcggcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(19-24)cag>ca		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944387_152944389delGCG	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.21_23delGCG	1.37:g.152944387_152944389delGCG	ENSP00000332163:p.Arg8del						p.QR7del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	70_72	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		7			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.21_23delGCG	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		31	1295						31	1295	---	---	---	---	-	152944389	GCG	-	152944387	7	5	103	1	0	1	0	1	0	0	0	0	15156	962	34	0	23	0	SPRR4	1	152944387	In_Frame_Del	DEL	GCG	TCGA-LB-A8F3-01A-11D-A36O-08	43078739	152944387	96306234	5	35216											
NPR1	4881	broad.mit.edu	37	chr1	153661467	153661467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaacctgctgtcccGcatggagcagtacgcgaaca	11	14	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:153661467G>A	ENST00000368680.3	+	16	2928	c.2456G>A	c.(2455-2457)cGc>cAc	p.R819H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	819					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)	CTGCTGTCCCGCATGGAGCAG	0.627																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2455-2457)cGc>cAc		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						129	114	119					1																	153661467		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153661467G>A	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.2456G>A	1.37:g.153661467G>A	ENSP00000357669:p.Arg819His						p.R819H	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2928	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		819					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2456G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107454	0.77096	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62498	0.02	3.35	3.35	0.38373	Protein kinase-like domain (1);	0.221107	0.37483	N	0.002064	T	0.79070	0.4384	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.972	D	0.83584	0.0119	10	0.66056	D	0.02	.	12.9982	0.58660	0.0:0.0:1.0:0.0	.	298;819	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	819;298	ENSP00000357669:R819H	ENSP00000357669:R819H	R	+	2	0	NPR1	151928091	1.000000	0.71417	0.998000	0.56505	0.604000	0.37047	9.509000	0.98002	2.170000	0.68504	0.455000	0.32223	CGC		0.627	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		6	872	0	0	0	1	0	6	872					A	153661467	G	A	153661467	3	1	103	1	0	0	0	0	1	0	0	0	10636	1087	38	1	2518	1	NPR1	1	153661467	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	717080	153661467	95589154	6	35217											
CD1B	910	broad.mit.edu	37	chr1	158299919	158299919	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccctggatctcaaagggGtctatgtagagggaaaagag	14	6	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:158299919G>A	ENST00000368168.3	-	3	437	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	110					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)					TCTCAAAGGGGTCTATGTAGA	0.428																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.e3-1		CD1b molecule							133	137	136					1																	158299919		2203	4300	6503	SO:0001630	splice_region_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299919G>A	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.329-1C>T	1.37:g.158299919G>A							p.Y110_splice	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			3	437	-	all_hematologic(112;0.0378)		110					Q5TDK9|Q5TDL0|Q9UMM2	Splice_Site	SNP	ENST00000368168.3	37	c.328_splice	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	1.531	-0.544230	0.04024	.	.	ENSG00000158485	ENST00000451207	.	.	.	4.45	-3.42	0.04825	.	.	.	.	.	T	0.25717	0.0626	.	.	.	0.38491	D	0.947979	.	.	.	.	.	.	T	0.31081	-0.9956	4	.	.	.	.	5.1937	0.15225	0.5354:0.0:0.3163:0.1484	.	.	.	.	S	78	.	.	P	-	1	0	CD1B	156566543	0.141000	0.22595	0.289000	0.24876	0.417000	0.31264	-1.396000	0.02513	-0.854000	0.04131	0.655000	0.94253	CCC		0.428	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764	Silent	34	1287	0	0	0	1	0	34	1287					A	158299919	G	A	158299919	5	1	103	1	0	0	0	0	0	0	1	0	2984	1275	44	2	687	2	CD1B	1	158299919	Splice_Site	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	4638452	158299919	90950702	7	35218											
COPA	1314	broad.mit.edu	37	chr1	160261696	160261696	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaacccacaatgtactcacgGcaaatggtgatgagctgctg	10	10	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3169-3171)tgC>tgT		coatomer protein complex, subunit alpha							191	193	192					1																	160261696		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160261696G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3171C>T	1.37:g.160261696G>A			OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1807	COPA_ENST00000368069.3_Silent_p.C1066C	p.C1057C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		30	3400	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1057					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.3171C>T	CCDS1202.1																																																																																				0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		9	1467	0	0	0	1	0	9	1467					A	160261696	G	A	160261696	2	1	103	1	0	0	0	0	0	0	0	1	3736	1195	42	2		2	COPA	1	160261696	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1961777	160261696	88988925	8	35219											
COPA	1314	broad.mit.edu	37	chr1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T													ccaccgcaccaggggacaggINSttttttttcctcagaccttt							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)aacfs	p.N171fs	COPA_ENST00000368069.3_Frame_Shift_Ins_p.N171fs|Y_RNA_ENST00000365208.1_RNA	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(511-513)actfs		coatomer protein complex, subunit alpha																																				SO:0001589	frameshift_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160295426_160295427insT	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.513dupA	1.37:g.160295434_160295434dupT	ENSP00000241704:p.Asn171fs					COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs	p.T171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	741_742	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		171					Q5T201|Q8IXZ9	Frame_Shift_Ins	INS	ENST00000241704.7	37	c.512_513insA	CCDS1202.1																																																																																				0.406	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		8	934						8	934	---	---	---	---	T	160295427	-	T	160295426	7	5	103	1	0	1	1	0	0	0	0	0	3736	1252	44	0	3296	0	COPA	1	160295426	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	33730	160295426	88955195	9	35220											
MAEL	84944	broad.mit.edu	37	chr1	166987189	166987189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtattggatgcagggcGttaccaggtaaggaactgac	15	6	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:166987189G>A	ENST00000367872.4	+	10	1278	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	MAEL_ENST00000367870.2_Missense_Mutation_p.R314H|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	345					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						GATGCAGGGCGTTACCAGGTA	0.443																																						ENST00000367872.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						c.(1033-1035)cGt>cAt		maelstrom spermatogenic transposon silencer							146	122	130					1																	166987189		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166987189G>A	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.1034G>A	1.37:g.166987189G>A	ENSP00000356846:p.Arg345His					MAEL_ENST00000367870.2_Missense_Mutation_p.R314H|MAEL_ENST00000491055.1_3'UTR	p.R345H	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN			10	1278	+			345					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1034G>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356516	0.61293	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.60040	0.22;0.27;0.6	5.69	4.76	0.60689	.	0.000000	0.64402	D	0.000015	T	0.32071	0.0817	L	0.29908	0.895	0.44816	D	0.997822	D;P	0.57257	0.979;0.954	B;B	0.42995	0.328;0.404	T	0.20571	-1.0271	10	0.46703	T	0.11	.	11.9142	0.52755	0.0:0.0:0.8258:0.1742	.	314;345	E9JVC3;Q96JY0	.;MAEL_HUMAN	H	345;314;314;67	ENSP00000356846:R345H;ENSP00000356844:R314H;ENSP00000402143:R314H	ENSP00000356844:R314H	R	+	2	0	MAEL	165253813	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.141000	0.64814	1.381000	0.46364	0.555000	0.69702	CGT		0.443	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		14	712	0	0	0	1	0	14	712					A	166987189	G	A	166987189	3	1	103	1	0	0	0	0	1	0	0	0	9193	1145	40	1	1072	1	MAEL	1	166987189	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	6691763	166987189	82263432	10	35221											
DPT	1805	broad.mit.edu	37	chr1	168698178	168698178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggctctgtggcgtggGcatgcaggcgtagttccatt	15	11	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:168698178G>A	ENST00000367817.3	-	1	324	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	79	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGTGGCGTGGGCATGCAGGCG	0.602																																						ENST00000367817.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(235-237)Ccc>Tcc		dermatopontin							164	129	141					1																	168698178		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698178G>A	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.235C>T	1.37:g.168698178G>A	ENSP00000356791:p.Pro79Ser						p.P79S	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			1	324	-	all_hematologic(923;0.208)		79			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.235C>T	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089043	0.55968	.	.	ENSG00000143196	ENST00000367817	T	0.41065	1.01	5.0	5.0	0.66597	.	0.056024	0.64402	D	0.000001	T	0.32406	0.0828	L	0.54323	1.7	0.44562	D	0.997526	P	0.50819	0.939	P	0.50934	0.654	T	0.25047	-1.0143	9	0.06365	T	0.9	-6.6201	17.894	0.88881	0.0:0.0:1.0:0.0	.	79	Q07507	DERM_HUMAN	S	79	ENSP00000356791:P79S	ENSP00000356791:P79S	P	-	1	0	DPT	166964802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.152000	0.71812	2.293000	0.77203	0.655000	0.94253	CCC		0.602	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		6	871	0	0	0	1	0	6	871					A	168698178	G	A	168698178	3	1	103	1	0	0	0	0	1	0	0	0	4755	1203	42	2	386	2	DPT	1	168698178	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1710989	168698178	80552443	11	35222											
SLC9A11	284525	broad.mit.edu	37	chr1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-													ctgttgccccgaaaatttccAaaaaaaattgatgcgatgct							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)tttfs	p.F199fs	SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAAAATTTCCAAAAAAAATTG	0.279																																						ENST00000367714.3																			0											c.(595-597)ttfs		solute carrier family 9, member C2 (putative)							52	56	54					1																	173552688		2203	4298	6501	SO:0001589	frameshift_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552688delA	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.597delT	1.37:g.173552688delA	ENSP00000356687:p.Phe199fs					RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs	p.F199fs	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			6	1019	-			199					Q86UF3	Frame_Shift_Del	DEL	ENST00000367714.3	37	c.597delT	CCDS1308.1																																																																																				0.279	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		9	1224						9	1224	---	---	---	---	-	173552688	A	-	173552688	7	5	103	1	0	1	0	1	0	0	0	0	14761	127	5	0	2869	0	SLC9A11	1	173552688	Frame_Shift_Del	DEL	A	TCGA-LB-A8F3-01A-11D-A36O-08	4854510	173552688	75697933	12	35223											
FAM5B	57795	broad.mit.edu	37	chr1	177245375	177245375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatctgcgtgagcgctttGtagctgcagcactcagctac	11	11	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:177245375G>A	ENST00000361539.4	+	6	1129	c.817G>A	c.(817-819)Gta>Ata	p.V273I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	273	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TGAGCGCTTTGTAGCTGCAGC	0.552																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(817-819)Gta>Ata									69	61	64					1																	177245375		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr1:177245375G>A		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.817G>A	1.37:g.177245375G>A	ENSP00000354481:p.Val273Ile					FAM5B_ENST00000478325.1_3'UTR	p.V273I	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			6	1129	+			273					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.817G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270045	0.95429	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.19938	2.11	6.07	6.07	0.98685	Membrane attack complex component/perforin (MACPF) domain (1);	0.058877	0.64402	D	0.000002	T	0.47857	0.1468	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.958;0.984	D;P;D	0.83275	0.996;0.744;0.967	T	0.25433	-1.0132	10	0.62326	D	0.03	-18.9893	20.239	0.98366	0.0:0.0:1.0:0.0	.	23;168;273	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	I	23;273	ENSP00000354481:V273I	ENSP00000354481:V273I	V	+	1	0	FAM5B	175511998	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.860000	0.86993	2.884000	0.98904	0.655000	0.94253	GTA		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		39	557	0	0	0	1	0	39	557					A	177245375	G	A	177245375	3	1	103	1	0	0	0	0	1	0	0	0	5618	1377	48	2	835	2	FAM5B	1	177245375	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	3692687	177245375	72005246	13	35224											
DHX9	1660	broad.mit.edu	37	chr1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-													tgttcctggagctgtgttggTttttttgcctggctggaatc							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171	155	160					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	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.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		8	1331						8	1331	---	---	---	---	-	182845333	T	-	182845333	7	5	103	1	0	1	0	1	0	0	0	0	4532	1725	60	0	2026	0	DHX9	1	182845333	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08	5599958	182845333	66405288	14	35225											
NAV1	89796	broad.mit.edu	37	chr1	201777998	201777998	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagtcttgcagacacAggtacctgtgtgggagaaga	14	10	1	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:201777998A>G	ENST00000367296.4	+	20	4626	c.4206A>G	c.(4204-4206)acA>acG	p.T1402T	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367295.1_Splice_Site_p.T1008T|NAV1_ENST00000367300.3_Splice_Site_p.T1342T|NAV1_ENST00000295624.6_Splice_Site_p.T1399T|NAV1_ENST00000367302.1_Splice_Site_p.T1355T|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Splice_Site_p.T1394T	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1402					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						TTGCAGACACAGGTACCTGTG	0.537																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.e20+1		neuron navigator 1							55	54	54					1																	201777998		2174	4266	6440	SO:0001630	splice_region_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201777998A>G	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.4207+1A>G	1.37:g.201777998A>G						NAV1_ENST00000367295.1_Splice_Site_p.T1008_splice|NAV1_ENST00000367302.1_Splice_Site_p.T1355_splice|NAV1_ENST00000295624.6_Splice_Site_p.T1399_splice|NAV1_ENST00000367300.3_Splice_Site_p.T1342_splice|NAV1_ENST00000367297.4_Splice_Site_p.T1394_splice|IPO9-AS1_ENST00000413035.1_RNA	p.T1402_splice	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			20	4626	+			1402					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Splice_Site	SNP	ENST00000367296.4	37	c.4207_splice	CCDS1414.2																																																																																				0.537	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443	Silent	6	524	0	0	0	1	0	6	524					G	201777998	A	G	201777998	5	3	103	1	0	0	0	0	0	0	1	0	10224	202	7	4	4341	4	NAV1	1	201777998	Splice_Site	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	18932665	201777998	47472623	15	35226											
PIK3C2B	5287	broad.mit.edu	37	chr1	204412697	204412697	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctggtagcggatgctgaactGagagtccttgaggccgtcct	14	10	0	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:204412697G>A	ENST00000367187.3	-	20	3452	c.2896C>T	c.(2896-2898)Cag>Tag	p.Q966*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q938*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	966	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGCTGAACTGAGAGTCCTTG	0.567																																						ENST00000367187.3																			0				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						c.(2896-2898)Cag>Tag		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							116	114	115					1																	204412697		2203	4300	6503	SO:0001587	stop_gained	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204412697G>A	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.2896C>T	1.37:g.204412697G>A	ENSP00000356155:p.Gln966*					PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q938*	p.Q966*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	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)		20	3452	-	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)		966					O95666|Q5SW99	Nonsense_Mutation	SNP	ENST00000367187.3	37	c.2896C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	46	12.910723	0.99705	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	13.2926	0.60278	0.0728:0.0:0.9272:0.0	.	.	.	.	X	966;938	.	ENSP00000356155:Q966X	Q	-	1	0	PIK3C2B	202679320	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	4.809000	0.62591	2.847000	0.97988	0.591000	0.81541	CAG		0.567	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		59	1528	0	0	0	1	0	59	1528					A	204412697	G	A	204412697	4	1	103	1	0	0	0	0	0	1	0	0	11952	1299	45	2	2068	2	PIK3C2B	1	204412697	Nonsense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	2634699	204412697	44837924	16	35227											
PLXNA2	5362	broad.mit.edu	37	chr1	208218554	208218554	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagggcagaggtttttgCcctgtagagaatagcagtct	14	7	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:208218554C>T	ENST00000367033.3	-	19	4254	c.3497G>A	c.(3496-3498)gGc>gAc	p.G1166D		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1166	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)		GAGGTTTTTGCCCTGTAGAGA	0.498																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.e19-1		plexin A2							117	106	110					1																	208218554		2203	4300	6503	SO:0001630	splice_region_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208218554C>T	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.3496-1G>A	1.37:g.208218554C>T							p.G1166_splice	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	19	4254	-			1166			IPT/TIG 4.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Splice_Site	SNP	ENST00000367033.3	37	c.3495_splice	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002818	0.93287	.	.	ENSG00000076356	ENST00000367033	D	0.98164	-4.76	5.11	5.11	0.69529	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.176324	0.64402	D	0.000013	D	0.99284	0.9750	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98922	1.0784	10	0.87932	D	0	.	18.5719	0.91138	0.0:1.0:0.0:0.0	.	1166	O75051	PLXA2_HUMAN	D	1166	ENSP00000356000:G1166D	ENSP00000356000:G1166D	G	-	2	0	PLXNA2	206285177	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.538000	0.82048	2.375000	0.81037	0.563000	0.77884	GGC		0.498	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	Missense_Mutation	5	575	0	0	0	1	0	5	575					T	208218554	C	T	208218554	5	4	103	1	0	0	0	0	0	0	1	0	12162	753	26	2	2243	2	PLXNA2	1	208218554	Splice_Site	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	3805857	208218554	41032067	17	35228											
CENPF	1063	broad.mit.edu	37	chr1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-													ggagaattagatactatgtcAaaaaaaaccacggcactgga							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcafs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					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)		ATACTATGTCAAAAAAAACCA	0.408																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5911-5913)tcfs		centromere protein F, 350/400kDa				15,4251		3,9,2121	53	58	56			1.9	0.1	1		57	17,8235		5,7,4114	no	frameshift	CENPF	NM_016343.3		8,16,6235	A1A1,A1R,RR		0.206,0.3516,0.2556			214818826	32,12486	2203	4300	6503	SO:0001589	frameshift_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818826delA	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.5913delA	1.37:g.214818826delA	ENSP00000355922:p.Ser1971fs						p.S1971fs	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6081	+			2067					Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	37	c.5913delA	CCDS31023.1																																																																																				0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		7	595						7	595	---	---	---	---	-	214818826	A	-	214818826	7	5	103	1	0	1	0	1	0	0	0	0	3240	117	5	0	5959	0	CENPF	1	214818826	Frame_Shift_Del	DEL	A	TCGA-LB-A8F3-01A-11D-A36O-08	6600272	214818826	34431795	18	35229											
OBSCN	84033	broad.mit.edu	37	chr1	228495118	228495118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgggccccaagtacgagatgCggagccagggggccacgcgg	18	13	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:228495118C>T	ENST00000422127.1	+	46	12396	c.12352C>T	c.(12352-12354)Cgg>Tgg	p.R4118W	OBSCN_ENST00000366709.4_Missense_Mutation_p.R1237W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1752W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4118W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5075W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4118	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)				GTACGAGATGCGGAGCCAGGG	0.662																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15223-15225)Cgg>Tgg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							27	39	35					1																	228495118		2118	4211	6329	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495118C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12352C>T	1.37:g.228495118C>T	ENSP00000409493:p.Arg4118Trp					OBSCN_ENST00000422127.1_Missense_Mutation_p.R4118W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1237W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4118W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1752W	p.R5075W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			57	15297	+		Prostate(94;0.0405)	4118					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15223C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897492	0.52121	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.79	1.41	0.22369	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.288780	0.05292	N	0.521231	T	0.76572	0.4006	L	0.53729	1.69	0.24836	N	0.992496	D;B	0.89917	1.0;0.37	D;B	0.78314	0.991;0.059	T	0.57505	-0.7800	10	0.54805	T	0.06	.	6.5659	0.22511	0.5717:0.2742:0.0:0.154	.	4118;4118	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	W	4118;4118;1752;1237	ENSP00000284548:R4118W;ENSP00000409493:R4118W;ENSP00000355668:R1752W;ENSP00000355670:R1237W	ENSP00000284548:R4118W	R	+	1	2	OBSCN	226561741	0.809000	0.29036	0.030000	0.17652	0.186000	0.23388	0.384000	0.20668	0.364000	0.24374	-0.515000	0.04445	CGG		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	172	0	0	0	1	0	4	172					T	228495118	C	T	228495118	3	4	103	1	0	0	0	0	1	0	0	0	10854	759	27	1	12530	1	OBSCN	1	228495118	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	13676292	228495118	20755503	19	35230											
ARID4B	51742	broad.mit.edu	37	chr1	235357387	235357387	+	Frame_Shift_Del	DEL	T	T	-													taatatgagcagtatcagagTttttggcatcagtgagatcc					rs186887825		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:235357387delT	ENST00000264183.3	-	19	2563	c.2066delA	c.(2065-2067)aacfs	p.N689fs	ARID4B_ENST00000366603.2_Frame_Shift_Del_p.N689fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.N603fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	689					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)			AGTATCAGAGTTTTTGGCATC	0.373																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2065-2067)acfs		AT rich interactive domain 4B (RBP1-like)							174	166	169					1																	235357387		2203	4300	6503	SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235357387delT	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.2066delA	1.37:g.235357387delT	ENSP00000264183:p.Asn689fs					ARID4B_ENST00000349213.3_Frame_Shift_Del_p.N603fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.N689fs	p.N689fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		19	2563	-	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)	689					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	c.2066delA	CCDS31061.1																																																																																				0.373	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		7	1213						7	1213	---	---	---	---	-	235357387	T	-	235357387	7	5	103	1	0	1	0	1	0	0	0	0	920	1725	60	0	1896	0	ARID4B	1	235357387	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08	6862269	235357387	13893234	20	35231											
ERO1LB	56605	broad.mit.edu	37	chr1	236388388	236388388	+	Frame_Shift_Del	DEL	T	T	-													acctttagtgacttggccccTtttttgtcacctgcaaacat							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:236388388delT	ENST00000354619.5	-	13	1305	c.1104delA	c.(1102-1104)aaafs	p.K368fs		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	368					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ACTTGGCCCCTTTTTTGTCAC	0.403																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1102-1104)aafs		ERO1-like beta (S. cerevisiae)							160	150	154					1																	236388388		2203	4300	6503	SO:0001589	frameshift_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236388388delT	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.1104delA	1.37:g.236388388delT	ENSP00000346635:p.Lys368fs						p.K368fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		13	1305	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	368					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Frame_Shift_Del	DEL	ENST00000354619.5	37	c.1104delA	CCDS31064.1																																																																																				0.403	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		10	1078						10	1078	---	---	---	---	-	236388388	T	-	236388388	7	5	103	1	0	1	0	1	0	0	0	0	5258	1606	56	0	315	0	ERO1LB	1	236388388	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08	1031001	236388388	12862233	21	35232											
SLC1A4	6509	broad.mit.edu	37	chr2	65243676	65243676	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatacatcttcgcatcTatattgggccatgttattca	8	8	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:65243676T>A	ENST00000234256.3	+	5	1146	c.903T>A	c.(901-903)tcT>tcA	p.S301S	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	301					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCTTCGCATCTATATTGGGCC	0.458																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(901-903)tcT>tcA		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						184	178	180					2																	65243676		2203	4300	6503	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243676T>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.903T>A	2.37:g.65243676T>A						SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	p.S301S	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			5	1146	+			301					B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.903T>A	CCDS1879.1																																																																																				0.458	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		18	475	0	0	0	1	0	18	475					A	65243676	T	A	65243676	2	1	103	1	0	0	0	0	0	0	0	1	14484	1509	53	5		5	SLC1A4	2	65243676	Silent	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08		65243676	177955697	22	35233											
TGOLN2	10618	broad.mit.edu	37	chr2	85554633	85554633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgtcttctggggtctgCgcctccgcactcgacttgct	14	13	3	0	rs556852343		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:85554633C>T	ENST00000409232.3	-	2	283	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000377386.3_Silent_p.A74A|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783). {ECO:0000305}.		Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTGGGGTCTGCGCCTCCGCAC	0.607																																						ENST00000377386.3																			0											c.(220-222)gcG>gcA		trans-golgi network protein 2							175	176	176					2																	85554633		1949	4138	6087	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554633C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.222G>A	2.37:g.85554633C>T						TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000398263.2_Silent_p.A74A	p.A74A			O43493	TGON2_HUMAN			2	684	-			74	A -> P (in Ref. 4; BAD96783).		14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.222G>A	CCDS56126.1																																																																																				0.607	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		9	1299	0	0	0	1	0	9	1299					T	85554633	C	T	85554633	2	4	103	1	0	0	0	0	0	0	0	1	15888	755	27	1		1	TGOLN2	2	85554633	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	20310957	85554633	157644740	23	35234											
CNGA3	1261	broad.mit.edu	37	chr2	99013711	99013711	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaaacagaggacaaacAacagtgaaaatgcagcatct	7	8	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:99013711A>G	ENST00000272602.2	+	7	2117	c.2078A>G	c.(2077-2079)cAa>cGa	p.Q693R	CNGA3_ENST00000409937.1_Missense_Mutation_p.Q697R|CNGA3_ENST00000393504.1_Missense_Mutation_p.Q693R|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q675R			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	693					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						GAGGACAAACAACAGTGAAAA	0.562																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(2077-2079)cAa>cGa		cyclic nucleotide gated channel alpha 3							28	30	29					2																	99013711		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013711A>G	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.2078A>G	2.37:g.99013711A>G	ENSP00000272602:p.Gln693Arg					CNGA3_ENST00000409937.1_Missense_Mutation_p.Q697R|CNGA3_ENST00000272602.2_Missense_Mutation_p.Q693R|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q675R	p.Q693R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			8	2495	+			693					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.2078A>G	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281297	0.59758	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97553	-4.27;-4.21;-4.27;-4.43	5.18	-1.08	0.09936	.	1.144930	0.06868	N	0.800336	D	0.90195	0.6935	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29716	0.255;0.0;0.0	B;B;B	0.16722	0.016;0.001;0.001	T	0.81933	-0.0706	10	0.10377	T	0.69	.	0.7756	0.01031	0.4129:0.1827:0.2527:0.1518	.	697;675;693	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	R	693;675;693;697	ENSP00000377140:Q693R;ENSP00000410070:Q675R;ENSP00000272602:Q693R;ENSP00000386761:Q697R	ENSP00000272602:Q693R	Q	+	2	0	CNGA3	98380143	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	0.012000	0.13287	-0.316000	0.08690	0.533000	0.62120	CAA		0.562	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		7	143	0	0	0	1	0	7	143					G	99013711	A	G	99013711	3	3	103	1	0	0	0	0	1	0	0	0	3607	130	5	4	2104	4	CNGA3	2	99013711	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	13459078	99013711	144185662	24	35235											
ITGA6	3655	broad.mit.edu	37	chr2	173335733	173335733	+	Frame_Shift_Del	DEL	T	T	-													gtagagcaaaagaataacacTttttttgacatgaacatctt							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:173335733delT	ENST00000264106.6	+	5	878	c.675delT	c.(673-675)actfs	p.T225fs	ITGA6_ENST00000409080.1_Frame_Shift_Del_p.T225fs|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264107.7_Frame_Shift_Del_p.T225fs|ITGA6_ENST00000375221.2_Frame_Shift_Del_p.T225fs|ITGA6_ENST00000409532.1_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	225					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAATAACACTTTTTTTGACA	0.348																																						ENST00000375221.2																			0				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						c.(673-675)acfs		integrin, alpha 6							119	105	110					2																	173335733		2203	4300	6503	SO:0001589	frameshift_variant	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173335733delT		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.675delT	2.37:g.173335733delT	ENSP00000264106:p.Thr225fs					ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000264106.6_Frame_Shift_Del_p.T225fs|ITGA6_ENST00000409080.1_Frame_Shift_Del_p.T225fs|ITGA6_ENST00000264107.7_Frame_Shift_Del_p.T225fs	p.T225fs			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		5	878	+			225					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Del	DEL	ENST00000264106.6	37	c.675delT																																																																																					0.348	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				8	520						8	520	---	---	---	---	-	173335733	T	-	173335733	7	5	103	1	0	1	0	1	0	0	0	0	7910	1596	56	0	693	0	ITGA6	2	173335733	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08	74322022	173335733	69863640	25	35236											
FAM171B	165215	broad.mit.edu	37	chr2	187626909	187626909	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggtcaacagagcctgCcatcccaggcttcagattgg	11	11	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:187626909C>T	ENST00000304698.5	+	8	2043	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	614						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						ACAGAGCCTGCCATCCCAGGC	0.483																																						ENST00000304698.5																			0				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						c.(1840-1842)Cca>Tca		family with sequence similarity 171, member B							75	79	78					2																	187626909		2203	4300	6503	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626909C>T	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.1840C>T	2.37:g.187626909C>T	ENSP00000304108:p.Pro614Ser						p.P614S	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	2043	+			614					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1840C>T	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	8.496	0.863233	0.17250	.	.	ENSG00000144369	ENST00000304698	T	0.27890	1.64	5.85	5.85	0.93711	.	0.072813	0.56097	D	0.000025	T	0.23410	0.0566	N	0.25647	0.755	0.32038	N	0.598562	B;B	0.18461	0.028;0.028	B;B	0.24848	0.056;0.056	T	0.15780	-1.0425	10	0.26408	T	0.33	-16.0957	12.8401	0.57797	0.0:0.884:0.0:0.116	.	614;615	Q6P995;A8K122	F171B_HUMAN;.	S	614	ENSP00000304108:P614S	ENSP00000304108:P614S	P	+	1	0	FAM171B	187335154	0.101000	0.21875	1.000000	0.80357	0.980000	0.70556	1.693000	0.37742	2.753000	0.94483	0.655000	0.94253	CCA		0.483	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		33	287	0	0	0	1	0	33	287					T	187626909	C	T	187626909	3	4	103	1	0	0	0	0	1	0	0	0	5512	739	26	2	1870	2	FAM171B	2	187626909	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	14291176	187626909	55572464	26	35237											
MYO1B	4430	broad.mit.edu	37	chr2	192261178	192261178	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaggtaccagcagacAaagagttccgccttagtaat	9	9	0	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:192261178A>G	ENST00000392318.3	+	21	2497	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	MYO1B_ENST00000392316.1_Silent_p.T750T|MYO1B_ENST00000304164.4_Silent_p.T750T|MYO1B_ENST00000339514.4_Silent_p.T750T|MYO1B_ENST00000439065.2_Silent_p.T24T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	750	IQ 3. {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)			ACCAGCAGACAAAGAGTTCCG	0.368																																						ENST00000392318.3																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2248-2250)acA>acG		myosin IB							151	148	149					2																	192261178		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192261178A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2250A>G	2.37:g.192261178A>G						MYO1B_ENST00000339514.4_Silent_p.T750T|MYO1B_ENST00000392316.1_Silent_p.T750T|MYO1B_ENST00000439065.2_Silent_p.T24T|MYO1B_ENST00000304164.4_Silent_p.T750T	p.T750T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		21	2497	+			750			IQ 3.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.2250A>G	CCDS46477.1																																																																																				0.368	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		20	548	0	0	0	1	0	20	548					G	192261178	A	G	192261178	2	3	103	1	0	0	0	0	0	0	0	1	10110	117	5	4		4	MYO1B	2	192261178	Silent	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	4634269	192261178	50938195	27	35238											
MPP4	58538	broad.mit.edu	37	chr2	202552087	202552087	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taggggtttcacgtaataacTccactacctggttcatggaa	9	9	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:202552087T>C	ENST00000409474.3	-	5	494	c.287A>G	c.(286-288)gAg>gGg	p.E96G	MPP4_ENST00000447335.2_Missense_Mutation_p.E96G|MPP4_ENST00000409143.1_Intron|MPP4_ENST00000396886.3_Missense_Mutation_p.E96G|MPP4_ENST00000428900.2_Missense_Mutation_p.E96G|MPP4_ENST00000359962.5_Missense_Mutation_p.E96G|MPP4_ENST00000315506.7_Missense_Mutation_p.E96G	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	96	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				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						ACGTAATAACTCCACTACCTG	0.393																																						ENST00000409474.3																			0				kidney(1)|lung(11)	12						c.(286-288)gAg>gGg		membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)							68	64	65					2																	202552087		1821	4080	5901	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202552087T>C	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.287A>G	2.37:g.202552087T>C	ENSP00000387278:p.Glu96Gly					MPP4_ENST00000396886.3_Missense_Mutation_p.E96G|MPP4_ENST00000315506.7_Missense_Mutation_p.E96G|MPP4_ENST00000428900.2_Missense_Mutation_p.E96G|MPP4_ENST00000359962.5_Missense_Mutation_p.E96G|MPP4_ENST00000409143.1_Intron|MPP4_ENST00000447335.2_Missense_Mutation_p.E96G	p.E96G	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN			5	494	-			96			L27 2.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.287A>G	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877332	0.33162	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000428900;ENST00000447335	T;T;T;T;T	0.06687	3.28;3.27;3.28;3.28;3.28	5.88	3.43	0.39272	L27, C-terminal (1);L27 (2);	0.697165	0.13777	N	0.363487	T	0.08044	0.0201	L	0.43757	1.38	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B	0.10296	0.003;0.002;0.002;0.002;0.001;0.002;0.003;0.001;0.001	B;B;B;B;B;B;B;B;B	0.13407	0.008;0.006;0.002;0.002;0.001;0.002;0.009;0.001;0.005	T	0.32079	-0.9920	10	0.52906	T	0.07	.	5.6829	0.17786	0.0:0.1486:0.1428:0.7086	.	96;96;96;96;96;96;109;96;96	B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;MPP4_HUMAN;.	G	96	ENSP00000387278:E96G;ENSP00000319363:E96G;ENSP00000353047:E96G;ENSP00000416781:E96G;ENSP00000406160:E96G	ENSP00000319363:E96G	E	-	2	0	MPP4	202260332	0.937000	0.31787	0.005000	0.12908	0.084000	0.17831	2.824000	0.48088	0.445000	0.26639	0.533000	0.62120	GAG		0.393	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			3	52	0	0	0	1	0	3	52					C	202552087	T	C	202552087	3	2	103	1	0	0	0	0	1	0	0	0	9777	1551	54	4	1698	4	MPP4	2	202552087	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	10290909	202552087	40647286	28	35239											
XRCC5	7520	broad.mit.edu	37	chr2	216990661	216990661	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagagtctgagaaaactgtgCgtcttcaagaaaattgagag	12	5	3	4			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:216990661C>T	ENST00000392133.3	+	9	1166	c.705C>T	c.(703-705)tgC>tgT	p.C235C	XRCC5_ENST00000392132.2_Silent_p.C235C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	235					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)		GAAAACTGTGCGTCTTCAAGA	0.368								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(703-705)tgC>tgT	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							103	105	104					2																	216990661		2203	4300	6503	SO:0001819	synonymous_variant	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216990661C>T	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.705C>T	2.37:g.216990661C>T						XRCC5_ENST00000392132.2_Silent_p.C235C	p.C235C			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	9	1166	+		Renal(323;0.0328)	235					A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Silent	SNP	ENST00000392133.3	37	c.705C>T	CCDS2402.1																																																																																				0.368	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		5	472	0	0	0	1	0	5	472					T	216990661	C	T	216990661	2	4	103	1	0	0	0	0	0	0	0	1	17510	776	27	1		1	XRCC5	2	216990661	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	14438574	216990661	26208712	29	35240											
RFTN1	23180	broad.mit.edu	37	chr3	16475415	16475415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctccaggggcgtcttctccCgctcatgggtgggctgcacg	15	14	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:16475415C>T	ENST00000334133.4	-	3	547	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RFTN1_ENST00000432519.1_Missense_Mutation_p.R56Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	92					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.R92L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CGTCTTCTCCCGCTCATGGGT	0.632																																						ENST00000334133.4																			1	Substitution - Missense(1)	p.R92L(1)	lung(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(274-276)cGg>cAg		raftlin, lipid raft linker 1							95	103	100					3																	16475415		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16475415C>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.275G>A	3.37:g.16475415C>T	ENSP00000334153:p.Arg92Gln					RFTN1_ENST00000432519.1_Missense_Mutation_p.R56Q	p.R92Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			3	547	-			92					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.275G>A	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	5.639	0.302648	0.10678	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.21	-8.08	0.01094	.	1.391410	0.04296	N	0.346433	T	0.13884	0.0336	N	0.16790	0.44	0.09310	N	1	B;B	0.20261	0.043;0.014	B;B	0.12837	0.008;0.003	T	0.13845	-1.0494	10	0.19147	T	0.46	0.1934	4.5627	0.12168	0.1791:0.1421:0.0834:0.5953	.	56;92	G3XAJ6;Q14699	.;RFTN1_HUMAN	Q	56;92;92;92;92;92	ENSP00000403926:R56Q;ENSP00000334153:R92Q;ENSP00000403997:R92Q;ENSP00000409427:R92Q;ENSP00000388718:R92Q;ENSP00000393216:R92Q	ENSP00000334153:R92Q	R	-	2	0	RFTN1	16450419	0.012000	0.17670	0.001000	0.08648	0.415000	0.31203	0.128000	0.15810	-2.466000	0.00533	-0.367000	0.07326	CGG		0.632	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		10	668	0	0	0	1	0	10	668					T	16475415	C	T	16475415	3	4	103	1	0	0	0	0	1	0	0	0	13308	652	23	1	1493	1	RFTN1	3	16475415	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		16475415	181547015	30	35241											
XIRP1	165904	broad.mit.edu	37	chr3	39228955	39228958	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													gaggctcggtctcaaagacgTgtctgtctgtctgtctttcc					rs374062592		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:39228955_39228958delTGTC	ENST00000340369.3	-	2	2207_2210	c.1979_1982delGACA	c.(1978-1983)agacacfs	p.RH660fs	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Frame_Shift_Del_p.RH660fs	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																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1978-1983)acfs		xin actin-binding repeat containing 1																																				SO:0001589	frameshift_variant	165904						actin binding	g.chr3:39228955_39228958delTGTC	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					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Frame_Shift_Del_p.RH660fs	p.RH660fs	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	2207_2210	-			660					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Frame_Shift_Del	DEL	ENST00000340369.3	37	c.1979_1982delGACA	CCDS2683.1																																																																																				0.618	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		7	233						7	233	---	---	---	---	-	39228958	TGTC	-	39228955	7	5	103	1	0	1	0	1	0	0	0	0	17483	1696	59	0	3553	0	XIRP1	3	39228955	Frame_Shift_Del	DEL	TGTC	TCGA-LB-A8F3-01A-11D-A36O-08	22753540	39228955	158793475	31	35242											
MST1R	4486	broad.mit.edu	37	chr3	49932677	49932677	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgacctcagccaagagcGcagagtccaggtcccttagc	10	15	1	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:49932677G>A	ENST00000296474.3	-	14	3221	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	MST1R_ENST00000344206.4_Missense_Mutation_p.A1016V	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1065					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)		AGCCAAGAGCGCAGAGTCCAG	0.577																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(3193-3195)gCg>gTg		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							190	189	189					3																	49932677		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49932677G>A	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.3194C>T	3.37:g.49932677G>A	ENSP00000296474:p.Ala1065Val					MST1R_ENST00000344206.4_Missense_Mutation_p.A1016V	p.A1065V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	14	3221	-			1065					B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3194C>T	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.12|16.12	3.033645|3.033645	0.54896|0.54896	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000296474;ENST00000344206|ENST00000440292	T;T|.	0.11385|.	2.78;2.78|.	5.84|5.84	0.269|0.269	0.15631|0.15631	Protein kinase-like domain (1);|.	0.629120|.	0.18429|.	N|.	0.141487|.	T|T	0.22085|0.22085	0.0532|0.0532	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.01281|.	0.0|.	T|T	0.26573|0.26573	-1.0099|-1.0099	10|5	0.59425|.	D|.	0.04|.	-0.2885|-0.2885	5.453|5.453	0.16574|0.16574	0.2685:0.0:0.4316:0.2999|0.2685:0.0:0.4316:0.2999	.|.	1065|.	Q04912|.	RON_HUMAN|.	V|C	1065;1016|86	ENSP00000296474:A1065V;ENSP00000341325:A1016V|.	ENSP00000296474:A1065V|.	A|R	-|-	2|1	0|0	MST1R|MST1R	49907681|49907681	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.449000|0.449000	0.32228|0.32228	1.130000|1.130000	0.31393|0.31393	-0.151000|-0.151000	0.11176|0.11176	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			6	798	0	0	0	1	0	6	798					A	49932677	G	A	49932677	3	1	103	1	0	0	0	0	1	0	0	0	9932	1087	38	1	1036	1	MST1R	3	49932677	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	10703722	49932677	148089753	32	35243											
RBM15B	29890	broad.mit.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-													catggggctgaggaacggggCcaccaccaccaccaccacga					rs147738916	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	107						7	107	---	---	---	---	-	51430824	CCA	-	51430822	7	5	103	1	0	1	0	1	0	0	0	0	13167	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-LB-A8F3-01A-11D-A36O-08	1498145	51430822	146591608	33	35244											
ATXN7	6314	broad.mit.edu	37	chr3	63965627	63965627	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atccagcaagccgcctttggCcgttcctcccacttcagtat	7	16	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:63965627C>T	ENST00000295900.6	+	6	1086	c.536C>T	c.(535-537)gCc>gTc	p.A179V	ATXN7_ENST00000398590.3_Missense_Mutation_p.A179V|ATXN7_ENST00000484332.1_Missense_Mutation_p.A34V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A179V|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000538065.1_Missense_Mutation_p.A179V	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	179	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCGCCTTTGGCCGTTCCTCCC	0.443																																						ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(535-537)gCc>gTc		ataxin 7							86	83	84					3																	63965627		1937	4154	6091	SO:0001583	missense	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63965627C>T	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.536C>T	3.37:g.63965627C>T	ENSP00000295900:p.Ala179Val					ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000484332.1_Missense_Mutation_p.A34V|ATXN7_ENST00000295900.6_Missense_Mutation_p.A179V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A179V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A179V	p.A179V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	6	1089	+		Prostate(884;0.0181)	179			Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	c.536C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935887	0.52972	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.76	2.88	0.33553	.	0.320067	0.33272	N	0.005081	T	0.19725	0.0474	N	0.22421	0.69	0.27381	N	0.955401	B;B;B;B	0.18166	0.026;0.026;0.023;0.013	B;B;B;B	0.20577	0.03;0.03;0.013;0.006	T	0.17623	-1.0363	10	0.72032	D	0.01	-1.6019	8.2048	0.31446	0.1278:0.738:0.0:0.1342	.	34;34;179;179	E9PHP9;B4E207;O15265-2;O15265	.;.;.;ATX7_HUMAN	V	179;179;179;179;34	ENSP00000381590:A179V;ENSP00000295900:A179V;ENSP00000420234:A179V;ENSP00000439585:A179V;ENSP00000428277:A34V	ENSP00000295900:A179V	A	+	2	0	ATXN7	63940667	0.973000	0.33851	0.935000	0.37517	0.708000	0.40852	2.074000	0.41529	0.798000	0.33994	0.655000	0.94253	GCC		0.443	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		5	366	0	0	0	1	0	5	366					T	63965627	C	T	63965627	3	4	103	1	0	0	0	0	1	0	0	0	1216	739	26	2	618	2	ATXN7	3	63965627	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	12534805	63965627	134056803	34	35245											
GATA2	2624	broad.mit.edu	37	chr3	128200783	128200783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccggctcttctggcgGccgactgggagggcaaggca	18	11	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:128200783G>A	ENST00000341105.2	-	5	1353	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.A341V|GATA2_ENST00000430265.2_Intron	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	341					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A341_G346del(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTTCTGGCGGCCGACTGGGA	0.667			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		1	Deletion - In frame(1)	p.A341_G346del(1)	haematopoietic_and_lymphoid_tissue(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1021-1023)gCc>gTc		GATA binding protein 2							76	62	67					3																	128200783		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200783G>A	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.1022C>T	3.37:g.128200783G>A	ENSP00000345681:p.Ala341Val					GATA2_ENST00000430265.2_Intron|GATA2_ENST00000487848.1_Missense_Mutation_p.A341V|GATA2_ENST00000489987.1_5'UTR	p.A341V	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	5	1353	-			341					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.1022C>T	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871747	0.91587	.	.	ENSG00000179348	ENST00000341105;ENST00000487848	D;D	0.97710	-4.5;-4.5	4.95	4.95	0.65309	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (1);	0.000000	0.85682	D	0.000000	D	0.97142	0.9066	L	0.31926	0.97	0.80722	D	1	P	0.50528	0.936	P	0.56434	0.798	D	0.97318	0.9942	10	0.42905	T	0.14	-6.4427	18.1809	0.89777	0.0:0.0:1.0:0.0	.	341	P23769	GATA2_HUMAN	V	341	ENSP00000345681:A341V;ENSP00000417074:A341V	ENSP00000345681:A341V	A	-	2	0	GATA2	129683473	1.000000	0.71417	0.857000	0.33713	0.977000	0.68977	9.778000	0.99011	2.271000	0.75665	0.591000	0.81541	GCC		0.667	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		4	161	0	0	0	1	0	4	161					A	128200783	G	A	128200783	3	1	103	1	0	0	0	0	1	0	0	0	6282	1203	42	2	428	2	GATA2	3	128200783	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	64235156	128200783	69821647	35	35246											
CCRL1	51554	broad.mit.edu	37	chr3	132319910	132319910	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgtgctactttatcacAgcaaggacactcatgaagat	11	8	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:132319910A>G	ENST00000249887.2	+	2	765	c.669A>G	c.(667-669)acA>acG	p.T223T	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	223					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.T223T(1)									ACTTTATCACAGCAAGGACAC	0.388																																						ENST00000249887.2																			1	Substitution - coding silent(1)	p.T223T(1)	endometrium(1)								c.(667-669)acA>acG		atypical chemokine receptor 4							82	81	81					3																	132319910		2203	4298	6501	SO:0001819	synonymous_variant	51554							g.chr3:132319910A>G	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.669A>G	3.37:g.132319910A>G						ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	p.T223T	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	765	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.669A>G	CCDS3075.1																																																																																				0.388	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		7	453	0	0	0	1	0	7	453					G	132319910	A	G	132319910	2	3	103	1	0	0	0	0	0	0	0	1	2958	175	7	4		4	CCRL1	3	132319910	Silent	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	4119127	132319910	65702520	36	35247											
SAMD7	344658	broad.mit.edu	37	chr3	169644499	169644499	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catgctccctgccggtgaccTgcattttcacagaagcaccc	8	16	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:169644499T>C	ENST00000428432.2	+	6	838	c.449T>C	c.(448-450)cTg>cCg	p.L150P	SAMD7_ENST00000335556.3_Missense_Mutation_p.L150P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	150										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)			GCCGGTGACCTGCATTTTCAC	0.592																																						ENST00000428432.2																			0				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						c.(448-450)cTg>cCg		sterile alpha motif domain containing 7							58	60	59					3																	169644499		2203	4300	6503	SO:0001583	missense	344658							g.chr3:169644499T>C	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.449T>C	3.37:g.169644499T>C	ENSP00000391299:p.Leu150Pro					SAMD7_ENST00000335556.3_Missense_Mutation_p.L150P	p.L150P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	838	+	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)		150						Missense_Mutation	SNP	ENST00000428432.2	37	c.449T>C	CCDS3209.1	.	.	.	.	.	.	.	.	.	.	T	9.381	1.072926	0.20147	.	.	ENSG00000187033	ENST00000428432;ENST00000335556	T;T	0.55588	0.51;0.51	6.16	3.76	0.43208	.	0.394431	0.24664	N	0.036603	T	0.35451	0.0932	N	0.21448	0.665	0.51012	D	0.999903	B	0.24533	0.105	B	0.20384	0.029	T	0.09058	-1.0692	10	0.40728	T	0.16	-0.459	8.2492	0.31706	0.1197:0.065:0.0:0.8154	.	150	Q7Z3H4	SAMD7_HUMAN	P	150	ENSP00000391299:L150P;ENSP00000334668:L150P	ENSP00000334668:L150P	L	+	2	0	SAMD7	171127193	1.000000	0.71417	0.997000	0.53966	0.051000	0.14879	3.078000	0.50096	0.541000	0.28827	0.528000	0.53228	CTG		0.592	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		44	246	0	0	0	1	0	44	246					C	169644499	T	C	169644499	3	2	103	1	0	0	0	0	1	0	0	0	13874	1580	55	4	463	4	SAMD7	3	169644499	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	37324589	169644499	28377931	37	35248											
NCEH1	57552	broad.mit.edu	37	chr3	172353825	172353825	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaaatactttgtggcccGtacaacatcatgaatttgct	8	9	1	1	rs149894663		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:172353825G>A	ENST00000475381.1	-	4	723	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	NCEH1_ENST00000538775.1_Missense_Mutation_p.R204W|NCEH1_ENST00000543711.1_Missense_Mutation_p.R31W|NCEH1_ENST00000273512.3_Missense_Mutation_p.R196W			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	164					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						TTTGTGGCCCGTACAACATCA	0.403																																						ENST00000475381.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(490-492)Cgg>Tgg		neutral cholesterol ester hydrolase 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	126	124	124		610,91,91,586	5.4	0.2	3	dbSNP_134	124	0,8600		0,0,4300	no	missense,missense,missense,missense	NCEH1	NM_001146276.1,NM_001146277.1,NM_001146278.1,NM_020792.4	101,101,101,101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	204/449,31/276,31/276,196/441	172353825	2,13004	2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172353825G>A	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.490C>T	3.37:g.172353825G>A	ENSP00000418571:p.Arg164Trp					NCEH1_ENST00000543711.1_Missense_Mutation_p.R31W|NCEH1_ENST00000538775.1_Missense_Mutation_p.R204W|NCEH1_ENST00000273512.3_Missense_Mutation_p.R196W	p.R164W			Q6PIU2	NCEH1_HUMAN			4	723	-			164					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.490C>T		.	.	.	.	.	.	.	.	.	.	G	14.95	2.687850	0.48097	4.54E-4	0.0	ENSG00000144959	ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.42	5.42	0.78866	Alpha/beta hydrolase fold-3 (1);	0.346259	0.31897	N	0.006894	T	0.24353	0.0590	M	0.69823	2.125	0.09310	N	1	D;D	0.65815	0.995;0.964	P;B	0.50708	0.648;0.417	T	0.18053	-1.0349	10	0.56958	D	0.05	-10.1766	10.8595	0.46819	0.0:0.1401:0.7147:0.1452	.	204;164	F5H7K4;Q6PIU2	.;NCEH1_HUMAN	W	164;204;196;31	ENSP00000418571:R164W;ENSP00000442464:R204W;ENSP00000273512:R196W;ENSP00000443227:R31W	ENSP00000273512:R196W	R	-	1	2	NCEH1	173836519	0.005000	0.15991	0.190000	0.23270	0.793000	0.44817	1.546000	0.36179	2.820000	0.97059	0.650000	0.86243	CGG		0.403	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		5	516	0	0	0	1	0	5	516					A	172353825	G	A	172353825	3	1	103	1	0	0	0	0	1	0	0	0	10257	1144	40	1	744	1	NCEH1	3	172353825	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	2709326	172353825	25668605	38	35249											
SH3TC1	54436	broad.mit.edu	37	chr4	8230216	8230216	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggaggccgtgcggcTgttctcgaggctgccccttg	14	15	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:8230216T>A	ENST00000245105.3	+	12	2862	c.2795T>A	c.(2794-2796)cTg>cAg	p.L932Q	SH3TC1_ENST00000539824.1_Missense_Mutation_p.L856Q	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	932										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCGTGCGGCTGTTCTCGAGG	0.706																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2566-2568)cTg>cAg		SH3 domain and tetratricopeptide repeats 1							23	28	26					4																	8230216		2200	4295	6495	SO:0001583	missense	54436						binding	g.chr4:8230216T>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2795T>A	4.37:g.8230216T>A	ENSP00000245105:p.Leu932Gln					SH3TC1_ENST00000245105.3_Missense_Mutation_p.L932Q	p.L856Q			Q8TE82	S3TC1_HUMAN			12	2941	+			932					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.2567T>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	T	13.09	2.134594	0.37630	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.69306	-0.39;-0.39	4.63	3.4	0.38934	Tetratricopeptide-like helical (1);	0.234828	0.36303	N	0.002670	T	0.79575	0.4469	M	0.78049	2.395	0.44485	D	0.997427	D	0.89917	1.0	D	0.77557	0.99	T	0.79694	-0.1696	10	0.87932	D	0	-16.7905	10.304	0.43670	0.1479:0.0:0.0:0.8521	.	932	Q8TE82	S3TC1_HUMAN	Q	670;932;856;761	ENSP00000245105:L932Q;ENSP00000441045:L856Q	ENSP00000245105:L932Q	L	+	2	0	SH3TC1	8281116	1.000000	0.71417	0.885000	0.34714	0.007000	0.05969	7.019000	0.76412	0.585000	0.29608	0.459000	0.35465	CTG		0.706	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		22	132	0	0	0	1	0	22	132					A	8230216	T	A	8230216	3	1	103	1	0	0	0	0	1	0	0	0	14311	1580	55	5	2837	5	SH3TC1	4	8230216	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08		8230216	182924060	39	35250											
TAPT1	202018	broad.mit.edu	37	chr4	16189980	16189981	+	Splice_Site	INS	-	-	A													aaacagacgatcagctacctINSaaaaaaaaaaattatttgta							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1						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						ATCAGCTACCTAAAAAAAAAAA	0.317																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.e5-2		transmembrane anterior posterior transformation 1																																				SO:0001630	splice_region_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16189980_16189981insA	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.613-2->T	4.37:g.16189991_16189991dupA						TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site		NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			5	696	-								Q8N2S3|Q9NZK9	Splice_Site	INS	ENST00000405303.2	37		CCDS47030.1																																																																																				0.317	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365	Intron	7	91						7	91	---	---	---	---	A	16189981	-	A	16189980	8	5	103	1	0	1	1	0	0	0	1	0	15606	1536	53	0	1132	0	TAPT1	4	16189980	Splice_Site	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	7959764	16189980	174964296	40	35251											
FRAS1	80144	broad.mit.edu	37	chr4	79396679	79396679	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgccatcgtcctgtgtcgCaccgagcaaggcaccgccag	11	15	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:79396679C>T	ENST00000264895.6	+	54	8210	c.7770C>T	c.(7768-7770)cgC>cgT	p.R2590R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2590	Calx-beta 1.				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						TCCTGTGTCGCACCGAGCAAG	0.582																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(7768-7770)cgC>cgT		Fraser syndrome 1							109	120	117					4																	79396679		2106	4229	6335	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79396679C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7770C>T	4.37:g.79396679C>T							p.R2590R	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			54	8210	+			2589			Calx-beta 1.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.7770C>T	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	1.648	-0.514788	0.04200	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.44	0.23	0.15372	.	.	.	.	.	T	0.41534	0.1163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	.	1.4158	0.02301	0.2395:0.4251:0.1163:0.219	.	.	.	.	Y	819	.	.	H	+	1	0	FRAS1	79615703	0.998000	0.40836	0.409000	0.26459	0.132000	0.20833	0.632000	0.24583	-0.322000	0.08615	-0.194000	0.12790	CAC		0.582	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	281	0	0	0	1	0	5	281					T	79396679	C	T	79396679	2	4	103	1	0	0	0	0	0	0	0	1	6069	697	25	2		2	FRAS1	4	79396679	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	63206699	79396679	111757597	41	35252											
WDFY3	23001	broad.mit.edu	37	chr4	85678099	85678099	+	Frame_Shift_Del	DEL	G	G	-													ctggcaaccctgcttactccGgcagctgatgacaggcacac					rs138292353		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:85678099delG	ENST00000295888.4	-	33	5811	c.5404delC	c.(5404-5406)cggfs	p.R1802fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.R1802fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1802					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)		TGCTTACTCCGGCAGCTGATG	0.488																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5404-5406)ggfs		WD repeat and FYVE domain containing 3							121	125	123					4																	85678099		2203	4300	6503	SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85678099delG	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.5404delC	4.37:g.85678099delG	ENSP00000295888:p.Arg1802fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.R1802fs	p.R1802fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	33	5811	-		Hepatocellular(203;0.114)	1802					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.5404delC	CCDS3609.1																																																																																				0.488	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		91	850						91	850	---	---	---	---	-	85678099	G	-	85678099	7	5	103	1	0	1	0	1	0	0	0	0	17324	1115	39	0	5320	0	WDFY3	4	85678099	Frame_Shift_Del	DEL	G	TCGA-LB-A8F3-01A-11D-A36O-08	6281420	85678099	105476177	42	35253											
MFSD8	256471	broad.mit.edu	37	chr4	128861111	128861112	+	Frame_Shift_Ins	INS	-	-	CA													agtttaatcacatcccatgtINScacacctttttctccaagga							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:128861111_128861112insCA	ENST00000296468.3	-	7	721_722	c.594_595insTG	c.(592-597)gtgacafs	p.T199fs	MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.T154fs	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	199					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						ACATCCCATGTCACACCTTTTT	0.307																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(592-597)gtcatgfs		major facilitator superfamily domain containing 8																																				SO:0001589	frameshift_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128861111_128861112insCA	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.593_594dupTG	4.37:g.128861114_128861115dupCA	ENSP00000296468:p.Thr199fs					MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.M154fs|MFSD8_ENST00000515130.1_5'UTR	p.M199fs	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			7	721_722	-			199					B2RDM1|B7Z205|Q8N2P3	Frame_Shift_Ins	INS	ENST00000296468.3	37	c.594_595insTG	CCDS3736.1																																																																																				0.307	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		42	695						42	695	---	---	---	---	CA	128861112	-	CA	128861111	7	5	103	1	0	1	1	0	0	0	0	0	9579	1667	58	0	989	0	MFSD8	4	128861111	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	43183012	128861111	62293165	43	35254											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		8	400						8	400	---	---	---	---	-	146077125	CAG	-	146077123	7	5	103	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-LB-A8F3-01A-11D-A36O-08	17216012	146077123	45077153	44	35255											
CPE	1363	broad.mit.edu	37	chr4	166418761	166418761	+	Nonstop_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaactttaaatttttAaaaaggcttctagttagctg	7	5	2	1	rs34858186		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:166418761A>T	ENST00000402744.4	+	9	1710	c.1430A>T	c.(1429-1431)tAa>tTa	p.*477L		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	0					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTAAATTTTTAAAAAGGCTTC	0.299																																						ENST00000402744.4																			0				endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1429-1431)tAa>tTa		carboxypeptidase E	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						48	51	50					4																	166418761		2201	4292	6493	SO:0001578	stop_lost	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166418761A>T	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"carboxypeptidase H", "enkephalin convertase", "insulin granule-associated carboxypeptidase", "cobalt-stimulated chromaffin granule carboxypeptidase"	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.1430A>T	4.37:g.166418761A>T	ENSP00000386104:p.*477Leuext*4						p.*477L	NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	9	1710	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	0					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Nonstop_Mutation	SNP	ENST00000402744.4	37	c.1430A>T	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808900	0.31961	.	.	ENSG00000109472	ENST00000402744	.	.	.	5.76	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.884	0.35392	0.8565:0.0:0.1435:0.0	.	.	.	.	L	477	.	.	X	+	2	2	CPE	166638211	1.000000	0.71417	0.896000	0.35187	0.550000	0.35303	3.556000	0.53734	1.019000	0.39547	-0.250000	0.11733	TAA		0.299	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		37	114	0	0	0	1	0	37	114					T	166418761	A	T	166418761	4	4	103	1	0	0	0	0	0	0	0	0	3808	369	13	5	1464	5	CPE	4	166418761	Nonstop_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	20341638	166418761	24735515	45	35256											
TRIML2	205860	broad.mit.edu	37	chr4	189018255	189018255	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgagtcctcttatgtgGcataaactcaggtctgtgat	10	9	3	2	rs144128750		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:189018255G>A	ENST00000512729.1	-	6	929	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIML2_ENST00000326754.3_Silent_p.C210C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	185	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493																																						ENST00000512729.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(553-555)tgC>tgT		tripartite motif family-like 2		G		0,4406		0,0,2203	143	134	137		555	1.8	0	4	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRIML2	NM_173553.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		185/388	189018255	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189018255G>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.555C>T	4.37:g.189018255G>A						TRIML2_ENST00000326754.3_Silent_p.C210C	p.C185C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	6	929	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	185			B30.2/SPRY.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.555C>T	CCDS3850.1																																																																																				0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		5	568	0	0	0	1	0	5	568					A	189018255	G	A	189018255	2	1	103	1	0	0	0	0	0	0	0	1	16604	1195	42	2		2	TRIML2	4	189018255	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	22599494	189018255	2136021	46	35257											
SLC6A19	340024	broad.mit.edu	37	chr5	1201792	1201792	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctcgtgctgcccaacccCggcctagacgcccggatccc	11	19	0	1	rs370311234		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:1201792C>T	ENST00000304460.10	+	1	83	c.27C>T	c.(25-27)ccC>ccT	p.P9P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	9					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)			TGCCCAACCCCGGCCTAGACG	0.697																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(25-27)ccC>ccT		solute carrier family 6 (neutral amino acid transporter), member 19		C		0,4384		0,0,2192	25	26	25		27	-8	0.5	5		25	2,8590		0,2,4294	no	coding-synonymous	SLC6A19	NM_001003841.2		0,2,6486	TT,TC,CC		0.0233,0.0,0.0154		9/635	1201792	2,12974	2192	4296	6488	SO:0001819	synonymous_variant	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1201792C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.27C>T	5.37:g.1201792C>T							p.P9P	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	83	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		9					A8K446	Silent	SNP	ENST00000304460.10	37	c.27C>T	CCDS34130.1																																																																																				0.697	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		8	74	0	0	0	1	0	8	74					T	1201792	C	T	1201792	2	4	103	1	0	0	0	0	0	0	0	1	14732	639	23	1		1	SLC6A19	5	1201792	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		1201792	179713468	47	35258											
TAS2R1	50834	broad.mit.edu	37	chr5	9629850	9629850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacaatagaaaacgccgaGccatgtggcaagccaaagtt	11	10	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:9629850G>A	ENST00000382492.2	-	1	613	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	99					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAAACGCCGAGCCATGTGGCA	0.433																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(295-297)Ctc>Ttc		taste receptor, type 2, member 1							31	33	32					5																	9629850		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629850G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.295C>T	5.37:g.9629850G>A	ENSP00000371932:p.Leu99Phe					CTD-2001E22.1_ENST00000504182.2_RNA	p.L99F	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	613	-			99					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.295C>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185783	0.78789	.	.	ENSG00000169777	ENST00000382492	T	0.02216	4.39	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000004	T	0.14917	0.0360	M	0.84773	2.715	0.48135	D	0.999591	D	0.89917	1.0	D	0.97110	1.0	T	0.00059	-1.2166	9	.	.	.	.	16.5409	0.84384	0.0:0.0:1.0:0.0	.	99	Q9NYW7	TA2R1_HUMAN	F	99	ENSP00000371932:L99F	.	L	-	1	0	TAS2R1	9682850	1.000000	0.71417	0.995000	0.50966	0.692000	0.40212	6.136000	0.71703	2.767000	0.95098	0.655000	0.94253	CTC		0.433	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			6	174	0	0	0	1	0	6	174					A	9629850	G	A	9629850	3	1	103	1	0	0	0	0	1	0	0	0	15617	971	34	2	608	2	TAS2R1	5	9629850	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	8428058	9629850	171285410	48	35259											
CDH9	1007	broad.mit.edu	37	chr5	26890658	26890658	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacggtccatatcagtatgCcgatcaacagagtacctggc	9	11	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	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						TATCAGTATGCCGATCAACAG	0.388																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1267-1269)cgG>cgA		cadherin 9, type 2 (T1-cadherin)							85	86	86					5																	26890658		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26890658C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1269G>A	5.37:g.26890658C>T							p.R423R	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			8	1441	-			423			Cadherin 4.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1269G>A	CCDS3893.1																																																																																				0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		5	482	0	0	0	1	0	5	482					T	26890658	C	T	26890658	2	4	103	1	0	0	0	0	0	0	0	1	3126	726	26	2		2	CDH9	5	26890658	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	17260808	26890658	154024602	49	35260											
ACTBL2	345651	broad.mit.edu	37	chr5	56778497	56778497	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcacatccctgacccaTtatccactaccaaggcagac	5	17	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:56778497T>C	ENST00000423391.1	-	1	139	c.38A>G	c.(37-39)aAt>aGt	p.N13S	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	13						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)		CCCTGACCCATTATCCACTAC	0.542																																						ENST00000423391.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(37-39)aAt>aGt		actin, beta-like 2							80	59	66					5																	56778497		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778497T>C		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.38A>G	5.37:g.56778497T>C	ENSP00000416706:p.Asn13Ser					CTD-2023N9.1_ENST00000506106.1_RNA	p.N13S	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	139	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	13					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.38A>G	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949343	0.53186	.	.	ENSG00000169067	ENST00000423391	D	0.97665	-4.48	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000002	D	0.98040	0.9354	M	0.93854	3.465	0.49798	D	0.999821	B	0.26318	0.146	B	0.40741	0.339	D	0.98614	1.0664	10	0.87932	D	0	.	12.977	0.58542	0.0:0.0:0.0:1.0	.	13	Q562R1	ACTBL_HUMAN	S	13	ENSP00000416706:N13S	ENSP00000416706:N13S	N	-	2	0	ACTBL2	56814254	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.054000	0.71096	2.156000	0.67533	0.460000	0.39030	AAT		0.542	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		18	148	0	0	0	1	0	18	148					C	56778497	T	C	56778497	3	2	103	1	0	0	0	0	1	0	0	0	194	1493	52	4	1096	4	ACTBL2	5	56778497	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	29887839	56778497	124136763	50	35261											
AP3B1	8546	broad.mit.edu	37	chr5	77334906	77334907	+	Frame_Shift_Ins	INS	-	-	T													attttcatgcctataggaagINSttttttttcccctatgtgga					rs201179527	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:77334906_77334907insT	ENST00000255194.6	-	23	2944_2945	c.2769_2770insA	c.(2767-2772)aaacttfs	p.L924fs	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Frame_Shift_Ins_p.L875fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	924					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)	p.K923fs*4(1)		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)		CCTATAGGAAGTTTTTTTTCCC	0.287									Hermansky-Pudlak syndrome																													ENST00000255194.6																			1	Deletion - Frameshift(1)	p.K923fs*4(1)	large_intestine(1)	breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(2767-2772)aattccfs		adaptor-related protein complex 3, beta 1 subunit																																				SO:0001589	frameshift_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77334906_77334907insT	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.2770dupA	5.37:g.77334914_77334914dupT	ENSP00000255194:p.Leu924fs					AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Frame_Shift_Ins_p.NS874fs	p.NS923fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	23	2944_2945	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	923					E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Ins	INS	ENST00000255194.6	37	c.2769_2770insA	CCDS4041.1																																																																																				0.287	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			7	427						7	427	---	---	---	---	T	77334907	-	T	77334906	7	5	103	1	0	1	1	0	0	0	0	0	744	1029	36	0	534	0	AP3B1	5	77334906	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	20556409	77334906	103580354	51	35262											
GPR98	84059	broad.mit.edu	37	chr5	89979973	89979973	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtctttatcgaactaCtcaactctactttagtagcg	5	10	4	0	rs529727564		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:89979973C>T	ENST00000405460.2	+	28	6331	c.6235C>T	c.(6235-6237)Ctc>Ttc	p.L2079F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2079	Calx-beta 14. {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)		TATCGAACTACTCAACTCTAC	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		15557	0.0		0.0	False		,,,				2504	0.001					ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(6235-6237)Ctc>Ttc		G protein-coupled receptor 98							59	55	56					5																	89979973		1857	4098	5955	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979973C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6235C>T	5.37:g.89979973C>T	ENSP00000384582:p.Leu2079Phe						p.L2079F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6331	+		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)	2079					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6235C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	6.792	0.515177	0.12944	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28069	1.63	5.71	1.34	0.21922	Na-Ca exchanger/integrin-beta4 (1);	0.425070	0.27821	N	0.017719	T	0.13756	0.0333	N	0.16307	0.4	0.42111	D	0.991388	B	0.20368	0.044	B	0.24006	0.05	T	0.10382	-1.0632	10	0.13853	T	0.58	.	3.4706	0.07566	0.1498:0.5324:0.0958:0.2221	.	2079	Q8WXG9	GPR98_HUMAN	F	2079	ENSP00000384582:L2079F	ENSP00000296619:L2079F	L	+	1	0	GPR98	90015729	0.004000	0.15560	0.946000	0.38457	0.893000	0.52053	0.320000	0.19540	0.319000	0.23209	0.591000	0.81541	CTC		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		20	143	0	0	0	1	0	20	143					T	89979973	C	T	89979973	3	4	103	1	0	0	0	0	1	0	0	0	6751	565	20	2	6345	2	GPR98	5	89979973	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	12645067	89979973	90935287	52	35263											
DIAPH1	1729	broad.mit.edu	37	chr5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagcagaggcatatcccGcaagcctgacctcaactcct	9	15	1	3	rs534491046		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:140963116G>A	ENST00000398557.4	-	5	609	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_ENST00000253811.6_Missense_Mutation_p.R157W|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	157	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(469-471)Cgg>Tgg		diaphanous-related formin 1							108	111	110					5																	140963116		2014	4200	6214	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140963116G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.469C>T	5.37:g.140963116G>A	ENSP00000381565:p.Arg157Trp					DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W	p.R157W			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	609	-			157			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.469C>T	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834334	0.71373	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047;ENST00000524301	D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.56	3.57	0.40892	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.171760	0.32836	N	0.005598	D	0.88916	0.6567	L	0.44542	1.39	0.35503	D	0.799987	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.965	D	0.91005	0.4845	10	0.66056	D	0.02	.	9.3401	0.38074	0.0:0.1161:0.5492:0.3347	.	148;157	E9PEZ2;O60610	.;DIAP1_HUMAN	W	157;103;148;148;148;157;157;148;103	ENSP00000373706:R157W;ENSP00000429282:R103W;ENSP00000381570:R148W;ENSP00000373709:R148W;ENSP00000381572:R148W;ENSP00000381565:R157W;ENSP00000253811:R157W;ENSP00000428268:R148W;ENSP00000430587:R103W	ENSP00000253811:R157W	R	-	1	2	DIAPH1	140943300	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.957000	0.29215	1.340000	0.45581	0.460000	0.39030	CGG		0.512	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		6	732	0	0	0	1	0	6	732					A	140963116	G	A	140963116	3	1	103	1	0	0	0	0	1	0	0	0	4534	1086	38	1	3445	1	DIAPH1	5	140963116	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	50983143	140963116	39952144	53	35264											
ZNF184	7738	broad.mit.edu	37	chr6	27419236	27419236	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtctttctgcattcaTtacagttataaggtttctct	5	7	4	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27419236T>A	ENST00000211936.6	-	6	2386	c.2102A>T	c.(2101-2103)aAt>aTt	p.N701I	ZNF184_ENST00000377419.1_Missense_Mutation_p.N701I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	701					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						TCTGCATTCATTACAGTTATA	0.403																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(2101-2103)aAt>aTt		zinc finger protein 184							139	144	142					6																	27419236		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419236T>A	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.2102A>T	6.37:g.27419236T>A	ENSP00000211936:p.Asn701Ile					ZNF184_ENST00000377419.1_Missense_Mutation_p.N701I	p.N701I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2386	-			701					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.2102A>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349106	0.24426	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07567	3.18;3.18	5.18	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.646540	0.03257	N	0.182648	T	0.03263	0.0095	L	0.51914	1.62	0.09310	N	1	B	0.26845	0.161	B	0.33392	0.163	T	0.45220	-0.9276	10	0.45353	T	0.12	.	5.6461	0.17590	0.0:0.2477:0.4327:0.3196	.	701	Q99676	ZN184_HUMAN	I	701;701;617	ENSP00000211936:N701I;ENSP00000366636:N701I	ENSP00000211936:N701I	N	-	2	0	ZNF184	27527215	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-2.952000	0.00677	-0.409000	0.07553	0.482000	0.46254	AAT		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		5	600	0	0	0	1	0	5	600					A	27419236	T	A	27419236	3	1	103	1	0	0	0	0	1	0	0	0	17804	1493	52	5	157	5	ZNF184	6	27419236	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08		27419236	143695831	54	35265											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagtccaccccgacaccgGcatctcatcgaaggccatgg	10	16	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCGACACCGGCATCTCATCG	0.557																																						ENST00000303806.4																			0											c.(160-162)gGc>gAc		histone cluster 1, H2bo							161	145	151					6																	27861401		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861401G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.161G>A	6.37:g.27861401G>A	ENSP00000303408:p.Gly54Asp						p.G54D	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	199	+			54					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.161G>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		0.557	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		6	786	0	0	0	1	0	6	786					A	27861401	G	A	27861401	3	1	103	1	0	0	0	0	1	0	0	0	7184	1203	42	2	163	2	HIST1H2BO	6	27861401	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	442165	27861401	143253666	55	35266											
OR10C1	442194	broad.mit.edu	37	chr6	29408448	29408448	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcctgggctcctacgggcGtatcctcgttaccatcttcc	8	16	1	0	rs74711365		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:29408448G>A	ENST00000444197.2	+	1	1366	c.656G>A	c.(655-657)cGt>cAt	p.R219H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		18522	0.0		0.001	False		,,,				2504	0.0					ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(655-657)cGt>cAt		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							201	215	210					6																	29408448		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408448G>A		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.656G>A	6.37:g.29408448G>A	ENSP00000419119:p.Arg219His					OR11A1_ENST00000377149.1_Intron	p.R219H	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1366	+			219					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.656G>A	CCDS34364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	2.237	-0.374776	0.05034	.	.	ENSG00000206474	ENST00000444197	T	0.00107	8.72	3.49	-0.39	0.12450	GPCR, rhodopsin-like superfamily (1);	1.341410	0.05509	N	0.559845	T	0.00039	0.0001	L	0.28458	0.855	0.09310	N	1	B	0.16802	0.019	B	0.20955	0.032	T	0.05767	-1.0865	10	0.33141	T	0.24	.	3.7393	0.08523	0.5714:0.0:0.2392:0.1894	.	219	Q96KK4	O10C1_HUMAN	H	219	ENSP00000419119:R219H	ENSP00000419119:R219H	R	+	2	0	OR10C1	29516427	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.281000	0.01157	-0.067000	0.12976	-0.199000	0.12753	CGT		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			7	866	0	0	0	1	0	7	866					A	29408448	G	A	29408448	3	1	103	1	0	0	0	0	1	0	0	0	10940	1145	40	1	658	1	OR10C1	6	29408448	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1547047	29408448	141706619	56	35267											
CUL9	23113	broad.mit.edu	37	chr6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagactgaacagggttttgCgccacgagcagaattttgct	11	10	0	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C|CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					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						CAGGGTTTTGCGCCACGAGCA	0.582																																						ENST00000252050.4																			0				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						c.(4042-4044)Cgc>Tgc		cullin 9							168	160	163					6																	43171608		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43171608C>T	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.4042C>T	6.37:g.43171608C>T	ENSP00000252050:p.Arg1348Cys					CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			20	4126	+			1348					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.4042C>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076813	0.76415	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.75477	-0.94;-0.94;-0.82	5.37	4.44	0.53790	.	0.534882	0.21714	N	0.070239	T	0.77198	0.4095	L	0.52573	1.65	0.48341	D	0.999639	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.983;0.99;0.99	T	0.78828	-0.2050	10	0.87932	D	0	-24.8198	10.945	0.47296	0.1444:0.7162:0.1394:0.0	.	1238;1348;1348	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1348;1238;1348	ENSP00000252050:R1348C;ENSP00000346490:R1238C;ENSP00000361730:R1348C	ENSP00000252050:R1348C	R	+	1	0	CUL9	43279586	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.185000	0.42584	2.659000	0.90383	0.655000	0.94253	CGC		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		8	1075	0	0	0	1	0	8	1075					T	43171608	C	T	43171608	3	4	103	1	0	0	0	0	1	0	0	0	4072	768	27	1	4116	1	CUL9	6	43171608	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	13763160	43171608	127943459	57	35268											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	94	0	0	0	1	0	5	94					A	45390463	G	A	45390463	2	1	103	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	2218855	45390463	125724604	58	35269	221	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RP1-244F24.1_ENST00000606796.1_RNA	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	93	0	0	0	1	0	5	93					G	45390466	A	G	45390466	2	3	103	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	3	45390466	125724601	59	35270	221	2									
ASCC3	10973	broad.mit.edu	37	chr6	101248245	101248245	+	Frame_Shift_Del	DEL	T	T	-													cttctaaatcttctccagccTttttttctcgtctggcaatt							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:101248245delT	ENST00000369162.2	-	6	1402	c.1058delA	c.(1057-1059)aagfs	p.K353fs	ASCC3_ENST00000522650.1_Frame_Shift_Del_p.K353fs	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	353					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)		TTCTCCAGCCTTTTTTTCTCG	0.373																																						ENST00000369162.2																			0				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						c.(1057-1059)agfs		activating signal cointegrator 1 complex subunit 3							173	162	166					6																	101248245		2202	4300	6502	SO:0001589	frameshift_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101248245delT	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.1058delA	6.37:g.101248245delT	ENSP00000358159:p.Lys353fs					ASCC3_ENST00000522650.1_Frame_Shift_Del_p.K353fs	p.K353fs	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	6	1402	-		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)	353					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Frame_Shift_Del	DEL	ENST00000369162.2	37	c.1058delA	CCDS5046.1																																																																																				0.373	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		7	717						7	717	---	---	---	---	-	101248245	T	-	101248245	7	5	103	1	0	1	0	1	0	0	0	0	1034	1609	56	0	5698	0	ASCC3	6	101248245	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08	55857779	101248245	69866822	60	35271											
CCDC28A	25901	broad.mit.edu	37	chr6	139101019	139101019	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaaggcgctcagtcaactccGatccagcactccttcctcac	6	17	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:139101019G>A	ENST00000332797.6	+	3	644	c.489G>A	c.(487-489)ccG>ccA	p.P163P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	163										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGTCAACTCCGATCCAGCACT	0.453																																						ENST00000332797.6																			0				autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(487-489)ccG>ccA		coiled-coil domain containing 28A							125	114	118					6																	139101019		2203	4300	6503	SO:0001819	synonymous_variant	25901							g.chr6:139101019G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.489G>A	6.37:g.139101019G>A							p.P163P	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	3	644	+			163					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Silent	SNP	ENST00000332797.6	37	c.489G>A	CCDS5192.1																																																																																				0.453	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		5	445	0	0	0	1	0	5	445					A	139101019	G	A	139101019	2	1	103	1	0	0	0	0	0	0	0	1	2809	1045	37	1		1	CCDC28A	6	139101019	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	37852774	139101019	32014048	61	35272											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1	rs377381152		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		8	567	0	0	0	1	0	8	567					A	150715311	G	A	150715311	3	1	103	1	0	0	0	0	1	0	0	0	7962	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	11614292	150715311	20399756	62	35273											
PHF14	9678	broad.mit.edu	37	chr7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-													tattgtaaaatgtctttgcaAgagagagagaagcaactatc							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagagfs	p.E524fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.E239fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	524					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)		TGTCTTTGCAAGAGAGAGAGAA	0.376																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1567-1572)caagfs		PHD finger protein 14																																				SO:0001589	frameshift_variant	9678						zinc ion binding	g.chr7:11075380_11075381delAG	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.1569_1570delAG	7.37:g.11075388_11075389delAG	ENSP00000385795:p.Glu524fs					PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	p.QE523fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	2021_2022	+			523					A7MCZ3|B4DI82	Frame_Shift_Del	DEL	ENST00000403050.3	37	c.1569_1570delAG	CCDS47542.1																																																																																				0.376	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		8	859						8	859	---	---	---	---	-	11075381	AG	-	11075380	7	5	103	1	0	1	0	1	0	0	0	0	11867	69	3	0	1599	0	PHF14	7	11075380	Frame_Shift_Del	DEL	AG	TCGA-LB-A8F3-01A-11D-A36O-08		11075380	148063283	63	35274											
SP4	6671	broad.mit.edu	37	chr7	21469543	21469544	+	Frame_Shift_Ins	INS	-	-	T													tggtactcaggctcaagttgINStaacaaccctaccaattaac							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:21469543_21469544insT	ENST00000222584.3	+	3	978_979	c.760_761insT	c.(760-762)gtafs	p.V254fs		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	254					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						GGCTCAAGTTGTAACAACCCTA	0.5																																						ENST00000222584.3																			0				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						c.(760-762)aacfs		Sp4 transcription factor																																				SO:0001589	frameshift_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469543_21469544insT		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.761dupT	7.37:g.21469544_21469544dupT	ENSP00000222584:p.Val254fs						p.N254fs	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	978_979	+			254					O60402|Q32M52	Frame_Shift_Ins	INS	ENST00000222584.3	37	c.760_761insT	CCDS5373.1																																																																																				0.5	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		55	312						55	312	---	---	---	---	T	21469544	-	T	21469543	7	5	103	1	0	1	1	0	0	0	0	0	15016	1377	48	0	770	0	SP4	7	21469543	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	10394163	21469543	137669120	64	35275											
HOXA1	3198	broad.mit.edu	37	chr7	27135317	27135319	+	In_Frame_Del	DEL	TGG	TGG	-													tagccggctgggggtggcgaTggtggtggtggtggtggtgg					rs2074398|rs587777901|rs544314279	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:27135317_27135319delTGG	ENST00000343060.4	-	1	274_276	c.213_215delCCA	c.(211-216)caccat>cat	p.71_72HH>H	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_In_Frame_Del_p.71_72HH>H|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						ggggtggcgatggtggtggtggt	0.64											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(211-216)cat>ca		homeobox A1																																				SO:0001651	inframe_deletion	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135317_27135319delTGG		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.213_215delCCA	7.37:g.27135326_27135328delTGG	ENSP00000343246:p.His72del		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del|HOTAIRM1_ENST00000495032.1_RNA	p.HH71del	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	274_276	-			71			Poly-His.		A4D184|B2R8U7|O43363	In_Frame_Del	DEL	ENST00000343060.4	37	c.213_215delCCA	CCDS5401.1																																																																																				0.64	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			10	269						10	269	---	---	---	---	-	27135319	TGG	-	27135317	7	5	103	1	0	1	0	1	0	0	0	0	7318	1464	51	0	800	0	HOXA1	7	27135317	In_Frame_Del	DEL	TGG	TCGA-LB-A8F3-01A-11D-A36O-08	5665774	27135317	132003346	65	35276											
TYW1B	441250	broad.mit.edu	37	chr7	72277910	72277910	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgactcatcacacgatgcaCgccaagcatccagagccact	7	16	2	1	rs535173722		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:72277910C>T	ENST00000435769.2	-	0	594				TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										ACACGATGCACGCCAAGCATC	0.498													.|||	1	0.000199681	0.0	0.0	5008	,	,		20389	0.0		0.0	False		,,,				2504	0.001					ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							75	61	65					7																	72277910		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72277910C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"radical S-adenosyl methionine and flavodoxin domains 1", "non-protein coding RNA 69", "long intergenic non-protein coding RNA 69"		"tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72277910C>T										Q6NUM6	TYW1B_HUMAN			0	336	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		14	245	0	0	0	1	0	14	245					T	72277910	C	T	72277910	1	4	103	0	1	0	0	0	0	0	0	0	16873	536	19	1		1	TYW1B	7	72277910	RNA	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	45142593	72277910	86860753	66	35277											
WBSCR28	135886	broad.mit.edu	37	chr7	73279489	73279489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaggctctctgggctgGgctggctctgatacaggtcc	16	12	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:73279489G>A	ENST00000320531.2	+	2	275	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	80						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCTGGGCTGGGCTGGCTCTG	0.697																																						ENST00000320531.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(238-240)gGg>gAg		Williams-Beuren syndrome chromosome region 28							47	53	51					7																	73279489		1913	4115	6028	SO:0001583	missense	135886					integral to membrane		g.chr7:73279489G>A	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.239G>A	7.37:g.73279489G>A	ENSP00000316775:p.Gly80Glu						p.G80E	NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN			2	275	+		Lung NSC(55;0.159)	80					Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.239G>A	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755009	0.49362	.	.	ENSG00000175877	ENST00000320531	T	0.36699	1.24	4.63	2.63	0.31362	.	0.340255	0.21598	N	0.071982	T	0.45458	0.1343	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.16600	-1.0397	10	0.87932	D	0	-14.5081	9.5408	0.39251	0.0:0.0:0.622:0.378	.	80	Q6UE05	WBS28_HUMAN	E	80	ENSP00000316775:G80E	ENSP00000316775:G80E	G	+	2	0	WBSCR28	72917425	0.201000	0.23410	0.191000	0.23289	0.093000	0.18481	1.085000	0.30840	1.121000	0.41925	0.650000	0.86243	GGG		0.697	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		58	452	0	0	0	1	0	58	452					A	73279489	G	A	73279489	3	1	103	1	0	0	0	0	1	0	0	0	17321	1232	43	2	245	2	WBSCR28	7	73279489	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1001579	73279489	85859174	67	35278											
ZSCAN21	7589	broad.mit.edu	37	chr7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcttcagtcagcatgCgggcctcagctcccaccaga	11	14	3	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1201-1203)gCg>gTg		zinc finger and SCAN domain containing 21							87	82	84					7																	99662020		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99662020C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1202C>T	7.37:g.99662020C>T	ENSP00000292450:p.Ala401Val					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR	p.A401V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1366	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		401					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.1202C>T	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.269217|3.269217	0.59540|0.59540	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.01068|0.02236	5.38|4.38;4.38	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.41823|.	D|.	0.000813|.	T|T	0.03136|0.03136	0.0092|0.0092	L|L	0.31420|0.31420	0.93|0.93	0.80722|0.80722	D|D	1|1	D|D	0.71674|0.63880	0.998|0.993	B|P	0.42030|0.47705	0.373|0.555	T|T	0.54009|0.54009	-0.8357|-0.8357	10|9	0.87932|0.87932	D|D	0|0	.|.	10.2257|10.2257	0.43225|0.43225	0.1979:0.8021:0.0:0.0|0.1979:0.8021:0.0:0.0	.|.	401|367	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	V|W	401;376|367	ENSP00000292450:A401V|ENSP00000441212:R367W;ENSP00000390960:R367W	ENSP00000292450:A401V|ENSP00000390960:R367W	A|R	+|+	2|1	0|2	ZSCAN21|ZSCAN21	99499956|99499956	0.000000|0.000000	0.05858|0.05858	0.954000|0.954000	0.39281|0.39281	0.389000|0.389000	0.30415|0.30415	0.403000|0.403000	0.20982|0.20982	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.522	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		5	345	0	0	0	1	0	5	345					T	99662020	C	T	99662020	3	4	103	1	0	0	0	0	1	0	0	0	18286	768	27	1	1212	1	ZSCAN21	7	99662020	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	26382531	99662020	59476643	68	35279											
LRRN3	54674	broad.mit.edu	37	chr7	110763403	110763403	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttccaaatctagagaTtctgatgattggggaaaatc	9	7	3	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:110763403T>C	ENST00000422987.3	+	2	1406	c.575T>C	c.(574-576)aTt>aCt	p.I192T	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.I192T|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.I192T|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	192					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)		AATCTAGAGATTCTGATGATT	0.373																																						ENST00000451085.1																			0				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						c.(574-576)aTt>aCt		leucine rich repeat neuronal 3							65	68	67					7																	110763403		2203	4299	6502	SO:0001583	missense	54674					integral to membrane		g.chr7:110763403T>C	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.575T>C	7.37:g.110763403T>C	ENSP00000412417:p.Ile192Thr					LRRN3_ENST00000422987.3_Missense_Mutation_p.I192T|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.I192T|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron	p.I192T	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		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)	4	1621	+			192					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.575T>C	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362159	0.61403	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.23348	1.91;1.91;1.91;4.37	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000013	T	0.35653	0.0939	L	0.55017	1.72	0.58432	D	0.999999	D	0.56968	0.978	P	0.51974	0.686	T	0.05666	-1.0871	10	0.15499	T	0.54	.	16.4075	0.83691	0.0:0.0:0.0:1.0	.	192	Q9H3W5	LRRN3_HUMAN	T	192	ENSP00000312001:I192T;ENSP00000397312:I192T;ENSP00000412417:I192T;ENSP00000407927:I192T	ENSP00000312001:I192T	I	+	2	0	LRRN3	110550639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.275000	0.75901	0.528000	0.53228	ATT		0.373	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		60	302	0	0	0	1	0	60	302					C	110763403	T	C	110763403	3	2	103	1	0	0	0	0	1	0	0	0	9074	1493	52	4	577	4	LRRN3	7	110763403	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	11101383	110763403	48375260	69	35280											
OR2A7	401427	broad.mit.edu	37	chr7	143956698	143956698	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccagtaggaggaactctgtGatggatgttatattgtcccc	11	9	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:143956698G>T	ENST00000493325.1	-	1	117	c.24C>A	c.(22-24)atC>atA	p.I8I	OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGAACTCTGTGATGGATGTTA	0.448																																						ENST00000493325.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6						c.(22-24)atC>atA		olfactory receptor, family 2, subfamily A, member 7							117	150	139					7																	143956698		2202	4300	6502	SO:0001819	synonymous_variant	401427				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143956698G>T		CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.24C>A	7.37:g.143956698G>T						RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA	p.I8I	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN			1	117	-	Melanoma(164;0.14)		8					B2RN57|Q6IFP4	Silent	SNP	ENST00000493325.1	37	c.24C>A	CCDS55177.1																																																																																				0.448	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349979.1			59	440	1	0	1.93748e-29	1	2.06067e-29	59	440					T	143956698	G	T	143956698	2	4	103	1	0	0	0	0	0	0	0	1	11024	1280	45	3		3	OR2A7	7	143956698	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	33193295	143956698	15181965	70	35281											
ADAM2	2515	broad.mit.edu	37	chr8	39626997	39626997	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttgaaaaaaggatctaagcGaggctgattgtgaagacact	11	5	1	4			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:39626997G>A	ENST00000265708.4	-	12	1229	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C|ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	376					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)		GGATCTAAGCGAGGCTGATTG	0.433																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1126-1128)Cgc>Tgc		ADAM metallopeptidase domain 2							154	136	142					8																	39626997		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39626997G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1126C>T	8.37:g.39626997G>A	ENSP00000265708:p.Arg376Cys					ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C|ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C	p.R376C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1229	-		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)	376					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1126C>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.134834	0.37728	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02258	4.99;4.37;5.23;5.19	5.11	3.29	0.37713	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.08044	0.0201	M	0.81802	2.56	0.09310	N	0.999999	P;D;D;P	0.69078	0.955;0.997;0.973;0.955	P;P;P;P	0.55667	0.608;0.649;0.781;0.608	T	0.18241	-1.0343	8	.	.	.	.	6.5366	0.22357	0.0932:0.0:0.7281:0.1787	.	376;250;357;376	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	C	357;250;376;376	ENSP00000343854:R357C;ENSP00000369182:R250C;ENSP00000265708:R376C;ENSP00000429352:R376C	.	R	-	1	0	ADAM2	39746154	0.001000	0.12720	0.048000	0.18961	0.292000	0.27327	0.361000	0.20267	0.635000	0.30488	0.650000	0.86243	CGC		0.433	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		11	215	0	0	0	1	0	11	215					A	39626997	G	A	39626997	3	1	103	1	0	0	0	0	1	0	0	0	241	1058	37	1	1117	1	ADAM2	8	39626997	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		39626997	106737025	71	35282											
SAMD12	401474	broad.mit.edu	37	chr8	119391680	119391680	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atctgtatactattttctatGatggaaattctgtgaagaaa	7	4	3	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:119391680G>A	ENST00000314727.4	-	4	718	c.582C>T	c.(580-582)atC>atT	p.I194I	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Intron|SAMD12_ENST00000527515.1_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	194										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TATTTTCTATGATGGAAATTC	0.368																																						ENST00000314727.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(580-582)atC>atT		sterile alpha motif domain containing 12							56	57	56					8																	119391680		2203	4300	6503	SO:0001819	synonymous_variant	401474							g.chr8:119391680G>A	AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"Sterile alpha motif (SAM) domain containing"	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.582C>T	8.37:g.119391680G>A						SAMD12_ENST00000527515.1_Intron|AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Intron	p.I194I	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	STAD - Stomach adenocarcinoma(47;0.00391)		4	718	-	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		194					Q0P502	Silent	SNP	ENST00000314727.4	37	c.582C>T	CCDS6325.1																																																																																				0.368	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506		5	234	0	0	0	1	0	5	234					A	119391680	G	A	119391680	2	1	103	1	0	0	0	0	0	0	0	1	13867	1280	45	2		2	SAMD12	8	119391680	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	79764683	119391680	26972342	72	35283											
CBWD1	55871	broad.mit.edu	37	chr9	164038	164038	+	Splice_Site	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaacatagaagccactgcacCtgaaaatatataatattcat	4	8	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	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)		GCCACTGCACCTGAAAATATA	0.284																																						ENST00000377447.3																			2	Unknown(2)	p.?(2)	lung(2)	kidney(1)|lung(2)|ovary(1)|skin(1)	5						c.e5-1		COBW domain containing 1							44	70	61					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site				Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	486	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37		CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	8	802	0	0	0	1	0	8	802					G	164038	C	G	164038	5	3	103	1	0	0	0	0	0	0	1	0	2719	695	24	5	801	5	CBWD1	9	164038	Splice_Site	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		164038	141049393	73	35284											
VLDLR	7436	broad.mit.edu	37	chr9	2641436	2641436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattctactcagtgtatcCcagtgtcctggagatgtgat	9	11	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:2641436C>T	ENST00000382100.3	+	4	741	c.385C>T	c.(385-387)Cca>Tca	p.P129S	VLDLR_ENST00000382099.2_Missense_Mutation_p.P129S|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	129	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCAGTGTATCCCAGTGTCCTG	0.433																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(385-387)Cca>Tca		very low density lipoprotein receptor							233	210	218					9																	2641436		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2641436C>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.385C>T	9.37:g.2641436C>T	ENSP00000371532:p.Pro129Ser					VLDLR_ENST00000382099.2_Missense_Mutation_p.P129S	p.P129S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	4	741	+			129			LDL-receptor class A 3.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.385C>T	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645424	0.67358	.	.	ENSG00000147852	ENST00000382100;ENST00000382099	D;D	0.95554	-3.74;-3.74	6.07	6.07	0.98685	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000066	D	0.96648	0.8906	L	0.50919	1.6	0.80722	D	1	B;B	0.33694	0.421;0.148	B;P	0.51055	0.429;0.657	D	0.95111	0.8238	10	0.49607	T	0.09	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	129;129	Q5VVF5;P98155	.;VLDLR_HUMAN	S	129	ENSP00000371532:P129S;ENSP00000371531:P129S	ENSP00000371531:P129S	P	+	1	0	VLDLR	2631436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.635000	0.61332	2.884000	0.98904	0.655000	0.94253	CCA		0.433	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		6	337	0	0	0	1	0	6	337					T	2641436	C	T	2641436	3	4	103	1	0	0	0	0	1	0	0	0	17228	623	22	2	399	2	VLDLR	9	2641436	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2477398	2641436	138571995	74	35285											
PRKACG	5568	broad.mit.edu	37	chr9	71628843	71628843	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccagcatcacccgccCgaaggagcccatgcccagcg	9	20	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:71628843C>T	ENST00000377276.2	-	1	196	c.166G>A	c.(166-168)Ggg>Agg	p.G56R		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCACCCGCCCGAAGGAGCCC	0.592																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(166-168)Ggg>Agg		protein kinase, cAMP-dependent, catalytic, gamma							108	97	101					9																	71628843		2203	4300	6503	SO:0001583	missense	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628843C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.166G>A	9.37:g.71628843C>T	ENSP00000366488:p.Gly56Arg						p.G56R	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	196	-			56			Protein kinase.		O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	c.166G>A	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877235	0.51801	.	.	ENSG00000165059	ENST00000377276	T	0.80738	-1.41	1.32	1.32	0.21799	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	0.31531	U	0.007486	D	0.92120	0.7502	H	0.98682	4.3	0.36255	D	0.854184	D	0.89917	1.0	D	0.87578	0.998	D	0.92260	0.5816	10	0.87932	D	0	.	8.1306	0.31024	0.0:1.0:0.0:0.0	.	56	P22612	KAPCG_HUMAN	R	56	ENSP00000366488:G56R	ENSP00000366488:G56R	G	-	1	0	PRKACG	70818663	0.004000	0.15560	0.002000	0.10522	0.002000	0.02628	1.488000	0.35551	0.687000	0.31509	0.563000	0.77884	GGG		0.592	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			7	267	0	0	0	1	0	7	267					T	71628843	C	T	71628843	3	4	103	1	0	0	0	0	1	0	0	0	12546	652	23	1	893	1	PRKACG	9	71628843	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	68987407	71628843	69584588	75	35286											
TRPM3	80036	broad.mit.edu	37	chr9	73461435	73461435	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agagatgagaagcttgggaaGctccaactgccattccttgg	12	9	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:73461435G>T	ENST00000377111.2	-	4	778	c.535C>A	c.(535-537)Ctt>Att	p.L179I	TRPM3_ENST00000423814.3_Missense_Mutation_p.L181I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L26I|TRPM3_ENST00000377110.3_Missense_Mutation_p.L179I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L26I|TRPM3_ENST00000396283.1_Missense_Mutation_p.L26I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L181I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L26I|TRPM3_ENST00000361823.5_Missense_Mutation_p.L26I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L26I|TRPM3_ENST00000396285.1_Missense_Mutation_p.L26I|TRPM3_ENST00000377097.3_Missense_Mutation_p.L26I|TRPM3_ENST00000377101.1_Missense_Mutation_p.L26I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L26I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L26I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L26I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	179					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						AGCTTGGGAAGCTCCAACTGC	0.463																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(535-537)Ctt>Att		transient receptor potential cation channel, subfamily M, member 3							116	115	115					9																	73461435		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73461435G>T	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.535C>A	9.37:g.73461435G>T	ENSP00000366315:p.Leu179Ile					TRPM3_ENST00000396285.1_Missense_Mutation_p.L26I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L26I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L26I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L181I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L26I|TRPM3_ENST00000377111.2_Missense_Mutation_p.L179I|TRPM3_ENST00000361823.5_Missense_Mutation_p.L26I|TRPM3_ENST00000377097.3_Missense_Mutation_p.L26I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L26I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L26I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L26I|TRPM3_ENST00000396283.1_Missense_Mutation_p.L26I|TRPM3_ENST00000377101.1_Missense_Mutation_p.L26I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L181I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L26I	p.L179I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			4	778	-			179					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.535C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.92|17.92|17.92	3.507800|3.507800|3.507800	0.64410|0.64410|0.64410	.|.|.	.|.|.	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|.	.|0.64085|.	.|-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08|.	6.01|6.01|6.01	5.1|5.1|5.1	0.69264|0.69264|0.69264	.|.|.	.|0.124281|.	.|0.56097|.	.|D|.	.|0.000031|.	T|T|T	0.76449|0.76449|0.76449	0.3989|0.3989|0.3989	M|M|M	0.77313|0.77313|0.77313	2.365|2.365|2.365	0.49389|0.49389|0.49389	D|D|D	0.999787|0.999787|0.999787	.|B;P;P;B;P;B;B;P;B;P;B|.	.|0.46656|.	.|0.049;0.85;0.493;0.107;0.882;0.361;0.021;0.604;0.361;0.858;0.107|.	.|B;B;B;B;B;B;B;B;B;P;B|.	.|0.53549|.	.|0.018;0.426;0.23;0.198;0.316;0.187;0.009;0.418;0.187;0.729;0.082|.	T|T|T	0.77752|0.77752|0.77752	-0.2470|-0.2470|-0.2470	5|10|5	.|0.49607|.	.|T|.	.|0.09|.	-28.4773|-28.4773|-28.4773	17.2209|17.2209|17.2209	0.86957|0.86957|0.86957	0.0:0.1258:0.8741:0.0|0.0:0.1258:0.8741:0.0|0.0:0.1258:0.8741:0.0	.|.|.	.|179;181;26;179;179;179;181;26;26;179;26|.	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.	D|I|R	25|179;179;26;26;26;181;26;26;26;26;181;26;26;26;26|68	.|ENSP00000366315:L179I;ENSP00000366314:L179I;ENSP00000366310:L26I;ENSP00000354066:L26I;ENSP00000366309:L26I;ENSP00000350140:L181I;ENSP00000386127:L26I;ENSP00000379581:L26I;ENSP00000379587:L26I;ENSP00000350791:L26I;ENSP00000389542:L181I;ENSP00000366305:L26I;ENSP00000379579:L26I;ENSP00000355395:L26I|.	.|ENSP00000350140:L181I|.	A|L|S	-|-|-	2|1|3	0|0|2	TRPM3|TRPM3|TRPM3	72651255|72651255|72651255	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.945000|7.945000|7.945000	0.87732|0.87732|0.87732	1.517000|1.517000|1.517000	0.48917|0.48917|0.48917	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCT|CTT|AGC		0.463	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		5	386	1	0	1	1	1	5	386					T	73461435	G	T	73461435	3	4	103	1	0	0	0	0	1	0	0	0	16640	971	34	3	4799	3	TRPM3	9	73461435	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1832592	73461435	67751996	76	35287											
MUSK	4593	broad.mit.edu	37	chr9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccatgtaccagaggatgCcgctccttctgaaccccaaa	7	16	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:113547892C>T	ENST00000374448.4	+	13	1806	c.1672C>T	c.(1672-1674)Ccg>Tcg	p.P558S	MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000416899.2_Missense_Mutation_p.P550S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(1648-1650)Ccg>Tcg		muscle, skeletal, receptor tyrosine kinase							215	207	209					9																	113547892		1966	4156	6122	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113547892C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1672C>T	9.37:g.113547892C>T	ENSP00000363571:p.Pro558Ser					MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S	p.P550S			O15146	MUSK_HUMAN			11	1774	+			558					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.1648C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084498	0.76642	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.88664	-0.83;-2.41	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92394	0.7586	L	0.45228	1.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90595	0.4540	10	0.33940	T	0.23	.	19.1684	0.93567	0.0:1.0:0.0:0.0	.	558	O15146	MUSK_HUMAN	S	564;558;558;472;472;74;556;74	ENSP00000363571:P558S;ENSP00000363561:P74S	ENSP00000189978:P564S	P	+	1	0	MUSK	112587713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	CCG		0.498	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	852	0	0	0	1	0	6	852					T	113547892	C	T	113547892	3	4	103	1	0	0	0	0	1	0	0	0	10030	739	26	2	1754	2	MUSK	9	113547892	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	40086457	113547892	27665539	77	35288											
ANAPC2	29882	broad.mit.edu	37	chr9	140082360	140082360	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtagcaaaaggcactgggGctcatccgcagagttctcgc	13	11	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:140082360G>C	ENST00000323927.2	-	2	317	c.313C>G	c.(313-315)Ccc>Gcc	p.P105A	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	105					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)		AGGCACTGGGGCTCATCCGCA	0.582																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(313-315)Ccc>Gcc		anaphase promoting complex subunit 2							89	93	92					9																	140082360		2203	4300	6503	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082360G>C	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.313C>G	9.37:g.140082360G>C	ENSP00000314004:p.Pro105Ala						p.P105A	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	317	-	all_cancers(76;0.0926)		105					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.313C>G	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452889	0.26161	.	.	ENSG00000176248	ENST00000323927	T	0.70399	-0.48	5.09	5.09	0.68999	.	0.187678	0.48767	D	0.000169	T	0.57007	0.2024	L	0.40543	1.245	0.31326	N	0.685481	B	0.06786	0.001	B	0.04013	0.001	T	0.52003	-0.8633	10	0.07482	T	0.82	-30.4898	11.8137	0.52197	0.0:0.1774:0.8226:0.0	.	105	Q9UJX6	ANC2_HUMAN	A	105	ENSP00000314004:P105A	ENSP00000314004:P105A	P	-	1	0	ANAPC2	139202181	1.000000	0.71417	0.983000	0.44433	0.770000	0.43624	2.929000	0.48916	2.365000	0.80145	0.561000	0.74099	CCC		0.582	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		30	191	0	0	0	1	0	30	191					C	140082360	G	C	140082360	3	2	103	1	0	0	0	0	1	0	0	0	603	1203	42	5	2203	5	ANAPC2	9	140082360	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	26534468	140082360	1131071	78	35289											
DNAJC1	64215	broad.mit.edu	37	chr10	22208818	22208818	+	Frame_Shift_Del	DEL	T	T	-													ccacactcttgctgccagtcTtttttttcttttctctcttt							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:22208818delT	ENST00000376980.3	-	5	868	c.578delA	c.(577-579)aagfs	p.K193fs		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	193					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)				GCTGCCAGTCTTTTTTTTCTT	0.303																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(577-579)agfs		DnaJ (Hsp40) homolog, subfamily C, member 1							110	116	114					10																	22208818		2202	4295	6497	SO:0001589	frameshift_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22208818delT	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.578delA	10.37:g.22208818delT	ENSP00000366179:p.Lys193fs						p.K193fs	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			5	868	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	193					B0YIZ8|Q5VX89|Q9H6B8	Frame_Shift_Del	DEL	ENST00000376980.3	37	c.578delA	CCDS7136.1																																																																																				0.303	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		8	829						8	829	---	---	---	---	-	22208818	T	-	22208818	7	5	103	1	0	1	0	1	0	0	0	0	4644	1609	56	0	1118	0	DNAJC1	10	22208818	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08		22208818	113325929	79	35290											
CUL2	8453	broad.mit.edu	37	chr10	35327850	35327850	+	Frame_Shift_Del	DEL	T	T	-													atgtttggtgtcacttaccaTtttttttctcttgtcgaatt							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:35327850delT	ENST00000374748.1	-	10	1188	c.875delA	c.(874-876)aatfs	p.N292fs	CUL2_ENST00000602371.1_Frame_Shift_Del_p.N235fs|CUL2_ENST00000374742.1_Frame_Shift_Del_p.N292fs|CUL2_ENST00000374751.3_Frame_Shift_Del_p.N292fs|CUL2_ENST00000374746.1_Frame_Shift_Del_p.N292fs|CUL2_ENST00000537177.1_Frame_Shift_Del_p.N311fs|CUL2_ENST00000374749.3_Frame_Shift_Del_p.N292fs			Q13617	CUL2_HUMAN	cullin 2	292					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TCACTTACCATTTTTTTTCTC	0.313																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(874-876)atfs		cullin 2							122	111	115					10																	35327850		2201	4295	6496	SO:0001589	frameshift_variant	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35327850delT	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.875delA	10.37:g.35327850delT	ENSP00000363880:p.Asn292fs					CUL2_ENST00000374742.1_Frame_Shift_Del_p.N292fs|CUL2_ENST00000374751.3_Frame_Shift_Del_p.N292fs|CUL2_ENST00000602371.1_Frame_Shift_Del_p.N235fs|CUL2_ENST00000374746.1_Frame_Shift_Del_p.N292fs|CUL2_ENST00000537177.1_Frame_Shift_Del_p.N311fs|CUL2_ENST00000374749.3_Frame_Shift_Del_p.N292fs	p.N292fs			Q13617	CUL2_HUMAN			10	1188	-			292					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Frame_Shift_Del	DEL	ENST00000374748.1	37	c.875delA	CCDS7179.1																																																																																				0.313	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		7	600						7	600	---	---	---	---	-	35327850	T	-	35327850	7	5	103	1	0	1	0	1	0	0	0	0	4066	1493	52	0	1414	0	CUL2	10	35327850	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08	13119032	35327850	100206897	80	35291											
FAM190B	54462	broad.mit.edu	37	chr10	86132185	86132185	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggaaaatgaaaaagcCttcagtaaaactgatgaatg	8	7	1	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:86132185C>T	ENST00000224756.8	+	2	1562	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	CCSER2_ENST00000359979.4_Silent_p.A459A|CCSER2_ENST00000372088.2_Silent_p.A459A	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	459					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											ATGAAAAAGCCTTCAGTAAAA	0.328																																						ENST00000224756.8																			0											c.(1375-1377)gcC>gcT		coiled-coil serine-rich protein 2							82	92	88					10																	86132185		2203	4296	6499	SO:0001819	synonymous_variant	54462							g.chr10:86132185C>T		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.1377C>T	10.37:g.86132185C>T						CCSER2_ENST00000372088.2_Silent_p.A459A|CCSER2_ENST00000359979.4_Silent_p.A459A	p.A459A	NM_018999.2	NP_061872.2					2	1562	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Silent	SNP	ENST00000224756.8	37	c.1377C>T	CCDS31235.1																																																																																				0.328	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		29	558	0	0	0	1	0	29	558					T	86132185	C	T	86132185	2	4	103	1	0	0	0	0	0	0	0	1	5543	668	24	2		2	FAM190B	10	86132185	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	50804335	86132185	49402562	81	35292											
LZTS2	84445	broad.mit.edu	37	chr10	102763860	102763860	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaggaaagctccgagaCcgggaggcagagcttcagca	15	10	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:102763860C>T	ENST00000370220.1	+	2	4068	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	LZTS2_ENST00000370223.3_Silent_p.D335D					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)		AGCTCCGAGACCGGGAGGCAG	0.632																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1003-1005)gaC>gaT		leucine zipper, putative tumor suppressor 2							43	47	45					10																	102763860		2201	4297	6498	SO:0001819	synonymous_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763860C>T	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.1005C>T	10.37:g.102763860C>T						LZTS2_ENST00000370223.3_Silent_p.D335D	p.D335D			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	4068	+			335						Silent	SNP	ENST00000370220.1	37	c.1005C>T	CCDS7507.1																																																																																				0.632	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		9	244	0	0	0	1	0	9	244					T	102763860	C	T	102763860	2	4	103	1	0	0	0	0	0	0	0	1	9178	506	18	2		2	LZTS2	10	102763860	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	16631675	102763860	32770887	82	35293											
PRLHR	2834	broad.mit.edu	37	chr10	120354499	120354499	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcagccggcgcacccgCgcgatcaccagcaccagcag	12	17	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:120354499C>T	ENST00000369169.1	-	1	257	c.258G>A	c.(256-258)gcG>gcA	p.A86A	PRLHR_ENST00000239032.2_Silent_p.A86A			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	86					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)		GGCGCACCCGCGCGATCACCA	0.657																																						ENST00000239032.2																			0				large_intestine(2)|lung(8)|ovary(1)|skin(1)	12						c.(256-258)gcG>gcA		prolactin releasing hormone receptor							97	82	87					10																	120354499		2203	4298	6501	SO:0001819	synonymous_variant	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120354499C>T	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.258G>A	10.37:g.120354499C>T						PRLHR_ENST00000369169.1_Silent_p.A86A	p.A86A	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	396	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	86					O75194|Q502U8|Q5VXR9	Silent	SNP	ENST00000369169.1	37	c.258G>A	CCDS7606.1																																																																																				0.657	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		5	348	0	0	0	1	0	5	348					T	120354499	C	T	120354499	2	4	103	1	0	0	0	0	0	0	0	1	12577	755	27	1		1	PRLHR	10	120354499	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	17590639	120354499	15180248	83	35294											
ATE1	11101	broad.mit.edu	37	chr10	123503198	123503198	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcagaggtgaacaggtcaGtttctgaacagcagcatccg	13	10	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:123503198G>A	ENST00000224652.6	-	12	1639	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N	ATE1_ENST00000369040.3_Silent_p.N422N|ATE1_ENST00000543447.1_Silent_p.N403N|ATE1_ENST00000535655.1_Silent_p.N219N|ATE1_ENST00000369043.3_Silent_p.N518N|ATE1_ENST00000540606.1_Silent_p.N511N	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	518					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)				GAACAGGTCAGTTTCTGAACA	0.522																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1552-1554)aaC>aaT		arginyltransferase 1							72	60	64					10																	123503198		2203	4300	6503	SO:0001819	synonymous_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123503198G>A	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.1554C>T	10.37:g.123503198G>A						ATE1_ENST00000535655.1_Silent_p.N219N|ATE1_ENST00000369040.3_Silent_p.N422N|ATE1_ENST00000540606.1_Silent_p.N511N|ATE1_ENST00000543447.1_Silent_p.N403N|ATE1_ENST00000224652.6_Silent_p.N518N	p.N518N	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			12	1640	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	518					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.1554C>T	CCDS31300.1																																																																																				0.522	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		11	182	0	0	0	1	0	11	182					A	123503198	G	A	123503198	2	1	103	1	0	0	0	0	0	0	0	1	1079	1020	36	2		2	ATE1	10	123503198	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	3148699	123503198	12031549	84	35295											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacagcagctggactgggagCagctgggcttgcagcagctg	16	10	0	0	rs548851553		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													c|||	1	0.000199681	0.0	0.0	5008	,	,		16593	0.0		0.0	False		,,,				2504	0.001					ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(463-465)tGc>tCc		keratin associated protein 5-3							130	142	138					11																	1629152		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629152C>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.464G>C	11.37:g.1629152C>G	ENSP00000382592:p.Cys155Ser						p.C155S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	541	-		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)	155			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.464G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226901	0.22542	.	.	ENSG00000196224	ENST00000399685	T	0.01527	4.8	3.33	3.33	0.38152	.	.	.	.	.	T	0.09598	0.0236	M	0.83012	2.62	0.33018	D	0.528479	D	0.65815	0.995	D	0.63793	0.918	T	0.04976	-1.0914	9	0.62326	D	0.03	.	12.975	0.58532	0.0:1.0:0.0:0.0	.	155	Q6L8H2	KRA53_HUMAN	S	155	ENSP00000382592:C155S	ENSP00000382592:C155S	C	-	2	0	KRTAP5-3	1585728	.	.	0.662000	0.29724	0.024000	0.10985	.	.	1.809000	0.52856	0.281000	0.19383	TGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	1043	0	0	0	1	0	7	1043					G	1629152	C	G	1629152	3	3	103	1	0	0	0	0	1	0	0	0	8593	710	25	5	256	5	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		1629152	133377364	85	35296											
IPO7	10527	broad.mit.edu	37	chr11	9459724	9459724	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtttctggacagattttgCcggcttttatccttttattt	8	7	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:9459724C>T	ENST00000379719.3	+	22	2729	c.2587C>T	c.(2587-2589)Ccg>Tcg	p.P863S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	863					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.P863S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAGATTTTGCCGGCTTTTAT	0.398																																						ENST00000379719.3																			1	Substitution - Missense(1)	p.P863S(1)	lung(1)	NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2587-2589)Ccg>Tcg		importin 7							145	163	157					11																	9459724		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9459724C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2587C>T	11.37:g.9459724C>T	ENSP00000369042:p.Pro863Ser						p.P863S	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	22	2729	+			863					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2587C>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081390	0.55753	.	.	ENSG00000205339	ENST00000379719	T	0.66638	-0.22	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78150	-0.2316	10	0.16420	T	0.52	.	19.0792	0.93175	0.0:1.0:0.0:0.0	.	863	O95373	IPO7_HUMAN	S	863	ENSP00000369042:P863S	ENSP00000369042:P863S	P	+	1	0	IPO7	9416300	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.164000	0.77533	2.507000	0.84556	0.585000	0.79938	CCG		0.398	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		7	952	0	0	0	1	0	7	952					T	9459724	C	T	9459724	3	4	103	1	0	0	0	0	1	0	0	0	7827	739	26	2	2673	2	IPO7	11	9459724	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	7830572	9459724	125546792	86	35297											
CALCA	796	broad.mit.edu	37	chr11	14991575	14991575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcaggaggcgcgcttcgtCctcactgagcgtggccgggt	16	13	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:14991575C>T	ENST00000486207.1	-	2	141	c.133G>A	c.(133-135)Gac>Aac	p.D45N	CALCA_ENST00000361010.3_Missense_Mutation_p.D45N|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000331587.4_Missense_Mutation_p.D45N|CALCA_ENST00000359642.3_Missense_Mutation_p.D45N|CALCA_ENST00000396372.2_Missense_Mutation_p.D45N			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	45					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						CGCGCTTCGTCCTCACTGAGC	0.647											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361010.3																			0				central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						c.(133-135)Gac>Aac		calcitonin-related polypeptide alpha	Phentolamine(DB00692)						41	41	41					11																	14991575		2200	4294	6494	SO:0001583	missense	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14991575C>T	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"Endogenous ligands"	1437	protein-coding gene	gene with protein product	"calcitonin"	114130	"calcitonin 1"	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.133G>A	11.37:g.14991575C>T	ENSP00000417833:p.Asp45Asn		OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	699	CALCA_ENST00000331587.4_Missense_Mutation_p.D45N|CALCA_ENST00000396372.2_Missense_Mutation_p.D45N|CALCA_ENST00000359642.3_Missense_Mutation_p.D45N|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.D45N	p.D45N	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN			3	207	-			45					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.133G>A	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460413	0.43736	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	4.83	3.86	0.44501	.	0.545783	0.21140	N	0.079485	T	0.14313	0.0346	L	0.31926	0.97	0.80722	D	1	B;B	0.27316	0.175;0.084	B;B	0.27170	0.052;0.077	T	0.08472	-1.0720	10	0.30078	T	0.28	-17.1724	6.4121	0.21696	0.2889:0.6144:0.0:0.0967	.	45;45	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	N	45	ENSP00000417833:D45N;ENSP00000354286:D45N;ENSP00000352663:D45N;ENSP00000331746:D45N;ENSP00000379657:D45N	ENSP00000331746:D45N	D	-	1	0	CALCA	14948151	0.968000	0.33430	0.098000	0.21074	0.081000	0.17604	2.326000	0.43849	1.312000	0.45043	0.655000	0.94253	GAC		0.647	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741		46	113	0	0	0	1	0	46	113					T	14991575	C	T	14991575	3	4	103	1	0	0	0	0	1	0	0	0	2582	855	30	2	464	2	CALCA	11	14991575	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	5531851	14991575	120014941	87	35298											
PRRG4	79056	broad.mit.edu	37	chr11	32852139	32852139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggggtttcctcattgcGcaagaggtccaaaggcttct	11	12	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:32852139G>A	ENST00000257836.3	+	2	317	c.64G>A	c.(64-66)Gca>Aca	p.A22T		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	22						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TCCTCATTGCGCAAGAGGTCC	0.478																																						ENST00000257836.3																			0				large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.(64-66)Gca>Aca		proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							105	96	99					11																	32852139		2202	4299	6501	SO:0001583	missense	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32852139G>A	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.64G>A	11.37:g.32852139G>A	ENSP00000257836:p.Ala22Thr						p.A22T	NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN			2	317	+	Breast(20;0.206)		22						Missense_Mutation	SNP	ENST00000257836.3	37	c.64G>A	CCDS7881.1	.	.	.	.	.	.	.	.	.	.	G	1.906	-0.451978	0.04540	.	.	ENSG00000135378	ENST00000257836	D	0.97772	-4.53	4.94	2.48	0.30137	.	0.431926	0.25089	N	0.033230	D	0.86760	0.6010	N	0.00972	-1.085	0.23624	N	0.997266	B	0.02656	0.0	B	0.01281	0.0	T	0.79431	-0.1806	10	0.21540	T	0.41	-1.9388	2.2791	0.04110	0.6037:0.1565:0.0886:0.1512	.	22	Q9BZD6	TMG4_HUMAN	T	22	ENSP00000257836:A22T	ENSP00000257836:A22T	A	+	1	0	PRRG4	32808715	0.000000	0.05858	0.827000	0.32855	0.001000	0.01503	-0.392000	0.07314	0.712000	0.32039	-0.294000	0.09567	GCA		0.478	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081		5	613	0	0	0	1	0	5	613					A	32852139	G	A	32852139	3	1	103	1	0	0	0	0	1	0	0	0	12655	1087	38	1	66	1	PRRG4	11	32852139	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	17860564	32852139	102154377	88	35299											
ALX4	60529	broad.mit.edu	37	chr11	44286499	44286499	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gtccggctcgccgttgagctCgtagccattgaggcctgggc	15	13	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:44286499C>G	ENST00000329255.3	-	4	1244	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	381					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGTTGAGCTCGTAGCCATTG	0.652																																						ENST00000329255.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1141-1143)Gag>Cag		ALX homeobox 4							57	52	54					11																	44286499		2203	4299	6502	SO:0001583	missense	60529				hair follicle development			g.chr11:44286499C>G	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1141G>C	11.37:g.44286499C>G	ENSP00000332744:p.Glu381Gln						p.E381Q	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1244	-			381					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.1141G>C	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455312	0.84209	.	.	ENSG00000052850	ENST00000329255	D	0.90563	-2.69	5.19	5.19	0.71726	.	0.059235	0.64402	D	0.000002	D	0.90903	0.7141	L	0.46157	1.445	0.42428	D	0.992668	D	0.53312	0.959	P	0.54759	0.76	D	0.89026	0.3438	10	0.28530	T	0.3	.	13.9861	0.64337	0.1515:0.8485:0.0:0.0	.	381	Q9H161	ALX4_HUMAN	Q	381	ENSP00000332744:E381Q	ENSP00000332744:E381Q	E	-	1	0	ALX4	44243075	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.538000	0.67193	2.575000	0.86900	0.561000	0.74099	GAG		0.652	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			14	355	0	0	0	1	0	14	355					G	44286499	C	G	44286499	3	3	103	1	0	0	0	0	1	0	0	0	558	893	31	5	98	5	ALX4	11	44286499	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	11434360	44286499	90720017	89	35300											
OR8K1	390157	broad.mit.edu	37	chr11	56113884	56113884	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctctttattctatcagcaAtggcctatgatcgctacgta	7	10	3	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:56113884A>G	ENST00000279783.2	+	1	464	c.370A>G	c.(370-372)Atg>Gtg	p.M124V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCTATCAGCAATGGCCTATGA	0.403										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(370-372)Atg>Gtg		olfactory receptor, family 8, subfamily K, member 1							199	199	199					11																	56113884		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113884A>G	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.370A>G	11.37:g.56113884A>G	ENSP00000279783:p.Met124Val	HNSCC(65;0.19)					p.M124V	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	464	+	Esophageal squamous(21;0.00448)		124					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.370A>G	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528822	0.64860	.	.	ENSG00000150261	ENST00000279783	T	0.00995	5.46	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.04227	0.0117	H	0.94964	3.605	0.45216	D	0.99822	P	0.51537	0.946	P	0.44647	0.456	T	0.08700	-1.0709	10	0.87932	D	0	-28.0834	14.7062	0.69191	1.0:0.0:0.0:0.0	.	124	Q8NGG5	OR8K1_HUMAN	V	124	ENSP00000279783:M124V	ENSP00000279783:M124V	M	+	1	0	OR8K1	55870460	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.771000	0.91751	1.862000	0.54008	0.448000	0.29417	ATG		0.403	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		245	794	0	0	0	1	0	245	794					G	56113884	A	G	56113884	3	3	103	1	0	0	0	0	1	0	0	0	11285	101	4	4	372	4	OR8K1	11	56113884	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	11827385	56113884	78892632	90	35301											
CACNA1C	775	broad.mit.edu	37	chr12	2566843	2566843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggccttccgcgtgctgcGccccctgcggctggtgtccg	16	16	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:2566843G>A	ENST00000347598.4	+	5	728	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CACNA1C_ENST00000399591.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R243H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R243H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R243H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	243					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)	CGCGTGCTGCGCCCCCTGCGG	0.562																																						ENST00000399655.1																			0				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						c.(727-729)cGc>cAc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						162	183	176					12																	2566843		2142	4235	6377	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2566843G>A	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.728G>A	12.37:g.2566843G>A	ENSP00000266376:p.Arg243His					CACNA1C_ENST00000480911.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R243H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R243H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R243H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R243H	p.R243H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	5	993	+			243					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.728G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834960	0.91036	.	.	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	0.99591	-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24;-6.24	4.15	4.15	0.48705	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.99965	5.09	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;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;D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.996;1.0;0.997;0.998;0.993;0.998;1.0;1.0;0.998;0.994;0.998;1.0;0.998;1.0;0.989;0.998;0.998;0.993;0.993	D	0.95822	0.8850	10	0.87932	D	0	.	16.6608	0.85240	0.0:0.0:1.0:0.0	.	243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;243;84	ENSP00000336982:R243H;ENSP00000382563:R243H;ENSP00000437936:R243H;ENSP00000382552:R243H;ENSP00000382547:R243H;ENSP00000382506:R243H;ENSP00000382530:R243H;ENSP00000382546:R243H;ENSP00000382500:R243H;ENSP00000382549:R243H;ENSP00000266376:R243H;ENSP00000382515:R243H;ENSP00000382510:R243H;ENSP00000341092:R243H;ENSP00000382537:R243H;ENSP00000329877:R243H;ENSP00000382557:R243H;ENSP00000385724:R243H;ENSP00000382512:R243H;ENSP00000382542:R243H;ENSP00000382526:R243H;ENSP00000385896:R243H;ENSP00000382504:R243H	ENSP00000323129:R84H	R	+	2	0	CACNA1C	2437104	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	9.542000	0.98086	2.139000	0.66308	0.563000	0.77884	CGC		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		65	991	0	0	0	1	0	65	991					A	2566843	G	A	2566843	3	1	103	1	0	0	0	0	1	0	0	0	2547	1087	38	1	746	1	CACNA1C	12	2566843	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		2566843	131285052	91	35302											
KCNA6	3742	broad.mit.edu	37	chr12	4920759	4920759	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gctaccttcctacaccacatCgggcctatgcagagaaaaga	8	13	0	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:4920759C>T	ENST00000280684.3	+	1	2418	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	KCNA6_ENST00000433855.1_Missense_Mutation_p.R518W|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	518					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)	TACACCACATCGGGCCTATGC	0.597										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(1552-1554)Cgg>Tgg		potassium voltage-gated channel, shaker-related subfamily, member 6							61	64	63					12																	4920759		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920759C>T	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.1552C>T	12.37:g.4920759C>T	ENSP00000280684:p.Arg518Trp	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R518W	p.R518W	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	2418	+			518						Missense_Mutation	SNP	ENST00000280684.3	37	c.1552C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935726	0.34189	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97553	-4.43;-4.43	4.97	4.01	0.46588	.	0.394655	0.23474	N	0.047785	D	0.95027	0.8390	N	0.19112	0.55	0.31860	N	0.62104	D	0.76494	0.999	P	0.53809	0.735	D	0.93607	0.6935	10	0.31617	T	0.26	.	14.9663	0.71196	0.1522:0.8478:0.0:0.0	.	518	P17658	KCNA6_HUMAN	W	518	ENSP00000408321:R518W;ENSP00000280684:R518W	ENSP00000280684:R518W	R	+	1	2	KCNA6	4791020	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	5.194000	0.65125	2.578000	0.87016	0.655000	0.94253	CGG		0.597	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		12	337	0	0	0	1	0	12	337					T	4920759	C	T	4920759	3	4	103	1	0	0	0	0	1	0	0	0	8037	875	31	1	1554	1	KCNA6	12	4920759	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2353916	4920759	128931136	92	35303											
A2ML1	144568	broad.mit.edu	37	chr12	8982332	8982332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttccagtgtatttccGcattgtcaccatggatagca	7	11	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:8982332G>A	ENST00000299698.7	+	4	599	c.419G>A	c.(418-420)cGc>cAc	p.R140H	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGTATTTCCGCATTGTCACC	0.443																																						ENST00000299698.7																			0				NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						c.(418-420)cGc>cAc		alpha-2-macroglobulin-like 1							147	141	143					12																	8982332		1964	4165	6129	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8982332G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.419G>A	12.37:g.8982332G>A	ENSP00000299698:p.Arg140His					A2ML1-AS1_ENST00000537288.1_RNA	p.R140H	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN			4	599	+			0						Missense_Mutation	SNP	ENST00000299698.7	37	c.419G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131704	0.77662	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.77229	-1.08	4.13	3.24	0.37175	Alpha-2-macroglobulin, N-terminal (1);	0.494319	0.17297	N	0.179416	D	0.88526	0.6460	M	0.91818	3.245	0.21325	N	0.999721	D	0.89917	1.0	D	0.91635	0.999	T	0.78494	-0.2182	10	0.87932	D	0	.	7.78	0.29060	0.1116:0.0:0.8884:0.0	.	140	A8K2U0	A2ML1_HUMAN	H	140	ENSP00000299698:R140H	ENSP00000299698:R140H	R	+	2	0	A2ML1	8873599	0.013000	0.17824	0.027000	0.17364	0.874000	0.50279	1.060000	0.30530	1.334000	0.45468	0.637000	0.83480	CGC		0.443	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		5	522	0	0	0	1	0	5	522					A	8982332	G	A	8982332	3	1	103	1	0	0	0	0	1	0	0	0	5	1087	38	1	433	1	A2ML1	12	8982332	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	4061573	8982332	124869563	93	35304											
PRB2	653247	broad.mit.edu	37	chr12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-													gtggtccttgtggctttcctGgaggaggtgggggaccttga							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cctcca>cca	p.74_75PP>P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	74	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)			TGGCTTTCCTGGAGGAGGTGGGG	0.601																																						ENST00000389362.4																			0				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						c.(220-225)cca>cc		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546788_11546790delGGA	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.222_224delTCC	12.37:g.11546791_11546793delGGA	ENSP00000374013:p.Pro75del					PRB1_ENST00000546254.1_Intron	p.PP74del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	257_259	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.222_224delTCC	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	1312						7	1312	---	---	---	---	-	11546790	GGA	-	11546788	7	5	103	1	0	1	0	1	0	0	0	0	12490	1348	47	0	1030	0	PRB2	12	11546788	In_Frame_Del	DEL	GGA	TCGA-LB-A8F3-01A-11D-A36O-08	2564456	11546788	122305107	94	35305											
TSPAN11	441631	broad.mit.edu	37	chr12	31116773	31116773	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcaggtcgggggagcaGccgtcctggctgtgggcatc	17	12	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:31116773G>T	ENST00000261177.9	+	3	156	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	TSPAN11_ENST00000544427.1_Missense_Mutation_p.A23S|TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000546076.1_Missense_Mutation_p.A33S	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	33						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)					CGGGGGAGCAGCCGTCCTGGC	0.662																																						ENST00000261177.9																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11						c.(97-99)Gcc>Tcc		tetraspanin 11							78	69	72					12																	31116773		2203	4300	6503	SO:0001583	missense	441631					integral to membrane		g.chr12:31116773G>T		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.97G>T	12.37:g.31116773G>T	ENSP00000261177:p.Ala33Ser					TSPAN11_ENST00000544427.1_Missense_Mutation_p.A23S|TSPAN11_ENST00000546076.1_Missense_Mutation_p.A33S|TSPAN11_ENST00000535215.1_5'UTR	p.A33S	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN			3	156	+	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)		33					A1L158|B2RUX6	Missense_Mutation	SNP	ENST00000261177.9	37	c.97G>T	CCDS31765.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999666	0.35320	.	.	ENSG00000110900	ENST00000546076;ENST00000544427;ENST00000261177	T;T;T	0.80738	-1.41;-1.41;-1.41	3.5	2.6	0.31112	.	0.149427	0.43919	U	0.000512	T	0.79112	0.4391	M	0.76328	2.33	0.20489	N	0.999896	P;B	0.35155	0.487;0.083	B;B	0.39465	0.3;0.177	T	0.68977	-0.5267	10	0.41790	T	0.15	.	8.7712	0.34733	0.1194:0.0:0.8806:0.0	.	23;33	F5H0F0;A1L157	.;TSN11_HUMAN	S	33;23;33	ENSP00000437403:A33S;ENSP00000439895:A23S;ENSP00000261177:A33S	ENSP00000261177:A33S	A	+	1	0	TSPAN11	31008040	0.999000	0.42202	0.004000	0.12327	0.645000	0.38454	6.020000	0.70826	0.571000	0.29365	0.457000	0.33378	GCC		0.662	TSPAN11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399888.1	XM_497334		9	331	1	0	3.86212e-05	1	3.92613e-05	9	331					T	31116773	G	T	31116773	3	4	103	1	0	0	0	0	1	0	0	0	16688	971	34	3	103	3	TSPAN11	12	31116773	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	19569985	31116773	102735122	95	35306											
KRT74	121391	broad.mit.edu	37	chr12	52964517	52964517	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatctcctcataatgcatgCggacctcagcgatgatgctg	10	12	3	1	rs200558741		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:52964517C>T	ENST00000305620.2	-	5	991	c.944G>A	c.(943-945)cGc>cAc	p.R315H	KRT74_ENST00000549343.1_Missense_Mutation_p.R315H	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	315	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATAATGCATGCGGACCTCAGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17990	0.001		0.0	False		,,,				2504	0.0					ENST00000549343.1																			0				kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(943-945)cGc>cAc		keratin 74							123	96	105					12																	52964517		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52964517C>T	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.944G>A	12.37:g.52964517C>T	ENSP00000307240:p.Arg315His					KRT74_ENST00000305620.2_Missense_Mutation_p.R315H	p.R315H			Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	5	982	-			315			Coil 2.|Rod.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.944G>A	CCDS8832.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.276	1.046988	0.19748	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.93307	-3.2;-3.2	4.49	3.56	0.40772	Filament (1);	0.000000	0.34291	N	0.004087	D	0.93973	0.8070	H	0.95187	3.635	0.09310	N	1	P	0.36633	0.562	B	0.36186	0.219	D	0.90228	0.4277	10	0.87932	D	0	.	6.036	0.19708	0.0:0.6265:0.0:0.3735	.	315	Q7RTS7	K2C74_HUMAN	H	315	ENSP00000447447:R315H;ENSP00000307240:R315H	ENSP00000307240:R315H	R	-	2	0	KRT74	51250784	0.000000	0.05858	0.644000	0.29465	0.067000	0.16453	-0.672000	0.05244	1.137000	0.42214	0.655000	0.94253	CGC		0.592	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		5	217	0	0	0	1	0	5	217					T	52964517	C	T	52964517	3	4	103	1	0	0	0	0	1	0	0	0	8517	768	27	1	665	1	KRT74	12	52964517	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	21847744	52964517	80887378	96	35307											
HELB	92797	broad.mit.edu	37	chr12	66709127	66709128	+	Frame_Shift_Ins	INS	-	-	A													gagctaaagacaaaccatagINSagcagaatctcagctcattg							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:66709127_66709128insA	ENST00000247815.4	+	6	2023_2024	c.1964_1965insA	c.(1963-1968)agagcafs	p.A656fs		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	656					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)		ACAAACCATAGAGCAGAATCTC	0.342																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1963-1965)agcfs		helicase (DNA) B																																				SO:0001589	frameshift_variant	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66709127_66709128insA	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.1965dupA	12.37:g.66709128_66709128dupA	ENSP00000247815:p.Ala656fs						p.S655fs	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	6	2023_2024	+			655					A8K4C9|Q4G0T2|Q9H7L5	Frame_Shift_Ins	INS	ENST00000247815.4	37	c.1964_1965insA	CCDS8976.1																																																																																				0.342	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			67	567						67	567	---	---	---	---	A	66709128	-	A	66709127	7	5	103	1	0	1	1	0	0	0	0	0	7075	942	33	0	1986	0	HELB	12	66709127	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	13744610	66709127	67142768	97	35308											
HIP1R	9026	broad.mit.edu	37	chr12	123333155	123333170	+	Splice_Site	DEL	TGTGAGTAGCAGCTGC	TGTGAGTAGCAGCTGC	-													cttcgagacgggcaccccaaTgtgagtagcagctgctgcct					rs368178583		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:123333155_123333170delTGTGAGTAGCAGCTGC	ENST00000253083.4	+	3	425	c.300delTGTGAGTAGCAGCTGC	c.(298-300)aat>aa	p.N100fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	100	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				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)		GGCACCCCAATGTGAGTAGCAGCTGCTGCCTCTGCT	0.662																																						ENST00000253083.4																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.e3+1		huntingtin interacting protein 1 related																																				SO:0001630	splice_region_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123333155_123333170delTGTGAGTAGCAGCTGC	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.300+1TGTGAGTAGCAGCTGC>-	12.37:g.123333155_123333170delTGTGAGTAGCAGCTGC							p.100_splice	NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	3	425	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		100			ENTH.		A6NHQ6|Q6NXG8|Q9UED9	Splice_Site	DEL	ENST00000253083.4	37	c.300_splice	CCDS31922.1																																																																																				0.662	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959	Frame_Shift_Del	17	194						17	194	---	---	---	---	-	123333170	TGTGAGTAGCAGCTGC	-	123333155	8	5	103	1	0	1	0	1	0	0	1	0	7145	1478	51	0	310	0	HIP1R	12	123333155	Splice_Site	DEL	TGTGAGTAGCAGCTGC	TCGA-LB-A8F3-01A-11D-A36O-08	56624028	123333155	10518740	98	35309											
MTMR6	9107	broad.mit.edu	37	chr13	25826043	25826043	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aactgtaaatctgtgagattCggaactgtagagaggattta	11	4	1	2	rs370493335		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:25826043C>T	ENST00000381801.5	-	12	2187	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E476K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	476	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				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)		CTGTGAGATTCGGAACTGTAG	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16807	0.0		0.0	False		,,,				2504	0.0					ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(1426-1428)Gaa>Aaa		myotubularin related protein 6		C	LYS/GLU	0,4406		0,0,2203	116	132	126		1426	-5	0	13		126	1,8597	2.2+/-6.3	0,1,4298	no	missense	MTMR6	NM_004685.3	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	476/622	25826043	1,13003	2203	4299	6502	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25826043C>T	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.1426G>A	13.37:g.25826043C>T	ENSP00000371221:p.Glu476Lys					MTMR6_ENST00000540661.1_Missense_Mutation_p.E476K	p.E476K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	12	2187	-		Lung SC(185;0.0225)|Breast(139;0.0351)	476			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.1426G>A	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	3.298	-0.143515	0.06627	0.0	1.16E-4	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.90133	-2.62;-2.62	5.63	-5.02	0.02982	Myotubularin phosphatase domain (1);	0.741247	0.14353	N	0.324976	T	0.78130	0.4235	L	0.31926	0.97	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.65717	-0.6100	10	0.07030	T	0.85	.	7.079	0.25221	0.0:0.2984:0.3046:0.397	.	476;476	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	K	476;476;476;44	ENSP00000443161:E476K;ENSP00000371221:E476K	ENSP00000317987:E44K	E	-	1	0	MTMR6	24724043	0.000000	0.05858	0.002000	0.10522	0.740000	0.42216	-0.079000	0.11357	-0.861000	0.04094	-0.385000	0.06624	GAA		0.328	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		16	1038	0	0	0	1	0	16	1038					T	25826043	C	T	25826043	3	4	103	1	0	0	0	0	1	0	0	0	9988	893	31	1	451	1	MTMR6	13	25826043	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		25826043	89343835	99	35310											
KBTBD6	89890	broad.mit.edu	37	chr13	41705888	41705888	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcactgggaccccGctctttgggagcagcctcca	11	15	2	0	rs61999308		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:41705888G>A	ENST00000379485.1	-	1	994	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R188W	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	254										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)		CTGGGACCCCGCTCTTTGGGA	0.582																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(760-762)Cgg>Tgg		kelch repeat and BTB (POZ) domain containing 6							62	63	62					13																	41705888		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705888G>A	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.760C>T	13.37:g.41705888G>A	ENSP00000368799:p.Arg254Trp					KBTBD6_ENST00000499385.2_Missense_Mutation_p.R188W	p.R254W	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		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)	1	994	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	254					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.760C>T	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	15.36	2.811259	0.50527	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.74209	-0.82;-0.82	3.69	3.69	0.42338	BTB/Kelch-associated (2);	0.227860	0.29980	N	0.010714	D	0.84479	0.5481	M	0.84326	2.69	0.38841	D	0.956059	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	D	0.86451	0.1773	10	0.87932	D	0	.	8.6734	0.34165	0.0:0.0:0.7723:0.2277	.	188;254	F5GZN7;Q86V97	.;KBTB6_HUMAN	W	254;188	ENSP00000368799:R254W;ENSP00000444326:R188W	ENSP00000368799:R254W	R	-	1	2	KBTBD6	40603888	0.465000	0.25815	0.999000	0.59377	0.991000	0.79684	0.528000	0.23002	2.065000	0.61736	0.462000	0.41574	CGG		0.582	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		101	277	0	0	0	1	0	101	277					A	41705888	G	A	41705888	3	1	103	1	0	0	0	0	1	0	0	0	8027	1086	38	1	1268	1	KBTBD6	13	41705888	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	15879845	41705888	73463990	100	35311											
SLITRK5	26050	broad.mit.edu	37	chr13	88330019	88330021	+	In_Frame_Del	DEL	GCA	GCA	-													tacagcagcaaccaccacctGcagcagcagcagcagccgcc					rs552694563	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:88330019_88330021delGCA	ENST00000325089.6	+	2	2595_2597	c.2376_2378delGCA	c.(2374-2379)ctgcag>ctg	p.Q797del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.Q556del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	797					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)					ACCACCACCTgcagcagcagcag	0.655																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2374-2379)ctg>ct		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88330019_88330021delGCA	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.2376_2378delGCA	13.37:g.88330028_88330030delGCA	ENSP00000366283:p.Gln797del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.LQ551del	p.LQ792del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2595_2597	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		792					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2376_2378delGCA	CCDS9465.1																																																																																				0.655	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	212						8	212	---	---	---	---	-	88330021	GCA	-	88330019	7	5	103	1	0	1	0	1	0	0	0	0	14796	1306	46	0	2378	0	SLITRK5	13	88330019	In_Frame_Del	DEL	GCA	TCGA-LB-A8F3-01A-11D-A36O-08	46624131	88330019	26839859	101	35312											
DOCK9	23348	broad.mit.edu	37	chr13	99566593	99566593	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgatgttaccttggcaagttCcggcaggtagctatctaaac	10	10	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:99566593C>T	ENST00000376460.1	-	9	1029	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK9_ENST00000448493.2_Missense_Mutation_p.E329K|DOCK9_ENST00000339416.2_Missense_Mutation_p.E318K|DOCK9_ENST00000442173.1_Missense_Mutation_p.E317K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	318					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)					TTGGCAAGTTCCGGCAGGTAG	0.393																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(949-951)Gaa>Aaa		dedicator of cytokinesis 9							70	67	68					13																	99566593		1887	4109	5996	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99566593C>T	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.949G>A	13.37:g.99566593C>T	ENSP00000365643:p.Glu317Lys					DOCK9_ENST00000448493.2_Missense_Mutation_p.E329K|DOCK9_ENST00000339416.2_Missense_Mutation_p.E318K|DOCK9_ENST00000442173.1_Missense_Mutation_p.E317K	p.E317K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			9	1029	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		318					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.949G>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243118	0.79912	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.20598	2.41;2.49;2.06;2.06	6.16	6.16	0.99307	.	0.695998	0.14892	N	0.292369	T	0.29620	0.0739	M	0.68317	2.08	0.54753	D	0.999985	B;B;B;B;B	0.22983	0.038;0.032;0.078;0.004;0.008	B;B;B;B;B	0.23018	0.043;0.013;0.013;0.018;0.01	T	0.04840	-1.0923	9	.	.	.	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	318;317;317;317;318	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	K	317;318;318;318;317;318;329;317	ENSP00000365643:E317K;ENSP00000341086:E318K;ENSP00000401958:E329K;ENSP00000406883:E317K	.	E	-	1	0	DOCK9	98364594	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.097000	0.64542	2.937000	0.99478	0.650000	0.86243	GAA		0.393	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		6	56	0	0	0	1	0	6	56					T	99566593	C	T	99566593	3	4	103	1	0	0	0	0	1	0	0	0	4710	864	30	2	5510	2	DOCK9	13	99566593	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	11236574	99566593	15603285	102	35313											
TPP2	7174	broad.mit.edu	37	chr13	103266497	103266498	+	Frame_Shift_Ins	INS	-	-	A													ggcaaatatcatattggcatINSaaaaaatggctatgacttct							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:103266497_103266498insA	ENST00000376065.4	+	3	377_378	c.341_342insA	c.(340-345)ataaaafs	p.IK114fs	TPP2_ENST00000376052.3_Frame_Shift_Ins_p.IK114fs	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	114	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)					CATATTGGCATAAAAAATGGCT	0.371																																						ENST00000376052.3																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(340-342)aaafs		tripeptidyl peptidase II																																				SO:0001589	frameshift_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103266497_103266498insA	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.347dupA	13.37:g.103266503_103266503dupA	ENSP00000365233:p.Ile114fs					TPP2_ENST00000376065.4_Frame_Shift_Ins_p.K114fs	p.K114fs			P29144	TPP2_HUMAN			3	357_358	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		114					Q5VZU8	Frame_Shift_Ins	INS	ENST00000376065.4	37	c.341_342insA	CCDS9502.1																																																																																				0.371	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2			11	416						11	416	---	---	---	---	A	103266498	-	A	103266497	7	5	103	1	0	1	1	0	0	0	0	0	16465	1406	49	0	351	0	TPP2	13	103266497	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08	3699904	103266497	11903381	103	35314											
EFNB2	1948	broad.mit.edu	37	chr13	107148161	107148161	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccctccctcctggttatccAggccctccaaagacccattt	5	19	0	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:107148161A>G	ENST00000245323.4	-	3	583	c.434T>C	c.(433-435)cTg>cCg	p.L145P		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	145	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTGGTTATCCAGGCCCTCCAA	0.413																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(433-435)cTg>cCg		ephrin-B2							239	217	225					13																	107148161		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107148161A>G	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.434T>C	13.37:g.107148161A>G	ENSP00000245323:p.Leu145Pro						p.L145P	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			3	583	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		145					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.434T>C	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756121	0.69648	.	.	ENSG00000125266	ENST00000245323	D	0.88124	-2.34	5.49	5.49	0.81192	Cupredoxin (2);	0.224048	0.38058	N	0.001831	D	0.93667	0.7977	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.94557	0.7759	10	0.87932	D	0	.	15.624	0.76833	1.0:0.0:0.0:0.0	.	145	P52799	EFNB2_HUMAN	P	145	ENSP00000245323:L145P	ENSP00000245323:L145P	L	-	2	0	EFNB2	105946162	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.997000	0.93544	2.090000	0.63153	0.459000	0.35465	CTG		0.413	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		6	891	0	0	0	1	0	6	891					G	107148161	A	G	107148161	3	3	103	1	0	0	0	0	1	0	0	0	4972	188	7	4	579	4	EFNB2	13	107148161	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	3881664	107148161	8021717	104	35315											
ACIN1	22985	broad.mit.edu	37	chr14	23528647	23528647	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tcgccgcttctcccgctcctTggcccgttcggcccgctctg	10	20	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:23528647T>G	ENST00000262710.1	-	19	4063	c.3736A>C	c.(3736-3738)Aag>Cag	p.K1246Q	ACIN1_ENST00000457657.1_Missense_Mutation_p.K1206Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.K488Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.K519Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.K1188Q|CDH24_ENST00000487137.2_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.K1233Q|CDH24_ENST00000397359.3_5'Flank|ACIN1_ENST00000357481.2_Missense_Mutation_p.K488Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.K487Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1246	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		tcccgctccttGGCCCGTTCG	0.582																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3736-3738)Aag>Cag		apoptotic chromatin condensation inducer 1							96	83	87					14																	23528647		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23528647T>G	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.3736A>C	14.37:g.23528647T>G	ENSP00000262710:p.Lys1246Gln					ACIN1_ENST00000457657.1_Missense_Mutation_p.K1206Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.K1188Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.K1233Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.K487Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.K488Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.K519Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.K488Q	p.K1246Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	19	4063	-	all_cancers(95;1.36e-05)		1246			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3736A>C	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476246	0.44044	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.18	4.18	0.49190	.	0.336627	0.21615	N	0.071728	T	0.33933	0.0880	L	0.29908	0.895	0.42293	D	0.992148	P;P;P;P;P	0.51351	0.944;0.906;0.906;0.476;0.476	P;B;B;B;B	0.47470	0.548;0.346;0.346;0.071;0.071	T	0.03795	-1.1003	10	0.23302	T	0.38	-11.8368	9.4065	0.38464	0.0:0.0:0.1791:0.8209	.	1233;1246;1206;519;488	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	Q	487;519;488;1246;1206;488;1233	ENSP00000451138:K487Q;ENSP00000345541:K519Q;ENSP00000350073:K488Q;ENSP00000262710:K1246Q;ENSP00000405677:K1206Q;ENSP00000380502:K488Q;ENSP00000451328:K1233Q	ENSP00000262710:K1246Q	K	-	1	0	ACIN1	22598487	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.190000	0.58365	1.881000	0.54492	0.379000	0.24179	AAG		0.582	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		54	178	0	0	0	1	0	54	178					G	23528647	T	G	23528647	3	3	103	1	0	0	0	0	1	0	0	0	142	1821	63	4	293	4	ACIN1	14	23528647	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08		23528647	83820893	105	35316											
ZFYVE26	23503	broad.mit.edu	37	chr14	68249561	68249561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcgtccacatctcgcccGtacacttcagtgagctgaag	8	13	2	2	rs369590424		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:68249561G>A	ENST00000347230.4	-	21	4446	c.4308C>T	c.(4306-4308)taC>taT	p.Y1436Y	ZFYVE26_ENST00000555452.1_Silent_p.Y1436Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1436					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)		CATCTCGCCCGTACACTTCAG	0.527																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4306-4308)taC>taT		zinc finger, FYVE domain containing 26		G		0,4406		0,0,2203	136	137	137		4308	-3.6	1	14		137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFYVE26	NM_015346.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1436/2540	68249561	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68249561G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4308C>T	14.37:g.68249561G>A						ZFYVE26_ENST00000555452.1_Silent_p.Y1436Y	p.Y1436Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	4446	-			1436					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.4308C>T	CCDS9788.1																																																																																				0.527	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		6	639	0	0	0	1	0	6	639					A	68249561	G	A	68249561	2	1	103	1	0	0	0	0	0	0	0	1	17721	1140	40	1		1	ZFYVE26	14	68249561	Silent	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	44720914	68249561	39099979	106	35317											
PTPN21	11099	broad.mit.edu	37	chr14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-													tctcctcctcgaagtcctcgTcctcctcctcctcgctgctg					rs201949704|rs370943979		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				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						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				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						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	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.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			7	143						7	143	---	---	---	---	-	88945630	TCC	-	88945628	7	5	103	1	0	1	0	1	0	0	0	0	12836	1667	58	0	1405	0	PTPN21	14	88945628	In_Frame_Del	DEL	TCC	TCGA-LB-A8F3-01A-11D-A36O-08	20696067	88945628	18403912	107	35318											
AMFR	267	broad.mit.edu	37	chr16	56401435	56401435	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgcaggtctgatgctatctGaccgctggaagagaaacagt	12	8	2	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:56401435G>A	ENST00000290649.5	-	12	1730	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	507					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						GATGCTATCTGACCGCTGGAA	0.498																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1519-1521)tCa>tTa		autocrine motility factor receptor, E3 ubiquitin protein ligase							258	242	248					16																	56401435		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56401435G>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1520C>T	16.37:g.56401435G>A	ENSP00000290649:p.Ser507Leu						p.S507L	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			12	1730	-			507					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1520C>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241135	0.39598	.	.	ENSG00000159461	ENST00000290649	T	0.14266	2.52	5.8	5.8	0.92144	.	0.647010	0.15443	N	0.262073	T	0.15825	0.0381	L	0.44542	1.39	0.39616	D	0.96996	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.07424	-1.0773	10	0.27785	T	0.31	-7.4232	18.2436	0.89977	0.0:0.0:1.0:0.0	.	507;156	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	L	507	ENSP00000290649:S507L	ENSP00000290649:S507L	S	-	2	0	AMFR	54958936	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	4.726000	0.61986	2.735000	0.93741	0.655000	0.94253	TCA		0.498	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			25	1009	0	0	0	1	0	25	1009					A	56401435	G	A	56401435	3	1	103	1	0	0	0	0	1	0	0	0	571	1294	45	2	423	2	AMFR	16	56401435	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08		56401435	33953318	108	35319											
NLRC5	84166	broad.mit.edu	37	chr16	57075463	57075463	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaggctctgggaggaagctgCcacctcggtcacctccacct	11	15	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:57075463C>G	ENST00000262510.6	+	18	3231	c.3006C>G	c.(3004-3006)tgC>tgG	p.C1002W	NLRC5_ENST00000436936.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000539144.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000308149.7_Missense_Mutation_p.C1002W	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1002					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)				GAGGAAGCTGCCACCTCGGTC	0.552																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3004-3006)tgC>tgG		NLR family, CARD domain containing 5							79	74	76					16																	57075463		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57075463C>G	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.3006C>G	16.37:g.57075463C>G	ENSP00000262510:p.Cys1002Trp					NLRC5_ENST00000262510.6_Missense_Mutation_p.C1002W|NLRC5_ENST00000539144.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000308149.7_Missense_Mutation_p.C1002W	p.C1002W			Q86WI3	NLRC5_HUMAN			18	3231	+		all_neural(199;0.225)	1002					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3006C>G	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.80|11.80	1.746925|1.746925	0.30955|0.30955	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030|ENST00000538805	T;T;T;T;T;T|.	0.54479|.	0.57;0.57;0.57;0.57;0.57;0.57|.	3.98|3.98	-2.66|-2.66	0.06077|0.06077	.|.	1.053610|.	0.07584|.	N|.	0.920873|.	T|T	0.38081|0.38081	0.1027|0.1027	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	D;D;D;D|.	0.57571|.	0.966;0.972;0.98;0.978|.	P;P;P;P|.	0.56474|.	0.62;0.697;0.706;0.799|.	T|T	0.40403|0.40403	-0.9565|-0.9565	10|5	0.49607|.	T|.	0.09|.	.|.	4.9157|4.9157	0.13844|0.13844	0.0:0.3487:0.1617:0.4897|0.0:0.3487:0.1617:0.4897	.|.	1002;1002;1002;1002|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	W|A	1002;1002;1002;476;1002;509;301|755	ENSP00000262510:C1002W;ENSP00000308886:C1002W;ENSP00000389739:C1002W;ENSP00000441727:C1002W;ENSP00000441597:C509W;ENSP00000440153:C301W|.	ENSP00000262510:C1002W|.	C|P	+|+	3|1	2|0	NLRC5|NLRC5	55632964|55632964	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.263000|0.263000	0.26337|0.26337	-0.740000|-0.740000	0.04861|0.04861	-0.493000|-0.493000	0.06678|0.06678	-0.136000|-0.136000	0.14681|0.14681	TGC|CCA		0.552	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		27	176	0	0	0	1	0	27	176					G	57075463	C	G	57075463	3	3	103	1	0	0	0	0	1	0	0	0	10512	747	26	5	3068	5	NLRC5	16	57075463	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	674028	57075463	33279290	109	35320											
PMFBP1	83449	broad.mit.edu	37	chr16	72162994	72162994	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttaaattcctgccGcaaagcttcaagttctccct	4	12	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:72162994G>A	ENST00000237353.10	-	13	2182	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R646W|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R496W	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	646						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)				AATTCCTGCCGCAAAGCTTCA	0.527																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(1936-1938)Cgg>Tgg		polyamine modulated factor 1 binding protein 1							199	203	202					16																	72162994		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72162994G>A	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.1921C>T	16.37:g.72162994G>A	ENSP00000237353:p.Arg641Trp					PMFBP1_ENST00000237353.10_Missense_Mutation_p.R641W|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R496W	p.R646W			Q8TBY8	PMFBP_HUMAN			13	2094	-		Ovarian(137;0.179)	646					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.1936C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631994	0.29068	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13778	2.56;2.57;2.57	4.55	2.57	0.30868	.	1.083320	0.07212	N	0.859465	T	0.22166	0.0534	L	0.32530	0.975	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.56916	0.809;0.742;0.809	T	0.30208	-0.9986	10	0.87932	D	0	0.3743	10.0488	0.42203	0.0:0.0:0.6493:0.3507	.	646;641;646	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	W	646;641;496	ENSP00000443817:R646W;ENSP00000237353:R641W;ENSP00000347854:R496W	ENSP00000237353:R641W	R	-	1	2	PMFBP1	70720495	0.018000	0.18449	0.001000	0.08648	0.001000	0.01503	1.717000	0.37991	0.829000	0.34733	-0.953000	0.02652	CGG		0.527	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		6	929	0	0	0	1	0	6	929					A	72162994	G	A	72162994	3	1	103	1	0	0	0	0	1	0	0	0	12176	1086	38	1	1198	1	PMFBP1	16	72162994	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	15087531	72162994	18191759	110	35321											
RAI1	10743	broad.mit.edu	37	chr17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-													gaacctggtcttgcggagccGcagcagcagcagcagcaacg							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				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)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	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.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		7	175						7	175	---	---	---	---	-	17699995	GCA	-	17699993	7	5	103	1	0	1	0	1	0	0	0	0	13057	1087	38	0	3733	0	RAI1	17	17699993	In_Frame_Del	DEL	GCA	TCGA-LB-A8F3-01A-11D-A36O-08		17699993	63495217	111	35322											
CDC27	996	broad.mit.edu	37	chr17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacagttgctaaagttctgtAaagatgtgaatttaaatgtt	9	3	1	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000527547.1_Missense_Mutation_p.L173S|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					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.L173S(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						AAAGTTCTGTAAAGATGTGAA	0.383																																						ENST00000066544.3																			1	Substitution - Missense(1)	p.L173S(1)	NS(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						c.(517-519)tTa>tCa		cell division cycle 27							77	77	77					17																	45234708		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45234708A>G	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.518T>C	17.37:g.45234708A>G	ENSP00000066544:p.Leu173Ser					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S	p.L173S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			6	611	-			173					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.518T>C	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.822437	0.50739	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.69175	-0.37;-0.34;-0.17;-0.38;0.74	5.39	5.39	0.77823	.	0.250879	0.32328	N	0.006250	T	0.52980	0.1768	L	0.29908	0.895	0.50313	D	0.99986	P;B;B;B	0.38250	0.624;0.119;0.057;0.072	B;B;B;B	0.34590	0.186;0.143;0.083;0.062	T	0.54241	-0.8323	10	0.33141	T	0.24	-12.8267	13.3763	0.60741	1.0:0.0:0.0:0.0	.	112;173;173;173	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	173;173;112;173;173	ENSP00000066544:L173S;ENSP00000434614:L173S;ENSP00000392802:L112S;ENSP00000437339:L173S;ENSP00000432105:L173S	ENSP00000066544:L173S	L	-	2	0	CDC27	42589707	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.315000	0.89983	2.053000	0.61076	0.528000	0.53228	TTA		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			5	326	0	0	0	1	0	5	326					G	45234708	A	G	45234708	3	3	103	1	0	0	0	0	1	0	0	0	3075	372	13	4	2030	4	CDC27	17	45234708	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	27534715	45234708	35960502	112	35323											
TMEM104	54868	broad.mit.edu	37	chr17	72832228	72832228	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	atccctcattacccccgtctCctccaagcgccacctcacaa	3	21	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:72832228C>G	ENST00000335464.5	+	10	1055	c.893C>G	c.(892-894)tCc>tGc	p.S298C	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.S298C|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	298						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCCCCGTCTCCTCCAAGCGC	0.622																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(892-894)tCc>tGc		transmembrane protein 104							197	142	161					17																	72832228		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832228C>G	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.893C>G	17.37:g.72832228C>G	ENSP00000334849:p.Ser298Cys					TMEM104_ENST00000582330.1_Missense_Mutation_p.S298C|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	p.S298C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1055	+	all_lung(278;0.23)		298					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.893C>G	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870313	0.72065	.	.	ENSG00000109066	ENST00000335464	T	0.02369	4.32	5.21	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00482	-1.1713	10	0.72032	D	0.01	-45.754	13.9219	0.63937	0.0:0.9256:0.0:0.0744	.	298	Q8NE00	TM104_HUMAN	C	298	ENSP00000334849:S298C	ENSP00000334849:S298C	S	+	2	0	TMEM104	70343823	1.000000	0.71417	0.949000	0.38748	0.895000	0.52256	7.384000	0.79751	1.319000	0.45190	0.561000	0.74099	TCC		0.622	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		32	286	0	0	0	1	0	32	286					G	72832228	C	G	72832228	3	3	103	1	0	0	0	0	1	0	0	0	16070	855	30	5	927	5	TMEM104	17	72832228	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	27597520	72832228	8362982	113	35324											
TLE2	7089	broad.mit.edu	37	chr19	3002419	3002419	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggtatttctccggcttgCggacgtgcaggatctccacg	13	12	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:3002419C>T	ENST00000262953.6	-	18	2241	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	TLE2_ENST00000590536.1_Missense_Mutation_p.R661H|TLE2_ENST00000591529.1_Missense_Mutation_p.R674H|TLE2_ENST00000443826.3_Missense_Mutation_p.R538H|TLE2_ENST00000426948.2_Missense_Mutation_p.R674H|TLE2_ENST00000447365.2_Missense_Mutation_p.R327H|TLE2_ENST00000455444.2_Missense_Mutation_p.R538H|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	660				R -> G (in Ref. 1; AAA61193). {ECO:0000305}.	negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid 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)		CTCCGGCTTGCGGACGTGCAG	0.617																																						ENST00000262953.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1978-1980)cGc>cAc		transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)							28	32	31					19																	3002419		2178	4296	6474	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3002419C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1979G>A	19.37:g.3002419C>T	ENSP00000262953:p.Arg660His					TLE2_ENST00000426948.2_Missense_Mutation_p.R674H|TLE2_ENST00000590536.1_Missense_Mutation_p.R661H|TLE2_ENST00000591529.1_Missense_Mutation_p.R674H|TLE2_ENST00000455444.2_Missense_Mutation_p.R538H|TLE2_ENST00000443826.3_Missense_Mutation_p.R538H|TLE2_ENST00000447365.2_Missense_Mutation_p.R327H|TLE2_ENST00000586422.1_Intron	p.R660H	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2241	-			660	R -> G (in Ref. 1; AAA61193).				B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.1979G>A	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115899	0.37339	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	3.79	3.79	0.43588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.130101	0.52532	D	0.000070	T	0.07999	0.0200	N	0.04880	-0.145	0.35702	D	0.815685	D;P;B;D;D	0.56287	0.975;0.859;0.102;0.975;0.975	B;B;B;P;P	0.45232	0.375;0.172;0.13;0.474;0.474	T	0.20806	-1.0264	10	0.87932	D	0	-10.9012	9.5891	0.39534	0.0:0.7853:0.2147:0.0	.	538;327;674;538;660	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	H	660;538;209;654;327;538;674	ENSP00000262953:R660H;ENSP00000413107:R538H;ENSP00000406523:R327H;ENSP00000392427:R538H;ENSP00000392869:R674H	ENSP00000262953:R660H	R	-	2	0	TLE2	2953419	0.999000	0.42202	0.973000	0.42090	0.829000	0.46940	3.176000	0.50863	2.128000	0.65567	0.455000	0.32223	CGC		0.617	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		5	103	0	0	0	1	0	5	103					T	3002419	C	T	3002419	3	4	103	1	0	0	0	0	1	0	0	0	15991	768	27	1	264	1	TLE2	19	3002419	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		3002419	56126564	114	35325											
ANKRD24	170961	broad.mit.edu	37	chr19	4216640	4216640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tctatgactctctccgggccGagtttgaccagctacgcagg	11	13	2	2	rs373345481		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:4216640G>A	ENST00000600132.1	+	18	1759	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E495K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E585K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	495										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)		TCTCCGGGCCGAGTTTGACCA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		20483	0.0		0.001	False		,,,				2504	0.0					ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(1483-1485)Gag>Aag		ankyrin repeat domain 24		G	LYS/GLU	0,4002		0,0,2001	28	29	29		1483	4.6	0.9	19		29	1,8337		0,1,4168	no	missense	ANKRD24	NM_133475.1	56	0,1,6169	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	495/1147	4216640	1,12339	2001	4169	6170	SO:0001583	missense	170961							g.chr19:4216640G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1483G>A	19.37:g.4216640G>A	ENSP00000471252:p.Glu495Lys					ANKRD24_ENST00000262970.5_Missense_Mutation_p.E585K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E495K	p.E495K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	1759	+			495					O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	c.1483G>A	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.362717	0.82353	0.0	1.2E-4	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.71817	0.38;-0.6	4.6	4.6	0.57074	.	0.000000	0.34460	N	0.003942	T	0.75213	0.3819	L	0.29908	0.895	0.45415	D	0.998398	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.74968	-0.3483	10	0.39692	T	0.17	-25.7121	14.5191	0.67840	0.0:0.0:1.0:0.0	.	495;585	Q8TF21;Q8TF21-2	ANR24_HUMAN;.	K	495;585	ENSP00000321731:E495K;ENSP00000262970:E585K	ENSP00000262970:E585K	E	+	1	0	ANKRD24	4167640	1.000000	0.71417	0.899000	0.35326	0.825000	0.46686	5.855000	0.69510	2.288000	0.76882	0.313000	0.20887	GAG		0.607	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		7	42	0	0	0	1	0	7	42					A	4216640	G	A	4216640	3	1	103	1	0	0	0	0	1	0	0	0	653	1059	37	1	1549	1	ANKRD24	19	4216640	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	1214221	4216640	54912343	115	35326											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	186						7	186	---	---	---	---	-	6531151	GCT	-	6531149	7	5	103	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-LB-A8F3-01A-11D-A36O-08	2314509	6531149	52597834	116	35327											
ACTL9	284382	broad.mit.edu	37	chr19	8807880	8807880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaggactggaaggcgCgcagggaggccaggatggag	19	10	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:8807880C>T	ENST00000324436.3	-	1	1292	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	391						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						CTGGAAGGCGCGCAGGGAGGC	0.652																																						ENST00000324436.3																			0				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						c.(1171-1173)cGc>cAc		actin-like 9							38	40	39					19																	8807880		2203	4299	6502	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807880C>T		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.1172G>A	19.37:g.8807880C>T	ENSP00000316674:p.Arg391His						p.R391H	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1292	-			391					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1172G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	12.78	2.040034	0.35989	.	.	ENSG00000181786	ENST00000324436	T	0.07800	3.16	4.51	2.32	0.28847	.	0.317190	0.22565	U	0.058402	T	0.05456	0.0144	N	0.20845	0.615	0.25834	N	0.984134	B	0.25521	0.128	B	0.23419	0.046	T	0.30650	-0.9971	10	0.87932	D	0	.	7.217	0.25965	0.0:0.5778:0.3287:0.0934	.	391	Q8TC94	ACTL9_HUMAN	H	391	ENSP00000316674:R391H	ENSP00000316674:R391H	R	-	2	0	ACTL9	8668880	0.005000	0.15991	0.279000	0.24732	0.748000	0.42578	0.594000	0.24014	0.592000	0.29728	0.457000	0.33378	CGC		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		36	218	0	0	0	1	0	36	218					T	8807880	C	T	8807880	3	4	103	1	0	0	0	0	1	0	0	0	203	768	27	1	82	1	ACTL9	19	8807880	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2276731	8807880	50321103	117	35328											
ANKRD27	84079	broad.mit.edu	37	chr19	33134064	33134064	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	acaccaatatctttctgctgAagatcttgaaggcttcttgt	7	9	4	3			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:33134064A>T	ENST00000306065.4	-	9	905	c.747T>A	c.(745-747)ctT>ctA	p.L249L	ANKRD27_ENST00000587352.1_Silent_p.L249L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	249	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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)					CTTTCTGCTGAAGATCTTGAA	0.473																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(745-747)ctT>ctA		ankyrin repeat domain 27 (VPS9 domain)							125	126	126					19																	33134064		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33134064A>T	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.747T>A	19.37:g.33134064A>T						ANKRD27_ENST00000587352.1_Silent_p.L249L	p.L249L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			9	905	-	Esophageal squamous(110;0.137)		249			VPS9.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.747T>A	CCDS32986.1																																																																																				0.473	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		14	409	0	0	0	1	0	14	409					T	33134064	A	T	33134064	2	4	103	1	0	0	0	0	0	0	0	1	655	233	9	5		5	ANKRD27	19	33134064	Silent	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	24326184	33134064	25994919	118	35329											
FCGBP	8857	broad.mit.edu	37	chr19	40362824	40362824	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggctttgtcacccttttgCgcgcacaggtcgtatacgca	10	12	1	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:40362824C>T	ENST00000221347.6	-	32	15253	c.15246G>A	c.(15244-15246)gcG>gcA	p.A5082A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5082						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)			CACCCTTTTGCGCGCACAGGT	0.667																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(15244-15246)gcG>gcA		Fc fragment of IgG binding protein							98	99	99					19																	40362824		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40362824C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15246G>A	19.37:g.40362824C>T							p.A5082A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		32	15253	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5082					O95784	Silent	SNP	ENST00000221347.6	37	c.15246G>A	CCDS12546.1																																																																																				0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	609	0	0	0	1	0	6	609					T	40362824	C	T	40362824	2	4	103	1	0	0	0	0	0	0	0	1	5803	755	27	1		1	FCGBP	19	40362824	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	7228760	40362824	18766159	119	35330											
PNMAL1	55228	broad.mit.edu	37	chr19	46973195	46973197	+	In_Frame_Del	DEL	CTT	CTT	-													gagacagggcccaagctcacCttcttcttcttcctcatggg							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:46973195_46973197delCTT	ENST00000313683.10	-	2	1401_1403	c.1096_1098delAAG	c.(1096-1098)aagdel	p.K366del	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	366										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAAGCTCACCTTCTTCTTCTTC	0.562																																						ENST00000313683.10																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1096-1098)del		paraneoplastic Ma antigen family-like 1																																				SO:0001651	inframe_deletion	55228							g.chr19:46973195_46973197delCTT	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1096_1098delAAG	19.37:g.46973204_46973206delCTT	ENSP00000318131:p.Lys366del					PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice	p.K366del	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	2	1401_1403	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	366					A8K2F3|Q5U638|Q8N3H4|Q9NVE8	In_Frame_Del	DEL	ENST00000313683.10	37	c.1096_1098delAAG	CCDS33059.1																																																																																				0.562	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215		8	950						8	950	---	---	---	---	-	46973197	CTT	-	46973195	7	5	103	1	0	1	0	1	0	0	0	0	12199	695	24	0	251	0	PNMAL1	19	46973195	In_Frame_Del	DEL	CTT	TCGA-LB-A8F3-01A-11D-A36O-08	6610371	46973195	12155788	120	35331											
TEAD2	8463	broad.mit.edu	37	chr19	49845730	49845730	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gttttccaggacgctgttcaTcatgtatcgctcaggcagct	10	11	3	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:49845730T>A	ENST00000311227.2	-	11	1285	c.1195A>T	c.(1195-1197)Atg>Ttg	p.M399L	CTC-301O7.4_ENST00000358234.4_lincRNA|TEAD2_ENST00000598810.1_Missense_Mutation_p.M403L|TEAD2_ENST00000539846.1_Missense_Mutation_p.M271L|TEAD2_ENST00000593945.1_Missense_Mutation_p.M403L|TEAD2_ENST00000601519.1_Missense_Mutation_p.M402L|TEAD2_ENST00000377214.4_Missense_Mutation_p.M402L	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	399	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACGCTGTTCATCATGTATCGC	0.587																																						ENST00000377214.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29						c.(1204-1206)Atg>Ttg		TEA domain family member 2							73	68	69					19																	49845730		2203	4300	6503	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49845730T>A	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.1195A>T	19.37:g.49845730T>A	ENSP00000310701:p.Met399Leu					TEAD2_ENST00000593945.1_Missense_Mutation_p.M403L|TEAD2_ENST00000539846.1_Missense_Mutation_p.M271L|TEAD2_ENST00000598810.1_Missense_Mutation_p.M403L|TEAD2_ENST00000311227.2_Missense_Mutation_p.M399L|TEAD2_ENST00000601519.1_Missense_Mutation_p.M402L	p.M402L			Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	10	1566	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	399			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.1204A>T	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341581	0.81911	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.33438	1.41;1.41;1.41	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.30510	0.0767	L	0.49571	1.57	0.80722	D	1	B;B;B	0.16396	0.003;0.017;0.0	B;B;B	0.27608	0.01;0.081;0.002	T	0.21143	-1.0254	10	0.87932	D	0	-25.0067	11.3375	0.49513	0.0:0.0:0.0:1.0	.	271;399;402	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	L	399;402;271	ENSP00000310701:M399L;ENSP00000366419:M402L;ENSP00000437928:M271L	ENSP00000310701:M399L	M	-	1	0	TEAD2	54537542	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.971000	0.88012	1.730000	0.51580	0.496000	0.49642	ATG		0.587	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1	NM_003598		27	284	0	0	0	1	0	27	284					A	49845730	T	A	49845730	3	1	103	1	0	0	0	0	1	0	0	0	15791	1435	50	5	156	5	TEAD2	19	49845730	Missense_Mutation	SNP	T	TCGA-LB-A8F3-01A-11D-A36O-08	2872535	49845730	9283253	121	35332											
ZNF304	57343	broad.mit.edu	37	chr19	57868610	57868610	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgggaaggcctttggctGcaaagacacacttgttcagc	12	9	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:57868610G>A	ENST00000282286.5	+	3	1546	c.1373G>A	c.(1372-1374)tGc>tAc	p.C458Y	ZNF304_ENST00000391705.3_Missense_Mutation_p.C458Y|ZNF304_ENST00000443917.2_Missense_Mutation_p.C505Y|ZNF304_ENST00000598744.1_Missense_Mutation_p.C416Y			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	458					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)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		GCCTTTGGCTGCAAAGACACA	0.478																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(1372-1374)tGc>tAc		zinc finger protein 304							85	82	83					19																	57868610		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57868610G>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1373G>A	19.37:g.57868610G>A	ENSP00000282286:p.Cys458Tyr					ZNF304_ENST00000598744.1_Missense_Mutation_p.C416Y|ZNF304_ENST00000282286.5_Missense_Mutation_p.C458Y|ZNF304_ENST00000443917.2_Missense_Mutation_p.C505Y	p.C458Y	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	1657	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	458						Missense_Mutation	SNP	ENST00000282286.5	37	c.1373G>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	3.046	-0.196350	0.06259	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.06371	3.31;3.31;3.31	3.77	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08846	0.0219	N	0.17379	0.485	0.09310	N	1	D;D	0.65815	0.995;0.989	D;P	0.68621	0.959;0.854	T	0.05007	-1.0912	9	0.02654	T	1	.	11.3405	0.49531	0.0948:0.0:0.9052:0.0	.	458;505	Q9HCX3;E7EQD3	ZN304_HUMAN;.	Y	458;458;505	ENSP00000282286:C458Y;ENSP00000375586:C458Y;ENSP00000401642:C505Y	ENSP00000282286:C458Y	C	+	2	0	ZNF304	62560422	0.000000	0.05858	0.214000	0.23707	0.991000	0.79684	0.318000	0.19504	1.171000	0.42768	0.650000	0.86243	TGC		0.478	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			5	433	0	0	0	1	0	5	433					A	57868610	G	A	57868610	3	1	103	1	0	0	0	0	1	0	0	0	17886	1319	46	2	1383	2	ZNF304	19	57868610	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	8022880	57868610	1260373	122	35333											
GDF5	8200	broad.mit.edu	37	chr20	34022447	34022448	+	Frame_Shift_Ins	INS	-	-	G													tgggcagcccgcccgcctccINSgggggccgctggcttggccg							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:34022447_34022448insG	ENST00000374372.1	-	4	1268_1269	c.765_766insC	c.(763-768)cccggafs	p.G256fs	GDF5_ENST00000374369.3_Frame_Shift_Ins_p.G256fs|GDF5OS_ENST00000374375.1_Frame_Shift_Ins_p.PG164fs			P43026	GDF5_HUMAN	growth differentiation factor 5	256				APGGG -> VPRSR (in Ref. 2; AAA57007). {ECO:0000305}.	cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGCCCGCCTCCGGGGGCCGCTG	0.698																																						ENST00000374372.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26						c.(763-768)ccgaggfs		growth differentiation factor 5																																				SO:0001589	frameshift_variant	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34022447_34022448insG	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.766dupC	20.37:g.34022452_34022452dupG	ENSP00000363492:p.Gly256fs					GDF5OS_ENST00000374375.1_Frame_Shift_Ins_p.R164fs|GDF5_ENST00000374369.3_Frame_Shift_Ins_p.R256fs	p.R256fs			P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		4	1268_1269	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		256	APGGG -> VPRSR (in Ref. 2; AAA57007).				E1P5Q2|Q96SB1	Frame_Shift_Ins	INS	ENST00000374372.1	37	c.765_766insC	CCDS13254.1																																																																																				0.698	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			8	262						8	262	---	---	---	---	G	34022448	-	G	34022447	7	5	103	1	0	1	1	0	0	0	0	0	6345	661	23	0	743	0	GDF5	20	34022447	Frame_Shift_Ins	INS	-	TCGA-LB-A8F3-01A-11D-A36O-08		34022447	29003073	123	35334											
RBPJL	11317	broad.mit.edu	37	chr20	43943060	43943060	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttccattgcagatcatccGtaaagtagcaaaacagtgtg	8	10	1	1	rs377003156		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:43943060G>A	ENST00000343694.3	+	9	947	c.875G>A	c.(874-876)cGt>cAt	p.R292H	RBPJL_ENST00000372741.3_Missense_Mutation_p.R292H|RBPJL_ENST00000372743.1_Missense_Mutation_p.R292H|RBPJL_ENST00000464504.1_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	292					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)				CAGATCATCCGTAAAGTAGCA	0.572																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(874-876)cGt>cAt		recombination signal binding protein for immunoglobulin kappa J region-like		G	HIS/ARG	0,4406		0,0,2203	168	149	156		875	5	1	20		156	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBPJL	NM_014276.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	292/518	43943060	1,13005	2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43943060G>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.875G>A	20.37:g.43943060G>A	ENSP00000341243:p.Arg292His					RBPJL_ENST00000372743.1_Missense_Mutation_p.R292H|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.R292H	p.R292H	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			9	947	+		Myeloproliferative disorder(115;0.0122)	292					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.875G>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701078	0.68501	0.0	1.16E-4	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	T;T;T	0.35605	1.3;1.3;1.3	5.03	5.03	0.67393	Beta-trefoil (2);	0.000000	0.64402	D	0.000001	T	0.58566	0.2131	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	0.58640	-0.7601	10	0.52906	T	0.07	-28.9178	17.5316	0.87816	0.0:0.0:1.0:0.0	.	292;292	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	H	292	ENSP00000361828:R292H;ENSP00000361826:R292H;ENSP00000341243:R292H	ENSP00000341243:R292H	R	+	2	0	RBPJL	43376474	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	9.088000	0.94132	2.607000	0.88179	0.563000	0.77884	CGT		0.572	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		5	508	0	0	0	1	0	5	508					A	43943060	G	A	43943060	3	1	103	1	0	0	0	0	1	0	0	0	13212	1145	40	1	909	1	RBPJL	20	43943060	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	9920613	43943060	19082460	124	35335											
SLC12A5	57468	broad.mit.edu	37	chr20	44675062	44675062	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaactggaggccacgctttCgatattaccactggtgggtg	12	11	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:44675062C>T	ENST00000454036.2	+	14	1892	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.R592*	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	615					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)	GCCACGCTTTCGATATTACCA	0.552																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1843-1845)Cga>Tga		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						113	96	102					20																	44675062		2203	4300	6503	SO:0001587	stop_gained	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44675062C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1843C>T	20.37:g.44675062C>T	ENSP00000387694:p.Arg615*					SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.R592*|SLC12A5_ENST00000539566.1_3'UTR	p.R615*	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			14	1919	+		Myeloproliferative disorder(115;0.0122)	615					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Nonsense_Mutation	SNP	ENST00000454036.2	37	c.1843C>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	38	7.042841	0.98021	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	.	.	.	4.33	4.33	0.51752	.	0.075781	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.9059	0.47079	0.1878:0.8122:0.0:0.0	.	.	.	.	X	615;592	.	ENSP00000243964:R592X	R	+	1	2	SLC12A5	44108469	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.103000	0.57783	2.253000	0.74438	0.467000	0.42956	CGA		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			13	357	0	0	0	1	0	13	357					T	44675062	C	T	44675062	4	4	103	1	0	0	0	0	0	1	0	0	14436	876	31	1	1953	1	SLC12A5	20	44675062	Nonsense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	732002	44675062	18350458	125	35336											
ZMYND8	23613	broad.mit.edu	37	chr20	45853160	45853160	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcacctcggcgatgagCcggtcccgctcctgctccag	10	17	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:45853160C>T	ENST00000311275.7	-	19	3259	c.3006G>A	c.(3004-3006)cgG>cgA	p.R1002R	ZMYND8_ENST00000461685.1_Silent_p.R976R|ZMYND8_ENST00000396281.4_Silent_p.R1002R|ZMYND8_ENST00000355972.4_Silent_p.R1002R|ZMYND8_ENST00000458360.2_Silent_p.R870R|ZMYND8_ENST00000352431.2_Silent_p.R976R|ZMYND8_ENST00000536340.1_Silent_p.R1029R|ZMYND8_ENST00000262975.4_Silent_p.R956R|ZMYND8_ENST00000372023.3_Silent_p.R924R|ZMYND8_ENST00000471951.2_Silent_p.R1022R|ZMYND8_ENST00000540497.1_Silent_p.R950R|ZMYND8_ENST00000446994.2_Silent_p.R893R|ZMYND8_ENST00000360911.3_Silent_p.R951R	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1002					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGCGATGAGCCGGTCCCGCT	0.627																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(3004-3006)cgG>cgA		zinc finger, MYND-type containing 8							130	115	120					20																	45853160		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45853160C>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3006G>A	20.37:g.45853160C>T						ZMYND8_ENST00000352431.2_Silent_p.R976R|ZMYND8_ENST00000471951.2_Silent_p.R1022R|ZMYND8_ENST00000262975.4_Silent_p.R956R|ZMYND8_ENST00000372023.3_Silent_p.R924R|ZMYND8_ENST00000540497.1_Silent_p.R950R|ZMYND8_ENST00000446994.2_Silent_p.R893R|ZMYND8_ENST00000536340.1_Silent_p.R1029R|ZMYND8_ENST00000360911.3_Silent_p.R951R|ZMYND8_ENST00000355972.4_Silent_p.R1002R|ZMYND8_ENST00000396281.4_Silent_p.R1002R|ZMYND8_ENST00000461685.1_Silent_p.R976R|ZMYND8_ENST00000458360.2_Silent_p.R870R	p.R1002R			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		19	3259	-			1002					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.3006G>A		.	.	.	.	.	.	.	.	.	.	C	9.689	1.151354	0.21371	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.45	1.09	0.20402	.	.	.	.	.	T	0.56352	0.1979	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51371	-0.8714	4	.	.	.	-4.7497	8.9868	0.35999	0.3025:0.4032:0.2943:0.0	.	.	.	.	T	884	.	.	A	-	1	0	ZMYND8	45286567	0.954000	0.32549	1.000000	0.80357	0.945000	0.59286	0.114000	0.15520	0.644000	0.30656	-0.181000	0.13052	GCT		0.627	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		6	646	0	0	0	1	0	6	646					T	45853160	C	T	45853160	2	4	103	1	0	0	0	0	0	0	0	1	17764	726	26	2		2	ZMYND8	20	45853160	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	1178098	45853160	17172360	126	35337											
BCAS1	8537	broad.mit.edu	37	chr20	52645037	52645037	+	Frame_Shift_Del	DEL	T	T	-													gttggctgtcacctggcaccTtttcctgtcccttgtccagc					rs143209009		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:52645037delT	ENST00000395961.3	-	4	783	c.617delA	c.(616-618)aagfs	p.K206fs	BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	206						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCTGGCACCTTTTCCTGTCC	0.552																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(616-618)agfs		breast carcinoma amplified sequence 1							227	209	215					20																	52645037		2203	4300	6503	SO:0001589	frameshift_variant	8537					cytoplasm	protein binding	g.chr20:52645037delT	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.617delA	20.37:g.52645037delT	ENSP00000379290:p.Lys206fs					BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs	p.K206fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	783	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		206					A0AVG5|Q68CZ3	Frame_Shift_Del	DEL	ENST00000395961.3	37	c.617delA	CCDS13444.1																																																																																				0.552	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		7	1189						7	1189	---	---	---	---	-	52645037	T	-	52645037	7	5	103	1	0	1	0	1	0	0	0	0	1351	1609	56	0	1173	0	BCAS1	20	52645037	Frame_Shift_Del	DEL	T	TCGA-LB-A8F3-01A-11D-A36O-08	6791877	52645037	10380483	127	35338											
OGFR	11054	broad.mit.edu	37	chr20	61444217	61444217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgaatttggaggggtGtgccctcagccagggcagcc	15	12	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:61444217G>A	ENST00000290291.6	+	7	1275	c.1250G>A	c.(1249-1251)tGt>tAt	p.C417Y	OGFR_ENST00000370461.1_Missense_Mutation_p.C365Y	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	417					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)					TTGGAGGGGTGTGCCCTCAGC	0.682																																						ENST00000370461.1																			0				endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17						c.(1093-1095)tGt>tAt		opioid growth factor receptor							40	46	44					20																	61444217		2199	4300	6499	SO:0001583	missense	11054				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity	g.chr20:61444217G>A	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.1250G>A	20.37:g.61444217G>A	ENSP00000290291:p.Cys417Tyr					OGFR_ENST00000370468.3_Missense_Mutation_p.C417Y|OGFR_ENST00000290291.6_Missense_Mutation_p.C417Y	p.C365Y			Q9NZT2	OGFR_HUMAN			5	3371	+	Breast(26;3.65e-08)		417					O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	c.1094G>A	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577779	0.45902	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.64085	0.56;0.05;-0.08	4.98	3.99	0.46301	.	0.131453	0.51477	D	0.000099	T	0.71685	0.3369	M	0.66939	2.045	0.09310	N	0.999996	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.57371	0.819;0.819;0.819	T	0.65434	-0.6169	10	0.72032	D	0.01	-13.4023	13.2842	0.60232	0.0:0.0:0.7181:0.2819	.	417;400;417	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	Y	417;417;417;272;365	ENSP00000290291:C417Y;ENSP00000359499:C417Y;ENSP00000359491:C365Y	ENSP00000290291:C417Y	C	+	2	0	OGFR	60914662	0.964000	0.33143	0.980000	0.43619	0.665000	0.39181	1.485000	0.35519	2.278000	0.76064	0.555000	0.69702	TGT		0.682	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			11	190	0	0	0	1	0	11	190					A	61444217	G	A	61444217	3	1	103	1	0	0	0	0	1	0	0	0	10885	1377	48	2	1276	2	OGFR	20	61444217	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	8799180	61444217	1581303	128	35339											
C21orf2	755	broad.mit.edu	37	chr21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctcagccaggctggggatgCggttcctccgcaggtacagc	15	13	1	0	rs140451304		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	73					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)		GCTGGGGATGCGGTTCCTCCG	0.677																																						ENST00000339818.4																			0				endometrium(2)	2						c.(217-219)cGc>cAc		chromosome 21 open reading frame 2							26	27	27					21																	45753071		2202	4300	6502	SO:0001583	missense	755							g.chr21:45753071C>T	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.218G>A	21.37:g.45753071C>T	ENSP00000344566:p.Arg73His					C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H	p.R73H	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN		Colorectal(79;0.0806)	4	425	-			73					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	c.218G>A	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164124	0.38217	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.09911	2.93;2.93;2.93	4.99	2.04	0.26737	.	0.730148	0.13311	N	0.397507	T	0.05960	0.0155	L	0.33245	0.995	0.09310	N	0.999998	B;P;B;B	0.36378	0.04;0.55;0.049;0.001	B;B;B;B	0.24541	0.007;0.054;0.011;0.001	T	0.34254	-0.9836	10	0.34782	T	0.22	-18.6603	4.4168	0.11461	0.17:0.583:0.0:0.247	.	73;73;73;32	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	H	73;109;73;73	ENSP00000344566:R73H;ENSP00000381047:R73H;ENSP00000317302:R73H	ENSP00000317302:R73H	R	-	2	0	C21orf2	44577499	0.135000	0.22499	0.996000	0.52242	0.789000	0.44602	-0.042000	0.12063	0.587000	0.29643	-0.126000	0.14955	CGC		0.677	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		4	96	0	0	0	1	0	4	96					T	45753071	C	T	45753071	3	4	103	1	0	0	0	0	1	0	0	0	2130	768	27	1	568	1	C21orf2	21	45753071	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		45753071	2376824	129	35340											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971146	45971146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagcctgattggcaggCgctgggctcacaggccgcct	16	13	1	1	rs200799981		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45971146C>G	ENST00000391621.1	-	1	242	c.196G>C	c.(196-198)Gcc>Ccc	p.A66P	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	66	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						GATTGGCAGGCGCTGGGCTCA	0.706																																						ENST00000391621.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(196-198)Gcc>Ccc		keratin associated protein 10-2							36	41	40					21																	45971146		2200	4287	6487	SO:0001583	missense	386679					keratin filament		g.chr21:45971146C>G	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"Keratin associated proteins"	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.196G>C	21.37:g.45971146C>G	ENSP00000375479:p.Ala66Pro					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	p.A66P	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN			1	242	-			66			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.196G>C	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	g	6.674	0.492977	0.12702	.	.	ENSG00000205445	ENST00000391621	T	0.00649	5.98	2.06	-0.617	0.11579	.	.	.	.	.	T	0.00178	0.0005	N	0.00088	-2.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40776	-0.9545	9	0.21014	T	0.42	.	1.7359	0.02941	0.147:0.1947:0.4614:0.1969	.	66	P60368	KR102_HUMAN	P	66	ENSP00000375479:A66P	ENSP00000375479:A66P	A	-	1	0	KRTAP10-2	44795574	0.000000	0.05858	0.087000	0.20705	0.019000	0.09904	-0.687000	0.05156	-0.131000	0.11578	-0.671000	0.03813	GCC		0.706	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			5	400	0	0	0	1	0	5	400					G	45971146	C	G	45971146	3	3	103	1	0	0	0	0	1	0	0	0	8539	768	27	5	575	5	KRTAP10-2	21	45971146	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	218075	45971146	2158749	130	35341											
CECR1	51816	broad.mit.edu	37	chr22	17669277	17669277	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcttaacgccatccttggCggggatcatcagagcttcct	10	13	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:17669277C>T	ENST00000399839.1	-	7	1303	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	CECR1_ENST00000262607.3_Missense_Mutation_p.A345T|CECR1_ENST00000449907.2_Missense_Mutation_p.A303T|CECR1_ENST00000480276.1_5'Flank|CECR1_ENST00000399837.2_Missense_Mutation_p.A345T|CECR1_ENST00000330232.4_Missense_Mutation_p.A104T	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	345					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCATCCTTGGCGGGGATCATC	0.607																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(1033-1035)Gcc>Acc		cat eye syndrome chromosome region, candidate 1							96	78	84					22																	17669277		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17669277C>T	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1033G>A	22.37:g.17669277C>T	ENSP00000382733:p.Ala345Thr					CECR1_ENST00000330232.4_Missense_Mutation_p.A104T|CECR1_ENST00000399837.2_Missense_Mutation_p.A345T|CECR1_ENST00000449907.2_Missense_Mutation_p.A303T|CECR1_ENST00000262607.3_Missense_Mutation_p.A345T	p.A345T			Q9NZK5	CECR1_HUMAN			7	1303	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	345					A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.1033G>A	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	2.897	-0.228346	0.06022	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	4.24	-1.32	0.09201	Adenosine/AMP deaminase (1);	0.973928	0.08462	N	0.942354	T	0.68081	0.2962	L	0.38838	1.175	0.09310	N	1	B;B	0.20887	0.049;0.008	B;B	0.10450	0.005;0.002	T	0.49224	-0.8962	10	0.12766	T	0.61	.	3.2155	0.06697	0.2619:0.3322:0.0:0.406	.	345;104	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	T	345;104;345;303;345	ENSP00000382733:A345T;ENSP00000332871:A104T;ENSP00000262607:A345T;ENSP00000406443:A303T;ENSP00000382731:A345T	ENSP00000262607:A345T	A	-	1	0	CECR1	16049277	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.129000	0.15830	0.143000	0.18926	0.561000	0.74099	GCC		0.607	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			8	322	0	0	0	1	0	8	322					T	17669277	C	T	17669277	3	4	103	1	0	0	0	0	1	0	0	0	3214	768	27	1	518	1	CECR1	22	17669277	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		17669277	33635289	131	35342											
ACE2	59272	broad.mit.edu	37	chrX	15609901	15609901	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataatggcctcagctgcttgCcgacctcagatctccagctt	8	14	3	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:15609901C>T	ENST00000252519.3	-	4	620	c.518G>A	c.(517-519)gGc>gAc	p.G173D	ACE2_ENST00000427411.1_Missense_Mutation_p.G173D			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	173					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)	CAGCTGCTTGCCGACCTCAGA	0.438																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(517-519)gGc>gAc		angiotensin I converting enzyme 2	Moexipril(DB00691)						225	213	217					X																	15609901		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15609901C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.518G>A	X.37:g.15609901C>T	ENSP00000252519:p.Gly173Asp					ACE2_ENST00000252519.3_Missense_Mutation_p.G173D	p.G173D	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			5	734	-	Hepatocellular(33;0.183)		173					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.518G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235622	0.79800	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.54675	0.56;0.56	6.14	4.32	0.51571	.	0.100559	0.64402	D	0.000002	T	0.79851	0.4517	H	0.95645	3.7	0.37703	D	0.924291	D	0.69078	0.997	D	0.71870	0.975	D	0.87137	0.2200	10	0.87932	D	0	-12.7296	14.7704	0.69671	0.2632:0.7368:0.0:0.0	.	173	Q9BYF1	ACE2_HUMAN	D	173	ENSP00000252519:G173D;ENSP00000389326:G173D	ENSP00000252519:G173D	G	-	2	0	ACE2	15519822	1.000000	0.71417	0.959000	0.39883	0.955000	0.61496	5.243000	0.65395	0.660000	0.30964	0.596000	0.82720	GGC		0.438	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			7	1268	0	0	0	1	0	7	1268					T	15609901	C	T	15609901	3	4	103	1	0	0	0	0	1	0	0	0	137	739	26	2	1959	2	ACE2	23	15609901	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08		15609901	139660659	132	35343											
RAI2	10742	broad.mit.edu	37	chrX	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-													gccgttatttactttcttggAaaaaaggtggccagccgttg							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)tttfs	p.F527fs	RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1579-1581)ttfs		retinoic acid induced 2							182	201	195					X																	17818550		2203	4300	6503	SO:0001589	frameshift_variant	10742				embryo development			g.chrX:17818550delA	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1581delT	X.37:g.17818550delA	ENSP00000444210:p.Phe527fs					RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs	p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	2041	-	Hepatocellular(33;0.183)		527					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Del	DEL	ENST00000545871.1	37	c.1581delT	CCDS14183.1																																																																																				0.333	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		8	2212						8	2212	---	---	---	---	-	17818550	A	-	17818550	7	5	103	1	0	1	0	1	0	0	0	0	13059	243	9	0	15	0	RAI2	23	17818550	Frame_Shift_Del	DEL	A	TCGA-LB-A8F3-01A-11D-A36O-08	2208649	17818550	137452010	133	35344											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				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						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	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.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	167						7	167	---	---	---	---	-	21627680	GAG	-	21627678	7	5	103	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-LB-A8F3-01A-11D-A36O-08	3809128	21627678	133642882	134	35345											
ZNF645	158506	broad.mit.edu	37	chrX	22292216	22292216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acattttacctcagttcaccGaaaatcaagaaaccttgagc	5	11	3	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:22292216G>A	ENST00000323684.1	+	1	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	370					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCAGTTCACCGAAAATCAAGA	0.448																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1108-1110)Gaa>Aaa		zinc finger protein 645							126	103	111					X																	22292216		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292216G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.1108G>A	X.37:g.22292216G>A	ENSP00000323348:p.Glu370Lys						p.E370K	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	1152	+			370					A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.1108G>A	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921190	0.33908	.	.	ENSG00000175809	ENST00000323684	T	0.44881	0.91	2.9	2.03	0.26663	.	0.187414	0.44902	U	0.000420	T	0.44787	0.1310	L	0.50333	1.59	0.24531	N	0.994111	D	0.61080	0.989	P	0.54856	0.762	T	0.23547	-1.0185	10	0.46703	T	0.11	.	7.378	0.26839	0.143:0.0:0.857:0.0	.	370	Q8N7E2	ZN645_HUMAN	K	370	ENSP00000323348:E370K	ENSP00000323348:E370K	E	+	1	0	ZNF645	22202137	0.998000	0.40836	0.003000	0.11579	0.002000	0.02628	1.969000	0.40510	0.622000	0.30249	-0.191000	0.12829	GAA		0.448	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		31	404	0	0	0	1	0	31	404					A	22292216	G	A	22292216	3	1	103	1	0	0	0	0	1	0	0	0	18114	1059	37	1	1110	1	ZNF645	23	22292216	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	664538	22292216	132978344	135	35346											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	539	0	0	0	1	0	7	539					G	37028425	A	G	37028425	3	3	103	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	14736209	37028425	118242135	136	35347											
GPR34	2857	broad.mit.edu	37	chrX	41555137	41555137	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttctgggtattcaccGtaaaagaaattccattcaaa	6	7	3	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383																																						ENST00000378142.4																			1	Substitution - Missense(1)	p.R84H(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(250-252)cGt>cAt		G protein-coupled receptor 34							111	101	104					X																	41555137		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555137G>A	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.251G>A	X.37:g.41555137G>A	ENSP00000367384:p.Arg84His					CASK_ENST00000318588.9_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron	p.R84H	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN			3	535	+			84					O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.251G>A	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786249	0.49997	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.72942	-0.7;-0.7	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.199385	0.46758	D	0.000278	T	0.64238	0.2580	M	0.61703	1.905	0.31444	N	0.67163	P	0.50528	0.936	B	0.35688	0.208	T	0.76263	-0.3023	10	0.66056	D	0.02	-12.6129	12.7065	0.57063	0.0864:0.0:0.9136:0.0	.	84	Q9UPC5	GPR34_HUMAN	H	84;84;37	ENSP00000367384:R84H;ENSP00000367378:R84H	ENSP00000367378:R84H	R	+	2	0	GPR34	41440081	0.996000	0.38824	0.999000	0.59377	0.995000	0.86356	3.434000	0.52841	2.466000	0.83321	0.594000	0.82650	CGT		0.383	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		5	618	0	0	0	1	0	5	618					A	41555137	G	A	41555137	3	1	103	1	0	0	0	0	1	0	0	0	6718	1145	40	1	253	1	GPR34	23	41555137	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	4526712	41555137	113715423	137	35348											
FAM104B	90736	broad.mit.edu	37	chrX	55172537	55172537	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttggagcttgccctcGctgctgcaggctgttgaagt	13	10	1	1	rs1047054	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:55172537G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.R111*|FAM104B_ENST00000332132.4_Intron			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438																																						ENST00000425133.2																			5	Substitution - Nonsense(5)	p.R111*(5)	endometrium(3)|kidney(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(331-333)Cga>Tga		family with sequence similarity 104, member B							40	26	30					X																	55172537		692	1590	2282	SO:0001627	intron_variant	90736							g.chrX:55172537G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+76C>T	X.37:g.55172537G>A						FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*	p.R111*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	369	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	c.331C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937798	0.52972	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.59	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.26565	N	0.973663	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5036	0.11876	0.0:0.0:0.6198:0.3802	rs1047054;rs3175708;rs5003324	.	.	.	X	111;107;109	.	ENSP00000397188:R111X	R	-	1	2	FAM104B	55189262	0.997000	0.39634	0.180000	0.23079	0.415000	0.31203	1.026000	0.30103	0.126000	0.18424	0.429000	0.28392	CGA		0.438	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		4	158	0	0	0	1	0	4	158					A	55172537	G	A	55172537	1	1	103	0	1	0	0	0	0	0	0	0	5407	1095	38	1		1	FAM104B	23	55172537	Intron	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	13617400	55172537	100098023	138	35349											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	13	14	0	0	rs200185441		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		5	117	0	0	0	1	0	5	117					T	66765161	A	T	66765161	3	4	103	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	11592624	66765161	88505399	139	35350											
AWAT2	158835	broad.mit.edu	37	chrX	69261709	69261709	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataccaaacttggtcttatgCtggtcaaacagtttacgtag	8	8	2	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69261709C>T	ENST00000276101.3	-	7	956	c.951G>A	c.(949-951)caG>caA	p.Q317Q		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	317					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGGTCTTATGCTGGTCAAACA	0.488																																					NSCLC(80;1334 1436 9350 24214 26427)	ENST00000276101.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						c.(949-951)caG>caA		acyl-CoA wax alcohol acyltransferase 2							152	119	130					X																	69261709		2203	4300	6503	SO:0001819	synonymous_variant	158835					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69261709C>T	BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.951G>A	X.37:g.69261709C>T							p.Q317Q	NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN			7	956	-			317					Q6IEE3|Q6P437	Silent	SNP	ENST00000276101.3	37	c.951G>A	CCDS35320.1																																																																																				0.488	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254		5	289	0	0	0	1	0	5	289					T	69261709	C	T	69261709	2	4	103	1	0	0	0	0	0	0	0	1	1236	796	28	2		2	AWAT2	23	69261709	Silent	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2496548	69261709	86008851	140	35351											
KIF4A	24137	broad.mit.edu	37	chrX	69607059	69607059	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agctgccaacaagcgtctcaAggatgctctccagaaacaac	8	13	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69607059A>G	ENST00000374403.3	+	20	2226	c.2144A>G	c.(2143-2145)aAg>aGg	p.K715R	KIF4A_ENST00000374388.3_Missense_Mutation_p.K715R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	715	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGCGTCTCAAGGATGCTCTC	0.423																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2143-2145)aAg>aGg		kinesin family member 4A							49	40	43					X																	69607059		2200	4284	6484	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69607059A>G	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2144A>G	X.37:g.69607059A>G	ENSP00000363524:p.Lys715Arg					KIF4A_ENST00000374388.3_Missense_Mutation_p.K715R	p.K715R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			20	2226	+			715			Interaction with PRC1.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.2144A>G	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637444	0.47049	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.71461	2.54;-0.57	4.6	2.26	0.28386	.	0.203530	0.34460	N	0.003950	T	0.61048	0.2316	L	0.55990	1.75	0.54753	D	0.999982	B	0.19935	0.04	B	0.16722	0.016	T	0.56306	-0.8001	10	0.41790	T	0.15	.	7.6175	0.28167	0.803:0.0:0.197:0.0	.	715	O95239	KIF4A_HUMAN	R	715;715;17	ENSP00000363509:K715R;ENSP00000363524:K715R	ENSP00000363509:K715R	K	+	2	0	KIF4A	69523784	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.459000	0.53021	0.707000	0.31934	0.381000	0.24937	AAG		0.423	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		12	36	0	0	0	1	0	12	36					G	69607059	A	G	69607059	3	3	103	1	0	0	0	0	1	0	0	0	8333	72	3	4	2218	4	KIF4A	23	69607059	Missense_Mutation	SNP	A	TCGA-LB-A8F3-01A-11D-A36O-08	345350	69607059	85663501	141	35352											
MED12	9968	broad.mit.edu	37	chrX	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:70360648_70360650delCAG	ENST00000374080.3	+	42	6240_6242	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del|AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				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)					gcaacagcaacagcagcagcagc	0.621			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6217-6219)del		mediator complex subunit 12				7,109,3423		0,0,6,1,1,78,29,1439,461						2.6	0.4			23	29,192,5891		2,0,16,9,2,98,90,2148,1481	no	codingComplex	MED12	NM_005120.2		2,0,22,10,3,176,119,3587,1942	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		3.6158,3.2778,3.4919				36,301,9314				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360648_70360650delCAG	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.6208_6210delCAG	X.37:g.70360657_70360659delCAG	ENSP00000363193:p.Gln2076del					MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del	p.Q2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6416_6418	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6217_6219delCAG	CCDS43970.1																																																																																				0.621	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	203						9	203	---	---	---	---	-	70360650	CAG	-	70360648	7	5	103	1	0	1	0	1	0	0	0	0	9469	479	17	0	6374	0	MED12	23	70360648	In_Frame_Del	DEL	CAG	TCGA-LB-A8F3-01A-11D-A36O-08	753589	70360648	84909912	142	35353											
ATRX	546	broad.mit.edu	37	chrX	76812945	76812947	+	In_Frame_Del	DEL	TCT	TCT	-													tggcagcatgggagtatcccTcttcttcttcttttctgaat							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:76812945_76812947delTCT	ENST00000373344.5	-	30	6888_6890	c.6674_6676delAGA	c.(6673-6678)aagagg>agg	p.K2225del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.K2187del	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2225	Interaction with MECP2.|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						GGAGTATCCCTCTTCTTCTTCTT	0.365			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6673-6678)agg>a		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76812945_76812947delTCT	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.6674_6676delAGA	X.37:g.76812954_76812956delTCT	ENSP00000362441:p.Lys2225del					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del	p.KR2225del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			30	6888_6890	-			2225			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.6674_6676delAGA	CCDS14434.1																																																																																				0.365	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	1135						8	1135	---	---	---	---	-	76812947	TCT	-	76812945	7	5	103	1	0	1	0	1	0	0	0	0	1209	1550	54	0	826	0	ATRX	23	76812945	In_Frame_Del	DEL	TCT	TCGA-LB-A8F3-01A-11D-A36O-08	6452297	76812945	78457615	143	35354											
PGK1	5230	broad.mit.edu	37	chrX	77380480	77380480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgaatgggaagcttttgCccggggaaccaaagctctca	11	9	1	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:77380480C>T	ENST00000373316.4	+	9	1213	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Missense_Mutation_p.A213V|PGK1_ENST00000537456.1_Missense_Mutation_p.A321V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	349					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)	GAAGCTTTTGCCCGGGGAACC	0.502																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(1045-1047)gCc>gTc		phosphoglycerate kinase 1							102	93	96					X																	77380480		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77380480C>T	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.1046C>T	X.37:g.77380480C>T	ENSP00000362413:p.Ala349Val					PGK1_ENST00000537456.1_Missense_Mutation_p.A321V|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Missense_Mutation_p.A213V	p.A349V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			9	1213	+			349					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.1046C>T	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301012	0.81136	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000450919;ENST00000537456	D;D;D	0.92805	-3.11;-3.11;-3.11	5.24	4.37	0.52481	Phosphoglycerate kinase, C-terminal (1);	0.158098	0.56097	D	0.000036	D	0.96491	0.8855	H	0.99058	4.415	0.44771	D	0.997778	D	0.53151	0.958	P	0.49361	0.608	D	0.97124	0.9813	10	0.87932	D	0	-6.5456	14.2428	0.65969	0.0:0.854:0.146:0.0	.	349	P00558	PGK1_HUMAN	V	349;213;174;321	ENSP00000362413:A349V;ENSP00000405452:A213V;ENSP00000444708:A321V	ENSP00000362413:A349V	A	+	2	0	PGK1	77267136	1.000000	0.71417	0.984000	0.44739	0.988000	0.76386	5.592000	0.67543	1.086000	0.41228	0.513000	0.50165	GCC		0.502	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			5	395	0	0	0	1	0	5	395					T	77380480	C	T	77380480	3	4	103	1	0	0	0	0	1	0	0	0	11832	739	26	2	1080	2	PGK1	23	77380480	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	567535	77380480	77890080	144	35355											
PCDH19	57526	broad.mit.edu	37	chrX	99662436	99662436	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggcacattgcccagcaaaCggcactgcacacgtccattg	10	14	0	0			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:99662436C>T	ENST00000373034.4	-	1	2835	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R387H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R387H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	387	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(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						GCCCAGCAAACGGCACTGCAC	0.607																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1159-1161)cGt>cAt		protocadherin 19							77	76	76					X																	99662436		2180	4256	6436	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662436C>T	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.1160G>A	X.37:g.99662436C>T	ENSP00000362125:p.Arg387His					PCDH19_ENST00000255531.7_Missense_Mutation_p.R387H|PCDH19_ENST00000420881.2_Missense_Mutation_p.R387H	p.R387H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2835	-			387			Cadherin 4.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1160G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215554	0.58452	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.53640	0.61;0.61;0.61	5.95	5.95	0.96441	Cadherin (4);Cadherin-like (1);	0.045907	0.85682	D	0.000000	T	0.53546	0.1803	L	0.39514	1.22	0.49389	D	0.99978	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71414	0.937;0.955;0.973	T	0.52983	-0.8502	10	0.32370	T	0.25	.	6.888	0.24214	0.0:0.7732:0.0:0.2268	.	387;387;387	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	H	387	ENSP00000400327:R387H;ENSP00000362125:R387H;ENSP00000255531:R387H	ENSP00000255531:R387H	R	-	2	0	PCDH19	99549092	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.536000	0.53582	2.498000	0.84270	0.513000	0.50165	CGT		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		41	348	0	0	0	1	0	41	348					T	99662436	C	T	99662436	3	4	103	1	0	0	0	0	1	0	0	0	11556	536	19	1	2310	1	PCDH19	23	99662436	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	22281956	99662436	55608124	145	35356											
AMOT	154796	broad.mit.edu	37	chrX	112024240	112024240	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagagacttcgctggccGcatgcacgacagctgctctg	11	14	2	1			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:112024240G>A	ENST00000524145.1	-	10	2421	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	AMOT_ENST00000304758.1_Missense_Mutation_p.R374W|AMOT_ENST00000371958.1_Missense_Mutation_p.R551W|AMOT_ENST00000371962.1_Missense_Mutation_p.R551W|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Missense_Mutation_p.R783W			Q4VCS5	AMOT_HUMAN	angiomotin	783					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						TTCGCTGGCCGCATGCACGAC	0.552																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2347-2349)Cgg>Tgg		angiomotin							207	189	195					X																	112024240		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112024240G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2347C>T	X.37:g.112024240G>A	ENSP00000429013:p.Arg783Trp					AMOT_ENST00000371962.1_Missense_Mutation_p.R551W|AMOT_ENST00000371958.1_Missense_Mutation_p.R551W|AMOT_ENST00000524145.1_Missense_Mutation_p.R783W|AMOT_ENST00000304758.1_Missense_Mutation_p.R374W	p.R783W	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			9	2346	-			783					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2347C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593064	0.66219	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214;ENST00000371958	T;T;T;T;T	0.39406	1.08;1.38;1.62;1.38;1.16	5.69	0.432	0.16529	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63498	0.2516	M	0.78456	2.415	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.68138	-0.5488	10	0.62326	D	0.03	-17.5991	15.835	0.78791	0.0:0.0:0.3271:0.6729	.	783	Q4VCS5	AMOT_HUMAN	W	374;783;551;783;23;551	ENSP00000305557:R374W;ENSP00000361027:R783W;ENSP00000361030:R551W;ENSP00000429013:R783W;ENSP00000361026:R551W	ENSP00000305557:R374W	R	-	1	2	AMOT	111910896	0.992000	0.36948	0.996000	0.52242	0.894000	0.52154	0.225000	0.17757	-0.064000	0.13043	-0.205000	0.12727	CGG		0.552	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		8	1066	0	0	0	1	0	8	1066					A	112024240	G	A	112024240	3	1	103	1	0	0	0	0	1	0	0	0	582	1086	38	1	919	1	AMOT	23	112024240	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	12361804	112024240	43246320	146	35357											
HTR2C	3358	broad.mit.edu	37	chrX	114141325	114141325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgaccatctacgttctgCgccgacaagctttgatgtta	9	12	2	2			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:114141325C>T	ENST00000276198.1	+	6	1452	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	HTR2C_ENST00000371950.3_Missense_Mutation_p.A210V|HTR2C_ENST00000371951.1_Missense_Mutation_p.R242C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	242					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTACGTTCTGCGCCGACAAGC	0.502																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(724-726)Cgc>Tgc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						339	293	309					X																	114141325		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141325C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.724C>T	X.37:g.114141325C>T	ENSP00000276198:p.Arg242Cys					HTR2C_ENST00000371950.3_Missense_Mutation_p.A210V|HTR2C_ENST00000371951.1_Missense_Mutation_p.R242C	p.R242C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1452	+			242					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.724C>T	CCDS14564.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.27|14.27	2.486151|2.486151	0.44147|0.44147	.|.	.|.	ENSG00000147246|ENSG00000147246	ENST00000371950|ENST00000276198;ENST00000371951	T|T;T	0.53423|0.42900	0.62|0.96;0.96	4.87|4.87	4.0|4.0	0.46444|0.46444	.|GPCR, rhodopsin-like superfamily (1);	.|0.440001	.|0.22924	.|N	.|0.053992	T|T	0.65396|0.65396	0.2687|0.2687	M|M	0.85710|0.85710	2.77|2.77	0.09310|0.09310	N|N	1|1	B|D	0.14012|0.89917	0.009|1.0	B|D	0.06405|0.70487	0.002|0.969	T|T	0.60193|0.60193	-0.7311|-0.7311	9|10	0.87932|0.87932	D|D	0|0	.|.	11.5251|11.5251	0.50576|0.50576	0.1806:0.8194:0.0:0.0|0.1806:0.8194:0.0:0.0	.|.	210|242	B1AMW4|P28335	.|5HT2C_HUMAN	V|C	210|242	ENSP00000361018:A210V|ENSP00000276198:R242C;ENSP00000361019:R242C	ENSP00000361018:A210V|ENSP00000276198:R242C	A|R	+|+	2|1	0|0	HTR2C|HTR2C	114047581|114047581	1.000000|1.000000	0.71417|0.71417	0.160000|0.160000	0.22671|0.22671	0.916000|0.916000	0.54674|0.54674	7.715000|7.715000	0.84713|0.84713	0.933000|0.933000	0.37291|0.37291	0.544000|0.544000	0.68410|0.68410	GCG|CGC		0.502	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		9	1655	0	0	0	1	0	9	1655					T	114141325	C	T	114141325	3	4	103	1	0	0	0	0	1	0	0	0	7473	768	27	1	738	1	HTR2C	23	114141325	Missense_Mutation	SNP	C	TCGA-LB-A8F3-01A-11D-A36O-08	2117085	114141325	41129235	147	35358											
STAG2	10735	broad.mit.edu	37	chrX	123176477	123176477	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tctgagataattcgaaaaatGactgaagaattcgatgaggt	10	4	1	5			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:123176477G>A	ENST00000371160.1	+	7	734	c.444G>A	c.(442-444)atG>atA	p.M148I	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.M148I|STAG2_ENST00000371157.3_Missense_Mutation_p.M148I|STAG2_ENST00000371144.3_Missense_Mutation_p.M148I|STAG2_ENST00000371145.3_Missense_Mutation_p.M148I|STAG2_ENST00000354548.5_Missense_Mutation_p.M79I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	148					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGAAAAATGACTGAAGAAT	0.299																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(442-444)atG>atA		stromal antigen 2							78	74	76					X																	123176477		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123176477G>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.444G>A	X.37:g.123176477G>A	ENSP00000360202:p.Met148Ile					STAG2_ENST00000371144.3_Missense_Mutation_p.M148I|STAG2_ENST00000371145.3_Missense_Mutation_p.M148I|STAG2_ENST00000354548.5_Missense_Mutation_p.M79I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.M148I|STAG2_ENST00000371157.3_Missense_Mutation_p.M148I	p.M148I			Q8N3U4	STAG2_HUMAN			7	734	+			148					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.444G>A	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274155	0.80580	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	T;T;T;T;T;T;T	0.42900	1.9;0.96;1.52;1.51;1.51;1.9;1.51	5.74	4.86	0.63082	.	0.077879	0.85682	D	0.000000	T	0.60958	0.2309	M	0.83603	2.65	0.80722	D	1	D;P	0.55172	0.97;0.884	P;P	0.56700	0.804;0.54	T	0.62817	-0.6774	10	0.29301	T	0.29	-15.651	15.262	0.73631	0.0:0.0:0.8586:0.1414	.	148;148	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	I	148;148;79;148;148;148;148;148;148;148	ENSP00000218089:M148I;ENSP00000397265:M148I;ENSP00000346555:M79I;ENSP00000360202:M148I;ENSP00000360199:M148I;ENSP00000360187:M148I;ENSP00000360186:M148I	ENSP00000218089:M148I	M	+	3	0	STAG2	123004158	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.740000	0.98839	1.172000	0.42781	0.522000	0.50473	ATG		0.299	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		25	343	0	0	0	1	0	25	343					A	123176477	G	A	123176477	3	1	103	1	0	0	0	0	1	0	0	0	15295	1290	45	2	462	2	STAG2	23	123176477	Missense_Mutation	SNP	G	TCGA-LB-A8F3-01A-11D-A36O-08	9035152	123176477	32094083	148	35359											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				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)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	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.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		13	606						13	606	---	---	---	---	-	135585050	AAG	-	135585048	7	5	103	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-LB-A8F3-01A-11D-A36O-08	12408571	135585048	19685512	149	35360											
ATP13A2	23400	broad.mit.edu	37	chr1	17313653	17313653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagcgcccccggtggccGcacccgtcccaggaccagcg	14	19	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:17313653G>A	ENST00000326735.8	-	26	3004	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R986W			Q9NQ11	AT132_HUMAN	ATPase type 13A2	991					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCCGGTGGCCGCACCCGTCCC	0.687																																						ENST00000452699.1																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2956-2958)Cgg>Tgg		ATPase type 13A2							46	43	44					1																	17313653		2203	4299	6502	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17313653G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2971C>T	1.37:g.17313653G>A	ENSP00000327214:p.Arg991Trp					ATP13A2_ENST00000341676.5_Missense_Mutation_p.R947W|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R991W	p.R986W	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	26	3145	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	991					O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2956C>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745542	0.69418	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.37	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.92219	3.285	0.45806	D	0.998684	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.96317	0.9233	10	0.87932	D	0	-37.805	14.0426	0.64687	0.0:0.0:1.0:0.0	.	947;986;991	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	W	991;947;986;187	ENSP00000327214:R991W;ENSP00000341115:R947W;ENSP00000413307:R986W;ENSP00000423065:R187W	ENSP00000327214:R991W	R	-	1	2	ATP13A2	17186240	1.000000	0.71417	0.993000	0.49108	0.482000	0.33219	5.012000	0.64017	2.390000	0.81377	0.561000	0.74099	CGG		0.687	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		4	151	0	0	0	1	0	4	151					A	17313653	G	A	17313653	3	1	104	1	0	0	0	0	1	0	0	0	1125	1086	38	1	823	1	ATP13A2	1	17313653	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		17313653	231936968	1	35361											
TIE1	7075	broad.mit.edu	37	chr1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaccatcgtgactttgCgggagaactggaagttctgt	12	7	1	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165	180	175					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		7	949	0	0	0	1	0	7	949					T	43783268	C	T	43783268	3	4	104	1	0	0	0	0	1	0	0	0	15945	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	26469615	43783268	205467353	2	35362											
PTPRF	5792	broad.mit.edu	37	chr1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-													gagcaaggcggagaggagcaGcggcggcggcggcggcaggc					rs549143666|rs377569778	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					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)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	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.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	596						7	596	---	---	---	---	-	44071948	GCG	-	44071946	7	5	104	1	0	1	0	1	0	0	0	0	12851	962	34	0	3589	0	PTPRF	1	44071946	In_Frame_Del	DEL	GCG	TCGA-LB-A9Q5-01A-11D-A397-08	288678	44071946	205178675	3	35363											
NRD1	4898	broad.mit.edu	37	chr1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatcgaaagccttcaacGtaaagtccgtggctaataaa	9	9	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:52272573G>A	ENST00000354831.7	-	20	2396	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	667					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						AGCCTTCAACGTAAAGTCCGT	0.373																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2206-2208)aCg>aTg		nardilysin (N-arginine dibasic convertase)							111	111	111					1																	52272573		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52272573G>A	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.2207C>T	1.37:g.52272573G>A	ENSP00000346890:p.Thr736Met					NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR	p.T736M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			20	2396	-			667					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2207C>T	CCDS559.1	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463744	0.12402	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.1	2.01	0.26516	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.222182	0.47093	N	0.000260	T	0.24122	0.0584	M	0.74647	2.275	0.44702	D	0.997694	P;B;B	0.35780	0.52;0.198;0.198	B;B;B	0.26614	0.071;0.032;0.032	T	0.03795	-1.1003	10	0.41790	T	0.15	-0.2231	10.2689	0.43470	0.2059:0.0:0.7941:0.0	.	668;667;736	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	M	668;736;604;668;536	ENSP00000262679:T668M;ENSP00000346890:T736M;ENSP00000444416:T604M;ENSP00000442262:T536M	ENSP00000262679:T668M	T	-	2	0	NRD1	52045161	0.991000	0.36638	0.275000	0.24674	0.087000	0.18053	3.724000	0.54962	0.106000	0.17784	-0.237000	0.12165	ACG		0.373	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		6	500	0	0	0	1	0	6	500					A	52272573	G	A	52272573	3	1	104	1	0	0	0	0	1	0	0	0	10687	1145	40	1	1508	1	NRD1	1	52272573	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	8200627	52272573	196978048	4	35364											
CELSR2	1952	broad.mit.edu	37	chr1	109808777	109808777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggctgggatctggtggcccCgtacccgcttcgggctgcct	15	14	1	0	rs375830885		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:109808777C>T	ENST00000271332.3	+	15	6023	c.5962C>T	c.(5962-5964)Cgt>Tgt	p.R1988C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1988					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)		CTGGTGGCCCCGTACCCGCTT	0.617																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(5962-5964)Cgt>Tgt		cadherin, EGF LAG seven-pass G-type receptor 2		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	67	71		5962	4.6	1	1		71	0,8600		0,0,4300	no	missense	CELSR2	NM_001408.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1988/2924	109808777	1,13005	2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109808777C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5962C>T	1.37:g.109808777C>T	ENSP00000271332:p.Arg1988Cys						p.R1988C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	15	6023	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1988					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5962C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182257	0.78677	2.27E-4	0.0	ENSG00000143126	ENST00000271332	T	0.70631	-0.5	4.6	4.6	0.57074	GPCR, family 2, extracellular hormone receptor domain (2);	.	.	.	.	D	0.82309	0.5009	M	0.83384	2.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.67382	0.951	D	0.85520	0.1203	9	0.87932	D	0	.	17.6074	0.88042	0.0:1.0:0.0:0.0	.	1988	Q9HCU4	CELR2_HUMAN	C	1988	ENSP00000271332:R1988C	ENSP00000271332:R1988C	R	+	1	0	CELSR2	109610300	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.958000	0.70330	2.387000	0.81309	0.462000	0.41574	CGT		0.617	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		15	324	0	0	0	1	0	15	324					T	109808777	C	T	109808777	3	4	104	1	0	0	0	0	1	0	0	0	3231	652	23	1	6020	1	CELSR2	1	109808777	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	57536204	109808777	139441844	5	35365											
RHOC	389	broad.mit.edu	37	chr1	113244218	113244218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcggacctggaggccagcccGagtggccatctcaaacacct	12	15	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:113244218G>A	ENST00000285735.2	-	6	1735	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	RHOC_ENST00000369642.3_Missense_Mutation_p.R176W|RP11-426L16.10_ENST00000471038.2_5'Flank|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000339083.7_Missense_Mutation_p.R176W			P08134	RHOC_HUMAN	ras homolog family member C	176					apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|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)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(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)		AGGCCAGCCCGAGTGGCCATC	0.617																																						ENST00000285735.2																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(526-528)Cgg>Tgg		ras homolog family member C							114	102	106					1																	113244218		2203	4300	6503	SO:0001583	missense	389				axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity	g.chr1:113244218G>A	BC052808	CCDS854.1	1p13.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000155366	ENSG00000155366			669	protein-coding gene	gene with protein product		165380	"ras homolog gene family, member C"	ARH9, ARHC		3283705	Standard	NM_001042678		Approved	RhoC	uc001ecp.1	P08134	OTTHUMG00000011905	ENST00000285735.2:c.526C>T	1.37:g.113244218G>A	ENSP00000285735:p.Arg176Trp					RHOC_ENST00000339083.7_Missense_Mutation_p.R176W|RHOC_ENST00000369632.2_Missense_Mutation_p.R176W|RHOC_ENST00000369636.2_Silent_p.L155L|RHOC_ENST00000369637.1_Missense_Mutation_p.R176W|RHOC_ENST00000369638.2_Missense_Mutation_p.R176W|RHOC_ENST00000369633.2_Missense_Mutation_p.R176W|RHOC_ENST00000369642.3_Missense_Mutation_p.R176W	p.R176W			P08134	RHOC_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1735	-	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)	176					B3KSW1|Q6ICN3	Missense_Mutation	SNP	ENST00000285735.2	37	c.526C>T	CCDS854.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936495	0.73442	.	.	ENSG00000155366	ENST00000339083;ENST00000369633;ENST00000369642;ENST00000285735;ENST00000369638;ENST00000369637;ENST00000369632;ENST00000484054;ENST00000425265	T;T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.13	0.702	0.18110	.	.	.	.	.	T	0.76673	0.4020	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.80313	-0.1435	9	0.87932	D	0	-1.3188	14.0156	0.64523	0.0:0.0:0.4807:0.5193	.	176	P08134	RHOC_HUMAN	W	176;176;176;176;176;176;176;213;176	ENSP00000345236:R176W;ENSP00000358647:R176W;ENSP00000358656:R176W;ENSP00000285735:R176W;ENSP00000358652:R176W;ENSP00000358651:R176W;ENSP00000358646:R176W;ENSP00000434877:R213W;ENSP00000390823:R176W	ENSP00000285735:R176W	R	-	1	2	RHOC	113045741	0.990000	0.36364	0.990000	0.47175	0.998000	0.95712	2.208000	0.42797	0.157000	0.19338	0.563000	0.77884	CGG		0.617	RHOC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032904.2	NM_175744		22	396	0	0	0	1	0	22	396					A	113244218	G	A	113244218	3	1	104	1	0	0	0	0	1	0	0	0	13386	1057	37	1	59	1	RHOC	1	113244218	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	3435441	113244218	136006403	6	35366											
POLR3C	10623	broad.mit.edu	37	chr1	145608249	145608249	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgtgtctgccagtcGcacaaatgtgtttgatactt	10	7	1	1	rs375263808		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:145608249G>A	ENST00000334163.3	-	4	608	c.448C>T	c.(448-450)Cga>Tga	p.R150*	POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150*|POLR3C_ENST00000471254.1_5'UTR|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	150					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TCTGCCAGTCGCACAAATGTG	0.498																																						ENST00000334163.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(448-450)Cga>Tga		polymerase (RNA) III (DNA directed) polypeptide C (62kD)		G	stop/ARG	0,4406		0,0,2203	198	175	182		448	4.7	1	1		182	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	POLR3C	NM_006468.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		150/535	145608249	1,13005	2203	4300	6503	SO:0001587	stop_gained	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608249G>A	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"RNA polymerase subunits"	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.448C>T	1.37:g.145608249G>A	ENSP00000334564:p.Arg150*					POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Nonsense_Mutation_p.R150*	p.R150*	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		4	608	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		150					O15317|Q9Y3R6	Nonsense_Mutation	SNP	ENST00000334163.3	37	c.448C>T	CCDS921.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884789	0.72410	0.0	1.16E-4	ENSG00000186141	ENST00000334163;ENST00000369294	.	.	.	5.62	4.69	0.59074	.	0.193584	0.43919	D	0.000517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7899	13.4388	0.61101	0.0:0.0:0.8418:0.1582	.	.	.	.	X	150	.	ENSP00000334564:R150X	R	-	1	2	POLR3C	144319606	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	3.850000	0.55918	1.325000	0.45301	0.655000	0.94253	CGA		0.498	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		5	296	0	0	0	1	0	5	296					A	145608249	G	A	145608249	4	1	104	1	0	0	0	0	0	1	0	0	12272	1095	38	1	1204	1	POLR3C	1	145608249	Nonsense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	32364031	145608249	103642372	7	35367											
FLG	2312	broad.mit.edu	37	chr1	152282617	152282617	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcttgtcttggaccccGctgattctccctggcccacc	9	18	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:152282617G>A	ENST00000368799.1	-	3	4780	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1582	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)			CTTGGACCCCGCTGATTCTCC	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4744-4746)gCg>gTg		filaggrin							160	170	167					1																	152282617		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282617G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4745C>T	1.37:g.152282617G>A	ENSP00000357789:p.Ala1582Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1582V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4780	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1582			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4745C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176695	0.21704	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	2.74	-4.7	0.03288	.	.	.	.	.	T	0.00412	0.0013	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46938	-0.9155	9	0.28530	T	0.3	.	0.7528	0.00993	0.3328:0.1614:0.3415:0.1644	.	1582	P20930	FILA_HUMAN	V	1582	ENSP00000357789:A1582V	ENSP00000357789:A1582V	A	-	2	0	FLG	150549241	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.013000	0.00160	-1.202000	0.02655	-3.061000	0.00068	GCG		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	892	0	0	0	1	0	6	892					A	152282617	G	A	152282617	3	1	104	1	0	0	0	0	1	0	0	0	5947	1087	38	1	7444	1	FLG	1	152282617	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	6674368	152282617	96968004	8	35368											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	287	0	0	0	1	0	5	287					T	153907309	C	T	153907309	2	4	104	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	1624692	153907309	95343312	9	35369											
BCAN	63827	broad.mit.edu	37	chr1	156626160	156626160	+	Frame_Shift_Del	DEL	G	G	-													gcctatgtctgcctggctatGggggggacctgtgcgatgtt					rs571106745		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:156626160delG	ENST00000329117.5	+	9	2365	c.2029delG	c.(2029-2031)gggfs	p.G678fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	678	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGGCTATGGGGGGGACCT	0.622																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2029-2031)ggfs		brevican							84	76	79					1																	156626160		2203	4300	6503	SO:0001589	frameshift_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626160delG	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.2029delG	1.37:g.156626160delG	ENSP00000331210:p.Gly678fs					RP11-284F21.7_ENST00000448869.1_RNA	p.G678fs	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			9	2365	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		678			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Frame_Shift_Del	DEL	ENST00000329117.5	37	c.2029delG	CCDS1149.1																																																																																				0.622	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		7	633						7	633	---	---	---	---	-	156626160	G	-	156626160	7	5	104	1	0	1	0	1	0	0	0	0	1346	1348	47	0	2133	0	BCAN	1	156626160	Frame_Shift_Del	DEL	G	TCGA-LB-A9Q5-01A-11D-A397-08	2718851	156626160	92624461	10	35370											
OR10K1	391109	broad.mit.edu	37	chr1	158435396	158435396	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgagagagttcgtcgtcctCggcttctcatccctggccag	12	13	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:158435396C>T	ENST00000289451.2	+	1	125	c.45C>T	c.(43-45)ctC>ctT	p.L15L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, 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)			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)					TCGTCGTCCTCGGCTTCTCAT	0.507																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(43-45)ctC>ctT		olfactory receptor, family 10, subfamily K, member 1							101	88	92					1																	158435396		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435396C>T	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.45C>T	1.37:g.158435396C>T							p.L15L	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	125	+	all_hematologic(112;0.0378)		15					Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.45C>T	CCDS30897.1																																																																																				0.507	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			12	231	0	0	0	1	0	12	231					T	158435396	C	T	158435396	2	4	104	1	0	0	0	0	0	0	0	1	10955	871	31	1		1	OR10K1	1	158435396	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	1809236	158435396	90815225	11	35371											
PKP1	5317	broad.mit.edu	37	chr1	201252975	201252975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagcaggtgatgatgaccGtcaagcggcagaagtccaag	15	8	1	4			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:201252975G>A	ENST00000352845.3	+	1	145	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	PKP1_ENST00000263946.3_Missense_Mutation_p.V49I|PKP1_ENST00000367324.3_Missense_Mutation_p.V49I			Q13835	PKP1_HUMAN	plakophilin 1	49					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						GATGATGACCGTCAAGCGGCA	0.612																																						ENST00000263946.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						c.(145-147)Gtc>Atc		plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)							117	92	100					1																	201252975		2203	4300	6503	SO:0001583	missense	5317				cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	g.chr1:201252975G>A	X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"Armadillo repeat containing"	9023	protein-coding gene	gene with protein product	"ectodermal dysplasia/skin fragility syndrome"	601975	"plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.145G>A	1.37:g.201252975G>A	ENSP00000295597:p.Val49Ile					PKP1_ENST00000367324.3_Missense_Mutation_p.V49I|PKP1_ENST00000352845.3_Missense_Mutation_p.V49I	p.V49I	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN			1	396	+			49					O00645|Q14CA0|Q15152	Missense_Mutation	SNP	ENST00000352845.3	37	c.145G>A	CCDS30966.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274211	0.80580	.	.	ENSG00000081277	ENST00000367324;ENST00000263946;ENST00000352845	T;T;T	0.37915	1.17;1.17;1.17	4.93	4.93	0.64822	.	0.260506	0.26153	N	0.026030	T	0.43853	0.1266	N	0.17082	0.46	0.41428	D	0.987843	D;D	0.71674	0.998;0.961	D;B	0.71184	0.972;0.245	T	0.45687	-0.9244	10	0.45353	T	0.12	-19.2651	16.3155	0.82918	0.0:0.0:1.0:0.0	.	49;49	Q13835-2;Q13835	.;PKP1_HUMAN	I	49	ENSP00000356293:V49I;ENSP00000263946:V49I;ENSP00000295597:V49I	ENSP00000263946:V49I	V	+	1	0	PKP1	199519598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.458000	0.60095	2.278000	0.76064	0.655000	0.94253	GTC		0.612	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299		8	210	0	0	0	1	0	8	210					A	201252975	G	A	201252975	3	1	104	1	0	0	0	0	1	0	0	0	12026	1145	40	1	147	1	PKP1	1	201252975	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	42817579	201252975	47997646	12	35372											
FMN2	56776	broad.mit.edu	37	chr1	240371196	240371196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccccctctacccggagcGggcataccccctccgccccc	7	25	1	0	rs201173147		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:240371196G>A	ENST00000319653.9	+	5	3314	c.3084G>A	c.(3082-3084)gcG>gcA	p.A1028A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1028	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.741																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3082-3084)gcG>gcA		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371196G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3084G>A	1.37:g.240371196G>A							p.A1028A	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3314	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1028			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3084G>A	CCDS31069.2																																																																																				0.741	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	127	0	0	0	1	0	4	127					A	240371196	G	A	240371196	2	1	104	1	0	0	0	0	0	0	0	1	5975	1103	39	1		1	FMN2	1	240371196	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	39118221	240371196	8879425	13	35373											
OR2M5	127059	broad.mit.edu	37	chr1	248309257	248309257	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgatcgctcccctatgCaggacaagctggtgtctgta	10	12	2	1	rs368493003		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr1:248309257C>T	ENST00000366476.1	+	1	808	c.808C>T	c.(808-810)Cag>Tag	p.Q270*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCCCCTATGCAGGACAAGCT	0.512																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(808-810)Cag>Tag		olfactory receptor, family 2, subfamily M, member 5							162	146	152					1																	248309257		2203	4300	6503	SO:0001587	stop_gained	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309257C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.808C>T	1.37:g.248309257C>T	ENSP00000355432:p.Gln270*						p.Q270*	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	808	+	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)		270						Nonsense_Mutation	SNP	ENST00000366476.1	37	c.808C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	10.73	1.432018	0.25813	.	.	ENSG00000162727	ENST00000366476	.	.	.	3.15	-2.55	0.06288	.	.	.	.	.	.	.	.	.	.	.	0.48135	D	0.999598	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	2.4525	0.04522	0.2978:0.3147:0.2927:0.0948	.	.	.	.	X	270	.	ENSP00000355432:Q270X	Q	+	1	0	OR2M5	246375880	0.000000	0.05858	0.010000	0.14722	0.020000	0.10135	-1.939000	0.01545	-0.351000	0.08249	-0.565000	0.04167	CAG		0.512	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		21	879	0	0	0	1	0	21	879					T	248309257	C	T	248309257	4	4	104	1	0	0	0	0	0	1	0	0	11055	711	25	2	810	2	OR2M5	1	248309257	Nonsense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	7938061	248309257	941364	14	35374											
GDF7	151449	broad.mit.edu	37	chr2	20870689	20870689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttattccgggagatccgcgCccaggcccgcgcgctcgggg	15	16	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:20870689C>T	ENST00000272224.3	+	2	1433	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	286					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGATCCGCGCCCAGGCCCGC	0.736																																						ENST00000272224.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7						c.(856-858)gCc>gTc		growth differentiation factor 7							4	5	4					2																	20870689		1414	2995	4409	SO:0001583	missense	151449				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:20870689C>T	AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.857C>T	2.37:g.20870689C>T	ENSP00000272224:p.Ala286Val						p.A286V	NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN			2	1433	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		286						Missense_Mutation	SNP	ENST00000272224.3	37	c.857C>T	CCDS1701.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960656	0.53400	.	.	ENSG00000143869	ENST00000272224	T	0.79653	-1.29	3.37	3.37	0.38596	.	0.735154	0.10906	U	0.621094	T	0.66819	0.2828	N	0.19112	0.55	0.33733	D	0.618491	P	0.44627	0.839	B	0.38562	0.276	T	0.73209	-0.4055	10	0.59425	D	0.04	.	9.0478	0.36358	0.4019:0.5981:0.0:0.0	.	286	Q7Z4P5	GDF7_HUMAN	V	286	ENSP00000272224:A286V	ENSP00000272224:A286V	A	+	2	0	GDF7	20734170	1.000000	0.71417	0.987000	0.45799	0.306000	0.27790	4.331000	0.59273	1.890000	0.54733	0.462000	0.41574	GCC		0.736	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207563.2	NM_182828		4	39	0	0	0	1	0	4	39					T	20870689	C	T	20870689	3	4	104	1	0	0	0	0	1	0	0	0	6347	739	26	2	863	2	GDF7	2	20870689	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		20870689	222328684	15	35375											
CGREF1	10669	broad.mit.edu	37	chr2	27324320	27324320	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcctctgcctggcccCcagcttcccctctgggcccg	9	21	3	0	rs111421729		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27324320C>T	ENST00000260595.5	-	7	1028				CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Missense_Mutation_p.G260E|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGGCCCCCAGCTTCCCC	0.692																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(778-780)gGg>gAg		cell growth regulator with EF-hand domain 1							25	28	27					2																	27324320		1717	3379	5096	SO:0001627	intron_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324320C>T	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.736-8G>A	2.37:g.27324320C>T						CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E	p.G260E	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1047	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.779G>A		.	.	.	.	.	.	.	.	.	.	c	11.11	1.543013	0.27563	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694	T;T;T;T	0.78364	-1.09;-1.09;-1.09;-1.17	3.59	1.7	0.24286	.	.	.	.	.	T	0.74283	0.3696	.	.	.	0.09310	N	0.999999	D;D	0.54047	0.964;0.964	P;B	0.46585	0.521;0.443	T	0.64037	-0.6501	8	0.87932	D	0	-13.6597	7.6551	0.28371	0.1863:0.6333:0.1804:0.0	.	382;260	B5MCC9;Q99674	.;CGRE1_HUMAN	E	260;260;243;260;382	ENSP00000385452:G260E;ENSP00000386113:G260E;ENSP00000324025:G260E;ENSP00000385574:G382E	ENSP00000324025:G260E	G	-	2	0	CGREF1	27177824	0.004000	0.15560	0.031000	0.17742	0.023000	0.10783	0.375000	0.20518	0.218000	0.20820	-0.306000	0.09157	GGG		0.692	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		5	434	0	0	0	1	0	5	434					T	27324320	C	T	27324320	1	4	104	0	1	0	0	0	0	0	0	0	3314	623	22	2		2	CGREF1	2	27324320	Intron	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	6453631	27324320	215875053	16	35376											
ZNF513	130557	broad.mit.edu	37	chr2	27602967	27602967	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccgaaaacccaccttccgaGtctctctcgaagcccatgag	7	17	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:27602967G>T	ENST00000323703.6	-	2	402	c.204C>A	c.(202-204)gaC>gaA	p.D68E	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	68	Gly-rich.				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)					CACCTTCCGAGTCTCTCTCGA	0.557																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(202-204)gaC>gaA		zinc finger protein 513							134	136	135					2																	27602967		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27602967G>T	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.204C>A	2.37:g.27602967G>T	ENSP00000318373:p.Asp68Glu					ZNF513_ENST00000407879.1_Missense_Mutation_p.D6E	p.D68E	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			2	402	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		68			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.204C>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969320	0.53614	.	.	ENSG00000163795	ENST00000323703;ENST00000407879;ENST00000436006	T;T;T	0.66815	3.17;2.98;-0.23	4.29	4.29	0.51040	.	0.000000	0.49916	D	0.000123	T	0.48352	0.1495	N	0.19112	0.55	0.29729	N	0.838021	P	0.40476	0.718	B	0.42343	0.384	T	0.48514	-0.9029	10	0.02654	T	1	-12.4003	12.1265	0.53920	0.0:0.0:1.0:0.0	.	68	Q8N8E2	ZN513_HUMAN	E	68;6;6	ENSP00000318373:D68E;ENSP00000384874:D6E;ENSP00000394226:D6E	ENSP00000318373:D68E	D	-	3	2	ZNF513	27456471	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.816000	0.48026	2.233000	0.73108	0.555000	0.69702	GAC		0.557	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		34	888	1	0	3.90053e-15	1	4.07668e-15	34	888					T	27602967	G	T	27602967	3	4	104	1	0	0	0	0	1	0	0	0	18011	1020	36	3	1433	3	ZNF513	2	27602967	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	278647	27602967	215596406	17	35377											
SEMA4F	10505	broad.mit.edu	37	chr2	74906803	74906803	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctccaagctcagcatggGcatcctgtgtgtggcaccag	12	12	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:74906803G>A	ENST00000357877.2	+	14	1929	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	594	Ig-like C2-type.				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						CTCAGCATGGGCATCCTGTGT	0.597																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1780-1782)Gca>Aca		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							142	127	132					2																	74906803		2203	4300	6503	SO:0001583	missense	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906803G>A	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1780G>A	2.37:g.74906803G>A	ENSP00000350547:p.Ala594Thr					SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.A439T	p.A594T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			14	1929	+			594			Ig-like C2-type.		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.1780G>A	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159512	0.78226	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.38887	1.35;1.11	5.11	4.17	0.49024	.	0.162036	0.42420	D	0.000708	T	0.39708	0.1088	N	0.08118	0	0.34492	D	0.705097	D;D	0.67145	0.996;0.996	D;D	0.68039	0.955;0.931	T	0.55742	-0.8093	10	0.87932	D	0	.	10.0521	0.42221	0.0:0.0:0.7993:0.2007	.	439;594	O95754-2;O95754	.;SEM4F_HUMAN	T	594;439	ENSP00000350547:A594T;ENSP00000342675:A439T	ENSP00000342675:A439T	A	+	1	0	SEMA4F	74760311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.586000	0.36611	2.376000	0.81061	0.467000	0.42956	GCA		0.597	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		6	581	0	0	0	1	0	6	581					A	74906803	G	A	74906803	3	1	104	1	0	0	0	0	1	0	0	0	14085	1203	42	2	1834	2	SEMA4F	2	74906803	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	47303836	74906803	168292570	18	35378											
CNNM4	26504	broad.mit.edu	37	chr2	97426885	97426885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcacgatcgtgggcatgaGgctggcgagctgcaacaagt	17	9	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:97426885G>A	ENST00000377075.2	+	1	247	c.149G>A	c.(148-150)aGg>aAg	p.R50K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	50					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						GTGGGCATGAGGCTGGCGAGC	0.701																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(148-150)aGg>aAg		cyclin M4																																				SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97426885G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.149G>A	2.37:g.97426885G>A	ENSP00000366275:p.Arg50Lys						p.R50K	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	247	+			50					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.149G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	G	31	5.088319	0.94100	.	.	ENSG00000158158	ENST00000377075	D	0.84370	-1.84	3.72	3.72	0.42706	.	0.000000	0.64402	U	0.000006	D	0.87958	0.6309	M	0.71036	2.16	0.80722	D	1	D	0.67145	0.996	P	0.51615	0.675	D	0.89989	0.4106	10	0.72032	D	0.01	-18.3957	14.7617	0.69610	0.0:0.0:1.0:0.0	.	50	Q6P4Q7	CNNM4_HUMAN	K	50	ENSP00000366275:R50K	ENSP00000366275:R50K	R	+	2	0	CNNM4	96790612	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.077000	0.71275	2.069000	0.61940	0.462000	0.41574	AGG		0.701	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		7	152	0	0	0	1	0	7	152					A	97426885	G	A	97426885	3	1	104	1	0	0	0	0	1	0	0	0	3624	1000	35	2	151	2	CNNM4	2	97426885	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	22520082	97426885	145772488	19	35379											
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|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						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		9	893	0	0	0	1	0	9	893					T	109371685	A	T	109371685	3	4	104	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-LB-A9Q5-01A-11D-A397-08	11944800	109371685	133827688	20	35380											
UGGT1	56886	broad.mit.edu	37	chr2	128941276	128941276	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgttgtggatctgaagaaGtttaggaaaatagctgctgg	13	3	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:128941276G>A	ENST00000259253.6	+	38	4319	c.4272G>A	c.(4270-4272)aaG>aaA	p.K1424K	UGGT1_ENST00000375990.3_Silent_p.K1400K	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1424	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATCTGAAGAAGTTTAGGAAAA	0.423																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4198-4200)aaG>aaA		UDP-glucose glycoprotein glucosyltransferase 1							122	117	119					2																	128941276		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128941276G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4272G>A	2.37:g.128941276G>A						UGGT1_ENST00000259253.6_Silent_p.K1424K	p.K1400K			Q9NYU2	UGGG1_HUMAN			38	4603	+			1424			Glucosyltransferase (By similarity).		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.4200G>A	CCDS2154.1																																																																																				0.423	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		5	177	0	0	0	1	0	5	177					A	128941276	G	A	128941276	2	1	104	1	0	0	0	0	0	0	0	1	16995	1020	36	2		2	UGGT1	2	128941276	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	19569591	128941276	114258097	21	35381											
CCDC74A	90557	broad.mit.edu	37	chr2	132290319	132290319	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agtgcgaagtgctcatccgcGagctgtggaataccaacctc	11	12	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:132290319G>A	ENST00000295171.6	+	5	979	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	281										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCATCCGCGAGCTGTGGAA	0.677																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(841-843)Gag>Aag		coiled-coil domain containing 74A							51	51	51					2																	132290319		2202	4276	6478	SO:0001583	missense	90557							g.chr2:132290319G>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.841G>A	2.37:g.132290319G>A	ENSP00000295171:p.Glu281Lys					CCDC74A_ENST00000409856.3_Missense_Mutation_p.E215K|CCDC74A_ENST00000467992.2_3'UTR	p.E281K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			5	979	+			281					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.841G>A	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	10.85	1.466572	0.26335	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.30448	1.53;1.53	2.66	1.74	0.24563	.	0.228610	0.22012	U	0.065844	T	0.13329	0.0323	N	0.08118	0	0.80722	D	1	B;B	0.31611	0.221;0.331	B;B	0.25614	0.026;0.062	T	0.09037	-1.0693	10	0.66056	D	0.02	.	7.4179	0.27055	0.0:0.7175:0.2825:0.0	.	215;281	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	K	281;215	ENSP00000295171:E281K;ENSP00000387009:E215K	ENSP00000295171:E281K	E	+	1	0	CCDC74A	132006789	0.981000	0.34729	0.988000	0.46212	0.372000	0.29890	2.366000	0.44204	0.211000	0.20683	0.194000	0.17425	GAG		0.677	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		10	342	0	0	0	1	0	10	342					A	132290319	G	A	132290319	3	1	104	1	0	0	0	0	1	0	0	0	2854	1059	37	1	859	1	CCDC74A	2	132290319	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	3349043	132290319	110909054	22	35382											
SCN1A	6323	broad.mit.edu	37	chr2	166930064	166930064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatgcgtctttcaatagccGcaagagattctctggtgaag	10	9	3	2	rs139397227	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:166930064G>A	ENST00000303395.4	-	1	67	c.68C>T	c.(67-69)gCg>gTg	p.A23V	SCN1A_ENST00000423058.2_Missense_Mutation_p.A23V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	23					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)	TTCAATAGCCGCAAGAGATTC	0.423													G|||	7	0.00139776	0.0053	0.0	5008	,	,		17024	0.0		0.0	False		,,,				2504	0.0					ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(67-69)gCg>gTg		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	7,4399	14.3+/-33.2	0,7,2196	167	163	164		68,68,68,68	5.8	1	2	dbSNP_134	164	0,8600		0,0,4300	yes	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	64,64,64,64	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	23/2010,23/1982,23/2010,23/1999	166930064	7,12999	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166930064G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.68C>T	2.37:g.166930064G>A	ENSP00000303540:p.Ala23Val					AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.A23V|SCN1A_ENST00000375405.3_Missense_Mutation_p.A23V|SCN1A_ENST00000303395.4_Missense_Mutation_p.A23V|AC010127.3_ENST00000599041.1_RNA	p.A23V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			1	85	-			23					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.68C>T	CCDS54413.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.91	3.503542	0.64298	0.001589	0.0	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96802	-4.13;-4.13;-4.1;-4.08	5.77	5.77	0.91146	.	0.093676	0.46442	D	0.000293	D	0.95214	0.8448	L	0.53780	1.695	0.44570	D	0.997536	P	0.51057	0.941	P	0.46585	0.521	D	0.93992	0.7268	10	0.38643	T	0.18	.	14.2196	0.65818	0.0:0.0:0.8509:0.1491	.	23	P35498-2	.	V	23	ENSP00000407030:A23V;ENSP00000303540:A23V;ENSP00000364554:A23V;ENSP00000386312:A23V	ENSP00000303540:A23V	A	-	2	0	SCN1A	166638310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.216000	0.42871	2.885000	0.99019	0.655000	0.94253	GCG		0.423	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	693	0	0	0	1	0	6	693					A	166930064	G	A	166930064	3	1	104	1	0	0	0	0	1	0	0	0	13964	1087	38	1	6065	1	SCN1A	2	166930064	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	34639745	166930064	76269309	23	35383											
TTN	7273	broad.mit.edu	37	chr2	179398331	179398331	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtcttcaccatatttGttccttgccacaacagtata	5	12	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr2:179398331G>T	ENST00000591111.1	-	308	98312	c.98088C>A	c.(98086-98088)aaC>aaA	p.N32696K	TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N34337K|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32696	Ig-like 144.				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)			CACCATATTTGTTCCTTGCCA	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103009-103011)aaC>aaA		titin							152	135	141					2																	179398331		1990	4187	6177	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398331G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98088C>A	2.37:g.179398331G>T	ENSP00000465570:p.Asn32696Lys					TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N25397K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.N32696K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N25272K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N31769K|TTN_ENST00000342175.6_Missense_Mutation_p.N25464K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA	p.N34337K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	103235	-			32696			Ig-like 152.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.103011C>A		.	.	.	.	.	.	.	.	.	.	G	21.8	4.196169	0.78902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.74	5.74	0.90152	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	0.91888	0.7432	H	0.99074	4.42	0.50813	D	0.999894	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	0.94384	0.7607	9	0.87932	D	0	.	13.58	0.61896	0.0803:0.0:0.9197:0.0	.	25272;25397;25464;32696	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31769;25272;25464;25397;25269	ENSP00000343764:N31769K;ENSP00000434586:N25272K;ENSP00000340554:N25464K;ENSP00000352154:N25397K	ENSP00000340554:N25464K	N	-	3	2	TTN	179106577	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.905000	0.63286	2.712000	0.92718	0.561000	0.74099	AAC		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	245	1	0	3.09899e-07	1	3.17744e-07	8	245					T	179398331	G	T	179398331	3	4	104	1	0	0	0	0	1	0	0	0	16789	1368	48	3	4988	3	TTN	2	179398331	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	12468267	179398331	63801042	24	35384											
LRRN1	57633	broad.mit.edu	37	chr3	3888153	3888153	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagactcaaaagtcatgcGtaaatgtcacaaccaaaaat	6	9	3	1	rs199850493	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:3888153G>A	ENST00000319331.3	+	2	2589	c.1828G>A	c.(1828-1830)Gta>Ata	p.V610I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	610	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					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)		AAAGTCATGCGTAAATGTCAC	0.458													G|||	2	0.000399361	0.0	0.0029	5008	,	,		22138	0.0		0.0	False		,,,				2504	0.0					ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1828-1830)Gta>Ata		leucine rich repeat neuronal 1							162	155	157					3																	3888153		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3888153G>A	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.1828G>A	3.37:g.3888153G>A	ENSP00000314901:p.Val610Ile					SUMF1_ENST00000534863.1_Intron	p.V610I	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2589	+			610			Fibronectin type-III.		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1828G>A	CCDS33685.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	8.266	0.812185	0.16537	.	.	ENSG00000175928	ENST00000319331	T	0.45276	0.9	5.5	4.63	0.57726	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.056986	0.64402	D	0.000001	T	0.23451	0.0567	N	0.13168	0.305	0.45161	D	0.998179	B	0.23990	0.095	B	0.13407	0.009	T	0.06770	-1.0808	10	0.18276	T	0.48	.	10.8023	0.46495	0.145:0.0:0.855:0.0	.	610	Q6UXK5	LRRN1_HUMAN	I	610	ENSP00000314901:V610I	ENSP00000314901:V610I	V	+	1	0	LRRN1	3863153	1.000000	0.71417	0.372000	0.25991	0.961000	0.63080	7.558000	0.82253	1.461000	0.47929	-0.145000	0.13849	GTA		0.458	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		5	495	0	0	0	1	0	5	495					A	3888153	G	A	3888153	3	1	104	1	0	0	0	0	1	0	0	0	9072	1145	40	1	1830	1	LRRN1	3	3888153	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		3888153	194134277	25	35385											
SCN5A	6331	broad.mit.edu	37	chr3	38601865	38601865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagccagaagatgaggcagaCgaggaggacgttcatgatgg	17	6	1	5	rs199473605		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:38601865C>T	ENST00000333535.4	-	23	4167	c.4018G>A	c.(4018-4020)Gtc>Atc	p.V1340I	SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1340					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)	ATGAGGCAGACGAGGAGGACG	0.577																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4018-4020)Gtc>Atc		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						112	106	108					3																	38601865		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38601865C>T	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.4018G>A	3.37:g.38601865C>T	ENSP00000328968:p.Val1340Ile					SCN5A_ENST00000333535.4_Missense_Mutation_p.V1340I|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000449557.2_Missense_Mutation_p.V1286I|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1339I|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1340I|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1339I|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1340I|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1339I	p.V1340I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	23	4211	-	Medulloblastoma(35;0.163)		1340					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.4018G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994698	0.93167	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.133960	0.49916	D	0.000126	D	0.98865	0.9616	M	0.80616	2.505	0.54753	D	0.999989	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;P	0.87578	0.977;0.995;0.984;0.991;0.996;0.998;0.859	D	0.99758	1.1020	10	0.87932	D	0	.	17.2234	0.86963	0.0:1.0:0.0:0.0	.	1286;1339;1340;1340;1340;1339;1340	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	I	1340;1339;1340;1286;1339;1340;1340;1339;1286;1286	ENSP00000398962:V1340I;ENSP00000398266:V1339I;ENSP00000410257:V1340I;ENSP00000388797:V1286I;ENSP00000397915:V1339I;ENSP00000416634:V1340I;ENSP00000328968:V1340I;ENSP00000399524:V1339I;ENSP00000403355:V1286I;ENSP00000413996:V1286I	ENSP00000328968:V1340I	V	-	1	0	SCN5A	38576869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.848000	0.69458	2.355000	0.79922	0.655000	0.94253	GTC		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		8	180	0	0	0	1	0	8	180					T	38601865	C	T	38601865	3	4	104	1	0	0	0	0	1	0	0	0	13972	536	19	1	2056	1	SCN5A	3	38601865	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	34713712	38601865	159420565	26	35386											
CDC25A	993	broad.mit.edu	37	chr3	48200922	48200923	+	Frame_Shift_Del	DEL	TC	TC	-													ggtattcattacccaggcgaTctctctctctcacataccgg							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48200922_48200923delTC	ENST00000302506.3	-	14	1753_1754	c.1345_1346delGA	c.(1345-1347)gatfs	p.D449fs	CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	449	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCCAGGCGATCTCTCTCTCTC	0.515																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(1345-1347)tfs		cell division cycle 25A																																				SO:0001589	frameshift_variant	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48200922_48200923delTC	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.1345_1346delGA	3.37:g.48200932_48200933delTC	ENSP00000303706:p.Asp449fs					CDC25A_ENST00000351231.3_Frame_Shift_Del_p.D409fs	p.D449fs	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	14	1753_1754	-			449			Rhodanese.		Q8IZH5|Q96IL3|Q9H2F2	Frame_Shift_Del	DEL	ENST00000302506.3	37	c.1345_1346delGA	CCDS2760.1																																																																																				0.515	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		7	402						7	402	---	---	---	---	-	48200923	TC	-	48200922	7	5	104	1	0	1	0	1	0	0	0	0	3071	1435	50	0	236	0	CDC25A	3	48200922	Frame_Shift_Del	DEL	TC	TCGA-LB-A9Q5-01A-11D-A397-08	9599057	48200922	149821508	27	35387											
SLC26A6	65010	broad.mit.edu	37	chr3	48667366	48667366	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgcaaccaccaagccaaggtCcaggttcagcaagatggtgg	12	12	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:48667366C>T	ENST00000395550.2	-	13	1515	c.1468G>A	c.(1468-1470)Gac>Aac	p.D490N	SLC26A6_ENST00000358747.6_Missense_Mutation_p.D469N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000482282.1_5'Flank|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	490					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AAGCCAAGGTCCAGGTTCAGC	0.607																																					NSCLC(13;369 479 28271 30152 44026)	ENST00000358747.6																		SLC26A6/PRKAR2A(2)	0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19						c.(1405-1407)Gac>Aac		solute carrier family 26 (anion exchanger), member 6							77	90	86					3																	48667366		2134	4237	6371	SO:0001583	missense	65010							g.chr3:48667366C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"Solute carriers"	14472	protein-coding gene	gene with protein product	"pendrin-like protein 1", "pendrin L1", "sulfate anion transporter", "anion transporter 1"	610068	"solute carrier family 26, member 6"			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1468G>A	3.37:g.48667366C>T	ENSP00000378920:p.Asp490Asn					SLC26A6_ENST00000383733.3_Missense_Mutation_p.D490N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D454N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D383N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D490N|SLC26A6_ENST00000395550.2_Missense_Mutation_p.D490N	p.D469N	NM_001040454.1	NP_001035544.1				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	12	1655	-								B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.1405G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416008	0.96092	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000421649	D;D;D;D;D;D;D	0.93859	-3.03;-3.03;-3.15;-2.99;-3.02;-3.12;-3.3	4.92	4.92	0.64577	.	.	.	.	.	D	0.97142	0.9066	M	0.86343	2.81	0.58432	D	0.999999	D;P;D;D;D;D;D	0.89917	1.0;0.952;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.97110	1.0;0.841;1.0;1.0;1.0;1.0;0.996	D	0.97654	1.0156	9	0.87932	D	0	.	18.6614	0.91473	0.0:1.0:0.0:0.0	.	454;503;383;490;490;490;3895	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	N	490;490;490;383;503;469;454;298	ENSP00000404684:D490N;ENSP00000378920:D490N;ENSP00000373239:D490N;ENSP00000337648:D383N;ENSP00000351597:D469N;ENSP00000401066:D454N;ENSP00000389922:D298N	ENSP00000337648:D383N	D	-	1	0	SLC26A6	48642370	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.298000	0.59067	2.699000	0.92147	0.655000	0.94253	GAC		0.607	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		12	205	0	0	0	1	0	12	205					T	48667366	C	T	48667366	3	4	104	1	0	0	0	0	1	0	0	0	14571	855	30	2	883	2	SLC26A6	3	48667366	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	466444	48667366	149355064	28	35388											
ATXN7	6314	broad.mit.edu	37	chr3	63973881	63973881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagcctctcagggacccGcatcccgcccctcctagaac	8	21	1	1	rs190142927		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:63973881G>A	ENST00000295900.6	+	9	1792	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P	ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000398590.3_Silent_p.P414P|ATXN7_ENST00000538065.1_Silent_p.P414P	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	414	Pro-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGACCCGCATCCCGCCC	0.512													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15015	0.0		0.0	False		,,,				2504	0.0					ENST00000398590.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35						c.(1240-1242)ccG>ccA		ataxin 7							110	125	121					3																	63973881		1947	4138	6085	SO:0001819	synonymous_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63973881G>A	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"Ataxins"	10560	protein-coding gene	gene with protein product		607640	"spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1242G>A	3.37:g.63973881G>A						ATXN7_ENST00000538065.1_Silent_p.P414P|ATXN7_ENST00000487717.1_Silent_p.P414P|ATXN7_ENST00000484332.1_Silent_p.P269P|ATXN7_ENST00000295900.6_Silent_p.P414P	p.P414P	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	9	1795	+		Prostate(884;0.0181)	414			Pro-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Silent	SNP	ENST00000295900.6	37	c.1242G>A	CCDS43102.1																																																																																				0.512	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		6	805	0	0	0	1	0	6	805					A	63973881	G	A	63973881	2	1	104	1	0	0	0	0	0	0	0	1	1216	1074	38	1		1	ATXN7	3	63973881	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	15306515	63973881	134048549	29	35389											
OR5K1	26339	broad.mit.edu	37	chr3	98188534	98188534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttgccatctatctgatcacCgtggtggggaatattagttt	10	7	3	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:98188534C>T	ENST00000332650.5	+	1	211	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433																																						ENST00000332650.5																			2	Substitution - coding silent(2)	p.T38T(2)	lung(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(112-114)acC>acT		olfactory receptor, family 5, subfamily K, member 1							166	165	166					3																	98188534		2203	4297	6500	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98188534C>T	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.114C>T	3.37:g.98188534C>T							p.T38T	NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN			1	211	+			38					B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.114C>T	CCDS43115.1																																																																																				0.433	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1			21	736	0	0	0	1	0	21	736					T	98188534	C	T	98188534	2	4	104	1	0	0	0	0	0	0	0	1	11208	639	23	1		1	OR5K1	3	98188534	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	34214653	98188534	99833896	30	35390											
C3orf15	89876	broad.mit.edu	37	chr3	119428733	119428733	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccattcaatgttgtttatgCcgtatccaagtaagtaacca	7	9	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:119428733C>T	ENST00000273390.5	+	5	568	c.491C>T	c.(490-492)gCc>gTc	p.A164V	MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	164						mitochondrion (GO:0005739)											GTTGTTTATGCCGTATCCAAG	0.328																																						ENST00000273390.5																			0											c.(490-492)gCc>gTc		MYCBP-associated, testis expressed 1							205	201	203					3																	119428733		2202	4300	6502	SO:0001583	missense	89876							g.chr3:119428733C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"AMY-1-associating protein expressed in testis 1", "MYCBP-binding protein", "spermatogenesis associated 26"	609910	"chromosome 3 open reading frame 15", "MYCBP/AMY-1-associated, testis expressed 1"	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.491C>T	3.37:g.119428733C>T	ENSP00000273390:p.Ala164Val					MAATS1_ENST00000463700.1_Missense_Mutation_p.A164V	p.A164V	NM_033364.3	NP_203528.2					5	568	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.491C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.014	0.758185	0.15846	.	.	ENSG00000183833	ENST00000273390;ENST00000463700	T;T	0.50813	1.72;0.73	5.34	4.46	0.54185	.	0.368951	0.29417	N	0.012220	T	0.46092	0.1375	L	0.47716	1.5	0.34195	D	0.672468	B;P;B;P;B	0.39480	0.291;0.604;0.113;0.675;0.383	B;B;B;B;B	0.42771	0.316;0.397;0.062;0.298;0.116	T	0.58340	-0.7653	10	0.30078	T	0.28	-10.2043	14.624	0.68608	0.1473:0.8527:0.0:0.0	.	164;102;164;164;164	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7;Q7Z4T9-2	AAT1_HUMAN;.;.;.;.	V	164	ENSP00000273390:A164V;ENSP00000419489:A164V	ENSP00000273390:A164V	A	+	2	0	C3orf15	120911423	0.211000	0.23529	0.517000	0.27799	0.473000	0.32948	1.353000	0.34045	1.372000	0.46190	0.655000	0.94253	GCC		0.328	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	401	0	0	0	1	0	5	401					T	119428733	C	T	119428733	3	4	104	1	0	0	0	0	1	0	0	0	2216	739	26	2	509	2	C3orf15	3	119428733	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	21240199	119428733	78593697	31	35391											
PLXNA1	5361	broad.mit.edu	37	chr3	126732924	126732924	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtcagtcgtgtggaacgGcaactttgtcattgacaacc	10	11	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:126732924G>A	ENST00000393409.2	+	10	2375	c.2375G>A	c.(2374-2376)gGc>gAc	p.G792D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	792					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)		GTGTGGAACGGCAACTTTGTC	0.632																																						ENST00000393409.2																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(2374-2376)gGc>gAc		plexin A1							147	142	144					3																	126732924		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126732924G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2375G>A	3.37:g.126732924G>A	ENSP00000377061:p.Gly792Asp					PLXNA1_ENST00000251772.4_Missense_Mutation_p.G769D	p.G792D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	10	2375	+			792						Missense_Mutation	SNP	ENST00000393409.2	37	c.2375G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380294	0.82682	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.71222	-0.55;-0.55	2.87	2.87	0.33458	.	1.820450	0.02776	N	0.120250	D	0.84447	0.5474	M	0.85373	2.75	0.80722	D	1	P	0.45715	0.865	P	0.52710	0.707	T	0.76318	-0.3003	10	0.87932	D	0	.	14.5372	0.67969	0.0:0.0:1.0:0.0	.	792	Q9UIW2	PLXA1_HUMAN	D	792;769	ENSP00000377061:G792D;ENSP00000251772:G769D	ENSP00000251772:G769D	G	+	2	0	PLXNA1	128215614	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.506000	0.66993	1.912000	0.55364	0.491000	0.48974	GGC		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		6	630	0	0	0	1	0	6	630					A	126732924	G	A	126732924	3	1	104	1	0	0	0	0	1	0	0	0	12161	1203	42	2	2413	2	PLXNA1	3	126732924	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	7304191	126732924	71289506	32	35392											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	20	2	0	4			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		4	261	0	0	0	1	0	4	261					A	129695840	G	A	129695840	2	1	104	1	0	0	0	0	0	0	0	1	16531	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	2962916	129695840	68326590	33	35393											
RBP1	5947	broad.mit.edu	37	chr3	139257784	139257784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaagttggcgattttgcGcaaggccacattgacgtctg	12	10	1	1	rs565159052		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr3:139257784G>A	ENST00000483943.2	-	2	277	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000381790.3_RNA	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	31					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Acitretin(DB00459)|Vitamin A(DB00162)	GCGATTTTGCGCAAGGCCACA	0.552																																						ENST00000483943.2																			0				endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5						c.(277-279)Cgc>Tgc		retinol binding protein 1, cellular	Vitamin A(DB00162)						162	142	148					3																	139257784		2203	4300	6503	SO:0001583	missense	5947					cytoplasm	retinal binding|retinol binding|transporter activity	g.chr3:139257784G>A		CCDS3110.2, CCDS46925.1, CCDS46926.1	3q21-q23	2013-03-01	2001-11-28		ENSG00000114115	ENSG00000114115		"Fatty acid binding protein family"	9919	protein-coding gene	gene with protein product		180260	"retinol-binding protein 1, cellular"			1654334, 9858824	Standard	NM_002899		Approved	CRABP-I, CRBP1, CRBP, RBPC, CRBPI	uc003eti.2	P09455	OTTHUMG00000155751	ENST00000483943.2:c.277C>T	3.37:g.139257784G>A	ENSP00000424813:p.Arg93Cys					RBP1_ENST00000232219.2_Missense_Mutation_p.R93C|RBP1_ENST00000492918.1_Missense_Mutation_p.R93C|RP11-319G6.1_ENST00000515247.1_RNA	p.R93C	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN			2	277	-			31					A8K2Q0|B7Z7A0|E7EWV0|F2Z2F2|Q6FGX8	Missense_Mutation	SNP	ENST00000483943.2	37	c.277C>T	CCDS46925.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.975146	0.74360	.	.	ENSG00000114115	ENST00000232219;ENST00000483943;ENST00000492918	T;T;T	0.09630	2.96;2.96;2.96	5.15	3.16	0.36331	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.135740	0.44483	D	0.000456	T	0.36936	0.0985	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.996	T	0.22452	-1.0216	10	0.87932	D	0	.	5.8333	0.18593	0.1029:0.0:0.5208:0.3763	.	93;93;31	F2Z2F2;E7EWV0;P09455	.;.;RET1_HUMAN	C	93	ENSP00000232219:R93C;ENSP00000424813:R93C;ENSP00000429166:R93C	ENSP00000232219:R93C	R	-	1	0	RBP1	140740474	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.512000	0.60469	1.163000	0.42636	0.455000	0.32223	CGC		0.552	RBP1-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341497.2	NM_002899		5	459	0	0	0	1	0	5	459					A	139257784	G	A	139257784	3	1	104	1	0	0	0	0	1	0	0	0	13205	1087	38	1	396	1	RBP1	3	139257784	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	9561944	139257784	58764646	34	35394											
HAUS3	79441	broad.mit.edu	37	chr4	2242634	2242634	+	Frame_Shift_Del	DEL	T	T	-													atcagctttgggataaccaaTtttttttaatgtttccacaa							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:2242634delT	ENST00000243706.4	-	2	269	c.40delA	c.(40-42)attfs	p.I14fs	HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	14					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)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGATAACCAATTTTTTTTAAT	0.353																																						ENST00000243706.4																			0				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(40-42)ttfs		HAUS augmin-like complex, subunit 3							64	64	64					4																	2242634		2203	4300	6503	SO:0001589	frameshift_variant	79441				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr4:2242634delT	AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.40delA	4.37:g.2242634delT	ENSP00000243706:p.Ile14fs					HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs	p.I14fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN			2	269	-			14					B4DF64|O43606|Q8TAZ5|Q9BTJ9	Frame_Shift_Del	DEL	ENST00000243706.4	37	c.40delA	CCDS33941.1																																																																																				0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511		7	521						7	521	---	---	---	---	-	2242634	T	-	2242634	7	5	104	1	0	1	0	1	0	0	0	0	6997	1493	52	0	1787	0	HAUS3	4	2242634	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08		2242634	188911642	35	35395											
C4orf14	84273	broad.mit.edu	37	chr4	57829747	57829747	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atatggcaagagagggggccGgacggtcaaaactgttcctt	14	8	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:57829747G>A	ENST00000264230.4	-	7	3203	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	RP11-738E22.3_ENST00000602820.1_lincRNA	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	656					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)										AGAGGGGGCCGGACGGTCAAA	0.458																																						ENST00000264230.4																			0											c.(1966-1968)Cgg>Tgg		nitric oxide associated 1							115	121	119					4																	57829747		2203	4300	6503	SO:0001583	missense	84273						GTP binding	g.chr4:57829747G>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1966C>T	4.37:g.57829747G>A	ENSP00000264230:p.Arg656Trp						p.R656W	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			7	3203	-			656					Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	c.1966C>T	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611783	0.87258	.	.	ENSG00000084092	ENST00000264230	T	0.59083	0.29	5.41	5.41	0.78517	.	0.066423	0.64402	D	0.000010	T	0.80717	0.4676	M	0.89287	3.02	0.32518	N	0.536693	D	0.89917	1.0	D	0.72075	0.976	D	0.85800	0.1373	10	0.87932	D	0	.	19.1586	0.93522	0.0:0.0:1.0:0.0	.	656	Q8NC60	CD014_HUMAN	W	656	ENSP00000264230:R656W	ENSP00000264230:R656W	R	-	1	2	C4orf14	57524504	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.101000	0.64566	2.681000	0.91329	0.655000	0.94253	CGG		0.458	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		5	525	0	0	0	1	0	5	525					A	57829747	G	A	57829747	3	1	104	1	0	0	0	0	1	0	0	0	2258	1115	39	1	134	1	C4orf14	4	57829747	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	55587113	57829747	133324529	36	35396											
TIGD4	201798	broad.mit.edu	37	chr4	153691501	153691501	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagccatccatgtttgtgCcaaccaccagagttattctg	8	12	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:153691501C>T	ENST00000304337.2	-	2	1476	c.656G>A	c.(655-657)gGc>gAc	p.G219D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	219	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATGTTTGTGCCAACCACCAG	0.383																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(655-657)gGc>gAc		tigger transposable element derived 4							130	126	127					4																	153691501		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691501C>T	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.656G>A	4.37:g.153691501C>T	ENSP00000355162:p.Gly219Asp						p.G219D	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1476	-	all_hematologic(180;0.093)		219			DDE.		Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.656G>A	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700135	0.48307	.	.	ENSG00000169989	ENST00000304337	T	0.45668	0.89	5.7	5.7	0.88788	.	0.000000	0.45606	D	0.000356	T	0.54663	0.1872	L	0.42245	1.32	0.39632	D	0.970195	D	0.71674	0.998	D	0.63488	0.915	T	0.54098	-0.8344	10	0.54805	T	0.06	-14.807	15.3392	0.74282	0.0:0.8607:0.1393:0.0	.	219	Q8IY51	TIGD4_HUMAN	D	219	ENSP00000355162:G219D	ENSP00000355162:G219D	G	-	2	0	TIGD4	153910951	0.913000	0.31002	0.982000	0.44146	0.990000	0.78478	3.804000	0.55568	2.861000	0.98227	0.655000	0.94253	GGC		0.383	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		5	631	0	0	0	1	0	5	631					T	153691501	C	T	153691501	3	4	104	1	0	0	0	0	1	0	0	0	15950	739	26	2	886	2	TIGD4	4	153691501	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	95861754	153691501	37462775	37	35397											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del	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)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		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					SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000437304.2_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		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)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	316						7	316	---	---	---	---	-	186544622	GGT	-	186544620	7	5	104	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-LB-A9Q5-01A-11D-A397-08	32853119	186544620	4609656	38	35398											
DNAH5	1767	broad.mit.edu	37	chr5	13891148	13891148	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagctgacaaagaggCgtgctgctcatttcttctag	13	8	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	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)					GACAAAGAGGCGTGCTGCTCA	0.408									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(2512-2514)acG>acA		dynein, axonemal, heavy chain 5							101	109	107					5																	13891148		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13891148C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2514G>A	5.37:g.13891148C>T						CTB-51A17.1_ENST00000503244.1_RNA	p.T838T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			17	2618	-	Lung NSC(4;0.00476)		838			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.2514G>A	CCDS3882.1																																																																																				0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		12	639	0	0	0	1	0	12	639					T	13891148	C	T	13891148	2	4	104	1	0	0	0	0	0	0	0	1	4620	755	27	1		1	DNAH5	5	13891148	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		13891148	167024112	39	35399											
EGR1	1958	broad.mit.edu	37	chr5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-													ccagagggcagcggcagcaaCagcagcagcagcagcagcgg					rs555024246|rs140268489		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:137801633_137801635delCAG	ENST00000239938.4	+	1	455_457	c.183_185delCAG	c.(181-186)aacagc>aac	p.S67del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	67	Gly/Ser-rich.				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)			gcggcagcaacagcagcagcagc	0.7																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(181-186)aac>aa		early growth response 1																																				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801633_137801635delCAG	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.183_185delCAG	5.37:g.137801642_137801644delCAG	ENSP00000239938:p.Ser67del						p.NS61del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	455_457	+			61			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.183_185delCAG	CCDS4206.1																																																																																				0.7	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		7	225						7	225	---	---	---	---	-	137801635	CAG	-	137801633	7	5	104	1	0	1	0	1	0	0	0	0	4987	477	17	0	185	0	EGR1	5	137801633	In_Frame_Del	DEL	CAG	TCGA-LB-A9Q5-01A-11D-A397-08	123910485	137801633	43113627	40	35400											
GALNT10	55568	broad.mit.edu	37	chr5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttggcttcttcagaccGcattgctcggaaccgcaaga	9	13	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	253	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(757-759)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							180	154	163					5																	153760011		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760011G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.758G>A	5.37:g.153760011G>A	ENSP00000297107:p.Arg253His					GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000519544.1_3'UTR	p.R253H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	895	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	253			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.758G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	GALNT10	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	583	0	0	0	1	0	5	583					A	153760011	G	A	153760011	3	1	104	1	0	0	0	0	1	0	0	0	6236	1087	38	1	780	1	GALNT10	5	153760011	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	15958378	153760011	27155249	41	35401											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212|rs368069269	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		8	307						8	307	---	---	---	---	-	7393452	GAC	-	7393450	7	5	104	1	0	1	0	1	0	0	0	0	13427	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-LB-A9Q5-01A-11D-A397-08		7393450	163721617	42	35402											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttggatgagatgCcggtgtcggggtggacctgc	17	10	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547																																						ENST00000357905.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(160-162)gGc>gAc		histone cluster 1, H2bb							194	188	190					6																	26043725		2203	4300	6503	SO:0001583	missense	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043725C>T	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"Histones / Replication-dependent"	4751	protein-coding gene	gene with protein product		602803	"H2B histone family, member F", "histone 1, H2bb"	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.161G>A	6.37:g.26043725C>T	ENSP00000350580:p.Gly54Asp						p.G54D	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN			1	160	-			54					Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	c.161G>A	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.578593	0.28180	.	.	ENSG00000196226	ENST00000357905	T	0.69435	-0.4	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.82770	0.5109	M	0.93150	3.385	0.58432	D	0.99999	P	0.42161	0.772	P	0.56700	0.804	D	0.86555	0.1837	10	0.87932	D	0	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	54	P33778	H2B1B_HUMAN	D	54	ENSP00000350580:G54D	ENSP00000350580:G54D	G	-	2	0	HIST1H2BB	26151704	1.000000	0.71417	0.578000	0.28575	0.003000	0.03518	7.779000	0.85648	2.498000	0.84270	0.467000	0.42956	GGC		0.547	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		6	898	0	0	0	1	0	6	898					T	26043725	C	T	26043725	3	4	104	1	0	0	0	0	1	0	0	0	7171	739	26	2	223	2	HIST1H2BB	6	26043725	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	18650275	26043725	145071342	43	35403											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		13	248						13	248	---	---	---	---	-	30653496	TGC	-	30653494	7	5	104	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-LB-A9Q5-01A-11D-A397-08	4609769	30653494	140461573	44	35404											
TCP11	6954	broad.mit.edu	37	chr6	35088799	35088799	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatgtccattttcatcCggcccagaacctggaagatc	7	14	2	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:35088799C>T	ENST00000512012.1	-	5	758	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	TCP11_ENST00000311875.5_Missense_Mutation_p.R214Q|TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	201					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CATTTTCATCCGGCCCAGAAC	0.453																																						ENST00000311875.5																			0				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						c.(640-642)cGg>cAg		t-complex 11, testis-specific							150	152	152					6																	35088799		2203	4300	6503	SO:0001583	missense	6954				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr6:35088799C>T		CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.602G>A	6.37:g.35088799C>T	ENSP00000425995:p.Arg201Gln					TCP11_ENST00000444780.2_Missense_Mutation_p.R209Q|TCP11_ENST00000412155.2_Missense_Mutation_p.R163Q|TCP11_ENST00000373979.2_Missense_Mutation_p.R139Q|TCP11_ENST00000244645.3_Missense_Mutation_p.R139Q|TCP11_ENST00000512012.1_Missense_Mutation_p.R201Q|TCP11_ENST00000418521.2_Missense_Mutation_p.R138Q|TCP11_ENST00000373974.4_Missense_Mutation_p.R168Q	p.R214Q			Q8WWU5	TCP11_HUMAN			6	1058	-			201					B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	ENST00000512012.1	37	c.641G>A		.	.	.	.	.	.	.	.	.	.	C	15.91	2.971417	0.53614	.	.	ENSG00000124678	ENST00000373979;ENST00000412155;ENST00000244645;ENST00000373977;ENST00000311875;ENST00000444780;ENST00000373974;ENST00000418521;ENST00000512012;ENST00000486638	T;T;T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84;2.84	4.32	1.82	0.25136	.	0.185314	0.36519	N	0.002545	T	0.00754	0.0025	N	0.00707	-1.245	0.22366	N	0.999167	B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.0	B;B;B;B;B;B	0.11329	0.0;0.0;0.0;0.006;0.002;0.0	T	0.47275	-0.9130	10	0.18276	T	0.48	-19.5481	7.189	0.25814	0.7046:0.1469:0.0:0.1485	.	168;163;209;274;201;139	B7Z7G1;E7EP29;B7Z7B5;Q5TB88;Q8WWU5;Q8WWU5-2	.;.;.;.;TCP11_HUMAN;.	Q	139;163;139;163;214;209;168;138;201;60	ENSP00000363091:R139Q;ENSP00000402816:R163Q;ENSP00000244645:R139Q;ENSP00000308708:R214Q;ENSP00000404479:R209Q;ENSP00000363085:R168Q;ENSP00000415320:R138Q;ENSP00000425995:R201Q;ENSP00000421103:R60Q	ENSP00000244645:R139Q	R	-	2	0	TCP11	35196777	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.709000	0.54853	0.265000	0.21872	-0.375000	0.07067	CGG		0.453	TCP11-014	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000370354.1	NM_001093728		24	562	0	0	0	1	0	24	562					T	35088799	C	T	35088799	3	4	104	1	0	0	0	0	1	0	0	0	15765	652	23	1	929	1	TCP11	6	35088799	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	4435305	35088799	136026268	45	35405											
RUNX2	860	broad.mit.edu	37	chr6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-													agcaacagcagcagcagcaaCagcagcagcagcagcagcaa							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(175-177)del		runt-related transcription factor 2																																				SO:0001651	inframe_deletion	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390446_45390448delCAG	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.175_177delCAG	6.37:g.45390455_45390457delCAG	ENSP00000360493:p.Gln71del					RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del	p.Q71del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	533_535	+			71			Poly-Gln.		O14614|O14615|O95181	In_Frame_Del	DEL	ENST00000371438.1	37	c.175_177delCAG	CCDS43467.2																																																																																				0.729	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		9	131						9	131	---	---	---	---	-	45390448	CAG	-	45390446	7	5	104	1	0	1	0	1	0	0	0	0	13798	479	17	0	197	0	RUNX2	6	45390446	In_Frame_Del	DEL	CAG	TCGA-LB-A9Q5-01A-11D-A397-08	10301647	45390446	125724621	46	35406											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		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)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	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.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		7	816						7	816	---	---	---	---	T	129959603	-	T	129959602	7	5	104	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-LB-A9Q5-01A-11D-A397-08	84569156	129959602	41155465	47	35407											
ABCA13	154664	broad.mit.edu	37	chr7	48494876	48494876	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accagcgggccgagacctacTttttcaggtaagttgttttt	10	9	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:48494876T>C	ENST00000435803.1	+	43	12832	c.12808T>C	c.(12808-12810)Ttt>Ctt	p.F4270L	ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4270					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						CGAGACCTACTTTTTCAGGTA	0.463																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(12808-12810)Ttt>Ctt		ATP-binding cassette, sub-family A (ABC1), member 13							24	27	26					7																	48494876		1902	4092	5994	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48494876T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12808T>C	7.37:g.48494876T>C	ENSP00000411096:p.Phe4270Leu					ABCA13_ENST00000544596.1_Missense_Mutation_p.F30L	p.F4270L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			43	12832	+			4270					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.12808T>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087255	0.55968	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.91407	-2.32;-2.39;-2.84	5.0	5.0	0.66597	.	0.000000	0.49916	D	0.000134	D	0.94984	0.8377	M	0.86420	2.815	0.44234	D	0.997078	P;D;D	0.69078	0.745;0.99;0.997	P;D;D	0.75020	0.652;0.909;0.985	D	0.94276	0.7515	10	0.35671	T	0.21	.	11.3979	0.49854	0.0:0.0:0.0:1.0	.	30;1972;4270	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	L	4270;73;30	ENSP00000411096:F4270L;ENSP00000391042:F73L;ENSP00000442634:F30L	ENSP00000391042:F73L	F	+	1	0	ABCA13	48465422	1.000000	0.71417	0.964000	0.40570	0.174000	0.22865	4.818000	0.62657	2.006000	0.58801	0.459000	0.35465	TTT		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	71	0	0	0	1	0	7	71					C	48494876	T	C	48494876	3	2	104	1	0	0	0	0	1	0	0	0	31	1609	56	4	12807	4	ABCA13	7	48494876	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08		48494876	110643787	48	35408											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	11	12	1	1	rs147859349		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:72398976A>G	ENST00000434423.2	+	4	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000395270.1_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16715	0.0		0.0	False		,,,				2504	0.0					ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(280-282)aAt>aGt		POM121 transmembrane nucleoporin							189	188	188					7																	72398976		2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72398976A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"-"	19702	protein-coding gene	gene with protein product		615753	"POM121 membrane glycoprotein (rat)", "POM121 membrane glycoprotein"			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1076A>G	7.37:g.72398976A>G	ENSP00000405562:p.Asn359Ser					POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			7	1322	+		Lung NSC(55;0.163)	359			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.281A>G		.	.	.	.	.	.	.	.	.	.	G	12.65	2.002131	0.35320	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	3.99	3.99	0.46301	.	0.154071	0.30020	N	0.010614	T	0.13457	0.0326	L	0.57536	1.79	0.32153	N	0.584002	B;B	0.31193	0.312;0.006	B;B	0.26202	0.067;0.053	T	0.08066	-1.0740	10	0.30078	T	0.28	.	10.8045	0.46509	1.0:0.0:0.0:0.0	.	94;359	A8MXF9;Q96HA1	.;P121A_HUMAN	S	94;94;94;94;359	ENSP00000393020:N94S;ENSP00000257622:N94S;ENSP00000378687:N94S;ENSP00000351124:N94S;ENSP00000405562:N359S	ENSP00000257622:N94S	N	+	2	0	POM121	72036912	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	5.143000	0.64826	1.663000	0.50791	0.373000	0.22412	AAT		0.468	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			6	1152	0	0	0	1	0	6	1152					G	72398976	A	G	72398976	3	3	104	1	0	0	0	0	1	0	0	0	12281	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-LB-A9Q5-01A-11D-A397-08	23904100	72398976	86739687	49	35409											
PIK3CG	5294	broad.mit.edu	37	chr7	106508683	106508683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttcatcgtcattcaccGcagcaccaccagccagacca	5	18	4	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:106508683G>A	ENST00000359195.3	+	2	987	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	226	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCATTCACCGCAGCACCACC	0.572																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(676-678)cGc>cAc		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							115	118	117					7																	106508683		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508683G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.677G>A	7.37:g.106508683G>A	ENSP00000352121:p.Arg226His					PIK3CG_ENST00000440650.2_Missense_Mutation_p.R226H|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R226H	p.R226H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	987	+			226					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.677G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543339	0.27563	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70282	-0.47;-0.47;-0.47	5.5	5.5	0.81552	Phosphoinositide 3-kinase, ras-binding (2);	0.132697	0.56097	D	0.000040	T	0.64114	0.2569	L	0.44542	1.39	0.43564	D	0.995886	P	0.50066	0.931	P	0.45377	0.478	T	0.59150	-0.7508	10	0.14252	T	0.57	-24.9223	13.0307	0.58840	0.074:0.0:0.926:0.0	.	226	P48736	PK3CG_HUMAN	H	226	ENSP00000392258:R226H;ENSP00000419260:R226H;ENSP00000352121:R226H	ENSP00000352121:R226H	R	+	2	0	PIK3CG	106295919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.392000	0.59659	2.736000	0.93811	0.591000	0.81541	CGC		0.572	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			5	475	0	0	0	1	0	5	475					A	106508683	G	A	106508683	3	1	104	1	0	0	0	0	1	0	0	0	11958	1087	38	1	679	1	PIK3CG	7	106508683	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	34109707	106508683	52629980	50	35410											
PDIA4	9601	broad.mit.edu	37	chr7	148702234	148702234	+	Splice_Site	DEL	T	T	-													gccccagccacgggctcaccTtttttgaaagcagtgacaaa							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr7:148702234delT	ENST00000286091.4	-	9	1753	c.1521delA	c.(1519-1521)aaa>aa	p.K507fs		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	507	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)			CGGGCTCACCTTTTTTGAAAG	0.612																																						ENST00000286091.4																			0				large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24						c.e9+1		protein disulfide isomerase family A, member 4							110	110	110					7																	148702234		2203	4300	6503	SO:0001630	splice_region_variant	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702234delT	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.1522+1A>-	7.37:g.148702234delT							p.K507_splice	NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1753	-	Melanoma(164;0.15)		507			Thioredoxin 3.		A8K4K6|Q549T6	Splice_Site	DEL	ENST00000286091.4	37	c.1522_splice	CCDS5893.1																																																																																				0.612	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911	Frame_Shift_Del	7	806						7	806	---	---	---	---	-	148702234	T	-	148702234	8	5	104	1	0	1	0	1	0	0	1	0	11712	1623	56	0	424	0	PDIA4	7	148702234	Splice_Site	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08	42193551	148702234	10436429	51	35411											
MYOM2	9172	broad.mit.edu	37	chr8	2041906	2041906	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagacgtcataaaagtgCaggccgcactcagtaagtca	9	10	4	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:2041906C>T	ENST00000262113.4	+	17	2254	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	705	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)		CATAAAAGTGCAGGCCGCACT	0.488																																						ENST00000262113.4																			0				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						c.(2113-2115)Cag>Tag		myomesin 2							164	134	144					8																	2041906		2203	4300	6503	SO:0001587	stop_gained	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2041906C>T		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.2113C>T	8.37:g.2041906C>T	ENSP00000262113:p.Gln705*					MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Q130*	p.Q705*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	17	2254	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	705					Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	c.2113C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297700	0.60086	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.44	5.44	0.79542	.	0.157344	0.48286	D	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1534	0.65401	0.1499:0.8501:0.0:0.0	.	.	.	.	X	705;130	.	ENSP00000262113:Q705X	Q	+	1	0	MYOM2	2029313	1.000000	0.71417	0.998000	0.56505	0.034000	0.12701	2.879000	0.48522	2.558000	0.86282	0.655000	0.94253	CAG		0.488	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		8	254	0	0	0	1	0	8	254					T	2041906	C	T	2041906	4	4	104	1	0	0	0	0	0	1	0	0	10133	711	25	2	2175	2	MYOM2	8	2041906	Nonsense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		2041906	144322116	52	35412											
TEX15	56154	broad.mit.edu	37	chr8	30705431	30705431	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cataattttgatttattttcCccaatttcagttccattagc	3	9	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:30705431C>T	ENST00000256246.2	-	1	1177	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	368					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)		ATTTATTTTCCCCAATTTCAG	0.383																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1102-1104)gGg>gAg		testis expressed 15							77	75	76					8																	30705431		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30705431C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1103G>A	8.37:g.30705431C>T	ENSP00000256246:p.Gly368Glu						p.G368E	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	1177	-			368						Missense_Mutation	SNP	ENST00000256246.2	37	c.1103G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.000801	0.00431	.	.	ENSG00000133863	ENST00000256246	T	0.08193	3.12	5.51	-1.54	0.08584	.	0.673251	0.14063	N	0.343910	T	0.02156	0.0067	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	10	0.87932	D	0	.	1.294	0.02066	0.1349:0.2395:0.1397:0.4859	.	368	Q9BXT5	TEX15_HUMAN	E	368	ENSP00000256246:G368E	ENSP00000256246:G368E	G	-	2	0	TEX15	30824973	0.043000	0.20138	0.001000	0.08648	0.169000	0.22640	0.166000	0.16583	-0.412000	0.07519	-0.312000	0.09012	GGG		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			14	369	0	0	0	1	0	14	369					T	30705431	C	T	30705431	3	4	104	1	0	0	0	0	1	0	0	0	15831	623	22	2	7282	2	TEX15	8	30705431	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	28663525	30705431	115658591	53	35413											
TACC1	6867	broad.mit.edu	37	chr8	38677137	38677137	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatgaagtgccacagcaGgccattgactctcactcagt	9	11	2	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:38677137G>A	ENST00000317827.4	+	3	754	c.375G>A	c.(373-375)caG>caA	p.Q125Q	TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Silent_p.Q80Q|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000379931.3_Silent_p.Q125Q	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	125					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGCCACAGCAGGCCATTGACT	0.383																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(373-375)caG>caA		transforming, acidic coiled-coil containing protein 1							70	64	66					8																	38677137		2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677137G>A	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.375G>A	8.37:g.38677137G>A						TACC1_ENST00000330691.6_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000443286.2_Silent_p.Q141Q|TACC1_ENST00000317827.4_Silent_p.Q125Q|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520340.1_Silent_p.Q89Q|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000518415.1_Silent_p.Q80Q	p.Q125Q			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	754	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	125					B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.375G>A	CCDS6109.1																																																																																				0.383	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		10	366	0	0	0	1	0	10	366					A	38677137	G	A	38677137	2	1	104	1	0	0	0	0	0	0	0	1	15553	991	35	2		2	TACC1	8	38677137	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	7971706	38677137	107686885	54	35414											
ADAM2	2515	broad.mit.edu	37	chr8	39624518	39624518	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaatattcagggaggtcGcattcttcaaaggaaggcct	11	8	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:39624518G>A	ENST00000265708.4	-	14	1459	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000521880.1_Silent_p.C452C|ADAM2_ENST00000379853.2_Silent_p.C326C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(1354-1356)tgC>tgT		ADAM metallopeptidase domain 2							157	140	146					8																	39624518		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624518G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1356C>T	8.37:g.39624518G>A						ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000379853.2_Silent_p.C326C|ADAM2_ENST00000521880.1_Silent_p.C452C	p.C452C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1459	-		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)	452			Disintegrin.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1356C>T	CCDS34884.1																																																																																				0.398	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		7	607	0	0	0	1	0	7	607					A	39624518	G	A	39624518	2	1	104	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39624518	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	947381	39624518	106739504	55	35415											
TPD52	7163	broad.mit.edu	37	chr8	80954871	80954871	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctttaagttttcgaccTtttcttcaaatgatttaaaa	4	7	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:80954871T>G	ENST00000379097.3	-	5	901	c.539A>C	c.(538-540)aAg>aCg	p.K180T	TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000379096.5_Missense_Mutation_p.K140T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	180					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)			GTTTTCGACCTTTTCTTCAAA	0.308																																						ENST00000379096.5																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8						c.(418-420)aAg>aCg		tumor protein D52							112	116	115					8																	80954871		2203	4299	6502	SO:0001583	missense	7163				anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr8:80954871T>G	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.539A>C	8.37:g.80954871T>G	ENSP00000368391:p.Lys180Thr					TPD52_ENST00000519303.2_Missense_Mutation_p.K16T|TPD52_ENST00000520527.1_Missense_Mutation_p.K203T|TPD52_ENST00000518937.1_Missense_Mutation_p.K163T|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000517427.1_Missense_Mutation_p.K189T|TPD52_ENST00000537855.1_Missense_Mutation_p.K180T|TPD52_ENST00000379097.3_Missense_Mutation_p.K180T|TPD52_ENST00000448733.2_Missense_Mutation_p.K194T	p.K140T	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)		5	533	-	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)	180					B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Missense_Mutation	SNP	ENST00000379097.3	37	c.419A>C	CCDS34912.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807809	0.70797	.	.	ENSG00000076554	ENST00000537855;ENST00000379096;ENST00000518937;ENST00000520527;ENST00000517427;ENST00000448733;ENST00000379097;ENST00000425513;ENST00000519303	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	5.11	5.11	0.69529	.	0.143577	0.64402	D	0.000008	T	0.56016	0.1957	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.81914	0.925;0.982;0.995	T	0.61397	-0.7071	10	0.66056	D	0.02	-31.5479	9.074	0.36511	0.0:0.0816:0.0:0.9184	.	140;163;180	P55327-2;E5RKB4;P55327	.;.;TPD52_HUMAN	T	180;140;163;203;189;194;180;140;16	ENSP00000438113:K180T;ENSP00000368390:K140T;ENSP00000429915:K163T;ENSP00000429309:K203T;ENSP00000429351:K189T;ENSP00000410222:K194T;ENSP00000368391:K180T;ENSP00000428951:K16T	ENSP00000368390:K140T	K	-	2	0	TPD52	81117426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.512000	0.53407	2.265000	0.75225	0.482000	0.46254	AAG		0.308	TPD52-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379539.2	NM_005079		11	274	0	0	0	1	0	11	274					G	80954871	T	G	80954871	3	3	104	1	0	0	0	0	1	0	0	0	16450	1609	56	4	143	4	TPD52	8	80954871	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08	41330353	80954871	65409151	56	35416											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					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)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	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.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	906						7	906	---	---	---	---	-	105440214	T	-	105440214	7	5	104	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08	24485343	105440214	40923808	57	35417											
SCRIB	23513	broad.mit.edu	37	chr8	144895217	144895217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccgggggcagtgctgacaGctggttccggtcaagccaca	14	13	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr8:144895217G>A	ENST00000320476.3	-	7	631	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	SCRIB_ENST00000377533.3_Silent_p.L128L|SCRIB_ENST00000356994.2_Silent_p.L209L|MIR937_ENST00000401271.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	209	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)			AGTGCTGACAGCTGGTTCCGG	0.622																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(625-627)Ctg>Ttg		scribbled planar cell polarity protein							14	17	16					8																	144895217		2182	4290	6472	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144895217G>A	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.625C>T	8.37:g.144895217G>A						SCRIB_ENST00000320476.3_Silent_p.L209L|SCRIB_ENST00000377533.3_Silent_p.L128L	p.L209L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		7	631	-	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)		209			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.625C>T	CCDS6411.1																																																																																				0.622	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		3	22	0	0	0	1	0	3	22					A	144895217	G	A	144895217	2	1	104	1	0	0	0	0	0	0	0	1	13987	962	34	2		2	SCRIB	8	144895217	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	39455003	144895217	1468805	58	35418											
TRPM6	140803	broad.mit.edu	37	chr9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagattttatgccatgtccGcacaacctcaggaagaaagg	10	9	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:77354692G>A	ENST00000360774.1	-	34	5671	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				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						TGCCATGTCCGCACAACCTCA	0.488																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5446-5448)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 6							147	146	146					9																	77354692		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354692G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5434C>T	9.37:g.77354692G>A	ENSP00000354006:p.Arg1812Trp					TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W	p.R1816W			Q9BX84	TRPM6_HUMAN			33	5683	-			1812			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5446C>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782492	0.49891	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.96	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.422510	0.29410	N	0.012235	T	0.17831	0.0428	L	0.27053	0.805	0.27804	N	0.942373	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;0.995;0.995	D;D;D;P;B;B	0.74023	0.982;0.982;0.982;0.545;0.409;0.409	T	0.04191	-1.0970	10	0.72032	D	0.01	.	15.6115	0.76721	0.0:0.0:0.7486:0.2514	.	359;645;763;1812;1807;1807	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	W	1812;1816;767;649;1807;1807;358;1816	ENSP00000354006:R1812W;ENSP00000407341:R1816W;ENSP00000366068:R767W;ENSP00000366067:R649W;ENSP00000396672:R1807W;ENSP00000354962:R1807W;ENSP00000366060:R1816W	ENSP00000354006:R1812W	R	-	1	2	TRPM6	76544512	0.749000	0.28305	0.927000	0.36925	0.165000	0.22458	2.006000	0.40874	0.845000	0.35118	-0.953000	0.02652	CGG		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		6	712	0	0	0	1	0	6	712					A	77354692	G	A	77354692	3	1	104	1	0	0	0	0	1	0	0	0	16643	1086	38	1	658	1	TRPM6	9	77354692	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		77354692	63858739	59	35419											
TGFBR1	7046	broad.mit.edu	37	chr9	101911492	101911492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	taatggctaaaattatgagaGaatgttggtatgccaatgga	11	3	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:101911492G>A	ENST00000374994.4	+	9	1534	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	473	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|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)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATTATGAGAGAATGTTGGTA	0.348																																						ENST00000374994.4																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27						c.(1417-1419)Gaa>Aaa		transforming growth factor, beta receptor 1							71	64	66					9																	101911492		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101911492G>A		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1417G>A	9.37:g.101911492G>A	ENSP00000364133:p.Glu473Lys					TGFBR1_ENST00000552516.1_Missense_Mutation_p.E477K|TGFBR1_ENST00000374990.2_Missense_Mutation_p.E396K|TGFBR1_ENST00000550253.1_Missense_Mutation_p.E404K	p.E473K	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN			9	1534	+		Acute lymphoblastic leukemia(62;0.0559)	473			Protein kinase.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.1417G>A	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880269	0.91740	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.66	5.66	0.87406	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	0.80204	0.4580	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.986;0.997	T	0.81272	-0.1008	10	0.87932	D	0	.	18.8853	0.92375	0.0:0.0:1.0:0.0	.	396;473	P36897-3;P36897	.;TGFR1_HUMAN	K	473;435;396;477;404	ENSP00000364133:E473K;ENSP00000364129:E396K;ENSP00000447297:E477K;ENSP00000450052:E404K	ENSP00000364129:E396K	E	+	1	0	TGFBR1	100951313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	GAA		0.348	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3			10	177	0	0	0	1	0	10	177					A	101911492	G	A	101911492	3	1	104	1	0	0	0	0	1	0	0	0	15873	943	33	2	1451	2	TGFBR1	9	101911492	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	24556800	101911492	39301939	60	35420											
TTC16	158248	broad.mit.edu	37	chr9	130493021	130493021	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gactcgtcactgttgaagacGcaatcctcggactctgggaa	11	11	2	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:130493021G>A	ENST00000373289.3	+	14	2039	c.1959G>A	c.(1957-1959)acG>acA	p.T653T	TOR2A_ENST00000472723.1_5'Flank|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	653										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGTTGAAGACGCAATCCTCGG	0.567																																						ENST00000373289.3																			0				central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						c.(1957-1959)acG>acA		tetratricopeptide repeat domain 16							79	72	74					9																	130493021		2203	4300	6503	SO:0001819	synonymous_variant	158248						binding	g.chr9:130493021G>A	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.1959G>A	9.37:g.130493021G>A						TTC16_ENST00000489226.1_3'UTR	p.T653T	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN			14	2039	+			653					B4DYG4|B5ME24|Q5JU66|Q96M72	Silent	SNP	ENST00000373289.3	37	c.1959G>A	CCDS6875.1																																																																																				0.567	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		4	192	0	0	0	1	0	4	192					A	130493021	G	A	130493021	2	1	104	1	0	0	0	0	0	0	0	1	16737	1074	38	1		1	TTC16	9	130493021	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	28581529	130493021	10720410	61	35421											
FAM102A	399665	broad.mit.edu	37	chr9	130712784	130712784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggagcccgagcccGcaaactcggccaggttcaag	13	15	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr9:130712784G>A	ENST00000373095.1	-	4	707	c.332C>T	c.(331-333)gCg>gTg	p.A111V	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	111										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGAGCCCGCAAACTCGGC	0.632																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(331-333)gCg>gTg		family with sequence similarity 102, member A							103	90	94					9																	130712784		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130712784G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.332C>T	9.37:g.130712784G>A	ENSP00000362187:p.Ala111Val					FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	p.A111V	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			4	707	-			111					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.332C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943040	0.73672	.	.	ENSG00000167106	ENST00000373095	T	0.44881	0.91	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71974	-0.4430	10	0.19147	T	0.46	-8.445	17.1174	0.86692	0.0:0.0:1.0:0.0	.	111	Q5T9C2	F102A_HUMAN	V	111	ENSP00000362187:A111V	ENSP00000362187:A111V	A	-	2	0	FAM102A	129752605	1.000000	0.71417	0.187000	0.23214	0.100000	0.18952	9.758000	0.98927	2.362000	0.80069	0.462000	0.41574	GCG		0.632	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			7	315	0	0	0	1	0	7	315					A	130712784	G	A	130712784	3	1	104	1	0	0	0	0	1	0	0	0	5403	1087	38	1	854	1	FAM102A	9	130712784	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	219763	130712784	10500647	62	35422											
PBLD	64081	broad.mit.edu	37	chr10	70056061	70056061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcagaagccagggtgGcatggccacagagtgggacc	16	11	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:70056061G>A	ENST00000358769.2	-	4	447	c.245C>T	c.(244-246)gCc>gTc	p.A82V	PBLD_ENST00000432941.1_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000495025.2_Missense_Mutation_p.A82V|PBLD_ENST00000309049.4_Missense_Mutation_p.A82V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	82					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						AGCCAGGGTGGCATGGCCACA	0.423																																						ENST00000358769.2																			0				endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(244-246)gCc>gTc		phenazine biosynthesis-like protein domain containing							51	51	51					10																	70056061		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70056061G>A	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.245C>T	10.37:g.70056061G>A	ENSP00000351619:p.Ala82Val					PBLD_ENST00000309049.4_Missense_Mutation_p.A82V|PBLD_ENST00000336578.1_Missense_Mutation_p.A49V|PBLD_ENST00000277795.4_Intron|PBLD_ENST00000432941.1_Missense_Mutation_p.A82V	p.A82V	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN			4	447	-			82					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.245C>T	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517219	0.85495	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.67	4.76	0.60689	.	0.058094	0.64402	D	0.000002	T	0.74741	0.3756	H	0.96269	3.795	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83322	-0.0017	10	0.87932	D	0	-10.1697	13.9539	0.64135	0.0:0.1521:0.8479:0.0	.	82;82	C9JIM0;P30039	.;PBLD_HUMAN	V	49;82;82;82	ENSP00000338041:A49V;ENSP00000351619:A82V;ENSP00000308466:A82V;ENSP00000395534:A82V	ENSP00000308466:A82V	A	-	2	0	PBLD	69726067	1.000000	0.71417	0.923000	0.36655	0.851000	0.48451	5.741000	0.68638	1.378000	0.46305	0.561000	0.74099	GCC		0.423	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		5	200	0	0	0	1	0	5	200					A	70056061	G	A	70056061	3	1	104	1	0	0	0	0	1	0	0	0	11531	1203	42	2	738	2	PBLD	10	70056061	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		70056061	65478686	63	35423											
HK1	3098	broad.mit.edu	37	chr10	71119706	71119706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcctttcgaattctgCgggtgcaagtgaatcatgag	12	8	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:71119706C>T	ENST00000359426.6	+	3	384	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000448642.2_Missense_Mutation_p.R129W|HK1_ENST00000404387.2_Missense_Mutation_p.R98W	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	94	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TCGAATTCTGCGGGTGCAAGT	0.478																																						ENST00000448642.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(385-387)Cgg>Tgg		hexokinase 1							150	138	142					10																	71119706		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71119706C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.280C>T	10.37:g.71119706C>T	ENSP00000352398:p.Arg94Trp					HK1_ENST00000404387.2_Missense_Mutation_p.R98W|HK1_ENST00000360289.2_Missense_Mutation_p.R82W|HK1_ENST00000298649.3_Missense_Mutation_p.R93W|HK1_ENST00000359426.6_Missense_Mutation_p.R94W|HK1_ENST00000494253.1_3'UTR	p.R129W			P19367	HXK1_HUMAN			8	774	+			94			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.385C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995975	0.54147	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	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	5.51	3.59	0.41128	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	M	0.67625	2.065	0.80722	D	1	B;B;B;B;B	0.19817	0.006;0.016;0.029;0.039;0.003	B;B;B;B;B	0.15484	0.006;0.013;0.013;0.013;0.002	T	0.41088	-0.9528	10	0.25751	T	0.34	-2.9677	13.4228	0.61007	0.434:0.566:0.0:0.0	.	94;93;129;98;82	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	W	98;82;129;82;98;93;93;94;94	ENSP00000409761:R98W;ENSP00000353433:R82W;ENSP00000402103:R129W;ENSP00000398316:R82W;ENSP00000384774:R98W;ENSP00000415949:R93W;ENSP00000298649:R93W;ENSP00000352398:R94W	ENSP00000298649:R93W	R	+	1	2	HK1	70789712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.964000	0.49192	0.621000	0.30232	0.561000	0.74099	CGG		0.478	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		6	437	0	0	0	1	0	6	437					T	71119706	C	T	71119706	3	4	104	1	0	0	0	0	1	0	0	0	7220	759	27	1	468	1	HK1	10	71119706	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	1063645	71119706	64415041	64	35424											
ABCC2	1244	broad.mit.edu	37	chr10	101611304	101611304	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatagagtgcggcagcccTgaagaactgctacaaatccc	9	11	0	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:101611304T>C	ENST00000370449.4	+	32	4667	c.4554T>C	c.(4552-4554)ccT>ccC	p.P1518P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1518	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GCGGCAGCCCTGAAGAACTGC	0.448																																						ENST00000370449.4																			0				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						c.(4552-4554)ccT>ccC		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						119	119	119					10																	101611304		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101611304T>C	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.4554T>C	10.37:g.101611304T>C							p.P1518P	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	32	4667	+		Colorectal(252;0.234)	1518			ABC transporter 2.		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.4554T>C	CCDS7484.1																																																																																				0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		5	551	0	0	0	1	0	5	551					C	101611304	T	C	101611304	2	2	104	1	0	0	0	0	0	0	0	1	53	1567	55	4		4	ABCC2	10	101611304	Silent	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08	30491598	101611304	33923443	65	35425											
TMEM180	79847	broad.mit.edu	37	chr10	104235646	104235646	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagctcttcacctggTcccagttcacgctgcatggg	11	14	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:104235646T>C	ENST00000238936.4	+	10	1696	c.1459T>C	c.(1459-1461)Tcc>Ccc	p.S487P	TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	487						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)		CTTCACCTGGTCCCAGTTCAC	0.627																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(1459-1461)Tcc>Ccc		transmembrane protein 180							37	32	34					10																	104235646		2203	4300	6503	SO:0001583	missense	79847					integral to membrane		g.chr10:104235646T>C	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.1459T>C	10.37:g.104235646T>C	ENSP00000238936:p.Ser487Pro					TMEM180_ENST00000366277.2_Missense_Mutation_p.S216P	p.S487P	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	10	1696	+		Colorectal(252;0.122)	487					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	c.1459T>C	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	t	17.56	3.420014	0.62622	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.82	3.69	0.42338	.	0.102864	0.64402	N	0.000002	T	0.69967	0.3170	M	0.80028	2.48	0.51767	D	0.999933	D	0.60160	0.987	D	0.63488	0.915	T	0.67745	-0.5591	9	0.36615	T	0.2	.	6.8488	0.24003	0.134:0.0755:0.0:0.7905	.	487	Q14CX5	TM180_HUMAN	P	216;487;216	.	ENSP00000238936:S487P	S	+	1	0	TMEM180	104225636	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	6.216000	0.72212	0.820000	0.34516	0.255000	0.18592	TCC		0.627	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		4	146	0	0	0	1	0	4	146					C	104235646	T	C	104235646	3	2	104	1	0	0	0	0	1	0	0	0	16151	1667	58	4	1489	4	TMEM180	10	104235646	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08	2624342	104235646	31299101	66	35426											
EIF3A	8661	broad.mit.edu	37	chr10	120801889	120801889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcagcgcctcctcgcctcGgcccccggtcatcatccatc	7	21	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr10:120801889G>A	ENST00000369144.3	-	19	3270	c.3143C>T	c.(3142-3144)cCg>cTg	p.P1048L	EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L	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)		TCCTCGCCTCGGCCCCCGGTC	0.607																																						ENST00000369144.3																			0				endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56						c.(3142-3144)cCg>cTg		eukaryotic translation initiation factor 3, subunit A							283	221	242					10																	120801889		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801889G>A	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.3143C>T	10.37:g.120801889G>A	ENSP00000358140:p.Pro1048Leu					EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P1014L	p.P1048L	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3270	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1048			25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3143C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917505	0.33815	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.25579	1.79;1.8	5.41	0.456	0.16655	.	0.187445	0.25433	N	0.030713	T	0.22820	0.0551	M	0.76002	2.32	0.80722	D	1	P;B	0.37061	0.58;0.002	B;B	0.26202	0.067;0.001	T	0.06463	-1.0825	10	0.49607	T	0.09	-0.3992	10.0066	0.41961	0.3389:0.0:0.6611:0.0	.	1014;1048	F5H335;Q14152	.;EIF3A_HUMAN	L	1048;1014	ENSP00000358140:P1048L;ENSP00000438178:P1014L	ENSP00000358140:P1048L	P	-	2	0	EIF3A	120791879	0.989000	0.36119	0.065000	0.19835	0.956000	0.61745	1.972000	0.40540	-0.059000	0.13154	-0.126000	0.14955	CCG		0.607	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		9	759	0	0	0	1	0	9	759					A	120801889	G	A	120801889	3	1	104	1	0	0	0	0	1	0	0	0	5028	1116	39	1	1021	1	EIF3A	10	120801889	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	16566243	120801889	14732858	67	35427											
OR52B4	143496	broad.mit.edu	37	chr11	4389022	4389022	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	atattattctggcagaaagtCaatctttttaaaagaaatat	5	4	3	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:4389022C>T	ENST00000408920.2	-	1	594	c.504G>A	c.(502-504)ttG>ttA	p.L168L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	168					cognition (GO:0050890)	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(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGAAAGTCAATCTTTTTA	0.343																																						ENST00000408920.2																			0				NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31						c.(502-504)ttG>ttA		olfactory receptor, family 52, subfamily B, member 4							63	61	62					11																	4389022		1822	4078	5900	SO:0001819	synonymous_variant	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389022C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"GPCR / Class A : Olfactory receptors"	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.504G>A	11.37:g.4389022C>T							p.L168L	NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	594	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	168					A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	37	c.504G>A	CCDS41609.1																																																																																				0.343	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		11	360	0	0	0	1	0	11	360					T	4389022	C	T	4389022	2	4	104	1	0	0	0	0	0	0	0	1	11154	825	29	2		2	OR52B4	11	4389022	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		4389022	130617494	68	35428											
ABTB2	25841	broad.mit.edu	37	chr11	34226220	34226220	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtaggggctgaagtatgCggggagggagaggacaccta	19	5	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:34226220C>T	ENST00000435224.2	-	2	1325	c.901G>A	c.(901-903)Gca>Aca	p.A301T	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	301					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)				CTGAAGTATGCGGGGAGGGAG	0.637																																						ENST00000435224.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(901-903)Gca>Aca		ankyrin repeat and BTB (POZ) domain containing 2							33	36	35					11																	34226220		2202	4298	6500	SO:0001583	missense	25841						DNA binding	g.chr11:34226220C>T	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.901G>A	11.37:g.34226220C>T	ENSP00000410157:p.Ala301Thr					ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.A115T	p.A301T	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN			2	1325	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	115					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.901G>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989268	0.53934	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60040	0.22;0.22	5.1	5.1	0.69264	Histone-fold (2);	0.060615	0.64402	D	0.000004	T	0.43055	0.1230	L	0.42245	1.32	0.53005	D	0.999969	P	0.48640	0.913	B	0.33121	0.158	T	0.40942	-0.9536	10	0.21014	T	0.42	-16.1742	14.1808	0.65574	0.0:0.8504:0.1496:0.0	.	115	Q8N961	ABTB2_HUMAN	T	301;115	ENSP00000410157:A301T;ENSP00000298992:A115T	ENSP00000298992:A115T	A	-	1	0	ABTB2	34182796	1.000000	0.71417	0.253000	0.24343	0.787000	0.44495	5.696000	0.68287	2.366000	0.80165	0.455000	0.32223	GCA		0.637	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		4	144	0	0	0	1	0	4	144					T	34226220	C	T	34226220	3	4	104	1	0	0	0	0	1	0	0	0	103	768	27	1	2240	1	ABTB2	11	34226220	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	29837198	34226220	100780296	69	35429											
INTS5	80789	broad.mit.edu	37	chr11	62416219	62416221	+	In_Frame_Del	DEL	GCA	GCA	-													atgaaccagtttttgcaggtGcagcagcagcagctggatta							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:62416219_62416221delGCA	ENST00000330574.2	-	2	1383_1385	c.1331_1333delTGC	c.(1330-1335)ctgcac>cac	p.L444del	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	444					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TTTTGCAGGTGCAGCAGCAGCAG	0.621																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1330-1335)cac>c		integrator complex subunit 5																																				SO:0001651	inframe_deletion	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416219_62416221delGCA	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"KIAA1698"	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1331_1333delTGC	11.37:g.62416228_62416230delGCA	ENSP00000327889:p.Leu444del						p.LH444del	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1383_1385	-			444					Q8N6W5|Q9C0G5	In_Frame_Del	DEL	ENST00000330574.2	37	c.1331_1333delTGC	CCDS8027.1																																																																																				0.621	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		7	320						7	320	---	---	---	---	-	62416221	GCA	-	62416219	7	5	104	1	0	1	0	1	0	0	0	0	7811	1319	46	0	1730	0	INTS5	11	62416219	In_Frame_Del	DEL	GCA	TCGA-LB-A9Q5-01A-11D-A397-08	28189999	62416219	72590297	70	35430											
MTL5	9633	broad.mit.edu	37	chr11	68480836	68480836	+	Frame_Shift_Del	DEL	T	T	-													gcccaattggcccttcccaaTttttggctggaaagcttctg							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:68480836delT	ENST00000255087.5	-	8	1243	c.1060delA	c.(1060-1062)attfs	p.I354fs		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	354	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTCCCAATTTTTGGCTGG	0.473																																						ENST00000255087.5																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(1060-1062)ttfs		metallothionein-like 5, testis-specific (tesmin)							193	193	193					11																	68480836		2200	4294	6494	SO:0001589	frameshift_variant	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68480836delT	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.1060delA	11.37:g.68480836delT	ENSP00000255087:p.Ile354fs						p.I354fs	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		8	1243	-	Esophageal squamous(3;4.37e-12)		354					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Frame_Shift_Del	DEL	ENST00000255087.5	37	c.1060delA	CCDS8184.1																																																																																				0.473	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		7	1585						7	1585	---	---	---	---	-	68480836	T	-	68480836	7	5	104	1	0	1	0	1	0	0	0	0	9977	1493	52	0	478	0	MTL5	11	68480836	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08	6064617	68480836	66525680	71	35431											
DPAGT1	1798	broad.mit.edu	37	chr11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagattcagtacatcatccGcaaagcccaggaagatcatg	9	11	3	2	rs397515327		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	114					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(340-342)gCg>gTg		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)							72	65	67					11																	118971495		2200	4295	6495	SO:0001583	missense	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118971495G>A	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.341C>T	11.37:g.118971495G>A	ENSP00000386597:p.Ala114Val		OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR	p.A114V			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	5	1892	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	114					O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	c.341C>T	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692412	0.88735	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.92348	-3.02;-3.02;-3.02	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	L	0.32530	0.975	0.80722	D	1	P;B	0.41393	0.748;0.219	B;B	0.33890	0.172;0.09	D	0.88514	0.3091	10	0.54805	T	0.06	-32.643	18.1546	0.89687	0.0:0.0:1.0:0.0	.	7;114	E7EW40;Q9H3H5	.;GPT_HUMAN	V	114;114;7	ENSP00000386597:A114V;ENSP00000346142:A114V;ENSP00000404036:A7V	ENSP00000346142:A114V	A	-	2	0	DPAGT1	118476705	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	9.869000	0.99810	2.524000	0.85096	0.563000	0.77884	GCG		0.567	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		4	185	0	0	0	1	0	4	185					A	118971495	G	A	118971495	3	1	104	1	0	0	0	0	1	0	0	0	4726	1087	38	1	913	1	DPAGT1	11	118971495	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	50490659	118971495	16035021	72	35432											
ROBO4	54538	broad.mit.edu	37	chr11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagctggggtgggaggcGcctgacagctgggacctggg	21	10	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					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)			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)		GGTGGGAGGCGCCTGACAGCT	0.662																																						ENST00000306534.3																			0				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						c.(1816-1818)Cgc>Tgc		roundabout, axon guidance receptor, homolog 4 (Drosophila)							26	32	30					11																	124761327		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761327G>A	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.1816C>T	11.37:g.124761327G>A	ENSP00000304945:p.Arg606Cys					ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C|RP11-664I21.6_ENST00000524433.1_5'UTR	p.R606C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2301	-	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)	606					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1816C>T	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	8.823	0.937980	0.18206	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.64991	-0.13;0.24	6.11	1.95	0.26073	.	0.389841	0.19154	N	0.121379	T	0.52468	0.1736	M	0.65975	2.015	0.34129	D	0.665067	B;B;B	0.13145	0.007;0.001;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.52094	-0.8621	10	0.33141	T	0.24	.	4.1764	0.10353	0.2735:0.0:0.5689:0.1575	.	606;496;606	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	C	606;496;461	ENSP00000304945:R606C;ENSP00000437129:R461C	ENSP00000304945:R606C	R	-	1	0	ROBO4	124266537	0.937000	0.31787	0.452000	0.26994	0.311000	0.27955	0.378000	0.20569	0.419000	0.25927	-0.137000	0.14449	CGC		0.662	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		12	176	0	0	0	1	0	12	176					A	124761327	G	A	124761327	3	1	104	1	0	0	0	0	1	0	0	0	13566	1087	38	1	1235	1	ROBO4	11	124761327	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	5789832	124761327	10245189	73	35433											
CCND2	894	broad.mit.edu	37	chr12	4387932	4387932	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gccttcccctccaggagtggGaactggtggtgctggggaag	17	10	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:4387932G>A	ENST00000261254.3	+	3	687	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	140	Cyclin N-terminal.				cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CCAGGAGTGGGAACTGGTGGT	0.562			T	IGL@	"NHL,CLL"																																	ENST00000261254.3				Dom	yes		12	12p13	894	T	cyclin D2			L	IGL@		"NHL,CLL"		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(418-420)Gaa>Aaa		cyclin D2							86	91	89					12																	4387932		2203	4300	6503	SO:0001583	missense	894				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	g.chr12:4387932G>A	AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"G1/S-specific cyclin D2"	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.418G>A	12.37:g.4387932G>A	ENSP00000261254:p.Glu140Lys						p.E140K	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		3	687	+			140			Cyclin N-terminal.		A8K531|Q13955|Q5U035	Missense_Mutation	SNP	ENST00000261254.3	37	c.418G>A	CCDS8524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.856601|4.856601	0.91355|0.91355	.|.	.|.	ENSG00000118971|ENSG00000118971	ENST00000261254|ENST00000536537	T|.	0.45276|.	0.9|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Cyclin, N-terminal (1);Cyclin-like (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88698|0.88698	0.6507|0.6507	H|H	0.97783|0.97783	4.075|4.075	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93199|0.93199	0.6590|0.6590	10|5	0.87932|.	D|.	0|.	.|.	16.8234|16.8234	0.85924|0.85924	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	140|.	P30279|.	CCND2_HUMAN|.	K|E	140|55	ENSP00000261254:E140K|.	ENSP00000261254:E140K|.	E|G	+|+	1|2	0|0	CCND2|CCND2	4258193|4258193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	9.860000|9.860000	0.99555|0.99555	2.198000|2.198000	0.70561|0.70561	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.562	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	NM_001759		8	338	0	0	0	1	0	8	338					A	4387932	G	A	4387932	3	1	104	1	0	0	0	0	1	0	0	0	2926	1175	41	2	428	2	CCND2	12	4387932	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		4387932	129463963	74	35434											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-													ccattatttcttccataccaTtttttttcttgccgaaaaat							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138	135	136					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		9	478						9	478	---	---	---	---	-	21028267	T	-	21028267	7	5	104	1	0	1	0	1	0	0	0	0	14774	1493	52	0	852	0	SLCO1B3	12	21028267	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08	16640335	21028267	112823628	75	35435											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		16	333	0	0	0	1	0	16	333					T	25398284	C	T	25398284	3	4	104	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	4370017	25398284	108453611	76	35436											
KIF21A	55605	broad.mit.edu	37	chr12	39735383	39735383	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcctcCtcttcttcatcctcatgatc	1	20	5	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	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_ENST00000395670.3_Silent_p.E615E|KIF21A_ENST00000361961.3_Silent_p.E602E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	615					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E602D(1)|p.E602E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				cctcctcctcctcttcttcat	0.398																																						ENST00000395670.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.E602D(1)|p.E602E(1)	lung(1)|kidney(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						c.(1843-1845)gaG>gaA		kinesin family member 21A							85	82	83					12																	39735383		2203	4299	6502	SO:0001819	synonymous_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39735383C>T	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						KIF21A_ENST00000544797.2_Silent_p.E602E|KIF21A_ENST00000541463.2_Silent_p.E602E|KIF21A_ENST00000361961.3_Silent_p.E602E|KIF21A_ENST00000361418.5_Silent_p.E615E	p.E615E			Q7Z4S6	KI21A_HUMAN			14	2264	-		Lung NSC(34;0.179)|all_lung(34;0.213)	615					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Silent	SNP	ENST00000361418.5	37	c.1845G>A	CCDS53776.1																																																																																				0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		4	153	0	0	0	1	0	4	153					T	39735383	C	T	39735383	2	4	104	1	0	0	0	0	0	0	0	1	8318	680	24	2		2	KIF21A	12	39735383	Silent	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	14337099	39735383	94116512	77	35437											
ATP5B	506	broad.mit.edu	37	chr12	57037309	57037309	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaaccaccatgggctttggCgacattgttgattaactcca	9	10	0	1	rs200966693		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:57037309C>T	ENST00000262030.3	-	5	720	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	ATP5B_ENST00000550162.1_5'Flank|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	224					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)	p.A224T(1)		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						TGGGCTTTGGCGACATTGTTG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		17384	0.0		0.001	False		,,,				2504	0.0					ENST00000262030.3																			1	Substitution - Missense(1)	p.A224T(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(670-672)Gcc>Acc		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							105	97	100					12																	57037309		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037309C>T	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.670G>A	12.37:g.57037309C>T	ENSP00000262030:p.Ala224Thr					ATP5B_ENST00000552919.1_Missense_Mutation_p.A224T	p.A224T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			5	720	-			224					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.670G>A	CCDS8924.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	27.9|27.9	4.873953|4.873953	0.91664|0.91664	.|.	.|.	ENSG00000110955|ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000551020;ENST00000551570;ENST00000553007|ENST00000552959	T;T;T;T;T|.	0.79352|.	-1.26;-1.26;-1.26;-1.26;-1.26|.	5.9|5.9	5.9|5.9	0.94986|0.94986	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|.	0.099413|.	0.64402|.	D|.	0.000002|.	D|D	0.84009|0.84009	0.5378|0.5378	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.66084|.	0.941|.	D|D	0.85062|0.85062	0.0935|0.0935	10|5	0.87932|.	D|.	0|.	-3.7647|-3.7647	19.0535|19.0535	0.93054|0.93054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	224|.	P06576|.	ATPB_HUMAN|.	T|H	224;224;163;17;125|160	ENSP00000262030:A224T;ENSP00000450297:A224T;ENSP00000446677:A163T;ENSP00000448428:A17T;ENSP00000447571:A125T|.	ENSP00000262030:A224T|.	A|R	-|-	1|2	0|0	ATP5B|ATP5B	55323576|55323576	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.993000|0.993000	0.82548|0.82548	7.688000|7.688000	0.84153|0.84153	2.786000|2.786000	0.95864|0.95864	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.413	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		5	398	0	0	0	1	0	5	398					T	57037309	C	T	57037309	3	4	104	1	0	0	0	0	1	0	0	0	1149	768	27	1	943	1	ATP5B	12	57037309	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	17301926	57037309	76814586	78	35438											
E2F7	144455	broad.mit.edu	37	chr12	77449827	77449827	+	Frame_Shift_Del	DEL	T	T	-													ggatttctttctggagtaaaTtttttttgcttcgataaatc							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:77449827delT	ENST00000322886.7	-	3	412	c.177delA	c.(175-177)aaafs	p.K59fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	59					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)	p.K59fs*29(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CTGGAGTAAATTTTTTTTGCT	0.363																																						ENST00000322886.7																			2	Deletion - Frameshift(2)	p.K59fs*29(2)	large_intestine(2)	central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(175-177)aafs		E2F transcription factor 7							82	84	83					12																	77449827		2203	4300	6503	SO:0001589	frameshift_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77449827delT	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.177delA	12.37:g.77449827delT	ENSP00000323246:p.Lys59fs					E2F7_ENST00000416496.2_Frame_Shift_Del_p.K59fs	p.K59fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			3	412	-			59					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	ENST00000322886.7	37	c.177delA	CCDS9016.1																																																																																				0.363	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		9	501						9	501	---	---	---	---	-	77449827	T	-	77449827	7	5	104	1	0	1	0	1	0	0	0	0	4888	1490	52	0	2602	0	E2F7	12	77449827	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08	20412518	77449827	56402068	79	35439											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		10	910	0	0	0	1	0	10	910					A	123780522	G	A	123780522	3	1	104	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	46330695	123780522	10071373	80	35440											
ZC3H13	23091	broad.mit.edu	37	chr13	46559723	46559723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcatctcccttgagtcccGcatgtctctggagtctctta	7	14	4	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:46559723G>A	ENST00000242848.4	-	10	1777	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477W			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	477	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R477W(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTGAGTCCCGCATGTCTCTG	0.527																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Missense(1)	p.R477W(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(1429-1431)Cgg>Tgg		zinc finger CCCH-type containing 13							192	190	190					13																	46559723		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559723G>A	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.1429C>T	13.37:g.46559723G>A	ENSP00000242848:p.Arg477Trp					ZC3H13_ENST00000282007.3_Missense_Mutation_p.R477W	p.R477W			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	10	1777	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	477			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1429C>T		.	.	.	.	.	.	.	.	.	.	G	14.32	2.501462	0.44455	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.48836	1.74;0.8	5.82	5.82	0.92795	.	0.000000	0.56097	D	0.000040	T	0.61974	0.2390	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.63404	-0.6645	10	0.87932	D	0	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	477;477	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	W	477;477;293	ENSP00000242848:R477W;ENSP00000282007:R477W	ENSP00000242848:R477W	R	-	1	2	ZC3H13	45457724	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.531000	0.60602	2.752000	0.94435	0.655000	0.94253	CGG		0.527	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		5	710	0	0	0	1	0	5	710					A	46559723	G	A	46559723	3	1	104	1	0	0	0	0	1	0	0	0	17618	1086	38	1	3297	1	ZC3H13	13	46559723	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		46559723	68610155	81	35441											
ZIC2	7546	broad.mit.edu	37	chr13	100635045	100635045	+	Frame_Shift_Del	DEL	T	T	-													accaccaccaccccggtgccTttttccgctatatgcggcag							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:100635045delT	ENST00000376335.3	+	1	1020	c.727delT	c.(727-729)tttfs	p.F244fs		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	244	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				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)					ccCCGGTGCCTTTTTCCGCTA	0.562																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(727-729)ttfs		Zic family member 2							52	58	56					13																	100635045		2203	4300	6503	SO:0001589	frameshift_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635045delT	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.727delT	13.37:g.100635045delT	ENSP00000365514:p.Phe244fs						p.F244fs	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	1020	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		244			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Frame_Shift_Del	DEL	ENST00000376335.3	37	c.727delT	CCDS9495.1																																																																																				0.562	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		7	391						7	391	---	---	---	---	-	100635045	T	-	100635045	7	5	104	1	0	1	0	1	0	0	0	0	17732	1609	56	0	729	0	ZIC2	13	100635045	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08	54075322	100635045	14534833	82	35442											
UPF3A	65110	broad.mit.edu	37	chr13	115070324	115070324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgagcgcgagagtgtggcGgaaacaggaggatctgcaag	17	8	1	1	rs200586196		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr13:115070324G>A	ENST00000375299.3	+	10	1419	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Missense_Mutation_p.G422R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	455					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)		AGAGTGTGGCGGAAACAGGAG	0.592																																						ENST00000375299.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1363-1365)Gga>Aga		UPF3 regulator of nonsense transcripts homolog A (yeast)							56	57	56					13																	115070324		2203	4300	6503	SO:0001583	missense	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115070324G>A	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.1363G>A	13.37:g.115070324G>A	ENSP00000364448:p.Gly455Arg					UPF3A_ENST00000351487.5_Missense_Mutation_p.G422R|UPF3A_ENST00000475218.2_3'UTR	p.G455R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	10	1419	+	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)	455					A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Missense_Mutation	SNP	ENST00000375299.3	37	c.1363G>A	CCDS9543.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599164	0.46318	.	.	ENSG00000169062	ENST00000375299;ENST00000351487;ENST00000543577	T;T	0.29142	1.58;1.58	3.47	1.62	0.23740	.	2.085870	0.03163	N	0.169610	T	0.44244	0.1284	L	0.50333	1.59	0.09310	N	1	B;D	0.71674	0.013;0.998	B;P	0.57371	0.007;0.819	T	0.14008	-1.0488	9	.	.	.	.	6.8385	0.23949	0.0989:0.1768:0.7243:0.0	.	422;455	Q9H1J1-2;Q9H1J1	.;REN3A_HUMAN	R	455;422;187	ENSP00000364448:G455R;ENSP00000329592:G422R	.	G	+	1	0	UPF3A	114088426	0.012000	0.17670	0.001000	0.08648	0.006000	0.05464	1.080000	0.30779	0.239000	0.21243	0.563000	0.77884	GGA		0.592	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			4	284	0	0	0	1	0	4	284					A	115070324	G	A	115070324	3	1	104	1	0	0	0	0	1	0	0	0	17059	1117	39	1	1401	1	UPF3A	13	115070324	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	14435279	115070324	99554	83	35443											
SMEK1	55671	broad.mit.edu	37	chr14	91931722	91931722	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tatgtagcggttgtaaaactCatcttttaatccaataatct	5	7	3	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:91931722C>T	ENST00000554943.1	-	11	1817	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E555K			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	568					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTAAAACTCATCTTTTAAT	0.358																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1663-1665)Gag>Aag		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							99	98	98					14																	91931722		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91931722C>T	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1702G>A	14.37:g.91931722C>T	ENSP00000450883:p.Glu568Lys					SMEK1_ENST00000337238.4_Missense_Mutation_p.E555K|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000428424.2_Missense_Mutation_p.E329K|SMEK1_ENST00000555462.1_Missense_Mutation_p.E329K|SMEK1_ENST00000554943.1_Missense_Mutation_p.E568K	p.E555K			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	11	2159	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	568					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1663G>A		.	.	.	.	.	.	.	.	.	.	C	17.96	3.516739	0.64634	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;D;T;D;T	0.95001	1.58;1.58;-3.58;1.58;-3.58;1.58	6.15	6.15	0.99193	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96830	0.8965	M	0.63208	1.945	0.80722	D	1	D;D;D	0.63880	0.974;0.993;0.99	D;P;P	0.70487	0.969;0.901;0.907	D	0.95808	0.8839	10	0.48119	T	0.1	-15.5476	20.8387	0.99724	0.0:1.0:0.0:0.0	.	329;568;555	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	K	555;555;329;568;329;555	ENSP00000450864:E555K;ENSP00000337125:E555K;ENSP00000392704:E329K;ENSP00000450883:E568K;ENSP00000450891:E329K;ENSP00000452596:E555K	ENSP00000337125:E555K	E	-	1	0	SMEK1	91001475	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.811000	0.86092	2.932000	0.99384	0.643000	0.83706	GAG		0.358	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		10	292	0	0	0	1	0	10	292					T	91931722	C	T	91931722	3	4	104	1	0	0	0	0	1	0	0	0	14843	835	29	2	819	2	SMEK1	14	91931722	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		91931722	15417818	84	35444											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	15	9	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122	132	129					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		9	930	0	0	0	1	0	9	930					A	103174893	G	A	103174893	3	1	104	1	0	0	0	0	1	0	0	0	13232	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	11243171	103174893	4174647	85	35445											
CDC42BPB	9578	broad.mit.edu	37	chr14	103434632	103434632	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgttttcatcaaacagCatcgctctttctcgttcgta	5	11	5	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr14:103434632C>A	ENST00000361246.2	-	16	2592	c.2304G>T	c.(2302-2304)atG>atT	p.M768I		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)		CATCAAACAGCATCGCTCTTT	0.368																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(2302-2304)atG>atT		CDC42 binding protein kinase beta (DMPK-like)							203	186	192					14																	103434632		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103434632C>A	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.2304G>T	14.37:g.103434632C>A	ENSP00000355237:p.Met768Ile						p.M768I	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	16	2592	-		Melanoma(154;0.155)	768						Missense_Mutation	SNP	ENST00000361246.2	37	c.2304G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	0.788	-0.759973	0.03019	.	.	ENSG00000198752	ENST00000361246	T	0.63580	-0.05	4.47	2.64	0.31445	.	0.272643	0.42682	N	0.000661	T	0.39545	0.1082	N	0.17082	0.46	0.39110	D	0.961469	B	0.02656	0.0	B	0.01281	0.0	T	0.12041	-1.0563	10	0.23891	T	0.37	.	6.6845	0.23138	0.0:0.706:0.1457:0.1483	.	768	Q9Y5S2	MRCKB_HUMAN	I	768	ENSP00000355237:M768I	ENSP00000355237:M768I	M	-	3	0	CDC42BPB	102504385	1.000000	0.71417	0.251000	0.24312	0.079000	0.17450	0.811000	0.27198	0.461000	0.27071	0.561000	0.74099	ATG		0.368	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		7	411	1	0	2.0095e-06	1	2.04741e-06	7	411					A	103434632	C	A	103434632	3	1	104	1	0	0	0	0	1	0	0	0	3082	710	25	3	2919	3	CDC42BPB	14	103434632	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	259739	103434632	3914908	86	35446											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		10	633						10	633	---	---	---	---	-	31196894	A	-	31196894	7	5	104	1	0	1	0	1	0	0	0	0	9984	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-LB-A9Q5-01A-11D-A397-08		31196894	71334498	87	35447											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									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						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				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						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	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.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		8	464						8	464	---	---	---	---	-	59144134	GCT	-	59144132	7	5	104	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-LB-A9Q5-01A-11D-A397-08	27947238	59144132	43387260	88	35448											
NOX5	79400	broad.mit.edu	37	chr15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-													cctccccgacaggtgtcgctCtgctgctgctgctcctcctc					rs370141395		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		8	804						8	804	---	---	---	---	-	69328210	CTG	-	69328208	7	5	104	1	0	1	0	1	0	0	0	0	10601	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-LB-A9Q5-01A-11D-A397-08	10184076	69328208	33203184	89	35449											
CHRNB4	1143	broad.mit.edu	37	chr15	78922232	78922232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcagccacaggacgctgcCgttggaccggactatcaagt	14	12	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:78922232C>T	ENST00000261751.3	-	5	526	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	139					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)	p.G139C(1)|p.G139S(1)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	AGGACGCTGCCGTTGGACCGG	0.572																																						ENST00000261751.3																			2	Substitution - Missense(2)	p.G139C(1)|p.G139S(1)	lung(2)	endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(415-417)Ggc>Agc		cholinergic receptor, nicotinic, beta 4 (neuronal)							41	44	43					15																	78922232		2196	4292	6488	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922232C>T	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.415G>A	15.37:g.78922232C>T	ENSP00000261751:p.Gly139Ser					CHRNB4_ENST00000412074.2_Intron	p.G139S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			5	526	-			139					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.415G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783372	0.70222	.	.	ENSG00000117971	ENST00000261751	D	0.97352	-4.35	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99636	1.0987	10	0.72032	D	0.01	.	18.2167	0.89887	0.0:1.0:0.0:0.0	.	139	P30926	ACHB4_HUMAN	S	139	ENSP00000261751:G139S	ENSP00000261751:G139S	G	-	1	0	CHRNB4	76709287	1.000000	0.71417	0.956000	0.39512	0.065000	0.16274	7.766000	0.85320	2.301000	0.77427	0.655000	0.94253	GGC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			6	192	0	0	0	1	0	6	192					T	78922232	C	T	78922232	3	4	104	1	0	0	0	0	1	0	0	0	3402	652	23	1	1089	1	CHRNB4	15	78922232	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	9594024	78922232	23609160	90	35450											
DET1	55070	broad.mit.edu	37	chr15	89074164	89074164	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatcctcatagcaaaagCggccaatggtccgcacatca	9	13	3	0	rs138430376		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr15:89074164C>T	ENST00000268148.8	-	2	918	c.773G>A	c.(772-774)cGc>cAc	p.R258H	DET1_ENST00000558413.1_3'UTR|DET1_ENST00000564406.1_Missense_Mutation_p.R269H|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.R269H	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	258						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ATAGCAAAAGCGGCCAATGGT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		21511	0.001		0.0	False		,,,				2504	0.0					ENST00000564406.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(805-807)cGc>cAc		de-etiolated homolog 1 (Arabidopsis)							60	60	60					15																	89074164		2035	4186	6221	SO:0001583	missense	55070					nucleus		g.chr15:89074164C>T	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.773G>A	15.37:g.89074164C>T	ENSP00000268148:p.Arg258His					DET1_ENST00000444300.1_Missense_Mutation_p.R269H|DET1_ENST00000558413.1_3'UTR|DET1_ENST00000268148.8_Missense_Mutation_p.R258H	p.R269H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	966	-	Lung NSC(78;0.105)|all_lung(78;0.182)		258					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.806G>A	CCDS45344.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.0	4.364477	0.82463	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80455	-0.1375	9	0.49607	T	0.09	-36.1175	14.418	0.67163	0.0:0.9302:0.0:0.0698	.	258;269	Q7L5Y6;B3KNN6	DET1_HUMAN;.	H	269;258	.	ENSP00000268148:R258H	R	-	2	0	DET1	86875168	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.213000	0.77950	1.620000	0.50308	0.655000	0.94253	CGC		0.507	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996		29	249	0	0	0	1	0	29	249					T	89074164	C	T	89074164	3	4	104	1	0	0	0	0	1	0	0	0	4466	768	27	1	895	1	DET1	15	89074164	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	10151932	89074164	13457228	91	35451											
PKD1	5310	broad.mit.edu	37	chr16	2160250	2160250	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggaagtagcggccacCgcccaccacctgcagcccct	13	17	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	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																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4918-4920)Ggt>Agt		polycystic kidney disease 1 (autosomal dominant)							20	20	20					16																	2160250		2171	4272	6443	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160250C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4918G>A	16.37:g.2160250C>T	ENSP00000262304:p.Gly1640Ser					PKD1_ENST00000423118.1_Missense_Mutation_p.G1640S	p.G1640S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5126	-			1640			PKD 12.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4918G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	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		0.617	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			21	174	0	0	0	1	0	21	174					T	2160250	C	T	2160250	3	4	104	1	0	0	0	0	1	0	0	0	12005	652	23	1	8121	1	PKD1	16	2160250	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		2160250	88194503	92	35452											
C16orf62	57020	broad.mit.edu	37	chr16	19680556	19680556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaatattgatgggaagatgCggccatcggaatcgttcctt	11	7	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:19680556C>T	ENST00000251143.5	+	27	2308	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000438132.3_Missense_Mutation_p.R855W			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	766						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						TGGGAAGATGCGGCCATCGGA	0.418																																						ENST00000438132.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(2563-2565)Cgg>Tgg		chromosome 16 open reading frame 62							121	120	120					16																	19680556		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19680556C>T		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.2296C>T	16.37:g.19680556C>T	ENSP00000251143:p.Arg766Trp					C16orf62_ENST00000542263.1_Missense_Mutation_p.R762W|C16orf62_ENST00000448695.1_Missense_Mutation_p.R616W|C16orf62_ENST00000417362.2_Missense_Mutation_p.R673W|C16orf62_ENST00000543152.1_Missense_Mutation_p.R515W|C16orf62_ENST00000251143.5_Missense_Mutation_p.R766W	p.R855W	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN			27	2611	+			766					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.2563C>T		.	.	.	.	.	.	.	.	.	.	C	20.5	3.995543	0.74703	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.51	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.65113	-0.6247	9	.	.	.	-17.7679	15.8043	0.78481	0.1365:0.8635:0.0:0.0	.	762;766	F5H7K1;Q7Z3J2	.;CP062_HUMAN	W	855;762;766;673;616	ENSP00000400815:R855W;ENSP00000442468:R762W;ENSP00000251143:R766W;ENSP00000395973:R673W;ENSP00000398009:R616W	.	R	+	1	2	C16orf62	19588057	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	4.337000	0.59310	2.604000	0.88044	0.644000	0.83932	CGG		0.418	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		5	297	0	0	0	1	0	5	297					T	19680556	C	T	19680556	3	4	104	1	0	0	0	0	1	0	0	0	1830	759	27	1	2402	1	C16orf62	16	19680556	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	17520306	19680556	70674197	93	35453											
BCL7C	9274	broad.mit.edu	37	chr16	30899223	30899223	+	Frame_Shift_Del	DEL	G	G	-													ttgggcagatgcgcttgagtGggggggcaccctccgagtcc					rs150838242		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:30899223delG	ENST00000215115.4	-	6	1632	c.617delC	c.(616-618)ccafs	p.P206fs	MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000570025.1_RNA|AC106782.20_ENST00000572471.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	206	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			GCGCTTGAGTGGGGGGGCACC	0.622																																						ENST00000215115.4																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)	6						c.(616-618)cafs		B-cell CLL/lymphoma 7C							76	92	87					16																	30899223		2197	4300	6497	SO:0001589	frameshift_variant	9274				apoptosis			g.chr16:30899223delG	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.617delC	16.37:g.30899223delG	ENSP00000215115:p.Pro206fs					AC106782.20_ENST00000572471.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000565573.1_RNA|MIR4519_ENST00000570025.1_RNA	p.P206fs	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	Colorectal(24;0.198)		6	1632	-			206			Pro-rich.		O43770|Q6PD89	Frame_Shift_Del	DEL	ENST00000215115.4	37	c.617delC	CCDS10693.1																																																																																				0.622	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765		9	774						9	774	---	---	---	---	-	30899223	G	-	30899223	7	5	104	1	0	1	0	1	0	0	0	0	1381	1348	47	0	40	0	BCL7C	16	30899223	Frame_Shift_Del	DEL	G	TCGA-LB-A9Q5-01A-11D-A397-08	11218667	30899223	59455530	94	35454											
SHCBP1	79801	broad.mit.edu	37	chr16	46615801	46615801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttctgtgtggaggcaGcaattagttcatttacaatt	10	7	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:46615801G>A	ENST00000303383.3	-	13	2125	c.1859C>T	c.(1858-1860)gCt>gTt	p.A620V		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	620					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)				TGTGGAGGCAGCAATTAGTTC	0.438																																						ENST00000303383.3																			0				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						c.(1858-1860)gCt>gTt		SHC SH2-domain binding protein 1							155	135	142					16																	46615801		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46615801G>A	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.1859C>T	16.37:g.46615801G>A	ENSP00000306473:p.Ala620Val						p.A620V	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			13	2125	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	620					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.1859C>T	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.573027	0.45798	.	.	ENSG00000171241	ENST00000303383	T	0.32515	1.45	4.06	2.08	0.27032	.	0.221701	0.45867	N	0.000329	T	0.21468	0.0517	L	0.34521	1.04	0.51767	D	0.999938	B	0.13145	0.007	B	0.12156	0.007	T	0.05616	-1.0874	10	0.72032	D	0.01	-3.4401	8.1001	0.30852	0.2676:0.0:0.7324:0.0	.	620	Q8NEM2	SHCBP_HUMAN	V	620	ENSP00000306473:A620V	ENSP00000306473:A620V	A	-	2	0	SHCBP1	45173302	1.000000	0.71417	0.995000	0.50966	0.829000	0.46940	2.791000	0.47829	0.362000	0.24319	0.563000	0.77884	GCT		0.438	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		5	407	0	0	0	1	0	5	407					A	46615801	G	A	46615801	3	1	104	1	0	0	0	0	1	0	0	0	14324	971	34	2	163	2	SHCBP1	16	46615801	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	15716578	46615801	43738952	95	35455											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	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.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	321						9	321	---	---	---	---	-	67913769	CAG	-	67913767	7	5	104	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-LB-A9Q5-01A-11D-A397-08	21297966	67913767	22440986	96	35456											
MLKL	197259	broad.mit.edu	37	chr16	74729301	74729301	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgaaacaggcatgcgttgctCaacctgaagtaacagcgaga	11	9	1	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:74729301C>G	ENST00000308807.7	-	2	818	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q	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						ATGCGTTGCTCAACCTGAAGT	0.517																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(355-357)Gag>Cag		mixed lineage kinase domain-like							183	156	165					16																	74729301		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74729301C>G	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.355G>C	16.37:g.74729301C>G	ENSP00000308351:p.Glu119Gln					MLKL_ENST00000306247.7_Missense_Mutation_p.E119Q	p.E119Q	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			2	818	-			119						Missense_Mutation	SNP	ENST00000308807.7	37	c.355G>C	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426535	0.25726	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.80214	-1.35;2.34	4.28	-8.57	0.00900	.	0.814893	0.10962	N	0.614861	T	0.57198	0.2037	N	0.24115	0.695	0.09310	N	1	P;P	0.42078	0.77;0.702	B;B	0.38712	0.28;0.217	T	0.54794	-0.8240	10	0.33940	T	0.23	1.4392	4.0588	0.09829	0.4262:0.1834:0.3155:0.075	.	119;119	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	Q	119	ENSP00000308351:E119Q;ENSP00000303118:E119Q	ENSP00000303118:E119Q	E	-	1	0	MLKL	73286802	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	-0.375000	0.07475	-1.935000	0.01049	-1.051000	0.02340	GAG		0.517	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		18	485	0	0	0	1	0	18	485					G	74729301	C	G	74729301	3	3	104	1	0	0	0	0	1	0	0	0	9660	835	29	5	1131	5	MLKL	16	74729301	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	6815534	74729301	15625452	97	35457											
TUBB3	10381	broad.mit.edu	37	chr16	90001818	90001818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccaccgtgttccggggccGcatgtccatgaaggaggtgg	17	11	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr16:90001818G>A	ENST00000315491.7	+	4	1082	c.959G>A	c.(958-960)cGc>cAc	p.R320H	TUBB3_ENST00000304984.5_Missense_Mutation_p.R248H|TUBB3_ENST00000556922.1_Missense_Mutation_p.R667H|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.R248H	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	320					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|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)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		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)	Ixabepilone(DB04845)	TTCCGGGGCCGCATGTCCATG	0.632																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(742-744)cGc>cAc		tubulin, beta 3 class III							122	111	114					16																	90001818		2198	4300	6498	SO:0001583	missense	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001818G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.959G>A	16.37:g.90001818G>A	ENSP00000320295:p.Arg320His					TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R667H|TUBB3_ENST00000554444.1_Missense_Mutation_p.R248H|TUBB3_ENST00000315491.7_Missense_Mutation_p.R320H	p.R248H			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	3038	+		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)	320					A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	ENST00000315491.7	37	c.743G>A	CCDS10988.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757979	0.49468	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	4.6	4.6	0.57074	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000023	D	0.86377	0.5918	M	0.72624	2.21	0.51482	D	0.999926	B;P	0.42941	0.217;0.794	B;B	0.43867	0.434;0.434	D	0.86789	0.1984	9	.	.	.	.	17.3629	0.87356	0.0:0.0:1.0:0.0	.	320;320	Q13509;B2RBD5	TBB3_HUMAN;.	H	667;320;248;248;320	ENSP00000451560:R667H;ENSP00000302777:R248H;ENSP00000451617:R248H;ENSP00000320295:R320H	.	R	+	2	0	RP11-566K11.2;TUBB3	88529319	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	6.457000	0.73505	2.278000	0.76064	0.511000	0.50034	CGC		0.632	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		6	630	0	0	0	1	0	6	630					A	90001818	G	A	90001818	3	1	104	1	0	0	0	0	1	0	0	0	16811	1087	38	1	973	1	TUBB3	16	90001818	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	15272517	90001818	352935	98	35458											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	8	12	2	0	rs397516436		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	171	0	0	0	1	0	10	171					A	7578212	G	A	7578212	4	1	104	1	0	0	0	0	0	1	0	0	16434	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		7578212	73616998	99	35459											
CCDC55	84081	broad.mit.edu	37	chr17	28511942	28511942	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacgaaaggatcacgaacGtcgagaggacatgagaaaag	12	8	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:28511942G>A	ENST00000247026.5	+	7	990	c.927G>A	c.(925-927)acG>acA	p.T309T	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	309	His-rich.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						GATCACGAACGTCGAGAGGAC	0.493																																						ENST00000247026.5																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(925-927)acG>acA		nuclear speckle splicing regulatory protein 1							76	70	72					17																	28511942		2203	4300	6503	SO:0001819	synonymous_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28511942G>A	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.927G>A	17.37:g.28511942G>A						NSRP1_ENST00000540900.3_3'UTR	p.T309T	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN			7	990	+			309			His-rich.		Q6FI71	Silent	SNP	ENST00000247026.5	37	c.927G>A	CCDS11255.1																																																																																				0.493	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	NM_032141		12	205	0	0	0	1	0	12	205					A	28511942	G	A	28511942	2	1	104	1	0	0	0	0	0	0	0	1	2832	1132	40	1		1	CCDC55	17	28511942	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	20933730	28511942	52683268	100	35460											
KRT24	192666	broad.mit.edu	37	chr17	38859689	38859689	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agctagaacccccaccaaatCctgtcccagagcctgaagct	7	16	0	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:38859689C>A	ENST00000264651.2	-	1	313	c.257G>T	c.(256-258)gGa>gTa	p.G86V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	86	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCCACCAAATCCTGTCCCAGA	0.582																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(256-258)gGa>gTa		keratin 24							73	93	86					17																	38859689		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859689C>A		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.257G>T	17.37:g.38859689C>A	ENSP00000264651:p.Gly86Val						p.G86V	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	313	-		Breast(137;0.00526)	86			Gly-rich.|Head.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.257G>T	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600770	0.46423	.	.	ENSG00000167916	ENST00000264651	D	0.90385	-2.66	5.32	4.35	0.52113	.	.	.	.	.	D	0.92322	0.7564	L	0.57536	1.79	0.53005	D	0.999968	D	0.69078	0.997	D	0.63597	0.916	D	0.89764	0.3949	9	0.13853	T	0.58	.	13.4064	0.60915	0.0:0.9241:0.0:0.0759	.	86	Q2M2I5	K1C24_HUMAN	V	86	ENSP00000264651:G86V	ENSP00000264651:G86V	G	-	2	0	KRT24	36113215	0.014000	0.17966	0.115000	0.21578	0.002000	0.02628	1.059000	0.30517	1.381000	0.46364	-0.258000	0.10820	GGA		0.582	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		17	511	1	0	1.56452e-12	1	1.6247e-12	17	511					A	38859689	C	A	38859689	3	1	104	1	0	0	0	0	1	0	0	0	8491	855	30	3	1352	3	KRT24	17	38859689	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	10347747	38859689	42335521	101	35461											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917415	48917415	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcgggagaatgtggtcatgCggcccaaccatgtgcgtggc	15	10	1	1	rs200820844		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:48917415C>T	ENST00000311378.4	+	2	1294	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	256	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)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TGTGGTCATGCGGCCCAACCA	0.602																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(766-768)Cgg>Tgg		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2			TRP/ARG	0,4406		0,0,2203	117	106	110		766	-7	0.9	17		110	1,8599		0,1,4299	no	missense	WFIKKN2	NM_175575.5	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	256/577	48917415	1,13005	2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917415C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.766C>T	17.37:g.48917415C>T	ENSP00000311184:p.Arg256Trp					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R163W	p.R256W	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1294	+			256			Ig-like C2-type.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.766C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350274	0.41599	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.96041	-3.89;-3.89	5.44	-7.01	0.01594	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.296278	0.33772	N	0.004575	D	0.90542	0.7036	M	0.72479	2.2	0.41747	D	0.989648	B	0.21147	0.052	B	0.14578	0.011	T	0.69250	-0.5194	10	0.59425	D	0.04	.	3.756	0.08585	0.5443:0.1895:0.0762:0.19	.	256	Q8TEU8	WFKN2_HUMAN	W	163;256	ENSP00000405889:R163W;ENSP00000311184:R256W	ENSP00000311184:R256W	R	+	1	2	WFIKKN2	46272414	0.810000	0.29049	0.874000	0.34290	0.986000	0.74619	0.008000	0.13197	-1.163000	0.02793	-0.142000	0.14014	CGG		0.602	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		5	283	0	0	0	1	0	5	283					T	48917415	C	T	48917415	3	4	104	1	0	0	0	0	1	0	0	0	17413	759	27	1	772	1	WFIKKN2	17	48917415	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	10057726	48917415	32277795	102	35462											
FASN	2194	broad.mit.edu	37	chr17	80046303	80046303	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgagggggaacctgaaccGttggggaagtcctcggcggc	18	10	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr17:80046303G>A	ENST00000306749.2	-	16	2774	c.2556C>T	c.(2554-2556)aaC>aaT	p.N852N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	852					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)	AACCTGAACCGTTGGGGAAGT	0.667																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(2554-2556)aaC>aaT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						28	36	34					17																	80046303		2196	4292	6488	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80046303G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2556C>T	17.37:g.80046303G>A							p.N852N	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		16	2774	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		852					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.2556C>T	CCDS11801.1																																																																																				0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		5	142	0	0	0	1	0	5	142					A	80046303	G	A	80046303	2	1	104	1	0	0	0	0	0	0	0	1	5708	1136	40	1		1	FASN	17	80046303	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	31128888	80046303	1148907	103	35463											
THOC1	9984	broad.mit.edu	37	chr18	264052	264052	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttactcccccaatagcaagaGaaataatagctaaaacgttt	5	9	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:264052G>A	ENST00000261600.6	-	4	237	c.230C>T	c.(229-231)tCt>tTt	p.S77F	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	77					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AATAGCAAGAGAAATAATAGC	0.343																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(229-231)tCt>tTt		THO complex 1							89	76	80					18																	264052		1841	4085	5926	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:264052G>A	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"THO complex subunits"	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.230C>T	18.37:g.264052G>A	ENSP00000261600:p.Ser77Phe					THOC1_ENST00000582313.1_5'UTR	p.S77F	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			4	237	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	77					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.230C>T	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671815	0.29693	.	.	ENSG00000079134	ENST00000261600	.	.	.	6.17	6.17	0.99709	.	0.057850	0.64402	D	0.000001	T	0.65281	0.2676	L	0.58810	1.83	0.50313	D	0.999862	B;P	0.34864	0.418;0.473	B;B	0.36666	0.147;0.23	T	0.65894	-0.6057	9	0.87932	D	0	-13.7479	20.4898	0.99202	0.0:0.0:1.0:0.0	.	77;77	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	F	77	.	ENSP00000261600:S77F	S	-	2	0	THOC1	254052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.323000	0.65858	2.941000	0.99782	0.655000	0.94253	TCT		0.343	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		4	101	0	0	0	1	0	4	101					A	264052	G	A	264052	3	1	104	1	0	0	0	0	1	0	0	0	15916	942	33	2	1815	2	THOC1	18	264052	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08		264052	77813196	104	35464											
SMAD4	4089	broad.mit.edu	37	chr18	48593400	48593400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcctaaggttgcacatagGcaaaggtgtgcagttggaat	12	7	0	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr18:48593400G>A	ENST00000342988.3	+	10	1689	c.1151G>A	c.(1150-1152)gGc>gAc	p.G384D	SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D|SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	384	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)		TTGCACATAGGCAAAGGTGTG	0.348																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(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						c.(1150-1152)gGc>gAc		SMAD family member 4							189	158	168					18																	48593400		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48593400G>A	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.1151G>A	18.37:g.48593400G>A	ENSP00000341551:p.Gly384Asp					SMAD4_ENST00000398417.2_Missense_Mutation_p.G384D|SMAD4_ENST00000588745.1_Missense_Mutation_p.G288D	p.G384D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	10	1689	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	384			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1151G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969730	0.92855	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98849	-5.18;-5.18	5.5	5.5	0.81552	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.046327	0.85682	D	0.000000	D	0.99384	0.9783	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98789	1.0735	10	0.87932	D	0	.	18.1843	0.89788	0.0:0.0:1.0:0.0	.	384	Q13485	SMAD4_HUMAN	D	384	ENSP00000341551:G384D;ENSP00000381452:G384D	ENSP00000341551:G384D	G	+	2	0	SMAD4	46847398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.581000	0.87130	0.563000	0.77884	GGC		0.348	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		22	353	0	0	0	1	0	22	353					A	48593400	G	A	48593400	3	1	104	1	0	0	0	0	1	0	0	0	14810	1203	42	2	1185	2	SMAD4	18	48593400	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	48329348	48593400	29483848	105	35465											
ABCA7	10347	broad.mit.edu	37	chr19	1046233	1046233	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catgcccctctcgcaggtttTgggaccctggcccagccgcg	12	17	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:1046233T>G	ENST00000263094.6	+	13	1681	c.1450T>G	c.(1450-1452)Tgg>Ggg	p.W484G	ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	484					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCAGGTTTTGGGACCCTGG	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1450-1452)Tgg>Ggg		ATP-binding cassette, sub-family A (ABC1), member 7							66	73	71					19																	1046233		2203	4297	6500	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1046233T>G	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1450T>G	19.37:g.1046233T>G	ENSP00000263094:p.Trp484Gly					ABCA7_ENST00000433129.1_Missense_Mutation_p.W484G|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.W346G	p.W484G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1681	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	484					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1450T>G	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	t	17.54	3.414745	0.62511	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.94828	-3.53;-3.53	4.95	4.95	0.65309	.	.	.	.	.	D	0.96787	0.8951	M	0.79123	2.44	0.46356	D	0.999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.97146	0.9828	9	0.72032	D	0.01	.	12.5427	0.56182	0.0:0.0:0.0:1.0	.	346;484	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	G	484	ENSP00000263094:W484G;ENSP00000414062:W484G	ENSP00000263094:W484G	W	+	1	0	ABCA7	997233	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.869000	0.87170	1.858000	0.53909	0.454000	0.30748	TGG		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		5	701	0	0	0	1	0	5	701					G	1046233	T	G	1046233	3	3	104	1	0	0	0	0	1	0	0	0	37	1812	63	4	1496	4	ABCA7	19	1046233	Missense_Mutation	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08		1046233	58082750	106	35466											
TICAM1	148022	broad.mit.edu	37	chr19	4816396	4816396	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagggggtgcgggtgaggccGtagggaaggctggggactgc	24	6	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:4816396G>A	ENST00000248244.5	-	2	2223	c.1994C>T	c.(1993-1995)aCg>aTg	p.T665M		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	665	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGTGAGGCCGTAGGGAAGGC	0.662																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1993-1995)aCg>aTg		toll-like receptor adaptor molecule 1							51	45	47					19																	4816396		2203	4300	6503	SO:0001583	missense	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4816396G>A	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1994C>T	19.37:g.4816396G>A	ENSP00000248244:p.Thr665Met						p.T665M	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	2223	-			665			Pro-rich.|Sufficient to induce apoptosis.		B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	c.1994C>T	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273697	0.40194	.	.	ENSG00000127666	ENST00000248244	T	0.44881	0.91	4.68	-0.218	0.13142	.	.	.	.	.	T	0.22742	0.0549	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.18561	0.022	T	0.20907	-1.0261	9	0.66056	D	0.02	-3.7983	5.0671	0.14587	0.1798:0.0:0.4884:0.3319	.	665	Q8IUC6	TCAM1_HUMAN	M	665	ENSP00000248244:T665M	ENSP00000248244:T665M	T	-	2	0	TICAM1	4767396	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.115000	0.03289	0.056000	0.16144	-0.258000	0.10820	ACG		0.662	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		5	205	0	0	0	1	0	5	205					A	4816396	G	A	4816396	3	1	104	1	0	0	0	0	1	0	0	0	15944	1145	40	1	148	1	TICAM1	19	4816396	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	3770163	4816396	54312587	107	35467											
ARHGEF18	23370	broad.mit.edu	37	chr19	7523499	7523499	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctccttgcaagggccGgagatgtatgaaatctacac	11	11	1	2	rs368721501		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:7523499G>A	ENST00000359920.6	+	9	1972	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	ARHGEF18_ENST00000319670.9_Silent_p.P415P|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R531Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	573	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)				TGCAAGGGCCGGAGATGTATG	0.562																																						ENST00000593531.1																			0											c.(1591-1593)cGg>cAg				G	,	1,4405	2.1+/-5.4	0,1,2202	104	91	96		1719,1245	-10	0.1	19		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGEF18	NM_001130955.1,NM_015318.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	573/1174,415/1016	7523499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:7523499G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1719G>A	19.37:g.7523499G>A						ARHGEF18_ENST00000319670.9_Silent_p.P415P|ARHGEF18_ENST00000359920.6_Silent_p.P573P	p.R531Q							12	1592	+								A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1592G>A	CCDS45946.1																																																																																				0.562	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		4	258	0	0	0	1	0	4	258					A	7523499	G	A	7523499	2	1	104	1	0	0	0	0	0	0	0	1	901	1103	39	1		1	ARHGEF18	19	7523499	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	2707103	7523499	51605484	108	35468											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		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.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	963	0	0	0	1	0	6	963					C	12155673	A	C	12155673	3	2	104	1	0	0	0	0	1	0	0	0	18249	40	2	4	1056	4	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-LB-A9Q5-01A-11D-A397-08	4632174	12155673	46973310	109	35469											
CPAMD8	27151	broad.mit.edu	37	chr19	17038840	17038840	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgatggaggcggtggctcGctcagacccagggatggcgc	18	10	1	2			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:17038840G>A	ENST00000443236.1	-	25	3521	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						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						GCGGTGGCTCGCTCAGACCCA	0.617																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(3490-3492)Cga>Tga		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							42	51	48					19																	17038840		2036	4175	6211	SO:0001587	stop_gained	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17038840G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3490C>T	19.37:g.17038840G>A	ENSP00000402505:p.Arg1164*						p.R1164*	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			25	3521	-			1117					Q8NC09|Q9ULD7	Nonsense_Mutation	SNP	ENST00000443236.1	37	c.3490C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	38	6.940580	0.97952	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.02	1.9	0.25705	.	0.311950	0.27861	U	0.017554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8107	0.29230	0.0:0.0:0.3646:0.6354	.	.	.	.	X	1164	.	ENSP00000291440:R1164X	R	-	1	2	CPAMD8	16899840	1.000000	0.71417	0.658000	0.29665	0.098000	0.18820	5.239000	0.65371	1.237000	0.43756	0.655000	0.94253	CGA		0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		8	291	0	0	0	1	0	8	291					A	17038840	G	A	17038840	4	1	104	1	0	0	0	0	0	1	0	0	3804	1095	38	1	2380	1	CPAMD8	19	17038840	Nonsense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	4883167	17038840	42090143	110	35470											
CEACAM1	634	broad.mit.edu	37	chr19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccgctgtttgCgggccctggggtagcttgtt	14	11	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						318	269	285					19																	43031337		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031337C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr					LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T	p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	414	-		Prostate(69;0.00682)	94			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.280G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		7	1036	0	0	0	1	0	7	1036					T	43031337	C	T	43031337	3	4	104	1	0	0	0	0	1	0	0	0	3196	768	27	1	1429	1	CEACAM1	19	43031337	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	25992497	43031337	16097646	111	35471											
ZNF285	26974	broad.mit.edu	37	chr19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcttcttgaaggttcaCgatataatcctgactcacag	6	11	4	2	rs140033872		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(274-276)Gtg>Atg		zinc finger protein 285							89	89	89					19																	44892133		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892133C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.274G>A	19.37:g.44892133C>T	ENSP00000333595:p.Val92Met					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	p.V92M	NM_152354.3	NP_689567.3					4	338	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.274G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.739	0.137438	0.09032	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07021	3.23	3.33	0.726	0.18248	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46871	-0.9160	9	0.23891	T	0.37	.	4.9771	0.14146	0.0:0.1211:0.4682:0.4107	.	116;92	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	115;92	ENSP00000333595:V92M	ENSP00000333595:V92M	V	-	1	0	ZNF285	49583973	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.764000	0.04735	-0.369000	0.08028	-0.566000	0.04163	GTG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		8	571	0	0	0	1	0	8	571					T	44892133	C	T	44892133	3	4	104	1	0	0	0	0	1	0	0	0	17875	536	19	1	1502	1	ZNF285	19	44892133	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	1860796	44892133	14236850	112	35472											
NLRP8	126205	broad.mit.edu	37	chr19	56466067	56466067	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagggagctcctgggatcGgaaaaacaatcctggccaaa	11	10	0	0	rs372844411		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	215	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTGGGATCGGAAAAACAAT	0.527																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(643-645)Gga>Aga		NLR family, pyrin domain containing 8		G	ARG/GLY	0,4406		0,0,2203	86	70	75		643	0.9	0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP8	NM_176811.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/1049	56466067	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466067G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.643G>A	19.37:g.56466067G>A	ENSP00000291971:p.Gly215Arg					NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	714	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	215			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.643G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275207	0.40194	0.0	1.16E-4	ENSG00000179709	ENST00000291971	D	0.90133	-2.62	2.04	0.899	0.19271	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.94450	0.8214	M	0.87971	2.92	0.19775	N	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	9	0.87932	D	0	.	5.4852	0.16745	0.0:0.0:0.6708:0.3292	.	215;215	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	215	ENSP00000291971:G215R	ENSP00000291971:G215R	G	+	1	0	NLRP8	61157879	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	4.154000	0.58125	0.368000	0.24481	0.514000	0.50259	GGA		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		11	294	0	0	0	1	0	11	294					A	56466067	G	A	56466067	3	1	104	1	0	0	0	0	1	0	0	0	10525	1117	39	1	653	1	NLRP8	19	56466067	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	11573934	56466067	2662916	113	35473											
ZNF584	201514	broad.mit.edu	37	chr19	58928643	58928643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtaaaaccttcaaccGcaaagacgcacttgttctac	7	12	2	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr19:58928643G>A	ENST00000306910.4	+	4	1281	c.758G>A	c.(757-759)cGc>cAc	p.R253H	ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|CTD-2619J13.16_ENST00000596296.1_lincRNA	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	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)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACCTTCAACCGCAAAGACGCA	0.463																																						ENST00000306910.4																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(757-759)cGc>cAc		zinc finger protein 584							90	78	82					19																	58928643		2203	4300	6503	SO:0001583	missense	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58928643G>A	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.758G>A	19.37:g.58928643G>A	ENSP00000306756:p.Arg253His					ZNF584_ENST00000593920.1_Missense_Mutation_p.R208H|ZNF584_ENST00000599238.1_3'UTR	p.R253H	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	4	1281	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	253					A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	c.758G>A	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442947	0.25987	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.36340	1.26	3.78	1.63	0.23807	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26991	0.0661	L	0.50333	1.59	0.09310	N	1	B	0.25955	0.138	B	0.22880	0.042	T	0.27157	-1.0082	9	0.13108	T	0.6	.	7.1665	0.25693	0.227:0.0:0.773:0.0	.	253	Q8IVC4	ZN584_HUMAN	H	253;112	ENSP00000306756:R253H	ENSP00000306756:R253H	R	+	2	0	ZNF584	63620455	0.000000	0.05858	1.000000	0.80357	0.863000	0.49368	-1.284000	0.02793	0.389000	0.25086	0.555000	0.69702	CGC		0.463	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		5	277	0	0	0	1	0	5	277					A	58928643	G	A	58928643	3	1	104	1	0	0	0	0	1	0	0	0	18069	1087	38	1	772	1	ZNF584	19	58928643	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	2462576	58928643	200340	114	35474											
C20orf194	25943	broad.mit.edu	37	chr20	3235916	3235916	+	Frame_Shift_Del	DEL	T	T	-													atccccctggtcttcagggcTttcctctgaggcttctgcag					rs2281496	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:3235916delT	ENST00000252032.9	-	35	3343	c.3276delA	c.(3274-3276)aaafs	p.K1092fs	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1092										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCTTCAGGGCTTTCCTCTGAG	0.612																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(3274-3276)aafs		chromosome 20 open reading frame 194							46	51	49					20																	3235916		1888	3930	5818	SO:0001589	frameshift_variant	25943							g.chr20:3235916delT	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.3276delA	20.37:g.3235916delT	ENSP00000252032:p.Lys1092fs					C20orf194_ENST00000453730.2_3'UTR	p.K1092fs	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			35	3343	-			1092					Q66K86|Q6P2R9|Q9UFX9	Frame_Shift_Del	DEL	ENST00000252032.9	37	c.3276delA	CCDS42851.1																																																																																				0.612	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		2	4						2	4	---	---	---	---	-	3235916	T	-	3235916	7	5	104	1	0	1	0	1	0	0	0	0	2106	1606	56	0	269	0	C20orf194	20	3235916	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08		3235916	59789604	115	35475											
SEL1L2	80343	broad.mit.edu	37	chr20	13850192	13850192	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgcgtcgggccacccTttttccgcagctttctgaaa	9	13	1	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:13850192T>C	ENST00000284951.5	-	14	1286	c.1212A>G	c.(1210-1212)aaA>aaG	p.K404K	SEL1L2_ENST00000378072.5_Silent_p.K404K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	404						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGGCCACCCTTTTTCCGCAG	0.393																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1210-1212)aaA>aaG		sel-1 suppressor of lin-12-like 2 (C. elegans)							106	99	101					20																	13850192		1868	4113	5981	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13850192T>C	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.1212A>G	20.37:g.13850192T>C						SEL1L2_ENST00000378072.5_Silent_p.K404K|SEL1L2_ENST00000486903.1_5'UTR	p.K404K			Q5TEA6	SE1L2_HUMAN			14	1286	-			404					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1212A>G																																																																																					0.393	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		4	272	0	0	0	1	0	4	272					C	13850192	T	C	13850192	2	2	104	1	0	0	0	0	0	0	0	1	14061	1606	56	4		4	SEL1L2	20	13850192	Silent	SNP	T	TCGA-LB-A9Q5-01A-11D-A397-08	10614276	13850192	49175328	116	35476											
KCNB1	3745	broad.mit.edu	37	chr20	47989772	47989772	+	Frame_Shift_Del	DEL	G	G	-													gtgctcccagggaggcttttGggggggctggagtccacact							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:47989772delG	ENST00000371741.4	-	2	2491	c.2325delC	c.(2323-2325)cccfs	p.P775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					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)	GGAGGCTTTTGGGGGGGCTGG	0.547																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2323-2325)ccfs		potassium voltage-gated channel, Shab-related subfamily, member 1							204	223	216					20																	47989772		2203	4300	6503	SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989772delG	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.2325delC	20.37:g.47989772delG	ENSP00000360806:p.Pro775fs						p.P775fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2491	-			775					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.2325delC	CCDS13418.1																																																																																				0.547	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	1635						7	1635	---	---	---	---	-	47989772	G	-	47989772	7	5	104	1	0	1	0	1	0	0	0	0	8042	1335	47	0	255	0	KCNB1	20	47989772	Frame_Shift_Del	DEL	G	TCGA-LB-A9Q5-01A-11D-A397-08	34139580	47989772	15035748	117	35477											
PHACTR3	116154	broad.mit.edu	37	chr20	58318299	58318299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aatggaggaaaaagaaaaacGaaaaactgaagcagacaacg	10	5	0	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:58318299G>A	ENST00000371015.1	+	2	723	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	86						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)			AAAGAAAAACGAAAAACTGAA	0.577																																						ENST00000371015.1																			0				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						c.(256-258)Gaa>Aaa		phosphatase and actin regulator 3																																				SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318299G>A	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.256G>A	20.37:g.58318299G>A	ENSP00000360054:p.Glu86Lys					PHACTR3_ENST00000541461.1_Missense_Mutation_p.E45K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E45K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E45K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E83K	p.E86K	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	723	+	all_lung(29;0.00344)		86					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.256G>A	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154383	0.94686	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.46063	1.21;1.15;0.88;1.24;1.24;1.24;0.88	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.63010	0.2475	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.988;0.986;0.986	T	0.66670	-0.5865	10	0.51188	T	0.08	-17.4511	15.6464	0.77055	0.0:0.0:1.0:0.0	.	45;86;83	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	K	83;86;45;45;45;45;45	ENSP00000353002:E83K;ENSP00000360054:E86K;ENSP00000379001:E45K;ENSP00000442483:E45K;ENSP00000347866:E45K;ENSP00000378998:E45K;ENSP00000354555:E45K	ENSP00000347866:E45K	E	+	1	0	PHACTR3	57751694	1.000000	0.71417	0.934000	0.37439	0.898000	0.52572	9.593000	0.98250	1.910000	0.55303	0.462000	0.41574	GAA		0.577	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		9	225	0	0	0	1	0	9	225					A	58318299	G	A	58318299	3	1	104	1	0	0	0	0	1	0	0	0	11853	1059	37	1	262	1	PHACTR3	20	58318299	Missense_Mutation	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	10328527	58318299	4707221	118	35478											
YTHDF1	54915	broad.mit.edu	37	chr20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-													cagcctcaccttgcgcaccaCctcctcctcctcctggcgct							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		7	598						7	598	---	---	---	---	-	61833652	CCT	-	61833650	7	5	104	1	0	1	0	1	0	0	0	0	17552	507	18	0	45	0	YTHDF1	20	61833650	In_Frame_Del	DEL	CCT	TCGA-LB-A9Q5-01A-11D-A397-08	3515351	61833650	1191870	119	35479											
MICAL3	57553	broad.mit.edu	37	chr22	18301393	18301393	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggctcgggccccttgctgCggtccacaggtgtgagcccg	16	14	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chr22:18301393C>T	ENST00000441493.2	-	26	4386	c.4034G>A	c.(4033-4035)cGc>cAc	p.R1345H	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1345	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)		CCCCTTGCTGCGGTCCACAGG	0.632																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4033-4035)cGc>cAc		microtubule associated monooxygenase, calponin and LIM domain containing 3							52	62	59					22																	18301393		1988	4162	6150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301393C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4034G>A	22.37:g.18301393C>T	ENSP00000416015:p.Arg1345His						p.R1345H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4386	-		all_epithelial(15;0.198)	1345			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.4034G>A	CCDS46659.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.557135|3.557135	0.65425|0.65425	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.78003	.|-1.14	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	D|D	0.86418|0.86418	0.5928|0.5928	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.86441|0.86441	0.1767|0.1767	5|9	.|0.44086	.|T	.|0.13	.|.	17.7462|17.7462	0.88421|0.88421	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1345	.|Q7RTP6	.|MICA3_HUMAN	T|H	327|1345	.|ENSP00000416015:R1345H	.|ENSP00000416015:R1345H	A|R	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681393|16681393	1.000000|1.000000	0.71417|0.71417	0.157000|0.157000	0.22605|0.22605	0.229000|0.229000	0.25112|0.25112	7.482000|7.482000	0.81143|0.81143	2.188000|2.188000	0.69820|0.69820	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.632	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			5	515	0	0	0	1	0	5	515					T	18301393	C	T	18301393	3	4	104	1	0	0	0	0	1	0	0	0	9612	768	27	1	2002	1	MICAL3	22	18301393	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08		18301393	33003173	120	35480											
RAI2	10742	broad.mit.edu	37	chrX	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-													gccgttatttactttcttggAaaaaaggtggccagccgttg							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)tttfs	p.F527fs	RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1579-1581)ttfs		retinoic acid induced 2							182	201	195					X																	17818550		2203	4300	6503	SO:0001589	frameshift_variant	10742				embryo development			g.chrX:17818550delA	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1581delT	X.37:g.17818550delA	ENSP00000444210:p.Phe527fs					RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs	p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	2041	-	Hepatocellular(33;0.183)		527					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Frame_Shift_Del	DEL	ENST00000545871.1	37	c.1581delT	CCDS14183.1																																																																																				0.333	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		7	2140						7	2140	---	---	---	---	-	17818550	A	-	17818550	7	5	104	1	0	1	0	1	0	0	0	0	13059	243	9	0	15	0	RAI2	23	17818550	Frame_Shift_Del	DEL	A	TCGA-LB-A9Q5-01A-11D-A397-08		17818550	137452010	121	35481											
HUWE1	10075	broad.mit.edu	37	chrX	53566769	53566769	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tccccctgtggggttccatcGgaggctggagggcacacaga	15	12	0	1			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:53566769G>T	ENST00000342160.3	-	74	11938	c.11481C>A	c.(11479-11481)tcC>tcA	p.S3827S	HUWE1_ENST00000262854.6_Silent_p.S3827S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3827					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						GGGTTCCATCGGAGGCTGGAG	0.502																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(11479-11481)tcC>tcA		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							39	32	34					X																	53566769		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53566769G>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11481C>A	X.37:g.53566769G>T						HUWE1_ENST00000262854.6_Silent_p.S3827S	p.S3827S			Q7Z6Z7	HUWE1_HUMAN			74	11938	-			3827					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.11481C>A	CCDS35301.1																																																																																				0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	78	1	0	1.024e-07	1	1.05661e-07	4	78					T	53566769	G	T	53566769	2	4	104	1	0	0	0	0	0	0	0	1	7491	1103	39	3		3	HUWE1	23	53566769	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	35748219	53566769	101703791	122	35482											
NAP1L3	4675	broad.mit.edu	37	chrX	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-													gccgctgctgctgccactagTgctgctgctgctgctgctgt							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.S43del|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				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						ctgccactagtgctgctgctgct	0.586																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(148-153)act>a		nucleosome assembly protein 1-like 3				192,3509		5,127,55,1456,470						-0.4	0			14	387,6034		9,190,179,2144,1556	no	coding	NAP1L3	NM_004538.5		14,317,234,3600,2026	A1A1,A1R,A1,RR,R		6.0271,5.1878,5.7202				579,9543				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928153_92928155delTGC		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.149_151delGCA	X.37:g.92928162_92928164delTGC	ENSP00000362171:p.Ser50del					NAP1L3_ENST00000475430.1_5'UTR	p.ST50del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	412_414	-			50			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.149_151delGCA	CCDS14465.1																																																																																				0.586	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		9	195						9	195	---	---	---	---	-	92928155	TGC	-	92928153	7	5	104	1	0	1	0	1	0	0	0	0	10199	1696	59	0	1373	0	NAP1L3	23	92928153	In_Frame_Del	DEL	TGC	TCGA-LB-A9Q5-01A-11D-A397-08	39361384	92928153	62342407	123	35483											
BEX4	56271	broad.mit.edu	37	chrX	102471391	102471391	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagatgaggcactatatgCgcttccaaactcctgaacct	8	12	0	3	rs139178618	byFrequency	TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:102471391C>T	ENST00000372695.5	+	3	545	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	104						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GCACTATATGCGCTTCCAAAC	0.418																																						ENST00000372695.5																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						c.(310-312)Cgc>Tgc		brain expressed, X-linked 4							198	170	179					X																	102471391		2203	4300	6503	SO:0001583	missense	56271					cytoplasm|nucleus		g.chrX:102471391C>T	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"brain expressed X-linked-like 1", "BEX family member 4"	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.310C>T	X.37:g.102471391C>T	ENSP00000361780:p.Arg104Cys					BEX4_ENST00000372691.3_Missense_Mutation_p.R104C	p.R104C	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN			3	545	+			104						Missense_Mutation	SNP	ENST00000372695.5	37	c.310C>T	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778944	0.49891	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.49720	0.77;0.77	3.84	2.98	0.34508	.	0.159217	0.30277	N	0.009992	T	0.43344	0.1243	M	0.76170	2.325	0.09310	N	1	B	0.26195	0.144	B	0.21151	0.033	T	0.44907	-0.9297	10	0.59425	D	0.04	.	6.479	0.22053	0.0:0.8657:0.0:0.1343	.	104	Q9NWD9	BEX4_HUMAN	C	104	ENSP00000361780:R104C;ENSP00000361776:R104C	ENSP00000361776:R104C	R	+	1	0	BEX4	102358047	0.001000	0.12720	0.001000	0.08648	0.847000	0.48162	0.082000	0.14847	0.979000	0.38497	0.594000	0.82650	CGC		0.418	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		19	564	0	0	0	1	0	19	564					T	102471391	C	T	102471391	3	4	104	1	0	0	0	0	1	0	0	0	1414	768	27	1	312	1	BEX4	23	102471391	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	9543238	102471391	52799169	124	35484											
AMOT	154796	broad.mit.edu	37	chrX	112058783	112058785	+	In_Frame_Del	DEL	GCT	GCT	-													ttctcctggctgctgctgtgGctgctgctgctgctgttgtt							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:112058783_112058785delGCT	ENST00000524145.1	-	3	1267_1269	c.1193_1195delAGC	c.(1192-1197)cagcca>cca	p.Q398del	AMOT_ENST00000371958.1_In_Frame_Del_p.Q166del|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_In_Frame_Del_p.Q166del|AMOT_ENST00000371959.3_In_Frame_Del_p.Q398del			Q4VCS5	AMOT_HUMAN	angiomotin	398					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						tgctgctgtggctgctgctgctg	0.562																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1192-1197)cca>c		angiomotin																																				SO:0001651	inframe_deletion	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112058783_112058785delGCT	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.1193_1195delAGC	X.37:g.112058792_112058794delGCT	ENSP00000429013:p.Gln398del					AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_In_Frame_Del_p.QP166del|AMOT_ENST00000371962.1_In_Frame_Del_p.QP166del|AMOT_ENST00000524145.1_In_Frame_Del_p.QP398del	p.QP398del	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			2	1192_1194	-			398					Q504X5|Q9HD27|Q9UPT1	In_Frame_Del	DEL	ENST00000524145.1	37	c.1193_1195delAGC	CCDS48154.1																																																																																				0.562	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		9	253						9	253	---	---	---	---	-	112058785	GCT	-	112058783	7	5	104	1	0	1	0	1	0	0	0	0	582	1203	42	0	2099	0	AMOT	23	112058783	In_Frame_Del	DEL	GCT	TCGA-LB-A9Q5-01A-11D-A397-08	9587392	112058783	43211777	125	35485											
MAGEC1	9947	broad.mit.edu	37	chrX	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctccacttt					rs141900922|rs138660605|rs386828016		TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	308				SSS -> PSF (in Ref. 2; AAC24227). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(922-927)agc>ag		melanoma antigen family C, 1				8,3698		0,2,6,1588,520							0.1			130	41,6388		0,12,29,2341,1694	no	coding	MAGEC1	NM_005462.4		0,14,35,3929,2214	A1A1,A1R,A1,RR,R		0.6377,0.2159,0.4835				49,10086				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994114_140994116delCTC	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.924_926delCTC	X.37:g.140994123_140994125delCTC	ENSP00000285879:p.Ser313del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS312del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1210_1212	+	Acute lymphoblastic leukemia(192;6.56e-05)		312					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.924_926delCTC	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	1581						7	1581	---	---	---	---	-	140994116	CTC	-	140994114	7	5	104	1	0	1	0	1	0	0	0	0	9221	796	28	0	930	0	MAGEC1	23	140994114	In_Frame_Del	DEL	CTC	TCGA-LB-A9Q5-01A-11D-A397-08	28935331	140994114	14276446	126	35486											
SPANXN2	494119	broad.mit.edu	37	chrX	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-													ctaacaatcttacctcatcaTtttttttgttattggattca							TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(70-72)atfs		SPANX family, member N2				0,17,3704		0,0,0,1,12,3,1579,534	214	197	202			-0.2	0	X		204	1,105,6378		0,0,1,7,61,30,2288,1740	no	codingComplex	SPANXN2	NM_001009615.1		0,0,1,8,73,33,3867,2274	A1A1,A1A2,A1R,A2A2,A2R,A2,RR,R		1.6348,0.4569,1.2053			142803692	1,122,10082	2203	4300	6503	SO:0001589	frameshift_variant	494119							g.chrX:142803692delT		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.71delA	X.37:g.142803692delT	ENSP00000359529:p.Asn24fs						p.N24fs	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	824	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNM2	Frame_Shift_Del	DEL	ENST00000370498.1	37	c.71delA	CCDS35419.1																																																																																				0.443	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		12	919						12	919	---	---	---	---	-	142803692	T	-	142803692	7	5	104	1	0	1	0	1	0	0	0	0	15043	1493	52	0	479	0	SPANXN2	23	142803692	Frame_Shift_Del	DEL	T	TCGA-LB-A9Q5-01A-11D-A397-08	1809578	142803692	12466868	127	35487											
MTM1	4534	broad.mit.edu	37	chrX	149832023	149832023	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatatccagttgccagtatgCgtcacttggaactctgggtg	11	9	2	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:149832023C>T	ENST00000370396.2	+	14	1639	c.1585C>T	c.(1585-1587)Cgt>Tgt	p.R529C	MTM1_ENST00000413012.2_Missense_Mutation_p.R492C|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	529	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGTATGCGTCACTTGGA	0.358																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1585-1587)Cgt>Tgt		myotubularin 1							91	79	83					X																	149832023		2203	4300	6503	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832023C>T	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1585C>T	X.37:g.149832023C>T	ENSP00000359423:p.Arg529Cys					MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.R414C|MTM1_ENST00000413012.2_Missense_Mutation_p.R492C	p.R529C	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			14	1639	+	Acute lymphoblastic leukemia(192;6.56e-05)		529			Myotubularin phosphatase.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1585C>T	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790939	0.50102	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.90261	-2.64;-2.64;-2.64	5.39	4.52	0.55395	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.89798	0.6819	M	0.85777	2.775	0.80722	D	1	P;B	0.35033	0.481;0.245	B;B	0.26094	0.055;0.066	D	0.87953	0.2725	10	0.44086	T	0.13	.	13.4599	0.61221	0.0:0.9221:0.0:0.0779	.	492;529	B7Z491;Q13496	.;MTM1_HUMAN	C	529;414;492	ENSP00000359423:R529C;ENSP00000439784:R414C;ENSP00000389157:R492C	ENSP00000359423:R529C	R	+	1	0	MTM1	149582681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.262000	0.78410	1.039000	0.40074	0.513000	0.50165	CGT		0.358	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		6	720	0	0	0	1	0	6	720					T	149832023	C	T	149832023	3	4	104	1	0	0	0	0	1	0	0	0	9978	768	27	1	1635	1	MTM1	23	149832023	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	7028331	149832023	5438537	128	35488											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		9	414	0	0	0	1	0	9	414					A	150156360	G	A	150156360	2	1	104	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-LB-A9Q5-01A-11D-A397-08	324337	150156360	5114200	129	35489											
PDZD4	57595	broad.mit.edu	37	chrX	153069209	153069209	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcgcacgggccgcttggCcacgtagcgggttccgtcgc	14	15	1	0			TCGA-LB-A9Q5-01A-11D-A397-08	TCGA-LB-A9Q5-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	672b821b-fc2b-4b1f-955d-93cfec7be541	d254b381-9cf2-480d-a681-ad441818a4dc	g.chrX:153069209C>T	ENST00000164640.4	-	8	2100	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T	PDZD4_ENST00000393758.2_Missense_Mutation_p.A562T|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	637						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)					GGCCGCTTGGCCACGTAGCGG	0.701																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1909-1911)Gcc>Acc		PDZ domain containing 4							39	38	39					X																	153069209		2200	4289	6489	SO:0001583	missense	57595					cell cortex		g.chrX:153069209C>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1909G>A	X.37:g.153069209C>T	ENSP00000164640:p.Ala637Thr					PDZD4_ENST00000393758.2_Missense_Mutation_p.A562T|PDZD4_ENST00000544474.1_Missense_Mutation_p.A528T	p.A637T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	2100	-	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)		637					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	ENST00000164640.4	37	c.1909G>A	CCDS14732.1	.	.	.	.	.	.	.	.	.	.	C	3.586	-0.084693	0.07097	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.40756	1.02;1.02;1.02	5.67	5.67	0.87782	.	0.103028	0.64402	D	0.000003	T	0.14830	0.0358	N	0.02120	-0.675	0.52501	D	0.999951	B;B;B;B;B	0.29612	0.035;0.06;0.251;0.251;0.012	B;B;B;B;B	0.25987	0.012;0.023;0.042;0.065;0.012	T	0.26155	-1.0111	10	0.02654	T	1	-31.8884	11.0287	0.47759	0.0:0.9117:0.0:0.0883	.	528;643;637;562;541	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	T	637;562;541;528	ENSP00000164640:A637T;ENSP00000377355:A562T;ENSP00000442033:A528T	ENSP00000164640:A637T	A	-	1	0	PDZD4	152722403	0.872000	0.30054	1.000000	0.80357	0.791000	0.44710	1.655000	0.37345	2.385000	0.81259	0.529000	0.55759	GCC		0.701	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	446	0	0	0	1	0	5	446					T	153069209	C	T	153069209	3	4	104	1	0	0	0	0	1	0	0	0	11745	739	26	2	404	2	PDZD4	23	153069209	Missense_Mutation	SNP	C	TCGA-LB-A9Q5-01A-11D-A397-08	2912849	153069209	2201351	130	35490											
UBR4	23352	broad.mit.edu	37	chr1	19420503	19420503	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tctgcattttctccacctctCcaaaggaaaggtacgggatg	9	11	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19420503C>G	ENST00000375254.3	-	95	13904	c.13877G>C	c.(13876-13878)gGa>gCa	p.G4626A	UBR4_ENST00000543981.1_Missense_Mutation_p.G290A|UBR4_ENST00000375217.2_Missense_Mutation_p.G4619A|UBR4_ENST00000375226.2_Missense_Mutation_p.G4602A|UBR4_ENST00000429347.2_Missense_Mutation_p.G149A|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375267.2_Missense_Mutation_p.G4626A|UBR4_ENST00000375224.1_Missense_Mutation_p.G333A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4626					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)		CTCCACCTCTCCAAAGGAAAG	0.468																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(13876-13878)gGa>gCa		ubiquitin protein ligase E3 component n-recognin 4							94	85	88					1																	19420503		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19420503C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13877G>C	1.37:g.19420503C>G	ENSP00000364403:p.Gly4626Ala					UBR4_ENST00000543981.1_Missense_Mutation_p.G290A|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375254.3_Missense_Mutation_p.G4626A|UBR4_ENST00000375226.2_Missense_Mutation_p.G4602A|UBR4_ENST00000375217.2_Missense_Mutation_p.G4619A|UBR4_ENST00000375224.1_Missense_Mutation_p.G333A|UBR4_ENST00000429347.2_Missense_Mutation_p.G149A	p.G4626A			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	95	13880	-		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)	4626					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.13877G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134565	0.94517	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.88450	2.955	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.995;0.995;0.997;0.992	T	0.76146	-0.3066	10	0.72032	D	0.01	.	18.7785	0.91922	0.0:1.0:0.0:0.0	.	290;149;4626;4602	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	A	4626;4626;4619;4602;333;149;290	ENSP00000364403:G4626A;ENSP00000364416:G4626A;ENSP00000364365:G4619A;ENSP00000364374:G4602A;ENSP00000364372:G333A;ENSP00000394173:G149A;ENSP00000444070:G290A	ENSP00000364365:G4619A	G	-	2	0	UBR4	19293090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.785000	0.95823	0.591000	0.81541	GGA		0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	157	0	0	0	1	0	4	157					G	19420503	C	G	19420503	3	3	105	1	0	0	0	0	1	0	0	0	16958	855	30	5	1722	5	UBR4	1	19420503	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		19420503	229830118	1	35491											
UBR4	23352	broad.mit.edu	37	chr1	19464627	19464627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacacttcctggtccagccGgatgcccctcagctgtagca	10	15	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19464627G>A	ENST00000375254.3	-	60	8807	c.8780C>T	c.(8779-8781)cCg>cTg	p.P2927L	UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L|UBR4_ENST00000375267.2_Missense_Mutation_p.P2927L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2927					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)		TGGTCCAGCCGGATGCCCCTC	0.542																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8779-8781)cCg>cTg		ubiquitin protein ligase E3 component n-recognin 4							58	55	56					1																	19464627		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19464627G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8780C>T	1.37:g.19464627G>A	ENSP00000364403:p.Pro2927Leu					UBR4_ENST00000375254.3_Missense_Mutation_p.P2927L|UBR4_ENST00000375226.2_Missense_Mutation_p.P2903L|UBR4_ENST00000375217.2_Missense_Mutation_p.P2920L	p.P2927L			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	60	8783	-		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)	2927					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8780C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867697	0.51588	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.27256	1.74;1.74;1.68;1.7	5.83	4.89	0.63831	.	0.056992	0.64402	D	0.000001	T	0.25158	0.0611	L	0.57536	1.79	0.80722	D	1	P	0.36768	0.569	B	0.29663	0.105	T	0.05053	-1.0909	10	0.42905	T	0.14	.	15.9733	0.80036	0.0:0.0:0.8646:0.1354	.	2927	Q5T4S7	UBR4_HUMAN	L	2927;2927;2920;2903;535;1613	ENSP00000364403:P2927L;ENSP00000364416:P2927L;ENSP00000364365:P2920L;ENSP00000364374:P2903L	ENSP00000364365:P2920L	P	-	2	0	UBR4	19337214	1.000000	0.71417	0.967000	0.41034	0.793000	0.44817	7.308000	0.78929	2.770000	0.95276	0.655000	0.94253	CCG		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	152	0	0	0	1	0	4	152					A	19464627	G	A	19464627	3	1	105	1	0	0	0	0	1	0	0	0	16958	1116	39	1	6959	1	UBR4	1	19464627	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	44124	19464627	229785994	2	35492											
KIAA0090	23065	broad.mit.edu	37	chr1	19563697	19563697	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	accaaagcccggtagcccacTgagtcatccttcttcaagaa	7	14	3	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:19563697T>A	ENST00000477853.1	-	12	1290	c.1248A>T	c.(1246-1248)tcA>tcT	p.S416S	EMC1_ENST00000375199.3_Silent_p.S415S|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.S394S	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	416						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											GGTAGCCCACTGAGTCATCCT	0.483																																						ENST00000477853.1																			0											c.(1246-1248)tcA>tcT		ER membrane protein complex subunit 1							200	193	196					1																	19563697		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19563697T>A		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.1248A>T	1.37:g.19563697T>A						RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.S415S|EMC1_ENST00000375208.3_Silent_p.S394S	p.S416S	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					12	1290	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.1248A>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.447363	0.25987	.	.	ENSG00000127463	ENST00000375197	.	.	.	6.07	-12.1	0.00011	.	0.052548	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69548	-0.5116	6	0.87932	D	0	-15.318	3.3237	0.07059	0.1582:0.317:0.3859:0.1389	.	.	.	.	C	150	.	ENSP00000364343:S150C	S	-	1	0	KIAA0090	19436284	0.000000	0.05858	0.198000	0.23420	0.999000	0.98932	-6.580000	0.00060	-3.092000	0.00247	0.533000	0.62120	AGT		0.483	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		19	898	0	0	0	1	0	19	898					A	19563697	T	A	19563697	2	1	105	1	0	0	0	0	0	0	0	1	8183	1567	55	5		5	KIAA0090	1	19563697	Silent	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	99070	19563697	229686924	3	35493											
HSPG2	3339	broad.mit.edu	37	chr1	22186350	22186350	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcgctgctgggtgccGctgggcacaggccgcccatc	15	14	0	1	rs138980184	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:22186350G>A	ENST00000374695.3	-	41	5239	c.5160C>T	c.(5158-5160)agC>agT	p.S1720S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1720	Ig-like C2-type 2.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGGGTGCCGCTGGGCACAG	0.662													G|||	4	0.000798722	0.0	0.0	5008	,	,		17602	0.0		0.004	False		,,,				2504	0.0					ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(5158-5160)agC>agT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G		1,4403	2.1+/-5.4	0,1,2201	27	27	27		5160	4	1	1	dbSNP_134	27	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	HSPG2	NM_005529.5		0,6,6496	AA,AG,GG		0.0581,0.0227,0.0461		1720/4392	22186350	6,12998	2202	4300	6502	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22186350G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5160C>T	1.37:g.22186350G>A							p.S1720S	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	41	5239	-		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)	1720			Ig-like C2-type 2.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.5160C>T	CCDS30625.1																																																																																				0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	101	0	0	0	1	0	4	101					A	22186350	G	A	22186350	2	1	105	1	0	0	0	0	0	0	0	1	7460	1078	38	1		1	HSPG2	1	22186350	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2622653	22186350	227064271	4	35494											
KDM1A	23028	broad.mit.edu	37	chr1	23376891	23376891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgttaggtgtggagggcGcagctttccagagccgactt	14	10	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23376891G>A	ENST00000356634.3	+	3	678	c.529G>A	c.(529-531)Gca>Aca	p.A177T	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Missense_Mutation_p.A197T|KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	177	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTGGAGGGCGCAGCTTTCCA	0.468																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(589-591)Gca>Aca		lysine (K)-specific demethylase 1A							120	111	114					1																	23376891		2203	4300	6503	SO:0001583	missense	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23376891G>A	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.529G>A	1.37:g.23376891G>A	ENSP00000349049:p.Ala177Thr					KDM1A_ENST00000356634.3_Missense_Mutation_p.A177T|KDM1A_ENST00000542151.1_Missense_Mutation_p.A197T|RP1-184J9.2_ENST00000427154.1_RNA	p.A197T	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			4	693	+			177			SWIRM.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	c.589G>A	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755977	0.96898	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.49139	1.16;0.79;0.8	5.73	5.73	0.89815	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75522	-0.3288	10	0.72032	D	0.01	-23.8292	19.2577	0.93952	0.0:0.0:1.0:0.0	.	197;177	O60341-2;O60341	.;KDM1A_HUMAN	T	177;197;197	ENSP00000349049:A177T;ENSP00000383042:A197T;ENSP00000439072:A197T	ENSP00000349049:A177T	A	+	1	0	KDM1A	23249478	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.816000	0.99350	2.854000	0.98071	0.655000	0.94253	GCA		0.468	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		5	335	0	0	0	1	0	5	335					A	23376891	G	A	23376891	3	1	105	1	0	0	0	0	1	0	0	0	8152	1087	38	1	603	1	KDM1A	1	23376891	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1190541	23376891	225873730	5	35495											
LUZP1	7798	broad.mit.edu	37	chr1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatggctctagaccGcaacgcctctctggggctaa	11	11	2	3	rs146031719	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2251-2253)Cgg>Tgg		leucine zipper protein 1		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	143	140		2251,2251	3.4	1	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418504G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp					LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W|LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W	p.R751W			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3052	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	751					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2251C>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	LUZP1	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG		0.478	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		5	723	0	0	0	1	0	5	723					A	23418504	G	A	23418504	3	1	105	1	0	0	0	0	1	0	0	0	9124	1086	38	1	987	1	LUZP1	1	23418504	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	41613	23418504	225832117	6	35496											
LUZP1	7798	broad.mit.edu	37	chr1	23420152	23420159	+	Frame_Shift_Del	DEL	ATTCAAGT	ATTCAAGT	-													tcattttctttctccttttcAttcaagtattttctctcact					rs553150678		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:23420152_23420159delATTCAAGT	ENST00000302291.4	-	4	1397_1404	c.596_603delACTTGAAT	c.(595-603)tacttgaatfs	p.YLN199fs	LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	199					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCTCCTTTTCATTCAAGTATTTTCTCTC	0.351																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(595-603)tfs		leucine zipper protein 1																																				SO:0001589	frameshift_variant	7798					nucleus		g.chr1:23420152_23420159delATTCAAGT	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.596_603delACTTGAAT	1.37:g.23420152_23420159delATTCAAGT	ENSP00000303758:p.Tyr199fs					LUZP1_ENST00000314174.5_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000374623.3_Frame_Shift_Del_p.YLN199fs|LUZP1_ENST00000418342.1_Frame_Shift_Del_p.YLN199fs	p.YLN199fs			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1397_1404	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	199					Q5TH93|Q8N4X3|Q8TEH1	Frame_Shift_Del	DEL	ENST00000302291.4	37	c.596_603delACTTGAAT	CCDS30628.1																																																																																				0.351	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		39	157						39	157	---	---	---	---	-	23420159	ATTCAAGT	-	23420152	7	5	105	1	0	1	0	1	0	0	0	0	9124	214	8	0	2635	0	LUZP1	1	23420152	Frame_Shift_Del	DEL	ATTCAAGT	TCGA-OE-A75W-01A-12D-A32N-08	1648	23420152	225830469	7	35497											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948876	37948876	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagccttctctgcctttggCcgggccatgggtgctggcca	14	14	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:37948876C>T	ENST00000373087.6	+	6	1580	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1462-1464)ggC>ggT		zinc finger CCCH-type containing 12A							62	72	68					1																	37948876		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37948876C>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1464C>T	1.37:g.37948876C>T							p.G488G	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			6	1580	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	488			Pro-rich.			Silent	SNP	ENST00000373087.6	37	c.1464C>T	CCDS417.1																																																																																				0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		6	575	0	0	0	1	0	6	575					T	37948876	C	T	37948876	2	4	105	1	0	0	0	0	0	0	0	1	17614	726	26	2		2	ZC3H12A	1	37948876	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14528724	37948876	211301745	8	35498											
MAST2	23139	broad.mit.edu	37	chr1	46491369	46491369	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagactgtgccactctgCtgaagaatattggggccctg	15	9	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:46491369C>T	ENST00000361297.2	+	16	2084	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	MAST2_ENST00000372009.2_Silent_p.L531L	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGCCACTCTGCTGAAGAATAT	0.547																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1801-1803)Ctg>Ttg		microtubule associated serine/threonine kinase 2							104	113	110					1																	46491369		2179	4290	6469	SO:0001819	synonymous_variant	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46491369C>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1801C>T	1.37:g.46491369C>T						MAST2_ENST00000372008.1_Silent_p.L486L|MAST2_ENST00000372009.2_Silent_p.L531L	p.L601L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			16	2084	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		601			Protein kinase.			Silent	SNP	ENST00000361297.2	37	c.1801C>T	CCDS41326.1																																																																																				0.547	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		124	154	0	0	0	1	0	124	154					T	46491369	C	T	46491369	2	4	105	1	0	0	0	0	0	0	0	1	9366	796	28	2		2	MAST2	1	46491369	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	8542493	46491369	202759252	9	35499											
ZCCHC11	23318	broad.mit.edu	37	chr1	52927392	52927392	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaattcatacctggatgtCtcttaagaatttttgccaaa	5	8	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:52927392C>A	ENST00000371544.3	-	17	3381	c.3119G>T	c.(3118-3120)aGa>aTa	p.R1040I	ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1040I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1040					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						ACCTGGATGTCTCTTAAGAAT	0.214																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3118-3120)aGa>aTa		zinc finger, CCHC domain containing 11							10	10	10					1																	52927392		2093	4183	6276	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52927392C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3119G>T	1.37:g.52927392C>A	ENSP00000360599:p.Arg1040Ile					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1040I	p.R1040I	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			17	3381	-			1040					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3119G>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703685	0.68501	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.45	4.53	0.55603	Nucleotidyl transferase domain (1);	0.053333	0.64402	D	0.000001	T	0.49712	0.1573	L	0.49640	1.575	0.80722	D	1	B;D	0.63046	0.112;0.992	B;D	0.67382	0.18;0.951	T	0.53201	-0.8472	10	0.56958	D	0.05	.	3.6343	0.08143	0.229:0.5995:0.0:0.1715	.	799;1040	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	1040;1040;969;799	ENSP00000257177:R1040I;ENSP00000360599:R1040I;ENSP00000433486:R969I;ENSP00000435256:R799I	ENSP00000257177:R1040I	R	-	2	0	ZCCHC11	52699980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.468000	0.60162	2.550000	0.86006	0.585000	0.79938	AGA		0.214	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		9	20	1	0	0.0477658	1	0.0482026	9	20					A	52927392	C	A	52927392	3	1	105	1	0	0	0	0	1	0	0	0	17633	913	32	3	1874	3	ZCCHC11	1	52927392	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6436023	52927392	196323229	10	35500											
SSBP3	23648	broad.mit.edu	37	chr1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgggtggtggtctcatgCcgctgccgtaattctgcaac	13	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	222	Gly-rich.|Pro-rich.				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						TGGTCTCATGCCGCTGCCGTA	0.562																																						ENST00000371320.3																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(664-666)gGc>gAc		single stranded DNA binding protein 3							145	153	150					1																	54708959		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54708959C>T		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.665G>A	1.37:g.54708959C>T	ENSP00000360371:p.Gly222Asp					SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D	p.G222D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN			10	1075	-			222			Gly-rich.|Pro-rich.		A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.665G>A	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		0.562	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	NM_018070		6	916	0	0	0	1	0	6	916					T	54708959	C	T	54708959	3	4	105	1	0	0	0	0	1	0	0	0	15233	739	26	2	537	2	SSBP3	1	54708959	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1781567	54708959	194541662	11	35501											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				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)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				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						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	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.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		8	314						8	314	---	---	---	---	-	92447230	AGC	-	92447228	7	5	105	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-OE-A75W-01A-12D-A32N-08	37738269	92447228	156803393	12	35502											
NTNG1	22854	broad.mit.edu	37	chr1	107961223	107961223	+	Intron	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaaagtttaataggaTatggccgaatatttcttccc	6	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:107961223T>A	ENST00000370068.1	+	5	1933				NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.I370K|NTNG1_ENST00000370067.1_Missense_Mutation_p.I370K|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370066.1_Missense_Mutation_p.I370K|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370071.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370070.2_Missense_Mutation_p.I370K			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		TTTAATAGGATATGGCCGAAT	0.368																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1108-1110)aTa>aAa		netrin G1							110	94	99					1																	107961223		1567	3582	5149	SO:0001627	intron_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107961223T>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1087+10893T>A	1.37:g.107961223T>A						NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.I370K|NTNG1_ENST00000370071.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370066.1_Missense_Mutation_p.I370K|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000370070.2_Missense_Mutation_p.I370K|NTNG1_ENST00000370065.1_Intron	p.I370K			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	1736	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	378			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1109T>A	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074953	0.36566	.	.	ENSG00000162631	ENST00000370071;ENST00000370061;ENST00000370070;ENST00000370064;ENST00000370062;ENST00000370067;ENST00000370066	T;T;T;T;T	0.70516	-0.3;0.16;-0.49;-0.48;-0.3	5.92	4.78	0.61160	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.26420	N	0.976116	B;P	0.34757	0.0;0.467	B;B	0.31547	0.001;0.132	T	0.11891	-1.0569	9	0.29301	T	0.29	.	12.4919	0.55905	0.1254:0.0:0.0:0.8746	.	370;370	B4DKF0;Q9Y2I2-4	.;.	K	370;370;370;131;131;370;370	ENSP00000359088:I370K;ENSP00000359078:I370K;ENSP00000359087:I370K;ENSP00000359084:I370K;ENSP00000359083:I370K	ENSP00000359078:I370K	I	+	2	0	NTNG1	107762746	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.298000	0.51818	1.046000	0.40249	0.455000	0.32223	ATA		0.368	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		10	18	0	0	0	1	0	10	18					A	107961223	T	A	107961223	1	1	105	0	1	0	0	0	0	0	0	0	10746	1406	49	5		5	NTNG1	1	107961223	Intron	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	15513995	107961223	141289398	13	35503											
CELF3	11189	broad.mit.edu	37	chr1	151680404	151680404	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttcaccaccaggctggacGaggcaccctgggcacgggcc	13	16	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:151680404G>A	ENST00000290583.4	-	6	1287	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RIIAD1_ENST00000326413.3_5'Flank|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000290585.4_Missense_Mutation_p.S165L|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_5'Flank|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	165	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CAGGCTGGACGAGGCACCCTG	0.647																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(493-495)tCg>tTg		CUGBP, Elav-like family member 3							48	40	43					1																	151680404		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151680404G>A	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.494C>T	1.37:g.151680404G>A	ENSP00000290583:p.Ser165Leu					CELF3_ENST00000290585.4_Missense_Mutation_p.S165L|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000470688.1_5'UTR	p.S165L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			6	1287	-			165			RRM 2.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.494C>T	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.9|24.9	4.582586|4.582586	0.86748|0.86748	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000420342|ENST00000290585;ENST00000290583;ENST00000368833	.|T;T	.|0.06449	.|3.3;3.3	3.75|3.75	3.75|3.75	0.43078|0.43078	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.10165|0.10165	0.0249|0.0249	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;0.999;0.999;0.998	.|P;D;D;P;P	.|0.64877	.|0.834;0.93;0.918;0.887;0.819	T|T	0.04078|0.04078	-1.0979|-1.0979	5|10	.|0.87932	.|D	.|0	-4.7861|-4.7861	14.6626|14.6626	0.68882|0.68882	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|165;165;164;165;164	.|Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3	.|.;.;.;CELF3_HUMAN;.	C|L	166|165;165;164	.|ENSP00000290585:S165L;ENSP00000290583:S165L	.|ENSP00000290583:S165L	R|S	-|-	1|2	0|0	CELF3|CELF3	149947028|149947028	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.999000|0.999000	0.98932|0.98932	9.566000|9.566000	0.98157|0.98157	2.098000|2.098000	0.63641|0.63641	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.647	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		42	125	0	0	0	1	0	42	125					A	151680404	G	A	151680404	3	1	105	1	0	0	0	0	1	0	0	0	3226	1059	37	1	931	1	CELF3	1	151680404	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	43719181	151680404	97570217	14	35504											
CRNN	49860	broad.mit.edu	37	chr1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctcctgccttgaccgtggGtctcagtccctctgttctgg	12	14	3	1	rs3814301		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				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						c.(808-810)aCc>aTc		cornulin							260	258	259					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	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.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		8	1511	0	0	0	1	0	8	1511					A	152382749	G	A	152382749	3	1	105	1	0	0	0	0	1	0	0	0	3901	1261	44	2	682	2	CRNN	1	152382749	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	702345	152382749	96867872	15	35505											
PGLYRP3	114771	broad.mit.edu	37	chr1	153271680	153271680	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccaaccccttcataCacgccaccatcctggcccac	4	21	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:153271680C>A	ENST00000290722.1	-	6	808	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	252					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCTTCATACACGCCACCAT	0.458																																						ENST00000290722.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(754-756)gtG>gtT		peptidoglycan recognition protein 3							79	68	71					1																	153271680		2203	4300	6503	SO:0001819	synonymous_variant	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153271680C>A	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.756G>T	1.37:g.153271680C>A							p.V252V	NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	808	-	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)		252					A1A4U8|Q5SY65	Silent	SNP	ENST00000290722.1	37	c.756G>T	CCDS1035.1																																																																																				0.458	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		40	85	1	0	3.09479e-21	1	3.28325e-21	40	85					A	153271680	C	A	153271680	2	1	105	1	0	0	0	0	0	0	0	1	11837	465	17	3		3	PGLYRP3	1	153271680	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	888931	153271680	95978941	16	35506											
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-													tctcccagtcccgcaaaggcTtttccccctccgctgcctcc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					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)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)ctfs		CD1d molecule							202	226	218					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	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.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs						p.L25fs	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		7	2423						7	2423	---	---	---	---	-	158151257	T	-	158151257	7	5	105	1	0	1	0	1	0	0	0	0	2986	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	4879577	158151257	91099364	17	35507											
OR10J1	26476	broad.mit.edu	37	chr1	159410194	159410194	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctttgattatcagtgtgctgGtgcttgttgtacctatgggt	12	6	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:159410194G>T	ENST00000423932.3	+	1	683	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	216					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)					CAGTGTGCTGGTGCTTGTTGT	0.453																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(646-648)Gtg>Ttg		olfactory receptor, family 10, subfamily J, member 1							290	264	273					1																	159410194		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159410194G>T	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.646G>T	1.37:g.159410194G>T	ENSP00000399078:p.Val216Leu					RP11-550P17.5_ENST00000431862.1_RNA	p.V216L	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	683	+	all_hematologic(112;0.0429)		216					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.646G>T	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855739	0.51376	.	.	ENSG00000196184	ENST00000423932	T	0.00036	8.86	4.42	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002096	T	0.00073	0.0002	N	0.25245	0.725	0.09310	N	1	D	0.55385	0.971	P	0.58577	0.841	T	0.04440	-1.0951	10	0.45353	T	0.12	.	6.6645	0.23032	0.0986:0.1797:0.7217:0.0	.	216	P30954	O10J1_HUMAN	L	216	ENSP00000399078:V216L	ENSP00000399078:V216L	V	+	1	0	OR10J1	157676818	0.000000	0.05858	0.028000	0.17463	0.974000	0.67602	-0.144000	0.10280	1.155000	0.42497	0.650000	0.86243	GTG		0.453	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		161	411	1	0	4.56647e-68	1	4.89159e-68	161	411					T	159410194	G	T	159410194	3	4	105	1	0	0	0	0	1	0	0	0	10952	1261	44	3	648	3	OR10J1	1	159410194	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1258937	159410194	89840427	18	35508											
F5	2153	broad.mit.edu	37	chr1	169510463	169510463	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagaggtttgtctggctgaAgtctagagaaagggttgtat	15	3	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:169510463A>G	ENST00000367797.3	-	13	4066	c.3865T>C	c.(3865-3867)Ttc>Ctc	p.F1289L	F5_ENST00000367796.3_Missense_Mutation_p.F1294L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1289	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCTGGCTGAAGTCTAGAGAA	0.517																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3880-3882)Ttc>Ctc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						220	242	235					1																	169510463		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510463A>G	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.3865T>C	1.37:g.169510463A>G	ENSP00000356771:p.Phe1289Leu					F5_ENST00000367797.3_Missense_Mutation_p.F1289L	p.F1294L			P12259	FA5_HUMAN			13	4081	-	all_hematologic(923;0.208)		1289			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3880T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	1.760	-0.487165	0.04352	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.31247	1.5;1.5	5.07	-0.37	0.12530	.	1.074150	0.07077	N	0.836436	T	0.01287	0.0042	N	0.00368	-1.59	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	9	0.06891	T	0.86	.	1.8604	0.03187	0.3104:0.1296:0.4342:0.1258	.	1289	P12259	FA5_HUMAN	L	1289;1294	ENSP00000356771:F1289L;ENSP00000356770:F1294L	ENSP00000356770:F1294L	F	-	1	0	F5	167777087	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.944000	0.03913	-0.545000	0.06224	-0.215000	0.12644	TTC		0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	1718	0	0	0	1	0	8	1718					G	169510463	A	G	169510463	3	3	105	1	0	0	0	0	1	0	0	0	5366	72	3	4	2861	4	F5	1	169510463	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	10100269	169510463	79740158	19	35509											
CACNA1E	777	broad.mit.edu	37	chr1	181724500	181724500	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gggaaagttcttttattgcaCggacagttccaaggacacag	11	8	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:181724500C>G	ENST00000367573.2	+	28	3956	c.3956C>G	c.(3955-3957)aCg>aGg	p.T1319R	CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T1300R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1319					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						TTTTATTGCACGGACAGTTCC	0.453																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3898-3900)aCg>aGg		calcium channel, voltage-dependent, R type, alpha 1E subunit							234	228	230					1																	181724500		2095	4231	6326	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181724500C>G	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.3956C>G	1.37:g.181724500C>G	ENSP00000356545:p.Thr1319Arg					CACNA1E_ENST00000367567.4_Missense_Mutation_p.T926R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1319R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1319R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1270R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1251R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1300R	p.T1300R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			27	4064	+			1319					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3899C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707504	0.89018	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.982;0.998	D	0.99882	1.1115	10	0.87932	D	0	.	18.524	0.90965	0.0:1.0:0.0:0.0	.	1300;1319;1319	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	R	1319;1300;1270;1251;926;1300;1319	ENSP00000356542:T1319R;ENSP00000434814:T1300R;ENSP00000350183:T1270R;ENSP00000351101:T1251R;ENSP00000356539:T926R;ENSP00000353222:T1300R;ENSP00000356545:T1319R	ENSP00000350183:T1270R	T	+	2	0	CACNA1E	179991123	1.000000	0.71417	0.934000	0.37439	0.977000	0.68977	7.676000	0.84012	2.468000	0.83385	0.650000	0.86243	ACG		0.453	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	675	0	0	0	1	0	11	675					G	181724500	C	G	181724500	3	3	105	1	0	0	0	0	1	0	0	0	2549	536	19	5	4066	5	CACNA1E	1	181724500	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	12214037	181724500	67526121	20	35510											
RGS16	6004	broad.mit.edu	37	chr1	182569575	182569575	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgtcttcccctgagccGcatcaaagcatgtggctgtg	11	12	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:182569575G>A	ENST00000367558.5	-	5	609	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	154	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CCCCTGAGCCGCATCAAAGCA	0.602																																						ENST00000367558.5																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						c.(460-462)gCg>gTg		regulator of G-protein signaling 16							153	120	131					1																	182569575		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182569575G>A	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"Regulators of G-protein signaling"	9997	protein-coding gene	gene with protein product		602514	"regulator of G-protein signalling 16"			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.461C>T	1.37:g.182569575G>A	ENSP00000356529:p.Ala154Val						p.A154V	NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN			5	609	-			154			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.461C>T	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.927175	0.00493	.	.	ENSG00000143333	ENST00000367558	T	0.01998	4.51	5.38	-2.44	0.06502	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	1.166690	0.05992	N	0.646171	T	0.01320	0.0043	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47086	-0.9144	10	0.06891	T	0.86	.	5.0723	0.14613	0.4925:0.0:0.2363:0.2712	.	154	O15492	RGS16_HUMAN	V	154	ENSP00000356529:A154V	ENSP00000356529:A154V	A	-	2	0	RGS16	180836198	0.000000	0.05858	0.065000	0.19835	0.001000	0.01503	-0.510000	0.06328	-0.202000	0.10268	-1.223000	0.01593	GCG		0.602	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		6	563	0	0	0	1	0	6	563					A	182569575	G	A	182569575	3	1	105	1	0	0	0	0	1	0	0	0	13348	1087	38	1	151	1	RGS16	1	182569575	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	845075	182569575	66681046	21	35511											
HMCN1	83872	broad.mit.edu	37	chr1	186120449	186120449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgatactagaataatacGtgccaaaattaccaatgtac	5	9	1	2	rs148097981		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:186120449G>A	ENST00000271588.4	+	94	14955	c.14726G>A	c.(14725-14727)cGt>cAt	p.R4909H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4909	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAATAATACGTGCCAAAATT	0.318																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14725-14727)cGt>cAt		hemicentin 1		G	HIS/ARG	0,4406		0,0,2203	111	111	111		14726	-0.3	0.7	1	dbSNP_134	111	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HMCN1	NM_031935.2	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	4909/5636	186120449	4,13002	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186120449G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14726G>A	1.37:g.186120449G>A	ENSP00000271588:p.Arg4909His					HMCN1_ENST00000367492.2_Missense_Mutation_p.R4909H	p.R4909H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			94	14955	+			4909			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14726G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821570	0.16678	0.0	4.65E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.29397	1.57;1.57	5.13	-0.313	0.12754	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.353337	0.33272	N	0.005100	T	0.11452	0.0279	N	0.11201	0.11	0.27937	N	0.937675	B	0.02656	0.0	B	0.04013	0.001	T	0.26326	-1.0106	10	0.13853	T	0.58	.	5.0568	0.14537	0.6639:0.0:0.2126:0.1235	.	4909	Q96RW7	HMCN1_HUMAN	H	4909	ENSP00000271588:R4909H;ENSP00000356462:R4909H	ENSP00000271588:R4909H	R	+	2	0	HMCN1	184387072	1.000000	0.71417	0.714000	0.30535	0.586000	0.36452	3.507000	0.53371	-0.275000	0.09219	-1.311000	0.01308	CGT		0.318	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		89	248	0	0	0	1	0	89	248					A	186120449	G	A	186120449	3	1	105	1	0	0	0	0	1	0	0	0	7250	1145	40	1	15100	1	HMCN1	1	186120449	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3550874	186120449	63130172	22	35512											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	8	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567																																						ENST00000308302.3																			1	Substitution - coding silent(1)	p.R62R(1)	urinary_tract(1)	kidney(1)|lung(2)|urinary_tract(1)	4						c.(184-186)cgG>cgA		golgi transport 1A							140	147	145					1																	204170871		2203	4300	6503	SO:0001819	synonymous_variant	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170871C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"golgi transport 1 homolog A (S. cerevisiae)"			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.186G>A	1.37:g.204170871C>T							p.R62R	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	371	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		62						Silent	SNP	ENST00000308302.3	37	c.186G>A	CCDS1443.1																																																																																				0.567	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		6	591	0	0	0	1	0	6	591					T	204170871	C	T	204170871	2	4	105	1	0	0	0	0	0	0	0	1	6599	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	18050422	204170871	45079750	23	35513											
CR1	1378	broad.mit.edu	37	chr1	207790017	207790017	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaatatcttacgcatgCgacacccacccagacagagg	8	12	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1803					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6757-6759)tgC>tgT		complement component (3b/4b) receptor 1 (Knops blood group)							142	137	139					1																	207790017		1924	4129	6053	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207790017C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6759C>T	1.37:g.207790017C>T						CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C	p.C2253C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			41	6759	+			1803					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.6759C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342195	0.01277	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.15	-1.35	0.09114	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.0389	0.30511	0.0:0.5164:0.0:0.4836	rs55775404	.	.	.	V	426	.	.	A	+	2	0	CR1	205856640	0.319000	0.24607	0.014000	0.15608	0.037000	0.13140	-0.190000	0.09615	-0.233000	0.09797	-0.320000	0.08662	GCG		0.498	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		6	684	0	0	0	1	0	6	684					T	207790017	C	T	207790017	2	4	105	1	0	0	0	0	0	0	0	1	3849	776	27	1		1	CR1	1	207790017	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3619146	207790017	41460604	24	35514											
ARF1	375	broad.mit.edu	37	chr1	228285699	228285699	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gactggctgtccaatcagctCcggaaccagaagtgaacgcg	12	12	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr1:228285699C>T	ENST00000541182.1	+	5	793	c.531C>T	c.(529-531)ctC>ctT	p.L177L	ARF1_ENST00000272102.5_Silent_p.L177L|ARF1_ENST00000540651.1_Silent_p.L177L|MIR3620_ENST00000584469.1_RNA|C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000478424.1_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	177					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCAATCAGCTCCGGAACCAGA	0.602																																						ENST00000541182.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10						c.(529-531)ctC>ctT		ADP-ribosylation factor 1							70	60	63					1																	228285699		2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285699C>T	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.531C>T	1.37:g.228285699C>T						ARF1_ENST00000540651.1_Silent_p.L177L|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Silent_p.L177L	p.L177L	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN			5	793	+		Prostate(94;0.0405)	177					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.531C>T	CCDS1565.1																																																																																				0.602	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		22	256	0	0	0	1	0	22	256					T	228285699	C	T	228285699	2	4	105	1	0	0	0	0	0	0	0	1	844	842	30	2		2	ARF1	1	228285699	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	20495682	228285699	20964922	25	35515											
MYT1L	23040	broad.mit.edu	37	chr2	1982980	1982980	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgacatgaccactgccgtCacagccaggggtgggacagc	13	13	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:1982980C>T	ENST00000399161.2	-	8	856	c.109G>A	c.(109-111)Gac>Aac	p.D37N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					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)		CCACTGCCGTCACAGCCAGGG	0.512																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(109-111)Gac>Aac		myelin transcription factor 1-like							37	40	39					2																	1982980		2196	4297	6493	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1982980C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.109G>A	2.37:g.1982980C>T	ENSP00000382114:p.Asp37Asn					MYT1L_ENST00000428368.2_Missense_Mutation_p.D37N	p.D37N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	8	856	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	37					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935617	0.73442	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.138574	0.46442	D	0.000293	T	0.52517	0.1739	N	0.24115	0.695	0.58432	D	0.999996	D;D	0.69078	0.997;0.996	D;D	0.77004	0.989;0.981	T	0.55749	-0.8092	10	0.51188	T	0.08	-38.9835	18.6852	0.91560	0.0:1.0:0.0:0.0	.	37;37	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	N	37	ENSP00000382114:D37N;ENSP00000396103:D37N	ENSP00000295067:D37N	D	-	1	0	MYT1L	1961987	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.604000	0.74150	2.405000	0.81733	0.655000	0.94253	GAC		0.512	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		31	59	0	0	0	1	0	31	59					T	1982980	C	T	1982980	3	4	105	1	0	0	0	0	1	0	0	0	10148	826	29	2	3517	2	MYT1L	2	1982980	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		1982980	241216393	26	35516											
CGREF1	10669	broad.mit.edu	37	chr2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gggcccgggggcatctccttCagcctctgcctggcccccag	13	18	3	0	rs113949888		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:27324303C>T	ENST00000260595.5	-	7	1037	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402394.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000402550.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	249				E -> K (in Ref. 1; AAC50896). {ECO:0000305}.	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)					GCATCTCCTTCAGCCTCTGCC	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		8068	0.001		0.0	False		,,,				2504	0.0					ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(796-798)Gaa>Aaa		cell growth regulator with EF-hand domain 1							56	67	63					2																	27324303		1757	3436	5193	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324303C>T	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.745G>A	2.37:g.27324303C>T	ENSP00000260595:p.Glu249Lys					CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K	p.E266K	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1064	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	c	12.37	1.918380	0.33908	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.80909	-1.34;-1.34;-1.34;-1.33;-1.43	4.28	3.36	0.38483	.	0.000000	0.30575	U	0.009325	T	0.77301	0.4110	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68191	-0.5474	7	0.35671	T	0.21	-16.1548	11.3197	0.49415	0.1819:0.818:0.0:0.0	.	.	.	.	K	266;266;249;266;388;249	ENSP00000385452:E266K;ENSP00000386113:E266K;ENSP00000324025:E266K;ENSP00000385574:E388K;ENSP00000260595:E249K	ENSP00000260595:E249K	E	-	1	0	CGREF1	27177807	0.205000	0.23458	0.055000	0.19348	0.439000	0.31926	2.745000	0.47459	1.969000	0.57287	0.549000	0.68633	GAA		0.687	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		8	651	0	0	0	1	0	8	651					T	27324303	C	T	27324303	3	4	105	1	0	0	0	0	1	0	0	0	3314	835	29	2	356	2	CGREF1	2	27324303	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	25341323	27324303	215875070	27	35517											
CGREF1	10669	broad.mit.edu	37	chr2	27324320	27324320	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcagcctctgcctggcccCcagcttcccctctgggcccg	9	21	3	0	rs111421729		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:27324320C>T	ENST00000260595.5	-	7	1028				CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E|CGREF1_ENST00000402394.1_Missense_Mutation_p.G260E|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E|CGREF1_ENST00000402550.1_Intron			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGGCCCCCAGCTTCCCC	0.692																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(778-780)gGg>gAg		cell growth regulator with EF-hand domain 1							25	28	27					2																	27324320		1717	3379	5096	SO:0001627	intron_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324320C>T	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.736-8G>A	2.37:g.27324320C>T						CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.G382E|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G260E|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000312734.4_Missense_Mutation_p.G260E	p.G260E	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1047	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		258					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.779G>A		.	.	.	.	.	.	.	.	.	.	c	11.11	1.543013	0.27563	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694	T;T;T;T	0.78364	-1.09;-1.09;-1.09;-1.17	3.59	1.7	0.24286	.	.	.	.	.	T	0.74283	0.3696	.	.	.	0.09310	N	0.999999	D;D	0.54047	0.964;0.964	P;B	0.46585	0.521;0.443	T	0.64037	-0.6501	8	0.87932	D	0	-13.6597	7.6551	0.28371	0.1863:0.6333:0.1804:0.0	.	382;260	B5MCC9;Q99674	.;CGRE1_HUMAN	E	260;260;243;260;382	ENSP00000385452:G260E;ENSP00000386113:G260E;ENSP00000324025:G260E;ENSP00000385574:G382E	ENSP00000324025:G260E	G	-	2	0	CGREF1	27177824	0.004000	0.15560	0.031000	0.17742	0.023000	0.10783	0.375000	0.20518	0.218000	0.20820	-0.306000	0.09157	GGG		0.692	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		8	483	0	0	0	1	0	8	483					T	27324320	C	T	27324320	1	4	105	0	1	0	0	0	0	0	0	0	3314	623	22	2		2	CGREF1	2	27324320	Intron	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	17	27324320	215875053	28	35518											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		8	622						8	622	---	---	---	---	-	64778674	GAT	-	64778672	7	5	105	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-OE-A75W-01A-12D-A32N-08	37454352	64778672	178420701	29	35519											
LRRTM1	347730	broad.mit.edu	37	chr2	80529763	80529763	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcccctccccgccgtccgcGagcgtggtggccgagctggc	15	18	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:80529763G>A	ENST00000295057.3	-	2	1838	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L394L|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	394					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						CGCCGTCCGCGAGCGTGGTGG	0.716										HNSCC(69;0.2)																												ENST00000295057.3																			0				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						c.(1180-1182)ctC>ctT		leucine rich repeat transmembrane neuronal 1							18	20	19					2																	80529763		2186	4273	6459	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529763G>A	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.1182C>T	2.37:g.80529763G>A		HNSCC(69;0.2)				CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L394L|CTNNA2_ENST00000540488.1_Intron	p.L394L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1838	-			394					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.1182C>T	CCDS1966.1																																																																																				0.716	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		7	224	0	0	0	1	0	7	224					A	80529763	G	A	80529763	2	1	105	1	0	0	0	0	0	0	0	1	9077	1045	37	1		1	LRRTM1	2	80529763	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	15751091	80529763	162669610	30	35520											
VPS24	51652	broad.mit.edu	37	chr2	86732976	86732978	+	In_Frame_Del	DEL	TCC	TCC	-													gcatggcctccagagcctctTcctcctcctcctcatcctct							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:86732976_86732978delTCC	ENST00000263856.4	-	6	746_748	c.618_620delGGA	c.(616-621)gaggaa>gaa	p.206_207EE>E	CHMP3_ENST00000409225.2_In_Frame_Del_p.140_141EE>E|CHMP3_ENST00000439940.2_In_Frame_Del_p.235_236EE>E|CHMP3_ENST00000409727.1_In_Frame_Del_p.166_167EE>E|CHMP3_ENST00000494623.1_5'Flank|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.235_236EE>E	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	206	Interaction with STAMBP.|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)											CAGAGCCTCTTCCTCCTCCTCCT	0.616																																						ENST00000263856.4																			0											c.(616-621)gaa>ga		charged multivesicular body protein 3																																				SO:0001651	inframe_deletion	51652							g.chr2:86732976_86732978delTCC	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.618_620delGGA	2.37:g.86732985_86732987delTCC	ENSP00000263856:p.Glu208del					CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del|CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del	p.EE206del	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					6	746_748	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	In_Frame_Del	DEL	ENST00000263856.4	37	c.618_620delGGA	CCDS33236.1																																																																																				0.616	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		7	393						7	393	---	---	---	---	-	86732978	TCC	-	86732976	7	5	105	1	0	1	0	1	0	0	0	0	17249	1783	62	0	52	0	VPS24	2	86732976	In_Frame_Del	DEL	TCC	TCGA-OE-A75W-01A-12D-A32N-08	6203213	86732976	156466397	31	35521											
NCAPH	23397	broad.mit.edu	37	chr2	97007560	97007560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaggagcggctgcagcGgaggcgctcgagggtctttg	19	8	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:97007560G>A	ENST00000240423.4	+	2	243	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000455200.1_Missense_Mutation_p.R56Q	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	67					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)				CGGCTGCAGCGGAGGCGCTCG	0.592																																						ENST00000455200.1																			0				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						c.(166-168)cGg>cAg		non-SMC condensin I complex, subunit H							75	82	79					2																	97007560		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97007560G>A	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.200G>A	2.37:g.97007560G>A	ENSP00000240423:p.Arg67Gln					NCAPH_ENST00000240423.4_Missense_Mutation_p.R67Q|NCAPH_ENST00000427946.1_Intron	p.R56Q			Q15003	CND2_HUMAN			2	462	+		Ovarian(717;0.0221)	67					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.167G>A	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639751	0.87760	.	.	ENSG00000121152	ENST00000240423;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.66	4.78	0.61160	.	0.106857	0.64402	N	0.000006	T	0.71467	0.3343	M	0.80183	2.485	0.48975	D	0.999732	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	0.74595	-0.3613	10	0.66056	D	0.02	-21.3725	10.5775	0.45235	0.0891:0.0:0.9109:0.0	.	43;56;56;67	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Q	67;56;67;56	ENSP00000240423:R67Q;ENSP00000405237:R56Q;ENSP00000401227:R67Q;ENSP00000407308:R56Q	ENSP00000240423:R67Q	R	+	2	0	NCAPH	96371287	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	8.515000	0.90548	1.400000	0.46741	0.650000	0.86243	CGG		0.592	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		155	522	0	0	0	1	0	155	522					A	97007560	G	A	97007560	3	1	105	1	0	0	0	0	1	0	0	0	10251	1116	39	1	206	1	NCAPH	2	97007560	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	10274584	97007560	146191813	32	35522											
LRP1B	53353	broad.mit.edu	37	chr2	141299402	141299402	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattggctgatgtggaatatCggaacgaagaatttttgtat	11	4	0	2	rs201587960		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:141299402C>T	ENST00000389484.3	-	44	8304	c.7333G>A	c.(7333-7335)Gat>Aat	p.D2445N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2445					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)		TGTGGAATATCGGAACGAAGA	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7333-7335)Gat>Aat		low density lipoprotein receptor-related protein 1B							168	157	161					2																	141299402		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141299402C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7333G>A	2.37:g.141299402C>T	ENSP00000374135:p.Asp2445Asn	TSP Lung(27;0.18)					p.D2445N	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	44	8304	-		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)	2445					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7333G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389777	0.95988	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91180	-2.8	5.45	5.45	0.79879	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.91788	0.7402	L	0.33668	1.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.64506	0.926	D	0.88927	0.3370	10	0.18276	T	0.48	.	19.2763	0.94032	0.0:1.0:0.0:0.0	.	2445	Q9NZR2	LRP1B_HUMAN	N	2445;2383	ENSP00000374135:D2445N	ENSP00000374135:D2445N	D	-	1	0	LRP1B	141015872	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.771000	0.85420	2.548000	0.85928	0.484000	0.47621	GAT		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	598	0	0	0	1	0	6	598					T	141299402	C	T	141299402	3	4	105	1	0	0	0	0	1	0	0	0	8993	884	31	1	6658	1	LRP1B	2	141299402	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	44291842	141299402	101899971	33	35523											
SCN3A	6328	broad.mit.edu	37	chr2	165997338	165997338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgctctccatgtctgtgCggcacaaacagtgagtctct	10	13	3	1	rs370922010		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:165997338C>T	ENST00000360093.3	-	13	2333	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	SCN3A_ENST00000409101.3_Silent_p.P614P|SCN3A_ENST00000283254.7_Silent_p.P614P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614					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)	CATGTCTGTGCGGCACAAACA	0.507																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1840-1842)ccG>ccA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)	C	,,	0,4406		0,0,2203	230	167	188		1842,1842,1842	-12.1	0	2		188	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN3A	NM_001081676.1,NM_001081677.1,NM_006922.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	614/1952,614/1952,614/2001	165997338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997338C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1842G>A	2.37:g.165997338C>T						SCN3A_ENST00000409101.3_Silent_p.P614P|SCN3A_ENST00000283254.7_Silent_p.P614P	p.P614P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			13	2333	-			614					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.1842G>A																																																																																					0.507	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	244	0	0	0	1	0	6	244					T	165997338	C	T	165997338	2	4	105	1	0	0	0	0	0	0	0	1	13968	755	27	1		1	SCN3A	2	165997338	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	24697936	165997338	77202035	34	35524											
NOSTRIN	115677	broad.mit.edu	37	chr2	169716142	169716142	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	attccatcttcaggtggaggGaaaaggtaacatttaaggag	12	5	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:169716142G>C	ENST00000317647.7	+	13	1403	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q	NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	392					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGTGGAGGGAAAAGGTAAC	0.438																																						ENST00000444448.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(1345-1347)Gaa>Caa		nitric oxide synthase trafficking							125	119	121					2																	169716142		1914	4130	6044	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169716142G>C	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"nitric oxide synthase trafficker"			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1174G>C	2.37:g.169716142G>C	ENSP00000318921:p.Glu392Gln					NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E392Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E449Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E314Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E364Q|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E314Q	p.E449Q			Q8IVI9	NOSTN_HUMAN			16	1821	+			392			SH3.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.1345G>C	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127768	0.77549	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.38560	1.3;1.3;1.13;1.32;1.32;1.33;1.33	5.3	5.3	0.74995	.	0.162747	0.53938	D	0.000056	T	0.59649	0.2209	M	0.75447	2.3	0.80722	D	1	D;D;D;D;D;D	0.64830	0.98;0.991;0.994;0.994;0.969;0.987	P;P;P;P;P;P	0.58331	0.663;0.837;0.798;0.783;0.599;0.776	T	0.56275	-0.8006	10	0.28530	T	0.3	-0.2101	16.7834	0.85568	0.0:0.0:1.0:0.0	.	364;314;449;286;392;449	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	Q	449;449;392;314;314;364;364	ENSP00000402140:E449Q;ENSP00000394051:E449Q;ENSP00000318921:E392Q;ENSP00000404413:E314Q;ENSP00000380390:E314Q;ENSP00000380392:E364Q;ENSP00000401316:E364Q	ENSP00000318921:E392Q	E	+	1	0	NOSTRIN	169424388	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	6.770000	0.74990	2.630000	0.89119	0.655000	0.94253	GAA		0.438	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		6	520	0	0	0	1	0	6	520					C	169716142	G	C	169716142	3	2	105	1	0	0	0	0	1	0	0	0	10588	1175	41	5	1399	5	NOSTRIN	2	169716142	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3718804	169716142	73483231	35	35525											
TTN	7273	broad.mit.edu	37	chr2	179412983	179412983	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcggaggatttgctagtatCaacaacatcaagtctcctag	9	9	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179412983C>T	ENST00000591111.1	-	289	88671	c.88447G>A	c.(88447-88449)Gat>Aat	p.D29483N	TTN_ENST00000342992.6_Missense_Mutation_p.D28556N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D31124N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29483	Fibronectin type-III 115. {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)			TTGCTAGTATCAACAACATCA	0.483																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93370-93372)Gat>Aat		titin							166	165	165					2																	179412983		2042	4196	6238	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412983C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88447G>A	2.37:g.179412983C>T	ENSP00000465570:p.Asp29483Asn					TTN_ENST00000342175.6_Missense_Mutation_p.D22251N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D29483N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D22059N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D22184N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28556N	p.D31124N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93594	-			29483		A -> G.	Ig-like 139.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93370G>A		.	.	.	.	.	.	.	.	.	.	C	19.66	3.869050	0.72065	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69860	0.3158	L	0.50919	1.6	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	0.71144	-0.4678	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	22059;22184;22251;29483	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	28556;22059;22251;22184;22056	ENSP00000343764:D28556N;ENSP00000434586:D22059N;ENSP00000340554:D22251N;ENSP00000352154:D22184N	ENSP00000340554:D22251N	D	-	1	0	TTN	179121229	1.000000	0.71417	0.980000	0.43619	0.745000	0.42441	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GAT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	651	0	0	0	1	0	13	651					T	179412983	C	T	179412983	3	4	105	1	0	0	0	0	1	0	0	0	16789	826	29	2	14705	2	TTN	2	179412983	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9696841	179412983	63786390	36	35526											
TTN	7273	broad.mit.edu	37	chr2	179597812	179597812	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taacaacactatccacgttgCgcaagggtttggtaaaaaat	8	8	0	0	rs200941841		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179597812C>T	ENST00000591111.1	-	53	15364	c.15140G>A	c.(15139-15141)cGc>cAc	p.R5047H	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R5364H|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12420	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)			ATCCACGTTGCGCAAGGGTTT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(16090-16092)cGc>cAc		titin		C	HIS/ARG,,,	1,3881		0,1,1940	60	57	58		12359,,,	5.3	1	2		58	0,8284		0,0,4142	yes	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,1,6082	TT,TC,CC		0.0,0.0258,0.0082	probably-damaging,,,	4120/33424,,,	179597812	1,12165	1941	4142	6083	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597812C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15140G>A	2.37:g.179597812C>T	ENSP00000465570:p.Arg5047His					TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R5047H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4120H|TTN-AS1_ENST00000582847.1_RNA	p.R5364H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		55	16315	-			5047			Ig-like 34.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.16091G>A		.	.	.	.	.	.	.	.	.	.	C	10.90	1.480091	0.26598	2.58E-4	0.0	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	6.17	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71576	0.3356	M	0.75884	2.315	0.80722	D	1	D	0.57571	0.98	P	0.48921	0.595	T	0.75557	-0.3276	9	0.87932	D	0	.	12.1123	0.53846	0.0:0.8742:0.0:0.1258	.	5047	Q8WZ42	TITIN_HUMAN	H	4120	ENSP00000343764:R4120H	ENSP00000343764:R4120H	R	-	2	0	TTN	179306057	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.216000	0.51176	2.941000	0.99782	0.655000	0.94253	CGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	96	0	0	0	1	0	28	96					T	179597812	C	T	179597812	3	4	105	1	0	0	0	0	1	0	0	0	16789	768	27	1	88670	1	TTN	2	179597812	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	184829	179597812	63601561	37	35527											
TTN	7273	broad.mit.edu	37	chr2	179641336	179641336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acccaaattcattgatcataCggagcctgttggctgcttca	8	11	3	1	rs150737838		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:179641336C>T	ENST00000591111.1	-	28	5479	c.5255G>A	c.(5254-5256)cGt>cAt	p.R1752H	TTN_ENST00000342992.6_Missense_Mutation_p.R1752H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R1752H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H|TTN_ENST00000342175.6_Missense_Mutation_p.R1706H			Q8WZ42	TITIN_HUMAN	titin	12584	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGATCATACGGAGCCTGTT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		19405	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5254-5256)cGt>cAt		titin							69	62	64					2																	179641336		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179641336C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5255G>A	2.37:g.179641336C>T	ENSP00000465570:p.Arg1752His					TTN_ENST00000342175.6_Missense_Mutation_p.R1706H|TTN_ENST00000360870.5_Missense_Mutation_p.R1752H|TTN_ENST00000591111.1_Missense_Mutation_p.R1752H|TTN_ENST00000460472.2_Missense_Mutation_p.R1706H|TTN_ENST00000359218.5_Missense_Mutation_p.R1706H|TTN_ENST00000342992.6_Missense_Mutation_p.R1752H	p.R1752H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5479	-			1505			Ig-like 8.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5255G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.20	2.166946	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76877	0.4049	L	0.41079	1.255	0.38775	D	0.954622	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	0.80984	-0.1138	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1706;1706;1706;1752;1752	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1752;1706;1706;1706;1706;1752	ENSP00000343764:R1752H;ENSP00000434586:R1706H;ENSP00000340554:R1706H;ENSP00000352154:R1706H;ENSP00000354117:R1752H	ENSP00000340554:R1706H	R	-	2	0	TTN	179349581	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	4.864000	0.62990	2.363000	0.80096	0.561000	0.74099	CGT		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		92	183	0	0	0	1	0	92	183					T	179641336	C	T	179641336	3	4	105	1	0	0	0	0	1	0	0	0	16789	536	19	1	106073	1	TTN	2	179641336	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	43524	179641336	63558037	38	35528											
NDUFB3	4709	broad.mit.edu	37	chr2	201943722	201943722	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaagctggctgcaaaAgggctaagggatccatgggg	16	7	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:201943722A>G	ENST00000237889.4	+	2	440	c.117A>G	c.(115-117)aaA>aaG	p.K39K	NDUFB3_ENST00000454214.1_Silent_p.K39K|NDUFB3_ENST00000433898.1_Silent_p.K39K|RNU6-1206P_ENST00000516339.1_RNA	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	39					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)|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(1)|urinary_tract(1)	3						TGGCTGCAAAAGGGCTAAGGG	0.393																																						ENST00000237889.4																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(115-117)aaA>aaG		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	NADH(DB00157)						75	77	76					2																	201943722		2203	4300	6503	SO:0001819	synonymous_variant	4709				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr2:201943722A>G	AF047183	CCDS2336.1	2q33.1	2011-07-04	2002-08-29		ENSG00000119013	ENSG00000119013		"Mitochondrial respiratory chain complex / Complex I"	7698	protein-coding gene	gene with protein product	"complex I B12 subunit"	603839	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)"			9425316, 11474204	Standard	NM_002491		Approved	B12	uc002uwx.4	O43676	OTTHUMG00000132820	ENST00000237889.4:c.117A>G	2.37:g.201943722A>G						NDUFB3_ENST00000433898.1_Silent_p.K39K|NDUFB3_ENST00000454214.1_Silent_p.K39K	p.K39K	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN			2	440	+			39					Q6IB80	Silent	SNP	ENST00000237889.4	37	c.117A>G	CCDS2336.1																																																																																				0.393	NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256277.1	NM_002491		4	213	0	0	0	1	0	4	213					G	201943722	A	G	201943722	2	3	105	1	0	0	0	0	0	0	0	1	10324	69	3	4		4	NDUFB3	2	201943722	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	22302386	201943722	41255651	39	35529											
NRP2	8828	broad.mit.edu	37	chr2	206581077	206581077	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agggggcaggcttctctctgCgctacgagatcttcaagaca	12	11	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:206581077C>T	ENST00000357785.5	+	3	443	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	NRP2_ENST00000417189.1_Missense_Mutation_p.R138C|NRP2_ENST00000360409.3_Missense_Mutation_p.R138C|NRP2_ENST00000412873.2_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000272849.3_Missense_Mutation_p.R138C|NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C			Q99435	NELL2_HUMAN	neuropilin 2	0	Laminin G-like.					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						CTTCTCTCTGCGCTACGAGAT	0.617																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(412-414)Cgc>Tgc		neuropilin 2							72	72	72					2																	206581077		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206581077C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.412C>T	2.37:g.206581077C>T	ENSP00000350432:p.Arg138Cys					NRP2_ENST00000272849.3_Missense_Mutation_p.R138C|NRP2_ENST00000357785.5_Missense_Mutation_p.R138C|NRP2_ENST00000540841.1_Missense_Mutation_p.R138C|NRP2_ENST00000540178.1_Missense_Mutation_p.R138C|NRP2_ENST00000355117.4_Missense_Mutation_p.R138C|NRP2_ENST00000412873.2_Missense_Mutation_p.R138C|NRP2_ENST00000357118.4_Missense_Mutation_p.R138C|NRP2_ENST00000417189.1_Missense_Mutation_p.R138C	p.R138C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			3	1203	+			138			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.412C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331934	0.95733	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	6.17	6.17	0.99709	CUB (5);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;P;D;D;D	0.79108	0.983;0.983;0.9;0.992;0.992;0.971	T	0.65187	-0.6229	10	0.87932	D	0	-22.1386	20.8794	0.99867	0.0:1.0:0.0:0.0	.	138;138;138;138;138;138	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	138	ENSP00000353582:R138C;ENSP00000439658:R138C;ENSP00000439261:R138C;ENSP00000347238:R138C;ENSP00000387519:R138C;ENSP00000349632:R138C;ENSP00000350432:R138C;ENSP00000407626:R138C;ENSP00000272849:R138C	ENSP00000272849:R138C	R	+	1	0	NRP2	206289322	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.617	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			6	519	0	0	0	1	0	6	519					T	206581077	C	T	206581077	3	4	105	1	0	0	0	0	1	0	0	0	10703	768	27	1	422	1	NRP2	2	206581077	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4637355	206581077	36618296	40	35530											
CXCR1	3577	broad.mit.edu	37	chr2	219029099	219029099	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggccgatgttgttgcggCgctcacagctctcctggatc	12	15	2	0	rs56030518	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:219029099C>T	ENST00000295683.2	-	2	956	c.836G>A	c.(835-837)cGc>cAc	p.R279H		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	279					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GTTGTTGCGGCGCTCACAGCT	0.572													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19230	0.0		0.001	False		,,,				2504	0.0					ENST00000295683.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(835-837)cGc>cAc		chemokine (C-X-C motif) receptor 1		C	HIS/ARG	0,4406		0,0,2203	76	74	75		836	3.9	1	2	dbSNP_129	75	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CXCR1	NM_000634.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	279/351	219029099	3,13003	2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029099C>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.836G>A	2.37:g.219029099C>T	ENSP00000295683:p.Arg279His						p.R279H	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	956	-			279					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.836G>A	CCDS2409.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	15.25	2.778988	0.49891	0.0	3.49E-4	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.71934	-0.61	4.89	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.392430	0.28482	N	0.015186	T	0.65923	0.2738	M	0.62154	1.92	0.31690	N	0.641996	P	0.40083	0.702	B	0.37780	0.258	T	0.72276	-0.4341	10	0.33940	T	0.23	.	13.1692	0.59589	0.1603:0.8397:0.0:0.0	rs56030518	279	P25024	CXCR1_HUMAN	H	279;223	ENSP00000295683:R279H	ENSP00000295683:R279H	R	-	2	0	CXCR1	218737344	0.005000	0.15991	0.967000	0.41034	0.149000	0.21700	1.489000	0.35562	2.406000	0.81754	0.561000	0.74099	CGC		0.572	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		116	310	0	0	0	1	0	116	310					T	219029099	C	T	219029099	3	4	105	1	0	0	0	0	1	0	0	0	4101	768	27	1	220	1	CXCR1	2	219029099	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	12448022	219029099	24170274	41	35531											
ANKMY1	51281	broad.mit.edu	37	chr2	241496633	241496633	+	5'UTR	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gcgaagacagcgtagttcttCagggaccccggctcctcggc	13	14	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr2:241496633C>T	ENST00000391987.1	-	0	219				ANKMY1_ENST00000403283.1_Silent_p.L119L|ANKMY1_ENST00000406958.1_Silent_p.L40L|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000401804.1_Silent_p.L40L|ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000361678.4_Silent_p.L40L|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000373318.2_Silent_p.L40L|DUSP28_ENST00000343217.2_5'Flank	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								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)		CGTAGTTCTTCAGGGACCCCG	0.677											OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401804.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(118-120)ctG>ctA		ankyrin repeat and MYND domain containing 1							45	53	51					2																	241496633		2203	4298	6501	SO:0001623	5_prime_UTR_variant	51281						zinc ion binding	g.chr2:241496633C>T	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	ENST00000391987.1:c.-148G>A	2.37:g.241496633C>T			OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2427	ANKMY1_ENST00000403283.1_Silent_p.L119L|ANKMY1_ENST00000361678.4_Silent_p.L40L|ANKMY1_ENST00000373318.2_Silent_p.L40L|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Silent_p.L40L|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Silent_p.L40L|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000391987.1_5'UTR	p.L40L			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	2	258	-		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)	0					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000391987.1	37	c.120G>A	CCDS2536.1																																																																																				0.677	ANKMY1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017844		12	572	0	0	0	1	0	12	572					T	241496633	C	T	241496633	1	4	105	0	1	0	0	0	0	0	0	0	634	813	29	2		2	ANKMY1	2	241496633	5'UTR	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	22467534	241496633	1702740	42	35532											
CAND2	23066	broad.mit.edu	37	chr3	12858310	12858310	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcggaatgagatcaccCggctgcccgccatcaaggcg	13	15	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:12858310C>T	ENST00000456430.2	+	10	1920	c.1879C>T	c.(1879-1881)Cgg>Tgg	p.R627W	CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	627					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.R534W(1)		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						TGAGATCACCCGGCTGCCCGC	0.632																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			1	Substitution - Missense(1)	p.R534W(1)	large_intestine(1)	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						c.(1879-1881)Cgg>Tgg		cullin-associated and neddylation-dissociated 2 (putative)							67	76	73					3																	12858310		2100	4217	6317	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858310C>T		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.1879C>T	3.37:g.12858310C>T	ENSP00000387641:p.Arg627Trp					CAND2_ENST00000295989.5_Missense_Mutation_p.R534W	p.R627W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	1920	+			627					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1879C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386485	0.61956	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.71341	-0.56;-0.56	4.82	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.068282	0.56097	D	0.000033	D	0.87884	0.6290	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.91089	0.4905	10	0.87932	D	0	-35.2501	15.7833	0.78281	0.0:1.0:0.0:0.0	.	627;534	O75155;O75155-2	CAND2_HUMAN;.	W	534;627	ENSP00000295989:R534W;ENSP00000387641:R627W	ENSP00000295989:R534W	R	+	1	2	CAND2	12833310	0.317000	0.24589	1.000000	0.80357	0.837000	0.47467	0.913000	0.28611	2.395000	0.81488	0.561000	0.74099	CGG		0.632	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		12	709	0	0	0	1	0	12	709					T	12858310	C	T	12858310	3	4	105	1	0	0	0	0	1	0	0	0	2623	643	23	1	1917	1	CAND2	3	12858310	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		12858310	185164120	43	35533											
SCN5A	6331	broad.mit.edu	37	chr3	38592068	38592068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcggagaggccgctgcccGcctgctgacggaagaggaag	16	12	0	3	rs371194826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:38592068G>A	ENST00000333535.4	-	28	5944	c.5795C>T	c.(5794-5796)gCg>gTg	p.A1932V	SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A1932V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1899V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1932					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)	GCCGCTGCCCGCCTGCTGACG	0.622																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5794-5796)gCg>gTg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4127		0,1,2063	48	56	53		5792,5795,5741,5696,5633,5795	3.1	0.1	3		53	0,8370		0,0,4185	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	64,64,64,64,64,64	0,1,6248	AA,AG,GG		0.0,0.0242,0.0080	benign,benign,benign,benign,benign,benign	1931/2016,1932/2017,1914/1999,1899/1984,1878/1963,1932/2017	38592068	1,12497	2064	4185	6249	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592068G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5795C>T	3.37:g.38592068G>A	ENSP00000328968:p.Ala1932Val					SCN5A_ENST00000455624.2_Missense_Mutation_p.A1899V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1878V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1931V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1914V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A1931V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1914V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1932V	p.A1932V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5988	-	Medulloblastoma(35;0.163)		1932					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5795C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939513	0.02322	2.42E-4	0.0	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95949	-3.77;-3.8;-3.8;-3.81;-3.8;-3.77;-3.8;-3.86;-3.81;-3.81	4.86	3.08	0.35506	.	0.586375	0.16484	N	0.212412	D	0.90157	0.6924	N	0.20685	0.6	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.001;0.0;0.001;0.002;0.001	B;B;B;B;B;B	0.12156	0.001;0.001;0.002;0.002;0.007;0.004	T	0.82226	-0.0562	10	0.52906	T	0.07	.	10.9373	0.47253	0.1517:0.0:0.8483:0.0	.	1878;1899;1914;1932;1931;1932	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1914;1931;1932;1878;1931;1914;1932;1899;1878;1878	ENSP00000398962:A1914V;ENSP00000398266:A1931V;ENSP00000410257:A1932V;ENSP00000388797:A1878V;ENSP00000397915:A1931V;ENSP00000416634:A1914V;ENSP00000328968:A1932V;ENSP00000399524:A1899V;ENSP00000403355:A1878V;ENSP00000413996:A1878V	ENSP00000328968:A1932V	A	-	2	0	SCN5A	38567072	0.004000	0.15560	0.104000	0.21259	0.085000	0.17905	1.632000	0.37102	0.662000	0.31006	-0.218000	0.12543	GCG		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		22	185	0	0	0	1	0	22	185					A	38592068	G	A	38592068	3	1	105	1	0	0	0	0	1	0	0	0	13972	1087	38	1	259	1	SCN5A	3	38592068	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	25733758	38592068	159430362	44	35534											
LIMD1	8994	broad.mit.edu	37	chr3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-													agatggccaaaatccacctcCagcagcagcagcagcagctc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				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)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	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.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		9	258						9	258	---	---	---	---	-	45636545	CAG	-	45636543	7	5	105	1	0	1	0	1	0	0	0	0	8830	595	21	0	174	0	LIMD1	3	45636543	In_Frame_Del	DEL	CAG	TCGA-OE-A75W-01A-12D-A32N-08	7044475	45636543	152385887	45	35535											
FYCO1	79443	broad.mit.edu	37	chr3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctactcactgttcagccGcatttgggtcgagagaatca	9	12	4	1	rs140583635		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3934-3936)gCg>gTg		FYVE and coiled-coil domain containing 1		G	VAL/ALA	0,4406		0,0,2203	176	181	179		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:45996750G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val					FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V	p.A1312V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	14	4140	-			1312					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3935C>T	CCDS2734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		7	772	0	0	0	1	0	7	772					A	45996750	G	A	45996750	3	1	105	1	0	0	0	0	1	0	0	0	6152	1087	38	1	521	1	FYCO1	3	45996750	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	360207	45996750	152025680	46	35536											
NISCH	11188	broad.mit.edu	37	chr3	52523640	52523640	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcccgtcgctccggcacgtCgccagcctgcggggcagcgc	15	18	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:52523640C>T	ENST00000479054.1	+	18	3474	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V	NISCH_ENST00000345716.4_Silent_p.V1134V			Q9Y2I1	NISCH_HUMAN	nischarin	1134					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)	TCCGGCACGTCGCCAGCCTGC	0.672																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3400-3402)gtC>gtT		nischarin							52	56	55					3																	52523640		2203	4298	6501	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52523640C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3402C>T	3.37:g.52523640C>T						NISCH_ENST00000479054.1_Silent_p.V1134V	p.V1134V	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	17	3536	+			1134					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.3402C>T	CCDS33767.1																																																																																				0.672	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		70	451	0	0	0	1	0	70	451					T	52523640	C	T	52523640	2	4	105	1	0	0	0	0	0	0	0	1	10474	871	31	1		1	NISCH	3	52523640	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6526890	52523640	145498790	47	35537											
NSUN3	63899	broad.mit.edu	37	chr3	93783283	93783283	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tttttcttatcgtcatagctGaaagcaaaatcagaggggaa	9	6	3	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:93783283G>A	ENST00000314622.4	+	2	226	c.15G>A	c.(13-15)ctG>ctA	p.L5L	DHFRL1_ENST00000481631.1_5'Flank|NSUN3_ENST00000485793.1_3'UTR|DHFRL1_ENST00000394221.2_5'Flank|DHFRL1_ENST00000314636.2_5'Flank	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	5							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGTCATAGCTGAAAGCAAAAT	0.353																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(13-15)ctG>ctA		NOP2/Sun domain family, member 3							73	75	75					3																	93783283		2203	4300	6503	SO:0001819	synonymous_variant	63899						methyltransferase activity	g.chr3:93783283G>A	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.15G>A	3.37:g.93783283G>A						NSUN3_ENST00000485793.1_3'UTR	p.L5L	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN			2	226	+			5					Q6PG41|Q8IXG9|Q9H6M2	Silent	SNP	ENST00000314622.4	37	c.15G>A	CCDS2927.1																																																																																				0.353	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		7	186	0	0	0	1	0	7	186					A	93783283	G	A	93783283	2	1	105	1	0	0	0	0	0	0	0	1	10721	1277	45	2		2	NSUN3	3	93783283	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	41259643	93783283	104239147	48	35538											
GPR156	165829	broad.mit.edu	37	chr3	119886046	119886046	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagatttcacagtagggccGgtggcagcggcagaagaact	15	9	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:119886046G>A	ENST00000464295.1	-	10	2723	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	GPR156_ENST00000315843.3_Missense_Mutation_p.R760W|GPR156_ENST00000461057.1_Missense_Mutation_p.R756W			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	760						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)		CAGTAGGGCCGGTGGCAGCGG	0.572																																						ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(2278-2280)Cgg>Tgg		G protein-coupled receptor 156							92	105	100					3																	119886046		2203	4300	6503	SO:0001583	missense	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886046G>A	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.2278C>T	3.37:g.119886046G>A	ENSP00000417261:p.Arg760Trp					GPR156_ENST00000461057.1_Missense_Mutation_p.R756W|GPR156_ENST00000315843.3_Missense_Mutation_p.R760W	p.R760W			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2723	-			760					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	ENST00000464295.1	37	c.2278C>T	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874542	0.72180	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.63417	-0.04;-0.04;-0.0	4.97	2.03	0.26663	.	0.000000	0.64402	D	0.000008	T	0.67069	0.2854	L	0.34521	1.04	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62473	-0.6847	9	.	.	.	-23.5143	13.1849	0.59675	0.0:0.0:0.4344:0.5656	.	756;760	E9PFZ4;Q8NFN8	.;GP156_HUMAN	W	760;760;756	ENSP00000417261:R760W;ENSP00000324553:R760W;ENSP00000418758:R756W	.	R	-	1	2	GPR156	121368736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.382000	0.34374	0.318000	0.23185	0.561000	0.74099	CGG		0.572	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		7	820	0	0	0	1	0	7	820					A	119886046	G	A	119886046	3	1	105	1	0	0	0	0	1	0	0	0	6690	1115	39	1	170	1	GPR156	3	119886046	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	26102763	119886046	78136384	49	35539											
IQCB1	9657	broad.mit.edu	37	chr3	121489398	121489398	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gagctcaggttctttcccttCtgcctccttcagacttggtg	9	13	4	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:121489398C>T	ENST00000310864.6	-	15	1805	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	531					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCTTTCCCTTCTGCCTCCTTC	0.517																																						ENST00000310864.6																			0				NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30						c.(1591-1593)Gaa>Aaa		IQ motif containing B1							163	159	160					3																	121489398		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121489398C>T	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1591G>A	3.37:g.121489398C>T	ENSP00000311505:p.Glu531Lys					IQCB1_ENST00000349820.6_Missense_Mutation_p.E398K	p.E531K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	15	1805	-			531					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1591G>A	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312378	0.23908	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.78595	-1.19;-1.19	5.34	3.4	0.38934	.	0.261904	0.42420	N	0.000712	T	0.58308	0.2113	N	0.25647	0.755	0.28325	N	0.922048	B;P	0.36837	0.002;0.571	B;B	0.36608	0.003;0.229	T	0.51268	-0.8727	10	0.08381	T	0.77	-4.0249	6.4099	0.21686	0.0:0.782:0.0:0.218	.	531;398	Q15051;Q15051-2	IQCB1_HUMAN;.	K	531;398	ENSP00000311505:E531K;ENSP00000323756:E398K	ENSP00000311505:E531K	E	-	1	0	IQCB1	122972088	0.999000	0.42202	1.000000	0.80357	0.902000	0.53008	1.277000	0.33167	1.482000	0.48325	0.650000	0.86243	GAA		0.517	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	NM_014642		14	715	0	0	0	1	0	14	715					T	121489398	C	T	121489398	3	4	105	1	0	0	0	0	1	0	0	0	7833	922	32	2	209	2	IQCB1	3	121489398	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1603352	121489398	76533032	50	35540											
MUC13	56667	broad.mit.edu	37	chr3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acagccataataatcacaccGaagggtcactgagaagcaca	8	11	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	325	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.R324W(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATCACACCGAAGGGTCACT	0.423																																						ENST00000311075.3																			1	Substitution - Missense(1)	p.R324W(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(970-972)Cgg>Tgg		mucin 13, cell surface associated							72	68	69					3																	124632520		2203	4300	6503	SO:0001583	missense	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124632520G>A	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.970C>T	3.37:g.124632520G>A	ENSP00000312235:p.Arg324Trp						p.R324W	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN			7	1008	-			324			EGF-like 2.		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37	c.970C>T		.	.	.	.	.	.	.	.	.	.	G	11.76	1.733931	0.30684	.	.	ENSG00000173702	ENST00000311075	D	0.87491	-2.26	3.93	-4.04	0.04010	.	3.072470	0.01105	N	0.005470	D	0.89329	0.6684	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.79112	-0.1937	10	0.66056	D	0.02	0.2081	4.6867	0.12760	0.4045:0.0:0.3619:0.2336	.	324	Q9H3R2	MUC13_HUMAN	W	324	ENSP00000312235:R324W	ENSP00000312235:R324W	R	-	1	2	MUC13	126115210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.076000	0.11412	-1.421000	0.02007	-2.157000	0.00329	CGG		0.423	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		7	304	0	0	0	1	0	7	304					A	124632520	G	A	124632520	3	1	105	1	0	0	0	0	1	0	0	0	10012	1057	37	1	585	1	MUC13	3	124632520	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3143122	124632520	73389910	51	35541											
OSBPL11	114885	broad.mit.edu	37	chr3	125282595	125282595	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctgggactgccaccgGcttactctgatcagttgcaa	9	13	4	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:125282595G>A	ENST00000296220.5	-	7	1250	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	321					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ACTGCCACCGGCTTACTCTGA	0.408																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.(961-963)Ccg>Tcg		oxysterol binding protein-like 11							107	108	108					3																	125282595		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125282595G>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.961C>T	3.37:g.125282595G>A	ENSP00000296220:p.Pro321Ser						p.P321S	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			7	1250	-			321					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.961C>T	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	G	5.365	0.252644	0.10185	.	.	ENSG00000144909	ENST00000296220	T	0.17213	2.29	4.71	3.82	0.43975	.	0.578316	0.17514	N	0.171496	T	0.11750	0.0286	L	0.33485	1.01	0.39467	D	0.967668	B	0.10296	0.003	B	0.06405	0.002	T	0.06320	-1.0833	10	0.02654	T	1	-17.117	13.1274	0.59363	0.0:0.1607:0.8393:0.0	.	321	Q9BXB4	OSB11_HUMAN	S	321	ENSP00000296220:P321S	ENSP00000296220:P321S	P	-	1	0	OSBPL11	126765285	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	2.233000	0.43027	1.151000	0.42436	0.467000	0.42956	CCG		0.408	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776		5	403	0	0	0	1	0	5	403					A	125282595	G	A	125282595	3	1	105	1	0	0	0	0	1	0	0	0	11318	1203	42	2	1310	2	OSBPL11	3	125282595	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	650075	125282595	72739835	52	35542											
CEP63	80254	broad.mit.edu	37	chr3	134278028	134278028	+	Missense_Mutation	SNP	G	G	T													cacagacatgatggaataaaGactgagcactacaaaacaga							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278028G>T	ENST00000337090.3	+	14	1883	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	570					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGGAATAAAGACTGAGCACT	0.423																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1708-1710)aaG>aaT		centrosomal protein 63kDa							136	135	135					3																	134278028		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278028G>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1710G>T	3.37:g.134278028G>T	ENSP00000336524:p.Lys570Asn					CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K570N|CEP63_ENST00000513612.2_Missense_Mutation_p.K570N	p.K570N			Q96MT8	CEP63_HUMAN			14	1883	+			570					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1710G>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944889	0.34283	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18338	2.22;2.22	4.77	3.89	0.44902	.	0.724271	0.12624	N	0.452796	T	0.17238	0.0414	L	0.44542	1.39	0.32265	N	0.569604	P	0.44429	0.835	P	0.44990	0.466	T	0.02339	-1.1174	10	0.25751	T	0.34	-11.6316	8.2011	0.31426	0.1056:0.0:0.8944:0.0	.	570	Q96MT8	CEP63_HUMAN	N	570	ENSP00000336524:K570N;ENSP00000426129:K570N	ENSP00000336524:K570N	K	+	3	2	CEP63	135760718	1.000000	0.71417	0.880000	0.34516	0.885000	0.51271	1.319000	0.33655	2.611000	0.88343	0.650000	0.86243	AAG		0.423	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		166	396	1	0	9.53643e-70	1	1.02486e-69	166	396					T	134278028	G	T	134278028	3	4	105	1	0	0	0	0	1	0	0	0	3266	933	33	3	1760	3	CEP63	3	134278028	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	8995433	134278028	63744402	53	35543	222	2									
CEP63	80254	broad.mit.edu	37	chr3	134278030	134278030	+	Missense_Mutation	SNP	C	C	T													cagacatgatggaataaagaCtgagcactacaaaacagatc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:134278030C>T	ENST00000337090.3	+	14	1885	c.1712C>T	c.(1711-1713)aCt>aTt	p.T571I	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	571					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAATAAAGACTGAGCACTAC	0.428																																						ENST00000337090.3																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1711-1713)aCt>aTt		centrosomal protein 63kDa							138	137	137					3																	134278030		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134278030C>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1712C>T	3.37:g.134278030C>T	ENSP00000336524:p.Thr571Ile					CEP63_ENST00000383229.3_Intron|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.T571I|CEP63_ENST00000513612.2_Missense_Mutation_p.T571I	p.T571I			Q96MT8	CEP63_HUMAN			14	1885	+			571					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.1712C>T	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	C	5.920	0.353755	0.11182	.	.	ENSG00000182923	ENST00000337090;ENST00000513612	T;T	0.18174	2.23;2.23	4.77	2.93	0.34026	.	1.163120	0.06370	N	0.713479	T	0.16769	0.0403	L	0.47716	1.5	0.25605	N	0.986555	B	0.06786	0.001	B	0.09377	0.004	T	0.29549	-1.0008	10	0.35671	T	0.21	-0.0211	6.73	0.23379	0.0:0.7252:0.1782:0.0966	.	571	Q96MT8	CEP63_HUMAN	I	571	ENSP00000336524:T571I;ENSP00000426129:T571I	ENSP00000336524:T571I	T	+	2	0	CEP63	135760720	1.000000	0.71417	0.646000	0.29493	0.835000	0.47333	0.453000	0.21811	0.677000	0.31305	-0.143000	0.13931	ACT		0.428	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		168	402	0	0	0	1	0	168	402					T	134278030	C	T	134278030	3	4	105	1	0	0	0	0	1	0	0	0	3266	565	20	2	1762	2	CEP63	3	134278030	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2	134278030	63744400	54	35544	222	2									
SOX14	8403	broad.mit.edu	37	chr3	137483748	137483748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caactcggagatcagcaaacGcctaggtgccgaatggaagc	12	11	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:137483748G>A	ENST00000306087.1	+	1	170	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	41					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						ATCAGCAAACGCCTAGGTGCC	0.597																																						ENST00000306087.1																			0				large_intestine(2)|lung(12)	14						c.(121-123)cGc>cAc		SRY (sex determining region Y)-box 14							103	100	101					3																	137483748		2203	4300	6503	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483748G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.122G>A	3.37:g.137483748G>A	ENSP00000305343:p.Arg41His						p.R41H	NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN			1	170	+			41					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.122G>A	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711362	0.89112	.	.	ENSG00000168875	ENST00000306087	D	0.98060	-4.69	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	D	0.98343	0.9450	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.99338	1.0911	10	0.87932	D	0	.	18.2699	0.90064	0.0:0.0:1.0:0.0	.	41	O95416	SOX14_HUMAN	H	41	ENSP00000305343:R41H	ENSP00000305343:R41H	R	+	2	0	SOX14	138966438	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.597000	0.98273	2.653000	0.90120	0.511000	0.50034	CGC		0.597	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		15	208	0	0	0	1	0	15	208					A	137483748	G	A	137483748	3	1	105	1	0	0	0	0	1	0	0	0	14995	1087	38	1	124	1	SOX14	3	137483748	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3205718	137483748	60538682	55	35545											
SLC25A36	55186	broad.mit.edu	37	chr3	140692616	140692616	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttcgtaaagtgtatcagacaGatggactaaaaggattttat	9	4	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:140692616G>A	ENST00000324194.6	+	6	679	c.511G>A	c.(511-513)Gat>Aat	p.D171N	SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N|SLC25A36_ENST00000446041.2_Missense_Mutation_p.D171N|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	171					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATCAGACAGATGGACTAAA	0.353																																						ENST00000446041.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(511-513)Gat>Aat		solute carrier family 25 (pyrimidine nucleotide carrier ), member 36							71	71	71					3																	140692616		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692616G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.511G>A	3.37:g.140692616G>A	ENSP00000320688:p.Asp171Asn					SLC25A36_ENST00000324194.6_Missense_Mutation_p.D171N|SLC25A36_ENST00000453248.2_Missense_Mutation_p.D145N	p.D171N	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN			6	736	+			171					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.511G>A	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347924	0.82022	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	T;T;T	0.78816	-1.21;-1.21;-1.21	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.042314	0.85682	D	0.000000	D	0.83718	0.5315	L	0.46157	1.445	0.80722	D	1	B;B;D	0.55800	0.417;0.215;0.973	B;B;P	0.60117	0.213;0.135;0.869	D	0.84345	0.0529	10	0.87932	D	0	-25.1645	18.015	0.89236	0.0:0.0:1.0:0.0	.	145;171;171	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	N	171;171;145	ENSP00000401938:D171N;ENSP00000320688:D171N;ENSP00000391521:D145N	ENSP00000320688:D171N	D	+	1	0	SLC25A36	142175306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAT		0.353	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155		77	197	0	0	0	1	0	77	197					A	140692616	G	A	140692616	3	1	105	1	0	0	0	0	1	0	0	0	14550	942	33	2	533	2	SLC25A36	3	140692616	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3208868	140692616	57329814	56	35546											
P2RY1	5028	broad.mit.edu	37	chr3	152553971	152553971	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agaggttcatctttcatgtgAacctctatggcagcatcttg	9	9	5	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:152553971A>T	ENST00000305097.3	+	1	1236	c.400A>T	c.(400-402)Aac>Tac	p.N134Y		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	134					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTCATGTGAACCTCTATGG	0.507																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(400-402)Aac>Tac		purinergic receptor P2Y, G-protein coupled, 1							79	75	77					3																	152553971		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553971A>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.400A>T	3.37:g.152553971A>T	ENSP00000304767:p.Asn134Tyr						p.N134Y	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1236	+			134						Missense_Mutation	SNP	ENST00000305097.3	37	c.400A>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675868	0.88445	.	.	ENSG00000169860	ENST00000305097	T	0.38560	1.13	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79165	-0.1916	10	0.87932	D	0	.	15.2728	0.73717	1.0:0.0:0.0:0.0	.	134	P47900	P2RY1_HUMAN	Y	134	ENSP00000304767:N134Y	ENSP00000304767:N134Y	N	+	1	0	P2RY1	154036661	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.210000	0.95106	2.186000	0.69663	0.533000	0.62120	AAC		0.507	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	343	0	0	0	1	0	5	343					T	152553971	A	T	152553971	3	4	105	1	0	0	0	0	1	0	0	0	11388	246	9	5	402	5	P2RY1	3	152553971	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	11861355	152553971	45468459	57	35547											
DHX36	170506	broad.mit.edu	37	chr3	154042078	154042080	+	In_Frame_Del	DEL	CCG	CCG	-													tgccgcctcgaccaccccctCcgccgccgccgcctcctccg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:154042078_154042080delCCG	ENST00000496811.1	-	1	206_208	c.126_128delCGG	c.(124-129)ggcgga>gga	p.42_43GG>G	DHX36_ENST00000308361.6_In_Frame_Del_p.42_43GG>G|DHX36_ENST00000544526.1_In_Frame_Del_p.42_43GG>G|DHX36_ENST00000329463.5_In_Frame_Del_p.42_43GG>G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	42	Gly-rich.|RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.				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)			ACCACCCCCTCCGCCGCCGCCGC	0.7																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(124-129)gga>gg		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001651	inframe_deletion	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154042078_154042080delCCG	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.126_128delCGG	3.37:g.154042087_154042089delCCG	ENSP00000417078:p.Gly46del					DHX36_ENST00000544526.1_In_Frame_Del_p.GG44del|DHX36_ENST00000329463.5_In_Frame_Del_p.GG44del|DHX36_ENST00000308361.6_In_Frame_Del_p.GG44del	p.GG44del	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	206_208	-			44			Gly-rich.		B2RB00|Q70JU3|Q8IYE5|Q9P240	In_Frame_Del	DEL	ENST00000496811.1	37	c.126_128delCGG	CCDS3171.1																																																																																				0.7	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		10	432						10	432	---	---	---	---	-	154042080	CCG	-	154042078	7	5	105	1	0	1	0	1	0	0	0	0	4525	855	30	0	2998	0	DHX36	3	154042078	In_Frame_Del	DEL	CCG	TCGA-OE-A75W-01A-12D-A32N-08	1488107	154042078	43980352	58	35548											
MECOM	2122	broad.mit.edu	37	chr3	168845679	168845679	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cattccttacactcctggatCgtgtgtatctcttggagatc	8	11	1	1	rs150481592		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:168845679C>T	ENST00000464456.1	-	4	1419	c.219G>A	c.(217-219)acG>acA	p.T73T	MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000494292.1_Silent_p.T261T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000472280.1_Silent_p.T73T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000468789.1_Silent_p.T73T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTCCTGGATCGTGTGTATCT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20544	0.0		0.0	False		,,,				2504	0.0					ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(217-219)acG>acA		MDS1 and EVI1 complex locus		C	,,,,,,	4,4402	8.1+/-20.4	0,4,2199	176	165	169		411,219,219,219,219,783,219	-2.1	0	3	dbSNP_134	169	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	,,,,,,	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	,,,,,,	137/1117,73/1052,73/1044,73/1043,73/1052,261/1240,73/1052	168845679	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168845679C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.219G>A	3.37:g.168845679C>T						MECOM_ENST00000433243.2_Silent_p.T73T|MECOM_ENST00000264674.3_Silent_p.T137T|MECOM_ENST00000392736.3_Silent_p.T73T|MECOM_ENST00000460814.1_Silent_p.T73T|MECOM_ENST00000468789.1_Silent_p.T73T|MECOM_ENST00000494292.1_Silent_p.T261T|MECOM_ENST00000472280.1_Silent_p.T73T	p.T73T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			4	1419	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.219G>A	CCDS54669.1																																																																																				0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		203	535	0	0	0	1	0	203	535					T	168845679	C	T	168845679	2	4	105	1	0	0	0	0	0	0	0	1	9463	871	31	1		1	MECOM	3	168845679	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14803601	168845679	29176751	59	35549											
FXR1	8087	broad.mit.edu	37	chr3	180675681	180675681	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gtgtggttcgagtgagaattGaaggggacaatgaaaataaa	14	2	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:180675681G>C	ENST00000357559.4	+	10	1339	c.955G>C	c.(955-957)Gaa>Caa	p.E319Q	FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q|FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q|FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	319					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)			AGTGAGAATTGAAGGGGACAA	0.313																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(955-957)Gaa>Caa		fragile X mental retardation, autosomal homolog 1							105	114	111					3																	180675681		2203	4300	6503	SO:0001583	missense	0				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180675681G>C	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.955G>C	3.37:g.180675681G>C	ENSP00000350170:p.Glu319Gln					FXR1_ENST00000491062.1_Missense_Mutation_p.E270Q|FXR1_ENST00000305586.7_Missense_Mutation_p.E234Q|FXR1_ENST00000480918.1_Missense_Mutation_p.E306Q|FXR1_ENST00000468861.1_Missense_Mutation_p.E234Q|FXR1_ENST00000445140.2_Missense_Mutation_p.E319Q	p.E319Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		10	1339	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		319					A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	c.955G>C	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985897	0.93044	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.44	5.44	0.79542	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.974;0.99;0.993	T	0.66372	-0.5940	10	0.87932	D	0	-16.7507	19.6264	0.95679	0.0:0.0:1.0:0.0	.	306;270;234;234;319;319	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	Q	319;234;270;234;319;306	ENSP00000350170:E319Q;ENSP00000307633:E234Q;ENSP00000420643:E270Q;ENSP00000420515:E234Q;ENSP00000388828:E319Q;ENSP00000418097:E306Q	ENSP00000307633:E234Q	E	+	1	0	FXR1	182158375	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.813000	0.99286	2.717000	0.92951	0.655000	0.94253	GAA		0.313	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			6	291	0	0	0	1	0	6	291					C	180675681	G	C	180675681	3	2	105	1	0	0	0	0	1	0	0	0	6142	1291	45	5	993	5	FXR1	3	180675681	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11830002	180675681	17346749	60	35550											
EIF4G1	1981	broad.mit.edu	37	chr3	184038482	184038482	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagatcatgtctggggcccGcactgcctccacacccaccc	10	18	2	1	rs34838305	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:184038482G>A	ENST00000346169.2	+	8	873	c.602G>A	c.(601-603)cGc>cAc	p.R201H	EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R114H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R201H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	201					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGGGGCCCGCACTGCCTCC	0.547																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(601-603)cGc>cAc		eukaryotic translation initiation factor 4 gamma, 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	91	80	83		623,623,14,602,602,110,341	4.2	1	3	dbSNP_126	83	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	29,29,29,29,29,29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	208/1607,208/1607,5/1405,201/1601,201/1600,37/1436,114/1513	184038482	4,13002	2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184038482G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.602G>A	3.37:g.184038482G>A	ENSP00000316879:p.Arg201His					EIF4G1_ENST00000382330.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R5H|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R201H|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R37H|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R114H|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R208H|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R201H|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R37H|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R208H|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R161H|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R114H|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R5H	p.R201H	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		7	1016	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		201					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.602G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213090	0.79352	0.0	4.65E-4	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	1.11;1.11;1.11;0.19;1.11;1.11;1.11;1.11;3.39;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.95;3.37;0.07;3.31;-0.21;0.78;3.32	5.08	4.21	0.49690	.	0.062143	0.64402	N	0.000015	T	0.53626	0.1808	L	0.32530	0.975	0.53688	D	0.999978	B;B;B;B	0.19073	0.033;0.033;0.033;0.033	B;B;B;B	0.15052	0.012;0.012;0.012;0.007	T	0.47749	-0.9093	10	0.20519	T	0.43	-3.7867	13.5567	0.61763	0.0749:0.0:0.9251:0.0	rs34838305	208;201;201;208	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	H	201;161;114;5;201;208;208;142;37;208;114;201;201;208;151;161;37;37;5;5;5;5;5	ENSP00000316879:R201H;ENSP00000391935:R161H;ENSP00000376320:R114H;ENSP00000407244:R5H;ENSP00000391412:R201H;ENSP00000413159:R208H;ENSP00000371767:R208H;ENSP00000403269:R142H;ENSP00000317600:R37H;ENSP00000338020:R208H;ENSP00000407682:R114H;ENSP00000343450:R201H;ENSP00000323737:R201H;ENSP00000416255:R208H;ENSP00000415943:R151H;ENSP00000395974:R161H;ENSP00000398145:R37H;ENSP00000399858:R37H;ENSP00000411707:R5H;ENSP00000411826:R5H;ENSP00000409545:R5H;ENSP00000399969:R5H;ENSP00000404754:R5H	ENSP00000323737:R201H	R	+	2	0	EIF4G1	185521176	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.439000	0.80444	1.377000	0.46286	0.655000	0.94253	CGC		0.547	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		6	359	0	0	0	1	0	6	359					A	184038482	G	A	184038482	3	1	105	1	0	0	0	0	1	0	0	0	5054	1087	38	1	624	1	EIF4G1	3	184038482	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3362801	184038482	13983948	61	35551											
SENP5	205564	broad.mit.edu	37	chr3	196612958	196612958	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctaaagacccttcttgtcgGcatcagccgtactttccaga	7	14	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr3:196612958G>A	ENST00000323460.5	+	2	1155	c.906G>A	c.(904-906)cgG>cgA	p.R302R	SENP5_ENST00000445299.2_Silent_p.R302R|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	302					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTTCTTGTCGGCATCAGCCGT	0.532																																					Ovarian(47;891 1095 11174 13858 51271)	ENST00000323460.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32						c.(904-906)cgG>cgA		SUMO1/sentrin specific peptidase 5							89	85	86					3																	196612958		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612958G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.906G>A	3.37:g.196612958G>A						SENP5_ENST00000445299.2_Silent_p.R302R|SENP5_ENST00000419026.1_Intron	p.R302R	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1155	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		302					B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.906G>A	CCDS3322.1																																																																																				0.532	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		5	466	0	0	0	1	0	5	466					A	196612958	G	A	196612958	2	1	105	1	0	0	0	0	0	0	0	1	14099	1190	42	2		2	SENP5	3	196612958	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12574476	196612958	1409472	62	35552											
DGKQ	1609	broad.mit.edu	37	chr4	954958	954958	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccctgggcaatccggAttccggagcgcagcccaccc	12	16	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:954958A>G	ENST00000273814.3	-	22	2679	c.2606T>C	c.(2605-2607)aTc>aCc	p.I869T	DGKQ_ENST00000502309.1_5'Flank	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	869					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAATCCGGATTCCGGAGCG	0.726																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(2605-2607)aTc>aCc		diacylglycerol kinase, theta 110kDa							27	34	31					4																	954958		2193	4298	6491	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:954958A>G	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"diacylglycerol kinase, theta (110kD)"	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.2606T>C	4.37:g.954958A>G	ENSP00000273814:p.Ile869Thr						p.I869T	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		22	2679	-			869					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.2606T>C	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.63|17.63	3.437655|3.437655	0.62955|0.62955	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000273814;ENST00000515182|ENST00000509465	T;T|.	0.47177|.	0.85;0.85|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Diacylglycerol kinase, accessory domain (2);|.	0.049071|.	0.85682|.	D|.	0.000000|.	T|T	0.57681|0.57681	0.2070|0.2070	L|L	0.39633|0.39633	1.23|1.23	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.77557|.	0.967;0.99|.	T|T	0.55062|0.55062	-0.8199|-0.8199	10|5	0.44086|.	T|.	0.13|.	.|.	13.1628|13.1628	0.59554|0.59554	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	869;869|.	E9KL49;P52824|.	.;DGKQ_HUMAN|.	T|P	869;84|803	ENSP00000273814:I869T;ENSP00000421756:I84T|.	ENSP00000273814:I869T|.	I|S	-|-	2|1	0|0	DGKQ|DGKQ	944958|944958	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.825000|0.825000	0.46686|0.46686	5.430000|5.430000	0.66501|0.66501	2.008000|2.008000	0.58898|0.58898	0.454000|0.454000	0.30748|0.30748	ATC|TCC		0.726	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			35	156	0	0	0	1	0	35	156					G	954958	A	G	954958	3	3	105	1	0	0	0	0	1	0	0	0	4489	333	12	4	230	4	DGKQ	4	954958	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		954958	190199318	63	35553											
HGFAC	3083	broad.mit.edu	37	chr4	3445871	3445871	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccccgggccttcaccgGcaaggactgcggcacaggtg	14	16	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:3445871G>A	ENST00000382774.3	+	5	696	c.581G>A	c.(580-582)gGc>gAc	p.G194D	HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	194	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)		GCCTTCACCGGCAAGGACTGC	0.687																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(580-582)gGc>gAc		HGF activator							13	15	15					4																	3445871		2191	4294	6485	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3445871G>A	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.581G>A	4.37:g.3445871G>A	ENSP00000372224:p.Gly194Asp					HGFAC_ENST00000511533.1_Missense_Mutation_p.G194D	p.G194D	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	5	696	+			194			EGF-like 1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.581G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169872	0.38315	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.99105	-5.43;-5.43	3.94	3.94	0.45596	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	M	0.90650	3.135	0.45239	D	0.998246	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98698	1.0699	10	0.87932	D	0	.	13.5073	0.61491	0.0:0.0:1.0:0.0	.	194;194	D6RAR4;Q04756	.;HGFA_HUMAN	D	194	ENSP00000372224:G194D;ENSP00000421801:G194D	ENSP00000372224:G194D	G	+	2	0	HGFAC	3415669	0.004000	0.15560	0.189000	0.23252	0.168000	0.22595	0.771000	0.26633	2.023000	0.59567	0.313000	0.20887	GGC		0.687	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			5	113	0	0	0	1	0	5	113					A	3445871	G	A	3445871	3	1	105	1	0	0	0	0	1	0	0	0	7116	1203	42	2	599	2	HGFAC	4	3445871	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2490913	3445871	187708405	64	35554											
LYAR	55646	broad.mit.edu	37	chr4	4276167	4276169	+	In_Frame_Del	DEL	CTT	CTT	-													ctggcgctgtccttgcgctgCttcttcttcttgctcctctt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:4276167_4276169delCTT	ENST00000343470.4	-	7	997_999	c.757_759delAAG	c.(757-759)aagdel	p.K253del	LYAR_ENST00000452476.1_In_Frame_Del_p.K253del	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	253	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTTGCGCTGCTTCTTCTTCTTG	0.601																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(757-759)del		Ly1 antibody reactive																																				SO:0001651	inframe_deletion	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276167_4276169delCTT	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.757_759delAAG	4.37:g.4276176_4276178delCTT	ENSP00000345917:p.Lys253del					LYAR_ENST00000452476.1_In_Frame_Del_p.K253del	p.K253del	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	997_999	-			253			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	In_Frame_Del	DEL	ENST00000343470.4	37	c.757_759delAAG	CCDS3374.1																																																																																				0.601	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		7	1849						7	1849	---	---	---	---	-	4276169	CTT	-	4276167	7	5	105	1	0	1	0	1	0	0	0	0	9142	796	28	0	396	0	LYAR	4	4276167	In_Frame_Del	DEL	CTT	TCGA-OE-A75W-01A-12D-A32N-08	830296	4276167	186878109	65	35555											
FBXL5	26234	broad.mit.edu	37	chr4	15629518	15629518	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	ttaaacataccattttgctgGaaactgcagagctgtatgct	8	8	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:15629518G>C	ENST00000341285.3	-	7	1155	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C|FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	344					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATTTTGCTGGAAACTGCAGA	0.338																																						ENST00000341285.3																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						c.(1030-1032)tCc>tGc		F-box and leucine-rich repeat protein 5							83	80	81					4																	15629518		2202	4300	6502	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15629518G>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1031C>G	4.37:g.15629518G>C	ENSP00000344866:p.Ser344Cys					FBXL5_ENST00000412094.2_Missense_Mutation_p.S327C|FBXL5_ENST00000382358.4_Missense_Mutation_p.S218C	p.S344C	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN			7	1155	-			344					A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.1031C>G	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.92|16.92	3.256719|3.256719	0.59321|0.59321	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000513163|ENST00000341285;ENST00000412094;ENST00000382358	.|T;T;T	.|0.20598	.|2.06;2.06;2.06	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.103499	.|0.64402	.|D	.|0.000002	T|T	0.28466|0.28466	0.0704|0.0704	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|B;B	.|0.12630	.|0.006;0.003	.|B;B	.|0.13407	.|0.009;0.004	T|T	0.05194|0.05194	-1.0900|-1.0900	5|10	.|0.87932	.|D	.|0	-9.4228|-9.4228	17.5156|17.5156	0.87772|0.87772	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|327;344	.|Q9UKA1-2;Q9UKA1	.|.;FBXL5_HUMAN	L|C	264|344;327;218	.|ENSP00000344866:S344C;ENSP00000408679:S327C;ENSP00000371795:S218C	.|ENSP00000344866:S344C	F|S	-|-	3|2	2|0	FBXL5|FBXL5	15238616|15238616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	8.856000|8.856000	0.92245|0.92245	2.570000|2.570000	0.86706|0.86706	0.460000|0.460000	0.39030|0.39030	TTC|TCC		0.338	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			5	211	0	0	0	1	0	5	211					C	15629518	G	C	15629518	3	2	105	1	0	0	0	0	1	0	0	0	5747	1174	41	5	1064	5	FBXL5	4	15629518	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11353351	15629518	175524758	66	35556											
FRAS1	80144	broad.mit.edu	37	chr4	79417989	79417989	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtacggtctatatccacgatGactccatgtttgagccagag	10	10	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:79417989G>T	ENST00000264895.6	+	60	9429	c.8989G>T	c.(8989-8991)Gac>Tac	p.D2997Y		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2993	Calx-beta 4.				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						TATCCACGATGACTCCATGTT	0.448																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8989-8991)Gac>Tac		Fraser syndrome 1							192	187	188					4																	79417989		1947	4158	6105	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79417989G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8989G>T	4.37:g.79417989G>T	ENSP00000264895:p.Asp2997Tyr						p.D2997Y	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			60	9429	+			2992			Calx-beta 4.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8989G>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.113120|4.113120	0.77210|0.77210	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.57107|.	0.42|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86661|.	0.5986|.	M|M	0.92268|0.92268	3.29|3.29	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.89622|.	0.3849|.	10|.	0.87932|.	D|.	0|.	.|.	19.1434|19.1434	0.93455|0.93455	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2997|.	E9PHH6|.	.|.	Y|L	2997|1225	ENSP00000264895:D2997Y|.	ENSP00000264895:D2997Y|.	D|X	+|+	1|2	0|2	FRAS1|FRAS1	79637013|79637013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.580000|0.580000	0.36256|0.36256	9.594000|9.594000	0.98254|0.98254	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	GAC|TGA		0.448	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				13	792	1	0	2.32078e-09	1	2.43095e-09	13	792					T	79417989	G	T	79417989	3	4	105	1	0	0	0	0	1	0	0	0	6069	1290	45	3	9302	3	FRAS1	4	79417989	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	63788471	79417989	111736287	67	35557											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				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						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	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.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			9	375						9	375	---	---	---	---	-	81123252	CAG	-	81123250	7	5	105	1	0	1	0	1	0	0	0	0	12509	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-OE-A75W-01A-12D-A32N-08	1705261	81123250	110031026	68	35558											
ZNF330	27309	broad.mit.edu	37	chr4	142150724	142150724	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attcttgttccttggttacaGggtgcaatatgtgacttctg	10	7	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:142150724G>T	ENST00000262990.4	+	6	519		c.e6-1		ZNF330_ENST00000421169.2_Splice_Site	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330							chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CTTGGTTACAGGGTGCAATAT	0.428																																						ENST00000262990.4																			0				kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.e6-1		zinc finger protein 330							364	311	329					4																	142150724		2203	4300	6503	SO:0001630	splice_region_variant	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142150724G>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"Zinc fingers, C2H2-type"	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.292-1G>T	4.37:g.142150724G>T						ZNF330_ENST00000421169.2_Splice_Site		NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN			6	519	+	all_hematologic(180;0.162)							B2RDA3	Splice_Site	SNP	ENST00000262990.4	37		CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778159	0.70107	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738;ENST00000421169	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF330	142370174	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.864000	0.99589	2.802000	0.96397	0.563000	0.77884	.		0.428	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487	Intron	7	749	1	0	0.307466	1	0.307466	7	749					T	142150724	G	T	142150724	5	4	105	1	0	0	0	0	0	0	1	0	17901	1014	35	3	309	3	ZNF330	4	142150724	Splice_Site	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	61027474	142150724	49003552	69	35559											
MND1	84057	broad.mit.edu	37	chr4	154318479	154318479	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgatccgcaagttgtggaaGaaatacgtaagtttgtgtca	12	5	1	2	rs201358684		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:154318479G>T	ENST00000504860.1	+	5	458	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	MND1_ENST00000240488.3_Nonsense_Mutation_p.E154*					meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AGTTGTGGAAGAAATACGTAA	0.373																																						ENST00000240488.3																			0				large_intestine(2)|lung(1)	3						c.(460-462)Gaa>Taa		meiotic nuclear divisions 1 homolog (S. cerevisiae)							84	79	81					4																	154318479		2203	4300	6503	SO:0001587	stop_gained	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154318479G>T	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.415G>T	4.37:g.154318479G>T	ENSP00000422933:p.Glu139*					MND1_ENST00000504860.1_Nonsense_Mutation_p.E139*	p.E154*	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN			6	549	+	all_hematologic(180;0.093)		154						Nonsense_Mutation	SNP	ENST00000504860.1	37	c.460G>T		.	.	.	.	.	.	.	.	.	.	G	18.67	3.673305	0.67928	.	.	ENSG00000121211	ENST00000240488;ENST00000504860	.	.	.	5.44	5.44	0.79542	.	0.090339	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-33.0793	16.5451	0.84443	0.0:0.0:1.0:0.0	.	.	.	.	X	154;139	.	ENSP00000240488:E154X	E	+	1	0	MND1	154537929	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.502000	0.73695	2.690000	0.91761	0.555000	0.69702	GAA		0.373	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		11	48	1	0	4.68919e-08	1	4.89628e-08	11	48					T	154318479	G	T	154318479	4	4	105	1	0	0	0	0	0	1	0	0	9716	943	33	3	482	3	MND1	4	154318479	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12167755	154318479	36835797	70	35560											
FSTL5	56884	broad.mit.edu	37	chr4	162307378	162307378	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtcacatcactattgaAcccaatgactgagtcagtta	7	12	3	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr4:162307378A>T	ENST00000306100.5	-	16	2501	c.2065T>A	c.(2065-2067)Ttc>Atc	p.F689I	FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	689						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)		TCACTATTGAACCCAATGACT	0.488																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2065-2067)Ttc>Atc		follistatin-like 5							132	120	124					4																	162307378		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162307378A>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2065T>A	4.37:g.162307378A>T	ENSP00000305334:p.Phe689Ile					FSTL5_ENST00000427802.2_Missense_Mutation_p.F679I|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.F688I|FSTL5_ENST00000536695.1_Missense_Mutation_p.F688I	p.F689I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2501	-	all_hematologic(180;0.24)		689					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.2065T>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	14.06	2.422309	0.43020	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.71817	-0.58;-0.56;-0.6;-0.56	5.55	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);	0.397737	0.31134	N	0.008186	T	0.48484	0.1502	N	0.08118	0	0.28959	N	0.889968	B;B;B	0.17268	0.021;0.007;0.01	B;B;B	0.20184	0.028;0.007;0.019	T	0.38112	-0.9676	10	0.22706	T	0.39	.	10.4916	0.44754	0.9243:0.0:0.0757:0.0	.	679;688;689	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	I	689;688;679;688	ENSP00000305334:F689I;ENSP00000368462:F688I;ENSP00000389270:F679I;ENSP00000440409:F688I	ENSP00000305334:F689I	F	-	1	0	FSTL5	162526828	1.000000	0.71417	0.663000	0.29738	0.888000	0.51559	3.708000	0.54845	0.952000	0.37798	0.533000	0.62120	TTC		0.488	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		76	144	0	0	0	1	0	76	144					T	162307378	A	T	162307378	3	4	105	1	0	0	0	0	1	0	0	0	6107	43	2	5	482	5	FSTL5	4	162307378	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	7988899	162307378	28846898	71	35561											
CEP72	55722	broad.mit.edu	37	chr5	633946	633946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcctggtcatggatgCggatgacgaggcagtcctga	16	9	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:633946C>T	ENST00000264935.5	+	5	665	c.575C>T	c.(574-576)gCg>gTg	p.A192V	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	192					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTCATGGATGCGGATGACGAG	0.612																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(574-576)gCg>gTg		centrosomal protein 72kDa							132	133	133					5																	633946		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:633946C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.575C>T	5.37:g.633946C>T	ENSP00000264935:p.Ala192Val					CEP72_ENST00000444221.1_Intron	p.A192V	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		5	665	+			192					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.575C>T	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.455	0.854063	0.17106	.	.	ENSG00000112877	ENST00000264935	T	0.09911	2.93	5.14	2.14	0.27477	.	0.406531	0.25458	N	0.030523	T	0.11410	0.0278	M	0.65975	2.015	0.29054	N	0.884302	B	0.15473	0.013	B	0.12837	0.008	T	0.09662	-1.0664	10	0.40728	T	0.16	-11.1821	6.2359	0.20762	0.4236:0.4884:0.0:0.088	.	192	Q9P209	CEP72_HUMAN	V	192	ENSP00000264935:A192V	ENSP00000264935:A192V	A	+	2	0	CEP72	686946	0.023000	0.18921	0.021000	0.16686	0.247000	0.25773	0.787000	0.26858	0.650000	0.30769	-0.355000	0.07637	GCG		0.612	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		8	1020	0	0	0	1	0	8	1020					T	633946	C	T	633946	3	4	105	1	0	0	0	0	1	0	0	0	3269	768	27	1	593	1	CEP72	5	633946	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		633946	180281314	72	35562											
EGFLAM	133584	broad.mit.edu	37	chr5	38370412	38370412	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataaaggccagatttcgacaAgaagtggacctcaatccatg	9	9	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:38370412A>T	ENST00000354891.3	+	6	906	c.560A>T	c.(559-561)aAg>aTg	p.K187M	EGFLAM_ENST00000322350.5_Missense_Mutation_p.K187M	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	187	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GATTTCGACAAGAAGTGGACC	0.448																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(559-561)aAg>aTg		EGF-like, fibronectin type III and laminin G domains							89	86	87					5																	38370412		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38370412A>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.560A>T	5.37:g.38370412A>T	ENSP00000346964:p.Lys187Met					EGFLAM_ENST00000354891.3_Missense_Mutation_p.K187M	p.K187M	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			6	906	+	all_lung(31;0.000385)		187			Fibronectin type-III 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.560A>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479053	0.26511	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57595	0.39;0.39	5.82	0.571	0.17352	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.578369	0.20260	N	0.095883	T	0.31071	0.0785	N	0.17922	0.545	0.45515	D	0.998477	B;B	0.18461	0.014;0.028	B;B	0.13407	0.009;0.008	T	0.06770	-1.0808	10	0.45353	T	0.12	-9.2271	5.5891	0.17291	0.325:0.4351:0.2399:0.0	.	187;187	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	M	187	ENSP00000346964:K187M;ENSP00000313084:K187M	ENSP00000313084:K187M	K	+	2	0	EGFLAM	38406169	1.000000	0.71417	0.897000	0.35233	0.776000	0.43924	0.897000	0.28390	0.462000	0.27095	-0.429000	0.05907	AAG		0.448	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		87	230	0	0	0	1	0	87	230					T	38370412	A	T	38370412	3	4	105	1	0	0	0	0	1	0	0	0	4982	72	3	5	582	5	EGFLAM	5	38370412	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	37736466	38370412	142544848	73	35563											
NNT	23530	broad.mit.edu	37	chr5	43651892	43651892	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	catgttcaagcgtcccactgAccccccagaatacaactacc	5	17	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:43651892A>G	ENST00000264663.5	+	13	1990	c.1769A>G	c.(1768-1770)gAc>gGc	p.D590G	NNT_ENST00000512996.2_Missense_Mutation_p.D459G|NNT_ENST00000344920.4_Missense_Mutation_p.D590G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	590					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CGTCCCACTGACCCCCCAGAA	0.463																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1768-1770)gAc>gGc		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						159	160	160					5																	43651892		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43651892A>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1769A>G	5.37:g.43651892A>G	ENSP00000264663:p.Asp590Gly					NNT_ENST00000344920.4_Missense_Mutation_p.D590G|NNT_ENST00000512996.2_Missense_Mutation_p.D459G	p.D590G	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			13	1990	+	Lung NSC(6;2.58e-06)		590					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1769A>G	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854509	0.91355	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.96459	-4.02;-4.02;-3.87	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.99285	1.0897	10	0.87932	D	0	-27.7305	15.8513	0.78934	1.0:0.0:0.0:0.0	.	590	Q13423	NNTM_HUMAN	G	105;590;590;459	ENSP00000264663:D590G;ENSP00000343873:D590G;ENSP00000426343:D459G	ENSP00000264663:D590G	D	+	2	0	NNT	43687649	1.000000	0.71417	0.816000	0.32577	0.983000	0.72400	8.962000	0.93254	2.152000	0.67230	0.533000	0.62120	GAC		0.463	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		9	948	0	0	0	1	0	9	948					G	43651892	A	G	43651892	3	3	105	1	0	0	0	0	1	0	0	0	10552	275	10	4	1815	4	NNT	5	43651892	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	5281480	43651892	137263368	74	35564											
RNF180	285671	broad.mit.edu	37	chr5	63509712	63509712	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcactctgcctggaggtgCgaccaacatattttgagatg	11	9	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:63509712C>T	ENST00000389100.4	+	4	631	c.559C>T	c.(559-561)Cga>Tga	p.R187*	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	187					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)		CCTGGAGGTGCGACCAACATA	0.453																																						ENST00000389100.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(559-561)Cga>Tga		ring finger protein 180							57	64	61					5																	63509712		2203	4300	6503	SO:0001587	stop_gained	285671					integral to membrane|nuclear envelope	zinc ion binding	g.chr5:63509712C>T	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.559C>T	5.37:g.63509712C>T	ENSP00000373752:p.Arg187*					RNF180_ENST00000296615.6_Nonsense_Mutation_p.R187*|RNF180_ENST00000381081.2_Intron	p.R187*	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN		Lung(70;0.114)	4	631	+		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)	187					Q0JSU3|Q495A8|Q8NBD1	Nonsense_Mutation	SNP	ENST00000389100.4	37	c.559C>T	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987398	0.74589	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	.	.	.	6.08	3.21	0.36854	.	0.180087	0.38778	N	0.001574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0471	14.6552	0.68828	0.5204:0.4796:0.0:0.0	.	.	.	.	X	187	.	ENSP00000296615:R187X	R	+	1	2	RNF180	63545468	0.452000	0.25713	0.552000	0.28243	0.998000	0.95712	0.245000	0.18142	0.381000	0.24851	0.655000	0.94253	CGA		0.453	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532		82	164	0	0	0	1	0	82	164					T	63509712	C	T	63509712	4	4	105	1	0	0	0	0	0	1	0	0	13514	760	27	1	569	1	RNF180	5	63509712	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	19857820	63509712	117405548	75	35565											
HMGCR	3156	broad.mit.edu	37	chr5	74650437	74650437	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aactcatgagcgtggtgtatCtattcgccgacagttacttt	9	9	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:74650437C>T	ENST00000287936.4	+	12	1634	c.1478C>T	c.(1477-1479)tCt>tTt	p.S493F	HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F|HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	493	Catalytic.				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)	CGTGGTGTATCTATTCGCCGA	0.408																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(1477-1479)tCt>tTt		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						137	118	124					5																	74650437		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74650437C>T		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.1478C>T	5.37:g.74650437C>T	ENSP00000287936:p.Ser493Phe					HMGCR_ENST00000511206.1_Missense_Mutation_p.S493F|HMGCR_ENST00000343975.5_Missense_Mutation_p.S493F	p.S493F	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	12	1634	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	493			Catalytic.		B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.1478C>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263447	0.59431	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.44881	0.91;0.91;0.96	5.14	5.14	0.70334	Hydroxymethylglutaryl-CoA reductase, N-terminal (1);Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.166783	0.56097	D	0.000035	T	0.46946	0.1419	L	0.52905	1.665	0.46678	D	0.999152	B;P;B	0.42296	0.215;0.775;0.215	B;B;B	0.43274	0.102;0.414;0.102	T	0.50524	-0.8818	10	0.59425	D	0.04	-18.4228	18.978	0.92745	0.0:1.0:0.0:0.0	.	493;493;493	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	F	493;424;493;493	ENSP00000426745:S493F;ENSP00000287936:S493F;ENSP00000340816:S493F	ENSP00000287936:S493F	S	+	2	0	HMGCR	74686193	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.270000	0.58896	2.570000	0.86706	0.467000	0.42956	TCT		0.408	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			6	326	0	0	0	1	0	6	326					T	74650437	C	T	74650437	3	4	105	1	0	0	0	0	1	0	0	0	7261	913	32	2	1520	2	HMGCR	5	74650437	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	11140725	74650437	106264823	76	35566											
JMY	133746	broad.mit.edu	37	chr5	78586970	78586970	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtgtatgatcgaatgCgagctgatcagaagaaattt	11	5	1	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:78586970C>T	ENST00000396137.4	+	4	1837	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	459					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGATCGAATGCGAGCTGATCA	0.358																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1375-1377)Cga>Tga		junction mediating and regulatory protein, p53 cofactor							67	63	64					5																	78586970		1839	4087	5926	SO:0001587	stop_gained	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78586970C>T	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1375C>T	5.37:g.78586970C>T	ENSP00000379441:p.Arg459*						p.R459*	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	4	1837	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	459					A1L4P5|B5MDS2|B5MDT0	Nonsense_Mutation	SNP	ENST00000396137.4	37	c.1375C>T	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	C	42	9.715321	0.99245	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	.	.	.	5.31	4.36	0.52297	.	0.072710	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.8873	0.79261	0.1637:0.8363:0.0:0.0	.	.	.	.	X	459	.	ENSP00000282259:R459X	R	+	1	2	JMY	78622726	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.195000	0.32186	2.472000	0.83506	0.555000	0.69702	CGA		0.358	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		26	175	0	0	0	1	0	26	175					T	78586970	C	T	78586970	4	4	105	1	0	0	0	0	0	1	0	0	7987	760	27	1	1389	1	JMY	5	78586970	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3936533	78586970	102328290	77	35567											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			10	1002						10	1002	---	---	---	---	-	79372776	TGA	-	79372774	7	5	105	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-OE-A75W-01A-12D-A32N-08	785804	79372774	101542486	78	35568											
SLC25A46	91137	broad.mit.edu	37	chr5	110097039	110097039	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttccctacggtgcttcatGgagttcttcattacatcatc	6	12	5	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:110097039G>T	ENST00000355943.3	+	8	940	c.814G>T	c.(814-816)Gga>Tga	p.G272*	SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.G59*|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*|SLC25A46_ENST00000513706.1_3'UTR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	272					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		GGTGCTTCATGGAGTTCTTCA	0.433																																						ENST00000355943.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(814-816)Gga>Tga		solute carrier family 25, member 46							143	138	140					5																	110097039		2202	4300	6502	SO:0001587	stop_gained	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097039G>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"Solute carriers"	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.814G>T	5.37:g.110097039G>T	ENSP00000348211:p.Gly272*					SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000504098.1_Nonsense_Mutation_p.G126*|SLC25A46_ENST00000509432.1_Nonsense_Mutation_p.G59*|SLC25A46_ENST00000513807.1_Nonsense_Mutation_p.G110*|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Nonsense_Mutation_p.G181*	p.G272*	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	940	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	272					A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Nonsense_Mutation	SNP	ENST00000355943.3	37	c.814G>T	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	41	8.647432	0.98899	.	.	ENSG00000164209	ENST00000513807;ENST00000509442;ENST00000355943;ENST00000514046;ENST00000504098;ENST00000509432	.	.	.	5.96	5.96	0.96718	.	0.046676	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.8844	20.4192	0.99033	0.0:0.0:1.0:0.0	.	.	.	.	X	110;181;272;126;126;59	.	ENSP00000348211:G272X	G	+	1	0	SLC25A46	110124938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.713000	0.91408	2.831000	0.97527	0.650000	0.86243	GGA		0.433	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773		6	439	1	0	0.217242	1	0.217901	6	439					T	110097039	G	T	110097039	4	4	105	1	0	0	0	0	0	1	0	0	14561	1349	47	3	844	3	SLC25A46	5	110097039	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	30724265	110097039	70818221	79	35569											
FAM170A	340069	broad.mit.edu	37	chr5	118965470	118965470	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctagctgatatcatgaaaCgacgacaaaagaggaaacat	8	7	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:118965470C>T	ENST00000515256.1	+	1	179	c.7C>T	c.(7-9)Cga>Tga	p.R3*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	3					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TATCATGAAACGACGACAAAA	0.458																																						ENST00000515256.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						c.(7-9)Cga>Tga		family with sequence similarity 170, member A							166	163	164					5																	118965470		1868	4114	5982	SO:0001587	stop_gained	340069					intracellular	zinc ion binding	g.chr5:118965470C>T	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.7C>T	5.37:g.118965470C>T	ENSP00000422684:p.Arg3*						p.R3*			A1A519	F170A_HUMAN			1	179	+			3					Q66LM8|Q7Z4V2|Q8IW94	Nonsense_Mutation	SNP	ENST00000515256.1	37	c.7C>T		.	.	.	.	.	.	.	.	.	.	C	36	5.799191	0.96960	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	.	.	.	4.24	3.36	0.38483	.	0.000000	0.42172	D	0.000747	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.6887	9.5633	0.39383	0.2093:0.7907:0.0:0.0	.	.	.	.	X	3	.	.	R	+	1	2	FAM170A	118993369	0.821000	0.29204	0.659000	0.29680	0.781000	0.44180	1.696000	0.37773	1.368000	0.46115	0.561000	0.74099	CGA		0.458	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		7	714	0	0	0	1	0	7	714					T	118965470	C	T	118965470	4	4	105	1	0	0	0	0	0	1	0	0	5510	528	19	1	9	1	FAM170A	5	118965470	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	8868431	118965470	61949790	80	35570											
KIF20A	10112	broad.mit.edu	37	chr5	137518869	137518869	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctccagaaacaagtcatCgatgggcacagccagacact	8	13	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:137518869C>T	ENST00000394894.3	+	8	1070	c.844C>T	c.(844-846)Cga>Tga	p.R282*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	282	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)			AACAAGTCATCGATGGGCACA	0.498																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(844-846)Cga>Tga		kinesin family member 20A							59	57	57					5																	137518869		2203	4300	6503	SO:0001587	stop_gained	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137518869C>T	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.844C>T	5.37:g.137518869C>T	ENSP00000378356:p.Arg282*					KIF20A_ENST00000508792.1_Nonsense_Mutation_p.R264*	p.R282*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	1070	+			282			Kinesin-motor.		B4DL79|D3DQB6	Nonsense_Mutation	SNP	ENST00000394894.3	37	c.844C>T	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306221	0.60305	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	.	.	.	4.88	2.9	0.33743	.	0.709223	0.11400	N	0.567885	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.0424	8.3654	0.32382	0.137:0.7029:0.0:0.1601	.	.	.	.	X	282;264	.	ENSP00000378356:R282X	R	+	1	2	KIF20A	137546768	0.005000	0.15991	0.518000	0.27811	0.964000	0.63967	1.560000	0.36331	1.264000	0.44198	0.655000	0.94253	CGA		0.498	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		69	222	0	0	0	1	0	69	222					T	137518869	C	T	137518869	4	4	105	1	0	0	0	0	0	1	0	0	8316	876	31	1	870	1	KIF20A	5	137518869	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	18553399	137518869	43396391	81	35571											
PCDHA13	56136	broad.mit.edu	37	chr5	140263655	140263655	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gcgcgcggtggacgccgattCgggctacaatgcgtggcttt	16	11	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140263655C>T	ENST00000289272.2	+	1	1802	c.1802C>T	c.(1801-1803)tCg>tTg	p.S601L	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S601L|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	601	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)			GACGCCGATTCGGGCTACAAT	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1801-1803)tCg>tTg									68	73	71					5																	140263655		2202	4298	6500	SO:0001583	missense	0							g.chr5:140263655C>T	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.1802C>T	5.37:g.140263655C>T	ENSP00000289272:p.Ser601Leu					PCDHA13_ENST00000409494.1_Missense_Mutation_p.S601L|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron	p.S601L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1802	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1802C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230086	0.58777	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.49432	0.78;0.78	4.21	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71643	0.3364	M	0.84773	2.715	0.38022	D	0.934879	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.966;0.991;0.99	T	0.80863	-0.1192	9	0.87932	D	0	.	16.3687	0.83346	0.0:1.0:0.0:0.0	.	601;601;601	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	601	ENSP00000386821:S601L;ENSP00000289272:S601L	ENSP00000289272:S601L	S	+	2	0	PCDHA13	140243839	0.000000	0.05858	0.966000	0.40874	0.123000	0.20343	0.579000	0.23788	2.144000	0.66660	0.655000	0.94253	TCG		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		6	655	0	0	0	1	0	6	655					T	140263655	C	T	140263655	3	4	105	1	0	0	0	0	1	0	0	0	11565	893	31	1	1804	1	PCDHA13	5	140263655	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2744786	140263655	40651605	82	35572											
PCDHB6	56130	broad.mit.edu	37	chr5	140531689	140531689	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgttcggcgtgtgggcGcacaatggcgaggtgcgcac	18	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140531689G>A	ENST00000231136.1	+	1	1851	c.1851G>A	c.(1849-1851)gcG>gcA	p.A617A	PCDHB6_ENST00000543635.1_Silent_p.A481A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	617	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)			GCGTGTGGGCGCACAATGGCG	0.672																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1849-1851)gcG>gcA									23	26	25					5																	140531689		2038	4048	6086	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531689G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1851G>A	5.37:g.140531689G>A						PCDHB6_ENST00000543635.1_Silent_p.A481A	p.A617A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1851	+			617			Cadherin 6.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1851G>A	CCDS4248.1																																																																																				0.672	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		5	345	0	0	0	1	0	5	345					A	140531689	G	A	140531689	2	1	105	1	0	0	0	0	0	0	0	1	11588	1074	38	1		1	PCDHB6	5	140531689	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	268034	140531689	40383571	83	35573											
PCDHB8	56128	broad.mit.edu	37	chr5	140558339	140558339	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atgtcaatgataatgcccctGaatttgagcagcctttctat	7	9	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:140558339G>A	ENST00000239444.2	+	1	969	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	242	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(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)			TAATGCCCCTGAATTTGAGCA	0.502																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(724-726)Gaa>Aaa									204	262	243					5																	140558339		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558339G>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.724G>A	5.37:g.140558339G>A	ENSP00000239444:p.Glu242Lys						p.E242K	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	969	+			242			Cadherin 2.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.724G>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	g	12.50	1.957802	0.34565	.	.	ENSG00000120322	ENST00000239444	T	0.61510	0.1	4.25	1.37	0.22104	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.36054	0.0953	N	0.16266	0.395	0.23126	N	0.998252	B	0.26876	0.162	B	0.27608	0.081	T	0.21211	-1.0252	9	0.25106	T	0.35	.	5.6828	0.17786	0.26:0.1488:0.5912:0.0	.	242	Q9UN66	PCDB8_HUMAN	K	242	ENSP00000239444:E242K	ENSP00000239444:E242K	E	+	1	0	PCDHB8	140538523	0.000000	0.05858	0.995000	0.50966	0.983000	0.72400	0.137000	0.15995	-0.038000	0.13624	0.585000	0.79938	GAA		0.502	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		218	1305	0	0	0	1	0	218	1305					A	140558339	G	A	140558339	3	1	105	1	0	0	0	0	1	0	0	0	11590	1291	45	2	726	2	PCDHB8	5	140558339	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	26650	140558339	40356921	84	35574											
CLINT1	9685	broad.mit.edu	37	chr5	157232960	157232960	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atgtgctgctgctccaagatCaatggttttggaaggatttg	12	6	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:157232960C>G	ENST00000411809.2	-	7	1060	c.856G>C	c.(856-858)Gat>Cat	p.D286H	CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H|CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H|CLINT1_ENST00000523094.1_Missense_Mutation_p.D268H|CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	286					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)			GCTCCAAGATCAATGGTTTTG	0.483																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(802-804)Gat>Cat		clathrin interactor 1							273	274	274					5																	157232960		2139	4239	6378	SO:0001583	missense	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157232960C>G	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.856G>C	5.37:g.157232960C>G	ENSP00000388340:p.Asp286His					CLINT1_ENST00000296951.5_Missense_Mutation_p.D268H|CLINT1_ENST00000411809.2_Missense_Mutation_p.D286H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D268H|CLINT1_ENST00000523908.1_Missense_Mutation_p.D286H	p.D268H	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1007	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	286					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	ENST00000411809.2	37	c.802G>C	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.742679|4.742679	0.89573|0.89573	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.61040|.	0.14;0.14;0.25;0.14;0.22|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75591|.	0.3870|.	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|.	0.73238|.	-0.4046|.	10|.	0.72032|.	D|.	0.01|.	-18.413|-18.413	19.6818|19.6818	0.95967|0.95967	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	286;286|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	H|S	268;268;286;268;286|2	ENSP00000429345:D268H;ENSP00000433419:D268H;ENSP00000388340:D286H;ENSP00000296951:D268H;ENSP00000429824:D286H|.	ENSP00000296951:D268H|.	D|X	-|-	1|2	0|2	CLINT1|CLINT1	157165538|157165538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.786000|7.786000	0.85741|0.85741	2.656000|2.656000	0.90262|0.90262	0.557000|0.557000	0.71058|0.71058	GAT|TGA		0.483	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		7	322	0	0	0	1	0	7	322					G	157232960	C	G	157232960	3	3	105	1	0	0	0	0	1	0	0	0	3540	826	29	5	1045	5	CLINT1	5	157232960	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	16674621	157232960	23682300	85	35575											
RNF145	153830	broad.mit.edu	37	chr5	158596042	158596042	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactgccaggattaacagCgttactccttctgtcatgcc	8	13	2	0	rs568537586		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:158596042C>T	ENST00000424310.2	-	8	1319	c.960G>A	c.(958-960)acG>acA	p.T320T	RNF145_ENST00000274542.2_Silent_p.T348T|RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000520638.1_Silent_p.T334T|RNF145_ENST00000521606.2_Silent_p.T337T|RNF145_ENST00000518802.1_Silent_p.T350T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	320						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)			GGATTAACAGCGTTACTCCTT	0.383																																						ENST00000424310.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(958-960)acG>acA		ring finger protein 145							109	112	111					5																	158596042		2203	4300	6503	SO:0001819	synonymous_variant	153830					integral to membrane	zinc ion binding	g.chr5:158596042C>T	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.960G>A	5.37:g.158596042C>T						RNF145_ENST00000519865.1_Silent_p.T320T|RNF145_ENST00000520638.1_Silent_p.T334T|RNF145_ENST00000521606.2_Silent_p.T337T|RNF145_ENST00000518802.1_Silent_p.T350T|RNF145_ENST00000274542.2_Silent_p.T348T	p.T320T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1319	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	320					B7Z903|B7Z949|E7EVI7|Q8IVP7	Silent	SNP	ENST00000424310.2	37	c.960G>A	CCDS56390.1																																																																																				0.383	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		5	512	0	0	0	1	0	5	512					T	158596042	C	T	158596042	2	4	105	1	0	0	0	0	0	0	0	1	13497	755	27	1		1	RNF145	5	158596042	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1363082	158596042	22319218	86	35576											
ODZ2	57451	broad.mit.edu	37	chr5	167627098	167627098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catctgggacaagacagatgCgtatggccaaagggtgtatg	14	7	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:167627098C>T	ENST00000518659.1	+	17	3431	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	TENM2_ENST00000545108.1_Missense_Mutation_p.A1131V|TENM2_ENST00000403607.2_Missense_Mutation_p.A955V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1010V|TENM2_ENST00000520394.1_Missense_Mutation_p.A899V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1131					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)										AAGACAGATGCGTATGGCCAA	0.478																																						ENST00000519204.1																			0											c.(3028-3030)gCg>gTg		teneurin transmembrane protein 2							145	151	149					5																	167627098		1987	4164	6151	SO:0001583	missense	57451							g.chr5:167627098C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3392C>T	5.37:g.167627098C>T	ENSP00000429430:p.Ala1131Val					TENM2_ENST00000520394.1_Missense_Mutation_p.A899V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1131V|TENM2_ENST00000518659.1_Missense_Mutation_p.A1131V|TENM2_ENST00000403607.2_Missense_Mutation_p.A955V	p.A1010V							16	3147	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3029C>T		.	.	.	.	.	.	.	.	.	.	C	12.37	1.917000	0.33815	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88354	-1.91;-1.89;-2.01;-2.35;-2.37	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	N	0.12663	0.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	T	0.82104	-0.0622	10	0.02654	T	1	.	18.7579	0.91839	0.0:1.0:0.0:0.0	.	1131;1131;899	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1131;1131;1010;899;955	ENSP00000429430:A1131V;ENSP00000438635:A1131V;ENSP00000428964:A1010V;ENSP00000427874:A899V;ENSP00000384905:A955V	ENSP00000384905:A955V	A	+	2	0	ODZ2	167559676	1.000000	0.71417	0.792000	0.32020	0.876000	0.50452	7.818000	0.86416	2.419000	0.82065	0.561000	0.74099	GCG		0.478	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		27	68	0	0	0	1	0	27	68					T	167627098	C	T	167627098	3	4	105	1	0	0	0	0	1	0	0	0	10877	768	27	1	3431	1	ODZ2	5	167627098	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9031056	167627098	13288162	87	35577											
SLIT3	6586	broad.mit.edu	37	chr5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggagccccttgttgctgcatCgcaccactgtctccatacag	9	15	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				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)			GTTGCTGCATCGCACCACTGT	0.642																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2209-2211)cGa>cAa		slit homolog 3 (Drosophila)							72	71	71					5																	168175367		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175367C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2210G>A	5.37:g.168175367C>T	ENSP00000430333:p.Arg737Gln					SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q	p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2629	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	737			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2210G>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	c	36	5.620461	0.96660	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.95918	-3.85;-3.85;-3.85	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.167150	0.53938	D	0.000050	D	0.96442	0.8839	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.97301	0.9931	10	0.87932	D	0	.	19.0096	0.92868	0.0:1.0:0.0:0.0	.	737	O75094	SLIT3_HUMAN	Q	737	ENSP00000430333:R737Q;ENSP00000332164:R737Q;ENSP00000384890:R737Q	ENSP00000332164:R737Q	R	-	2	0	SLIT3	168107945	1.000000	0.71417	0.954000	0.39281	0.894000	0.52154	7.485000	0.81204	2.483000	0.83821	0.550000	0.68814	CGA		0.642	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		7	470	0	0	0	1	0	7	470					T	168175367	C	T	168175367	3	4	105	1	0	0	0	0	1	0	0	0	14791	884	31	1	2429	1	SLIT3	5	168175367	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	548269	168175367	12739893	88	35578											
CDHR2	54825	broad.mit.edu	37	chr5	176008451	176008451	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaccctgacacagggctcctCagaaacctggggcccctgga	12	15	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176008451C>G	ENST00000510636.1	+	17	2200	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	CDHR2_ENST00000261944.5_Silent_p.L642L|CDHR2_ENST00000506348.1_Silent_p.L642L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAGGGCTCCTCAGAAACCTGG	0.627																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(1924-1926)ctC>ctG		cadherin-related family member 2							54	53	53					5																	176008451		2203	4300	6503	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176008451C>G	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.1926C>G	5.37:g.176008451C>G						CDHR2_ENST00000261944.5_Silent_p.L642L|CDHR2_ENST00000506348.1_Silent_p.L642L	p.L642L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			17	2200	+			642			Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1926C>G	CCDS34297.1																																																																																				0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	257	0	0	0	1	0	4	257					G	176008451	C	G	176008451	2	3	105	1	0	0	0	0	0	0	0	1	3128	813	29	5		5	CDHR2	5	176008451	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	7833084	176008451	4906809	89	35579											
F12	2161	broad.mit.edu	37	chr5	176831274	176831274	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggctgcgcgggcatgagtGggacatgaagcctaggggac	18	10	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:176831274G>A	ENST00000253496.3	-	9	989	c.941C>T	c.(940-942)cCa>cTa	p.P314L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	314	Pro-rich.				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)	GGGCATGAGTGGGACATGAAG	0.711									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(940-942)cCa>cTa		coagulation factor XII (Hageman factor)							15	20	18					5																	176831274		2194	4290	6484	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176831274G>A	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.941C>T	5.37:g.176831274G>A	ENSP00000253496:p.Pro314Leu		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934		p.P314L	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	989	-	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)	314			Pro-rich.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.941C>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	8.380	0.837406	0.16891	.	.	ENSG00000131187	ENST00000253496	D	0.89050	-2.46	4.4	-4.43	0.03568	.	3.436950	0.00947	N	0.002906	T	0.72574	0.3477	N	0.05124	-0.11	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.67360	-0.5690	10	0.10377	T	0.69	.	5.3148	0.15850	0.486:0.0:0.374:0.14	.	314	P00748	FA12_HUMAN	L	314	ENSP00000253496:P314L	ENSP00000253496:P314L	P	-	2	0	F12	176763880	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-0.948000	0.03668	-1.191000	0.01696	CCA		0.711	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			37	118	0	0	0	1	0	37	118					A	176831274	G	A	176831274	3	1	105	1	0	0	0	0	1	0	0	0	5357	1348	47	2	930	2	F12	5	176831274	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	822823	176831274	4083986	90	35580											
CLK4	57396	broad.mit.edu	37	chr5	178045614	178045614	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	ttccttttaggactgcttctCctgctgcggactgaagattt	9	10	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr5:178045614C>G	ENST00000316308.4	-	3	495	c.327G>C	c.(325-327)agG>agC	p.R109S	CLK4_ENST00000522749.1_5'UTR|RN7SKP70_ENST00000516655.1_RNA	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	109					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)		GACTGCTTCTCCTGCTGCGGA	0.413																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(325-327)agG>agC		CDC-like kinase 4							226	214	218					5																	178045614		2203	4300	6503	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178045614C>G	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.327G>C	5.37:g.178045614C>G	ENSP00000316948:p.Arg109Ser					CLK4_ENST00000522749.1_5'UTR	p.R109S	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	3	495	-	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)	109						Missense_Mutation	SNP	ENST00000316308.4	37	c.327G>C	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845262	0.32606	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.68479	-0.33	5.72	5.72	0.89469	.	0.111533	0.64402	D	0.000001	T	0.48390	0.1497	L	0.31578	0.945	0.80722	D	1	B;P;B;B;B	0.39782	0.002;0.688;0.006;0.293;0.293	B;B;B;B;B	0.31442	0.006;0.13;0.006;0.039;0.039	T	0.47548	-0.9109	10	0.15066	T	0.55	.	13.0251	0.58810	0.0:0.8381:0.1619:0.0	.	109;109;109;109;109	B7Z990;B7ZL31;Q4G0Z5;B9EG64;Q9HAZ1	.;.;.;.;CLK4_HUMAN	S	109	ENSP00000316948:R109S	ENSP00000316948:R109S	R	-	3	2	CLK4	177978220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.230000	0.32612	2.700000	0.92200	0.563000	0.77884	AGG		0.413	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			5	587	0	0	0	1	0	5	587					G	178045614	C	G	178045614	3	3	105	1	0	0	0	0	1	0	0	0	3548	854	30	5	1162	5	CLK4	5	178045614	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1214340	178045614	2869646	91	35581											
RREB1	6239	broad.mit.edu	37	chr6	7246974	7246974	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatggacttcaagctggcgGagggcgacggcgaggcaggc	18	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:7246974G>A	ENST00000349384.6	+	11	4440	c.4126G>A	c.(4126-4128)Gag>Aag	p.E1376K	RREB1_ENST00000379938.2_Missense_Mutation_p.E1431K|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Missense_Mutation_p.E1376K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1376					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAAGCTGGCGGAGGGCGACGG	0.687																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4291-4293)Gag>Aag		ras responsive element binding protein 1							19	20	20					6																	7246974		2171	4253	6424	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7246974G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4126G>A	6.37:g.7246974G>A	ENSP00000305560:p.Glu1376Lys					RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Missense_Mutation_p.E1376K|RREB1_ENST00000349384.6_Missense_Mutation_p.E1376K	p.E1431K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			12	4828	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1376					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.4291G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252018	0.22880	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.11495	2.8;2.77;2.8	5.6	2.79	0.32731	.	.	.	.	.	T	0.03390	0.0098	L	0.52573	1.65	0.42564	D	0.993153	P;P	0.39022	0.524;0.655	B;B	0.30855	0.095;0.121	T	0.46857	-0.9161	9	0.29301	T	0.29	-19.3632	10.5135	0.44876	0.0679:0.2532:0.6789:0.0	.	1376;1431	Q92766;Q92766-2	RREB1_HUMAN;.	K	1376;1431;1376	ENSP00000369265:E1376K;ENSP00000369270:E1431K;ENSP00000305560:E1376K	ENSP00000305560:E1376K	E	+	1	0	RREB1	7191973	1.000000	0.71417	0.020000	0.16555	0.035000	0.12851	3.103000	0.50298	0.297000	0.22615	0.655000	0.94253	GAG		0.687	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			8	30	0	0	0	1	0	8	30					A	7246974	G	A	7246974	3	1	105	1	0	0	0	0	1	0	0	0	13729	1175	41	2	4325	2	RREB1	6	7246974	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		7246974	163868093	92	35582											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	20	13	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				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)			ctgctgctgcggcggcggcgg	0.761																																						ENST00000011619.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16						c.(28-30)cCg>cAg		RAN binding protein 9							4	5	5					6																	13711709		764	1870	2634	SO:0001583	missense	10048				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	g.chr6:13711709G>T	AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"Ran Binding Protein in the Microtubule organizing center"	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.29C>A	6.37:g.13711709G>T	ENSP00000011619:p.Pro10Gln						p.P10Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	Epithelial(50;0.223)		1	87	-	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	10			Poly-Pro.		A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Missense_Mutation	SNP	ENST00000011619.3	37	c.29C>A	CCDS4529.1	.	.	.	.	.	.	.	.	.	.	g	8.018	0.759040	0.15846	.	.	ENSG00000010017	ENST00000011619;ENST00000283152	T	0.78003	-1.14	1.59	-3.18	0.05186	.	.	.	.	.	T	0.30198	0.0757	N	0.08118	0	0.21416	N	0.999694	B	0.18968	0.032	B	0.10450	0.005	T	0.18555	-1.0333	9	0.30854	T	0.27	.	5.1241	0.14875	0.0:0.0:0.4149:0.5851	.	10	Q96S59	RANB9_HUMAN	Q	10	ENSP00000011619:P10Q	ENSP00000011619:P10Q	P	-	2	0	RANBP9	13819688	0.000000	0.05858	0.967000	0.41034	0.688000	0.40055	-1.054000	0.03496	-0.053000	0.13289	0.154000	0.16183	CCG		0.761	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1			4	113	1	0	5.9392e-07	1	6.16262e-07	4	113					T	13711709	G	T	13711709	3	4	105	1	0	0	0	0	1	0	0	0	13082	1116	39	3	2216	3	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6464735	13711709	157403358	93	35583											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-													aattcattatttacagggccTttttcccaactgggtattgt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237	235	236					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	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.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	952						7	952	---	---	---	---	-	27420810	T	-	27420810	7	5	105	1	0	1	0	1	0	0	0	0	17804	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	13709101	27420810	143694257	94	35584											
C6orf25	80740	broad.mit.edu	37	chr6	31691704	31691704	+	5'Flank	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccacgaggacgagagccGtacagtgcttcacgtgctgg	14	13	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:31691704G>A	ENST00000375819.2	-	0	0				C6orf25_ENST00000480039.1_Missense_Mutation_p.R117H|C6orf25_ENST00000375810.4_Missense_Mutation_p.R117H|C6orf25_ENST00000375809.3_Missense_Mutation_p.R117H|C6orf25_ENST00000375805.2_Missense_Mutation_p.R117H|LY6G6C_ENST00000495859.1_5'Flank	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GACGAGAGCCGTACAGTGCTT	0.637																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(349-351)cGt>cAt		chromosome 6 open reading frame 25							63	72	69					6																	31691704		2192	4288	6480	SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31691704G>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"chromosome 6 open reading frame 24"	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31691704G>A	Exception_encountered					C6orf25_ENST00000375810.4_Missense_Mutation_p.R117H|C6orf25_ENST00000375805.2_Missense_Mutation_p.R117H|C6orf25_ENST00000480039.1_Missense_Mutation_p.R117H	p.R117H	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN			2	361	+			117					Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.350G>A	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815500	0.70912	.	.	ENSG00000204420	ENST00000480039;ENST00000375810;ENST00000375805;ENST00000375809;ENST00000375804;ENST00000375814;ENST00000375806	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.03	1.29	0.21616	Immunoglobulin subtype (1);	0.660721	0.14041	N	0.345443	T	0.24084	0.0583	L	0.36672	1.1	0.18873	N	0.999983	B;B;B;B;B;B	0.20459	0.022;0.025;0.025;0.045;0.025;0.045	B;B;B;B;B;B	0.16722	0.007;0.011;0.011;0.011;0.011;0.016	T	0.29088	-1.0023	10	0.87932	D	0	-2.3695	6.892	0.24234	0.3785:0.0:0.6215:0.0	.	117;117;117;117;117;117	O95866-3;O95866-5;O95866;O95866-4;O95866-7;B0V023	.;.;G6B_HUMAN;.;.;.	H	117	ENSP00000419306:R117H;ENSP00000364968:R117H;ENSP00000364963:R117H;ENSP00000364967:R117H;ENSP00000364962:R117H;ENSP00000364972:R117H;ENSP00000364964:R117H	ENSP00000364962:R117H	R	+	2	0	C6orf25	31799683	0.246000	0.23909	0.072000	0.20136	0.995000	0.86356	0.816000	0.27267	0.048000	0.15891	0.491000	0.48974	CGT		0.637	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2			6	809	0	0	0	1	0	6	809					A	31691704	G	A	31691704	1	1	105	0	1	0	0	0	0	0	0	0	2367	1145	40	1		1	C6orf25	6	31691704	5'Flank	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4270894	31691704	139423363	95	35585											
MOCS1	4337	broad.mit.edu	37	chr6	39881079	39881079	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	accatcaaagggcatatactCtatgaagcgcacatccaggg	9	11	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:39881079C>G	ENST00000340692.5	-	6	742	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373186.4_Missense_Mutation_p.E247Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	247	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)					GGCATATACTCTATGAAGCGC	0.582																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(739-741)Gag>Cag		molybdenum cofactor synthesis 1							95	81	86					6																	39881079		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39881079C>G	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.739G>C	6.37:g.39881079C>G	ENSP00000344794:p.Glu247Gln					MOCS1_ENST00000308559.7_Missense_Mutation_p.E247Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E218Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E247Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E247Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E160Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E218Q	p.E247Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			5	876	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		247			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.739G>C		.	.	.	.	.	.	.	.	.	.	C	27.1	4.801911	0.90538	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69	4.68	4.68	0.58851	Elongator protein 3/MiaB/NifB (1);Molybdenum cofactor synthesis C-terminal (1);Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99984	5.225	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;0.999;0.998;0.997	D	0.97279	0.9916	9	.	.	.	-29.1172	17.2165	0.86945	0.0:1.0:0.0:0.0	.	247;247;247;247;247	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	Q	247;247;218;247;160;247;247;218	ENSP00000362282:E247Q;ENSP00000309843:E247Q;ENSP00000362270:E218Q;ENSP00000362284:E247Q;ENSP00000362291:E160Q;ENSP00000344794:E247Q;ENSP00000416478:E247Q;ENSP00000410809:E218Q	.	E	-	1	0	MOCS1	39989057	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.783000	0.85696	2.166000	0.68216	0.655000	0.94253	GAG		0.582	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		72	212	0	0	0	1	0	72	212					G	39881079	C	G	39881079	3	3	105	1	0	0	0	0	1	0	0	0	9731	922	32	5	438	5	MOCS1	6	39881079	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	8189375	39881079	131233988	96	35586											
KIAA0240	23506	broad.mit.edu	37	chr6	42832490	42832490	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccagcatggcagtaaagCaagcagctctctgcaaccgc	10	13	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:42832490C>T	ENST00000314073.5	+	13	2722	c.2546C>T	c.(2545-2547)gCa>gTa	p.A849V	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A849V			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	849																	GGCAGTAAAGCAAGCAGCTCT	0.512																																						ENST00000314073.5																			0											c.(2545-2547)gCa>gTa		GLTSCR1-like							122	102	109					6																	42832490		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832490C>T	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.2546C>T	6.37:g.42832490C>T	ENSP00000313933:p.Ala849Val					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.A849V	p.A849V							13	2722	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2546C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	9.662	1.144486	0.21288	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.43294	0.95;0.95	4.79	3.91	0.45181	.	0.774289	0.12166	N	0.493542	T	0.12774	0.0310	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.25467	-1.0131	10	0.40728	T	0.16	0.9563	10.3991	0.44218	0.0:0.8402:0.0:0.1598	.	849	Q6AI39	K0240_HUMAN	V	849	ENSP00000313933:A849V;ENSP00000377723:A849V	ENSP00000313933:A849V	A	+	2	0	KIAA0240	42940468	0.350000	0.24878	0.009000	0.14445	0.466000	0.32739	2.565000	0.45939	1.118000	0.41863	0.655000	0.94253	GCA		0.512	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		121	279	0	0	0	1	0	121	279					T	42832490	C	T	42832490	3	4	105	1	0	0	0	0	1	0	0	0	8194	710	25	2	2588	2	KIAA0240	6	42832490	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2951411	42832490	128282577	97	35587											
MDN1	23195	broad.mit.edu	37	chr6	90372572	90372574	+	In_Frame_Del	DEL	TCA	TCA	-													cttcctcctcatcttcctccTcatcatcatcaccccaaagc					rs36040566	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:90372572_90372574delTCA	ENST00000369393.3	-	86	14464_14466	c.14349_14351delTGA	c.(14347-14352)gatgag>gag	p.D4783del	MDN1_ENST00000428876.1_In_Frame_Del_p.D4783del			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4783			D -> E (in dbSNP:rs36040566).		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)		atcttcctcctcatcATCATCAC	0.458																																						ENST00000369393.3																			0				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						c.(14347-14352)gag>ga		MDN1, midasin homolog (yeast)																																				SO:0001651	inframe_deletion	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90372572_90372574delTCA	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.14349_14351delTGA	6.37:g.90372581_90372583delTCA	ENSP00000358400:p.Asp4783del					MDN1_ENST00000428876.1_In_Frame_Del_p.DE4783del	p.DE4783del			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	86	14464_14466	-		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)	4783		D -> E (in dbSNP:rs36040566).			O15019|Q5T794	In_Frame_Del	DEL	ENST00000369393.3	37	c.14349_14351delTGA	CCDS5024.1																																																																																				0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	444						7	444	---	---	---	---	-	90372574	TCA	-	90372572	7	5	105	1	0	1	0	1	0	0	0	0	9456	1551	54	0	2507	0	MDN1	6	90372572	In_Frame_Del	DEL	TCA	TCGA-OE-A75W-01A-12D-A32N-08	47540082	90372572	80742495	98	35588											
GRIK2	2898	broad.mit.edu	37	chr6	102516276	102516276	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtccctgaagtgccagCgtcggttaaaacataagcca	11	10	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:102516276C>T	ENST00000421544.1	+	16	3107	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	873					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)	GAAGTGCCAGCGTCGGTTAAA	0.398																																						ENST00000421544.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2617-2619)Cgt>Tgt		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						117	109	112					6																	102516276		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102516276C>T		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.2617C>T	6.37:g.102516276C>T	ENSP00000397026:p.Arg873Cys					GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R824C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R797C	p.R873C	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	16	3107	+		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)	873					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2617C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795302	0.90453	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.12147	2.71;2.87;2.72	5.79	5.79	0.91817	.	0.050411	0.85682	D	0.000000	T	0.20941	0.0504	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	P	0.55260	0.772	T	0.00276	-1.1855	10	0.59425	D	0.04	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	873	Q13002	GRIK2_HUMAN	C	873;797;824	ENSP00000397026:R873C;ENSP00000358133:R797C;ENSP00000358130:R824C	ENSP00000358130:R824C	R	+	1	0	GRIK2	102622969	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.745000	0.94114	0.462000	0.41574	CGT		0.398	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			70	130	0	0	0	1	0	70	130					T	102516276	C	T	102516276	3	4	105	1	0	0	0	0	1	0	0	0	6804	768	27	1	2852	1	GRIK2	6	102516276	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	12143704	102516276	68598791	99	35589											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-													tcctatactcctcctccacaTtttttttcagattaaaacgg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																						ENST00000403834.3																			2	Insertion - Frameshift(2)	p.N759fs*7(1)|p.N765fs*7(1)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2293-2295)atfs		mediator complex subunit 23							154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919846delT	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs					MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs	p.N765fs			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2467	-	Breast(56;0.0753)		759					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.2294delA	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			7	277						7	277	---	---	---	---	-	131919846	T	-	131919846	7	5	105	1	0	1	0	1	0	0	0	0	9482	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	29403570	131919846	39195221	100	35590											
SDK1	221935	broad.mit.edu	37	chr7	4089014	4089014	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagaacgtgcagacggaAgccgtgaactccaccaccat	10	15	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:4089014A>G	ENST00000404826.2	+	18	2776	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	SDK1_ENST00000389531.3_Silent_p.E879E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	879	Fibronectin type-III 3. {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)		TGCAGACGGAAGCCGTGAACT	0.582																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2635-2637)gaA>gaG		sidekick cell adhesion molecule 1							87	75	79					7																	4089014		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4089014A>G	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.2637A>G	7.37:g.4089014A>G						SDK1_ENST00000389531.3_Silent_p.E879E	p.E879E	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	18	2776	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	879			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2637A>G	CCDS34590.1																																																																																				0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		53	170	0	0	0	1	0	53	170					G	4089014	A	G	4089014	2	3	105	1	0	0	0	0	0	0	0	1	14018	69	3	4		4	SDK1	7	4089014	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		4089014	155049649	101	35591											
CPVL	54504	broad.mit.edu	37	chr7	29070261	29070262	+	Frame_Shift_Ins	INS	-	-	T													gatttaaagatcttccaaacINSttttttttctgccttcttgt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:29070261_29070262insT	ENST00000409850.1	-	16	1897_1898	c.1251_1252insA	c.(1249-1254)aaagttfs	p.V418fs	CPVL_ENST00000396276.3_Frame_Shift_Ins_p.V418fs|CPVL_ENST00000265394.5_Frame_Shift_Ins_p.V418fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	418						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.V418fs*24(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATCTTCCAAACTTTTTTTTCTG	0.51																																						ENST00000409850.1																			1	Deletion - Frameshift(1)	p.V418fs*24(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(1249-1254)aatttgfs		carboxypeptidase, vitellogenic-like																																				SO:0001589	frameshift_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29070261_29070262insT	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.1252dupA	7.37:g.29070269_29070269dupT	ENSP00000387164:p.Val418fs					CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs	p.NL417fs			Q9H3G5	CPVL_HUMAN			16	1897_1898	-			417					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Frame_Shift_Ins	INS	ENST00000409850.1	37	c.1251_1252insA	CCDS5419.1																																																																																				0.51	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		7	926						7	926	---	---	---	---	T	29070262	-	T	29070261	7	5	105	1	0	1	1	0	0	0	0	0	3844	565	20	0	186	0	CPVL	7	29070261	Frame_Shift_Ins	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	24981247	29070261	130068402	102	35592											
DDC	1644	broad.mit.edu	37	chr7	50595897	50595897	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcagggcagacgcacGcatggcgaagttgccatctg	13	12	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:50595897G>C	ENST00000444124.2	-	6	852	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	DDC_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000380984.4_Missense_Mutation_p.R218G|DDC_ENST00000357936.5_Missense_Mutation_p.R218G|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	218					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGACGCACGCATGGCGAAG	0.532																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(652-654)Cgt>Ggt		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						100	98	98					7																	50595897		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595897G>C		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.652C>G	7.37:g.50595897G>C	ENSP00000403644:p.Arg218Gly					DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.R218G|DDC_ENST00000431062.1_Intron|DDC_ENST00000426377.1_Missense_Mutation_p.R140G|DDC_ENST00000380984.4_Missense_Mutation_p.R218G	p.R218G	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN			6	852	-	Glioma(55;0.08)|all_neural(89;0.245)		218					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.652C>G	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.186512|3.186512	0.57909|0.57909	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000430300|ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	.|T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13	6.06|6.06	4.2|4.2	0.49525|0.49525	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.102551	.|0.64402	.|D	.|0.000006	T|T	0.65186|0.65186	0.2667|0.2667	H|H	0.95187|0.95187	3.635|3.635	0.48632|0.48632	D|D	0.999681|0.999681	.|B;B	.|0.33103	.|0.397;0.397	.|B;B	.|0.43251	.|0.413;0.413	T|T	0.71807|0.71807	-0.4481|-0.4481	5|10	.|0.87932	.|D	.|0	-7.8105|-7.8105	14.373|14.373	0.66854|0.66854	0.0:0.0:0.7221:0.2779|0.0:0.0:0.7221:0.2779	.|.	.|218;218	.|Q53Y41;P20711	.|.;DDC_HUMAN	W|G	98|218;140;218;218	.|ENSP00000350616:R218G;ENSP00000395069:R140G;ENSP00000403644:R218G;ENSP00000370371:R218G	.|ENSP00000350616:R218G	C|R	-|-	3|1	2|0	DDC|DDC	50563391|50563391	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.564000|0.564000	0.35744|0.35744	1.378000|1.378000	0.34328|0.34328	0.826000|0.826000	0.34661|0.34661	0.650000|0.650000	0.86243|0.86243	TGC|CGT		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			130	384	0	0	0	1	0	130	384					C	50595897	G	C	50595897	3	2	105	1	0	0	0	0	1	0	0	0	4336	1087	38	5	826	5	DDC	7	50595897	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	21525636	50595897	108542766	103	35593											
DNAJC2	27000	broad.mit.edu	37	chr7	102960230	102960230	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagccgatcacaaagtTtttccacttcttccatcatt	4	12	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:102960230T>G	ENST00000379263.3	-	11	1395	c.1145A>C	c.(1144-1146)aAa>aCa	p.K382T	DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	382					'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						ATCACAAAGTTTTTCCACTTC	0.353																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1144-1146)aAa>aCa		DnaJ (Hsp40) homolog, subfamily C, member 2							209	192	197					7																	102960230		1834	4093	5927	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102960230T>G	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.1145A>C	7.37:g.102960230T>G	ENSP00000368565:p.Lys382Thr					DNAJC2_ENST00000249270.7_Intron|PMPCB_ENST00000420236.2_Intron	p.K382T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			11	1395	-			382					A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.1145A>C	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487186	0.84854	.	.	ENSG00000105821	ENST00000379263	T	0.44482	0.92	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.60495	0.2273	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.55289	-0.8164	10	0.20046	T	0.44	-28.1622	16.2853	0.82717	0.0:0.0:0.0:1.0	.	382	Q99543	DNJC2_HUMAN	T	382	ENSP00000368565:K382T	ENSP00000368565:K382T	K	-	2	0	DNAJC2	102747466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.665000	0.83852	2.236000	0.73375	0.528000	0.53228	AAA		0.353	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			7	735	0	0	0	1	0	7	735					G	102960230	T	G	102960230	3	3	105	1	0	0	0	0	1	0	0	0	4655	1841	64	4	748	4	DNAJC2	7	102960230	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	52364333	102960230	56178433	104	35594											
GRM8	2918	broad.mit.edu	37	chr7	126410092	126410092	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cctttccttcctgttcataaGatgaatcccgagcaattcgc	6	13	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:126410092G>A	ENST00000339582.2	-	7	1992	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	GRM8_ENST00000405249.1_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	395					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)				CTGTTCATAAGATGAATCCCG	0.388										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1183-1185)tCt>tTt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						80	70	73					7																	126410092		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410092G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1184C>T	7.37:g.126410092G>A	ENSP00000344173:p.Ser395Phe	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.S395F|GRM8_ENST00000405249.1_Missense_Mutation_p.S395F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S395F	p.S395F			O00222	GRM8_HUMAN			7	1992	-		Prostate(267;0.186)	395					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1184C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783695	0.16189	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.88	5.88	0.94601	Extracellular ligand-binding receptor (1);	0.247838	0.38217	N	0.001768	D	0.82848	0.5126	L	0.29908	0.895	0.44247	D	0.997094	B;B;B	0.29378	0.243;0.141;0.037	B;B;B	0.35114	0.196;0.054;0.043	T	0.80455	-0.1375	10	0.46703	T	0.11	.	14.7788	0.69749	0.0:0.1438:0.8562:0.0	.	395;395;395	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	F	395	ENSP00000344173:S395F;ENSP00000409790:S395F;ENSP00000351142:S395F;ENSP00000385731:S395F	ENSP00000344173:S395F	S	-	2	0	GRM8	126197328	0.998000	0.40836	0.781000	0.31783	0.040000	0.13550	2.992000	0.49417	2.769000	0.95229	0.655000	0.94253	TCT		0.388	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			47	89	0	0	0	1	0	47	89					A	126410092	G	A	126410092	3	1	105	1	0	0	0	0	1	0	0	0	6833	942	33	2	1612	2	GRM8	7	126410092	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	23449862	126410092	32728571	105	35595											
SSPO	23145	broad.mit.edu	37	chr7	149523658	149523658	+	RNA	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	agcctggctgtggctgccctGgagggcaggtgggtacgggg	21	9	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:149523658G>C	ENST00000378016.2	+	0	14572							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)			TGGCTGCCCTGGAGGGCAGGT	0.672																																						ENST00000378016.2																			0													SCO-spondin							13	16	15					7																	149523658		2150	4239	6389			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149523658G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149523658G>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14572	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				23	55	0	0	0	1	0	23	55					C	149523658	G	C	149523658	1	2	105	0	1	0	0	0	0	0	0	0	15241	1349	47	5		5	SSPO	7	149523658	RNA	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	23113566	149523658	9615005	106	35596											
TMUB1	83590	broad.mit.edu	37	chr7	150779321	150779321	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gccacctgctctgaatcattGaggaatttcagccgtagcac	9	12	3	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:150779321G>T	ENST00000392818.3	-	2	687	c.330C>A	c.(328-330)ctC>ctA	p.L110L	TMUB1_ENST00000476627.1_Silent_p.L110L|TMUB1_ENST00000482202.1_Silent_p.L110L|TMUB1_ENST00000297533.4_Silent_p.L110L|FASTK_ENST00000482571.1_5'Flank|TMUB1_ENST00000462940.1_Silent_p.L110L|FASTK_ENST00000540185.1_5'Flank|FASTK_ENST00000297532.6_5'Flank|FASTK_ENST00000353841.2_5'Flank|FASTK_ENST00000489884.1_5'Flank	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	110	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAATCATTGAGGAATTTCA	0.607																																						ENST00000392818.3																			0				endometrium(1)|lung(1)	2						c.(328-330)ctC>ctA		transmembrane and ubiquitin-like domain containing 1							123	146	138					7																	150779321		2203	4300	6503	SO:0001819	synonymous_variant	83590					cytoplasm|integral to membrane|nucleus		g.chr7:150779321G>T	BC000936	CCDS5920.1	7q36.1	2006-06-27	2006-06-27	2006-06-27	ENSG00000164897	ENSG00000164897			21709	protein-coding gene	gene with protein product		614792	"chromosome 7 open reading frame 21"	C7orf21			Standard	NM_001136044		Approved	SB144	uc003wjd.3	Q9BVT8	OTTHUMG00000158621	ENST00000392818.3:c.330C>A	7.37:g.150779321G>T						TMUB1_ENST00000476627.1_Silent_p.L110L|TMUB1_ENST00000482202.1_Silent_p.L110L|TMUB1_ENST00000462940.1_Silent_p.L110L|TMUB1_ENST00000297533.4_Silent_p.L110L	p.L110L	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	687	-			110			Ubiquitin-like.		D3DX06|Q53AQ2	Silent	SNP	ENST00000392818.3	37	c.330C>A	CCDS5920.1																																																																																				0.607	TMUB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351485.1	NM_031434		10	1372	1	0	0.000602214	1	0.00061713	10	1372					T	150779321	G	T	150779321	2	4	105	1	0	0	0	0	0	0	0	1	16316	1277	45	3		3	TMUB1	7	150779321	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1255663	150779321	8359342	107	35597											
SHH	6469	broad.mit.edu	37	chr7	155604784	155604784	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	accagcagcgaggagacgagGactagcagcagacatctcgc	13	12	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:155604784G>A	ENST00000297261.2	-	1	183	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	11					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGACGAGGACTAGCAGCA	0.657																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(31-33)gtC>gtT		sonic hedgehog							71	80	77					7																	155604784		2203	4300	6503	SO:0001819	synonymous_variant	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155604784G>A		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"sonic hedgehog (Drosophila) homolog", "sonic hedgehog homolog (Drosophila)"	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.33C>T	7.37:g.155604784G>A							p.V11V	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	183	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	11					A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	c.33C>T	CCDS5942.1																																																																																				0.657	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		10	508	0	0	0	1	0	10	508					A	155604784	G	A	155604784	2	1	105	1	0	0	0	0	0	0	0	1	14329	1161	41	2		2	SHH	7	155604784	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4825463	155604784	3533879	108	35598											
PTPRN2	5799	broad.mit.edu	37	chr7	157926573	157926573	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagatctttggaatacGtctggctcttgacgttctcc	9	12	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr7:157926573G>A	ENST00000389418.4	-	9	1361	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRN2_ENST00000389413.3_Missense_Mutation_p.T451M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	451					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)		TTTGGAATACGTCTGGCTCTT	0.612																																						ENST00000389413.3																			0				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						c.(1351-1353)aCg>aTg		protein tyrosine phosphatase, receptor type, N polypeptide 2							64	69	67					7																	157926573		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926573G>A	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.1352C>T	7.37:g.157926573G>A	ENSP00000374069:p.Thr451Met					PTPRN2_ENST00000389418.4_Missense_Mutation_p.T451M|PTPRN2_ENST00000404321.2_Missense_Mutation_p.T474M|PTPRN2_ENST00000409483.1_Missense_Mutation_p.T413M|PTPRN2_ENST00000389416.4_Missense_Mutation_p.T434M	p.T451M	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1455	-	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)	451					E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1352C>T	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938456	0.34189	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.08984	3.14;3.03;3.1;3.13;3.09	3.78	3.78	0.43462	.	0.331135	0.20745	U	0.086475	T	0.17534	0.0421	L	0.32530	0.975	0.31682	N	0.643063	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.71870	0.975;0.944;0.975;0.944;0.944	T	0.02797	-1.1109	10	0.66056	D	0.02	.	12.9114	0.58182	0.0:0.0:1.0:0.0	.	474;413;451;434;451	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	M	413;451;434;451;474	ENSP00000387114:T413M;ENSP00000374064:T451M;ENSP00000374067:T434M;ENSP00000374069:T451M;ENSP00000385464:T474M	ENSP00000374064:T451M	T	-	2	0	PTPRN2	157619334	1.000000	0.71417	0.126000	0.21872	0.004000	0.04260	3.318000	0.51975	1.810000	0.52873	0.585000	0.79938	ACG		0.612	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			8	633	0	0	0	1	0	8	633					A	157926573	G	A	157926573	3	1	105	1	0	0	0	0	1	0	0	0	12858	1145	40	1	1755	1	PTPRN2	7	157926573	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2321789	157926573	1212090	109	35599											
RP1L1	94137	broad.mit.edu	37	chr8	10470667	10470667	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccgtcctcattcatgCggaccttcttcttcatgtca	8	14	6	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:10470667C>T	ENST00000382483.3	-	4	1164	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	314					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)		CTCATTCATGCGGACCTTCTT	0.662																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(940-942)cGc>cAc		retinitis pigmentosa 1-like 1							83	92	89					8																	10470667		2131	4235	6366	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470667C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.941G>A	8.37:g.10470667C>T	ENSP00000371923:p.Arg314His						p.R314H	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1164	-			314					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.941G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589738	0.28357	.	.	ENSG00000183638	ENST00000382483	T	0.03745	3.82	4.82	-5.91	0.02269	.	1.397370	0.05168	N	0.499120	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B	0.23058	0.079	B	0.12837	0.008	T	0.35822	-0.9773	10	0.21014	T	0.42	-0.1093	16.5366	0.84374	0.0:0.105:0.0:0.895	.	314	A6NKC6	.	H	314	ENSP00000371923:R314H	ENSP00000371923:R314H	R	-	2	0	RP1L1	10508077	0.003000	0.15002	0.013000	0.15412	0.915000	0.54546	0.048000	0.14078	-1.353000	0.02191	0.591000	0.81541	CGC		0.662	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			6	572	0	0	0	1	0	6	572					T	10470667	C	T	10470667	3	4	105	1	0	0	0	0	1	0	0	0	13583	768	27	1	6265	1	RP1L1	8	10470667	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		10470667	135893355	110	35600											
EFHA2	286097	broad.mit.edu	37	chr8	16963071	16963071	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtatttttagaaaatgtgcGttacagtatacctgaagaaa	8	4	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:16963071G>A	ENST00000318063.5	+	11	1277	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	MICU3_ENST00000519866.1_3'UTR	NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	412	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R412H(1)									GAAAATGTGCGTTACAGTATA	0.318																																						ENST00000318063.5																			1	Substitution - Missense(1)	p.R412H(1)	large_intestine(1)								c.(1234-1236)cGt>cAt		mitochondrial calcium uptake family, member 3							58	60	59					8																	16963071		2198	4296	6494	SO:0001583	missense	286097							g.chr8:16963071G>A	BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.1235G>A	8.37:g.16963071G>A	ENSP00000321455:p.Arg412His					MICU3_ENST00000519866.1_3'UTR	p.R412H	NM_181723.2	NP_859074.1					11	1277	+								Q8IYZ3	Missense_Mutation	SNP	ENST00000318063.5	37	c.1235G>A	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.245739|2.245739	0.39697|0.39697	.|.	.|.	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000519044	T|.	0.29397|.	1.57|.	4.99|4.99	4.11|4.11	0.48088|0.48088	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53981|0.53981	0.1830|0.1830	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B|.	0.24618|.	0.107|.	B|.	0.12156|.	0.007|.	T|T	0.50065|0.50065	-0.8871|-0.8871	10|5	0.44086|.	T|.	0.13|.	-6.0062|-6.0062	11.508|11.508	0.50479|0.50479	0.1483:0.0:0.8517:0.0|0.1483:0.0:0.8517:0.0	.|.	412|.	Q86XE3|.	EFHA2_HUMAN|.	H|I	412|257	ENSP00000321455:R412H|.	ENSP00000321455:R412H|.	R|V	+|+	2|1	0|0	EFHA2|EFHA2	17007442|17007442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.353000|5.353000	0.66034|0.66034	1.409000|1.409000	0.46915|0.46915	0.650000|0.650000	0.86243|0.86243	CGT|GTT		0.318	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723		31	50	0	0	0	1	0	31	50					A	16963071	G	A	16963071	3	1	105	1	0	0	0	0	1	0	0	0	4960	1145	40	1	1277	1	EFHA2	8	16963071	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6492404	16963071	129400951	111	35601											
C8orf76	84933	broad.mit.edu	37	chr8	124253563	124253563	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagtcctcgaactcgccgccGaacaaccagcacccggaatc	9	17	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:124253563G>A	ENST00000276704.4	-	1	75	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	8								p.F8L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCGCCGCCGAACAACCAGC	0.716																																						ENST00000276704.4																			1	Substitution - Missense(1)	p.F8L(1)	prostate(1)	NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17						c.(22-24)ttC>ttT		chromosome 8 open reading frame 76							11	11	11					8																	124253563		2168	4258	6426	SO:0001819	synonymous_variant	84933						binding	g.chr8:124253563G>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.24C>T	8.37:g.124253563G>A						C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.F8F	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	75	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		8					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.24C>T	CCDS6341.1																																																																																				0.716	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1	NM_032847		5	184	0	0	0	1	0	5	184					A	124253563	G	A	124253563	2	1	105	1	0	0	0	0	0	0	0	1	2444	1049	37	1		1	C8orf76	8	124253563	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	107290492	124253563	22110459	112	35602											
WISP1	8840	broad.mit.edu	37	chr8	134233083	134233083	+	Splice_Site	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccgtgacacaggagccttCggtgggtgtgggcccgagtg	17	12	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:134233083C>T	ENST00000250160.6	+	3	715	c.609C>T	c.(607-609)ttC>ttT	p.F203F	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	203					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)		p.F203F(1)		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)			CAGGAGCCTTCGGTGGGTGTG	0.632																																						ENST00000250160.6																			1	Substitution - coding silent(1)	p.F203F(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.e3+1		WNT1 inducible signaling pathway protein 1							23	21	22					8																	134233083		2183	4282	6465	SO:0001630	splice_region_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134233083C>T	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.610+1C>T	8.37:g.134233083C>T						WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	p.F203_splice	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	715	+	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)		203					A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Splice_Site	SNP	ENST00000250160.6	37	c.610_splice	CCDS6371.1																																																																																				0.632	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882	Silent	64	206	0	0	0	1	0	64	206					T	134233083	C	T	134233083	5	4	105	1	0	0	0	0	0	0	1	0	17426	898	31	1	619	1	WISP1	8	134233083	Splice_Site	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9979520	134233083	12130939	113	35603											
COL22A1	169044	broad.mit.edu	37	chr8	139727970	139727970	+	Frame_Shift_Del	DEL	T	T	-													cctggaagtcccagttcaccTttttctccctataataaaag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:139727970delT	ENST00000303045.6	-	30	2918	c.2472delA	c.(2470-2472)aaafs	p.K824fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K824fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	824	Collagen-like 6.|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)		p.K824>?(1)|p.K824N(1)		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)			CCAGTTCACCTTTTTCTCCCT	0.383										HNSCC(7;0.00092)																												ENST00000303045.6																			2	Substitution - Missense(1)|Complex(1)	p.K824>?(1)|p.K824N(1)	lung(2)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2470-2472)aafs		collagen, type XXII, alpha 1							73	79	77					8																	139727970		2203	4300	6503	SO:0001589	frameshift_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139727970delT	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.2472delA	8.37:g.139727970delT	ENSP00000303153:p.Lys824fs	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K824fs|COL22A1_ENST00000341807.4_5'UTR	p.K824fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		30	2918	-	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)		824			Collagen-like 6.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	ENST00000303045.6	37	c.2472delA	CCDS6376.1																																																																																				0.383	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		8	847						8	847	---	---	---	---	-	139727970	T	-	139727970	7	5	105	1	0	1	0	1	0	0	0	0	3690	1606	56	0	2552	0	COL22A1	8	139727970	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	5494887	139727970	6636052	114	35604											
SLC45A4	57210	broad.mit.edu	37	chr8	142228490	142228492	+	In_Frame_Del	DEL	GCC	GCC	-													ggcctgcctgcggaacgcgtGccgccgccgccgcatggagc					rs368794575		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:142228490_142228492delGCC	ENST00000024061.3	-	4	1401_1403	c.1094_1096delGGC	c.(1093-1098)cggcac>cac	p.R365del	SLC45A4_ENST00000517878.1_In_Frame_Del_p.R416del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.R358del|SLC45A4_ENST00000519067.1_In_Frame_Del_p.R365del	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)			CGGAACGCGTGCCGCCGCCGCCG	0.675																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1093-1098)cac>c		solute carrier family 45, member 4																																				SO:0001651	inframe_deletion	57210				transport	integral to membrane		g.chr8:142228490_142228492delGCC	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.1094_1096delGGC	8.37:g.142228499_142228501delGCC	ENSP00000024061:p.Arg365del					SLC45A4_ENST00000433583.2_In_Frame_Del_p.RH358del|SLC45A4_ENST00000024061.3_In_Frame_Del_p.RH365del|SLC45A4_ENST00000517878.1_In_Frame_Del_p.RH416del	p.RH365del			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1397_1399	-	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)		416					Q6ZRI2|Q9ULU3	In_Frame_Del	DEL	ENST00000024061.3	37	c.1094_1096delGGC	CCDS34948.1																																																																																				0.675	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		9	547						9	547	---	---	---	---	-	142228492	GCC	-	142228490	7	5	105	1	0	1	0	1	0	0	0	0	14693	1319	46	0	1320	0	SLC45A4	8	142228490	In_Frame_Del	DEL	GCC	TCGA-OE-A75W-01A-12D-A32N-08	2500520	142228490	4135532	115	35605											
PLEC	5339	broad.mit.edu	37	chr8	144993374	144993374	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttcagtggcagaaggcGcaagcccgtctcggggtcct	13	14	2	1	rs201438739	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr8:144993374G>A	ENST00000322810.4	-	32	11195	c.11026C>T	c.(11026-11028)Cgc>Tgc	p.R3676C	PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C|PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3676	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						GGCAGAAGGCGCAAGCCCGTC	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		16840	0.002		0.0	False		,,,				2504	0.002					ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11026-11028)Cgc>Tgc		plectin							73	87	83					8																	144993374		2053	4201	6254	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144993374G>A	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.11026C>T	8.37:g.144993374G>A	ENSP00000323856:p.Arg3676Cys					PLEC_ENST00000398774.2_Missense_Mutation_p.R3507C|PLEC_ENST00000345136.3_Missense_Mutation_p.R3539C|PLEC_ENST00000354589.3_Missense_Mutation_p.R3539C|PLEC_ENST00000354958.2_Missense_Mutation_p.R3517C|PLEC_ENST00000436759.2_Missense_Mutation_p.R3566C|PLEC_ENST00000356346.3_Missense_Mutation_p.R3525C|PLEC_ENST00000527096.1_Missense_Mutation_p.R3562C|PLEC_ENST00000357649.2_Missense_Mutation_p.R3543C	p.R3676C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11195	-			3676			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11026C>T	CCDS43772.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.854	-0.237549	0.05944	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	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	4.72	2.67	0.31697	.	0.448841	0.19000	U	0.125371	T	0.36248	0.0960	N	0.03115	-0.41	0.40996	D	0.984897	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.26883	-1.0090	10	0.59425	D	0.04	.	2.1195	0.03723	0.3623:0.0:0.392:0.2457	.	3566;3525;3517;3676;3507;3539;3543;3539	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	3539;3543;3539;3507;3676;3517;3525;3566;3562	ENSP00000344848:R3539C;ENSP00000350277:R3543C;ENSP00000346602:R3539C;ENSP00000381756:R3507C;ENSP00000323856:R3676C;ENSP00000347044:R3517C;ENSP00000348702:R3525C;ENSP00000388180:R3566C;ENSP00000434583:R3562C	ENSP00000323856:R3676C	R	-	1	0	PLEC	145065362	0.756000	0.28383	0.916000	0.36221	0.053000	0.15095	2.222000	0.42926	1.111000	0.41721	0.448000	0.29417	CGC		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	1255	0	0	0	1	0	9	1255					A	144993374	G	A	144993374	3	1	105	1	0	0	0	0	1	0	0	0	12094	1087	38	1	3032	1	PLEC	8	144993374	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2764884	144993374	1370648	116	35606											
CDKN2A	1029	broad.mit.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	19	12	0	1	rs121913385		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		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.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17																	1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	c.(289-291)gCa>gTa		cyclin-dependent kinase inhibitor 2A							12	15	14					9																	21971111		2176	4259	6435	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971111G>A	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.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|RP11-145E5.5_ENST00000404796.2_Intron	p.A97V			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	582	-		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)	0		L -> R (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.290C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		53	69	0	0	0	1	0	53	69					A	21971111	G	A	21971111	3	1	105	1	0	0	0	0	1	0	0	0	3170	1319	46	2	231	2	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		21971111	119242320	117	35607											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	1100						7	1100	---	---	---	---	-	94172779	T	-	94172779	7	5	105	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	72201668	94172779	47040652	118	35608											
KIAA1529	100499483	broad.mit.edu	37	chr9	100132333	100132333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagatccgaggacagttcgAggaacagcagaagcggctgg	17	8	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:100132333A>G	ENST00000357054.1	+	44	5221	c.4286A>G	c.(4285-4287)gAg>gGg	p.E1429G	CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.E1484G|CCDC180_ENST00000529487.1_Missense_Mutation_p.E1484G			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1429						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GGACAGTTCGAGGAACAGCAG	0.542																																						ENST00000375202.2																			0											c.(4450-4452)gAg>gGg		coiled-coil domain containing 180							43	47	46					9																	100132333		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100132333A>G	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.4286A>G	9.37:g.100132333A>G	ENSP00000349562:p.Glu1429Gly					CCDC180_ENST00000529487.1_Missense_Mutation_p.E1484G|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.E1429G	p.E1484G							46	5803	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4451A>G		.	.	.	.	.	.	.	.	.	.	A	8.083	0.772887	0.16051	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.52295	0.67;0.67;0.67	5.31	-0.88	0.10610	.	1.068760	0.07166	N	0.851602	T	0.36744	0.0978	L	0.44542	1.39	0.09310	N	1	B;P	0.44816	0.131;0.844	B;B	0.42798	0.062;0.398	T	0.22556	-1.0213	10	0.23302	T	0.38	0.1363	4.1976	0.10450	0.4657:0.0:0.0953:0.439	.	1623;1429	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	G	1429;1484;1484	ENSP00000349562:E1429G;ENSP00000364348:E1484G;ENSP00000434727:E1484G	ENSP00000349562:E1429G	E	+	2	0	C9orf174	99172154	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.211000	0.09332	-0.311000	0.08754	0.533000	0.62120	GAG		0.542	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		47	106	0	0	0	1	0	47	106					G	100132333	A	G	100132333	3	3	105	1	0	0	0	0	1	0	0	0	8270	304	11	4	4416	4	KIAA1529	9	100132333	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	5959554	100132333	41081098	119	35609											
MURC	347273	broad.mit.edu	37	chr9	103340638	103340638	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ataaaatccgtccagattgaCctgttgaagctttcacagtc	7	10	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:103340638C>T	ENST00000307584.5	+	1	278	c.213C>T	c.(211-213)gaC>gaT	p.D71D	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	71					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				TCCAGATTGACCTGTTGAAGC	0.418																																						ENST00000307584.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16						c.(211-213)gaC>gaT		muscle-related coiled-coil protein							140	148	145					9																	103340638		2203	4300	6503	SO:0001819	synonymous_variant	347273				cell differentiation|muscle organ development|transcription, DNA-dependent			g.chr9:103340638C>T	BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.213C>T	9.37:g.103340638C>T							p.D71D	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN			1	278	+		Acute lymphoblastic leukemia(62;0.0461)	71					B1PRL3|B4DT88	Silent	SNP	ENST00000307584.5	37	c.213C>T	CCDS35083.1																																																																																				0.418	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116		12	481	0	0	0	1	0	12	481					T	103340638	C	T	103340638	2	4	105	1	0	0	0	0	0	0	0	1	10028	506	18	2		2	MURC	9	103340638	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3208305	103340638	37872793	120	35610											
TNC	3371	broad.mit.edu	37	chr9	117791711	117791711	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttttggtagaagttctcgcGtccgtttttgcgtctcagga	12	8	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:117791711G>A	ENST00000350763.4	-	25	6508	c.6097C>T	c.(6097-6099)Cgc>Tgc	p.R2033C	TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|TNC_ENST00000345230.3_Missense_Mutation_p.R1396C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2033	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						AAGTTCTCGCGTCCGTTTTTG	0.463																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6097-6099)Cgc>Tgc		tenascin C							174	156	162					9																	117791711		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117791711G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6097C>T	9.37:g.117791711G>A	ENSP00000265131:p.Arg2033Cys					TNC_ENST00000537320.1_Missense_Mutation_p.R1396C|TNC_ENST00000535648.1_Missense_Mutation_p.R1578C|TNC_ENST00000341037.4_Missense_Mutation_p.R1851C|TNC_ENST00000340094.3_Missense_Mutation_p.R1669C|TNC_ENST00000345230.3_Missense_Mutation_p.R1396C|TNC_ENST00000423613.2_Missense_Mutation_p.R1760C|TNC_ENST00000346706.3_Missense_Mutation_p.R1487C|TNC_ENST00000542877.1_Missense_Mutation_p.R1670C	p.R2033C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			25	6508	-			2033			Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6097C>T	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.182544|3.182544	0.57800|0.57800	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877|ENST00000544972	T;T;T;T;T;T;T;T;T|.	0.21031|.	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03|.	5.48|5.48	4.53|4.53	0.55603|0.55603	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);|.	0.340153|.	0.30401|.	N|.	0.009704|.	T|T	0.38054|0.38054	0.1026|0.1026	L|L	0.48362|0.48362	1.52|1.52	0.26177|0.26177	N|N	0.979773|0.979773	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.71414|.	0.973;0.93|.	T|T	0.32107|0.32107	-0.9919|-0.9919	10|5	0.72032|.	D|.	0.01|.	.|.	3.7527|3.7527	0.08573|0.08573	0.0839:0.1325:0.5337:0.2499|0.0839:0.1325:0.5337:0.2499	.|.	1760;2033|.	E9PC84;P24821|.	.;TENA_HUMAN|.	C|M	1669;1578;1487;1396;2033;1851;1760;1396;1670|595	ENSP00000344400:R1669C;ENSP00000438152:R1578C;ENSP00000344555:R1487C;ENSP00000345861:R1396C;ENSP00000265131:R2033C;ENSP00000339553:R1851C;ENSP00000411406:R1760C;ENSP00000443478:R1396C;ENSP00000442242:R1670C|.	ENSP00000344400:R1669C|.	R|T	-|-	1|2	0|0	TNC|TNC	116831532|116831532	0.934000|0.934000	0.31675|0.31675	0.986000|0.986000	0.45419|0.45419	0.442000|0.442000	0.32017|0.32017	4.235000|4.235000	0.58666|0.58666	2.587000|2.587000	0.87381|0.87381	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.463	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		13	501	0	0	0	1	0	13	501					A	117791711	G	A	117791711	3	1	105	1	0	0	0	0	1	0	0	0	16322	1145	40	1	524	1	TNC	9	117791711	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	14451073	117791711	23421720	121	35611											
OR1L4	254973	broad.mit.edu	37	chr9	125486388	125486388	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcatgtacctactcactgcGgtggggaatgtgctcatcat	10	10	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517																																						ENST00000259466.1																			1	Substitution - coding silent(1)	p.A40A(1)	lung(1)	breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(118-120)gcG>gcA		olfactory receptor, family 1, subfamily L, member 4							200	182	188					9																	125486388		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486388G>A		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.120G>A	9.37:g.125486388G>A							p.A40A	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	120	+			40					Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.120G>A	CCDS35129.1																																																																																				0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			12	604	0	0	0	1	0	12	604					A	125486388	G	A	125486388	2	1	105	1	0	0	0	0	0	0	0	1	11007	1103	39	1		1	OR1L4	9	125486388	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7694677	125486388	15727043	122	35612											
GOLGA1	2800	broad.mit.edu	37	chr9	127644234	127644234	+	Splice_Site	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tcattatcgggtctgattttCtgaaaaaccagtgggaaaga	10	6	3	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:127644234C>T	ENST00000373555.4	-	21	2299		c.e21-1			NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1						protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTCTGATTTTCTGAAAAACCA	0.493																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.e21-1		golgin A1							87	86	86					9																	127644234		2203	4300	6503	SO:0001630	splice_region_variant	2800					Golgi cisterna membrane		g.chr9:127644234C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"golgi autoantigen, golgin subfamily a, 1"			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1966-1G>A	9.37:g.127644234C>T								NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN			21	2299	-								Q5T164|Q8IYZ9	Splice_Site	SNP	ENST00000373555.4	37		CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633014	0.87660	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.051	0.93046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA1	126684055	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.772000	0.55325	2.745000	0.94114	0.655000	0.94253	.		0.493	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077	Intron	27	215	0	0	0	1	0	27	215					T	127644234	C	T	127644234	5	4	105	1	0	0	0	0	0	0	1	0	6580	927	32	2	350	2	GOLGA1	9	127644234	Splice_Site	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2157846	127644234	13569197	123	35613											
REXO4	57109	broad.mit.edu	37	chr9	136282883	136282883	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tttcttcttgtttttcttccGagtgagcgtcttgacaggac	9	9	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:136282883G>A	ENST00000371942.3	-	1	281	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.R28W	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	28					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTTCTTCCGAGTGAGCGTC	0.612																																						ENST00000371942.3																			0				kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(82-84)Cgg>Tgg		REX4, RNA exonuclease 4 homolog (S. cerevisiae)							79	87	84					9																	136282883		2203	4300	6503	SO:0001583	missense	57109					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	g.chr9:136282883G>A	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.82C>T	9.37:g.136282883G>A	ENSP00000361010:p.Arg28Trp					REXO4_ENST00000371935.2_Missense_Mutation_p.R28W|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron	p.R28W	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)	1	281	-			28					B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Missense_Mutation	SNP	ENST00000371942.3	37	c.82C>T	CCDS6969.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861056	0.32884	.	.	ENSG00000148300	ENST00000453165;ENST00000371942;ENST00000371935;ENST00000454825	T;T	0.21543	2.0;2.07	3.93	0.308	0.15815	.	1.450310	0.04735	N	0.421779	T	0.41880	0.1178	M	0.63843	1.955	0.09310	N	0.999998	D;D	0.89917	1.0;0.999	D;P	0.72075	0.976;0.891	T	0.19289	-1.0310	10	0.66056	D	0.02	-8.8689	7.0347	0.24987	0.0:0.1441:0.4354:0.4205	.	28;28	Q9GZR2-2;Q9GZR2	.;REXO4_HUMAN	W	13;28;28;28	ENSP00000403272:R13W;ENSP00000361010:R28W	ENSP00000361003:R28W	R	-	1	2	REXO4	135272704	0.199000	0.23386	0.048000	0.18961	0.689000	0.40095	0.243000	0.18106	-0.230000	0.09840	0.555000	0.69702	CGG		0.612	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054899.1			8	699	0	0	0	1	0	8	699					A	136282883	G	A	136282883	3	1	105	1	0	0	0	0	1	0	0	0	13293	1057	37	1	1218	1	REXO4	9	136282883	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	8638649	136282883	4930548	124	35614											
GLT6D1	360203	broad.mit.edu	37	chr9	138516323	138516326	+	Frame_Shift_Del	DEL	CATG	CATG	-													gtgttcacccaggctcttcaCatgcaccagggggccatcga					rs112815437		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:138516323_138516326delCATG	ENST00000371763.1	-	5	701_704	c.448_451delCATG	c.(448-453)catgtgfs	p.HV150fs		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	150					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGGCTCTTCACATGCACCAGGGGG	0.564																																						ENST00000371763.1																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15						c.(448-453)tgfs		glycosyltransferase 6 domain containing 1																																				SO:0001589	frameshift_variant	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516323_138516326delCATG	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.448_451delCATG	9.37:g.138516323_138516326delCATG	ENSP00000360829:p.His150fs						p.HV150fs	NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	701_704	-		Myeloproliferative disorder(178;0.0821)	150						Frame_Shift_Del	DEL	ENST00000371763.1	37	c.448_451delCATG	CCDS43900.1																																																																																				0.564	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		7	191						7	191	---	---	---	---	-	138516326	CATG	-	138516323	7	5	105	1	0	1	0	1	0	0	0	0	6497	478	17	0	383	0	GLT6D1	9	138516323	Frame_Shift_Del	DEL	CATG	TCGA-OE-A75W-01A-12D-A32N-08	2233440	138516323	2697108	125	35615											
NOTCH1	4851	broad.mit.edu	37	chr9	139412298	139412298	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcgttgacgtcgatctcGcatcgggggcccgtgtagcc	13	14	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr9:139412298G>A	ENST00000277541.6	-	8	1422	c.1347C>T	c.(1345-1347)tgC>tgT	p.C449C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	449	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCGATCTCGCATCGGGGGC	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"T, Mis, O"	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1345-1347)tgC>tgT		notch 1							51	58	56					9																	139412298		2180	4271	6451	SO:0001819	synonymous_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412298G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1347C>T	9.37:g.139412298G>A		HNSCC(8;0.001)					p.C449C	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1422	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	449			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.1347C>T	CCDS43905.1																																																																																				0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		97	281	0	0	0	1	0	97	281					A	139412298	G	A	139412298	2	1	105	1	0	0	0	0	0	0	0	1	10589	1079	38	1		1	NOTCH1	9	139412298	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	895975	139412298	1801133	126	35616											
PRKCQ	5588	broad.mit.edu	37	chr10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatcagtgctctgtcgGcaaatgacagccggggcttc	13	10	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:6470257G>A	ENST00000263125.5	-	18	2132	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	678	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TGCTCTGTCGGCAAATGACAG	0.458																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(2032-2034)gCc>gTc		protein kinase C, theta							204	213	210					10																	6470257		2203	4300	6503	SO:0001583	missense	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6470257G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.2033C>T	10.37:g.6470257G>A	ENSP00000263125:p.Ala678Val					PRKCQ_ENST00000539722.1_Missense_Mutation_p.A553V|PRKCQ_ENST00000397176.2_Missense_Mutation_p.A615V	p.A678V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			18	2132	-			678			AGC-kinase C-terminal.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	c.2033C>T	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.563|7.563	0.665173|0.665173	0.14710|0.14710	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.57107|.	0.42;0.42;0.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);|.	0.239518|.	0.42294|.	D|.	0.000736|.	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.02665|0.02665	-0.54|-0.54	0.20074|0.20074	N|N	0.999935|0.999935	B;B;P;B|.	0.40553|.	0.01;0.041;0.721;0.032|.	B;B;P;B|.	0.45310|.	0.006;0.009;0.476;0.028|.	T|T	0.16512|0.16512	-1.0400|-1.0400	10|5	0.14252|.	T|.	0.57|.	.|.	15.5307|15.5307	0.75960|0.75960	0.0:0.1384:0.8616:0.0|0.0:0.1384:0.8616:0.0	.|.	553;450;615;678|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	V|S	678;615;553|451	ENSP00000263125:A678V;ENSP00000380361:A615V;ENSP00000441752:A553V|.	ENSP00000263125:A678V|.	A|P	-|-	2|1	0|0	PRKCQ|PRKCQ	6510263|6510263	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.066000|0.066000	0.16364|0.16364	5.083000|5.083000	0.64456|0.64456	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	GCC|CCG		0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		9	1311	0	0	0	1	0	9	1311					A	6470257	G	A	6470257	3	1	105	1	0	0	0	0	1	0	0	0	12562	1203	42	2	91	2	PRKCQ	10	6470257	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		6470257	129064490	127	35617											
KIAA1217	56243	broad.mit.edu	37	chr10	24825794	24825794	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgttaaagacactaggtcggGcgccacagtgccacccaagg	12	13	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:24825794G>A	ENST00000376454.3	+	17	3536	c.3506G>A	c.(3505-3507)gGc>gAc	p.G1169D	KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.G852D|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1169					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						ACTAGGTCGGGCGCCACAGTG	0.512																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(2554-2556)gGc>gAc		KIAA1217							94	80	85					10																	24825794		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24825794G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3506G>A	10.37:g.24825794G>A	ENSP00000365637:p.Gly1169Asp					KIAA1217_ENST00000458595.1_Missense_Mutation_p.G1134D|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G852D|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G1169D|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G1133D|KIAA1217_ENST00000307544.6_Missense_Mutation_p.G852D|KIAA1217_ENST00000396446.1_Intron	p.G852D			Q5T5P2	SKT_HUMAN			12	2815	+			1169					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.2555G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814941	0.50527	.	.	ENSG00000120549	ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451	T;T;T;T;T;T	0.56275	1.1;1.47;1.08;0.54;0.47;0.97	5.62	4.66	0.58398	.	0.130328	0.51477	D	0.000091	T	0.66684	0.2814	M	0.68593	2.085	0.45662	D	0.998584	D;D;D;D;D;D	0.89917	0.996;1.0;0.999;0.999;0.968;0.999	P;D;D;D;P;D	0.75020	0.9;0.974;0.985;0.963;0.733;0.964	T	0.66736	-0.5848	10	0.51188	T	0.08	.	10.0223	0.42051	0.0:0.1282:0.6268:0.2451	.	1134;1133;852;852;852;1169	Q5T5P2-7;A6NLF3;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2	.;.;.;.;.;SKT_HUMAN	D	1134;852;1169;1133;852;852;852;852	ENSP00000392625:G1134D;ENSP00000365637:G1169D;ENSP00000365635:G1133D;ENSP00000302343:G852D;ENSP00000379722:G852D;ENSP00000365634:G852D	ENSP00000302343:G852D	G	+	2	0	KIAA1217	24865800	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	4.623000	0.61247	2.646000	0.89796	0.655000	0.94253	GGC		0.512	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		6	316	0	0	0	1	0	6	316					A	24825794	G	A	24825794	3	1	105	1	0	0	0	0	1	0	0	0	8246	1203	42	2	3572	2	KIAA1217	10	24825794	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	18355537	24825794	110708953	128	35618											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431019	37431019	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctagggaaattatgagtccCgcaaaagaaacatctgagaa	9	8	1	3	rs199969776		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:37431019C>T	ENST00000602533.1	+	7	1125	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	ANKRD30A_ENST00000374660.1_Silent_p.P342P|ANKRD30A_ENST00000361713.1_Silent_p.P342P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	398					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						TTATGAGTCCCGCAAAAGAAA	0.433																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1024-1026)ccC>ccT		ankyrin repeat domain 30A							107	105	106					10																	37431019		1830	4085	5915	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37431019C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1026C>T	10.37:g.37431019C>T						ANKRD30A_ENST00000602533.1_Silent_p.P342P|ANKRD30A_ENST00000361713.1_Silent_p.P342P	p.P342P			Q9BXX3	AN30A_HUMAN			7	1125	+			398					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1026C>T																																																																																					0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	473	0	0	0	1	0	5	473					T	37431019	C	T	37431019	2	4	105	1	0	0	0	0	0	0	0	1	658	639	23	1		1	ANKRD30A	10	37431019	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	12605225	37431019	98103728	129	35619											
RBP3	5949	broad.mit.edu	37	chr10	48387865	48387865	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aatgcggtccttggcattctCagggatatgggctgccttca	12	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:48387865C>A	ENST00000224600.4	-	1	3126	c.3013G>T	c.(3013-3015)Gag>Tag	p.E1005*	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1005	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TTGGCATTCTCAGGGATATGG	0.597																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3013-3015)Gag>Tag		retinol binding protein 3, interstitial	Vitamin A(DB00162)						101	107	105					10																	48387865		2203	4300	6503	SO:0001587	stop_gained	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387865C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3013G>T	10.37:g.48387865C>A	ENSP00000224600:p.Glu1005*						p.E1005*	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	3126	-			1005			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Nonsense_Mutation	SNP	ENST00000224600.4	37	c.3013G>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	41	8.782886	0.98952	.	.	ENSG00000107618	ENST00000224600	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.6072	18.5233	0.90962	0.0:1.0:0.0:0.0	.	.	.	.	X	1005	.	ENSP00000224600:E1005X	E	-	1	0	RBP3	48007871	1.000000	0.71417	0.941000	0.38009	0.901000	0.52897	4.906000	0.63293	2.640000	0.89533	0.655000	0.94253	GAG		0.597	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		7	648	1	0	0.000157383	1	0.000161782	7	648					A	48387865	C	A	48387865	4	1	105	1	0	0	0	0	0	1	0	0	13207	835	29	3	746	3	RBP3	10	48387865	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	10956846	48387865	87146882	130	35620											
ERCC6	2074	broad.mit.edu	37	chr10	50678629	50678629	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaatttgaacattccccaTttccactaatcactgacaac	3	12	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:50678629T>C	ENST00000355832.5	-	18	3455	c.3377A>G	c.(3376-3378)aAt>aGt	p.N1126S	ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1126					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						ACATTCCCCATTTCCACTAAT	0.393								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3376-3378)aAt>aGt	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							151	142	145					10																	50678629		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678629T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3377A>G	10.37:g.50678629T>C	ENSP00000348089:p.Asn1126Ser					ERCC6_ENST00000542458.1_Missense_Mutation_p.N496S|RP11-123B3.2_ENST00000423283.1_RNA	p.N1126S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			18	3455	-			1126					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3377A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486713	0.26686	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82344	-1.6;-1.33	5.95	2.33	0.28932	.	.	.	.	.	T	0.71290	0.3322	L	0.38175	1.15	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.06405	0.002;0.001	T	0.51474	-0.8701	9	0.11794	T	0.64	-1.9129	8.1179	0.30955	0.0:0.2339:0.0:0.7661	.	1126;503	Q03468;Q59FF6	ERCC6_HUMAN;.	S	1126;503;496	ENSP00000348089:N1126S;ENSP00000445134:N496S	ENSP00000348089:N1126S	N	-	2	0	ERCC6	50348635	0.007000	0.16637	0.006000	0.13384	0.404000	0.30871	1.437000	0.34991	0.152000	0.19188	0.533000	0.62120	AAT		0.393	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		13	603	0	0	0	1	0	13	603					C	50678629	T	C	50678629	3	2	105	1	0	0	0	0	1	0	0	0	5235	1493	52	4	1120	4	ERCC6	10	50678629	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	2290764	50678629	84856118	131	35621											
PCDH15	65217	broad.mit.edu	37	chr10	55570351	55570351	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctcagcttcaccaaCcacctcaccatattcctcct	1	19	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:55570351C>A	ENST00000373965.2	-	35	4862	c.4468G>T	c.(4468-4470)Gtt>Ttt	p.V1490F	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				GCTTCACCAACCACCTCACCA	0.373										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.(4468-4470)Gtt>Ttt		protocadherin-related 15							180	165	170					10																	55570351		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55570351C>A	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	ENST00000373965.2:c.4468G>T	10.37:g.55570351C>A	ENSP00000363076:p.Val1490Phe	HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.V1490F|PCDH15_ENST00000409834.1_Missense_Mutation_p.W1117C|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V1487F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.W1506C	p.V1490F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			35	4862	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4468G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.760384|2.760384	0.49468|0.49468	.|.	.|.	ENSG00000150275|ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395445|ENST00000395438;ENST00000409834	T;T;T|T;T	0.63096|0.58358	0.03;0.14;-0.02|0.38;0.34	6.16|6.16	4.3|4.3	0.51218|0.51218	.|.	.|.	.|.	.|.	.|.	T|T	0.31796|0.31796	0.0808|0.0808	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B|B	0.34103|0.02656	0.437;0.437;0.437;0.437|0.0	B;B;B;B|B	0.26770|0.04013	0.073;0.073;0.073;0.073|0.001	T|T	0.06698|0.06698	-1.0812|-1.0812	9|9	0.62326|0.45353	D|T	0.03|0.12	.|.	10.6203|10.6203	0.45476|0.45476	0.0:0.7929:0.134:0.0731|0.0:0.7929:0.134:0.0731	.|.	1488;1490;1481;1487|1506	C6ZEF5;A2A3E2;C6ZEF7;C9J4F3|A2A3E3	.;.;.;.|.	F|C	1490;1487;1483;1490|1506;1117	ENSP00000363076:V1490F;ENSP00000410304:V1487F;ENSP00000378832:V1490F|ENSP00000378826:W1506C;ENSP00000386693:W1117C	ENSP00000363076:V1490F|ENSP00000378826:W1506C	V|W	-|-	1|3	0|0	PCDH15|PCDH15	55240357|55240357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.440000|1.440000	0.35024|0.35024	0.907000|0.907000	0.36646|0.36646	0.650000|0.650000	0.86243|0.86243	GTT|TGG		0.373	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		126	472	1	0	2.22849e-83	1	2.40271e-83	126	472					A	55570351	C	A	55570351	3	1	105	1	0	0	0	0	1	0	0	0	11553	508	18	3	1452	3	PCDH15	10	55570351	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4891722	55570351	79964396	132	35622											
TMEM26	219623	broad.mit.edu	37	chr10	63170318	63170318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaggaagttcttcgcgGcaaagaacaccagcatctga	10	12	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	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																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(868-870)gCc>gTc		transmembrane protein 26							103	108	107					10																	63170318		2114	4229	6343	SO:0001583	missense	219623					integral to membrane		g.chr10:63170318G>A	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					TMEM26_ENST00000507507.1_5'UTR	p.A290V	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1237	-	Prostate(12;0.0112)		290					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.869C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	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		0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		5	247	0	0	0	1	0	5	247					A	63170318	G	A	63170318	3	1	105	1	0	0	0	0	1	0	0	0	16203	1203	42	2	241	2	TMEM26	10	63170318	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	7599967	63170318	72364429	133	35623											
CYP2C8	1558	broad.mit.edu	37	chr10	96802653	96802653	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agaaacaagcttaccttgggGatgaggtagtttctgaactt	11	6	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:96802653G>T	ENST00000371270.3	-	7	1237	c.1143C>A	c.(1141-1143)atC>atA	p.I381I	CYP2C8_ENST00000535898.1_Silent_p.I279I|CYP2C8_ENST00000539050.1_Silent_p.I295I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	381					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TTACCTTGGGGATGAGGTAGT	0.453																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1141-1143)atC>atA		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						181	164	170					10																	96802653		2203	4300	6503	SO:0001819	synonymous_variant	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802653G>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1143C>A	10.37:g.96802653G>T						CYP2C8_ENST00000535898.1_Silent_p.I279I|CYP2C8_ENST00000539050.1_Silent_p.I295I	p.I381I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1237	-		Colorectal(252;0.0397)	381					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	c.1143C>A	CCDS7438.1																																																																																				0.453	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		14	406	1	0	7.93312e-07	1	8.20582e-07	14	406					T	96802653	G	T	96802653	2	4	105	1	0	0	0	0	0	0	0	1	4178	1164	41	3		3	CYP2C8	10	96802653	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	33632335	96802653	38732094	134	35624											
CCDC147	159686	broad.mit.edu	37	chr10	106118265	106118265	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttatgacaatgaaaagcGtctgatggccaaatgcagag	11	7	2	4	rs534892585		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:106118265G>A	ENST00000369704.3	+	2	310	c.176G>A	c.(175-177)cGt>cAt	p.R59H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		59						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)		AATGAAAAGCGTCTGATGGCC	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18364	0.0		0.001	False		,,,				2504	0.0					ENST00000369704.3																			0				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						c.(175-177)cGt>cAt		coiled-coil domain containing 147							79	71	74					10																	106118265		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106118265G>A																												ENST00000369704.3:c.176G>A	10.37:g.106118265G>A	ENSP00000358718:p.Arg59His					CCDC147_ENST00000312902.5_5'UTR	p.R59H	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	2	310	+		Colorectal(252;0.103)|Breast(234;0.122)	59					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.176G>A	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288041	0.80803	.	.	ENSG00000120051	ENST00000369704	T	0.37058	1.22	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.91090	3.175	0.80722	D	1	P	0.46020	0.871	B	0.42214	0.38	T	0.62718	-0.6795	10	0.52906	T	0.07	-6.117	15.0736	0.72059	0.0699:0.0:0.9301:0.0	.	59	Q5T655	CC147_HUMAN	H	59	ENSP00000358718:R59H	ENSP00000358718:R59H	R	+	2	0	CCDC147	106108255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.732000	0.74790	2.785000	0.95823	0.655000	0.94253	CGT		0.423	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			24	291	0	0	0	1	0	24	291					A	106118265	G	A	106118265	3	1	105	1	0	0	0	0	1	0	0	0	2788	1145	40	1	182	1	CCDC147	10	106118265	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	9315612	106118265	29416482	135	35625											
ATRNL1	26033	broad.mit.edu	37	chr10	117154220	117154220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatctgcacacaggaaaatGtttctgcacaactaaaggaa	7	9	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr10:117154220G>A	ENST00000355044.3	+	20	3353	c.3227G>A	c.(3226-3228)tGt>tAt	p.C1076Y	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1076	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		ACAGGAAAATGTTTCTGCACA	0.343																																						ENST00000355044.3																			0				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						c.(3226-3228)tGt>tAt		attractin-like 1							144	132	136					10																	117154220		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117154220G>A	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.3227G>A	10.37:g.117154220G>A	ENSP00000347152:p.Cys1076Tyr					ATRNL1_ENST00000423111.2_Missense_Mutation_p.C127Y|ATRNL1_ENST00000303745.7_5'UTR	p.C1076Y	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	20	3353	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1076			Laminin EGF-like 2.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3227G>A	CCDS7592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976281|3.976281	0.74360|0.74360	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.62105|.	0.05;0.05|.	5.61|5.61	5.61|5.61	0.85477|0.85477	EGF-like, laminin (1);|.	0.087453|.	0.85682|.	D|.	0.000000|.	D|D	0.86531|0.86531	0.5955|0.5955	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	D;D|.	0.78314|.	0.991;0.991|.	D|D	0.89807|0.89807	0.3979|0.3979	10|5	0.87932|.	D|.	0|.	-20.6284|-20.6284	15.1377|15.1377	0.72583|0.72583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	127;1076|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	Y|I	1076;127|159	ENSP00000347152:C1076Y;ENSP00000409624:C127Y|.	ENSP00000347152:C1076Y|.	C|M	+|+	2|3	0|0	ATRNL1|ATRNL1	117144210|117144210	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.632000|7.632000	0.83247|0.83247	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	TGT|ATG		0.343	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		79	194	0	0	0	1	0	79	194					A	117154220	G	A	117154220	3	1	105	1	0	0	0	0	1	0	0	0	1208	1377	48	2	3305	2	ATRNL1	10	117154220	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11035955	117154220	18380527	136	35626											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	18	8	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76	89	84					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		6	786	0	0	0	1	0	6	786					G	281566	A	G	281566	3	3	105	1	0	0	0	0	1	0	0	0	10523	304	11	4	1846	4	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08		281566	134724950	137	35627											
PTDSS2	81490	broad.mit.edu	37	chr11	473950	473950	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttggagtcacacaagctaaaGacgggccattttccagacct	9	11	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:473950G>A	ENST00000308020.5	+	3	516	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	114					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)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	ACAAGCTAAAGACGGGCCATT	0.483																																						ENST00000308020.5																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(340-342)Gac>Aac		phosphatidylserine synthase 2	Phosphatidylserine(DB00144)						324	252	276					11																	473950		2203	4300	6503	SO:0001583	missense	81490					integral to membrane		g.chr11:473950G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.340G>A	11.37:g.473950G>A	ENSP00000308258:p.Asp114Asn					PTDSS2_ENST00000530087.1_3'UTR	p.D114N	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	3	516	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	114						Missense_Mutation	SNP	ENST00000308020.5	37	c.340G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281337	0.80692	.	.	ENSG00000174915	ENST00000308020	.	.	.	5.12	5.12	0.69794	.	0.059306	0.64402	D	0.000003	T	0.33147	0.0853	N	0.11341	0.13	0.58432	D	0.999999	P	0.38617	0.64	B	0.32465	0.146	T	0.20107	-1.0285	9	0.30078	T	0.28	-23.8077	17.6882	0.88262	0.0:0.0:1.0:0.0	.	114	Q9BVG9	PTSS2_HUMAN	N	114	.	ENSP00000308258:D114N	D	+	1	0	PTDSS2	463950	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.943000	0.92975	2.545000	0.85829	0.462000	0.41574	GAC		0.483	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			168	482	0	0	0	1	0	168	482					A	473950	G	A	473950	3	1	105	1	0	0	0	0	1	0	0	0	12784	942	33	2	350	2	PTDSS2	11	473950	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	192384	473950	134532566	138	35628											
OR51A2	401667	broad.mit.edu	37	chr11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatactatccctatttgggCaactctgacagttgtcagga	9	9	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, 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)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		CCTATTTGGGCAACTCTGACA	0.423																																						ENST00000380371.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(430-432)Gcc>Acc		olfactory receptor, family 51, subfamily A, member 2							111	83	93					11																	4976514		2037	3775	5812	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976514C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.430G>A	11.37:g.4976514C>T	ENSP00000369729:p.Ala144Thr					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.A144T	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	429	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	144						Missense_Mutation	SNP	ENST00000380371.1	37	c.430G>A	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.509	1.105347	0.20632	.	.	ENSG00000205496	ENST00000380371	T	0.37752	1.18	3.13	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23054	0.0557	L	0.43598	1.365	0.09310	N	1	B	0.19583	0.037	B	0.24006	0.05	T	0.28996	-1.0026	9	0.28530	T	0.3	.	3.2793	0.06909	0.4379:0.2384:0.0:0.3237	.	144	Q8NGJ7	O51A2_HUMAN	T	144	ENSP00000369729:A144T	ENSP00000369729:A144T	A	-	1	0	OR51A2	4933090	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.391000	0.00068	-1.068000	0.03156	0.395000	0.25975	GCC		0.423	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		72	1046	0	0	0	1	0	72	1046					T	4976514	C	T	4976514	3	4	105	1	0	0	0	0	1	0	0	0	11128	710	25	2	513	2	OR51A2	11	4976514	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	4502564	4976514	130030002	139	35629											
OR56A3	390083	broad.mit.edu	37	chr11	5969286	5969286	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagactcaaggcagagggtgCcgtggcaaaggccctaagca	15	10	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:5969286C>T	ENST00000329564.6	+	1	717	c.710C>T	c.(709-711)gCc>gTc	p.A237V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237D(1)		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)		GCAGAGGGTGCCGTGGCAAAG	0.522																																						ENST00000329564.6																			1	Substitution - Missense(1)	p.A237D(1)	lung(1)	endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(709-711)gCc>gTc		olfactory receptor, family 56, subfamily A, member 3							216	210	212					11																	5969286		2189	4294	6483	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969286C>T		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.710C>T	11.37:g.5969286C>T	ENSP00000331572:p.Ala237Val						p.A237V	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	717	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	237					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.710C>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710879	0.30322	.	.	ENSG00000184478	ENST00000329564	T	0.00145	8.67	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.00580	0.0019	M	0.92880	3.355	0.18873	N	0.999986	D	0.58620	0.983	D	0.65233	0.933	T	0.30822	-0.9965	10	0.72032	D	0.01	-25.5832	13.2016	0.59772	0.1598:0.8401:0.0:0.0	.	237	Q8NH54	O56A3_HUMAN	V	237	ENSP00000331572:A237V	ENSP00000331572:A237V	A	+	2	0	OR56A3	5925862	0.000000	0.05858	0.159000	0.22649	0.009000	0.06853	0.044000	0.13992	2.687000	0.91594	0.650000	0.86243	GCC		0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		7	867	0	0	0	1	0	7	867					T	5969286	C	T	5969286	3	4	105	1	0	0	0	0	1	0	0	0	11176	739	26	2	712	2	OR56A3	11	5969286	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	992772	5969286	129037230	140	35630											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				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)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	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.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.66	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		9	465						9	465	---	---	---	---	-	30034031	TGG	-	30034029	7	5	105	1	0	1	0	1	0	0	0	0	8035	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-OE-A75W-01A-12D-A32N-08	24064743	30034029	104972487	141	35631											
SHANK2	22941	broad.mit.edu	37	chr11	70333392	70333392	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgcctggcgggcttggcgggGacgtagacggctttgctggc	19	11	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:70333392G>A	ENST00000423696.2	-	15	1905	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	SHANK2_ENST00000449833.2_Silent_p.V407V|SHANK2_ENST00000409161.1_Silent_p.V406V|SHANK2_ENST00000338508.4_Silent_p.V1003V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	623					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)			GCTTGGCGGGGACGTAGACGG	0.617																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3007-3009)gtC>gtT		SH3 and multiple ankyrin repeat domains 2							116	124	122					11																	70333392		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333392G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1869C>T	11.37:g.70333392G>A						SHANK2_ENST00000423696.2_Silent_p.V623V|SHANK2_ENST00000449833.2_Silent_p.V407V|SHANK2_ENST00000409161.1_Silent_p.V406V	p.V1003V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	3008	-			623					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.3009C>T																																																																																					0.617	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		11	1078	0	0	0	1	0	11	1078					A	70333392	G	A	70333392	2	1	105	1	0	0	0	0	0	0	0	1	14315	1161	41	2		2	SHANK2	11	70333392	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	40299363	70333392	64673124	142	35632											
NADSYN1	55191	broad.mit.edu	37	chr11	71194032	71194032	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcccaggagacgtgcaccCgggccagagagttggcccag	14	15	0	2	rs149234649		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:71194032C>T	ENST00000319023.2	+	14	1476	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	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)	p.R430M(1)		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)	GACGTGCACCCGGGCCAGAGA	0.607																																					Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			1	Substitution - Missense(1)	p.R430M(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1288-1290)Cgg>Tgg		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C	TRP/ARG	0,4400		0,0,2200	97	87	90		1288	-1.9	0	11	dbSNP_134	90	3,8585	3.0+/-9.4	0,3,4291	yes	missense	NADSYN1	NM_018161.4	101	0,3,6491	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	430/707	71194032	3,12985	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71194032C>T	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.1288C>T	11.37:g.71194032C>T	ENSP00000326424:p.Arg430Trp					NADSYN1_ENST00000539574.1_Missense_Mutation_p.R170W|NADSYN1_ENST00000530055.1_Missense_Mutation_p.R59W|NADSYN1_ENST00000526039.2_3'UTR	p.R430W	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			14	1476	+			430			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1288C>T	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400419	0.42613	0.0	3.49E-4	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000529840;ENST00000530055	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.06	-1.88	0.07713	NAD/GMP synthase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.69061	0.3069	H	0.94808	3.585	0.49798	D	0.999826	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	T	0.73780	-0.3875	10	0.87932	D	0	-26.347	12.5193	0.56050	0.3856:0.6144:0.0:0.0	.	170;430	B3KUU4;Q6IA69	.;NADE_HUMAN	W	430;170;59;59	ENSP00000326424:R430W;ENSP00000443718:R170W;ENSP00000437172:R59W;ENSP00000431820:R59W	ENSP00000326424:R430W	R	+	1	2	NADSYN1	70871680	0.927000	0.31430	0.007000	0.13788	0.216000	0.24613	0.660000	0.25009	-0.610000	0.05716	-0.397000	0.06425	CGG		0.607	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		39	359	0	0	0	1	0	39	359					T	71194032	C	T	71194032	3	4	105	1	0	0	0	0	1	0	0	0	10179	643	23	1	1342	1	NADSYN1	11	71194032	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	860640	71194032	63812484	143	35633											
ME3	10873	broad.mit.edu	37	chr11	86158183	86158183	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagggcaaagatgatagggCgctcgtggaaggaggccatg	17	7	1	2	rs15926		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:86158183C>T	ENST00000393324.3	-	11	1557	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.R435H|ME3_ENST00000543262.1_Missense_Mutation_p.R435H	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	435					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)				GATGATAGGGCGCTCGTGGAA	0.622																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(1303-1305)cGc>cAc		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						80	73	76					11																	86158183		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86158183C>T	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.1304G>A	11.37:g.86158183C>T	ENSP00000376998:p.Arg435His					RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.R435H|ME3_ENST00000393324.3_Missense_Mutation_p.R435H	p.R435H	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			12	1630	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	435					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.1304G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025030	0.35701	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.38	3.42	0.39159	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098256	0.64402	N	0.000002	T	0.48926	0.1527	M	0.81802	2.56	0.80722	D	1	B	0.19331	0.035	B	0.21546	0.035	T	0.43343	-0.9397	9	.	.	.	.	11.3629	0.49655	0.0:0.845:0.0:0.155	.	435	Q16798	MAON_HUMAN	H	435	ENSP00000352657:R435H;ENSP00000440246:R435H;ENSP00000376998:R435H;ENSP00000431182:R435H	.	R	-	2	0	ME3	85835831	1.000000	0.71417	0.997000	0.53966	0.096000	0.18686	3.210000	0.51129	0.683000	0.31428	-0.355000	0.07637	CGC		0.622	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			103	195	0	0	0	1	0	103	195					T	86158183	C	T	86158183	3	4	105	1	0	0	0	0	1	0	0	0	9460	768	27	1	526	1	ME3	11	86158183	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14964151	86158183	48848333	144	35634											
KIAA1377	57562	broad.mit.edu	37	chr11	101833633	101833633	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caaaggaaaaaggtgcagaaAttccaaagaccattaaaaaa	7	6	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:101833633A>T	ENST00000263468.8	+	6	2137	c.1867A>T	c.(1867-1869)Att>Ttt	p.I623F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	623										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGGTGCAGAAATTCCAAAGAC	0.318																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(1867-1869)Att>Ttt		KIAA1377							33	37	35					11																	101833633		2201	4295	6496	SO:0001583	missense	57562						protein binding	g.chr11:101833633A>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1867A>T	11.37:g.101833633A>T	ENSP00000263468:p.Ile623Phe					KIAA1377_ENST00000537689.1_Missense_Mutation_p.I424F	p.I623F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2137	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	623					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1867A>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.953067	0.34471	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08807	3.05;3.05	5.42	4.26	0.50523	.	0.353806	0.27206	N	0.020421	T	0.19446	0.0467	M	0.68317	2.08	0.33432	D	0.581278	D	0.53151	0.958	P	0.54312	0.748	T	0.22556	-1.0213	10	0.48119	T	0.1	-7.3063	12.5825	0.56397	0.8611:0.1389:0.0:0.0	.	623	Q9P2H0	K1377_HUMAN	F	623;424	ENSP00000263468:I623F;ENSP00000443184:I424F	ENSP00000263468:I623F	I	+	1	0	KIAA1377	101338843	0.995000	0.38212	0.784000	0.31847	0.115000	0.19883	3.384000	0.52478	0.952000	0.37798	0.459000	0.35465	ATT		0.318	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		55	149	0	0	0	1	0	55	149					T	101833633	A	T	101833633	3	4	105	1	0	0	0	0	1	0	0	0	8257	101	4	5	1889	5	KIAA1377	11	101833633	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	15675450	101833633	33172883	145	35635											
ELMOD1	55531	broad.mit.edu	37	chr11	107506439	107506439	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgtggaaaaactgcGtagagaggcctatgattctg	13	6	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:107506439G>A	ENST00000265840.7	+	6	633	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	123					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GAAAAACTGCGTAGAGAGGCC	0.433																																						ENST00000265840.7																			0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(367-369)cGt>cAt		ELMO/CED-12 domain containing 1							154	144	147					11																	107506439		1887	4121	6008	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107506439G>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.368G>A	11.37:g.107506439G>A	ENSP00000265840:p.Arg123His					ELMOD1_ENST00000531234.1_Missense_Mutation_p.R117H|ELMOD1_ENST00000443271.2_Missense_Mutation_p.R123H	p.R123H	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	6	633	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	123					B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.368G>A	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318541	0.95682	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	T;T;T	0.33865	1.39;1.39;1.39	5.57	5.57	0.84162	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.65154	0.2664	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.66337	-0.5949	10	0.56958	D	0.05	.	19.918	0.97070	0.0:0.0:1.0:0.0	.	123;123	Q8N336;G5E9S5	ELMD1_HUMAN;.	H	117;123;123	ENSP00000433232:R117H;ENSP00000265840:R123H;ENSP00000412257:R123H	ENSP00000265840:R123H	R	+	2	0	ELMOD1	107011649	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.989000	0.93506	2.785000	0.95823	0.591000	0.81541	CGT		0.433	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		7	258	0	0	0	1	0	7	258					A	107506439	G	A	107506439	3	1	105	1	0	0	0	0	1	0	0	0	5086	1145	40	1	386	1	ELMOD1	11	107506439	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	5672806	107506439	27500077	146	35636											
DPAGT1	1798	broad.mit.edu	37	chr11	118967854	118967856	+	In_Frame_Del	DEL	GCA	GCA	-													ctcgattcccatcctcacctGcagcagcagcaggagcaatg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:118967854_118967856delGCA	ENST00000409993.2	-	10	2708_2710	c.1157_1159delTGC	c.(1156-1161)ctgcag>cag	p.L386del	H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000432443.2_In_Frame_Del_p.L279del|DPAGT1_ENST00000354202.4_In_Frame_Del_p.L386del			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	386					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATCCTCACCTGCAGCAGCAGCAG	0.488																																						ENST00000409993.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17						c.(1156-1161)cag>c		dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)																																				SO:0001651	inframe_deletion	1798				dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	g.chr11:118967854_118967856delGCA	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1157_1159delTGC	11.37:g.118967863_118967865delGCA	ENSP00000386597:p.Leu386del					DPAGT1_ENST00000354202.4_In_Frame_Del_p.LQ386del|DPAGT1_ENST00000432443.2_In_Frame_Del_p.LQ279del	p.LQ386del			Q9H3H5	GPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	10	2708_2710	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	386					O15216|Q86WV9|Q9BWE6	In_Frame_Del	DEL	ENST00000409993.2	37	c.1157_1159delTGC	CCDS8411.1																																																																																				0.488	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		7	589						7	589	---	---	---	---	-	118967856	GCA	-	118967854	7	5	105	1	0	1	0	1	0	0	0	0	4726	1328	46	0	75	0	DPAGT1	11	118967854	In_Frame_Del	DEL	GCA	TCGA-OE-A75W-01A-12D-A32N-08	11461415	118967854	16038662	147	35637											
ACRV1	56	broad.mit.edu	37	chr11	125548083	125548083	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagaagtctcatataaAgcctcagcatcagaagggtt	9	9	3	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr11:125548083A>G	ENST00000533904.1	-	2	504	c.162T>C	c.(160-162)gcT>gcC	p.A54A	ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000315608.3_Silent_p.A54A|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000527795.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000425431.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	54					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TCTCATATAAAGCCTCAGCAT	0.463																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(160-162)gcT>gcC		acrosomal vesicle protein 1							67	62	64					11																	125548083		2201	4299	6500	SO:0001819	synonymous_variant	56				multicellular organismal development	acrosomal vesicle		g.chr11:125548083A>G	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"sperm protein 10"	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.162T>C	11.37:g.125548083A>G						ACRV1_ENST00000433875.1_Silent_p.A54A|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000257382.2_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000348856.3_Intron	p.A54A			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	504	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	54					Q53FF4	Silent	SNP	ENST00000533904.1	37	c.162T>C	CCDS8460.1																																																																																				0.463	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		79	223	0	0	0	1	0	79	223					G	125548083	A	G	125548083	2	3	105	1	0	0	0	0	0	0	0	1	172	59	3	4		4	ACRV1	11	125548083	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	6580229	125548083	9458433	148	35638											
NTF3	4908	broad.mit.edu	37	chr12	5603958	5603958	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaacaatatttttatgaaaCgcgatgtaaggaagccaggc	9	7	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:5603958C>T	ENST00000331010.6	+	1	661	c.578C>T	c.(577-579)aCg>aTg	p.T193M	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.T206M	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	193					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TTTTATGAAACGCGATGTAAG	0.507																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(616-618)aCg>aTg		neurotrophin 3							55	55	55					12																	5603958		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603958C>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.578C>T	12.37:g.5603958C>T	ENSP00000328738:p.Thr193Met					NTF3_ENST00000331010.6_Missense_Mutation_p.T193M|NTF3_ENST00000535299.1_Intron	p.T206M	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	829	+			193					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.617C>T	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155349	0.78114	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.73681	-0.77;-0.77	5.45	5.45	0.79879	Nerve growth factor-related (5);	0.000000	0.85682	D	0.000000	D	0.87665	0.6234	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89132	0.3510	10	0.87932	D	0	-33.1613	18.2818	0.90101	0.0:1.0:0.0:0.0	.	193;206	P20783;B7Z1T5	NTF3_HUMAN;.	M	206;193	ENSP00000397297:T206M;ENSP00000328738:T193M	ENSP00000328738:T193M	T	+	2	0	NTF3	5474219	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.583000	0.87209	0.650000	0.86243	ACG		0.507	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			27	270	0	0	0	1	0	27	270					T	5603958	C	T	5603958	3	4	105	1	0	0	0	0	1	0	0	0	10738	536	19	1	623	1	NTF3	12	5603958	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		5603958	128247937	149	35639											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000440277.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	10	94						10	94	---	---	---	---	C	7080213	-	C	7080212	8	5	105	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-OE-A75W-01A-12D-A32N-08	1476254	7080212	126771683	150	35640											
LRP6	4040	broad.mit.edu	37	chr12	12300383	12300383	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctatcaagggctaaagcaAttggtttacttaagccactg	9	8	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:12300383A>G	ENST00000261349.4	-	15	3390	c.3314T>C	c.(3313-3315)aTt>aCt	p.I1105T	LRP6_ENST00000543091.1_Missense_Mutation_p.I1105T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1105	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGCTAAAGCAATTGGTTTACT	0.453																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3313-3315)aTt>aCt		low density lipoprotein receptor-related protein 6							125	127	126					12																	12300383		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12300383A>G	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.3314T>C	12.37:g.12300383A>G	ENSP00000261349:p.Ile1105Thr					LRP6_ENST00000543091.1_Missense_Mutation_p.I1105T	p.I1105T	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			15	3390	-		Prostate(47;0.0865)	1105			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3314T>C	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	7.457	0.643887	0.14451	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.95588	-3.75;-3.75	5.69	5.69	0.88448	Six-bladed beta-propeller, TolB-like (1);	0.519638	0.17309	U	0.178962	D	0.84338	0.5450	N	0.00569	-1.365	0.50171	D	0.999857	B;B	0.15141	0.007;0.012	B;B	0.23419	0.046;0.036	T	0.81077	-0.1096	10	0.11182	T	0.66	.	15.9477	0.79806	1.0:0.0:0.0:0.0	.	1105;1105	F5H7J9;O75581	.;LRP6_HUMAN	T	1105	ENSP00000261349:I1105T;ENSP00000442472:I1105T	ENSP00000261349:I1105T	I	-	2	0	LRP6	12191650	0.964000	0.33143	0.960000	0.40013	0.960000	0.62799	8.962000	0.93254	2.179000	0.69175	0.460000	0.39030	ATT		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			180	491	0	0	0	1	0	180	491					G	12300383	A	G	12300383	3	3	105	1	0	0	0	0	1	0	0	0	9000	101	4	4	1563	4	LRP6	12	12300383	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	5220171	12300383	121551512	151	35641											
GUCY2C	2984	broad.mit.edu	37	chr12	14766211	14766211	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaattctgcttgcaaaCgctgttgattctccctggaa	8	10	2	2	rs118078831	byFrequency	TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:14766211C>T	ENST00000261170.3	-	27	3198	c.3062G>A	c.(3061-3063)cGt>cAt	p.R1021H	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1021					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGCTTGCAAACGCTGTTGATT	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		19834	0.002		0.0	False		,,,				2504	0.0					ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(3061-3063)cGt>cAt		guanylate cyclase 2C (heat stable enterotoxin receptor)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	155	164	161		3062	4.8	1	12	dbSNP_133	161	1,8599		0,1,4299	yes	missense	GUCY2C	NM_004963.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	1021/1074	14766211	2,13004	2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14766211C>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3062G>A	12.37:g.14766211C>T	ENSP00000261170:p.Arg1021His					RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	p.R1021H	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			27	3198	-			1021					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.3062G>A	CCDS8664.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.52	2.560274	0.45590	2.27E-4	1.16E-4	ENSG00000070019	ENST00000261170	D	0.81659	-1.52	5.85	4.78	0.61160	.	0.209202	0.48767	D	0.000168	T	0.73265	0.3565	L	0.39147	1.195	0.58432	D	0.999994	B	0.25272	0.122	B	0.20955	0.032	T	0.70346	-0.4897	10	0.42905	T	0.14	.	14.7732	0.69696	0.0:0.8799:0.0:0.1201	.	1021	P25092	GUC2C_HUMAN	H	1021	ENSP00000261170:R1021H	ENSP00000261170:R1021H	R	-	2	0	GUCY2C	14657478	0.984000	0.35163	0.979000	0.43373	0.997000	0.91878	2.584000	0.46102	2.773000	0.95371	0.655000	0.94253	CGT		0.413	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			7	705	0	0	0	1	0	7	705					T	14766211	C	T	14766211	3	4	105	1	0	0	0	0	1	0	0	0	6926	536	19	1	163	1	GUCY2C	12	14766211	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2465828	14766211	119085684	152	35642											
CASC1	55259	broad.mit.edu	37	chr12	25308303	25308306	+	Frame_Shift_Del	DEL	AATA	AATA	-													cttcaggaaaacacctctctAataaataaagttcttcaagt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25308303_25308306delAATA	ENST00000320267.9	-	4	302_305	c.221_224delTATT	c.(220-225)ttattafs	p.LL74fs	CASC1_ENST00000395987.3_Frame_Shift_Del_p.LL80fs|CASC1_ENST00000354189.5_Frame_Shift_Del_p.LL138fs|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000545133.1_Frame_Shift_Del_p.LL15fs|CASC1_ENST00000395990.2_Frame_Shift_Del_p.LL34fs	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	74	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ACACCTCTCTAATAAATAAAGTTC	0.338																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(412-417)tafs		cancer susceptibility candidate 1																																				SO:0001589	frameshift_variant	55259							g.chr12:25308303_25308306delAATA	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.221_224delTATT	12.37:g.25308307_25308310delAATA	ENSP00000313141:p.Leu74fs					CASC1_ENST00000395987.3_Frame_Shift_Del_p.LL80fs|CASC1_ENST00000395990.2_Frame_Shift_Del_p.LL34fs|CASC1_ENST00000320267.9_Frame_Shift_Del_p.LL74fs|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Frame_Shift_Del_p.LL15fs|CASC1_ENST00000537577.1_5'UTR	p.LL138fs	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		5	448_451	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		74					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Frame_Shift_Del	DEL	ENST00000320267.9	37	c.413_416delTATT	CCDS41762.1																																																																																				0.338	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		36	154						36	154	---	---	---	---	-	25308306	AATA	-	25308303	7	5	105	1	0	1	0	1	0	0	0	0	2667	372	13	0	1974	0	CASC1	12	25308303	Frame_Shift_Del	DEL	AATA	TCGA-OE-A75W-01A-12D-A32N-08	10542092	25308303	108543592	153	35643											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		30	63	0	0	0	1	0	30	63					T	25398284	C	T	25398284	3	4	105	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	89981	25398284	108453611	154	35644											
PPFIBP1	8496	broad.mit.edu	37	chr12	27832529	27832529	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agataccgcctccatctccaGattccaaaaagaaatccaga	5	13	1	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:27832529G>C	ENST00000318304.8	+	19	2024	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	581					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCCATCTCCAGATTCCAAAAA	0.443																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(1741-1743)Gat>Cat		PTPRF interacting protein, binding protein 1 (liprin beta 1)							125	132	130					12																	27832529		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27832529G>C	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1741G>C	12.37:g.27832529G>C	ENSP00000314724:p.Asp581His					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.D550H|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.D428H|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.D575H	p.D581H	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			19	2024	+	Lung SC(9;0.0873)		581					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.1741G>C	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808956	0.90707	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.8	5.8	0.92144	.	0.000000	0.35096	U	0.003459	D	0.87030	0.6076	L	0.59436	1.845	0.80722	D	1	D;D;D;P;D	0.89917	0.999;1.0;0.999;0.886;0.996	D;D;D;P;D	0.91635	0.981;0.999;0.928;0.847;0.967	D	0.87005	0.2119	10	0.66056	D	0.02	-23.4066	19.6581	0.95851	0.0:0.0:1.0:0.0	.	428;412;581;575;550	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4	.;.;LIPB1_HUMAN;.;.	H	412;428;581;550;575	ENSP00000444304:D412H;ENSP00000445425:D428H;ENSP00000314724:D581H;ENSP00000443442:D550H;ENSP00000228425:D575H	ENSP00000228425:D575H	D	+	1	0	PPFIBP1	27723796	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.039000	0.76544	2.735000	0.93741	0.655000	0.94253	GAT		0.443	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		9	658	0	0	0	1	0	9	658					C	27832529	G	C	27832529	3	2	105	1	0	0	0	0	1	0	0	0	12355	942	33	5	1835	5	PPFIBP1	12	27832529	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2434245	27832529	106019366	155	35645											
PTHLH	5744	broad.mit.edu	37	chr12	28116642	28116642	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaggaagaatcgtcgccGtaaatcttggatggacttcc	12	8	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:28116642G>A	ENST00000545234.1	-	5	703	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	PTHLH_ENST00000538310.1_Missense_Mutation_p.R55W|PTHLH_ENST00000354417.3_Missense_Mutation_p.R55W|PTHLH_ENST00000539239.1_Missense_Mutation_p.R55W|PTHLH_ENST00000201015.4_Missense_Mutation_p.R55W|PTHLH_ENST00000395868.3_Missense_Mutation_p.R55W|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Missense_Mutation_p.R55W|PTHLH_ENST00000535992.1_Missense_Mutation_p.R55W			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	55					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AATCGTCGCCGTAAATCTTGG	0.468																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(163-165)Cgg>Tgg		parathyroid hormone-like hormone							145	144	145					12																	28116642		2203	4300	6503	SO:0001583	missense	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116642G>A		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"Endogenous ligands"	9607	protein-coding gene	gene with protein product	"osteostatin", "parathyroid hormone-like hormone preproprotein", "parathyroid hormone-related protein preproprotein"	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.163C>T	12.37:g.28116642G>A	ENSP00000441765:p.Arg55Trp					PTHLH_ENST00000539239.1_Missense_Mutation_p.R55W|PTHLH_ENST00000538310.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395868.3_Missense_Mutation_p.R55W|PTHLH_ENST00000201015.4_Missense_Mutation_p.R55W|PTHLH_ENST00000354417.3_Missense_Mutation_p.R55W|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000545234.1_Missense_Mutation_p.R55W|PTHLH_ENST00000395872.1_Missense_Mutation_p.R55W	p.R55W			P12272	PTHR_HUMAN			3	509	-	Lung SC(9;0.184)		55					Q15251|Q6FH74	Missense_Mutation	SNP	ENST00000545234.1	37	c.163C>T	CCDS44853.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534678	0.64972	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.65	3.77	0.43336	.	0.123571	0.56097	D	0.000036	D	0.88819	0.6540	L	0.58101	1.795	0.48040	D	0.999574	D	0.89917	1.0	D	0.97110	1.0	D	0.89006	0.3425	10	0.87932	D	0	-21.5477	13.9819	0.64310	0.0:0.0:0.7235:0.2765	.	55	P12272	PTHR_HUMAN	W	55;55;55;55;55;55;55;55;55;63	ENSP00000379213:R55W;ENSP00000441571:R55W;ENSP00000441765:R55W;ENSP00000441890:R55W;ENSP00000346398:R55W;ENSP00000201015:R55W;ENSP00000440613:R55W;ENSP00000379209:R55W;ENSP00000444519:R55W;ENSP00000445157:R63W	ENSP00000201015:R55W	R	-	1	2	PTHLH	28007909	1.000000	0.71417	0.071000	0.20095	0.941000	0.58515	3.005000	0.49521	0.692000	0.31613	-0.188000	0.12872	CGG		0.468	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		7	775	0	0	0	1	0	7	775					A	28116642	G	A	28116642	3	1	105	1	0	0	0	0	1	0	0	0	12809	1144	40	1	382	1	PTHLH	12	28116642	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	284113	28116642	105735253	156	35646											
NELL2	4753	broad.mit.edu	37	chr12	45169879	45169879	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggttcccttcatggtgcaagTcctttcacaatagcactgat	8	11	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45169879T>A	ENST00000429094.2	-	8	1321	c.817A>T	c.(817-819)Act>Tct	p.T273S	NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000333837.4_Missense_Mutation_p.T296S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S|NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S|NELL2_ENST00000452445.2_Missense_Mutation_p.T273S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	273	VWFC 1. {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)		ATGGTGCAAGTCCTTTCACAA	0.458																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(817-819)Act>Tct		NEL-like 2 (chicken)							179	150	159					12																	45169879		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45169879T>A	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.817A>T	12.37:g.45169879T>A	ENSP00000390680:p.Thr273Ser					NELL2_ENST00000333837.4_Missense_Mutation_p.T296S|NELL2_ENST00000452445.2_Missense_Mutation_p.T273S|NELL2_ENST00000437801.2_Missense_Mutation_p.T323S|NELL2_ENST00000551601.1_Missense_Mutation_p.T272S|NELL2_ENST00000395487.2_Missense_Mutation_p.T272S|NELL2_ENST00000549027.1_Missense_Mutation_p.T272S	p.T273S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	8	1321	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	273			VWFC 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.817A>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935303	0.34189	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	T;T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.61	5.61	0.85477	von Willebrand factor, type C (1);	0.050756	0.85682	D	0.000000	T	0.38878	0.1057	N	0.13003	0.285	0.52099	D	0.999945	B;B;B;B;B;B	0.30824	0.01;0.296;0.045;0.036;0.027;0.185	B;B;B;B;B;B	0.24006	0.003;0.05;0.038;0.012;0.017;0.034	T	0.34428	-0.9829	10	0.10111	T	0.7	-16.8894	10.9681	0.47424	0.1394:0.0:0.0:0.8606	.	296;323;272;273;273;272	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	S	272;273;272;273;272;296;323;272;46;273	ENSP00000378866:T272S;ENSP00000390680:T273S;ENSP00000449332:T272S;ENSP00000394612:T273S;ENSP00000447927:T272S;ENSP00000327988:T296S;ENSP00000416341:T323S;ENSP00000450102:T46S;ENSP00000447085:T273S	ENSP00000327988:T296S	T	-	1	0	NELL2	43456146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.818000	0.69236	2.137000	0.66172	0.528000	0.53228	ACT		0.458	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		65	209	0	0	0	1	0	65	209					A	45169879	T	A	45169879	3	1	105	1	0	0	0	0	1	0	0	0	10376	1667	58	5	1685	5	NELL2	12	45169879	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	17053237	45169879	88682016	157	35647											
ANO6	196527	broad.mit.edu	37	chr12	45814920	45814920	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actactggtccttctccgtcCctccctacggggaccacact	7	18	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:45814920C>T	ENST00000320560.8	+	18	2486	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000435642.1_Missense_Mutation_p.P762S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	762					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						CTTCTCCGTCCCTCCCTACGG	0.473																																						ENST00000320560.8																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(2284-2286)Cct>Tct		anoctamin 6							185	156	166					12																	45814920		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45814920C>T	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2284C>T	12.37:g.45814920C>T	ENSP00000320087:p.Pro762Ser					ANO6_ENST00000423947.3_Missense_Mutation_p.P783S|ANO6_ENST00000425752.2_Missense_Mutation_p.P762S|ANO6_ENST00000441606.2_Missense_Mutation_p.P744S|ANO6_ENST00000435642.1_Missense_Mutation_p.P762S|ANO6_ENST00000426898.2_3'UTR	p.P762S	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN			18	2486	+			762					A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2284C>T	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759155	0.31137	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69435	-0.4;-0.27;-0.4;-0.26;-0.26	5.05	5.05	0.67936	.	0.319688	0.35151	N	0.003416	T	0.55784	0.1942	L	0.34521	1.04	0.46798	D	0.999205	B;B;B;B	0.27068	0.008;0.055;0.167;0.006	B;B;B;B	0.23018	0.019;0.02;0.031;0.043	T	0.51718	-0.8670	10	0.13853	T	0.58	.	19.2834	0.94061	0.0:1.0:0.0:0.0	.	744;783;762;762	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	S	762;783;762;762;744	ENSP00000391417:P762S;ENSP00000409126:P783S;ENSP00000413840:P762S;ENSP00000320087:P762S;ENSP00000413137:P744S	ENSP00000320087:P762S	P	+	1	0	ANO6	44101187	0.996000	0.38824	0.803000	0.32268	0.219000	0.24729	3.992000	0.56980	2.717000	0.92951	0.650000	0.86243	CCT		0.473	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		132	304	0	0	0	1	0	132	304					T	45814920	C	T	45814920	3	4	105	1	0	0	0	0	1	0	0	0	701	623	22	2	2374	2	ANO6	12	45814920	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	645041	45814920	88036975	158	35648											
RAPGEF3	10411	broad.mit.edu	37	chr12	48134500	48134500	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagacacagctcggtgGccacccagtactgcagctca	12	14	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:48134500G>A	ENST00000449771.2	-	21	2244	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.A677V			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	719	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CAGCTCGGTGGCCACCCAGTA	0.652																																						ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(2029-2031)gCc>gTc		Rap guanine nucleotide exchange factor (GEF) 3							41	50	47					12																	48134500		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48134500G>A	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.2156C>T	12.37:g.48134500G>A	ENSP00000395708:p.Ala719Val					RAPGEF3_ENST00000548919.1_Missense_Mutation_p.A628V|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.A677V|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.A677V|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.A719V|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.A719V	p.A677V	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	21	2239	-	Lung SC(27;0.192)		677					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.2030C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452324	0.43531	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	3.82	2.9	0.33743	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.148106	0.44688	D	0.000440	T	0.16342	0.0393	N	0.16368	0.405	0.35502	D	0.799909	B	0.33841	0.428	B	0.38106	0.265	T	0.14144	-1.0483	10	0.02654	T	1	.	9.7478	0.40457	0.1057:0.0:0.8943:0.0	.	719	O95398	RPGF3_HUMAN	V	677;719;366;677;677;677;719;682;628	ENSP00000384521:A677V;ENSP00000395708:A719V;ENSP00000448619:A677V;ENSP00000171000:A677V;ENSP00000373864:A719V;ENSP00000448480:A628V	ENSP00000171000:A677V	A	-	2	0	RAPGEF3	46420767	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.182000	0.32029	1.870000	0.54199	0.561000	0.74099	GCC		0.652	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		5	351	0	0	0	1	0	5	351					A	48134500	G	A	48134500	3	1	105	1	0	0	0	0	1	0	0	0	13095	1203	42	2	647	2	RAPGEF3	12	48134500	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2319580	48134500	85717395	159	35649											
PRPF40B	25766	broad.mit.edu	37	chr12	50027673	50027675	+	In_Frame_Del	DEL	CAG	CAG	-													tctggctcatctgcaggaaaCagcagcagcagctgccacag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:50027673_50027675delCAG	ENST00000380281.1	+	9	608_610	c.544_546delCAG	c.(544-546)cagdel	p.Q185del	PRPF40B_ENST00000261897.1_In_Frame_Del_p.Q179del|PRPF40B_ENST00000548825.2_In_Frame_Del_p.Q207del			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	185					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						CTGCAGGAAACAGCAGCAGCAGC	0.64																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(526-528)del		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)																																				SO:0001651	inframe_deletion	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50027673_50027675delCAG	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.544_546delCAG	12.37:g.50027682_50027684delCAG	ENSP00000369634:p.Gln185del					PRPF40B_ENST00000548825.2_In_Frame_Del_p.Q207del|PRPF40B_ENST00000380281.1_In_Frame_Del_p.Q185del	p.Q179del			Q6NWY9	PR40B_HUMAN			9	1077_1079	+			185					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	In_Frame_Del	DEL	ENST00000380281.1	37	c.526_528delCAG																																																																																					0.64	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		9	659						9	659	---	---	---	---	-	50027675	CAG	-	50027673	7	5	105	1	0	1	0	1	0	0	0	0	12619	479	17	0	578	0	PRPF40B	12	50027673	In_Frame_Del	DEL	CAG	TCGA-OE-A75W-01A-12D-A32N-08	1893173	50027673	83824222	160	35650											
GALNT6	11226	broad.mit.edu	37	chr12	51749736	51749736	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gtccctctgagttgtgtactCaaagtactggaaatcaagac	9	9	3	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:51749736C>G	ENST00000543196.2	-	10	1814	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	537	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)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GTTGTGTACTCAAAGTACTGG	0.547																																						ENST00000543196.2																			0				endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1609-1611)Gag>Cag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)							126	107	114					12																	51749736		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51749736C>G	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1609G>C	12.37:g.51749736C>G	ENSP00000444171:p.Glu537Gln					GALNT6_ENST00000356317.3_Missense_Mutation_p.E537Q	p.E537Q			Q8NCL4	GALT6_HUMAN			10	1814	-			537			Ricin B-type lectin.		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1609G>C	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729653	0.69074	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26810	1.71;1.71	3.92	3.92	0.45320	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54629	-0.8265	10	0.27082	T	0.32	.	15.908	0.79445	0.0:1.0:0.0:0.0	.	537	Q8NCL4	GALT6_HUMAN	Q	537;537;518	ENSP00000444171:E537Q;ENSP00000348668:E537Q	ENSP00000348668:E537Q	E	-	1	0	GALNT6	50036003	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	7.378000	0.79679	2.485000	0.83878	0.655000	0.94253	GAG		0.547	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		7	416	0	0	0	1	0	7	416					G	51749736	C	G	51749736	3	3	105	1	0	0	0	0	1	0	0	0	6245	835	29	5	267	5	GALNT6	12	51749736	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1722063	51749736	82102159	161	35651											
HOXC11	3227	broad.mit.edu	37	chr12	54367152	54367152	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gttgcacttactacatgcccGagttctccacggtctcctcc	7	16	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:54367152G>A	ENST00000546378.1	+	1	243	c.127G>A	c.(127-129)Gag>Aag	p.E43K	HOTAIR_ENST00000424518.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	43					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	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)			large_intestine(1)|ovary(1)	2						CTACATGCCCGAGTTCTCCAC	0.642			T	NUP98	AML																																	ENST00000546378.1				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(127-129)Gag>Aag		homeobox C11							114	119	117					12																	54367152		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367152G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.127G>A	12.37:g.54367152G>A	ENSP00000446680:p.Glu43Lys					HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43K	p.E43K			O43248	HXC11_HUMAN			1	243	+			43					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.127G>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433131	0.83776	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.49432	0.78;0.78	4.47	4.47	0.54385	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.052375	0.85682	D	0.000000	T	0.55955	0.1953	L	0.54323	1.7	0.58432	D	0.999998	P	0.51791	0.948	P	0.51999	0.687	T	0.61569	-0.7036	10	0.72032	D	0.01	.	16.4268	0.83817	0.0:0.0:1.0:0.0	.	43	O43248	HXC11_HUMAN	K	43	ENSP00000446680:E43K;ENSP00000243082:E43K	ENSP00000243082:E43K	E	+	1	0	HOXC11	52653419	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	9.227000	0.95236	2.471000	0.83476	0.561000	0.74099	GAG		0.642	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			16	825	0	0	0	1	0	16	825					A	54367152	G	A	54367152	3	1	105	1	0	0	0	0	1	0	0	0	7340	1059	37	1	129	1	HOXC11	12	54367152	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2617416	54367152	79484743	162	35652											
SLC39A5	283375	broad.mit.edu	37	chr12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-													gcctcccttctcccctatccCtgctgctgctgcggctcctg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(691-693)del		solute carrier family 39 (zinc transporter), member 5																																				SO:0001651	inframe_deletion	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628997_56628999delCTG		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.691_693delCTG	12.37:g.56629006_56629008delCTG	ENSP00000266980:p.Leu234del					SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	984_986	+			234					B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	37	c.691_693delCTG	CCDS8912.2																																																																																				0.635	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		7	1146						7	1146	---	---	---	---	-	56628999	CTG	-	56628997	7	5	105	1	0	1	0	1	0	0	0	0	14671	680	24	0	705	0	SLC39A5	12	56628997	In_Frame_Del	DEL	CTG	TCGA-OE-A75W-01A-12D-A32N-08	2261845	56628997	77222898	163	35653											
LRIG3	121227	broad.mit.edu	37	chr12	59267907	59267907	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaatctaaagaggacttgttTagacacagatttttcattcc	6	7	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:59267907T>A	ENST00000320743.3	-	18	3331	c.3045A>T	c.(3043-3045)ctA>ctT	p.L1015L	LRIG3_ENST00000379141.4_Silent_p.L955L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1015					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)			AGGACTTGTTTAGACACAGAT	0.408			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3043-3045)ctA>ctT		leucine-rich repeats and immunoglobulin-like domains 3							76	78	77					12																	59267907		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59267907T>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3045A>T	12.37:g.59267907T>A						LRIG3_ENST00000379141.4_Silent_p.L955L	p.L1015L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		18	3331	-			1015					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.3045A>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	T	7.635	0.679659	0.14907	.	.	ENSG00000139263	ENST00000550825	.	.	.	5.63	-9.02	0.00741	.	.	.	.	.	.	.	.	.	.	.	0.26728	N	0.97065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2731	0.43493	0.0:0.3257:0.4744:0.1999	.	.	.	.	X	117	.	.	K	-	1	0	LRIG3	57554174	0.386000	0.25180	0.082000	0.20525	0.229000	0.25112	-0.728000	0.04925	-2.026000	0.00934	-0.417000	0.06048	AAA		0.408	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		15	313	0	0	0	1	0	15	313					A	59267907	T	A	59267907	2	1	105	1	0	0	0	0	0	0	0	1	8984	1741	61	5		5	LRIG3	12	59267907	Silent	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	2638910	59267907	74583988	164	35654											
MGAT4C	25834	broad.mit.edu	37	chr12	86374022	86374022	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcaataatatggtgcGcaaatttctgtgtaatatcc	7	8	1	0	rs140499591		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:86374022G>A	ENST00000604798.1	-	8	1686	c.482C>T	c.(481-483)gCg>gTg	p.A161V	MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	161					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AATATGGTGCGCAAATTTCTG	0.403																																						ENST00000604798.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(481-483)gCg>gTg		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	93	91	92		482	3.7	0.6	12	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense	MGAT4C	NM_013244.3	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	161/479	86374022	2,13004	2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374022G>A		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.482C>T	12.37:g.86374022G>A	ENSP00000474896:p.Ala161Val					MGAT4C_ENST00000549405.2_Missense_Mutation_p.A161V|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.A190V|MGAT4C_ENST00000548651.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000332156.1_Missense_Mutation_p.A161V|MGAT4C_ENST00000552808.2_Missense_Mutation_p.A161V	p.A161V			Q9UBM8	MGT4C_HUMAN			8	1686	-			161					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.482C>T	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293358	0.40594	2.27E-4	1.16E-4	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.58	3.67	0.42095	.	0.272302	0.36134	N	0.002770	D	0.88916	0.6567	M	0.66939	2.045	0.32647	N	0.519858	D;D	0.69078	0.997;0.997	P;P	0.62560	0.904;0.904	D	0.89173	0.3538	10	0.26408	T	0.33	-7.7201	12.7018	0.57038	0.0:0.1257:0.7434:0.1309	.	190;161	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	V	161;190;161;161;161;161;161	ENSP00000331664:A161V;ENSP00000376900:A190V;ENSP00000449022:A161V;ENSP00000446647:A161V;ENSP00000447253:A161V;ENSP00000449172:A161V	ENSP00000331664:A161V	A	-	2	0	MGAT4C	84898153	1.000000	0.71417	0.635000	0.29338	0.003000	0.03518	6.447000	0.73465	1.321000	0.45227	0.655000	0.94253	GCG		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		5	477	0	0	0	1	0	5	477					A	86374022	G	A	86374022	3	1	105	1	0	0	0	0	1	0	0	0	9588	1087	38	1	958	1	MGAT4C	12	86374022	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	27106115	86374022	47477873	165	35655											
TBX5	6910	broad.mit.edu	37	chr12	114839668	114839668	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatcatttccgtgcccacttCgtggaattttagccacagtt	8	11	1	0	rs104894377		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:114839668C>T	ENST00000310346.4	-	3	871	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	69					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)	p.E69K(1)		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)		GTGCCCACTTCGTGGAATTTT	0.463																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4																			1	Substitution - Missense(1)	p.E69K(1)	skin(1)	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	GRCh37	CM971436	TBX5	M	rs104894377	c.(205-207)Gaa>Aaa		T-box 5							178	144	156					12																	114839668		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114839668C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.205G>A	12.37:g.114839668C>T	ENSP00000309913:p.Glu69Lys					TBX5_ENST00000526441.1_Missense_Mutation_p.E69K|TBX5_ENST00000405440.2_Missense_Mutation_p.E69K|TBX5_ENST00000349716.5_Missense_Mutation_p.E19K|TBX5_ENST00000552726.1_5'UTR	p.E69K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	3	871	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		69					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.205G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642376	0.47153	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440;ENST00000526441	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	5.07	5.07	0.68467	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.105066	0.64402	D	0.000005	T	0.79678	0.4487	N	0.20401	0.57	0.80722	D	1	B;B	0.18310	0.027;0.013	B;B	0.17098	0.017;0.004	T	0.73681	-0.3906	10	0.22706	T	0.39	.	11.0049	0.47629	0.0:0.9151:0.0:0.0849	.	69;69	Q99593-2;Q99593	.;TBX5_HUMAN	K	19;69;69;69	ENSP00000337723:E19K;ENSP00000309913:E69K;ENSP00000384152:E69K;ENSP00000433292:E69K	ENSP00000309913:E69K	E	-	1	0	TBX5	113324051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.914000	0.69964	2.359000	0.80004	0.561000	0.74099	GAA		0.463	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		77	240	0	0	0	1	0	77	240					T	114839668	C	T	114839668	3	4	105	1	0	0	0	0	1	0	0	0	15713	893	31	1	1446	1	TBX5	12	114839668	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	28465646	114839668	19012227	166	35656											
CIT	11113	broad.mit.edu	37	chr12	120260706	120260706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcagtctctctttctggccGcacaacaagctttgaatcag	7	12	5	1	rs145804827		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:120260706G>A	ENST00000261833.7	-	9	1081	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	CIT_ENST00000392521.2_Silent_p.C343C	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTTCTGGCCGCACAACAAGC	0.388													A|||	1	0.000199681	0.0	0.0	5008	,	,		17060	0.0		0.001	False		,,,				2504	0.0					ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1027-1029)tgC>tgT		citron (rho-interacting, serine/threonine kinase 21)		A	,	1,4405	826.1+/-416.6	0,1,2202	100	94	96		1029,1029	4.6	1	12	dbSNP_134	96	8,8592	818.9+/-406.8	0,8,4292	no	coding-synonymous,coding-synonymous	CIT	NM_001206999.1,NM_007174.2	,	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	,	343/2070,343/2028	120260706	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120260706G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1029C>T	12.37:g.120260706G>A						CIT_ENST00000261833.7_Silent_p.C343C	p.C343C	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	9	1084	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	343			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.1029C>T	CCDS9192.1																																																																																				0.388	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		5	391	0	0	0	1	0	5	391					A	120260706	G	A	120260706	2	1	105	1	0	0	0	0	0	0	0	1	3447	1079	38	1		1	CIT	12	120260706	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	5421038	120260706	13591189	167	35657											
MORN3	283385	broad.mit.edu	37	chr12	122091031	122091031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggcctcgtcacggccaaagtCgatcatcgtcccgcatttgg	11	14	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122091031C>T	ENST00000355329.3	-	4	768	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	200						nucleus (GO:0005634)		p.D200Y(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CGGCCAAAGTCGATCATCGTC	0.607																																						ENST00000355329.3																			1	Substitution - Missense(1)	p.D200Y(1)	stomach(1)	breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(598-600)Gac>Aac		MORN repeat containing 3							51	42	45					12																	122091031		2203	4300	6503	SO:0001583	missense	283385							g.chr12:122091031C>T	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.598G>A	12.37:g.122091031C>T	ENSP00000347486:p.Asp200Asn						p.D200N	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	4	768	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		200					Q86YQ9	Missense_Mutation	SNP	ENST00000355329.3	37	c.598G>A	CCDS31917.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929149	0.92389	.	.	ENSG00000139714	ENST00000355329	T	0.74315	-0.83	4.86	4.86	0.63082	.	0.053142	0.64402	D	0.000001	D	0.83059	0.5172	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83861	0.0268	10	0.52906	T	0.07	.	17.952	0.89056	0.0:1.0:0.0:0.0	.	200	Q6PF18	MORN3_HUMAN	N	200	ENSP00000347486:D200N	ENSP00000347486:D200N	D	-	1	0	MORN3	120575414	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.215000	0.65241	2.422000	0.82143	0.561000	0.74099	GAC		0.607	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		5	179	0	0	0	1	0	5	179					T	122091031	C	T	122091031	3	4	105	1	0	0	0	0	1	0	0	0	9750	884	31	1	132	1	MORN3	12	122091031	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1830325	122091031	11760864	168	35658											
CLIP1	6249	broad.mit.edu	37	chr12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaaagcttttccgtggcgGtatacagagcctttatctcc	10	10	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:122825973G>A	ENST00000540338.1	-	10	1819	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000358808.2_Missense_Mutation_p.T582I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1744-1746)aCc>aTc		CAP-GLY domain containing linker protein 1							142	143	142					12																	122825973		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825973G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1778C>T	12.37:g.122825973G>A	ENSP00000439093:p.Thr593Ile					CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I	p.T582I	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1899	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		593					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1745C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727207	0.15439	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61627	2.74;0.69;0.69;0.7;0.69;0.09	5.37	0.13	0.14746	.	0.766493	0.13191	N	0.406706	T	0.23965	0.0580	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.18116	-1.0347	10	0.44086	T	0.13	3.1754	5.4745	0.16688	0.372:0.1308:0.4972:0.0	.	283;547;582;593	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	283;582;582;427;547;593;516	ENSP00000438743:T283I;ENSP00000303585:T582I;ENSP00000351665:T582I;ENSP00000445531:T547I;ENSP00000439093:T593I;ENSP00000437786:T516I	ENSP00000303585:T582I	T	-	2	0	CLIP1	121391926	0.848000	0.29623	0.000000	0.03702	0.566000	0.35808	2.612000	0.46343	0.033000	0.15463	0.561000	0.74099	ACC		0.458	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		8	855	0	0	0	1	0	8	855					A	122825973	G	A	122825973	3	1	105	1	0	0	0	0	1	0	0	0	3541	1261	44	2	2602	2	CLIP1	12	122825973	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	734942	122825973	11025922	169	35659											
PITPNM2	57605	broad.mit.edu	37	chr12	123470864	123470864	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccggtggctgtacttcagctGcgccaggtgggccgcgtagc	16	13	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:123470864G>A	ENST00000542749.1	-	24	3823	c.3760C>T	c.(3760-3762)Cag>Tag	p.Q1254*	PITPNM2_ENST00000280562.5_Nonsense_Mutation_p.Q1248*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*|PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1254					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)		TACTTCAGCTGCGCCAGGTGG	0.726																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(3742-3744)Cag>Tag		phosphatidylinositol transfer protein, membrane-associated 2							10	11	10					12																	123470864		2148	4240	6388	SO:0001587	stop_gained	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123470864G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3760C>T	12.37:g.123470864G>A	ENSP00000437611:p.Gln1254*					PITPNM2_ENST00000320201.4_Nonsense_Mutation_p.Q1254*|PITPNM2_ENST00000392428.1_Nonsense_Mutation_p.Q975*|PITPNM2_ENST00000542749.1_Nonsense_Mutation_p.Q1254*	p.Q1248*			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	25	3947	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9P271	Nonsense_Mutation	SNP	ENST00000542749.1	37	c.3742C>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	41	8.645874	0.98899	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	.	.	.	4.8	4.8	0.61643	.	0.071076	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-33.4146	18.4084	0.90542	0.0:0.0:1.0:0.0	.	.	.	.	X	1248;1254;975;1254	.	ENSP00000280562:Q1248X	Q	-	1	0	PITPNM2	122036817	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.611000	0.82962	2.664000	0.90586	0.561000	0.74099	CAG		0.726	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	73	0	0	0	1	0	4	73					A	123470864	G	A	123470864	4	1	105	1	0	0	0	0	0	1	0	0	11993	1328	46	2	293	2	PITPNM2	12	123470864	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	644891	123470864	10381031	170	35660											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		11	838	0	0	0	1	0	11	838					A	123780522	G	A	123780522	3	1	105	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	309658	123780522	10071373	171	35661											
DNAH10	196385	broad.mit.edu	37	chr12	124332557	124332557	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccggcccagcaggaaccgGcaaaaccgagaccaccaagg	12	16	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr12:124332557G>A	ENST00000409039.3	+	32	5535	c.5510G>A	c.(5509-5511)gGc>gAc	p.G1837D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1837	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(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)		GCAGGAACCGGCAAAACCGAG	0.552																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5509-5511)gGc>gAc		dynein, axonemal, heavy chain 10							95	102	100					12																	124332557		1975	4178	6153	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332557G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5510G>A	12.37:g.124332557G>A	ENSP00000386770:p.Gly1837Asp						p.G1837D	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5535	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1837			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5510G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201809	0.79015	.	.	ENSG00000197653	ENST00000409039	D	0.92099	-2.97	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	D	0.98043	0.9355	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99441	1.0938	10	0.87932	D	0	.	19.4428	0.94827	0.0:0.0:1.0:0.0	.	1837	Q8IVF4	DYH10_HUMAN	D	1837	ENSP00000386770:G1837D	ENSP00000386770:G1837D	G	+	2	0	DNAH10	122898510	1.000000	0.71417	0.998000	0.56505	0.218000	0.24690	9.853000	0.99521	2.598000	0.87819	0.555000	0.69702	GGC		0.552	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			7	728	0	0	0	1	0	7	728					A	124332557	G	A	124332557	3	1	105	1	0	0	0	0	1	0	0	0	4614	1203	42	2	5636	2	DNAH10	12	124332557	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	552035	124332557	9519338	172	35662											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20221309	20221309	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgcctaaaaagcagaggaatCaagacagaagcaaaagtgct	10	7	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:20221309C>G	ENST00000361479.5	+	3	1164	c.1096C>G	c.(1096-1098)Caa>Gaa	p.Q366E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	366					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)		GCAGAGGAATCAAGACAGAAG	0.502																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1096-1098)Caa>Gaa		M-phase phosphoprotein 8							48	49	48					13																	20221309		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20221309C>G	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.1096C>G	13.37:g.20221309C>G	ENSP00000355388:p.Gln366Glu					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q366E	p.Q366E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		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)	3	1164	+		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)	366					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1096C>G	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	8.005	0.756354	0.15846	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.35048	1.34;1.33	5.61	5.61	0.85477	.	1.796160	0.02353	N	0.076114	T	0.48077	0.1480	L	0.58101	1.795	0.41991	D	0.990848	P;B;P;B	0.41131	0.739;0.435;0.571;0.435	B;B;B;B	0.40782	0.34;0.15;0.225;0.152	T	0.49341	-0.8950	10	0.25106	T	0.35	.	19.6274	0.95684	0.0:1.0:0.0:0.0	.	366;366;366;366	F5H8H9;Q99549;Q99549-2;B3KS10	.;MPP8_HUMAN;.;.	E	366	ENSP00000414663:Q366E;ENSP00000355388:Q366E	ENSP00000355388:Q366E	Q	+	1	0	MPHOSPH8	19119309	1.000000	0.71417	0.852000	0.33557	0.180000	0.23129	4.294000	0.59043	2.634000	0.89283	0.585000	0.79938	CAA		0.502	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		39	115	0	0	0	1	0	39	115					G	20221309	C	G	20221309	3	3	105	1	0	0	0	0	1	0	0	0	9768	827	29	5	1106	5	MPHOSPH8	13	20221309	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		20221309	94948569	173	35663											
WASF3	10810	broad.mit.edu	37	chr13	27250862	27250863	+	Splice_Site	DEL	GT	GT	-													tccctgtccccagatactagGtgtgtgtgtgtcactgctcc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:27250862_27250863delGT	ENST00000335327.5	+	7	894		c.e7+1		WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3						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)		CAGATACTAGGTGTGTGTGTGT	0.475																																						ENST00000335327.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.e7+1		WAS protein family, member 3																																				SO:0001630	splice_region_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27250862_27250863delGT	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.716+1GT>-	13.37:g.27250872_27250873delGT						WASF3_ENST00000361042.4_Intron		NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	7	894	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)						O94974|Q86VQ2	Splice_Site	DEL	ENST00000335327.5	37		CCDS9318.1																																																																																				0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		Intron	11	407						11	407	---	---	---	---	-	27250863	GT	-	27250862	8	5	105	1	0	1	0	1	0	0	1	0	17308	1275	44	0	735	0	WASF3	13	27250862	Splice_Site	DEL	GT	TCGA-OE-A75W-01A-12D-A32N-08	7029553	27250862	87919016	174	35664											
SPG20	23111	broad.mit.edu	37	chr13	36886315	36886315	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtacagtttctgctgaaAcattgttaacgatgcattta	7	6	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:36886315A>G	ENST00000451493.1	-	8	1917	c.1700T>C	c.(1699-1701)gTt>gCt	p.V567A	SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000494062.2_Missense_Mutation_p.V567A|SPG20_ENST00000355182.4_Missense_Mutation_p.V567A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	567					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)		TTCTGCTGAAACATTGTTAAC	0.323																																						ENST00000451493.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1699-1701)gTt>gCt		spastic paraplegia 20 (Troyer syndrome)							95	103	100					13																	36886315		2203	4300	6503	SO:0001583	missense	23111				cell death	cytoplasm	ubiquitin protein ligase binding	g.chr13:36886315A>G	AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1700T>C	13.37:g.36886315A>G	ENSP00000414147:p.Val567Ala					SPG20_ENST00000494062.2_Missense_Mutation_p.V567A|SPG20_ENST00000438666.2_Missense_Mutation_p.V567A|SPG20_ENST00000355182.4_Missense_Mutation_p.V567A	p.V567A	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)	8	1917	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	567					O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	c.1700T>C	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862134	0.91511	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89617	-2.54;-2.54;-2.54	5.86	5.86	0.93980	Senescence/spartin-associated (1);	0.000000	0.85682	D	0.000000	D	0.93268	0.7855	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92473	0.5987	10	0.37606	T	0.19	-22.1858	16.2644	0.82568	1.0:0.0:0.0:0.0	.	567;567	A8K6Q9;Q8N0X7	.;SPG20_HUMAN	A	567	ENSP00000406061:V567A;ENSP00000347314:V567A;ENSP00000414147:V567A	ENSP00000347314:V567A	V	-	2	0	SPG20	35784315	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.703000	0.74633	2.244000	0.73946	0.528000	0.53228	GTT		0.323	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2			74	258	0	0	0	1	0	74	258					G	36886315	A	G	36886315	3	3	105	1	0	0	0	0	1	0	0	0	15094	43	2	4	308	4	SPG20	13	36886315	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	9635453	36886315	78283563	175	35665											
SMAD9	4093	broad.mit.edu	37	chr13	37453546	37453546	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatccggccagcgccacacgCgacagtaaatcacatggggc	12	14	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:37453546C>T	ENST00000399275.2	-	1	420	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SMAD9_ENST00000379826.4_Missense_Mutation_p.R94H|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000350148.5_Missense_Mutation_p.R94H			O15198	SMAD9_HUMAN	SMAD family member 9	94	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GCGCCACACGCGACAGTAAAT	0.627																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(280-282)cGc>cAc		SMAD family member 9							35	38	37					13																	37453546		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37453546C>T		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.281G>A	13.37:g.37453546C>T	ENSP00000382216:p.Arg94His					SMAD9_ENST00000399275.2_Missense_Mutation_p.R94H|SMAD9_ENST00000350148.5_Missense_Mutation_p.R94H	p.R94H	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	2	623	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	94			MH1.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.281G>A	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140955	0.77775	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.82255	-1.59;-1.59;-1.59	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92506	0.7620	M	0.88512	2.96	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.70716	0.801;0.97	D	0.93576	0.6908	10	0.87932	D	0	.	18.4517	0.90705	0.0:1.0:0.0:0.0	.	94;94	O15198-2;O15198	.;SMAD9_HUMAN	H	94	ENSP00000382216:R94H;ENSP00000239885:R94H;ENSP00000369154:R94H	ENSP00000239885:R94H	R	-	2	0	SMAD9	36351546	1.000000	0.71417	0.962000	0.40283	0.019000	0.09904	6.034000	0.70933	2.599000	0.87857	0.563000	0.77884	CGC		0.627	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		7	220	0	0	0	1	0	7	220					T	37453546	C	T	37453546	3	4	105	1	0	0	0	0	1	0	0	0	14814	768	27	1	1146	1	SMAD9	13	37453546	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	567231	37453546	77716332	176	35666											
PCID2	55795	broad.mit.edu	37	chr13	113839829	113839829	+	Silent	SNP	C	C	A													attttaaacagctggttcacCagaaacagcatgccccactt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839829C>A	ENST00000337344.4	-	8	589	c.513G>T	c.(511-513)ctG>ctT	p.L171L	PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000375457.2_Silent_p.L169L|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Silent_p.L225L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					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)			GCTGGTTCACCAGAAACAGCA	0.353																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(505-507)ctG>ctT		PCI domain containing 2							125	122	123					13																	113839829		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113839829C>A	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.513G>T	13.37:g.113839829C>A						PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000351317.3_Silent_p.L148L|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L|PCID2_ENST00000493650.1_5'UTR	p.L169L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		8	1103	-	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)	171					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.507G>T	CCDS9532.2																																																																																				0.353	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		5	373	1	0	1.024e-07	1	1.06586e-07	5	373					A	113839829	C	A	113839829	2	1	105	1	0	0	0	0	0	0	0	1	11621	581	21	3		3	PCID2	13	113839829	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	76386283	113839829	1330049	177	35667	223	2									
PCID2	55795	broad.mit.edu	37	chr13	113839831	113839831	+	Silent	SNP	G	G	A													tttaaacagctggttcaccaGaaacagcatgccccacttct							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr13:113839831G>A	ENST00000337344.4	-	8	587	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000375457.2_Silent_p.L169L|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000246505.5_Silent_p.L225L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	171					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)			TGGTTCACCAGAAACAGCATG	0.353																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(505-507)Ctg>Ttg		PCI domain containing 2							125	122	123					13																	113839831		2203	4300	6503	SO:0001819	synonymous_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113839831G>A	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.511C>T	13.37:g.113839831G>A						PCID2_ENST00000337344.4_Silent_p.L171L|PCID2_ENST00000375459.1_Silent_p.L169L|PCID2_ENST00000375479.2_Silent_p.L171L|PCID2_ENST00000351317.3_Silent_p.L148L|PCID2_ENST00000375477.1_Silent_p.L171L|PCID2_ENST00000246505.5_Silent_p.L225L|PCID2_ENST00000493650.1_5'UTR	p.L169L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		8	1101	-	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)	171					A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Silent	SNP	ENST00000337344.4	37	c.505C>T	CCDS9532.2																																																																																				0.353	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		5	378	0	0	0	1	0	5	378					A	113839831	G	A	113839831	2	1	105	1	0	0	0	0	0	0	0	1	11621	933	33	2		2	PCID2	13	113839831	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2	113839831	1330047	178	35668	223	2									
TEP1	7011	broad.mit.edu	37	chr14	20854270	20854270	+	Frame_Shift_Del	DEL	G	G	-													tggtcaggaaggttgtagctGgggggaatgtatccataacg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:20854270delG	ENST00000262715.5	-	20	2986	c.2946delC	c.(2944-2946)cccfs	p.P982fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.P874fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	982					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)		GGTTGTAGCTGGGGGGAATGT	0.557																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2944-2946)ccfs		telomerase-associated protein 1							124	120	122					14																	20854270		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20854270delG		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.2946delC	14.37:g.20854270delG	ENSP00000262715:p.Pro982fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.P874fs	p.P982fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	20	2986	-	all_cancers(95;0.00123)	all_lung(585;0.235)	982					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.2946delC	CCDS9548.1																																																																																				0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	786						7	786	---	---	---	---	-	20854270	G	-	20854270	7	5	105	1	0	1	0	1	0	0	0	0	15811	1335	47	0	5081	0	TEP1	14	20854270	Frame_Shift_Del	DEL	G	TCGA-OE-A75W-01A-12D-A32N-08		20854270	86495270	179	35669											
NOVA1	4857	broad.mit.edu	37	chr14	26917998	26917998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gataagttcaacagcttttcGgttttgttcaggttctccac	8	9	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:26917998G>A	ENST00000539517.2	-	5	1008	c.691C>T	c.(691-693)Cga>Tga	p.R231*	NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*|NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	234	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ACAGCTTTTCGGTTTTGTTCA	0.473																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(691-693)Cga>Tga		neuro-oncological ventral antigen 1							237	215	223					14																	26917998		2203	4300	6503	SO:0001587	stop_gained	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917998G>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.691C>T	14.37:g.26917998G>A	ENSP00000438875:p.Arg231*					NOVA1_ENST00000465357.2_Nonsense_Mutation_p.R207*|NOVA1_ENST00000267422.7_Nonsense_Mutation_p.R109*	p.R231*	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1008	-			234			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Nonsense_Mutation	SNP	ENST00000539517.2	37	c.691C>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	38	6.801762	0.97849	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-3.4817	19.8956	0.96956	0.0:0.0:1.0:0.0	.	.	.	.	X	207;231;109;190;85	.	ENSP00000267422:R109X	R	-	1	2	NOVA1	25987838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	2.708000	0.92522	0.563000	0.77884	CGA		0.473	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		6	546	0	0	0	1	0	6	546					A	26917998	G	A	26917998	4	1	105	1	0	0	0	0	0	1	0	0	10596	1124	39	1	836	1	NOVA1	14	26917998	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6063728	26917998	80431542	180	35670											
EXOC5	10640	broad.mit.edu	37	chr14	57698379	57698379	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ataagcttagacaagaaagtCtgtttatcagtacctaaatt	6	6	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:57698379C>G	ENST00000413566.2	-	11	1352	c.993G>C	c.(991-993)caG>caC	p.Q331H	EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	331					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ACAAGAAAGTCTGTTTATCAG	0.343																																						ENST00000413566.2																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						c.(991-993)caG>caC		exocyst complex component 5							72	68	69					14																	57698379		1823	4079	5902	SO:0001583	missense	10640				exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm		g.chr14:57698379C>G	U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.993G>C	14.37:g.57698379C>G	ENSP00000389934:p.Gln331His					EXOC5_ENST00000340918.7_Missense_Mutation_p.Q266H	p.Q331H	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN			11	1352	-			331					B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	c.993G>C	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240468	0.39598	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	T;T	0.44482	0.92;0.92	5.62	5.62	0.85841	.	0.048260	0.85682	D	0.000000	T	0.23766	0.0575	N	0.02539	-0.55	0.51767	D	0.999934	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.08617	-1.0713	10	0.33940	T	0.23	-8.6151	20.0333	0.97547	0.0:1.0:0.0:0.0	.	266;331	F8W9B8;O00471	.;EXOC5_HUMAN	H	331;266	ENSP00000389934:Q331H;ENSP00000342100:Q266H	ENSP00000342100:Q266H	Q	-	3	2	EXOC5	56768132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.013000	0.57138	2.810000	0.96702	0.585000	0.79938	CAG		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544		5	271	0	0	0	1	0	5	271					G	57698379	C	G	57698379	3	3	105	1	0	0	0	0	1	0	0	0	5325	912	32	5	1165	5	EXOC5	14	57698379	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	30780381	57698379	49651161	181	35671											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055165	72055165	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gatagctttgatgaatgtatCtcacctacatacaagactgg	8	8	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055165C>G	ENST00000555818.1	+	2	924	c.576C>G	c.(574-576)atC>atG	p.I192M	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.I192M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I192M	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	192					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)		ATGAATGTATCTCACCTACAT	0.433																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(574-576)atC>atG		signal-induced proliferation-associated 1 like 1							142	123	129					14																	72055165		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055165C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.576C>G	14.37:g.72055165C>G	ENSP00000450832:p.Ile192Met					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.I192M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.I192M	p.I192M	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	924	+			192					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.576C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	6.533	0.466533	0.12402	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.42900	0.96;0.96;0.96	5.72	4.83	0.62350	.	0.295385	0.42420	D	0.000709	T	0.21761	0.0524	N	0.08118	0	0.80722	D	1	B;B;B	0.22480	0.07;0.027;0.001	B;B;B	0.18561	0.014;0.022;0.002	T	0.06285	-1.0835	10	0.49607	T	0.09	-26.514	8.1671	0.31233	0.0:0.7296:0.1368:0.1336	.	192;192;192	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	M	192	ENSP00000370630:I192M;ENSP00000450832:I192M;ENSP00000351352:I192M	ENSP00000351352:I192M	I	+	3	3	SIPA1L1	71124918	0.958000	0.32768	1.000000	0.80357	0.817000	0.46193	0.113000	0.15499	2.689000	0.91719	0.655000	0.94253	ATC		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		6	488	0	0	0	1	0	6	488					G	72055165	C	G	72055165	3	3	105	1	0	0	0	0	1	0	0	0	14379	903	32	5	578	5	SIPA1L1	14	72055165	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	14356786	72055165	35294375	182	35672			1	25		4	3	357	N	C	4.279304e-06
SIPA1L1	26037	broad.mit.edu	37	chr14	72055191	72055191	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tacatacaagactggaccatCactgcacagggaatatggta	9	9	1	1	rs572294354		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055191C>G	ENST00000555818.1	+	2	950	c.602C>G	c.(601-603)tCa>tGa	p.S201*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S201*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S201*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	201					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)		ACTGGACCATCACTGCACAGG	0.403																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(601-603)tCa>tGa		signal-induced proliferation-associated 1 like 1							164	142	150					14																	72055191		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055191C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.602C>G	14.37:g.72055191C>G	ENSP00000450832:p.Ser201*					SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S201*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S201*	p.S201*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	950	+			201					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.602C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	41	8.716085	0.98927	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	5.72	5.72	0.89469	.	0.053658	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.2469	19.8891	0.96923	0.0:1.0:0.0:0.0	.	.	.	.	X	201	.	ENSP00000351352:S201X	S	+	2	0	SIPA1L1	71124944	1.000000	0.71417	0.209000	0.23619	0.175000	0.22909	5.968000	0.70413	2.689000	0.91719	0.655000	0.94253	TCA		0.403	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	556	0	0	0	1	0	7	556					G	72055191	C	G	72055191	4	3	105	1	0	0	0	0	0	1	0	0	14379	838	29	5	604	5	SIPA1L1	14	72055191	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	26	72055191	35294349	183	35673			1	25		4	3	357	N	C	4.279304e-06
SIPA1L1	26037	broad.mit.edu	37	chr14	72055518	72055518	+	Missense_Mutation	SNP	C	C	T													aggtgaagaacttgggaagtCatcagatcttgaagataacc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055518C>T	ENST00000555818.1	+	2	1277	c.929C>T	c.(928-930)tCa>tTa	p.S310L	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S310L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	310					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)		CTTGGGAAGTCATCAGATCTT	0.418																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(928-930)tCa>tTa		signal-induced proliferation-associated 1 like 1							66	71	69					14																	72055518		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055518C>T	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.929C>T	14.37:g.72055518C>T	ENSP00000450832:p.Ser310Leu					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S310L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S310L	p.S310L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1277	+			310					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.929C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.558807	0.27827	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.43688	0.94;0.94;0.94	6.07	6.07	0.98685	.	0.428174	0.28161	N	0.016373	T	0.46698	0.1406	L	0.39898	1.24	0.80722	D	1	B;P;B	0.37500	0.074;0.597;0.001	B;B;B	0.43990	0.01;0.438;0.001	T	0.15752	-1.0426	10	0.36615	T	0.2	-11.6329	20.6593	0.99626	0.0:1.0:0.0:0.0	.	310;310;310	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	L	310	ENSP00000370630:S310L;ENSP00000450832:S310L;ENSP00000351352:S310L	ENSP00000351352:S310L	S	+	2	0	SIPA1L1	71125271	0.983000	0.35010	0.378000	0.26068	0.087000	0.18053	2.677000	0.46892	2.885000	0.99019	0.655000	0.94253	TCA		0.418	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		5	320	0	0	0	1	0	5	320					T	72055518	C	T	72055518	3	4	105	1	0	0	0	0	1	0	0	0	14379	838	29	2	931	2	SIPA1L1	14	72055518	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	327	72055518	35294022	184	35674	224	2	1	25		4	3	357	N	C	4.279304e-06
SIPA1L1	26037	broad.mit.edu	37	chr14	72055521	72055521	+	Nonsense_Mutation	SNP	C	C	A													tgaagaacttgggaagtcatCagatcttgaagataaccgat							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:72055521C>A	ENST00000555818.1	+	2	1280	c.932C>A	c.(931-933)tCa>tAa	p.S311*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	311					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)		GGGAAGTCATCAGATCTTGAA	0.413																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(931-933)tCa>tAa		signal-induced proliferation-associated 1 like 1							66	71	69					14																	72055521		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055521C>A	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.932C>A	14.37:g.72055521C>A	ENSP00000450832:p.Ser311*					SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S311*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S311*	p.S311*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1280	+			311					J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.932C>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	42	9.477020	0.99181	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	.	.	.	6.07	6.07	0.98685	.	0.378699	0.30869	N	0.008709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9733	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	311	.	ENSP00000351352:S311X	S	+	2	0	SIPA1L1	71125274	1.000000	0.71417	0.271000	0.24616	0.037000	0.13140	7.575000	0.82447	2.885000	0.99019	0.655000	0.94253	TCA		0.413	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		5	313	1	0	0.00116845	1	0.00119369	5	313					A	72055521	C	A	72055521	4	1	105	1	0	0	0	0	0	1	0	0	14379	838	29	3	934	3	SIPA1L1	14	72055521	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3	72055521	35294019	185	35675	224	2	1	25		4	3	357	N	C	4.279304e-06
PAPLN	89932	broad.mit.edu	37	chr14	73732116	73732116	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagccccgggtggtggatgCcagtccaggccagcggatcc	15	15	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr14:73732116C>T	ENST00000554301.1	+	22	3327	c.3164C>T	c.(3163-3165)gCc>gTc	p.A1055V	PAPLN_ENST00000555445.1_Missense_Mutation_p.A1039V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A1055V|PAPLN_ENST00000427855.1_Missense_Mutation_p.A1055V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A1028V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1055	Ig-like C2-type 2.					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)		GTGGTGGATGCCAGTCCAGGC	0.667																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(3163-3165)gCc>gTc		papilin, proteoglycan-like sulfated glycoprotein							57	59	59					14																	73732116		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73732116C>T	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.3164C>T	14.37:g.73732116C>T	ENSP00000451803:p.Ala1055Val					PAPLN_ENST00000555445.1_Missense_Mutation_p.A1039V|PAPLN_ENST00000554301.1_Missense_Mutation_p.A1055V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A1055V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A1028V	p.A1055V			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	23	3266	+			1055			Ig-like C2-type 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.3164C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.989697	0.74589	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	4.6	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin-like (1);	.	.	.	.	T	0.57301	0.2044	N	0.12527	0.23	0.30773	N	0.742865	D;D;P;P;P	0.63880	0.978;0.993;0.891;0.633;0.934	P;P;P;B;P	0.60609	0.805;0.877;0.782;0.417;0.623	T	0.57849	-0.7740	9	0.45353	T	0.12	.	9.7127	0.40256	0.0:0.7811:0.1416:0.0773	.	1039;1055;1055;254;1028	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	V	1028;1055;1055;1055;1039	ENSP00000345395:A1028V;ENSP00000403403:A1055V;ENSP00000370558:A1055V;ENSP00000451803:A1055V;ENSP00000451729:A1039V	ENSP00000345395:A1028V	A	+	2	0	PAPLN	72801869	0.999000	0.42202	0.131000	0.22000	0.867000	0.49689	2.669000	0.46825	0.546000	0.28920	0.561000	0.74099	GCC		0.667	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		5	476	0	0	0	1	0	5	476					T	73732116	C	T	73732116	3	4	105	1	0	0	0	0	1	0	0	0	11470	739	26	2	3165	2	PAPLN	14	73732116	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1676595	73732116	33617424	186	35676											
NIPA2	81614	broad.mit.edu	37	chr15	23006789	23006789	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtttgtctgtccatggCgaggacccaccacgaagatt	11	10	1	1	rs201271184		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:23006789C>T	ENST00000337451.3	-	8	1127	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H|NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H|NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	172						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CTGTCCATGGCGAGGACCCAC	0.468																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(514-516)cGc>cAc		non imprinted in Prader-Willi/Angelman syndrome 2							71	63	66					15																	23006789		2203	4300	6503	SO:0001583	missense	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006789C>T	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.515G>A	15.37:g.23006789C>T	ENSP00000337618:p.Arg172His					NIPA2_ENST00000398014.2_Missense_Mutation_p.R172H|NIPA2_ENST00000398013.3_Missense_Mutation_p.R172H|NIPA2_ENST00000359727.4_Missense_Mutation_p.R153H|NIPA2_ENST00000539711.2_Missense_Mutation_p.R153H	p.R172H	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1127	-		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)	172					F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	ENST00000337451.3	37	c.515G>A	CCDS10010.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097751	0.56075	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.91740	-2.9;-2.9;-2.9	5.65	3.79	0.43588	.	0.047323	0.85682	D	0.000000	D	0.91646	0.7360	M	0.81614	2.55	0.80722	D	1	P;P	0.38020	0.615;0.562	B;B	0.37888	0.17;0.26	D	0.90560	0.4515	10	0.59425	D	0.04	-18.3833	12.5884	0.56430	0.0:0.8679:0.0:0.1321	.	153;172	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	H	172;172;153;172;153	ENSP00000337618:R172H;ENSP00000381096:R172H;ENSP00000352762:R153H	ENSP00000337618:R172H	R	-	2	0	NIPA2	20558230	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	4.882000	0.63121	0.871000	0.35750	-0.768000	0.03414	CGC		0.468	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		112	112	0	0	0	1	0	112	112					T	23006789	C	T	23006789	3	4	105	1	0	0	0	0	1	0	0	0	10465	768	27	1	571	1	NIPA2	15	23006789	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08		23006789	79524603	187	35677											
TJP1	7082	broad.mit.edu	37	chr15	30001114	30001114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatctggaaaacttttctggGgatagaaagctgcctgagca	11	7	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:30001114G>A	ENST00000346128.6	-	25	4973	c.4499C>T	c.(4498-4500)cCc>cTc	p.P1500L	TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1424L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1500					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)		ACTTTTCTGGGGATAGAAAGC	0.438																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(4498-4500)cCc>cTc		tight junction protein 1							165	157	159					15																	30001114		1853	4100	5953	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30001114G>A		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.4499C>T	15.37:g.30001114G>A	ENSP00000281537:p.Pro1500Leu					TJP1_ENST00000400011.2_Missense_Mutation_p.P1424L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1420L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1500L	p.P1500L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	25	4973	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1500					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4499C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371619	0.61624	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.59083	0.29;0.29	5.61	5.61	0.85477	.	0.111909	0.64402	D	0.000008	T	0.63593	0.2524	L	0.50333	1.59	0.80722	D	1	B;B;B;P	0.45827	0.005;0.001;0.009;0.867	B;B;B;P	0.48030	0.009;0.002;0.016;0.564	T	0.65747	-0.6093	10	0.87932	D	0	.	19.8945	0.96949	0.0:0.0:1.0:0.0	.	1493;1420;1500;1424	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	1500;1424;1500;1420;1420	ENSP00000281537:P1500L;ENSP00000382890:P1424L	ENSP00000281537:P1500L	P	-	2	0	TJP1	27788406	1.000000	0.71417	0.902000	0.35471	0.988000	0.76386	9.263000	0.95617	2.937000	0.99478	0.650000	0.86243	CCC		0.438	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		8	857	0	0	0	1	0	8	857					A	30001114	G	A	30001114	3	1	105	1	0	0	0	0	1	0	0	0	15981	1232	43	2	763	2	TJP1	15	30001114	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6994325	30001114	72530278	188	35678											
VPS18	57617	broad.mit.edu	37	chr15	41192857	41192857	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcttgtagatgcctGgattgagatgggcagccggc	15	11	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:41192857G>A	ENST00000220509.5	+	4	2180	c.1841G>A	c.(1840-1842)tGg>tAg	p.W614*	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	614					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)		GTAGATGCCTGGATTGAGATG	0.637																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1840-1842)tGg>tAg		vacuolar protein sorting 18 homolog (S. cerevisiae)							78	76	77					15																	41192857		2203	4300	6503	SO:0001587	stop_gained	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192857G>A	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.1841G>A	15.37:g.41192857G>A	ENSP00000220509:p.Trp614*					VPS18_ENST00000558474.1_Intron	p.W614*	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2180	+		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)	614					Q8TCG0|Q96DI3|Q9H268	Nonsense_Mutation	SNP	ENST00000220509.5	37	c.1841G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	40	8.369804	0.98781	.	.	ENSG00000104142	ENST00000220509	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.9768	20.1278	0.97990	0.0:0.0:1.0:0.0	.	.	.	.	X	614	.	ENSP00000220509:W614X	W	+	2	0	VPS18	38980149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.768000	0.95171	0.561000	0.74099	TGG		0.637	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			21	502	0	0	0	1	0	21	502					A	41192857	G	A	41192857	4	1	105	1	0	0	0	0	0	1	0	0	17248	1357	47	2	1855	2	VPS18	15	41192857	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	11191743	41192857	61338535	189	35679											
SEMA6D	80031	broad.mit.edu	37	chr15	48060897	48060897	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggaaatttgtagttcaagatGatccaaacacttctgatttt	7	6	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:48060897G>A	ENST00000316364.5	+	18	2324	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	629					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)		AGTTCAAGATGATCCAAACAC	0.433																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1885-1887)Gat>Aat		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							131	124	126					15																	48060897		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48060897G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1885G>A	15.37:g.48060897G>A	ENSP00000324857:p.Asp629Asn					SEMA6D_ENST00000536845.2_Missense_Mutation_p.D629N|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D610N|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000354744.4_Intron	p.D629N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	18	2324	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	629					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1885G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979420	0.53827	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.17854	2.25;2.25;2.27	5.49	5.49	0.81192	.	0.490778	0.22255	N	0.062495	T	0.11110	0.0271	N	0.08118	0	0.80722	D	1	B	0.23058	0.079	B	0.23018	0.043	T	0.26916	-1.0089	10	0.17832	T	0.49	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	629	Q8NFY4	SEM6D_HUMAN	N	629;629;610	ENSP00000446152:D629N;ENSP00000324857:D629N;ENSP00000374084:D610N	ENSP00000324857:D629N	D	+	1	0	SEMA6D	45848189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.466000	0.80914	2.733000	0.93635	0.655000	0.94253	GAT		0.433	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		12	405	0	0	0	1	0	12	405					A	48060897	G	A	48060897	3	1	105	1	0	0	0	0	1	0	0	0	14092	1290	45	2	1994	2	SEMA6D	15	48060897	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	6868040	48060897	54470495	190	35680											
FGF7	2252	broad.mit.edu	37	chr15	49776572	49776572	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaccattacaacacatatgcAtcagctaaatggacacacaa	4	11	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					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)	p.A152A(1)		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)		ACACATATGCATCAGCTAAAT	0.338																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.A152A(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(454-456)gcA>gcC		fibroblast growth factor 7	Palifermin(DB00039)						55	53	54					15																	49776572		2037	3875	5912	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776572A>C	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.456A>C	15.37:g.49776572A>C						FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	p.A152A	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1067	+		all_lung(180;0.00391)	152					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.456A>C	CCDS10131.1																																																																																				0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		5	290	0	0	0	1	0	5	290					C	49776572	A	C	49776572	2	2	105	1	0	0	0	0	0	0	0	1	5882	204	8	4		4	FGF7	15	49776572	Silent	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	1715675	49776572	52754820	191	35681											
CYP19A1	1588	broad.mit.edu	37	chr15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaggataatgtttgtccccTttttcactgggtagccatcg	9	10	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R|CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	390					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)	GTTTGTCCCCTTTTTCACTGG	0.413																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(1168-1170)aAg>aGg		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						190	173	179					15																	51504611		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51504611T>C	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.1169A>G	15.37:g.51504611T>C	ENSP00000379683:p.Lys390Arg					CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R	p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	9	1322	-			390					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.1169A>G	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922211	0.52653	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	2.13	0.27403	.	0.084915	0.85682	N	0.000000	T	0.69691	0.3139	L	0.58354	1.805	0.46279	D	0.998961	B	0.15141	0.012	B	0.27262	0.078	T	0.66152	-0.5995	10	0.52906	T	0.07	-23.6398	10.5475	0.45068	0.0:0.2114:0.0:0.7886	.	390	P11511	CP19A_HUMAN	R	390	ENSP00000379683:K390R;ENSP00000260433:K390R;ENSP00000379685:K390R	ENSP00000260433:K390R	K	-	2	0	CYP19A1	49291903	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.131000	0.50515	0.541000	0.28827	0.533000	0.62120	AAG		0.413	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			6	628	0	0	0	1	0	6	628					C	51504611	T	C	51504611	3	2	105	1	0	0	0	0	1	0	0	0	4159	1609	56	4	350	4	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	1728039	51504611	51026781	192	35682											
LMAN1L	79748	broad.mit.edu	37	chr15	75116728	75116728	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccccgcccacctggccagCccccaagggcctcctcgtgc	9	24	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:75116728C>A	ENST00000309664.5	+	13	1499	c.1360C>A	c.(1360-1362)Ccc>Acc	p.P454T	RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank|LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	454						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						ACCTGGCCAGCCCCCAAGGGC	0.602																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1360-1362)Ccc>Acc		lectin, mannose-binding, 1 like							92	102	99					15																	75116728		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116728C>A	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.1360C>A	15.37:g.75116728C>A	ENSP00000310431:p.Pro454Thr					RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.P442T	p.P454T	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			13	1499	+			454					Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1360C>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	9.098	1.003432	0.19121	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.45276	1.06;0.9	4.95	-3.18	0.05186	.	4.451500	0.00424	N	0.000078	T	0.27205	0.0667	L	0.29908	0.895	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.19391	0.025;0.002	T	0.05194	-1.0900	10	0.26408	T	0.33	.	1.6489	0.02767	0.1359:0.32:0.1328:0.4113	.	442;454	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	T	454;442	ENSP00000310431:P454T;ENSP00000369031:P442T	ENSP00000310431:P454T	P	+	1	0	LMAN1L	72903781	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.646000	0.05403	-0.565000	0.06061	-1.288000	0.01363	CCC		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			250	672	1	0	6.19748e-107	1	6.70381e-107	250	672					A	75116728	C	A	75116728	3	1	105	1	0	0	0	0	1	0	0	0	8870	739	26	3	1410	3	LMAN1L	15	75116728	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	23612117	75116728	27414664	193	35683											
NEIL1	79661	broad.mit.edu	37	chr15	75644674	75644674	+	Frame_Shift_Del	DEL	C	C	-													ccccactacaggctgaagatCcccccctttgagaaggcccg							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:75644674delC	ENST00000564784.1	+	5	1193	c.564delC	c.(562-564)atcfs	p.I188fs	RP11-817O13.6_ENST00000563660.1_lincRNA|MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000567959.1_3'UTR|NEIL1_ENST00000569035.1_Frame_Shift_Del_p.I188fs|NEIL1_ENST00000355059.4_Frame_Shift_Del_p.I188fs			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	188					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						GGCTGAAGATCCCCCCCTTTG	0.652								Base excision repair (BER), DNA glycosylases																														ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.(562-564)atfs	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)							76	76	76					15																	75644674		2197	4294	6491	SO:0001589	frameshift_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75644674delC	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.564delC	15.37:g.75644674delC	ENSP00000457352:p.Ile188fs					NEIL1_ENST00000567959.1_3'UTR|NEIL1_ENST00000569035.1_Frame_Shift_Del_p.I188fs|NEIL1_ENST00000355059.4_Frame_Shift_Del_p.I188fs	p.I188fs			Q96FI4	NEIL1_HUMAN			5	1193	+			188					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Frame_Shift_Del	DEL	ENST00000564784.1	37	c.564delC	CCDS10278.1																																																																																				0.652	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		7	739						7	739	---	---	---	---	-	75644674	C	-	75644674	7	5	105	1	0	1	0	1	0	0	0	0	10360	845	30	0	574	0	NEIL1	15	75644674	Frame_Shift_Del	DEL	C	TCGA-OE-A75W-01A-12D-A32N-08	527946	75644674	26886718	194	35684											
ACAN	176	broad.mit.edu	37	chr15	89402244	89402244	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccacgaagctaaccttgagaGatcctctggcctaggagtga	11	11	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:89402244G>C	ENST00000561243.1	+	11	6428	c.6428G>C	c.(6427-6429)aGa>aCa	p.R2143T	ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T|ACAN_ENST00000559004.1_Missense_Mutation_p.R2143T|ACAN_ENST00000439576.2_Missense_Mutation_p.R2143T			P16112	PGCA_HUMAN	aggrecan	2028	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)			AACCTTGAGAGATCCTCTGGC	0.577																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6427-6429)aGa>aCa		aggrecan							77	82	80					15																	89402244		2089	4222	6311	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402244G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6428G>C	15.37:g.89402244G>C	ENSP00000453342:p.Arg2143Thr					ACAN_ENST00000561243.1_Missense_Mutation_p.R2143T|ACAN_ENST00000559004.1_Missense_Mutation_p.R2143T|ACAN_ENST00000352105.7_Missense_Mutation_p.R2143T	p.R2143T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6802	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2143					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6428G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.123810	0.00031	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.01804	4.8;4.63	4.78	0.0257	0.14146	.	1.021840	0.07884	N	0.969992	T	0.00875	0.0029	N	0.03608	-0.345	0.09310	N	1	B;B	0.22346	0.041;0.068	B;B	0.17433	0.018;0.018	T	0.48479	-0.9032	10	0.13108	T	0.6	2.0912	4.3001	0.10920	0.1066:0.5139:0.2441:0.1353	.	2143;2143	E7ENV9;E7EX88	.;.	T	2143;2143;2029	ENSP00000387356:R2143T;ENSP00000341615:R2143T	ENSP00000268134:R2029T	R	+	2	0	ACAN	87203248	0.000000	0.05858	0.010000	0.14722	0.065000	0.16274	-0.708000	0.05035	0.410000	0.25675	0.555000	0.69702	AGA		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		8	563	0	0	0	1	0	8	563					C	89402244	G	C	89402244	3	2	105	1	0	0	0	0	1	0	0	0	117	942	33	5	6470	5	ACAN	15	89402244	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	13757570	89402244	13129148	195	35685											
RCCD1	91433	broad.mit.edu	37	chr15	91500894	91500894	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccacggctgttggaggcGttgcagggcctagtcatggc	17	10	1	0	rs375710438		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr15:91500894G>A	ENST00000394258.2	+	4	820	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RCCD1_ENST00000556618.1_Silent_p.A206A|AC068831.6_ENST00000553321.1_RNA|RCCD1_ENST00000555155.1_Silent_p.A206A|RCCD1_ENST00000556774.1_Intron	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	206						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)			TGTTGGAGGCGTTGCAGGGCC	0.607																																						ENST00000394258.2																			0				breast(1)|kidney(1)|large_intestine(2)	4						c.(616-618)gcG>gcA		RCC1 domain containing 1							90	86	87					15																	91500894		2198	4298	6496	SO:0001819	synonymous_variant	91433							g.chr15:91500894G>A		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.618G>A	15.37:g.91500894G>A						RCCD1_ENST00000555155.1_Silent_p.A206A|RCCD1_ENST00000556774.1_Intron|RCCD1_ENST00000556618.1_Silent_p.A206A	p.A206A	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	Lung(145;0.189)		4	820	+	Lung NSC(78;0.0987)|all_lung(78;0.175)		206					B2RTP9|Q29RX6	Silent	SNP	ENST00000394258.2	37	c.618G>A	CCDS32333.1																																																																																				0.607	RCCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414748.1	NM_033544		6	472	0	0	0	1	0	6	472					A	91500894	G	A	91500894	2	1	105	1	0	0	0	0	0	0	0	1	13225	1132	40	1		1	RCCD1	15	91500894	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2098650	91500894	11030498	196	35686											
IFT140	9742	broad.mit.edu	37	chr16	1657152	1657152	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aaatatccacgctgcctgttGaggttgtgctgatgtaagca	11	8	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:1657152G>A	ENST00000426508.2	-	3	479	c.116C>T	c.(115-117)tCa>tTa	p.S39L	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	39					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)				GCTGCCTGTTGAGGTTGTGCT	0.522																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(115-117)tCa>tTa		intraflagellar transport 140 homolog (Chlamydomonas)							214	182	193					16																	1657152		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1657152G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.116C>T	16.37:g.1657152G>A	ENSP00000406012:p.Ser39Leu					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.S39L	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			3	479	-		Hepatocellular(780;0.219)	39					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.116C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	7.782	0.709735	0.15239	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.65178	-0.14;-0.14	5.53	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.614492	0.17548	N	0.170274	T	0.50922	0.1644	L	0.49126	1.545	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39313	-0.9620	10	0.31617	T	0.26	.	6.0312	0.19681	0.1449:0.0:0.7042:0.1509	.	39	Q96RY7	IF140_HUMAN	L	39	ENSP00000380562:S39L;ENSP00000406012:S39L	ENSP00000380562:S39L	S	-	2	0	IFT140	1597153	0.000000	0.05858	0.006000	0.13384	0.029000	0.11900	0.693000	0.25497	0.653000	0.30826	0.655000	0.94253	TCA		0.522	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		10	652	0	0	0	1	0	10	652					A	1657152	G	A	1657152	3	1	105	1	0	0	0	0	1	0	0	0	7586	1294	45	2	4388	2	IFT140	16	1657152	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		1657152	88697601	197	35687											
MYLK3	91807	broad.mit.edu	37	chr16	46781922	46781922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcctgtgcaggccccGctccaggtggcccatgtctc	11	18	1	0	rs200653944		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:46781922G>A	ENST00000394809.4	-	1	299	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	62					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)	p.R62W(2)		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)				TGCAGGCCCCGCTCCAGGTGG	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17468	0.0		0.0	False		,,,				2504	0.0					ENST00000394809.4																			2	Substitution - Missense(2)	p.R62W(2)	prostate(2)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(184-186)Cgg>Tgg		myosin light chain kinase 3		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	37	39	39		184	1.7	1	16		39	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MYLK3	NM_182493.2	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	62/820	46781922	2,13004	2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46781922G>A	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.184C>T	16.37:g.46781922G>A	ENSP00000378288:p.Arg62Trp					MYLK3_ENST00000536476.1_Intron	p.R62W	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			1	299	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	62					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.184C>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694724	0.30052	2.27E-4	1.16E-4	ENSG00000140795	ENST00000394809	T	0.73152	-0.72	5.09	1.66	0.24008	.	0.248315	0.21157	N	0.079230	T	0.61022	0.2314	L	0.29908	0.895	0.09310	N	0.999997	D	0.63880	0.993	P	0.47470	0.548	T	0.55854	-0.8075	10	0.72032	D	0.01	.	9.4835	0.38915	0.0:0.1113:0.4457:0.443	.	62	Q32MK0	MYLK3_HUMAN	W	62	ENSP00000378288:R62W	ENSP00000378288:R62W	R	-	1	2	MYLK3	45339423	0.991000	0.36638	0.963000	0.40424	0.003000	0.03518	0.984000	0.29565	0.466000	0.27193	-0.500000	0.04577	CGG		0.652	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		65	169	0	0	0	1	0	65	169					A	46781922	G	A	46781922	3	1	105	1	0	0	0	0	1	0	0	0	10099	1086	38	1	2327	1	MYLK3	16	46781922	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	45124770	46781922	43572831	198	35688											
CES1	1066	broad.mit.edu	37	chr16	55862732	55862732	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccatggttctgcaggctgCggtggagtaaacctcagggg	15	10	2	0	rs145950149		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:55862732C>T	ENST00000361503.4	-	2	334	c.204G>A	c.(202-204)ccG>ccA	p.P68P	CES1_ENST00000360526.3_Silent_p.P69P|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000422046.2_Silent_p.P68P			P23141	EST1_HUMAN	carboxylesterase 1	68					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)	CTGCAGGCTGCGGTGGAGTAA	0.532																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(202-204)ccG>ccA		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	C	,,	0,4396		0,0,2198	106	105	105		204,207,204	-6.1	0.6	16	dbSNP_134	105	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6496	TT,TC,CC		0.0233,0.0,0.0154	,,	68/568,69/569,68/567	55862732	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55862732C>T	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.204G>A	16.37:g.55862732C>T						CES1_ENST00000361503.4_Silent_p.P68P|CES1_ENST00000360526.3_Silent_p.P69P	p.P68P			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	2	485	-			68					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.204G>A	CCDS45488.1																																																																																				0.532	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		57	208	0	0	0	1	0	57	208					T	55862732	C	T	55862732	2	4	105	1	0	0	0	0	0	0	0	1	3278	755	27	1		1	CES1	16	55862732	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9080810	55862732	34492021	199	35689											
GPR97	222487	broad.mit.edu	37	chr16	57714440	57714440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccttggaccagtccacGgtgcatatcctcacacgcat	7	17	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:57714440G>A	ENST00000333493.4	+	8	953	c.792G>A	c.(790-792)acG>acA	p.T264T	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.T54T|GPR97_ENST00000450388.3_Silent_p.T144T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	264					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T264T(1)		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						ACCAGTCCACGGTGCATATCC	0.587																																						ENST00000333493.4																			1	Substitution - coding silent(1)	p.T264T(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(790-792)acG>acA		G protein-coupled receptor 97							136	119	125					16																	57714440		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57714440G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"-", "GPCR / Class B : Orphans"	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.792G>A	16.37:g.57714440G>A						GPR97_ENST00000450388.3_Silent_p.T144T|GPR97_ENST00000327655.6_Silent_p.T54T	p.T264T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			8	953	+			264					Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.792G>A	CCDS10786.1																																																																																				0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		67	191	0	0	0	1	0	67	191					A	57714440	G	A	57714440	2	1	105	1	0	0	0	0	0	0	0	1	6750	1103	39	1		1	GPR97	16	57714440	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1851708	57714440	32640313	200	35690											
CES3	23491	broad.mit.edu	37	chr16	67006386	67006386	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gtgttcggaggtcccttcctCatggacgagagctcccgcct	12	14	1	1	rs201944889		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67006386C>T	ENST00000303334.4	+	11	1490	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	CES3_ENST00000394037.1_Silent_p.L473L|CES3_ENST00000543856.1_Silent_p.L112L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	473						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GTCCCTTCCTCATGGACGAGA	0.592																																						ENST00000303334.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24						c.(1417-1419)ctC>ctT		carboxylesterase 3							129	126	127					16																	67006386		2200	4300	6500	SO:0001819	synonymous_variant	23491					endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:67006386C>T	AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1419C>T	16.37:g.67006386C>T						CES3_ENST00000394037.1_Silent_p.L473L|CES3_ENST00000543856.1_Silent_p.L112L	p.L473L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)	11	1490	+		Ovarian(137;0.0563)	473					B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Silent	SNP	ENST00000303334.4	37	c.1419C>T	CCDS10826.1																																																																																				0.592	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268848.1	NM_024922		12	575	0	0	0	1	0	12	575					T	67006386	C	T	67006386	2	4	105	1	0	0	0	0	0	0	0	1	3280	813	29	2		2	CES3	16	67006386	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9291946	67006386	23348367	201	35691											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	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.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	346						8	346	---	---	---	---	-	67913788	AGC	-	67913786	7	5	105	1	0	1	0	1	0	0	0	0	4924	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-OE-A75W-01A-12D-A32N-08	907400	67913786	22440967	202	35692											
ESRP2	80004	broad.mit.edu	37	chr16	68265495	68265495	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcaggcctcggaggcGtacacagtccctcccagtcc	13	15	0	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr16:68265495G>A	ENST00000565858.1	-	11	1518	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	ESRP2_ENST00000473183.2_Missense_Mutation_p.R468C|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	478	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						CCTCGGAGGCGTACACAGTCC	0.622																																						ENST00000473183.2																			0				NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						c.(1402-1404)Cgc>Tgc		epithelial splicing regulatory protein 2							90	78	82					16																	68265495		2198	4300	6498	SO:0001583	missense	80004				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding	g.chr16:68265495G>A	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.1432C>T	16.37:g.68265495G>A	ENSP00000454554:p.Arg478Cys					ESRP2_ENST00000565858.1_Missense_Mutation_p.R478C	p.R468C			Q9H6T0	ESRP2_HUMAN			11	1940	-			478					Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	ENST00000565858.1	37	c.1402C>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.012624	0.75161	.	.	ENSG00000103067	ENST00000473183	T	0.09163	3.01	5.93	5.93	0.95920	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69105	-0.5233	10	0.87932	D	0	-15.6647	20.3437	0.98782	0.0:0.0:1.0:0.0	.	478;468	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	C	468	ENSP00000418748:R468C	ENSP00000418748:R468C	R	-	1	0	ESRP2	66822996	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	6.459000	0.73513	2.815000	0.96918	0.561000	0.74099	CGC		0.622	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000433083.1	NM_024939		4	274	0	0	0	1	0	4	274					A	68265495	G	A	68265495	3	1	105	1	0	0	0	0	1	0	0	0	5277	1145	40	1	771	1	ESRP2	16	68265495	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	351709	68265495	22089258	203	35693											
CTNS	1497	broad.mit.edu	37	chr17	3543532	3543532	+	Frame_Shift_Del	DEL	T	T	-													ttggctgactatttttatccTttttcccctgaagctcgtag							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:3543532delT	ENST00000046640.3	+	3	625	c.32delT	c.(31-33)cttfs	p.L11fs	CTNS_ENST00000381870.3_Frame_Shift_Del_p.L11fs|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000441220.2_5'UTR|CTNS_ENST00000399306.2_Frame_Shift_Del_p.L11fs|CTNS_ENST00000488623.1_Intron	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	11					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)	ATTTTTATCCTTTTTCCCCTG	0.393																																						ENST00000046640.3																			0				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10						c.(31-33)ctfs		cystinosin, lysosomal cystine transporter	L-Cystine(DB00138)						177	183	181					17																	3543532		2203	4300	6503	SO:0001589	frameshift_variant	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3543532delT	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.32delT	17.37:g.3543532delT	ENSP00000046640:p.Leu11fs					CTNS_ENST00000441220.2_5'UTR|CTNS_ENST00000488623.1_Intron|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000399306.2_Frame_Shift_Del_p.L11fs|CTNS_ENST00000381870.3_Frame_Shift_Del_p.L11fs	p.L11fs	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	3	625	+			11					D3DTJ5|Q8IZ01|Q9UNK6	Frame_Shift_Del	DEL	ENST00000046640.3	37	c.32delT	CCDS11031.1																																																																																				0.393	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		8	640						8	640	---	---	---	---	-	3543532	T	-	3543532	7	5	105	1	0	1	0	1	0	0	0	0	4032	1609	56	0	34	0	CTNS	17	3543532	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08		3543532	77651678	204	35694											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	11	13	0	0	rs121913344		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971506	TP53	M	rs121913344	c.(916-918)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							120	106	110					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577022G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1048	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	306		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.916C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		120	174	0	0	0	1	0	120	174					A	7577022	G	A	7577022	4	1	105	1	0	0	0	0	0	1	0	0	16434	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4033490	7577022	73618188	205	35695											
CHD3	1107	broad.mit.edu	37	chr17	7797171	7797171	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccgagtgcctgatggacGcaagaagcttcggggaaaga	14	11	0	3	rs139173826		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:7797171G>A	ENST00000330494.7	+	6	992	c.842G>A	c.(841-843)cGc>cAc	p.R281H	CHD3_ENST00000358181.4_Missense_Mutation_p.R281H|CHD3_ENST00000380358.4_Missense_Mutation_p.R340H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	281					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)				CCTGATGGACGCAAGAAGCTT	0.542																																						ENST00000380358.4																			0				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						c.(1018-1020)cGc>cAc		chromodomain helicase DNA binding protein 3		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	137	132	134		1019,842,842	5.3	1	17	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	340/2060,281/2001,281/1967	7797171	1,13005	2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797171G>A	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.842G>A	17.37:g.7797171G>A	ENSP00000332628:p.Arg281His					CHD3_ENST00000330494.7_Missense_Mutation_p.R281H|CHD3_ENST00000358181.4_Missense_Mutation_p.R281H	p.R340H	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			6	1020	+		Prostate(122;0.202)	281					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1019G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571999	0.28092	0.0	1.16E-4	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.63;-2.62	5.29	5.29	0.74685	.	0.000000	0.44688	D	0.000423	T	0.80529	0.4640	N	0.22421	0.69	0.34035	D	0.654297	P;P;P	0.46220	0.871;0.874;0.874	B;B;B	0.35550	0.205;0.101;0.145	D	0.85691	0.1307	10	0.62326	D	0.03	-6.0171	7.7325	0.28796	0.0868:0.1663:0.7469:0.0	.	281;281;340	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	340;281;281	ENSP00000369716:R340H;ENSP00000350907:R281H;ENSP00000332628:R281H	ENSP00000332628:R281H	R	+	2	0	CHD3	7737896	0.981000	0.34729	1.000000	0.80357	0.987000	0.75469	1.600000	0.36762	2.480000	0.83734	0.650000	0.86243	CGC		0.542	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		6	639	0	0	0	1	0	6	639					A	7797171	G	A	7797171	3	1	105	1	0	0	0	0	1	0	0	0	3335	1087	38	1	1145	1	CHD3	17	7797171	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	220149	7797171	73398039	206	35696											
ARHGEF15	22899	broad.mit.edu	37	chr17	8221919	8221919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagcgctgaggtggggcGcatgaagcagactgaagagc	17	8	0	5	rs143720339		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:8221919G>A	ENST00000361926.3	+	11	1921	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	604					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						GAGGTGGGGCGCATGAAGCAG	0.612																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1810-1812)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 15		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	63	62		1811,1811	5.3	1	17	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	ARHGEF15	NM_025014.1,NM_173728.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	604/842,604/842	8221919	1,13005	2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221919G>A	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.1811G>A	17.37:g.8221919G>A	ENSP00000355026:p.Arg604His					AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H	p.R604H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			11	1921	+			604					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1811G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	23.0	4.358370	0.82243	2.27E-4	0.0	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.32515	1.45;1.45	5.29	5.29	0.74685	Dbl homology (DH) domain (1);	0.059270	0.64402	D	0.000004	T	0.51160	0.1658	L	0.59436	1.845	0.46113	D	0.998873	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	T	0.49679	-0.8914	10	0.54805	T	0.06	-18.0429	16.4339	0.83864	0.0:0.0:1.0:0.0	.	604;604	D3DTR7;O94989	.;ARHGF_HUMAN	H	604;394;604	ENSP00000355026:R604H;ENSP00000412505:R604H	ENSP00000355026:R604H	R	+	2	0	ARHGEF15	8162644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.368000	0.59505	2.470000	0.83445	0.555000	0.69702	CGC		0.612	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		4	194	0	0	0	1	0	4	194					A	8221919	G	A	8221919	3	1	105	1	0	0	0	0	1	0	0	0	898	1087	38	1	1849	1	ARHGEF15	17	8221919	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	424748	8221919	72973291	207	35697											
NF1	4763	broad.mit.edu	37	chr17	29652851	29652851	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tccttaggttcaaaactggtCaaatcaatggtgatttgctg	9	7	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29652851C>T	ENST00000358273.4	+	37	5232	c.4849C>T	c.(4849-4851)Caa>Taa	p.Q1617*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1596*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1617	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGGTCAAATCAATGG	0.323			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4849-4851)Caa>Taa		neurofibromin 1							88	89	89					17																	29652851		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29652851C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4849C>T	17.37:g.29652851C>T	ENSP00000351015:p.Gln1617*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1596*|NF1_ENST00000581113.2_3'UTR	p.Q1617*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5232	+		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)	1617			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.4849C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	47	13.673406	0.99756	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	18.7588	0.91842	0.0:1.0:0.0:0.0	.	.	.	.	X	1617;1596;1262	.	ENSP00000348498:Q1596X	Q	+	1	0	NF1	26676977	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.456000	0.80751	2.697000	0.92050	0.655000	0.94253	CAA		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	381	0	0	0	1	0	5	381					T	29652851	C	T	29652851	4	4	105	1	0	0	0	0	0	1	0	0	10398	827	29	2	5056	2	NF1	17	29652851	Nonsense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	21430932	29652851	51542359	208	35698											
NF1	4763	broad.mit.edu	37	chr17	29665118	29665118	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtattagcaaacgagtgtcTcatgggcagataaagcagat	11	6	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:29665118T>G	ENST00000358273.4	+	45	7163	c.6780T>G	c.(6778-6780)tcT>tcG	p.S2260S	NF1_ENST00000356175.3_Silent_p.S2239S|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Silent_p.S53S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2260					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACGAGTGTCTCATGGGCAGA	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"D, Mis, N, F, S, O"	neurofibromatosis type 1 gene			O		"neurofibroma, glioma"	"neurofibroma, glioma"	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6778-6780)tcT>tcG		neurofibromin 1							161	154	156					17																	29665118		2203	4300	6503	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29665118T>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6780T>G	17.37:g.29665118T>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Silent_p.S53S|NF1_ENST00000417592.2_Intron|NF1_ENST00000356175.3_Silent_p.S2239S	p.S2260S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	45	7163	+		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)	2260					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.6780T>G	CCDS42292.1																																																																																				0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		61	714	0	0	0	1	0	61	714					G	29665118	T	G	29665118	2	3	105	1	0	0	0	0	0	0	0	1	10398	1538	54	4		4	NF1	17	29665118	Silent	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	12267	29665118	51530092	209	35699											
LIG3	3980	broad.mit.edu	37	chr17	33318808	33318808	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcggctgtccaagcTcaccaaggaggatgagcagc	12	13	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33318808T>A	ENST00000378526.4	+	6	1293	c.1160T>A	c.(1159-1161)cTc>cAc	p.L387H	LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	387					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)	CTGTCCAAGCTCACCAAGGAG	0.552								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1159-1161)cTc>cAc	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)						70	62	65					17																	33318808		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33318808T>A		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.1160T>A	17.37:g.33318808T>A	ENSP00000367787:p.Leu387His					LIG3_ENST00000262327.5_Missense_Mutation_p.L387H	p.L387H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN			6	1293	+		Ovarian(249;0.17)	387					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.1160T>A	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480006	0.84747	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.21191	2.02;2.02	5.5	5.5	0.81552	DNA ligase, ATP-dependent, N-terminal (3);	0.064354	0.64402	D	0.000004	T	0.46444	0.1393	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.957	T	0.38090	-0.9677	10	0.36615	T	0.2	-20.8443	14.9457	0.71029	0.0:0.0:0.0:1.0	.	387;387;387	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	H	387	ENSP00000367787:L387H;ENSP00000262327:L387H	ENSP00000262327:L387H	L	+	2	0	LIG3	30342921	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.672000	0.83956	2.308000	0.77769	0.533000	0.62120	CTC		0.552	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		8	286	0	0	0	1	0	8	286					A	33318808	T	A	33318808	3	1	105	1	0	0	0	0	1	0	0	0	8814	1551	54	5	1178	5	LIG3	17	33318808	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	3653690	33318808	47876402	210	35700											
PEX12	5193	broad.mit.edu	37	chr17	33902992	33902993	+	Frame_Shift_Del	DEL	AG	AG	-													cacagtcttcattttgggtaAgaggggagaatcagagttat					rs398123301|rs61752110|rs61752111		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:33902992_33902993delAG	ENST00000225873.4	-	3	1495_1496	c.888_889delCT	c.(886-891)ctcttafs	p.LL296fs	SNORD7_ENST00000384567.1_RNA|RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	296					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTTGGGTAAGAGGGGAGAAT	0.47																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18	GRCh37	CD982877	PEX12	D		c.(886-891)cttafs		peroxisomal biogenesis factor 12				20,4244		10,0,2122				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.4	0.6		dbSNP_129	190	6,8246		2,2,4122	no	frameshift	PEX12	NM_000286.2		12,2,6244	A1A1,A1R,RR		0.0727,0.469,0.2077				26,12490				SO:0001589	frameshift_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33902992_33902993delAG	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.888_889delCT	17.37:g.33902994_33902995delAG	ENSP00000225873:p.Leu296fs						p.LL296fs	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1495_1496	-			296					B2R6M2	Frame_Shift_Del	DEL	ENST00000225873.4	37	c.888_889delCT	CCDS11296.1																																																																																				0.47	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		50	368						50	368	---	---	---	---	-	33902993	AG	-	33902992	7	5	105	1	0	1	0	1	0	0	0	0	11782	69	3	0	194	0	PEX12	17	33902992	Frame_Shift_Del	DEL	AG	TCGA-OE-A75W-01A-12D-A32N-08	584184	33902992	47292218	211	35701											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	7	17	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145	129	134					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			7	578	0	0	0	1	0	7	578					A	38240101	G	A	38240101	3	1	105	1	0	0	0	0	1	0	0	0	15925	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4337109	38240101	42955109	212	35702											
SMARCE1	6605	broad.mit.edu	37	chr17	38787103	38787103	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttcctcctgccttttgCgggcctgttcctctgcctgt	8	17	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:38787103C>T	ENST00000348513.6	-	10	1670	c.890G>A	c.(889-891)cGc>cAc	p.R297H	KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	297					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.R297H(1)		large_intestine(1)	1		Breast(137;0.000812)				CTGCCTTTTGCGGGCCTGTTC	0.507																																						ENST00000348513.6																			1	Substitution - Missense(1)	p.R297H(1)	large_intestine(1)	large_intestine(1)	1						c.(889-891)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1							122	106	111					17																	38787103		2203	4300	6503	SO:0001583	missense	6605				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	g.chr17:38787103C>T	AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.890G>A	17.37:g.38787103C>T	ENSP00000323967:p.Arg297His					SMARCE1_ENST00000431889.2_Missense_Mutation_p.R279H|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R262H|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R262H|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R227H|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R227H|SMARCE1_ENST00000578044.1_Missense_Mutation_p.R227H	p.R297H	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN			10	1670	-		Breast(137;0.000812)	297					B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	c.890G>A	CCDS11370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412636|3.412636	0.62511|0.62511	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	.|T;T;T	.|0.20598	.|2.07;2.06;2.3	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.048290	.|0.85682	.|D	.|0.000000	T|T	0.44993|0.44993	0.1320|0.1320	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.76071	.|0.987;0.98;0.98	T|T	0.28332|0.28332	-1.0047|-1.0047	5|10	.|0.72032	.|D	.|0.01	.|.	19.7017|19.7017	0.96057|0.96057	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|262;262;297	.|C0IMW5;C0IMW4;Q969G3	.|.;.;SMCE1_HUMAN	T|H	123|297;227;279;262;91	.|ENSP00000323967:R297H;ENSP00000445370:R279H;ENSP00000367039:R262H	.|ENSP00000323967:R297H	A|R	-|-	1|2	0|0	SMARCE1|SMARCE1	36040629|36040629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	6.978000|6.978000	0.76147|0.76147	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.507	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	NM_003079		125	363	0	0	0	1	0	125	363					T	38787103	C	T	38787103	3	4	105	1	0	0	0	0	1	0	0	0	14830	768	27	1	353	1	SMARCE1	17	38787103	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	547002	38787103	42408107	213	35703											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274042	39274042	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggagatgacacaggttgggcGatagcaagtggtgtggcagg	19	5	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:39274042G>T	ENST00000391413.2	-	1	564	c.526C>A	c.(526-528)Cgc>Agc	p.R176S		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	176						keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTTGGGCGATAGCAAGTG	0.652																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(526-528)Cgc>Agc		keratin associated protein 4-11							61	65	64					17																	39274042		692	1590	2282	SO:0001583	missense	653240					keratin filament		g.chr17:39274042G>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"Keratin associated proteins"	18911	protein-coding gene	gene with protein product			"keratin associated protein 4-14"	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.526C>A	17.37:g.39274042G>T	ENSP00000375232:p.Arg176Ser						p.R176S	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	564	-		Breast(137;0.000496)	176					A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.526C>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.70	2.315549	0.40996	.	.	ENSG00000212721	ENST00000391413	T	0.00634	6.07	4.67	4.67	0.58626	.	.	.	.	.	T	0.01695	0.0054	M	0.92169	3.28	0.26903	N	0.967065	B	0.27013	0.166	B	0.19391	0.025	T	0.19128	-1.0315	9	0.45353	T	0.12	.	8.8425	0.35151	0.1037:0.0:0.8963:0.0	.	176	Q9BYQ6	KR411_HUMAN	S	176	ENSP00000375232:R176S	ENSP00000375232:R176S	R	-	1	0	KRTAP4-11	36527568	0.285000	0.24296	0.999000	0.59377	0.950000	0.60333	1.063000	0.30567	2.146000	0.66826	0.609000	0.83330	CGC		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			18	31	1	0	3.62473e-10	1	3.80885e-10	18	31					T	39274042	G	T	39274042	3	4	105	1	0	0	0	0	1	0	0	0	8580	1058	37	3	65	3	KRTAP4-11	17	39274042	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	486939	39274042	41921168	214	35704											
VPS25	84313	broad.mit.edu	37	chr17	40925889	40925889	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcttcaacaacgtcaaGctacagcgtatcctccctca	5	17	4	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr17:40925889G>T	ENST00000253794.2	+	2	232	c.192G>T	c.(190-192)aaG>aaT	p.K64N		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	64					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACAACGTCAAGCTACAGCGTA	0.607																																						ENST00000253794.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5						c.(190-192)aaG>aaT		vacuolar protein sorting 25 homolog (S. cerevisiae)							60	64	62					17																	40925889		2203	4300	6503	SO:0001583	missense	84313				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm		g.chr17:40925889G>T	AB014763	CCDS11438.1	17q21.31	2014-02-12	2006-04-04		ENSG00000131475	ENSG00000131475			28122	protein-coding gene	gene with protein product		610907	"vacuolar protein sorting 25 (yeast)"			15511219	Standard	NM_032353		Approved	MGC10540, EAP20, DERP9	uc002ibi.3	Q9BRG1		ENST00000253794.2:c.192G>T	17.37:g.40925889G>T	ENSP00000253794:p.Lys64Asn						p.K64N	NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	2	232	+		Breast(137;0.00104)	64					B2R581	Missense_Mutation	SNP	ENST00000253794.2	37	c.192G>T	CCDS11438.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419314	0.42918	.	.	ENSG00000131475	ENST00000253794	T	0.45276	0.9	5.64	4.67	0.58626	ESCRT-II complex, Vps25 subunit, N-terminal winged helix (1);	0.048195	0.85682	D	0.000000	T	0.30572	0.0769	L	0.41124	1.26	0.58432	D	0.999997	B	0.27117	0.168	B	0.25759	0.063	T	0.10359	-1.0633	10	0.30854	T	0.27	-27.0428	7.0885	0.25272	0.1496:0.0:0.7087:0.1416	.	64	Q9BRG1	VPS25_HUMAN	N	64	ENSP00000253794:K64N	ENSP00000253794:K64N	K	+	3	2	VPS25	38179415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.207000	0.42788	1.383000	0.46405	0.655000	0.94253	AAG		0.607	VPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452383.1	NM_032353		66	197	1	0	4.83677e-39	1	5.16443e-39	66	197					T	40925889	G	T	40925889	3	4	105	1	0	0	0	0	1	0	0	0	17250	962	34	3	198	3	VPS25	17	40925889	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1651847	40925889	40269321	215	35705											
SMCHD1	23347	broad.mit.edu	37	chr18	2739500	2739500	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	aaacagtacagatgggccaaGagcttcaaggagaagtaggt	13	6	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:2739500G>C	ENST00000320876.6	+	27	3834	c.3496G>C	c.(3496-3498)Gag>Cag	p.E1166Q	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1166					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATGGGCCAAGAGCTTCAAGG	0.338																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(3496-3498)Gag>Cag		structural maintenance of chromosomes flexible hinge domain containing 1							85	77	80					18																	2739500		1842	4084	5926	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2739500G>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3496G>C	18.37:g.2739500G>C	ENSP00000326603:p.Glu1166Gln					SMCHD1_ENST00000261598.8_Missense_Mutation_p.E1166Q|RP11-703M24.5_ENST00000583546.1_RNA	p.E1166Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			27	3834	+			1166					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.3496G>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527477	0.64860	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23552	1.9;1.91	5.61	5.61	0.85477	.	0.195294	0.46758	D	0.000274	T	0.32526	0.0832	L	0.51422	1.61	0.39011	D	0.959543	P	0.45044	0.849	P	0.45377	0.478	T	0.03157	-1.1066	10	0.32370	T	0.25	-17.716	18.627	0.91344	0.0:0.0:1.0:0.0	.	1166	A6NHR9	SMHD1_HUMAN	Q	1166	ENSP00000326603:E1166Q;ENSP00000261598:E1166Q	ENSP00000261598:E1166Q	E	+	1	0	SMCHD1	2729500	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.796000	0.75145	2.642000	0.89623	0.650000	0.86243	GAG		0.338	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			5	132	0	0	0	1	0	5	132					C	2739500	G	C	2739500	3	2	105	1	0	0	0	0	1	0	0	0	14838	943	33	5	3602	5	SMCHD1	18	2739500	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		2739500	75337748	216	35706											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763729	14763729	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgaggctgcacccttggcgGaaagaacacctgacacggct	12	12	0	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763729G>A	ENST00000358984.4	+	7	1045	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E289K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	289										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCTTGGCGGAAAGAACACC	0.478																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(865-867)Gaa>Aaa		ankyrin repeat domain 30B							33	33	33					18																	14763729		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763729G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.865G>A	18.37:g.14763729G>A	ENSP00000351875:p.Glu289Lys					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E289K|ANKRD30B_ENST00000579292.1_Intron	p.E289K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			7	1045	+			289					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.865G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.19	1.282424	0.23392	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.32023	1.52;1.47	0.235	0.235	0.15431	.	.	.	.	.	T	0.17619	0.0423	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.29181	-1.0020	8	0.20519	T	0.43	.	.	.	.	.	289	F8WAG3	.	K	289	ENSP00000351875:E289K;ENSP00000399031:E289K	ENSP00000351875:E289K	E	+	1	0	ANKRD30B	14753729	0.007000	0.16637	0.007000	0.13788	0.007000	0.05969	0.308000	0.19314	0.308000	0.22923	0.313000	0.20887	GAA		0.478	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		59	155	0	0	0	1	0	59	155					A	14763729	G	A	14763729	3	1	105	1	0	0	0	0	1	0	0	0	659	1175	41	2	891	2	ANKRD30B	18	14763729	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	12024229	14763729	63313519	217	35707											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763906	14763906	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggcctacaaaagaaacatctGagaaattttcatggccagca	8	9	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr18:14763906G>A	ENST00000358984.4	+	7	1222	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E348K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	348										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAACATCTGAGAAATTTTC	0.393																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1042-1044)Gag>Aag		ankyrin repeat domain 30B							73	65	68					18																	14763906		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763906G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1042G>A	18.37:g.14763906G>A	ENSP00000351875:p.Glu348Lys					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E348K|ANKRD30B_ENST00000579292.1_Intron	p.E348K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			7	1222	+			348					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1042G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.36	1.329554	0.24167	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.37058	1.22;1.28	0.235	0.235	0.15431	.	.	.	.	.	T	0.23370	0.0565	L	0.47716	1.5	0.09310	N	1	P	0.45594	0.862	B	0.34722	0.188	T	0.12915	-1.0529	8	0.30854	T	0.27	.	.	.	.	.	348	F8WAG3	.	K	348	ENSP00000351875:E348K;ENSP00000399031:E348K	ENSP00000351875:E348K	E	+	1	0	ANKRD30B	14753906	0.019000	0.18553	0.009000	0.14445	0.009000	0.06853	0.308000	0.19314	0.308000	0.22923	0.313000	0.20887	GAG		0.393	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		27	52	0	0	0	1	0	27	52					A	14763906	G	A	14763906	3	1	105	1	0	0	0	0	1	0	0	0	659	1291	45	2	1068	2	ANKRD30B	18	14763906	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	177	14763906	63313342	218	35708											
MADCAM1	8174	broad.mit.edu	37	chr19	501739	501739	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcccgacaccacctccccGgagtctcccgacaccacctc	5	23	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:501739G>A	ENST00000215637.3	+	4	784	c.738G>A	c.(736-738)ccG>ccA	p.P246P	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000587541.1_Silent_p.P27P|MADCAM1_ENST00000346144.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	246	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTCCCCGGAGTCTCCCG	0.682																																						ENST00000587541.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(79-81)ccG>ccA		mucosal vascular addressin cell adhesion molecule 1																																				SO:0001819	synonymous_variant	8174				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane		g.chr19:501739G>A	U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.738G>A	19.37:g.501739G>A						AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000215637.3_Silent_p.P246P	p.P27P			Q13477	MADCA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	935	+		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)	246			Ig-like 1.		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Silent	SNP	ENST00000215637.3	37	c.81G>A	CCDS12028.1																																																																																				0.682	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760		4	183	0	0	0	1	0	4	183					A	501739	G	A	501739	2	1	105	1	0	0	0	0	0	0	0	1	9190	1103	39	1		1	MADCAM1	19	501739	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		501739	58627244	219	35709											
SPPL2B	56928	broad.mit.edu	37	chr19	2341000	2341000	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggtgtggggcgtcttccGcaacgaggaccagtaagtgc	16	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:2341000G>A	ENST00000452401.2	+	0	1021							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|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)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						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)		GGCGTCTTCCGCAACGAGGAC	0.701																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							47	56	53					19																	2341000		2197	4296	6493			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2341000G>A		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"intramembrane protease 4"	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2341000G>A						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	1021	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	ENST00000452401.2	37			.	.	.	.	.	.	.	.	.	.	G	18.35	3.604692	0.66445	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	.	.	.	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84965	0.0879	7	0.87932	D	0	-33.5577	15.6943	0.77481	0.0:0.0:1.0:0.0	.	315;314	Q8TCT7;C9JFE6	PSL1_HUMAN;.	H	314;303	.	ENSP00000371624:R303H	R	+	2	0	AC004410.1	2292000	1.000000	0.71417	0.983000	0.44433	0.048000	0.14542	9.152000	0.94680	2.041000	0.60428	0.561000	0.74099	CGC		0.701	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		7	230	0	0	0	1	0	7	230					A	2341000	G	A	2341000	1	1	105	0	1	0	0	0	0	0	0	0	15141	1087	38	1		1	SPPL2B	19	2341000	RNA	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1839261	2341000	56787983	220	35710											
TNFAIP8L1	126282	broad.mit.edu	37	chr19	4652052	4652052	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cgcagccgcaaggaggcccaGaagatgctcaagaacctggt	13	12	1	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:4652052G>A	ENST00000536716.1	+	2	317	c.171G>A	c.(169-171)caG>caA	p.Q57Q	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	57					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGCCCAGAAGATGCTCA	0.662																																						ENST00000536716.1																			0				endometrium(1)	1						c.(169-171)caG>caA		tumor necrosis factor, alpha-induced protein 8-like 1							57	56	56					19																	4652052		2203	4299	6502	SO:0001819	synonymous_variant	126282							g.chr19:4652052G>A	BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.171G>A	19.37:g.4652052G>A						TNFAIP8L1_ENST00000327473.4_Silent_p.Q57Q	p.Q57Q	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	317	+			57					D6W627	Silent	SNP	ENST00000536716.1	37	c.171G>A	CCDS12132.1																																																																																				0.662	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458662.1	NM_152362		24	74	0	0	0	1	0	24	74					A	4652052	G	A	4652052	2	1	105	1	0	0	0	0	0	0	0	1	16329	933	33	2		2	TNFAIP8L1	19	4652052	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	2311052	4652052	54476931	221	35711											
FBN3	84467	broad.mit.edu	37	chr19	8190815	8190815	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcgtccagcatcaggccctCtggacactcacagcggaaag	12	14	3	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:8190815C>T	ENST00000600128.1	-	22	3106	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	FBN3_ENST00000601739.1_Missense_Mutation_p.E898K|FBN3_ENST00000270509.2_Missense_Mutation_p.E898K			Q75N90	FBN3_HUMAN	fibrillin 3	898	EGF-like 11; 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						ATCAGGCCCTCTGGACACTCA	0.622																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2692-2694)Gag>Aag		fibrillin 3							60	51	54					19																	8190815		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190815C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2692G>A	19.37:g.8190815C>T	ENSP00000470498:p.Glu898Lys					FBN3_ENST00000601739.1_Missense_Mutation_p.E898K|FBN3_ENST00000270509.2_Missense_Mutation_p.E898K	p.E898K			Q75N90	FBN3_HUMAN			22	3106	-			898			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2692G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	4.459	0.085024	0.08583	.	.	ENSG00000142449	ENST00000270509	D	0.92348	-3.02	4.0	-8.0	0.01126	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.296672	0.32884	N	0.005521	T	0.77315	0.4112	N	0.17564	0.495	0.09310	N	1	B	0.22146	0.065	B	0.18561	0.022	T	0.62515	-0.6838	10	0.33940	T	0.23	.	4.9192	0.13862	0.084:0.3077:0.4089:0.1993	.	898	Q75N90	FBN3_HUMAN	K	898	ENSP00000270509:E898K	ENSP00000270509:E898K	E	-	1	0	FBN3	8096815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.712000	0.05013	-2.657000	0.00421	-1.887000	0.00540	GAG		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	297	0	0	0	1	0	10	297					T	8190815	C	T	8190815	3	4	105	1	0	0	0	0	1	0	0	0	5729	922	32	2	5909	2	FBN3	19	8190815	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3538763	8190815	50938168	222	35712											
LPHN1	22859	broad.mit.edu	37	chr19	14266197	14266197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaaggcgcagtgaaagaCgaagatgaagaccccctgga	13	9	0	5	rs536482945		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:14266197C>T	ENST00000340736.6	-	19	3580	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1095					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.V1095I(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGTGAAAGACGAAGATGAAG	0.587																																						ENST00000340736.6																			1	Substitution - Missense(1)	p.V1095I(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3283-3285)Gtc>Atc		latrophilin 1							150	142	145					19																	14266197		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14266197C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3283G>A	19.37:g.14266197C>T	ENSP00000340688:p.Val1095Ile					CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.V1090I	p.V1095I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			19	3580	-			1095					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3283G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	5.280	0.237123	0.10023	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.41065	1.01;1.01	5.21	4.18	0.49190	GPCR, family 2-like (1);GPCR, family 2, secretin-like, conserved site (1);	0.070788	0.56097	D	0.000027	T	0.13200	0.0320	N	0.01529	-0.815	0.40998	D	0.984908	B;B	0.10296	0.003;0.003	B;B	0.12837	0.008;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	7.6688	0.28447	0.0:0.8111:0.0:0.1889	.	1090;1095	O94910-2;O94910	.;LPHN1_HUMAN	I	1095;1090	ENSP00000340688:V1095I;ENSP00000355328:V1090I	ENSP00000340688:V1095I	V	-	1	0	LPHN1	14127197	0.986000	0.35501	0.984000	0.44739	0.998000	0.95712	2.344000	0.44010	1.184000	0.42957	0.561000	0.74099	GTC		0.587	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		188	364	0	0	0	1	0	188	364					T	14266197	C	T	14266197	3	4	105	1	0	0	0	0	1	0	0	0	8953	536	19	1	1165	1	LPHN1	19	14266197	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	6075382	14266197	44862786	223	35713											
NOTCH3	4854	broad.mit.edu	37	chr19	15271827	15271827	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taaggcgggggccgctcctgCggggagacgggggtccctgg	21	11	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15271827C>T	ENST00000263388.2	-	33	6687	c.6612G>A	c.(6610-6612)ccG>ccA	p.P2204P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2204					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)			GCCGCTCCTGCGGGGAGACGG	0.741																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6610-6612)ccG>ccA		notch 3							3	5	4					19																	15271827		1881	3842	5723	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271827C>T	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.6612G>A	19.37:g.15271827C>T							p.P2204P	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6687	-			2204					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.6612G>A	CCDS12326.1																																																																																				0.741	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	33	0	0	0	1	0	6	33					T	15271827	C	T	15271827	2	4	105	1	0	0	0	0	0	0	0	1	10592	755	27	1		1	NOTCH3	19	15271827	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	1005630	15271827	43857156	224	35714											
CYP4F12	66002	broad.mit.edu	37	chr19	15806854	15806854	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcacccaggacattgttctCccagatggccgagtcatccc	9	15	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:15806854C>T	ENST00000550308.1	+	10	1604	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	CYP4F12_ENST00000324632.10_Silent_p.L408L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	408					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)	ACATTGTTCTCCCAGATGGCC	0.612																																						ENST00000550308.1																			0				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						c.(1222-1224)ctC>ctT		cytochrome P450, family 4, subfamily F, polypeptide 12							85	85	85					19																	15806854		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15806854C>T	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.1224C>T	19.37:g.15806854C>T						CYP4F12_ENST00000324632.9_Silent_p.L408L	p.L408L	NM_023944.3	NP_076433.3					10	1604	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1224C>T	CCDS42517.1																																																																																				0.612	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			5	457	0	0	0	1	0	5	457					T	15806854	C	T	15806854	2	4	105	1	0	0	0	0	0	0	0	1	4198	842	30	2		2	CYP4F12	19	15806854	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	535027	15806854	43322129	225	35715											
ATP4A	495	broad.mit.edu	37	chr19	36043993	36043993	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtggtggtcctcccactgCgcccgcagccccacgcacag	12	18	0	0	rs200535073		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	899					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCTCCCACTGCGCCCGCAGCC	0.647																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2695-2697)gcG>gcA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						93	89	90					19																	36043993		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36043993C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2697G>A	19.37:g.36043993C>T							p.A899A	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2725	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		899					O00738	Silent	SNP	ENST00000262623.3	37	c.2697G>A	CCDS12467.1																																																																																				0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		9	757	0	0	0	1	0	9	757					T	36043993	C	T	36043993	2	4	105	1	0	0	0	0	0	0	0	1	1146	755	27	1		1	ATP4A	19	36043993	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	20237139	36043993	23084990	226	35716											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271129	36271129	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggacaatcacggccGgcgactgctcctcagtgagg	13	13	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36271129G>A	ENST00000007510.4	+	7	662	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R37Q			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	173					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)	p.R173Q(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AATCACGGCCGGCGACTGCTC	0.592																																						ENST00000007510.4																			1	Substitution - Missense(1)	p.R173Q(1)	lung(1)	endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(517-519)cGg>cAg		Rho GTPase activating protein 33							78	70	73					19																	36271129		2203	4300	6503	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36271129G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.518G>A	19.37:g.36271129G>A	ENSP00000007510:p.Arg173Gln					ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R173Q|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R37Q	p.R173Q			O14559	RHG33_HUMAN			7	662	+			173					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.518G>A		.	.	.	.	.	.	.	.	.	.	G	25.0	4.590020	0.86851	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.11930	3.08;2.73;3.15	4.84	3.8	0.43715	.	0.305936	0.23487	N	0.047642	T	0.21267	0.0512	L	0.49126	1.545	0.30529	N	0.767663	D;D	0.71674	0.998;0.974	P;P	0.58721	0.844;0.466	T	0.04537	-1.0944	10	0.54805	T	0.06	.	5.6018	0.17357	0.2761:0.0:0.7239:0.0	.	37;173	O14559-10;O14559-11	.;.	Q	173;173;37	ENSP00000007510:R173Q;ENSP00000320038:R173Q;ENSP00000368227:R37Q	ENSP00000007510:R173Q	R	+	2	0	ARHGAP33	40962969	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.552000	0.67281	2.227000	0.72691	0.561000	0.74099	CGG		0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		5	544	0	0	0	1	0	5	544					A	36271129	G	A	36271129	3	1	105	1	0	0	0	0	1	0	0	0	882	1116	39	1	544	1	ARHGAP33	19	36271129	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	227136	36271129	22857854	227	35717											
PRODH2	58510	broad.mit.edu	37	chr19	36303061	36303061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccgagtactggtcagcgccGtcaccttcagctgcatgagg	13	13	3	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:36303061G>A	ENST00000301175.3	-	4	730	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	238					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)			GGTCAGCGCCGTCACCTTCAG	0.687																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(712-714)aCg>aTg		proline dehydrogenase (oxidase) 2							53	58	56					19																	36303061		2203	4300	6503	SO:0001583	missense	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303061G>A	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.713C>T	19.37:g.36303061G>A	ENSP00000301175:p.Thr238Met						p.T238M	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	730	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		238						Missense_Mutation	SNP	ENST00000301175.3	37	c.713C>T	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186150	0.78789	.	.	ENSG00000250799	ENST00000301175	T	0.41065	1.01	4.85	4.85	0.62838	.	.	.	.	.	T	0.62986	0.2473	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.66925	-0.5800	9	0.66056	D	0.02	.	15.5053	0.75735	0.0:0.0:1.0:0.0	.	238	Q9UF12	PROD2_HUMAN	M	238	ENSP00000301175:T238M	ENSP00000301175:T238M	T	-	2	0	PRODH2	40994901	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	7.408000	0.80041	2.531000	0.85337	0.655000	0.94253	ACG		0.687	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		23	481	0	0	0	1	0	23	481					A	36303061	G	A	36303061	3	1	105	1	0	0	0	0	1	0	0	0	12596	1145	40	1	929	1	PRODH2	19	36303061	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	31932	36303061	22825922	228	35718											
SIPA1L3	23094	broad.mit.edu	37	chr19	38682812	38682812	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gacacgaacaccaaaaatgtCtttgggcaaccgaggttgag	11	9	1	1	rs569236464		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:38682812C>T	ENST00000222345.6	+	17	4967	c.4458C>T	c.(4456-4458)gtC>gtT	p.V1486V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1486					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)			CCAAAAATGTCTTTGGGCAAC	0.522																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4456-4458)gtC>gtT		signal-induced proliferation-associated 1 like 3							112	93	99					19																	38682812		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38682812C>T	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.4458C>T	19.37:g.38682812C>T							p.V1486V	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		17	4967	+			1486					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4458C>T	CCDS33007.1																																																																																				0.522	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		58	233	0	0	0	1	0	58	233					T	38682812	C	T	38682812	2	4	105	1	0	0	0	0	0	0	0	1	14381	900	32	2		2	SIPA1L3	19	38682812	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2379751	38682812	20446171	229	35719											
RYR1	6261	broad.mit.edu	37	chr19	39075614	39075614	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacatgtacgtgggtgtccGggctggcggaggcattgggg	19	8	1	0	rs118192151		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:39075614G>A	ENST00000359596.3	+	102	14678	c.14678G>A	c.(14677-14679)cGg>cAg	p.R4893Q	RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q|RYR1_ENST00000355481.4_Missense_Mutation_p.R4888Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4893			R -> Q (in CCD). {ECO:0000269|PubMed:12565913}.|R -> W (in CCD; release of calcium from intracellular stores in the absence of any pharmacological activator of RYR; smaller thapsigargin-sensitive intracellular calcium stores; normal sensitivity of the calcium release to the RYR inhibitor dantrolene). {ECO:0000269|PubMed:11709545, ECO:0000269|PubMed:14670767}.		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)	GTGGGTGTCCGGGCTGGCGGA	0.572																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	GRCh37	CM030713|CM061940	RYR1	M	rs118192151	c.(14662-14664)cGg>cAg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						189	159	169					19																	39075614		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39075614G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14678G>A	19.37:g.39075614G>A	ENSP00000352608:p.Arg4893Gln					RYR1_ENST00000360985.3_Missense_Mutation_p.R4888Q|RYR1_ENST00000359596.3_Missense_Mutation_p.R4893Q	p.R4888Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		101	14794	+	all_cancers(60;7.91e-06)		4893					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14663G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959539	0.74016	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.94457	-3.43;-3.43;-3.43	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.64402	U	0.000015	D	0.98086	0.9369	M	0.94142	3.5	0.52501	D	0.999954	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	D	0.99081	1.0837	10	0.87932	D	0	.	18.3248	0.90250	0.0:0.0:1.0:0.0	.	4888;4893	P21817-2;P21817	.;RYR1_HUMAN	Q	4893;4888;4888	ENSP00000352608:R4893Q;ENSP00000347667:R4888Q;ENSP00000354254:R4888Q	ENSP00000347667:R4888Q	R	+	2	0	RYR1	43767454	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.656000	0.98514	2.658000	0.90341	0.449000	0.29647	CGG		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			37	260	0	0	0	1	0	37	260					A	39075614	G	A	39075614	3	1	105	1	0	0	0	0	1	0	0	0	13818	1116	39	1	15084	1	RYR1	19	39075614	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	392802	39075614	20053369	230	35720											
CYP2A6	1548	broad.mit.edu	37	chr19	41351245	41351245	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtgtcctttttgactctgCgggccaaactcatggggatc	12	10	2	1	rs145036049		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41351245C>T	ENST00000301141.5	-	7	1135	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	372					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TTTGACTCTGCGGGCCAAACT	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17968	0.0		0.0	False		,,,				2504	0.0					ENST00000301141.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37						c.(1114-1116)cGc>cAc		cytochrome P450, family 2, subfamily A, polypeptide 6	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	C	HIS/ARG	1,4405		0,1,2202	118	114	116		1115	0.6	0.1	19	dbSNP_134	116	0,8600		0,0,4300	no	missense	CYP2A6	NM_000762.5	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	372/495	41351245	1,13005	2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351245C>T	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"Cytochrome P450s"	2610	protein-coding gene	gene with protein product		122720	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1115G>A	19.37:g.41351245C>T	ENSP00000301141:p.Arg372His					CTC-490E21.12_ENST00000601627.1_Intron	p.R372H	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1135	-			372					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.1115G>A	CCDS12568.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	0.014	-1.595383	0.00857	2.27E-4	0.0	ENSG00000255974	ENST00000301141	T	0.77877	-1.13	2.76	0.567	0.17325	.	0.199062	0.42821	N	0.000649	T	0.50871	0.1641	N	0.02973	-0.45	0.09310	N	1	B;B	0.32693	0.105;0.38	B;B	0.43413	0.046;0.419	T	0.55885	-0.8070	10	0.02654	T	1	.	4.58	0.12253	0.0:0.4325:0.0:0.5675	.	372;372	Q13120;P11509	.;CP2A6_HUMAN	H	372	ENSP00000301141:R372H	ENSP00000301141:R372H	R	-	2	0	CYP2A6	46043085	0.000000	0.05858	0.056000	0.19401	0.181000	0.23173	-1.136000	0.03222	0.446000	0.26666	0.379000	0.24179	CGC		0.572	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		6	762	0	0	0	1	0	6	762					T	41351245	C	T	41351245	3	4	105	1	0	0	0	0	1	0	0	0	4173	768	27	1	381	1	CYP2A6	19	41351245	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2275631	41351245	17777738	231	35721											
EXOSC5	56915	broad.mit.edu	37	chr19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaggttctgttcgcagGcaaagtgccggaggctgcag	15	10	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	BCKDHA_ENST00000457836.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					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						CTGTTCGCAGGCAAAGTGCCG	0.582																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(94-96)gCc>gTc		exosome component 5							129	122	124					19																	41903139		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903139G>A	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.95C>T	19.37:g.41903139G>A	ENSP00000221233:p.Ala32Val					EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.A32V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			1	245	-			32					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.95C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819174	0.50633	.	.	ENSG00000077348	ENST00000221233	T	0.63580	-0.05	5.55	4.52	0.55395	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	N	0.000054	T	0.36963	0.0986	N	0.05351	-0.065	0.38224	D	0.940854	B	0.26547	0.152	B	0.17098	0.017	T	0.32322	-0.9911	10	0.31617	T	0.26	-17.2989	8.2921	0.31963	0.1727:0.0:0.8273:0.0	.	32	Q9NQT4	EXOS5_HUMAN	V	32	ENSP00000221233:A32V	ENSP00000221233:A32V	A	-	2	0	EXOSC5	46594979	0.997000	0.39634	0.992000	0.48379	0.964000	0.63967	2.911000	0.48774	1.579000	0.49836	0.590000	0.80494	GCC		0.582	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		7	739	0	0	0	1	0	7	739					A	41903139	G	A	41903139	3	1	105	1	0	0	0	0	1	0	0	0	5336	1203	42	2	636	2	EXOSC5	19	41903139	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	551894	41903139	17225844	232	35722											
ERF	2077	broad.mit.edu	37	chr19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-													gcttaaacttgaatggggagGaagaagaagaagaggatgac					rs199960550		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.68	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		9	794						9	794	---	---	---	---	-	42753151	GAA	-	42753149	7	5	105	1	0	1	0	1	0	0	0	0	5239	1174	41	0	535	0	ERF	19	42753149	In_Frame_Del	DEL	GAA	TCGA-OE-A75W-01A-12D-A32N-08	850010	42753149	16375834	233	35723											
CADM4	199731	broad.mit.edu	37	chr19	44131875	44131875	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatcatactggtgcagacgGcaggtgatctcagccacccc	10	15	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:44131875G>A	ENST00000222374.2	-	2	180	c.132C>T	c.(130-132)tgC>tgT	p.C44C	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	44	Ig-like V-type.				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)				GGTGCAGACGGCAGGTGATCT	0.562																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(130-132)tgC>tgT		cell adhesion molecule 4							261	220	234					19																	44131875		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44131875G>A	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.132C>T	19.37:g.44131875G>A							p.C44C	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN			2	180	-		Prostate(69;0.0199)	44			Ig-like V-type.		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.132C>T	CCDS12627.1																																																																																				0.562	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		7	996	0	0	0	1	0	7	996					A	44131875	G	A	44131875	2	1	105	1	0	0	0	0	0	0	0	1	2576	1195	42	2		2	CADM4	19	44131875	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	1378726	44131875	14997108	234	35724											
CD33	945	broad.mit.edu	37	chr19	51728379	51728379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctgcttcctcagacatgcCgctgctgctactgctgcccc	9	17	1	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:51728379C>T	ENST00000262262.4	+	1	26	c.5C>T	c.(4-6)cCg>cTg	p.P2L	CD33_ENST00000436584.2_Missense_Mutation_p.P2L|CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000391796.3_Missense_Mutation_p.P2L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	2					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCAGACATGCCGCTGCTGCTA	0.652																																						ENST00000436584.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24						c.(4-6)cCg>cTg		CD33 molecule	Gemtuzumab ozogamicin(DB00056)						36	37	36					19																	51728379		2203	4300	6503	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728379C>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.5C>T	19.37:g.51728379C>T	ENSP00000262262:p.Pro2Leu					CD33_ENST00000262262.4_Missense_Mutation_p.P2L|CD33_ENST00000421133.2_Missense_Mutation_p.P2L|CD33_ENST00000391796.3_Missense_Mutation_p.P2L	p.P2L			P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	1	60	+		all_neural(266;0.0199)	2					B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.5C>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	5.629	0.300790	0.10678	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	T;T;T;T	0.39592	1.07;2.53;1.38;2.41	3.75	-4.49	0.03504	.	.	.	.	.	T	0.11793	0.0287	N	0.02192	-0.645	0.09310	N	1	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.28106	-1.0054	9	0.02654	T	1	.	5.3402	0.15979	0.0:0.2105:0.3616:0.4279	.	2;2;2	C9JEN7;F8WAL2;P20138	.;.;CD33_HUMAN	L	2	ENSP00000403331:P2L;ENSP00000262262:P2L;ENSP00000410126:P2L;ENSP00000375673:P2L	ENSP00000262262:P2L	P	+	2	0	CD33	56420191	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.283000	0.01155	-1.134000	0.02899	-1.099000	0.02127	CCG		0.652	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2	NM_001772		20	202	0	0	0	1	0	20	202					T	51728379	C	T	51728379	3	4	105	1	0	0	0	0	1	0	0	0	3014	652	23	1	7	1	CD33	19	51728379	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	7596504	51728379	7400604	235	35725											
NLRP9	338321	broad.mit.edu	37	chr19	56243922	56243922	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatacccacccacatcacGccctcagactcagataaccc	3	20	4	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:56243922G>A	ENST00000332836.2	-	2	1302	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	425	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		G -> D (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			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)		CCCACATCACGCCCTCAGACT	0.473																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1273-1275)ggC>ggT		NLR family, pyrin domain containing 9							98	99	99					19																	56243922		2203	4300	6503	SO:0001819	synonymous_variant	338321					cytoplasm	ATP binding	g.chr19:56243922G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1275C>T	19.37:g.56243922G>A							p.G425G	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1302	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	425		G -> D (in a breast cancer sample; somatic mutation).	NACHT.		B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	c.1275C>T	CCDS12934.1																																																																																				0.473	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		185	492	0	0	0	1	0	185	492					A	56243922	G	A	56243922	2	1	105	1	0	0	0	0	0	0	0	1	10526	1074	38	1		1	NLRP9	19	56243922	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	4515543	56243922	2885061	236	35726											
ZNF471	57573	broad.mit.edu	37	chr19	57036821	57036821	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaccgtatgaatgcaAggaatgtgggaaagccttta	12	5	0	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr19:57036821A>T	ENST00000308031.5	+	5	1518	c.1385A>T	c.(1384-1386)aAg>aTg	p.K462M	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		TATGAATGCAAGGAATGTGGG	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			0				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						c.(1384-1386)aAg>aTg		zinc finger protein 471							87	83	84					19																	57036821		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57036821A>T	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.1385A>T	19.37:g.57036821A>T	ENSP00000309161:p.Lys462Met					ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	p.K462M	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1518	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	462					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1385A>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089753	0.36855	.	.	ENSG00000196263	ENST00000308031	T	0.08193	3.12	3.66	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19446	0.0467	M	0.68317	2.08	0.09310	N	0.999999	D	0.69078	0.997	P	0.62649	0.905	T	0.09015	-1.0694	9	0.56958	D	0.05	.	4.605	0.12372	0.6982:0.1949:0.1069:0.0	.	462	Q9BX82	ZN471_HUMAN	M	462	ENSP00000309161:K462M	ENSP00000309161:K462M	K	+	2	0	ZNF471	61728633	0.000000	0.05858	0.954000	0.39281	0.962000	0.63368	-1.500000	0.02283	0.496000	0.27904	0.379000	0.24179	AAG		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		37	544	0	0	0	1	0	37	544					T	57036821	A	T	57036821	3	4	105	1	0	0	0	0	1	0	0	0	17983	72	3	5	1399	5	ZNF471	19	57036821	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	792899	57036821	2092162	237	35727											
C20orf96	140680	broad.mit.edu	37	chr20	257686	257686	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcaactggctactcaccGccaccacagaactcagaatt	6	15	2	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000400269.3_Splice_Site_p.A217V|C20orf96_ENST00000382369.5_Splice_Site_p.A240V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										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)			GCTACTCACCGCCACCACAGA	0.572																																						ENST00000360321.2																			0				endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12						c.e8+1		chromosome 20 open reading frame 96							121	135	130					20																	257686		2203	4300	6503	SO:0001630	splice_region_variant	140680							g.chr20:257686G>A	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.825+1C>T	20.37:g.257686G>A						C20orf96_ENST00000400269.3_Splice_Site_p.A217_splice|C20orf96_ENST00000382369.5_Splice_Site_p.A240_splice	p.A275_splice	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		8	962	-		all_cancers(10;0.00959)|Lung NSC(37;0.227)	275					A3KPE0|B2RPH9|Q8N840|Q8NAX5	Splice_Site	SNP	ENST00000360321.2	37	c.825_splice	CCDS12994.1	.	.	.	.	.	.	.	.	.	.	G	2.159	-0.392647	0.04899	.	.	ENSG00000196476	ENST00000382369;ENST00000360321;ENST00000400269	T;T;T	0.40225	1.04;1.04;1.04	4.52	-5.41	0.02648	.	1.137630	0.06635	N	0.759972	T	0.10508	0.0257	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.20052	0.041;0.041;0.015;0.041	B;B;B;B	0.11329	0.006;0.006;0.003;0.006	T	0.28744	-1.0034	10	0.02654	T	1	-0.4171	4.6073	0.12383	0.2215:0.0:0.1966:0.5818	.	217;240;275;240	F5GZA9;B7Z971;Q9NUD7;Q5JYC3	.;.;CT096_HUMAN;.	V	240;275;217	ENSP00000371806:A240V;ENSP00000353470:A275V;ENSP00000383128:A217V	ENSP00000353470:A275V	A	-	2	0	C20orf96	205686	0.002000	0.14202	0.026000	0.17262	0.173000	0.22820	-0.258000	0.08733	-0.734000	0.04843	0.313000	0.20887	GCG		0.572	C20orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077439.2	NM_153269	Missense_Mutation	7	981	0	0	0	1	0	7	981					A	257686	G	A	257686	5	1	105	1	0	0	0	0	0	0	1	0	2129	1101	38	1	283	1	C20orf96	20	257686	Splice_Site	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		257686	62767834	238	35728											
TASP1	55617	broad.mit.edu	37	chr20	13514683	13514683	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttacctgcccaactctccCcggatgtttcaaggccaagc	7	16	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:13514683C>T	ENST00000337743.4	-	9	901	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	261					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						CCAACTCTCCCCGGATGTTTC	0.463																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(781-783)Ggg>Agg		taspase, threonine aspartase, 1							105	105	105					20																	13514683		2203	4300	6503	SO:0001583	missense	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13514683C>T	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.781G>A	20.37:g.13514683C>T	ENSP00000338624:p.Gly261Arg					TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	p.G261R	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			9	901	-			261					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	ENST00000337743.4	37	c.781G>A	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976123	0.92982	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.97529	-4.42;-4.42	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98931	1.0787	10	0.87932	D	0	-9.528	19.3476	0.94372	0.0:1.0:0.0:0.0	.	261;238	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	R	238;261;238	ENSP00000338624:G261R;ENSP00000400580:G238R	ENSP00000338624:G261R	G	-	1	0	TASP1	13462683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.031000	0.76491	2.666000	0.90696	0.563000	0.77884	GGG		0.463	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		39	547	0	0	0	1	0	39	547					T	13514683	C	T	13514683	3	4	105	1	0	0	0	0	1	0	0	0	15641	623	22	2	505	2	TASP1	20	13514683	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	13256997	13514683	49510837	239	35729											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232202	32232202	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cgagacatgcagtggctgcaAtatcgcgcgatactgtggct	13	10	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:32232202A>T	ENST00000346541.3	+	12	2102	c.1565A>T	c.(1564-1566)aAt>aTt	p.N522I	CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.N513I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	522					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						AGTGGCTGCAATATCGCGCGA	0.602																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1564-1566)aAt>aTt		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							75	71	73					20																	32232202		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32232202A>T	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.1565A>T	20.37:g.32232202A>T	ENSP00000262653:p.Asn522Ile					CBFA2T2_ENST00000375279.2_Missense_Mutation_p.N522I|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.N513I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.N493I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.N532I|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.N70I	p.N522I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			12	2102	+			522					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.1565A>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	A	31	5.091645	0.94149	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606;ENST00000543126	T;T;T;T;T	0.51325	0.71;0.72;0.71;0.72;1.3	5.79	5.79	0.91817	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.74518	-0.3639	10	0.87932	D	0	-4.7166	16.1193	0.81336	1.0:0.0:0.0:0.0	.	522;513	O43439;F8W6D7	MTG8R_HUMAN;.	I	296;522;513;522;493;532;70	ENSP00000364428:N522I;ENSP00000345810:N513I;ENSP00000262653:N522I;ENSP00000380902:N493I;ENSP00000352622:N532I	ENSP00000345810:N513I	N	+	2	0	CBFA2T2	31695863	1.000000	0.71417	0.996000	0.52242	0.903000	0.53119	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	AAT		0.602	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		125	366	0	0	0	1	0	125	366					T	32232202	A	T	32232202	3	4	105	1	0	0	0	0	1	0	0	0	2704	101	4	5	1645	5	CBFA2T2	20	32232202	Missense_Mutation	SNP	A	TCGA-OE-A75W-01A-12D-A32N-08	18717519	32232202	30793318	240	35730											
CDH4	1002	broad.mit.edu	37	chr20	60448850	60448850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccaacgggatggtgcGgtaccggatcgtgacccaga	15	12	0	2	rs371856199		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr20:60448850G>A	ENST00000360469.5	+	7	1032	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGATGGTGCGGTACCGGATC	0.612																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(943-945)cGg>cAg		cadherin 4, type 1, R-cadherin (retinal)		G	GLN/ARG	0,4406		0,0,2203	163	127	139		944	4	1	20		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH4	NM_001794.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	315/917	60448850	1,13005	2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60448850G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.944G>A	20.37:g.60448850G>A	ENSP00000353656:p.Arg315Gln					CDH4_ENST00000543233.1_Missense_Mutation_p.R241Q	p.R315Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		7	1032	+			315			Cadherin 2.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.944G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949030	0.73787	0.0	1.16E-4	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53206	0.63;0.63	4.92	3.97	0.46021	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.45816	0.1361	L	0.58354	1.805	0.36334	D	0.859075	D	0.53745	0.962	P	0.46208	0.507	T	0.54886	-0.8226	9	.	.	.	.	8.4155	0.32668	0.0789:0.0:0.7685:0.1527	.	315	P55283	CADH4_HUMAN	Q	315;223;241	ENSP00000353656:R315Q;ENSP00000443301:R241Q	.	R	+	2	0	CDH4	59882245	1.000000	0.71417	0.967000	0.41034	0.735000	0.41995	6.559000	0.73946	1.068000	0.40764	0.585000	0.79938	CGG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		5	601	0	0	0	1	0	5	601					A	60448850	G	A	60448850	3	1	105	1	0	0	0	0	1	0	0	0	3121	1116	39	1	970	1	CDH4	20	60448850	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	28216648	60448850	2576670	241	35731											
GCFC1	94104	broad.mit.edu	37	chr21	34132166	34132166	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gagttttgaaagggactgtaTtatctgttttttgagatttg	11	2	1	2			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34132166T>C	ENST00000331923.4	-	6	1304	c.1115A>G	c.(1114-1116)aAt>aGt	p.N372S	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.N372S	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	372					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)										AGGGACTGTATTATCTGTTTT	0.398																																						ENST00000331923.4																			0											c.(1114-1116)aAt>aGt		PAX3 and PAX7 binding protein 1							186	185	186					21																	34132166		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34132166T>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1115A>G	21.37:g.34132166T>C	ENSP00000328992:p.Asn372Ser					PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.N372S	p.N372S	NM_016631.3	NP_057715.2					6	1304	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1115A>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431418	0.43122	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.30981	1.94;1.51	5.8	5.8	0.92144	.	0.200313	0.53938	D	0.000047	T	0.34019	0.0883	L	0.29908	0.895	0.51012	D	0.999907	D;B	0.54601	0.967;0.336	P;B	0.55391	0.775;0.047	T	0.04255	-1.0965	10	0.08179	T	0.78	-33.6679	15.8075	0.78527	0.0:0.0:0.0:1.0	.	372;372	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	S	372	ENSP00000328992:N372S;ENSP00000290178:N372S	ENSP00000290178:N372S	N	-	2	0	GCFC1	33054037	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.975000	0.56859	2.216000	0.71823	0.460000	0.39030	AAT		0.398	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		6	441	0	0	0	1	0	6	441					C	34132166	T	C	34132166	3	2	105	1	0	0	0	0	1	0	0	0	6317	1493	52	4	1808	4	GCFC1	21	34132166	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08		34132166	13997729	242	35732											
GCFC1	94104	broad.mit.edu	37	chr21	34132185	34132185	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatctgttttttgagattTggcatctgatgatccatagg	9	5	2	3			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34132185T>C	ENST00000331923.4	-	6	1285	c.1096A>G	c.(1096-1098)Aaa>Gaa	p.K366E	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.K366E	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	366					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)										TTTTGAGATTTGGCATCTGAT	0.388																																						ENST00000331923.4																			0											c.(1096-1098)Aaa>Gaa		PAX3 and PAX7 binding protein 1							169	170	170					21																	34132185		2203	4300	6503	SO:0001583	missense	94104							g.chr21:34132185T>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1096A>G	21.37:g.34132185T>C	ENSP00000328992:p.Lys366Glu					PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.K366E	p.K366E	NM_016631.3	NP_057715.2					6	1285	-								D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1096A>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	T	18.29	3.592408	0.66219	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.32272	1.88;1.46	5.79	5.79	0.91817	.	0.155205	0.56097	D	0.000026	T	0.43344	0.1243	L	0.40543	1.245	0.58432	D	0.999999	D;P	0.71674	0.998;0.664	D;B	0.78314	0.991;0.201	T	0.17289	-1.0374	10	0.08381	T	0.77	-26.3017	15.7939	0.78394	0.0:0.0:0.0:1.0	.	366;366	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	E	366	ENSP00000328992:K366E;ENSP00000290178:K366E	ENSP00000290178:K366E	K	-	1	0	GCFC1	33054056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.748000	0.68697	2.219000	0.72066	0.460000	0.39030	AAA		0.388	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		6	400	0	0	0	1	0	6	400					C	34132185	T	C	34132185	3	2	105	1	0	0	0	0	1	0	0	0	6317	1821	63	4	1827	4	GCFC1	21	34132185	Missense_Mutation	SNP	T	TCGA-OE-A75W-01A-12D-A32N-08	19	34132185	13997710	243	35733											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		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.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			9	1106						9	1106	---	---	---	---	-	34799292	T	-	34799292	7	5	105	1	0	1	0	1	0	0	0	0	7580	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	667107	34799292	13330603	244	35734											
COL6A2	1292	broad.mit.edu	37	chr21	47532333	47532333	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcccgcgaggagggcatcCggctcttcgccgtggccccc	16	17	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47532333C>A	ENST00000300527.4	+	3	660	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	COL6A2_ENST00000310645.5_Silent_p.R186R|COL6A2_ENST00000357838.4_Silent_p.R186R|COL6A2_ENST00000409416.1_Silent_p.R186R|COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000397763.1_Silent_p.R186R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	186	Nonhelical region.|VWFA 1. {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)		GGAGGGCATCCGGCTCTTCGC	0.701																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(556-558)Cgg>Agg		collagen, type VI, alpha 2							14	21	19					21																	47532333		2185	4265	6450	SO:0001819	synonymous_variant	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47532333C>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.556C>A	21.37:g.47532333C>A						COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000310645.5_Silent_p.R186R|COL6A2_ENST00000357838.4_Silent_p.R186R|COL6A2_ENST00000409416.1_Silent_p.R186R|COL6A2_ENST00000397763.1_Silent_p.R186R	p.R186R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	660	+	Breast(49;0.245)		186			Nonhelical region.|VWFA 1.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	ENST00000300527.4	37	c.556C>A	CCDS13728.1																																																																																				0.701	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			4	82	1	0	0.150653	1	0.151569	4	82					A	47532333	C	A	47532333	2	1	105	1	0	0	0	0	0	0	0	1	3709	643	23	3		3	COL6A2	21	47532333	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	12733041	47532333	597562	245	35735											
C21orf56	84221	broad.mit.edu	37	chr21	47581948	47581948	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgatctcgcccaccacgcgcGcgtccttctcggcgcccgcg	11	21	2	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr21:47581948G>A	ENST00000291672.5	-	4	1639	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SPATC1L_ENST00000330205.6_Missense_Mutation_p.A39V	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	193																	CACCACGCGCGCGTCCTTCTC	0.697																																						ENST00000291672.5																			0											c.(577-579)gCg>gTg		spermatogenesis and centriole associated 1-like							22	18	20					21																	47581948		2184	4284	6468	SO:0001583	missense	84221							g.chr21:47581948G>A	BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.578C>T	21.37:g.47581948G>A	ENSP00000291672:p.Ala193Val					SPATC1L_ENST00000330205.6_Missense_Mutation_p.A39V	p.A193V	NM_001142854.1	NP_001136326.1					4	1639	-								B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	ENST00000291672.5	37	c.578C>T	CCDS46653.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433928	0.43224	.	.	ENSG00000160284	ENST00000330205;ENST00000291672	T;T	0.44482	0.92;1.52	4.1	3.19	0.36642	.	0.295993	0.24231	N	0.040356	T	0.19046	0.0457	N	0.08118	0	0.09310	N	0.999998	P	0.35155	0.487	B	0.19391	0.025	T	0.08617	-1.0713	10	0.48119	T	0.1	-23.1208	10.7349	0.46120	0.0:0.76:0.24:0.0	.	193	Q9H0A9	CU056_HUMAN	V	39;193	ENSP00000333869:A39V;ENSP00000291672:A193V	ENSP00000291672:A193V	A	-	2	0	C21orf56	46406376	0.006000	0.16342	0.896000	0.35187	0.937000	0.57800	1.962000	0.40442	0.684000	0.31448	-0.211000	0.12701	GCG		0.697	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376654.1	NM_032261		22	36	0	0	0	1	0	22	36					A	47581948	G	A	47581948	3	1	105	1	0	0	0	0	1	0	0	0	2134	1087	38	1	452	1	C21orf56	21	47581948	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	49615	47581948	547947	246	35736											
DGCR8	54487	broad.mit.edu	37	chr22	20096497	20096497	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acatcctcagcaagctccaaGaggagatgaagaggctagct	11	10	1	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:20096497G>A	ENST00000351989.3	+	13	2638	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K|AC006547.8_ENST00000412713.1_RNA|DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	737	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAAGCTCCAAGAGGAGATGAA	0.577																																						ENST00000351989.3																			0				NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2209-2211)Gag>Aag		DGCR8 microprocessor complex subunit							153	120	131					22																	20096497		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20096497G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.2209G>A	22.37:g.20096497G>A	ENSP00000263209:p.Glu737Lys					DGCR8_ENST00000383024.2_Missense_Mutation_p.E704K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E704K	p.E737K	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN			13	2638	+	Colorectal(54;0.0993)		737			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.2209G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181797	0.94885	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.33216	1.42;1.51;1.51	5.22	5.22	0.72569	.	0.048942	0.85682	D	0.000000	T	0.45115	0.1326	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.996;0.99	D;P	0.76071	0.987;0.824	T	0.21314	-1.0249	10	0.33141	T	0.24	-10.5121	17.5395	0.87843	0.0:0.0:1.0:0.0	.	704;737	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	K	737;704;704	ENSP00000263209:E737K;ENSP00000372488:E704K;ENSP00000384726:E704K	ENSP00000263209:E737K	E	+	1	0	DGCR8	18476497	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.096000	0.94182	2.428000	0.82296	0.462000	0.41574	GAG		0.577	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			9	351	0	0	0	1	0	9	351					A	20096497	G	A	20096497	3	1	105	1	0	0	0	0	1	0	0	0	4480	943	33	2	2255	2	DGCR8	22	20096497	Missense_Mutation	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08		20096497	31208069	247	35737											
ZNF70	7621	broad.mit.edu	37	chr22	24086056	24086056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcccccggaaggacttgccGcacagattgcacacgtaggg	12	14	0	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:24086056G>A	ENST00000341976.3	-	2	1732	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	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)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						AGGACTTGCCGCACAGATTGC	0.547																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(1270-1272)tgC>tgT		zinc finger protein 70							113	111	112					22																	24086056		2203	4300	6503	SO:0001819	synonymous_variant	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24086056G>A	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.1272C>T	22.37:g.24086056G>A							p.C424C	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	1732	-			424						Silent	SNP	ENST00000341976.3	37	c.1272C>T	CCDS13812.1																																																																																				0.547	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		6	854	0	0	0	1	0	6	854					A	24086056	G	A	24086056	2	1	105	1	0	0	0	0	0	0	0	1	18156	1079	38	1		1	ZNF70	22	24086056	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	3989559	24086056	27218510	248	35738											
CRYBB1	1414	broad.mit.edu	37	chr22	27003917	27003917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgaccatgtgttccagCgagggtactcgcccttctcc	10	15	1	0			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:27003917C>T	ENST00000215939.2	-	4	498	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	123	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				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						TGTGTTCCAGCGAGGGTACTC	0.592																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(367-369)cGc>cAc		crystallin, beta B1							99	74	82					22																	27003917		2203	4300	6503	SO:0001583	missense	1414				visual perception		structural constituent of eye lens	g.chr22:27003917C>T		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.368G>A	22.37:g.27003917C>T	ENSP00000215939:p.Arg123His						p.R123H	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			4	498	-			123			Beta/gamma crystallin 'Greek key' 2.			Missense_Mutation	SNP	ENST00000215939.2	37	c.368G>A	CCDS13840.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582400	0.86748	.	.	ENSG00000100122	ENST00000215939	T	0.76060	-0.99	4.4	3.36	0.38483	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.105598	0.64402	D	0.000003	T	0.82157	0.4976	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83373	0.0008	10	0.66056	D	0.02	.	13.3936	0.60836	0.0:0.8408:0.1592:0.0	.	123	P53674	CRBB1_HUMAN	H	123	ENSP00000215939:R123H	ENSP00000215939:R123H	R	-	2	0	CRYBB1	25333917	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	2.906000	0.48735	1.041000	0.40125	0.585000	0.79938	CGC		0.592	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		52	215	0	0	0	1	0	52	215					T	27003917	C	T	27003917	3	4	105	1	0	0	0	0	1	0	0	0	3919	768	27	1	402	1	CRYBB1	22	27003917	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2917861	27003917	24300649	249	35739											
L3MBTL2	83746	broad.mit.edu	37	chr22	41625557	41625557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagggaaaagaatcccGcccactaagacgcgacccct	8	14	1	2	rs540563633		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:41625557G>A	ENST00000216237.5	+	16	2060	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	634					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGAATCCCGCCCACTAAGA	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17370	0.0		0.0	False		,,,				2504	0.0					ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1900-1902)ccG>ccA		l(3)mbt-like 2 (Drosophila)							47	49	48					22																	41625557		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41625557G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1902G>A	22.37:g.41625557G>A						CHADL_ENST00000216241.9_3'UTR	p.P634P	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			16	2060	+			634					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1902G>A	CCDS14011.1																																																																																				0.542	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		62	130	0	0	0	1	0	62	130					A	41625557	G	A	41625557	2	1	105	1	0	0	0	0	0	0	0	1	8623	1074	38	1		1	L3MBTL2	22	41625557	Silent	SNP	G	TCGA-OE-A75W-01A-12D-A32N-08	14621640	41625557	9679009	250	35740											
ALG12	79087	broad.mit.edu	37	chr22	50303671	50303671	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccctgaacacgatgatggCgaaggctgacagccagatga	12	11	0	5			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chr22:50303671C>T	ENST00000330817.6	-	5	808	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	179					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)		ACGATGATGGCGAAGGCTGAC	0.637																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(535-537)Gcc>Acc		ALG12, alpha-1,6-mannosyltransferase							51	48	49					22																	50303671		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50303671C>T	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.535G>A	22.37:g.50303671C>T	ENSP00000333813:p.Ala179Thr						p.A179T	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	5	808	-		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)	179					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.535G>A	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939391	0.52972	.	.	ENSG00000182858	ENST00000330817	T	0.64991	-0.13	4.44	3.42	0.39159	.	0.161366	0.53938	D	0.000044	T	0.65729	0.2719	L	0.58302	1.8	0.42474	D	0.992838	D	0.54772	0.968	P	0.51079	0.658	T	0.66559	-0.5893	10	0.35671	T	0.21	-16.6342	13.9771	0.64279	0.0:0.9236:0.0:0.0764	.	179	Q9BV10	ALG12_HUMAN	T	179	ENSP00000333813:A179T	ENSP00000333813:A179T	A	-	1	0	ALG12	48689675	0.995000	0.38212	0.008000	0.14137	0.008000	0.06430	3.331000	0.52075	1.166000	0.42689	-0.205000	0.12727	GCC		0.637	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		22	85	0	0	0	1	0	22	85					T	50303671	C	T	50303671	3	4	105	1	0	0	0	0	1	0	0	0	514	768	27	1	955	1	ALG12	22	50303671	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	8678114	50303671	1000895	251	35741											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					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						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	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.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		11	471						11	471	---	---	---	---	-	54011407	CTC	-	54011405	7	5	105	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-OE-A75W-01A-12D-A32N-08		54011405	101259155	252	35742											
FRMD7	90167	broad.mit.edu	37	chrX	131212553	131212553	+	Frame_Shift_Del	DEL	A	A	-													ctggggtggcttgtccacatAaaaaaagacctggggaggca							TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:131212553delA	ENST00000298542.4	-	12	1667	c.1492delT	c.(1492-1494)tatfs	p.Y498fs	FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs|FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	498					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)					TTGTCCACATAAAAAAAGACC	0.502																																						ENST00000298542.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1492-1494)atfs		FERM domain containing 7							114	109	110					X																	131212553		2203	4300	6503	SO:0001589	frameshift_variant	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212553delA	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.1492delT	X.37:g.131212553delA	ENSP00000298542:p.Tyr498fs					FRMD7_ENST00000464296.1_Frame_Shift_Del_p.Y483fs|FRMD7_ENST00000370879.1_Frame_Shift_Del_p.Y378fs	p.Y498fs	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN			12	1667	-	Acute lymphoblastic leukemia(192;0.000127)		498					C0LLJ3|Q5JX99	Frame_Shift_Del	DEL	ENST00000298542.4	37	c.1492delT	CCDS35397.1																																																																																				0.502	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		7	506						7	506	---	---	---	---	-	131212553	A	-	131212553	7	5	105	1	0	1	0	1	0	0	0	0	6082	362	13	0	656	0	FRMD7	23	131212553	Frame_Shift_Del	DEL	A	TCGA-OE-A75W-01A-12D-A32N-08	77201148	131212553	24058007	253	35743											
SPANXD	64648	broad.mit.edu	37	chrX	140785811	140785811	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttttttcggagcaggttgCgggtctgagtacccactcga	13	9	1	1	rs372644465		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:140785811C>T	ENST00000370515.3	-	2	438	c.105G>A	c.(103-105)ccG>ccA	p.P35P		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	35						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCAGGTTGCGGGTCTGAGT	0.478																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(103-105)ccG>ccA		SPANX family, member D		T		0,3830		0,0,0,1632,566	221	154	177		105		0	X		177	1,6682		0,0,1,2428,1826	no	coding-synonymous	SPANXD	NM_032417.2		0,0,1,4060,2392	TT,TC,T,CC,C		0.015,0.0,0.0095		35/98	140785811	1,10512	2198	4255	6453	SO:0001819	synonymous_variant	64648							g.chrX:140785811C>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 4"	300670, 300671	"SPANX family, member E"	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.105G>A	X.37:g.140785811C>T							p.P35P	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	438	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Silent	SNP	ENST00000370515.3	37	c.105G>A	CCDS14675.1																																																																																				0.478	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			7	1162	0	0	0	1	0	7	1162					T	140785811	C	T	140785811	2	4	105	1	0	0	0	0	0	0	0	1	15040	755	27	1		1	SPANXD	23	140785811	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	9573258	140785811	14484749	254	35744											
SPANXN2	494119	broad.mit.edu	37	chrX	142795255	142795255	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatccttcagatgagtcCaggtcttcgtcctcctgtga	10	11	2	4			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:142795255C>T	ENST00000370498.1	-	2	1176	c.423G>A	c.(421-423)ctG>ctA	p.L141L		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	141										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGAGTCCAGGTCTTCGT	0.517																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(421-423)ctG>ctA		SPANX family, member N2							169	158	162					X																	142795255		2203	4298	6501	SO:0001819	synonymous_variant	494119							g.chrX:142795255C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 7"	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.423G>A	X.37:g.142795255C>T							p.L141L	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	1176	-	Acute lymphoblastic leukemia(192;6.56e-05)		141					Q0ZNM2	Silent	SNP	ENST00000370498.1	37	c.423G>A	CCDS35419.1																																																																																				0.517	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		8	644	0	0	0	1	0	8	644					T	142795255	C	T	142795255	2	4	105	1	0	0	0	0	0	0	0	1	15043	581	21	2		2	SPANXN2	23	142795255	Silent	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	2009444	142795255	12475305	255	35745											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	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)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	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.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	259						9	259	---	---	---	---	-	149639327	CAG	-	149639325	7	5	105	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-OE-A75W-01A-12D-A32N-08	6844070	149639325	5631235	256	35746											
ARHGAP4	393	broad.mit.edu	37	chrX	153187163	153187163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagctccacctcagcgCggcgccgcatgaactctgcc	9	18	2	1			TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	g.chrX:153187163C>T	ENST00000350060.5	-	2	208	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.R56H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	56	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCTCAGCGCGGCGCCGCAT	0.697																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(166-168)cGc>cAc		Rho GTPase activating protein 4							9	10	10					X																	153187163		2187	4263	6450	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153187163C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"Rho GTPase activating proteins"	674	protein-coding gene	gene with protein product	"Rho-GAP hematopoietic protein C1"	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.167G>A	X.37:g.153187163C>T	ENSP00000203786:p.Arg56His					ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R33H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R56H|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R56H	p.R56H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			2	224	-	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)		56			FCH.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.167G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885319	0.51908	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.08	5.08	0.68730	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.41194	D	0.000933	T	0.64853	0.2636	L	0.60455	1.87	0.19775	N	0.99996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.58702	-0.7590	10	0.87932	D	0	.	7.4388	0.27171	0.0:0.8068:0.0:0.1932	.	56;56	Q86UY3;P98171	.;RHG04_HUMAN	H	56;56;56;56;33;33;33	ENSP00000377322:R56H;ENSP00000359045:R56H;ENSP00000203786:R56H;ENSP00000359033:R56H;ENSP00000444169:R33H;ENSP00000398259:R33H;ENSP00000413782:R33H	ENSP00000203786:R56H	R	-	2	0	ARHGAP4	152840357	0.630000	0.27155	0.141000	0.22245	0.297000	0.27493	2.726000	0.47302	2.262000	0.75019	0.436000	0.28706	CGC		0.697	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		29	23	0	0	0	1	0	29	23					T	153187163	C	T	153187163	3	4	105	1	0	0	0	0	1	0	0	0	885	768	27	1	2881	1	ARHGAP4	23	153187163	Missense_Mutation	SNP	C	TCGA-OE-A75W-01A-12D-A32N-08	3547838	153187163	2083397	257	35747											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-OE-A75W-01A-12D-A32N-08	TCGA-OE-A75W-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcfcc363-8ced-4979-967d-b42dac3fac8b	86bdd531-09be-40db-b941-b7a4273bdf4e	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																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(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	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	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						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	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)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			10	288						10	288	---	---	---	---	-	154157686	T	-	154157686	7	5	105	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-OE-A75W-01A-12D-A32N-08	970523	154157686	1112874	258	35748											
UBXN11	91544	broad.mit.edu	37	chr1	26608892	26608892	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggggccgggaccgggaccGggacagggaccaggactgaa	19	11	0	1	rs367932248|rs200210107		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:26608892G>A	ENST00000374222.1	-	16	1925	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000314675.7_Silent_p.P367P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374223.1_Silent_p.P244P			Q5T124	UBX11_HUMAN	UBX domain protein 11	487	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.		Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2}.			cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gaccgggaccgggacagggac	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		11883	0.0		0.001	False		,,,				2504	0.0					ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(1099-1101)ccC>ccT		UBX domain protein 11		G	,,	1,3703		0,1,1851	49	60	56		1101,1362,1461	0.6	0	1		56	4,8126		0,4,4061	no	coding-synonymous,coding-synonymous,coding-synonymous	UBXN11	NM_001077262.1,NM_145345.2,NM_183008.2	,,	0,5,5912	AA,AG,GG		0.0492,0.027,0.0423	,,	367/401,454/488,487/521	26608892	5,11829	1852	4065	5917	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26608892G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"UBX domain containing"	30600	protein-coding gene	gene with protein product	"socius"	609151	"UBX domain containing 5"	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1461C>T	1.37:g.26608892G>A						UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374217.2_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000374221.3_Silent_p.P487P	p.P367P	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			11	1180	-			487					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.1101C>T	CCDS41288.1																																																																																				0.716	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		6	453	0	0	0	1	0	6	453					A	26608892	G	A	26608892	2	1	106	1	0	0	0	0	0	0	0	1	16967	1103	39	1		1	UBXN11	1	26608892	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		26608892	222641729	1	35749											
EIF2C1	26523	broad.mit.edu	37	chr1	36354142	36354142	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caattactttgaggtggacaTccctaagatcgacgtgtacc	9	10	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:36354142T>A	ENST00000373204.4	+	2	353	c.140T>A	c.(139-141)aTc>aAc	p.I47N	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	47					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAGGTGGACATCCCTAAGATC	0.562																																						ENST00000373204.4																			0											c.(139-141)aTc>aAc		argonaute RISC catalytic component 1							106	99	102					1																	36354142		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36354142T>A	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.140T>A	1.37:g.36354142T>A	ENSP00000362300:p.Ile47Asn					AGO1_ENST00000373206.1_5'UTR	p.I47N	NM_012199.2	NP_036331.1					2	353	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.140T>A	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.951669	0.92660	.	.	ENSG00000092847	ENST00000373204	T	0.09911	2.93	5.6	5.6	0.85130	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.85630	2.765	0.80722	D	1	P	0.49090	0.919	P	0.60345	0.873	T	0.20940	-1.0260	10	0.87932	D	0	-11.7092	16.0773	0.80976	0.0:0.0:0.0:1.0	.	47	Q9UL18	AGO1_HUMAN	N	47	ENSP00000362300:I47N	ENSP00000362300:I47N	I	+	2	0	EIF2C1	36126729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.254000	0.74563	0.482000	0.46254	ATC		0.562	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			9	495	0	0	0	1	0	9	495					A	36354142	T	A	36354142	3	1	106	1	0	0	0	0	1	0	0	0	5021	1435	50	5	146	5	EIF2C1	1	36354142	Missense_Mutation	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	9745250	36354142	212896479	2	35750											
ADPRHL2	54936	broad.mit.edu	37	chr1	36557376	36557376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggcaatggaggtgccatgCgggtggctggcatctccctg	16	10	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:36557376C>T	ENST00000373178.4	+	3	496	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	156						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGGTGCCATGCGGGTGGCTGG	0.582																																						ENST00000373178.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(466-468)Cgg>Tgg		ADP-ribosylhydrolase like 2							62	61	61					1																	36557376		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36557376C>T	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.466C>T	1.37:g.36557376C>T	ENSP00000362273:p.Arg156Trp						p.R156W	NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN			3	496	+		Myeloproliferative disorder(586;0.0393)	156					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.466C>T	CCDS402.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766089	0.69878	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.59906	0.23	5.35	2.31	0.28768	.	0.000000	0.85682	D	0.000000	D	0.82444	0.5038	H	0.96269	3.795	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.88017	0.2766	10	0.87932	D	0	-16.3839	14.9511	0.71074	0.6175:0.3825:0.0:0.0	.	156	Q9NX46	ARHL2_HUMAN	W	156;76;2	ENSP00000362273:R156W	ENSP00000362273:R156W	R	+	1	2	ADPRHL2	36329963	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.643000	0.61390	0.608000	0.30000	-0.261000	0.10672	CGG		0.582	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		5	454	0	0	0	1	0	5	454					T	36557376	C	T	36557376	3	4	106	1	0	0	0	0	1	0	0	0	333	759	27	1	476	1	ADPRHL2	1	36557376	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	203234	36557376	212693245	3	35751											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		10	342						10	342	---	---	---	---	-	46184898	AC	-	46184897	7	5	106	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-Q3-A5QY-01A-12D-A32N-08	9627521	46184897	203065724	4	35752											
PTGFR	5737	broad.mit.edu	37	chr1	79002208	79002208	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tagatccttgggtatatattCttctacgaaaggctgtcctt	8	8	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:79002208C>A	ENST00000370757.3	+	3	1153	c.916C>A	c.(916-918)Ctt>Att	p.L306I	PTGFR_ENST00000370758.1_Missense_Mutation_p.L306I|PTGFR_ENST00000370756.3_3'UTR	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	306					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GGTATATATTCTTCTACGAAA	0.388																																						ENST00000370757.3																			0				breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33						c.(916-918)Ctt>Att		prostaglandin F receptor (FP)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						131	134	133					1																	79002208		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002208C>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.916C>A	1.37:g.79002208C>A	ENSP00000359793:p.Leu306Ile					PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.L306I	p.L306I	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1153	+			306					A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.916C>A	CCDS686.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743931	0.89663	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	T;T	0.44881	0.91;0.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.59473	0.2196	M	0.65498	2.005	0.52501	D	0.999954	D	0.76494	0.999	D	0.78314	0.991	T	0.57551	-0.7792	10	0.54805	T	0.06	-21.887	20.1454	0.98074	0.0:1.0:0.0:0.0	.	306	P43088	PF2R_HUMAN	I	306	ENSP00000359794:L306I;ENSP00000359793:L306I	ENSP00000359793:L306I	L	+	1	0	PTGFR	78774796	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.903000	0.69877	2.840000	0.97914	0.655000	0.94253	CTT		0.388	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		7	546	1	0	0.0293803	1	0.0299799	7	546					A	79002208	C	A	79002208	3	1	106	1	0	0	0	0	1	0	0	0	12797	913	32	3	997	3	PTGFR	1	79002208	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	32817311	79002208	170248413	5	35753											
TCHH	7062	broad.mit.edu	37	chr1	152082631	152082631	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagctcgtcttttttgCggtactgcctctcccactcc	8	16	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:152082631C>T	ENST00000368804.1	-	2	3061	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1021	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)			GTCTTTTTTGCGGTActgcct	0.557																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3061-3063)cGc>cAc		trichohyalin							99	101	101					1																	152082631		1983	4145	6128	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082631C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3062G>A	1.37:g.152082631C>T	ENSP00000357794:p.Arg1021His						p.R1021H	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3061	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1021			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3062G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	7.212	0.595657	0.13875	.	.	ENSG00000159450	ENST00000368804	T	0.14144	2.53	2.67	-1.04	0.10068	.	.	.	.	.	T	0.01489	0.0048	N	0.19112	0.55	0.09310	N	1	P	0.39624	0.681	B	0.24541	0.054	T	0.43032	-0.9416	9	0.41790	T	0.15	.	2.5479	0.04742	0.3961:0.3433:0.0:0.2606	.	1021	Q07283	TRHY_HUMAN	H	1021	ENSP00000357794:R1021H	ENSP00000357794:R1021H	R	-	2	0	TCHH	150349255	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.086000	0.14935	-0.613000	0.05694	0.462000	0.41574	CGC		0.557	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	717	0	0	0	1	0	6	717					T	152082631	C	T	152082631	3	4	106	1	0	0	0	0	1	0	0	0	15752	768	27	1	2773	1	TCHH	1	152082631	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	73080423	152082631	97167990	6	35754											
F5	2153	broad.mit.edu	37	chr1	169510405	169510405	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaaaggtttgtctgaCtgagttctggagagagagtc	16	5	2	4			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:169510405C>A	ENST00000367797.3	-	13	4124	c.3923G>T	c.(3922-3924)aGt>aTt	p.S1308I	F5_ENST00000367796.3_Missense_Mutation_p.S1313I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1308	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTTTGTCTGACTGAGTTCTGG	0.512																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3937-3939)aGt>aTt		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						272	296	288					1																	169510405		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510405C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3923G>T	1.37:g.169510405C>A	ENSP00000356771:p.Ser1308Ile					F5_ENST00000367797.3_Missense_Mutation_p.S1308I	p.S1313I			P12259	FA5_HUMAN			13	4139	-	all_hematologic(923;0.208)		1308			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3938G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864337	0.32977	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.35789	1.29;1.29	3.21	-2.1	0.07210	.	1.723450	0.02512	N	0.091650	T	0.13372	0.0324	L	0.55990	1.75	0.22199	N	0.999294	P	0.45283	0.855	B	0.38327	0.271	T	0.14008	-1.0488	9	0.40728	T	0.16	.	5.0898	0.14702	0.0:0.4556:0.315:0.2294	.	1308	P12259	FA5_HUMAN	I	1308;1313	ENSP00000356771:S1308I;ENSP00000356770:S1313I	ENSP00000356770:S1313I	S	-	2	0	F5	167777029	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.937000	0.00685	-0.282000	0.09128	0.542000	0.68232	AGT		0.512	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	1722	1	0	0.0381472	1	0.0387282	8	1722					A	169510405	C	A	169510405	3	1	106	1	0	0	0	0	1	0	0	0	5366	565	20	3	2803	3	F5	1	169510405	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	17427774	169510405	79740216	7	35755											
PRG4	10216	broad.mit.edu	37	chr1	186276216	186276216	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacTcccaaggagcctacacccac	7	19	0	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:186276216T>C	ENST00000445192.2	+	7	1410	c.1365T>C	c.(1363-1365)acT>acC	p.T455T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T412T|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	455	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						CACCCACCACTCCCAAGGAGC	0.652																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1363-1365)acT>acC		proteoglycan 4							81	91	87					1																	186276216		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276216T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1365T>C	1.37:g.186276216T>C						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T362T|PRG4_ENST00000367483.4_Silent_p.T414T|PRG4_ENST00000367486.3_Silent_p.T412T	p.T455T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1410	+			455			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1365T>C	CCDS1369.1																																																																																				0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	584	0	0	0	1	0	12	584					C	186276216	T	C	186276216	2	2	106	1	0	0	0	0	0	0	0	1	12528	1538	54	4		4	PRG4	1	186276216	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	16765811	186276216	62974405	8	35756											
KCNH1	3756	broad.mit.edu	37	chr1	211263994	211263994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactttatcctgttcgtttcGaattggagcaattttcacaa	6	9	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:211263994G>A	ENST00000271751.4	-	4	376	c.349C>T	c.(349-351)Cga>Tga	p.R117*	KCNH1_ENST00000367007.4_Nonsense_Mutation_p.R117*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	117	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				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)		TGTTCGTTTCGAATTGGAGCA	0.378																																						ENST00000367007.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(349-351)Cga>Tga		potassium voltage-gated channel, subfamily H (eag-related), member 1							96	94	95					1																	211263994		2203	4300	6503	SO:0001587	stop_gained	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211263994G>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.349C>T	1.37:g.211263994G>A	ENSP00000271751:p.Arg117*					KCNH1_ENST00000271751.4_Nonsense_Mutation_p.R117*	p.R117*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	4	518	-			117			PAC.		B1AQ26|O76035|Q14CL3	Nonsense_Mutation	SNP	ENST00000271751.4	37	c.349C>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	38	7.239776	0.98157	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	5.22	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	11.8706	0.52519	0.0:0.0:0.6718:0.3282	.	.	.	.	X	117	.	ENSP00000271751:R117X	R	-	1	2	KCNH1	209330617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.394000	0.44450	1.141000	0.42275	0.655000	0.94253	CGA		0.378	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		8	303	0	0	0	1	0	8	303					A	211263994	G	A	211263994	4	1	106	1	0	0	0	0	0	1	0	0	8061	1066	37	1	2652	1	KCNH1	1	211263994	Nonsense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	24987778	211263994	37986627	9	35757											
SPATA17	128153	broad.mit.edu	37	chr1	217975123	217975123	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaatgcatttatcaagCaagtatggtcctatttctta	5	9	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:217975123C>A	ENST00000366933.4	+	9	991	c.936C>A	c.(934-936)agC>agA	p.S312R	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	312						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)		ATTTATCAAGCAAGTATGGTC	0.294																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(934-936)agC>agA		spermatogenesis associated 17							55	56	56					1																	217975123		2200	4291	6491	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217975123C>A	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.936C>A	1.37:g.217975123C>A	ENSP00000355900:p.Ser312Arg					SPATA17_ENST00000471021.1_3'UTR	p.S312R	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	9	991	+			312					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.936C>A	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819364	0.71028	.	.	ENSG00000162814	ENST00000366933	T	0.49139	0.79	4.9	2.94	0.34122	.	0.581965	0.16566	N	0.208837	T	0.50599	0.1625	M	0.71581	2.175	0.27832	N	0.941417	P	0.50272	0.933	P	0.48030	0.564	T	0.49661	-0.8916	10	0.72032	D	0.01	-12.2977	7.412	0.27023	0.1261:0.6661:0.0:0.2078	.	312	Q96L03	SPT17_HUMAN	R	312	ENSP00000355900:S312R	ENSP00000355900:S312R	S	+	3	2	SPATA17	216041746	0.996000	0.38824	0.990000	0.47175	0.453000	0.32348	0.228000	0.17814	1.150000	0.42419	0.563000	0.77884	AGC		0.294	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		5	175	1	0	0.000602214	1	0.00063391	5	175					A	217975123	C	A	217975123	3	1	106	1	0	0	0	0	1	0	0	0	15054	709	25	3	970	3	SPATA17	1	217975123	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	6711129	217975123	31275498	10	35758											
EGLN1	54583	broad.mit.edu	37	chr1	231557097	231557097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtctgcccgttgggccGcaggccgccgccggggctca	15	17	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:231557097G>A	ENST00000366641.3	-	1	3693	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	EGLN1_ENST00000476717.1_5'Flank	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)				CCGTTGGGCCGCAGGCCGCCG	0.687																																						ENST00000366641.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(538-540)Cgg>Tgg		egl-9 family hypoxia-inducible factor 1	Vitamin C(DB00126)						9	9	9					1																	231557097		2106	4134	6240	SO:0001583	missense	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231557097G>A	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.538C>T	1.37:g.231557097G>A	ENSP00000355601:p.Arg180Trp						p.R180W	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN			1	3693	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	180						Missense_Mutation	SNP	ENST00000366641.3	37	c.538C>T	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352116	0.41700	.	.	ENSG00000135766	ENST00000366641	D	0.87256	-2.23	5.23	0.483	0.16820	.	0.411550	0.22376	N	0.060876	T	0.75968	0.3922	L	0.43923	1.385	0.25462	N	0.98791	B	0.32800	0.385	B	0.16289	0.015	T	0.67237	-0.5721	10	0.87932	D	0	-11.8165	5.589	0.17291	0.0734:0.1143:0.5506:0.2617	.	180	Q9GZT9	EGLN1_HUMAN	W	180	ENSP00000355601:R180W	ENSP00000355601:R180W	R	-	1	2	EGLN1	229623720	1.000000	0.71417	0.056000	0.19401	0.369000	0.29798	0.806000	0.27126	0.175000	0.19841	0.557000	0.71058	CGG		0.687	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		4	127	0	0	0	1	0	4	127					A	231557097	G	A	231557097	3	1	106	1	0	0	0	0	1	0	0	0	4984	1086	38	1	762	1	EGLN1	1	231557097	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	13581974	231557097	17693524	11	35759											
FMN2	56776	broad.mit.edu	37	chr1	240371436	240371436	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacccggagtgggcataccTcctccgccccctctacccgg	9	20	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:240371436T>C	ENST00000319653.9	+	5	3554	c.3324T>C	c.(3322-3324)ccT>ccC	p.P1108P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1108	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.P1251P(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)			TGGGCATACCTCCTCCGCCCC	0.731																																						ENST00000319653.9																			1	Substitution - coding silent(1)	p.P1251P(1)	lung(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						c.(3322-3324)ccT>ccC		formin 2							8	11	10					1																	240371436		2057	4147	6204	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371436T>C	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.3324T>C	1.37:g.240371436T>C							p.P1108P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3554	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1108			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3324T>C	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		10	269	0	0	0	1	0	10	269					C	240371436	T	C	240371436	2	2	106	1	0	0	0	0	0	0	0	1	5975	1538	54	4		4	FMN2	1	240371436	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	8814339	240371436	8879185	12	35760											
FH	2271	broad.mit.edu	37	chr1	241663871	241663871	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	catcccccagcagcctggctGagtgtaacacatttttaatc	7	13	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr1:241663871G>T	ENST00000366560.3	-	9	1294	c.1256C>A	c.(1255-1257)tCa>tAa	p.S419*		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	419					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CAGCCTGGCTGAGTGTAACAC	0.438			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1255-1257)tCa>tAa		fumarate hydratase							81	78	79					1																	241663871		2203	4300	6503	SO:0001587	stop_gained	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241663871G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1256C>A	1.37:g.241663871G>T	ENSP00000355518:p.Ser419*						p.S419*	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	9	1294	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	419					B1ANK7	Nonsense_Mutation	SNP	ENST00000366560.3	37	c.1256C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	38	6.957369	0.97964	.	.	ENSG00000091483	ENST00000366560	.	.	.	5.71	5.71	0.89125	.	0.129744	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.2891	17.3485	0.87316	0.0:0.0:1.0:0.0	.	.	.	.	X	419	.	ENSP00000355518:S419X	S	-	2	0	FH	239730494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.697000	0.92050	0.655000	0.94253	TCA		0.438	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		6	452	1	0	1	1	1	6	452					T	241663871	G	T	241663871	4	4	106	1	0	0	0	0	0	1	0	0	5900	1294	45	3	284	3	FH	1	241663871	Nonsense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1292435	241663871	7586750	13	35761											
CGREF1	10669	broad.mit.edu	37	chr2	27324340	27324340	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcccctctgggcccGggggcatctccttcagcctc	10	19	3	0	rs11893427	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:27324340G>A	ENST00000260595.5	-	6	1028				CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Silent_p.P375P|CGREF1_ENST00000405600.1_Silent_p.P253P|CGREF1_ENST00000312734.4_Silent_p.P253P|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000402394.1_Silent_p.P253P			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTGGGCCCGGGGGCATCTC	0.706																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(757-759)ccC>ccT		cell growth regulator with EF-hand domain 1							39	47	44					2																	27324340		1674	3351	5025	SO:0001627	intron_variant	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324340G>A	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.735+23C>T	2.37:g.27324340G>A						CGREF1_ENST00000312734.4_Silent_p.P253P|CGREF1_ENST00000260595.5_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Silent_p.P375P|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_Silent_p.P253P	p.P253P	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1027	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		253					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Silent	SNP	ENST00000260595.5	37	c.759C>T																																																																																					0.706	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		6	790	0	0	0	1	0	6	790					A	27324340	G	A	27324340	1	1	106	0	1	0	0	0	0	0	0	0	3314	1103	39	1		1	CGREF1	2	27324340	Intron	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		27324340	215875033	14	35762											
NRXN1	9378	broad.mit.edu	37	chr2	51254959	51254959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccccccgacgaaaaggccGctgaacaccgtcatgtccct	9	17	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:51254959G>A	ENST00000406316.2	-	2	1929	c.453C>T	c.(451-453)agC>agT	p.S151S	NRXN1_ENST00000401669.2_Silent_p.S151S|NRXN1_ENST00000406859.3_Silent_p.S151S|NRXN1_ENST00000405472.3_Silent_p.S151S|NRXN1_ENST00000404971.1_Silent_p.S151S|NRXN1_ENST00000402717.3_Silent_p.S151S|NRXN1_ENST00000405581.1_Silent_p.S151S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	151	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGAAAAGGCCGCTGAACACCG	0.672																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(451-453)agC>agT		neurexin 1							26	32	30					2																	51254959		2130	4244	6374	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:51254959G>A	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.453C>T	2.37:g.51254959G>A						NRXN1_ENST00000406316.2_Silent_p.S151S|NRXN1_ENST00000405581.1_Silent_p.S151S|NRXN1_ENST00000401669.2_Silent_p.S151S|NRXN1_ENST00000406859.3_Silent_p.S151S|NRXN1_ENST00000402717.3_Silent_p.S151S|NRXN1_ENST00000405472.3_Silent_p.S151S	p.S151S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1792	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	151			Laminin G-like 1.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.453C>T	CCDS54360.1																																																																																				0.672	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	136	0	0	0	1	0	4	136					A	51254959	G	A	51254959	2	1	106	1	0	0	0	0	0	0	0	1	10707	1078	38	1		1	NRXN1	2	51254959	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	23930619	51254959	191944414	15	35763											
RNF181	51255	broad.mit.edu	37	chr2	85824016	85824016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgagatgccttgccatcacCttttccattccagctgcatt	6	13	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:85824016C>T	ENST00000306368.4	+	3	319	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	RNF181_ENST00000441634.1_Missense_Mutation_p.L97F	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	97					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						TTGCCATCACCTTTTCCATTC	0.522																																						ENST00000441634.1																			0				lung(1)|stomach(1)	2						c.(289-291)Ctt>Ttt		ring finger protein 181							201	188	192					2																	85824016		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85824016C>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"RING-type (C3HC4) zinc fingers"	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.289C>T	2.37:g.85824016C>T	ENSP00000306906:p.Leu97Phe					RNF181_ENST00000306368.4_Missense_Mutation_p.L97F	p.L97F			Q9P0P0	RN181_HUMAN			3	328	+			97					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.289C>T	CCDS1981.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466170	0.43839	.	.	ENSG00000168894	ENST00000441634;ENST00000306368	T;T	0.44482	0.92;0.92	5.75	4.88	0.63580	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.059226	0.64402	N	0.000002	T	0.23965	0.0580	N	0.11106	0.095	0.54753	D	0.999988	B	0.16603	0.018	B	0.21917	0.037	T	0.06716	-1.0811	10	0.14252	T	0.57	.	12.4863	0.55874	0.0:0.9193:0.0:0.0807	.	97	Q9P0P0	RN181_HUMAN	F	97	ENSP00000412025:L97F;ENSP00000306906:L97F	ENSP00000306906:L97F	L	+	1	0	RNF181	85677527	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	1.548000	0.36201	1.432000	0.47375	0.655000	0.94253	CTT		0.522	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		11	684	0	0	0	1	0	11	684					T	85824016	C	T	85824016	3	4	106	1	0	0	0	0	1	0	0	0	13515	681	24	2	299	2	RNF181	2	85824016	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	34569057	85824016	157375357	16	35764											
R3HDM1	23518	broad.mit.edu	37	chr2	136409467	136409467	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacatcctcctccaccGccaccaccaccacctcctcc	1	27	0	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:136409467G>A	ENST00000264160.4	+	17	2158	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P	R3HDM1_ENST00000329971.3_Silent_p.P467P|R3HDM1_ENST00000409606.1_Silent_p.P597P|R3HDM1_ENST00000410054.1_Silent_p.P541P|R3HDM1_ENST00000409478.1_Silent_p.P468P	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	596	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ctcctccaccgccaccaccac	0.602																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1786-1788)ccG>ccA		R3H domain containing 1							85	75	78					2																	136409467		2203	4300	6503	SO:0001819	synonymous_variant	23518						nucleic acid binding	g.chr2:136409467G>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1788G>A	2.37:g.136409467G>A						R3HDM1_ENST00000409478.1_Silent_p.P468P|R3HDM1_ENST00000329971.3_Silent_p.P467P|R3HDM1_ENST00000409606.1_Silent_p.P597P|R3HDM1_ENST00000410054.1_Silent_p.P541P	p.P596P	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2158	+			596			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Silent	SNP	ENST00000264160.4	37	c.1788G>A	CCDS2177.1	.	.	.	.	.	.	.	.	.	.	G	0.429	-0.904413	0.02453	.	.	ENSG00000048991	ENST00000429703;ENST00000425804	.	.	.	3.86	-7.72	0.01250	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.26376	N	0.976812	.	.	.	.	.	.	T	0.12319	-1.0552	4	.	.	.	-6.043	5.3034	0.15791	0.2135:0.0:0.3696:0.4169	.	.	.	.	T	320;180	.	.	A	+	1	0	R3HDM1	136125937	0.792000	0.28813	0.001000	0.08648	0.335000	0.28730	0.071000	0.14594	-3.286000	0.00196	-0.254000	0.11334	GCC		0.602	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		7	423	0	0	0	1	0	7	423					A	136409467	G	A	136409467	2	1	106	1	0	0	0	0	0	0	0	1	12937	1074	38	1		1	R3HDM1	2	136409467	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	50585451	136409467	106789906	17	35765											
FIGN	55137	broad.mit.edu	37	chr2	164467288	164467288	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaaatgctgttgtcggGcattctgtacataggactct	11	7	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:164467288G>A	ENST00000333129.3	-	3	1368	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	352					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						CTGTTGTCGGGCATTCTGTAC	0.448																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1054-1056)Ccc>Tcc		fidgetin							130	125	127					2																	164467288		1937	4133	6070	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467288G>A	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.1054C>T	2.37:g.164467288G>A	ENSP00000333836:p.Pro352Ser					FIGN_ENST00000409634.1_Intron	p.P352S	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1368	-			352					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1054C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	3.349	-0.132926	0.06711	.	.	ENSG00000182263	ENST00000333129	D	0.91843	-2.92	5.94	4.15	0.48705	.	0.456711	0.22595	N	0.058032	D	0.85375	0.5682	L	0.29908	0.895	0.54753	D	0.999989	B	0.17465	0.022	B	0.19666	0.026	T	0.76575	-0.2909	10	0.10636	T	0.68	-4.4398	12.098	0.53765	0.065:0.1212:0.8138:0.0	.	352	Q5HY92	FIGN_HUMAN	S	352	ENSP00000333836:P352S	ENSP00000333836:P352S	P	-	1	0	FIGN	164175534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.220000	0.51207	0.852000	0.35287	0.563000	0.77884	CCC		0.448	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		6	527	0	0	0	1	0	6	527					A	164467288	G	A	164467288	3	1	106	1	0	0	0	0	1	0	0	0	5916	1203	42	2	1229	2	FIGN	2	164467288	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	28057821	164467288	78732085	18	35766											
UBR3	130507	broad.mit.edu	37	chr2	170814986	170814986	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagcagaaattgcttgCggagtttgcttcacgacaga	13	8	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:170814986C>T	ENST00000272793.5	+	24	3634	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	UBR3_ENST00000418381.1_Missense_Mutation_p.A1195V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1195					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						AAATTGCTTGCGGAGTTTGCT	0.348																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3583-3585)gCg>gTg		ubiquitin protein ligase E3 component n-recognin 3 (putative)							103	111	108					2																	170814986		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170814986C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3584C>T	2.37:g.170814986C>T	ENSP00000272793:p.Ala1195Val					UBR3_ENST00000418381.1_Missense_Mutation_p.A1195V	p.A1195V			Q6ZT12	UBR3_HUMAN			24	3634	+			1195					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.3584C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.812118|5.812118	0.96975|0.96975	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|.	0.57595|.	0.39;0.39|.	6.15|6.15	6.15|6.15	0.99193|0.99193	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81842|0.81842	0.4908|0.4908	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.986|.	T|T	0.79642|0.79642	-0.1718|-0.1718	10|5	0.59425|.	D|.	0.04|.	.|.	20.8387|20.8387	0.99724|0.99724	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1195;1195|.	Q6ZT12;E7EVK3|.	UBR3_HUMAN;.|.	V|W	1195|253	ENSP00000272793:A1195V;ENSP00000396068:A1195V|.	ENSP00000272793:A1195V|.	A|R	+|+	2|1	0|2	UBR3|UBR3	170523232|170523232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	7.786000|7.786000	0.85741|0.85741	2.932000|2.932000	0.99384|0.99384	0.643000|0.643000	0.83706|0.83706	GCG|CGG		0.348	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		17	507	0	0	0	1	0	17	507					T	170814986	C	T	170814986	3	4	106	1	0	0	0	0	1	0	0	0	16957	768	27	1	3678	1	UBR3	2	170814986	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	6347698	170814986	72384387	19	35767											
TTN	7273	broad.mit.edu	37	chr2	179476531	179476531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgggttcacttgggtgGccaactccagcttcattttc	10	11	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:179476531G>A	ENST00000591111.1	-	218	45806	c.45582C>T	c.(45580-45582)ggC>ggT	p.G15194G	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.G7962G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.G7770G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G7895G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.G14267G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.G16835G			Q8WZ42	TITIN_HUMAN	titin	15194	Fibronectin type-III 10. {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)			CACTTGGGTGGCCAACTCCAG	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50503-50505)ggC>ggT		titin							139	134	136					2																	179476531		1948	4148	6096	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476531G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45582C>T	2.37:g.179476531G>A						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Silent_p.G15194G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.G14267G|TTN_ENST00000359218.5_Silent_p.G7895G|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.G7962G|TTN_ENST00000460472.2_Silent_p.G7770G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.G16835G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		268	50729	-			15194					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.50505C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	646	0	0	0	1	0	6	646					A	179476531	G	A	179476531	2	1	106	1	0	0	0	0	0	0	0	1	16789	1190	42	2		2	TTN	2	179476531	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	8661545	179476531	63722842	20	35768											
TTN	7273	broad.mit.edu	37	chr2	179640946	179640946	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaaccttttgcttttgCggatgagctgtccattgagg	11	9	1	3	rs374605213		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:179640946C>T	ENST00000591111.1	-	28	5869	c.5645G>A	c.(5644-5646)cGc>cAc	p.R1882H	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1836H|TTN_ENST00000460472.2_Missense_Mutation_p.R1836H|TTN_ENST00000359218.5_Missense_Mutation_p.R1836H|TTN_ENST00000342992.6_Missense_Mutation_p.R1882H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1882H|TTN_ENST00000589042.1_Missense_Mutation_p.R1882H			Q8WZ42	TITIN_HUMAN	titin	12718	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTTTTGCGGATGAGCTG	0.502																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5644-5646)cGc>cAc		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	272	246	255		5507,5645,5645,5507,5507	5.1	1	2		255	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1836/26927,1882/33424,1882/5605,1836/27052,1836/27119	179640946	2,13004	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640946C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5645G>A	2.37:g.179640946C>T	ENSP00000465570:p.Arg1882His					TTN_ENST00000591111.1_Missense_Mutation_p.R1882H|TTN_ENST00000342992.6_Missense_Mutation_p.R1882H|TTN_ENST00000359218.5_Missense_Mutation_p.R1836H|TTN_ENST00000342175.6_Missense_Mutation_p.R1836H|TTN_ENST00000360870.5_Missense_Mutation_p.R1882H|TTN_ENST00000460472.2_Missense_Mutation_p.R1836H	p.R1882H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	5869	-			1597			Ig-like 9.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.5645G>A		.	.	.	.	.	.	.	.	.	.	C	12.00	1.807927	0.31961	0.0	2.33E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.09	5.09	0.68999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68659	0.3025	L	0.39692	1.235	0.35803	D	0.823318	P;P;P;P;D	0.67145	0.641;0.641;0.641;0.783;0.996	B;B;B;B;P	0.50537	0.165;0.165;0.165;0.391;0.643	T	0.78265	-0.2271	9	0.87932	D	0	.	18.4992	0.90875	0.0:1.0:0.0:0.0	.	1836;1836;1836;1882;1882	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1882;1836;1836;1836;1836;1882	ENSP00000343764:R1882H;ENSP00000434586:R1836H;ENSP00000340554:R1836H;ENSP00000352154:R1836H;ENSP00000354117:R1882H	ENSP00000340554:R1836H	R	-	2	0	TTN	179349191	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.052000	0.71080	2.382000	0.81193	0.604000	0.83254	CGC		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	1013	0	0	0	1	0	8	1013					T	179640946	C	T	179640946	3	4	106	1	0	0	0	0	1	0	0	0	16789	768	27	1	105683	1	TTN	2	179640946	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	164415	179640946	63558427	21	35769											
RNF25	64320	broad.mit.edu	37	chr2	219529962	219529962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacactggacactgcacaccGactgccttctaaaaaagaga	7	13	1	1	rs200142823		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:219529962G>A	ENST00000295704.2	-	8	1022	c.582C>T	c.(580-582)gtC>gtT	p.V194V		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	194					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)		ACTGCACACCGACTGCCTTCT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		17867	0.0		0.001	False		,,,				2504	0.0					ENST00000295704.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(580-582)gtC>gtT		ring finger protein 25							85	79	81					2																	219529962		2203	4300	6503	SO:0001819	synonymous_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529962G>A		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.582C>T	2.37:g.219529962G>A							p.V194V	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1022	-		Renal(207;0.0474)	194					A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	c.582C>T	CCDS2420.1																																																																																				0.532	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		7	296	0	0	0	1	0	7	296					A	219529962	G	A	219529962	2	1	106	1	0	0	0	0	0	0	0	1	13535	1045	37	1		1	RNF25	2	219529962	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	39889016	219529962	23669411	22	35770											
SPEG	10290	broad.mit.edu	37	chr2	220341686	220341686	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgagggaaaaccactgccGgacatcatgtggtacaaggt	13	9	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:220341686G>A	ENST00000312358.7	+	19	4674	c.4542G>A	c.(4540-4542)ccG>ccA	p.P1514P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1514	Ig-like 8.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCACTGCCGGACATCATGT	0.632																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(4540-4542)ccG>ccA		SPEG complex locus							61	67	65					2																	220341686		2084	4207	6291	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220341686G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4542G>A	2.37:g.220341686G>A						SPEG_ENST00000485813.1_3'UTR	p.P1514P	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	19	4674	+		Renal(207;0.0183)	1514			Ig-like 8.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.4542G>A	CCDS42824.1																																																																																				0.632	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		5	369	0	0	0	1	0	5	369					A	220341686	G	A	220341686	2	1	106	1	0	0	0	0	0	0	0	1	15088	1103	39	1		1	SPEG	2	220341686	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	811724	220341686	22857687	23	35771											
IRS1	3667	broad.mit.edu	37	chr2	227662683	227662683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactcatcactcatggcccGcatggcctccaggatggtct	10	14	4	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:227662683G>A	ENST00000305123.5	-	1	1792	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	258	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				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)		CTCATGGCCCGCATGGCCTCC	0.637											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(772-774)Cgg>Tgg		insulin receptor substrate 1							74	80	78					2																	227662683		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662683G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.772C>T	2.37:g.227662683G>A	ENSP00000304895:p.Arg258Trp		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.R258W	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1792	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	258			IRS-type PTB.			Missense_Mutation	SNP	ENST00000305123.5	37	c.772C>T	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310295	0.60414	.	.	ENSG00000169047	ENST00000305123	T	0.47177	0.85	5.79	2.9	0.33743	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.117936	0.39146	N	0.001442	T	0.55800	0.1943	L	0.34521	1.04	0.47214	D	0.999354	D	0.89917	1.0	D	0.66716	0.946	T	0.57785	-0.7751	10	0.87932	D	0	-30.8633	14.6021	0.68447	0.0:0.0:0.4974:0.5026	.	258	P35568	IRS1_HUMAN	W	258	ENSP00000304895:R258W	ENSP00000304895:R258W	R	-	1	2	IRS1	227370927	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.388000	0.44398	0.306000	0.22856	0.561000	0.74099	CGG		0.637	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		5	442	0	0	0	1	0	5	442					A	227662683	G	A	227662683	3	1	106	1	0	0	0	0	1	0	0	0	7870	1086	38	1	2960	1	IRS1	2	227662683	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	7320997	227662683	15536690	24	35772											
COL4A4	1286	broad.mit.edu	37	chr2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-													gggggtcctgggggacctttCtttccacgaggacctggagg					rs2229812	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aagfs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	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)		GGGGACCTTTCTTTCCACGAG	0.522																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3682-3684)aafs		collagen, type IV, alpha 4							75	77	76					2																	227896886		1844	4079	5923	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896886delC		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.3684delG	2.37:g.227896886delC	ENSP00000379866:p.Lys1229fs					COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3891	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1229			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3684delG	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		8	552						8	552	---	---	---	---	-	227896886	C	-	227896886	7	5	106	1	0	1	0	1	0	0	0	0	3702	912	32	0	1428	0	COL4A4	2	227896886	Frame_Shift_Del	DEL	C	TCGA-Q3-A5QY-01A-12D-A32N-08	234203	227896886	15302487	25	35773											
COL6A3	1293	broad.mit.edu	37	chr2	238305387	238305387	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcttgctgctgctggGcatgagttgtaggaaagcct	13	9	0	1	rs398124134		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr2:238305387G>A	ENST00000295550.4	-	2	526	c.74C>T	c.(73-75)gCc>gTc	p.A25V	COL6A3_ENST00000409809.1_Missense_Mutation_p.A25V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A25V|COL6A3_ENST00000392004.3_Missense_Mutation_p.A25V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A25V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A25V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A25V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A25V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	25					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)		CTGCTGCTGGGCATGAGTTGT	0.423																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(73-75)gCc>gTc		collagen, type VI, alpha 3							121	124	123					2																	238305387		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238305387G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.74C>T	2.37:g.238305387G>A	ENSP00000295550:p.Ala25Val					COL6A3_ENST00000392004.3_Missense_Mutation_p.A25V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A25V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A25V|COL6A3_ENST00000392003.2_Missense_Mutation_p.A25V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A25V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A25V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A25V	p.A25V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	2	526	-		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)	25					A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.74C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339245	0.24339	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;D;T;T;T;T;T	0.88509	-1.09;-1.09;-1.08;-2.39;-1.08;-1.09;-1.08;-0.04;-1.09	5.46	3.62	0.41486	.	0.124395	0.35805	N	0.002975	D	0.92446	0.7602	M	0.61703	1.905	0.25430	N	0.988196	D;B;B;D;D;P	0.71674	0.977;0.006;0.013;0.971;0.998;0.943	P;B;B;P;D;P	0.66602	0.597;0.004;0.017;0.659;0.945;0.5	D	0.86732	0.1949	10	0.56958	D	0.05	.	14.2564	0.66055	0.0:0.3088:0.6912:0.0	.	25;25;25;25;25;25	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	V	25	ENSP00000295550:A25V;ENSP00000315609:A25V;ENSP00000315873:A25V;ENSP00000418285:A25V;ENSP00000386844:A25V;ENSP00000295546:A25V;ENSP00000375861:A25V;ENSP00000375860:A25V;ENSP00000389539:A25V	ENSP00000295550:A25V	A	-	2	0	COL6A3	237970126	0.997000	0.39634	0.295000	0.24960	0.037000	0.13140	2.286000	0.43496	0.638000	0.30545	0.650000	0.86243	GCC		0.423	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		5	452	0	0	0	1	0	5	452					A	238305387	G	A	238305387	3	1	106	1	0	0	0	0	1	0	0	0	3710	1203	42	2	9678	2	COL6A3	2	238305387	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	10408501	238305387	4893986	26	35774											
CDCP1	64866	broad.mit.edu	37	chr3	45159953	45159953	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattctcaggactctggcaGctaaaggtaaagactattct	9	8	3	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:45159953G>A	ENST00000296129.1	-	2	377	c.243C>T	c.(241-243)agC>agT	p.S81S	CDCP1_ENST00000425231.2_Silent_p.S81S|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	81						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GACTCTGGCAGCTAAAGGTAA	0.393																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(241-243)agC>agT		CUB domain containing protein 1							116	117	116					3																	45159953		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45159953G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"CD molecules"	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.243C>T	3.37:g.45159953G>A						CDCP1_ENST00000425231.2_Silent_p.S81S|CDCP1_ENST00000490471.1_5'UTR	p.S81S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	377	-			81					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.243C>T	CCDS2727.1																																																																																				0.393	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		5	433	0	0	0	1	0	5	433					A	45159953	G	A	45159953	2	1	106	1	0	0	0	0	0	0	0	1	3102	962	34	2		2	CDCP1	3	45159953	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		45159953	152862477	27	35775											
FYCO1	79443	broad.mit.edu	37	chr3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcatctcctgggccGcatcactgggaataggttct	11	13	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1186-1188)gCg>gTg		FYVE and coiled-coil domain containing 1							164	166	166					3																	46009639		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009639G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1187C>T	3.37:g.46009639G>A	ENSP00000296137:p.Ala396Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1392	-			396					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1187C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185135	0.06340	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.03	4.72	3.29	0.37713	.	0.235442	0.37136	N	0.002234	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25363	-1.0134	10	0.38643	T	0.18	-0.0765	9.3123	0.37912	0.1481:0.0:0.8519:0.0	.	396;396	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	396	ENSP00000296137:A396V;ENSP00000441178:A396V	ENSP00000296137:A396V	A	-	2	0	FYCO1	45984643	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.032000	0.30178	0.815000	0.34398	0.655000	0.94253	GCG		0.567	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		10	1100	0	0	0	1	0	10	1100					A	46009639	G	A	46009639	3	1	106	1	0	0	0	0	1	0	0	0	6152	1087	38	1	3293	1	FYCO1	3	46009639	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	849686	46009639	152012791	28	35776											
CCR3	1232	broad.mit.edu	37	chr3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-													tgtcagggggcataactgggTttttggccatggcatgtgta							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gttfs	p.V100fs	CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	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(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488																																						ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(298-300)gtfs		chemokine (C-C motif) receptor 3							181	175	177					3																	46306948		2203	4300	6503	SO:0001589	frameshift_variant	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46306948delT	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.299delT	3.37:g.46306948delT	ENSP00000350003:p.Val100fs					CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs	p.V100fs			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	842	+			100					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	ENST00000357422.2	37	c.299delT	CCDS2738.1																																																																																				0.488	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			7	1430						7	1430	---	---	---	---	-	46306948	T	-	46306948	7	5	106	1	0	1	0	1	0	0	0	0	2951	1725	60	0	368	0	CCR3	3	46306948	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	297309	46306948	151715482	29	35777											
SMARCC1	6599	broad.mit.edu	37	chr3	47651727	47651727	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccatgctgctgctgttccaTttgctgtcgtgctcgtaatt	10	11	0	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:47651727T>C	ENST00000254480.5	-	26	2991	c.2872A>G	c.(2872-2874)Atg>Gtg	p.M958V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	958					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGCTGTTCCATTTGCTGTCGT	0.542																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2872-2874)Atg>Gtg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							309	270	283					3																	47651727		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47651727T>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2872A>G	3.37:g.47651727T>C	ENSP00000254480:p.Met958Val					SMARCC1_ENST00000425518.1_5'UTR	p.M958V	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	26	2991	-			958					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2872A>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	T	2.078	-0.411502	0.04799	.	.	ENSG00000173473	ENST00000254480	T	0.62498	0.02	5.85	4.68	0.58851	.	0.177402	0.64402	D	0.000018	T	0.31451	0.0797	N	0.02011	-0.69	0.38545	D	0.949318	B	0.06786	0.001	B	0.06405	0.002	T	0.17806	-1.0357	10	0.08837	T	0.75	-19.8043	11.3715	0.49702	0.0:0.0:0.2894:0.7106	.	958	Q92922	SMRC1_HUMAN	V	958	ENSP00000254480:M958V	ENSP00000254480:M958V	M	-	1	0	SMARCC1	47626731	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.897000	0.56273	1.014000	0.39417	-0.316000	0.08728	ATG		0.542	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			14	1004	0	0	0	1	0	14	1004					C	47651727	T	C	47651727	3	2	106	1	0	0	0	0	1	0	0	0	14825	1493	52	4	457	4	SMARCC1	3	47651727	Missense_Mutation	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	1344779	47651727	150370703	30	35778											
USP4	7375	broad.mit.edu	37	chr3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-													gtctctcagggccactgtggTcttcttcttcttctgaggct					rs370067968		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		9	667						9	667	---	---	---	---	-	49321971	TCT	-	49321969	7	5	106	1	0	1	0	1	0	0	0	0	17125	1667	58	0	591	0	USP4	3	49321969	In_Frame_Del	DEL	TCT	TCGA-Q3-A5QY-01A-12D-A32N-08	1670242	49321969	148700461	31	35779											
GNAT1	2779	broad.mit.edu	37	chr3	50231284	50231284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccactggcatcatcgagaCgcagttctccttcaaggatc	9	13	3	1	rs375795574		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:50231284C>T	ENST00000433068.1	+	5	604	c.548C>T	c.(547-549)aCg>aTg	p.T183M	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.T183M	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	183					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATCATCGAGACGCAGTTCTCC	0.652																																						ENST00000232461.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(547-549)aCg>aTg		guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1		C	MET/THR,MET/THR	0,4406		0,0,2203	81	73	76		548,548	5.7	1	3		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GNAT1	NM_000172.3,NM_144499.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	183/351,183/351	50231284	1,13005	2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231284C>T		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.548C>T	3.37:g.50231284C>T	ENSP00000387555:p.Thr183Met					GNAT1_ENST00000433068.1_Missense_Mutation_p.T183M|GNAT1_ENST00000481246.1_3'UTR	p.T183M	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	5	662	+			183					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.548C>T	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407214	0.83230	0.0	1.16E-4	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.89196	-2.48;-2.48	5.7	5.7	0.88788	.	0.045321	0.85682	D	0.000000	D	0.94945	0.8365	M	0.83118	2.625	0.47374	D	0.999403	D	0.89917	1.0	D	0.77004	0.989	D	0.95088	0.8219	10	0.72032	D	0.01	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	183	P11488	GNAT1_HUMAN	M	183	ENSP00000232461:T183M;ENSP00000387555:T183M	ENSP00000232461:T183M	T	+	2	0	GNAT1	50206288	1.000000	0.71417	0.981000	0.43875	0.984000	0.73092	4.464000	0.60134	2.711000	0.92665	0.561000	0.74099	ACG		0.652	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172		7	366	0	0	0	1	0	7	366					T	50231284	C	T	50231284	3	4	106	1	0	0	0	0	1	0	0	0	6540	536	19	1	566	1	GNAT1	3	50231284	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	909315	50231284	147791146	32	35780											
RPL24	6152	broad.mit.edu	37	chr3	101401316	101401316	+	Frame_Shift_Del	DEL	T	T	-													ttttagatgcttgcttagccTtttttgcttccttagcagcc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:101401316delT	ENST00000394077.3	-	5	455	c.350delA	c.(349-351)aagfs	p.K117fs	RPL24_ENST00000495401.1_Intron|RPL24_ENST00000469605.1_Frame_Shift_Del_p.K117fs	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	117					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGCTTAGCCTTTTTTGCTTC	0.368																																						ENST00000469605.1																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(349-351)agfs		ribosomal protein L24							110	112	111					3																	101401316		2203	4300	6503	SO:0001589	frameshift_variant	6152				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:101401316delT	AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"L ribosomal proteins"	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.350delA	3.37:g.101401316delT	ENSP00000377640:p.Lys117fs					RPL24_ENST00000394077.3_Frame_Shift_Del_p.K117fs|RPL24_ENST00000495401.1_Intron	p.K117fs			P83731	RL24_HUMAN			5	368	-			117					B2R4Y3|P38663|Q6IBS3	Frame_Shift_Del	DEL	ENST00000394077.3	37	c.350delA	CCDS33809.1																																																																																				0.368	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1	NM_000986		8	466						8	466	---	---	---	---	-	101401316	T	-	101401316	7	5	106	1	0	1	0	1	0	0	0	0	13622	1609	56	0	131	0	RPL24	3	101401316	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	51170032	101401316	96621114	33	35781											
ZIC1	7545	broad.mit.edu	37	chr3	147128819	147128819	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccctttccctgccccttccCtggctgtggcaaggtcttcg	10	17	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:147128819C>A	ENST00000282928.4	+	1	1649	c.920C>A	c.(919-921)cCt>cAt	p.P307H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	307					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						TGCCCCTTCCCTGGCTGTGGC	0.572																																						ENST00000282928.4																			0				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						c.(919-921)cCt>cAt		Zic family member 1							72	76	75					3																	147128819		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128819C>A	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.920C>A	3.37:g.147128819C>A	ENSP00000282928:p.Pro307His						p.P307H	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1649	+			307					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.920C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898249	0.72639	.	.	ENSG00000152977	ENST00000282928	D	0.91237	-2.81	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	D	0.93331	0.7874	L	0.49350	1.555	0.80722	D	1	D	0.58970	0.984	D	0.71414	0.973	D	0.93988	0.7264	10	0.59425	D	0.04	.	16.2006	0.82071	0.0:1.0:0.0:0.0	.	307	Q15915	ZIC1_HUMAN	H	307	ENSP00000282928:P307H	ENSP00000282928:P307H	P	+	2	0	ZIC1	148611509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.736000	0.68597	1.862000	0.54008	0.561000	0.74099	CCT		0.572	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		5	408	1	0	0.014758	1	0.0152933	5	408					A	147128819	C	A	147128819	3	1	106	1	0	0	0	0	1	0	0	0	17731	681	24	3	922	3	ZIC1	3	147128819	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	45727503	147128819	50893611	34	35782											
WWTR1	25937	broad.mit.edu	37	chr3	149260145	149260145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcatgagctcctcttggcGcattcgaatcctttctctct	6	15	4	1	rs200641813		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:149260145G>A	ENST00000465804.1	-	5	1004	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	WWTR1_ENST00000467467.1_Missense_Mutation_p.R250C|WWTR1_ENST00000360632.3_Missense_Mutation_p.R250C	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	250					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCCTCTTGGCGCATTCGAATC	0.552			T	CAMTA1	epitheliod hemangioendothelioma								G|||	1	0.000199681	0.0	0.0	5008	,	,		18468	0.001		0.0	False		,,,				2504	0.0					ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(748-750)Cgc>Tgc		WW domain containing transcription regulator 1							126	109	115					3																	149260145		2203	4300	6503	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260145G>A	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.748C>T	3.37:g.149260145G>A	ENSP00000419465:p.Arg250Cys					WWTR1_ENST00000360632.3_Missense_Mutation_p.R250C|WWTR1_ENST00000467467.1_Missense_Mutation_p.R250C	p.R250C	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	1004	-			250					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.748C>T	CCDS3144.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.0	4.225035	0.79576	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.55052	0.54;0.54;0.54	5.26	5.26	0.73747	.	0.229595	0.38381	N	0.001711	T	0.74496	0.3724	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.77302	-0.2638	10	0.87932	D	0	-28.3108	19.0748	0.93156	0.0:0.0:1.0:0.0	.	250	Q9GZV5	WWTR1_HUMAN	C	250;250;250;108	ENSP00000419465:R250C;ENSP00000353847:R250C;ENSP00000419234:R250C	ENSP00000353847:R250C	R	-	1	0	WWTR1	150742835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.272000	0.58908	2.733000	0.93635	0.655000	0.94253	CGC		0.552	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		5	315	0	0	0	1	0	5	315					A	149260145	G	A	149260145	3	1	106	1	0	0	0	0	1	0	0	0	17471	1087	38	1	470	1	WWTR1	3	149260145	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2131326	149260145	48762285	35	35783											
PARL	55486	broad.mit.edu	37	chr3	183547482	183547482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaatcagttcatgaccGtaagtaacataccatctgga	6	10	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423																																						ENST00000317096.4																			1	Substitution - coding silent(1)	p.Y348Y(1)	prostate(1)	endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(1042-1044)taC>taT		presenilin associated, rhomboid-like							123	127	126					3																	183547482		2203	4300	6503	SO:0001819	synonymous_variant	55486				proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	g.chr3:183547482G>A	AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.1044C>T	3.37:g.183547482G>A						PARL_ENST00000435888.1_Silent_p.Y264Y|PARL_ENST00000311101.5_Silent_p.Y298Y	p.Y348Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1104	-	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		348					Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	ENST00000317096.4	37	c.1044C>T	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.706359|1.706359	0.30232|0.30232	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000450375;ENST00000417784|ENST00000418450	T|.	0.51325|.	0.71|.	5.71|5.71	-6.81|-6.81	0.01704|0.01704	.|.	.|.	.|.	.|.	.|.	T|T	0.65883|0.65883	0.2734|0.2734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68981|0.68981	-0.5266|-0.5266	5|4	.|.	.|.	.|.	-19.5416|-19.5416	18.3207|18.3207	0.90237|0.90237	0.3327:0.0:0.6673:0.0|0.3327:0.0:0.6673:0.0	.|.	.|.	.|.	.|.	W|M	62;140|81	ENSP00000402689:R62W|.	.|.	R|T	-|-	1|2	2|0	PARL|PARL	185030176|185030176	0.001000|0.001000	0.12720|0.12720	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	-1.489000|-1.489000	0.02306|0.02306	-1.663000|-1.663000	0.01481|0.01481	-0.414000|-0.414000	0.06135|0.06135	CGG|ACG		0.423	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	NM_018622		6	748	0	0	0	1	0	6	748					A	183547482	G	A	183547482	2	1	106	1	0	0	0	0	0	0	0	1	11493	1140	40	1		1	PARL	3	183547482	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	34287337	183547482	14474948	36	35784											
ATP13A5	344905	broad.mit.edu	37	chr3	193039478	193039478	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagtgttagtacctgtttcaGatctgcagaacctggccacc	9	11	2	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr3:193039478G>T	ENST00000342358.4	-	16	2024	c.1907C>A	c.(1906-1908)tCt>tAt	p.S636Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	636						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S636F(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)		ACCTGTTTCAGATCTGCAGAA	0.463																																						ENST00000342358.4																			1	Substitution - Missense(1)	p.S636F(1)	skin(1)	NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(1906-1908)tCt>tAt		ATPase type 13A5							71	71	71					3																	193039478		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193039478G>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1907C>A	3.37:g.193039478G>T	ENSP00000341942:p.Ser636Tyr						p.S636Y	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	16	2024	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		636					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1907C>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	8.022	0.759846	0.15846	.	.	ENSG00000187527	ENST00000342358	T	0.71579	-0.58	5.5	4.62	0.57501	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.676384	0.14815	N	0.296831	T	0.65852	0.2731	L	0.41124	1.26	0.20196	N	0.999929	P	0.37176	0.586	B	0.42495	0.389	T	0.60306	-0.7289	10	0.62326	D	0.03	-1.1021	9.2597	0.37605	0.0772:0.0:0.7782:0.1446	.	636	Q4VNC0	AT135_HUMAN	Y	636	ENSP00000341942:S636Y	ENSP00000341942:S636Y	S	-	2	0	ATP13A5	194522172	0.001000	0.12720	0.470000	0.27216	0.062000	0.15995	1.160000	0.31761	1.476000	0.48215	-0.140000	0.14226	TCT		0.463	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		5	363	1	0	1	1	1	5	363					T	193039478	G	T	193039478	3	4	106	1	0	0	0	0	1	0	0	0	1128	942	33	3	1807	3	ATP13A5	3	193039478	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9491996	193039478	4982952	37	35785											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				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)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		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.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	449						8	449	---	---	---	---	-	106863684	CCA	-	106863682	7	5	106	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-Q3-A5QY-01A-12D-A32N-08		106863682	84290594	38	35786											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		10	418						10	418	---	---	---	---	-	146077125	CAG	-	146077123	7	5	106	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-Q3-A5QY-01A-12D-A32N-08	39213441	146077123	45077153	39	35787											
CHD1	1105	broad.mit.edu	37	chr5	98207791	98207791	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aggtcaggatccattttaatCatttcccagcttccatatcc	5	12	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:98207791C>A	ENST00000284049.3	-	27	3974	c.3825G>T	c.(3823-3825)atG>atT	p.M1275I	CHD1_ENST00000511067.1_5'Flank	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1275					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)	CCATTTTAATCATTTCCCAGC	0.343																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3823-3825)atG>atT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						131	135	134					5																	98207791		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98207791C>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3825G>T	5.37:g.98207791C>A	ENSP00000284049:p.Met1275Ile						p.M1275I	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	27	3974	-		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)	1275					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.3825G>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969543	0.53614	.	.	ENSG00000153922	ENST00000284049	D	0.89270	-2.49	5.29	5.29	0.74685	.	0.000000	0.40469	U	0.001094	D	0.85435	0.5696	L	0.36672	1.1	0.80722	D	1	B	0.14805	0.011	B	0.06405	0.002	T	0.80324	-0.1430	10	0.46703	T	0.11	.	19.3012	0.94144	0.0:1.0:0.0:0.0	.	1275	O14646	CHD1_HUMAN	I	1275	ENSP00000284049:M1275I	ENSP00000284049:M1275I	M	-	3	0	CHD1	98235691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.822000	0.55708	2.653000	0.90120	0.650000	0.86243	ATG		0.343	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		5	497	1	0	1	1	1	5	497					A	98207791	C	A	98207791	3	1	106	1	0	0	0	0	1	0	0	0	3332	826	29	3	1343	3	CHD1	5	98207791	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		98207791	82707469	40	35788											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-													ttcttgattcgcctgtggctCtcctcctcctcctcttcctt							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							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)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	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.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		10	1163						10	1163	---	---	---	---	-	124079815	CTC	-	124079813	7	5	106	1	0	1	0	1	0	0	0	0	18087	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-Q3-A5QY-01A-12D-A32N-08	25872022	124079813	56835447	41	35789											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	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.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	612	1	0	2.74318e-10	1	3.01448e-10	5	612					T	140553994	G	T	140553994	2	4	106	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	16474181	140553994	40361266	42	35790											
TCERG1	10915	broad.mit.edu	37	chr5	145843226	145843226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaaccgttccccagccGcaccctcagacgttacctcc	7	19	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:145843226G>A	ENST00000296702.5	+	5	1043	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	TCERG1_ENST00000394421.2_Silent_p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	335	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCCAGCCGCACCCTCAGA	0.517																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1003-1005)ccG>ccA		transcription elongation regulator 1							257	218	231					5																	145843226		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843226G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1005G>A	5.37:g.145843226G>A						TCERG1_ENST00000394421.2_Silent_p.P335P	p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1043	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	335			Pro-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.1005G>A	CCDS4282.1																																																																																				0.517	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		5	770	0	0	0	1	0	5	770					A	145843226	G	A	145843226	2	1	106	1	0	0	0	0	0	0	0	1	15737	1074	38	1		1	TCERG1	5	145843226	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	5289232	145843226	35072034	43	35791											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttggccgttttcaggtccGcaatttcctgtaagagctta	9	10	2	1	rs375720289		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:147040668G>A	ENST00000265272.5	-	3	937	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	157						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTCCGCAATTTCCTG	0.542																																						ENST00000265272.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64						c.(469-471)gCg>gTg		janus kinase and microtubule interacting protein 2		G	VAL/ALA	0,4406		0,0,2203	159	155	157		470	4.9	0.9	5		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	JAKMIP2	NM_014790.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	157/811	147040668	1,13005	2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147040668G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.470C>T	5.37:g.147040668G>A	ENSP00000265272:p.Ala157Val					JAKMIP2_ENST00000333010.6_Missense_Mutation_p.A115V|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.A157V	p.A157V	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	937	-			157					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.470C>T	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669603	0.29693	0.0	1.16E-4	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.07908	3.15;3.15;3.15	4.95	4.95	0.65309	.	0.471751	0.24786	N	0.035612	T	0.06872	0.0175	N	0.22421	0.69	0.40941	D	0.984467	B;B;B;B	0.30824	0.296;0.104;0.104;0.104	B;B;B;B	0.21708	0.036;0.036;0.036;0.016	T	0.43972	-0.9358	10	0.19147	T	0.46	.	19.0736	0.93150	0.0:0.0:1.0:0.0	.	115;157;157;157	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	V	157;157;115;157	ENSP00000421398:A157V;ENSP00000265272:A157V;ENSP00000328989:A115V	ENSP00000265272:A157V	A	-	2	0	JAKMIP2	147020861	0.999000	0.42202	0.886000	0.34754	0.096000	0.18686	6.722000	0.74735	2.675000	0.91044	0.655000	0.94253	GCG		0.542	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		6	928	0	0	0	1	0	6	928					A	147040668	G	A	147040668	3	1	106	1	0	0	0	0	1	0	0	0	7971	1087	38	1	2038	1	JAKMIP2	5	147040668	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1197442	147040668	33874592	44	35792											
CSF1R	1436	broad.mit.edu	37	chr5	149447806	149447808	+	In_Frame_Del	DEL	AGC	AGC	-													acttgtacaatagcagcaggAgcagcagcagcagcaaggcc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:149447806_149447808delAGC	ENST00000286301.3	-	11	1887_1889	c.1596_1598delGCT	c.(1594-1599)ctgctc>ctc	p.532_533LL>L	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	532					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)	Tagcagcaggagcagcagcagca	0.596																																						ENST00000286301.3																			0				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						c.(1594-1599)ctc>ct		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001651	inframe_deletion	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149447806_149447808delAGC	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.1596_1598delGCT	5.37:g.149447815_149447817delAGC	ENSP00000286301:p.Leu537del						p.LL536del	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		11	1887_1889	-			536		L -> V (in dbSNP:rs55942044).			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	In_Frame_Del	DEL	ENST00000286301.3	37	c.1596_1598delGCT	CCDS4302.1																																																																																				0.596	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		10	425						10	425	---	---	---	---	-	149447808	AGC	-	149447806	7	5	106	1	0	1	0	1	0	0	0	0	3943	304	11	0	1368	0	CSF1R	5	149447806	In_Frame_Del	DEL	AGC	TCGA-Q3-A5QY-01A-12D-A32N-08	2407138	149447806	31467454	45	35793											
CPEB4	80315	broad.mit.edu	37	chr5	173317577	173317577	+	Frame_Shift_Del	DEL	C	C	-													tggcgaataatcttaacaaaCccccctctccgtggagcagc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:173317577delC	ENST00000265085.5	+	1	2295	c.841delC	c.(841-843)cccfs	p.P282fs	CPEB4_ENST00000520867.1_Frame_Shift_Del_p.P282fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.P282fs|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.P282fs|CPEB4_ENST00000517880.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	282					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)			TCTTAACAAACCCCCCTCTCC	0.577																																						ENST00000265085.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(841-843)ccfs		cytoplasmic polyadenylation element binding protein 4							185	198	194					5																	173317577		2203	4300	6503	SO:0001589	frameshift_variant	80315						nucleotide binding|RNA binding	g.chr5:173317577delC	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.841delC	5.37:g.173317577delC	ENSP00000265085:p.Pro282fs					CPEB4_ENST00000519835.1_Frame_Shift_Del_p.P282fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.P282fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.P282fs	p.P282fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2295	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	282					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	37	c.841delC	CCDS4390.1																																																																																				0.577	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		7	1733						7	1733	---	---	---	---	-	173317577	C	-	173317577	7	5	106	1	0	1	0	1	0	0	0	0	3812	507	18	0	843	0	CPEB4	5	173317577	Frame_Shift_Del	DEL	C	TCGA-Q3-A5QY-01A-12D-A32N-08	23869771	173317577	7597683	46	35794											
MAML1	9794	broad.mit.edu	37	chr5	179200917	179200917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcctctgctgccgtgcccgGcatgaacaccttgggtccat	11	15	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr5:179200917G>A	ENST00000292599.3	+	5	2353	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTGCCCGGCATGAACACC	0.587																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(2089-2091)gGc>gAc		mastermind-like 1 (Drosophila)							129	131	130					5																	179200917		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179200917G>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2090G>A	5.37:g.179200917G>A	ENSP00000292599:p.Gly697Asp					MAML1_ENST00000503050.1_Intron	p.G697D	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2353	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	697						Missense_Mutation	SNP	ENST00000292599.3	37	c.2090G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141521	0.77775	.	.	ENSG00000161021	ENST00000292599	T	0.53206	0.63	4.67	4.67	0.58626	.	0.000000	0.64402	D	0.000002	T	0.65249	0.2673	L	0.58101	1.795	0.58432	D	0.999993	D	0.89917	1.0	D	0.71184	0.972	T	0.68281	-0.5450	10	0.56958	D	0.05	-19.2681	17.576	0.87949	0.0:0.0:1.0:0.0	.	697	Q92585	MAML1_HUMAN	D	697	ENSP00000292599:G697D	ENSP00000292599:G697D	G	+	2	0	MAML1	179133523	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.666000	0.61554	2.149000	0.67028	0.462000	0.41574	GGC		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		6	809	0	0	0	1	0	6	809					A	179200917	G	A	179200917	3	1	106	1	0	0	0	0	1	0	0	0	9246	1203	42	2	2108	2	MAML1	5	179200917	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	5883340	179200917	1714343	47	35795											
HLA-A	3105	broad.mit.edu	37	chr6	29912345	29912345	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tggttctccttggagctgtgAtcactggagctgtggtcgct	14	9	2	1	rs3180278	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:29912345A>G	ENST00000396634.1	+	7	1305	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	322					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						TGGAGCTGTGATCACTGGAGC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				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						c.(964-966)Atc>Gtc		major histocompatibility complex, class I, A							112	106	108					6																	29912345		1511	2708	4219	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912345A>G	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.964A>G	6.37:g.29912345A>G	ENSP00000379873:p.Ile322Val	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V	p.I322V			P30443	1A01_HUMAN			7	1305	+			322					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.964A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	2.787	-0.252289	0.05829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00638	6.04;6.04;6.04	3.09	-4.5	0.03493	.	1.170570	0.06908	N	0.807074	T	0.00073	0.0002	N	0.00387	-1.565	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.39292	-0.9621	10	0.87932	D	0	.	1.172	0.01827	0.2182:0.2979:0.3261:0.1578	.	201;322;322;322;322	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	V	322	ENSP00000379873:I322V;ENSP00000366002:I322V;ENSP00000366005:I322V	ENSP00000366002:I322V	I	+	1	0	HLA-A	30020324	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.536000	0.06135	-1.069000	0.03153	-2.032000	0.00423	ATC		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	237	0	0	0	1	0	4	237					G	29912345	A	G	29912345	3	3	106	1	0	0	0	0	1	0	0	0	7225	333	12	4	982	4	HLA-A	6	29912345	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08		29912345	141202722	48	35796											
EHMT2	10919	broad.mit.edu	37	chr6	31850736	31850736	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagcacgcctggttacactcGaaaatcagcggaggctcaat	11	11	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:31850736G>A	ENST00000375537.4	-	24	3051	c.3045C>T	c.(3043-3045)ttC>ttT	p.F1015F	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.F1038F|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Silent_p.F1072F|EHMT2_ENST00000375530.4_Silent_p.F981F	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1015	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				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						GGTTACACTCGAAAATCAGCG	0.577																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3214-3216)ttC>ttT		euchromatic histone-lysine N-methyltransferase 2							70	70	70					6																	31850736		1511	2709	4220	SO:0001819	synonymous_variant	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31850736G>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3045C>T	6.37:g.31850736G>A						EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.F981F|EHMT2_ENST00000375528.4_Silent_p.F1038F|EHMT2_ENST00000375537.4_Silent_p.F1015F	p.F1072F			Q96KQ7	EHMT2_HUMAN			23	3215	-			1015			SET.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	ENST00000375537.4	37	c.3216C>T	CCDS4725.1																																																																																				0.577	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		5	331	0	0	0	1	0	5	331					A	31850736	G	A	31850736	2	1	106	1	0	0	0	0	0	0	0	1	5000	1049	37	1		1	EHMT2	6	31850736	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1938391	31850736	139264331	49	35797											
RXRB	6257	broad.mit.edu	37	chr6	33166123	33166123	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgcacatagccgtttgCcagccccagggccacctgga	11	14	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:33166123C>T	ENST00000374680.3	-	3	813	c.602G>A	c.(601-603)gGc>gAc	p.G201D	SLC39A7_ENST00000374675.3_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374677.3_5'Flank|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D|RXRB_ENST00000374685.4_Missense_Mutation_p.G201D	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	201	Modulating. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II 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)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGCCGTTTGCCAGCCCCAGG	0.622																																						ENST00000374680.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(601-603)gGc>gAc		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						123	144	136					6																	33166123		1508	2707	4215	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33166123C>T	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"Nuclear hormone receptors"	10478	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 2"	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.602G>A	6.37:g.33166123C>T	ENSP00000363812:p.Gly201Asp					RXRB_ENST00000374685.4_Missense_Mutation_p.G201D|RXRB_ENST00000413614.2_Missense_Mutation_p.G105D|RXRB_ENST00000544186.1_Missense_Mutation_p.G11D	p.G201D	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			3	813	-			201			Modulating (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.602G>A	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864280	0.51482	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	D;D;D;D	0.93189	-3.16;-3.16;-3.18;-3.0	5.11	5.11	0.69529	.	0.376195	0.30649	N	0.009176	D	0.91553	0.7332	N	0.19112	0.55	0.43187	D	0.995017	D;D;D;B;B;P;P;P	0.69078	0.997;0.988;0.995;0.04;0.305;0.737;0.92;0.737	D;P;P;B;B;B;B;B	0.63597	0.916;0.837;0.72;0.045;0.109;0.22;0.345;0.22	D	0.92106	0.5692	10	0.45353	T	0.12	.	16.0896	0.81084	0.0:1.0:0.0:0.0	.	105;201;84;11;201;201;241;201	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	D	201;201;11;105	ENSP00000363817:G201D;ENSP00000363812:G201D;ENSP00000439222:G11D;ENSP00000415561:G105D	ENSP00000363812:G201D	G	-	2	0	RXRB	33274101	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.205000	0.42770	2.644000	0.89710	0.549000	0.68633	GGC		0.622	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		6	953	0	0	0	1	0	6	953					T	33166123	C	T	33166123	3	4	106	1	0	0	0	0	1	0	0	0	13814	739	26	2	1031	2	RXRB	6	33166123	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	1315387	33166123	137948944	50	35798											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-													ctttagccttctgcacatgcTttttttgcatcatgcctttc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502																																						ENST00000192788.5																			1	Insertion - Frameshift(1)	p.L666fs*15(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1990-1992)ctfs		UHRF1 binding protein 1							170	155	159					6																	34826124		1916	4147	6063	SO:0001589	frameshift_variant	54887							g.chr6:34826124delT	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.1991delT	6.37:g.34826124delT	ENSP00000192788:p.Leu664fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2162	+			664					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.1991delT	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	641						7	641	---	---	---	---	-	34826124	T	-	34826124	7	5	106	1	0	1	0	1	0	0	0	0	17022	1609	56	0	2045	0	UHRF1BP1	6	34826124	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	1660001	34826124	136288943	51	35799											
GRIK2	2898	broad.mit.edu	37	chr6	102134137	102134137	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatattaaatacagaaaataCccaagtctcctccatcattg	3	10	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr6:102134137C>T	ENST00000421544.1	+	6	1350	c.860C>T	c.(859-861)aCc>aTc	p.T287I	GRIK2_ENST00000358361.3_Missense_Mutation_p.T287I|GRIK2_ENST00000369138.1_Missense_Mutation_p.T287I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T287I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T287I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T287I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T238I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	287					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)	ACAGAAAATACCCAAGTCTCC	0.423																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(859-861)aCc>aTc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						95	94	94					6																	102134137		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102134137C>T		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.860C>T	6.37:g.102134137C>T	ENSP00000397026:p.Thr287Ile					GRIK2_ENST00000318991.6_Missense_Mutation_p.T287I|GRIK2_ENST00000358361.3_Missense_Mutation_p.T287I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T238I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T287I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T287I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T287I	p.T287I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	6	1350	+		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)	287					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.860C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092200	0.36952	.	.	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	5.84	4.03	0.46877	Extracellular ligand-binding receptor (1);	0.157085	0.53938	D	0.000043	T	0.47857	0.1468	N	0.04508	-0.205	0.26912	N	0.966869	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.49082	-0.8976	10	0.66056	D	0.02	.	10.6595	0.45694	0.0:0.6482:0.2676:0.0843	.	287;287;287	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	287;287;287;287;287;287;287;238;249	ENSP00000397026:T287I;ENSP00000405596:T287I;ENSP00000358134:T287I;ENSP00000351128:T287I;ENSP00000358133:T287I;ENSP00000313276:T287I;ENSP00000358130:T238I	ENSP00000313276:T287I	T	+	2	0	GRIK2	102240830	0.997000	0.39634	0.911000	0.35937	0.907000	0.53573	2.346000	0.44027	1.471000	0.48121	0.655000	0.94253	ACC		0.423	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	325	0	0	0	1	0	6	325					T	102134137	C	T	102134137	3	4	106	1	0	0	0	0	1	0	0	0	6804	507	18	2	882	2	GRIK2	6	102134137	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	67308013	102134137	68980930	52	35800											
GLCCI1	113263	broad.mit.edu	37	chr7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctttggcaactctgaccGttgagcagctctcatcccgg	10	14	2	2	rs374066040		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1480-1482)Gtt>Att		glucocorticoid induced transcript 1		G	ILE/VAL	0,4406		0,0,2203	191	208	203		1480	3.5	0.6	7		203	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLCCI1	NM_138426.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	494/548	8126004	1,13005	2203	4300	6503	SO:0001583	missense	113263							g.chr7:8126004G>A	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1480G>A	7.37:g.8126004G>A	ENSP00000223145:p.Val494Ile						p.V494I	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2037	+		Ovarian(82;0.0608)	494					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1480G>A	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155287	0.38021	0.0	1.16E-4	ENSG00000106415	ENST00000223145	.	.	.	5.32	3.52	0.40303	.	0.448294	0.24215	N	0.040481	T	0.39886	0.1095	N	0.22421	0.69	0.42198	D	0.991752	B	0.27971	0.196	B	0.14578	0.011	T	0.22730	-1.0208	9	0.35671	T	0.21	-30.1131	11.7827	0.52023	0.1412:0.0:0.8588:0.0	.	494	Q86VQ1	GLCI1_HUMAN	I	494	.	ENSP00000223145:V494I	V	+	1	0	GLCCI1	8092529	1.000000	0.71417	0.644000	0.29465	0.179000	0.23085	2.871000	0.48459	0.941000	0.37499	0.655000	0.94253	GTT		0.552	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		8	1431	0	0	0	1	0	8	1431					A	8126004	G	A	8126004	3	1	106	1	0	0	0	0	1	0	0	0	6460	1145	40	1	1510	1	GLCCI1	7	8126004	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		8126004	151012659	53	35801											
RFC2	5982	broad.mit.edu	37	chr7	73663432	73663432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagaatgcttgtggtcttgCcggttcctggagggccctgg	15	10	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:73663432C>T	ENST00000055077.3	-	4	302	c.242G>A	c.(241-243)gGc>gAc	p.G81D	RFC2_ENST00000352131.3_Missense_Mutation_p.G81D	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	81					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)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						TGTGGTCTTGCCGGTTCCTGG	0.517																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.(241-243)gGc>gAc		replication factor C (activator 1) 2, 40kDa							73	77	75					7																	73663432		2203	4300	6503	SO:0001583	missense	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73663432C>T		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"ATPases / AAA-type"	9970	protein-coding gene	gene with protein product	"activator 1"	600404	"replication factor C (activator 1) 2 (40kD)"			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.242G>A	7.37:g.73663432C>T	ENSP00000055077:p.Gly81Asp					RFC2_ENST00000352131.3_Missense_Mutation_p.G81D	p.G81D	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN			4	302	-			81					B5BU07|D3DXG3|P32846|Q9BU93	Missense_Mutation	SNP	ENST00000055077.3	37	c.242G>A	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040840	0.75732	.	.	ENSG00000049541	ENST00000352131;ENST00000055077	D;D	0.93859	-3.3;-3.3	4.65	4.65	0.58169	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.047563	0.85682	D	0.000000	D	0.97523	0.9189	H	0.98769	4.325	0.80722	D	1	P;P;D	0.56746	0.705;0.749;0.977	P;P;P	0.55112	0.519;0.651;0.769	D	0.98834	1.0752	10	0.87932	D	0	.	14.6174	0.68558	0.0:1.0:0.0:0.0	.	81;81;81	P35250-2;Q75MT5;P35250	.;.;RFC2_HUMAN	D	81	ENSP00000275627:G81D;ENSP00000055077:G81D	ENSP00000055077:G81D	G	-	2	0	RFC2	73301368	1.000000	0.71417	0.992000	0.48379	0.622000	0.37654	7.444000	0.80532	2.318000	0.78349	0.455000	0.32223	GGC		0.517	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471		5	497	0	0	0	1	0	5	497					T	73663432	C	T	73663432	3	4	106	1	0	0	0	0	1	0	0	0	13295	739	26	2	854	2	RFC2	7	73663432	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	65537428	73663432	85475231	54	35802											
PCLO	27445	broad.mit.edu	37	chr7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-													ttttgtcttcaggggttggcTttttttcttctaggagtggc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	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						AGGGGTTGGCTTTTTTTCTTC	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3718-3720)agfs		piccolo presynaptic cytomatrix protein							241	235	237					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	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.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4056	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	1501						7	1501	---	---	---	---	-	82595385	T	-	82595385	7	5	106	1	0	1	0	1	0	0	0	0	11625	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	8931953	82595385	76543278	55	35803											
SRI	6717	broad.mit.edu	37	chr7	87840221	87840221	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcattgaaaccataagccgGcaagtctccaggttaaaagc	9	10	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:87840221G>A	ENST00000265729.2	-	4	277	c.225C>T	c.(223-225)tgC>tgT	p.C75C	SRI_ENST00000490437.1_Silent_p.C32C|SRI_ENST00000431660.1_Silent_p.C60C|SRI_ENST00000419179.1_Silent_p.C75C|SRI_ENST00000394641.3_Silent_p.C60C	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	75	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				action potential (GO:0001508)|calcium ion transport (GO:0006816)|cytoplasmic sequestering of transcription factor (GO:0042994)|heart development (GO:0007507)|intracellular sequestering of iron ion (GO:0006880)|muscle organ development (GO:0007517)|negative regulation of heart rate (GO:0010459)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|proteolysis (GO:0006508)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart contraction (GO:0008016)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of relaxation of muscle (GO:1901077)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of striated muscle contraction (GO:0006942)|signal transduction (GO:0007165)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|ion channel binding (GO:0044325)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					CCATAAGCCGGCAAGTCTCCA	0.284																																						ENST00000265729.2																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(223-225)tgC>tgT		sorcin							51	52	52					7																	87840221		2203	4295	6498	SO:0001819	synonymous_variant	6717				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding	g.chr7:87840221G>A	M32886	CCDS5612.1, CCDS47638.1, CCDS59063.1	7q21.1	2014-09-17			ENSG00000075142	ENSG00000075142		"EF-hand domain containing"	11292	protein-coding gene	gene with protein product		182520				2901906	Standard	NM_001256891		Approved		uc003ujq.2	P30626	OTTHUMG00000157267	ENST00000265729.2:c.225C>T	7.37:g.87840221G>A						SRI_ENST00000394641.3_Silent_p.C60C|SRI_ENST00000419179.1_Silent_p.C75C|SRI_ENST00000490437.1_Silent_p.C32C|SRI_ENST00000431660.1_Silent_p.C60C	p.C75C	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN			4	277	-	Esophageal squamous(14;0.00202)		75			EF-hand 2.		A8MTH6|B4DKK2|D6W5Q0	Silent	SNP	ENST00000265729.2	37	c.225C>T	CCDS5612.1																																																																																				0.284	SRI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253680.1	NM_003130		5	277	0	0	0	1	0	5	277					A	87840221	G	A	87840221	2	1	106	1	0	0	0	0	0	0	0	1	15201	1195	42	2		2	SRI	7	87840221	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	5244836	87840221	71298442	56	35804											
SAMD9L	219285	broad.mit.edu	37	chr7	92761818	92761818	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagctcttgaggctttttccGcagcttctaggagatgtgtt	11	8	2	2	rs374886942		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:92761818G>A	ENST00000318238.4	-	5	4683	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1156V|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1156V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1156					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)			GGCTTTTTCCGCAGCTTCTAG	0.413																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(3466-3468)gCg>gTg		sterile alpha motif domain containing 9-like		G	VAL/ALA	0,4406		0,0,2203	130	136	134		3467	4	0.9	7		134	2,8598	2.2+/-6.3	0,2,4298	no	missense	SAMD9L	NM_152703.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1156/1585	92761818	2,13004	2203	4300	6503	SO:0001583	missense	219285							g.chr7:92761818G>A	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.3467C>T	7.37:g.92761818G>A	ENSP00000326247:p.Ala1156Val					SAMD9L_ENST00000411955.1_Missense_Mutation_p.A1156V|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A1156V	p.A1156V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	4683	-	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)		1156					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.3467C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441676	0.43326	0.0	2.33E-4	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.29917	1.55;1.55;1.55	4.88	4.0	0.46444	.	0.000000	0.64402	D	0.000001	T	0.30634	0.0771	M	0.71036	2.16	0.51767	D	0.999932	P	0.47350	0.894	B	0.35971	0.215	T	0.35051	-0.9804	10	0.87932	D	0	-9.6701	12.8992	0.58115	0.0796:0.0:0.9204:0.0	.	1156	Q8IVG5	SAM9L_HUMAN	V	1156	ENSP00000326247:A1156V;ENSP00000405760:A1156V;ENSP00000408796:A1156V	ENSP00000326247:A1156V	A	-	2	0	SAMD9L	92599754	0.996000	0.38824	0.853000	0.33588	0.020000	0.10135	2.453000	0.44970	1.283000	0.44513	-0.373000	0.07131	GCG		0.413	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		7	818	0	0	0	1	0	7	818					A	92761818	G	A	92761818	3	1	106	1	0	0	0	0	1	0	0	0	13877	1087	38	1	1291	1	SAMD9L	7	92761818	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	4921597	92761818	66376845	57	35805											
RNF133	168433	broad.mit.edu	37	chr7	122338787	122338787	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagtggagcttcttccAaagactccagtctctcccaa	6	13	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr7:122338787A>T	ENST00000340112.2	-	1	423	c.186T>A	c.(184-186)ttT>ttA	p.F62L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	62					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCTTCTTCCAAAGACTCCAG	0.423																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(184-186)ttT>ttA		ring finger protein 133							108	110	110					7																	122338787		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338787A>T	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.186T>A	7.37:g.122338787A>T	ENSP00000344489:p.Phe62Leu					CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	p.F62L	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	423	-			62					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.186T>A	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079128	0.76528	.	.	ENSG00000188050	ENST00000340112	T	0.24538	1.85	6.06	3.71	0.42584	.	0.154247	0.43747	D	0.000537	T	0.42471	0.1204	M	0.65498	2.005	0.80722	D	1	D	0.55605	0.972	P	0.60012	0.867	T	0.25710	-1.0124	10	0.87932	D	0	.	9.7273	0.40339	0.8574:0.0:0.1426:0.0	.	62	Q8WVZ7	RN133_HUMAN	L	62	ENSP00000344489:F62L	ENSP00000344489:F62L	F	-	3	2	RNF133	122126023	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	0.994000	0.29693	0.542000	0.28846	0.533000	0.62120	TTT		0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		9	580	0	0	0	1	0	9	580					T	122338787	A	T	122338787	3	4	106	1	0	0	0	0	1	0	0	0	13489	127	5	5	948	5	RNF133	7	122338787	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	29576969	122338787	36799876	58	35806											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732058	37732058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttgacagctctggtctgggGagccctcggagaggaaattg	15	9	2	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:37732058G>A	ENST00000330843.4	-	3	1609	c.1597C>T	c.(1597-1599)Ccc>Tcc	p.P533S	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	533					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)			CTGGTCTGGGGAGCCCTCGGA	0.542																																						ENST00000330843.4																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1597-1599)Ccc>Tcc		RAB11 family interacting protein 1 (class I)							60	59	59					8																	37732058		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732058G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1597C>T	8.37:g.37732058G>A	ENSP00000331342:p.Pro533Ser					RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.P385S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.P533S|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.P385S	p.P533S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1609	-		Lung NSC(58;0.118)|all_lung(54;0.195)	533					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1597C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937277	0.52972	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31247	2.24;2.1;1.51;1.5	5.03	4.14	0.48551	.	0.408600	0.23672	N	0.045718	T	0.16300	0.0392	L	0.32530	0.975	0.19300	N	0.999972	B;B;P;P	0.38148	0.068;0.194;0.617;0.62	B;B;B;B	0.33960	0.009;0.066;0.173;0.138	T	0.10428	-1.0630	10	0.12766	T	0.61	-6.1245	4.077	0.09909	0.0874:0.1748:0.5807:0.1571	.	385;385;533;533	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	S	533;533;385;385	ENSP00000287263:P533S;ENSP00000331342:P533S;ENSP00000430009:P385S;ENSP00000430680:P385S	ENSP00000287263:P533S	P	-	1	0	RAB11FIP1	37851216	0.984000	0.35163	0.794000	0.32065	0.871000	0.50021	2.561000	0.45905	1.071000	0.40834	0.655000	0.94253	CCC		0.542	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		7	442	0	0	0	1	0	7	442					A	37732058	G	A	37732058	3	1	106	1	0	0	0	0	1	0	0	0	12943	1174	41	2	2270	2	RAB11FIP1	8	37732058	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		37732058	108631964	59	35807											
LETM2	137994	broad.mit.edu	37	chr8	38261966	38261966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccttttgctcctgtcccGcaccttctacctgatagatg	6	15	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:38261966G>A	ENST00000379957.4	+	8	1287	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000297720.5_Missense_Mutation_p.R292H|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000523983.2_Missense_Mutation_p.R340H	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	387						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTCCTGTCCCGCACCTTCTAC	0.557																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1159-1161)cGc>cAc		leucine zipper-EF-hand containing transmembrane protein 2							188	149	162					8																	38261966		2203	4300	6503	SO:0001583	missense	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38261966G>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1160G>A	8.37:g.38261966G>A	ENSP00000369291:p.Arg387His					LETM2_ENST00000297720.5_Missense_Mutation_p.R292H|LETM2_ENST00000524874.1_Missense_Mutation_p.R339H|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.R340H|LETM2_ENST00000527710.1_Missense_Mutation_p.R173H	p.R387H	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		8	1287	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	387					A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	ENST00000379957.4	37	c.1160G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.869142	0.91587	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	.	.	.	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.77315	0.4112	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.67725	0.953;0.881;0.912	T	0.80997	-0.1132	9	0.87932	D	0	-0.692	16.1208	0.81357	0.0:0.0:0.8653:0.1347	.	184;387;339	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	H	292;339;387;340;173	.	ENSP00000297720:R292H	R	+	2	0	LETM2	38381123	1.000000	0.71417	0.552000	0.28243	0.981000	0.71138	9.257000	0.95545	1.455000	0.47813	0.644000	0.83932	CGC		0.557	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		6	345	0	0	0	1	0	6	345					A	38261966	G	A	38261966	3	1	106	1	0	0	0	0	1	0	0	0	8766	1087	38	1	893	1	LETM2	8	38261966	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	529908	38261966	108102056	60	35808											
TERF1	7013	broad.mit.edu	37	chr8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-													aggtgcaggtgggggcccccGaggaggaggaggaggaggag							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(163-165)del		telomeric repeat binding factor (NIMA-interacting) 1																																				SO:0001651	inframe_deletion	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921284_73921286delGAG	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del					TERF1_ENST00000276603.5_In_Frame_Del_p.E62del	p.E62del	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	186_188	+	Breast(64;0.218)		62			Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	ENST00000276603.5	37	c.163_165delGAG	CCDS6211.1																																																																																				0.65	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		7	101						7	101	---	---	---	---	-	73921286	GAG	-	73921284	7	5	106	1	0	1	0	1	0	0	0	0	15813	1059	37	0	165	0	TERF1	8	73921284	In_Frame_Del	DEL	GAG	TCGA-Q3-A5QY-01A-12D-A32N-08	35659318	73921284	72442738	61	35809											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					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)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	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.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		9	1127						9	1127	---	---	---	---	-	105440214	T	-	105440214	7	5	106	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	31518930	105440214	40923808	62	35810											
ZC3H3	23144	broad.mit.edu	37	chr8	144547942	144547942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgcagacctcggccttgCgggacacgtacacgtggcta	13	14	0	1	rs113716075		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr8:144547942C>T	ENST00000262577.5	-	9	2283	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	751					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)			CTCGGCCTTGCGGGACACGTA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19798	0.0		0.001	False		,,,				2504	0.0					ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2251-2253)cGc>cAc		zinc finger CCCH-type containing 3		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	107	87	94		2252	2.7	1	8	dbSNP_132	94	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZC3H3	NM_015117.2	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	751/949	144547942	3,13003	2203	4300	6503	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144547942C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2252G>A	8.37:g.144547942C>T	ENSP00000262577:p.Arg751His						p.R751H	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		9	2283	-	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)		751					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.2252G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915110	0.52546	4.54E-4	1.16E-4	ENSG00000014164	ENST00000262577	T	0.71341	-0.56	4.9	2.7	0.31948	Zinc finger, CCCH-type (2);	0.132811	0.49305	D	0.000156	T	0.53174	0.1780	L	0.31526	0.94	0.38805	D	0.955289	P	0.39520	0.676	B	0.32022	0.139	T	0.60637	-0.7224	10	0.72032	D	0.01	-20.5515	10.588	0.45294	0.1341:0.7844:0.0:0.0815	.	751	Q8IXZ2	ZC3H3_HUMAN	H	751	ENSP00000262577:R751H	ENSP00000262577:R751H	R	-	2	0	ZC3H3	144619085	1.000000	0.71417	0.993000	0.49108	0.843000	0.47879	3.695000	0.54749	1.057000	0.40506	0.561000	0.74099	CGC		0.632	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		5	333	0	0	0	1	0	5	333					T	144547942	C	T	144547942	3	4	106	1	0	0	0	0	1	0	0	0	17622	768	27	1	610	1	ZC3H3	8	144547942	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	39107728	144547942	1816080	63	35811											
RLN2	6019	broad.mit.edu	37	chr9	5304440	5304440	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctccaggtgctcatgccGcaaatggcaatctgcgcgcg	12	13	2	0	rs544671340		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(139-141)tgC>tgT		relaxin 2							41	42	42					9																	5304440		2203	4297	6500	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304440G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.141C>T	9.37:g.5304440G>A						RLN2_ENST00000308420.3_Silent_p.C47C	p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	529	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	47					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.141C>T	CCDS6460.1																																																																																				0.552	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		5	280	0	0	0	1	0	5	280					A	5304440	G	A	5304440	2	1	106	1	0	0	0	0	0	0	0	1	13442	1079	38	1		1	RLN2	9	5304440	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		5304440	135908991	64	35812											
TAF1L	138474	broad.mit.edu	37	chr9	32633025	32633025	+	Frame_Shift_Del	DEL	T	T	-													tctgaatgggaaggaaaggcTttttttatatcttccattcg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:32633025delT	ENST00000242310.4	-	1	2642	c.2553delA	c.(2551-2553)aaafs	p.K851fs	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	851					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGAAAGGCTTTTTTTATAT	0.443																																						ENST00000242310.4																			0				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						c.(2551-2553)aafs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							113	120	117					9																	32633025		2203	4298	6501	SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633025delT	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.2553delA	9.37:g.32633025delT	ENSP00000418379:p.Lys851fs						p.K851fs	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2642	-			851					Q0VG57	Frame_Shift_Del	DEL	ENST00000242310.4	37	c.2553delA	CCDS35003.1																																																																																				0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	735						7	735	---	---	---	---	-	32633025	T	-	32633025	7	5	106	1	0	1	0	1	0	0	0	0	15575	1606	56	0	2931	0	TAF1L	9	32633025	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	27328585	32633025	108580406	65	35813											
SMU1	55234	broad.mit.edu	37	chr9	33068870	33068870	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccacactgacttcGccagctaaggcctgggcaat	12	13	0	1	rs113018466		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191	152	166		453	-0.1	1	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"WD repeat domain containing"	18247	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 57"					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		7	264	0	0	0	1	0	7	264					A	33068870	G	A	33068870	2	1	106	1	0	0	0	0	0	0	0	1	14867	1074	38	1		1	SMU1	9	33068870	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	435845	33068870	108144561	66	35814											
KIAA1045	23349	broad.mit.edu	37	chr9	34972446	34972446	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgatggctgcctgcgccGcatgggctacatccaaggag	13	13	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:34972446G>A	ENST00000242315.3	+	3	564	c.482G>A	c.(481-483)cGc>cAc	p.R161H	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R161H|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	161							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGCCTGCGCCGCATGGGCTAC	0.577																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(481-483)cGc>cAc		KIAA1045							108	116	113					9																	34972446		2060	4209	6269	SO:0001583	missense	23349						calcium ion binding	g.chr9:34972446G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.482G>A	9.37:g.34972446G>A	ENSP00000242315:p.Arg161His					KIAA1045_ENST00000544237.1_Missense_Mutation_p.R161H|KIAA1045_ENST00000476115.2_3'UTR	p.R161H	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	564	+			161					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.482G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	26.1	4.706470	0.89018	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	4.84	0.62591	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.131353	0.53938	D	0.000049	T	0.51822	0.1697	M	0.62723	1.935	0.43304	D	0.995305	P	0.37141	0.584	B	0.29598	0.104	T	0.56195	-0.8019	9	0.51188	T	0.08	-11.7038	13.7849	0.63104	0.0733:0.0:0.9267:0.0	.	161	Q9UPV7	K1045_HUMAN	H	161	.	ENSP00000242315:R161H	R	+	2	0	KIAA1045	34962446	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.616000	0.67709	1.429000	0.47314	0.655000	0.94253	CGC		0.577	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		6	574	0	0	0	1	0	6	574					A	34972446	G	A	34972446	3	1	106	1	0	0	0	0	1	0	0	0	8237	1087	38	1	488	1	KIAA1045	9	34972446	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1903576	34972446	106240985	67	35815											
C9orf131	138724	broad.mit.edu	37	chr9	35044336	35044336	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacccccagctcttgcaccGgagctgctcagagttagatc	9	16	2	2	rs115027328		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:35044336G>A	ENST00000312292.5	+	2	1757	c.1710G>A	c.(1708-1710)ccG>ccA	p.P570P	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Silent_p.P522P|C9orf131_ENST00000354479.5_Silent_p.P497P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	570										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)			CTCTTGCACCGGAGCTGCTCA	0.527																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(1708-1710)ccG>ccA		chromosome 9 open reading frame 131							125	128	127					9																	35044336		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35044336G>A	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.1710G>A	9.37:g.35044336G>A						C9orf131_ENST00000354479.5_Silent_p.P497P|C9orf131_ENST00000421362.2_Silent_p.P522P	p.P570P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1757	+	all_epithelial(49;0.22)		570					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.1710G>A	CCDS6572.2																																																																																				0.527	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		6	833	0	0	0	1	0	6	833					A	35044336	G	A	35044336	2	1	106	1	0	0	0	0	0	0	0	1	2464	1103	39	1		1	C9orf131	9	35044336	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	71890	35044336	106169095	68	35816											
FKBP15	23307	broad.mit.edu	37	chr9	115969556	115969556	+	Frame_Shift_Del	DEL	T	T	-													gctcatggtggctggtgctgTttttggtgttgcctgatttc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:115969556delT	ENST00000238256.3	-	3	307	c.190delA	c.(190-192)acafs	p.T64fs	FKBP15_ENST00000493847.1_5'UTR	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	64					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCTGGTGCTGTTTTTGGTGTT	0.418																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(190-192)cafs		FK506 binding protein 15, 133kDa							333	353	347					9																	115969556		2103	4234	6337	SO:0001589	frameshift_variant	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115969556delT	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.190delA	9.37:g.115969556delT	ENSP00000238256:p.Thr64fs					FKBP15_ENST00000493847.1_5'UTR	p.T64fs	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			3	307	-			64					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Frame_Shift_Del	DEL	ENST00000238256.3	37	c.190delA	CCDS48007.1																																																																																				0.418	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		7	1455						7	1455	---	---	---	---	-	115969556	T	-	115969556	7	5	106	1	0	1	0	1	0	0	0	0	5930	1725	60	0	3573	0	FKBP15	9	115969556	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	80925220	115969556	25243875	69	35817											
ZBTB26	57684	broad.mit.edu	37	chr9	125681305	125681305	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagtgaaagtcttgccGcagagtagacacataaagag	11	7	2	5			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:125681305G>A	ENST00000373656.3	-	2	982	c.909C>T	c.(907-909)tgC>tgT	p.C303C	ZBTB26_ENST00000373654.1_Silent_p.C303C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						AAGTCTTGCCGCAGAGTAGAC	0.458																																						ENST00000373656.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(907-909)tgC>tgT		zinc finger and BTB domain containing 26							84	80	81					9																	125681305		2203	4300	6503	SO:0001819	synonymous_variant	57684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125681305G>A	AB046792	CCDS6847.1	9q34.11	2013-01-08	2004-04-15	2004-04-16	ENSG00000171448	ENSG00000171448		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	23383	protein-coding gene	gene with protein product			"zinc finger protein 481"	ZNF481			Standard	NM_020924		Approved		uc004bnk.3	Q9HCK0	OTTHUMG00000020627	ENST00000373656.3:c.909C>T	9.37:g.125681305G>A						ZBTB26_ENST00000373654.1_Silent_p.C303C	p.C303C	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN			2	982	-			303					B3KQ53|Q8WTR1	Silent	SNP	ENST00000373656.3	37	c.909C>T	CCDS6847.1																																																																																				0.458	ZBTB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053960.1	NM_020924		6	479	0	0	0	1	0	6	479					A	125681305	G	A	125681305	2	1	106	1	0	0	0	0	0	0	0	1	17586	1079	38	1		1	ZBTB26	9	125681305	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9711749	125681305	15532126	70	35818											
NEK6	10783	broad.mit.edu	37	chr9	127089667	127089667	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgggcgtcgtgaagctcGgtgaccttggtctgggccgc	16	13	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:127089667G>A	ENST00000320246.5	+	7	710	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	NEK6_ENST00000373603.1_Missense_Mutation_p.G189S|NEK6_ENST00000394199.2_Missense_Mutation_p.G223S|NEK6_ENST00000539416.1_Missense_Mutation_p.G214S|NEK6_ENST00000545174.1_Missense_Mutation_p.G189S|NEK6_ENST00000373600.3_Missense_Mutation_p.G223S|NEK6_ENST00000546191.1_Missense_Mutation_p.G189S|NEK6_ENST00000540326.1_Missense_Mutation_p.G207S	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CGTGAAGCTCGGTGACCTTGG	0.632																																					NSCLC(122;934 1785 18647 44295 45571)	ENST00000373600.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(667-669)Ggt>Agt		NIMA-related kinase 6							243	214	224					9																	127089667		2203	4300	6503	SO:0001583	missense	10783				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity	g.chr9:127089667G>A	AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.565G>A	9.37:g.127089667G>A	ENSP00000319734:p.Gly189Ser					NEK6_ENST00000373603.1_Missense_Mutation_p.G189S|NEK6_ENST00000546191.1_Missense_Mutation_p.G189S|NEK6_ENST00000540326.1_Missense_Mutation_p.G207S|NEK6_ENST00000394199.2_Missense_Mutation_p.G223S|NEK6_ENST00000539416.1_Missense_Mutation_p.G214S|NEK6_ENST00000320246.5_Missense_Mutation_p.G189S|NEK6_ENST00000545174.1_Missense_Mutation_p.G189S	p.G223S	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN			8	882	+			189			Protein kinase.		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	c.667G>A	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	G	37	5.991746	0.97179	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416	T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	3.21;3.21;3.21;3.21;3.21;1.9;1.15;3.21;1.9;3.21;3.21;1.9;3.21	5.95	5.95	0.96441	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	0.57755	0.2075	L	0.52364	1.645	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;0.995;0.997;0.998	T	0.56189	-0.8020	10	0.87932	D	0	.	19.3735	0.94500	0.0:0.0:1.0:0.0	.	214;223;189;207	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	S	189;207;223;189;121;189;189;121;189;189;223;189;189;214	ENSP00000362705:G189S;ENSP00000441469:G207S;ENSP00000362702:G223S;ENSP00000319734:G189S;ENSP00000442636:G189S;ENSP00000389517:G189S;ENSP00000405215:G121S;ENSP00000362698:G189S;ENSP00000403087:G189S;ENSP00000377749:G223S;ENSP00000441426:G189S;ENSP00000411401:G189S;ENSP00000439651:G214S	ENSP00000319734:G189S	G	+	1	0	NEK6	126129488	1.000000	0.71417	0.651000	0.29564	0.949000	0.60115	9.274000	0.95731	2.825000	0.97269	0.655000	0.94253	GGT		0.632	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397		7	1113	0	0	0	1	0	7	1113					A	127089667	G	A	127089667	3	1	106	1	0	0	0	0	1	0	0	0	10370	1116	39	1	772	1	NEK6	9	127089667	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1408362	127089667	14123764	71	35819											
FUBP3	8939	broad.mit.edu	37	chr9	133499056	133499056	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccctccggatcggtgtcaGcatgcagcgcatatcatcag	12	13	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr9:133499056G>A	ENST00000319725.9	+	11	1008	c.933G>A	c.(931-933)caG>caA	p.Q311Q		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	311	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		ATCGGTGTCAGCATGCAGCGC	0.547																																						ENST00000319725.9																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21						c.(931-933)caG>caA		far upstream element (FUSE) binding protein 3							99	102	101					9																	133499056		2031	4205	6236	SO:0001819	synonymous_variant	8939				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding	g.chr9:133499056G>A	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.933G>A	9.37:g.133499056G>A							p.Q311Q	NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000279)	11	1008	+			311			KH 3.		A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	ENST00000319725.9	37	c.933G>A	CCDS43893.1																																																																																				0.547	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054666.1			5	456	0	0	0	1	0	5	456					A	133499056	G	A	133499056	2	1	106	1	0	0	0	0	0	0	0	1	6120	962	34	2		2	FUBP3	9	133499056	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	6409389	133499056	7714375	72	35820											
PAPSS2	9060	broad.mit.edu	37	chr10	89503202	89503202	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgatgcaggacactcgccGcaggctcctagagaggggct	15	11	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:89503202G>A	ENST00000361175.4	+	10	1649	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H|PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	427					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)		GACACTCGCCGCAGGCTCCTA	0.582																																						ENST00000361175.4																			0				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						c.(1279-1281)cGc>cAc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							108	104	106					10																	89503202		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89503202G>A	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.1280G>A	10.37:g.89503202G>A	ENSP00000354436:p.Arg427His					PAPSS2_ENST00000456849.1_Missense_Mutation_p.R432H|PAPSS2_ENST00000427144.2_Missense_Mutation_p.R431H	p.R427H	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	10	1649	+		Melanoma(5;0.019)|Colorectal(252;0.123)	427					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1280G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333777	0.81801	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.31247	1.5;1.5;1.5	5.33	3.49	0.39957	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.094954	0.85682	D	0.000000	T	0.52517	0.1739	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.79784	0.938;0.993	T	0.53194	-0.8473	10	0.52906	T	0.07	-19.4179	11.5618	0.50780	0.1428:0.0:0.8572:0.0	.	427;432	O95340;O95340-2	PAPS2_HUMAN;.	H	427;432;431;431	ENSP00000354436:R427H;ENSP00000406157:R432H;ENSP00000397123:R431H	ENSP00000354436:R427H	R	+	2	0	PAPSS2	89493182	1.000000	0.71417	0.027000	0.17364	0.993000	0.82548	9.257000	0.95545	0.826000	0.34661	0.561000	0.74099	CGC		0.582	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			5	474	0	0	0	1	0	5	474					A	89503202	G	A	89503202	3	1	106	1	0	0	0	0	1	0	0	0	11477	1087	38	1	1337	1	PAPSS2	10	89503202	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		89503202	46031545	73	35821											
KIF20B	9585	broad.mit.edu	37	chr10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-													gaaacatttacttcaattaaAagaagaagaagaagaaacca					rs149688226	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:91498335_91498337delAAG	ENST00000371728.3	+	20	3802_3804	c.3737_3739delAAG	c.(3736-3741)aaagaa>aaa	p.E1251del	KIF20B_ENST00000416354.1_In_Frame_Del_p.E1281del|KIF20B_ENST00000394289.2_In_Frame_Del_p.E1251del|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.E1211del	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1251	Poly-Glu.				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						CTTCAATTAAAAGAAGAAGAAGA	0.276														65	0.0129792	0.0454	0.0	5008	,	,		19361	0.001		0.0	False		,,,				2504	0.0041					ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(3826-3831)aaa>a		kinesin family member 20B																																				SO:0001651	inframe_deletion	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91498335_91498337delAAG	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.3737_3739delAAG	10.37:g.91498344_91498346delAAG	ENSP00000360793:p.Glu1251del					KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del	p.KE1276del			Q96Q89	KI20B_HUMAN			20	3899_3901	+			1246					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	In_Frame_Del	DEL	ENST00000371728.3	37	c.3827_3829delAAG																																																																																					0.276	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		7	225						7	225	---	---	---	---	-	91498337	AAG	-	91498335	7	5	106	1	0	1	0	1	0	0	0	0	8317	14	1	0	3691	0	KIF20B	10	91498335	In_Frame_Del	DEL	AAG	TCGA-Q3-A5QY-01A-12D-A32N-08	1995133	91498335	44036412	74	35822											
PDZD7	79955	broad.mit.edu	37	chr10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-													cgatgaggctcggattccgcGggggggcccgttcagcagcc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000224807.5_5'Flank|SFXN3_ENST00000393459.1_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		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)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	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						c.(166-168)gcfs		PDZ domain containing 7							49	58	55					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	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.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		10	714						10	714	---	---	---	---	-	102789811	G	-	102789811	7	5	106	1	0	1	0	1	0	0	0	0	11746	1116	39	0	1423	0	PDZD7	10	102789811	Frame_Shift_Del	DEL	G	TCGA-Q3-A5QY-01A-12D-A32N-08	11291476	102789811	32744936	75	35823											
DUSP8	1850	broad.mit.edu	37	chr11	1586979	1586979	+	Frame_Shift_Del	DEL	C	C	-													cggctgtcgatgaccagcggCcccccaggcccgccccgcag					rs200012979		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:1586979delC	ENST00000397374.3	-	2	205	c.78delG	c.(76-78)gggfs	p.G26fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G26fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	26	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TGACCAGCGGCCCCCCAGGCC	0.667																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(76-78)ggfs		dual specificity phosphatase 8							51	61	57					11																	1586979		2189	4277	6466	SO:0001589	frameshift_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1586979delC		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3074	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "H1 phosphatase, vaccinia virus homolog"	602038	"chromosome 11 open reading frame 81"	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.78delG	11.37:g.1586979delC	ENSP00000380530:p.Gly26fs					DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G26fs	p.G26fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	2	205	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	26			Rhodanese.		Q86SS8	Frame_Shift_Del	DEL	ENST00000397374.3	37	c.78delG	CCDS7724.1																																																																																				0.667	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		7	1187						7	1187	---	---	---	---	-	1586979	C	-	1586979	7	5	106	1	0	1	0	1	0	0	0	0	4847	726	26	0	1823	0	DUSP8	11	1586979	Frame_Shift_Del	DEL	C	TCGA-Q3-A5QY-01A-12D-A32N-08		1586979	133419537	76	35824											
FAM111B	374393	broad.mit.edu	37	chr11	58892674	58892674	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacaagttagacggaggccGcatctgggtaggcggtatgc	15	9	2	1	rs371989300		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:58892674G>A	ENST00000343597.3	+	4	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	368							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GACGGAGGCCGCATCTGGGTA	0.383																																						ENST00000343597.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(1102-1104)ccG>ccA		family with sequence similarity 111, member B		G	,,	1,4401	2.1+/-5.4	0,1,2200	68	75	73		1014,1014,1104	-0.8	0	11		73	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	338/705,338/705,368/735	58892674	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	374393						catalytic activity	g.chr11:58892674G>A	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1104G>A	11.37:g.58892674G>A						FAM111B_ENST00000529618.1_Silent_p.P338P|FAM111B_ENST00000411426.1_Silent_p.P338P	p.P368P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	1295	+			368					B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	c.1104G>A	CCDS7972.1																																																																																				0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		5	584	0	0	0	1	0	5	584					A	58892674	G	A	58892674	2	1	106	1	0	0	0	0	0	0	0	1	5421	1074	38	1		1	FAM111B	11	58892674	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	57305695	58892674	76113842	77	35825											
CD6	923	broad.mit.edu	37	chr11	60778547	60778547	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctttctgacagcttccCggagtttgcacaatctgtcc	10	12	2	1	rs145393446		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:60778547C>A	ENST00000313421.7	+	6	1276	c.1090C>A	c.(1090-1092)Cgg>Agg	p.R364R	CD6_ENST00000452451.2_Silent_p.R364R|CD6_ENST00000352009.5_Silent_p.R364R|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.R364R|CD6_ENST00000344028.5_Silent_p.R364R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	364					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						GACAGCTTCCCGGAGTTTGCA	0.512																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1090-1092)Cgg>Agg		CD6 molecule							189	146	161					11																	60778547		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60778547C>A		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.1090C>A	11.37:g.60778547C>A						CD6_ENST00000452451.2_Silent_p.R364R|CD6_ENST00000352009.5_Silent_p.R364R|CD6_ENST00000346437.4_Silent_p.R364R|CD6_ENST00000344028.5_Silent_p.R364R|CD6_ENST00000545105.1_3'UTR	p.R364R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			6	1276	+			364					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1090C>A	CCDS7999.1																																																																																				0.512	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		6	317	1	0	0.0215528	1	0.0222193	6	317					A	60778547	C	A	60778547	2	1	106	1	0	0	0	0	0	0	0	1	3037	643	23	3		3	CD6	11	60778547	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	1885873	60778547	74227969	78	35826											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					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						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	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.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		10	630						10	630	---	---	---	---	A	63149669	-	A	63149668	7	5	106	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	2371121	63149668	71856848	79	35827											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	14	15	1	0	rs147615662	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104	104	104		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		7	738	0	0	0	1	0	7	738					T	65618619	C	T	65618619	3	4	106	1	0	0	0	0	1	0	0	0	14952	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	2468951	65618619	69387897	80	35828											
C11orf51	25906	broad.mit.edu	37	chr11	71821263	71821263	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcttcttcctcgtcAtcatagtgctggtgggcagg	10	12	5	0	rs199779840		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:71821263A>T	ENST00000227618.4	-	5	414	c.189T>A	c.(187-189)gaT>gaA	p.D63E	LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000545680.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543015.1_5'UTR|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000543587.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000535503.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000535234.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543050.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000538393.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000502597.2_5'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000542531.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000545944.1_Missense_Mutation_p.D63E	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	63	Asp-rich.				mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											cttcctcgtcatcatAGTGCT	0.498													a|||	1	0.000199681	0.0008	0.0	5008	,	,		22333	0.0		0.0	False		,,,				2504	0.0					ENST00000227618.4																			0											c.(187-189)gaT>gaA		anaphase promoting complex subunit 15							296	261	273					11																	71821263		2200	4293	6493	SO:0001583	missense	25906							g.chr11:71821263A>T	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.189T>A	11.37:g.71821263A>T	ENSP00000227618:p.Asp63Glu					LRTOMT_ENST00000307198.7_3'UTR|ANAPC15_ENST00000543050.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000542531.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000538393.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543587.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000502597.2_5'UTR|LRTOMT_ENST00000435085.1_3'UTR|ANAPC15_ENST00000535503.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000535234.1_Missense_Mutation_p.D63E|LRTOMT_ENST00000419228.1_3'UTR|ANAPC15_ENST00000538919.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000545944.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000545680.1_Missense_Mutation_p.D63E|ANAPC15_ENST00000543015.1_5'UTR	p.D63E	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1					5	414	-								G3V1Q3|Q9CXK2|Q9Y269	Missense_Mutation	SNP	ENST00000227618.4	37	c.189T>A	CCDS8210.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	16.10	3.027648	0.54790	.	.	ENSG00000110200	ENST00000543050;ENST00000543587;ENST00000545680;ENST00000227618;ENST00000542531;ENST00000535234;ENST00000545944;ENST00000538393;ENST00000535503;ENST00000538919;ENST00000537644;ENST00000438939;ENST00000545333	T	0.69306	-0.39	4.29	-0.833	0.10782	.	0.221810	0.37483	N	0.002078	T	0.45677	0.1354	N	0.21097	0.63	0.35781	D	0.821626	P;B;B	0.41393	0.748;0.0;0.008	B;B;B	0.38562	0.276;0.001;0.013	T	0.46359	-0.9197	10	0.35671	T	0.21	.	8.6231	0.33872	0.6819:0.0:0.3181:0.0	.	63;63;63	G5EA39;P60006;G3V1Q3	.;CK051_HUMAN;.	E	63;63;63;63;63;63;63;63;63;63;75;75;63	ENSP00000437360:D63E	ENSP00000227618:D63E	D	-	3	2	C11orf51	71498911	0.861000	0.29849	0.995000	0.50966	0.914000	0.54420	0.011000	0.13264	-0.253000	0.09514	0.456000	0.33151	GAT		0.498	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042		7	914	0	0	0	1	0	7	914					T	71821263	A	T	71821263	3	4	106	1	0	0	0	0	1	0	0	0	1651	214	8	5	184	5	C11orf51	11	71821263	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	6202644	71821263	63185253	81	35829											
RELT	84957	broad.mit.edu	37	chr11	73105561	73105561	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgccacacatctgcccGcaccgccaccatctccacac	5	21	2	0	rs373736645	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:73105561G>A	ENST00000064780.2	+	9	1089	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RELT_ENST00000393580.2_Silent_p.P276P|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	276						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ACATCTGCCCGCACCGCCACC	0.706																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(826-828)ccG>ccA		RELT tumor necrosis factor receptor							58	64	62					11																	73105561		2199	4292	6491	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73105561G>A	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.828G>A	11.37:g.73105561G>A						RELT_ENST00000393580.2_Silent_p.P276P	p.P276P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			9	1089	+			276					Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.828G>A	CCDS8222.1																																																																																				0.706	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		8	779	0	0	0	1	0	8	779					A	73105561	G	A	73105561	2	1	106	1	0	0	0	0	0	0	0	1	13271	1074	38	1		1	RELT	11	73105561	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1284298	73105561	61900955	82	35830											
HEPHL1	341208	broad.mit.edu	37	chr11	93800764	93800764	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatgaaatagacatccAttctatctatttctatggta	8	6	3	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:93800764A>G	ENST00000315765.9	+	5	919	c.911A>G	c.(910-912)cAt>cGt	p.H304R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	304	Plastocyanin-like 2.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATAGACATCCATTCTATCTAT	0.463																																						ENST00000315765.9																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61						c.(910-912)cAt>cGt		hephaestin-like 1							178	178	178					11																	93800764		1953	4138	6091	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93800764A>G	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.911A>G	11.37:g.93800764A>G	ENSP00000313699:p.His304Arg						p.H304R	NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN			5	919	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	304			Plastocyanin-like 2.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.911A>G	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.413281	0.83449	.	.	ENSG00000181333	ENST00000315765	D	0.99824	-6.96	5.36	5.36	0.76844	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.93978	3.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96432	0.9320	10	0.87932	D	0	.	15.6458	0.77049	1.0:0.0:0.0:0.0	.	304	Q6MZM0	HPHL1_HUMAN	R	304	ENSP00000313699:H304R	ENSP00000313699:H304R	H	+	2	0	HEPHL1	93440412	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.991000	0.93514	2.158000	0.67659	0.459000	0.35465	CAT		0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947		12	791	0	0	0	1	0	12	791					G	93800764	A	G	93800764	3	3	106	1	0	0	0	0	1	0	0	0	7085	217	8	4	929	4	HEPHL1	11	93800764	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	20695203	93800764	41205752	83	35831											
PKNOX2	63876	broad.mit.edu	37	chr11	125280125	125280125	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attcccccaattccatgtccGgagtctccaataacccccag	5	17	1	0	rs572689602		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr11:125280125G>A	ENST00000298282.9	+	8	893	c.622G>A	c.(622-624)Gga>Aga	p.G208R	PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	208					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)	p.G208R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTCCATGTCCGGAGTCTCCAA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		15553	0.0		0.0	False		,,,				2504	0.001					ENST00000298282.9																			1	Substitution - Missense(1)	p.G208R(1)	upper_aerodigestive_tract(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(622-624)Gga>Aga		PBX/knotted 1 homeobox 2							124	129	127					11																	125280125		2066	4220	6286	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125280125G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.622G>A	11.37:g.125280125G>A	ENSP00000298282:p.Gly208Arg					PKNOX2_ENST00000542175.1_Missense_Mutation_p.G144R|PKNOX2_ENST00000530517.1_3'UTR	p.G208R	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	8	893	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	208					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.622G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437618	0.62955	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	D;D;D;D	0.84516	-1.86;-1.86;-1.85;-1.85	5.62	5.62	0.85841	.	0.092956	0.44902	D	0.000403	T	0.78616	0.4311	L	0.32530	0.975	0.48452	D	0.999655	P;B	0.34757	0.467;0.355	B;B	0.28011	0.085;0.036	T	0.76329	-0.2999	10	0.30854	T	0.27	-6.3419	19.2564	0.93947	0.0:0.0:1.0:0.0	.	144;208	F5GZ15;Q96KN3	.;PKNX2_HUMAN	R	179;179;208;144;196	ENSP00000434732:G179R;ENSP00000433971:G179R;ENSP00000298282:G208R;ENSP00000441470:G144R	ENSP00000298282:G208R	G	+	1	0	PKNOX2	124785335	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	2.633000	0.89246	0.655000	0.94253	GGA		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			6	880	0	0	0	1	0	6	880					A	125280125	G	A	125280125	3	1	106	1	0	0	0	0	1	0	0	0	12025	1117	39	1	640	1	PKNOX2	11	125280125	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	31479361	125280125	9726391	84	35832											
LRTM2	654429	broad.mit.edu	37	chr12	1943759	1943759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcatcatgatggtggtggccGctgcctatggctgcatctac	13	11	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:1943759G>A	ENST00000543818.1	+	5	1827	c.985G>A	c.(985-987)Gct>Act	p.A329T	CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T|CACNA2D4_ENST00000586184.1_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	329						integral component of membrane (GO:0016021)		p.A329T(1)		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)			GGTGGTGGCCGCTGCCTATGG	0.662																																						ENST00000543818.1																			1	Substitution - Missense(1)	p.A329T(1)	endometrium(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(985-987)Gct>Act		leucine-rich repeats and transmembrane domains 2							47	43	44					12																	1943759		2193	4271	6464	SO:0001583	missense	0					integral to membrane		g.chr12:1943759G>A	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.985G>A	12.37:g.1943759G>A	ENSP00000446278:p.Ala329Thr					LRTM2_ENST00000299194.1_Missense_Mutation_p.A329T|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A329T	p.A329T	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1827	+	Ovarian(42;0.107)		329					A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.985G>A	CCDS31726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.309844|3.309844	0.60414|0.60414	.|.	.|.	ENSG00000166159|ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041|ENST00000424079	T;T;T|.	0.59502|.	0.26;0.26;0.26|.	5.44|5.44	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71626|0.71626	0.3362|0.3362	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.68765|.	0.96|.	T|T	0.75010|0.75010	-0.3468|-0.3468	10|6	0.87932|0.87932	D|D	0|0	.|.	14.1474|14.1474	0.65360|0.65360	0.072:0.0:0.928:0.0|0.072:0.0:0.928:0.0	.|.	329|.	Q8N967|.	LRTM2_HUMAN|.	T|H	329|85	ENSP00000446278:A329T;ENSP00000299194:A329T;ENSP00000444737:A329T|.	ENSP00000299194:A329T|ENSP00000394967:R85H	A|R	+|+	1|2	0|0	LRTM2|LRTM2	1814020|1814020	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.010000|0.010000	0.07245|0.07245	9.869000|9.869000	0.99810|0.99810	1.302000|1.302000	0.44855|0.44855	-0.136000|-0.136000	0.14681|0.14681	GCT|CGC		0.662	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			5	373	0	0	0	1	0	5	373					A	1943759	G	A	1943759	3	1	106	1	0	0	0	0	1	0	0	0	9083	1087	38	1	995	1	LRTM2	12	1943759	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		1943759	131908136	85	35833											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000399433.2_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	14	85						14	85	---	---	---	---	C	7080213	-	C	7080212	8	5	106	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	5136453	7080212	126771683	86	35834											
C12orf51	283450	broad.mit.edu	37	chr12	112600860	112600860	+	Frame_Shift_Del	DEL	G	G	-													cggtacctgctgtgccatctGggggggcgatcttcatgggg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr12:112600860delG	ENST00000430131.2	-	74	12985	c.11840delC	c.(11839-11841)ccafs	p.P3947fs	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.P4197fs|HECTD4_ENST00000550722.1_Frame_Shift_Del_p.P4223fs			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3947	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGTGCCATCTGGGGGGGCGAT	0.627																																						ENST00000550722.1																			0											c.(12667-12669)cafs		HECT domain containing E3 ubiquitin protein ligase 4							73	80	78					12																	112600860		2000	4155	6155	SO:0001589	frameshift_variant	283450							g.chr12:112600860delG	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.11840delC	12.37:g.112600860delG	ENSP00000404379:p.Pro3947fs					HECTD4_ENST00000430131.2_Frame_Shift_Del_p.P3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Del_p.P4197fs	p.P4223fs	NM_001109662.3	NP_001103132.3					75	13063	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Del	DEL	ENST00000430131.2	37	c.12668delC																																																																																					0.627	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	828						7	828	---	---	---	---	-	112600860	G	-	112600860	7	5	106	1	0	1	0	1	0	0	0	0	1701	1348	47	0	158	0	C12orf51	12	112600860	Frame_Shift_Del	DEL	G	TCGA-Q3-A5QY-01A-12D-A32N-08	105520648	112600860	21251035	87	35835											
WASF3	10810	broad.mit.edu	37	chr13	27255386	27255387	+	Frame_Shift_Ins	INS	-	-	C													tcaacagacctcagcagccgINSccccccccgcctccccctca					rs529756888|rs141429361	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr13:27255386_27255387insC	ENST00000335327.5	+	8	1090_1091	c.912_913insC	c.(913-915)cccfs	p.P305fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P302fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	305	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)		CTCAGCAGCCGCCCCCCCCGCC	0.678																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(901-906)ccccccfs		WAS protein family, member 3				82,4062		3,76,1993						-6.7	0.1			31	128,8010		7,114,3948	no	frameshift	WASF3	NM_006646.5		10,190,5941	A1A1,A1R,RR		1.5729,1.9788,1.7098				210,12072				SO:0001589	frameshift_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255386_27255387insC	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.920dupC	13.37:g.27255394_27255394dupC	ENSP00000335055:p.Pro305fs					WASF3_ENST00000335327.5_Frame_Shift_Ins_p.PP304fs	p.PP301fs			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1128_1129	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	304					O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	c.903_904insC	CCDS9318.1																																																																																				0.678	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			7	495						7	495	---	---	---	---	C	27255387	-	C	27255386	7	5	106	1	0	1	1	0	0	0	0	0	17308	1074	38	0	934	0	WASF3	13	27255386	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08		27255386	87914492	88	35836											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		10	594						10	594	---	---	---	---	T	60582734	-	T	60582733	7	5	106	1	0	1	1	0	0	0	0	0	4536	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	33327347	60582733	54587145	89	35837											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	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																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	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					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		11	171						11	171	---	---	---	---	-	74205928	CTG	-	74205926	7	5	106	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-Q3-A5QY-01A-12D-A32N-08		74205926	33143614	90	35838											
HERC2	8924	broad.mit.edu	37	chr15	28377973	28377973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgacacgagggcggtcacaCggactgcaaaaaagtcacca	11	11	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:28377973C>T	ENST00000261609.7	-	80	12342	c.12234G>A	c.(12232-12234)ccG>ccA	p.P4078P		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)		GGCGGTCACACGGACTGCAAA	0.463																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12232-12234)ccG>ccA		HECT and RLD domain containing E3 ubiquitin protein ligase 2							64	70	68					15																	28377973		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28377973C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12234G>A	15.37:g.28377973C>T							p.P4078P	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	80	12342	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4078						Silent	SNP	ENST00000261609.7	37	c.12234G>A	CCDS10021.1																																																																																				0.463	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	569	0	0	0	1	0	5	569					T	28377973	C	T	28377973	2	4	106	1	0	0	0	0	0	0	0	1	7088	523	19	1		1	HERC2	15	28377973	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		28377973	74153419	91	35839											
AVEN	57099	broad.mit.edu	37	chr15	34163233	34163234	+	Splice_Site	DEL	TA	TA	-													ccacataaaatgctgaattcTatatatatatataaaagaaa							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:34163233_34163234delTA	ENST00000306730.3	-	4	646		c.e4-2		AVEN_ENST00000558136.1_Splice_Site	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		TGCTGAATTCtatatatatata	0.371																																						ENST00000306730.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7						c.e4-2		apoptosis, caspase activation inhibitor																																				SO:0001630	splice_region_variant	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34163233_34163234delTA	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"cell death regulator aven", "programmed cell death 12"	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.517-2TA>-	15.37:g.34163243_34163244delTA						AVEN_ENST00000558136.1_Splice_Site		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	4	646	-		all_lung(180;1.78e-08)							Splice_Site	DEL	ENST00000306730.3	37		CCDS10030.1																																																																																				0.371	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371	Intron	8	104						8	104	---	---	---	---	-	34163234	TA	-	34163233	8	5	106	1	0	1	0	1	0	0	1	0	1227	1536	53	0	585	0	AVEN	15	34163233	Splice_Site	DEL	TA	TCGA-Q3-A5QY-01A-12D-A32N-08	5785260	34163233	68368159	92	35840											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		7	940						7	940	---	---	---	---	-	34393993	AGC	-	34393991	7	5	106	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-Q3-A5QY-01A-12D-A32N-08	230758	34393991	68137401	93	35841											
TMCO5A	145942	broad.mit.edu	37	chr15	38234406	38234406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagtaccaggaaacGttgaagaaaatagaagaaga	11	3	0	7			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:38234406G>T	ENST00000319669.4	+	8	621	c.519G>T	c.(517-519)acG>acT	p.T173T	TMCO5A_ENST00000558158.1_Silent_p.T173T|TMCO5A_ENST00000540944.1_Silent_p.T173T|TMCO5A_ENST00000559502.1_Silent_p.T173T	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	173						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ACCAGGAAACGTTGAAGAAAA	0.373																																						ENST00000558158.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(517-519)acG>acT		transmembrane and coiled-coil domains 5A							172	179	177					15																	38234406		2200	4297	6497	SO:0001819	synonymous_variant	145942					integral to membrane		g.chr15:38234406G>T	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.519G>T	15.37:g.38234406G>T						TMCO5A_ENST00000559502.1_Silent_p.T173T|TMCO5A_ENST00000319669.4_Silent_p.T173T|TMCO5A_ENST00000540944.1_Silent_p.T173T	p.T173T			Q8N6Q1	TMC5A_HUMAN			9	673	+			173					Q8NA63	Silent	SNP	ENST00000319669.4	37	c.519G>T	CCDS10046.1																																																																																				0.373	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		5	729	1	0	0.000602214	1	0.00063391	5	729					T	38234406	G	T	38234406	2	4	106	1	0	0	0	0	0	0	0	1	16051	1132	40	3		3	TMCO5A	15	38234406	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	3840415	38234406	64296986	94	35842											
C15orf54	400360	broad.mit.edu	37	chr15	39544396	39544396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccccagagggctgagccGcaaagaatttgcagagcctt	12	11	0	5			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						ENST00000318578.3																			1	Substitution - coding silent(1)	p.P20P(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(58-60)ccG>ccA		chromosome 15 open reading frame 54							200	201	200					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544396G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A						RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA	p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20					B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																				0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		7	1132	0	0	0	1	0	7	1132					A	39544396	G	A	39544396	2	1	106	1	0	0	0	0	0	0	0	1	1807	1074	38	1		1	C15orf54	15	39544396	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1309990	39544396	62986996	95	35843											
FAM82A2	55177	broad.mit.edu	37	chr15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T													ttcaagcaaggctgtagcagINStttttttttctagccagctc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					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)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	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.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.45	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		7	364						7	364	---	---	---	---	T	41029894	-	T	41029893	7	5	106	1	0	1	1	0	0	0	0	0	5656	1029	36	0	271	0	FAM82A2	15	41029893	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	1485497	41029893	61501499	96	35844											
TGM5	9333	broad.mit.edu	37	chr15	43552730	43552730	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatctcctccgtgtggtgccGcacattatttctggagctct	10	12	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:43552730G>A	ENST00000220420.5	-	2	65	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	20					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)	GTGTGGTGCCGCACATTATTT	0.587																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(58-60)Cgg>Tgg		transglutaminase 5	L-Glutamine(DB00130)						110	113	112					15																	43552730		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552730G>A	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.58C>T	15.37:g.43552730G>A	ENSP00000220420:p.Arg20Trp					TGM5_ENST00000349114.4_Missense_Mutation_p.R20W	p.R20W	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	65	-		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)	20					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.58C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741549	0.30865	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.85088	-1.94;-1.94	5.64	1.55	0.23275	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.143940	0.06194	N	0.681888	T	0.81616	0.4860	L	0.40543	1.245	0.09310	N	1	D;P	0.56287	0.975;0.903	B;P	0.47827	0.253;0.558	T	0.68070	-0.5506	10	0.72032	D	0.01	-1.8221	3.7194	0.08450	0.0758:0.2681:0.3804:0.2758	.	20;20	O43548-2;O43548	.;TGM5_HUMAN	W	20;20;19	ENSP00000220420:R20W;ENSP00000220419:R20W	ENSP00000220420:R20W	R	-	1	2	TGM5	41340022	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.060000	0.14342	0.040000	0.15660	0.555000	0.69702	CGG		0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		6	699	0	0	0	1	0	6	699					A	43552730	G	A	43552730	3	1	106	1	0	0	0	0	1	0	0	0	15885	1086	38	1	2152	1	TGM5	15	43552730	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2522837	43552730	58978662	97	35845											
CA12	771	broad.mit.edu	37	chr15	63632565	63632565	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagggggtgtggtcagggaCccccggtagcggtaatattc	16	9	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:63632565C>A	ENST00000178638.3	-	7	1109	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CA12_ENST00000422263.2_Silent_p.G163G|CA12_ENST00000344366.3_Silent_p.G223G	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	223					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	TGGTCAGGGACCCCCGGTAGC	0.562																																						ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(667-669)ggG>ggT		carbonic anhydrase XII	Acetazolamide(DB00819)						77	73	75					15																	63632565		2203	4300	6503	SO:0001819	synonymous_variant	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63632565C>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"Carbonic anhydrases"	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.669G>T	15.37:g.63632565C>A						CA12_ENST00000422263.2_Silent_p.G163G|CA12_ENST00000344366.3_Silent_p.G223G	p.G223G	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			7	1109	-			223					B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	c.669G>T	CCDS10185.1																																																																																				0.562	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		7	344	1	0	8.12818e-05	1	8.69325e-05	7	344					A	63632565	C	A	63632565	2	1	106	1	0	0	0	0	0	0	0	1	2520	494	18	3		3	CA12	15	63632565	Silent	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	20079835	63632565	38898827	98	35846											
THSD4	79875	broad.mit.edu	37	chr15	72021022	72021022	+	Frame_Shift_Del	DEL	T	T	-													cgagcactgccggagagtccTttttggcggaaggtcccacc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:72021022delT	ENST00000355327.3	+	9	1626	c.1492delT	c.(1492-1494)tttfs	p.F498fs	THSD4_ENST00000261862.6_Frame_Shift_Del_p.F498fs|THSD4_ENST00000357769.4_Frame_Shift_Del_p.F138fs|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	498					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						CGGAGAGTCCTTTTTGGCGGA	0.483																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1492-1494)ttfs		thrombospondin, type I, domain containing 4							218	203	208					15																	72021022		1948	4127	6075	SO:0001589	frameshift_variant	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72021022delT	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.1492delT	15.37:g.72021022delT	ENSP00000347484:p.Phe498fs					THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Frame_Shift_Del_p.F138fs|THSD4_ENST00000261862.6_Frame_Shift_Del_p.F498fs	p.F498fs			Q6ZMP0	THSD4_HUMAN			9	1626	+			498					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Frame_Shift_Del	DEL	ENST00000355327.3	37	c.1492delT	CCDS10238.2																																																																																				0.483	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		7	1211						7	1211	---	---	---	---	-	72021022	T	-	72021022	7	5	106	1	0	1	0	1	0	0	0	0	15930	1609	56	0	1522	0	THSD4	15	72021022	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	8388457	72021022	30510370	99	35847											
CSPG4	1464	broad.mit.edu	37	chr15	75982078	75982078	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccactcaagccaggctgtgCccccctcggccaccaccagt	8	20	1	0	rs138382756		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr15:75982078C>T	ENST00000308508.5	-	3	1420	c.1328G>A	c.(1327-1329)gGc>gAc	p.G443D		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	443	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCAGGCTGTGCCCCCCTCGGC	0.642																																						ENST00000308508.5																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(1327-1329)gGc>gAc		chondroitin sulfate proteoglycan 4							46	45	45					15																	75982078		2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982078C>T	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.1328G>A	15.37:g.75982078C>T	ENSP00000312506:p.Gly443Asp						p.G443D	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN			3	1420	-			443			Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.1328G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	23.6	4.433402	0.83776	.	.	ENSG00000173546	ENST00000308508	T	0.32753	1.44	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000003	T	0.58793	0.2147	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62627	-0.6814	10	0.62326	D	0.03	.	17.856	0.88762	0.0:1.0:0.0:0.0	.	443	Q6UVK1	CSPG4_HUMAN	D	443	ENSP00000312506:G443D	ENSP00000312506:G443D	G	-	2	0	CSPG4	73769133	1.000000	0.71417	0.940000	0.37924	0.798000	0.45092	4.677000	0.61634	2.463000	0.83235	0.555000	0.69702	GGC		0.642	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		5	425	0	0	0	1	0	5	425					T	75982078	C	T	75982078	3	4	106	1	0	0	0	0	1	0	0	0	3971	739	26	2	5672	2	CSPG4	15	75982078	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	3961056	75982078	26549314	100	35848											
BTBD12	84464	broad.mit.edu	37	chr16	3658692	3658692	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtagcagtttgtttggtccTtttcaatttgcttcttatct	8	7	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:3658692T>C	ENST00000294008.3	-	2	914	c.274A>G	c.(274-276)Agg>Ggg	p.R92G		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	92	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGTTTGGTCCTTTTCAATTTG	0.468								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(274-276)Agg>Ggg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							171	155	160					16																	3658692		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3658692T>C	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.274A>G	16.37:g.3658692T>C	ENSP00000294008:p.Arg92Gly						p.R92G	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			2	914	-			92			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.274A>G	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708580	0.48517	.	.	ENSG00000188827	ENST00000294008	T	0.01629	4.72	5.3	4.21	0.49690	.	0.184996	0.25786	N	0.028317	T	0.03434	0.0099	L	0.36672	1.1	0.25679	N	0.985811	D	0.59767	0.986	P	0.53954	0.738	T	0.40664	-0.9551	10	0.44086	T	0.13	.	9.5371	0.39229	0.0:0.0854:0.0:0.9146	.	92	Q8IY92	SLX4_HUMAN	G	92	ENSP00000294008:R92G	ENSP00000294008:R92G	R	-	1	2	SLX4	3598693	0.819000	0.29175	0.177000	0.23020	0.750000	0.42670	0.731000	0.26058	0.971000	0.38288	0.533000	0.62120	AGG		0.468	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		5	495	0	0	0	1	0	5	495					C	3658692	T	C	3658692	3	2	106	1	0	0	0	0	1	0	0	0	1544	1608	56	4	5286	4	BTBD12	16	3658692	Missense_Mutation	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08		3658692	86696061	101	35849											
GRIN2A	2903	broad.mit.edu	37	chr16	10274159	10274159	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctgtgacccagcatcaccGcaatatttagcgcgggggga	14	11	1	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:10274159G>A	ENST00000396573.2	-	3	419	c.110C>T	c.(109-111)gCg>gTg	p.A37V	GRIN2A_ENST00000330684.3_Missense_Mutation_p.A37V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A37V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	37					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)	CAGCATCACCGCAATATTTAG	0.692																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(109-111)gCg>gTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						33	38	36					16																	10274159		2196	4296	6492	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274159G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.110C>T	16.37:g.10274159G>A	ENSP00000379818:p.Ala37Val					GRIN2A_ENST00000330684.3_Missense_Mutation_p.A37V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A37V|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A37V	p.A37V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	419	-			37					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.110C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	37	6.015957	0.97205	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.54	4.54	0.55810	.	0.140584	0.45361	N	0.000378	D	0.91439	0.7298	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.85130	0.997;0.87;0.983	D	0.91038	0.4869	9	.	.	.	.	16.2901	0.82747	0.0:0.0:1.0:0.0	.	37;37;37	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	V	37	ENSP00000379818:A37V;ENSP00000385872:A37V;ENSP00000332549:A37V;ENSP00000379820:A37V	.	A	-	2	0	GRIN2A	10181660	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.557000	0.98129	2.088000	0.63022	0.561000	0.74099	GCG		0.692	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			5	409	0	0	0	1	0	5	409					A	10274159	G	A	10274159	3	1	106	1	0	0	0	0	1	0	0	0	6809	1087	38	1	4332	1	GRIN2A	16	10274159	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	6615467	10274159	80080594	102	35850											
FAM18A	780776	broad.mit.edu	37	chr16	10867202	10867203	+	Frame_Shift_Ins	INS	-	-	A													ttcaaggaaaataaggtgctINSaaaaaaaaacacaatccata							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:10867202_10867203insA	ENST00000299866.8	-	5	711_712	c.420_421insT	c.(418-423)tttagcfs	p.S141fs	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	141						integral component of membrane (GO:0016021)											AATAAGGTGCTAAAAAAAAACA	0.446																																						ENST00000299866.8																			0											c.(418-423)ttgcacfs		trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)				2,3608		1,0,1804						4.6	1			74	4,7846		0,4,3921	no	frameshift	FAM18A	NM_001079512.2		1,4,5725	A1A1,A1R,RR		0.051,0.0554,0.0524				6,11454				SO:0001589	frameshift_variant	780776							g.chr16:10867202_10867203insA		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.421dupT	16.37:g.10867211_10867211dupA	ENSP00000299866:p.Ser141fs					TVP23A_ENST00000572980.1_5'UTR	p.LH140fs	NM_001079512.2	NP_001072980.1					5	711_712	-								B2RUV4|B7ZW18	Frame_Shift_Ins	INS	ENST00000299866.8	37	c.420_421insT	CCDS45408.1																																																																																				0.446	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436680.1	NM_001079512		8	322						8	322	---	---	---	---	A	10867203	-	A	10867202	7	5	106	1	0	1	1	0	0	0	0	0	5539	1522	53	0	232	0	FAM18A	16	10867202	Frame_Shift_Ins	INS	-	TCGA-Q3-A5QY-01A-12D-A32N-08	593043	10867202	79487551	103	35851											
MYH11	4629	broad.mit.edu	37	chr16	15865513	15865513	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgggctgctgggatggGcacaaagccattggagagga	16	8	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:15865513G>A	ENST00000300036.5	-	9	1055	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000576790.2_Missense_Mutation_p.P316S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	316	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						GCTGGGATGGGCACAAAGCCA	0.517			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(946-948)Ccc>Tcc		myosin, heavy chain 11, smooth muscle							118	97	104					16																	15865513		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15865513G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.946C>T	16.37:g.15865513G>A	ENSP00000300036:p.Pro316Ser					MYH11_ENST00000452625.2_Missense_Mutation_p.P323S|MYH11_ENST00000396324.3_Missense_Mutation_p.P323S|MYH11_ENST00000300036.5_Missense_Mutation_p.P316S|MYH11_ENST00000576790.1_Missense_Mutation_p.P316S	p.P316S	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			9	1052	-			316			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.946C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854428	0.51376	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.148440	0.47852	D	0.000204	T	0.75642	0.3877	N	0.04335	-0.225	0.52501	D	0.999951	B;B;B;B;B;B	0.10296	0.0;0.001;0.001;0.001;0.001;0.003	B;B;B;B;B;B	0.17098	0.007;0.017;0.017;0.017;0.017;0.017	T	0.69774	-0.5054	10	0.30854	T	0.27	.	17.7989	0.88580	0.0:0.0:1.0:0.0	.	323;316;316;323;316;323	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	S	316;316;323;323;323	ENSP00000300036:P316S;ENSP00000345136:P316S;ENSP00000379616:P323S;ENSP00000407821:P323S	ENSP00000300036:P316S	P	-	1	0	MYH11	15773014	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.491000	0.53252	2.538000	0.85594	0.561000	0.74099	CCC		0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		5	319	0	0	0	1	0	5	319					A	15865513	G	A	15865513	3	1	106	1	0	0	0	0	1	0	0	0	10072	1203	42	2	5139	2	MYH11	16	15865513	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	4998311	15865513	74489240	104	35852											
CX3CL1	6376	broad.mit.edu	37	chr16	57415974	57415974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagcacaggctgttctgtgCcgacccgaaggagcaatggg	14	11	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr16:57415974C>T	ENST00000006053.6	+	3	335	c.224C>T	c.(223-225)gCc>gTc	p.A75V	CX3CL1_ENST00000563383.1_Missense_Mutation_p.A81V|CX3CL1_ENST00000564948.1_Missense_Mutation_p.P35S|CX3CL1_ENST00000565912.1_Missense_Mutation_p.A37V	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	75	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						CTGTTCTGTGCCGACCCGAAG	0.602																																						ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(109-111)gCc>gTc		chemokine (C-X3-C motif) ligand 1							65	65	65					16																	57415974		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57415974C>T	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.224C>T	16.37:g.57415974C>T	ENSP00000006053:p.Ala75Val					CX3CL1_ENST00000006053.6_Missense_Mutation_p.A75V|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A81V|CX3CL1_ENST00000564948.1_Missense_Mutation_p.P35S	p.A37V			P78423	X3CL1_HUMAN			2	2816	+			75			Chemokine.		O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.110C>T	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392360	0.62066	.	.	ENSG00000006210	ENST00000006053	T	0.05580	3.42	5.45	5.45	0.79879	Chemokine interleukin-8-like domain (3);	0.000000	0.64402	D	0.000012	T	0.27169	0.0666	M	0.81682	2.555	0.41670	D	0.989234	D	0.89917	1.0	D	0.91635	0.999	T	0.00992	-1.1488	10	0.87932	D	0	-33.9119	14.8416	0.70230	0.0:1.0:0.0:0.0	.	75	P78423	X3CL1_HUMAN	V	75	ENSP00000006053:A75V	ENSP00000006053:A75V	A	+	2	0	CX3CL1	55973475	0.995000	0.38212	0.953000	0.39169	0.012000	0.07955	3.478000	0.53158	2.560000	0.86352	0.555000	0.69702	GCC		0.602	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		5	402	0	0	0	1	0	5	402					T	57415974	C	T	57415974	3	4	106	1	0	0	0	0	1	0	0	0	4085	739	26	2	234	2	CX3CL1	16	57415974	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	41550461	57415974	32938779	105	35853											
BCL6B	255877	broad.mit.edu	37	chr17	6927858	6927858	+	Frame_Shift_Del	DEL	C	C	-													tctcgaagctgcagtcaaggCccccccagtccagccagccc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:6927858delC	ENST00000293805.5	+	4	632	c.540delC	c.(538-540)ggcfs	p.G180fs	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	180	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S183fs*6(1)		skin(1)	1						GCAGTCAAGGCCCCCCCAGTC	0.617																																						ENST00000293805.5																			1	Insertion - Frameshift(1)	p.S183fs*6(1)	lung(1)	skin(1)	1						c.(538-540)ggfs		B-cell CLL/lymphoma 6, member B							90	108	103					17																	6927858		1948	4151	6099	SO:0001589	frameshift_variant	255877					nucleus	zinc ion binding	g.chr17:6927858delC	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1002	protein-coding gene	gene with protein product		608992	"zinc finger protein 62", "B-cell CLL/lymphoma 6, member B (zinc finger protein)"	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.540delC	17.37:g.6927858delC	ENSP00000293805:p.Gly180fs					BCL6B_ENST00000572216.1_3'UTR	p.G180fs	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			4	632	+			180			Pro-rich.		Q6PCB4	Frame_Shift_Del	DEL	ENST00000293805.5	37	c.540delC	CCDS42248.1																																																																																				0.617	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		8	1030						8	1030	---	---	---	---	-	6927858	C	-	6927858	7	5	106	1	0	1	0	1	0	0	0	0	1378	726	26	0	550	0	BCL6B	17	6927858	Frame_Shift_Del	DEL	C	TCGA-Q3-A5QY-01A-12D-A32N-08		6927858	74267352	106	35854											
PER1	5187	broad.mit.edu	37	chr17	8049759	8049761	+	In_Frame_Del	DEL	AGG	AGG	-													agaggctgaggaggtggtatAggaggaggaggaggcacatt							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:8049759_8049761delAGG	ENST00000317276.4	-	16	2204_2206	c.1967_1969delCCT	c.(1966-1971)tcctat>tat	p.S656del	PER1_ENST00000354903.5_In_Frame_Del_p.S640del|PER1_ENST00000581082.1_In_Frame_Del_p.S636del|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	656	Poly-Ser.|Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGGTGGTATAGGAGGAGGAGGA	0.586			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"AML, CMML"		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1966-1971)tat>t	Other conserved DNA damage response genes	period circadian clock 1																																				SO:0001651	inframe_deletion	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8049759_8049761delAGG	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1967_1969delCCT	17.37:g.8049768_8049770delAGG	ENSP00000314420:p.Ser656del					PER1_ENST00000354903.5_In_Frame_Del_p.SY640del|PER1_ENST00000581082.1_In_Frame_Del_p.SY636del|PER1_ENST00000578089.1_5'UTR	p.SY656del	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			16	2204_2206	-			656			CSNK1E binding domain (By similarity).|Poly-Ser.		B2RPA8|B4DI49|D3DTR3	In_Frame_Del	DEL	ENST00000317276.4	37	c.1967_1969delCCT	CCDS11131.1																																																																																				0.586	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			7	476						7	476	---	---	---	---	-	8049761	AGG	-	8049759	7	5	106	1	0	1	0	1	0	0	0	0	11771	420	15	0	1935	0	PER1	17	8049759	In_Frame_Del	DEL	AGG	TCGA-Q3-A5QY-01A-12D-A32N-08	1121901	8049759	73145451	107	35855											
MED1	5469	broad.mit.edu	37	chr17	37564496	37564496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcacccccatctggccGtccagtgggtcttcaccccc	9	19	4	0	rs569240327		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:37564496G>A	ENST00000300651.6	-	17	4201	c.3978C>T	c.(3976-3978)gaC>gaT	p.D1326D	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCATCTGGCCGTCCAGTGGGT	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3976-3978)gaC>gaT		mediator complex subunit 1							85	93	90					17																	37564496		2203	4299	6502	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564496G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3978C>T	17.37:g.37564496G>A		HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.D1326D	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4201	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1326			Interaction with TP53.|Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.3978C>T	CCDS11336.1																																																																																				0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		6	604	0	0	0	1	0	6	604					A	37564496	G	A	37564496	2	1	106	1	0	0	0	0	0	0	0	1	9466	1136	40	1		1	MED1	17	37564496	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	29514737	37564496	43630714	108	35856											
CALCOCO2	10241	broad.mit.edu	37	chr17	46926637	46926637	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtggaagagattgagcaGcacaacaaggagctttgcaa	14	6	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:46926637G>A	ENST00000258947.3	+	5	542	c.441G>A	c.(439-441)caG>caA	p.Q147Q	CALCOCO2_ENST00000448105.2_Silent_p.Q171Q|CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000509507.1_Silent_p.Q168Q|CALCOCO2_ENST00000416445.2_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	147					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGATTGAGCAGCACAACAAGG	0.468																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(439-441)caG>caA		calcium binding and coiled-coil domain 2							128	128	128					17																	46926637		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46926637G>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.441G>A	17.37:g.46926637G>A						CALCOCO2_ENST00000509507.1_Silent_p.Q168Q|CALCOCO2_ENST00000508679.1_Silent_p.Q75Q|CALCOCO2_ENST00000448105.2_Silent_p.Q171Q|CALCOCO2_ENST00000416445.2_Intron	p.Q147Q	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			5	542	+			147					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.441G>A	CCDS11538.1																																																																																				0.468	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		7	565	0	0	0	1	0	7	565					A	46926637	G	A	46926637	2	1	106	1	0	0	0	0	0	0	0	1	2585	962	34	2		2	CALCOCO2	17	46926637	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9362141	46926637	34268573	109	35857											
LLGL2	3993	broad.mit.edu	37	chr17	73567098	73567098	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagctggcgcctgtgcagcGcaagatcgaggctcgctcgg	17	12	0	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr17:73567098G>A	ENST00000392550.3	+	17	2210	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H	LLGL2_ENST00000167462.5_Missense_Mutation_p.R698H|LLGL2_ENST00000577200.1_Missense_Mutation_p.R698H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	698					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGTGCAGCGCAAGATCGAG	0.642																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2092-2094)cGc>cAc		lethal giant larvae homolog 2 (Drosophila)							67	74	71					17																	73567098		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567098G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2093G>A	17.37:g.73567098G>A	ENSP00000376333:p.Arg698His					LLGL2_ENST00000167462.5_Missense_Mutation_p.R698H|LLGL2_ENST00000577200.1_Missense_Mutation_p.R698H	p.R698H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		17	2210	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		698					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2093G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846873	0.51164	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.55413	0.52;0.52	5.0	4.01	0.46588	.	0.046387	0.85682	D	0.000000	T	0.74183	0.3683	M	0.83774	2.66	0.58432	D	0.999992	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;0.997;0.999;0.999;0.999	T	0.79369	-0.1832	10	0.87932	D	0	-1.0435	15.2325	0.73401	0.0:0.1412:0.8588:0.0	.	325;687;687;698;698	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	698;698;687	ENSP00000167462:R698H;ENSP00000376333:R698H	ENSP00000167462:R698H	R	+	2	0	LLGL2	71078693	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	9.807000	0.99171	1.076000	0.40961	0.555000	0.69702	CGC		0.642	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		5	672	0	0	0	1	0	5	672					A	73567098	G	A	73567098	3	1	106	1	0	0	0	0	1	0	0	0	8867	1087	38	1	2190	1	LLGL2	17	73567098	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	26640461	73567098	7628112	110	35858											
DSG2	1829	broad.mit.edu	37	chr18	29122723	29122723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgaaaccacgaagaccGcaagggccacaggggcttcc	11	15	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr18:29122723G>A	ENST00000261590.8	+	14	2451	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	748					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)			CACGAAGACCGCAAGGGCCAC	0.517																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2242-2244)Gca>Aca		desmoglein 2							88	94	92					18																	29122723		2045	4203	6248	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29122723G>A	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.2242G>A	18.37:g.29122723G>A	ENSP00000261590:p.Ala748Thr					RP11-75N4.2_ENST00000583706.1_RNA	p.A748T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		14	2451	+			748					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2242G>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	g	4.453	0.083827	0.08583	.	.	ENSG00000046604	ENST00000261590	T	0.58506	0.33	5.97	-2.61	0.06171	.	1.161370	0.06133	N	0.671107	T	0.20740	0.0499	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24119	-1.0169	10	0.02654	T	1	.	2.1079	0.03695	0.1819:0.1398:0.4044:0.274	.	748	Q14126	DSG2_HUMAN	T	748	ENSP00000261590:A748T	ENSP00000261590:A748T	A	+	1	0	DSG2	27376721	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.708000	0.05035	-0.360000	0.08138	-0.285000	0.09966	GCA		0.517	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		6	569	0	0	0	1	0	6	569					A	29122723	G	A	29122723	3	1	106	1	0	0	0	0	1	0	0	0	4793	1087	38	1	2296	1	DSG2	18	29122723	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		29122723	48954525	111	35859											
ZADH2	284273	broad.mit.edu	37	chr18	72913980	72913980	+	Frame_Shift_Del	DEL	T	T	-													gctgctgctgtcaccaaaacTtttttcccttccgacagtcc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr18:72913980delT	ENST00000322342.3	-	2	814	c.525delA	c.(523-525)aaafs	p.K175fs	ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	175						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)		TCACCAAAACTTTTTTCCCTT	0.517																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(523-525)aafs		zinc binding alcohol dehydrogenase domain containing 2							269	285	280					18																	72913980		2203	4300	6503	SO:0001589	frameshift_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913980delT	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.525delA	18.37:g.72913980delT	ENSP00000323678:p.Lys175fs					ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	p.K175fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	814	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	175					A8KA15|B4DZ91	Frame_Shift_Del	DEL	ENST00000322342.3	37	c.525delA	CCDS12008.1																																																																																				0.517	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		7	2432						7	2432	---	---	---	---	-	72913980	T	-	72913980	7	5	106	1	0	1	0	1	0	0	0	0	17565	1606	56	0	612	0	ZADH2	18	72913980	Frame_Shift_Del	DEL	T	TCGA-Q3-A5QY-01A-12D-A32N-08	43791257	72913980	5163268	112	35860											
GNA15	2769	broad.mit.edu	37	chr19	3151725	3151725	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgtcccacctggagcGcatcaccgaggagggctacg	12	15	1	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:3151725G>A	ENST00000262958.3	+	4	764	c.506G>A	c.(505-507)cGc>cAc	p.R169H	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	169					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)		CACCTGGAGCGCATCACCGAG	0.632																																						ENST00000262958.3																			0				large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(505-507)cGc>cAc		guanine nucleotide binding protein (G protein), alpha 15 (Gq class)							107	93	98					19																	3151725		2203	4300	6503	SO:0001583	missense	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3151725G>A		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.506G>A	19.37:g.3151725G>A	ENSP00000262958:p.Arg169His					AC005264.2_ENST00000587587.1_RNA	p.R169H	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN		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)	4	764	+		Hepatocellular(1079;0.137)	169					E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	ENST00000262958.3	37	c.506G>A	CCDS12104.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027420	0.93518	.	.	ENSG00000060558	ENST00000262958	D	0.91996	-2.95	4.59	4.59	0.56863	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	U	0.000000	D	0.96935	0.8999	M	0.94101	3.495	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	D	0.98010	1.0365	10	0.87932	D	0	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	169	P30679	GNA15_HUMAN	H	169	ENSP00000262958:R169H	ENSP00000262958:R169H	R	+	2	0	GNA15	3102725	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	6.643000	0.74334	2.093000	0.63338	0.546000	0.68486	CGC		0.632	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		5	597	0	0	0	1	0	5	597					A	3151725	G	A	3151725	3	1	106	1	0	0	0	0	1	0	0	0	6532	1087	38	1	520	1	GNA15	19	3151725	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		3151725	55977258	113	35861											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	11	8	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106	111	109					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		8	573	0	0	0	1	0	8	573					A	12575498	G	A	12575498	3	1	106	1	0	0	0	0	1	0	0	0	18166	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	9423773	12575498	46553485	114	35862											
C19orf57	79173	broad.mit.edu	37	chr19	14000364	14000364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccggggatgcatgaccGgaatctccagcacccatcat	11	13	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:14000364G>A	ENST00000586783.1	-	5	1304	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	C19orf57_ENST00000346736.2_Silent_p.S435S|C19orf57_ENST00000454313.1_Silent_p.S435S|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	435					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)			ATGCATGACCGGAATCTCCAG	0.622																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1303-1305)tcC>tcT		chromosome 19 open reading frame 57							52	54	53					19																	14000364		2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14000364G>A	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.1305C>T	19.37:g.14000364G>A						C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.S435S|C19orf57_ENST00000586783.1_Silent_p.S435S	p.S435S			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1363	-			435					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.1305C>T																																																																																					0.622	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		5	406	0	0	0	1	0	5	406					A	14000364	G	A	14000364	2	1	106	1	0	0	0	0	0	0	0	1	1946	1103	39	1		1	C19orf57	19	14000364	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1424866	14000364	45128619	115	35863											
ZNF780A	284323	broad.mit.edu	37	chr19	40581260	40581260	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaggccttcccacattccctGcattcaaagggtttctcacc	6	15	2	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:40581260G>T	ENST00000595687.2	-	6	1298	c.1089C>A	c.(1087-1089)tgC>tgA	p.C363*	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Nonsense_Mutation_p.C329*|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.C363*|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.C364*|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.C364*	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACATTCCCTGCATTCAAAGG	0.413																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(985-987)tgC>tgA		zinc finger protein 780A							90	93	92					19																	40581260		2203	4300	6503	SO:0001587	stop_gained	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581260G>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1089C>A	19.37:g.40581260G>T	ENSP00000472189:p.Cys363*					ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.C364*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.C363*|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.C363*|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.C364*	p.C329*			O75290	Z780A_HUMAN			6	1298	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		363					E9PB48|Q6ZN87	Nonsense_Mutation	SNP	ENST00000595687.2	37	c.987C>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002249	0.74932	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	.	.	.	1.84	-1.02	0.10135	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8416	0.18637	0.6476:0.0:0.3524:0.0	.	.	.	.	X	363;364;363	.	ENSP00000341507:C363X	C	-	3	2	ZNF780A	45273100	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-1.166000	0.03129	-0.593000	0.05844	-0.679000	0.03777	TGC		0.413	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		14	439	1	0	4.93089e-13	1	5.4485e-13	14	439					T	40581260	G	T	40581260	4	4	106	1	0	0	0	0	0	1	0	0	18205	1311	46	3	967	3	ZNF780A	19	40581260	Nonsense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	26580896	40581260	18547723	116	35864											
ATP1A3	478	broad.mit.edu	37	chr19	42490359	42490359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgatgatcaccacggccGccagcacgatgcccaggtac	11	15	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:42490359G>A	ENST00000302102.5	-	5	530	c.380C>T	c.(379-381)gCg>gTg	p.A127V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V|ATP1A3_ENST00000545399.1_Missense_Mutation_p.A140V|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	127					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						CACCACGGCCGCCAGCACGAT	0.607																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(418-420)gCg>gTg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							57	51	53					19																	42490359		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42490359G>A		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.380C>T	19.37:g.42490359G>A	ENSP00000302397:p.Ala127Val					ATP1A3_ENST00000302102.5_Missense_Mutation_p.A127V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A138V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A97V	p.A140V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			5	572	-			127					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.419C>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603856	0.66445	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	3.6	3.6	0.41247	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.067171	0.56097	D	0.000024	D	0.85048	0.5608	N	0.17838	0.53	0.47621	D	0.999477	B;P;B;P	0.39759	0.007;0.638;0.35;0.687	B;B;B;P	0.45610	0.026;0.355;0.177;0.487	T	0.81510	-0.0900	10	0.14656	T	0.56	.	13.5331	0.61633	0.0:0.0:1.0:0.0	.	140;138;127;127	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	V	127;127;140;97;138;140	ENSP00000302397:A127V;ENSP00000411503:A127V;ENSP00000444688:A140V;ENSP00000437577:A138V	ENSP00000302397:A127V	A	-	2	0	ATP1A3	47182199	1.000000	0.71417	0.983000	0.44433	0.838000	0.47535	9.835000	0.99442	1.965000	0.57142	0.491000	0.48974	GCG		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		5	296	0	0	0	1	0	5	296					A	42490359	G	A	42490359	3	1	106	1	0	0	0	0	1	0	0	0	1131	1087	38	1	2737	1	ATP1A3	19	42490359	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1909099	42490359	16638624	117	35865											
PSG9	5678	broad.mit.edu	37	chr19	43763169	43763169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacggggaggctctgaccGtttagccaccaaatgtaggt	13	10	1	2	rs2355449		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:43763169G>A	ENST00000270077.3	-	4	924	c.828C>T	c.(826-828)aaC>aaT	p.N276N	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Silent_p.N183N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	276	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473																																						ENST00000418820.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(547-549)aaC>aaT		pregnancy specific beta-1-glycoprotein 9		A		2,4298		0,2,2148	220	231	227		828	-2.8	0	19	dbSNP_100	227	2,8562		0,2,4280	no	coding-synonymous	PSG9	NM_002784.3		0,4,6428	AA,AG,GG		0.0234,0.0465,0.0311		276/427	43763169	4,12860	2150	4282	6432	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43763169G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.828C>T	19.37:g.43763169G>A						PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000270077.3_Silent_p.N276N	p.N183N			Q00887	PSG9_HUMAN			3	647	-		Prostate(69;0.00682)	183			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.549C>T	CCDS12618.1																																																																																				0.473	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		10	1409	0	0	0	1	0	10	1409					A	43763169	G	A	43763169	2	1	106	1	0	0	0	0	0	0	0	1	12709	1136	40	1		1	PSG9	19	43763169	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	1272810	43763169	15365814	118	35866											
CCDC8	83987	broad.mit.edu	37	chr19	46914994	46914994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcctcttccctctgGttatctgcagcctctgcccc	7	18	5	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1072-1074)aaC>aaT		coiled-coil domain containing 8							110	114	113					19																	46914994		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914994G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1074C>T	19.37:g.46914994G>A							p.N358N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1847	-			358					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1074C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070787	0.07228	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.36	-6.71	0.01760	.	.	.	.	.	T	0.31451	0.0797	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.43343	-0.9397	5	0.56958	D	0.05	-0.0528	4.9413	0.13967	0.3358:0.0:0.4408:0.2233	.	.	.	.	I	205	.	ENSP00000441180:T205I	T	-	2	0	CCDC8	51606834	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.986000	0.03747	-1.548000	0.01712	-0.772000	0.03388	ACC		0.587	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		10	1164	0	0	0	1	0	10	1164					A	46914994	G	A	46914994	2	1	106	1	0	0	0	0	0	0	0	1	2860	1252	44	2		2	CCDC8	19	46914994	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	3151825	46914994	12213989	119	35867											
NUCB1	4924	broad.mit.edu	37	chr19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-													gctgcacatggagcagcggaAgcagcagcagcagcagcagc							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del|NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	407	Poly-Gln.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(1198-1203)aag>a		nucleobindin 1																																				SO:0001651	inframe_deletion	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49425109_49425111delAGC	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"EF-hand domain containing"	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1199_1201delAGC	19.37:g.49425118_49425120delAGC	ENSP00000385923:p.Gln407del					NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del	p.KQ400del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	12	1533_1535	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	400					B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	ENST00000405315.4	37	c.1199_1201delAGC	CCDS12740.1																																																																																				0.64	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		8	239						8	239	---	---	---	---	-	49425111	AGC	-	49425109	7	5	106	1	0	1	0	1	0	0	0	0	10760	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-Q3-A5QY-01A-12D-A32N-08	2510115	49425109	9703874	120	35868											
VN1R2	317701	broad.mit.edu	37	chr19	53762737	53762737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccttttgttctcatgtgccGtgaccccagcagatccaggc	9	15	1	2	rs374144136		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:53762737G>A	ENST00000341702.3	+	1	1193	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	370					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)		CTCATGTGCCGTGACCCCAGC	0.428																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1108-1110)cGt>cAt		vomeronasal 1 receptor 2		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	159	151	154		1109	-0.6	0	19		154	0,8600		0,0,4300	no	missense	VN1R2	NM_173856.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	370/396	53762737	2,13004	2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762737G>A	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.1109G>A	19.37:g.53762737G>A	ENSP00000351244:p.Arg370His					VN1R2_ENST00000598458.1_Intron	p.R370H	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1193	+			370					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1109G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089310	0.08632	4.54E-4	0.0	ENSG00000196131	ENST00000341702	T	0.41065	1.01	2.94	-0.602	0.11634	.	.	.	.	.	T	0.22399	0.0540	L	0.27053	0.805	0.09310	N	1	B	0.31879	0.344	B	0.29862	0.108	T	0.23154	-1.0196	9	0.12430	T	0.62	.	5.3114	0.15833	0.451:0.0:0.549:0.0	.	370	Q8NFZ6	VN1R2_HUMAN	H	370	ENSP00000351244:R370H	ENSP00000351244:R370H	R	+	2	0	VN1R2	58454549	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.212000	0.09319	-0.020000	0.14032	-0.234000	0.12200	CGT		0.428	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		6	666	0	0	0	1	0	6	666					A	53762737	G	A	53762737	3	1	106	1	0	0	0	0	1	0	0	0	17233	1145	40	1	1111	1	VN1R2	19	53762737	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	4337628	53762737	5366246	121	35869											
U2AF2	11338	broad.mit.edu	37	chr19	56185361	56185361	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgcagggcctgacgggccGcaagttcgccaacagagtgg	15	12	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:56185361G>A	ENST00000308924.4	+	12	1395	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	U2AF2_ENST00000450554.2_Missense_Mutation_p.R448H|EPN1_ENST00000411543.2_5'Flank|EPN1_ENST00000270460.6_5'Flank|EPN1_ENST00000085079.7_5'Flank|U2AF2_ENST00000590551.1_Missense_Mutation_p.R284H|CTD-2537I9.13_ENST00000592252.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	452	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGACGGGCCGCAAGTTCGCC	0.577																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(1342-1344)cGc>cAc		U2 small nuclear RNA auxiliary factor 2							83	81	82					19																	56185361		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56185361G>A	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1355G>A	19.37:g.56185361G>A	ENSP00000307863:p.Arg452His					CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.R452H|U2AF2_ENST00000590551.1_Missense_Mutation_p.R284H	p.R448H	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	12	2302	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	452			RRM 3.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1343G>A	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397206	0.96009	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.16743	2.32;2.32	4.42	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.56963	0.2021	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74518	-0.3639	10	0.87932	D	0	-18.4012	16.161	0.81712	0.0:0.0:1.0:0.0	.	452;448	P26368;P26368-2	U2AF2_HUMAN;.	H	452;448	ENSP00000307863:R452H;ENSP00000388475:R448H	ENSP00000307863:R452H	R	+	2	0	U2AF2	60877173	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.751000	0.91628	2.173000	0.68751	0.478000	0.44815	CGC		0.577	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		6	568	0	0	0	1	0	6	568					A	56185361	G	A	56185361	3	1	106	1	0	0	0	0	1	0	0	0	16877	1087	38	1	1401	1	U2AF2	19	56185361	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2422624	56185361	2943622	122	35870											
TRIM28	10155	broad.mit.edu	37	chr19	59057217	59057217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagacctgtgtagaggcGcaccagcgggtgaagtacac	15	9	0	3			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr19:59057217G>A	ENST00000253024.5	+	3	829	c.540G>A	c.(538-540)gcG>gcA	p.A180A	TRIM28_ENST00000341753.6_Intron|RN7SL525P_ENST00000579267.1_RNA	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	180	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)		GTGTAGAGGCGCACCAGCGGG	0.577																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(538-540)gcG>gcA		tripartite motif containing 28							84	77	80					19																	59057217		2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59057217G>A		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.540G>A	19.37:g.59057217G>A						TRIM28_ENST00000341753.6_Intron	p.A180A	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		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)	3	829	+		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)	180			RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.540G>A	CCDS12985.1																																																																																				0.577	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		5	341	0	0	0	1	0	5	341					A	59057217	G	A	59057217	2	1	106	1	0	0	0	0	0	0	0	1	16555	1074	38	1		1	TRIM28	19	59057217	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	2871856	59057217	71766	123	35871											
PREX1	57580	broad.mit.edu	37	chr20	47248824	47248824	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcggatacctgagtttgCggtaatactgctgaactttc	11	9	0	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:47248824C>T	ENST00000371941.3	-	35	4539	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	PREX1_ENST00000396220.1_Missense_Mutation_p.A1541T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1506					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)			CCTGAGTTTGCGGTAATACTG	0.622																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(4621-4623)Gca>Aca		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							152	145	148					20																	47248824		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47248824C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4517G>A	20.37:g.47248824C>T	ENSP00000361009:p.Arg1506His					PREX1_ENST00000371941.3_Missense_Mutation_p.R1506H	p.A1541T			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		34	4643	-			0					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4621G>A	CCDS13410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.541|9.541	1.113378|1.113378	0.20795|0.20795	.|.	.|.	ENSG00000124126|ENSG00000124126	ENST00000396220|ENST00000371941	T|T	0.62232|0.61158	0.04|0.13	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.000000	.|0.48767	.|U	.|0.000173	T|T	0.72985|0.72985	0.3529|0.3529	M|M	0.64997|0.64997	1.995|1.995	0.24143|0.24143	N|N	0.99572|0.99572	.|D;D	.|0.89917	.|0.973;1.0	.|P;D	.|0.69307	.|0.635;0.963	T|T	0.67814|0.67814	-0.5573|-0.5573	7|10	0.87932|0.87932	D|D	0|0	.|.	17.2495|17.2495	0.87038|0.87038	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1506;803	.|Q8TCU6;Q8TCU6-2	.|PREX1_HUMAN;.	T|H	1541|1506	ENSP00000379522:A1541T|ENSP00000361009:R1506H	ENSP00000379522:A1541T|ENSP00000361009:R1506H	A|R	-|-	1|2	0|0	PREX1|PREX1	46682231|46682231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.044000|0.044000	0.14063|0.14063	4.466000|4.466000	0.60148|0.60148	2.046000|2.046000	0.60703|0.60703	0.456000|0.456000	0.33151|0.33151	GCA|CGC		0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		7	1069	0	0	0	1	0	7	1069					T	47248824	C	T	47248824	3	4	106	1	0	0	0	0	1	0	0	0	12523	768	27	1	486	1	PREX1	20	47248824	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08		47248824	15776696	124	35872											
EEF1A2	1917	broad.mit.edu	37	chr20	62122019	62122019	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgatgttcactggcGcaaaggtcaccaccatgccc	11	13	2	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr20:62122019G>A	ENST00000298049.7	-	5	912	c.842C>T	c.(841-843)gCg>gTg	p.A281V	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A281V			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	281					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTTCACTGGCGCAAAGGTCAC	0.637																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(841-843)gCg>gTg		eukaryotic translation elongation factor 1 alpha 2							61	56	58					20																	62122019		2197	4287	6484	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62122019G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.842C>T	20.37:g.62122019G>A	ENSP00000298049:p.Ala281Val					EEF1A2_ENST00000298049.7_Missense_Mutation_p.A281V	p.A281V	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1007	-	all_cancers(38;9.45e-12)		281					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.842C>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392399	0.62066	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.62364	0.03;0.03	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.060894	0.64402	D	0.000005	T	0.80919	0.4716	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.71414	0.973;0.824	D	0.85861	0.1410	10	0.87932	D	0	-14.6002	16.0768	0.80974	0.0:0.0:1.0:0.0	.	257;281	Q59GP5;Q05639	.;EF1A2_HUMAN	V	281	ENSP00000298049:A281V;ENSP00000217182:A281V	ENSP00000217182:A281V	A	-	2	0	EEF1A2	61592463	1.000000	0.71417	0.393000	0.26258	0.050000	0.14768	9.616000	0.98359	1.847000	0.53656	0.556000	0.70494	GCG		0.637	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		6	419	0	0	0	1	0	6	419					A	62122019	G	A	62122019	3	1	106	1	0	0	0	0	1	0	0	0	4940	1087	38	1	561	1	EEF1A2	20	62122019	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	14873195	62122019	903501	125	35873											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-													ccacctcttccacagactctGtggtggtggtggtggtggtg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr21:27394182_27394184delGTG	ENST00000346798.3	-	6	870_872	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000358918.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522																																						ENST00000358918.3																			0				endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(835-840)aca>ac		amyloid beta (A4) precursor protein																																				SO:0001651	inframe_deletion	351				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	g.chr21:27394182_27394184delGTG	M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.837_839delCAC	21.37:g.27394191_27394193delGTG	ENSP00000284981:p.Thr280del					APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del	p.TT279del	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN			6	1036_1038	-		Breast(209;0.00295)	279			Poly-Thr.		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	In_Frame_Del	DEL	ENST00000346798.3	37	c.837_839delCAC	CCDS13576.1																																																																																				0.522	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171340.1	NM_000484		9	194						9	194	---	---	---	---	-	27394184	GTG	-	27394182	7	5	106	1	0	1	0	1	0	0	0	0	815	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-Q3-A5QY-01A-12D-A32N-08		27394182	20735713	126	35874											
BRWD1	54014	broad.mit.edu	37	chr21	40630429	40630429	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttacctctccggggtgtttcTtcaccatttgaaagtcctct	7	12	4	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr21:40630429T>C	ENST00000333229.2	-	18	2382	c.2055A>G	c.(2053-2055)gaA>gaG	p.E685E	BRWD1_ENST00000380800.3_Silent_p.E685E|BRWD1_ENST00000342449.3_Silent_p.E685E	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	685					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)				GGGGTGTTTCTTCACCATTTG	0.388																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(2053-2055)gaA>gaG		bromodomain and WD repeat domain containing 1							197	193	195					21																	40630429		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40630429T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2055A>G	21.37:g.40630429T>C						BRWD1_ENST00000380800.3_Silent_p.E685E|BRWD1_ENST00000333229.2_Silent_p.E685E	p.E685E	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			18	2133	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	685					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.2055A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	4.863	0.160340	0.09287	.	.	ENSG00000185658	ENST00000455867	.	.	.	5.46	1.8	0.24995	.	.	.	.	.	T	0.57140	0.2033	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48031	-0.9070	4	.	.	.	-13.145	8.7115	0.34387	0.0:0.2966:0.0:0.7034	.	.	.	.	G	397	.	.	R	-	1	2	BRWD1	39552299	1.000000	0.71417	0.992000	0.48379	0.658000	0.38924	1.633000	0.37113	0.075000	0.16796	0.533000	0.62120	AGA		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		13	782	0	0	0	1	0	13	782					C	40630429	T	C	40630429	2	2	106	1	0	0	0	0	0	0	0	1	1529	1606	56	4		4	BRWD1	21	40630429	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08	13236247	40630429	7499466	127	35875											
PI4KA	5297	broad.mit.edu	37	chr22	21161674	21161674	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgtagtacagagtgtcacGcagcatcttgaacatggtca	10	9	3	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:21161674G>A	ENST00000572273.1	-	10	1200	c.970C>T	c.(970-972)Cgt>Tgt	p.R324C	PI4KA_ENST00000255882.6_Missense_Mutation_p.R382C			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	324					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)			AGAGTGTCACGCAGCATCTTG	0.527																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(1144-1146)Cgt>Tgt		phosphatidylinositol 4-kinase, catalytic, alpha							193	133	153					22																	21161674		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21161674G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.970C>T	22.37:g.21161674G>A	ENSP00000458238:p.Arg324Cys					PI4KA_ENST00000572273.1_Missense_Mutation_p.R324C	p.R382C	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		10	1230	-	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)	324					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.1144C>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.939393	0.73557	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.24	1.8	0.24995	.	0.102520	0.64402	D	0.000005	T	0.69378	0.3104	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.69124	-0.5228	9	0.87932	D	0	-3.9646	7.1937	0.25841	0.0867:0.0:0.3995:0.5138	.	382;324	D3DX33;P42356	.;PI4KA_HUMAN	C	324	.	ENSP00000255882:R324C	R	-	1	0	PI4KA	19491674	1.000000	0.71417	0.511000	0.27724	0.941000	0.58515	3.750000	0.55157	0.776000	0.33473	-0.136000	0.14681	CGT		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		4	172	0	0	0	1	0	4	172					A	21161674	G	A	21161674	3	1	106	1	0	0	0	0	1	0	0	0	11915	1087	38	1	5348	1	PI4KA	22	21161674	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08		21161674	30142892	128	35876											
TRIOBP	11078	broad.mit.edu	37	chr22	38120997	38120997	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcccatcagagccacccaaCaggacaaccccagaacttgt	6	17	1	2			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:38120997C>T	ENST00000406386.3	+	7	2689	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	812					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)					AGCCACCCAACAGGACAACCC	0.517																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2434-2436)Cag>Tag		TRIO and F-actin binding protein							161	170	167					22																	38120997		1982	4174	6156	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120997C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2434C>T	22.37:g.38120997C>T	ENSP00000384312:p.Gln812*					RP1-37E16.12_ENST00000455236.1_RNA	p.Q812*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2689	+	Melanoma(58;0.0574)		812					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.2434C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	39	7.393041	0.98255	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.21	0.597	0.17504	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	9.6691	0.40002	0.5296:0.4704:0.0:0.0	.	.	.	.	X	812	.	ENSP00000384312:Q812X	Q	+	1	0	TRIOBP	36450943	0.000000	0.05858	0.000000	0.03702	0.516000	0.34256	-3.739000	0.00379	0.030000	0.15379	0.460000	0.39030	CAG		0.517	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	408	0	0	0	1	0	8	408					T	38120997	C	T	38120997	4	4	106	1	0	0	0	0	0	1	0	0	16606	479	17	2	2452	2	TRIOBP	22	38120997	Nonsense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	16959323	38120997	13183569	129	35877											
XRCC6	2547	broad.mit.edu	37	chr22	42018069	42018069	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aagaagcagaggaagaacaaGaagagaaccttgaagcaagt	12	5	0	6			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:42018069G>A	ENST00000359308.4	+	1	716	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	XRCC6_ENST00000405506.1_Silent_p.K8K|DESI1_ENST00000263256.6_5'Flank|XRCC6_ENST00000360079.3_Missense_Mutation_p.E21K|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000405878.1_Missense_Mutation_p.E21K|XRCC6_ENST00000402580.3_Missense_Mutation_p.E21K			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	21	Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).				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						GGAAGAACAAGAAGAGAACCT	0.483								Non-homologous end-joining																														ENST00000359308.4																			0				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						c.(61-63)Gaa>Aaa	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 6							217	185	196					22																	42018069		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42018069G>A	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.61G>A	22.37:g.42018069G>A	ENSP00000352257:p.Glu21Lys					XRCC6_ENST00000405878.1_Missense_Mutation_p.E21K|XRCC6_ENST00000360079.3_Missense_Mutation_p.E21K|XRCC6_ENST00000405506.1_Silent_p.K8K|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000402580.3_Missense_Mutation_p.E21K	p.E21K			P12956	XRCC6_HUMAN			1	716	+			21			Asp/Glu-rich (acidic).|Ser-rich (potentially targets for phosphorylation).		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.61G>A	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350682	0.82132	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000359308;ENST00000405878;ENST00000402409	.	.	.	5.36	4.33	0.51752	.	0.457363	0.21898	N	0.067499	T	0.58148	0.2102	M	0.61703	1.905	0.80722	D	1	B;B;B	0.16166	0.016;0.01;0.01	B;B;B	0.14578	0.011;0.007;0.007	T	0.53885	-0.8375	9	0.24483	T	0.36	-1.1576	13.523	0.61578	0.0:0.1562:0.8438:0.0	.	21;21;21	B1AHC7;B1AHC8;P12956	.;.;XRCC6_HUMAN	K	21	.	ENSP00000352257:E21K	E	+	1	0	XRCC6	40348015	0.996000	0.38824	0.051000	0.19133	0.208000	0.24298	2.401000	0.44513	1.229000	0.43630	0.655000	0.94253	GAA		0.483	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		6	282	0	0	0	1	0	6	282					A	42018069	G	A	42018069	3	1	106	1	0	0	0	0	1	0	0	0	17511	943	33	2	63	2	XRCC6	22	42018069	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	3897072	42018069	9286497	130	35878											
TTLL8	164714	broad.mit.edu	37	chr22	50487686	50487686	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggggacgtaccatcacgtCgtggatgttgtctgttttct	12	9	3	0			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chr22:50487686C>T	ENST00000266182.6	-	3	255	c.256G>A	c.(256-258)Gac>Aac	p.D86N	TTLL8_ENST00000440475.1_Missense_Mutation_p.D86N|TTLL8_ENST00000477219.1_5'UTR			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	122					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		ACCATCACGTCGTGGATGTTG	0.527																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(256-258)Gac>Aac		tubulin tyrosine ligase-like family, member 8							323	344	337					22																	50487686		2113	4232	6345	SO:0001583	missense	164714							g.chr22:50487686C>T			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.256G>A	22.37:g.50487686C>T	ENSP00000266182:p.Asp86Asn					TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.D86N	p.D86N						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	3	255	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	C	3.584	-0.084930	0.07097	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.16743	2.32;2.32;2.32	4.67	2.56	0.30785	.	0.851391	0.09565	U	0.785033	T	0.12050	0.0293	N	0.19112	0.55	0.20638	N	0.999876	B	0.13145	0.007	B	0.06405	0.002	T	0.33727	-0.9857	10	0.30078	T	0.28	.	11.2427	0.48979	0.0:0.8981:0.0:0.1019	.	86	B5MDV0	.	N	86;86;122	ENSP00000266182:D86N;ENSP00000387509:D86N;ENSP00000392252:D122N	ENSP00000266182:D86N	D	-	1	0	TTLL8	48829813	0.009000	0.17119	0.054000	0.19295	0.000000	0.00434	1.434000	0.34958	0.390000	0.25115	-1.149000	0.01842	GAC		0.527	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		12	640	0	0	0	1	0	12	640					T	50487686	C	T	50487686	3	4	106	1	0	0	0	0	1	0	0	0	16787	884	31	1	2295	1	TTLL8	22	50487686	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	8469617	50487686	816880	131	35879											
DMD	1756	broad.mit.edu	37	chrX	31222081	31222081	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgaataacttacaaaTtggaagcagctccggacact	10	8	0	1	rs12690372	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:31222081T>C	ENST00000357033.4	-	67	10010	c.9804A>G	c.(9802-9804)caA>caG	p.Q3268Q	DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000378702.4_Silent_p.Q200Q|DMD_ENST00000378677.2_Silent_p.Q3264Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000343523.2_Silent_p.Q808Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000359836.1_Silent_p.Q808Q	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	3268	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)				AACTTACAAATTGGAAGCAGC	0.383																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(9802-9804)caA>caG		dystrophin		T	,,,,,,,,,,,,,,,,,	2,3831		0,2,1629,571	58	51	53		9780,9804,9435,9792,9435,5781,5772,2424,1617,600,600,600,600,600,2424,2424,2424,2424	-7	0.6	X	dbSNP_120	53	0,6728		0,0,2428,1872	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	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004014.2,NM_004015.2,NM_004016.2,NM_004017.2,NM_004018.2,NM_004019.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	,,,,,,,,,,,,,,,,,	0,2,4057,2443	CC,CT,TT,T		0.0,0.0522,0.0189	,,,,,,,,,,,,,,,,,	3260/3678,3268/3686,3145/3563,3264/3682,3145/3563,1927/2345,1924/2342,808/1226,539/957,200/618,200/636,200/605,200/623,200/341,808/1116,808/1244,808/1231,808/1134	31222081	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31222081T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9804A>G	X.37:g.31222081T>C						DMD_ENST00000474231.1_Silent_p.Q808Q|DMD_ENST00000541735.1_Silent_p.Q808Q|DMD_ENST00000361471.4_Silent_p.Q200Q|DMD_ENST00000378680.2_Silent_p.Q200Q|DMD_ENST00000378723.3_Silent_p.Q200Q|DMD_ENST00000378707.3_Silent_p.Q808Q|DMD_ENST00000378702.4_Silent_p.Q200Q|DMD_ENST00000378677.2_Silent_p.Q3264Q|DMD_ENST00000359836.1_Silent_p.Q808Q|DMD_ENST00000343523.2_Silent_p.Q808Q	p.Q3268Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			67	10010	-		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)	3268			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.9804A>G	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	9.064	0.995258	0.19043	5.22E-4	0.0	ENSG00000198947	ENST00000465285	.	.	.	5.11	-6.97	0.01616	.	.	.	.	.	T	0.62221	0.2410	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66196	-0.5984	4	.	.	.	.	15.5819	0.76448	0.1098:0.7325:0.0:0.1577	rs12690372;rs12690372	.	.	.	V	997	.	.	I	-	1	0	DMD	31132002	0.975000	0.34042	0.629000	0.29254	0.985000	0.73830	0.181000	0.16880	-2.089000	0.00860	-0.323000	0.08544	ATT		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	210	0	0	0	1	0	6	210					C	31222081	T	C	31222081	2	2	106	1	0	0	0	0	0	0	0	1	4596	1490	52	4		4	DMD	23	31222081	Silent	SNP	T	TCGA-Q3-A5QY-01A-12D-A32N-08		31222081	124048479	132	35880											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		11	398	0	0	0	1	0	11	398					G	37028425	A	G	37028425	3	3	106	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-Q3-A5QY-01A-12D-A32N-08	5806344	37028425	118242135	133	35881											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		5	237	0	0	0	1	0	5	237					C	73811938	G	C	73811938	2	2	106	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	36783513	73811938	81458622	134	35882											
PGAM4	441531	broad.mit.edu	37	chrX	77224547	77224547	+	Missense_Mutation	SNP	C	C	G													ctcttcagagagaccctccaCatgcttggcaatgccctgga					rs148072662		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224547C>G	ENST00000458128.1	-	1	588	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	197					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						AGACCCTCCACATGCTTGGCA	0.507																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(589-591)Gtg>Ctg		phosphoglycerate mutase family member 4							117	109	112					X																	77224547		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224547C>G	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.589G>C	X.37:g.77224547C>G	ENSP00000412189:p.Val197Leu					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	p.V197L	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	588	-			197					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.589G>C	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.261655	0.01445	.	.	ENSG00000226784	ENST00000458128	T	0.75050	-0.9	0.119	-0.238	0.13055	.	0.228496	0.30901	N	0.008654	T	0.12050	0.0293	N	0.00000	-4.07	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.54589	-0.8271	9	.	.	.	-28.907	2.1607	0.03824	0.0:0.3336:0.3399:0.3265	.	197	Q8N0Y7	PGAM4_HUMAN	L	197	ENSP00000412189:V197L	.	V	-	1	0	PGAM4	77111203	1.000000	0.71417	0.624000	0.29186	0.632000	0.37999	1.491000	0.35583	-1.166000	0.02783	-1.192000	0.01694	GTG		0.507	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		6	394	0	0	0	1	0	6	394					G	77224547	C	G	77224547	3	3	106	1	0	0	0	0	1	0	0	0	11817	478	17	5	179	5	PGAM4	23	77224547	Missense_Mutation	SNP	C	TCGA-Q3-A5QY-01A-12D-A32N-08	3412609	77224547	78046013	135	35883	225	2									
PGAM4	441531	broad.mit.edu	37	chrX	77224555	77224555	+	Missense_Mutation	SNP	G	G	A													agagaccctccacatgcttgGcaatgccctggaggctgttg							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:77224555G>A	ENST00000458128.1	-	1	580	c.581C>T	c.(580-582)gCc>gTc	p.A194V	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	194					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CACATGCTTGGCAATGCCCTG	0.517																																						ENST00000458128.1																			0				endometrium(2)|lung(4)	6						c.(580-582)gCc>gTc		phosphoglycerate mutase family member 4							113	106	109					X																	77224555		2203	4296	6499	SO:0001583	missense	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224555G>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"phosphoglycerate mutase family 4"			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.581C>T	X.37:g.77224555G>A	ENSP00000412189:p.Ala194Val					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron	p.A194V	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN			1	580	-			194					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Missense_Mutation	SNP	ENST00000458128.1	37	c.581C>T	CCDS35338.1	.	.	.	.	.	.	.	.	.	.	G	0.437	-0.900331	0.02472	.	.	ENSG00000226784	ENST00000458128	T	0.79749	-1.3	0.119	-0.238	0.13055	.	0.073524	0.53938	N	0.000053	T	0.21509	0.0518	N	0.00002	-3.58	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.56517	-0.7966	9	.	.	.	-28.5563	3.8407	0.08912	0.6619:0.0:0.338:0.0	.	194	Q8N0Y7	PGAM4_HUMAN	V	194	ENSP00000412189:A194V	.	A	-	2	0	PGAM4	77111211	1.000000	0.71417	0.589000	0.28718	0.597000	0.36814	4.491000	0.60326	-0.870000	0.04047	-0.855000	0.03028	GCC		0.517	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2	NM_001029891		5	393	0	0	0	1	0	5	393					A	77224555	G	A	77224555	3	1	106	1	0	0	0	0	1	0	0	0	11817	1203	42	2	187	2	PGAM4	23	77224555	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	8	77224555	78046005	136	35884	225	2									
IRS4	8471	broad.mit.edu	37	chrX	107978822	107978822	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacacagccggaacacgccGctcagctcttttctgtgccc	9	16	3	1			TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:107978822G>A	ENST00000372129.2	-	1	829	c.753C>T	c.(751-753)agC>agT	p.S251S	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	251	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				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						GGAACACGCCGCTCAGCTCTT	0.627																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(751-753)agC>agT		insulin receptor substrate 4							47	42	44					X																	107978822		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978822G>A	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.753C>T	X.37:g.107978822G>A							p.S251S	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	829	-			251			IRS-type PTB.			Silent	SNP	ENST00000372129.2	37	c.753C>T	CCDS14544.1																																																																																				0.627	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		4	204	0	0	0	1	0	4	204					A	107978822	G	A	107978822	2	1	106	1	0	0	0	0	0	0	0	1	7872	1078	38	1		1	IRS4	23	107978822	Silent	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	30754267	107978822	47291738	137	35885											
RBMX	27316	broad.mit.edu	37	chrX	135957302	135957302	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatgatctgaatagtcacGatcacgaccatatccatctc	7	11	4	2	rs374604645		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:135957302G>A	ENST00000320676.7	-	8	962	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	RBMX_ENST00000431446.3_Silent_p.I161I|RBMX_ENST00000565438.1_Missense_Mutation_p.R142C|RBMX_ENST00000562646.1_Missense_Mutation_p.R270C|RBMX_ENST00000496459.2_5'Flank|RBMX_ENST00000570135.1_Missense_Mutation_p.R135C	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	270					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R270C(1)|p.I161I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GAATAGTCACGATCACGACCA	0.383																																						ENST00000562646.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R270C(1)|p.I161I(1)	cervix(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(808-810)Cgt>Tgt		RNA binding motif protein, X-linked							179	172	174					X																	135957302		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135957302G>A		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.808C>T	X.37:g.135957302G>A	ENSP00000359645:p.Arg270Cys					RBMX_ENST00000431446.3_Silent_p.I161I|RBMX_ENST00000565438.1_Missense_Mutation_p.R142C|RBMX_ENST00000320676.7_Missense_Mutation_p.R270C|RBMX_ENST00000570135.1_Missense_Mutation_p.R135C	p.R270C			P38159	HNRPG_HUMAN			8	962	-	Acute lymphoblastic leukemia(192;0.000127)		270					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.808C>T	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	14.73	2.623406	0.46840	.	.	ENSG00000147274	ENST00000419968;ENST00000320676;ENST00000449161	T	0.79845	-1.31	5.49	4.58	0.56647	.	0.000000	0.64402	U	0.000001	D	0.87928	0.6301	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.928	D	0.88458	0.3053	9	0.87932	D	0	.	9.2414	0.37498	0.0876:0.0:0.7644:0.148	.	270;257	P38159;Q8N8Y7	HNRPG_HUMAN;.	C	67;270;257	ENSP00000359645:R270C	ENSP00000359645:R270C	R	-	1	0	RBMX	135784968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.810000	0.38932	2.435000	0.82474	0.600000	0.82982	CGT		0.383	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		5	456	0	0	0	1	0	5	456					A	135957302	G	A	135957302	3	1	106	1	0	0	0	0	1	0	0	0	13201	1058	37	1	430	1	RBMX	23	135957302	Missense_Mutation	SNP	G	TCGA-Q3-A5QY-01A-12D-A32N-08	27978480	135957302	19313258	138	35886											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	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)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	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.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	197						9	197	---	---	---	---	-	149639327	CAG	-	149639325	7	5	106	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-Q3-A5QY-01A-12D-A32N-08	13682023	149639325	5631235	139	35887											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	720						7	720	---	---	---	---	-	149937528	GGC	-	149937526	7	5	106	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-Q3-A5QY-01A-12D-A32N-08	298201	149937526	5333034	140	35888											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-Q3-A5QY-01A-12D-A32N-08	TCGA-Q3-A5QY-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac05724b-42c0-4cb3-806b-aadc13554d38	db4aed26-55eb-44b7-91d4-d8c50b9ccce3	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		15	337						15	337	---	---	---	---	-	150817144	GCT	-	150817142	7	5	106	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-Q3-A5QY-01A-12D-A32N-08	879616	150817142	4453418	141	35889											
ZNF642	339559	broad.mit.edu	37	chr1	40945109	40945109	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacatccaaagaaggccGtggagggggcgcccctgtgg	16	11	0	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:40945109G>A	ENST00000372706.1	+	2	1082	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	ZFP69_ENST00000372705.3_Missense_Mutation_p.V26M			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	26	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAAGAAGGCCGTGGAGGGGGC	0.562																																						ENST00000372706.1																			0											c.(76-78)Gtg>Atg		ZFP69 zinc finger protein							47	49	49					1																	40945109		2203	4300	6503	SO:0001583	missense	339559							g.chr1:40945109G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.76G>A	1.37:g.40945109G>A	ENSP00000361791:p.Val26Met					ZFP69_ENST00000372705.3_Missense_Mutation_p.V26M	p.V26M							2	1082	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.76G>A	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	.	5.567	0.289429	0.10567	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.05649	3.41;3.41	4.35	0.72	0.18214	.	0.964602	0.08443	N	0.945143	T	0.03739	0.0106	N	0.14661	0.345	0.19300	N	0.999973	B	0.17268	0.021	B	0.04013	0.001	T	0.43702	-0.9375	10	0.51188	T	0.08	.	3.2889	0.06942	0.5663:0.2115:0.2222:0.0	.	26	Q49AA0	ZN642_HUMAN	M	26	ENSP00000361791:V26M;ENSP00000361790:V26M	ENSP00000361790:V26M	V	+	1	0	ZNF642	40717696	0.135000	0.22499	0.800000	0.32199	0.030000	0.12068	0.096000	0.15147	0.261000	0.21753	-0.238000	0.12139	GTG		0.562	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		9	259	0	0	0	1	0	9	259					A	40945109	G	A	40945109	3	1	107	1	0	0	0	0	1	0	0	0	18111	1145	40	1	78	1	ZNF642	1	40945109	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		40945109	208305512	1	35890											
PTPRF	5792	broad.mit.edu	37	chr1	44064491	44064491	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cccagcaagcagcatggccaGatccgcggctaccaggtcac	11	16	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:44064491G>A	ENST00000359947.4	+	13	2560	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000422171.2_Silent_p.Q97Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Silent_p.Q740Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	740	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCATGGCCAGATCCGCGGCT	0.647																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(2218-2220)caG>caA		protein tyrosine phosphatase, receptor type, F							62	55	58					1																	44064491		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44064491G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2220G>A	1.37:g.44064491G>A						PTPRF_ENST00000438120.1_Silent_p.Q740Q|PTPRF_ENST00000372413.3_Silent_p.Q740Q|PTPRF_ENST00000372414.3_Silent_p.Q740Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.Q97Q	p.Q740Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			13	2560	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	740			Fibronectin type-III 5.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.2220G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.913|8.913	0.959151|0.959151	0.18507|0.18507	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|.	.|.	.|.	.|.	T|T	0.58308|0.58308	0.2113|0.2113	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56062|0.56062	-0.8041|-0.8041	4|4	.|.	.|.	.|.	.|.	8.5321|8.5321	0.33340|0.33340	0.1759:0.0:0.8241:0.0|0.1759:0.0:0.8241:0.0	.|.	.|.	.|.	.|.	N|K	306;163|397	.|.	.|.	D|R	+|+	1|2	0|0	PTPRF|PTPRF	43837078|43837078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	1.815000|1.815000	0.38981|0.38981	2.143000|2.143000	0.66587|0.66587	0.449000|0.449000	0.29647|0.29647	GAT|AGA		0.647	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			38	230	0	0	0	1	0	38	230					A	44064491	G	A	44064491	2	1	107	1	0	0	0	0	0	0	0	1	12851	933	33	2		2	PTPRF	1	44064491	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	3119382	44064491	205186130	2	35891											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	370						7	370	---	---	---	---	-	46184898	AC	-	46184897	7	5	107	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-Q3-AA2A-01A-11D-A377-08	2120406	46184897	203065724	3	35892											
PRPF38A	84950	broad.mit.edu	37	chr1	52870463	52870463	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgcacagcatccatggCaccaaccctcaatatctggt	8	14	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:52870463C>G	ENST00000257181.9	+	1	228	c.42C>G	c.(40-42)ggC>ggG	p.G14G	ORC1_ENST00000371566.1_5'Flank|ORC1_ENST00000371568.3_5'Flank|PRPF38A_ENST00000474048.1_3'UTR	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	14					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						GCATCCATGGCACCAACCCTC	0.463											OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000257181.9																			0				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						c.(40-42)ggC>ggG		pre-mRNA processing factor 38A							107	97	100					1																	52870463		2203	4300	6503	SO:0001819	synonymous_variant	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52870463C>G	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.42C>G	1.37:g.52870463C>G			OREG0013487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	988	PRPF38A_ENST00000474048.1_3'UTR	p.G14G	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN			1	228	+			14					Q96JW1|Q9BVZ8	Silent	SNP	ENST00000257181.9	37	c.42C>G	CCDS567.1																																																																																				0.463	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2	NM_032864		46	332	0	0	0	1	0	46	332					G	52870463	C	G	52870463	2	3	107	1	0	0	0	0	0	0	0	1	12614	697	25	5		5	PRPF38A	1	52870463	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	6685566	52870463	196380158	4	35893											
GBP1	2633	broad.mit.edu	37	chr1	89528769	89528769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatcaggtaggatttgCctgtgcggtagaggcccaca	13	9	2	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:89528769C>T	ENST00000370473.4	-	2	368	c.149G>A	c.(148-150)gGc>gAc	p.G50D		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	50	GB1/RHD3-type G.|GTPase domain (Globular).				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)		GTAGGATTTGCCTGTGCGGTA	0.517																																						ENST00000370473.4																			0				endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30						c.(148-150)gGc>gAc		guanylate binding protein 1, interferon-inducible							145	130	135					1																	89528769		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89528769C>T	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.149G>A	1.37:g.89528769C>T	ENSP00000359504:p.Gly50Asp						p.G50D	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	2	368	-		Lung NSC(277;0.123)	50					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.149G>A	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057674	0.55325	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	D	0.97994	-4.65	4.76	4.76	0.60689	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99375	0.9780	H	0.99415	4.555	0.45005	D	0.998025	D	0.89917	1.0	D	0.91635	0.999	D	0.98192	1.0463	10	0.87932	D	0	.	15.2561	0.73585	0.0:1.0:0.0:0.0	.	50	P32455	GBP1_HUMAN	D	50;13	ENSP00000359504:G50D	ENSP00000359504:G50D	G	-	2	0	GBP1	89301357	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	4.298000	0.59067	2.186000	0.69663	0.313000	0.20887	GGC		0.517	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		5	502	0	0	0	1	0	5	502					T	89528769	C	T	89528769	3	4	107	1	0	0	0	0	1	0	0	0	6301	739	26	2	1669	2	GBP1	1	89528769	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	36658306	89528769	159721852	5	35894											
SPAG17	200162	broad.mit.edu	37	chr1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-													ggagcattaccacctacaggTttttttgcctttttagatga							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						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)		CACCTACAGGTTTTTTTGCCT	0.254																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(280-282)aafs		sperm associated antigen 17							71	73	72					1																	118693199		2199	4287	6486	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693199delT		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.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs						p.K94fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	3	347	-	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)	94					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.282delA	CCDS899.1																																																																																				0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	808						12	808	---	---	---	---	-	118693199	T	-	118693199	7	5	107	1	0	1	0	1	0	0	0	0	15031	1722	60	0	6573	0	SPAG17	1	118693199	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	29164430	118693199	130557422	6	35895											
BCL9	607	broad.mit.edu	37	chr1	147084715	147084715	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaggtgatggtccgTccccctacagtgatgtcccc	12	13	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					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)					TGATGGTCCGTCCCCCTACAG	0.502			T	"IGH@, IGL@"	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"IGH@, IGL@"		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(85-87)cgT>cgC		B-cell CLL/lymphoma 9							87	90	89					1																	147084715		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147084715T>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.87T>C	1.37:g.147084715T>C						BCL9_ENST00000473292.1_3'UTR	p.R29R	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			5	827	+	all_hematologic(923;0.115)		29					Q5T489	Silent	SNP	ENST00000234739.3	37	c.87T>C	CCDS30833.1																																																																																				0.502	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		5	346	0	0	0	1	0	5	346					C	147084715	T	C	147084715	2	2	107	1	0	0	0	0	0	0	0	1	1382	1654	58	4		4	BCL9	1	147084715	Silent	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08	28391516	147084715	102165906	7	35896											
ZNF687	57592	broad.mit.edu	37	chr1	151259929	151259929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtccaaaggtggtgagcGtacagttgggtgatggtaca	17	5	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:151259929G>A	ENST00000368879.2	+	2	1260	c.1162G>A	c.(1162-1164)Gta>Ata	p.V388I		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	388					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)			GGTGGTGAGCGTACAGTTGGG	0.597																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(1162-1164)Gta>Ata		zinc finger protein 687							72	64	67					1																	151259929		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259929G>A		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.1162G>A	1.37:g.151259929G>A	ENSP00000357874:p.Val388Ile						p.V388I	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1260	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		388					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	14.70	2.613923	0.46631	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.92	5.27	5.27	0.74061	.	0.000000	0.32161	N	0.006495	T	0.01254	0.0041	L	0.44542	1.39	0.23089	N	0.998319	D;P;D	0.76494	0.996;0.954;0.999	P;B;P	0.56514	0.743;0.422;0.8	T	0.58312	-0.7658	9	.	.	.	.	17.8288	0.88674	0.0:0.0:1.0:0.0	.	388;388;388	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	I	388	ENSP00000336620:V388I;ENSP00000319829:V388I;ENSP00000357874:V388I	.	V	+	1	0	ZNF687	149526553	0.997000	0.39634	0.218000	0.23776	0.669000	0.39330	4.051000	0.57412	2.758000	0.94735	0.561000	0.74099	GTA		0.597	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		5	277	0	0	0	1	0	5	277					A	151259929	G	A	151259929	3	1	107	1	0	0	0	0	1	0	0	0	18145	1145	40	1	1164	1	ZNF687	1	151259929	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	4175214	151259929	97990692	8	35897											
UBE2Q1	55585	broad.mit.edu	37	chr1	154523416	154523416	+	Frame_Shift_Del	DEL	T	T	-													tcctggctccagcctcaccgTttttttcgtggatctgcacc							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:154523416delT	ENST00000292211.4	-	12	1314	c.1235delA	c.(1234-1236)aacfs	p.N412fs	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	412					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.N412fs*>12(1)|p.G413fs*>11(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTCACCGTTTTTTTCGTG	0.522																																						ENST00000292211.4																			2	Insertion - Frameshift(2)	p.N412fs*>12(1)|p.G413fs*>11(1)	haematopoietic_and_lymphoid_tissue(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(1234-1236)acfs		ubiquitin-conjugating enzyme E2Q family member 1							214	203	207					1																	154523416		2203	4300	6503	SO:0001589	frameshift_variant	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523416delT	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"Ubiquitin-conjugating enzymes E2"	15698	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2Q (putative)"	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1235delA	1.37:g.154523416delT	ENSP00000292211:p.Asn412fs						p.N412fs	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1314	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		412					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Frame_Shift_Del	DEL	ENST00000292211.4	37	c.1235delA	CCDS1069.1																																																																																				0.522	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		8	1169						8	1169	---	---	---	---	-	154523416	T	-	154523416	7	5	107	1	0	1	0	1	0	0	0	0	16923	1725	60	0	41	0	UBE2Q1	1	154523416	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	3263487	154523416	94727205	9	35898											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		5	238	0	0	0	1	0	5	238					A	162769603	G	A	162769603	3	1	107	1	0	0	0	0	1	0	0	0	7418	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	8246187	162769603	86481018	10	35899											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	8	338						8	338	---	---	---	---	A	165712551	-	A	165712550	8	5	107	1	0	1	1	0	0	0	1	0	16047	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	2942947	165712550	83538071	11	35900											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9547660	9547660	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagccagtaagctttttcccGcccccagaccgtcatcgtaa	8	15	1	1	rs17850889	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:9547660G>A	ENST00000360635.3	-	7	1345	c.449C>T	c.(448-450)gCg>gTg	p.A150V	ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_5'UTR			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	150	PID.			A -> V (in Ref. 4; AAH12264). {ECO:0000305}.	activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		GCTTTTTCCCGCCCCCAGACC	0.483																																						ENST00000360635.3																			0				kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8						c.(448-450)gCg>gTg		integrin beta 1 binding protein 1		G	VAL/ALA,	2,4404	4.2+/-10.8	0,2,2201	164	138	147		449,	5.6	1	2	dbSNP_123	147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron	ITGB1BP1	NM_004763.3,NM_022334.3	64,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging,	150/201,	9547660	3,13003	2203	4300	6503	SO:0001583	missense	9270				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	g.chr2:9547660G>A	AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.449C>T	2.37:g.9547660G>A	ENSP00000353850:p.Ala150Val					ITGB1BP1_ENST00000238091.4_Intron|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000488451.1_Intron|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.A150V|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.A150V	p.A150V			O14713	ITBP1_HUMAN		Epithelial(75;0.23)	7	1345	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		150	A -> V (in Ref. 4; AAH12264).		PID.		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	ENST00000360635.3	37	c.449C>T	CCDS1662.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278080	0.95459	4.54E-4	1.16E-4	ENSG00000119185	ENST00000360635;ENST00000355346;ENST00000359712;ENST00000456913	.	.	.	5.61	5.61	0.85477	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	N	0.24115	0.695	0.80722	D	1	D;D;P	0.71674	0.998;0.99;0.944	P;P;P	0.55011	0.766;0.688;0.507	T	0.57159	-0.7859	9	0.36615	T	0.2	-23.8728	20.0086	0.97443	0.0:0.0:1.0:0.0	rs17850889	106;150;150	B4DQY5;A8MPU2;O14713	.;.;ITBP1_HUMAN	V	150	.	ENSP00000347504:A150V	A	-	2	0	ITGB1BP1	9465111	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	6.824000	0.75288	2.808000	0.96608	0.655000	0.94253	GCG		0.483	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314623.2	NM_004763, NM_022334		86	200	0	0	0	1	0	86	200					A	9547660	G	A	9547660	3	1	107	1	0	0	0	0	1	0	0	0	7921	1087	38	1	161	1	ITGB1BP1	2	9547660	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		9547660	233651713	12	35901											
TSPYL6	388951	broad.mit.edu	37	chr2	54482718	54482719	+	Frame_Shift_Ins	INS	-	-	C													ttcaggggcccgggcccgggINScccaggccctgcctccctgt							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:54482718_54482719insC	ENST00000317802.7	-	1	690_691	c.570_571insG	c.(568-573)gggcccfs	p.P191fs	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	191					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CCGGGCCCGGGCCCAGGCCCTG	0.614																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(568-573)ggccggfs		TSPY-like 6																																				SO:0001589	frameshift_variant	388951				nucleosome assembly	nucleus		g.chr2:54482718_54482719insC	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.571dupG	2.37:g.54482721_54482721dupC	ENSP00000417919:p.Pro191fs					ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron	p.R191fs	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	690_691	-			191					Q6NUJ3	Frame_Shift_Ins	INS	ENST00000317802.7	37	c.570_571insG	CCDS42682.1																																																																																				0.614	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		9	249						9	249	---	---	---	---	C	54482719	-	C	54482718	7	5	107	1	0	1	1	0	0	0	0	0	16716	1203	42	0	665	0	TSPYL6	2	54482718	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	44935058	54482718	188716655	13	35902											
SLC1A4	6509	broad.mit.edu	37	chr2	65245311	65245311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccaccgtgaacatggacGgagcagccatcttccagtgt	13	12	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:65245311G>A	ENST00000234256.3	+	6	1384	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	381					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GAACATGGACGGAGCAGCCAT	0.512																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(1141-1143)Gga>Aga		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						133	123	126					2																	65245311		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65245311G>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1141G>A	2.37:g.65245311G>A	ENSP00000234256:p.Gly381Arg					SLC1A4_ENST00000531327.1_Missense_Mutation_p.G83R	p.G381R	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			6	1384	+			381					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.1141G>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	G	35	5.576656	0.96565	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	D;D	0.84370	-1.84;-1.84	6.17	6.17	0.99709	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96122	0.8736	H	0.98664	4.295	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	0.96776	0.9572	9	.	.	.	-12.7631	20.8794	0.99867	0.0:0.0:1.0:0.0	.	381;83;381	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	R	83;301;381	ENSP00000431942:G83R;ENSP00000234256:G381R	.	G	+	1	0	SLC1A4	65098815	1.000000	0.71417	0.283000	0.24790	0.980000	0.70556	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA		0.512	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		5	353	0	0	0	1	0	5	353					A	65245311	G	A	65245311	3	1	107	1	0	0	0	0	1	0	0	0	14484	1117	39	1	1163	1	SLC1A4	2	65245311	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	10762593	65245311	177954062	14	35903											
RGPD5	727851	broad.mit.edu	37	chr2	113181886	113181887	+	Splice_Site	INS	-	-	A													gaatcctttcattgacttctINSaaaaaaaaattaaaagttgt					rs375647001	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	8	637						8	637	---	---	---	---	A	113181887	-	A	113181886	8	5	107	1	0	1	1	0	0	0	1	0	13339	1536	53	0	16328	0	RGPD5	2	113181886	Splice_Site	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	47936575	113181886	130017487	15	35904											
MARCH7	64844	broad.mit.edu	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-													gcttctagcatgtcatctacTtttttttcacgaagatctag							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(877-879)acfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							63	64	64					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160604680delT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs					MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	p.T293fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1001	+			293			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	c.879delT	CCDS2210.1																																																																																				0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		8	482						8	482	---	---	---	---	-	160604680	T	-	160604680	7	5	107	1	0	1	0	1	0	0	0	0	9347	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	47422794	160604680	82594693	16	35905											
TTN	7273	broad.mit.edu	37	chr2	179410378	179410378	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgatgatatgctctttgCcagtcccaacttcttcaggt	8	10	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:179410378C>T	ENST00000591111.1	-	294	90760	c.90536G>A	c.(90535-90537)gGc>gAc	p.G30179D	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G31820D|TTN-AS1_ENST00000590040.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30179	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTCTTTGCCAGTCCCAAC	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95458-95460)gGc>gAc		titin							195	186	189					2																	179410378		1960	4155	6115	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410378C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90536G>A	2.37:g.179410378C>T	ENSP00000465570:p.Gly30179Asp					TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22880D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G30179D|TTN_ENST00000342992.6_Missense_Mutation_p.G29252D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22947D|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22755D|TTN-AS1_ENST00000586707.1_RNA	p.G31820D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		344	95683	-			30179			Fibronectin type-III 131.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95459G>A		.	.	.	.	.	.	.	.	.	.	C	18.40	3.615238	0.66672	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.82	5.82	0.92795	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64034	0.2562	N	0.25957	0.775	0.53005	D	0.999965	D;D;D;D	0.60160	0.987;0.987;0.987;0.987	P;P;P;P	0.58620	0.842;0.842;0.842;0.842	T	0.66787	-0.5835	9	0.87932	D	0	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	22755;22880;22947;30179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	29252;22755;22947;22880;22752	ENSP00000343764:G29252D;ENSP00000434586:G22755D;ENSP00000340554:G22947D;ENSP00000352154:G22880D	ENSP00000340554:G22947D	G	-	2	0	TTN	179118624	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.089000	0.71384	2.756000	0.94617	0.563000	0.77884	GGC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	832	0	0	0	1	0	7	832					T	179410378	C	T	179410378	3	4	107	1	0	0	0	0	1	0	0	0	16789	739	26	2	12596	2	TTN	2	179410378	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	18805698	179410378	63788995	17	35906											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs|ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	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.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000439802.1_3'UTR|ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		11	402						11	402	---	---	---	---	-	202352352	T	-	202352352	7	5	107	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	22941974	202352352	40847021	18	35907											
UGT1A10	54575	broad.mit.edu	37	chr2	234545526	234545526	+	Frame_Shift_Del	DEL	T	T	-													ccagtggttttcttgacttaTttttttcgcattgcaggagt							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr2:234545526delT	ENST00000344644.5	+	1	427	c.358delT	c.(358-360)tttfs	p.F121fs	UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	121					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)	TCTTGACTTATTTTTTTCGCA	0.373																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(358-360)ttfs									103	111	109					2																	234545526		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234545526delT	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.358delT	2.37:g.234545526delT	ENSP00000343838:p.Phe121fs					UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A8_ENST00000373450.4_Intron	p.F121fs	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	427	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Frame_Shift_Del	DEL	ENST00000344644.5	37	c.358delT	CCDS33403.1																																																																																				0.373	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		7	835						7	835	---	---	---	---	-	234545526	T	-	234545526	7	5	107	1	0	1	0	1	0	0	0	0	16999	1493	52	0	360	0	UGT1A10	2	234545526	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	32193174	234545526	8653847	19	35908											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_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																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		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					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		11	253						11	253	---	---	---	---	-	49094316	TGC	-	49094314	7	5	107	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-Q3-AA2A-01A-11D-A377-08		49094314	148928116	20	35909											
CNTN3	5067	broad.mit.edu	37	chr3	74344358	74344358	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaagataggctatttgCagagacttgagatggggcca	15	5	0	4			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:74344358C>T	ENST00000263665.6	-	18	2458	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	811	Fibronectin type-III 3. {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)		AGGCTATTTGCAGAGACTTGA	0.383																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(2431-2433)Gca>Aca		contactin 3 (plasmacytoma associated)							98	91	94					3																	74344358		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74344358C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2431G>A	3.37:g.74344358C>T	ENSP00000263665:p.Ala811Thr						p.A811T	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	18	2458	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	811			Fibronectin type-III 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2431G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619386	0.87460	.	.	ENSG00000113805	ENST00000263665	T	0.60299	0.2	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.176408	0.50627	D	0.000108	T	0.62196	0.2408	M	0.63843	1.955	0.51233	D	0.999919	B	0.27166	0.17	B	0.37692	0.256	T	0.62863	-0.6764	10	0.59425	D	0.04	.	14.528	0.67902	0.1464:0.8535:0.0:0.0	.	811	Q9P232	CNTN3_HUMAN	T	811	ENSP00000263665:A811T	ENSP00000263665:A811T	A	-	1	0	CNTN3	74427048	1.000000	0.71417	0.435000	0.26784	0.996000	0.88848	5.357000	0.66058	2.649000	0.89929	0.650000	0.86243	GCA		0.383	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		89	242	0	0	0	1	0	89	242					T	74344358	C	T	74344358	3	4	107	1	0	0	0	0	1	0	0	0	3651	710	25	2	675	2	CNTN3	3	74344358	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	25250044	74344358	123678072	21	35910											
GABRR3	200959	broad.mit.edu	37	chr3	97744480	97744480	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcatatttctgaggccGcgctttggtactgtcatctt	9	10	4	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:97744480G>A	ENST00000472788.1	-	0	170					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTCTGAGGCCGCGCTTTGGTA	0.383																																						ENST00000472788.1																			0				large_intestine(2)|lung(1)	3								gamma-aminobutyric acid (GABA) A receptor, rho 3							165	156	159					3																	97744480		1839	4090	5929			200959				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr3:97744480G>A	Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	17969	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 3"		"gamma-aminobutyric acid (GABA) receptor, rho 3", "gamma-aminobutyric acid (GABA) A receptor, rho 3"			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97744480G>A								NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN			0	170	-								Q9UIV9	RNA	SNP	ENST00000472788.1	37																																																																																						0.383	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000353445.2			41	118	0	0	0	1	0	41	118					A	97744480	G	A	97744480	1	1	107	0	1	0	0	0	0	0	0	0	6205	1086	38	1		1	GABRR3	3	97744480	RNA	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	23400122	97744480	100277950	22	35911											
UROC1	131669	broad.mit.edu	37	chr3	126218205	126218205	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgctgcacataggaagGgtagcggaactctgtcctgc	14	9	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr3:126218205G>T	ENST00000290868.2	-	13	1344	c.1291C>A	c.(1291-1293)Cct>Act	p.P431T	UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	431					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)		ACATAGGAAGGGTAGCGGAAC	0.627																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1291-1293)Cct>Act		urocanate hydratase 1							114	75	88					3																	126218205		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126218205G>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"urocanase 1"	613012	"urocanase domain containing 1"			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1291C>A	3.37:g.126218205G>T	ENSP00000290868:p.Pro431Thr					UROC1_ENST00000383579.3_Missense_Mutation_p.P491T	p.P431T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	13	1344	-			431					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1291C>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583912	0.65992	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.64438	-0.1;-0.1	4.89	4.89	0.63831	Urocanase domain (2);	0.000000	0.85682	D	0.000000	D	0.85371	0.5681	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90105	0.4187	10	0.72032	D	0.01	0.5184	15.5628	0.76262	0.0:0.0:1.0:0.0	.	491;431	E9PE13;Q96N76	.;HUTU_HUMAN	T	431;491	ENSP00000290868:P431T;ENSP00000373073:P491T	ENSP00000290868:P431T	P	-	1	0	UROC1	127700895	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.216000	0.95154	2.262000	0.75019	0.585000	0.79938	CCT		0.627	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		27	105	1	0	3.73148e-12	1	3.96915e-12	27	105					T	126218205	G	T	126218205	3	4	107	1	0	0	0	0	1	0	0	0	17082	1232	43	3	771	3	UROC1	3	126218205	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	28473725	126218205	71804225	23	35912											
HGFAC	3083	broad.mit.edu	37	chr4	3449269	3449269	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggccagcacttcttcaaccGcacgacggacgtgacgcaga	12	14	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:3449269G>A	ENST00000382774.3	+	11	1521	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	469	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)		TTCTTCAACCGCACGACGGAC	0.662																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(1405-1407)cGc>cAc		HGF activator							168	147	154					4																	3449269		2203	4300	6503	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449269G>A	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.1406G>A	4.37:g.3449269G>A	ENSP00000372224:p.Arg469His					HGFAC_ENST00000511533.1_Missense_Mutation_p.R476H	p.R469H	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1521	+			469			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1406G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726303	0.30593	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.88818	-2.43;-2.43	3.59	-4.04	0.04010	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.403240	0.04595	N	0.397497	T	0.74943	0.3783	N	0.16098	0.37	0.09310	N	1	P;B	0.48589	0.912;0.147	B;B	0.41691	0.364;0.058	T	0.68401	-0.5418	10	0.36615	T	0.2	.	0.6507	0.00826	0.3713:0.1218:0.2609:0.2459	.	476;469	D6RAR4;Q04756	.;HGFA_HUMAN	H	469;476	ENSP00000372224:R469H;ENSP00000421801:R476H	ENSP00000372224:R469H	R	+	2	0	HGFAC	3419067	0.000000	0.05858	0.008000	0.14137	0.772000	0.43724	-1.195000	0.03043	-0.717000	0.04955	0.561000	0.74099	CGC		0.662	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			6	896	0	0	0	1	0	6	896					A	3449269	G	A	3449269	3	1	107	1	0	0	0	0	1	0	0	0	7116	1087	38	1	1448	1	HGFAC	4	3449269	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		3449269	187705007	24	35913											
C4orf50	389197	broad.mit.edu	37	chr4	5969155	5969155	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgacctcttaaagctgccGtcatctcagacttgacgtcc	7	14	3	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:5969155G>A	ENST00000324058.5	-	5	532	c.443C>T	c.(442-444)aCg>aTg	p.T148M	C4orf50_ENST00000531445.1_Missense_Mutation_p.T622M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	148										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TAAAGCTGCCGTCATCTCAGA	0.532																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.(1864-1866)aCg>aTg		chromosome 4 open reading frame 50							147	128	135					4																	5969155		2203	4300	6503	SO:0001583	missense	389197							g.chr4:5969155G>A	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.443C>T	4.37:g.5969155G>A	ENSP00000317287:p.Thr148Met					C4orf50_ENST00000324058.5_Missense_Mutation_p.T148M	p.T622M			Q6ZRC1	CD050_HUMAN			5	1911	-			148						Missense_Mutation	SNP	ENST00000324058.5	37	c.1865C>T		.	.	.	.	.	.	.	.	.	.	G	13.64	2.296676	0.40594	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.27720	1.65;1.65	2.99	2.99	0.34606	.	0.665167	0.13125	N	0.411927	T	0.47340	0.1440	L	0.56769	1.78	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.17289	-1.0374	10	0.72032	D	0.01	-2.3166	9.7214	0.40306	0.0:0.0:1.0:0.0	.	148	Q6ZRC1	CD050_HUMAN	M	622;148	ENSP00000437121:T622M;ENSP00000317287:T148M	ENSP00000317287:T148M	T	-	2	0	C4orf50	6020056	0.002000	0.14202	0.003000	0.11579	0.140000	0.21249	1.108000	0.31123	1.992000	0.58205	0.655000	0.94253	ACG		0.532	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		12	458	0	0	0	1	0	12	458					A	5969155	G	A	5969155	3	1	107	1	0	0	0	0	1	0	0	0	2283	1145	40	1	399	1	C4orf50	4	5969155	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	2519886	5969155	185185121	25	35914											
BMP3	651	broad.mit.edu	37	chr4	81967241	81967241	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcataggatttaacattacGtccaagggacgccagctgcc	9	12	1	0	rs370315521		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:81967241G>A	ENST00000282701.2	+	2	986	c.666G>A	c.(664-666)acG>acA	p.T222T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	222			T -> M (in dbSNP:rs34505126).		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						TTAACATTACGTCCAAGGGAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20604	0.0		0.001	False		,,,				2504	0.0					ENST00000282701.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(664-666)acG>acA		bone morphogenetic protein 3		G		0,4406		0,0,2203	117	125	122		666	-2.1	0.2	4		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BMP3	NM_001201.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		222/473	81967241	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967241G>A	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.666G>A	4.37:g.81967241G>A							p.T222T	NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN			2	986	+			222		T -> M (in dbSNP:rs34505126).			Q4VAS5	Silent	SNP	ENST00000282701.2	37	c.666G>A	CCDS3588.1																																																																																				0.438	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			13	622	0	0	0	1	0	13	622					A	81967241	G	A	81967241	2	1	107	1	0	0	0	0	0	0	0	1	1463	1132	40	1		1	BMP3	4	81967241	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	75998086	81967241	109187035	26	35915											
HERC6	55008	broad.mit.edu	37	chr4	89334269	89334269	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgatctgctcagagctcttcCatgccattctccacaccaag	6	15	4	2	rs528652638		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:89334269C>A	ENST00000264346.7	+	12	1468	c.1409C>A	c.(1408-1410)cCa>cAa	p.P470Q	HERC6_ENST00000380265.5_Missense_Mutation_p.P470Q	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	470					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAGCTCTTCCATGCCATTCT	0.448																																						ENST00000380265.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1408-1410)cCa>cAa		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							248	241	243					4																	89334269		1958	4178	6136	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334269C>A	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1409C>A	4.37:g.89334269C>A	ENSP00000264346:p.Pro470Gln					HERC6_ENST00000264346.7_Missense_Mutation_p.P470Q	p.P470Q	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1592	+		Hepatocellular(203;0.114)	470					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1409C>A	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271412	0.80469	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.38240	1.15;1.16	4.76	2.94	0.34122	.	0.433846	0.21414	N	0.074931	T	0.49047	0.1534	M	0.72894	2.215	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.65987	0.94;0.873	T	0.45804	-0.9236	10	0.19147	T	0.46	.	6.9105	0.24333	0.1722:0.7356:0.0:0.0922	.	470;470	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	Q	470	ENSP00000369617:P470Q;ENSP00000264346:P470Q	ENSP00000264346:P470Q	P	+	2	0	HERC6	89553292	0.942000	0.31987	0.621000	0.29145	0.856000	0.48823	2.288000	0.43514	1.214000	0.43395	0.585000	0.79938	CCA		0.448	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			7	1040	1	0	0.248553	1	0.248553	7	1040					A	89334269	C	A	89334269	3	1	107	1	0	0	0	0	1	0	0	0	7092	594	21	3	1252	3	HERC6	4	89334269	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	7367028	89334269	101820007	27	35916											
SMARCAD1	56916	broad.mit.edu	37	chr4	95198287	95198287	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtagtagcaccagtgaaataCgaagaatgttttcctctaag	9	7	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:95198287C>T	ENST00000354268.4	+	16	2132	c.2059C>T	c.(2059-2061)Cga>Tga	p.R687*	SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R257*|SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	687					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGTGAAATACGAAGAATGTT	0.378																																						ENST00000354268.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2059-2061)Cga>Tga		SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1							171	166	168					4																	95198287		2203	4300	6503	SO:0001587	stop_gained	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95198287C>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2059C>T	4.37:g.95198287C>T	ENSP00000346217:p.Arg687*					SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R687*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R257*	p.R687*			Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	16	2132	+			687					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Nonsense_Mutation	SNP	ENST00000354268.4	37	c.2059C>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	37	6.495917	0.97612	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	.	.	.	5.52	4.6	0.57074	.	0.000000	0.38381	N	0.001702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-9.8402	15.1831	0.72975	0.2325:0.7675:0.0:0.0	.	.	.	.	X	687;687;687;257	.	ENSP00000346217:R687X	R	+	1	2	SMARCAD1	95417310	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.153000	0.42282	2.604000	0.88044	0.555000	0.69702	CGA		0.378	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		5	735	0	0	0	1	0	5	735					T	95198287	C	T	95198287	4	4	107	1	0	0	0	0	0	1	0	0	14822	528	19	1	2117	1	SMARCAD1	4	95198287	Nonsense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	5864018	95198287	95955989	28	35917											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		13	421						13	421	---	---	---	---	-	146077125	CAG	-	146077123	7	5	107	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-Q3-AA2A-01A-11D-A377-08	50878836	146077123	45077153	29	35918											
OSMR	9180	broad.mit.edu	37	chr5	38881767	38881767	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatctgagctccctttggaaTgtgccacacactttgtaaga	8	10	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:38881767T>C	ENST00000274276.3	+	4	721	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R	OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	107					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)					CCCTTTGGAATGTGCCACACA	0.473																																						ENST00000274276.3																			0				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						c.(319-321)Tgt>Cgt		oncostatin M receptor							113	109	110					5																	38881767		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38881767T>C	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.319T>C	5.37:g.38881767T>C	ENSP00000274276:p.Cys107Arg					OSMR_ENST00000502536.1_Missense_Mutation_p.C107R	p.C107R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			4	721	+	all_lung(31;0.000365)		107					Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.319T>C	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215522	0.58452	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	.	0.098018	0.85682	D	0.000000	T	0.77948	0.4207	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80571	-0.1323	10	0.87932	D	0	.	12.5437	0.56186	0.0:0.0:0.0:1.0	.	107;107	Q99650;Q99650-2	OSMR_HUMAN;.	R	107	ENSP00000422023:C107R;ENSP00000274276:C107R	ENSP00000274276:C107R	C	+	1	0	OSMR	38917524	1.000000	0.71417	0.998000	0.56505	0.409000	0.31022	4.331000	0.59273	2.216000	0.71823	0.533000	0.62120	TGT		0.473	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		105	330	0	0	0	1	0	105	330					C	38881767	T	C	38881767	3	2	107	1	0	0	0	0	1	0	0	0	11334	1464	51	4	329	4	OSMR	5	38881767	Missense_Mutation	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08		38881767	142033493	30	35919											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794655	140794655	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgcgagccctgctggAcagagacgcgctcaagcaaa	13	14	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:140794655A>G	ENST00000398610.2	+	1	1913	c.1913A>G	c.(1912-1914)gAc>gGc	p.D638G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_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|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	638	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)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGCTGGACAGAGACGCG	0.701																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1912-1914)gAc>gGc									49	59	56					5																	140794655		2203	4295	6498	SO:0001583	missense	0							g.chr5:140794655A>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1913A>G	5.37:g.140794655A>G	ENSP00000381611:p.Asp638Gly					PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.D638G	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1913	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.1913A>G	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	a	17.83	3.486542	0.63962	.	.	ENSG00000253846	ENST00000398610	T	0.65178	-0.14	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75882	0.3910	M	0.64404	1.975	0.31302	N	0.688228	D;D	0.59767	0.973;0.986	P;D	0.65573	0.786;0.936	T	0.78705	-0.2100	9	0.72032	D	0.01	.	15.1502	0.72692	1.0:0.0:0.0:0.0	.	638;638	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	G	638	ENSP00000381611:D638G	ENSP00000381611:D638G	D	+	2	0	PCDHGA10	140774839	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	4.721000	0.61951	2.061000	0.61500	0.454000	0.30748	GAC		0.701	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		55	410	0	0	0	1	0	55	410					G	140794655	A	G	140794655	3	3	107	1	0	0	0	0	1	0	0	0	11593	275	10	4	1915	4	PCDHGA10	5	140794655	Missense_Mutation	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08	101912888	140794655	40120605	31	35920											
GALNT10	55568	broad.mit.edu	37	chr5	153760011	153760011	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctcttggcttcttcagaccGcattgctcggaaccgcaaga	9	13	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:153760011G>A	ENST00000297107.6	+	6	895	c.758G>A	c.(757-759)cGc>cAc	p.R253H	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	253	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCTTCAGACCGCATTGCTCGG	0.502																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(757-759)cGc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							180	154	163					5																	153760011		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760011G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.758G>A	5.37:g.153760011G>A	ENSP00000297107:p.Arg253His					GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377661.2_Missense_Mutation_p.R191H|GALNT10_ENST00000425427.2_Missense_Mutation_p.R253H|SAP30L-AS1_ENST00000519727.1_RNA	p.R253H	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	895	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	253			Catalytic subdomain A.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.758G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038191	0.75617	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.61742	0.08;0.08;0.22	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.052285	0.85682	D	0.000000	T	0.70029	0.3177	M	0.67625	2.065	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.997	P;P;P	0.59288	0.855;0.801;0.607	T	0.71487	-0.4578	10	0.51188	T	0.08	.	14.7691	0.69662	0.0:0.1441:0.8559:0.0	.	191;253;253	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	H	253;253;191	ENSP00000415210:R253H;ENSP00000297107:R253H;ENSP00000366889:R191H	ENSP00000297107:R253H	R	+	2	0	GALNT10	153740204	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.457000	0.73505	2.535000	0.85469	0.462000	0.41574	CGC		0.502	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	537	0	0	0	1	0	5	537					A	153760011	G	A	153760011	3	1	107	1	0	0	0	0	1	0	0	0	6236	1087	38	1	780	1	GALNT10	5	153760011	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	12965356	153760011	27155249	32	35921											
BTNL8	79908	broad.mit.edu	37	chr5	180374632	180374633	+	Intron	DEL	GA	GA	-													ctccaaattccagtgtaagcGagagagagaagcatgggccg							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr5:180374632_180374633delGA	ENST00000340184.4	+	4	993				BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000231229.4_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000400707.3_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)cfs		butyrophilin-like 8																																				SO:0001627	intron_variant	79908					integral to membrane		g.chr5:180374632_180374633delGA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+7GA>-	5.37:g.180374640_180374641delGA						BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000511704.1_Intron	p.R265fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1028_1029	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	265					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	c.794_795delGA	CCDS43413.1																																																																																				0.495	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		9	1720						9	1720	---	---	---	---	-	180374633	GA	-	180374632	6	5	107	0	1	1	0	1	0	0	0	0	1571	1058	37	0		0	BTNL8	5	180374632	Intron	DEL	GA	TCGA-Q3-AA2A-01A-11D-A377-08	26614621	180374632	540628	33	35922											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212|rs368069269	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		9	238						9	238	---	---	---	---	-	7393452	GAC	-	7393450	7	5	107	1	0	1	0	1	0	0	0	0	13427	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-Q3-AA2A-01A-11D-A377-08		7393450	163721617	34	35923											
HCRTR2	3062	broad.mit.edu	37	chr6	55039393	55039393	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acttgagcccgtgatgtccgGcaccaaattggaggactccc	11	13	0	2	rs201743993		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:55039393G>A	ENST00000370862.3	+	1	344	c.8G>A	c.(7-9)gGc>gAc	p.G3D		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	3					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)			GTGATGTCCGGCACCAAATTG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15589	0.0		0.0	False		,,,				2504	0.0					ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(7-9)gGc>gAc		hypocretin (orexin) receptor 2							85	81	83					6																	55039393		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039393G>A	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.8G>A	6.37:g.55039393G>A	ENSP00000359899:p.Gly3Asp						p.G3D	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	344	+	Lung NSC(77;0.107)|Renal(3;0.122)		3					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.8G>A	CCDS4956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.10	3.026954	0.54683	.	.	ENSG00000137252	ENST00000370862	T	0.61392	0.11	4.99	4.99	0.66335	.	0.057491	0.64402	D	0.000002	T	0.35740	0.0942	L	0.47716	1.5	0.42876	D	0.994151	P	0.41313	0.745	B	0.31290	0.127	T	0.51076	-0.8751	10	0.72032	D	0.01	.	14.9164	0.70801	0.0:0.1435:0.8565:0.0	.	3	O43614	OX2R_HUMAN	D	3	ENSP00000359899:G3D	ENSP00000359899:G3D	G	+	2	0	HCRTR2	55147352	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.046000	0.49846	2.599000	0.87857	0.563000	0.77884	GGC		0.577	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			5	416	0	0	0	1	0	5	416					A	55039393	G	A	55039393	3	1	107	1	0	0	0	0	1	0	0	0	7032	1203	42	2	10	2	HCRTR2	6	55039393	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	47645943	55039393	116075674	35	35924											
ELOVL4	6785	broad.mit.edu	37	chr6	80635984	80635984	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcactagacgcatctgaaaaGgttctcggtccttcatccat	8	12	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:80635984G>T	ENST00000369816.4	-	2	515	c.215C>A	c.(214-216)cCt>cAt	p.P72H		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	72					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)	CATCTGAAAAGGTTCTCGGTC	0.393																																						ENST00000369816.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(214-216)cCt>cAt		ELOVL fatty acid elongase 4	Alpha-Linolenic Acid(DB00132)						89	77	81					6																	80635984		2203	4300	6503	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80635984G>T	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.215C>A	6.37:g.80635984G>T	ENSP00000358831:p.Pro72His						p.P72H	NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	2	515	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	72					B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.215C>A	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983967	0.93044	.	.	ENSG00000118402	ENST00000369816	T	0.26810	1.71	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78841	-0.2045	10	0.87932	D	0	-9.8818	19.1531	0.93496	0.0:0.0:1.0:0.0	.	72	Q9GZR5	ELOV4_HUMAN	H	72	ENSP00000358831:P72H	ENSP00000358831:P72H	P	-	2	0	ELOVL4	80692703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.753000	0.94483	0.655000	0.94253	CCT		0.393	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			77	267	1	0	1.39159e-27	1	1.53904e-27	77	267					T	80635984	G	T	80635984	3	4	107	1	0	0	0	0	1	0	0	0	5094	1000	35	3	749	3	ELOVL4	6	80635984	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	25596591	80635984	90479083	36	35925											
VTA1	51534	broad.mit.edu	37	chr6	142487422	142487422	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtaaaactcctgaatgtcGcaaatttttatcaaagttaa	5	6	1	1	rs542577369	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr6:142487422G>A	ENST00000367630.4	+	2	228	c.170G>A	c.(169-171)cGc>cAc	p.R57H	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	57	Interaction with CHMP5.|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)		CCTGAATGTCGCAAATTTTTA	0.299													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14800	0.0		0.0	False		,,,				2504	0.0					ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(169-171)cGc>cAc		vesicle (multivesicular body) trafficking 1							109	112	111					6																	142487422		2203	4299	6502	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142487422G>A	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.170G>A	6.37:g.142487422G>A	ENSP00000356602:p.Arg57His					VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	p.R57H	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	2	228	+	Breast(32;0.155)		57			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.170G>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052045	0.93793	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.46063	0.88	5.55	5.55	0.83447	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.65344	-0.6191	10	0.44086	T	0.13	-13.33	19.4973	0.95079	0.0:0.0:1.0:0.0	.	57	Q9NP79	VTA1_HUMAN	H	57;58	ENSP00000356602:R57H	ENSP00000356602:R57H	R	+	2	0	VTA1	142529115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.609000	0.90898	2.597000	0.87782	0.655000	0.94253	CGC		0.299	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		6	588	0	0	0	1	0	6	588					A	142487422	G	A	142487422	3	1	107	1	0	0	0	0	1	0	0	0	17287	1087	38	1	176	1	VTA1	6	142487422	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	61851438	142487422	28627645	37	35926											
ZFAND2A	90637	broad.mit.edu	37	chr7	1195155	1195155	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaccaaccaccacgtcTggtatctggcccttttttac	6	14	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:1195155T>A	ENST00000316495.3	-	4	475	c.216A>T	c.(214-216)ccA>ccT	p.P72P	ZFAND2A_ENST00000401903.1_Silent_p.P72P	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	72					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCACCACGTCTGGTATCTGGC	0.483																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.(214-216)ccA>ccT		zinc finger, AN1-type domain 2A							181	169	173					7																	1195155		2203	4300	6503	SO:0001819	synonymous_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1195155T>A	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"Zinc fingers, AN1-type domain containing"	28073	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein"	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.216A>T	7.37:g.1195155T>A						ZFAND2A_ENST00000316495.3_Silent_p.P72P	p.P72P			Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	4	475	-		Ovarian(82;0.11)	72					A4D220	Silent	SNP	ENST00000316495.3	37	c.216A>T	CCDS5323.1																																																																																				0.483	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		138	491	0	0	0	1	0	138	491					A	1195155	T	A	1195155	2	1	107	1	0	0	0	0	0	0	0	1	17680	1567	55	5		5	ZFAND2A	7	1195155	Silent	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08		1195155	157943508	38	35927											
KRIT1	889	broad.mit.edu	37	chr7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actggattcactacagactcGcataatatcttgtaagcagt	7	9	2	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:91865794G>A	ENST00000340022.2	-	7	1436	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318																																						ENST00000394507.1																			1	Substitution - Nonsense(1)	p.R140*(1)	large_intestine(1)	autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22						c.(418-420)Cga>Tga		KRIT1, ankyrin repeat containing							99	104	102					7																	91865794		2203	4299	6502	SO:0001587	stop_gained	889				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91865794G>A	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.418C>T	7.37:g.91865794G>A	ENSP00000344668:p.Arg140*					KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*	p.R140*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	1201	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		140					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	ENST00000340022.2	37	c.418C>T	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	G	38	7.271354	0.98179	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7004	15.7344	0.77831	0.0:0.0:0.2068:0.7932	.	.	.	.	X	140	.	ENSP00000344668:R140X	R	-	1	2	KRIT1	91703730	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.282000	0.33226	0.065000	0.16485	-0.238000	0.12139	CGA		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			100	224	0	0	0	1	0	100	224					A	91865794	G	A	91865794	4	1	107	1	0	0	0	0	0	1	0	0	8475	1095	38	1	1844	1	KRIT1	7	91865794	Nonsense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	90670639	91865794	67272869	39	35928											
GPC2	221914	broad.mit.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-													gcagggcataagtgaggggaCcccccggcacaggggacagc							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	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																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84	94	90					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	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					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		7	883						7	883	---	---	---	---	-	99771554	C	-	99771554	7	5	107	1	0	1	0	1	0	0	0	0	6627	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-Q3-AA2A-01A-11D-A377-08	7905760	99771554	59367109	40	35929											
MOSPD3	64598	broad.mit.edu	37	chr7	100211247	100211247	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagcgtacccccttgaGcttcagggacagccagatcc	10	17	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100211247G>A	ENST00000393950.2	+	3	711	c.429G>A	c.(427-429)gaG>gaA	p.E143E	MOSPD3_ENST00000223054.4_Silent_p.E143E|MOSPD3_ENST00000379527.2_Silent_p.E143E|MOSPD3_ENST00000424091.2_Silent_p.E133E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	143	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)					ACCCCCTTGAGCTTCAGGGAC	0.637																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(427-429)gaG>gaA		motile sperm domain containing 3							57	54	55					7																	100211247		2203	4300	6503	SO:0001819	synonymous_variant	64598					integral to membrane	structural molecule activity	g.chr7:100211247G>A	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.429G>A	7.37:g.100211247G>A						MOSPD3_ENST00000379527.2_Silent_p.E143E|MOSPD3_ENST00000424091.2_Silent_p.E133E|MOSPD3_ENST00000223054.4_Silent_p.E143E	p.E143E	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			3	711	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		143			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Silent	SNP	ENST00000393950.2	37	c.429G>A	CCDS5701.1																																																																																				0.637	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		20	291	0	0	0	1	0	20	291					A	100211247	G	A	100211247	2	1	107	1	0	0	0	0	0	0	0	1	9758	962	34	2		2	MOSPD3	7	100211247	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	439693	100211247	58927416	41	35930											
MUC17	140453	broad.mit.edu	37	chr7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccacgccagtggccaTtcctgaggctagcacccttt	9	16	0	1	rs145514577		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAGTGGCCATTCCTGAGGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		25521	0.0		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9178-9180)aTt>aGt		mucin 17, cell surface associated							275	283	280					7																	100683876		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683876T>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9179T>G	7.37:g.100683876T>G	ENSP00000302716:p.Ile3060Ser						p.I3060S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9243	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3060			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9179T>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.327	-0.958208	0.02267	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.814	-0.258	0.12975	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.48681	-0.9014	9	0.17369	T	0.5	.	3.7091	0.08413	0.0:0.5408:0.2591:0.2001	.	3060	Q685J3	MUC17_HUMAN	S	3060	ENSP00000302716:I3060S	ENSP00000302716:I3060S	I	+	2	0	MUC17	100470596	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.610000	0.00209	-0.661000	0.05345	-2.058000	0.00401	ATT		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	771	0	0	0	1	0	8	771					G	100683876	T	G	100683876	3	3	107	1	0	0	0	0	1	0	0	0	10015	1493	52	4	9189	4	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08	472629	100683876	58454787	42	35931											
FOXP2	93986	broad.mit.edu	37	chr7	114294032	114294032	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgacccacttgcacatgCgaccctcagagcccaaacca	7	16	1	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr7:114294032C>T	ENST00000393494.2	+	10	1513	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	FOXP2_ENST00000360232.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R391*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.R436*|FOXP2_ENST00000393500.3_Nonsense_Mutation_p.R337*|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R429*|FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R437*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.R320*			O15409	FOXP2_HUMAN	forkhead box P2	412					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						CTTGCACATGCGACCCTCAGA	0.398																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(1009-1011)Cga>Tga		forkhead box P2							186	172	176					7																	114294032		2203	4300	6503	SO:0001587	stop_gained	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114294032C>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1234C>T	7.37:g.114294032C>T	ENSP00000377132:p.Arg412*					FOXP2_ENST00000350908.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.R437*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.R391*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.R436*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.R412*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.R320*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.R412*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.R429*	p.R337*			O15409	FOXP2_HUMAN			16	1829	+			412					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	c.1009C>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346324	0.95807	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	337;412;437;429;412;389;320;412;436;320	.	ENSP00000265436:R412X	R	+	1	2	FOXP2	114081268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.793000	0.55484	2.937000	0.99478	0.650000	0.86243	CGA		0.398	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		6	932	0	0	0	1	0	6	932					T	114294032	C	T	114294032	4	4	107	1	0	0	0	0	0	1	0	0	6054	760	27	1	1402	1	FOXP2	7	114294032	Nonsense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	13610156	114294032	44844631	43	35932											
CSMD1	64478	broad.mit.edu	37	chr8	2820823	2820823	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgagagagctggtaaccGtccatgcagctgtaacttat	12	8	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:2820823G>A	ENST00000520002.1	-	61	9933	c.9378C>T	c.(9376-9378)gaC>gaT	p.D3126D	CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602557.1_Silent_p.D3126D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3126	Sushi 25. {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)		GCTGGTAACCGTCCATGCAGC	0.562																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(9376-9378)gaC>gaT		CUB and Sushi multiple domains 1							107	116	113					8																	2820823		1971	4163	6134	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2820823G>A			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.9378C>T	8.37:g.2820823G>A						CSMD1_ENST00000537824.1_Silent_p.D3125D|CSMD1_ENST00000542608.1_Silent_p.D2948D|CSMD1_ENST00000602723.1_Silent_p.D2949D|CSMD1_ENST00000400186.3_Silent_p.D2949D|CSMD1_ENST00000602557.1_Silent_p.D3126D	p.D3126D			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9933	-		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)	3126			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.9378C>T		.	.	.	.	.	.	.	.	.	.	G	0.254	-1.004364	0.02112	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.69	-2.77	0.05877	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	0.4751	0.00538	0.3679:0.2388:0.1773:0.216	.	.	.	.	W	2543	.	.	R	-	1	2	CSMD1	2808230	0.000000	0.05858	0.047000	0.18901	0.110000	0.19582	-1.200000	0.03029	-0.162000	0.10964	-0.136000	0.14681	CGG		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	585	0	0	0	1	0	5	585					A	2820823	G	A	2820823	2	1	107	1	0	0	0	0	0	0	0	1	3955	1136	40	1		1	CSMD1	8	2820823	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		2820823	143543199	44	35933											
IDO1	3620	broad.mit.edu	37	chr8	39775722	39775722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggtcatggagatgtccGtaaggtttggagattttctc	12	6	2	2	rs200244502		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:39775722G>A	ENST00000518237.1	+	3	938	c.299G>A	c.(298-300)cGt>cAt	p.R100H	IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	100					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)	GGAGATGTCCGTAAGGTTTGG	0.393																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(298-300)cGt>cAt		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)	G	HIS/ARG	0,3838		0,0,1919	117	110	112		299	1.4	0	8		112	1,8277		0,1,4138	yes	missense	IDO1	NM_002164.5	29	0,1,6057	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	100/404	39775722	1,12115	1919	4139	6058	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775722G>A	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.299G>A	8.37:g.39775722G>A	ENSP00000430950:p.Arg100His					RP11-44K6.4_ENST00000522970.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.R100H|RP11-44K6.3_ENST00000517623.1_RNA	p.R100H	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			3	938	+			100					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.299G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420693	0.42918	0.0	1.21E-4	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.45276	0.9;0.9;0.9	5.65	1.44	0.22558	.	0.907386	0.09317	N	0.818769	T	0.43255	0.1239	M	0.79475	2.455	0.09310	N	1	D	0.54047	0.964	P	0.45377	0.478	T	0.44360	-0.9333	9	.	.	.	-1.485	1.7288	0.02928	0.1757:0.2276:0.4465:0.1502	.	100	P14902	I23O1_HUMAN	H	100	ENSP00000428716:R100H;ENSP00000430505:R100H;ENSP00000430950:R100H	.	R	+	2	0	IDO1	39894879	0.000000	0.05858	0.003000	0.11579	0.237000	0.25408	0.234000	0.17930	0.751000	0.32900	0.585000	0.79938	CGT		0.393	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		5	380	0	0	0	1	0	5	380					A	39775722	G	A	39775722	3	1	107	1	0	0	0	0	1	0	0	0	7531	1145	40	1	309	1	IDO1	8	39775722	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	36954899	39775722	106588300	45	35934											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744099	70744099	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccattccaatgagaatctgCgcgcaaatgaataaagccac	7	12	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr8:70744099C>T	ENST00000260126.4	-	2	1516	c.810G>A	c.(808-810)gcG>gcA	p.A270A	SLCO5A1_ENST00000524945.1_Silent_p.A270A|SLCO5A1_ENST00000530307.1_Silent_p.A270A|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A270A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGAGAATCTGCGCGCAAATGA	0.502																																						ENST00000260126.3																			1	Substitution - coding silent(1)	p.A270A(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(808-810)gcG>gcA		solute carrier organic anion transporter family, member 5A1							104	105	105					8																	70744099		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744099C>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.810G>A	8.37:g.70744099C>T						SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.A270A|SLCO5A1_ENST00000530307.1_Silent_p.A270A	p.A270A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1516	-	Breast(64;0.0654)		270					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.810G>A	CCDS6205.1																																																																																				0.502	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		7	396	0	0	0	1	0	7	396					T	70744099	C	T	70744099	2	4	107	1	0	0	0	0	0	0	0	1	14781	755	27	1		1	SLCO5A1	8	70744099	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	30968377	70744099	75619923	46	35935											
C9orf24	84688	broad.mit.edu	37	chr9	34381380	34381380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttaccgtaggcattgagCcgctccggcctaggagggca	13	12	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:34381380C>T	ENST00000297623.2	-	4	657	c.459G>A	c.(457-459)cgG>cgA	p.R153R	C9orf24_ENST00000481295.1_5'Flank|C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24	153					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)		AGGCATTGAGCCGCTCCGGCC	0.612																																						ENST00000297623.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(457-459)cgG>cgA		chromosome 9 open reading frame 24							148	131	137					9																	34381380		2203	4300	6503	SO:0001819	synonymous_variant	84688							g.chr9:34381380C>T	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.459G>A	9.37:g.34381380C>T						C9orf24_ENST00000379124.1_Silent_p.R18R|C9orf24_ENST00000379127.1_Silent_p.R18R|C9orf24_ENST00000379133.3_Silent_p.R18R|C9orf24_ENST00000379126.3_Silent_p.R18R	p.R153R	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)	4	657	-			153					Q5T598|Q5T599|Q5T5A0|Q8N9G4|Q96KD1|Q96LN1	Silent	SNP	ENST00000297623.2	37	c.459G>A	CCDS6554.1																																																																																				0.612	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	NM_147169		5	554	0	0	0	1	0	5	554					T	34381380	C	T	34381380	2	4	107	1	0	0	0	0	0	0	0	1	2482	726	26	2		2	C9orf24	9	34381380	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		34381380	106832051	47	35936											
MELK	9833	broad.mit.edu	37	chr9	36589550	36589550	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cagagtgatttgccccggatCaaaacggagattgaggcctt	12	9	1	4			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:36589550C>A	ENST00000298048.2	+	4	346	c.162C>A	c.(160-162)atC>atA	p.I54I	MELK_ENST00000538311.1_5'UTR|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000541717.1_Silent_p.I54I|MELK_ENST00000536329.1_Intron|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000543751.1_Silent_p.I22I|MELK_ENST00000536860.1_Silent_p.I54I|MELK_ENST00000545008.1_Silent_p.I54I	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	54	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			TGCCCCGGATCAAAACGGAGA	0.403																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(64-66)atC>atA		maternal embryonic leucine zipper kinase							172	156	161					9																	36589550		2203	4300	6503	SO:0001819	synonymous_variant	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36589550C>A	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.162C>A	9.37:g.36589550C>A						MELK_ENST00000298048.2_Silent_p.I54I|MELK_ENST00000536987.1_5'UTR|MELK_ENST00000536329.1_Intron|MELK_ENST00000536860.1_Silent_p.I54I|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000545008.1_Silent_p.I54I|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000541717.1_Silent_p.I54I	p.I22I	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		3	211	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	54			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	c.66C>A	CCDS6606.1																																																																																				0.403	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		6	493	1	0	4.096e-09	1	4.32932e-09	6	493					A	36589550	C	A	36589550	2	1	107	1	0	0	0	0	0	0	0	1	9511	816	29	3		3	MELK	9	36589550	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	2208170	36589550	104623881	48	35937											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		7	952	0	0	0	1	0	7	952					T	70871889	C	T	70871889	2	4	107	1	0	0	0	0	0	0	0	1	2721	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	34282339	70871889	70341542	49	35938											
FAM13C	220965	broad.mit.edu	37	chr10	61028449	61028449	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgtgaagaactccgcGgcctgcagtgattacaagga	13	10	0	3	rs138913406	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:61028449G>A	ENST00000373868.2	-	8	893	c.806C>T	c.(805-807)cCg>cTg	p.P269L	FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000373867.3_Missense_Mutation_p.P186L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	269										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						AGAACTCCGCGGCCTGCAGTG	0.493													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17659	0.0		0.0	False		,,,				2504	0.0					ENST00000373867.3																			0				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						c.(556-558)cCg>cTg		family with sequence similarity 13, member C		G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	7,4399	12.9+/-30.5	0,7,2196	41	39	40		806,557,557,806	6	1	10	dbSNP_134	40	0,8600		0,0,4300	yes	missense,missense,missense,missense	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	98,98,98,98	0,7,6496	AA,AG,GG		0.0,0.1589,0.0538	benign,benign,benign,benign	269/488,186/503,186/502,269/586	61028449	7,12999	2203	4300	6503	SO:0001583	missense	220965							g.chr10:61028449G>A	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.806C>T	10.37:g.61028449G>A	ENSP00000362975:p.Pro269Leu					FAM13C_ENST00000373868.2_Missense_Mutation_p.P269L|FAM13C_ENST00000468840.2_Missense_Mutation_p.P186L|FAM13C_ENST00000435852.2_Missense_Mutation_p.P269L|FAM13C_ENST00000422313.2_Missense_Mutation_p.P269L|FAM13C_ENST00000442566.3_Missense_Mutation_p.P290L|FAM13C_ENST00000277705.6_Missense_Mutation_p.P290L|FAM13C_ENST00000419214.2_Missense_Mutation_p.P269L	p.P186L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			9	1022	-			269					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.557C>T	CCDS7255.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.53	2.563159	0.45694	0.001589	0.0	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;0.9;-0.96;-0.96;-0.96;-0.96	6.04	6.04	0.98038	.	0.142017	0.49916	N	0.000133	T	0.77618	0.4157	L	0.39147	1.195	0.80722	D	1	P;B;B;D;B	0.67145	0.487;0.018;0.296;0.996;0.347	B;B;B;P;B	0.53861	0.13;0.018;0.087;0.736;0.083	T	0.72347	-0.4321	10	0.27082	T	0.32	-3.6719	20.5891	0.99427	0.0:0.0:1.0:0.0	.	269;186;269;269;269	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	186;269;290;290;269;186;269;269;47	ENSP00000362974:P186L;ENSP00000362975:P269L;ENSP00000395661:P290L;ENSP00000277705:P290L;ENSP00000391993:P269L;ENSP00000423896:P186L;ENSP00000392302:P269L;ENSP00000400241:P269L;ENSP00000445068:P47L	ENSP00000277705:P290L	P	-	2	0	FAM13C	60698455	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	3.913000	0.56394	2.876000	0.98609	0.650000	0.86243	CCG		0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			50	181	0	0	0	1	0	50	181					A	61028449	G	A	61028449	3	1	107	1	0	0	0	0	1	0	0	0	5475	1116	39	1	979	1	FAM13C	10	61028449	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		61028449	74506298	50	35939											
PPP1R3C	5507	broad.mit.edu	37	chr10	93389892	93389892	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttctataattctgaccatcaTtgttgtcccaaaagacttgc	5	10	3	2	rs373998228		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:93389892T>C	ENST00000238994.5	-	2	830	c.746A>G	c.(745-747)aAt>aGt	p.N249S		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				CTGACCATCATTGTTGTCCCA	0.453																																						ENST00000238994.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(745-747)aAt>aGt		protein phosphatase 1, regulatory subunit 3C							105	94	98					10																	93389892		2203	4300	6503	SO:0001583	missense	5507						protein serine/threonine phosphatase activity	g.chr10:93389892T>C	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9293	protein-coding gene	gene with protein product	"Phosphatase 1, regulatory inhibitor subunit 5", "protein targeting to glycogen"	602999	"protein phosphatase 1, regulatory (inhibitor) subunit 3C"	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.746A>G	10.37:g.93389892T>C	ENSP00000238994:p.Asn249Ser						p.N249S	NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN			2	830	-		Colorectal(252;0.235)	249			CBM21.|Interaction with EPM2A.			Missense_Mutation	SNP	ENST00000238994.5	37	c.746A>G	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.270056	0.59540	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.76316	-1.01	5.73	3.31	0.37934	Putative phosphatase regulatory subunit (2);	0.049016	0.85682	D	0.000000	D	0.90689	0.7079	H	0.97491	4.015	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.90361	0.4373	10	0.87932	D	0	-21.2088	8.006	0.30325	0.121:0.0672:0.0:0.8117	.	249	Q9UQK1	PPR3C_HUMAN	S	249;229;131	ENSP00000238994:N249S	ENSP00000238994:N249S	N	-	2	0	PPP1R3C	93379872	1.000000	0.71417	0.882000	0.34594	0.884000	0.51177	6.240000	0.72363	0.954000	0.37851	0.533000	0.62120	AAT		0.453	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		119	322	0	0	0	1	0	119	322					C	93389892	T	C	93389892	3	2	107	1	0	0	0	0	1	0	0	0	12420	1493	52	4	211	4	PPP1R3C	10	93389892	Missense_Mutation	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08	32361443	93389892	42144855	51	35940											
SORCS1	114815	broad.mit.edu	37	chr10	108923788	108923788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgagtctcccgtcagcGcaaacgtggtgctggtcagt	14	11	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr10:108923788G>A	ENST00000263054.6	-	1	504	c.497C>T	c.(496-498)gCg>gTg	p.A166V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	166					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)		TCCCGTCAGCGCAAACGTGGT	0.607																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(496-498)gCg>gTg		sortilin-related VPS10 domain containing receptor 1							84	73	76					10																	108923788		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923788G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.497C>T	10.37:g.108923788G>A	ENSP00000263054:p.Ala166Val					SORCS1_ENST00000344440.6_Missense_Mutation_p.A166V	p.A166V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	504	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	166					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.497C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794235	0.31777	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.33654	1.4;1.4	5.16	5.16	0.70880	.	0.189340	0.36482	N	0.002569	T	0.31765	0.0807	N	0.11756	0.17	0.37005	D	0.895445	D;D;P;D;P	0.59767	0.977;0.986;0.954;0.977;0.954	B;P;P;P;P	0.51170	0.341;0.661;0.455;0.46;0.455	T	0.18555	-1.0333	9	.	.	.	-10.9687	17.3761	0.87392	0.0:0.0:1.0:0.0	.	166;166;166;166;166	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	166	ENSP00000263054:A166V;ENSP00000345964:A166V	.	A	-	2	0	SORCS1	108913778	1.000000	0.71417	0.984000	0.44739	0.457000	0.32468	4.741000	0.62095	2.666000	0.90696	0.655000	0.94253	GCG		0.607	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	248	0	0	0	1	0	4	248					A	108923788	G	A	108923788	3	1	107	1	0	0	0	0	1	0	0	0	14980	1087	38	1	3347	1	SORCS1	10	108923788	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	15533896	108923788	26610959	52	35941											
ZNF195	7748	broad.mit.edu	37	chr11	3380678	3380678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcgtcacatttgtagggCttctctccagtatgggtttt	9	9	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000354599.6_Silent_p.K448K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					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)		ATTTGTAGGGCTTCTCTCCAG	0.403																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1342-1344)aaG>aaA		zinc finger protein 195							168	171	170					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380678C>T		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.1560G>A	11.37:g.3380678C>T						ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000528796.1_Intron	p.K448K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1448	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	520					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1344G>A	CCDS44522.1																																																																																				0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	725	0	0	0	1	0	6	725					T	3380678	C	T	3380678	2	4	107	1	0	0	0	0	0	0	0	1	17811	796	28	2		2	ZNF195	11	3380678	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		3380678	131625838	53	35942											
OR5A1	219982	broad.mit.edu	37	chr11	59210950	59210951	+	Frame_Shift_Ins	INS	-	-	T													ttgtgggctgtgctgctcagINSttttttttctttgtcggcat					rs370698632		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:59210950_59210951insT	ENST00000302030.2	+	1	334_335	c.309_310insT	c.(310-312)tttfs	p.F104fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGCTCAGTTTTTTTTCTT	0.51																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(307-312)cattttfs		olfactory receptor, family 5, subfamily A, member 1																																				SO:0001589	frameshift_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210950_59210951insT	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"GPCR / Class A : Olfactory receptors"	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.317dupT	11.37:g.59210958_59210958dupT	ENSP00000303096:p.Phe104fs						p.HF103fs	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	334_335	+			103					B9EH58|Q6IFF2|Q96RB1	Frame_Shift_Ins	INS	ENST00000302030.2	37	c.309_310insT	CCDS31561.1																																																																																				0.51	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		7	791						7	791	---	---	---	---	T	59210951	-	T	59210950	7	5	107	1	0	1	1	0	0	0	0	0	11181	1020	36	0	311	0	OR5A1	11	59210950	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	55830272	59210950	75795566	54	35943											
HRASLS5	117245	broad.mit.edu	37	chr11	63257751	63257751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgttctaatgtgcccGgcggaggctgcttggctggg	16	11	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:63257751G>A	ENST00000301790.4	-	2	392	c.233C>T	c.(232-234)cCg>cTg	p.P78L	HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L|HRASLS5_ENST00000540857.1_Missense_Mutation_p.P68L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	78							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAATGTGCCCGGCGGAGGCTG	0.493																																						ENST00000540857.1																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(202-204)cCg>cTg		HRAS-like suppressor family, member 5							185	208	200					11																	63257751		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63257751G>A	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.233C>T	11.37:g.63257751G>A	ENSP00000301790:p.Pro78Leu					HRASLS5_ENST00000301790.4_Missense_Mutation_p.P78L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P78L	p.P68L	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN			2	335	-			78					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.203C>T	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	G	9.547	1.114974	0.20795	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.26373	1.74;2.24;1.75	3.67	-1.79	0.07932	.	2.087150	0.02276	N	0.068944	T	0.13884	0.0336	N	0.14661	0.345	0.09310	N	1	B;P;B	0.41673	0.041;0.759;0.056	B;B;B	0.28305	0.016;0.088;0.019	T	0.38067	-0.9678	10	0.51188	T	0.08	-2.3493	10.9222	0.47171	0.0:0.0:0.5125:0.4875	.	78;68;78	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	68;78;78	ENSP00000444809:P68L;ENSP00000443873:P78L;ENSP00000301790:P78L	ENSP00000301790:P78L	P	-	2	0	HRASLS5	63014327	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.368000	0.07543	-0.331000	0.08501	-1.142000	0.01873	CCG		0.493	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1	NM_054108		427	1031	0	0	0	1	0	427	1031					A	63257751	G	A	63257751	3	1	107	1	0	0	0	0	1	0	0	0	7381	1116	39	1	626	1	HRASLS5	11	63257751	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	4046801	63257751	71748765	55	35944											
CCDC87	55231	broad.mit.edu	37	chr11	66358359	66358359	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggcagctgcctcaggcGggctttggagctatatttaa	13	8	1	1	rs201943750		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr11:66358359G>A	ENST00000333861.3	-	1	2195	c.2128C>T	c.(2128-2130)Cgc>Tgc	p.R710C	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	710					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						TGCCTCAGGCGGGCTTTGGAG	0.557																																						ENST00000333861.3																			0				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						c.(2128-2130)Cgc>Tgc		coiled-coil domain containing 87		G	CYS/ARG	0,4400		0,0,2200	57	62	60		2128	4.1	0.3	11		60	4,8584		0,4,4290	yes	missense	CCDC87	NM_018219.2	180	0,4,6490	AA,AG,GG		0.0466,0.0,0.0308	probably-damaging	710/850	66358359	4,12984	2200	4294	6494	SO:0001583	missense	55231							g.chr11:66358359G>A	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.2128C>T	11.37:g.66358359G>A	ENSP00000328487:p.Arg710Cys						p.R710C	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	2195	-			710					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2128C>T	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929265	0.34096	0.0	4.66E-4	ENSG00000182791	ENST00000333861	T	0.34072	1.38	5.07	4.14	0.48551	.	0.000000	0.43919	D	0.000515	T	0.55673	0.1935	M	0.70595	2.14	0.38943	D	0.958188	D	0.89917	1.0	D	0.70935	0.971	T	0.61113	-0.7128	10	0.56958	D	0.05	-9.6332	11.2898	0.49244	0.0:0.1836:0.8164:0.0	.	710	Q9NVE4	CCD87_HUMAN	C	710	ENSP00000328487:R710C	ENSP00000328487:R710C	R	-	1	0	CCDC87	66114935	0.866000	0.29940	0.252000	0.24328	0.123000	0.20343	1.200000	0.32247	1.327000	0.45338	0.561000	0.74099	CGC		0.557	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		6	552	0	0	0	1	0	6	552					A	66358359	G	A	66358359	3	1	107	1	0	0	0	0	1	0	0	0	2869	1116	39	1	425	1	CCDC87	11	66358359	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	3100608	66358359	68648157	56	35945											
ITFG2	55846	broad.mit.edu	37	chr12	2929350	2929350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggtcctgaacatctgacaGggcagctggtgtccctcaag	13	11	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:2929350G>A	ENST00000228799.2	+	5	644	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	169					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACATCTGACAGGGCAGCTGGT	0.597																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(505-507)Ggg>Agg		integrin alpha FG-GAP repeat containing 2							99	72	81					12																	2929350		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2929350G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.505G>A	12.37:g.2929350G>A	ENSP00000228799:p.Gly169Arg					ITFG2_ENST00000542548.1_Missense_Mutation_p.G57R|ITFG2_ENST00000419778.2_5'UTR	p.G169R	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		5	644	+			169					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.505G>A	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914335	0.92178	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T;T	0.73152	-0.72;1.97	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.84566	0.5500	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87007	0.2120	10	0.72032	D	0.01	-0.3388	16.5494	0.84464	0.0:0.0:1.0:0.0	.	169	Q969R8	ITFG2_HUMAN	R	169;57	ENSP00000228799:G169R;ENSP00000437870:G57R	ENSP00000228799:G169R	G	+	1	0	ITFG2	2799611	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	9.238000	0.95380	2.384000	0.81235	0.561000	0.74099	GGG		0.597	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		5	110	0	0	0	1	0	5	110					A	2929350	G	A	2929350	3	1	107	1	0	0	0	0	1	0	0	0	7900	1000	35	2	523	2	ITFG2	12	2929350	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		2929350	130922545	57	35946											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-													agcagccaccgccacctcaaCagcagcagcagcagcagcag					rs372118289		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.64	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		11	248						11	248	---	---	---	---	-	8200560	CAG	-	8200558	7	5	107	1	0	1	0	1	0	0	0	0	6039	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-Q3-AA2A-01A-11D-A377-08	5271208	8200558	125651337	58	35947											
RECQL	5965	broad.mit.edu	37	chr12	21644546	21644547	+	Frame_Shift_Ins	INS	-	-	T													tttattttctttgtcaggacINStttttttttctgaataagct							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:21644546_21644547insT	ENST00000444129.2	-	3	588_589	c.120_121insA	c.(118-123)aaagtcfs	p.V41fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.V41fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	41					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)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			1	Deletion - Frameshift(1)	p.V41fs*2(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(118-123)aatcctfs	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)			,	10,4254		0,10,2122					,	3.3	0.2			53	10,8244		0,10,4117	no	frameshift,frameshift	RECQL	NM_032941.2,NM_002907.3	,	0,20,6239	A1A1,A1R,RR		0.1212,0.2345,0.1598	,	,		20,12498				SO:0001589	frameshift_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21644546_21644547insT	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.121dupA	12.37:g.21644555_21644555dupT	ENSP00000416739:p.Val41fs					RECQL_ENST00000421138.2_Frame_Shift_Ins_p.NP40fs	p.NP40fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			3	588_589	-			40					A8K6G2	Frame_Shift_Ins	INS	ENST00000444129.2	37	c.120_121insA	CCDS31756.1																																																																																				0.381	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		13	598						13	598	---	---	---	---	T	21644547	-	T	21644546	7	5	107	1	0	1	1	0	0	0	0	0	13251	565	20	0	1880	0	RECQL	12	21644546	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	13443988	21644546	112207349	59	35948											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		109	240	1	0	3.99156e-37	1	4.44393e-37	109	240					A	25398284	C	A	25398284	3	1	107	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	3753738	25398284	108453611	60	35949											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841316	27841316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtggacttggcagaatatgCgcccaatctcagaggcagtg	13	10	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:27841316C>T	ENST00000318304.8	+	25	2757	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A672V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A794V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A819V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	825	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGAATATGCGCCCAATCTC	0.473																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2473-2475)gCg>gTg		PTPRF interacting protein, binding protein 1 (liprin beta 1)							249	241	244					12																	27841316		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841316C>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2474C>T	12.37:g.27841316C>T	ENSP00000314724:p.Ala825Val					PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A794V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A819V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A672V	p.A825V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			25	2757	+	Lung SC(9;0.0873)		825			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2474C>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.485176|5.485176	0.96323|0.96323	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	D;D;D;D;D|.	0.85171|.	-1.95;-1.95;-1.95;-1.95;-1.95|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.000000|.	0.33959|.	U|.	0.004396|.	D|D	0.84356|0.84356	0.5454|0.5454	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.998;1.0;0.972;1.0|.	D|D	0.86957|0.86957	0.2089|0.2089	10|5	0.66056|.	D|.	0.02|.	-13.8284|-13.8284	18.5085|18.5085	0.90907|0.90907	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	672;656;825;819;794|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	V|C	656;672;825;794;819|56	ENSP00000444304:A656V;ENSP00000445425:A672V;ENSP00000314724:A825V;ENSP00000443442:A794V;ENSP00000228425:A819V|.	ENSP00000228425:A819V|.	A|R	+|+	2|1	0|0	PPFIBP1|PPFIBP1	27732583|27732583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.716000|7.716000	0.84723|0.84723	2.465000|2.465000	0.83290|0.83290	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		9	1361	0	0	0	1	0	9	1361					T	27841316	C	T	27841316	3	4	107	1	0	0	0	0	1	0	0	0	12355	768	27	1	2592	1	PPFIBP1	12	27841316	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	2443032	27841316	106010579	61	35950											
FMNL3	91010	broad.mit.edu	37	chr12	50047068	50047068	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttctctagttctgccacccGcatcatgttttcattctcta	4	14	5	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:50047068G>A	ENST00000293590.5	-	13	1497	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	FMNL3_ENST00000335154.5_Missense_Mutation_p.R422W|FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W			Q8IVF7	FMNL3_HUMAN	formin-like 3	422	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCTGCCACCCGCATCATGTTT	0.542																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(1264-1266)Cgg>Tgg		formin-like 3							180	183	182					12																	50047068		1987	4166	6153	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50047068G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1264C>T	12.37:g.50047068G>A	ENSP00000293590:p.Arg422Trp					FMNL3_ENST00000550488.1_Missense_Mutation_p.R422W|FMNL3_ENST00000352151.5_Missense_Mutation_p.R371W|FMNL3_ENST00000293590.5_Missense_Mutation_p.R422W	p.R422W	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			13	1497	-			422			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.1264C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.267087	0.80469	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.58	3.58	0.41010	.	0.113971	0.56097	D	0.000029	T	0.49081	0.1536	M	0.63843	1.955	0.46437	D	0.999047	D;D	0.89917	0.987;1.0	P;D	0.70016	0.534;0.967	T	0.52208	-0.8606	10	0.87932	D	0	.	11.3304	0.49473	0.0:0.1371:0.7209:0.142	.	371;422	Q8IVF7-2;Q8IVF7-3	.;.	W	422;422;371;422	ENSP00000335655:R422W;ENSP00000447479:R422W;ENSP00000344311:R371W;ENSP00000293590:R422W	ENSP00000293590:R422W	R	-	1	2	FMNL3	48333335	0.345000	0.24835	1.000000	0.80357	0.998000	0.95712	1.072000	0.30678	1.455000	0.47813	0.655000	0.94253	CGG		0.542	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		6	865	0	0	0	1	0	6	865					A	50047068	G	A	50047068	3	1	107	1	0	0	0	0	1	0	0	0	5978	1086	38	1	1875	1	FMNL3	12	50047068	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	22205752	50047068	83804827	62	35951											
OR6C74	254783	broad.mit.edu	37	chr12	55641157	55641157	+	Frame_Shift_Del	DEL	T	T	-													ggtgattatttttcttctccTttttttcacctacatgttga							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:55641157delT	ENST00000343870.4	+	1	176	c.86delT	c.(85-87)cttfs	p.L29fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTCTCCTTTTTTTCACC	0.378																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(85-87)ctfs		olfactory receptor, family 6, subfamily C, member 74							183	177	179					12																	55641157		2203	4300	6503	SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641157delT		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.86delT	12.37:g.55641157delT	ENSP00000342836:p.Leu29fs						p.L29fs	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	176	+			29						Frame_Shift_Del	DEL	ENST00000343870.4	37	c.86delT	CCDS31816.1																																																																																				0.378	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			7	737						7	737	---	---	---	---	-	55641157	T	-	55641157	7	5	107	1	0	1	0	1	0	0	0	0	11240	1609	56	0	88	0	OR6C74	12	55641157	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	5594089	55641157	78210738	63	35952											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	15	11	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155	155	155					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		7	1265	0	0	0	1	0	7	1265					T	56629464	C	T	56629464	3	4	107	1	0	0	0	0	1	0	0	0	14671	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	988307	56629464	77222431	64	35953											
SRGAP1	57522	broad.mit.edu	37	chr12	64491019	64491019	+	Splice_Site	DEL	A	A	-													tgagttttttttttttttttAggtgaaaatcctttggctga					rs79989081		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:64491019delA	ENST00000355086.3	+	15	2202		c.e15-1		SRGAP1_ENST00000543397.1_Splice_Site|SRGAP1_ENST00000357825.3_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1						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)	p.?(1)		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)		TTTTTTTTTTAGGTGAAAATC	0.348																																						ENST00000355086.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	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						c.e15-1		SLIT-ROBO Rho GTPase activating protein 1							43	45	44					12																	64491019		2203	4300	6503	SO:0001630	splice_region_variant	57522				axon guidance	cytosol		g.chr12:64491019delA	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.1679-1A>-	12.37:g.64491019delA						SRGAP1_ENST00000357825.3_Splice_Site|SRGAP1_ENST00000543397.1_Splice_Site|RP11-196H14.2_ENST00000535594.1_RNA		NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2202	+								Q9H8A3|Q9P2P2	Splice_Site	DEL	ENST00000355086.3	37		CCDS8967.1																																																																																				0.348	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		Intron	11	390						11	390	---	---	---	---	-	64491019	A	-	64491019	8	5	107	1	0	1	0	1	0	0	1	0	15197	434	15	0	1735	0	SRGAP1	12	64491019	Splice_Site	DEL	A	TCGA-Q3-AA2A-01A-11D-A377-08	7861555	64491019	69360876	65	35954											
BTBD11	121551	broad.mit.edu	37	chr12	107937864	107937864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcatgcactgcccacaaatgGaatgggaaaaccccaacgtg	9	12	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:107937864G>A	ENST00000280758.5	+	3	1966	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K|BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	480						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						CCCACAAATGGAATGGGAAAA	0.582																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1438-1440)Gaa>Aaa		BTB (POZ) domain containing 11							68	60	63					12																	107937864		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107937864G>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1438G>A	12.37:g.107937864G>A	ENSP00000280758:p.Glu480Lys					BTBD11_ENST00000490090.2_Missense_Mutation_p.E480K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E480K	p.E480K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	1966	+			480					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1438G>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356457	0.95854	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71863	0.3390	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.991;0.98;0.999	T	0.74150	-0.3758	10	0.72032	D	0.01	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	480;480;480	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	K	480;480;480;111;114	ENSP00000280758:E480K;ENSP00000413889:E480K;ENSP00000447319:E480K;ENSP00000447606:E111K;ENSP00000407416:E114K	ENSP00000280758:E480K	E	+	1	0	BTBD11	106461994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.852000	0.99516	2.666000	0.90696	0.655000	0.94253	GAA		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		40	194	0	0	0	1	0	40	194					A	107937864	G	A	107937864	3	1	107	1	0	0	0	0	1	0	0	0	1543	1175	41	2	1448	2	BTBD11	12	107937864	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	43446845	107937864	25914031	66	35955											
UBC	7316	broad.mit.edu	37	chr12	125397946	125397946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcccatcttccagctgCtttccggcaaagatcaacct	8	15	2	1	rs577374084	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr12:125397946C>T	ENST00000538617.1	-	3	688	c.372G>A	c.(370-372)aaG>aaA	p.K124K	UBC_ENST00000536769.1_Silent_p.K124K|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Silent_p.K124K			P0CG48	UBC_HUMAN	ubiquitin C	504	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.K124K(1)		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)		CTTCCAGCTGCTTTCCGGCAA	0.542													-|||	3	0.000599042	0.0	0.0	5008	,	,		28580	0.0		0.0	False		,,,				2504	0.0031					ENST00000536769.1																			1	Substitution - coding silent(1)	p.K124K(1)	endometrium(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(370-372)aaG>aaA		ubiquitin C							145	138	140					12																	125397946		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397946C>T		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.372G>A	12.37:g.125397946C>T						UBC_ENST00000339647.5_Silent_p.K124K|UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Silent_p.K124K	p.K124K			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	1948	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		124			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.372G>A																																																																																					0.542	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		7	912	0	0	0	1	0	7	912					T	125397946	C	T	125397946	2	4	107	1	0	0	0	0	0	0	0	1	16896	796	28	2		2	UBC	12	125397946	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	17460082	125397946	8453949	67	35956											
FAM123A	219287	broad.mit.edu	37	chr13	25744404	25744404	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agccgcgccctcctggggctCgggtccctgctcctcggtct	13	18	1	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:25744404C>T	ENST00000515384.1	-	1	2021	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	AMER2_ENST00000357816.2_Missense_Mutation_p.E333K|AMER2_ENST00000381853.3_Missense_Mutation_p.E333K|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	452					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)										TCCTGGGGCTCGGGTCCCTGC	0.657																																						ENST00000357816.2																			0											c.(997-999)Gag>Aag		APC membrane recruitment protein 2							24	22	22					13																	25744404		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744404C>T	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.1354G>A	13.37:g.25744404C>T	ENSP00000426528:p.Glu452Lys					AMER2_ENST00000381853.3_Missense_Mutation_p.E333K|AMER2_ENST00000515384.1_Missense_Mutation_p.E452K	p.E333K							3	1472	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.997G>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	6.954	0.545819	0.13312	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.16897	2.31;2.31;2.31	4.6	4.6	0.57074	.	0.331247	0.28572	N	0.014875	T	0.07503	0.0189	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.036;0.005	B;B	0.14578	0.011;0.003	T	0.33954	-0.9848	10	0.09590	T	0.72	-5.5157	9.997	0.41905	0.0:0.8971:0.0:0.1029	.	452;333	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	333;333;452	ENSP00000350469:E333K;ENSP00000371277:E333K;ENSP00000426528:E452K	ENSP00000350469:E333K	E	-	1	0	FAM123A	24642404	0.000000	0.05858	0.023000	0.16930	0.064000	0.16182	0.150000	0.16263	2.383000	0.81215	0.561000	0.74099	GAG		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		26	91	0	0	0	1	0	26	91					T	25744404	C	T	25744404	3	4	107	1	0	0	0	0	1	0	0	0	5443	893	31	1	665	1	FAM123A	13	25744404	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		25744404	89425474	68	35957											
MTUS2	23281	broad.mit.edu	37	chr13	29600312	29600312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaccctcaaagtggcCgctcagaagcacgggaaagc	12	14	2	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:29600312C>T	ENST00000431530.3	+	1	1565	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	493						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						TCAAAGTGGCCGCTCAGAAGC	0.502																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1507-1509)Cgc>Tgc		microtubule associated tumor suppressor candidate 2							79	84	83					13																	29600312		1973	4142	6115	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600312C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1507C>T	13.37:g.29600312C>T	ENSP00000392057:p.Arg503Cys						p.R503C	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1565	+			493					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1507C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.08	2.130528	0.37630	.	.	ENSG00000132938	ENST00000431530	T	0.12039	2.72	5.92	-8.99	0.00751	.	1.333950	0.04700	N	0.415575	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38693	-0.9649	9	.	.	.	.	5.915	0.19050	0.1411:0.5246:0.2381:0.0962	.	493	Q5JR59	MTUS2_HUMAN	C	503	ENSP00000392057:R503C	.	R	+	1	0	MTUS2	28498312	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.104000	0.10923	-0.703000	0.05049	-1.283000	0.01379	CGC		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		40	154	0	0	0	1	0	40	154					T	29600312	C	T	29600312	3	4	107	1	0	0	0	0	1	0	0	0	10007	652	23	1	1509	1	MTUS2	13	29600312	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	3855908	29600312	85569566	69	35958											
MAB21L1	4081	broad.mit.edu	37	chr13	36049899	36049899	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaacctggaccggattttgCgcgccgagaggtagccggag	16	10	0	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:36049899C>T	ENST00000379919.4	-	1	933	c.377G>A	c.(376-378)cGc>cAc	p.R126H	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	126					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)		CCGGATTTTGCGCGCCGAGAG	0.587																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(376-378)cGc>cAc		mab-21-like 1 (C. elegans)							44	45	45					13																	36049899		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049899C>T	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.377G>A	13.37:g.36049899C>T	ENSP00000369251:p.Arg126His					NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron	p.R126H	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	933	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	126					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.377G>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533938	0.85812	.	.	ENSG00000180660	ENST00000379919	T	0.08634	3.07	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06679	-1.0813	10	0.46703	T	0.11	-0.3257	19.7375	0.96212	0.0:1.0:0.0:0.0	.	126	Q13394	MB211_HUMAN	H	126	ENSP00000369251:R126H	ENSP00000369251:R126H	R	-	2	0	MAB21L1	34947899	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.680000	0.91292	0.655000	0.94253	CGC		0.587	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		4	167	0	0	0	1	0	4	167					T	36049899	C	T	36049899	3	4	107	1	0	0	0	0	1	0	0	0	9180	768	27	1	706	1	MAB21L1	13	36049899	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	6449587	36049899	79119979	70	35959											
TFDP1	7027	broad.mit.edu	37	chr13	114265370	114265370	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atagaccagaaccttagtccCgggaaaggtaagggcacctg	12	10	0	2	rs144432965	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr13:114265370C>T	ENST00000375370.5	+	3	284	c.72C>T	c.(70-72)ccC>ccT	p.P24P	TFDP1_ENST00000538138.1_5'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	24					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)			ACCTTAGTCCCGGGAAAGGTA	0.443										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(70-72)ccC>ccT		transcription factor Dp-1		C		1,4405	2.1+/-5.4	0,1,2202	155	145	148		72	1.7	1	13	dbSNP_134	148	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFDP1	NM_007111.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		24/411	114265370	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114265370C>T	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.72C>T	13.37:g.114265370C>T		TSP Lung(29;0.18)				TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_5'UTR|TFDP1_ENST00000538138.1_5'UTR	p.P24P	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		3	284	+	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)	24					B4DLQ9|Q5JSB4|Q8IZL5	Silent	SNP	ENST00000375370.5	37	c.72C>T	CCDS9538.1																																																																																				0.443	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		110	357	0	0	0	1	0	110	357					T	114265370	C	T	114265370	2	4	107	1	0	0	0	0	0	0	0	1	15849	639	23	1		1	TFDP1	13	114265370	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	78215471	114265370	904508	71	35960											
RNASE7	84659	broad.mit.edu	37	chr14	21511178	21511178	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccagagcaggattctgCccccttctgctgcttctgct	10	16	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:21511178C>T	ENST00000298690.4	+	2	284	c.27C>T	c.(25-27)tgC>tgT	p.C9C	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	9					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAGGATTCTGCCCCCTTCTGC	0.572																																						ENST00000298690.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(25-27)tgC>tgT		ribonuclease, RNase A family, 7							40	39	39					14																	21511178		2200	4300	6500	SO:0001819	synonymous_variant	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511178C>T	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"Ribonucleases, RNase A"	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.27C>T	14.37:g.21511178C>T						NDRG2_ENST00000403829.3_Intron	p.C9C	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	284	+	all_cancers(95;0.000759)		9					P80927|P83685|Q546N3	Silent	SNP	ENST00000298690.4	37	c.27C>T	CCDS41914.1																																																																																				0.572	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		4	132	0	0	0	1	0	4	132					T	21511178	C	T	21511178	2	4	107	1	0	0	0	0	0	0	0	1	13458	747	26	2		2	RNASE7	14	21511178	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		21511178	85838362	72	35961											
SYNE2	23224	broad.mit.edu	37	chr14	64421491	64421491	+	Frame_Shift_Del	DEL	T	T	-													agttggagaaatgggatggcTtttttggccatcattcatgc							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr14:64421491delT	ENST00000344113.4	+	8	857	c.645delT	c.(643-645)gctfs	p.A215fs	SYNE2_ENST00000554584.1_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000356081.3_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000341472.5_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	215	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		ATGGGATGGCTTTTTTGGCCA	0.388																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(643-645)gcfs		spectrin repeat containing, nuclear envelope 2							162	141	147					14																	64421491		1887	4123	6010	SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64421491delT	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.645delT	14.37:g.64421491delT	ENSP00000341781:p.Ala215fs					SYNE2_ENST00000356081.3_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000341472.5_Frame_Shift_Del_p.A215fs|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.A215fs	p.A215fs	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	8	875	+			215			Actin-binding.|CH 2.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	c.645delT	CCDS41963.1																																																																																				0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	539						7	539	---	---	---	---	-	64421491	T	-	64421491	7	5	107	1	0	1	0	1	0	0	0	0	15498	1596	56	0	671	0	SYNE2	14	64421491	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	42910313	64421491	42928049	73	35962											
C15orf59	388135	broad.mit.edu	37	chr15	74032307	74032307	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctgtgtagggcagaaccGtctgcgtgctcttgtctgac	14	10	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr15:74032307G>A	ENST00000569673.1	-	3	2037	c.833C>T	c.(832-834)aCg>aTg	p.T278M	C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	278										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGCAGAACCGTCTGCGTGCT	0.592																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(832-834)aCg>aTg		chromosome 15 open reading frame 59							101	108	106					15																	74032307		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74032307G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.833C>T	15.37:g.74032307G>A	ENSP00000457205:p.Thr278Met					C15orf59_ENST00000379822.4_Missense_Mutation_p.T278M|C15orf59_ENST00000558834.1_5'UTR	p.T278M			Q2T9L4	CO059_HUMAN			3	2037	-			278						Missense_Mutation	SNP	ENST00000569673.1	37	c.833C>T	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338827	0.81911	.	.	ENSG00000205363	ENST00000379822	T	0.68903	-0.36	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81595	-0.0861	10	0.87932	D	0	.	18.093	0.89480	0.0:0.0:1.0:0.0	.	278	Q2T9L4	CO059_HUMAN	M	278	ENSP00000369150:T278M	ENSP00000369150:T278M	T	-	2	0	C15orf59	71819360	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.060000	0.93907	2.354000	0.79902	0.561000	0.74099	ACG		0.592	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		7	875	0	0	0	1	0	7	875					A	74032307	G	A	74032307	3	1	107	1	0	0	0	0	1	0	0	0	1812	1145	40	1	52	1	C15orf59	15	74032307	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		74032307	28499085	74	35963											
USP7	7874	broad.mit.edu	37	chr16	8988948	8988948	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagacctctttgtggaaatgCgccactgtgacaagcatctc	9	11	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:8988948C>T	ENST00000344836.4	-	28	3177	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	USP7_ENST00000381886.4_Silent_p.A977A|USP7_ENST00000535863.1_Silent_p.A894A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	993					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)	p.A993A(1)		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						TGTGGAAATGCGCCACTGTGA	0.502																																						ENST00000344836.4																			1	Substitution - coding silent(1)	p.A993A(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2977-2979)gcG>gcA		ubiquitin specific peptidase 7 (herpes virus-associated)							266	247	254					16																	8988948		2197	4300	6497	SO:0001819	synonymous_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8988948C>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2979G>A	16.37:g.8988948C>T						USP7_ENST00000381886.4_Silent_p.A977A|USP7_ENST00000535863.1_Silent_p.A894A	p.A993A	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			28	3177	-			993					A6NMY8|B7Z815|H0Y3G8	Silent	SNP	ENST00000344836.4	37	c.2979G>A	CCDS32385.1																																																																																				0.502	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			7	1247	0	0	0	1	0	7	1247					T	8988948	C	T	8988948	2	4	107	1	0	0	0	0	0	0	0	1	17142	755	27	1		1	USP7	16	8988948	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		8988948	81365805	75	35964											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		10	1188						10	1188	---	---	---	---	-	20370702	CCA	-	20370700	7	5	107	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-Q3-AA2A-01A-11D-A377-08	11381752	20370700	69984053	76	35965											
AARS	16	broad.mit.edu	37	chr16	70301695	70301696	+	Frame_Shift_Ins	INS	-	-	T													tgtctgggtccttcttcagcINStcaggaaatgcatctccctg							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr16:70301695_70301696insT	ENST00000261772.8	-	9	1231_1232	c.1088_1089insA	c.(1087-1089)gagfs	p.E363fs	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)		CCTTCTTCAGCTCAGGAAATGC	0.51											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1087-1089)gctfs		alanyl-tRNA synthetase	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70301695_70301696insT	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.1089dupA	16.37:g.70301696_70301696dupT	ENSP00000261772:p.Glu363fs		OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.A363fs	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	9	1231_1232	-		Ovarian(137;0.0365)	363						Frame_Shift_Ins	INS	ENST00000261772.8	37	c.1088_1089insA	CCDS32474.1																																																																																				0.51	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		10	378						10	378	---	---	---	---	T	70301696	-	T	70301695	7	5	107	1	0	1	1	0	0	0	0	0	19	796	28	0	1869	0	AARS	16	70301695	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	49930995	70301695	20053058	77	35966											
DNAH2	146754	broad.mit.edu	37	chr17	7708357	7708357	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	acaatgcccagaaagatctaGaagaggcactgcccgccctg	10	13	1	4			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708357G>C	ENST00000572933.1	+	60	10725	c.9265G>C	c.(9265-9267)Gaa>Caa	p.E3089Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3089	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)				GAAAGATCTAGAAGAGGCACT	0.582																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9265-9267)Gaa>Caa		dynein, axonemal, heavy chain 2							67	73	71					17																	7708357		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708357G>C	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.9265G>C	17.37:g.7708357G>C	ENSP00000458355:p.Glu3089Gln					DNAH2_ENST00000389173.2_Missense_Mutation_p.E3089Q	p.E3089Q			Q9P225	DYH2_HUMAN			60	10725	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3089			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9265G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782129	0.70222	.	.	ENSG00000183914	ENST00000389173	T	0.74209	-0.82	4.88	4.88	0.63580	Dynein heavy chain, coiled coil stalk (1);	0.057608	0.64402	D	0.000002	T	0.71117	0.3302	L	0.37800	1.135	0.80722	D	1	B	0.28258	0.205	B	0.39152	0.292	T	0.66221	-0.5978	10	0.24483	T	0.36	.	16.9512	0.86246	0.0:0.0:1.0:0.0	.	3089	Q9P225	DYH2_HUMAN	Q	3089	ENSP00000373825:E3089Q	ENSP00000373825:E3089Q	E	+	1	0	DNAH2	7649082	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.930000	0.75858	2.541000	0.85698	0.591000	0.81541	GAA		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		94	288	0	0	0	1	0	94	288					C	7708357	G	C	7708357	3	2	107	1	0	0	0	0	1	0	0	0	4618	943	33	5	9499	5	DNAH2	17	7708357	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		7708357	73486853	78	35967			1	26		3	3	316	G		6.126786e-07
DNAH2	146754	broad.mit.edu	37	chr17	7708641	7708641	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	cggcccccagcccaagtggaGatagtgatgcaggcagttat	13	11	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708641G>C	ENST00000572933.1	+	61	10832	c.9372G>C	c.(9370-9372)gaG>gaC	p.E3124D	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3124	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)				CCCAAGTGGAGATAGTGATGC	0.507																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9370-9372)gaG>gaC		dynein, axonemal, heavy chain 2							110	106	107					17																	7708641		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708641G>C	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.9372G>C	17.37:g.7708641G>C	ENSP00000458355:p.Glu3124Asp					DNAH2_ENST00000389173.2_Missense_Mutation_p.E3124D	p.E3124D			Q9P225	DYH2_HUMAN			61	10832	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3124			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9372G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918069	0.73098	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.57907	0.37	5.62	2.09	0.27110	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.43757	1.38	0.80722	D	1	P;P	0.40660	0.48;0.726	B;P	0.51297	0.413;0.665	T	0.42155	-0.9468	10	0.25751	T	0.34	.	10.78	0.46371	0.2594:0.0:0.7406:0.0	.	3085;3124	Q9P225-2;Q9P225	.;DYH2_HUMAN	D	3085;3124	ENSP00000373825:E3124D	ENSP00000353818:E3085D	E	+	3	2	DNAH2	7649366	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	1.613000	0.36900	0.724000	0.32296	0.655000	0.94253	GAG		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		81	251	0	0	0	1	0	81	251					C	7708641	G	C	7708641	3	2	107	1	0	0	0	0	1	0	0	0	4618	933	33	5	9610	5	DNAH2	17	7708641	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	284	7708641	73486569	79	35968			1	26		3	3	316	G		6.126786e-07
DNAH2	146754	broad.mit.edu	37	chr17	7708672	7708672	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggcagttatgattcttcgaGgcaacgagcccacatgggca	12	10	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:7708672G>C	ENST00000572933.1	+	61	10863	c.9403G>C	c.(9403-9405)Ggc>Cgc	p.G3135R	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3135	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)				GATTCTTCGAGGCAACGAGCC	0.502																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(9403-9405)Ggc>Cgc		dynein, axonemal, heavy chain 2							97	93	94					17																	7708672		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7708672G>C	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.9403G>C	17.37:g.7708672G>C	ENSP00000458355:p.Gly3135Arg					DNAH2_ENST00000389173.2_Missense_Mutation_p.G3135R	p.G3135R			Q9P225	DYH2_HUMAN			61	10863	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3135			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9403G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014629	0.75161	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.83163	-1.69	5.62	5.62	0.85841	Dynein heavy chain, coiled coil stalk (1);	0.056220	0.64402	D	0.000001	D	0.86104	0.5853	M	0.83774	2.66	0.80722	D	1	B;B	0.32324	0.314;0.364	B;B	0.35240	0.198;0.188	D	0.85682	0.1301	10	0.51188	T	0.08	.	18.4187	0.90579	0.0:0.0:1.0:0.0	.	3096;3135	Q9P225-2;Q9P225	.;DYH2_HUMAN	R	3096;3135	ENSP00000373825:G3135R	ENSP00000353818:G3096R	G	+	1	0	DNAH2	7649397	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.688000	0.74557	2.652000	0.90054	0.655000	0.94253	GGC		0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		62	230	0	0	0	1	0	62	230					C	7708672	G	C	7708672	3	2	107	1	0	0	0	0	1	0	0	0	4618	1000	35	5	9641	5	DNAH2	17	7708672	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	31	7708672	73486538	80	35969			1	26		3	3	316	G		6.126786e-07
C17orf68	80169	broad.mit.edu	37	chr17	8138120	8138120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatctcattgtgtgcattccGaacagggctgcctggcggag	14	10	1	0	rs199698527		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:8138120G>A	ENST00000315684.8	-	9	1571	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	522					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TGTGCATTCCGAACAGGGCTG	0.577													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19263	0.0		0.0	False		,,,				2504	0.0					ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1564-1566)Cgg>Tgg		CTS telomere maintenance complex component 1			TRP/ARG	9,3983		0,9,1987	98	100	99		1564	5.2	0.1	17		99	0,8312		0,0,4156	yes	missense	CTC1	NM_025099.5	101	0,9,6143	AA,AG,GG		0.0,0.2255,0.0731	probably-damaging	522/1218	8138120	9,12295	1996	4156	6152	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138120G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1564C>T	17.37:g.8138120G>A	ENSP00000313759:p.Arg522Trp						p.R522W	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			9	1571	-			522					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1564C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	11.82	1.753873	0.31046	0.002255	0.0	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.91792	-2.91;-2.91	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.71581	2.175	0.43494	D	0.995737	D	0.89917	1.0	D	0.91635	0.999	D	0.95629	0.8688	10	0.87932	D	0	-22.3791	14.2593	0.66073	0.0:0.0:1.0:0.0	.	522	Q2NKJ3	CTC1_HUMAN	W	522;487	ENSP00000313759:R522W;ENSP00000396018:R487W	ENSP00000313759:R522W	R	-	1	2	CTC1	8078845	0.730000	0.28100	0.130000	0.21974	0.123000	0.20343	1.428000	0.34892	2.459000	0.83118	0.598000	0.82781	CGG		0.577	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		6	441	0	0	0	1	0	6	441					A	8138120	G	A	8138120	3	1	107	1	0	0	0	0	1	0	0	0	1882	1057	37	1	2149	1	C17orf68	17	8138120	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	429448	8138120	73057090	81	35970											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	11	13	1	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	416	0	0	0	1	0	6	416					G	16285497	A	G	16285497	2	3	107	1	0	0	0	0	0	0	0	1	16895	69	3	4		4	UBB	17	16285497	Silent	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08	8147377	16285497	64909713	82	35971											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					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)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	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.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		8	342						8	342	---	---	---	---	-	18167780	GCT	-	18167778	7	5	107	1	0	1	0	1	0	0	0	0	14840	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-Q3-AA2A-01A-11D-A377-08	1882281	18167778	63027432	83	35972											
RPL19	6143	broad.mit.edu	37	chr17	37360818	37360818	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggtctaagaccaaggaagcaCgcaagcgccgtgaagagcgc	14	11	1	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:37360818C>G	ENST00000225430.4	+	6	570	c.508C>G	c.(508-510)Cgc>Ggc	p.R170G	RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000579260.1_Missense_Mutation_p.R168G	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	170					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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CAAGGAAGCACGCAAGCGCCG	0.527																																						ENST00000579260.1																			0				kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(502-504)Cgc>Ggc		ribosomal protein L19							75	81	79					17																	37360818		1925	4125	6050	SO:0001583	missense	6143				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr17:37360818C>G		CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"L ribosomal proteins"	10312	protein-coding gene	gene with protein product	"60S ribosomal protein L19", "ribosomal protein L19, cytosolic, N-terminus truncated"	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.508C>G	17.37:g.37360818C>G	ENSP00000225430:p.Arg170Gly					RPL19_ENST00000582193.1_Missense_Mutation_p.R168G|RPL19_ENST00000579374.1_Missense_Mutation_p.R167G|RPL19_ENST00000225430.4_Missense_Mutation_p.R170G	p.R168G			P84098	RL19_HUMAN			6	905	+			170					B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Missense_Mutation	SNP	ENST00000225430.4	37	c.502C>G	CCDS42312.1	.	.	.	.	.	.	.	.	.	.	c	16.59	3.165415	0.57476	.	.	ENSG00000108298	ENST00000225430	.	.	.	5.33	4.37	0.52481	.	0.059366	0.64402	D	0.000004	T	0.72415	0.3457	M	0.93197	3.39	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73132	-0.4079	9	0.72032	D	0.01	.	8.6764	0.34181	0.1508:0.7734:0.0:0.0758	.	170	P84098	RL19_HUMAN	G	170	.	ENSP00000225430:R170G	R	+	1	0	RPL19	34614344	0.998000	0.40836	0.938000	0.37757	0.980000	0.70556	3.717000	0.54911	1.257000	0.44085	0.563000	0.77884	CGC		0.527	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981		7	476	0	0	0	1	0	7	476					G	37360818	C	G	37360818	3	3	107	1	0	0	0	0	1	0	0	0	13616	536	19	5	530	5	RPL19	17	37360818	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	19193040	37360818	43834392	84	35973											
ABCA5	23461	broad.mit.edu	37	chr17	67302911	67302912	+	Frame_Shift_Ins	INS	-	-	T													tatctttaaaaattcttttaINStttttttttctttttctgct							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr17:67302911_67302912insT	ENST00000392676.3	-	6	806_807	c.742_743insA	c.(742-744)atafs	p.I248fs	ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.I248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.I248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					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)	p.I248L(1)|p.I248fs*1(1)		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)	AAATTCTTTTATTTTTTTTTCT	0.243																																						ENST00000392676.3																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.I248L(1)|p.I248fs*1(1)	large_intestine(1)|lung(1)	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						c.(742-744)aaafs		ATP-binding cassette, sub-family A (ABC1), member 5																																				SO:0001589	frameshift_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67302911_67302912insT	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.743dupA	17.37:g.67302920_67302920dupT	ENSP00000376443:p.Ile248fs					ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.K248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.K248fs	p.K248fs			Q8WWZ7	ABCA5_HUMAN			6	806_807	-	Breast(10;3.72e-11)		248					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	ENST00000392676.3	37	c.742_743insA	CCDS11685.1																																																																																				0.243	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		7	214						7	214	---	---	---	---	T	67302912	-	T	67302911	7	5	107	1	0	1	1	0	0	0	0	0	35	449	16	0	4321	0	ABCA5	17	67302911	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	29942093	67302911	13892299	85	35974											
SLC14A2	8170	broad.mit.edu	37	chr18	43246996	43246996	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccatggctgccagtgggaaaAgggtcagcaaagccctcagc	13	12	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr18:43246996A>G	ENST00000255226.6	+	13	2470	c.1654A>G	c.(1654-1656)Agg>Ggg	p.R552G	SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	552					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGGGAAAAGGGTCAGCAA	0.478																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1654-1656)Agg>Ggg		solute carrier family 14 (urea transporter), member 2							91	84	87					18																	43246996		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43246996A>G	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1654A>G	18.37:g.43246996A>G	ENSP00000255226:p.Arg552Gly					SLC14A2_ENST00000589658.1_Missense_Mutation_p.R29G|SLC14A2_ENST00000586448.1_Missense_Mutation_p.R552G	p.R552G	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			13	2470	+			552					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.1654A>G	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	6.688	0.495556	0.12762	.	.	ENSG00000132874	ENST00000255226	T	0.36699	1.24	4.37	4.37	0.52481	.	0.340286	0.24960	N	0.034236	T	0.31544	0.0800	L	0.50333	1.59	0.32344	N	0.559296	B	0.12630	0.006	B	0.20955	0.032	T	0.34950	-0.9808	10	0.38643	T	0.18	-7.2644	9.2009	0.37258	0.8181:0.1819:0.0:0.0	.	552	Q15849	UT2_HUMAN	G	552	ENSP00000255226:R552G	ENSP00000255226:R552G	R	+	1	2	SLC14A2	41500994	0.038000	0.19896	0.307000	0.25127	0.095000	0.18619	0.812000	0.27211	1.827000	0.53221	0.533000	0.62120	AGG		0.478	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			4	132	0	0	0	1	0	4	132					G	43246996	A	G	43246996	3	3	107	1	0	0	0	0	1	0	0	0	14447	63	3	4	1700	4	SLC14A2	18	43246996	Missense_Mutation	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08		43246996	34830252	86	35975											
CELF5	60680	broad.mit.edu	37	chr19	3290280	3290280	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccaggagtttggagAcacggagctgacgcagatgt	13	12	0	3			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:3290280A>G	ENST00000292672.2	+	11	1275	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CELF5_ENST00000541430.2_Silent_p.R374R	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	413	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GAGTTTGGAGACACGGAGCTG	0.542																																						ENST00000292672.2																			0				kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						c.(1237-1239)gAc>gGc		CUGBP, Elav-like family member 5							99	87	91					19																	3290280		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3290280A>G	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1238A>G	19.37:g.3290280A>G	ENSP00000292672:p.Asp413Gly					CELF5_ENST00000541430.2_Silent_p.R374R	p.D413G	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN			11	1275	+			413			RRM 3.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.1238A>G	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355769	0.82243	.	.	ENSG00000161082	ENST00000292672	T	0.17370	2.28	4.32	4.32	0.51571	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52419	-0.8578	10	0.87932	D	0	-20.3383	12.6476	0.56744	1.0:0.0:0.0:0.0	.	413	Q8N6W0	CELF5_HUMAN	G	413	ENSP00000292672:D413G	ENSP00000292672:D413G	D	+	2	0	CELF5	3241280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.258000	0.95555	1.731000	0.51592	0.443000	0.29094	GAC		0.542	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1	NM_021938		4	297	0	0	0	1	0	4	297					G	3290280	A	G	3290280	3	3	107	1	0	0	0	0	1	0	0	0	3228	275	10	4	1280	4	CELF5	19	3290280	Missense_Mutation	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08		3290280	55838703	87	35976											
RETN	56729	broad.mit.edu	37	chr19	7734228	7734230	+	In_Frame_Del	DEL	CTC	CTC	-													gcaggatgaaagctctctgtCtcctcctcctccctgtcctg							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:7734228_7734230delCTC	ENST00000221515.2	+	2	104_106	c.16_18delCTC	c.(16-18)ctcdel	p.L9del	RETN_ENST00000381324.2_In_Frame_Del_p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	9					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						AGCTCTCTGTCTCCTCCTCCTCC	0.596																																						ENST00000221515.2																			0				ovary(1)	1						c.(16-18)del		resistin																																				SO:0001651	inframe_deletion	56729						hormone activity	g.chr19:7734228_7734230delCTC	AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.16_18delCTC	19.37:g.7734237_7734239delCTC	ENSP00000221515:p.Leu9del					RETN_ENST00000381324.2_In_Frame_Del_p.L9del	p.L9del	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN			2	104_106	+			9					D6W649|Q540D9|Q76B53	In_Frame_Del	DEL	ENST00000221515.2	37	c.16_18delCTC	CCDS12182.1																																																																																				0.596	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	NM_020415		7	887						7	887	---	---	---	---	-	7734230	CTC	-	7734228	7	5	107	1	0	1	0	1	0	0	0	0	13286	913	32	0	18	0	RETN	19	7734228	In_Frame_Del	DEL	CTC	TCGA-Q3-AA2A-01A-11D-A377-08	4443948	7734228	51394755	88	35977											
KPTN	11133	broad.mit.edu	37	chr19	47986554	47986554	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccacgcctcactcacggGcaatagagtcaaggttgtac	10	13	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:47986554G>A	ENST00000338134.3	-	3	499	c.392C>T	c.(391-393)gCc>gTc	p.A131V	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	131					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)		TCACTCACGGGCAATAGAGTC	0.617											OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338134.3																			0				breast(1)|lung(3)|ovary(2)|pancreas(2)	8						c.(391-393)gCc>gTc		kaptin (actin binding protein)							117	130	126					19																	47986554		2086	4201	6287	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47986554G>A	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.392C>T	19.37:g.47986554G>A	ENSP00000337850:p.Ala131Val		OREG0025593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	951	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	p.A131V	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	3	499	-		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)	131					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.392C>T	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	35	5.458714	0.96240	.	.	ENSG00000118162	ENST00000338134	.	.	.	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84270	0.0488	9	0.72032	D	0.01	-25.3185	16.3782	0.83418	0.0:0.0:1.0:0.0	.	131	Q9Y664	KPTN_HUMAN	V	131	.	ENSP00000337850:A131V	A	-	2	0	KPTN	52678366	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.893000	0.92498	2.214000	0.71695	0.491000	0.48974	GCC		0.617	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			5	483	0	0	0	1	0	5	483					A	47986554	G	A	47986554	3	1	107	1	0	0	0	0	1	0	0	0	8467	1203	42	2	958	2	KPTN	19	47986554	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	40252326	47986554	11142429	89	35978											
CARD8	22900	broad.mit.edu	37	chr19	48737670	48737670	+	Frame_Shift_Del	DEL	C	C	-													cttttcttacctgggaatgtCccccccagatagttgacact							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:48737670delC	ENST00000359009.4	-	3	378	c.66delG	c.(64-66)gggfs	p.G22fs	CARD8_ENST00000521613.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000447740.2_Frame_Shift_Del_p.D64fs|CARD8_ENST00000519940.1_Frame_Shift_Del_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000391898.3_Frame_Shift_Del_p.D114fs			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	22					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)		CTGGGAATGTCCCCCCCAGAT	0.433																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)acfs		caspase recruitment domain family, member 8							155	130	139					19																	48737670		2203	4300	6503	SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737670delC	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.66delG	19.37:g.48737670delC	ENSP00000351901:p.Gly22fs					CARD8_ENST00000359009.4_Frame_Shift_Del_p.G22fs|CARD8_ENST00000520153.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000520015.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Del_p.D64fs|CARD8_ENST00000520753.1_Frame_Shift_Del_p.D114fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000519940.1_Frame_Shift_Del_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Del_p.D64fs	p.D114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382	-		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)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Del	DEL	ENST00000359009.4	37	c.340delG																																																																																					0.433	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		8	438						8	438	---	---	---	---	-	48737670	C	-	48737670	7	5	107	1	0	1	0	1	0	0	0	0	2658	855	30	0	1309	0	CARD8	19	48737670	Frame_Shift_Del	DEL	C	TCGA-Q3-AA2A-01A-11D-A377-08	751116	48737670	10391313	90	35979											
TSKS	60385	broad.mit.edu	37	chr19	50243356	50243356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtaggttcttggcccGcagggcctcgtcttgggcca	14	13	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:50243356G>A	ENST00000246801.3	-	10	1664	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	528					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCTTGGCCCGCAGGGCCTCG	0.627																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1582-1584)Cgg>Tgg		testis-specific serine kinase substrate							73	76	75					19																	50243356		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243356G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1582C>T	19.37:g.50243356G>A	ENSP00000246801:p.Arg528Trp					TSKS_ENST00000358830.3_Missense_Mutation_p.R328W	p.R528W	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1664	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	528					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1582C>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454044	0.63290	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.49432	0.78;0.78	4.81	3.72	0.42706	.	0.287773	0.24566	N	0.037427	T	0.50309	0.1608	N	0.24115	0.695	0.32826	D	0.50336	D	0.89917	1.0	D	0.72338	0.977	T	0.59663	-0.7412	10	0.87932	D	0	-27.3869	9.3425	0.38089	0.0:0.0:0.7707:0.2293	.	528	Q9UJT2	TSKS_HUMAN	W	528;328	ENSP00000246801:R528W;ENSP00000351691:R328W	ENSP00000246801:R528W	R	-	1	2	TSKS	54935168	0.523000	0.26274	0.989000	0.46669	0.875000	0.50365	2.024000	0.41049	2.490000	0.84030	0.609000	0.83330	CGG		0.627	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		5	393	0	0	0	1	0	5	393					A	50243356	G	A	50243356	3	1	107	1	0	0	0	0	1	0	0	0	16679	1086	38	1	204	1	TSKS	19	50243356	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	1505686	50243356	8885627	91	35980											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	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)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	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.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	372	0	0	0	1	0	5	372					A	53855284	G	A	53855284	2	1	107	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	3611928	53855284	5273699	92	35981											
KIAA0406	9675	broad.mit.edu	37	chr20	36640671	36640671	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcttgcttccggtaaacCacagattgatggtaaagttc	10	9	0	2	rs544143684		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:36640671C>T	ENST00000373448.2	-	3	1786	c.1548G>A	c.(1546-1548)gtG>gtA	p.V516V	TTI1_ENST00000373447.3_Silent_p.V516V|TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	516					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.V516V(1)		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						TCCGGTAAACCACAGATTGAT	0.423																																						ENST00000373448.2																			1	Substitution - coding silent(1)	p.V516V(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1546-1548)gtG>gtA		TELO2 interacting protein 1							52	55	54					20																	36640671		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36640671C>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1548G>A	20.37:g.36640671C>T						TTI1_ENST00000449821.1_Silent_p.V516V|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.V516V	p.V516V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1786	-			516					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.1548G>A	CCDS13300.1																																																																																				0.423	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		66	200	0	0	0	1	0	66	200					T	36640671	C	T	36640671	2	4	107	1	0	0	0	0	0	0	0	1	8203	581	21	2		2	KIAA0406	20	36640671	Silent	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08		36640671	26384849	93	35982											
ZNFX1	57169	broad.mit.edu	37	chr20	47871123	47871123	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctttctgctgatgtgcgGtactggcgttcatagctgag	12	8	3	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:47871123G>A	ENST00000396105.1	-	10	3114	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	ZNFX1_ENST00000371752.1_Silent_p.Y956Y|ZNFX1_ENST00000371754.4_Silent_p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	956							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)			CTGATGTGCGGTACTGGCGTT	0.512																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(2866-2868)taC>taT		zinc finger, NFX1-type containing 1							190	162	172					20																	47871123		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47871123G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2868C>T	20.37:g.47871123G>A						ZNFX1_ENST00000371752.1_Silent_p.Y956Y|ZNFX1_ENST00000371754.4_Silent_p.Y956Y	p.Y956Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		10	3114	-			956					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.2868C>T	CCDS13417.1																																																																																				0.512	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		5	644	0	0	0	1	0	5	644					A	47871123	G	A	47871123	2	1	107	1	0	0	0	0	0	0	0	1	18258	1256	44	2		2	ZNFX1	20	47871123	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	11230452	47871123	15154397	94	35983											
SYCP2	10388	broad.mit.edu	37	chr20	58490593	58490593	+	Frame_Shift_Del	DEL	T	T	-													tttgtcaagcatagcattcaTtttttttataatctagaaaa							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:58490593delT	ENST00000357552.3	-	9	751	c.526delA	c.(526-528)atgfs	p.M176fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	176					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)			ATAGCATTCATTTTTTTTATA	0.289																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(526-528)tgfs		synaptonemal complex protein 2							75	82	80					20																	58490593		2200	4289	6489	SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58490593delT	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.526delA	20.37:g.58490593delT	ENSP00000350162:p.Met176fs					SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs	p.M176fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		9	751	-	all_lung(29;0.00344)		176					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	ENST00000357552.3	37	c.526delA	CCDS13482.1																																																																																				0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		7	433						7	433	---	---	---	---	-	58490593	T	-	58490593	7	5	107	1	0	1	0	1	0	0	0	0	15484	1493	52	0	4214	0	SYCP2	20	58490593	Frame_Shift_Del	DEL	T	TCGA-Q3-AA2A-01A-11D-A377-08	10619470	58490593	4534927	95	35984											
GMEB2	26205	broad.mit.edu	37	chr20	62221555	62221556	+	Frame_Shift_Ins	INS	-	-	G													attgtgctggagccaggcgaINSggcctgggccacgttctgca							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr20:62221555_62221556insG	ENST00000266068.1	-	9	1957_1958	c.1479_1480insC	c.(1477-1482)gcctcgfs	p.S494fs	GMEB2_ENST00000370077.1_Frame_Shift_Ins_p.S494fs|GMEB2_ENST00000370069.1_Frame_Shift_Ins_p.S443fs			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	494					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)			GAGCCAGGCGAGGCCTGGGCCA	0.683																																						ENST00000266068.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(1477-1482)gccgccfs		glucocorticoid modulatory element binding protein 2																																				SO:0001589	frameshift_variant	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62221555_62221556insG	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.1480dupC	20.37:g.62221557_62221557dupG	ENSP00000266068:p.Ser494fs					GMEB2_ENST00000370077.1_Frame_Shift_Ins_p.A494fs|GMEB2_ENST00000370069.1_Frame_Shift_Ins_p.A443fs	p.A494fs			Q9UKD1	GMEB2_HUMAN	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)		9	1957_1958	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		494					E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Frame_Shift_Ins	INS	ENST00000266068.1	37	c.1479_1480insC	CCDS13528.1																																																																																				0.683	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		7	239						7	239	---	---	---	---	G	62221556	-	G	62221555	7	5	107	1	0	1	1	0	0	0	0	0	6517	304	11	0	116	0	GMEB2	20	62221555	Frame_Shift_Ins	INS	-	TCGA-Q3-AA2A-01A-11D-A377-08	3730962	62221555	803965	96	35985											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgggcacacagcagaTgggcttgcagcagacaggct	15	11	0	3	rs587619630	byFrequency	TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		17583	0.0		0.0	False		,,,				2504	0.0					ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(367-369)Atc>Gtc		keratin associated protein 10-3							164	164	164					21																	45978232		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978232T>C	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.367A>G	21.37:g.45978232T>C	ENSP00000375478:p.Ile123Val					TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.I123V	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	411	-			123			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.367A>G	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.850393	0.00066	.	.	ENSG00000212935	ENST00000391620	T	0.01209	5.17	3.53	1.68	0.24146	.	.	.	.	.	T	0.00440	0.0014	N	0.00765	-1.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.02654	T	1	.	7.2709	0.26256	0.0:0.7638:0.0:0.2362	.	123	P60369	KR103_HUMAN	V	123	ENSP00000375478:I123V	ENSP00000375478:I123V	I	-	1	0	KRTAP10-3	44802660	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.913000	0.01580	0.822000	0.34565	-0.232000	0.12228	ATC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			9	876	0	0	0	1	0	9	876					C	45978232	T	C	45978232	3	2	107	1	0	0	0	0	1	0	0	0	8540	1464	51	4	302	4	KRTAP10-3	21	45978232	Missense_Mutation	SNP	T	TCGA-Q3-AA2A-01A-11D-A377-08		45978232	2151663	97	35986											
CLTCL1	8218	broad.mit.edu	37	chr22	19209057	19209057	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtcgatgtagattttaGccagtgcattgtgagtggca	13	6	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:19209057G>T	ENST00000263200.10	-	17	2711	c.2639C>A	c.(2638-2640)gCt>gAt	p.A880D	CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	880	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)					GTAGATTTTAGCCAGTGCATT	0.547			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				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						c.(2638-2640)gCt>gAt		clathrin, heavy chain-like 1							32	32	32					22																	19209057		2080	4247	6327	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19209057G>T		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.2639C>A	22.37:g.19209057G>T	ENSP00000445677:p.Ala880Asp					CLTCL1_ENST00000427926.1_Missense_Mutation_p.A880D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A880D	p.A880D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			17	2711	-	Colorectal(54;0.0993)		880			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.2639C>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083901	0.55861	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.23552	1.9;1.9;1.9	3.63	3.63	0.41609	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.072624	0.53938	D	0.000042	T	0.60919	0.2306	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	T	0.74902	-0.3506	10	0.87932	D	0	-3.9812	15.456	0.75314	0.0:0.0:1.0:0.0	.	880;880	P53675-2;P53675	.;CLH2_HUMAN	D	880	ENSP00000439662:A880D;ENSP00000445677:A880D;ENSP00000441158:A880D	ENSP00000445677:A880D	A	-	2	0	CLTCL1	17589057	1.000000	0.71417	0.968000	0.41197	0.008000	0.06430	8.761000	0.91691	1.880000	0.54463	0.462000	0.41574	GCT		0.547	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		14	60	1	0	1.49906e-05	1	1.53585e-05	14	60					T	19209057	G	T	19209057	3	4	107	1	0	0	0	0	1	0	0	0	3576	971	34	3	2347	3	CLTCL1	22	19209057	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		19209057	32095509	98	35987											
PLXNB2	23654	broad.mit.edu	37	chr22	50722589	50722589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtcgatattcttgccGtaagacttgacgtagaggtg	12	7	1	3	rs551050919		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chr22:50722589G>A	ENST00000449103.1	-	13	2375	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	PLXNB2_ENST00000496720.1_5'UTR|PLXNB2_ENST00000359337.4_Silent_p.Y745Y			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)		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)		TATTCTTGCCGTAAGACTTGA	0.677													g|||	1	0.000199681	0.0	0.0	5008	,	,		9821	0.001		0.0	False		,,,				2504	0.0					ENST00000449103.1																			1	Substitution - coding silent(1)	p.Y788Y(1)	prostate(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						c.(2233-2235)taC>taT		plexin B2							52	56	55					22																	50722589		2085	4203	6288	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722589G>A		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.2235C>T	22.37:g.50722589G>A						PLXNB2_ENST00000359337.4_Silent_p.Y745Y|PLXNB2_ENST00000496720.1_5'UTR	p.Y745Y			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	13	2375	-		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)	745					A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.2235C>T	CCDS43035.1																																																																																				0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	290	0	0	0	1	0	4	290					A	50722589	G	A	50722589	2	1	107	1	0	0	0	0	0	0	0	1	12166	1140	40	1		1	PLXNB2	22	50722589	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	31513532	50722589	581977	99	35988											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	12	15	1	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:19369427G>A	ENST00000422285.2	+	4	425	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000379806.5_Missense_Mutation_p.G145D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CTGGAGGCCGGCATCAACCCC	0.507																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(433-435)gGc>gAc		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						102	94	97					X																	19369427		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19369427G>A		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.320G>A	X.37:g.19369427G>A	ENSP00000394382:p.Gly107Asp					PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D	p.G145D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			5	579	+	Hepatocellular(33;0.183)		107					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.434G>A	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770754	0.69992	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25;-4.25;-4.25;-4.25	5.42	5.42	0.78866	Dehydrogenase, E1 component (1);	0.222797	0.44688	D	0.000430	D	0.97356	0.9135	L	0.49640	1.575	0.37880	D	0.93034	P;P;P;P;P	0.51537	0.464;0.9;0.946;0.46;0.946	B;D;P;P;P	0.63877	0.219;0.919;0.824;0.753;0.824	D	0.99107	1.0845	10	0.72032	D	0.01	-10.0855	13.15	0.59484	0.0:0.307:0.693:0.0	.	107;114;107;145;107	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	D	145;114;107;145;107;114;107	ENSP00000369134:G145D;ENSP00000438550:G114D;ENSP00000440761:G107D;ENSP00000406473:G145D;ENSP00000394382:G107D;ENSP00000348062:G114D;ENSP00000369133:G107D	ENSP00000348062:G114D	G	+	2	0	PDHA1	19279348	1.000000	0.71417	0.749000	0.31150	0.954000	0.61252	4.260000	0.58835	2.419000	0.82065	0.529000	0.55759	GGC		0.507	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			5	626	0	0	0	1	0	5	626					A	19369427	G	A	19369427	3	1	107	1	0	0	0	0	1	0	0	0	11706	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08		19369427	135901133	100	35989											
MED12	9968	broad.mit.edu	37	chrX	70360589	70360591	+	In_Frame_Del	DEL	AGC	AGC	-													ttcaacagccatcctacctgAgcagcagcagcagcagcaac							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:70360589_70360591delAGC	ENST00000374080.3	+	42	6181_6183	c.6149_6151delAGC	c.(6148-6153)gagcag>gag	p.Q2076del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				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)					ATCCTACCTGagcagcagcagca	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6157-6162)gag>g		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360589_70360591delAGC	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.6149_6151delAGC	X.37:g.70360598_70360600delAGC	ENSP00000363193:p.Gln2076del					MED12_ENST00000374102.1_In_Frame_Del_p.EQ2049del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.EQ2050del	p.EQ2053del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6357_6359	+	Renal(35;0.156)		2050			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6158_6160delAGC	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		9	455						9	455	---	---	---	---	-	70360591	AGC	-	70360589	7	5	107	1	0	1	0	1	0	0	0	0	9469	304	11	0	6315	0	MED12	23	70360589	In_Frame_Del	DEL	AGC	TCGA-Q3-AA2A-01A-11D-A377-08	50991162	70360589	84909971	101	35990											
ATRX	546	broad.mit.edu	37	chrX	76918967	76918967	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacagtcaatttgtgccGcaaaagcctatgtctgtatc	7	11	3	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:76918967G>A	ENST00000373344.5	-	12	4238	c.4024C>T	c.(4024-4026)Cgg>Tgg	p.R1342W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1304W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1342					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.R1342W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATTTGTGCCGCAAAAGCCTA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		3	Substitution - Missense(2)|Unknown(1)	p.R1342W(2)|p.?(1)	kidney(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4024-4026)Cgg>Tgg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						113	93	100					X																	76918967		2203	4296	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76918967G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4024C>T	X.37:g.76918967G>A	ENSP00000362441:p.Arg1342Trp					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1304W	p.R1342W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4238	-			1342					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4024C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.880033	0.72294	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93247	-3.19;-3.18	4.16	2.88	0.33553	.	0.000000	0.64402	U	0.000002	D	0.95421	0.8513	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.993	D	0.94455	0.7671	10	0.87932	D	0	-7.7306	10.9129	0.47118	0.0:0.0:0.4405:0.5595	.	1274;1304;1342	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	W	1342;1304;1269	ENSP00000362441:R1342W;ENSP00000378967:R1304W	ENSP00000362441:R1342W	R	-	1	2	ATRX	76805623	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.736000	0.47385	0.424000	0.26061	-0.314000	0.08810	CGG		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		5	535	0	0	0	1	0	5	535					A	76918967	G	A	76918967	3	1	107	1	0	0	0	0	1	0	0	0	1209	1086	38	1	3550	1	ATRX	23	76918967	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	6558378	76918967	78351593	102	35991											
NAP1L3	4675	broad.mit.edu	37	chrX	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-													gccgctgctgctgccactagTgctgctgctgctgctgctgt							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.S43del|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				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						ctgccactagtgctgctgctgct	0.586																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(148-153)act>a		nucleosome assembly protein 1-like 3				192,3509		5,127,55,1456,470						-0.4	0			14	387,6034		9,190,179,2144,1556	no	coding	NAP1L3	NM_004538.5		14,317,234,3600,2026	A1A1,A1R,A1,RR,R		6.0271,5.1878,5.7202				579,9543				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928153_92928155delTGC		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.149_151delGCA	X.37:g.92928162_92928164delTGC	ENSP00000362171:p.Ser50del					NAP1L3_ENST00000475430.1_5'UTR	p.ST50del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	412_414	-			50			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.149_151delGCA	CCDS14465.1																																																																																				0.586	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		15	249						15	249	---	---	---	---	-	92928155	TGC	-	92928153	7	5	107	1	0	1	0	1	0	0	0	0	10199	1696	59	0	1373	0	NAP1L3	23	92928153	In_Frame_Del	DEL	TGC	TCGA-Q3-AA2A-01A-11D-A377-08	16009186	92928153	62342407	103	35992											
ODZ1	10178	broad.mit.edu	37	chrX	123514928	123514928	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggcagcaagccgcctgctatCttcattggctactcctataa	8	13	2	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123514928C>T	ENST00000371130.3	-	31	7699	c.7636G>A	c.(7636-7638)Gat>Aat	p.D2546N	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.D2553N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2546					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)										CGCCTGCTATCTTCATTGGCT	0.433																																						ENST00000422452.2																			0											c.(7657-7659)Gat>Aat		teneurin transmembrane protein 1							75	71	73					X																	123514928		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514928C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7636G>A	X.37:g.123514928C>T	ENSP00000360171:p.Asp2546Asn					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D2546N	p.D2553N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	7720	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7657G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266557	0.80358	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86366	-2.11;-2.07	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.989;0.996;0.998	D	0.93438	0.6791	10	0.56958	D	0.05	.	19.0991	0.93266	0.0:1.0:0.0:0.0	.	2552;2553;2546	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	2546;2553	ENSP00000360171:D2546N;ENSP00000403954:D2553N	ENSP00000360171:D2546N	D	-	1	0	ODZ1	123342609	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.460000	0.83146	0.600000	0.82982	GAT		0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		13	559	0	0	0	1	0	13	559					T	123514928	C	T	123514928	3	4	107	1	0	0	0	0	1	0	0	0	10876	913	32	2	545	2	ODZ1	23	123514928	Missense_Mutation	SNP	C	TCGA-Q3-AA2A-01A-11D-A377-08	30586775	123514928	31755632	104	35993											
ODZ1	10178	broad.mit.edu	37	chrX	123695525	123695525	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttataaatgactcacctccAtcattgtccaagttatctcc	3	12	3	1			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:123695525A>G	ENST00000371130.3	-	14	2493	c.2430T>C	c.(2428-2430)gaT>gaC	p.D810D	TENM1_ENST00000422452.2_Silent_p.D810D	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	810					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)										ACTCACCTCCATCATTGTCCA	0.448																																						ENST00000422452.2																			0											c.(2428-2430)gaT>gaC		teneurin transmembrane protein 1							177	149	159					X																	123695525		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123695525A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2430T>C	X.37:g.123695525A>G						TENM1_ENST00000371130.3_Silent_p.D810D	p.D810D	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					14	2493	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.2430T>C	CCDS14609.1																																																																																				0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		11	847	0	0	0	1	0	11	847					G	123695525	A	G	123695525	2	3	107	1	0	0	0	0	0	0	0	1	10876	214	8	4		4	ODZ1	23	123695525	Silent	SNP	A	TCGA-Q3-AA2A-01A-11D-A377-08	180597	123695525	31575035	105	35994											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		15	2441	0	0	0	1	0	15	2441					A	140994960	G	A	140994960	2	1	107	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	17299435	140994960	14275600	106	35995											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	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)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	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.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		12	274						12	274	---	---	---	---	-	149639327	CAG	-	149639325	7	5	107	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-Q3-AA2A-01A-11D-A377-08	8644365	149639325	5631235	107	35996											
HMGB3	3149	broad.mit.edu	37	chrX	150156378	150156378	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaataaagaaactgttt	18	1	0	2			TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463																																						ENST00000325307.7																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(592-594)gaG>gaT		high mobility group box 3							49	48	49					X																	150156378		2203	4299	6502	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156378G>T	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp					HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.594G>T	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG		0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	593	1	0	5.9392e-07	1	6.16054e-07	5	593					T	150156378	G	T	150156378	3	4	107	1	0	0	0	0	1	0	0	0	7257	991	35	3	608	3	HMGB3	23	150156378	Missense_Mutation	SNP	G	TCGA-Q3-AA2A-01A-11D-A377-08	517053	150156378	5114182	108	35997											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-													gcttggtattagaggatagcAggaggaggaggaggaagagg							TCGA-Q3-AA2A-01A-11D-A377-08	TCGA-Q3-AA2A-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43b83885-061c-45d6-b8eb-11650ad2db96	977811bf-1722-4d2b-9347-69902f08c59a	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	459						9	459	---	---	---	---	-	151303908	AGG	-	151303906	7	5	107	1	0	1	0	1	0	0	0	0	9203	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-Q3-AA2A-01A-11D-A377-08	1147528	151303906	3966654	109	35998											
CALML6	163688	broad.mit.edu	37	chr1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggagagcgagctgagggcgGcattccgtgtctttgacaaa	15	8	1	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597																																						ENST00000307786.3																			2	Substitution - Missense(2)	p.A115T(2)	prostate(1)|lung(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(343-345)Gca>Aca		calmodulin-like 6							98	107	104					1																	1848280		2203	4300	6503	SO:0001583	missense	163688					cytoplasm|nucleus	calcium ion binding	g.chr1:1848280G>A	AF490905	CCDS30566.1	1p36.33	2013-01-10			ENSG00000169885	ENSG00000169885		"EF-hand domain containing"	24193	protein-coding gene	gene with protein product		610171					Standard	NM_138705		Approved	CAGLP	uc001aih.1	Q8TD86	OTTHUMG00000000943	ENST00000307786.3:c.343G>A	1.37:g.1848280G>A	ENSP00000304643:p.Ala115Thr					CALML6_ENST00000462293.1_3'UTR	p.A115T	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	4	797	+	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)	115			EF-hand 3.		A2A2M3|Q6Q2C4	Missense_Mutation	SNP	ENST00000307786.3	37	c.343G>A	CCDS30566.1	.	.	.	.	.	.	.	.	.	.	.	13.14	2.147600	0.37923	.	.	ENSG00000169885	ENST00000307786;ENST00000378604	T;T	0.74002	-0.8;-0.8	2.99	2.06	0.26882	EF-hand-like domain (1);	.	.	.	.	D	0.85035	0.5605	M	0.87038	2.855	0.27022	N	0.964453	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	.	5.8798	0.18848	0.1554:0.0:0.8446:0.0	.	115	Q8TD86	CALL6_HUMAN	T	115;98	ENSP00000304643:A115T;ENSP00000367867:A98T	ENSP00000304643:A115T	A	+	1	0	CALML6	1838140	0.056000	0.20664	0.030000	0.17652	0.359000	0.29487	1.847000	0.39299	0.594000	0.29761	0.313000	0.20887	GCA		0.597	CALML6-004	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276929.1	NM_138705		6	802	0	0	0	1	0	6	802					A	1848280	G	A	1848280	3	1	108	1	0	0	0	0	1	0	0	0	2597	1203	42	2	357	2	CALML6	1	1848280	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		1848280	247402341	1	35999											
VPS13D	55187	broad.mit.edu	37	chr1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacccatagaggaatttatgCggccttatgatttacaagat	8	7	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:12371650C>T	ENST00000358136.3	+	28	6920	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	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)		GGAATTTATGCGGCCTTATGA	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(6790-6792)Cgg>Tgg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							145	147	146					1																	12371650		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12371650C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6790C>T	1.37:g.12371650C>T	ENSP00000350854:p.Arg2264Trp					VPS13D_ENST00000356315.4_Missense_Mutation_p.R2264W	p.R2264W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	28	6920	+	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)	2264						Missense_Mutation	SNP	ENST00000358136.3	37	c.6790C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771616	0.69992	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47177	0.85;0.85	5.66	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.65729	0.2719	M	0.68593	2.085	0.80722	D	1	D;P;P	0.89917	1.0;0.794;0.691	D;B;B	0.87578	0.998;0.277;0.143	T	0.67841	-0.5566	10	0.66056	D	0.02	.	13.738	0.62829	0.4045:0.5955:0.0:0.0	.	171;2264;2264	B1AJZ2;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	W	2264	ENSP00000348666:R2264W;ENSP00000350854:R2264W	ENSP00000348666:R2264W	R	+	1	2	VPS13D	12294237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.322000	0.43814	0.711000	0.32018	0.563000	0.77884	CGG		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	721	0	0	0	1	0	6	721					T	12371650	C	T	12371650	3	4	108	1	0	0	0	0	1	0	0	0	17246	759	27	1	6896	1	VPS13D	1	12371650	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	10523370	12371650	236878971	2	36000											
CELA2A	63036	broad.mit.edu	37	chr1	15783633	15783633	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgactagggtggttggCggtgaagaagcgaggcccaa	17	6	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:15783633C>T	ENST00000359621.4	+	2	118	c.93C>T	c.(91-93)ggC>ggT	p.G31G	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	31	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGGTGGTTGGCGGTGAAGAAG	0.577																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(91-93)ggC>ggT		chymotrypsin-like elastase family, member 2A							106	98	100					1																	15783633		2203	4300	6503	SO:0001819	synonymous_variant	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15783633C>T		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.93C>T	1.37:g.15783633C>T						CELA2A_ENST00000497590.1_3'UTR	p.G31G	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			2	118	+			31			Peptidase S1.		B2R5I4|Q14243	Silent	SNP	ENST00000359621.4	37	c.93C>T	CCDS157.1																																																																																				0.577	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		4	255	0	0	0	1	0	4	255					T	15783633	C	T	15783633	2	4	108	1	0	0	0	0	0	0	0	1	3220	755	27	1		1	CELA2A	1	15783633	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	3411983	15783633	233466988	3	36001											
ARID1A	8289	broad.mit.edu	37	chr1	27106537	27106538	+	Frame_Shift_Ins	INS	-	-	GG													caacaaagtggagtggtggtINSgggactgcttggagatgctc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:27106537_27106538insGG	ENST00000324856.7	+	20	6519_6520	c.6148_6149insGG	c.(6148-6150)tggfs	p.W2050fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.W378fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.W1667fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.W1833fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2050					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)		GGAGTGGTGGTGGGACTGCTTG	0.554			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6148-6150)ggafs		AT rich interactive domain 1A (SWI-like)																																				SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106537_27106538insGG	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.6149_6150dupGG	1.37:g.27106538_27106539dupGG	ENSP00000320485:p.Trp2050fs					ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1833fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G1667fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.G378fs	p.G2050fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6519_6520	+		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)	2050					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	ENST00000324856.7	37	c.6148_6149insGG	CCDS285.1																																																																																				0.554	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		7	563						7	563	---	---	---	---	GG	27106538	-	GG	27106537	7	5	108	1	0	1	1	0	0	0	0	0	913	1696	59	0	6226	0	ARID1A	1	27106537	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	11322904	27106537	222144084	4	36002											
SLC6A9	6536	broad.mit.edu	37	chr1	44468618	44468618	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagccgcacctccccAaagttcccaatgtcatctga	9	15	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:44468618A>G	ENST00000360584.2	-	6	1040	c.849T>C	c.(847-849)ttT>ttC	p.F283F	SLC6A9_ENST00000475075.2_Silent_p.F99F|SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000372307.3_Silent_p.F145F|SLC6A9_ENST00000372310.3_Silent_p.F210F|SLC6A9_ENST00000537678.1_Silent_p.F145F	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	283					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)	GCACCTCCCCAAAGTTCCCAA	0.592																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(628-630)ttT>ttC		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						125	133	130					1																	44468618		2203	4300	6503	SO:0001819	synonymous_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44468618A>G	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.849T>C	1.37:g.44468618A>G						SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000475075.2_Silent_p.F99F|SLC6A9_ENST00000537678.1_Silent_p.F145F|SLC6A9_ENST00000360584.2_Silent_p.F283F|SLC6A9_ENST00000372307.3_Silent_p.F145F	p.F210F	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			6	795	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	283					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	c.630T>C	CCDS41317.1																																																																																				0.592	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649		142	800	0	0	0	1	0	142	800					G	44468618	A	G	44468618	2	3	108	1	0	0	0	0	0	0	0	1	14741	127	5	4		4	SLC6A9	1	44468618	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	17362081	44468618	204782003	5	36003											
SLC5A9	200010	broad.mit.edu	37	chr1	48694800	48694800	+	Intron	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcaaggtctggaggagAcagagggatccatccaaggt	14	7	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:48694800A>T	ENST00000438567.2	+	4	391				SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000236495.5_Missense_Mutation_p.D122V	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						tctggaggagacagagggatc	0.527																																						ENST00000236495.5																			0				breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						c.(364-366)gAc>gTc		solute carrier family 5 (sodium/sugar cotransporter), member 9							137	146	143					1																	48694800		2203	4300	6503	SO:0001627	intron_variant	200010					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity	g.chr1:48694800A>T	BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.340-167A>T	1.37:g.48694800A>T						SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V	p.D122V	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN			4	415	+			113					B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	ENST00000438567.2	37	c.365A>T	CCDS30709.2	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762531	0.31228	.	.	ENSG00000117834	ENST00000533824;ENST00000236495	D;D	0.86366	-2.09;-2.11	4.38	-3.72	0.04411	.	7.109250	0.00166	N	0.000000	T	0.69360	0.3102	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.61098	-0.7131	10	0.13470	T	0.59	.	2.5006	0.04632	0.2016:0.4357:0.229:0.1337	.	122;122	E9PJ08;E9PAK4	.;.	V	122	ENSP00000431900:D122V;ENSP00000236495:D122V	ENSP00000236495:D122V	D	+	2	0	SLC5A9	48467387	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	0.004000	0.13106	-0.559000	0.06110	-0.464000	0.05259	GAC		0.527	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022061.3	XM_117174		109	831	0	0	0	1	0	109	831					T	48694800	A	T	48694800	1	4	108	0	1	0	0	0	0	0	0	0	14722	275	10	5		5	SLC5A9	1	48694800	Intron	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	4226182	48694800	200555821	6	36004											
IL12RB2	3595	broad.mit.edu	37	chr1	67793895	67793895	+	Frame_Shift_Del	DEL	A	A	-													gtttacaggctaagtggaccAaaaaatttaacctggcagaa							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:67793895delA	ENST00000262345.1	+	5	1132	c.492delA	c.(490-492)ccafs	p.P164fs	IL12RB2_ENST00000541374.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000371000.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.P164fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	164	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TAAGTGGACCAAAAAATTTAA	0.348																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(490-492)ccfs		interleukin 12 receptor, beta 2							138	137	138					1																	67793895		2203	4300	6503	SO:0001589	frameshift_variant	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67793895delA	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.492delA	1.37:g.67793895delA	ENSP00000262345:p.Pro164fs					IL12RB2_ENST00000371000.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000541374.1_Frame_Shift_Del_p.P164fs|IL12RB2_ENST00000544434.1_Frame_Shift_Del_p.P164fs	p.P164fs	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			5	1132	+			164			Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Del	DEL	ENST00000262345.1	37	c.492delA	CCDS638.1																																																																																				0.348	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		7	727						7	727	---	---	---	---	-	67793895	A	-	67793895	7	5	108	1	0	1	0	1	0	0	0	0	7657	117	5	0	506	0	IL12RB2	1	67793895	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	19099095	67793895	181456726	7	36005											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		12	273						12	273	---	---	---	---	-	77334279	GCA	-	77334277	7	5	108	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-RB-A7B8-01A-12D-A33T-08	9540382	77334277	171916344	8	36006											
COL11A1	1301	broad.mit.edu	37	chr1	103483426	103483426	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ggggccttgtagacctggagGacccataataccctatagag	12	10	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:103483426G>T	ENST00000370096.3	-	11	1675	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T|COL11A1_ENST00000358392.2_Missense_Mutation_p.P467T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Collagen-like 1.|Triple-helical region (interrupted).				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)		AGACCTGGAGGACCCATAATA	0.418																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1399-1401)Cct>Act		collagen, type XI, alpha 1							98	101	100					1																	103483426		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483426G>T	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.1363C>A	1.37:g.103483426G>T	ENSP00000359114:p.Pro455Thr					COL11A1_ENST00000370096.3_Missense_Mutation_p.P455T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T	p.P467T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1716	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	455			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1399C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322302	0.60634	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-2.43;-2.43	5.38	5.38	0.77491	.	0.110223	0.64402	D	0.000005	D	0.96935	0.8999	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.995;0.991;0.994;0.997	D	0.95999	0.8992	10	0.44086	T	0.13	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	339;416;467;455	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	455;467;416;339;467	ENSP00000359114:P455T;ENSP00000351163:P467T;ENSP00000302551:P416T;ENSP00000426533:P339T;ENSP00000408640:P467T	ENSP00000302551:P416T	P	-	1	0	COL11A1	103256014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.281000	0.89905	2.673000	0.90976	0.650000	0.86243	CCT		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		75	471	1	0	5.02462e-34	1	5.41249e-34	75	471					T	103483426	G	T	103483426	3	4	108	1	0	0	0	0	1	0	0	0	3676	1174	41	3	4285	3	COL11A1	1	103483426	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	26149149	103483426	145767195	9	36007											
ALX3	257	broad.mit.edu	37	chr1	110607330	110607330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaatgtgctgaaggtcGtgcggttacgacgcttcttg	15	8	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:110607330G>A	ENST00000369792.4	-	2	560	c.473C>T	c.(472-474)aCg>aTg	p.T158M	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	158					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTGAAGGTCGTGCGGTTACG	0.597																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(472-474)aCg>aTg		ALX homeobox 3							111	108	109					1																	110607330		2203	4300	6503	SO:0001583	missense	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110607330G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"Homeoboxes / PRD class"	449	protein-coding gene	gene with protein product		606014	"aristaless-like homeobox 3", "frontonasal dysplasia"	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.473C>T	1.37:g.110607330G>A	ENSP00000358807:p.Thr158Met						p.T158M	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	560	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	158					O95075|Q5T8M4	Missense_Mutation	SNP	ENST00000369792.4	37	c.473C>T	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087698	0.76642	.	.	ENSG00000156150	ENST00000369792	D	0.97352	-4.35	4.18	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98960	0.9646	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99316	1.0905	10	0.87932	D	0	.	14.3494	0.66691	0.0:0.0:1.0:0.0	.	158	O95076	ALX3_HUMAN	M	158	ENSP00000358807:T158M	ENSP00000358807:T158M	T	-	2	0	ALX3	110408853	1.000000	0.71417	0.907000	0.35723	0.987000	0.75469	9.813000	0.99286	2.022000	0.59522	0.462000	0.41574	ACG		0.597	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		112	349	0	0	0	1	0	112	349					A	110607330	G	A	110607330	3	1	108	1	0	0	0	0	1	0	0	0	557	1145	40	1	570	1	ALX3	1	110607330	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	7123904	110607330	138643291	10	36008											
SETDB1	9869	broad.mit.edu	37	chr1	150921863	150921863	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagcttggaaagccagcttgCccagtcacggaagcaggtag	13	10	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:150921863C>T	ENST00000271640.5	+	12	1632	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	481					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)			AGCCAGCTTGCCCAGTCACGG	0.443																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(1441-1443)gCc>gTc		SET domain, bifurcated 1							106	112	110					1																	150921863		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150921863C>T	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.1442C>T	1.37:g.150921863C>T	ENSP00000271640:p.Ala481Val					SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V	p.A481V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		12	1632	+	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)		481					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.1442C>T	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252181	0.59212	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.88046	-2.33;1.38;-2.33;1.14	4.65	4.65	0.58169	.	0.068152	0.64402	D	0.000015	T	0.69024	0.3065	N	0.24115	0.695	0.80722	D	1	B;P;B;B	0.38677	0.295;0.642;0.253;0.141	B;B;B;B	0.35278	0.081;0.199;0.088;0.012	T	0.72033	-0.4412	10	0.15499	T	0.54	.	17.7273	0.88369	0.0:1.0:0.0:0.0	.	481;482;481;481	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	V	481;482;481;481	ENSP00000271640:A481V;ENSP00000436148:A482V;ENSP00000357965:A481V;ENSP00000432348:A481V	ENSP00000271640:A481V	A	+	2	0	SETDB1	149188487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.161000	0.58170	2.417000	0.82017	0.561000	0.74099	GCC		0.443	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			5	696	0	0	0	1	0	5	696					T	150921863	C	T	150921863	3	4	108	1	0	0	0	0	1	0	0	0	14188	739	26	2	1484	2	SETDB1	1	150921863	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	40314533	150921863	98328758	11	36009											
HRNR	388697	broad.mit.edu	37	chr1	152187485	152187485	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggccacggctggaagaaCgacctgagccagacccatgt	13	12	0	3	rs571489109	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152187485C>T	ENST00000368801.2	-	3	6695	c.6620G>A	c.(6619-6621)cGt>cAt	p.R2207H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2207					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)			GCTGGAAGAACGACCTGAGCC	0.597													c|||	3	0.000599042	0.0008	0.0014	5008	,	,		38924	0.0		0.0	False		,,,				2504	0.001					ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6619-6621)cGt>cAt		hornerin							24	37	32					1																	152187485		2153	4277	6430	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187485C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6620G>A	1.37:g.152187485C>T	ENSP00000357791:p.Arg2207His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2207H	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6695	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2207					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6620G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.903	0.734868	0.15574	.	.	ENSG00000197915	ENST00000368801	T	0.17854	2.25	3.18	-2.56	0.06268	.	.	.	.	.	T	0.03178	0.0093	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44159	-0.9346	9	0.45353	T	0.12	.	4.6072	0.12383	0.0:0.3414:0.1691:0.4895	.	2207	Q86YZ3	HORN_HUMAN	H	2207	ENSP00000357791:R2207H	ENSP00000357791:R2207H	R	-	2	0	HRNR	150454109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.838000	0.04372	-0.349000	0.08274	-0.506000	0.04501	CGT		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		27	2365	0	0	0	1	0	27	2365					T	152187485	C	T	152187485	3	4	108	1	0	0	0	0	1	0	0	0	7389	536	19	1	1936	1	HRNR	1	152187485	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	1265622	152187485	97063136	12	36010											
FLG	2312	broad.mit.edu	37	chr1	152277587	152277587	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cccgtgaccggctctgtcttCgtgatgggacctggggtgtc	15	12	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152277587C>T	ENST00000368799.1	-	3	9810	c.9775G>A	c.(9775-9777)Gaa>Aaa	p.E3259K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3259	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)			GCTCTGTCTTCGTGATGGGAC	0.582									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9775-9777)Gaa>Aaa		filaggrin							241	245	244					1																	152277587		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277587C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9775G>A	1.37:g.152277587C>T	ENSP00000357789:p.Glu3259Lys					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E3259K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9810	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3259			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9775G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424271	0.25639	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02103	4.45	1.52	-3.04	0.05412	.	.	.	.	.	T	0.01287	0.0042	M	0.68317	2.08	0.09310	N	1	D	0.56287	0.975	P	0.55713	0.782	T	0.30416	-0.9979	9	0.07644	T	0.81	-0.6633	3.8186	0.08825	0.0:0.3025:0.4847:0.2128	.	3259	P20930	FILA_HUMAN	K	3259;197	ENSP00000357789:E3259K	ENSP00000357786:E197K	E	-	1	0	FLG	150544211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.047000	0.03521	-0.855000	0.04125	-0.535000	0.04281	GAA		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		288	2136	0	0	0	1	0	288	2136					T	152277587	C	T	152277587	3	4	108	1	0	0	0	0	1	0	0	0	5947	893	31	1	2414	1	FLG	1	152277587	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	90102	152277587	96973034	13	36011											
AQP10	89872	broad.mit.edu	37	chr1	154295786	154295786	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagacagcctccatttttgCcacctatcctgccccctatc	6	17	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154295786C>T	ENST00000324978.3	+	4	480	c.440C>T	c.(439-441)gCc>gTc	p.A147V	AQP10_ENST00000484864.1_Missense_Mutation_p.A147V|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	147					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)			TCCATTTTTGCCACCTATCCT	0.557																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(439-441)gCc>gTc		aquaporin 10							116	116	116					1																	154295786		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295786C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.440C>T	1.37:g.154295786C>T	ENSP00000318355:p.Ala147Val					AQP10_ENST00000324978.3_Missense_Mutation_p.A147V|AQP10_ENST00000355197.4_3'UTR	p.A147V			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	476	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		147					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.440C>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484892	0.84854	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11930	2.73;2.73	5.04	4.12	0.48240	Aquaporin-like (2);	0.332186	0.32503	N	0.006010	T	0.19406	0.0466	M	0.83312	2.635	0.33617	D	0.604262	D;P	0.54047	0.964;0.912	P;P	0.56127	0.792;0.756	T	0.08722	-1.0708	10	0.87932	D	0	.	8.5573	0.33489	0.0:0.7645:0.1526:0.0828	.	147;147	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	V	147	ENSP00000318355:A147V;ENSP00000420341:A147V	ENSP00000318355:A147V	A	+	2	0	AQP10	152562410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.810000	0.55613	1.364000	0.46038	0.555000	0.69702	GCC		0.557	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		7	750	0	0	0	1	0	7	750					T	154295786	C	T	154295786	3	4	108	1	0	0	0	0	1	0	0	0	822	739	26	2	454	2	AQP10	1	154295786	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	2018199	154295786	94954835	14	36012											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		6	305	0	0	0	1	0	6	305					A	162769603	G	A	162769603	3	1	108	1	0	0	0	0	1	0	0	0	7418	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8473817	162769603	86481018	15	36013											
TMCO1	54499	broad.mit.edu	37	chr1	165712550	165712551	+	Splice_Site	INS	-	-	A													accactctaccatcaaatctINSaaaagaaaaaaaaaaaaaaa							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	14	411						14	411	---	---	---	---	A	165712551	-	A	165712550	8	5	108	1	0	1	1	0	0	0	1	0	16047	1536	53	0	252	0	TMCO1	1	165712550	Splice_Site	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	2942947	165712550	83538071	16	36014											
SCYL3	57147	broad.mit.edu	37	chr1	169833511	169833511	+	Splice_Site	DEL	T	T	-													actttgaaaaagcattcaccTtttttggggccaagcagata							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000367772.4_Splice_Site_p.K318fs|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		SCY1-like 3 (S. cerevisiae)							92	94	94					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice	p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			9	1151	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		318					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Splice_Site	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	7	726						7	726	---	---	---	---	-	169833511	T	-	169833511	8	5	108	1	0	1	0	1	0	0	1	0	13999	1623	56	0	1298	0	SCYL3	1	169833511	Splice_Site	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	4120961	169833511	79417110	17	36015											
MYOC	4653	broad.mit.edu	37	chr1	171605766	171605766	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtgggcttggggtctcGcatccacacaccatacttgc	12	12	1	0	rs202176570		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:171605766G>A	ENST00000037502.6	-	3	885	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	272	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		R -> G (in GLC1A; unknown pathological significance). {ECO:0000269|PubMed:11004290}.		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)	p.R272*(1)		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)					TTGGGGTCTCGCATCCACACA	0.512																																						ENST00000037502.5																			1	Substitution - Nonsense(1)	p.R272*(1)	endometrium(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	GRCh37	CM005409	MYOC	M		c.(814-816)Cga>Tga		myocilin, trabecular meshwork inducible glucocorticoid response		G	stop/ARG	0,4406		0,0,2203	94	95	95		814	-1.1	1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	MYOC	NM_000261.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		272/505	171605766	1,13005	2203	4300	6503	SO:0001587	stop_gained	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605766G>A	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.814C>T	1.37:g.171605766G>A	ENSP00000037502:p.Arg272*						p.R272*	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	873	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		272		R -> G (in GLC1A; could be a polymorphism).	Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	ENST00000037502.6	37	c.814C>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908515	0.92107	0.0	1.16E-4	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	.	.	.	5.76	-1.13	0.09775	.	0.139314	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	16.4257	0.83814	0.0:0.0:0.6471:0.3529	.	.	.	.	X	272;225;205;272	.	ENSP00000037502:R272X	R	-	1	2	MYOC	169872389	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	1.127000	0.31357	-0.445000	0.07159	0.555000	0.69702	CGA		0.512	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		7	552	0	0	0	1	0	7	552					A	171605766	G	A	171605766	4	1	108	1	0	0	0	0	0	1	0	0	10127	1095	38	1	704	1	MYOC	1	171605766	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1772255	171605766	77644855	18	36016											
CACNA1E	777	broad.mit.edu	37	chr1	181690939	181690939	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgatgtacaatgggatcCgctcccagggtggggtcagc	16	9	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:181690939C>T	ENST00000367573.2	+	16	2002	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	668					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)	p.R668C(2)		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						CAATGGGATCCGCTCCCAGGG	0.507																																						ENST00000526775.1																			2	Substitution - Missense(2)	p.R668C(2)	endometrium(2)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2002-2004)Cgc>Tgc		calcium channel, voltage-dependent, R type, alpha 1E subunit							206	209	208					1																	181690939		2041	4204	6245	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181690939C>T	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.2002C>T	1.37:g.181690939C>T	ENSP00000356545:p.Arg668Cys					CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R668C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C	p.R668C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			16	2167	+			668					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2002C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535986	0.85812	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.33	5.33	0.75918	.	0.048724	0.85682	N	0.000000	D	0.98413	0.9472	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	D	0.99482	1.0948	10	0.72032	D	0.01	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	668;668	Q15878-2;Q15878-3	.;.	C	668;668;619;619;275;668;668	ENSP00000356542:R668C;ENSP00000434814:R668C;ENSP00000350183:R619C;ENSP00000351101:R619C;ENSP00000356539:R275C;ENSP00000353222:R668C;ENSP00000356545:R668C	ENSP00000350183:R619C	R	+	1	0	CACNA1E	179957562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.465000	0.83290	0.563000	0.77884	CGC		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		150	689	0	0	0	1	0	150	689					T	181690939	C	T	181690939	3	4	108	1	0	0	0	0	1	0	0	0	2549	652	23	1	2064	1	CACNA1E	1	181690939	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	10085173	181690939	67559682	19	36017											
RNASEL	6041	broad.mit.edu	37	chr1	182555377	182555377	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacatctgcccccatctcatCaaggagaatcttcaagacct	5	14	5	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:182555377C>A	ENST00000367559.3	-	2	818	c.565G>T	c.(565-567)Gat>Tat	p.D189Y	RNASEL_ENST00000539397.1_Missense_Mutation_p.D189Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	189					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCATCTCATCAAGGAGAATC	0.502																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(565-567)Gat>Tat		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							109	94	99					1																	182555377		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555377C>A	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.565G>T	1.37:g.182555377C>A	ENSP00000356530:p.Asp189Tyr					RNASEL_ENST00000539397.1_Missense_Mutation_p.D189Y|RNASEL_ENST00000444138.1_Missense_Mutation_p.D189Y	p.D189Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	818	-			189					Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.565G>T	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830035	0.50845	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.66460	-0.21;-0.21;-0.21	4.81	-0.887	0.10587	Ankyrin repeat-containing domain (3);	1.494410	0.03827	N	0.268530	T	0.51719	0.1691	N	0.08118	0	0.09310	N	1	P;P;P	0.51653	0.947;0.947;0.947	P;P;P	0.47626	0.552;0.552;0.552	T	0.49082	-0.8976	10	0.62326	D	0.03	-1.9781	6.5213	0.22277	0.0:0.3766:0.341:0.2825	.	189;189;189	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	Y	189	ENSP00000356530:D189Y;ENSP00000411147:D189Y;ENSP00000440844:D189Y	ENSP00000356530:D189Y	D	-	1	0	RNASEL	180822000	0.001000	0.12720	0.000000	0.03702	0.101000	0.19017	-0.153000	0.10144	-0.157000	0.11059	0.563000	0.77884	GAT		0.502	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		5	470	1	0	1.024e-07	1	1.07293e-07	5	470					A	182555377	C	A	182555377	3	1	108	1	0	0	0	0	1	0	0	0	13466	826	29	3	1684	3	RNASEL	1	182555377	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	864438	182555377	66695244	20	36018											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	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						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	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.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		11	599						11	599	---	---	---	---	A	183515267	-	A	183515266	7	5	108	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	959889	183515266	65735355	21	36019											
KLHDC8A	55220	broad.mit.edu	37	chr1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttgaggaagaacgatcGttccatcttcagccatcccc	7	14	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(778-780)Cga>Tga		kelch domain containing 8A							89	82	85					1																	205307704		2203	4300	6503	SO:0001587	stop_gained	55220							g.chr1:205307704G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.778C>T	1.37:g.205307704G>A	ENSP00000356124:p.Arg260*					KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*	p.R260*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		8	1594	-	Breast(84;0.23)		260					B3KU70|Q9NVG5	Nonsense_Mutation	SNP	ENST00000367156.3	37	c.778C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	38	6.698759	0.97772	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	.	.	.	5.62	5.62	0.85841	.	0.216018	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-19.0544	19.2423	0.93888	0.0:0.0:1.0:0.0	.	.	.	.	X	260;260;260;147	.	ENSP00000356123:R260X	R	-	1	2	KLHDC8A	203574327	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.085000	0.64468	2.642000	0.89623	0.655000	0.94253	CGA		0.517	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		70	372	0	0	0	1	0	70	372					A	205307704	G	A	205307704	4	1	108	1	0	0	0	0	0	1	0	0	8392	1153	40	1	282	1	KLHDC8A	1	205307704	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	21792438	205307704	43942917	22	36020											
PROX1	5629	broad.mit.edu	37	chr1	214171209	214171209	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactgcccctggttgtccGcaaaaactcctctgaccagt	8	15	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:214171209G>A	ENST00000366958.4	+	2	1939	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	PROX1_ENST00000261454.4_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000435016.1_Missense_Mutation_p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	444					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)		CTGGTTGTCCGCAAAAACTCC	0.627																																						ENST00000366958.4																			0				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						c.(1330-1332)cGc>cAc		prospero homeobox 1							78	87	84					1																	214171209		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171209G>A	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.1331G>A	1.37:g.214171209G>A	ENSP00000355925:p.Arg444His					PROX1_ENST00000435016.1_Missense_Mutation_p.R444H|PROX1_ENST00000498508.2_Missense_Mutation_p.R444H|PROX1_ENST00000261454.4_Missense_Mutation_p.R444H	p.R444H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1939	+			444					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1331G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889855	0.72524	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.55760	0.54;0.5;0.54;0.54	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73069	-0.4099	10	0.56958	D	0.05	-3.4891	19.6473	0.95784	0.0:0.0:1.0:0.0	.	444	Q92786	PROX1_HUMAN	H	16;444;444;444;444	ENSP00000420283:R444H;ENSP00000355925:R444H;ENSP00000400694:R444H;ENSP00000261454:R444H	ENSP00000261454:R444H	R	+	2	0	PROX1	212237832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.762000	0.74950	2.650000	0.89964	0.591000	0.81541	CGC		0.627	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		7	796	0	0	0	1	0	7	796					A	214171209	G	A	214171209	3	1	108	1	0	0	0	0	1	0	0	0	12607	1087	38	1	1333	1	PROX1	1	214171209	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8863505	214171209	35079412	23	36021											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646127	228646127	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaagtgcagacggccgtTcgcctgctgctgcccggcga	15	15	0	1	rs145799075		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:228646127T>G	ENST00000369160.2	+	1	320	c.297T>G	c.(295-297)gtT>gtG	p.V99V	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	99					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				AGACGGCCGTTCGCCTGCTGC	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17921	0.0		0.0	False		,,,				2504	0.0					ENST00000369160.2																			0				skin(1)	1						c.(295-297)gtT>gtG		histone cluster 3, H2bb		G		3,4403		0,3,2200	57	56	56		297	3.9	1	1	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	HIST3H2BB	NM_175055.2		0,3,6500	GG,GT,TT		0.0,0.0681,0.0231		99/127	228646127	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228646127T>G	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"Histones / Replication-dependent"	20514	protein-coding gene	gene with protein product		615046	"histone 3, H2bb"			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.297T>G	1.37:g.228646127T>G							p.V99V	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN			1	320	+		Prostate(94;0.183)	99					A4FU05|Q3ZCP6|Q5TA30	Silent	SNP	ENST00000369160.2	37	c.297T>G	CCDS1574.1																																																																																				0.652	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		7	486	0	0	0	1	0	7	486					G	228646127	T	G	228646127	2	3	108	1	0	0	0	0	0	0	0	1	7213	1770	62	4		4	HIST3H2BB	1	228646127	Silent	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	14474918	228646127	20604494	24	36022											
CHRM3	1131	broad.mit.edu	37	chr1	240072443	240072444	+	Frame_Shift_Ins	INS	-	-	A													tgctgctgtgccagtgtgacINSaaaaaaaagaggcgcaagca							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:240072443_240072444insA	ENST00000255380.4	+	5	2471_2472	c.1692_1693insA	c.(1693-1695)aaafs	p.K565fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	565					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCCAGTGTGACAAAAAAAAGAG	0.505																																						ENST00000255380.4																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.R568fs*>24(1)|p.K567fs*>24(1)	large_intestine(1)|breast(1)	breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(1690-1695)gaaaaafs		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)																																			SO:0001589	frameshift_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072443_240072444insA	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.1700dupA	1.37:g.240072451_240072451dupA	ENSP00000255380:p.Lys565fs						p.EK564fs	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2471_2472	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	564					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Frame_Shift_Ins	INS	ENST00000255380.4	37	c.1692_1693insA	CCDS1616.1																																																																																				0.505	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		8	464						8	464	---	---	---	---	A	240072444	-	A	240072443	7	5	108	1	0	1	1	0	0	0	0	0	3387	477	17	0	1694	0	CHRM3	1	240072443	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	11426316	240072443	9178178	25	36023											
RAB10	10890	broad.mit.edu	37	chr2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtggggaagacctgcgtccTttttcgtttttcggatgatg	13	7	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537																																						ENST00000264710.4																			0				lung(2)|ovary(1)	3						c.(76-78)cTt>cCt		RAB10, member RAS oncogene family							148	134	139					2																	26257554		2203	4300	6503	SO:0001583	missense	10890				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chr2:26257554T>C	AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.77T>C	2.37:g.26257554T>C	ENSP00000264710:p.Leu26Pro						p.L26P	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN			1	576	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		26					D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	ENST00000264710.4	37	c.77T>C	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284629	0.80803	.	.	ENSG00000084733	ENST00000264710	T	0.80909	-1.43	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95208	0.8323	10	0.87932	D	0	.	13.0672	0.59041	0.0:0.0:0.0:1.0	.	26	P61026	RAB10_HUMAN	P	26	ENSP00000264710:L26P	ENSP00000264710:L26P	L	+	2	0	RAB10	26111058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.971000	0.57363	0.533000	0.62120	CTT		0.537	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211610.1	NM_016131		5	616	0	0	0	1	0	5	616					C	26257554	T	C	26257554	3	2	108	1	0	0	0	0	1	0	0	0	12940	1609	56	4	79	4	RAB10	2	26257554	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08		26257554	216941819	26	36024											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|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)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	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	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	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					OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	413						11	413	---	---	---	---	-	26693556	CTT	-	26693554	7	5	108	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-RB-A7B8-01A-12D-A33T-08	436000	26693554	216505819	27	36025											
C2orf28	51374	broad.mit.edu	37	chr2	27438520	27438520	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gatactgccacaacatgtcaActgtcctggaggaattaatg	9	9	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:27438520A>C	ENST00000606999.1	+	5	444	c.386A>C	c.(385-387)aAc>aCc	p.N129T	CAD_ENST00000264705.4_5'Flank|CAD_ENST00000403525.1_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.N71T|ATRAID_ENST00000380171.3_Missense_Mutation_p.N184T	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	129					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CAACATGTCAACTGTCCTGGA	0.418																																						ENST00000380171.3																			0											c.(550-552)aAc>aCc		all-trans retinoic acid-induced differentiation factor							141	138	139					2																	27438520		2203	4300	6503	SO:0001583	missense	51374							g.chr2:27438520A>C	BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"apoptosis-related protein 3"		"chromosome 2 open reading frame 28"	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.386A>C	2.37:g.27438520A>C	ENSP00000476080:p.Asn129Thr					ATRAID_ENST00000606999.1_Missense_Mutation_p.N129T|ATRAID_ENST00000405489.3_Missense_Mutation_p.N71T	p.N184T	NM_080592.3	NP_542159.3					5	728	+								A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	ENST00000606999.1	37	c.551A>C		.	.	.	.	.	.	.	.	.	.	a	0.850	-0.738915	0.03088	.	.	ENSG00000138085	ENST00000380171;ENST00000405489;ENST00000419744	T;T	0.46451	0.87;0.92	5.49	-11.0	0.00169	.	1.608160	0.02821	N	0.125596	T	0.23054	0.0557	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.0;0.023	B;B	0.12837	0.002;0.008	T	0.09640	-1.0665	10	0.27785	T	0.31	-22.0169	8.6324	0.33928	0.6745:0.078:0.1695:0.078	.	129;184	Q6UW56;Q6UW56-3	APR3_HUMAN;.	T	184;71;71	ENSP00000369518:N184T;ENSP00000384033:N71T	ENSP00000369518:N184T	N	+	2	0	C2orf28	27292024	0.000000	0.05858	0.001000	0.08648	0.320000	0.28249	-1.569000	0.02142	-3.391000	0.00173	-1.176000	0.01726	AAC		0.418	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470709.1	NM_016085		9	683	0	0	0	1	0	9	683					C	27438520	A	C	27438520	3	2	108	1	0	0	0	0	1	0	0	0	2167	43	2	4	569	4	C2orf28	2	27438520	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	744966	27438520	215760853	28	36026											
C2orf51	200523	broad.mit.edu	37	chr2	88828748	88828748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacgagggaggacgagcGcaagttcaccagcacctgcc	14	14	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:88828748G>A	ENST00000303254.3	+	4	441	c.299G>A	c.(298-300)cGc>cAc	p.R100H		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	100						nucleus (GO:0005634)											GAGGACGAGCGCAAGTTCACC	0.587																																						ENST00000303254.3																			0											c.(298-300)cGc>cAc		testis expressed 37							144	130	135					2																	88828748		2203	4300	6503	SO:0001583	missense	200523							g.chr2:88828748G>A	AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.299G>A	2.37:g.88828748G>A	ENSP00000307142:p.Arg100His						p.R100H	NM_152670.2	NP_689883.1					4	441	+									Missense_Mutation	SNP	ENST00000303254.3	37	c.299G>A	CCDS2003.1	.	.	.	.	.	.	.	.	.	.	G	3.266	-0.150187	0.06585	.	.	ENSG00000172073	ENST00000303254	T	0.44083	0.93	4.08	-0.218	0.13142	.	2.245710	0.01529	N	0.018709	T	0.22820	0.0551	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	10	0.15066	T	0.55	0.6341	6.7245	0.23348	0.517:0.0:0.483:0.0	.	100	Q96LM6	TSC21_HUMAN	H	100	ENSP00000307142:R100H	ENSP00000307142:R100H	R	+	2	0	C2orf51	88609863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.136000	0.10405	-0.047000	0.13423	-1.450000	0.01041	CGC		0.587	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252682.1	NM_152670		5	623	0	0	0	1	0	5	623					A	88828748	G	A	88828748	3	1	108	1	0	0	0	0	1	0	0	0	2180	1087	38	1	309	1	C2orf51	2	88828748	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	61390228	88828748	154370625	29	36027											
CNNM4	26504	broad.mit.edu	37	chr2	97463316	97463316	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctctgccttcaaggatgCggacaatgagctcaaagtga	10	10	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:97463316C>T	ENST00000377075.2	+	3	1711	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V|MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	538					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						TTCAAGGATGCGGACAATGAG	0.562																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1612-1614)gCg>gTg		cyclin M4							75	69	71					2																	97463316		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97463316C>T	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.1613C>T	2.37:g.97463316C>T	ENSP00000366275:p.Ala538Val					CNNM4_ENST00000540067.1_Missense_Mutation_p.A25V|CNNM4_ENST00000496186.1_3'UTR	p.A538V	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			3	1711	+			538					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1613C>T	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899383	0.33535	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.72505	-0.66	5.25	5.25	0.73442	.	0.737333	0.12913	N	0.428840	T	0.61350	0.2340	L	0.40543	1.245	0.18873	N	0.999981	P;B	0.47841	0.901;0.065	B;B	0.37601	0.254;0.01	T	0.59408	-0.7460	10	0.51188	T	0.08	-2.8163	13.5984	0.62004	0.156:0.844:0.0:0.0	.	25;538	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	V	538;25	ENSP00000366275:A538V	ENSP00000366275:A538V	A	+	2	0	CNNM4	96827043	0.002000	0.14202	0.448000	0.26945	0.001000	0.01503	1.755000	0.38379	2.608000	0.88229	0.655000	0.94253	GCG		0.562	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		5	439	0	0	0	1	0	5	439					T	97463316	C	T	97463316	3	4	108	1	0	0	0	0	1	0	0	0	3624	768	27	1	1623	1	CNNM4	2	97463316	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	8634568	97463316	145736057	30	36028											
VWA3B	200403	broad.mit.edu	37	chr2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtgctggattttggcgGcattctggagggggagcttg	17	6	1	0	rs200875707		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	150										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATTTTGGCGGCATTCTGGAG	0.522																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(448-450)gGc>gAc		von Willebrand factor A domain containing 3B							192	187	189					2																	98736133		1991	4149	6140	SO:0001583	missense	200403							g.chr2:98736133G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.449G>A	2.37:g.98736133G>A	ENSP00000417955:p.Gly150Asp					VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			4	653	+			150					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.449G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	1.464	-0.561569	0.03939	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.35973	1.28;1.28	6.02	-3.25	0.05079	.	1.332560	0.04551	N	0.389819	T	0.19967	0.0480	N	0.17474	0.49	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.17501	-1.0367	10	0.32370	T	0.25	.	4.4567	0.11647	0.553:0.1139:0.2439:0.0893	.	150;150	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	150	ENSP00000401959:G150D;ENSP00000417955:G150D	ENSP00000411168:G150D	G	+	2	0	VWA3B	98102565	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.140000	0.16056	-0.462000	0.06984	-0.150000	0.13652	GGC		0.522	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		7	1056	0	0	0	1	0	7	1056					A	98736133	G	A	98736133	3	1	108	1	0	0	0	0	1	0	0	0	17295	1203	42	2	459	2	VWA3B	2	98736133	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1272817	98736133	144463240	31	36029											
NPAS2	4862	broad.mit.edu	37	chr2	101592029	101592029	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggcagccaccatgccGgtaagtgtgtgaccccaaac	11	14	0	1	rs182348570		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:101592029G>A	ENST00000335681.5	+	14	1677	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	NPAS2_ENST00000542504.1_Splice_Site_p.P529P|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000433012.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	464					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						CCACCATGCCGGTAAGTGTGT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16138	0.0		0.0	False		,,,				2504	0.0					ENST00000335681.5																			0				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						c.e14+1		neuronal PAS domain protein 2							65	62	63					2																	101592029		2203	4300	6503	SO:0001630	splice_region_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101592029G>A	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.1392+1G>A	2.37:g.101592029G>A						AC016738.3_ENST00000446644.1_RNA|NPAS2_ENST00000542504.1_Splice_Site_p.P529_splice|AC016738.3_ENST00000439150.1_RNA	p.P464_splice	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN			14	1677	+			464					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Splice_Site	SNP	ENST00000335681.5	37	c.1392_splice	CCDS2048.1																																																																																				0.622	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3		Silent	6	502	0	0	0	1	0	6	502					A	101592029	G	A	101592029	5	1	108	1	0	0	0	0	0	0	1	0	10605	1130	39	1	1442	1	NPAS2	2	101592029	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2855896	101592029	141607344	32	36030											
SULT1C3	442038	broad.mit.edu	37	chr2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-													gaaaaacgctcccacgatggAaaaaaagccagaactgttta							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:108863685delA	ENST00000329106.2	+	1	35	c.35delA	c.(34-36)gaafs	p.E12fs	SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12					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						CCCACGATGGAAAAAAAGCCA	0.353																																						ENST00000329106.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						c.(34-36)gafs		sulfotransferase family, cytosolic, 1C, member 3							90	96	94					2																	108863685		2203	4300	6503	SO:0001589	frameshift_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863685delA	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.35delA	2.37:g.108863685delA	ENSP00000333310:p.Glu12fs					SULT1C3_ENST00000376700.1_Frame_Shift_Del_p.E12fs	p.E12fs	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN			1	35	+			12					Q6IMI5	Frame_Shift_Del	DEL	ENST00000329106.2	37	c.35delA	CCDS33267.1																																																																																				0.353	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		7	523						7	523	---	---	---	---	-	108863685	A	-	108863685	7	5	108	1	0	1	0	1	0	0	0	0	15430	246	9	0	37	0	SULT1C3	2	108863685	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	7271656	108863685	134335688	33	36031											
RGPD5	727851	broad.mit.edu	37	chr2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-													aaagtgctacttgtttggccAaaaatcacaccacggccctt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	962					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTTTGGCCAAAAATCACAC	0.408																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(2884-2886)ttfs		RANBP2-like and GRIP domain containing 8							80	72	74					2																	113147636		686	1568	2254	SO:0001589	frameshift_variant	727851							g.chr2:113147636delA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.2886delT	2.37:g.113147636delA	ENSP00000306637:p.Phe962fs					RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	p.F962fs	NM_001164463.1	NP_001157935.1					20	3077	-								Q5CZA8	Frame_Shift_Del	DEL	ENST00000302558.3	37	c.2886delT	CCDS46394.1																																																																																				0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		8	1235						8	1235	---	---	---	---	-	113147636	A	-	113147636	7	5	108	1	0	1	0	1	0	0	0	0	13339	127	5	0	13441	0	RGPD5	2	113147636	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	4283951	113147636	130051737	34	36032											
CKAP2L	150468	broad.mit.edu	37	chr2	113514269	113514269	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	attaactgaacttttgcccaAggcttgtttaggaactaaac	7	8	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113514269A>C	ENST00000302450.6	-	4	757	c.679T>G	c.(679-681)Ttg>Gtg	p.L227V	CKAP2L_ENST00000541405.1_Missense_Mutation_p.L62V|CKAP2L_ENST00000481732.1_5'Flank	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	227						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTTTGCCCAAGGCTTGTTTA	0.373																																						ENST00000541405.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(184-186)Ttg>Gtg		cytoskeleton associated protein 2-like							110	114	113					2																	113514269		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514269A>C	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.679T>G	2.37:g.113514269A>C	ENSP00000305204:p.Leu227Val					CKAP2L_ENST00000302450.6_Missense_Mutation_p.L227V	p.L62V			Q8IYA6	CKP2L_HUMAN			4	707	-			227		N -> S (in dbSNP:rs17042344).			A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.184T>G	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330842	0.24167	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.12879	2.64;3.29	5.0	0.984	0.19773	.	0.914293	0.09252	N	0.827794	T	0.14874	0.0359	M	0.64997	1.995	0.25552	N	0.987079	B	0.23540	0.087	B	0.26202	0.067	T	0.32929	-0.9888	10	0.42905	T	0.14	0.472	5.4096	0.16341	0.5372:0.1583:0.0:0.3044	.	227	Q8IYA6	CKP2L_HUMAN	V	62;227	ENSP00000438763:L62V;ENSP00000305204:L227V	ENSP00000305204:L227V	L	-	1	2	CKAP2L	113230740	0.000000	0.05858	0.169000	0.22859	0.861000	0.49209	-0.261000	0.08694	0.062000	0.16340	0.477000	0.44152	TTG		0.373	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		25	414	0	0	0	1	0	25	414					C	113514269	A	C	113514269	3	2	108	1	0	0	0	0	1	0	0	0	3452	69	3	4	1582	4	CKAP2L	2	113514269	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	366633	113514269	129685104	35	36033											
IL1F10	84639	broad.mit.edu	37	chr2	113832336	113832336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctaacagaggcttggcccGcaccaaggtccccattttcc	8	16	0	1	rs142851873		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113832336G>A	ENST00000393197.2	+	3	576	c.155G>A	c.(154-156)cGc>cAc	p.R52H	IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	52						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						GGCTTGGCCCGCACCAAGGTC	0.587																																						ENST00000393197.2																			0				endometrium(1)|lung(6)|ovary(1)	8						c.(154-156)cGc>cAc		interleukin 1 family, member 10 (theta)		G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	89	88		155,155	3.1	0.9	2	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense	IL1F10	NM_032556.5,NM_173161.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	52/153,52/153	113832336	1,13005	2203	4300	6503	SO:0001583	missense	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832336G>A	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.155G>A	2.37:g.113832336G>A	ENSP00000376893:p.Arg52His					IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H	p.R52H	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN			3	576	+			52					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	c.155G>A	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650541	0.67472	2.27E-4	0.0	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.17213	2.29;2.29;2.29	5.1	3.14	0.36123	.	0.282328	0.39083	N	0.001480	T	0.31009	0.0783	M	0.65975	2.015	0.34077	D	0.659159	D;B	0.76494	0.999;0.073	D;B	0.63113	0.911;0.013	T	0.41822	-0.9487	10	0.45353	T	0.12	-7.7042	6.8927	0.24238	0.0958:0.1753:0.729:0.0	.	52;52	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	H	52	ENSP00000341794:R52H;ENSP00000338418:R52H;ENSP00000376893:R52H	ENSP00000338418:R52H	R	+	2	0	IL1F10	113548807	0.612000	0.27000	0.925000	0.36789	0.844000	0.47949	1.084000	0.30828	1.275000	0.44379	0.655000	0.94253	CGC		0.587	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1	NM_173161		6	589	0	0	0	1	0	6	589					A	113832336	G	A	113832336	3	1	108	1	0	0	0	0	1	0	0	0	7682	1087	38	1	165	1	IL1F10	2	113832336	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	318067	113832336	129367037	36	36034											
GLI2	2736	broad.mit.edu	37	chr2	121736099	121736099	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagcccttcaaggcGcagtacatgctggtggtgca	14	10	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:121736099G>A	ENST00000452319.1	+	10	1518	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.A486A|GLI2_ENST00000314490.11_Silent_p.A158A					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)				CCTTCAAGGCGCAGTACATGC	0.642																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1456-1458)gcG>gcA		GLI family zinc finger 2							102	89	93					2																	121736099		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121736099G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1458G>A	2.37:g.121736099G>A						GLI2_ENST00000314490.11_Silent_p.A158A|GLI2_ENST00000361492.4_Silent_p.A486A|GLI2_ENST00000435313.2_3'UTR	p.A486A			P10070	GLI2_HUMAN			10	1518	+	Renal(3;0.0496)	Prostate(154;0.0623)	486						Silent	SNP	ENST00000452319.1	37	c.1458G>A	CCDS33283.1																																																																																				0.642	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		5	585	0	0	0	1	0	5	585					A	121736099	G	A	121736099	2	1	108	1	0	0	0	0	0	0	0	1	6467	1074	38	1		1	GLI2	2	121736099	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	7903763	121736099	121463274	37	36035											
R3HDM1	23518	broad.mit.edu	37	chr2	136409468	136409470	+	In_Frame_Del	DEL	CCA	CCA	-													caccacatcctcctccaccgCcaccaccaccacctcctcct							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136409468_136409470delCCA	ENST00000264160.4	+	17	2159_2161	c.1789_1791delCCA	c.(1789-1791)ccadel	p.P605del	R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)	p.P597P(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		tcctccaccgccaccaccaccac	0.606																																						ENST00000264160.4																			1	Substitution - coding silent(1)	p.P597P(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1789-1791)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409468_136409470delCCA	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1789_1791delCCA	2.37:g.136409477_136409479delCCA	ENSP00000264160:p.Pro605del					R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	p.P605del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2159_2161	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1789_1791delCCA	CCDS2177.1																																																																																				0.606	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		7	463						7	463	---	---	---	---	-	136409470	CCA	-	136409468	7	5	108	1	0	1	0	1	0	0	0	0	12937	739	26	0	1847	0	R3HDM1	2	136409468	In_Frame_Del	DEL	CCA	TCGA-RB-A7B8-01A-12D-A33T-08	14673369	136409468	106789905	38	36036											
LCT	3938	broad.mit.edu	37	chr2	136575286	136575286	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacacctgagcccggaggccGcaaagcagggcgacgtcaga	14	13	1	2	rs370939537		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	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)	CCCGGAGGCCGCAAAGCAGGG	0.647																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1330-1332)tgC>tgT		lactase		G		0,4406		0,0,2203	69	65	66		1332	-11.5	0	2		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		444/1928	136575286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575286G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1332C>T	2.37:g.136575286G>A							p.C444C	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1342	-			444			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1332C>T	CCDS2178.1																																																																																				0.647	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		8	491	0	0	0	1	0	8	491					A	136575286	G	A	136575286	2	1	108	1	0	0	0	0	0	0	0	1	8724	1079	38	1		1	LCT	2	136575286	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	165818	136575286	106624087	39	36037											
SCN1A	6323	broad.mit.edu	37	chr2	166901827	166901827	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctgaggcagttgccGttgctgcctgctatattgaa	11	8	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:166901827G>A	ENST00000303395.4	-	10	1387	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	SCN1A_ENST00000423058.2_Missense_Mutation_p.T463M|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	463					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)	GGCAGTTGCCGTTGCTGCCTG	0.443																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1387-1389)aCg>aTg		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						71	74	73					2																	166901827		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166901827G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1388C>T	2.37:g.166901827G>A	ENSP00000303540:p.Thr463Met					AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T463M|SCN1A_ENST00000303395.4_Missense_Mutation_p.T463M|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.T463M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			10	1405	-			463					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1388C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507602	0.27036	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.37	4.49	0.54785	.	0.572471	0.15627	N	0.252583	T	0.13286	0.0322	N	0.04203	-0.255	0.24301	N	0.99512	B;B;B	0.30021	0.265;0.173;0.173	B;B;B	0.25759	0.063;0.029;0.029	T	0.16305	-1.0407	10	0.37606	T	0.19	.	14.4281	0.67230	0.0709:0.0:0.9291:0.0	.	463;463;463	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	463	ENSP00000407030:T463M;ENSP00000303540:T463M;ENSP00000364554:T463M;ENSP00000386312:T463M	ENSP00000303540:T463M	T	-	2	0	SCN1A	166610073	0.963000	0.33076	0.098000	0.21074	0.070000	0.16714	3.561000	0.53770	1.411000	0.46957	0.655000	0.94253	ACG		0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	496	0	0	0	1	0	6	496					A	166901827	G	A	166901827	3	1	108	1	0	0	0	0	1	0	0	0	13964	1145	40	1	4709	1	SCN1A	2	166901827	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	30326541	166901827	76297546	40	36038											
TTN	7273	broad.mit.edu	37	chr2	179418445	179418445	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atacccagtaacagcactgcCcccatcatagacaggcttac	6	15	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179418445C>A	ENST00000591111.1	-	284	84588	c.84364G>T	c.(84364-84366)Ggc>Tgc	p.G28122C	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G29763C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C			Q8WZ42	TITIN_HUMAN	titin	28122	Fibronectin type-III 105. {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)			ACAGCACTGCCCCCATCATAG	0.483																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(89287-89289)Ggc>Tgc		titin							83	83	83					2																	179418445		2032	4193	6225	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179418445C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84364G>T	2.37:g.179418445C>A	ENSP00000465570:p.Gly28122Cys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28122C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27195C|TTN-AS1_ENST00000438095.1_RNA	p.G29763C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		334	89511	-			28122					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.89287G>T		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939712	0.73557	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84297	0.5441	H	0.95079	3.62	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	0.88293	0.2944	9	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	20698;20823;20890;28122	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27195;20698;20890;20823;20695	ENSP00000343764:G27195C;ENSP00000434586:G20698C;ENSP00000340554:G20890C;ENSP00000352154:G20823C	ENSP00000340554:G20890C	G	-	1	0	TTN	179126691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGC		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	306	1	0	0.248553	1	0.248553	6	306					A	179418445	C	A	179418445	3	1	108	1	0	0	0	0	1	0	0	0	16789	623	22	3	18808	3	TTN	2	179418445	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	12516618	179418445	63780928	41	36039											
ITGA4	3676	broad.mit.edu	37	chr2	182360534	182360534	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agacctgtagtaattgttgaCgcttctttaagccaccctga	8	10	1	3	rs183217259		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:182360534C>T	ENST00000397033.2	+	14	1840	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	470					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)	TAATTGTTGACGCTTCTTTAA	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		21539	0.001		0.0	False		,,,				2504	0.0					ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1408-1410)gaC>gaT		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						127	115	119					2																	182360534		1879	4112	5991	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182360534C>T		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.1410C>T	2.37:g.182360534C>T							p.D470D	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		14	1840	+			470					D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1410C>T	CCDS42788.1																																																																																				0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			54	339	0	0	0	1	0	54	339					T	182360534	C	T	182360534	2	4	108	1	0	0	0	0	0	0	0	1	7908	535	19	1		1	ITGA4	2	182360534	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	2942089	182360534	60838839	42	36040											
COL4A4	1286	broad.mit.edu	37	chr2	227896886	227896886	+	Frame_Shift_Del	DEL	C	C	-													gggggtcctgggggacctttCtttccacgaggacctggagg					rs2229812	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:227896886delC	ENST00000396625.3	-	39	3891	c.3684delG	c.(3682-3684)aagfs	p.K1229fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1229	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)		GGGGACCTTTCTTTCCACGAG	0.522																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(3682-3684)aafs		collagen, type IV, alpha 4							75	77	76					2																	227896886		1844	4079	5923	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227896886delC		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.3684delG	2.37:g.227896886delC	ENSP00000379866:p.Lys1229fs					COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs	p.K1229fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	39	3891	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1229			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3684delG	CCDS42828.1																																																																																				0.522	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		8	607						8	607	---	---	---	---	-	227896886	C	-	227896886	7	5	108	1	0	1	0	1	0	0	0	0	3702	912	32	0	1428	0	COL4A4	2	227896886	Frame_Shift_Del	DEL	C	TCGA-RB-A7B8-01A-12D-A33T-08	45536352	227896886	15302487	43	36041											
COL6A3	1293	broad.mit.edu	37	chr2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagagcacagacctgcaaagCgttgatgagctgccggtctt	12	11	1	4			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:238253001C>T	ENST00000295550.4	-	36	8112	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2554	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)		ACCTGCAAAGCGTTGATGAGC	0.557																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7660-7662)Gct>Act		collagen, type VI, alpha 3							151	155	154					2																	238253001		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253001C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7660G>A	2.37:g.238253001C>T	ENSP00000295550:p.Ala2554Thr					COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T	p.A2554T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	36	8112	-		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)	2554			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7660G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881687	0.51908	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.08	5.08	0.68730	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000069	D	0.90335	0.6976	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.88468	0.3060	10	0.30854	T	0.27	.	18.8647	0.92287	0.0:1.0:0.0:0.0	.	1947;1947;2348;2554	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	2554;2353;2348;1947;2348;2354	ENSP00000295550:A2554T;ENSP00000315609:A2353T;ENSP00000315873:A2348T;ENSP00000418285:A1947T;ENSP00000386844:A2348T;ENSP00000295546:A2354T	ENSP00000295550:A2554T	A	-	1	0	COL6A3	237917740	1.000000	0.71417	0.210000	0.23637	0.878000	0.50629	7.308000	0.78929	2.507000	0.84556	0.655000	0.94253	GCT		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		9	1248	0	0	0	1	0	9	1248					T	238253001	C	T	238253001	3	4	108	1	0	0	0	0	1	0	0	0	3710	768	27	1	1909	1	COL6A3	2	238253001	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	10356115	238253001	4946372	44	36042											
D2HGDH	728294	broad.mit.edu	37	chr2	242695353	242695353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctccctccctgtggagcgGctctacgacatcgtgactga	10	15	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695353G>A	ENST00000321264.4	+	9	1439	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Silent_p.R276R|AC114730.7_ENST00000417267.1_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	410					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGTGGAGCGGCTCTACGACA	0.672																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1228-1230)cgG>cgA		D-2-hydroxyglutarate dehydrogenase							118	95	103					2																	242695353		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242695353G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1230G>A	2.37:g.242695353G>A						D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Silent_p.R276R	p.R410R	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	9	1439	+		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)	410					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.1230G>A	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981055|2.981055	0.53827|0.53827	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000445308	.|.	.|.	.|.	5.31|5.31	1.28|1.28	0.21552|0.21552	.|.	.|.	.|.	.|.	.|.	T|T	0.58409|0.58409	0.2120|0.2120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49303|0.49303	-0.8954|-0.8954	5|4	0.21540|.	T|.	0.41|.	-0.9944|-0.9944	10.3732|10.3732	0.44066|0.44066	0.1261:0.2087:0.6652:0.0|0.1261:0.2087:0.6652:0.0	.|.	.|.	.|.	.|.	T|D	164|209	.|.	ENSP00000383580:A315T|.	A|G	+|+	1|2	0|0	D2HGDH|D2HGDH	242344026|242344026	1.000000|1.000000	0.71417|0.71417	0.338000|0.338000	0.25549|0.25549	0.114000|0.114000	0.19823|0.19823	1.969000|1.969000	0.40510|0.40510	-0.269000|-0.269000	0.09298|0.09298	-1.595000|-1.595000	0.00837|0.00837	GCT|GGC		0.672	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		5	504	0	0	0	1	0	5	504					A	242695353	G	A	242695353	2	1	108	1	0	0	0	0	0	0	0	1	4224	1190	42	2		2	D2HGDH	2	242695353	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4442352	242695353	504020	45	36043			1	27		2	2	14	G		9.574218e-05
D2HGDH	728294	broad.mit.edu	37	chr2	242695366	242695366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagcggctctacgacatcGtgactgacctgcgcgcccgc	13	15	1	2	rs371794611		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695366G>A	ENST00000321264.4	+	9	1452	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M|AC114730.7_ENST00000417267.1_RNA	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	415					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTACGACATCGTGACTGACCT	0.687																																						ENST00000321264.4																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(1243-1245)Gtg>Atg		D-2-hydroxyglutarate dehydrogenase		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102	83	89		1243	5.3	0.1	2		89	0,8592		0,0,4296	no	missense	D2HGDH	NM_152783.3	21	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	415/522	242695366	1,12997	2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242695366G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1243G>A	2.37:g.242695366G>A	ENSP00000315351:p.Val415Met					D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M	p.V415M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	9	1452	+		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)	415					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.1243G>A	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.477180|3.477180	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000321264;ENST00000403782;ENST00000542211	.|D;D	.|0.85773	.|-2.03;-2.03	5.31|5.31	5.31|5.31	0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|0.071537	.|0.56097	.|D	.|0.000031	D|D	0.93585|0.93585	0.7952|0.7952	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.94453|0.94453	0.7669|0.7669	6|10	0.49607|0.87932	T|D	0.09|0	-3.3567|-3.3567	18.9757|18.9757	0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|415	.|Q8N465	.|D2HDH_HUMAN	H|M	168|415;281;35	.|ENSP00000315351:V415M;ENSP00000384723:V281M	ENSP00000383580:R319H|ENSP00000315351:V415M	R|V	+|+	2|1	0|0	D2HGDH|D2HGDH	242344039|242344039	1.000000|1.000000	0.71417|0.71417	0.088000|0.088000	0.20740|0.20740	0.088000|0.088000	0.18126|0.18126	8.597000|8.597000	0.90847|0.90847	2.485000|2.485000	0.83878|0.83878	0.467000|0.467000	0.42956|0.42956	CGT|GTG		0.687	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		81	407	0	0	0	1	0	81	407					A	242695366	G	A	242695366	3	1	108	1	0	0	0	0	1	0	0	0	4224	1145	40	1	1273	1	D2HGDH	2	242695366	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	13	242695366	504007	46	36044			1	27		2	2	14	G		9.574218e-05
SRGAP3	9901	broad.mit.edu	37	chr3	9100157	9100157	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaagcccaaatcacagcaCttggggagaggcaacaacgg	13	10	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:9100157C>T	ENST00000383836.3	-	7	1229		c.e7-1		SRGAP3_ENST00000360413.3_Splice_Site|SRGAP3_ENST00000433332.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						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)		AATCACAGCACTTGGGGAGAG	0.577			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.e7-1		SLIT-ROBO Rho GTPase activating protein 3							68	64	65					3																	9100157		2203	4300	6503	SO:0001630	splice_region_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9100157C>T	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.802-1G>A	3.37:g.9100157C>T						SRGAP3_ENST00000433332.3_Splice_Site|SRGAP3_ENST00000360413.3_Splice_Site		NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	7	1229	-								Q8IX13|Q8IZV8	Splice_Site	SNP	ENST00000383836.3	37		CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424679	0.83667	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1098	0.93312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRGAP3	9075157	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	7.663000	0.83820	2.596000	0.87737	0.650000	0.86243	.		0.577	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		Intron	8	374	0	0	0	1	0	8	374					T	9100157	C	T	9100157	5	4	108	1	0	0	0	0	0	0	1	0	15199	579	20	2	2597	2	SRGAP3	3	9100157	Splice_Site	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		9100157	188922273	47	36045											
RBM15B	29890	broad.mit.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-													catggggctgaggaacggggCcaccaccaccaccaccacga					rs147738916	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		8	207						8	207	---	---	---	---	-	51430824	CCA	-	51430822	7	5	108	1	0	1	0	1	0	0	0	0	13167	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-RB-A7B8-01A-12D-A33T-08	42330665	51430822	146591608	48	36046											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	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		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		8	525						8	525	---	---	---	---	-	53529195	GAT	-	53529193	7	5	108	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-RB-A7B8-01A-12D-A33T-08	2098371	53529193	144493237	49	36047											
CACNA1D	776	broad.mit.edu	37	chr3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcagcgctgccctggccGcagaggaccccatccgcagc	13	17	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53769492G>A	ENST00000350061.5	+	20	3224	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A925T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	905					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)	TGCCCTGGCCGCAGAGGACCC	0.627																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(2773-2775)Gca>Aca		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						84	71	76					3																	53769492		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53769492G>A	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.2713G>A	3.37:g.53769492G>A	ENSP00000288133:p.Ala905Thr					CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	p.A925T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	21	2891	+			905					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.2773G>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595482	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.46	4.58	0.56647	.	0.066144	0.64402	N	0.000015	D	0.98601	0.9532	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;P;D;P	0.79108	0.988;0.659;0.992;0.816	D	0.99655	1.0992	10	0.87932	D	0	.	16.7269	0.85424	0.0:0.1292:0.8708:0.0	.	905;598;905;925	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	905;925;905;598	ENSP00000288133:A905T;ENSP00000288139:A925T;ENSP00000409174:A905T;ENSP00000418014:A598T	ENSP00000288139:A925T	A	+	1	0	CACNA1D	53744532	1.000000	0.71417	0.106000	0.21319	0.197000	0.23852	7.906000	0.87423	1.407000	0.46875	0.555000	0.69702	GCA		0.627	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	456	0	0	0	1	0	5	456					A	53769492	G	A	53769492	3	1	108	1	0	0	0	0	1	0	0	0	2548	1087	38	1	2963	1	CACNA1D	3	53769492	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	240299	53769492	144252938	50	36048											
GTPBP8	29083	broad.mit.edu	37	chr3	112710121	112710121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggccactgaacggaaccGcatcgactacgtcagctccg	10	16	1	1	rs372770061		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:112710121G>A	ENST00000383678.2	+	1	357	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.R92H|GTPBP8_ENST00000473129.1_5'Flank|RP11-484K9.4_ENST00000609673.1_RNA	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	92					barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GAACGGAACCGCATCGACTAC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14687	0.0		0.0	False		,,,				2504	0.001					ENST00000383677.3																			0				kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						c.(274-276)cGc>cAc		GTP-binding protein 8 (putative)		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	41	39	40		275,275	5.2	1	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GTPBP8	NM_014170.2,NM_138485.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	92/285,92/252	112710121	1,13005	2203	4300	6503	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112710121G>A	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.275G>A	3.37:g.112710121G>A	ENSP00000373176:p.Arg92His					GTPBP8_ENST00000383678.2_Missense_Mutation_p.R92H	p.R92H	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN			1	290	+			92					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.275G>A	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494060	0.64186	0.0	1.16E-4	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.48836	2.35;0.8	6.08	5.19	0.71726	.	0.293519	0.38897	N	0.001533	T	0.61022	0.2314	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.67382	0.951;0.821	T	0.64093	-0.6488	10	0.56958	D	0.05	-1.0752	5.3975	0.16276	0.0749:0.1445:0.6305:0.1501	.	92;92	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	H	92	ENSP00000373176:R92H;ENSP00000373175:R92H	ENSP00000295864:R92H	R	+	2	0	GTPBP8	114192811	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	2.285000	0.43487	1.564000	0.49628	0.655000	0.94253	CGC		0.647	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		5	384	0	0	0	1	0	5	384					A	112710121	G	A	112710121	3	1	108	1	0	0	0	0	1	0	0	0	6914	1087	38	1	277	1	GTPBP8	3	112710121	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	58940629	112710121	85312309	51	36049											
WDR52	55779	broad.mit.edu	37	chr3	113098247	113098249	+	In_Frame_Del	DEL	TCC	TCC	-													tttcaggtaatggctcttctTcctcctcctcctcctctttc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:113098247_113098249delTCC	ENST00000295868.2	-	17	2364_2366	c.2202_2204delGGA	c.(2200-2205)gaggaa>gaa	p.734_735EE>E	WDR52_ENST00000393845.2_In_Frame_Del_p.734_735EE>E|WDR52_ENST00000475568.1_5'Flank	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						TGGctcttcttcctcctcctcct	0.458																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(2200-2205)gaa>ga		WD repeat domain 52																																				SO:0001651	inframe_deletion	55779							g.chr3:113098247_113098249delTCC																												ENST00000295868.2:c.2202_2204delGGA	3.37:g.113098256_113098258delTCC	ENSP00000295868:p.Glu737del					WDR52_ENST00000295868.2_In_Frame_Del_p.EE736del	p.EE736del	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			17	2268_2270	-			736			Glu-rich.			In_Frame_Del	DEL	ENST00000295868.2	37	c.2202_2204delGGA	CCDS2972.1																																																																																				0.458	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			7	488						7	488	---	---	---	---	-	113098249	TCC	-	113098247	7	5	108	1	0	1	0	1	0	0	0	0	17358	1783	62	0	3451	0	WDR52	3	113098247	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	388126	113098247	84924183	52	36050											
WDR52	55779	broad.mit.edu	37	chr3	113145015	113145015	+	Frame_Shift_Del	DEL	A	A	-													atgtttgaatccagagtcacAaaaggcatcgaagcaagctc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:113145015delA	ENST00000295868.2	-	4	525	c.363delT	c.(361-363)tttfs	p.F121fs	WDR52_ENST00000393845.2_Frame_Shift_Del_p.F121fs|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CCAGAGTCACAAAAGGCATCG	0.408																																						ENST00000393845.2																			0				breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.(361-363)ttfs		WD repeat domain 52							235	239	238					3																	113145015		2203	4300	6503	SO:0001589	frameshift_variant	55779							g.chr3:113145015delA																												ENST00000295868.2:c.363delT	3.37:g.113145015delA	ENSP00000295868:p.Phe121fs					WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000295868.2_Frame_Shift_Del_p.F121fs	p.F121fs	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN			4	429	-			121						Frame_Shift_Del	DEL	ENST00000295868.2	37	c.363delT	CCDS2972.1																																																																																				0.408	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			7	1659						7	1659	---	---	---	---	-	113145015	A	-	113145015	7	5	108	1	0	1	0	1	0	0	0	0	17358	127	5	0	5344	0	WDR52	3	113145015	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	46768	113145015	84877415	53	36051											
GSK3B	2932	broad.mit.edu	37	chr3	119595270	119595270	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctaactcaccttagtccaaGgatgtgccttaatttgaggg	9	9	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:119595270G>A	ENST00000264235.8	-	8	1881	c.899C>T	c.(898-900)cCt>cTt	p.P300L	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTTAGTCCAAGGATGTGCCTT	0.333																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(898-900)cCt>cTt		glycogen synthase kinase 3 beta	Lithium(DB01356)						152	142	145					3																	119595270		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119595270G>A	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.899C>T	3.37:g.119595270G>A	ENSP00000264235:p.Pro300Leu					GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L|GSK3B_ENST00000473886.1_5'UTR	p.P300L	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	8	1881	-			300			Protein kinase.		D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.899C>T	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414006	0.62511	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.41400	1.0;1.0	4.62	4.62	0.57501	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	0.39118	0.1066	L	0.43152	1.355	0.80722	D	1	B;P	0.38129	0.416;0.619	B;B	0.36335	0.222;0.142	T	0.45789	-0.9237	10	0.72032	D	0.01	-6.4785	18.0111	0.89224	0.0:0.0:1.0:0.0	.	300;300	P49841;P49841-2	GSK3B_HUMAN;.	L	300;300;17	ENSP00000264235:P300L;ENSP00000324806:P300L	ENSP00000264235:P300L	P	-	2	0	GSK3B	121077960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.561000	0.86390	0.650000	0.86243	CCT		0.333	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			6	423	0	0	0	1	0	6	423					A	119595270	G	A	119595270	3	1	108	1	0	0	0	0	1	0	0	0	6854	1000	35	2	422	2	GSK3B	3	119595270	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	6450255	119595270	78427160	54	36052											
MYLK	4638	broad.mit.edu	37	chr3	123428605	123428605	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agagctgcagagacagacctGacacttggacagtcatagtg	12	9	1	4			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:123428605G>A	ENST00000475616.1	-	11	1939	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L|MYLK_ENST00000360772.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L			Q15746	MYLK_HUMAN	myosin light chain kinase	647	Ig-like C2-type 5.				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)		AGACAGACCTGACACTTGGAC	0.537																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1939-1941)tCa>tTa		myosin light chain kinase							245	262	256					3																	123428605		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123428605G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1940C>T	3.37:g.123428605G>A	ENSP00000418335:p.Ser647Leu					MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L|MYLK_ENST00000475616.1_Missense_Mutation_p.S647L|MYLK_ENST00000346322.5_Missense_Mutation_p.S578L	p.S647L			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	15	2318	-		Lung NSC(201;0.0496)	647			Ig-like C2-type 5.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1940C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887908	0.91814	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70675	0.3251	L	0.28649	0.875	0.80722	D	1	P;B;D;P;P	0.55172	0.944;0.355;0.97;0.858;0.955	P;B;P;P;P	0.60541	0.804;0.171;0.804;0.491;0.876	T	0.66806	-0.5830	9	0.27082	T	0.32	.	18.5896	0.91204	0.0:0.0:1.0:0.0	.	647;578;647;578;647	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	L	647;647;647;578;647	ENSP00000354004:S647L;ENSP00000353452:S647L;ENSP00000352088:S647L;ENSP00000320622:S578L;ENSP00000418335:S647L	ENSP00000320622:S578L	S	-	2	0	MYLK	124911295	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.742000	0.68646	2.622000	0.88805	0.650000	0.86243	TCA		0.537	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		19	2011	0	0	0	1	0	19	2011					A	123428605	G	A	123428605	3	1	108	1	0	0	0	0	1	0	0	0	10097	1294	45	2	3888	2	MYLK	3	123428605	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3833335	123428605	74593825	55	36053											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	20	2	0	4			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		6	456	0	0	0	1	0	6	456					A	129695840	G	A	129695840	2	1	108	1	0	0	0	0	0	0	0	1	16531	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	6267235	129695840	68326590	56	36054											
EPHB1	2047	broad.mit.edu	37	chr3	134873067	134873067	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgtcatggccacagccGgagcagcccaatggcatcat	10	14	2	0	rs534067316		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	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						GGCCACAGCCGGAGCAGCCCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20256	0.001		0.0	False		,,,				2504	0.0					ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1369-1371)ccG>ccA		EPH receptor B1							139	148	145					3																	134873067		2194	4298	6492	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873067G>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1371G>A	3.37:g.134873067G>A						EPHB1_ENST00000493838.1_Silent_p.P18P	p.P457P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			6	1741	+			457			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1371G>A	CCDS46921.1																																																																																				0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		6	918	0	0	0	1	0	6	918					A	134873067	G	A	134873067	2	1	108	1	0	0	0	0	0	0	0	1	5192	1103	39	1		1	EPHB1	3	134873067	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	5177227	134873067	63149363	57	36055											
ZBTB38	253461	broad.mit.edu	37	chr3	141163339	141163339	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtaatagcagtgagaatgcCgcctctgtgatcagctacag	11	9	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:141163339C>T	ENST00000514251.1	+	4	2388	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A					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						GTGAGAATGCCGCCTCTGTGA	0.498																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(2107-2109)gcC>gcT		zinc finger and BTB domain containing 38							80	83	82					3																	141163339		2051	4205	6256	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163339C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2109C>T	3.37:g.141163339C>T						ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A	p.A703A			Q8NAP3	ZBT38_HUMAN			4	2388	+			703						Silent	SNP	ENST00000514251.1	37	c.2109C>T	CCDS43157.1																																																																																				0.498	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			54	690	0	0	0	1	0	54	690					T	141163339	C	T	141163339	2	4	108	1	0	0	0	0	0	0	0	1	17592	639	23	1		1	ZBTB38	3	141163339	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6290272	141163339	56859091	58	36056											
DHX36	170506	broad.mit.edu	37	chr3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T													tctgttcctgattctaaacaINStttttttttcttgatttatc					rs373108427		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					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)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	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.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		8	309						8	309	---	---	---	---	T	154032978	-	T	154032977	7	5	108	1	0	1	1	0	0	0	0	0	4525	217	8	0	2657	0	DHX36	3	154032977	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	12869638	154032977	43989453	59	36057											
SLC7A14	57709	broad.mit.edu	37	chr3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacaaagcaccagaccGcaaaccggatccatgtgatg	8	14	0	2	rs200600060		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.A659V(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1975-1977)gCg>gTg		solute carrier family 7, member 14		G	VAL/ALA	0,4406		0,0,2203	101	107	105		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.A659V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2291	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		8	789	0	0	0	1	0	8	789					A	170198095	G	A	170198095	3	1	108	1	0	0	0	0	1	0	0	0	14746	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	16165118	170198095	27824335	60	36058											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	9	5	2	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:178952072A>T	ENST00000263967.3	+	21	3284	c.3127A>T	c.(3127-3129)Atg>Ttg	p.M1043L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			"E, O"			"colorectal, gastric, gliobastoma, breast"		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)Atg>Ttg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97	87	91					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>T	3.37:g.178952072A>T	ENSP00000263967:p.Met1043Leu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043L	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.313034	0.40895	.	.	ENSG00000121879	ENST00000263967	T	0.79845	-1.31	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	0.61464	0.2349	N	0.01761	-0.735	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59674	-0.7410	10	0.46703	T	0.11	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	L	1043	ENSP00000263967:M1043L	ENSP00000263967:M1043L	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			160	318	0	0	0	1	0	160	318					T	178952072	A	T	178952072	3	4	108	1	0	0	0	0	1	0	0	0	11955	101	4	5	3205	5	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	8753977	178952072	19070358	61	36059											
ATP11B	23200	broad.mit.edu	37	chr3	182577061	182577085	+	Frame_Shift_Del	DEL	ATTGGCTGGGATCTTGATCTGTATC	ATTGGCTGGGATCTTGATCTGTATC	-													aatttcttggatcattttttAttggctgggatcttgatctg					rs567276883|rs148742494		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	ENST00000323116.5	+	12	1374_1398	c.1114_1138delATTGGCTGGGATCTTGATCTGTATC	c.(1114-1140)attggctgggatcttgatctgtatcatfs	p.IGWDLDLYH372fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	372					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)			ATCATTTTTTATTGGCTGGGATCTTGATCTGTATCATGAAGAATC	0.333																																						ENST00000323116.5																			0				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						c.(1114-1140)atfs		ATPase, class VI, type 11B																																				SO:0001589	frameshift_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	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.1114_1138delATTGGCTGGGATCTTGATCTGTATC	3.37:g.182577061_182577085delATTGGCTGGGATCTTGATCTGTATC	ENSP00000321195:p.Ile372fs						p.IGWDLDLYH372fs	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	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)		12	1374_1398	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		372					Q96FN1|Q9UKK7	Frame_Shift_Del	DEL	ENST00000323116.5	37	c.1114_1138delATTGGCTGGGATCTTGATCTGTATC	CCDS33896.1																																																																																				0.333	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		7	158						7	158	---	---	---	---	-	182577085	ATTGGCTGGGATCTTGATCTGTATC	-	182577061	7	5	108	1	0	1	0	1	0	0	0	0	1121	449	16	0	1160	0	ATP11B	3	182577061	Frame_Shift_Del	DEL	ATTGGCTGGGATCTTGATCTGTATC	TCGA-RB-A7B8-01A-12D-A33T-08	3624989	182577061	15445369	62	36060											
OPA1	4976	broad.mit.edu	37	chr3	193366601	193366601	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tagaatgaactatttgaaaaAgctaaaaatgaaatccttga	6	4	0	5			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:193366601A>C	ENST00000392438.3	+	19	2022	c.1788A>C	c.(1786-1788)aaA>aaC	p.K596N	OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N|OPA1_ENST00000361510.2_Missense_Mutation_p.K651N|OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361908.3_Missense_Mutation_p.K633N	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	596					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)		TATTTGAAAAAGCTAAAAATG	0.308																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1951-1953)aaA>aaC		optic atrophy 1 (autosomal dominant)							81	92	88					3																	193366601		2202	4295	6497	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193366601A>C	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.1788A>C	3.37:g.193366601A>C	ENSP00000376233:p.Lys596Asn					OPA1_ENST00000361908.3_Missense_Mutation_p.K633N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000392438.3_Missense_Mutation_p.K596N|OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N	p.K651N	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	21	2187	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		596					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1953A>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985177	0.74474	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96041	-3.48;-3.47;-3.44;-3.46;-3.49;-3.89	6.08	-4.14	0.03892	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.993;0.999;0.996;0.996;0.999;0.996;0.999;0.998	D;D;D;D;D;D;D;D	0.70487	0.933;0.922;0.969;0.969;0.942;0.969;0.941;0.969	D	0.94142	0.7398	10	0.56958	D	0.05	-27.0205	12.8665	0.57941	0.541:0.0:0.459:0.0	.	560;596;578;597;614;633;615;651	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	N	633;596;651;615;614;597	ENSP00000354681:K633N;ENSP00000376233:K596N;ENSP00000355324:K651N;ENSP00000355311:K615N;ENSP00000354429:K614N;ENSP00000354781:K597N	ENSP00000354781:K597N	K	+	3	2	OPA1	194849295	0.998000	0.40836	0.922000	0.36590	0.981000	0.71138	0.731000	0.26058	-1.012000	0.03387	-0.408000	0.06270	AAA		0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		32	505	0	0	0	1	0	32	505					C	193366601	A	C	193366601	3	2	108	1	0	0	0	0	1	0	0	0	10913	69	3	4	2035	4	OPA1	3	193366601	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	10789540	193366601	4655829	63	36061											
GRK4	2868	broad.mit.edu	37	chr4	3015458	3015458	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggaaaaatgtatgcctGcaaaaagctacaaaaaaaaa	6	7	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:3015458G>A	ENST00000398052.4	+	8	987	c.644G>A	c.(643-645)tGc>tAc	p.C215Y	GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y|GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y|GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGTATGCCTGCAAAAAGCTA	0.393																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(643-645)tGc>tAc		G protein-coupled receptor kinase 4							141	151	148					4																	3015458		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3015458G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.644G>A	4.37:g.3015458G>A	ENSP00000381129:p.Cys215Tyr					GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y|GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y|GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y	p.C215Y	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	987	+			215			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.644G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407065	0.83230	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.67	4.67	0.58626	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	U	0.000000	T	0.45935	0.1367	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.67145	0.991;0.969;0.988;0.996	P;P;P;P	0.58820	0.734;0.846;0.734;0.827	T	0.51100	-0.8748	10	0.87932	D	0	-11.636	16.619	0.84925	0.0:0.0:1.0:0.0	.	183;183;215;215	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	Y	183;215;183;215	ENSP00000381128:C183Y;ENSP00000381129:C215Y;ENSP00000264764:C183Y;ENSP00000427445:C215Y	ENSP00000264764:C183Y	C	+	2	0	GRK4	2985256	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.500000	0.97977	2.151000	0.67156	0.585000	0.79938	TGC		0.393	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		7	922	0	0	0	1	0	7	922					A	3015458	G	A	3015458	3	1	108	1	0	0	0	0	1	0	0	0	6821	1319	46	2	674	2	GRK4	4	3015458	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		3015458	188138818	64	36062											
GPR78	27201	broad.mit.edu	37	chr4	8582937	8582937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcggacaccgtcggcgccCggcgcatgccaagtcattgg	16	14	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:8582937C>T	ENST00000382487.4	+	1	645	c.228C>T	c.(226-228)ccC>ccT	p.P76P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	76					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						CGTCGGCGCCCGGCGCATGCC	0.687																																						ENST00000382487.4																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(226-228)ccC>ccT		G protein-coupled receptor 78							15	18	17					4																	8582937		2200	4294	6494	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8582937C>T	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.228C>T	4.37:g.8582937C>T						GPR78_ENST00000509216.1_Intron	p.P76P	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			1	645	+			76					Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.228C>T	CCDS3403.1																																																																																				0.687	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			15	85	0	0	0	1	0	15	85					T	8582937	C	T	8582937	2	4	108	1	0	0	0	0	0	0	0	1	6739	639	23	1		1	GPR78	4	8582937	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	5567479	8582937	182571339	65	36063											
SLC34A2	10568	broad.mit.edu	37	chr4	25678148	25678150	+	In_Frame_Del	DEL	GCT	GCT	-													caccggctgcttccagatgcGctgctgctgctgctgccgcg							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:25678148_25678150delGCT	ENST00000382051.3	+	13	1900_1902	c.1850_1852delGCT	c.(1849-1854)cgctgc>cgc	p.C622del	SLC34A2_ENST00000504570.1_In_Frame_Del_p.C621del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.C621del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCAGATGCgctgctgctgctg	0.64			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"solute carrier family 34 (sodium phosphate), member 2"			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1849-1854)cgc>c		solute carrier family 34 (type II sodium/phosphate contransporter), member 2																																				SO:0001651	inframe_deletion	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678148_25678150delGCT	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"Solute carriers"	11020	protein-coding gene	gene with protein product		604217	"solute carrier family 34 (sodium phosphate), member 2"			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1850_1852delGCT	4.37:g.25678157_25678159delGCT	ENSP00000371483:p.Cys622del					SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del	p.RC617del	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	1900_1902	+		Breast(46;0.0503)	617			Cys-rich.		A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	In_Frame_Del	DEL	ENST00000382051.3	37	c.1850_1852delGCT	CCDS3435.1																																																																																				0.64	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		8	329						8	329	---	---	---	---	-	25678150	GCT	-	25678148	7	5	108	1	0	1	0	1	0	0	0	0	14618	1087	38	0	1896	0	SLC34A2	4	25678148	In_Frame_Del	DEL	GCT	TCGA-RB-A7B8-01A-12D-A33T-08	17095211	25678148	165476128	66	36064											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984154	41984154	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcccttcgttccacgtgtaCgtgctcagaaacctctacgt	7	14	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(343-345)taC>taT		DDB1 and CUL4 associated factor 4-like 1							105	97	100					4																	41984154		2203	4300	6503	SO:0001819	synonymous_variant	285429							g.chr4:41984154C>T	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.345C>T	4.37:g.41984154C>T							p.Y115Y	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	442	+			115					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	ENST00000333141.5	37	c.345C>T	CCDS33978.1																																																																																				0.562	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		67	399	0	0	0	1	0	67	399					T	41984154	C	T	41984154	2	4	108	1	0	0	0	0	0	0	0	1	4282	547	19	1		1	DCAF4L1	4	41984154	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	16306006	41984154	149170122	67	36065											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		7	414						7	414	---	---	---	---	-	146077125	CAG	-	146077123	7	5	108	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-RB-A7B8-01A-12D-A33T-08	104092969	146077123	45077153	68	36066											
SORBS2	8470	broad.mit.edu	37	chr4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggatgctgttgtccgGcaagctcccccttttctttt	10	12	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					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)	p.P752S(1)		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)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141	161	154					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		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.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		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)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		7	1364	0	0	0	1	0	7	1364					A	186544317	G	A	186544317	3	1	108	1	0	0	0	0	1	0	0	0	14978	1203	42	2	1084	2	SORBS2	4	186544317	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	40467194	186544317	4609959	69	36067											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	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.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	1006						7	1006	---	---	---	---	-	24492973	A	-	24492973	7	5	108	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08		24492973	156422287	70	36068											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			8	791						8	791	---	---	---	---	-	32090061	TCC	-	32090059	7	5	108	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	7597086	32090059	148825201	71	36069											
RASGRF2	5924	broad.mit.edu	37	chr5	80409566	80409568	+	In_Frame_Del	DEL	CCA	CCA	-													cctgacaacttccagcagtcCcaccaccaccacccagagtc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:80409566_80409568delCCA	ENST00000265080.4	+	15	2364_2366	c.2297_2299delCCA	c.(2296-2301)cccacc>ccc	p.T770del	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	770					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)		TCCAGCAGTCCCACCACCACCAC	0.562																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2296-2301)ccc>c		Ras protein-specific guanine nucleotide-releasing factor 2																																				SO:0001651	inframe_deletion	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409566_80409568delCCA	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.2297_2299delCCA	5.37:g.80409575_80409577delCCA	ENSP00000265080:p.Thr770del					CTD-2193P3.2_ENST00000508993.1_RNA	p.PT766del	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2364_2366	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	766					B9EG89|Q9UK56	In_Frame_Del	DEL	ENST00000265080.4	37	c.2297_2299delCCA	CCDS4052.1																																																																																				0.562	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		8	465						8	465	---	---	---	---	-	80409568	CCA	-	80409566	7	5	108	1	0	1	0	1	0	0	0	0	13123	623	22	0	2355	0	RASGRF2	5	80409566	In_Frame_Del	DEL	CCA	TCGA-RB-A7B8-01A-12D-A33T-08	48319507	80409566	100505694	72	36070											
AFF4	27125	broad.mit.edu	37	chr5	132270259	132270259	+	Frame_Shift_Del	DEL	T	T	-													tgttctgatccatgctggccTtttttccggctactgctccc					rs35626495		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:132270259delT	ENST00000265343.5	-	3	877	c.498delA	c.(496-498)aaafs	p.K166fs	AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	166	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)			CATGCTGGCCTTTTTTCCGGC	0.512																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(496-498)aafs		AF4/FMR2 family, member 4							164	160	161					5																	132270259		2203	4300	6503	SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270259delT	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.498delA	5.37:g.132270259delT	ENSP00000265343:p.Lys166fs					AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs	p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	877	-		all_cancers(142;0.145)|Breast(839;0.198)	166			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	37	c.498delA	CCDS4164.1																																																																																				0.512	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		8	797						8	797	---	---	---	---	-	132270259	T	-	132270259	7	5	108	1	0	1	0	1	0	0	0	0	359	1606	56	0	3069	0	AFF4	5	132270259	Frame_Shift_Del	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	51860693	132270259	48645001	73	36071											
PCDHA12	56137	broad.mit.edu	37	chr5	140257259	140257259	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgtgagccggtgcgcgccGggcaagcccacgctggtgtg	17	14	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	734	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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2200-2202)ccG>ccA									28	28	28					5																	140257259		2201	4300	6501	SO:0001819	synonymous_variant	0							g.chr5:140257259G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2202G>A	5.37:g.140257259G>A						PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.P734P	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2202	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2202G>A	CCDS47285.1																																																																																				0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		54	177	0	0	0	1	0	54	177					A	140257259	G	A	140257259	2	1	108	1	0	0	0	0	0	0	0	1	11564	1103	39	1		1	PCDHA12	5	140257259	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	7987000	140257259	40658001	74	36072											
PCDHB11	56125	broad.mit.edu	37	chr5	140581503	140581503	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgcaggaggagcagggCggcctcggtgggaagctgct	20	9	0	0	rs200787309		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140581503C>T	ENST00000354757.3	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	719					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.652																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(2155-2157)gCg>gTg				C	VAL/ALA	0,4406		0,0,2203	94	103	100		2156	0.7	0	5		100	2,8598	1.2+/-3.3	0,2,4298	no	missense	PCDHB11	NM_018931.2	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	719/798	140581503	2,13004	2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581503C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2156C>T	5.37:g.140581503C>T	ENSP00000346802:p.Ala719Val					PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	p.A719V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2156	+			719					B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.2156C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	12.20	1.867239	0.32977	0.0	2.33E-4	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.17528	2.27;2.27	2.77	0.731	0.18277	.	.	.	.	.	T	0.19846	0.0477	M	0.88031	2.925	0.09310	N	1	P	0.36599	0.56	B	0.22880	0.042	T	0.14952	-1.0454	9	0.72032	D	0.01	.	6.2507	0.20843	0.2201:0.5842:0.1957:0.0	.	719	Q9Y5F2	PCDBB_HUMAN	V	354;719	ENSP00000440344:A354V;ENSP00000346802:A719V	ENSP00000346802:A719V	A	+	2	0	PCDHB11	140561687	0.000000	0.05858	0.004000	0.12327	0.229000	0.25112	-0.444000	0.06854	0.020000	0.15106	0.549000	0.68633	GCG		0.652	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		165	962	0	0	0	1	0	165	962					T	140581503	C	T	140581503	3	4	108	1	0	0	0	0	1	0	0	0	11578	768	27	1	2158	1	PCDHB11	5	140581503	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	324244	140581503	40333757	75	36073											
SH3RF2	153769	broad.mit.edu	37	chr5	145435652	145435652	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atttcagaaggtgatccacgGcaaagccgtcccttcaaatc	8	12	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:145435652G>A	ENST00000511217.1	+	7	1483	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_ENST00000359120.4_Silent_p.R477R|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	477			R -> Q (in dbSNP:rs35165046).		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)			GTGATCCACGGCAAAGCCGTC	0.562																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1429-1431)cgG>cgA		SH3 domain containing ring finger 2							136	129	132					5																	145435652		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145435652G>A	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.1431G>A	5.37:g.145435652G>A						SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.R477R	p.R477R			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1483	+			477		R -> Q (in dbSNP:rs35165046).			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1431G>A	CCDS4280.1																																																																																				0.562	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		6	872	0	0	0	1	0	6	872					A	145435652	G	A	145435652	2	1	108	1	0	0	0	0	0	0	0	1	14309	1190	42	2		2	SH3RF2	5	145435652	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4854149	145435652	35479608	76	36074											
HNRNPH1	3187	broad.mit.edu	37	chr5	179044053	179044053	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcctagcatttggctaccGtaagcaccaccgcttgctcc	7	17	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:179044053G>A	ENST00000356731.5	-	9	2651	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372Y|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TTTGGCTACCGTAAGCACCAC	0.373																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.e9+1		heterogeneous nuclear ribonucleoprotein H1 (H)							105	102	103					5																	179044053		2203	4300	6503	SO:0001630	splice_region_variant	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179044053G>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1117+1C>T	5.37:g.179044053G>A						HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice	p.Y372_splice			P31943	HNRH1_HUMAN			9	2651	-			372			2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.		B3KW86|D3DWQ2|Q6IBM4	Splice_Site	SNP	ENST00000356731.5	37	c.1117_splice	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.960606	0.34565	.	.	ENSG00000169045	ENST00000521173	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.58750	0.2144	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57271	-0.7840	4	.	.	.	-9.1144	8.0021	0.30304	0.192:0.0:0.808:0.0	.	.	.	.	M	247	.	.	T	-	2	0	HNRNPH1	178976659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.877000	0.28106	2.730000	0.93505	0.644000	0.83932	ACG		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520	Silent	6	520	0	0	0	1	0	6	520					A	179044053	G	A	179044053	5	1	108	1	0	0	0	0	0	0	1	0	7296	1159	40	1	249	1	HNRNPH1	5	179044053	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	33608401	179044053	1871207	77	36075											
SLC22A23	63027	broad.mit.edu	37	chr6	3287312	3287312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagcagtggtggatccCgtaccccgtcagcctgtgga	14	12	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:3287312C>T	ENST00000406686.3	-	7	1326	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R	PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000436008.2_Missense_Mutation_p.G443R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R	NM_015482.1	NP_056297.1	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	443					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGGTGGATCCCGTACCCCGTC	0.632																																						ENST00000436008.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1327-1329)Ggg>Agg		solute carrier family 22, member 23							104	76	86					6																	3287312		2203	4300	6503	SO:0001583	missense	63027				ion transport	integral to membrane	transmembrane transporter activity	g.chr6:3287312C>T	AJ420525	CCDS34331.1, CCDS47363.1, CCDS75389.1	6p25.2	2013-05-22	2008-01-11	2008-01-11	ENSG00000137266	ENSG00000137266		"Solute carriers"	21106	protein-coding gene	gene with protein product		611697	"chromosome 6 open reading frame 85"	C6orf85		17714910	Standard	NM_015482		Approved	FLJ22174	uc003mvm.3	A1A5C7	OTTHUMG00000014144	ENST00000406686.3:c.1327G>A	6.37:g.3287312C>T	ENSP00000385028:p.Gly443Arg					SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Missense_Mutation_p.G443R	p.G443R			A1A5C7	S22AN_HUMAN			7	1789	-	Ovarian(93;0.0493)	all_hematologic(90;0.0905)	443					A1A5C8|Q5T8B8|Q6ZMH3|Q8IW73	Missense_Mutation	SNP	ENST00000406686.3	37	c.1327G>A	CCDS47363.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754114	0.89843	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.4	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82043	-0.0653	10	0.62326	D	0.03	-24.5244	17.1854	0.86865	0.0:1.0:0.0:0.0	.	443;443	C9J4Z0;A1A5C7	.;S22AN_HUMAN	R	443;443;162;162;271;269	ENSP00000410245:G443R;ENSP00000385028:G443R;ENSP00000369657:G162R;ENSP00000419463:G162R;ENSP00000418134:G271R;ENSP00000418985:G269R	ENSP00000369657:G162R	G	-	1	0	SLC22A23	3232311	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	7.151000	0.77411	2.284000	0.76573	0.655000	0.94253	GGG		0.632	SLC22A23-006	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353059.1	NM_021945		32	137	0	0	0	1	0	32	137					T	3287312	C	T	3287312	3	4	108	1	0	0	0	0	1	0	0	0	14502	652	23	1	749	1	SLC22A23	6	3287312	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		3287312	167827755	78	36076											
F13A1	2162	broad.mit.edu	37	chr6	6318801	6318801	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gccccggggcaccacgccctGaagctccactgtgggcaggt	14	16	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:6318801G>A	ENST00000264870.3	-	2	362	c.97C>T	c.(97-99)Cag>Tag	p.Q33*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	33					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCACGCCCTGAAGCTCCACT	0.602																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(97-99)Cag>Tag		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						141	124	129					6																	6318801		2203	4300	6503	SO:0001587	stop_gained	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6318801G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.97C>T	6.37:g.6318801G>A	ENSP00000264870:p.Gln33*						p.Q33*	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			2	362	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	33					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Nonsense_Mutation	SNP	ENST00000264870.3	37	c.97C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708509	0.30322	.	.	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	.	.	.	4.64	2.72	0.32119	.	0.685255	0.14021	N	0.346817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	6.3836	0.21548	0.1029:0.3924:0.5047:0.0	.	.	.	.	X	33;33;33;71	.	ENSP00000264870:Q33X	Q	-	1	0	F13A1	6263800	0.009000	0.17119	0.141000	0.22245	0.004000	0.04260	1.095000	0.30964	1.130000	0.42092	0.643000	0.83706	CAG		0.602	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		7	671	0	0	0	1	0	7	671					A	6318801	G	A	6318801	4	1	108	1	0	0	0	0	0	1	0	0	5358	1299	45	2	2157	2	F13A1	6	6318801	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3031489	6318801	164796266	79	36077											
DSP	1832	broad.mit.edu	37	chr6	7580347	7580347	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctctgaggacaatgcccgGcacaagcagtccctggagga	13	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7580347G>A	ENST00000379802.3	+	23	4265	c.3924G>A	c.(3922-3924)cgG>cgA	p.R1308R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1308	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)		ACAATGCCCGGCACAAGCAGT	0.532																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3922-3924)cgG>cgA		desmoplakin							80	83	82					6																	7580347		2202	4300	6502	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580347G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3924G>A	6.37:g.7580347G>A						DSP_ENST00000418664.2_Intron	p.R1308R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4265	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1308			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.3924G>A	CCDS4501.1																																																																																				0.532	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		5	563	0	0	0	1	0	5	563					A	7580347	G	A	7580347	2	1	108	1	0	0	0	0	0	0	0	1	4797	1190	42	2		2	DSP	6	7580347	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1261546	7580347	163534720	80	36078											
PHACTR1	221692	broad.mit.edu	37	chr6	13206143	13206143	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatgcccgtgggggggcCagacctctcactggtgtcct	14	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:13206143C>A	ENST00000379350.1	+	7	890	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	254					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)			GTGGGGGGGCCAGACCTCTCA	0.602																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(760-762)cCa>cAa		phosphatase and actin regulator 1							54	63	60					6																	13206143		2015	4156	6171	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206143C>A	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.761C>A	6.37:g.13206143C>A	ENSP00000368655:p.Pro254Gln					PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q	p.P254Q			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	890	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	254					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.761C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.984897|3.984897	0.74474|0.74474	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.31510|.	1.49;1.53;1.52|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.598284|.	0.18257|.	N|.	0.146764|.	T|T	0.37489|0.37489	0.1005|0.1005	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61697|.	0.99;0.838;0.899|.	P;B;B|.	0.58780|.	0.845;0.276;0.367|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.15499|.	T|.	0.54|.	-7.9901|-7.9901	17.722|17.722	0.88355|0.88355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;254;254|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	Q|K	254;254;323;109|89	ENSP00000368655:P254Q;ENSP00000329880:P254Q;ENSP00000397669:P109Q|.	ENSP00000329880:P254Q|.	P|Q	+|+	2|1	0|0	PHACTR1|PHACTR1	13314122|13314122	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.973000|0.973000	0.67179|0.67179	3.146000|3.146000	0.50631|0.50631	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	CCA|CAG		0.602	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		83	357	1	0	2.36143e-25	1	2.52599e-25	83	357					A	13206143	C	A	13206143	3	1	108	1	0	0	0	0	1	0	0	0	11851	594	21	3	783	3	PHACTR1	6	13206143	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	5625796	13206143	157908924	81	36079											
GMPR	2766	broad.mit.edu	37	chr6	16279069	16279069	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggtacccccagctgagtgCcgtcattgagtgtgccgact	14	12	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:16279069C>T	ENST00000259727.4	+	6	716	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	201					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				CAGCTGAGTGCCGTCATTGAG	0.592																																						ENST00000259727.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20						c.(601-603)gCc>gTc		guanosine monophosphate reductase							91	81	85					6																	16279069		2203	4300	6503	SO:0001583	missense	2766				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	g.chr6:16279069C>T		CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.602C>T	6.37:g.16279069C>T	ENSP00000259727:p.Ala201Val						p.A201V	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN			6	716	+	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	201					Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	c.602C>T	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883826	0.72410	.	.	ENSG00000137198	ENST00000259727	D	0.90385	-2.66	4.85	4.85	0.62838	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.97554	0.9199	H	0.99815	4.805	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.99605	1.0979	10	0.87932	D	0	-8.3541	16.7414	0.85460	0.0:1.0:0.0:0.0	.	201	P36959	GMPR1_HUMAN	V	201	ENSP00000259727:A201V	ENSP00000259727:A201V	A	+	2	0	GMPR	16387048	1.000000	0.71417	0.792000	0.32020	0.153000	0.21895	7.327000	0.79147	2.237000	0.73441	0.462000	0.41574	GCC		0.592	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2			5	419	0	0	0	1	0	5	419					T	16279069	C	T	16279069	3	4	108	1	0	0	0	0	1	0	0	0	6525	739	26	2	624	2	GMPR	6	16279069	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	3072926	16279069	154835998	82	36080											
GNL1	2794	broad.mit.edu	37	chr6	30514571	30514571	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctgtacacatcattcCgagccgccttggctgtcttg	9	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30514571C>T	ENST00000376621.3	-	11	2454	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	495					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						CACATCATTCCGAGCCGCCTT	0.522																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1483-1485)cGg>cAg		guanine nucleotide binding protein-like 1							97	97	97					6																	30514571		1510	2709	4219	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514571C>T		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.1484G>A	6.37:g.30514571C>T	ENSP00000365806:p.Arg495Gln						p.R495Q	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			11	2454	-			495					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.1484G>A	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554718	0.96514	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.49720	0.77	5.44	5.44	0.79542	.	0.119786	0.56097	D	0.000022	T	0.45458	0.1343	L	0.37630	1.12	0.58432	D	0.999999	P;D;B	0.89917	0.889;1.0;0.052	P;D;B	0.74674	0.617;0.984;0.007	T	0.24512	-1.0158	10	0.09338	T	0.73	-40.1993	18.0176	0.89246	0.0:1.0:0.0:0.0	.	493;292;495	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Q	495;317;292	ENSP00000365806:R495Q	ENSP00000365806:R495Q	R	-	2	0	GNL1	30622550	1.000000	0.71417	0.233000	0.24025	0.996000	0.88848	6.691000	0.74573	2.560000	0.86352	0.561000	0.74099	CGG		0.522	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			7	474	0	0	0	1	0	7	474					T	30514571	C	T	30514571	3	4	108	1	0	0	0	0	1	0	0	0	6564	652	23	1	347	1	GNL1	6	30514571	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	14235502	30514571	140600496	83	36081											
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccctccagtggggccAgcacagccaccaactctgac	9	18	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(397-399)Agc>Ggc		mucin 21, cell surface associated							165	154	158					6																	30954349		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954349A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.397A>G	6.37:g.30954349A>G	ENSP00000365473:p.Ser133Gly					MUC21_ENST00000486149.2_5'UTR	p.S133G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	638	+			133			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.397A>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		7	1332	0	0	0	1	0	7	1332					G	30954349	A	G	30954349	3	3	108	1	0	0	0	0	1	0	0	0	10018	188	7	4	403	4	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	439778	30954349	140160718	84	36082											
BAT2	7916	broad.mit.edu	37	chr6	31604645	31604645	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agccccccagcctggctgtgCggcccccacctgctcctgct	10	21	0	0	rs373808174		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:31604645C>T	ENST00000376033.2	+	28	6304	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2024	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R2024W(1)		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						CCTGGCTGTGCGGCCCCCACC	0.672																																						ENST00000376033.2																			1	Substitution - Missense(1)	p.R2024W(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(6070-6072)Cgg>Tgg		proline-rich coiled-coil 2A		C	TRP/ARG,TRP/ARG	0,3014		0,0,1507	78	103	94		6070,6070	5.5	1	6		94	1,5415		0,1,2707	no	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	101,101	0,1,4214	TT,TC,CC		0.0185,0.0,0.0119	probably-damaging,probably-damaging	2024/2158,2024/2158	31604645	1,8429	1507	2708	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31604645C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6070C>T	6.37:g.31604645C>T	ENSP00000365201:p.Arg2024Trp					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			28	6304	+			2024			3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6070C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610312	0.28712	0.0	1.85E-4	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01998	4.51;4.51	5.48	5.48	0.80851	.	0.127126	0.36519	N	0.002556	T	0.02610	0.0079	N	0.19112	0.55	0.36539	D	0.87119	D	0.76494	0.999	D	0.64877	0.93	T	0.54906	-0.8223	10	0.87932	D	0	-3.4827	11.736	0.51765	0.1756:0.8244:0.0:0.0	.	2024	P48634	PRC2A_HUMAN	W	2016;2005;2024;2024;1249	ENSP00000365175:R2024W;ENSP00000365201:R2024W	ENSP00000365175:R2024W	R	+	1	2	PRRC2A	31712624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.801000	0.27055	2.852000	0.98041	0.643000	0.83706	CGG		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	963	0	0	0	1	0	7	963					T	31604645	C	T	31604645	3	4	108	1	0	0	0	0	1	0	0	0	1320	759	27	1	6176	1	BAT2	6	31604645	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	650296	31604645	139510422	85	36083											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		13	1043						13	1043	---	---	---	---	-	33411203	CAC	-	33411201	7	5	108	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-RB-A7B8-01A-12D-A33T-08	1806556	33411201	137703866	86	36084											
ANKS1A	23294	broad.mit.edu	37	chr6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaactcaaactcagccGcagcttgtccaagtctgact	8	13	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621					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						AAACTCAGCCGCAGCTTGTCC	0.597																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1861-1863)cGc>cAc		ankyrin repeat and sterile alpha motif domain containing 1A							129	146	140					6																	34985688		2203	4300	6503	SO:0001583	missense	23294					cytoplasm	protein binding	g.chr6:34985688G>A	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.1862G>A	6.37:g.34985688G>A	ENSP00000353518:p.Arg621His					ANKS1A_ENST00000535627.1_Intron	p.R621H	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	2000	+			621					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	ENST00000360359.3	37	c.1862G>A	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388694	0.82902	.	.	ENSG00000064999	ENST00000360359	T	0.46819	0.86	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000117	T	0.61640	0.2363	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63314	-0.6665	10	0.72032	D	0.01	-18.3484	19.5669	0.95397	0.0:0.0:1.0:0.0	.	621	Q92625	ANS1A_HUMAN	H	621	ENSP00000353518:R621H	ENSP00000353518:R621H	R	+	2	0	ANKS1A	35093666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.694000	0.91930	0.655000	0.94253	CGC		0.597	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		9	1022	0	0	0	1	0	9	1022					A	34985688	G	A	34985688	3	1	108	1	0	0	0	0	1	0	0	0	688	1087	38	1	1904	1	ANKS1A	6	34985688	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1574487	34985688	136129379	87	36085											
RRAGD	58528	broad.mit.edu	37	chr6	90087442	90087442	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tatcatatcacagcagagctCataggtttgcatatccaccg	7	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90087442C>G	ENST00000369415.4	-	5	1126	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RRAGD_ENST00000359203.3_Missense_Mutation_p.E133Q|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAGCAGAGCTCATAGGTTTGC	0.353																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(850-852)Gag>Cag		Ras-related GTP binding D							140	134	136					6																	90087442		2203	4300	6503	SO:0001583	missense	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90087442C>G	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.850G>C	6.37:g.90087442C>G	ENSP00000358423:p.Glu284Gln					RRAGD_ENST00000359203.2_Missense_Mutation_p.E133Q|RRAGD_ENST00000492783.1_5'UTR	p.E284Q	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	5	1126	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	284						Missense_Mutation	SNP	ENST00000369415.4	37	c.850G>C	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070456	0.93950	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86571	0.1847	9	0.66056	D	0.02	-13.7325	19.2342	0.93851	0.0:1.0:0.0:0.0	.	284	Q9NQL2	RRAGD_HUMAN	Q	284;133	.	ENSP00000352131:E133Q	E	-	1	0	RRAGD	90144161	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.771000	0.85420	2.553000	0.86117	0.462000	0.41574	GAG		0.353	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		62	347	0	0	0	1	0	62	347					G	90087442	C	G	90087442	3	3	108	1	0	0	0	0	1	0	0	0	13725	835	29	5	364	5	RRAGD	6	90087442	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	55101754	90087442	81027625	88	36086											
MDN1	23195	broad.mit.edu	37	chr6	90432786	90432786	+	Frame_Shift_Del	DEL	A	A	-													gcatcaactgacaccagcggAaaaggtcccggaggttgaat							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90432786delA	ENST00000369393.3	-	40	5970	c.5855delT	c.(5854-5856)ttcfs	p.F1952fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1952					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)		ACACCAGCGGAAAAGGTCCCG	0.473																																						ENST00000369393.3																			0				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						c.(5854-5856)tcfs		MDN1, midasin homolog (yeast)							137	151	146					6																	90432786		2203	4300	6503	SO:0001589	frameshift_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90432786delA	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.5855delT	6.37:g.90432786delA	ENSP00000358400:p.Phe1952fs					MDN1_ENST00000428876.1_Frame_Shift_Del_p.F1952fs	p.F1952fs			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	40	5970	-		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)	1952					O15019|Q5T794	Frame_Shift_Del	DEL	ENST00000369393.3	37	c.5855delT	CCDS5024.1																																																																																				0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			9	1189						9	1189	---	---	---	---	-	90432786	A	-	90432786	7	5	108	1	0	1	0	1	0	0	0	0	9456	246	9	0	11187	0	MDN1	6	90432786	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	345344	90432786	80682281	89	36087											
ASCC3	10973	broad.mit.edu	37	chr6	101073182	101073182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgagacaaatatcaaaacAggtttggctggagaatggct	12	5	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:101073182A>G	ENST00000369162.2	-	30	5015	c.4671T>C	c.(4669-4671)ccT>ccC	p.P1557P		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1557	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATCAAAACAGGTTTGGCTG	0.378																																						ENST00000369162.2																			0				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						c.(4669-4671)ccT>ccC		activating signal cointegrator 1 complex subunit 3							84	84	84					6																	101073182		2203	4300	6503	SO:0001819	synonymous_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101073182A>G	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.4671T>C	6.37:g.101073182A>G							p.P1557P	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	30	5015	-		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)	1557			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	c.4671T>C	CCDS5046.1																																																																																				0.378	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		14	353	0	0	0	1	0	14	353					G	101073182	A	G	101073182	2	3	108	1	0	0	0	0	0	0	0	1	1034	175	7	4		4	ASCC3	6	101073182	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	10640396	101073182	70041885	90	36088											
STXBP5	134957	broad.mit.edu	37	chr6	147680320	147680320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcatttctgtgaaacGtttactcgaaagacggactc	8	10	3	2	rs142207202		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:147680320G>A	ENST00000321680.6	+	23	2406	c.2406G>A	c.(2404-2406)acG>acA	p.T802T	STXBP5_ENST00000367481.3_Silent_p.T766T|STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000179882.6_Silent_p.T457T	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	802					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)		TCTGTGAAACGTTTACTCGAA	0.488																																						ENST00000367481.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2296-2298)acG>acA		syntaxin binding protein 5 (tomosyn)		A	,	1,4405	826.1+/-416.6	0,1,2202	113	107	109		2406,2298	-8.6	0	6	dbSNP_134	109	3,8597	819.1+/-406.8	0,3,4297	yes	coding-synonymous,coding-synonymous	STXBP5	NM_001127715.2,NM_139244.4	,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,	802/1152,766/1116	147680320	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147680320G>A	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.2406G>A	6.37:g.147680320G>A						STXBP5_ENST00000179882.6_Silent_p.T457T|STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000321680.6_Silent_p.T802T	p.T766T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	21	2406	+		Ovarian(120;0.0164)	802					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.2298G>A	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102263	0.01828	2.27E-4	3.49E-4	ENSG00000164506	ENST00000367475	.	.	.	5.46	-8.64	0.00874	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38457	-0.9660	4	.	.	.	.	3.0411	0.06139	0.2097:0.1742:0.4436:0.1725	.	.	.	.	I	128	.	.	V	+	1	0	STXBP5	147722013	0.026000	0.19158	0.003000	0.11579	0.052000	0.14988	-0.885000	0.04161	-2.023000	0.00937	-2.952000	0.00084	GTT		0.488	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			37	324	0	0	0	1	0	37	324					A	147680320	G	A	147680320	2	1	108	1	0	0	0	0	0	0	0	1	15408	1132	40	1		1	STXBP5	6	147680320	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	46607138	147680320	23434747	91	36089											
AKAP12	9590	broad.mit.edu	37	chr6	151671678	151671678	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaaagctgatgaggccGgaaaagacaaagagacgggg	15	7	0	5			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:151671678G>A	ENST00000253332.1	+	3	2341	c.2152G>A	c.(2152-2154)Gga>Aga	p.G718R	AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R|AKAP12_ENST00000402676.2_Missense_Mutation_p.G718R|AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	718					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)		TGATGAGGCCGGAAAAGACAA	0.552																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				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						c.(2152-2154)Gga>Aga		A kinase (PRKA) anchor protein 12							98	108	105					6																	151671678		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671678G>A	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.2152G>A	6.37:g.151671678G>A	ENSP00000253332:p.Gly718Arg					AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R|AKAP12_ENST00000253332.1_Missense_Mutation_p.G718R|AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R	p.G718R	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2392	+		Ovarian(120;0.125)	718					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.2152G>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573780	0.45902	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.52	4.64	0.57946	.	0.395578	0.18765	N	0.131771	T	0.12135	0.0295	M	0.70595	2.14	0.23845	N	0.996688	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68621	0.959;0.959;0.91	T	0.15549	-1.0433	10	0.16420	T	0.52	.	13.4509	0.61169	0.076:0.0:0.924:0.0	.	613;620;718	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	R	718;718;620;613	ENSP00000384537:G718R;ENSP00000253332:G718R;ENSP00000346702:G620R;ENSP00000352794:G613R	ENSP00000253332:G718R	G	+	1	0	AKAP12	151713371	0.995000	0.38212	0.005000	0.12908	0.034000	0.12701	5.006000	0.63978	1.305000	0.44909	0.655000	0.94253	GGA		0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			5	739	0	0	0	1	0	5	739					A	151671678	G	A	151671678	3	1	108	1	0	0	0	0	1	0	0	0	448	1117	39	1	2191	1	AKAP12	6	151671678	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3991358	151671678	19443389	92	36090											
TBP	6908	broad.mit.edu	37	chr6	170871046	170871046	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcaacagcaAcagcagcagcagcagcagca	11	14	0	0	rs369312237|rs62430309	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000540980.1_Silent_p.Q54Q|TBP_ENST00000230354.6_Silent_p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(220-222)caA>caG		TATA box binding protein							16	21	19					6																	170871046		1983	3871	5854	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871046A>G	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.222A>G	6.37:g.170871046A>G						TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	p.Q74Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	501	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	74			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.222A>G	CCDS5315.1																																																																																				0.567	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		8	328	0	0	0	1	0	8	328					G	170871046	A	G	170871046	2	3	108	1	0	0	0	0	0	0	0	1	15696	40	2	4		4	TBP	6	170871046	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	19199368	170871046	244021	93	36091											
PSMA2	5683	broad.mit.edu	37	chr7	42957275	42957275	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgttatcctctgtcatttgCccttcaaagctttcctattg	5	11	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:42957275C>T	ENST00000223321.4	-	8	667	c.603G>A	c.(601-603)ggG>ggA	p.G201G	PSMA2_ENST00000442788.1_Silent_p.G201G|PSMA2_ENST00000445517.1_Silent_p.G131G	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						CTGTCATTTGCCCTTCAAAGC	0.378																																						ENST00000442788.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						c.(601-603)ggG>ggA		proteasome (prosome, macropain) subunit, alpha type, 2							106	93	97					7																	42957275		2203	4300	6503	SO:0001819	synonymous_variant	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42957275C>T	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"Proteasome (prosome, macropain) subunits"	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.603G>A	7.37:g.42957275C>T						PSMA2_ENST00000223321.4_Silent_p.G201G|PSMA2_ENST00000445517.1_Silent_p.G131G	p.G201G			P25787	PSA2_HUMAN			8	618	-			201					Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	c.603G>A	CCDS5467.1																																																																																				0.378	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1	NM_002787		5	335	0	0	0	1	0	5	335					T	42957275	C	T	42957275	2	4	108	1	0	0	0	0	0	0	0	1	12714	726	26	2		2	PSMA2	7	42957275	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		42957275	116181388	94	36092											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-													agcttatgtccagcagagctGggggggtgcaacccggggga							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:44120414delG	ENST00000242248.5	-	2	391	c.290delC	c.(289-291)ccafs	p.P97fs	POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	97	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGAGCTGGGGGGGTGCA	0.637								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(289-291)cafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							49	57	54					7																	44120414		2203	4300	6503	SO:0001589	frameshift_variant	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44120414delG	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.290delC	7.37:g.44120414delG	ENSP00000242248:p.Pro97fs					POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs|POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs	p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			2	391	-			97			BRCT.		D3DVK4|Q6P5X8|Q86WQ9	Frame_Shift_Del	DEL	ENST00000242248.5	37	c.290delC	CCDS34625.1																																																																																				0.637	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		7	802						7	802	---	---	---	---	-	44120414	G	-	44120414	7	5	108	1	0	1	0	1	0	0	0	0	12248	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-RB-A7B8-01A-12D-A33T-08	1163139	44120414	115018249	95	36093											
PURB	5814	broad.mit.edu	37	chr7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-													catctcatccgcataccggcAaaaggcgcctccgaacttgc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	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	273					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						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95	104	101					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		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.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		8	1111						8	1111	---	---	---	---	-	44924131	A	-	44924131	7	5	108	1	0	1	0	1	0	0	0	0	12878	130	5	0	125	0	PURB	7	44924131	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	803717	44924131	114214532	96	36094											
TYW1	55253	broad.mit.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	10	1	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"	611243	"radical S-adenosyl methionine and flavodoxin domains 1"	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		6	719	0	0	0	1	0	6	719					C	66479413	T	C	66479413	2	2	108	1	0	0	0	0	0	0	0	1	16872	1567	55	4		4	TYW1	7	66479413	Silent	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	21555282	66479413	92659250	97	36095											
VPS37D	155382	broad.mit.edu	37	chr7	73085559	73085559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcctgcccactggggcCgcccgggggccaccagcagt	15	17	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:73085559C>T	ENST00000324941.4	+	4	743	c.609C>T	c.(607-609)gcC>gcT	p.A203A	VPS37D_ENST00000451519.1_Silent_p.A118A	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)				CCACTGGGGCCGCCCGGGGGC	0.766																																						ENST00000324941.4																			0				central_nervous_system(1)|ovary(1)	2						c.(607-609)gcC>gcT		vacuolar protein sorting 37 homolog D (S. cerevisiae)							4	5	5					7																	73085559		1415	3308	4723	SO:0001819	synonymous_variant	155382				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr7:73085559C>T	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.609C>T	7.37:g.73085559C>T						VPS37D_ENST00000451519.1_Silent_p.A118A	p.A203A	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN			4	743	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	203						Silent	SNP	ENST00000324941.4	37	c.609C>T	CCDS43596.1																																																																																				0.766	VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348064.1	NM_152560		4	66	0	0	0	1	0	4	66					T	73085559	C	T	73085559	2	4	108	1	0	0	0	0	0	0	0	1	17262	639	23	1		1	VPS37D	7	73085559	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6606146	73085559	86053104	98	36096											
HIP1	3092	broad.mit.edu	37	chr7	75168684	75168684	+	Frame_Shift_Del	DEL	T	T	-													caccagcaagctcgtagtgcTttttccgaagctctcccagt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:75168684delT	ENST00000336926.6	-	30	3046	c.3020delA	c.(3019-3021)aagfs	p.K1007fs	HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1007	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTCGTAGTGCTTTTTCCGAAG	0.507			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3019-3021)agfs		huntingtin interacting protein 1							303	294	297					7																	75168684		2203	4300	6503	SO:0001589	frameshift_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75168684delT	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.3020delA	7.37:g.75168684delT	ENSP00000336747:p.Lys1007fs					HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs	p.K1007fs	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			30	3046	-			1007			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Frame_Shift_Del	DEL	ENST00000336926.6	37	c.3020delA	CCDS34669.1																																																																																				0.507	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		8	2150						8	2150	---	---	---	---	-	75168684	T	-	75168684	7	5	108	1	0	1	0	1	0	0	0	0	7144	1609	56	0	101	0	HIP1	7	75168684	Frame_Shift_Del	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	2083125	75168684	83969979	99	36097											
NPTX2	4885	broad.mit.edu	37	chr7	98254285	98254285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaggtgtccctcccactccGcacaaactacctatacggca	6	17	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:98254285G>A	ENST00000265634.3	+	3	860	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	232	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.R232H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCCACTCCGCACAAACTAC	0.597																																						ENST00000265634.3																			1	Substitution - Missense(1)	p.R232H(1)	breast(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(694-696)cGc>cAc		neuronal pentraxin II							229	184	199					7																	98254285		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98254285G>A		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.695G>A	7.37:g.98254285G>A	ENSP00000265634:p.Arg232His						p.R232H	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	860	+	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)		232			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.695G>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322440	0.81580	.	.	ENSG00000106236	ENST00000265634	T	0.16073	2.37	5.57	5.57	0.84162	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68977	-0.5267	10	0.87932	D	0	-16.1906	18.5305	0.90990	0.0:0.0:1.0:0.0	.	232	P47972	NPTX2_HUMAN	H	232	ENSP00000265634:R232H	ENSP00000265634:R232H	R	+	2	0	NPTX2	98092221	1.000000	0.71417	0.984000	0.44739	0.246000	0.25737	9.813000	0.99286	2.619000	0.88677	0.561000	0.74099	CGC		0.597	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		7	1369	0	0	0	1	0	7	1369					A	98254285	G	A	98254285	3	1	108	1	0	0	0	0	1	0	0	0	10645	1087	38	1	705	1	NPTX2	7	98254285	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	23085601	98254285	60884378	100	36098											
EPHB4	2050	broad.mit.edu	37	chr7	100402884	100402884	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcccgaagccactcgCccacagagccaaaagctgag	11	14	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100402884C>T	ENST00000358173.3	-	16	3206	c.2738G>A	c.(2737-2739)gGc>gAc	p.G913D	EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	913	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)					AAGCCACTCGCCCACAGAGCC	0.587																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2737-2739)gGc>gAc		EPH receptor B4							33	32	33					7																	100402884		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100402884C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2738G>A	7.37:g.100402884C>T	ENSP00000350896:p.Gly913Asp					EPHB4_ENST00000360620.3_Intron	p.G913D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			16	3206	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		913			SAM.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2738G>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549037	0.65311	.	.	ENSG00000196411	ENST00000358173	T	0.51325	0.71	5.07	5.07	0.68467	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000085	T	0.53334	0.1790	L	0.33624	1.015	0.47374	D	0.999405	D	0.61080	0.989	P	0.59357	0.856	T	0.48328	-0.9045	10	0.32370	T	0.25	.	15.9362	0.79712	0.0:1.0:0.0:0.0	.	913	P54760	EPHB4_HUMAN	D	913	ENSP00000350896:G913D	ENSP00000350896:G913D	G	-	2	0	EPHB4	100240820	0.999000	0.42202	0.987000	0.45799	0.985000	0.73830	4.063000	0.57499	2.372000	0.80975	0.561000	0.74099	GGC		0.587	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		26	127	0	0	0	1	0	26	127					T	100402884	C	T	100402884	3	4	108	1	0	0	0	0	1	0	0	0	5195	739	26	2	233	2	EPHB4	7	100402884	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	2148599	100402884	58735779	101	36099											
SERPINE1	5054	broad.mit.edu	37	chr7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgtcatagtctcagcccGcatggcccccgaggagatca	11	14	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1105-1107)cGc>cAc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						131	111	118					7																	100780300		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100780300G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1106G>A	7.37:g.100780300G>A	ENSP00000223095:p.Arg369His					SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	p.R369H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			8	1263	+	Lung NSC(181;0.136)|all_lung(186;0.182)		369				Reactive bond.	B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.1106G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432084	0.62844	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.24350	1.86;1.86	5.67	5.67	0.87782	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.85945	2.785	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.70016	0.945;0.967	T	0.60505	-0.7250	10	0.72032	D	0.01	.	15.2607	0.73621	0.0:0.0:1.0:0.0	.	354;369	F8WD53;P05121	.;PAI1_HUMAN	H	369;354;146	ENSP00000223095:R369H;ENSP00000396766:R354H	ENSP00000223095:R369H	R	+	2	0	SERPINE1	100567020	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.941000	0.87700	2.664000	0.90586	0.555000	0.69702	CGC		0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		5	621	0	0	0	1	0	5	621					A	100780300	G	A	100780300	3	1	108	1	0	0	0	0	1	0	0	0	14161	1087	38	1	1132	1	SERPINE1	7	100780300	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	377416	100780300	58358363	102	36100											
RNF133	168433	broad.mit.edu	37	chr7	122338189	122338189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgtcattaggcttatagcGttcaaagcaaattacgcagc	8	8	2	0	rs137950690		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:122338189G>A	ENST00000340112.2	-	1	1021	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	262					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGCTTATAGCGTTCAAAGCAA	0.403																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(784-786)Cgc>Tgc		ring finger protein 133		G	,,,CYS/ARG	0,4406		0,0,2203	159	148	152		,,,784	2.6	0.3	7	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,missense	CADPS2,RNF133	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_139175.1	,,,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,benign	,,,262/377	122338189	2,13004	2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338189G>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.784C>T	7.37:g.122338189G>A	ENSP00000344489:p.Arg262Cys					CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	p.R262C	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	1021	-			262					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.784C>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	0.871	-0.731875	0.03135	0.0	2.33E-4	ENSG00000188050	ENST00000340112	T	0.43294	0.95	5.53	2.62	0.31277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.713262	0.12945	U	0.426283	T	0.26011	0.0634	N	0.21282	0.65	0.09310	N	0.999999	B	0.23891	0.093	B	0.20767	0.031	T	0.20306	-1.0279	10	0.62326	D	0.03	.	4.5179	0.11945	0.091:0.4253:0.36:0.1236	.	262	Q8WVZ7	RN133_HUMAN	C	262	ENSP00000344489:R262C	ENSP00000344489:R262C	R	-	1	0	RNF133	122125425	0.051000	0.20477	0.293000	0.24932	0.004000	0.04260	0.822000	0.27352	0.672000	0.31204	-0.424000	0.05967	CGC		0.403	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		8	722	0	0	0	1	0	8	722					A	122338189	G	A	122338189	3	1	108	1	0	0	0	0	1	0	0	0	13489	1145	40	1	350	1	RNF133	7	122338189	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	21557889	122338189	36800474	103	36101											
TAS2R38	5726	broad.mit.edu	37	chr7	141673468	141673468	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacttcataggacacagtgcGgatgcgagttagagtcaaca	12	8	2	1	rs377342463		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:141673468G>A	ENST00000547270.1	-	1	105	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	8					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GACACAGTGCGGATGCGAGTT	0.443																																						ENST00000547270.1																			0				NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21						c.(22-24)Cgc>Tgc		taste receptor, type 2, member 38		G	CYS/ARG	0,4406		0,0,2203	114	112	113		22	-9.6	0	7		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAS2R38	NM_176817.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	8/334	141673468	1,13005	2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673468G>A	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.22C>T	7.37:g.141673468G>A	ENSP00000448219:p.Arg8Cys						p.R8C	NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN			1	105	-	Melanoma(164;0.0171)		8					A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.22C>T	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	3.866	-0.028883	0.07589	0.0	1.16E-4	ENSG00000257138	ENST00000547270	T	0.00816	5.66	5.1	-9.6	0.00553	.	4.375660	0.01228	N	0.008298	T	0.00412	0.0013	N	0.03608	-0.345	0.09310	N	1	B	0.22276	0.067	B	0.04013	0.001	T	0.51220	-0.8733	10	0.15066	T	0.55	.	1.5776	0.02627	0.1848:0.4484:0.1652:0.2016	.	8	P59533	T2R38_HUMAN	C	8	ENSP00000448219:R8C	ENSP00000331291:R8C	R	-	1	0	TAS2R38	141319937	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.787000	0.04618	-1.782000	0.01275	-0.294000	0.09567	CGC		0.443	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		59	518	0	0	0	1	0	59	518					A	141673468	G	A	141673468	3	1	108	1	0	0	0	0	1	0	0	0	15627	1116	39	1	983	1	TAS2R38	7	141673468	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	19335279	141673468	17465195	104	36102											
EPHX2	2053	broad.mit.edu	37	chr8	27373915	27373915	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagagtcatctgctcctcccGgtgggtgtgctgtcttgcag	14	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:27373915G>A	ENST00000521400.1	+	8	1340	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	EPHX2_ENST00000517536.1_Splice_Site_p.E121K|EPHX2_ENST00000380476.3_Splice_Site_p.E251K|EPHX2_ENST00000518379.1_Splice_Site_p.E272K|EPHX2_ENST00000521780.1_Splice_Site_p.E238K	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	304	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)			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)		TGCTCCTCCCGGTGGGTGTGC	0.567											OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000521400.1																			0				cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.e8+1		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						290	250	264					8																	27373915		2203	4300	6503	SO:0001630	splice_region_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27373915G>A	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.910+1G>A	8.37:g.27373915G>A			OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793	EPHX2_ENST00000518379.1_Splice_Site_p.E272_splice|EPHX2_ENST00000517536.1_Splice_Site_p.E121_splice|EPHX2_ENST00000380476.3_Splice_Site_p.E251_splice|EPHX2_ENST00000521780.1_Splice_Site_p.E238_splice	p.E304_splice	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	8	1340	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	304			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Splice_Site	SNP	ENST00000521400.1	37	c.910_splice	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299688	0.40694	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.67	5.67	0.87782	Alpha/beta hydrolase fold-1 (1);	0.288097	0.42821	D	0.000645	T	0.65749	0.2721	M	0.80183	2.485	0.80722	D	1	B;B;B	0.25521	0.026;0.109;0.128	B;B;B	0.20955	0.031;0.028;0.032	T	0.63761	-0.6564	10	0.39692	T	0.17	-5.1595	17.2762	0.87116	0.0:0.0:1.0:0.0	.	272;304;304	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	K	304;121;238;251;308;272	ENSP00000430269:E304K;ENSP00000428875:E121K;ENSP00000430302:E238K;ENSP00000369843:E251K;ENSP00000427956:E272K	ENSP00000369843:E251K	E	+	1	0	EPHX2	27429832	1.000000	0.71417	0.736000	0.30914	0.054000	0.15201	5.558000	0.67319	2.677000	0.91161	0.561000	0.74099	GAA		0.567	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4		Missense_Mutation	6	791	0	0	0	1	0	6	791					A	27373915	G	A	27373915	5	1	108	1	0	0	0	0	0	0	1	0	5198	1130	39	1	940	1	EPHX2	8	27373915	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		27373915	118990107	105	36103											
RGS20	8601	broad.mit.edu	37	chr8	54791937	54791937	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctccggcgaccccctccCgaggctccccggaggcgcct	11	21	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:54791937C>T	ENST00000297313.3	+	2	377	c.285C>T	c.(283-285)ccC>ccT	p.P95P	RGS20_ENST00000522225.1_5'Flank|RGS20_ENST00000276500.4_5'Flank|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	95					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)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACCCCCTCCCGAGGCTCCCC	0.726																																						ENST00000297313.3																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(283-285)ccC>ccT		regulator of G-protein signaling 20							37	48	44					8																	54791937		2203	4296	6499	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791937C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.285C>T	8.37:g.54791937C>T						RGS20_ENST00000344277.6_Intron	p.P95P	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	377	+			95					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.285C>T	CCDS6155.1																																																																																				0.726	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			8	605	0	0	0	1	0	8	605					T	54791937	C	T	54791937	2	4	108	1	0	0	0	0	0	0	0	1	13353	639	23	1		1	RGS20	8	54791937	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	27418022	54791937	91572085	106	36104											
DNAJC5B	85479	broad.mit.edu	37	chr8	66988979	66988979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaatcaacaacgcccaCgcaatacttaccgacatttc	4	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:66988979C>T	ENST00000276570.5	+	4	491	c.204C>T	c.(202-204)caC>caT	p.H68H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	68	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)		p.H68H(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAACGCCCACGCAATACTTA	0.428																																						ENST00000276570.5																			1	Substitution - coding silent(1)	p.H68H(1)	large_intestine(1)	endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20						c.(202-204)caC>caT		DnaJ (Hsp40) homolog, subfamily C, member 5 beta							169	151	157					8																	66988979		2203	4300	6503	SO:0001819	synonymous_variant	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66988979C>T	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"Heat shock proteins / DNAJ (HSP40)"	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.204C>T	8.37:g.66988979C>T						DNAJC5B_ENST00000519330.1_3'UTR	p.H68H	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		4	491	+		Lung NSC(129;0.114)|all_lung(136;0.188)	68			J.		Q969Y8	Silent	SNP	ENST00000276570.5	37	c.204C>T	CCDS6183.1																																																																																				0.428	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		7	710	0	0	0	1	0	7	710					T	66988979	C	T	66988979	2	4	108	1	0	0	0	0	0	0	0	1	4667	535	19	1		1	DNAJC5B	8	66988979	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	12197042	66988979	79375043	107	36105											
WWP1	11059	broad.mit.edu	37	chr8	87423766	87423766	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttattaattttcccttctcaGttaatggagaatcatcctca	4	9	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:87423766G>T	ENST00000517970.1	+	9	1031		c.e9-1		WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000341922.2_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						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						TCCCTTCTCAGTTAATGGAGA	0.368																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.e9-1		WW domain containing E3 ubiquitin protein ligase 1							84	82	82					8																	87423766		2203	4300	6503	SO:0001630	splice_region_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87423766G>T	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.725-1G>T	8.37:g.87423766G>T						WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site		NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			9	1031	+								O00307|Q5YLC1|Q96BP4	Splice_Site	SNP	ENST00000517970.1	37		CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930378	0.52866	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1564	0.86792	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWP1	87492882	1.000000	0.71417	0.992000	0.48379	0.603000	0.37013	4.394000	0.59671	2.492000	0.84095	0.650000	0.86243	.		0.368	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	Intron	8	361	1	0	0.0381472	1	0.0383974	8	361					T	87423766	G	T	87423766	5	4	108	1	0	0	0	0	0	0	1	0	17469	1043	36	3	750	3	WWP1	8	87423766	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	20434787	87423766	58940256	108	36106											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					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)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	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.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	1207						7	1207	---	---	---	---	-	105440214	T	-	105440214	7	5	108	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	18016448	105440214	40923808	109	36107											
TRHR	7201	broad.mit.edu	37	chr8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcatggtcttggtggccGcaggcctccccaacataaca	9	14	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:110099973G>A	ENST00000518632.1	+	2	583	c.232G>A	c.(232-234)Gca>Aca	p.A78T	TRHR_ENST00000311762.2_Missense_Mutation_p.A78T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTTGGTGGCCGCAGGCCTCCC	0.512																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(232-234)Gca>Aca		thyrotropin-releasing hormone receptor							138	127	131					8																	110099973		2203	4300	6503	SO:0001583	missense	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110099973G>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.232G>A	8.37:g.110099973G>A	ENSP00000430711:p.Ala78Thr					TRHR_ENST00000311762.2_Missense_Mutation_p.A78T	p.A78T			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	583	+			78					Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	c.232G>A	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571768	0.86542	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.71698	-0.59;-0.59	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.78974	-0.1992	10	0.23302	T	0.38	-37.8444	19.1516	0.93491	0.0:0.0:1.0:0.0	.	78	P34981	TRFR_HUMAN	T	78	ENSP00000430711:A78T;ENSP00000309818:A78T	ENSP00000309818:A78T	A	+	1	0	TRHR	110169149	1.000000	0.71417	0.809000	0.32408	0.898000	0.52572	9.860000	0.99555	2.773000	0.95371	0.655000	0.94253	GCA		0.512	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			5	479	0	0	0	1	0	5	479					A	110099973	G	A	110099973	3	1	108	1	0	0	0	0	1	0	0	0	16533	1087	38	1	234	1	TRHR	8	110099973	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4659759	110099973	36264049	110	36108											
HAS2	3037	broad.mit.edu	37	chr8	122626809	122626809	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatgttccaaattttacccCggtagaagagctggattact	9	8	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:122626809C>T	ENST00000303924.4	-	4	1736	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	400					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AATTTTACCCCGGTAGAAGAG	0.413																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1198-1200)cGg>cAg		hyaluronan synthase 2							123	119	120					8																	122626809		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626809C>T	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1199G>A	8.37:g.122626809C>T	ENSP00000306991:p.Arg400Gln						p.R400Q	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1736	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		400					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1199G>A	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837061	0.32421	.	.	ENSG00000170961	ENST00000303924	T	0.59083	0.29	6.04	6.04	0.98038	.	0.096875	0.64402	N	0.000001	T	0.48114	0.1482	L	0.37630	1.12	0.50171	D	0.999857	B	0.19583	0.037	B	0.19666	0.026	T	0.48186	-0.9057	10	0.02654	T	1	-10.3761	20.5792	0.99380	0.0:1.0:0.0:0.0	.	400	Q92819	HAS2_HUMAN	Q	400	ENSP00000306991:R400Q	ENSP00000306991:R400Q	R	-	2	0	HAS2	122695990	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.848000	0.55903	2.873000	0.98535	0.561000	0.74099	CGG		0.413	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		130	686	0	0	0	1	0	130	686					T	122626809	C	T	122626809	3	4	108	1	0	0	0	0	1	0	0	0	6992	652	23	1	463	1	HAS2	8	122626809	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	12526836	122626809	23737213	111	36109											
SMARCA2	6595	broad.mit.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	10	14	0	0	rs376509101|rs62639301	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(667-669)caG>caA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							10	13	12					9																	2039779		2187	4260	6447	SO:0001819	synonymous_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039779G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.669G>A	9.37:g.2039779G>A						SMARCA2_ENST00000382194.1_Silent_p.Q223Q|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR	p.Q223Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	878	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	223			Poly-Gln.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Silent	SNP	ENST00000382203.1	37	c.669G>A	CCDS34977.1																																																																																				0.642	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	130	0	0	0	1	0	4	130					A	2039779	G	A	2039779	2	1	108	1	0	0	0	0	0	0	0	1	14819	962	34	2		2	SMARCA2	9	2039779	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		2039779	139173652	112	36110											
NOL6	65083	broad.mit.edu	37	chr9	33464069	33464069	+	Frame_Shift_Del	DEL	T	T	-													catcctgtgtccacacagagTttttgcggtcttggggggta							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:33464069delT	ENST00000379471.2	-	22	2957	c.2870delA	c.(2869-2871)aacfs	p.N957fs	NOL6_ENST00000455041.2_Frame_Shift_Del_p.N905fs|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	957					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)		CCACACAGAGTTTTTGCGGTC	0.572																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2869-2871)acfs		nucleolar protein 6 (RNA-associated)							155	137	143					9																	33464069		2203	4300	6503	SO:0001589	frameshift_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464069delT	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2870delA	9.37:g.33464069delT	ENSP00000368784:p.Asn957fs					NOL6_ENST00000455041.2_Frame_Shift_Del_p.N905fs|NOL6_ENST00000464829.1_Intron	p.N957fs			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2957	-			957					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Del	DEL	ENST00000379471.2	37	c.2870delA																																																																																					0.572	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		8	913						8	913	---	---	---	---	-	33464069	T	-	33464069	7	5	108	1	0	1	0	1	0	0	0	0	10567	1725	60	0	590	0	NOL6	9	33464069	Frame_Shift_Del	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	31424290	33464069	107749362	113	36111											
MELK	9833	broad.mit.edu	37	chr9	36665452	36665452	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaacaaagaaaatgtatatActcctaagtctgctgtaaag	7	6	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:36665452A>G	ENST00000298048.2	+	14	1466	c.1282A>G	c.(1282-1284)Act>Gct	p.T428A	MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A|MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000543751.1_Missense_Mutation_p.T396A|MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	428	Autoinhibitory region.			T -> A (in Ref. 3; BAH11482). {ECO:0000305}.	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)			AAATGTATATACTCCTAAGTC	0.368																																					Ovarian(82;980 1317 7225 14391 18624)	ENST00000543751.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1186-1188)Act>Gct		maternal embryonic leucine zipper kinase							82	84	83					9																	36665452		2203	4299	6502	SO:0001583	missense	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36665452A>G	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.1282A>G	9.37:g.36665452A>G	ENSP00000298048:p.Thr428Ala					MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000541717.1_Missense_Mutation_p.T387A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000298048.2_Missense_Mutation_p.T428A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A	p.T396A	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		13	1331	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	428					A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	c.1186A>G	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722290	0.30503	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.71222	-0.37;0.61;0.41;0.94;0.32;-0.55;-0.37;-0.37	5.65	5.65	0.86999	.	0.373797	0.33110	N	0.005277	T	0.64305	0.2586	L	0.54323	1.7	0.30079	N	0.809352	B;B;B;B;B;B;B	0.22276	0.001;0.015;0.002;0.001;0.014;0.067;0.001	B;B;B;B;B;B;B	0.20767	0.002;0.007;0.011;0.006;0.021;0.031;0.002	T	0.58470	-0.7631	10	0.15499	T	0.54	-1.347	13.825	0.63346	1.0:0.0:0.0:0.0	.	348;357;380;387;357;396;428	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	A	428;234;297;357;380;357;387;396	ENSP00000298048:T428A;ENSP00000438226:T234A;ENSP00000439184:T297A;ENSP00000445452:T357A;ENSP00000439792:T380A;ENSP00000443550:T357A;ENSP00000437804:T387A;ENSP00000441596:T396A	ENSP00000298048:T428A	T	+	1	0	MELK	36655452	0.976000	0.34144	0.997000	0.53966	0.749000	0.42624	3.706000	0.54830	2.146000	0.66826	0.528000	0.53228	ACT		0.368	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		68	332	0	0	0	1	0	68	332					G	36665452	A	G	36665452	3	3	108	1	0	0	0	0	1	0	0	0	9511	391	14	4	1332	4	MELK	9	36665452	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	3201383	36665452	104547979	114	36112											
ZNF658	26149	broad.mit.edu	37	chr9	40772411	40772411	+	Frame_Shift_Del	DEL	A	A	-													ctgtgtgaattctttgatgtActctgagggttgaattatgg							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:40772411delA	ENST00000602553.1	-	5	3158	c.2864delT	c.(2863-2865)gtafs	p.V955fs	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Frame_Shift_Del_p.V955fs			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	955					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTTTGATGTACTCTGAGGGT	0.423																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2863-2865)gafs		zinc finger protein 658							35	38	37					9																	40772411		1502	3165	4667	SO:0001589	frameshift_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772411delA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2864delT	9.37:g.40772411delA	ENSP00000473484:p.Val955fs					ZNF658_ENST00000377626.3_Frame_Shift_Del_p.V955fs|ZNF658_ENST00000441795.1_Intron	p.V955fs			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	3158	-			955					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Frame_Shift_Del	DEL	ENST00000602553.1	37	c.2864delT	CCDS35023.1																																																																																				0.423	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		155	713						155	713	---	---	---	---	-	40772411	A	-	40772411	7	5	108	1	0	1	0	1	0	0	0	0	18122	391	14	0	319	0	ZNF658	9	40772411	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08	4106959	40772411	100441020	115	36113											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		6	643	0	0	0	1	0	6	643					T	70871889	C	T	70871889	2	4	108	1	0	0	0	0	0	0	0	1	2721	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	30099478	70871889	70341542	116	36114											
ANXA1	301	broad.mit.edu	37	chr9	75775738	75775738	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggccttggaactgatgaagAtactctaattgagattttgg	12	5	1	4	rs111698970		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:75775738A>T	ENST00000376911.1	+	5	1286	c.404A>T	c.(403-405)gAt>gTt	p.D135V	ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V			P04083	ANXA1_HUMAN	annexin A1	135					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	ACTGATGAAGATACTCTAATT	0.358																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.(403-405)gAt>gTt		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						155	164	161					9																	75775738		2203	4299	6502	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775738A>T	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"Annexins", "Endogenous ligands"	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.404A>T	9.37:g.75775738A>T	ENSP00000366109:p.Asp135Val					ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V	p.D135V			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	5	1286	+		all_epithelial(88;2.54e-11)	135						Missense_Mutation	SNP	ENST00000376911.1	37	c.404A>T	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544955	0.86022	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.03689	3.84;3.84;3.84	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.087076	0.85682	D	0.000000	T	0.17323	0.0416	M	0.72353	2.195	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	T	0.00150	-1.1986	10	0.44086	T	0.13	.	16.2565	0.82519	1.0:0.0:0.0:0.0	.	135	P04083	ANXA1_HUMAN	V	135;146;135	ENSP00000257497:D135V;ENSP00000412489:D146V;ENSP00000366109:D135V	ENSP00000257497:D135V	D	+	2	0	ANXA1	74965558	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.466000	0.90387	2.235000	0.73313	0.533000	0.62120	GAT		0.358	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		135	624	0	0	0	1	0	135	624					T	75775738	A	T	75775738	3	4	108	1	0	0	0	0	1	0	0	0	714	333	12	5	422	5	ANXA1	9	75775738	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	4903849	75775738	65437693	117	36115											
ABCA1	19	broad.mit.edu	37	chr9	107620844	107620844	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgttggaacgaagtactcGctctgctgcagccagtttct	10	11	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:107620844G>A	ENST00000374736.3	-	7	1073	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	227					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)	CGAAGTACTCGCTCTGCTGCA	0.468																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(679-681)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						163	160	161					9																	107620844		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107620844G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.679C>T	9.37:g.107620844G>A	ENSP00000363868:p.Arg227*					ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	7	1073	-			227					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.679C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915688	0.92178	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	.	.	.	6.17	3.26	0.37387	.	1.116260	0.06418	N	0.721847	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.0132	0.30365	0.0726:0.0:0.5413:0.3861	.	.	.	.	X	227	.	ENSP00000363868:R227X	R	-	1	2	ABCA1	106660665	0.015000	0.18098	0.018000	0.16275	0.002000	0.02628	0.895000	0.28363	0.924000	0.37069	0.655000	0.94253	CGA		0.468	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		90	437	0	0	0	1	0	90	437					A	107620844	G	A	107620844	4	1	108	1	0	0	0	0	0	1	0	0	28	1095	38	1	6282	1	ABCA1	9	107620844	Nonsense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	31845106	107620844	33592587	118	36116											
PALM2	114299	broad.mit.edu	37	chr9	112694261	112694261	+	Intron	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cctgccaatcctctgttcacGaacagcagaaccatcacctg	6	16	3	1	rs369150990		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:112694261G>A	ENST00000374531.2	+	6	474				AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|PALM2_ENST00000448454.2_Missense_Mutation_p.R152Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						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						CTCTGTTCACGAACAGCAGAA	0.537																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(454-456)cGa>cAa		paralemmin 2		G	,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	136	131	133		,449,449,449	-5.9	0.7	9		133	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	PALM2,PALM2-AKAP2	NM_001037293.2,NM_147150.2,NM_053016.5,NM_007203.4	,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,benign,benign	,150/1091,150/412,150/1104	112694261	1,13005	2203	4300	6503	SO:0001627	intron_variant	114299							g.chr9:112694261G>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6899G>A	9.37:g.112694261G>A						PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q	p.R152Q							7	455	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.455G>A	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347395	0.61183	0.0	1.16E-4	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T	0.31510	2.32;2.32;1.49;2.29;2.32;2.29;2.29;2.29	6.17	-5.92	0.02261	.	1.309160	0.05762	N	0.605000	T	0.24890	0.0604	N	0.25647	0.755	0.26117	N	0.98061	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.0	T	0.36986	-0.9725	10	0.87932	D	0	4.8271	18.4642	0.90749	0.1085:0.7357:0.1558:0.0	.	150;150;152	Q9Y2D5-6;Q9Y2D5-4;D3YTA4	.;.;.	Q	152;150;136;150;150;150;150;150	ENSP00000400206:R152Q;ENSP00000323805:R150Q;ENSP00000419747:R136Q;ENSP00000363654:R150Q;ENSP00000397839:R150Q;ENSP00000305861:R150Q;ENSP00000451476:R150Q;ENSP00000421522:R150Q	ENSP00000305861:R150Q	R	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111734082	0.586000	0.26782	0.720000	0.30636	0.943000	0.58893	-0.368000	0.07543	-0.736000	0.04831	-0.844000	0.03045	CGA		0.537	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		127	560	0	0	0	1	0	127	560					A	112694261	G	A	112694261	1	1	108	0	1	0	0	0	0	0	0	0	11451	1058	37	1		1	PALM2	9	112694261	Intron	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	5073417	112694261	28519170	119	36117											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		9	298						9	298	---	---	---	---	-	46969403	CAG	-	46969401	7	5	108	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-RB-A7B8-01A-12D-A33T-08		46969401	88565346	120	36118											
CTNNA3	29119	broad.mit.edu	37	chr10	67680252	67680252	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacatcacaactgggtgccGgggcccagcaggactctgga	13	14	2	0	rs199852825		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:67680252G>A	ENST00000433211.2	-	18	2698	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTGGGTGCCGGGGCCCAGCA	0.478																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(2524-2526)Cgg>Tgg		catenin (cadherin-associated protein), alpha 3		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87	89	88		2524,2524	2.9	1	10		88	0,8600		0,0,4300	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	842/896,842/896	67680252	1,13005	2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67680252G>A	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.2524C>T	10.37:g.67680252G>A	ENSP00000389714:p.Arg842Trp					CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W|CTNNA3_ENST00000373735.1_Missense_Mutation_p.R181W	p.R842W	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			18	2698	-			842						Missense_Mutation	SNP	ENST00000433211.2	37	c.2524C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709574	0.68730	2.27E-4	0.0	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.37235	1.21;1.21;1.21	5.92	2.87	0.33458	.	0.000000	0.52532	D	0.000080	T	0.43875	0.1267	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.44513	-0.9323	10	0.72032	D	0.01	-12.5285	13.3618	0.60661	0.0:0.0:0.423:0.577	.	842	Q9UI47	CTNA3_HUMAN	W	842;842;181	ENSP00000389714:R842W;ENSP00000362849:R842W;ENSP00000362840:R181W	ENSP00000362840:R181W	R	-	1	2	CTNNA3	67350258	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	2.574000	0.46016	0.779000	0.33543	-0.169000	0.13324	CGG		0.478	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		8	636	0	0	0	1	0	8	636					A	67680252	G	A	67680252	3	1	108	1	0	0	0	0	1	0	0	0	4025	1115	39	1	167	1	CTNNA3	10	67680252	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	20710851	67680252	67854495	121	36119											
EIF4EBP2	1979	broad.mit.edu	37	chr10	72179709	72179709	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagtttctgttggatcGtcgcaattctcccatggctc	9	11	2	1	rs201220454		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:72179709G>C	ENST00000373218.4	+	2	208	c.185G>C	c.(184-186)cGt>cCt	p.R62P		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	62					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						CTGTTGGATCGTCGCAATTCT	0.433																																						ENST00000373218.4																			0				large_intestine(1)	1						c.(184-186)cGt>cCt		eukaryotic translation initiation factor 4E binding protein 2							99	100	99					10																	72179709		2203	4300	6503	SO:0001583	missense	1979				negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding	g.chr10:72179709G>C		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.185G>C	10.37:g.72179709G>C	ENSP00000362314:p.Arg62Pro						p.R62P	NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN			2	208	+			62						Missense_Mutation	SNP	ENST00000373218.4	37	c.185G>C	CCDS7303.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628140	0.87560	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	4.66	0.58398	.	0.047741	0.85682	D	0.000000	T	0.68274	0.2983	L	0.56769	1.78	0.58432	D	0.999999	D	0.61697	0.99	P	0.59357	0.856	T	0.71258	-0.4646	9	0.59425	D	0.04	-6.3829	13.7427	0.62857	0.0756:0.0:0.9244:0.0	.	62	Q13542	4EBP2_HUMAN	P	62	.	ENSP00000362314:R62P	R	+	2	0	EIF4EBP2	71849715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	1.498000	0.48600	0.650000	0.86243	CGT		0.433	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048513.1	NM_004096		63	398	0	0	0	1	0	63	398					C	72179709	G	C	72179709	3	2	108	1	0	0	0	0	1	0	0	0	5051	1145	40	5	191	5	EIF4EBP2	10	72179709	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4499457	72179709	63355038	122	36120											
RRP12	23223	broad.mit.edu	37	chr10	99126559	99126559	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcttcctcctccacgGcagcctggctcagggctcgg	10	18	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:99126559G>A	ENST00000370992.4	-	27	3266	c.3155C>T	c.(3154-3156)gCc>gTc	p.A1052V	RRP12_ENST00000536831.1_Missense_Mutation_p.A770V|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.A952V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1052						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ctcctccACGGCAGCCTGGCT	0.642																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3154-3156)gCc>gTc		ribosomal RNA processing 12 homolog (S. cerevisiae)							108	123	118					10																	99126559		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99126559G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3155C>T	10.37:g.99126559G>A	ENSP00000360031:p.Ala1052Val					RRP12_ENST00000315563.6_Missense_Mutation_p.A952V|RRP12_ENST00000536831.1_Missense_Mutation_p.A770V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V	p.A1052V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	27	3266	-		Colorectal(252;0.162)	1052					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3155C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395000	0.25205	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.34859	1.34;1.35;1.35;1.35	4.7	3.79	0.43588	.	0.184388	0.46442	D	0.000284	T	0.28863	0.0716	L	0.31926	0.97	0.39444	D	0.967292	B;B;B;B	0.22146	0.016;0.065;0.027;0.009	B;B;B;B	0.21917	0.004;0.037;0.037;0.01	T	0.06698	-1.0812	10	0.33141	T	0.24	-1.8106	14.2053	0.65730	0.0:0.0:0.8493:0.1507	.	991;952;770;1052	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	V	1052;952;991;770	ENSP00000360031:A1052V;ENSP00000324315:A952V;ENSP00000414863:A991V;ENSP00000446184:A770V	ENSP00000324315:A952V	A	-	2	0	RRP12	99116549	0.912000	0.30974	0.455000	0.27031	0.045000	0.14185	3.330000	0.52068	0.955000	0.37878	-0.310000	0.09108	GCC		0.642	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		7	1358	0	0	0	1	0	7	1358					A	99126559	G	A	99126559	3	1	108	1	0	0	0	0	1	0	0	0	13736	1203	42	2	770	2	RRP12	10	99126559	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	26946850	99126559	36408188	123	36121											
OR51A2	401667	broad.mit.edu	37	chr11	4976163	4976163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaaagcggtggacaaCggccaggttgatgatgggca	16	10	0	2	rs75797492	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:4976163C>T	ENST00000380371.1	-	1	780	c.781G>A	c.(781-783)Gtt>Att	p.V261I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, 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)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		CGGTGGACAACGGCCAGGTTG	0.468													.|||	3	0.000599042	0.0023	0.0	5008	,	,		12557	0.0		0.0	False		,,,				2504	0.0					ENST00000380371.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(781-783)Gtt>Att		olfactory receptor, family 51, subfamily A, member 2			ILE/VAL	31,4207		5,21,2093	95	74	81		781	-2.5	0	11	dbSNP_131	81	1,7863		0,1,3931	no	missense	OR51A2	NM_001004748.1	29	5,22,6024	TT,TC,CC		0.0127,0.7315,0.2644	benign	261/314	4976163	32,12070	2119	3932	6051	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976163C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"GPCR / Class A : Olfactory receptors"	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.781G>A	11.37:g.4976163C>T	ENSP00000369729:p.Val261Ile					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.V261I	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	780	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	261						Missense_Mutation	SNP	ENST00000380371.1	37	c.781G>A	CCDS31368.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	-	1.405	-0.577068	0.03854	0.007315	1.27E-4	ENSG00000205496	ENST00000380371	T	0.34667	1.35	3.26	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.09113	0.0225	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.23762	-1.0179	9	0.25106	T	0.35	.	4.7352	0.12984	0.1471:0.3962:0.0:0.4567	.	261	Q8NGJ7	O51A2_HUMAN	I	261	ENSP00000369729:V261I	ENSP00000369729:V261I	V	-	1	0	OR51A2	4932739	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.751000	0.00055	-0.397000	0.07691	-0.367000	0.07326	GTT		0.468	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		91	272	0	0	0	1	0	91	272					T	4976163	C	T	4976163	3	4	108	1	0	0	0	0	1	0	0	0	11128	536	19	1	162	1	OR51A2	11	4976163	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		4976163	130030353	124	36122											
CNGA4	1262	broad.mit.edu	37	chr11	6261426	6261426	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctacgtgcggctgggcccGcacacacccaccctgaggct	12	17	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:6261426G>A	ENST00000379936.2	+	4	517	c.402G>A	c.(400-402)ccG>ccA	p.P134P	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGGGCCCGCACACACCCA	0.617																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(400-402)ccG>ccA		cyclic nucleotide gated channel alpha 4							108	111	110					11																	6261426		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261426G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.402G>A	11.37:g.6261426G>A						CNGA4_ENST00000533426.1_Intron	p.P134P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	517	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	134						Silent	SNP	ENST00000379936.2	37	c.402G>A	CCDS31408.1																																																																																				0.617	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		8	1046	0	0	0	1	0	8	1046					A	6261426	G	A	6261426	2	1	108	1	0	0	0	0	0	0	0	1	3608	1074	38	1		1	CNGA4	11	6261426	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1285263	6261426	128745090	125	36123											
ST5	6764	broad.mit.edu	37	chr11	8751522	8751522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgggacttgcggtgaccacGcatgtccttcttgggtctcc	12	13	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:8751522G>A	ENST00000534127.1	-	6	1700	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R439C|ST5_ENST00000357665.1_Missense_Mutation_p.R439C|ST5_ENST00000526757.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	439	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGGTGACCACGCATGTCCTTC	0.572																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1315-1317)Cgt>Tgt		suppression of tumorigenicity 5							284	277	279					11																	8751522		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751522G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1315C>T	11.37:g.8751522G>A	ENSP00000433528:p.Arg439Cys					ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R439C|ST5_ENST00000357665.1_Missense_Mutation_p.R439C	p.R439C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1700	-			439			Interaction with ABL1.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1315C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290665	0.80914	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.06687	3.27;3.27;3.27	6.11	6.11	0.99139	.	0.102941	0.39407	N	0.001363	T	0.18718	0.0449	L	0.34521	1.04	0.58432	D	0.999997	D	0.76494	0.999	P	0.59357	0.856	T	0.00039	-1.2241	10	0.72032	D	0.01	-7.866	18.9147	0.92501	0.0:0.0:1.0:0.0	.	439	P78524	ST5_HUMAN	C	439	ENSP00000433528:R439C;ENSP00000319678:R439C;ENSP00000350294:R439C	ENSP00000319678:R439C	R	-	1	0	ST5	8708098	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	4.038000	0.57318	2.906000	0.99361	0.655000	0.94253	CGT		0.572	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		10	1939	0	0	0	1	0	10	1939					A	8751522	G	A	8751522	3	1	108	1	0	0	0	0	1	0	0	0	15272	1087	38	1	2170	1	ST5	11	8751522	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2490096	8751522	126254994	126	36124											
PHF21A	51317	broad.mit.edu	37	chr11	46001356	46001358	+	In_Frame_Del	DEL	GTG	GTG	-													gctgcagctgactgctgggcGtggtggtggtggtactgctg					rs372037631		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:46001356_46001358delGTG	ENST00000418153.2	-	6	512_514	c.313_315delCAC	c.(313-315)cacdel	p.H105del	PHF21A_ENST00000257821.4_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	105	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						actgctgggcgtggtggtggtgg	0.488																																						ENST00000257821.4																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						c.(313-315)del		PHD finger protein 21A																																				SO:0001651	inframe_deletion	51317				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding	g.chr11:46001356_46001358delGTG	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.313_315delCAC	11.37:g.46001365_46001367delGTG	ENSP00000398824:p.His105del					PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del	p.H105del	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN			6	936_938	-			105			Gln-rich.		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	In_Frame_Del	DEL	ENST00000418153.2	37	c.313_315delCAC	CCDS44578.1																																																																																				0.488	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392583.1	NM_016621		8	323						8	323	---	---	---	---	-	46001358	GTG	-	46001356	7	5	108	1	0	1	0	1	0	0	0	0	11875	1136	40	0	1809	0	PHF21A	11	46001356	In_Frame_Del	DEL	GTG	TCGA-RB-A7B8-01A-12D-A33T-08	37249834	46001356	89005160	127	36125											
NUP160	23279	broad.mit.edu	37	chr11	47861533	47861533	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tattccaggtactgctggaaTtaactgatagttgcaaggat	10	6	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:47861533T>C	ENST00000378460.2	-	4	656	c.610A>G	c.(610-612)Att>Gtt	p.I204V	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000530326.1_Missense_Mutation_p.I90V|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	204					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACTGCTGGAATTAACTGATAG	0.458																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(610-612)Att>Gtt		nucleoporin 160kDa							114	108	110					11																	47861533		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47861533T>C	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.610A>G	11.37:g.47861533T>C	ENSP00000367721:p.Ile204Val					NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V|NUP160_ENST00000530326.1_Missense_Mutation_p.I90V	p.I204V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			4	656	-			204					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.610A>G	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236417	0.79800	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.44881	0.91;0.91;0.91	5.44	5.44	0.79542	.	0.052986	0.64402	D	0.000001	T	0.54029	0.1833	M	0.65975	2.015	0.80722	D	1	P	0.45126	0.851	P	0.51055	0.657	T	0.53563	-0.8421	10	0.39692	T	0.17	.	15.4885	0.75587	0.0:0.0:0.0:1.0	.	204	Q12769	NU160_HUMAN	V	204;90;90	ENSP00000367721:I204V;ENSP00000433590:I90V;ENSP00000432367:I90V	ENSP00000367721:I204V	I	-	1	0	NUP160	47818109	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	5.079000	0.64431	2.063000	0.61619	0.533000	0.62120	ATT		0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		81	441	0	0	0	1	0	81	441					C	47861533	T	C	47861533	3	2	108	1	0	0	0	0	1	0	0	0	10799	1493	52	4	3832	4	NUP160	11	47861533	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	1860177	47861533	87144983	128	36126											
OR8H2	390151	broad.mit.edu	37	chr11	55872750	55872750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcagttactcaactgtcGtcacacctaaaaccttagcg	5	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:55872750G>A	ENST00000313503.1	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	78						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)					CTCAACTGTCGTCACACCTAA	0.438										HNSCC(53;0.14)																												ENST00000313503.1																			0				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						c.(232-234)Gtc>Atc		olfactory receptor, family 8, subfamily H, member 2							248	248	248					11																	55872750		2201	4293	6494	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872750G>A	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.232G>A	11.37:g.55872750G>A	ENSP00000323982:p.Val78Ile	HNSCC(53;0.14)					p.V78I	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	232	+	Esophageal squamous(21;0.00693)		78					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.232G>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.053	-1.245473	0.01481	.	.	ENSG00000181767	ENST00000313503	T	0.01406	4.93	3.58	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.117869	0.38959	N	0.001502	T	0.00608	0.0020	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49123	-0.8972	10	0.02654	T	1	.	8.3388	0.32230	0.8257:0.0:0.1743:0.0	.	78	Q8N162	OR8H2_HUMAN	I	78	ENSP00000323982:V78I	ENSP00000323982:V78I	V	+	1	0	OR8H2	55629326	0.004000	0.15560	0.989000	0.46669	0.646000	0.38490	2.210000	0.42816	0.080000	0.16959	-0.573000	0.04149	GTC		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		15	1522	0	0	0	1	0	15	1522					A	55872750	G	A	55872750	3	1	108	1	0	0	0	0	1	0	0	0	11280	1145	40	1	234	1	OR8H2	11	55872750	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8011217	55872750	79133766	129	36127											
OR5T3	390154	broad.mit.edu	37	chr11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ataaatccatttcatttatcGgatgtgcaacacagatgctt	6	8	1	1	rs543165988		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126						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)					TTCATTTATCGGATGTGCAAC	0.363													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22195	0.0		0.0	False		,,,				2504	0.0					ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(376-378)Gga>Aga		olfactory receptor, family 5, subfamily T, member 3							172	171	171					11																	56020051		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020051G>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>A	11.37:g.56020051G>A	ENSP00000305403:p.Gly126Arg						p.G126R	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	376	+	Esophageal squamous(21;0.00448)		126					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.376G>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.452159	0.26074	.	.	ENSG00000172489	ENST00000303059	T	0.09817	2.94	4.55	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.542212	0.15279	U	0.270784	T	0.24812	0.0602	M	0.69358	2.11	0.09310	N	1	D	0.62365	0.991	P	0.58660	0.843	T	0.04216	-1.0968	10	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	126	Q8NGG3	OR5T3_HUMAN	R	126	ENSP00000305403:G126R	ENSP00000305403:G126R	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		5	777	0	0	0	1	0	5	777					A	56020051	G	A	56020051	3	1	108	1	0	0	0	0	1	0	0	0	11225	1117	39	1	378	1	OR5T3	11	56020051	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	147301	56020051	78986465	130	36128											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077417	57077417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcccagtcctgctcatcgGcatcctggctgctgtaccta	8	16	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:57077417G>A	ENST00000532437.1	-	5	3079	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	923	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)	p.A923V(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)				CTGCTCATCGGCATCCTGGCT	0.572																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.A923V(1)	kidney(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						c.(2767-2769)gCc>gTc		tankyrase 1 binding protein 1, 182kDa							186	181	182					11																	57077417		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077417G>A	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.2768C>T	11.37:g.57077417G>A	ENSP00000437271:p.Ala923Val					TNKS1BP1_ENST00000530920.1_5'UTR|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V	p.A923V			Q9C0C2	TB182_HUMAN			5	3079	-		all_epithelial(135;0.21)	923			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.2768C>T	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209903	0.39003	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34472	1.36;1.36	5.47	1.3	0.21679	.	0.803739	0.10698	N	0.644437	T	0.42223	0.1193	L	0.59436	1.845	0.09310	N	1	D	0.54964	0.969	P	0.55011	0.766	T	0.22977	-1.0201	10	0.46703	T	0.11	-0.6792	3.1082	0.06348	0.1593:0.1452:0.5597:0.1357	.	923	Q9C0C2	TB182_HUMAN	V	923	ENSP00000350990:A923V;ENSP00000437271:A923V	ENSP00000350990:A923V	A	-	2	0	TNKS1BP1	56833993	0.000000	0.05858	0.002000	0.10522	0.117000	0.20001	0.116000	0.15561	0.245000	0.21373	0.462000	0.41574	GCC		0.572	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		8	962	0	0	0	1	0	8	962					A	57077417	G	A	57077417	3	1	108	1	0	0	0	0	1	0	0	0	16372	1203	42	2	2445	2	TNKS1BP1	11	57077417	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1057366	57077417	77929099	131	36129											
FADS2	9415	broad.mit.edu	37	chr11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-													caagaccaaccacgtgttctTcctcctcctcctggcccaca							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	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)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	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.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del|FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		11	957						11	957	---	---	---	---	-	61607887	TCC	-	61607885	7	5	108	1	0	1	0	1	0	0	0	0	5387	1783	62	0	408	0	FADS2	11	61607885	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	4530468	61607885	73398631	132	36130											
RARRES3	5920	broad.mit.edu	37	chr11	63312120	63312120	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccggggctggctcctccaGtgtcttctcagtcctgagca	11	16	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63312120G>A	ENST00000255688.3	+	3	194	c.146G>A	c.(145-147)aGt>aAt	p.S49N	RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N|RARRES3_ENST00000439013.2_Missense_Mutation_p.S49N|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	49					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GGCTCCTCCAGTGTCTTCTCA	0.567																																						ENST00000439013.2																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(145-147)aGt>aAt		retinoic acid receptor responder (tazarotene induced) 3							130	138	135					11																	63312120		1950	4144	6094	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312120G>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.146G>A	11.37:g.63312120G>A	ENSP00000255688:p.Ser49Asn					RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000255688.3_Missense_Mutation_p.S49N|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N	p.S49N			Q9UL19	TIG3_HUMAN			3	199	+			49					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.146G>A	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385443	0.42308	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.24908	1.83;1.83;1.83	4.29	-3.33	0.04958	.	0.677062	0.13847	N	0.358591	T	0.26159	0.0638	M	0.87547	2.89	0.09310	N	1	B	0.25206	0.12	B	0.26094	0.066	T	0.40572	-0.9556	10	0.62326	D	0.03	.	1.3662	0.02202	0.301:0.276:0.2986:0.1245	.	49	Q9UL19	TIG3_HUMAN	N	49	ENSP00000402943:S49N;ENSP00000255688:S49N;ENSP00000346431:S49N	ENSP00000255688:S49N	S	+	2	0	RARRES3	63068696	0.977000	0.34250	0.000000	0.03702	0.008000	0.06430	1.927000	0.40094	-0.643000	0.05473	0.655000	0.94253	AGT		0.567	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			27	1091	0	0	0	1	0	27	1091					A	63312120	G	A	63312120	3	1	108	1	0	0	0	0	1	0	0	0	13107	1029	36	2	156	2	RARRES3	11	63312120	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1704235	63312120	71694396	133	36131											
NAA40	79829	broad.mit.edu	37	chr11	63721522	63721522	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcagagaagcgttgcaGtaaggagctgggtgtgggcc	16	7	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63721522G>A	ENST00000377793.4	+	7	673		c.e7+1		NAA40_ENST00000542163.1_Splice_Site|NAA40_ENST00000539656.1_Splice_Site|NAA40_ENST00000456907.2_Splice_Site	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit						lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGCGTTGCAGTAAGGAGCTG	0.512																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.e7+1		N(alpha)-acetyltransferase 40, NatD catalytic subunit							135	140	138					11																	63721522		2201	4297	6498	SO:0001630	splice_region_variant	79829						N-acetyltransferase activity	g.chr11:63721522G>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"N(alpha)-acetyltransferase subunits"	25845	protein-coding gene	gene with protein product			"N-acetyltransferase 11", "N-acetyltransferase 11 (GCN5-related, putative)", "N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.572+1G>A	11.37:g.63721522G>A						NAA40_ENST00000542163.1_Splice_Site|NAA40_ENST00000456907.2_Splice_Site|NAA40_ENST00000539656.1_Splice_Site		NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN			7	673	+								B4DR03|B4DU10|Q5HYL5|Q9H897	Splice_Site	SNP	ENST00000377793.4	37		CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596843	0.86953	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6823	0.88247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAA40	63478098	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.436000	0.97532	2.474000	0.83562	0.462000	0.41574	.		0.512	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771	Intron	5	598	0	0	0	1	0	5	598					A	63721522	G	A	63721522	5	1	108	1	0	0	0	0	0	0	1	0	10166	1043	36	2	599	2	NAA40	11	63721522	Splice_Site	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	409402	63721522	71284994	134	36132											
CCDC88B	283234	broad.mit.edu	37	chr11	64120219	64120219	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgtccatcccaggcaCgagcagctgcaggcccagcg	11	18	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120						membrane (GO:0016020)		p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677																																						ENST00000356786.5																			1	Substitution - coding silent(1)	p.H1120H(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3358-3360)caC>caT		coiled-coil domain containing 88B							27	31	30					11																	64120219		2201	4286	6487	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120219C>T	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.3360C>T	11.37:g.64120219C>T						CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H	p.H1120H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			20	3404	+			1120					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.3360C>T	CCDS8072.2																																																																																				0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		36	232	0	0	0	1	0	36	232					T	64120219	C	T	64120219	2	4	108	1	0	0	0	0	0	0	0	1	2871	535	19	1		1	CCDC88B	11	64120219	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	398697	64120219	70886297	135	36133											
SCYL1	57410	broad.mit.edu	37	chr11	65299135	65299135	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccactgaccgggccatgcGcatccgcctcctgcagcagg	11	17	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:65299135G>A	ENST00000270176.5	+	8	1174	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	SCYL1_ENST00000524944.1_Missense_Mutation_p.R366H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	366					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						CGGGCCATGCGCATCCGCCTC	0.617																																						ENST00000524944.1																			0				ovary(1)|skin(1)	2						c.(1096-1098)cGc>cAc		SCY1-like 1 (S. cerevisiae)							67	68	68					11																	65299135		2145	4260	6405	SO:0001583	missense	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65299135G>A	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.1097G>A	11.37:g.65299135G>A	ENSP00000270176:p.Arg366His					SCYL1_ENST00000527630.1_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000270176.5_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H	p.R366H			Q96KG9	NTKL_HUMAN			8	1130	+			366					A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	ENST00000270176.5	37	c.1097G>A	CCDS41672.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925405	0.92319	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.179297	0.45361	D	0.000375	T	0.74473	0.3721	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.998	D;D;D;D;P	0.75484	0.949;0.986;0.981;0.928;0.85	T	0.80327	-0.1429	10	0.87932	D	0	-8.8898	16.593	0.84772	0.0:0.0:1.0:0.0	.	366;366;366;366;366	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	H	366;366;366;366;366;366;366;366;223	ENSP00000270176:R366H;ENSP00000431635:R366H;ENSP00000408192:R366H;ENSP00000437254:R366H;ENSP00000433450:R366H;ENSP00000279270:R366H;ENSP00000432175:R366H;ENSP00000436993:R223H	ENSP00000270176:R366H	R	+	2	0	SCYL1	65055711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.515000	0.90548	2.609000	0.88269	0.650000	0.86243	CGC		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		5	230	0	0	0	1	0	5	230					A	65299135	G	A	65299135	3	1	108	1	0	0	0	0	1	0	0	0	13997	1087	38	1	1127	1	SCYL1	11	65299135	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1178916	65299135	69707381	136	36134											
MYEOV	26579	broad.mit.edu	37	chr11	69063478	69063478	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgaggaggtgcatgggcgGcatgggctctccatggaaat	16	9	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:69063478G>A	ENST00000308946.3	+	3	1011	c.561G>A	c.(559-561)cgG>cgA	p.R187R	MYEOV_ENST00000535407.1_Silent_p.R129R|MYEOV_ENST00000441339.2_Silent_p.R187R	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	187										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)		TGCATGGGCGGCATGGGCTCT	0.627																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(385-387)cgG>cgA		myeloma overexpressed							151	142	145					11																	69063478		2200	4294	6494	SO:0001819	synonymous_variant	26579							g.chr11:69063478G>A	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.561G>A	11.37:g.69063478G>A						MYEOV_ENST00000308946.3_Silent_p.R187R|MYEOV_ENST00000441339.2_Silent_p.R187R	p.R129R			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	1030	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		187					Q9UGN6|Q9UGN7	Silent	SNP	ENST00000308946.3	37	c.387G>A	CCDS8190.1																																																																																				0.627	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			6	814	0	0	0	1	0	6	814					A	69063478	G	A	69063478	2	1	108	1	0	0	0	0	0	0	0	1	10066	1190	42	2		2	MYEOV	11	69063478	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3764343	69063478	65943038	137	36135											
ZC3H12C	85463	broad.mit.edu	37	chr11	110036119	110036119	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acaaagaaagccttattcccGccaggaaggcctgggaagct	11	11	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:110036119G>A	ENST00000278590.3	+	6	2360	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R739H|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	770							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)		CCTTATTCCCGCCAGGAAGGC	0.552																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2215-2217)cGc>cAc		zinc finger CCCH-type containing 12C							99	103	102					11																	110036119		1973	4173	6146	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110036119G>A		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.2309G>A	11.37:g.110036119G>A	ENSP00000278590:p.Arg770His					ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R771H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R770H	p.R739H			Q9C0D7	ZC12C_HUMAN		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)	5	3097	+		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)	770					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2216G>A	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459973	0.26248	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.31769	1.48;1.48;1.48	5.92	5.92	0.95590	.	0.526358	0.22068	N	0.065080	T	0.26231	0.0640	L	0.29908	0.895	0.36328	D	0.858707	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16778	-1.0391	10	0.14656	T	0.56	-14.1476	20.3206	0.98668	0.0:0.0:1.0:0.0	.	771;770;770	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	770;771;739	ENSP00000278590:R770H;ENSP00000431821:R771H;ENSP00000413094:R739H	ENSP00000278590:R770H	R	+	2	0	ZC3H12C	109541329	0.997000	0.39634	0.996000	0.52242	0.081000	0.17604	2.472000	0.45136	2.809000	0.96659	0.655000	0.94253	CGC		0.552	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		10	482	0	0	0	1	0	10	482					A	110036119	G	A	110036119	3	1	108	1	0	0	0	0	1	0	0	0	17616	1087	38	1	2331	1	ZC3H12C	11	110036119	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	40972641	110036119	24970397	138	36136											
PHLDB1	23187	broad.mit.edu	37	chr11	118514602	118514604	+	In_Frame_Del	DEL	TCC	TCC	-													tcccctcctcctctggctctTcctcctcctcctcccagctc					rs533107188|rs563191533		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:118514602_118514604delTCC	ENST00000361417.2	+	15	3373_3375	c.2962_2964delTCC	c.(2962-2964)tccdel	p.S992del	PHLDB1_ENST00000527898.1_In_Frame_Del_p.S28del|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_In_Frame_Del_p.S945del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.S135del	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	992										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)		ctctggctcttcctcctcctcct	0.65																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(2962-2964)del		pleckstrin homology-like domain, family B, member 1																																				SO:0001651	inframe_deletion	23187							g.chr11:118514602_118514604delTCC		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.2962_2964delTCC	11.37:g.118514611_118514613delTCC	ENSP00000354498:p.Ser992del					PHLDB1_ENST00000527898.1_In_Frame_Del_p.S28del|PHLDB1_ENST00000524713.1_In_Frame_Del_p.S135del|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_In_Frame_Del_p.S945del	p.S992del	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	15	3373_3375	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	992					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	In_Frame_Del	DEL	ENST00000361417.2	37	c.2962_2964delTCC	CCDS8401.1																																																																																				0.65	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		7	345						7	345	---	---	---	---	-	118514604	TCC	-	118514602	7	5	108	1	0	1	0	1	0	0	0	0	11893	1783	62	0	3012	0	PHLDB1	11	118514602	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	8478483	118514602	16491914	139	36137											
SCN3B	55800	broad.mit.edu	37	chr11	123516310	123516310	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catacaaggaaatctttaccGccctcgggcctgtagaacca	8	13	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:123516310G>A	ENST00000392770.2	-	2	1006	c.204C>T	c.(202-204)ggC>ggT	p.G68G	SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	68	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCTTTACCGCCCTCGGGCC	0.592																																						ENST00000392770.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26						c.(202-204)ggC>ggT		sodium channel, voltage-gated, type III, beta subunit							132	138	136					11																	123516310		2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516310G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.204C>T	11.37:g.123516310G>A						SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G	p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	2	1006	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	68			Ig-like C2-type.		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.204C>T	CCDS8442.1																																																																																				0.592	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		107	524	0	0	0	1	0	107	524					A	123516310	G	A	123516310	2	1	108	1	0	0	0	0	0	0	0	1	13969	1074	38	1		1	SCN3B	11	123516310	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	5001708	123516310	11490206	140	36138											
SLC6A13	6540	broad.mit.edu	37	chr12	346453	346453	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagagatcttcaagacccgCcgcctggggagagaagggtt	14	10	3	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:346453C>T	ENST00000343164.4	-	6	619	c.567G>A	c.(565-567)cgG>cgA	p.R189R	SLC6A13_ENST00000445055.2_Silent_p.R97R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	189					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCAAGACCCGCCGCCTGGGGA	0.622																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(565-567)cgG>cgA		solute carrier family 6 (neurotransmitter transporter), member 13							47	53	51					12																	346453		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:346453C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.567G>A	12.37:g.346453C>T						SLC6A13_ENST00000445055.2_Silent_p.R97R	p.R189R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		6	619	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		189					B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.567G>A	CCDS8502.1																																																																																				0.622	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		5	432	0	0	0	1	0	5	432					T	346453	C	T	346453	2	4	108	1	0	0	0	0	0	0	0	1	14726	726	26	2		2	SLC6A13	12	346453	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		346453	133505442	141	36139											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	7	24	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41	51	47					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro					PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	p.S31P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		21	492	0	0	0	1	0	21	492					C	3649787	T	C	3649787	3	2	108	1	0	0	0	0	1	0	0	0	12589	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	3303334	3649787	130202108	142	36140											
ZNF384	171017	broad.mit.edu	37	chr12	6782390	6782390	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagcagccttaccgggtgtgCtgctgaaggtgggagagctg	18	8	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:6782390C>T	ENST00000396801.3	-	7	1110	c.903G>A	c.(901-903)caG>caA	p.Q301Q	ZNF384_ENST00000319770.3_Silent_p.Q285Q|ZNF384_ENST00000396795.1_Silent_p.Q301Q|ZNF384_ENST00000361959.3_Silent_p.Q301Q|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396799.2_Silent_p.Q301Q|ZNF384_ENST00000355772.4_Silent_p.Q246Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	301					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ACCGGGTGTGCTGCTGAAGGT	0.542			T	"EWSR1, TAF15 "	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"EWSR1, TAF15 "		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(901-903)caG>caA		zinc finger protein 384							71	66	68					12																	6782390		2203	4300	6503	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6782390C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.903G>A	12.37:g.6782390C>T						ZNF384_ENST00000319770.3_Silent_p.Q285Q|ZNF384_ENST00000396801.3_Silent_p.Q301Q|ZNF384_ENST00000396799.2_Silent_p.Q301Q|ZNF384_ENST00000361959.3_Silent_p.Q301Q|ZNF384_ENST00000355772.4_Silent_p.Q246Q	p.Q301Q			Q8TF68	ZN384_HUMAN			6	1400	-			301					O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	37	c.903G>A	CCDS44817.1																																																																																				0.542	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			4	159	0	0	0	1	0	4	159					T	6782390	C	T	6782390	2	4	108	1	0	0	0	0	0	0	0	1	17928	796	28	2		2	ZNF384	12	6782390	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	3132603	6782390	127069505	143	36141											
PTPN6	5777	broad.mit.edu	37	chr12	7060853	7060853	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggtagcttcctggctcgGcccagtcgcaagaaccaggg	13	14	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7060853G>A	ENST00000318974.9	+	2	334	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PTPN6_ENST00000399448.1_Silent_p.R32R|PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000456013.1_Silent_p.R30R	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	30	SH2 1. {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						TCCTGGCTCGGCCCAGTCGCA	0.662																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(88-90)cgG>cgA		protein tyrosine phosphatase, non-receptor type 6							58	65	63					12																	7060853		1957	4160	6117	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7060853G>A		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.90G>A	12.37:g.7060853G>A						PTPN6_ENST00000318974.9_Silent_p.R30R|PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000399448.1_Silent_p.R32R	p.R30R	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			2	332	+			30			SH2 1.		A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.90G>A	CCDS44820.1																																																																																				0.662	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		6	598	0	0	0	1	0	6	598					A	7060853	G	A	7060853	2	1	108	1	0	0	0	0	0	0	0	1	12842	1190	42	2		2	PTPN6	12	7060853	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	278463	7060853	126791042	144	36142											
CD163L1	283316	broad.mit.edu	37	chr12	7559219	7559219	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaaagattcattaccGgagcaggagacaccatcaag	9	9	2	3	rs143012538	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7559219G>A	ENST00000313599.3	-	5	1053	c.996C>T	c.(994-996)tcC>tcT	p.S332S	CD163L1_ENST00000416109.2_Silent_p.S342S|CD163L1_ENST00000396630.1_Silent_p.S332S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	332	SRCR 3. {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						ATTCATTACCGGAGCAGGAGA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(994-996)tcC>tcT		CD163 molecule-like 1		G		0,4406		0,0,2203	178	144	156		996	-3.5	0	12	dbSNP_134	156	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CD163L1	NM_174941.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		332/1454	7559219	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559219G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.996C>T	12.37:g.7559219G>A						CD163L1_ENST00000396630.1_Silent_p.S332S|CD163L1_ENST00000416109.2_Silent_p.S342S	p.S332S			Q9NR16	C163B_HUMAN			5	1053	-			332			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.996C>T	CCDS8577.1																																																																																				0.473	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		6	436	0	0	0	1	0	6	436					A	7559219	G	A	7559219	2	1	108	1	0	0	0	0	0	0	0	1	2977	1103	39	1		1	CD163L1	12	7559219	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	498366	7559219	126292676	145	36143											
MFAP5	8076	broad.mit.edu	37	chr12	8804269	8804269	+	Frame_Shift_Del	DEL	T	T	-													caatcatacctgcagtggtaTttttttcactgagggaggct					rs139330366	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:8804269delT	ENST00000359478.2	-	7	423	c.236delA	c.(235-237)aatfs	p.N79fs	MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000538107.1_5'Flank	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	79					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TGCAGTGGTATTTTTTTCACT	0.423																																						ENST00000359478.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13						c.(235-237)atfs		microfibrillar associated protein 5							145	135	139					12																	8804269		2203	4300	6503	SO:0001589	frameshift_variant	8076					microfibril	extracellular matrix structural constituent	g.chr12:8804269delT	AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.236delA	12.37:g.8804269delT	ENSP00000352455:p.Asn79fs					MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000535336.1_Intron	p.N79fs	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN			7	423	-	Lung SC(5;0.184)		79					B0AZL6|D3DUV1|Q7Z490	Frame_Shift_Del	DEL	ENST00000359478.2	37	c.236delA	CCDS8595.1																																																																																				0.423	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2	NM_003480		7	696						7	696	---	---	---	---	-	8804269	T	-	8804269	7	5	108	1	0	1	0	1	0	0	0	0	9559	1493	52	0	301	0	MFAP5	12	8804269	Frame_Shift_Del	DEL	T	TCGA-RB-A7B8-01A-12D-A33T-08	1245050	8804269	125047626	146	36144											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	99	0	0	0	1	0	11	99					G	25398285	C	G	25398285	3	3	108	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	16594016	25398285	108453610	147	36145											
DENND5B	160518	broad.mit.edu	37	chr12	31577541	31577541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgatcaaggtgttctcCtccaggccggtgatgtttgc	13	11	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:31577541C>T	ENST00000389082.5	-	10	2583	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	DENND5B_ENST00000306833.6_Silent_p.E808E|DENND5B_ENST00000536562.1_Silent_p.E808E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	773	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTGTTCTCCTCCAGGCCGG	0.517																																						ENST00000389082.5																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2317-2319)gaG>gaA		DENN/MADD domain containing 5B							214	208	210					12																	31577541		2085	4238	6323	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31577541C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2319G>A	12.37:g.31577541C>T						DENND5B_ENST00000536562.1_Silent_p.E808E|DENND5B_ENST00000306833.6_Silent_p.E808E	p.E773E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN			10	2583	-			773			RUN 1.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.2319G>A	CCDS44857.1																																																																																				0.517	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		30	604	0	0	0	1	0	30	604					T	31577541	C	T	31577541	2	4	108	1	0	0	0	0	0	0	0	1	4453	680	24	2		2	DENND5B	12	31577541	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	6179256	31577541	102274354	148	36146											
CNTN1	1272	broad.mit.edu	37	chr12	41422975	41422975	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgttgtggaggttcgcgcGcacagtgatggaggagatgg	18	6	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000348761.2_Silent_p.A967A|CNTN1_ENST00000347616.1_Silent_p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	978	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTTCGCGCGCACAGTGATG	0.458																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(2932-2934)gcG>gcA		contactin 1							231	215	221					12																	41422975		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41422975G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2934G>A	12.37:g.41422975G>A						CNTN1_ENST00000348761.2_Silent_p.A967A|CNTN1_ENST00000347616.1_Silent_p.A978A	p.A978A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			23	3051	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	978			Fibronectin type-III 4.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.2934G>A	CCDS8737.1																																																																																				0.458	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		6	839	0	0	0	1	0	6	839					A	41422975	G	A	41422975	2	1	108	1	0	0	0	0	0	0	0	1	3649	1074	38	1		1	CNTN1	12	41422975	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	9845434	41422975	92428920	149	36147											
ADAMTS20	80070	broad.mit.edu	37	chr12	43860592	43860592	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggattatcatcatgttgaacAccaagtctaaaaataaaaat	5	6	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:43860592A>G	ENST00000389420.3	-	9	1229	c.1230T>C	c.(1228-1230)ggT>ggC	p.G410G	ADAMTS20_ENST00000553158.1_Silent_p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	410	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGTTGAACACCAAGTCTAA	0.294																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1228-1230)ggT>ggC		ADAM metallopeptidase with thrombospondin type 1 motif, 20							80	83	82					12																	43860592		2202	4299	6501	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43860592A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1230T>C	12.37:g.43860592A>G						ADAMTS20_ENST00000553158.1_Silent_p.G410G	p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	9	1229	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	410			Peptidase M12B.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1230T>C	CCDS31778.2																																																																																				0.294	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		22	201	0	0	0	1	0	22	201					G	43860592	A	G	43860592	2	3	108	1	0	0	0	0	0	0	0	1	266	146	6	4		4	ADAMTS20	12	43860592	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	2437617	43860592	89991303	150	36148											
KRT6A	3853	broad.mit.edu	37	chr12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cgcctccaacagagctgaggCcacccccaatggctctgcca	9	18	1	2	rs200198490		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	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)		AGAGCTGAGGCCACCCCCAAT	0.577																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1612-1614)gGc>gCc		keratin 6A							75	84	81					12																	52881586		2203	4298	6501	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52881586C>G	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.1613G>C	12.37:g.52881586C>G	ENSP00000369317:p.Gly538Ala						p.G538A	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1681	-			538			Tail.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1613G>C	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	12.31	1.900672	0.33535	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	4.58	3.67	0.42095	.	0.000000	0.46758	D	0.000262	D	0.89536	0.6743	M	0.85542	2.76	0.30471	N	0.773342	B	0.29378	0.243	B	0.28991	0.097	T	0.82906	-0.0225	10	0.13108	T	0.6	.	12.0413	0.53454	0.0:0.8481:0.0:0.1519	.	538	P02538	K2C6A_HUMAN	A	538;494	ENSP00000369317:G538A	ENSP00000369317:G538A	G	-	2	0	KRT6A	51167853	0.213000	0.23551	0.995000	0.50966	0.991000	0.79684	3.180000	0.50895	1.206000	0.43276	0.650000	0.86243	GGC		0.577	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		5	569	0	0	0	1	0	5	569					G	52881586	C	G	52881586	3	3	108	1	0	0	0	0	1	0	0	0	8510	739	26	5	85	5	KRT6A	12	52881586	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	9020994	52881586	80970309	151	36149											
COQ10A	93058	broad.mit.edu	37	chr12	56662938	56662938	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctctggtggtatccagccGtaagggtcatttgaaagccc	12	10	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:56662938G>A	ENST00000308197.5	+	3	638	c.377G>A	c.(376-378)cGt>cAt	p.R126H	COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H|COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	126						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTATCCAGCCGTAAGGGTCAT	0.512																																						ENST00000308197.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						c.(376-378)cGt>cAt		coenzyme Q10 homolog A (S. cerevisiae)							132	130	131					12																	56662938		1958	4125	6083	SO:0001583	missense	93058					mitochondrial inner membrane		g.chr12:56662938G>A	AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.377G>A	12.37:g.56662938G>A	ENSP00000312587:p.Arg126His					COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H	p.R126H	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN			3	638	+			126					Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Missense_Mutation	SNP	ENST00000308197.5	37	c.377G>A	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436623	0.96168	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.26810	1.71;1.73;1.73	5.33	5.33	0.75918	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.54965	1.715	0.80722	D	1	P;P;P	0.47350	0.87;0.894;0.894	B;B;B	0.41571	0.245;0.258;0.36	T	0.06643	-1.0815	10	0.54805	T	0.06	.	18.1779	0.89767	0.0:0.0:1.0:0.0	.	109;131;126	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	H	126;94;109	ENSP00000312587:R126H;ENSP00000407843:R94H;ENSP00000446723:R109H	ENSP00000312587:R126H	R	+	2	0	COQ10A	54949205	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.651000	0.83577	2.665000	0.90641	0.561000	0.74099	CGT		0.512	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408332.1	NM_144576		7	624	0	0	0	1	0	7	624					A	56662938	G	A	56662938	3	1	108	1	0	0	0	0	1	0	0	0	3752	1145	40	1	429	1	COQ10A	12	56662938	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3781352	56662938	77188957	152	36150											
ATP2A2	488	broad.mit.edu	37	chr12	110778541	110778541	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctccgtgaagctgtgCcggcaagcaggcatccgggt	14	14	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:110778541C>T	ENST00000539276.2	+	14	1948	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	ATP2A2_ENST00000395494.2_Silent_p.C586C|ATP2A2_ENST00000308664.6_Silent_p.C613C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	613					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						TGAAGCTGTGCCGGCAAGCAG	0.572																																						ENST00000395494.2																			0				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	GRCh37	CM014166	ATP2A2	M		c.(1756-1758)tgC>tgT		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							97	95	96					12																	110778541		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778541C>T		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.1839C>T	12.37:g.110778541C>T						ATP2A2_ENST00000539276.2_Silent_p.C613C|ATP2A2_ENST00000308664.6_Silent_p.C613C	p.C586C			P16615	AT2A2_HUMAN			13	2321	+			613			Interacts with HAX1.		A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.1758C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231362	0.22626	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.93	-0.83	0.10792	.	.	.	.	.	T	0.63954	0.2555	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61178	-0.7115	4	.	.	.	.	12.8976	0.58108	0.0:0.5245:0.0:0.4755	.	.	.	.	S	504	.	.	P	+	1	0	ATP2A2	109262924	0.928000	0.31464	0.994000	0.49952	0.973000	0.67179	0.080000	0.14802	-0.056000	0.13221	-0.126000	0.14955	CCG		0.572	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		5	553	0	0	0	1	0	5	553					T	110778541	C	T	110778541	2	4	108	1	0	0	0	0	0	0	0	1	1138	747	26	2		2	ATP2A2	12	110778541	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	54115603	110778541	23073354	153	36151											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	12	8	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340	303	316					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		9	897	0	0	0	1	0	9	897					A	123780522	G	A	123780522	3	1	108	1	0	0	0	0	1	0	0	0	13912	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	13001981	123780522	10071373	154	36152											
TMEM132D	121256	broad.mit.edu	37	chr12	129558549	129558549	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagttcctggtggggtactcGtcgtctgaggagacggcggt	18	8	1	2	rs74724941	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:129558549G>A	ENST00000422113.2	-	9	3497	c.3171C>T	c.(3169-3171)gaC>gaT	p.D1057D	TMEM132D_ENST00000389441.4_Silent_p.D595D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1057					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D1057E(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)		TGGGGTACTCGTCGTCTGAGG	0.512													G|||	13	0.00259585	0.0	0.0	5008	,	,		20710	0.0129		0.0	False		,,,				2504	0.0					ENST00000422113.2																			1	Substitution - Missense(1)	p.D1057E(1)	ovary(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						c.(3169-3171)gaC>gaT		transmembrane protein 132D		G		3,4403	6.2+/-15.9	0,3,2200	155	152	153		3171	-5.4	0	12	dbSNP_131	153	0,8600		0,0,4300	no	coding-synonymous	TMEM132D	NM_133448.2		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		1057/1100	129558549	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558549G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3171C>T	12.37:g.129558549G>A						TMEM132D_ENST00000389441.4_Silent_p.D595D	p.D1057D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3497	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1057					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.3171C>T	CCDS9266.1																																																																																				0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		57	505	0	0	0	1	0	57	505					A	129558549	G	A	129558549	2	1	108	1	0	0	0	0	0	0	0	1	16099	1136	40	1		1	TMEM132D	12	129558549	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	5778027	129558549	4293346	155	36153											
PGAM5	192111	broad.mit.edu	37	chr12	133294121	133294121	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tatgacgcgcgccatagagaCcaccgatatcatcagccggc	10	14	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:133294121C>A	ENST00000498926.2	+	3	525	c.467C>A	c.(466-468)aCc>aAc	p.T156N	PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	156					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)		GCCATAGAGACCACCGATATC	0.632																																						ENST00000498926.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(466-468)aCc>aAc		phosphoglycerate mutase family member 5							57	62	60					12																	133294121		2203	4299	6502	SO:0001583	missense	192111					integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity	g.chr12:133294121C>A	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.467C>A	12.37:g.133294121C>A	ENSP00000438465:p.Thr156Asn					PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N|PGAM5_ENST00000543955.1_Missense_Mutation_p.T7N	p.T156N	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)	3	525	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		156					A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	c.467C>A	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019366	0.75275	.	.	ENSG00000247077	ENST00000317555;ENST00000498926;ENST00000543955;ENST00000454808	T;D	0.88896	-0.78;-2.44	5.6	5.6	0.85130	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.97225	0.9093	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98593	1.0655	10	0.87932	D	0	-3.1057	19.6338	0.95721	0.0:1.0:0.0:0.0	.	156;156	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	N	156;156;7;7	ENSP00000321503:T156N;ENSP00000438465:T156N	ENSP00000321503:T156N	T	+	2	0	PGAM5	131804194	1.000000	0.71417	0.978000	0.43139	0.113000	0.19764	7.255000	0.78338	2.636000	0.89361	0.591000	0.81541	ACC		0.632	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1	NM_138575		28	202	1	0	5.62743e-28	1	6.04063e-28	28	202					A	133294121	C	A	133294121	3	1	108	1	0	0	0	0	1	0	0	0	11818	507	18	3	477	3	PGAM5	12	133294121	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	3735572	133294121	557774	156	36154											
SAP18	10284	broad.mit.edu	37	chr13	21721345	21721345	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttaaggagattggcagcaCcatgtctggcagaaagggga	15	6	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:21721345C>T	ENST00000607003.1	+	4	358	c.326C>T	c.(325-327)aCc>aTc	p.T109I	SAP18_ENST00000382533.4_Missense_Mutation_p.T128I			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	109	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)		ATTGGCAGCACCATGTCTGGC	0.433																																						ENST00000382533.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(382-384)aCc>aTc		Sin3A-associated protein, 18kDa							103	102	102					13																	21721345		2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721345C>T	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.326C>T	13.37:g.21721345C>T	ENSP00000475925:p.Thr109Ile					SAP18_ENST00000607003.1_Missense_Mutation_p.T109I	p.T128I	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	422	+		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)	109					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.383C>T		.	.	.	.	.	.	.	.	.	.	C	19.36	3.813017	0.70912	.	.	ENSG00000150459	ENST00000382533	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.75110	0.3805	M	0.69185	2.1	0.80722	D	1	B	0.27823	0.19	B	0.41666	0.363	T	0.70572	-0.4835	9	0.40728	T	0.16	-22.1376	20.2033	0.98269	0.0:1.0:0.0:0.0	.	109	O00422	SAP18_HUMAN	I	128	.	ENSP00000371973:T128I	T	+	2	0	SAP18	20619345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.640000	0.83355	2.779000	0.95612	0.655000	0.94253	ACC		0.433	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		6	601	0	0	0	1	0	6	601					T	21721345	C	T	21721345	3	4	108	1	0	0	0	0	1	0	0	0	13882	507	18	2	397	2	SAP18	13	21721345	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		21721345	93448533	157	36155											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagcctcttattcccCggactcctggctcaccctgg	7	18	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:24465897C>T	ENST00000382140.2	-	5	593	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	MIPEP_ENST00000382172.3_5'Flank|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R178Q|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587																																						ENST00000382137.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						c.(532-534)cGg>cAg		C1q and tumor necrosis factor related protein 9B							32	41	38					13																	24465897		2201	4297	6498	SO:0001583	missense	387911					collagen		g.chr13:24465897C>T	BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.533G>A	13.37:g.24465897C>T	ENSP00000371575:p.Arg178Gln					C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron	p.R178Q	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN			3	601	-			178			Collagen-like 3.		A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	c.533G>A	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246859	0.39697	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.96136	-3.92;-3.92	4.26	3.24	0.37175	.	0.122397	0.64402	D	0.000018	D	0.89336	0.6686	L	0.48362	1.52	0.80722	D	1	B	0.29037	0.231	B	0.15484	0.013	T	0.83168	-0.0095	10	0.23302	T	0.38	.	2.9984	0.06005	0.0:0.5062:0.0:0.4938	.	178	B2RNN3	C1T9B_HUMAN	Q	178	ENSP00000371572:R178Q;ENSP00000371575:R178Q	ENSP00000371572:R178Q	R	-	2	0	C1QTNF9B	23363897	0.846000	0.29590	0.928000	0.36995	0.984000	0.73092	1.463000	0.35277	1.950000	0.56595	0.456000	0.33151	CGG		0.587	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537		6	305	0	0	0	1	0	6	305					T	24465897	C	T	24465897	3	4	108	1	0	0	0	0	1	0	0	0	1978	652	23	1	471	1	C1QTNF9B	13	24465897	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	2744552	24465897	90703981	158	36156											
CCNA1	8900	broad.mit.edu	37	chr13	37007204	37007204	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaagcaatgcactgcaGcaaccccaagagtggagttg	12	10	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:37007204G>A	ENST00000255465.4	+	2	407	c.143G>A	c.(142-144)aGc>aAc	p.S48N	CCNA1_ENST00000418263.1_Missense_Mutation_p.S47N|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N			P78396	CCNA1_HUMAN	cyclin A1	48					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)		ATGCACTGCAGCAACCCCAAG	0.602																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.(139-141)aGc>aAc		cyclin A1							116	115	115					13																	37007204		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37007204G>A	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.143G>A	13.37:g.37007204G>A	ENSP00000255465:p.Ser48Asn					CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N|CCNA1_ENST00000255465.4_Missense_Mutation_p.S48N|CCNA1_ENST00000463403.1_3'UTR	p.S47N	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	2	490	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	48	EAMHC -> SS (in Ref. 2; AAV38384).				B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.140G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311316	0.40895	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.17370	2.43;2.43;2.28;2.29	4.63	2.86	0.33363	.	0.954771	0.08588	N	0.923463	T	0.18173	0.0436	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.002	T	0.27839	-1.0062	10	0.40728	T	0.16	.	7.931	0.29901	0.1899:0.0:0.8101:0.0	.	47;48	P78396-2;P78396	.;CCNA1_HUMAN	N	4;4;47;48	ENSP00000400666:S4N;ENSP00000409873:S4N;ENSP00000396479:S47N;ENSP00000255465:S48N	ENSP00000255465:S48N	S	+	2	0	CCNA1	35905204	0.291000	0.24352	0.014000	0.15608	0.121000	0.20230	0.587000	0.23909	0.466000	0.27193	0.555000	0.69702	AGC		0.602	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		11	516	0	0	0	1	0	11	516					A	37007204	G	A	37007204	3	1	108	1	0	0	0	0	1	0	0	0	2918	971	34	2	149	2	CCNA1	13	37007204	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	12541307	37007204	78162674	159	36157											
POSTN	10631	broad.mit.edu	37	chr13	38145544	38145544	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttattgtttcaccttctttaAtcagtctgaattcaggttca	5	8	6	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:38145544A>T	ENST00000379747.4	-	18	2258	c.2141T>A	c.(2140-2142)aTt>aAt	p.I714N	POSTN_ENST00000379749.4_Missense_Mutation_p.I714N|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	714					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)		ACCTTCTTTAATCAGTCTGAA	0.383																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2140-2142)aTt>aAt		periostin, osteoblast specific factor							224	191	202					13																	38145544		2203	4299	6502	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38145544A>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2141T>A	13.37:g.38145544A>T	ENSP00000369071:p.Ile714Asn					POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.I714N|POSTN_ENST00000497145.1_5'UTR	p.I714N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	18	2258	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	714					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2141T>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444763	0.63178	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743	D;D;D;D	0.93712	-3.26;-3.13;-3.16;-3.27	5.49	1.61	0.23674	.	0.628327	0.15902	N	0.239022	D	0.91533	0.7326	L	0.36672	1.1	0.38885	D	0.956994	P;P;P	0.52692	0.523;0.955;0.93	B;P;P	0.54312	0.248;0.748;0.629	D	0.88467	0.3059	10	0.72032	D	0.01	-1.7243	6.9327	0.24449	0.74:0.1263:0.1337:0.0	.	687;687;714	B1ALD8;Q15063-3;Q15063	.;.;POSTN_HUMAN	N	687;714;714;687	ENSP00000437959:I687N;ENSP00000369073:I714N;ENSP00000369071:I714N;ENSP00000369067:I687N	ENSP00000369067:I687N	I	-	2	0	POSTN	37043544	0.980000	0.34600	0.107000	0.21349	0.993000	0.82548	2.741000	0.47426	0.108000	0.17862	0.477000	0.44152	ATT		0.383	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		61	391	0	0	0	1	0	61	391					T	38145544	A	T	38145544	3	4	108	1	0	0	0	0	1	0	0	0	12301	101	4	5	393	5	POSTN	13	38145544	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	1138340	38145544	77024334	160	36158											
PCDH17	27253	broad.mit.edu	37	chr13	58208306	58208306	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccctgcgctcctttaacttCgagcagaccaaggcttttga	9	13	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:58208306C>T	ENST00000377918.3	+	1	1652	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTTTAACTTCGAGCAGACCA	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1624-1626)ttC>ttT		protocadherin 17							48	47	47					13																	58208306		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208306C>T	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.1626C>T	13.37:g.58208306C>T							p.F542F	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1652	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	542			Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1626C>T	CCDS31986.1																																																																																				0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		10	309	0	0	0	1	0	10	309					T	58208306	C	T	58208306	2	4	108	1	0	0	0	0	0	0	0	1	11554	883	31	1		1	PCDH17	13	58208306	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	20062762	58208306	56961572	161	36159											
GAS6	2621	broad.mit.edu	37	chr13	114523857	114523858	+	Frame_Shift_Ins	INS	-	-	G													taggctgcggcgggctccacINSgggggggcaggagtgggccg					rs77167214|rs371833945|rs77565607	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:114523857_114523858insG	ENST00000327773.6	-	15	2162_2163	c.2016_2017insC	c.(2014-2019)cccgtgfs	p.V673fs	GAS6_ENST00000355761.4_Frame_Shift_Ins_p.V619fs|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Frame_Shift_Ins_p.V400fs|GAS6_ENST00000357389.3_Frame_Shift_Ins_p.V716fs|GAS6_ENST00000418959.3_Frame_Shift_Ins_p.V374fs	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	716	Laminin G-like 2. {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)	p.P672P(1)		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)				GCGGGCTCCACGGGGGGGCAGG	0.703																																						ENST00000357389.3																			1	Substitution - coding silent(1)	p.P672P(1)	endometrium(1)	central_nervous_system(4)|ovary(1)	5						c.(2143-2148)cctggafs		growth arrest-specific 6			,,	16,4206		2,12,2097					,,	2.5	0			27	14,8216		1,12,4102	no	frameshift,frameshift,frameshift	GAS6	NM_001143946.1,NM_001143945.1,NM_000820.2	,,	3,24,6199	A1A1,A1R,RR		0.1701,0.379,0.2409	,,	,,		30,12422				SO:0001589	frameshift_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114523857_114523858insG		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.2017dupC	13.37:g.114523864_114523864dupG	ENSP00000331831:p.Val673fs					GAS6_ENST00000355761.4_Frame_Shift_Ins_p.G619fs|GAS6_ENST00000327773.6_Frame_Shift_Ins_p.G673fs|GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Frame_Shift_Ins_p.G400fs|GAS6_ENST00000418959.3_Frame_Shift_Ins_p.G374fs	p.G716fs			Q14393	GAS6_HUMAN			15	2297_2298	-	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)	716					B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Frame_Shift_Ins	INS	ENST00000327773.6	37	c.2145_2146insC	CCDS45072.1																																																																																				0.703	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		9	247						9	247	---	---	---	---	G	114523858	-	G	114523857	7	5	108	1	0	1	1	0	0	0	0	0	6277	536	19	0	23	0	GAS6	13	114523857	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	56315551	114523857	646021	162	36160											
PYGL	5836	broad.mit.edu	37	chr14	51375597	51375597	+	Frame_Shift_Del	DEL	A	A	-													gaggtcaggctgcttgggagAaaaaaagccattgtcaattt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:51375597delA	ENST00000216392.7	-	18	2586	c.2254delT	c.(2254-2256)tctfs	p.S752fs	PYGL_ENST00000544180.2_Frame_Shift_Del_p.S718fs|PYGL_ENST00000532462.1_Frame_Shift_Del_p.S752fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	752					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.S752fs*6(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TGCTTGGGAGAAAAAAAGCCA	0.443																																						ENST00000216392.7																			1	Insertion - Frameshift(1)	p.S752fs*6(1)	skin(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2254-2256)ctfs		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						154	158	157					14																	51375597		2203	4300	6503	SO:0001589	frameshift_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51375597delA		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2254delT	14.37:g.51375597delA	ENSP00000216392:p.Ser752fs					PYGL_ENST00000544180.2_Frame_Shift_Del_p.S718fs|PYGL_ENST00000532462.1_Frame_Shift_Del_p.S752fs	p.S752fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			18	2586	-	all_epithelial(31;0.00825)|Breast(41;0.148)		752					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Frame_Shift_Del	DEL	ENST00000216392.7	37	c.2254delT	CCDS32080.1																																																																																				0.443	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		7	703						7	703	---	---	---	---	-	51375597	A	-	51375597	7	5	108	1	0	1	0	1	0	0	0	0	12911	246	9	0	301	0	PYGL	14	51375597	Frame_Shift_Del	DEL	A	TCGA-RB-A7B8-01A-12D-A33T-08		51375597	55973943	163	36161											
SGPP1	81537	broad.mit.edu	37	chr14	64152974	64152974	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggtatattgaagattttgCaggctaaaggaatggtgatc	12	4	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64152974C>T	ENST00000247225.6	-	3	1269	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	392					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GAAGATTTTGCAGGCTAAAGG	0.378																																						ENST00000247225.6																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10						c.(1174-1176)tGc>tAc		sphingosine-1-phosphate phosphatase 1							160	147	152					14																	64152974		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64152974C>T	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1175G>A	14.37:g.64152974C>T	ENSP00000247225:p.Cys392Tyr						p.C392Y	NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1269	-			392					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1175G>A	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600744	0.46423	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67581	-0.5634	9	0.02654	T	1	-10.149	20.6593	0.99626	0.0:1.0:0.0:0.0	.	392	Q9BX95	SGPP1_HUMAN	Y	392	.	ENSP00000247225:C392Y	C	-	2	0	SGPP1	63222727	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	TGC		0.378	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		5	469	0	0	0	1	0	5	469					T	64152974	C	T	64152974	3	4	108	1	0	0	0	0	1	0	0	0	14269	710	25	2	154	2	SGPP1	14	64152974	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	12777377	64152974	43196566	164	36162											
SYNE2	23224	broad.mit.edu	37	chr14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaagacgggggactggCcggtatcacagagcagcagt	17	9	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64685207C>T	ENST00000344113.4	+	108	19777	c.19565C>T	c.(19564-19566)gCc>gTc	p.A6522V	SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000357395.3_Missense_Mutation_p.A2907V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					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)		GGGGGACTGGCCGGTATCACA	0.527																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8719-8721)gCc>gTc		spectrin repeat containing, nuclear envelope 2							60	63	62					14																	64685207		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64685207C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19565C>T	14.37:g.64685207C>T	ENSP00000341781:p.Ala6522Val					SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V	p.A2907V			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	109	19864	+			6522					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8720C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028348	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.47177	0.86;4.09;0.85;4.15;4.09;3.72;3.25;2.92;2.74	4.83	4.83	0.62350	.	0.300803	0.23782	N	0.044608	T	0.42743	0.1216	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;P	0.38048	0.03;0.03;0.107;0.107;0.009;0.192;0.616	B;B;B;B;B;B;B	0.34824	0.01;0.033;0.061;0.023;0.01;0.082;0.19	T	0.45833	-0.9234	10	0.51188	T	0.08	.	13.2847	0.60237	0.0:1.0:0.0:0.0	.	179;2907;53;179;910;6522;6545	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	V	6545;2907;6522;3179;2907;400;305;179;53	ENSP00000350719:A6545V;ENSP00000349969:A2907V;ENSP00000341781:A6522V;ENSP00000450831:A3179V;ENSP00000378249:A2907V;ENSP00000451009:A400V;ENSP00000450605:A305V;ENSP00000391937:A179V;ENSP00000396794:A53V	ENSP00000341781:A6522V	A	+	2	0	SYNE2	63754960	0.417000	0.25432	0.013000	0.15412	0.004000	0.04260	1.003000	0.29809	2.489000	0.83994	0.561000	0.74099	GCC		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	197	0	0	0	1	0	5	197					T	64685207	C	T	64685207	3	4	108	1	0	0	0	0	1	0	0	0	15498	739	26	2	20064	2	SYNE2	14	64685207	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	532233	64685207	42664333	165	36163											
LTBP2	4053	broad.mit.edu	37	chr14	74968164	74968164	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacgcaggccatgtgggccGcatccagctggaagccctca	12	15	1	0	rs138556118		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:74968164G>A	ENST00000261978.4	-	35	5686	c.5300C>T	c.(5299-5301)gCg>gTg	p.A1767V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1767	EGF-like 19; 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)		CATGTGGGCCGCATCCAGCTG	0.617											OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5299-5301)gCg>gTg		latent transforming growth factor beta binding protein 2		G	VAL/ALA	0,4406		0,0,2203	103	102	102		5300	1.1	0	14	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense	LTBP2	NM_000428.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1767/1822	74968164	2,13004	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74968164G>A		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.5300C>T	14.37:g.74968164G>A	ENSP00000261978:p.Ala1767Val		OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1156	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1723V	p.A1767V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	35	5686	-			1767			EGF-like 19; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5300C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	5.097	0.203535	0.09704	0.0	2.33E-4	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.87650	-2.28;-2.28	5.25	1.09	0.20402	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.969671	0.08413	N	0.949507	T	0.76870	0.4048	L	0.38175	1.15	0.09310	N	1	P	0.34522	0.455	B	0.18263	0.021	T	0.57877	-0.7735	10	0.24483	T	0.36	.	8.7657	0.34702	0.5654:0.0:0.4346:0.0	.	1767	Q14767	LTBP2_HUMAN	V	1767;1723	ENSP00000261978:A1767V;ENSP00000451477:A1723V	ENSP00000261978:A1767V	A	-	2	0	LTBP2	74037917	0.004000	0.15560	0.001000	0.08648	0.992000	0.81027	1.429000	0.34903	0.017000	0.15025	0.650000	0.86243	GCG		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		6	732	0	0	0	1	0	6	732					A	74968164	G	A	74968164	3	1	108	1	0	0	0	0	1	0	0	0	9112	1087	38	1	173	1	LTBP2	14	74968164	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	10282957	74968164	32381376	166	36164											
CCDC88C	440193	broad.mit.edu	37	chr14	91760540	91760540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactgcttctgctcctcatgGtactgctccttgttctccat	6	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:91760540G>A	ENST00000389857.6	-	23	4175	c.4089C>T	c.(4087-4089)taC>taT	p.Y1363Y		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1363					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)				GCTCCTCATGGTACTGCTCCT	0.542																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(4087-4089)taC>taT		coiled-coil domain containing 88C							258	272	267					14																	91760540		2139	4251	6390	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91760540G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4089C>T	14.37:g.91760540G>A							p.Y1363Y	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			23	4175	-		all_cancers(154;0.0468)	1363					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.4089C>T	CCDS45151.1																																																																																				0.542	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		146	735	0	0	0	1	0	146	735					A	91760540	G	A	91760540	2	1	108	1	0	0	0	0	0	0	0	1	2872	1256	44	2		2	CCDC88C	14	91760540	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	16792376	91760540	15589000	167	36165											
IGDCC3	9543	broad.mit.edu	37	chr15	65622967	65622967	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcttgcttgctgggcgGtaaaacagcttgaagccgcc	14	10	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:65622967G>A	ENST00000327987.4	-	10	1925	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	558	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						TTGCTGGGCGGTAAAACAGCT	0.652																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1672-1674)taC>taT		immunoglobulin superfamily, DCC subclass, member 3							73	77	76					15																	65622967		2201	4299	6500	SO:0001819	synonymous_variant	9543							g.chr15:65622967G>A	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.1674C>T	15.37:g.65622967G>A							p.Y558Y	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			10	1925	-			558			Fibronectin type-III 2.		O95215	Silent	SNP	ENST00000327987.4	37	c.1674C>T	CCDS10205.1																																																																																				0.652	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		5	417	0	0	0	1	0	5	417					A	65622967	G	A	65622967	2	1	108	1	0	0	0	0	0	0	0	1	7598	1256	44	2		2	IGDCC3	15	65622967	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		65622967	36908425	168	36166											
SNAPC5	10302	broad.mit.edu	37	chr15	66786799	66786801	+	In_Frame_Del	DEL	TCC	TCC	-													aatctgattcttcttcctctTcctcctcctcctcttccgtc							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:66786799_66786801delTCC	ENST00000316634.5	-	3	351_353	c.270_272delGGA	c.(268-273)gaggaa>gaa	p.90_91EE>E	SNAPC5_ENST00000307979.7_In_Frame_Del_p.60_61EE>E|MIR4512_ENST00000583257.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA|SNAPC5_ENST00000395589.2_In_Frame_Del_p.90_91EE>E|SNAPC5_ENST00000566658.1_3'UTR|SNAPC5_ENST00000563480.2_In_Frame_Del_p.90_91EE>E			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa	90	Poly-Glu.				gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						ttcttcctcttcctcctcctcct	0.463																																						ENST00000316634.5																			0				breast(1)|large_intestine(1)	2						c.(268-273)gaa>ga		small nuclear RNA activating complex, polypeptide 5, 19kDa																																				SO:0001651	inframe_deletion	10302				transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr15:66786799_66786801delTCC	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"small nuclear RNA activating complex, polypeptide 5, 19kD"			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.270_272delGGA	15.37:g.66786808_66786810delTCC	ENSP00000319597:p.Glu95del					SNAPC5_ENST00000563480.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000395589.2_In_Frame_Del_p.EE94del|SNAPC5_ENST00000566658.1_3'UTR|SNAPC5_ENST00000307979.7_In_Frame_Del_p.EE64del	p.EE94del			O75971	SNPC5_HUMAN			3	351_353	-			94			Poly-Glu.		A8K7N6|Q96CF3	In_Frame_Del	DEL	ENST00000316634.5	37	c.270_272delGGA	CCDS10217.1																																																																																				0.463	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256905.2			7	578						7	578	---	---	---	---	-	66786801	TCC	-	66786799	7	5	108	1	0	1	0	1	0	0	0	0	14888	1783	62	0	28	0	SNAPC5	15	66786799	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	1163832	66786799	35744593	169	36167											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2	rs201618622	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81	81	81					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		9	705	0	0	0	1	0	9	705					C	72954797	T	C	72954797	3	2	108	1	0	0	0	0	1	0	0	0	6587	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	6167998	72954797	29576595	170	36168											
SIN3A	25942	broad.mit.edu	37	chr15	75703966	75703966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgttctgcaaggatggggccGttcccaacgagattgtcact	12	10	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:75703966G>A	ENST00000394947.3	-	6	1189	c.875C>T	c.(874-876)aCg>aTg	p.T292M	SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M|SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M	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						GGATGGGGCCGTTCCCAACGA	0.517																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(874-876)aCg>aTg		SIN3 transcription regulator family member A							205	192	196					15																	75703966		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75703966G>A	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.875C>T	15.37:g.75703966G>A	ENSP00000378402:p.Thr292Met					SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M|SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M	p.T292M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			6	1189	-			292			Interaction with REST (By similarity).			Missense_Mutation	SNP	ENST00000394947.3	37	c.875C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445493	0.63178	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	6.06	6.06	0.98353	.	0.090368	0.85682	D	0.000000	T	0.34395	0.0896	N	0.22421	0.69	0.80722	D	1	P	0.48998	0.918	B	0.36030	0.216	T	0.10314	-1.0635	10	0.30854	T	0.27	-12.2568	19.6164	0.95636	0.0:0.0:1.0:0.0	.	292	Q96ST3	SIN3A_HUMAN	M	292	ENSP00000378402:T292M;ENSP00000378403:T292M;ENSP00000353622:T292M	ENSP00000353622:T292M	T	-	2	0	SIN3A	73491019	1.000000	0.71417	0.986000	0.45419	0.925000	0.55904	7.229000	0.78088	2.871000	0.98454	0.655000	0.94253	ACG		0.517	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		7	1089	0	0	0	1	0	7	1089					A	75703966	G	A	75703966	3	1	108	1	0	0	0	0	1	0	0	0	14375	1145	40	1	3010	1	SIN3A	15	75703966	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2749169	75703966	26827426	171	36169											
NR2F2	7026	broad.mit.edu	37	chr15	96877325	96877325	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggtgcagaggggcaggatgCcgccgacccagccgacccac	15	16	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:96877325C>T	ENST00000394166.3	+	2	1852	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S|NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	155	Interaction with ZFPM2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGCAGGATGCCGCCGACCCA	0.662																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(463-465)Ccg>Tcg		nuclear receptor subfamily 2, group F, member 2							67	69	69					15																	96877325		2194	4296	6490	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877325C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.463C>T	15.37:g.96877325C>T	ENSP00000377721:p.Pro155Ser					NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S	p.P155S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	1852	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		155			Interaction with ZFPM2 (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.463C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535017	0.64972	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.95821	0.54;0.54;-3.82;-3.82	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	M	0.72353	2.195	0.80722	D	1	B;B	0.31009	0.009;0.303	B;B	0.31337	0.007;0.128	D	0.93746	0.7054	10	0.39692	T	0.17	.	18.2212	0.89902	0.0:1.0:0.0:0.0	.	155;22	P24468;Q3KQR7	COT2_HUMAN;.	S	22;155;2;2	ENSP00000401674:P22S;ENSP00000377721:P155S;ENSP00000377726:P2S;ENSP00000389853:P2S	ENSP00000377721:P155S	P	+	1	0	NR2F2	94678329	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.929000	0.70096	2.301000	0.77427	0.561000	0.74099	CCG		0.662	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			7	855	0	0	0	1	0	7	855					T	96877325	C	T	96877325	3	4	108	1	0	0	0	0	1	0	0	0	10670	739	26	2	516	2	NR2F2	15	96877325	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	21173359	96877325	5654067	172	36170											
LRRC28	123355	broad.mit.edu	37	chr15	99874263	99874263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtctatggtatgtgccgcGccatctctgccagctgccca	10	15	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:99874263G>A	ENST00000301981.3	+	6	761	c.521G>A	c.(520-522)cGc>cAc	p.R174H	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	174										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATGTGCCGCGCCATCTCTGC	0.488																																						ENST00000301981.3																			0				endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12						c.(520-522)cGc>cAc		leucine rich repeat containing 28							146	124	131					15																	99874263		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99874263G>A	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.521G>A	15.37:g.99874263G>A	ENSP00000304923:p.Arg174His					LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_Silent_p.A142A|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000331450.5_Intron	p.R174H	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		6	761	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		174					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.521G>A	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047388	0.93740	.	.	ENSG00000168904	ENST00000301981;ENST00000447360	T;T	0.29655	1.56;1.56	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.59436	1.845	0.80722	D	1	D;B	0.89917	1.0;0.027	D;B	0.79784	0.993;0.007	T	0.42172	-0.9467	10	0.48119	T	0.1	.	14.4478	0.67364	0.0716:0.0:0.9284:0.0	.	174;174	Q86X40-2;Q86X40	.;LRC28_HUMAN	H	174	ENSP00000304923:R174H;ENSP00000404520:R174H	ENSP00000304923:R174H	R	+	2	0	LRRC28	97691786	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.304000	0.78882	2.775000	0.95449	0.585000	0.79938	CGC		0.488	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		7	523	0	0	0	1	0	7	523					A	99874263	G	A	99874263	3	1	108	1	0	0	0	0	1	0	0	0	9020	1087	38	1	539	1	LRRC28	15	99874263	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2996938	99874263	2657129	173	36171											
NPRL3	8131	broad.mit.edu	37	chr16	148217	148217	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatgtggtcttgatcacccGcactagggcaggggagcagt	15	9	2	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:148217G>A	ENST00000399953.3	-	8	1252	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	284					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TTGATCACCCGCACTAGGGCA	0.572																																						ENST00000399953.3																			0				endometrium(1)|large_intestine(3)|ovary(2)	6						c.(850-852)Cgg>Tgg		nitrogen permease regulator-like 3 (S. cerevisiae)							73	78	76					16																	148217		2110	4229	6339	SO:0001583	missense	8131						protein binding	g.chr16:148217G>A		CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.850C>T	16.37:g.148217G>A	ENSP00000382834:p.Arg284Trp					NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W	p.R284W	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN			8	1252	-			284					D3DU40|Q1W6H0|Q4TT56|Q92469	Missense_Mutation	SNP	ENST00000399953.3	37	c.850C>T		.	.	.	.	.	.	.	.	.	.	G	22.4	4.285845	0.80803	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	5.62	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	.	.	.	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;0.991;0.991	T	0.76884	-0.2794	8	0.87932	D	0	-9.7056	9.6359	0.39806	0.0:0.1118:0.6119:0.2763	.	206;259;259;284	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	W	284;259;105	.	ENSP00000262313:R259W	R	-	1	2	NPRL3	88217	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.016000	0.57159	2.653000	0.90120	0.655000	0.94253	CGG		0.572	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001039476		6	413	0	0	0	1	0	6	413					A	148217	G	A	148217	3	1	108	1	0	0	0	0	1	0	0	0	10640	1086	38	1	882	1	NPRL3	16	148217	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		148217	90206536	174	36172											
SMG1	23049	broad.mit.edu	37	chr16	18841673	18841673	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcggttggattaattcaccGtactgagcatgtagtagtct	10	8	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18841673G>A	ENST00000446231.2	-	52	9223	c.8811C>T	c.(8809-8811)taC>taT	p.Y2937Y	SMG1_ENST00000389467.3_Silent_p.Y2937Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2937					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						TTAATTCACCGTACTGAGCAT	0.413																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(8809-8811)taC>taT		SMG1 phosphatidylinositol 3-kinase-related kinase							75	70	72					16																	18841673		1871	4109	5980	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18841673G>A	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.8811C>T	16.37:g.18841673G>A						SMG1_ENST00000389467.3_Silent_p.Y2937Y	p.Y2937Y			Q96Q15	SMG1_HUMAN			52	9223	-			2937					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.8811C>T	CCDS45430.1																																																																																				0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	182	0	0	0	1	0	4	182					A	18841673	G	A	18841673	2	1	108	1	0	0	0	0	0	0	0	1	14845	1140	40	1		1	SMG1	16	18841673	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	18693456	18841673	71513080	175	36173											
SMG1	23049	broad.mit.edu	37	chr16	18880528	18880528	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatggcccactgccaaaggaCagcatctgtcttcaggagat	10	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18880528C>T	ENST00000446231.2	-	20	3143	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I	SMG1_ENST00000389467.3_Missense_Mutation_p.V911I|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	911	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						TGCCAAAGGACAGCATCTGTC	0.488																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(2731-2733)Gtc>Atc		SMG1 phosphatidylinositol 3-kinase-related kinase							46	41	43					16																	18880528		1867	4064	5931	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18880528C>T	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.2731G>A	16.37:g.18880528C>T	ENSP00000402515:p.Val911Ile					SMG1_ENST00000389467.3_Missense_Mutation_p.V911I	p.V911I			Q96Q15	SMG1_HUMAN			20	3143	-			911			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.2731G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036631	0.35893	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.11712	2.75;2.75	5.22	5.22	0.72569	Armadillo-type fold (1);	0.000000	0.49305	D	0.000156	T	0.12689	0.0308	L	0.33485	1.01	0.44660	D	0.997647	P	0.49961	0.93	P	0.45474	0.482	T	0.13415	-1.0510	10	0.20046	T	0.44	.	19.1566	0.93514	0.0:1.0:0.0:0.0	.	911	Q96Q15	SMG1_HUMAN	I	911	ENSP00000402515:V911I;ENSP00000374118:V911I	ENSP00000374118:V911I	V	-	1	0	SMG1	18788029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.865000	0.62998	2.604000	0.88044	0.555000	0.69702	GTC		0.488	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		6	278	0	0	0	1	0	6	278					T	18880528	C	T	18880528	3	4	108	1	0	0	0	0	1	0	0	0	14845	478	17	2	8430	2	SMG1	16	18880528	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	38855	18880528	71474225	176	36174											
SEPHS2	22928	broad.mit.edu	37	chr16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtccctccttcctcagccGcatcccgaaagcctttgacc	6	20	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30456444G>A	ENST00000478753.2	-	1	1058	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	202					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						TTCCTCAGCCGCATCCCGAAA	0.527																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(604-606)gCg>gTg		selenophosphate synthetase 2							116	113	114					16																	30456444		2151	4240	6391	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456444G>A	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.605C>T	16.37:g.30456444G>A	ENSP00000418669:p.Ala202Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V	p.A202V			Q99611	SPS2_HUMAN			1	1058	-			202					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.605C>T		.	.	.	.	.	.	.	.	.	.	G	16.10	3.028524	0.54790	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.33865	1.39;1.39;1.39	5.51	5.51	0.81932	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.39514	1.22	0.80722	D	1	P;P	0.42409	0.779;0.658	B;B	0.39027	0.288;0.079	T	0.03175	-1.1064	10	0.17369	T	0.5	-16.5139	17.2963	0.87171	0.0:0.0:1.0:0.0	.	202;145	Q99611;F5H8F9	SPS2_HUMAN;.	V	202;145;153;202	ENSP00000418669:A202V;ENSP00000443601:A145V;ENSP00000426234:A202V	ENSP00000390233:A153V	A	-	2	0	SEPHS2	30363945	1.000000	0.71417	0.791000	0.31998	0.233000	0.25261	9.366000	0.97143	2.759000	0.94783	0.563000	0.77884	GCG		0.527	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		5	583	0	0	0	1	0	5	583					A	30456444	G	A	30456444	3	1	108	1	0	0	0	0	1	0	0	0	14105	1087	38	1	745	1	SEPHS2	16	30456444	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	11575916	30456444	59898309	177	36175											
C16orf93	90835	broad.mit.edu	37	chr16	30768893	30768893	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttcctcgctggccttgagCcgctcctccaccagcccctg	8	20	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30768893C>T	ENST00000543610.1	-	9	1861	c.900G>A	c.(898-900)cgG>cgA	p.R300R	PHKG2_ENST00000424889.3_Intron|C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000563588.1_3'UTR	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	300										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGGCCTTGAGCCGCTCCTCCA	0.607																																						ENST00000543610.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(898-900)cgG>cgA		chromosome 16 open reading frame 93							91	89	90					16																	30768893		2197	4300	6497	SO:0001819	synonymous_variant	90835							g.chr16:30768893C>T	BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.900G>A	16.37:g.30768893C>T						C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR	p.R300R	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN			9	1861	-			300					A1A4V8|F5GX13|Q569G2	Silent	SNP	ENST00000543610.1	37	c.900G>A	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	4.971	0.180321	0.09443	.	.	ENSG00000196118	ENST00000535476	.	.	.	5.97	2.97	0.34412	.	.	.	.	.	T	0.54447	0.1859	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	T	0.45071	-0.9286	4	.	.	.	-7.5983	6.1942	0.20540	0.0:0.6832:0.1532:0.1635	.	.	.	.	D	167	.	.	G	-	2	0	C16orf93	30676394	0.922000	0.31269	0.134000	0.22075	0.562000	0.35680	0.541000	0.23207	0.421000	0.25980	0.655000	0.94253	GGC		0.607	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397089.1	NM_001014979		5	687	0	0	0	1	0	5	687					T	30768893	C	T	30768893	2	4	108	1	0	0	0	0	0	0	0	1	1851	726	26	2		2	C16orf93	16	30768893	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	312449	30768893	59585860	178	36176											
ZNF646	9726	broad.mit.edu	37	chr16	31089682	31089682	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcatcggaagcgggctggCggtgccagcggtgggagaga	21	9	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:31089682C>T	ENST00000394979.2	+	1	2460	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	ZNF646_ENST00000300850.5_Silent_p.G679G			O15015	ZN646_HUMAN	zinc finger protein 646	679					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						AGCGGGCTGGCGGTGCCAGCG	0.652																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(2035-2037)ggC>ggT		zinc finger protein 646							26	33	30					16																	31089682		2195	4289	6484	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31089682C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2037C>T	16.37:g.31089682C>T						ZNF646_ENST00000300850.5_Silent_p.G679G	p.G679G			O15015	ZN646_HUMAN			1	2460	+			679					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.2037C>T																																																																																					0.652	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		5	347	0	0	0	1	0	5	347					T	31089682	C	T	31089682	2	4	108	1	0	0	0	0	0	0	0	1	18115	755	27	1		1	ZNF646	16	31089682	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	320789	31089682	59265071	179	36177											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	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						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	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.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		12	316						12	316	---	---	---	---	-	69726422	CAG	-	69726420	7	5	108	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-RB-A7B8-01A-12D-A33T-08	38636738	69726420	20628333	180	36178											
PRPF8	10594	broad.mit.edu	37	chr17	1585571	1585571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtttgaggactgcgtgggGcatgtactttagggcactgg	17	6	0	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:1585571G>A	ENST00000572621.1	-	3	551	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	96					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)		ACTGCGTGGGGCATGTACTTT	0.507																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(286-288)Ccc>Tcc		pre-mRNA processing factor 8							174	168	170					17																	1585571		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585571G>A	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.286C>T	17.37:g.1585571G>A	ENSP00000460348:p.Pro96Ser					PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S	p.P96S			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	3	551	-			96					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.286C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656010	0.88056	.	.	ENSG00000174231	ENST00000304992	T	0.67698	-0.28	5.6	5.6	0.85130	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89501	0.3764	10	0.87932	D	0	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	96	Q6P2Q9	PRP8_HUMAN	S	96	ENSP00000304350:P96S	ENSP00000304350:P96S	P	-	1	0	PRPF8	1532321	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.314000	0.96306	2.642000	0.89623	0.555000	0.69702	CCC		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			5	461	0	0	0	1	0	5	461					A	1585571	G	A	1585571	3	1	108	1	0	0	0	0	1	0	0	0	12622	1203	42	2	6881	2	PRPF8	17	1585571	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		1585571	79609639	181	36179											
NLRP1	22861	broad.mit.edu	37	chr17	5461960	5461961	+	Frame_Shift_Del	DEL	TC	TC	-													gcagtgaaagatgttctccaTctctctctccccctcatcac					rs61753138	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:5461960_5461961delTC	ENST00000572272.1	-	4	2054_2055	c.2055_2056delGA	c.(2053-2058)gagatgfs	p.EM685fs	NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000345221.3_Frame_Shift_Del_p.EM685fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	685					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)				ATGTTCTCCATCTCTCTCTCCC	0.54																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2053-2058)gatgfs		NLR family, pyrin domain containing 1																																				SO:0001589	frameshift_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5461960_5461961delTC	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.2055_2056delGA	17.37:g.5461968_5461969delTC	ENSP00000460475:p.Glu685fs					NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EM685fs|NLRP1_ENST00000571307.1_5'UTR	p.EM685fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2609_2610	-		Colorectal(1115;3.48e-05)	685					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Del	DEL	ENST00000572272.1	37	c.2055_2056delGA	CCDS42246.1																																																																																				0.54	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	677						7	677	---	---	---	---	-	5461961	TC	-	5461960	7	5	108	1	0	1	0	1	0	0	0	0	10513	1435	50	0	2496	0	NLRP1	17	5461960	Frame_Shift_Del	DEL	TC	TCGA-RB-A7B8-01A-12D-A33T-08	3876389	5461960	75733250	182	36180											
ALOX15B	247	broad.mit.edu	37	chr17	7948584	7948584	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttcttggtggatcacgGcatcctctctggcatccaga	10	13	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:7948584G>A	ENST00000380183.4	+	7	1017	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ALOX15B_ENST00000572022.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	293	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GTGGATCACGGCATCCTCTCT	0.562																																						ENST00000380183.4																			0				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						c.(877-879)gGc>gAc		arachidonate 15-lipoxygenase, type B							90	92	91					17																	7948584		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7948584G>A	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.878G>A	17.37:g.7948584G>A	ENSP00000369530:p.Gly293Asp					ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D	p.G293D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			7	1017	+			293			Lipoxygenase.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.878G>A	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	7.544	0.661307	0.14645	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.89617	-2.54;-2.54	4.09	-0.69	0.11309	Lipoxygenase, C-terminal (3);	0.404263	0.26700	N	0.022951	T	0.74943	0.3783	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.10296	0.003;0.002;0.002;0.003	B;B;B;B	0.12837	0.008;0.005;0.005;0.008	T	0.55283	-0.8165	10	0.15499	T	0.54	-6.6648	0.4088	0.00437	0.2487:0.1455:0.3088:0.297	.	293;293;293;293	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	D	293	ENSP00000369520:G293D;ENSP00000369530:G293D	ENSP00000344337:G293D	G	+	2	0	ALOX15B	7889309	0.108000	0.22018	0.015000	0.15790	0.466000	0.32739	3.128000	0.50492	-0.297000	0.08934	0.467000	0.42956	GGC		0.562	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			5	631	0	0	0	1	0	5	631					A	7948584	G	A	7948584	3	1	108	1	0	0	0	0	1	0	0	0	539	1203	42	2	904	2	ALOX15B	17	7948584	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2486624	7948584	73246626	183	36181											
FAM83G	644815	broad.mit.edu	37	chr17	18874844	18874844	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcggtcatggggcggGcattttgggccagtcttggg	17	9	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:18874844G>A	ENST00000388995.6	-	6	2523	c.2300C>T	c.(2299-2301)gCc>gTc	p.A767V	SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	767					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						CATGGGGCGGGCATTTTGGGC	0.652																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2299-2301)gCc>gTc		family with sequence similarity 83, member G							78	88	85					17																	18874844		1977	4145	6122	SO:0001583	missense	644815							g.chr17:18874844G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2300C>T	17.37:g.18874844G>A	ENSP00000373647:p.Ala767Val					FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron	p.A767V			A6ND36	FA83G_HUMAN			6	2523	-			767					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2300C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743933	0.15642	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12039	2.72;2.72	5.04	2.98	0.34508	.	1.318120	0.05124	N	0.491337	T	0.15219	0.0367	L	0.51422	1.61	0.09310	N	1	B	0.20261	0.043	B	0.19946	0.027	T	0.33085	-0.9882	10	0.23891	T	0.37	-5.5706	8.3552	0.32327	0.089:0.1598:0.7512:0.0	.	767	A6ND36	FA83G_HUMAN	V	767	ENSP00000373647:A767V;ENSP00000343279:A767V	ENSP00000343279:A767V	A	-	2	0	FAM83G	18815569	0.002000	0.14202	0.001000	0.08648	0.069000	0.16628	1.162000	0.31786	1.209000	0.43321	0.561000	0.74099	GCC		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			6	838	0	0	0	1	0	6	838					A	18874844	G	A	18874844	3	1	108	1	0	0	0	0	1	0	0	0	5664	1203	42	2	175	2	FAM83G	17	18874844	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	10926260	18874844	62320366	184	36182											
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	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.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		7	659	0	0	0	1	0	7	659					C	33520392	G	C	33520392	3	2	108	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	14645548	33520392	47674818	185	36183											
CDC6	990	broad.mit.edu	37	chr17	38451657	38451657	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagttcaattctgtgcccGcaaagtctctgctgtttcag	9	11	4	0	rs4135016	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:38451657G>A	ENST00000209728.4	+	8	1604	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	378			R -> H (in dbSNP:rs4135016). {ECO:0000269|Ref.3}.		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						TTCTGTGCCCGCAAAGTCTCT	0.403													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17068	0.0		0.0	False		,,,				2504	0.0					ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.(1132-1134)cGc>cAc		cell division cycle 6		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	202	186	191		1133	6	1	17	dbSNP_108	191	0,8600		0,0,4300	yes	missense	CDC6	NM_001254.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	378/561	38451657	2,13004	2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451657G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1133G>A	17.37:g.38451657G>A	ENSP00000209728:p.Arg378His						p.R378H	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			8	1604	+			378		R -> H (in dbSNP:rs4135016).			Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1133G>A	CCDS11365.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	32	5.111037	0.94339	4.54E-4	0.0	ENSG00000094804	ENST00000209728	T	0.57907	0.37	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	H	0.95504	3.68	0.58432	D	0.999991	D	0.89917	1.0	D	0.77004	0.989	D	0.86213	0.1626	10	0.72032	D	0.01	-35.3611	19.185	0.93639	0.0:0.0:1.0:0.0	rs4135016;rs4135016	378	Q99741	CDC6_HUMAN	H	378	ENSP00000209728:R378H	ENSP00000209728:R378H	R	+	2	0	CDC6	35705183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.582000	0.90791	2.835000	0.97688	0.591000	0.81541	CGC		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			6	806	0	0	0	1	0	6	806					A	38451657	G	A	38451657	3	1	108	1	0	0	0	0	1	0	0	0	3092	1087	38	1	1159	1	CDC6	17	38451657	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4931265	38451657	42743553	186	36184											
HAP1	9001	broad.mit.edu	37	chr17	39881124	39881124	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtgaagggcccaagccGctggcctccagggctgatgt	16	11	0	2	rs370925764		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39881124G>A	ENST00000310778.5	-	12	1854	c.1845C>T	c.(1843-1845)agC>agT	p.S615S	HAP1_ENST00000393939.2_Silent_p.S538S|HAP1_ENST00000341193.5_Silent_p.S546S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Silent_p.S563S			P54257	HAP1_HUMAN	huntingtin-associated protein 1	615					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGCCCAAGCCGCTGGCCTCCA	0.607																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1612-1614)agC>agT		huntingtin-associated protein 1		G	,,	0,4406		0,0,2203	199	181	187		1638,1614,1689	-5.3	0.4	17		187	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	HAP1	NM_001079870.1,NM_001079871.1,NM_177977.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	546/603,538/595,563/620	39881124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881124G>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1845C>T	17.37:g.39881124G>A						HAP1_ENST00000347901.4_Silent_p.S563S|HAP1_ENST00000310778.5_Silent_p.S615S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.S546S	p.S538S			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1623	-		Breast(137;0.000162)	615			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37	c.1614C>T																																																																																					0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		7	1191	0	0	0	1	0	7	1191					A	39881124	G	A	39881124	2	1	108	1	0	0	0	0	0	0	0	1	6983	1078	38	1		1	HAP1	17	39881124	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1429467	39881124	41314086	187	36185											
EZH1	2145	broad.mit.edu	37	chr17	40865346	40865346	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgactatgtggtgccttctcCggcgacgaccagagcacttg	12	12	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:40865346C>T	ENST00000428826.2	-	11	1206	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q|EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	362					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTGCCTTCTCCGGCGACGACC	0.552																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1084-1086)cGg>cAg		enhancer of zeste homolog 1 (Drosophila)							119	102	108					17																	40865346		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40865346C>T		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.1085G>A	17.37:g.40865346C>T	ENSP00000404658:p.Arg362Gln					EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q|EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q|EZH1_ENST00000590078.1_Missense_Mutation_p.R292Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q	p.R362Q			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	11	1206	-		Breast(137;0.00104)	362					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1085G>A	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008400	0.75046	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.86030	-2.06;-2.06	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	L	0.46157	1.445	0.58432	D	0.999998	P;P;P;P;P	0.46656	0.764;0.882;0.882;0.72;0.812	B;B;B;B;B	0.35859	0.212;0.209;0.209;0.209;0.149	T	0.78558	-0.2158	10	0.22706	T	0.39	.	19.0657	0.93108	0.0:1.0:0.0:0.0	.	223;322;368;292;362	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	Q	365;362;322;223	ENSP00000404658:R362Q;ENSP00000404071:R223Q	ENSP00000264646:R365Q	R	-	2	0	EZH1	38118872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.590000	0.74085	2.734000	0.93682	0.555000	0.69702	CGG		0.552	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		5	522	0	0	0	1	0	5	522					T	40865346	C	T	40865346	3	4	108	1	0	0	0	0	1	0	0	0	5351	652	23	1	1202	1	EZH1	17	40865346	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	984222	40865346	40329864	188	36186											
CCDC43	124808	broad.mit.edu	37	chr17	42756252	42756253	+	Frame_Shift_Ins	INS	-	-	T													tcgctcccctctctgtgtccINStttttttttccttttccttg							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:42756252_42756253insT	ENST00000315286.8	-	5	654_655	c.646_647insA	c.(646-648)aggfs	p.R216fs	CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron|RP11-1072C15.4_ENST00000591628.1_RNA|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.R219fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	216										lung(2)	2		Prostate(33;0.0322)				TCTCTGTGTCCTTTTTTTTTCC	0.465																																						ENST00000315286.8																			0				lung(2)	2						c.(646-648)gacfs		coiled-coil domain containing 43																																				SO:0001589	frameshift_variant	124808							g.chr17:42756252_42756253insT	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.647dupA	17.37:g.42756261_42756261dupT	ENSP00000323782:p.Arg216fs					C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.D219fs|CCDC43_ENST00000457422.2_3'UTR	p.D216fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN			5	654_655	-		Prostate(33;0.0322)	216					C9JVK9	Frame_Shift_Ins	INS	ENST00000315286.8	37	c.646_647insA	CCDS45704.1																																																																																				0.465	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		7	162						7	162	---	---	---	---	T	42756253	-	T	42756252	7	5	108	1	0	1	1	0	0	0	0	0	2822	681	24	0	31	0	CCDC43	17	42756252	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08	1890906	42756252	38438958	189	36187											
NFE2L1	4779	broad.mit.edu	37	chr17	46136986	46136986	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcaggagaggaagccaAaggaccggagaaagtgagcc	18	8	0	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:46136986A>G	ENST00000362042.3	+	6	2918	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	768					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAAGCCAAAGGACCGGAG	0.647																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2302-2304)Aag>Gag		nuclear factor, erythroid 2-like 1							23	27	26					17																	46136986		2203	4298	6501	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136986A>G	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.2302A>G	17.37:g.46136986A>G	ENSP00000354855:p.Lys768Glu					NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000361665.3_Missense_Mutation_p.K757E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E	p.K768E	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	2918	+			768					D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.2302A>G	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723743	0.68959	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.29142	1.9;1.58	5.89	5.89	0.94794	.	0.220853	0.48767	D	0.000174	T	0.47655	0.1457	L	0.43923	1.385	0.54753	D	0.999983	D;D;D;D	0.71674	0.994;0.989;0.958;0.998	P;P;P;D	0.75484	0.885;0.709;0.827;0.986	T	0.44847	-0.9301	10	0.66056	D	0.02	-12.13	13.8341	0.63400	1.0:0.0:0.0:0.0	.	612;580;738;768	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	E	787;768;738;612	ENSP00000350072:K738E;ENSP00000445811:K612E	ENSP00000350072:K738E	K	+	1	0	NFE2L1	43491985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.257000	0.74773	0.460000	0.39030	AAG		0.647	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		15	187	0	0	0	1	0	15	187					G	46136986	A	G	46136986	3	3	108	1	0	0	0	0	1	0	0	0	10409	15	1	4	2320	4	NFE2L1	17	46136986	Missense_Mutation	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08	3380734	46136986	35058224	190	36188											
TRIM37	4591	broad.mit.edu	37	chr17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctccttttctcaaccGcaggcaagccactgaaaact	5	14	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848					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)	p.A848V(1)		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)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey Nanism																													ENST00000376149.3																			1	Substitution - Missense(1)	p.A848V(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2176-2178)gCg>gTg		tripartite motif containing 37							125	133	130					17																	57093004		2203	4300	6503	SO:0001583	missense	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57093004G>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2543C>T	17.37:g.57093004G>A	ENSP00000262294:p.Ala848Val					TRIM37_ENST00000262294.7_Missense_Mutation_p.A848V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V|TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V	p.A726V			O94972	TRI37_HUMAN			21	2986	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		848					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.2177C>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG		0.398	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		7	792	0	0	0	1	0	7	792					A	57093004	G	A	57093004	3	1	108	1	0	0	0	0	1	0	0	0	16564	1087	38	1	375	1	TRIM37	17	57093004	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	10956018	57093004	24102206	191	36189											
TEX2	55852	broad.mit.edu	37	chr17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-													ccctgaactcctcctcctctTcctcctcctcctcgccggat							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				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)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	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.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		7	532						7	532	---	---	---	---	-	62291440	TCC	-	62291438	7	5	108	1	0	1	0	1	0	0	0	0	15833	1783	62	0	3308	0	TEX2	17	62291438	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	5198434	62291438	18903772	192	36190											
FN3KRP	79672	broad.mit.edu	37	chr17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttttactccgcctaccacgGcaaaatccccaaggccccag	6	18	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:80684911G>A	ENST00000269373.6	+	6	867	c.794G>A	c.(793-795)gGc>gAc	p.G265D	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458). {ECO:0000305}.			kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(793-795)gGc>gAc		fructosamine 3 kinase related protein							61	65	64					17																	80684911		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80684911G>A	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.794G>A	17.37:g.80684911G>A	ENSP00000269373:p.Gly265Asp					FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	p.G265D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	867	+	Breast(20;0.000523)|all_neural(118;0.0952)		265	G -> C (in Ref. 4; AAH01458).				Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.794G>A	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578636	0.13686	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.50277	0.75;0.75	5.82	3.82	0.43975	Protein kinase-like domain (1);	0.519883	0.25294	N	0.031701	T	0.24470	0.0593	N	0.05031	-0.125	0.24613	N	0.993718	B	0.10296	0.003	B	0.16722	0.016	T	0.12142	-1.0559	10	0.33141	T	0.24	-18.7461	8.1316	0.31031	0.1411:0.1285:0.7304:0.0	.	265	Q9HA64	KT3K_HUMAN	D	265;215	ENSP00000269373:G265D;ENSP00000444994:G215D	ENSP00000269373:G265D	G	+	2	0	FN3KRP	78278200	0.830000	0.29337	0.918000	0.36340	0.024000	0.10985	2.387000	0.44389	1.472000	0.48140	0.655000	0.94253	GGC		0.502	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		6	1076	0	0	0	1	0	6	1076					A	80684911	G	A	80684911	3	1	108	1	0	0	0	0	1	0	0	0	5989	1203	42	2	816	2	FN3KRP	17	80684911	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	18393473	80684911	510299	193	36191											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	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																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	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						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		9	280						9	280	---	---	---	---	-	12986929	TCC	-	12986927	6	5	108	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08		12986927	65090321	194	36192											
CDH2	1000	broad.mit.edu	37	chr18	25572669	25572669	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttgggtcggtctggatggCgaaccgtccagtaggatctc	15	9	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:25572669C>T	ENST00000269141.3	-	9	1717	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	CDH2_ENST00000399380.3_Missense_Mutation_p.A401T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	432	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						GTCTGGATGGCGAACCGTCCA	0.532																																						ENST00000269141.3																			0				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						c.(1294-1296)Gcc>Acc		cadherin 2, type 1, N-cadherin (neuronal)							197	154	169					18																	25572669		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572669C>T	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.1294G>A	18.37:g.25572669C>T	ENSP00000269141:p.Ala432Thr					CDH2_ENST00000399380.3_Missense_Mutation_p.A401T	p.A432T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			9	1717	-			432			Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1294G>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	3.023	-0.201263	0.06219	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.49139	0.79;0.79	5.39	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.160521	0.56097	D	0.000022	T	0.25975	0.0633	N	0.13140	0.3	0.46222	D	0.998936	B;B	0.13594	0.001;0.008	B;B	0.11329	0.003;0.006	T	0.09122	-1.0689	10	0.08381	T	0.77	.	10.1311	0.42680	0.0:0.8447:0.0:0.1553	.	401;432	A8MWK3;P19022	.;CADH2_HUMAN	T	432;401	ENSP00000269141:A432T;ENSP00000382312:A401T	ENSP00000269141:A432T	A	-	1	0	CDH2	23826667	1.000000	0.71417	0.993000	0.49108	0.455000	0.32408	3.907000	0.56348	2.674000	0.91012	0.655000	0.94253	GCC		0.532	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		62	319	0	0	0	1	0	62	319					T	25572669	C	T	25572669	3	4	108	1	0	0	0	0	1	0	0	0	3114	768	27	1	1458	1	CDH2	18	25572669	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	12585742	25572669	52504579	195	36193											
RNF126	55658	broad.mit.edu	37	chr19	648262	648263	+	Frame_Shift_Ins	INS	-	-	G													gtgaggctttttcggcagacINSggggcagctgtcgtgctttg							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:648262_648263insG	ENST00000292363.5	-	9	956_957	c.801_802insC	c.(799-804)cccgtcfs	p.V268fs		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCGGCAGACGGGGCAGCTGT	0.693																																						ENST00000292363.5																			0				lung(1)	1						c.(799-804)cctctgfs		ring finger protein 126																																				SO:0001589	frameshift_variant	55658						protein binding|zinc ion binding	g.chr19:648262_648263insG	BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.802dupC	19.37:g.648266_648266dupG	ENSP00000292363:p.Val268fs						p.L268fs	NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	956_957	-		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)	268						Frame_Shift_Ins	INS	ENST00000292363.5	37	c.801_802insC	CCDS12039.1																																																																																				0.693	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452104.2	NM_017876		8	32						8	32	---	---	---	---	G	648263	-	G	648262	7	5	108	1	0	1	1	0	0	0	0	0	13485	536	19	0	137	0	RNF126	19	648262	Frame_Shift_Ins	INS	-	TCGA-RB-A7B8-01A-12D-A33T-08		648262	58480721	196	36194											
HMHA1	23526	broad.mit.edu	37	chr19	1073163	1073163	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcagacctccttgaggcccGccgcccgcgggcccacgagt	13	18	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1073163G>A	ENST00000313093.2	+	3	668	c.437G>A	c.(436-438)cGc>cAc	p.R146H	HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	146					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)		CTTGAGGCCCGCCGCCCGCGG	0.642																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(436-438)cGc>cAc		histocompatibility (minor) HA-1							37	45	43					19																	1073163		2199	4295	6494	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073163G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.437G>A	19.37:g.1073163G>A	ENSP00000316772:p.Arg146His					HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000586866.1_Missense_Mutation_p.R150H|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T	p.R146H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	668	+		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)	146					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.437G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225757	0.39300	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039;ENST00000543365	T;T;T	0.25085	1.96;1.96;1.82	4.16	4.16	0.48862	.	0.068586	0.64402	D	0.000017	T	0.43100	0.1232	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.68765	0.878;0.96;0.862	T	0.27054	-1.0085	10	0.45353	T	0.12	-29.6413	9.9138	0.41421	0.1043:0.0:0.8957:0.0	.	162;29;146	F6QP70;F5H1R4;Q92619	.;.;HMHA1_HUMAN	H	162;146;146;140;29	ENSP00000439601:R162H;ENSP00000316772:R146H;ENSP00000438979:R29H	ENSP00000316772:R146H	R	+	2	0	HMHA1	1024163	1.000000	0.71417	0.997000	0.53966	0.498000	0.33706	3.603000	0.54074	1.855000	0.53841	0.491000	0.48974	CGC		0.642	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			7	623	0	0	0	1	0	7	623					A	1073163	G	A	1073163	3	1	108	1	0	0	0	0	1	0	0	0	7270	1087	38	1	447	1	HMHA1	19	1073163	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	424901	1073163	58055820	197	36195											
DAZAP1	26528	broad.mit.edu	37	chr19	1425952	1425952	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcattttcacgacatcatggGcaaaaaagtgtgtagttgta	10	6	2	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1425952G>A	ENST00000233078.4	+	7	700	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000336761.6_Missense_Mutation_p.G180D	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	180	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCATGGGCAAAAAAGTG	0.413																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(538-540)gGc>gAc		DAZ associated protein 1							249	220	229					19																	1425952		2202	4300	6502	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1425952G>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.539G>A	19.37:g.1425952G>A	ENSP00000233078:p.Gly180Asp					DAZAP1_ENST00000233078.4_Missense_Mutation_p.G180D|DAZAP1_ENST00000586579.1_Intron	p.G180D	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	744	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	180			RRM 2.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.539G>A	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319314	0.81469	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.81821	-1.54;-1.54	4.26	4.26	0.50523	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.993	D;P;P	0.87578	0.998;0.9;0.839	D	0.89738	0.3931	10	0.66056	D	0.02	.	16.0567	0.80812	0.0:0.0:1.0:0.0	.	247;180;180	Q5IRN4;Q96EP5;Q96EP5-2	.;DAZP1_HUMAN;.	D	180	ENSP00000233078:G180D;ENSP00000337132:G180D	ENSP00000233078:G180D	G	+	2	0	DAZAP1	1376952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.744000	0.98853	2.085000	0.62840	0.655000	0.94253	GGC		0.413	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		6	665	0	0	0	1	0	6	665					A	1425952	G	A	1425952	3	1	108	1	0	0	0	0	1	0	0	0	4255	1203	42	2	565	2	DAZAP1	19	1425952	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	352789	1425952	57703031	198	36196											
KRI1	65095	broad.mit.edu	37	chr19	10673457	10673457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcaggtacatgggccGcactttcttctgcttctcca	8	14	4	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:10673457G>A	ENST00000312962.6	-	4	368	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Missense_Mutation_p.R113W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	111	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)			TACATGGGCCGCACTTTCTTC	0.557																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(349-351)Cgg>Tgg		KRI1 homolog (S. cerevisiae)							282	229	247					19																	10673457		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10673457G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.349C>T	19.37:g.10673457G>A	ENSP00000320917:p.Arg117Trp					KRI1_ENST00000361821.5_Missense_Mutation_p.R113W|KRI1_ENST00000537964.1_Intron	p.R117W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	368	-			117			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.349C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497981	0.64186	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.34472	1.36;1.36;1.36	4.36	2.0	0.26442	.	0.498135	0.18588	N	0.136801	T	0.27098	0.0664	L	0.39898	1.24	0.09310	N	0.999998	D;D	0.63046	0.985;0.992	B;B	0.40534	0.232;0.332	T	0.15292	-1.0442	10	0.87932	D	0	-0.1422	9.9337	0.41539	0.0:0.0:0.3644:0.6356	.	117;113	Q8N9T8;D3YTE0	KRI1_HUMAN;.	W	117;113;117;108	ENSP00000320917:R117W;ENSP00000355366:R113W;ENSP00000445789:R108W	ENSP00000320917:R117W	R	-	1	2	KRI1	10534457	0.335000	0.24748	0.040000	0.18447	0.690000	0.40134	2.616000	0.46376	0.775000	0.33450	0.393000	0.25936	CGG		0.557	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		6	919	0	0	0	1	0	6	919					A	10673457	G	A	10673457	3	1	108	1	0	0	0	0	1	0	0	0	8474	1086	38	1	1844	1	KRI1	19	10673457	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	9247505	10673457	48455526	199	36197											
SARS2	54938	broad.mit.edu	37	chr19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgctgtagccctcgcgcGcatactcgtacaggaggttc	13	13	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|MRPS12_ENST00000308018.4_5'UTR|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|MRPS12_ENST00000407800.2_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(142-144)gCg>gTg		seryl-tRNA synthetase 2, mitochondrial							97	84	88					19																	39421234		2203	4300	6503	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421234G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron	p.A48V	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	302	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		48					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.143C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG		0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		7	700	0	0	0	1	0	7	700					A	39421234	G	A	39421234	3	1	108	1	0	0	0	0	1	0	0	0	13895	1087	38	1	1558	1	SARS2	19	39421234	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	28747777	39421234	19707749	200	36198											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733491	56733491	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcccacaggtgtggctTctccttgaggctcttcttgg	12	11	3	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733491T>C	ENST00000587340.1	-	7	1639	c.944A>G	c.(943-945)gAa>gGa	p.E315G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGTGTGGCTTCTCCTTGAGG	0.557																																						ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(943-945)gAa>gGa		zinc finger and SCAN domain containing 5A							77	81	80					19																	56733491		2203	4298	6501	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733491T>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.944A>G	19.37:g.56733491T>C	ENSP00000467631:p.Glu315Gly					ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E314G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G	p.E315G			Q9BUG6	ZSA5A_HUMAN			7	1639	-			315					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.944A>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.057961	0.00390	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06687	3.29;3.27	2.27	-4.53	0.03462	.	.	.	.	.	T	0.01870	0.0059	N	0.00859	-1.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40850	-0.9541	9	0.28530	T	0.3	.	2.0171	0.03500	0.1387:0.2122:0.138:0.5111	.	198;315	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	315;198	ENSP00000375593:E315G;ENSP00000254165:E198G	ENSP00000254165:E198G	E	-	2	0	ZSCAN5A	61425303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.774000	0.01784	-1.795000	0.01255	-1.066000	0.02275	GAA		0.557	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		8	567	0	0	0	1	0	8	567					C	56733491	T	C	56733491	3	2	108	1	0	0	0	0	1	0	0	0	18291	1783	62	4	550	4	ZSCAN5A	19	56733491	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	17312257	56733491	2395492	201	36199			2	28		2	2	13	T		8.837772e-05
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733503	56733503	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcttctccttgaggcTcttcttgggaaatggaggag	15	7	3	1	rs575289949	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733503T>C	ENST00000587340.1	-	7	1627	c.932A>G	c.(931-933)gAg>gGg	p.E311G	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	311					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTTGAGGCTCTTCTTGGGA	0.547													T|||	2	0.000399361	0.0015	0.0	5008	,	,		15641	0.0		0.0	False		,,,				2504	0.0					ENST00000587340.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(931-933)gAg>gGg		zinc finger and SCAN domain containing 5A							80	84	83					19																	56733503		2203	4297	6500	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733503T>C	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.932A>G	19.37:g.56733503T>C	ENSP00000467631:p.Glu311Gly					ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.E310G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G	p.E311G			Q9BUG6	ZSA5A_HUMAN			7	1627	-			311					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.932A>G	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	0.370	-0.934381	0.02340	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06687	3.27;3.28	1.69	-3.36	0.04913	.	.	.	.	.	T	0.02571	0.0078	N	0.04162	-0.26	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44019	-0.9355	9	0.21014	T	0.42	.	0.2751	0.00237	0.2176:0.2585:0.1643:0.3596	.	194;311	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	311;194	ENSP00000375593:E311G;ENSP00000254165:E194G	ENSP00000254165:E194G	E	-	2	0	ZSCAN5A	61425315	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.487000	0.02310	-0.908000	0.03857	-0.366000	0.07423	GAG		0.547	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		9	592	0	0	0	1	0	9	592					C	56733503	T	C	56733503	3	2	108	1	0	0	0	0	1	0	0	0	18291	1551	54	4	562	4	ZSCAN5A	19	56733503	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	12	56733503	2395480	202	36200			2	28		2	2	13	T		8.837772e-05
ZNF749	388567	broad.mit.edu	37	chr19	57956103	57956103	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aagtcccacctagttcagcaTgagaaaatccacactgatgc	7	12	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:57956103T>C	ENST00000334181.4	+	3	1837	c.1587T>C	c.(1585-1587)caT>caC	p.H529H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|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)		TAGTTCAGCATGAGAAAATCC	0.453																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1585-1587)caT>caC		zinc finger protein 749							97	93	94					19																	57956103		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956103T>C	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.1587T>C	19.37:g.57956103T>C						AC004076.9_ENST00000596831.1_Intron	p.H529H	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1837	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	529						Silent	SNP	ENST00000334181.4	37	c.1587T>C	CCDS33132.2																																																																																				0.453	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		6	436	0	0	0	1	0	6	436					C	57956103	T	C	57956103	2	2	108	1	0	0	0	0	0	0	0	1	18184	1461	51	4		4	ZNF749	19	57956103	Silent	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08	1222600	57956103	1172880	203	36201											
ZNF606	80095	broad.mit.edu	37	chr19	58490664	58490664	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attccagctgaaggcttttcCacatttattacattcatagg	6	9	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:58490664C>T	ENST00000341164.4	-	7	2004	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAGGCTTTTCCACATTTATTA	0.358																																						ENST00000341164.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1384-1386)Gga>Aga		zinc finger protein 606							56	61	59					19																	58490664		2203	4299	6502	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490664C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1384G>A	19.37:g.58490664C>T	ENSP00000343617:p.Gly462Arg					ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	p.G462R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2004	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	462					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1384G>A	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223390	0.58668	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.01484	4.84;4.84;4.84	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000365	T	0.08935	0.0221	M	0.67517	2.055	0.53688	D	0.999976	D	0.89917	1.0	D	0.68483	0.958	T	0.01648	-1.1304	10	0.66056	D	0.02	.	16.585	0.84725	0.0:1.0:0.0:0.0	.	462	Q8WXB4	ZN606_HUMAN	R	462;372;462	ENSP00000343617:G462R;ENSP00000445624:G372R;ENSP00000446972:G462R	ENSP00000343617:G462R	G	-	1	0	ZNF606	63182476	0.976000	0.34144	1.000000	0.80357	0.997000	0.91878	2.375000	0.44283	2.515000	0.84797	0.655000	0.94253	GGA		0.358	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		39	220	0	0	0	1	0	39	220					T	58490664	C	T	58490664	3	4	108	1	0	0	0	0	1	0	0	0	18085	603	21	2	998	2	ZNF606	19	58490664	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	534561	58490664	638319	204	36202											
JAG1	182	broad.mit.edu	37	chr20	10621878	10621878	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcaattcactgcaaatgtgCtccgtagtaagaccctaaaa	6	11	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:10621878C>T	ENST00000254958.5	-	24	3446	c.2931G>A	c.(2929-2931)gaG>gaA	p.E977E	JAG1_ENST00000423891.2_Silent_p.E818E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	977					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						TGCAAATGTGCTCCGTAGTAA	0.408									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2929-2931)gaG>gaA		jagged 1							83	83	83					20																	10621878		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10621878C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2931G>A	20.37:g.10621878C>T						JAG1_ENST00000423891.2_Silent_p.E818E	p.E977E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			24	3446	-			977					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2931G>A	CCDS13112.1																																																																																				0.408	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		40	281	0	0	0	1	0	40	281					T	10621878	C	T	10621878	2	4	108	1	0	0	0	0	0	0	0	1	7964	796	28	2		2	JAG1	20	10621878	Silent	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08		10621878	52403642	205	36203											
RBM12	10137	broad.mit.edu	37	chr20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaggtattcctgcactggGcattcccgcaccaggcagtc	10	14	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_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	693	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCTGCACTGGGCATTCCCGCA	0.557																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2077-2079)Ccc>Tcc		RNA binding motif protein 12							49	47	48					20																	34241168		2199	4292	6491	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34241168G>A	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.2077C>T	20.37:g.34241168G>A	ENSP00000363228:p.Pro693Ser					RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron	p.P693S	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	2340	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		693			Gly-rich.|Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.2077C>T	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		0.557	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		5	387	0	0	0	1	0	5	387					A	34241168	G	A	34241168	3	1	108	1	0	0	0	0	1	0	0	0	13163	1203	42	2	725	2	RBM12	20	34241168	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	23619290	34241168	28784352	206	36204											
EPB41L1	2036	broad.mit.edu	37	chr20	34773105	34773105	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgctcctttgtcacGcatgccctactgggctccta	8	16	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34773105G>A	ENST00000338074.2	+	7	794	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000441639.1_Silent_p.T149T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000373950.2_Silent_p.T114T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	211	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)					CCTTTGTCACGCATGCCCTAC	0.612																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(631-633)acG>acA		erythrocyte membrane protein band 4.1-like 1							75	67	70					20																	34773105		2203	4300	6503	SO:0001819	synonymous_variant	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34773105G>A	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.633G>A	20.37:g.34773105G>A						EPB41L1_ENST00000441639.1_Silent_p.T149T|EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000373941.1_Silent_p.T211T|EPB41L1_ENST00000373950.2_Silent_p.T114T	p.T211T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			7	794	+	Breast(12;0.0239)		211			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	ENST00000338074.2	37	c.633G>A	CCDS13271.1																																																																																				0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		5	422	0	0	0	1	0	5	422					A	34773105	G	A	34773105	2	1	108	1	0	0	0	0	0	0	0	1	5170	1074	38	1		1	EPB41L1	20	34773105	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	531937	34773105	28252415	207	36205											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	10	14	1	0	rs398123018		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:62324513C>T	ENST00000360203.5	+	30	3194	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000318100.4_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2869-2871)Cgg>Tgg		regulator of telomere elongation helicase 1							105	112	110					20																	62324513		2198	4293	6491	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324513C>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2869C>T	20.37:g.62324513C>T	ENSP00000353332:p.Arg957Trp					RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W	p.R957W			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		30	3696	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		957						Missense_Mutation	SNP	ENST00000360203.5	37	c.2869C>T		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130295	0.56721	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.33498	0.0865	M	0.71581	2.175	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.991;0.995	T	0.09596	-1.0667	10	0.87932	D	0	-22.5328	16.6576	0.85232	0.0:1.0:0.0:0.0	.	981;202;957;957	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	W	957;957;981;957;202	ENSP00000359035:R957W;ENSP00000322287:R957W;ENSP00000424307:R981W;ENSP00000353332:R957W;ENSP00000359020:R202W	ENSP00000353332:R957W	R	+	1	2	AL353715.1	61794957	0.995000	0.38212	0.946000	0.38457	0.033000	0.12548	3.313000	0.51935	2.220000	0.72140	0.289000	0.19496	CGG		0.597	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		6	835	0	0	0	1	0	6	835					T	62324513	C	T	62324513	3	4	108	1	0	0	0	0	1	0	0	0	13770	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	27551408	62324513	701007	208	36206											
TPTE	7179	broad.mit.edu	37	chr21	10970018	10970018	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttattgctcacctttctttcGcaggtgcctcctcggttgct	8	13	2	0	rs368032413		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:10970018G>A	ENST00000361285.4	-	6	439	c.110C>T	c.(109-111)gCg>gTg	p.A37V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	37					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)		CCTTTCTTTCGCAGGTGCCTC	0.413																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(109-111)gCg>gTg		transmembrane phosphatase with tensin homology		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	269	245	253		110,110,110	-1.5	0	21		253	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TPTE	NM_199261.2,NM_199260.2,NM_199259.2	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	37/552,37/514,37/534	10970018	1,13005	2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10970018G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.110C>T	21.37:g.10970018G>A	ENSP00000355208:p.Ala37Val					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V	p.A37V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	6	477	-			37					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.110C>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	G	3.609	-0.080010	0.07141	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95137	-3.43;-3.62;-3.51	0.725	-1.45	0.08828	.	0.367802	0.19873	U	0.104151	T	0.82135	0.4971	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18610	0.009;0.001;0.029	B;B;B	0.10450	0.003;0.0;0.005	T	0.70342	-0.4898	10	0.02654	T	1	.	4.7832	0.13213	0.0:0.0:0.5421:0.4579	.	37;37;37	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	37	ENSP00000298232:A37V;ENSP00000355208:A37V;ENSP00000344441:A37V	ENSP00000298232:A37V	A	-	2	0	TPTE	9991889	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.742000	0.01835	-1.132000	0.02907	0.194000	0.17425	GCG		0.413	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			13	704	0	0	0	1	0	13	704					A	10970018	G	A	10970018	3	1	108	1	0	0	0	0	1	0	0	0	16483	1087	38	1	1621	1	TPTE	21	10970018	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08		10970018	37159877	209	36207											
ERG	2078	broad.mit.edu	37	chr21	39755612	39755612	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaacttgtaggcgtagcGcttcccatggaccttggtca	12	11	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:39755612G>A	ENST00000417133.2	-	12	1359	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C|ERG_ENST00000442448.1_Missense_Mutation_p.R368C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C	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)	TAGGCGTAGCGCTTCCCATGG	0.572			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"M, E, L"	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"		"Ewing sarcoma, prostate, AML"	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(1102-1104)Cgc>Tgc		v-ets avian erythroblastosis virus E26 oncogene homolog							140	118	126					21																	39755612		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755612G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1174C>T	21.37:g.39755612G>A	ENSP00000414150:p.Arg392Cys					ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000417133.2_Missense_Mutation_p.R392C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C	p.R368C	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1373	-		Prostate(19;3.6e-06)	392					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1102C>T	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728867	0.89390	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	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	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.992;1.0;1.0;0.957	T	0.70905	-0.4745	10	0.87932	D	0	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	392;361;368;385	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	C	361;362;385;269;368;392;369;368;293;392	ENSP00000381877:R361C;ENSP00000381879:R362C;ENSP00000288319:R385C;ENSP00000381871:R269C;ENSP00000381882:R368C;ENSP00000414150:R392C;ENSP00000381881:R369C;ENSP00000394694:R368C;ENSP00000396268:R293C;ENSP00000381891:R392C	ENSP00000288319:R385C	R	-	1	0	ERG	38677482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	CGC		0.572	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		17	606	0	0	0	1	0	17	606					A	39755612	G	A	39755612	3	1	108	1	0	0	0	0	1	0	0	0	5240	1087	38	1	290	1	ERG	21	39755612	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	28785594	39755612	8374283	210	36208											
PCNT	5116	broad.mit.edu	37	chr21	47786815	47786815	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	attctttggaatcctgttacCtctctgaatttcagaccatc	5	11	3	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:47786815C>A	ENST00000359568.5	+	15	3033	c.2926C>A	c.(2926-2928)Ctc>Atc	p.L976I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	976					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)					ATCCTGTTACCTCTCTGAATT	0.537																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2926-2928)Ctc>Atc		pericentrin							84	92	89					21																	47786815		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47786815C>A	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.2926C>A	21.37:g.47786815C>A	ENSP00000352572:p.Leu976Ile					PCNT_ENST00000480896.1_3'UTR	p.L976I	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			15	3033	+	Breast(49;0.112)		976					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2926C>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280740	0.40294	.	.	ENSG00000160299	ENST00000359568	T	0.24908	1.83	5.36	3.45	0.39498	.	0.744958	0.10484	N	0.669220	T	0.40322	0.1112	M	0.64997	1.995	0.23700	N	0.99707	D;P	0.55800	0.973;0.954	P;P	0.53593	0.73;0.541	T	0.20840	-1.0263	10	0.36615	T	0.2	.	13.0171	0.58764	0.0:0.677:0.323:0.0	.	858;976	O95613-2;O95613	.;PCNT_HUMAN	I	976	ENSP00000352572:L976I	ENSP00000352572:L976I	L	+	1	0	PCNT	46611243	0.997000	0.39634	0.748000	0.31131	0.011000	0.07611	0.383000	0.20651	0.567000	0.29293	0.561000	0.74099	CTC		0.537	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	646	1	0	0.184627	1	0.185231	5	646					A	47786815	C	A	47786815	3	1	108	1	0	0	0	0	1	0	0	0	11632	681	24	3	2984	3	PCNT	21	47786815	Missense_Mutation	SNP	C	TCGA-RB-A7B8-01A-12D-A33T-08	8031203	47786815	343080	211	36209											
ZNF280B	140883	broad.mit.edu	37	chr22	22842836	22842836	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctgttccggctgcccTtctcctttatgctgtccata	7	14	3	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22842836T>A	ENST00000406426.1	-	4	1630	c.888A>T	c.(886-888)gaA>gaT	p.E296D	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E296D			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	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)			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)		CCGGCTGCCCTTCTCCTTTAT	0.388																																						ENST00000360412.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22						c.(886-888)gaA>gaT		zinc finger protein 280B							130	121	124					22																	22842836		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842836T>A	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.888A>T	22.37:g.22842836T>A	ENSP00000385998:p.Glu296Asp					ZNF280B_ENST00000406426.1_Missense_Mutation_p.E296D	p.E296D	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1663	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	296						Missense_Mutation	SNP	ENST00000406426.1	37	c.888A>T	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	0.519	-0.862982	0.02610	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.02737	4.18;4.18	4.43	0.414	0.16406	.	.	.	.	.	T	0.00936	0.0031	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	9	0.02654	T	1	-0.9308	4.0725	0.09889	0.534:0.0:0.3014:0.1646	.	296	Q86YH2	Z280B_HUMAN	D	296	ENSP00000385998:E296D;ENSP00000353586:E296D	ENSP00000353586:E296D	E	-	3	2	ZNF280B	21172836	0.038000	0.19896	0.055000	0.19348	0.896000	0.52359	0.181000	0.16880	-0.387000	0.07809	-1.030000	0.02411	GAA		0.388	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		6	628	0	0	0	1	0	6	628					A	22842836	T	A	22842836	3	1	108	1	0	0	0	0	1	0	0	0	17868	1606	56	5	747	5	ZNF280B	22	22842836	Missense_Mutation	SNP	T	TCGA-RB-A7B8-01A-12D-A33T-08		22842836	28461730	212	36210											
MN1	4330	broad.mit.edu	37	chr22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-													gctgctgctgctgctgctgtTgctgctgctgctgctgctgc					rs34890218|rs45480998|rs45597040	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"L, O"	ETV6		"AML, meningioma"		1	Substitution - coding silent(1)	p.Q532Q(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1594-1599)caa>ca		meningioma (disrupted in balanced translocation) 1				226,138,2110		41,6,138,37,58,957						-0.4	1		dbSNP_126	5	429,825,4222		34,24,337,178,445,1720	no	codingComplex	MN1	NM_002430.2		75,30,475,215,503,2677	A1A1,A1A2,A1R,A2A2,A2R,RR		22.8999,14.713,20.3522				655,963,6332				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194934_28194936delTGC	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598delGCA	22.37:g.28194943_28194945delTGC	ENSP00000304956:p.Gln550del						p.QQ548del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2550_2552	-			548			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1596_1598delGCA	CCDS42998.1																																																																																				0.65	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	78						7	78	---	---	---	---	-	28194936	TGC	-	28194934	7	5	108	1	0	1	0	1	0	0	0	0	9714	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-RB-A7B8-01A-12D-A33T-08	5352098	28194934	23109632	213	36211											
ZNRF3	84133	broad.mit.edu	37	chr22	29439358	29439358	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggtgcagatgccattaagctGatgaacatcgtcaacaagca	10	9	1	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29439358G>A	ENST00000544604.2	+	4	748	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L|ZNRF3_ENST00000332811.4_Silent_p.L91L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	191					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						CCATTAAGCTGATGAACATCG	0.562																																						ENST00000544604.2																			0				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						c.(571-573)ctG>ctA		zinc and ring finger 3							98	106	103					22																	29439358		2032	4186	6218	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29439358G>A	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.573G>A	22.37:g.29439358G>A						ZNRF3_ENST00000332811.4_Silent_p.L91L|ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L	p.L191L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			4	748	+			191					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.573G>A	CCDS56225.1																																																																																				0.562	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		6	428	0	0	0	1	0	6	428					A	29439358	G	A	29439358	2	1	108	1	0	0	0	0	0	0	0	1	18266	1277	45	2		2	ZNRF3	22	29439358	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	1244424	29439358	21865208	214	36212											
SLC5A1	6523	broad.mit.edu	37	chr22	32481008	32481008	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgccaggaatgatcagccGcattctgtacacaggtaata	10	9	2	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:32481008G>A	ENST00000266088.4	+	9	1257	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)	p.R336H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	ATGATCAGCCGCATTCTGTAC	0.483																																						ENST00000266088.4																			1	Substitution - Missense(1)	p.R336H(1)	prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1006-1008)cGc>cAc		solute carrier family 5 (sodium/glucose cotransporter), member 1							181	153	162					22																	32481008		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32481008G>A		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1007G>A	22.37:g.32481008G>A	ENSP00000266088:p.Arg336His					SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	p.R336H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			9	1257	+			336					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.1007G>A	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907312	0.72868	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89123	-2.47;-2.47	4.92	2.8	0.32819	.	0.051673	0.85682	N	0.000000	D	0.95370	0.8497	H	0.95574	3.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94570	0.7770	10	0.87932	D	0	.	9.6601	0.39950	0.078:0.142:0.78:0.0	.	336	P13866	SC5A1_HUMAN	H	336;209	ENSP00000266088:R336H;ENSP00000444898:R209H	ENSP00000266088:R336H	R	+	2	0	SLC5A1	30811008	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	9.582000	0.98214	0.589000	0.29677	-0.229000	0.12294	CGC		0.483	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		7	849	0	0	0	1	0	7	849					A	32481008	G	A	32481008	3	1	108	1	0	0	0	0	1	0	0	0	14711	1087	38	1	1041	1	SLC5A1	22	32481008	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	3041650	32481008	18823558	215	36213											
CACNG2	10369	broad.mit.edu	37	chr22	36960745	36960745	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtggcgcgggccgtggcccGcagctgtttgtgccggtcga	18	13	0	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:36960745G>A	ENST00000300105.6	-	4	1606	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	209					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						GCCGTGGCCCGCAGCTGTTTG	0.667																																						ENST00000300105.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(625-627)Cgg>Tgg		calcium channel, voltage-dependent, gamma subunit 2							86	102	96					22																	36960745		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36960745G>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.625C>T	22.37:g.36960745G>A	ENSP00000300105:p.Arg209Trp						p.R209W	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN			4	1606	-			209					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.625C>T	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119367	0.77323	.	.	ENSG00000166862	ENST00000300105	T	0.40756	1.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66590	-0.5885	10	0.66056	D	0.02	-7.8981	14.4754	0.67541	0.0:0.0:0.8529:0.1471	.	209	Q9Y698	CCG2_HUMAN	W	209	ENSP00000300105:R209W	ENSP00000300105:R209W	R	-	1	2	CACNG2	35290691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.656000	0.90262	0.655000	0.94253	CGG		0.667	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			68	1378	0	0	0	1	0	68	1378					A	36960745	G	A	36960745	3	1	108	1	0	0	0	0	1	0	0	0	2564	1086	38	1	350	1	CACNG2	22	36960745	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	4479737	36960745	14343821	216	36214											
SSTR3	6753	broad.mit.edu	37	chr22	37602773	37602775	+	In_Frame_Del	DEL	TCC	TCC	-													cctccctgctctcctccccaTcctcctcctcctcatcctcc					rs4988470	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:37602773_37602775delTCC	ENST00000328544.3	-	2	1601_1603	c.1068_1070delGGA	c.(1066-1071)gaggat>gat	p.E356del	SSTR3_ENST00000402501.1_In_Frame_Del_p.E356del	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	356	Glu-rich (acidic).				cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	ctcctccccatcctcctcctcct	0.714																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(1066-1071)gat>ga		somatostatin receptor 3																																				SO:0001651	inframe_deletion	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602773_37602775delTCC		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1068_1070delGGA	22.37:g.37602782_37602784delTCC	ENSP00000330138:p.Glu356del					SSTR3_ENST00000402501.1_In_Frame_Del_p.ED356del	p.ED356del	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1601_1603	-			356			Glu-rich (acidic).		A8K550|Q53ZR7	In_Frame_Del	DEL	ENST00000328544.3	37	c.1068_1070delGGA	CCDS13944.1																																																																																				0.714	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			7	315						7	315	---	---	---	---	-	37602775	TCC	-	37602773	7	5	108	1	0	1	0	1	0	0	0	0	15251	1435	50	0	190	0	SSTR3	22	37602773	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	642028	37602773	13701793	217	36215											
VCX	26609	broad.mit.edu	37	chrX	7811799	7811799	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggagagcgaggtggaAgaaccactgagtcaggagag	17	6	2	4	rs138805744		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:7811799A>G	ENST00000381059.3	+	3	582	c.363A>G	c.(361-363)gaA>gaG	p.E121E	VCX_ENST00000341408.4_Intron	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	121	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GCGAGGTGGAAGAACCACTGA	0.627																																						ENST00000381059.3																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(361-363)gaA>gaG		variable charge, X-linked							42	54	50					X																	7811799		2127	4087	6214	SO:0001819	synonymous_variant	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811799A>G	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"variable charge, X chromosome"			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.363A>G	X.37:g.7811799A>G						VCX_ENST00000341408.4_Intron	p.E121E	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN			3	582	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	121			10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.		A0JNS5|Q4V774|Q9P0H3	Silent	SNP	ENST00000381059.3	37	c.363A>G	CCDS14128.1																																																																																				0.627	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1	NM_013452		5	975	0	0	0	1	0	5	975					G	7811799	A	G	7811799	2	3	108	1	0	0	0	0	0	0	0	1	17196	69	3	4		4	VCX	23	7811799	Silent	SNP	A	TCGA-RB-A7B8-01A-12D-A33T-08		7811799	147458761	218	36216											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					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						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	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.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		10	446						10	446	---	---	---	---	-	54578341	GAA	-	54578339	7	5	108	1	0	1	0	1	0	0	0	0	6567	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-RB-A7B8-01A-12D-A33T-08	46766540	54578339	100692221	219	36217											
MED12	9968	broad.mit.edu	37	chrX	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcagcaacagcaaCagcagcagcagcagcagcag							TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:70360648_70360650delCAG	ENST00000374080.3	+	42	6240_6242	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				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)					gcaacagcaacagcagcagcagc	0.621			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6217-6219)del		mediator complex subunit 12				7,109,3423		0,0,6,1,1,78,29,1439,461						2.6	0.4			23	29,192,5891		2,0,16,9,2,98,90,2148,1481	no	codingComplex	MED12	NM_005120.2		2,0,22,10,3,176,119,3587,1942	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		3.6158,3.2778,3.4919				36,301,9314				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360648_70360650delCAG	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.6208_6210delCAG	X.37:g.70360657_70360659delCAG	ENSP00000363193:p.Gln2076del					MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000478889.1_3'UTR	p.Q2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6416_6418	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6217_6219delCAG	CCDS43970.1																																																																																				0.621	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	357						7	357	---	---	---	---	-	70360650	CAG	-	70360648	7	5	108	1	0	1	0	1	0	0	0	0	9469	479	17	0	6374	0	MED12	23	70360648	In_Frame_Del	DEL	CAG	TCGA-RB-A7B8-01A-12D-A33T-08	15782309	70360648	84909912	220	36218											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-													ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc					rs369450592		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		21	270						21	270	---	---	---	---	-	72433666	TCC	-	72433664	7	5	108	1	0	1	0	1	0	0	0	0	10198	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	2073016	72433664	82836896	221	36219											
ATRX	546	broad.mit.edu	37	chrX	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-													tttcatcttcctcctcctctTcctcctcctcctcctcttcc					rs398123423|rs587780286		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				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						ctcctcctcttcctcctcctcct	0.389			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	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.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	545						9	545	---	---	---	---	-	76907784	TCC	-	76907782	7	5	108	1	0	1	0	1	0	0	0	0	1209	1783	62	0	3183	0	ATRX	23	76907782	In_Frame_Del	DEL	TCC	TCGA-RB-A7B8-01A-12D-A33T-08	4474118	76907782	78362778	222	36220											
PCDH11X	27328	broad.mit.edu	37	chrX	91090851	91090851	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggttgccattttgccGgatgaaatatttagactggt	13	5	0	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:91090851G>A	ENST00000373094.1	+	1	1193	c.348G>A	c.(346-348)ccG>ccA	p.P116P	PCDH11X_ENST00000361724.1_Silent_p.P116P|PCDH11X_ENST00000361655.2_Silent_p.P116P|PCDH11X_ENST00000298274.8_Silent_p.P116P|PCDH11X_ENST00000373088.1_Silent_p.P116P|PCDH11X_ENST00000395337.2_Silent_p.P116P|PCDH11X_ENST00000373097.1_Silent_p.P116P|PCDH11X_ENST00000504220.2_Silent_p.P116P|PCDH11X_ENST00000406881.1_Silent_p.P116P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCATTTTGCCGGATGAAATAT	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(346-348)ccG>ccA		protocadherin 11 X-linked							75	69	71					X																	91090851		2202	4281	6483	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090851G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.348G>A	X.37:g.91090851G>A						PCDH11X_ENST00000373097.1_Silent_p.P116P|PCDH11X_ENST00000395337.2_Silent_p.P116P|PCDH11X_ENST00000373088.1_Silent_p.P116P|PCDH11X_ENST00000406881.1_Silent_p.P116P|PCDH11X_ENST00000361655.2_Silent_p.P116P|PCDH11X_ENST00000504220.1_Silent_p.P116P|PCDH11X_ENST00000361724.1_Silent_p.P116P|PCDH11X_ENST00000298274.8_Silent_p.P116P	p.P116P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	1193	+			116			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.348G>A	CCDS14461.1																																																																																				0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		5	556	0	0	0	1	0	5	556					A	91090851	G	A	91090851	2	1	108	1	0	0	0	0	0	0	0	1	11550	1103	39	1		1	PCDH11X	23	91090851	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	14183069	91090851	64179709	223	36221											
ARMCX3	51566	broad.mit.edu	37	chrX	100880318	100880318	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccccaattcagatgataccGttttgtcccctcaagagcta	6	14	2	3			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:100880318G>A	ENST00000341189.4	+	5	1215	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I|ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	117					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGATGATACCGTTTTGTCCCC	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(349-351)Gtt>Att		armadillo repeat containing, X-linked 3							66	58	61					X																	100880318		2200	4295	6495	SO:0001583	missense	51566					integral to membrane	binding	g.chrX:100880318G>A	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.349G>A	X.37:g.100880318G>A	ENSP00000340672:p.Val117Ile					ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I|ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I	p.V117I	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1215	+			117					Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	ENST00000341189.4	37	c.349G>A	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.915094	0.00503	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.28895	1.59;1.59	4.08	-5.45	0.02616	Armadillo-like helical (1);	0.708561	0.13313	N	0.397312	T	0.09113	0.0225	N	0.01640	-0.785	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.35748	-0.9776	9	.	.	.	-2.6702	12.8785	0.58003	0.2698:0.0:0.7302:0.0	.	117	Q9UH62	ARMX3_HUMAN	I	117	ENSP00000340672:V117I;ENSP00000439032:V117I	.	V	+	1	0	ARMCX3	100766974	0.031000	0.19500	0.318000	0.25279	0.907000	0.53573	-0.504000	0.06375	-1.484000	0.01856	-2.493000	0.00193	GTT		0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		40	462	0	0	0	1	0	40	462					A	100880318	G	A	100880318	3	1	108	1	0	0	0	0	1	0	0	0	962	1145	40	1	351	1	ARMCX3	23	100880318	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	9789467	100880318	54390242	224	36222											
CXorf56	63932	broad.mit.edu	37	chrX	118699217	118699217	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcactaggaccatctggccGcacaaacagtagtaaacatg	9	11	1	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000536133.1_Silent_p.C34C|CXorf56_ENST00000320339.4_5'UTR	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	34										cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577																																						ENST00000371594.4																			0				cervix(1)|endometrium(2)|lung(7)	10						c.(100-102)tgC>tgT		chromosome X open reading frame 56							78	75	76					X																	118699217		2203	4300	6503	SO:0001819	synonymous_variant	63932						protein binding	g.chrX:118699217G>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.102C>T	X.37:g.118699217G>A						CXorf56_ENST00000486230.1_Silent_p.C34C|CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000476164.1_Silent_p.C34C|CXorf56_ENST00000536133.1_Silent_p.C34C	p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN			1	180	-			34					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	ENST00000371594.4	37	c.102C>T	CCDS14579.1																																																																																				0.577	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		6	647	0	0	0	1	0	6	647					A	118699217	G	A	118699217	2	1	108	1	0	0	0	0	0	0	0	1	4123	1079	38	1		1	CXorf56	23	118699217	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	17818899	118699217	36571343	225	36223											
IGSF1	3547	broad.mit.edu	37	chrX	130411143	130411143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcaattgaaagtcactcggGcaccaggggtgaccacaggg	14	10	1	2			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:130411143G>A	ENST00000361420.3	-	14	2457	c.2378C>T	c.(2377-2379)gCc>gTc	p.A793V	IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000370904.1_Missense_Mutation_p.A784V|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	793	Ig-like C2-type 8.				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						AGTCACTCGGGCACCAGGGGT	0.448																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2350-2352)gCc>gTc		immunoglobulin superfamily, member 1							66	74	71					X																	130411143		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411143G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2378C>T	X.37:g.130411143G>A	ENSP00000355010:p.Ala793Val					IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A793V|IGSF1_ENST00000467244.1_5'UTR	p.A784V			Q8N6C5	IGSF1_HUMAN			20	3261	-			793			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2351C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674954	0.47781	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.39	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.736301	0.11696	N	0.538458	T	0.07279	0.0184	N	0.08118	0	0.20873	N	0.99984	B;B;B	0.26318	0.001;0.146;0.09	B;B;B	0.32289	0.019;0.143;0.089	T	0.36720	-0.9736	10	0.62326	D	0.03	.	9.5806	0.39486	0.0:0.0:0.6207:0.3793	.	784;237;793	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	784;793;784;798	ENSP00000359947:A784V;ENSP00000355010:A793V;ENSP00000359941:A784V;ENSP00000359940:A798V	ENSP00000355010:A793V	A	-	2	0	IGSF1	130238824	0.790000	0.28787	1.000000	0.80357	0.962000	0.63368	1.033000	0.30191	1.156000	0.42514	-0.222000	0.12452	GCC		0.448	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			7	889	0	0	0	1	0	7	889					A	130411143	G	A	130411143	3	1	108	1	0	0	0	0	1	0	0	0	7626	1203	42	2	1660	2	IGSF1	23	130411143	Missense_Mutation	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	11711926	130411143	24859417	226	36224											
GPC3	2719	broad.mit.edu	37	chrX	132730547	132730547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcatcttcatcatcaccGcagtctccactttcaaaccc	2	18	7	0			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000543339.1_Silent_p.C444C|GPC3_ENST00000394299.2_Silent_p.C521C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	498					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCATCACCGCAGTCTCCAC	0.463			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(1492-1494)tgC>tgT		glypican 3							243	206	218					X																	132730547		2203	4300	6503	SO:0001819	synonymous_variant	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132730547G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1494C>T	X.37:g.132730547G>A						GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C	p.C498C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			7	1939	-	Acute lymphoblastic leukemia(192;0.000127)		498					C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	c.1494C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	2.995	-0.207259	0.06180	.	.	ENSG00000147257	ENST00000406757	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.72803	0.3506	.	.	.	0.48040	D	0.999576	.	.	.	.	.	.	T	0.82566	-0.0393	4	.	.	.	.	22.4363	0.99971	0.2327:0.0:0.7673:0.0	.	.	.	.	V	228	.	.	A	-	2	0	GPC3	132558213	0.000000	0.05858	0.008000	0.14137	0.665000	0.39181	-3.320000	0.00513	-3.839000	0.00100	-1.679000	0.00737	GCG		0.463	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		6	853	0	0	0	1	0	6	853					A	132730547	G	A	132730547	2	1	108	1	0	0	0	0	0	0	0	1	6628	1079	38	1		1	GPC3	23	132730547	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	2319404	132730547	22540013	227	36225											
MAGEC2	51438	broad.mit.edu	37	chrX	141291654	141291654	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tacaaagtggaagaggcggaGgaggcttcctcctcttcctc	12	11	1	1			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:141291654G>T	ENST00000247452.3	-	3	467	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	40	Ser-rich.				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)					AAGAGGCGGAGGAGGCTTCCT	0.522										HNSCC(46;0.14)																												ENST00000247452.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(118-120)tcC>tcA		melanoma antigen family C, 2							118	117	117					X																	141291654		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291654G>T	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.120C>A	X.37:g.141291654G>T		HNSCC(46;0.14)					p.S40S	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	467	-	Acute lymphoblastic leukemia(192;6.56e-05)		40			Ser-rich.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.120C>A	CCDS14678.1																																																																																				0.522	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		53	793	1	0	2.47907e-22	1	2.64262e-22	53	793					T	141291654	G	T	141291654	2	4	108	1	0	0	0	0	0	0	0	1	9222	987	35	3		3	MAGEC2	23	141291654	Silent	SNP	G	TCGA-RB-A7B8-01A-12D-A33T-08	8561107	141291654	13978906	228	36226											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		8	316						8	316	---	---	---	---	-	6680071	GAA	-	6680069	7	5	109	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-RB-AA9M-01A-11D-A397-08		6680069	242570552	1	36227											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		11	314						11	314	---	---	---	---	-	46184898	AC	-	46184897	7	5	109	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-RB-AA9M-01A-11D-A397-08	39504828	46184897	203065724	2	36228											
NRD1	4898	broad.mit.edu	37	chr1	52290962	52290962	+	Frame_Shift_Del	DEL	A	A	-													tgtatttagtatcttaccccAaaaaaattttcccataggat							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:52290962delA	ENST00000354831.7	-	8	1426	c.1237delT	c.(1237-1239)tggfs	p.W413fs	NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	344					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						ATCTTACCCCAAAAAAATTTT	0.318																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(1237-1239)ggfs		nardilysin (N-arginine dibasic convertase)							53	55	54					1																	52290962		2203	4300	6503	SO:0001589	frameshift_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52290962delA	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.1237delT	1.37:g.52290962delA	ENSP00000346890:p.Trp413fs					NRD1_ENST00000544028.1_Frame_Shift_Del_p.W213fs|NRD1_ENST00000539524.1_Frame_Shift_Del_p.W281fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Frame_Shift_Del_p.W345fs	p.W413fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			8	1426	-			344					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Del	DEL	ENST00000354831.7	37	c.1237delT	CCDS559.1																																																																																				0.318	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		9	1003						9	1003	---	---	---	---	-	52290962	A	-	52290962	7	5	109	1	0	1	0	1	0	0	0	0	10687	130	5	0	2526	0	NRD1	1	52290962	Frame_Shift_Del	DEL	A	TCGA-RB-AA9M-01A-11D-A397-08	6106065	52290962	196959659	3	36229											
PRKACB	5567	broad.mit.edu	37	chr1	84668430	84668430	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaaatggcagctggctAtcccccattctttgcagacc	8	13	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:84668430A>G	ENST00000370689.2	+	8	971	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	PRKACB_ENST00000370685.3_Missense_Mutation_p.Y283C|PRKACB_ENST00000370680.1_Missense_Mutation_p.Y242C|PRKACB_ENST00000370682.3_Missense_Mutation_p.Y240C|PRKACB_ENST00000394838.2_Missense_Mutation_p.Y243C|PRKACB_ENST00000394839.2_Missense_Mutation_p.Y206C|PRKACB_ENST00000370688.3_Missense_Mutation_p.Y236C	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|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)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GCAGCTGGCTATCCCCCATTC	0.368																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(706-708)tAt>tGt		protein kinase, cAMP-dependent, catalytic, beta							141	137	138					1																	84668430		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84668430A>G	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.707A>G	1.37:g.84668430A>G	ENSP00000359723:p.Tyr236Cys					PRKACB_ENST00000370685.3_Missense_Mutation_p.Y283C|PRKACB_ENST00000370682.3_Missense_Mutation_p.Y240C|PRKACB_ENST00000394838.2_Missense_Mutation_p.Y243C|PRKACB_ENST00000370680.1_Missense_Mutation_p.Y242C|PRKACB_ENST00000394839.2_Missense_Mutation_p.Y206C|PRKACB_ENST00000370688.3_Missense_Mutation_p.Y236C	p.Y236C	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	8	971	+			236			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.707A>G	CCDS691.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558215	0.86231	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000370680;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.54	5.54	0.83059	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	0.61677	0.2366	N	0.21545	0.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.996;0.991;0.999;0.995;0.999;0.994;1.0;0.99	D;D;D;D;P;D;D;D;D;D;D	0.91635	0.999;0.957;0.972;0.972;0.886;0.953;0.953;0.953;0.972;0.999;0.933	T	0.69767	-0.5056	10	0.87932	D	0	-9.6973	15.9801	0.80102	1.0:0.0:0.0:0.0	.	236;224;243;242;206;242;240;283;283;236;236	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	C	236;236;283;224;243;240;242;242;206;198	ENSP00000359723:Y236C;ENSP00000359722:Y236C;ENSP00000359719:Y283C;ENSP00000359718:Y224C;ENSP00000378314:Y243C;ENSP00000359716:Y240C;ENSP00000359714:Y242C;ENSP00000378315:Y206C	ENSP00000359713:Y242C	Y	+	2	0	PRKACB	84441018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.229000	0.95273	2.230000	0.72887	0.528000	0.53228	TAT		0.368	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		36	484	0	0	0	1	0	36	484					G	84668430	A	G	84668430	3	3	109	1	0	0	0	0	1	0	0	0	12545	449	16	4	928	4	PRKACB	1	84668430	Missense_Mutation	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08	32377468	84668430	164582191	4	36230											
HIAT1	64645	broad.mit.edu	37	chr1	100534121	100534122	+	Frame_Shift_Ins	INS	-	-	T													aggcaggccaatattccagcINSttttttttatacctcagaca							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:100534121_100534122insT	ENST00000370152.3	+	7	934_935	c.798_799insT	c.(799-801)tttfs	p.F267fs	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	267					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AATATTCCAGCTTTTTTTTATA	0.386																																						ENST00000370152.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(796-801)agttttfs		hippocampus abundant transcript 1																																				SO:0001589	frameshift_variant	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100534121_100534122insT	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.806dupT	1.37:g.100534129_100534129dupT	ENSP00000359171:p.Phe267fs					RP4-714D9.2_ENST00000432294.1_RNA	p.SF266fs	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	934_935	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	266					Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Frame_Shift_Ins	INS	ENST00000370152.3	37	c.798_799insT	CCDS763.1																																																																																				0.386	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	NM_033055		8	523						8	523	---	---	---	---	T	100534122	-	T	100534121	7	5	109	1	0	1	1	0	0	0	0	0	7127	796	28	0	824	0	HIAT1	1	100534121	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	15865691	100534121	148716500	5	36231											
EPS8L3	79574	broad.mit.edu	37	chr1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T													actcacctccctggtccttgINSttttttttcccaaatttctt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:110300579_110300580insT	ENST00000361965.4	-	9	924_925	c.818_819insA	c.(817-819)aacfs	p.N273fs	EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.N273fs|EPS8L3_ENST00000369805.3_Frame_Shift_Ins_p.N274fs|EPS8L3_ENST00000494151.1_5'Flank|RP4-735C1.4_ENST00000431955.1_RNA	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																																						ENST00000369805.3																			2	Deletion - Frameshift(2)	p.N274fs*33(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32						c.(820-822)aaafs		EPS8-like 3			,,	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	79574					cytoplasm	protein binding	g.chr1:110300579_110300580insT	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					EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	p.K274fs	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN		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)	9	1050_1051	-		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)	273					A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Frame_Shift_Ins	INS	ENST00000361965.4	37	c.821_822insA	CCDS814.1																																																																																				0.545	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		11	553						11	553	---	---	---	---	T	110300580	-	T	110300579	7	5	109	1	0	1	1	0	0	0	0	0	5215	1368	48	0	1006	0	EPS8L3	1	110300579	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	9766458	110300579	138950042	6	36232											
RPTN	126638	broad.mit.edu	37	chr1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cataatgatagctctggcctTgtctgtctgtctgaccgtag							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1690-1695)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.RQ564fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1755_1758	-			564			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		12	2427						12	2427	---	---	---	---	-	152127884	TGTC	-	152127881	7	5	109	1	0	1	0	1	0	0	0	0	13714	1812	63	0	664	0	RPTN	1	152127881	Frame_Shift_Del	DEL	TGTC	TCGA-RB-AA9M-01A-11D-A397-08	41827302	152127881	97122740	7	36233											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	7	10	5	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76	70	72					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5215	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 37C, member 1"	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		6	290	0	0	0	1	0	6	290					A	162769603	G	A	162769603	3	1	109	1	0	0	0	0	1	0	0	0	7418	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	10641722	162769603	86481018	8	36234											
CACNA1S	779	broad.mit.edu	37	chr1	201029886	201029886	+	Frame_Shift_Del	DEL	T	T	-													acacctggtactggtatgggTttttgggaatgtagcacctc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:201029886delT	ENST00000362061.3	-	26	3540	c.3314delA	c.(3313-3315)aacfs	p.N1105fs	CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.N1105fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1105					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)	CTGGTATGGGTTTTTGGGAAT	0.532																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3313-3315)acfs		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						291	281	284					1																	201029886		2203	4300	6503	SO:0001589	frameshift_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029886delT	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.3314delA	1.37:g.201029886delT	ENSP00000355192:p.Asn1105fs					CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.N1105fs	p.N1105fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			26	3540	-			1105					A4IF51|B1ALM2|Q12896|Q13934	Frame_Shift_Del	DEL	ENST00000362061.3	37	c.3314delA	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		7	1431						7	1431	---	---	---	---	-	201029886	T	-	201029886	7	5	109	1	0	1	0	1	0	0	0	0	2554	1725	60	0	2383	0	CACNA1S	1	201029886	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	38260283	201029886	48220735	9	36235											
KDM5B	10765	broad.mit.edu	37	chr1	202699041	202699041	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcttctttttgggggtccGcattttcttaactcgttccc	7	11	3	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:202699041G>A	ENST00000367265.3	-	26	5455	c.4291C>T	c.(4291-4293)Cgg>Tgg	p.R1431W	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1431					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						TTGGGGGTCCGCATTTTCTTA	0.463																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(4291-4293)Cgg>Tgg		lysine (K)-specific demethylase 5B							174	167	169					1																	202699041		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202699041G>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4291C>T	1.37:g.202699041G>A	ENSP00000356234:p.Arg1431Trp					KDM5B_ENST00000367264.2_Missense_Mutation_p.R1467W	p.R1431W	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			26	5455	-			1431					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.4291C>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458653	0.26248	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.86097	-1.95;-1.76;-2.07	5.23	3.33	0.38152	.	0.620786	0.16055	N	0.231797	T	0.78616	0.4311	L	0.44542	1.39	0.34647	D	0.721256	B;B	0.13594	0.008;0.008	B;B	0.08055	0.002;0.003	T	0.76735	-0.2850	10	0.87932	D	0	-11.5036	7.8135	0.29245	0.0786:0.0:0.6182:0.3031	.	1467;1431	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	W	1431;1273;1467;1273	ENSP00000356234:R1431W;ENSP00000356233:R1467W;ENSP00000235790:R1273W	ENSP00000235790:R1273W	R	-	1	2	KDM5B	200965664	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	0.965000	0.29319	0.572000	0.29383	0.650000	0.86243	CGG		0.463	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		6	869	0	0	0	1	0	6	869					A	202699041	G	A	202699041	3	1	109	1	0	0	0	0	1	0	0	0	8164	1086	38	1	351	1	KDM5B	1	202699041	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	1669155	202699041	46551580	10	36236											
PARP1	142	broad.mit.edu	37	chr1	226567647	226567647	+	Frame_Shift_Del	DEL	T	T	-													ctccttgacctggcccttgcTttttttggagagcgcagccc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:226567647delT	ENST00000366794.5	-	10	1662	c.1519delA	c.(1519-1521)agcfs	p.S507fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	507	Automodification domain.				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)		TGGCCCTTGCTTTTTTTGGAG	0.607								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1519-1521)gcfs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							89	98	95					1																	226567647		2203	4300	6503	SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567647delT	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.1519delA	1.37:g.226567647delT	ENSP00000355759:p.Ser507fs						p.S507fs	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1662	-	Breast(184;0.133)		507			Automodification domain.		B1ANJ4|Q8IUZ9	Frame_Shift_Del	DEL	ENST00000366794.5	37	c.1519delA	CCDS1554.1																																																																																				0.607	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		10	804						10	804	---	---	---	---	-	226567647	T	-	226567647	7	5	109	1	0	1	0	1	0	0	0	0	11496	1609	56	0	1581	0	PARP1	1	226567647	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	23868606	226567647	22682974	11	36237											
ADSS	159	broad.mit.edu	37	chr1	244595877	244595877	+	Frame_Shift_Del	DEL	T	T	-													tctgtcagatataataagccTtttttcccagccttctagtc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:244595877delT	ENST00000366535.3	-	4	692	c.376delA	c.(376-378)aggfs	p.R126fs		NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			ATAATAAGCCTTTTTTCCCAG	0.249																																						ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(376-378)ggfs		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						60	68	65					1																	244595877		2198	4276	6474	SO:0001589	frameshift_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244595877delT	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.376delA	1.37:g.244595877delT	ENSP00000355493:p.Arg126fs						p.R126fs	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		4	692	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	126						Frame_Shift_Del	DEL	ENST00000366535.3	37	c.376delA	CCDS1624.1																																																																																				0.249	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		7	729						7	729	---	---	---	---	-	244595877	T	-	244595877	7	5	109	1	0	1	0	1	0	0	0	0	347	1608	56	0	1034	0	ADSS	1	244595877	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	18028230	244595877	4654744	12	36238											
C2orf44	80304	broad.mit.edu	37	chr2	24262247	24262247	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacctctccactgtgaagccGcaaatcagttaggacaactt	8	12	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:24262247G>A	ENST00000295148.4	-	2	175	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGAAGCCGCAAATCAGTT	0.507			T	ALK	NSCLC																																	ENST00000295148.4				Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(118-120)Cgg>Tgg		chromosome 2 open reading frame 44							119	105	110					2																	24262247		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262247G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.118C>T	2.37:g.24262247G>A	ENSP00000295148:p.Arg40Trp					C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN			2	175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		40					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.118C>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874935	0.17395	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.43688	3.4;3.4;0.94	5.24	3.37	0.38596	.	0.488094	0.24352	N	0.039266	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.61;0.924	B;B	0.40782	0.275;0.34	T	0.05209	-1.0899	10	0.39692	T	0.17	2.1853	7.5072	0.27551	0.1561:0.0:0.7084:0.1355	.	40;40	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	W	40	ENSP00000295148:R40W;ENSP00000385816:R40W;ENSP00000413426:R40W	ENSP00000295148:R40W	R	-	1	2	C2orf44	24115751	0.973000	0.33851	0.336000	0.25522	0.420000	0.31355	1.353000	0.34045	0.660000	0.30964	0.655000	0.94253	CGG		0.507	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	NM_025203		5	397	0	0	0	1	0	5	397					A	24262247	G	A	24262247	3	1	109	1	0	0	0	0	1	0	0	0	2175	1086	38	1	2059	1	C2orf44	2	24262247	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		24262247	218937126	13	36239											
SOS1	6654	broad.mit.edu	37	chr2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-													gaaggcattgccatggtcacTttttttgcccaaagggggag							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					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)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75						c.(3724-3726)gtfs		son of sevenless homolog 1 (Drosophila)							134	134	134					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39213243delT	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.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs					SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs	p.S1242fs			Q07889	SOS1_HUMAN			24	3810	-		all_hematologic(82;0.21)	1242					A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	c.3724delA	CCDS1802.1																																																																																				0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		7	387						7	387	---	---	---	---	-	39213243	T	-	39213243	7	5	109	1	0	1	0	1	0	0	0	0	14986	1609	56	0	281	0	SOS1	2	39213243	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	14950996	39213243	203986130	14	36240											
SOCS5	9655	broad.mit.edu	37	chr2	46986955	46986955	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caacagatccctgcatgcccGaattgagcagtggaatcaca	9	12	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:46986955G>A	ENST00000306503.5	+	2	1458	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	429	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.R429L(1)|p.R429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGCATGCCCGAATTGAGCAG	0.498																																						ENST00000306503.5																			2	Substitution - Missense(2)	p.R429L(1)|p.R429Q(1)	ovary(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1285-1287)cGa>cAa		suppressor of cytokine signaling 5							103	101	102					2																	46986955		2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986955G>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1286G>A	2.37:g.46986955G>A	ENSP00000305133:p.Arg429Gln					SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q	p.R429Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1458	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	429			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1286G>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060002	0.55325	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89270	-2.49;-2.49	5.43	3.64	0.41730	SH2 motif (4);	0.056973	0.64402	D	0.000001	D	0.93916	0.8053	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93888	0.7177	10	0.87932	D	0	-11.2549	11.8239	0.52256	0.1425:0.0:0.8575:0.0	.	429	O75159	SOCS5_HUMAN	Q	429	ENSP00000305133:R429Q;ENSP00000378330:R429Q	ENSP00000305133:R429Q	R	+	2	0	SOCS5	46840459	1.000000	0.71417	0.715000	0.30552	0.898000	0.52572	9.657000	0.98554	0.867000	0.35654	-0.136000	0.14681	CGA		0.498	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			14	747	0	0	0	1	0	14	747					A	46986955	G	A	46986955	3	1	109	1	0	0	0	0	1	0	0	0	14967	1058	37	1	1288	1	SOCS5	2	46986955	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	7773712	46986955	196212418	15	36241											
TSPYL6	388951	broad.mit.edu	37	chr2	54482353	54482353	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaggatctgacctcataCacctttacaatcagcttgtt	6	12	3	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:54482353C>A	ENST00000317802.7	-	1	1056	c.936G>T	c.(934-936)gtG>gtT	p.V312V	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	312					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGACCTCATACACCTTTACAA	0.473																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(934-936)gtG>gtT		TSPY-like 6							91	90	90					2																	54482353		2074	4244	6318	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54482353C>A	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.936G>T	2.37:g.54482353C>A						ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron	p.V312V	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	1056	-			312					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.936G>T	CCDS42682.1																																																																																				0.473	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		5	605	1	0	0.014758	1	0.0148448	5	605					A	54482353	C	A	54482353	2	1	109	1	0	0	0	0	0	0	0	1	16716	465	17	3		3	TSPYL6	2	54482353	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	7495398	54482353	188717020	16	36242											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.64	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			8	296						8	296	---	---	---	---	-	63283261	CCA	-	63283259	7	5	109	1	0	1	0	1	0	0	0	0	11362	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-RB-AA9M-01A-11D-A397-08	8800906	63283259	179916114	17	36243											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		11	772						11	772	---	---	---	---	-	64778674	GAT	-	64778672	7	5	109	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-RB-AA9M-01A-11D-A397-08	1495413	64778672	178420701	18	36244											
GPAT2	150763	broad.mit.edu	37	chr2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcgagctttgggtccGcacactctggaaagaagaga	14	8	1	3			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					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						CTTTGGGTCCGCACACTCTGG	0.557																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2221-2223)gCg>gTg		glycerol-3-phosphate acyltransferase 2, mitochondrial							127	130	129					2																	96688465		1940	4129	6069	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688465G>A	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.2222C>T	2.37:g.96688465G>A	ENSP00000389395:p.Ala741Val					GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W	p.A741V			Q6NUI2	GPAT2_HUMAN			22	2681	-			741					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2222C>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.68|11.68	1.709764|1.709764	0.30322|0.30322	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	T;T;T|T	0.79352|0.78924	-1.26;-1.26;-0.28|-1.22	4.91|4.91	-4.54|-4.54	0.03452|0.03452	.|.	.|.	.|.	.|.	.|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.13145|0.02656	0.007;0.001;0.001;0.006|0.0	B;B;B;B|B	0.08055|0.01281	0.003;0.001;0.001;0.003|0.0	T|T	0.60182|0.60182	-0.7313|-0.7313	9|9	0.06757|0.66056	T|D	0.87|0.02	-15.4873|-15.4873	13.7313|13.7313	0.62789|0.62789	0.2194:0.0:0.7806:0.0|0.2194:0.0:0.7806:0.0	.|.	670;747;741;670|657	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9|Q6NUI2-3	.;.;GPAT2_HUMAN;.|.	V|W	741;741;670|657	ENSP00000352547:A741V;ENSP00000389395:A741V;ENSP00000393770:A670V|ENSP00000366341:R657W	ENSP00000352547:A741V|ENSP00000366341:R657W	A|R	-|-	2|1	0|2	GPAT2|GPAT2	96052192|96052192	0.005000|0.005000	0.15991|0.15991	0.276000|0.276000	0.24689|0.24689	0.761000|0.761000	0.43186|0.43186	-0.030000|-0.030000	0.12308|0.12308	-0.818000|-0.818000	0.04329|0.04329	-1.269000|-1.269000	0.01422|0.01422	GCG|CGG		0.557	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	740	0	0	0	1	0	6	740					A	96688465	G	A	96688465	3	1	109	1	0	0	0	0	1	0	0	0	6618	1087	38	1	173	1	GPAT2	2	96688465	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	31909793	96688465	146510908	19	36245											
TTN	7273	broad.mit.edu	37	chr2	179430078	179430078	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtagctgtttcttcaacGtttactcttgttgtctgttt	9	7	4	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:179430078G>A	ENST00000591111.1	-	276	76082	c.75858C>T	c.(75856-75858)aaC>aaT	p.N25286N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.N26927N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25286	Ig-like 124.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTCAACGTTTACTCTTG	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(80779-80781)aaC>aaT		titin							163	152	156					2																	179430078		1854	4099	5953	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430078G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75858C>T	2.37:g.179430078G>A						TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.N26927N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81005	-			25286			Fibronectin type-III 96.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.80781C>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		39	670	0	0	0	1	0	39	670					A	179430078	G	A	179430078	2	1	109	1	0	0	0	0	0	0	0	1	16789	1136	40	1		1	TTN	2	179430078	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	82741613	179430078	63769295	20	36246											
TTN	7273	broad.mit.edu	37	chr2	179483095	179483095	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtctttctcttaatgtcaCgtctttcaacaacgtaacct	5	11	5	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:179483095C>T	ENST00000591111.1	-	202	42391	c.42167G>A	c.(42166-42168)cGt>cAt	p.R14056H	TTN_ENST00000589042.1_Missense_Mutation_p.R15697H|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6824H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13129H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6757H|TTN_ENST00000460472.2_Missense_Mutation_p.R6632H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14056	Fibronectin type-III 1. {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)			CTTAATGTCACGTCTTTCAAC	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47089-47091)cGt>cAt		titin							76	74	74					2																	179483095		1923	4122	6045	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483095C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42167G>A	2.37:g.179483095C>T	ENSP00000465570:p.Arg14056His					TTN_ENST00000359218.5_Missense_Mutation_p.R6757H|TTN_ENST00000342992.6_Missense_Mutation_p.R13129H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14056H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6824H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6632H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	p.R15697H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	47314	-			14056			Ig-like 98.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47090G>A		.	.	.	.	.	.	.	.	.	.	C	15.85	2.955264	0.53293	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82499	0.5050	M	0.91140	3.18	0.58432	D	0.999999	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	0.85254	0.1046	9	0.87932	D	0	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	6632;6757;6824;14056	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13129;6632;6824;6757;6632	ENSP00000343764:R13129H;ENSP00000434586:R6632H;ENSP00000340554:R6824H;ENSP00000352154:R6757H	ENSP00000340554:R6824H	R	-	2	0	TTN	179191340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	CGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	257	0	0	0	1	0	11	257					T	179483095	C	T	179483095	3	4	109	1	0	0	0	0	1	0	0	0	16789	536	19	1	61047	1	TTN	2	179483095	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	53017	179483095	63716278	21	36247											
DNAH7	56171	broad.mit.edu	37	chr2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcccagtgcctggggcGcaaaccaggattacagatca	12	13	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	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)	p.R850C(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						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R850C(1)	prostate(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						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124	126	125					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys						p.R850C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		5	465	0	0	0	1	0	5	465					A	196825327	G	A	196825327	3	1	109	1	0	0	0	0	1	0	0	0	4622	1087	38	1	9718	1	DNAH7	2	196825327	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	17342232	196825327	46374046	22	36248											
CYP20A1	57404	broad.mit.edu	37	chr2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-													aaccacctctgaagaagttcAaaaaaaattatatgaagaga							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)caafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348																																						ENST00000356079.4																			0				cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						c.(895-897)cafs		cytochrome P450, family 20, subfamily A, polypeptide 1							65	72	70					2																	204150380		2203	4292	6495	SO:0001589	frameshift_variant	57404					integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:204150380delA	AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"Cytochrome P450s"	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.896delA	2.37:g.204150380delA	ENSP00000348380:p.Gln299fs					CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	p.Q299fs	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN			9	1019	+			299					Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Frame_Shift_Del	DEL	ENST00000356079.4	37	c.896delA	CCDS2357.1																																																																																				0.348	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674		8	466						8	466	---	---	---	---	-	204150380	A	-	204150380	7	5	109	1	0	1	0	1	0	0	0	0	4163	130	5	0	930	0	CYP20A1	2	204150380	Frame_Shift_Del	DEL	A	TCGA-RB-AA9M-01A-11D-A397-08	7325053	204150380	39048993	23	36249											
MAP2	4133	broad.mit.edu	37	chr2	210558569	210558569	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ctgcaacatcagctgagcttGatatgccattttatgaagat	8	8	1	4			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:210558569G>C	ENST00000360351.4	+	7	2181	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	MAP2_ENST00000447185.1_Missense_Mutation_p.D555H|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	559					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)	AGCTGAGCTTGATATGCCATT	0.368																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1675-1677)Gat>Cat		microtubule-associated protein 2	Estramustine(DB01196)						103	100	101					2																	210558569		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558569G>C		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.1675G>C	2.37:g.210558569G>C	ENSP00000353508:p.Asp559His					MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D555H	p.D559H	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2181	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	559					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1675G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362979	0.24684	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.19938	2.11;2.11	6.16	5.27	0.74061	MAP2/Tau projection (1);	0.357573	0.27451	N	0.019304	T	0.30230	0.0758	L	0.50333	1.59	0.09310	N	0.999995	P;P	0.50819	0.925;0.939	P;P	0.54499	0.639;0.754	T	0.18209	-1.0344	10	0.87932	D	0	-4.3757	7.7851	0.29087	0.129:0.2609:0.6101:0.0	.	555;559	P11137-3;P11137	.;MAP2_HUMAN	H	559;555	ENSP00000353508:D559H;ENSP00000392164:D555H	ENSP00000353508:D559H	D	+	1	0	MAP2	210266814	0.358000	0.24947	0.809000	0.32408	0.394000	0.30568	1.674000	0.37544	1.561000	0.49584	0.650000	0.86243	GAT		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		23	388	0	0	0	1	0	23	388					C	210558569	G	C	210558569	3	2	109	1	0	0	0	0	1	0	0	0	9276	1290	45	5	1689	5	MAP2	2	210558569	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	6408189	210558569	32640804	24	36250											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-													ggaagcttagggtctccagtGggggggtgtcagcagcagcc					rs368777489		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	AAMP_ENST00000420660.1_5'Flank|PNKD_ENST00000248451.3_5'Flank|AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs|PNKD_ENST00000273077.4_5'Flank			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617																																						ENST00000248450.4																			1	Insertion - Frameshift(1)	p.L16fs*9(1)	ovary(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11						c.(43-45)cafs		angio-associated, migratory cell protein							151	171	164					2																	219134766		2203	4300	6503	SO:0001589	frameshift_variant	14				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	g.chr2:219134766delG	AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.44delC	2.37:g.219134766delG	ENSP00000248450:p.Pro15fs					AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs	p.P15fs			Q13685	AAMP_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	214	-		Renal(207;0.0474)	15					Q8WUJ9|Q96H92	Frame_Shift_Del	DEL	ENST00000248450.4	37	c.44delC	CCDS33378.1																																																																																				0.617	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338756.1	NM_001087		9	1868						9	1868	---	---	---	---	-	219134766	G	-	219134766	7	5	109	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-RB-AA9M-01A-11D-A397-08	8576197	219134766	24064607	25	36251											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		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.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		10	283						10	283	---	---	---	---	-	227660810	GCT	-	227660808	7	5	109	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-RB-AA9M-01A-11D-A397-08	8526042	227660808	15538565	26	36252											
CNTN4	152330	broad.mit.edu	37	chr3	2861248	2861248	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgctactgtgtggccCgccaccccattctggaggta	12	12	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:2861248C>T	ENST00000397461.1	+	6	821	c.437C>T	c.(436-438)cCg>cTg	p.P146L	CNTN4_ENST00000427331.1_Missense_Mutation_p.P146L|CNTN4_ENST00000418658.1_Missense_Mutation_p.P146L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	146	Ig-like C2-type 2.				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)		CTGTGTGGCCCGCCACCCCAT	0.448																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(436-438)cCg>cTg		contactin 4							97	95	96					3																	2861248		1964	4160	6124	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2861248C>T	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.437C>T	3.37:g.2861248C>T	ENSP00000380602:p.Pro146Leu					CNTN4_ENST00000418658.1_Missense_Mutation_p.P146L|CNTN4_ENST00000427331.1_Missense_Mutation_p.P146L	p.P146L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	6	821	+		Ovarian(110;0.156)	146			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.437C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708348	0.89018	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.65178	-0.14;-0.14;-0.14	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.85330	0.1089	10	0.87932	D	0	.	17.1044	0.86658	0.0:1.0:0.0:0.0	.	146;146	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	L	146	ENSP00000396010:P146L;ENSP00000380602:P146L;ENSP00000413642:P146L	ENSP00000380602:P146L	P	+	2	0	CNTN4	2836248	1.000000	0.71417	0.872000	0.34217	0.971000	0.66376	5.939000	0.70179	2.765000	0.95021	0.655000	0.94253	CCG		0.448	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			14	211	0	0	0	1	0	14	211					T	2861248	C	T	2861248	3	4	109	1	0	0	0	0	1	0	0	0	3652	652	23	1	451	1	CNTN4	3	2861248	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		2861248	195161182	27	36253											
TMEM40	55287	broad.mit.edu	37	chr3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-													atgaggaggatgaggaggaaGaggaggaggaggaagaagac							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	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.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	595						7	595	---	---	---	---	-	12790200	GAG	-	12790198	7	5	109	1	0	1	0	1	0	0	0	0	16215	942	33	0	574	0	TMEM40	3	12790198	In_Frame_Del	DEL	GAG	TCGA-RB-AA9M-01A-11D-A397-08	9928950	12790198	185232232	28	36254											
CCR4	1233	broad.mit.edu	37	chr3	32995225	32995225	+	Frame_Shift_Del	DEL	T	T	-													ctatgcagcagaccagtgggTttttgggctaggtctgtgca							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:32995225delT	ENST00000330953.5	+	2	479	c.311delT	c.(310-312)gttfs	p.V104fs		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	104					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						GACCAGTGGGTTTTTGGGCTA	0.478																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(310-312)gtfs		chemokine (C-C motif) receptor 4							270	265	267					3																	32995225		2203	4300	6503	SO:0001589	frameshift_variant	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995225delT	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.311delT	3.37:g.32995225delT	ENSP00000332659:p.Val104fs						p.V104fs	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	479	+			104					Q9ULY6|Q9ULY7	Frame_Shift_Del	DEL	ENST00000330953.5	37	c.311delT	CCDS2656.1																																																																																				0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			7	1071						7	1071	---	---	---	---	-	32995225	T	-	32995225	7	5	109	1	0	1	0	1	0	0	0	0	2952	1725	60	0	313	0	CCR4	3	32995225	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	20205027	32995225	165027205	29	36255											
ZBTB47	92999	broad.mit.edu	37	chr3	42703100	42703100	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagaagttctacaccatgGcccacgtgcgtaagcacatg	10	11	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:42703100G>A	ENST00000232974.6	+	3	1878	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	ZBTB47_ENST00000457842.3_Missense_Mutation_p.A157T|ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79T			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CTACACCATGGCCCACGTGCG	0.522																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(469-471)Gcc>Acc		zinc finger and BTB domain containing 47							62	62	62					3																	42703100		2010	4192	6202	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42703100G>A	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.1597G>A	3.37:g.42703100G>A	ENSP00000232974:p.Ala533Thr					ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533T|ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79T	p.A157T	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	3	1878	+			157					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.469G>A	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313988	0.81358	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.07567	3.18;3.18;3.18	4.84	4.84	0.62591	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	0.30541	0.0768	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.03514	-1.1029	10	0.52906	T	0.07	-29.8628	17.9286	0.88991	0.0:0.0:1.0:0.0	.	157	Q9UFB7	ZBT47_HUMAN	T	533;432;157;79	ENSP00000232974:A533T;ENSP00000411491:A157T;ENSP00000420968:A79T	ENSP00000232974:A533T	A	+	1	0	ZBTB47	42678104	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.785000	0.99042	2.230000	0.72887	0.561000	0.74099	GCC		0.522	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		17	192	0	0	0	1	0	17	192					A	42703100	G	A	42703100	3	1	109	1	0	0	0	0	1	0	0	0	17601	1203	42	2	1603	2	ZBTB47	3	42703100	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	9707875	42703100	155319330	30	36256											
QRICH1	54870	broad.mit.edu	37	chr3	49094328	49094328	+	Silent	SNP	C	C	T													tggagttgctgctgctgctgCtgtggtggtggtgtctgttc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:49094328C>T	ENST00000395443.2	-	3	1777	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Silent_p.Q435Q|QRICH1_ENST00000424300.1_Silent_p.Q435Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	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)		gctgctgctgctgtggtggtg	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1303-1305)caG>caA		glutamine-rich 1							56	59	58					3																	49094328		2203	4300	6503	SO:0001819	synonymous_variant	54870							g.chr3:49094328C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1305G>A	3.37:g.49094328C>T						QRICH1_ENST00000424300.1_Silent_p.Q435Q|QRICH1_ENST00000357496.2_Silent_p.Q435Q|QRICH1_ENST00000479449.1_5'UTR	p.Q435Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1777	-			435			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.1305G>A	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		6	247	0	0	0	1	0	6	247					T	49094328	C	T	49094328	2	4	109	1	0	0	0	0	0	0	0	1	12929	796	28	2		2	QRICH1	3	49094328	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	6391228	49094328	148928102	31	36257	226	2									
QRICH1	54870	broad.mit.edu	37	chr3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G													ggagttgctgctgctgctgcTgtggtggtggtgtctgttcc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:49094329T>G	ENST00000395443.2	-	3	1776	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	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)		ctgctgctgctgtggtggtgg	0.562																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1303-1305)cAg>cCg		glutamine-rich 1							56	59	58					3																	49094329		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094329T>G		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.1304A>C	3.37:g.49094329T>G	ENSP00000378830:p.Gln435Pro					QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR	p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1776	-			435			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1304A>C	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	5.645	0.303697	0.10678	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.43	1.78	0.24846	.	0.841724	0.11273	N	0.581264	T	0.28333	0.0700	N	0.08118	0	0.30548	N	0.765714	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	9	0.28530	T	0.3	-0.0185	13.1216	0.59329	0.0:0.0:0.2998:0.7002	.	435	Q2TAL8	QRIC1_HUMAN	P	435	.	ENSP00000350094:Q435P	Q	-	2	0	QRICH1	49069333	0.520000	0.26250	0.659000	0.29680	0.912000	0.54170	0.726000	0.25984	0.069000	0.16605	0.533000	0.62120	CAG		0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		5	253	0	0	0	1	0	5	253					G	49094329	T	G	49094329	3	3	109	1	0	0	0	0	1	0	0	0	12929	1580	55	4	1058	4	QRICH1	3	49094329	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08	1	49094329	148928101	32	36258	226	2									
DZIP3	9666	broad.mit.edu	37	chr3	108363319	108363319	+	Frame_Shift_Del	DEL	A	A	-													taaatgtgttccctgcacccAaaaaaggatggaatatggaa							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:108363319delA	ENST00000361582.3	+	14	1680	c.1450delA	c.(1450-1452)aaafs	p.K485fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.K485fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	485					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						CCCTGCACCCAAAAAAGGATG	0.408																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1450-1452)aafs		DAZ interacting zinc finger protein 3							114	114	114					3																	108363319		2203	4300	6503	SO:0001589	frameshift_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363319delA	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.1450delA	3.37:g.108363319delA	ENSP00000355028:p.Lys485fs					DZIP3_ENST00000463306.1_Frame_Shift_Del_p.K485fs	p.K485fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1680	+			485					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Frame_Shift_Del	DEL	ENST00000361582.3	37	c.1450delA	CCDS2952.1																																																																																				0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		8	661						8	661	---	---	---	---	-	108363319	A	-	108363319	7	5	109	1	0	1	0	1	0	0	0	0	4881	131	5	0	1500	0	DZIP3	3	108363319	Frame_Shift_Del	DEL	A	TCGA-RB-AA9M-01A-11D-A397-08	59268990	108363319	89659111	33	36259											
SLC9A10	285335	broad.mit.edu	37	chr3	112005609	112005610	+	Frame_Shift_Ins	INS	-	-	A													cagggaggtcctcagtactgINSaaaaaaaactccttaaatat							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:112005609_112005610insA	ENST00000305815.5	-	2	281_282	c.29_30insT	c.(28-30)ttcfs	p.F10fs	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.F10fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	10					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCTCAGTACTGAAAAAAAACTC	0.351																																						ENST00000305815.5																			0											c.(28-30)tagfs		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1				2,4264		0,2,2131						-4.7	0			58	3,8245		0,3,4121	no	frameshift	SLC9A10	NM_183061.1		0,5,6252	A1A1,A1R,RR		0.0364,0.0469,0.04				5,12509				SO:0001589	frameshift_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:112005609_112005610insA	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.30dupT	3.37:g.112005617_112005617dupA	ENSP00000306627:p.Phe10fs					SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.*10fs|SLC9C1_ENST00000467397.1_5'UTR	p.*10fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			2	281_282	-			10					Q6ZRP4|Q7RTP2	Frame_Shift_Ins	INS	ENST00000305815.5	37	c.29_30insT	CCDS33817.1																																																																																				0.351	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		7	218						7	218	---	---	---	---	A	112005610	-	A	112005609	7	5	109	1	0	1	1	0	0	0	0	0	14760	1281	45	0	3615	0	SLC9A10	3	112005609	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	3642290	112005609	86016821	34	36260											
ARHGAP31	57514	broad.mit.edu	37	chr3	119101232	119101232	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacctggccctggtgtgggcGccaaacctcctcaggtaacc	11	15	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:119101232G>A	ENST00000264245.4	+	5	1057	c.525G>A	c.(523-525)gcG>gcA	p.A175A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	175	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)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGGTGTGGGCGCCAAACCTCC	0.557																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(523-525)gcG>gcA		Rho GTPase activating protein 31							61	71	68					3																	119101232		1942	4142	6084	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119101232G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.525G>A	3.37:g.119101232G>A							p.A175A	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			5	1057	+			175			Rho-GAP.		Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.525G>A	CCDS43135.1																																																																																				0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			5	296	0	0	0	1	0	5	296					A	119101232	G	A	119101232	2	1	109	1	0	0	0	0	0	0	0	1	880	1074	38	1		1	ARHGAP31	3	119101232	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	7095623	119101232	78921198	35	36261											
SEC62	7095	broad.mit.edu	37	chr3	169700663	169700664	+	Frame_Shift_Ins	INS	-	-	A													agacaaaaaaagaaaaagagINSaaaaaaaaagatggtgaaaa							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:169700663_169700664insA	ENST00000337002.4	+	4	478_479	c.420_421insA	c.(421-423)aaafs	p.K141fs	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K141fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	141					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						aagaaaaagagaaaaaaaaaga	0.277																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(418-423)gaaaaafs		SEC62 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700663_169700664insA	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.429dupA	3.37:g.169700672_169700672dupA	ENSP00000337688:p.Lys141fs					SEC62_ENST00000480708.1_Frame_Shift_Ins_p.EK140fs|SEC62-AS1_ENST00000479626.1_RNA	p.EK140fs	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			4	478_479	+			140					D3DNQ0|O00682|O00729	Frame_Shift_Ins	INS	ENST00000337002.4	37	c.420_421insA	CCDS3210.1																																																																																				0.277	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			8	127						8	127	---	---	---	---	A	169700664	-	A	169700663	7	5	109	1	0	1	1	0	0	0	0	0	14054	933	33	0	434	0	SEC62	3	169700663	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	50599431	169700663	28321767	36	36262											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						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)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	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.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		8	847						8	847	---	---	---	---	-	946207	TG	-	946206	7	5	109	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-RB-AA9M-01A-11D-A397-08		946206	190208070	37	36263											
CRIPAK	285464	broad.mit.edu	37	chr4	1388580	1388581	+	Frame_Shift_Ins	INS	-	-	C													acatgtgccgatgtggagtgINSccacctgctcacacacgtgc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr4:1388580_1388581insC	ENST00000324803.4	+	1	3241_3242	c.281_282insC	c.(280-285)tgccacfs	p.H95fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	95			H -> P (in dbSNP:rs9328733).|H -> R (in dbSNP:rs9328733).		negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GATGTGGAGTGCCACCTGCTCA	0.658																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(280-282)tcafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388580_1388581insC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.283dupC	4.37:g.1388582_1388582dupC	ENSP00000323978:p.His95fs						p.S94fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3241_3242	+			94					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.281_282insC	CCDS3349.1																																																																																				0.658	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	1326						7	1326	---	---	---	---	C	1388581	-	C	1388580	7	5	109	1	0	1	1	0	0	0	0	0	3886	1319	46	0	283	0	CRIPAK	4	1388580	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	442374	1388580	189765696	38	36264											
SDHA	6389	broad.mit.edu	37	chr5	228381	228381	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atggggagtgccgtggtgtcAtcgcactgtgcatagaggac	16	8	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					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)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(703-705)Atc>Ttc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						99	91	94					5																	228381		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228381A>T	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.703A>T	5.37:g.228381A>T	ENSP00000264932:p.Ile235Phe					SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	p.I235F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	818	+			235					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.703A>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779259	0.70107	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136916	0.47455	U	0.000240	D	0.82774	0.5110	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.993;0.997;0.997;0.997	P;D;P;D;D	0.63703	0.883;0.917;0.88;0.917;0.917	D	0.85499	0.1190	10	0.87932	D	0	.	13.4155	0.60966	1.0:0.0:0.0:0.0	.	187;235;235;235;241	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	235;235;187	ENSP00000264932:I235F;ENSP00000426514:I235F;ENSP00000427703:I187F	ENSP00000264932:I235F	I	+	1	0	SDHA	281381	1.000000	0.71417	0.042000	0.18584	0.341000	0.28922	8.895000	0.92512	2.127000	0.65507	0.524000	0.50904	ATC		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	322	0	0	0	1	0	5	322					T	228381	A	T	228381	3	4	109	1	0	0	0	0	1	0	0	0	14013	217	8	5	725	5	SDHA	5	228381	Missense_Mutation	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08		228381	180686879	39	36265											
SDHA	6389	broad.mit.edu	37	chr5	236619	236619	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgcctgtgcctcggTacatggtgccaaccgcctcg	14	15	0	0	rs201741295	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:236619T>C	ENST00000264932.6	+	10	1452	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	SDHA_ENST00000510361.1_Missense_Mutation_p.V398A|SDHA_ENST00000504309.1_Missense_Mutation_p.V446A	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	446					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTGCCTCGGTACATGGTGCC	0.602									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(1336-1338)gTa>gCa		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						75	69	71					5																	236619		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:236619T>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1337T>C	5.37:g.236619T>C	ENSP00000264932:p.Val446Ala					SDHA_ENST00000504309.1_Missense_Mutation_p.V446A|SDHA_ENST00000510361.1_Missense_Mutation_p.V398A	p.V446A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		10	1452	+			446					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.1337T>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.46	3.628443	0.67015	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.72835	-0.69;-0.69;-0.69	5.01	5.01	0.66863	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.079100	0.50627	U	0.000109	D	0.85737	0.5766	M	0.89904	3.07	0.80722	D	1	P;D;D;P;D	0.76494	0.828;0.979;0.999;0.952;0.99	P;D;D;P;D	0.72982	0.654;0.936;0.979;0.863;0.909	D	0.88385	0.3004	10	0.66056	D	0.02	.	12.9547	0.58421	0.0:0.0:0.0:1.0	.	398;446;40;446;446	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040	.;.;.;.;DHSA_HUMAN	A	446;301;446;398	ENSP00000264932:V446A;ENSP00000426514:V446A;ENSP00000427703:V398A	ENSP00000264932:V446A	V	+	2	0	SDHA	289619	1.000000	0.71417	0.973000	0.42090	0.144000	0.21451	5.998000	0.70653	2.009000	0.58944	0.528000	0.53228	GTA		0.602	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		8	393	0	0	0	1	0	8	393					C	236619	T	C	236619	3	2	109	1	0	0	0	0	1	0	0	0	14013	1638	57	4	1375	4	SDHA	5	236619	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08	8238	236619	180678641	40	36266											
PDZD2	23037	broad.mit.edu	37	chr5	32108081	32108081	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttattctcgtaggtggtgCggctgaacaagctggaataa	13	6	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:32108081C>T	ENST00000438447.1	+	25	8748	c.8360C>T	c.(8359-8361)gCg>gTg	p.A2787V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A2787V|PDZD2_ENST00000513490.1_3'UTR|CTD-2152M20.2_ENST00000503441.1_RNA			O15018	PDZD2_HUMAN	PDZ domain containing 2	2787	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						GTAGGTGGTGCGGCTGAACAA	0.348																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(8359-8361)gCg>gTg		PDZ domain containing 2							111	116	114					5																	32108081		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32108081C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8360C>T	5.37:g.32108081C>T	ENSP00000402033:p.Ala2787Val					CTD-2152M20.2_ENST00000503441.1_RNA|PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.A2787V	p.A2787V			O15018	PDZD2_HUMAN			25	8748	+			2787			PDZ 6.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.8360C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600307	0.87055	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.37411	1.2;1.2	5.88	5.88	0.94601	PDZ/DHR/GLGF (4);	0.000000	0.56097	D	0.000030	T	0.51890	0.1701	L	0.39898	1.24	0.52501	D	0.999956	D	0.89917	1.0	D	0.97110	1.0	T	0.30149	-0.9988	10	0.29301	T	0.29	.	17.7218	0.88353	0.0:1.0:0.0:0.0	.	2787	O15018	PDZD2_HUMAN	V	2787;2588;2787	ENSP00000402033:A2787V;ENSP00000282493:A2787V	ENSP00000282493:A2787V	A	+	2	0	PDZD2	32143838	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	6.955000	0.76007	2.778000	0.95560	0.655000	0.94253	GCG		0.348	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	474	0	0	0	1	0	6	474					T	32108081	C	T	32108081	3	4	109	1	0	0	0	0	1	0	0	0	11743	768	27	1	8454	1	PDZD2	5	32108081	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	31871462	32108081	148807179	41	36267											
FYB	2533	broad.mit.edu	37	chr5	39127879	39127879	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcaatcccatcataaAtgtcatcatctggtggtgga	7	11	6	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:39127879A>T	ENST00000351578.6	-	11	2061	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	FYB_ENST00000540520.1_Missense_Mutation_p.I634N|FYB_ENST00000512982.1_Missense_Mutation_p.I624N|FYB_ENST00000515010.1_Missense_Mutation_p.I624N|FYB_ENST00000505428.1_Missense_Mutation_p.I624N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	624					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)			CCCATCATAAATGTCATCATC	0.328																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(1870-1872)aTt>aAt		FYN binding protein							108	102	104					5																	39127879		1841	4094	5935	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39127879A>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1871T>A	5.37:g.39127879A>T	ENSP00000316460:p.Ile624Asn					FYB_ENST00000540520.1_Missense_Mutation_p.I634N|FYB_ENST00000515010.1_Missense_Mutation_p.I624N|FYB_ENST00000505428.1_Missense_Mutation_p.I624N|FYB_ENST00000512982.1_Missense_Mutation_p.I624N	p.I624N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		11	2061	-	all_lung(31;0.000343)		624					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1871T>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765303	0.49574	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.37915	1.47;1.47;1.17;1.17;1.17	5.38	5.38	0.77491	.	0.067000	0.64402	D	0.000010	T	0.54208	0.1844	L	0.49126	1.545	0.43942	D	0.996602	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.995	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.8248	14.2579	0.66065	1.0:0.0:0.0:0.0	.	634;624	B4DLN2;O15117	.;FYB_HUMAN	N	624;624;624;624;634;624	ENSP00000316460:I624N;ENSP00000426346:I624N;ENSP00000425845:I624N;ENSP00000427114:I624N;ENSP00000442840:I634N	ENSP00000316460:I624N	I	-	2	0	FYB	39163636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.035000	0.70940	2.164000	0.68074	0.477000	0.44152	ATT		0.328	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		15	152	0	0	0	1	0	15	152					T	39127879	A	T	39127879	3	4	109	1	0	0	0	0	1	0	0	0	6151	101	4	5	654	5	FYB	5	39127879	Missense_Mutation	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08	7019798	39127879	141787381	42	36268											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-													atcacatctgctgttgatggAaaaaatatagtcaggagcaa							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					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)		CTGTTGATGGAAAAAATATAG	0.378																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(2719-2721)ggfs		erbb2 interacting protein							571	551	558					5																	65349867		2203	4300	6503	SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65349867delA		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.2721delA	5.37:g.65349867delA	ENSP00000284037:p.Gly907fs					ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron	p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	21	3110	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	907					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Del	DEL	ENST00000284037.5	37	c.2721delA	CCDS58953.1																																																																																				0.378	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		7	1773						7	1773	---	---	---	---	-	65349867	A	-	65349867	7	5	109	1	0	1	0	1	0	0	0	0	5225	233	9	0	2795	0	ERBB2IP	5	65349867	Frame_Shift_Del	DEL	A	TCGA-RB-AA9M-01A-11D-A397-08	26221988	65349867	115565393	43	36269											
CMYA5	202333	broad.mit.edu	37	chr5	79032394	79032394	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaaaaatcagaagccatgctCgcagaggctcacccagaaat	9	11	2	3			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:79032394C>T	ENST00000446378.2	+	2	7837	c.7806C>T	c.(7804-7806)ctC>ctT	p.L2602L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2602					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)		AAGCCATGCTCGCAGAGGCTC	0.398																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7804-7806)ctC>ctT		cardiomyopathy associated 5							60	61	61					5																	79032394		1853	4106	5959	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79032394C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7806C>T	5.37:g.79032394C>T							p.L2602L	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7837	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2602					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.7806C>T	CCDS47238.1																																																																																				0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		18	173	0	0	0	1	0	18	173					T	79032394	C	T	79032394	2	4	109	1	0	0	0	0	0	0	0	1	3599	871	31	1		1	CMYA5	5	79032394	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	13682527	79032394	101882866	44	36270											
KIF4B	285643	broad.mit.edu	37	chr5	154395466	154395466	+	Frame_Shift_Del	DEL	C	C	-													aagaacgagaccgtaagaggCaatatgagctgctcaaactt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:154395466delC	ENST00000435029.4	+	1	2207	c.2047delC	c.(2047-2049)caafs	p.Q683fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	683	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)			CCGTAAGAGGCAATATGAGCT	0.423																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2047-2049)aafs		kinesin family member 4B							125	128	127					5																	154395466		2203	4300	6503	SO:0001589	frameshift_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395466delC	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.2047delC	5.37:g.154395466delC	ENSP00000387875:p.Gln683fs						p.Q683fs	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2207	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	683			Interaction with PRC1 (By similarity).			Frame_Shift_Del	DEL	ENST00000435029.4	37	c.2047delC	CCDS47324.1																																																																																				0.423	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			34	550						34	550	---	---	---	---	-	154395466	C	-	154395466	7	5	109	1	0	1	0	1	0	0	0	0	8334	711	25	0	2049	0	KIF4B	5	154395466	Frame_Shift_Del	DEL	C	TCGA-RB-AA9M-01A-11D-A397-08	75363072	154395466	26519794	45	36271											
FAM71B	153745	broad.mit.edu	37	chr5	156590151	156590151	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtaatactgcctgcaaaCgccgcactcaagctgctgtc	9	14	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1123-1125)gcG>gcA		family with sequence similarity 71, member B							41	43	42					5																	156590151		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590151C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1125G>A	5.37:g.156590151C>T							p.A375A	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1220	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	375					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1125G>A	CCDS4335.1																																																																																				0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		15	213	0	0	0	1	0	15	213					T	156590151	C	T	156590151	2	4	109	1	0	0	0	0	0	0	0	1	5633	523	19	1		1	FAM71B	5	156590151	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	2194685	156590151	24325109	46	36272											
FLT4	2324	broad.mit.edu	37	chr5	180048549	180048549	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cggccagcctcaccctgcacCgacaggtacttcttgtggca	10	16	2	0	rs370019097		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:180048549C>G	ENST00000261937.6	-	13	2091	c.2013G>C	c.(2011-2013)tcG>tcC	p.S671S	FLT4_ENST00000502649.1_Silent_p.S671S|FLT4_ENST00000393347.3_Silent_p.S671S|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	671	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCCTGCACCGACAGGTACT	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2011-2013)tcG>tcC		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						32	33	33					5																	180048549		2197	4293	6490	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048549C>G	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.2013G>C	5.37:g.180048549C>G						FLT4_ENST00000502649.1_Silent_p.S671S|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.S671S	p.S671S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2091	-	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)	671			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2013G>C	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			12	209	0	0	0	1	0	12	209					G	180048549	C	G	180048549	2	3	109	1	0	0	0	0	0	0	0	1	5969	639	23	5		5	FLT4	5	180048549	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	23458398	180048549	866711	47	36273											
GCNT2	2651	broad.mit.edu	37	chr6	10586309	10586309	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacagtagccaattgagcccGccaaaaagttatgagaagct	9	9	0	2	rs201305914		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:10586309G>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000265012.4_Silent_p.P29P|GCNT2_ENST00000316170.3_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)		AATTGAGCCCGCCAAAAAGTT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20608	0.0		0.0	False		,,,				2504	0.0					ENST00000265012.4																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(85-87)ccG>ccA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							138	133	135					6																	10586309		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586309G>A	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.926-35275G>A	6.37:g.10586309G>A						GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Intron	p.P29P	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	331	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	30						Silent	SNP	ENST00000379597.3	37	c.87G>A	CCDS34338.1																																																																																				0.403	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		6	703	0	0	0	1	0	6	703					A	10586309	G	A	10586309	1	1	109	0	1	0	0	0	0	0	0	0	6329	1074	38	1		1	GCNT2	6	10586309	Intron	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		10586309	160528758	48	36274											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100369	27100369	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttggacgaaatgCcggtgtcagggtggacctgc	15	11	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:27100369C>T	ENST00000607124.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GGACGAAATGCCGGTGTCAGG	0.547																																						ENST00000607124.1																			2	Substitution - Missense(2)	p.G54D(2)	prostate(1)|kidney(1)	breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(160-162)gGc>gAc		histone cluster 1, H2bj							207	196	200					6																	27100369		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100369C>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"Histones / Replication-dependent"	4761	protein-coding gene	gene with protein product		615044	"H2B histone family, member R", "histone 1, H2bj"	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.161G>A	6.37:g.27100369C>T	ENSP00000476136:p.Gly54Asp					HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.G54D|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.G54D	p.G54D			P06899	H2B1J_HUMAN			1	160	-			54					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.161G>A	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377785	0.61735	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.69435	-0.4;-0.4	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.83133	0.5188	M	0.93150	3.385	0.58432	D	0.999999	D	0.71674	0.998	D	0.72075	0.976	D	0.87687	0.2551	9	0.87932	D	0	.	14.8046	0.69942	0.0:1.0:0.0:0.0	.	54	P06899	H2B1J_HUMAN	D	54	ENSP00000445633:G54D;ENSP00000342886:G54D	ENSP00000342886:G54D	G	-	2	0	HIST1H2BJ	27208348	1.000000	0.71417	0.993000	0.49108	0.074000	0.17049	4.245000	0.58734	2.273000	0.75805	0.591000	0.81541	GGC		0.547	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		6	911	0	0	0	1	0	6	911					T	27100369	C	T	27100369	3	4	109	1	0	0	0	0	1	0	0	0	7179	739	26	2	223	2	HIST1H2BJ	6	27100369	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	16514060	27100369	144014698	49	36275											
SCAND3	114821	broad.mit.edu	37	chr6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttagactttaatgaccGcaaaaaagttaactttgtac	5	8	0	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	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						TTTAATGACCGCAAAAAAGTT	0.373																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1219-1221)Cgg>Tgg		SCAN domain containing 3							47	50	49					6																	28543263		2200	4300	6500	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543263G>A																												ENST00000452236.2:c.1219C>T	6.37:g.28543263G>A	ENSP00000395259:p.Arg407Trp						p.R407W	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1836	-			407			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1219C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	334	0	0	0	1	0	5	334					A	28543263	G	A	28543263	3	1	109	1	0	0	0	0	1	0	0	0	13926	1086	38	1	2766	1	SCAND3	6	28543263	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	1442894	28543263	142571804	50	36276											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221052	44221052	+	Frame_Shift_Del	DEL	T	T	-													ccgccctgctatcttctggcTtttcccttgaggatccccag							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:44221052delT	ENST00000371554.1	+	11	2216	c.2002delT	c.(2002-2004)tttfs	p.F668fs	SLC35B2_ENST00000495706.1_5'Flank|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|MIR4647_ENST00000583964.1_RNA			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	668					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)			ATCTTCTGGCTTTTCCCTTGA	0.527																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(2002-2004)ttfs		heat shock protein 90kDa alpha (cytosolic), class B member 1							332	336	334					6																	44221052		2203	4300	6503	SO:0001589	frameshift_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221052delT	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.2002delT	6.37:g.44221052delT	ENSP00000360609:p.Phe668fs					HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs	p.F668fs			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2216	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		668					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.2002delT	CCDS4909.1																																																																																				0.527	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		8	1816						8	1816	---	---	---	---	-	44221052	T	-	44221052	7	5	109	1	0	1	0	1	0	0	0	0	7432	1609	56	0	2040	0	HSP90AB1	6	44221052	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	15677789	44221052	126894015	51	36277											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		12	335						12	335	---	---	---	---	A	46660415	-	A	46660414	7	5	109	1	0	1	1	0	0	0	0	0	15786	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	2439362	46660414	124454653	52	36278											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		8	470						8	470	---	---	---	---	-	88144700	A	-	88144700	7	5	109	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-RB-AA9M-01A-11D-A397-08	41484286	88144700	82970367	53	36279											
GRIK2	2898	broad.mit.edu	37	chr6	102516294	102516294	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcggttaaaacataagCcacaggccccagttattgtg	10	10	0	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:102516294C>T	ENST00000421544.1	+	16	3125	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	GRIK2_ENST00000369134.4_Missense_Mutation_p.P830S|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.P803S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	879					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)	AAAACATAAGCCACAGGCCCC	0.423																																						ENST00000421544.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2635-2637)Cca>Tca		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						113	102	106					6																	102516294		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102516294C>T		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.2635C>T	6.37:g.102516294C>T	ENSP00000397026:p.Pro879Ser					GRIK2_ENST00000369137.3_Missense_Mutation_p.P803S|GRIK2_ENST00000369134.4_Missense_Mutation_p.P830S|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000413795.1_3'UTR	p.P879S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	16	3125	+		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)	879					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2635C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886211	0.51908	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.10288	2.89;3.11;2.9	5.79	5.79	0.91817	.	0.049332	0.85682	D	0.000000	T	0.07863	0.0197	L	0.53249	1.67	0.58432	D	0.999999	B	0.16396	0.017	B	0.15484	0.013	T	0.10847	-1.0612	10	0.33141	T	0.24	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	879	Q13002	GRIK2_HUMAN	S	879;803;830	ENSP00000397026:P879S;ENSP00000358133:P803S;ENSP00000358130:P830S	ENSP00000358130:P830S	P	+	1	0	GRIK2	102622987	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.463000	0.80869	2.745000	0.94114	0.462000	0.41574	CCA		0.423	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			22	300	0	0	0	1	0	22	300					T	102516294	C	T	102516294	3	4	109	1	0	0	0	0	1	0	0	0	6804	739	26	2	2870	2	GRIK2	6	102516294	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	14371594	102516294	68598773	54	36280											
REV3L	5980	broad.mit.edu	37	chr6	111709251	111709251	+	Frame_Shift_Del	DEL	T	T	-													tcctgaagtctcttctgaaaTtttttttcactttctgttgc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:111709251delT	ENST00000358835.3	-	9	1354	c.900delA	c.(898-900)aaafs	p.K300fs	REV3L_ENST00000368802.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.K300fs|REV3L_ENST00000435970.1_Frame_Shift_Del_p.K222fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	300					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)		TCTTCTGAAATTTTTTTTCAC	0.284								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(664-666)aafs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							52	55	54					6																	111709251		2202	4297	6499	SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111709251delT	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.900delA	6.37:g.111709251delT	ENSP00000351697:p.Lys300fs					REV3L_ENST00000368802.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.K300fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.K300fs	p.K222fs			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	10	1482	-		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)	300					O43214|Q5TC33	Frame_Shift_Del	DEL	ENST00000358835.3	37	c.666delA	CCDS5091.2																																																																																				0.284	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		8	425						8	425	---	---	---	---	-	111709251	T	-	111709251	7	5	109	1	0	1	0	1	0	0	0	0	13290	1490	52	0	8592	0	REV3L	6	111709251	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	9192957	111709251	59405816	55	36281											
GRM1	2911	broad.mit.edu	37	chr6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagctttgaccgactcttgcGcaaactccgagagaggcttc	11	12	1	2	rs553512718		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					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.R275H(1)		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)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.001		0.0	False		,,,				2504	0.0					ENST00000392299.2																			1	Substitution - Missense(1)	p.R275H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(823-825)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						93	84	87					6																	146480607		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480607G>A	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.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His					GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H	p.R275H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1294	+		Ovarian(120;0.0387)	275					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.824G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	215	0	0	0	1	0	4	215					A	146480607	G	A	146480607	3	1	109	1	0	0	0	0	1	0	0	0	6826	1087	38	1	830	1	GRM1	6	146480607	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	34771356	146480607	24634460	56	36282											
KIAA0895	23366	broad.mit.edu	37	chr7	36374693	36374693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttccctccagccaatgctcaCgtgcagtggacacattgata	8	13	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:36374693C>T	ENST00000297063.6	-	4	1012	c.962G>A	c.(961-963)cGt>cAt	p.R321H	KIAA0895_ENST00000436884.1_Missense_Mutation_p.R218H|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R76H|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000317020.6_Missense_Mutation_p.R270H|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R318H|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R308H|Y_RNA_ENST00000364562.1_RNA	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	321										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAATGCTCACGTGCAGTGGA	0.433																																						ENST00000317020.6																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(808-810)cGt>cAt		KIAA0895							113	109	110					7																	36374693		2035	4206	6241	SO:0001583	missense	23366							g.chr7:36374693C>T	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.962G>A	7.37:g.36374693C>T	ENSP00000297063:p.Arg321His					KIAA0895_ENST00000297063.6_Missense_Mutation_p.R321H|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R218H|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R308H|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R318H|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R76H	p.R270H	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN			3	1109	-			321					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.809G>A	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530230	0.96446	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212;ENST00000431396	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.77313	2.365	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	D	0.84184	0.0441	9	0.72032	D	0.01	-11.6493	20.142	0.98061	0.0:1.0:0.0:0.0	.	318;218;321;308;270	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	H	321;308;270;318;218;76;76	.	ENSP00000297063:R321H	R	-	2	0	KIAA0895	36341218	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.393000	0.79851	2.754000	0.94517	0.655000	0.94253	CGT		0.433	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		24	474	0	0	0	1	0	24	474					T	36374693	C	T	36374693	3	4	109	1	0	0	0	0	1	0	0	0	8227	536	19	1	616	1	KIAA0895	7	36374693	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		36374693	122763970	57	36283											
HGF	3082	broad.mit.edu	37	chr7	81358937	81358937	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacttgcacttgaaattttCaggagtcatgtcatgctcgt	8	9	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:81358937C>A	ENST00000222390.5	-	8	1250	c.1024G>T	c.(1024-1026)Gaa>Taa	p.E342*	HGF_ENST00000457544.2_Nonsense_Mutation_p.E337*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	342	Kringle 3. {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						TTGAAATTTTCAGGAGTCATG	0.418																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1024-1026)Gaa>Taa		hepatocyte growth factor (hepapoietin A; scatter factor)							126	116	119					7																	81358937		2203	4300	6503	SO:0001587	stop_gained	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81358937C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1024G>T	7.37:g.81358937C>A	ENSP00000222390:p.Glu342*					HGF_ENST00000457544.2_Nonsense_Mutation_p.E337*	p.E342*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			8	1250	-			342			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	c.1024G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	38	6.828463	0.97869	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	5.76	5.76	0.90799	.	0.095331	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.9767	0.97312	0.0:1.0:0.0:0.0	.	.	.	.	X	342;337	.	ENSP00000222390:E342X	E	-	1	0	HGF	81196873	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	2.444000	0.44890	2.702000	0.92279	0.655000	0.94253	GAA		0.418	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		5	326	1	0	1.23904e-05	1	1.30788e-05	5	326					A	81358937	C	A	81358937	4	1	109	1	0	0	0	0	0	1	0	0	7115	835	29	3	1206	3	HGF	7	81358937	Nonsense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	44984244	81358937	77779726	58	36284											
TRIP6	7205	broad.mit.edu	37	chr7	100465514	100465514	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccccagggtcaatttttgCccccttccatctgagcagtg	8	15	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:100465514C>T	ENST00000200457.4	+	2	501	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	47					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAATTTTTGCCCCCTTCCAT	0.622																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(139-141)tgC>tgT		thyroid hormone receptor interactor 6							63	75	71					7																	100465514		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100465514C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.141C>T	7.37:g.100465514C>T							p.C47C	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			2	501	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		47					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.141C>T	CCDS5708.1																																																																																				0.622	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		5	600	0	0	0	1	0	5	600					T	100465514	C	T	100465514	2	4	109	1	0	0	0	0	0	0	0	1	16612	747	26	2		2	TRIP6	7	100465514	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	19106577	100465514	58673149	59	36285											
MUC17	140453	broad.mit.edu	37	chr7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggctagaacactttcagcaaCtcctgttgacaccagcacac	7	14	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:100677537C>G	ENST00000306151.4	+	3	2904	c.2840C>G	c.(2839-2841)aCt>aGt	p.T947S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	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)					CTTTCAGCAACTCCTGTTGAC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2839-2841)aCt>aGt		mucin 17, cell surface associated							337	304	315					7																	100677537		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677537C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2840C>G	7.37:g.100677537C>G	ENSP00000302716:p.Thr947Ser						p.T947S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2904	+	Lung NSC(181;0.136)|all_lung(186;0.182)		947			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2840C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.823	-0.244331	0.05906	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.942	-0.333	0.12671	.	.	.	.	.	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.49062	-0.8978	9	0.08179	T	0.78	.	6.4664	0.21983	0.0:0.6919:0.3081:0.0	.	947	Q685J3	MUC17_HUMAN	S	947	ENSP00000302716:T947S	ENSP00000302716:T947S	T	+	2	0	MUC17	100464257	0.005000	0.15991	0.000000	0.03702	0.038000	0.13279	1.904000	0.39868	-0.070000	0.12908	0.134000	0.15878	ACT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		83	1397	0	0	0	1	0	83	1397					G	100677537	C	G	100677537	3	3	109	1	0	0	0	0	1	0	0	0	10015	565	20	5	2850	5	MUC17	7	100677537	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	212023	100677537	58461126	60	36286											
XPO7	23039	broad.mit.edu	37	chr8	21848376	21848376	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agtccaacctgacagacatgCggtgtcggactaccttctac	9	13	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:21848376C>T	ENST00000252512.9	+	18	2087	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	XPO7_ENST00000433566.4_Missense_Mutation_p.R664W|XPO7_ENST00000434536.1_Missense_Mutation_p.R672W	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	663					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)		GACAGACATGCGGTGTCGGAC	0.418																																						ENST00000434536.1																			0				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						c.(2014-2016)Cgg>Tgg		exportin 7							227	220	222					8																	21848376		1891	4115	6006	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21848376C>T	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.1987C>T	8.37:g.21848376C>T	ENSP00000252512:p.Arg663Trp					XPO7_ENST00000252512.9_Missense_Mutation_p.R663W|XPO7_ENST00000433566.4_Missense_Mutation_p.R664W	p.R672W			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	18	2116	+			663					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.2014C>T	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535254	0.64972	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.66995	-0.24;-0.24;-0.24	5.94	5.94	0.96194	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.87180	2.865	0.80722	D	1	P;P;P	0.43607	0.72;0.812;0.812	B;B;B	0.40038	0.168;0.317;0.317	T	0.78043	-0.2358	10	0.66056	D	0.02	-20.2986	14.7535	0.69546	0.1801:0.8199:0.0:0.0	.	664;672;663	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	W	672;663;664	ENSP00000404853:R672W;ENSP00000252512:R663W;ENSP00000410249:R664W	ENSP00000252512:R663W	R	+	1	2	XPO7	21904322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.574000	0.36482	2.819000	0.97034	0.650000	0.86243	CGG		0.418	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		7	902	0	0	0	1	0	7	902					T	21848376	C	T	21848376	3	4	109	1	0	0	0	0	1	0	0	0	17503	759	27	1	2109	1	XPO7	8	21848376	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		21848376	124515646	61	36287											
ESCO2	157570	broad.mit.edu	37	chr8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A													tgatgtagagactgtcagtgINSaaaaaaaaacttttgcgaca					rs80359854|rs80359853		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					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)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				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	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	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.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		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)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		9	275						9	275	---	---	---	---	A	27634577	-	A	27634576	7	5	109	1	0	1	1	0	0	0	0	0	5267	1291	45	0	757	0	ESCO2	8	27634576	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	5786200	27634576	118729446	62	36288											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		9	98	0	0	0	1	0	9	98					G	41790659	T	G	41790659	2	3	109	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08	14156083	41790659	104573363	63	36289											
SDCBP	6386	broad.mit.edu	37	chr8	59484848	59484848	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aatacgtgcaaatgtggccgTggtttctggtgcaccacttc	11	10	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:59484848T>C	ENST00000260130.4	+	4	365	c.215T>C	c.(214-216)gTg>gCg	p.V72A	SDCBP_ENST00000413219.2_Missense_Mutation_p.V72A|SDCBP_ENST00000422546.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447267.2_Missense_Mutation_p.V72A|SDCBP_ENST00000424270.2_Missense_Mutation_p.V66A|SDCBP_ENST00000447182.2_Missense_Mutation_p.V72A|SDCBP_ENST00000520168.1_Missense_Mutation_p.V72A|SDCBP_ENST00000523483.1_Missense_Mutation_p.V93A|SDCBP_ENST00000522243.1_3'UTR	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)	72					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)				AATGTGGCCGTGGTTTCTGGT	0.363																																						ENST00000523483.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(277-279)gTg>gCg		syndecan binding protein (syntenin)							132	142	138					8																	59484848		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59484848T>C	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.215T>C	8.37:g.59484848T>C	ENSP00000260130:p.Val72Ala					SDCBP_ENST00000424270.2_Missense_Mutation_p.V66A|SDCBP_ENST00000260130.4_Missense_Mutation_p.V72A|SDCBP_ENST00000413219.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447182.2_Missense_Mutation_p.V72A|SDCBP_ENST00000422546.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447267.2_Missense_Mutation_p.V72A|SDCBP_ENST00000520168.1_Missense_Mutation_p.V72A|SDCBP_ENST00000522243.1_3'UTR	p.V93A			O00560	SDCB1_HUMAN			5	1792	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	72					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.278T>C	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	T	2.468	-0.322502	0.05350	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.34859	2.84;2.78;2.78;2.84;2.82;2.76;2.77;1.34	5.44	5.44	0.79542	.	0.878949	0.10248	N	0.697502	T	0.32164	0.0820	N	0.24115	0.695	0.29452	N	0.858412	B;B;B;B	0.22541	0.0;0.071;0.0;0.0	B;B;B;B	0.31946	0.001;0.138;0.006;0.001	T	0.26503	-1.0101	9	.	.	.	0.0	15.7909	0.78364	0.0:0.0:0.0:1.0	.	72;93;66;72	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	A	72;72;72;72;66;93;72;72	ENSP00000260130:V72A;ENSP00000391687:V72A;ENSP00000409288:V72A;ENSP00000411771:V72A;ENSP00000395351:V66A;ENSP00000428184:V93A;ENSP00000430730:V72A;ENSP00000397820:V72A	.	V	+	2	0	SDCBP	59647402	1.000000	0.71417	0.014000	0.15608	0.004000	0.04260	6.386000	0.73186	2.183000	0.69458	0.533000	0.62120	GTG		0.363	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625		36	531	0	0	0	1	0	36	531					C	59484848	T	C	59484848	3	2	109	1	0	0	0	0	1	0	0	0	14005	1696	59	4	225	4	SDCBP	8	59484848	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08	17694189	59484848	86879174	64	36290											
FER1L6	654463	broad.mit.edu	37	chr8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggagagtggcctatgcccGcatcgcctccaaagacctcc	10	16	0	2	rs371597054		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	734						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)			GCCTATGCCCGCATCGCCTCC	0.527																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2200-2202)cGc>cAc		fer-1-like 6 (C. elegans)		G	HIS/ARG	0,3952		0,0,1976	100	103	102		2201	5.8	1	8		102	1,8321		0,1,4160	no	missense	FER1L6	NM_001039112.2	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	734/1858	125035751	1,12273	1976	4161	6137	SO:0001583	missense	654463					integral to membrane		g.chr8:125035751G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2201G>A	8.37:g.125035751G>A	ENSP00000428280:p.Arg734His					FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	p.R734H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2407	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		734						Missense_Mutation	SNP	ENST00000522917.1	37	c.2201G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971850	0.92919	0.0	1.2E-4	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79352	-1.26;-1.26	5.81	5.81	0.92471	Ferlin B-domain (1);	0.162857	0.34435	U	0.003970	D	0.89550	0.6747	M	0.91663	3.23	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	D	0.91017	0.4854	10	0.72032	D	0.01	.	12.8851	0.58038	0.0779:0.0:0.9221:0.0	.	734	Q2WGJ9	FR1L6_HUMAN	H	734	ENSP00000428280:R734H;ENSP00000381982:R734H	ENSP00000381982:R734H	R	+	2	0	FER1L6	125104932	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	9.072000	0.93986	2.751000	0.94390	0.555000	0.69702	CGC		0.527	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		6	403	0	0	0	1	0	6	403					A	125035751	G	A	125035751	3	1	109	1	0	0	0	0	1	0	0	0	5840	1087	38	1	2267	1	FER1L6	8	125035751	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	65550903	125035751	21328271	65	36291											
SLC45A4	57210	broad.mit.edu	37	chr8	142228865	142228865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgggtagtccagggccagctCgtgctccgactgtacctcgt	13	14	0	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:142228865C>T	ENST00000024061.3	-	4	1028	c.721G>A	c.(721-723)Gag>Aag	p.E241K	SLC45A4_ENST00000433583.2_Missense_Mutation_p.E234K|SLC45A4_ENST00000517878.1_Missense_Mutation_p.E292K|SLC45A4_ENST00000519067.1_Missense_Mutation_p.E241K	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)			AGGGCCAGCTCGTGCTCCGAC	0.701																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(721-723)Gag>Aag		solute carrier family 45, member 4							86	90	89					8																	142228865		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228865C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.721G>A	8.37:g.142228865C>T	ENSP00000024061:p.Glu241Lys					SLC45A4_ENST00000517878.1_Missense_Mutation_p.E292K|SLC45A4_ENST00000433583.2_Missense_Mutation_p.E234K|SLC45A4_ENST00000024061.3_Missense_Mutation_p.E241K	p.E241K			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1024	-	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)		292					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.721G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355746	0.61293	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15834	2.44;2.42;2.42;2.39	5.75	5.75	0.90469	.	0.057056	0.64402	D	0.000002	T	0.18676	0.0448	L	0.54323	1.7	0.39689	D	0.971018	B;B;B	0.33238	0.084;0.403;0.066	B;B;B	0.22601	0.016;0.04;0.023	T	0.03695	-1.1012	10	0.26408	T	0.33	-22.7247	20.0015	0.97412	0.0:1.0:0.0:0.0	.	292;241;241	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	K	241;292;234;241	ENSP00000429059:E241K;ENSP00000428137:E292K;ENSP00000400799:E234K;ENSP00000024061:E241K	ENSP00000024061:E241K	E	-	1	0	SLC45A4	142298047	0.997000	0.39634	1.000000	0.80357	0.545000	0.35147	3.460000	0.53028	2.731000	0.93534	0.555000	0.69702	GAG		0.701	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		57	785	0	0	0	1	0	57	785					T	142228865	C	T	142228865	3	4	109	1	0	0	0	0	1	0	0	0	14693	893	31	1	1695	1	SLC45A4	8	142228865	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	17193114	142228865	4135157	66	36292											
FOXD4	2298	broad.mit.edu	37	chr9	118004	118005	+	In_Frame_Ins	INS	-	-	CCTCGTCTTCCA													ctgctggctcgccgcctcctINScctcgtcttcatcttcctcc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:118004_118005insCCTCGTCTTCCA	ENST00000382500.2	-	1	412_413	c.115_116insTGGAAGACGAGG	c.(115-117)gag>gTGGAAGACGAGGag	p.38_39insVEDE		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	38					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)		CGCCGCCTCCTCCTCGTCTTCA	0.668																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(115-117)gga>TGGAAGACGAGGgga		forkhead box D4																																				SO:0001652	inframe_insertion	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:118004_118005insCCTCGTCTTCCA	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.115_116insTGGAAGACGAGG	9.37:g.118004_118005insCCTCGTCTTCCA	ENSP00000371940:p.Glu38_Glu39insValGluAspGlu						p.38_39insWKTR	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	412_413	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	38					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	In_Frame_Ins	INS	ENST00000382500.2	37	c.115_116insTGGAAGACGAGG	CCDS34975.1																																																																																				0.668	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		13	463						13	463	---	---	---	---	CCTCGTCTTCCA	118005	-	CCTCGTCTTCCA	118004	7	5	109	1	0	1	1	0	0	0	0	0	6024	1551	54	0	1207	0	FOXD4	9	118004	In_Frame_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08		118004	141095427	67	36293											
CDKN2A	1029	broad.mit.edu	37	chr9	21974760	21974760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgcacctcctctacccgacCccgggccgcggccgtggcca	11	22	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:21974760C>A	ENST00000304494.5	-	1	337	c.67G>T	c.(67-69)Ggt>Tgt	p.G23C	CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G23C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		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.G23S(1)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(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)		TCTACCCGACCCCGGGCCGCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1342	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.0?(1315)|p.?(23)|p.G23S(1)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|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)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM024657|CM056560|CM056561	CDKN2A	M		c.(67-69)Ggt>Tgt		cyclin-dependent kinase inhibitor 2A							15	21	19					9																	21974760		1886	3851	5737	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974760C>A	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.67G>T	9.37:g.21974760C>A	ENSP00000307101:p.Gly23Cys	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000494262.1_Intron	p.G23C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	337	-		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)	23		G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.67G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018113	0.93404	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.75154	-0.91;-0.91	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.90947	0.7154	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92856	0.6301	9	0.87932	D	0	.	10.8616	0.46829	0.0:0.9118:0.0:0.0882	.	23;23	P42771;G3XAG3	CD2A1_HUMAN;.	C	23	ENSP00000307101:G23C;ENSP00000394932:G23C	ENSP00000307101:G23C	G	-	1	0	CDKN2A	21964760	0.983000	0.35010	0.835000	0.33067	0.415000	0.31203	3.865000	0.56033	2.681000	0.91329	0.655000	0.94253	GGT		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	228	1	0	1.10923e-09	1	1.20814e-09	18	228					A	21974760	C	A	21974760	3	1	109	1	0	0	0	0	1	0	0	0	3170	623	22	3	616	3	CDKN2A	9	21974760	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	21856756	21974760	119238671	68	36294											
TMEM215	401498	broad.mit.edu	37	chr9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaacgagctgctgtgggtccGcaaattgccctgcttccgga	13	12	0	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597																																						ENST00000342743.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(232-234)cGc>cAc		transmembrane protein 215							85	76	79					9																	32784414		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784414G>A		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.233G>A	9.37:g.32784414G>A	ENSP00000345468:p.Arg78His						p.R78H	NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN			2	598	+			78					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.233G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843700	0.16963	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	4.28	0.50868	.	0.113770	0.38326	N	0.001736	T	0.31040	0.0784	N	0.19112	0.55	0.30856	N	0.734062	B	0.25169	0.119	B	0.17433	0.018	T	0.31530	-0.9940	9	0.56958	D	0.05	-16.3167	9.7196	0.40295	0.0963:0.0:0.9037:0.0	.	78	Q68D42	TM215_HUMAN	H	78	.	ENSP00000345468:R78H	R	+	2	0	TMEM215	32774414	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.258000	0.51507	1.184000	0.42957	-0.258000	0.10820	CGC		0.597	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558		6	466	0	0	0	1	0	6	466					A	32784414	G	A	32784414	3	1	109	1	0	0	0	0	1	0	0	0	16190	1087	38	1	235	1	TMEM215	9	32784414	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	10809654	32784414	108429017	69	36295											
CEL	1056	broad.mit.edu	37	chr9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-													agaggaatatcgcggccttcGggggggaccccaacaacatc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)gggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					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)		CGCGGCCTTCGGGGGGGACCC	0.642																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(613-615)ggfs		carboxyl ester lipase							95	106	102					9																	135941982		1941	4145	6086	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941982delG	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.613delG	9.37:g.135941982delG	ENSP00000361151:p.Gly206fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	p.G206fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	629	+			203					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.613delG	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			8	850						8	850	---	---	---	---	-	135941982	G	-	135941982	7	5	109	1	0	1	0	1	0	0	0	0	3218	1116	39	0	631	0	CEL	9	135941982	Frame_Shift_Del	DEL	G	TCGA-RB-AA9M-01A-11D-A397-08	103157568	135941982	5271449	70	36296											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-													tttattgcagatgacgacaaCccccccgtgtcttttgtgaa							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:137019598delC	ENST00000358625.3	+	10	813	c.642delC	c.(640-642)aacfs	p.N214fs	WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	214					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)				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)		ATGACGACAACCCCCCCGTGT	0.627																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(640-642)aafs		WD repeat domain 5							250	223	232					9																	137019598		2203	4300	6503	SO:0001589	frameshift_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137019598delC	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.642delC	9.37:g.137019598delC	ENSP00000351446:p.Asn214fs					WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		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)	10	813	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	214					Q91VA5|Q9NWX7|Q9UGP9	Frame_Shift_Del	DEL	ENST00000358625.3	37	c.642delC	CCDS6981.1																																																																																				0.627	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		8	1735						8	1735	---	---	---	---	-	137019598	C	-	137019598	7	5	109	1	0	1	0	1	0	0	0	0	17357	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Del	DEL	C	TCGA-RB-AA9M-01A-11D-A397-08	1077616	137019598	4193833	71	36297											
FCN1	2219	broad.mit.edu	37	chr9	137803031	137803031	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttgtacttctctgcctcGtcagccaccttgaatgattt	7	12	2	2	rs145090957		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:137803031G>A	ENST00000371806.3	-	8	772	c.681C>T	c.(679-681)gaC>gaT	p.D227D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	227	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCTCTGCCTCGTCAGCCACCT	0.547																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(679-681)gaC>gaT		ficolin (collagen/fibrinogen domain containing) 1		G		1,4405	2.1+/-5.4	0,1,2202	258	246	250		681	-6.7	0	9	dbSNP_134	250	0,8600		0,0,4300	no	coding-synonymous	FCN1	NM_002003.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		227/327	137803031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137803031G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.681C>T	9.37:g.137803031G>A							p.D227D	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	772	-		Myeloproliferative disorder(178;0.0333)	227			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.681C>T	CCDS6985.1																																																																																				0.547	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		70	1086	0	0	0	1	0	70	1086					A	137803031	G	A	137803031	2	1	109	1	0	0	0	0	0	0	0	1	5816	1136	40	1		1	FCN1	9	137803031	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	783433	137803031	3410400	72	36298											
DNAJC1	64215	broad.mit.edu	37	chr10	22208817	22208818	+	Frame_Shift_Ins	INS	-	-	T													ccacactcttgctgccagtcINSttttttttcttttctctctt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:22208817_22208818insT	ENST00000376980.3	-	5	868_869	c.578_579insA	c.(577-579)aagfs	p.K193fs		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	193					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)				TGCTGCCAGTCTTTTTTTTCTT	0.302																																						ENST00000376980.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21						c.(577-579)aacfs		DnaJ (Hsp40) homolog, subfamily C, member 1																																				SO:0001589	frameshift_variant	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22208817_22208818insT	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.579dupA	10.37:g.22208825_22208825dupT	ENSP00000366179:p.Lys193fs						p.N193fs	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN			5	868_869	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	193					B0YIZ8|Q5VX89|Q9H6B8	Frame_Shift_Ins	INS	ENST00000376980.3	37	c.578_579insA	CCDS7136.1																																																																																				0.302	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		8	634						8	634	---	---	---	---	T	22208818	-	T	22208817	7	5	109	1	0	1	1	0	0	0	0	0	4644	912	32	0	1117	0	DNAJC1	10	22208817	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08		22208817	113325930	73	36299											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	6	10	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:37486356G>C	ENST00000602533.1	+	29	2595	c.2496G>C	c.(2494-2496)aaG>aaC	p.K832N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K951N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888					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						AAATGCAAAAGTCTGTTCCAA	0.308																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2851-2853)aaG>aaC		ankyrin repeat domain 30A							87	78	81					10																	37486356		1801	4060	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486356G>C	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.2496G>C	10.37:g.37486356G>C	ENSP00000473551:p.Lys832Asn					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N	p.K951N			Q9BXX3	AN30A_HUMAN			35	2952	+			1000					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2853G>C		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	686	0	0	0	1	0	9	686					C	37486356	G	C	37486356	3	2	109	1	0	0	0	0	1	0	0	0	658	1020	36	5	2610	5	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	15277539	37486356	98048391	74	36300											
RASSF4	83937	broad.mit.edu	37	chr10	45467292	45467292	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcttccagctgagacaccGtgaggtgagcctgttgctct	13	11	1	3	rs61759871		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:45467292G>A	ENST00000340258.5	+	3	247	c.134G>A	c.(133-135)cGt>cAt	p.R45H	RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Missense_Mutation_p.R45H	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGAGACACCGTGAGGTGAGC	0.522																																						ENST00000340258.4																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(133-135)cGt>cAt		Ras association (RalGDS/AF-6) domain family member 4		G	HIS/ARG	0,4406		0,0,2203	179	133	148		134	5.3	1	10	dbSNP_129	148	3,8597	3.0+/-9.4	0,3,4297	no	missense	RASSF4	NM_032023.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	45/322	45467292	3,13003	2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45467292G>A	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.134G>A	10.37:g.45467292G>A	ENSP00000339692:p.Arg45His					RASSF4_ENST00000374417.2_Missense_Mutation_p.R45H|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_3'UTR|C10orf10_ENST00000496638.1_Intron	p.R45H	NM_032023.3	NP_114412.2	Q9H2L5	RASF4_HUMAN			3	247	+			45					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.134G>A	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792072	0.70452	0.0	3.49E-4	ENSG00000107551	ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T	0.29397	1.57;2.37;1.57;1.57	5.27	5.27	0.74061	.	0.312435	0.30446	N	0.009610	T	0.28896	0.0717	L	0.49640	1.575	0.80722	D	1	B;B	0.28208	0.203;0.026	B;B	0.21151	0.033;0.008	T	0.03684	-1.1013	10	0.40728	T	0.16	-8.1958	14.7643	0.69626	0.0:0.0:1.0:0.0	rs61759871	136;45	Q59FL4;Q9H2L5	.;RASF4_HUMAN	H	45;45;45;45;38;136	ENSP00000363538:R45H;ENSP00000339692:R45H;ENSP00000409767:R45H;ENSP00000413468:R38H	ENSP00000339692:R45H	R	+	2	0	RASSF4	44787298	0.999000	0.42202	0.999000	0.59377	0.615000	0.37417	2.358000	0.44134	2.632000	0.89209	0.655000	0.94253	CGT		0.522	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		17	222	0	0	0	1	0	17	222					A	45467292	G	A	45467292	3	1	109	1	0	0	0	0	1	0	0	0	13138	1145	40	1	140	1	RASSF4	10	45467292	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	7980936	45467292	90067455	75	36301											
HK1	3098	broad.mit.edu	37	chr10	71103607	71103607	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acaagtatctctatgccatgCggctctccgatgaaactctc	7	13	3	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:71103607C>T	ENST00000359426.6	+	2	192	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	HK1_ENST00000448642.2_Missense_Mutation_p.R65W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R18W|HK1_ENST00000298649.3_Missense_Mutation_p.R29W|HK1_ENST00000404387.2_Missense_Mutation_p.R34W	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	30	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R34W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTATGCCATGCGGCTCTCCGA	0.527																																						ENST00000448642.2																			1	Substitution - Missense(1)	p.R34W(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(193-195)Cgg>Tgg		hexokinase 1							162	155	158					10																	71103607		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71103607C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.88C>T	10.37:g.71103607C>T	ENSP00000352398:p.Arg30Trp					HK1_ENST00000298649.3_Missense_Mutation_p.R29W|HK1_ENST00000359426.6_Missense_Mutation_p.R30W|HK1_ENST00000404387.2_Missense_Mutation_p.R34W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.R18W	p.R65W			P19367	HXK1_HUMAN			7	582	+			30			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.193C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422830	0.83559	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.31	3.36	0.38483	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	M	0.71581	2.175	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.999;1.0;1.0;0.954	D;D;D;D;B	0.73380	0.964;0.972;0.98;0.967;0.127	D	0.98141	1.0436	10	0.49607	T	0.09	-2.347	13.9312	0.63996	0.2775:0.7225:0.0:0.0	.	30;29;65;34;18	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	W	34;18;65;18;34;29;29;30;30	ENSP00000409761:R34W;ENSP00000353433:R18W;ENSP00000402103:R65W;ENSP00000398316:R18W;ENSP00000384774:R34W;ENSP00000415949:R29W;ENSP00000298649:R29W;ENSP00000352398:R30W	ENSP00000298649:R29W	R	+	1	2	HK1	70773613	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.696000	0.68287	0.547000	0.28938	0.655000	0.94253	CGG		0.527	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	NM_000188		6	693	0	0	0	1	0	6	693					T	71103607	C	T	71103607	3	4	109	1	0	0	0	0	1	0	0	0	7220	759	27	1	272	1	HK1	10	71103607	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	25636315	71103607	64431140	76	36302											
C10orf90	118611	broad.mit.edu	37	chr10	128147750	128147750	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cttcagccgttcttgtgagcGagaaatgaactgaggcttac	11	9	2	4			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:128147750G>A	ENST00000284694.7	-	6	1876	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	C10orf90_ENST00000544758.1_Missense_Mutation_p.R683C|C10orf90_ENST00000454341.1_Missense_Mutation_p.R489C|C10orf90_ENST00000356858.3_Missense_Mutation_p.R539C|C10orf90_ENST00000480379.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	586	ALMS motif. {ECO:0000250}.				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)		TCTTGTGAGCGAGAAATGAAC	0.498																																						ENST00000284694.7																			0				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						c.(1756-1758)Cgc>Tgc		chromosome 10 open reading frame 90							162	137	145					10																	128147750		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128147750G>A	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.1756C>T	10.37:g.128147750G>A	ENSP00000284694:p.Arg586Cys					C10orf90_ENST00000544758.1_Missense_Mutation_p.R683C|C10orf90_ENST00000356858.3_Missense_Mutation_p.R539C|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.R489C	p.R586C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	1876	-		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)	586					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1756C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160951	0.78226	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.29917	1.7;1.81;1.74;1.55	5.01	5.01	0.66863	.	0.000000	0.43919	D	0.000518	T	0.53965	0.1829	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.56475	-0.7973	10	0.87932	D	0	-27.713	15.1753	0.72907	0.0:0.0:1.0:0.0	.	683;586;489	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	C	539;586;489;683;586	ENSP00000284694:R586C;ENSP00000398786:R489C;ENSP00000444369:R683C;ENSP00000405995:R586C	ENSP00000284694:R586C	R	-	1	0	C10orf90	128137740	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.049000	0.71053	2.595000	0.87683	0.655000	0.94253	CGC		0.498	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		24	453	0	0	0	1	0	24	453					A	128147750	G	A	128147750	3	1	109	1	0	0	0	0	1	0	0	0	1628	1058	37	1	359	1	C10orf90	10	128147750	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	57044143	128147750	7386997	77	36303											
MKI67	4288	broad.mit.edu	37	chr10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcctgctggtttgggcGtaagcatggctttccctgct	11	13	0	0	rs117795868		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	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)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.001		0.0	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292	278	283					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	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.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met					MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	3902	-		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)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	1012	0	0	0	1	0	6	1012					A	129906577	G	A	129906577	3	1	109	1	0	0	0	0	1	0	0	0	9639	1145	40	1	6255	1	MKI67	10	129906577	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	1758827	129906577	5628170	78	36304											
DENND5A	23258	broad.mit.edu	37	chr11	9167317	9167317	+	Frame_Shift_Del	DEL	C	C	-													ggttggcagtgaacatggagCcccccagcttcttgcttggt							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:9167317delC	ENST00000328194.3	-	17	3223	c.2903delG	c.(2902-2904)ggcfs	p.G968fs	DENND5A_ENST00000530044.1_Frame_Shift_Del_p.G968fs|DENND5A_ENST00000527700.1_Frame_Shift_Del_p.G311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAACATGGAGCCCCCCAGCTT	0.478																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2902-2904)gcfs		DENN/MADD domain containing 5A							292	284	287					11																	9167317		2201	4296	6497	SO:0001589	frameshift_variant	23258							g.chr11:9167317delC	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2903delG	11.37:g.9167317delC	ENSP00000328524:p.Gly968fs					DENND5A_ENST00000527700.1_Frame_Shift_Del_p.G311fs|DENND5A_ENST00000530044.1_Frame_Shift_Del_p.G968fs	p.G968fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			17	3223	-			968			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Frame_Shift_Del	DEL	ENST00000328194.3	37	c.2903delG	CCDS31423.1																																																																																				0.478	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		8	1828						8	1828	---	---	---	---	-	9167317	C	-	9167317	7	5	109	1	0	1	0	1	0	0	0	0	4452	739	26	0	988	0	DENND5A	11	9167317	Frame_Shift_Del	DEL	C	TCGA-RB-AA9M-01A-11D-A397-08		9167317	125839199	79	36305											
CSTF3	1479	broad.mit.edu	37	chr11	33120306	33120306	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaccttttcatacttcatgCgactctaaggtggtacagaa	8	9	3	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:33120306C>T	ENST00000323959.4	-	13	1197	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATACTTCATGCGACTCTAAGG	0.398																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1057-1059)cGc>cAc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							174	182	179					11																	33120306		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33120306C>T	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1058G>A	11.37:g.33120306C>T	ENSP00000315791:p.Arg353His					TCP11L1_ENST00000324357.9_Intron	p.R353H	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			13	1197	-			353					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1058G>A	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599320	0.66332	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.35421	1.31	5.71	4.79	0.61399	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.84846	2.72	0.80722	D	1	P	0.46457	0.878	B	0.32980	0.156	T	0.55667	-0.8105	10	0.54805	T	0.06	.	15.992	0.80214	0.1358:0.8642:0.0:0.0	.	353	Q12996	CSTF3_HUMAN	H	353;286	ENSP00000315791:R353H	ENSP00000315791:R353H	R	-	2	0	CSTF3	33076882	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.813000	0.86123	1.394000	0.46624	0.650000	0.86243	CGC		0.398	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		5	677	0	0	0	1	0	5	677					T	33120306	C	T	33120306	3	4	109	1	0	0	0	0	1	0	0	0	3997	768	27	1	1131	1	CSTF3	11	33120306	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	23952989	33120306	101886210	80	36306											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						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						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201	193	196					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		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.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	1219						8	1219	---	---	---	---	-	35513670	C	-	35513670	7	5	109	1	0	1	0	1	0	0	0	0	11455	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-RB-AA9M-01A-11D-A397-08	2393364	35513670	99492846	81	36307											
DDB2	1643	broad.mit.edu	37	chr11	47259552	47259552	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaatcttctggcatcagttcGgtgaggcttgggtcctcaaa	12	9	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:47259552G>A	ENST00000256996.4	+	8	1383	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332S|DDB2_ENST00000378600.3_Splice_Site_p.S207S	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	396					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GCATCAGTTCGGTGAGGCTTG	0.463			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000256996.4			yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"Mis, N"	damage-specific DNA binding protein 2			E		"skin basal cell, skin squamous cell, melanoma"			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.e8+1	Direct reversal of damage;Nucleotide excision repair (NER)	damage-specific DNA binding protein 2, 48kDa							87	73	78					11																	47259552		2201	4298	6499	SO:0001630	splice_region_variant	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47259552G>A		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1188+1G>A	11.37:g.47259552G>A						DDB2_ENST00000378600.3_Splice_Site_p.S207_splice|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332_splice	p.S396_splice	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN			8	1383	+			396					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Splice_Site	SNP	ENST00000256996.4	37	c.1188_splice	CCDS7927.1																																																																																				0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000107	Silent	9	253	0	0	0	1	0	9	253					A	47259552	G	A	47259552	5	1	109	1	0	0	0	0	0	0	1	0	4335	1130	39	1	1218	1	DDB2	11	47259552	Splice_Site	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	11745882	47259552	87746964	82	36308											
SF3B2	10992	broad.mit.edu	37	chr11	65820570	65820570	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccacctcccatgtcgGcacaggtagggagattcttc	10	15	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:65820570G>A	ENST00000322535.6	+	3	302	c.253G>A	c.(253-255)Gca>Aca	p.A85T	snoU13_ENST00000459530.1_RNA|SF3B2_ENST00000528302.1_Missense_Mutation_p.A85T	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	85					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCCATGTCGGCACAGGTAGG	0.493																																						ENST00000528302.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(253-255)Gca>Aca		splicing factor 3b, subunit 2, 145kDa							142	148	146					11																	65820570		2201	4296	6497	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65820570G>A	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.253G>A	11.37:g.65820570G>A	ENSP00000318861:p.Ala85Thr					SF3B2_ENST00000322535.6_Missense_Mutation_p.A85T	p.A85T			Q13435	SF3B2_HUMAN			3	307	+			85					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.253G>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059249	0.36373	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000355456;ENST00000530322;ENST00000524475	.	.	.	4.55	3.64	0.41730	.	0.317215	0.34291	N	0.004088	T	0.38878	0.1057	N	0.08118	0	0.30748	N	0.745392	D;D	0.57571	0.98;0.98	D;P	0.68192	0.956;0.811	T	0.36529	-0.9744	9	0.52906	T	0.07	-5.6862	8.6598	0.34086	0.1041:0.0:0.8959:0.0	.	85;85	Q13435;E9PJ04	SF3B2_HUMAN;.	T	85;85;85;85;87;80;3	.	ENSP00000318861:A85T	A	+	1	0	SF3B2	65577146	0.997000	0.39634	0.994000	0.49952	0.846000	0.48090	5.333000	0.65917	1.270000	0.44297	0.655000	0.94253	GCA		0.493	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			6	771	0	0	0	1	0	6	771					A	65820570	G	A	65820570	3	1	109	1	0	0	0	0	1	0	0	0	14201	1203	42	2	263	2	SF3B2	11	65820570	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	18561018	65820570	69185946	83	36309											
BCL9L	283149	broad.mit.edu	37	chr11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-													caggcacttcatgctccagcGgggggccccctaggctctgt					rs147951163	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	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)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				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						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50	62	58			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	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.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	867						7	867	---	---	---	---	-	118773004	G	-	118773004	7	5	109	1	0	1	0	1	0	0	0	0	1383	1116	39	0	3063	0	BCL9L	11	118773004	Frame_Shift_Del	DEL	G	TCGA-RB-AA9M-01A-11D-A397-08	52952434	118773004	16233512	84	36310											
C2CD2L	9854	broad.mit.edu	37	chr11	118984833	118984833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctatccctgggctatgCggcatccctggaagcctcag	13	14	1	0	rs201072240	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:118984833C>T	ENST00000528586.1	+	9	981	c.911C>T	c.(910-912)gCg>gTg	p.A304V	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A557V			O14523	C2C2L_HUMAN	C2CD2-like	556						integral component of membrane (GO:0016021)		p.A557V(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTGGGCTATGCGGCATCCCTG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18524	0.001		0.0	False		,,,				2504	0.001					ENST00000336702.3																			2	Substitution - Missense(2)	p.A557V(2)	large_intestine(1)|prostate(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1669-1671)gCg>gTg		C2CD2-like							109	110	109					11																	118984833		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984833C>T	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.911C>T	11.37:g.118984833C>T	ENSP00000433600:p.Ala304Val					C2CD2L_ENST00000528586.1_Missense_Mutation_p.A304V	p.A557V	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			13	2029	+			556					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1670C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.6	4.548263	0.86127	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.49432	0.78;0.78	5.11	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.61703	1.905	0.48135	D	0.999593	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59490	-0.7445	10	0.46703	T	0.11	1.7815	9.4646	0.38804	0.1429:0.7824:0.0:0.0747	.	556;557	O14523;O14523-2	C2C2L_HUMAN;.	V	557;304	ENSP00000338885:A557V;ENSP00000433600:A304V	ENSP00000338885:A557V	A	+	2	0	C2CD2L	118490043	0.996000	0.38824	0.983000	0.44433	0.991000	0.79684	3.316000	0.51960	0.813000	0.34350	0.655000	0.94253	GCG		0.612	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		6	654	0	0	0	1	0	6	654					T	118984833	C	T	118984833	3	4	109	1	0	0	0	0	1	0	0	0	2160	768	27	1	1720	1	C2CD2L	11	118984833	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	211829	118984833	16021683	85	36311											
CLEC12A	160364	broad.mit.edu	37	chr12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagctccctctcatgtatggCgtccagcagccttgtttctg	9	14	2	0	rs141455664		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16812	0.0		0.0	False		,,,				2504	0.0				Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(118-120)Cgt>Tgt		C-type lectin domain family 12, member A		C	CYS/ARG,CYS/ARG,	0,4406		0,0,2203	207	192	197		148,118,	2.7	0	12	dbSNP_134	197	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,intron	CLEC12A	NM_001207010.1,NM_138337.5,NM_201623.3	180,180,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,	50/276,40/266,	10131591	2,13004	2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10131591C>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.118C>T	12.37:g.10131591C>T	ENSP00000302804:p.Arg40Cys					CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000350667.4_Intron	p.R40C	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			2	300	+			40					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.118C>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584844	0.28268	0.0	2.33E-4	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319	T;T;T;T	0.09163	4.41;3.01;4.43;3.88	4.58	2.69	0.31865	.	.	.	.	.	T	0.13586	0.0329	M	0.84219	2.685	0.19945	N	0.999945	B;B	0.33549	0.293;0.417	B;B	0.25759	0.029;0.063	T	0.15178	-1.0446	9	0.44086	T	0.13	.	6.7049	0.23244	0.0:0.718:0.1808:0.1011	.	40;50	Q5QGZ9;Q5QGZ9-1	CL12A_HUMAN;.	C	50;40;40;40	ENSP00000347916:R50C;ENSP00000379764:R40C;ENSP00000302804:R40C;ENSP00000405244:R40C	ENSP00000302804:R40C	R	+	1	0	CLEC12A	10022858	0.025000	0.19082	0.018000	0.16275	0.008000	0.06430	0.136000	0.15974	0.591000	0.29711	0.650000	0.86243	CGT		0.433	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		29	404	0	0	0	1	0	29	404					T	10131591	C	T	10131591	3	4	109	1	0	0	0	0	1	0	0	0	3506	768	27	1	124	1	CLEC12A	12	10131591	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		10131591	123720304	86	36312											
PRB1	5542	broad.mit.edu	37	chr12	11506765	11506765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtggttttcctggaggagatCggggacttcgggacttgtcc	16	8	0	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:11506765C>T	ENST00000500254.2	-	3	309	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	PRB1_ENST00000545626.1_Missense_Mutation_p.R91Q|PRB1_ENST00000546254.1_Missense_Mutation_p.R91Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	152	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATCGGGGACTTCG	0.612																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(271-273)cGa>cAa		proline-rich protein BstNI subfamily 1							173	216	201					12																	11506765		2163	4276	6439	SO:0001583	missense	5542					extracellular region		g.chr12:11506765C>T		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.272G>A	12.37:g.11506765C>T	ENSP00000420826:p.Arg91Gln					PRB1_ENST00000545626.1_Missense_Mutation_p.R91Q|PRB1_ENST00000546254.1_Missense_Mutation_p.R91Q	p.R91Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	309	-			274			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].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.272G>A	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	3.627	-0.076293	0.07184	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.04551	3.81;3.6;3.6	0.79	-1.58	0.08479	.	.	.	.	.	T	0.02047	0.0064	N	0.04508	-0.205	0.19300	N	0.99998	B;B;B	0.21452	0.056;0.056;0.056	B;B;B	0.06405	0.002;0.002;0.002	T	0.43718	-0.9374	9	0.45353	T	0.12	.	4.1057	0.10035	0.0:0.2519:0.501:0.2471	.	98;91;91	Q86YA1;G3V1R1;G3V1M9	.;.;.	Q	91	ENSP00000444249:R91Q;ENSP00000420826:R91Q;ENSP00000442127:R91Q	ENSP00000420826:R91Q	R	-	2	0	PRB1	11398032	0.565000	0.26610	0.010000	0.14722	0.041000	0.13682	0.481000	0.22260	-0.792000	0.04480	-0.539000	0.04255	CGA		0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		63	1049	0	0	0	1	0	63	1049					T	11506765	C	T	11506765	3	4	109	1	0	0	0	0	1	0	0	0	12489	884	31	1	727	1	PRB1	12	11506765	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	1375174	11506765	122345130	87	36313											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		18	311	1	0	3.32936e-07	1	3.58063e-07	18	311					A	25398284	C	A	25398284	3	1	109	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	13891519	25398284	108453611	88	36314											
KRT72	140807	broad.mit.edu	37	chr12	52994873	52994873	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcccgctcctgggcgcGcaccctctggatctcggggt	13	17	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:52994873G>A	ENST00000537672.2	-	1	374	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	KRT72_ENST00000293745.2_Missense_Mutation_p.R122C|KRT72_ENST00000354310.4_Missense_Mutation_p.R122C|KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	122	Head.					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)		TCCTGGGCGCGCACCCTCTGG	0.647																																						ENST00000293745.2																			0				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						c.(364-366)Cgc>Tgc		keratin 72							118	105	109					12																	52994873		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52994873G>A	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.364C>T	12.37:g.52994873G>A	ENSP00000441160:p.Arg122Cys					KRT72_ENST00000537672.2_Missense_Mutation_p.R122C|KRT72_ENST00000354310.4_Missense_Mutation_p.R122C|KRT72_ENST00000398066.3_5'UTR	p.R122C	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	1	449	-			122			Head.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.364C>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976263	0.53720	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310	T;T;T	0.78595	-1.19;-1.19;-1.19	4.48	4.48	0.54585	.	0.000000	0.52532	D	0.000076	T	0.74183	0.3683	M	0.67397	2.05	0.80722	D	1	P;P	0.35684	0.515;0.515	B;B	0.30572	0.117;0.117	T	0.78280	-0.2265	10	0.62326	D	0.03	.	14.9789	0.71296	0.0:0.0:0.8569:0.1431	.	122;122	B4DEI8;Q14CN4	.;K2C72_HUMAN	C	122	ENSP00000441160:R122C;ENSP00000293745:R122C;ENSP00000346269:R122C	ENSP00000293745:R122C	R	-	1	0	KRT72	51281140	0.722000	0.28017	0.999000	0.59377	0.950000	0.60333	2.575000	0.46025	2.777000	0.95525	0.555000	0.69702	CGC		0.647	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		5	377	0	0	0	1	0	5	377					A	52994873	G	A	52994873	3	1	109	1	0	0	0	0	1	0	0	0	8515	1087	38	1	1207	1	KRT72	12	52994873	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	27596589	52994873	80857022	89	36315											
HVCN1	84329	broad.mit.edu	37	chr12	111088053	111088053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaccttaagagttgccGttctgaacgtgtcttaactg	8	8	2	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:111088053G>A	ENST00000356742.5	-	6	1429	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	HVCN1_ENST00000242607.8_Missense_Mutation_p.R226W|HVCN1_ENST00000548312.1_Missense_Mutation_p.R226W|HVCN1_ENST00000439744.2_Missense_Mutation_p.R206W			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	226					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						AAGAGTTGCCGTTCTGAACGT	0.398																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(676-678)Cgg>Tgg		hydrogen voltage-gated channel 1							168	148	155					12																	111088053		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111088053G>A	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.676C>T	12.37:g.111088053G>A	ENSP00000349181:p.Arg226Trp					HVCN1_ENST00000242607.8_Missense_Mutation_p.R226W|HVCN1_ENST00000548312.1_Missense_Mutation_p.R226W|HVCN1_ENST00000439744.2_Missense_Mutation_p.R206W	p.R226W			Q96D96	HVCN1_HUMAN			6	1429	-			226					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.676C>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980869	0.53827	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	T;T;T;T	0.50813	0.73;0.75;0.75;0.75	6.17	4.31	0.51392	.	0.308268	0.36409	N	0.002616	T	0.64768	0.2628	M	0.76574	2.34	0.32053	N	0.596686	B;D	0.76494	0.068;0.999	B;P	0.60886	0.019;0.88	T	0.74870	-0.3517	10	0.87932	D	0	-25.0411	13.9148	0.63890	0.0:0.0:0.7229:0.2771	.	226;226	Q96D96;Q96D96-3	HVCN1_HUMAN;.	W	226;226;226;206	ENSP00000449601:R226W;ENSP00000242607:R226W;ENSP00000349181:R226W;ENSP00000412052:R206W	ENSP00000242607:R226W	R	-	1	2	HVCN1	109572436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.967000	0.49216	0.882000	0.36016	-0.182000	0.12963	CGG		0.398	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		5	405	0	0	0	1	0	5	405					A	111088053	G	A	111088053	3	1	109	1	0	0	0	0	1	0	0	0	7492	1144	40	1	153	1	HVCN1	12	111088053	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	58093180	111088053	22763842	90	36316											
RNF17	56163	broad.mit.edu	37	chr13	25435469	25435469	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatctttaccctattttgCtgtatcctgatataccccag	5	13	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:25435469C>T	ENST00000255324.5	+	27	3890	c.3838C>T	c.(3838-3840)Ctg>Ttg	p.L1280L	RNF17_ENST00000339524.3_Silent_p.L332L|RNF17_ENST00000381921.1_Silent_p.L1280L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1280	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCCTATTTTGCTGTATCCTGA	0.318																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3838-3840)Ctg>Ttg		ring finger protein 17							205	206	206					13																	25435469		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25435469C>T	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.3838C>T	13.37:g.25435469C>T						RNF17_ENST00000339524.3_Silent_p.L332L|RNF17_ENST00000381921.1_Silent_p.L1280L	p.L1280L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	27	3890	+		Lung SC(185;0.0225)|Breast(139;0.077)	1280			Tudor 3.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.3838C>T	CCDS9308.2																																																																																				0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		46	959	0	0	0	1	0	46	959					T	25435469	C	T	25435469	2	4	109	1	0	0	0	0	0	0	0	1	13511	796	28	2		2	RNF17	13	25435469	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		25435469	89734409	91	36317											
HMGB1	3146	broad.mit.edu	37	chr13	31035512	31035512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acttattcatcatcatcatcTtcttcttcatcttcatcttc	0	13	11	0	rs200836895	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:31035512T>A	ENST00000405805.1	-	5	1570	c.630A>T	c.(628-630)gaA>gaT	p.E210D	HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000468384.1_5'Flank			P09429	HMGB1_HUMAN	high mobility group box 1	210	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CATCAtcatcttcttcttcat	0.378													T|||	6	0.00119808	0.003	0.0	5008	,	,		18295	0.0		0.0	False		,,,				2504	0.002					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(628-630)gaA>gaT		high mobility group box 1							20	25	23					13																	31035512		1894	4135	6029	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035512T>A	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.630A>T	13.37:g.31035512T>A	ENSP00000384678:p.Glu210Asp					HMGB1_ENST00000341423.5_Missense_Mutation_p.E210D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E210D|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_Missense_Mutation_p.E210D	p.E210D			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1570	-		Lung SC(185;0.0257)	210			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.630A>T	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336740	0.41398	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.68	-1.58	0.08479	Armadillo-like helical (1);	0.305542	0.22770	N	0.055856	T	0.33440	0.0863	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	0.02901	-1.1096	10	0.87932	D	0	.	4.5078	0.11896	0.474:0.2443:0.0:0.2817	.	171;210	B3KQ05;P09429	.;HMGB1_HUMAN	D	210	ENSP00000384678:E210D;ENSP00000343040:E210D;ENSP00000345347:E210D;ENSP00000382417:E210D	ENSP00000343040:E210D	E	-	3	2	HMGB1	29933512	0.999000	0.42202	0.997000	0.53966	0.995000	0.86356	0.152000	0.16302	-0.149000	0.11215	-0.276000	0.10085	GAA		0.378	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		8	184	0	0	0	1	0	8	184					A	31035512	T	A	31035512	3	1	109	1	0	0	0	0	1	0	0	0	7255	1606	56	5	21	5	HMGB1	13	31035512	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08	5600043	31035512	84134366	92	36318											
ZIC5	85416	broad.mit.edu	37	chr13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaattctaatgtatcgtccGcacaacttcagggttcccgt	7	11	2	0	rs577823767		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	660					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)					TGTATCGTCCGCACAACTTCA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13720	0.0		0.0	False		,,,				2504	0.0					ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1978-1980)Cgg>Tgg		Zic family member 5							66	66	66					13																	100617645		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617645G>A	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.1978C>T	13.37:g.100617645G>A	ENSP00000267294:p.Arg660Trp						p.R660W	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2211	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		660					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1978C>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556755	0.65425	.	.	ENSG00000139800	ENST00000267294	T	0.18016	2.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.29321	0.0730	L	0.36672	1.1	0.35097	D	0.764889	D	0.89917	1.0	D	0.69654	0.965	T	0.18335	-1.0340	9	0.87932	D	0	.	11.1163	0.48262	0.0:0.0:0.7346:0.2654	.	660	Q96T25	ZIC5_HUMAN	W	660	ENSP00000267294:R660W	ENSP00000267294:R660W	R	-	1	2	ZIC5	99415646	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	2.915000	0.48805	2.871000	0.98454	0.655000	0.94253	CGG		0.483	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		5	434	0	0	0	1	0	5	434					A	100617645	G	A	100617645	3	1	109	1	0	0	0	0	1	0	0	0	17735	1086	38	1	17	1	ZIC5	13	100617645	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	69582133	100617645	14552233	93	36319											
COL4A1	1282	broad.mit.edu	37	chr13	110822921	110822921	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccaggctggccctgaggtcCgcggtctcctttgggcccct	14	16	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:110822921C>T	ENST00000375820.4	-	42	3836	c.3715G>A	c.(3715-3717)Gga>Aga	p.G1239R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1239	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTGAGGTCCGCGGTCTCCT	0.627																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3715-3717)Gga>Aga		collagen, type IV, alpha 1																																				SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110822921C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"Collagens"	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3715G>A	13.37:g.110822921C>T	ENSP00000364979:p.Gly1239Arg						p.G1239R	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		42	3836	-	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)	1239			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3715G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862753	0.91511	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99637	-6.29	4.79	4.79	0.61399	.	0.057832	0.64402	D	0.000002	D	0.99813	0.9918	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96593	0.9439	10	0.87932	D	0	.	17.9168	0.88954	0.0:1.0:0.0:0.0	.	1239	P02462	CO4A1_HUMAN	R	882;1239;888	ENSP00000364979:G1239R	ENSP00000364973:G882R	G	-	1	0	COL4A1	109620922	1.000000	0.71417	0.541000	0.28102	0.929000	0.56500	7.171000	0.77595	2.198000	0.70561	0.650000	0.86243	GGA		0.627	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			4	101	0	0	0	1	0	4	101					T	110822921	C	T	110822921	3	4	109	1	0	0	0	0	1	0	0	0	3698	661	23	1	1338	1	COL4A1	13	110822921	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	10205276	110822921	4346957	94	36320											
POTEM	641455	broad.mit.edu	37	chr14	20019999	20019999	+	Frame_Shift_Del	DEL	C	C	-													cccacgttgctcttgccgctCcccctgcaccaggggaagca							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:20019999delC	ENST00000551509.1	-	1	273	c.222delG	c.(220-222)gggfs	p.G74fs		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	74										endometrium(4)|kidney(1)|lung(4)	9						TCTTGCCGCTCCCCCTGCACC	0.587																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(220-222)ggfs		POTE ankyrin domain family, member M							11	21	19					14																	20019999		316	1135	1451	SO:0001589	frameshift_variant	641455							g.chr14:20019999delC		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.222delG	14.37:g.20019999delC	ENSP00000452296:p.Gly74fs						p.G74fs	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	273	-			74						Frame_Shift_Del	DEL	ENST00000551509.1	37	c.222delG	CCDS45076.1																																																																																				0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		7	2845						7	2845	---	---	---	---	-	20019999	C	-	20019999	7	5	109	1	0	1	0	1	0	0	0	0	12310	842	30	0	1344	0	POTEM	14	20019999	Frame_Shift_Del	DEL	C	TCGA-RB-AA9M-01A-11D-A397-08		20019999	87329541	95	36321											
MYH6	4624	broad.mit.edu	37	chr14	23866789	23866789	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggaaggatgagcccTttttcttgcctcctttgctt	9	12	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:23866789T>C	ENST00000356287.3	-	15	1954	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	MYH6_ENST00000405093.3_Missense_Mutation_p.K642R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	642	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)		GGATGAGCCCTTTTTCTTGCC	0.557																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1924-1926)aAg>aGg		myosin, heavy chain 6, cardiac muscle, alpha							98	93	95					14																	23866789		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866789T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1925A>G	14.37:g.23866789T>C	ENSP00000348634:p.Lys642Arg					MYH6_ENST00000356287.3_Missense_Mutation_p.K642R	p.K642R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	16	1995	-	all_cancers(95;2.54e-05)		642			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1925A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	25.8	4.674282	0.88445	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87571	-2.27;-2.27	4.27	4.27	0.50696	Myosin head, motor domain (2);	.	.	.	.	D	0.90393	0.6993	L	0.45470	1.425	0.58432	D	0.99999	D	0.58620	0.983	D	0.77557	0.99	D	0.90416	0.4413	9	0.49607	T	0.09	.	13.4865	0.61369	0.0:0.0:0.0:1.0	.	642	P13533	MYH6_HUMAN	R	642	ENSP00000386041:K642R;ENSP00000348634:K642R	ENSP00000348634:K642R	K	-	2	0	MYH6	22936629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	1.933000	0.56026	0.533000	0.62120	AAG		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	643	0	0	0	1	0	5	643					C	23866789	T	C	23866789	3	2	109	1	0	0	0	0	1	0	0	0	10079	1609	56	4	3990	4	MYH6	14	23866789	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08	3846790	23866789	83482751	96	36322											
ADCY4	196883	broad.mit.edu	37	chr14	24788372	24788372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttagaccccagggccacgGcaaattccaccatagtgcca	9	15	0	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:24788372G>A	ENST00000310677.4	-	24	3001	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V	ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V|ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	963					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|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)		CAGGGCCACGGCAAATTCCAC	0.592																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2887-2889)gCc>gTc		adenylate cyclase 4							126	122	123					14																	24788372		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788372G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2888C>T	14.37:g.24788372G>A	ENSP00000312126:p.Ala963Val					ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V|ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V	p.A963V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	24	3001	-			963					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2888C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662559	0.67700	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.58210	0.35;0.35;0.35	4.79	4.79	0.61399	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.151368	0.30840	N	0.008774	T	0.60843	0.2300	M	0.90082	3.085	0.80722	D	1	P	0.39624	0.681	B	0.36378	0.223	T	0.72308	-0.4332	10	0.72032	D	0.01	.	15.3891	0.74729	0.0:0.0:1.0:0.0	.	963	Q8NFM4	ADCY4_HUMAN	V	963	ENSP00000312126:A963V;ENSP00000452250:A963V;ENSP00000393177:A963V	ENSP00000312126:A963V	A	-	2	0	ADCY4	23858212	1.000000	0.71417	0.964000	0.40570	0.736000	0.42039	6.361000	0.73070	2.478000	0.83669	0.655000	0.94253	GCC		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			5	434	0	0	0	1	0	5	434					A	24788372	G	A	24788372	3	1	109	1	0	0	0	0	1	0	0	0	296	1203	42	2	357	2	ADCY4	14	24788372	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	921583	24788372	82561168	97	36323											
PRKCH	5583	broad.mit.edu	37	chr14	62014535	62014535	+	Frame_Shift_Del	DEL	T	T	-													cacgccatcttgagacatccTttttttaaggaaatcgactg							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:62014535delT	ENST00000332981.5	+	13	2221	c.1836delT	c.(1834-1836)cctfs	p.P612fs	RP11-47I22.4_ENST00000556347.1_Frame_Shift_Del_p.L117fs|PRKCH_ENST00000555082.1_Frame_Shift_Del_p.P451fs|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.1_ENST00000556543.1_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	612	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> S (in dbSNP:rs34159231). {ECO:0000269|PubMed:17344846}.		blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGAGACATCCTTTTTTTAAGG	0.522																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000332981.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1834-1836)ccfs		protein kinase C, eta							217	216	216					14																	62014535		2203	4300	6503	SO:0001589	frameshift_variant	5583				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity	g.chr14:62014535delT	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1836delT	14.37:g.62014535delT	ENSP00000329127:p.Pro612fs					PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Frame_Shift_Del_p.L117fs|PRKCH_ENST00000555082.1_Frame_Shift_Del_p.P451fs	p.P612fs	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)	13	2221	+			612		P -> S (in dbSNP:rs34159231).	Protein kinase.		B4DJN5|Q16246|Q8NE03	Frame_Shift_Del	DEL	ENST00000332981.5	37	c.1836delT	CCDS9752.1																																																																																				0.522	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		7	1503						7	1503	---	---	---	---	-	62014535	T	-	62014535	7	5	109	1	0	1	0	1	0	0	0	0	12560	1596	56	0	1886	0	PRKCH	14	62014535	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	37226163	62014535	45335005	98	36324											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197580	65197580	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccaagttctttcgggaccgGcaggagctgctacagcactc	12	13	1	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:65197580G>A	ENST00000394691.1	+	6	777	c.630G>A	c.(628-630)cgG>cgA	p.R210R	PLEKHG3_ENST00000247226.7_Silent_p.R154R			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	210	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)		TTCGGGACCGGCAGGAGCTGC	0.642																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(460-462)cgG>cgA		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							33	36	35					14																	65197580		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197580G>A	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.630G>A	14.37:g.65197580G>A						PLEKHG3_ENST00000394691.1_Silent_p.R210R	p.R154R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	4	770	+			210			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.462G>A																																																																																					0.642	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		4	169	0	0	0	1	0	4	169					A	65197580	G	A	65197580	2	1	109	1	0	0	0	0	0	0	0	1	12112	1190	42	2		2	PLEKHG3	14	65197580	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	3183045	65197580	42151960	99	36325											
SPTB	6710	broad.mit.edu	37	chr14	65233466	65233466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggacgttctctcggtggccGcatggtgggaaactggagcc	17	10	1	0	rs369676353		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:65233466G>A	ENST00000389721.5	-	31	6355	c.6323C>T	c.(6322-6324)gCg>gTg	p.A2108V	SPTB_ENST00000389722.3_Missense_Mutation_p.A2108V|SPTB_ENST00000342835.4_5'Flank|SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389720.3_Silent_p.C2091C	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2108					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)		CTCGGTGGCCGCATGGTGGGA	0.592																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6322-6324)gCg>gTg		spectrin, beta, erythrocytic		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	179	169	172		6323,6323	3.9	0	14		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	2108/2138,2108/2329	65233466	1,13005	2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65233466G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6323C>T	14.37:g.65233466G>A	ENSP00000374371:p.Ala2108Val					SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389720.3_Silent_p.C2091C|SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389721.5_Missense_Mutation_p.A2108V	p.A2108V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	31	6376	-		all_lung(585;4.15e-09)	2108					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6323C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360638	0.11296	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895	T;T;T;T;T	0.71934	-0.53;0.24;-0.53;-0.61;-0.61	4.78	3.88	0.44766	.	2.046820	0.01913	N	0.039967	T	0.52917	0.1764	N	0.08118	0	0.09310	N	1	B;B;B	0.11235	0.004;0.002;0.002	B;B;B	0.06405	0.002;0.001;0.001	T	0.40572	-0.9556	10	0.23891	T	0.37	.	8.2183	0.31526	0.1055:0.0:0.8945:0.0	.	892;2108;2112	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	2112;2108;892;773;2108;2108;2108	ENSP00000374372:A2108V;ENSP00000451324:A773V;ENSP00000451752:A2108V;ENSP00000374371:A2108V;ENSP00000443882:A2108V	ENSP00000334218:A892V	A	-	2	0	SPTB	64303219	0.172000	0.23043	0.019000	0.16419	0.017000	0.09413	3.604000	0.54081	2.648000	0.89879	0.462000	0.41574	GCG		0.592	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	807	0	0	0	1	0	6	807					A	65233466	G	A	65233466	3	1	109	1	0	0	0	0	1	0	0	0	15170	1087	38	1	752	1	SPTB	14	65233466	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	35886	65233466	42116074	100	36326											
TMED10	10972	broad.mit.edu	37	chr14	75601711	75601712	+	Splice_Site	INS	-	-	A													cccgagtgtttgttgactctINSaaaaaaaaacaaaagcattg					rs200389497	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	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																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e5-2		transmembrane emp24-like trafficking protein 10 (yeast)																																				SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75601711_75601712insA	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						RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	5	590	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	INS	ENST00000303575.4	37		CCDS9840.1																																																																																				0.426	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	10	251						10	251	---	---	---	---	A	75601712	-	A	75601711	8	5	109	1	0	1	1	0	0	0	1	0	16055	1536	53	0	126	0	TMED10	14	75601711	Splice_Site	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	10368245	75601711	31747829	101	36327											
C14orf145	145508	broad.mit.edu	37	chr14	81223250	81223250	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aattaccttgctttctgctaAccagcgatgtgggtcataat	8	9	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:81223250A>G	ENST00000555265.1	-	18	2974	c.2599T>C	c.(2599-2601)Tta>Cta	p.L867L	CEP128_ENST00000281129.3_Silent_p.L867L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	867						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTTTCTGCTAACCAGCGATGT	0.294																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2599-2601)Tta>Cta		centrosomal protein 128kDa							66	66	66					14																	81223250		2203	4297	6500	SO:0001819	synonymous_variant	145508					centriole|spindle pole		g.chr14:81223250A>G	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2599T>C	14.37:g.81223250A>G						CEP128_ENST00000281129.3_Silent_p.L867L	p.L867L			Q6ZU80	CE128_HUMAN			18	2974	-			867					B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	c.2599T>C	CCDS32130.1																																																																																				0.294	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		4	261	0	0	0	1	0	4	261					G	81223250	A	G	81223250	2	3	109	1	0	0	0	0	0	0	0	1	1754	40	2	4		4	C14orf145	14	81223250	Silent	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08	5621539	81223250	26126290	102	36328											
C14orf145	145508	broad.mit.edu	37	chr14	81259286	81259286	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctcactgaggtaccGctcagcctgcttggttgcat	12	12	2	1	rs367862042		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:81259286G>A	ENST00000555265.1	-	14	1753	c.1378C>T	c.(1378-1380)Cgg>Tgg	p.R460W	CEP128_ENST00000281129.3_Missense_Mutation_p.R460W			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	460						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTGAGGTACCGCTCAGCCTGC	0.542																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1378-1380)Cgg>Tgg		centrosomal protein 128kDa		G	TRP/ARG	0,4406		0,0,2203	159	140	146		1378	4.5	0.9	14		146	2,8598	2.2+/-6.3	0,2,4298	no	missense	CEP128	NM_152446.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	460/1095	81259286	2,13004	2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259286G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1378C>T	14.37:g.81259286G>A	ENSP00000451162:p.Arg460Trp					CEP128_ENST00000281129.3_Missense_Mutation_p.R460W	p.R460W			Q6ZU80	CE128_HUMAN			14	1753	-			460					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1378C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600763	0.66332	0.0	2.33E-4	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.35236	1.32;1.32	5.47	4.54	0.55810	.	0.568535	0.14876	N	0.293264	T	0.41282	0.1152	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.50270	0.636	T	0.32214	-0.9915	10	0.72032	D	0.01	.	13.1435	0.59448	0.0:0.0:0.6046:0.3954	.	460	Q6ZU80	CE128_HUMAN	W	460	ENSP00000281129:R460W;ENSP00000451162:R460W	ENSP00000281129:R460W	R	-	1	2	CEP128	80329039	0.007000	0.16637	0.950000	0.38849	0.893000	0.52053	0.750000	0.26334	2.562000	0.86427	0.650000	0.86243	CGG		0.542	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		5	440	0	0	0	1	0	5	440					A	81259286	G	A	81259286	3	1	109	1	0	0	0	0	1	0	0	0	1754	1086	38	1	1954	1	C14orf145	14	81259286	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	36036	81259286	26090254	103	36329											
AQR	9716	broad.mit.edu	37	chr15	35202432	35202432	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctatgttgggtttggCcacttcaacgacagtgaaag	10	9	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:35202432C>T	ENST00000156471.5	-	17	1792	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	523					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)		TTGGGTTTGGCCACTTCAACG	0.473																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1567-1569)Gcc>Acc		aquarius intron-binding spliceosomal factor							138	136	137					15																	35202432		1929	4128	6057	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35202432C>T	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.1567G>A	15.37:g.35202432C>T	ENSP00000156471:p.Ala523Thr						p.A523T	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	17	1792	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	523					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1567G>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798913	0.96960	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93953	-3.32	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.91249	3.19	0.80722	D	1	D	0.54772	0.968	P	0.54664	0.758	D	0.96700	0.9517	10	0.52906	T	0.07	-13.1707	19.9112	0.97025	0.0:1.0:0.0:0.0	.	523	O60306	AQR_HUMAN	T	523	ENSP00000156471:A523T	ENSP00000156471:A523T	A	-	1	0	AQR	32989724	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.696000	0.84270	2.718000	0.92993	0.585000	0.79938	GCC		0.473	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		7	523	0	0	0	1	0	7	523					T	35202432	C	T	35202432	3	4	109	1	0	0	0	0	1	0	0	0	835	739	26	2	2966	2	AQR	15	35202432	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08		35202432	67328960	104	36330											
INO80	54617	broad.mit.edu	37	chr15	41341604	41341604	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgccgttcaaataactcCgggtgattacacacctaaaa	6	11	2	1	rs181458553		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:41341604C>T	ENST00000361937.3	-	21	2881	c.2457G>A	c.(2455-2457)ccG>ccA	p.P819P	INO80_ENST00000401393.3_Silent_p.P819P			Q9ULG1	INO80_HUMAN	INO80 complex subunit	819	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAAATAACTCCGGGTGATTAC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20105	0.001		0.0	False		,,,				2504	0.0					ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2455-2457)ccG>ccA		INO80 complex subunit		C		1,4405	2.1+/-5.4	0,1,2202	108	97	101		2457	0.9	1	15		101	0,8600		0,0,4300	no	coding-synonymous	INO80	NM_017553.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		819/1557	41341604	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41341604C>T	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.2457G>A	15.37:g.41341604C>T						INO80_ENST00000401393.3_Silent_p.P819P	p.P819P			Q9ULG1	INO80_HUMAN			21	2881	-			819			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.2457G>A	CCDS10071.1																																																																																				0.408	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		20	339	0	0	0	1	0	20	339					T	41341604	C	T	41341604	2	4	109	1	0	0	0	0	0	0	0	1	7776	639	23	1		1	INO80	15	41341604	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	6139172	41341604	61189788	105	36331											
SEMA6D	80031	broad.mit.edu	37	chr15	48056428	48056428	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacattgaaaaagtattcaaAggacggtttaaggaacagaa	10	4	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:48056428A>G	ENST00000316364.5	+	11	1462	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	SEMA6D_ENST00000389432.2_Silent_p.K341K|SEMA6D_ENST00000558014.1_Silent_p.K341K|SEMA6D_ENST00000536845.2_Silent_p.K341K|SEMA6D_ENST00000354744.4_Silent_p.K341K|SEMA6D_ENST00000358066.4_Silent_p.K341K|SEMA6D_ENST00000389433.2_Silent_p.K341K|SEMA6D_ENST00000558816.1_Silent_p.K341K|SEMA6D_ENST00000389428.3_Silent_p.K341K|SEMA6D_ENST00000537942.1_Silent_p.K341K|SEMA6D_ENST00000389425.3_Silent_p.K341K|SEMA6D_ENST00000355997.3_Silent_p.K341K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	341	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)		AAGTATTCAAAGGACGGTTTA	0.413																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1021-1023)aaA>aaG		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							104	99	101					15																	48056428		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056428A>G	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.1023A>G	15.37:g.48056428A>G						SEMA6D_ENST00000558014.1_Silent_p.K341K|SEMA6D_ENST00000389425.3_Silent_p.K341K|SEMA6D_ENST00000558816.1_Silent_p.K341K|SEMA6D_ENST00000354744.4_Silent_p.K341K|SEMA6D_ENST00000389433.2_Silent_p.K341K|SEMA6D_ENST00000358066.4_Silent_p.K341K|SEMA6D_ENST00000536845.2_Silent_p.K341K|SEMA6D_ENST00000389428.3_Silent_p.K341K|SEMA6D_ENST00000355997.3_Silent_p.K341K|SEMA6D_ENST00000389432.2_Silent_p.K341K|SEMA6D_ENST00000537942.1_Silent_p.K341K	p.K341K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	11	1462	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	341			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.1023A>G	CCDS32225.1																																																																																				0.413	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		24	388	0	0	0	1	0	24	388					G	48056428	A	G	48056428	2	3	109	1	0	0	0	0	0	0	0	1	14092	69	3	4		4	SEMA6D	15	48056428	Silent	SNP	A	TCGA-RB-AA9M-01A-11D-A397-08	6714824	48056428	54474964	106	36332											
SLC12A1	6557	broad.mit.edu	37	chr15	48539196	48539196	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctggcctcccttgtcagcGcacccaaagtgttccaggta	9	16	1	0	rs182552195	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:48539196G>A	ENST00000558405.1	+	11	1557	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T	SLC12A1_ENST00000396577.3_Missense_Mutation_p.A515T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A515T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	515					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)	CCTTGTCAGCGCACCCAAAGT	0.498													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19312	0.0		0.0	False		,,,				2504	0.0					ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1543-1545)Gca>Aca		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						200	185	190					15																	48539196		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48539196G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1543G>A	15.37:g.48539196G>A	ENSP00000453409:p.Ala515Thr					SLC12A1_ENST00000558405.1_Missense_Mutation_p.A515T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A515T	p.A515T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	12	1758	+		all_lung(180;0.00219)	515					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1543G>A	CCDS10129.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	29.8	5.039849	0.93630	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98876	-5.2;-5.2	4.98	4.98	0.66077	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99395	1.0926	10	0.87932	D	0	.	18.4428	0.90673	0.0:0.0:1.0:0.0	.	515;515	E9PDW4;Q13621	.;S12A1_HUMAN	T	328;515;515	ENSP00000370381:A515T;ENSP00000379822:A515T	ENSP00000370381:A515T	A	+	1	0	SLC12A1	46326488	1.000000	0.71417	0.946000	0.38457	0.954000	0.61252	9.652000	0.98499	2.582000	0.87167	0.655000	0.94253	GCA		0.498	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			6	740	0	0	0	1	0	6	740					A	48539196	G	A	48539196	3	1	109	1	0	0	0	0	1	0	0	0	14432	1087	38	1	1685	1	SLC12A1	15	48539196	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	482768	48539196	53992196	107	36333											
POLG	5428	broad.mit.edu	37	chr15	89864367	89864367	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccatgcatgccgGcaaagtgggcgtctccaagc	11	15	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:89864367G>A	ENST00000268124.5	-	17	3056	c.2723C>T	c.(2722-2724)gCc>gTc	p.A908V	POLG_ENST00000442287.2_Missense_Mutation_p.A908V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	908					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ATGCATGCCGGCAAAGTGGGC	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2722-2724)gCc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							74	82	79					15																	89864367		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89864367G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2723C>T	15.37:g.89864367G>A	ENSP00000268124:p.Ala908Val					POLG_ENST00000442287.2_Missense_Mutation_p.A908V	p.A908V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		17	3056	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		908					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2723C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651395	0.88056	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96716	-4.1;-4.1	5.24	4.31	0.51392	DNA-directed DNA polymerase, family A, palm domain (2);	0.050208	0.85682	D	0.000000	D	0.97343	0.9131	L	0.58583	1.82	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97312	0.9938	10	0.51188	T	0.08	-3.644	15.2004	0.73132	0.0:0.0:0.858:0.142	.	908	P54098	DPOG1_HUMAN	V	908	ENSP00000268124:A908V;ENSP00000399851:A908V	ENSP00000268124:A908V	A	-	2	0	POLG	87665371	1.000000	0.71417	0.451000	0.26982	0.989000	0.77384	7.638000	0.83328	1.184000	0.42957	0.655000	0.94253	GCC		0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		6	656	0	0	0	1	0	6	656					A	89864367	G	A	89864367	3	1	109	1	0	0	0	0	1	0	0	0	12242	1203	42	2	1024	2	POLG	15	89864367	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	41325171	89864367	12667025	108	36334											
CHSY1	22856	broad.mit.edu	37	chr15	101717648	101717648	+	Frame_Shift_Del	DEL	T	T	-													ttttactgtaacttggatcaTttttttccagccacatctca							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:101717648delT	ENST00000254190.3	-	3	2829	c.2354delA	c.(2353-2355)aatfs	p.N785fs	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	785					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTTGGATCATTTTTTTCCAG	0.428																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(2353-2355)atfs		chondroitin sulfate synthase 1							75	76	76					15																	101717648		2203	4300	6503	SO:0001589	frameshift_variant	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101717648delT	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2354delA	15.37:g.101717648delT	ENSP00000254190:p.Asn785fs					CHSY1_ENST00000543813.1_5'UTR	p.N785fs	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	2829	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		785					Q6UX38|Q7LFU5|Q9Y2J5	Frame_Shift_Del	DEL	ENST00000254190.3	37	c.2354delA	CCDS10390.1																																																																																				0.428	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		8	527						8	527	---	---	---	---	-	101717648	T	-	101717648	7	5	109	1	0	1	0	1	0	0	0	0	3421	1493	52	0	58	0	CHSY1	15	101717648	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	11853281	101717648	813744	109	36335											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000344181.3_5'UTR	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				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						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	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.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		8	514						8	514	---	---	---	---	-	15729984	CCA	-	15729982	7	5	109	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-RB-AA9M-01A-11D-A397-08		15729982	74624771	110	36336											
KIAA0556	23247	broad.mit.edu	37	chr16	27761391	27761391	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaacctcatcgacgGggtgaacaggacccaggatg	13	12	2	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr16:27761391G>T	ENST00000261588.4	+	16	3129	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1037						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTCATCGACGGGGTGAACAGG	0.552																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3109-3111)gGg>gTg		KIAA0556							75	66	69					16																	27761391		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761391G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3110G>T	16.37:g.27761391G>T	ENSP00000261588:p.Gly1037Val						p.G1037V	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			16	3129	+			1037					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3110G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936532	0.73442	.	.	ENSG00000047578	ENST00000261588	T	0.24908	1.83	5.22	5.22	0.72569	.	0.052178	0.85682	D	0.000000	T	0.64681	0.2620	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75869	-0.3165	10	0.87932	D	0	-20.8399	18.7608	0.91849	0.0:0.0:1.0:0.0	.	1037	O60303	K0556_HUMAN	V	1037	ENSP00000261588:G1037V	ENSP00000261588:G1037V	G	+	2	0	KIAA0556	27668892	1.000000	0.71417	0.995000	0.50966	0.686000	0.39977	7.850000	0.86915	2.578000	0.87016	0.655000	0.94253	GGG		0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		15	230	1	0	0.000308642	1	0.000317938	15	230					T	27761391	G	T	27761391	3	4	109	1	0	0	0	0	1	0	0	0	8213	1232	43	3	3172	3	KIAA0556	16	27761391	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	12031409	27761391	62593362	111	36337											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	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						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	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.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	259						7	259	---	---	---	---	-	69726422	CAG	-	69726420	7	5	109	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-RB-AA9M-01A-11D-A397-08	41965029	69726420	20628333	112	36338											
TUSC5	286753	broad.mit.edu	37	chr17	1183350	1183350	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggagccaggctccgccGcattcctggacctgccggag	13	16	0	0	rs199751182		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:1183350G>A	ENST00000333813.3	+	1	394	c.55G>A	c.(55-57)Gca>Aca	p.A19T		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	19					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCTCCGCCGCATTCCTGGA	0.637																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(55-57)Gca>Aca		tumor suppressor candidate 5							47	52	51					17																	1183350		1970	4150	6120	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183350G>A	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.55G>A	17.37:g.1183350G>A	ENSP00000329548:p.Ala19Thr						p.A19T	NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	394	+			19					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.55G>A	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278396	0.23307	.	.	ENSG00000184811	ENST00000333813	T	0.70282	-0.47	5.22	1.68	0.24146	.	0.540328	0.17050	N	0.188966	T	0.37598	0.1009	N	0.08118	0	0.09310	N	1	B	0.27117	0.168	B	0.15052	0.012	T	0.16808	-1.0390	10	0.08599	T	0.76	-0.0913	2.3856	0.04364	0.1488:0.0867:0.1612:0.6033	.	19	Q8IXB3	TUSC5_HUMAN	T	19	ENSP00000329548:A19T	ENSP00000329548:A19T	A	+	1	0	TUSC5	1130100	0.012000	0.17670	0.005000	0.12908	0.055000	0.15305	0.778000	0.26732	0.325000	0.23359	-1.934000	0.00508	GCA		0.637	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		5	434	0	0	0	1	0	5	434					A	1183350	G	A	1183350	3	1	109	1	0	0	0	0	1	0	0	0	16833	1087	38	1	57	1	TUSC5	17	1183350	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		1183350	80011860	113	36339											
TP53	7157	broad.mit.edu	37	chr17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	9	14	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:7577082C>A	ENST00000269305.4	-	8	1045	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(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)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076567	TP53	M		c.(856-858)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							95	81	86					17																	7577082		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577082C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>T	17.37:g.7577082C>A	ENSP00000269305:p.Glu286*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	988	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	286		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.856G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072281	0.93950	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	.	.	.	X	286;286;286;286;286;275;154	.	ENSP00000269305:E286X	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	152	1	0	4.3838e-07	1	4.68519e-07	14	152					A	7577082	C	A	7577082	4	1	109	1	0	0	0	0	0	1	0	0	16434	864	30	3	430	3	TP53	17	7577082	Nonsense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	6393732	7577082	73618128	114	36340											
PEX12	5193	broad.mit.edu	37	chr17	33904476	33904476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacaattctctttaagccGtaaaagttttcagaaaatga	5	6	2	2	rs61752099|rs145784404		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:33904476G>A	ENST00000225873.4	-	2	868	c.261C>T	c.(259-261)taC>taT	p.Y87Y	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	87					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTTTAAGCCGTAAAAGTTTT	0.428																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18	GRCh37	CI045263	PEX12	I	rs61752099	c.(259-261)taC>taT		peroxisomal biogenesis factor 12		G		1,4405	2.1+/-5.4	0,1,2202	150	168	162		261	-1.9	1	17	dbSNP_134	162	0,8600		0,0,4300	no	coding-synonymous	PEX12	NM_000286.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		87/360	33904476	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904476G>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.261C>T	17.37:g.33904476G>A							p.Y87Y	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	868	-			87					B2R6M2	Silent	SNP	ENST00000225873.4	37	c.261C>T	CCDS11296.1																																																																																				0.428	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		6	1062	0	0	0	1	0	6	1062					A	33904476	G	A	33904476	2	1	109	1	0	0	0	0	0	0	0	1	11782	1140	40	1		1	PEX12	17	33904476	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	26327394	33904476	47290734	115	36341											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Frame_Shift_Del	DEL	T	T	-													ctgacagggtcaggtagcccTttttcaggtaactgaaccag							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:76993313delT	ENST00000302345.2	-	2	886	c.392delA	c.(391-393)aagfs	p.K131fs	CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)agfs		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001589	frameshift_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313delT	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392delA	17.37:g.76993313delT	ENSP00000307674:p.Lys131fs					CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs	p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Frame_Shift_Del	DEL	ENST00000302345.2	37	c.392delA	CCDS11760.1																																																																																				0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		7	1454						7	1454	---	---	---	---	-	76993313	T	-	76993313	7	5	109	1	0	1	0	1	0	0	0	0	2624	1609	56	0	825	0	CANT1	17	76993313	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	43088837	76993313	4201897	116	36342											
ANKRD30B	374860	broad.mit.edu	37	chr18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cagaatccaaacaaaaggacGatgaagaaaattcttgggat	9	6	1	3	rs372948852		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171	145	152					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	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.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		6	271	1	0	0.00116845	1	0.00119643	6	271					T	14787073	G	T	14787073	3	4	109	1	0	0	0	0	1	0	0	0	659	1058	37	3	1766	3	ANKRD30B	18	14787073	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		14787073	63290175	117	36343											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			8	823						8	823	---	---	---	---	-	55992286	TCC	-	55992284	7	5	109	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-RB-AA9M-01A-11D-A397-08	41205211	55992284	22084964	118	36344											
PLIN4	729359	broad.mit.edu	37	chr19	4513137	4513137	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctttggccacattcaTggcaccagtcaccccactac	7	16	2	0			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:4513137T>C	ENST00000301286.3	-	3	792	c.793A>G	c.(793-795)Atg>Gtg	p.M265V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	265	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						GCCACATTCATGGCACCAGTC	0.547																																						ENST00000301286.3																			0				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						c.(793-795)Atg>Gtg		perilipin 4							27	29	29					19																	4513137		1851	4021	5872	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4513137T>C	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.793A>G	19.37:g.4513137T>C	ENSP00000301286:p.Met265Val						p.M265V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	792	-			265			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.793A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.528953	0.00951	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	4.18	-6.98	0.01611	.	0.855682	0.10311	N	0.690026	T	0.01730	0.0055	N	0.16743	0.435	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48068	-0.9067	10	0.18276	T	0.48	-8.0672	11.7315	0.51739	0.0:0.3089:0.0:0.6911	.	265	Q96Q06	PLIN4_HUMAN	V	265	ENSP00000301286:M265V	ENSP00000301286:M265V	M	-	1	0	PLIN4	4464137	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-4.697000	0.00197	-1.126000	0.02929	-1.271000	0.01417	ATG		0.547	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		6	449	0	0	0	1	0	6	449					C	4513137	T	C	4513137	3	2	109	1	0	0	0	0	1	0	0	0	12134	1464	51	4	3296	4	PLIN4	19	4513137	Missense_Mutation	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08		4513137	54615846	119	36345											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		10	215						10	215	---	---	---	---	-	6531151	GCT	-	6531149	7	5	109	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-RB-AA9M-01A-11D-A397-08	2018012	6531149	52597834	120	36346											
MUC16	94025	broad.mit.edu	37	chr19	9057565	9057565	+	Frame_Shift_Del	DEL	T	T	-													tgctgtagccccaggagaacTtttttgggtggtgatggtca							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:9057565delT	ENST00000397910.4	-	3	30084	c.29881delA	c.(29881-29883)agtfs	p.S9962fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9964	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						CCAGGAGAACTTTTTTGGGTG	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29881-29883)gtfs		mucin 16, cell surface associated							258	250	252					19																	9057565		1961	4162	6123	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057565delT	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.29881delA	19.37:g.9057565delT	ENSP00000381008:p.Ser9962fs						p.S9962fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30084	-			9964			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.29881delA	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	1157						7	1157	---	---	---	---	-	9057565	T	-	9057565	7	5	109	1	0	1	0	1	0	0	0	0	10014	1609	56	0	13970	0	MUC16	19	9057565	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	2526416	9057565	50071418	121	36347											
ZNF773	374928	broad.mit.edu	37	chr19	58017973	58017973	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcaccaggtgactcacacGggagagaagtcacataggag	13	9	2	2	rs149516480		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:58017973G>A	ENST00000282292.4	+	4	650	c.510G>A	c.(508-510)acG>acA	p.T170T	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.T169T|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(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)		TGACTCACACGGGAGAGAAGT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21189	0.0		0.0	False		,,,				2504	0.001					ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(508-510)acG>acA		zinc finger protein 773		G		2,4404	2.1+/-5.4	0,2,2201	49	49	49		510	-2.4	0	19	dbSNP_134	49	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	ZNF773	NM_198542.1		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		170/443	58017973	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017973G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.510G>A	19.37:g.58017973G>A						ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.T169T|ZNF773_ENST00000599847.1_Intron	p.T170T	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	650	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	170					Q96DL8	Silent	SNP	ENST00000282292.4	37	c.510G>A	CCDS33134.1																																																																																				0.488	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		21	147	0	0	0	1	0	21	147					A	58017973	G	A	58017973	2	1	109	1	0	0	0	0	0	0	0	1	18199	1103	39	1		1	ZNF773	19	58017973	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	48960408	58017973	1111010	122	36348											
BFSP1	631	broad.mit.edu	37	chr20	17474942	17474942	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctccatcctgatcagccGcaggctttggaggctcaggt	12	13	2	1	rs145703098	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:17474942G>A	ENST00000377873.3	-	8	1814	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	BFSP1_ENST00000377868.2_Missense_Mutation_p.A467V|BFSP1_ENST00000544874.1_Missense_Mutation_p.A453V|BFSP1_ENST00000536626.1_Missense_Mutation_p.A453V	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	592	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTGATCAGCCGCAGGCTTTGG	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		17476	0.0		0.001	False		,,,				2504	0.001					ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1774-1776)gCg>gTg		beaded filament structural protein 1, filensin		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	109	111	110		1400,1775	-8.3	0	20	dbSNP_134	110	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	BFSP1	NM_001161705.1,NM_001195.3	64,64	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	benign,benign	467/541,592/666	17474942	10,12996	2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17474942G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1775C>T	20.37:g.17474942G>A	ENSP00000367104:p.Ala592Val					BFSP1_ENST00000377868.2_Missense_Mutation_p.A467V|BFSP1_ENST00000544874.1_Missense_Mutation_p.A453V|BFSP1_ENST00000536626.1_Missense_Mutation_p.A453V	p.A592V	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1814	-			592			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1775C>T	CCDS13126.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.61	1.398916	0.25291	2.27E-4	0.001047	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.71	-8.34	0.00988	.	1.350920	0.04463	N	0.374789	T	0.09818	0.0241	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16837	-1.0389	10	0.25751	T	0.34	-1.6361	0.8359	0.01140	0.2352:0.2059:0.3249:0.234	.	467;592	Q12934-2;Q12934	.;BFSP1_HUMAN	V	592;467;453;453	ENSP00000367104:A592V;ENSP00000367099:A467V;ENSP00000442522:A453V;ENSP00000439870:A453V	ENSP00000367099:A467V	A	-	2	0	BFSP1	17422942	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.689000	0.05144	-1.958000	0.01019	-1.147000	0.01851	GCG		0.577	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		5	611	0	0	0	1	0	5	611					A	17474942	G	A	17474942	3	1	109	1	0	0	0	0	1	0	0	0	1417	1087	38	1	226	1	BFSP1	20	17474942	Missense_Mutation	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08		17474942	45550578	123	36349											
ZHX3	23051	broad.mit.edu	37	chr20	39833199	39833199	+	Frame_Shift_Del	DEL	T	T	-													caaggaaagcccctcaggggTttttgccagaaaactgcacc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:39833199delT	ENST00000309060.3	-	4	773	c.358delA	c.(358-360)accfs	p.T120fs	ZHX3_ENST00000560361.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.T120fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	120					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CCCTCAGGGGTTTTTGCCAGA	0.498																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(358-360)ccfs		zinc fingers and homeoboxes 3							97	96	96					20																	39833199		2203	4300	6503	SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39833199delT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.358delA	20.37:g.39833199delT	ENSP00000312222:p.Thr120fs					ZHX3_ENST00000540170.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.T120fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.T120fs	p.T120fs			Q9H4I2	ZHX3_HUMAN			4	773	-		Myeloproliferative disorder(115;0.00425)	120					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.358delA	CCDS13315.1																																																																																				0.498	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		8	594						8	594	---	---	---	---	-	39833199	T	-	39833199	7	5	109	1	0	1	0	1	0	0	0	0	17730	1725	60	0	2520	0	ZHX3	20	39833199	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	22358257	39833199	23192321	124	36350											
ZNF831	128611	broad.mit.edu	37	chr20	57767447	57767447	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttccactttgacatccgcgCgctggagccaggccgtagga	12	14	0	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:57767447C>T	ENST00000371030.2	+	1	1373	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	458							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)					GACATCCGCGCGCTGGAGCCA	0.677																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1372-1374)gCg>gTg		zinc finger protein 831							31	39	36					20																	57767447		2047	4173	6220	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767447C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1373C>T	20.37:g.57767447C>T	ENSP00000360069:p.Ala458Val						p.A458V	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1373	+	all_lung(29;0.0085)		458					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1373C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850162	0.32699	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.21	5.21	0.72293	.	.	.	.	.	T	0.14013	0.0339	L	0.47716	1.5	0.09310	N	0.999997	D	0.76494	0.999	P	0.56788	0.806	T	0.03060	-1.1077	9	0.62326	D	0.03	-11.9417	17.7439	0.88414	0.0:1.0:0.0:0.0	.	458	Q5JPB2	ZN831_HUMAN	V	458	ENSP00000360069:A458V	ENSP00000360069:A458V	A	+	2	0	ZNF831	57200842	0.910000	0.30920	0.257000	0.24404	0.026000	0.11368	4.059000	0.57470	2.423000	0.82170	0.655000	0.94253	GCG		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		11	165	0	0	0	1	0	11	165					T	57767447	C	T	57767447	3	4	109	1	0	0	0	0	1	0	0	0	18238	768	27	1	1375	1	ZNF831	20	57767447	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	17934248	57767447	5258073	125	36351											
SYCP2	10388	broad.mit.edu	37	chr20	58452518	58452519	+	Frame_Shift_Ins	INS	-	-	T													aatttgagagatctttatagINStttttttttgttttggttgc							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:58452518_58452519insT	ENST00000357552.3	-	33	3296_3297	c.3071_3072insA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					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)			GATCTTTATAGTTTTTTTTTGT	0.327																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3070-3072)atafs		synaptonemal complex protein 2				10,4248		0,10,2119						5.8	1			60	10,8234		0,10,4112	no	frameshift	SYCP2	NM_014258.2		0,20,6231	A1A1,A1R,RR		0.1213,0.2349,0.16				20,12482				SO:0001589	frameshift_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58452518_58452519insT	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.3072dupA	20.37:g.58452527_58452527dupT	ENSP00000350162:p.Asn1024fs					SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs	p.I1024fs			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		33	3296_3297	-	all_lung(29;0.00344)		1024					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Ins	INS	ENST00000357552.3	37	c.3071_3072insA	CCDS13482.1																																																																																				0.327	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		7	322						7	322	---	---	---	---	T	58452519	-	T	58452518	7	5	109	1	0	1	1	0	0	0	0	0	15484	1020	36	0	1572	0	SYCP2	20	58452518	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	685071	58452518	4573002	126	36352											
DIDO1	11083	broad.mit.edu	37	chr20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G													gtctccaaccgtggcggggcINSgggtgccctccccaggctct							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					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)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	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.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	108						7	108	---	---	---	---	G	61512381	-	G	61512380	7	5	109	1	0	1	1	0	0	0	0	0	4538	768	27	0	1798	0	DIDO1	20	61512380	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08	3059862	61512380	1513140	127	36353											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011526	46011526	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ctagactgctggcagcatgaTgtggaagccccagagcagac	13	11	0	4	rs371768583	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr21:46011526T>A	ENST00000400368.1	-	1	860	c.840A>T	c.(838-840)acA>acT	p.T280T	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	280	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T280T(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						GGCAGCATGATGTGGAAGCCC	0.652													.|||	5	0.000998403	0.0008	0.0	5008	,	,		22429	0.001		0.0	False		,,,				2504	0.0031					ENST00000400368.1																			1	Substitution - coding silent(1)	p.T280T(1)	kidney(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						c.(838-840)acA>acT		keratin associated protein 10-6							106	110	109					21																	46011526		2203	4300	6503	SO:0001819	synonymous_variant	386674					keratin filament		g.chr21:46011526T>A	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.840A>T	21.37:g.46011526T>A						TSPEAR_ENST00000323084.4_Intron	p.T280T	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	860	-			280			29 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000400368.1	37	c.840A>T	CCDS42959.1																																																																																				0.652	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		5	522	0	0	0	1	0	5	522					A	46011526	T	A	46011526	2	1	109	1	0	0	0	0	0	0	0	1	8543	1451	51	5		5	KRTAP10-6	21	46011526	Silent	SNP	T	TCGA-RB-AA9M-01A-11D-A397-08		46011526	2118369	128	36354											
PCNT	5116	broad.mit.edu	37	chr21	47856946	47856946	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgatgtctttactgcaCacgttggaggagctgaagtc	13	8	1	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr21:47856946C>T	ENST00000359568.5	+	40	9158	c.9051C>T	c.(9049-9051)caC>caT	p.H3017H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3017	Interaction with NEK2.				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)					CTTTACTGCACACGTTGGAGG	0.557																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(9049-9051)caC>caT		pericentrin							109	91	97					21																	47856946		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47856946C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9051C>T	21.37:g.47856946C>T						PCNT_ENST00000480896.1_3'UTR	p.H3017H	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			40	9158	+	Breast(49;0.112)		3017			Interaction with NEK2.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.9051C>T	CCDS33592.1																																																																																				0.557	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		28	422	0	0	0	1	0	28	422					T	47856946	C	T	47856946	2	4	109	1	0	0	0	0	0	0	0	1	11632	477	17	2		2	PCNT	21	47856946	Silent	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	1845420	47856946	272949	129	36355											
MED15	51586	broad.mit.edu	37	chr22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-													agcagcagcaggcggcgctaCagcagcagcagcagcagcag							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	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)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(532-534)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918817_20918819delCAG	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.532_534delCAG	22.37:g.20918826_20918828delCAG	ENSP00000263205:p.Gln188del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del	p.Q188del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	601_603	+	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)	188			Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.532_534delCAG	CCDS33602.1																																																																																				0.626	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	151						8	151	---	---	---	---	-	20918819	CAG	-	20918817	7	5	109	1	0	1	0	1	0	0	0	0	9474	479	17	0	554	0	MED15	22	20918817	In_Frame_Del	DEL	CAG	TCGA-RB-AA9M-01A-11D-A397-08		20918817	30385749	130	36356											
ZNF70	7621	broad.mit.edu	37	chr22	24087156	24087156	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctcgtaatcatcattttcttCgtcctgctcaccaagaggga	7	12	4	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr22:24087156C>T	ENST00000341976.3	-	2	632	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	58					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						TCATTTTCTTCGTCCTGCTCA	0.507																																						ENST00000341976.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(172-174)Gaa>Aaa		zinc finger protein 70							101	101	101					22																	24087156		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087156C>T	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.172G>A	22.37:g.24087156C>T	ENSP00000339314:p.Glu58Lys						p.E58K	NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN			2	632	-			58						Missense_Mutation	SNP	ENST00000341976.3	37	c.172G>A	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	4.116	0.019653	0.08006	.	.	ENSG00000187792	ENST00000341976	T	0.06294	3.32	3.26	0.946	0.19549	.	.	.	.	.	T	0.05044	0.0135	L	0.36672	1.1	0.09310	N	1	B	0.24132	0.098	B	0.12837	0.008	T	0.38499	-0.9658	9	0.87932	D	0	.	3.5857	0.07970	0.4283:0.437:0.0:0.1346	.	58	Q9UC06	ZNF70_HUMAN	K	58	ENSP00000339314:E58K	ENSP00000339314:E58K	E	-	1	0	ZNF70	22417156	0.039000	0.19947	0.000000	0.03702	0.011000	0.07611	0.251000	0.18257	0.324000	0.23333	0.650000	0.86243	GAA		0.507	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	NM_021916		31	418	0	0	0	1	0	31	418					T	24087156	C	T	24087156	3	4	109	1	0	0	0	0	1	0	0	0	18156	893	31	1	1172	1	ZNF70	22	24087156	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	3168339	24087156	27217410	131	36357											
SH3BP1	23616	broad.mit.edu	37	chr22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-													caacaaggtggagacgctgaAggaggaggaggaggagctga							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr22:38039752_38039754delAGG	ENST00000357436.4	+	7	888_890	c.575_577delAGG	c.(574-579)aaggag>aag	p.E197del	SH3BP1_ENST00000442465.2_In_Frame_Del_p.E197del|SH3BP1_ENST00000599616.1_In_Frame_Del_p.E133del|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_In_Frame_Del_p.E197del|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	197	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000599616.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(382-387)aag>a		SH3-domain binding protein 1				1,4261		0,1,2130						5.1	1			112	1,8253		0,1,4126	no	coding	SH3BP1	NM_018957.3		0,2,6256	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12514				SO:0001651	inframe_deletion	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38039752_38039754delAGG		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.575_577delAGG	22.37:g.38039761_38039763delAGG	ENSP00000350018:p.Glu197del		OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	SH3BP1_ENST00000336738.5_In_Frame_Del_p.KE192del|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_In_Frame_Del_p.KE192del|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000357436.4_In_Frame_Del_p.KE192del	p.KE128del			Q9Y3L3	3BP1_HUMAN			5	383_385	+	Melanoma(58;0.0574)		192			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	In_Frame_Del	DEL	ENST00000357436.4	37	c.383_385delAGG	CCDS13952.2																																																																																				0.606	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		7	406						7	406	---	---	---	---	-	38039754	AGG	-	38039752	7	5	109	1	0	1	0	1	0	0	0	0	14294	72	3	0	601	0	SH3BP1	22	38039752	In_Frame_Del	DEL	AGG	TCGA-RB-AA9M-01A-11D-A397-08	13952596	38039752	13264814	132	36358											
ARFGAP3	26286	broad.mit.edu	37	chr22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-													ttctgagctcccaaacttccTtttttggccccaagctagaa							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aaafs	p.K229fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(685-687)aafs		ADP-ribosylation factor GTPase activating protein 3							126	120	122					22																	43218401		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43218401delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"ADP-ribosylation factor GTPase activating proteins"	661	protein-coding gene	gene with protein product		612439	"ADP-ribosylation factor GTPase activating protein 1"	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.687delA	22.37:g.43218401delT	ENSP00000263245:p.Lys229fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	p.K229fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			9	906	-			229					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.687delA	CCDS14042.1																																																																																				0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		10	811						10	811	---	---	---	---	-	43218401	T	-	43218401	7	5	109	1	0	1	0	1	0	0	0	0	851	1606	56	0	895	0	ARFGAP3	22	43218401	Frame_Shift_Del	DEL	T	TCGA-RB-AA9M-01A-11D-A397-08	5178649	43218401	8086165	133	36359											
SCML2	10389	broad.mit.edu	37	chrX	18276282	18276283	+	Frame_Shift_Ins	INS	-	-	G													gcaccacattcaccgggcccINSgggccgaagtggtcaggcag							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:18276282_18276283insG	ENST00000251900.4	-	10	1313_1314	c.1154_1155insC	c.(1153-1155)ccgfs	p.P385fs	SCML2_ENST00000398048.3_Frame_Shift_Ins_p.P121fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	385					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P385P(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCACCGGGCCCGGGCCGAAGTG	0.5																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			1	Substitution - coding silent(1)	p.P385P(1)	lung(1)	breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1153-1155)cggfs		sex comb on midleg-like 2 (Drosophila)																																				SO:0001589	frameshift_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18276282_18276283insG	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1155dupC	X.37:g.18276285_18276285dupG	ENSP00000251900:p.Pro385fs					SCML2_ENST00000398048.3_Frame_Shift_Ins_p.R121fs	p.R385fs	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			10	1313_1314	-	Hepatocellular(33;0.183)		385					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Frame_Shift_Ins	INS	ENST00000251900.4	37	c.1154_1155insC	CCDS14185.1																																																																																				0.5	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		8	437						8	437	---	---	---	---	G	18276283	-	G	18276282	7	5	109	1	0	1	1	0	0	0	0	0	13960	639	23	0	971	0	SCML2	23	18276282	Frame_Shift_Ins	INS	-	TCGA-RB-AA9M-01A-11D-A397-08		18276282	136994278	134	36360											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			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)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	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.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		7	29						7	29	---	---	---	---	-	50350713	TCC	-	50350711	7	5	109	1	0	1	0	1	0	0	0	0	14346	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-RB-AA9M-01A-11D-A397-08	32074429	50350711	104919849	135	36361											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		13	452						13	452	---	---	---	---	-	102004421	GAG	-	102004419	7	5	109	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-RB-AA9M-01A-11D-A397-08	51653708	102004419	53266141	136	36362											
ODZ1	10178	broad.mit.edu	37	chrX	123779129	123779129	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccccttccagccatgccgGcagacacagtgtcctttctc	9	17	1	1			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:123779129G>A	ENST00000371130.3	-	10	1803	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	TENM1_ENST00000422452.2_Silent_p.C580C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	580	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGCCATGCCGGCAGACACAGT	0.507																																						ENST00000422452.2																			0											c.(1738-1740)tgC>tgT		teneurin transmembrane protein 1							232	206	215					X																	123779129		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123779129G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1740C>T	X.37:g.123779129G>A						TENM1_ENST00000371130.3_Silent_p.C580C	p.C580C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					10	1803	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.1740C>T	CCDS14609.1																																																																																				0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	622	0	0	0	1	0	6	622					A	123779129	G	A	123779129	2	1	109	1	0	0	0	0	0	0	0	1	10876	1195	42	2		2	ODZ1	23	123779129	Silent	SNP	G	TCGA-RB-AA9M-01A-11D-A397-08	21774710	123779129	31491431	137	36363											
SAGE1	55511	broad.mit.edu	37	chrX	134993945	134993945	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgatagtaatgaatttgCggtaggcaccaaaaactaca	8	8	0	2			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:134993945C>T	ENST00000370709.3	+	17	2354	c.2354C>T	c.(2353-2355)gCg>gTg	p.A785V	SAGE1_ENST00000324447.3_Missense_Mutation_p.A785V|SAGE1_ENST00000537770.1_Missense_Mutation_p.A409V|SAGE1_ENST00000535938.1_Missense_Mutation_p.A785V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	785						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGAATTTGCGGTAGGCACC	0.443																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2353-2355)gCg>gTg		sarcoma antigen 1							136	126	129					X																	134993945		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993945C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2354C>T	X.37:g.134993945C>T	ENSP00000359743:p.Ala785Val					SAGE1_ENST00000537770.1_Missense_Mutation_p.A409V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A785V|SAGE1_ENST00000370709.3_Missense_Mutation_p.A785V	p.A785V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			18	2521	+	Acute lymphoblastic leukemia(192;0.000127)		785					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2354C>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188862	0.01607	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.30182	1.54;1.54;1.58;1.54	2.67	-5.34	0.02705	.	7.345260	0.00851	N	0.001834	T	0.08492	0.0211	N	0.00707	-1.245	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.08055	0.003;0.001	T	0.31251	-0.9950	10	0.07482	T	0.82	.	8.3271	0.32165	0.0:0.1179:0.2009:0.6812	.	409;785	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	V	785;785;409;785	ENSP00000323191:A785V;ENSP00000445959:A785V;ENSP00000438276:A409V;ENSP00000359743:A785V	ENSP00000323191:A785V	A	+	2	0	SAGE1	134821611	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-4.323000	0.00253	-2.402000	0.00577	-1.175000	0.01729	GCG		0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		5	566	0	0	0	1	0	5	566					T	134993945	C	T	134993945	3	4	109	1	0	0	0	0	1	0	0	0	13859	768	27	1	2420	1	SAGE1	23	134993945	Missense_Mutation	SNP	C	TCGA-RB-AA9M-01A-11D-A397-08	11214816	134993945	20276615	138	36364											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		8	357						8	357	---	---	---	---	-	150817144	GCT	-	150817142	7	5	109	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-RB-AA9M-01A-11D-A397-08	15823197	150817142	4453418	139	36365											
CHD5	26038	broad.mit.edu	37	chr1	6202537	6202537	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccagacccatctcatcGgccaggatggtgtcagtgcc	11	14	2	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:6202537G>A	ENST00000262450.3	-	14	2271	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCATCTCATCGGCCAGGATGG	0.647																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2170-2172)gcC>gcT		chromodomain helicase DNA binding protein 5							106	77	87					1																	6202537		2203	4300	6503	SO:0001819	synonymous_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202537G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2172C>T	1.37:g.6202537G>A						CHD5_ENST00000378021.1_5'UTR	p.A724A	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2271	-	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)	724			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	ENST00000262450.3	37	c.2172C>T	CCDS57.1																																																																																				0.647	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		5	210	0	0	0	1	0	5	210					A	6202537	G	A	6202537	2	1	110	1	0	0	0	0	0	0	0	1	3337	1103	39	1		1	CHD5	1	6202537	Silent	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		6202537	243048084	1	36366											
PLEKHG5	57449	broad.mit.edu	37	chr1	6537680	6537680	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagaggttgaggggcccCcggcggtgcagctgctggca	18	12	0	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:6537680C>T	ENST00000400915.3	-	3	186	c.120G>A	c.(118-120)cgG>cgA	p.R40R	PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Silent_p.R63R|PLEKHG5_ENST00000377748.1_Silent_p.R61R|PLEKHG5_ENST00000400913.1_5'UTR|PLEKHG5_ENST00000377728.3_5'UTR|PLEKHG5_ENST00000377732.1_Silent_p.R21R|PLEKHG5_ENST00000377740.3_Silent_p.R61R|PLEKHG5_ENST00000535355.1_Silent_p.R53R|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000340850.5_5'UTR|PLEKHG5_ENST00000377725.1_5'UTR	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	40					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)		TGAGGGGCCCCCGGCGGTGCA	0.632																																						ENST00000377748.1																			0				liver(1)	1						c.(181-183)cgG>cgA		pleckstrin homology domain containing, family G (with RhoGef domain) member 5							58	61	60					1																	6537680		2203	4300	6503	SO:0001819	synonymous_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6537680C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.120G>A	1.37:g.6537680C>T						PLEKHG5_ENST00000535355.1_Silent_p.R53R|PLEKHG5_ENST00000544978.1_5'UTR|PLEKHG5_ENST00000537245.1_Silent_p.R63R|PLEKHG5_ENST00000400913.1_5'UTR|PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000340850.5_5'UTR|PLEKHG5_ENST00000400915.3_Silent_p.R40R|PLEKHG5_ENST00000377732.1_Silent_p.R21R|PLEKHG5_ENST00000377737.2_5'UTR|PLEKHG5_ENST00000377740.3_Silent_p.R61R|PLEKHG5_ENST00000377728.3_5'UTR	p.R61R	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	3	680	-	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)	40					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	c.183G>A	CCDS41241.1																																																																																				0.632	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		7	377	0	0	0	1	0	7	377					T	6537680	C	T	6537680	2	4	110	1	0	0	0	0	0	0	0	1	12115	610	22	2		2	PLEKHG5	1	6537680	Silent	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	335143	6537680	242712941	2	36367											
THRAP3	9967	broad.mit.edu	37	chr1	36752097	36752097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctattatttccgtgggcGtaacagaggcttttatccat	9	10	0	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:36752097G>A	ENST00000354618.5	+	4	490	c.266G>A	c.(265-267)cGt>cAt	p.R89H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R89H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	89	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCCGTGGGCGTAACAGAGGC	0.478			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(265-267)cGt>cAt		thyroid hormone receptor associated protein 3							90	90	90					1																	36752097		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752097G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.266G>A	1.37:g.36752097G>A	ENSP00000346634:p.Arg89His					THRAP3_ENST00000469141.2_Missense_Mutation_p.R89H	p.R89H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			4	490	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	89			Arg-rich.|Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.266G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553487	0.65425	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.38240	1.15;1.15	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000004	T	0.61022	0.2314	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.62407	-0.6861	10	0.87932	D	0	-2.8476	18.7693	0.91885	0.0:0.0:1.0:0.0	.	89	Q9Y2W1	TR150_HUMAN	H	89	ENSP00000346634:R89H;ENSP00000433825:R89H	ENSP00000346634:R89H	R	+	2	0	THRAP3	36524684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.003000	0.93577	2.746000	0.94184	0.655000	0.94253	CGT		0.478	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		6	386	0	0	0	1	0	6	386					A	36752097	G	A	36752097	3	1	110	1	0	0	0	0	1	0	0	0	15926	1145	40	1	272	1	THRAP3	1	36752097	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	30214417	36752097	212498524	3	36368											
MACF1	23499	broad.mit.edu	37	chr1	39788668	39788670	+	In_Frame_Del	DEL	GGA	GGA	-													agtgatgcactccggcgtctGgaggaggaggaggtgaggac							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:39788668_39788670delGGA	ENST00000372915.3	+	32	4326_4328	c.4239_4241delGGA	c.(4237-4242)ctggag>ctg	p.E1417del	MACF1_ENST00000545844.1_In_Frame_Del_p.E1417del|MACF1_ENST00000361689.2_In_Frame_Del_p.E1417del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000567887.1_In_Frame_Del_p.E1449del|MACF1_ENST00000539005.1_In_Frame_Del_p.E1417del|MACF1_ENST00000564288.1_In_Frame_Del_p.E1412del|MACF1_ENST00000317713.7_In_Frame_Del_p.E1417del			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1417	Poly-Glu.				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)			TCCGGCGTCTGGAGGAGGAGGAG	0.493																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(4222-4227)ctg>ct		microtubule-actin crosslinking factor 1																																				SO:0001651	inframe_deletion	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39788668_39788670delGGA	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.4239_4241delGGA	1.37:g.39788677_39788679delGGA	ENSP00000362006:p.Glu1417del					MACF1_ENST00000317713.7_In_Frame_Del_p.LE1413del|MACF1_ENST00000539005.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000545844.1_In_Frame_Del_p.LE1413del|MACF1_ENST00000567887.1_In_Frame_Del_p.LE1445del|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_In_Frame_Del_p.LE1413del|MACF1_ENST00000372915.3_In_Frame_Del_p.LE1413del	p.LE1408del			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		33	5001_5003	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1413					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	In_Frame_Del	DEL	ENST00000372915.3	37	c.4224_4226delGGA																																																																																					0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		8	510						8	510	---	---	---	---	-	39788670	GGA	-	39788668	7	5	110	1	0	1	0	1	0	0	0	0	9183	1335	47	0	4365	0	MACF1	1	39788668	In_Frame_Del	DEL	GGA	TCGA-RL-AAAS-01A-32D-A397-08	3036571	39788668	209461953	4	36369											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			12	797						12	797	---	---	---	---	-	74957826	CTT	-	74957824	6	5	110	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-RL-AAAS-01A-32D-A397-08	35169156	74957824	174292797	5	36370											
CCDC18	343099	broad.mit.edu	37	chr1	93667515	93667516	+	Frame_Shift_Ins	INS	-	-	A													gtaaagctttccaacaatatINSaaaaaaaaagtggctgaaaa							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:93667515_93667516insA	ENST00000343253.7	+	7	1267_1268	c.765_766insA	c.(766-768)aaafs	p.K256fs	CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.K374fs|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.K256fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.K55fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	256								p.V377fs*15(1)		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)		TCCAACAATATAAAAAAAAAGT	0.317																																						ENST00000343253.7																			1	Deletion - Frameshift(1)	p.V377fs*15(1)	ovary(1)	breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(763-768)taaaaafs		coiled-coil domain containing 18																																				SO:0001589	frameshift_variant	343099							g.chr1:93667515_93667516insA			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.774dupA	1.37:g.93667524_93667524dupA	ENSP00000343377:p.Lys256fs					CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.*K373fs|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.*K54fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.*K255fs	p.*K255fs			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	7	1267_1268	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	255					Q6ZU17	Frame_Shift_Ins	INS	ENST00000343253.7	37	c.765_766insA																																																																																					0.317	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		7	229						7	229	---	---	---	---	A	93667516	-	A	93667515	7	5	110	1	0	1	1	0	0	0	0	0	2801	1413	49	0	1145	0	CCDC18	1	93667515	Frame_Shift_Ins	INS	-	TCGA-RL-AAAS-01A-32D-A397-08	18709691	93667515	155583106	6	36371											
KCND3	3752	broad.mit.edu	37	chr1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G													ccgcaggccctgggagtggcINSgggaaaacttgaagatcctg							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		7	327						7	327	---	---	---	---	G	112524445	-	G	112524444	7	5	110	1	0	1	1	0	0	0	0	0	8050	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-RL-AAAS-01A-32D-A397-08	18856929	112524444	136726177	7	36372											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A													agtcttgcaggactcactggGtagatggtattcgactcctt							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	p.G454D	NM_001037675.2	NP_001032764.1					11	1361	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		9	760	0	0	0	1	0	9	760					A	144825409	G	A	144825409	3	1	110	1	0	0	0	0	1	0	0	0	10241	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	32300965	144825409	104425212	8	36373	227	2									
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T													caggactcactgggtagatgGtattcgactccttcaggtta							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	p.W456C	NM_001037675.2	NP_001032764.1					11	1368	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		9	813	1	0	0.000274275	1	0.000282714	9	813					T	144825416	G	T	144825416	3	4	110	1	0	0	0	0	1	0	0	0	10241	1270	44	3	2202	3	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	7	144825416	104425205	9	36374	227	2									
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaccttgcctgaatggcgGcacatgccatatgctcagcc	10	14	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532																																						ENST00000369340.3																			2	Substitution - Missense(2)	p.G80D(2)	prostate(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(238-240)gGc>gAc		notch 2 N-terminal like							402	370	381					1																	145273385		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273385G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.239G>A	1.37:g.145273385G>A	ENSP00000358346:p.Gly80Asp					RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D	p.G80D			Q7Z3S9	NT2NL_HUMAN			4	683	+			80			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.239G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834089	0.50951	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.97480	-4.4;-4.4;-4.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98216	0.9410	M	0.90145	3.09	0.38396	D	0.945546	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98847	1.0757	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	80;80	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	D	80	ENSP00000354929:G80D;ENSP00000344557:G80D;ENSP00000358346:G80D	ENSP00000344557:G80D	G	+	2	0	NOTCH2NL	143984742	1.000000	0.71417	0.997000	0.53966	0.256000	0.26092	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	GGC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		7	1385	0	0	0	1	0	7	1385					A	145273385	G	A	145273385	3	1	110	1	0	0	0	0	1	0	0	0	10591	1203	42	2	245	2	NOTCH2NL	1	145273385	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	447969	145273385	103977236	10	36375											
KIAA0907	22889	broad.mit.edu	37	chr1	155887343	155887343	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtagctcctctgtgaatcGtctcttctgtgcctggggct	12	11	3	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:155887343G>A	ENST00000368321.3	-	11	1410	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Nonsense_Mutation_p.R463*	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	463							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)			TCTGTGAATCGTCTCTTCTGT	0.532																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1387-1389)Cga>Tga		KIAA0907							112	123	119					1																	155887343		2203	4300	6503	SO:0001587	stop_gained	22889							g.chr1:155887343G>A	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.1387C>T	1.37:g.155887343G>A	ENSP00000357304:p.Arg463*					KIAA0907_ENST00000368321.3_Nonsense_Mutation_p.R463*	p.R463*			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1412	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		463					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Nonsense_Mutation	SNP	ENST00000368321.3	37	c.1387C>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	37	6.607568	0.97701	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	.	.	.	5.87	1.66	0.24008	.	0.057445	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6517	10.0721	0.42339	0.0629:0.0:0.5911:0.346	.	.	.	.	X	463	.	ENSP00000357303:R463X	R	-	1	2	KIAA0907	154153967	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	5.292000	0.65673	0.468000	0.27243	0.655000	0.94253	CGA		0.532	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		6	555	0	0	0	1	0	6	555					A	155887343	G	A	155887343	4	1	110	1	0	0	0	0	0	1	0	0	8229	1153	40	1	473	1	KIAA0907	1	155887343	Nonsense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	10613958	155887343	93363278	11	36376											
HMCN1	83872	broad.mit.edu	37	chr1	186050343	186050343	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaatcctttgttagtgccGccaattatcaagggagcaaa	9	9	1	0	rs532472487		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2868	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTTAGTGCCGCCAATTATCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8602-8604)ccG>ccA		hemicentin 1							164	161	162					1																	186050343		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186050343G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8604G>A	1.37:g.186050343G>A						HMCN1_ENST00000367492.2_Silent_p.P2868P	p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			56	8833	+			2868			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8604G>A	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		6	831	0	0	0	1	0	6	831					A	186050343	G	A	186050343	2	1	110	1	0	0	0	0	0	0	0	1	7250	1074	38	1		1	HMCN1	1	186050343	Silent	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	30163000	186050343	63200278	12	36377											
EPHX1	2052	broad.mit.edu	37	chr1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-													tccacttcatccacgtgaagCccccccagctgcccgcaggc							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:226026384delC	ENST00000366837.4	+	4	590	c.394delC	c.(394-396)cccfs	p.P133fs	EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	133					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(394-396)ccfs		epoxide hydrolase 1, microsomal (xenobiotic)							79	90	87					1																	226026384		2203	4300	6503	SO:0001589	frameshift_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026384delC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.394delC	1.37:g.226026384delC	ENSP00000355802:p.Pro133fs					EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs	p.P133fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	590	+	Breast(184;0.197)		133					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Frame_Shift_Del	DEL	ENST00000366837.4	37	c.394delC	CCDS1547.1																																																																																				0.627	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		7	693						7	693	---	---	---	---	-	226026384	C	-	226026384	7	5	110	1	0	1	0	1	0	0	0	0	5197	739	26	0	404	0	EPHX1	1	226026384	Frame_Shift_Del	DEL	C	TCGA-RL-AAAS-01A-32D-A397-08	39976041	226026384	23224237	13	36378											
OR2T11	127077	broad.mit.edu	37	chr1	248790026	248790026	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaaagacacttcttgCggttcatcaggactgggtat	10	10	3	1	rs150548690		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr1:248790026C>T	ENST00000330803.2	-	1	465	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACTTCTTGCGGTTCATCAG	0.547																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(403-405)cGc>cAc		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)		C	HIS/ARG	0,4104		0,0,2052	47	55	52		404	-5.7	0	1	dbSNP_134	52	1,8463		0,1,4231	no	missense	OR2T11	NM_001001964.1	29	0,1,6283	TT,TC,CC		0.0118,0.0,0.0080	benign	135/317	248790026	1,12567	2052	4232	6284	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790026C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.404G>A	1.37:g.248790026C>T	ENSP00000328934:p.Arg135His						p.R135H	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	465	-	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)		135					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.404G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.015331	0.00422	0.0	1.18E-4	ENSG00000183130	ENST00000330803	T	0.25250	1.81	4.38	-5.68	0.02436	GPCR, rhodopsin-like superfamily (1);	0.947310	0.08686	N	0.908658	T	0.08447	0.0210	N	0.10837	0.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35151	-0.9800	10	0.10902	T	0.67	.	2.4794	0.04583	0.2046:0.2037:0.1007:0.491	.	135	Q8NH01	O2T11_HUMAN	H	135	ENSP00000328934:R135H	ENSP00000328934:R135H	R	-	2	0	OR2T11	246856649	0.000000	0.05858	0.012000	0.15200	0.082000	0.17680	-0.485000	0.06520	-1.147000	0.02851	-0.877000	0.02976	CGC		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		5	254	0	0	0	1	0	5	254					T	248790026	C	T	248790026	3	4	110	1	0	0	0	0	1	0	0	0	11060	768	27	1	550	1	OR2T11	1	248790026	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	22763642	248790026	460595	14	36379											
POLR1A	25885	broad.mit.edu	37	chr2	86297307	86297307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttctcttcaggcaggatgCgggcacggtgggcctggatg	16	10	2	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:86297307C>T	ENST00000263857.6	-	13	2078	c.1700G>A	c.(1699-1701)cGc>cAc	p.R567H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R567H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	567					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						AGGCAGGATGCGGGCACGGTG	0.572																																						ENST00000263857.6																			0				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						c.(1699-1701)cGc>cAc		polymerase (RNA) I polypeptide A, 194kDa							62	69	66					2																	86297307		2118	4217	6335	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86297307C>T	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.1700G>A	2.37:g.86297307C>T	ENSP00000263857:p.Arg567His					POLR1A_ENST00000409681.1_Missense_Mutation_p.R567H	p.R567H			O95602	RPA1_HUMAN			13	2078	-			567					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1700G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703897	0.68501	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.79033	-1.23;-1.23	5.3	4.41	0.53225	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.051169	0.85682	N	0.000000	T	0.80884	0.4709	M	0.87827	2.91	0.58432	D	0.999997	P	0.38978	0.652	B	0.38106	0.265	T	0.83283	-0.0037	10	0.66056	D	0.02	-13.2333	13.9604	0.64175	0.0:0.9251:0.0:0.0749	.	567	O95602	RPA1_HUMAN	H	567	ENSP00000263857:R567H;ENSP00000386300:R567H	ENSP00000263857:R567H	R	-	2	0	POLR1A	86150818	1.000000	0.71417	0.994000	0.49952	0.891000	0.51852	4.655000	0.61476	1.207000	0.43291	0.655000	0.94253	CGC		0.572	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		4	173	0	0	0	1	0	4	173					T	86297307	C	T	86297307	3	4	110	1	0	0	0	0	1	0	0	0	12251	768	27	1	3550	1	POLR1A	2	86297307	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08		86297307	156902066	15	36380											
UXS1	80146	broad.mit.edu	37	chr2	106721288	106721288	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgtctgagacccggatccGtatacctggaaggaaaccaa	10	11	1	1	rs186147515		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:106721288G>A	ENST00000409501.3	-	11	927	c.870C>T	c.(868-870)taC>taT	p.Y290Y	UXS1_ENST00000283148.7_Silent_p.Y295Y|UXS1_ENST00000540130.1_Silent_p.Y233Y|UXS1_ENST00000409032.1_Silent_p.Y122Y|UXS1_ENST00000428048.2_Silent_p.Y134Y			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	290					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						ACCCGGATCCGTATACCTGGA	0.552											OREG0014864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		15466	0.001		0.0	False		,,,				2504	0.0					ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(883-885)taC>taT		UDP-glucuronate decarboxylase 1		G		0,3942		0,0,1971	161	156	157		870	-7.8	0.8	2		157	1,8315		0,1,4157	no	coding-synonymous	UXS1	NM_025076.3		0,1,6128	AA,AG,GG		0.012,0.0,0.0082		290/421	106721288	1,12257	1971	4158	6129	SO:0001819	synonymous_variant	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106721288G>A	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.870C>T	2.37:g.106721288G>A			OREG0014864	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1399	UXS1_ENST00000409501.3_Silent_p.Y290Y|UXS1_ENST00000540130.1_Silent_p.Y233Y|UXS1_ENST00000428048.2_Silent_p.Y134Y|UXS1_ENST00000409032.1_Silent_p.Y122Y	p.Y295Y	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			11	982	-			290					Q8NBX3|Q9H5C2	Silent	SNP	ENST00000409501.3	37	c.885C>T	CCDS46378.1																																																																																				0.552	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		5	508	0	0	0	1	0	5	508					A	106721288	G	A	106721288	2	1	110	1	0	0	0	0	0	0	0	1	17163	1140	40	1		1	UXS1	2	106721288	Silent	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	20423981	106721288	136478085	16	36381											
WDR33	55339	broad.mit.edu	37	chr2	128476956	128476956	+	Frame_Shift_Del	DEL	G	G	-													ttctgctgtccctgaggtccGgggggtccttgcatgccacc							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:128476956delG	ENST00000322313.4	-	16	2801	c.2643delC	c.(2641-2643)cccfs	p.P881fs		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)		CCTGAGGTCCGGGGGGTCCTT	0.627																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2641-2643)ccfs		WD repeat domain 33							77	84	82					2																	128476956		2203	4300	6503	SO:0001589	frameshift_variant	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128476956delG		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.2643delC	2.37:g.128476956delG	ENSP00000325377:p.Pro881fs						p.P881fs	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2801	-	Colorectal(110;0.1)		881					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	ENST00000322313.4	37	c.2643delC	CCDS2150.1																																																																																				0.627	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		7	489						7	489	---	---	---	---	-	128476956	G	-	128476956	7	5	110	1	0	1	0	1	0	0	0	0	17341	1103	39	0	1395	0	WDR33	2	128476956	Frame_Shift_Del	DEL	G	TCGA-RL-AAAS-01A-32D-A397-08	21755668	128476956	114722417	17	36382											
ACVR2A	92	broad.mit.edu	37	chr2	148657040	148657041	+	Frame_Shift_Ins	INS	-	-	A													ttataggactgattgtgtagINSaaaaaaaagacagccctgaa							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:148657040_148657041insA	ENST00000241416.7	+	3	913_914	c.277_278insA	c.(277-279)gaafs	p.E93fs	ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.E93fs|ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGATTGTGTAGAAAAAAAAGAC	0.302																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(277-279)aaafs		activin A receptor, type IIA																																				SO:0001589	frameshift_variant	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148657040_148657041insA		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.285dupA	2.37:g.148657048_148657048dupA	ENSP00000241416:p.Glu93fs					ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs	p.K93fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	3	913_914	+			93					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Ins	INS	ENST00000241416.7	37	c.277_278insA	CCDS33301.1																																																																																				0.302	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		11	405						11	405	---	---	---	---	A	148657041	-	A	148657040	7	5	110	1	0	1	1	0	0	0	0	0	223	943	33	0	287	0	ACVR2A	2	148657040	Frame_Shift_Ins	INS	-	TCGA-RL-AAAS-01A-32D-A397-08	20180084	148657040	94542333	18	36383											
TTN	7273	broad.mit.edu	37	chr2	179404642	179404642	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctgatgacgccaccttgcCttacaaagataccttcttgg	8	12	2	3			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:179404642C>T	ENST00000591111.1	-	302	93451	c.93227G>A	c.(93226-93228)aGg>aAg	p.R31076K	TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23844K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R32717K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23777K|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23652K|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30149K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31076	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.R30147K(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)			GCCACCTTGCCTTACAAAGAT	0.408																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.R30147K(1)	stomach(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(98149-98151)aGg>aAg		titin							124	113	117					2																	179404642		1922	4141	6063	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179404642C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93227G>A	2.37:g.179404642C>T	ENSP00000465570:p.Arg31076Lys					TTN_ENST00000591111.1_Missense_Mutation_p.R31076K|TTN_ENST00000342992.6_Missense_Mutation_p.R30149K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23844K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23777K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23652K|TTN-AS1_ENST00000586831.1_RNA	p.R32717K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		352	98374	-			31076					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98150G>A		.	.	.	.	.	.	.	.	.	.	C	18.17	3.565000	0.65651	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73505	0.3595	L	0.33293	1	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.73883	-0.3842	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23652;23777;23844;31076	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	30149;23652;23844;23777;23649	ENSP00000343764:R30149K;ENSP00000434586:R23652K;ENSP00000340554:R23844K;ENSP00000352154:R23777K	ENSP00000340554:R23844K	R	-	2	0	TTN	179112888	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.625000	0.83145	2.941000	0.99782	0.655000	0.94253	AGG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	482	0	0	0	1	0	5	482					T	179404642	C	T	179404642	3	4	110	1	0	0	0	0	1	0	0	0	16789	681	24	2	9873	2	TTN	2	179404642	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	30747602	179404642	63794731	19	36384											
ADAM23	8745	broad.mit.edu	37	chr2	207422163	207422163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccccctagtataagaagcatCgctcttctcatgcacatacc	5	15	2	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr2:207422163C>T	ENST00000264377.3	+	10	1274	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	ADAM23_ENST00000374416.1_Missense_Mutation_p.R316C|ADAM23_ENST00000374415.3_Missense_Mutation_p.R316C	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	316	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				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)		TAAGAAGCATCGCTCTTCTCA	0.378																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				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						c.(946-948)Cgc>Tgc		ADAM metallopeptidase domain 23							232	212	219					2																	207422163		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207422163C>T	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.946C>T	2.37:g.207422163C>T	ENSP00000264377:p.Arg316Cys					ADAM23_ENST00000374415.3_Missense_Mutation_p.R316C|ADAM23_ENST00000374416.1_Missense_Mutation_p.R316C	p.R316C	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	10	1274	+			316			Peptidase M12B.		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.946C>T	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476198	0.84640	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.10099	2.91;2.91;2.91	5.83	5.83	0.93111	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000009	T	0.33876	0.0878	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.00756	-1.1579	10	0.72032	D	0.01	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	316	O75077	ADA23_HUMAN	C	316;316;210;316	ENSP00000264377:R316C;ENSP00000363537:R316C;ENSP00000363536:R316C	ENSP00000264377:R316C	R	+	1	0	ADAM23	207130408	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.995000	0.49441	2.756000	0.94617	0.655000	0.94253	CGC		0.378	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		9	603	0	0	0	1	0	9	603					T	207422163	C	T	207422163	3	4	110	1	0	0	0	0	1	0	0	0	245	884	31	1	984	1	ADAM23	2	207422163	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	28017521	207422163	35777210	20	36385											
GRM2	2912	broad.mit.edu	37	chr3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgctttttgcactggaccGcatcaaccgtgacccgcacc	8	16	1	1	rs200502357		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000442933.2_Missense_Mutation_p.R71H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					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)		GCACTGGACCGCATCAACCGT	0.632																																						ENST00000395052.3																			0				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						c.(211-213)cGc>cAc		glutamate receptor, metabotropic 2	Acamprosate(DB00659)|Nicotine(DB00184)						127	115	119					3																	51743211		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743211G>A	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.212G>A	3.37:g.51743211G>A	ENSP00000378492:p.Arg71His					GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H	p.R71H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	446	+			71					B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.212G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247197	0.80024	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86497	-2.13;-2.13	5.28	4.41	0.53225	Extracellular ligand-binding receptor (1);	0.167226	0.46758	D	0.000274	T	0.81093	0.4751	L	0.56199	1.76	0.42153	D	0.991563	B	0.28419	0.211	B	0.21917	0.037	T	0.78252	-0.2276	10	0.62326	D	0.03	.	5.1701	0.15105	0.2123:0.1632:0.6245:0.0	.	71	Q14416	GRM2_HUMAN	H	71	ENSP00000378492:R71H;ENSP00000408906:R71H	ENSP00000296479:R71H	R	+	2	0	GRM2	51718251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.691000	0.54720	1.245000	0.43885	-0.137000	0.14449	CGC		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			6	581	0	0	0	1	0	6	581					A	51743211	G	A	51743211	3	1	110	1	0	0	0	0	1	0	0	0	6827	1087	38	1	214	1	GRM2	3	51743211	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		51743211	146279219	21	36386											
GATA2	2624	broad.mit.edu	37	chr3	128200063	128200063	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgcactttgacagctcctcGaagcactccgcccctttctt	6	16	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:128200063G>A	ENST00000341105.2	-	6	1573	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	GATA2_ENST00000487848.1_Silent_p.F414F|GATA2_ENST00000430265.2_Silent_p.F400F|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	414					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)		ACAGCTCCTCGAAGCACTCCG	0.577			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1240-1242)ttC>ttT		GATA binding protein 2							139	125	130					3																	128200063		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200063G>A	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.1242C>T	3.37:g.128200063G>A						GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.F414F|GATA2_ENST00000430265.2_Silent_p.F400F	p.F414F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	6	1573	-			414					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.1242C>T	CCDS3049.1																																																																																				0.577	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		7	370	0	0	0	1	0	7	370					A	128200063	G	A	128200063	2	1	110	1	0	0	0	0	0	0	0	1	6282	1049	37	1		1	GATA2	3	128200063	Silent	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	76456852	128200063	69822367	22	36387											
SLC7A14	57709	broad.mit.edu	37	chr3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacccacaaagcaccagaccGcaaaccggatccatgtgatg	8	14	0	2	rs200600060		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	659					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498																																						ENST00000231706.4																			1	Substitution - Missense(1)	p.A659V(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1975-1977)gCg>gTg		solute carrier family 7, member 14		G	VAL/ALA	0,4406		0,0,2203	101	107	105		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198095G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val					CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	p.A659V	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2291	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		659					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1976C>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		5	406	0	0	0	1	0	5	406					A	170198095	G	A	170198095	3	1	110	1	0	0	0	0	1	0	0	0	14746	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	41998032	170198095	27824335	23	36388											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	226						7	226	---	---	---	---	-	56304532	CTG	-	56304530	7	5	110	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-RL-AAAS-01A-32D-A397-08		56304530	134849746	24	36389											
GSTCD	79807	broad.mit.edu	37	chr4	106639104	106639104	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttgtattgagacacAtaatccagaaatcctatgaa	7	7	0	3	rs199886614		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:106639104A>T	ENST00000515279.1	+	2	554	c.334A>T	c.(334-336)Ata>Tta	p.I112L	GSTCD_ENST00000360505.5_Missense_Mutation_p.I112L|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.I112L|GSTCD_ENST00000507281.1_Intron|GSTCD_ENST00000394730.3_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	112						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)		ATTGAGACACATAATCCAGAA	0.418																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.(334-336)Ata>Tta		glutathione S-transferase, C-terminal domain containing							105	104	105					4																	106639104		2203	4300	6503	SO:0001583	missense	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106639104A>T	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.334A>T	4.37:g.106639104A>T	ENSP00000422354:p.Ile112Leu					GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.I112L|GSTCD_ENST00000394728.3_Missense_Mutation_p.I112L|GSTCD_ENST00000507281.1_Intron	p.I112L			Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	2	554	+		Hepatocellular(203;0.217)	112					A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	c.334A>T	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016189	0.75161	.	.	ENSG00000138780	ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.55	4.38	0.52667	.	0.096130	0.64402	D	0.000002	T	0.63070	0.2480	L	0.46157	1.445	0.47407	D	0.999411	D;D	0.62365	0.985;0.991	P;P	0.59643	0.729;0.861	T	0.61826	-0.6983	9	0.39692	T	0.17	-16.0174	10.883	0.46951	0.9266:0.0:0.0734:0.0	.	112;112	Q8NEC7;D6RCC9	GSTCD_HUMAN;.	L	112	.	ENSP00000353695:I112L	I	+	1	0	GSTCD	106858553	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	3.363000	0.52321	2.122000	0.65172	0.533000	0.62120	ATA		0.418	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751		6	448	0	0	0	1	0	6	448					T	106639104	A	T	106639104	3	4	110	1	0	0	0	0	1	0	0	0	6865	217	8	5	336	5	GSTCD	4	106639104	Missense_Mutation	SNP	A	TCGA-RL-AAAS-01A-32D-A397-08	50334574	106639104	84515172	25	36390											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct					rs372496848		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del|MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del	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)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	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.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			8	210						8	210	---	---	---	---	-	140810641	GCT	-	140810639	7	5	110	1	0	1	0	1	0	0	0	0	9248	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-RL-AAAS-01A-32D-A397-08	34171535	140810639	50343637	26	36391											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			7	60	0	0	0	1	0	7	60					G	149075976	T	G	149075976	2	3	110	1	0	0	0	0	0	0	0	1	10673	1683	59	4		4	NR3C2	4	149075976	Silent	SNP	T	TCGA-RL-AAAS-01A-32D-A397-08	8265337	149075976	42078300	27	36392											
SORBS2	8470	broad.mit.edu	37	chr4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-													taagaagaatacttacggttCccccccaccttgaatatttt							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr4:186515044delC	ENST00000284776.7	-	19	3639	c.3130delG	c.(3130-3132)gaafs	p.E1044fs	SORBS2_ENST00000448662.2_Frame_Shift_Del_p.E605fs|SORBS2_ENST00000319471.9_Frame_Shift_Del_p.E675fs|SORBS2_ENST00000431808.1_Frame_Shift_Del_p.E1044fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.E948fs|SORBS2_ENST00000437304.2_Frame_Shift_Del_p.E768fs|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Del_p.E588fs|SORBS2_ENST00000355634.5_Frame_Shift_Del_p.E1144fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)	p.E1044fs*8(2)|p.E605fs*8(2)		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)		ACTTACGGTTCCCCCCCACCT	0.358																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			4	Insertion - Frameshift(4)	p.E1044fs*8(2)|p.E605fs*8(2)	haematopoietic_and_lymphoid_tissue(4)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(3130-3132)aafs		sorbin and SH3 domain containing 2							112	109	110					4																	186515044		2203	4300	6503	SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515044delC		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.3130delG	4.37:g.186515044delC	ENSP00000284776:p.Glu1044fs					SORBS2_ENST00000448662.2_Frame_Shift_Del_p.E605fs|SORBS2_ENST00000355634.5_Frame_Shift_Del_p.E1144fs|SORBS2_ENST00000437304.2_Frame_Shift_Del_p.E768fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.E948fs|SORBS2_ENST00000319471.9_Frame_Shift_Del_p.E675fs|SORBS2_ENST00000284776.7_Frame_Shift_Del_p.E1044fs|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.E610fs|SORBS2_ENST00000449407.2_Frame_Shift_Del_p.E588fs	p.E1044fs			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	3693	-		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)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Del	DEL	ENST00000284776.7	37	c.3130delG	CCDS3845.1																																																																																				0.358	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		10	704						10	704	---	---	---	---	-	186515044	C	-	186515044	7	5	110	1	0	1	0	1	0	0	0	0	14978	864	30	0	184	0	SORBS2	4	186515044	Frame_Shift_Del	DEL	C	TCGA-RL-AAAS-01A-32D-A397-08	37439068	186515044	4639232	28	36393											
NIPBL	25836	broad.mit.edu	37	chr5	37001175	37001175	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatatggattttactgCgtttggtaaaatcaacttaa	9	4	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:37001175C>T	ENST00000282516.8	+	14	4158	c.3659C>T	c.(3658-3660)gCg>gTg	p.A1220V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1220V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1220					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.A1220V(4)		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)			GATTTTACTGCGTTTGGTAAA	0.333																																						ENST00000282516.8																			4	Substitution - Missense(4)	p.A1220V(4)	large_intestine(2)|lung(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						c.(3658-3660)gCg>gTg		Nipped-B homolog (Drosophila)							65	71	69					5																	37001175		2201	4293	6494	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37001175C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3659C>T	5.37:g.37001175C>T	ENSP00000282516:p.Ala1220Val					NIPBL_ENST00000448238.2_Missense_Mutation_p.A1220V	p.A1220V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		14	4158	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1220					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3659C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098459	0.56183	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93659	-3.26;-3.26	5.65	5.65	0.86999	.	0.055752	0.64402	D	0.000001	D	0.90508	0.7026	L	0.47716	1.5	0.44834	D	0.997846	B;B	0.19706	0.023;0.038	B;B	0.15870	0.004;0.014	D	0.86324	0.1694	10	0.32370	T	0.25	.	16.0229	0.80512	0.0:0.8657:0.1343:0.0	.	1220;1220	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	1220	ENSP00000282516:A1220V;ENSP00000406266:A1220V	ENSP00000282516:A1220V	A	+	2	0	NIPBL	37036932	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.364000	0.59479	2.646000	0.89796	0.655000	0.94253	GCG		0.333	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		10	428	0	0	0	1	0	10	428					T	37001175	C	T	37001175	3	4	110	1	0	0	0	0	1	0	0	0	10470	768	27	1	3709	1	NIPBL	5	37001175	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08		37001175	143914085	29	36394											
TGFBI	7045	broad.mit.edu	37	chr5	135389698	135389698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaccttttcagacaagCcggcctcggcaatcatctct	7	14	3	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:135389698C>T	ENST00000442011.2	+	9	1354	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	TGFBI_ENST00000305126.8_Missense_Mutation_p.A398V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	398	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			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)			TTCAGACAAGCCGGCCTCGGC	0.483																																						ENST00000442011.2																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1192-1194)gCc>gTc		transforming growth factor, beta-induced, 68kDa							103	105	104					5																	135389698		1924	4148	6072	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135389698C>T	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.1193C>T	5.37:g.135389698C>T	ENSP00000416330:p.Ala398Val					TGFBI_ENST00000305126.8_Missense_Mutation_p.A398V	p.A398V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		9	1354	+			398			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1193C>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510538	0.85389	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	D;D	0.91631	-2.88;-2.88	6.08	6.08	0.98989	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.95762	0.8621	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.941	D	0.93248	0.6632	10	0.25751	T	0.34	-2.3611	20.6634	0.99662	0.0:1.0:0.0:0.0	.	131;398	B9ZVW9;Q15582	.;BGH3_HUMAN	V	398;131;398	ENSP00000416330:A398V;ENSP00000306306:A398V	ENSP00000306306:A398V	A	+	2	0	TGFBI	135417597	1.000000	0.71417	0.996000	0.52242	0.338000	0.28826	7.786000	0.85741	2.894000	0.99253	0.655000	0.94253	GCC		0.483	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			7	489	0	0	0	1	0	7	489					T	135389698	C	T	135389698	3	4	110	1	0	0	0	0	1	0	0	0	15872	739	26	2	1227	2	TGFBI	5	135389698	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	98388523	135389698	45525562	30	36395											
PCDHB13	56123	broad.mit.edu	37	chr5	140595172	140595172	+	Frame_Shift_Del	DEL	C	C	-													tcacctactcgctgctgccgCcccaggacccgcacctgccc							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:140595172delC	ENST00000341948.4	+	1	1664	c.1477delC	c.(1477-1479)cccfs	p.P493fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGCCGCCCCAGGACCC	0.667																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1477-1479)ccfs									98	105	103					5																	140595172		2203	4300	6503	SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595172delC	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.1477delC	5.37:g.140595172delC	ENSP00000345491:p.Pro493fs						p.P493fs	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1664	+			493			Cadherin 5.		A8K9V6	Frame_Shift_Del	DEL	ENST00000341948.4	37	c.1477delC	CCDS4255.1																																																																																				0.667	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		7	713						7	713	---	---	---	---	-	140595172	C	-	140595172	7	5	110	1	0	1	0	1	0	0	0	0	11580	739	26	0	1479	0	PCDHB13	5	140595172	Frame_Shift_Del	DEL	C	TCGA-RL-AAAS-01A-32D-A397-08	5205474	140595172	40320088	31	36396											
PCDHB13	56123	broad.mit.edu	37	chr5	140595249	140595249	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cacctgttcgccctcaggtcTctggactacgaggccctgca	10	16	2	0	rs144959109	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:140595249T>C	ENST00000341948.4	+	1	1741	c.1554T>C	c.(1552-1554)tcT>tcC	p.S518S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	518	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)	p.S518S(1)		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)			CCCTCAGGTCTCTGGACTACG	0.692																																						ENST00000341948.4																			1	Substitution - coding silent(1)	p.S518S(1)	kidney(1)	NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1552-1554)tcT>tcC									89	96	93					5																	140595249		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595249T>C	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.1554T>C	5.37:g.140595249T>C							p.S518S	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1741	+			518			Cadherin 5.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.1554T>C	CCDS4255.1																																																																																				0.692	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		5	580	0	0	0	1	0	5	580					C	140595249	T	C	140595249	2	2	110	1	0	0	0	0	0	0	0	1	11580	1538	54	4		4	PCDHB13	5	140595249	Silent	SNP	T	TCGA-RL-AAAS-01A-32D-A397-08	77	140595249	40320011	32	36397											
DRD1	1812	broad.mit.edu	37	chr5	174869336	174869336	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acatcttaaaagaactttccGgttgagaacattcgacaggc	8	9	1	2	rs182894202		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr5:174869336G>A	ENST00000393752.2	-	2	1759	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	256					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)	p.P256L(1)		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)	AGAACTTTCCGGTTGAGAACA	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20975	0.0		0.0	False		,,,				2504	0.0					ENST00000393752.2																			1	Substitution - Missense(1)	p.P256L(1)	endometrium(1)	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						c.(766-768)cCg>cTg		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	87	91	90		767	5.4	0	5		90	0,8600		0,0,4300	no	missense	DRD1	NM_000794.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	256/447	174869336	1,13005	2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869336G>A	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.767C>T	5.37:g.174869336G>A	ENSP00000377353:p.Pro256Leu						p.P256L	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1759	-	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)	256					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.767C>T	CCDS4393.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.946	0.743844	0.15642	2.27E-4	0.0	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.69806	-0.43	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.231220	0.44688	D	0.000423	T	0.57917	0.2086	L	0.31845	0.965	0.58432	D	0.999995	B	0.12630	0.006	B	0.10450	0.005	T	0.50882	-0.8775	10	0.24483	T	0.36	.	18.5838	0.91181	0.0:0.0:1.0:0.0	.	256	P21728	DRD1_HUMAN	L	256	ENSP00000377353:P256L	ENSP00000327652:P256L	P	-	2	0	DRD1	174801942	1.000000	0.71417	0.040000	0.18447	0.242000	0.25591	4.683000	0.61679	2.697000	0.92050	0.650000	0.86243	CCG		0.478	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		7	285	0	0	0	1	0	7	285					A	174869336	G	A	174869336	3	1	110	1	0	0	0	0	1	0	0	0	4772	1116	39	1	577	1	DRD1	5	174869336	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	34274087	174869336	6045924	33	36398											
RREB1	6239	broad.mit.edu	37	chr6	7229722	7229722	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcccatctctggcgagtcgGccatcgagctggcagacatc	12	14	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:7229722G>A	ENST00000349384.6	+	10	1704	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	RREB1_ENST00000379938.2_Missense_Mutation_p.A464T|RREB1_ENST00000334984.6_Missense_Mutation_p.A464T|RREB1_ENST00000379933.3_Missense_Mutation_p.A464T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	464					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGGCGAGTCGGCCATCGAGCT	0.597																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1390-1392)Gcc>Acc		ras responsive element binding protein 1							76	81	79					6																	7229722		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229722G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1390G>A	6.37:g.7229722G>A	ENSP00000305560:p.Ala464Thr					RREB1_ENST00000334984.6_Missense_Mutation_p.A464T|RREB1_ENST00000379933.3_Missense_Mutation_p.A464T|RREB1_ENST00000349384.6_Missense_Mutation_p.A464T	p.A464T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1927	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	464					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1390G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506082	0.44558	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.11821	2.85;2.81;2.85;2.74;2.85	5.67	5.67	0.87782	.	0.000000	0.47852	D	0.000210	T	0.26340	0.0643	L	0.60455	1.87	0.44254	D	0.997107	D;D;P	0.71674	0.998;0.997;0.782	D;D;B	0.81914	0.995;0.989;0.223	T	0.00345	-1.1801	10	0.52906	T	0.07	-41.8161	16.9188	0.86158	0.0:0.0:1.0:0.0	.	464;464;464	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	T	464	ENSP00000369265:A464T;ENSP00000369270:A464T;ENSP00000305560:A464T;ENSP00000335574:A464T;ENSP00000419511:A464T	ENSP00000335574:A464T	A	+	1	0	RREB1	7174721	1.000000	0.71417	0.869000	0.34112	0.201000	0.24016	5.446000	0.66600	2.666000	0.90696	0.561000	0.74099	GCC		0.597	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	575	0	0	0	1	0	5	575					A	7229722	G	A	7229722	3	1	110	1	0	0	0	0	1	0	0	0	13729	1203	42	2	1416	2	RREB1	6	7229722	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		7229722	163885345	34	36399											
ITPR3	3710	broad.mit.edu	37	chr6	33639869	33639869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccaccatggtgctgagccGcaagcagtccgtcttcagtg	12	13	2	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:33639869G>A	ENST00000374316.5	+	23	3852	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R931H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	931					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)	GTGCTGAGCCGCAAGCAGTCC	0.612																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2791-2793)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							91	80	84					6																	33639869		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33639869G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2792G>A	6.37:g.33639869G>A	ENSP00000363435:p.Arg931His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R931H	p.R931H			Q14573	ITPR3_HUMAN			23	3852	+			931					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2792G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307079	0.95629	.	.	ENSG00000096433	ENST00000374316	D	0.92149	-2.98	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.92958	0.7759	L	0.32530	0.975	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.92955	0.6384	10	0.48119	T	0.1	-24.547	19.3138	0.94204	0.0:0.0:1.0:0.0	.	931	Q14573	ITPR3_HUMAN	H	931	ENSP00000363435:R931H	ENSP00000363435:R931H	R	+	2	0	ITPR3	33747847	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.377000	0.79668	2.561000	0.86390	0.655000	0.94253	CGC		0.612	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		5	225	0	0	0	1	0	5	225					A	33639869	G	A	33639869	3	1	110	1	0	0	0	0	1	0	0	0	7952	1087	38	1	2878	1	ITPR3	6	33639869	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	26410147	33639869	137475198	35	36400											
CD2AP	23607	broad.mit.edu	37	chr6	47576961	47576961	+	Frame_Shift_Del	DEL	A	A	-													aagtggaaacagatgatgtgAaaaaaaattccctggatgaa							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:47576961delA	ENST00000359314.5	+	16	2191	c.1735delA	c.(1735-1737)aaafs	p.K580fs	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	580					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGATGATGTGAAAAAAAATTC	0.388																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1735-1737)aafs		CD2-associated protein							95	91	92					6																	47576961		2203	4300	6503	SO:0001589	frameshift_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47576961delA	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1735delA	6.37:g.47576961delA	ENSP00000352264:p.Lys580fs					CD2AP_ENST00000486693.1_3'UTR	p.K580fs	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		16	2191	+			580					A6NL34|Q5VYA3|Q9UG97	Frame_Shift_Del	DEL	ENST00000359314.5	37	c.1735delA	CCDS34472.1																																																																																				0.388	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			7	444						7	444	---	---	---	---	-	47576961	A	-	47576961	7	5	110	1	0	1	0	1	0	0	0	0	3003	247	9	0	1797	0	CD2AP	6	47576961	Frame_Shift_Del	DEL	A	TCGA-RL-AAAS-01A-32D-A397-08	13937092	47576961	123538106	36	36401											
GJA10	84694	broad.mit.edu	37	chr6	90604777	90604777	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaacctccttgccccaatgCggtggattgctttgtatcca	8	13	1	0	rs201885767		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:90604777C>T	ENST00000369352.1	+	1	590	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	197					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TGCCCCAATGCGGTGGATTGC	0.423																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(589-591)gCg>gTg		gap junction protein, alpha 10, 62kDa		C	VAL/ALA	0,4406		0,0,2203	132	131	131		590	2.1	1	6		131	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GJA10	NM_032602.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	197/544	90604777	1,13005	2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604777C>T	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.590C>T	6.37:g.90604777C>T	ENSP00000358358:p.Ala197Val						p.A197V	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	590	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	197					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.590C>T	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669222	0.29604	0.0	1.16E-4	ENSG00000135355	ENST00000369352	D	0.95069	-3.6	4.91	2.11	0.27256	Gap junction protein, cysteine-rich domain (1);Connexin, conserved site (1);	0.692451	0.14550	N	0.312725	T	0.68476	0.3005	N	0.01464	-0.85	0.18873	N	0.999984	B	0.25351	0.124	B	0.29598	0.104	T	0.66069	-0.6015	10	0.17832	T	0.49	.	8.5338	0.33351	0.0:0.6956:0.0:0.3044	.	197	Q969M2	CXA10_HUMAN	V	197	ENSP00000358358:A197V	ENSP00000358358:A197V	A	+	2	0	GJA10	90661498	0.001000	0.12720	0.981000	0.43875	0.987000	0.75469	0.341000	0.19909	0.680000	0.31366	0.563000	0.77884	GCG		0.423	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		7	871	0	0	0	1	0	7	871					T	90604777	C	T	90604777	3	4	110	1	0	0	0	0	1	0	0	0	6430	768	27	1	592	1	GJA10	6	90604777	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	43027816	90604777	80510290	37	36402											
EPB41L2	2037	broad.mit.edu	37	chr6	131199279	131199279	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggacagaggtgtgatacgtcGtttttcccattcattagggc	12	8	1	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:131199279G>A	ENST00000337057.3	-	14	2189	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.R670*|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.R48*|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Nonsense_Mutation_p.R69*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	670	Spectrin--actin-binding.				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)		GTGATACGTCGTTTTTCCCAT	0.443																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2008-2010)Cga>Tga		erythrocyte membrane protein band 4.1-like 2							214	188	197					6																	131199279		2203	4300	6503	SO:0001587	stop_gained	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131199279G>A	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.2008C>T	6.37:g.131199279G>A	ENSP00000338481:p.Arg670*					EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530757.1_Nonsense_Mutation_p.R69*|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.R670*|EPB41L2_ENST00000524581.1_Nonsense_Mutation_p.R48*|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron	p.R670*	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	14	2189	-	Breast(56;0.0639)		670			Spectrin--actin-binding.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Nonsense_Mutation	SNP	ENST00000337057.3	37	c.2008C>T	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.750587|15.750587	0.99844|0.99844	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000337057;ENST00000257986;ENST00000530757;ENST00000368128;ENST00000524581;ENST00000527017;ENST00000527423;ENST00000525198|ENST00000456097	.|.	.|.	.|.	5.89|5.89	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.64789	.|0.2630	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66056	.|-0.6018	.|4	0.02654|.	T|.	1|.	.|.	16.4336|16.4336	0.83861|0.83861	0.0:0.0:0.8675:0.1325|0.0:0.0:0.8675:0.1325	.|.	.|.	.|.	.|.	X|M	670;15;69;670;48;48;69;48|160	.|.	ENSP00000257986:R15X|.	R|T	-|-	1|2	2|0	EPB41L2|EPB41L2	131240972|131240972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	9.230000|9.230000	0.95299|0.95299	1.476000|1.476000	0.48215|0.48215	-0.182000|-0.182000	0.12963|0.12963	CGA|ACG		0.443	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			7	319	0	0	0	1	0	7	319					A	131199279	G	A	131199279	4	1	110	1	0	0	0	0	0	1	0	0	5171	1153	40	1	1033	1	EPB41L2	6	131199279	Nonsense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	40594502	131199279	39915788	38	36403											
KIAA1244	57221	broad.mit.edu	37	chr6	138584253	138584253	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgccagccatcccagagggtAaggagacgctgagcaaagta	13	11	0	3			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr6:138584253A>G	ENST00000251691.4	+	12	1799	c.1633A>G	c.(1633-1635)Aag>Gag	p.K545E		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)		CCCAGAGGGTAAGGAGACGCT	0.547																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1633-1635)Aag>Gag		KIAA1244							49	43	45					6																	138584253		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584253A>G	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.1633A>G	6.37:g.138584253A>G	ENSP00000251691:p.Lys545Glu						p.K545E	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1799	+	Breast(32;0.135)		545						Missense_Mutation	SNP	ENST00000251691.4	37	c.1633A>G	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013861	0.35511	.	.	ENSG00000112379	ENST00000251691	T	0.18174	2.23	5.32	5.32	0.75619	.	1.634890	0.02838	N	0.127640	T	0.06371	0.0164	N	0.24115	0.695	0.28721	N	0.903022	B	0.10296	0.003	B	0.06405	0.002	T	0.27839	-1.0062	10	0.31617	T	0.26	-31.4214	13.8592	0.63550	1.0:0.0:0.0:0.0	.	545	Q5TH69	BIG3_HUMAN	E	545	ENSP00000251691:K545E	ENSP00000251691:K545E	K	+	1	0	KIAA1244	138625946	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	3.619000	0.54196	2.008000	0.58898	0.533000	0.62120	AAG		0.547	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	147	0	0	0	1	0	6	147					G	138584253	A	G	138584253	3	3	110	1	0	0	0	0	1	0	0	0	8247	363	13	4	1679	4	KIAA1244	6	138584253	Missense_Mutation	SNP	A	TCGA-RL-AAAS-01A-32D-A397-08	7384974	138584253	32530814	39	36404											
SLC29A4	222962	broad.mit.edu	37	chr7	5338650	5338650	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cccggccctggcccccaacgAgtccccaaaggacagcccag	10	20	0	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:5338650A>G	ENST00000396872.3	+	8	1075	c.914A>G	c.(913-915)gAg>gGg	p.E305G	SLC29A4_ENST00000297195.4_Missense_Mutation_p.E305G|SLC29A4_ENST00000406453.3_Missense_Mutation_p.E291G			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	305					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)	GCCCCCAACGAGTCCCCAAAG	0.692																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(913-915)gAg>gGg		solute carrier family 29 (equilibrative nucleoside transporter), member 4							18	24	22					7																	5338650		2195	4296	6491	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5338650A>G	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.914A>G	7.37:g.5338650A>G	ENSP00000380081:p.Glu305Gly					SLC29A4_ENST00000297195.4_Missense_Mutation_p.E305G|SLC29A4_ENST00000406453.3_Missense_Mutation_p.E291G	p.E305G	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	8	1075	+		Ovarian(82;0.0175)	305					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.914A>G	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	.	2.121	-0.401351	0.04865	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.67865	-0.29;-0.29;-0.29	3.54	1.68	0.24146	Major facilitator superfamily domain, general substrate transporter (1);	0.318703	0.32719	N	0.005735	T	0.33294	0.0858	N	0.02011	-0.69	0.19945	N	0.999949	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20605	-1.0270	10	0.21014	T	0.42	-7.857	7.3564	0.26721	0.2967:0.0:0.7033:0.0	.	291;305	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	G	305;305;291	ENSP00000380081:E305G;ENSP00000297195:E305G;ENSP00000385845:E291G	ENSP00000297195:E305G	E	+	2	0	SLC29A4	5305176	0.967000	0.33354	0.545000	0.28153	0.329000	0.28539	1.040000	0.30278	0.015000	0.14971	-0.464000	0.05259	GAG		0.692	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		7	142	0	0	0	1	0	7	142					G	5338650	A	G	5338650	3	3	110	1	0	0	0	0	1	0	0	0	14587	304	11	4	940	4	SLC29A4	7	5338650	Missense_Mutation	SNP	A	TCGA-RL-AAAS-01A-32D-A397-08		5338650	153800013	40	36405											
GARS	2617	broad.mit.edu	37	chr7	30656770	30656770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaggctatttcattggccGcatctacctctacctcacga	6	13	4	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:30656770G>A	ENST00000389266.3	+	10	1476	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	412					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)	p.R412H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCATTGGCCGCATCTACCTC	0.433																																						ENST00000389266.3																			1	Substitution - Missense(1)	p.R412H(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1234-1236)cGc>cAc		glycyl-tRNA synthetase	Glycine(DB00145)						179	167	171					7																	30656770		1932	4138	6070	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30656770G>A	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.1235G>A	7.37:g.30656770G>A	ENSP00000373918:p.Arg412His						p.R412H	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			10	1476	+			412					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.1235G>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303525	0.95601	.	.	ENSG00000106105	ENST00000389266	T	0.79247	-1.25	5.22	5.22	0.72569	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	0.89525	0.6740	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91138	0.4943	10	0.87932	D	0	-10.2399	16.6573	0.85232	0.0:0.0:1.0:0.0	.	412	P41250	SYG_HUMAN	H	412	ENSP00000373918:R412H	ENSP00000373918:R412H	R	+	2	0	GARS	30623295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC		0.433	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		6	441	0	0	0	1	0	6	441					A	30656770	G	A	30656770	3	1	110	1	0	0	0	0	1	0	0	0	6270	1087	38	1	1273	1	GARS	7	30656770	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	25318120	30656770	128481893	41	36406											
DTX2	113878	broad.mit.edu	37	chr7	76111993	76111993	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caaccagctcgtggacttggCccccctggggtacaactaca	10	15	0	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:76111993C>T	ENST00000324432.5	+	5	947	c.437C>T	c.(436-438)gCc>gTc	p.A146V	DTX2_ENST00000446600.1_Missense_Mutation_p.A55V|DTX2_ENST00000430490.2_Missense_Mutation_p.A146V|DTX2_ENST00000307569.8_Missense_Mutation_p.A146V|DTX2_ENST00000413936.2_Missense_Mutation_p.A146V|DTX2_ENST00000446820.2_Missense_Mutation_p.A146V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	146	WWE 2. {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						GTGGACTTGGCCCCCCTGGGG	0.627																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(436-438)gCc>gTc		deltex homolog 2 (Drosophila)							50	42	45					7																	76111993		2203	4298	6501	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76111993C>T		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.437C>T	7.37:g.76111993C>T	ENSP00000322885:p.Ala146Val					DTX2_ENST00000446820.2_Missense_Mutation_p.A146V|DTX2_ENST00000430490.2_Missense_Mutation_p.A146V|DTX2_ENST00000413936.2_Missense_Mutation_p.A146V|DTX2_ENST00000446600.1_Missense_Mutation_p.A55V|DTX2_ENST00000307569.8_Missense_Mutation_p.A146V	p.A146V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	947	+			146			WWE 2.		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.437C>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.271728	0.80469	.	.	ENSG00000091073	ENST00000324432;ENST00000307569;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490;ENST00000446820	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.5	0.54988	WWE domain (2);WWE domain, subgroup (1);	0.247969	0.39985	N	0.001201	T	0.49966	0.1588	L	0.43152	1.355	0.30801	N	0.739917	P;P;P	0.50066	0.837;0.9;0.931	P;B;P	0.54965	0.562;0.295;0.765	T	0.57376	-0.7822	10	0.66056	D	0.02	-14.698	13.9949	0.64390	0.0:0.5726:0.4274:0.0	.	55;146;146	F5GX89;Q86UW9-2;Q86UW9	.;.;DTX2_HUMAN	V	146;146;55;55;146;146;146	ENSP00000322885:A146V;ENSP00000305242:A146V;ENSP00000397648:A55V;ENSP00000390218:A146V;ENSP00000411986:A146V;ENSP00000392545:A146V	ENSP00000305242:A146V	A	+	2	0	AC005522.1	75949929	0.913000	0.31002	0.850000	0.33497	0.937000	0.57800	1.464000	0.35288	1.245000	0.43885	0.561000	0.74099	GCC		0.627	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			4	150	0	0	0	1	0	4	150					T	76111993	C	T	76111993	3	4	110	1	0	0	0	0	1	0	0	0	4810	739	26	2	443	2	DTX2	7	76111993	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	45455223	76111993	83026670	42	36407											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654964	99654964	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcattgcccggagaGcgctgaagaggctgtcactc	15	11	1	3			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:99654964G>T	ENST00000292450.4	+	2	499	c.335G>T	c.(334-336)aGc>aTc	p.S112I	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.S112I|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.S112I|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	112	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGCCCGGAGAGCGCTGAAGAG	0.587																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(334-336)aGc>aTc		zinc finger and SCAN domain containing 21							32	32	32					7																	99654964		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654964G>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.335G>T	7.37:g.99654964G>T	ENSP00000292450:p.Ser112Ile					ZSCAN21_ENST00000456748.2_Missense_Mutation_p.S112I|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.S112I|ZSCAN21_ENST00000477297.1_3'UTR	p.S112I	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	499	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		112			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.335G>T	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494545	0.64186	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.77	3.88	0.44766	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.39341	N	0.001383	T	0.39733	0.1089	H	0.96239	3.79	0.32024	N	0.600465	P;D	0.71674	0.643;0.998	B;D	0.69824	0.328;0.966	T	0.65425	-0.6171	10	0.87932	D	0	.	13.2174	0.59867	0.0:0.1606:0.8394:0.0	.	112;112	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	I	112;112;112;112;87	ENSP00000441212:S112I;ENSP00000292450:S112I;ENSP00000390960:S112I;ENSP00000404207:S112I	ENSP00000292450:S112I	S	+	2	0	ZSCAN21	99492900	0.862000	0.29867	0.696000	0.30242	0.983000	0.72400	1.198000	0.32223	1.349000	0.45751	0.655000	0.94253	AGC		0.587	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		6	300	1	0	0.00198382	1	0.00201388	6	300					T	99654964	G	T	99654964	3	4	110	1	0	0	0	0	1	0	0	0	18286	971	34	3	337	3	ZSCAN21	7	99654964	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	23542971	99654964	59483699	43	36408											
STAG3	10734	broad.mit.edu	37	chr7	99799476	99799476	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actaacccacatttctaaatCagatgcttcccaggtgagtg	7	11	2	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:99799476C>T	ENST00000426455.1	+	22	2695	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.S705L|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.S763L|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	763					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATTTCTAAATCAGATGCTTCC	0.448																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2287-2289)tCa>tTa		stromal antigen 3							151	143	145					7																	99799476		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99799476C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2288C>T	7.37:g.99799476C>T	ENSP00000400359:p.Ser763Leu					STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.S763L|STAG3_ENST00000394018.2_Missense_Mutation_p.S705L|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA	p.S763L			Q9UJ98	STAG3_HUMAN			22	2695	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		763					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.2288C>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	8.754	0.921881	0.17982	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.22336	1.96;1.96;1.96	5.19	5.19	0.71726	Armadillo-like helical (1);Armadillo-type fold (1);	0.377609	0.19405	N	0.115079	T	0.26521	0.0648	M	0.63843	1.955	0.19775	N	0.99995	B;P	0.37985	0.162;0.613	B;B	0.38264	0.122;0.269	T	0.20042	-1.0287	10	0.59425	D	0.04	-0.4318	14.2105	0.65762	0.0:1.0:0.0:0.0	.	705;763	B4DZ10;Q9UJ98	.;STAG3_HUMAN	L	763;705;763	ENSP00000400359:S763L;ENSP00000377586:S705L;ENSP00000319318:S763L	ENSP00000319318:S763L	S	+	2	0	STAG3	99637412	0.010000	0.17322	0.535000	0.28026	0.057000	0.15508	1.023000	0.30065	2.429000	0.82318	0.563000	0.77884	TCA		0.448	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		11	519	0	0	0	1	0	11	519					T	99799476	C	T	99799476	3	4	110	1	0	0	0	0	1	0	0	0	15296	838	29	2	2370	2	STAG3	7	99799476	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	144512	99799476	59339187	44	36409											
FOXP2	93986	broad.mit.edu	37	chr7	114269985	114269985	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaacaacaacaacaAcagcagcaacaacagcagca	6	14	0	0	rs368614280		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:114269985A>G	ENST00000393494.2	+	5	801	c.522A>G	c.(520-522)caA>caG	p.Q174Q	FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q|FOXP2_ENST00000393500.3_Silent_p.Q99Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|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																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q199Q(1)	endometrium(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(295-297)caA>caG		forkhead box P2		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	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269985A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.522A>G	7.37:g.114269985A>G						FOXP2_ENST00000350908.4_Silent_p.Q174Q|FOXP2_ENST00000378237.3_Silent_p.Q174Q|FOXP2_ENST00000393491.3_Silent_p.Q82Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q174Q|FOXP2_ENST00000390668.3_Silent_p.Q198Q|FOXP2_ENST00000408937.3_Silent_p.Q199Q|FOXP2_ENST00000403559.4_Silent_p.Q191Q|FOXP2_ENST00000393489.3_Silent_p.Q82Q|FOXP2_ENST00000393494.2_Silent_p.Q174Q|FOXP2_ENST00000393498.2_Silent_p.Q154Q	p.Q99Q			O15409	FOXP2_HUMAN			11	1117	+			174			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.297A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	195	0	0	0	1	0	4	195					G	114269985	A	G	114269985	2	3	110	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269985	Silent	SNP	A	TCGA-RL-AAAS-01A-32D-A397-08	14470509	114269985	44868678	45	36410											
CDK5	1020	broad.mit.edu	37	chr7	150754217	150754217	+	Frame_Shift_Del	DEL	T	T	-													cgatctcatgagtctcccggTttttggccttgaacacagtt							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr7:150754217delT	ENST00000485972.1	-	2	749	c.68delA	c.(67-69)aacfs	p.N23fs	SLC4A2_ENST00000413384.2_5'Flank|SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGTCTCCCGGTTTTTGGCCTT	0.582																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(67-69)acfs		cyclin-dependent kinase 5							240	237	238					7																	150754217		2036	4194	6230	SO:0001589	frameshift_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150754217delT	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.68delA	7.37:g.150754217delT	ENSP00000419782:p.Asn23fs					CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs	p.N23fs	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	2	749	-		Breast(660;0.159)|Ovarian(593;0.182)	23			Protein kinase.		A1XKG3	Frame_Shift_Del	DEL	ENST00000485972.1	37	c.68delA	CCDS47748.1																																																																																				0.582	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			7	940						7	940	---	---	---	---	-	150754217	T	-	150754217	7	5	110	1	0	1	0	1	0	0	0	0	3151	1725	60	0	854	0	CDK5	7	150754217	Frame_Shift_Del	DEL	T	TCGA-RL-AAAS-01A-32D-A397-08	36484232	150754217	8384446	46	36411											
MGC70857	414919	broad.mit.edu	37	chr8	145753118	145753118	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggaaagcggcctcgtagcGcccgctgcggttgggtctca	17	12	1	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr8:145753118G>A	ENST00000524821.1	-	3	474	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	C8orf82_ENST00000313465.5_3'UTR|LRRC24_ENST00000533758.1_5'Flank|LRRC24_ENST00000529415.2_5'Flank			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	87										endometrium(1)|urinary_tract(1)	2						GCCTCGTAGCGCCCGCTGCGG	0.682																																						ENST00000524821.1																			0				endometrium(1)|urinary_tract(1)	2						c.(259-261)Cgc>Tgc		chromosome 8 open reading frame 82							41	51	48					8																	145753118		2180	4290	6470	SO:0001583	missense	414919							g.chr8:145753118G>A		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.259C>T	8.37:g.145753118G>A	ENSP00000436621:p.Arg87Cys					C8orf82_ENST00000313465.5_3'UTR	p.R87C			Q6P1X6	CH082_HUMAN			3	474	-			87					Q6GMR2|Q6P2Q7	Missense_Mutation	SNP	ENST00000524821.1	37	c.259C>T	CCDS34970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.550446|4.550446	0.86127|0.86127	.|.	.|.	ENSG00000213563|ENSG00000213563	ENST00000532827|ENST00000524821	.|.	.|.	.|.	3.97|3.97	3.04|3.04	0.35103|0.35103	.|.	.|0.000000	.|0.53938	.|U	.|0.000050	T|T	0.77315|0.77315	0.4112|0.4112	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.983;0.998	T|T	0.79804|0.79804	-0.1649|-0.1649	5|9	.|0.87932	.|D	.|0	-14.8427|-14.8427	9.5824|9.5824	0.39495|0.39495	0.0:0.2132:0.7868:0.0|0.0:0.2132:0.7868:0.0	.|.	.|79;87	.|Q6P1X6-2;Q6P1X6	.|.;CH082_HUMAN	V|C	131|87	.|.	.|ENSP00000436621:R87C	A|R	-|-	2|1	0|0	C8orf82|C8orf82	145723926|145723926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.913000|3.913000	0.56394|0.56394	2.049000|2.049000	0.60858|0.60858	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.682	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382503.1	NM_001001795		3	46	0	0	0	1	0	3	46					A	145753118	G	A	145753118	3	1	110	1	0	0	0	0	1	0	0	0	9594	1087	38	1	395	1	MGC70857	8	145753118	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		145753118	610904	47	36412											
IPPK	64768	broad.mit.edu	37	chr9	95378166	95378166	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cgctttccttgaaccgagtcGacatcacggcgttgtctttg	10	12	2	1	rs145881935		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:95378166G>A	ENST00000287996.3	-	13	1700	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	IPPK_ENST00000486841.1_5'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.S147L|CENPP_ENST00000375587.3_3'UTR	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	475					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GAACCGAGTCGACATCACGGC	0.453																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(1423-1425)tCg>tTg		inositol 1,3,4,5,6-pentakisphosphate 2-kinase		G	LEU/SER	0,4406		0,0,2203	200	151	167		1424	4.4	0	9	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPPK	NM_022755.5	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/492	95378166	1,13005	2203	4300	6503	SO:0001583	missense	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95378166G>A	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1424C>T	9.37:g.95378166G>A	ENSP00000287996:p.Ser475Leu					IPPK_ENST00000486841.1_5'UTR|IPPK_ENST00000375522.1_Missense_Mutation_p.S147L|CENPP_ENST00000375587.3_3'UTR	p.S475L	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			13	1700	-			475					Q5T9F7|Q9H7V8	Missense_Mutation	SNP	ENST00000287996.3	37	c.1424C>T	CCDS6699.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291506	0.40494	0.0	1.16E-4	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.45668	1.48;0.89	5.34	4.43	0.53597	.	0.622761	0.16056	N	0.231732	T	0.28466	0.0704	N	0.19112	0.55	0.09310	N	0.999994	B;B	0.24426	0.103;0.063	B;B	0.17098	0.017;0.016	T	0.18524	-1.0334	10	0.52906	T	0.07	-0.1873	10.8944	0.47015	0.0:0.1409:0.7128:0.1463	.	475;174	Q9H8X2;B3KVX7	IPPK_HUMAN;.	L	475;147	ENSP00000287996:S475L;ENSP00000364672:S147L	ENSP00000287996:S475L	S	-	2	0	IPPK	94417987	0.472000	0.25870	0.002000	0.10522	0.895000	0.52256	4.171000	0.58236	1.541000	0.49316	0.655000	0.94253	TCG		0.453	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		5	260	0	0	0	1	0	5	260					A	95378166	G	A	95378166	3	1	110	1	0	0	0	0	1	0	0	0	7831	1059	37	1	55	1	IPPK	9	95378166	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		95378166	45835265	48	36413											
ANKS6	203286	broad.mit.edu	37	chr9	101552411	101552411	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcctgacggtggtcagCgggtccaggtagtctacaag	16	9	2	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:101552411C>T	ENST00000353234.4	-	2	884	c.837G>A	c.(835-837)ccG>ccA	p.P279P	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Silent_p.P84P|ANKS6_ENST00000375018.1_Silent_p.P279P|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	279						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)				CGGTGGTCAGCGGGTCCAGGT	0.587																																						ENST00000353234.4																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21						c.(835-837)ccG>ccA		ankyrin repeat and sterile alpha motif domain containing 6							96	104	101					9																	101552411		2171	4283	6454	SO:0001819	synonymous_variant	203286							g.chr9:101552411C>T	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.837G>A	9.37:g.101552411C>T						ANKS6_ENST00000375018.1_Silent_p.P279P|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_Silent_p.P84P|ANKS6_ENST00000471846.1_5'UTR	p.P279P			Q68DC2	ANKS6_HUMAN			2	884	-		Acute lymphoblastic leukemia(62;0.0527)	279					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	ENST00000353234.4	37	c.837G>A	CCDS43856.1																																																																																				0.587	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		6	372	0	0	0	1	0	6	372					T	101552411	C	T	101552411	2	4	110	1	0	0	0	0	0	0	0	1	692	755	27	1		1	ANKS6	9	101552411	Silent	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	6174245	101552411	39661020	49	36414											
C9orf114	51490	broad.mit.edu	37	chr9	131591140	131591140	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttttttttctcctctttctCtggataaaagaacatcctaa	3	9	3	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:131591140C>A	ENST00000361256.5	-	3	123		c.e3-1			NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114								poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						TCCTCTTTCTCTGGATAAAAG	0.522																																						ENST00000361256.5																			0				kidney(2)|large_intestine(4)|ovary(1)	7						c.e3-1		chromosome 9 open reading frame 114							114	123	120					9																	131591140		2203	4300	6503	SO:0001630	splice_region_variant	51490							g.chr9:131591140C>A		CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"centromere protein 32"					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.83-1G>T	9.37:g.131591140C>A								NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN			3	123	-								Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Splice_Site	SNP	ENST00000361256.5	37		CCDS6913.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607651	0.66558	.	.	ENSG00000198917	ENST00000361256;ENST00000372618	.	.	.	5.16	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.846	0.70259	0.0:0.8554:0.1446:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9orf114	130630961	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.132000	0.64758	1.259000	0.44117	0.561000	0.74099	.		0.522	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054500.1	NM_016390	Intron	8	567	1	0	0.0381472	1	0.038434	8	567					A	131591140	C	A	131591140	5	1	110	1	0	0	0	0	0	0	1	0	2456	927	32	3	1088	3	C9orf114	9	131591140	Splice_Site	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	30038729	131591140	9622291	50	36415											
POMT1	10585	broad.mit.edu	37	chr9	134393890	134393890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccatcctctcagaggtccGctttgtgcacgtgaacactt	9	13	1	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:134393890G>A	ENST00000372228.3	+	14	1576	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	POMT1_ENST00000423007.1_Missense_Mutation_p.R444H|POMT1_ENST00000354713.4_Missense_Mutation_p.R414H|POMT1_ENST00000402686.3_Missense_Mutation_p.R444H|POMT1_ENST00000404875.2_Missense_Mutation_p.R327H|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000541219.1_Missense_Mutation_p.R222H|POMT1_ENST00000419118.2_Missense_Mutation_p.R292H|POMT1_ENST00000341012.7_Missense_Mutation_p.R390H|POMT1_ENST00000485278.1_3'UTR	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	466	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TCAGAGGTCCGCTTTGTGCAC	0.493																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(1330-1332)cGc>cAc		protein-O-mannosyltransferase 1							216	209	211					9																	134393890		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134393890G>A	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.1397G>A	9.37:g.134393890G>A	ENSP00000361302:p.Arg466His					POMT1_ENST00000372228.3_Missense_Mutation_p.R466H|POMT1_ENST00000419118.2_Missense_Mutation_p.R292H|POMT1_ENST00000541219.1_Missense_Mutation_p.R222H|POMT1_ENST00000354713.4_Missense_Mutation_p.R414H|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.R444H|POMT1_ENST00000404875.2_Missense_Mutation_p.R327H|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000341012.7_Missense_Mutation_p.R390H	p.R444H	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	14	1773	+		Myeloproliferative disorder(178;0.204)	466			MIR 2.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.1331G>A	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373435	0.82573	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-1.75	5.47	3.57	0.40892	MIR motif (2);MIR (2);	0.172266	0.50627	D	0.000115	D	0.95900	0.8665	H	0.98155	4.16	0.53688	D	0.999972	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;1.0	D;D;D;D;D	0.74674	0.915;0.984;0.984;0.918;0.961	D	0.95436	0.8521	10	0.87932	D	0	-32.9688	8.9194	0.35601	0.0797:0.1473:0.773:0.0	.	169;414;222;466;444	B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;.;POMT1_HUMAN;.	H	444;327;390;466;444;292;222;414;65	ENSP00000404119:R444H;ENSP00000384531:R327H;ENSP00000343034:R390H;ENSP00000361302:R466H;ENSP00000385797:R444H;ENSP00000403032:R292H;ENSP00000440895:R222H;ENSP00000346748:R414H;ENSP00000361294:R65H	ENSP00000343034:R390H	R	+	2	0	POMT1	133383711	1.000000	0.71417	0.950000	0.38849	0.822000	0.46500	7.062000	0.76706	1.256000	0.44068	0.655000	0.94253	CGC		0.493	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		8	1172	0	0	0	1	0	8	1172					A	134393890	G	A	134393890	3	1	110	1	0	0	0	0	1	0	0	0	12287	1087	38	1	1447	1	POMT1	9	134393890	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	2802750	134393890	6819541	51	36416											
RALGDS	5900	broad.mit.edu	37	chr9	135975735	135975735	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttgtccatggccttgCggattacagccggagcctta	12	10	0	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:135975735C>T	ENST00000372050.3	-	17	2510	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	RALGDS_ENST00000393160.3_Missense_Mutation_p.R775H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.R829H|RALGDS_ENST00000542690.1_Missense_Mutation_p.R901H|RALGDS_ENST00000372047.3_Missense_Mutation_p.R818H|RALGDS_ENST00000372062.3_Missense_Mutation_p.R801H	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	830	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CATGGCCTTGCGGATTACAGC	0.592			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"PMBL, Hodgkin Lymphona, "		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2323-2325)cGc>cAc		ral guanine nucleotide dissociation stimulator							179	170	173					9																	135975735		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135975735C>T	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2489G>A	9.37:g.135975735C>T	ENSP00000361120:p.Arg830His					RALGDS_ENST00000372062.3_Missense_Mutation_p.R801H|RALGDS_ENST00000372047.3_Missense_Mutation_p.R818H|RALGDS_ENST00000393157.3_Missense_Mutation_p.R829H|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.R901H|RALGDS_ENST00000372050.3_Missense_Mutation_p.R830H	p.R775H	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	17	2677	-			830					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2324G>A	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520476	0.64747	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	5.15	3.26	0.37387	Ras-association (3);	0.000000	0.64402	D	0.000002	T	0.40119	0.1104	M	0.65975	2.015	0.52099	D	0.999947	B;D;D;D;D;D	0.89917	0.192;1.0;1.0;1.0;1.0;0.999	B;D;D;D;D;D	0.87578	0.009;0.992;0.975;0.998;0.998;0.962	T	0.12016	-1.0564	10	0.72032	D	0.01	.	8.0155	0.30379	0.1584:0.7559:0.0:0.0857	.	901;801;775;829;818;830	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	H	830;818;775;829;901;801	ENSP00000361120:R830H;ENSP00000361117:R818H;ENSP00000376867:R775H;ENSP00000376864:R829H;ENSP00000437518:R901H;ENSP00000361132:R801H	ENSP00000361117:R818H	R	-	2	0	RALGDS	134965556	1.000000	0.71417	0.997000	0.53966	0.332000	0.28634	4.540000	0.60664	0.524000	0.28502	0.313000	0.20887	CGC		0.592	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		6	720	0	0	0	1	0	6	720					T	135975735	C	T	135975735	3	4	110	1	0	0	0	0	1	0	0	0	13066	768	27	1	263	1	RALGDS	9	135975735	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	1581845	135975735	5237696	52	36417											
WDR5	11091	broad.mit.edu	37	chr9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-													tttattgcagatgacgacaaCccccccgtgtcttttgtgaa							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr9:137019598delC	ENST00000358625.3	+	10	813	c.642delC	c.(640-642)aacfs	p.N214fs	WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	214					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)				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)		ATGACGACAACCCCCCCGTGT	0.627																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(640-642)aafs		WD repeat domain 5							250	223	232					9																	137019598		2203	4300	6503	SO:0001589	frameshift_variant	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137019598delC	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.642delC	9.37:g.137019598delC	ENSP00000351446:p.Asn214fs					WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs	p.N214fs	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		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)	10	813	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	214					Q91VA5|Q9NWX7|Q9UGP9	Frame_Shift_Del	DEL	ENST00000358625.3	37	c.642delC	CCDS6981.1																																																																																				0.627	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		8	1734						8	1734	---	---	---	---	-	137019598	C	-	137019598	7	5	110	1	0	1	0	1	0	0	0	0	17357	506	18	0	676	0	WDR5	9	137019598	Frame_Shift_Del	DEL	C	TCGA-RL-AAAS-01A-32D-A397-08	1043863	137019598	4193833	53	36418											
GPR158	57512	broad.mit.edu	37	chr10	25464666	25464666	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccggccgctacgagttggCgggcctgccggggaagtggc	18	13	0	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:25464666C>T	ENST00000376351.3	+	1	676	c.317C>T	c.(316-318)gCg>gTg	p.A106V	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	106					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						TACGAGTTGGCGGGCCTGCCG	0.667																																						ENST00000376351.3																			0				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						c.(316-318)gCg>gTg		G protein-coupled receptor 158							31	34	33					10																	25464666		2203	4296	6499	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464666C>T	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.317C>T	10.37:g.25464666C>T	ENSP00000365529:p.Ala106Val					GPR158-AS1_ENST00000449643.1_RNA	p.A106V	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	676	+			106					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.317C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476432	0.44044	.	.	ENSG00000151025	ENST00000376351	T	0.76578	-1.03	4.54	4.54	0.55810	.	0.318381	0.26474	N	0.024164	T	0.68952	0.3057	L	0.47716	1.5	0.38573	D	0.949992	P	0.49090	0.919	B	0.39876	0.312	T	0.70572	-0.4835	10	0.26408	T	0.33	.	12.8962	0.58101	0.0:0.7029:0.2971:0.0	.	106	Q5T848	GP158_HUMAN	V	106	ENSP00000365529:A106V	ENSP00000365529:A106V	A	+	2	0	GPR158	25504672	0.695000	0.27747	0.992000	0.48379	0.963000	0.63663	1.068000	0.30629	2.359000	0.80004	0.467000	0.42956	GCG		0.667	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		5	265	0	0	0	1	0	5	265					T	25464666	C	T	25464666	3	4	110	1	0	0	0	0	1	0	0	0	6692	768	27	1	319	1	GPR158	10	25464666	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08		25464666	110070081	54	36419											
ERCC6	2074	broad.mit.edu	37	chr10	50678363	50678363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcgagttccttcaaacttggCgtctctgcaatgcttagagt	9	10	2	1	rs377041857		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:50678363C>T	ENST00000355832.5	-	18	3721	c.3643G>A	c.(3643-3645)Gcc>Acc	p.A1215T	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.A585T|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1215					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						TCAAACTTGGCGTCTCTGCAA	0.443								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3643-3645)Gcc>Acc	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6		C	THR/ALA	0,4406		0,0,2203	341	324	330		3643	5.7	1	10		330	2,8598	2.2+/-6.3	0,2,4298	no	missense	ERCC6	NM_000124.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1215/1494	50678363	2,13004	2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678363C>T	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.3643G>A	10.37:g.50678363C>T	ENSP00000348089:p.Ala1215Thr					RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.A585T	p.A1215T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			18	3721	-			1215					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3643G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882412	0.91740	0.0	2.33E-4	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.83992	-1.79;-1.54	5.65	5.65	0.86999	.	.	.	.	.	D	0.90229	0.6945	M	0.69185	2.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.945	D	0.88115	0.2828	9	0.37606	T	0.19	-15.6594	20.0887	0.97806	0.0:1.0:0.0:0.0	.	1215;592	Q03468;Q59FF6	ERCC6_HUMAN;.	T	1215;592;585	ENSP00000348089:A1215T;ENSP00000445134:A585T	ENSP00000348089:A1215T	A	-	1	0	ERCC6	50348369	0.999000	0.42202	0.975000	0.42487	0.884000	0.51177	3.830000	0.55768	2.825000	0.97269	0.655000	0.94253	GCC		0.443	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		6	1035	0	0	0	1	0	6	1035					T	50678363	C	T	50678363	3	4	110	1	0	0	0	0	1	0	0	0	5235	768	27	1	854	1	ERCC6	10	50678363	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	25213697	50678363	84856384	55	36420											
AGAP7	653268	broad.mit.edu	37	chr10	51465346	51465346	+	Frame_Shift_Del	DEL	G	G	-													tttttattggcatgaggagaGgggggcgggttgagcttggg					rs377066109	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr10:51465346delG	ENST00000374095.5	-	7	1235	c.1110delC	c.(1108-1110)cccfs	p.P370fs		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		370	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CATGAGGAGAGGGGGGCGGGT	0.527																																						ENST00000374095.5																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1108-1110)ccfs		ArfGAP with GTPase domain, ankyrin repeat and PH domain 7							45	58	54					10																	51465346		2174	4261	6435	SO:0001589	frameshift_variant	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465346delG																												ENST00000374095.5:c.1110delC	10.37:g.51465346delG	ENSP00000363208:p.Pro370fs						p.P370fs	NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN			7	1235	-			370			PH.		A6NGH4	Frame_Shift_Del	DEL	ENST00000374095.5	37	c.1110delC	CCDS41524.1																																																																																				0.527	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1			7	572						7	572	---	---	---	---	-	51465346	G	-	51465346	7	5	110	1	0	1	0	1	0	0	0	0	373	987	35	0	885	0	AGAP7	10	51465346	Frame_Shift_Del	DEL	G	TCGA-RL-AAAS-01A-32D-A397-08	786983	51465346	84069401	56	36421											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagagccacagcccccacGgccggagccacagcccccac	10	22	0	1	rs138454470	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGCCCCCACGGCCGGAGCCA	0.687													a|||	16	0.00319489	0.0113	0.0014	5008	,	,		7650	0.0		0.0	False		,,,				2504	0.0					ENST00000412090.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(103-105)Cgt>Tgt		keratin associated protein 5-2							28	36	33					11																	1619378		2153	4213	6366	SO:0001583	missense	440021					keratin filament		g.chr11:1619378G>A	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"Keratin associated proteins"	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.103C>T	11.37:g.1619378G>A	ENSP00000400041:p.Arg35Cys					KRTAP5-AS1_ENST00000424148.1_RNA	p.R35C	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	146	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	35					A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.103C>T	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	-	13.89	2.373233	0.42105	.	.	ENSG00000205867	ENST00000412090	T	0.00655	5.95	1.5	1.5	0.22942	.	.	.	.	.	T	0.00384	0.0012	N	0.01352	-0.895	0.30628	N	0.757796	.	.	.	.	.	.	T	0.38628	-0.9652	7	0.44086	T	0.13	.	4.9464	0.13991	0.8126:0.0:0.1874:0.0	.	35	Q701N4	KRA52_HUMAN	C	35	ENSP00000400041:R35C	ENSP00000400041:R35C	R	-	1	0	KRTAP5-2	1575954	0.000000	0.05858	0.659000	0.29680	0.640000	0.38277	-0.254000	0.08781	0.123000	0.18342	0.000000	0.15137	CGT		0.687	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		9	283	0	0	0	1	0	9	283					A	1619378	G	A	1619378	3	1	110	1	0	0	0	0	1	0	0	0	8592	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		1619378	133387138	57	36422											
ZNF195	7748	broad.mit.edu	37	chr11	3381273	3381273	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtaatgttcccctccgGcataaattctatttttagta	5	9	2	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:3381273G>A	ENST00000399602.4	-	6	1091	c.965C>T	c.(964-966)gCc>gTc	p.A322V	ZNF195_ENST00000354599.6_Missense_Mutation_p.A250V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.A303V|ZNF195_ENST00000005082.9_Missense_Mutation_p.A299V|ZNF195_ENST00000429541.2_Missense_Mutation_p.A254V|ZNF195_ENST00000343338.7_Missense_Mutation_p.A254V|ZNF195_ENST00000438262.2_3'UTR	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	322					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)		TTCCCCTCCGGCATAAATTCT	0.398																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(748-750)gCc>gTc		zinc finger protein 195							101	96	97					11																	3381273		1880	4124	6004	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381273G>A		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.965C>T	11.37:g.3381273G>A	ENSP00000382511:p.Ala322Val					ZNF195_ENST00000526601.1_Missense_Mutation_p.A303V|ZNF195_ENST00000005082.9_Missense_Mutation_p.A299V|ZNF195_ENST00000343338.7_Missense_Mutation_p.A254V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.A254V|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000399602.4_Missense_Mutation_p.A322V	p.A250V	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	853	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	322					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.749C>T	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	g	9.020	0.984612	0.18889	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;3.83	0.683	0.683	0.17998	.	.	.	.	.	T	0.46483	0.1395	L	0.42529	1.33	0.09310	N	1	B;B;B;B;B;B	0.18741	0.01;0.015;0.03;0.026;0.018;0.026	B;B;B;B;B;B	0.18871	0.023;0.002;0.015;0.005;0.011;0.005	T	0.46978	-0.9152	9	0.87932	D	0	.	7.1643	0.25681	1.0E-4:0.0:0.9999:0.0	.	303;181;299;254;322;250	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	V	250;322;254;254;299;303;277	ENSP00000346613:A250V;ENSP00000382511:A322V;ENSP00000344483:A254V;ENSP00000387998:A254V;ENSP00000005082:A299V;ENSP00000435828:A303V;ENSP00000431937:A277V	ENSP00000005082:A299V	A	-	2	0	ZNF195	3337849	0.617000	0.27043	0.000000	0.03702	0.014000	0.08584	1.494000	0.35616	0.638000	0.30545	0.305000	0.20034	GCC		0.398	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			5	509	0	0	0	1	0	5	509					A	3381273	G	A	3381273	3	1	110	1	0	0	0	0	1	0	0	0	17811	1203	42	2	928	2	ZNF195	11	3381273	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	1761895	3381273	131625243	58	36423											
OR4D10	390197	broad.mit.edu	37	chr11	59245504	59245504	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	acttgaactactaatgatttCcaacaatggactgctcacca	5	11	1	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:59245504C>G	ENST00000530162.1	+	1	659	c.602C>G	c.(601-603)tCc>tGc	p.S201C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	201						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						CTAATGATTTCCAACAATGGA	0.468																																						ENST00000530162.1																			0				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						c.(601-603)tCc>tGc		olfactory receptor, family 4, subfamily D, member 10							77	79	78					11																	59245504		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245504C>G	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.602C>G	11.37:g.59245504C>G	ENSP00000436424:p.Ser201Cys						p.S201C	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	659	+			201					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.602C>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	7.225	0.598092	0.13939	.	.	ENSG00000254466	ENST00000530162	T	0.00145	8.67	4.71	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	M	0.69463	2.115	0.28278	N	0.924125	B	0.25390	0.125	B	0.34418	0.182	T	0.12319	-1.0552	9	0.87932	D	0	.	6.2736	0.20969	0.1823:0.7211:0.0:0.0965	.	201	Q8NGI6	OR4DA_HUMAN	C	201	ENSP00000436424:S201C	ENSP00000436424:S201C	S	+	2	0	OR4D10	59002080	0.000000	0.05858	0.996000	0.52242	0.138000	0.21146	-0.155000	0.10115	1.102000	0.41551	-0.136000	0.14681	TCC		0.468	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		4	333	0	0	0	1	0	4	333					G	59245504	C	G	59245504	3	3	110	1	0	0	0	0	1	0	0	0	11096	855	30	5	604	5	OR4D10	11	59245504	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	55864231	59245504	75761012	59	36424											
RDX	5962	broad.mit.edu	37	chr11	110103968	110103968	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caaattttaaatacctgaagTtgcttcttaacacgctcatt	4	9	2	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:110103968T>C	ENST00000343115.4	-	13	1900	c.1581A>G	c.(1579-1581)caA>caG	p.Q527Q	RDX_ENST00000530301.1_Intron|RDX_ENST00000528498.1_Silent_p.Q527Q|RDX_ENST00000544551.1_Silent_p.Q391Q|RDX_ENST00000528900.1_Silent_p.Q180Q|RDX_ENST00000405097.1_Silent_p.Q527Q	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	527					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)		ATACCTGAAGTTGCTTCTTAA	0.338																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1579-1581)caA>caG		radixin							205	194	198					11																	110103968		2201	4298	6499	SO:0001819	synonymous_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110103968T>C	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.1581A>G	11.37:g.110103968T>C						RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Silent_p.Q391Q|RDX_ENST00000528498.1_Silent_p.Q527Q|RDX_ENST00000405097.1_Silent_p.Q527Q|RDX_ENST00000528900.1_Silent_p.Q180Q	p.Q527Q	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		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)	13	1900	-		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)	527					A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	c.1581A>G	CCDS8343.1																																																																																				0.338	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		9	488	0	0	0	1	0	9	488					C	110103968	T	C	110103968	2	2	110	1	0	0	0	0	0	0	0	1	13248	1722	60	4		4	RDX	11	110103968	Silent	SNP	T	TCGA-RL-AAAS-01A-32D-A397-08	50858464	110103968	24902548	60	36425											
IFT46	56912	broad.mit.edu	37	chr11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-													ccagaggggctccatgctctTcatcatcatcatcagaatca							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000264020.2_In_Frame_Del_p.D104del|IFT46_ENST00000530872.1_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(310-315)gaa>ga		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427645_118427647delTCA	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del					IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del|IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del	p.DE104del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	689_691	-			53					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.312_314delTGA	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		8	969						8	969	---	---	---	---	-	118427647	TCA	-	118427645	7	5	110	1	0	1	0	1	0	0	0	0	7590	1783	62	0	789	0	IFT46	11	118427645	In_Frame_Del	DEL	TCA	TCGA-RL-AAAS-01A-32D-A397-08	8323677	118427645	16578871	61	36426											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G													cccccacagggagtggcggtINSggccttggggggtgatggca							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2329-2331)ggcfs		roundabout, axon guidance receptor, homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124745490_124745491insG	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2332dupG	11.37:g.124745492_124745492dupG	ENSP00000380903:p.Ala778fs					ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.G755fs	p.G777fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	15	2522_2523	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	777			Fibronectin type-III 3.			Frame_Shift_Ins	INS	ENST00000397801.1	37	c.2330_2331insG	CCDS44755.1																																																																																				0.604	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		7	156						7	156	---	---	---	---	G	124745491	-	G	124745490	7	5	110	1	0	1	1	0	0	0	0	0	13565	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-RL-AAAS-01A-32D-A397-08	6317845	124745490	10261026	62	36427											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-													agcagccaccgccacctcaaCagcagcagcagcagcagcag					rs372118289		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(898-900)del		forkhead box J2																																				SO:0001651	inframe_deletion	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200558_8200560delCAG	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.898_900delCAG	12.37:g.8200567_8200569delCAG	ENSP00000162391:p.Gln306del					FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2043_2045	+			306			Poly-Gln.		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	In_Frame_Del	DEL	ENST00000162391.3	37	c.898_900delCAG	CCDS8587.1																																																																																				0.64	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		10	155						10	155	---	---	---	---	-	8200560	CAG	-	8200558	7	5	110	1	0	1	0	1	0	0	0	0	6039	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-RL-AAAS-01A-32D-A397-08		8200558	125651337	63	36428											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-													ccattatttcttccataccaTtttttttcttgccgaaaaat							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TTCCATACCATTTTTTTTCTT	0.363																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(826-828)ttfs		solute carrier organic anion transporter family, member 1B3							138	135	136					12																	21028267		2203	4300	6503	SO:0001589	frameshift_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028267delT		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.826delT	12.37:g.21028267delT	ENSP00000370956:p.Phe278fs					SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	p.F278fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1045	+	Esophageal squamous(101;0.149)		278					E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	c.826delT	CCDS8684.1																																																																																				0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		7	322						7	322	---	---	---	---	-	21028267	T	-	21028267	7	5	110	1	0	1	0	1	0	0	0	0	14774	1493	52	0	852	0	SLCO1B3	12	21028267	Frame_Shift_Del	DEL	T	TCGA-RL-AAAS-01A-32D-A397-08	12827709	21028267	112823628	64	36429											
C12orf35	55196	broad.mit.edu	37	chr12	32134718	32134720	+	In_Frame_Del	DEL	CCT	CCT	-													ccacgcaaactgacaaaagaCctcctcctcctccttacaac					rs550353898|rs79406084	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:32134718_32134720delCCT	ENST00000312561.4	+	4	1243_1245	c.829_831delCCT	c.(829-831)cctdel	p.P281del	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	281																	TGACAAAAGACCTCCTCCTCCTC	0.414														2	0.000399361	0.0	0.0	5008	,	,		23035	0.0		0.002	False		,,,				2504	0.0					ENST00000312561.4																			0											c.(829-831)del		KIAA1551				128,4134		60,8,2063						2	0.4			94	862,7388		406,50,3669	no	coding	C12orf35	NM_018169.3		466,58,5732	A1A1,A1R,RR		10.4485,3.0033,7.9124				990,11522				SO:0001651	inframe_deletion	55196							g.chr12:32134718_32134720delCCT	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.829_831delCCT	12.37:g.32134727_32134729delCCT	ENSP00000310338:p.Pro281del					KIAA1551_ENST00000535596.1_Intron	p.P281del	NM_018169.3	NP_060639.3					4	1243_1245	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	In_Frame_Del	DEL	ENST00000312561.4	37	c.829_831delCCT	CCDS8725.2																																																																																				0.414	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		9	516						9	516	---	---	---	---	-	32134720	CCT	-	32134718	7	5	110	1	0	1	0	1	0	0	0	0	1687	507	18	0	831	0	C12orf35	12	32134718	In_Frame_Del	DEL	CCT	TCGA-RL-AAAS-01A-32D-A397-08	11106451	32134718	101717177	65	36430											
LIMA1	51474	broad.mit.edu	37	chr12	50571413	50571413	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagcttcttcagatctagatCgacatcctcaggaacttcgg	8	11	4	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:50571413C>A	ENST00000341247.4	-	11	1863	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	LIMA1_ENST00000552909.1_Missense_Mutation_p.D411Y|LIMA1_ENST00000394943.3_Missense_Mutation_p.D573Y|LIMA1_ENST00000547825.1_Missense_Mutation_p.D270Y|LIMA1_ENST00000552491.1_Missense_Mutation_p.D269Y|LIMA1_ENST00000552823.1_Missense_Mutation_p.D412Y|LIMA1_ENST00000552783.1_Missense_Mutation_p.D413Y	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	572					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						AGATCTAGATCGACATCCTCA	0.483																																						ENST00000547825.1																			0				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						c.(808-810)Gat>Tat		LIM domain and actin binding 1							121	121	121					12																	50571413		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571413C>A	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.1714G>T	12.37:g.50571413C>A	ENSP00000340184:p.Asp572Tyr					LIMA1_ENST00000552491.1_Missense_Mutation_p.D269Y|LIMA1_ENST00000552783.1_Missense_Mutation_p.D413Y|LIMA1_ENST00000552823.1_Missense_Mutation_p.D412Y|LIMA1_ENST00000552909.1_Missense_Mutation_p.D411Y|LIMA1_ENST00000341247.4_Missense_Mutation_p.D572Y|LIMA1_ENST00000394943.3_Missense_Mutation_p.D573Y	p.D270Y	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN			5	2077	-			572					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.808G>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455002	0.63290	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.86297	-1.33;-1.32;-1.68;-2.1;-1.36;-1.69;-1.69	5.38	4.48	0.54585	.	0.205376	0.49916	D	0.000127	D	0.91938	0.7447	M	0.62723	1.935	0.50171	D	0.999852	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	D	0.92688	0.6164	10	0.87932	D	0	.	14.1156	0.65151	0.0:0.9275:0.0:0.0725	.	582;572;411	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	Y	269;270;412;573;572;413;411;491	ENSP00000448463:D269Y;ENSP00000448706:D270Y;ENSP00000450266:D412Y;ENSP00000378400:D573Y;ENSP00000340184:D572Y;ENSP00000448779:D413Y;ENSP00000450087:D411Y	ENSP00000340184:D572Y	D	-	1	0	LIMA1	48857680	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	3.827000	0.55745	1.396000	0.46663	0.655000	0.94253	GAT		0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		10	523	1	0	6.40141e-05	1	6.75424e-05	10	523					A	50571413	C	A	50571413	3	1	110	1	0	0	0	0	1	0	0	0	8828	884	31	3	569	3	LIMA1	12	50571413	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	18436695	50571413	83280482	66	36431											
NPFF	8620	broad.mit.edu	37	chr12	53900854	53900854	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccaggtctctccattgCctggagcaggtagtgcaaca	12	13	1	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:53900854C>T	ENST00000267017.3	-	2	338	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NPFF_ENST00000609999.1_Missense_Mutation_p.A62T|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.G436D	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	59					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						CTCTCCATTGCCTGGAGCAGG	0.607																																						ENST00000591834.1																			0											c.(1306-1308)gGc>gAc									65	69	68					12																	53900854		2203	4300	6503	SO:0001583	missense	0							g.chr12:53900854C>T	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.175G>A	12.37:g.53900854C>T	ENSP00000267017:p.Ala59Thr					NPFF_ENST00000267017.3_Missense_Mutation_p.A59T	p.G436D							12	1356	-								Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.1307G>A	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758042	0.69648	.	.	ENSG00000139574	ENST00000267017	T	0.48201	0.82	4.41	3.51	0.40186	.	0.093609	0.41294	D	0.000903	T	0.54351	0.1853	M	0.62723	1.935	0.29851	N	0.828467	D	0.53312	0.959	P	0.54026	0.74	T	0.55921	-0.8064	10	0.62326	D	0.03	-9.2596	9.9901	0.41865	0.0:0.8975:0.0:0.1025	.	59	O15130	NPFF_HUMAN	T	59	ENSP00000267017:A59T	ENSP00000267017:A59T	A	-	1	0	NPFF	52187121	0.983000	0.35010	1.000000	0.80357	0.711000	0.40976	1.167000	0.31847	2.442000	0.82660	0.491000	0.48974	GCA		0.607	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		4	220	0	0	0	1	0	4	220					T	53900854	C	T	53900854	3	4	110	1	0	0	0	0	1	0	0	0	10618	739	26	2	174	2	NPFF	12	53900854	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	3329441	53900854	79951041	67	36432											
CNPY2	10330	broad.mit.edu	37	chr12	56704996	56704996	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgattcccatagctcaccGcaaacttgagggtgccgcta	9	14	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr12:56704996G>A	ENST00000273308.4	-	4	947	c.407C>T	c.(406-408)gCg>gTg	p.A136V	RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Splice_Site_p.A136V|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	136	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						ATAGCTCACCGCAAACTTGAG	0.483																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.e4+1		canopy FGF signaling regulator 2							204	195	198					12																	56704996		2203	4300	6503	SO:0001630	splice_region_variant	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56704996G>A	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.408+1C>T	12.37:g.56704996G>A						RP11-977G19.10_ENST00000549318.1_Splice_Site_p.A136_splice|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	p.A136_splice	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	947	-			136			Saposin B-type.		B2R7B9|Q9UHE9	Splice_Site	SNP	ENST00000273308.4	37	c.408_splice	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127274	0.94473	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.29	5.29	0.74685	Saposin B (1);	0.057857	0.64402	D	0.000002	T	0.47967	0.1474	M	0.74258	2.255	0.80722	D	1	D	0.57257	0.979	P	0.49301	0.606	T	0.41698	-0.9494	10	0.17369	T	0.5	-13.685	18.0978	0.89496	0.0:0.0:1.0:0.0	.	136	Q9Y2B0	CNPY2_HUMAN	V	136;136;136;84	ENSP00000446743:A136V;ENSP00000273308:A136V;ENSP00000448809:A136V;ENSP00000446784:A84V	ENSP00000273308:A136V	A	-	2	0	RP11-977G19.10;CNPY2	54991263	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.415000	0.73328	2.648000	0.89879	0.561000	0.74099	GCG		0.483	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255	Missense_Mutation	6	842	0	0	0	1	0	6	842					A	56704996	G	A	56704996	5	1	110	1	0	0	0	0	0	0	1	0	3637	1101	38	1	153	1	CNPY2	12	56704996	Splice_Site	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	2804142	56704996	77146899	68	36433											
C15orf54	400360	broad.mit.edu	37	chr15	39544396	39544396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccccagagggctgagccGcaaagaatttgcagagcctt	12	11	0	5			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000560484.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						ENST00000318578.3																			1	Substitution - coding silent(1)	p.P20P(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(58-60)ccG>ccA		chromosome 15 open reading frame 54							200	201	200					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544396G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A						RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20					B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																				0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		6	938	0	0	0	1	0	6	938					A	39544396	G	A	39544396	2	1	110	1	0	0	0	0	0	0	0	1	1807	1074	38	1		1	C15orf54	15	39544396	Silent	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		39544396	62986996	69	36434											
BUB1B	701	broad.mit.edu	37	chr15	40512872	40512872	+	Frame_Shift_Del	DEL	T	T	-													tgcagcagaaatgaatggggTttttgacactacattccaaa							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr15:40512872delT	ENST00000287598.6	+	23	3260	c.3065delT	c.(3064-3066)gttfs	p.V1022fs	PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Frame_Shift_Del_p.V1036fs|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	1022	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)		ATGAATGGGGTTTTTGACACT	0.448			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"Mis, N, F, S"	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(3064-3066)gtfs		BUB1 mitotic checkpoint serine/threonine kinase B							153	149	150					15																	40512872		2203	4300	6503	SO:0001589	frameshift_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40512872delT	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.3065delT	15.37:g.40512872delT	ENSP00000287598:p.Val1022fs					RP11-133K1.2_ENST00000558658.1_Intron|BUB1B_ENST00000412359.3_Frame_Shift_Del_p.V1036fs|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron	p.V1022fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	23	3260	+		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)	1022			Protein kinase.		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Frame_Shift_Del	DEL	ENST00000287598.6	37	c.3065delT	CCDS10053.1																																																																																				0.448	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			7	846						7	846	---	---	---	---	-	40512872	T	-	40512872	7	5	110	1	0	1	0	1	0	0	0	0	1575	1725	60	0	3155	0	BUB1B	15	40512872	Frame_Shift_Del	DEL	T	TCGA-RL-AAAS-01A-32D-A397-08	968476	40512872	62018520	70	36435											
FAM86A	196483	broad.mit.edu	37	chr16	5140323	5140323	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atggccaggcctgtgaggccAgcaccactgccaagctctag	12	14	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr16:5140323A>G	ENST00000427587.4	-	6	572	c.504T>C	c.(502-504)gcT>gcC	p.A168A	FAM86A_ENST00000587133.1_Silent_p.A107A|FAM86A_ENST00000458008.4_Silent_p.A134A	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	168						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CTGTGAGGCCAGCACCACTGC	0.657																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(502-504)gcT>gcC		family with sequence similarity 86, member A							35	41	39					16																	5140323		1502	2704	4206	SO:0001819	synonymous_variant	196483							g.chr16:5140323A>G	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.504T>C	16.37:g.5140323A>G						FAM86A_ENST00000587133.1_Silent_p.A107A|FAM86A_ENST00000458008.4_Silent_p.A134A	p.A168A	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			6	572	-			168					D3DUF0|Q96S85	Silent	SNP	ENST00000427587.4	37	c.504T>C	CCDS10529.1																																																																																				0.657	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		6	222	0	0	0	1	0	6	222					G	5140323	A	G	5140323	2	3	110	1	0	0	0	0	0	0	0	1	5668	175	7	4		4	FAM86A	16	5140323	Silent	SNP	A	TCGA-RL-AAAS-01A-32D-A397-08		5140323	85214430	71	36436											
MVP	9961	broad.mit.edu	37	chr16	29855904	29855904	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggtgatgcctgcaaagccatCgcatcccgggtgcggggggc	17	12	0	1	rs372666702		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr16:29855904C>A	ENST00000357402.5	+	11	1863	c.1725C>A	c.(1723-1725)atC>atA	p.I575I	MVP_ENST00000395353.1_Silent_p.I575I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	575					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						GCAAAGCCATCGCATCCCGGG	0.552																																						ENST00000357402.5																			0				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						c.(1723-1725)atC>atA		major vault protein							86	81	83					16																	29855904		2197	4300	6497	SO:0001819	synonymous_variant	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29855904C>A	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.1725C>A	16.37:g.29855904C>A						MVP_ENST00000395353.1_Silent_p.I575I	p.I575I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			11	1863	+			575					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	37	c.1725C>A	CCDS10656.1																																																																																				0.552	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		5	553	1	0	0.000602214	1	0.000616006	5	553					A	29855904	C	A	29855904	2	1	110	1	0	0	0	0	0	0	0	1	10037	874	31	3		3	MVP	16	29855904	Silent	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	24715581	29855904	60498849	72	36437											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	347						8	347	---	---	---	---	-	57731887	GGA	-	57731885	7	5	110	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-RL-AAAS-01A-32D-A397-08	27875981	57731885	32622868	73	36438											
C17orf102	400591	broad.mit.edu	37	chr17	32905983	32905983	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgccccggacccatcccGcacgaagctgagccccagag	11	19	0	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:32905983G>A	ENST00000357754.1	-	1	405	c.317C>T	c.(316-318)gCg>gTg	p.A106V	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	106										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GACCCATCCCGCACGAAGCTG	0.632																																						ENST00000357754.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(316-318)gCg>gTg		chromosome 17 open reading frame 102							63	71	68					17																	32905983		1881	4101	5982	SO:0001583	missense	400591							g.chr17:32905983G>A		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.317C>T	17.37:g.32905983G>A	ENSP00000350392:p.Ala106Val						p.A106V	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN			1	405	-			106					A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.317C>T	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144258	0.37825	.	.	ENSG00000197322	ENST00000357754	T	0.38560	1.13	3.63	1.47	0.22746	.	1.338970	0.05487	N	0.555854	T	0.28366	0.0701	N	0.19112	0.55	0.09310	N	1	D	0.56968	0.978	B	0.43103	0.408	T	0.18304	-1.0341	10	0.87932	D	0	.	2.757	0.05295	0.1714:0.0:0.549:0.2796	.	106	A2RUQ5	CQ102_HUMAN	V	106	ENSP00000350392:A106V	ENSP00000350392:A106V	A	-	2	0	C17orf102	29930096	0.001000	0.12720	0.067000	0.19924	0.115000	0.19883	0.450000	0.21762	0.247000	0.21414	0.655000	0.94253	GCG		0.632	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		6	543	0	0	0	1	0	6	543					A	32905983	G	A	32905983	3	1	110	1	0	0	0	0	1	0	0	0	1854	1087	38	1	194	1	C17orf102	17	32905983	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		32905983	48289227	74	36439											
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	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.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		6	415	0	0	0	1	0	6	415					C	33520392	G	C	33520392	3	2	110	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	614409	33520392	47674818	75	36440											
HOXB3	3213	broad.mit.edu	37	chr17	46629396	46629396	+	Frame_Shift_Del	DEL	G	G	-													agagaactggtacctgtgccGggggagttgtttttcagctt					rs547096338		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:46629396delG	ENST00000470495.1	-	1	1888	c.441delC	c.(439-441)cccfs	p.P147fs	HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P15fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P15fs|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P147fs|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA			P14651	HXB3_HUMAN	homeobox B3	147					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						TACCTGTGCCGGGGGAGTTGT	0.572																																						ENST00000470495.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						c.(439-441)ccfs		homeobox B3							244	272	263					17																	46629396		2203	4300	6503	SO:0001589	frameshift_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46629396delG		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.441delC	17.37:g.46629396delG	ENSP00000417207:p.Pro147fs					HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P15fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P147fs|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P15fs|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P74fs|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P147fs	p.P147fs			P14651	HXB3_HUMAN			1	1888	-			147					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Frame_Shift_Del	DEL	ENST00000470495.1	37	c.441delC	CCDS11528.1																																																																																				0.572	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			7	1935						7	1935	---	---	---	---	-	46629396	G	-	46629396	7	5	110	1	0	1	0	1	0	0	0	0	7332	1103	39	0	862	0	HOXB3	17	46629396	Frame_Shift_Del	DEL	G	TCGA-RL-AAAS-01A-32D-A397-08	13109004	46629396	34565814	76	36441											
ABCC3	8714	broad.mit.edu	37	chr17	48753771	48753771	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgacaccacaccatcaggccGcatcctgaactgcttctcca	6	17	2	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr17:48753771G>A	ENST00000285238.8	+	23	3280	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1067	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCATCAGGCCGCATCCTGAAC	0.557																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(3199-3201)cGc>cAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						361	261	295					17																	48753771		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753771G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3200G>A	17.37:g.48753771G>A	ENSP00000285238:p.Arg1067His						p.R1067H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		23	3280	+			1067			ABC transmembrane type-1 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.3200G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484168	0.84854	.	.	ENSG00000108846	ENST00000285238	D	0.95103	-3.61	5.15	4.18	0.49190	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.059738	0.64402	D	0.000002	D	0.98128	0.9382	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99129	1.0852	10	0.87932	D	0	-11.9819	14.1106	0.65120	0.0733:0.0:0.9267:0.0	.	1067	O15438	MRP3_HUMAN	H	1067	ENSP00000285238:R1067H	ENSP00000285238:R1067H	R	+	2	0	ABCC3	46108770	1.000000	0.71417	0.861000	0.33841	0.756000	0.42949	7.885000	0.87282	1.292000	0.44672	0.609000	0.83330	CGC		0.557	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		6	768	0	0	0	1	0	6	768					A	48753771	G	A	48753771	3	1	110	1	0	0	0	0	1	0	0	0	54	1087	38	1	3374	1	ABCC3	17	48753771	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	2124375	48753771	32441439	77	36442											
WDR7	23335	broad.mit.edu	37	chr18	54591315	54591315	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggcttctcgaactttgtgCcgatgccgagaaacaacttg	12	10	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr18:54591315C>T	ENST00000254442.3	+	22	3900	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1230					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)		GAACTTTGTGCCGATGCCGAG	0.438																																						ENST00000254442.3																			0				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						c.(3688-3690)gCc>gTc		WD repeat domain 7							206	187	193					18																	54591315		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54591315C>T	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.3689C>T	18.37:g.54591315C>T	ENSP00000254442:p.Ala1230Val					WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V	p.A1230V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	22	3900	+			1230					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.3689C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362697	0.82353	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.67171	-0.25;1.47	5.45	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	L	0.42245	1.32	0.58432	D	0.999991	P;P	0.44627	0.839;0.751	P;B	0.46172	0.506;0.309	T	0.68108	-0.5496	10	0.52906	T	0.07	.	15.7022	0.77549	0.0:0.8624:0.1376:0.0	.	1197;1230	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	1230;1197;555;1197	ENSP00000254442:A1230V;ENSP00000350187:A1197V	ENSP00000254442:A1230V	A	+	2	0	WDR7	52742313	1.000000	0.71417	0.986000	0.45419	0.926000	0.56050	7.489000	0.81451	1.256000	0.44068	0.591000	0.81541	GCC		0.438	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			6	537	0	0	0	1	0	6	537					T	54591315	C	T	54591315	3	4	110	1	0	0	0	0	1	0	0	0	17374	739	26	2	3771	2	WDR7	18	54591315	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08		54591315	23485933	78	36443											
SBSN	374897	broad.mit.edu	37	chr19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-													ccatccagggccttgcccacCtctctctctgcattgctcag							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gagfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E46fs*27(1)		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)			CCTTGCCCACCTCTCTCTCTGC	0.579																																						ENST00000452271.2																			1	Deletion - Frameshift(1)	p.E46fs*27(1)	large_intestine(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(136-138)gfs		suprabasin																																				SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36019046_36019047delCT	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.137_138delAG	19.37:g.36019054_36019055delCT	ENSP00000430242:p.Glu46fs					SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	165_166	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		46					A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.137_138delAG	CCDS54253.1																																																																																				0.579	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		7	652						7	652	---	---	---	---	-	36019047	CT	-	36019046	7	5	110	1	0	1	0	1	0	0	0	0	13914	680	24	0	1650	0	SBSN	19	36019046	Frame_Shift_Del	DEL	CT	TCGA-RL-AAAS-01A-32D-A397-08		36019046	23109937	79	36444											
ZNF570	148268	broad.mit.edu	37	chr19	37976034	37976034	+	Frame_Shift_Del	DEL	A	A	-													cctatgaatgtaaggaatgcAaaaaaaccttcaggcagcat							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:37976034delA	ENST00000330173.1	+	5	2039	c.1510delA	c.(1510-1512)aaafs	p.K505fs	CTD-2086O20.3_ENST00000591976.1_lincRNA|ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs|ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)			TAAGGAATGCAAAAAAACCTT	0.448																																						ENST00000330173.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(1510-1512)aafs		zinc finger protein 570							116	117	117					19																	37976034		2203	4300	6503	SO:0001589	frameshift_variant	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37976034delA	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.1510delA	19.37:g.37976034delA	ENSP00000331540:p.Lys505fs					ZNF570_ENST00000586475.1_Frame_Shift_Del_p.K561fs|ZNF570_ENST00000388801.3_Frame_Shift_Del_p.K302fs	p.K505fs	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2039	+			505					A1L472|B4DMP1	Frame_Shift_Del	DEL	ENST00000330173.1	37	c.1510delA	CCDS12504.1																																																																																				0.448	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		7	300						7	300	---	---	---	---	-	37976034	A	-	37976034	7	5	110	1	0	1	0	1	0	0	0	0	18055	131	5	0	1524	0	ZNF570	19	37976034	Frame_Shift_Del	DEL	A	TCGA-RL-AAAS-01A-32D-A397-08	1956988	37976034	21152949	80	36445											
PSG9	5678	broad.mit.edu	37	chr19	43766225	43766225	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggatcacagattaagcGcacagcctccatggcctccc	8	16	2	1	rs555763400		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:43766225G>A	ENST00000270077.3	-	3	592	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	PSG9_ENST00000593948.1_Missense_Mutation_p.R166C|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000244293.7_Missense_Mutation_p.R166C	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	166	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CAGATTAAGCGCACAGCCTCC	0.532																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(496-498)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 9							216	211	212					19																	43766225		2203	4300	6503	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43766225G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.496C>T	19.37:g.43766225G>A	ENSP00000270077:p.Arg166Cys					PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Missense_Mutation_p.R166C|PSG9_ENST00000270077.3_Missense_Mutation_p.R166C|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron	p.R166C			Q00887	PSG9_HUMAN			3	562	-		Prostate(69;0.00682)	166			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.496C>T	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	16.94	3.259881	0.59321	.	.	ENSG00000183668	ENST00000270077;ENST00000435220;ENST00000244293	T;T	0.12672	2.66;2.66	2.12	-4.25	0.03766	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13030	0.0316	L	0.29908	0.895	0.09310	N	1	D;P;D	0.61697	0.99;0.87;0.96	P;P;B	0.56648	0.803;0.65;0.404	T	0.06445	-1.0826	9	0.59425	D	0.04	.	1.1203	0.01723	0.1691:0.4139:0.1705:0.2465	.	166;166;166	Q15227;Q6LEU7;Q00887	.;.;PSG9_HUMAN	C	166;127;166	ENSP00000270077:R166C;ENSP00000244293:R166C	ENSP00000244293:R166C	R	-	1	0	PSG9	48458065	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.671000	0.01954	-1.318000	0.02289	-1.440000	0.01072	CGC		0.532	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		6	904	0	0	0	1	0	6	904					A	43766225	G	A	43766225	3	1	110	1	0	0	0	0	1	0	0	0	12709	1087	38	1	800	1	PSG9	19	43766225	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	5790191	43766225	15362758	81	36446											
ZNF845	91664	broad.mit.edu	37	chr19	53855452	53855452	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttcagtttcaaatcAaaccttgaaagacataggat	7	7	3	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:53855452A>G	ENST00000595091.1	+	5	1743	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000458035.1_Silent_p.S508S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					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						GTTTCAAATCAAACCTTGAAA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1522-1524)tcA>tcG		zinc finger protein 845							22	21	21					19																	53855452		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855452A>G	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.1524A>G	19.37:g.53855452A>G						ZNF845_ENST00000595091.1_Silent_p.S508S	p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1641	+			508						Silent	SNP	ENST00000595091.1	37	c.1524A>G	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		5	182	0	0	0	1	0	5	182					G	53855452	A	G	53855452	2	3	110	1	0	0	0	0	0	0	0	1	18244	117	5	4		4	ZNF845	19	53855452	Silent	SNP	A	TCGA-RL-AAAS-01A-32D-A397-08	10089227	53855452	5273531	82	36447											
TMC4	147798	broad.mit.edu	37	chr19	54668257	54668257	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggttgagcagcacccGcaccaaccaaaccctggctt	9	16	0	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:54668257G>A	ENST00000376591.4	-	7	1173	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	TMC4_ENST00000301187.4_Missense_Mutation_p.R342W|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	348					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)					AGCAGCACCCGCACCAACCAA	0.682																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(1042-1044)Cgg>Tgg		transmembrane channel-like 4							90	97	94					19																	54668257		2203	4300	6503	SO:0001583	missense	147798					integral to membrane		g.chr19:54668257G>A	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.1042C>T	19.37:g.54668257G>A	ENSP00000365776:p.Arg348Trp					TMC4_ENST00000301187.4_Missense_Mutation_p.R342W	p.R348W	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			7	1173	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		348					Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1042C>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262864	0.80358	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.63744	-0.06;-0.06	4.96	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.976;0.997	D	0.83762	0.0215	10	0.87932	D	0	-33.3948	12.8818	0.58022	0.0:0.0:0.6235:0.3765	.	348;342	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	W	342;348	ENSP00000301187:R342W;ENSP00000365776:R348W	ENSP00000301187:R342W	R	-	1	2	TMC4	59360069	0.997000	0.39634	0.987000	0.45799	0.820000	0.46376	2.476000	0.45171	1.163000	0.42636	0.655000	0.94253	CGG		0.682	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	663	0	0	0	1	0	7	663					A	54668257	G	A	54668257	3	1	110	1	0	0	0	0	1	0	0	0	16039	1086	38	1	1132	1	TMC4	19	54668257	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	812805	54668257	4460726	83	36448											
LILRA2	11027	broad.mit.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggccctgtgagcccctccCacgggggccagtacagatgc	14	15	0	2	rs532565720	byFrequency	TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	289	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													c|||	6	0.00119808	0.0	0.0014	5008	,	,		16291	0.0		0.0	False		,,,				2504	0.0051					ENST00000251377.3																			1	Substitution - Missense(1)	p.H289Y(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(865-867)Cac>Tac		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							49	51	50					19																	55086932		2203	4299	6502	SO:0001583	missense	0							g.chr19:55086932C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.865C>T	19.37:g.55086932C>T	ENSP00000251377:p.His289Tyr					LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y	p.H289Y						GBM - Glioblastoma multiforme(193;0.0963)	6	998	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.865C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	8.190	0.795735	0.16327	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	2.8	2.8	0.32819	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.843870	0.10052	N	0.722156	T	0.02767	0.0083	M	0.81179	2.53	0.25235	N	0.989797	B;B;B;B	0.17038	0.018;0.02;0.009;0.001	B;B;B;B	0.38458	0.274;0.077;0.077;0.015	T	0.36648	-0.9739	10	0.28530	T	0.3	.	9.2391	0.37484	0.0:1.0:0.0:0.0	.	289;277;289;289	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	289;289;289;289;277	ENSP00000388131:H289Y;ENSP00000251377:H289Y;ENSP00000375618:H289Y;ENSP00000251376:H289Y;ENSP00000375617:H277Y	ENSP00000251376:H289Y	H	+	1	0	LILRA2	59778744	0.000000	0.05858	0.006000	0.13384	0.119000	0.20118	0.417000	0.21214	1.570000	0.49709	0.400000	0.26472	CAC		0.647	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			5	312	0	0	0	1	0	5	312					T	55086932	C	T	55086932	3	4	110	1	0	0	0	0	1	0	0	0	8817	594	21	2	883	2	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	418675	55086932	4042051	84	36449											
CHMP2A	27243	broad.mit.edu	37	chr19	59063736	59063736	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacagcctggatgttggcccGcatcaatacaaacttgcgca	9	13	1	0	rs146786448		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr19:59063736G>A	ENST00000600118.1	-	2	663	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W|CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	80	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|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)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		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)		ATGTTGGCCCGCATCAATACA	0.537																																						ENST00000600118.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7						c.(238-240)Cgg>Tgg		charged multivesicular body protein 2A		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	167	144	152		238,238	4.2	1	19	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHMP2A	NM_014453.2,NM_198426.1	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	80/223,80/223	59063736	1,13005	2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063736G>A	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.238C>T	19.37:g.59063736G>A	ENSP00000469240:p.Arg80Trp					CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W|CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W	p.R80W			O43633	CHM2A_HUMAN		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)	2	663	-		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)	80			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.238C>T	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163553	0.78226	0.0	1.16E-4	ENSG00000130724	ENST00000312547	T	0.73047	-0.71	5.21	4.17	0.49024	.	0.059857	0.64402	D	0.000006	D	0.84669	0.5523	M	0.86343	2.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	D	0.87404	0.2371	10	0.87932	D	0	.	13.3112	0.60380	0.0:0.0:0.8406:0.1594	.	80	O43633	CHM2A_HUMAN	W	80	ENSP00000310440:R80W	ENSP00000310440:R80W	R	-	1	2	CHMP2A	63755548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.248000	0.32827	1.327000	0.45338	0.655000	0.94253	CGG		0.537	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453		6	533	0	0	0	1	0	6	533					A	59063736	G	A	59063736	3	1	110	1	0	0	0	0	1	0	0	0	3363	1086	38	1	446	1	CHMP2A	19	59063736	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	3976804	59063736	65247	85	36450											
MCM8	84515	broad.mit.edu	37	chr20	5974198	5974198	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgggaacctagattttgagCgatcccagcatggttctgga	12	8	1	2			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:5974198C>T	ENST00000378896.3	+	18	2664	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	MCM8_ENST00000265187.4_Nonsense_Mutation_p.R747*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.R803*|MCM8_ENST00000378883.1_Nonsense_Mutation_p.R716*	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	763					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						AGATTTTGAGCGATCCCAGCA	0.363																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2287-2289)Cga>Tga		minichromosome maintenance complex component 8							77	82	80					20																	5974198		2203	4300	6503	SO:0001587	stop_gained	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5974198C>T	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.2287C>T	20.37:g.5974198C>T	ENSP00000368174:p.Arg763*					MCM8_ENST00000265187.4_Nonsense_Mutation_p.R747*|MCM8_ENST00000378883.1_Nonsense_Mutation_p.R716*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.R803*	p.R763*	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			18	2664	+			763					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Nonsense_Mutation	SNP	ENST00000378896.3	37	c.2287C>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	43	10.272580	0.99372	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	.	.	.	5.82	5.82	0.92795	.	0.112694	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-11.9756	20.1092	0.97906	0.0:1.0:0.0:0.0	.	.	.	.	X	763;716;803;747	.	ENSP00000265187:R747X	R	+	1	2	MCM8	5922198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.353000	0.79414	2.745000	0.94114	0.655000	0.94253	CGA		0.363	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		5	455	0	0	0	1	0	5	455					T	5974198	C	T	5974198	4	4	110	1	0	0	0	0	0	1	0	0	9434	760	27	1	2353	1	MCM8	20	5974198	Nonsense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08		5974198	57051322	86	36451											
DIDO1	11083	broad.mit.edu	37	chr20	61510917	61510917	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcccactcccggggccGgtcccagtcccgctctcggc	12	20	1	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:61510917G>A	ENST00000266070.4	-	16	6716	c.6391C>T	c.(6391-6393)Cgg>Tgg	p.R2131W	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2131W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2131	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)					tcccggggccggtcccagtcc	0.731																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6391-6393)Cgg>Tgg		death inducer-obliterator 1							24	27	26					20																	61510917		2192	4280	6472	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61510917G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6391C>T	20.37:g.61510917G>A	ENSP00000266070:p.Arg2131Trp					DIDO1_ENST00000395343.1_Missense_Mutation_p.R2131W	p.R2131W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6716	-	Breast(26;5.68e-08)		2131			Arg-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.6391C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728073	0.48833	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.40225	1.04;1.04	5.19	-10.4	0.00318	.	0.000000	0.32868	U	0.005559	T	0.26593	0.0650	M	0.62723	1.935	0.20563	N	0.999881	B	0.18968	0.032	B	0.10450	0.005	T	0.05733	-1.0867	10	0.41790	T	0.15	-15.7927	6.3151	0.21186	0.154:0.0711:0.0958:0.6792	.	2131	Q9BTC0	DIDO1_HUMAN	W	2131	ENSP00000266070:R2131W;ENSP00000378752:R2131W	ENSP00000266070:R2131W	R	-	1	2	DIDO1	60981362	0.708000	0.27876	0.000000	0.03702	0.050000	0.14768	0.509000	0.22707	-1.632000	0.01541	-0.181000	0.13052	CGG		0.731	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	270	0	0	0	1	0	4	270					A	61510917	G	A	61510917	3	1	110	1	0	0	0	0	1	0	0	0	4538	1115	39	1	335	1	DIDO1	20	61510917	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	55536719	61510917	1514603	87	36452											
DIDO1	11083	broad.mit.edu	37	chr20	61511322	61511322	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttttttcagaaaagggtgCggacccccgtagtccaccaa	9	11	1	1			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr20:61511322C>T	ENST00000266070.4	-	16	6311	c.5986G>A	c.(5986-5988)Gca>Aca	p.A1996T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1996	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)					GAAAAGGGTGCGGACCCCCGT	0.597																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5986-5988)Gca>Aca		death inducer-obliterator 1							85	105	98					20																	61511322		2202	4299	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511322C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5986G>A	20.37:g.61511322C>T	ENSP00000266070:p.Ala1996Thr					DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6311	-	Breast(26;5.68e-08)		1996			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5986G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	6.840	0.524236	0.13066	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	4.91	2.95	0.34219	.	0.339513	0.20856	N	0.084434	T	0.06462	0.0166	L	0.45581	1.43	0.09310	N	0.999999	B	0.21147	0.052	B	0.13407	0.009	T	0.43048	-0.9415	10	0.09843	T	0.71	-4.5369	6.2343	0.20754	0.1314:0.6469:0.0:0.2218	.	1996	Q9BTC0	DIDO1_HUMAN	T	1996	ENSP00000266070:A1996T;ENSP00000378752:A1996T	ENSP00000266070:A1996T	A	-	1	0	DIDO1	60981767	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.406000	0.21032	0.573000	0.29400	0.561000	0.74099	GCA		0.597	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	971	0	0	0	1	0	7	971					T	61511322	C	T	61511322	3	4	110	1	0	0	0	0	1	0	0	0	4538	768	27	1	740	1	DIDO1	20	61511322	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	405	61511322	1514198	88	36453											
PHF5A	84844	broad.mit.edu	37	chr22	41856430	41856430	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaagccgtattttttgCgttcatagaagaggtctgtc	10	7	3	3			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chr22:41856430C>T	ENST00000216252.3	-	4	376	c.305G>A	c.(304-306)cGc>cAc	p.R102H	PHF5A_ENST00000491254.1_5'Flank	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	102					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|U12-type spliceosomal complex (GO:0005689)|U2 snRNP (GO:0005686)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GTATTTTTTGCGTTCATAGAA	0.488																																					Ovarian(15;130 571 1826 2981 46141)	ENST00000216252.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(304-306)cGc>cAc		PHD finger protein 5A							94	88	90					22																	41856430		2203	4300	6503	SO:0001583	missense	84844				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41856430C>T	BC007321	CCDS14016.1	22q13.2	2014-02-14			ENSG00000100410	ENSG00000100410		"Zinc fingers, PHD-type"	18000	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 7"					12054543, 12234937, 18076038	Standard	NM_032758		Approved	MGC1346, SF3b14b, INI, bK223H9.2, Rds3, SAP14b, SF3B7	uc003bab.3	Q7RTV0	OTTHUMG00000150966	ENST00000216252.3:c.305G>A	22.37:g.41856430C>T	ENSP00000216252:p.Arg102His						p.R102H	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN			4	376	-			102					Q9UH06	Missense_Mutation	SNP	ENST00000216252.3	37	c.305G>A	CCDS14016.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215874	0.58452	.	.	ENSG00000100410	ENST00000216252	.	.	.	5.86	3.78	0.43462	.	0.089362	0.85682	N	0.000000	T	0.61464	0.2349	M	0.70903	2.155	0.80722	D	1	B	0.13594	0.008	B	0.19946	0.027	T	0.60622	-0.7227	9	0.51188	T	0.08	-17.9475	12.777	0.57455	0.0:0.8674:0.0:0.1326	.	102	Q7RTV0	PHF5A_HUMAN	H	102	.	ENSP00000216252:R102H	R	-	2	0	PHF5A	40186376	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	7.681000	0.84073	0.936000	0.37367	-0.157000	0.13467	CGC		0.488	PHF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320686.1	NM_032758		7	594	0	0	0	1	0	7	594					T	41856430	C	T	41856430	3	4	110	1	0	0	0	0	1	0	0	0	11879	768	27	1	31	1	PHF5A	22	41856430	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08		41856430	9448136	89	36454											
IL3RA	3563	broad.mit.edu	37	chrX	1499945	1499945	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagagactctttccccGcatccctcacatgaaagacc	7	15	2	3			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:1499945G>A	ENST00000331035.4	+	11	1359	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	IL3RA_ENST00000381469.2_Missense_Mutation_p.R259H	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	337					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		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)	CTCTTTCCCCGCATCCCTCAC	0.542													g|||	4	0.000798722	0.0	0.0029	5008	,	,		15168	0.0		0.002	False		,,,				2504	0.0					ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(1009-1011)cGc>cAc		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						418	405	410					X																	1499945		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1499945G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1010G>A	X.37:g.1499945G>A	ENSP00000327890:p.Arg337His					IL3RA_ENST00000381469.2_Missense_Mutation_p.R259H	p.R337H	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			11	1359	+		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)	337					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.1010G>A	CCDS14113.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	0	0.0	2	0.002638522427440633	.	11.35	1.611725	0.28712	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;T	0.37915	1.43;1.17	1.93	0.996	0.19844	.	0.221665	0.27586	U	0.018718	T	0.32941	0.0846	L	0.29908	0.895	0.09310	N	1	D;D	0.63880	0.993;0.993	P;B	0.54312	0.748;0.347	T	0.13019	-1.0525	10	0.72032	D	0.01	.	5.8988	0.18955	0.0:0.663:0.337:0.0	.	258;337	P26951-2;P26951	.;IL3RA_HUMAN	H	337;259	ENSP00000327890:R337H;ENSP00000370878:R259H	ENSP00000327890:R337H	R	+	2	0	IL3RA	1459945	0.000000	0.05858	0.007000	0.13788	0.010000	0.07245	-0.053000	0.11846	0.087000	0.17167	-0.802000	0.03209	CGC		0.542	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			8	1347	0	0	0	1	0	8	1347					A	1499945	G	A	1499945	3	1	110	1	0	0	0	0	1	0	0	0	7725	1087	38	1	1048	1	IL3RA	23	1499945	Missense_Mutation	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08		1499945	153770615	90	36455											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				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						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	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.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		9	144						9	144	---	---	---	---	-	21627680	GAG	-	21627678	7	5	110	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-RL-AAAS-01A-32D-A397-08	20127733	21627678	133642882	91	36456											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	184	0	0	0	1	0	4	184					A	51076024	G	A	51076024	2	1	110	1	0	0	0	0	0	0	0	1	10768	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-RL-AAAS-01A-32D-A397-08	29448346	51076024	104194536	92	36457											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	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.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		11	168						11	168	---	---	---	---	-	70360682	GCA	-	70360680	7	5	110	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-RL-AAAS-01A-32D-A397-08	19284656	70360680	84909880	93	36458											
NAP1L3	4675	broad.mit.edu	37	chrX	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-													gccgctgctgctgccactagTgctgctgctgctgctgctgt							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_In_Frame_Del_p.S43del|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				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						ctgccactagtgctgctgctgct	0.586																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(148-153)act>a		nucleosome assembly protein 1-like 3				192,3509		5,127,55,1456,470						-0.4	0			14	387,6034		9,190,179,2144,1556	no	coding	NAP1L3	NM_004538.5		14,317,234,3600,2026	A1A1,A1R,A1,RR,R		6.0271,5.1878,5.7202				579,9543				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928153_92928155delTGC		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.149_151delGCA	X.37:g.92928162_92928164delTGC	ENSP00000362171:p.Ser50del					NAP1L3_ENST00000475430.1_5'UTR	p.ST50del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	412_414	-			50			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.149_151delGCA	CCDS14465.1																																																																																				0.586	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		7	209						7	209	---	---	---	---	-	92928155	TGC	-	92928153	7	5	110	1	0	1	0	1	0	0	0	0	10199	1696	59	0	1373	0	NAP1L3	23	92928153	In_Frame_Del	DEL	TGC	TCGA-RL-AAAS-01A-32D-A397-08	22567473	92928153	62342407	94	36459											
RNF128	79589	broad.mit.edu	37	chrX	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-													aaccaggagaataggtccagTtttttttggctccttgtaat							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)agfs		ring finger protein 128, E3 ubiquitin protein ligase							70	74	72					X																	105937256		2203	4297	6500	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937256delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs						p.S8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000324342.3	37	c.24delT	CCDS14520.1																																																																																				0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		8	296						8	296	---	---	---	---	-	105937256	T	-	105937256	7	5	110	1	0	1	0	1	0	0	0	0	13486	1722	60	0	26	0	RNF128	23	105937256	Frame_Shift_Del	DEL	T	TCGA-RL-AAAS-01A-32D-A397-08	13009103	105937256	49333304	95	36460											
DOCK11	139818	broad.mit.edu	37	chrX	117707943	117707943	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cttcacccgaatcttacattCatggaattgccgaatctcag	6	12	4	0			TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:117707943C>T	ENST00000276202.7	+	12	1414	c.1351C>T	c.(1351-1353)Cat>Tat	p.H451Y	DOCK11_ENST00000276204.6_Missense_Mutation_p.H451Y	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	451					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						ATCTTACATTCATGGAATTGC	0.453																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(1351-1353)Cat>Tat		dedicator of cytokinesis 11							87	78	81					X																	117707943		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117707943C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1351C>T	X.37:g.117707943C>T	ENSP00000276202:p.His451Tyr					DOCK11_ENST00000276202.7_Missense_Mutation_p.H451Y	p.H451Y			Q5JSL3	DOC11_HUMAN			12	1425	+			451					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.1351C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171980	0.38315	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.03004	4.08;4.08	6.02	6.02	0.97574	.	0.049919	0.85682	D	0.000000	T	0.06142	0.0159	L	0.47716	1.5	0.48236	D	0.999616	B;B	0.32507	0.373;0.373	B;B	0.31101	0.124;0.124	T	0.22556	-1.0213	10	0.62326	D	0.03	-17.7756	17.8874	0.88861	0.0:1.0:0.0:0.0	.	451;451	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Y	451	ENSP00000276204:H451Y;ENSP00000276202:H451Y	ENSP00000276202:H451Y	H	+	1	0	DOCK11	117591971	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	4.596000	0.61055	2.549000	0.85964	0.600000	0.82982	CAT		0.453	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		5	402	0	0	0	1	0	5	402					T	117707943	C	T	117707943	3	4	110	1	0	0	0	0	1	0	0	0	4702	826	29	2	1397	2	DOCK11	23	117707943	Missense_Mutation	SNP	C	TCGA-RL-AAAS-01A-32D-A397-08	11770687	117707943	37562617	96	36461											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		12	291						12	291	---	---	---	---	-	119694119	GAG	-	119694117	7	5	110	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-RL-AAAS-01A-32D-A397-08	1986174	119694117	35576443	97	36462											
MAGEC1	9947	broad.mit.edu	37	chrX	140994844	140994846	+	In_Frame_Del	DEL	CCT	CCT	-													ctcactactttcctcagagcCctcctcagggggaggactcc					rs377463560		TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:140994844_140994846delCCT	ENST00000285879.4	+	4	1940_1942	c.1654_1656delCCT	c.(1654-1656)cctdel	p.P553del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	553										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	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1654-1656)del		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994844_140994846delCCT	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.1654_1656delCCT	X.37:g.140994847_140994849delCCT	ENSP00000285879:p.Pro553del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.P553del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1940_1942	+	Acute lymphoblastic leukemia(192;6.56e-05)		553					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1654_1656delCCT	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	1512						7	1512	---	---	---	---	-	140994846	CCT	-	140994844	7	5	110	1	0	1	0	1	0	0	0	0	9221	623	22	0	1660	0	MAGEC1	23	140994844	In_Frame_Del	DEL	CCT	TCGA-RL-AAAS-01A-32D-A397-08	21300727	140994844	14275716	98	36463											
AFF2	2334	broad.mit.edu	37	chrX	147733548	147733548	+	Frame_Shift_Del	DEL	A	A	-													aacaagaccgtagtgcacttAaaaaaagggaatgggagcgg							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:147733548delA	ENST00000370460.2	+	2	555	c.76delA	c.(76-78)aaafs	p.K27fs	AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	27					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)					TAGTGCACTTAAAAAAAGGGA	0.378																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(76-78)aafs		AF4/FMR2 family, member 2							178	171	173					X																	147733548		2203	4300	6503	SO:0001589	frameshift_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733548delA	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.76delA	X.37:g.147733548delA	ENSP00000359489:p.Lys27fs					AFF2_ENST00000370458.1_Frame_Shift_Del_p.K27fs|AFF2_ENST00000342251.3_Frame_Shift_Del_p.K27fs|AFF2_ENST00000370457.5_Frame_Shift_Del_p.K27fs	p.K27fs	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			2	555	+	Acute lymphoblastic leukemia(192;6.56e-05)		27					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Frame_Shift_Del	DEL	ENST00000370460.2	37	c.76delA	CCDS14684.1																																																																																				0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		7	870						7	870	---	---	---	---	-	147733548	A	-	147733548	7	5	110	1	0	1	0	1	0	0	0	0	357	363	13	0	82	0	AFF2	23	147733548	Frame_Shift_Del	DEL	A	TCGA-RL-AAAS-01A-32D-A397-08	6738704	147733548	7537012	99	36464											
HMGB3	3149	broad.mit.edu	37	chrX	150156358	150156360	+	In_Frame_Del	DEL	GAG	GAG	-													aagaagaggaggaggaagaaGaggaggaggaggaggaggag							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:150156358_150156360delGAG	ENST00000325307.7	+	5	670_672	c.574_576delGAG	c.(574-576)gagdel	p.E198del	HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)del		high mobility group box 3																																				SO:0001651	inframe_deletion	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156358_150156360delGAG	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.574_576delGAG	X.37:g.150156367_150156369delGAG	ENSP00000359393:p.Glu198del					HMGB3_ENST00000448905.2_In_Frame_Del_p.E198del	p.E198del	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	670_672	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	In_Frame_Del	DEL	ENST00000325307.7	37	c.574_576delGAG	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		7	431						7	431	---	---	---	---	-	150156360	GAG	-	150156358	7	5	110	1	0	1	0	1	0	0	0	0	7257	943	33	0	588	0	HMGB3	23	150156358	In_Frame_Del	DEL	GAG	TCGA-RL-AAAS-01A-32D-A397-08	2422810	150156358	5114202	100	36465											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-													aagccgtgtacgttgaacccGctgctgctgctgctgctgct							TCGA-RL-AAAS-01A-32D-A397-08	TCGA-RL-AAAS-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60b82551-19a9-435d-b420-7c448db08d5d	eebbcbda-eed1-495d-bc20-ec66ba13f07d	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		13	555						13	555	---	---	---	---	-	150817144	GCT	-	150817142	7	5	110	1	0	1	0	1	0	0	0	0	11513	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-RL-AAAS-01A-32D-A397-08	660784	150817142	4453418	101	36466											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	12	12	3	0	rs199755248		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66	66	66					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		6	200	0	0	0	1	0	6	200					C	16378296	A	C	16378296	2	2	111	1	0	0	0	0	0	0	0	1	3479	175	7	4		4	CLCNKB	1	16378296	Silent	SNP	A	TCGA-S4-A8RO-01A-12D-A377-08		16378296	232872325	1	36467											
MAGOH	4116	broad.mit.edu	37	chr1	53692717	53692717	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgtccacaccaatattcagtCtagattggtttaatcttgaa	6	8	3	2	rs200084732	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(439-441)taG>taA		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001819	synonymous_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692717C>T	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"mago-nashi (Drosophila) homolog, proliferation-associated"			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.441G>A	1.37:g.53692717C>T						MAGOH_ENST00000371466.4_Silent_p.*110*	p.*147*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	602	-			0					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Silent	SNP	ENST00000371470.3	37	c.441G>A	CCDS577.1																																																																																				0.368	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		4	133	0	0	0	1	0	4	133					T	53692717	C	T	53692717	2	4	111	1	0	0	0	0	0	0	0	1	9235	924	32	2		2	MAGOH	1	53692717	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	37314421	53692717	195557904	2	36468											
FNDC7	163479	broad.mit.edu	37	chr1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-													ttgaagcttactttctgtccAaaaaaaatatattcaggtaa							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs|RP11-293A10.3_ENST00000437400.2_RNA	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		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)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65	66	66					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		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.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		9	235						9	235	---	---	---	---	-	109276138	A	-	109276138	7	5	111	1	0	1	0	1	0	0	0	0	5998	117	5	0	2162	0	FNDC7	1	109276138	Frame_Shift_Del	DEL	A	TCGA-S4-A8RO-01A-12D-A377-08	55583421	109276138	139974483	3	36469											
IGSF3	3321	broad.mit.edu	37	chr1	117208935	117208935	+	Frame_Shift_Del	DEL	A	A	-													ccagacagctcagcaccgggAaaaagcacttcatgtcggca							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:117208935delA	ENST00000369486.3	-	2	779	c.14delT	c.(13-15)ttcfs	p.F5fs	IGSF3_ENST00000369483.1_Frame_Shift_Del_p.F5fs|IGSF3_ENST00000318837.6_Frame_Shift_Del_p.F5fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	5					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)		CAGCACCGGGAAAAAGCACTT	0.498																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(13-15)tcfs		immunoglobulin superfamily, member 3							138	127	131					1																	117208935		2203	4300	6503	SO:0001589	frameshift_variant	3321					integral to membrane		g.chr1:117208935delA	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.14delT	1.37:g.117208935delA	ENSP00000358498:p.Phe5fs					IGSF3_ENST00000369483.1_Frame_Shift_Del_p.F5fs|IGSF3_ENST00000318837.6_Frame_Shift_Del_p.F5fs	p.F5fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	2	779	-	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)	5					A6NJZ6|A6NMC7	Frame_Shift_Del	DEL	ENST00000369486.3	37	c.14delT	CCDS30813.1																																																																																				0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		8	2927						8	2927	---	---	---	---	-	117208935	A	-	117208935	7	5	111	1	0	1	0	1	0	0	0	0	7631	246	9	0	3674	0	IGSF3	1	117208935	Frame_Shift_Del	DEL	A	TCGA-S4-A8RO-01A-12D-A377-08	7932797	117208935	132041686	4	36470											
SPAG17	200162	broad.mit.edu	37	chr1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-													ggagcattaccacctacaggTttttttgcctttttagatga							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						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)		CACCTACAGGTTTTTTTGCCT	0.254																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(280-282)aafs		sperm associated antigen 17							71	73	72					1																	118693199		2199	4287	6486	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693199delT		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.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs						p.K94fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	3	347	-	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)	94					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.282delA	CCDS899.1																																																																																				0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		9	2778						9	2778	---	---	---	---	-	118693199	T	-	118693199	7	5	111	1	0	1	0	1	0	0	0	0	15031	1722	60	0	6573	0	SPAG17	1	118693199	Frame_Shift_Del	DEL	T	TCGA-S4-A8RO-01A-12D-A377-08	1484264	118693199	130557422	5	36471											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474036	145474036	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgctccccaaaccaccacgCcatcccccaaaaccactcaa	2	23	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145474036C>T	ENST00000323397.4	+	4	2001	c.708C>T	c.(706-708)cgC>cgT	p.R236R	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	236	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCACCACGCCATCCCCCAA	0.622																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(706-708)cgC>cgT		ankyrin repeat domain 34A							71	83	79					1																	145474036		2203	4300	6503	SO:0001819	synonymous_variant	284615							g.chr1:145474036C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.708C>T	1.37:g.145474036C>T							p.R236R	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN			4	2001	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		236			Pro-rich.		B3KSU3	Silent	SNP	ENST00000323397.4	37	c.708C>T	CCDS30829.1																																																																																				0.622	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			162	653	0	0	0	1	0	162	653					T	145474036	C	T	145474036	2	4	111	1	0	0	0	0	0	0	0	1	662	726	26	2		2	ANKRD34A	1	145474036	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	26780837	145474036	103776585	6	36472											
ANKRD35	148741	broad.mit.edu	37	chr1	145558485	145558485	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcctgctgtgtgaccaCgaagccttcctggacgtgtt	12	12	0	1	rs377359716		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145558485C>T	ENST00000355594.4	+	6	513	c.426C>T	c.(424-426)caC>caT	p.H142H	ANKRD35_ENST00000544626.1_Missense_Mutation_p.T123M	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	142										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)					TGTGTGACCACGAAGCCTTCC	0.542																																					Melanoma(9;127 754 22988 51047)	ENST00000544626.1																			0				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						c.(367-369)aCg>aTg		ankyrin repeat domain 35							148	131	136					1																	145558485		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145558485C>T	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.426C>T	1.37:g.145558485C>T						ANKRD35_ENST00000355594.4_Silent_p.H142H	p.T123M			Q8N283	ANR35_HUMAN			5	441	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		0					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.368C>T	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326612	0.41197	.	.	ENSG00000198483	ENST00000544626	T	0.15603	2.41	5.09	-7.84	0.01196	.	.	.	.	.	T	0.11281	0.0275	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	T	0.14559	-1.0468	6	0.72032	D	0.01	-16.9738	16.3209	0.82951	0.0:0.2377:0.0:0.7623	.	.	.	.	M	123	ENSP00000442671:T123M	ENSP00000442671:T123M	T	+	2	0	ANKRD35	144269842	0.000000	0.05858	0.525000	0.27900	0.977000	0.68977	-4.830000	0.00180	-1.784000	0.01272	-0.768000	0.03414	ACG		0.542	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		91	287	0	0	0	1	0	91	287					T	145558485	C	T	145558485	2	4	111	1	0	0	0	0	0	0	0	1	664	535	19	1		1	ANKRD35	1	145558485	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	84449	145558485	103692136	7	36473											
ANKRD35	148741	broad.mit.edu	37	chr1	145562533	145562534	+	Frame_Shift_Ins	INS	-	-	G													caccctggtggatcggcaccINSgggaggcccagcaggtgctg							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145562533_145562534insG	ENST00000355594.4	+	10	2308_2309	c.2221_2222insG	c.(2221-2223)cggfs	p.R741fs		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	741								p.R741R(1)		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)					GGATCGGCACCGGGAGGCCCAG	0.653																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			1	Substitution - coding silent(1)	p.R741R(1)	central_nervous_system(1)	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						c.(2221-2223)ggafs		ankyrin repeat domain 35																																				SO:0001589	frameshift_variant	148741							g.chr1:145562533_145562534insG	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.2224dupG	1.37:g.145562536_145562536dupG	ENSP00000347802:p.Arg741fs						p.G741fs	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			10	2308_2309	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		741					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Frame_Shift_Ins	INS	ENST00000355594.4	37	c.2221_2222insG	CCDS919.1																																																																																				0.653	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		23	70						23	70	---	---	---	---	G	145562534	-	G	145562533	7	5	111	1	0	1	1	0	0	0	0	0	664	643	23	0	2259	0	ANKRD35	1	145562533	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	4048	145562533	103688088	8	36474											
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagagcctgaagtcttAcaggactcactggatagatg	13	7	2	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		7	1657	0	0	0	1	0	7	1657					G	148594439	A	G	148594439	2	3	111	1	0	0	0	0	0	0	0	1	10237	388	14	4		4	NBPF15	1	148594439	Silent	SNP	A	TCGA-S4-A8RO-01A-12D-A377-08	3031906	148594439	100656182	9	36475											
C1orf105	92346	broad.mit.edu	37	chr1	172437641	172437641	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacagctgtcttccaCggattactgacagaggccta	10	13	1	2	rs181855196	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:172437641C>T	ENST00000367727.4	+	7	657	c.459C>T	c.(457-459)caC>caT	p.H153H	C1orf105_ENST00000367725.4_Silent_p.H143H|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	153										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGTCTTCCACGGATTACTGA	0.478													C|||	3	0.000599042	0.0	0.0	5008	,	,		17415	0.002		0.0	False		,,,				2504	0.001					ENST00000367727.4																			0				large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						c.(457-459)caC>caT		chromosome 1 open reading frame 105							161	171	168					1																	172437641		2203	4300	6503	SO:0001819	synonymous_variant	92346							g.chr1:172437641C>T	AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.459C>T	1.37:g.172437641C>T						C1orf105_ENST00000367726.1_3'UTR|C1orf105_ENST00000367725.4_Silent_p.H143H	p.H153H	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN			7	657	+			153					Q8IY02	Silent	SNP	ENST00000367727.4	37	c.459C>T	CCDS1301.1																																																																																				0.478	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084062.2	NM_139240		23	1243	0	0	0	1	0	23	1243					T	172437641	C	T	172437641	2	4	111	1	0	0	0	0	0	0	0	1	1986	535	19	1		1	C1orf105	1	172437641	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	23843202	172437641	76812980	10	36476											
SLC9A11	284525	broad.mit.edu	37	chr1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-													ctgttgccccgaaaatttccAaaaaaaattgatgcgatgct							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)tttfs	p.F199fs	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GAAAATTTCCAAAAAAAATTG	0.279																																						ENST00000367714.3																			0											c.(595-597)ttfs		solute carrier family 9, member C2 (putative)							52	56	54					1																	173552688		2203	4298	6501	SO:0001589	frameshift_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552688delA	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.597delT	1.37:g.173552688delA	ENSP00000356687:p.Phe199fs					RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs	p.F199fs	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			6	1019	-			199					Q86UF3	Frame_Shift_Del	DEL	ENST00000367714.3	37	c.597delT	CCDS1308.1																																																																																				0.279	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		8	756						8	756	---	---	---	---	-	173552688	A	-	173552688	7	5	111	1	0	1	0	1	0	0	0	0	14761	127	5	0	2869	0	SLC9A11	1	173552688	Frame_Shift_Del	DEL	A	TCGA-S4-A8RO-01A-12D-A377-08	1115047	173552688	75697933	11	36477											
DHX9	1660	broad.mit.edu	37	chr1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-													tgttcctggagctgtgttggTttttttgcctggctggaatc							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gttfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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						GCTGTGTTGGTTTTTTTGCCT	0.378																																					Colon(69;210 1162 3697 13559 39565)	ENST00000367549.3																			0				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						c.(1963-1965)gtfs		DEAH (Asp-Glu-Ala-His) box helicase 9							171	155	160					1																	182845333		1858	4091	5949	SO:0001589	frameshift_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845333delT	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.1964delT	1.37:g.182845333delT	ENSP00000356520:p.Val655fs						p.V655fs	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN			17	2074	+			655			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	ENST00000367549.3	37	c.1964delT	CCDS41444.1																																																																																				0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		7	809						7	809	---	---	---	---	-	182845333	T	-	182845333	7	5	111	1	0	1	0	1	0	0	0	0	4532	1725	60	0	2026	0	DHX9	1	182845333	Frame_Shift_Del	DEL	T	TCGA-S4-A8RO-01A-12D-A377-08	9292645	182845333	66405288	12	36478											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A													aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					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)	p.?(1)		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						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	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						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	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.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		17	490						17	490	---	---	---	---	A	183515267	-	A	183515266	7	5	111	1	0	1	1	0	0	0	0	0	14848	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	669933	183515266	65735355	13	36479											
CRB1	23418	broad.mit.edu	37	chr1	197411423	197411423	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgagcgctgcgaggtggacGtaagcagcctctccttttat	13	11	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:197411423G>A	ENST00000367400.3	+	11	4140		c.e11+1		RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000535699.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000367397.1_3'UTR	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						CGAGGTGGACGTAAGCAGCCT	0.478																																						ENST00000367400.3																			0				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	GRCh37	CS040833	CRB1	S		c.e11+1		crumbs homolog 1 (Drosophila)							198	182	187					1																	197411423		2203	4300	6503	SO:0001630	splice_region_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197411423G>A		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.4005+1G>A	1.37:g.197411423G>A						CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367397.1_3'UTR|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000544212.1_Splice_Site		NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			11	4140	+								A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Splice_Site	SNP	ENST00000367400.3	37		CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650712	0.87958	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000448952	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6189	0.95647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRB1	195678046	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.916000	0.87491	2.629000	0.89072	0.591000	0.81541	.		0.478	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	Intron	5	584	0	0	0	1	0	5	584					A	197411423	G	A	197411423	5	1	111	1	0	0	0	0	0	0	1	0	3857	1159	40	1	4048	1	CRB1	1	197411423	Splice_Site	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	13896157	197411423	51839198	14	36480											
USH2A	7399	broad.mit.edu	37	chr1	216144042	216144042	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaactccaaggagcaaatccGtaagcacgatagctgagttc	9	10	0	1	rs147615382		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:216144042G>A	ENST00000307340.3	-	36	7268	c.6882C>T	c.(6880-6882)taC>taT	p.Y2294Y	USH2A_ENST00000366943.2_Silent_p.Y2294Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9. {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)		GAGCAAATCCGTAAGCACGAT	0.418										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6880-6882)taC>taT		Usher syndrome 2A (autosomal recessive, mild)		G		2,4404	4.2+/-10.8	0,2,2201	112	106	108		6882	-1.1	0.2	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USH2A	NM_206933.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		2294/5203	216144042	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216144042G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6882C>T	1.37:g.216144042G>A		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.Y2294Y	p.Y2294Y			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	36	7268	-			2294			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.6882C>T	CCDS31025.1																																																																																				0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	629	0	0	0	1	0	5	629					A	216144042	G	A	216144042	2	1	111	1	0	0	0	0	0	0	0	1	17090	1140	40	1		1	USH2A	1	216144042	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	18732619	216144042	33106579	15	36481											
SLC35F3	148641	broad.mit.edu	37	chr1	234458806	234458808	+	In_Frame_Del	DEL	CAT	CAT	-													aatggggtccgggtcatcgcCatcatcatcatcggcctggg							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:234458806_234458808delCAT	ENST00000366617.3	+	7	1311_1313	c.1083_1085delCAT	c.(1081-1086)gccatc>gcc	p.I365del	SLC35F3_ENST00000366618.3_In_Frame_Del_p.I434del			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	365					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)			GGGTCATCGCCATCATCATCATC	0.552																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(1288-1293)gcc>gc		solute carrier family 35, member F3																																				SO:0001651	inframe_deletion	148641				transport	integral to membrane		g.chr1:234458806_234458808delCAT		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.1083_1085delCAT	1.37:g.234458815_234458817delCAT	ENSP00000355576:p.Ile365del					SLC35F3_ENST00000366617.3_In_Frame_Del_p.AI361del	p.AI430del	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		8	1435_1437	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	361					Q5TDD6|Q8N9C9	In_Frame_Del	DEL	ENST00000366617.3	37	c.1290_1292delCAT																																																																																					0.552	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		7	380						7	380	---	---	---	---	-	234458808	CAT	-	234458806	7	5	111	1	0	1	0	1	0	0	0	0	14640	581	21	0	1320	0	SLC35F3	1	234458806	In_Frame_Del	DEL	CAT	TCGA-S4-A8RO-01A-12D-A377-08	18314764	234458806	14791815	16	36482											
FMN2	56776	broad.mit.edu	37	chr1	240256586	240256586	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaggacctgacgcccccGcggccgcttccctgcccggc	12	21	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:240256586G>A	ENST00000319653.9	+	1	1407	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	393					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.A536T(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)			TGACGCCCCCGCGGCCGCTTC	0.726																																						ENST00000319653.9																			1	Substitution - Missense(1)	p.A536T(1)	endometrium(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						c.(1177-1179)Gcg>Acg		formin 2							17	23	21					1																	240256586		2191	4287	6478	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256586G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1177G>A	1.37:g.240256586G>A	ENSP00000318884:p.Ala393Thr						p.A393T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1407	+	Ovarian(103;0.127)	all_cancers(173;0.013)	393					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1177G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	3.560	-0.089766	0.07053	.	.	ENSG00000155816	ENST00000319653	T	0.28255	1.62	4.15	-0.182	0.13287	.	0.885835	0.09526	N	0.790278	T	0.15435	0.0372	N	0.12182	0.205	0.09310	N	0.999999	B	0.12630	0.006	B	0.06405	0.002	T	0.24476	-1.0159	10	0.46703	T	0.11	.	5.4466	0.16539	0.2993:0.1625:0.5382:0.0	.	393	Q9NZ56	FMN2_HUMAN	T	393	ENSP00000318884:A393T	ENSP00000318884:A393T	A	+	1	0	FMN2	238323209	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.165000	0.09968	0.085000	0.17107	-0.379000	0.06801	GCG		0.726	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		37	62	0	0	0	1	0	37	62					A	240256586	G	A	240256586	3	1	111	1	0	0	0	0	1	0	0	0	5975	1087	38	1	1179	1	FMN2	1	240256586	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	5797780	240256586	8994035	17	36483											
MYT1L	23040	broad.mit.edu	37	chr2	1983497	1983497	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agggaagcgcggacatacctCgaacccctttggaccgcgtg	13	13	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:1983497C>A	ENST00000399161.2	-	6	800	c.53G>T	c.(52-54)cGa>cTa	p.R18L	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					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)		GGACATACCTCGAACCCCTTT	0.582																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(52-54)cGa>cTa		myelin transcription factor 1-like							50	58	55					2																	1983497		2010	4177	6187	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1983497C>A	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.53G>T	2.37:g.1983497C>A	ENSP00000382114:p.Arg18Leu					MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	p.R18L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	6	800	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	18					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.53G>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.324853	0.81580	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56444	0.46;0.46	5.1	5.1	0.69264	.	0.000000	0.47852	D	0.000207	T	0.69251	0.3090	L	0.54323	1.7	0.58432	D	0.999995	D;D	0.63046	0.987;0.992	D;D	0.70487	0.931;0.969	T	0.71656	-0.4527	10	0.72032	D	0.01	-19.3941	18.8902	0.92397	0.0:1.0:0.0:0.0	.	18;18	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	L	18	ENSP00000382114:R18L;ENSP00000396103:R18L	ENSP00000295067:R18L	R	-	2	0	MYT1L	1962504	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.591000	0.74090	2.539000	0.85634	0.591000	0.81541	CGA		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		37	114	1	0	2.04263e-09	1	2.15071e-09	37	114					A	1983497	C	A	1983497	3	1	111	1	0	0	0	0	1	0	0	0	10148	884	31	3	3581	3	MYT1L	2	1983497	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		1983497	241215876	18	36484											
CRIM1	51232	broad.mit.edu	37	chr2	36704145	36704145	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgttgccatctgcttcaccGcccagtgtggtgagataaac	11	12	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:36704145G>A	ENST00000280527.2	+	6	1472	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	369	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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)				CTGCTTCACCGCCCAGTGTGG	0.483																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1105-1107)Gcc>Acc		cysteine rich transmembrane BMP regulator 1 (chordin-like)							125	111	116					2																	36704145		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36704145G>A	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.1105G>A	2.37:g.36704145G>A	ENSP00000280527:p.Ala369Thr						p.A369T	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			6	1472	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	369			VWFC 1.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.1105G>A	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175054	0.94807	.	.	ENSG00000150938	ENST00000280527	T	0.71579	-0.58	5.93	5.93	0.95920	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67169	-0.5738	10	0.14656	T	0.56	-18.4323	19.3421	0.94347	0.0:0.0:1.0:0.0	.	369	Q9NZV1	CRIM1_HUMAN	T	369	ENSP00000280527:A369T	ENSP00000280527:A369T	A	+	1	0	CRIM1	36557649	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	9.714000	0.98744	2.826000	0.97356	0.655000	0.94253	GCC		0.483	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		5	335	0	0	0	1	0	5	335					A	36704145	G	A	36704145	3	1	111	1	0	0	0	0	1	0	0	0	3882	1087	38	1	1127	1	CRIM1	2	36704145	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	34720648	36704145	206495228	19	36485											
GFPT1	2673	broad.mit.edu	37	chr2	69556893	69556893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcatcacacatcataaggGcaaacatcacaagggataca	7	10	4	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:69556893G>A	ENST00000357308.4	-	16	1698	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V	GFPT1_ENST00000361060.5_Missense_Mutation_p.A489V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	507	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CATCATAAGGGCAAACATCAC	0.408																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(1519-1521)gCc>gTc		glutamine--fructose-6-phosphate transaminase 1							137	118	125					2																	69556893		2203	4300	6503	SO:0001583	missense	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69556893G>A		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.1520C>T	2.37:g.69556893G>A	ENSP00000349860:p.Ala507Val					GFPT1_ENST00000361060.4_Missense_Mutation_p.A489V	p.A507V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			16	1698	-			507			SIS 1.		Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	c.1520C>T	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875075	0.91664	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.62941	-0.01;-0.01	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.86268	2.805	0.80722	D	1	D	0.65815	0.995	P	0.59761	0.863	T	0.82959	-0.0198	10	0.87932	D	0	-11.8633	18.081	0.89441	0.0:0.0:1.0:0.0	.	489	Q06210-2	.	V	507;489	ENSP00000349860:A507V;ENSP00000354347:A489V	ENSP00000349860:A507V	A	-	2	0	GFPT1	69410397	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.388000	0.59633	2.758000	0.94735	0.563000	0.77884	GCC		0.408	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	186	0	0	0	1	0	4	186					A	69556893	G	A	69556893	3	1	111	1	0	0	0	0	1	0	0	0	6374	1203	42	2	599	2	GFPT1	2	69556893	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	32852748	69556893	173642480	20	36486											
TGOLN2	10618	broad.mit.edu	37	chr2	85554675	85554675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcttttggagtctgCggctccggatgcgacttggt	16	9	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:85554675C>T	ENST00000409232.3	-	2	241	c.180G>A	c.(178-180)ccG>ccA	p.P60P	TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000377386.3_Silent_p.P60P			O43493	TGON2_HUMAN	trans-golgi network protein 2	60	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGGAGTCTGCGGCTCCGGAT	0.597																																						ENST00000377386.3																			0											c.(178-180)ccG>ccA		trans-golgi network protein 2							94	97	96					2																	85554675		1964	4147	6111	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554675C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.180G>A	2.37:g.85554675C>T						TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000409232.3_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P	p.P60P			O43493	TGON2_HUMAN			2	642	-			60			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.180G>A	CCDS56126.1																																																																																				0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		5	539	0	0	0	1	0	5	539					T	85554675	C	T	85554675	2	4	111	1	0	0	0	0	0	0	0	1	15888	755	27	1		1	TGOLN2	2	85554675	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	15997782	85554675	157644698	21	36487											
GPAT2	150763	broad.mit.edu	37	chr2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcgagctttgggtccGcacactctggaaagaagaga	14	8	1	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|FAHD2CP_ENST00000607780.1_RNA			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					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						CTTTGGGTCCGCACACTCTGG	0.557																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2221-2223)gCg>gTg		glycerol-3-phosphate acyltransferase 2, mitochondrial							127	130	129					2																	96688465		1940	4129	6069	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688465G>A	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.2222C>T	2.37:g.96688465G>A	ENSP00000389395:p.Ala741Val					GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V	p.A741V			Q6NUI2	GPAT2_HUMAN			22	2681	-			741					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2222C>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.68|11.68	1.709764|1.709764	0.30322|0.30322	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	T;T;T|T	0.79352|0.78924	-1.26;-1.26;-0.28|-1.22	4.91|4.91	-4.54|-4.54	0.03452|0.03452	.|.	.|.	.|.	.|.	.|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.13145|0.02656	0.007;0.001;0.001;0.006|0.0	B;B;B;B|B	0.08055|0.01281	0.003;0.001;0.001;0.003|0.0	T|T	0.60182|0.60182	-0.7313|-0.7313	9|9	0.06757|0.66056	T|D	0.87|0.02	-15.4873|-15.4873	13.7313|13.7313	0.62789|0.62789	0.2194:0.0:0.7806:0.0|0.2194:0.0:0.7806:0.0	.|.	670;747;741;670|657	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9|Q6NUI2-3	.;.;GPAT2_HUMAN;.|.	V|W	741;741;670|657	ENSP00000352547:A741V;ENSP00000389395:A741V;ENSP00000393770:A670V|ENSP00000366341:R657W	ENSP00000352547:A741V|ENSP00000366341:R657W	A|R	-|-	2|1	0|2	GPAT2|GPAT2	96052192|96052192	0.005000|0.005000	0.15991|0.15991	0.276000|0.276000	0.24689|0.24689	0.761000|0.761000	0.43186|0.43186	-0.030000|-0.030000	0.12308|0.12308	-0.818000|-0.818000	0.04329|0.04329	-1.269000|-1.269000	0.01422|0.01422	GCG|CGG		0.557	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		7	482	0	0	0	1	0	7	482					A	96688465	G	A	96688465	3	1	111	1	0	0	0	0	1	0	0	0	6618	1087	38	1	173	1	GPAT2	2	96688465	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	11133790	96688465	146510908	22	36488											
TANC1	85461	broad.mit.edu	37	chr2	160086900	160086900	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcgacctgcagcgacgtgCgacacccagcttccctcacc	10	18	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:160086900C>T	ENST00000263635.6	+	27	5200	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1549*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1655					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						CAGCGACGTGCGACACCCAGC	0.547																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(4963-4965)Cga>Tga		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							69	71	70					2																	160086900		2049	4198	6247	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160086900C>T	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.4963C>T	2.37:g.160086900C>T	ENSP00000263635:p.Arg1655*					TANC1_ENST00000454300.1_Nonsense_Mutation_p.R1549*	p.R1655*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			27	5200	+			1655					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.4963C>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	41	9.081729	0.99059	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.09	3.09	0.35607	.	0.350540	0.30658	N	0.009145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1184	0.53878	0.4071:0.5929:0.0:0.0	.	.	.	.	X	1549;1655	.	.	R	+	1	2	TANC1	159795146	0.579000	0.26725	0.249000	0.24280	0.142000	0.21351	1.446000	0.35090	0.562000	0.29204	-0.808000	0.03180	CGA		0.547	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			7	795	0	0	0	1	0	7	795					T	160086900	C	T	160086900	4	4	111	1	0	0	0	0	0	1	0	0	15596	760	27	1	5066	1	TANC1	2	160086900	Nonsense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	63398435	160086900	83112473	23	36489											
WNT6	7475	broad.mit.edu	37	chr2	219735855	219735855	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggctgagccggaagtggtgGcagagctagctcggggcgcc	19	10	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:219735855G>A	ENST00000233948.3	+	2	404	c.187G>A	c.(187-189)Gca>Aca	p.A63T	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	63					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	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)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTGGTGGCAGAGCTAGC	0.682																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(187-189)Gca>Aca		wingless-type MMTV integration site family, member 6							48	61	56					2																	219735855		2203	4298	6501	SO:0001583	missense	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735855G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"Wingless-type MMTV integration sites"	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.187G>A	2.37:g.219735855G>A	ENSP00000233948:p.Ala63Thr					WNT6_ENST00000486233.1_Intron	p.A63T	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	404	+		Renal(207;0.0474)	63					Q9H1J6|Q9H238	Missense_Mutation	SNP	ENST00000233948.3	37	c.187G>A	CCDS2425.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.013700	0.35511	.	.	ENSG00000115596	ENST00000233948	T	0.76448	-1.02	5.17	5.17	0.71159	.	0.451424	0.24781	N	0.035645	T	0.63581	0.2523	L	0.31926	0.97	0.24988	N	0.991557	B	0.16396	0.017	B	0.19391	0.025	T	0.46386	-0.9195	10	0.14252	T	0.57	.	7.7483	0.28881	0.0881:0.1792:0.7326:0.0	.	63	Q9Y6F9	WNT6_HUMAN	T	63	ENSP00000233948:A63T	ENSP00000233948:A63T	A	+	1	0	WNT6	219444099	0.948000	0.32251	0.996000	0.52242	0.887000	0.51463	1.737000	0.38197	2.407000	0.81776	0.586000	0.80456	GCA		0.682	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		301	295	0	0	0	1	0	301	295					A	219735855	G	A	219735855	3	1	111	1	0	0	0	0	1	0	0	0	17447	1203	42	2	193	2	WNT6	2	219735855	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	59648955	219735855	23463518	24	36490											
AGXT	189	broad.mit.edu	37	chr2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctatgactggagagacatcGtcagctacgtcatagaccac	10	11	2	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:241817502G>A	ENST00000307503.3	+	10	1393	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1). {ECO:0000269|PubMed:15253729}.		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)	p.V336I(1)		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)	GAGAGACATCGTCAGCTACGT	0.617																																						ENST00000307503.3																			1	Substitution - Missense(1)	p.V336I(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.(1006-1008)Gtc>Atc		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						58	51	53					2																	241817502		2203	4300	6503	SO:0001583	missense	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241817502G>A	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.1006G>A	2.37:g.241817502G>A	ENSP00000302620:p.Val336Ile						p.V336I	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		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)	10	1393	+		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)	336		V -> D (in HP1).			Q53QU6	Missense_Mutation	SNP	ENST00000307503.3	37	c.1006G>A	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	G	3.824	-0.037151	0.07497	.	.	ENSG00000172482	ENST00000307503	D	0.93547	-3.24	4.02	1.11	0.20524	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.923809	0.09133	N	0.844131	D	0.86460	0.5938	L	0.41573	1.285	0.09310	N	1	B;B	0.32338	0.365;0.109	B;B	0.22386	0.039;0.018	T	0.72487	-0.4278	10	0.19147	T	0.46	-28.2281	6.537	0.22359	0.4922:0.0:0.5077:0.0	.	214;336	Q9UJX1;P21549	.;SPYA_HUMAN	I	336	ENSP00000302620:V336I	ENSP00000302620:V336I	V	+	1	0	AGXT	241466175	0.000000	0.05858	0.445000	0.26908	0.097000	0.18754	0.572000	0.23684	0.294000	0.22547	0.563000	0.77884	GTC		0.617	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030		53	48	0	0	0	1	0	53	48					A	241817502	G	A	241817502	3	1	111	1	0	0	0	0	1	0	0	0	404	1145	40	1	1044	1	AGXT	2	241817502	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	22081647	241817502	1381871	25	36491											
RBM15B	29890	broad.mit.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-													catggggctgaggaacggggCcaccaccaccaccaccacga					rs147738916	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	132						7	132	---	---	---	---	-	51430824	CCA	-	51430822	7	5	111	1	0	1	0	1	0	0	0	0	13167	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-S4-A8RO-01A-12D-A377-08		51430822	146591608	26	36492											
PROS1	5627	broad.mit.edu	37	chr3	93611912	93611912	+	Nonsense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatcgatagattctgcGtacagtatcacgccttctga	10	9	3	3	rs374634410		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:93611912G>C	ENST00000394236.3	-	10	1336	c.1020C>G	c.(1018-1020)taC>taG	p.Y340*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	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)	TAGATTCTGCGTACAGTATCA	0.393																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1018-1020)taC>taG		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						83	77	79					3																	93611912		2203	4300	6503	SO:0001587	stop_gained	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611912G>C		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.1020C>G	3.37:g.93611912G>C	ENSP00000377783:p.Tyr340*					PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	p.Y340*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			10	1336	-			340			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	c.1020C>G	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	G	36	5.885622	0.97068	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	4.47	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4211	0.27073	0.7526:0.0:0.2474:0.0	.	.	.	.	X	340;209	.	ENSP00000377783:Y340X	Y	-	3	2	PROS1	95094602	1.000000	0.71417	0.997000	0.53966	0.557000	0.35523	0.858000	0.27845	0.263000	0.21812	-0.324000	0.08512	TAC		0.393	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		60	113	0	0	0	1	0	60	113					C	93611912	G	C	93611912	4	2	111	1	0	0	0	0	0	1	0	0	12605	1140	40	5	1034	5	PROS1	3	93611912	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	42181090	93611912	104410518	27	36493											
OR5H1	26341	broad.mit.edu	37	chr3	97852022	97852022	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgctttaatccatgaaGgatttttattcagactaacc	5	8	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97852022G>T	ENST00000354565.2	+	1	481	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AATCCATGAAGGATTTTTATT	0.358																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(481-483)Gga>Tga		olfactory receptor, family 5, subfamily H, member 1							32	43	40					3																	97852022		2182	4276	6458	SO:0001587	stop_gained	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852022G>T	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.481G>T	3.37:g.97852022G>T	ENSP00000346575:p.Gly161*					RP11-343D2.11_ENST00000508964.1_RNA	p.G161*	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	481	+			161						Nonsense_Mutation	SNP	ENST00000354565.2	37	c.481G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	7.459	0.644345	0.14451	.	.	ENSG00000231192	ENST00000354565	.	.	.	3.57	2.68	0.31781	.	0.626401	0.13894	N	0.355411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.4928	0.33110	0.121:0.0:0.879:0.0	.	.	.	.	X	161	.	ENSP00000346575:G161X	G	+	1	0	OR5H1	99334712	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.384000	0.07389	0.683000	0.31428	0.195000	0.17529	GGA		0.358	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		39	384	1	0	2.14255e-21	1	2.32988e-21	39	384					T	97852022	G	T	97852022	4	4	111	1	0	0	0	0	0	1	0	0	11201	1001	35	3	483	3	OR5H1	3	97852022	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	4240110	97852022	100170408	28	36494											
OR5H14	403273	broad.mit.edu	37	chr3	97868710	97868710	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgctttaatccatgaaGgatttttattcagactaacc	5	8	2	2	rs547429427	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97868710G>T	ENST00000437310.1	+	1	541	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATCCATGAAGGATTTTTATT	0.353																																						ENST00000437310.1																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(481-483)Gga>Tga		olfactory receptor, family 5, subfamily H, member 14							103	105	104					3																	97868710		2202	4300	6502	SO:0001587	stop_gained	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868710G>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.481G>T	3.37:g.97868710G>T	ENSP00000401706:p.Gly161*						p.G161*	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN			1	541	+			161					B9EH15	Nonsense_Mutation	SNP	ENST00000437310.1	37	c.481G>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	g	10.51	1.369165	0.24771	.	.	ENSG00000236032	ENST00000437310	.	.	.	2.49	-4.97	0.03029	.	0.899723	0.09201	N	0.834639	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	1.2356	0.01952	0.3199:0.1452:0.3874:0.1475	.	.	.	.	X	161	.	ENSP00000401706:G161X	G	+	1	0	OR5H14	99351400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.434000	0.01021	-1.909000	0.01085	-1.051000	0.02340	GGA		0.353	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			9	819	1	0	0.307466	1	0.307466	9	819					T	97868710	G	T	97868710	4	4	111	1	0	0	0	0	0	1	0	0	11202	1001	35	3	483	3	OR5H14	3	97868710	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	16688	97868710	100153720	29	36495											
MED12L	116931	broad.mit.edu	37	chr3	151075109	151075109	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcatcgtggctgttctcaggCgctatcacagttgtctaatc	10	11	3	0	rs374174117		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:151075109C>T	ENST00000474524.1	+	18	2703	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	MED12L_ENST00000273432.4_Missense_Mutation_p.R749C|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	889						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)			TGTTCTCAGGCGCTATCACAG	0.453																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2665-2667)Cgc>Tgc		mediator complex subunit 12-like		C	CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	128	109	116		2665,	4.4	0.9	3		116	0,8600		0,0,4300	no	missense,intron	P2RY12,MED12L	NM_053002.4,NM_022788.3	180,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	889/2146,	151075109	1,13005	2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151075109C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2665C>T	3.37:g.151075109C>T	ENSP00000417235:p.Arg889Cys					P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.R749C	p.R889C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		18	2703	+			889					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.2665C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953030	0.73902	2.27E-4	0.0	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.79454	-1.27;-1.27	5.3	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.72982	0.979;0.616;0.635	D	0.86975	0.2100	10	0.72032	D	0.01	-26.0088	15.3411	0.74296	0.141:0.859:0.0:0.0	.	749;889;889	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	C	889;749	ENSP00000417235:R889C;ENSP00000273432:R749C	ENSP00000273432:R749C	R	+	1	0	MED12L	152557799	1.000000	0.71417	0.866000	0.34008	0.957000	0.61999	2.622000	0.46427	1.336000	0.45506	-0.169000	0.13324	CGC		0.453	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		145	308	0	0	0	1	0	145	308					T	151075109	C	T	151075109	3	4	111	1	0	0	0	0	1	0	0	0	9470	768	27	1	2735	1	MED12L	3	151075109	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	53206399	151075109	46947321	30	36496											
BCL6	604	broad.mit.edu	37	chr3	187447652	187447652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccactgtacaggctgggggCaaaggctctgctctcacacc	12	14	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:187447652C>T	ENST00000406870.2	-	5	907	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	BCL6_ENST00000450123.2_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A181T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	181					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|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 isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCTGGGGGCAAAGGCTCTG	0.602			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(541-543)Gcc>Acc		B-cell CLL/lymphoma 6							68	67	67					3																	187447652		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447652C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.541G>A	3.37:g.187447652C>T	ENSP00000384371:p.Ala181Thr					RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A181T	p.A181T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	907	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		181					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.541G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268534	0.59540	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08546	3.08;3.08;3.08	5.47	5.47	0.80525	.	0.252544	0.46442	D	0.000284	T	0.08492	0.0211	L	0.36672	1.1	0.39564	D	0.969175	P;P	0.38922	0.596;0.651	B;B	0.35353	0.201;0.15	T	0.09952	-1.0651	10	0.56958	D	0.05	.	14.385	0.66938	0.0:0.8524:0.1476:0.0	.	181;181	B8PSA7;P41182	.;BCL6_HUMAN	T	181	ENSP00000384371:A181T;ENSP00000232014:A181T;ENSP00000413122:A181T	ENSP00000232014:A181T	A	-	1	0	BCL6	188930346	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.270000	0.43355	2.764000	0.94973	0.556000	0.70494	GCC		0.602	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		80	169	0	0	0	1	0	80	169					T	187447652	C	T	187447652	3	4	111	1	0	0	0	0	1	0	0	0	1377	710	25	2	1603	2	BCL6	3	187447652	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	36372543	187447652	10574778	31	36497											
RNF168	165918	broad.mit.edu	37	chr3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-													ttcttccatcgctcttcgccTtttttctgcctgtctttttt							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)aggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(490-492)ggfs		ring finger protein 168, E3 ubiquitin protein ligase							512	470	484					3																	196214338		2203	4300	6503	SO:0001589	frameshift_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196214338delT	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.490delA	3.37:g.196214338delT	ENSP00000320898:p.Arg166fs						p.R166fs	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	3	1084	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		166			Glu-rich.		Q8NA67|Q96NS4	Frame_Shift_Del	DEL	ENST00000318037.3	37	c.490delA	CCDS3317.1																																																																																				0.448	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		8	878						8	878	---	---	---	---	-	196214338	T	-	196214338	7	5	111	1	0	1	0	1	0	0	0	0	13509	1608	56	0	1241	0	RNF168	3	196214338	Frame_Shift_Del	DEL	T	TCGA-S4-A8RO-01A-12D-A377-08	8766686	196214338	1808092	32	36498											
GPR125	166647	broad.mit.edu	37	chr4	22436937	22436938	+	Frame_Shift_Del	DEL	TT	TT	-													tgaatttagagaagtacctcTtttgatttttcctccttggt							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:22436937_22436938delTT	ENST00000334304.5	-	10	1708_1709	c.1439_1440delAA	c.(1438-1440)aaafs	p.K480fs	GPR125_ENST00000502482.1_Frame_Shift_Del_p.K480fs|GPR125_ENST00000508133.1_Frame_Shift_Del_p.K254fs|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	480					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)				GAAGTACCTCTTTTGATTTTTC	0.337																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1438-1440)afs		G protein-coupled receptor 125																																				SO:0001589	frameshift_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22436937_22436938delTT	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.1439_1440delAA	4.37:g.22436939_22436940delTT	ENSP00000334952:p.Lys480fs					GPR125_ENST00000502482.1_Frame_Shift_Del_p.K480fs|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Frame_Shift_Del_p.K254fs	p.K480fs	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			10	1708_1709	-		Breast(46;0.198)	480					Q6UXK9|Q86SQ5|Q8TC55	Frame_Shift_Del	DEL	ENST00000334304.5	37	c.1439_1440delAA	CCDS33964.1																																																																																				0.337	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			94	213						94	213	---	---	---	---	-	22436938	TT	-	22436937	7	5	111	1	0	1	0	1	0	0	0	0	6668	1606	56	0	2565	0	GPR125	4	22436937	Frame_Shift_Del	DEL	TT	TCGA-S4-A8RO-01A-12D-A377-08		22436937	168717339	33	36499											
KCTD8	386617	broad.mit.edu	37	chr4	44177058	44177058	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtgcttttttagaggggcGatccaatgttaaagtgttag	13	4	0	1	rs549391615		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:44177058G>A	ENST00000360029.3	-	2	1454	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507										HNSCC(17;0.042)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		16662	0.0		0.0	False		,,,				2504	0.0					ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1171-1173)Cgc>Tgc		potassium channel tetramerization domain containing 8							165	164	164					4																	44177058		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177058G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1171C>T	4.37:g.44177058G>A	ENSP00000353129:p.Arg391Cys	HNSCC(17;0.042)					p.R391C	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			2	1454	-			391					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1171C>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768485	0.31320	.	.	ENSG00000183783	ENST00000360029	T	0.44083	0.93	4.56	3.68	0.42216	.	0.000000	0.46758	D	0.000275	T	0.50939	0.1645	L	0.36672	1.1	0.49582	D	0.999805	D	0.89917	1.0	D	0.64595	0.927	T	0.54655	-0.8261	10	0.87932	D	0	.	12.9862	0.58594	0.0:0.0:0.8317:0.1682	.	391	Q6ZWB6	KCTD8_HUMAN	C	391	ENSP00000353129:R391C	ENSP00000353129:R391C	R	-	1	0	KCTD8	43871815	1.000000	0.71417	0.995000	0.50966	0.196000	0.23810	3.014000	0.49590	1.202000	0.43218	0.650000	0.86243	CGC		0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			6	513	0	0	0	1	0	6	513					A	44177058	G	A	44177058	3	1	111	1	0	0	0	0	1	0	0	0	8145	1058	37	1	254	1	KCTD8	4	44177058	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	21740121	44177058	146977218	34	36500											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	14	12	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			5	71	0	0	0	1	0	5	71					T	140811108	C	T	140811108	2	4	111	1	0	0	0	0	0	0	0	1	9248	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	96634050	140811108	50343168	35	36501											
LRBA	987	broad.mit.edu	37	chr4	151509211	151509211	+	Frame_Shift_Del	DEL	T	T	-													tcttctcaccttggggtcgaTttttttgaagttaggatcct					rs34237929		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:151509211delT	ENST00000357115.3	-	41	6595	c.6352delA	c.(6352-6354)atcfs	p.I2118fs	LRBA_ENST00000535741.1_Frame_Shift_Del_p.I2107fs|LRBA_ENST00000507224.1_Frame_Shift_Del_p.I2107fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.I2107fs	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2118						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)					TTGGGGTCGATTTTTTTGAAG	0.453																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(6319-6321)tcfs		LPS-responsive vesicle trafficking, beach and anchor containing							150	164	159					4																	151509211		2203	4299	6502	SO:0001589	frameshift_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151509211delT	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.6352delA	4.37:g.151509211delT	ENSP00000349629:p.Ile2118fs					LRBA_ENST00000507224.1_Frame_Shift_Del_p.I2107fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.I2107fs|LRBA_ENST00000357115.3_Frame_Shift_Del_p.I2118fs	p.I2107fs			P50851	LRBA_HUMAN			40	6792	-	all_hematologic(180;0.151)		2118					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Frame_Shift_Del	DEL	ENST00000357115.3	37	c.6319delA	CCDS3773.1																																																																																				0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			7	1126						7	1126	---	---	---	---	-	151509211	T	-	151509211	7	5	111	1	0	1	0	1	0	0	0	0	8969	1493	52	0	2311	0	LRBA	4	151509211	Frame_Shift_Del	DEL	T	TCGA-S4-A8RO-01A-12D-A377-08	10698103	151509211	39645065	36	36502											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A													ttatttgtttcacttaggggINSaaaatggctttgttggcctc					rs376893532		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(433-438)ggaaatfs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878555_190878556insA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.439dupA	4.37:g.190878559_190878559dupA	ENSP00000226798:p.Lys146fs					FRG1_ENST00000514482.1_3'UTR	p.N146fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	657_658	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	146					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.435_436insA	CCDS34121.1																																																																																				0.351	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	75						7	75	---	---	---	---	A	190878556	-	A	190878555	7	5	111	1	0	1	1	0	0	0	0	0	6073	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	39369344	190878555	275721	37	36503											
IRX2	153572	broad.mit.edu	37	chr5	2749835	2749835	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagctggtacgggtaggccgCgctgccgtacgggtggtagc	19	10	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:2749835C>T	ENST00000382611.6	-	2	564	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000515640.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	106					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGCCGCGCTGCCGTAC	0.662																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(316-318)Gcg>Acg		iroquois homeobox 2							75	69	71					5																	2749835		2203	4299	6502	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749835C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.316G>A	5.37:g.2749835C>T	ENSP00000372056:p.Ala106Thr					IRX2_ENST00000302057.5_Missense_Mutation_p.A106T|IRX2_ENST00000502957.1_5'UTR	p.A106T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	564	-			106					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.316G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467539	0.63625	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	T;T;T	0.66280	-0.2;-0.2;-0.15	4.85	3.96	0.45880	Homeodomain-like (1);	0.108027	0.64402	D	0.000004	T	0.40448	0.1117	N	0.17474	0.49	0.42845	D	0.994069	B	0.32382	0.368	B	0.20184	0.028	T	0.35968	-0.9767	10	0.21540	T	0.41	-22.7679	13.2911	0.60272	0.0:0.7288:0.2712:0.0	.	106	Q9BZI1	IRX2_HUMAN	T	106;106;13	ENSP00000372056:A106T;ENSP00000307006:A106T;ENSP00000426151:A13T	ENSP00000307006:A106T	A	-	1	0	IRX2	2802835	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.500000	0.60387	2.239000	0.73571	0.655000	0.94253	GCG		0.662	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			83	160	0	0	0	1	0	83	160					T	2749835	C	T	2749835	3	4	111	1	0	0	0	0	1	0	0	0	7874	768	27	1	1111	1	IRX2	5	2749835	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		2749835	178165425	38	36504											
AP3B1	8546	broad.mit.edu	37	chr5	77436974	77436974	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	atttgcctctcacctgtttgGagttggttaaatacaatttt	7	7	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:77436974G>C	ENST00000255194.6	-	15	1818	c.1643C>G	c.(1642-1644)tCc>tGc	p.S548C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	548					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)		CACCTGTTTGGAGTTGGTTAA	0.408									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1642-1644)tCc>tGc		adaptor-related protein complex 3, beta 1 subunit							124	133	130					5																	77436974		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77436974G>C	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1643C>G	5.37:g.77436974G>C	ENSP00000255194:p.Ser548Cys					AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	p.S548C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	15	1818	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	548					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.1643C>G	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686301	0.88639	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.14266	2.52;2.52	5.63	5.63	0.86233	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.29579	-1.0007	10	0.87932	D	0	-8.1557	19.6633	0.95882	0.0:0.0:1.0:0.0	.	548	O00203	AP3B1_HUMAN	C	548;499;548;452	ENSP00000255194:S548C;ENSP00000430597:S499C	ENSP00000255194:S548C	S	-	2	0	AP3B1	77472730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.638000	0.89438	0.655000	0.94253	TCC		0.408	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			89	234	0	0	0	1	0	89	234					C	77436974	G	C	77436974	3	2	111	1	0	0	0	0	1	0	0	0	744	1174	41	5	1693	5	AP3B1	5	77436974	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	74687139	77436974	103478286	39	36505											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			7	800						7	800	---	---	---	---	-	79372776	TGA	-	79372774	7	5	111	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-S4-A8RO-01A-12D-A377-08	1935800	79372774	101542486	40	36506											
LOC153328	153328	broad.mit.edu	37	chr5	135188366	135188366	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagccagcaccgctgcGgggagccagaggccagtcct	13	16	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:135188366G>A	ENST00000420621.1	+	4	449	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SLC25A48_ENST00000433282.2_Missense_Mutation_p.G39R|SLC25A48_ENST00000412661.2_Missense_Mutation_p.G93R|SLC25A48_ENST00000274513.5_Missense_Mutation_p.G93R|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	93					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCACCGCTGCGGGGAGCCAGA	0.667																																						ENST00000274513.5																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(277-279)Ggg>Agg		solute carrier family 25, member 48							63	72	69					5																	135188366		1956	4132	6088	SO:0001583	missense	153328				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr5:135188366G>A		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"Solute carriers"	30451	protein-coding gene	gene with protein product	"HCC-down-regulated mitochondrial carrier protein"					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.277G>A	5.37:g.135188366G>A	ENSP00000407973:p.Gly93Arg					SLC25A48_ENST00000433282.2_Missense_Mutation_p.G39R|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Missense_Mutation_p.G93R|SLC25A48_ENST00000420621.1_Missense_Mutation_p.G93R	p.G93R			Q6ZT89	S2548_HUMAN			4	449	+			93					Q8TAV9	Missense_Mutation	SNP	ENST00000420621.1	37	c.277G>A		.	.	.	.	.	.	.	.	.	.	G	6.814	0.519364	0.13005	.	.	ENSG00000145832	ENST00000274513;ENST00000420621;ENST00000433282;ENST00000412661	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.08	-8.67	0.00863	.	0.646404	0.16859	N	0.196603	T	0.43211	0.1237	N	0.10685	0.025	0.41440	D	0.987911	B;B	0.34147	0.002;0.438	B;B	0.23716	0.008;0.048	T	0.43114	-0.9411	10	0.20519	T	0.43	-15.6428	7.7379	0.28825	0.4958:0.2008:0.3033:0.0	.	93;93	Q6ZT89-3;Q6ZT89-2	.;.	R	93;93;39;93	ENSP00000274513:G93R;ENSP00000407973:G93R;ENSP00000399834:G39R;ENSP00000413049:G93R	ENSP00000274513:G93R	G	+	1	0	SLC25A48	135216265	0.965000	0.33210	0.005000	0.12908	0.036000	0.12997	0.890000	0.28295	-2.100000	0.00848	-1.773000	0.00660	GGG		0.667	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_145282		113	170	0	0	0	1	0	113	170					A	135188366	G	A	135188366	3	1	111	1	0	0	0	0	1	0	0	0	8906	1116	39	1	291	1	LOC153328	5	135188366	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	55815592	135188366	45726894	41	36507											
PCDHA5	56143	broad.mit.edu	37	chr5	140202956	140202956	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaagtggagctgctgcagttCcaggtgagcgcgcgcgacgc	17	11	0	1	rs202138902	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140202956C>T	ENST00000529859.1	+	1	1596	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.F532F|PCDHA5_ENST00000378126.3_Silent_p.F532F|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	532	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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAGTTCCAGGTGAGCG	0.692																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1594-1596)ttC>ttT									46	53	51					5																	140202956		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140202956C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1596C>T	5.37:g.140202956C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.F532F|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F532F|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.F532F	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1596	+								O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1596C>T	CCDS54917.1																																																																																				0.692	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	500	0	0	0	1	0	5	500					T	140202956	C	T	140202956	2	4	111	1	0	0	0	0	0	0	0	1	11569	854	30	2		2	PCDHA5	5	140202956	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	5014590	140202956	40712304	42	36508											
PCDHB7	56129	broad.mit.edu	37	chr5	140553979	140553979	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctcaggtccctggactaCgaggccctgcaggcgttcga	13	15	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140553979C>T	ENST00000231137.3	+	1	1737	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGACTACGAGGCCCTGC	0.711																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1561-1563)taC>taT									73	78	76					5																	140553979		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553979C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1563C>T	5.37:g.140553979C>T							p.Y521Y	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1737	+			521			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1563C>T	CCDS4249.1																																																																																				0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		46	386	0	0	0	1	0	46	386					T	140553979	C	T	140553979	2	4	111	1	0	0	0	0	0	0	0	1	11589	547	19	1		1	PCDHB7	5	140553979	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	351023	140553979	40361281	43	36509											
PCDH1	5097	broad.mit.edu	37	chr5	141248263	141248263	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcactgctggcgcgtggGgggctgccgccatcctgcac	17	14	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:141248263G>A	ENST00000394536.3	-	2	913	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PCDH1_ENST00000536585.1_Silent_p.P236P|PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000287008.3_Silent_p.P258P	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	258	Cadherin 2. {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)		TGGCGCGTGGGGGGCTGCCGC	0.607																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				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						c.(772-774)ccC>ccT		protocadherin 1							62	56	58					5																	141248263		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248263G>A	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.774C>T	5.37:g.141248263G>A						PCDH1_ENST00000394536.3_Silent_p.P258P|PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000536585.1_Silent_p.P236P|PCDH1_ENST00000503492.1_Silent_p.P258P	p.P258P	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	921	-		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)	258			Cadherin 2.		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.774C>T	CCDS43375.1																																																																																				0.607	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		46	101	0	0	0	1	0	46	101					A	141248263	G	A	141248263	2	1	111	1	0	0	0	0	0	0	0	1	11548	1219	43	2		2	PCDH1	5	141248263	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	694284	141248263	39666997	44	36510											
TCOF1	6949	broad.mit.edu	37	chr5	149777931	149777932	+	Frame_Shift_Ins	INS	-	-	A													cttaggaaaaaaagacaaagINSaaaaaaaagaaaagaagaag					rs369642034		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:149777931_149777932insA	ENST00000504761.2	+	25	4357_4358	c.4357_4358insA	c.(4357-4359)gaafs	p.E1453fs	TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.E1377fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.E1376fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.E1416fs|TCOF1_ENST00000451292.1_Frame_Shift_Ins_p.E1490fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.E1453fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.E1454fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1453	Poly-Lys.				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)			aaaagacaaagaaaaaaaagaa	0.421																																						ENST00000451292.1																			0				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						c.(4468-4470)aaafs		Treacher Collins-Franceschetti syndrome 1																																				SO:0001589	frameshift_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149777931_149777932insA		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.4365dupA	5.37:g.149777939_149777939dupA	ENSP00000421655:p.Glu1453fs					TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.K1377fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.K1416fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.K1454fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.K1376fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.K1453fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.K1453fs	p.K1490fs			Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		26	4576_4577	+		all_hematologic(541;0.224)	1453					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Frame_Shift_Ins	INS	ENST00000504761.2	37	c.4468_4469insA	CCDS54936.1																																																																																				0.421	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		7	298						7	298	---	---	---	---	A	149777932	-	A	149777931	7	5	111	1	0	1	1	0	0	0	0	0	15760	943	33	0	4480	0	TCOF1	5	149777931	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	8529668	149777931	31137329	45	36511											
SYCP2L	221711	broad.mit.edu	37	chr6	10894138	10894138	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatgcattccatgataaaggAtttcagaaaataaaagaata	7	4	1	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:10894138A>T	ENST00000283141.6	+	3	413	c.117A>T	c.(115-117)ggA>ggT	p.G39G	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						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)			ATGATAAAGGATTTCAGAAAA	0.299																																						ENST00000283141.6																			0				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(115-117)ggA>ggT		synaptonemal complex protein 2-like							34	33	33					6																	10894138		1798	4060	5858	SO:0001819	synonymous_variant	221711					nucleus		g.chr6:10894138A>T	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.117A>T	6.37:g.10894138A>T						RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	p.G39G	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		3	413	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	39					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	ENST00000283141.6	37	c.117A>T	CCDS43423.1																																																																																				0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		47	73	0	0	0	1	0	47	73					T	10894138	A	T	10894138	2	4	111	1	0	0	0	0	0	0	0	1	15485	320	12	5		5	SYCP2L	6	10894138	Silent	SNP	A	TCGA-S4-A8RO-01A-12D-A377-08		10894138	160220929	46	36512											
RBM24	221662	broad.mit.edu	37	chr6	17283114	17283114	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatggcagaaaggccaacGtgaacctggcatacttagga	12	8	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:17283114G>A	ENST00000379052.5	+	2	483	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RBM24_ENST00000318204.5_Missense_Mutation_p.V38M|RBM24_ENST00000425446.2_Missense_Mutation_p.V25M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	83	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AAAGGCCAACGTGAACCTGGC	0.537																																						ENST00000379052.5																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(247-249)Gtg>Atg		RNA binding motif protein 24							125	95	105					6																	17283114		2203	4300	6503	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17283114G>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"RNA binding motif (RRM) containing"	21539	protein-coding gene	gene with protein product			"RNA-binding region (RNP1, RRM) containing 6"	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.247G>A	6.37:g.17283114G>A	ENSP00000368341:p.Val83Met					RBM24_ENST00000318204.5_Missense_Mutation_p.V38M|RBM24_ENST00000425446.2_Missense_Mutation_p.V25M	p.V83M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		2	483	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	83			RRM.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.247G>A	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889107	0.91814	.	.	ENSG00000112183	ENST00000379052;ENST00000509686;ENST00000425446;ENST00000318204	T;D;T;T	0.84298	2.72;-1.83;1.47;2.72	4.8	4.8	0.61643	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.135582	0.48767	D	0.000169	D	0.93936	0.8059	H	0.95437	3.67	0.80722	D	1	D;P;P	0.65815	0.995;0.652;0.652	D;P;P	0.66084	0.941;0.459;0.459	D	0.95757	0.8797	10	0.87932	D	0	-12.3307	17.9074	0.88923	0.0:0.0:1.0:0.0	.	38;83;83	Q9BX46-2;Q9BX46;A8KAI7	.;RBM24_HUMAN;.	M	83;42;25;38	ENSP00000368341:V83M;ENSP00000426222:V42M;ENSP00000396898:V25M;ENSP00000319551:V38M	ENSP00000319551:V38M	V	+	1	0	RBM24	17391093	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.547000	0.98100	2.222000	0.72286	0.650000	0.86243	GTG		0.537	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		19	152	0	0	0	1	0	19	152					A	17283114	G	A	17283114	3	1	111	1	0	0	0	0	1	0	0	0	13174	1145	40	1	286	1	RBM24	6	17283114	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	6388976	17283114	153831953	47	36513											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgcttgcgcttcttgcCgtccttcttctgcgccttag	10	15	3	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:27114499C>T	ENST00000356950.1	-	1	78	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G27S|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(79-81)Ggc>Agc		histone cluster 1, H2bk							179	145	157					6																	27114499		2203	4300	6503	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114499C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.79G>A	6.37:g.27114499C>T	ENSP00000349430:p.Gly27Ser					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G27S	p.G27S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	120	-			27					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.79G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487925	0.64074	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.22539	1.95;1.95	3.82	3.82	0.43975	Histone-fold (2);	.	.	.	.	T	0.09379	0.0231	L	0.46947	1.48	0.44946	D	0.997962	B	0.30146	0.27	B	0.08055	0.003	T	0.06356	-1.0831	9	0.46703	T	0.11	.	14.0417	0.64678	0.0:1.0:0.0:0.0	.	27	O60814	H2B1K_HUMAN	S	27	ENSP00000380100:G27S;ENSP00000349430:G27S	ENSP00000349430:G27S	G	-	1	0	HIST1H2BK	27222478	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.099000	0.64554	2.080000	0.62538	0.650000	0.86243	GGC		0.597	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		9	776	0	0	0	1	0	9	776					T	27114499	C	T	27114499	3	4	111	1	0	0	0	0	1	0	0	0	7180	652	23	1	305	1	HIST1H2BK	6	27114499	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	9831385	27114499	144000568	48	36514											
RGL2	5863	broad.mit.edu	37	chr6	33263940	33263940	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgggggtccacccgggaccgGagattgcggatgaggtcagc	18	10	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:33263940G>A	ENST00000497454.1	-	6	1128	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Silent_p.L129L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	211	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCGGGACCGGAGATTGCGGA	0.662																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(631-633)ctC>ctT		ral guanine nucleotide dissociation stimulator-like 2							82	97	92					6																	33263940		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33263940G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.633C>T	6.37:g.33263940G>A						PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Silent_p.L129L	p.L211L	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			6	1128	-			211			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.633C>T	CCDS4774.1																																																																																				0.662	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			6	640	0	0	0	1	0	6	640					A	33263940	G	A	33263940	2	1	111	1	0	0	0	0	0	0	0	1	13327	1161	41	2		2	RGL2	6	33263940	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	6149441	33263940	137851127	49	36515											
FTSJD2	23070	broad.mit.edu	37	chr6	37429865	37429865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcctattaccagccgtcctGccaactcagagaggtgaagc	10	13	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:37429865G>A	ENST00000373451.4	+	12	1476	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	438	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				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)										CAGCCGTCCTGCCAACTCAGA	0.463																																						ENST00000373451.4																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						c.(1312-1314)Gcc>Acc									149	141	143					6																	37429865		2203	4300	6503	SO:0001583	missense	0				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37429865G>A	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.1312G>A	6.37:g.37429865G>A	ENSP00000362550:p.Ala438Thr						p.A438T	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN			12	1476	+			438					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1312G>A	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	G	36	5.806409	0.96967	.	.	ENSG00000137200	ENST00000373451	T	0.30714	1.52	5.85	5.85	0.93711	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57004	-0.7885	10	0.66056	D	0.02	-21.0029	19.1516	0.93491	0.0:0.0:1.0:0.0	.	438	Q8N1G2	MTR1_HUMAN	T	438	ENSP00000362550:A438T	ENSP00000362550:A438T	A	+	1	0	FTSJD2	37537843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.568000	0.98166	2.773000	0.95371	0.655000	0.94253	GCC		0.463	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		5	465	0	0	0	1	0	5	465					A	37429865	G	A	37429865	3	1	111	1	0	0	0	0	1	0	0	0	6118	1319	46	2	1354	2	FTSJD2	6	37429865	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	4165925	37429865	133685202	50	36516											
DAAM2	23500	broad.mit.edu	37	chr6	39845988	39845988	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgccaggctcatcaaCgagaatgaagtgaaacagtg	11	10	2	3	rs376008956		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:39845988C>T	ENST00000398904.2	+	12	1493	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	DAAM2_ENST00000538976.1_Silent_p.N437N|DAAM2_ENST00000274867.4_Silent_p.N437N			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	437					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)					GGCTCATCAACGAGAATGAAG	0.547																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1309-1311)aaC>aaT		dishevelled associated activator of morphogenesis 2		T	,	0,4166		0,0,2083	75	83	80		1311,1311	-1.8	1	6		80	1,8429		0,1,4214	no	coding-synonymous,coding-synonymous	DAAM2	NM_001201427.1,NM_015345.3	,	0,1,6297	TT,TC,CC		0.0119,0.0,0.0079	,	437/1069,437/1068	39845988	1,12595	2083	4215	6298	SO:0001819	synonymous_variant	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39845988C>T	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.1311C>T	6.37:g.39845988C>T						DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000398904.2_Silent_p.N437N	p.N437N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			12	1493	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		437					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Silent	SNP	ENST00000398904.2	37	c.1311C>T	CCDS56426.1																																																																																				0.547	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			52	123	0	0	0	1	0	52	123					T	39845988	C	T	39845988	2	4	111	1	0	0	0	0	0	0	0	1	4227	535	19	1		1	DAAM2	6	39845988	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	2416123	39845988	131269079	51	36517											
GTPBP2	54676	broad.mit.edu	37	chr6	43593543	43593543	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacctcggtgatcttccgggGcatgtcgctatcataatcca	9	13	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:43593543G>A	ENST00000307126.5	-	4	456	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATCTTCCGGGGCATGTCGCTA	0.552																																					GBM(116;405 1620 28302 32150 44768)	ENST00000307126.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(457-459)Ccc>Tcc		GTP binding protein 2							268	213	231					6																	43593543		2203	4300	6503	SO:0001583	missense	54676						GTP binding|GTPase activity	g.chr6:43593543G>A	AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.457C>T	6.37:g.43593543G>A	ENSP00000303997:p.Pro153Ser					GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S|GTPBP2_ENST00000476510.1_5'UTR	p.P153S	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		4	456	-	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		153						Missense_Mutation	SNP	ENST00000307126.5	37	c.457C>T	CCDS4903.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400940	0.25291	.	.	ENSG00000172432	ENST00000307126;ENST00000307114;ENST00000452781	T;T;T	0.42513	1.56;1.59;0.97	4.78	4.78	0.61160	.	0.114076	0.64402	D	0.000013	T	0.11965	0.0291	N	0.05574	-0.02	0.50467	D	0.999875	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.09164	-1.0687	10	0.12766	T	0.61	-15.4253	17.9977	0.89189	0.0:0.0:1.0:0.0	.	145;153	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	S	153;65;145	ENSP00000303997:P153S;ENSP00000304893:P65S;ENSP00000410676:P145S	ENSP00000304893:P65S	P	-	1	0	GTPBP2	43701521	1.000000	0.71417	0.980000	0.43619	0.797000	0.45037	4.912000	0.63335	2.480000	0.83734	0.561000	0.74099	CCC		0.552	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040679.1			5	355	0	0	0	1	0	5	355					A	43593543	G	A	43593543	3	1	111	1	0	0	0	0	1	0	0	0	6910	1203	42	2	1387	2	GTPBP2	6	43593543	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	3747555	43593543	127521524	52	36518											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-													ccgagttgagacggctctccTggtggtggtggtggcggtgg							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				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)	p.Q33K(1)		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)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	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.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		8	384						8	384	---	---	---	---	-	137815212	TGG	-	137815210	7	5	111	1	0	1	0	1	0	0	0	0	10904	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-S4-A8RO-01A-12D-A377-08	94221667	137815210	33299857	53	36519											
IGF2R	3482	broad.mit.edu	37	chr6	160465585	160465585	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctgggaaaatttatttcctCtcccatgaaagagaaaggaa	8	7	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:160465585C>T	ENST00000356956.1	+	13	1809	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	554					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)	TTTATTTCCTCTCCCATGAAA	0.348																																						ENST00000356956.1																			0				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						c.(1660-1662)tCt>tTt		insulin-like growth factor 2 receptor							40	41	41					6																	160465585		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160465585C>T	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.1661C>T	6.37:g.160465585C>T	ENSP00000349437:p.Ser554Phe						p.S554F	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	13	1809	+		Breast(66;0.000777)|Ovarian(120;0.0305)	554					Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.1661C>T	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706258	0.68615	.	.	ENSG00000197081	ENST00000356956	T	0.02656	4.21	5.91	5.91	0.95273	Mannose-6-phosphate receptor, binding (1);	0.210963	0.51477	D	0.000082	T	0.12008	0.0292	M	0.82517	2.595	0.53688	D	0.999974	D	0.58620	0.983	P	0.62649	0.905	T	0.00583	-1.1659	10	0.66056	D	0.02	-9.3461	20.2985	0.98592	0.0:1.0:0.0:0.0	.	554	P11717	MPRI_HUMAN	F	554	ENSP00000349437:S554F	ENSP00000349437:S554F	S	+	2	0	IGF2R	160385575	1.000000	0.71417	0.927000	0.36925	0.330000	0.28571	5.766000	0.68843	2.793000	0.96121	0.655000	0.94253	TCT		0.348	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		6	208	0	0	0	1	0	6	208					T	160465585	C	T	160465585	3	4	111	1	0	0	0	0	1	0	0	0	7606	913	32	2	1711	2	IGF2R	6	160465585	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	22650375	160465585	10649482	54	36520											
C6orf118	168090	broad.mit.edu	37	chr6	165715133	165715133	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttcaggagatcttgcttggcGagcacttccttctggaaacg	11	10	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:165715133G>A	ENST00000230301.8	-	2	698	c.678C>T	c.(676-678)ctC>ctT	p.L226L	C6orf118_ENST00000543069.1_Silent_p.L122L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	226										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)		CTTGCTTGGCGAGCACTTCCT	0.622																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(364-366)ctC>ctT		chromosome 6 open reading frame 118							75	74	74					6																	165715133		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715133G>A		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.678C>T	6.37:g.165715133G>A						C6orf118_ENST00000230301.8_Silent_p.L226L	p.L122L			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	947	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	226					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.366C>T	CCDS5288.1																																																																																				0.622	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		73	191	0	0	0	1	0	73	191					A	165715133	G	A	165715133	2	1	111	1	0	0	0	0	0	0	0	1	2330	1045	37	1		1	C6orf118	6	165715133	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	5249548	165715133	5399934	55	36521											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C													cgccctgggccccggcgctgINSccccctttgcccccctgcag							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		11	57						11	57	---	---	---	---	C	44805119	-	C	44805118	7	5	111	1	0	1	1	0	0	0	0	0	17750	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08		44805118	114333545	56	36522											
RAMP3	10268	broad.mit.edu	37	chr7	45222846	45222846	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccagggcttcatcacCggcatccacaggcagttctt	10	15	3	0	rs138821752		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:45222846C>T	ENST00000242249.4	+	3	320	c.282C>T	c.(280-282)acC>acT	p.T94T	RAMP3_ENST00000481345.1_Silent_p.T94T|RAMP3_ENST00000496212.1_Silent_p.T94T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	94					calcium ion transport (GO:0006816)|cellular response to estradiol stimulus (GO:0071392)|G-protein coupled receptor signaling pathway involved in heart process (GO:0086103)|intracellular protein transport (GO:0006886)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of receptor recycling (GO:0001921)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCTTCATCACCGGCATCCACA	0.592																																						ENST00000242249.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11						c.(280-282)acC>acT		receptor (G protein-coupled) activity modifying protein 3	Pramlintide(DB01278)	C		1,4405	2.1+/-5.4	0,1,2202	82	82	82		282	-8.7	0	7	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RAMP3	NM_005856.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		94/149	45222846	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	10268				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	g.chr7:45222846C>T	AJ001016	CCDS5503.1	7p13-p12	2006-11-21	2006-11-21		ENSG00000122679	ENSG00000122679		"Receptor (G protein-coupled) activity modifying proteins"	9845	protein-coding gene	gene with protein product		605155	"receptor activity modifying protein 3", "receptor (calcitonin) activity modifying protein 3"				Standard	NM_005856		Approved		uc003tnb.3	O60896	OTTHUMG00000023729	ENST00000242249.4:c.282C>T	7.37:g.45222846C>T						RAMP3_ENST00000481345.1_Silent_p.T94T|RAMP3_ENST00000496212.1_Silent_p.T94T	p.T94T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN			3	320	+			94					Q7Z2Y1	Silent	SNP	ENST00000242249.4	37	c.282C>T	CCDS5503.1																																																																																				0.592	RAMP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251343.1	NM_005856		116	228	0	0	0	1	0	116	228					T	45222846	C	T	45222846	2	4	111	1	0	0	0	0	0	0	0	1	13073	639	23	1		1	RAMP3	7	45222846	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	417728	45222846	113915817	57	36523											
CUL1	8454	broad.mit.edu	37	chr7	148457512	148457512	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaatctcaatttttggCtgacacagagagattttata	7	6	1	4			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:148457512C>T	ENST00000325222.4	+	7	992	c.713C>T	c.(712-714)gCt>gTt	p.A238V	CUL1_ENST00000409469.1_Missense_Mutation_p.A238V|CUL1_ENST00000602748.1_Missense_Mutation_p.A238V	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	238					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)			CAATTTTTGGCTGACACAGAG	0.353																																						ENST00000325222.4																			0				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						c.(712-714)gCt>gTt		cullin 1							126	143	137					7																	148457512		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457512C>T	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.713C>T	7.37:g.148457512C>T	ENSP00000326804:p.Ala238Val					CUL1_ENST00000409469.1_Missense_Mutation_p.A238V|CUL1_ENST00000602748.1_Missense_Mutation_p.A238V	p.A238V	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	992	+	Melanoma(164;0.15)		238					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.713C>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442579	0.63067	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.30981	1.51;1.51	4.71	4.71	0.59529	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.051680	0.85682	D	0.000000	T	0.39384	0.1076	M	0.62016	1.91	0.80722	D	1	B	0.30870	0.298	B	0.37833	0.259	T	0.39057	-0.9632	10	0.56958	D	0.05	-3.402	16.9931	0.86359	0.0:1.0:0.0:0.0	.	238	Q13616	CUL1_HUMAN	V	238;238;196;165	ENSP00000387160:A238V;ENSP00000326804:A238V	ENSP00000326804:A238V	A	+	2	0	CUL1	148088445	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.452000	0.66638	2.307000	0.77673	0.484000	0.47621	GCT		0.353	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		6	616	0	0	0	1	0	6	616					T	148457512	C	T	148457512	3	4	111	1	0	0	0	0	1	0	0	0	4065	797	28	2	735	2	CUL1	7	148457512	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	103234666	148457512	10681151	58	36524											
LOXL2	4017	broad.mit.edu	37	chr8	23155589	23155589	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctggttgtttaagagcccGctgaagtgctcaaacttttt	10	8	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:23155589G>A	ENST00000389131.3	-	14	2661	c.2292C>T	c.(2290-2292)agC>agT	p.S764S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	764					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTAAGAGCCCGCTGAAGTGCT	0.532																																						ENST00000389131.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2290-2292)agC>agT		lysyl oxidase-like 2							82	78	79					8																	23155589		2203	4300	6503	SO:0001819	synonymous_variant	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23155589G>A	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2292C>T	8.37:g.23155589G>A							p.S764S	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	14	2661	-		Prostate(55;0.0453)|Breast(100;0.143)	764					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.2292C>T	CCDS34864.1																																																																																				0.532	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			61	118	0	0	0	1	0	61	118					A	23155589	G	A	23155589	2	1	111	1	0	0	0	0	0	0	0	1	8938	1078	38	1		1	LOXL2	8	23155589	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		23155589	123208433	59	36525											
SQLE	6713	broad.mit.edu	37	chr8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcttcttttgggagacGcatataatatgaggcatcca	10	7	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109	103	105					8																	126030321		1828	4076	5904	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126030321G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr					SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		409					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.1225G>A	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA		0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		5	435	0	0	0	1	0	5	435					A	126030321	G	A	126030321	3	1	111	1	0	0	0	0	1	0	0	0	15180	1087	38	1	1154	1	SQLE	8	126030321	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	102874732	126030321	20333701	60	36526											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		9	915	0	0	0	1	0	9	915					T	70871889	C	T	70871889	2	4	111	1	0	0	0	0	0	0	0	1	2721	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		70871889	70341542	61	36527											
OR13C3	138803	broad.mit.edu	37	chr9	107298219	107298219	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccaatcaggtcttgagacttCggtttcgcatacataaagaa	8	9	2	2	rs145221004	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													c|||	8	0.00159744	0.0	0.0	5008	,	,		20758	0.0		0.0	False		,,,				2504	0.0082				GBM(86;1248 1274 14222 15028 46219)	ENST00000374781.2																			0				endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						c.(874-876)ccG>ccA		olfactory receptor, family 13, subfamily C, member 3		C		0,4406		0,0,2203	142	134	137		876	-1.6	0.1	9	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR13C3	NM_001001961.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		292/348	107298219	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298219C>T		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.876G>A	9.37:g.107298219C>T							p.P292P	NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN			1	918	-			292					Q5VVG1|Q6IF52	Silent	SNP	ENST00000374781.2	37	c.876G>A	CCDS35089.1																																																																																				0.438	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2			162	279	0	0	0	1	0	162	279					T	107298219	C	T	107298219	2	4	111	1	0	0	0	0	0	0	0	1	10977	871	31	1		1	OR13C3	9	107298219	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	36426330	107298219	33915212	62	36528											
SUV39H2	79723	broad.mit.edu	37	chr10	14941644	14941644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgaattcacagtggatgCggctcgatacggcaatgtgt	13	7	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:14941644C>T	ENST00000354919.6	+	4	956	c.956C>T	c.(955-957)gCg>gTg	p.A319V	SUV39H2_ENST00000378325.3_Missense_Mutation_p.A139V|SUV39H2_ENST00000313519.5_Missense_Mutation_p.A259V|DCLRE1C_ENST00000378289.4_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	319	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACAGTGGATGCGGCTCGATAC	0.408																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(775-777)gCg>gTg		suppressor of variegation 3-9 homolog 2 (Drosophila)							176	152	160					10																	14941644		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14941644C>T	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"Chromatin-modifying enzymes / K-methyltransferases"	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.956C>T	10.37:g.14941644C>T	ENSP00000346997:p.Ala319Val					SUV39H2_ENST00000354919.6_Missense_Mutation_p.A319V|SUV39H2_ENST00000378325.3_Missense_Mutation_p.A139V|DCLRE1C_ENST00000378289.4_Intron	p.A259V	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN			3	1007	+			319			SET.		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.776C>T	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.625237|5.625237	0.96671|0.96671	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;D;D;D|.	0.93763|.	-3.28;-1.8;-3.28;-3.28|.	5.62|5.62	5.62|5.62	0.85841|0.85841	SET domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90985|0.90985	0.7165|0.7165	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79108|.	0.992;0.945|.	D|D	0.93938|0.93938	0.7220|0.7220	10|5	0.87932|.	D|.	0|.	.|.	19.0078|19.0078	0.92859|0.92859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	319;139|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	V|W	79;139;319;259|85	ENSP00000388968:A79V;ENSP00000367576:A139V;ENSP00000346997:A319V;ENSP00000319208:A259V|.	ENSP00000319208:A259V|.	A|R	+|+	2|1	0|2	SUV39H2|SUV39H2	14981650|14981650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.776000|7.776000	0.85560|0.85560	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GCG|CGG		0.408	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		5	583	0	0	0	1	0	5	583					T	14941644	C	T	14941644	3	4	111	1	0	0	0	0	1	0	0	0	15465	768	27	1	782	1	SUV39H2	10	14941644	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		14941644	120593103	63	36529											
RTKN2	219790	broad.mit.edu	37	chr10	63958148	63958149	+	Frame_Shift_Ins	INS	-	-	T													ctgcccatttgtctcttcaaINStttttttttgtattatatcc							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:63958148_63958149insT	ENST00000373789.3	-	12	1444_1445	c.1348_1349insA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.I471fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		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)					TGTCTCTTCAATTTTTTTTTGT	0.337																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)tgafs		rhotekin 2				11,4247		0,11,2118						4.1	1			63	5,8243		0,5,4119	no	frameshift	RTKN2	NM_145307.2		0,16,6237	A1A1,A1R,RR		0.0606,0.2583,0.1279				16,12490				SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958148_63958149insT	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.1349dupA	10.37:g.63958157_63958157dupT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs|RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs	p.*450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444_1445	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Ins	INS	ENST00000373789.3	37	c.1348_1349insA	CCDS7263.1																																																																																				0.337	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		11	307						11	307	---	---	---	---	T	63958149	-	T	63958148	7	5	111	1	0	1	1	0	0	0	0	0	13773	101	4	0	484	0	RTKN2	10	63958148	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	49016504	63958148	71576599	64	36530											
SORBS1	10580	broad.mit.edu	37	chr10	97096368	97096368	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcacttcctggaaaagcGctacccaggggcttgccggg	13	14	1	0	rs370839434		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97096368G>A	ENST00000361941.3	-	28	3575	c.3549C>T	c.(3547-3549)agC>agT	p.S1183S	SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000371247.2_Silent_p.S1183S|SORBS1_ENST00000347291.4_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGAAAAGCGCTACCCAGGG	0.617																																						ENST00000371247.2																			0				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						c.(3547-3549)agC>agT		sorbin and SH3 domain containing 1		G	,,,,,,	0,4406		0,0,2203	80	84	82		3549,3126,,,,,	5.6	1	10		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	1183/1293,1042/1152,,,,,	97096368	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096368G>A	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.3549C>T	10.37:g.97096368G>A						SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Silent_p.S1183S|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371241.1_Intron	p.S1183S			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	30	3738	-		Colorectal(252;0.0429)	1183						Silent	SNP	ENST00000361941.3	37	c.3549C>T	CCDS31255.1																																																																																				0.617	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			176	142	0	0	0	1	0	176	142					A	97096368	G	A	97096368	2	1	111	1	0	0	0	0	0	0	0	1	14977	1078	38	1		1	SORBS1	10	97096368	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	33138220	97096368	38438379	65	36531											
CC2D2B	387707	broad.mit.edu	37	chr10	97791640	97791640	+	Nonsense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	caattattgatgctgtttatCaaactggaattcactctgct	6	8	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97791640C>T	ENST00000344386.3	+	9	1008	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.Q361*|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|RP11-690P14.4_ENST00000475252.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	282										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTGTTTATCAAACTGGAAT	0.393																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(844-846)Caa>Taa		coiled-coil and C2 domain containing 2B							203	181	188					10																	97791640		1872	4119	5991	SO:0001587	stop_gained	387707							g.chr10:97791640C>T	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.844C>T	10.37:g.97791640C>T	ENSP00000343747:p.Gln282*					ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.Q361*	p.Q282*	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	9	1008	+		Colorectal(252;0.158)	282					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Nonsense_Mutation	SNP	ENST00000344386.3	37	c.844C>T	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	C	35	5.445563	0.96187	.	.	ENSG00000188649	ENST00000451649;ENST00000344386	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.2322	0.65901	0.1493:0.8507:0.0:0.0	.	.	.	.	X	361;282	.	ENSP00000343747:Q282X	Q	+	1	0	CC2D2B	97781630	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.245000	0.51407	2.873000	0.98535	0.563000	0.77884	CAA		0.393	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		7	426	0	0	0	1	0	7	426					T	97791640	C	T	97791640	4	4	111	1	0	0	0	0	0	1	0	0	2736	827	29	2	1119	2	CC2D2B	10	97791640	Nonsense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	695272	97791640	37743107	66	36532											
OR51F2	119694	broad.mit.edu	37	chr11	4843156	4843156	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgctctttgtcaagaggttgTccttctgcagttctatggtc	10	9	4	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4843156T>C	ENST00000322110.5	+	1	606	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGAGGTTGTCCTTCTGCAG	0.448																																						ENST00000322110.5																			0				breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33						c.(541-543)Tcc>Ccc		olfactory receptor, family 51, subfamily F, member 2							318	277	291					11																	4843156		2201	4298	6499	SO:0001583	missense	119694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4843156T>C	BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.541T>C	11.37:g.4843156T>C	ENSP00000323952:p.Ser181Pro					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.S181P	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	606	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	181					Q6IFI1	Missense_Mutation	SNP	ENST00000322110.5	37	c.541T>C	CCDS31361.1	.	.	.	.	.	.	.	.	.	.	T	2.880	-0.232112	0.05983	.	.	ENSG00000176925	ENST00000322110	T	0.00036	8.86	4.66	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.663319	0.12337	U	0.477833	T	0.00210	0.0006	L	0.35487	1.065	0.09310	N	1	D	0.69078	0.997	D	0.71656	0.974	T	0.32824	-0.9892	10	0.02654	T	1	.	5.3429	0.15994	0.4154:0.0:0.148:0.4366	.	181	Q8NH61	O51F2_HUMAN	P	181	ENSP00000323952:S181P	ENSP00000323952:S181P	S	+	1	0	OR51F2	4799732	0.000000	0.05858	0.977000	0.42913	0.614000	0.37383	-0.787000	0.04618	0.309000	0.22966	0.459000	0.35465	TCC		0.448	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753		9	528	0	0	0	1	0	9	528					C	4843156	T	C	4843156	3	2	111	1	0	0	0	0	1	0	0	0	11139	1667	58	4	543	4	OR51F2	11	4843156	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08		4843156	130163360	67	36533											
OR51G1	79324	broad.mit.edu	37	chr11	4945382	4945382	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cagctagcatgcccaagaaaTagtacatgggtccatggaga	11	9	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4945382T>A	ENST00000321961.2	-	1	255	c.188A>T	c.(187-189)tAt>tTt	p.Y63F	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	63						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)		GCCCAAGAAATAGTACATGGG	0.483																																						ENST00000321961.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(187-189)tAt>tTt		olfactory receptor, family 51, subfamily G, member 1							111	87	95					11																	4945382		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945382T>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.188A>T	11.37:g.4945382T>A	ENSP00000322546:p.Tyr63Phe					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.Y63F	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	255	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	63					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.188A>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.517143	0.44763	.	.	ENSG00000176879	ENST00000321961	T	0.01685	4.69	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35739	U	0.003015	T	0.01592	0.0051	N	0.25060	0.705	0.27676	N	0.946609	B	0.15719	0.014	B	0.15484	0.013	T	0.37934	-0.9684	10	0.66056	D	0.02	.	6.9793	0.24694	0.3172:0.0:0.0:0.6828	.	63	Q8NGK1	O51G1_HUMAN	F	63	ENSP00000322546:Y63F	ENSP00000322546:Y63F	Y	-	2	0	OR51G1	4901958	0.901000	0.30685	1.000000	0.80357	0.963000	0.63663	1.508000	0.35769	1.760000	0.52011	0.455000	0.32223	TAT		0.483	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		7	91	0	0	0	1	0	7	91					A	4945382	T	A	4945382	3	1	111	1	0	0	0	0	1	0	0	0	11140	1406	49	5	779	5	OR51G1	11	4945382	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	102226	4945382	130061134	68	36534											
OR52H1	390067	broad.mit.edu	37	chr11	5565922	5565922	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aaacatgatgtggaaggtgcGagagacattgtgtccaaagc	13	6	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:5565922G>A	ENST00000322653.4	-	1	857	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAGGTGCGAGAGACATTG	0.483																																						ENST00000322653.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(832-834)Cgc>Tgc		olfactory receptor, family 52, subfamily H, member 1							213	197	203					11																	5565922		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5565922G>A	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.832C>T	11.37:g.5565922G>A	ENSP00000326259:p.Arg278Cys					HBG2_ENST00000380259.2_Intron	p.R278C	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	857	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	278					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.832C>T	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	g	11.32	1.604765	0.28623	.	.	ENSG00000181616	ENST00000322653	T	0.00158	8.65	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.697402	0.13692	N	0.369445	T	0.00241	0.0007	M	0.76938	2.355	0.09310	N	1	B	0.22800	0.075	B	0.24269	0.052	T	0.32534	-0.9903	10	0.49607	T	0.09	.	12.8057	0.57612	0.08:0.0:0.9199:0.0	.	278	Q8NGJ2	O52H1_HUMAN	C	278	ENSP00000326259:R278C	ENSP00000326259:R278C	R	-	1	0	OR52H1	5522498	0.000000	0.05858	0.177000	0.23020	0.738000	0.42128	0.114000	0.15520	1.209000	0.43321	-0.127000	0.14921	CGC		0.483	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		4	173	0	0	0	1	0	4	173					A	5565922	G	A	5565922	3	1	111	1	0	0	0	0	1	0	0	0	11161	1058	37	1	133	1	OR52H1	11	5565922	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	620540	5565922	129440594	69	36535											
OR10A5	144124	broad.mit.edu	37	chr11	6867677	6867677	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtctctcttttctatatatCttctagcctcacctacttct	2	13	7	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:6867677C>G	ENST00000299454.4	+	1	795	c.764C>G	c.(763-765)tCt>tGt	p.S255C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	255					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)		TTCTATATATCTTCTAGCCTC	0.433																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(763-765)tCt>tGt		olfactory receptor, family 10, subfamily A, member 5							193	188	189					11																	6867677		2201	4296	6497	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867677C>G	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.764C>G	11.37:g.6867677C>G	ENSP00000299454:p.Ser255Cys					OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C	p.S255C			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	795	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	255					O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.764C>G	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	7.000	0.554679	0.13436	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00183	8.6;8.6	3.59	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00300	0.0009	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.70016	0.967	T	0.68834	-0.5304	10	0.41790	T	0.15	.	13.509	0.61499	0.0:1.0:0.0:0.0	.	255	Q9H207	O10A5_HUMAN	C	255;259	ENSP00000299454:S255C;ENSP00000369159:S259C	ENSP00000299454:S255C	S	+	2	0	OR10A5	6824253	0.000000	0.05858	0.221000	0.23827	0.007000	0.05969	0.600000	0.24104	2.269000	0.75478	0.591000	0.81541	TCT		0.433	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		7	424	0	0	0	1	0	7	424					G	6867677	C	G	6867677	3	3	111	1	0	0	0	0	1	0	0	0	10935	913	32	5	766	5	OR10A5	11	6867677	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	1301755	6867677	128138839	70	36536											
KBTBD4	55709	broad.mit.edu	37	chr11	47595092	47595094	+	In_Frame_Del	DEL	CGA	CGA	-													gggtgtgctggagccggtccCgaggcaaaggagcacaccac							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:47595092_47595094delCGA	ENST00000526005.1	-	4	1098_1100	c.945_947delTCG	c.(943-948)cctcgg>ccg	p.R316del	KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del|KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	316										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						GAGCCGGTCCCGAGGCAAAGGAG	0.571																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1018-1023)ccg>cc		kelch repeat and BTB (POZ) domain containing 4																																				SO:0001651	inframe_deletion	55709							g.chr11:47595092_47595094delCGA	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.945_947delTCG	11.37:g.47595092_47595094delCGA	ENSP00000433340:p.Arg316del					KBTBD4_ENST00000526005.1_In_Frame_Del_p.PR315del|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_In_Frame_Del_p.PR331del|KBTBD4_ENST00000395288.2_In_Frame_Del_p.PR315del	p.PR340del			Q9NVX7	KBTB4_HUMAN			3	1734_1736	-			315					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	In_Frame_Del	DEL	ENST00000526005.1	37	c.1020_1022delTCG	CCDS7940.1																																																																																				0.571	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		63	192						63	192	---	---	---	---	-	47595094	CGA	-	47595092	7	5	111	1	0	1	0	1	0	0	0	0	8025	652	23	0	613	0	KBTBD4	11	47595092	In_Frame_Del	DEL	CGA	TCGA-S4-A8RO-01A-12D-A377-08	40727415	47595092	87411424	71	36537											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200423	67200423	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaacacccttcctcagGccacatcaaactgaccgact	4	18	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:67200423G>A	ENST00000312629.5	+	8	662	c.617G>A	c.(616-618)gGc>gAc	p.G206D	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTTCCTCAGGCCACATCAAA	0.612																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.e8-1		ribosomal protein S6 kinase, 70kDa, polypeptide 2							41	45	43					11																	67200423		2050	4199	6249	SO:0001630	splice_region_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67200423G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.617-1G>A	11.37:g.67200423G>A						AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000539188.1_3'UTR|RPS6KB2_ENST00000524814.1_3'UTR	p.G206_splice	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		8	662	+			206			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Splice_Site	SNP	ENST00000312629.5	37	c.616_splice	CCDS41677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.909408|2.909408	0.52439|0.52439	.|.	.|.	ENSG00000175634|ENSG00000175634	ENST00000524814|ENST00000312629	.|T	.|0.31510	.|1.49	4.76|4.76	4.76|4.76	0.60689|0.60689	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58308|0.58308	0.2113|0.2113	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.61778|0.61778	-0.6993|-0.6993	5|9	.|.	.|.	.|.	.|.	16.6904|16.6904	0.85320|0.85320	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|206;206	.|Q9BRS0;Q9UBS0	.|.;KS6B2_HUMAN	T|D	157|206	.|ENSP00000308413:G206D	.|.	A|G	+|+	1|2	0|0	RPS6KB2|RPS6KB2	66956999|66956999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	9.087000|9.087000	0.94110|0.94110	2.461000|2.461000	0.83175|0.83175	0.561000|0.561000	0.74099|0.74099	GCC|GGC		0.612	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952	Missense_Mutation	61	175	0	0	0	1	0	61	175					A	67200423	G	A	67200423	5	1	111	1	0	0	0	0	0	0	1	0	13707	1217	42	2	647	2	RPS6KB2	11	67200423	Splice_Site	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	19605331	67200423	67806093	72	36538											
NOX4	50507	broad.mit.edu	37	chr11	89088203	89088203	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggaggcagtagtaaatctcGaaatcgttctgtcaaaagaa	10	6	3	1	rs374112961		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:89088203G>A	ENST00000263317.4	-	13	1382	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000535633.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	382	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				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)	p.R382*(1)		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)				AGTAAATCTCGAAATCGTTCT	0.328																																						ENST00000535633.1																			1	Substitution - Nonsense(1)	p.R382*(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(1072-1074)Cga>Tga		NADPH oxidase 4		G	stop/ARG,stop/ARG,stop/ARG	0,4402		0,0,2201	50	49	49		1144,1072,1144	5.3	1	11		49	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained,stop-gained	NOX4	NM_001143836.1,NM_001143837.1,NM_016931.3	,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,	382/539,358/555,382/579	89088203	1,12999	2201	4299	6500	SO:0001587	stop_gained	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89088203G>A	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.1144C>T	11.37:g.89088203G>A	ENSP00000263317:p.Arg382*					NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.R382*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*	p.R358*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN			13	1382	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	382			FAD-binding FR-type.|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Nonsense_Mutation	SNP	ENST00000263317.4	37	c.1072C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124446	0.94429	0.0	1.16E-4	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	.	.	.	5.31	5.31	0.75309	.	0.325791	0.27060	N	0.021133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9276	14.4891	0.67639	0.0:0.0:1.0:0.0	.	.	.	.	X	358;358;358;382;382;358;358;358;216;357;403;75;75	.	.	R	-	1	2	NOX4	88727851	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.228000	0.65310	2.479000	0.83701	0.563000	0.77884	CGA		0.328	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		126	85	0	0	0	1	0	126	85					A	89088203	G	A	89088203	4	1	111	1	0	0	0	0	0	1	0	0	10600	1066	37	1	616	1	NOX4	11	89088203	Nonsense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	21887780	89088203	45918313	73	36539											
ANGPTL5	253935	broad.mit.edu	37	chr11	101773403	101773403	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attatgtataaaccactcggTgttttggtgacagagccaat	9	7	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:101773403T>C	ENST00000334289.3	-	6	1084	c.489A>G	c.(487-489)acA>acG	p.T163T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	163	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACTCGGTGTTTTGGTGA	0.353																																						ENST00000334289.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(487-489)acA>acG		angiopoietin-like 5							122	127	125					11																	101773403		2203	4299	6502	SO:0001819	synonymous_variant	253935				signal transduction	extracellular space	receptor binding	g.chr11:101773403T>C	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.489A>G	11.37:g.101773403T>C							p.T163T	NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	6	1084	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	163			Fibrinogen C-terminal.		A8K658|Q86VR9	Silent	SNP	ENST00000334289.3	37	c.489A>G	CCDS8312.1																																																																																				0.353	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127		111	228	0	0	0	1	0	111	228					C	101773403	T	C	101773403	2	2	111	1	0	0	0	0	0	0	0	1	617	1683	59	4		4	ANGPTL5	11	101773403	Silent	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	12685200	101773403	33233113	74	36540											
PKNOX2	63876	broad.mit.edu	37	chr11	125299995	125299995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaactccatcgctgcggggGtgctgcagcagcagggcggt	16	13	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:125299995G>A	ENST00000298282.9	+	12	1421	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	384					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGCTGCGGGGGTGCTGCAGCA	0.622																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1150-1152)Gtg>Atg		PBX/knotted 1 homeobox 2							52	59	57					11																	125299995		1948	4133	6081	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125299995G>A	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1150G>A	11.37:g.125299995G>A	ENSP00000298282:p.Val384Met					PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M	p.V384M	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	12	1421	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	384					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1150G>A	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014071	0.75161	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85258	-1.95;-1.95;-1.96;-1.93	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.90328	0.6974	L	0.53249	1.67	0.80722	D	1	D;D;D	0.71674	0.998;0.989;0.978	D;P;P	0.70487	0.969;0.795;0.496	D	0.90201	0.4257	10	0.46703	T	0.11	-13.6476	18.252	0.90006	0.0:0.0:1.0:0.0	.	320;355;384	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	M	355;355;384;320	ENSP00000434732:V355M;ENSP00000433971:V355M;ENSP00000298282:V384M;ENSP00000441470:V320M	ENSP00000298282:V384M	V	+	1	0	PKNOX2	124805205	1.000000	0.71417	0.995000	0.50966	0.606000	0.37113	9.809000	0.99208	2.399000	0.81585	0.462000	0.41574	GTG		0.622	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			5	324	0	0	0	1	0	5	324					A	125299995	G	A	125299995	3	1	111	1	0	0	0	0	1	0	0	0	12025	1261	44	2	1184	2	PKNOX2	11	125299995	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	23526592	125299995	9706521	75	36541											
B4GALNT3	283358	broad.mit.edu	37	chr12	653515	653515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgcagttccggggccGtgccaacctgcatgtgtttg	13	14	0	0	rs141528374		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:653515G>A	ENST00000266383.5	+	4	375	c.362G>A	c.(361-363)cGt>cAt	p.R121H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	121					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCCGGGGCCGTGCCAACCTG	0.627																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(361-363)cGt>cAt		beta-1,4-N-acetyl-galactosaminyl transferase 3		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	112	95	101		362	1	0.9	12	dbSNP_134	101	0,8600		0,0,4300	no	missense	B4GALNT3	NM_173593.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	121/999	653515	1,13005	2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:653515G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.362G>A	12.37:g.653515G>A	ENSP00000266383:p.Arg121His					B4GALNT3_ENST00000544638.1_3'UTR	p.R121H	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		4	375	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		121					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.362G>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064962	0.36470	2.27E-4	0.0	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.31510	3.51;1.49	4.73	1.01	0.19927	.	0.563844	0.18883	N	0.128522	T	0.13586	0.0329	N	0.08118	0	0.29262	N	0.871299	B;B	0.15719	0.014;0.004	B;B	0.08055	0.003;0.002	T	0.12941	-1.0528	10	0.39692	T	0.17	-3.8814	7.2086	0.25921	0.6513:0.0:0.3487:0.0	.	23;121	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	H	121;23	ENSP00000266383:R121H;ENSP00000322953:R23H	ENSP00000266383:R121H	R	+	2	0	B4GALNT3	523776	0.004000	0.15560	0.863000	0.33907	0.836000	0.47400	0.174000	0.16743	0.138000	0.18790	0.491000	0.48974	CGT		0.627	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		5	313	0	0	0	1	0	5	313					A	653515	G	A	653515	3	1	111	1	0	0	0	0	1	0	0	0	1269	1145	40	1	376	1	B4GALNT3	12	653515	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		653515	133198380	76	36542											
KCNA5	3741	broad.mit.edu	37	chr12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaggagaagcccctgccccGcaacgagttccagcgccagg	13	15	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:5153999G>A	ENST00000252321.3	+	1	915	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229					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)	CCCCTGCCCCGCAACGAGTTC	0.607																																						ENST00000252321.3																			0				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						c.(685-687)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 5							68	77	74					12																	5153999		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153999G>A	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.686G>A	12.37:g.5153999G>A	ENSP00000252321:p.Arg229His						p.R229H	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	915	+			229					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.686G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016133	0.35606	.	.	ENSG00000130037	ENST00000252321	T	0.65549	-0.16	4.77	4.77	0.60923	.	1.183500	0.06286	U	0.698225	T	0.56906	0.2017	L	0.35644	1.08	0.29339	N	0.866187	B	0.13145	0.007	B	0.12837	0.008	T	0.46938	-0.9155	10	0.52906	T	0.07	.	12.4671	0.55764	0.0832:0.0:0.9168:0.0	.	229	P22460	KCNA5_HUMAN	H	229	ENSP00000252321:R229H	ENSP00000252321:R229H	R	+	2	0	KCNA5	5024260	0.000000	0.05858	0.996000	0.52242	0.991000	0.79684	-0.403000	0.07214	2.478000	0.83669	0.561000	0.74099	CGC		0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		136	201	0	0	0	1	0	136	201					A	5153999	G	A	5153999	3	1	111	1	0	0	0	0	1	0	0	0	8036	1087	38	1	688	1	KCNA5	12	5153999	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	4500484	5153999	128697896	77	36543											
NTF3	4908	broad.mit.edu	37	chr12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C													gagagccggagcggggagggINScccgccaagtcagcattcca					rs370431415		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:5603608_5603609insC	ENST00000331010.6	+	1	311_312	c.228_229insC	c.(229-231)cccfs	p.P77fs	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Frame_Shift_Ins_p.P90fs	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(265-270)ggccgcfs		neurotrophin 3																																				SO:0001589	frameshift_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603608_5603609insC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"Endogenous ligands"	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.231dupC	12.37:g.5603611_5603611dupC	ENSP00000328738:p.Pro77fs					NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs	p.R90fs	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	479_480	+			77					B7Z1T5|Q6FH50	Frame_Shift_Ins	INS	ENST00000331010.6	37	c.267_268insC	CCDS8538.1																																																																																				0.579	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			48	303						48	303	---	---	---	---	C	5603609	-	C	5603608	7	5	111	1	0	1	1	0	0	0	0	0	10738	1190	42	0	273	0	NTF3	12	5603608	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	449609	5603608	128248287	78	36544											
KRAS	3845	broad.mit.edu	37	chr12	25362826	25362826	+	3'UTR	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctcgaactaatgtaTagaaggcatcatcaacaccc	6	10	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25362826T>C	ENST00000256078.4	-	0	657				KRAS_ENST00000311936.3_Missense_Mutation_p.Y157C|KRAS_ENST00000557334.1_Missense_Mutation_p.Y44C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			AACTAATGTATAGAAGGCATC	0.284		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	0				NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(469-471)tAt>tGt		Kirsten rat sarcoma viral oncogene homolog							58	57	57					12																	25362826		2201	4287	6488	SO:0001624	3_prime_UTR_variant	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25362826T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.*24A>G	12.37:g.25362826T>C		TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_3'UTR|KRAS_ENST00000557334.1_Missense_Mutation_p.Y44C	p.Y157C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		5	661	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		157					A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.470A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662479	0.67700	.	.	ENSG00000133703	ENST00000311936;ENST00000557334	T;T	0.80033	-1.33;-1.17	5.43	5.43	0.79202	.	.	.	.	.	D	0.89518	0.6738	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.90991	0.4835	8	0.87932	D	0	.	14.6577	0.68847	0.0:0.0:0.0:1.0	.	157	P01116-2	.	C	157;44	ENSP00000308495:Y157C;ENSP00000452512:Y44C	ENSP00000308495:Y157C	Y	-	2	0	KRAS	25254093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.066000	0.61787	0.482000	0.46254	TAT		0.284	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		165	276	0	0	0	1	0	165	276					C	25362826	T	C	25362826	1	2	111	0	1	0	0	0	0	0	0	0	8468	1406	49	4		4	KRAS	12	25362826	3'UTR	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	19759218	25362826	108489069	79	36545											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		79	176	0	0	0	1	0	79	176					T	25398284	C	T	25398284	3	4	111	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	35458	25398284	108453611	80	36546											
SYT10	341359	broad.mit.edu	37	chr12	33538128	33538128	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gatgagccagtaatatccatCgccttcagatttctgcactt	7	11	2	2	rs369118657		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:33538128C>T	ENST00000228567.3	-	4	1472	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	SYT10_ENST00000535526.1_Silent_p.A211A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	392	C2 2. {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)					TAATATCCATCGCCTTCAGAT	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		13748	0.001		0.0	False		,,,				2504	0.0					ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1174-1176)gcG>gcA		synaptotagmin X							162	136	145					12																	33538128		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33538128C>T	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.1176G>A	12.37:g.33538128C>T						SYT10_ENST00000535526.1_Silent_p.A211A	p.A392A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			4	1472	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		392			C2 2.		Q495U2	Silent	SNP	ENST00000228567.3	37	c.1176G>A	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		114	277	0	0	0	1	0	114	277					T	33538128	C	T	33538128	2	4	111	1	0	0	0	0	0	0	0	1	15518	871	31	1		1	SYT10	12	33538128	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	8139844	33538128	100313767	81	36547											
PDZRN4	29951	broad.mit.edu	37	chr12	41966704	41966704	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgcatgatggaggattccGgaattataacaccagcatag	10	7	0	1	rs200771912	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:41966704G>A	ENST00000402685.2	+	10	2131	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R448Q	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	708							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)				GGAGGATTCCGGAATTATAAC	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		22541	0.001		0.0	False		,,,				2504	0.001					ENST00000298919.7																			0				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						c.(1342-1344)cGg>cAg		PDZ domain containing ring finger 4							98	100	99					12																	41966704		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966704G>A	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.2123G>A	12.37:g.41966704G>A	ENSP00000384197:p.Arg708Gln					PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R708Q	p.R448Q			Q6ZMN7	PZRN4_HUMAN			10	1731	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	708			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1343G>A	CCDS53777.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.61	1.398179	0.25205	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.72505	-0.66;3.83;3.83	4.32	3.42	0.39159	.	0.094359	0.43416	D	0.000561	T	0.65565	0.2703	M	0.76838	2.35	0.39920	D	0.974143	B;B;B	0.31503	0.114;0.326;0.043	B;B;B	0.24269	0.003;0.052;0.014	T	0.64892	-0.6300	10	0.34782	T	0.22	-7.5442	9.2356	0.37464	0.0828:0.1469:0.7702:0.0	.	708;448;450	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	Q	708;450;448	ENSP00000384197:R708Q;ENSP00000439990:R450Q;ENSP00000298919:R448Q	ENSP00000298919:R448Q	R	+	2	0	PDZRN4	40252971	1.000000	0.71417	0.981000	0.43875	0.762000	0.43233	2.333000	0.43912	1.124000	0.41980	0.650000	0.86243	CGG		0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		70	197	0	0	0	1	0	70	197					A	41966704	G	A	41966704	3	1	111	1	0	0	0	0	1	0	0	0	11752	1116	39	1	2234	1	PDZRN4	12	41966704	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	8428576	41966704	91885191	82	36548											
KRT1	3848	broad.mit.edu	37	chr12	53069133	53069133	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagagctgccgccgccgccGcctccagagccacctctgta	10	20	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:53069133G>A	ENST00000252244.3	-	9	1837	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	593	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)	p.G593G(1)		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						cgccgccgccgcctccagagc	0.721																																						ENST00000252244.3																			1	Substitution - coding silent(1)	p.G593G(1)	prostate(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1777-1779)ggC>ggT		keratin 1																																				SO:0001819	synonymous_variant	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069133G>A	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.1779C>T	12.37:g.53069133G>A							p.G593G	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1837	-			593			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	ENST00000252244.3	37	c.1779C>T	CCDS8836.1																																																																																				0.721	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		55	88	0	0	0	1	0	55	88					A	53069133	G	A	53069133	2	1	111	1	0	0	0	0	0	0	0	1	8477	1074	38	1		1	KRT1	12	53069133	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	11102429	53069133	80782762	83	36549											
ATP2B1	490	broad.mit.edu	37	chr12	90036041	90036041	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgcttcccatactaaTtgaagaaaggtttttggctt	8	6	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:90036041T>A	ENST00000428670.3	-	3	756	c.300A>T	c.(298-300)caA>caT	p.Q100H	ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	100					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						CCCATACTAATTGAAGAAAGG	0.343																																						ENST00000428670.3																			0				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						c.(298-300)caA>caT		ATPase, Ca++ transporting, plasma membrane 1							198	232	221					12																	90036041		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90036041T>A	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.300A>T	12.37:g.90036041T>A	ENSP00000392043:p.Gln100His					ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H	p.Q100H			P20020	AT2B1_HUMAN			3	756	-			100					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.300A>T	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237947	0.79800	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.76	-5.69	0.02428	.	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.79805	2.47	0.53005	D	0.99996	D;P	0.63880	0.993;0.5	P;P	0.60682	0.878;0.55	D	0.84356	0.0535	9	.	.	.	-20.2557	15.3162	0.74081	0.0:0.6036:0.0:0.3964	.	100;100	P20020-3;P20020-2	.;.	H	100	ENSP00000261173:Q100H;ENSP00000343599:Q100H;ENSP00000352054:Q100H;ENSP00000392043:Q100H	.	Q	-	3	2	ATP2B1	88560172	0.015000	0.18098	0.906000	0.35671	0.986000	0.74619	-0.835000	0.04386	-0.979000	0.03529	0.379000	0.24179	CAA		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		447	823	0	0	0	1	0	447	823					A	90036041	T	A	90036041	3	1	111	1	0	0	0	0	1	0	0	0	1140	1490	52	5	3596	5	ATP2B1	12	90036041	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	36966908	90036041	43815854	84	36550											
DNAH10	196385	broad.mit.edu	37	chr12	124317833	124317833	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcagatttgtggggcCttttctgcaaactgttcaca	11	8	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:124317833C>A	ENST00000409039.3	+	26	4389	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1455	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)		TTTGTGGGGCCTTTTCTGCAA	0.433																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(4363-4365)cCt>cAt		dynein, axonemal, heavy chain 10							65	63	63					12																	124317833		1875	4106	5981	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124317833C>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4364C>A	12.37:g.124317833C>A	ENSP00000386770:p.Pro1455His						p.P1455H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	26	4389	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1455			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.4364C>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980145	0.92982	.	.	ENSG00000197653	ENST00000409039	T	0.62105	0.05	5.83	5.83	0.93111	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	U	0.000001	T	0.80742	0.4681	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78600	-0.2141	10	0.40728	T	0.16	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	1455	Q8IVF4	DYH10_HUMAN	H	1455	ENSP00000386770:P1455H	ENSP00000386770:P1455H	P	+	2	0	DNAH10	122883786	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.756000	0.94617	0.655000	0.94253	CCT		0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			30	79	1	0	3.73148e-12	1	3.99228e-12	30	79					A	124317833	C	A	124317833	3	1	111	1	0	0	0	0	1	0	0	0	4614	681	24	3	4466	3	DNAH10	12	124317833	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	34281792	124317833	9534062	85	36551											
TUBA3C	7278	broad.mit.edu	37	chr13	19751734	19751734	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaagccctgcagtcccGtgcacagatccgcctgaggg	14	13	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:19751734G>A	ENST00000400113.3	-	4	493	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	130					'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)		CTGCAGTCCCGTGCACAGATC	0.582																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(388-390)aCg>aTg		tubulin, alpha 3c							50	48	48					13																	19751734		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751734G>A	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.389C>T	13.37:g.19751734G>A	ENSP00000382982:p.Thr130Met						p.T130M	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	493	-		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)	130					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.389C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.895	1.205228	0.22205	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68624	-0.34	1.19	1.19	0.21007	.	0.000000	0.48286	U	0.000184	T	0.70439	0.3224	.	.	.	0.40500	D	0.980633	.	.	.	.	.	.	T	0.72763	-0.4195	7	0.87932	D	0	.	8.3041	0.32032	0.0:0.0:1.0:0.0	.	.	.	.	M	130	ENSP00000382982:T130M	ENSP00000354037:T130M	T	-	2	0	TUBA3C	18649734	1.000000	0.71417	0.920000	0.36463	0.408000	0.30992	4.910000	0.63321	0.966000	0.38159	0.162000	0.16502	ACG		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		61	103	0	0	0	1	0	61	103					A	19751734	G	A	19751734	3	1	111	1	0	0	0	0	1	0	0	0	16800	1145	40	1	971	1	TUBA3C	13	19751734	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		19751734	95418144	86	36552											
PABPC3	5042	broad.mit.edu	37	chr13	25671262	25671262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggtattgatgatgaacGtctccggaaagcgttttctc	11	7	2	4	rs554723791		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:25671262G>A	ENST00000281589.3	+	1	963	c.926G>A	c.(925-927)cGt>cAt	p.R309H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	309	RRM 4. {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)		GATGATGAACGTCTCCGGAAA	0.408													g|||	1	0.000199681	0.0	0.0	5008	,	,		22579	0.0		0.0	False		,,,				2504	0.001					ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(925-927)cGt>cAt		poly(A) binding protein, cytoplasmic 3							219	217	218					13																	25671262		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671262G>A	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.926G>A	13.37:g.25671262G>A	ENSP00000281589:p.Arg309His						p.R309H	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	963	+		Lung SC(185;0.0225)|Breast(139;0.0602)	309			RRM 4.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.926G>A	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956849	0.18507	.	.	ENSG00000151846	ENST00000281589	T	0.15952	2.38	0.875	-0.438	0.12268	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.135449	0.32473	N	0.006058	T	0.07007	0.0178	N	0.10685	0.025	0.50632	D	0.999884	P	0.43094	0.799	B	0.38985	0.287	T	0.30880	-0.9963	10	0.62326	D	0.03	.	6.1527	0.20320	0.0:0.3209:0.679:0.0	.	309	Q9H361	PABP3_HUMAN	H	309	ENSP00000281589:R309H	ENSP00000281589:R309H	R	+	2	0	PABPC3	24569262	1.000000	0.71417	0.851000	0.33527	0.226000	0.24999	3.068000	0.50018	-0.161000	0.10983	0.313000	0.20887	CGT		0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		378	737	0	0	0	1	0	378	737					A	25671262	G	A	25671262	3	1	111	1	0	0	0	0	1	0	0	0	11407	1145	40	1	928	1	PABPC3	13	25671262	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	5919528	25671262	89498616	87	36553											
AKAP11	11215	broad.mit.edu	37	chr13	42875532	42875532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtggtgcatacgataGtaaatgaaactttagagtca	10	6	1	2	rs201177301	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:42875532G>T	ENST00000025301.2	+	8	2825	c.2650G>T	c.(2650-2652)Gta>Tta	p.V884L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	884					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)		GCATACGATAGTAAATGAAAC	0.338																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(2650-2652)Gta>Tta		A kinase (PRKA) anchor protein 11							30	30	30					13																	42875532		2200	4296	6496	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42875532G>T	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.2650G>T	13.37:g.42875532G>T	ENSP00000025301:p.Val884Leu						p.V884L	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2825	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	884					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.2650G>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.838969	0.51057	.	.	ENSG00000023516	ENST00000025301	T	0.22945	1.93	6.03	5.16	0.70880	.	0.158160	0.42294	N	0.000726	T	0.28001	0.0690	M	0.69823	2.125	0.46849	D	0.999229	B	0.27997	0.197	B	0.30716	0.119	T	0.05402	-1.0887	10	0.18276	T	0.48	.	10.464	0.44596	0.0689:0.1349:0.7962:0.0	.	884	Q9UKA4	AKA11_HUMAN	L	884	ENSP00000025301:V884L	ENSP00000025301:V884L	V	+	1	0	AKAP11	41773532	1.000000	0.71417	0.997000	0.53966	0.452000	0.32318	5.995000	0.70631	1.497000	0.48584	0.655000	0.94253	GTA		0.338	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		6	156	1	0	4.096e-09	1	4.29002e-09	6	156					T	42875532	G	T	42875532	3	4	111	1	0	0	0	0	1	0	0	0	447	1029	36	3	2672	3	AKAP11	13	42875532	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	17204270	42875532	72294346	88	36554											
KLF5	688	broad.mit.edu	37	chr13	73636195	73636195	+	Frame_Shift_Del	DEL	C	C	-													gagaactggcctctacaaatCccagagaccgtgcgtaacac							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:73636195delC	ENST00000377687.4	+	2	994	c.458delC	c.(457-459)tccfs	p.S153fs	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Del_p.S62fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	153					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTCTACAAATCCCAGAGACCG	0.532																																						ENST00000377687.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(457-459)tcfs		Kruppel-like factor 5 (intestinal)							155	131	139					13																	73636195		2203	4300	6503	SO:0001589	frameshift_variant	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636195delC	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.458delC	13.37:g.73636195delC	ENSP00000366915:p.Ser153fs					KLF5_ENST00000539231.1_Frame_Shift_Del_p.S62fs|KLF5_ENST00000477333.1_3'UTR	p.S153fs	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	994	+		Prostate(6;0.00187)|Breast(118;0.0735)	153					L0R3U5|L0R4T9|Q9UHP8	Frame_Shift_Del	DEL	ENST00000377687.4	37	c.458delC	CCDS9448.1																																																																																				0.532	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1			137	289						137	289	---	---	---	---	-	73636195	C	-	73636195	7	5	111	1	0	1	0	1	0	0	0	0	8379	855	30	0	464	0	KLF5	13	73636195	Frame_Shift_Del	DEL	C	TCGA-S4-A8RO-01A-12D-A377-08	30760663	73636195	41533683	89	36555											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-													cagtgttgcaggcagcagcaGctgctgctgctgctgcttct					rs571846793		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"chromosome 14 open reading frame 92", "KIAA0737"	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		10	933						10	933	---	---	---	---	-	21961062	GCT	-	21961060	7	5	111	1	0	1	0	1	0	0	0	0	16433	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-S4-A8RO-01A-12D-A377-08		21961060	85388480	90	36556											
ACIN1	22985	broad.mit.edu	37	chr14	23531399	23531399	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcttgctcggcatagtcaGcacaaaggaatttgggattg	11	8	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:23531399G>A	ENST00000262710.1	-	16	3578	c.3251C>T	c.(3250-3252)gCt>gTt	p.A1084V	ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1084					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATAGTCAGCACAAAGGAA	0.537																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3250-3252)gCt>gTt		apoptotic chromatin condensation inducer 1							108	112	111					14																	23531399		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23531399G>A	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.3251C>T	14.37:g.23531399G>A	ENSP00000262710:p.Ala1084Val					ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V	p.A1084V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	16	3578	-	all_cancers(95;1.36e-05)		1084					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3251C>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177752	0.21787	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.19	5.19	0.71726	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.38720	N	0.001589	T	0.04407	0.0121	N	0.00289	-1.7	0.44388	D	0.997291	B;B;B;B;B	0.27013	0.137;0.166;0.084;0.111;0.054	B;B;B;B;B	0.35859	0.135;0.212;0.064;0.016;0.011	T	0.41610	-0.9499	10	0.02654	T	1	-9.2231	11.4006	0.49868	0.0848:0.0:0.9152:0.0	.	1071;1084;1044;357;326	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	V	325;357;326;1084;1044;326;1071	ENSP00000451138:A325V;ENSP00000345541:A357V;ENSP00000350073:A326V;ENSP00000262710:A1084V;ENSP00000405677:A1044V;ENSP00000380502:A326V;ENSP00000451328:A1071V	ENSP00000262710:A1084V	A	-	2	0	ACIN1	22601239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.835000	0.62781	2.578000	0.87016	0.563000	0.77884	GCT		0.537	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		5	601	0	0	0	1	0	5	601					A	23531399	G	A	23531399	3	1	111	1	0	0	0	0	1	0	0	0	142	971	34	2	790	2	ACIN1	14	23531399	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	1570339	23531399	83818141	91	36557											
RNF31	55072	broad.mit.edu	37	chr14	24624885	24624885	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaccagaccttctgtgTgcgctgcaagcgccaggtga	13	12	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:24624885T>C	ENST00000324103.6	+	14	2797	c.2477T>C	c.(2476-2478)gTg>gCg	p.V826A	RNF31_ENST00000559275.1_Missense_Mutation_p.V675A|RNF31_ENST00000382687.3_Missense_Mutation_p.V675A|RNA5SP383_ENST00000362934.1_RNA|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.V301A	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	826					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCTTCTGTGTGCGCTGCAAG	0.507																																						ENST00000558468.1																			0											c.(901-903)gTg>gCg									106	105	105					14																	24624885		1993	4179	6172	SO:0001583	missense	0							g.chr14:24624885T>C	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2477T>C	14.37:g.24624885T>C	ENSP00000315112:p.Val826Ala					RNF31_ENST00000559275.1_Missense_Mutation_p.V675A|RNF31_ENST00000382687.3_Missense_Mutation_p.V675A|RNF31_ENST00000324103.6_Missense_Mutation_p.V826A	p.V301A							6	902	+								A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.902T>C	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.352802	0.24512	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.63096	-0.02;-0.02	5.2	5.2	0.72013	Zinc finger, C6HC-type (2);	0.069879	0.56097	D	0.000022	T	0.35537	0.0935	N	0.00152	-1.975	0.35483	D	0.798341	B;D;D	0.56746	0.081;0.977;0.971	B;P;P	0.58820	0.042;0.846;0.761	T	0.55010	-0.8207	10	0.16420	T	0.52	-16.726	10.3507	0.43934	0.0:0.0:0.1647:0.8353	.	585;826;675	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	A	268;826;675	ENSP00000315112:V826A;ENSP00000372134:V675A	ENSP00000315112:V826A	V	+	2	0	RNF31	23694725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.469000	0.53093	2.185000	0.69588	0.460000	0.39030	GTG		0.507	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		19	681	0	0	0	1	0	19	681					C	24624885	T	C	24624885	3	2	111	1	0	0	0	0	1	0	0	0	13537	1696	59	4	2531	4	RNF31	14	24624885	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	1093486	24624885	82724655	92	36558											
ZFYVE26	23503	broad.mit.edu	37	chr14	68238816	68238816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatactctcagtctcatccGgtacccactggtgcctggca	9	14	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68238816G>A	ENST00000347230.4	-	28	5570	c.5432C>T	c.(5431-5433)cCg>cTg	p.P1811L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1811					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)		AGTCTCATCCGGTACCCACTG	0.562																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(5431-5433)cCg>cTg		zinc finger, FYVE domain containing 26							42	39	40					14																	68238816		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68238816G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5432C>T	14.37:g.68238816G>A	ENSP00000251119:p.Pro1811Leu					ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	p.P1811L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	28	5570	-			1811					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5432C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269444	0.80469	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.49720	0.77;0.77	5.76	5.76	0.90799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.81780	-0.0776	10	0.87932	D	0	-14.759	19.9574	0.97228	0.0:0.0:1.0:0.0	.	1811;1811	G3V2D8;Q68DK2	.;ZFY26_HUMAN	L	1811;1790;1811	ENSP00000251119:P1811L;ENSP00000450603:P1811L	ENSP00000251119:P1811L	P	-	2	0	ZFYVE26	67308569	1.000000	0.71417	0.432000	0.26747	0.625000	0.37756	7.804000	0.85993	2.715000	0.92844	0.561000	0.74099	CCG		0.562	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		50	64	0	0	0	1	0	50	64					A	68238816	G	A	68238816	3	1	111	1	0	0	0	0	1	0	0	0	17721	1116	39	1	2247	1	ZFYVE26	14	68238816	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	43613931	68238816	39110724	93	36559											
ZFYVE26	23503	broad.mit.edu	37	chr14	68260952	68260952	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtttgaacctctgtctcgGccatctacaggtattgggaa	12	9	3	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68260952G>A	ENST00000347230.4	-	13	2475	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G	ZFYVE26_ENST00000555452.1_Silent_p.G779G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	779					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)		CTCTGTCTCGGCCATCTACAG	0.458																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(2335-2337)ggC>ggT		zinc finger, FYVE domain containing 26							211	182	192					14																	68260952		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68260952G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2337C>T	14.37:g.68260952G>A						ZFYVE26_ENST00000555452.1_Silent_p.G779G	p.G779G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	13	2475	-			779					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.2337C>T	CCDS9788.1																																																																																				0.458	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		6	645	0	0	0	1	0	6	645					A	68260952	G	A	68260952	2	1	111	1	0	0	0	0	0	0	0	1	17721	1190	42	2		2	ZFYVE26	14	68260952	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	22136	68260952	39088588	94	36560											
GALC	2581	broad.mit.edu	37	chr14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtctctggttgagaacttggCgtagcgtgaagtgatgctcg	15	7	1	3	rs200378205	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). {ECO:0000269|PubMed:10234611}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		15418	0.002		0.0	False		,,,				2504	0.0					ENST00000261304.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CM990620	GALC	M		c.(1591-1593)cGc>cAc		galactosylceramidase							123	119	120					14																	88411975		1885	4098	5983	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88411975C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1592G>A	14.37:g.88411975C>T	ENSP00000261304:p.Arg531His					GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H	p.R531H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN			14	1698	-			531		R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1592G>A	CCDS9878.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.14	3.314547	0.60524	.	.	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	5.5	4.61	0.57282	.	0.048176	0.85682	D	0.000000	D	0.97745	0.9260	M	0.91140	3.18	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	0.98792	1.0736	10	0.87932	D	0	-13.106	15.9398	0.79745	0.1363:0.8637:0.0:0.0	.	475;508;505;531	P54803-5;E7EPA4;P54803-4;P54803	.;.;.;GALC_HUMAN	H	531;475;505;320;508	ENSP00000261304:R531H;ENSP00000437513:R475H;ENSP00000377199:R505H;ENSP00000377198:R508H	ENSP00000261304:R531H	R	-	2	0	GALC	87481728	1.000000	0.71417	0.840000	0.33206	0.012000	0.07955	7.637000	0.83313	1.441000	0.47550	0.585000	0.79938	CGC		0.408	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			115	337	0	0	0	1	0	115	337					T	88411975	C	T	88411975	3	4	111	1	0	0	0	0	1	0	0	0	6229	768	27	1	481	1	GALC	14	88411975	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	20151023	88411975	18937565	95	36561											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-													cggagcaggccccgcagccgCtcctcctcctcctcccagag							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		8	554						8	554	---	---	---	---	-	95921890	CTC	-	95921888	7	5	111	1	0	1	0	1	0	0	0	0	1781	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-S4-A8RO-01A-12D-A377-08	7509913	95921888	11427652	96	36562											
PPP2R5C	5527	broad.mit.edu	37	chr14	102360847	102360847	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccttttactttttagctgGcatactgtgtagtgcagttt	8	8	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:102360847G>A	ENST00000334743.5	+	8	850	c.802G>A	c.(802-804)Gca>Aca	p.A268T	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.A299T|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	268					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						TTTTTAGCTGGCATACTGTGT	0.403																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(895-897)Gca>Aca		protein phosphatase 2, regulatory subunit B', gamma							177	134	149					14																	102360847		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102360847G>A	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.802G>A	14.37:g.102360847G>A	ENSP00000333905:p.Ala268Thr					PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.A268T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T	p.A299T	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			10	991	+			268					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.895G>A	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593023	0.86953	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.49720	0.78;0.77;0.77;0.83;0.78	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56615	0.1997	L	0.59436	1.845	0.80722	D	1	P;B;P;P;B;P	0.45531	0.831;0.083;0.765;0.86;0.148;0.567	B;B;B;P;B;B	0.48063	0.429;0.122;0.252;0.565;0.074;0.443	T	0.57487	-0.7803	10	0.54805	T	0.06	-6.5997	19.6959	0.96026	0.0:0.0:1.0:0.0	.	299;166;268;268;268;323	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	T	299;323;297;268;166;268;268;268;64	ENSP00000412324:A299T;ENSP00000329009:A323T;ENSP00000450931:A297T;ENSP00000262239:A268T;ENSP00000333905:A268T	ENSP00000329009:A323T	A	+	1	0	PPP2R5C	101430600	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	9.694000	0.98686	2.659000	0.90383	0.650000	0.86243	GCA		0.403	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		6	401	0	0	0	1	0	6	401					A	102360847	G	A	102360847	3	1	111	1	0	0	0	0	1	0	0	0	12441	1203	42	2	1201	2	PPP2R5C	14	102360847	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	6438959	102360847	4988693	97	36563											
CILP	8483	broad.mit.edu	37	chr15	65489789	65489789	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattccatcggctttggCcaccatgccagatagtcttc	8	13	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr15:65489789C>T	ENST00000261883.4	-	9	3001	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	945					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						TCGGCTTTGGCCACCATGCCA	0.532																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2833-2835)tgG>tgA		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							118	109	112					15																	65489789		2202	4299	6501	SO:0001587	stop_gained	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489789C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2835G>A	15.37:g.65489789C>T	ENSP00000261883:p.Trp945*						p.W945*	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	3001	-			945					B2R8F7|Q6UW99|Q8IYI5	Nonsense_Mutation	SNP	ENST00000261883.4	37	c.2835G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	40	8.244679	0.98724	.	.	ENSG00000138615	ENST00000261883	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7735	19.0159	0.92894	0.0:1.0:0.0:0.0	.	.	.	.	X	945	.	ENSP00000261883:W945X	W	-	3	0	CILP	63276842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.795000	0.85887	2.732000	0.93576	0.655000	0.94253	TGG		0.532	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		5	399	0	0	0	1	0	5	399					T	65489789	C	T	65489789	4	4	111	1	0	0	0	0	0	1	0	0	3438	740	26	2	723	2	CILP	15	65489789	Nonsense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		65489789	37041603	98	36564											
IFT140	9742	broad.mit.edu	37	chr16	1612009	1612009	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtgaagtagtaataagGcacttccatccccaggagac	9	10	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:1612009G>A	ENST00000426508.2	-	18	2539	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	726					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)				TAGTAATAAGGCACTTCCATC	0.557																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2176-2178)Cct>Tct		intraflagellar transport 140 homolog (Chlamydomonas)							89	82	84					16																	1612009		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1612009G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2176C>T	16.37:g.1612009G>A	ENSP00000406012:p.Pro726Ser					IFT140_ENST00000439987.2_5'UTR	p.P726S	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			18	2539	-		Hepatocellular(780;0.219)	726					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2176C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702254	0.68501	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.68025	-0.3	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86852	0.2024	10	0.87932	D	0	.	18.9059	0.92460	0.0:0.0:1.0:0.0	.	726;451	Q96RY7;B4DR58	IF140_HUMAN;.	S	726	ENSP00000406012:P726S	ENSP00000380562:P726S	P	-	1	0	IFT140	1552010	1.000000	0.71417	0.797000	0.32132	0.084000	0.17831	9.225000	0.95219	2.535000	0.85469	0.563000	0.77884	CCT		0.557	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		93	86	0	0	0	1	0	93	86					A	1612009	G	A	1612009	3	1	111	1	0	0	0	0	1	0	0	0	7586	1203	42	2	2268	2	IFT140	16	1612009	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		1612009	88742744	99	36565											
EIF3C	8663	broad.mit.edu	37	chr16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-													ggaaatccaagcgcctggatGaggaggaggaggacaatgaa							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"eukaryotic translation initiation factor 3, subunit 8, 110kDa"	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		9	2502						9	2502	---	---	---	---	-	28734581	GAG	-	28734579	7	5	111	1	0	1	0	1	0	0	0	0	5030	1291	45	0	3726	0	EIF3C	16	28734579	In_Frame_Del	DEL	GAG	TCGA-S4-A8RO-01A-12D-A377-08	27122570	28734579	61620174	100	36566											
NUDT21	11051	broad.mit.edu	37	chr16	56468701	56468701	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagaaacaacttcttaTgttccttaggctttgtaata	6	8	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:56468701T>C	ENST00000300291.5	-	5	684	c.512A>G	c.(511-513)cAt>cGt	p.H171R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	171	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAACTTCTTATGTTCCTTAGG	0.303																																						ENST00000300291.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(511-513)cAt>cGt		nudix (nucleoside diphosphate linked moiety X)-type motif 21							106	111	109					16																	56468701		2197	4293	6490	SO:0001583	missense	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56468701T>C	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"Nudix motif containing"	13870	protein-coding gene	gene with protein product	"cleavage factor Im complex 25 kDa subunit"	604978	"cleavage and polyadenylation specific factor 5, 25 kDa", "cleavage and polyadenylation specific factor 5, 25 kD subunit"	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.512A>G	16.37:g.56468701T>C	ENSP00000300291:p.His171Arg						p.H171R	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN			5	684	-			171			Nudix hydrolase.		Q6IB85|Q6NE84	Missense_Mutation	SNP	ENST00000300291.5	37	c.512A>G	CCDS10760.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563365	0.45694	.	.	ENSG00000167005	ENST00000300291	.	.	.	5.34	5.34	0.76211	NUDIX hydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	L	0.42581	1.335	0.80722	D	1	D	0.63046	0.992	P	0.57152	0.814	T	0.58578	-0.7612	9	0.23302	T	0.38	.	15.602	0.76631	0.0:0.0:0.0:1.0	.	171	O43809	CPSF5_HUMAN	R	171	.	ENSP00000300291:H171R	H	-	2	0	NUDT21	55026202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.582000	0.82546	2.145000	0.66743	0.477000	0.44152	CAT		0.303	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		235	453	0	0	0	1	0	235	453					C	56468701	T	C	56468701	3	2	111	1	0	0	0	0	1	0	0	0	10780	1464	51	4	183	4	NUDT21	16	56468701	Missense_Mutation	SNP	T	TCGA-S4-A8RO-01A-12D-A377-08	27734122	56468701	33886052	101	36567											
RSPRY1	89970	broad.mit.edu	37	chr16	57238646	57238646	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttgactctcgaagagCacatagcccacttcctaggg	10	11	1	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:57238646C>A	ENST00000537866.1	+	2	949	c.76C>A	c.(76-78)Cac>Aac	p.H26N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.H26N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	26						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCTCGAAGAGCACATAGCCCA	0.502																																						ENST00000537866.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						c.(76-78)Cac>Aac		ring finger and SPRY domain containing 1							206	211	209					16																	57238646		2198	4300	6498	SO:0001583	missense	89970					extracellular region	zinc ion binding	g.chr16:57238646C>A	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"RING-type (C3HC4) zinc fingers"	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.76C>A	16.37:g.57238646C>A	ENSP00000443176:p.His26Asn					RSPRY1_ENST00000394420.4_Missense_Mutation_p.H26N	p.H26N			Q96DX4	RSPRY_HUMAN			2	949	+			26					Q6UX21|Q8ND53	Missense_Mutation	SNP	ENST00000537866.1	37	c.76C>A	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469227	0.63625	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	D;D	0.84660	-1.88;-1.88	5.12	5.12	0.69794	.	0.163476	0.42821	D	0.000651	T	0.82157	0.4976	L	0.40543	1.245	0.48571	D	0.99967	P;B	0.42518	0.782;0.039	B;B	0.40256	0.324;0.005	D	0.84695	0.0725	10	0.66056	D	0.02	.	18.9378	0.92592	0.0:1.0:0.0:0.0	.	26;26	Q96DX4-2;Q96DX4	.;RSPRY_HUMAN	N	26	ENSP00000377942:H26N;ENSP00000443176:H26N	ENSP00000377942:H26N	H	+	1	0	RSPRY1	55796147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.155000	0.64900	2.550000	0.86006	0.655000	0.94253	CAC		0.502	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		7	749	1	0	0.000157383	1	0.000159792	7	749					A	57238646	C	A	57238646	3	1	111	1	0	0	0	0	1	0	0	0	13763	710	25	3	78	3	RSPRY1	16	57238646	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	769945	57238646	33116107	102	36568											
NRN1L	123904	broad.mit.edu	37	chr16	67920029	67920029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggtgccccggtgcatgttcGggagcgcggcacaggctccg	17	14	0	0	rs373963412		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:67920029G>A	ENST00000339176.3	+	3	464	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	122					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GTGCATGTTCGGGAGCGCGGC	0.667																																						ENST00000339176.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(364-366)cGg>cAg		neuritin 1-like		G	GLN/ARG	0,4394		0,0,2197	33	33	33		365	-3.5	0	16		33	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NRN1L	NM_198443.1	43	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	122/166	67920029	2,12992	2197	4300	6497	SO:0001583	missense	123904					anchored to membrane|plasma membrane		g.chr16:67920029G>A	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.365G>A	16.37:g.67920029G>A	ENSP00000342411:p.Arg122Gln					CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R	p.R122Q	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	3	464	+		Ovarian(137;0.192)	122					Q6UWH7	Missense_Mutation	SNP	ENST00000339176.3	37	c.365G>A	CCDS10850.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599853	0.28534	0.0	2.33E-4	ENSG00000188038	ENST00000339176	.	.	.	4.86	-3.54	0.04653	.	1.058750	0.07350	N	0.882262	T	0.10508	0.0257	N	0.01109	-1.01	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.29822	-0.9999	9	0.19147	T	0.46	.	6.5616	0.22489	0.4412:0.2124:0.3464:0.0	.	122	Q496H8	NRN1L_HUMAN	Q	122	.	ENSP00000342411:R122Q	R	+	2	0	NRN1L	66477530	0.010000	0.17322	0.049000	0.19019	0.006000	0.05464	0.003000	0.13083	-0.579000	0.05952	-1.417000	0.01113	CGG		0.667	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		27	44	0	0	0	1	0	27	44					A	67920029	G	A	67920029	3	1	111	1	0	0	0	0	1	0	0	0	10701	1116	39	1	375	1	NRN1L	16	67920029	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	10681383	67920029	22434724	103	36569											
PLD2	5338	broad.mit.edu	37	chr17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttatcccggacttgggccGcaaaggactgtgagtgtctg	13	10	1	1	rs368249657		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					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)	GACTTGGGCCGCAAAGGACTG	0.567																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(604-606)cGc>cAc		phospholipase D2	Choline(DB00122)						56	59	58					17																	4712837		2203	4300	6503	SO:0001583	missense	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4712837G>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.605G>A	17.37:g.4712837G>A	ENSP00000263088:p.Arg202His					PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN			7	736	+			202					I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	c.605G>A	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940910	0.34283	.	.	ENSG00000129219	ENST00000263088	T	0.06449	3.3	5.1	0.825	0.18824	.	0.567307	0.19886	N	0.103853	T	0.02610	0.0079	N	0.04508	-0.205	0.19775	N	0.99996	B;B;B	0.21225	0.053;0.041;0.01	B;B;B	0.12156	0.001;0.007;0.002	T	0.48151	-0.9060	10	0.15499	T	0.54	-1.3847	9.5998	0.39596	0.0:0.495:0.426:0.079	.	59;202;202	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	H	202	ENSP00000263088:R202H	ENSP00000263088:R202H	R	+	2	0	PLD2	4659801	0.761000	0.28439	0.852000	0.33557	0.645000	0.38454	1.825000	0.39081	0.056000	0.16144	-0.311000	0.09066	CGC		0.567	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		5	258	0	0	0	1	0	5	258					A	4712837	G	A	4712837	3	1	111	1	0	0	0	0	1	0	0	0	12088	1087	38	1	627	1	PLD2	17	4712837	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		4712837	76482373	104	36570											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	9	16	3	0	rs28934574		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	35	0	0	0	1	0	50	35					A	7577094	G	A	7577094	3	1	111	1	0	0	0	0	1	0	0	0	16434	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	2864257	7577094	73618116	105	36571											
GPR179	440435	broad.mit.edu	37	chr17	36485458	36485458	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggagctgacccaggggAcagacctcctcgatcggcac	13	14	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:36485458A>G	ENST00000342292.4	-	11	4014	c.3994T>C	c.(3994-3996)Tcc>Ccc	p.S1332P	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1332					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)				GACCCAGGGGACAGACCTCCT	0.607																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3994-3996)Tcc>Ccc		G protein-coupled receptor 179							48	53	51					17																	36485458		1981	4160	6141	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485458A>G		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.3994T>C	17.37:g.36485458A>G	ENSP00000345060:p.Ser1332Pro						p.S1332P	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	4014	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1332						Missense_Mutation	SNP	ENST00000342292.4	37	c.3994T>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	A	2.564	-0.301204	0.05495	.	.	ENSG00000188888	ENST00000342292	T	0.53206	0.63	4.74	1.23	0.21249	.	0.407814	0.21212	N	0.078287	T	0.32912	0.0845	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14839	-1.0458	10	0.39692	T	0.17	-4.2878	4.6654	0.12662	0.6483:0.1668:0.185:0.0	.	1332	Q6PRD1	GP179_HUMAN	P	1332	ENSP00000345060:S1332P	ENSP00000345060:S1332P	S	-	1	0	GPR179	33738984	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.510000	0.22723	0.854000	0.35336	0.374000	0.22700	TCC		0.607	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	207	0	0	0	1	0	5	207					G	36485458	A	G	36485458	3	3	111	1	0	0	0	0	1	0	0	0	6703	275	10	4	3113	4	GPR179	17	36485458	Missense_Mutation	SNP	A	TCGA-S4-A8RO-01A-12D-A377-08	28908364	36485458	44709752	106	36572											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcactggggcttgcagcaGctggacacacagcagctggg	15	12	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																						ENST00000333822.4																			1	Substitution - Missense(1)	p.S108R(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(322-324)agC>agG		keratin associated protein 4-8							4	6	6					17																	39254013		638	1500	2138	SO:0001583	missense	728224					keratin filament		g.chr17:39254013G>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg						p.S108R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	380	-			108			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.324C>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	95	0	0	0	1	0	4	95					C	39254013	G	C	39254013	3	2	111	1	0	0	0	0	1	0	0	0	8587	962	34	5	237	5	KRTAP4-8	17	39254013	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	2768555	39254013	41941197	107	36573											
KRTAP4-3	85290	broad.mit.edu	37	chr17	39324213	39324213	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatgcagcagctggggCggcagcaggtggtcctgcag	18	9	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39324213C>T	ENST00000391356.2	-	1	211	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	71	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagctggggcggcagcaggt	0.637																																						ENST00000391356.2																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12						c.(211-213)cGc>cAc		keratin associated protein 4-3							3	5	4					17																	39324213		1366	3428	4794	SO:0001583	missense	85290					keratin filament		g.chr17:39324213C>T	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.212G>A	17.37:g.39324213C>T	ENSP00000375151:p.Arg71His						p.R71H	NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	211	-		Breast(137;0.000496)	71			29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].			Missense_Mutation	SNP	ENST00000391356.2	37	c.212G>A	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.484619	0.44147	.	.	ENSG00000196156	ENST00000391356	T	0.01495	4.83	4.46	1.32	0.21799	.	.	.	.	.	T	0.01870	0.0059	L	0.54908	1.71	0.09310	N	1	P	0.38335	0.627	B	0.23018	0.043	T	0.44667	-0.9313	9	0.66056	D	0.02	.	8.1078	0.30896	0.0:0.721:0.0:0.279	.	71	Q9BYR4	KRA43_HUMAN	H	71	ENSP00000375151:R71H	ENSP00000375151:R71H	R	-	2	0	KRTAP4-3	36577739	0.000000	0.05858	0.174000	0.22961	0.413000	0.31143	-0.095000	0.11077	0.081000	0.16988	0.609000	0.83330	CGC		0.637	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			13	27	0	0	0	1	0	13	27					T	39324213	C	T	39324213	3	4	111	1	0	0	0	0	1	0	0	0	8583	768	27	1	379	1	KRTAP4-3	17	39324213	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	70200	39324213	41870997	108	36574											
KRT34	3885	broad.mit.edu	37	chr17	39537409	39537409	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatccaggatcctgcGtatgctgttgatgtccgact	10	12	1	1	rs375548630		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39537409G>A	ENST00000394001.1	-	3	643	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGATCCTGCGTATGCTGTTG	0.562																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(613-615)Cgc>Tgc		keratin 34		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	154	127	136		613	5.5	1	17		136	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	205/437	39537409	1,13005	2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39537409G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.613C>T	17.37:g.39537409G>A	ENSP00000377570:p.Arg205Cys						p.R205C	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			3	643	-		Breast(137;0.000496)	205			Coil 1B.|Rod.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.613C>T	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.519112	0.64634	2.27E-4	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000003	T	0.80019	0.4547	M	0.74881	2.28	0.48341	D	0.999631	D	0.89917	1.0	D	0.85130	0.997	T	0.81852	-0.0742	9	0.87932	D	0	.	18.419	0.90582	0.0:0.0:1.0:0.0	.	205	O76011	KRT34_HUMAN	C	163;205	.	ENSP00000251648:R205C	R	-	1	0	KRT34	36790935	0.995000	0.38212	1.000000	0.80357	0.497000	0.33675	2.210000	0.42816	2.606000	0.88127	0.655000	0.94253	CGC		0.562	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		112	165	0	0	0	1	0	112	165					A	39537409	G	A	39537409	3	1	111	1	0	0	0	0	1	0	0	0	8501	1145	40	1	717	1	KRT34	17	39537409	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	213196	39537409	41657801	109	36575											
PTRF	284119	broad.mit.edu	37	chr17	40557353	40557353	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccttctctggcagcgcctcCgactctttcagcgatttgct	8	15	3	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:40557353C>T	ENST00000357037.5	-	2	944	c.525G>A	c.(523-525)tcG>tcA	p.S175S		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.S175S(1)		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)		GCAGCGCCTCCGACTCTTTCA	0.647																																						ENST00000357037.5																			1	Substitution - coding silent(1)	p.S175S(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(523-525)tcG>tcA		polymerase I and transcript release factor							81	88	86					17																	40557353		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557353C>T	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.525G>A	17.37:g.40557353C>T							p.S175S	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	944	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	175						Silent	SNP	ENST00000357037.5	37	c.525G>A	CCDS11425.1																																																																																				0.647	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		175	362	0	0	0	1	0	175	362					T	40557353	C	T	40557353	2	4	111	1	0	0	0	0	0	0	0	1	12865	639	23	1		1	PTRF	17	40557353	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	1019944	40557353	40637857	110	36576											
RPS6KB1	6198	broad.mit.edu	37	chr17	58009016	58009016	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaatctccatggctttgggGcatttacatcaaaaggggat	11	7	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:58009016G>A	ENST00000225577.4	+	7	642	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000393021.3_Silent_p.G154G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368																																						ENST00000225577.4																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(619-621)ggG>ggA		ribosomal protein S6 kinase, 70kDa, polypeptide 1							63	64	63					17																	58009016		2203	4300	6503	SO:0001819	synonymous_variant	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:58009016G>A	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"ribosomal protein S6 kinase, 70kD, polypeptide 1"	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.621G>A	17.37:g.58009016G>A						RPS6KB1_ENST00000393021.3_Silent_p.G154G|RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000406116.3_Silent_p.G207G	p.G207G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		7	642	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		207			Protein kinase.		B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Silent	SNP	ENST00000225577.4	37	c.621G>A	CCDS11621.1																																																																																				0.368	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		5	330	0	0	0	1	0	5	330					A	58009016	G	A	58009016	2	1	111	1	0	0	0	0	0	0	0	1	13706	1190	42	2		2	RPS6KB1	17	58009016	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	17451663	58009016	23186194	111	36577											
NDUFV2	4729	broad.mit.edu	37	chr18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gttttacaagtacctccaatGagagtatatgaagtagcaac	8	7	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:9122540G>A	ENST00000318388.6	+	5	444	c.330G>A	c.(328-330)atG>atA	p.M110I	RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.M113I|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					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						TACCTCCAATGAGAGTATATG	0.328																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(337-339)atG>atA		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						99	96	97					18																	9122540		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9122540G>A	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.330G>A	18.37:g.9122540G>A	ENSP00000327268:p.Met110Ile					NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000583081.1_RNA|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I	p.M113I			P19404	NDUV2_HUMAN			6	456	+			110					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.339G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714320	0.68730	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.41400	1.0;1.0	5.93	5.93	0.95920	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	N	0.13299	0.325	0.80722	D	1	B	0.23806	0.091	B	0.40329	0.326	T	0.16928	-1.0386	10	0.11182	T	0.66	-14.8923	20.3397	0.98756	0.0:0.0:1.0:0.0	.	110	P19404	NDUV2_HUMAN	I	110;113	ENSP00000327268:M110I;ENSP00000382908:M113I	ENSP00000327268:M110I	M	+	3	0	NDUFV2	9112540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.623000	0.98386	2.803000	0.96430	0.585000	0.79938	ATG		0.328	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		7	732	0	0	0	1	0	7	732					A	9122540	G	A	9122540	3	1	111	1	0	0	0	0	1	0	0	0	10342	1290	45	2	348	2	NDUFV2	18	9122540	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		9122540	68954708	112	36578											
DSC3	1825	broad.mit.edu	37	chr18	28610959	28610959	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctgatgttctagcaGcacagtaacctctttctgtg	7	11	5	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:28610959G>A	ENST00000360428.4	-	3	414	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	DSC3_ENST00000434452.1_Silent_p.L112L	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	112					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)			TGTTCTAGCAGCACAGTAACC	0.338																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(334-336)Ctg>Ttg		desmocollin 3							103	93	96					18																	28610959		2203	4300	6503	SO:0001819	synonymous_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28610959G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.334C>T	18.37:g.28610959G>A						DSC3_ENST00000360428.4_Silent_p.L112L	p.L112L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		3	488	-			112					A6NN35|Q14200|Q9HAZ9	Silent	SNP	ENST00000360428.4	37	c.334C>T	CCDS32810.1																																																																																				0.338	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		100	229	0	0	0	1	0	100	229					A	28610959	G	A	28610959	2	1	111	1	0	0	0	0	0	0	0	1	4783	962	34	2		2	DSC3	18	28610959	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	19488419	28610959	49466289	113	36579											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|UQCR11_ENST00000585937.1_3'UTR|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del	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)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	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_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		8	135						8	135	---	---	---	---	-	1578374	CTC	-	1578372	7	5	111	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-S4-A8RO-01A-12D-A377-08		1578372	57550611	114	36580											
TMIGD2	126259	broad.mit.edu	37	chr19	4298112	4298113	+	Frame_Shift_Ins	INS	-	-	G													agctgcagggtgagatggctINSgggtgcctgccaggagagcc							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:4298112_4298113insG	ENST00000301272.2	-	2	321_322	c.276_277insC	c.(274-279)cccagcfs	p.S93fs	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Frame_Shift_Ins_p.S93fs|TMIGD2_ENST00000600114.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	93	Ig-like.				positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.S93R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGATGGCTGGGTGCCTGCC	0.658																																						ENST00000301272.2																			1	Substitution - Missense(1)	p.S93R(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19						c.(274-279)ccgccafs		transmembrane and immunoglobulin domain containing 2																																				SO:0001589	frameshift_variant	126259					integral to membrane		g.chr19:4298112_4298113insG	BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.277dupC	19.37:g.4298115_4298115dupG	ENSP00000301272:p.Ser93fs					TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Frame_Shift_Ins_p.P93fs|TMIGD2_ENST00000600114.1_Intron	p.P93fs	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	2	321_322	-			93			Ig-like.		Q6UW59	Frame_Shift_Ins	INS	ENST00000301272.2	37	c.276_277insC	CCDS12126.1																																																																																				0.658	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1	NM_144615		114	255						114	255	---	---	---	---	G	4298113	-	G	4298112	7	5	111	1	0	1	1	0	0	0	0	0	16283	1580	55	0	587	0	TMIGD2	19	4298112	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	2719740	4298112	54830871	115	36581											
KEAP1	9817	broad.mit.edu	37	chr19	10610147	10610147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatctgctcagcgaagttgGcgatgccgatggcattgctg	13	10	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:10610147G>C	ENST00000171111.5	-	2	1110	c.563C>G	c.(562-564)gCc>gGc	p.A188G	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	188	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)	AGCGAAGTTGGCGATGCCGAT	0.597																																						ENST00000171111.5																			0				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						c.(562-564)gCc>gGc		kelch-like ECH-associated protein 1							99	79	86					19																	10610147		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610147G>C	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.563C>G	19.37:g.10610147G>C	ENSP00000171111:p.Ala188Gly					KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G	p.A188G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	1110	-			188			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.563C>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980801	0.74474	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69306	-0.39;-0.39	4.81	4.81	0.61882	BTB/Kelch-associated (2);	0.053770	0.64402	D	0.000001	T	0.76962	0.4061	L	0.53617	1.68	0.80722	D	1	D	0.67145	0.996	D	0.65573	0.936	T	0.79619	-0.1728	10	0.72032	D	0.01	.	15.3825	0.74669	0.0:0.0:1.0:0.0	.	188	Q14145	KEAP1_HUMAN	G	188	ENSP00000171111:A188G;ENSP00000377245:A188G	ENSP00000171111:A188G	A	-	2	0	KEAP1	10471147	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.017000	0.57167	2.232000	0.73038	0.561000	0.74099	GCC		0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		38	82	0	0	0	1	0	38	82					C	10610147	G	C	10610147	3	2	111	1	0	0	0	0	1	0	0	0	8171	1203	42	5	1331	5	KEAP1	19	10610147	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	6312035	10610147	48518836	116	36582											
UNC13A	23025	broad.mit.edu	37	chr19	17766751	17766751	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagctgcaggcaccttgtcGggcgtggctggcttgggggc	18	11	1	0	rs369156469		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:17766751G>A	ENST00000519716.2	-	10	1223	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	UNC13A_ENST00000551649.1_Silent_p.P408P|UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000428389.2_Silent_p.P496P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000252773.7_Silent_p.P408P	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	408					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						GCACCTTGTCGGGCGTGGCTG	0.692																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1486-1488)ccC>ccT		unc-13 homolog A (C. elegans)		G		1,4031		0,1,2015	22	27	25		1224	-8.5	0	19		25	1,8337		0,1,4168	no	coding-synonymous	UNC13A	NM_001080421.2		0,2,6183	AA,AG,GG		0.012,0.0248,0.0162		408/1704	17766751	2,12368	2016	4169	6185	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766751G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1224C>T	19.37:g.17766751G>A						UNC13A_ENST00000252773.7_Silent_p.P408P|UNC13A_ENST00000519716.2_Silent_p.P408P|UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000551649.1_Silent_p.P408P|UNC13A_ENST00000550896.1_Silent_p.P408P	p.P496P			Q9UPW8	UN13A_HUMAN			11	1487	-			408					E5RHY9	Silent	SNP	ENST00000519716.2	37	c.1488C>T	CCDS46013.2																																																																																				0.692	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		22	53	0	0	0	1	0	22	53					A	17766751	G	A	17766751	2	1	111	1	0	0	0	0	0	0	0	1	17038	1103	39	1		1	UNC13A	19	17766751	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	7156604	17766751	41362232	117	36583											
UPF1	5976	broad.mit.edu	37	chr19	18971174	18971174	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acttccagtggccccaacccGataaaccgatgttcttctac	6	15	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:18971174G>A	ENST00000599848.1	+	16	2469	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N	UPF1_ENST00000262803.5_Missense_Mutation_p.D743N			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	754					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						GCCCCAACCCGATAAACCGAT	0.572																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2227-2229)Gat>Aat		UPF1 regulator of nonsense transcripts homolog (yeast)							165	149	155					19																	18971174		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18971174G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2260G>A	19.37:g.18971174G>A	ENSP00000470142:p.Asp754Asn					UPF1_ENST00000599848.1_Missense_Mutation_p.D754N	p.D743N	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			16	2499	+			754					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2227G>A		.	.	.	.	.	.	.	.	.	.	G	15.28	2.786634	0.49997	.	.	ENSG00000005007	ENST00000262803	D	0.82619	-1.63	4.62	4.62	0.57501	.	0.049115	0.85682	D	0.000000	T	0.70107	0.3186	N	0.11756	0.17	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.64875	-0.6304	10	0.26408	T	0.33	-36.0408	16.4462	0.83935	0.0:0.0:1.0:0.0	.	754;743	Q92900;Q92900-2	RENT1_HUMAN;.	N	743	ENSP00000262803:D743N	ENSP00000262803:D743N	D	+	1	0	UPF1	18832174	1.000000	0.71417	0.995000	0.50966	0.693000	0.40251	9.369000	0.97156	2.108000	0.64289	0.478000	0.44815	GAT		0.572	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		5	681	0	0	0	1	0	5	681					A	18971174	G	A	18971174	3	1	111	1	0	0	0	0	1	0	0	0	17057	1058	37	1	2289	1	UPF1	19	18971174	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	1204423	18971174	40157809	118	36584											
FXYD3	5349	broad.mit.edu	37	chr19	35613737	35613737	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccatgggcatcatcatcGtcatgagtgagtggaggagc	15	9	3	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:35613737G>A	ENST00000344013.6	+	6	362	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000435734.2_Missense_Mutation_p.V56I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	56					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)	p.V56L(1)		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)			CATCATCATCGTCATGAGTGA	0.637																																						ENST00000435734.2																			1	Substitution - Missense(1)	p.V56L(1)	lung(1)	endometrium(1)|lung(2)|prostate(1)	4						c.(166-168)Gtc>Atc		FXYD domain containing ion transport regulator 3							75	80	79					19																	35613737		2203	4300	6503	SO:0001583	missense	5349					chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35613737G>A	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.166G>A	19.37:g.35613737G>A	ENSP00000339499:p.Val56Ile					FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000344013.6_Missense_Mutation_p.V56I|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I	p.V56I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	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)		7	425	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		56					A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	ENST00000344013.6	37	c.166G>A	CCDS12442.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620212	0.14193	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.97	2.77	0.32553	.	0.160135	0.41294	D	0.000906	T	0.24005	0.0581	N	0.02334	-0.595	0.20821	N	0.999848	B;B;B;B	0.33379	0.389;0.41;0.248;0.16	B;B;B;B	0.22386	0.039;0.036;0.024;0.027	T	0.23547	-1.0185	10	0.09084	T	0.74	-1.8921	11.7292	0.51726	0.0:0.6497:0.3503:0.0	.	113;56;56;56	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	I	56;113;56;56;56;113	ENSP00000385412:V56I;ENSP00000328259:V56I;ENSP00000339499:V56I;ENSP00000385200:V56I;ENSP00000443953:V113I	ENSP00000339499:V56I	V	+	1	0	FXYD3	40305577	0.031000	0.19500	0.271000	0.24616	0.012000	0.07955	0.640000	0.24705	0.485000	0.27652	-0.153000	0.13522	GTC		0.637	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		108	202	0	0	0	1	0	108	202					A	35613737	G	A	35613737	3	1	111	1	0	0	0	0	1	0	0	0	6146	1145	40	1	448	1	FXYD3	19	35613737	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	16642563	35613737	23515246	119	36585											
HAUS5	23354	broad.mit.edu	37	chr19	36105981	36105981	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggaagctgctgtgacccGcctgcgggcagaaatccagg	15	12	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36105981G>A	ENST00000203166.5	+	5	282	c.257G>A	c.(256-258)cGc>cAc	p.R86H	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86					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						GCTGTGACCCGCCTGCGGGCA	0.607																																						ENST00000203166.5																			0				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						c.(256-258)cGc>cAc		HAUS augmin-like complex, subunit 5							22	26	25					19																	36105981		1948	4145	6093	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36105981G>A	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.257G>A	19.37:g.36105981G>A	ENSP00000439056:p.Arg86His					HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	p.R86H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN			5	282	+			86					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.257G>A	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	8.109	0.778332	0.16120	.	.	ENSG00000249115	ENST00000203166;ENST00000379045	T;T	0.35421	1.31;1.31	4.94	0.373	0.16178	.	0.501507	0.20263	N	0.095838	T	0.32224	0.0822	M	0.67953	2.075	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.28870	-1.0030	10	0.59425	D	0.04	-19.0807	7.3956	0.26934	0.3627:0.0:0.6373:0.0	.	86	O94927	HAUS5_HUMAN	H	86	ENSP00000439056:R86H;ENSP00000444373:R86H	ENSP00000439056:R86H	R	+	2	0	HAUS5	40797821	0.859000	0.29813	0.931000	0.37212	0.070000	0.16714	0.651000	0.24873	-0.066000	0.12998	-0.234000	0.12200	CGC		0.607	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			12	29	0	0	0	1	0	12	29					A	36105981	G	A	36105981	3	1	111	1	0	0	0	0	1	0	0	0	6999	1087	38	1	275	1	HAUS5	19	36105981	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	492244	36105981	23023002	120	36586											
TMEM149	79713	broad.mit.edu	37	chr19	36231946	36231946	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggggggcggcccgaAgcgttgcaggcagctgctgc	20	12	0	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36231946A>C	ENST00000592537.1	-	2	236	c.136T>G	c.(136-138)Ttc>Gtc	p.F46V	IGFLR1_ENST00000588992.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000592889.1_Missense_Mutation_p.F46V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000587101.1_5'Flank|IGFLR1_ENST00000344990.3_Missense_Mutation_p.F46V|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000246532.1_Missense_Mutation_p.F46V			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGCGGCCCGAAGCGTTGCAGG	0.672																																						ENST00000592537.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						c.(136-138)Ttc>Gtc		IGF-like family receptor 1							22	31	28					19																	36231946		2203	4299	6502	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36231946A>C	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 4", "transmembrane protein 149"	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.136T>G	19.37:g.36231946A>C	ENSP00000466181:p.Phe46Val					IGFLR1_ENST00000588992.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000592889.1_Missense_Mutation_p.F46V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000344990.3_Missense_Mutation_p.F46V	p.F46V			Q9H665	IGFR1_HUMAN			2	236	-			46					Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.136T>G	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224049	0.79576	.	.	ENSG00000126246	ENST00000246532;ENST00000344990	D	0.92249	-3.0	4.93	3.86	0.44501	.	0.364637	0.26234	N	0.025544	D	0.90508	0.7026	M	0.61703	1.905	0.24562	N	0.993961	P;B	0.46142	0.873;0.27	P;B	0.45681	0.49;0.162	D	0.85018	0.0910	10	0.56958	D	0.05	-29.0104	8.7011	0.34327	0.8087:0.1913:0.0:0.0	.	46;46	Q9H665;Q9H665-2	IGFR1_HUMAN;.	V	46	ENSP00000246532:F46V	ENSP00000246532:F46V	F	-	1	0	IGFLR1	40923786	0.549000	0.26481	1.000000	0.80357	0.896000	0.52359	1.176000	0.31957	2.072000	0.62099	0.459000	0.35465	TTC		0.672	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		19	34	0	0	0	1	0	19	34					C	36231946	A	C	36231946	3	2	111	1	0	0	0	0	1	0	0	0	16114	72	3	4	947	4	TMEM149	19	36231946	Missense_Mutation	SNP	A	TCGA-S4-A8RO-01A-12D-A377-08	125965	36231946	22897037	121	36587											
PSG7	5676	broad.mit.edu	37	chr19	43433817	43433817	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggttaaaatcacagcctcCgtggcctccctggggttgaa	11	12	1	1	rs565094467		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:43433817C>T	ENST00000406070.2	-	0	582				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TCACAGCCTCCGTGGCCTCCC	0.532													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19165	0.0		0.0	False		,,,				2504	0.0					ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							196	195	196					19																	43433817		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433817C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433817C>T						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	582	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.532	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		274	583	0	0	0	1	0	274	583					T	43433817	C	T	43433817	1	4	111	0	1	0	0	0	0	0	0	0	12707	639	23	1		1	PSG7	19	43433817	RNA	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	7201871	43433817	15695166	122	36588											
HIF3A	64344	broad.mit.edu	37	chr19	46807230	46807230	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccaggagaccgaggtgctGtaccagctggctcacacgct	13	13	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:46807230G>A	ENST00000377670.4	+	2	133	c.102G>A	c.(100-102)ctG>ctA	p.L34L	HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000300862.3_Silent_p.L32L|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000244303.6_Missense_Mutation_p.C14Y|RNU6-924P_ENST00000362926.1_RNA	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	34	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				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)		CCGAGGTGCTGTACCAGCTGG	0.672																																						ENST00000244303.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(40-42)tGt>tAt		hypoxia inducible factor 3, alpha subunit							12	15	14					19																	46807230		2193	4293	6486	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807230G>A	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.102G>A	19.37:g.46807230G>A						HIF3A_ENST00000300862.3_Silent_p.L32L|HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000377670.4_Silent_p.L34L	p.C14Y	NM_022462.4	NP_071907.4	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	201	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	525					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.41G>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729761	0.69074	.	.	ENSG00000124440	ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102	T;T	0.67171	-0.16;-0.25	4.97	2.85	0.33270	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.53287	-0.8460	8	0.87932	D	0	.	4.5387	0.12047	0.1824:0.0:0.6419:0.1757	.	32;14;32	F5H884;B4DNA2;B4DSD9	.;.;.	Y	14;14;14;14;32	ENSP00000244303:C14Y;ENSP00000407771:C32Y	ENSP00000244303:C14Y	C	+	2	0	HIF3A	51499070	0.834000	0.29399	1.000000	0.80357	0.998000	0.95712	-0.000000	0.12993	0.811000	0.34303	0.563000	0.77884	TGT		0.672	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			3	51	0	0	0	1	0	3	51					A	46807230	G	A	46807230	2	1	111	1	0	0	0	0	0	0	0	1	7135	1364	48	2		2	HIF3A	19	46807230	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	3373413	46807230	12321753	123	36589											
LILRA1	11024	broad.mit.edu	37	chr19	55107243	55107243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggagaacgtgacttcctccaGctccctggcccacagcccca	9	18	0	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:55107243G>A	ENST00000251372.3	+	6	983	c.801G>A	c.(799-801)caG>caA	p.Q267Q	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	267	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.L268I(1)		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)		ACTTCCTCCAGCTCCCTGGCC	0.607																																						ENST00000251372.3																			1	Substitution - Missense(1)	p.L268I(1)	lung(1)	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						c.(799-801)caG>caA		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							106	104	104					19																	55107243		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107243G>A	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.801G>A	19.37:g.55107243G>A						LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	p.Q267Q	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	983	+			267			Ig-like C2-type 3.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.801G>A	CCDS12901.1																																																																																				0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		142	232	0	0	0	1	0	142	232					A	55107243	G	A	55107243	2	1	111	1	0	0	0	0	0	0	0	1	8816	962	34	2		2	LILRA1	19	55107243	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	8300013	55107243	4021740	124	36590											
ZNF671	79891	broad.mit.edu	37	chr19	58231918	58231918	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccggatgaattctctcccGcactcactacacacataagg	6	14	2	1	rs207477287		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:58231918G>A	ENST00000317398.6	-	4	1631	c.1536C>T	c.(1534-1536)tgC>tgT	p.C512C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Silent_p.C414C|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		ATTCTCTCCCGCACTCACTAC	0.498																																						ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1534-1536)tgC>tgT		zinc finger protein 671							198	194	195					19																	58231918		2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58231918G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1536C>T	19.37:g.58231918G>A						ZNF671_ENST00000335820.3_Silent_p.C414C|AC003006.7_ENST00000599221.1_Intron	p.C512C	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1631	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	512					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.1536C>T	CCDS12961.1																																																																																				0.498	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		8	991	0	0	0	1	0	8	991					A	58231918	G	A	58231918	2	1	111	1	0	0	0	0	0	0	0	1	18131	1079	38	1		1	ZNF671	19	58231918	Silent	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	3124675	58231918	897065	125	36591											
TMEM90B	79953	broad.mit.edu	37	chr20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-													cacaccctgtcctacgatgtGgaggaggaggaggagttcca							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				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						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	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.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		8	601						8	601	---	---	---	---	-	24524185	GGA	-	24524183	7	5	111	1	0	1	0	1	0	0	0	0	16271	1335	47	0	452	0	TMEM90B	20	24524183	In_Frame_Del	DEL	GGA	TCGA-S4-A8RO-01A-12D-A377-08		24524183	38501337	126	36592											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547257	37547257	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cccactcttaaagttcaaggCccccatagaggagatggagg	11	11	2	2			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:37547257C>G	ENST00000299824.1	+	11	1841	c.1652C>G	c.(1651-1653)gCc>gGc	p.A551G	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					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)				AAGTTCAAGGCCCCCATAGAG	0.572																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1651-1653)gCc>gGc		protein phosphatase 1, regulatory subunit 16B							54	52	53					20																	37547257		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547257C>G	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.1652C>G	20.37:g.37547257C>G	ENSP00000299824:p.Ala551Gly					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	p.A551G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1841	+		Myeloproliferative disorder(115;0.00878)	551					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1652C>G	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.278924|3.278924	0.59758|0.59758	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.77229|.	-0.81;-1.08|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.188207|.	0.48767|.	D|.	0.000177|.	T|T	0.64438|0.64438	0.2598|0.2598	M|M	0.61703|0.61703	1.905|1.905	0.32685|0.32685	N|N	0.514994|0.514994	D;D|.	0.61080|.	0.989;0.98|.	P;P|.	0.57101|.	0.813;0.813|.	T|T	0.70619|0.70619	-0.4822|-0.4822	10|5	0.59425|.	D|.	0.04|.	.|.	17.2316|17.2316	0.86985|0.86985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	509;551|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	G|A	551;509|452	ENSP00000299824:A551G;ENSP00000362428:A509G|.	ENSP00000299824:A551G|.	A|P	+|+	2|1	0|0	PPP1R16B|PPP1R16B	36980671|36980671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.088000|5.088000	0.64486|0.64486	2.498000|2.498000	0.84270|0.84270	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		48	123	0	0	0	1	0	48	123					G	37547257	C	G	37547257	3	3	111	1	0	0	0	0	1	0	0	0	12413	739	26	5	1690	5	PPP1R16B	20	37547257	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	13023074	37547257	25478263	127	36593											
RIMS4	140730	broad.mit.edu	37	chr20	43386349	43386349	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttggctgtcagtcccCgagcctggataatgtccacc	11	14	1	0	rs141614672	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:43386349C>T	ENST00000372851.3	-	4	479	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	138	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)		p.R138Q(1)		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)				TGTCAGTCCCCGAGCCTGGAT	0.597																																						ENST00000372851.3																			1	Substitution - Missense(1)	p.R138Q(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29						c.(412-414)cGg>cAg		regulating synaptic membrane exocytosis 4		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	124	102	109		416,413	4.8	0.8	20	dbSNP_134	109	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	RIMS4	NM_001205317.1,NM_182970.3	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	139/271,138/270	43386349	2,13004	2203	4300	6503	SO:0001583	missense	140730				exocytosis|neurotransmitter transport	cell junction|synapse		g.chr20:43386349C>T		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.413G>A	20.37:g.43386349C>T	ENSP00000361942:p.Arg138Gln					RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	p.R138Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN			4	479	-		Myeloproliferative disorder(115;0.0122)	138			C2.		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.413G>A	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	34	5.371169	0.95923	0.0	2.33E-4	ENSG00000101098	ENST00000372851;ENST00000541604	T;T	0.69806	-0.43;-0.43	5.76	4.82	0.62117	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	0.82240	0.4994	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70487	0.95;0.969	D	0.85425	0.1145	10	0.87932	D	0	.	14.8657	0.70412	0.0:0.9312:0.0:0.0688	.	139;138	E1P613;Q9H426	.;RIMS4_HUMAN	Q	138;139	ENSP00000361942:R138Q;ENSP00000439287:R139Q	ENSP00000361942:R138Q	R	-	2	0	RIMS4	42819763	1.000000	0.71417	0.813000	0.32504	0.910000	0.53928	6.089000	0.71384	1.457000	0.47850	0.655000	0.94253	CGG		0.597	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		109	263	0	0	0	1	0	109	263					T	43386349	C	T	43386349	3	4	111	1	0	0	0	0	1	0	0	0	13420	652	23	1	408	1	RIMS4	20	43386349	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	5839092	43386349	19639171	128	36594											
SNX21	90203	broad.mit.edu	37	chr20	44469907	44469908	+	Frame_Shift_Ins	INS	-	-	C													caggccttacccccacaccaINSccccccagtctcaaagaatt							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:44469907_44469908insC	ENST00000491381.1	+	4	1145_1146	c.1077_1078insC	c.(1078-1080)cccfs	p.P360fs	SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372542.1_Frame_Shift_Ins_p.P351fs|SNX21_ENST00000342644.5_Intron			Q969T3	SNX21_HUMAN	sorting nexin family member 21	360					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCCACACCACCCCCCAGTCT	0.614																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(1048-1053)ccccccfs		sorting nexin family member 21																																				SO:0001589	frameshift_variant	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469907_44469908insC	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.1083dupC	20.37:g.44469913_44469913dupC	ENSP00000418593:p.Pro360fs					SNX21_ENST00000491381.1_Frame_Shift_Ins_p.PP359fs|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	p.PP350fs			Q969T3	SNX21_HUMAN			3	1362_1363	+		Myeloproliferative disorder(115;0.0122)	359					Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Frame_Shift_Ins	INS	ENST00000491381.1	37	c.1050_1051insC	CCDS13377.1																																																																																				0.614	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		8	782						8	782	---	---	---	---	C	44469908	-	C	44469907	7	5	111	1	0	1	1	0	0	0	0	0	14943	146	6	0	1106	0	SNX21	20	44469907	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	1083558	44469907	18555613	129	36595											
ZNF831	128611	broad.mit.edu	37	chr20	57769643	57769643	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacgtggtgttgcctgagccGcagtgtccctctgcccgcgg	14	15	1	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:57769643G>A	ENST00000371030.2	+	1	3569	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1190							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)					TGCCTGAGCCGCAGTGTCCCT	0.647																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3568-3570)cGc>cAc		zinc finger protein 831							37	43	41					20																	57769643		2073	4204	6277	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769643G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3569G>A	20.37:g.57769643G>A	ENSP00000360069:p.Arg1190His						p.R1190H	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3569	+	all_lung(29;0.0085)		1190					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3569G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708768	0.68615	.	.	ENSG00000124203	ENST00000371030	T	0.08896	3.04	5.05	5.05	0.67936	.	0.227351	0.29355	N	0.012399	T	0.21921	0.0528	L	0.52573	1.65	0.31710	N	0.639596	D	0.89917	1.0	D	0.71656	0.974	T	0.03112	-1.1071	10	0.87932	D	0	-16.6053	12.8728	0.57975	0.0814:0.0:0.9186:0.0	.	1190	Q5JPB2	ZN831_HUMAN	H	1190	ENSP00000360069:R1190H	ENSP00000360069:R1190H	R	+	2	0	ZNF831	57203038	0.988000	0.35896	1.000000	0.80357	0.678000	0.39670	3.840000	0.55843	2.352000	0.79861	0.609000	0.83330	CGC		0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	233	0	0	0	1	0	5	233					A	57769643	G	A	57769643	3	1	111	1	0	0	0	0	1	0	0	0	18238	1087	38	1	3571	1	ZNF831	20	57769643	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	13299736	57769643	5255877	130	36596											
SLCO4A1	28231	broad.mit.edu	37	chr20	61300301	61300301	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggggcatcccggggcccatCgccttcggctgggtgatcga	17	13	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:61300301C>T	ENST00000370507.1	+	10	1992	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.I632I|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	632					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)	CGGGGCCCATCGCCTTCGGCT	0.662											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1894-1896)atC>atT		solute carrier organic anion transporter family, member 4A1							34	36	35					20																	61300301		2202	4300	6502	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61300301C>T	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.1896C>T	20.37:g.61300301C>T			OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Silent_p.I632I	p.I632I	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		11	2101	+	Breast(26;3.65e-08)		632					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1896C>T	CCDS13501.1																																																																																				0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		90	108	0	0	0	1	0	90	108					T	61300301	C	T	61300301	2	4	111	1	0	0	0	0	0	0	0	1	14779	874	31	1		1	SLCO4A1	20	61300301	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	3530658	61300301	1725219	131	36597											
TPTE	7179	broad.mit.edu	37	chr21	10942745	10942745	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggtctaggtcaaatccatcCcttgtgtatcgccttttgtt	8	10	2	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr21:10942745C>A	ENST00000361285.4	-	13	1025	c.696G>T	c.(694-696)agG>agT	p.R232S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.R214S|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	232	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAATCCATCCCTTGTGTATC	0.308																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(640-642)agG>agT		transmembrane phosphatase with tensin homology							484	423	444					21																	10942745		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942745C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.696G>T	21.37:g.10942745C>A	ENSP00000355208:p.Arg232Ser					TPTE_ENST00000361285.4_Missense_Mutation_p.R232S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S	p.R214S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	12	1009	-			232					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.642G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.06	1.246943	0.22796	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29142	1.58;1.58;1.58	2.07	0.162	0.14981	Phosphatase tensin type (1);	0.162065	0.52532	U	0.000067	T	0.24890	0.0604	L	0.46157	1.445	0.26087	N	0.981001	B;B;B	0.33345	0.409;0.409;0.012	B;B;B	0.37422	0.196;0.249;0.008	T	0.16188	-1.0411	10	0.66056	D	0.02	-10.1256	6.055	0.19807	0.0:0.6974:0.0:0.3026	.	194;214;232	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	S	214;232;194	ENSP00000298232:R214S;ENSP00000355208:R232S;ENSP00000344441:R194S	ENSP00000298232:R214S	R	-	3	2	TPTE	9964616	0.996000	0.38824	0.396000	0.26296	0.598000	0.36846	0.311000	0.19380	0.028000	0.15324	0.194000	0.17425	AGG		0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			144	737	1	0	1.7984e-59	1	1.97724e-59	144	737					A	10942745	C	A	10942745	3	1	111	1	0	0	0	0	1	0	0	0	16483	622	22	3	1007	3	TPTE	21	10942745	Missense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08		10942745	37187150	132	36598											
ZC3H7B	23264	broad.mit.edu	37	chr22	41753399	41753401	+	In_Frame_Del	DEL	CTG	CTG	-													cggtgccaccccagaagcccCtgctgctgctgccaccgcca							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr22:41753399_41753401delCTG	ENST00000352645.4	+	23	3157_3159	c.2900_2902delCTG	c.(2899-2904)cctgct>cct	p.A971del	ZC3H7B_ENST00000351589.4_In_Frame_Del_p.A971del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	0				E -> G (in Ref. 1; BAG37501 and 3; AAI52559). {ECO:0000305}.	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						CCAGAAGCCCCTGCTGCTGCTGC	0.65																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2899-2904)cct>c		zinc finger CCCH-type containing 7B																																				SO:0001651	inframe_deletion	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753399_41753401delCTG		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.2900_2902delCTG	22.37:g.41753408_41753410delCTG	ENSP00000345793:p.Ala971del					ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del	p.PA967del	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			23	3157_3159	+			983					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	In_Frame_Del	DEL	ENST00000352645.4	37	c.2900_2902delCTG	CCDS14013.1																																																																																				0.65	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	520						7	520	---	---	---	---	-	41753401	CTG	-	41753399	7	5	111	1	0	1	0	1	0	0	0	0	17626	681	24	0	2986	0	ZC3H7B	22	41753399	In_Frame_Del	DEL	CTG	TCGA-S4-A8RO-01A-12D-A377-08		41753399	9551167	133	36599											
ACRC	93953	broad.mit.edu	37	chrX	70823926	70823926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgattcggaagctcccgacGacagcagtgatgattcggaa	12	9	0	3			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:70823926G>A	ENST00000373695.1	+	7	1336	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ACRC_ENST00000373696.3_Missense_Mutation_p.D267N			Q96QF7	ACRC_HUMAN	acidic repeat containing	267	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)					AGCTCCCGACGACAGCAGTGA	0.557																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(799-801)Gac>Aac		acidic repeat containing							33	36	35					X																	70823926		2152	4171	6323	SO:0001583	missense	93953					nucleus		g.chrX:70823926G>A	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.799G>A	X.37:g.70823926G>A	ENSP00000362799:p.Asp267Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.D267N	p.D267N			Q96QF7	ACRC_HUMAN			7	1336	+	Renal(35;0.156)		267			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.799G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962358	0.18583	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.31769	1.48;1.48	0.14	0.14	0.14804	.	.	.	.	.	T	0.11707	0.0285	N	0.19112	0.55	0.09310	N	1	D	0.52996	0.957	B	0.29077	0.098	T	0.22977	-1.0201	9	0.66056	D	0.02	.	2.9227	0.05774	2.0E-4:2.0E-4:0.5081:0.4915	.	267	Q96QF7	ACRC_HUMAN	N	267	ENSP00000362800:D267N;ENSP00000362799:D267N	ENSP00000362799:D267N	D	+	1	0	ACRC	70740651	0.000000	0.05858	0.017000	0.16124	0.017000	0.09413	0.002000	0.13061	0.168000	0.19655	0.169000	0.16792	GAC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			12	1195	0	0	0	1	0	12	1195					A	70823926	G	A	70823926	3	1	111	1	0	0	0	0	1	0	0	0	171	1058	37	1	825	1	ACRC	23	70823926	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08		70823926	84446634	134	36600											
NAP1L2	4674	broad.mit.edu	37	chrX	72434324	72434324	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttgcggttctctgactcgGccatttttcaaaggaccgta	9	12	2	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:72434324G>A	ENST00000373517.3	-	1	360	c.5C>T	c.(4-6)gCc>gTc	p.A2V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	2					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)					CTCTGACTCGGCCATTTTTCA	0.532																																						ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(4-6)gCc>gTc		nucleosome assembly protein 1-like 2							46	53	51					X																	72434324		2139	4033	6172	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72434324G>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.5C>T	X.37:g.72434324G>A	ENSP00000362616:p.Ala2Val					NAP1L2_ENST00000536638.1_Intron	p.A2V	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	360	-	Renal(35;0.156)		2					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.5C>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	g	16.18	3.049801	0.55218	.	.	ENSG00000186462	ENST00000373517	T	0.37584	1.19	3.03	2.16	0.27623	.	0.517494	0.18149	U	0.150154	T	0.20740	0.0499	N	0.19112	0.55	0.80722	D	1	B	0.19445	0.036	B	0.12837	0.008	T	0.06881	-1.0802	10	0.87932	D	0	-3.1541	5.4474	0.16544	0.1624:0.0:0.8376:0.0	.	2	Q9ULW6	NP1L2_HUMAN	V	2	ENSP00000362616:A2V	ENSP00000362616:A2V	A	-	2	0	NAP1L2	72351049	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	2.935000	0.48963	0.660000	0.30964	-0.208000	0.12717	GCC		0.532	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		6	349	0	0	0	1	0	6	349					A	72434324	G	A	72434324	3	1	111	1	0	0	0	0	1	0	0	0	10198	1203	42	2	1381	2	NAP1L2	23	72434324	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	1610398	72434324	82836236	135	36601											
RPS6KA6	27330	broad.mit.edu	37	chrX	83352796	83352796	+	Frame_Shift_Del	DEL	A	A	-													ttacccagccaacattgtgtAaaaaaggactcctaaactcc							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:83352796delA	ENST00000262752.2	-	19	1844	c.1837delT	c.(1837-1839)tacfs	p.Y613fs	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.Y613fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	613	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						AACATTGTGTAAAAAAGGACT	0.303																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1837-1839)acfs		ribosomal protein S6 kinase, 90kDa, polypeptide 6							128	123	125					X																	83352796		2203	4293	6496	SO:0001589	frameshift_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83352796delA	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.1837delT	X.37:g.83352796delA	ENSP00000262752:p.Tyr613fs					RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.Y613fs|RPS6KA6_ENST00000495332.1_5'UTR	p.Y613fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			19	1844	-			613			Protein kinase 2.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Frame_Shift_Del	DEL	ENST00000262752.2	37	c.1837delT	CCDS14451.1																																																																																				0.303	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		8	1234						8	1234	---	---	---	---	-	83352796	A	-	83352796	7	5	111	1	0	1	0	1	0	0	0	0	13705	362	13	0	416	0	RPS6KA6	23	83352796	Frame_Shift_Del	DEL	A	TCGA-S4-A8RO-01A-12D-A377-08	10918472	83352796	71917764	136	36602											
FAM133A	286499	broad.mit.edu	37	chrX	92964906	92964906	+	Nonsense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	tgtaaaaaagaaaaagaagtCaaaggatgaaacagagaaag	10	2	1	4			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:92964906C>G	ENST00000355813.5	+	4	1014	c.488C>G	c.(487-489)tCa>tGa	p.S163*	FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000538690.1_Nonsense_Mutation_p.S163*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	163	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAAGAAGTCAAAGGATGAA	0.363																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(487-489)tCa>tGa		family with sequence similarity 133, member A							25	22	23					X																	92964906		2200	4294	6494	SO:0001587	stop_gained	286499							g.chrX:92964906C>G	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.488C>G	X.37:g.92964906C>G	ENSP00000348067:p.Ser163*					FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000355813.5_Nonsense_Mutation_p.S163*	p.S163*	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	1049	+			163			Lys-rich.|Ser-rich.			Nonsense_Mutation	SNP	ENST00000355813.5	37	c.488C>G	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	c	38	6.748977	0.97809	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	.	.	.	3.0	2.13	0.27403	.	0.239763	0.36409	U	0.002607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.0917	5.3653	0.16111	0.0:0.8372:0.0:0.1628	.	.	.	.	X	163	.	ENSP00000318974:S163X	S	+	2	0	FAM133A	92851562	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.909000	0.28558	0.668000	0.31126	0.597000	0.82753	TCA		0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		25	95	0	0	0	1	0	25	95					G	92964906	C	G	92964906	4	3	111	1	0	0	0	0	0	1	0	0	5464	838	29	5	490	5	FAM133A	23	92964906	Nonsense_Mutation	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	9612110	92964906	62305654	137	36603											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171	156	161					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	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.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		8	1257						8	1257	---	---	---	---	-	108619355	T	-	108619355	7	5	111	1	0	1	0	1	0	0	0	0	6928	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-S4-A8RO-01A-12D-A377-08	15654449	108619355	46651205	138	36604											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				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						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	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.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		13	754						13	754	---	---	---	---	-	110406208	GAA	-	110406206	7	5	111	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-S4-A8RO-01A-12D-A377-08	1786851	110406206	44864354	139	36605											
DCX	1641	broad.mit.edu	37	chrX	110644391	110644391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggtaaccagcttggggcGcacaaagtccttgttctccc	11	12	1	0			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX). {ECO:0000269|PubMed:12390976}.|R -> L (in SBHX).		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)	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537																																						ENST00000338081.3																			2	Substitution - Missense(2)	p.R178C(1)|p.R259C(1)	kidney(2)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41	GRCh37	CM023910	DCX	M		c.(775-777)Cgc>Tgc		doublecortin							128	105	113					X																	110644391		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644391G>A	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.775C>T	X.37:g.110644391G>A	ENSP00000337697:p.Arg259Cys					DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C	p.R259C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	946	-			259		R -> C (in SBHX).|R -> L (in SBHX).			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.775C>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	DCX	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC		0.537	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		5	439	0	0	0	1	0	5	439					A	110644391	G	A	110644391	3	1	111	1	0	0	0	0	1	0	0	0	4329	1087	38	1	585	1	DCX	23	110644391	Missense_Mutation	SNP	G	TCGA-S4-A8RO-01A-12D-A377-08	238185	110644391	44626169	140	36606											
BCORL1	63035	broad.mit.edu	37	chrX	129190051	129190051	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actgtggagctggtgcggtaCgagccagacctacttcggct	14	11	0	1			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:129190051C>T	ENST00000218147.7	+	13	5273	c.5076C>T	c.(5074-5076)taC>taT	p.Y1692Y	BCORL1_ENST00000540052.1_Silent_p.Y1692Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1692					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGTGCGGTACGAGCCAGACC	0.607																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5074-5076)taC>taT		BCL6 corepressor-like 1							39	38	38					X																	129190051		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129190051C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.5076C>T	X.37:g.129190051C>T						BCORL1_ENST00000218147.7_Silent_p.Y1692Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y	p.Y1692Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5120	+			1692					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.5076C>T	CCDS14616.1																																																																																				0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		95	189	0	0	0	1	0	95	189					T	129190051	C	T	129190051	2	4	111	1	0	0	0	0	0	0	0	1	1388	547	19	1		1	BCORL1	23	129190051	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	18545660	129190051	26080509	141	36607											
GDI1	2664	broad.mit.edu	37	chrX	153670920	153670920	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cactttgagacaacctgcaaCgacatcaaagacatctacaa	5	12	2	2	rs76578139		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:153670920C>T	ENST00000447750.2	+	11	1580	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	415					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACCTGCAACGACATCAAAG	0.522													C|||	1	0.000264901	0.0	0.0	3775	,	,		15357	0.001		0.0	False		,,,				2504	0.0					ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(1243-1245)aaC>aaT		GDP dissociation inhibitor 1							173	134	147					X																	153670920		2203	4300	6503	SO:0001819	synonymous_variant	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153670920C>T	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.1245C>T	X.37:g.153670920C>T						GDI1_ENST00000465640.1_3'UTR	p.N415N	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			11	1580	+	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)		415					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Silent	SNP	ENST00000447750.2	37	c.1245C>T	CCDS35452.1																																																																																				0.522	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		302	259	0	0	0	1	0	302	259					T	153670920	C	T	153670920	2	4	111	1	0	0	0	0	0	0	0	1	6349	535	19	1		1	GDI1	23	153670920	Silent	SNP	C	TCGA-S4-A8RO-01A-12D-A377-08	24480869	153670920	1599640	142	36608											
F8	2157	broad.mit.edu	37	chrX	154158427	154158428	+	Frame_Shift_Ins	INS	-	-	T													cttttctatttcttcctgaaINStttttttttcttgattgtgt					rs387906450		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:154158427_154158428insT	ENST00000360256.4	-	14	3837_3838	c.3637_3638insA	c.(3637-3639)attfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTCCTGAATTTTTTTTTCT	0.327																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD930955|CI962274	F8	D|I		c.(3637-3639)tcafs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158427_154158428insT	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.3638dupA	X.37:g.154158436_154158436dupT	ENSP00000353393:p.Ile1213fs						p.S1213fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3837_3838	-	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)		1213			B.		Q14286|Q5HY69	Frame_Shift_Ins	INS	ENST00000360256.4	37	c.3637_3638insA	CCDS35457.1																																																																																				0.327	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			10	367						10	367	---	---	---	---	T	154158428	-	T	154158427	7	5	111	1	0	1	1	0	0	0	0	0	5368	101	4	0	3497	0	F8	23	154158427	Frame_Shift_Ins	INS	-	TCGA-S4-A8RO-01A-12D-A377-08	487507	154158427	1112133	143	36609											
TAS1R1	80835	broad.mit.edu	37	chr1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accacctcttccaggctatgCggcttggggttgaggagata	13	10	1	2	rs199550568	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:6631015C>T	ENST00000333172.6	+	2	431	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	80					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)		CCAGGCTATGCGGCTTGGGGT	0.532													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20054	0.0		0.0	False		,,,				2504	0.001					ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(238-240)Cgg>Tgg		taste receptor, type 1, member 1		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	124	128		238,238	1.7	0.9	1		128	0,8600		0,0,4300	no	missense,missense	TAS1R1	NM_138697.3,NM_177540.2	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/842,80/588	6631015	1,13005	2203	4300	6503	SO:0001583	missense	0				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6631015C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.238C>T	1.37:g.6631015C>T	ENSP00000331867:p.Arg80Trp					TAS1R1_ENST00000351136.3_Missense_Mutation_p.R80W|TAS1R1_ENST00000328191.4_Missense_Mutation_p.R80W	p.R80W	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	2	431	+	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)	80					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.238C>T	CCDS81.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.31	2.496650	0.44352	2.27E-4	0.0	ENSG00000173662	ENST00000333172;ENST00000328191;ENST00000437392;ENST00000351136	D;D;D	0.83992	-1.79;-1.79;-1.79	5.08	1.71	0.24356	Extracellular ligand-binding receptor (1);	0.129993	0.49916	D	0.000139	D	0.90546	0.7037	M	0.85041	2.73	0.36559	D	0.872319	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;P;D	0.91635	0.999;0.992;0.897;0.999	D	0.92403	0.5931	10	0.66056	D	0.02	.	12.478	0.55825	0.5223:0.4777:0.0:0.0	.	80;80;80;80	Q7RTX1-3;Q7RTX1-4;Q7RTX1-2;Q7RTX1	.;.;.;TS1R1_HUMAN	W	80;80;2;80	ENSP00000331867:R80W;ENSP00000327705:R80W;ENSP00000312558:R80W	ENSP00000327705:R80W	R	+	1	2	TAS1R1	6553602	0.584000	0.26766	0.906000	0.35671	0.335000	0.28730	0.314000	0.19432	0.497000	0.27926	-0.158000	0.13435	CGG		0.532	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			5	486	0	0	0	1	0	5	486					T	6631015	C	T	6631015	3	4	112	1	0	0	0	0	1	0	0	0	15614	759	27	1	244	1	TAS1R1	1	6631015	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		6631015	242619606	1	36610											
H6PD	9563	broad.mit.edu	37	chr1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccatatcttccatggccGgaagaatttcttcatcacca	5	13	4	1	rs113495544	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCATGGCCGGAAGAATTTC	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		19050	0.002		0.0	False		,,,				2504	0.001					ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1405-1407)cGg>cAg		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90	103	98		1406	3.7	0.5	1	dbSNP_132	98	0,8600		0,0,4300	yes	missense	H6PD	NM_004285.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	469/792	9323958	1,13005	2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323958G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1406G>A	1.37:g.9323958G>A	ENSP00000366620:p.Arg469Gln					H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	p.R469Q	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1708	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	469			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1406G>A	CCDS101.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.147	1.015316	0.19355	2.27E-4	0.0	ENSG00000049239	ENST00000377403	D	0.98207	-4.79	5.53	3.65	0.41850	.	0.309965	0.34002	N	0.004350	D	0.94305	0.8170	L	0.38175	1.15	0.33590	D	0.60101	B	0.30741	0.293	B	0.15052	0.012	D	0.94300	0.7536	10	0.28530	T	0.3	-23.6496	8.8895	0.35425	0.2291:0.0:0.7709:0.0	.	469	O95479	G6PE_HUMAN	Q	469	ENSP00000366620:R469Q	ENSP00000366620:R469Q	R	+	2	0	H6PD	9246545	0.961000	0.32948	0.509000	0.27700	0.417000	0.31264	1.618000	0.36954	1.339000	0.45563	0.561000	0.74099	CGG		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		10	749	0	0	0	1	0	10	749					A	9323958	G	A	9323958	3	1	112	1	0	0	0	0	1	0	0	0	6966	1116	39	1	1420	1	H6PD	1	9323958	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2692943	9323958	239926663	2	36611											
CLCN6	1185	broad.mit.edu	37	chr1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatgctatctgaatggcGtaaaggtgccaggaatcgtc	11	8	2	1	rs199676414	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	169					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)		TCTGAATGGCGTAAAGGTGCC	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		20245	0.002		0.0	False		,,,				2504	0.0					ENST00000346436.6																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36						c.(505-507)Gta>Ata		chloride channel, voltage-sensitive 6							128	110	116					1																	11883815		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11883815G>A	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.505G>A	1.37:g.11883815G>A	ENSP00000234488:p.Val169Ile					CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I	p.V169I	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	557	+	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)	169					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.505G>A	CCDS138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.13	3.555826	0.65425	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.97	5.97	0.96955	Chloride channel, core (2);	0.053524	0.85682	D	0.000000	D	0.89100	0.6619	N	0.25647	0.755	0.58432	D	0.99999	B;B;P;P;B	0.48503	0.105;0.442;0.911;0.823;0.128	B;B;B;B;B	0.36989	0.016;0.098;0.238;0.181;0.027	D	0.87899	0.2689	10	0.21014	T	0.42	-32.7531	17.5798	0.87963	0.0:0.0:1.0:0.0	.	147;169;169;169;169	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	169;169;147;169;169;169;169	ENSP00000308367:V169I;ENSP00000234488:V169I;ENSP00000365670:V147I;ENSP00000365679:V169I	ENSP00000308367:V169I	V	+	1	0	CLCN6	11806402	1.000000	0.71417	0.979000	0.43373	0.847000	0.48162	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTA		0.552	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		4	294	0	0	0	1	0	4	294					A	11883815	G	A	11883815	3	1	112	1	0	0	0	0	1	0	0	0	3476	1145	40	1	531	1	CLCN6	1	11883815	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2559857	11883815	237366806	3	36612											
EPHB2	2048	broad.mit.edu	37	chr1	23110922	23110922	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctacgatgagaacatgaacaCgatccgcacgtaccaggtgt	10	11	0	2	rs202156735		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:23110922C>T	ENST00000400191.3	+	3	182	c.164C>T	c.(163-165)aCg>aTg	p.T55M	EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M|EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	55	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)		AACATGAACACGATCCGCACG	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21668	0.0		0.0	False		,,,				2504	0.0					ENST00000400191.3																			0				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						c.(163-165)aCg>aTg		EPH receptor B2							105	88	93					1																	23110922		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110922C>T	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.164C>T	1.37:g.23110922C>T	ENSP00000383053:p.Thr55Met					EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M|EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M	p.T55M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		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)	3	182	+		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)	55					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.164C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.9	4.346203	0.82022	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03689	3.84;3.84;3.84;3.84;3.84	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.66939	2.045	0.80722	D	1	P;D;D;D	0.89917	0.913;1.0;1.0;1.0	B;D;D;D	0.76575	0.369;0.988;0.988;0.969	T	0.00034	-1.2266	10	0.72032	D	0.01	.	17.4346	0.87548	0.0:1.0:0.0:0.0	.	55;55;73;55	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	55;55;55;55;55;49	ENSP00000444174:T55M;ENSP00000363761:T55M;ENSP00000383053:T55M;ENSP00000363763:T55M;ENSP00000363758:T49M	ENSP00000363755:T55M	T	+	2	0	EPHB2	22983509	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.590000	0.82653	2.704000	0.92352	0.484000	0.47621	ACG		0.572	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		12	157	0	0	0	1	0	12	157					T	23110922	C	T	23110922	3	4	112	1	0	0	0	0	1	0	0	0	5193	536	19	1	174	1	EPHB2	1	23110922	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11227107	23110922	226139699	4	36613											
ADC	113451	broad.mit.edu	37	chr1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C													gggttcccccttttgggggaINScccaggcctgccacatcacc					rs576544248		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)accfs	p.T401fs	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.T401fs	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		401					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTTTTGGGGGACCCAGGCCTGC	0.624																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1201-1203)ccafs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583674_33583675insC																												ENST00000294517.6:c.1204dupC	1.37:g.33583677_33583677dupC	ENSP00000294517:p.Thr401fs					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	p.P401fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1788_1789	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	401					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1201_1202insC	CCDS375.1																																																																																				0.624	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			7	666						7	666	---	---	---	---	C	33583675	-	C	33583674	7	5	112	1	0	1	1	0	0	0	0	0	287	275	10	0	1231	0	ADC	1	33583674	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	10472752	33583674	215666947	5	36614											
ZMYM4	9202	broad.mit.edu	37	chr1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A													gtttgtcaacatatgaactgINSaaaaaaaaacctattgttac							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					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)				CATATGAACTGAAAAAAAAACC	0.342																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1279-1284)ctaaaafs		zinc finger, MYM-type 4																																				SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35846959_35846960insA	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.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs					ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1361_1362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	427					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	ENST00000314607.6	37	c.1281_1282insA	CCDS389.1																																																																																				0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		9	538						9	538	---	---	---	---	A	35846960	-	A	35846959	7	5	112	1	0	1	1	0	0	0	0	0	17755	1277	45	0	1311	0	ZMYM4	1	35846959	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	2263285	35846959	213403662	6	36615											
CSF3R	1441	broad.mit.edu	37	chr1	36933510	36933510	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggatgtgatacagactggCgggctccaggccatggagga	17	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:36933510C>T	ENST00000373106.1	-	14	2324	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T|CSF3R_ENST00000373103.1_Missense_Mutation_p.A593T|CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	593	Fibronectin type-III 5. {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)	TACAGACTGGCGGGCTCCAGG	0.617																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1777-1779)Gcc>Acc		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						53	64	60					1																	36933510		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36933510C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1777G>A	1.37:g.36933510C>T	ENSP00000362198:p.Ala593Thr					CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T|CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000373106.1_Missense_Mutation_p.A593T|CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T	p.A593T	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			14	2324	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	593			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000373106.1	37	c.1777G>A	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	6.595	0.478114	0.12521	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.33	1.81	0.25067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.744296	0.13828	N	0.359956	T	0.35740	0.0942	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B;P	0.40398	0.469;0.716;0.002;0.469;0.286;0.534	B;B;B;B;B;B	0.32149	0.085;0.141;0.002;0.085;0.034;0.059	T	0.11446	-1.0587	10	0.19590	T	0.45	-9.9329	7.0017	0.24813	0.4645:0.4454:0.0:0.0901	.	593;593;593;593;593;593	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.;.;.;CSF3R_HUMAN;.;.	T	593	ENSP00000362198:A593T;ENSP00000362196:A593T;ENSP00000362195:A593T;ENSP00000355406:A593T;ENSP00000332180:A593T;ENSP00000401588:A593T;ENSP00000345013:A593T;ENSP00000397568:A593T	ENSP00000332180:A593T	A	-	1	0	CSF3R	36706097	0.002000	0.14202	0.616000	0.29078	0.024000	0.10985	0.204000	0.17335	0.573000	0.29400	0.655000	0.94253	GCC		0.617	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		5	434	0	0	0	1	0	5	434					T	36933510	C	T	36933510	3	4	112	1	0	0	0	0	1	0	0	0	3948	768	27	1	939	1	CSF3R	1	36933510	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1086551	36933510	212317111	7	36616											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|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)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	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.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		9	635						9	635	---	---	---	---	-	38166151	GAA	-	38166149	7	5	112	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-US-A776-01A-13D-A33T-08	1232639	38166149	211084472	8	36617											
IPO13	9670	broad.mit.edu	37	chr1	44425920	44425922	+	Splice_Site	DEL	GGT	GGT	-													cacttcttcctgtgccttcaGgtggtggtggtgctgcagca							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:44425920_44425922delGGT	ENST00000372343.3	+	12	2690_2692	c.2028_2030delGGT	c.(2026-2031)ccggtg>ccg	p.V680del		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	680					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGCCTTCAGGTGGTGGTGGTG	0.562																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e12-1		importin 13																																				SO:0001630	splice_region_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425920_44425922delGGT	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2029-1GGT>-	1.37:g.44425929_44425931delGGT							p.P676_splice	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			12	2690_2692	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	676					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Splice_Site	DEL	ENST00000372343.3	37	c.2028_splice	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652	In_Frame_Del	8	1744						8	1744	---	---	---	---	-	44425922	GGT	-	44425920	8	5	112	1	0	1	0	1	0	0	1	0	7824	1014	35	0	2074	0	IPO13	1	44425920	Splice_Site	DEL	GGT	TCGA-US-A776-01A-13D-A33T-08	6259771	44425920	204824701	9	36618											
PTCH2	8643	broad.mit.edu	37	chr1	45297975	45297975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctcctcccccagcttctCcttggtgtaatgcagctcct	7	17	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:45297975C>T	ENST00000372192.3	-	3	434	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PTCH2_ENST00000447098.2_Missense_Mutation_p.E102K	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	102					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)					CCCAGCTTCTCCTTGGTGTAA	0.602									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				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						c.(304-306)Gag>Aag		patched 2							188	175	180					1																	45297975		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45297975C>T	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.304G>A	1.37:g.45297975C>T	ENSP00000361266:p.Glu102Lys					PTCH2_ENST00000372192.3_Missense_Mutation_p.E102K	p.E102K	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			3	315	-	Acute lymphoblastic leukemia(166;0.155)		102					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.304G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147753	0.57151	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92911	-3.12;-3.13	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000175	D	0.90113	0.6911	L	0.31294	0.92	0.51233	D	0.999915	P	0.51537	0.946	P	0.55161	0.77	D	0.86497	0.1801	10	0.06099	T	0.92	-0.1502	16.5237	0.84324	0.0:1.0:0.0:0.0	.	102	Q9Y6C5	PTC2_HUMAN	K	102	ENSP00000389703:E102K;ENSP00000361266:E102K	ENSP00000361266:E102K	E	-	1	0	PTCH2	45070562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.516000	0.53436	2.425000	0.82216	0.561000	0.74099	GAG		0.602	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		10	1317	0	0	0	1	0	10	1317					T	45297975	C	T	45297975	3	4	112	1	0	0	0	0	1	0	0	0	12778	864	30	2	3407	2	PTCH2	1	45297975	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	872055	45297975	203952646	10	36619											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		18	446						18	446	---	---	---	---	-	46184898	AC	-	46184897	7	5	112	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-US-A776-01A-13D-A33T-08	886922	46184897	203065724	11	36620											
CYP4B1	1580	broad.mit.edu	37	chr1	47284367	47284367	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcacagccatgtgcttgctcCgctttgagttctctctggac	9	13	3	1	rs138678209		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:47284367C>T	ENST00000271153.4	+	12	1453	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	473					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)	GTGCTTGCTCCGCTTTGAGTT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20812	0.0		0.0	False		,,,				2504	0.0					ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1417-1419)Cgc>Tgc		cytochrome P450, family 4, subfamily B, polypeptide 1		C	CYS/ARG,CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	179	151	161		1417,1420	3.9	0.4	1	dbSNP_134	161	0,8600		0,0,4300	yes	missense,missense	CYP4B1	NM_000779.3,NM_001099772.1	180,180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging,possibly-damaging	473/512,474/513	47284367	4,13002	2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47284367C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"Cytochrome P450s"	2644	protein-coding gene	gene with protein product		124075	"cytochrome P450, subfamily IVB, polypeptide 1"				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1417C>T	1.37:g.47284367C>T	ENSP00000271153:p.Arg473Cys					CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C	p.R473C			P13584	CP4B1_HUMAN			12	1453	+	Acute lymphoblastic leukemia(166;0.155)		473					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1417C>T	CCDS542.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.04	1.818235	0.32145	9.08E-4	0.0	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.8	3.93	0.45458	.	0.266510	0.42053	D	0.000771	T	0.81422	0.4819	M	0.79258	2.445	0.23266	N	0.998011	D;P;P	0.76494	0.999;0.791;0.826	D;B;P	0.64877	0.93;0.432;0.568	T	0.73418	-0.3989	9	.	.	.	.	11.5076	0.50476	0.1254:0.8094:0.0:0.0652	.	459;474;473	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	474;473;459;311	ENSP00000360991:R474C;ENSP00000271153:R473C;ENSP00000360987:R459C;ENSP00000400413:R311C	.	R	+	1	0	CYP4B1	47056954	0.154000	0.22792	0.437000	0.26809	0.002000	0.02628	1.217000	0.32455	0.801000	0.34066	-0.152000	0.13540	CGC		0.557	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		377	325	0	0	0	1	0	377	325					T	47284367	C	T	47284367	3	4	112	1	0	0	0	0	1	0	0	0	4196	652	23	1	1466	1	CYP4B1	1	47284367	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1099470	47284367	201966254	12	36621											
PARS2	25973	broad.mit.edu	37	chr1	55223794	55223794	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	acttcaatggcagcagccaaGatccgtgtcacacccaagcc	8	15	2	1	rs547116468		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:55223794G>A	ENST00000371279.3	-	2	1123	c.1041C>T	c.(1039-1041)atC>atT	p.I347I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	347					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCCAAGATCCGTGTCA	0.542																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(1039-1041)atC>atT		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						78	84	82					1																	55223794		2203	4300	6503	SO:0001819	synonymous_variant	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55223794G>A	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.1041C>T	1.37:g.55223794G>A							p.I347I	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	1123	-			347					A8K0W4|Q9H6S5|Q9UFT1	Silent	SNP	ENST00000371279.3	37	c.1041C>T	CCDS597.1																																																																																				0.542	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		347	313	0	0	0	1	0	347	313					A	55223794	G	A	55223794	2	1	112	1	0	0	0	0	0	0	0	1	11509	932	33	2		2	PARS2	1	55223794	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7939427	55223794	194026827	13	36622											
C8A	731	broad.mit.edu	37	chr1	57333282	57333282	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggatcttccctttctttagGagagtaagacgggcagctac	11	9	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57333282G>A	ENST00000361249.3	+	2	174	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	26					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						CTTTCTTTAGGAGAGTAAGAC	0.458																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.e2-1		complement component 8, alpha polypeptide							57	53	54					1																	57333282		2203	4300	6503	SO:0001630	splice_region_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57333282G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.78-1G>A	1.37:g.57333282G>A							p.Q26_splice	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			2	174	+			26					A2RUI4|A2RUI5|Q13668|Q9H130	Splice_Site	SNP	ENST00000361249.3	37	c.77_splice	CCDS606.1																																																																																				0.458	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	Silent	53	299	0	0	0	1	0	53	299					A	57333282	G	A	57333282	5	1	112	1	0	0	0	0	0	0	1	0	2423	1188	41	2	84	2	C8A	1	57333282	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2109488	57333282	191917339	14	36623											
C8A	731	broad.mit.edu	37	chr1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggggcctcgtgtccagggcGgaaagtacagacgcaggctt	16	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	577	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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						TGTCCAGGGCGGAAAGTACAG	0.557																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(1729-1731)cGg>cAg		complement component 8, alpha polypeptide							55	55	55					1																	57383364		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57383364G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1730G>A	1.37:g.57383364G>A	ENSP00000354458:p.Arg577Gln						p.R577Q	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			11	1826	+			577			TSP type-1 2.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.1730G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063564	0.36373	.	.	ENSG00000157131	ENST00000361249	T	0.52057	0.68	4.82	-6.34	0.01982	.	1.636630	0.02956	N	0.142483	T	0.24736	0.0600	N	0.16478	0.41	0.09310	N	1	P	0.46220	0.874	B	0.35688	0.208	T	0.29882	-0.9997	10	0.21014	T	0.42	0.9078	8.9304	0.35666	0.4956:0.1035:0.4009:0.0	.	577	P07357	CO8A_HUMAN	Q	577	ENSP00000354458:R577Q	ENSP00000354458:R577Q	R	+	2	0	C8A	57155952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.804000	0.01738	-1.030000	0.03312	-0.251000	0.11542	CGG		0.557	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		10	325	0	0	0	1	0	10	325					A	57383364	G	A	57383364	3	1	112	1	0	0	0	0	1	0	0	0	2423	1116	39	1	1772	1	C8A	1	57383364	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	50082	57383364	191867257	15	36624											
TNNI3K	100144878	broad.mit.edu	37	chr1	74957824	74957826	+	Intron	DEL	CTT	CTT	-													cagcagtgggtctctctcacCttcttcttcttctgattgcc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:74957824_74957826delCTT	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_In_Frame_Del_p.S860del|TNNI3K_ENST00000370891.2_In_Frame_Del_p.S847del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.S746del			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						TCTCTCTCACCTTCTTCTTCTTC	0.473																																						ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2527-2532)cct>c		TNNI3 interacting kinase			,	16,4250		8,0,2125					,	5.6	1			204	28,8226		13,2,4112	no	coding,coding	TNNI3K,FPGT-TNNI3K	NM_015978.2,NM_001112808.2	,	21,2,6237	A1A1,A1R,RR		0.3392,0.3751,0.3514	,	,		44,12476				SO:0001627	intron_variant	51086							g.chr1:74957824_74957826delCTT			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8765AAG>-	1.37:g.74957833_74957835delCTT						TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|LRRC53_ENST00000294635.4_Intron	p.PS843del	NM_001112808.2	NP_001106279.1					25	2544_2546	+									In_Frame_Del	DEL	ENST00000294635.4	37	c.2528_2530delCTT																																																																																					0.473	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			12	1246						12	1246	---	---	---	---	-	74957826	CTT	-	74957824	6	5	112	0	1	1	0	1	0	0	0	0	16381	681	24	0		0	TNNI3K	1	74957824	Intron	DEL	CTT	TCGA-US-A776-01A-13D-A33T-08	17574460	74957824	174292797	16	36625											
LRRC8D	55144	broad.mit.edu	37	chr1	90399492	90399492	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcaggccaaagccctgtttGagaaagtgaggaagttccgt	13	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:90399492G>A	ENST00000337338.5	+	3	1272	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	289					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGCCCTGTTTGAGAAAGTGAG	0.408																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(865-867)Gag>Aag		leucine rich repeat containing 8 family, member D							42	42	42					1																	90399492		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90399492G>A	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.865G>A	1.37:g.90399492G>A	ENSP00000338887:p.Glu289Lys					LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	p.E289K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1272	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	289					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.865G>A	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419386	0.83559	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.43688	0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60596	-0.7232	9	.	.	.	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	289	Q7L1W4	LRC8D_HUMAN	K	289	ENSP00000338887:E289K;ENSP00000378093:E289K	.	E	+	1	0	LRRC8D	90172080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	GAG		0.408	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		24	173	0	0	0	1	0	24	173					A	90399492	G	A	90399492	3	1	112	1	0	0	0	0	1	0	0	0	9062	1291	45	2	867	2	LRRC8D	1	90399492	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	15441668	90399492	158851129	17	36626											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				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)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				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						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	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.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		10	580						10	580	---	---	---	---	-	92447230	AGC	-	92447228	7	5	112	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-US-A776-01A-13D-A33T-08	2047736	92447228	156803393	18	36627											
CCDC18	343099	broad.mit.edu	37	chr1	93672863	93672863	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aattaaaggtccgtgttgcaGcacagaatgagcgactagat	11	7	0	3	rs370124179		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:93672863G>A	ENST00000343253.7	+	9	1619	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	CCDC18_ENST00000338949.4_Missense_Mutation_p.A172T|CCDC18_ENST00000401026.3_Missense_Mutation_p.A373T|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.A491T			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	373										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)		CCGTGTTGCAGCACAGAATGA	0.343																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1117-1119)Gca>Aca		coiled-coil domain containing 18							80	75	77					1																	93672863		1840	4095	5935	SO:0001583	missense	343099							g.chr1:93672863G>A			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.1117G>A	1.37:g.93672863G>A	ENSP00000343377:p.Ala373Thr					CCDC18_ENST00000401026.3_Missense_Mutation_p.A373T|CCDC18_ENST00000338949.4_Missense_Mutation_p.A172T|CCDC18_ENST00000557479.1_Missense_Mutation_p.A491T|CCDC18_ENST00000334652.5_5'UTR	p.A373T			Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	9	1619	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	373					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.1117G>A		.	.	.	.	.	.	.	.	.	.	G	5.483	0.274139	0.10403	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.83	-2.1	0.07210	.	0.682955	0.15416	N	0.263495	T	0.02047	0.0064	N	0.03115	-0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42447	-0.9451	10	0.25106	T	0.35	.	4.4523	0.11626	0.2998:0.1308:0.4552:0.1142	.	373;491	Q5T9S5;G3V388	CCD18_HUMAN;.	T	373;373;491;172;93	ENSP00000343377:A373T;ENSP00000383808:A373T;ENSP00000451099:A491T;ENSP00000344380:A172T;ENSP00000391151:A93T	ENSP00000344380:A172T	A	+	1	0	CCDC18	93445451	0.853000	0.29707	0.953000	0.39169	0.831000	0.47069	-0.190000	0.09615	-0.659000	0.05359	-0.378000	0.06908	GCA		0.343	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		5	410	0	0	0	1	0	5	410					A	93672863	G	A	93672863	3	1	112	1	0	0	0	0	1	0	0	0	2801	971	34	2	1505	2	CCDC18	1	93672863	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1225635	93672863	155577758	19	36628											
KCND3	3752	broad.mit.edu	37	chr1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G													ccgcaggccctgggagtggcINSgggaaaacttgaagatcctg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:112524444_112524445insG	ENST00000315987.2	-	2	1383_1384	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000369697.1_Frame_Shift_Ins_p.R302fs	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGGGAGTGGCGGGAAAACTTG	0.579																																						ENST00000369697.1																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49						c.(904-906)ccafs		potassium voltage-gated channel, Shal-related subfamily, member 3																																				SO:0001589	frameshift_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524444_112524445insG	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.905dupC	1.37:g.112524447_112524447dupG	ENSP00000319591:p.Arg302fs					KCND3_ENST00000315987.2_Frame_Shift_Ins_p.P302fs|KCND3_ENST00000302127.4_Frame_Shift_Ins_p.P302fs	p.P302fs			Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	1	973_974	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	302					O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Frame_Shift_Ins	INS	ENST00000315987.2	37	c.904_905insC	CCDS843.1																																																																																				0.579	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		7	493						7	493	---	---	---	---	G	112524445	-	G	112524444	7	5	112	1	0	1	1	0	0	0	0	0	8050	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	18851581	112524444	136726177	20	36629											
CASQ2	845	broad.mit.edu	37	chr1	116247905	116247905	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tttcaggatctccaggaattCgtagccatctgaaacaggat	9	9	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:116247905C>T	ENST00000261448.5	-	9	1086	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	283					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)		TCCAGGAATTCGTAGCCATCT	0.502																																						ENST00000261448.5																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(847-849)Gaa>Aaa		calsequestrin 2 (cardiac muscle)							104	100	101					1																	116247905		2203	4300	6503	SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116247905C>T	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.847G>A	1.37:g.116247905C>T	ENSP00000261448:p.Glu283Lys					CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	p.E283K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	9	1086	-	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)	283					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	SNP	ENST00000261448.5	37	c.847G>A	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228076	0.95173	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.79033	-1.23;-1.23	5.58	5.58	0.84498	Thioredoxin-like fold (2);	0.047801	0.85682	D	0.000000	D	0.84929	0.5581	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.964	T	0.80841	-0.1202	10	0.20046	T	0.44	-37.1912	19.1719	0.93581	0.0:1.0:0.0:0.0	.	212;283	B4DIB0;O14958	.;CASQ2_HUMAN	K	283;212;237	ENSP00000261448:E283K;ENSP00000403858:E212K	ENSP00000261448:E283K	E	-	1	0	CASQ2	116049428	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.481000	0.81124	2.632000	0.89209	0.655000	0.94253	GAA		0.502	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		39	200	0	0	0	1	0	39	200					T	116247905	C	T	116247905	3	4	112	1	0	0	0	0	1	0	0	0	2688	893	31	1	364	1	CASQ2	1	116247905	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3723461	116247905	133002716	21	36630											
FLG2	388698	broad.mit.edu	37	chr1	152326576	152326576	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtctcccatgaactgtggatCctgactctacttgttgagat	9	10	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152326576C>A	ENST00000388718.5	-	3	3758	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1229	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)			AACTGTGGATCCTGACTCTAC	0.483																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3685-3687)gGa>gTa		filaggrin family member 2							177	170	172					1																	152326576		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326576C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3686G>T	1.37:g.152326576C>A	ENSP00000373370:p.Gly1229Val					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G1229V	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3758	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1229			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3686G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928345	0.18131	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	3.52	-0.287	0.12858	.	.	.	.	.	T	0.03651	0.0104	M	0.72118	2.19	0.09310	N	1	P	0.38827	0.649	B	0.30855	0.121	T	0.34079	-0.9843	9	0.39692	T	0.17	1.501	2.0759	0.03624	0.182:0.4018:0.2961:0.1201	.	1229	Q5D862	FILA2_HUMAN	V	1229	ENSP00000373370:G1229V	ENSP00000373370:G1229V	G	-	2	0	FLG2	150593200	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-1.119000	0.03276	-0.341000	0.08376	0.306000	0.20318	GGA		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		21	805	1	0	7.45023e-12	1	7.772e-12	21	805					A	152326576	C	A	152326576	3	1	112	1	0	0	0	0	1	0	0	0	5948	855	30	3	3493	3	FLG2	1	152326576	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	36078671	152326576	96924045	22	36631											
NUP210L	91181	broad.mit.edu	37	chr1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggccaagagatttagctgCgatatgtgtactggaacaat	11	6	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622					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)			GATTTAGCTGCGATATGTGTA	0.443																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1864-1866)Gca>Aca		nucleoporin 210kDa-like							187	175	178					1																	154072575		1937	4152	6089	SO:0001583	missense	91181					integral to membrane		g.chr1:154072575C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1864G>A	1.37:g.154072575C>T	ENSP00000357547:p.Ala622Thr					NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	1935	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		622					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1864G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA		0.443	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		143	633	0	0	0	1	0	143	633					T	154072575	C	T	154072575	3	4	112	1	0	0	0	0	1	0	0	0	10803	768	27	1	3910	1	NUP210L	1	154072575	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1745999	154072575	95178046	23	36632											
RIT1	6016	broad.mit.edu	37	chr1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-													ttagcctcttccatacactgTttttgggcttagattttttc					rs372170139		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)aacfs	p.N201fs	RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413																																						ENST00000368323.3																			0				breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19						c.(601-603)acfs		Ras-like without CAAX 1							302	310	308					1																	155870237		2203	4300	6503	SO:0001589	frameshift_variant	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155870237delT	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.602delA	1.37:g.155870237delT	ENSP00000357306:p.Asn201fs					RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	p.N201fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		6	806	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		201					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Frame_Shift_Del	DEL	ENST00000368323.3	37	c.602delA	CCDS1123.1																																																																																				0.413	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		7	1818						7	1818	---	---	---	---	-	155870237	T	-	155870237	7	5	112	1	0	1	0	1	0	0	0	0	13436	1725	60	0	61	0	RIT1	1	155870237	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	1797662	155870237	93380384	24	36633											
PAQR6	79957	broad.mit.edu	37	chr1	156215327	156215327	+	Splice_Site	DEL	G	G	-													gaggggcctgggaacccaccGggagtagcaggagaggccgg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156215327delG	ENST00000292291.5	-	5	669	c.511delC	c.(511-513)cgt>gt	p.R171fs	PAQR6_ENST00000356983.2_Splice_Site_p.R65fs|PAQR6_ENST00000368270.1_Splice_Site_p.R147fs|PAQR6_ENST00000335852.1_Splice_Site_p.R65fs|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Splice_Site_p.R168fs	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	171						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GGAACCCACCGGGAGTAGCAG	0.662																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.e4+1		progestin and adipoQ receptor family member VI							34	39	37					1																	156215327		2192	4282	6474	SO:0001630	splice_region_variant	79957					integral to membrane	receptor activity	g.chr1:156215327delG	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.512+1C>-	1.37:g.156215327delG						PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Splice_Site_p.R65_splice|PAQR6_ENST00000368270.1_Splice_Site_p.R147_splice|PAQR6_ENST00000292291.5_Splice_Site_p.R171_splice|PAQR6_ENST00000360733.2_Splice_Site_p.R65_splice|PAQR6_ENST00000540423.1_Splice_Site_p.R168_splice	p.R65_splice	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			4	808	-	Hepatocellular(266;0.158)		171					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Splice_Site	DEL	ENST00000292291.5	37	c.194_splice	CCDS1136.1																																																																																				0.662	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897	Frame_Shift_Del	138	242						138	242	---	---	---	---	-	156215327	G	-	156215327	8	5	112	1	0	1	0	1	0	0	1	0	11481	1130	39	0	878	0	PAQR6	1	156215327	Splice_Site	DEL	G	TCGA-US-A776-01A-13D-A33T-08	345090	156215327	93035294	25	36634											
PEAR1	375033	broad.mit.edu	37	chr1	156877507	156877507	+	Frame_Shift_Del	DEL	C	C	-													ccacagggctcctgcagctgCccccctggctggatggtatg					rs77456537		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156877507delC	ENST00000338302.3	+	8	975	c.750delC	c.(748-750)tgcfs	p.C250fs	PEAR1_ENST00000292357.7_Frame_Shift_Del_p.C250fs			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	250	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCAGCTGCCCCCCTGGCT	0.612																																						ENST00000338302.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43						c.(748-750)tgfs		platelet endothelial aggregation receptor 1							87	97	93					1																	156877507		2203	4300	6503	SO:0001589	frameshift_variant	375033					integral to membrane		g.chr1:156877507delC	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.750delC	1.37:g.156877507delC	ENSP00000344465:p.Cys250fs					PEAR1_ENST00000292357.7_Frame_Shift_Del_p.C250fs	p.C250fs			Q5VY43	PEAR1_HUMAN			8	975	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		250			EGF-like 2.		Q8TEK2	Frame_Shift_Del	DEL	ENST00000338302.3	37	c.750delC	CCDS30892.1																																																																																				0.612	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		7	1204						7	1204	---	---	---	---	-	156877507	C	-	156877507	7	5	112	1	0	1	0	1	0	0	0	0	11754	747	26	0	772	0	PEAR1	1	156877507	Frame_Shift_Del	DEL	C	TCGA-US-A776-01A-13D-A33T-08	662180	156877507	92373114	26	36635											
SPTA1	6708	broad.mit.edu	37	chr1	158618342	158618342	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctttcaaagccctcatgcCgtcgctgaagagcctgaaca	8	15	2	3	rs370505272		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:158618342C>T	ENST00000368147.4	-	26	3851	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1224					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)					GCCCTCATGCCGTCGCTGAAG	0.502																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(3670-3672)cGg>cAg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	GLN/ARG	1,3897		0,1,1948	118	119	119		3671	3.2	1	1		119	0,8256		0,0,4128	no	missense	SPTA1	NM_003126.2	43	0,1,6076	TT,TC,CC		0.0,0.0257,0.0082	benign	1224/2420	158618342	1,12153	1949	4128	6077	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618342C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3671G>A	1.37:g.158618342C>T	ENSP00000357129:p.Arg1224Gln					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1224Q	p.R1224Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			26	3851	-	all_hematologic(112;0.0378)		1224					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.3671G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696860	0.48202	2.57E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49139	0.79;0.79	5.5	3.17	0.36434	.	0.307452	0.17970	N	0.155920	T	0.11153	0.0272	N	0.12422	0.21	0.24601	N	0.99378	B	0.02656	0.0	B	0.08055	0.003	T	0.22730	-1.0208	10	0.26408	T	0.33	.	9.1642	0.37041	0.0:0.1701:0.0:0.8299	.	1224	P02549	SPTA1_HUMAN	Q	1224	ENSP00000357130:R1224Q;ENSP00000357129:R1224Q	ENSP00000357129:R1224Q	R	-	2	0	SPTA1	156884966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.500000	0.60387	1.111000	0.41721	-0.238000	0.12139	CGG		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		218	245	0	0	0	1	0	218	245					T	158618342	C	T	158618342	3	4	112	1	0	0	0	0	1	0	0	0	15168	652	23	1	3696	1	SPTA1	1	158618342	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1740835	158618342	90632279	27	36636											
RABGAP1L	9910	broad.mit.edu	37	chr1	174606564	174606564	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atattcatcgtacatttcccGcacatgattactttaaagat	4	9	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:174606564G>A	ENST00000251507.4	+	14	1936	c.1762G>A	c.(1762-1764)Gca>Aca	p.A588T		NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.A588T(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TACATTTCCCGCACATGATTA	0.358																																						ENST00000251507.4																			1	Substitution - Missense(1)	p.A588T(1)	prostate(1)	NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						c.(1762-1764)Gca>Aca		RAB GTPase activating protein 1-like							115	104	108					1																	174606564		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174606564G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1762G>A	1.37:g.174606564G>A	ENSP00000251507:p.Ala588Thr						p.A588T	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN			14	1936	+			588			Rab-GAP TBC.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1762G>A	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927515	0.92389	.	.	ENSG00000152061	ENST00000251507;ENST00000367692	T	0.03982	3.74	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	L	0.31664	0.95	0.80722	D	1	D	0.65815	0.995	D	0.63793	0.918	T	0.04191	-1.0970	10	0.48119	T	0.1	.	18.7409	0.91773	0.0:0.0:1.0:0.0	.	588	Q5R372	RBG1L_HUMAN	T	588;600	ENSP00000251507:A588T	ENSP00000251507:A588T	A	+	1	0	RABGAP1L	172873187	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.955000	0.93058	2.593000	0.87608	0.591000	0.81541	GCA		0.358	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		5	473	0	0	0	1	0	5	473					A	174606564	G	A	174606564	3	1	112	1	0	0	0	0	1	0	0	0	13015	1087	38	1	1812	1	RABGAP1L	1	174606564	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	15988222	174606564	74644057	28	36637											
PAPPA2	60676	broad.mit.edu	37	chr1	176564512	176564512	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gaactgtgagcccagcaagaTtggcaatgaccattgtgacc	11	10	0	4	rs201890893		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:176564512T>A	ENST00000367662.3	+	3	2936	c.1772T>A	c.(1771-1773)aTt>aAt	p.I591N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	591	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						CCCAGCAAGATTGGCAATGAC	0.602																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(1771-1773)aTt>aAt		pappalysin 2							121	122	121					1																	176564512		2095	4228	6323	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564512T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1772T>A	1.37:g.176564512T>A	ENSP00000356634:p.Ile591Asn					PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	p.I591N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			3	2936	+			591			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1772T>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910769	0.52439	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.51325	3.96;0.71	5.24	5.24	0.73138	Notch domain (2);	0.381407	0.27531	N	0.018942	T	0.59418	0.2192	L	0.36672	1.1	0.43971	D	0.996659	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.973	T	0.63193	-0.6692	10	0.87932	D	0	-6.9095	14.8259	0.70113	0.0:0.0:0.0:1.0	.	591;591	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	591	ENSP00000356634:I591N;ENSP00000356633:I591N	ENSP00000356633:I591N	I	+	2	0	PAPPA2	174831135	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.897000	0.87356	1.976000	0.57569	0.528000	0.53228	ATT		0.602	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			104	418	0	0	0	1	0	104	418					A	176564512	T	A	176564512	3	1	112	1	0	0	0	0	1	0	0	0	11475	1493	52	5	1778	5	PAPPA2	1	176564512	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	1957948	176564512	72686109	29	36638											
CYB5R1	51706	broad.mit.edu	37	chr1	202931804	202931804	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccggatcatgtcggcagtcaCaaagcccttgctgtaggccc	11	14	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:202931804C>G	ENST00000367249.4	-	9	843	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	257					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TCGGCAGTCACAAAGCCCTTG	0.572																																						ENST00000367249.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(769-771)Gtg>Ctg		cytochrome b5 reductase 1							87	78	81					1																	202931804		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202931804C>G	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.769G>C	1.37:g.202931804C>G	ENSP00000356218:p.Val257Leu					CYB5R1_ENST00000497655.1_5'UTR	p.V257L	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		9	843	-			257					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.769G>C	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963356	0.74016	.	.	ENSG00000159348	ENST00000367249	D	0.91843	-2.92	6.08	6.08	0.98989	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.081205	0.51477	D	0.000095	D	0.91324	0.7264	L	0.45422	1.42	0.46798	D	0.999203	B	0.20261	0.043	B	0.34242	0.178	D	0.87590	0.2490	10	0.87932	D	0	-4.6296	18.1659	0.89727	0.0:1.0:0.0:0.0	.	257	Q9UHQ9	NB5R1_HUMAN	L	257	ENSP00000356218:V257L	ENSP00000356218:V257L	V	-	1	0	CYB5R1	201198427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.328000	0.65887	2.894000	0.99253	0.591000	0.81541	GTG		0.572	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		42	262	0	0	0	1	0	42	262					G	202931804	C	G	202931804	3	3	112	1	0	0	0	0	1	0	0	0	4137	478	17	5	152	5	CYB5R1	1	202931804	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	26367292	202931804	46318817	30	36639											
TGFB2	7042	broad.mit.edu	37	chr1	218609475	218609475	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagaagcgtgctttggatgcGgcctattgctttaggtaaag	13	6	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:218609475G>A	ENST00000366930.4	+	5	1385	c.918G>A	c.(916-918)gcG>gcA	p.A306A	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Silent_p.A334A	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					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)		CTTTGGATGCGGCCTATTGCT	0.438																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1000-1002)gcG>gcA		transforming growth factor, beta 2							78	74	75					1																	218609475		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218609475G>A	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.918G>A	1.37:g.218609475G>A						TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.A306A	p.A334A	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	6	1469	+			306					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.1002G>A	CCDS1521.1																																																																																				0.438	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		17	398	0	0	0	1	0	17	398					A	218609475	G	A	218609475	2	1	112	1	0	0	0	0	0	0	0	1	15870	1103	39	1		1	TGFB2	1	218609475	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	15677671	218609475	30641146	31	36640											
CNIH3	149111	broad.mit.edu	37	chr1	224872534	224872534	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatcgagcgcatctgcttcCttctgcgaaaggtcagtgtg	11	11	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:224872534C>T	ENST00000272133.3	+	3	1069	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	63					intracellular signal transduction (GO:0035556)|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)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCTGCTTCCTTCTGCGAAA	0.532																																						ENST00000272133.3																			0				large_intestine(5)|lung(4)	9						c.(187-189)Ctt>Ttt		cornichon family AMPA receptor auxiliary protein 3							200	159	173					1																	224872534		2203	4300	6503	SO:0001583	missense	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224872534C>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.187C>T	1.37:g.224872534C>T	ENSP00000272133:p.Leu63Phe						p.L63F	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	3	1069	+	Breast(184;0.218)		63						Missense_Mutation	SNP	ENST00000272133.3	37	c.187C>T	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558961	0.45590	.	.	ENSG00000143786	ENST00000272133	T	0.42513	0.97	4.49	3.58	0.41010	.	0.000000	0.64402	U	0.000001	T	0.27866	0.0686	L	0.29908	0.895	0.45567	D	0.998516	B	0.15719	0.014	B	0.19391	0.025	T	0.05022	-1.0911	10	0.09338	T	0.73	-13.0488	11.2414	0.48972	0.0:0.9082:0.0:0.0918	.	63	Q8TBE1	CNIH3_HUMAN	F	63	ENSP00000272133:L63F	ENSP00000272133:L63F	L	+	1	0	CNIH3	222939157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.258000	0.65479	0.892000	0.36259	0.551000	0.68910	CTT		0.532	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		18	391	0	0	0	1	0	18	391					T	224872534	C	T	224872534	3	4	112	1	0	0	0	0	1	0	0	0	3613	681	24	2	197	2	CNIH3	1	224872534	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	6263059	224872534	24378087	32	36641											
TOMM20	9804	broad.mit.edu	37	chr1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggtcacttcgtcttttgCggtcgaagtagatgcagtac	13	8	2	1	rs1130507		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597																																						ENST00000366607.4																			0				lung(2)|prostate(1)	3						c.(76-78)cGc>cAc		translocase of outer mitochondrial membrane 20 homolog (yeast)							138	127	131					1																	235291954		2203	4300	6503	SO:0001583	missense	9804				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding	g.chr1:235291954C>T		CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type II"	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.77G>A	1.37:g.235291954C>T	ENSP00000355566:p.Arg26His						p.R26H	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)		1	297	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	26					A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	ENST00000366607.4	37	c.77G>A	CCDS1603.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559898	0.27827	.	.	ENSG00000173726	ENST00000366607	T	0.46451	0.87	4.95	2.01	0.26516	.	0.052748	0.64402	D	0.000001	T	0.29749	0.0743	L	0.45285	1.41	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.05699	-1.0869	10	0.24483	T	0.36	-0.4404	6.8598	0.24060	0.1329:0.6698:0.1279:0.0695	rs1130507;rs3189427	26	Q15388	TOM20_HUMAN	H	26	ENSP00000355566:R26H	ENSP00000355566:R26H	R	-	2	0	TOMM20	233358577	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.097000	0.76967	0.359000	0.24239	-0.304000	0.09214	CGC		0.597	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095551.1	NM_014765		8	909	0	0	0	1	0	8	909					T	235291954	C	T	235291954	3	4	112	1	0	0	0	0	1	0	0	0	16406	768	27	1	380	1	TOMM20	1	235291954	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10419420	235291954	13958667	33	36642											
OR2T4	127074	broad.mit.edu	37	chr1	248525478	248525478	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccatcaccatgaccttccCcttccgtggatcccgggaga	8	17	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:248525478C>T	ENST00000366475.1	+	1	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	199						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)			ATGACCTTCCCCTTCCGTGGA	0.498																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(595-597)cCc>cTc		olfactory receptor, family 2, subfamily T, member 4							224	202	210					1																	248525478		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525478C>T	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.596C>T	1.37:g.248525478C>T	ENSP00000355431:p.Pro199Leu						p.P199L	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	596	+	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)		199					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.596C>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234689	0.39498	.	.	ENSG00000196944	ENST00000366475	T	0.38560	1.13	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000280	T	0.53738	0.1815	M	0.85945	2.785	0.09310	N	1	P	0.40731	0.728	P	0.49853	0.624	T	0.53394	-0.8445	10	0.87932	D	0	.	5.5708	0.17196	0.1974:0.6958:0.0:0.1068	.	199	Q8NH00	OR2T4_HUMAN	L	199	ENSP00000355431:P199L	ENSP00000355431:P199L	P	+	2	0	OR2T4	246592101	0.011000	0.17503	0.409000	0.26459	0.693000	0.40251	2.577000	0.46042	1.543000	0.49345	0.585000	0.79938	CCC		0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		8	995	0	0	0	1	0	8	995					T	248525478	C	T	248525478	3	4	112	1	0	0	0	0	1	0	0	0	11069	623	22	2	598	2	OR2T4	1	248525478	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13233524	248525478	725143	34	36643											
CPSF3	51692	broad.mit.edu	37	chr2	9599742	9599742	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcagtcaaatcccaaaataaGaaaaggtaagagttcatttt	6	6	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:9599742G>A	ENST00000238112.3	+	15	1987	c.1781G>A	c.(1780-1782)aGa>aAa	p.R594K	CPSF3_ENST00000460593.1_Missense_Mutation_p.R557K|CPSF3_ENST00000489403.1_3'UTR	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	594					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CCCAAAATAAGAAAAGGTAAG	0.373																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1669-1671)aGa>aAa		cleavage and polyadenylation specific factor 3, 73kDa							62	60	60					2																	9599742		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9599742G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1781G>A	2.37:g.9599742G>A	ENSP00000238112:p.Arg594Lys					CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Missense_Mutation_p.R594K	p.R557K			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	15	2808	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	594					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.1670G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	8.029	0.761421	0.15914	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000427001;ENST00000460593	T;T	0.39592	1.07;1.07	5.84	4.86	0.63082	-end-processing endonuclease polyadenylation factor C-term (1);Pre-mRNA 3&apos (1);	0.239554	0.42821	D	0.000660	T	0.17408	0.0418	N	0.04508	-0.205	0.30241	N	0.794991	B;B	0.06786	0.001;0.0	B;B	0.19946	0.027;0.001	T	0.11446	-1.0587	10	0.19590	T	0.45	3.1204	4.1104	0.10057	0.3095:0.0:0.6905:0.0	.	545;594	E7ER23;Q9UKF6	.;CPSF3_HUMAN	K	594;316;545;557	ENSP00000238112:R594K;ENSP00000418957:R557K	ENSP00000238112:R594K	R	+	2	0	CPSF3	9517193	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.050000	0.64251	2.764000	0.94973	0.655000	0.94253	AGA		0.373	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		8	123	0	0	0	1	0	8	123					A	9599742	G	A	9599742	3	1	112	1	0	0	0	0	1	0	0	0	3835	942	33	2	1839	2	CPSF3	2	9599742	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		9599742	233599631	35	36644											
KCNS3	3790	broad.mit.edu	37	chr2	18112885	18112885	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctccatcgtggccatgtgcGttcacagcatgtcggagttc	11	13	1	0	rs144701569		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:18112885G>A	ENST00000403915.1	+	3	1061	c.610G>A	c.(610-612)Gtt>Att	p.V204I	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	204					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCCATGTGCGTTCACAGCAT	0.552																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(610-612)Gtt>Att		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	67	65	65		610	-2.3	0	2	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNS3	NM_002252.3	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	204/492	18112885	2,13004	2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112885G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.610G>A	2.37:g.18112885G>A	ENSP00000385968:p.Val204Ile					KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I	p.V204I			Q9BQ31	KCNS3_HUMAN			3	1061	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		204					D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.610G>A	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	1.511	-0.549535	0.03996	2.27E-4	1.16E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97455	-4.39;-4.39	6.07	-2.27	0.06846	.	0.373102	0.28865	N	0.013885	D	0.88603	0.6481	N	0.02420	-0.555	0.23712	N	0.997041	B	0.06786	0.001	B	0.04013	0.001	T	0.77643	-0.2511	10	0.39692	T	0.17	.	13.6407	0.62249	0.75:0.0:0.25:0.0	.	204	Q9BQ31	KCNS3_HUMAN	I	204	ENSP00000385968:V204I;ENSP00000305824:V204I	ENSP00000305824:V204I	V	+	1	0	KCNS3	17976366	0.851000	0.29673	0.002000	0.10522	0.531000	0.34715	1.304000	0.33482	-0.533000	0.06323	-1.553000	0.00894	GTT		0.552	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		4	204	0	0	0	1	0	4	204					A	18112885	G	A	18112885	3	1	112	1	0	0	0	0	1	0	0	0	8120	1145	40	1	612	1	KCNS3	2	18112885	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8513143	18112885	225086488	36	36645											
OTOF	9381	broad.mit.edu	37	chr2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-													tctggctcctccgcagtgccCttcttcttcttcttcttctc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	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)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	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	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	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					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			7	365						7	365	---	---	---	---	-	26693556	CTT	-	26693554	7	5	112	1	0	1	0	1	0	0	0	0	11345	680	24	0	2308	0	OTOF	2	26693554	In_Frame_Del	DEL	CTT	TCGA-US-A776-01A-13D-A33T-08	8580669	26693554	216505819	37	36646											
PROM2	150696	broad.mit.edu	37	chr2	95944852	95944852	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggaggtggaggagagcagcCgcccctacctgcaggaggtg	18	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95944852C>T	ENST00000317620.9	+	10	1367	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000403131.2_Missense_Mutation_p.R412C|PROM2_ENST00000542147.1_Missense_Mutation_p.R412C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412					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						GGAGAGCAGCCGCCCCTACCT	0.687																																						ENST00000317620.9																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1234-1236)Cgc>Tgc		prominin 2							19	20	19					2																	95944852		2200	4290	6490	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95944852C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1234C>T	2.37:g.95944852C>T	ENSP00000318270:p.Arg412Cys					PROM2_ENST00000403131.2_Missense_Mutation_p.R412C|PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000542147.1_Missense_Mutation_p.R412C	p.R412C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN			10	1367	+			412					A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1234C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595166	0.66219	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.94	4.01	0.46588	.	0.319686	0.26496	N	0.024057	T	0.63988	0.2558	M	0.76574	2.34	0.47698	D	0.999491	D	0.89917	1.0	D	0.65773	0.938	T	0.66578	-0.5888	10	0.59425	D	0.04	-25.1156	11.117	0.48266	0.1839:0.8161:0.0:0.0	.	412	Q8N271	PROM2_HUMAN	C	412	ENSP00000385716:R412C;ENSP00000318520:R412C;ENSP00000318270:R412C;ENSP00000442542:R412C	ENSP00000318270:R412C	R	+	1	0	PROM2	95308579	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.805000	0.47939	2.446000	0.82766	0.609000	0.83330	CGC		0.687	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		23	102	0	0	0	1	0	23	102					T	95944852	C	T	95944852	3	4	112	1	0	0	0	0	1	0	0	0	12603	652	23	1	1272	1	PROM2	2	95944852	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	69251298	95944852	147254521	38	36647											
KCNIP3	30818	broad.mit.edu	37	chr2	96049770	96049770	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgagaacatcatgagctcCatgcagctgtttgagaatgt	11	7	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:96049770C>T	ENST00000295225.5	+	9	879	c.744C>T	c.(742-744)tcC>tcT	p.S248S	KCNIP3_ENST00000468529.1_Silent_p.S222S|KCNIP3_ENST00000360990.3_Silent_p.S226S|KCNIP3_ENST00000377181.2_3'UTR	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	248	Interaction with KCND2. {ECO:0000250}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TCATGAGCTCCATGCAGCTGT	0.582																																						ENST00000295225.5																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(742-744)tcC>tcT		Kv channel interacting protein 3, calsenilin							135	131	132					2																	96049770		2203	4300	6503	SO:0001819	synonymous_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96049770C>T	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"EF-hand domain containing"	15523	protein-coding gene	gene with protein product		604662	"calsenilin, presenilin-binding protein, EF hand transcription factor"	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.744C>T	2.37:g.96049770C>T						KCNIP3_ENST00000360990.3_Silent_p.S226S|KCNIP3_ENST00000468529.1_Silent_p.S222S|KCNIP3_ENST00000377181.2_3'UTR	p.S248S	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	9	879	+			248			Interaction with KCND2 (By similarity).		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	c.744C>T	CCDS2013.1																																																																																				0.582	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1	NM_013434		87	452	0	0	0	1	0	87	452					T	96049770	C	T	96049770	2	4	112	1	0	0	0	0	0	0	0	1	8071	581	21	2		2	KCNIP3	2	96049770	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	104918	96049770	147149603	39	36648											
FHL2	2274	broad.mit.edu	37	chr2	106002866	106002866	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cactcctcgcaggtgttggcGaacagggtctcaaagcacac	11	13	1	0	rs201189319	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:106002866G>A	ENST00000409807.1	-	2	442	c.108C>T	c.(106-108)ttC>ttT	p.F36F	FHL2_ENST00000393353.3_Silent_p.F36F|FHL2_ENST00000607522.1_Silent_p.F36F|FHL2_ENST00000344213.4_Silent_p.F146F|FHL2_ENST00000408995.1_Silent_p.F36F|FHL2_ENST00000336660.5_Silent_p.F36F|FHL2_ENST00000393352.3_Silent_p.F36F|FHL2_ENST00000358129.4_Silent_p.F36F|FHL2_ENST00000409177.1_Silent_p.F152F|FHL2_ENST00000322142.8_Silent_p.F36F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	36					androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGGTGTTGGCGAACAGGGTCT	0.612													G|||	6	0.00119808	0.0	0.0	5008	,	,		16834	0.0		0.001	False		,,,				2504	0.0051					ENST00000409177.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(454-456)ttC>ttT		four and a half LIM domains 2							78	72	74					2																	106002866		2203	4300	6503	SO:0001819	synonymous_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:106002866G>A		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.108C>T	2.37:g.106002866G>A						FHL2_ENST00000408995.1_Silent_p.F36F|FHL2_ENST00000322142.8_Silent_p.F36F|FHL2_ENST00000393353.3_Silent_p.F36F|FHL2_ENST00000344213.4_Silent_p.F146F|FHL2_ENST00000393352.3_Silent_p.F36F|FHL2_ENST00000358129.4_Silent_p.F36F|FHL2_ENST00000409807.1_Silent_p.F36F|FHL2_ENST00000336660.5_Silent_p.F36F|FHL2_ENST00000607522.1_Silent_p.F36F	p.F152F			Q14192	FHL2_HUMAN			2	577	-			36			LIM zinc-binding 2.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Silent	SNP	ENST00000409807.1	37	c.456C>T	CCDS2070.1																																																																																				0.612	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			4	311	0	0	0	1	0	4	311					A	106002866	G	A	106002866	2	1	112	1	0	0	0	0	0	0	0	1	5904	1049	37	1		1	FHL2	2	106002866	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	9953096	106002866	137196507	40	36649											
RGPD3	653489	broad.mit.edu	37	chr2	107049632	107049632	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatgttttatttctgaatccGcatttcgcaaagaaccattt	5	8	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:107049632G>A	ENST00000409886.3	-	16	2402	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGAATCCGCATTTCGCAA	0.373																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gCg>gTg		RANBP2-like and GRIP domain containing 3							90	75	80					2																	107049632		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049632G>A		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.2315C>T	2.37:g.107049632G>A	ENSP00000386588:p.Ala772Val					RGPD3_ENST00000304514.7_Missense_Mutation_p.A772V	p.A772V	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2402	-			772					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2315C>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	3.284	-0.146450	0.06627	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23348	1.91;1.91	2.34	1.42	0.22433	.	.	.	.	.	T	0.19127	0.0459	L	0.47716	1.5	0.22947	N	0.998528	B	0.15141	0.012	B	0.06405	0.002	T	0.16778	-1.0391	9	0.37606	T	0.19	-0.1623	4.3139	0.10984	0.2042:0.0:0.7958:0.0	.	772	A6NKT7	RGPD3_HUMAN	V	772;530;772	ENSP00000386588:A772V;ENSP00000303659:A772V	ENSP00000303659:A772V	A	-	2	0	RGPD3	106416064	0.918000	0.31147	0.919000	0.36401	0.028000	0.11728	0.415000	0.21181	1.308000	0.44962	0.173000	0.16961	GCG		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		10	1111	0	0	0	1	0	10	1111					A	107049632	G	A	107049632	3	1	112	1	0	0	0	0	1	0	0	0	13337	1087	38	1	2993	1	RGPD3	2	107049632	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1046766	107049632	136149741	41	36650											
RANBP2	5903	broad.mit.edu	37	chr2	109380485	109380487	+	In_Frame_Del	DEL	GAT	GAT	-													atggaggaagtgcccatgggGatgatgatgatgacggtcct							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:109380485_109380487delGAT	ENST00000283195.6	+	20	3616_3618	c.3490_3492delGAT	c.(3490-3492)gatdel	p.D1168del		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1168					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						TGCCCATGGGGATGATGATGATG	0.424																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3490-3492)del		RAN binding protein 2																																				SO:0001651	inframe_deletion	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380485_109380487delGAT	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.3490_3492delGAT	2.37:g.109380494_109380496delGAT	ENSP00000283195:p.Asp1168del						p.D1168del	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3616_3618	+			1168					Q13074|Q15280|Q53TE2|Q59FH7	In_Frame_Del	DEL	ENST00000283195.6	37	c.3490_3492delGAT	CCDS2079.1																																																																																				0.424	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		8	595						8	595	---	---	---	---	-	109380487	GAT	-	109380485	7	5	112	1	0	1	0	1	0	0	0	0	13078	1174	41	0	3568	0	RANBP2	2	109380485	In_Frame_Del	DEL	GAT	TCGA-US-A776-01A-13D-A33T-08	2330853	109380485	133818888	42	36651											
MARCO	8685	broad.mit.edu	37	chr2	119739962	119739962	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagtccaggagccacaggcCtgaaaggaagcaaaggggac	16	9	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:119739962C>A	ENST00000327097.4	+	12	1174	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M	MARCO_ENST00000541757.1_Missense_Mutation_p.L269M	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	347	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						AGCCACAGGCCTGAAAGGAAG	0.562																																					GBM(8;18 374 7467 11269 32796)	ENST00000541757.1																			0				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						c.(805-807)Ctg>Atg		macrophage receptor with collagenous structure							159	168	165					2																	119739962		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119739962C>A	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.1039C>A	2.37:g.119739962C>A	ENSP00000318916:p.Leu347Met					MARCO_ENST00000327097.4_Missense_Mutation_p.L347M	p.L269M			Q9UEW3	MARCO_HUMAN			13	1185	+			347			Collagen-like.		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.805C>A	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546757	0.13312	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93712	-3.27;-3.27	4.96	-7.28	0.01456	.	1.405680	0.04250	N	0.338481	D	0.86062	0.5843	L	0.45137	1.4	0.09310	N	1	P	0.34546	0.456	B	0.29716	0.106	T	0.76589	-0.2904	9	.	.	.	.	4.354	0.11169	0.4457:0.1275:0.3468:0.08	.	347	Q9UEW3	MARCO_HUMAN	M	347;347;269	ENSP00000318916:L347M;ENSP00000441769:L269M	.	L	+	1	2	MARCO	119456432	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-4.595000	0.00211	-0.929000	0.03757	-0.182000	0.12963	CTG		0.562	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		132	660	1	0	4.83839e-50	1	5.27519e-50	132	660					A	119739962	C	A	119739962	3	1	112	1	0	0	0	0	1	0	0	0	9352	680	24	3	1085	3	MARCO	2	119739962	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10359477	119739962	123459411	43	36652											
DARS	1615	broad.mit.edu	37	chr2	136680484	136680484	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acattggctcctccttcactGgcagctgaaaggtaaacatt	8	11	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:136680484G>A	ENST00000264161.4	-	9	896	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DARS_ENST00000537273.1_Silent_p.A127A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	227					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTCCTTCACTGGCAGCTGAAA	0.328																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(679-681)gcC>gcT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						45	43	44					2																	136680484		2203	4300	6503	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136680484G>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.681C>T	2.37:g.136680484G>A						DARS_ENST00000537273.1_Silent_p.A127A	p.A227A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	9	896	-			227					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.681C>T	CCDS2180.1																																																																																				0.328	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		24	210	0	0	0	1	0	24	210					A	136680484	G	A	136680484	2	1	112	1	0	0	0	0	0	0	0	1	4252	1335	47	2		2	DARS	2	136680484	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	16940522	136680484	106518889	44	36653											
EVX2	344191	broad.mit.edu	37	chr2	176948170	176948170	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgtcgctgctcatgtcgGcctcagcggccgcctctgaa	11	17	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:176948170G>A	ENST00000308618.4	-	1	471	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	112					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)		GCTCATGTCGGCCTCAGCGGC	0.662																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(334-336)gCc>gTc		even-skipped homeobox 2							25	30	28					2																	176948170		2202	4300	6502	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948170G>A		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.335C>T	2.37:g.176948170G>A	ENSP00000312385:p.Ala112Val						p.A112V	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	471	-			112						Missense_Mutation	SNP	ENST00000308618.4	37	c.335C>T	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582621	0.86748	.	.	ENSG00000174279	ENST00000308618	D	0.91740	-2.9	5.43	5.43	0.79202	.	0.185889	0.47455	D	0.000233	D	0.92231	0.7536	L	0.43923	1.385	0.49798	D	0.999827	P	0.52463	0.953	P	0.50109	0.631	D	0.92876	0.6319	10	0.66056	D	0.02	-11.2309	19.2581	0.93955	0.0:0.0:1.0:0.0	.	112	Q03828	EVX2_HUMAN	V	112	ENSP00000312385:A112V	ENSP00000312385:A112V	A	-	2	0	EVX2	176656416	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.547000	0.85894	0.655000	0.94253	GCC		0.662	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			4	159	0	0	0	1	0	4	159					A	176948170	G	A	176948170	3	1	112	1	0	0	0	0	1	0	0	0	5313	1203	42	2	1105	2	EVX2	2	176948170	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	40267686	176948170	66251203	45	36654											
TTN	7273	broad.mit.edu	37	chr2	179393379	179393387	+	In_Frame_Del	DEL	TCTGAGAGT	TCTGAGAGT	-													gtgagatgaaggctggagcaTctgagagttctttgctcagt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:179393379_179393387delTCTGAGAGT	ENST00000591111.1	-	310	102392_102400	c.102168_102176delACTCTCAGA	c.(102166-102177)gaactctcagat>gat	p.ELS34056del	TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.ELS33129del|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELS26824del|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELS26632del|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.ELS35697del|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELS26757del|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34056					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)			GGCTGGAGCATCTGAGAGTTCTTTGCTCA	0.431																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(107089-107100)gat>ga		titin																																				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393379_179393387delTCTGAGAGT	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.102168_102176delACTCTCAGA	2.37:g.179393379_179393387delTCTGAGAGT	ENSP00000465570:p.Glu34056_Ser34058del					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.ELSD34056del|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000359218.5_In_Frame_Del_p.ELSD26757del|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELSD26632del|TTN_ENST00000342992.6_In_Frame_Del_p.ELSD33129del|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELSD26824del|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588804.1_RNA	p.ELSD35697del	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		360	107315_107323	-			34056					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37	c.107091_107099delACTCTCAGA																																																																																					0.431	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	78						26	78	---	---	---	---	-	179393387	TCTGAGAGT	-	179393379	7	5	112	1	0	1	0	1	0	0	0	0	16789	1435	50	0	892	0	TTN	2	179393379	In_Frame_Del	DEL	TCTGAGAGT	TCGA-US-A776-01A-13D-A33T-08	2445209	179393379	63805994	46	36655											
COL3A1	1281	broad.mit.edu	37	chr2	189859047	189859047	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaatggtgctcctggactgCgaggtggtgcagtaagttgc	15	8	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:189859047C>T	ENST00000304636.3	+	18	1452	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	428	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)	TCCTGGACTGCGAGGTGGTGC	0.488																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1282-1284)Cga>Tga		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						82	87	85					2																	189859047		2203	4300	6503	SO:0001587	stop_gained	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859047C>T	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.1282C>T	2.37:g.189859047C>T	ENSP00000304408:p.Arg428*					COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	p.R428*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		18	1452	+			428			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Nonsense_Mutation	SNP	ENST00000304636.3	37	c.1282C>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213619	0.97380	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.56	3.43	0.39272	.	0.000000	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.1295	0.53934	0.5667:0.4332:0.0:0.0	.	.	.	.	X	428	.	ENSP00000304408:R428X	R	+	1	2	COL3A1	189567292	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	4.471000	0.60182	1.432000	0.47375	0.655000	0.94253	CGA		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		16	310	0	0	0	1	0	16	310					T	189859047	C	T	189859047	4	4	112	1	0	0	0	0	0	1	0	0	3697	760	27	1	1352	1	COL3A1	2	189859047	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10465668	189859047	53340326	47	36656											
SF3B1	23451	broad.mit.edu	37	chr2	198266548	198266548	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcacttctctagtatagtagTtggcatattctgcatccata	6	9	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:198266548T>C	ENST00000335508.6	-	16	2379	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	763					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)			AGTATAGTAGTTGGCATATTC	0.323			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"splicing factor 3b, subunit 1, 155kDa"			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2287-2289)aAc>aGc		splicing factor 3b, subunit 1, 155kDa							83	90	88					2																	198266548		2202	4297	6499	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266548T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2288A>G	2.37:g.198266548T>C	ENSP00000335321:p.Asn763Ser						p.N763S	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	2379	-			763					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2288A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243402	0.39697	.	.	ENSG00000115524	ENST00000335508	T	0.63255	-0.03	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	N	0.13327	0.33	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.36817	-0.9732	10	0.19147	T	0.46	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	763	O75533	SF3B1_HUMAN	S	763	ENSP00000335321:N763S	ENSP00000335321:N763S	N	-	2	0	SF3B1	197974793	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.980000	0.88113	2.171000	0.68590	0.533000	0.62120	AAC		0.323	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			139	270	0	0	0	1	0	139	270					C	198266548	T	C	198266548	3	2	112	1	0	0	0	0	1	0	0	0	14199	1725	60	4	1666	4	SF3B1	2	198266548	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	8407501	198266548	44932825	48	36657											
HDAC4	9759	broad.mit.edu	37	chr2	240056274	240056274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgttgggcaaggatggCgatgtgtagaggggaagtgg	21	2	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:240056274C>T	ENST00000345617.3	-	10	1835	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.S317S|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	348					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)		GCAAGGATGGCGATGTGTAGA	0.632																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(1042-1044)tcG>tcA		histone deacetylase 4							120	120	120					2																	240056274		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240056274C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1044G>A	2.37:g.240056274C>T						HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.S317S	p.S348S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	10	1835	-		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)	348					Q9UND6	Silent	SNP	ENST00000345617.3	37	c.1044G>A	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	0.975	-0.698923	0.03279	.	.	ENSG00000068024	ENST00000445704	.	.	.	4.32	-3.3	0.05003	.	.	.	.	.	T	0.50051	0.1593	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43556	-0.9384	4	.	.	.	.	7.0263	0.24942	0.1417:0.3633:0.0:0.495	.	.	.	.	H	92	.	.	R	-	2	0	HDAC4	239721211	0.000000	0.05858	0.134000	0.22075	0.094000	0.18550	-6.383000	0.00068	-0.870000	0.04047	0.561000	0.74099	CGC		0.632	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		4	189	0	0	0	1	0	4	189					T	240056274	C	T	240056274	2	4	112	1	0	0	0	0	0	0	0	1	7039	755	27	1		1	HDAC4	2	240056274	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	41789726	240056274	3143099	49	36658											
LRRN1	57633	broad.mit.edu	37	chr3	3887411	3887411	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	acagtcgaatccctccccaaTctgcgtgagatcagtatcca	7	14	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:3887411T>A	ENST00000319331.3	+	2	1847	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	362						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)		CCCTCCCCAATCTGCGTGAGA	0.493																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(1084-1086)aaT>aaA		leucine rich repeat neuronal 1							92	84	87					3																	3887411		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3887411T>A	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.1086T>A	3.37:g.3887411T>A	ENSP00000314901:p.Asn362Lys					SUMF1_ENST00000534863.1_Intron	p.N362K	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	1847	+			362					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.1086T>A	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952617	0.53293	.	.	ENSG00000175928	ENST00000319331	T	0.56444	0.46	5.54	0.382	0.16234	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	L	0.45422	1.42	0.43421	D	0.995572	D	0.54772	0.968	P	0.50970	0.655	T	0.39187	-0.9626	10	0.33940	T	0.23	.	10.5818	0.45259	0.0:0.5557:0.0:0.4443	.	362	Q6UXK5	LRRN1_HUMAN	K	362	ENSP00000314901:N362K	ENSP00000314901:N362K	N	+	3	2	LRRN1	3862411	0.893000	0.30496	1.000000	0.80357	0.997000	0.91878	0.012000	0.13287	0.079000	0.16929	0.528000	0.53228	AAT		0.493	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		10	362	0	0	0	1	0	10	362					A	3887411	T	A	3887411	3	1	112	1	0	0	0	0	1	0	0	0	9072	1432	50	5	1088	5	LRRN1	3	3887411	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08		3887411	194135019	50	36659											
CAND2	23066	broad.mit.edu	37	chr3	12858160	12858160	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgctgtcaccctggcgCgacttcgtgccactgacctg	11	15	2	1	rs372784797		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:12858160C>T	ENST00000456430.2	+	10	1770	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	577					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						CACCCTGGCGCGACTTCGTGC	0.642																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				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						c.(1729-1731)Cga>Tga		cullin-associated and neddylation-dissociated 2 (putative)		C	stop/ARG,stop/ARG	0,4292		0,0,2146	44	52	49		1729,1450	3.1	0.6	3		49	1,8465		0,1,4232	no	stop-gained,stop-gained	CAND2	NM_001162499.1,NM_012298.2	,	0,1,6378	TT,TC,CC		0.0118,0.0,0.0078	,	577/1237,484/1120	12858160	1,12757	2146	4233	6379	SO:0001587	stop_gained	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858160C>T		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.1729C>T	3.37:g.12858160C>T	ENSP00000387641:p.Arg577*					CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	p.R577*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	1770	+			577					B9EGM9|E9KL24	Nonsense_Mutation	SNP	ENST00000456430.2	37	c.1729C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428020	0.83667	0.0	1.18E-4	ENSG00000144712	ENST00000295989;ENST00000456430	.	.	.	5.12	3.12	0.35913	.	0.061071	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0891	10.3459	0.43906	0.5379:0.4621:0.0:0.0	.	.	.	.	X	484;577	.	ENSP00000295989:R484X	R	+	1	2	CAND2	12833160	0.261000	0.24063	0.649000	0.29536	0.195000	0.23768	0.832000	0.27490	1.153000	0.42468	-0.310000	0.09108	CGA		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		67	377	0	0	0	1	0	67	377					T	12858160	C	T	12858160	4	4	112	1	0	0	0	0	0	1	0	0	2623	760	27	1	1767	1	CAND2	3	12858160	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	8970749	12858160	185164270	51	36660											
FYCO1	79443	broad.mit.edu	37	chr3	46009639	46009639	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgcatctcctgggccGcatcactgggaataggttct	11	13	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:46009639G>A	ENST00000296137.2	-	8	1392	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	396					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCCTGGGCCGCATCACTGGG	0.567																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1186-1188)gCg>gTg		FYVE and coiled-coil domain containing 1							164	166	166					3																	46009639		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009639G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1187C>T	3.37:g.46009639G>A	ENSP00000296137:p.Ala396Val					FYCO1_ENST00000535325.1_Missense_Mutation_p.A396V	p.A396V	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1392	-			396					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1187C>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185135	0.06340	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.21191	2.02;2.03	4.72	3.29	0.37713	.	0.235442	0.37136	N	0.002234	T	0.09024	0.0223	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25363	-1.0134	10	0.38643	T	0.18	-0.0765	9.3123	0.37912	0.1481:0.0:0.8519:0.0	.	396;396	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	V	396	ENSP00000296137:A396V;ENSP00000441178:A396V	ENSP00000296137:A396V	A	-	2	0	FYCO1	45984643	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.032000	0.30178	0.815000	0.34398	0.655000	0.94253	GCG		0.567	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		11	1172	0	0	0	1	0	11	1172					A	46009639	G	A	46009639	3	1	112	1	0	0	0	0	1	0	0	0	6152	1087	38	1	3293	1	FYCO1	3	46009639	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	33151479	46009639	152012791	52	36661											
WDR6	11180	broad.mit.edu	37	chr3	49049353	49049353	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcttgagggaaataTagccttggccctgggccaca	13	11	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49049353T>C	ENST00000608424.1	+	2	425	c.386T>C	c.(385-387)aTa>aCa	p.I129T	WDR6_ENST00000448293.1_Missense_Mutation_p.I78T|WDR6_ENST00000395474.3_Missense_Mutation_p.I159T|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	129					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)		GAGGGAAATATAGCCTTGGCC	0.557																																						ENST00000395474.3																			0				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						c.(475-477)aTa>aCa		WD repeat domain 6							77	75	76					3																	49049353		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049353T>C	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.386T>C	3.37:g.49049353T>C	ENSP00000477389:p.Ile129Thr					WDR6_ENST00000448293.1_Missense_Mutation_p.I78T|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron	p.I159T	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		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)	2	756	+			129					B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.476T>C		.	.	.	.	.	.	.	.	.	.	T	4.790	0.146928	0.09134	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.75938	-0.49;-0.49;-0.98	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.715972	0.12669	N	0.448892	T	0.62588	0.2440	N	0.19112	0.55	0.09310	N	1	B;B	0.23735	0.003;0.09	B;B	0.16722	0.006;0.016	T	0.54214	-0.8327	10	0.40728	T	0.16	-0.1838	14.4632	0.67465	0.0:0.0:0.0:1.0	.	129;78	Q9NNW5;E9PDU5	WDR6_HUMAN;.	T	159;161;129;78	ENSP00000378857:I159T;ENSP00000387692:I161T;ENSP00000413432:I78T	ENSP00000346247:I129T	I	+	2	0	WDR6	49024357	0.984000	0.35163	0.098000	0.21074	0.245000	0.25701	6.731000	0.74785	2.060000	0.61445	0.459000	0.35465	ATA		0.557	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			8	379	0	0	0	1	0	8	379					C	49049353	T	C	49049353	3	2	112	1	0	0	0	0	1	0	0	0	17364	1406	49	4	482	4	WDR6	3	49049353	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	3039714	49049353	148973077	53	36662											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A													agggcgcctctgagccgtcgGggttccggcagaagttctcc					rs200900272		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.P349L	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	161	0	0	0	1	0	4	161					A	49723596	G	A	49723596	1	1	112	0	1	0	0	0	0	0	0	0	9931	1232	43	2		2	MST1	3	49723596	IGR	SNP	G	TCGA-US-A776-01A-13D-A33T-08	674243	49723596	148298834	54	36663	228	2									
MST1	327	broad.mit.edu	37	chr3	49723603	49723603	+	IGR	SNP	G	G	A													ctctgagccgtcggggttccGgcagaagttctcccgaaggt					rs199969873	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.R347W	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	158	0	0	0	1	0	4	158					A	49723603	G	A	49723603	1	1	112	0	1	0	0	0	0	0	0	0	9931	1115	39	1		1	MST1	3	49723603	IGR	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7	49723603	148298827	55	36664	228	2									
ARHGEF3	50650	broad.mit.edu	37	chr3	56789016	56789016	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccccgagcctacctcctgaCgtttgatttccttggatgta	9	13	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:56789016C>T	ENST00000296315.3	-	3	536	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R129H	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	123	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TACCTCCTGACGTTTGATTTC	0.537																																						ENST00000413728.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25						c.(385-387)cGt>cAt		Rho guanine nucleotide exchange factor (GEF) 3							126	109	115					3																	56789016		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56789016C>T	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.368G>A	3.37:g.56789016C>T	ENSP00000296315:p.Arg123His					ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.R123H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H	p.R129H	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	3	929	-			123			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.386G>A	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619168	0.96649	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.75050	0.93;0.93;0.93;0.93;0.93;0.93;-0.9;-0.9	5.32	5.32	0.75619	Dbl homology (DH) domain (3);	0.056451	0.64402	D	0.000004	D	0.88190	0.6370	M	0.86097	2.795	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.988;0.993;0.997;0.996;0.998	D	0.89160	0.3529	10	0.62326	D	0.03	-2.6874	19.3999	0.94623	0.0:1.0:0.0:0.0	.	129;94;123;155;123;129	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	H	123;155;129;129;94;123;124;141	ENSP00000296315:R123H;ENSP00000341071:R155H;ENSP00000410922:R129H;ENSP00000420420:R129H;ENSP00000418826:R94H;ENSP00000417986:R123H;ENSP00000417087:R124H;ENSP00000420402:R141H	ENSP00000296315:R123H	R	-	2	0	ARHGEF3	56764056	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.770000	0.85390	2.668000	0.90789	0.655000	0.94253	CGT		0.537	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		31	489	0	0	0	1	0	31	489					T	56789016	C	T	56789016	3	4	112	1	0	0	0	0	1	0	0	0	904	536	19	1	1244	1	ARHGEF3	3	56789016	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	7065413	56789016	141233414	56	36665											
FHIT	2272	broad.mit.edu	37	chr3	59999777	59999777	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccatggaaatgtttttccaCcactgtcccgactctctggg	8	14	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:59999777C>A	ENST00000468189.1	-	6	575	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000476844.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L			P49789	FHIT_HUMAN	fragile histidine triad	69	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				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)		TGTTTTTCCACCACTGTCCCG	0.512			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													ENST00000468189.1				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12						c.(205-207)Gtg>Ttg		fragile histidine triad							98	96	96					3																	59999777		2203	4300	6503	SO:0001583	missense	2272	Renal Cell Cancer associated with constitutional translocation of chromosome 3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:59999777C>A	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.205G>T	3.37:g.59999777C>A	ENSP00000417480:p.Val69Leu					FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L|FHIT_ENST00000476844.1_Missense_Mutation_p.V69L	p.V69L			P49789	FHIT_HUMAN		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)	6	575	-		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)	69			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.205G>T	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	C	2.453	-0.325961	0.05350	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	5.96	4.2	0.49525	Histidine triad motif (1);Histidine triad-like motif (1);	0.063315	0.64402	D	0.000007	T	0.80308	0.4599	N	0.11818	0.18	0.43032	D	0.994607	B	0.09022	0.002	B	0.12837	0.008	T	0.71094	-0.4692	9	.	.	.	-20.1739	11.4337	0.50056	0.0:0.8615:0.0:0.1385	.	69	P49789	FHIT_HUMAN	L	69	ENSP00000418582:V69L;ENSP00000417557:V69L;ENSP00000417480:V69L;ENSP00000342087:V69L;ENSP00000418596:V69L	.	V	-	1	0	FHIT	59974817	1.000000	0.71417	0.992000	0.48379	0.007000	0.05969	2.964000	0.49192	0.875000	0.35847	-0.812000	0.03155	GTG		0.512	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012		56	279	1	0	1.54043e-34	1	1.66219e-34	56	279					A	59999777	C	A	59999777	3	1	112	1	0	0	0	0	1	0	0	0	5902	507	18	3	254	3	FHIT	3	59999777	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3210761	59999777	138022653	57	36666											
DZIP3	9666	broad.mit.edu	37	chr3	108363319	108363319	+	Frame_Shift_Del	DEL	A	A	-													taaatgtgttccctgcacccAaaaaaggatggaatatggaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:108363319delA	ENST00000361582.3	+	14	1680	c.1450delA	c.(1450-1452)aaafs	p.K485fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.K485fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	485					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						CCCTGCACCCAAAAAAGGATG	0.408																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(1450-1452)aafs		DAZ interacting zinc finger protein 3							114	114	114					3																	108363319		2203	4300	6503	SO:0001589	frameshift_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108363319delA	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.1450delA	3.37:g.108363319delA	ENSP00000355028:p.Lys485fs					DZIP3_ENST00000463306.1_Frame_Shift_Del_p.K485fs	p.K485fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			14	1680	+			485					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Frame_Shift_Del	DEL	ENST00000361582.3	37	c.1450delA	CCDS2952.1																																																																																				0.408	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		7	637						7	637	---	---	---	---	-	108363319	A	-	108363319	7	5	112	1	0	1	0	1	0	0	0	0	4881	131	5	0	1500	0	DZIP3	3	108363319	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08	48363542	108363319	89659111	58	36667											
ATP11B	23200	broad.mit.edu	37	chr3	182597407	182597407	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aattgttcagctgtattatgCtgtcgtatggctccactgca	9	9	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:182597407C>A	ENST00000323116.5	+	20	2636	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	792					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)			CTGTATTATGCTGTCGTATGG	0.363																																						ENST00000323116.5																			0				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						c.(2374-2376)tgC>tgA		ATPase, class VI, type 11B							110	109	109					3																	182597407		2203	4300	6503	SO:0001587	stop_gained	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182597407C>A	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.2376C>A	3.37:g.182597407C>A	ENSP00000321195:p.Cys792*						p.C792*	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	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)		20	2636	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		792					Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	ENST00000323116.5	37	c.2376C>A	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.000121|5.000121	0.93227|0.93227	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116;ENST00000482070	.|.	.|.	.|.	4.78|4.78	3.9|3.9	0.45041|0.45041	.|.	.|0.098289	.|0.85682	.|D	.|0.000000	T|.	0.31327|.	0.0793|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.13899|.	-1.0492|.	4|.	.|0.02654	.|T	.|1	.|.	10.2941|10.2941	0.43613|0.43613	0.0:0.7862:0.0:0.2138|0.0:0.7862:0.0:0.2138	.|.	.|.	.|.	.|.	D|X	593|792;27	.|.	.|ENSP00000321195:C792X	A|C	+|+	2|3	0|2	ATP11B|ATP11B	184080101|184080101	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.236000|1.236000	0.32683|0.32683	1.199000|1.199000	0.43173|0.43173	0.585000|0.585000	0.79938|0.79938	GCT|TGC		0.363	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		6	345	1	0	5.18039e-06	1	5.23036e-06	6	345					A	182597407	C	A	182597407	4	1	112	1	0	0	0	0	0	1	0	0	1121	805	28	3	2454	3	ATP11B	3	182597407	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	74234088	182597407	15425023	59	36668											
ZNF595	152687	broad.mit.edu	37	chr4	59365	59365	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tggccatagaattctcccctGaagagtggaaatgtctggac	11	9	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:59365G>A	ENST00000509152.2	+	2	231	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	16	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)		ATTCTCCCCTGAAGAGTGGAA	0.423																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(46-48)Gaa>Aaa		zinc finger protein 595							351	382	372					4																	59365		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59365G>A	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		ENST00000509152.2:c.46G>A	4.37:g.59365G>A	ENSP00000434858:p.Glu16Lys					ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K|ZNF595_ENST00000339368.6_3'UTR	p.E16K						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	231	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.46G>A		.	.	.	.	.	.	.	.	.	.	G	15.48	2.845681	0.51164	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.03607	3.87;3.87	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.13243	0.0321	.	.	.	0.23991	N	0.996247	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.06023	-1.0850	8	0.72032	D	0.01	.	7.9738	0.30143	0.0:0.0:1.0:0.0	.	16;16	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	K	16	ENSP00000434858:E16K;ENSP00000437878:E16K	ENSP00000434858:E16K	E	+	1	0	ZNF595	49365	0.808000	0.29022	0.022000	0.16811	0.119000	0.20118	1.629000	0.37071	0.655000	0.30866	0.484000	0.47621	GAA		0.423	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		23	1558	0	0	0	1	0	23	1558					A	59365	G	A	59365	3	1	112	1	0	0	0	0	1	0	0	0	18078	1291	45	2	52	2	ZNF595	4	59365	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		59365	191094911	60	36669											
TMEM175	84286	broad.mit.edu	37	chr4	952216	952216	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgcggggcctcgcccggcccGaacaccccccgccagccccc	11	24	0	0	rs201137093	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:952216G>A	ENST00000264771.4	+	11	1632	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K|TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	483						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)			CGCCCGGCCCGAACACCCCCC	0.741													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		12536	0.0		0.0	False		,,,				2504	0.0					ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(1447-1449)Gaa>Aaa		transmembrane protein 175		G	LYS/GLU	10,4242		0,10,2116	8	10	9		1447	0	0	4		9	1,8277		0,1,4138	no	missense	TMEM175	NM_032326.2	56	0,11,6254	AA,AG,GG		0.0121,0.2352,0.0878	benign	483/505	952216	11,12519	2126	4139	6265	SO:0001583	missense	84286					integral to membrane		g.chr4:952216G>A	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.1447G>A	4.37:g.952216G>A	ENSP00000264771:p.Glu483Lys					TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K|TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K	p.E483K	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1632	+			483					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.1447G>A	CCDS3341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.977|1.977	-0.434967|-0.434967	0.04669|0.04669	0.002352|0.002352	1.21E-4|1.21E-4	ENSG00000127419|ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204|ENST00000505148	T;T;T|.	0.44482|.	1.54;1.5;0.92|.	4.04|4.04	-0.00485|-0.00485	0.14020|0.14020	.|.	0.969423|.	0.08374|.	U|.	0.955581|.	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.20261|.	0.043;0.025|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.11485|.	T|.	0.65|.	-1.1234|-1.1234	4.2497|4.2497	0.10689|0.10689	0.0927:0.4443:0.3119:0.1511|0.0927:0.4443:0.3119:0.1511	.|.	401;483|.	D3DVN5;Q9BSA9|.	.;TM175_HUMAN|.	K|Q	483;367;401|319	ENSP00000264771:E483K;ENSP00000427039:E367K;ENSP00000423669:E401K|.	ENSP00000264771:E483K|.	E|R	+|+	1|2	0|0	TMEM175|TMEM175	942216|942216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.019000|0.019000	0.13444|0.13444	-0.154000|-0.154000	0.11118|0.11118	-0.440000|-0.440000	0.05779|0.05779	GAA|CGA		0.741	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		43	65	0	0	0	1	0	43	65					A	952216	G	A	952216	3	1	112	1	0	0	0	0	1	0	0	0	16143	1059	37	1	1485	1	TMEM175	4	952216	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	892851	952216	190202060	61	36670											
DRD5	1816	broad.mit.edu	37	chr4	9784726	9784726	+	Frame_Shift_Del	DEL	T	T	-													ctcctcactcaaccccgtcaTctatgccttcaacgccgact							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:9784726delT	ENST00000304374.2	+	1	1469	c.1073delT	c.(1072-1074)atcfs	p.I358fs		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	358					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AACCCCGTCATCTATGCCTTC	0.617																																						ENST00000304374.2																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1072-1074)acfs		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						82	76	78					4																	9784726		2203	4300	6503	SO:0001589	frameshift_variant	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784726delT	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1073delT	4.37:g.9784726delT	ENSP00000306129:p.Ile358fs						p.I358fs	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	1469	+			358					B2R9S3|Q8NEQ8	Frame_Shift_Del	DEL	ENST00000304374.2	37	c.1073delT	CCDS3405.1																																																																																				0.617	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			8	600						8	600	---	---	---	---	-	9784726	T	-	9784726	7	5	112	1	0	1	0	1	0	0	0	0	4776	1435	50	0	1075	0	DRD5	4	9784726	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	8832510	9784726	181369550	62	36671											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	289						7	289	---	---	---	---	-	56304532	CTG	-	56304530	7	5	112	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-US-A776-01A-13D-A33T-08	46519804	56304530	134849746	63	36672											
ADH1A	124	broad.mit.edu	37	chr4	100208113	100208113	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atggtaccactaaccacgtgGtcatctgtgccacagattcc	8	13	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:100208113G>A	ENST00000209668.2	-	3	266	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	51					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TAACCACGTGGTCATCTGTGC	0.478																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(151-153)gaC>gaT		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						151	135	141					4																	100208113		2203	4300	6503	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208113G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.153C>T	4.37:g.100208113G>A						RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	p.D51D	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	266	-			51					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.153C>T	CCDS3648.1																																																																																				0.478	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		42	746	0	0	0	1	0	42	746					A	100208113	G	A	100208113	2	1	112	1	0	0	0	0	0	0	0	1	307	1252	44	2		2	ADH1A	4	100208113	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	43903583	100208113	90946163	64	36673											
CENPE	1062	broad.mit.edu	37	chr4	104104440	104104440	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attacagccttccttgagccGcacacctgaatttattaaac	5	12	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:104104440G>A	ENST00000265148.3	-	10	840	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	CENPE_ENST00000380026.3_Missense_Mutation_p.R251W|CENPE_ENST00000509120.1_5'Flank	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	251	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)		TCCTTGAGCCGCACACCTGAA	0.333																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(751-753)Cgg>Tgg		centromere protein E, 312kDa							99	96	97					4																	104104440		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104104440G>A	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.751C>T	4.37:g.104104440G>A	ENSP00000265148:p.Arg251Trp					CENPE_ENST00000380026.3_Missense_Mutation_p.R251W	p.R251W	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	10	840	-			251			Kinesin-motor.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.751C>T	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187967	0.78789	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	4.23	0.50019	Kinesin, motor domain (4);	.	.	.	.	D	0.92071	0.7487	H	0.99011	4.4	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.93802	0.7102	9	0.87932	D	0	.	11.2566	0.49058	0.0839:0.0:0.9161:0.0	.	251;251	Q02224-3;Q02224	.;CENPE_HUMAN	W	251	ENSP00000265148:R251W;ENSP00000369365:R251W;ENSP00000423981:R251W	ENSP00000265148:R251W	R	-	1	2	CENPE	104323889	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.989000	0.56958	2.347000	0.79759	0.650000	0.86243	CGG		0.333	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	255	0	0	0	1	0	5	255					A	104104440	G	A	104104440	3	1	112	1	0	0	0	0	1	0	0	0	3239	1086	38	1	7514	1	CENPE	4	104104440	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3896327	104104440	87049836	65	36674											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		13	440						13	440	---	---	---	---	-	146077125	CAG	-	146077123	7	5	112	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-US-A776-01A-13D-A33T-08	41972683	146077123	45077153	66	36675											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	27	5	0	0	rs544520355	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000355292.3_Silent_p.P701P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14	17	16					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			9	129	0	0	0	1	0	9	129					G	149075976	T	G	149075976	2	3	112	1	0	0	0	0	0	0	0	1	10673	1683	59	4		4	NR3C2	4	149075976	Silent	SNP	T	TCGA-US-A776-01A-13D-A33T-08	2998853	149075976	42078300	67	36676											
FGA	2243	broad.mit.edu	37	chr4	155507526	155507526	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttccggtactaccaggtctaGggctcccagggttttggttt	12	10	1	0	rs373154873		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:155507526G>T	ENST00000302053.3	-	5	1133	c.1055C>A	c.(1054-1056)cCt>cAt	p.P352H	FGA_ENST00000403106.3_Missense_Mutation_p.P352H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	352					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGGTCTAGGGCTCCCAGG	0.557																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	GRCh37	CD001896	FGA	D		c.(1054-1056)cCt>cAt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						79	84	82					4																	155507526		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507526G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1055C>A	4.37:g.155507526G>T	ENSP00000306361:p.Pro352His					FGA_ENST00000403106.3_Missense_Mutation_p.P352H	p.P352H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1133	-	all_hematologic(180;0.215)	Renal(120;0.0458)	352					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1055C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806702	0.50421	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.83335	-1.71;-1.71	4.88	1.93	0.25924	.	6.051070	0.00610	N	0.000411	T	0.79347	0.4430	L	0.55990	1.75	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.09377	0.003;0.004	T	0.61426	-0.7065	10	0.66056	D	0.02	.	3.3862	0.07272	0.09:0.1447:0.4692:0.2961	.	352;352	P02671-2;P02671	.;FIBA_HUMAN	H	352	ENSP00000306361:P352H;ENSP00000385981:P352H	ENSP00000306361:P352H	P	-	2	0	FGA	155726976	0.128000	0.22383	0.001000	0.08648	0.271000	0.26615	3.142000	0.50601	0.997000	0.38969	0.557000	0.71058	CCT		0.557	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		7	961	1	0	3.59834e-05	1	3.6214e-05	7	961					T	155507526	G	T	155507526	3	4	112	1	0	0	0	0	1	0	0	0	5855	1000	35	3	1597	3	FGA	4	155507526	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	6431550	155507526	35646750	68	36677											
PDGFC	56034	broad.mit.edu	37	chr4	157689020	157689020	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcgtttaaccaGgagacaacctggccagaaaa	8	14	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:157689020G>T	ENST00000502773.1	-	5	1316	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	276					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)		CGTTTAACCAGGAGACAACCT	0.448																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(826-828)Ctg>Atg		platelet derived growth factor C							171	156	161					4																	157689020		2203	4299	6502	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689020G>T	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.826C>A	4.37:g.157689020G>T	ENSP00000422464:p.Leu276Met					PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_5'UTR	p.L276M	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1316	-	all_hematologic(180;0.24)	Renal(120;0.0458)	276					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.826C>A	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786502	0.70337	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.48836	2.31;0.81;0.8	5.35	2.69	0.31865	Platelet-derived growth factor (PDGF) (3);	0.000000	0.64402	D	0.000002	T	0.64811	0.2632	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65207	-0.6224	10	0.87932	D	0	-11.8977	8.3211	0.32130	0.2934:0.0:0.7066:0.0	.	121;276	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	M	276;113;121	ENSP00000422464:L276M;ENSP00000442943:L113M;ENSP00000439728:L121M	ENSP00000422464:L276M	L	-	1	2	PDGFC	157908470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.866000	0.48420	0.645000	0.30675	0.655000	0.94253	CTG		0.448	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			41	677	1	0	4.14481e-20	1	4.41176e-20	41	677					T	157689020	G	T	157689020	3	4	112	1	0	0	0	0	1	0	0	0	11701	991	35	3	219	3	PDGFC	4	157689020	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2181494	157689020	33465256	69	36678											
DDX60	55601	broad.mit.edu	37	chr4	169197237	169197237	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcatctggctatgagttgccGatcatcttcttgtaaaagtt	9	8	4	1	rs140580597		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:169197237G>A	ENST00000393743.3	-	15	2365	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	692					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)		ATGAGTTGCCGATCATCTTCT	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16711	0.0		0.0	False		,,,				2504	0.0					ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2074-2076)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		G	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	143	140	141		2074	1.2	0.1	4	dbSNP_134	141	0,8600		0,0,4300	no	missense	DDX60	NM_017631.5	101	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging	692/1713	169197237	4,13002	2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169197237G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2074C>T	4.37:g.169197237G>A	ENSP00000377344:p.Arg692Trp						p.R692W	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	15	2365	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	692					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2074C>T	CCDS34097.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	10.57	1.387186	0.25031	9.08E-4	0.0	ENSG00000137628	ENST00000393743	T	0.18960	2.18	5.15	1.19	0.21007	.	1.713730	0.03101	N	0.161165	T	0.21509	0.0518	L	0.54323	1.7	0.09310	N	1	D	0.65815	0.995	B	0.43445	0.42	T	0.14783	-1.0460	10	0.37606	T	0.19	.	2.5362	0.04715	0.2638:0.125:0.4836:0.1276	.	692	Q8IY21	DDX60_HUMAN	W	692	ENSP00000377344:R692W	ENSP00000377344:R692W	R	-	1	2	DDX60	169433812	0.000000	0.05858	0.053000	0.19242	0.030000	0.12068	-0.134000	0.10436	0.266000	0.21894	0.557000	0.71058	CGG		0.368	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		6	371	0	0	0	1	0	6	371					A	169197237	G	A	169197237	3	1	112	1	0	0	0	0	1	0	0	0	4389	1057	37	1	3160	1	DDX60	4	169197237	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	11508217	169197237	21957039	70	36679											
CLCN3	1182	broad.mit.edu	37	chr4	170618538	170618538	+	Frame_Shift_Del	DEL	T	T	-													ttggagggctttggggagccTttttcattagggcaaatatt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:170618538delT	ENST00000513761.1	+	9	1775	c.1216delT	c.(1216-1218)tttfs	p.F407fs	CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	407					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)		TTGGGGAGCCTTTTTCATTAG	0.438																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1216-1218)ttfs		chloride channel, voltage-sensitive 3							145	144	144					4																	170618538		2203	4300	6503	SO:0001589	frameshift_variant	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170618538delT	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.1216delT	4.37:g.170618538delT	ENSP00000424603:p.Phe407fs					CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs|CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs	p.F407fs	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	9	1775	+		Prostate(90;0.00601)|Renal(120;0.0183)	407					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Frame_Shift_Del	DEL	ENST00000513761.1	37	c.1216delT	CCDS34101.1																																																																																				0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			7	1064						7	1064	---	---	---	---	-	170618538	T	-	170618538	7	5	112	1	0	1	0	1	0	0	0	0	3473	1609	56	0	1246	0	CLCN3	4	170618538	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	1421301	170618538	20535738	71	36680											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	276						7	276	---	---	---	---	-	1879671	CCT	-	1879669	7	5	112	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-US-A776-01A-13D-A33T-08		1879669	179035591	72	36681											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	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.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	1134						7	1134	---	---	---	---	-	24492973	A	-	24492973	7	5	112	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08	22613304	24492973	156422287	73	36682											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	881						10	881	---	---	---	---	-	32090061	TCC	-	32090059	7	5	112	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-US-A776-01A-13D-A33T-08	7597086	32090059	148825201	74	36683											
C6	729	broad.mit.edu	37	chr5	41172372	41172372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgcacctatgttccaCttttgttttcttagcaaata	8	8	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:41172372C>T	ENST00000263413.3	-	9	1510	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	C6_ENST00000337836.5_Missense_Mutation_p.V416M|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	416	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)				CTATGTTCCACTTTTGTTTTC	0.433																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1246-1248)Gtg>Atg		complement component 6							303	246	265					5																	41172372		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41172372C>T	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.1246G>A	5.37:g.41172372C>T	ENSP00000263413:p.Val416Met					C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.V416M	p.V416M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			9	1510	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	416			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1246G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745778	0.69418	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84146	-1.81;-1.81	5.04	4.16	0.48862	Membrane attack complex component/perforin (MACPF) domain (3);	0.379178	0.30820	N	0.008805	D	0.82958	0.5150	N	0.22421	0.69	0.30255	N	0.793737	P	0.52316	0.952	P	0.54924	0.764	T	0.80970	-0.1144	10	0.44086	T	0.13	-3.729	12.8785	0.58003	0.0:0.9193:0.0:0.0807	.	416	P13671	CO6_HUMAN	M	416	ENSP00000338861:V416M;ENSP00000263413:V416M	ENSP00000263413:V416M	V	-	1	0	C6	41208129	0.560000	0.26570	0.046000	0.18839	0.271000	0.26615	3.143000	0.50608	1.229000	0.43630	0.655000	0.94253	GTG		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			151	208	0	0	0	1	0	151	208					T	41172372	C	T	41172372	3	4	112	1	0	0	0	0	1	0	0	0	2322	565	20	2	1598	2	C6	5	41172372	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	9082313	41172372	139742888	75	36684											
ARSB	411	broad.mit.edu	37	chr5	78280984	78280984	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcggcgccaacaacaGcagcagcagcagcgggagga	16	14	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:78280984G>A	ENST00000264914.4	-	1	624	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	ARSB_ENST00000565165.1_Silent_p.L30L|ARSB_ENST00000396151.3_Silent_p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	30					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)		gccAACAACAGCAGCAGCAGC	0.751																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(88-90)Ctg>Ttg		arylsulfatase B							3	4	3					5																	78280984		1372	3025	4397	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78280984G>A	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.88C>T	5.37:g.78280984G>A						ARSB_ENST00000396151.3_Silent_p.L30L|ARSB_ENST00000565165.1_Silent_p.L30L	p.L30L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	1	624	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	30					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.88C>T	CCDS4043.1																																																																																				0.751	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		3	38	0	0	0	1	0	3	38					A	78280984	G	A	78280984	2	1	112	1	0	0	0	0	0	0	0	1	989	962	34	2		2	ARSB	5	78280984	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	37108612	78280984	102634276	76	36685											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			12	1017						12	1017	---	---	---	---	-	79372776	TGA	-	79372774	7	5	112	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-US-A776-01A-13D-A33T-08	1091790	79372774	101542486	77	36686											
PGGT1B	5229	broad.mit.edu	37	chr5	114598513	114598513	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccagccgctctccctcaccGctccctgctagcctctcatc	5	22	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:114598513G>A	ENST00000419445.1	-	1	56	c.36C>T	c.(34-36)agC>agT	p.S12S	PGGT1B_ENST00000379615.3_Silent_p.S12S|CTC-428G20.6_ENST00000606615.1_RNA	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	12					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		CTCCCTCACCGCTCCCTGCTA	0.617																																						ENST00000419445.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6						c.(34-36)agC>agT		protein geranylgeranyltransferase type I, beta subunit	Pravastatin(DB00175)						33	32	32					5																	114598513		2202	4300	6502	SO:0001819	synonymous_variant	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114598513G>A		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.36C>T	5.37:g.114598513G>A						PGGT1B_ENST00000379615.3_Silent_p.S12S|CTC-428G20.6_ENST00000606615.1_RNA	p.S12S	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	1	56	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	12					Q5MJP9	Silent	SNP	ENST00000419445.1	37	c.36C>T	CCDS4116.1																																																																																				0.617	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		4	210	0	0	0	1	0	4	210					A	114598513	G	A	114598513	2	1	112	1	0	0	0	0	0	0	0	1	11831	1078	38	1		1	PGGT1B	5	114598513	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	35225739	114598513	66316747	78	36687											
PRR16	51334	broad.mit.edu	37	chr5	120022194	120022194	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agggaggtccacttacacagTgaacctgtccacccaccggg	11	14	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:120022194T>A	ENST00000407149.2	+	2	914	c.705T>A	c.(703-705)agT>agA	p.S235R	PRR16_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000379551.2_Missense_Mutation_p.S212R			Q569H4	LARGN_HUMAN	proline rich 16	235	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)		ACTTACACAGTGAACCTGTCC	0.498																																						ENST00000379551.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(634-636)agT>agA		proline rich 16							84	81	82					5																	120022194		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120022194T>A	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.705T>A	5.37:g.120022194T>A	ENSP00000385118:p.Ser235Arg					PRR16_ENST00000446965.1_Missense_Mutation_p.S165R|PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000407149.2_Missense_Mutation_p.S235R	p.S212R	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	3	993	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	235			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.636T>A		.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672070	0.00758	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.94	-9.87	0.00470	.	0.400671	0.29059	N	0.013275	T	0.29321	0.0730	L	0.44542	1.39	0.21802	N	0.999536	B;B	0.06786	0.001;0.001	B;B	0.12156	0.002;0.007	T	0.20571	-1.0271	9	.	.	.	-0.3315	18.6912	0.91583	0.0:0.1262:0.0786:0.7953	.	235;212	Q569H4;Q569H4-3	PRR16_HUMAN;.	R	235;212;165;165	ENSP00000385118:S235R;ENSP00000368869:S212R;ENSP00000423446:S165R;ENSP00000405491:S165R	.	S	+	3	2	PRR16	120050093	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.104000	0.00294	-4.142000	0.00070	-2.918000	0.00090	AGT		0.498	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		18	256	0	0	0	1	0	18	256					A	120022194	T	A	120022194	3	1	112	1	0	0	0	0	1	0	0	0	12636	1693	59	5	642	5	PRR16	5	120022194	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	5423681	120022194	60893066	79	36688											
FBN2	2201	broad.mit.edu	37	chr5	127673720	127673720	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcacgggatggtgacagctcGtgtcccagtgggcagtcaca	14	11	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:127673720G>A	ENST00000508053.1	-	33	4541	c.3567C>T	c.(3565-3567)caC>caT	p.H1189H	FBN2_ENST00000507835.1_Silent_p.H39H|FBN2_ENST00000508989.1_Silent_p.H1156H|FBN2_ENST00000262464.4_Silent_p.H1189H			P35556	FBN2_HUMAN	fibrillin 2	1189	EGF-like 17; 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)		GTGACAGCTCGTGTCCCAGTG	0.522																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(3565-3567)caC>caT		fibrillin 2							83	71	75					5																	127673720		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127673720G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3567C>T	5.37:g.127673720G>A						FBN2_ENST00000508989.1_Silent_p.H1156H|FBN2_ENST00000507835.1_Silent_p.H39H|FBN2_ENST00000262464.4_Silent_p.H1189H	p.H1189H			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	33	4541	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1189			EGF-like 17; calcium-binding.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.3567C>T	CCDS34222.1																																																																																				0.522	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	211	0	0	0	1	0	7	211					A	127673720	G	A	127673720	2	1	112	1	0	0	0	0	0	0	0	1	5728	1136	40	1		1	FBN2	5	127673720	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7651526	127673720	53241540	80	36689											
PCDHB2	56133	broad.mit.edu	37	chr5	140474589	140474590	+	Frame_Shift_Ins	INS	-	-	A													gccagggtcgtttccaaaggINSaaaaaaaatgcatttgcagt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140474589_140474590insA	ENST00000194155.4	+	1	363_364	c.215_216insA	c.(214-219)ggaaaafs	p.GK72fs		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(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)			GTTTCCAAAGGAAAAAAAATGC	0.525																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(214-216)gaafs																																						SO:0001589	frameshift_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474589_140474590insA	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.223dupA	5.37:g.140474597_140474597dupA	ENSP00000194155:p.Gly72fs						p.E72fs	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	363_364	+			72			Cadherin 1.		Q4KMU1	Frame_Shift_Ins	INS	ENST00000194155.4	37	c.215_216insA	CCDS4244.1																																																																																				0.525	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		30	457						30	457	---	---	---	---	A	140474590	-	A	140474589	7	5	112	1	0	1	1	0	0	0	0	0	11584	1174	41	0	217	0	PCDHB2	5	140474589	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	12800869	140474589	40440671	81	36690											
PCDHB13	56123	broad.mit.edu	37	chr5	140595334	140595334	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cgctgagcagcgaggcgctgGtgcgcgtggtggtgctggac	20	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140595334G>C	ENST00000341948.4	+	1	1826	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGCGCTGGTGCGCGTGGT	0.711																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(1639-1641)Gtg>Ctg									36	42	40					5																	140595334		2202	4298	6500	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595334G>C	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.1639G>C	5.37:g.140595334G>C	ENSP00000345491:p.Val547Leu						p.V547L	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1826	+			547			Cadherin 5.		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.1639G>C	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.98	2.697594	0.48307	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.57107	0.42	3.0	1.08	0.20341	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.57475	0.2056	L	0.60012	1.86	0.27453	N	0.953362	D	0.65815	0.995	P	0.59012	0.85	T	0.48758	-0.9007	9	0.23891	T	0.37	.	6.7901	0.23695	0.1012:0.3395:0.5593:0.0	.	547	Q9Y5F0	PCDBD_HUMAN	L	547	ENSP00000345491:V547L	ENSP00000345491:V547L	V	+	1	0	PCDHB13	140575518	0.984000	0.35163	0.014000	0.15608	0.002000	0.02628	2.074000	0.41529	0.106000	0.17784	-0.535000	0.04281	GTG		0.711	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		100	430	0	0	0	1	0	100	430					C	140595334	G	C	140595334	3	2	112	1	0	0	0	0	1	0	0	0	11580	1261	44	5	1641	5	PCDHB13	5	140595334	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	120745	140595334	40319926	82	36691											
TCERG1	10915	broad.mit.edu	37	chr5	145843226	145843226	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaaaccgttccccagccGcaccctcagacgttacctcc	7	19	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:145843226G>A	ENST00000296702.5	+	5	1043	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	TCERG1_ENST00000394421.2_Silent_p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	335	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCCCAGCCGCACCCTCAGA	0.517																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1003-1005)ccG>ccA		transcription elongation regulator 1							257	218	231					5																	145843226		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843226G>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1005G>A	5.37:g.145843226G>A						TCERG1_ENST00000394421.2_Silent_p.P335P	p.P335P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1043	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	335			Pro-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.1005G>A	CCDS4282.1																																																																																				0.517	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	871	0	0	0	1	0	6	871					A	145843226	G	A	145843226	2	1	112	1	0	0	0	0	0	0	0	1	15737	1074	38	1		1	TCERG1	5	145843226	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	5247892	145843226	35072034	83	36692											
ZNF300	91975	broad.mit.edu	37	chr5	150275578	150275578	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacattcggtacactcatacGgcttctctccagtatgagct	7	13	2	1	rs141369580		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:150275578G>A	ENST00000274599.5	-	6	1643	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	ZNF300_ENST00000394226.2_Missense_Mutation_p.P408L|ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.P424L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			ACACTCATACGGCTTCTCTCC	0.448																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(1270-1272)cCg>cTg		zinc finger protein 300		G	LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	57	55	56		1271,1115,1223	3	0.9	5	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense	ZNF300	NM_001172831.1,NM_001172832.1,NM_052860.2	98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	424/621,372/569,408/605	150275578	1,13005	2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150275578G>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1223C>T	5.37:g.150275578G>A	ENSP00000274599:p.Pro408Leu					ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L|ZNF300_ENST00000394226.2_Missense_Mutation_p.P408L|ZNF300_ENST00000274599.5_Missense_Mutation_p.P408L|ZNF300_ENST00000427179.1_3'UTR	p.P424L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1698	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	408					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.1271C>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494842	0.64186	2.27E-4	0.0	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	3.87	2.95	0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	M	0.81614	2.55	0.45946	D	0.998776	D	0.89917	1.0	D	0.77004	0.989	T	0.33624	-0.9861	9	0.87932	D	0	.	10.3154	0.43734	0.0:0.0:0.8014:0.1986	.	408	Q96RE9	ZN300_HUMAN	L	424;408;372;408	ENSP00000397178:P424L;ENSP00000274599:P408L;ENSP00000392593:P372L;ENSP00000377773:P408L	ENSP00000274599:P408L	P	-	2	0	ZNF300	150255771	1.000000	0.71417	0.945000	0.38365	0.930000	0.56654	6.825000	0.75293	0.913000	0.36797	0.591000	0.81541	CCG		0.448	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		8	397	0	0	0	1	0	8	397					A	150275578	G	A	150275578	3	1	112	1	0	0	0	0	1	0	0	0	17884	1116	39	1	595	1	ZNF300	5	150275578	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	4432352	150275578	30639682	84	36693											
GLRA1	2741	broad.mit.edu	37	chr5	151208496	151208496	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctaccttgtgatgtctccGcttcctcctgaatcggagca	9	14	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:151208496G>A	ENST00000455880.2	-	8	1331	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W|GLRA1_ENST00000274576.4_Missense_Mutation_p.R349W			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	349					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGTCTCCGCTTCCTCCTG	0.463																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1045-1047)Cgg>Tgg		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						175	171	172					5																	151208496		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208496G>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1045C>T	5.37:g.151208496G>A	ENSP00000411593:p.Arg349Trp					GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W|GLRA1_ENST00000455880.2_Missense_Mutation_p.R349W	p.R349W	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1337	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	349					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1045C>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852768	0.71719	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85861	-2.04;-1.93;-2.04	5.07	1.62	0.23740	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	N	0.14661	0.345	0.45452	D	0.998427	D;D;D	0.65815	0.995;0.994;0.994	P;P;P	0.58820	0.846;0.846;0.761	T	0.82610	-0.0372	10	0.56958	D	0.05	.	13.0356	0.58870	0.0:0.0:0.3181:0.6818	.	349;266;349	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	W	349;349;266	ENSP00000274576:R349W;ENSP00000411593:R349W;ENSP00000445913:R266W	ENSP00000274576:R349W	R	-	1	2	GLRA1	151188689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.019000	0.41001	0.595000	0.29777	0.650000	0.86243	CGG		0.463	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			27	941	0	0	0	1	0	27	941					A	151208496	G	A	151208496	3	1	112	1	0	0	0	0	1	0	0	0	6483	1086	38	1	336	1	GLRA1	5	151208496	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	932918	151208496	29706764	85	36694											
GALNT10	55568	broad.mit.edu	37	chr5	153789282	153789282	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggacctgcccaaatTctacccacccgtggagcccc	9	18	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:153789282T>C	ENST00000297107.6	+	9	1483	c.1346T>C	c.(1345-1347)tTc>tCc	p.F449S	SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S|GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	449					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTGCCCAAATTCTACCCACCC	0.557																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1345-1347)tTc>tCc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)							75	83	80					5																	153789282		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789282T>C	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1346T>C	5.37:g.153789282T>C	ENSP00000297107:p.Phe449Ser					GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S|SAP30L-AS1_ENST00000524264.1_RNA	p.F449S	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1483	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	449					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1346T>C	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127633	0.37533	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.61627	0.48;0.57;0.09	5.02	3.82	0.43975	.	0.218754	0.48767	D	0.000180	T	0.25938	0.0632	N	0.02916	-0.46	0.43771	D	0.996297	B;P;P	0.44816	0.27;0.816;0.844	B;B;B	0.35470	0.199;0.203;0.175	T	0.05338	-1.0891	10	0.22109	T	0.4	.	9.2405	0.37493	0.289:0.0:0.0:0.711	.	387;120;449	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	S	449;387;122	ENSP00000297107:F449S;ENSP00000366889:F387S;ENSP00000366885:F122S	ENSP00000297107:F449S	F	+	2	0	GALNT10	153769475	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.897000	0.56273	0.885000	0.36088	0.459000	0.35465	TTC		0.557	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		124	570	0	0	0	1	0	124	570					C	153789282	T	C	153789282	3	2	112	1	0	0	0	0	1	0	0	0	6236	1783	62	4	1380	4	GALNT10	5	153789282	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	2580786	153789282	27125978	86	36695											
C5orf54	63920	broad.mit.edu	37	chr5	159822466	159822466	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaaccagtagcgaacaTagtcatcatcccatttgcgt	9	10	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:159822466T>C	ENST00000408953.3	-	2	539	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	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						gtagcgaacatagtcatcatc	0.423																																						ENST00000408953.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(31-33)tAt>tGt		chromosome 5 open reading frame 54							135	122	126					5																	159822466		2203	4300	6503	SO:0001583	missense	63920							g.chr5:159822466T>C																												ENST00000408953.3:c.32A>G	5.37:g.159822466T>C	ENSP00000386184:p.Tyr11Cys					C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	p.Y11C	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN			2	539	-			11						Missense_Mutation	SNP	ENST00000408953.3	37	c.32A>G	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467596	0.43839	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.29142	1.58;1.58	3.19	3.19	0.36642	.	.	.	.	.	T	0.48960	0.1529	M	0.64170	1.965	0.27059	N	0.963595	D	0.89917	1.0	D	0.87578	0.998	T	0.25222	-1.0138	9	0.72032	D	0.01	.	8.1657	0.31226	0.0:0.0:0.0:1.0	.	11	Q8IZ13	CE054_HUMAN	C	11	ENSP00000386184:Y11C;ENSP00000428831:Y11C	ENSP00000386184:Y11C	Y	-	2	0	C5orf54	159755044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	1.706000	0.51276	0.533000	0.62120	TAT		0.423	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1			264	315	0	0	0	1	0	264	315					C	159822466	T	C	159822466	3	2	112	1	0	0	0	0	1	0	0	0	2317	1406	49	4	1756	4	C5orf54	5	159822466	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	6033184	159822466	21092794	87	36696											
NRSN1	140767	broad.mit.edu	37	chr6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaaatcgaagcatttggcGaagccgattttgtggtggtc	12	8	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507																																						ENST00000378491.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						c.(283-285)Gaa>Aaa		neurensin 1							99	93	95					6																	24145869		2203	4300	6503	SO:0001583	missense	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24145869G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.283G>A	6.37:g.24145869G>A	ENSP00000367752:p.Glu95Lys						p.E95K	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN			4	584	+			95						Missense_Mutation	SNP	ENST00000378491.4	37	c.283G>A	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990408	0.35131	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.18960	2.18	5.37	5.37	0.77165	.	0.095551	0.64402	D	0.000001	T	0.10508	0.0257	L	0.46157	1.445	0.80722	D	1	B	0.21309	0.054	B	0.12156	0.007	T	0.03025	-1.1081	10	0.41790	T	0.15	-7.9822	12.8894	0.58064	0.0846:0.0:0.9154:0.0	.	95	Q8IZ57	NRSN1_HUMAN	K	95	ENSP00000367752:E95K	ENSP00000367738:E95K	E	+	1	0	NRSN1	24253848	1.000000	0.71417	0.930000	0.37139	0.172000	0.22775	4.652000	0.61454	2.524000	0.85096	0.557000	0.71058	GAA		0.507	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		7	549	0	0	0	1	0	7	549					A	24145869	G	A	24145869	3	1	112	1	0	0	0	0	1	0	0	0	10704	1059	37	1	289	1	NRSN1	6	24145869	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		24145869	146969198	88	36697											
BTN2A1	11120	broad.mit.edu	37	chr6	26458872	26458872	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gctctgggtgctcatggaatCagctgctgccctgcacttct	11	13	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:26458872C>T	ENST00000312541.5	+	2	256	c.8C>T	c.(7-9)tCa>tTa	p.S3L	BTN2A1_ENST00000429381.1_Missense_Mutation_p.S3L|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L|BTN2A1_ENST00000541522.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	3					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTCATGGAATCAGCTGCTGCC	0.622																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(7-9)tCa>tTa		butyrophilin, subfamily 2, member A1							232	171	191					6																	26458872		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26458872C>T	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.8C>T	6.37:g.26458872C>T	ENSP00000312158:p.Ser3Leu					BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S3L|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S3L	p.S3L			Q7KYR7	BT2A1_HUMAN			2	220	+			3					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.8C>T	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510906	0.27036	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.77098	-0.48;-1.07;-1.06	3.03	0.102	0.14522	.	0.876207	0.09516	N	0.791659	T	0.41581	0.1165	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.12013	0.005;0.005	B;B	0.11329	0.004;0.006	T	0.31806	-0.9930	10	0.44086	T	0.13	.	5.0586	0.14546	0.0:0.4487:0.4235:0.1277	.	3;3	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	L	3	ENSP00000312158:S3L;ENSP00000416945:S3L;ENSP00000419043:S3L	ENSP00000265424:S3L	S	+	2	0	BTN2A1	26566851	0.020000	0.18652	0.003000	0.11579	0.023000	0.10783	0.059000	0.14322	-0.006000	0.14370	0.484000	0.47621	TCA		0.622	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		7	617	0	0	0	1	0	7	617					T	26458872	C	T	26458872	3	4	112	1	0	0	0	0	1	0	0	0	1564	838	29	2	10	2	BTN2A1	6	26458872	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2313003	26458872	144656195	89	36698											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-													aattcattatttacagggccTttttcccaactgggtattgt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(526-528)aafs		zinc finger protein 184							237	235	236					6																	27420810		2203	4300	6503	SO:0001589	frameshift_variant	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420810delT	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.528delA	6.37:g.27420810delT	ENSP00000211936:p.Lys176fs					ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	812	-			176					B2R715|O60792|Q8TBA9	Frame_Shift_Del	DEL	ENST00000211936.6	37	c.528delA	CCDS4624.1																																																																																				0.408	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		7	1440						7	1440	---	---	---	---	-	27420810	T	-	27420810	7	5	112	1	0	1	0	1	0	0	0	0	17804	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	961938	27420810	143694257	90	36699											
GABBR1	2550	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt					rs368201041		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					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)	p.L783M(1)		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)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	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						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	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.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			12	503						12	503	---	---	---	---	-	29573438	CAG	-	29573436	7	5	112	1	0	1	0	1	0	0	0	0	6182	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-US-A776-01A-13D-A33T-08	2152626	29573436	141541631	91	36700											
PRPH2	5961	broad.mit.edu	37	chr6	42689575	42689575	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgaaaaccgttgttgccGcagcatttgaactcgatctg	9	12	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	166					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGTTGTTGCCGCAGCATTTGA	0.507																																						ENST00000230381.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(496-498)tgC>tgT		peripherin 2 (retinal degeneration, slow)							149	136	140					6																	42689575		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689575G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.498C>T	6.37:g.42689575G>A							p.C166C	NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	737	-	Colorectal(47;0.196)		166					Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.498C>T	CCDS4871.1																																																																																				0.507	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		6	728	0	0	0	1	0	6	728					A	42689575	G	A	42689575	2	1	112	1	0	0	0	0	0	0	0	1	12624	1079	38	1		1	PRPH2	6	42689575	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	13116139	42689575	128425492	92	36701											
TBCC	6903	broad.mit.edu	37	chr6	42713174	42713174	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	catacagtctgaccgtgcagTtgctcagttcggtcaaaaga	10	10	3	2	rs147066602	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42713174T>C	ENST00000372876.1	-	1	660	c.638A>G	c.(637-639)aAc>aGc	p.N213S	TBCC_ENST00000244625.2_Missense_Mutation_p.N213S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	213	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GACCGTGCAGTTGCTCAGTTC	0.577																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(637-639)aAc>aGc		tubulin folding cofactor C		T	SER/ASN	6,4400	11.4+/-27.6	0,6,2197	62	61	61		638	2.8	0.3	6	dbSNP_134	61	0,8600		0,0,4300	yes	missense	TBCC	NM_003192.2	46	0,6,6497	CC,CT,TT		0.0,0.1362,0.0461	benign	213/347	42713174	6,13000	2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713174T>C	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"tubulin-specific chaperone c"			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.638A>G	6.37:g.42713174T>C	ENSP00000361967:p.Asn213Ser					TBCC_ENST00000372876.1_Missense_Mutation_p.N213S	p.N213S			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	1201	-	Colorectal(47;0.196)		213			C-CAP/cofactor C-like.		Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.638A>G	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557018	0.27827	0.001362	0.0	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.86865	-2.18;-2.18	5.21	2.75	0.32379	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.563969	0.19333	N	0.116844	T	0.72187	0.3429	M	0.65498	2.005	0.34424	D	0.697741	B	0.09022	0.002	B	0.17098	0.017	T	0.60362	-0.7278	10	0.35671	T	0.21	-9.0269	4.8275	0.13423	0.0:0.2054:0.1591:0.6355	.	213	Q15814	TBCC_HUMAN	S	213	ENSP00000361967:N213S;ENSP00000244625:N213S	ENSP00000244625:N213S	N	-	2	0	TBCC	42821152	0.996000	0.38824	0.273000	0.24645	0.604000	0.37047	2.556000	0.45862	0.365000	0.24400	0.383000	0.25322	AAC		0.577	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		5	206	0	0	0	1	0	5	206					C	42713174	T	C	42713174	3	2	112	1	0	0	0	0	1	0	0	0	15683	1725	60	4	406	4	TBCC	6	42713174	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	23599	42713174	128401893	93	36702											
AARS2	57505	broad.mit.edu	37	chr6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T													ccgctccagcagctcctgagINSttttctttgcagcctatggg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|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)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	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.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		8	855						8	855	---	---	---	---	T	44269189	-	T	44269188	7	5	112	1	0	1	1	0	0	0	0	0	20	1029	36	0	357	0	AARS2	6	44269188	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	1556014	44269188	126845879	94	36703											
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	11	14	0	0	rs563987595	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0.0	5008	,	,		8050	0.002		0.0	False		,,,				2504	0.002					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)caA>caG		runt-related transcription factor 2							16	24	21					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390445A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G						RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q	p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	532	+			58			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.174A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		7	327	0	0	0	1	0	7	327					G	45390445	A	G	45390445	2	3	112	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390445	Silent	SNP	A	TCGA-US-A776-01A-13D-A33T-08	1121257	45390445	125724622	95	36704											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	236	0	0	0	1	0	5	236					A	45390463	G	A	45390463	2	1	112	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	18	45390463	125724604	96	36705	229	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		6	223	0	0	0	1	0	6	223					G	45390466	A	G	45390466	2	3	112	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-US-A776-01A-13D-A33T-08	3	45390466	125724601	97	36706	229	2									
ORC3L	23595	broad.mit.edu	37	chr6	88375514	88375514	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaaaaaatggatgcaAattctgcaacctcagaagaa	8	8	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:88375514A>G	ENST00000392844.3	+	19	2041	c.1993A>G	c.(1993-1995)Aat>Gat	p.N665D	ORC3_ENST00000257789.4_Missense_Mutation_p.N666D|ORC3_ENST00000546266.1_Missense_Mutation_p.N522D	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	665					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AATGGATGCAAATTCTGCAAC	0.308																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(1993-1995)Aat>Gat		origin recognition complex, subunit 3							54	55	55					6																	88375514		2203	4299	6502	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88375514A>G	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1993A>G	6.37:g.88375514A>G	ENSP00000376586:p.Asn665Asp					ORC3_ENST00000546266.1_Missense_Mutation_p.N522D|ORC3_ENST00000257789.4_Missense_Mutation_p.N666D	p.N665D	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			19	2041	+			665					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1993A>G	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	A	2.638	-0.284914	0.05605	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.12039	3.05;3.05;2.72	5.85	2.07	0.26955	.	0.428631	0.27522	N	0.018983	T	0.00936	0.0031	N	0.01209	-0.955	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.47262	-0.9131	10	0.06494	T	0.89	-1.2314	9.5362	0.39224	0.6376:0.0:0.3624:0.0	.	603;665;666	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	D	665;666;522	ENSP00000376586:N665D;ENSP00000257789:N666D;ENSP00000444695:N522D	ENSP00000257789:N666D	N	+	1	0	ORC3	88432233	1.000000	0.71417	0.135000	0.22099	0.997000	0.91878	2.531000	0.45650	0.115000	0.18071	0.533000	0.62120	AAT		0.308	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			28	98	0	0	0	1	0	28	98					G	88375514	A	G	88375514	3	3	112	1	0	0	0	0	1	0	0	0	11305	14	1	4	2070	4	ORC3L	6	88375514	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	42985048	88375514	82739553	98	36707											
AIM1	202	broad.mit.edu	37	chr6	106987378	106987378	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gggatacagaagaagcgtacAttggatccatgcggcctctg	13	9	1	2	rs573858590		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:106987378A>T	ENST00000369066.3	+	7	4082	c.3595A>T	c.(3595-3597)Att>Ttt	p.I1199F	AIM1_ENST00000535438.1_5'Flank	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)		p.I1199V(1)		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)		AGAAGCGTACATTGGATCCAT	0.443																																						ENST00000369066.3																			1	Substitution - Missense(1)	p.I1199V(1)	kidney(1)	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						c.(3595-3597)Att>Ttt		absent in melanoma 1							133	128	130					6																	106987378		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106987378A>T	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.3595A>T	6.37:g.106987378A>T	ENSP00000358062:p.Ile1199Phe						p.I1199F	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	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)	7	4082	+	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)	1199			Beta/gamma crystallin 'Greek key' 4.		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.3595A>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226532	0.79576	.	.	ENSG00000112297	ENST00000369066	T	0.78595	-1.19	5.66	5.66	0.87406	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.204155	0.50627	D	0.000103	D	0.84584	0.5504	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86093	0.1551	10	0.56958	D	0.05	.	15.9029	0.79397	1.0:0.0:0.0:0.0	.	1199	Q9Y4K1	AIM1_HUMAN	F	1199	ENSP00000358062:I1199F	ENSP00000358062:I1199F	I	+	1	0	AIM1	107094071	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	2.755000	0.47540	2.147000	0.66899	0.533000	0.62120	ATT		0.443	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			173	321	0	0	0	1	0	173	321					T	106987378	A	T	106987378	3	4	112	1	0	0	0	0	1	0	0	0	430	217	8	5	3621	5	AIM1	6	106987378	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	18611864	106987378	64127689	99	36708											
VTA1	51534	broad.mit.edu	37	chr6	142539725	142539725	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtatgaagatgtaagcaCtgctgtccagaatctacaaa	9	8	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:142539725C>A	ENST00000367630.4	+	8	927	c.869C>A	c.(868-870)aCt>aAt	p.T290N	VTA1_ENST00000452973.2_Missense_Mutation_p.T205N|VTA1_ENST00000367621.1_Missense_Mutation_p.T232N	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	290	Interaction with VPS4B. {ECO:0000250}.				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)		GATGTAAGCACTGCTGTCCAG	0.438																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(868-870)aCt>aAt		vesicle (multivesicular body) trafficking 1							72	71	71					6																	142539725		2203	4299	6502	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142539725C>A	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.869C>A	6.37:g.142539725C>A	ENSP00000356602:p.Thr290Asn					VTA1_ENST00000452973.2_Missense_Mutation_p.T205N|VTA1_ENST00000367621.1_Missense_Mutation_p.T232N	p.T290N	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	8	927	+	Breast(32;0.155)		290			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.869C>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959933	0.92791	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.56776	0.44;0.44;0.44	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.72849	-0.4168	10	0.59425	D	0.04	-18.7284	20.3311	0.98718	0.0:1.0:0.0:0.0	.	205;290	E7ETQ7;Q9NP79	.;VTA1_HUMAN	N	290;232;205	ENSP00000356602:T290N;ENSP00000356593:T232N;ENSP00000395767:T205N	ENSP00000356593:T232N	T	+	2	0	VTA1	142581418	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.395000	0.79876	2.803000	0.96430	0.650000	0.86243	ACT		0.438	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		150	121	1	0	2.73285e-76	1	3.01092e-76	150	121					A	142539725	C	A	142539725	3	1	112	1	0	0	0	0	1	0	0	0	17287	565	20	3	899	3	VTA1	6	142539725	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	35552347	142539725	28575342	100	36709											
GRM1	2911	broad.mit.edu	37	chr6	146480697	146480697	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgagcgccatgcggcGccttggcgtcgtgggcgagt	16	13	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:146480697G>A	ENST00000282753.1	+	2	1149	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H|GRM1_ENST00000392299.2_Missense_Mutation_p.R305H|GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000355289.4_Missense_Mutation_p.R305H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	305					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)		GCCATGCGGCGCCTTGGCGTC	0.557																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(913-915)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						62	61	61					6																	146480697		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480697G>A	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.914G>A	6.37:g.146480697G>A	ENSP00000282753:p.Arg305His					GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000492807.2_Missense_Mutation_p.R305H|GRM1_ENST00000282753.1_Missense_Mutation_p.R305H|GRM1_ENST00000355289.4_Missense_Mutation_p.R305H	p.R305H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1384	+		Ovarian(120;0.0387)	305					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.914G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490785	0.96339	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.995;0.998	P;D;P;P	0.69824	0.851;0.966;0.908;0.851	D	0.91828	0.5473	10	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	305;305;300;305	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	305	ENSP00000354896:R305H;ENSP00000376119:R305H;ENSP00000424095:R305H;ENSP00000282753:R305H;ENSP00000347437:R305H;ENSP00000425599:R305H	ENSP00000282753:R305H	R	+	2	0	GRM1	146522390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.415000	0.97375	2.495000	0.84180	0.655000	0.94253	CGC		0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		17	255	0	0	0	1	0	17	255					A	146480697	G	A	146480697	3	1	112	1	0	0	0	0	1	0	0	0	6826	1087	38	1	920	1	GRM1	6	146480697	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3940972	146480697	24634370	101	36710											
PDE10A	10846	broad.mit.edu	37	chr6	165846554	165846554	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aattgcagtgacaattggtaAgcaaagaacagactggatac	10	6	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:165846554A>T	ENST00000366882.1	-	8	725	c.571T>A	c.(571-573)Tta>Ata	p.L191I	PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I|PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	191	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)	ACAATTGGTAAGCAAAGAACA	0.443																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(571-573)Tta>Ata		phosphodiesterase 10A	Dipyridamole(DB00975)						113	106	108					6																	165846554		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165846554A>T	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.571T>A	6.37:g.165846554A>T	ENSP00000355847:p.Leu191Ile					PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I|PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I	p.L191I			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	8	725	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	191			GAF 1.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.571T>A		.	.	.	.	.	.	.	.	.	.	A	15.16	2.750654	0.49257	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66995	-0.24;-0.24	5.89	0.478	0.16789	GAF (2);	0.135179	0.51477	D	0.000093	T	0.60573	0.2279	L	0.42245	1.32	0.41174	D	0.986184	D;P	0.76494	0.999;0.551	D;B	0.80764	0.994;0.325	T	0.59873	-0.7372	10	0.40728	T	0.16	.	9.4315	0.38612	0.6971:0.0:0.3029:0.0	.	201;191	Q9ULW9;Q9Y233	.;PDE10_HUMAN	I	191;219;201;191;190	ENSP00000355847:L191I;ENSP00000346435:L191I	ENSP00000341187:L201I	L	-	1	2	PDE10A	165766544	1.000000	0.71417	0.774000	0.31636	0.982000	0.71751	1.261000	0.32980	-0.136000	0.11475	0.477000	0.44152	TTA		0.443	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			73	168	0	0	0	1	0	73	168					T	165846554	A	T	165846554	3	4	112	1	0	0	0	0	1	0	0	0	11672	69	3	5	1832	5	PDE10A	6	165846554	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	19365857	165846554	5268513	102	36711											
RADIL	55698	broad.mit.edu	37	chr7	4876198	4876198	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcggggttcccttcgCgcgactccgctgcagcctcc	14	17	0	0	rs552125019	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:4876198C>T	ENST00000399583.3	-	3	761	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	RADIL_ENST00000536091.1_Missense_Mutation_p.A192T|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	192					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)		GTTCCCTTCGCGCGACTCCGC	0.657													C|||	2	0.000399361	0.0008	0.0	5008	,	,		14062	0.0		0.0	False		,,,				2504	0.001					ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(574-576)Gcg>Acg		Ras association and DIL domains							18	24	22					7																	4876198		1997	4148	6145	SO:0001583	missense	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4876198C>T	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.574G>A	7.37:g.4876198C>T	ENSP00000382492:p.Ala192Thr					RADIL_ENST00000538469.1_5'UTR|RADIL_ENST00000536091.1_Missense_Mutation_p.A192T	p.A192T	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	3	761	-		Ovarian(82;0.0175)	192					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	c.574G>A	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018145	0.54576	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.24538	3.25;1.85	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.75447	2.3	0.43191	D	0.995025	D	0.52996	0.957	B	0.40534	0.332	T	0.20538	-1.0272	10	0.49607	T	0.09	-28.9768	12.2613	0.54652	0.0:0.8293:0.1707:0.0	.	192	Q96JH8	RADIL_HUMAN	T	192;166;192	ENSP00000382492:A192T;ENSP00000442533:A192T	ENSP00000320946:A166T	A	-	1	0	RADIL	4842724	0.997000	0.39634	0.951000	0.38953	0.111000	0.19643	3.783000	0.55409	2.123000	0.65237	0.462000	0.41574	GCG		0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		83	126	0	0	0	1	0	83	126					T	4876198	C	T	4876198	3	4	112	1	0	0	0	0	1	0	0	0	13047	768	27	1	2705	1	RADIL	7	4876198	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		4876198	154262465	103	36712											
NFE2L3	9603	broad.mit.edu	37	chr7	26225083	26225084	+	Frame_Shift_Ins	INS	-	-	AAGTT													cagacgaagagggaaaaataINSaagttgctgcgcagaactgt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:26225083_26225084insAAGTT	ENST00000056233.3	+	4	2024_2025	c.1765_1766insAAGTT	c.(1765-1767)aaafs	p.-590fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3						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						AGGGAAAAATAAAGTTGCTGCG	0.376																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1765-1767)agtfs		nuclear factor, erythroid 2-like 3																																				SO:0001589	frameshift_variant	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225083_26225084insAAGTT	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.1766_1770dupAAGTT	7.37:g.26225084_26225088dupAAGTT	ENSP00000056233:p.Val590fs						p.S589fs	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2024_2025	+			589					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Frame_Shift_Ins	INS	ENST00000056233.3	37	c.1765_1766insAAGTT	CCDS5396.1																																																																																				0.376	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			10	313						10	313	---	---	---	---	AAGTT	26225084	-	AAGTT	26225083	7	5	112	1	0	1	1	0	0	0	0	0	10411	363	13	0	1779	0	NFE2L3	7	26225083	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	21348885	26225083	132913580	104	36713											
TAX1BP1	8887	broad.mit.edu	37	chr7	27868361	27868361	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtgcccgatgtgcagCgagcagttccctcctgacta	12	12	0	1	rs534866304		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:27868361C>T	ENST00000396319.2	+	17	2371	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TAX1BP1_ENST00000409980.1_Silent_p.S785S|TAX1BP1_ENST00000543117.1_Silent_p.S719S|TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000433216.2_Silent_p.S562S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	761					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.S761S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CGATGTGCAGCGAGCAGTTCC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		17086	0.001		0.0	False		,,,				2504	0.0					ENST00000396319.2																			1	Substitution - coding silent(1)	p.S761S(1)	large_intestine(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2281-2283)agC>agT		Tax1 (human T-cell leukemia virus type I) binding protein 1							150	140	143					7																	27868361		2203	4300	6503	SO:0001819	synonymous_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27868361C>T	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2283C>T	7.37:g.27868361C>T						TAX1BP1_ENST00000488564.1_3'UTR|TAX1BP1_ENST00000433216.2_Silent_p.S562S|TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000409980.1_Silent_p.S785S|TAX1BP1_ENST00000543117.1_Silent_p.S719S	p.S761S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		17	2371	+			761					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	c.2283C>T	CCDS5415.1																																																																																				0.418	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		12	629	0	0	0	1	0	12	629					T	27868361	C	T	27868361	2	4	112	1	0	0	0	0	0	0	0	1	15646	767	27	1		1	TAX1BP1	7	27868361	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1643278	27868361	131270302	105	36714											
CHN2	1124	broad.mit.edu	37	chr7	29552295	29552295	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaccaccctgcatgatatgCggtaccaaaagctgattgtg	10	10	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:29552295C>T	ENST00000222792.6	+	13	1881	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.R436W|CHN2_ENST00000421775.2_Missense_Mutation_p.R257W|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000539406.1_Missense_Mutation_p.R526W|CHN2_ENST00000435288.2_Missense_Mutation_p.R175W|CHN2_ENST00000439711.2_Missense_Mutation_p.R269W|CHN2_ENST00000495789.2_Missense_Mutation_p.R464W|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000409041.4_Missense_Mutation_p.R315W|CHN2_ENST00000539389.1_Missense_Mutation_p.R307W|CHN2_ENST00000424025.2_Missense_Mutation_p.R270W	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	451	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCATGATATGCGGTACCAAAA	0.463																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(1351-1353)Cgg>Tgg		chimerin 2							86	86	86					7																	29552295		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552295C>T	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1351C>T	7.37:g.29552295C>T	ENSP00000222792:p.Arg451Trp					CHN2_ENST00000421775.2_Missense_Mutation_p.R257W|CHN2_ENST00000435288.2_Missense_Mutation_p.R175W|CHN2_ENST00000439711.2_Missense_Mutation_p.R269W|CHN2_ENST00000424025.2_Missense_Mutation_p.R270W|CHN2_ENST00000409041.4_Missense_Mutation_p.R315W|CHN2_ENST00000539389.1_Missense_Mutation_p.R307W|CHN2_ENST00000539406.1_Missense_Mutation_p.R526W|CHN2_ENST00000495789.2_Missense_Mutation_p.R464W|CHN2_ENST00000546235.1_Missense_Mutation_p.R436W|CHN2_ENST00000410098.1_3'UTR	p.R451W	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			13	1881	+			451			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1351C>T	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370732	0.61624	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.23348	2.71;2.71;1.91;2.71;2.71;2.71;2.71;2.71;2.71;2.71	5.51	4.57	0.56435	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	M	0.92833	3.35	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;0.999;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;P;D;D;P;D;P;P;D;P;D	0.91635	0.799;0.936;0.995;0.999;0.857;0.943;0.961;0.872;0.917;0.9;0.711;0.991;0.901;0.991	T	0.67428	-0.5673	10	0.72032	D	0.01	.	13.0612	0.59008	0.2774:0.7225:0.0:0.0	.	244;436;464;526;270;224;243;211;269;257;307;451;315;451	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	W	526;451;175;464;307;436;315;270;269;257	ENSP00000444063:R526W;ENSP00000222792:R451W;ENSP00000400282:R175W;ENSP00000438587:R464W;ENSP00000440526:R307W;ENSP00000442812:R436W;ENSP00000386849:R315W;ENSP00000406337:R270W;ENSP00000387425:R269W;ENSP00000394284:R257W	ENSP00000222792:R451W	R	+	1	2	CHN2	29518820	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.281000	0.43452	2.755000	0.94549	0.650000	0.86243	CGG		0.463	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		4	322	0	0	0	1	0	4	322					T	29552295	C	T	29552295	3	4	112	1	0	0	0	0	1	0	0	0	3372	759	27	1	1569	1	CHN2	7	29552295	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1683934	29552295	129586368	106	36715											
STEAP4	79689	broad.mit.edu	37	chr7	87912452	87912452	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatatccatcactctttgcTtggctttgctgtcatttcca	5	12	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:87912452T>A	ENST00000380079.4	-	3	589	c.488A>T	c.(487-489)aAg>aTg	p.K163M	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	163					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)					CACTCTTTGCTTGGCTTTGCT	0.358																																						ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(487-489)aAg>aTg		STEAP family member 4							81	77	78					7																	87912452		1897	4119	6016	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87912452T>A	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.488A>T	7.37:g.87912452T>A	ENSP00000369419:p.Lys163Met					AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron	p.K163M	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			3	589	-	Esophageal squamous(14;0.00802)		163					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.488A>T	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332548	0.60853	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.19394	2.15;2.15	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	H	0.97874	4.095	0.48975	D	0.999738	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74025	-0.3797	10	0.72032	D	0.01	-10.2817	10.7574	0.46245	0.0:0.0705:0.0:0.9295	.	163;163	C9JS50;Q687X5	.;STEA4_HUMAN	M	163	ENSP00000369419:K163M;ENSP00000394399:K163M	ENSP00000369419:K163M	K	-	2	0	STEAP4	87750388	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	6.292000	0.72725	2.289000	0.77006	0.482000	0.46254	AAG		0.358	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		203	180	0	0	0	1	0	203	180					A	87912452	T	A	87912452	3	1	112	1	0	0	0	0	1	0	0	0	15332	1609	56	5	903	5	STEAP4	7	87912452	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	58360157	87912452	71226211	107	36716											
COPS6	10980	broad.mit.edu	37	chr7	99687011	99687011	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaccactggatccgcatgCgctcccaggaggggcggcct	14	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:99687011C>T	ENST00000303904.3	+	2	212	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	COPS6_ENST00000418625.1_Missense_Mutation_p.R58C	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	59	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GATCCGCATGCGCTCCCAGGA	0.597																																						ENST00000303904.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12						c.(175-177)Cgc>Tgc		COP9 signalosome subunit 6							118	117	117					7																	99687011		2203	4300	6503	SO:0001583	missense	10980				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	g.chr7:99687011C>T	BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.175C>T	7.37:g.99687011C>T	ENSP00000304102:p.Arg59Cys					COPS6_ENST00000418625.1_Missense_Mutation_p.R58C	p.R59C	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	212	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		59			MPN.		A4D2A3|O15387	Missense_Mutation	SNP	ENST00000303904.3	37	c.175C>T	CCDS5682.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842569	0.91197	.	.	ENSG00000168090	ENST00000303904;ENST00000419210;ENST00000418625	T;T	0.55930	0.49;0.49	5.41	4.53	0.55603	.	0.062754	0.64402	N	0.000009	T	0.72334	0.3447	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.976	T	0.75246	-0.3385	10	0.72032	D	0.01	-24.1102	6.7007	0.23223	0.1762:0.7362:0.0:0.0876	.	59;59	B4DHR8;Q7L5N1	.;CSN6_HUMAN	C	59;29;58	ENSP00000304102:R59C;ENSP00000400617:R58C	ENSP00000304102:R59C	R	+	1	0	COPS6	99524947	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.114000	0.64648	1.521000	0.48983	0.655000	0.94253	CGC		0.597	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336412.3	NM_006833		7	931	0	0	0	1	0	7	931					T	99687011	C	T	99687011	3	4	112	1	0	0	0	0	1	0	0	0	3746	768	27	1	181	1	COPS6	7	99687011	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11774559	99687011	59451652	108	36717											
GPC2	221914	broad.mit.edu	37	chr7	99771554	99771554	+	Frame_Shift_Del	DEL	C	C	-													gcagggcataagtgaggggaCcccccggcacaggggacagc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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																																						ENST00000292377.2																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18						c.(796-798)tcfs		glypican 2							84	94	90					7																	99771554		2203	4300	6503	SO:0001589	frameshift_variant	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99771554delC	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					GPC2_ENST00000471050.1_5'UTR	p.V266fs	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN			5	963	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		266					A4D2A7	Frame_Shift_Del	DEL	ENST00000292377.2	37	c.796delG	CCDS5689.1																																																																																				0.642	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742		8	1391						8	1391	---	---	---	---	-	99771554	C	-	99771554	7	5	112	1	0	1	0	1	0	0	0	0	6627	507	18	0	967	0	GPC2	7	99771554	Frame_Shift_Del	DEL	C	TCGA-US-A776-01A-13D-A33T-08	84543	99771554	59367109	109	36718											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	399					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)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	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.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			12	520						12	520	---	---	---	---	-	100028825	CCA	-	100028823	7	5	112	1	0	1	0	1	0	0	0	0	9518	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-US-A776-01A-13D-A33T-08	257269	100028823	59109840	110	36719											
ZAN	7455	broad.mit.edu	37	chr7	100361458	100361458	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaccaggtggtgaattcccCgtcttgtgattcatctctgc	10	11	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100361458C>T	ENST00000348028.3	+	0	4181				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGAATTCCCCGTCTTGTGAT	0.562																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							139	135	136					7																	100361458		2005	4182	6187			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100361458C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361458C>T						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	4164	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	16.01	3.001874	0.54254	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.18960	2.22;2.2;2.18	4.33	3.44	0.39384	von Willebrand factor, type D domain (1);	0.194678	0.25654	N	0.029183	T	0.39064	0.1064	M	0.89214	3.015	0.32728	N	0.509395	D;D	0.69078	0.997;0.995	P;P	0.52386	0.697;0.5	T	0.59279	-0.7484	10	0.62326	D	0.03	.	8.4966	0.33132	0.0:0.887:0.0:0.113	.	1339;1339	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1339	ENSP00000445943:P1339L;ENSP00000445091:P1339L;ENSP00000444427:P1339L	ENSP00000423579:P1339L	P	+	2	0	ZAN	100199394	0.018000	0.18449	0.001000	0.08648	0.020000	0.10135	2.304000	0.43655	1.113000	0.41760	0.555000	0.69702	CCG		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		55	778	0	0	0	1	0	55	778					T	100361458	C	T	100361458	1	4	112	0	1	0	0	0	0	0	0	0	17567	652	23	1		1	ZAN	7	100361458	RNA	SNP	C	TCGA-US-A776-01A-13D-A33T-08	332635	100361458	58777205	111	36720											
SERPINE1	5054	broad.mit.edu	37	chr7	100773787	100773787	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gagatcagcaccacagacgcGatcttcgtccagcgggatct	11	13	3	2	rs6091	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100773787G>A	ENST00000223095.4	+	3	514	c.357G>A	c.(355-357)gcG>gcA	p.A119A	SERPINE1_ENST00000445463.2_Silent_p.A104A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	119					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCACAGACGCGATCTTCGTCC	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		18529	0.001		0.001	False		,,,				2504	0.002					ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(355-357)gcG>gcA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	G	,	2,4404	4.2+/-10.8	0,2,2201	196	178	184		357,312	4.6	1	7	dbSNP_52	184	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	SERPINE1	NM_000602.3,NM_001165413.1	,	0,10,6493	AA,AG,GG		0.093,0.0454,0.0769	,	119/403,104/388	100773787	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100773787G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"Serine (or cysteine) peptidase inhibitors"	8583	protein-coding gene	gene with protein product	"plasminogen activator inhibitor, type I"	173360	"serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.357G>A	7.37:g.100773787G>A						SERPINE1_ENST00000445463.2_Silent_p.A104A	p.A119A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			3	514	+	Lung NSC(181;0.136)|all_lung(186;0.182)		119					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.357G>A	CCDS5711.1																																																																																				0.597	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		207	1192	0	0	0	1	0	207	1192					A	100773787	G	A	100773787	2	1	112	1	0	0	0	0	0	0	0	1	14161	1045	37	1		1	SERPINE1	7	100773787	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	412329	100773787	58364876	112	36721											
FAM3C	10447	broad.mit.edu	37	chr7	121011434	121011434	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaaaatgcttctcaggGcaagcttttgagatcccaca	8	10	1	1	rs374629285		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:121011434G>A	ENST00000359943.3	-	5	405	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	64					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					GCTTCTCAGGGCAAGCTTTTG	0.413																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9						c.(190-192)tgC>tgT		family with sequence similarity 3, member C		G	,	0,4406		0,0,2203	96	93	94		192,192	0.5	1	7		94	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	FAM3C	NM_001040020.1,NM_014888.2	,	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	,	64/228,64/228	121011434	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121011434G>A	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"predicted osteoblast protein", "interleukin-like EMT inducer", "interleukin-like epithelial-mesenchymal transition inducer"	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.192C>T	7.37:g.121011434G>A							p.C64C	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN			5	405	-	all_neural(327;0.117)		64					A6NDN2|A8K3R7	Silent	SNP	ENST00000359943.3	37	c.192C>T	CCDS5782.1																																																																																				0.413	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		6	710	0	0	0	1	0	6	710					A	121011434	G	A	121011434	2	1	112	1	0	0	0	0	0	0	0	1	5583	1195	42	2		2	FAM3C	7	121011434	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20237647	121011434	38127229	113	36722											
CPA1	1357	broad.mit.edu	37	chr7	130025029	130025029	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcggagacttaccacgGcaagtttgccaattccgaag	10	12	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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																																						ENST00000011292.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21						c.(829-831)gGc>gAc		carboxypeptidase A1 (pancreatic)							117	103	108					7																	130025029		2203	4300	6503	SO:0001583	missense	1357				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130025029G>A		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					CPA1_ENST00000484324.1_Missense_Mutation_p.G189D	p.G277D	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN			8	980	+	Melanoma(18;0.0435)		277					A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	c.830G>A	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	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		0.562	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868		5	431	0	0	0	1	0	5	431					A	130025029	G	A	130025029	3	1	112	1	0	0	0	0	1	0	0	0	3798	1203	42	2	860	2	CPA1	7	130025029	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	9013595	130025029	29113634	114	36723											
OR2A2	442361	broad.mit.edu	37	chr7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatccagacaaaggagggccGcataaaggccttctccacct	10	13	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(697-699)cGc>cAc		olfactory receptor, family 2, subfamily A, member 2							104	108	107					7																	143807373		2071	4233	6304	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807373G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.698G>A	7.37:g.143807373G>A	ENSP00000386209:p.Arg233His						p.R233H	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	767	+	Melanoma(164;0.0783)		233					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.698G>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880455	0.33255	.	.	ENSG00000221989	ENST00000408979	T	0.00333	8.07	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33327	U	0.005027	T	0.00524	0.0017	M	0.89904	3.07	0.09310	N	1	P	0.35821	0.523	B	0.40940	0.344	T	0.08027	-1.0742	10	0.72032	D	0.01	-4.2634	12.7847	0.57498	0.0:0.0:1.0:0.0	.	233	Q6IF42	OR2A2_HUMAN	H	233	ENSP00000386209:R233H	ENSP00000386209:R233H	R	+	2	0	OR2A2	143438306	0.000000	0.05858	0.365000	0.25901	0.643000	0.38383	0.412000	0.21131	1.938000	0.56188	0.511000	0.50034	CGC		0.522	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			7	780	0	0	0	1	0	7	780					A	143807373	G	A	143807373	3	1	112	1	0	0	0	0	1	0	0	0	11019	1087	38	1	700	1	OR2A2	7	143807373	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	13782344	143807373	15331290	115	36724											
UBE3C	9690	broad.mit.edu	37	chr7	156994419	156994419	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctattcctttttaggcttCtctacagtttagcctttaat	4	10	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:156994419C>A	ENST00000348165.5	+	11	1696	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	446					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)		TTTTAGGCTTCTCTACAGTTT	0.318																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1336-1338)Ctc>Atc		ubiquitin protein ligase E3C							148	132	138					7																	156994419		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156994419C>A	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.1336C>A	7.37:g.156994419C>A	ENSP00000309198:p.Leu446Ile						p.L446I	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	11	1696	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	446					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1336C>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405940	0.62288	.	.	ENSG00000009335	ENST00000348165	T	0.63255	-0.03	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.72894	2.215	0.80722	D	1	P;P	0.52316	0.888;0.952	P;P	0.52758	0.622;0.708	T	0.72214	-0.4358	10	0.48119	T	0.1	-23.106	14.1289	0.65240	0.0:0.9285:0.0:0.0715	.	446;446	Q15386;Q15386-2	UBE3C_HUMAN;.	I	446	ENSP00000309198:L446I	ENSP00000309198:L446I	L	+	1	0	UBE3C	156687180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.328000	0.65887	2.716000	0.92895	0.591000	0.81541	CTC		0.318	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		18	441	1	0	2.37509e-13	1	2.49424e-13	18	441					A	156994419	C	A	156994419	3	1	112	1	0	0	0	0	1	0	0	0	16935	913	32	3	1378	3	UBE3C	7	156994419	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13187046	156994419	2144244	116	36725											
TRPA1	8989	broad.mit.edu	37	chr8	72981266	72981266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtagccttaccttcatcaCctcattattcatgccctgca	4	15	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:72981266C>T	ENST00000262209.4	-	3	643	c.436G>A	c.(436-438)Gtg>Atg	p.V146M		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	146					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)	ACCTTCATCACCTCATTATTC	0.542																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(436-438)Gtg>Atg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						208	219	215					8																	72981266		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72981266C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.436G>A	8.37:g.72981266C>T	ENSP00000262209:p.Val146Met						p.V146M	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	643	-			146					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.436G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555713	0.27827	.	.	ENSG00000104321	ENST00000262209	T	0.67865	-0.29	5.74	0.553	0.17235	Ankyrin repeat-containing domain (4);	0.500993	0.22628	N	0.057618	T	0.43144	0.1234	L	0.27053	0.805	0.09310	N	1	B	0.27380	0.177	B	0.18561	0.022	T	0.27872	-1.0061	10	0.54805	T	0.06	-6.309	1.9276	0.03320	0.1318:0.386:0.1307:0.3514	.	146	O75762	TRPA1_HUMAN	M	146	ENSP00000262209:V146M	ENSP00000262209:V146M	V	-	1	0	TRPA1	73143820	0.922000	0.31269	0.018000	0.16275	0.041000	0.13682	0.564000	0.23563	0.160000	0.19432	0.655000	0.94253	GTG		0.542	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		49	1201	0	0	0	1	0	49	1201					T	72981266	C	T	72981266	3	4	112	1	0	0	0	0	1	0	0	0	16630	507	18	2	3023	2	TRPA1	8	72981266	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		72981266	73382756	117	36726											
RAD54B	25788	broad.mit.edu	37	chr8	95403999	95403999	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctgtagtgctcctggtcgGcaaaagacaacattctctat	8	10	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	549					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			1	Substitution - coding silent(1)	p.C549C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1645-1647)tgC>tgT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							120	126	124					8																	95403999		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403999G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1647C>T	8.37:g.95403999G>A							p.C549C	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1771	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.1647C>T	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		9	1199	0	0	0	1	0	9	1199					A	95403999	G	A	95403999	2	1	112	1	0	0	0	0	0	0	0	1	13042	1195	42	2		2	RAD54B	8	95403999	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	22422733	95403999	50960023	118	36727											
TIGD5	84948	broad.mit.edu	37	chr8	144681830	144681830	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctatggagggacctcagtgcCgactgccggggaggccgtgc	17	12	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:144681830C>T	ENST00000504548.2	+	1	1757	c.1757C>T	c.(1756-1758)cCg>cTg	p.P586L	EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	586						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)			ACCTCAGTGCCGACTGCCGGG	0.706																																						ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1756-1758)cCg>cTg		tigger transposable element derived 5							14	16	15					8																	144681830		2174	4283	6457	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681830C>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1757C>T	8.37:g.144681830C>T	ENSP00000421489:p.Pro586Leu					TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L	p.P586L	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1757	+	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)		586					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1757C>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391218	0.42410	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.51071	0.72;0.76	4.98	4.98	0.66077	.	0.000000	0.45867	U	0.000334	T	0.54240	0.1846	L	0.29908	0.895	0.49130	D	0.999754	D	0.89917	1.0	D	0.87578	0.998	T	0.43637	-0.9379	10	0.08837	T	0.75	.	17.2517	0.87044	0.0:1.0:0.0:0.0	.	537	Q53EQ6	TIGD5_HUMAN	L	586;537	ENSP00000421489:P586L;ENSP00000315906:P537L	ENSP00000315906:P537L	P	+	2	0	TIGD5	144752973	1.000000	0.71417	0.317000	0.25265	0.108000	0.19459	5.792000	0.69052	2.301000	0.77427	0.655000	0.94253	CCG		0.706	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		35	83	0	0	0	1	0	35	83					T	144681830	C	T	144681830	3	4	112	1	0	0	0	0	1	0	0	0	15951	652	23	1	1759	1	TIGD5	8	144681830	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	49277831	144681830	1682192	119	36728											
SLC39A4	55630	broad.mit.edu	37	chr8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-													atgtcatcctcgtacagggaCagcagcagcaggacggtcca							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:145637952_145637954delCAG	ENST00000301305.3	-	12	2017_2019	c.1912_1914delCTG	c.(1912-1914)ctgdel	p.L638del	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000276833.5_In_Frame_Del_p.L613del|GS1-393G12.14_ENST00000607491.1_RNA	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1837-1839)del		solute carrier family 39 (zinc transporter), member 4																																				SO:0001651	inframe_deletion	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145637952_145637954delCAG	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1912_1914delCTG	8.37:g.145637961_145637963delCAG	ENSP00000301305:p.Leu638del					SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR	p.L613del	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		11	2140_2142	-	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)		638					Q7L5S5|Q9H6T8|Q9NXC4	In_Frame_Del	DEL	ENST00000301305.3	37	c.1837_1839delCTG	CCDS6424.1																																																																																				0.601	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			8	1007						8	1007	---	---	---	---	-	145637954	CAG	-	145637952	7	5	112	1	0	1	0	1	0	0	0	0	14670	465	17	0	33	0	SLC39A4	8	145637952	In_Frame_Del	DEL	CAG	TCGA-US-A776-01A-13D-A33T-08	956122	145637952	726070	120	36729											
TAF1L	138474	broad.mit.edu	37	chr9	32635334	32635334	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cccagtcaattcttcatttgCcgtgagttcagtgattaggc	9	10	4	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:32635334C>T	ENST00000242310.4	-	1	333	c.244G>A	c.(244-246)Gca>Aca	p.A82T	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	82					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCATTTGCCGTGAGTTCA	0.517																																						ENST00000242310.4																			0				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						c.(244-246)Gca>Aca		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							164	159	160					9																	32635334		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635334C>T	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.244G>A	9.37:g.32635334C>T	ENSP00000418379:p.Ala82Thr					RP11-555J4.4_ENST00000430787.1_RNA	p.A82T	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	333	-			82					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.244G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807570	0.50421	.	.	ENSG00000122728	ENST00000242310	T	0.08458	3.09	1.04	1.04	0.20106	TAFII-230 TBP-binding (2);	0.117826	0.64402	D	0.000020	T	0.06416	0.0165	L	0.38531	1.155	0.45806	D	0.998682	B	0.27765	0.188	B	0.32928	0.155	T	0.36187	-0.9758	10	0.15499	T	0.54	.	7.4859	0.27432	0.0:1.0:0.0:0.0	.	82	Q8IZX4	TAF1L_HUMAN	T	82	ENSP00000418379:A82T	ENSP00000418379:A82T	A	-	1	0	TAF1L	32625334	1.000000	0.71417	0.753000	0.31225	0.120000	0.20174	4.633000	0.61318	0.507000	0.28148	0.195000	0.17529	GCA		0.517	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			6	778	0	0	0	1	0	6	778					T	32635334	C	T	32635334	3	4	112	1	0	0	0	0	1	0	0	0	15575	739	26	2	5240	2	TAF1L	9	32635334	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		32635334	108578097	121	36730											
UBAP1	51271	broad.mit.edu	37	chr9	34241398	34241398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccatcctcgccagcttgcaGcacaacagcatcctcacacc	5	20	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:34241398G>A	ENST00000297661.4	+	4	610	c.375G>A	c.(373-375)caG>caA	p.Q125Q	UBAP1_ENST00000545103.1_Silent_p.Q189Q|UBAP1_ENST00000536252.1_Silent_p.Q125Q|UBAP1_ENST00000543944.1_Silent_p.Q161Q|UBAP1_ENST00000379186.4_Silent_p.Q125Q|UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000359544.2_Silent_p.Q125Q	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	125					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)			CCAGCTTGCAGCACAACAGCA	0.517																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(373-375)caG>caA		ubiquitin associated protein 1							158	145	149					9																	34241398		2203	4300	6503	SO:0001819	synonymous_variant	51271					cytoplasm		g.chr9:34241398G>A	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.375G>A	9.37:g.34241398G>A						UBAP1_ENST00000297661.4_Silent_p.Q125Q|UBAP1_ENST00000545103.1_Silent_p.Q189Q|UBAP1_ENST00000379186.4_Silent_p.Q125Q|UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000359544.2_Silent_p.Q125Q|UBAP1_ENST00000543944.1_Silent_p.Q161Q	p.Q125Q	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	773	+			125					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	ENST00000297661.4	37	c.375G>A	CCDS6550.1																																																																																				0.517	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			6	382	0	0	0	1	0	6	382					A	34241398	G	A	34241398	2	1	112	1	0	0	0	0	0	0	0	1	16890	962	34	2		2	UBAP1	9	34241398	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1606064	34241398	106972033	122	36731											
FBXO10	26267	broad.mit.edu	37	chr9	37518160	37518160	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgcagcccgctgcCccggttgccaatgatatcgt	11	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:37518160C>T	ENST00000432825.2	-	9	2524	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	826					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCCCGCTGCCCCGGTTGCCA	0.567																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2476-2478)Ggc>Agc		F-box protein 10							79	83	82					9																	37518160		2028	4181	6209	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518160C>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2476G>A	9.37:g.37518160C>T	ENSP00000403802:p.Gly826Ser					RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S	p.G826S	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2524	-			826					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2476G>A	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710231	0.89018	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	D;D	0.81821	-1.54;-1.54	5.37	5.37	0.77165	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.117372	0.56097	D	0.000022	D	0.82903	0.5138	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72075	0.976;0.965;0.965	T	0.79344	-0.1842	10	0.19590	T	0.45	-13.3359	17.9097	0.88930	0.0:1.0:0.0:0.0	.	705;351;826	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	S	826;351	ENSP00000403802:G826S;ENSP00000441307:G351S	ENSP00000403802:G826S	G	-	1	0	FBXO10	37508160	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	3.442000	0.52900	2.505000	0.84491	0.655000	0.94253	GGC		0.567	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			12	280	0	0	0	1	0	12	280					T	37518160	C	T	37518160	3	4	112	1	0	0	0	0	1	0	0	0	5751	623	22	2	406	2	FBXO10	9	37518160	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3276762	37518160	103695271	123	36732											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	10	2	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		8	696	0	0	0	1	0	8	696					T	70871889	C	T	70871889	2	4	112	1	0	0	0	0	0	0	0	1	2721	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	33353729	70871889	70341542	124	36733											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-													cgcccagctaccatcaccatCaccaccaccaccaccaccac							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			10	310						10	310	---	---	---	---	-	102590618	CAC	-	102590616	7	5	112	1	0	1	0	1	0	0	0	0	10676	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-US-A776-01A-13D-A33T-08	31718727	102590616	38622815	125	36734											
SVEP1	79987	broad.mit.edu	37	chr9	113169444	113169444	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgtcatcctggcatgttctCctctcagtgccattcagcac	7	14	4	0	rs367999136		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:113169444C>T	ENST00000401783.2	-	38	8772	c.8436G>A	c.(8434-8436)agG>agA	p.R2812R	SVEP1_ENST00000374469.1_Silent_p.R2789R|SVEP1_ENST00000297826.5_Silent_p.R738R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2812	Sushi 23. {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						GGCATGTTCTCCTCTCAGTGC	0.502																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8434-8436)agG>agA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1		C		0,4120		0,0,2060	146	143	144		8436	1.6	0.4	9		144	1,8393		0,1,4196	no	coding-synonymous	SVEP1	NM_153366.3		0,1,6256	TT,TC,CC		0.0119,0.0,0.0080		2812/3572	113169444	1,12513	2060	4197	6257	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169444C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8436G>A	9.37:g.113169444C>T						SVEP1_ENST00000374469.1_Silent_p.R2789R|SVEP1_ENST00000297826.5_Silent_p.R738R	p.R2812R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	8772	-			2812			Sushi 23.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.8436G>A	CCDS48004.1																																																																																				0.502	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	717	0	0	0	1	0	9	717					T	113169444	C	T	113169444	2	4	112	1	0	0	0	0	0	0	0	1	15472	854	30	2		2	SVEP1	9	113169444	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	10578828	113169444	28043987	126	36735											
SURF4	6836	broad.mit.edu	37	chr9	136230524	136230524	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aatggtccagaaggcgttgaAatatacgttgatggcaaaga	12	5	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:136230524A>T	ENST00000371989.3	-	6	784	c.655T>A	c.(655-657)Ttc>Atc	p.F219I	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	219					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		AAGGCGTTGAAATATACGTTG	0.483																																						ENST00000371989.3																			0				kidney(1)|large_intestine(2)|lung(5)	8						c.(655-657)Ttc>Atc		surfeit 4							104	94	97					9																	136230524		2203	4300	6503	SO:0001583	missense	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136230524A>T		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"surfeit locus protein 4", "surface 4 integral membrane protein"	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.655T>A	9.37:g.136230524A>T	ENSP00000361057:p.Phe219Ile					SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR	p.F219I	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	6	784	-			219					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Missense_Mutation	SNP	ENST00000371989.3	37	c.655T>A	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.979769	0.53827	.	.	ENSG00000148248	ENST00000371989;ENST00000541390	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.41710	1.295	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.008	T	0.47636	-0.9102	9	0.22706	T	0.39	-28.2418	14.2494	0.66009	1.0:0.0:0.0:0.0	.	210;219	B7Z7A8;O15260	.;SURF4_HUMAN	I	219;210	.	ENSP00000361057:F219I	F	-	1	0	SURF4	135220345	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	6.920000	0.75799	1.962000	0.57031	0.383000	0.25322	TTC		0.483	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		116	131	0	0	0	1	0	116	131					T	136230524	A	T	136230524	3	4	112	1	0	0	0	0	1	0	0	0	15457	14	1	5	158	5	SURF4	9	136230524	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	23061080	136230524	4982907	127	36736											
CARD9	64170	broad.mit.edu	37	chr9	139262214	139262214	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcccgcacctgcttgcGcagcgcgtccttctcctgca	9	19	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:139262214G>A	ENST00000371732.5	-	8	1309	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.R382C	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	382					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTGCTTGCGCAGCGCGTCC	0.692																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1144-1146)Cgc>Tgc		caspase recruitment domain family, member 9							37	33	34					9																	139262214		2196	4290	6486	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262214G>A	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1144C>T	9.37:g.139262214G>A	ENSP00000360797:p.Arg382Cys					CARD9_ENST00000371734.3_Missense_Mutation_p.R382C	p.R382C	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1309	-		Myeloproliferative disorder(178;0.0511)	382					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.1144C>T	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428970	0.43122	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.37584	1.19;1.19	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000007	T	0.56848	0.2013	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.60821	-0.7187	10	0.72032	D	0.01	-22.2626	10.565	0.45167	0.0:0.0:0.6812:0.3188	.	278;382;382	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	C	382	ENSP00000360799:R382C;ENSP00000360797:R382C	ENSP00000360797:R382C	R	-	1	0	CARD9	138382035	0.998000	0.40836	0.786000	0.31890	0.082000	0.17680	2.856000	0.48341	2.147000	0.66899	0.655000	0.94253	CGC		0.692	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		55	91	0	0	0	1	0	55	91					A	139262214	G	A	139262214	3	1	112	1	0	0	0	0	1	0	0	0	2659	1087	38	1	543	1	CARD9	9	139262214	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3031690	139262214	1951217	128	36737											
PFKFB3	5209	broad.mit.edu	37	chr10	6264820	6264820	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccggccctctgtgctcagtcCtaccaggacctggtccagcg	11	17	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:6264820C>T	ENST00000379775.4	+	11	1416	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000379782.3_Silent_p.S362S|PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000360521.2_Silent_p.S362S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	362	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)|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						GTGCTCAGTCCTACCAGGACC	0.667																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(1084-1086)tcC>tcT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							50	39	43					10																	6264820		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6264820C>T		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.1086C>T	10.37:g.6264820C>T						PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000379785.1_Silent_p.S362S|PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379782.3_Silent_p.S362S	p.S362S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			11	1416	+			362			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.1086C>T	CCDS7078.1																																																																																				0.667	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			67	77	0	0	0	1	0	67	77					T	6264820	C	T	6264820	2	4	112	1	0	0	0	0	0	0	0	1	11804	668	24	2		2	PFKFB3	10	6264820	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08		6264820	129269927	129	36738											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	9	15	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252	239	243					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val					RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		8	1224	0	0	0	1	0	8	1224					T	43622039	C	T	43622039	3	4	112	1	0	0	0	0	1	0	0	0	13285	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	37357219	43622039	91912708	130	36739											
SYT15	83849	broad.mit.edu	37	chr10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-													cagcagcttgccccgatcaaCagcagcagcagcagcccccc					rs368995487		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:46969401_46969403delCAG	ENST00000374321.4	-	2	124_126	c.58_60delCTG	c.(58-60)ctgdel	p.L21del	SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374325.3_In_Frame_Del_p.L21del|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Intron	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374325.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(58-60)del		synaptotagmin XV																																				SO:0001651	inframe_deletion	83849					integral to membrane|plasma membrane		g.chr10:46969401_46969403delCAG	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.58_60delCTG	10.37:g.46969410_46969412delCAG	ENSP00000363441:p.Leu21del					SYT15_ENST00000503753.1_In_Frame_Del_p.L21del|SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del	p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN			2	210_212	-			21					A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	In_Frame_Del	DEL	ENST00000374321.4	37	c.58_60delCTG	CCDS44376.1																																																																																				0.631	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		7	204						7	204	---	---	---	---	-	46969403	CAG	-	46969401	7	5	112	1	0	1	0	1	0	0	0	0	15523	465	17	0	1287	0	SYT15	10	46969401	In_Frame_Del	DEL	CAG	TCGA-US-A776-01A-13D-A33T-08	3347362	46969401	88565346	131	36740											
STOX1	219736	broad.mit.edu	37	chr10	70644582	70644582	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccacctgaagaatggcccGtccgagatgaagatgacttg	11	11	0	6			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:70644582G>A	ENST00000298596.6	+	3	1113	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	STOX1_ENST00000421961.2_Missense_Mutation_p.V234I|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	344						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						AGAATGGCCCGTCCGAGATGA	0.418																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(1030-1032)Gtc>Atc		storkhead box 1							103	101	102					10																	70644582		1902	4124	6026	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70644582G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.1030G>A	10.37:g.70644582G>A	ENSP00000298596:p.Val344Ile					STOX1_ENST00000421961.2_Missense_Mutation_p.V234I|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I|STOX1_ENST00000399162.2_Intron	p.V344I	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	1113	+			344					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.1030G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121909	0.94429	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.80304	-1.36;-1.36;-1.04	6.08	6.08	0.98989	.	0.000000	0.64402	U	0.000003	D	0.90577	0.7046	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90109	0.4190	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	344	Q6ZVD7	STOX1_HUMAN	I	344;344;234	ENSP00000382121:V344I;ENSP00000298596:V344I;ENSP00000394509:V234I	ENSP00000298596:V344I	V	+	1	0	STOX1	70314588	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.909000	0.87444	2.894000	0.99253	0.591000	0.81541	GTC		0.418	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		5	407	0	0	0	1	0	5	407					A	70644582	G	A	70644582	3	1	112	1	0	0	0	0	1	0	0	0	15371	1145	40	1	1040	1	STOX1	10	70644582	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	23675181	70644582	64890165	132	36741											
SEC24C	9632	broad.mit.edu	37	chr10	75523278	75523278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagatgacaggaacaacCggggtacagagccatttgtt	12	7	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:75523278C>T	ENST00000339365.2	+	8	1180	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SEC24C_ENST00000345254.4_Missense_Mutation_p.R340W|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.R221W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	340					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)					CAGGAACAACCGGGGTACAGA	0.493																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1018-1020)Cgg>Tgg		SEC24 family member C							80	80	80					10																	75523278		2203	4300	6503	SO:0001583	missense	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75523278C>T	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.1018C>T	10.37:g.75523278C>T	ENSP00000343405:p.Arg340Trp					SEC24C_ENST00000411652.2_Missense_Mutation_p.R221W|SEC24C_ENST00000345254.4_Missense_Mutation_p.R340W|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	p.R340W	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN			8	1180	+	Prostate(51;0.0112)		340					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.1018C>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461173	0.84317	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;D	0.82081	-1.21;-1.21;-1.57	5.51	4.58	0.56647	.	0.046171	0.85682	D	0.000000	D	0.86368	0.5916	L	0.60067	1.865	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.57846	0.828;0.736;0.647	D	0.85637	0.1274	10	0.38643	T	0.18	-12.1663	13.3461	0.60573	0.2868:0.7132:0.0:0.0	.	221;340;340	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	W	340;340;221	ENSP00000321845:R340W;ENSP00000343405:R340W;ENSP00000402913:R221W	ENSP00000343405:R340W	R	+	1	2	SEC24C	75193284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.111000	0.41883	1.502000	0.48669	0.561000	0.74099	CGG		0.493	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			4	299	0	0	0	1	0	4	299					T	75523278	C	T	75523278	3	4	112	1	0	0	0	0	1	0	0	0	14046	643	23	1	1040	1	SEC24C	10	75523278	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	4878696	75523278	60011469	133	36742											
PPRC1	23082	broad.mit.edu	37	chr10	103907024	103907024	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggcagggccgccgaggccgCaacagccgttctgtcagctc	14	15	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:103907024C>T	ENST00000278070.2	+	9	4314	c.4275C>T	c.(4273-4275)cgC>cgT	p.R1425R	PPRC1_ENST00000370012.1_Silent_p.R392R|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|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)		GCCGAGGCCGCAACAGCCGTT	0.622																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4273-4275)cgC>cgT		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77	69	72					10																	103907024		2203	4298	6501	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907024C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4275C>T	10.37:g.103907024C>T						PPRC1_ENST00000370012.1_Silent_p.R392R|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	p.R1425R	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4314	+		Colorectal(252;0.122)	1425			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.4275C>T	CCDS7529.1																																																																																				0.622	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		35	389	0	0	0	1	0	35	389					T	103907024	C	T	103907024	2	4	112	1	0	0	0	0	0	0	0	1	12457	697	25	2		2	PPRC1	10	103907024	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	28383746	103907024	31627723	134	36743											
DMBT1	1755	broad.mit.edu	37	chr10	124402694	124402694	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatctcttcgcattgcccGcttccggttcagggccttcc	9	17	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:124402694G>A	ENST00000338354.3	+	53	7128	c.7022G>A	c.(7021-7023)cGc>cAc	p.R2341H	DMBT1_ENST00000368909.3_Missense_Mutation_p.R2341H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2341	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)				CGCATTGCCCGCTTCCGGTTC	0.582																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7021-7023)cGc>cAc		deleted in malignant brain tumors 1							118	128	125					10																	124402694		2080	4208	6288	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402694G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7022G>A	10.37:g.124402694G>A	ENSP00000342210:p.Arg2341His					DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R2341H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H	p.R2341H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			53	7128	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2341			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.7022G>A		.	.	.	.	.	.	.	.	.	.	G	23.5	4.418744	0.83559	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.28	4.37	0.52481	Zona pellucida sperm-binding protein (3);	0.000000	0.39475	U	0.001355	D	0.92678	0.7673	M	0.85945	2.785	0.42305	D	0.992198	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.81914	0.992;0.731;0.984;0.992;0.984;0.992;0.995	D	0.93947	0.7228	10	0.87932	D	0	.	15.2327	0.73404	0.0:0.0:0.8583:0.1417	.	1061;2321;1590;2470;1713;2331;2341	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	2341;2470;2341;2341;2341;2340;1713;2331;1713;1713;2341;2331;1713;487;1061	ENSP00000342210:R2341H;ENSP00000343175:R2331H;ENSP00000327747:R1713H;ENSP00000357905:R2341H;ENSP00000357951:R2331H;ENSP00000357952:R1713H;ENSP00000352593:R1061H	ENSP00000331522:R1713H	R	+	2	0	DMBT1	124392684	1.000000	0.71417	0.924000	0.36721	0.011000	0.07611	5.988000	0.70579	1.216000	0.43427	-0.181000	0.13052	CGC		0.582	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		96	285	0	0	0	1	0	96	285					A	124402694	G	A	124402694	3	1	112	1	0	0	0	0	1	0	0	0	4593	1087	38	1	7232	1	DMBT1	10	124402694	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20495670	124402694	11132053	135	36744											
AP2A2	161	broad.mit.edu	37	chr11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-													aggctcttgatggctatagtAaaaaaaagtacgtctgcaag							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132	134	134					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		7	942						7	942	---	---	---	---	-	970195	A	-	970195	7	5	112	1	0	1	0	1	0	0	0	0	740	363	13	0	173	0	AP2A2	11	970195	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08		970195	134036321	136	36745											
OR52E4	390081	broad.mit.edu	37	chr11	5905894	5905894	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcatggcttatgaccgCtttgttgccatctgcaaccc	10	12	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:5905894C>A	ENST00000316987.2	+	1	394	c.372C>A	c.(370-372)cgC>cgA	p.R124R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTATGACCGCTTTGTTGCCA	0.443																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(370-372)cgC>cgA		olfactory receptor, family 52, subfamily E, member 4							127	112	117					11																	5905894		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905894C>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.372C>A	11.37:g.5905894C>A							p.R124R	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	394	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	124					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.372C>A	CCDS31401.1																																																																																				0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		27	658	1	0	6.32553e-13	1	6.62072e-13	27	658					A	5905894	C	A	5905894	2	1	112	1	0	0	0	0	0	0	0	1	11158	784	28	3		3	OR52E4	11	5905894	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	4935699	5905894	129100622	137	36746											
OR10A2	341276	broad.mit.edu	37	chr11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-													gctgtgccactcagatgtatTtcttcttcttctttggagtg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						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)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	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.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		7	1061						7	1061	---	---	---	---	-	6891255	TTC	-	6891253	7	5	112	1	0	1	0	1	0	0	0	0	10932	1841	64	0	270	0	OR10A2	11	6891253	In_Frame_Del	DEL	TTC	TCGA-US-A776-01A-13D-A33T-08	985359	6891253	128115263	138	36747											
NLRP10	338322	broad.mit.edu	37	chr11	7982120	7982120	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aacctgacacgctttgtagaGaatgtcatttttctgtacaa	7	8	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:7982120G>T	ENST00000328600.2	-	2	1200	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	347	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTTGTAGAGAATGTCATTT	0.512																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1039-1041)Ctc>Atc		NLR family, pyrin domain containing 10							92	83	86					11																	7982120		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982120G>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1039C>A	11.37:g.7982120G>T	ENSP00000327763:p.Leu347Ile						p.L347I	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1200	-			347			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1039C>A	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875656	0.33162	.	.	ENSG00000182261	ENST00000328600	T	0.80480	-1.38	5.11	1.99	0.26369	NACHT nucleoside triphosphatase (1);	0.000000	0.34986	N	0.003539	D	0.87553	0.6206	M	0.90425	3.115	0.18873	N	0.999986	D	0.71674	0.998	D	0.64144	0.922	T	0.77789	-0.2456	10	0.87932	D	0	.	4.2127	0.10519	0.0913:0.1563:0.5919:0.1605	.	347	Q86W26	NAL10_HUMAN	I	347	ENSP00000327763:L347I	ENSP00000327763:L347I	L	-	1	0	NLRP10	7938696	0.995000	0.38212	0.564000	0.28396	0.002000	0.02628	3.441000	0.52893	0.653000	0.30826	-0.176000	0.13171	CTC		0.512	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		62	539	1	0	7.41606e-26	1	7.92055e-26	62	539					T	7982120	G	T	7982120	3	4	112	1	0	0	0	0	1	0	0	0	10514	942	33	3	932	3	NLRP10	11	7982120	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1090867	7982120	127024396	139	36748											
TMEM9B	56674	broad.mit.edu	37	chr11	8969885	8969885	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aattagctgaggacaacatgCcggtcaaagacagactttcg	10	9	1	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:8969885C>T	ENST00000534025.1	-	5	1038	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TMEM9B_ENST00000309134.5_Silent_p.R119R|TMEM9B_ENST00000525069.1_Silent_p.R119R	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	193					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.R193R(1)		breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GGACAACATGCCGGTCAAAGA	0.488																																						ENST00000534025.1																			1	Substitution - coding silent(1)	p.R193R(1)	prostate(1)	breast(1)|lung(1)|prostate(1)	3						c.(577-579)cgG>cgA		TMEM9 domain family, member B							133	125	128					11																	8969885		2201	4296	6497	SO:0001819	synonymous_variant	56674				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	g.chr11:8969885C>T	AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 15"	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.579G>A	11.37:g.8969885C>T						TMEM9B_ENST00000309134.5_Silent_p.R119R|TMEM9B_ENST00000525069.1_Silent_p.R119R	p.R193R	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN		Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)	5	1038	-			193					Q7Z649	Silent	SNP	ENST00000534025.1	37	c.579G>A	CCDS7796.1																																																																																				0.488	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385722.1			6	895	0	0	0	1	0	6	895					T	8969885	C	T	8969885	2	4	112	1	0	0	0	0	0	0	0	1	16279	726	26	2		2	TMEM9B	11	8969885	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	987765	8969885	126036631	140	36749											
TMEM41B	440026	broad.mit.edu	37	chr11	9308017	9308018	+	Frame_Shift_Ins	INS	-	-	A													ttacctagaaaagtaccaatINSaaaaaaaactttcaatggca							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:9308017_9308018insA	ENST00000528080.1	-	6	1028_1029	c.690_691insT	c.(688-693)tttattfs	p.I231fs	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	231					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				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)		AAAGTACCAATAAAAAAAACTT	0.361																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(688-693)ttttggfs		transmembrane protein 41B																																				SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9308017_9308018insA	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.691dupT	11.37:g.9308025_9308025dupA	ENSP00000433126:p.Ile231fs					TMEM41B_ENST00000527813.1_Intron	p.W231fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	6	1028_1029	-			231					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Ins	INS	ENST00000528080.1	37	c.690_691insT	CCDS31424.1																																																																																				0.361	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			8	770						8	770	---	---	---	---	A	9308018	-	A	9308017	7	5	112	1	0	1	1	0	0	0	0	0	16217	1406	49	0	192	0	TMEM41B	11	9308017	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	338132	9308017	125698499	141	36750											
ANO5	203859	broad.mit.edu	37	chr11	22297720	22297720	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatgtccttgctgccaAgatgaccttcatcattgtta	8	11	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:22297720A>C	ENST00000324559.8	+	21	2812	c.2495A>C	c.(2494-2496)aAg>aCg	p.K832T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	832					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						CTTGCTGCCAAGATGACCTTC	0.363																																						ENST00000324559.8																			0				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						c.(2494-2496)aAg>aCg		anoctamin 5							111	93	99					11																	22297720		2202	4299	6501	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22297720A>C	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.2495A>C	11.37:g.22297720A>C	ENSP00000315371:p.Lys832Thr					ANO5_ENST00000532043.1_3'UTR	p.K832T	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			21	2812	+			832						Missense_Mutation	SNP	ENST00000324559.8	37	c.2495A>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905181	0.72868	.	.	ENSG00000171714	ENST00000324559	T	0.63580	-0.05	4.96	1.35	0.21983	.	0.222920	0.52532	D	0.000063	T	0.70193	0.3196	M	0.62088	1.915	0.51767	D	0.999933	P	0.50617	0.937	P	0.61940	0.896	T	0.68352	-0.5431	10	0.87932	D	0	.	8.7096	0.34376	0.7783:0.0:0.2217:0.0	.	832	Q75V66	ANO5_HUMAN	T	832	ENSP00000315371:K832T	ENSP00000315371:K832T	K	+	2	0	ANO5	22254296	1.000000	0.71417	0.984000	0.44739	0.858000	0.48976	6.261000	0.72509	0.042000	0.15717	-0.451000	0.05528	AAG		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		26	319	0	0	0	1	0	26	319					C	22297720	A	C	22297720	3	2	112	1	0	0	0	0	1	0	0	0	700	72	3	4	2577	4	ANO5	11	22297720	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	12989703	22297720	112708796	142	36751											
PRDM11	56981	broad.mit.edu	37	chr11	45246344	45246344	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgggaaacttcctgagccccCcgtattgccaccacaggtac	9	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:45246344C>T	ENST00000530656.1	+	7	1421	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	PRDM11_ENST00000263765.4_Missense_Mutation_p.P474L|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L			Q9NQV5	PRD11_HUMAN	PR domain containing 11	474							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGAGCCCCCCGTATTGCCA	0.522																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1420-1422)cCc>cTc		PR domain containing 11							93	102	99					11																	45246344		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246344C>T	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.1421C>T	11.37:g.45246344C>T	ENSP00000435976:p.Pro474Leu					CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L|PRDM11_ENST00000530656.1_Missense_Mutation_p.P474L	p.P474L			Q9NQV5	PRD11_HUMAN			8	1670	+			474					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1421C>T		.	.	.	.	.	.	.	.	.	.	C	18.08	3.544382	0.65198	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.31769	1.48;1.48;1.52	5.68	5.68	0.88126	.	0.104471	0.43110	D	0.000612	T	0.24275	0.0588	N	0.24115	0.695	0.37913	D	0.931428	B	0.26744	0.158	B	0.24848	0.056	T	0.11641	-1.0579	10	0.87932	D	0	-14.4702	15.2956	0.73906	0.0:0.8606:0.1394:0.0	.	474	Q9NQV5	PRD11_HUMAN	L	474;474;440	ENSP00000263765:P474L;ENSP00000435976:P474L;ENSP00000394314:P440L	ENSP00000263765:P474L	P	+	2	0	PRDM11	45202920	0.957000	0.32711	0.958000	0.39756	0.947000	0.59692	4.313000	0.59160	2.689000	0.91719	0.655000	0.94253	CCC		0.522	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		19	1041	0	0	0	1	0	19	1041					T	45246344	C	T	45246344	3	4	112	1	0	0	0	0	1	0	0	0	12499	623	22	2	1447	2	PRDM11	11	45246344	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	22948624	45246344	89760172	143	36752											
FNBP4	23360	broad.mit.edu	37	chr11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-													ttttgggagctggtggtggtGgaggaggaggaggaggaggt							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cctcca>cca	p.914_915PP>P		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						tggtggtggtggaggaggaggag	0.458																																						ENST00000263773.5																			1	Substitution - coding silent(1)	p.P914P(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(2740-2745)cca>cc		formin binding protein 4				3,75,3660		0,0,3,5,65,1796						-0.3	0.9			14	11,190,7695		0,0,11,2,186,3749	no	codingComplex	FNBP4	NM_015308.2		0,0,14,7,251,5545	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5456,2.0867,2.3981				14,265,11355				SO:0001651	inframe_deletion	23360							g.chr11:47744589_47744591delGGA	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.2742_2744delTCC	11.37:g.47744598_47744600delGGA	ENSP00000263773:p.Pro918del						p.PP916del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			15	2754_2756	-			916			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.2742_2744delTCC	CCDS41644.1																																																																																				0.458	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			7	91						7	91	---	---	---	---	-	47744591	GGA	-	47744589	7	5	112	1	0	1	0	1	0	0	0	0	5992	1348	47	0	321	0	FNBP4	11	47744589	In_Frame_Del	DEL	GGA	TCGA-US-A776-01A-13D-A33T-08	2498245	47744589	87261927	144	36753											
OR8I2	120586	broad.mit.edu	37	chr11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctatgtactttttcctgagCaatttagcatttattgacat	5	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|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)					TTTTCCTGAGCAATTTAGCAT	0.393																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(190-192)agC>agA		olfactory receptor, family 8, subfamily I, member 2							234	224	227					11																	55860975		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55860975C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.192C>A	11.37:g.55860975C>A	ENSP00000303864:p.Ser64Arg					OR8I2_ENST00000560768.1_Missense_Mutation_p.S64R	p.S64R			Q8N0Y5	OR8I2_HUMAN			1	223	+	Esophageal squamous(21;0.00693)		64					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.192C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495481	0.12762	.	.	ENSG00000172154	ENST00000302124	T	0.01099	5.34	4.5	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000185	T	0.02571	0.0078	L	0.49699	1.58	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.38457	-0.9660	10	0.62326	D	0.03	-13.639	11.3591	0.49633	0.0:0.9093:0.0:0.0906	.	64	Q8N0Y5	OR8I2_HUMAN	R	64	ENSP00000303864:S64R	ENSP00000303864:S64R	S	+	3	2	OR8I2	55617551	0.000000	0.05858	0.711000	0.30485	0.023000	0.10783	-3.398000	0.00484	2.225000	0.72522	0.440000	0.28878	AGC		0.393	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		15	556	1	0	2.32078e-09	1	2.38927e-09	15	556					A	55860975	C	A	55860975	3	1	112	1	0	0	0	0	1	0	0	0	11282	709	25	3	194	3	OR8I2	11	55860975	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	8116386	55860975	79145541	145	36754											
LRRC32	2615	broad.mit.edu	37	chr11	76371472	76371472	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctgtaggagcagcgtccGcagagaccccagggctctgg	15	14	1	1	rs573658243	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:76371472G>A	ENST00000407242.2	-	3	1407	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W|LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	389					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						AGCAGCGTCCGCAGAGACCCC	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17671	0.0		0.001	False		,,,				2504	0.0					ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1165-1167)Cgg>Tgg		leucine rich repeat containing 32							18	20	20					11																	76371472		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371472G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1165C>T	11.37:g.76371472G>A	ENSP00000384126:p.Arg389Trp					LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	p.R389W	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1407	-			389					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1165C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	8.836	0.941139	0.18281	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.59083	0.29;0.29;0.29	4.27	1.12	0.20585	.	0.538685	0.19466	N	0.113595	T	0.70649	0.3248	M	0.80847	2.515	0.09310	N	1	D	0.71674	0.998	P	0.57846	0.828	T	0.65853	-0.6067	10	0.56958	D	0.05	.	13.4636	0.61241	0.0:0.0:0.4464:0.5536	.	389	Q14392	LRC32_HUMAN	W	389	ENSP00000260061:R389W;ENSP00000384126:R389W;ENSP00000385766:R389W	ENSP00000260061:R389W	R	-	1	2	LRRC32	76049120	0.000000	0.05858	0.121000	0.21740	0.134000	0.20937	0.103000	0.15292	0.054000	0.16065	-0.500000	0.04577	CGG		0.652	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		20	79	0	0	0	1	0	20	79					A	76371472	G	A	76371472	3	1	112	1	0	0	0	0	1	0	0	0	9025	1086	38	1	827	1	LRRC32	11	76371472	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20510497	76371472	58635044	146	36755											
FOLH1B	219595	broad.mit.edu	37	chr11	89405142	89405142	+	RNA	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagctgttgttcatgaaaCtgtgaggagctttggaacac	12	7	1	2	rs3018757		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							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						GTTCATGAAACTGTGAGGAGC	0.433																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B							208	185	193					11																	89405142		2201	4299	6500			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405142C>T	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.89405142C>T										Q9HBA9	FOH1B_HUMAN			0	1082	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.433	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		5	312	0	0	0	1	0	5	312					T	89405142	C	T	89405142	1	4	112	0	1	0	0	0	0	0	0	0	6005	565	20	2		2	FOLH1B	11	89405142	RNA	SNP	C	TCGA-US-A776-01A-13D-A33T-08	13033670	89405142	45601374	147	36756											
ATM	472	broad.mit.edu	37	chr11	108158373	108158373	+	Nonsense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	accagagattgtggtggagtTattgatgacgttacatgagc	13	5	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:108158373T>G	ENST00000452508.2	+	28	4229	c.4040T>G	c.(4039-4041)tTa>tGa	p.L1347*	ATM_ENST00000278616.4_Nonsense_Mutation_p.L1347*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1347					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)	GTGGTGGAGTTATTGATGACG	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)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"D, Mis, N, F, S"	ataxia telangiectasia mutated			"L, O"		"leukemia, lymphoma, medulloblastoma, glioma"	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(4039-4041)tTa>tGa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							85	84	84					11																	108158373		2201	4298	6499	SO:0001587	stop_gained	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108158373T>G	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.4040T>G	11.37:g.108158373T>G	ENSP00000388058:p.Leu1347*	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Nonsense_Mutation_p.L1347*	p.L1347*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	27	4425	+		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)	1347					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.4040T>G	CCDS31669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	46|46	12.766491|12.766491	0.99694|0.99694	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508|ENST00000531525	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73536	.|0.3599	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72769	.|-0.4193	.|3	0.02654|.	T|.	1|.	.|.	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|D	1347|17	.|.	ENSP00000278616:L1347X|.	L|Y	+|+	2|1	0|0	ATM|ATM	107663583|107663583	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.973000|0.973000	0.67179|0.67179	7.196000|7.196000	0.77805|0.77805	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTA|TAT		0.348	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		182	29	0	0	0	1	0	182	29					G	108158373	T	G	108158373	4	3	112	1	0	0	0	0	0	1	0	0	1110	1764	61	4	4142	4	ATM	11	108158373	Nonsense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	18753231	108158373	26848143	148	36757											
FDXACB1	91893	broad.mit.edu	37	chr11	111746220	111746220	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaatttgactaaactgCtcagcttagagctctccggc	9	11	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111746220C>A	ENST00000260257.4	-	5	1348	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I|ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	434					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						GACTAAACTGCTCAGCTTAGA	0.413																																						ENST00000260257.4																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						c.(1300-1302)aGc>aTc		ferredoxin-fold anticodon binding domain containing 1							116	112	113					11																	111746220		1891	4133	6024	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111746220C>A		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.1301G>T	11.37:g.111746220C>A	ENSP00000260257:p.Ser434Ile					ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I	p.S434I	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN			5	1348	-			434					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.1301G>T	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766748	0.15983	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.73152	0.29;-0.72;0.75	5.86	3.0	0.34707	.	0.412136	0.29486	N	0.012014	T	0.55289	0.1911	L	0.48642	1.525	0.09310	N	1	P	0.39216	0.664	B	0.31191	0.125	T	0.49466	-0.8937	10	0.42905	T	0.14	.	7.2435	0.26109	0.0:0.6412:0.1278:0.231	.	434	Q9BRP7	FDXA1_HUMAN	I	434;285;345	ENSP00000260257:S434I;ENSP00000441304:S285I;ENSP00000435572:S345I	ENSP00000260257:S434I	S	-	2	0	FDXACB1	111251430	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	0.173000	0.16724	0.821000	0.34540	0.655000	0.94253	AGC		0.413	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		106	340	1	0	2.48367e-54	1	2.71732e-54	106	340					A	111746220	C	A	111746220	3	1	112	1	0	0	0	0	1	0	0	0	5831	797	28	3	577	3	FDXACB1	11	111746220	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3587847	111746220	23260296	149	36758											
C11orf52	91894	broad.mit.edu	37	chr11	111796862	111796862	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacgctacagagtatgCgacccttcgcttcccccagg	9	14	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111796862C>T	ENST00000278601.5	+	4	407	c.311C>T	c.(310-312)gCg>gTg	p.A104V	DIXDC1_ENST00000529225.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR|RNA5SP351_ENST00000459480.1_RNA|CRYAB_ENST00000527950.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	104						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		ACAGAGTATGCGACCCTTCGC	0.547																																						ENST00000278601.5																			0				lung(2)|ovary(1)	3						c.(310-312)gCg>gTg		chromosome 11 open reading frame 52							81	70	74					11																	111796862		2201	4297	6498	SO:0001583	missense	91894							g.chr11:111796862C>T	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.311C>T	11.37:g.111796862C>T	ENSP00000278601:p.Ala104Val					C11orf52_ENST00000527286.1_3'UTR|HSPB2-C11orf52_ENST00000534100.1_3'UTR	p.A104V	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	4	407	+		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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)	104						Missense_Mutation	SNP	ENST00000278601.5	37	c.311C>T	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373981	0.82573	.	.	ENSG00000149300	ENST00000278601	T	0.58652	0.32	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000040	T	0.66819	0.2828	L	0.34521	1.04	0.41178	D	0.986213	D	0.89917	1.0	D	0.91635	0.999	T	0.70070	-0.4973	10	0.87932	D	0	-19.5459	15.2968	0.73916	0.0:1.0:0.0:0.0	.	104	Q96A22	CK052_HUMAN	V	104	ENSP00000278601:A104V	ENSP00000278601:A104V	A	+	2	0	C11orf52	111302072	0.992000	0.36948	0.934000	0.37439	0.541000	0.35023	4.038000	0.57318	2.637000	0.89404	0.561000	0.74099	GCG		0.547	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		4	220	0	0	0	1	0	4	220					T	111796862	C	T	111796862	3	4	112	1	0	0	0	0	1	0	0	0	1652	768	27	1	325	1	C11orf52	11	111796862	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	50642	111796862	23209654	150	36759											
TECTA	7007	broad.mit.edu	37	chr11	121031073	121031073	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaccttgcgagggaagcCggtggtaagcagcgtggtgc	18	8	0	1	rs143546623		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:121031073C>T	ENST00000392793.1	+	15	5190	c.4919C>T	c.(4918-4920)cCg>cTg	p.P1640L	TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L			O75443	TECTA_HUMAN	tectorin alpha	1640	VWFD 4. {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)		CGAGGGAAGCCGGTGGTAAGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19598	0.001		0.0	False		,,,				2504	0.0					ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4918-4920)cCg>cTg		tectorin alpha		C	LEU/PRO	0,4406		0,0,2203	149	144	146		4919	4.8	1	11	dbSNP_134	146	1,8597	1.2+/-3.3	0,1,4298	no	missense	TECTA	NM_005422.2	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1640/2156	121031073	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121031073C>T	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.4919C>T	11.37:g.121031073C>T	ENSP00000376543:p.Pro1640Leu					TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L	p.P1640L			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	15	5190	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1640			VWFD 4.			Missense_Mutation	SNP	ENST00000392793.1	37	c.4919C>T	CCDS8434.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.80	2.940023	0.52972	0.0	1.16E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.34275	1.37;1.37	4.77	4.77	0.60923	von Willebrand factor, type D domain (1);	0.067003	0.64402	D	0.000010	T	0.21307	0.0513	N	0.08118	0	0.80722	D	1	D	0.59357	0.985	B	0.43331	0.416	T	0.05835	-1.0861	10	0.09084	T	0.74	.	17.9956	0.89182	0.0:1.0:0.0:0.0	.	1640	O75443	TECTA_HUMAN	L	1640	ENSP00000376543:P1640L;ENSP00000264037:P1640L	ENSP00000264037:P1640L	P	+	2	0	TECTA	120536283	1.000000	0.71417	0.955000	0.39395	0.987000	0.75469	5.902000	0.69869	2.461000	0.83175	0.655000	0.94253	CCG		0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	586	0	0	0	1	0	8	586					T	121031073	C	T	121031073	3	4	112	1	0	0	0	0	1	0	0	0	15799	652	23	1	4973	1	TECTA	11	121031073	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	9234211	121031073	13975443	151	36760											
RAD51AP1	10635	broad.mit.edu	37	chr12	4665646	4665646	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	agtccttcagctgaaagcaaGaaacctaaatgggtcccacc	8	12	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4665646G>C	ENST00000352618.4	+	8	899	c.849G>C	c.(847-849)aaG>aaC	p.K283N	RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K300N|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000321524.7_Intron	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CTGAAAGCAAGAAACCTAAAT	0.393																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(898-900)aaG>aaC		RAD51 associated protein 1							81	79	80					12																	4665646		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4665646G>C	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.849G>C	12.37:g.4665646G>C	ENSP00000309479:p.Lys283Asn					RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.K283N|RAD51AP1_ENST00000544927.1_Intron	p.K300N	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		9	950	+			300						Missense_Mutation	SNP	ENST00000352618.4	37	c.900G>C	CCDS8529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.007313|3.007313	0.54361|0.54361	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618	.|T;T;T	.|0.54071	.|1.02;0.59;0.59	4.51|4.51	3.58|3.58	0.41010|0.41010	.|.	.|0.464142	.|0.23125	.|N	.|0.051651	T|T	0.57475|0.57475	0.2056|0.2056	M|M	0.61703|0.61703	1.905|1.905	0.23425|0.23425	N|N	0.997702|0.997702	.|D;P;P;D	.|0.53462	.|0.96;0.728;0.944;0.959	.|P;B;P;P	.|0.52957	.|0.599;0.334;0.714;0.714	T|T	0.52011|0.52011	-0.8632|-0.8632	5|10	.|0.87932	.|D	.|0	-2.0346|-2.0346	7.5909|7.5909	0.28021|0.28021	0.1221:0.0:0.8779:0.0|0.1221:0.0:0.8779:0.0	.|.	.|165;300;300;283	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	Q|N	252|165;300;283	.|ENSP00000439960:K165N;ENSP00000228843:K300N;ENSP00000309479:K283N	.|ENSP00000228843:K300N	E|K	+|+	1|3	0|2	RAD51AP1|RAD51AP1	4535907|4535907	0.982000|0.982000	0.34865|0.34865	0.412000|0.412000	0.26496|0.26496	0.894000|0.894000	0.52154|0.52154	1.452000|1.452000	0.35156|0.35156	1.054000|1.054000	0.40438|0.40438	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.393	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		131	1413	0	0	0	1	0	131	1413					C	4665646	G	C	4665646	3	2	112	1	0	0	0	0	1	0	0	0	13036	933	33	5	934	5	RAD51AP1	12	4665646	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		4665646	129186249	152	36761											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4719362delA	ENST00000540757.2	+	11	1217	c.1057delA	c.(1057-1059)aaafs	p.K354fs	DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs|RP11-500M8.7_ENST00000536588.1_Intron	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	354	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)			CAACAGGGGGAAAAAAAGATA	0.398																																						ENST00000540757.2																			0				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						c.(1057-1059)aafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							108	105	106					12																	4719362		2203	4300	6503	SO:0001589	frameshift_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4719362delA	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.1057delA	12.37:g.4719362delA	ENSP00000441755:p.Lys354fs					DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs	p.K354fs	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		11	1217	+			354			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Frame_Shift_Del	DEL	ENST00000540757.2	37	c.1057delA	CCDS8530.1																																																																																				0.398	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			9	1821						9	1821	---	---	---	---	-	4719362	A	-	4719362	7	5	112	1	0	1	0	1	0	0	0	0	4874	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08	53716	4719362	129132533	153	36762											
IFFO1	25900	broad.mit.edu	37	chr12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-													cggagtcctcagcctcgcttGgcggcggcggcgggtcgcta					rs144019095		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	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.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		12	1810						12	1810	---	---	---	---	-	6649706	GGC	-	6649704	7	5	112	1	0	1	0	1	0	0	0	0	7540	1348	47	0	58	0	IFFO1	12	6649704	In_Frame_Del	DEL	GGC	TCGA-US-A776-01A-13D-A33T-08	1930342	6649704	127202191	154	36763											
GNB3	2784	broad.mit.edu	37	chr12	6952186	6952186	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagatgcggacgcggcggaCgttaaggggacacctggcca	16	12	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6952186C>T	ENST00000229264.3	+	5	554	c.149C>T	c.(148-150)aCg>aTg	p.T50M	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	50					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCGGCGGACGTTAAGGGGA	0.607																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(148-150)aCg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 3							115	97	103					12																	6952186		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952186C>T		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"WD repeat domain containing"	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.149C>T	12.37:g.6952186C>T	ENSP00000229264:p.Thr50Met					GNB3_ENST00000435982.2_Missense_Mutation_p.T50M	p.T50M	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			5	554	+			50					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.149C>T	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110849	0.94292	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.964;0.981	T	0.80944	-0.1156	10	0.66056	D	0.02	-16.8247	18.8518	0.92235	0.0:1.0:0.0:0.0	.	50;50	E9PCP0;P16520	.;GBB3_HUMAN	M	50	ENSP00000229264:T50M;ENSP00000442002:T50M;ENSP00000414734:T50M;ENSP00000445967:T50M	ENSP00000229264:T50M	T	+	2	0	GNB3	6822447	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	7.818000	0.86416	2.459000	0.83118	0.491000	0.48974	ACG		0.607	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		46	995	0	0	0	1	0	46	995					T	6952186	C	T	6952186	3	4	112	1	0	0	0	0	1	0	0	0	6548	536	19	1	159	1	GNB3	12	6952186	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	302482	6952186	126899709	155	36764											
LRRC23	10233	broad.mit.edu	37	chr12	7016602	7016602	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctaagctgaagaaccTctacctggtagctcactggg	9	12	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7016602T>A	ENST00000007969.8	+	5	834	c.614T>A	c.(613-615)cTc>cAc	p.L205H	LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H|LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	205										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CTGAAGAACCTCTACCTGGTA	0.562																																						ENST00000007969.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(613-615)cTc>cAc		leucine rich repeat containing 23							91	84	86					12																	7016602		2203	4300	6503	SO:0001583	missense	10233							g.chr12:7016602T>A	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.614T>A	12.37:g.7016602T>A	ENSP00000007969:p.Leu205His					LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H|LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H	p.L205H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN			5	834	+			205					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.614T>A	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325445	0.81580	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000436789	T;T;T;T;T	0.62364	0.59;0.03;0.37;0.03;1.11	5.59	5.59	0.84812	.	.	.	.	.	D	0.87398	0.6167	H	0.98542	4.26	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	0.92330	0.5873	9	0.87932	D	0	-12.7044	15.7619	0.78091	0.0:0.0:0.0:1.0	.	205;205;205;205;205	C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;LRC23_HUMAN;.	H	205	ENSP00000402554:L205H;ENSP00000007969:L205H;ENSP00000317464:L205H;ENSP00000390932:L205H;ENSP00000396049:L205H	ENSP00000007969:L205H	L	+	2	0	LRRC23	6886863	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.624000	0.74243	2.120000	0.65058	0.379000	0.24179	CTC		0.562	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		28	1500	0	0	0	1	0	28	1500					A	7016602	T	A	7016602	3	1	112	1	0	0	0	0	1	0	0	0	9016	1551	54	5	628	5	LRRC23	12	7016602	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	64416	7016602	126835293	156	36765											
CLSTN3	9746	broad.mit.edu	37	chr12	7288060	7288060	+	Frame_Shift_Del	DEL	C	C	-													agccattgacggtgactgctCcccccagtacagccagatct							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7288060delC	ENST00000266546.6	+	4	971	c.521delC	c.(520-522)tccfs	p.S174fs	CLSTN3_ENST00000537408.1_Frame_Shift_Del_p.S186fs	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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						GGTGACTGCTCCCCCCAGTAC	0.572																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(556-558)tcfs		calsyntenin 3							207	152	171					12																	7288060		2203	4300	6503	SO:0001589	frameshift_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7288060delC	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.521delC	12.37:g.7288060delC	ENSP00000266546:p.Ser174fs					CLSTN3_ENST00000266546.6_Frame_Shift_Del_p.S174fs	p.S186fs			Q9BQT9	CSTN3_HUMAN			3	1095	+			174			Cadherin 2.		D3DUT6|O94831|Q2T9J5|Q5UE57	Frame_Shift_Del	DEL	ENST00000266546.6	37	c.557delC	CCDS8575.1																																																																																				0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		7	2317						7	2317	---	---	---	---	-	7288060	C	-	7288060	7	5	112	1	0	1	0	1	0	0	0	0	3572	855	30	0	535	0	CLSTN3	12	7288060	Frame_Shift_Del	DEL	C	TCGA-US-A776-01A-13D-A33T-08	271458	7288060	126563835	157	36766											
GYS2	2998	broad.mit.edu	37	chr12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagaatcatctggagaaCggaaccgcctgtcaacgatg	11	10	3	2	rs373682083		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1672-1674)cGt>cAt		glycogen synthase 2 (liver)		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	102	103	103		1673	4.2	1	12		103	0,8600		0,0,4300	no	missense	GYS2	NM_021957.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	558/704	21693480	1,13005	2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21693480C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1673G>A	12.37:g.21693480C>T	ENSP00000261195:p.Arg558His						p.R558H	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			14	1927	-			558					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1673G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938371	0.73557	2.27E-4	0.0	ENSG00000111713	ENST00000261195	T	0.65549	-0.16	5.1	4.21	0.49690	.	0.593520	0.18354	N	0.143787	T	0.68339	0.2990	L	0.35723	1.085	0.47374	D	0.999406	D	0.54601	0.967	P	0.61275	0.886	T	0.70916	-0.4742	10	0.72032	D	0.01	-1.7161	13.8336	0.63395	0.0:0.926:0.0:0.074	.	558	P54840	GYS2_HUMAN	H	558	ENSP00000261195:R558H	ENSP00000261195:R558H	R	-	2	0	GYS2	21584747	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.026000	0.49689	1.369000	0.46134	0.650000	0.86243	CGT		0.418	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		82	463	0	0	0	1	0	82	463					T	21693480	C	T	21693480	3	4	112	1	0	0	0	0	1	0	0	0	6943	536	19	1	450	1	GYS2	12	21693480	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	14405420	21693480	112158415	158	36767											
LIN7A	8825	broad.mit.edu	37	chr12	81205274	81205274	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggttttgttgtgtttgttgCtgctgctgctgttgctgctg	14	6	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:81205274C>T	ENST00000552864.1	-	5	874	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	224	Poly-Gln.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTGTTtgttgctgctgctgct	0.408																																						ENST00000552864.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						c.(670-672)caG>caA		lin-7 homolog A (C. elegans)							83	73	76					12																	81205274		2203	4299	6502	SO:0001819	synonymous_variant	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81205274C>T	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.672G>A	12.37:g.81205274C>T							p.Q224Q	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN			5	874	-			224			Poly-Gln.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	c.672G>A	CCDS9021.1																																																																																				0.408	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			6	58	0	0	0	1	0	6	58					T	81205274	C	T	81205274	2	4	112	1	0	0	0	0	0	0	0	1	8843	796	28	2		2	LIN7A	12	81205274	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	59511794	81205274	52646621	159	36768											
ANO4	121601	broad.mit.edu	37	chr12	101336205	101336205	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttactttcgagatggaaaGtgtcgaattgactacatcct	8	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:101336205G>A	ENST00000392977.3	+	5	558	c.348G>A	c.(346-348)aaG>aaA	p.K116K	ANO4_ENST00000392979.3_Silent_p.K81K|ANO4_ENST00000538618.1_Silent_p.K282K|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	116					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						GAGATGGAAAGTGTCGAATTG	0.388										HNSCC(74;0.22)																												ENST00000392979.3																			0				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						c.(241-243)aaG>aaA		anoctamin 4							139	141	141					12																	101336205		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101336205G>A	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.348G>A	12.37:g.101336205G>A		HNSCC(74;0.22)				ANO4_ENST00000538618.1_Silent_p.K282K|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.K116K	p.K81K	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			4	604	+			116					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.243G>A																																																																																					0.388	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		283	329	0	0	0	1	0	283	329					A	101336205	G	A	101336205	2	1	112	1	0	0	0	0	0	0	0	1	699	1020	36	2		2	ANO4	12	101336205	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	20130931	101336205	32515690	160	36769											
POLR3B	55703	broad.mit.edu	37	chr12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttagcttttAtctcttctttttgaagactt	3	5	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:106820980A>T	ENST00000228347.4	+	13	1329	c.1107A>T	c.(1105-1107)ttA>ttT	p.L369F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	369					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						TTTAGCTTTTATCTCTTCTTT	0.269																																						ENST00000228347.4																			0				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						c.(1105-1107)ttA>ttT		polymerase (RNA) III (DNA directed) polypeptide B							13	14	14					12																	106820980		2198	4295	6493	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820980A>T	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.1107A>T	12.37:g.106820980A>T	ENSP00000228347:p.Leu369Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR	p.L369F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1329	+			369					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1107A>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939401	0.73557	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81499	-0.9;-0.9;-1.5	5.62	1.54	0.23209	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.91354	3.2	0.80722	D	1	P	0.36944	0.574	P	0.52424	0.698	D	0.84399	0.0559	10	0.87932	D	0	-10.3515	3.7246	0.08470	0.4201:0.0:0.3069:0.2729	.	369	Q9NW08	RPC2_HUMAN	F	369;369;311;127;32	ENSP00000228347:L369F;ENSP00000445721:L311F;ENSP00000448398:L127F	ENSP00000228347:L369F	L	+	3	2	POLR3B	105345110	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.461000	0.21940	0.472000	0.27344	0.455000	0.32223	TTA		0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		15	91	0	0	0	1	0	15	91					T	106820980	A	T	106820980	3	4	112	1	0	0	0	0	1	0	0	0	12271	446	16	5	1157	5	POLR3B	12	106820980	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	5484775	106820980	27030915	161	36770											
POP5	51367	broad.mit.edu	37	chr12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-													tctgcagcctcctcacctgaCtcctcctcctcctctaataa					rs188092231|rs369463367		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000357500.4_In_Frame_Del_p.E153del|POP5_ENST00000542776.1_5'UTR	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		8	717						8	717	---	---	---	---	-	121017156	CTC	-	121017154	7	5	112	1	0	1	0	1	0	0	0	0	12295	564	20	0	36	0	POP5	12	121017154	In_Frame_Del	DEL	CTC	TCGA-US-A776-01A-13D-A33T-08	14196174	121017154	12834741	162	36771											
KDM2B	84678	broad.mit.edu	37	chr12	121878657	121878657	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcggggacaggagatcccgcAtctgggcatcctttagtccc	13	13	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121878657A>G	ENST00000377071.4	-	21	3644	c.3572T>C	c.(3571-3573)aTg>aCg	p.M1191T	KDM2B_ENST00000377069.4_Missense_Mutation_p.M1122T|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1191					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGATCCCGCATCTGGGCATC	0.632																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(3364-3366)aTg>aCg		lysine (K)-specific demethylase 2B							37	44	42					12																	121878657		2092	4221	6313	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878657A>G	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3572T>C	12.37:g.121878657A>G	ENSP00000366271:p.Met1191Thr					KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.M1191T|KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T	p.M1122T	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			20	3771	-			1191					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3365T>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587506	0.86851	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.29655	1.56;1.56;1.56	5.92	5.92	0.95590	.	0.093076	0.46758	D	0.000261	T	0.41743	0.1172	L	0.44542	1.39	0.80722	D	1	P;D;D;P	0.59357	0.936;0.985;0.985;0.936	P;P;P;P	0.53518	0.642;0.728;0.535;0.642	T	0.28713	-1.0035	10	0.87932	D	0	-38.4419	16.3648	0.83312	1.0:0.0:0.0:0.0	.	631;1191;1122;634	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	T	1179;559;1122;1191;634;1194	ENSP00000437821:M559T;ENSP00000366269:M1122T;ENSP00000366271:M1191T	ENSP00000261824:M1194T	M	-	2	0	KDM2B	120363040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	ATG		0.632	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		61	256	0	0	0	1	0	61	256					G	121878657	A	G	121878657	3	3	112	1	0	0	0	0	1	0	0	0	8155	217	8	4	502	4	KDM2B	12	121878657	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	861503	121878657	11973238	163	36772											
TMEM120B	144404	broad.mit.edu	37	chr12	122213529	122213529	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggtgttcgtactggcGttcaccttcctcatcctctt	7	16	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:122213529G>A	ENST00000449592.2	+	12	1022	c.921G>A	c.(919-921)gcG>gcA	p.A307A	TMEM120B_ENST00000540377.1_Missense_Mutation_p.V11I	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	307						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCGTACTGGCGTTCACCTTCC	0.607																																						ENST00000540377.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11						c.(31-33)Gtt>Att		transmembrane protein 120B							68	78	75					12																	122213529		2089	4210	6299	SO:0001819	synonymous_variant	144404					integral to membrane		g.chr12:122213529G>A	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.921G>A	12.37:g.122213529G>A						TMEM120B_ENST00000449592.2_Silent_p.A307A	p.V11I			A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	6	427	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.31G>A	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290580	0.40494	.	.	ENSG00000188735	ENST00000540377	.	.	.	5.38	-6.73	0.01749	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41106	-0.9527	5	0.87932	D	0	-23.7117	0.8756	0.01223	0.2122:0.259:0.1413:0.3874	.	.	.	.	I	11	.	ENSP00000446159:V11I	V	+	1	0	TMEM120B	120697912	0.000000	0.05858	0.755000	0.31263	0.977000	0.68977	-5.920000	0.00090	-0.965000	0.03591	0.655000	0.94253	GTT		0.607	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825		116	154	0	0	0	1	0	116	154					A	122213529	G	A	122213529	2	1	112	1	0	0	0	0	0	0	0	1	16086	1132	40	1		1	TMEM120B	12	122213529	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	334872	122213529	11638366	164	36773											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	457						7	457	---	---	---	---	-	20426145	CAT	-	20426143	7	5	112	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-US-A776-01A-13D-A33T-08		20426143	94743735	165	36774											
ATP12A	479	broad.mit.edu	37	chr13	25264838	25264838	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaagaacatctgcttcTattccacaacgtgtctggaa	6	10	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25264838T>A	ENST00000381946.3	+	7	945	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y260N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	260					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CATCTGCTTCTATTCCACAAC	0.547																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(778-780)Tat>Aat		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						164	179	174					13																	25264838		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264838T>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.778T>A	13.37:g.25264838T>A	ENSP00000371372:p.Tyr260Asn					ATP12A_ENST00000381946.3_Missense_Mutation_p.Y260N	p.Y260N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	7	1111	+		Lung SC(185;0.0225)|Breast(139;0.077)	260					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.778T>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861042	0.91433	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90563	-2.69;-2.69	5.19	5.19	0.71726	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.085871	0.50627	D	0.000110	D	0.89670	0.6782	N	0.16266	0.395	0.58432	D	0.999999	D;D	0.62365	0.966;0.991	P;P	0.61533	0.876;0.89	D	0.91248	0.5027	10	0.87932	D	0	.	13.0401	0.58895	0.0:0.0:0.0:1.0	.	260;260	P54707-2;P54707	.;AT12A_HUMAN	N	260	ENSP00000218548:Y260N;ENSP00000371372:Y260N	ENSP00000218548:Y260N	Y	+	1	0	ATP12A	24162838	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.606000	0.82863	2.173000	0.68751	0.533000	0.62120	TAT		0.547	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		55	1095	0	0	0	1	0	55	1095					A	25264838	T	A	25264838	3	1	112	1	0	0	0	0	1	0	0	0	1123	1522	53	5	804	5	ATP12A	13	25264838	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	4838695	25264838	89905040	166	36775											
ATP12A	479	broad.mit.edu	37	chr13	25272866	25272866	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagggggcccctgagcGcatcctagagaaatgcagca	14	10	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25272866G>A	ENST00000381946.3	+	12	1750	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R534H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	528					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R528H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCCCCTGAGCGCATCCTAGAG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.R528H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1600-1602)cGc>cAc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						99	95	97					13																	25272866		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25272866G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1583G>A	13.37:g.25272866G>A	ENSP00000371372:p.Arg528His					ATP12A_ENST00000381946.3_Missense_Mutation_p.R528H	p.R534H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	12	1934	+		Lung SC(185;0.0225)|Breast(139;0.077)	528					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.1601G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572470	0.65765	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.80480	-1.38;-1.38	5.72	4.88	0.63580	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062472	0.64402	D	0.000006	D	0.88190	0.6370	M	0.88450	2.955	0.58432	D	0.999999	D;D	0.71674	0.998;0.988	P;P	0.55055	0.767;0.598	D	0.90082	0.4171	10	0.87932	D	0	.	12.5302	0.56111	0.0806:0.0:0.9194:0.0	.	534;528	P54707-2;P54707	.;AT12A_HUMAN	H	534;528	ENSP00000218548:R534H;ENSP00000371372:R528H	ENSP00000218548:R534H	R	+	2	0	ATP12A	24170866	1.000000	0.71417	0.985000	0.45067	0.124000	0.20399	7.849000	0.86908	1.430000	0.47334	0.655000	0.94253	CGC		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		288	262	0	0	0	1	0	288	262					A	25272866	G	A	25272866	3	1	112	1	0	0	0	0	1	0	0	0	1123	1087	38	1	1647	1	ATP12A	13	25272866	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8028	25272866	89897012	167	36776											
CENPJ	55835	broad.mit.edu	37	chr13	25480968	25480968	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcggaagtgctctggTtagtcactagtttactttct	10	9	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25480968T>C	ENST00000381884.4	-	7	1393	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	403					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)		AGTGCTCTGGTTAGTCACTAG	0.398																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1207-1209)aAc>aGc		centromere protein J							83	80	81					13																	25480968		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480968T>C	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.1208A>G	13.37:g.25480968T>C	ENSP00000371308:p.Asn403Ser					CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	p.N403S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1393	-		Lung SC(185;0.0225)|Breast(139;0.0602)	403					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1208A>G	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.471635	0.01044	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.17054	2.3;2.3	5.09	-1.61	0.08399	.	0.965315	0.08613	N	0.919710	T	0.12475	0.0303	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43048	-0.9415	10	0.12103	T	0.63	.	6.8225	0.23864	0.0:0.1472:0.4148:0.438	.	403	Q9HC77	CENPJ_HUMAN	S	403	ENSP00000371308:N403S;ENSP00000441090:N403S	ENSP00000371308:N403S	N	-	2	0	CENPJ	24378968	0.017000	0.18338	0.001000	0.08648	0.629000	0.37895	0.236000	0.17967	-0.400000	0.07656	0.459000	0.35465	AAC		0.398	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		44	385	0	0	0	1	0	44	385					C	25480968	T	C	25480968	3	2	112	1	0	0	0	0	1	0	0	0	3243	1725	60	4	2852	4	CENPJ	13	25480968	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	208102	25480968	89688910	168	36777											
BRCA2	675	broad.mit.edu	37	chr13	32907421	32907421	+	Frame_Shift_Del	DEL	A	A	-													gatgaaacatcttataaaggAaaaaaaataccgaaagacca					rs80359307|rs80359309		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:32907421delA	ENST00000380152.3	+	10	2039	c.1806delA	c.(1804-1806)ggafs	p.G602fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.G602fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	602					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)		CTTATAAAGGAAAAAAAATAC	0.303			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(1804-1806)ggfs	Homologous recombination	breast cancer 2, early onset				53,4211		9,35,2088	30	32	31	http://www.ncbi.nlm.nih.gov/sites/varvu?gene		1.6	0.2	13	dbSNP_132	31	97,8137		17,63,4037	no	frameshift	BRCA2	NM_000059.3		26,98,6125	A1A1,A1R,RR		1.178,1.243,1.2002			32907421	150,12348	2203	4291	6494	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32907421delA	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.1806delA	13.37:g.32907421delA	ENSP00000369497:p.Gly602fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs	p.G602fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	10	2033	+		Lung SC(185;0.0262)	602					O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.1806delA	CCDS9344.1																																																																																				0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		8	326						8	326	---	---	---	---	-	32907421	A	-	32907421	7	5	112	1	0	1	0	1	0	0	0	0	1503	233	9	0	1840	0	BRCA2	13	32907421	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08	7426453	32907421	82262457	169	36778											
SALL2	6297	broad.mit.edu	37	chr14	21993764	21993764	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacttggcacagacttggGggtgatcctcctcgctagca	12	12	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:21993764G>A	ENST00000327430.3	-	2	392	c.98C>T	c.(97-99)cCc>cTc	p.P33L	SALL2_ENST00000538754.1_Missense_Mutation_p.P31L|SALL2_ENST00000317492.5_Missense_Mutation_p.P33L|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Missense_Mutation_p.P31L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	33					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)		ACAGACTTGGGGGTGATCCTC	0.532																																						ENST00000327430.3																			0				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						c.(97-99)cCc>cTc		spalt-like transcription factor 2							83	70	75					14																	21993764		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21993764G>A	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.98C>T	14.37:g.21993764G>A	ENSP00000333537:p.Pro33Leu					SALL2_ENST00000450879.2_Missense_Mutation_p.P31L|SALL2_ENST00000538754.1_Missense_Mutation_p.P31L|SALL2_ENST00000317492.5_Missense_Mutation_p.P33L	p.P33L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	392	-	all_cancers(95;0.000662)		33					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.98C>T	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.54|17.54	3.416205|3.416205	0.62511|0.62511	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235|ENST00000546363	T;T;T;T;T|T	0.37058|0.04049	3.68;1.24;1.22;3.65;1.34|3.72	4.01|4.01	2.17|2.17	0.27698|0.27698	.|.	0.000000|0.000000	0.38605|0.38605	N|N	0.001629|0.001629	T|T	0.07143|0.07143	0.0181|0.0181	L|L	0.50333|0.50333	1.59|1.59	0.35240|0.35240	D|D	0.777695|0.777695	B;B;B;D;B;D|.	0.89917|.	0.002;0.002;0.0;1.0;0.004;0.982|.	B;B;B;D;B;P|.	0.87578|.	0.001;0.001;0.001;0.998;0.004;0.731|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|8	0.62326|0.33940	D|T	0.03|0.23	-25.3036|-25.3036	5.8958|5.8958	0.18939|0.18939	0.3358:0.0:0.6641:0.0|0.3358:0.0:0.6641:0.0	.|.	31;31;31;33;31;33|.	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467|.	.;.;.;.;.;SALL2_HUMAN|.	L|S	33;33;31;31;33;31|27	ENSP00000333537:P33L;ENSP00000320536:P33L;ENSP00000445916:P31L;ENSP00000396773:P31L;ENSP00000438493:P31L|ENSP00000440054:P27S	ENSP00000320536:P33L|ENSP00000440054:P27S	P|P	-|-	2|1	0|0	SALL2|SALL2	21063604|21063604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	2.258000|2.258000	0.43249|0.43249	0.375000|0.375000	0.24679|0.24679	-0.259000|-0.259000	0.10710|0.10710	CCC|CCC		0.532	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		4	263	0	0	0	1	0	4	263					A	21993764	G	A	21993764	3	1	112	1	0	0	0	0	1	0	0	0	13861	1232	43	2	2929	2	SALL2	14	21993764	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		21993764	85355776	170	36779											
AKAP6	9472	broad.mit.edu	37	chr14	33147660	33147660	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcattcagtgggaagCaatgggtagggaactattct	12	5	3	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:33147660C>G	ENST00000280979.4	+	8	3044	c.2874C>G	c.(2872-2874)agC>agG	p.S958R	AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	958					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)		CAGTGGGAAGCAATGGGTAGG	0.403																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				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						c.(2872-2874)agC>agG		A kinase (PRKA) anchor protein 6							196	186	190					14																	33147660		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33147660C>G	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.2874C>G	14.37:g.33147660C>G	ENSP00000280979:p.Ser958Arg					AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R	p.S958R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	8	3044	+	Breast(36;0.0388)|Prostate(35;0.15)		958					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2874C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139851	0.56936	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.20463	3.39;2.07;2.12	5.3	4.33	0.51752	.	0.185752	0.48767	D	0.000163	T	0.14056	0.0340	N	0.14661	0.345	0.39331	D	0.965421	P;P	0.50710	0.612;0.938	B;P	0.48524	0.261;0.58	T	0.10730	-1.0617	10	0.54805	T	0.06	-4.9967	2.9876	0.05973	0.0:0.5085:0.0:0.4915	.	958;958	A7E242;Q13023	.;AKAP6_HUMAN	R	958	ENSP00000280979:S958R;ENSP00000450531:S958R;ENSP00000451247:S958R	ENSP00000280979:S958R	S	+	3	2	AKAP6	32217411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	1.142000	0.42291	0.585000	0.79938	AGC		0.403	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		27	431	0	0	0	1	0	27	431					G	33147660	C	G	33147660	3	3	112	1	0	0	0	0	1	0	0	0	455	709	25	5	2900	5	AKAP6	14	33147660	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11153896	33147660	74201880	171	36780											
FAM179B	23116	broad.mit.edu	37	chr14	45432083	45432083	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtagtgatgagaagcgGctctgcttgcaacttctctc	13	9	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:45432083G>T	ENST00000361577.3	+	1	673	c.459G>T	c.(457-459)cgG>cgT	p.R153R	KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_Silent_p.R153R|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000361462.2_Silent_p.R153R	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	153										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATGAGAAGCGGCTCTGCTTGC	0.597																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(457-459)cgG>cgT		family with sequence similarity 179, member B							76	85	82					14																	45432083		2202	4300	6502	SO:0001819	synonymous_variant	23116						binding	g.chr14:45432083G>T	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.459G>T	14.37:g.45432083G>T						FAM179B_ENST00000361577.3_Silent_p.R153R|FAM179B_ENST00000382233.2_Silent_p.R153R	p.R153R			Q9Y4F4	F179B_HUMAN			1	642	+			153					Q68D66|Q6PG27	Silent	SNP	ENST00000361577.3	37	c.459G>T	CCDS9681.1																																																																																				0.597	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		6	804	1	0	1	1	1	6	804					T	45432083	G	T	45432083	2	4	112	1	0	0	0	0	0	0	0	1	5527	1190	42	3		3	FAM179B	14	45432083	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	12284423	45432083	61917457	172	36781											
RGS6	9628	broad.mit.edu	37	chr14	72939637	72939637	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatagtcaagaacgagcCttttgggatgtccacaggcc	12	9	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:72939637C>T	ENST00000553530.1	+	9	801	c.594C>T	c.(592-594)gcC>gcT	p.A198A	RGS6_ENST00000554782.1_Silent_p.A59A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000553525.1_Silent_p.A198A	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	198					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)		AAGAACGAGCCTTTTGGGATG	0.368																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(592-594)gcC>gcT		regulator of G-protein signaling 6							143	159	154					14																	72939637		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72939637C>T	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.594C>T	14.37:g.72939637C>T						RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000553525.1_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000554782.1_Silent_p.A59A	p.A198A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	9	801	+			198					C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.594C>T	CCDS9808.1																																																																																				0.368	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			43	887	0	0	0	1	0	43	887					T	72939637	C	T	72939637	2	4	112	1	0	0	0	0	0	0	0	1	13359	668	24	2		2	RGS6	14	72939637	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	27507554	72939637	34409903	173	36782											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	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																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	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					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		9	194						9	194	---	---	---	---	-	74205928	CTG	-	74205926	7	5	112	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-US-A776-01A-13D-A33T-08	1266289	74205926	33143614	174	36783											
MLH3	27030	broad.mit.edu	37	chr14	75513333	75513333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacctgtggcatcttctAccggattcattaacattcca	7	12	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:75513333A>G	ENST00000556740.1	-	1	3061	c.3026T>C	c.(3025-3027)gTa>gCa	p.V1009A	MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.V1009A			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1009					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGCATCTTCTACCGGATTCAT	0.398								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(3025-3027)gTa>gCa	Mismatch excision repair (MMR)	mutL homolog 3							116	117	117					14																	75513333		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75513333A>G	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3026T>C	14.37:g.75513333A>G	ENSP00000452316:p.Val1009Ala					MLH3_ENST00000556740.1_Missense_Mutation_p.V1009A|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A	p.V1009A	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	3241	-			1009					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.3026T>C	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.500|6.500	0.460452|0.460452	0.12342|0.12342	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985|ENST00000553713	T;T;T;T;T|.	0.81247|.	-1.42;-1.42;-1.47;-1.42;0.25|.	5.19|5.19	-5.73|-5.73	0.02398|0.02398	.|.	1.706310|.	0.02897|.	N|.	0.134820|.	T|.	0.34861|.	0.0912|.	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.004|.	B;B|.	0.11329|.	0.006;0.003|.	T|.	0.39941|.	-0.9589|.	10|.	0.27785|.	T|.	0.31|.	2.2606|2.2606	1.3007|1.3007	0.02078|0.02078	0.3215:0.3316:0.1286:0.2183|0.3215:0.3316:0.1286:0.2183	.|.	1009;1009|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	A|Q	1009;1009;1009;1009;4|66	ENSP00000348020:V1009A;ENSP00000238662:V1009A;ENSP00000451540:V1009A;ENSP00000452316:V1009A;ENSP00000441371:V4A|.	ENSP00000238662:V1009A|.	V|X	-|-	2|1	0|0	MLH3|MLH3	74583086|74583086	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.147000|0.147000	0.16202|0.16202	-1.130000|-1.130000	0.02914|0.02914	0.528000|0.528000	0.53228|0.53228	GTA|TAG		0.398	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		117	557	0	0	0	1	0	117	557					G	75513333	A	G	75513333	3	3	112	1	0	0	0	0	1	0	0	0	9659	391	14	4	1383	4	MLH3	14	75513333	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	1307407	75513333	31836207	175	36784											
CHGA	1113	broad.mit.edu	37	chr14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-													ggtggcaggcaaagagagaaGaggaggaggaggaggaggag					rs371215355|rs575196921	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	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		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		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					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		8	187						8	187	---	---	---	---	-	93397926	GAG	-	93397924	7	5	112	1	0	1	0	1	0	0	0	0	3347	943	33	0	707	0	CHGA	14	93397924	In_Frame_Del	DEL	GAG	TCGA-US-A776-01A-13D-A33T-08	17884591	93397924	13951616	176	36785											
ADSSL1	122622	broad.mit.edu	37	chr14	105207231	105207231	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccctggaaatagacAttgaaggccaactcaaaagg	8	12	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105207231A>G	ENST00000330877.2	+	7	725	c.640A>G	c.(640-642)Att>Gtt	p.I214V	ADSSL1_ENST00000332972.5_Missense_Mutation_p.I257V	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GGAAATAGACATTGAAGGCCA	0.582																																						ENST00000332972.5																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(769-771)Att>Gtt		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						188	189	188					14																	105207231		2203	4300	6503	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105207231A>G	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.640A>G	14.37:g.105207231A>G	ENSP00000331260:p.Ile214Val					ADSSL1_ENST00000330877.2_Missense_Mutation_p.I214V	p.I257V	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	7	928	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	214						Missense_Mutation	SNP	ENST00000330877.2	37	c.769A>G	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.055552	0.00390	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.38240	1.15;1.15	4.77	-2.33	0.06724	.	0.405998	0.24891	N	0.034766	T	0.10252	0.0251	N	0.02169	-0.655	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33085	-0.9882	10	0.02654	T	1	-2.6136	10.9376	0.47253	0.8333:0.0:0.1667:0.0	.	257;214	Q8N142-2;Q8N142	.;PURA1_HUMAN	V	214;257	ENSP00000331260:I214V;ENSP00000333019:I257V	ENSP00000331260:I214V	I	+	1	0	ADSSL1	104278276	0.001000	0.12720	0.000000	0.03702	0.166000	0.22503	0.552000	0.23376	-0.770000	0.04614	-0.290000	0.09829	ATT		0.582	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			45	1070	0	0	0	1	0	45	1070					G	105207231	A	G	105207231	3	3	112	1	0	0	0	0	1	0	0	0	348	217	8	4	991	4	ADSSL1	14	105207231	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	11809307	105207231	2142309	177	36786											
PLD4	122618	broad.mit.edu	37	chr14	105396428	105396428	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgccaacatggactggCggtctctgacgcaggtgagt	15	10	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105396428C>T	ENST00000392593.4	+	6	871	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	PLD4_ENST00000553861.1_5'Flank|PLD4_ENST00000540372.1_Missense_Mutation_p.R242W	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	235	PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			CATGGACTGGCGGTCTCTGAC	0.607																																						ENST00000540372.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(724-726)Cgg>Tgg		phospholipase D family, member 4	Choline(DB00122)						63	67	66					14																	105396428		2107	4240	6347	SO:0001583	missense	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105396428C>T		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.703C>T	14.37:g.105396428C>T	ENSP00000376372:p.Arg235Trp					PLD4_ENST00000392593.4_Missense_Mutation_p.R235W	p.R242W			Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		6	916	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	235					Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	c.724C>T	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472839	0.63737	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25250	2.22;2.22;1.81	3.87	1.82	0.25136	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62291	-0.6885	10	0.87932	D	0	-0.0397	5.2432	0.15483	0.4031:0.4845:0.0:0.1124	.	242;235	F5H2B5;Q96BZ4	.;PLD4_HUMAN	W	242;235;233	ENSP00000438677:R242W;ENSP00000376372:R235W;ENSP00000451278:R233W	ENSP00000376372:R235W	R	+	1	2	PLD4	104467473	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	1.036000	0.30228	0.735000	0.32537	0.561000	0.74099	CGG		0.607	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		16	272	0	0	0	1	0	16	272					T	105396428	C	T	105396428	3	4	112	1	0	0	0	0	1	0	0	0	12090	759	27	1	721	1	PLD4	14	105396428	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	189197	105396428	1953112	178	36787											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558527.1_5'UTR|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		8	270						8	270	---	---	---	---	-	40328599	TGC	-	40328597	7	5	112	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-US-A776-01A-13D-A33T-08		40328597	62202795	179	36788											
CKMT1B	1159	broad.mit.edu	37	chr15	43888718	43888718	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtttgaaagattctgccgaGgcctcaaagaggttagagaa	12	6	2	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:43888718G>C	ENST00000441322.1	+	6	1225	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	CKMT1B_ENST00000300283.6_Missense_Mutation_p.G289R|CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R|CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	289	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATTCTGCCGAGGCCTCAAAGA	0.443																																						ENST00000300283.6																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(865-867)Ggc>Cgc		creatine kinase, mitochondrial 1B	Creatine(DB00148)						93	105	101					15																	43888718		2148	4298	6446	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43888718G>C	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"creatine kinase, mitochondrial 1 (ubiquitous)"	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.865G>C	15.37:g.43888718G>C	ENSP00000413255:p.Gly289Arg					CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R|CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R|CKMT1B_ENST00000441322.1_Missense_Mutation_p.G289R	p.G289R	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	7	1257	+		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)	289			Phosphagen kinase C-terminal.		B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.865G>C	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918262	0.73098	.	.	ENSG00000237289	ENST00000300283;ENST00000450086;ENST00000441322;ENST00000413657;ENST00000438947	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.49	4.49	0.54785	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.045722	0.85682	D	0.000000	T	0.51381	0.1671	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;0.999;0.997;1.0	T	0.68746	-0.5327	10	0.87932	D	0	-1.777	17.7765	0.88510	0.0:0.0:1.0:0.0	.	289;248;248;227;320;130;289	F8WCN3;E9PCP8;B4DH34;B4DGR9;P12532-2;B4DJW9;P12532	.;.;.;.;.;.;KCRU_HUMAN	R	289;248;289;152;322	ENSP00000300283:G289R;ENSP00000389267:G248R;ENSP00000413255:G289R;ENSP00000390428:G152R	ENSP00000300283:G289R	G	+	1	0	CKMT1B	41676010	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.642000	0.98461	2.485000	0.83878	0.485000	0.47835	GGC		0.443	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		205	45	0	0	0	1	0	205	45					C	43888718	G	C	43888718	3	2	112	1	0	0	0	0	1	0	0	0	3459	1000	35	5	887	5	CKMT1B	15	43888718	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3560121	43888718	58642674	180	36789											
MYO5A	4644	broad.mit.edu	37	chr15	52667657	52667657	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgcagaaacttagcataGctggccaaagaaaataacat	8	9	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52667657G>A	ENST00000399231.3	-	20	2664	c.2421C>T	c.(2419-2421)tgC>tgT	p.C807C	MYO5A_ENST00000399233.2_Splice_Site_p.C807C|MYO5A_ENST00000358212.6_Splice_Site_p.C807C|MYO5A_ENST00000553916.1_Splice_Site_p.C807C|MYO5A_ENST00000356338.6_Splice_Site_p.C807C	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	807	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTAGCATAGCTGGCCAAAG	0.398																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.e20-1		myosin VA (heavy chain 12, myoxin)							67	63	64					15																	52667657		1885	4115	6000	SO:0001630	splice_region_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52667657G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2421-1C>T	15.37:g.52667657G>A						MYO5A_ENST00000358212.6_Splice_Site_p.C807_splice|MYO5A_ENST00000553916.1_Splice_Site_p.C807_splice|MYO5A_ENST00000356338.6_Splice_Site_p.C807_splice|MYO5A_ENST00000399233.2_Splice_Site_p.C807_splice	p.C807_splice	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	20	2664	-			807			IQ 2.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Splice_Site	SNP	ENST00000399231.3	37	c.2420_splice	CCDS42037.1																																																																																				0.398	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	Silent	5	245	0	0	0	1	0	5	245					A	52667657	G	A	52667657	5	1	112	1	0	0	0	0	0	0	1	0	10119	985	34	2	3234	2	MYO5A	15	52667657	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8778939	52667657	49863735	181	36790											
MYO5A	4644	broad.mit.edu	37	chr15	52676446	52676446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagttcgtgtgaggggtgtgCgccctgaggaggtggctgaa	20	6	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52676446C>T	ENST00000399231.3	-	15	2069	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R609H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R609H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R609H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R609H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	609	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R609H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGGGTGTGCGCCCTGAGGA	0.483																																						ENST00000399231.3																			1	Substitution - Missense(1)	p.R609H(1)	endometrium(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1825-1827)cGc>cAc		myosin VA (heavy chain 12, myoxin)							131	145	141					15																	52676446		2057	4201	6258	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52676446C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1826G>A	15.37:g.52676446C>T	ENSP00000382177:p.Arg609His					MYO5A_ENST00000358212.6_Missense_Mutation_p.R609H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R609H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R609H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R609H	p.R609H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	15	2069	-			609			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1826G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309471	0.81247	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26	5.38	5.38	0.77491	Myosin head, motor domain (2);	0.117044	0.64402	D	0.000014	D	0.85159	0.5633	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.969;0.994	P;P	0.51582	0.652;0.674	D	0.85884	0.1424	10	0.42905	T	0.14	.	19.122	0.93367	0.0:1.0:0.0:0.0	.	609;609	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	609;143;609;609;609;239;609	ENSP00000382177:R609H;ENSP00000382179:R609H;ENSP00000348693:R609H;ENSP00000350945:R609H;ENSP00000451109:R609H	ENSP00000348693:R609H	R	-	2	0	MYO5A	50463738	0.997000	0.39634	0.983000	0.44433	0.443000	0.32047	3.792000	0.55476	2.520000	0.84964	0.650000	0.86243	CGC		0.483	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		6	541	0	0	0	1	0	6	541					T	52676446	C	T	52676446	3	4	112	1	0	0	0	0	1	0	0	0	10119	768	27	1	3849	1	MYO5A	15	52676446	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	8789	52676446	49854946	182	36791											
SLTM	79811	broad.mit.edu	37	chr15	59179218	59179218	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gatgactcctctgtctccctCtctgctcccgtaccccgaag	7	18	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:59179218C>T	ENST00000380516.2	-	19	2878	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	931					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCTCCCTCTCTGCTCCCG	0.572																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2791-2793)Gag>Aag		SAFB-like, transcription modulator							99	85	89					15																	59179218		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179218C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2791G>A	15.37:g.59179218C>T	ENSP00000369887:p.Glu931Lys					SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	p.E931K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			19	2878	-			931					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2791G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621572	0.87460	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.15718	2.4	5.9	5.9	0.94986	.	0.099394	0.43579	D	0.000549	T	0.33440	0.0863	L	0.47716	1.5	0.46701	D	0.999163	D;D	0.67145	0.987;0.996	P;P	0.58928	0.713;0.848	T	0.00544	-1.1679	10	0.62326	D	0.03	.	18.4626	0.90745	0.0:1.0:0.0:0.0	.	931;500	Q9NWH9;A8K5V8	SLTM_HUMAN;.	K	931;497;500	ENSP00000369887:E931K	ENSP00000369887:E931K	E	-	1	0	SLTM	56966510	1.000000	0.71417	0.723000	0.30687	0.606000	0.37113	5.686000	0.68211	2.786000	0.95864	0.563000	0.77884	GAG		0.572	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		22	463	0	0	0	1	0	22	463					T	59179218	C	T	59179218	3	4	112	1	0	0	0	0	1	0	0	0	14804	922	32	2	325	2	SLTM	15	59179218	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	6502772	59179218	43352174	183	36792											
SLC24A1	9187	broad.mit.edu	37	chr15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaagagcaggaggaaGaggaggaggaggaggaggaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	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	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	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.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	194						7	194	---	---	---	---	-	65943130	GAG	-	65943128	7	5	112	1	0	1	0	1	0	0	0	0	14515	943	33	0	769	0	SLC24A1	15	65943128	In_Frame_Del	DEL	GAG	TCGA-US-A776-01A-13D-A33T-08	6763910	65943128	36588264	184	36793											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccgagagcaggaggTgcagagagtgcgggagcagg	20	7	0	2	rs201618622	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351						Golgi apparatus (GO:0005794)		p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562													t|||	142	0.0283546	0.0159	0.0274	5008	,	,		15500	0.0258		0.0249	False		,,,				2504	0.0521					ENST00000421285.3																			4	Substitution - Missense(4)	p.V351A(4)	skin(2)|lung(1)|endometrium(1)	NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1051-1053)gTg>gCg		golgin A6 family, member B							81	81	81					15																	72954797		2063	3889	5952	SO:0001583	missense	55889							g.chr15:72954797T>C		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1052T>C	15.37:g.72954797T>C	ENSP00000408132:p.Val351Ala						p.V351A	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			11	1052	+			351					A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	c.1052T>C	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.612	-0.824760	0.02755	.	.	ENSG00000215186	ENST00000421285	T	0.21031	2.03	0.372	0.372	0.16173	.	.	.	.	.	T	0.07143	0.0181	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.27082	T	0.32	.	4.8248	0.13410	0.0:0.7182:0.0:0.2818	.	351	A6NDN3	GOG6B_HUMAN	A	351	ENSP00000408132:V351A	ENSP00000408132:V351A	V	+	2	0	GOLGA6B	70741851	0.000000	0.05858	0.144000	0.22314	0.053000	0.15095	-2.065000	0.01386	-1.296000	0.02353	-1.896000	0.00531	GTG		0.562	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		9	726	0	0	0	1	0	9	726					C	72954797	T	C	72954797	3	2	112	1	0	0	0	0	1	0	0	0	6587	1696	59	4	1094	4	GOLGA6B	15	72954797	Missense_Mutation	SNP	T	TCGA-US-A776-01A-13D-A33T-08	7011669	72954797	29576595	185	36794											
HCN4	10021	broad.mit.edu	37	chr15	73635767	73635767	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgaatgaggcgggagaggcGtaacaggcgtaagaggctga	18	6	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:73635767G>A	ENST00000261917.3	-	2	2161	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	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	390					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R390C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGAGGCGTAACAGGCGT	0.572																																						ENST00000261917.3																			1	Substitution - Missense(1)	p.R390C(1)	endometrium(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(1168-1170)Cgc>Tgc		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							76	60	65					15																	73635767		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73635767G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1168C>T	15.37:g.73635767G>A	ENSP00000261917:p.Arg390Cys						p.R390C	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	2	2161	-			390					Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1168C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975976	0.53720	.	.	ENSG00000138622	ENST00000261917	D	0.98849	-5.18	5.34	4.41	0.53225	Ion transport (1);	.	.	.	.	D	0.99324	0.9763	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	9	0.87932	D	0	.	13.62	0.62132	0.0:0.0:0.7195:0.2805	.	390	Q9Y3Q4	HCN4_HUMAN	C	390	ENSP00000261917:R390C	ENSP00000261917:R390C	R	-	1	0	HCN4	71422820	1.000000	0.71417	0.973000	0.42090	0.796000	0.44982	4.527000	0.60573	1.355000	0.45865	0.655000	0.94253	CGC		0.572	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		37	189	0	0	0	1	0	37	189					A	73635767	G	A	73635767	3	1	112	1	0	0	0	0	1	0	0	0	7029	1145	40	1	2471	1	HCN4	15	73635767	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	680970	73635767	28895625	186	36795											
CPLX3	594855	broad.mit.edu	37	chr15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-													agatgatcgaggaggacacaGaggaggaggaggagaaggcc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)gagdel	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(340-342)del		complexin 3				22,4242		10,2,2120						-5.3	1			72	52,8202		23,6,4098	no	coding	CPLX3	NM_001030005.2		33,8,6218	A1A1,A1R,RR		0.63,0.5159,0.5911				74,12444				SO:0001651	inframe_deletion	594855					cell junction|synapse	syntaxin binding	g.chr15:75122558_75122560delGAG	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.340_342delGAG	15.37:g.75122567_75122569delGAG	ENSP00000378464:p.Glu118del					RP11-414J4.2_ENST00000564823.1_RNA	p.E118del	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	497_499	+			118					D3DW66|Q8TEM6|Q9H818	In_Frame_Del	DEL	ENST00000395018.4	37	c.340_342delGAG	CCDS32294.1																																																																																				0.616	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		8	467						8	467	---	---	---	---	-	75122560	GAG	-	75122558	7	5	112	1	0	1	0	1	0	0	0	0	3815	943	33	0	350	0	CPLX3	15	75122558	In_Frame_Del	DEL	GAG	TCGA-US-A776-01A-13D-A33T-08	1486791	75122558	27408834	187	36796											
IMP3	55272	broad.mit.edu	37	chr15	75932242	75932242	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcgaaccgcgcgtggGcaccaagccgagagcataca	12	15	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75932242G>C	ENST00000314852.2	-	2	1211	c.268C>G	c.(268-270)Ccc>Gcc	p.P90A	IMP3_ENST00000565349.1_5'Flank|CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Missense_Mutation_p.P90A			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein	450	PA.		V -> I (in dbSNP:rs8034443).		membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			large_intestine(1)	1						CCGCGCGTGGGCACCAAGCCG	0.711																																						ENST00000314852.2																			0				large_intestine(1)	1						c.(268-270)Ccc>Gcc		IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)							13	12	12					15																	75932242		2159	4236	6395	SO:0001583	missense	55272				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding	g.chr15:75932242G>C	AB051628	CCDS10282.1	15q24	2014-02-19	2014-02-19	2005-07-14	ENSG00000177971	ENSG00000177971			14497	protein-coding gene	gene with protein product		612980	"mitochondrial ribosomal protein S4", "chromosome 15 open reading frame 12", "IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)"	MRPS4, C15orf12		11543634, 12655004	Standard	NM_018285		Approved	FLJ10968, BRMS2	uc010bkl.2	Q9NV31	OTTHUMG00000142840	ENST00000314852.2:c.268C>G	15.37:g.75932242G>C	ENSP00000326981:p.Pro90Ala					IMP3_ENST00000403490.1_Missense_Mutation_p.P90A	p.P90A			Q9NV31	IMP3_HUMAN			2	1211	-			90					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000314852.2	37	c.268C>G	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457162	0.63401	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	T;T	0.35789	1.29;1.29	6.17	5.26	0.73747	.	0.119153	0.56097	D	0.000023	T	0.27349	0.0671	L	0.27053	0.805	0.54753	D	0.999984	B	0.19706	0.038	B	0.19391	0.025	T	0.04386	-1.0955	10	0.30078	T	0.28	-16.8425	13.6525	0.62318	0.0:0.1546:0.8454:0.0	.	90	Q9NV31	IMP3_HUMAN	A	90	ENSP00000326981:P90A;ENSP00000385217:P90A	ENSP00000326981:P90A	P	-	1	0	IMP3	73719297	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.252000	0.51461	1.615000	0.50252	0.655000	0.94253	CCC		0.711	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	NM_018285		11	119	0	0	0	1	0	11	119					C	75932242	G	C	75932242	3	2	112	1	0	0	0	0	1	0	0	0	7749	1203	42	5	290	5	IMP3	15	75932242	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	809684	75932242	26599150	188	36797											
TPSD1	23430	broad.mit.edu	37	chr16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaagtggccctggcagGtgagcctgagagtccgcggc	18	11	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	53	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCTGGCAGGTGAGCCTGAG	0.692																																						ENST00000211076.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(157-159)Gtg>Ttg		tryptase delta 1							57	69	65					16																	1306591		2199	4300	6499	SO:0001583	missense	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306591G>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.157G>T	16.37:g.1306591G>T	ENSP00000211076:p.Val53Leu					TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	p.V53L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN			2	305	+		Hepatocellular(780;0.00369)	53			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	c.157G>T	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	15.49	2.850007	0.51270	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.86865	-2.18;-2.18	3.0	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000568	D	0.92577	0.7642	M	0.84326	2.69	0.50813	D	0.999896	D	0.64830	0.994	D	0.71184	0.972	D	0.93238	0.6623	10	0.87932	D	0	.	11.7565	0.51878	0.0:0.0:1.0:0.0	.	53	Q9BZJ3	TRYD_HUMAN	L	46;53	ENSP00000380668:V46L;ENSP00000211076:V53L	ENSP00000211076:V53L	V	+	1	0	TPSD1	1246592	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.053000	0.49901	1.642000	0.50584	0.185000	0.17295	GTG		0.692	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			82	431	1	0	1.07134e-49	1	1.16401e-49	82	431					T	1306591	G	T	1306591	3	4	112	1	0	0	0	0	1	0	0	0	16478	1261	44	3	163	3	TPSD1	16	1306591	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1306591	89048162	189	36798											
C16orf42	84572	broad.mit.edu	37	chr16	1399510	1399510	+	5'Flank	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcagccccccgtccctgCgtctgctcctcttcacagca	7	21	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1399510C>T	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Silent_p.T289T	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CCCGTCCCTGCGTCTGCTCCT	0.622																																						ENST00000007390.2																			0											c.(865-867)acG>acA		TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)							114	134	127					16																	1399510		2199	4300	6499	SO:0001631	upstream_gene_variant	115939							g.chr16:1399510C>T	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1399510C>T	Exception_encountered						p.T289T	NM_001001410.2	NP_001001410.1					6	973	-								B2R556|Q6XYD7|Q96L13	Silent	SNP	ENST00000204679.4	37	c.867G>A	CCDS10436.1																																																																																				0.622	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		48	1150	0	0	0	1	0	48	1150					T	1399510	C	T	1399510	1	4	112	0	1	0	0	0	0	0	0	0	1818	755	27	1		1	C16orf42	16	1399510	5'Flank	SNP	C	TCGA-US-A776-01A-13D-A33T-08	92919	1399510	88955243	190	36799											
ZC3H7A	29066	broad.mit.edu	37	chr16	11855848	11855848	+	Frame_Shift_Del	DEL	C	C	-													tctcagacactgggcgcacaCaaactttatcttcatattaa							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:11855848delC	ENST00000396516.2	-	17	2328	c.2131delG	c.(2131-2133)gtgfs	p.V711fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.V711fs|ZC3H7A_ENST00000575984.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	711						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						TGGGCGCACACAAACTTTATC	0.333																																						ENST00000396516.2																			0				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						c.(2131-2133)tgfs		zinc finger CCCH-type containing 7A							105	93	97					16																	11855848		2196	4300	6496	SO:0001589	frameshift_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11855848delC	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.2131delG	16.37:g.11855848delC	ENSP00000379773:p.Val711fs					ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.V711fs	p.V711fs			Q8IWR0	Z3H7A_HUMAN			17	2328	-			711					D3DUG5|Q9NPE9	Frame_Shift_Del	DEL	ENST00000396516.2	37	c.2131delG	CCDS10550.1																																																																																				0.333	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		15	211						15	211	---	---	---	---	-	11855848	C	-	11855848	7	5	112	1	0	1	0	1	0	0	0	0	17625	478	17	0	808	0	ZC3H7A	16	11855848	Frame_Shift_Del	DEL	C	TCGA-US-A776-01A-13D-A33T-08	10456338	11855848	78498905	191	36800											
LOC81691	81691	broad.mit.edu	37	chr16	20851146	20851146	+	Frame_Shift_Del	DEL	T	T	-													ttcagttctcttttaaggccTtttcacctgtcctcactgag							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:20851146delT	ENST00000261377.6	+	14	1662	c.1453delT	c.(1453-1455)tttfs	p.F485fs	AC004381.6_ENST00000564274.1_Frame_Shift_Del_p.F485fs|AC004381.6_ENST00000348433.6_Frame_Shift_Del_p.F485fs|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTTTAAGGCCTTTTCACCTGT	0.428																																						ENST00000261377.6																			0											c.(1453-1455)ttfs									247	235	239					16																	20851146		2201	4300	6501	SO:0001589	frameshift_variant	0							g.chr16:20851146delT																												ENST00000261377.6:c.1453delT	16.37:g.20851146delT	ENSP00000261377:p.Phe485fs					AC004381.6_ENST00000348433.6_Frame_Shift_Del_p.F485fs|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Frame_Shift_Del_p.F485fs	p.F485fs	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					14	1662	+									Frame_Shift_Del	DEL	ENST00000261377.6	37	c.1453delT	CCDS10591.1																																																																																				0.428	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			7	1004						7	1004	---	---	---	---	-	20851146	T	-	20851146	7	5	112	1	0	1	0	1	0	0	0	0	8928	1609	56	0	1503	0	LOC81691	16	20851146	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	8995298	20851146	69503607	192	36801											
SULT1A2	6799	broad.mit.edu	37	chr16	28603714	28603714	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtccacagtctcctctggCagggagcgccccacaaactc	10	16	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:28603714C>T	ENST00000395630.1	-	7	995	c.645G>A	c.(643-645)ctG>ctA	p.L215L	SULT1A2_ENST00000533150.1_Silent_p.L182L|SULT1A2_ENST00000335715.4_Silent_p.L215L	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																																						ENST00000533150.1																			0				NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						c.(544-546)ctG>ctA		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2							141	126	131					16																	28603714		2197	4300	6497	SO:0001819	synonymous_variant	6799				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28603714C>T	U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"Sulfotransferases, cytosolic"	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.645G>A	16.37:g.28603714C>T						SULT1A2_ENST00000335715.4_Silent_p.L215L|SULT1A2_ENST00000395630.1_Silent_p.L215L	p.L182L			P50226	ST1A2_HUMAN			3	1662	-			215					A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	c.546G>A	CCDS10636.1																																																																																				0.547	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2	NM_001054		7	584	0	0	0	1	0	7	584					T	28603714	C	T	28603714	2	4	112	1	0	0	0	0	0	0	0	1	15425	697	25	2		2	SULT1A2	16	28603714	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	7752568	28603714	61751039	193	36802											
GDPD3	79153	broad.mit.edu	37	chr16	30124708	30124708	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgggagccctgggcGtgtgcagcagatgaggccgg	21	8	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:30124708G>A	ENST00000406256.3	-	1	469	c.92C>T	c.(91-93)aCg>aTg	p.T31M	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	31					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						AGCCCTGGGCGTGTGCAGCAG	0.632																																						ENST00000406256.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						c.(91-93)aCg>aTg		glycerophosphodiester phosphodiesterase domain containing 3							111	130	124					16																	30124708		2127	4244	6371	SO:0001583	missense	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30124708G>A	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.92C>T	16.37:g.30124708G>A	ENSP00000384363:p.Thr31Met						p.T31M	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN			1	469	-			31					Q9H652	Missense_Mutation	SNP	ENST00000406256.3	37	c.92C>T	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914207	0.33815	.	.	ENSG00000102886	ENST00000406256	.	.	.	5.98	3.99	0.46301	.	0.464523	0.15839	U	0.242126	T	0.29524	0.0736	L	0.51422	1.61	0.09310	N	0.999993	P	0.48350	0.909	B	0.39027	0.288	T	0.17899	-1.0354	9	0.46703	T	0.11	-1.1997	8.1862	0.31341	0.081:0.0:0.7643:0.1547	.	31	Q7L5L3	GDPD3_HUMAN	M	31	.	ENSP00000384363:T31M	T	-	2	0	GDPD3	30032209	0.013000	0.17824	0.018000	0.16275	0.045000	0.14185	1.987000	0.40687	1.517000	0.48917	-0.182000	0.12963	ACG		0.632	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		7	1180	0	0	0	1	0	7	1180					A	30124708	G	A	30124708	3	1	112	1	0	0	0	0	1	0	0	0	6354	1145	40	1	904	1	GDPD3	16	30124708	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1520994	30124708	60230045	194	36803											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			14	530						14	530	---	---	---	---	-	57731887	GGA	-	57731885	7	5	112	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-US-A776-01A-13D-A33T-08	27607177	57731885	32622868	195	36804											
CNOT1	23019	broad.mit.edu	37	chr16	58562472	58562472	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tggatacaattaggtgggatCacatcacagaacccataatg	9	8	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:58562472C>T	ENST00000317147.5	-	44	6692	c.6360G>A	c.(6358-6360)gtG>gtA	p.V2120V	CNOT1_ENST00000569240.1_Silent_p.V2115V|CNOT1_ENST00000245138.4_Silent_p.V971V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2120					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)		TAGGTGGGATCACATCACAGA	0.403																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(6358-6360)gtG>gtA		CCR4-NOT transcription complex, subunit 1							107	108	108					16																	58562472		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58562472C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6360G>A	16.37:g.58562472C>T						CNOT1_ENST00000569240.1_Silent_p.V2115V|CNOT1_ENST00000245138.4_Silent_p.V971V	p.V2120V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	44	6692	-			2120					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.6360G>A	CCDS10799.1																																																																																				0.403	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		65	319	0	0	0	1	0	65	319					T	58562472	C	T	58562472	2	4	112	1	0	0	0	0	0	0	0	1	3626	813	29	2		2	CNOT1	16	58562472	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	830587	58562472	31792281	196	36805											
TSNAXIP1	80152	broad.mit.edu	37	chr16	67859904	67859904	+	IGR	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgagcacgctgaaggaaCgggaccaattcttctctgag	11	10	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:67859904C>T	ENST00000562787.1	-	0	2345				TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W|TSNAXIP1_ENST00000388833.3_Missense_Mutation_p.R303W|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R288W	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTGAAGGAACGGGACCAATT	0.612																																						ENST00000388833.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22						c.(907-909)Cgg>Tgg		translin-associated factor X interacting protein 1							65	53	57					16																	67859904		2198	4300	6498	SO:0001628	intergenic_variant	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67859904C>T	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3			16.37:g.67859904C>T						TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.R357W|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.R288W	p.R303W	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	9	1284	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	303					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.907C>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503197	0.44558	.	.	ENSG00000102904	ENST00000415766;ENST00000388833;ENST00000431934	.	.	.	5.8	4.77	0.60923	.	0.094081	0.43110	D	0.000606	T	0.77212	0.4097	M	0.68952	2.095	0.36487	D	0.868176	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;0.985;0.999;0.999;0.985;0.999	T	0.82546	-0.0403	9	0.87932	D	0	-20.0397	15.6556	0.77133	0.1458:0.8542:0.0:0.0	.	288;357;93;11;303;288	E7ENJ7;B4DXD0;B4DY78;Q2TAA8-2;Q2TAA8;B4E1H3	.;.;.;.;TXIP1_HUMAN;.	W	288;303;93	.	ENSP00000373485:R303W	R	+	1	2	TSNAXIP1	66417405	1.000000	0.71417	0.993000	0.49108	0.155000	0.21991	1.111000	0.31159	2.735000	0.93741	0.655000	0.94253	CGG		0.612	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		90	144	0	0	0	1	0	90	144					T	67859904	C	T	67859904	1	4	112	0	1	0	0	0	0	0	0	0	16685	527	19	1		1	TSNAXIP1	16	67859904	IGR	SNP	C	TCGA-US-A776-01A-13D-A33T-08	9297432	67859904	22494849	197	36806											
TRPV3	162514	broad.mit.edu	37	chr17	3432261	3432261	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgcagcagcgtgtgcagcGgctccagggtcagcatctca	13	12	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:3432261G>A	ENST00000576742.1	-	10	1592	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L|TRPV3_ENST00000301365.4_Missense_Mutation_p.P424L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	424					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)			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)	CGTGTGCAGCGGCTCCAGGGT	0.522																																						ENST00000301365.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35						c.(1270-1272)cCg>cTg		transient receptor potential cation channel, subfamily V, member 3	Menthol(DB00825)						160	147	152					17																	3432261		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3432261G>A	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.1271C>T	17.37:g.3432261G>A	ENSP00000461518:p.Pro424Leu					TRPV3_ENST00000576742.1_Missense_Mutation_p.P424L|TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L	p.P424L			Q8NET8	TRPV3_HUMAN			10	1402	-			424					Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.1271C>T	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228444	0.79576	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.91351	-2.83	5.12	5.12	0.69794	.	0.161457	0.43416	D	0.000577	D	0.94358	0.8186	L	0.59912	1.85	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;0.965;0.999;1.0;0.999;0.99;0.983;1.0	D;P;D;D;D;P;B;D	0.91635	0.998;0.83;0.951;0.998;0.964;0.523;0.324;0.999	D	0.94807	0.7975	10	0.87932	D	0	-12.014	17.9362	0.89013	0.0:0.0:1.0:0.0	.	6;408;408;424;408;424;424;424	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	L	424;424;408	ENSP00000301365:P424L	ENSP00000301365:P424L	P	-	2	0	TRPV3	3379011	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	7.536000	0.82023	2.563000	0.86464	0.655000	0.94253	CCG		0.522	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		315	384	0	0	0	1	0	315	384					A	3432261	G	A	3432261	3	1	112	1	0	0	0	0	1	0	0	0	16650	1116	39	1	1137	1	TRPV3	17	3432261	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		3432261	77762949	198	36807											
DHX33	56919	broad.mit.edu	37	chr17	5372038	5372038	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcggctgctgcctccggcCtcctcctcctcctctgccgc	11	21	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:5372038C>A	ENST00000225296.3	-	1	342	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	DHX33_ENST00000433302.3_Missense_Mutation_p.G48C|CTC-524C5.5_ENST00000571506.1_lincRNA	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	48					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						TGCCTCCGGCCTCCTCCTCCT	0.721																																						ENST00000225296.3																			0				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						c.(142-144)Ggc>Tgc		DEAH (Asp-Glu-Ala-His) box polypeptide 33							10	13	12					17																	5372038		2189	4281	6470	SO:0001583	missense	56919					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:5372038C>A	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.142G>T	17.37:g.5372038C>A	ENSP00000225296:p.Gly48Cys					DHX33_ENST00000433302.3_Missense_Mutation_p.G48C	p.G48C	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN			1	342	-			48					B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	ENST00000225296.3	37	c.142G>T	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267200	0.40095	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.24350	1.86;1.86	3.56	3.56	0.40772	.	0.277746	0.26116	N	0.026248	T	0.19167	0.0460	N	0.19112	0.55	0.24160	N	0.995664	D;P	0.58970	0.984;0.832	P;B	0.44623	0.455;0.249	T	0.09796	-1.0658	10	0.52906	T	0.07	.	12.9758	0.58537	0.0:1.0:0.0:0.0	.	48;48	Q05BE5;Q9H6R0	.;DHX33_HUMAN	C	48	ENSP00000225296:G48C;ENSP00000413779:G48C	ENSP00000225296:G48C	G	-	1	0	DHX33	5312762	0.773000	0.28580	1.000000	0.80357	0.963000	0.63663	-0.778000	0.04664	2.277000	0.76020	0.462000	0.41574	GGC		0.721	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		14	180	1	0	3.52763e-06	1	3.58471e-06	14	180					A	5372038	C	A	5372038	3	1	112	1	0	0	0	0	1	0	0	0	4522	681	24	3	2029	3	DHX33	17	5372038	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1939777	5372038	75823172	199	36808											
MYH1	4619	broad.mit.edu	37	chr17	10416957	10416957	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcacatgtttcaatatcaGcagaagccagtttccctgtg	7	11	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:10416957G>A	ENST00000226207.5	-	9	885	c.791C>T	c.(790-792)gCt>gTt	p.A264V	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	264	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						TTCAATATCAGCAGAAGCCAG	0.408																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(790-792)gCt>gTt		myosin, heavy chain 1, skeletal muscle, adult							115	113	114					17																	10416957		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10416957G>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.791C>T	17.37:g.10416957G>A	ENSP00000226207:p.Ala264Val					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.A264V	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			9	885	-			264			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.791C>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155559	0.94686	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.79247	-1.25	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000638	D	0.91222	0.7234	H	0.95224	3.64	0.80722	D	1	D	0.59767	0.986	P	0.61328	0.887	D	0.92981	0.6406	10	0.59425	D	0.04	.	19.6888	0.95989	0.0:0.0:1.0:0.0	.	264	P12882	MYH1_HUMAN	V	264	ENSP00000226207:A264V	ENSP00000226207:A264V	A	-	2	0	MYH1	10357682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.726000	0.74758	2.715000	0.92844	0.655000	0.94253	GCT		0.408	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		10	354	0	0	0	1	0	10	354					A	10416957	G	A	10416957	3	1	112	1	0	0	0	0	1	0	0	0	10070	971	34	2	5156	2	MYH1	17	10416957	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	5044919	10416957	70778253	200	36809											
TRIM16	10626	broad.mit.edu	37	chr17	15534959	15534959	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggaactgttccctggtgctgGgctcaggtttggaagtccaa	14	9	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:15534959G>T	ENST00000578237.1	-	10	1940	c.1085C>A	c.(1084-1086)cCc>cAc	p.P362H	TRIM16_ENST00000336708.7_Missense_Mutation_p.P362H|RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.P362H|TRIM16_ENST00000577886.1_Missense_Mutation_p.P146H|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000416464.2_Missense_Mutation_p.P232H			O95361	TRI16_HUMAN	tripartite motif containing 16	362	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CCTGGTGCTGGGCTCAGGTTT	0.478																																						ENST00000455584.2																			0											c.(1084-1086)cCc>cAc									115	96	102					17																	15534959		2203	4300	6503	SO:0001583	missense	0							g.chr17:15534959G>T	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"Tripartite motif containing / Tripartite motif containing"	17241	protein-coding gene	gene with protein product	"estrogen-responsive B box protein"	609505	"tripartite motif-containing 16"			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1085C>A	17.37:g.15534959G>T	ENSP00000463188:p.Pro362His					TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.P362H|TRIM16_ENST00000416464.2_Missense_Mutation_p.P232H|TRIM16_ENST00000577886.1_Missense_Mutation_p.P146H|TRIM16_ENST00000578237.1_Missense_Mutation_p.P362H	p.P362H							5	1128	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1085C>A	CCDS11171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.83|13.83	2.353404|2.353404	0.41700|0.41700	.|.	.|.	ENSG00000221926|ENSG00000251537	ENST00000336708;ENST00000416464|ENST00000455584	T;T|.	0.72835|.	-0.33;-0.69|.	4.61|4.61	4.61|4.61	0.57282|0.57282	B30.2/SPRY domain (1);|.	0.130100|0.130100	0.52532|0.52532	D|D	0.000067|0.000067	T|T	0.80105|0.80105	0.4562|0.4562	M|M	0.88512|0.88512	2.96|2.96	0.44162|0.44162	D|D	0.996964|0.996964	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	D|D	0.83788|0.83788	0.0229|0.0229	10|7	0.59425|0.54805	D|T	0.04|0.06	.|.	15.3149|15.3149	0.74065|0.74065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232;362;376|.	B3KP96;O95361;Q59EB2|.	.;TRI16_HUMAN;.|.	H|T	362;232|377	ENSP00000338989:P362H;ENSP00000399918:P232H|.	ENSP00000338989:P362H|ENSP00000402644:P377T	P|P	-|-	2|1	0|0	TRIM16|RP11-385D13.1	15475684|15475684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.466000|6.466000	0.73543|0.73543	2.262000|2.262000	0.75019|0.75019	0.555000|0.555000	0.69702|0.69702	CCC|CCA		0.478	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		81	275	1	0	3.77759e-48	1	4.09022e-48	81	275					T	15534959	G	T	15534959	3	4	112	1	0	0	0	0	1	0	0	0	16544	1232	43	3	617	3	TRIM16	17	15534959	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	5118002	15534959	65660251	201	36810											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	11	13	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	535	0	0	0	1	0	6	535					G	16285497	A	G	16285497	2	3	112	1	0	0	0	0	0	0	0	1	16895	69	3	4		4	UBB	17	16285497	Silent	SNP	A	TCGA-US-A776-01A-13D-A33T-08	750538	16285497	64909713	202	36811											
KCNH4	23415	broad.mit.edu	37	chr17	40321553	40321553	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggaagtattcgagcatgCgctgcttgagcggccgcggc	15	11	1	1	rs201523967		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40321553C>T	ENST00000264661.3	-	9	1864	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	511					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)		TTCGAGCATGCGCTGCTTGAG	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20406	0.0		0.0	False		,,,				2504	0.0				NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1531-1533)cGc>cAc		potassium voltage-gated channel, subfamily H (eag-related), member 4		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79	72	74		1532	4.2	1	17		74	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KCNH4	NM_012285.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	511/1018	40321553	2,13004	2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321553C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1532G>A	17.37:g.40321553C>T	ENSP00000264661:p.Arg511His					KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	p.R511H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1864	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	511						Missense_Mutation	SNP	ENST00000264661.3	37	c.1532G>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148528	0.94603	2.27E-4	1.16E-4	ENSG00000089558	ENST00000264661	D	0.97430	-4.38	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.38720	N	0.001587	D	0.98855	0.9613	H	0.94264	3.515	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99683	1.0999	10	0.87932	D	0	.	16.6694	0.85261	0.0:1.0:0.0:0.0	.	511	Q9UQ05	KCNH4_HUMAN	H	511	ENSP00000264661:R511H	ENSP00000264661:R511H	R	-	2	0	KCNH4	37575079	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.148000	0.66965	0.462000	0.41574	CGC		0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		139	201	0	0	0	1	0	139	201					T	40321553	C	T	40321553	3	4	112	1	0	0	0	0	1	0	0	0	8064	768	27	1	1553	1	KCNH4	17	40321553	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	24036056	40321553	40873657	203	36812											
BECN1	8678	broad.mit.edu	37	chr17	40970815	40970815	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gccgacttgccttcagtcttCggctgaggttctccatggtg	12	12	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40970815C>T	ENST00000361523.4	-	5	473	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	114					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CTTCAGTCTTCGGCTGAGGTT	0.607																																						ENST00000361523.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13						c.(340-342)cGa>cAa		beclin 1, autophagy related							85	73	77					17																	40970815		2203	4300	6503	SO:0001583	missense	8678				anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding	g.chr17:40970815C>T	AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.341G>A	17.37:g.40970815C>T	ENSP00000355231:p.Arg114Gln					BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q|BECN1_ENST00000438274.3_Intron	p.R114Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0745)	5	473	-		Breast(137;0.00104)	114					B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	ENST00000361523.4	37	c.341G>A	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365432	0.41902	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.28895	1.59	5.3	4.34	0.51931	.	0.123692	0.53938	D	0.000053	T	0.24198	0.0586	L	0.41236	1.265	0.80722	D	1	B	0.22211	0.066	B	0.09377	0.004	T	0.04427	-1.0952	10	0.17832	T	0.49	.	14.0369	0.64651	0.0:0.9277:0.0:0.0723	.	114	Q14457	BECN1_HUMAN	Q	114;27	ENSP00000355231:R114Q	ENSP00000355231:R114Q	R	-	2	0	BECN1	38224341	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.577000	0.82486	1.471000	0.48121	-0.136000	0.14681	CGA		0.607	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	NM_003766		30	278	0	0	0	1	0	30	278					T	40970815	C	T	40970815	3	4	112	1	0	0	0	0	1	0	0	0	1397	884	31	1	1043	1	BECN1	17	40970815	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	649262	40970815	40224395	204	36813											
MPP2	4355	broad.mit.edu	37	chr17	41955246	41955246	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catggctgtctggagctcgcGgaaggtcctctccaggttgc	14	12	2	0	rs376269624		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:41955246G>A	ENST00000461854.1	-	14	1745	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	MPP2_ENST00000269095.4_Missense_Mutation_p.R530C|MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	554	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.			R -> C (in Ref. 3; BAG61302). {ECO:0000305}.	nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGAGCTCGCGGAAGGTCCTC	0.607																																						ENST00000269095.4																			0				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						c.(1588-1590)Cgc>Tgc		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)		G	CYS/ARG	0,4406		0,0,2203	97	85	89		1588	2.2	0.3	17		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPP2	NM_005374.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	530/553	41955246	1,13005	2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41955246G>A		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.1660C>T	17.37:g.41955246G>A	ENSP00000428286:p.Arg554Cys					MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C|MPP2_ENST00000461854.1_Missense_Mutation_p.R554C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C	p.R530C	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	13	1892	-		Breast(137;0.00314)	554			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1588C>T		.	.	.	.	.	.	.	.	.	.	g	18.17	3.564385	0.65651	0.0	1.16E-4	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.35	2.2	0.27929	.	.	.	.	.	T	0.54647	0.1871	M	0.62723	1.935	0.54753	D	0.999988	D;D	0.76494	0.999;0.998	D;P	0.65140	0.932;0.888	T	0.52147	-0.8614	9	0.66056	D	0.02	.	8.7608	0.34674	0.0797:0.2865:0.6338:0.0	.	575;547	E7EV80;Q14168-3	.;.	C	547;530;554;391;519;519;575	ENSP00000366389:R547C;ENSP00000269095:R530C;ENSP00000428286:R554C;ENSP00000428136:R391C;ENSP00000430540:R519C;ENSP00000438012:R519C;ENSP00000428182:R575C	ENSP00000269095:R530C	R	-	1	0	MPP2	39310772	0.988000	0.35896	0.279000	0.24732	0.984000	0.73092	2.129000	0.42055	0.236000	0.21180	0.555000	0.69702	CGC		0.607	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		189	257	0	0	0	1	0	189	257					A	41955246	G	A	41955246	3	1	112	1	0	0	0	0	1	0	0	0	9775	1116	39	1	74	1	MPP2	17	41955246	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	984431	41955246	39239964	205	36814											
C17orf57	124989	broad.mit.edu	37	chr17	45487057	45487057	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaaattaccaaaggtaaacGgtgagtaagaactttgtata	8	4	0	2	rs565840759	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45487057G>A	ENST00000331493.2	+	21	2689	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Splice_Site_p.E664K	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	760	EF-hand 4.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AAAGGTAAACGGTGAGTAAGA	0.323													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18196	0.0		0.0	False		,,,				2504	0.001					ENST00000331493.2																			0											c.e21+1		EF-hand calcium binding domain 13							131	136	135					17																	45487057		2203	4300	6503	SO:0001630	splice_region_variant	124989							g.chr17:45487057G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2278+1G>A	17.37:g.45487057G>A						CTD-2026D20.2_ENST00000523101.1_RNA|EFCAB13_ENST00000517484.1_Splice_Site_p.E664_splice	p.E760_splice	NM_152347.4	NP_689560.3					21	2689	+								G3V128|Q49AG9	Splice_Site	SNP	ENST00000331493.2	37	c.2278_splice	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	5.318	0.244067	0.10077	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.27256	1.68;1.68	2.46	2.46	0.29980	EF-hand-like domain (1);	0.865207	0.09718	N	0.764851	T	0.26340	0.0643	L	0.58101	1.795	0.32031	N	0.599567	P;D	0.60575	0.787;0.988	B;B	0.42422	0.182;0.387	T	0.41805	-0.9488	10	0.56958	D	0.05	0.4651	8.549	0.33440	0.0:0.0:1.0:0.0	.	760;664	Q8IY85;G3V128	CQ057_HUMAN;.	K	760;664	ENSP00000332111:E760K;ENSP00000430048:E664K	ENSP00000332111:E760K	E	+	1	0	C17orf57	42842056	0.990000	0.36364	0.646000	0.29493	0.069000	0.16628	1.168000	0.31859	1.675000	0.50919	0.461000	0.40582	GAG		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	Missense_Mutation	44	708	0	0	0	1	0	44	708					A	45487057	G	A	45487057	5	1	112	1	0	0	0	0	0	0	1	0	1871	1130	39	1	2348	1	C17orf57	17	45487057	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3531811	45487057	35708153	206	36815											
TBKBP1	9755	broad.mit.edu	37	chr17	45776015	45776015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtggtttggagcagcagctgCggcaacagcaaggcctccag	15	11	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45776015C>T	ENST00000361722.3	+	4	1357	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						GCAGCAGCTGCGGCAACAGCA	0.637											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361722.3																			0				endometrium(5)|kidney(1)|lung(1)	7						c.(508-510)Cgg>Tgg		TBK1 binding protein 1							27	30	29					17																	45776015		1999	4172	6171	SO:0001583	missense	9755				innate immune response			g.chr17:45776015C>T	AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.508C>T	17.37:g.45776015C>T	ENSP00000354777:p.Arg170Trp		OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	934		p.R170W	NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN			4	1357	+			170						Missense_Mutation	SNP	ENST00000361722.3	37	c.508C>T	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211562	0.39102	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.199024	0.40818	N	0.001001	T	0.35480	0.0933	N	0.14661	0.345	0.40791	D	0.983258	D	0.53312	0.959	B	0.44108	0.441	T	0.38672	-0.9650	10	0.87932	D	0	-9.2625	13.9827	0.64315	0.1522:0.8478:0.0:0.0	.	170	A7MCY6	TBKB1_HUMAN	W	170	ENSP00000354777:R170W;ENSP00000446365:R170W	ENSP00000354777:R170W	R	+	1	2	TBKBP1	43131014	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.455000	0.44988	2.642000	0.89623	0.650000	0.86243	CGG		0.637	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	NM_014726		4	54	0	0	0	1	0	4	54					T	45776015	C	T	45776015	3	4	112	1	0	0	0	0	1	0	0	0	15690	759	27	1	522	1	TBKBP1	17	45776015	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	288958	45776015	35419195	207	36816											
PPP1R9B	84687	broad.mit.edu	37	chr17	48212935	48212935	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	caccttgtccaggagcttgtCcatctcctcctttctggcca	7	16	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48212935C>G	ENST00000316878.6	-	11	2379	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	793	Interacts with TGN38. {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						AGGAGCTTGTCCATCTCCTCC	0.642																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(2377-2379)Gac>Cac		protein phosphatase 1, regulatory subunit 9B							32	34	33					17																	48212935		1994	4161	6155	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48212935C>G	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.2377G>C	17.37:g.48212935C>G	ENSP00000475417:p.Asp793His					PPP1R9B_ENST00000501501.2_5'UTR	p.D793H	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN			11	2379	-			793			Interacts with TGN38 (By similarity).		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.2377G>C																																																																																					0.642	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		41	39	0	0	0	1	0	41	39					G	48212935	C	G	48212935	3	3	112	1	0	0	0	0	1	0	0	0	12426	855	30	5	78	5	PPP1R9B	17	48212935	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2436920	48212935	32982275	208	36817											
TOB1	10140	broad.mit.edu	37	chr17	48940610	48940612	+	In_Frame_Del	DEL	GTG	GTG	-													tttctgctgttgttgctgctGtggtggtggtggtggcggtg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48940610_48940612delGTG	ENST00000268957.3	-	3	1195_1197	c.767_769delCAC	c.(766-771)ccacag>cag	p.P256del	TOB1_ENST00000509385.1_5'Flank|TOB1_ENST00000499247.2_In_Frame_Del_p.P256del	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	256	Poly-Pro.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			tgttgctgctgtggtggtggtgg	0.517																																					NSCLC(144;643 1919 24513 29423 40686)	ENST00000499247.2																			0				breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(766-771)cag>c		transducer of ERBB2, 1																																				SO:0001651	inframe_deletion	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48940610_48940612delGTG	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.767_769delCAC	17.37:g.48940619_48940621delGTG	ENSP00000268957:p.Pro256del					TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del	p.PQ256del	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1200_1202	-			256			Poly-Pro.		B2R9T0|D3DTY3|Q4KMQ0	In_Frame_Del	DEL	ENST00000268957.3	37	c.767_769delCAC	CCDS11576.1																																																																																				0.517	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			7	279						7	279	---	---	---	---	-	48940612	GTG	-	48940610	7	5	112	1	0	1	0	1	0	0	0	0	16399	1386	48	0	272	0	TOB1	17	48940610	In_Frame_Del	DEL	GTG	TCGA-US-A776-01A-13D-A33T-08	727675	48940610	32254600	209	36818											
CD300C	10871	broad.mit.edu	37	chr17	72541049	72541050	+	Frame_Shift_Ins	INS	-	-	GC													tcagggatccccccacggggINScccgccacggtcatggggtg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:72541049_72541050insGC	ENST00000330793.1	-	2	458_459	c.98_99insGC	c.(97-99)ggcfs	p.G33fs		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	33	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCCACGGGGCCCGCCACGGT	0.564																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	ENST00000330793.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						c.(97-99)gccfs		CD300c molecule																																				SO:0001589	frameshift_variant	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72541049_72541050insGC	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.98_99insGC	17.37:g.72541049_72541050insGC	ENSP00000329507:p.Gly33fs						p.A33fs	NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN			2	458_459	-			33			Ig-like V-type.			Frame_Shift_Ins	INS	ENST00000330793.1	37	c.98_99insGC	CCDS11701.1																																																																																				0.564	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		9	941						9	941	---	---	---	---	GC	72541050	-	GC	72541049	7	5	112	1	0	1	1	0	0	0	0	0	3006	1190	42	0	587	0	CD300C	17	72541049	Frame_Shift_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	23600439	72541049	8654161	210	36819											
ZACN	353174	broad.mit.edu	37	chr17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccctccgggccattgagcGcataggctacaaggtgacat	12	13	0	2	rs201259366		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0					ENST00000334586.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(781-783)cGc>cAc		zinc activated ligand-gated ion channel							123	114	117					17																	74077738		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74077738G>A	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.782G>A	17.37:g.74077738G>A	ENSP00000334854:p.Arg261His					EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR	p.R261H	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN			7	865	+			261			Leu-rich.		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.782G>A	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		0.622	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	NM_180990		8	1134	0	0	0	1	0	8	1134					A	74077738	G	A	74077738	3	1	112	1	0	0	0	0	1	0	0	0	17564	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1536689	74077738	7117472	211	36820											
TNRC6C	57690	broad.mit.edu	37	chr17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-													ttggacacttgggggatgggAaaaaaaatggatctggatgg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	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)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77	78	78		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	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.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		11	839						11	839	---	---	---	---	-	76046980	A	-	76046980	7	5	112	1	0	1	0	1	0	0	0	0	16394	247	9	0	1839	0	TNRC6C	17	76046980	Frame_Shift_Del	DEL	A	TCGA-US-A776-01A-13D-A33T-08	1969242	76046980	5148230	212	36821											
SMCHD1	23347	broad.mit.edu	37	chr18	2722606	2722606	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tccctctggagtttcaggatGaatttggtcataccagtcaa	9	9	4	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:2722606G>A	ENST00000320876.6	+	20	2886	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	850					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTTCAGGATGAATTTGGTCA	0.358																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2548-2550)Gaa>Aaa		structural maintenance of chromosomes flexible hinge domain containing 1							190	177	181					18																	2722606		1844	4083	5927	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2722606G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2548G>A	18.37:g.2722606G>A	ENSP00000326603:p.Glu850Lys					SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K|RP11-703M24.5_ENST00000583546.1_RNA	p.E850K	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			20	2886	+			850					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2548G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967778	0.92855	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.36	5.36	0.76844	.	0.191648	0.45606	D	0.000346	T	0.35189	0.0923	L	0.29908	0.895	0.38754	D	0.954179	D	0.60575	0.988	P	0.54544	0.755	T	0.20739	-1.0266	10	0.87932	D	0	-26.6941	19.4611	0.94918	0.0:0.0:1.0:0.0	.	850	A6NHR9	SMHD1_HUMAN	K	850	ENSP00000326603:E850K;ENSP00000261598:E850K	ENSP00000261598:E850K	E	+	1	0	SMCHD1	2712606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.242000	0.65389	2.657000	0.90304	0.655000	0.94253	GAA		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			126	2259	0	0	0	1	0	126	2259					A	2722606	G	A	2722606	3	1	112	1	0	0	0	0	1	0	0	0	14838	1291	45	2	2626	2	SMCHD1	18	2722606	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		2722606	75354642	213	36822											
LAMA1	284217	broad.mit.edu	37	chr18	7038885	7038885	+	Frame_Shift_Del	DEL	T	T	-													actcggagcagccccgggggTttttttccttcaagttatag							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:7038885delT	ENST00000389658.3	-	11	1580	c.1487delA	c.(1486-1488)aacfs	p.N496fs		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4. {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)				GCCCCGGGGGTTTTTTTCCTT	0.532																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(1486-1488)acfs		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						81	95	90					18																	7038885		2203	4300	6503	SO:0001589	frameshift_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7038885delT	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.1487delA	18.37:g.7038885delT	ENSP00000374309:p.Asn496fs						p.N496fs	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			11	1580	-		Colorectal(10;0.172)	496			Laminin EGF-like 4.			Frame_Shift_Del	DEL	ENST00000389658.3	37	c.1487delA	CCDS32787.1																																																																																				0.532	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	798						7	798	---	---	---	---	-	7038885	T	-	7038885	7	5	112	1	0	1	0	1	0	0	0	0	8636	1725	60	0	7952	0	LAMA1	18	7038885	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	4316279	7038885	71038363	214	36823											
ANKRD12	23253	broad.mit.edu	37	chr18	9279616	9279616	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtcttggttacaagatGtggatgataaatttgacaaa	9	4	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:9279616G>A	ENST00000262126.4	+	12	6217	c.5977G>A	c.(5977-5979)Gtg>Atg	p.V1993M	ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M|snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.V1970M	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1993						cytoplasm (GO:0005737)|nucleus (GO:0005634)				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						GTTACAAGATGTGGATGATAA	0.313																																						ENST00000383440.2																			0				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						c.(5908-5910)Gtg>Atg		ankyrin repeat domain 12							102	112	108					18																	9279616		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9279616G>A	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.5977G>A	18.37:g.9279616G>A	ENSP00000262126:p.Val1993Met					ANKRD12_ENST00000262126.3_Missense_Mutation_p.V1993M|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M	p.V1970M	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN			11	6165	+			1993					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5908G>A	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117487	0.94385	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.77877	-1.12;-1.13	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.88078	0.2805	10	0.87932	D	0	-9.2931	20.127	0.97984	0.0:0.0:1.0:0.0	.	1970;1993	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	M	1970;1993	ENSP00000372932:V1970M;ENSP00000262126:V1993M	ENSP00000262126:V1993M	V	+	1	0	ANKRD12	9269616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.775000	0.95449	0.585000	0.79938	GTG		0.313	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		14	595	0	0	0	1	0	14	595					A	9279616	G	A	9279616	3	1	112	1	0	0	0	0	1	0	0	0	640	1377	48	2	6019	2	ANKRD12	18	9279616	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2240731	9279616	68797632	215	36824											
HMHA1	23526	broad.mit.edu	37	chr19	1068622	1068622	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccactgacagccgccagcccGggcgagctgcccaccgaggg	14	18	0	1	rs148289980	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:1068622G>A	ENST00000313093.2	+	2	531	c.300G>A	c.(298-300)ccG>ccA	p.P100P	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000539243.2_Silent_p.P116P|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000586866.1_Silent_p.P104P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	100					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)		CCGCCAGCCCGGGCGAGCTGC	0.721													G|||	3	0.000599042	0.0	0.0	5008	,	,		14151	0.0		0.001	False		,,,				2504	0.002					ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(298-300)ccG>ccA		histocompatibility (minor) HA-1		G		0,4228		0,0,2114	15	16	16		300	-8.4	0	19	dbSNP_134	16	3,8305		0,3,4151	no	coding-synonymous	HMHA1	NM_012292.2		0,3,6265	AA,AG,GG		0.0361,0.0,0.0239		100/1137	1068622	3,12533	2114	4154	6268	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1068622G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.300G>A	19.37:g.1068622G>A						HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000586866.1_Silent_p.P104P|HMHA1_ENST00000539243.2_Silent_p.P116P|HMHA1_ENST00000536472.1_Intron	p.P100P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	531	+		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)	100					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.300G>A	CCDS32863.1																																																																																				0.721	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			7	170	0	0	0	1	0	7	170					A	1068622	G	A	1068622	2	1	112	1	0	0	0	0	0	0	0	1	7270	1103	39	1		1	HMHA1	19	1068622	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1068622	58060361	216	36825											
NCLN	56926	broad.mit.edu	37	chr19	3207651	3207651	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcctctacaagaccGtccagaggctgctcgtgaag	10	14	2	3	rs376816862		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:3207651G>A	ENST00000246117.4	+	15	2088	c.1657G>A	c.(1657-1659)Gtc>Atc	p.V553I	NCLN_ENST00000590671.1_Missense_Mutation_p.V479I|NCLN_ENST00000591062.1_3'UTR	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	553					regulation of signal transduction (GO:0009966)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACAAGACCGTCCAGAGGCT	0.657																																						ENST00000246117.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(1657-1659)Gtc>Atc		nicalin		G	ILE/VAL	0,4406		0,0,2203	45	39	41		1657	3.6	0.9	19		41	1,8597	1.2+/-3.3	0,1,4298	no	missense	NCLN	NM_020170.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	553/564	3207651	1,13003	2203	4299	6502	SO:0001583	missense	56926				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding	g.chr19:3207651G>A	BC025926	CCDS32869.1	19p13.3	2010-08-13	2010-08-13			ENSG00000125912			26923	protein-coding gene	gene with protein product	"nicastrin-like protein"	609156	"nicalin homolog (zebrafish)"			11230166	Standard	NM_020170		Approved	NICALIN, NET59	uc002lxi.3	Q969V3		ENST00000246117.4:c.1657G>A	19.37:g.3207651G>A	ENSP00000246117:p.Val553Ile					NCLN_ENST00000591062.1_3'UTR|NCLN_ENST00000590671.1_Missense_Mutation_p.V479I	p.V553I	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2088	+		Hepatocellular(1079;0.137)	553					D6W613|O75252|Q6FI60|Q6ZMB7|Q8TAT7|Q96H48|Q96IS7|Q9BQH9|Q9BTX4|Q9NPP2	Missense_Mutation	SNP	ENST00000246117.4	37	c.1657G>A	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033711	0.35893	0.0	1.16E-4	ENSG00000125912	ENST00000246117	T	0.32988	1.43	3.61	3.61	0.41365	.	0.388892	0.23910	N	0.043345	T	0.14787	0.0357	N	0.14661	0.345	0.43287	D	0.99526	B;B	0.21821	0.061;0.036	B;B	0.17098	0.017;0.008	T	0.08953	-1.0697	10	0.17832	T	0.49	-16.7764	6.8208	0.23857	0.1277:0.0:0.8723:0.0	.	552;553	Q969V3-2;Q969V3	.;NCLN_HUMAN	I	553	ENSP00000246117:V553I	ENSP00000246117:V553I	V	+	1	0	NCLN	3158651	0.994000	0.37717	0.918000	0.36340	0.722000	0.41435	2.613000	0.46351	1.848000	0.53677	0.561000	0.74099	GTC		0.657	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	NM_020170		4	220	0	0	0	1	0	4	220					A	3207651	G	A	3207651	3	1	112	1	0	0	0	0	1	0	0	0	10269	1145	40	1	1715	1	NCLN	19	3207651	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2139029	3207651	55921332	217	36826											
KRI1	65095	broad.mit.edu	37	chr19	10673457	10673457	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccttcaggtacatgggccGcactttcttctgcttctcca	8	14	4	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:10673457G>A	ENST00000312962.6	-	4	368	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Missense_Mutation_p.R113W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	111	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)			TACATGGGCCGCACTTTCTTC	0.557																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(349-351)Cgg>Tgg		KRI1 homolog (S. cerevisiae)							282	229	247					19																	10673457		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10673457G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.349C>T	19.37:g.10673457G>A	ENSP00000320917:p.Arg117Trp					KRI1_ENST00000537964.1_Intron|KRI1_ENST00000361821.5_Missense_Mutation_p.R113W	p.R117W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		4	368	-			117			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.349C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497981	0.64186	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101;ENST00000539027	T;T;T	0.34472	1.36;1.36;1.36	4.36	2.0	0.26442	.	0.498135	0.18588	N	0.136801	T	0.27098	0.0664	L	0.39898	1.24	0.09310	N	0.999998	D;D	0.63046	0.985;0.992	B;B	0.40534	0.232;0.332	T	0.15292	-1.0442	10	0.87932	D	0	-0.1422	9.9337	0.41539	0.0:0.0:0.3644:0.6356	.	117;113	Q8N9T8;D3YTE0	KRI1_HUMAN;.	W	117;113;117;108	ENSP00000320917:R117W;ENSP00000355366:R113W;ENSP00000445789:R108W	ENSP00000320917:R117W	R	-	1	2	KRI1	10534457	0.335000	0.24748	0.040000	0.18447	0.690000	0.40134	2.616000	0.46376	0.775000	0.33450	0.393000	0.25936	CGG		0.557	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		8	855	0	0	0	1	0	8	855					A	10673457	G	A	10673457	3	1	112	1	0	0	0	0	1	0	0	0	8474	1086	38	1	1844	1	KRI1	19	10673457	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	7465806	10673457	48455526	218	36827											
ZNF709	163051	broad.mit.edu	37	chr19	12575548	12575548	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	7	9	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:12575548C>T	ENST00000397732.3	-	4	1359	c.1188G>A	c.(1186-1188)caG>caA	p.Q396Q	ZNF709_ENST00000428311.1_Silent_p.Q396Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1186-1188)caG>caA		zinc finger protein 709																																				SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575548C>T	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.1188G>A	19.37:g.12575548C>T						CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q396Q	p.Q396Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1359	-			396					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1188G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	512	0	0	0	1	0	6	512					T	12575548	C	T	12575548	2	4	112	1	0	0	0	0	0	0	0	1	18166	564	20	2		2	ZNF709	19	12575548	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1902091	12575548	46553435	219	36828											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	20	6	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597																																						ENST00000221700.5																			1	Substitution - coding silent(1)	p.C102C(1)	kidney(1)	NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)tgC>tgT		cytochrome P450, family 4, subfamily F, polypeptide 2							121	130	127					19																	16006353		2203	4300	6503	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16006353G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.306C>T	19.37:g.16006353G>A						CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	p.C102C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			3	401	-			102						Silent	SNP	ENST00000221700.6	37	c.306C>T	CCDS12336.1																																																																																				0.597	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		9	1157	0	0	0	1	0	9	1157					A	16006353	G	A	16006353	2	1	112	1	0	0	0	0	0	0	0	1	4199	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3430805	16006353	43122630	220	36829											
TM6SF2	53345	broad.mit.edu	37	chr19	19381000	19381000	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttctgcagatggcgccgGccatggccaggtagaggagg	16	11	1	2	rs200162798		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:19381000G>A	ENST00000389363.4	-	4	455	c.383C>T	c.(382-384)gCc>gTc	p.A128V	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	128						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GATGGCGCCGGCCATGGCCAG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16836	0.0		0.001	False		,,,				2504	0.0					ENST00000389363.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(382-384)gCc>gTc		transmembrane 6 superfamily member 2							41	44	43					19																	19381000		2069	4207	6276	SO:0001583	missense	53345					integral to membrane		g.chr19:19381000G>A	AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.383C>T	19.37:g.19381000G>A	ENSP00000374014:p.Ala128Val					TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	p.A128V	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	Epithelial(12;0.0151)		4	455	-			128					Q0IJ64	Missense_Mutation	SNP	ENST00000389363.4	37	c.383C>T	CCDS42528.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.00|12.00	1.807588|1.807588	0.31961|0.31961	.|.	.|.	ENSG00000213996|ENSG00000213996	ENST00000389363;ENST00000269990|ENST00000431465	T|.	0.16897|.	2.31|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	1.234380|.	0.06107|.	U|.	0.666399|.	T|T	0.44540|0.44540	0.1298|0.1298	N|N	0.20530|0.20530	0.585|0.585	0.36402|0.36402	D|D	0.863169|0.863169	B|.	0.22800|.	0.075|.	B|.	0.17098|.	0.017|.	T|T	0.56854|0.56854	-0.7910|-0.7910	10|6	0.02654|0.87932	T|D	1|0	-2.6873|-2.6873	8.9715|8.9715	0.35910|0.35910	0.1014:0.0:0.8986:0.0|0.1014:0.0:0.8986:0.0	.|.	128|.	Q9BZW4|.	TM6S2_HUMAN|.	V|S	128|151	ENSP00000374014:A128V|.	ENSP00000269990:A128V|ENSP00000391180:P151S	A|P	-|-	2|1	0|0	TM6SF2|TM6SF2	19242000|19242000	0.998000|0.998000	0.40836|0.40836	0.912000|0.912000	0.35992|0.35992	0.768000|0.768000	0.43524|0.43524	4.136000|4.136000	0.58004|0.58004	2.196000|2.196000	0.70406|0.70406	0.505000|0.505000	0.49811|0.49811	GCC|CCG		0.642	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	NM_203510		5	444	0	0	0	1	0	5	444					A	19381000	G	A	19381000	3	1	112	1	0	0	0	0	1	0	0	0	16025	1203	42	2	778	2	TM6SF2	19	19381000	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3374647	19381000	39747983	221	36830											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			9	1432						9	1432	---	---	---	---	-	36255949	CTC	-	36255947	7	5	112	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-US-A776-01A-13D-A33T-08	16874947	36255947	22873036	222	36831											
RYR1	6261	broad.mit.edu	37	chr19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccccgactccctcacgacGtggtgcctgcagacaaccgc	10	18	1	1	rs376330174		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:38966037G>A	ENST00000359596.3	+	29	4240	c.4240G>A	c.(4240-4242)Gtg>Atg	p.V1414M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1414M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1414	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCACGACGTGGTGCCTGC	0.612																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(4240-4242)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	54	44	47		4240,4240	5.1	0.9	19		47	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1414/5039,1414/5034	38966037	1,13005	2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38966037G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4240G>A	19.37:g.38966037G>A	ENSP00000352608:p.Val1414Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1414M	p.V1414M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		29	4371	+	all_cancers(60;7.91e-06)		1414			6 X approximate repeats.|B30.2/SPRY 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4240G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056305	0.36277	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97378	-4.36;-4.36;-4.36	5.12	5.12	0.69794	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000014	D	0.98012	0.9345	M	0.72118	2.19	0.42879	D	0.994168	D;D	0.89917	1.0;0.998	D;P	0.68192	0.956;0.851	D	0.98185	1.0459	10	0.40728	T	0.16	.	17.3403	0.87293	0.0:0.0:1.0:0.0	.	1414;1414	P21817-2;P21817	.;RYR1_HUMAN	M	1414	ENSP00000352608:V1414M;ENSP00000347667:V1414M;ENSP00000354254:V1414M	ENSP00000347667:V1414M	V	+	1	0	RYR1	43657877	1.000000	0.71417	0.894000	0.35097	0.039000	0.13416	5.869000	0.69613	2.388000	0.81334	0.462000	0.41574	GTG		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			35	148	0	0	0	1	0	35	148					A	38966037	G	A	38966037	3	1	112	1	0	0	0	0	1	0	0	0	13818	1145	40	1	4354	1	RYR1	19	38966037	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2710090	38966037	20162946	223	36832											
ZFP36	7538	broad.mit.edu	37	chr19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-													gccctctggccgccggacctCaccaccaccaccaggcctgg							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	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.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	682_684	+	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)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				7	1594						7	1594	---	---	---	---	-	39898950	CAC	-	39898948	7	5	112	1	0	1	0	1	0	0	0	0	17698	838	29	0	596	0	ZFP36	19	39898948	In_Frame_Del	DEL	CAC	TCGA-US-A776-01A-13D-A33T-08	932911	39898948	19230035	224	36833											
ATP5SL	55101	broad.mit.edu	37	chr19	41944258	41944258	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgccctctggggccactgccGcacccaggcgatggatgccc	13	17	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:41944258G>A	ENST00000221943.9	-	2	85	c.80C>T	c.(79-81)gCg>gTg	p.A27V	ATP5SL_ENST00000595425.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	27						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGCCACTGCCGCACCCAGGCG	0.587																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(79-81)gCg>gTg		ATP5S-like							92	83	86					19																	41944258		2203	4300	6503	SO:0001583	missense	55101							g.chr19:41944258G>A	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.80C>T	19.37:g.41944258G>A	ENSP00000221943:p.Ala27Val					ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V	p.A27V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			2	85	-			27					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	ENST00000221943.9	37	c.80C>T	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383695	0.61845	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.24723	3.07;1.86;3.05;1.84	3.35	1.13	0.20643	.	0.571779	0.16030	N	0.232930	T	0.07908	0.0198	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B	0.27765	0.002;0.087;0.087;0.087;0.02;0.188;0.188	B;B;B;B;B;B;B	0.23419	0.008;0.012;0.012;0.012;0.019;0.046;0.046	T	0.28267	-1.0049	10	0.27082	T	0.32	-9.849	3.8708	0.09036	0.0:0.5652:0.2008:0.234	.	33;33;27;27;27;27;33	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	V	27;27;33;33;103	ENSP00000221943:A27V;ENSP00000397413:A27V;ENSP00000403910:A33V;ENSP00000301183:A33V	ENSP00000221943:A27V	A	-	2	0	ATP5SL	46636098	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.066000	0.14489	0.076000	0.16826	-0.120000	0.15030	GCG		0.587	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		6	348	0	0	0	1	0	6	348					A	41944258	G	A	41944258	3	1	112	1	0	0	0	0	1	0	0	0	1165	1087	38	1	713	1	ATP5SL	19	41944258	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	2045310	41944258	17184725	225	36834											
TEX101	83639	broad.mit.edu	37	chr19	43922332	43922332	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttctataggtggcattgagtCgtctgtggaggtcaaaggct	14	6	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43922332C>A	ENST00000598265.1	+	6	699	c.533C>A	c.(532-534)tCg>tAg	p.S178*	TEX101_ENST00000602198.1_Nonsense_Mutation_p.S196*|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	178	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGCATTGAGTCGTCTGTGGAG	0.522																																						ENST00000602198.1																			0				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(586-588)tCg>tAg		testis expressed 101							95	90	92					19																	43922332		2203	4300	6503	SO:0001587	stop_gained	83639					anchored to membrane|plasma membrane		g.chr19:43922332C>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.533C>A	19.37:g.43922332C>A	ENSP00000472769:p.Ser178*					TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Nonsense_Mutation_p.S178*|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	p.S196*	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN			8	1029	+		Prostate(69;0.0199)	178					Q7L5R2|Q9BPY7	Nonsense_Mutation	SNP	ENST00000598265.1	37	c.587C>A	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252496	0.39797	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	.	.	.	4.28	3.25	0.37280	.	0.879578	0.09434	N	0.802755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9191	8.0831	0.30756	0.0:0.8919:0.0:0.1081	.	.	.	.	X	196;191	.	ENSP00000253435:S196X	S	+	2	0	TEX101	48614172	0.001000	0.12720	0.002000	0.10522	0.037000	0.13140	1.237000	0.32695	1.391000	0.46566	0.563000	0.77884	TCG		0.522	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		22	508	1	0	1.55469e-16	1	1.64368e-16	22	508					A	43922332	C	A	43922332	4	1	112	1	0	0	0	0	0	1	0	0	15825	893	31	3	609	3	TEX101	19	43922332	Nonsense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1978074	43922332	15206651	226	36835											
ZNF180	7733	broad.mit.edu	37	chr19	44981580	44981580	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttctcccctgtgtgagttCtctgatgtgcaacaagatgc	10	10	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:44981580C>A	ENST00000221327.4	-	5	1399	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I|ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	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)	p.R373I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGTGTGAGTTCTCTGATGTGC	0.433																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			1	Substitution - Missense(1)	p.R373I(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1117-1119)aGa>aTa		zinc finger protein 180							79	79	79					19																	44981580		2203	4299	6502	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981580C>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1118G>T	19.37:g.44981580C>A	ENSP00000221327:p.Arg373Ile					ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I	p.R373I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	1399	-		Prostate(69;0.0435)	373					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1118G>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527425	0.64860	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.28	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000322	T	0.44993	0.1320	M	0.73962	2.25	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.991	P;P;P	0.57960	0.82;0.83;0.83	T	0.49790	-0.8902	10	0.87932	D	0	-25.9269	13.6071	0.62054	0.156:0.844:0.0:0.0	.	348;372;373	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	373;348	ENSP00000221327:R373I;ENSP00000375818:R348I	ENSP00000221327:R373I	R	-	2	0	ZNF180	49673420	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-1.112000	0.03299	2.444000	0.82710	0.655000	0.94253	AGA		0.433	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		28	656	1	0	7.01153e-11	1	7.26608e-11	28	656					A	44981580	C	A	44981580	3	1	112	1	0	0	0	0	1	0	0	0	17801	913	32	3	964	3	ZNF180	19	44981580	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	1059248	44981580	14147403	227	36836											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		8	172						8	172	---	---	---	---	-	45381751	GAG	-	45381749	6	5	112	0	1	1	0	1	0	0	0	0	12890	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-US-A776-01A-13D-A33T-08	400169	45381749	13747234	228	36837											
CYTH2	9266	broad.mit.edu	37	chr19	48981402	48981402	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactactttgagtacaccacGgtgagcgtgacccgacccgg	11	13	0	3	rs530989167		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:48981402G>A	ENST00000452733.2	+	9	1361	c.885G>A	c.(883-885)acG>acA	p.T295T	CTC-273B12.8_ENST00000599877.1_lincRNA|CYTH2_ENST00000427476.1_Splice_Site_p.T296T			Q99418	CYH2_HUMAN	cytohesin 2	296	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						AGTACACCACGGTGAGCGTGA	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13767	0.0		0.0	False		,,,				2504	0.0					ENST00000427476.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.e9+1		cytohesin 2							55	54	54					19																	48981402		2203	4300	6503	SO:0001630	splice_region_variant	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48981402G>A	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.885+1G>A	19.37:g.48981402G>A						CYTH2_ENST00000452733.2_Splice_Site_p.T295_splice	p.T296_splice	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN			9	1188	+			296			PH.		A8K8P0|Q8IXY9|Q92958	Splice_Site	SNP	ENST00000452733.2	37	c.888_splice	CCDS12722.1																																																																																				0.652	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	NM_004228	Silent	22	316	0	0	0	1	0	22	316					A	48981402	G	A	48981402	5	1	112	1	0	0	0	0	0	0	1	0	4215	1130	39	1	922	1	CYTH2	19	48981402	Splice_Site	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3599653	48981402	10147581	229	36838											
LRRC4B	94030	broad.mit.edu	37	chr19	51021944	51021944	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgccccttgaggccggcgggCgcatgacagcgggcgcagca	17	15	0	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51021944C>T	ENST00000599957.1	-	3	1223	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	LRRC4B_ENST00000389201.3_Silent_p.A342A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	342	LRRCT.				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)		GGCCGGCGGGCGCATGACAGC	0.652																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1024-1026)gcG>gcA		leucine rich repeat containing 4B							36	43	41					19																	51021944		2137	4222	6359	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021944C>T	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.1026G>A	19.37:g.51021944C>T						LRRC4B_ENST00000389201.3_Silent_p.A342A	p.A342A			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1223	-		all_neural(266;0.131)	342			LRRCT.		Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1026G>A	CCDS42595.1																																																																																				0.652	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		56	307	0	0	0	1	0	56	307					T	51021944	C	T	51021944	2	4	112	1	0	0	0	0	0	0	0	1	9045	755	27	1		1	LRRC4B	19	51021944	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2040542	51021944	8107039	230	36839											
SYT3	84258	broad.mit.edu	37	chr19	51135733	51135733	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggatacgagtccatgtccaAgtaggagggctcaggggtgt	16	7	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135733A>C	ENST00000338916.4	-	2	1117	c.484T>G	c.(484-486)Ttg>Gtg	p.L162V	SYT3_ENST00000593901.1_Missense_Mutation_p.L162V|SYT3_ENST00000544769.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	162					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)		TCCATGTCCAAGTAGGAGGGC	0.657																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(484-486)Ttg>Gtg		synaptotagmin III							25	25	25					19																	51135733		2202	4299	6501	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135733A>C	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.484T>G	19.37:g.51135733A>C	ENSP00000340914:p.Leu162Val					SYT3_ENST00000544769.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000593901.1_Missense_Mutation_p.L162V	p.L162V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	1117	-		all_neural(266;0.131)	162					Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.484T>G	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884129	0.51908	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60299	0.2;0.2	4.59	-1.9	0.07665	.	0.162709	0.28268	U	0.015977	T	0.57021	0.2025	L	0.29908	0.895	0.48632	D	0.999683	D	0.63880	0.993	D	0.67548	0.952	T	0.52155	-0.8613	10	0.32370	T	0.25	.	11.5224	0.50560	0.4141:0.0:0.5859:0.0	.	162	Q9BQG1	SYT3_HUMAN	V	162	ENSP00000340914:L162V;ENSP00000438883:L162V	ENSP00000340914:L162V	L	-	1	2	SYT3	55827545	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.388000	0.34442	-0.290000	0.09025	0.460000	0.39030	TTG		0.657	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		74	201	0	0	0	1	0	74	201					C	51135733	A	C	51135733	3	2	112	1	0	0	0	0	1	0	0	0	15527	69	3	4	1316	4	SYT3	19	51135733	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	113789	51135733	7993250	231	36840											
SYT3	84258	broad.mit.edu	37	chr19	51135878	51135878	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgccaggtggtgcccGcctccgcctaccaggcctgc	12	20	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135878G>A	ENST00000338916.4	-	2	972	c.339C>T	c.(337-339)ggC>ggT	p.G113G	SYT3_ENST00000593901.1_Silent_p.G113G|SYT3_ENST00000544769.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	113					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)		GGTGGTGCCCGCCTCCGCCTA	0.726																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(337-339)ggC>ggT		synaptotagmin III							16	19	18					19																	51135878		2199	4292	6491	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51135878G>A	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.339C>T	19.37:g.51135878G>A						SYT3_ENST00000544769.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000593901.1_Silent_p.G113G	p.G113G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	2	972	-		all_neural(266;0.131)	113					Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.339C>T	CCDS12798.1																																																																																				0.726	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		12	204	0	0	0	1	0	12	204					A	51135878	G	A	51135878	2	1	112	1	0	0	0	0	0	0	0	1	15527	1074	38	1		1	SYT3	19	51135878	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	145	51135878	7993105	232	36841											
C19orf75	284369	broad.mit.edu	37	chr19	51767330	51767330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgttgctgctggaagtgatgCttccactgctacagctgggt	13	9	0	1	rs374273575		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51767330C>A	ENST00000316401.7	+	2	385	c.4C>A	c.(4-6)Ctt>Att	p.L2I	CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.L2I|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	0					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										GGAAGTGATGCTTCCACTGCT	0.527																																						ENST00000316401.7																			0											c.(4-6)Ctt>Att		SIGLEC family like 1							154	125	135					19																	51767330		2203	4300	6503	SO:0001583	missense	284369							g.chr19:51767330C>A	AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 75", "sialic acid binding Ig-like lectin 23, pseudogene", "sialic acid binding Ig-like lectin, pseudogene 7"	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.4C>A	19.37:g.51767330C>A	ENSP00000321249:p.Leu2Ile					SIGLECL1_ENST00000593968.1_3'UTR|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Missense_Mutation_p.L2I	p.L2I	NM_173635.1	NP_775906.1					2	385	+								Q8IYH7	Missense_Mutation	SNP	ENST00000316401.7	37	c.4C>A	CCDS12827.1	.	.	.	.	.	.	.	.	.	.	C	8.228	0.803908	0.16467	.	.	ENSG00000179213	ENST00000316401	T	0.36157	1.27	2.75	0.38	0.16222	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	P;B	0.36683	0.565;0.313	B;B	0.33799	0.17;0.105	T	0.13335	-1.0513	9	0.38643	T	0.18	-6.1299	4.9206	0.13867	0.2472:0.5118:0.2409:0.0	.	2;2	B7ZLS6;Q8N7X8	.;CS075_HUMAN	I	2	ENSP00000321249:L2I	ENSP00000321249:L2I	L	+	1	0	C19orf75	56459142	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.661000	0.05311	0.165000	0.19558	0.650000	0.86243	CTT		0.527	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635		31	476	1	0	2.42023e-17	1	2.56741e-17	31	476					A	51767330	C	A	51767330	3	1	112	1	0	0	0	0	1	0	0	0	1956	797	28	3	6	3	C19orf75	19	51767330	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	631452	51767330	7361653	233	36842											
NLRP8	126205	broad.mit.edu	37	chr19	56467042	56467042	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgagccacgtgaatatccagCgcctgatagcgagtcccaga	11	12	0	4			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:56467042C>T	ENST00000291971.3	+	3	1689	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	540					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)		GAATATCCAGCGCCTGATAGC	0.463																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1618-1620)Cgc>Tgc		NLR family, pyrin domain containing 8							107	104	105					19																	56467042		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467042C>T	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.1618C>T	19.37:g.56467042C>T	ENSP00000291971:p.Arg540Cys					NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1689	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	540					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1618C>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.528	-0.096249	0.07010	.	.	ENSG00000179709	ENST00000291971	D	0.88354	-2.37	2.04	-4.08	0.03963	.	.	.	.	.	T	0.77061	0.4075	L	0.28400	0.85	0.09310	N	1	B;B	0.28512	0.214;0.004	B;B	0.19391	0.025;0.002	T	0.61540	-0.7042	9	0.54805	T	0.06	.	3.8082	0.08786	0.1866:0.2595:0.0:0.5539	.	540;540	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	540	ENSP00000291971:R540C	ENSP00000291971:R540C	R	+	1	0	NLRP8	61158854	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.174000	0.01264	-1.334000	0.02244	-0.290000	0.09829	CGC		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		16	478	0	0	0	1	0	16	478					T	56467042	C	T	56467042	3	4	112	1	0	0	0	0	1	0	0	0	10525	768	27	1	1628	1	NLRP8	19	56467042	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	4699712	56467042	2661941	234	36843											
FASTKD5	60493	broad.mit.edu	37	chr20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaacctaggtactttgCggcctaagtacctccagaga	8	10	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	256			R -> C (in dbSNP:rs3746700).		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						AGGTACTTTGCGGCCTAAGTA	0.393																																						ENST00000380266.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						c.(766-768)cGc>cAc		FAST kinase domains 5							43	45	44					20																	3128950		2197	4300	6497	SO:0001583	missense	60493				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr20:3128950C>T	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.767G>A	20.37:g.3128950C>T	ENSP00000369618:p.Arg256His					UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	p.R256H	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN			2	1088	-			256		R -> C (in dbSNP:rs3746700).			Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	ENST00000380266.3	37	c.767G>A	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344047	0.05208	.	.	ENSG00000215251	ENST00000380266	T	0.15834	2.39	5.77	-5.54	0.02544	.	0.210965	0.36854	N	0.002379	T	0.07234	0.0183	N	0.20986	0.625	0.09310	N	0.999996	B	0.17268	0.021	B	0.10450	0.005	T	0.35895	-0.9770	10	0.13470	T	0.59	.	7.9106	0.29789	0.0985:0.4191:0.0:0.4824	.	256	Q7L8L6	FAKD5_HUMAN	H	256	ENSP00000369618:R256H	ENSP00000369618:R256H	R	-	2	0	FASTKD5	3076950	0.000000	0.05858	0.084000	0.20598	0.068000	0.16541	-0.182000	0.09726	-1.106000	0.03008	-0.459000	0.05422	CGC		0.393	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	NM_021826		5	336	0	0	0	1	0	5	336					T	3128950	C	T	3128950	3	4	112	1	0	0	0	0	1	0	0	0	5713	768	27	1	1531	1	FASTKD5	20	3128950	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08		3128950	59896570	235	36844											
SLC4A11	83959	broad.mit.edu	37	chr20	3214843	3214843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagcggcgaagcatggtccGcagcacgttatccagggagg	16	10	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3214843G>A	ENST00000380056.3	-	4	504	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	SLC4A11_ENST00000380059.3_Missense_Mutation_p.R180W|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R137W	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	153					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						AGCATGGTCCGCAGCACGTTA	0.627																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(538-540)Cgg>Tgg		solute carrier family 4, sodium borate transporter, member 11							129	119	122					20																	3214843		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214843G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.457C>T	20.37:g.3214843G>A	ENSP00000369396:p.Arg153Trp					SLC4A11_ENST00000539553.1_Missense_Mutation_p.R137W|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Missense_Mutation_p.R153W	p.R180W	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			5	639	-			153					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.538C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315762	0.40996	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.06	3.08	0.35506	Phosphotransferase/anion transporter (1);	0.291763	0.33040	N	0.005342	D	0.84415	0.5467	L	0.60455	1.87	0.32057	N	0.59625	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62014	0.897;0.792;0.792	D	0.85438	0.1153	10	0.66056	D	0.02	.	11.0562	0.47920	0.1383:0.0:0.8617:0.0	.	137;180;153	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	W	180;153;137;137	ENSP00000369399:R180W;ENSP00000369396:R153W;ENSP00000441370:R137W;ENSP00000404271:R137W	ENSP00000369396:R153W	R	-	1	2	SLC4A11	3162843	0.964000	0.33143	0.996000	0.52242	0.142000	0.21351	3.096000	0.50243	2.338000	0.79540	0.655000	0.94253	CGG		0.627	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			6	692	0	0	0	1	0	6	692					A	3214843	G	A	3214843	3	1	112	1	0	0	0	0	1	0	0	0	14702	1086	38	1	2282	1	SLC4A11	20	3214843	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	85893	3214843	59810677	236	36845											
SIGLEC1	6614	broad.mit.edu	37	chr20	3682127	3682127	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagaggtaccactgaagcGtgggctgtgatcactgtccc	12	12	1	3	rs200340665		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3682127G>A	ENST00000344754.4	-	6	1389	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	464	Ig-like C2-type 4.		R -> H (in dbSNP:rs34924243).		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						CCACTGAAGCGTGGGCTGTGA	0.607																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1390-1392)Cgc>Tgc		sialic acid binding Ig-like lectin 1, sialoadhesin		G	CYS/ARG	0,4406		0,0,2203	103	78	87		1390	4.7	1	20		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIGLEC1	NM_023068.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	464/1710	3682127	1,13005	2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682127G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1390C>T	20.37:g.3682127G>A	ENSP00000341141:p.Arg464Cys					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	p.R464C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			6	1389	-			464		R -> H (in dbSNP:rs34924243).	Ig-like C2-type 4.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.1390C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365905	0.61513	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.80214	-1.35;-1.35	5.69	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000902	D	0.90232	0.6946	M	0.90309	3.105	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.90798	0.4692	10	0.59425	D	0.04	.	11.0231	0.47730	0.0:0.0:0.7041:0.2959	.	464;464	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	464	ENSP00000341141:R464C;ENSP00000202578:R464C	ENSP00000202578:R464C	R	-	1	0	SIGLEC1	3630127	0.977000	0.34250	0.968000	0.41197	0.533000	0.34776	1.794000	0.38774	2.676000	0.91093	0.655000	0.94253	CGC		0.607	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		19	465	0	0	0	1	0	19	465					A	3682127	G	A	3682127	3	1	112	1	0	0	0	0	1	0	0	0	14355	1145	40	1	3803	1	SIGLEC1	20	3682127	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	467284	3682127	59343393	237	36846											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-													catagtcttggaggaggaacTttttttggtctctgctgtct							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					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						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141	152	148					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	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.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	1247						7	1247	---	---	---	---	-	3893120	T	-	3893120	7	5	112	1	0	1	0	1	0	0	0	0	11459	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	210993	3893120	59132400	238	36847											
C20orf186	149954	broad.mit.edu	37	chr20	31673895	31673895	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtccggctgaccatggaccGcacgggttatcctcggctgg	15	13	0	1	rs200540628	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:31673895G>A	ENST00000375483.3	+	5	851	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	284						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ACCATGGACCGCACGGGTTAT	0.592													G|||	2	0.000399361	0.0	0.0	5008	,	,		21226	0.001		0.0	False		,,,				2504	0.001					ENST00000375483.3																			0											c.(850-852)cGc>cAc		BPI fold containing family B, member 4							118	99	105					20																	31673895		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31673895G>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.851G>A	20.37:g.31673895G>A	ENSP00000364632:p.Arg284His						p.R284H	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			5	851	+			284					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.851G>A	CCDS13213.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.57	3.852447	0.71719	.	.	ENSG00000186191	ENST00000375483	T	0.05580	3.42	3.94	3.94	0.45596	.	0.322425	0.26352	N	0.024879	T	0.08670	0.0215	N	0.08118	0	0.33665	D	0.610209	D	0.76494	0.999	D	0.63877	0.919	T	0.31223	-0.9951	10	0.51188	T	0.08	-8.7129	11.3408	0.49531	0.0:0.0:1.0:0.0	.	284	P59827	BPIB4_HUMAN	H	284	ENSP00000364632:R284H	ENSP00000364632:R284H	R	+	2	0	BPIFB4	31137556	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	2.788000	0.47806	2.028000	0.59812	0.491000	0.48974	CGC		0.592	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		9	1413	0	0	0	1	0	9	1413					A	31673895	G	A	31673895	3	1	112	1	0	0	0	0	1	0	0	0	2105	1087	38	1	869	1	C20orf186	20	31673895	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	27780775	31673895	31351625	239	36848											
GNAS	2778	broad.mit.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	10	13	2	1	rs11554273		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		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)	p.R201C(228)|p.R844C(9)|p.R201S(5)		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)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		242	Substitution - Missense(242)	p.R201C(228)|p.R844C(9)|p.R201S(5)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)Cgt>Tgt		GNAS complex locus							80	78	79					20																	57484420		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484420C>T	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.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys	TSP Lung(22;0.16)				GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C	p.R844C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3082	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2530C>T	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		203	143	0	0	0	1	0	203	143					T	57484420	C	T	57484420	3	4	112	1	0	0	0	0	1	0	0	0	6539	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	25810525	57484420	5541100	240	36849											
ZNF831	128611	broad.mit.edu	37	chr20	57766735	57766735	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaaggggacaaggccGgagagccccccagaccagag	17	11	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57766735G>A	ENST00000371030.2	+	1	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	221							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)					GGACAAGGCCGGAGAGCCCCC	0.701																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(661-663)Gga>Aga		zinc finger protein 831							24	31	28					20																	57766735		1872	4099	5971	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766735G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.661G>A	20.37:g.57766735G>A	ENSP00000360069:p.Gly221Arg						p.G221R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	661	+	all_lung(29;0.0085)		221					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.661G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585600	0.28268	.	.	ENSG00000124203	ENST00000371030	T	0.05139	3.49	4.89	3.92	0.45320	.	.	.	.	.	T	0.03783	0.0107	L	0.27053	0.805	0.09310	N	1	P	0.43885	0.82	B	0.26517	0.07	T	0.41448	-0.9508	9	0.38643	T	0.18	-0.5148	9.5927	0.39557	0.0805:0.1439:0.7756:0.0	.	221	Q5JPB2	ZN831_HUMAN	R	221	ENSP00000360069:G221R	ENSP00000360069:G221R	G	+	1	0	ZNF831	57200130	0.059000	0.20769	0.001000	0.08648	0.252000	0.25951	1.423000	0.34837	1.030000	0.39839	0.561000	0.74099	GGA		0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		5	352	0	0	0	1	0	5	352					A	57766735	G	A	57766735	3	1	112	1	0	0	0	0	1	0	0	0	18238	1117	39	1	663	1	ZNF831	20	57766735	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	282315	57766735	5258785	241	36850											
LAMA5	3911	broad.mit.edu	37	chr20	60891034	60891034	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagcatggcctgcgccgCctggatgtgcgcctccagct	14	15	0	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:60891034C>A	ENST00000252999.3	-	58	7903	c.7837G>T	c.(7837-7839)Gcg>Tcg	p.A2613S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2613	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)			GCCTGCGCCGCCTGGATGTGC	0.692																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(7837-7839)Gcg>Tcg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						25	24	24					20																	60891034		2186	4282	6468	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60891034C>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7837G>T	20.37:g.60891034C>A	ENSP00000252999:p.Ala2613Ser						p.A2613S	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		58	7903	-	Breast(26;1.57e-08)		2613			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.7837G>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	4.443	0.081997	0.08533	.	.	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.24	3.29	0.37713	.	0.752565	0.11809	U	0.527370	T	0.07188	0.0182	N	0.05124	-0.11	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.40117	-0.9580	10	0.08179	T	0.78	.	8.0425	0.30529	0.0:0.8833:0.0:0.1167	.	2613	O15230	LAMA5_HUMAN	S	2613	ENSP00000252999:A2613S	ENSP00000252999:A2613S	A	-	1	0	LAMA5	60324429	0.000000	0.05858	0.009000	0.14445	0.039000	0.13416	0.166000	0.16583	0.768000	0.33290	0.486000	0.48141	GCG		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		5	86	1	0	5.9392e-07	1	6.0549e-07	5	86					A	60891034	C	A	60891034	3	1	112	1	0	0	0	0	1	0	0	0	8640	739	26	3	3342	3	LAMA5	20	60891034	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3124299	60891034	2134486	242	36851											
TMPRSS15	5651	broad.mit.edu	37	chr21	19715919	19715919	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	actgtcttctccatattttgGtcattgctgatattaatgct	6	8	3	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:19715919G>C	ENST00000284885.3	-	12	1365	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	444	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCATATTTTGGTCATTGCTGA	0.308																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1330-1332)gaC>gaG		transmembrane protease, serine 15							103	93	97					21																	19715919		2202	4293	6495	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19715919G>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1332C>G	21.37:g.19715919G>C	ENSP00000284885:p.Asp444Glu						p.D444E	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			12	1365	-			444			MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1332C>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067030	0.01934	.	.	ENSG00000154646	ENST00000284885	T	0.01998	4.51	5.2	-1.59	0.08453	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.623886	0.16306	N	0.220238	T	0.01156	0.0038	N	0.17082	0.46	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.47169	-0.9138	9	.	.	.	.	1.0118	0.01498	0.2894:0.1005:0.3249:0.2853	.	444	P98073	ENTK_HUMAN	E	444	ENSP00000284885:D444E	.	D	-	3	2	TMPRSS15	18637790	0.000000	0.05858	0.917000	0.36280	0.711000	0.40976	-0.655000	0.05348	0.008000	0.14787	0.460000	0.39030	GAC		0.308	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		6	435	0	0	0	1	0	6	435					C	19715919	G	C	19715919	3	2	112	1	0	0	0	0	1	0	0	0	16298	1252	44	5	1783	5	TMPRSS15	21	19715919	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		19715919	28413976	243	36852											
UMODL1	89766	broad.mit.edu	37	chr21	43529716	43529716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggaacacgactgctcaccgGctgcctggtgcatcaacctg	11	15	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:43529716G>A	ENST00000408910.2	+	10	1564	c.1564G>A	c.(1564-1566)Gct>Act	p.A522T	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Missense_Mutation_p.A450T|UMODL1_ENST00000400424.2_Missense_Mutation_p.A450T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	522	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGCTCACCGGCTGCCTGGTG	0.627																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1348-1350)Gct>Act		uromodulin-like 1							70	83	79					21																	43529716		2051	4178	6229	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43529716G>A		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1564G>A	21.37:g.43529716G>A	ENSP00000386147:p.Ala522Thr					UMODL1_ENST00000400424.1_Missense_Mutation_p.A450T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T|UMODL1_ENST00000408910.2_Missense_Mutation_p.A522T	p.A450T	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			10	1744	+			522			SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1348G>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551127	0.13374	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.92149	-1.54;-2.98;-1.54;-2.98	3.23	1.34	0.21922	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.885950	0.03158	N	0.168966	D	0.87010	0.6071	N	0.16790	0.44	0.09310	N	1	B;B	0.32753	0.383;0.055	B;B	0.40009	0.316;0.093	T	0.77357	-0.2618	10	0.27785	T	0.31	-3.9791	5.9046	0.18986	0.2526:0.0:0.7474:0.0	.	522;522	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	450;450;522;522	ENSP00000383279:A450T;ENSP00000383276:A450T;ENSP00000386126:A522T;ENSP00000386147:A522T	ENSP00000383276:A450T	A	+	1	0	UMODL1	42402785	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	0.384000	0.20668	0.364000	0.24374	-0.150000	0.13652	GCT		0.627	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			6	637	0	0	0	1	0	6	637					A	43529716	G	A	43529716	3	1	112	1	0	0	0	0	1	0	0	0	17034	1203	42	2	1602	2	UMODL1	21	43529716	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	23813797	43529716	4600179	244	36853											
PFKL	5211	broad.mit.edu	37	chr21	45732983	45732983	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcacggactcggccctccacCgcatcatggaggtcatcgat	11	15	2	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:45732983C>T	ENST00000349048.4	+	5	605	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000403390.1_Missense_Mutation_p.R231C	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	184	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGCCCTCCACCGCATCATGGA	0.672																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(691-693)Cgc>Tgc		phosphofructokinase, liver							131	103	112					21																	45732983		2203	4300	6503	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732983C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.550C>T	21.37:g.45732983C>T	ENSP00000269848:p.Arg184Cys					PFKL_ENST00000349048.4_Missense_Mutation_p.R184C|PFKL_ENST00000496824.1_3'UTR	p.R231C			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	691	+			184					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.691C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299706	0.81136	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80738	-1.41;-1.41	4.77	4.77	0.60923	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92671	0.6150	10	0.87932	D	0	-34.907	11.7811	0.52016	0.1762:0.8238:0.0:0.0	.	184;231	P17858;P17858-2	K6PL_HUMAN;.	C	184;234;231	ENSP00000269848:R184C;ENSP00000384038:R231C	ENSP00000269848:R184C	R	+	1	0	PFKL	44557411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.217000	0.32455	2.200000	0.70718	0.491000	0.48974	CGC		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			29	535	0	0	0	1	0	29	535					T	45732983	C	T	45732983	3	4	112	1	0	0	0	0	1	0	0	0	11806	652	23	1	568	1	PFKL	21	45732983	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2203267	45732983	2396912	245	36854											
PCBP3	54039	broad.mit.edu	37	chr21	47360016	47360016	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctggagctcagatcAaaatcgccaacgccacggaa	10	11	3	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:47360016A>C	ENST00000400314.1	+	15	1320	c.982A>C	c.(982-984)Aaa>Caa	p.K328Q	PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q|PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q|PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	328	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGCTCAGATCAAAATCGCCAA	0.522																																						ENST00000400314.1																			0				biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(982-984)Aaa>Caa		poly(rC) binding protein 3							72	79	77					21																	47360016		2106	4241	6347	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360016A>C	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.982A>C	21.37:g.47360016A>C	ENSP00000383168:p.Lys328Gln					PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q|PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q	p.K328Q			P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	15	1320	+	all_hematologic(128;0.24)		328			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.982A>C	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102102	0.76983	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.19	3.04	0.35103	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.255699	0.38778	N	0.001576	T	0.42223	0.1193	L	0.45051	1.395	0.54753	D	0.999989	D;D;D;D;P	0.89917	1.0;1.0;0.987;1.0;0.919	D;D;P;D;P	0.91635	0.999;0.998;0.805;0.995;0.73	T	0.09292	-1.0681	10	0.31617	T	0.26	-15.0996	9.4418	0.38673	0.9154:0.0:0.0846:0.0	.	318;302;327;328;308	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	Q	328;308;327;302;328;308;279;318	ENSP00000383168:K328Q;ENSP00000383165:K308Q;ENSP00000383164:K327Q;ENSP00000383163:K302Q;ENSP00000401198:K328Q;ENSP00000383160:K279Q;ENSP00000383159:K318Q	ENSP00000330225:K308Q	K	+	1	0	PCBP3	46184444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.536000	0.90627	0.670000	0.31165	0.448000	0.29417	AAA		0.522	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			53	388	0	0	0	1	0	53	388					C	47360016	A	C	47360016	3	2	112	1	0	0	0	0	1	0	0	0	11544	131	5	4	1032	4	PCBP3	21	47360016	Missense_Mutation	SNP	A	TCGA-US-A776-01A-13D-A33T-08	1627033	47360016	769879	246	36855											
CLTCL1	8218	broad.mit.edu	37	chr22	19196594	19196594	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcaaactcatatgcccGgtccaggtttccaatgtgct	8	14	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:19196594G>A	ENST00000263200.10	-	21	3352	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W|CLTCL1_ENST00000442042.2_5'Flank	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1094	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)					TCATATGCCCGGTCCAGGTTT	0.498			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"clathrin, heavy polypeptide-like 1"			L	?		ALCL		0				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						c.(3280-3282)Cgg>Tgg		clathrin, heavy chain-like 1							59	61	60					22																	19196594		2017	4214	6231	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19196594G>A		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.3280C>T	22.37:g.19196594G>A	ENSP00000445677:p.Arg1094Trp					CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W	p.R1094W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			21	3352	-	Colorectal(54;0.0993)		1094			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3280C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128893	0.56721	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21543	2.0;2.0;2.0	4.0	2.97	0.34412	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.55386	0.1917	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.982	T	0.67154	-0.5742	10	0.87932	D	0	-7.0273	12.2682	0.54691	0.0:0.0:0.8092:0.1907	.	1094;1094	P53675-2;P53675	.;CLH2_HUMAN	W	1094	ENSP00000439662:R1094W;ENSP00000445677:R1094W;ENSP00000441158:R1094W	ENSP00000445677:R1094W	R	-	1	2	CLTCL1	17576594	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	5.690000	0.68241	0.812000	0.34326	0.655000	0.94253	CGG		0.498	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	53	0	0	0	1	0	3	53					A	19196594	G	A	19196594	3	1	112	1	0	0	0	0	1	0	0	0	3576	1115	39	1	1690	1	CLTCL1	22	19196594	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		19196594	32107972	247	36856											
AIFM3	150209	broad.mit.edu	37	chr22	21332002	21332002	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcaggtgcagtgcccgcCacaggcttcctgaggcaaag	13	13	1	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:21332002C>T	ENST00000399167.2	+	15	1536	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.A432A|AIFM3_ENST00000405089.1_Silent_p.A438A|AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000399163.2_Silent_p.A432A	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	432					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTGCCCGCCACAGGCTTCC	0.622																																						ENST00000399167.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1294-1296)gcC>gcT		apoptosis-inducing factor, mitochondrion-associated, 3							75	70	72					22																	21332002		2203	4300	6503	SO:0001819	synonymous_variant	150209							g.chr22:21332002C>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1296C>T	22.37:g.21332002C>T						AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.A432A|AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000405089.1_Silent_p.A438A	p.A432A	NM_144704.2	NP_653305.1			LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1536	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1296C>T	CCDS13786.1																																																																																				0.622	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		7	457	0	0	0	1	0	7	457					T	21332002	C	T	21332002	2	4	112	1	0	0	0	0	0	0	0	1	428	581	21	2		2	AIFM3	22	21332002	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	2135408	21332002	29972564	248	36857											
GGT1	2678	broad.mit.edu	37	chr22	25016461	25016461	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctggaaaacaagcggacCgtcatcgagcagcagcctgt	12	13	1	0			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:25016461C>T	ENST00000400382.1	+	8	1304	c.549C>T	c.(547-549)acC>acT	p.T183T	GGT1_ENST00000400383.1_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000248923.4_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400380.1_Silent_p.T183T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	183					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACAAGCGGACCGTCATCGAGC	0.677																																						ENST00000400382.1																			0				breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(547-549)acC>acT		gamma-glutamyltransferase 1	Glutathione(DB00143)						22	25	24					22																	25016461		1899	4082	5981	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25016461C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.549C>T	22.37:g.25016461C>T						GGT1_ENST00000400383.1_Silent_p.T183T|GGT1_ENST00000400380.1_Silent_p.T183T|GGT1_ENST00000406383.2_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Silent_p.T183T	p.T183T			P19440	GGT1_HUMAN			8	1304	+			183					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.549C>T	CCDS42992.1																																																																																				0.677	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		5	404	0	0	0	1	0	5	404					T	25016461	C	T	25016461	2	4	112	1	0	0	0	0	0	0	0	1	6390	639	23	1		1	GGT1	22	25016461	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	3684459	25016461	26288105	249	36858											
IL3RA	3563	broad.mit.edu	37	chrX	1471384	1471384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacagataagtttgtcGtcttttcacagattggtgag	10	8	2	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:1471384G>A	ENST00000331035.4	+	6	950	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	201					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		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)	TAAGTTTGTCGTCTTTTCACA	0.582																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(601-603)Gtc>Atc		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						192	186	188					X																	1471384		2203	4296	6499	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471384G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.601G>A	X.37:g.1471384G>A	ENSP00000327890:p.Val201Ile					IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	p.V201I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			6	950	+		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)	201					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.601G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.067	-1.210561	0.01555	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	D;D;D	0.83419	-1.72;-1.72;-1.72	1.75	-3.5	0.04710	Interleukin-6 receptor alpha chain, binding (1);	3.183580	0.01689	U	0.026593	T	0.68805	0.3041	N	0.22421	0.69	0.09310	N	1	P;P	0.48998	0.899;0.918	B;B	0.39706	0.145;0.307	T	0.64045	-0.6499	10	0.36615	T	0.2	-17.4739	3.4193	0.07388	0.1745:0.0:0.3307:0.4948	.	122;201	P26951-2;P26951	.;IL3RA_HUMAN	I	201;123;123	ENSP00000327890:V201I;ENSP00000414867:V123I;ENSP00000370878:V123I	ENSP00000327890:V201I	V	+	1	0	IL3RA	1431384	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-1.457000	0.02374	-2.153000	0.00793	-1.271000	0.01417	GTC		0.582	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			22	279	0	0	0	1	0	22	279					A	1471384	G	A	1471384	3	1	112	1	0	0	0	0	1	0	0	0	7725	1145	40	1	619	1	IL3RA	23	1471384	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08		1471384	153799176	250	36859											
WWC3	55841	broad.mit.edu	37	chrX	10090710	10090710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggagaggagggcacgccGcatctccgcatgtctgtcgg	16	11	2	1	rs139403054	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10090710G>A	ENST00000380861.4	+	12	2073	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	561					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						AGGGCACGCCGCATCTCCGCA	0.522													G|||	2	0.000529801	0.0	0.0014	3775	,	,		13130	0.001		0.0	False		,,,				2504	0.0					ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1681-1683)cGc>cAc		WWC family member 3		G	HIS/ARG	1,3834		0,1,0,1631,571	274	248	257		1682	3	0	X	dbSNP_134	257	3,6725		0,1,2,2427,1870	yes	missense	WWC3	NM_015691.3	29	0,2,2,4058,2441	AA,AG,A,GG,G		0.0446,0.0261,0.0379	probably-damaging	561/1093	10090710	4,10559	2203	4300	6503	SO:0001583	missense	55841							g.chrX:10090710G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1682G>A	X.37:g.10090710G>A	ENSP00000370242:p.Arg561His					WWC3_ENST00000454666.1_Missense_Mutation_p.R561H	p.R561H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			12	2073	+			561					A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	c.1682G>A	CCDS14136.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.51	2.854240	0.51270	2.61E-4	4.46E-4	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.16897	2.31;2.31	4.73	2.95	0.34219	.	0.180568	0.48767	N	0.000178	T	0.38427	0.1040	M	0.76574	2.34	0.42547	D	0.993098	D	0.89917	1.0	D	0.83275	0.996	T	0.06391	-1.0829	9	.	.	.	-3.4228	10.5601	0.45140	0.1632:0.0:0.8368:0.0	.	561	Q9ULE0	WWC3_HUMAN	H	561;561;56	ENSP00000370242:R561H;ENSP00000399584:R561H	.	R	+	2	0	WWC3	10050710	1.000000	0.71417	0.009000	0.14445	0.539000	0.34962	4.037000	0.57311	0.302000	0.22762	0.600000	0.82982	CGC		0.522	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		9	1294	0	0	0	1	0	9	1294					A	10090710	G	A	10090710	3	1	112	1	0	0	0	0	1	0	0	0	17467	1087	38	1	1724	1	WWC3	23	10090710	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	8619326	10090710	145179850	251	36860											
WWC3	55841	broad.mit.edu	37	chrX	10094325	10094325	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgttcagtgactccGcagctgcaggaagaactgct	12	10	1	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10094325G>A	ENST00000380861.4	+	15	2476	c.2085G>A	c.(2083-2085)ccG>ccA	p.P695P	WWC3_ENST00000454666.1_Silent_p.P695P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	695	C2.				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						CAGTGACTCCGCAGCTGCAGG	0.537																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(2083-2085)ccG>ccA		WWC family member 3							92	75	81					X																	10094325		2203	4300	6503	SO:0001819	synonymous_variant	55841							g.chrX:10094325G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2085G>A	X.37:g.10094325G>A						WWC3_ENST00000454666.1_Silent_p.P695P	p.P695P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			15	2476	+			695			C2.		A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	c.2085G>A	CCDS14136.1																																																																																				0.537	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		42	331	0	0	0	1	0	42	331					A	10094325	G	A	10094325	2	1	112	1	0	0	0	0	0	0	0	1	17467	1074	38	1		1	WWC3	23	10094325	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	3615	10094325	145176235	252	36861											
KLHL34	257240	broad.mit.edu	37	chrX	21675080	21675080	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgggtctgggggctcCggatgctggtctgctcgccc	17	12	2	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:21675080C>T	ENST00000379499.2	-	1	1368	c.827G>A	c.(826-828)cGg>cAg	p.R276Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	276						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTGGGGGCTCCGGATGCTGGT	0.706																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(826-828)cGg>cAg		kelch-like family member 34							14	16	16					X																	21675080		2197	4278	6475	SO:0001583	missense	257240							g.chrX:21675080C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.827G>A	X.37:g.21675080C>T	ENSP00000368813:p.Arg276Gln						p.R276Q	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1368	-			276						Missense_Mutation	SNP	ENST00000379499.2	37	c.827G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453847	0.63290	.	.	ENSG00000185915	ENST00000379499	T	0.78126	-1.15	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	M	0.71206	2.165	0.58432	D	0.999999	D	0.63046	0.992	P	0.51266	0.664	D	0.86073	0.1539	10	0.87932	D	0	.	17.0104	0.86405	0.0:1.0:0.0:0.0	.	276	Q8N239	KLH34_HUMAN	Q	276	ENSP00000368813:R276Q	ENSP00000368813:R276Q	R	-	2	0	KLHL34	21585001	1.000000	0.71417	0.977000	0.42913	0.136000	0.21042	7.323000	0.79105	2.194000	0.70268	0.422000	0.28245	CGG		0.706	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		13	115	0	0	0	1	0	13	115					T	21675080	C	T	21675080	3	4	112	1	0	0	0	0	1	0	0	0	8417	652	23	1	1111	1	KLHL34	23	21675080	Missense_Mutation	SNP	C	TCGA-US-A776-01A-13D-A33T-08	11580755	21675080	133595480	253	36862											
GAGE2A	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT													gttggcgaggaagatcgaccINStatcggcctagaccaagacg					rs372553636		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		16	168						16	168	---	---	---	---	TAT	49208296	-	TAT	49208295	7	5	112	1	0	1	1	0	0	0	0	0	6217	668	24	0	236	0	GAGE2A	23	49208295	In_Frame_Ins	INS	-	TCGA-US-A776-01A-13D-A33T-08	27533215	49208295	106062265	254	36863											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	19	5	1	2	rs143435240		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		4	170	0	0	0	1	0	4	170					A	51076024	G	A	51076024	2	1	112	1	0	0	0	0	0	0	0	1	10768	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1867729	51076024	104194536	255	36864											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-													tgttcatccagactggcgttCtcctcctcctcctcgctctc							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					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						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	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.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		15	486						15	486	---	---	---	---	-	54011407	CTC	-	54011405	7	5	112	1	0	1	0	1	0	0	0	0	11882	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-US-A776-01A-13D-A33T-08	2935381	54011405	101259155	256	36865											
TAF7L	54457	broad.mit.edu	37	chrX	100547881	100547881	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaatctgggtgccttcgtcGccagcaatgtcggcgctgct	14	12	1	0	rs375889071		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:100547881G>A	ENST00000372907.3	-	1	164	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	51					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						TGCCTTCGTCGCCAGCAATGT	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				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						c.(151-153)ggC>ggT		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa		G		0,3835		0,0,0,1632,571	147	143	144		153	-5.8	0	X		144	3,6725		0,2,1,2426,1871	no	coding-synonymous	TAF7L	NM_024885.3		0,2,1,4058,2442	AA,AG,A,GG,G		0.0446,0.0,0.0284		51/463	100547881	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547881G>A	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.153C>T	X.37:g.100547881G>A						TAF7L_ENST00000372905.2_5'UTR	p.G51G	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			1	164	-			51					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.153C>T	CCDS35347.1																																																																																				0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			189	426	0	0	0	1	0	189	426					A	100547881	G	A	100547881	2	1	112	1	0	0	0	0	0	0	0	1	15585	1074	38	1		1	TAF7L	23	100547881	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	46536476	100547881	54722679	257	36866											
ATP1B4	23439	broad.mit.edu	37	chrX	119509336	119509336	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggcctgccaatttaagcgCtccttcctaaagaactgctc	7	13	0	1			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119509336C>T	ENST00000218008.3	+	5	729	c.672C>T	c.(670-672)cgC>cgT	p.R224R	ATP1B4_ENST00000361319.3_Silent_p.R220R|ATP1B4_ENST00000539306.1_Silent_p.R181R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	224					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						AATTTAAGCGCTCCTTCCTAA	0.478																																						ENST00000218008.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(670-672)cgC>cgT		ATPase, Na+/K+ transporting, beta 4 polypeptide							163	143	150					X																	119509336		2203	4300	6503	SO:0001819	synonymous_variant	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509336C>T	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.672C>T	X.37:g.119509336C>T						ATP1B4_ENST00000539306.1_Silent_p.R181R|ATP1B4_ENST00000361319.3_Silent_p.R220R	p.R224R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			5	729	+			224					Q17RR0|Q9UN41	Silent	SNP	ENST00000218008.3	37	c.672C>T	CCDS48158.1																																																																																				0.478	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		150	260	0	0	0	1	0	150	260					T	119509336	C	T	119509336	2	4	112	1	0	0	0	0	0	0	0	1	1136	784	28	2		2	ATP1B4	23	119509336	Silent	SNP	C	TCGA-US-A776-01A-13D-A33T-08	18961455	119509336	35761224	258	36867											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		12	237						12	237	---	---	---	---	-	119694119	GAG	-	119694117	7	5	112	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-US-A776-01A-13D-A33T-08	184781	119694117	35576443	259	36868											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-													cctctccagattcctgtgagCtcctcctcctcctcctccac					rs372076984|rs144357389		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)agc>ag		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994639_140994641delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1449_1451delCTC	X.37:g.140994648_140994650delCTC	ENSP00000285879:p.Ser489del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1735_1737	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1449_1451delCTC	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	875						8	875	---	---	---	---	-	140994641	CTC	-	140994639	7	5	112	1	0	1	0	1	0	0	0	0	9221	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-US-A776-01A-13D-A33T-08	21300522	140994639	14275921	260	36869											
SPANXN3	139067	broad.mit.edu	37	chrX	142605149	142605149	+	Frame_Shift_Del	DEL	T	T	-													ctgacaatcttacctcatcaTtttttttgttattggattca							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:142605149delT	ENST00000370503.2	-	1	154	c.71delA	c.(70-72)aatfs	p.N24fs	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	24										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.453																																						ENST00000370503.2																			0				endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14						c.(70-72)atfs		SPANX family, member N3							221	189	200					X																	142605149		2203	4300	6503	SO:0001589	frameshift_variant	139067							g.chrX:142605149delT		CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.71delA	X.37:g.142605149delT	ENSP00000359534:p.Asn24fs						p.N24fs	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN			1	154	-	Acute lymphoblastic leukemia(192;6.56e-05)		24					Q0ZNK4	Frame_Shift_Del	DEL	ENST00000370503.2	37	c.71delA	CCDS35418.1																																																																																				0.453	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609		9	413						9	413	---	---	---	---	-	142605149	T	-	142605149	7	5	112	1	0	1	0	1	0	0	0	0	15044	1493	52	0	362	0	SPANXN3	23	142605149	Frame_Shift_Del	DEL	T	TCGA-US-A776-01A-13D-A33T-08	1610510	142605149	12665411	261	36870											
MAGEA8	4107	broad.mit.edu	37	chrX	149013926	149013926	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagtcctggagcatgtgGtcagggtcaatgcaagagtt	14	6	2	2			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:149013926G>A	ENST00000542674.1	+	3	1401	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	MAGEA8_ENST00000535454.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	294	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)					GGAGCATGTGGTCAGGGTCAA	0.572																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(880-882)Gtc>Atc		melanoma antigen family A, 8							123	115	117					X																	149013926		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013926G>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.880G>A	X.37:g.149013926G>A	ENSP00000443776:p.Val294Ile					MAGEA8_ENST00000542674.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I	p.V294I	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1429	+	Acute lymphoblastic leukemia(192;6.56e-05)		294			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.880G>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	3.209	-0.162021	0.06502	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.01629	4.72;4.72;4.72	1.0	-2.01	0.07410	.	1.351960	0.04740	N	0.422606	T	0.01254	0.0041	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	10	0.62326	D	0.03	.	1.746	0.02962	0.257:0.0:0.4215:0.3215	.	294	P43361	MAGA8_HUMAN	I	294	ENSP00000438293:V294I;ENSP00000443776:V294I;ENSP00000286482:V294I	ENSP00000286482:V294I	V	+	1	0	MAGEA8	148774584	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.569000	0.05902	-0.838000	0.04218	-1.043000	0.02367	GTC		0.572	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		82	415	0	0	0	1	0	82	415					A	149013926	G	A	149013926	3	1	112	1	0	0	0	0	1	0	0	0	9210	1261	44	2	882	2	MAGEA8	23	149013926	Missense_Mutation	SNP	G	TCGA-US-A776-01A-13D-A33T-08	6408777	149013926	6256634	262	36871											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	24	0	0	3			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	190	0	0	0	1	0	4	190					A	150156360	G	A	150156360	2	1	112	1	0	0	0	0	0	0	0	1	7257	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-US-A776-01A-13D-A33T-08	1142434	150156360	5114200	263	36872											
ZNF185	7739	broad.mit.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-													gctctacatcaggggacaccGaggaggaggaggaggaggag							TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000370270.2_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_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|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																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	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	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	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					ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		8	107						8	107	---	---	---	---	-	152087572	GAG	-	152087570	7	5	112	1	0	1	0	1	0	0	0	0	17805	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-US-A776-01A-13D-A33T-08	1931210	152087570	3182990	264	36873											
AJAP1	55966	broad.mit.edu	37	chr1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-													acggaagacaactgtggccgCcaccaccaccaccaccacca					rs141981296	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	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																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	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					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		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)	2	1034_1036	+	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)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		9	129						9	129	---	---	---	---	-	4772585	CCA	-	4772583	7	5	113	1	0	1	0	1	0	0	0	0	438	739	26	0	659	0	AJAP1	1	4772583	In_Frame_Del	DEL	CCA	TCGA-US-A779-01A-11D-A32N-08		4772583	244478038	1	36874											
IL22RA1	58985	broad.mit.edu	37	chr1	24447351	24447351	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagagaatccagttctgTgggctgctccaggtctgagg	14	8	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:24447351T>C	ENST00000270800.1	-	7	1707	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	557					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)		TCCAGTTCTGTGGGCTGCTCC	0.607																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1669-1671)Aca>Gca		interleukin 22 receptor, alpha 1							54	60	58					1																	24447351		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24447351T>C	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1669A>G	1.37:g.24447351T>C	ENSP00000270800:p.Thr557Ala						p.T557A	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	7	1707	-		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)	557					A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.1669A>G	CCDS247.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954597	0.34471	.	.	ENSG00000142677	ENST00000270800	T	0.11385	2.78	4.97	-9.84	0.00479	.	2.787690	0.01292	N	0.010041	T	0.07052	0.0179	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.23511	-1.0186	10	0.41790	T	0.15	11.0103	8.4218	0.32705	0.1227:0.5662:0.0:0.3111	.	489;557	B4E2V9;Q8N6P7	.;I22R1_HUMAN	A	557	ENSP00000270800:T557A	ENSP00000270800:T557A	T	-	1	0	IL22RA1	24319938	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	-2.028000	0.01431	-1.664000	0.01479	0.529000	0.55759	ACA		0.607	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			94	307	0	0	0	1	0	94	307					C	24447351	T	C	24447351	3	2	113	1	0	0	0	0	1	0	0	0	7703	1696	59	4	59	4	IL22RA1	1	24447351	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	19674768	24447351	224803270	2	36875											
B4GALT2	8704	broad.mit.edu	37	chr1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-													atgccctccacccagctgctAgcagcagcagcagcagcagc					rs149892509		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	418						7	418	---	---	---	---	-	44447009	AGC	-	44447007	7	5	113	1	0	1	0	1	0	0	0	0	1272	420	15	0	177	0	B4GALT2	1	44447007	In_Frame_Del	DEL	AGC	TCGA-US-A779-01A-11D-A32N-08	19999656	44447007	204803614	3	36876											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		8	267						8	267	---	---	---	---	-	77334279	GCA	-	77334277	7	5	113	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-US-A779-01A-11D-A32N-08	32887270	77334277	171916344	4	36877											
CELSR2	1952	broad.mit.edu	37	chr1	109806332	109806332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctcagcctcatgttccGcacgcgccaggccgacggtg	12	16	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:109806332G>A	ENST00000271332.3	+	9	4995	c.4934G>A	c.(4933-4935)cGc>cAc	p.R1645H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1645	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCATGTTCCGCACGCGCCAG	0.662											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(4933-4935)cGc>cAc		cadherin, EGF LAG seven-pass G-type receptor 2							74	72	73					1																	109806332		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806332G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4934G>A	1.37:g.109806332G>A	ENSP00000271332:p.Arg1645His		OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.R1645H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	9	4995	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1645			Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4934G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924399	0.92319	.	.	ENSG00000143126	ENST00000271332	T	0.74737	-0.87	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86297	0.5899	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87909	0.2696	9	0.87932	D	0	.	18.3881	0.90473	0.0:0.0:1.0:0.0	.	1645	Q9HCU4	CELR2_HUMAN	H	1645	ENSP00000271332:R1645H	ENSP00000271332:R1645H	R	+	2	0	CELSR2	109607855	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.156000	0.94705	2.686000	0.91538	0.561000	0.74099	CGC		0.662	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	524	0	0	0	1	0	6	524					A	109806332	G	A	109806332	3	1	113	1	0	0	0	0	1	0	0	0	3231	1087	38	1	4968	1	CELSR2	1	109806332	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	32472055	109806332	139444289	5	36878											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	8	18	4	0	rs113946258	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	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)			TCTCTTCTCCGGTTCCTCTCT	0.592																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3472-3474)cCg>cGg		trichohyalin							71	70	70					1																	152082220		1986	4171	6157	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082220G>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3473C>G	1.37:g.152082220G>C	ENSP00000357794:p.Pro1158Arg						p.P1158R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3472	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1158			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3473C>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	1.340	-0.594289	0.03771	.	.	ENSG00000159450	ENST00000368804	T	0.04603	3.59	1.86	-3.72	0.04411	.	.	.	.	.	T	0.00412	0.0013	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45716	-0.9242	9	0.16420	T	0.52	.	1.558	0.02589	0.2814:0.2588:0.3346:0.1252	.	1158	Q07283	TRHY_HUMAN	R	1158	ENSP00000357794:P1158R	ENSP00000357794:P1158R	P	-	2	0	TCHH	150348844	0.000000	0.05858	0.024000	0.17045	0.006000	0.05464	-6.257000	0.00073	-1.230000	0.02561	-1.439000	0.01073	CCG		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	348	0	0	0	1	0	8	348					C	152082220	G	C	152082220	3	2	113	1	0	0	0	0	1	0	0	0	15752	1116	39	5	2362	5	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	42275888	152082220	97168401	6	36879											
POU2F1	5451	broad.mit.edu	37	chr1	167343484	167343484	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccatctccgcctctgctgCcacgcccatgacgcagatcc	7	20	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:167343484C>A	ENST00000541643.3	+	7	635	c.473C>A	c.(472-474)gCc>gAc	p.A158D	POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000367862.5_Missense_Mutation_p.A170D|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	158					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						GCCTCTGCTGCCACGCCCATG	0.617																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(508-510)gCc>gAc		POU class 2 homeobox 1							26	26	26					1																	167343484		2203	4299	6502	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167343484C>A	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.473C>A	1.37:g.167343484C>A	ENSP00000441285:p.Ala158Asp					POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.A158D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D	p.A170D	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			6	744	+			158					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.509C>A		.	.	.	.	.	.	.	.	.	.	C	37	6.377326	0.97520	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.77	5.77	0.91146	.	0.167697	0.37530	N	0.002053	D	0.84188	0.5417	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.85130	0.991;0.996;0.997;0.99	D	0.84611	0.0678	10	0.72032	D	0.01	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	158;170;156;158	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	D	181;158;35;156;158;158;170;66	ENSP00000356840:A181D;ENSP00000391523:A158D;ENSP00000356839:A156D;ENSP00000414660:A158D;ENSP00000441285:A158D;ENSP00000356836:A170D;ENSP00000415993:A66D	ENSP00000356836:A170D	A	+	2	0	POU2F1	165610108	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.453000	0.80700	2.732000	0.93576	0.650000	0.86243	GCC		0.617	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		5	167	1	0	1	1	1	5	167					A	167343484	C	A	167343484	3	1	113	1	0	0	0	0	1	0	0	0	12313	739	26	3	491	3	POU2F1	1	167343484	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	15261264	167343484	81907137	7	36880											
CFH	3075	broad.mit.edu	37	chr1	196714957	196714957	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttagattctacaggAaaatgtgggccccctccacc	8	11	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:196714957A>C	ENST00000367429.4	+	21	3561	c.3321A>C	c.(3319-3321)ggA>ggC	p.G1107G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19. {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						ATTCTACAGGAAAATGTGGGC	0.398																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3319-3321)ggA>ggC		complement factor H							160	152	155					1																	196714957		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196714957A>C	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.3321A>C	1.37:g.196714957A>C							p.G1107G	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			21	3561	+			1107			Sushi 19.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3321A>C	CCDS1385.1																																																																																				0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		138	417	0	0	0	1	0	138	417					C	196714957	A	C	196714957	2	2	113	1	0	0	0	0	0	0	0	1	3292	233	9	4		4	CFH	1	196714957	Silent	SNP	A	TCGA-US-A779-01A-11D-A32N-08	29371473	196714957	52535664	8	36881											
SUSD4	55061	broad.mit.edu	37	chr1	223465880	223465880	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgcccttcagcttgaatcCgtcttggcagtgaaatcggg	12	11	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:223465880C>T	ENST00000343846.3	-	2	895	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	88	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)		AGCTTGAATCCGTCTTGGCAG	0.512																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(262-264)Gga>Aga		sushi domain containing 4							119	124	122					1																	223465880		2203	4300	6503	SO:0001583	missense	55061					integral to membrane		g.chr1:223465880C>T	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.262G>A	1.37:g.223465880C>T	ENSP00000344219:p.Gly88Arg					SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R	p.G88R			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	895	-			88			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	c.262G>A	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685607	0.88639	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.76709	-1.04;-1.04;-1.04	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.46442	D	0.000285	D	0.88742	0.6519	M	0.78344	2.41	0.80722	D	1	D;P	0.89917	1.0;0.952	D;B	0.97110	1.0;0.411	D	0.89846	0.4006	10	0.87932	D	0	-7.532	19.0844	0.93198	0.0:1.0:0.0:0.0	.	88;88	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	R	88	ENSP00000344219:G88R;ENSP00000355843:G88R;ENSP00000339926:G88R	ENSP00000271787:G88R	G	-	1	0	SUSD4	221532503	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.685000	0.68204	2.506000	0.84524	0.561000	0.74099	GGA		0.512	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		135	427	0	0	0	1	0	135	427					T	223465880	C	T	223465880	3	4	113	1	0	0	0	0	1	0	0	0	15462	661	23	1	1391	1	SUSD4	1	223465880	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	26750923	223465880	25784741	9	36882											
SLC5A6	8884	broad.mit.edu	37	chr2	27427649	27427685	+	Splice_Site	DEL	CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	-													gctccactcccttcctgtccCtgcactcacagcacagcagc					rs200982480|rs151071040		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:27427649_27427685delCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	ENST00000310574.3	-	8	1322_1349	c.849_876delTTCCCGCACGGAGAAGGCTGCTGTGCTGTGAGTGCAG	c.(847-876)agttcccgcacggagaaggctgctgtgctg>ag	p.SSRTEKAAVL283fs	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Splice_Site_p.SSRTEKAAVL283fs	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	283					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.T286M(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CTTCCTGTCCCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAACTGAGGTACC	0.591																																						ENST00000310574.3																			1	Substitution - Missense(1)	p.T286M(1)	large_intestine(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.e8+1		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)																																			SO:0001630	splice_region_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27427649_27427685delCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.875+1TTCCCGCACGGAGAAGGCTGCTGTGCTGTGAGTGCAG>-	2.37:g.27427649_27427685delCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA						SLC5A6_ENST00000408041.1_Splice_Site_p.283_splice	p.283_splice	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN			8	1322_1349	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		283					B2RB85|D6W549|Q969Y5	Splice_Site	DEL	ENST00000310574.3	37	c.875_splice	CCDS1740.1																																																																																				0.591	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095	Frame_Shift_Del	10	207						10	207	---	---	---	---	-	27427685	CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	-	27427649	8	5	113	1	0	1	0	1	0	0	1	0	14719	696	24	0		0	SLC5A6	2	27427649	Splice_Site	DEL	CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA	TCGA-US-A779-01A-11D-A32N-08		27427649	215771724	10	36883											
DHX57	90957	broad.mit.edu	37	chr2	39095411	39095413	+	In_Frame_Del	DEL	CCA	CCA	-													cctttctgttgccgccacctCcaccaccaccaccaccgcca					rs199521315|rs372484063|rs199910361	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:39095411_39095413delCCA	ENST00000295373.6	-	2	261_263	c.135_137delTGG	c.(133-138)ggtgga>gga	p.45_46GG>G	DHX57_ENST00000479345.2_5'Flank	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	45	Gly-rich.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				Gccgccacctccaccaccaccac	0.532														22	0.00439297	0.0159	0.0014	5008	,	,		13864	0.0		0.0	False		,,,				2504	0.0				Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(133-138)gga>gg		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57																																				SO:0001651	inframe_deletion	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39095411_39095413delCCA	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.135_137delTGG	2.37:g.39095420_39095422delCCA	ENSP00000295373:p.Gly49del						p.GG47del	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			2	261_263	-		all_hematologic(82;0.248)	47			Gly-rich.		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	In_Frame_Del	DEL	ENST00000295373.6	37	c.135_137delTGG	CCDS1800.1																																																																																				0.532	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		7	480						7	480	---	---	---	---	-	39095413	CCA	-	39095411	7	5	113	1	0	1	0	1	0	0	0	0	4529	855	30	0	4115	0	DHX57	2	39095411	In_Frame_Del	DEL	CCA	TCGA-US-A779-01A-11D-A32N-08	11667762	39095411	204103962	11	36884											
VPS24	51652	broad.mit.edu	37	chr2	86732976	86732978	+	In_Frame_Del	DEL	TCC	TCC	-													gcatggcctccagagcctctTcctcctcctcctcatcctct							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:86732976_86732978delTCC	ENST00000263856.4	-	6	746_748	c.618_620delGGA	c.(616-621)gaggaa>gaa	p.206_207EE>E	CHMP3_ENST00000494623.1_5'Flank|CHMP3_ENST00000439940.2_In_Frame_Del_p.235_236EE>E|CHMP3_ENST00000409225.2_In_Frame_Del_p.140_141EE>E|CHMP3_ENST00000409727.1_In_Frame_Del_p.166_167EE>E|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.235_236EE>E	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	206	Interaction with STAMBP.|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)											CAGAGCCTCTTCCTCCTCCTCCT	0.616																																						ENST00000263856.4																			0											c.(616-621)gaa>ga		charged multivesicular body protein 3																																				SO:0001651	inframe_deletion	51652							g.chr2:86732976_86732978delTCC	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.618_620delGGA	2.37:g.86732985_86732987delTCC	ENSP00000263856:p.Glu208del					CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del|CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del	p.EE206del	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					6	746_748	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	In_Frame_Del	DEL	ENST00000263856.4	37	c.618_620delGGA	CCDS33236.1																																																																																				0.616	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		7	388						7	388	---	---	---	---	-	86732978	TCC	-	86732976	7	5	113	1	0	1	0	1	0	0	0	0	17249	1783	62	0	52	0	VPS24	2	86732976	In_Frame_Del	DEL	TCC	TCGA-US-A779-01A-11D-A32N-08	47637565	86732976	156466397	12	36885											
ADRA2B	151	broad.mit.edu	37	chr2	96780765	96780765	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accagcagagcacaaaaacgCcaatgaccacagccagcacg	8	15	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:96780765C>T	ENST00000409345.3	-	1	1219	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	375					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACAAAAACGCCAATGACCAC	0.622																																						ENST00000409345.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16						c.(1123-1125)gGc>gAc		adrenoceptor alpha 2B	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						51	58	56					2																	96780765		2197	4292	6489	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780765C>T	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1124G>A	2.37:g.96780765C>T	ENSP00000387281:p.Gly375Asp						p.G375D	NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN			1	1219	-			378					Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.1124G>A	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308310	0.81247	.	.	ENSG00000222040	ENST00000409345	T	0.38560	1.13	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.81346	0.4803	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89685	0.3893	9	0.87932	D	0	.	17.1963	0.86893	0.0:1.0:0.0:0.0	.	378	P18089	ADA2B_HUMAN	D	375	ENSP00000387281:G375D	ENSP00000387281:G375D	G	-	2	0	ADRA2B	96144492	1.000000	0.71417	0.421000	0.26609	0.650000	0.38633	7.810000	0.86072	2.658000	0.90341	0.551000	0.68910	GGC		0.622	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			27	85	0	0	0	1	0	27	85					T	96780765	C	T	96780765	3	4	113	1	0	0	0	0	1	0	0	0	338	739	26	2	223	2	ADRA2B	2	96780765	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	10047789	96780765	146418608	13	36886											
SEMA4C	54910	broad.mit.edu	37	chr2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaagacactgtcttacgcgGcacaaggttccaccacacct	8	14	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:97533539G>A	ENST00000305476.5	-	2	217	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	29					cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(85-87)Ccg>Tcg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							165	149	155					2																	97533539		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97533539G>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.85C>T	2.37:g.97533539G>A	ENSP00000306844:p.Pro29Ser						p.P29S	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			2	217	-			29					Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.85C>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312270	0.81358	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.59638	1.43;0.25;0.25	4.3	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (1);	0.285799	0.25277	N	0.031836	T	0.62097	0.2400	N	0.24115	0.695	0.38811	D	0.955416	D	0.89917	1.0	D	0.97110	1.0	T	0.67968	-0.5533	10	0.87932	D	0	.	12.123	0.53902	0.0:0.0:1.0:0.0	.	29	Q9C0C4	SEM4C_HUMAN	S	29	ENSP00000306844:P29S;ENSP00000393498:P29S;ENSP00000391094:P29S	ENSP00000306844:P29S	P	-	1	0	SEMA4C	96897266	0.004000	0.15560	1.000000	0.80357	0.838000	0.47535	0.611000	0.24268	2.224000	0.72417	0.491000	0.48974	CCG		0.642	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		6	877	0	0	0	1	0	6	877					A	97533539	G	A	97533539	3	1	113	1	0	0	0	0	1	0	0	0	14083	1203	42	2	2472	2	SEMA4C	2	97533539	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	752774	97533539	145665834	14	36887											
RBMS1	5937	broad.mit.edu	37	chr2	161159916	161159916	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaataacttgtccaaatggtTtgagcatattttctagttct	6	6	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:161159916T>C	ENST00000348849.3	-	5	915	c.485A>G	c.(484-486)aAa>aGa	p.K162R	RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	162	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				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)								TCCAAATGGTTTGAGCATATT	0.413																																						ENST00000348849.3																		PLA2R1/RBMS1(2)	0											c.(484-486)aAa>aGa		RNA binding motif, single stranded interacting protein 1							155	136	142					2																	161159916		2203	4300	6503	SO:0001583	missense	5937				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding	g.chr2:161159916T>C	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.485A>G	2.37:g.161159916T>C	ENSP00000294904:p.Lys162Arg					RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR	p.K162R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN			5	915	-			162			RRM 2.		Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Missense_Mutation	SNP	ENST00000348849.3	37	c.485A>G	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291114	0.80914	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25144	0.715	0.80722	D	1	B;B;B;P;B;B;B	0.51449	0.004;0.118;0.009;0.945;0.128;0.002;0.008	B;B;B;D;B;B;B	0.71870	0.02;0.275;0.07;0.975;0.179;0.044;0.131	T	0.04360	-1.0957	10	0.54805	T	0.06	.	15.9541	0.79871	0.0:0.0:0.0:1.0	.	129;28;162;162;28;129;162	D3DPB2;Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;.;RBMS1_HUMAN;.;.;.;.	R	162;129;129;162;129	ENSP00000294904:K162R;ENSP00000386347:K129R;ENSP00000386571:K129R;ENSP00000376508:K162R;ENSP00000387280:K129R	ENSP00000294904:K162R	K	-	2	0	RBMS1	160868162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.163000	0.67991	0.533000	0.62120	AAA		0.413	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255043.4	NM_016836		50	294	0	0	0	1	0	50	294					C	161159916	T	C	161159916	3	2	113	1	0	0	0	0	1	0	0	0	13198	1841	64	4	771	4	RBMS1	2	161159916	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	63626377	161159916	82039457	15	36888											
PPP1R1C	151242	broad.mit.edu	37	chr2	182850872	182850872	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaaaagatacagtttgCcgtgcctgtattccagagtc	8	11	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:182850872C>T	ENST00000409137.3	+	1	278	c.35C>T	c.(34-36)gCc>gTc	p.A12V	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	12					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATACAGTTTGCCGTGCCTGTA	0.448																																						ENST00000409137.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6						c.(34-36)gCc>gTc		protein phosphatase 1, regulatory (inhibitor) subunit 1C							150	144	146					2																	182850872		2010	4183	6193	SO:0001583	missense	151242				signal transduction	cytoplasm	protein phosphatase inhibitor activity	g.chr2:182850872C>T	AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.35C>T	2.37:g.182850872C>T	ENSP00000386359:p.Ala12Val					PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V	p.A12V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0628)		1	278	+			12					Q5HYJ5|Q8TD54	Missense_Mutation	SNP	ENST00000409137.3	37	c.35C>T	CCDS46468.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558951	0.86231	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.87	5.87	0.94306	.	0.053176	0.85682	D	0.000000	T	0.49304	0.1549	M	0.69823	2.125	0.58432	D	0.99999	P;P	0.48503	0.911;0.834	P;P	0.50896	0.642;0.653	T	0.46857	-0.9161	10	0.72032	D	0.01	-13.2258	20.5827	0.99408	0.0:1.0:0.0:0.0	.	12;12	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	V	12	ENSP00000399602:A12V;ENSP00000386359:A12V;ENSP00000280295:A12V;ENSP00000386778:A12V	ENSP00000280295:A12V	A	+	2	0	PPP1R1C	182559117	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.971000	0.70440	2.941000	0.99782	0.655000	0.94253	GCC		0.448	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334874.1	NM_001080545		6	466	0	0	0	1	0	6	466					T	182850872	C	T	182850872	3	4	113	1	0	0	0	0	1	0	0	0	12416	739	26	2	37	2	PPP1R1C	2	182850872	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	21690956	182850872	60348501	16	36889											
CCDC108	255101	broad.mit.edu	37	chr2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-													tcgaagaagaactcggtcatGggggggatataagggtactg					rs532323836		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:219892687delG	ENST00000341552.5	-	13	1979	c.1896delC	c.(1894-1896)cccfs	p.P632fs	CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	632						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)		ACTCGGTCATGGGGGGGATAT	0.597																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1894-1896)ccfs		coiled-coil domain containing 108							58	65	63					2																	219892687		2196	4286	6482	SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892687delG	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.1896delC	2.37:g.219892687delG	ENSP00000340776:p.Pro632fs					CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs	p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1979	-		Renal(207;0.0915)	632					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.1896delC	CCDS2430.2																																																																																				0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	670						7	670	---	---	---	---	-	219892687	G	-	219892687	7	5	113	1	0	1	0	1	0	0	0	0	2750	1335	47	0	3973	0	CCDC108	2	219892687	Frame_Shift_Del	DEL	G	TCGA-US-A779-01A-11D-A32N-08	37041815	219892687	23306686	17	36890											
UGT1A9	54600	broad.mit.edu	37	chr2	234580748	234580748	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggggcatgaggtggtTgtagtcatgccagaggtgag	18	6	2	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:234580748T>C	ENST00000354728.4	+	1	250	c.168T>C	c.(166-168)gtT>gtC	p.V56V	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Silent_p.V56V|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	56					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.V56V(1)		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)	ATGAGGTGGTTGTAGTCATGC	0.532																																						ENST00000354728.4																			1	Substitution - coding silent(1)	p.V56V(1)	kidney(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37						c.(166-168)gtT>gtC									100	85	90					2																	234580748		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234580748T>C	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.168T>C	2.37:g.234580748T>C						UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	p.V56V	NM_021027.2	NP_066307.1				Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	250	+		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)						B8K285|P36509|Q9HAX0	Silent	SNP	ENST00000354728.4	37	c.168T>C	CCDS2505.1																																																																																				0.532	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		6	375	0	0	0	1	0	6	375					C	234580748	T	C	234580748	2	2	113	1	0	0	0	0	0	0	0	1	17006	1799	63	4		4	UGT1A9	2	234580748	Silent	SNP	T	TCGA-US-A779-01A-11D-A32N-08	14688061	234580748	8618625	18	36891											
MTERFD2	130916	broad.mit.edu	37	chr2	242035431	242035431	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctattcctcctcgtcgtcGtcctcatcctcatcattgtc	5	16	3	0	rs114631297	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:242035431G>A	ENST00000391980.2	-	4	1186	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.D188D|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		376					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCtcgtcgtcgtcctcatcct	0.483													g|||	2	0.000399361	0.0	0.0	5008	,	,		21620	0.002		0.0	False		,,,				2504	0.0					ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(1126-1128)gaC>gaT		MTERF domain containing 2							351	259	290					2																	242035431		2203	4300	6503	SO:0001819	synonymous_variant	130916							g.chr2:242035431G>A																												ENST00000391980.2:c.1128C>T	2.37:g.242035431G>A						MTERFD2_ENST00000488567.1_5'UTR|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.D188D	p.D376D	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	4	1186	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	376					A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	c.1128C>T	CCDS2544.1																																																																																				0.483	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			5	458	0	0	0	1	0	5	458					A	242035431	G	A	242035431	2	1	113	1	0	0	0	0	0	0	0	1	9961	1136	40	1		1	MTERFD2	2	242035431	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	7454683	242035431	1163942	19	36892											
VGLL4	9686	broad.mit.edu	37	chr3	11643423	11643423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgattgggggagggccGgtgcggtgactgctgagggc	23	7	0	3	rs151086238	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:11643423G>A	ENST00000430365.2	-	2	561	c.156C>T	c.(154-156)acC>acT	p.T52T	VGLL4_ENST00000480288.1_5'Flank|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000273038.3_Silent_p.T46T|VGLL4_ENST00000413604.1_5'UTR	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	46					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592													G|||	4	0.000798722	0.003	0.0	5008	,	,		13377	0.0		0.0	False		,,,				2504	0.0					ENST00000273038.3																			0				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(136-138)acC>acT		vestigial like 4 (Drosophila)		G	,	21,4385	28.1+/-56.4	0,21,2182	79	77	78		156,138	-10.7	0	3	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VGLL4	NM_001128219.1,NM_014667.2	,	0,22,6481	AA,AG,GG		0.0116,0.4766,0.1692	,	52/297,46/291	11643423	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11643423G>A	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"vestigial like 4 (Drosophila)"			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.156C>T	3.37:g.11643423G>A						VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000430365.2_Silent_p.T52T|VGLL4_ENST00000404339.1_Silent_p.T51T	p.T46T	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	3	503	-			46					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Silent	SNP	ENST00000430365.2	37	c.138C>T	CCDS46754.1																																																																																				0.592	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		6	466	0	0	0	1	0	6	466					A	11643423	G	A	11643423	2	1	113	1	0	0	0	0	0	0	0	1	17215	1103	39	1		1	VGLL4	3	11643423	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08		11643423	186379007	20	36893											
RFTN1	23180	broad.mit.edu	37	chr3	16475456	16475456	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtgcagggccgccagCgagaagccctgctggtacag	17	11	0	1	rs144679139		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:16475456C>T	ENST00000334133.4	-	3	506	c.234G>A	c.(232-234)tcG>tcA	p.S78S	RFTN1_ENST00000432519.1_Silent_p.S42S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	78					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGCCGCCAGCGAGAAGCCCT	0.647																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(232-234)tcG>tcA		raftlin, lipid raft linker 1							50	56	54					3																	16475456		2203	4300	6503	SO:0001819	synonymous_variant	23180					plasma membrane		g.chr3:16475456C>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.234G>A	3.37:g.16475456C>T						RFTN1_ENST00000432519.1_Silent_p.S42S	p.S78S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			3	506	-			78					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	37	c.234G>A	CCDS33712.1																																																																																				0.647	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		13	501	0	0	0	1	0	13	501					T	16475456	C	T	16475456	2	4	113	1	0	0	0	0	0	0	0	1	13308	755	27	1		1	RFTN1	3	16475456	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	4832033	16475456	181546974	21	36894											
PLCD1	5333	broad.mit.edu	37	chr3	38049624	38049624	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcacaactacctcaaacGcaaactccgtgtcccaccat	5	17	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:38049624G>A	ENST00000334661.4	-	14	2288	c.2066C>T	c.(2065-2067)gCg>gTg	p.A689V	PLCD1_ENST00000463876.1_Missense_Mutation_p.A710V	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	689	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TACCTCAAACGCAAACTCCGT	0.557																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(2128-2130)gCg>gTg		phospholipase C, delta 1							120	115	117					3																	38049624		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38049624G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.2066C>T	3.37:g.38049624G>A	ENSP00000335600:p.Ala689Val					PLCD1_ENST00000334661.4_Missense_Mutation_p.A689V	p.A710V	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	14	2482	-			689			C2.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.2129C>T	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866463	0.17250	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	5.15	4.0	0.46444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.475525	0.25677	N	0.029024	T	0.31702	0.0805	N	0.00525	-1.395	0.22648	N	0.998895	B;B	0.12013	0.005;0.003	B;B	0.08055	0.001;0.003	T	0.21143	-1.0254	10	0.23302	T	0.38	.	11.6796	0.51451	0.0:0.0:0.2929:0.7071	.	689;710	P51178;B3KR14	PLCD1_HUMAN;.	V	710;689	ENSP00000430344:A710V;ENSP00000335600:A689V	ENSP00000335600:A689V	A	-	2	0	PLCD1	38024628	0.000000	0.05858	0.989000	0.46669	0.071000	0.16799	0.102000	0.15272	0.932000	0.37266	-0.397000	0.06425	GCG		0.557	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			5	434	0	0	0	1	0	5	434					A	38049624	G	A	38049624	3	1	113	1	0	0	0	0	1	0	0	0	12073	1087	38	1	212	1	PLCD1	3	38049624	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	21574168	38049624	159972806	22	36895											
FBXW12	285231	broad.mit.edu	37	chr3	48436086	48436086	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttagggtgaggaaagtaagtGactccagcattctggtgatg	14	5	1	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:48436086G>A	ENST00000296438.5	+	11	1543	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N|FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	453										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)		GAAAGTAAGTGACTCCAGCAT	0.358																																						ENST00000296438.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1357-1359)Gac>Aac		F-box and WD repeat domain containing 12							155	144	148					3																	48436086		2203	4300	6503	SO:0001583	missense	285231							g.chr3:48436086G>A	AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1357G>A	3.37:g.48436086G>A	ENSP00000296438:p.Asp453Asn					FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000468158.1_Intron	p.D453N	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	1543	+			453					E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	ENST00000296438.5	37	c.1357G>A	CCDS2764.1	.	.	.	.	.	.	.	.	.	.	G	3.756	-0.050498	0.07407	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170;ENST00000415155	T;T;T;T	0.29397	1.99;1.58;1.57;1.58	3.33	-4.85	0.03142	.	2.083830	0.03331	N	0.193337	T	0.11793	0.0287	N	0.08118	0	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;0.0;0.0	T	0.11108	-1.0601	10	0.16420	T	0.52	-4.1095	0.9617	0.01397	0.3501:0.2821:0.2252:0.1426	.	352;434;383;453	E9PCA2;E9PG36;Q494Z0;Q6X9E4	.;.;.;FBW12_HUMAN	N	352;453;296;434;383	ENSP00000296438:D453N;ENSP00000413866:D296N;ENSP00000406139:D434N;ENSP00000414683:D383N	ENSP00000296438:D453N	D	+	1	0	FBXW12	48411090	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.732000	0.04904	-1.208000	0.02634	-0.282000	0.10007	GAC		0.358	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257505.1	NM_207102		5	387	0	0	0	1	0	5	387					A	48436086	G	A	48436086	3	1	113	1	0	0	0	0	1	0	0	0	5790	1290	45	2	1432	2	FBXW12	3	48436086	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	10386462	48436086	149586344	23	36896											
MST1	327	broad.mit.edu	37	chr3	49723112	49723112	+	IGR	DEL	T	T	-													catggctatccccatctgggTtccggcagaagttctcctcc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43	42	43					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			9	292						9	292	---	---	---	---	-	49723112	T	-	49723112	6	5	113	0	1	1	0	1	0	0	0	0	9931	1725	60	0		0	MST1	3	49723112	IGR	DEL	T	TCGA-US-A779-01A-11D-A32N-08	1287026	49723112	148299318	24	36897											
PARP3	10039	broad.mit.edu	37	chr3	51978150	51978152	+	In_Frame_Del	DEL	AAC	AAC	-													tgaaccagaccaacatcgagAacaacaacaacaagttctac							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:51978150_51978152delAAC	ENST00000417220.2	+	4	717_719	c.229_231delAAC	c.(229-231)aacdel	p.N80del	PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del|RRP9_ENST00000232888.6_5'Flank			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	80				N -> K (in Ref. 2; AAD29855). {ECO:0000305}.	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)		CAACATCGAGAACAACAACAACA	0.596																																						ENST00000417220.2																			0				ovary(1)	1						c.(229-231)del		poly (ADP-ribose) polymerase family, member 3			,	10,3992		5,0,1996					,	-7.6	0			201	34,8036		15,4,4016	no	coding,coding	PARP3	NM_005485.4,NM_001003931.2	,	20,4,6012	A1A1,A1R,RR		0.4213,0.2499,0.3645	,	,		44,12028				SO:0001651	inframe_deletion	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978150_51978152delAAC	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.229_231delAAC	3.37:g.51978159_51978161delAAC	ENSP00000395951:p.Asn80del					PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del	p.N80del			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	717_719	+			80	N -> K (in Ref. 2; AAD29855).				Q8NER9|Q96CG2|Q9UG81	In_Frame_Del	DEL	ENST00000417220.2	37	c.229_231delAAC	CCDS43097.1																																																																																				0.596	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		7	990						7	990	---	---	---	---	-	51978152	AAC	-	51978150	7	5	113	1	0	1	0	1	0	0	0	0	11504	246	9	0	260	0	PARP3	3	51978150	In_Frame_Del	DEL	AAC	TCGA-US-A779-01A-11D-A32N-08	2255038	51978150	146044280	25	36898											
RYBP	23429	broad.mit.edu	37	chr3	72428210	72428210	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccttgaggtgtgatttgtttCgctggtctttgttgtagcat	12	6	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:72428210C>A	ENST00000477973.2	-	3	679	c.680G>T	c.(679-681)cGa>cTa	p.R227L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TGATTTGTTTCGCTGGTCTTT	0.393																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(679-681)cGa>cTa		RING1 and YY1 binding protein							188	167	173					3																	72428210		1918	4139	6057	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428210C>A	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"YY1 and E4TF1 associated factor 1", "ring1 interactor RYBP", "apoptin-associating protein 1", "death effector domain-associated factor"	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.680G>T	3.37:g.72428210C>A	ENSP00000419494:p.Arg227Leu						p.R227L	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	3	679	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.680G>T		.	.	.	.	.	.	.	.	.	.	C	21.7	4.191335	0.78902	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.65749	0.2721	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68044	-0.5513	3	.	.	.	-29.6366	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	L	227	.	.	R	-	2	0	RYBP	72510900	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	CGA		0.393	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		63	151	1	0	1.03115e-12	1	1.10227e-12	63	151					A	72428210	C	A	72428210	3	1	113	1	0	0	0	0	1	0	0	0	13816	893	31	3	279	3	RYBP	3	72428210	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	20450060	72428210	125594220	26	36899											
PDZRN3	23024	broad.mit.edu	37	chr3	73440202	73440202	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccaatgtcgtcttcatcGtccgtccggtagcacacagt	8	14	2	0	rs538722275		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:73440202G>A	ENST00000263666.4	-	6	1434	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466780.1_Silent_p.D97D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000479530.1_Silent_p.D157D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	440	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGTCTTCATCGTCCGTCCGGT	0.443																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1318-1320)gaC>gaT		PDZ domain containing ring finger 3							274	254	261					3																	73440202		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440202G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1320C>T	3.37:g.73440202G>A						PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000466780.1_Silent_p.D97D	p.D440D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	6	1434	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	440			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1320C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768692	0.15983	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	-9.21	0.00678	.	.	.	.	.	T	0.66327	0.2778	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74100	-0.3774	4	.	.	.	.	20.3542	0.98835	0.8963:0.0:0.1037:0.0	.	.	.	.	M	37	.	.	T	-	2	0	PDZRN3	73522892	0.432000	0.25554	0.086000	0.20670	0.897000	0.52465	-0.105000	0.10907	-1.917000	0.01074	-0.880000	0.02959	ACG		0.443	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		27	835	0	0	0	1	0	27	835					A	73440202	G	A	73440202	2	1	113	1	0	0	0	0	0	0	0	1	11751	1136	40	1		1	PDZRN3	3	73440202	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1011992	73440202	124582228	27	36900											
FILIP1L	11259	broad.mit.edu	37	chr3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-													ctgttttcttgttgatttagTtttttttgcaggactgagtg							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:99568273delT	ENST00000354552.3	-	5	2717	c.2247delA	c.(2245-2247)aaafs	p.K749fs	FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000331335.5_Frame_Shift_Del_p.K749fs|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						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						GTTGATTTAGTTTTTTTTGCA	0.403																																						ENST00000331335.5																			0				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						c.(2245-2247)aafs		filamin A interacting protein 1-like							166	147	153					3																	99568273		1847	4097	5944	SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568273delT		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.2247delA	3.37:g.99568273delT	ENSP00000346560:p.Lys749fs					FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K749fs|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|CMSS1_ENST00000496116.1_Intron	p.K749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Del	DEL	ENST00000354552.3	37	c.2247delA	CCDS43117.1																																																																																				0.403	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		8	607						8	607	---	---	---	---	-	99568273	T	-	99568273	7	5	113	1	0	1	0	1	0	0	0	0	5920	1722	60	0	1189	0	FILIP1L	3	99568273	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08	26128071	99568273	98454157	28	36901											
ZNF148	7707	broad.mit.edu	37	chr3	124953158	124953158	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcataccacattcatcacagCgaaatggtttttcacctagc	5	12	4	0	rs376674595		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:124953158C>T	ENST00000360647.4	-	8	1168	c.683G>A	c.(682-684)cGc>cAc	p.R228H	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	228					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCATCACAGCGAAATGGTTT	0.294																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(682-684)cGc>cAc		zinc finger protein 148		C	HIS/ARG	0,4406		0,0,2203	100	101	101		683	3.5	1	3		101	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZNF148	NM_021964.2	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	228/795	124953158	1,12999	2203	4297	6500	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953158C>T	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.683G>A	3.37:g.124953158C>T	ENSP00000353863:p.Arg228His					ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H	p.R228H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			8	1168	-			228					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.683G>A	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738426	0.30774	0.0	1.16E-4	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.32	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048859	0.85682	D	0.000000	T	0.13243	0.0321	L	0.35644	1.08	0.29133	N	0.879492	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.08027	-1.0742	10	0.44086	T	0.13	0.0288	9.7899	0.40699	0.0:0.786:0.0:0.214	.	36;228	G5E9X2;Q9UQR1	.;ZN148_HUMAN	H	228;36;228;23;228;228;228	ENSP00000353863:R228H;ENSP00000420102:R36H;ENSP00000420335:R228H;ENSP00000437916:R23H;ENSP00000419322:R228H;ENSP00000420448:R228H	ENSP00000353863:R228H	R	-	2	0	ZNF148	126435848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.648000	0.46647	1.474000	0.48178	0.650000	0.86243	CGC		0.294	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		58	288	0	0	0	1	0	58	288					T	124953158	C	T	124953158	3	4	113	1	0	0	0	0	1	0	0	0	17787	768	27	1	1709	1	ZNF148	3	124953158	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	25384885	124953158	73069272	29	36902											
RGS12	6002	broad.mit.edu	37	chr4	3318330	3318330	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaaatgcagtctggtGgaattttcaatatgattttt	11	3	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:3318330G>A	ENST00000344733.5	+	2	1337	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RGS12_ENST00000336727.3_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R|RGS12_ENST00000382788.3_Missense_Mutation_p.G145R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	145					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)		GCAGTCTGGTGGAATTTTCAA	0.468																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(433-435)Gga>Aga		regulator of G-protein signaling 12							59	65	63					4																	3318330		2203	4299	6502	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318330G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.433G>A	4.37:g.3318330G>A	ENSP00000339381:p.Gly145Arg					RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000344733.5_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R	p.G145R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1337	+			145					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.433G>A	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196311	0.78902	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.37058	1.22;1.27;1.28;1.28	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.987;0.995	T	0.67960	-0.5535	10	0.72032	D	0.01	-22.7391	16.6763	0.85280	0.0:0.0:1.0:0.0	.	145;145;145	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	145	ENSP00000440566:G145R;ENSP00000339381:G145R;ENSP00000338509:G145R;ENSP00000372238:G145R	ENSP00000338509:G145R	G	+	1	0	RGS12	3288128	1.000000	0.71417	0.077000	0.20336	0.902000	0.53008	7.324000	0.79115	2.176000	0.68965	0.491000	0.48974	GGA		0.468	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		104	284	0	0	0	1	0	104	284					A	3318330	G	A	3318330	3	1	113	1	0	0	0	0	1	0	0	0	13345	1349	47	2	435	2	RGS12	4	3318330	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		3318330	187835946	30	36903											
PPP2R2C	5522	broad.mit.edu	37	chr4	6380234	6380234	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgagatagtcaaactcCggctcgtggctctggaaagt	11	10	3	1	rs147944662	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:6380234C>T	ENST00000382599.4	-	3	450	c.234G>A	c.(232-234)ccG>ccA	p.P78P	PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000335585.5_Silent_p.P78P			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	78					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGTCAAACTCCGGCTCGTGGC	0.572																																						ENST00000335585.5																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(232-234)ccG>ccA		protein phosphatase 2, regulatory subunit B, gamma		C	,,,	3,4403	6.2+/-15.9	0,3,2200	145	136	139		213,213,183,234	-9.3	0	4	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,,,	71/441,71/441,61/431,78/448	6380234	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6380234C>T	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9306	protein-coding gene	gene with protein product	"PP2A subunit B isoform gamma"	605997	"protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.234G>A	4.37:g.6380234C>T						PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000382599.4_Silent_p.P78P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000507294.1_Silent_p.P71P	p.P78P	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN			3	257	-			78					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Silent	SNP	ENST00000382599.4	37	c.234G>A																																																																																					0.572	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876		12	600	0	0	0	1	0	12	600					T	6380234	C	T	6380234	2	4	113	1	0	0	0	0	0	0	0	1	12433	639	23	1		1	PPP2R2C	4	6380234	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	3061904	6380234	184774042	31	36904											
MMRN1	22915	broad.mit.edu	37	chr4	90872802	90872802	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgccaaaatgggggcacGtgcataaatggaagaactag	13	8	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:90872802G>A	ENST00000394980.1	+	8	3484	c.3165G>A	c.(3163-3165)acG>acA	p.T1055T	MMRN1_ENST00000508372.1_Silent_p.T797T|MMRN1_ENST00000394981.1_Silent_p.T358T|MMRN1_ENST00000264790.2_Silent_p.T1055T			Q13201	MMRN1_HUMAN	multimerin 1	1055	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGGGGGCACGTGCATAAATG	0.433																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3163-3165)acG>acA		multimerin 1							107	91	97					4																	90872802		2203	4300	6503	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872802G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3165G>A	4.37:g.90872802G>A						MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000508372.1_Silent_p.T797T|MMRN1_ENST00000394981.1_Silent_p.T358T	p.T1055T			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3484	+		Hepatocellular(203;0.114)	1055			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.3165G>A	CCDS3635.1																																																																																				0.433	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		95	177	0	0	0	1	0	95	177					A	90872802	G	A	90872802	2	1	113	1	0	0	0	0	0	0	0	1	9711	1132	40	1		1	MMRN1	4	90872802	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	84492568	90872802	100281474	32	36905											
PHF17	79960	broad.mit.edu	37	chr4	129783124	129783124	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaccgggtgagtgtccGtaagcagaagctgcagcagt	15	11	0	2	rs536855766		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:129783124G>A	ENST00000226319.6	+	9	1527	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000413543.2_Missense_Mutation_p.R416H	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						GTGAGTGTCCGTAAGCAGAAG	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		18532	0.0		0.0	False		,,,				2504	0.001					ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1246-1248)cGt>cAt									106	100	102					4																	129783124		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129783124G>A																												ENST00000226319.6:c.1247G>A	4.37:g.129783124G>A	ENSP00000226319:p.Arg416His					PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H	p.R416H	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1527	+			416						Missense_Mutation	SNP	ENST00000226319.6	37	c.1247G>A	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224990	0.58668	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.49139	0.88;0.79;0.88;0.88;0.79	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.73830	-0.3859	9	.	.	.	.	13.6817	0.62489	0.0745:0.0:0.9255:0.0	.	404;416;416	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	H	416;416;404;416;416;416	ENSP00000226319:R416H;ENSP00000423737:R416H;ENSP00000388015:R404H;ENSP00000425730:R416H;ENSP00000404211:R416H	.	R	+	2	0	PHF17	130002574	1.000000	0.71417	0.821000	0.32701	0.166000	0.22503	8.901000	0.92560	1.346000	0.45694	-0.150000	0.13652	CGT		0.607	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			6	498	0	0	0	1	0	6	498					A	129783124	G	A	129783124	3	1	113	1	0	0	0	0	1	0	0	0	11870	1145	40	1	1277	1	PHF17	4	129783124	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	38910322	129783124	61371152	33	36906											
ADAM29	11086	broad.mit.edu	37	chr4	175899048	175899048	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtcatcctcagttgaCgccttcccagagtcaacctc	7	16	3	3	rs151303907		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:175899048C>T	ENST00000359240.3	+	5	3042	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T791M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T791M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T791M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	791	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCAGTTGACGCCTTCCCAG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19281	0.0		0.0	False		,,,				2504	0.0				Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				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						c.(2371-2373)aCg>aTg		ADAM metallopeptidase domain 29							163	152	156					4																	175899048		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175899048C>T	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.2372C>T	4.37:g.175899048C>T	ENSP00000352177:p.Thr791Met					ADAM29_ENST00000514159.1_Missense_Mutation_p.T791M|ADAM29_ENST00000404450.4_Missense_Mutation_p.T791M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T791M|RP13-577H12.2_ENST00000507525.1_RNA	p.T791M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		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)	5	3042	+		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)	791			9 X 9 AA approximate repeats.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.2372C>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	c	4.842	0.156538	0.09236	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	0.515	0.515	0.17013	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.68039	0.955	T	0.53479	-0.8433	8	.	.	.	.	6.7614	0.23542	0.0:0.9999:0.0:1.0E-4	.	791	Q9UKF5	ADA29_HUMAN	M	791	ENSP00000352177:T791M;ENSP00000414544:T791M;ENSP00000384229:T791M;ENSP00000423517:T791M	.	T	+	2	0	ADAM29	176135623	0.026000	0.19158	0.088000	0.20740	0.060000	0.15804	-0.783000	0.04638	0.505000	0.28104	0.297000	0.19635	ACG		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				6	655	0	0	0	1	0	6	655					T	175899048	C	T	175899048	3	4	113	1	0	0	0	0	1	0	0	0	247	536	19	1	2374	1	ADAM29	4	175899048	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	46115924	175899048	15255228	34	36907											
CMYA5	202333	broad.mit.edu	37	chr5	79026738	79026738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actgaagaaaacaattgaccGtaagtccccgttaatattga	7	8	0	4			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:79026738G>A	ENST00000446378.2	+	2	2181	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	717					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)		ACAATTGACCGTAAGTCCCCG	0.448																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(2149-2151)cGt>cAt		cardiomyopathy associated 5							84	79	81					5																	79026738		1924	4138	6062	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026738G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2150G>A	5.37:g.79026738G>A	ENSP00000394770:p.Arg717His						p.R717H	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	2181	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	717					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.2150G>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	g	8.935	0.964478	0.18583	.	.	ENSG00000164309	ENST00000446378	T	0.46451	0.87	5.56	-11.1	0.00147	.	1.948280	0.02137	N	0.056869	T	0.08179	0.0204	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.30078	T	0.28	.	1.3491	0.02169	0.16:0.331:0.2504:0.2586	.	717	Q8N3K9	CMYA5_HUMAN	H	717	ENSP00000394770:R717H	ENSP00000394770:R717H	R	+	2	0	CMYA5	79062494	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.582000	0.02117	-2.338000	0.00627	-1.007000	0.02485	CGT		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		4	197	0	0	0	1	0	4	197					A	79026738	G	A	79026738	3	1	113	1	0	0	0	0	1	0	0	0	3599	1145	40	1	2156	1	CMYA5	5	79026738	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		79026738	101888522	35	36908											
NR2F1	7025	broad.mit.edu	37	chr5	92921011	92921011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcggggacaagtcgagCggcaagcactacggccaatt	15	10	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:92921011C>T	ENST00000327111.3	+	1	1969	c.282C>T	c.(280-282)agC>agT	p.S94S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	94					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACAAGTCGAGCGGCAAGCACT	0.642																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(280-282)agC>agT		nuclear receptor subfamily 2, group F, member 1							30	27	28					5																	92921011		2203	4300	6503	SO:0001819	synonymous_variant	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92921011C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"Nuclear hormone receptors"	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.282C>T	5.37:g.92921011C>T						NR2F1-AS1_ENST00000513055.1_RNA	p.S94S	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	1	1969	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	94						Silent	SNP	ENST00000327111.3	37	c.282C>T	CCDS4068.1																																																																																				0.642	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		4	51	0	0	0	1	0	4	51					T	92921011	C	T	92921011	2	4	113	1	0	0	0	0	0	0	0	1	10669	767	27	1		1	NR2F1	5	92921011	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	13894273	92921011	87994249	36	36909											
EGR1	1958	broad.mit.edu	37	chr5	137801684	137801686	+	In_Frame_Del	DEL	CAG	CAG	-													ggcggcgggggcggcagcaaCagcagcagcagcagcagcac							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:137801684_137801686delCAG	ENST00000239938.4	+	1	506_508	c.234_236delCAG	c.(232-237)aacagc>aac	p.S84del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	84	Gly/Ser-rich.				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)			gcggcagcaacagcagcagcagc	0.724																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(232-237)aac>aa		early growth response 1				12,237,3657		1,0,10,41,155,1746						-8.4	0.3		dbSNP_132	11	4,434,7198		1,0,2,72,290,3453	no	codingComplex	EGR1	NM_001964.2		2,0,12,113,445,5199	A1A1,A1A2,A1R,A2A2,A2R,RR		5.736,6.3748,5.9522				16,671,10855				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801684_137801686delCAG	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.234_236delCAG	5.37:g.137801693_137801695delCAG	ENSP00000239938:p.Ser84del						p.NS78del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	506_508	+			78			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.234_236delCAG	CCDS4206.1																																																																																				0.724	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		7	81						7	81	---	---	---	---	-	137801686	CAG	-	137801684	7	5	113	1	0	1	0	1	0	0	0	0	4987	477	17	0	236	0	EGR1	5	137801684	In_Frame_Del	DEL	CAG	TCGA-US-A779-01A-11D-A32N-08	44880673	137801684	43113576	37	36910											
ZNF184	7738	broad.mit.edu	37	chr6	27420760	27420760	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gagatggttcttgtgttacaAggtttgaactcacattgaca	10	6	2	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:27420760A>T	ENST00000211936.6	-	6	862	c.578T>A	c.(577-579)cTt>cAt	p.L193H	ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	193					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						TTGTGTTACAAGGTTTGAACT	0.368																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(577-579)cTt>cAt		zinc finger protein 184							230	228	229					6																	27420760		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420760A>T	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.578T>A	6.37:g.27420760A>T	ENSP00000211936:p.Leu193His					ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	862	-			193					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.578T>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222112	0.58560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.08370	3.1;3.1	5.32	0.257	0.15574	.	0.879076	0.09630	N	0.776357	T	0.06371	0.0164	M	0.91300	3.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.54805	T	0.06	.	7.6793	0.28505	0.642:0.0:0.358:0.0	.	193	Q99676	ZN184_HUMAN	H	193	ENSP00000211936:L193H;ENSP00000366636:L193H	ENSP00000211936:L193H	L	-	2	0	ZNF184	27528739	0.003000	0.15002	0.002000	0.10522	0.577000	0.36160	1.919000	0.40015	0.147000	0.19030	0.454000	0.30748	CTT		0.368	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		73	566	0	0	0	1	0	73	566					T	27420760	A	T	27420760	3	4	113	1	0	0	0	0	1	0	0	0	17804	72	3	5	1681	5	ZNF184	6	27420760	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08		27420760	143694307	38	36911											
CYP21A2	1590	broad.mit.edu	37	chr6	31975223	31975224	+	5'Flank	INS	-	-	T													caccctctcctgggccgtggINSttttttttgcttcaccaccc					rs369404825		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:31975223_31975224insT	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTGGGCCGTGGTTTTTTTTGCT	0.614																																						ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975223_31975224insT																													6.37:g.31975231_31975231dupT	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1346_1347	+									RNA	INS	ENST00000594256.1	37																																																																																						0.614	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				8	840						8	840	---	---	---	---	T	31975224	-	T	31975223	6	5	113	0	1	1	1	0	0	0	0	0	4164	1261	44	0		0	CYP21A2	6	31975223	5'Flank	INS	-	TCGA-US-A779-01A-11D-A32N-08	4554463	31975223	139139844	39	36912											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	9	8	0	1	rs377381152		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(607-609)Gca>Aca		iodotyrosine deiodinase		A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150715311G>A	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr					IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	4	747	+		Ovarian(120;0.028)	203					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.607G>A	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA		0.433	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		5	299	0	0	0	1	0	5	299					A	150715311	G	A	150715311	3	1	113	1	0	0	0	0	1	0	0	0	7962	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	118740088	150715311	20399756	40	36913											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC													ctcccgccggagccgccgctINSggggtgggtgccgggcctgg					rs3837151|rs3779607	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389			S -> G (in dbSNP:rs3779607). {ECO:0000269|PubMed:15489334}.		germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1165-1170)ccgcgg>ccGGCgcgg		transmembrane protein 184A				1912,2170		535,842,664						-3.6	0		dbSNP_132	17	3872,4214		1028,1816,1199	no	coding	TMEM184A	NM_001097620.1		1563,2658,1863	A1A1,A1R,RR		47.8852,46.8398,47.5345				5784,6384				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586662_1586663insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1167_1168insGGC	7.37:g.1586662_1586663insGCC	ENSP00000297477:p.Pro389_Ser390insGly						p.389_390PR>PAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1483_1484	-		Ovarian(82;0.0253)	389					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1167_1168insGGC	CCDS43537.1																																																																																				0.703	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		8	186						8	186	---	---	---	---	GCC	1586663	-	GCC	1586662	7	5	113	1	0	1	1	0	0	0	0	0	16156	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08		1586662	157552001	41	36914											
VWC2	375567	broad.mit.edu	37	chr7	49815696	49815696	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaactactgcgagttccgggGcaagacctatcagactttgg	12	10	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:49815696G>A	ENST00000340652.4	+	2	1221	c.665G>A	c.(664-666)gGc>gAc	p.G222D		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	222	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGTTCCGGGGCAAGACCTAT	0.617																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(664-666)gGc>gAc		von Willebrand factor C domain containing 2							18	23	21					7																	49815696		2095	4222	6317	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49815696G>A	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.665G>A	7.37:g.49815696G>A	ENSP00000341819:p.Gly222Asp						p.G222D	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			2	1221	+			222			VWFC 2.		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.665G>A	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334557	0.81801	.	.	ENSG00000188730	ENST00000340652	T	0.72615	-0.67	4.84	3.95	0.45737	von Willebrand factor, type C (3);	0.062437	0.64402	D	0.000006	T	0.78641	0.4315	M	0.66939	2.045	0.53005	D	0.999969	P	0.47962	0.903	P	0.57502	0.822	T	0.80425	-0.1388	10	0.59425	D	0.04	.	12.8246	0.57712	0.0796:0.0:0.9204:0.0	.	222	Q2TAL6	VWC2_HUMAN	D	222	ENSP00000341819:G222D	ENSP00000341819:G222D	G	+	2	0	VWC2	49786242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.650000	0.74368	2.383000	0.81215	0.561000	0.74099	GGC		0.617	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		7	19	0	0	0	1	0	7	19					A	49815696	G	A	49815696	3	1	113	1	0	0	0	0	1	0	0	0	17297	1203	42	2	667	2	VWC2	7	49815696	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	48229034	49815696	109322967	42	36915											
WBSCR17	64409	broad.mit.edu	37	chr7	70853388	70853388	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggatgacaacagcgacgaagGtacaggggtggctgacctgt	16	8	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:70853388G>T	ENST00000333538.5	+	3	1223		c.e3+1		WBSCR17_ENST00000498380.2_Splice_Site	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17						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)				AGCGACGAAGGTACAGGGGTG	0.582																																						ENST00000333538.5																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.e3+1		Williams-Beuren syndrome chromosome region 17							104	75	85					7																	70853388		2203	4300	6503	SO:0001630	splice_region_variant	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70853388G>T	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.589+1G>T	7.37:g.70853388G>T						WBSCR17_ENST00000498380.2_Splice_Site		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN			3	1223	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)						Q8NFV9|Q9NTA8	Splice_Site	SNP	ENST00000333538.5	37		CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379837	0.42207	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBSCR17	70491324	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.588000	0.98232	2.782000	0.95742	0.655000	0.94253	.		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	Intron	5	213	1	0	1.024e-07	1	1.07347e-07	5	213					T	70853388	G	T	70853388	5	4	113	1	0	0	0	0	0	0	1	0	17318	1275	44	3	600	3	WBSCR17	7	70853388	Splice_Site	SNP	G	TCGA-US-A779-01A-11D-A32N-08	21037692	70853388	88285275	43	36916											
SEMA3D	223117	broad.mit.edu	37	chr7	84642125	84642125	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcccagcactgggtgaTtgggtcgccatattttacat	11	9	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:84642125T>C	ENST00000284136.6	-	15	1784	c.1741A>G	c.(1741-1743)Atc>Gtc	p.I581V	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	581	PSI.				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						CACTGGGTGATTGGGTCGCCA	0.393																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1741-1743)Atc>Gtc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							131	120	124					7																	84642125		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84642125T>C	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.1741A>G	7.37:g.84642125T>C	ENSP00000284136:p.Ile581Val					SEMA3D_ENST00000484038.1_5'UTR	p.I581V	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			15	1784	-			581			PSI.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1741A>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	4.555	0.102996	0.08731	.	.	ENSG00000153993	ENST00000284136	T	0.20881	2.04	5.93	5.93	0.95920	.	0.228496	0.49305	D	0.000147	T	0.08935	0.0221	N	0.10733	0.035	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.15499	T	0.54	.	5.1256	0.14882	0.0:0.1083:0.1805:0.7112	.	581	O95025	SEM3D_HUMAN	V	581	ENSP00000284136:I581V	ENSP00000284136:I581V	I	-	1	0	SEMA3D	84480061	0.744000	0.28250	0.998000	0.56505	0.601000	0.36947	1.112000	0.31172	2.265000	0.75225	0.533000	0.62120	ATC		0.393	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		7	306	0	0	0	1	0	7	306					C	84642125	T	C	84642125	3	2	113	1	0	0	0	0	1	0	0	0	14077	1493	52	4	604	4	SEMA3D	7	84642125	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	13788737	84642125	74496538	44	36917											
FAM3C	10447	broad.mit.edu	37	chr7	120991269	120991269	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctctaaaaccaagattAgtaatagatgtgctccccaa	6	9	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:120991269A>T	ENST00000359943.3	-	9	735	c.522T>A	c.(520-522)acT>acA	p.T174T		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	174					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					AACCAAGATTAGTAATAGATG	0.428																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9						c.(520-522)acT>acA		family with sequence similarity 3, member C							74	71	72					7																	120991269		2203	4297	6500	SO:0001819	synonymous_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:120991269A>T	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"predicted osteoblast protein", "interleukin-like EMT inducer", "interleukin-like epithelial-mesenchymal transition inducer"	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.522T>A	7.37:g.120991269A>T							p.T174T	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN			9	735	-	all_neural(327;0.117)		174					A6NDN2|A8K3R7	Silent	SNP	ENST00000359943.3	37	c.522T>A	CCDS5782.1																																																																																				0.428	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		51	190	0	0	0	1	0	51	190					T	120991269	A	T	120991269	2	4	113	1	0	0	0	0	0	0	0	1	5583	407	15	5		5	FAM3C	7	120991269	Silent	SNP	A	TCGA-US-A779-01A-11D-A32N-08	36349144	120991269	38147394	45	36918											
EXOC4	60412	broad.mit.edu	37	chr7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-													ctggacgagagtttgcagccTtttttgccaagaagaaacct							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					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)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123	127	126					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	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.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		7	735						7	735	---	---	---	---	-	133160181	T	-	133160181	7	5	113	1	0	1	0	1	0	0	0	0	5324	1609	56	0	1312	0	EXOC4	7	133160181	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08	12168912	133160181	25978482	46	36919											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600759	147600759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcctgcggcatcgaacGcaactgcacagatcccaagt	10	13	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:147600759G>A	ENST00000361727.3	+	14	2717	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	734	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCATCGAACGCAACTGCACA	0.582										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2200-2202)cGc>cAc		contactin associated protein-like 2							77	63	68					7																	147600759		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600759G>A	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.2201G>A	7.37:g.147600759G>A	ENSP00000354778:p.Arg734His	HNSCC(39;0.1)					p.R734H	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2717	+	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)	734			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2201G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119856	0.56613	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.09723	2.95;2.95	5.7	5.7	0.88788	.	0.066576	0.64402	D	0.000013	T	0.12092	0.0294	L	0.38838	1.175	0.80722	D	1	B	0.17268	0.021	B	0.11329	0.006	T	0.05683	-1.0870	10	0.41790	T	0.15	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	734	Q9UHC6	CNTP2_HUMAN	H	734;125	ENSP00000354778:R734H;ENSP00000392208:R125H	ENSP00000354778:R734H	R	+	2	0	CNTNAP2	147231692	0.993000	0.37304	0.913000	0.36048	0.923000	0.55619	4.880000	0.63107	2.700000	0.92200	0.563000	0.77884	CGC		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			4	118	0	0	0	1	0	4	118					A	147600759	G	A	147600759	3	1	113	1	0	0	0	0	1	0	0	0	3656	1087	38	1	2255	1	CNTNAP2	7	147600759	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	14440578	147600759	11537904	47	36920											
CSMD1	64478	broad.mit.edu	37	chr8	2876088	2876088	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtagccggtgttgcacGtaaatatagctgtggcccca	13	10	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:2876088G>A	ENST00000520002.1	-	53	8498	c.7943C>T	c.(7942-7944)aCg>aTg	p.T2648M	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2648M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647M|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2648	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)		GGTGTTGCACGTAAATATAGC	0.488																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7942-7944)aCg>aTg		CUB and Sushi multiple domains 1							173	170	171					8																	2876088		1971	4153	6124	SO:0001583	missense	64478					integral to membrane		g.chr8:2876088G>A			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.7943C>T	8.37:g.2876088G>A	ENSP00000430733:p.Thr2648Met					CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2648M|CSMD1_ENST00000400186.3_Intron	p.T2648M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8498	-		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)	2648			Sushi 17.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.7943C>T		.	.	.	.	.	.	.	.	.	.	G	7.154	0.584431	0.13749	.	.	ENSG00000183117	ENST00000520002;ENST00000318252;ENST00000537824	T;T	0.66995	-0.24;-0.24	5.19	5.19	0.71726	Complement control module (2);Sushi/SCR/CCP (3);	0.071832	0.56097	D	0.000030	T	0.68751	0.3035	M	0.81614	2.55	0.41106	D	0.9857	P;B	0.39404	0.672;0.41	B;B	0.32533	0.058;0.147	T	0.76531	-0.2925	10	0.72032	D	0.01	.	19.093	0.93235	0.0:0.0:1.0:0.0	.	2648;2648	E5RIG2;Q96PZ7	.;CSMD1_HUMAN	M	2648;2509;2647	ENSP00000430733:T2648M;ENSP00000441462:T2647M	ENSP00000320445:T2509M	T	-	2	0	CSMD1	2863495	0.998000	0.40836	0.170000	0.22879	0.006000	0.05464	2.942000	0.49018	2.578000	0.87016	0.655000	0.94253	ACG		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	862	0	0	0	1	0	7	862					A	2876088	G	A	2876088	3	1	113	1	0	0	0	0	1	0	0	0	3955	1145	40	1	2830	1	CSMD1	8	2876088	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		2876088	143487934	48	36921											
BMP1	649	broad.mit.edu	37	chr8	22064900	22064900	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acgggcgagacgccaaggccCccgtcctcggccgcttctgt	13	17	1	1	rs150161793		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:22064900C>T	ENST00000306385.5	+	18	3116	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	816	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGCCAAGGCCCCCGTCCTCGG	0.627																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2446-2448)Ccc>Tcc		bone morphogenetic protein 1							73	80	78					8																	22064900		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22064900C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2446C>T	8.37:g.22064900C>T	ENSP00000305714:p.Pro816Ser					BMP1_ENST00000354870.5_3'UTR	p.P816S	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	18	3116	+			816			CUB 4.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2446C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927502	0.73327	.	.	ENSG00000168487	ENST00000306385	T	0.30182	1.54	5.26	4.38	0.52667	CUB (5);	0.412825	0.17745	U	0.163437	T	0.34193	0.0889	L	0.48986	1.54	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.08166	-1.0735	10	0.33141	T	0.24	.	14.7938	0.69863	0.0:0.8544:0.1456:0.0	.	816	P13497	BMP1_HUMAN	S	816	ENSP00000305714:P816S	ENSP00000305714:P816S	P	+	1	0	BMP1	22120845	0.989000	0.36119	0.182000	0.23118	0.911000	0.54048	4.070000	0.57548	1.204000	0.43247	0.561000	0.74099	CCC		0.627	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		125	470	0	0	0	1	0	125	470					T	22064900	C	T	22064900	3	4	113	1	0	0	0	0	1	0	0	0	1458	623	22	2	2606	2	BMP1	8	22064900	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	19188812	22064900	124299122	49	36922											
CDCA2	157313	broad.mit.edu	37	chr8	25365019	25365019	+	Frame_Shift_Del	DEL	A	A	-													agaaactgtgtcctccagacAaaaaccgcagatggcacctc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:25365019delA	ENST00000330560.3	+	15	3314	c.2837delA	c.(2836-2838)caafs	p.Q946fs	CDCA2_ENST00000380665.3_Frame_Shift_Del_p.Q931fs|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	946					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)		TCCTCCAGACAAAAACCGCAG	0.468																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(2836-2838)cafs		cell division cycle associated 2							174	191	185					8																	25365019		2203	4300	6503	SO:0001589	frameshift_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25365019delA	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.2837delA	8.37:g.25365019delA	ENSP00000328228:p.Gln946fs					CDCA2_ENST00000380665.3_Frame_Shift_Del_p.Q931fs|CDCA2_ENST00000521098.2_3'UTR	p.Q946fs	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	15	3314	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	946					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Frame_Shift_Del	DEL	ENST00000330560.3	37	c.2837delA	CCDS6049.1																																																																																				0.468	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		7	1031						7	1031	---	---	---	---	-	25365019	A	-	25365019	7	5	113	1	0	1	0	1	0	0	0	0	3095	130	5	0	2891	0	CDCA2	8	25365019	Frame_Shift_Del	DEL	A	TCGA-US-A779-01A-11D-A32N-08	3300119	25365019	120999003	50	36923											
CSMD3	114788	broad.mit.edu	37	chr8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattgaaagaaagatgtatcCggctccctggatcagagatt	10	8	1	4			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	758	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R758Q(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						AAGATGTATCCGGCTCCCTGG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.R758Q(1)	ovary(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2272-2274)cGg>cAg		CUB and Sushi multiple domains 3							99	107	104					8																	113697844		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697844C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2273G>A	8.37:g.113697844C>T	ENSP00000297405:p.Arg758Gln	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q	p.R758Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2517	-			758			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2273G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606831	0.87157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	CUB (5);	0.000000	0.64402	D	0.000002	T	0.40297	0.1111	L	0.56199	1.76	0.43145	D	0.994906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.998;0.999	T	0.00970	-1.1496	10	0.34782	T	0.22	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	654;758;718	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	718;758;98;654;758	ENSP00000345799:R718Q;ENSP00000297405:R758Q;ENSP00000341558:R98Q;ENSP00000412263:R654Q;ENSP00000343124:R758Q	ENSP00000297405:R758Q	R	-	2	0	CSMD3	113767020	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGG		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		77	355	0	0	0	1	0	77	355					T	113697844	C	T	113697844	3	4	113	1	0	0	0	0	1	0	0	0	3957	652	23	1	9078	1	CSMD3	8	113697844	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	88332825	113697844	32666178	51	36924											
RAD21	5885	broad.mit.edu	37	chr8	117869572	117869572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcttcatattctaaatGgttaattttctcattcagat	4	6	5	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:117869572G>A	ENST00000297338.2	-	6	909	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	208					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TATTCTAAATGGTTAATTTTC	0.358																																						ENST00000297338.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32						c.(622-624)Cat>Tat		RAD21 homolog (S. pombe)							147	150	149					8																	117869572		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117869572G>A	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.622C>T	8.37:g.117869572G>A	ENSP00000297338:p.His208Tyr					RAD21_ENST00000523547.1_5'UTR	p.H208Y	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN			6	909	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		208					A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.622C>T	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458476	0.63401	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.53857	0.6;1.51;1.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.62723	1.935	0.80722	D	1	D	0.54207	0.965	P	0.47827	0.558	T	0.63225	-0.6685	10	0.52906	T	0.07	-17.6597	19.717	0.96124	0.0:0.0:1.0:0.0	.	208	O60216	RAD21_HUMAN	Y	208	ENSP00000297338:H208Y;ENSP00000429342:H208Y;ENSP00000427923:H208Y	ENSP00000297338:H208Y	H	-	1	0	RAD21	117938753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.161000	0.94739	2.734000	0.93682	0.563000	0.77884	CAT		0.358	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265		58	189	0	0	0	1	0	58	189					A	117869572	G	A	117869572	3	1	113	1	0	0	0	0	1	0	0	0	13031	1348	47	2	1309	2	RAD21	8	117869572	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	4171728	117869572	28494450	52	36925											
ZFAT	57623	broad.mit.edu	37	chr8	135614834	135614834	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtcctgtgggtcatgCgcgtctcggatgtgcttgat	13	9	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					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)			GTGGGTCATGCGCGTCTCGGA	0.552																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1090-1092)gcG>gcA		zinc finger and AT hook domain containing							74	75	74					8																	135614834		2114	4240	6354	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614834C>T	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.1128G>A	8.37:g.135614834C>T						ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A	p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1391	-	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)		376					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1092G>A	CCDS47924.1																																																																																				0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		7	648	0	0	0	1	0	7	648					T	135614834	C	T	135614834	2	4	113	1	0	0	0	0	0	0	0	1	17685	755	27	1		1	ZFAT	8	135614834	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	17745262	135614834	10749188	53	36926											
ZC3H3	23144	broad.mit.edu	37	chr8	144620690	144620690	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcctgaggccggtctggCggggccccccactgagccag	17	15	1	2	rs374453895		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:144620690C>T	ENST00000262577.5	-	2	878	c.847G>A	c.(847-849)Gcc>Acc	p.A283T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	283					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)			GCCGGTCTGGCGGGGCCCCCC	0.617																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(847-849)Gcc>Acc		zinc finger CCCH-type containing 3		C	THR/ALA	0,4406		0,0,2203	46	55	52		847	3.4	0	8		52	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZC3H3	NM_015117.2	58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	283/949	144620690	1,12999	2203	4297	6500	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620690C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.847G>A	8.37:g.144620690C>T	ENSP00000262577:p.Ala283Thr						p.A283T	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	878	-	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)		283					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.847G>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327034	0.10900	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.02863	4.13	5.25	3.44	0.39384	.	1.396000	0.04407	N	0.365298	T	0.02848	0.0085	L	0.44542	1.39	0.09310	N	1	P	0.41710	0.76	B	0.29862	0.108	T	0.43972	-0.9358	10	0.38643	T	0.18	-6.3777	3.3926	0.07294	0.1411:0.5762:0.1364:0.1464	.	283	Q8IXZ2	ZC3H3_HUMAN	T	283	ENSP00000262577:A283T	ENSP00000262577:A283T	A	-	1	0	ZC3H3	144691833	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.254000	0.08781	0.596000	0.29794	-0.126000	0.14955	GCC		0.617	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		6	772	0	0	0	1	0	6	772					T	144620690	C	T	144620690	3	4	113	1	0	0	0	0	1	0	0	0	17622	768	27	1	2043	1	ZC3H3	8	144620690	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	9005856	144620690	1743332	54	36927											
FAM102A	399665	broad.mit.edu	37	chr9	130712784	130712784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggagcccgagcccGcaaactcggccaggttcaag	13	15	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:130712784G>A	ENST00000373095.1	-	4	707	c.332C>T	c.(331-333)gCg>gTg	p.A111V	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	111										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGAGCCCGCAAACTCGGC	0.632																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(331-333)gCg>gTg		family with sequence similarity 102, member A							103	90	94					9																	130712784		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130712784G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.332C>T	9.37:g.130712784G>A	ENSP00000362187:p.Ala111Val					FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	p.A111V	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			4	707	-			111					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.332C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943040	0.73672	.	.	ENSG00000167106	ENST00000373095	T	0.44881	0.91	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71974	-0.4430	10	0.19147	T	0.46	-8.445	17.1174	0.86692	0.0:0.0:1.0:0.0	.	111	Q5T9C2	F102A_HUMAN	V	111	ENSP00000362187:A111V	ENSP00000362187:A111V	A	-	2	0	FAM102A	129752605	1.000000	0.71417	0.187000	0.23214	0.100000	0.18952	9.758000	0.98927	2.362000	0.80069	0.462000	0.41574	GCG		0.632	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			7	383	0	0	0	1	0	7	383					A	130712784	G	A	130712784	3	1	113	1	0	0	0	0	1	0	0	0	5403	1087	38	1	854	1	FAM102A	9	130712784	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		130712784	10500647	55	36928											
ZMYND19	116225	broad.mit.edu	37	chr9	140481542	140481542	+	Frame_Shift_Del	DEL	C	C	-													cctggaagcccggggccacgCccccccggtgccgctcccta							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr9:140481542delC	ENST00000298585.2	-	4	462	c.236delG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		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)		CGGGGCCACGCCCCCCCGGTG	0.632																																						ENST00000298585.2																			2	Insertion - Frameshift(2)	p.V80fs*34(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(235-237)gcfs		zinc finger, MYND-type containing 19							51	60	57					9																	140481542		2203	4299	6502	SO:0001589	frameshift_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481542delC	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.236delG	9.37:g.140481542delC	ENSP00000298585:p.Gly79fs					ZMYND19_ENST00000471957.1_5'UTR	p.G79fs	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	462	-	all_cancers(76;0.106)		79					Q5T366	Frame_Shift_Del	DEL	ENST00000298585.2	37	c.236delG	CCDS7048.1																																																																																				0.632	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		9	810						9	810	---	---	---	---	-	140481542	C	-	140481542	7	5	113	1	0	1	0	1	0	0	0	0	17763	739	26	0	459	0	ZMYND19	9	140481542	Frame_Shift_Del	DEL	C	TCGA-US-A779-01A-11D-A32N-08	9768758	140481542	731889	56	36929											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	6	10	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:37486356G>C	ENST00000602533.1	+	29	2595	c.2496G>C	c.(2494-2496)aaG>aaC	p.K832N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K951N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888					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						AAATGCAAAAGTCTGTTCCAA	0.308																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2851-2853)aaG>aaC		ankyrin repeat domain 30A							87	78	81					10																	37486356		1801	4060	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486356G>C	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.2496G>C	10.37:g.37486356G>C	ENSP00000473551:p.Lys832Asn					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N	p.K951N			Q9BXX3	AN30A_HUMAN			35	2952	+			1000					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2853G>C		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	339	0	0	0	1	0	4	339					C	37486356	G	C	37486356	3	2	113	1	0	0	0	0	1	0	0	0	658	1020	36	5	2610	5	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		37486356	98048391	57	36930											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	9	15	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"T, Mis, N, F"	ret proto-oncogene	yes	Hirschsprung disease	"E, O"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(3055-3057)gCg>gTg		ret proto-oncogene	Sunitinib(DB01268)						252	239	243					10																	43622039		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43622039C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val					RET_ENST00000340058.5_Missense_Mutation_p.A1019V	p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			19	3288	+		Ovarian(717;0.0423)	1019					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.3056C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		0.557	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		7	1196	0	0	0	1	0	7	1196					T	43622039	C	T	43622039	3	4	113	1	0	0	0	0	1	0	0	0	13285	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	6135683	43622039	91912708	58	36931											
AGAP5	729092	broad.mit.edu	37	chr10	75457349	75457349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtcctcaccaacttcaacGgtcacctcagcaggctgcac	8	16	4	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:75457349G>A	ENST00000374094.4	-	1	205	c.165C>T	c.(163-165)acC>acT	p.T55T	RP11-574K11.28_ENST00000580790.1_RNA|RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000443782.2_Silent_p.T55T	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	55					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.T55T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CAACTTCAACGGTCACCTCAG	0.582																																						ENST00000443782.2																			1	Substitution - coding silent(1)	p.T55T(1)	endometrium(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(163-165)acC>acT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							136	120	125					10																	75457349		692	1591	2283	SO:0001819	synonymous_variant	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457349G>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.165C>T	10.37:g.75457349G>A						RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.T55T	p.T55T			A6NIR3	AGAP5_HUMAN			1	290	-			55					A8MSN5	Silent	SNP	ENST00000374094.4	37	c.165C>T	CCDS44439.1																																																																																				0.582	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		XM_001132585		7	720	0	0	0	1	0	7	720					A	75457349	G	A	75457349	2	1	113	1	0	0	0	0	0	0	0	1	371	1103	39	1		1	AGAP5	10	75457349	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	31835310	75457349	60077398	59	36932											
KNDC1	85442	broad.mit.edu	37	chr10	135027504	135027504	+	Frame_Shift_Del	DEL	A	A	-													cttctgagtctctttcggccAaaacctgcagcttatttctg							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:135027504delA	ENST00000304613.3	+	26	4576	c.4555delA	c.(4555-4557)aaafs	p.K1519fs	KNDC1_ENST00000368572.2_Frame_Shift_Del_p.K1521fs			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1519	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)		TCTTTCGGCCAAAACCTGCAG	0.547																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4555-4557)aafs		kinase non-catalytic C-lobe domain (KIND) containing 1							138	120	126					10																	135027504		2203	4300	6503	SO:0001589	frameshift_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135027504delA	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.4555delA	10.37:g.135027504delA	ENSP00000304437:p.Lys1519fs					KNDC1_ENST00000368572.2_Frame_Shift_Del_p.K1521fs	p.K1519fs			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	26	4576	+		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)	1519			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Frame_Shift_Del	DEL	ENST00000304613.3	37	c.4555delA	CCDS7674.1																																																																																				0.547	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		8	817						8	817	---	---	---	---	-	135027504	A	-	135027504	7	5	113	1	0	1	0	1	0	0	0	0	8456	131	5	0	4657	0	KNDC1	10	135027504	Frame_Shift_Del	DEL	A	TCGA-US-A779-01A-11D-A32N-08	59570155	135027504	507243	60	36933											
CDHR5	53841	broad.mit.edu	37	chr11	618994	618994	+	Frame_Shift_Del	DEL	G	G	-													aggtgctgttttctgcacccGggggccccccgggtgtggac							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:618994delG	ENST00000358353.3	-	14	1887	c.1565delC	c.(1564-1566)ccgfs	p.P522fs	CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	522					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCTGCACCCGGGGGCCCCCC	0.677																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1564-1566)cgfs		cadherin-related family member 5							55	72	66					11																	618994		2203	4299	6502	SO:0001589	frameshift_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618994delG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1565delC	11.37:g.618994delG	ENSP00000351118:p.Pro522fs					CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|CDHR5_ENST00000349570.7_Intron	p.P522fs			Q9HBB8	CDHR5_HUMAN			14	1887	-			522					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	c.1565delC	CCDS7707.1																																																																																				0.677	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		13	1078						13	1078	---	---	---	---	-	618994	G	-	618994	7	5	113	1	0	1	0	1	0	0	0	0	3131	1116	39	0	984	0	CDHR5	11	618994	Frame_Shift_Del	DEL	G	TCGA-US-A779-01A-11D-A32N-08		618994	134387522	61	36934											
EPS8L2	64787	broad.mit.edu	37	chr11	722431	722431	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagtggcccagacatcGcacgctccgtctcctgccca	9	19	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:722431G>A	ENST00000533256.1	+	14	1465	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	364					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGACATCGCACGCTCCGT	0.647																																						ENST00000533256.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1090-1092)Gca>Aca		EPS8-like 2							87	74	79					11																	722431		2203	4300	6503	SO:0001583	missense	64787					cytoplasm		g.chr11:722431G>A	AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1090G>A	11.37:g.722431G>A	ENSP00000435585:p.Ala364Thr					AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T	p.A364T			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1465	+		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)	364					B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1090G>A	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992138	0.35131	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	3.13	2.2	0.27929	.	0.089102	0.43919	U	0.000514	T	0.67896	0.2942	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	0.999;1.0	P;P	0.61275	0.886;0.87	T	0.59225	-0.7494	10	0.87932	D	0	-11.1368	9.2022	0.37265	0.1144:0.0:0.8856:0.0	.	380;364	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	T	364;364;364;380	ENSP00000320828:A364T;ENSP00000435585:A364T;ENSP00000436035:A364T;ENSP00000436230:A380T	ENSP00000320828:A364T	A	+	1	0	EPS8L2	712431	0.964000	0.33143	0.005000	0.12908	0.689000	0.40095	3.519000	0.53458	0.664000	0.31047	0.486000	0.48141	GCA		0.647	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1	NM_022772		5	258	0	0	0	1	0	5	258					A	722431	G	A	722431	3	1	113	1	0	0	0	0	1	0	0	0	5214	1087	38	1	1136	1	EPS8L2	11	722431	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	103437	722431	134284085	62	36935											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tacagcagctggactgggagCagctgggcttgcagcagctg	16	10	0	0	rs548851553		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													c|||	1	0.000199681	0.0	0.0	5008	,	,		16593	0.0		0.0	False		,,,				2504	0.001					ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(463-465)tGc>tCc		keratin associated protein 5-3							130	142	138					11																	1629152		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629152C>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.464G>C	11.37:g.1629152C>G	ENSP00000382592:p.Cys155Ser						p.C155S	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	541	-		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)	155			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.464G>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226901	0.22542	.	.	ENSG00000196224	ENST00000399685	T	0.01527	4.8	3.33	3.33	0.38152	.	.	.	.	.	T	0.09598	0.0236	M	0.83012	2.62	0.33018	D	0.528479	D	0.65815	0.995	D	0.63793	0.918	T	0.04976	-1.0914	9	0.62326	D	0.03	.	12.975	0.58532	0.0:1.0:0.0:0.0	.	155	Q6L8H2	KRA53_HUMAN	S	155	ENSP00000382592:C155S	ENSP00000382592:C155S	C	-	2	0	KRTAP5-3	1585728	.	.	0.662000	0.29724	0.024000	0.10985	.	.	1.809000	0.52856	0.281000	0.19383	TGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			8	1276	0	0	0	1	0	8	1276					G	1629152	C	G	1629152	3	3	113	1	0	0	0	0	1	0	0	0	8593	710	25	5	256	5	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	906721	1629152	133377364	63	36936											
PRDM11	56981	broad.mit.edu	37	chr11	45246062	45246062	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgacgcctacagtcagtgtgCaacaacaatgacccatggtg	10	11	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:45246062C>A	ENST00000530656.1	+	7	1139	c.1139C>A	c.(1138-1140)gCa>gAa	p.A380E	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.A380E|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E			Q9NQV5	PRD11_HUMAN	PR domain containing 11	380							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGTCAGTGTGCAACAACAATG	0.582																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1138-1140)gCa>gAa		PR domain containing 11							104	110	108					11																	45246062		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45246062C>A	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.1139C>A	11.37:g.45246062C>A	ENSP00000435976:p.Ala380Glu					PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A380E|PRDM11_ENST00000528980.1_Intron	p.A380E			Q9NQV5	PRD11_HUMAN			8	1388	+			380					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.1139C>A		.	.	.	.	.	.	.	.	.	.	C	3.853	-0.031534	0.07543	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.9	5.41	2.37	0.29283	.	0.371038	0.22974	N	0.053384	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P	0.41848	0.763	B	0.39840	0.311	T	0.10965	-1.0607	10	0.25751	T	0.34	-4.2871	4.8943	0.13742	0.1119:0.3303:0.4654:0.0924	.	380	Q9NQV5	PRD11_HUMAN	E	380;380;346	ENSP00000263765:A380E;ENSP00000435976:A380E;ENSP00000394314:A346E	ENSP00000263765:A380E	A	+	2	0	PRDM11	45202638	0.994000	0.37717	0.003000	0.11579	0.009000	0.06853	3.098000	0.50259	0.656000	0.30886	-0.259000	0.10710	GCA		0.582	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		6	657	1	0	0.00307968	1	0.00312285	6	657					A	45246062	C	A	45246062	3	1	113	1	0	0	0	0	1	0	0	0	12499	710	25	3	1165	3	PRDM11	11	45246062	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	43616910	45246062	89760454	64	36937											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714436	65714436	+	RNA	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagacagcaaagaaggaccGcaagcccaggggccagagca	14	12	0	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:65714436G>A	ENST00000532620.1	+	0	464				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AAGAAGGACCGCAAGCCCAGG	0.597																																						ENST00000532620.1																			0				endometrium(2)|kidney(3)|lung(9)	14								testis specific, 10 interacting protein							81	89	86					11																	65714436		2056	4204	6260			254187							g.chr11:65714436G>A	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714436G>A										Q3SY00	T10IP_HUMAN			0	464	+								Q3SXZ9|Q3SY01|Q96M26	RNA	SNP	ENST00000532620.1	37																																																																																						0.597	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		4	250	0	0	0	1	0	4	250					A	65714436	G	A	65714436	1	1	113	0	1	0	0	0	0	0	0	0	16671	1087	38	1		1	TSGA10IP	11	65714436	RNA	SNP	G	TCGA-US-A779-01A-11D-A32N-08	20468374	65714436	69292080	65	36938											
DPP3	10072	broad.mit.edu	37	chr11	66260292	66260292	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccccaacctttgagaAggacaagttcctcacccctg	8	16	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:66260292A>T	ENST00000360510.2	+	10	1159	c.1094A>T	c.(1093-1095)aAg>aTg	p.K365M	DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000532677.1_Missense_Mutation_p.K384M|DPP3_ENST00000530165.1_Missense_Mutation_p.K335M			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	365					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						ACCTTTGAGAAGGACAAGTTC	0.597																																						ENST00000532677.1																			0				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						c.(1150-1152)aAg>aTg		dipeptidyl-peptidase 3							92	91	92					11																	66260292		2200	4295	6495	SO:0001583	missense	10072				proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	g.chr11:66260292A>T	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.1094A>T	11.37:g.66260292A>T	ENSP00000353701:p.Lys365Met					DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000360510.2_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR	p.K384M	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN			10	1552	+			365					B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	ENST00000360510.2	37	c.1151A>T	CCDS8141.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816240	0.90790	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	5.41	5.41	0.78517	.	0.094343	0.64402	D	0.000001	T	0.62060	0.2397	M	0.90082	3.085	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.70733	-0.4791	10	0.87932	D	0	.	13.4157	0.60968	1.0:0.0:0.0:0.0	.	384;365	G3V1D3;Q9NY33	.;DPP3_HUMAN	M	385;384;365;365;365;335;263	ENSP00000432782:K385M;ENSP00000435284:K384M;ENSP00000353701:K365M;ENSP00000389943:K365M;ENSP00000440502:K365M;ENSP00000436941:K335M	ENSP00000353701:K365M	K	+	2	0	DPP3	66016868	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.519000	0.90563	2.052000	0.61016	0.533000	0.62120	AAG		0.597	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393424.2			6	566	0	0	0	1	0	6	566					T	66260292	A	T	66260292	3	4	113	1	0	0	0	0	1	0	0	0	4744	72	3	5	1128	5	DPP3	11	66260292	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08	545856	66260292	68746224	66	36939											
FAT3	120114	broad.mit.edu	37	chr11	92599977	92599977	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatcttgggcatctcgggccGtgctgtcaacgacgggagct	14	11	3	0	rs376837097		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:92599977G>A	ENST00000298047.6	+	21	11746	c.11729G>A	c.(11728-11730)cGt>cAt	p.R3910H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3910	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3910L(2)|p.R485L(1)		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)				ATCTCGGGCCGTGCTGTCAAC	0.627										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			3	Substitution - Missense(3)	p.R3910L(2)|p.R485L(1)	lung(3)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11728-11730)cGt>cAt		FAT atypical cadherin 3							34	39	37					11																	92599977		2044	4192	6236	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92599977G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11729G>A	11.37:g.92599977G>A	ENSP00000298047:p.Arg3910His	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H	p.R3910H			Q8TDW7	FAT3_HUMAN			21	11746	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3910			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11729G>A		.	.	.	.	.	.	.	.	.	.	G	15.94	2.980435	0.53827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.72755	0.3500	L	0.61387	1.9	0.80722	D	1	P;B	0.39831	0.69;0.039	B;B	0.30495	0.116;0.023	T	0.71407	-0.4602	9	0.15499	T	0.54	.	19.9934	0.97376	0.0:0.0:1.0:0.0	.	3910;3910	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3910;3910;3760;245	ENSP00000298047:R3910H;ENSP00000387040:R3910H;ENSP00000432586:R3760H;ENSP00000436399:R245H	ENSP00000298047:R3910H	R	+	2	0	FAT3	92239625	1.000000	0.71417	0.964000	0.40570	0.724000	0.41520	6.323000	0.72891	2.732000	0.93576	0.561000	0.74099	CGT		0.627	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		45	131	0	0	0	1	0	45	131					A	92599977	G	A	92599977	3	1	113	1	0	0	0	0	1	0	0	0	5716	1145	40	1	11811	1	FAT3	11	92599977	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	26339685	92599977	42406539	67	36940											
CNTN5	53942	broad.mit.edu	37	chr11	99872865	99872865	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatggaatgctttgcacttgGcaagtaagtacatgttcttc	10	7	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:99872865G>A	ENST00000524871.1	+	9	1267	c.977G>A	c.(976-978)gGc>gAc	p.G326D	CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D|CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	326	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)		TTTGCACTTGGCAAGTAAGTA	0.358																																						ENST00000524871.1																			0				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						c.(976-978)gGc>gAc		contactin 5							81	78	79					11																	99872865		1853	4086	5939	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872865G>A	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.977G>A	11.37:g.99872865G>A	ENSP00000435637:p.Gly326Asp					CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D	p.G326D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	9	1267	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	326			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.977G>A	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872029	0.91587	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94479	0.8223	H	0.98738	4.315	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	0.96454	0.9336	10	0.87932	D	0	.	18.779	0.91924	0.0:0.0:1.0:0.0	.	326;252;326	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	326;326;326;252;326	ENSP00000433575:G326D;ENSP00000436185:G326D;ENSP00000435637:G326D;ENSP00000393229:G252D;ENSP00000279463:G326D	ENSP00000279463:G326D	G	+	2	0	CNTN5	99378075	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.682000	0.91365	0.591000	0.81541	GGC		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		3	40	0	0	0	1	0	3	40					A	99872865	G	A	99872865	3	1	113	1	0	0	0	0	1	0	0	0	3653	1203	42	2	1003	2	CNTN5	11	99872865	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	7272888	99872865	35133651	68	36941											
IFFO1	25900	broad.mit.edu	37	chr12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-													cggagtcctcagcctcgcttGgcggcggcggcgggtcgcta					rs144019095		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|RP5-940J5.9_ENST00000602946.1_RNA|RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						ENST00000436152.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(712-717)cca>cc		intermediate filament family orphan 1																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	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.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del	p.PP238del			Q0D2I5	IFFO1_HUMAN			11	1273_1275	-			541					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.714_716delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		7	525						7	525	---	---	---	---	-	6649706	GGC	-	6649704	7	5	113	1	0	1	0	1	0	0	0	0	7540	1348	47	0	58	0	IFFO1	12	6649704	In_Frame_Del	DEL	GGC	TCGA-US-A779-01A-11D-A32N-08		6649704	127202191	69	36942											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		25	73	0	0	0	1	0	25	73					T	25398284	C	T	25398284	3	4	113	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	18748580	25398284	108453611	70	36943											
METTL7A	25840	broad.mit.edu	37	chr12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtaacctgcaggagtttgCgggcccctccgggaaactct	12	13	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	66						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552																																						ENST00000548553.1																			1	Substitution - Missense(1)	p.A66V(1)	lung(1)	endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(196-198)gCg>gTg		methyltransferase like 7A							41	41	41					12																	51319018		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51319018C>T		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.197C>T	12.37:g.51319018C>T	ENSP00000448785:p.Ala66Val					METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V	p.A66V			Q9H8H3	MET7A_HUMAN			2	1178	+			66					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.197C>T	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439444	0.25900	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.16597	2.33;2.33;2.33	5.0	-1.08	0.09936	.	0.852961	0.10781	N	0.634907	T	0.09598	0.0236	L	0.34521	1.04	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.12837	0.003;0.008	T	0.38993	-0.9635	10	0.20519	T	0.43	-1.5348	2.5233	0.04685	0.1123:0.4458:0.1094:0.3324	.	66;66	B4DDW1;Q9H8H3	.;MET7A_HUMAN	V	66	ENSP00000448785:A66V;ENSP00000450239:A66V;ENSP00000331787:A66V	ENSP00000331787:A66V	A	+	2	0	METTL7A	49605285	0.000000	0.05858	0.000000	0.03702	0.544000	0.35116	0.002000	0.13061	-0.304000	0.08843	-0.140000	0.14226	GCG		0.552	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		4	250	0	0	0	1	0	4	250					T	51319018	C	T	51319018	3	4	113	1	0	0	0	0	1	0	0	0	9546	768	27	1	199	1	METTL7A	12	51319018	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	25920734	51319018	82532877	71	36944											
NACA	4666	broad.mit.edu	37	chr12	57111554	57111554	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggggtggggtagctgggcCtccttttggggagggaggag	24	5	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57111554C>T	ENST00000454682.1	-	3	4041	c.3760G>A	c.(3760-3762)Ggc>Agc	p.G1254S	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1254	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						GTAGCTGGGCCTCCTTTTGGG	0.662			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3760-3762)Ggc>Agc		nascent polypeptide-associated complex alpha subunit							45	66	60					12																	57111554		1198	2854	4052	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111554C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3760G>A	12.37:g.57111554C>T	ENSP00000403817:p.Gly1254Ser					NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	p.G1254S	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4041	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3760G>A		.	.	.	.	.	.	.	.	.	.	c	8.234	0.805325	0.16467	.	.	ENSG00000196531	ENST00000454682	T	0.47177	0.85	3.77	1.86	0.25419	.	.	.	.	.	T	0.27489	0.0675	.	.	.	0.09310	N	1	B	0.30281	0.275	B	0.26614	0.071	T	0.15607	-1.0431	7	.	.	.	.	4.6883	0.12769	0.3776:0.513:0.0:0.1094	.	1254	E9PAV3	.	S	1254	ENSP00000403817:G1254S	.	G	-	1	0	NACA	55397821	0.017000	0.18338	0.000000	0.03702	0.016000	0.09150	-0.133000	0.10451	0.095000	0.17434	-0.706000	0.03657	GGC		0.662	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	790	0	0	0	1	0	6	790					T	57111554	C	T	57111554	3	4	113	1	0	0	0	0	1	0	0	0	10174	681	24	2	2504	2	NACA	12	57111554	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	5792536	57111554	76740341	72	36945											
NACA	4666	broad.mit.edu	37	chr12	57111746	57111746	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggcccctttgggggAtggggtagctagacctcctt	17	9	0	1	rs2958150		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:57111746A>G	ENST00000454682.1	-	3	3849	c.3568T>C	c.(3568-3570)Tcc>Ccc	p.S1190P	NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1190	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						CCTTTGGGGGATGGGGTAGCT	0.632			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3568-3570)Tcc>Ccc		nascent polypeptide-associated complex alpha subunit							70	79	76					12																	57111746		1211	2850	4061	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111746A>G	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3568T>C	12.37:g.57111746A>G	ENSP00000403817:p.Ser1190Pro					NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron	p.S1190P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3849	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.3568T>C		.	.	.	.	.	.	.	.	.	.	N	4.185	0.032930	0.08101	.	.	ENSG00000196531	ENST00000454682	T	0.48522	0.81	3.45	-6.89	0.01660	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13656	-1.0501	7	.	.	.	.	3.2779	0.06904	0.2678:0.208:0.4211:0.1031	.	1190	E9PAV3	.	P	1190	ENSP00000403817:S1190P	.	S	-	1	0	NACA	55398013	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.625000	0.05534	-2.321000	0.00641	-2.753000	0.00124	TCC		0.632	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	687	0	0	0	1	0	8	687					G	57111746	A	G	57111746	3	3	113	1	0	0	0	0	1	0	0	0	10174	333	12	4	2696	4	NACA	12	57111746	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08	192	57111746	76740149	73	36946											
GEFT	115557	broad.mit.edu	37	chr12	58010623	58010623	+	Frame_Shift_Del	DEL	A	A	-													cctccagtctctccaactccAaaaacccctccctgccaagc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:58010623delA	ENST00000286494.4	+	15	2149	c.1689delA	c.(1687-1689)ccafs	p.P563fs	ARHGEF25_ENST00000477314.1_3'UTR|ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	563						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CTCCAACTCCAAAAACCCCTC	0.537																																						ENST00000286494.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1687-1689)ccfs		Rho guanine nucleotide exchange factor (GEF) 25							106	119	115					12																	58010623		2203	4300	6503	SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010623delA		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1689delA	12.37:g.58010623delA	ENSP00000286494:p.Pro563fs					ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA	p.P563fs	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			15	2149	+			563					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Del	DEL	ENST00000286494.4	37	c.1689delA	CCDS8947.1																																																																																				0.537	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		7	985						7	985	---	---	---	---	-	58010623	A	-	58010623	7	5	113	1	0	1	0	1	0	0	0	0	6357	117	5	0	1969	0	GEFT	12	58010623	Frame_Shift_Del	DEL	A	TCGA-US-A779-01A-11D-A32N-08	898877	58010623	75841272	74	36947											
DPY19L2	283417	broad.mit.edu	37	chr12	64061890	64061890	+	Frame_Shift_Del	DEL	T	T	-													gcgcctgcagttcctgcaccTtttcccggagctgcgccagg							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:64061890delT	ENST00000324472.4	-	1	467	c.284delA	c.(283-285)aagfs	p.K95fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	95					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TTCCTGCACCTTTTCCCGGAG	0.612																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(283-285)agfs		dpy-19-like 2 (C. elegans)							62	66	65					12																	64061890		2203	4300	6503	SO:0001589	frameshift_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061890delT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.284delA	12.37:g.64061890delT	ENSP00000315988:p.Lys95fs					RP11-415I12.3_ENST00000509615.2_RNA	p.K95fs	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	467	-			95					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Frame_Shift_Del	DEL	ENST00000324472.4	37	c.284delA	CCDS31851.1																																																																																				0.612	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		8	603						8	603	---	---	---	---	-	64061890	T	-	64061890	7	5	113	1	0	1	0	1	0	0	0	0	4757	1609	56	0	2080	0	DPY19L2	12	64061890	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08	6051267	64061890	69790005	75	36948											
LRRC10	376132	broad.mit.edu	37	chr12	70003865	70003865	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaccaacgcatagcgcctggCttttctagggtcgggctctg	13	12	2	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:70003865C>T	ENST00000361484.3	-	1	1077	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	252					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|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)			TAGCGCCTGGCTTTTCTAGGG	0.582																																						ENST00000361484.3																			0				large_intestine(2)|lung(6)	8						c.(754-756)Gcc>Acc		leucine rich repeat containing 10							100	83	88					12																	70003865		2203	4300	6503	SO:0001583	missense	376132					nucleus		g.chr12:70003865C>T	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.754G>A	12.37:g.70003865C>T	ENSP00000355166:p.Ala252Thr						p.A252T	NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|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)		1	1077	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		252					Q6ZVY4	Missense_Mutation	SNP	ENST00000361484.3	37	c.754G>A	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599545	0.28534	.	.	ENSG00000198812	ENST00000361484	T	0.58060	0.36	5.63	2.59	0.31030	.	0.485815	0.21421	N	0.074802	T	0.30135	0.0755	N	0.16478	0.41	0.27690	N	0.94614	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	10	0.17832	T	0.49	.	7.034	0.24983	0.0:0.5914:0.1946:0.214	.	252	Q5BKY1	LRC10_HUMAN	T	252	ENSP00000355166:A252T	ENSP00000355166:A252T	A	-	1	0	LRRC10	68290132	0.993000	0.37304	0.998000	0.56505	0.930000	0.56654	1.083000	0.30815	0.823000	0.34589	0.561000	0.74099	GCC		0.582	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		95	295	0	0	0	1	0	95	295					T	70003865	C	T	70003865	3	4	113	1	0	0	0	0	1	0	0	0	9005	797	28	2	83	2	LRRC10	12	70003865	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	5941975	70003865	63848030	76	36949											
GPR18	2841	broad.mit.edu	37	chr13	99907388	99907388	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcgaaacagatgtggaaggGcataaagcagacgagcacct	13	8	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr13:99907388G>A	ENST00000340807.3	-	3	1295	c.739C>T	c.(739-741)Ccc>Tcc	p.P247S	GPR18_ENST00000397470.2_Missense_Mutation_p.P247S|UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	247					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	ATGTGGAAGGGCATAAAGCAG	0.527																																						ENST00000340807.3																			0				endometrium(2)|large_intestine(2)|lung(6)	10						c.(739-741)Ccc>Tcc		G protein-coupled receptor 18	Glycine(DB00145)						200	151	168					13																	99907388		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907388G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.739C>T	13.37:g.99907388G>A	ENSP00000343428:p.Pro247Ser					UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.P247S	p.P247S			Q14330	GPR18_HUMAN			3	1295	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		247					Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.739C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722418	0.89298	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.80304	-1.36;-1.36;-1.36	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92143	0.7509	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92507	0.6013	9	.	.	.	-21.4099	20.2187	0.98312	0.0:0.0:1.0:0.0	.	247	Q14330	GPR18_HUMAN	S	247	ENSP00000380613:P247S;ENSP00000380610:P247S;ENSP00000343428:P247S	.	P	-	1	0	GPR18	98705389	1.000000	0.71417	0.904000	0.35570	0.964000	0.63967	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	CCC		0.527	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			5	421	0	0	0	1	0	5	421					A	99907388	G	A	99907388	3	1	113	1	0	0	0	0	1	0	0	0	6704	1203	42	2	260	2	GPR18	13	99907388	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		99907388	15262490	77	36950											
NYNRIN	57523	broad.mit.edu	37	chr14	24877207	24877207	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcacccttgcctacctgGtgcctggcccccctggctcc	11	19	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:24877207G>T	ENST00000382554.3	+	3	649	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	111					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						TGCCTACCTGGTGCCTGGCCC	0.642																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(331-333)Gtg>Ttg		NYN domain and retroviral integrase containing							66	72	70					14																	24877207		2093	4213	6306	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877207G>T	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.331G>T	14.37:g.24877207G>T	ENSP00000371994:p.Val111Leu						p.V111L	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	649	+			111					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.331G>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375905	0.61735	.	.	ENSG00000205978	ENST00000382554	T	0.12255	2.7	4.82	4.82	0.62117	.	0.830019	0.09626	N	0.776903	T	0.18130	0.0435	M	0.65975	2.015	0.24216	N	0.995458	B	0.21520	0.057	B	0.17979	0.02	T	0.08638	-1.0712	10	0.87932	D	0	.	8.9155	0.35579	0.0986:0.0:0.9014:0.0	.	111	Q9P2P1	NYNRI_HUMAN	L	111	ENSP00000371994:V111L	ENSP00000371994:V111L	V	+	1	0	NYNRIN	23947047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.690000	0.54713	2.503000	0.84419	0.655000	0.94253	GTG		0.642	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			138	342	1	0	8.27649e-76	1	8.89108e-76	138	342					T	24877207	G	T	24877207	3	4	113	1	0	0	0	0	1	0	0	0	10838	1261	44	3	337	3	NYNRIN	14	24877207	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		24877207	82472333	78	36951											
ADAM20	8748	broad.mit.edu	37	chr14	70991279	70991279	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtatctctgtcccccaaaccGcaggctataggagagccatc	9	14	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:70991279G>A	ENST00000256389.3	-	2	590	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	66					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)		CCCCCAAACCGCAGGCTATAG	0.527																																						ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(346-348)Cgg>Tgg		ADAM metallopeptidase domain 20							112	86	95					14																	70991279		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70991279G>A	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.346C>T	14.37:g.70991279G>A	ENSP00000256389:p.Arg116Trp					RP11-486O13.4_ENST00000556646.1_lincRNA	p.R116W	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	590	-			66					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.346C>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232779	0.05983	.	.	ENSG00000134007	ENST00000256389	T	0.07216	3.21	4.14	-1.25	0.09405	Peptidase M12B, propeptide (1);	0.844512	0.09575	U	0.783660	T	0.07369	0.0186	L	0.54323	1.7	0.09310	N	1	B	0.26602	0.154	B	0.24269	0.052	T	0.40794	-0.9544	10	0.59425	D	0.04	.	1.3442	0.02160	0.2309:0.1227:0.4097:0.2367	.	66	O43506	ADA20_HUMAN	W	116	ENSP00000256389:R116W	ENSP00000256389:R116W	R	-	1	2	ADAM20	70061032	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.996000	0.03709	-0.123000	0.11745	0.650000	0.86243	CGG		0.527	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			5	353	0	0	0	1	0	5	353					A	70991279	G	A	70991279	3	1	113	1	0	0	0	0	1	0	0	0	242	1086	38	1	1988	1	ADAM20	14	70991279	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	46114072	70991279	36358261	79	36952											
LTBP2	4053	broad.mit.edu	37	chr14	74969572	74969572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccatactcatagcctggccGgaagtggaccccggcctccc	11	17	1	0	rs142182623	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74969572G>A	ENST00000261978.4	-	34	5340	c.4954C>T	c.(4954-4956)Cgg>Tgg	p.R1652W	LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1652					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)		TAGCCTGGCCGGAAGTGGACC	0.632													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18329	0.0		0.001	False		,,,				2504	0.0					ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4954-4956)Cgg>Tgg		latent transforming growth factor beta binding protein 2		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	46	52	50		4954	5	1	14	dbSNP_134	50	0,8600		0,0,4300	yes	missense	LTBP2	NM_000428.2	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1652/1822	74969572	2,13004	2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969572G>A		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.4954C>T	14.37:g.74969572G>A	ENSP00000261978:p.Arg1652Trp					LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W	p.R1652W	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	34	5340	-			1652					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4954C>T	CCDS9831.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.148204	0.78001	4.54E-4	0.0	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.24;-1.24	5.04	5.04	0.67666	.	0.000000	0.38217	N	0.001768	T	0.81039	0.4740	L	0.32530	0.975	0.38329	D	0.943745	D	0.89917	1.0	D	0.91635	0.999	T	0.83233	-0.0062	10	0.66056	D	0.02	.	11.1565	0.48491	0.0:0.0:0.7663:0.2337	.	1652	Q14767	LTBP2_HUMAN	W	1652;1608	ENSP00000261978:R1652W;ENSP00000451477:R1608W	ENSP00000261978:R1652W	R	-	1	2	LTBP2	74039325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.443000	0.59994	2.610000	0.88304	0.561000	0.74099	CGG		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		5	461	0	0	0	1	0	5	461					A	74969572	G	A	74969572	3	1	113	1	0	0	0	0	1	0	0	0	9112	1115	39	1	523	1	LTBP2	14	74969572	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	3978293	74969572	32379968	80	36953											
LTBP2	4053	broad.mit.edu	37	chr14	74988701	74988701	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgcggttgatgcagcGcccttttcccttgcaggggt	12	15	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74988701G>A	ENST00000261978.4	-	17	3087	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	901	Cys-rich.|EGF-like 5; 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)		TTGATGCAGCGCCCTTTTCCC	0.622																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2701-2703)Cgc>Tgc		latent transforming growth factor beta binding protein 2							78	70	73					14																	74988701		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74988701G>A		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.2701C>T	14.37:g.74988701G>A	ENSP00000261978:p.Arg901Cys					LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C	p.R901C	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	17	3087	-			901			Cys-rich.|EGF-like 5; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2701C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840149	0.71488	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.22336	1.96;1.96	3.99	3.99	0.46301	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.184414	0.26525	N	0.023890	T	0.47710	0.1460	M	0.86864	2.845	0.50467	D	0.999877	D	0.76494	0.999	P	0.62740	0.906	T	0.55970	-0.8056	10	0.52906	T	0.07	.	13.9681	0.64221	0.0:0.0:1.0:0.0	.	901	Q14767	LTBP2_HUMAN	C	901	ENSP00000261978:R901C;ENSP00000451477:R901C	ENSP00000261978:R901C	R	-	1	0	LTBP2	74058454	0.999000	0.42202	0.944000	0.38274	0.649000	0.38597	7.347000	0.79356	2.214000	0.71695	0.462000	0.41574	CGC		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		14	134	0	0	0	1	0	14	134					A	74988701	G	A	74988701	3	1	113	1	0	0	0	0	1	0	0	0	9112	1087	38	1	2844	1	LTBP2	14	74988701	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	19129	74988701	32360839	81	36954											
TRIP11	9321	broad.mit.edu	37	chr14	92470800	92470800	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	acatttctgacttagtgcatCtatttcgatgtctttttctc	5	9	4	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470800C>G	ENST00000267622.4	-	11	3893	c.3520G>C	c.(3520-3522)Gat>Cat	p.D1174H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1174					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)		CTTAGTGCATCTATTTCGATG	0.348			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3520-3522)Gat>Cat		thyroid hormone receptor interactor 11							78	68	72					14																	92470800		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470800C>G	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.3520G>C	14.37:g.92470800C>G	ENSP00000267622:p.Asp1174His						p.D1174H	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3893	-			1174					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3520G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.784471|2.784471	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07800|.	3.16|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.54721|0.54721	-0.8251|-0.8251	10|5	0.72032|.	D|.	0.01|.	.|.	18.8762|18.8762	0.92337|0.92337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	910;1174|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	H|T	1174;910|889	ENSP00000267622:D1174H|.	ENSP00000267622:D1174H|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91540553|91540553	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.341000|0.341000	0.28922|0.28922	6.025000|6.025000	0.70864|0.70864	2.447000|2.447000	0.82792|0.82792	0.557000|0.557000	0.71058|0.71058	GAT|AGA		0.348	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			9	235	0	0	0	1	0	9	235					G	92470800	C	G	92470800	3	3	113	1	0	0	0	0	1	0	0	0	16608	913	32	5	2463	5	TRIP11	14	92470800	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	17482099	92470800	14878740	82	36955			1	29		3	3	169	C		2.746078e-07
TRIP11	9321	broad.mit.edu	37	chr14	92470905	92470905	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	agtggacaattttttattttCatcttgcagtttgataagag	8	4	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470905C>T	ENST00000267622.4	-	11	3788	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1139					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)		TTTTTATTTTCATCTTGCAGT	0.338			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3415-3417)Gaa>Aaa		thyroid hormone receptor interactor 11							65	61	62					14																	92470905		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470905C>T	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.3415G>A	14.37:g.92470905C>T	ENSP00000267622:p.Glu1139Lys						p.E1139K	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3788	-			1139					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3415G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785706	0.49997	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.07444	3.19	5.27	4.36	0.52297	.	0.167607	0.51477	D	0.000096	T	0.19725	0.0474	L	0.34521	1.04	0.50632	D	0.999884	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	T	0.01156	-1.1434	10	0.62326	D	0.03	.	15.583	0.76459	0.0:0.8616:0.1384:0.0	.	875;1139	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1139;875	ENSP00000267622:E1139K	ENSP00000267622:E1139K	E	-	1	0	TRIP11	91540658	1.000000	0.71417	0.729000	0.30791	0.253000	0.25986	7.773000	0.85462	1.158000	0.42547	0.563000	0.77884	GAA		0.338	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			4	113	0	0	0	1	0	4	113					T	92470905	C	T	92470905	3	4	113	1	0	0	0	0	1	0	0	0	16608	835	29	2	2568	2	TRIP11	14	92470905	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	105	92470905	14878635	83	36956			1	29		3	3	169	C		2.746078e-07
TRIP11	9321	broad.mit.edu	37	chr14	92470968	92470968	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	atccatcattttgtgatattCtgtttttagatggctatttt	6	5	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470968C>G	ENST00000267622.4	-	11	3725	c.3352G>C	c.(3352-3354)Gaa>Caa	p.E1118Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1118					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)		TTGTGATATTCTGTTTTTAGA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3352-3354)Gaa>Caa		thyroid hormone receptor interactor 11							84	80	81					14																	92470968		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92470968C>G	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.3352G>C	14.37:g.92470968C>G	ENSP00000267622:p.Glu1118Gln						p.E1118Q	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3725	-			1118					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.3352G>C	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.963335|1.963335	0.34659|0.34659	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07908|.	3.15|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.054850|.	0.64402|.	D|.	0.000001|.	T|T	0.58206|0.58206	0.2106|0.2106	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.76494|.	0.996;0.999|.	P;D|.	0.67382|.	0.892;0.951|.	T|T	0.53535|0.53535	-0.8425|-0.8425	10|5	0.35671|.	T|.	0.21|.	.|.	18.7643|18.7643	0.91866|0.91866	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	854;1118|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	1118;854|833	ENSP00000267622:E1118Q|.	ENSP00000267622:E1118Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91540721|91540721	1.000000|1.000000	0.71417|0.71417	0.236000|0.236000	0.24074|0.24074	0.094000|0.094000	0.18550|0.18550	7.726000|7.726000	0.84824|0.84824	2.420000|2.420000	0.82092|0.82092	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			4	186	0	0	0	1	0	4	186					G	92470968	C	G	92470968	3	3	113	1	0	0	0	0	1	0	0	0	16608	922	32	5	2631	5	TRIP11	14	92470968	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	63	92470968	14878572	84	36957			1	29		3	3	169	C		2.746078e-07
AHNAK2	113146	broad.mit.edu	37	chr14	105412407	105412407	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcggccagggacaggtcCccctccagccgtgcaccatc	11	17	0	0	rs374653111	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:105412407C>A	ENST00000333244.5	-	7	9500	c.9381G>T	c.(9379-9381)ggG>ggT	p.G3127G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3127						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622													.|||	3	0.000599042	0.0008	0.0	5008	,	,		18147	0.001		0.0	False		,,,				2504	0.001					ENST00000333244.5																			1	Substitution - coding silent(1)	p.G3127G(1)	ovary(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9379-9381)ggG>ggT		AHNAK nucleoprotein 2		A		0,3924		0,0,1962	152	129	136		9381	-6.6	0	14		136	2,8232		0,2,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6077	AA,AC,CC		0.0243,0.0,0.0165		3127/5796	105412407	2,12156	1962	4117	6079	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412407C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9381G>T	14.37:g.105412407C>A						AHNAK2_ENST00000557457.1_Intron	p.G3127G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9500	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3127					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9381G>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	520	1	0	0.00307968	1	0.00312285	6	520					A	105412407	C	A	105412407	2	1	113	1	0	0	0	0	0	0	0	1	415	610	22	3		3	AHNAK2	14	105412407	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	12941439	105412407	1937133	85	36958											
SPINT1	6692	broad.mit.edu	37	chr15	41149075	41149077	+	In_Frame_Del	DEL	CAC	CAC	-													agagaaaggacttccacggaCaccaccaccacccaccaccc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:41149075_41149077delCAC	ENST00000344051.4	+	11	1726_1728	c.1492_1494delCAC	c.(1492-1494)cacdel	p.H501del	SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del|SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	501					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)		CTTCCACGGACACCACCACCACC	0.586																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(1492-1494)del		serine peptidase inhibitor, Kunitz type 1																																				SO:0001651	inframe_deletion	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41149075_41149077delCAC		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.1492_1494delCAC	15.37:g.41149084_41149086delCAC	ENSP00000342098:p.His501del					SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del	p.H501del			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	11	1726_1728	+		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)	501					Q7Z7D2	In_Frame_Del	DEL	ENST00000344051.4	37	c.1492_1494delCAC	CCDS10067.1																																																																																				0.586	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		7	1220						7	1220	---	---	---	---	-	41149077	CAC	-	41149075	7	5	113	1	0	1	0	1	0	0	0	0	15120	478	17	0	1530	0	SPINT1	15	41149075	In_Frame_Del	DEL	CAC	TCGA-US-A779-01A-11D-A32N-08		41149075	61382317	86	36959											
EIF3J	8669	broad.mit.edu	37	chr15	44829395	44829397	+	Start_Codon_Del	DEL	GGC	GGC	-													gctcacacccggctcgagatGgcggcggcggcggcggcggc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:44829395_44829397delGGC	ENST00000535391.1	+	0	15_17				EIF3J_ENST00000261868.5_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del|EIF3J-AS1_ENST00000313807.4_lincRNA					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)		GGCTCGAGATggcggcggcggcg	0.719																																						ENST00000261868.5																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9								eukaryotic translation initiation factor 3, subunit J				1,1,72,3298		0,0,0,1,0,0,1,8,56,1620						4.4	1			13	26,28,170,6976		4,0,0,18,1,0,26,11,148,3392	no	codingComplex	EIF3J	NM_003758.2		4,0,0,19,1,0,27,19,204,5012	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.1111,2.1945,2.8188				27,29,242,10274				SO:0001582	initiator_codon_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44829395_44829397delGGC	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		15.37:g.44829404_44829406delGGC						EIF3J_ENST00000535391.1_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del		NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	0	141_143	+		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)							Translation_Start_Site	DEL	ENST00000535391.1	37																																																																																						0.719	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1	NM_003758		7	133						7	133	---	---	---	---	-	44829397	GGC	-	44829395	7	5	113	1	0	1	0	1	0	0	0	0	5038	1348	47	0	5	0	EIF3J	15	44829395	Start_Codon_Del	DEL	GGC	TCGA-US-A779-01A-11D-A32N-08	3680320	44829395	57701997	87	36960											
GLDN	342035	broad.mit.edu	37	chr15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacttcccagtctgttcttgCcatgttagcatacaacatga	6	11	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1552-1554)gCc>gTc		gliomedin							145	141	142					15																	51696848		2196	4293	6489	SO:0001583	missense	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696848C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1553C>T	15.37:g.51696848C>T	ENSP00000335196:p.Ala518Val					GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	p.A518V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1609	+			518			Olfactomedin-like.		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	c.1553C>T	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230301	0.95207	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.89123	-2.47;-2.47	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.92899	0.7741	L	0.46741	1.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.91752	0.5413	10	0.42905	T	0.14	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	518	Q6ZMI3	GLDN_HUMAN	V	518;394;394	ENSP00000335196:A518V;ENSP00000379681:A394V	ENSP00000335196:A518V	A	+	2	0	GLDN	49484140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	GCC		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		5	598	0	0	0	1	0	5	598					T	51696848	C	T	51696848	3	4	113	1	0	0	0	0	1	0	0	0	6463	739	26	2	1591	2	GLDN	15	51696848	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	6867453	51696848	50834544	88	36961											
KIAA1024	23251	broad.mit.edu	37	chr15	79750585	79750586	+	Frame_Shift_Ins	INS	-	-	A													agcctgcgggtcaaggccttINSaaaaaaaagcctcttcacca							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:79750585_79750586insA	ENST00000305428.3	+	2	2171_2172	c.2096_2097insA	c.(2095-2100)ttaaaafs	p.LK699fs		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	699						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						GTCAAGGCCTTAAAAAAAAGCC	0.545																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2095-2097)taafs		KIAA1024																																				SO:0001589	frameshift_variant	23251					integral to membrane		g.chr15:79750585_79750586insA	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.2104dupA	15.37:g.79750593_79750593dupA	ENSP00000307461:p.Leu699fs						p.*699fs	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	2171_2172	+			699					A7MD43	Frame_Shift_Ins	INS	ENST00000305428.3	37	c.2096_2097insA	CCDS32306.1																																																																																				0.545	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		8	661						8	661	---	---	---	---	A	79750586	-	A	79750585	7	5	113	1	0	1	1	0	0	0	0	0	8235	1764	61	0	2098	0	KIAA1024	15	79750585	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	28053737	79750585	22780807	89	36962											
PAQR4	124222	broad.mit.edu	37	chr16	3021758	3021758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctacctgcgcatggacGcactggcgctgcttggggga	15	13	0	0	rs200076772		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3021758G>A	ENST00000318782.8	+	3	1061	c.631G>A	c.(631-633)Gca>Aca	p.A211T	PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	211						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGCATGGACGCACTGGCGCT	0.657																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(631-633)Gca>Aca		progestin and adipoQ receptor family member IV							46	50	48					16																	3021758		2197	4300	6497	SO:0001583	missense	124222					integral to membrane	receptor activity	g.chr16:3021758G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.631G>A	16.37:g.3021758G>A	ENSP00000321804:p.Ala211Thr					PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T|PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T	p.A211T	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			3	1061	+			211					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Missense_Mutation	SNP	ENST00000318782.8	37	c.631G>A	CCDS10485.1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.633267	0.29068	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.30714	1.52;1.53	4.81	4.81	0.61882	.	0.062180	0.64402	D	0.000007	T	0.38639	0.1048	M	0.64080	1.96	0.37162	D	0.902642	D;P;P	0.56521	0.976;0.78;0.919	P;B;B	0.48840	0.592;0.187;0.37	T	0.41088	-0.9528	10	0.23302	T	0.38	-10.4425	15.3988	0.74818	0.0:0.0:1.0:0.0	.	136;172;211	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	T	211;137	ENSP00000321804:A211T;ENSP00000293978:A137T	ENSP00000293978:A137T	A	+	1	0	PAQR4	2961759	0.995000	0.38212	0.120000	0.21714	0.698000	0.40448	3.970000	0.56824	2.220000	0.72140	0.457000	0.33378	GCA		0.657	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		5	368	0	0	0	1	0	5	368					A	3021758	G	A	3021758	3	1	113	1	0	0	0	0	1	0	0	0	11479	1087	38	1	641	1	PAQR4	16	3021758	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08		3021758	87332995	90	36963											
MEFV	4210	broad.mit.edu	37	chr16	3299648	3299648	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accgggggcagccaggtgagCggctgcctgaggcctggggg	21	11	0	2	rs104895198		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3299648C>T	ENST00000219596.1	-	3	1082	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	348					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.R348H(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						GCCAGGTGAGCGGCTGCCTGA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16808	0.0		0.0	False		,,,				2504	0.001					ENST00000219596.1																			1	Substitution - Missense(1)	p.R348H(1)	ovary(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						c.(1042-1044)cGc>cAc		Mediterranean fever	Colchicine(DB01394)	C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	25	28	27	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1043,410	-8.2	0	16	dbSNP_132	27	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,4,6492	TT,TC,CC		0.0349,0.0228,0.0308	possibly-damaging,possibly-damaging	348/782,137/446	3299648	4,12988	2196	4300	6496	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299648C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1043G>A	16.37:g.3299648C>T	ENSP00000219596:p.Arg348His					MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H	p.R348H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	1082	-			348					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1043G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	5.370	0.253552	0.10185	2.28E-4	3.49E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64618	-0.11;0.32;0.22;0.33	4.11	-8.23	0.01033	.	2.533260	0.01059	N	0.004617	T	0.41971	0.1182	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43410	-0.9393	10	0.33141	T	0.24	-27.6587	14.814	0.70017	0.0:0.7071:0.1089:0.184	.	348	O15553	MEFV_HUMAN	H	348;348;168;137;137;137	ENSP00000219596:R348H;ENSP00000339639:R168H;ENSP00000438711:R137H;ENSP00000445079:R137H	ENSP00000219596:R348H	R	-	2	0	MEFV	3239649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.762000	0.00373	-2.922000	0.00304	-0.251000	0.11542	CGC		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		40	138	0	0	0	1	0	40	138					T	3299648	C	T	3299648	3	4	113	1	0	0	0	0	1	0	0	0	9500	768	27	1	1334	1	MEFV	16	3299648	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	277890	3299648	87055105	91	36964											
CREBBP	1387	broad.mit.edu	37	chr16	3824628	3824628	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggttcattggggaggctgcaCgaggtcccatgggtgcttgt	17	8	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3824628C>A	ENST00000262367.5	-	12	3034	c.2225G>T	c.(2224-2226)cGt>cTt	p.R742L	CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	742					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)		GGAGGCTGCACGAGGTCCCAT	0.522			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2224-2226)cGt>cTt		CREB binding protein							151	119	130					16																	3824628		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3824628C>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2225G>T	16.37:g.3824628C>A	ENSP00000262367:p.Arg742Leu					CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L	p.R742L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	12	3034	-		Ovarian(90;0.0266)	742					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2225G>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333841	0.81801	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84070	-1.8;-1.74	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.88952	0.6577	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.73380	0.98;0.901	D	0.88209	0.2889	10	0.44086	T	0.13	-18.4109	18.3882	0.90473	0.0:1.0:0.0:0.0	.	772;742	Q4LE28;Q92793	.;CBP_HUMAN	L	742;772;704	ENSP00000262367:R742L;ENSP00000371502:R704L	ENSP00000262367:R742L	R	-	2	0	CREBBP	3764629	1.000000	0.71417	0.203000	0.23512	0.964000	0.63967	6.965000	0.76067	2.663000	0.90544	0.557000	0.71058	CGT		0.522	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	350	1	0	1	1	1	5	350					A	3824628	C	A	3824628	3	1	113	1	0	0	0	0	1	0	0	0	3870	536	19	3	5183	3	CREBBP	16	3824628	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	524980	3824628	86530125	92	36965											
SMG1	23049	broad.mit.edu	37	chr16	18858860	18858860	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacatacatgtgttgttgcaGcaaaactcccagccagagct	9	11	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:18858860G>A	ENST00000446231.2	-	38	6323	c.5911C>T	c.(5911-5913)Ctg>Ttg	p.L1971L	SMG1_ENST00000389467.3_Silent_p.L1971L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1971	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						TGTTGTTGCAGCAAAACTCCC	0.493																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(5911-5913)Ctg>Ttg		SMG1 phosphatidylinositol 3-kinase-related kinase							118	119	119					16																	18858860		2114	4241	6355	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18858860G>A	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.5911C>T	16.37:g.18858860G>A						SMG1_ENST00000389467.3_Silent_p.L1971L	p.L1971L			Q96Q15	SMG1_HUMAN			38	6323	-			1971			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.5911C>T	CCDS45430.1																																																																																				0.493	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		7	400	0	0	0	1	0	7	400					A	18858860	G	A	18858860	2	1	113	1	0	0	0	0	0	0	0	1	14845	962	34	2		2	SMG1	16	18858860	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	15034232	18858860	71495893	93	36966											
PMFBP1	83449	broad.mit.edu	37	chr16	72170640	72170640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggcctctagttccacgcGcagatccttcaccaggttct	8	16	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:72170640G>A	ENST00000237353.10	-	8	1258	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	333						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)				AGTTCCACGCGCAGATCCTTC	0.552																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(997-999)Cgc>Tgc		polyamine modulated factor 1 binding protein 1							99	82	87					16																	72170640		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72170640G>A	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.997C>T	16.37:g.72170640G>A	ENSP00000237353:p.Arg333Cys					PMFBP1_ENST00000237353.10_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C	p.R333C			Q8TBY8	PMFBP_HUMAN			8	1155	-		Ovarian(137;0.179)	333					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.997C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375346	0.61735	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.19250	2.18;2.19;2.16	4.85	1.33	0.21861	.	0.554792	0.13865	N	0.357364	T	0.33440	0.0863	L	0.36672	1.1	0.42002	D	0.990895	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.996;0.881;0.996	T	0.07121	-1.0789	10	0.59425	D	0.04	-1.6358	10.8676	0.46864	0.0:0.0:0.3296:0.6704	.	333;333;333	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	C	333;333;188	ENSP00000443817:R333C;ENSP00000237353:R333C;ENSP00000347854:R188C	ENSP00000237353:R333C	R	-	1	0	PMFBP1	70728141	0.994000	0.37717	0.976000	0.42696	0.795000	0.44927	0.773000	0.26661	0.403000	0.25479	0.563000	0.77884	CGC		0.552	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		4	202	0	0	0	1	0	4	202					A	72170640	G	A	72170640	3	1	113	1	0	0	0	0	1	0	0	0	12176	1087	38	1	2142	1	PMFBP1	16	72170640	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	53311780	72170640	18184113	94	36967											
KCNG4	93107	broad.mit.edu	37	chr16	84256037	84256037	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaagatagacgtggccGggaaggccatgatgaggatc	17	6	0	4	rs142742654		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:84256037G>A	ENST00000308251.4	-	3	1414	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	449					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						AGACGTGGCCGGGAAGGCCAT	0.627																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1345-1347)cCg>cTg		potassium voltage-gated channel, subfamily G, member 4		G	LEU/PRO	0,4400		0,0,2200	71	70	70		1346	5.6	1	16	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNG4	NM_172347.2	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	449/520	84256037	1,12999	2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256037G>A	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.1346C>T	16.37:g.84256037G>A	ENSP00000312129:p.Pro449Leu						p.P449L	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1414	-			449					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1346C>T	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831268	0.91036	0.0	1.16E-4	ENSG00000168418	ENST00000308251	T	0.56103	0.48	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78380	-0.2226	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	449	Q8TDN1	KCNG4_HUMAN	L	449	ENSP00000312129:P449L	ENSP00000312129:P449L	P	-	2	0	KCNG4	82813538	1.000000	0.71417	0.999000	0.59377	1.000000	0.99986	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	CCG		0.627	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		5	477	0	0	0	1	0	5	477					A	84256037	G	A	84256037	3	1	113	1	0	0	0	0	1	0	0	0	8060	1116	39	1	215	1	KCNG4	16	84256037	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	12085397	84256037	6098716	95	36968											
TP53	7157	broad.mit.edu	37	chr17	7578373	7578373	+	Frame_Shift_Del	DEL	T	T	-													ccagccccagctgctcaccaTcgctatctgagcagcgctca							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7578373delT	ENST00000269305.4	-	5	746	c.557delA	c.(556-558)gatfs	p.D186fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	186	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|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.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*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)	CTGCTCACCATCGCTATCTGA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		17	Whole gene deletion(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Deletion - In frame(2)|Unknown(2)	p.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(1)	bone(4)|central_nervous_system(3)|oesophagus(3)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(556-558)gtfs	Other conserved DNA damage response genes	tumor protein p53							48	46	47					17																	7578373		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578373delT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.557delA	17.37:g.7578373delT	ENSP00000269305:p.Asp186fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs	p.D186fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	689	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	186		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.557delA	CCDS11118.1																																																																																				0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		111	115						111	115	---	---	---	---	-	7578373	T	-	7578373	7	5	113	1	0	1	0	1	0	0	0	0	16434	1435	50	0	741	0	TP53	17	7578373	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08		7578373	73616837	96	36969											
MYH8	4626	broad.mit.edu	37	chr17	10315769	10315769	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggtgaccatccacaggaac	13	11	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:10315769C>T	ENST00000403437.2	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	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	445	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.R445H(1)		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						CTGGTTGATGCGGGTGACCAT	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			1	Substitution - Missense(1)	p.R445H(1)	large_intestine(1)	NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1333-1335)cGc>cAc		myosin, heavy chain 8, skeletal muscle, perinatal							222	208	213					17																	10315769		2203	4297	6500	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10315769C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.1334G>A	17.37:g.10315769C>T	ENSP00000384330:p.Arg445His					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R445H	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			14	1428	-			445			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.1334G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	32	5.193020	0.94960	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.88741	-2.42	4.6	4.6	0.57074	Myosin head, motor domain (2);	0.000000	0.42548	U	0.000683	D	0.95481	0.8532	M	0.90759	3.145	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	D	0.96458	0.9339	10	0.87932	D	0	.	17.6116	0.88055	0.0:1.0:0.0:0.0	.	445	P13535	MYH8_HUMAN	H	445	ENSP00000384330:R445H	ENSP00000252173:R445H	R	-	2	0	MYH8	10256494	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	7.603000	0.82811	2.391000	0.81399	0.650000	0.86243	CGC		0.483	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		6	811	0	0	0	1	0	6	811					T	10315769	C	T	10315769	3	4	113	1	0	0	0	0	1	0	0	0	10082	768	27	1	4587	1	MYH8	17	10315769	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	2737396	10315769	70879441	97	36970											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcactggggcttgcagcaGctggacacacagcagctggg	15	12	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																						ENST00000333822.4																			1	Substitution - Missense(1)	p.S108R(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(322-324)agC>agG		keratin associated protein 4-8							4	6	6					17																	39254013		638	1500	2138	SO:0001583	missense	728224					keratin filament		g.chr17:39254013G>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg						p.S108R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	380	-			108			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.324C>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	213	0	0	0	1	0	5	213					C	39254013	G	C	39254013	3	2	113	1	0	0	0	0	1	0	0	0	8587	962	34	5	237	5	KRTAP4-8	17	39254013	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	28938244	39254013	41941197	98	36971											
WDR7	23335	broad.mit.edu	37	chr18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-													aaaatggacagacatggaccGggggggactttgtctcatca							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:54358513delG	ENST00000254442.3	+	8	995	c.784delG	c.(784-786)gggfs	p.G263fs	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Frame_Shift_Del_p.G263fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	263					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)		GACATGGACCGGGGGGGACTT	0.418																																						ENST00000254442.3																			0				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						c.(784-786)ggfs		WD repeat domain 7							93	101	98					18																	54358513		2203	4300	6503	SO:0001589	frameshift_variant	23335							g.chr18:54358513delG	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.784delG	18.37:g.54358513delG	ENSP00000254442:p.Gly263fs					WDR7_ENST00000357574.3_Frame_Shift_Del_p.G263fs|WDR7_ENST00000589935.1_Intron	p.G263fs	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	8	995	+			263					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Frame_Shift_Del	DEL	ENST00000254442.3	37	c.784delG	CCDS11962.1																																																																																				0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			7	468						7	468	---	---	---	---	-	54358513	G	-	54358513	7	5	113	1	0	1	0	1	0	0	0	0	17374	1116	39	0	810	0	WDR7	18	54358513	Frame_Shift_Del	DEL	G	TCGA-US-A779-01A-11D-A32N-08		54358513	23718735	99	36972											
KIAA1468	57614	broad.mit.edu	37	chr18	59919929	59919929	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacaggttgtgtggcatttgCgcgtcatgttggaccaacac	13	9	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:59919929C>T	ENST00000398130.2	+	12	1998	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	KIAA1468_ENST00000256858.6_Missense_Mutation_p.A589V	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	589										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)				GTGGCATTTGCGCGTCATGTT	0.388																																						ENST00000256858.6																			0				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						c.(1765-1767)gCg>gTg		KIAA1468							128	111	117					18																	59919929		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59919929C>T	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.1766C>T	18.37:g.59919929C>T	ENSP00000381198:p.Ala589Val					KIAA1468_ENST00000398130.2_Missense_Mutation_p.A589V	p.A589V			Q9P260	K1468_HUMAN			12	2014	+		Colorectal(73;0.186)	589						Missense_Mutation	SNP	ENST00000398130.2	37	c.1766C>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	C	34	5.376217	0.95945	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.44482	0.92;0.92	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.91635	0.802;0.999;0.998	T	0.61481	-0.7054	9	.	.	.	-14.7767	20.0621	0.97678	0.0:1.0:0.0:0.0	.	589;589;233	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	589	ENSP00000381198:A589V;ENSP00000256858:A589V	.	A	+	2	0	KIAA1468	58070909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.723000	0.84788	2.750000	0.94351	0.655000	0.94253	GCG		0.388	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		5	259	0	0	0	1	0	5	259					T	59919929	C	T	59919929	3	4	113	1	0	0	0	0	1	0	0	0	8266	768	27	1	1812	1	KIAA1468	18	59919929	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	5561416	59919929	18157319	100	36973											
OR7D4	125958	broad.mit.edu	37	chr19	9324694	9324694	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catggcgtacatcactgaggCggtggagctgctctgggaag	16	9	2	1	rs373618218		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:9324694C>T	ENST00000308682.2	-	1	848	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	274						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(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATCACTGAGGCGGTGGAGCTG	0.552																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(820-822)Gcc>Acc		olfactory receptor, family 7, subfamily D, member 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	71	63	65		820	2.4	0.4	19		65	0,8600		0,0,4300	no	missense	OR7D4	NM_001005191.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	274/313	9324694	1,13005	2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324694C>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.820G>A	19.37:g.9324694C>T	ENSP00000310488:p.Ala274Thr						p.A274T	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	848	-			274					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.820G>A	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	C	5.291	0.239022	0.10023	2.27E-4	0.0	ENSG00000174667	ENST00000308682	T	0.38077	1.16	3.49	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.112635	0.39759	N	0.001267	T	0.34395	0.0896	M	0.70842	2.15	0.09310	N	1	B	0.27765	0.188	B	0.31290	0.127	T	0.34502	-0.9826	10	0.59425	D	0.04	.	5.1087	0.14798	0.0:0.665:0.2133:0.1217	.	274	Q8NG98	OR7D4_HUMAN	T	274	ENSP00000310488:A274T	ENSP00000310488:A274T	A	-	1	0	OR7D4	9185694	0.000000	0.05858	0.371000	0.25978	0.046000	0.14306	-0.229000	0.09098	0.831000	0.34780	0.205000	0.17691	GCC		0.552	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			6	321	0	0	0	1	0	6	321					T	9324694	C	T	9324694	3	4	113	1	0	0	0	0	1	0	0	0	11262	768	27	1	122	1	OR7D4	19	9324694	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08		9324694	49804289	101	36974											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-													gctgaaggtccagaatcccgGctgctgctgctgctgctgct							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	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.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		8	312						8	312	---	---	---	---	-	11038364	GCT	-	11038362	7	5	113	1	0	1	0	1	0	0	0	0	17532	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-US-A779-01A-11D-A32N-08	1713668	11038362	48090621	102	36975											
BRD4	23476	broad.mit.edu	37	chr19	15355552	15355552	+	Frame_Shift_Del	DEL	T	T	-													ccctcccggggtgccccttcTtttttgacttcggagccatc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:15355552delT	ENST00000263377.2	-	12	2401	c.2180delA	c.(2179-2181)aagfs	p.K728fs		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	728					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)			GTGCCCCTTCTTTTTTGACTT	0.572			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2179-2181)agfs		bromodomain containing 4							126	125	126					19																	15355552		2203	4300	6503	SO:0001589	frameshift_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15355552delT	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.2180delA	19.37:g.15355552delT	ENSP00000263377:p.Lys728fs						p.K728fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		12	2401	-			728					O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	ENST00000263377.2	37	c.2180delA	CCDS12328.1																																																																																				0.572	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		7	960						7	960	---	---	---	---	-	15355552	T	-	15355552	7	5	113	1	0	1	0	1	0	0	0	0	1508	1609	56	0	1944	0	BRD4	19	15355552	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08	4317190	15355552	43773431	103	36976											
EPS15L1	58513	broad.mit.edu	37	chr19	16551706	16551706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaccctttaccttctggatcGgccaagtcccatatctgcgg	8	14	2	0	rs199918822		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:16551706G>A	ENST00000248070.6	-	4	319	c.180C>T	c.(178-180)gcC>gcT	p.A60A	EPS15L1_ENST00000535753.2_Silent_p.A60A|EPS15L1_ENST00000597937.1_Silent_p.A60A|EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000455140.2_Silent_p.A60A|CTD-2013N17.4_ENST00000587343.1_RNA	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	60	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTTCTGGATCGGCCAAGTCCC	0.522																																						ENST00000597937.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						c.(178-180)gcC>gcT		epidermal growth factor receptor pathway substrate 15-like 1							243	247	245					19																	16551706		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16551706G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.180C>T	19.37:g.16551706G>A						EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000535753.2_Silent_p.A60A|EPS15L1_ENST00000455140.2_Silent_p.A60A|EPS15L1_ENST00000248070.6_Silent_p.A60A	p.A60A	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN			4	184	-			60			EH 1.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.180C>T	CCDS32944.1																																																																																				0.522	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		7	1323	0	0	0	1	0	7	1323					A	16551706	G	A	16551706	2	1	113	1	0	0	0	0	0	0	0	1	5211	1103	39	1		1	EPS15L1	19	16551706	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1196154	16551706	42577277	104	36977											
MRPL34	64981	broad.mit.edu	37	chr19	17417119	17417119	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cacggctgggtccggcgcctGagcacgccggccggcgtgca	17	16	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17417119G>T	ENST00000252602.1	+	2	435	c.210G>T	c.(208-210)ctG>ctT	p.L70L	ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000602206.1_Nonstop_Mutation_p.*37L|MRPL34_ENST00000595444.1_Silent_p.L162L|MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L	NM_023937.3	NP_076426.1	Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	70					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)	2						TCCGGCGCCTGAGCACGCCGG	0.672																																						ENST00000602206.1																			0				endometrium(1)|lung(1)	2						c.(109-111)tGa>tTa		mitochondrial ribosomal protein L34							9	13	12					19																	17417119		2168	4231	6399	SO:0001819	synonymous_variant	64981				translation		structural constituent of ribosome	g.chr19:17417119G>T	AB049652	CCDS12356.1	19p13.1	2012-09-13						"Mitochondrial ribosomal proteins / large subunits"	14488	protein-coding gene	gene with protein product		611840				11543634	Standard	NM_023937		Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000252602.1:c.210G>T	19.37:g.17417119G>T						MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L|MRPL34_ENST00000252602.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L	p.*37L			Q9BQ48	RM34_HUMAN			2	131	+			0						Nonstop_Mutation	SNP	ENST00000252602.1	37	c.110G>T	CCDS12356.1																																																																																				0.672	MRPL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463516.1	NM_023937		18	63	1	0	1.9806e-07	1	2.05641e-07	18	63					T	17417119	G	T	17417119	2	4	113	1	0	0	0	0	0	0	0	1	9838	1277	45	3		3	MRPL34	19	17417119	Silent	SNP	G	TCGA-US-A779-01A-11D-A32N-08	865413	17417119	41711864	105	36978											
UNC13A	23025	broad.mit.edu	37	chr19	17720864	17720864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttgacctcgatgaacggccGgaagatgccagaagtctgcc	13	11	1	4			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17720864G>A	ENST00000519716.2	-	43	4695	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1654W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1566	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATGAACGGCCGGAAGATGCCA	0.517																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(4960-4962)Cgg>Tgg		unc-13 homolog A (C. elegans)							122	130	127					19																	17720864		2154	4277	6431	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17720864G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4696C>T	19.37:g.17720864G>A	ENSP00000429562:p.Arg1566Trp					UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R1566W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W	p.R1654W			Q9UPW8	UN13A_HUMAN			44	4959	-			1566					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4960C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007738	0.75046	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.84005	0.5377	M	0.89968	3.075	0.46981	D	0.999273	D	0.89917	1.0	D	0.85130	0.997	D	0.87780	0.2611	10	0.87932	D	0	-17.1577	13.9527	0.64129	0.0:0.0:1.0:0.0	.	1566	Q9UPW8	UN13A_HUMAN	W	1566;1654;1566;1585;1560;1539	ENSP00000429562:R1566W;ENSP00000400409:R1654W;ENSP00000252773:R1566W;ENSP00000447236:R1585W;ENSP00000447572:R1560W;ENSP00000446831:R1539W	ENSP00000252773:R1566W	R	-	1	2	UNC13A	17581864	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.923000	0.56469	1.869000	0.54173	0.478000	0.44815	CGG		0.517	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		8	642	0	0	0	1	0	8	642					A	17720864	G	A	17720864	3	1	113	1	0	0	0	0	1	0	0	0	17038	1115	39	1	423	1	UNC13A	19	17720864	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	303745	17720864	41408119	106	36979											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			14	1371						14	1371	---	---	---	---	-	36255949	CTC	-	36255947	7	5	113	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-US-A779-01A-11D-A32N-08	18535083	36255947	22873036	107	36980											
ZFP82	284406	broad.mit.edu	37	chr19	36884698	36884698	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaaaagtaagctgttggcGcactctgaacgccttcccac	9	12	1	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36884698G>A	ENST00000392161.3	-	5	786	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGTTGGCGCACTCTGAAC	0.438																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(544-546)Cgc>Tgc		ZFP82 zinc finger protein							98	87	91					19																	36884698		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36884698G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.544C>T	19.37:g.36884698G>A	ENSP00000431265:p.Arg182Cys					ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	786	-			182					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.544C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285544	0.40394	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.16073	2.37;2.37	4.05	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37393	N	0.002115	T	0.26991	0.0661	L	0.43646	1.37	0.22911	N	0.998579	D	0.89917	1.0	D	0.63488	0.915	T	0.01977	-1.1236	10	0.35671	T	0.21	.	10.9206	0.47163	0.0:0.0:0.8124:0.1876	.	182	Q8N141	ZFP82_HUMAN	C	182	ENSP00000431265:R182C;ENSP00000446080:R182C	ENSP00000431265:R182C	R	-	1	0	ZFP82	41576538	0.000000	0.05858	0.991000	0.47740	0.979000	0.70002	-0.345000	0.07770	2.282000	0.76494	0.655000	0.94253	CGC		0.438	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		5	286	0	0	0	1	0	5	286					A	36884698	G	A	36884698	3	1	113	1	0	0	0	0	1	0	0	0	17706	1087	38	1	1058	1	ZFP82	19	36884698	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	628751	36884698	22244285	108	36981											
NFKBIB	4793	broad.mit.edu	37	chr19	39395723	39395723	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaggcttctcggccgGcactgagtacatggacctgc	11	13	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:39395723G>A	ENST00000313582.5	+	2	282	c.248G>A	c.(247-249)gGc>gAc	p.G83D	NFKBIB_ENST00000392079.3_Missense_Mutation_p.G51D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	83					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCTCGGCCGGCACTGAGTAC	0.587																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(151-153)gGc>gAc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							164	159	161					19																	39395723		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39395723G>A	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.248G>A	19.37:g.39395723G>A	ENSP00000312988:p.Gly83Asp					NFKBIB_ENST00000313582.5_Missense_Mutation_p.G83D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D	p.G51D			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	250	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		83					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.152G>A	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	G	4.067	0.010258	0.07912	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.60424	0.19;0.69	4.94	3.91	0.45181	Ankyrin repeat-containing domain (4);	0.122338	0.37304	N	0.002151	T	0.33147	0.0853	N	0.02111	-0.68	0.09310	N	1	B;P;B	0.40107	0.409;0.703;0.409	B;B;B	0.42771	0.397;0.276;0.275	T	0.19160	-1.0314	10	0.41790	T	0.15	-22.9371	10.3219	0.43771	0.0919:0.0:0.9081:0.0	.	106;51;83	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	D	106;83;51	ENSP00000312988:G83D;ENSP00000375929:G51D	ENSP00000312988:G83D	G	+	2	0	NFKBIB	44087563	0.982000	0.34865	0.032000	0.17829	0.013000	0.08279	3.526000	0.53509	1.292000	0.44672	0.655000	0.94253	GGC		0.587	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		6	913	0	0	0	1	0	6	913					A	39395723	G	A	39395723	3	1	113	1	0	0	0	0	1	0	0	0	10420	1203	42	2	254	2	NFKBIB	19	39395723	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	2511025	39395723	19733260	109	36982											
ZNF780A	284323	broad.mit.edu	37	chr19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttacattcatatggttttaTaccagcatgaatactctgat	5	8	2	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.I415V(1)|p.I380V(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1138-1140)Ata>Gta		zinc finger protein 780A							178	182	180					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val					ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V	p.I380V			O75290	Z780A_HUMAN			6	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1138A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	966	0	0	0	1	0	6	966					C	40581109	T	C	40581109	3	2	113	1	0	0	0	0	1	0	0	0	18205	1406	49	4	816	4	ZNF780A	19	40581109	Missense_Mutation	SNP	T	TCGA-US-A779-01A-11D-A32N-08	1185386	40581109	18547874	110	36983											
PRX	57716	broad.mit.edu	37	chr19	40902713	40902713	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtacctctggaagccGcacctccggcacagccatct	9	17	2	0	rs144305922		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40902713G>A	ENST00000324001.7	-	7	1816	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	516	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCCGGC	0.592																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1546-1548)Cgg>Tgg		periaxin		G	,TRP/ARG	0,4384		0,0,2192	76	89	85		,1546	2.5	0	19	dbSNP_134	85	1,8585		0,1,4292	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,101	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,516/1462	40902713	1,12969	2192	4293	6485	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902713G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1546C>T	19.37:g.40902713G>A	ENSP00000326018:p.Arg516Trp					PRX_ENST00000291825.7_3'UTR	p.R516W	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1816	-			516			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1546C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224920	0.58668	0.0	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02015	4.5	3.58	2.5	0.30297	.	1.860880	0.03022	N	0.150861	T	0.03871	0.0109	L	0.44542	1.39	0.36058	D	0.841268	D	0.63880	0.993	P	0.44561	0.453	T	0.39781	-0.9597	10	0.72032	D	0.01	.	6.0789	0.19931	0.0:0.212:0.5698:0.2181	.	516	Q9BXM0	PRAX_HUMAN	W	516	ENSP00000326018:R516W	ENSP00000326018:R516W	R	-	1	2	PRX	45594553	0.000000	0.05858	0.032000	0.17829	0.291000	0.27294	0.126000	0.15769	0.677000	0.31305	0.313000	0.20887	CGG		0.592	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		8	1083	0	0	0	1	0	8	1083					A	40902713	G	A	40902713	3	1	113	1	0	0	0	0	1	0	0	0	12689	1086	38	1	2843	1	PRX	19	40902713	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	321604	40902713	18226270	111	36984											
EXOSC5	56915	broad.mit.edu	37	chr19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaatgccatgcaggcgGcattcagacaacaggccagg	11	14	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:41895788G>A	ENST00000221233.4	-	4	557	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	136					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						CATGCAGGCGGCATTCAGACA	0.552																																						ENST00000221233.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						c.(406-408)gCc>gTc		exosome component 5							55	55	55					19																	41895788		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41895788G>A	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.407C>T	19.37:g.41895788G>A	ENSP00000221233:p.Ala136Val					CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|BCKDHA_ENST00000595085.1_Intron	p.A136V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN			4	557	-			136					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.407C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253259	0.80135	.	.	ENSG00000077348	ENST00000221233	T	0.75938	-0.98	5.03	4.0	0.46444	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.160189	0.53938	N	0.000043	T	0.74831	0.3768	M	0.85630	2.765	0.53005	D	0.999964	P	0.46142	0.873	B	0.38378	0.272	T	0.80605	-0.1308	10	0.87932	D	0	-8.6688	12.5828	0.56399	0.0816:0.0:0.9184:0.0	.	136	Q9NQT4	EXOS5_HUMAN	V	136	ENSP00000221233:A136V	ENSP00000221233:A136V	A	-	2	0	EXOSC5	46587628	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	6.217000	0.72218	1.488000	0.48433	0.650000	0.86243	GCC		0.552	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158		5	380	0	0	0	1	0	5	380					A	41895788	G	A	41895788	3	1	113	1	0	0	0	0	1	0	0	0	5336	1203	42	2	312	2	EXOSC5	19	41895788	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	993075	41895788	17233195	112	36985											
CEACAM1	634	broad.mit.edu	37	chr19	43031337	43031337	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccgctgtttgCgggccctggggtagcttgtt	14	11	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:43031337C>T	ENST00000161559.6	-	2	414	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	94	Ig-like V-type.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CCGCTGTTTGCGGGCCCTGGG	0.488																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)						318	269	285					19																	43031337		2203	4300	6503	SO:0001583	missense	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43031337C>T	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.280G>A	19.37:g.43031337C>T	ENSP00000161559:p.Ala94Thr					CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594624.2_RNA	p.A94T	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	2	414	-		Prostate(69;0.00682)	94			Ig-like V-type.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Missense_Mutation	SNP	ENST00000161559.6	37	c.280G>A	CCDS12609.1	.	.	.	.	.	.	.	.	.	.	c	17.48	3.399601	0.62177	.	.	ENSG00000079385	ENST00000161559;ENST00000358394;ENST00000351134;ENST00000446434;ENST00000378065;ENST00000352591;ENST00000403444;ENST00000403461;ENST00000308072;ENST00000377806;ENST00000344391;ENST00000403136	T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.41	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75324	0.3834	M	0.83953	2.67	0.09310	N	1	D;D;B;P;P;P;P;P;D;P	0.59767	0.972;0.986;0.399;0.648;0.777;0.604;0.686;0.862;0.959;0.936	P;P;B;B;P;B;P;P;P;P	0.58210	0.593;0.835;0.241;0.296;0.506;0.407;0.597;0.628;0.689;0.745	T	0.65998	-0.6032	9	0.66056	D	0.02	.	11.6699	0.51395	0.0:0.5466:0.4534:0.0	.	94;94;94;94;94;94;94;94;94;94	P13688-7;P13688-10;P13688-3;P13688-4;P13688-2;P13688-11;P13688-6;P13688-5;P13688-8;P13688	.;.;.;.;.;.;.;.;.;CEAM1_HUMAN	T	94;94;94;121;54;94;94;94;54;94;94;94	ENSP00000161559:A94T;ENSP00000351165:A94T;ENSP00000325946:A94T;ENSP00000244291:A94T;ENSP00000384709:A94T;ENSP00000384083:A94T;ENSP00000312184:A54T	ENSP00000161559:A94T	A	-	1	0	CEACAM1	47723177	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.054000	0.11826	0.425000	0.26087	0.561000	0.74099	GCA		0.488	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		9	1068	0	0	0	1	0	9	1068					T	43031337	C	T	43031337	3	4	113	1	0	0	0	0	1	0	0	0	3196	768	27	1	1429	1	CEACAM1	19	43031337	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	1135549	43031337	16097646	113	36986											
HIF3A	64344	broad.mit.edu	37	chr19	46825050	46825050	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagacacccctggcccccggAtccttgccttcctgcacccg	8	21	0	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:46825050A>G	ENST00000377670.4	+	10	1193	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000339613.2_Missense_Mutation_p.I332V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	388					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)		TGGCCCCCGGATCCTTGCCTT	0.682																																						ENST00000339613.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33						c.(994-996)Atc>Gtc		hypoxia inducible factor 3, alpha subunit							55	67	63					19																	46825050		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825050A>G	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.1162A>G	19.37:g.46825050A>G	ENSP00000366898:p.Ile388Val					HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000377670.4_Missense_Mutation_p.I388V|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V	p.I332V			Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1249	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	388					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.994A>G	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.499|6.499	0.460253|0.460253	0.12342|0.12342	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.64803	.|0.63;-0.11;0.51;0.63;-0.12	4.43|4.43	3.42|3.42	0.39159|0.39159	.|.	.|1.554280	.|0.03882	.|N	.|0.277189	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.24115|0.24115	0.695|0.695	0.24933|0.24933	N|N	0.991907|0.991907	.|B;B;B;P;B;B;B	.|0.48350	.|0.074;0.048;0.119;0.909;0.073;0.073;0.024	.|B;B;B;P;B;B;B	.|0.48304	.|0.062;0.048;0.067;0.573;0.031;0.031;0.01	T|T	0.43686|0.43686	-0.9376|-0.9376	5|10	.|0.11182	.|T	.|0.66	.|.	6.4511|6.4511	0.21903|0.21903	0.8903:0.0:0.1097:0.0|0.8903:0.0:0.1097:0.0	.|.	.|337;319;386;337;332;388;388	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	G|V	360|388;388;319;332;332;386;337	.|ENSP00000366898:I388V;ENSP00000244303:I319V;ENSP00000341877:I332V;ENSP00000300862:I386V;ENSP00000407771:I337V	.|ENSP00000244302:I388V	D|I	+|+	2|1	0|0	HIF3A|HIF3A	51516890|51516890	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	0.753000|0.753000	0.26376|0.26376	0.874000|0.874000	0.35823|0.35823	0.533000|0.533000	0.62120|0.62120	GAT|ATC		0.682	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			211	560	0	0	0	1	0	211	560					G	46825050	A	G	46825050	3	3	113	1	0	0	0	0	1	0	0	0	7135	333	12	4	1224	4	HIF3A	19	46825050	Missense_Mutation	SNP	A	TCGA-US-A779-01A-11D-A32N-08	3793713	46825050	12303933	114	36987											
CNOT3	4849	broad.mit.edu	37	chr19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggaagatggcggacaagcGcaaactccaaggtactagac	13	9	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					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)					GCGGACAAGCGCAAACTCCAA	0.527																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(13-15)cGc>cAc		CCR4-NOT transcription complex, subunit 3							196	161	173					19																	54646728		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646728G>A	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.14G>A	19.37:g.54646728G>A	ENSP00000383954:p.Arg5His					CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H	p.R5H			O75175	CNOT3_HUMAN			1	1617	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		5					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.14G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051461	0.93793	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.73363	-0.74;-0.74	4.87	4.87	0.63330	Not CCR4-Not complex component, N-terminal (1);	0.135232	0.48286	D	0.000197	D	0.88328	0.6407	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90703	0.4622	10	0.87932	D	0	-24.7136	15.3142	0.74059	0.0:0.0:1.0:0.0	.	5;5	B7Z6J7;O75175	.;CNOT3_HUMAN	H	5	ENSP00000221232:R5H;ENSP00000383954:R5H	ENSP00000221232:R5H	R	+	2	0	CNOT3	59338540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	CGC		0.527	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		6	523	0	0	0	1	0	6	523					A	54646728	G	A	54646728	3	1	113	1	0	0	0	0	1	0	0	0	3629	1087	38	1	16	1	CNOT3	19	54646728	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	7821678	54646728	4482255	115	36988											
LAIR1	3903	broad.mit.edu	37	chr19	54872775	54872775	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atggctccccagggggatcaCggtgcctggctcagccgaga	15	13	2	1	rs202185118		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54872775C>T	ENST00000391742.2	-	3	264	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000391743.3_Missense_Mutation_p.V20M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38	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)		AGGGGGATCACGGTGCCTGGC	0.582																																						ENST00000391743.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26						c.(58-60)Gtg>Atg		leukocyte-associated immunoglobulin-like receptor 1		C	MET/VAL,MET/VAL	2,4404		0,2,2201	100	106	104		112,112	-1.8	0	19		104	1,8599		0,1,4299	yes	missense,missense	LAIR1	NM_002287.3,NM_021706.2	21,21	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign	38/288,38/271	54872775	3,13003	2203	4300	6503	SO:0001583	missense	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54872775C>T	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.112G>A	19.37:g.54872775C>T	ENSP00000375622:p.Val38Met					LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391742.2_Missense_Mutation_p.V38M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M	p.V20M			Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	2	338	-	Ovarian(34;0.19)		38						Missense_Mutation	SNP	ENST00000391742.2	37	c.58G>A	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	.	13.40	2.225204	0.39300	4.54E-4	1.16E-4	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;5.55	3.16	-1.77	0.07982	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.038110	0.07680	N	0.936945	T	0.22781	0.0550	M	0.72353	2.195	0.09310	N	1	P;B;B;P;P;P	0.49696	0.628;0.448;0.436;0.927;0.626;0.673	B;B;B;P;B;B	0.52554	0.267;0.266;0.118;0.702;0.097;0.323	T	0.28396	-1.0045	10	0.35671	T	0.21	.	6.5499	0.22427	0.0:0.5255:0.0:0.4745	.	38;20;37;37;38;38	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	M	20;38;37;38;31;37;32	ENSP00000375623:V20M;ENSP00000375622:V38M;ENSP00000391003:V37M;ENSP00000301193:V38M;ENSP00000319204:V31M;ENSP00000418998:V37M;ENSP00000392058:V32M	ENSP00000319204:V31M	V	-	1	0	LAIR1	59564587	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.630000	0.05502	-0.205000	0.10219	-0.210000	0.12710	GTG		0.582	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1			11	636	0	0	0	1	0	11	636					T	54872775	C	T	54872775	3	4	113	1	0	0	0	0	1	0	0	0	8633	536	19	1	783	1	LAIR1	19	54872775	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	226047	54872775	4256208	116	36989											
BRSK1	84446	broad.mit.edu	37	chr19	55814225	55814225	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctgcatcgcgagctgCgcagtgaggagtaagacccc	15	11	0	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:55814225C>T	ENST00000309383.1	+	10	1295	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	340	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGCGAGCTGCGCAGTGAGGA	0.662																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1018-1020)Cgc>Tgc		BR serine/threonine kinase 1							56	44	48					19																	55814225		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814225C>T	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1018C>T	19.37:g.55814225C>T	ENSP00000310649:p.Arg340Cys					BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C	p.R340C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	10	1295	+		Renal(1328;0.245)	340			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1018C>T	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.256628	0.59321	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72167	-0.63;1.95	4.69	3.62	0.41486	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.301128	0.28865	N	0.013882	T	0.66157	0.2761	N	0.08118	0	0.49483	D	0.999797	D;D	0.71674	0.996;0.998	P;P	0.61201	0.771;0.885	T	0.72620	-0.4238	10	0.72032	D	0.01	.	13.1288	0.59369	0.1618:0.8382:0.0:0.0	.	340;356	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	340;35;35	ENSP00000310649:R340C;ENSP00000320853:R35C	ENSP00000310649:R340C	R	+	1	0	BRSK1	60506037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.281000	0.43452	1.075000	0.40932	0.655000	0.94253	CGC		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		67	188	0	0	0	1	0	67	188					T	55814225	C	T	55814225	3	4	113	1	0	0	0	0	1	0	0	0	1527	768	27	1	1056	1	BRSK1	19	55814225	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	941450	55814225	3314758	117	36990											
NLRP8	126205	broad.mit.edu	37	chr19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaggtctgtgtcacttggccGcagacagcatgtggcacagg	14	10	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	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)		TCACTTGGCCGCAGACAGCAT	0.498																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1375-1377)Gca>Aca		NLR family, pyrin domain containing 8							108	101	104					19																	56466799		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466799G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr					NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1446	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	459			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1375G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		7	555	0	0	0	1	0	7	555					A	56466799	G	A	56466799	3	1	113	1	0	0	0	0	1	0	0	0	10525	1087	38	1	1385	1	NLRP8	19	56466799	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	652574	56466799	2662184	118	36991											
BFSP1	631	broad.mit.edu	37	chr20	17474884	17474884	+	Frame_Shift_Del	DEL	T	T	-													gccaaagccttgggagggccTttttctggcaggcttctgct							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:17474884delT	ENST00000377873.3	-	8	1872	c.1833delA	c.(1831-1833)aaafs	p.K611fs	BFSP1_ENST00000544874.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000536626.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.K486fs	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	611	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TGGGAGGGCCTTTTTCTGGCA	0.527																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1831-1833)aafs		beaded filament structural protein 1, filensin							112	115	114					20																	17474884		2203	4300	6503	SO:0001589	frameshift_variant	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17474884delT	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"Intermediate filaments type VI, eye lens intermediate filaments"	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1833delA	20.37:g.17474884delT	ENSP00000367104:p.Lys611fs					BFSP1_ENST00000544874.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000536626.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.K486fs	p.K611fs	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			8	1872	-			611			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Frame_Shift_Del	DEL	ENST00000377873.3	37	c.1833delA	CCDS13126.1																																																																																				0.527	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		7	775						7	775	---	---	---	---	-	17474884	T	-	17474884	7	5	113	1	0	1	0	1	0	0	0	0	1417	1606	56	0	168	0	BFSP1	20	17474884	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08		17474884	45550636	119	36992											
PCK1	5105	broad.mit.edu	37	chr20	56138146	56138146	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgcccacctgcctgacCgcagagagatcatctccttt	7	16	3	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:56138146C>T	ENST00000319441.4	+	5	837	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Missense_Mutation_p.R93C	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	225					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)			CCTGCCTGACCGCAGAGAGAT	0.622																																						ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(673-675)Cgc>Tgc		phosphoenolpyruvate carboxykinase 1 (soluble)							72	74	73					20																	56138146		2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56138146C>T		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.673C>T	20.37:g.56138146C>T	ENSP00000319814:p.Arg225Cys					PCK1_ENST00000535860.1_Missense_Mutation_p.R93C|PCK1_ENST00000543666.1_Intron	p.R225C	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		5	837	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		225					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.673C>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369151	0.95900	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.04406	3.63;3.63	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.152325	0.56097	D	0.000028	T	0.12603	0.0306	L	0.43152	1.355	0.80722	D	1	D	0.54772	0.968	P	0.54856	0.762	T	0.00697	-1.1605	10	0.66056	D	0.02	-30.42	18.803	0.92025	0.0:1.0:0.0:0.0	.	225	P35558	PCKGC_HUMAN	C	225;93	ENSP00000319814:R225C;ENSP00000444342:R93C	ENSP00000319814:R225C	R	+	1	0	PCK1	55571552	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.333000	0.79214	2.520000	0.84964	0.655000	0.94253	CGC		0.622	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			6	450	0	0	0	1	0	6	450					T	56138146	C	T	56138146	3	4	113	1	0	0	0	0	1	0	0	0	11623	652	23	1	687	1	PCK1	20	56138146	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	38663262	56138146	6887374	120	36993											
ZNF831	128611	broad.mit.edu	37	chr20	57768280	57768280	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatcccctgcactgggtGgcagagacagtccctgttca	11	13	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:57768280G>C	ENST00000371030.2	+	1	2206	c.2206G>C	c.(2206-2208)Ggc>Cgc	p.G736R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	736							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)					TGCACTGGGTGGCAGAGACAG	0.627																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2206-2208)Ggc>Cgc		zinc finger protein 831							19	23	21					20																	57768280		2021	4174	6195	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768280G>C	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.2206G>C	20.37:g.57768280G>C	ENSP00000360069:p.Gly736Arg						p.G736R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2206	+	all_lung(29;0.0085)		736					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2206G>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.951969	0.34471	.	.	ENSG00000124203	ENST00000371030	T	0.04275	3.66	5.08	-4.76	0.03229	.	0.547276	0.17694	N	0.165163	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	P	0.49961	0.93	P	0.48030	0.564	T	0.39881	-0.9592	10	0.48119	T	0.1	-2.5812	6.2258	0.20708	0.3917:0.0:0.4426:0.1657	.	736	Q5JPB2	ZN831_HUMAN	R	736	ENSP00000360069:G736R	ENSP00000360069:G736R	G	+	1	0	ZNF831	57201675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.311000	0.08124	-0.793000	0.04475	0.643000	0.83706	GGC		0.627	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		3	51	0	0	0	1	0	3	51					C	57768280	G	C	57768280	3	2	113	1	0	0	0	0	1	0	0	0	18238	1348	47	5	2208	5	ZNF831	20	57768280	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1630134	57768280	5257240	121	36994											
CBR3	874	broad.mit.edu	37	chr21	37510175	37510175	+	Frame_Shift_Del	DEL	T	T	-													gagatgacactgaagacaaaTttttttgccactagaaacat							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:37510175delT	ENST00000290354.5	+	2	623	c.342delT	c.(340-342)aatfs	p.N114fs	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608622.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	114					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TGAAGACAAATTTTTTTGCCA	0.408																																						ENST00000290354.5																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(340-342)aafs		carbonyl reductase 3							158	149	152					21																	37510175		2203	4300	6503	SO:0001589	frameshift_variant	874					cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding	g.chr21:37510175delT	AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	1549	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 21C, member 2"	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.342delT	21.37:g.37510175delT	ENSP00000290354:p.Asn114fs					CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA	p.N114fs	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN			2	623	+			114					Q6FHP2	Frame_Shift_Del	DEL	ENST00000290354.5	37	c.342delT	CCDS13642.1																																																																																				0.408	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1			7	631						7	631	---	---	---	---	-	37510175	T	-	37510175	7	5	113	1	0	1	0	1	0	0	0	0	2716	1490	52	0	348	0	CBR3	21	37510175	Frame_Shift_Del	DEL	T	TCGA-US-A779-01A-11D-A32N-08		37510175	10619720	122	36995											
AIRE	326	broad.mit.edu	37	chr21	45710997	45710997	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagaatgaggacgagtgtgCcgtgtgtcgggacggcgggg	21	6	0	2			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:45710997C>T	ENST00000291582.5	+	8	1026	c.899C>T	c.(898-900)gCc>gTc	p.A300V	AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	300					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)	p.A103V(1)|p.A300V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GACGAGTGTGCCGTGTGTCGG	0.657									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													ENST00000291582.5																			2	Substitution - Missense(2)	p.A103V(1)|p.A300V(1)	kidney(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14						c.(898-900)gCc>gTc		autoimmune regulator							99	83	89					21																	45710997		2203	4300	6503	SO:0001583	missense	326	Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45710997C>T	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.899C>T	21.37:g.45710997C>T	ENSP00000291582:p.Ala300Val					AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V	p.A300V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	8	1026	+			300					B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.899C>T	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920439	0.52653	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D;D	0.94497	-3.44;-3.44;-3.44	3.86	2.96	0.34315	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	0.44902	D	0.000411	D	0.93536	0.7937	N	0.21142	0.635	0.52099	D	0.999946	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.91753	0.5414	10	0.48119	T	0.1	-32.3727	8.9219	0.35617	0.2232:0.7768:0.0:0.0	.	103;300	B2RP50;O43918	.;AIRE_HUMAN	V	300;103;103;93;93	ENSP00000291582:A300V;ENSP00000347505:A93V;ENSP00000331055:A93V	ENSP00000291582:A300V	A	+	2	0	AIRE	44535425	1.000000	0.71417	0.089000	0.20774	0.196000	0.23810	6.738000	0.74822	0.725000	0.32318	0.462000	0.41574	GCC		0.657	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			7	487	0	0	0	1	0	7	487					T	45710997	C	T	45710997	3	4	113	1	0	0	0	0	1	0	0	0	437	739	26	2	1217	2	AIRE	21	45710997	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	8200822	45710997	2418898	123	36996											
C22orf36	2678	broad.mit.edu	37	chr22	24982154	24982154	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcgtcagtcggttgccGttgagcaggagctgggtgag	18	10	1	2	rs200740419		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:24982154G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Silent_p.N216N|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GTCGGTTGCCGTTGAGCAGGA	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		18370	0.001		0.0	False		,,,				2504	0.0					ENST00000318753.8																			0											c.(646-648)aaC>aaT		family with sequence similarity 211, member B							75	88	84					22																	24982154		2152	4258	6410	SO:0001627	intron_variant	388886							g.chr22:24982154G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2378G>A	22.37:g.24982154G>A						GGT1_ENST00000248923.4_Intron	p.N216N	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	671	-			216					Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.648C>T	CCDS42992.1																																																																																				0.652	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		8	547	0	0	0	1	0	8	547					A	24982154	G	A	24982154	1	1	113	0	1	0	0	0	0	0	0	0	2153	1136	40	1		1	C22orf36	22	24982154	Intron	SNP	G	TCGA-US-A779-01A-11D-A32N-08		24982154	26322412	124	36997											
RBM9	23543	broad.mit.edu	37	chr22	36205927	36205927	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgctcaccggtctggccgGcatagtcttgagtgtgtggc	14	10	3	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:36205927G>A	ENST00000438146.2	-	3	361	c.362C>T	c.(361-363)gCc>gTc	p.A121V	RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000405409.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	61	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						GGTCTGGCCGGCATAGTCTTG	0.542																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(151-153)gCc>gTc		RNA binding protein, fox-1 homolog (C. elegans) 2							248	211	224					22																	36205927		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36205927G>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"RNA binding motif (RRM) containing"	9906	protein-coding gene	gene with protein product	"hexaribonucleotide binding protein 2"	612149	"RNA binding motif protein 9"	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.362C>T	22.37:g.36205927G>A	ENSP00000413035:p.Ala121Val					RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A121V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V	p.A51V	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			2	520	-			61					A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.152C>T	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778134	0.96929	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T	0.52754	1.44;1.26;0.69;0.99;1.38;0.95;0.65;1.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.54323	1.7	0.54753	D	0.999982	D;D;D;D;P;D;D;P;P;D	0.67145	0.996;0.974;0.975;0.975;0.939;0.996;0.995;0.913;0.925;0.974	P;P;P;P;B;D;P;P;P;P	0.70935	0.874;0.72;0.647;0.647;0.376;0.971;0.885;0.614;0.644;0.595	T	0.67070	-0.5763	10	0.87932	D	0	.	20.0065	0.97435	0.0:0.0:1.0:0.0	.	31;61;121;121;51;51;51;51;51;31	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	V	51;61;51;51;51;31;31;51;121;73;31	ENSP00000384944:A51V;ENSP00000407855:A51V;ENSP00000391670:A51V;ENSP00000380470:A31V;ENSP00000352328:A31V;ENSP00000405651:A51V;ENSP00000413035:A121V;ENSP00000386177:A73V	ENSP00000262829:A51V	A	-	2	0	RBFOX2	34535873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.346000	0.90060	2.713000	0.92767	0.655000	0.94253	GCC		0.542	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			7	1049	0	0	0	1	0	7	1049					A	36205927	G	A	36205927	3	1	113	1	0	0	0	0	1	0	0	0	13197	1203	42	2	1051	2	RBM9	22	36205927	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	11223773	36205927	15098639	125	36998											
ZC3H7B	23264	broad.mit.edu	37	chr22	41742053	41742053	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tacggggataactgcaccttCgcctaccatcaggaggagat	11	11	1	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:41742053C>T	ENST00000352645.4	+	14	1763	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	ZC3H7B_ENST00000351589.4_Silent_p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	518					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						ACTGCACCTTCGCCTACCATC	0.607																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1504-1506)ttC>ttT		zinc finger CCCH-type containing 7B							197	167	177					22																	41742053		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41742053C>T		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1506C>T	22.37:g.41742053C>T						ZC3H7B_ENST00000351589.4_Silent_p.F502F	p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			14	1763	+			518					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.1506C>T	CCDS14013.1																																																																																				0.607	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		32	988	0	0	0	1	0	32	988					T	41742053	C	T	41742053	2	4	113	1	0	0	0	0	0	0	0	1	17626	883	31	1		1	ZC3H7B	22	41742053	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08	5536126	41742053	9562513	126	36999											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	12	14	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83	76	79					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"	601304	"non-histone chromosome protein 2 (S. cerevisiae)-like 1", "sperm specific antigen 1"	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C	p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		6	567	0	0	0	1	0	6	567					A	42071074	G	A	42071074	3	1	113	1	0	0	0	0	1	0	0	0	10452	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	329021	42071074	9233492	127	37000											
PLXNB2	23654	broad.mit.edu	37	chr22	50716129	50716129	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gcacgtcaaagatgaagtggGggttcttgaggatgttcacc	14	7	3	3			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:50716129G>C	ENST00000449103.1	-	33	5227	c.5087C>G	c.(5086-5088)cCc>cGc	p.P1696R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R			O15031	PLXB2_HUMAN	plexin B2	1696					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)		GATGAAGTGGGGGTTCTTGAG	0.627																																						ENST00000449103.1																			0				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						c.(5086-5088)cCc>cGc		plexin B2							66	74	72					22																	50716129		2134	4260	6394	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716129G>C		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.5087C>G	22.37:g.50716129G>C	ENSP00000409171:p.Pro1696Arg					PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R	p.P1696R			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	33	5227	-		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)	1696					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.5087C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515467	0.85389	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.70045	-0.45;-0.45	4.21	4.21	0.49690	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.084908	0.50627	D	0.000119	D	0.85265	0.5657	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89427	0.3714	10	0.87932	D	0	.	16.7466	0.85474	0.0:0.0:1.0:0.0	.	1696	O15031	PLXB2_HUMAN	R	1696;1696;326	ENSP00000409171:P1696R;ENSP00000352288:P1696R	ENSP00000352288:P1696R	P	-	2	0	PLXNB2	49058256	1.000000	0.71417	0.948000	0.38648	0.954000	0.61252	9.181000	0.94874	2.170000	0.68504	0.491000	0.48974	CCC		0.627	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		76	294	0	0	0	1	0	76	294					C	50716129	G	C	50716129	3	2	113	1	0	0	0	0	1	0	0	0	12166	1232	43	5	449	5	PLXNB2	22	50716129	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	8645055	50716129	588437	128	37001											
CPT1B	1375	broad.mit.edu	37	chr22	51015372	51015372	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcttcagggtttggcGgaagaagaagatgcccgtca	14	8	2	3	rs569675787		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:51015372G>A	ENST00000360719.2	-	4	510	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	125					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)		AGGGTTTGGCGGAAGAAGAAG	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)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(373-375)Cgc>Tgc		carnitine palmitoyltransferase 1B (muscle)							132	137	135					22																	51015372		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51015372G>A	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.373C>T	22.37:g.51015372G>A	ENSP00000353945:p.Arg125Cys		OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	974	CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C	p.R125C	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	4	510	-		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)	125					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.373C>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169032	0.78339	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000395650;ENST00000417176	D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.97110	0.997;0.852;1.0	D	0.92986	0.6410	10	0.87932	D	0	-26.6824	16.7373	0.85449	0.0:0.0:1.0:0.0	.	125;125;125	E9PCP2;B7Z4U4;Q92523	.;.;CPT1B_HUMAN	C	125	ENSP00000385486:R125C;ENSP00000312189:R125C;ENSP00000353945:R125C;ENSP00000409342:R125C;ENSP00000414713:R125C;ENSP00000379011:R125C;ENSP00000406316:R125C	ENSP00000312189:R125C	R	-	1	0	CPT1B	49362238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.561000	0.86390	0.561000	0.74099	CGC		0.587	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		5	615	0	0	0	1	0	5	615					A	51015372	G	A	51015372	3	1	113	1	0	0	0	0	1	0	0	0	3841	1116	39	1	2009	1	CPT1B	22	51015372	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	299243	51015372	289194	129	37002											
SCML1	6322	broad.mit.edu	37	chrX	17770059	17770059	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acagatcctcttgcattatgCcctcttgtcgacctcttcag	6	14	4	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:17770059C>T	ENST00000380041.3	+	7	1156	c.828C>T	c.(826-828)tgC>tgT	p.C276C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380043.3_Silent_p.C249C	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448																																						ENST00000380043.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10						c.(745-747)tgC>tgT		sex comb on midleg-like 1 (Drosophila)							377	317	337					X																	17770059		2203	4300	6503	SO:0001819	synonymous_variant	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17770059C>T		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"Sterile alpha motif (SAM) domain containing"	10580	protein-coding gene	gene with protein product		300227	"sex comb on midleg (Drosophila)-like 1"			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.828C>T	X.37:g.17770059C>T						SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	p.C249C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN			6	1075	+	Hepatocellular(33;0.183)		276					B0FZN6|B2RA08|Q5H968|Q5H969	Silent	SNP	ENST00000380041.3	37	c.747C>T	CCDS35210.1																																																																																				0.448	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		7	1379	0	0	0	1	0	7	1379					T	17770059	C	T	17770059	2	4	113	1	0	0	0	0	0	0	0	1	13959	747	26	2		2	SCML1	23	17770059	Silent	SNP	C	TCGA-US-A779-01A-11D-A32N-08		17770059	137500501	130	37003											
BEND2	139105	broad.mit.edu	37	chrX	18183254	18183254	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gacgtcatgtctaaggctacGgataccgctgttgatggagg	14	8	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:18183254G>A	ENST00000380033.4	-	14	2407	c.2275C>T	c.(2275-2277)Cgt>Tgt	p.R759C		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	759	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTAAGGCTACGGATACCGCTG	0.517																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(2275-2277)Cgt>Tgt		BEN domain containing 2							197	173	181					X																	18183254		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18183254G>A	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.2275C>T	X.37:g.18183254G>A	ENSP00000369372:p.Arg759Cys						p.R759C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			14	2407	-			759			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2275C>T	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879159	0.51801	.	.	ENSG00000177324	ENST00000380033	T	0.52295	0.67	5.69	1.73	0.24493	BEN domain (2);	0.351432	0.26065	N	0.026542	T	0.34774	0.0909	L	0.52759	1.655	0.09310	N	1	D	0.53151	0.958	B	0.39027	0.288	T	0.32719	-0.9896	10	0.87932	D	0	-1.0766	5.6482	0.17602	0.2622:0.138:0.5998:0.0	.	759	Q8NDZ0	BEND2_HUMAN	C	759	ENSP00000369372:R759C	ENSP00000369372:R759C	R	-	1	0	BEND2	18093175	0.107000	0.21998	0.000000	0.03702	0.028000	0.11728	0.794000	0.26958	-0.077000	0.12752	-0.268000	0.10319	CGT		0.517	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		215	729	0	0	0	1	0	215	729					A	18183254	G	A	18183254	3	1	113	1	0	0	0	0	1	0	0	0	1399	1116	39	1	128	1	BEND2	23	18183254	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	413195	18183254	137087306	131	37004											
KDM6A	7403	broad.mit.edu	37	chrX	44929370	44929371	+	Frame_Shift_Ins	INS	-	-	C													ttcaccatcttcagccatttINScaacagcaacaccttctcca							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:44929370_44929371insC	ENST00000377967.4	+	17	2511_2512	c.2470_2471insC	c.(2470-2472)tcafs	p.S824fs	KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.S745fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.S779fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.S831fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	824	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCAGCCATTTCAACAGCAACA	0.45			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"D, N, F, S"	"lysine (K)-specific demethylase 6A, UTX"			"E, L"			"renal, oesophageal SCC, MM"		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2470-2472)aacfs		lysine (K)-specific demethylase 6A																																				SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929370_44929371insC	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.2471dupC	X.37:g.44929371_44929371dupC	ENSP00000367203:p.Ser824fs					KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.N831fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.N745fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.N779fs	p.N824fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			17	2511_2512	+			824					Q52LL9|Q5JVQ7	Frame_Shift_Ins	INS	ENST00000377967.4	37	c.2470_2471insC	CCDS14265.1																																																																																				0.45	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		28	147						28	147	---	---	---	---	C	44929371	-	C	44929370	7	5	113	1	0	1	1	0	0	0	0	0	8167	1783	62	0	2536	0	KDM6A	23	44929370	Frame_Shift_Ins	INS	-	TCGA-US-A779-01A-11D-A32N-08	26746116	44929370	110341190	132	37005											
USP51	158880	broad.mit.edu	37	chrX	55515068	55515068	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgagggcggggcttgCggcgcgggcaaacgggcgag	24	10	0	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:55515068C>T	ENST00000500968.3	-	2	387	c.305G>A	c.(304-306)cGc>cAc	p.R102H	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	102	Pro-rich.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						gcggggCTTGCGGCGCGGGCA	0.761																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(304-306)cGc>cAc		ubiquitin specific peptidase 51							6	7	7					X																	55515068		2137	4143	6280	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55515068C>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.305G>A	X.37:g.55515068C>T	ENSP00000423333:p.Arg102His					USP51_ENST00000586165.1_Intron	p.R102H	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	387	-			102			Pro-rich.		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.305G>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.283264	0.23392	.	.	ENSG00000247746	ENST00000500968	T	0.10192	2.9	2.65	1.75	0.24633	.	0.980712	0.08228	U	0.978061	T	0.10252	0.0251	N	0.24115	0.695	0.26858	N	0.968015	P	0.52170	0.951	P	0.47044	0.535	T	0.29912	-0.9996	10	0.87932	D	0	.	6.2296	0.20728	0.2943:0.7057:0.0:0.0	.	102	Q70EK9	UBP51_HUMAN	H	102	ENSP00000423333:R102H	ENSP00000423333:R102H	R	-	2	0	USP51	55531793	0.994000	0.37717	0.972000	0.41901	0.020000	0.10135	0.821000	0.27338	0.514000	0.28300	0.502000	0.49764	CGC		0.761	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		4	76	0	0	0	1	0	4	76					T	55515068	C	T	55515068	3	4	113	1	0	0	0	0	1	0	0	0	17137	768	27	1	1834	1	USP51	23	55515068	Missense_Mutation	SNP	C	TCGA-US-A779-01A-11D-A32N-08	10585698	55515068	99755492	133	37006											
FAM155B	27112	broad.mit.edu	37	chrX	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-													cggccgagttcccctccgccAaaaaaaacttgctcaaaggc							TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aaafs	p.K184fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(547-549)aafs		family with sequence similarity 155, member B							42	43	43					X																	68725672		2203	4300	6503	SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725672delA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.547delA	X.37:g.68725672delA	ENSP00000252338:p.Lys184fs						p.K184fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	589	+			184					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Del	DEL	ENST00000252338.4	37	c.547delA	CCDS35317.1																																																																																				0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		10	457						10	457	---	---	---	---	-	68725672	A	-	68725672	7	5	113	1	0	1	0	1	0	0	0	0	5487	131	5	0	549	0	FAM155B	23	68725672	Frame_Shift_Del	DEL	A	TCGA-US-A779-01A-11D-A32N-08	13210604	68725672	86544888	134	37007											
TAF1	6872	broad.mit.edu	37	chrX	70603864	70603864	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggagagatgttttttatgcGcacacctcaggacctcacag	10	10	2	1			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:70603864G>A	ENST00000373790.4	+	13	2048	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H	TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000449580.1_Missense_Mutation_p.R666H|TAF1_ENST00000276072.3_Missense_Mutation_p.R687H	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	666	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)				TTTTTTATGCGCACACCTCAG	0.453																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1996-1998)cGc>cAc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							220	177	192					X																	70603864		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603864G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1997G>A	X.37:g.70603864G>A	ENSP00000362895:p.Arg666His					TAF1_ENST00000373790.4_Missense_Mutation_p.R666H|TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000276072.3_Missense_Mutation_p.R687H	p.R666H			P21675	TAF1_HUMAN			13	2048	+	Renal(35;0.156)	all_lung(315;0.000321)	666					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1997G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	32	5.171413	0.94807	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10960	2.82;2.89;2.87;2.82	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.04140	-1.0974	10	0.87932	D	0	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	666;687	P21675;P21675-2	TAF1_HUMAN;.	H	666;666;687;687	ENSP00000362895:R666H;ENSP00000389000:R666H;ENSP00000406549:R687H;ENSP00000276072:R687H	ENSP00000276072:R687H	R	+	2	0	TAF1	70520589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.474000	0.83562	0.600000	0.82982	CGC		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		5	557	0	0	0	1	0	5	557					A	70603864	G	A	70603864	3	1	113	1	0	0	0	0	1	0	0	0	15565	1087	38	1	2110	1	TAF1	23	70603864	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	1878192	70603864	84666696	135	37008											
ALG13	79868	broad.mit.edu	37	chrX	110980099	110980099	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtatctccacctacacacgGcaggccaggtaggttattag	10	11	1	0			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:110980099G>A	ENST00000394780.3	+	23	2699	c.2687G>A	c.(2686-2688)gGc>gAc	p.G896D	ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	896	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCTACACACGGCAGGCCAGGT	0.433																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(2686-2688)gGc>gAc		ALG13, UDP-N-acetylglucosaminyltransferase subunit							200	173	181					X																	110980099		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110980099G>A	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.2687G>A	X.37:g.110980099G>A	ENSP00000378260:p.Gly896Asp					ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	p.G896D	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			23	2699	+			896			Pro-rich.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.2687G>A	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841823	0.32513	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.33865	1.39;3.01	5.49	2.7	0.31948	.	0.548871	0.20332	N	0.094419	T	0.48150	0.1484	L	0.58101	1.795	0.09310	N	1	B;B;D	0.67145	0.082;0.049;0.996	B;B;P	0.62184	0.04;0.018;0.899	T	0.33085	-0.9882	10	0.28530	T	0.3	1.5933	10.6013	0.45369	0.2322:0.0:0.7678:0.0	.	818;896;792	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	792;896;529	ENSP00000251943:G792D;ENSP00000378260:G896D	ENSP00000251943:G792D	G	+	2	0	ALG13	110866755	0.055000	0.20627	0.049000	0.19019	0.885000	0.51271	0.494000	0.22467	0.596000	0.29794	0.600000	0.82982	GGC		0.433	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		6	819	0	0	0	1	0	6	819					A	110980099	G	A	110980099	3	1	113	1	0	0	0	0	1	0	0	0	515	1203	42	2	2919	2	ALG13	23	110980099	Missense_Mutation	SNP	G	TCGA-US-A779-01A-11D-A32N-08	40376235	110980099	44290461	136	37009											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-													ctcagatccgggctggttcgGgcggcggcggcggctctgca					rs7877654	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	1221						7	1221	---	---	---	---	-	149937528	GGC	-	149937526	7	5	113	1	0	1	0	1	0	0	0	0	3060	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-US-A779-01A-11D-A32N-08	38957427	149937526	5333034	137	37010											
GABRD	2563	broad.mit.edu	37	chr1	1961076	1961076	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagccatcaaggcactggacGtctacttctggatctgctat	9	12	4	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:1961076G>A	ENST00000378585.4	+	8	1017	c.934G>A	c.(934-936)Gtc>Atc	p.V312I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	312					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCACTGGACGTCTACTTCTG	0.592																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(934-936)Gtc>Atc		gamma-aminobutyric acid (GABA) A receptor, delta							119	102	108					1																	1961076		2201	4300	6501	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961076G>A	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.934G>A	1.37:g.1961076G>A	ENSP00000367848:p.Val312Ile						p.V312I	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	8	1017	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	312					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.934G>A	CCDS36.1	.	.	.	.	.	.	.	.	.	.	G	8.302	0.820039	0.16678	.	.	ENSG00000187730	ENST00000378585	D	0.85773	-2.03	4.0	4.0	0.46444	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.145269	0.46145	D	0.000310	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999996	D	0.76494	0.999	D	0.79784	0.993	T	0.80984	-0.1138	10	0.02654	T	1	-16.1297	15.6431	0.77025	0.0:0.0:1.0:0.0	.	312	O14764	GBRD_HUMAN	I	312	ENSP00000367848:V312I	ENSP00000367848:V312I	V	+	1	0	GABRD	1950936	1.000000	0.71417	0.994000	0.49952	0.343000	0.28985	9.302000	0.96175	2.239000	0.73571	0.561000	0.74099	GTC		0.592	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		36	189	0	0	0	1	0	36	189					A	1961076	G	A	1961076	3	1	114	1	0	0	0	0	1	0	0	0	6196	1145	40	1	964	1	GABRD	1	1961076	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		1961076	247289545	1	37011											
RER1	11079	broad.mit.edu	37	chr1	2333651	2333651	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctccccacttgaaggcatgCggctaccaagggcatccttg	10	14	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:2333651C>T	ENST00000605895.1	+	6	504	c.371C>T	c.(370-372)gCg>gTg	p.A124V	RER1_ENST00000378513.3_Missense_Mutation_p.R91W|RER1_ENST00000488353.1_Missense_Mutation_p.A124V|RER1_ENST00000378518.1_Missense_Mutation_p.R91W|RER1_ENST00000378512.1_Missense_Mutation_p.R161W	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	124				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TGAAGGCATGCGGCTACCAAG	0.607																																						ENST00000605895.1																			0				endometrium(3)|kidney(1)	4						c.(370-372)gCg>gTg		retention in endoplasmic reticulum sorting receptor 1							115	119	118					1																	2333651		2090	4222	6312	SO:0001583	missense	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2333651C>T	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.371C>T	1.37:g.2333651C>T	ENSP00000475168:p.Ala124Val					RER1_ENST00000488353.1_Missense_Mutation_p.A124V|RER1_ENST00000378513.3_Missense_Mutation_p.R91W|RER1_ENST00000378512.1_Missense_Mutation_p.R161W|RER1_ENST00000378518.1_Missense_Mutation_p.R91W	p.A124V	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	6	504	+	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)	124	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Missense_Mutation	SNP	ENST00000605895.1	37	c.371C>T	CCDS41232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.706747|2.706747	0.48412|0.48412	.|.	.|.	ENSG00000157916|ENSG00000157916	ENST00000306256;ENST00000434662;ENST00000443438|ENST00000378518;ENST00000378513;ENST00000378512	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.118734|.	0.64402|.	D|.	0.000015|.	T|T	0.55337|0.55337	0.1914|0.1914	M|M	0.68952|0.68952	2.095|2.095	0.30839|0.30839	N|N	0.735889|0.735889	B|D	0.28713|0.69078	0.22|0.997	B|P	0.41332|0.47299	0.354|0.543	T|T	0.64799|0.64799	-0.6322|-0.6322	9|8	0.87932|0.87932	D|D	0|0	.|.	16.9271|16.9271	0.86179|0.86179	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	124|161	O15258|Q5T091	RER1_HUMAN|.	V|W	124|91;91;161	.|.	ENSP00000302088:A124V|ENSP00000367773:R161W	A|R	+|+	2|1	0|2	RER1|RER1	2323511|2323511	1.000000|1.000000	0.71417|0.71417	0.244000|0.244000	0.24202|0.24202	0.830000|0.830000	0.47004|0.47004	6.798000|6.798000	0.75155|0.75155	2.232000|2.232000	0.73038|0.73038	0.313000|0.313000	0.20887|0.20887	GCG|CGG		0.607	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			5	417	0	0	0	1	0	5	417					T	2333651	C	T	2333651	3	4	114	1	0	0	0	0	1	0	0	0	13280	768	27	1	389	1	RER1	1	2333651	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	372575	2333651	246916970	2	37012											
PHF13	148479	broad.mit.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-													agaaagaaaacggacaagctGaagaagaagaagaagaggaa							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					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)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	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.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	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)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		7	366						7	366	---	---	---	---	-	6680071	GAA	-	6680069	7	5	114	1	0	1	0	1	0	0	0	0	11866	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-US-A77E-01A-11D-A32N-08	4346418	6680069	242570552	3	37013											
RERE	473	broad.mit.edu	37	chr1	8716322	8716327	+	In_Frame_Del	DEL	TCTTTG	TCTTTG	-													ggtctcggtcccggtccttcTctttgtctttgtctttgtct					rs3831914	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:8716322_8716327delTCTTTG	ENST00000337907.3	-	3	664_669	c.30_35delCAAAGA	c.(28-36)gacaaagag>gag	p.DK10del	RERE_ENST00000400907.2_In_Frame_Del_p.DK10del|RERE_ENST00000400908.2_In_Frame_Del_p.DK10del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	10					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)		ccggtccttctctttgtctttgtctt	0.539														115	0.0229633	0.0045	0.0432	5008	,	,		8417	0.0536		0.0159	False		,,,				2504	0.0092					ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(28-36)gag>ga		arginine-glutamic acid dipeptide (RE) repeats			,	18,4248		0,18,2115					,	4.5	1		dbSNP_107	152	137,8103		1,135,3984	no	coding,coding	RERE	NM_012102.3,NM_001042681.1	,	1,153,6099	A1A1,A1R,RR		1.6626,0.4219,1.2394	,	,		155,12351				SO:0001651	inframe_deletion	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716322_8716327delTCTTTG	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.30_35delCAAAGA	1.37:g.8716328_8716333delTCTTTG	ENSP00000338629:p.Asp10_Lys11del					RERE_ENST00000400908.2_In_Frame_Del_p.DKE10del|RERE_ENST00000400907.2_In_Frame_Del_p.DKE10del	p.DKE10del	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	664_669	-	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)	10					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	In_Frame_Del	DEL	ENST00000337907.3	37	c.30_35delCAAAGA	CCDS95.1																																																																																				0.539	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			7	896						7	896	---	---	---	---	-	8716327	TCTTTG	-	8716322	7	5	114	1	0	1	0	1	0	0	0	0	13281	1551	54	0	4753	0	RERE	1	8716322	In_Frame_Del	DEL	TCTTTG	TCGA-US-A77E-01A-11D-A32N-08	2036253	8716322	240534299	4	37014											
CELA3A	10136	broad.mit.edu	37	chr1	22329556	22329556	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtccatggtgaggatgCggtcccctacagctggccct	13	13	0	1	rs550611930		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:22329556C>T	ENST00000290122.3	+	2	123	c.104C>T	c.(103-105)gCg>gTg	p.A35V	CELA3A_ENST00000374663.1_Missense_Mutation_p.A35V|RN7SL768P_ENST00000584415.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	35	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.A35V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGAGGATGCGGTCCCCTAC	0.612																																						ENST00000290122.3																			1	Substitution - Missense(1)	p.A35V(1)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(103-105)gCg>gTg		chymotrypsin-like elastase family, member 3A							61	90	81					1																	22329556		2140	4289	6429	SO:0001583	missense	10136							g.chr1:22329556C>T	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.104C>T	1.37:g.22329556C>T	ENSP00000290122:p.Ala35Val					CELA3A_ENST00000374663.1_Missense_Mutation_p.A35V	p.A35V	NM_005747.4	NP_005738.4					2	123	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.104C>T	CCDS220.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689677	0.68271	.	.	ENSG00000142789	ENST00000290122;ENST00000374663;ENST00000374661	T;D	0.94417	2.07;-3.42	3.47	2.54	0.30619	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.92639	0.7661	L	0.48260	1.515	0.43756	D	0.996263	D	0.71674	0.998	P	0.52627	0.704	D	0.89403	0.3697	9	0.39692	T	0.17	-25.4813	6.7714	0.23596	0.0:0.8655:0.0:0.1345	.	35	P09093	CEL3A_HUMAN	V	35;35;51	ENSP00000290122:A35V;ENSP00000363795:A35V	ENSP00000290122:A35V	A	+	2	0	CELA3A	22202143	0.996000	0.38824	0.042000	0.18584	0.880000	0.50808	3.389000	0.52516	0.781000	0.33589	0.400000	0.26472	GCG		0.612	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		5	443	0	0	0	1	0	5	443					T	22329556	C	T	22329556	3	4	114	1	0	0	0	0	1	0	0	0	3222	768	27	1	110	1	CELA3A	1	22329556	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	13613234	22329556	226921065	5	37015											
IPO13	9670	broad.mit.edu	37	chr1	44425920	44425922	+	Splice_Site	DEL	GGT	GGT	-													cacttcttcctgtgccttcaGgtggtggtggtgctgcagca							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:44425920_44425922delGGT	ENST00000372343.3	+	12	2690_2692	c.2028_2030delGGT	c.(2026-2031)ccggtg>ccg	p.V680del		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	680					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGTGCCTTCAGGTGGTGGTGGTG	0.562																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e12-1		importin 13																																				SO:0001630	splice_region_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44425920_44425922delGGT	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2029-1GGT>-	1.37:g.44425929_44425931delGGT							p.P676_splice	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			12	2690_2692	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	676					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Splice_Site	DEL	ENST00000372343.3	37	c.2028_splice	CCDS503.1																																																																																				0.562	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652	In_Frame_Del	9	1410						9	1410	---	---	---	---	-	44425922	GGT	-	44425920	8	5	114	1	0	1	0	1	0	0	1	0	7824	1014	35	0	2074	0	IPO13	1	44425920	Splice_Site	DEL	GGT	TCGA-US-A77E-01A-11D-A32N-08	22096364	44425920	204824701	6	37016											
PTCH2	8643	broad.mit.edu	37	chr1	45294946	45294946	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggaaccctgggactgggcGcagtcccaccgcagcatggt	14	14	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:45294946G>A	ENST00000372192.3	-	10	1384	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	PTCH2_ENST00000447098.2_Silent_p.C418C	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	418	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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)					GGGACTGGGCGCAGTCCCACC	0.687									Basal Cell Nevus syndrome																													ENST00000447098.2																			0				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						c.(1252-1254)tgC>tgT		patched 2							26	30	28					1																	45294946		2203	4298	6501	SO:0001819	synonymous_variant	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45294946G>A	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.1254C>T	1.37:g.45294946G>A						PTCH2_ENST00000372192.3_Silent_p.C418C	p.C418C	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN			10	1265	-	Acute lymphoblastic leukemia(166;0.155)		418			SSD.		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.1254C>T	CCDS516.1																																																																																				0.687	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		5	236	0	0	0	1	0	5	236					A	45294946	G	A	45294946	2	1	114	1	0	0	0	0	0	0	0	1	12778	1079	38	1		1	PTCH2	1	45294946	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	869026	45294946	203955675	7	37017											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				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)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				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						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	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.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		9	383						9	383	---	---	---	---	-	92447230	AGC	-	92447228	7	5	114	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-US-A77E-01A-11D-A32N-08	47152282	92447228	156803393	8	37018											
AMPD2	271	broad.mit.edu	37	chr1	110172946	110172946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcagctatcaccGgaatccgctaccggagtacc	7	17	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:110172946G>A	ENST00000256578.3	+	16	2597	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	AMPD2_ENST00000528454.1_Missense_Mutation_p.R628Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.R665Q|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.R671Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.R627Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.R746Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	746					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)		AGCTATCACCGGAATCCGCTA	0.612																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(2236-2238)cGg>cAg		adenosine monophosphate deaminase 2							160	162	161					1																	110172946		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110172946G>A	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.2237G>A	1.37:g.110172946G>A	ENSP00000256578:p.Arg746Gln					AMPD2_ENST00000393688.3_Missense_Mutation_p.R627Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.R671Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.R665Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.R746Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.R628Q|AMPD2_ENST00000526301.1_3'UTR	p.R746Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	16	2597	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	746					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.2237G>A	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.936526|4.936526	0.92458|0.92458	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000476688|ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	.|D;D;D;D;D;D	.|0.95238	.|-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Adenosine/AMP deaminase (1);	.|0.171927	.|0.50627	.|D	.|0.000102	D|D	0.95934|0.95934	0.8676|0.8676	M|M	0.64630|0.64630	1.985|1.985	0.50039|0.50039	D|D	0.999848|0.999848	.|D;P;P;P	.|0.69078	.|0.997;0.905;0.522;0.905	.|D;B;B;B	.|0.67231	.|0.95;0.185;0.148;0.188	D|D	0.95899|0.95899	0.8913|0.8913	5|10	.|0.56958	.|D	.|0.05	-28.8684|-28.8684	17.3347|17.3347	0.87277|0.87277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|671;627;746;665	.|Q01433-4;Q01433-3;Q01433;Q01433-2	.|.;.;AMPD2_HUMAN;.	R|Q	135|665;746;746;671;628;627	.|ENSP00000345498:R665Q;ENSP00000436541:R746Q;ENSP00000256578:R746Q;ENSP00000351573:R671Q;ENSP00000437164:R628Q;ENSP00000377292:R627Q	.|ENSP00000256578:R746Q	G|R	+|+	1|2	0|0	AMPD2|AMPD2	109974469|109974469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	4.760000|4.760000	0.62235|0.62235	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.612	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			6	954	0	0	0	1	0	6	954					A	110172946	G	A	110172946	3	1	114	1	0	0	0	0	1	0	0	0	586	1116	39	1	2340	1	AMPD2	1	110172946	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	17725718	110172946	139077675	9	37019											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	355	0	0	0	1	0	6	355					T	153907309	C	T	153907309	2	4	114	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	43734363	153907309	95343312	10	37020											
NES	10763	broad.mit.edu	37	chr1	156639754	156639754	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cctcatctgcaaacccatcgGactccccatctcgatcccag	5	19	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:156639754G>T	ENST00000368223.3	-	4	4358	c.4226C>A	c.(4225-4227)tCc>tAc	p.S1409Y		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1409	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)					AAACCCATCGGACTCCCCATC	0.647																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(4225-4227)tCc>tAc		nestin							22	24	24					1																	156639754		2201	4297	6498	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639754G>T	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.4226C>A	1.37:g.156639754G>T	ENSP00000357206:p.Ser1409Tyr						p.S1409Y	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4358	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1409			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4226C>A	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219120	0.58560	.	.	ENSG00000132688	ENST00000368223	D	0.93811	-3.29	4.46	4.46	0.54185	.	0.000000	0.32640	N	0.005837	D	0.94215	0.8143	M	0.66939	2.045	0.26797	N	0.969277	D	0.76494	0.999	D	0.71184	0.972	D	0.89006	0.3425	10	0.87932	D	0	.	11.8552	0.52433	0.0:0.0:0.8245:0.1755	.	1409	P48681	NEST_HUMAN	Y	1409	ENSP00000357206:S1409Y	ENSP00000357206:S1409Y	S	-	2	0	NES	154906378	0.996000	0.38824	1.000000	0.80357	0.933000	0.57130	3.567000	0.53813	2.316000	0.78162	0.557000	0.71058	TCC		0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		11	175	1	0	3.07112e-06	1	3.18124e-06	11	175					T	156639754	G	T	156639754	3	4	114	1	0	0	0	0	1	0	0	0	10379	1174	41	3	643	3	NES	1	156639754	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2732445	156639754	92610867	11	37021											
F5	2153	broad.mit.edu	37	chr1	169510333	169510333	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtctggctgaagtctAgagaaagggttgtatggctg	16	4	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:169510333A>G	ENST00000367797.3	-	13	4196	c.3995T>C	c.(3994-3996)cTa>cCa	p.L1332P	F5_ENST00000367796.3_Missense_Mutation_p.L1337P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1332	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCTGAAGTCTAGAGAAAGGGT	0.527																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4009-4011)cTa>cCa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						207	230	222					1																	169510333		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510333A>G	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.3995T>C	1.37:g.169510333A>G	ENSP00000356771:p.Leu1332Pro					F5_ENST00000367797.3_Missense_Mutation_p.L1332P	p.L1337P			P12259	FA5_HUMAN			13	4211	-	all_hematologic(923;0.208)		1332			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4010T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	4.474	0.087831	0.08583	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.33216	1.42;1.42	4.07	-0.0598	0.13791	.	1.005240	0.08004	N	0.989312	T	0.05364	0.0142	N	0.10945	0.07	0.19945	N	0.999945	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.41790	T	0.15	-2.473	6.3807	0.21533	0.4524:0.0:0.5476:0.0	.	1332	P12259	FA5_HUMAN	P	1332;1337	ENSP00000356771:L1332P;ENSP00000356770:L1337P	ENSP00000356770:L1337P	L	-	2	0	F5	167776957	0.000000	0.05858	0.032000	0.17829	0.002000	0.02628	-0.605000	0.05661	0.025000	0.15241	-1.044000	0.02363	CTA		0.527	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		6	1346	0	0	0	1	0	6	1346					G	169510333	A	G	169510333	3	3	114	1	0	0	0	0	1	0	0	0	5366	420	15	4	2731	4	F5	1	169510333	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	12870579	169510333	79740288	12	37022											
SNRPE	6635	broad.mit.edu	37	chr1	203832833	203832833	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctatgagcaagtgaatatgCggatagaaggctgtatcatt	11	5	2	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:203832833C>T	ENST00000414487.2	+	3	169	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	SNRPE_ENST00000367208.1_Missense_Mutation_p.R2W|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	42					gene expression (GO:0010467)|hair cycle (GO:0042633)|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 complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)	p.R42W(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTGAATATGCGGATAGAAGG	0.433																																					Ovarian(83;324 1318 17952 32395 39614)	ENST00000414487.2																			1	Substitution - Missense(1)	p.R42W(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-126)Cgg>Tgg		small nuclear ribonucleoprotein polypeptide E							127	128	127					1																	203832833		2203	4300	6503	SO:0001583	missense	6635				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr1:203832833C>T	M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.124C>T	1.37:g.203832833C>T	ENSP00000400591:p.Arg42Trp					SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Missense_Mutation_p.R2W	p.R42W	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	169	+	all_cancers(21;0.103)		42					B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	37	c.124C>T	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276540	0.59758	.	.	ENSG00000182004	ENST00000414487;ENST00000367208	T;T	0.45276	0.9;0.9	5.35	4.44	0.53790	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.060085	0.64402	N	0.000002	T	0.37210	0.0995	.	.	.	0.80722	D	1	B	0.16802	0.019	B	0.17722	0.019	T	0.18272	-1.0342	9	0.52906	T	0.07	.	13.7069	0.62646	0.0:0.9252:0.0:0.0748	.	42	P62304	RUXE_HUMAN	W	42;2	ENSP00000400591:R42W;ENSP00000356176:R2W	ENSP00000356176:R2W	R	+	1	2	SNRPE	202099456	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.545000	0.60698	1.260000	0.44134	-0.145000	0.13849	CGG		0.433	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094		7	715	0	0	0	1	0	7	715					T	203832833	C	T	203832833	3	4	114	1	0	0	0	0	1	0	0	0	14917	759	27	1	134	1	SNRPE	1	203832833	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	34322500	203832833	45417788	13	37023											
CNIH3	149111	broad.mit.edu	37	chr1	224868727	224868727	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcaatcctgttcatgCggtaagtggcgggtactggt	14	9	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr1:224868727C>T	ENST00000272133.3	+	2	1031	c.149C>T	c.(148-150)gCg>gTg	p.A50V		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	50					intracellular signal transduction (GO:0035556)|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)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CCTGTTCATGCGGTAAGTGGC	0.473																																						ENST00000272133.3																			0				large_intestine(5)|lung(4)	9						c.e2+1		cornichon family AMPA receptor auxiliary protein 3							116	112	113					1																	224868727		2203	4300	6503	SO:0001630	splice_region_variant	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224868727C>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"cornichon homolog 3 (Drosophila)"			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.150+1C>T	1.37:g.224868727C>T							p.A50_splice	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	2	1031	+	Breast(184;0.218)		50						Splice_Site	SNP	ENST00000272133.3	37	c.150_splice	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386315	0.82902	.	.	ENSG00000143786	ENST00000272133	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	L	0.29908	0.895	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	T	0.69800	-0.5047	9	0.59425	D	0.04	-0.2012	17.7753	0.88505	0.0:1.0:0.0:0.0	.	50	Q8TBE1	CNIH3_HUMAN	V	50	.	ENSP00000272133:A50V	A	+	2	0	CNIH3	222935350	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	5.322000	0.65852	2.504000	0.84457	0.551000	0.68910	GCG		0.473	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495	Missense_Mutation	53	293	0	0	0	1	0	53	293					T	224868727	C	T	224868727	5	4	114	1	0	0	0	0	0	0	1	0	3613	782	27	1	155	1	CNIH3	1	224868727	Splice_Site	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	21035894	224868727	24381894	14	37024											
ITSN2	50618	broad.mit.edu	37	chr2	24531532	24531532	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaagagtattaaatttttgCcgatattttaatcttgtagg	7	4	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:24531532C>T	ENST00000355123.4	-	8	1190	c.747G>A	c.(745-747)cgG>cgA	p.R249R	ITSN2_ENST00000361999.3_Silent_p.R249R|ITSN2_ENST00000406921.3_Silent_p.R249R|ITSN2_ENST00000407704.1_5'Flank	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	249	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				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)					TAAATTTTTGCCGATATTTTA	0.428																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(745-747)cgG>cgA		intersectin 2							139	141	140					2																	24531532		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24531532C>T	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.747G>A	2.37:g.24531532C>T						ITSN2_ENST00000361999.3_Silent_p.R249R|ITSN2_ENST00000406921.3_Silent_p.R249R	p.R249R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			8	1190	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		249			EH 2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.747G>A	CCDS1710.2																																																																																				0.428	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		5	422	0	0	0	1	0	5	422					T	24531532	C	T	24531532	2	4	114	1	0	0	0	0	0	0	0	1	7957	726	26	2		2	ITSN2	2	24531532	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		24531532	218667841	15	37025											
POMC	5443	broad.mit.edu	37	chr2	25384178	25384178	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgtcatcggcagggccGtcggggccatctccctcccg	14	18	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:25384178G>A	ENST00000405623.1	-	3	1031	c.576C>T	c.(574-576)gaC>gaT	p.D192D	POMC_ENST00000395826.2_Silent_p.D192D|POMC_ENST00000264708.3_Silent_p.D192D|POMC_ENST00000380794.1_Silent_p.D192D|RP11-509E16.1_ENST00000567599.1_lincRNA			P01189	COLI_HUMAN	proopiomelanocortin	192					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)	CGGCAGGGCCGTCGGGGCCAT	0.697																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(574-576)gaC>gaT		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						12	13	13					2																	25384178		2199	4294	6493	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384178G>A		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.576C>T	2.37:g.25384178G>A						POMC_ENST00000264708.3_Silent_p.D192D|POMC_ENST00000380794.1_Silent_p.D192D|POMC_ENST00000395826.2_Silent_p.D192D	p.D192D			P01189	COLI_HUMAN			3	1031	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		192					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.576C>T	CCDS1717.1																																																																																				0.697	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		19	70	0	0	0	1	0	19	70					A	25384178	G	A	25384178	2	1	114	1	0	0	0	0	0	0	0	1	12284	1136	40	1		1	POMC	2	25384178	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	852646	25384178	217815195	16	37026											
FAM98A	25940	broad.mit.edu	37	chr2	33810734	33810734	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taagactgaacgtttcggctGgtaaaccttggctaattttt	9	7	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:33810734G>A	ENST00000238823.8	-	7	891	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	FAM98A_ENST00000403368.1_Nonsense_Mutation_p.Q251*|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000441530.2_Nonsense_Mutation_p.Q56*			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	252							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CGTTTCGGCTGGTAAACCTTG	0.373																																						ENST00000403368.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(751-753)Cag>Tag		family with sequence similarity 98, member A							85	88	87					2																	33810734		2203	4300	6503	SO:0001587	stop_gained	25940							g.chr2:33810734G>A		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.751C>T	2.37:g.33810734G>A	ENSP00000238823:p.Gln251*					FAM98A_ENST00000238823.8_Nonsense_Mutation_p.Q251*|FAM98A_ENST00000441530.2_Nonsense_Mutation_p.Q56*	p.Q251*	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN			7	820	-	all_hematologic(175;0.115)		252					B2RNA2|Q9Y3Y6	Nonsense_Mutation	SNP	ENST00000238823.8	37	c.751C>T	CCDS33179.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525280	0.85600	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368;ENST00000441530	.	.	.	5.63	5.63	0.86233	.	0.059442	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-5.8353	20.0396	0.97574	0.0:0.0:1.0:0.0	.	.	.	.	X	251;252;251;56	.	ENSP00000238823:Q251X	Q	-	1	0	FAM98A	33664238	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	9.541000	0.98083	2.814000	0.96858	0.563000	0.77884	CAG		0.373	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		5	478	0	0	0	1	0	5	478					A	33810734	G	A	33810734	4	1	114	1	0	0	0	0	0	1	0	0	5681	1357	47	2	813	2	FAM98A	2	33810734	Nonsense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	8426556	33810734	209388639	17	37027											
NRXN1	9378	broad.mit.edu	37	chr2	50765563	50765563	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttgaacttcagccatttgCcggatatctttgctttggcc	8	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:50765563C>T	ENST00000406316.2	-	10	3447	c.1971G>A	c.(1969-1971)cgG>cgA	p.R657R	NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.R697R|NRXN1_ENST00000401669.2_Silent_p.R657R|NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000405472.3_Silent_p.R649R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	Laminin G-like 3. {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)			CAGCCATTTGCCGGATATCTT	0.502																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2089-2091)cgG>cgA		neurexin 1							266	276	273					2																	50765563		2189	4294	6483	SO:0001819	synonymous_variant	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50765563C>T	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.1971G>A	2.37:g.50765563C>T						NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.R657R|NRXN1_ENST00000406859.3_Silent_p.R657R	p.R697R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		11	3430	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	657			EGF-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2091G>A	CCDS54360.1																																																																																				0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			7	1303	0	0	0	1	0	7	1303					T	50765563	C	T	50765563	2	4	114	1	0	0	0	0	0	0	0	1	10707	726	26	2		2	NRXN1	2	50765563	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	16954829	50765563	192433810	18	37028											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000366671.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000282549.2_In_Frame_Del_p.GH291del	p.GH291del	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.64	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			8	424						8	424	---	---	---	---	-	63283261	CCA	-	63283259	7	5	114	1	0	1	0	1	0	0	0	0	11362	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-US-A77E-01A-11D-A32N-08	12517696	63283259	179916114	19	37029											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcgaattaatgatgcGtatggtggttttattcccaa	9	7	0	1	rs533150647		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:107450522G>A	ENST00000409382.3	-	3	1634	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R342C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R342C|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	342					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.R342C(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						TTAATGATGCGTATGGTGGTT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.0					ENST00000409382.3																			1	Substitution - Missense(1)	p.R342C(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(1024-1026)Cgc>Tgc		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							224	213	217					2																	107450522		2203	4300	6503	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107450522G>A	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.1024C>T	2.37:g.107450522G>A	ENSP00000386942:p.Arg342Cys					ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R342C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R342C	p.R342C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			3	1634	-			342					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.1024C>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606524	0.87157	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78924	-1.22;-1.22;-1.22	6.03	6.03	0.97812	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94296	0.7533	10	0.87932	D	0	-37.1524	19.545	0.95291	0.0:0.0:1.0:0.0	.	342;342	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	C	342	ENSP00000355273:R342C;ENSP00000386942:R342C;ENSP00000387332:R342C	ENSP00000355273:R342C	R	-	1	0	ST6GAL2	106816954	1.000000	0.71417	0.990000	0.47175	0.813000	0.45954	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGC		0.393	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		66	325	0	0	0	1	0	66	325					A	107450522	G	A	107450522	3	1	114	1	0	0	0	0	1	0	0	0	15274	1145	40	1	668	1	ST6GAL2	2	107450522	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	44167263	107450522	135748851	20	37030											
POLR1B	84172	broad.mit.edu	37	chr2	113322044	113322044	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gggtggataaggatcttgctCcaggcatcgcagattctctt	12	9	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:113322044C>T	ENST00000263331.5	+	10	2294	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S	POLR1B_ENST00000541869.1_Missense_Mutation_p.P610S|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000417433.2_Missense_Mutation_p.P516S|POLR1B_ENST00000537335.1_Missense_Mutation_p.P361S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	572					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						GGATCTTGCTCCAGGCATCGC	0.498																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1714-1716)Cca>Tca		polymerase (RNA) I polypeptide B, 128kDa							275	246	256					2																	113322044		2203	4300	6503	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113322044C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1714C>T	2.37:g.113322044C>T	ENSP00000263331:p.Pro572Ser					POLR1B_ENST00000541869.1_Missense_Mutation_p.P610S|POLR1B_ENST00000537335.1_Missense_Mutation_p.P361S|POLR1B_ENST00000417433.2_Missense_Mutation_p.P516S|POLR1B_ENST00000409894.3_Intron	p.P572S	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			10	2294	+			572					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.1714C>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809758	0.16537	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433;ENST00000458012	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.51	5.83	3.97	0.46021	RNA polymerase I, Rpa2 specific (1);	0.150076	0.64402	D	0.000009	T	0.68274	0.2983	L	0.43152	1.355	0.58432	D	0.999992	B;B;B	0.25105	0.118;0.0;0.094	B;B;B	0.33254	0.108;0.003;0.16	T	0.59306	-0.7479	10	0.12766	T	0.61	-13.5536	15.3557	0.74425	0.0:0.7349:0.265:0.0	.	610;516;572	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	S	572;610;361;516;36	ENSP00000263331:P572S;ENSP00000444136:P610S;ENSP00000437914:P361S;ENSP00000405358:P516S;ENSP00000394408:P36S	ENSP00000263331:P572S	P	+	1	0	POLR1B	113038515	1.000000	0.71417	0.534000	0.28014	0.274000	0.26718	3.052000	0.49893	0.738000	0.32606	0.650000	0.86243	CCA		0.498	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		92	458	0	0	0	1	0	92	458					T	113322044	C	T	113322044	3	4	114	1	0	0	0	0	1	0	0	0	12252	855	30	2	1752	2	POLR1B	2	113322044	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5871522	113322044	129877329	21	37031											
ZEB2	9839	broad.mit.edu	37	chr2	145162490	145162490	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataatggctgtgtcactgcGctgaaggtactcctcgatgc	11	10	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:145162490G>A	ENST00000558170.2	-	5	1689	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	ZEB2_ENST00000409487.3_Missense_Mutation_p.R169C|ZEB2_ENST00000539609.3_Missense_Mutation_p.R145C|ZEB2_ENST00000303660.4_Missense_Mutation_p.R169C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	169					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)		GTGTCACTGCGCTGAAGGTAC	0.493																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(505-507)Cgc>Tgc		zinc finger E-box binding homeobox 2							90	75	80					2																	145162490		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145162490G>A	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.505C>T	2.37:g.145162490G>A	ENSP00000454157:p.Arg169Cys					ZEB2_ENST00000409487.3_Missense_Mutation_p.R169C|ZEB2_ENST00000539609.3_Missense_Mutation_p.R145C|ZEB2_ENST00000303660.4_Missense_Mutation_p.R169C	p.R169C	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	5	1689	-			169					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.505C>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489988	0.64074	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86560	0.5962	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	0.77004	0.989;0.948;0.948;0.948	D	0.86852	0.2024	10	0.87932	D	0	-8.3326	20.0114	0.97452	0.0:0.0:1.0:0.0	.	145;34;168;169	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	C	164;145;169;169;169;169	ENSP00000443792:R145C;ENSP00000302501:R169C;ENSP00000386854:R169C;ENSP00000395496:R169C;ENSP00000376601:R169C	ENSP00000302501:R169C	R	-	1	0	ZEB2	144878960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.820000	0.86633	2.795000	0.96236	0.655000	0.94253	CGC		0.493	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		31	153	0	0	0	1	0	31	153					A	145162490	G	A	145162490	3	1	114	1	0	0	0	0	1	0	0	0	17677	1087	38	1	3163	1	ZEB2	2	145162490	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	31840446	145162490	98036883	22	37032											
TTN	7273	broad.mit.edu	37	chr2	179466769	179466769	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttccatcaaattcccaagatGattttggtgttgggcgtccc	9	10	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:179466769G>A	ENST00000591111.1	-	234	50530	c.50306C>T	c.(50305-50307)tCa>tTa	p.S16769L	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S18410L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15842L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9470L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S9345L|TTN_ENST00000342175.6_Missense_Mutation_p.S9537L			Q8WZ42	TITIN_HUMAN	titin	16769	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCCAAGATGATTTTGGTGT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55228-55230)tCa>tTa		titin							172	168	169					2																	179466769		1875	4113	5988	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466769G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50306C>T	2.37:g.179466769G>A	ENSP00000465570:p.Ser16769Leu					TTN_ENST00000460472.2_Missense_Mutation_p.S9345L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16769L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S9537L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15842L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S9470L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.S18410L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		284	55453	-			16769			Fibronectin type-III 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55229C>T		.	.	.	.	.	.	.	.	.	.	G	14.36	2.512432	0.44660	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	6.07	6.07	0.98685	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	0.50803	0.1637	N	0.11789	0.175	0.34748	D	0.731475	B;B;B;B	0.28128	0.101;0.101;0.201;0.101	B;B;B;B	0.28385	0.089;0.089;0.089;0.089	T	0.59778	-0.7390	9	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	9345;9470;9537;16769	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15842;9345;9537;9470;9345	ENSP00000343764:S15842L;ENSP00000434586:S9345L;ENSP00000340554:S9537L;ENSP00000352154:S9470L	ENSP00000340554:S9537L	S	-	2	0	TTN	179175014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.885000	0.99019	0.655000	0.94253	TCA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		84	363	0	0	0	1	0	84	363					A	179466769	G	A	179466769	3	1	114	1	0	0	0	0	1	0	0	0	16789	1294	45	2	52780	2	TTN	2	179466769	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	34304279	179466769	63732604	23	37033											
COL5A2	1290	broad.mit.edu	37	chr2	189929337	189929337	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cctggatccccctggcttccTttgggtcctgaagaacctac	9	15	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:189929337T>C	ENST00000374866.3	-	25	1936	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	554					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)			CCTGGCTTCCTTTGGGTCCTG	0.507																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1660-1662)aaA>aaG		collagen, type V, alpha 2							56	59	58					2																	189929337		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189929337T>C	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.1662A>G	2.37:g.189929337T>C							p.K554K	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		25	1936	-			554					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1662A>G	CCDS33350.1																																																																																				0.507	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		46	299	0	0	0	1	0	46	299					C	189929337	T	C	189929337	2	2	114	1	0	0	0	0	0	0	0	1	3706	1606	56	4		4	COL5A2	2	189929337	Silent	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	10462568	189929337	53270036	24	37034											
ZNF142	7701	broad.mit.edu	37	chr2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-													gttttcctcccccgccacgtCcccccctgcagccttcagcc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:219508084delC	ENST00000449707.1	-	8	3576	c.3155delG	c.(3154-3156)ggafs	p.G1052fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.G1052fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1052					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.G1052fs*20(1)|p.G889fs*20(1)		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)		CCCGCCACGTCCCCCCCTGCA	0.607																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			2	Deletion - Frameshift(2)	p.G1052fs*20(1)|p.G889fs*20(1)	lung(2)	breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3154-3156)gafs		zinc finger protein 142							42	48	46					2																	219508084		1928	4115	6043	SO:0001589	frameshift_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508084delC	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.3155delG	2.37:g.219508084delC	ENSP00000408643:p.Gly1052fs					ZNF142_ENST00000449707.1_Frame_Shift_Del_p.G1052fs	p.G1052fs			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3934	-		Renal(207;0.0474)	1052					Q92510	Frame_Shift_Del	DEL	ENST00000449707.1	37	c.3155delG	CCDS42817.1																																																																																				0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	348						7	348	---	---	---	---	-	219508084	C	-	219508084	7	5	114	1	0	1	0	1	0	0	0	0	17784	855	30	0	1920	0	ZNF142	2	219508084	Frame_Shift_Del	DEL	C	TCGA-US-A77E-01A-11D-A32N-08	29578747	219508084	23691289	25	37035											
DOCK10	55619	broad.mit.edu	37	chr2	225651759	225651759	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgcccataaaatgccacacGatagtagcgaccaaacagcc	7	14	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:225651759G>A	ENST00000258390.7	-	50	5702	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1873C	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1879	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)		AATGCCACACGATAGTAGCGA	0.433																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5617-5619)Cgt>Tgt		dedicator of cytokinesis 10							124	119	121					2																	225651759		1901	4114	6015	SO:0001583	missense	55619						GTP binding	g.chr2:225651759G>A	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.5635C>T	2.37:g.225651759G>A	ENSP00000258390:p.Arg1879Cys					DOCK10_ENST00000258390.7_Missense_Mutation_p.R1879C	p.R1873C			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	50	5730	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1879			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5617C>T	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.238466|4.238466	0.79800|0.79800	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.32988|.	1.43;1.43|.	5.99|5.99	5.09|5.09	0.68999|0.68999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85483|0.85483	0.5707|0.5707	M|M	0.93507|0.93507	3.425|3.425	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.994;1.0;0.991;0.997|.	D|D	0.89507|0.89507	0.3768|0.3768	10|5	0.87932|.	D|.	0|.	.|.	15.2244|15.2244	0.73339|0.73339	0.0:0.0:0.7376:0.2624|0.0:0.0:0.7376:0.2624	.|.	1879;700;1873;541|.	Q96BY6;B4DF07;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.;.|.	C|L	1873;1879;384|26	ENSP00000386694:R1873C;ENSP00000258390:R1879C|.	ENSP00000258390:R1879C|.	R|S	-|-	1|2	0|0	DOCK10|DOCK10	225360003|225360003	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	4.329000|4.329000	0.59260|0.59260	1.477000|1.477000	0.48234|0.48234	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.433	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			69	358	0	0	0	1	0	69	358					A	225651759	G	A	225651759	3	1	114	1	0	0	0	0	1	0	0	0	4701	1058	37	1	953	1	DOCK10	2	225651759	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	6143675	225651759	17547614	26	37036											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		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.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		14	342						14	342	---	---	---	---	-	227660810	GCT	-	227660808	7	5	114	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-US-A77E-01A-11D-A32N-08	2009049	227660808	15538565	27	37037											
C2orf54	79919	broad.mit.edu	37	chr2	241827790	241827790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggagcgccttgagcccGgagccgatgcgcggcggggg	20	12	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr2:241827790G>A	ENST00000388934.4	-	4	1328	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S	C2orf54_ENST00000307486.8_Silent_p.S241S|C2orf54_ENST00000402775.2_Silent_p.S222S	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	390										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|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)		CCTTGAGCCCGGAGCCGATGC	0.721																																						ENST00000307486.8																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6						c.(721-723)tcC>tcT		chromosome 2 open reading frame 54																																				SO:0001819	synonymous_variant	79919							g.chr2:241827790G>A	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.1170C>T	2.37:g.241827790G>A						C2orf54_ENST00000402775.2_Silent_p.S222S|C2orf54_ENST00000388934.4_Silent_p.S390S	p.S241S			Q08AI8	CB054_HUMAN		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)	4	821	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	390					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.723C>T	CCDS42839.1																																																																																				0.721	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		10	42	0	0	0	1	0	10	42					A	241827790	G	A	241827790	2	1	114	1	0	0	0	0	0	0	0	1	2182	1103	39	1		1	C2orf54	2	241827790	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14166982	241827790	1371583	28	37038											
FBLN2	2199	broad.mit.edu	37	chr3	13672892	13672892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgtctcaacgtgccagGgagctaccagtgtgcatgcc	12	14	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:13672892G>A	ENST00000295760.7	+	15	3077	c.3008G>A	c.(3007-3009)gGg>gAg	p.G1003E	FBLN2_ENST00000492059.1_Missense_Mutation_p.G1050E|FBLN2_ENST00000535798.1_Missense_Mutation_p.G1029E|FBLN2_ENST00000404922.3_Missense_Mutation_p.G1050E	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1003	EGF-like 9; 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)			AACGTGCCAGGGAGCTACCAG	0.637																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3148-3150)gGg>gAg		fibulin 2							29	33	32					3																	13672892		2158	4257	6415	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672892G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3008G>A	3.37:g.13672892G>A	ENSP00000295760:p.Gly1003Glu					FBLN2_ENST00000535798.1_Missense_Mutation_p.G1029E|FBLN2_ENST00000295760.7_Missense_Mutation_p.G1003E|FBLN2_ENST00000492059.1_Missense_Mutation_p.G1050E	p.G1050E	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		16	3268	+			1033			EGF-like 10; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3149G>A	CCDS46762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.288281|5.288281	0.95517|0.95517	.|.	.|.	ENSG00000163520|ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059|ENST00000295761	D;D;D;D|D	0.90504|0.99557	-2.56;-2.56;-2.68;-2.56|-6.16	5.39|5.39	5.39|5.39	0.77823|0.77823	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.99775|0.99775	0.9907|0.9907	H|H	0.95294|0.95294	3.65|3.65	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	0.97158|0.97158	0.9836|0.9836	10|8	0.87932|0.87932	D|D	0|0	.|.	19.1574|19.1574	0.93517|0.93517	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1003;1050;1029|.	P98095;P98095-2;F5H1F3|.	FBLN2_HUMAN;.;.|.	E|R	1029;1050;1003;1050|22	ENSP00000445705:G1029E;ENSP00000384169:G1050E;ENSP00000295760:G1003E;ENSP00000420042:G1050E|ENSP00000295761:G22R	ENSP00000295760:G1003E|ENSP00000295761:G22R	G|G	+|+	2|1	0|0	FBLN2|FBLN2	13647893|13647893	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.977000|0.977000	0.68977|0.68977	9.839000|9.839000	0.99476|0.99476	2.525000|2.525000	0.85131|0.85131	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.637	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		26	45	0	0	0	1	0	26	45					A	13672892	G	A	13672892	3	1	114	1	0	0	0	0	1	0	0	0	5724	1232	43	2	1897	2	FBLN2	3	13672892	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		13672892	184349538	29	37039											
TRAK1	22906	broad.mit.edu	37	chr3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-													cctgtccagctgcgtcagcaCcccccggtccagcttctacg							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)accfs	p.T444fs	TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				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						TGCGTCAGCACCCCCCGGTCC	0.592																																					GBM(44;195 884 22595 31865 41850)	ENST00000327628.5																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1330-1332)acfs		trafficking protein, kinesin binding 1							117	110	112					3																	42242450		2203	4300	6503	SO:0001589	frameshift_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242450delC		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.1331delC	3.37:g.42242450delC	ENSP00000328998:p.Thr444fs					TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR	p.T444fs	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN			12	1731	+			444			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Frame_Shift_Del	DEL	ENST00000327628.5	37	c.1331delC	CCDS43072.1																																																																																				0.592	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		8	851						8	851	---	---	---	---	-	42242450	C	-	42242450	7	5	114	1	0	1	0	1	0	0	0	0	16502	507	18	0	1493	0	TRAK1	3	42242450	Frame_Shift_Del	DEL	C	TCGA-US-A77E-01A-11D-A32N-08	28569558	42242450	155779980	30	37040											
LIMD1	8994	broad.mit.edu	37	chr3	45636543	45636545	+	In_Frame_Del	DEL	CAG	CAG	-													agatggccaaaatccacctcCagcagcagcagcagcagctc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:45636543_45636545delCAG	ENST00000273317.4	+	1	193_195	c.172_174delCAG	c.(172-174)cagdel	p.Q63del	LIMD1_ENST00000465039.1_Intron|AC099539.1_ENST00000516118.1_RNA|LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	63	Mediates nuclear export.				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)		AATCCACCTCCAGCAGCAGCAGC	0.626																																						ENST00000273317.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10						c.(172-174)del		LIM domains containing 1																																				SO:0001651	inframe_deletion	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45636543_45636545delCAG	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.172_174delCAG	3.37:g.45636552_45636554delCAG	ENSP00000273317:p.Gln63del					LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron	p.Q63del	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	193_195	+			63			Mediates nuclear export.		Q17RQ1|Q9BQQ9|Q9NQ47	In_Frame_Del	DEL	ENST00000273317.4	37	c.172_174delCAG	CCDS2729.1																																																																																				0.626	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		7	238						7	238	---	---	---	---	-	45636545	CAG	-	45636543	7	5	114	1	0	1	0	1	0	0	0	0	8830	595	21	0	174	0	LIMD1	3	45636543	In_Frame_Del	DEL	CAG	TCGA-US-A77E-01A-11D-A32N-08	3394093	45636543	152385887	31	37041											
ALS2CL	259173	broad.mit.edu	37	chr3	46729748	46729748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagctgttgcaagagccGcaggcactctctgccccagg	13	14	1	1	rs143519761		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:46729748G>A	ENST00000318962.4	-	3	225	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R48W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	48					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)		TGCAAGAGCCGCAGGCACTCT	0.612																																						ENST00000318962.4																			0				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						c.(142-144)Cgg>Tgg		ALS2 C-terminal like		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	40	40	40		142,142	2.2	0.3	3	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CL	NM_001190707.1,NM_147129.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	48/954,48/954	46729748	1,13005	2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46729748G>A	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.142C>T	3.37:g.46729748G>A	ENSP00000313670:p.Arg48Trp					ALS2CL_ENST00000415953.1_Missense_Mutation_p.R48W	p.R48W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	3	225	-			48					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.142C>T	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113617	0.20795	0.0	1.16E-4	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.17691	2.26;2.26	4.15	2.19	0.27852	.	0.879668	0.09620	N	0.777724	T	0.11196	0.0273	L	0.29908	0.895	0.19300	N	0.999979	D	0.56968	0.978	B	0.36504	0.226	T	0.20338	-1.0278	10	0.72032	D	0.01	.	8.7355	0.34525	0.0:0.0:0.5869:0.4131	.	48	Q60I27	AL2CL_HUMAN	W	48	ENSP00000313670:R48W;ENSP00000413223:R48W	ENSP00000313670:R48W	R	-	1	2	ALS2CL	46704752	0.003000	0.15002	0.255000	0.24374	0.221000	0.24807	0.312000	0.19397	1.098000	0.41479	-0.196000	0.12772	CGG		0.612	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		32	176	0	0	0	1	0	32	176					A	46729748	G	A	46729748	3	1	114	1	0	0	0	0	1	0	0	0	551	1086	38	1	2815	1	ALS2CL	3	46729748	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1093205	46729748	151292682	32	37042											
DNAH1	25981	broad.mit.edu	37	chr3	52392752	52392752	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggccatcagggcctaccccaCggtgagccgcccgcagcccg	13	19	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:52392752C>T	ENST00000420323.2	+	25	4526	c.4265C>T	c.(4264-4266)aCg>aTg	p.T1422M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1422	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTACCCCACGGTGAGCCGC	0.672																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.e25+1		dynein, axonemal, heavy chain 1							36	42	40					3																	52392752		2154	4260	6414	SO:0001630	splice_region_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52392752C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4266+1C>T	3.37:g.52392752C>T							p.T1422_splice	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	25	4526	+			1422			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Splice_Site	SNP	ENST00000420323.2	37	c.4266_splice	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	c	14.44	2.535864	0.45176	.	.	ENSG00000114841	ENST00000420323	T	0.57752	0.38	5.4	-1.98	0.07480	.	1.606480	0.03543	N	0.224331	T	0.55353	0.1915	M	0.85197	2.74	0.09310	N	1	P	0.38767	0.646	B	0.36989	0.238	T	0.52223	-0.8604	10	0.52906	T	0.07	.	6.2438	0.20805	0.4428:0.3398:0.0:0.2173	.	1422	C9JXH6	.	M	1422	ENSP00000401514:T1422M	ENSP00000401514:T1422M	T	+	2	0	DNAH1	52367792	0.000000	0.05858	0.032000	0.17829	0.425000	0.31504	0.412000	0.21131	-0.236000	0.09753	-0.119000	0.15052	ACG		0.672	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	Missense_Mutation	21	171	0	0	0	1	0	21	171					T	52392752	C	T	52392752	5	4	114	1	0	0	0	0	0	0	1	0	4613	550	19	1	4359	1	DNAH1	3	52392752	Splice_Site	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5663004	52392752	145629678	33	37043											
PROS1	5627	broad.mit.edu	37	chr3	93611912	93611912	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatcgatagattctgcGtacagtatcacgccttctga	10	9	3	3	rs374634410		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:93611912G>A	ENST00000394236.3	-	10	1336	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	PROS1_ENST00000407433.1_Silent_p.Y209Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	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)	TAGATTCTGCGTACAGTATCA	0.393																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(1018-1020)taC>taT		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	G		0,4406		0,0,2203	83	77	79		1020	2	1	3		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PROS1	NM_000313.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		340/677	93611912	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93611912G>A		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.1020C>T	3.37:g.93611912G>A						PROS1_ENST00000407433.1_Silent_p.Y209Y	p.Y340Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			10	1336	-			340			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.1020C>T	CCDS2923.1																																																																																				0.393	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		4	166	0	0	0	1	0	4	166					A	93611912	G	A	93611912	2	1	114	1	0	0	0	0	0	0	0	1	12605	1140	40	1		1	PROS1	3	93611912	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	41219160	93611912	104410518	34	37044											
OR5H1	26341	broad.mit.edu	37	chr3	97852400	97852400	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tcatcattcctttgttaaatCctatcatctacagtctgaga	4	10	5	1	rs267599953		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:97852400C>T	ENST00000354565.2	+	1	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, 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)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TTTGTTAAATCCTATCATCTA	0.363																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(859-861)Cct>Tct		olfactory receptor, family 5, subfamily H, member 1							91	97	95					3																	97852400		2203	4299	6502	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852400C>T	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.859C>T	3.37:g.97852400C>T	ENSP00000346575:p.Pro287Ser					RP11-343D2.11_ENST00000508964.1_RNA	p.P287S	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	859	+			287						Missense_Mutation	SNP	ENST00000354565.2	37	c.859C>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212625	0.22289	.	.	ENSG00000231192	ENST00000354565	T	0.63417	-0.04	3.38	3.38	0.38709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000271	T	0.68833	0.3044	M	0.88842	2.985	0.35061	D	0.761587	B	0.33238	0.403	B	0.37239	0.244	T	0.81182	-0.1049	10	0.87932	D	0	.	12.2602	0.54647	0.0:1.0:0.0:0.0	.	287	A6NKK0	OR5H1_HUMAN	S	287	ENSP00000346575:P287S	ENSP00000346575:P287S	P	+	1	0	OR5H1	99335090	1.000000	0.71417	0.685000	0.30070	0.005000	0.04900	6.901000	0.75693	1.712000	0.51347	0.195000	0.17529	CCT		0.363	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		66	302	0	0	0	1	0	66	302					T	97852400	C	T	97852400	3	4	114	1	0	0	0	0	1	0	0	0	11201	855	30	2	861	2	OR5H1	3	97852400	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4240488	97852400	100170030	35	37045											
PVRL3	25945	broad.mit.edu	37	chr3	110852707	110852707	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctgctataggagaagacGgacgtttcgtggagactact	12	7	1	3	rs15611		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:110852707G>A	ENST00000485303.1	+	6	1570	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	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	432			R -> L (in dbSNP:rs15611).		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						AGGAGAAGACGGACGTTTCGT	0.413																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(1294-1296)cGg>cAg		poliovirus receptor-related 3							142	140	141					3																	110852707		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852707G>A	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.1295G>A	3.37:g.110852707G>A	ENSP00000418070:p.Arg432Gln					PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	p.R432Q	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			6	1570	+			432		R -> L (in dbSNP:rs15611).			E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.1295G>A	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181044	0.38511	.	.	ENSG00000177707	ENST00000485303	T	0.15834	2.39	5.87	5.87	0.94306	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.064498	0.64402	D	0.000010	T	0.08714	0.0216	N	0.21097	0.63	0.80722	D	1	P	0.48503	0.911	B	0.28991	0.097	T	0.16660	-1.0395	10	0.33940	T	0.23	.	11.0918	0.48121	0.0834:0.0:0.9166:0.0	.	432	Q9NQS3	PVRL3_HUMAN	Q	432	ENSP00000418070:R432Q	ENSP00000418070:R432Q	R	+	2	0	PVRL3	112335397	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.640000	0.67875	2.801000	0.96364	0.454000	0.30748	CGG		0.413	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		97	382	0	0	0	1	0	97	382					A	110852707	G	A	110852707	3	1	114	1	0	0	0	0	1	0	0	0	12891	1116	39	1	1317	1	PVRL3	3	110852707	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	13000307	110852707	87169723	36	37046											
ATP2C1	27032	broad.mit.edu	37	chr3	130718462	130718462	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	actagttatttactttcctcCgcttcagaaggtttttcaga	6	9	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:130718462C>G	ENST00000510168.1	+	27	3138	c.2588C>G	c.(2587-2589)cCg>cGg	p.P863R	ATP2C1_ENST00000513801.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.P808R|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P863R|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P897R|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000508532.1_Missense_Mutation_p.P863R|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000328560.8_Missense_Mutation_p.P863R|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P847R|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P858R			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	863					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)	TACTTTCCTCCGCTTCAGAAG	0.343									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(2587-2589)cCg>cGg		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						112	105	108					3																	130718462		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130718462C>G	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.2588C>G	3.37:g.130718462C>G	ENSP00000427461:p.Pro863Arg					ATP2C1_ENST00000508532.1_Missense_Mutation_p.P863R|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000513801.1_Missense_Mutation_p.P847R|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P863R|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P897R|ATP2C1_ENST00000328560.8_Missense_Mutation_p.P863R|ATP2C1_ENST00000504381.1_Missense_Mutation_p.P808R|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P858R|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P863R|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P847R|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P847R	p.P863R			P98194	AT2C1_HUMAN			27	3138	+			863					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.2588C>G	CCDS46914.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.678165|4.678165	0.88542|0.88542	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89123|.	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47|.	5.91|5.91	5.91|5.91	0.95273|0.95273	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87107|0.87107	0.6095|0.6095	M|M	0.92833|0.92833	3.35|3.35	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.91635|.	0.999;0.999;0.996;0.999;0.996;0.999;0.999|.	D|D	0.89107|0.89107	0.3493|0.3493	10|5	0.41790|.	T|.	0.15|.	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	897;858;897;863;897;863;863|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	R|G	847;808;847;897;858;863;863;847;847;863;863;863;863;862|817	ENSP00000423774:P847R;ENSP00000425320:P808R;ENSP00000421326:P847R;ENSP00000376914:P897R;ENSP00000432956:P858R;ENSP00000427461:P863R;ENSP00000424783:P863R;ENSP00000423330:P847R;ENSP00000422872:P847R;ENSP00000329664:P863R;ENSP00000395809:P863R;ENSP00000352665:P863R;ENSP00000402677:P863R|.	ENSP00000329664:P863R|.	P|R	+|+	2|1	0|0	ATP2C1|ATP2C1	132201152|132201152	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.925000|0.925000	0.55904|0.55904	7.812000|7.812000	0.86109|0.86109	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.343	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		39	199	0	0	0	1	0	39	199					G	130718462	C	G	130718462	3	3	114	1	0	0	0	0	1	0	0	0	1144	652	23	5	2690	5	ATP2C1	3	130718462	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	19865755	130718462	67303968	37	37047											
DNAJC13	23317	broad.mit.edu	37	chr3	132175223	132175223	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagtagagagccttcacctCaggttcttagctacgcctcc	9	13	3	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:132175223C>A	ENST00000260818.6	+	10	1325	c.1077C>A	c.(1075-1077)ctC>ctA	p.L359L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	359					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						GCCTTCACCTCAGGTTCTTAG	0.378																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(1075-1077)ctC>ctA		DnaJ (Hsp40) homolog, subfamily C, member 13							93	88	90					3																	132175223		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132175223C>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1077C>A	3.37:g.132175223C>A						DNAJC13_ENST00000486798.1_3'UTR	p.L359L	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			10	1325	+			359					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.1077C>A	CCDS33857.1																																																																																				0.378	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		47	210	1	0	4.86159e-25	1	5.15924e-25	47	210					A	132175223	C	A	132175223	2	1	114	1	0	0	0	0	0	0	0	1	4648	813	29	3		3	DNAJC13	3	132175223	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1456761	132175223	65847207	38	37048											
CPA3	1359	broad.mit.edu	37	chr3	148599357	148599357	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttatgaccaaactcttggacCgaatgaatttttacattctt	5	8	2	2	rs141357361	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr3:148599357C>T	ENST00000296046.3	+	7	677	c.625C>T	c.(625-627)Cga>Tga	p.R209*	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	209					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R209R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCTTGGACCGAATGAATTT	0.343																																						ENST00000296046.3																			1	Substitution - coding silent(1)	p.R209R(1)	lung(1)	NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(625-627)Cga>Tga		carboxypeptidase A3 (mast cell)							124	121	122					3																	148599357		2203	4300	6503	SO:0001587	stop_gained	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148599357C>T		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.625C>T	3.37:g.148599357C>T	ENSP00000296046:p.Arg209*					RP11-680B3.2_ENST00000488190.1_RNA	p.R209*	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		7	677	+			209					Q96E94	Nonsense_Mutation	SNP	ENST00000296046.3	37	c.625C>T	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071142	0.76301	.	.	ENSG00000163751	ENST00000296046	.	.	.	5.06	3.09	0.35607	.	0.546116	0.18299	N	0.145492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.9886	0.47537	0.5206:0.4794:0.0:0.0	.	.	.	.	X	209	.	ENSP00000296046:R209X	R	+	1	2	CPA3	150082047	0.162000	0.22906	0.643000	0.29450	0.200000	0.23975	1.401000	0.34589	1.325000	0.45301	-0.182000	0.12963	CGA		0.343	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		32	222	0	0	0	1	0	32	222					T	148599357	C	T	148599357	4	4	114	1	0	0	0	0	0	1	0	0	3800	644	23	1	651	1	CPA3	3	148599357	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	16424134	148599357	49423073	39	37049											
GBA3	57733	broad.mit.edu	37	chr4	22749669	22749669	+	RNA	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaatgtggattggaTctacgtggtaccatggggag	15	4	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:22749669T>G	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGATTGGATCTACGTGGTA	0.383																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							36	34	35					4																	22749669		1836	4091	5927			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749669T>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"klotho-related protein"	606619	"glucosidase, beta, acid 3 (cytosolic)"			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749669T>G						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	377	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.383	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			12	63	0	0	0	1	0	12	63					G	22749669	T	G	22749669	1	3	114	0	1	0	0	0	0	0	0	0	6296	1435	50	4		4	GBA3	4	22749669	RNA	SNP	T	TCGA-US-A77E-01A-11D-A32N-08		22749669	168404607	40	37050											
BMP2K	55589	broad.mit.edu	37	chr4	79792164	79792166	+	In_Frame_Del	DEL	CAC	CAC	-													agcagcagcagcagcagcagCaccaccaccaccaccaccac					rs202184856|rs200441916	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:79792164_79792166delCAC	ENST00000335016.5	+	11	1625_1627	c.1459_1461delCAC	c.(1459-1461)cacdel	p.H494del	BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	494	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcaccaccaccacc	0.502																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1459-1461)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792164_79792166delCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1459_1461delCAC	4.37:g.79792173_79792175delCAC	ENSP00000334836:p.His494del					BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1625_1627	+			494			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1459_1461delCAC	CCDS47083.1																																																																																				0.502	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		19	199						19	199	---	---	---	---	-	79792166	CAC	-	79792164	7	5	114	1	0	1	0	1	0	0	0	0	1462	710	25	0	1501	0	BMP2K	4	79792164	In_Frame_Del	DEL	CAC	TCGA-US-A77E-01A-11D-A32N-08	57042495	79792164	111362112	41	37051											
ATOH1	474	broad.mit.edu	37	chr4	94750654	94750656	+	In_Frame_Del	DEL	AAG	AAG	-													tcccgtcgttcaacaacgacAagaagctgtccaaatatgag							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:94750654_94750656delAAG	ENST00000306011.3	+	1	613_615	c.577_579delAAG	c.(577-579)aagdel	p.K194del		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	194	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAACAACGACAAGAAGCTGTCCA	0.596																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(577-579)del		atonal homolog 1 (Drosophila)																																				SO:0001651	inframe_deletion	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750654_94750656delAAG	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"Basic helix-loop-helix proteins"	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.577_579delAAG	4.37:g.94750657_94750659delAAG	ENSP00000302216:p.Lys194del						p.K194del	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	613_615	+		Hepatocellular(203;0.114)	194			Helix-loop-helix motif.		Q14CT9	In_Frame_Del	DEL	ENST00000306011.3	37	c.577_579delAAG	CCDS3638.1																																																																																				0.596	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		15	277						15	277	---	---	---	---	-	94750656	AAG	-	94750654	7	5	114	1	0	1	0	1	0	0	0	0	1113	131	5	0	579	0	ATOH1	4	94750654	In_Frame_Del	DEL	AAG	TCGA-US-A77E-01A-11D-A32N-08	14958490	94750654	96403622	42	37052											
TBC1D9	23158	broad.mit.edu	37	chr4	141622724	141622724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattcggtaaggagcgacccGggcgctggagtccaacacaa	14	11	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:141622724G>A	ENST00000442267.2	-	2	249	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	Y_RNA_ENST00000384426.1_RNA	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	59							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)				GGAGCGACCCGGGCGCTGGAG	0.517																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(175-177)Cgg>Tgg		TBC1 domain family, member 9 (with GRAM domain)							58	59	59					4																	141622724		1916	4122	6038	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141622724G>A	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.175C>T	4.37:g.141622724G>A	ENSP00000411197:p.Arg59Trp						p.R59W	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			2	249	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	59					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.175C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148616	0.78001	.	.	ENSG00000109436	ENST00000442267	T	0.23552	1.9	5.39	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51403	-0.8710	10	0.87932	D	0	-4.7968	10.5771	0.45233	0.0:0.0:0.4702:0.5298	.	59	Q6ZT07	TBCD9_HUMAN	W	59	ENSP00000411197:R59W	ENSP00000411197:R59W	R	-	1	2	TBC1D9	141842174	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	4.245000	0.58734	1.314000	0.45095	0.655000	0.94253	CGG		0.517	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		31	159	0	0	0	1	0	31	159					A	141622724	G	A	141622724	3	1	114	1	0	0	0	0	1	0	0	0	15679	1115	39	1	3705	1	TBC1D9	4	141622724	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	46872070	141622724	49531552	43	37053											
ODZ3	55714	broad.mit.edu	37	chr4	183522232	183522232	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggccccgccggctgctttgCccgccgagctgcaaaccaca	11	19	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr4:183522232C>T	ENST00000511685.1	+	4	790	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	TENM3_ENST00000406950.2_Missense_Mutation_p.P223S			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	223	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)										GGCTGCTTTGCCCGCCGAGCT	0.542																																						ENST00000511685.1																			0											c.(667-669)Ccc>Tcc		teneurin transmembrane protein 3							70	80	77					4																	183522232		1887	4105	5992	SO:0001583	missense	55714							g.chr4:183522232C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.667C>T	4.37:g.183522232C>T	ENSP00000424226:p.Pro223Ser					TENM3_ENST00000406950.2_Missense_Mutation_p.P223S	p.P223S							4	790	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.667C>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479129	0.63849	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.28454	1.61;1.61;1.61	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.32133	0.0819	L	0.35854	1.095	0.53005	D	0.999966	P	0.38300	0.626	B	0.39465	0.3	T	0.03957	-1.0989	9	0.52906	T	0.07	.	20.0015	0.97412	0.0:1.0:0.0:0.0	.	223	Q9P273	TEN3_HUMAN	S	223;223;81	ENSP00000424226:P223S;ENSP00000385276:P223S;ENSP00000426914:P81S	ENSP00000385276:P223S	P	+	1	0	ODZ3	183759226	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.933000	0.70130	2.718000	0.92993	0.557000	0.71058	CCC		0.542	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			6	636	0	0	0	1	0	6	636					T	183522232	C	T	183522232	3	4	114	1	0	0	0	0	1	0	0	0	10878	739	26	2	677	2	ODZ3	4	183522232	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	41899508	183522232	7632044	44	37054											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	224						7	224	---	---	---	---	-	1879671	CCT	-	1879669	7	5	114	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-US-A77E-01A-11D-A32N-08		1879669	179035591	45	37055											
C7	730	broad.mit.edu	37	chr5	40981607	40981607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgagtgtgaggcgggcGctctgagatgcagagggcag	19	7	2	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:40981607G>A	ENST00000313164.9	+	18	2823	c.2464G>A	c.(2464-2466)Gct>Act	p.A822T		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	822	Factor I module (FIM) 2.			GA -> AL (in Ref. 3). {ECO:0000305}.	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)				TGAGGCGGGCGCTCTGAGATG	0.567																																						ENST00000313164.9																			0											c.(2464-2466)Gct>Act		complement component 7							60	62	61					5																	40981607		2106	4232	6338	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981607G>A	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.2464G>A	5.37:g.40981607G>A	ENSP00000322061:p.Ala822Thr						p.A822T	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			18	2823	+		Ovarian(839;0.0112)	822	GA -> AL (in Ref. 3).		Complement control factor I module 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2464G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	4.186	0.033170	0.08101	.	.	ENSG00000112936	ENST00000313164	T	0.65364	-0.15	5.83	-0.108	0.13588	Factor I / membrane attack complex (1);	1.811360	0.02513	N	0.091774	T	0.48857	0.1523	L	0.37850	1.14	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10200	-1.0640	10	0.27082	T	0.32	0.8429	2.9604	0.05890	0.462:0.1118:0.3117:0.1144	.	822	P10643	CO7_HUMAN	T	822	ENSP00000322061:A822T	ENSP00000322061:A822T	A	+	1	0	C7	41017364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.255000	0.08769	-0.082000	0.12640	-0.992000	0.02543	GCT		0.567	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			24	100	0	0	0	1	0	24	100					A	40981607	G	A	40981607	3	1	114	1	0	0	0	0	1	0	0	0	2382	1087	38	1	2534	1	C7	5	40981607	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	39101938	40981607	139933653	46	37056											
VCAN	1462	broad.mit.edu	37	chr5	82876174	82876174	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	gaaatactttaaaaattcctCatcagcaaaggacaattcaa	4	8	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:82876174C>T	ENST00000265077.3	+	15	10677	c.10112C>T	c.(10111-10113)tCa>tTa	p.S3371L	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.S1569L|VCAN_ENST00000343200.5_Missense_Mutation_p.S2384L|VCAN_ENST00000342785.4_Missense_Mutation_p.S1617L|VCAN_ENST00000502527.2_Missense_Mutation_p.S630L|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3371					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)	AAAAATTCCTCATCAGCAAAG	0.393																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(10111-10113)tCa>tTa		versican							77	82	80					5																	82876174		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82876174C>T	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.10112C>T	5.37:g.82876174C>T	ENSP00000265077:p.Ser3371Leu					VCAN_ENST00000343200.5_Missense_Mutation_p.S2384L|VCAN_ENST00000342785.4_Missense_Mutation_p.S1617L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Missense_Mutation_p.S630L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.S1569L	p.S3371L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	15	10677	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3371					P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.10112C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957027	0.53293	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	D;D;D;D;D	0.87029	-2.19;-2.2;-1.94;-1.94;-1.85	5.8	5.8	0.92144	.	0.000000	0.44483	D	0.000456	D	0.89750	0.6805	N	0.24115	0.695	0.38290	D	0.942687	D;B;P;D	0.89917	0.999;0.386;0.502;1.0	D;B;B;D	0.74023	0.964;0.23;0.403;0.982	D	0.91528	0.5240	10	0.72032	D	0.01	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	1617;630;2384;3371	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	L	3371;2384;1617;1569;630	ENSP00000265077:S3371L;ENSP00000340062:S2384L;ENSP00000342768:S1617L;ENSP00000425959:S1569L;ENSP00000421362:S630L	ENSP00000265077:S3371L	S	+	2	0	VCAN	82911930	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.512000	0.60469	2.744000	0.94065	0.655000	0.94253	TCA		0.393	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		59	186	0	0	0	1	0	59	186					T	82876174	C	T	82876174	3	4	114	1	0	0	0	0	1	0	0	0	17192	838	29	2	10166	2	VCAN	5	82876174	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	41894567	82876174	98039086	47	37057											
PCDHA5	56143	broad.mit.edu	37	chr5	140201497	140201497	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acacggaaccttcgttggccGcatcgcgcaggacctagggc	13	14	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:140201497G>A	ENST00000529859.1	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R46H|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R46H|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	46	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R46H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTTGGCCGCATCGCGCAG	0.657																																						ENST00000529859.1																			2	Substitution - Missense(2)	p.R46H(2)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(136-138)cGc>cAc									56	64	61					5																	140201497		2203	4300	6503	SO:0001583	missense	0							g.chr5:140201497G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.137G>A	5.37:g.140201497G>A	ENSP00000436557:p.Arg46His					PCDHA5_ENST00000378126.3_Missense_Mutation_p.R46H|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R46H|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R46H	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	137	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.137G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294143	0.60086	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.27256	1.68;1.68;1.68	3.87	2.98	0.34508	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.25827	0.0629	M	0.63428	1.95	0.25612	N	0.986495	P;P;P	0.46987	0.848;0.888;0.609	B;B;B	0.38803	0.282;0.253;0.185	T	0.11275	-1.0594	9	0.72032	D	0.01	.	10.3243	0.43783	0.1721:0.0:0.8279:0.0	.	46;46;46	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	H	46	ENSP00000433416:R46H;ENSP00000436557:R46H;ENSP00000367366:R46H	ENSP00000367366:R46H	R	+	2	0	PCDHA5	140181681	0.004000	0.15560	1.000000	0.80357	0.960000	0.62799	1.772000	0.38552	0.719000	0.32188	0.585000	0.79938	CGC		0.657	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		7	479	0	0	0	1	0	7	479					A	140201497	G	A	140201497	3	1	114	1	0	0	0	0	1	0	0	0	11569	1087	38	1	139	1	PCDHA5	5	140201497	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	57325323	140201497	40713763	48	37058											
FOXI1	2299	broad.mit.edu	37	chr5	169533243	169533243	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctatggagtgcagaggccGctgctgcccagcgtgtcggg	17	12	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:169533243G>A	ENST00000306268.6	+	1	343	c.282G>A	c.(280-282)ccG>ccA	p.P94P	FOXI1_ENST00000449804.2_Silent_p.P94P			Q12951	FOXI1_HUMAN	forkhead box I1	94	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCAGAGGCCGCTGCTGCCCA	0.697									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(280-282)ccG>ccA		forkhead box I1							9	8	9					5																	169533243		2184	4261	6445	SO:0001819	synonymous_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533243G>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"Forkhead boxes"	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.282G>A	5.37:g.169533243G>A						FOXI1_ENST00000306268.6_Silent_p.P94P	p.P94P	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	327	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	94			Pro-rich.		Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.282G>A	CCDS4372.1																																																																																				0.697	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		9	37	0	0	0	1	0	9	37					A	169533243	G	A	169533243	2	1	114	1	0	0	0	0	0	0	0	1	6036	1074	38	1		1	FOXI1	5	169533243	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	29331746	169533243	11382017	49	37059											
STC2	8614	broad.mit.edu	37	chr5	172744926	172744926	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtccctgagccccaaggCccccgactctgcctcgggca	11	18	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr5:172744926C>T	ENST00000265087.4	-	4	2142	c.833G>A	c.(832-834)gGc>gAc	p.G278D	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	278					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGCCCCAAGGCCCCCGACTCT	0.612																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(832-834)gGc>gAc		stanniocalcin 2							77	81	80					5																	172744926		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172744926C>T	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.833G>A	5.37:g.172744926C>T	ENSP00000265087:p.Gly278Asp						p.G278D	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	2142	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	278						Missense_Mutation	SNP	ENST00000265087.4	37	c.833G>A	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978009	0.34942	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.31	1.1	0.20463	.	0.502817	0.22661	N	0.057194	T	0.22205	0.0535	N	0.24115	0.695	0.09310	N	0.999996	B	0.10296	0.003	B	0.09377	0.004	T	0.10064	-1.0646	9	0.38643	T	0.18	-5.3352	2.7467	0.05268	0.2356:0.2927:0.3461:0.1256	.	278	O76061	STC2_HUMAN	D	278	.	ENSP00000265087:G278D	G	-	2	0	STC2	172677532	0.000000	0.05858	0.000000	0.03702	0.913000	0.54294	-0.238000	0.08977	0.181000	0.19994	0.650000	0.86243	GGC		0.612	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		123	497	0	0	0	1	0	123	497					T	172744926	C	T	172744926	3	4	114	1	0	0	0	0	1	0	0	0	15328	739	26	2	79	2	STC2	5	172744926	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3211683	172744926	8170334	50	37060											
PHACTR1	221692	broad.mit.edu	37	chr6	13206098	13206098	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgaaactgtcgcctcCgctacctccaaagaaagtca	8	14	1	2	rs549074819		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:13206098C>T	ENST00000379350.1	+	7	845	c.716C>T	c.(715-717)cCg>cTg	p.P239L	PHACTR1_ENST00000457702.2_Missense_Mutation_p.P94L|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P239L			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	239					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)			CTGTCGCCTCCGCTACCTCCA	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18938	0.0		0.0	False		,,,				2504	0.0					ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(715-717)cCg>cTg		phosphatase and actin regulator 1							58	62	61					6																	13206098		1968	4153	6121	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206098C>T	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.716C>T	6.37:g.13206098C>T	ENSP00000368655:p.Pro239Leu					PHACTR1_ENST00000332995.7_Missense_Mutation_p.P239L|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Missense_Mutation_p.P94L	p.P239L			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	845	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	239					A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37	c.716C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.605951|4.605951	0.87157|0.87157	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.44482|.	0.92;1.13;1.25|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44871|0.44871	0.1314|0.1314	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.992;0.997;0.998|.	T|T	0.34502|0.34502	-0.9826|-0.9826	10|5	0.72032|.	D|.	0.01|.	-16.0863|-16.0863	17.7928|17.7928	0.88561|0.88561	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	308;239;239|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	L|C	239;239;308;94|74	ENSP00000368655:P239L;ENSP00000329880:P239L;ENSP00000397669:P94L|.	ENSP00000329880:P239L|.	P|R	+|+	2|1	0|0	PHACTR1|PHACTR1	13314077|13314077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.012000|7.012000	0.76366|0.76366	2.665000|2.665000	0.90641|0.90641	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.587	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		5	355	0	0	0	1	0	5	355					T	13206098	C	T	13206098	3	4	114	1	0	0	0	0	1	0	0	0	11851	652	23	1	738	1	PHACTR1	6	13206098	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		13206098	157908969	51	37061											
NUP153	9972	broad.mit.edu	37	chr6	17706578	17706578	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacgccgcgtccggatcttgCcgccaccgccccctccgact	9	21	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:17706578C>T	ENST00000262077.2	-	1	40	c.41G>A	c.(40-42)gGc>gAc	p.G14D	RP11-500C11.3_ENST00000606771.1_RNA|NUP153_ENST00000537253.1_Missense_Mutation_p.G14D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	14	Gly-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)|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)			CCGGATCTTGCCGCCACCGCC	0.726																																						ENST00000262077.2																			0				NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53						c.(40-42)gGc>gAc		nucleoporin 153kDa							53	45	48					6																	17706578		2201	4299	6500	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17706578C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.41G>A	6.37:g.17706578C>T	ENSP00000262077:p.Gly14Asp					NUP153_ENST00000537253.1_Missense_Mutation_p.G14D|RP11-500C11.3_ENST00000606771.1_RNA	p.G14D	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		1	40	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	14			Gly-rich.		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.41G>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008788	0.75046	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.35048	1.33;1.43	3.12	3.12	0.35913	.	0.000000	0.35525	N	0.003147	T	0.40015	0.1100	L	0.46157	1.445	0.42084	D	0.991265	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.33548	-0.9864	10	0.87932	D	0	-8.5848	10.0092	0.41975	0.0:1.0:0.0:0.0	.	14;36;14	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	D	14;36;14	ENSP00000262077:G14D;ENSP00000444029:G14D	ENSP00000262077:G14D	G	-	2	0	NUP153	17814557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.110000	0.50352	2.085000	0.62840	0.591000	0.81541	GGC		0.726	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			6	257	0	0	0	1	0	6	257					T	17706578	C	T	17706578	3	4	114	1	0	0	0	0	1	0	0	0	10797	739	26	2	4474	2	NUP153	6	17706578	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4500480	17706578	153408489	52	37062											
TNXB	7148	broad.mit.edu	37	chr6	32046862	32046862	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccctcgtggaggccGtacaggtgcatcttgtactt	12	13	1	0	rs369938377		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:32046862G>A	ENST00000375244.3	-	11	4524	c.4323C>T	c.(4321-4323)taC>taT	p.Y1441Y	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Silent_p.Y1441Y			P22105	TENX_HUMAN	tenascin XB	1528					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						CGTGGAGGCCGTACAGGTGCA	0.697																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4321-4323)taC>taT		tenascin XB		G		1,2591		0,1,1295	54	62	59		4323	-5.5	0.7	6		59	0,5136		0,0,2568	no	coding-synonymous	TNXB	NM_019105.6		0,1,3863	AA,AG,GG		0.0,0.0386,0.0129		1441/4243	32046862	1,7727	1296	2568	3864	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046862G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4323C>T	6.37:g.32046862G>A						TNXB_ENST00000375247.2_Silent_p.Y1441Y	p.Y1441Y			P22105	TENX_HUMAN			11	4524	-			1528					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.4323C>T																																																																																					0.697	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	376	0	0	0	1	0	5	376					A	32046862	G	A	32046862	2	1	114	1	0	0	0	0	0	0	0	1	16398	1140	40	1		1	TNXB	6	32046862	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14340284	32046862	139068205	53	37063											
DST	667	broad.mit.edu	37	chr6	56492887	56492887	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtagtttcaacctgctggatCcaatcatctaaaggatggta	9	8	3	0	rs149154059		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:56492887C>T	ENST00000361203.3	-	29	3922	c.3915G>A	c.(3913-3915)tgG>tgA	p.W1305*	DST_ENST00000370788.2_Nonsense_Mutation_p.W1305*|DST_ENST00000244364.6_Nonsense_Mutation_p.W979*|DST_ENST00000370765.6_Nonsense_Mutation_p.W979*|DST_ENST00000370754.5_Nonsense_Mutation_p.W1483*|DST_ENST00000446842.2_Nonsense_Mutation_p.W979*|DST_ENST00000312431.6_Nonsense_Mutation_p.W1305*|DST_ENST00000518935.1_Nonsense_Mutation_p.W979*|DST_ENST00000421834.2_Nonsense_Mutation_p.W1305*|DST_ENST00000370769.4_Nonsense_Mutation_p.W1305*			Q03001	DYST_HUMAN	dystonin	1305					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)			CCTGCTGGATCCAATCATCTA	0.403																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4447-4449)tgG>tgA		dystonin							141	131	134					6																	56492887		2203	4300	6503	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56492887C>T	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.3915G>A	6.37:g.56492887C>T	ENSP00000354508:p.Trp1305*					DST_ENST00000312431.6_Nonsense_Mutation_p.W1305*|DST_ENST00000518935.1_Nonsense_Mutation_p.W979*|DST_ENST00000370765.6_Nonsense_Mutation_p.W979*|DST_ENST00000244364.6_Nonsense_Mutation_p.W979*|DST_ENST00000370769.4_Nonsense_Mutation_p.W1305*|DST_ENST00000446842.2_Nonsense_Mutation_p.W979*|DST_ENST00000421834.2_Nonsense_Mutation_p.W1305*|DST_ENST00000361203.3_Nonsense_Mutation_p.W1305*|DST_ENST00000370788.2_Nonsense_Mutation_p.W1305*	p.W1483*			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		32	4448	-	Lung NSC(77;0.103)		1305					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.4449G>A		.	.	.	.	.	.	.	.	.	.	C	42	9.322677	0.99137	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.	.	.	5.45	5.45	0.79879	.	0.000000	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6695	0.95905	0.0:1.0:0.0:0.0	.	.	.	.	X	979;1483;1305;1305;979;1305;1305;1305;979;1345;979;979	.	ENSP00000244364:W979X	W	-	3	0	DST	56600846	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.880000	0.69698	2.701000	0.92244	0.650000	0.86243	TGG		0.403	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	252	0	0	0	1	0	15	252					T	56492887	C	T	56492887	4	4	114	1	0	0	0	0	0	1	0	0	4799	856	30	2	17482	2	DST	6	56492887	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	24446025	56492887	114622180	54	37064											
COL12A1	1303	broad.mit.edu	37	chr6	75901461	75901461	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttctccactggctttgtcGaactacctgtttgaactaag	7	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:75901461G>A	ENST00000322507.8	-	5	659	c.350C>T	c.(349-351)tCg>tTg	p.S117L	COL12A1_ENST00000483888.2_Missense_Mutation_p.S117L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S117L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	117	Fibronectin type-III 1. {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						TGGCTTTGTCGAACTACCTGT	0.299																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(349-351)tCg>tTg		collagen, type XII, alpha 1							142	135	137					6																	75901461		1798	4055	5853	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75901461G>A	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.350C>T	6.37:g.75901461G>A	ENSP00000325146:p.Ser117Leu					COL12A1_ENST00000483888.2_Missense_Mutation_p.S117L|COL12A1_ENST00000416123.2_Missense_Mutation_p.S117L|COL12A1_ENST00000345356.6_Intron	p.S117L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			5	659	-			117					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.350C>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967274	0.34754	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.86769	-2.17;-2.16;-2.15	5.97	5.97	0.96955	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.488510	0.20737	N	0.086602	T	0.56232	0.1971	N	0.08118	0	0.21579	N	0.99963	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	10	0.22706	T	0.39	.	8.1231	0.30982	0.0784:0.0:0.7627:0.1589	.	117	Q99715	COCA1_HUMAN	L	117	ENSP00000325146:S117L;ENSP00000412864:S117L;ENSP00000421216:S117L	ENSP00000325146:S117L	S	-	2	0	COL12A1	75958181	0.123000	0.22298	0.822000	0.32727	0.868000	0.49771	1.943000	0.40253	2.833000	0.97629	0.585000	0.79938	TCG		0.299	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		47	306	0	0	0	1	0	47	306					A	75901461	G	A	75901461	3	1	114	1	0	0	0	0	1	0	0	0	3678	1059	37	1	9089	1	COL12A1	6	75901461	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	19408574	75901461	95213606	55	37065											
SERINC1	57515	broad.mit.edu	37	chr6	122773086	122773086	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accaacgcagaggagcatgtTgacactgatgaacgccttgt	11	10	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:122773086T>C	ENST00000339697.4	-	6	790	c.706A>G	c.(706-708)Aac>Gac	p.N236D		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	236					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)		AGGAGCATGTTGACACTGATG	0.393																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(706-708)Aac>Gac		serine incorporator 1							100	89	93					6																	122773086		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122773086T>C	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.706A>G	6.37:g.122773086T>C	ENSP00000342962:p.Asn236Asp					SERINC1_ENST00000339697.3_Missense_Mutation_p.N236D	p.N236D			Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	8	1035	-			236					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.706A>G	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	T	32	5.185893	0.94885	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.20069	2.1;2.1	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	H	0.95917	3.74	0.80722	D	1	D	0.58268	0.982	D	0.72075	0.976	T	0.70699	-0.4800	10	0.87932	D	0	-14.7994	15.9701	0.80008	0.0:0.0:0.0:1.0	.	236	Q9NRX5	SERC1_HUMAN	D	236	ENSP00000342962:N236D;ENSP00000357439:N236D	ENSP00000342962:N236D	N	-	1	0	SERINC1	122814785	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.166000	0.68216	0.528000	0.53228	AAC		0.393	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		53	196	0	0	0	1	0	53	196					C	122773086	T	C	122773086	3	2	114	1	0	0	0	0	1	0	0	0	14129	1812	63	4	675	4	SERINC1	6	122773086	Missense_Mutation	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	46871625	122773086	48341981	56	37066											
TRDN	10345	broad.mit.edu	37	chr6	123539785	123539785	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggagaatttgcttgAccagagctctctccagggcg	12	11	1	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr6:123539785A>G	ENST00000398178.3	-	41	2172	c.2151T>C	c.(2149-2151)ggT>ggC	p.G717G	TRDN_ENST00000334268.4_Silent_p.G709G	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	717					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)		AATTTGCTTGACCAGAGCTCT	0.438																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(2125-2127)ggT>ggC		triadin							114	107	109					6																	123539785		1887	4114	6001	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123539785A>G	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.2151T>C	6.37:g.123539785A>G						TRDN_ENST00000398178.3_Silent_p.G717G	p.G709G			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	40	2444	-			717					A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.2127T>C	CCDS55053.1																																																																																				0.438	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				18	97	0	0	0	1	0	18	97					G	123539785	A	G	123539785	2	3	114	1	0	0	0	0	0	0	0	1	16521	262	10	4		4	TRDN	6	123539785	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	766699	123539785	47575282	57	37067											
CARD11	84433	broad.mit.edu	37	chr7	2984085	2984085	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggccagcagctcgcagcGttgcaggtccttggccttca	12	15	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:2984085G>A	ENST00000396946.4	-	5	848	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	149					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)		AGCTCGCAGCGTTGCAGGTCC	0.607			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"caspase recruitment domain family, member 11"			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(445-447)Cgc>Tgc		caspase recruitment domain family, member 11							94	86	89					7																	2984085		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984085G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.445C>T	7.37:g.2984085G>A	ENSP00000380150:p.Arg149Cys					AC004906.3_ENST00000423194.1_RNA	p.R149C	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	848	-		Ovarian(82;0.0115)	149					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.445C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124918	0.56613	.	.	ENSG00000198286	ENST00000396946	T	0.35048	1.33	4.38	4.38	0.52667	.	0.370990	0.28766	N	0.014207	T	0.44265	0.1285	L	0.43152	1.355	0.58432	D	0.999992	D	0.76494	0.999	P	0.55871	0.786	T	0.42799	-0.9430	10	0.72032	D	0.01	-31.7767	12.44	0.55619	0.0:0.0:0.8323:0.1677	.	149	Q9BXL7	CAR11_HUMAN	C	149	ENSP00000380150:R149C	ENSP00000380150:R149C	R	-	1	0	CARD11	2950611	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.048000	0.57390	2.153000	0.67306	0.655000	0.94253	CGC		0.607	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		86	461	0	0	0	1	0	86	461					A	2984085	G	A	2984085	3	1	114	1	0	0	0	0	1	0	0	0	2652	1145	40	1	3103	1	CARD11	7	2984085	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		2984085	156154578	58	37068											
OSBPL3	26031	broad.mit.edu	37	chr7	24846473	24846473	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatttcatttaattccagcGcaaactgtgtgaagctatag	7	9	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:24846473G>A	ENST00000313367.2	-	21	2817	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	OSBPL3_ENST00000353930.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A722V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000396431.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A722V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	789					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAATTCCAGCGCAAACTGTGT	0.373																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(2365-2367)gCg>gTg		oxysterol binding protein-like 3							150	140	143					7																	24846473		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24846473G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2366C>T	7.37:g.24846473G>A	ENSP00000315410:p.Ala789Val					OSBPL3_ENST00000396431.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.A758V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.A722V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.A753V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.A722V	p.A789V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			21	2817	-			789					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.2366C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699512	0.96802	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.97;1.0	T	0.61023	-0.7146	10	0.33940	T	0.23	-17.4981	19.7968	0.96490	0.0:0.0:1.0:0.0	.	722;758;753;789	Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;OSBL3_HUMAN	V	789;758;753;722;758;753;722	ENSP00000315410:A789V;ENSP00000315331:A758V;ENSP00000315277:A753V;ENSP00000389779:A722V;ENSP00000379708:A758V;ENSP00000379706:A753V;ENSP00000386953:A722V	ENSP00000315410:A789V	A	-	2	0	OSBPL3	24812998	1.000000	0.71417	0.987000	0.45799	0.859000	0.49053	9.797000	0.99108	2.685000	0.91497	0.555000	0.69702	GCG		0.373	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			6	453	0	0	0	1	0	6	453					A	24846473	G	A	24846473	3	1	114	1	0	0	0	0	1	0	0	0	11321	1087	38	1	309	1	OSBPL3	7	24846473	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	21862388	24846473	134292190	59	37069											
TECPR1	25851	broad.mit.edu	37	chr7	97858456	97858456	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccaccatccgcaggtGgcctcccatctgccgccaaa	9	19	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:97858456G>T	ENST00000447648.2	-	16	2604	c.2305C>A	c.(2305-2307)Cac>Aac	p.H769N	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Missense_Mutation_p.H770N|TECPR1_ENST00000542604.1_Missense_Mutation_p.H699N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	769					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						ATCCGCAGGTGGCCTCCCATC	0.642																																						ENST00000447648.2																			0				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						c.(2305-2307)Cac>Aac		tectonin beta-propeller repeat containing 1							17	23	21					7																	97858456		1932	4115	6047	SO:0001583	missense	25851					integral to membrane	protein binding	g.chr7:97858456G>T		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.2305C>A	7.37:g.97858456G>T	ENSP00000404923:p.His769Asn					TECPR1_ENST00000379795.3_Missense_Mutation_p.H770N|TECPR1_ENST00000542604.1_Missense_Mutation_p.H699N	p.H769N			Q7Z6L1	TCPR1_HUMAN			16	2604	-			769					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	c.2305C>A	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208596	0.95069	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.49432	1.02;1.02;0.78	5.12	5.12	0.69794	.	0.051894	0.85682	D	0.000000	T	0.68449	0.3002	M	0.76002	2.32	0.50171	D	0.999851	D;D	0.58970	0.984;0.979	D;P	0.66084	0.941;0.761	T	0.72577	-0.4251	10	0.72032	D	0.01	-30.3075	17.6109	0.88053	0.0:0.0:1.0:0.0	.	699;769	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	N	769;770;699	ENSP00000404923:H769N;ENSP00000369121:H770N;ENSP00000441121:H699N	ENSP00000369121:H770N	H	-	1	0	TECPR1	97696392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.830000	0.99415	2.389000	0.81357	0.549000	0.68633	CAC		0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		7	27	1	0	0.000157383	1	0.000161101	7	27					T	97858456	G	T	97858456	3	4	114	1	0	0	0	0	1	0	0	0	15795	1348	47	3	1236	3	TECPR1	7	97858456	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	73011983	97858456	61280207	60	37070											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3	rs201349757		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	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.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		10	1416	0	0	0	1	0	10	1416					G	99913460	A	G	99913460	2	3	114	1	0	0	0	0	0	0	0	1	15082	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	2055004	99913460	59225203	61	37071											
MUC17	140453	broad.mit.edu	37	chr7	100676607	100676607	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aataacaagtatgtctgtcaGcaccacactggtggccagtt	9	10	2	0	rs547503221		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:100676607G>A	ENST00000306151.4	+	3	1974	c.1910G>A	c.(1909-1911)aGc>aAc	p.S637N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	637	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)					ATGTCTGTCAGCACCACACTG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		29148	0.0		0.001	False		,,,				2504	0.0					ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1909-1911)aGc>aAc		mucin 17, cell surface associated							274	277	276					7																	100676607		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676607G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1910G>A	7.37:g.100676607G>A	ENSP00000302716:p.Ser637Asn						p.S637N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1974	+	Lung NSC(181;0.136)|all_lung(186;0.182)		637			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1910G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.519	-0.547500	0.04024	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.647	-1.28	0.09318	.	.	.	.	.	T	0.01627	0.0052	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	B	0.40101	0.319	T	0.49844	-0.8896	9	0.19590	T	0.45	.	6.0112	0.19578	0.0:0.6344:0.3656:0.0	.	637	Q685J3	MUC17_HUMAN	N	637	ENSP00000302716:S637N	ENSP00000302716:S637N	S	+	2	0	MUC17	100463327	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.240000	0.01197	-0.327000	0.08551	0.395000	0.25975	AGC		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1836	0	0	0	1	0	9	1836					A	100676607	G	A	100676607	3	1	114	1	0	0	0	0	1	0	0	0	10015	971	34	2	1920	2	MUC17	7	100676607	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	763147	100676607	58462056	62	37072											
KIAA1549	57670	broad.mit.edu	37	chr7	138566147	138566147	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	taataaccttcctctgtgacGaacattcttggaagggatct	8	9	3	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:138566147G>C	ENST00000422774.1	-	11	4264	c.4216C>G	c.(4216-4218)Cgt>Ggt	p.R1406G	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1406G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1356G			Q9HCM3	K1549_HUMAN	KIAA1549	1406						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTCTGTGACGAACATTCTTG	0.502			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(4216-4218)Cgt>Ggt		KIAA1549							132	135	134					7																	138566147		1995	4168	6163	SO:0001583	missense	57670					integral to membrane		g.chr7:138566147G>C		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.4216C>G	7.37:g.138566147G>C	ENSP00000416040:p.Arg1406Gly					KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1406G|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1356G	p.R1406G	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			11	4264	-			1406					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.4216C>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221722	0.79464	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.27557	1.66;1.66;1.68	5.23	5.23	0.72850	.	0.101100	0.64402	D	0.000003	T	0.55242	0.1908	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.81914	0.995;0.965;0.991;0.965	T	0.56547	-0.7961	10	0.72032	D	0.01	.	17.5362	0.87832	0.0:0.0:1.0:0.0	.	1406;190;1406;190	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	G	1406;1356;1406	ENSP00000406661:R1406G;ENSP00000242365:R1356G;ENSP00000416040:R1406G	ENSP00000242365:R1356G	R	-	1	0	KIAA1549	138216687	1.000000	0.71417	0.942000	0.38095	0.793000	0.44817	5.140000	0.64807	2.716000	0.92895	0.655000	0.94253	CGT		0.502	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			68	383	0	0	0	1	0	68	383					C	138566147	G	C	138566147	3	2	114	1	0	0	0	0	1	0	0	0	8274	1058	37	5	1676	5	KIAA1549	7	138566147	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	37889540	138566147	20572516	63	37073											
BRAF	673	broad.mit.edu	37	chr7	140477831	140477845	+	In_Frame_Del	DEL	GAGGTGTAGGTGCTG	GAGGTGTAGGTGCTG	-													tttgaaggcttgtaactgctGaggtgtaggtgctgtcacat					rs375520366		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:140477831_140477845delGAGGTGTAGGTGCTG	ENST00000288602.6	-	12	1523_1537	c.1463_1477delCAGCACCTACACCTC	c.(1462-1479)acagcacctacacctcag>aag	p.488_493TAPTPQ>K		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.L485_P490>Y(2)|p.N486_P490del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TGTAACTGCTGAGGTGTAGGTGCTGTCACATTCAA	0.353		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"Mis, T, O"	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"AKAP9, KIAA1549"		"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	3	Complex - deletion inframe(2)|Deletion - In frame(1)	p.L485_P490>Y(2)|p.N486_P490del(1)	lung(2)|ovary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1462-1479)aag>a		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140477831_140477845delGAGGTGTAGGTGCTG	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.1463_1477delCAGCACCTACACCTC	7.37:g.140477831_140477845delGAGGTGTAGGTGCTG	ENSP00000288602:p.Thr488_Gln493delinsLys						p.TAPTPQ488del	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			12	1523_1537	-	Melanoma(164;0.00956)		488			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1463_1477delCAGCACCTACACCTC	CCDS5863.1																																																																																				0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		29	261						29	261	---	---	---	---	-	140477845	GAGGTGTAGGTGCTG	-	140477831	7	5	114	1	0	1	0	1	0	0	0	0	1500	1299	45	0	851	0	BRAF	7	140477831	In_Frame_Del	DEL	GAGGTGTAGGTGCTG	TCGA-US-A77E-01A-11D-A32N-08	1911684	140477831	18660832	64	37074											
ZNF212	7988	broad.mit.edu	37	chr7	148951330	148951330	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	actgtggcaagagcttcagtCacccatctgacttggtgcgg	12	11	3	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:148951330C>T	ENST00000335870.2	+	5	1440	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGCTTCAGTCACCCATCTGA	0.587																																						ENST00000335870.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9						c.(1312-1314)Cac>Tac		zinc finger protein 212							147	108	121					7																	148951330		2203	4300	6503	SO:0001583	missense	7988				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr7:148951330C>T	U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.1312C>T	7.37:g.148951330C>T	ENSP00000338572:p.His438Tyr						p.H438Y	NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)		5	1440	+	Melanoma(164;0.15)		438					B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	c.1312C>T	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789182	0.70337	.	.	ENSG00000170260	ENST00000335870	T	0.06528	3.29	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	0.53938	D	0.000051	T	0.10895	0.0266	N	0.19112	0.55	0.37851	D	0.92938	D	0.67145	0.996	D	0.65010	0.931	T	0.43147	-0.9409	10	0.16420	T	0.52	-15.4352	14.3872	0.66953	0.0:1.0:0.0:0.0	.	438	Q9UDV6	ZN212_HUMAN	Y	438	ENSP00000338572:H438Y	ENSP00000338572:H438Y	H	+	1	0	ZNF212	148582263	0.000000	0.05858	1.000000	0.80357	0.932000	0.56968	0.028000	0.13644	2.536000	0.85505	0.561000	0.74099	CAC		0.587	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1	NM_012256		59	287	0	0	0	1	0	59	287					T	148951330	C	T	148951330	3	4	114	1	0	0	0	0	1	0	0	0	17821	826	29	2	1330	2	ZNF212	7	148951330	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	8473499	148951330	10187333	65	37075											
CDK5	1020	broad.mit.edu	37	chr7	150754217	150754217	+	Frame_Shift_Del	DEL	T	T	-													cgatctcatgagtctcccggTttttggccttgaacacagtt							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:150754217delT	ENST00000485972.1	-	2	749	c.68delA	c.(67-69)aacfs	p.N23fs	SLC4A2_ENST00000413384.2_5'Flank|SLC4A2_ENST00000485713.1_5'Flank|CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|behavioral response to cocaine (GO:0048148)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|central nervous system neuron development (GO:0021954)|cerebellar cortex formation (GO:0021697)|corpus callosum development (GO:0022038)|cortical actin cytoskeleton organization (GO:0030866)|dendrite morphogenesis (GO:0048813)|embryo development (GO:0009790)|hippocampus development (GO:0021766)|intracellular protein transport (GO:0006886)|layer formation in cerebral cortex (GO:0021819)|motor neuron axon guidance (GO:0008045)|negative regulation of axon extension (GO:0030517)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of proteolysis (GO:0045861)|negative regulation of synaptic plasticity (GO:0031914)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|nucleocytoplasmic transport (GO:0006913)|oligodendrocyte differentiation (GO:0048709)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphorylation (GO:0016310)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein targeting to membrane (GO:0090314)|protein autophosphorylation (GO:0046777)|protein localization to synapse (GO:0035418)|receptor catabolic process (GO:0032801)|receptor clustering (GO:0043113)|regulated secretory pathway (GO:0045055)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|rhythmic process (GO:0048511)|Schwann cell development (GO:0014044)|sensory perception of pain (GO:0019233)|serine phosphorylation of STAT3 protein (GO:0033136)|skeletal muscle tissue development (GO:0007519)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)|visual learning (GO:0008542)	axon (GO:0030424)|cell junction (GO:0030054)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activator activity (GO:0030549)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|ErbB-2 class receptor binding (GO:0005176)|ErbB-3 class receptor binding (GO:0043125)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		AGTCTCCCGGTTTTTGGCCTT	0.582																																						ENST00000485972.1																			0				central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9						c.(67-69)acfs		cyclin-dependent kinase 5							240	237	238					7																	150754217		2036	4194	6230	SO:0001589	frameshift_variant	1020				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity	g.chr7:150754217delT	X66364	CCDS47748.1, CCDS55184.1	7q36	2011-11-08			ENSG00000164885	ENSG00000164885		"Cyclin-dependent kinases"	1774	protein-coding gene	gene with protein product		123831				8275715, 1639063	Standard	NM_001164410		Approved	PSSALRE	uc003wir.2	Q00535	OTTHUMG00000158414	ENST00000485972.1:c.68delA	7.37:g.150754217delT	ENSP00000419782:p.Asn23fs					CDK5_ENST00000297518.4_Frame_Shift_Del_p.N23fs	p.N23fs	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)	2	749	-		Breast(660;0.159)|Ovarian(593;0.182)	23			Protein kinase.		A1XKG3	Frame_Shift_Del	DEL	ENST00000485972.1	37	c.68delA	CCDS47748.1																																																																																				0.582	CDK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350965.3			7	1239						7	1239	---	---	---	---	-	150754217	T	-	150754217	7	5	114	1	0	1	0	1	0	0	0	0	3151	1725	60	0	854	0	CDK5	7	150754217	Frame_Shift_Del	DEL	T	TCGA-US-A77E-01A-11D-A32N-08	1802887	150754217	8384446	66	37076											
DPP6	1804	broad.mit.edu	37	chr7	154667694	154667694	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggtgagcagccacggCgcggtggtggtaaagtgtga	19	6	0	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr7:154667694C>T	ENST00000377770.3	+	20	2103	c.1962C>T	c.(1960-1962)ggC>ggT	p.G654G	DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000404039.1_Silent_p.G590G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	654					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)			GCAGCCACGGCGCGGTGGTGG	0.647																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1768-1770)ggC>ggT		dipeptidyl-peptidase 6							29	36	33					7																	154667694		2076	4202	6278	SO:0001819	synonymous_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154667694C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1962C>T	7.37:g.154667694C>T						DPP6_ENST00000377770.3_Silent_p.G654G|DPP6_ENST00000332007.3_Silent_p.G592G|DPP6_ENST00000427557.1_Silent_p.G547G	p.G590G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		20	2357	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	654						Silent	SNP	ENST00000377770.3	37	c.1770C>T																																																																																					0.647	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		10	129	0	0	0	1	0	10	129					T	154667694	C	T	154667694	2	4	114	1	0	0	0	0	0	0	0	1	4746	755	27	1		1	DPP6	7	154667694	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3913477	154667694	4470969	67	37077											
IDO1	3620	broad.mit.edu	37	chr8	39775725	39775725	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatggagatgtccgtaAggtttggagattttctcaga	13	5	2	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:39775725A>T	ENST00000518237.1	+	3	941	c.302A>T	c.(301-303)aAg>aTg	p.K101M	IDO1_ENST00000522495.1_Splice_Site_p.K101M|RP11-44K6.2_ENST00000520185.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	101					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)	GATGTCCGTAAGGTTTGGAGA	0.398																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.e3+1		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						112	105	107					8																	39775725		1913	4134	6047	SO:0001630	splice_region_variant	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39775725A>T	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.303+1A>T	8.37:g.39775725A>T						IDO1_ENST00000522495.1_Splice_Site_p.K101_splice|RP11-44K6.3_ENST00000517623.1_RNA|RP11-44K6.4_ENST00000522970.1_RNA	p.K101_splice	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			3	941	+			101					Q540B4	Splice_Site	SNP	ENST00000518237.1	37	c.303_splice	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	A	16.87	3.243130	0.58995	.	.	ENSG00000131203	ENST00000519154;ENST00000522495;ENST00000518237	T;T;T	0.50277	0.75;0.75;0.75	5.65	5.65	0.86999	.	0.166139	0.38605	N	0.001628	T	0.67767	0.2928	M	0.83953	2.67	0.41481	D	0.98816	D	0.65815	0.995	D	0.64144	0.922	T	0.72384	-0.4310	9	.	.	.	-19.5956	12.2669	0.54683	1.0:0.0:0.0:0.0	.	101	P14902	I23O1_HUMAN	M	101	ENSP00000428716:K101M;ENSP00000430505:K101M;ENSP00000430950:K101M	.	K	+	2	0	IDO1	39894882	0.998000	0.40836	0.974000	0.42286	0.281000	0.26958	4.977000	0.63792	2.154000	0.67381	0.477000	0.44152	AAG		0.398	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	Missense_Mutation	75	269	0	0	0	1	0	75	269					T	39775725	A	T	39775725	5	4	114	1	0	0	0	0	0	0	1	0	7531	86	3	5	312	5	IDO1	8	39775725	Splice_Site	SNP	A	TCGA-US-A77E-01A-11D-A32N-08		39775725	106588297	68	37078											
SOX17	64321	broad.mit.edu	37	chr8	55372148	55372148	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactcggcccagagcccgcgGgtccctcgattccgggcctc	13	18	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:55372148G>T	ENST00000297316.4	+	2	1042	c.838G>T	c.(838-840)Ggt>Tgt	p.G280C		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	280	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)			AGAGCCCGCGGGTCCCTCGAT	0.761																																						ENST00000297316.4																			0				endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18						c.(838-840)Ggt>Tgt		SRY (sex determining region Y)-box 17							2	2	2					8																	55372148		1420	3036	4456	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55372148G>T	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.838G>T	8.37:g.55372148G>T	ENSP00000297316:p.Gly280Cys						p.G280C	NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	1042	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	280			Sox C-terminal.			Missense_Mutation	SNP	ENST00000297316.4	37	c.838G>T	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	G	6.286	0.420879	0.11928	.	.	ENSG00000164736	ENST00000297316	T	0.77620	-1.11	4.44	3.49	0.39957	.	0.789630	0.11802	N	0.527999	T	0.73583	0.3605	M	0.63843	1.955	0.25014	N	0.99138	B	0.33345	0.409	B	0.34489	0.184	T	0.64394	-0.6418	10	0.37606	T	0.19	.	9.5602	0.39364	0.0:0.153:0.6895:0.1574	.	280	Q9H6I2	SOX17_HUMAN	C	280	ENSP00000297316:G280C	ENSP00000297316:G280C	G	+	1	0	SOX17	55534701	0.009000	0.17119	0.185000	0.23176	0.085000	0.17905	1.627000	0.37050	2.006000	0.58801	0.455000	0.32223	GGT		0.761	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			7	11	1	0	3.07112e-06	1	3.18124e-06	7	11					T	55372148	G	T	55372148	3	4	114	1	0	0	0	0	1	0	0	0	14997	1232	43	3	844	3	SOX17	8	55372148	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	15596423	55372148	90991874	69	37079											
RUNX1T1	862	broad.mit.edu	37	chr8	92998419	92998419	+	Frame_Shift_Del	DEL	T	T	-													ctgctgctactgccgccaccTttttttaagtcctcggcgtc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:92998419delT	ENST00000523629.1	-	9	1666	c.1212delA	c.(1210-1212)aaafs	p.K404fs	RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs	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)	404					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)			TGCCGCCACCTTTTTTTAAGT	0.517																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1210-1212)aafs		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							96	103	101					8																	92998419		2203	4300	6503	SO:0001589	frameshift_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998419delT	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.1212delA	8.37:g.92998419delT	ENSP00000428543:p.Lys404fs					RUNX1T1_ENST00000518844.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000422361.2_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000520724.1_Frame_Shift_Del_p.K367fs|RUNX1T1_ENST00000436581.2_Frame_Shift_Del_p.K415fs|RUNX1T1_ENST00000396218.1_Frame_Shift_Del_p.K377fs|RUNX1T1_ENST00000265814.3_Frame_Shift_Del_p.K404fs|RUNX1T1_ENST00000360348.2_Frame_Shift_Del_p.K367fs	p.K404fs	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1666	-			404					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Frame_Shift_Del	DEL	ENST00000523629.1	37	c.1212delA	CCDS6256.1																																																																																				0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		7	666						7	666	---	---	---	---	-	92998419	T	-	92998419	7	5	114	1	0	1	0	1	0	0	0	0	13797	1606	56	0	618	0	RUNX1T1	8	92998419	Frame_Shift_Del	DEL	T	TCGA-US-A77E-01A-11D-A32N-08	37626271	92998419	53365603	70	37080											
DGAT1	8694	broad.mit.edu	37	chr8	145541605	145541605	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggatccgtcgcagcagaaagCgcttccggatgcggggagag	17	10	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr8:145541605C>T	ENST00000332324.4	-	9	1100	c.827G>A	c.(826-828)cGc>cAc	p.R276H	DGAT1_ENST00000531896.1_Silent_p.A306A|GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	276					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAGCAGAAAGCGCTTCCGGAT	0.622																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(826-828)cGc>cAc		diacylglycerol O-acyltransferase 1							28	35	33					8																	145541605		2202	4293	6495	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541605C>T	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"diacylglycerol O-acyltransferase homolog 1 (mouse)"			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.827G>A	8.37:g.145541605C>T	ENSP00000332258:p.Arg276His					DGAT1_ENST00000531896.1_Silent_p.A306A	p.R276H	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		9	1100	-	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)		276					B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.827G>A	CCDS6420.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213109	0.79352	.	.	ENSG00000185000	ENST00000332324	T	0.72942	-0.7	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.66336	0.2779	M	0.66439	2.03	0.80722	D	1	P	0.46457	0.878	B	0.36845	0.234	T	0.71457	-0.4587	10	0.42905	T	0.14	-15.1045	15.3179	0.74095	0.0:1.0:0.0:0.0	.	276	O75907	DGAT1_HUMAN	H	276	ENSP00000332258:R276H	ENSP00000332258:R276H	R	-	2	0	DGAT1	145512413	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.047000	0.76599	2.481000	0.83766	0.555000	0.69702	CGC		0.622	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		8	205	0	0	0	1	0	8	205					T	145541605	C	T	145541605	3	4	114	1	0	0	0	0	1	0	0	0	4473	768	27	1	675	1	DGAT1	8	145541605	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	52543186	145541605	822417	71	37081											
RLN2	6019	broad.mit.edu	37	chr9	5304476	5304476	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgaactaattcgcggccGcataatttaataacttcctc	7	12	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:5304476G>A	ENST00000381627.3	-	1	493	c.105C>T	c.(103-105)tgC>tgT	p.C35C	RLN2_ENST00000308420.3_Silent_p.C35C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	35					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ATTCGCGGCCGCATAATTTAA	0.502																																						ENST00000381627.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11						c.(103-105)tgC>tgT		relaxin 2							66	67	67					9																	5304476		2203	4300	6503	SO:0001819	synonymous_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304476G>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"Endogenous ligands"	10027	protein-coding gene	gene with protein product	"relaxin H2", "prorelaxin H2", "relaxin, ovarian, of pregnancy"	179740	"relaxin 2 (H2)"			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.105C>T	9.37:g.5304476G>A						RLN2_ENST00000308420.3_Silent_p.C35C	p.C35C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	493	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	35					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Silent	SNP	ENST00000381627.3	37	c.105C>T	CCDS6460.1																																																																																				0.502	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		5	431	0	0	0	1	0	5	431					A	5304476	G	A	5304476	2	1	114	1	0	0	0	0	0	0	0	1	13442	1079	38	1		1	RLN2	9	5304476	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		5304476	135908955	72	37082											
ELAVL2	1993	broad.mit.edu	37	chr9	23692693	23692693	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccaaaacctttgcatttAttggtgttaaagtcacggat	7	7	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:23692693A>C	ENST00000397312.2	-	7	1216	c.942T>G	c.(940-942)aaT>aaG	p.N314K	ELAVL2_ENST00000380110.4_Missense_Mutation_p.N344K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N301K|ELAVL2_ENST00000544538.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N314K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	314	RRM 3. {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)		CTTTGCATTTATTGGTGTTAA	0.473																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(940-942)aaT>aaG		ELAV like neuron-specific RNA binding protein 2							136	117	124					9																	23692693		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23692693A>C	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.942T>G	9.37:g.23692693A>C	ENSP00000380479:p.Asn314Lys					ELAVL2_ENST00000544538.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N314K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N301K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N344K	p.N314K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	7	1216	-			314			RRM 3.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.942T>G	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913291	0.33815	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.94	4.81	0.61882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	L	0.28740	0.885	0.80722	D	1	P;D	0.61080	0.776;0.989	B;D	0.66497	0.377;0.944	T	0.05435	-1.0885	10	0.51188	T	0.08	.	8.3434	0.32258	0.7382:0.0:0.2618:0.0	.	314;301	Q12926;Q12926-2	ELAV2_HUMAN;.	K	301;314;314;301;314;342	ENSP00000223951:N301K;ENSP00000380479:N314K;ENSP00000440998:N314K;ENSP00000369460:N314K	ENSP00000223951:N301K	N	-	3	2	ELAVL2	23682693	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.183000	0.58317	1.074000	0.40909	0.528000	0.53228	AAT		0.473	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		20	465	0	0	0	1	0	20	465					C	23692693	A	C	23692693	3	2	114	1	0	0	0	0	1	0	0	0	5068	446	16	4	141	4	ELAVL2	9	23692693	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	18388217	23692693	117520738	73	37083											
TRPM3	80036	broad.mit.edu	37	chr9	73442926	73442926	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggacatggtctggtatggCcggacaacctgcagggtatc	14	9	1	0	rs376572718		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:73442926C>T	ENST00000377111.2	-	6	1053	c.810G>A	c.(808-810)cgG>cgA	p.R270R	TRPM3_ENST00000377101.1_Silent_p.R117R|TRPM3_ENST00000408909.2_Silent_p.R117R|TRPM3_ENST00000357533.2_Silent_p.R272R|TRPM3_ENST00000423814.3_Silent_p.R272R|TRPM3_ENST00000377110.3_Silent_p.R270R|TRPM3_ENST00000396280.5_Silent_p.R117R|TRPM3_ENST00000396285.1_Silent_p.R117R|TRPM3_ENST00000360823.2_Silent_p.R117R|TRPM3_ENST00000396292.4_Silent_p.R117R|TRPM3_ENST00000358082.3_Silent_p.R117R|TRPM3_ENST00000377105.1_Silent_p.R117R|TRPM3_ENST00000361823.5_Silent_p.R117R|TRPM3_ENST00000377106.1_Silent_p.R117R|TRPM3_ENST00000396283.1_Silent_p.R117R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	270					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						TCTGGTATGGCCGGACAACCT	0.458																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(808-810)cgG>cgA		transient receptor potential cation channel, subfamily M, member 3		C	,,,,,,,,	0,4406		0,0,2203	151	143	146		351,810,351,351,351,351,351,351,351	1.7	1	9		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007470.1,NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3,NM_206948.2	,,,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,	117/256,270/1708,117/1555,117/1567,117/1545,117/1557,117/1580,117/1570,117/231	73442926	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73442926C>T	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.810G>A	9.37:g.73442926C>T						TRPM3_ENST00000396283.1_Silent_p.R117R|TRPM3_ENST00000396285.1_Silent_p.R117R|TRPM3_ENST00000360823.2_Silent_p.R117R|TRPM3_ENST00000396292.4_Silent_p.R117R|TRPM3_ENST00000357533.2_Silent_p.R272R|TRPM3_ENST00000358082.3_Silent_p.R117R|TRPM3_ENST00000361823.5_Silent_p.R117R|TRPM3_ENST00000377101.1_Silent_p.R117R|TRPM3_ENST00000377105.1_Silent_p.R117R|TRPM3_ENST00000377106.1_Silent_p.R117R|TRPM3_ENST00000408909.2_Silent_p.R117R|TRPM3_ENST00000396280.5_Silent_p.R117R|TRPM3_ENST00000377111.2_Silent_p.R270R|TRPM3_ENST00000423814.3_Silent_p.R272R	p.R270R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			6	1053	-			270					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.810G>A		.	.	.	.	.	.	.	.	.	.	C	9.804	1.181369	0.21787	0.0	1.16E-4	ENSG00000083067	ENST00000396280	.	.	.	5.83	1.69	0.24217	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-20.7328	4.1127	0.10067	0.2451:0.4474:0.0:0.3075	.	.	.	.	T	117	.	.	A	-	1	0	TRPM3	72632746	0.626000	0.27120	0.998000	0.56505	0.980000	0.70556	-0.166000	0.09954	0.371000	0.24564	0.650000	0.86243	GCC		0.458	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		5	523	0	0	0	1	0	5	523					T	73442926	C	T	73442926	2	4	114	1	0	0	0	0	0	0	0	1	16640	726	26	2		2	TRPM3	9	73442926	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	49750233	73442926	67770505	74	37084											
KIF27	55582	broad.mit.edu	37	chr9	86504131	86504131	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcgaaatccagcaaatAttcgatccagagagtacata	8	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:86504131A>C	ENST00000297814.2	-	7	1990	c.1847T>G	c.(1846-1848)aTa>aGa	p.I616R	KIF27_ENST00000334204.2_Missense_Mutation_p.I616R|KIF27_ENST00000376347.1_Missense_Mutation_p.I7R|KIF27_ENST00000413982.1_Missense_Mutation_p.I616R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	616					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						TCCAGCAAATATTCGATCCAG	0.403																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1846-1848)aTa>aGa		kinesin family member 27							144	144	144					9																	86504131		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86504131A>C	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.1847T>G	9.37:g.86504131A>C	ENSP00000297814:p.Ile616Arg					KIF27_ENST00000376347.1_Missense_Mutation_p.I7R|KIF27_ENST00000413982.1_Missense_Mutation_p.I616R|KIF27_ENST00000334204.2_Missense_Mutation_p.I616R	p.I616R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			7	1990	-			616					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1847T>G	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	A	17.75	3.465512	0.63513	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	4.85	3.62	0.41486	.	0.461427	0.16718	U	0.202373	T	0.30448	0.0765	N	0.08118	0	0.38420	D	0.946164	P;P;B	0.42993	0.467;0.797;0.337	B;P;B	0.44359	0.133;0.447;0.054	T	0.11446	-1.0587	10	0.29301	T	0.29	.	10.6689	0.45747	0.8568:0.0:0.0:0.1432	.	616;616;616	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	R	616;616;616;7	ENSP00000297814:I616R;ENSP00000401688:I616R;ENSP00000333928:I616R;ENSP00000365525:I7R	ENSP00000297814:I616R	I	-	2	0	KIF27	85693951	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	5.222000	0.65277	1.949000	0.56562	0.455000	0.32223	ATA		0.403	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		32	713	0	0	0	1	0	32	713					C	86504131	A	C	86504131	3	2	114	1	0	0	0	0	1	0	0	0	8326	449	16	4	2406	4	KIF27	9	86504131	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	13061205	86504131	54709300	75	37085											
KLF4	9314	broad.mit.edu	37	chr9	110249341	110249341	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcaggtgtgccttgagatggGaactctttgtgtaggttttg	15	5	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:110249341G>T	ENST00000374672.4	-	4	1705	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	445	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CTTGAGATGGGAACTCTTTGT	0.592																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1231-1233)tCc>tAc		Kruppel-like factor 4 (gut)							301	267	279					9																	110249341		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110249341G>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1232C>A	9.37:g.110249341G>T	ENSP00000363804:p.Ser411Tyr						p.S411Y	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			4	1705	-			445			Pro-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1232C>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579183	0.86645	.	.	ENSG00000136826	ENST00000374672	T	0.35605	1.3	5.57	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.347798	0.21123	N	0.079795	T	0.66208	0.2766	M	0.89601	3.045	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.72625	0.641;0.978	T	0.74041	-0.3792	10	0.87932	D	0	.	14.0741	0.64880	0.0732:0.0:0.9268:0.0	.	445;411	O43474;O43474-1	KLF4_HUMAN;.	Y	411	ENSP00000363804:S411Y	ENSP00000363804:S411Y	S	-	2	0	KLF4	109289162	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.824000	0.99380	1.358000	0.45922	-0.136000	0.14681	TCC		0.592	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		125	651	1	0	6.70566e-67	1	7.20442e-67	125	651					T	110249341	G	T	110249341	3	4	114	1	0	0	0	0	1	0	0	0	8378	1174	41	3	215	3	KLF4	9	110249341	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	23745210	110249341	30964090	76	37086											
FAM102A	399665	broad.mit.edu	37	chr9	130712784	130712784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggagcccgagcccGcaaactcggccaggttcaag	13	15	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:130712784G>A	ENST00000373095.1	-	4	707	c.332C>T	c.(331-333)gCg>gTg	p.A111V	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	111										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGAGCCCGCAAACTCGGC	0.632																																						ENST00000373095.1																			0				breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						c.(331-333)gCg>gTg		family with sequence similarity 102, member A							103	90	94					9																	130712784		2203	4300	6503	SO:0001583	missense	399665							g.chr9:130712784G>A		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.332C>T	9.37:g.130712784G>A	ENSP00000362187:p.Ala111Val					FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	p.A111V	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN			4	707	-			111					A2A329|Q8TEL4	Missense_Mutation	SNP	ENST00000373095.1	37	c.332C>T	CCDS35150.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943040	0.73672	.	.	ENSG00000167106	ENST00000373095	T	0.44881	0.91	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71974	-0.4430	10	0.19147	T	0.46	-8.445	17.1174	0.86692	0.0:0.0:1.0:0.0	.	111	Q5T9C2	F102A_HUMAN	V	111	ENSP00000362187:A111V	ENSP00000362187:A111V	A	-	2	0	FAM102A	129752605	1.000000	0.71417	0.187000	0.23214	0.100000	0.18952	9.758000	0.98927	2.362000	0.80069	0.462000	0.41574	GCG		0.632	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			7	479	0	0	0	1	0	7	479					A	130712784	G	A	130712784	3	1	114	1	0	0	0	0	1	0	0	0	5403	1087	38	1	854	1	FAM102A	9	130712784	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	20463443	130712784	10500647	77	37087											
TOR1A	1861	broad.mit.edu	37	chr9	132584984	132584984	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgctgacgaaatttttgCcggtgcctgtccacccgtgc	10	13	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr9:132584984C>T	ENST00000351698.4	-	2	368	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	107	Interaction with SNAPIN.				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)	p.G107D(4)		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)				GAAATTTTTGCCGGTGCCTGT	0.468																																						ENST00000351698.4																			4	Substitution - Missense(4)	p.G107D(4)	kidney(3)|lung(1)	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						c.(319-321)gGc>gAc		torsin family 1, member A (torsin A)							226	200	209					9																	132584984		2203	4300	6503	SO:0001583	missense	1861				chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	g.chr9:132584984C>T	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.320G>A	9.37:g.132584984C>T	ENSP00000345719:p.Gly107Asp					TOR1A_ENST00000473084.1_5'UTR	p.G107D	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN			2	368	-		Ovarian(14;0.00556)	107					B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	ENST00000351698.4	37	c.320G>A	CCDS6930.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838232	0.71373	.	.	ENSG00000136827	ENST00000351698	D	0.92099	-2.97	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.97281	0.9111	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98397	1.0566	10	0.87932	D	0	-8.4354	17.7332	0.88384	0.0:1.0:0.0:0.0	.	107;107	O14656-2;O14656	.;TOR1A_HUMAN	D	107	ENSP00000345719:G107D	ENSP00000345719:G107D	G	-	2	0	TOR1A	131624805	1.000000	0.71417	0.995000	0.50966	0.072000	0.16883	7.484000	0.81180	2.439000	0.82584	0.561000	0.74099	GGC		0.468	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054611.1	NM_000113		6	718	0	0	0	1	0	6	718					T	132584984	C	T	132584984	3	4	114	1	0	0	0	0	1	0	0	0	16424	739	26	2	694	2	TOR1A	9	132584984	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1872200	132584984	8628447	78	37088											
FAM107B	83641	broad.mit.edu	37	chr10	14816370	14816370	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctccgcgggctgggccGcagtgcggtgacttgaattc	16	12	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:14816370G>A	ENST00000181796.2	-	1	526	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGGCTGGGCCGCAGTGCGGTG	0.587																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(292-294)gCg>gTg		family with sequence similarity 107, member B							142	140	141					10																	14816370		2203	4300	6503	SO:0001583	missense	83641							g.chr10:14816370G>A	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.293C>T	10.37:g.14816370G>A	ENSP00000181796:p.Ala98Val						p.A98V	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			1	526	-			0					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	ENST00000181796.2	37	c.293C>T	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081890	0.20309	.	.	ENSG00000065809	ENST00000181796	T	0.36520	1.25	5.23	2.12	0.27331	.	0.762633	0.11158	N	0.593347	T	0.18299	0.0439	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.28902	-1.0029	10	0.13108	T	0.6	-1.9623	6.671	0.23068	0.1726:0.0:0.6788:0.1486	.	98	Q9H098-2	.	V	98	ENSP00000181796:A98V	ENSP00000181796:A98V	A	-	2	0	FAM107B	14856376	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.080000	0.30779	0.757000	0.33036	0.655000	0.94253	GCG		0.587	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		6	837	0	0	0	1	0	6	837					A	14816370	G	A	14816370	3	1	114	1	0	0	0	0	1	0	0	0	5411	1087	38	1	647	1	FAM107B	10	14816370	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		14816370	120718377	79	37089											
NEBL	10529	broad.mit.edu	37	chr10	21074742	21074742	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgttctctgcactgtgccGtacatccagccatcgtcaat	7	15	2	0	rs139156783		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:21074742G>A	ENST00000377122.4	-	28	3375	c.2979C>T	c.(2977-2979)taC>taT	p.Y993Y	NEBL_ENST00000377159.4_Silent_p.Y215Y|NEBL_ENST00000417816.2_Silent_p.Y249Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	993	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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						GCACTGTGCCGTACATCCAGC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19355	0.0		0.0	False		,,,				2504	0.0					ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(2977-2979)taC>taT		nebulette							120	99	106					10																	21074742		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21074742G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2979C>T	10.37:g.21074742G>A						NEBL_ENST00000377159.4_Silent_p.Y215Y|NEBL_ENST00000417816.2_Silent_p.Y249Y	p.Y993Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			28	3375	-			993			SH3.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.2979C>T	CCDS7134.1																																																																																				0.468	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		4	247	0	0	0	1	0	4	247					A	21074742	G	A	21074742	2	1	114	1	0	0	0	0	0	0	0	1	10345	1140	40	1		1	NEBL	10	21074742	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	6258372	21074742	114460005	80	37090											
MYO3A	53904	broad.mit.edu	37	chr10	26457784	26457784	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggagaaaaggaaagaaagCgctataataatacagtcagg	11	5	1	2	rs35541310		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:26457784C>T	ENST00000265944.5	+	28	3421	c.3255C>T	c.(3253-3255)agC>agT	p.S1085S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1085	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGAAAGAAAGCGCTATAATAA	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17750	0.0		0.0	False		,,,				2504	0.0					ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3253-3255)agC>agT		myosin IIIA		C		6,4400	11.4+/-27.6	0,6,2197	119	123	122		3255	-4.8	0.5	10	dbSNP_126	122	0,8600		0,0,4300	no	coding-synonymous	MYO3A	NM_017433.4		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		1085/1617	26457784	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26457784C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3255C>T	10.37:g.26457784C>T						MYO3A_ENST00000543632.1_Intron	p.S1085S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			28	3421	+			1085			IQ 2.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3255C>T	CCDS7148.1																																																																																				0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		36	195	0	0	0	1	0	36	195					T	26457784	C	T	26457784	2	4	114	1	0	0	0	0	0	0	0	1	10117	767	27	1		1	MYO3A	10	26457784	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5383042	26457784	109076963	81	37091											
RPP30	10556	broad.mit.edu	37	chr10	92631801	92631801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacctgaaggctctgcgcGgacttgtggagacagccgct	14	12	1	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:92631801G>A	ENST00000371703.3	+	1	329	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_ENST00000413330.1_Missense_Mutation_p.G20R	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	20					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.G20R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637																																						ENST00000413330.1																			1	Substitution - Missense(1)	p.G20R(1)	skin(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(58-60)Gga>Aga		ribonuclease P/MRP 30kDa subunit							100	104	103					10																	92631801		2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92631801G>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.58G>A	10.37:g.92631801G>A	ENSP00000360768:p.Gly20Arg					RPP30_ENST00000371703.3_Missense_Mutation_p.G20R	p.G20R	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			1	93	+			20					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.58G>A	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	8.357	0.832131	0.16820	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882	T;T;T	0.52057	1.03;1.02;0.68	5.32	3.43	0.39272	Polymerase/histidinol phosphatase-like (1);	0.488240	0.23157	N	0.051300	T	0.27063	0.0663	L	0.29908	0.895	0.09310	N	1	P;P;P	0.50710	0.938;0.84;0.87	B;B;B	0.34931	0.192;0.12;0.192	T	0.24764	-1.0151	10	0.62326	D	0.03	.	5.2317	0.15426	0.1767:0.1708:0.6525:0.0	.	20;20;20	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	R	20	ENSP00000360768:G20R;ENSP00000389182:G20R;ENSP00000277882:G20R	ENSP00000277882:G20R	G	+	1	0	RPP30	92621781	0.037000	0.19845	0.067000	0.19924	0.066000	0.16364	0.996000	0.29719	0.779000	0.33543	0.591000	0.81541	GGA		0.637	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		6	752	0	0	0	1	0	6	752					A	92631801	G	A	92631801	3	1	114	1	0	0	0	0	1	0	0	0	13662	1117	39	1	60	1	RPP30	10	92631801	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	66174017	92631801	42902946	82	37092											
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	11	16	2	0	rs185815738	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000309035.6_Silent_p.G813G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						ENST00000309035.6																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(2437-2439)ggC>ggT		C-terminal binding protein 2							82	86	85					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G	p.G813G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	6	2569	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.2439C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		6	694	0	0	0	1	0	6	694					A	126682516	G	A	126682516	2	1	114	1	0	0	0	0	0	0	0	1	4009	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	34050715	126682516	8852231	83	37093											
LRDD	55367	broad.mit.edu	37	chr11	803531	803531	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccactcagaccagcggGcaggttggtcagggcacccc	14	15	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:803531G>A	ENST00000347755.5	-	3	493	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S	PIDD_ENST00000411829.2_Missense_Mutation_p.P118S|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					AGACCAGCGGGCAGGTTGGTC	0.687																																						ENST00000347755.5																			0											c.(352-354)Ccc>Tcc		p53-induced death domain protein							39	44	42					11																	803531		2203	4298	6501	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803531G>A																												ENST00000347755.5:c.352C>T	11.37:g.803531G>A	ENSP00000337797:p.Pro118Ser					PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.P118S	p.P118S	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			3	493	-			118						Missense_Mutation	SNP	ENST00000347755.5	37	c.352C>T	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695225	0.68386	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.59364	0.4;0.27	4.34	4.34	0.51931	.	0.150329	0.45361	D	0.000373	T	0.76681	0.4021	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	0.81132	-0.1072	10	0.87932	D	0	.	17.0183	0.86425	0.0:0.0:1.0:0.0	.	118;118	Q9HB75;Q9HB75-2	PIDD_HUMAN;.	S	118	ENSP00000416801:P118S;ENSP00000337797:P118S	ENSP00000337797:P118S	P	-	1	0	PIDD	793531	1.000000	0.71417	0.856000	0.33681	0.123000	0.20343	5.430000	0.66501	2.236000	0.73375	0.462000	0.41574	CCC		0.687	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			5	160	0	0	0	1	0	5	160					A	803531	G	A	803531	3	1	114	1	0	0	0	0	1	0	0	0	8974	1203	42	2	2436	2	LRDD	11	803531	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		803531	134202985	84	37094											
ZNF195	7748	broad.mit.edu	37	chr11	3380678	3380678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcgtcacatttgtagggCttctctccagtatgggtttt	9	9	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000354599.6_Silent_p.K448K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					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)		ATTTGTAGGGCTTCTCTCCAG	0.403																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1342-1344)aaG>aaA		zinc finger protein 195							168	171	170					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380678C>T		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.1560G>A	11.37:g.3380678C>T						ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000526601.1_Silent_p.K501K	p.K448K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1448	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	520					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1344G>A	CCDS44522.1																																																																																				0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	659	0	0	0	1	0	6	659					T	3380678	C	T	3380678	2	4	114	1	0	0	0	0	0	0	0	1	17811	796	28	2		2	ZNF195	11	3380678	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	2577147	3380678	131625838	85	37095											
FIBIN	387758	broad.mit.edu	37	chr11	27016362	27016362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtggaggatgctgggcgcGtgctggagggcatcagcaaa	19	7	1	0	rs188656817		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:27016362G>A	ENST00000318627.2	+	1	735	c.289G>A	c.(289-291)Gtg>Atg	p.V97M		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	97						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGCTGGGCGCGTGCTGGAGGG	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17641	0.0		0.0	False		,,,				2504	0.0					ENST00000318627.2																			0				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						c.(289-291)Gtg>Atg		fin bud initiation factor homolog (zebrafish)							46	37	40					11																	27016362		2203	4299	6502	SO:0001583	missense	387758					extracellular region|Golgi apparatus		g.chr11:27016362G>A	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.289G>A	11.37:g.27016362G>A	ENSP00000321962:p.Val97Met						p.V97M	NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN			1	735	+			97						Missense_Mutation	SNP	ENST00000318627.2	37	c.289G>A	CCDS7861.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.4	4.826858	0.90955	.	.	ENSG00000176971	ENST00000318627	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70605	-0.4826	9	0.72032	D	0.01	-14.2051	18.3976	0.90504	0.0:0.0:1.0:0.0	.	97	Q8TAL6	FIBIN_HUMAN	M	97	.	ENSP00000321962:V97M	V	+	1	0	FIBIN	26972938	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	9.245000	0.95431	2.706000	0.92434	0.557000	0.71058	GTG		0.657	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		32	141	0	0	0	1	0	32	141					A	27016362	G	A	27016362	3	1	114	1	0	0	0	0	1	0	0	0	5910	1145	40	1	291	1	FIBIN	11	27016362	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	23635684	27016362	107990154	86	37096											
EXT2	2132	broad.mit.edu	37	chr11	44129401	44129401	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggcatgtttcagttttggCcccattctatcgagtcctca	8	12	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:44129401C>T	ENST00000343631.3	+	2	268	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	EXT2_ENST00000533608.1_Missense_Mutation_p.P47S|EXT2_ENST00000395673.3_Missense_Mutation_p.P80S|EXT2_ENST00000358681.4_Missense_Mutation_p.P47S			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	47					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGTTTTGGCCCCATTCTAT	0.527			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"Mis, N, F, S"	multiple exostoses type 2 gene			M		"exostoses, osteosarcoma"			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						c.(238-240)Ccc>Tcc		exostosin glycosyltransferase 2							154	159	157					11																	44129401		2203	4300	6503	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129401C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.139C>T	11.37:g.44129401C>T	ENSP00000342656:p.Pro47Ser					EXT2_ENST00000358681.4_Missense_Mutation_p.P47S|EXT2_ENST00000533608.1_Missense_Mutation_p.P47S|EXT2_ENST00000343631.3_Missense_Mutation_p.P47S	p.P80S	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			2	294	+			47					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.238C>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360982	0.41801	.	.	ENSG00000151348	ENST00000533608;ENST00000532479;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.45	4.52	0.55395	.	0.050514	0.85682	D	0.000000	T	0.56863	0.2014	L	0.29908	0.895	0.80722	D	1	D;D;D;P;B	0.89917	1.0;0.984;0.979;0.956;0.296	D;P;P;P;B	0.83275	0.996;0.786;0.798;0.63;0.027	T	0.57636	-0.7777	10	0.44086	T	0.13	1.5466	15.282	0.73794	0.1413:0.8587:0.0:0.0	.	47;47;47;47;60	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	S	47;47;47;47;80;47	ENSP00000431173:P47S;ENSP00000433827:P47S;ENSP00000434716:P47S;ENSP00000351509:P47S;ENSP00000379032:P80S;ENSP00000342656:P47S	ENSP00000342656:P47S	P	+	1	0	EXT2	44085977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	1.253000	0.44018	0.650000	0.86243	CCC		0.527	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		5	419	0	0	0	1	0	5	419					T	44129401	C	T	44129401	3	4	114	1	0	0	0	0	1	0	0	0	5342	739	26	2	244	2	EXT2	11	44129401	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	17113039	44129401	90877115	87	37097											
CKAP5	9793	broad.mit.edu	37	chr11	46780946	46780946	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atccagctggaattctcggcGgaccatctgggctgcctcag	12	13	3	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:46780946G>A	ENST00000529230.1	-	34	4487	c.4441C>T	c.(4441-4443)Cgc>Tgc	p.R1481C	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1481C|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1481C|SNORD67_ENST00000516618.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1481C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1481					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						AATTCTCGGCGGACCATCTGG	0.483																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				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						c.(4441-4443)Cgc>Tgc		cytoskeleton associated protein 5							107	101	103					11																	46780946		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46780946G>A		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.4441C>T	11.37:g.46780946G>A	ENSP00000432768:p.Arg1481Cys					CKAP5_ENST00000415402.1_Missense_Mutation_p.R1481C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1481C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1481C	p.R1481C			Q14008	CKAP5_HUMAN			34	4487	-			1481					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4441C>T	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.896803|3.896803	0.72639|0.72639	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000527333|ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	.|T;T;T;T	.|0.48201	.|0.84;0.85;0.82;0.82	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.094061	.|0.85682	.|D	.|0.000000	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.14661|0.14661	0.345|0.345	0.51767|0.51767	D|D	0.999933|0.999933	.|P;P;P	.|0.49447	.|0.924;0.894;0.83	.|B;B;B	.|0.39840	.|0.235;0.311;0.165	T|T	0.23084|0.23084	-1.0198|-1.0198	5|10	.|0.44086	.|T	.|0.13	-9.5534|-9.5534	19.8389|19.8389	0.96675|0.96675	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1481;1481;1481	.|Q14008-3;Q14008-2;Q14008	.|.;.;CKAP5_HUMAN	L|C	37|1481;1481;1481;1481;212	.|ENSP00000432768:R1481C;ENSP00000395302:R1481C;ENSP00000310227:R1481C;ENSP00000346566:R1481C	.|ENSP00000310227:R1481C	P|R	-|-	2|1	0|0	CKAP5|CKAP5	46737522|46737522	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.753000|7.753000	0.85153|0.85153	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.483	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		5	353	0	0	0	1	0	5	353					A	46780946	G	A	46780946	3	1	114	1	0	0	0	0	1	0	0	0	3454	1116	39	1	1701	1	CKAP5	11	46780946	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2651545	46780946	88225570	88	37098											
OR4A47	403253	broad.mit.edu	37	chr11	48510885	48510885	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attttttctgtgacatgtatCccttattgaaactggtctgc	7	8	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:48510885C>A	ENST00000446524.1	+	1	617	c.541C>A	c.(541-543)Ccc>Acc	p.P181T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181A(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGACATGTATCCCTTATTGAA	0.443																																						ENST00000446524.1																			1	Substitution - Missense(1)	p.P181A(1)	urinary_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(541-543)Ccc>Acc		olfactory receptor, family 4, subfamily A, member 47							167	159	162					11																	48510885		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510885C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.541C>A	11.37:g.48510885C>A	ENSP00000412752:p.Pro181Thr						p.P181T	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	617	+			181						Missense_Mutation	SNP	ENST00000446524.1	37	c.541C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	7.778	0.708860	0.15239	.	.	ENSG00000237388	ENST00000446524	T	0.00216	8.53	4.84	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.117629	0.38778	N	0.001571	T	0.00666	0.0022	H	0.94658	3.565	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.38045	-0.9679	10	0.72032	D	0.01	.	6.6304	0.22853	0.0:0.6819:0.147:0.171	.	181	Q6IF82	O4A47_HUMAN	T	181	ENSP00000412752:P181T	ENSP00000412752:P181T	P	+	1	0	OR4A47	48467461	0.000000	0.05858	0.219000	0.23793	0.012000	0.07955	0.174000	0.16743	0.105000	0.17753	-0.409000	0.06214	CCC		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		25	619	1	0	3.28513e-13	1	3.47209e-13	25	619					A	48510885	C	A	48510885	3	1	114	1	0	0	0	0	1	0	0	0	11084	855	30	3	543	3	OR4A47	11	48510885	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	1729939	48510885	86495631	89	37099											
OR4S2	219431	broad.mit.edu	37	chr11	55418776	55418776	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aacccctacattatatgaccAtcatgaaccgggagacatgc	7	12	1	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:55418776A>C	ENST00000312422.2	+	1	397	c.397A>C	c.(397-399)Atc>Ctc	p.I133L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)				TTATATGACCATCATGAACCG	0.428																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(397-399)Atc>Ctc		olfactory receptor, family 4, subfamily S, member 2							198	167	178					11																	55418776		2182	4042	6224	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418776A>C	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.397A>C	11.37:g.55418776A>C	ENSP00000310337:p.Ile133Leu						p.I133L	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	397	+		all_epithelial(135;0.0748)	133					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.397A>C	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.386439	0.25031	.	.	ENSG00000174982	ENST00000312422	T	0.00940	5.52	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.243922	0.28453	N	0.015284	T	0.01387	0.0045	L	0.45698	1.435	0.26071	N	0.981224	B	0.14438	0.01	B	0.10450	0.005	T	0.38564	-0.9655	10	0.72032	D	0.01	.	10.9264	0.47193	0.8431:0.1569:0.0:0.0	.	133	Q8NH73	OR4S2_HUMAN	L	133	ENSP00000310337:I133L	ENSP00000310337:I133L	I	+	1	0	OR4S2	55175352	0.008000	0.16893	0.997000	0.53966	0.193000	0.23685	0.647000	0.24812	2.028000	0.59812	0.443000	0.29094	ATC		0.428	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		41	837	0	0	0	1	0	41	837					C	55418776	A	C	55418776	3	2	114	1	0	0	0	0	1	0	0	0	11125	217	8	4	399	4	OR4S2	11	55418776	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	6907891	55418776	79587740	90	37100											
RAB3IL1	5866	broad.mit.edu	37	chr11	61665800	61665800	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtgacatctccttccGcaacctcatgatctcccaga	7	16	3	3	rs139969835		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:61665800G>A	ENST00000394836.2	-	10	1256	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.R341W	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	367					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						ATCTCCTTCCGCAACCTCATG	0.632											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394836.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						c.(1099-1101)Cgg>Tgg		RAB3A interacting protein (rabin3)-like 1		G	TRP/ARG	0,4404		0,0,2202	151	152	152		1099	2.7	1	11	dbSNP_134	152	1,8597	1.2+/-3.3	0,1,4298	no	missense	RAB3IL1	NM_013401.2	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	367/383	61665800	1,13001	2202	4299	6501	SO:0001583	missense	5866						protein binding	g.chr11:61665800G>A	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.1099C>T	11.37:g.61665800G>A	ENSP00000378313:p.Arg367Trp		OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1055	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.R341W	p.R367W	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN			10	1256	-			367					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.1099C>T	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846352	0.51164	0.0	1.16E-4	ENSG00000167994	ENST00000394836;ENST00000301773;ENST00000526200	T;T	0.59906	0.23;0.45	4.71	2.72	0.32119	.	0.000000	0.64402	D	0.000001	T	0.77877	0.4196	M	0.89414	3.03	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.80374	-0.1409	10	0.87932	D	0	-12.9046	12.5917	0.56447	0.0:0.0:0.5926:0.4074	.	341;367	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	W	367;341;50	ENSP00000378313:R367W;ENSP00000301773:R341W	ENSP00000301773:R341W	R	-	1	2	RAB3IL1	61422376	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.023000	0.41040	0.356000	0.24157	0.462000	0.41574	CGG		0.632	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		7	1036	0	0	0	1	0	7	1036					A	61665800	G	A	61665800	3	1	114	1	0	0	0	0	1	0	0	0	12987	1086	38	1	53	1	RAB3IL1	11	61665800	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	6247024	61665800	73340716	91	37101											
CHRM1	1128	broad.mit.edu	37	chr11	62677297	62677297	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgaaaggtgtcccGgaaggctttgttgcagagtg	16	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:62677297G>A	ENST00000306960.3	-	2	1817	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	426					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)	AAGGTGTCCCGGAAGGCTTTG	0.632																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(1276-1278)Cgg>Tgg		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						164	158	160					11																	62677297		2201	4298	6499	SO:0001583	missense	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677297G>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1276C>T	11.37:g.62677297G>A	ENSP00000306490:p.Arg426Trp					AP000438.2_ENST00000543624.1_RNA	p.R426W	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	1817	-			426					Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	37	c.1276C>T	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966720	0.53507	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.58358	0.34;0.34	3.98	1.97	0.26223	.	0.792889	0.10240	N	0.698549	T	0.64972	0.2647	L	0.57536	1.79	0.39146	D	0.962134	D	0.89917	1.0	D	0.64321	0.924	T	0.62148	-0.6915	10	0.87932	D	0	-13.9234	9.6941	0.40147	0.0:0.0:0.4009:0.5991	.	426	P11229	ACM1_HUMAN	W	426	ENSP00000306490:R426W;ENSP00000441188:R426W	ENSP00000306490:R426W	R	-	1	2	CHRM1	62433873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.136000	0.64783	0.263000	0.21812	0.561000	0.74099	CGG		0.632	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		6	816	0	0	0	1	0	6	816					A	62677297	G	A	62677297	3	1	114	1	0	0	0	0	1	0	0	0	3385	1115	39	1	110	1	CHRM1	11	62677297	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1011497	62677297	72329219	92	37102											
RCOR2	283248	broad.mit.edu	37	chr11	63680166	63680166	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttgaacagccaaaagctGctcatctgtggtccagcggg	11	12	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:63680166G>A	ENST00000301459.4	-	10	1396	c.1009C>T	c.(1009-1011)Cag>Tag	p.Q337*	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	337	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						GCCAAAAGCTGCTCATCTGTG	0.532																																						ENST00000301459.4																			0				kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1009-1011)Cag>Tag		REST corepressor 2							141	140	140					11																	63680166		2201	4297	6498	SO:0001587	stop_gained	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63680166G>A	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1009C>T	11.37:g.63680166G>A	ENSP00000301459:p.Gln337*						p.Q337*	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN			10	1396	-			337			SANT 2.		Q96FP3	Nonsense_Mutation	SNP	ENST00000301459.4	37	c.1009C>T	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	G	41	8.641449	0.98897	.	.	ENSG00000167771	ENST00000301459	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.4081	0.83697	0.0:0.0:1.0:0.0	.	.	.	.	X	337	.	ENSP00000301459:Q337X	Q	-	1	0	RCOR2	63436742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.524000	0.98036	2.479000	0.83701	0.561000	0.74099	CAG		0.532	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		229	656	0	0	0	1	0	229	656					A	63680166	G	A	63680166	4	1	114	1	0	0	0	0	0	1	0	0	13233	1328	46	2	574	2	RCOR2	11	63680166	Nonsense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1002869	63680166	71326350	93	37103											
ESRRA	2101	broad.mit.edu	37	chr11	64082689	64082689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggctgcaggccctgcGgctggagcgagaggagtatg	20	10	0	1	rs374006359		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:64082689G>A	ENST00000405666.1	+	6	1193	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	PRDX5_ENST00000265462.4_5'Flank|ESRRA_ENST00000406310.1_Missense_Mutation_p.R319Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R320Q|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	320	Ligand binding domain.				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						CAGGCCCTGCGGCTGGAGCGA	0.627																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(958-960)cGg>cAg		estrogen-related receptor alpha		G	GLN/ARG	0,3998		0,0,1999	22	26	25		959	4.1	0.9	11		25	1,8313		0,1,4156	no	missense	ESRRA	NM_004451.3	43	0,1,6155	AA,AG,GG		0.012,0.0,0.0081	benign	320/424	64082689	1,12311	1999	4157	6156	SO:0001583	missense	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082689G>A	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.959G>A	11.37:g.64082689G>A	ENSP00000384851:p.Arg320Gln					ESRRA_ENST00000406310.1_Missense_Mutation_p.R319Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R320Q	p.R320Q			P11474	ERR1_HUMAN			6	1193	+			320			Ligand binding domain.		Q14514	Missense_Mutation	SNP	ENST00000405666.1	37	c.959G>A	CCDS41667.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.914|9.914	1.210433|1.210433	0.22289|0.22289	0.0|0.0	1.2E-4|1.2E-4	ENSG00000173153|ENSG00000173153	ENST00000545035|ENST00000406310;ENST00000000442;ENST00000405666	.|D;D;D	.|0.96334	.|-3.98;-3.98;-3.98	4.14|4.14	4.14|4.14	0.48551|0.48551	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.192229	.|0.44483	.|D	.|0.000441	D|D	0.89269|0.89269	0.6667|0.6667	N|N	0.16903|0.16903	0.455|0.455	0.44073|0.44073	D|D	0.996821|0.996821	.|B;P	.|0.51449	.|0.033;0.945	.|B;B	.|0.31547	.|0.0;0.132	D|D	0.90139|0.90139	0.4212|0.4212	5|10	.|0.39692	.|T	.|0.17	.|.	14.3272|14.3272	0.66528|0.66528	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|319;320	.|P11474-2;P11474	.|.;ERR1_HUMAN	S|Q	101|319;320;320	.|ENSP00000385971:R319Q;ENSP00000000442:R320Q;ENSP00000384851:R320Q	.|ENSP00000000442:R320Q	G|R	+|+	1|2	0|0	ESRRA|ESRRA	63839265|63839265	0.082000|0.082000	0.21442|0.21442	0.944000|0.944000	0.38274|0.38274	0.203000|0.203000	0.24098|0.24098	2.216000|2.216000	0.42871|0.42871	2.309000|2.309000	0.77851|0.77851	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.627	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		51	172	0	0	0	1	0	51	172					A	64082689	G	A	64082689	3	1	114	1	0	0	0	0	1	0	0	0	5278	1116	39	1	977	1	ESRRA	11	64082689	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	402523	64082689	70923827	94	37104											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201678	67201678	+	Frame_Shift_Del	DEL	T	T	-													tctacctacagagacatcccTttttccggcacatgaattgg							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:67201678delT	ENST00000312629.5	+	12	1024	c.979delT	c.(979-981)tttfs	p.F328fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGACATCCCTTTTTCCGGCA	0.632																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(979-981)ttfs		ribosomal protein S6 kinase, 70kDa, polypeptide 2							260	290	280					11																	67201678		2075	4199	6274	SO:0001589	frameshift_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201678delT	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.979delT	11.37:g.67201678delT	ENSP00000308413:p.Phe328fs					AP003419.16_ENST00000535922.1_RNA	p.F328fs	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		12	1024	+			328			Protein kinase.		B2RMZ9|B4DML8|O94809|Q9UEC1	Frame_Shift_Del	DEL	ENST00000312629.5	37	c.979delT	CCDS41677.1																																																																																				0.632	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		8	2106						8	2106	---	---	---	---	-	67201678	T	-	67201678	7	5	114	1	0	1	0	1	0	0	0	0	13707	1609	56	0	1025	0	RPS6KB2	11	67201678	Frame_Shift_Del	DEL	T	TCGA-US-A77E-01A-11D-A32N-08	3118989	67201678	67804838	95	37105											
APOA4	337	broad.mit.edu	37	chr11	116691783	116691783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttccacgtcccccgcatgggGgcccagtttctgcctgagct	11	16	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:116691783G>A	ENST00000357780.3	-	3	1105	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	331					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCCGCATGGGGGCCCAGTTTC	0.592																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(991-993)Ccc>Tcc		apolipoprotein A-IV							68	66	67					11																	116691783		2201	4292	6493	SO:0001583	missense	337							g.chr11:116691783G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.991C>T	11.37:g.116691783G>A	ENSP00000350425:p.Pro331Ser						p.P331S	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	1105	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.991C>T	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340577	0.41498	.	.	ENSG00000110244	ENST00000357780	T	0.76316	-1.01	5.39	4.46	0.54185	Apolipoprotein/apolipophorin (1);	0.377447	0.26019	N	0.026825	T	0.73016	0.3533	M	0.64676	1.99	0.29390	N	0.862669	P	0.50272	0.933	P	0.45167	0.472	T	0.69394	-0.5157	10	0.29301	T	0.29	-39.6749	7.0255	0.24938	0.142:0.0:0.7148:0.1432	.	331	P06727	APOA4_HUMAN	S	331	ENSP00000350425:P331S	ENSP00000350425:P331S	P	-	1	0	APOA4	116196993	0.241000	0.23857	0.999000	0.59377	0.626000	0.37791	1.085000	0.30840	2.522000	0.85027	0.557000	0.71058	CCC		0.592	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		93	370	0	0	0	1	0	93	370					A	116691783	G	A	116691783	3	1	114	1	0	0	0	0	1	0	0	0	783	1232	43	2	203	2	APOA4	11	116691783	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	49490105	116691783	18314733	96	37106											
MLL	4297	broad.mit.edu	37	chr11	118343199	118343199	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccctccaattaaaattgcccGattagagtctacaccgaata	5	12	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118343199G>A	ENST00000389506.5	+	3	1325	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	KMT2A_ENST00000534358.1_Missense_Mutation_p.R442Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.R442Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	442					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)										AAAATTGCCCGATTAGAGTCT	0.463																																						ENST00000534358.1																			0											c.(1324-1326)cGa>cAa		lysine (K)-specific methyltransferase 2A							119	130	126					11																	118343199		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118343199G>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1325G>A	11.37:g.118343199G>A	ENSP00000374157:p.Arg442Gln					KMT2A_ENST00000354520.4_Missense_Mutation_p.R442Q|KMT2A_ENST00000389506.5_Missense_Mutation_p.R442Q	p.R442Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1348	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1325G>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272202	0.59649	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000328469	D;T;D;D	0.85861	-2.03;3.44;-2.04;-2.01	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.88426	0.6433	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.988	D	0.89124	0.3505	10	0.56958	D	0.05	.	18.6691	0.91504	0.0:0.0:1.0:0.0	.	442;442;475	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	Q	442;475;442;442;475	ENSP00000436786:R442Q;ENSP00000432391:R475Q;ENSP00000374157:R442Q;ENSP00000346516:R442Q	ENSP00000333556:R475Q	R	+	2	0	MLL	117848409	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	9.086000	0.94088	2.719000	0.93026	0.585000	0.79938	CGA		0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		150	587	0	0	0	1	0	150	587					A	118343199	G	A	118343199	3	1	114	1	0	0	0	0	1	0	0	0	9661	1058	37	1	1335	1	MLL	11	118343199	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1651416	118343199	16663317	97	37107											
IFT46	56912	broad.mit.edu	37	chr11	118416522	118416522	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	actcaccacagatcatgtcaAtgtactctgccaggctgcaa	7	13	4	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118416522A>G	ENST00000264021.3	-	10	1137	c.719T>C	c.(718-720)aTt>aCt	p.I240T	IFT46_ENST00000530872.1_Missense_Mutation_p.I291T|IFT46_ENST00000264020.2_Missense_Mutation_p.I291T|TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	240					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GATCATGTCAATGTACTCTGC	0.507																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(871-873)aTt>aCt		intraflagellar transport 46 homolog (Chlamydomonas)							180	148	159					11																	118416522		2200	4295	6495	SO:0001583	missense	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118416522A>G	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.719T>C	11.37:g.118416522A>G	ENSP00000264021:p.Ile240Thr					TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264021.3_Missense_Mutation_p.I240T|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Missense_Mutation_p.I291T	p.I291T	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			11	1249	-			240					A8K0F6|Q9H6V5	Missense_Mutation	SNP	ENST00000264021.3	37	c.872T>C	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.169425	0.38315	.	.	ENSG00000118096	ENST00000264021;ENST00000264020;ENST00000530872	T;T;T	0.48522	0.82;0.81;0.81	6.03	4.91	0.64330	.	0.364645	0.29335	N	0.012458	T	0.36936	0.0985	L	0.37561	1.115	0.41527	D	0.988432	B;B;B	0.21071	0.01;0.051;0.008	B;B;B	0.17433	0.012;0.018;0.011	T	0.16394	-1.0404	10	0.45353	T	0.12	-8.0521	9.5551	0.39334	0.8583:0.0:0.1417:0.0	.	291;240;291	E9PR06;Q9NQC8;Q9NQC8-2	.;IFT46_HUMAN;.	T	240;291;291	ENSP00000264021:I240T;ENSP00000264020:I291T;ENSP00000432384:I291T	ENSP00000264020:I291T	I	-	2	0	IFT46	117921732	0.998000	0.40836	0.992000	0.48379	0.823000	0.46562	3.755000	0.55197	1.104000	0.41587	0.533000	0.62120	ATT		0.507	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		68	393	0	0	0	1	0	68	393					G	118416522	A	G	118416522	3	3	114	1	0	0	0	0	1	0	0	0	7590	101	4	4	207	4	IFT46	11	118416522	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	73323	118416522	16589994	98	37108											
IFT46	56912	broad.mit.edu	37	chr11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-													tcagaatcagtttcagatgaAtcatcatcatcatcatcgtc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264020.2_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(274-276)del		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427683_118427685delATC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del					IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264021.3_In_Frame_Del_p.D41del	p.D92del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	651_653	-			41					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.274_276delGAT	CCDS53718.1																																																																																				0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		8	395						8	395	---	---	---	---	-	118427685	ATC	-	118427683	7	5	114	1	0	1	0	1	0	0	0	0	7590	98	4	0	827	0	IFT46	11	118427683	In_Frame_Del	DEL	ATC	TCGA-US-A77E-01A-11D-A32N-08	11161	118427683	16578833	99	37109											
UPK2	7379	broad.mit.edu	37	chr11	118828843	118828843	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cattgggctgggtatggcccGcacagggggcatggtggtca	18	9	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:118828843G>A	ENST00000264031.2	+	5	490	c.455G>A	c.(454-456)cGc>cAc	p.R152H	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	152					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)		GGTATGGCCCGCACAGGGGGC	0.617																																						ENST00000264031.2																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(454-456)cGc>cAc		uroplakin 2							109	106	107					11																	118828843		2200	4295	6495	SO:0001583	missense	7379				cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		g.chr11:118828843G>A	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.455G>A	11.37:g.118828843G>A	ENSP00000264031:p.Arg152His					UPK2_ENST00000534788.1_3'UTR	p.R152H	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	5	490	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)	152					B0YJ92|O00457|Q53YV0	Missense_Mutation	SNP	ENST00000264031.2	37	c.455G>A	CCDS8404.1	.	.	.	.	.	.	.	.	.	.	g	17.59	3.427814	0.62733	.	.	ENSG00000110375	ENST00000534788;ENST00000264031	T	0.41400	1.0	5.43	4.51	0.55191	.	0.151206	0.31134	N	0.008188	T	0.61311	0.2337	M	0.65975	2.015	0.26235	N	0.978957	D	0.89917	1.0	D	0.87578	0.998	T	0.56908	-0.7901	10	0.46703	T	0.11	-3.4525	13.3218	0.60436	0.0836:0.0:0.9164:0.0	.	152	O00526	UPK2_HUMAN	H	18;152	ENSP00000264031:R152H	ENSP00000264031:R152H	R	+	2	0	UPK2	118334053	1.000000	0.71417	0.969000	0.41365	0.873000	0.50193	3.661000	0.54503	0.802000	0.34089	-0.937000	0.02696	CGC		0.617	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1	NM_006760		5	372	0	0	0	1	0	5	372					A	118828843	G	A	118828843	3	1	114	1	0	0	0	0	1	0	0	0	17063	1087	38	1	473	1	UPK2	11	118828843	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	401160	118828843	16177673	100	37110											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284700	130284700	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggggaggggcagggccGcagcaggggcatccaggaga	21	9	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr11:130284700G>A	ENST00000257359.6	-	5	1998	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	431				YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806). {ECO:0000305}.	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)		GGGCAGGGCCGCAGCAGGGGC	0.652																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(1291-1293)gCg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 8							16	19	18					11																	130284700		1938	4103	6041	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130284700G>A	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.1292C>T	11.37:g.130284700G>A	ENSP00000257359:p.Ala431Val						p.A431V	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	5	1998	-	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)	431	YLTELLDGGHGDCLLDAPAAALPLPTGL -> FSGCHLQGW IHFKYLCKCVSELKCDLMP (in Ref. 3; AAF25806).				Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.1292C>T	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713736	0.15306	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	T	0.03580	3.88	5.42	4.5	0.54988	.	0.751547	0.12761	N	0.441396	T	0.03564	0.0102	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.38329	-0.9666	10	0.59425	D	0.04	.	9.1476	0.36942	0.0:0.119:0.5962:0.2848	.	431	Q9UP79	ATS8_HUMAN	V	431;460	ENSP00000257359:A431V	ENSP00000257359:A431V	A	-	2	0	ADAMTS8	129789910	0.000000	0.05858	0.040000	0.18447	0.079000	0.17450	0.809000	0.27168	1.264000	0.44198	0.655000	0.94253	GCG		0.652	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		40	147	0	0	0	1	0	40	147					A	130284700	G	A	130284700	3	1	114	1	0	0	0	0	1	0	0	0	272	1087	38	1	1397	1	ADAMTS8	11	130284700	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	11455857	130284700	4721816	101	37111											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	9	73						9	73	---	---	---	---	C	7080213	-	C	7080212	8	5	114	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-US-A77E-01A-11D-A32N-08		7080212	126771683	102	37112											
C1RL	51279	broad.mit.edu	37	chr12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaggaaggctgtgtgcGgaaggtcagccgcaaactcc	14	12	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:7254566G>A	ENST00000266542.4	-	3	510	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	140	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						GGCTGTGTGCGGAAGGTCAGC	0.622																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(418-420)Cgc>Tgc		complement component 1, r subcomponent-like							118	108	111					12																	7254566		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254566G>A	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.418C>T	12.37:g.7254566G>A	ENSP00000266542:p.Arg140Cys					C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000545280.1_Intron	p.R140C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			3	510	-			140			CUB.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.418C>T	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.842|5.842	0.339585|0.339585	0.11069|0.11069	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.30448	.|1.53;1.53;1.53;1.53	3.76|3.76	-0.133|-0.133	0.13485|0.13485	.|CUB (5);	.|1.399260	.|0.04433	.|N	.|0.369511	T|T	0.35799|0.35799	0.0944|0.0944	M|M	0.88640|0.88640	2.97|2.97	0.24098|0.24098	N|N	0.995883|0.995883	.|B;B;B	.|0.33919	.|0.432;0.038;0.285	.|B;B;B	.|0.27887	.|0.051;0.007;0.084	T|T	0.30268|0.30268	-0.9984|-0.9984	5|10	.|0.45353	.|T	.|0.12	.|.	3.3529|3.3529	0.07159|0.07159	0.2989:0.0:0.5228:0.1783|0.2989:0.0:0.5228:0.1783	.|.	.|140;140;140	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	L|C	39|140	.|ENSP00000266542:R140C;ENSP00000441885:R140C;ENSP00000437398:R140C;ENSP00000442611:R140C	.|ENSP00000266542:R140C	P|R	-|-	2|1	0|0	C1RL|C1RL	7145842|7145842	0.147000|0.147000	0.22687|0.22687	0.103000|0.103000	0.21229|0.21229	0.289000|0.289000	0.27227|0.27227	0.193000|0.193000	0.17116|0.17116	-0.034000|-0.034000	0.13713|0.13713	-1.529000|-1.529000	0.00923|0.00923	CCG|CGC		0.622	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		6	618	0	0	0	1	0	6	618					A	7254566	G	A	7254566	3	1	114	1	0	0	0	0	1	0	0	0	1980	1116	39	1	1061	1	C1RL	12	7254566	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	174354	7254566	126597329	103	37113											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-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						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	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.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	445						7	445	---	---	---	---	-	46318577	GGT	-	46318575	7	5	114	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-US-A77E-01A-11D-A32N-08	39064009	46318575	87533320	104	37114											
KRT72	140807	broad.mit.edu	37	chr12	52994910	52994910	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtccatctccacgttgagCggggccaggaggctcttgtt	15	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:52994910C>T	ENST00000537672.2	-	1	337	c.327G>A	c.(325-327)ccG>ccA	p.P109P	RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000354310.4_Silent_p.P109P|KRT72_ENST00000293745.2_Silent_p.P109P|KRT72_ENST00000398066.3_5'UTR	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	109	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P109P(1)		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)		CCACGTTGAGCGGGGCCAGGA	0.667																																						ENST00000293745.2																			1	Substitution - coding silent(1)	p.P109P(1)	large_intestine(1)	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						c.(325-327)ccG>ccA		keratin 72							82	76	78					12																	52994910		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52994910C>T	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.327G>A	12.37:g.52994910C>T						KRT72_ENST00000537672.2_Silent_p.P109P|KRT72_ENST00000354310.4_Silent_p.P109P|KRT72_ENST00000398066.3_5'UTR	p.P109P	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	1	412	-			109			Head.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.327G>A	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239736	0.39598	.	.	ENSG00000170486	ENST00000549979	.	.	.	4.49	-1.94	0.07571	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27123	-1.0083	4	.	.	.	.	1.5914	0.02655	0.2117:0.371:0.1662:0.2511	.	.	.	.	H	95	.	.	R	-	2	0	KRT72	51281177	0.000000	0.05858	0.947000	0.38551	0.805000	0.45488	-2.331000	0.01110	-0.362000	0.08113	-1.083000	0.02208	CGC		0.667	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		6	290	0	0	0	1	0	6	290					T	52994910	C	T	52994910	2	4	114	1	0	0	0	0	0	0	0	1	8515	755	27	1		1	KRT72	12	52994910	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	6676335	52994910	80856985	105	37115											
SPRYD4	283377	broad.mit.edu	37	chr12	56863123	56863123	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttcacctatgcccagcGcaagtggtacaccatgttgg	12	11	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:56863123G>A	ENST00000338146.5	+	2	461	c.386G>A	c.(385-387)cGc>cAc	p.R129H	MIP_ENST00000555551.1_5'Flank	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						TATGCCCAGCGCAAGTGGTAC	0.572																																						ENST00000338146.5																			0				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						c.(385-387)cGc>cAc		SPRY domain containing 4							137	127	130					12																	56863123		2203	4300	6503	SO:0001583	missense	283377					nucleus		g.chr12:56863123G>A	AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.386G>A	12.37:g.56863123G>A	ENSP00000338034:p.Arg129His						p.R129H	NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN			2	461	+			129			B30.2/SPRY.		A8K7A5	Missense_Mutation	SNP	ENST00000338146.5	37	c.386G>A	CCDS8920.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514600	0.96402	.	.	ENSG00000176422	ENST00000338146;ENST00000543121	T	0.61158	0.13	5.46	5.46	0.80206	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.102358	0.64402	D	0.000003	T	0.71796	0.3382	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.95	T	0.71101	-0.4690	10	0.51188	T	0.08	-18.1887	18.4593	0.90732	0.0:0.0:1.0:0.0	.	51;129	B4DUC9;Q8WW59	.;SPRY4_HUMAN	H	129;51	ENSP00000338034:R129H	ENSP00000338034:R129H	R	+	2	0	SPRYD4	55149390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.921000	0.56454	2.735000	0.93741	0.561000	0.74099	CGC		0.572	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_207344		6	625	0	0	0	1	0	6	625					A	56863123	G	A	56863123	3	1	114	1	0	0	0	0	1	0	0	0	15162	1087	38	1	392	1	SPRYD4	12	56863123	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	3868213	56863123	76988772	106	37116											
LRP1	4035	broad.mit.edu	37	chr12	57590012	57590012	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgagtgtctcagccgcaaGctcagtggctgcagccagga	13	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:57590012G>T	ENST00000243077.3	+	55	9310	c.8844G>T	c.(8842-8844)aaG>aaT	p.K2948N	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2948	EGF-like 11. {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)	TCAGCCGCAAGCTCAGTGGCT	0.632																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(8842-8844)aaG>aaT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						41	35	37					12																	57590012		2202	4298	6500	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57590012G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8844G>T	12.37:g.57590012G>T	ENSP00000243077:p.Lys2948Asn						p.K2948N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	55	9310	+			2948			EGF-like 11.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.8844G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334687	0.41297	.	.	ENSG00000123384	ENST00000243077	D	0.89681	-2.55	5.02	2.11	0.27256	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.000000	0.64402	D	0.000001	T	0.80989	0.4730	N	0.02685	-0.53	0.80722	D	1	D	0.61697	0.99	D	0.64776	0.929	T	0.74497	-0.3646	10	0.17832	T	0.49	.	6.2253	0.20703	0.2279:0.1436:0.6285:0.0	.	2948	Q07954	LRP1_HUMAN	N	2948	ENSP00000243077:K2948N	ENSP00000243077:K2948N	K	+	3	2	LRP1	55876279	0.962000	0.33011	1.000000	0.80357	0.982000	0.71751	0.431000	0.21444	0.687000	0.31509	0.655000	0.94253	AAG		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		5	148	1	0	1	1	1	5	148					T	57590012	G	T	57590012	3	4	114	1	0	0	0	0	1	0	0	0	8989	962	34	3	9062	3	LRP1	12	57590012	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	726889	57590012	76261883	107	37117											
FOXN4	121643	broad.mit.edu	37	chr12	109719343	109719343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggctggggctgaggtccGgcagggcgtgcagtggcggg	24	9	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr12:109719343G>A	ENST00000299162.5	-	9	1267	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L	FOXN4_ENST00000355216.1_Missense_Mutation_p.P208L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	388					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						GCTGAGGTCCGGCAGGGCGTG	0.657																																						ENST00000299162.5																			0				large_intestine(5)|lung(9)|ovary(2)	16						c.(1162-1164)cCg>cTg		forkhead box N4							34	28	30					12																	109719343		2203	4298	6501	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109719343G>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.1163C>T	12.37:g.109719343G>A	ENSP00000299162:p.Pro388Leu					FOXN4_ENST00000355216.1_Missense_Mutation_p.P208L	p.P388L	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN			9	1267	-			388					Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.1163C>T	CCDS9126.2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347910	0.61183	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.95482	-3.72;-3.4	4.49	3.58	0.41010	.	0.472963	0.19054	N	0.123947	D	0.96901	0.8988	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.69654	0.965;0.57	D	0.96418	0.9309	10	0.52906	T	0.07	-12.9682	13.1717	0.59602	0.0:0.0:0.8395:0.1605	.	388;388	A6H901;Q96NZ1	.;FOXN4_HUMAN	L	208;388	ENSP00000347354:P208L;ENSP00000299162:P388L	ENSP00000299162:P388L	P	-	2	0	FOXN4	108203726	1.000000	0.71417	0.819000	0.32651	0.417000	0.31264	4.115000	0.57865	1.212000	0.43366	0.561000	0.74099	CCG		0.657	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		29	101	0	0	0	1	0	29	101					A	109719343	G	A	109719343	3	1	114	1	0	0	0	0	1	0	0	0	6049	1116	39	1	398	1	FOXN4	12	109719343	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	52129331	109719343	24132552	108	37118											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							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)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	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.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	359						7	359	---	---	---	---	-	46542017	CT	-	46542016	7	5	114	1	0	1	0	1	0	0	0	0	17618	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-US-A77E-01A-11D-A32N-08		46542016	68627862	109	37119											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T													aatacaaaaaaatctgtcaaINStttttttttcttcaccagct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		8	523						8	523	---	---	---	---	T	60582734	-	T	60582733	7	5	114	1	0	1	1	0	0	0	0	0	4536	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-US-A77E-01A-11D-A32N-08	14040717	60582733	54587145	110	37120											
MMP14	4323	broad.mit.edu	37	chr14	23315041	23315041	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccatcgggaggccggccGgatgaggggactgaggagga	20	9	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:23315041G>A	ENST00000311852.6	+	10	1803	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	MMP14_ENST00000548162.1_Intron	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	514					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	GAGGCCGGCCGGATGAGGGGA	0.637																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1540-1542)ccG>ccA		matrix metallopeptidase 14 (membrane-inserted)							59	68	65					14																	23315041		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23315041G>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1542G>A	14.37:g.23315041G>A						MMP14_ENST00000548162.1_Intron	p.P514P	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	10	1803	+	all_cancers(95;9.47e-05)		514					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.1542G>A	CCDS9577.1																																																																																				0.637	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		4	238	0	0	0	1	0	4	238					A	23315041	G	A	23315041	2	1	114	1	0	0	0	0	0	0	0	1	9694	1103	39	1		1	MMP14	14	23315041	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		23315041	84034499	111	37121											
NKX2-8	26257	broad.mit.edu	37	chr14	37050517	37050517	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agacaggtaccgctgctgccGgaagcgccgctccaactcca	11	16	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:37050517G>A	ENST00000258829.5	-	2	527	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	104					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		CGCTGCTGCCGGAAGCGCCGC	0.662																																						ENST00000258829.5																			0				upper_aerodigestive_tract(1)	1						c.(310-312)Cgg>Tgg		NK2 homeobox 8							10	11	10					14																	37050517		2191	4291	6482	SO:0001583	missense	26257				liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:37050517G>A		CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"Homeoboxes / ANTP class : NKL subclass"	16364	protein-coding gene	gene with protein product		603245	"NK-2 homolog H (Drosophila)", "NK2 transcription factor related, locus 8 (Drosophila)"	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.310C>T	14.37:g.37050517G>A	ENSP00000258829:p.Arg104Trp						p.R104W	NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)	2	527	-	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		104					Q8IUT7	Missense_Mutation	SNP	ENST00000258829.5	37	c.310C>T	CCDS9660.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911256	0.92178	.	.	ENSG00000136327	ENST00000258829	D	0.96459	-4.02	4.25	4.25	0.50352	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.067264	0.64402	D	0.000008	D	0.97920	0.9316	M	0.80028	2.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.98869	1.0765	10	0.87932	D	0	.	15.8354	0.78793	0.0:0.0:1.0:0.0	.	104	O15522	NKX28_HUMAN	W	104	ENSP00000258829:R104W	ENSP00000258829:R104W	R	-	1	2	NKX2-8	36120268	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.079000	0.41577	2.186000	0.69663	0.549000	0.68633	CGG		0.662	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071844.6			3	46	0	0	0	1	0	3	46					A	37050517	G	A	37050517	3	1	114	1	0	0	0	0	1	0	0	0	10496	1115	39	1	413	1	NKX2-8	14	37050517	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	13735476	37050517	70299023	112	37122											
BTBD7	55727	broad.mit.edu	37	chr14	93709084	93709084	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgatgccttattgtggctGtacagatcgggaccaaaata	12	7	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:93709084G>A	ENST00000334746.5	-	11	3241	c.2934C>T	c.(2932-2934)taC>taT	p.Y978Y	BTBD7_ENST00000554565.1_Silent_p.Y627Y|BTBD7_ENST00000393170.2_Silent_p.Y552Y	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	978					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TATTGTGGCTGTACAGATCGG	0.483																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2932-2934)taC>taT		BTB (POZ) domain containing 7							148	133	138					14																	93709084		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93709084G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2934C>T	14.37:g.93709084G>A						BTBD7_ENST00000393170.2_Silent_p.Y552Y|BTBD7_ENST00000554565.1_Silent_p.Y627Y	p.Y978Y	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3241	-		all_cancers(154;0.08)	978					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.2934C>T	CCDS32146.1																																																																																				0.483	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		5	524	0	0	0	1	0	5	524					A	93709084	G	A	93709084	2	1	114	1	0	0	0	0	0	0	0	1	1550	1372	48	2		2	BTBD7	14	93709084	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	56658567	93709084	13640456	113	37123											
CLMN	79789	broad.mit.edu	37	chr14	95677190	95677190	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccactcctccaactgcccGcaaagtcctgcaccgccacg	7	21	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr14:95677190G>A	ENST00000298912.4	-	7	748	c.635C>T	c.(634-636)gCg>gTg	p.A212V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	212	Actin-binding.|CH 2. {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)		CCAACTGCCCGCAAAGTCCTG	0.567																																						ENST00000298912.4																			0				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						c.(634-636)gCg>gTg		calmin (calponin-like, transmembrane)							94	99	97					14																	95677190		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95677190G>A	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.635C>T	14.37:g.95677190G>A	ENSP00000298912:p.Ala212Val						p.A212V	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	7	748	-			212			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.635C>T	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	32	5.119023	0.94385	.	.	ENSG00000165959	ENST00000298912	T	0.59638	0.25	5.93	5.93	0.95920	Calponin homology domain (5);	0.000000	0.39341	N	0.001394	T	0.59797	0.2220	N	0.14661	0.345	0.80722	D	1	D	0.63046	0.992	P	0.57468	0.821	T	0.65113	-0.6247	10	0.72032	D	0.01	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	212	Q96JQ2	CLMN_HUMAN	V	212	ENSP00000298912:A212V	ENSP00000298912:A212V	A	-	2	0	CLMN	94746943	1.000000	0.71417	0.260000	0.24451	0.983000	0.72400	6.642000	0.74329	2.797000	0.96272	0.655000	0.94253	GCG		0.567	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			7	688	0	0	0	1	0	7	688					A	95677190	G	A	95677190	3	1	114	1	0	0	0	0	1	0	0	0	3551	1087	38	1	2401	1	CLMN	14	95677190	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1968106	95677190	11672350	114	37124											
CCPG1	9236	broad.mit.edu	37	chr15	55652689	55652689	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagctcagtgagtctttcccGtaagattgctatttcctttt	7	10	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:55652689G>A	ENST00000310958.6	-	8	1580	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	CCPG1_ENST00000442196.3_Missense_Mutation_p.R428W|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.R428W|DYX1C1-CCPG1_ENST00000565113.1_RNA	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	428					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)		p.R428W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGTCTTTCCCGTAAGATTGCT	0.423																																						ENST00000310958.6																			1	Substitution - Missense(1)	p.R428W(1)	endometrium(1)	autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1282-1284)Cgg>Tgg		cell cycle progression 1							176	164	168					15																	55652689		1873	4119	5992	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652689G>A	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.1282C>T	15.37:g.55652689G>A	ENSP00000311656:p.Arg428Trp					CCPG1_ENST00000569205.1_Missense_Mutation_p.R428W|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Missense_Mutation_p.R428W	p.R428W	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		all cancers(107;0.0354)	8	1580	-			428					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1282C>T	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844189	0.32606	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.38887	1.11;1.11	5.73	1.51	0.23008	.	0.193348	0.46758	D	0.000272	T	0.56124	0.1964	L	0.59436	1.845	0.09310	N	0.999992	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	P;P;P;P	0.62014	0.897;0.897;0.897;0.897	T	0.56956	-0.7893	10	0.87932	D	0	.	15.1991	0.73120	0.0:0.0:0.3862:0.6138	.	428;428;428;284	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	W	428	ENSP00000311656:R428W;ENSP00000403400:R428W	ENSP00000311656:R428W	R	-	1	2	DYX1C1	53439981	1.000000	0.71417	0.055000	0.19348	0.516000	0.34256	1.902000	0.39848	0.083000	0.17047	-0.182000	0.12963	CGG		0.423	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		6	761	0	0	0	1	0	6	761					A	55652689	G	A	55652689	3	1	114	1	0	0	0	0	1	0	0	0	2947	1144	40	1	995	1	CCPG1	15	55652689	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		55652689	46878703	115	37125											
TPM1	7168	broad.mit.edu	37	chr15	63353068	63353068	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgtcttcctgctgcagGtggcccgtaagctggtcatc	13	11	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:63353068G>T	ENST00000403994.3	+	5	573	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	TPM1_ENST00000358278.3_Splice_Site_p.V165L|TPM1_ENST00000334895.5_Splice_Site_p.V129L|TPM1_ENST00000559556.1_Splice_Site_p.V165L|TPM1_ENST00000559397.1_Splice_Site_p.V165L|TPM1_ENST00000560959.1_Splice_Site_p.V129L|TPM1_ENST00000559281.1_Splice_Site_p.V129L|TPM1_ENST00000267996.7_Splice_Site_p.V165L|TPM1_ENST00000288398.6_Splice_Site_p.V165L|TPM1_ENST00000404484.4_Splice_Site_p.V129L|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000357980.4_Splice_Site_p.V207L|TPM1_ENST00000317516.7_Splice_Site_p.V129L	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	165					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CCTGCTGCAGGTGGCCCGTAA	0.592																																						ENST00000357980.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.e6-1		tropomyosin 1 (alpha)							86	81	83					15																	63353068		2203	4300	6503	SO:0001630	splice_region_variant	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63353068G>T	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"Tropomyosins"	12010	protein-coding gene	gene with protein product		191010	"chromosome 15 open reading frame 13", "cardiomyopathy, hypertrophic 3"	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.493-1G>T	15.37:g.63353068G>T						TPM1_ENST00000358278.3_Splice_Site_p.V165_splice|TPM1_ENST00000334895.5_Splice_Site_p.V129_splice|TPM1_ENST00000317516.7_Splice_Site_p.V129_splice|TPM1_ENST00000559281.1_Splice_Site_p.V129_splice|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000288398.6_Splice_Site_p.V165_splice|TPM1_ENST00000559556.1_Splice_Site_p.V165_splice|TPM1_ENST00000559397.1_Splice_Site_p.V165_splice|TPM1_ENST00000560959.1_Splice_Site_p.V129_splice|TPM1_ENST00000267996.7_Splice_Site_p.V165_splice|TPM1_ENST00000404484.4_Splice_Site_p.V129_splice|TPM1_ENST00000403994.3_Splice_Site_p.V165_splice	p.V207_splice			P09493	TPM1_HUMAN			6	698	+			165					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Splice_Site	SNP	ENST00000403994.3	37	c.618_splice	CCDS45273.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490295	0.84962	.	.	ENSG00000140416	ENST00000288398;ENST00000267996;ENST00000358278;ENST00000403994;ENST00000357980;ENST00000404484;ENST00000334895;ENST00000317516	D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.58	5.58	0.84498	.	0.000000	0.44902	D	0.000411	D	0.99032	0.9669	M	0.92507	3.315	0.80722	D	1	P;P;D;P;B;B;P;D;D;D;D;P;P;P	0.69078	0.486;0.841;0.997;0.47;0.352;0.314;0.912;0.985;0.966;0.995;0.98;0.848;0.836;0.912	P;P;D;B;B;B;D;D;D;D;D;P;P;D	0.75020	0.622;0.846;0.985;0.337;0.261;0.366;0.919;0.957;0.961;0.965;0.979;0.817;0.87;0.919	D	0.99541	1.0963	9	.	.	.	-30.939	18.5512	0.91065	0.0:0.0:1.0:0.0	.	129;129;165;131;129;129;165;207;165;165;165;165;165;165	B7Z722;B7Z596;P09493-6;F5H7S3;D9YZV7;Q1ZYL5;D9YZV4;Q6ZN40;D9YZV8;D9YZV5;Q9Y427;D9YZV3;D9YZV2;P09493	.;.;.;.;.;.;.;.;.;.;.;.;.;TPM1_HUMAN	L	165;165;165;165;207;187;129;131	ENSP00000288398:V165L;ENSP00000267996:V165L;ENSP00000351022:V165L;ENSP00000385107:V165L;ENSP00000350667:V207L;ENSP00000334624:V129L	.	V	+	1	0	TPM1	61140121	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.869000	0.99810	2.628000	0.89032	0.491000	0.48974	GTG		0.592	TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004	Missense_Mutation	49	226	1	0	1.59911e-31	1	1.71098e-31	49	226					T	63353068	G	T	63353068	5	4	114	1	0	0	0	0	0	0	1	0	16458	1275	44	3	777	3	TPM1	15	63353068	Splice_Site	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	7700379	63353068	39178324	116	37126											
HOMER2	9455	broad.mit.edu	37	chr15	83561566	83561566	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaatctggaagacatgCgctcgggtggtgaagatggg	18	6	2	3	rs201522712		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:83561566C>T	ENST00000304231.8	-	2	225	c.33G>A	c.(31-33)gcG>gcA	p.A11A	HOMER2_ENST00000426485.1_Silent_p.A11A|HOMER2_ENST00000399166.2_Silent_p.A11A|HOMER2_ENST00000450735.2_Silent_p.A11A	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	11	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.A11A(1)		cervix(1)|endometrium(2)|lung(6)	9						GGAAGACATGCGCTCGGGTGG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17338	0.0		0.001	False		,,,				2504	0.0					ENST00000304231.8																			1	Substitution - coding silent(1)	p.A11A(1)	large_intestine(1)	cervix(1)|endometrium(2)|lung(6)	9						c.(31-33)gcG>gcA		homer homolog 2 (Drosophila)							141	140	141					15																	83561566		2008	4172	6180	SO:0001819	synonymous_variant	0				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83561566C>T	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.33G>A	15.37:g.83561566C>T						HOMER2_ENST00000450735.2_Silent_p.A11A|HOMER2_ENST00000399166.2_Silent_p.A11A|HOMER2_ENST00000426485.1_Silent_p.A11A	p.A11A	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN			2	225	-			11			WH1.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Silent	SNP	ENST00000304231.8	37	c.33G>A	CCDS45334.1																																																																																				0.483	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			5	471	0	0	0	1	0	5	471					T	83561566	C	T	83561566	2	4	114	1	0	0	0	0	0	0	0	1	7309	755	27	1		1	HOMER2	15	83561566	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	20208498	83561566	18969826	117	37127											
ACAN	176	broad.mit.edu	37	chr15	89399992	89399992	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctggagtagaggacatcagCgggcttccttctggagaagt	14	9	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr15:89399992C>T	ENST00000561243.1	+	11	4176	c.4176C>T	c.(4174-4176)agC>agT	p.S1392S	ACAN_ENST00000352105.7_Silent_p.S1392S|ACAN_ENST00000439576.2_Silent_p.S1392S|ACAN_ENST00000559004.1_Silent_p.S1392S			P16112	PGCA_HUMAN	aggrecan	1392	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)			AGGACATCAGCGGGCTTCCTT	0.552																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(4174-4176)agC>agT		aggrecan							38	33	35					15																	89399992		1659	3359	5018	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89399992C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4176C>T	15.37:g.89399992C>T						ACAN_ENST00000559004.1_Silent_p.S1392S|ACAN_ENST00000561243.1_Silent_p.S1392S|ACAN_ENST00000352105.7_Silent_p.S1392S	p.S1392S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	4550	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1392					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.4176C>T	CCDS53970.1																																																																																				0.552	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		7	899	0	0	0	1	0	7	899					T	89399992	C	T	89399992	2	4	114	1	0	0	0	0	0	0	0	1	117	767	27	1		1	ACAN	15	89399992	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5838426	89399992	13131400	118	37128											
GNPTG	84572	broad.mit.edu	37	chr16	1412884	1412884	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtttgctcacccagcacgGcatcccctacacgaggccca	9	17	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:1412884G>A	ENST00000204679.4	+	10	843	c.800G>A	c.(799-801)gGc>gAc	p.G267D	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	267					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)				ACCCAGCACGGCATCCCCTAC	0.567																																						ENST00000204679.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7						c.(799-801)gGc>gAc		N-acetylglucosamine-1-phosphate transferase, gamma subunit							89	95	93					16																	1412884		2199	4300	6499	SO:0001583	missense	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1412884G>A	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.800G>A	16.37:g.1412884G>A	ENSP00000204679:p.Gly267Asp						p.G267D	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN			10	843	+		Hepatocellular(780;0.0893)	267					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.800G>A	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161810	0.57368	.	.	ENSG00000090581	ENST00000204679	D	0.88664	-2.41	5.04	4.06	0.47325	.	0.332660	0.35466	N	0.003194	D	0.87325	0.6149	M	0.71581	2.175	0.38684	D	0.952614	P	0.40578	0.722	B	0.39185	0.293	D	0.89026	0.3438	10	0.51188	T	0.08	-35.0628	12.1825	0.54220	0.0896:0.0:0.9104:0.0	.	267	Q9UJJ9	GNPTG_HUMAN	D	267	ENSP00000204679:G267D	ENSP00000204679:G267D	G	+	2	0	GNPTG	1352885	0.997000	0.39634	0.551000	0.28230	0.143000	0.21401	1.542000	0.36137	2.527000	0.85204	0.650000	0.86243	GGC		0.567	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		6	463	0	0	0	1	0	6	463					A	1412884	G	A	1412884	3	1	114	1	0	0	0	0	1	0	0	0	6575	1203	42	2	838	2	GNPTG	16	1412884	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		1412884	88941869	119	37129											
PRSS27	83886	broad.mit.edu	37	chr16	2763623	2763623	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaactcggtgtctttgctGtagagcaggttgcacttggg	13	9	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:2763623G>A	ENST00000302641.3	-	5	639	c.585C>T	c.(583-585)taC>taT	p.Y195Y	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TGTCTTTGCTGTAGAGCAGGT	0.587																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(583-585)taC>taT		protease, serine 27							242	169	194					16																	2763623		2198	4300	6498	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2763623G>A	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.585C>T	16.37:g.2763623G>A							p.Y195Y	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			5	639	-			195			Peptidase S1.			Silent	SNP	ENST00000302641.3	37	c.585C>T	CCDS10476.1																																																																																				0.587	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		5	423	0	0	0	1	0	5	423					A	2763623	G	A	2763623	2	1	114	1	0	0	0	0	0	0	0	1	12668	1372	48	2		2	PRSS27	16	2763623	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1350739	2763623	87591130	120	37130											
XYLT1	64131	broad.mit.edu	37	chr16	17352929	17352929	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtctccccaatctcctggcGgcagtgcttggacttagcac	10	14	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:17352929G>A	ENST00000261381.6	-	3	913	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	277					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						ATCTCCTGGCGGCAGTGCTTG	0.607																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(829-831)Cgc>Tgc		xylosyltransferase I							69	64	66					16																	17352929		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17352929G>A	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.829C>T	16.37:g.17352929G>A	ENSP00000261381:p.Arg277Cys						p.R277C	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			3	913	-			277					Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.829C>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508056	0.85282	.	.	ENSG00000103489	ENST00000261381	T	0.07444	3.19	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03306	-1.1050	10	0.87932	D	0	-31.9029	18.2463	0.89986	0.0:0.0:1.0:0.0	.	277	Q86Y38	XYLT1_HUMAN	C	277	ENSP00000261381:R277C	ENSP00000261381:R277C	R	-	1	0	XYLT1	17260430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.547000	0.85894	0.655000	0.94253	CGC		0.607	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		73	344	0	0	0	1	0	73	344					A	17352929	G	A	17352929	3	1	114	1	0	0	0	0	1	0	0	0	17517	1116	39	1	2090	1	XYLT1	16	17352929	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	14589306	17352929	73001824	121	37131											
SMG1	23049	broad.mit.edu	37	chr16	18896965	18896965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacattttcaagaatAgactgcaggctggtcattac	8	9	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000565224.1_Silent_p.S256S|SMG1_ENST00000389467.3_Silent_p.S282S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	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						TTTCAAGAATAGACTGCAGGC	0.333																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(844-846)tcT>tcA		SMG1 phosphatidylinositol 3-kinase-related kinase							94	99	98					16																	18896965		985	2082	3067	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18896965A>T	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.846T>A	16.37:g.18896965A>T						SMG1_ENST00000565224.1_Silent_p.S256S|SMG1_ENST00000389467.3_Silent_p.S282S	p.S282S			Q96Q15	SMG1_HUMAN			7	1258	-			282			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.846T>A	CCDS45430.1																																																																																				0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	314	0	0	0	1	0	5	314					T	18896965	A	T	18896965	2	4	114	1	0	0	0	0	0	0	0	1	14845	407	15	5		5	SMG1	16	18896965	Silent	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	1544036	18896965	71457788	122	37132											
ZNF646	9726	broad.mit.edu	37	chr16	31090857	31090857	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggcagcctggtgaaccaccGcaagatccaccagactggag	13	13	0	3	rs375913989		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:31090857G>A	ENST00000394979.2	+	1	3635	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H			O15015	ZN646_HUMAN	zinc finger protein 646	1071					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						GTGAACCACCGCAAGATCCAC	0.617																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3211-3213)cGc>cAc		zinc finger protein 646		G	HIS/ARG	0,4394		0,0,2197	138	144	142		3212	4.8	1	16		142	1,8599		0,1,4299	no	missense	ZNF646	NM_014699.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1071/1833	31090857	1,12993	2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090857G>A	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.3212G>A	16.37:g.31090857G>A	ENSP00000378429:p.Arg1071His					ZNF646_ENST00000300850.5_Missense_Mutation_p.R1071H	p.R1071H			O15015	ZN646_HUMAN			1	3635	+			1071					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.3212G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.004264	0.74932	0.0	1.16E-4	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.52057	0.68;0.68	5.75	4.78	0.61160	.	.	.	.	.	T	0.33147	0.0853	L	0.31065	0.9	0.33612	D	0.603727	D	0.56521	0.976	B	0.41813	0.367	T	0.51498	-0.8698	9	0.62326	D	0.03	-15.9326	5.5911	0.17301	0.1514:0.0:0.6807:0.1679	.	1071	O15015-2	.	H	1071	ENSP00000300850:R1071H;ENSP00000378429:R1071H	ENSP00000300850:R1071H	R	+	2	0	ZNF646	30998358	0.512000	0.26186	1.000000	0.80357	0.987000	0.75469	1.081000	0.30791	1.389000	0.46526	0.563000	0.77884	CGC		0.617	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		8	1057	0	0	0	1	0	8	1057					A	31090857	G	A	31090857	3	1	114	1	0	0	0	0	1	0	0	0	18115	1087	38	1	3214	1	ZNF646	16	31090857	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	12193892	31090857	59263896	123	37133											
SLC6A2	6530	broad.mit.edu	37	chr16	55727937	55727937	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggtatggattgatgccGcaactcagatatttttttcc	8	8	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:55727937G>A	ENST00000379906.2	+	6	1189	c.934G>A	c.(934-936)Gca>Aca	p.A312T	SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	312					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)	GATTGATGCCGCAACTCAGAT	0.453																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(934-936)Gca>Aca		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						148	142	144					16																	55727937		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55727937G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.934G>A	16.37:g.55727937G>A	ENSP00000369237:p.Ala312Thr					SLC6A2_ENST00000568943.1_Missense_Mutation_p.A312T|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A207T|SLC6A2_ENST00000566163.1_Missense_Mutation_p.A267T|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A312T|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A312T|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A312T	p.A312T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	6	1189	+			312					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.934G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474824	0.43942	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.75938	-0.98;-0.98;-0.98	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.88418	0.6431	M	0.88031	2.925	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	0.998;0.998;0.998;0.996	D	0.91031	0.4864	10	0.87932	D	0	.	17.3376	0.87286	0.0:0.0:1.0:0.0	.	312;26;207;312	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	T	312;26;312;312	ENSP00000394956:A312T;ENSP00000369237:A312T;ENSP00000219833:A312T	ENSP00000219833:A312T	A	+	1	0	SLC6A2	54285438	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.501000	0.97979	2.196000	0.70406	0.561000	0.74099	GCA		0.453	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			5	538	0	0	0	1	0	5	538					A	55727937	G	A	55727937	3	1	114	1	0	0	0	0	1	0	0	0	14733	1087	38	1	1047	1	SLC6A2	16	55727937	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	24637080	55727937	34626816	124	37134											
KIFC3	3801	broad.mit.edu	37	chr16	57803635	57803635	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtcagcaagttggtccggaCgcctatggggacactcgggc	16	11	1	0	rs146824728	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:57803635C>T	ENST00000379655.4	-	9	1347	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	KIFC3_ENST00000543930.1_Missense_Mutation_p.V225I|KIFC3_ENST00000562903.1_Missense_Mutation_p.V225I|KIFC3_ENST00000465878.2_Missense_Mutation_p.V225I|KIFC3_ENST00000539578.1_Missense_Mutation_p.V306I|KIFC3_ENST00000445690.2_Missense_Mutation_p.V364I|KIFC3_ENST00000541240.1_Missense_Mutation_p.V386I|KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000540079.2_Missense_Mutation_p.V262I|KIFC3_ENST00000421376.2_Missense_Mutation_p.V225I	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	364					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)				TTGGTCCGGACGCCTATGGGG	0.667																																						ENST00000379655.4																			0				breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1090-1092)Gtc>Atc		kinesin family member C3		C	ILE/VAL,ILE/VAL,ILE/VAL	2,4394	6.2+/-15.9	0,2,2196	34	33	33		673,1090,1090	5.6	1	16	dbSNP_134	33	0,8600		0,0,4300	yes	missense,missense,missense	KIFC3	NM_001130099.1,NM_001130100.1,NM_005550.3	29,29,29	0,2,6496	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	225/688,364/827,364/834	57803635	2,12994	2198	4300	6498	SO:0001583	missense	3801				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	g.chr16:57803635C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1090G>A	16.37:g.57803635C>T	ENSP00000368976:p.Val364Ile					KIFC3_ENST00000421376.2_Missense_Mutation_p.V225I|KIFC3_ENST00000543930.1_Missense_Mutation_p.V225I|KIFC3_ENST00000541240.1_Missense_Mutation_p.V386I|KIFC3_ENST00000445690.2_Missense_Mutation_p.V364I|KIFC3_ENST00000562903.1_Missense_Mutation_p.V225I|KIFC3_ENST00000540079.2_Missense_Mutation_p.V262I|KIFC3_ENST00000539578.1_Missense_Mutation_p.V306I|KIFC3_ENST00000465878.2_Missense_Mutation_p.V225I	p.V364I	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN			9	1347	-		all_neural(199;0.224)	364					A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	ENST00000379655.4	37	c.1090G>A	CCDS10789.2	.	.	.	.	.	.	.	.	.	.	C	17.90	3.503117	0.64298	4.55E-4	0.0	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.74632	-0.82;-0.8;-0.79;-0.81;-0.78;-0.86;-0.79	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	L	0.54323	1.7	0.58432	D	0.999999	B;P;B;B;B;B;P	0.44627	0.4;0.839;0.4;0.133;0.088;0.4;0.495	B;B;B;B;B;B;B	0.36845	0.051;0.234;0.051;0.08;0.04;0.051;0.058	T	0.71024	-0.4712	10	0.35671	T	0.21	.	18.1742	0.89756	0.0:1.0:0.0:0.0	.	386;306;225;262;69;364;225	B7Z484;F5H4I9;B7Z896;F5H3M2;B7Z3I6;Q9BVG8;A8K6S2	.;.;.;.;.;KIFC3_HUMAN;.	I	364;364;225;386;262;225;306	ENSP00000368976:V364I;ENSP00000401696:V364I;ENSP00000396399:V225I;ENSP00000442008:V386I;ENSP00000438805:V262I;ENSP00000444012:V225I;ENSP00000444884:V306I	ENSP00000368976:V364I	V	-	1	0	KIFC3	56361136	1.000000	0.71417	0.987000	0.45799	0.186000	0.23388	5.980000	0.70516	2.624000	0.88883	0.655000	0.94253	GTC		0.667	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550		37	151	0	0	0	1	0	37	151					T	57803635	C	T	57803635	3	4	114	1	0	0	0	0	1	0	0	0	8344	536	19	1	1464	1	KIFC3	16	57803635	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	2075698	57803635	32551118	125	37135											
CDH11	1009	broad.mit.edu	37	chr16	65032559	65032559	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggaccttgacaatgaattcCgacggtggctccagtggccg	13	11	0	2	rs574599418		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:65032559C>T	ENST00000268603.4	-	4	1044	c.429G>A	c.(427-429)tcG>tcA	p.S143S	CDH11_ENST00000566827.1_Silent_p.S17S|CDH11_ENST00000394156.3_Silent_p.S143S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	143	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)		CAATGAATTCCGACGGTGGCT	0.557			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"cadherin 11, type 2, OB-cadherin (osteoblast)"			M	USP6		aneurysmal bone cysts		0				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						c.(427-429)tcG>tcA		cadherin 11, type 2, OB-cadherin (osteoblast)							130	105	113					16																	65032559		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032559C>T	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.429G>A	16.37:g.65032559C>T		TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Silent_p.S17S|CDH11_ENST00000268603.4_Silent_p.S143S	p.S143S			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	882	-		Ovarian(137;0.0973)	143			Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.429G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	7.100	0.573882	0.13623	.	.	ENSG00000140937	ENST00000536902	.	.	.	5.77	-11.5	0.00074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1085	0.10049	0.127:0.3975:0.2727:0.2028	.	.	.	.	.	-1	.	.	.	-	.	.	CDH11	63590060	0.000000	0.05858	0.005000	0.12908	0.809000	0.45718	-2.084000	0.01363	-3.488000	0.00154	-1.021000	0.02439	.		0.557	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		56	242	0	0	0	1	0	56	242					T	65032559	C	T	65032559	2	4	114	1	0	0	0	0	0	0	0	1	3106	639	23	1		1	CDH11	16	65032559	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	7228924	65032559	25322194	126	37136											
FHOD1	29109	broad.mit.edu	37	chr16	67273270	67273270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgatctcttcatagaagcCctccagcatctcccgctgct	6	17	3	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67273270C>T	ENST00000258201.4	-	2	536	c.289G>A	c.(289-291)Ggc>Agc	p.G97S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	97	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCATAGAAGCCCTCCAGCATC	0.582																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(289-291)Ggc>Agc		formin homology 2 domain containing 1							91	78	83					16																	67273270		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67273270C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.289G>A	16.37:g.67273270C>T	ENSP00000258201:p.Gly97Ser					FHOD1_ENST00000567687.1_Intron	p.G97S	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	2	536	-		Ovarian(137;0.0563)	97			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.289G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610778	0.46527	.	.	ENSG00000135723	ENST00000258201	T	0.20200	2.09	4.85	2.67	0.31697	GTPase-binding/formin homology 3 (1);	0.390655	0.28834	N	0.013983	T	0.15262	0.0368	L	0.41492	1.28	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07927	-1.0747	10	0.24483	T	0.36	.	8.5697	0.33561	0.0:0.8069:0.0:0.1931	.	97	Q9Y613	FHOD1_HUMAN	S	97	ENSP00000258201:G97S	ENSP00000258201:G97S	G	-	1	0	FHOD1	65830771	0.100000	0.21855	1.000000	0.80357	0.997000	0.91878	0.337000	0.19841	0.516000	0.28340	0.655000	0.94253	GGC		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			42	300	0	0	0	1	0	42	300					T	67273270	C	T	67273270	3	4	114	1	0	0	0	0	1	0	0	0	5907	623	22	2	3289	2	FHOD1	16	67273270	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	2240711	67273270	23081483	127	37137											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-													ccccagatcactgcctctccCagcagcagcagcagcggtag							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	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.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		10	419						10	419	---	---	---	---	-	67913769	CAG	-	67913767	7	5	114	1	0	1	0	1	0	0	0	0	4924	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-US-A77E-01A-11D-A32N-08	640497	67913767	22440986	128	37138											
SLC12A4	6560	broad.mit.edu	37	chr16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcaccacggagttatgccGcatgcctcccaggccacagg	11	16	0	0	rs370220716		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|LCAT_ENST00000264005.5_5'Flank	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2365-2367)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56	57	57		2359,2365,2341,2266,2359	2.2	1	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980419G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp					SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W	p.R789W	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2404	-		Ovarian(137;0.192)	787					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2365C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		6	340	0	0	0	1	0	6	340					A	67980419	G	A	67980419	3	1	114	1	0	0	0	0	1	0	0	0	14435	1086	38	1	926	1	SLC12A4	16	67980419	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	66652	67980419	22374334	129	37139											
WWP2	11060	broad.mit.edu	37	chr16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcccagtggtgtccGcaaagcccaaggtgcataat	9	12	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000569174.1_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(79-81)Gca>Aca		WW domain containing E3 ubiquitin protein ligase 2							117	115	116					16																	69832593		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69832593G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.79G>A	16.37:g.69832593G>A	ENSP00000352069:p.Ala27Thr		OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1117	WWP2_ENST00000569174.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T	p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			3	180	+			27			C2.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.79G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551721	0.86127	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.80738	-1.41;-1.41;-1.41	5.76	5.76	0.90799	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.198406	0.45606	D	0.000349	T	0.76054	0.3934	M	0.67397	2.05	0.80722	D	1	P	0.46020	0.871	B	0.32583	0.148	T	0.78339	-0.2242	9	.	.	.	.	16.6952	0.85333	0.0:0.0:1.0:0.0	.	27	O00308	WWP2_HUMAN	T	27	ENSP00000352069:A27T;ENSP00000396871:A27T;ENSP00000348283:A27T	.	A	+	1	0	WWP2	68390094	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.778000	0.62368	2.713000	0.92767	0.655000	0.94253	GCA		0.527	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		6	490	0	0	0	1	0	6	490					A	69832593	G	A	69832593	3	1	114	1	0	0	0	0	1	0	0	0	17470	1087	38	1	85	1	WWP2	16	69832593	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1852174	69832593	20522160	130	37140											
PLCG2	5336	broad.mit.edu	37	chr16	81942078	81942078	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ggttccacaagaaggtggagAagaggacgagtgccgagaag	17	6	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr16:81942078A>T	ENST00000359376.3	+	17	1829	c.1615A>T	c.(1615-1617)Aag>Tag	p.K539*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	539	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						GAAGGTGGAGAAGAGGACGAG	0.547																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(1615-1617)Aag>Tag		phospholipase C, gamma 2 (phosphatidylinositol-specific)							75	78	77					16																	81942078		1995	4162	6157	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942078A>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1615A>T	16.37:g.81942078A>T	ENSP00000352336:p.Lys539*						p.K539*	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			17	1829	+			539			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.1615A>T	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	40	8.275878	0.98737	.	.	ENSG00000197943	ENST00000359376	.	.	.	4.72	4.72	0.59763	.	0.385009	0.29884	N	0.010957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	7.2706	0.26254	0.8622:0.0:0.1378:0.0	.	.	.	.	X	539	.	ENSP00000352336:K539X	K	+	1	0	PLCG2	80499579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.998000	0.70653	1.770000	0.52166	0.460000	0.39030	AAG		0.547	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			45	191	0	0	0	1	0	45	191					T	81942078	A	T	81942078	4	4	114	1	0	0	0	0	0	1	0	0	12078	247	9	5	1677	5	PLCG2	16	81942078	Nonsense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	12109485	81942078	8412675	131	37141											
ZBTB4	57659	broad.mit.edu	37	chr17	7369754	7369754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggcaactccaggacccgggGtggggaagaagcagggggag	20	8	0	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:7369754G>A	ENST00000311403.4	-	3	706	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P123S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		AGGACCCGGGGTGGGGAAGAA	0.592																																						ENST00000311403.4																			0				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						c.(367-369)Ccc>Tcc		zinc finger and BTB domain containing 4							12	16	15					17																	7369754		2169	4265	6434	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7369754G>A	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.367C>T	17.37:g.7369754G>A	ENSP00000307858:p.Pro123Ser					ZBTB4_ENST00000380599.4_Missense_Mutation_p.P123S	p.P123S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	3	706	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	123			BTB.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.367C>T	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034919	0.35893	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.46451	0.87;0.87	4.5	4.5	0.54988	BTB/POZ-like (2);BTB/POZ fold (2);	0.081322	0.48286	N	0.000193	T	0.14485	0.0350	N	0.01464	-0.85	0.34368	D	0.691707	B	0.33413	0.411	B	0.23018	0.043	T	0.16719	-1.0393	10	0.59425	D	0.04	-17.1852	8.349	0.32290	0.1059:0.0:0.8941:0.0	.	123	Q9P1Z0	ZBTB4_HUMAN	S	123	ENSP00000307858:P123S;ENSP00000369973:P123S	ENSP00000307858:P123S	P	-	1	0	ZBTB4	7310478	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	1.958000	0.40402	2.332000	0.79248	0.462000	0.41574	CCC		0.592	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		7	82	0	0	0	1	0	7	82					A	7369754	G	A	7369754	3	1	114	1	0	0	0	0	1	0	0	0	17594	1261	44	2	2682	2	ZBTB4	17	7369754	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		7369754	73825456	132	37142											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		7	387	0	0	0	1	0	7	387					C	16285560	T	C	16285560	2	2	114	1	0	0	0	0	0	0	0	1	16895	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	8915806	16285560	64909650	133	37143											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240661	39240661	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	acccacctgctgtcgccccaCctgctgtgagacgacctgct	9	18	0	1	rs11650484	byFrequency	TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39240661C>G	ENST00000391417.4	+	1	203	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	68	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		T -> S. {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTCGCCCCACCTGCTGTGAG	0.657													g|||	3229	0.644768	0.9433	0.634	5008	,	,		18672	0.4177		0.6203	False		,,,				2504	0.5082					ENST00000391417.4																			0				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(202-204)aCc>aGc		keratin associated protein 4-7							17	30	26					17																	39240661		691	1591	2282	SO:0001583	missense	100132476							g.chr17:39240661C>G	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.203C>G	17.37:g.39240661C>G	ENSP00000375236:p.Thr68Ser						p.T68S	NM_033061.3	NP_149050.3					1	203	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.203C>G	CCDS45673.1	1292|1292	0.5915750915750916|0.5915750915750916	426|426	0.8658536585365854|0.8658536585365854	216|216	0.5966850828729282|0.5966850828729282	219|219	0.38286713286713286|0.38286713286713286	431|431	0.5686015831134564|0.5686015831134564	g|.	0.004|0.004	-2.356434|-2.356434	0.00217|0.00217	.|.	.|.	ENSG00000212722|ENSG00000240871	ENST00000377734|ENST00000391417	.|T	.|0.01215	.|5.16	3.78|3.78	-3.84|-3.84	0.04256|0.04256	.|.	.|4.898520	.|0.00659	.|N	.|0.000582	.|T	.|0.00012	.|0.0000	.|.	.|.	.|.	0.80722|0.80722	P|P	0.0|0.0	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.26710	.|-1.0095	.|8	.|0.02654	.|T	.|1	.|.	3.9478|3.9478	0.09355|0.09355	0.1799:0.497:0.1974:0.1257|0.1799:0.497:0.1974:0.1257	rs11650484|rs11650484	.|68	.|Q9BYR0	.|KRA47_HUMAN	.|S	-1|68	.|ENSP00000375236:T68S	.|ENSP00000375236:T68S	.|T	+|+	.|2	.|0	KRTAP4-9|KRTAP4-7	36494187|36494187	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.039000|0.039000	0.13416|0.13416	-2.567000|-2.567000	0.00916|0.00916	-0.884000|-0.884000	0.03976|0.03976	-0.383000|-0.383000	0.06682|0.06682	.|ACC		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			8	229	0	0	0	1	0	8	229					G	39240661	C	G	39240661	3	3	114	1	0	0	0	0	1	0	0	0	8586	507	18	5	205	5	KRTAP4-7	17	39240661	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	22955101	39240661	41954549	134	37144											
KRT36	8689	broad.mit.edu	37	chr17	39643660	39643660	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttgaccgtacgtctcagctcGatgatctccgtctggcagca	10	13	3	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:39643660G>A	ENST00000328119.6	-	5	929	c.930C>T	c.(928-930)atC>atT	p.I310I	KRT36_ENST00000393986.2_Silent_p.I260I	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	310	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GTCTCAGCTCGATGATCTCCG	0.627																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(778-780)atC>atT		keratin 36							76	56	63					17																	39643660		2203	4300	6503	SO:0001819	synonymous_variant	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643660G>A	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.930C>T	17.37:g.39643660G>A						KRT36_ENST00000328119.6_Silent_p.I310I	p.I260I			O76013	KRT36_HUMAN			6	992	-		Breast(137;0.000286)	310			Coil 2.|Rod.		Q86XG4	Silent	SNP	ENST00000328119.6	37	c.780C>T	CCDS11395.1																																																																																				0.627	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		19	113	0	0	0	1	0	19	113					A	39643660	G	A	39643660	2	1	114	1	0	0	0	0	0	0	0	1	8503	1048	37	1		1	KRT36	17	39643660	Silent	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	402999	39643660	41551550	135	37145											
ARMC7	79637	broad.mit.edu	37	chr17	73124988	73124988	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	catgcttcgcttctccctctCggccagcgccaggctccgga	10	18	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:73124988C>T	ENST00000245543.1	+	3	754	c.452C>T	c.(451-453)tCg>tTg	p.S151L	ARMC7_ENST00000581078.1_3'UTR|NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000579096.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	151						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TTCTCCCTCTCGGCCAGCGCC	0.701																																						ENST00000245543.1																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9						c.(451-453)tCg>tTg		armadillo repeat containing 7							25	23	24					17																	73124988		2203	4300	6503	SO:0001583	missense	79637						binding	g.chr17:73124988C>T	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"Armadillo repeat containing"	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.452C>T	17.37:g.73124988C>T	ENSP00000245543:p.Ser151Leu					ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	p.S151L	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	754	+	all_lung(278;0.14)|Lung NSC(278;0.168)		151					B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.452C>T	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697716	0.88830	.	.	ENSG00000125449	ENST00000245543	T	0.56444	0.46	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.071680	0.64402	D	0.000016	T	0.70228	0.3200	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.73219	-0.4052	10	0.72032	D	0.01	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	151	Q9H6L4	ARMC7_HUMAN	L	151	ENSP00000245543:S151L	ENSP00000245543:S151L	S	+	2	0	ARMC7	70636583	1.000000	0.71417	0.977000	0.42913	0.480000	0.33159	7.771000	0.85420	2.595000	0.87683	0.655000	0.94253	TCG		0.701	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		28	98	0	0	0	1	0	28	98					T	73124988	C	T	73124988	3	4	114	1	0	0	0	0	1	0	0	0	957	893	31	1	462	1	ARMC7	17	73124988	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	33481328	73124988	8070222	136	37146											
ENGASE	64772	broad.mit.edu	37	chr17	77081767	77081767	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtttgcttctcacggccgcCgggtagtcgggaggaggaga	17	10	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:77081767C>T	ENST00000579016.1	+	13	1766	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	589						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						TCACGGCCGCCGGGTAGTCGG	0.647																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1765-1767)cCg>cTg		endo-beta-N-acetylglucosaminidase							35	39	38					17																	77081767		2046	4201	6247	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77081767C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1766C>T	17.37:g.77081767C>T	ENSP00000462333:p.Pro589Leu						p.P589L	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			13	1766	+			589					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.1766C>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	4.447	0.082790	0.08533	.	.	ENSG00000167280	ENST00000545583	.	.	.	5.12	-2.66	0.06077	.	0.740232	0.11997	N	0.509178	T	0.22820	0.0551	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.17992	-1.0351	9	0.28530	T	0.3	-14.6675	0.6221	0.00780	0.2261:0.2603:0.1292:0.3843	.	589	Q8NFI3	ENASE_HUMAN	L	589	.	ENSP00000438577:P589L	P	+	2	0	ENGASE	74593362	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.211000	0.09332	-0.062000	0.13088	0.462000	0.41574	CCG		0.647	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		56	228	0	0	0	1	0	56	228					T	77081767	C	T	77081767	3	4	114	1	0	0	0	0	1	0	0	0	5136	652	23	1	1816	1	ENGASE	17	77081767	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	3956779	77081767	4113443	137	37147											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	16	11	0	2	rs551732034		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16426	0.001		0.0	False		,,,				2504	0.0					ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(181-183)Ggg>Agg		ectonucleotide pyrophosphatase/phosphodiesterase 7							59	50	53					17																	77705082		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77705082G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.181G>A	17.37:g.77705082G>A	ENSP00000332656:p.Gly61Arg						p.G61R	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		1	402	+			61						Missense_Mutation	SNP	ENST00000328313.5	37	c.181G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895068	0.72639	.	.	ENSG00000182156	ENST00000328313	D	0.86366	-2.11	4.36	3.39	0.38822	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.96861	3.895	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.95700	0.8748	10	0.87932	D	0	-44.2888	12.2432	0.54555	0.0846:0.0:0.9154:0.0	.	61	Q6UWV6	ENPP7_HUMAN	R	61	ENSP00000332656:G61R	ENSP00000332656:G61R	G	+	1	0	ENPP7	75319677	1.000000	0.71417	0.720000	0.30636	0.696000	0.40369	5.370000	0.66144	1.038000	0.40049	0.561000	0.74099	GGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		5	179	0	0	0	1	0	5	179					A	77705082	G	A	77705082	3	1	114	1	0	0	0	0	1	0	0	0	5153	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	623315	77705082	3490128	138	37148											
GAA	2548	broad.mit.edu	37	chr17	78085870	78085870	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaacctgcacaacctctaCggcctgaccgaagccatcgc	7	17	1	1	rs112517802		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr17:78085870C>T	ENST00000302262.3	+	12	1944	c.1725C>T	c.(1723-1725)taC>taT	p.Y575Y	GAA_ENST00000390015.3_Silent_p.Y575Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	575			Y -> C (in GSD2). {ECO:0000269|PubMed:22644586}.|Y -> S (in GSD2; juvenile form). {ECO:0000269|PubMed:14695532}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACAACCTCTACGGCCTGACCG	0.657																																						ENST00000302262.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1723-1725)taC>taT		glucosidase, alpha; acid	Acarbose(DB00284)						119	100	107					17																	78085870		2203	4300	6503	SO:0001819	synonymous_variant	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78085870C>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1725C>T	17.37:g.78085870C>T						GAA_ENST00000390015.3_Silent_p.Y575Y	p.Y575Y	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		12	1944	+	all_neural(118;0.117)		575		Y -> S (in GSD2; juvenile form).			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	ENST00000302262.3	37	c.1725C>T	CCDS32760.1																																																																																				0.657	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			85	343	0	0	0	1	0	85	343					T	78085870	C	T	78085870	2	4	114	1	0	0	0	0	0	0	0	1	6174	547	19	1		1	GAA	17	78085870	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	380788	78085870	3109340	139	37149											
KIAA0802	23255	broad.mit.edu	37	chr18	8793004	8793004	+	Frame_Shift_Del	DEL	C	C	-													cccaccgatcagctcaggggCccccccgttttacctgagca							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr18:8793004delC	ENST00000359865.3	+	8	2038	c.1896delC	c.(1894-1896)ggcfs	p.G632fs	SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2																					AGCTCAGGGGCCCCCCCGTTT	0.552																																						ENST00000359865.3																			0											c.(1894-1896)ggfs		SOGA family member 2							98	108	104					18																	8793004		2203	4300	6503	SO:0001589	frameshift_variant	23255							g.chr18:8793004delC																												ENST00000359865.3:c.1896delC	18.37:g.8793004delC	ENSP00000352927:p.Gly632fs					SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000400050.3_Intron	p.G632fs	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			8	2038	+			980						Frame_Shift_Del	DEL	ENST00000359865.3	37	c.1896delC	CCDS11841.1																																																																																				0.552	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			7	952						7	952	---	---	---	---	-	8793004	C	-	8793004	7	5	114	1	0	1	0	1	0	0	0	0	8224	726	26	0	1918	0	KIAA0802	18	8793004	Frame_Shift_Del	DEL	C	TCGA-US-A77E-01A-11D-A32N-08		8793004	69284244	140	37150											
CELF4	56853	broad.mit.edu	37	chr18	34854360	34854360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccatctgctgcattcgccGcatcgtgcgctccttgtcgg	11	15	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr18:34854360G>A	ENST00000591282.1	-	6	714	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	RP11-797E24.3_ENST00000588766.1_RNA|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.R238W|CELF4_ENST00000601019.1_Missense_Mutation_p.R238W|CELF4_ENST00000591287.1_Missense_Mutation_p.R238W|CELF4_ENST00000412753.1_Missense_Mutation_p.R239W|CELF4_ENST00000334919.5_Missense_Mutation_p.R229W|CELF4_ENST00000420428.2_Missense_Mutation_p.R239W|CELF4_ENST00000603232.1_Missense_Mutation_p.R239W|CELF4_ENST00000588597.1_Missense_Mutation_p.R228W			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	239	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				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)	p.R239W(1)		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						TGCATTCGCCGCATCGTGCGC	0.667																																						ENST00000420428.2																			1	Substitution - Missense(1)	p.R239W(1)	large_intestine(1)	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						c.(715-717)Cgg>Tgg		CUGBP, Elav-like family member 4							103	85	91					18																	34854360		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34854360G>A	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.715C>T	18.37:g.34854360G>A	ENSP00000464794:p.Arg239Trp					CELF4_ENST00000361795.5_Missense_Mutation_p.R238W|CELF4_ENST00000334919.5_Missense_Mutation_p.R229W|CELF4_ENST00000601019.1_Missense_Mutation_p.R238W|CELF4_ENST00000412753.1_Missense_Mutation_p.R239W|CELF4_ENST00000591282.1_Missense_Mutation_p.R239W|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000603232.1_Missense_Mutation_p.R239W|CELF4_ENST00000588597.1_Missense_Mutation_p.R228W|CELF4_ENST00000591287.1_Missense_Mutation_p.R238W	p.R239W	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN			6	1110	-			239			Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.715C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159388	0.78226	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T;T	0.06449	3.3;3.31;3.31	4.55	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	M	0.91510	3.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;1.0;0.999;0.996	T	0.19614	-1.0300	10	0.87932	D	0	-12.5849	12.0837	0.53686	0.0:0.0:0.7247:0.2753	.	238;228;229;238;239	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	W	239;239;238;229;122	ENSP00000355089:R239W;ENSP00000406823:R239W;ENSP00000335631:R229W	ENSP00000335631:R229W	R	-	1	2	CELF4	33108358	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.280000	0.43443	2.373000	0.80994	0.561000	0.74099	CGG		0.667	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		5	632	0	0	0	1	0	5	632					A	34854360	G	A	34854360	3	1	114	1	0	0	0	0	1	0	0	0	3227	1086	38	1	773	1	CELF4	18	34854360	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	26061356	34854360	43222888	141	37151											
MED16	10025	broad.mit.edu	37	chr19	868430	868430	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgcacaggcagttcttgatCcagcgctgctcccactgctt	9	16	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:868430C>T	ENST00000589119.1	-	14	2468	c.2469G>A	c.(2467-2469)tgG>tgA	p.W823*	MED16_ENST00000395808.3_Nonsense_Mutation_p.W823*|MED16_ENST00000312090.6_Nonsense_Mutation_p.W842*|MED16_ENST00000325464.1_Nonsense_Mutation_p.W823*|MED16_ENST00000269814.4_3'UTR			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	823					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTTGATCCAGCGCTGCT	0.667																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(2524-2526)tgG>tgA		mediator complex subunit 16							39	37	38					19																	868430		2201	4297	6498	SO:0001587	stop_gained	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:868430C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.2469G>A	19.37:g.868430C>T	ENSP00000464810:p.Trp823*					MED16_ENST00000395808.3_Nonsense_Mutation_p.W823*|MED16_ENST00000589119.1_Nonsense_Mutation_p.W823*|MED16_ENST00000269814.4_3'UTR|MED16_ENST00000325464.1_Nonsense_Mutation_p.W823*	p.W842*			Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2676	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	823					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Nonsense_Mutation	SNP	ENST00000589119.1	37	c.2526G>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	40	8.283552	0.98742	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808	.	.	.	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7101	15.6761	0.77326	0.0:1.0:0.0:0.0	.	.	.	.	X	823;842;823	.	ENSP00000308528:W842X	W	-	3	0	MED16	819430	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.266000	0.78452	1.941000	0.56285	0.511000	0.50034	TGG		0.667	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		13	147	0	0	0	1	0	13	147					T	868430	C	T	868430	4	4	114	1	0	0	0	0	0	1	0	0	9475	856	30	2	172	2	MED16	19	868430	Nonsense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		868430	58260553	142	37152											
GTF2F1	2962	broad.mit.edu	37	chr19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-													aaggcctcgtcgtctgaaccCttcttcttcttctttttcct							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)aagdel	p.K251del	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					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						CGTCTGAACCCTTCTTCTTCTTC	0.611																																						ENST00000394456.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						c.(751-753)del		general transcription factor IIF, polypeptide 1, 74kDa																																				SO:0001651	inframe_deletion	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6381791_6381793delCTT		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.751_753delAAG	19.37:g.6381800_6381802delCTT	ENSP00000377969:p.Lys251del					GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	p.K251del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN			7	1215_1217	-			251					B2RCS0|Q9BWN0	In_Frame_Del	DEL	ENST00000394456.5	37	c.751_753delAAG	CCDS12165.1																																																																																				0.611	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1	NM_002096		7	264						7	264	---	---	---	---	-	6381793	CTT	-	6381791	7	5	114	1	0	1	0	1	0	0	0	0	6888	680	24	0	828	0	GTF2F1	19	6381791	In_Frame_Del	DEL	CTT	TCGA-US-A77E-01A-11D-A32N-08	5513361	6381791	52747192	143	37153											
KIAA1543	57662	broad.mit.edu	37	chr19	7682262	7682262	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagccgcctgcctggaagccGcgaacgggactgggaaaatg	15	11	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:7682262G>A	ENST00000160298.4	+	15	3364	c.3263G>A	c.(3262-3264)cGc>cAc	p.R1088H	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.R1115H	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1088					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCTGGAAGCCGCGAACGGGAC	0.637																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(3343-3345)cGc>cAc		calmodulin regulated spectrin-associated protein family, member 3							65	75	72					19																	7682262		2053	4182	6235	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682262G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3263G>A	19.37:g.7682262G>A	ENSP00000160298:p.Arg1088His					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.R1088H	p.R1115H	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			17	3445	+			1088			CKK.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.3344G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957696	0.53400	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15256	2.44;2.44	4.97	3.94	0.45596	.	0.218217	0.39407	N	0.001369	T	0.32823	0.0842	L	0.57536	1.79	0.09310	N	1	D;B;D	0.76494	0.998;0.168;0.999	P;B;D	0.68192	0.904;0.007;0.956	T	0.05178	-1.0901	10	0.54805	T	0.06	-19.3716	9.0656	0.36460	0.1791:0.0:0.8209:0.0	.	1099;1088;1115	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	H	1115;1088	ENSP00000416797:R1115H;ENSP00000160298:R1088H	ENSP00000160298:R1088H	R	+	2	0	KIAA1543	7588262	1.000000	0.71417	0.454000	0.27019	0.562000	0.35680	4.169000	0.58223	1.094000	0.41399	0.462000	0.41574	CGC		0.637	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		76	306	0	0	0	1	0	76	306					A	7682262	G	A	7682262	3	1	114	1	0	0	0	0	1	0	0	0	8273	1087	38	1	3410	1	KIAA1543	19	7682262	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1300471	7682262	51446721	144	37154											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586705	15586705	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgccttggggtccaaaagcGtaaaggtccgaggggcagag	16	8	0	1	rs373142402		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:15586705G>A	ENST00000340880.4	-	2	1256	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.T259M	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	259					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						GTCCAAAAGCGTAAAGGTCCG	0.612													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19754	0.0		0.0	False		,,,				2504	0.0					ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(775-777)aCg>aTg		peptidoglycan recognition protein 2							35	35	35					19																	15586705		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586705G>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.776C>T	19.37:g.15586705G>A	ENSP00000345968:p.Thr259Met					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.T259M	p.T259M			Q96PD5	PGRP2_HUMAN			2	905	-			259					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.776C>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	g	3.963	-0.009976	0.07727	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.05025	3.53;3.51	5.31	3.19	0.36642	.	0.237201	0.32901	N	0.005502	T	0.07728	0.0194	M	0.76002	2.32	0.22819	N	0.998691	P;P	0.43431	0.807;0.576	B;B	0.37267	0.245;0.048	T	0.31943	-0.9925	10	0.66056	D	0.02	-22.5225	4.5625	0.12166	0.0828:0.1521:0.6077:0.1574	.	259;259	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	M	259	ENSP00000345968:T259M;ENSP00000292609:T259M	ENSP00000292609:T259M	T	-	2	0	PGLYRP2	15447705	0.978000	0.34361	0.446000	0.26920	0.000000	0.00434	2.391000	0.44424	0.647000	0.30713	-1.032000	0.02404	ACG		0.612	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		4	223	0	0	0	1	0	4	223					A	15586705	G	A	15586705	3	1	114	1	0	0	0	0	1	0	0	0	11836	1145	40	1	970	1	PGLYRP2	19	15586705	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	7904443	15586705	43542278	145	37155											
ZNF99	7652	broad.mit.edu	37	chr19	22941129	22941129	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctttccagtatgaattatctTatgttttctaagggctgaga	8	6	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:22941129T>G	ENST00000596209.1	-	4	1672	c.1582A>C	c.(1582-1584)Aag>Cag	p.K528Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.K437Q	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	528					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)				TGAATTATCTTATGTTTTCTA	0.333																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1309-1311)Aag>Cag		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941129T>G	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.1582A>C	19.37:g.22941129T>G	ENSP00000472969:p.Lys528Gln					ZNF99_ENST00000596209.1_Missense_Mutation_p.K528Q	p.K437Q							5	1308	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1309A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.033	-1.323055	0.01320	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.29	-1.59	0.08453	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	N	0.20610	0.595	0.09310	N	1	D	0.56035	0.974	P	0.62184	0.899	T	0.07195	-1.0785	9	0.02654	T	1	.	7.2218	0.25992	0.0:0.0:0.6996:0.3004	.	437	A8MXY4	ZNF99_HUMAN	Q	437	ENSP00000380293:K437Q	ENSP00000380293:K437Q	K	-	1	0	ZNF99	22732969	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-1.164000	0.03135	-0.293000	0.08986	0.329000	0.21502	AAG		0.333	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	188	0	0	0	1	0	4	188					G	22941129	T	G	22941129	3	3	114	1	0	0	0	0	1	0	0	0	18257	1763	61	4	1815	4	ZNF99	19	22941129	Missense_Mutation	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	7354424	22941129	36187854	146	37156											
ZNF780A	284323	broad.mit.edu	37	chr19	40581535	40581535	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatggttttacaccagAatgaatactctgatgttgaa	7	6	2	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:40581535A>C	ENST00000595687.2	-	6	1023	c.814T>G	c.(814-816)Tct>Gct	p.S272A	ZNF780A_ENST00000450241.2_Missense_Mutation_p.S238A|ZNF780A_ENST00000594395.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000340963.5_Missense_Mutation_p.S272A|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.S273A|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S273A(1)|p.S238A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTACACCAGAATGAATACTC	0.388																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.S273A(1)|p.S238A(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(712-714)Tct>Gct		zinc finger protein 780A							171	175	174					19																	40581535		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581535A>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.814T>G	19.37:g.40581535A>C	ENSP00000472189:p.Ser272Ala					ZNF780A_ENST00000594395.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000340963.5_Missense_Mutation_p.S272A|ZNF780A_ENST00000455521.1_Missense_Mutation_p.S273A|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.S272A	p.S238A			O75290	Z780A_HUMAN			6	1023	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		272					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.712T>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819004	0.32145	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.19806	2.12;2.12	1.92	-1.93	0.07594	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	L	0.31294	0.92	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31503	-0.9941	9	0.56958	D	0.05	.	2.3259	0.04222	0.2419:0.2846:0.0:0.4736	.	273;272	E9PB48;O75290	.;Z780A_HUMAN	A	272;273;272	ENSP00000400997:S273A;ENSP00000341507:S272A	ENSP00000341507:S272A	S	-	1	0	ZNF780A	45273375	0.895000	0.30542	0.545000	0.28153	0.813000	0.45954	0.030000	0.13688	-0.258000	0.09446	-0.780000	0.03373	TCT		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		5	890	0	0	0	1	0	5	890					C	40581535	A	C	40581535	3	2	114	1	0	0	0	0	1	0	0	0	18205	246	9	4	1242	4	ZNF780A	19	40581535	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	17640406	40581535	18547448	147	37157											
SHKBP1	92799	broad.mit.edu	37	chr19	41096643	41096643	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgccccccagcaggtggCctgacggagcaagagctgat	14	14	0	3			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:41096643C>T	ENST00000291842.5	+	17	1825	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	SHKBP1_ENST00000600733.1_Silent_p.G567G|LTBP4_ENST00000545697.1_5'Flank|LTBP4_ENST00000204005.9_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	592					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCAGGTGGCCTGACGGAGC	0.662																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1774-1776)ggC>ggT		SH3KBP1 binding protein 1							56	65	62					19																	41096643		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096643C>T	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.1776C>T	19.37:g.41096643C>T						SHKBP1_ENST00000600733.1_Silent_p.G567G	p.G592G	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1825	+			592					Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.1776C>T	CCDS12560.1																																																																																				0.662	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		79	447	0	0	0	1	0	79	447					T	41096643	C	T	41096643	2	4	114	1	0	0	0	0	0	0	0	1	14334	726	26	2		2	SHKBP1	19	41096643	Silent	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	515108	41096643	18032340	148	37158											
PSG6	5675	broad.mit.edu	37	chr19	43411874	43411874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctttaccctcggactgaccGggaggctctgaccatttagc	11	13	1	2	rs142652144		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:43411874G>A	ENST00000292125.2	-	4	883	c.839C>T	c.(838-840)cCg>cTg	p.P280L	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.P280L	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	280	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CGGACTGACCGGGAGGCTCTG	0.478													.|||	1	0.000199681	0.0	0.0014	5008	,	,		21246	0.0		0.0	False		,,,				2504	0.0					ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(838-840)cCg>cTg		pregnancy specific beta-1-glycoprotein 6		G	LEU/PRO,LEU/PRO	11,4391		0,11,2190	276	266	270		839,839	-1.3	0	19	dbSNP_134	270	0,8598		0,0,4299	no	missense,missense	PSG6	NM_001031850.2,NM_002782.3	98,98	0,11,6489	AA,AG,GG		0.0,0.2499,0.0846	,	280/425,280/436	43411874	11,12989	2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411874G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.839C>T	19.37:g.43411874G>A	ENSP00000292125:p.Pro280Leu					PSG6_ENST00000292125.2_Missense_Mutation_p.P280L|PSG6_ENST00000402603.4_Intron	p.P280L	NM_001031850.3	NP_001027020.1					4	904	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.839C>T	CCDS12613.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	0.009	-1.803836	0.00611	0.002499	0.0	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.13307	2.6;2.6	1.42	-1.33	0.09172	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21962	0.0529	L	0.52266	1.64	0.09310	N	1	D;B	0.89917	1.0;0.015	D;B	0.97110	1.0;0.038	T	0.16453	-1.0402	9	0.39692	T	0.17	.	1.6928	0.02856	0.2473:0.0:0.4168:0.3359	.	280;280	Q00889;Q00889-2	PSG6_HUMAN;.	L	280	ENSP00000187910:P280L;ENSP00000292125:P280L	ENSP00000187910:P280L	P	-	2	0	PSG6	48103714	0.000000	0.05858	0.005000	0.12908	0.184000	0.23303	0.090000	0.15025	-0.070000	0.12908	0.134000	0.15878	CCG		0.478	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		256	1084	0	0	0	1	0	256	1084					A	43411874	G	A	43411874	3	1	114	1	0	0	0	0	1	0	0	0	12706	1116	39	1	519	1	PSG6	19	43411874	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2315231	43411874	15717109	149	37159											
C5AR1	728	broad.mit.edu	37	chr19	47823129	47823129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtggataaaacttctaacaCgctgcgtgttccagacatcc	8	11	1	1	rs200400919		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:47823129C>T	ENST00000355085.3	+	2	117	c.95C>T	c.(94-96)aCg>aTg	p.T32M		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	32					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)	p.T32M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACTTCTAACACGCTGCGTGTT	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20641	0.0		0.0	False		,,,				2504	0.001					ENST00000355085.3																			1	Substitution - Missense(1)	p.T32M(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20						c.(94-96)aCg>aTg		complement component 5a receptor 1							168	142	150					19																	47823129		2203	4300	6503	SO:0001583	missense	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823129C>T		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.95C>T	19.37:g.47823129C>T	ENSP00000347197:p.Thr32Met						p.T32M	NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	117	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	32						Missense_Mutation	SNP	ENST00000355085.3	37	c.95C>T	CCDS33063.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030611	0.19512	.	.	ENSG00000197405	ENST00000355085	T	0.37411	1.2	3.85	-7.7	0.01259	.	0.484862	0.17251	U	0.181174	T	0.10423	0.0255	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	B	0.38296	0.27	T	0.32771	-0.9894	10	0.48119	T	0.1	.	2.3954	0.04388	0.2001:0.3146:0.3273:0.158	.	32	P21730	C5AR_HUMAN	M	32	ENSP00000347197:T32M	ENSP00000347197:T32M	T	+	2	0	C5AR1	52514969	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.504000	0.00449	-2.504000	0.00508	-0.792000	0.03331	ACG		0.532	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		69	286	0	0	0	1	0	69	286					T	47823129	C	T	47823129	3	4	114	1	0	0	0	0	1	0	0	0	2288	536	19	1	100	1	C5AR1	19	47823129	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	4411255	47823129	11305854	150	37160											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					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)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	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.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	169						7	169	---	---	---	---	-	50868838	GCA	-	50868836	7	5	114	1	0	1	0	1	0	0	0	0	10207	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-US-A77E-01A-11D-A32N-08	3045707	50868836	8260147	151	37161											
NLRP4	147945	broad.mit.edu	37	chr19	56369561	56369561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagtttgctgaggaagAagatgctcccggaggcctcc	14	10	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56369561A>G	ENST00000301295.6	+	3	1224	c.802A>G	c.(802-804)Aag>Gag	p.K268E	NLRP4_ENST00000587891.1_Missense_Mutation_p.K193E|NLRP4_ENST00000346986.5_Missense_Mutation_p.K268E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	268	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTGAGGAAGAAGATGCTCCC	0.592																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(802-804)Aag>Gag		NLR family, pyrin domain containing 4							74	82	79					19																	56369561		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369561A>G	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.802A>G	19.37:g.56369561A>G	ENSP00000301295:p.Lys268Glu					NLRP4_ENST00000346986.5_Missense_Mutation_p.K268E|NLRP4_ENST00000587891.1_Missense_Mutation_p.K193E	p.K268E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1224	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	268			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.802A>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876238	0.51801	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.79653	-1.29;-1.29	4.1	3.05	0.35203	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.81640	0.4865	L	0.41079	1.255	0.09310	N	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.947;0.984;0.991	T	0.67692	-0.5605	9	0.18276	T	0.48	.	6.9127	0.24344	0.629:0.0:0.0:0.371	.	268;193;268	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	E	268	ENSP00000301295:K268E;ENSP00000344787:K268E	ENSP00000301295:K268E	K	+	1	0	NLRP4	61061373	0.000000	0.05858	0.008000	0.14137	0.087000	0.18053	1.126000	0.31344	0.689000	0.31550	0.533000	0.62120	AAG		0.592	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		77	345	0	0	0	1	0	77	345					G	56369561	A	G	56369561	3	3	114	1	0	0	0	0	1	0	0	0	10521	247	9	4	808	4	NLRP4	19	56369561	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	5500725	56369561	2759422	152	37162											
NLRP8	126205	broad.mit.edu	37	chr19	56467178	56467178	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtctttcggtaataagaGgaaactgctgaaagtcatac	11	6	2	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr19:56467178G>A	ENST00000291971.3	+	3	1825	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	NLRP8_ENST00000590542.1_Missense_Mutation_p.R585K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	585					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)		GGTAATAAGAGGAAACTGCTG	0.498																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1753-1755)aGg>aAg		NLR family, pyrin domain containing 8							51	47	49					19																	56467178		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56467178G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1754G>A	19.37:g.56467178G>A	ENSP00000291971:p.Arg585Lys					NLRP8_ENST00000590542.1_Missense_Mutation_p.R585K	p.R585K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1825	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	585					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1754G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.716604	0.00706	.	.	ENSG00000179709	ENST00000291971	D	0.88431	-2.38	2.03	-3.26	0.05064	.	.	.	.	.	T	0.70649	0.3248	N	0.08118	0	0.09310	N	1	B;B	0.20780	0.036;0.048	B;B	0.13407	0.007;0.009	T	0.56703	-0.7935	9	0.18710	T	0.47	.	4.4176	0.11465	0.2921:0.221:0.4869:0.0	.	585;585	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	585	ENSP00000291971:R585K	ENSP00000291971:R585K	R	+	2	0	NLRP8	61158990	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.103000	0.10940	-1.059000	0.03193	-0.507000	0.04495	AGG		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		31	168	0	0	0	1	0	31	168					A	56467178	G	A	56467178	3	1	114	1	0	0	0	0	1	0	0	0	10525	1000	35	2	1764	2	NLRP8	19	56467178	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	97617	56467178	2661805	153	37163											
INSM1	3642	broad.mit.edu	37	chr20	20350394	20350394	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaacaagtgccacccatccGaaaacagacaggtgatcctc	7	14	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:20350394G>A	ENST00000310227.1	+	1	1630	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	495					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CCACCCATCCGAAAACAGACA	0.672																																						ENST00000310227.1																			0				liver(1)|lung(3)|ovary(1)|prostate(1)	6						c.(1483-1485)Gaa>Aaa		insulinoma-associated 1							18	21	20					20																	20350394		2178	4252	6430	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20350394G>A		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.1483G>A	20.37:g.20350394G>A	ENSP00000312631:p.Glu495Lys						p.E495K	NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	1630	+			495						Missense_Mutation	SNP	ENST00000310227.1	37	c.1483G>A	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524404	0.85600	.	.	ENSG00000173404	ENST00000310227	T	0.00856	5.61	5.41	5.41	0.78517	Zinc finger, C2H2 (1);	0.000000	0.64402	U	0.000001	T	0.01661	0.0053	M	0.61703	1.905	0.51482	D	0.999923	D	0.58620	0.983	B	0.39660	0.306	T	0.61589	-0.7032	10	0.87932	D	0	-11.8587	14.4248	0.67207	0.0729:0.0:0.9271:0.0	.	495	Q01101	INSM1_HUMAN	K	495	ENSP00000312631:E495K	ENSP00000312631:E495K	E	+	1	0	INSM1	20298394	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.963000	0.87922	2.522000	0.85027	0.650000	0.86243	GAA		0.672	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		31	186	0	0	0	1	0	31	186					A	20350394	G	A	20350394	3	1	114	1	0	0	0	0	1	0	0	0	7801	1059	37	1	1485	1	INSM1	20	20350394	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08		20350394	42675126	154	37164											
FOXA2	3170	broad.mit.edu	37	chr20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aggtccattttgtggggttgGtggtggtggtggctgtggtg	21	3	0	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:22562677G>C	ENST00000377115.4	-	3	1366	c.1185C>G	c.(1183-1185)caC>caG	p.H395Q	FOXA2_ENST00000419308.2_Missense_Mutation_p.H401Q	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	395	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(1183-1185)caC>caG		forkhead box A2							160	156	158					20																	22562677		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22562677G>C	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1185C>G	20.37:g.22562677G>C	ENSP00000366319:p.His395Gln					FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H401Q	p.H395Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	1387	-	Lung NSC(19;0.188)		395			Transactivation domain 2 (By similarity).		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.1185C>G	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336270	0.11013	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.89485	-2.51;-2.51;-2.52	4.15	-0.0701	0.13748	Forkhead box protein, C-terminal (1);	.	.	.	.	T	0.81451	0.4825	L	0.36672	1.1	0.32494	N	0.539792	B;B	0.14805	0.011;0.011	B;B	0.14023	0.01;0.01	T	0.74278	-0.3717	9	0.40728	T	0.16	.	8.4046	0.32608	0.4526:0.0:0.5474:0.0	.	395;401	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	Q	395;395;401;281	ENSP00000366319:H395Q;ENSP00000400341:H395Q;ENSP00000315955:H401Q	ENSP00000315955:H401Q	H	-	3	2	FOXA2	22510677	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	1.203000	0.32284	0.134000	0.18681	-0.348000	0.07805	CAC		0.612	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			5	347	0	0	0	1	0	5	347					C	22562677	G	C	22562677	3	2	114	1	0	0	0	0	1	0	0	0	6015	1252	44	5	192	5	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	2212283	22562677	40462843	155	37165											
NNAT	4826	broad.mit.edu	37	chr20	36149750	36149750	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	aaccatggcggcagtggcggCggcctcggctgaactgctca	15	13	1	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:36149750C>G	ENST00000062104.2	+	1	134	c.17C>G	c.(16-18)gCg>gGg	p.A6G	BLCAP_ENST00000397137.1_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.A6G|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000397134.1_5'Flank|BLCAP_ENST00000397135.1_Intron|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000373537.2_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	6					brain development (GO:0007420)|neuron differentiation (GO:0030182)|positive regulation of insulin secretion (GO:0032024)|protein lipoylation (GO:0009249)|regulation of protein localization (GO:0032880)|response to glucose (GO:0009749)|transport (GO:0006810)	cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GCAGTGGCGGCGGCCTCGGCT	0.627																																						ENST00000062104.2																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(16-18)gCg>gGg		neuronatin							142	145	144					20																	36149750		2203	4300	6503	SO:0001583	missense	4826				brain development|protein lipoylation|transport			g.chr20:36149750C>G		CCDS13296.1, CCDS13297.1	20q11.2-q12	2007-12-07			ENSG00000053438	ENSG00000053438			7860	protein-coding gene	gene with protein product		603106				8660979	Standard	NM_005386		Approved	Peg5	uc002xhd.3	Q16517	OTTHUMG00000032420	ENST00000062104.2:c.17C>G	20.37:g.36149750C>G	ENSP00000062104:p.Ala6Gly					BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000373537.2_Intron|NNAT_ENST00000346199.2_Missense_Mutation_p.A6G|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000397135.1_Intron	p.A6G	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN			1	134	+		Myeloproliferative disorder(115;0.00878)	6					B2R558|E1P5V6|Q16596|Q5U0N3	Missense_Mutation	SNP	ENST00000062104.2	37	c.17C>G	CCDS13296.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052781	0.55218	.	.	ENSG00000053438	ENST00000062104;ENST00000346199	.	.	.	4.59	4.59	0.56863	.	0.000000	0.48767	D	0.000176	T	0.71600	0.3359	.	.	.	0.33830	D	0.630072	D;D	0.61080	0.989;0.989	D;D	0.64237	0.923;0.923	T	0.80132	-0.1510	8	0.87932	D	0	-8.0572	13.2076	0.59807	0.0:1.0:0.0:0.0	.	6;6	Q16517-2;Q16517	.;NNAT_HUMAN	G	6	.	ENSP00000062104:A6G	A	+	2	0	NNAT	35583164	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	2.991000	0.49409	2.836000	0.97738	0.655000	0.94253	GCG		0.627	NNAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079116.2	NM_005386		29	1217	0	0	0	1	0	29	1217					G	36149750	C	G	36149750	3	3	114	1	0	0	0	0	1	0	0	0	10550	768	27	5	19	5	NNAT	20	36149750	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	13587073	36149750	26875770	156	37166											
L3MBTL	26013	broad.mit.edu	37	chr20	42143799	42143799	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagctgttccaggagcGgtaaggggaggaggtcgcag	17	10	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:42143799G>A	ENST00000427442.2	+	5	746	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373135.3_Splice_Site_p.R128Q|L3MBTL1_ENST00000418998.1_Splice_Site_p.R196Q|L3MBTL1_ENST00000373134.1_Splice_Site_p.R128Q|L3MBTL1_ENST00000444063.1_Splice_Site_p.R128Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	128					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						TTCCAGGAGCGGTAAGGGGAG	0.622																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.e2+1		l(3)mbt-like 1 (Drosophila)							64	63	63					20																	42143799		2203	4300	6503	SO:0001630	splice_region_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42143799G>A	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.587+1G>A	20.37:g.42143799G>A						L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000427442.2_Splice_Site_p.R196_splice|L3MBTL1_ENST00000418998.1_Splice_Site_p.R196_splice|L3MBTL1_ENST00000373135.3_Splice_Site_p.R128_splice|L3MBTL1_ENST00000373134.1_Splice_Site_p.R128_splice	p.R128_splice			Q9Y468	LMBL1_HUMAN			2	515	+			128					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Splice_Site	SNP	ENST00000427442.2	37	c.383_splice	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	32	5.172381	0.94807	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134	D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96	4.81	3.85	0.44370	.	0.000000	0.56097	D	0.000024	D	0.96109	0.8732	M	0.65498	2.005	0.80722	D	1	D;D;P;P	0.76494	0.994;0.999;0.948;0.621	P;P;P;B	0.55545	0.615;0.778;0.479;0.057	D	0.94672	0.7857	9	.	.	.	.	8.315	0.32095	0.1069:0.0:0.8931:0.0	.	196;128;128;128	Q9Y468-5;Q9Y468;Q9Y468-2;Q9Y468-1	.;LMBL1_HUMAN;.;.	Q	196;196;128;128;128	ENSP00000402107:R196Q;ENSP00000398516:R196Q;ENSP00000362227:R128Q;ENSP00000403316:R128Q;ENSP00000362226:R128Q	.	R	+	2	0	L3MBTL1	41577213	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.545000	0.45769	2.391000	0.81399	0.655000	0.94253	CGG		0.622	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	Missense_Mutation	23	469	0	0	0	1	0	23	469					A	42143799	G	A	42143799	5	1	114	1	0	0	0	0	0	0	1	0	8622	1130	39	1	389	1	L3MBTL	20	42143799	Splice_Site	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	5994049	42143799	20881721	157	37167											
PREX1	57580	broad.mit.edu	37	chr20	47324917	47324917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagggcactctggaccgCggggtggtctgggtgcttgc	18	11	2	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:47324917C>T	ENST00000371941.3	-	6	686	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	PREX1_ENST00000396220.1_Missense_Mutation_p.A222T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	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)			CTCTGGACCGCGGGGTGGTCT	0.582																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(664-666)Gcg>Acg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							119	129	126					20																	47324917		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47324917C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.664G>A	20.37:g.47324917C>T	ENSP00000361009:p.Ala222Thr					PREX1_ENST00000371941.3_Missense_Mutation_p.A222T	p.A222T			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		6	686	-			222			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.664G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965570	0.53507	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.64085	-0.08;-0.08	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.53938	U	0.000049	T	0.65575	0.2704	L	0.40543	1.245	0.41921	D	0.990515	D	0.55800	0.973	P	0.51777	0.679	T	0.61337	-0.7083	10	0.29301	T	0.29	.	19.7013	0.96054	0.0:1.0:0.0:0.0	.	222	Q8TCU6	PREX1_HUMAN	T	222	ENSP00000361009:A222T;ENSP00000379522:A222T	ENSP00000361009:A222T	A	-	1	0	PREX1	46758324	1.000000	0.71417	0.163000	0.22734	0.196000	0.23810	4.780000	0.62382	2.657000	0.90304	0.655000	0.94253	GCG		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		175	1034	0	0	0	1	0	175	1034					T	47324917	C	T	47324917	3	4	114	1	0	0	0	0	1	0	0	0	12523	768	27	1	4455	1	PREX1	20	47324917	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08	5181118	47324917	15700603	158	37168											
GNAS	2778	broad.mit.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	10	13	3	1	rs121913495		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000313949.7_3'UTR	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		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)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		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)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"	E			pituitary adenoma		88	Substitution - Missense(88)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(2530-2532)cGt>cAt		GNAS complex locus							80	78	79					20																	57484421		2203	4300	6503	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484421G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His	TSP Lung(22;0.16)				GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371085.3_Missense_Mutation_p.R201H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H	p.R844H	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		8	3083	+	all_lung(29;0.0104)		201					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2531G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		113	255	0	0	0	1	0	113	255					A	57484421	G	A	57484421	3	1	114	1	0	0	0	0	1	0	0	0	6539	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	10159504	57484421	5541099	159	37169											
DIDO1	11083	broad.mit.edu	37	chr20	61511303	61511303	+	Frame_Shift_Del	DEL	T	T	-													atcgcgaaggggtctgctcaTttttttcagaaaagggtgcg							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:61511303delT	ENST00000266070.4	-	16	6330	c.6005delA	c.(6004-6006)aatfs	p.N2002fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2002	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)					GGTCTGCTCATTTTTTTCAGA	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(6004-6006)atfs		death inducer-obliterator 1							71	88	82					20																	61511303		2202	4298	6500	SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511303delT	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.6005delA	20.37:g.61511303delT	ENSP00000266070:p.Asn2002fs					DIDO1_ENST00000395343.1_Frame_Shift_Del_p.N2002fs	p.N2002fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6330	-	Breast(26;5.68e-08)		2002			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	ENST00000266070.4	37	c.6005delA	CCDS33506.1																																																																																				0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	1136						7	1136	---	---	---	---	-	61511303	T	-	61511303	7	5	114	1	0	1	0	1	0	0	0	0	4538	1493	52	0	721	0	DIDO1	20	61511303	Frame_Shift_Del	DEL	T	TCGA-US-A77E-01A-11D-A32N-08	4026882	61511303	1514217	160	37170											
KCNQ2	3785	broad.mit.edu	37	chr20	62078155	62078158	+	Frame_Shift_Del	DEL	ACAG	ACAG	-													actccttgatggtggaaaacAcagacagcacgaggcaggag							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:62078155_62078158delACAG	ENST00000359125.2	-	2	503_506	c.329_332delCTGT	c.(328-333)tctgtgfs	p.SV110fs	KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000354587.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.SV110fs|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000344462.4_Frame_Shift_Del_p.SV110fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	110					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)	GGTGGAAAACACAGACAGCACGAG	0.632																																						ENST00000354587.3																			0				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						c.(328-333)tgfs		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)																																			SO:0001589	frameshift_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62078155_62078158delACAG	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.329_332delCTGT	20.37:g.62078159_62078162delACAG	ENSP00000352035:p.Ser110fs					KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000430658.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000359125.2_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370226.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370221.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000344462.3_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.SV110fs|KCNQ2_ENST00000370222.3_Frame_Shift_Del_p.SV110fs	p.SV110fs			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		2	505_508	-	all_cancers(38;1.24e-11)		110					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Del	DEL	ENST00000359125.2	37	c.329_332delCTGT	CCDS13520.1																																																																																				0.632	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		88	726						88	726	---	---	---	---	-	62078158	ACAG	-	62078155	7	5	114	1	0	1	0	1	0	0	0	0	8113	159	6	0	2414	0	KCNQ2	20	62078155	Frame_Shift_Del	DEL	ACAG	TCGA-US-A77E-01A-11D-A32N-08	566852	62078155	947365	161	37171											
RTEL1	51750	broad.mit.edu	37	chr20	62292822	62292824	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgtcatcctggggcaacGctgctgctgctgctggagac							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr20:62292822_62292824delGCT	ENST00000360203.5	+	3	599_601	c.274_276delGCT	c.(274-276)gctdel	p.A96del	RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000318100.4_In_Frame_Del_p.A96del|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del					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																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(274-276)del		regulator of telomere elongation helicase 1																																				SO:0001651	inframe_deletion	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62292822_62292824delGCT	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					RTEL1_ENST00000360203.5_In_Frame_Del_p.A96del|RTEL1_ENST00000508582.2_In_Frame_Del_p.A96del|RTEL1_ENST00000370018.3_In_Frame_Del_p.A96del|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.A96del	p.A96del			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		3	1101_1103	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		96			Helicase ATP-binding.			In_Frame_Del	DEL	ENST00000360203.5	37	c.274_276delGCT																																																																																					0.645	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		7	217						7	217	---	---	---	---	-	62292824	GCT	-	62292822	7	5	114	1	0	1	0	1	0	0	0	0	13770	1087	38	0	280	0	RTEL1	20	62292822	In_Frame_Del	DEL	GCT	TCGA-US-A77E-01A-11D-A32N-08	214667	62292822	732698	162	37172											
C21orf7	56911	broad.mit.edu	37	chr21	30532269	30532269	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgtttgtgaagcccctgcCgccttgtcatgactccgagg	12	12	1	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:30532269C>T	ENST00000399947.2	+	8	717	c.440C>T	c.(439-441)cCg>cTg	p.P147L	MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P41L|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P147L|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P47L	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	147						cytosol (GO:0005829)|nucleus (GO:0005634)											AAGCCCCTGCCGCCTTGTCAT	0.428																																						ENST00000399935.2																			0											c.(139-141)cCg>cTg		MAP3K7 C-terminal like							131	126	128					21																	30532269		2203	4300	6503	SO:0001583	missense	56911							g.chr21:30532269C>T	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"chromosome 21 open reading frame 7"	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.440C>T	21.37:g.30532269C>T	ENSP00000382828:p.Pro147Leu					MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P41L|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P147L|MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.P147L|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P47L|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P47L	p.P47L							9	807	+								D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.140C>T	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598573	0.66332	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.48522	0.81;0.81	4.65	4.65	0.58169	.	0.132552	0.50627	D	0.000108	T	0.60702	0.2289	L	0.35854	1.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.62291	-0.6885	10	0.51188	T	0.08	-14.5871	18.4217	0.90592	0.0:1.0:0.0:0.0	.	47;147	B0EVZ8;P57077	.;TAK1L_HUMAN	L	41;147;47;47;147;47;47;47;47;47	ENSP00000343212:P147L;ENSP00000382828:P147L	ENSP00000345777:P47L	P	+	2	0	C21orf7	29454140	1.000000	0.71417	0.972000	0.41901	0.876000	0.50452	6.441000	0.73439	2.493000	0.84123	0.655000	0.94253	CCG		0.428	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		58	295	0	0	0	1	0	58	295					T	30532269	C	T	30532269	3	4	114	1	0	0	0	0	1	0	0	0	2139	652	23	1	462	1	C21orf7	21	30532269	Missense_Mutation	SNP	C	TCGA-US-A77E-01A-11D-A32N-08		30532269	17597626	163	37173											
U2AF1	7307	broad.mit.edu	37	chr21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tcggtttattgtgcaaccgaGagcacctgtctccatgacga	10	11	1	2	rs371769427		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					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)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"CLL, MDS"		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tTt		U2 small nuclear RNA auxiliary factor 1		G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>A	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.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe					U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	p.S34F	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>T	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		32	166	0	0	0	1	0	32	166					A	44524456	G	A	44524456	3	1	114	1	0	0	0	0	1	0	0	0	16875	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	13992187	44524456	3605439	164	37174											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057737	46057737	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agcagtctagctgccagccaActtgctgcacctcctcccca	7	18	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:46057737A>T	ENST00000380095.1	+	1	465	c.403A>T	c.(403-405)Act>Tct	p.T135S	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	135	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCCAGCCAACTTGCTGCAC	0.607																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(403-405)Act>Tct		keratin associated protein 10-10							272	246	255					21																	46057737		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057737A>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.403A>T	21.37:g.46057737A>T	ENSP00000369438:p.Thr135Ser					TSPEAR_ENST00000323084.4_Intron	p.T135S	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	465	+			135			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.403A>T	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.712039	0.00005	.	.	ENSG00000221859	ENST00000380095	T	0.01005	5.45	3.27	-6.54	0.01860	.	.	.	.	.	T	0.00328	0.0010	N	0.01535	-0.81	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41645	-0.9497	9	0.02654	T	1	.	2.6704	0.05065	0.2972:0.0818:0.4066:0.2143	.	135	P60014	KR10A_HUMAN	S	135	ENSP00000369438:T135S	ENSP00000369438:T135S	T	+	1	0	KRTAP10-10	44882165	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	-4.866000	0.00176	-3.390000	0.00173	-3.154000	0.00058	ACT		0.607	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		12	1226	0	0	0	1	0	12	1226					T	46057737	A	T	46057737	3	4	114	1	0	0	0	0	1	0	0	0	8536	43	2	5	405	5	KRTAP10-10	21	46057737	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	1533281	46057737	2072158	165	37175											
COL6A2	1292	broad.mit.edu	37	chr21	47552344	47552344	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccttgggcagcgacGtggacatggacgtgctcacc	15	12	1	0	rs140020002		TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47552344G>A	ENST00000300527.4	+	28	3042	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	980	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)		GGGCAGCGACGTGGACATGGA	0.662																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2938-2940)Gtg>Atg		collagen, type VI, alpha 2		G	MET/VAL	2,4402	4.2+/-10.8	0,2,2200	70	58	62		2938	4.4	1	21	dbSNP_134	62	0,8600		0,0,4300	no	missense	COL6A2	NM_001849.3	21	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	980/1020	47552344	2,13002	2202	4300	6502	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552344G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2938G>A	21.37:g.47552344G>A	ENSP00000300527:p.Val980Met						p.V980M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	3042	+	Breast(49;0.245)		980			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2938G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717812	0.30413	4.54E-4	0.0	ENSG00000142173	ENST00000300527	T	0.80393	-1.37	4.4	4.4	0.53042	von Willebrand factor, type A (3);	0.388276	0.26069	N	0.026522	D	0.86887	0.6041	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.87150	0.2208	10	0.56958	D	0.05	-16.4704	10.6536	0.45663	0.0893:0.0:0.9107:0.0	.	980	P12110	CO6A2_HUMAN	M	980	ENSP00000300527:V980M	ENSP00000300527:V980M	V	+	1	0	COL6A2	46376772	1.000000	0.71417	0.994000	0.49952	0.290000	0.27261	5.117000	0.64667	2.001000	0.58596	0.297000	0.19635	GTG		0.662	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			37	119	0	0	0	1	0	37	119					A	47552344	G	A	47552344	3	1	114	1	0	0	0	0	1	0	0	0	3709	1145	40	1	3374	1	COL6A2	21	47552344	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	1494607	47552344	577551	166	37176											
MCM3AP	8888	broad.mit.edu	37	chr21	47664991	47664991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgcctctctcttctgtcatGgaaaaagcggccactaaact	7	13	4	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr21:47664991G>A	ENST00000397708.1	-	24	5022	c.4768C>T	c.(4768-4770)Cat>Tat	p.H1590Y	MCM3AP_ENST00000291688.1_Missense_Mutation_p.H1590Y|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|AP001469.7_ENST00000444966.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1590					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)					CTTCTGTCATGGAAAAAGCGG	0.552																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(4768-4770)Cat>Tat		minichromosome maintenance complex component 3 associated protein							71	72	72					21																	47664991		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47664991G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4768C>T	21.37:g.47664991G>A	ENSP00000380820:p.His1590Tyr					MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.H1590Y	p.H1590Y			O60318	MCM3A_HUMAN			24	5022	-	Breast(49;0.112)		1590					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4768C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	8.432	0.848790	0.17034	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.03272	3.99;3.99	5.45	4.37	0.52481	.	0.551176	0.21218	N	0.078193	T	0.04182	0.0116	L	0.31294	0.92	0.31865	N	0.620481	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.06789	-1.0807	10	0.39692	T	0.17	-10.1882	15.096	0.72235	0.0801:0.0:0.9199:0.0	.	1590;85	O60318;B3KT88	MCM3A_HUMAN;.	Y	1590;1590;85	ENSP00000380820:H1590Y;ENSP00000291688:H1590Y	ENSP00000291688:H1590Y	H	-	1	0	MCM3AP	46489419	0.996000	0.38824	0.984000	0.44739	0.846000	0.48090	2.460000	0.45031	2.545000	0.85829	0.655000	0.94253	CAT		0.552	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		53	262	0	0	0	1	0	53	262					A	47664991	G	A	47664991	3	1	114	1	0	0	0	0	1	0	0	0	9429	1348	47	2	1198	2	MCM3AP	21	47664991	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	112647	47664991	464904	167	37177											
HIRA	7290	broad.mit.edu	37	chr22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-													cgcagcactcttctggtccaGctgctgctgctgctgccttc							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_ENST00000541063.1_In_Frame_Del_p.Q368del|HIRA_ENST00000340170.4_In_Frame_Del_p.Q412del|HIRA_ENST00000546308.1_In_Frame_Del_p.Q368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1234-1239)ctg>c		histone cell cycle regulator																																				SO:0001651	inframe_deletion	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19373136_19373138delGCT	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.1235_1237delAGC	22.37:g.19373145_19373147delGCT	ENSP00000263208:p.Gln412del					HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del	p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			12	1491_1493	-	Colorectal(54;0.0993)		412			Poly-Gln.		Q05BU9|Q8IXN2	In_Frame_Del	DEL	ENST00000263208.5	37	c.1235_1237delAGC	CCDS13759.1																																																																																				0.581	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		7	270						7	270	---	---	---	---	-	19373138	GCT	-	19373136	7	5	114	1	0	1	0	1	0	0	0	0	7150	962	34	0	1872	0	HIRA	22	19373136	In_Frame_Del	DEL	GCT	TCGA-US-A77E-01A-11D-A32N-08		19373136	31931430	168	37178											
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-													agaagctgatgaaaaacatcAgagagagagagagtttgtaa							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		8	180						8	180	---	---	---	---	-	16850850	AG	-	16850849	7	5	114	1	0	1	0	1	0	0	0	0	16843	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-US-A77E-01A-11D-A32N-08		16850849	138419711	169	37179											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	25	0	0	2			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		4	72	1	0	2.56e-06	1	2.67309e-06	4	72					T	47030582	G	T	47030582	3	4	114	1	0	0	0	0	1	0	0	0	13161	991	35	3	367	3	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	30179733	47030582	108239978	170	37180											
KIF4A	24137	broad.mit.edu	37	chrX	69521814	69521814	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgtttggaacaggGcaacaactctaggactgtgg	12	8	1	0			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:69521814G>A	ENST00000374403.3	+	6	663	c.581G>A	c.(580-582)gGc>gAc	p.G194D	KIF4A_ENST00000374388.3_Missense_Mutation_p.G194D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	194	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGGAACAGGGCAACAACTCT	0.438																																						ENST00000374403.3																			0				breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(580-582)gGc>gAc		kinesin family member 4A							130	109	116					X																	69521814		2203	4299	6502	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69521814G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.581G>A	X.37:g.69521814G>A	ENSP00000363524:p.Gly194Asp					KIF4A_ENST00000374388.3_Missense_Mutation_p.G194D	p.G194D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN			6	663	+			194			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.581G>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645442	0.87859	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	D;D	0.83837	-1.77;-1.77	5.1	5.1	0.69264	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000051	D	0.95214	0.8448	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.97585	1.0113	10	0.87932	D	0	.	16.5735	0.84631	0.0:0.0:1.0:0.0	.	194;194	O95239;O95239-2	KIF4A_HUMAN;.	D	194	ENSP00000363509:G194D;ENSP00000363524:G194D	ENSP00000363509:G194D	G	+	2	0	KIF4A	69438539	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.316000	0.96319	2.115000	0.64714	0.538000	0.68166	GGC		0.438	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		4	220	0	0	0	1	0	4	220					A	69521814	G	A	69521814	3	1	114	1	0	0	0	0	1	0	0	0	8333	1203	42	2	599	2	KIF4A	23	69521814	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	22491232	69521814	85748746	171	37181											
MED12	9968	broad.mit.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-													cagcagcagtaccacatccgGcagcagcagcagcagcagat							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				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)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"M, S"	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6247-6252)cgg>cg		mediator complex subunit 12																																				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360680_70360682delGCA	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.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del					MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del	p.RQ2083del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6448_6450	+	Renal(35;0.156)		2080			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6249_6251delGCA	CCDS43970.1																																																																																				0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	135						7	135	---	---	---	---	-	70360682	GCA	-	70360680	7	5	114	1	0	1	0	1	0	0	0	0	9469	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-US-A77E-01A-11D-A32N-08	838866	70360680	84909880	172	37182											
ATP7A	538	broad.mit.edu	37	chrX	77244909	77244909	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cacaccagttaaatcctcagAagggtcacagcaaaggagtc	9	11	2	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:77244909A>T	ENST00000341514.6	+	4	946	c.791A>T	c.(790-792)gAa>gTa	p.E264V	ATP7A_ENST00000343533.5_Missense_Mutation_p.E264V|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	264					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAATCCTCAGAAGGGTCACAG	0.403																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(790-792)gAa>gTa		ATPase, Cu++ transporting, alpha polypeptide							162	143	149					X																	77244909		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77244909A>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"ATPases / P-type"	869	protein-coding gene	gene with protein product	"copper pump 1", "copper-transporting ATPase 1"	300011	"Menkes syndrome"	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.791A>T	X.37:g.77244909A>T	ENSP00000345728:p.Glu264Val					ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E264V	p.E264V	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			4	946	+			264					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.791A>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	A	3.798	-0.042338	0.07452	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000400860;ENST00000355691	D;D	0.96334	-3.98;-3.98	4.78	2.24	0.28232	.	0.471910	0.20943	N	0.082889	D	0.95519	0.8544	M	0.88450	2.955	0.80722	D	1	B;B	0.28783	0.002;0.222	B;B	0.35688	0.007;0.208	D	0.91217	0.5003	10	0.30078	T	0.28	-11.1068	4.7038	0.12839	0.5353:0.2948:0.1699:0.0	.	264;274	Q04656;Q59HD1	ATP7A_HUMAN;.	V	264;264;264;274	ENSP00000343026:E264V;ENSP00000345728:E264V	ENSP00000345728:E264V	E	+	2	0	ATP7A	77131565	0.959000	0.32827	0.899000	0.35326	0.225000	0.24961	1.880000	0.39628	0.694000	0.31654	0.422000	0.28245	GAA		0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		113	222	0	0	0	1	0	113	222					T	77244909	A	T	77244909	3	4	114	1	0	0	0	0	1	0	0	0	1191	246	9	5	801	5	ATP7A	23	77244909	Missense_Mutation	SNP	A	TCGA-US-A77E-01A-11D-A32N-08	6884229	77244909	78025651	173	37183											
DRP2	1821	broad.mit.edu	37	chrX	100500426	100500426	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atcccaagatgacagagttaTaccaaaccctaggtaagaat	7	9	0	4			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:100500426T>A	ENST00000395209.3	+	11	1692	c.1165T>A	c.(1165-1167)Tac>Aac	p.Y389N	DRP2_ENST00000402866.1_Missense_Mutation_p.Y389N|DRP2_ENST00000538510.1_Missense_Mutation_p.Y389N|DRP2_ENST00000541709.1_Missense_Mutation_p.Y311N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	389					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						GACAGAGTTATACCAAACCCT	0.468																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(1165-1167)Tac>Aac		dystrophin related protein 2							132	100	111					X																	100500426		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100500426T>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1165T>A	X.37:g.100500426T>A	ENSP00000378635:p.Tyr389Asn					DRP2_ENST00000402866.1_Missense_Mutation_p.Y389N|DRP2_ENST00000541709.1_Missense_Mutation_p.Y311N|DRP2_ENST00000538510.1_Missense_Mutation_p.Y389N	p.Y389N	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			11	1692	+			389					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.1165T>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854763	0.91355	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.84	5.84	0.93424	EF-hand domain, type 1 (1);	0.059046	0.64402	D	0.000001	T	0.77485	0.4137	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.80616	-0.1303	10	0.87932	D	0	-13.6727	15.1354	0.72562	0.0:0.0:0.0:1.0	.	389	Q13474	DRP2_HUMAN	N	389;389;311;389	ENSP00000385038:Y389N;ENSP00000378635:Y389N;ENSP00000444752:Y311N;ENSP00000441051:Y389N	ENSP00000378635:Y389N	Y	+	1	0	DRP2	100387082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.957000	0.56846	0.486000	0.48141	TAC		0.468	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		3	44	0	0	0	1	0	3	44					A	100500426	T	A	100500426	3	1	114	1	0	0	0	0	1	0	0	0	4780	1406	49	5	1199	5	DRP2	23	100500426	Missense_Mutation	SNP	T	TCGA-US-A77E-01A-11D-A32N-08	23255517	100500426	54770134	174	37184											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	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)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	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.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		8	309						8	309	---	---	---	---	-	149639635	GCA	-	149639633	7	5	114	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-US-A77E-01A-11D-A32N-08	49139207	149639633	5630927	175	37185											
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-US-A77E-01A-11D-A32N-08	TCGA-US-A77E-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41e7b7ba-2ad3-461e-b034-9012b11b0ac6	d4212d5b-eb9c-4720-a339-23763029e0e2	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	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)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128	97	107					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	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)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		6	231	0	0	0	1	0	6	231					A	153134383	G	A	153134383	3	1	114	1	0	0	0	0	1	0	0	0	8619	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-US-A77E-01A-11D-A32N-08	3494750	153134383	2136177	176	37186											
ACOT7	11332	broad.mit.edu	37	chr1	6409894	6409894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccccccgtggacattgCcggccacgttggcatcatct	11	15	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:6409894C>T	ENST00000377855.2	-	2	352	c.206G>A	c.(205-207)gGc>gAc	p.G69D	ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D|ACOT7_ENST00000608083.1_Missense_Mutation_p.G27D|ACOT7_ENST00000361521.4_Missense_Mutation_p.G59D|ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D|ACOT7_ENST00000545482.1_Intron	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	69	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		GTGGACATTGCCGGCCACGTT	0.592																																					GBM(74;673 1226 4974 11850 13190)	ENST00000361521.4																			0				kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16						c.(175-177)gGc>gAc		acyl-CoA thioesterase 7							63	53	57					1																	6409894		2203	4300	6503	SO:0001583	missense	11332					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	g.chr1:6409894C>T	AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.206G>A	1.37:g.6409894C>T	ENSP00000367086:p.Gly69Asp					ACOT7_ENST00000545482.1_Intron|ACOT7_ENST00000377855.2_Missense_Mutation_p.G69D|ACOT7_ENST00000377842.3_Missense_Mutation_p.G18D|ACOT7_ENST00000377845.3_Missense_Mutation_p.G39D|ACOT7_ENST00000541130.1_Missense_Mutation_p.G39D	p.G59D	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)	2	1167	-	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)	69			Acyl coenzyme A hydrolase 1.		A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	ENST00000377855.2	37	c.176G>A	CCDS65.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993767	0.93167	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	4.48	4.48	0.54585	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.75085	2.285	0.53688	D	0.999974	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.991;1.0;0.987	T	0.72327	-0.4327	10	0.72032	D	0.01	.	14.7432	0.69472	0.0:1.0:0.0:0.0	.	59;69;39;18	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	D	69;39;18;59;39	ENSP00000367086:G69D;ENSP00000367076:G39D;ENSP00000367073:G18D;ENSP00000354615:G59D;ENSP00000441872:G39D	ENSP00000354615:G59D	G	-	2	0	ACOT7	6332481	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	7.065000	0.76727	2.349000	0.79799	0.650000	0.86243	GGC		0.592	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003773.1	NM_007274		5	259	0	0	0	1	0	5	259					T	6409894	C	T	6409894	3	4	115	1	0	0	0	0	1	0	0	0	155	739	26	2	968	2	ACOT7	1	6409894	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		6409894	242840727	1	37187											
PADI3	51702	broad.mit.edu	37	chr1	17593248	17593248	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcccagtgggtatggcgGcatcttgctggtgaactgtg	18	8	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:17593248G>A	ENST00000375460.3	+	5	483	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	148					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)	GGGTATGGCGGCATCTTGCTG	0.597																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(442-444)gGc>gAc		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						168	136	147					1																	17593248		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17593248G>A	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.443G>A	1.37:g.17593248G>A	ENSP00000364609:p.Gly148Asp						p.G148D	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	5	483	+		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)	148					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.443G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359635	0.61403	.	.	ENSG00000142619	ENST00000375460	T	0.14266	2.52	5.15	4.23	0.50019	Protein-arginine deiminase (PAD), central domain (2);	0.052990	0.85682	D	0.000000	T	0.10423	0.0255	N	0.08118	0	0.38404	D	0.945756	P	0.38335	0.627	B	0.42112	0.376	T	0.27226	-1.0080	10	0.87932	D	0	-23.3232	14.4617	0.67453	0.0:0.8491:0.1509:0.0	.	148	Q9ULW8	PADI3_HUMAN	D	148	ENSP00000364609:G148D	ENSP00000364609:G148D	G	+	2	0	PADI3	17465835	1.000000	0.71417	0.661000	0.29709	0.848000	0.48234	5.229000	0.65316	1.169000	0.42739	-0.270000	0.10280	GGC		0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			5	475	0	0	0	1	0	5	475					A	17593248	G	A	17593248	3	1	115	1	0	0	0	0	1	0	0	0	11421	1203	42	2	461	2	PADI3	1	17593248	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	11183354	17593248	231657373	2	37188											
EIF2C1	26523	broad.mit.edu	37	chr1	36359375	36359375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcggctttcaccagtctgtgCgccctgccatgtggaagatg	12	12	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:36359375C>T	ENST00000373204.4	+	5	826	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	AGO1_ENST00000373206.1_Missense_Mutation_p.R130C	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	205					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCAGTCTGTGCGCCCTGCCAT	0.622																																						ENST00000373204.4																			0											c.(613-615)Cgc>Tgc		argonaute RISC catalytic component 1							70	68	69					1																	36359375		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36359375C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.613C>T	1.37:g.36359375C>T	ENSP00000362300:p.Arg205Cys					AGO1_ENST00000373206.1_Missense_Mutation_p.R130C	p.R205C	NM_012199.2	NP_036331.1					5	826	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.613C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729555	0.69074	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.15487	2.42;2.52	5.93	5.93	0.95920	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67643	-0.5618	10	0.87932	D	0	-19.1719	15.6785	0.77349	0.1985:0.8015:0.0:0.0	.	205	Q9UL18	AGO1_HUMAN	C	130;205	ENSP00000362302:R130C;ENSP00000362300:R205C	ENSP00000362300:R205C	R	+	1	0	EIF2C1	36131962	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.086000	0.41643	2.818000	0.97014	0.591000	0.81541	CGC		0.622	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			5	330	0	0	0	1	0	5	330					T	36359375	C	T	36359375	3	4	115	1	0	0	0	0	1	0	0	0	5021	768	27	1	631	1	EIF2C1	1	36359375	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	18766127	36359375	212891246	3	37189											
UQCRH	7388	broad.mit.edu	37	chr1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagagctctgtgatgagcGtgtatcctctcgatcacata	10	10	3	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:46775912G>A	ENST00000311672.5	+	3	303	c.167G>A	c.(166-168)cGt>cAt	p.R56H		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	56					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|protein heterooligomerization (GO:0051291)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512																																						ENST00000311672.5																			0				large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4						c.(166-168)cGt>cAt		ubiquinol-cytochrome c reductase hinge protein							108	109	109					1																	46775912		2203	4300	6503	SO:0001583	missense	7388				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity	g.chr1:46775912G>A	BC001934	CCDS30704.1	1p34.1	2011-07-04			ENSG00000173660	ENSG00000173660	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12590	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VIII"	613844				2826252	Standard	XM_005271167		Approved	QCR6, UQCR8	uc001cpp.3	P07919	OTTHUMG00000007813	ENST00000311672.5:c.167G>A	1.37:g.46775912G>A	ENSP00000309565:p.Arg56His						p.R56H	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN			3	303	+	Acute lymphoblastic leukemia(166;0.155)		56					B2R4V9|D3DQ18|Q5TDF6|Q6LDB8|Q9BQ91	Missense_Mutation	SNP	ENST00000311672.5	37	c.167G>A	CCDS30704.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114117	0.77210	.	.	ENSG00000173660	ENST00000311672	D	0.81499	-1.5	5.23	5.23	0.72850	Ubiquinol-cytochrome C reductase hinge domain (3);	0.044681	0.85682	N	0.000000	T	0.77731	0.4174	.	.	.	0.80722	D	1	B	0.29378	0.243	B	0.28305	0.088	T	0.76764	-0.2839	9	0.62326	D	0.03	-12.2206	19.0053	0.92848	0.0:0.0:1.0:0.0	.	56	P07919	QCR6_HUMAN	H	56	ENSP00000309565:R56H	ENSP00000309565:R56H	R	+	2	0	UQCRH	46548499	1.000000	0.71417	0.957000	0.39632	0.980000	0.70556	9.109000	0.94291	2.728000	0.93425	0.655000	0.94253	CGT		0.512	UQCRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021451.1	NM_006004		6	554	0	0	0	1	0	6	554					A	46775912	G	A	46775912	3	1	115	1	0	0	0	0	1	0	0	0	17076	1145	40	1	177	1	UQCRH	1	46775912	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	10416537	46775912	202474709	4	37190											
FOXD3	27022	broad.mit.edu	37	chr1	63789349	63789349	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caagatcccccgcgagccggGcaacccgggcaagggcaact	13	16	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:63789349G>A	ENST00000371116.2	+	1	620	c.620G>A	c.(619-621)gGc>gAc	p.G207D	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	207				GNPG -> ATRP (in Ref. 3; AAK13574). {ECO:0000305}.	embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CGCGAGCCGGGCAACCCGGGC	0.637																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2																			0				breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(619-621)gGc>gAc		forkhead box D3							86	100	95					1																	63789349		2203	4300	6503	SO:0001583	missense	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63789349G>A	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.620G>A	1.37:g.63789349G>A	ENSP00000360157:p.Gly207Asp					RP4-792G4.2_ENST00000427268.1_RNA	p.G207D	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN			1	620	+			207	GNPG -> ATRP (in Ref. 3; AAK13574).				Q9BYM2|Q9UDD1	Missense_Mutation	SNP	ENST00000371116.2	37	c.620G>A	CCDS624.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603105	0.66445	.	.	ENSG00000187140	ENST00000371116	D	0.95377	-3.69	2.6	2.6	0.31112	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	U	0.000000	D	0.92541	0.7631	L	0.33245	0.995	0.80722	D	1	P	0.36616	0.561	P	0.55161	0.77	D	0.89842	0.4003	10	0.11485	T	0.65	.	13.9222	0.63940	0.0:0.0:1.0:0.0	.	207	Q9UJU5	FOXD3_HUMAN	D	207	ENSP00000360157:G207D	ENSP00000360157:G207D	G	+	2	0	FOXD3	63561937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.101000	0.50283	1.759000	0.51996	0.460000	0.39030	GGC		0.637	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			6	804	0	0	0	1	0	6	804					A	63789349	G	A	63789349	3	1	115	1	0	0	0	0	1	0	0	0	6023	1203	42	2	622	2	FOXD3	1	63789349	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	17013437	63789349	185461272	5	37191											
ANKRD34A	284615	broad.mit.edu	37	chr1	145474624	145474624	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctcaacgtcagtccCcaccctcccatccctgacat	3	23	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:145474624C>A	ENST00000323397.4	+	4	2589	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	432	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGTCAGTCCCCACCCTCCCA	0.687																																						ENST00000323397.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1294-1296)ccC>ccA		ankyrin repeat domain 34A							26	23	24					1																	145474624		2202	4290	6492	SO:0001819	synonymous_variant	284615							g.chr1:145474624C>A	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"Ankyrin repeat domain containing"	27639	protein-coding gene	gene with protein product			"ankyrin repeat domain 34"	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1296C>A	1.37:g.145474624C>A							p.P432P	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN			4	2589	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		432			Pro-rich.		B3KSU3	Silent	SNP	ENST00000323397.4	37	c.1296C>A	CCDS30829.1																																																																																				0.687	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			4	207	1	0	0.150653	1	0.152891	4	207					A	145474624	C	A	145474624	2	1	115	1	0	0	0	0	0	0	0	1	662	610	22	3		3	ANKRD34A	1	145474624	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	81685275	145474624	103775997	6	37192											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530550	150530550	+	Frame_Shift_Del	DEL	C	C	-													ccggagcgctgtggacatctCccccggcccaacatcaccca							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:150530550delC	ENST00000369038.2	+	12	2508	c.2307delC	c.(2305-2307)ctcfs	p.L769fs	ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.L769fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.L792fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Frame_Shift_Del_p.L769fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	769	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGGACATCTCCCCCGGCCCA	0.682																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(2305-2307)ctfs		ADAMTS-like 4							75	78	77					1																	150530550		2203	4300	6503	SO:0001589	frameshift_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530550delC	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.2307delC	1.37:g.150530550delC	ENSP00000358034:p.Leu769fs					ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.L769fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.L792fs|ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.L769fs	p.L769fs	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2543	+	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)		769			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Del	DEL	ENST00000369038.2	37	c.2307delC	CCDS955.1																																																																																				0.682	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		7	1479						7	1479	---	---	---	---	-	150530550	C	-	150530550	7	5	115	1	0	1	0	1	0	0	0	0	277	842	30	0	2353	0	ADAMTSL4	1	150530550	Frame_Shift_Del	DEL	C	TCGA-US-A77G-01A-11D-A32N-08	5055926	150530550	98720071	7	37193											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	14	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33	42	39					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	437	0	0	0	1	0	6	437					T	153907309	C	T	153907309	2	4	115	1	0	0	0	0	0	0	0	1	4450	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	3376759	153907309	95343312	8	37194											
SPTA1	6708	broad.mit.edu	37	chr1	158605758	158605758	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacaaactgagccagccGcaactggatctcctcttgcc	7	15	3	1	rs375618954		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:158605758G>A	ENST00000368147.4	-	38	5557	c.5377C>T	c.(5377-5379)Cgg>Tgg	p.R1793W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1793					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)					TGAGCCAGCCGCAACTGGATC	0.522																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5377-5379)Cgg>Tgg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	TRP/ARG	0,3960		0,0,1980	116	123	121		5377	3.6	1	1		121	1,8319		0,1,4159	no	missense	SPTA1	NM_003126.2	101	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	1793/2420	158605758	1,12279	1980	4160	6140	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605758G>A	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.5377C>T	1.37:g.158605758G>A	ENSP00000357129:p.Arg1793Trp					SPTA1_ENST00000368147.3_Missense_Mutation_p.R1793W	p.R1793W	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			38	5557	-	all_hematologic(112;0.0378)		1793					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5377C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033837	0.54896	0.0	1.2E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56444	0.46;0.46	5.65	3.62	0.41486	.	0.000000	0.29266	N	0.012655	T	0.70736	0.3258	M	0.89840	3.065	0.50467	D	0.999872	D	0.89917	1.0	D	0.97110	1.0	T	0.78663	-0.2116	10	0.87932	D	0	.	13.3664	0.60687	0.0:0.0:0.6481:0.3519	.	1793	P02549	SPTA1_HUMAN	W	1793	ENSP00000357130:R1793W;ENSP00000357129:R1793W	ENSP00000357129:R1793W	R	-	1	2	SPTA1	156872382	1.000000	0.71417	0.987000	0.45799	0.205000	0.24178	2.658000	0.46733	1.575000	0.49775	0.655000	0.94253	CGG		0.522	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	882	0	0	0	1	0	6	882					A	158605758	G	A	158605758	3	1	115	1	0	0	0	0	1	0	0	0	15168	1086	38	1	1942	1	SPTA1	1	158605758	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	4698449	158605758	90644863	9	37195											
APOBEC4	403314	broad.mit.edu	37	chr1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-													gtagattttatttcttccctTtcttcttcttcttttcatct					rs141411396		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000304685.3_Intron	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		11	657						11	657	---	---	---	---	-	183616828	TTC	-	183616826	7	5	115	1	0	1	0	1	0	0	0	0	796	1841	64	0	16	0	APOBEC4	1	183616826	In_Frame_Del	DEL	TTC	TCGA-US-A77G-01A-11D-A32N-08	25011068	183616826	65633795	10	37196											
TRIM67	440730	broad.mit.edu	37	chr1	231339743	231339743	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggagctggacgacggtgcCgggggacagttccgggtgag	20	9	0	1	rs368294541		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:231339743C>T	ENST00000366653.5	+	6	1665	c.1665C>T	c.(1663-1665)gcC>gcT	p.A555A	TRIM67_ENST00000444294.3_Silent_p.A553A|TRIM67_ENST00000449018.3_Silent_p.A493A|TRIM67_ENST00000366652.2_Silent_p.A555A			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	555	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				ACGACGGTGCCGGGGGACAGT	0.627																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1657-1659)gcC>gcT		tripartite motif containing 67							52	67	62					1																	231339743		2036	4178	6214	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339743C>T	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1665C>T	1.37:g.231339743C>T						TRIM67_ENST00000366653.5_Silent_p.A555A|TRIM67_ENST00000366652.2_Silent_p.A555A|TRIM67_ENST00000449018.3_Silent_p.A493A	p.A553A	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2517	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	555			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1659C>T	CCDS44333.1																																																																																				0.627	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		32	241	0	0	0	1	0	32	241					T	231339743	C	T	231339743	2	4	115	1	0	0	0	0	0	0	0	1	16593	639	23	1		1	TRIM67	1	231339743	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	47722917	231339743	17910878	11	37197											
OR2T12	127064	broad.mit.edu	37	chr1	248458256	248458256	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacaggatgagggaaaAggggaccaggagcattaaca	17	5	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr1:248458256A>G	ENST00000317996.1	-	1	624	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F209L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATGAGGGAAAAGGGGACCAGG	0.547																																						ENST00000317996.1																			1	Substitution - Missense(1)	p.F209L(1)	prostate(1)	endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(625-627)Ttt>Ctt		olfactory receptor, family 2, subfamily T, member 12							49	43	45					1																	248458256		2202	4282	6484	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458256A>G	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.625T>C	1.37:g.248458256A>G	ENSP00000324583:p.Phe209Leu						p.F209L	NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	624	-	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)		209						Missense_Mutation	SNP	ENST00000317996.1	37	c.625T>C	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	0.425	-0.906199	0.02453	.	.	ENSG00000177201	ENST00000317996	T	0.32988	1.43	1.55	-0.261	0.12963	GPCR, rhodopsin-like superfamily (1);	0.858771	0.09453	N	0.800195	T	0.14960	0.0361	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29397	-1.0013	10	0.25751	T	0.34	.	6.739	0.23424	0.772:0.0:0.0:0.228	.	209	Q8NG77	O2T12_HUMAN	L	209	ENSP00000324583:F209L	ENSP00000324583:F209L	F	-	1	0	OR2T12	246524879	0.000000	0.05858	0.023000	0.16930	0.191000	0.23601	-1.313000	0.02718	0.540000	0.28808	0.147000	0.16070	TTT		0.547	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		5	440	0	0	0	1	0	5	440					G	248458256	A	G	248458256	3	3	115	1	0	0	0	0	1	0	0	0	11061	72	3	4	340	4	OR2T12	1	248458256	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	17118513	248458256	792365	12	37198											
DNMT3A	1788	broad.mit.edu	37	chr2	25471001	25471001	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagccacagtgggggatgCggggtcagtgggctgctgca	20	8	1	0	rs201097136		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:25471001C>T	ENST00000264709.3	-	7	1097	c.760G>A	c.(760-762)Gca>Aca	p.A254T	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	254	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGGGATGCGGGGTCAGTG	0.627			"Mis, F, N, S"		AML								C|||	1	0.000199681	0.0	0.0	5008	,	,		15713	0.0		0.001	False		,,,				2504	0.0					ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(760-762)Gca>Aca		DNA (cytosine-5-)-methyltransferase 3 alpha							62	65	64					2																	25471001		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25471001C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.760G>A	2.37:g.25471001C>T	ENSP00000264709:p.Ala254Thr					DNMT3A_ENST00000402667.1_Missense_Mutation_p.A31T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A254T|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A65T	p.A254T	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			7	1097	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		254			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.760G>A	CCDS33157.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.5	4.928743	0.92389	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.93366	-3.21;-3.2;-3.2;-3.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	N	0.24115	0.695	0.80722	D	1	P;D	0.61080	0.846;0.989	B;P	0.46917	0.071;0.531	D	0.89436	0.3720	10	0.31617	T	0.26	-4.9539	18.2356	0.89948	0.0:1.0:0.0:0.0	.	254;65	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	T	65;254;254;31	ENSP00000370122:A65T;ENSP00000324375:A254T;ENSP00000264709:A254T;ENSP00000384237:A31T	ENSP00000264709:A254T	A	-	1	0	DNMT3A	25324505	1.000000	0.71417	0.319000	0.25293	0.901000	0.52897	7.054000	0.76649	2.653000	0.90120	0.563000	0.77884	GCA		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	503	0	0	0	1	0	8	503					T	25471001	C	T	25471001	3	4	115	1	0	0	0	0	1	0	0	0	4692	768	27	1	2046	1	DNMT3A	2	25471001	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		25471001	217728372	13	37199											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	730						7	730	---	---	---	---	-	64778674	GAT	-	64778672	7	5	115	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-US-A77G-01A-11D-A32N-08	39307671	64778672	178420701	14	37200											
ASPRV1	151516	broad.mit.edu	37	chr2	70187919	70187919	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctttcagggtgcatgtgCggtgctcaaagtccaggata	12	10	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:70187919C>T	ENST00000320256.4	-	1	1478	c.902G>A	c.(901-903)cGc>cAc	p.R301H	PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTGCATGTGCGGTGCTCAAA	0.557																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(901-903)cGc>cAc		aspartic peptidase, retroviral-like 1							175	162	166					2																	70187919		2203	4300	6503	SO:0001583	missense	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70187919C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.902G>A	2.37:g.70187919C>T	ENSP00000315383:p.Arg301His						p.R301H	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1478	-			301						Missense_Mutation	SNP	ENST00000320256.4	37	c.902G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418130	0.83449	.	.	ENSG00000244617	ENST00000320256	T	0.51071	0.72	5.38	5.38	0.77491	.	0.000000	0.43110	D	0.000601	T	0.55130	0.1901	N	0.24115	0.695	0.38945	D	0.958225	D	0.89917	1.0	D	0.83275	0.996	T	0.60500	-0.7251	10	0.59425	D	0.04	-16.4374	14.6246	0.68611	0.0:1.0:0.0:0.0	.	301	Q53RT3	APRV1_HUMAN	H	301	ENSP00000315383:R301H	ENSP00000315383:R301H	R	-	2	0	ASPRV1	70041423	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.858000	0.55979	2.530000	0.85305	0.655000	0.94253	CGC		0.557	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		8	830	0	0	0	1	0	8	830					T	70187919	C	T	70187919	3	4	115	1	0	0	0	0	1	0	0	0	1059	768	27	1	133	1	ASPRV1	2	70187919	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	5409247	70187919	173011454	15	37201											
IL1R2	7850	broad.mit.edu	37	chr2	102638648	102638649	+	Splice_Site	INS	-	-	A													tttccttacatctttctcagINSaaaaaaaagaagagaccatt							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						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						ATCTTTCTCAGAAAAAAAAGAA	0.441																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.e6-1		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001630	splice_region_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638648_102638649insA	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.689-1->A	2.37:g.102638656_102638656dupA						IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site		NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	917_918	+								D3DVJ5|Q6LCE6|Q9UE68	Splice_Site	INS	ENST00000332549.3	37		CCDS2054.1																																																																																				0.441	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	Intron	7	769						7	769	---	---	---	---	A	102638649	-	A	102638648	8	5	115	1	0	1	1	0	0	0	1	0	7689	956	33	0	706	0	IL1R2	2	102638648	Splice_Site	INS	-	TCGA-US-A77G-01A-11D-A32N-08	32450729	102638648	140560725	16	37202											
IL18RAP	8807	broad.mit.edu	37	chr2	103068507	103068507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctaggttctgggccaaaatgCgctaccacatgcctgtgaaa	10	11	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:103068507C>T	ENST00000264260.2	+	12	2255	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R414C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	556	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						GGCCAAAATGCGCTACCACAT	0.453																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1666-1668)Cgc>Tgc		interleukin 18 receptor accessory protein							138	149	145					2																	103068507		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068507C>T	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.1666C>T	2.37:g.103068507C>T	ENSP00000264260:p.Arg556Cys					IL18RAP_ENST00000409369.1_Missense_Mutation_p.R414C	p.R556C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2255	+			556			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1666C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516146	0.27123	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.10668	2.85;2.85	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.425883	0.25004	N	0.033896	T	0.19644	0.0472	M	0.87097	2.86	0.42033	D	0.991036	B	0.34255	0.445	B	0.30029	0.11	T	0.01416	-1.1360	10	0.56958	D	0.05	.	14.657	0.68841	0.0:0.9312:0.0:0.0688	.	556	O95256	I18RA_HUMAN	C	556;414	ENSP00000264260:R556C;ENSP00000387201:R414C	ENSP00000264260:R556C	R	+	1	0	IL18RAP	102434939	0.000000	0.05858	0.506000	0.27664	0.084000	0.17831	0.264000	0.18497	2.857000	0.98124	0.650000	0.86243	CGC		0.453	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		8	759	0	0	0	1	0	8	759					T	103068507	C	T	103068507	3	4	115	1	0	0	0	0	1	0	0	0	7678	768	27	1	1704	1	IL18RAP	2	103068507	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	429859	103068507	140130866	17	37203											
ATG9A	79065	broad.mit.edu	37	chr2	220089227	220089227	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgatgccaatccacaggatgCggttgctgaggcgctgggcc	15	12	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220089227C>T	ENST00000409618.1	-	8	1305	c.866G>A	c.(865-867)cGc>cAc	p.R289H	ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H|ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	289					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACAGGATGCGGTTGCTGAG	0.567																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(865-867)cGc>cAc		autophagy related 9A							35	43	40					2																	220089227		2073	4194	6267	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089227C>T	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.866G>A	2.37:g.220089227C>T	ENSP00000386710:p.Arg289His					ATG9A_ENST00000361242.4_Missense_Mutation_p.R289H|ATG9A_ENST00000396761.2_Missense_Mutation_p.R289H|ATG9A_ENST00000409422.1_Missense_Mutation_p.R228H	p.R289H			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	8	1305	-		Renal(207;0.0474)	289					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.866G>A	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749084	0.49257	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422	T;T;T;T	0.39592	1.51;1.51;1.51;1.07	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.46885	1.475	0.50632	D	0.999889	D	0.89917	1.0	D	0.68353	0.957	T	0.55915	-0.8065	10	0.42905	T	0.14	.	18.9912	0.92793	0.0:1.0:0.0:0.0	.	289	Q7Z3C6	ATG9A_HUMAN	H	289;289;289;228	ENSP00000379983:R289H;ENSP00000386710:R289H;ENSP00000355173:R289H;ENSP00000386535:R228H	ENSP00000355173:R289H	R	-	2	0	ATG9A	219797471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.953000	0.70290	2.481000	0.83766	0.655000	0.94253	CGC		0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		32	118	0	0	0	1	0	32	118					T	220089227	C	T	220089227	3	4	115	1	0	0	0	0	1	0	0	0	1103	768	27	1	1689	1	ATG9A	2	220089227	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	117020720	220089227	23110146	18	37204											
GMPPA	29926	broad.mit.edu	37	chr2	220366590	220366590	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caggtacctgcaggaatttgCccccctaggcacagggggtg	14	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:220366590C>T	ENST00000358215.3	+	5	629	c.260C>T	c.(259-261)gCc>gTc	p.A87V	GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V|GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V|GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	87					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CAGGAATTTGCCCCCCTAGGC	0.592																																						ENST00000358215.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(259-261)gCc>gTc		GDP-mannose pyrophosphorylase A							74	70	71					2																	220366590		2203	4300	6503	SO:0001583	missense	29926				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr2:220366590C>T	AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.260C>T	2.37:g.220366590C>T	ENSP00000350949:p.Ala87Val					GMPPA_ENST00000313597.5_Missense_Mutation_p.A87V|GMPPA_ENST00000341142.3_Missense_Mutation_p.A87V|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.A87V|GMPPA_ENST00000373908.1_Missense_Mutation_p.A87V	p.A87V	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)	5	629	+		Renal(207;0.0183)	87					A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	ENST00000358215.3	37	c.260C>T	CCDS2441.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284479	0.59867	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000435316;ENST00000341142	D;D;D;D;T;T;D	0.93906	-3.31;-3.31;-3.31;-3.31;-0.7;-0.7;-3.31	4.68	3.8	0.43715	Nucleotidyl transferase (1);	0.270854	0.34338	N	0.004044	D	0.88548	0.6466	L	0.33093	0.98	0.40974	D	0.984729	B;P	0.37276	0.001;0.589	B;B	0.35727	0.008;0.209	D	0.87535	0.2455	10	0.54805	T	0.06	-29.327	12.5741	0.56354	0.0:0.9176:0.0:0.0824	.	87;87	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	V	87;87;87;87;87;52;87	ENSP00000315925:A87V;ENSP00000363027:A87V;ENSP00000350949:A87V;ENSP00000363016:A87V;ENSP00000392465:A87V;ENSP00000411060:A52V;ENSP00000340760:A87V	ENSP00000315925:A87V	A	+	2	0	GMPPA	220074834	1.000000	0.71417	0.984000	0.44739	0.993000	0.82548	5.950000	0.70265	0.967000	0.38186	0.561000	0.74099	GCC		0.592	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130230.1	NM_013335		6	381	0	0	0	1	0	6	381					T	220366590	C	T	220366590	3	4	115	1	0	0	0	0	1	0	0	0	6523	739	26	2	274	2	GMPPA	2	220366590	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	277363	220366590	22832783	19	37205											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		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.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		12	361						12	361	---	---	---	---	-	227660810	GCT	-	227660808	7	5	115	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-US-A77G-01A-11D-A32N-08	7294218	227660808	15538565	20	37206											
EFHD1	80303	broad.mit.edu	37	chr2	233546356	233546356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctgagcaagatgagcGgaagcgggaggaggaggaga	20	4	0	4			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr2:233546356G>A	ENST00000264059.3	+	4	1124	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q|snoU13_ENST00000459149.1_RNA|EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	216					neuron projection development (GO:0031175)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		CAAGATGAGCGGAAGCGGGAG	0.542																																						ENST00000264059.3																			0				NS(1)|breast(1)|large_intestine(2)|lung(3)	7						c.(646-648)cGg>cAg		EF-hand domain family, member D1							108	98	101					2																	233546356		2203	4300	6503	SO:0001583	missense	80303						calcium ion binding|protein binding	g.chr2:233546356G>A		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.647G>A	2.37:g.233546356G>A	ENSP00000264059:p.Arg216Gln					EFHD1_ENST00000409613.1_Missense_Mutation_p.R120Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.R104Q|EFHD1_ENST00000409708.1_Missense_Mutation_p.R104Q	p.R216Q	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)	4	1124	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)	216					B2RD83|E9PFH3|Q9BTF8|Q9H8I2|Q9HBQ0	Missense_Mutation	SNP	ENST00000264059.3	37	c.647G>A	CCDS2497.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827702	0.90955	.	.	ENSG00000115468	ENST00000409613;ENST00000264059;ENST00000540187;ENST00000409708;ENST00000410095	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.65	3.7	0.42460	.	0.332624	0.29715	N	0.011387	T	0.37376	0.1001	L	0.58302	1.8	0.58432	D	0.999998	P;P	0.44006	0.824;0.824	B;B	0.38156	0.121;0.266	T	0.34104	-0.9842	10	0.52906	T	0.07	-5.5142	11.0327	0.47783	0.0:0.14:0.7149:0.1451	.	120;216	E9PFH3;Q9BUP0	.;EFHD1_HUMAN	Q	120;216;119;104;104	ENSP00000386556:R120Q;ENSP00000264059:R216Q;ENSP00000386243:R104Q;ENSP00000386685:R104Q	ENSP00000264059:R216Q	R	+	2	0	EFHD1	233254600	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.562000	0.36353	1.362000	0.46000	0.586000	0.80456	CGG		0.542	EFHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257040.2	NM_025202		5	554	0	0	0	1	0	5	554					A	233546356	G	A	233546356	3	1	115	1	0	0	0	0	1	0	0	0	4964	1116	39	1	661	1	EFHD1	2	233546356	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5885548	233546356	9653017	21	37207											
ATP2B2	491	broad.mit.edu	37	chr3	10417285	10417285	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgaaggtgtccacagtgaaGtagagcaccaggatgatcac	12	9	1	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:10417285G>A	ENST00000352432.4	-	10	1314	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000397077.1_Silent_p.Y370Y|ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000343816.4_Silent_p.Y401Y			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	415					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						CCACAGTGAAGTAGAGCACCA	0.557																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(1108-1110)taC>taT		ATPase, Ca++ transporting, plasma membrane 2							76	63	67					3																	10417285		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10417285G>A	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.1245C>T	3.37:g.10417285G>A						ATP2B2_ENST00000360273.2_Silent_p.Y415Y|ATP2B2_ENST00000383800.4_Silent_p.Y370Y|ATP2B2_ENST00000352432.4_Silent_p.Y415Y|ATP2B2_ENST00000343816.4_Silent_p.Y401Y	p.Y370Y			Q01814	AT2B2_HUMAN			10	1685	-			415					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1110C>T	CCDS33701.1																																																																																				0.557	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		54	173	0	0	0	1	0	54	173					A	10417285	G	A	10417285	2	1	115	1	0	0	0	0	0	0	0	1	1141	1024	36	2		2	ATP2B2	3	10417285	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		10417285	187605145	22	37208											
OXNAD1	92106	broad.mit.edu	37	chr3	16312479	16312479	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	catggcctgtgctgctgttaTgattcctgggttgttgcggt	14	8	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:16312479T>G	ENST00000285083.5	+	3	485	c.20T>G	c.(19-21)aTg>aGg	p.M7R	OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R|OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	7						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GCTGCTGTTATGATTCCTGGG	0.458																																						ENST00000285083.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						c.(19-21)aTg>aGg		oxidoreductase NAD-binding domain containing 1							201	188	193					3																	16312479		2203	4300	6503	SO:0001583	missense	92106						oxidoreductase activity	g.chr3:16312479T>G	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.20T>G	3.37:g.16312479T>G	ENSP00000285083:p.Met7Arg					OXNAD1_ENST00000605932.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000606098.1_Missense_Mutation_p.M7R|OXNAD1_ENST00000544043.1_Missense_Mutation_p.M25R|OXNAD1_ENST00000435829.2_Missense_Mutation_p.M25R	p.M7R	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN			3	485	+			7					Q2HYC7|Q59FA4	Missense_Mutation	SNP	ENST00000285083.5	37	c.20T>G	CCDS2630.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.366861	0.24771	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.22134	2.29;1.97;2.25	5.07	2.62	0.31277	.	1.342610	0.04581	N	0.394909	T	0.21590	0.0520	L	0.36672	1.1	0.09310	N	1	B;B	0.22683	0.073;0.044	B;B	0.25405	0.06;0.027	T	0.36456	-0.9747	10	0.72032	D	0.01	-16.2189	9.2363	0.37468	0.0:0.0:0.3581:0.6419	.	25;7	F5H620;Q96HP4	.;OXND1_HUMAN	R	7;7;25	ENSP00000285083:M7R;ENSP00000389872:M7R;ENSP00000437967:M25R	ENSP00000285083:M7R	M	+	2	0	OXNAD1	16287483	0.009000	0.17119	0.002000	0.10522	0.181000	0.23173	0.823000	0.27366	0.377000	0.24735	-0.313000	0.08912	ATG		0.458	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		155	586	0	0	0	1	0	155	586					G	16312479	T	G	16312479	3	3	115	1	0	0	0	0	1	0	0	0	11375	1464	51	4	22	4	OXNAD1	3	16312479	Missense_Mutation	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	5895194	16312479	181709951	23	37209											
SCN5A	6331	broad.mit.edu	37	chr3	38639417	38639417	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggtagcgctgggcgagacGgttccagcatggtggacact	16	10	0	1	rs199473580		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:38639417G>A	ENST00000333535.4	-	14	2214	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C	SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	689					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)	TGGGCGAGACGGTTCCAGCAT	0.532																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(2065-2067)Cgt>Tgt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						115	120	119					3																	38639417		2133	4234	6367	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38639417G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2065C>T	3.37:g.38639417G>A	ENSP00000328968:p.Arg689Cys					SCN5A_ENST00000425664.1_Missense_Mutation_p.R689C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R689C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R689C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R689C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R689C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R689C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R689C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R689C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R689C	p.R689C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	14	2258	-	Medulloblastoma(35;0.163)		689					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2065C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304276	0.40795	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96300	-3.88;-3.91;-3.91;-3.91;-3.91;-3.88;-3.91;-3.97;-3.91;-3.91	4.9	4.9	0.64082	.	1.137170	0.06183	N	0.679836	D	0.97785	0.9273	M	0.80183	2.485	0.44603	D	0.997576	D;D;D;D;D;D;D	0.71674	0.978;0.991;0.987;0.978;0.978;0.998;0.987	B;B;P;B;B;P;P	0.52710	0.328;0.328;0.528;0.328;0.328;0.707;0.528	D	0.94661	0.7848	10	0.87932	D	0	.	18.2549	0.90016	0.0:0.0:1.0:0.0	.	689;689;689;689;689;689;689	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	C	689	ENSP00000398962:R689C;ENSP00000398266:R689C;ENSP00000410257:R689C;ENSP00000388797:R689C;ENSP00000397915:R689C;ENSP00000416634:R689C;ENSP00000328968:R689C;ENSP00000399524:R689C;ENSP00000403355:R689C;ENSP00000413996:R689C	ENSP00000328968:R689C	R	-	1	0	SCN5A	38614421	0.134000	0.22483	0.982000	0.44146	0.405000	0.30901	1.004000	0.29822	2.563000	0.86464	0.491000	0.48974	CGT		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		67	317	0	0	0	1	0	67	317					A	38639417	G	A	38639417	3	1	115	1	0	0	0	0	1	0	0	0	13972	1116	39	1	4045	1	SCN5A	3	38639417	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	22326938	38639417	159383013	24	37210											
PTPN23	25930	broad.mit.edu	37	chr3	47452686	47452686	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccagcatggcggcactcagtCtcctgggggtgggcagcccc	15	15	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:47452686C>T	ENST00000265562.4	+	20	3475	c.3398C>T	c.(3397-3399)tCt>tTt	p.S1133F	PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1133					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)		GGCACTCAGTCTCCTGGGGGT	0.711																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(3397-3399)tCt>tTt		protein tyrosine phosphatase, non-receptor type 23							7	9	8					3																	47452686		2134	4220	6354	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452686C>T	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.3398C>T	3.37:g.47452686C>T	ENSP00000265562:p.Ser1133Phe					PTPN23_ENST00000431726.1_Missense_Mutation_p.S1007F	p.S1133F	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	3475	+			1133					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.3398C>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109780	0.37242	.	.	ENSG00000076201	ENST00000265562	T	0.02631	4.22	5.3	4.37	0.52481	.	0.135690	0.49916	D	0.000126	T	0.02083	0.0065	N	0.08118	0	0.22701	N	0.998834	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.48736	-0.9009	10	0.33141	T	0.24	-6.0248	14.322	0.66491	0.0:0.8504:0.1496:0.0	.	1007;1133	B4DST5;Q9H3S7	.;PTN23_HUMAN	F	1133	ENSP00000265562:S1133F	ENSP00000265562:S1133F	S	+	2	0	PTPN23	47427690	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	2.033000	0.41136	2.468000	0.83385	0.563000	0.77884	TCT		0.711	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		23	80	0	0	0	1	0	23	80					T	47452686	C	T	47452686	3	4	115	1	0	0	0	0	1	0	0	0	12838	913	32	2	3476	2	PTPN23	3	47452686	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	8813269	47452686	150569744	25	37211											
LAMB2	3913	broad.mit.edu	37	chr3	49162783	49162783	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccattgcagacacatggccGgcagctagggaatccccact	10	15	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:49162783G>A	ENST00000418109.1	-	20	2787	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R875W	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	875	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACACATGGCCGGCAGCTAGGG	0.597																																						ENST00000418109.1																			0				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						c.(2623-2625)Cgg>Tgg		laminin, beta 2 (laminin S)							90	88	89					3																	49162783		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49162783G>A		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.2623C>T	3.37:g.49162783G>A	ENSP00000388325:p.Arg875Trp					LAMB2_ENST00000464891.1_5'UTR|LAMB2_ENST00000305544.4_Missense_Mutation_p.R875W	p.R875W	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	2787	-			875			Laminin EGF-like 7.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.2623C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560125	0.65538	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.55588	0.51;0.51	6.08	6.08	0.98989	EGF-like, laminin (2);	0.121540	0.56097	D	0.000036	T	0.66446	0.2790	M	0.91140	3.18	0.80722	D	1	B	0.22146	0.065	B	0.19148	0.024	T	0.67280	-0.5710	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	875	P55268	LAMB2_HUMAN	W	875	ENSP00000388325:R875W;ENSP00000307156:R875W	ENSP00000307156:R875W	R	-	1	2	LAMB2	49137787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.377000	0.59562	2.894000	0.99253	0.655000	0.94253	CGG		0.597	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		5	643	0	0	0	1	0	5	643					A	49162783	G	A	49162783	3	1	115	1	0	0	0	0	1	0	0	0	8642	1115	39	1	2829	1	LAMB2	3	49162783	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1710097	49162783	148859647	26	37212											
MST1	327	broad.mit.edu	37	chr3	49723596	49723596	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcctctgagccgtcgGggttccggcagaagttctcc	15	13	2	2	rs200900272		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:49723596G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.P349L|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.P335L(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667																																						ENST00000449682.2																			5	Substitution - Missense(5)	p.P335L(5)	endometrium(3)|skin(2)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1045-1047)cCc>cTc		macrophage stimulating 1 (hepatocyte growth factor-like)							12	16	15					3																	49723596		2189	4280	6469	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723596G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723596G>A						MST1_ENST00000383728.3_3'UTR	p.P349L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1407	-			335			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1046C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499226	0.96355	.	.	ENSG00000173531	ENST00000449682	D	0.83250	-1.7	5.47	5.47	0.80525	.	0.000000	0.42053	D	0.000771	D	0.90256	0.6953	M	0.88450	2.955	0.80722	D	1	P	0.35793	0.521	P	0.46419	0.516	D	0.90879	0.4752	10	0.62326	D	0.03	.	18.9304	0.92563	0.0:0.0:1.0:0.0	.	349	G3XAK1	.	L	349	ENSP00000414287:P349L	ENSP00000414287:P349L	P	-	2	0	MST1	49698600	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.855000	0.99526	2.561000	0.86390	0.655000	0.94253	CCC		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	188	0	0	0	1	0	7	188					A	49723596	G	A	49723596	1	1	115	0	1	0	0	0	0	0	0	0	9931	1232	43	2		2	MST1	3	49723596	IGR	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	560813	49723596	148298834	27	37213											
MST1R	4486	broad.mit.edu	37	chr3	49940112	49940112	+	Frame_Shift_Del	DEL	C	C	-													gggctgtccgccttctggggCcccccggcgcctgcgttttg					rs201805638		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:49940112delC	ENST00000296474.3	-	1	958	c.931delG	c.(931-933)gccfs	p.A311fs	MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs|CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	311	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTTCTGGGGCCCCCCGGCGC	0.667																																						ENST00000296474.3																			0				cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37						c.(931-933)ccfs		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							60	72	68					3																	49940112		2203	4300	6503	SO:0001589	frameshift_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49940112delC	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.931delG	3.37:g.49940112delC	ENSP00000296474:p.Ala311fs					CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs	p.A311fs	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	1	958	-			311			Sema.		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	ENST00000296474.3	37	c.931delG	CCDS2807.1																																																																																				0.667	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			7	1010						7	1010	---	---	---	---	-	49940112	C	-	49940112	7	5	115	1	0	1	0	1	0	0	0	0	9932	739	26	0	3351	0	MST1R	3	49940112	Frame_Shift_Del	DEL	C	TCGA-US-A77G-01A-11D-A32N-08	216516	49940112	148082318	28	37214											
DNAH1	25981	broad.mit.edu	37	chr3	52383089	52383089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aacaacaatgacattgcctcCtttctcaagtgcgtacgtgt	7	11	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:52383089C>T	ENST00000420323.2	+	13	2553	c.2292C>T	c.(2290-2292)tcC>tcT	p.S764S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	764	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACATTGCCTCCTTTCTCAAGT	0.577																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(2290-2292)tcC>tcT		dynein, axonemal, heavy chain 1							129	131	130					3																	52383089		2193	4279	6472	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383089C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2292C>T	3.37:g.52383089C>T							p.S764S	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	13	2553	+			764			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.2292C>T	CCDS46842.1																																																																																				0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		52	190	0	0	0	1	0	52	190					T	52383089	C	T	52383089	2	4	115	1	0	0	0	0	0	0	0	1	4613	668	24	2		2	DNAH1	3	52383089	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	2442977	52383089	145639341	29	37215											
LRIG1	26018	broad.mit.edu	37	chr3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-													caggcaaaggtcatgggggaGctgctgctgctggctgctga							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				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)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				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						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	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.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		8	1532						8	1532	---	---	---	---	-	66436627	GCT	-	66436625	7	5	115	1	0	1	0	1	0	0	0	0	8982	962	34	0	1740	0	LRIG1	3	66436625	In_Frame_Del	DEL	GCT	TCGA-US-A77G-01A-11D-A32N-08	14053536	66436625	131585805	30	37216											
KIAA1407	57577	broad.mit.edu	37	chr3	113699548	113699548	+	Frame_Shift_Del	DEL	T	T	-													ctcttccaaggctctagaccTtttttccttagcaagaccct							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:113699548delT	ENST00000295878.3	-	14	2402	c.2256delA	c.(2254-2256)aaafs	p.K752fs	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	752										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTCTAGACCTTTTTTCCTTA	0.408																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2254-2256)aafs		KIAA1407							239	229	233					3																	113699548		2203	4300	6503	SO:0001589	frameshift_variant	57577							g.chr3:113699548delT	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.2256delA	3.37:g.113699548delT	ENSP00000295878:p.Lys752fs					KIAA1407_ENST00000545063.1_3'UTR	p.K752fs	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			14	2402	-			752					B4DYL1|Q9P2E0	Frame_Shift_Del	DEL	ENST00000295878.3	37	c.2256delA	CCDS2977.1																																																																																				0.408	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		7	1072						7	1072	---	---	---	---	-	113699548	T	-	113699548	7	5	115	1	0	1	0	1	0	0	0	0	8259	1606	56	0	570	0	KIAA1407	3	113699548	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	47262923	113699548	84322882	31	37217											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	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.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		8	391						8	391	---	---	---	---	-	149260196	CTG	-	149260194	7	5	115	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-US-A77G-01A-11D-A32N-08	35560646	149260194	48762236	32	37218											
GOLIM4	27333	broad.mit.edu	37	chr3	167728536	167728536	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtatcccggtcatacattttCatcattttcaccataggtct	5	11	5	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr3:167728536C>A	ENST00000470487.1	-	15	2625	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E618*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	646	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATACATTTTCATCATTTTCA	0.378																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1936-1938)Gaa>Taa		golgi integral membrane protein 4							187	179	182					3																	167728536		2203	4300	6503	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167728536C>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1936G>T	3.37:g.167728536C>A	ENSP00000417354:p.Glu646*					GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.E618*	p.E646*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			15	2625	-			646			Glu-rich.			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.1936G>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	44	10.733399	0.99458	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	4.93	4.93	0.64822	.	0.307810	0.35262	N	0.003340	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-5.825	16.3722	0.83368	0.0:1.0:0.0:0.0	.	.	.	.	X	646;618	.	ENSP00000309893:E618X	E	-	1	0	GOLIM4	169211230	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.079000	0.50104	2.299000	0.77371	0.555000	0.69702	GAA		0.378	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			5	484	1	0	1	1	1	5	484					A	167728536	C	A	167728536	4	1	115	1	0	0	0	0	0	1	0	0	6595	835	29	3	162	3	GOLIM4	3	167728536	Nonsense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	18468342	167728536	30293894	33	37219											
ZNF732	654254	broad.mit.edu	37	chr4	265272	265272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtttactcaggtatgcAgaccatccaaaggctttgcc	8	10	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:265272A>G	ENST00000419098.1	-	4	1384	c.1374T>C	c.(1372-1374)tcT>tcC	p.S458S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	458					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						TCAGGTATGCAGACCATCCAA	0.393																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(1372-1374)tcT>tcC		zinc finger protein 732							68	60	62					4																	265272		692	1591	2283	SO:0001819	synonymous_variant	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265272A>G	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.1374T>C	4.37:g.265272A>G							p.S458S	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	1384	-			458						Silent	SNP	ENST00000419098.1	37	c.1374T>C	CCDS46990.1																																																																																				0.393	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		4	57	0	0	0	1	0	4	57					G	265272	A	G	265272	2	3	115	1	0	0	0	0	0	0	0	1	18176	175	7	4		4	ZNF732	4	265272	Silent	SNP	A	TCGA-US-A77G-01A-11D-A32N-08		265272	190889004	34	37220											
TLR1	7096	broad.mit.edu	37	chr4	38799732	38799732	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	tgataactttggatttgtttGaagtttcgccagaatactta	8	5	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:38799732G>A	ENST00000502213.2	-	3	950	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	TLR1_ENST00000308979.2_Nonsense_Mutation_p.Q241*			Q15399	TLR1_HUMAN	toll-like receptor 1	241					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGATTTGTTTGAAGTTTCGCC	0.348																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(721-723)Caa>Taa		toll-like receptor 1							59	65	63					4																	38799732		2203	4299	6502	SO:0001587	stop_gained	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799732G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.721C>T	4.37:g.38799732G>A	ENSP00000421259:p.Gln241*					TLR1_ENST00000502213.2_Nonsense_Mutation_p.Q241*	p.Q241*	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	994	-			241					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Nonsense_Mutation	SNP	ENST00000502213.2	37	c.721C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798266	0.70567	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	4.69	0.633	0.17712	.	1.133800	0.06641	N	0.761075	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.2911	0.37786	0.0:0.11:0.2678:0.6222	.	.	.	.	X	241	.	ENSP00000354932:Q241X	Q	-	1	0	TLR1	38476127	0.050000	0.20438	0.077000	0.20336	0.001000	0.01503	0.818000	0.27295	0.259000	0.21709	-0.169000	0.13324	CAA		0.348	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			48	164	0	0	0	1	0	48	164					A	38799732	G	A	38799732	4	1	115	1	0	0	0	0	0	1	0	0	16001	1299	45	2	1643	2	TLR1	4	38799732	Nonsense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	38534460	38799732	152354544	35	37221											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69337338	69337338	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atcctcactcagttaaaattAaaagtaagttaatttctctt	3	7	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:69337338A>G	ENST00000305363.4	+	5	551	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	163	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGTTAAAATTAAAAGTAAGTT	0.308																																						ENST00000305363.4																			0				endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						c.(487-489)Aaa>Gaa		transmembrane protease, serine 11E							76	81	79					4																	69337338		2203	4298	6501	SO:0001583	missense	28983				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69337338A>G	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"Serine peptidases / Transmembrane"	24465	protein-coding gene	gene with protein product		610399	"transmembrane protease, serine 11E2"	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.487A>G	4.37:g.69337338A>G	ENSP00000307519:p.Lys163Glu						p.K163E	NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN			5	551	+			163			SEA.		A6NL71|Q14DC8|Q6UW31	Missense_Mutation	SNP	ENST00000305363.4	37	c.487A>G	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	A	8.476	0.858592	0.17178	.	.	ENSG00000087128	ENST00000305363	T	0.31769	1.48	5.83	5.83	0.93111	.	0.391906	0.21879	N	0.067776	T	0.19765	0.0475	L	0.27053	0.805	0.31370	N	0.680243	P	0.37781	0.608	B	0.35413	0.202	T	0.09662	-1.0664	10	0.10111	T	0.7	.	12.5838	0.56406	1.0:0.0:0.0:0.0	.	163	Q9UL52	TM11E_HUMAN	E	163	ENSP00000307519:K163E	ENSP00000307519:K163E	K	+	1	0	TMPRSS11E	69019933	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	3.137000	0.50562	2.229000	0.72834	0.482000	0.46254	AAA		0.308	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058		102	467	0	0	0	1	0	102	467					G	69337338	A	G	69337338	3	3	115	1	0	0	0	0	1	0	0	0	16294	363	13	4	505	4	TMPRSS11E	4	69337338	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	30537606	69337338	121816938	36	37222											
NPNT	255743	broad.mit.edu	37	chr4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-													agccaacaccaattcctactCcaccaccaccaccacccctg					rs368167746		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				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)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		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.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		8	478						8	478	---	---	---	---	-	106863684	CCA	-	106863682	7	5	115	1	0	1	0	1	0	0	0	0	10632	855	30	0	1161	0	NPNT	4	106863682	In_Frame_Del	DEL	CCA	TCGA-US-A77G-01A-11D-A32N-08	37526344	106863682	84290594	37	37223											
PCDH18	54510	broad.mit.edu	37	chr4	138449640	138449640	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ctaccctcttacctgctggaAttcttccatctgtgagaaac	6	13	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr4:138449640A>T	ENST00000344876.4	-	3	3118	c.2732T>A	c.(2731-2733)aTt>aAt	p.I911N	PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N|PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N|PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N|PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	911	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCTGCTGGAATTCTTCCATC	0.403																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2731-2733)aTt>aAt		protocadherin 18							141	156	151					4																	138449640		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449640A>T	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.2732T>A	4.37:g.138449640A>T	ENSP00000355082:p.Ile911Asn					PCDH18_ENST00000511115.1_Missense_Mutation_p.I91N|PCDH18_ENST00000510305.1_Missense_Mutation_p.I122N|PCDH18_ENST00000507846.1_Missense_Mutation_p.I690N|PCDH18_ENST00000412923.2_Missense_Mutation_p.I910N	p.I911N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			3	3118	-	all_hematologic(180;0.24)		911			Interaction with DAB1 (By similarity).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2732T>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.410409	0.42715	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.52754	0.74;0.74;0.65;1.57;1.57	5.56	4.38	0.52667	.	0.000000	0.43747	D	0.000521	T	0.37571	0.1008	L	0.40543	1.245	0.34420	D	0.697313	B;B;B;B	0.10296	0.003;0.0;0.001;0.001	B;B;B;B	0.08055	0.003;0.0;0.001;0.0	T	0.42327	-0.9458	10	0.28530	T	0.3	.	11.4281	0.50022	0.9295:0.0:0.0705:0.0	.	91;690;910;911	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	N	911;910;690;122;91	ENSP00000355082:I911N;ENSP00000390688:I910N;ENSP00000425903:I690N;ENSP00000424269:I122N;ENSP00000425647:I91N	ENSP00000355082:I911N	I	-	2	0	PCDH18	138669090	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.178000	0.71968	0.943000	0.37553	0.533000	0.62120	ATT		0.403	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		191	730	0	0	0	1	0	191	730					T	138449640	A	T	138449640	3	4	115	1	0	0	0	0	1	0	0	0	11555	101	4	5	683	5	PCDH18	4	138449640	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	31585958	138449640	52704636	38	37224											
SLC6A18	348932	broad.mit.edu	37	chr5	1244416	1244416	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagattttcgacaattttgCcgcttccccgaacctgctca	8	13	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1244416C>T	ENST00000324642.3	+	10	1547	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V	SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	475					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACAATTTTGCCGCTTCCCCG	0.582																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1423-1425)gCc>gTc		solute carrier family 6 (neutral amino acid transporter), member 18							147	147	147					5																	1244416		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244416C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1424C>T	5.37:g.1244416C>T	ENSP00000323549:p.Ala475Val					SLC6A18_ENST00000296821.4_Missense_Mutation_p.A373V	p.A475V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1547	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		475						Missense_Mutation	SNP	ENST00000324642.3	37	c.1424C>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975383	0.34848	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.76578	-1.03;-1.03	4.87	-1.66	0.08265	.	0.373560	0.27126	N	0.020814	T	0.58177	0.2104	N	0.21617	0.685	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.49341	-0.8950	10	0.87932	D	0	.	5.9492	0.19235	0.0:0.3423:0.141:0.5167	.	475	Q96N87	S6A18_HUMAN	V	475;373	ENSP00000323549:A475V;ENSP00000296821:A373V	ENSP00000296821:A373V	A	+	2	0	SLC6A18	1297416	0.226000	0.23696	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	-0.361000	0.08125	-1.036000	0.02392	GCC		0.582	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		6	675	0	0	0	1	0	6	675					T	1244416	C	T	1244416	3	4	115	1	0	0	0	0	1	0	0	0	14731	739	26	2	1462	2	SLC6A18	5	1244416	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		1244416	179670844	39	37225											
TERT	7015	broad.mit.edu	37	chr5	1260644	1260644	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaagaccccaaagagtttgCgacgcatgttcctcccagcc	9	15	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:1260644C>T	ENST00000310581.5	-	12	2972	c.2915G>A	c.(2914-2916)cGc>cAc	p.R972H	TERT_ENST00000334602.6_Missense_Mutation_p.R909H|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	972	CTE.				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)	AAAGAGTTTGCGACGCATGTT	0.562									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2914-2916)cGc>cAc		telomerase reverse transcriptase							113	126	122					5																	1260644		2132	4226	6358	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1260644C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2915G>A	5.37:g.1260644C>T	ENSP00000309572:p.Arg972His					TERT_ENST00000334602.6_Missense_Mutation_p.R909H|TERT_ENST00000296820.5_3'UTR	p.R972H	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		12	2972	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		972			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2915G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	7.249	0.602786	0.13939	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	T;T	0.65549	-0.16;-0.16	4.53	-0.866	0.10659	.	0.610202	0.16470	N	0.213001	T	0.47507	0.1449	L	0.61387	1.9	0.09310	N	1	P;P	0.42078	0.589;0.77	B;B	0.27500	0.053;0.08	T	0.38779	-0.9645	10	0.45353	T	0.12	-10.2335	9.3037	0.37863	0.0:0.3498:0.0:0.6502	.	909;972	O14746-3;O14746	.;TERT_HUMAN	H	972;909	ENSP00000309572:R972H;ENSP00000334346:R909H	ENSP00000309572:R972H	R	-	2	0	TERT	1313644	0.011000	0.17503	0.241000	0.24154	0.257000	0.26127	-0.013000	0.12678	-0.092000	0.12417	-0.258000	0.10820	CGC		0.562	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	413	0	0	0	1	0	5	413					T	1260644	C	T	1260644	3	4	115	1	0	0	0	0	1	0	0	0	15816	768	27	1	503	1	TERT	5	1260644	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	16228	1260644	179654616	40	37226											
SPEF2	79925	broad.mit.edu	37	chr5	35691186	35691187	+	Frame_Shift_Ins	INS	-	-	CCACCCT													aagaaatggttgacaatttaINSccaccctccaacaattgcat					rs576319777		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:35691186_35691187insCCACCCT	ENST00000356031.3	+	11	1726_1727	c.1572_1573insCCACCCT	c.(1573-1575)ccafs	p.-527fs	SPEF2_ENST00000440995.2_Frame_Shift_Ins_p.-527fs|SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.-527fs|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2						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)			TTGACAATTTACCACCCTCCAA	0.396																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1570-1575)ttcaccfs		sperm flagellar 2																																				SO:0001589	frameshift_variant	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691186_35691187insCCACCCT	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.1573_1579dupCCACCCT	5.37:g.35691187_35691193dupCCACCCT	ENSP00000348314:p.Ser527fs					SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.T525fs|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Frame_Shift_Ins_p.T525fs	p.T525fs			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1572_1573	+	all_lung(31;7.56e-05)		525					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Ins	INS	ENST00000356031.3	37	c.1572_1573insCCACCCT	CCDS43309.1																																																																																				0.396	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		31	391						31	391	---	---	---	---	CCACCCT	35691187	-	CCACCCT	35691186	7	5	115	1	0	1	1	0	0	0	0	0	15087	388	14	0	1635	0	SPEF2	5	35691186	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	34430542	35691186	145224074	41	37227											
ENC1	8507	broad.mit.edu	37	chr5	73931388	73931388	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggtctaccagatacaacttgTcacacatgaaagtctgtcct	7	11	3	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:73931388T>A	ENST00000302351.4	-	2	2053	c.923A>T	c.(922-924)gAc>gTc	p.D308V	ENC1_ENST00000510316.1_Missense_Mutation_p.D235V|ENC1_ENST00000537006.1_Missense_Mutation_p.D308V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	308					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATACAACTTGTCACACATGAA	0.498																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(922-924)gAc>gTc		ectodermal-neural cortex 1 (with BTB domain)							95	99	97					5																	73931388		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931388T>A	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.923A>T	5.37:g.73931388T>A	ENSP00000306356:p.Asp308Val					ENC1_ENST00000537006.1_Missense_Mutation_p.D308V|ENC1_ENST00000510316.1_Missense_Mutation_p.D235V	p.D308V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2053	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	308					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.923A>T	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863395	0.71949	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.66280	-0.2;-0.2;-0.2	6.04	6.04	0.98038	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	L	0.55990	1.75	0.80722	D	1	P	0.51351	0.944	P	0.52343	0.696	T	0.66548	-0.5896	10	0.33940	T	0.23	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	308	O14682	ENC1_HUMAN	V	308;235;308	ENSP00000306356:D308V;ENSP00000423804:D235V;ENSP00000446289:D308V	ENSP00000306356:D308V	D	-	2	0	ENC1	73967144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.317000	0.78254	0.459000	0.35465	GAC		0.498	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		65	290	0	0	0	1	0	65	290					A	73931388	T	A	73931388	3	1	115	1	0	0	0	0	1	0	0	0	5131	1667	58	5	850	5	ENC1	5	73931388	Missense_Mutation	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	38240202	73931388	106983872	42	37228											
GCNT4	51301	broad.mit.edu	37	chr5	74324983	74324983	+	Frame_Shift_Del	DEL	G	G	-													aacaaatatctgaatgttatGggggggtgcttccttggaga							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:74324983delG	ENST00000322348.4	-	1	1741	c.880delC	c.(880-882)catfs	p.H294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					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)	p.H294fs*2(1)		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)		TGAATGTTATGGGGGGGTGCT	0.363																																						ENST00000322348.4																			1	Insertion - Frameshift(1)	p.H294fs*2(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(880-882)atfs		glucosaminyl (N-acetyl) transferase 4, core 2							60	62	61					5																	74324983		2203	4300	6503	SO:0001589	frameshift_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74324983delG	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.880delC	5.37:g.74324983delG	ENSP00000317027:p.His294fs						p.H294fs	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1741	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	294						Frame_Shift_Del	DEL	ENST00000322348.4	37	c.880delC	CCDS4026.1																																																																																				0.363	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		7	459						7	459	---	---	---	---	-	74324983	G	-	74324983	7	5	115	1	0	1	0	1	0	0	0	0	6331	1348	47	0	485	0	GCNT4	5	74324983	Frame_Shift_Del	DEL	G	TCGA-US-A77G-01A-11D-A32N-08	393595	74324983	106590277	43	37229											
MSH3	4437	broad.mit.edu	37	chr5	79974874	79974874	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttccttcggccttgtccgaGcaaacagaggcgctcatcca	9	15	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:79974874G>A	ENST00000265081.6	+	8	1382	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	434					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)		CCTTGTCCGAGCAAACAGAGG	0.478								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				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						c.(1300-1302)gaG>gaA	Mismatch excision repair (MMR)	mutS homolog 3							137	134	135					5																	79974874		2203	4300	6503	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79974874G>A	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.1302G>A	5.37:g.79974874G>A							p.E434E	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	8	1382	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	434					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.1302G>A	CCDS34195.1																																																																																				0.478	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		7	870	0	0	0	1	0	7	870					A	79974874	G	A	79974874	2	1	115	1	0	0	0	0	0	0	0	1	9912	962	34	2		2	MSH3	5	79974874	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5649891	79974874	100940386	44	37230											
CHSY3	337876	broad.mit.edu	37	chr5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcataattacatgctcagccGcaaaatttctgaacttcgct	6	11	2	1	rs140992502		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	412					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)		ATGCTCAGCCGCAAAATTTCT	0.478																																						ENST00000305031.4																			0				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						c.(1234-1236)cGc>cAc		chondroitin sulfate synthase 3		G	HIS/ARG	0,4406		0,0,2203	98	89	92		1235	4.5	1	5	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CHSY3	NM_175856.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	412/883	129520070	2,13004	2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520070G>A	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.1235G>A	5.37:g.129520070G>A	ENSP00000302629:p.Arg412His					CHSY3_ENST00000507545.1_3'UTR	p.R412H	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1593	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	412					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1235G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	0.0	2.33E-4	ENSG00000198108	ENST00000305031	T	0.15834	2.39	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000016	T	0.27241	0.0668	M	0.65975	2.015	0.80722	D	1	P	0.48998	0.918	P	0.45998	0.5	T	0.03017	-1.1082	9	.	.	.	-2.8659	18.5119	0.90920	0.0:0.0:1.0:0.0	.	412	Q70JA7	CHSS3_HUMAN	H	412	ENSP00000302629:R412H	.	R	+	2	0	CHSY3	129547969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.779000	0.95612	0.650000	0.86243	CGC		0.478	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		6	365	0	0	0	1	0	6	365					A	129520070	G	A	129520070	3	1	115	1	0	0	0	0	1	0	0	0	3422	1087	38	1	1245	1	CHSY3	5	129520070	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49545196	129520070	51395190	45	37231											
AFF4	27125	broad.mit.edu	37	chr5	132270259	132270259	+	Frame_Shift_Del	DEL	T	T	-													tgttctgatccatgctggccTtttttccggctactgctccc					rs35626495		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:132270259delT	ENST00000265343.5	-	3	877	c.498delA	c.(496-498)aaafs	p.K166fs	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	166	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)			CATGCTGGCCTTTTTTCCGGC	0.512																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(496-498)aafs		AF4/FMR2 family, member 4							164	160	161					5																	132270259		2203	4300	6503	SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270259delT	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.498delA	5.37:g.132270259delT	ENSP00000265343:p.Lys166fs					AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Frame_Shift_Del_p.K166fs	p.K166fs	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	877	-		all_cancers(142;0.145)|Breast(839;0.198)	166			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Del	DEL	ENST00000265343.5	37	c.498delA	CCDS4164.1																																																																																				0.512	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		7	853						7	853	---	---	---	---	-	132270259	T	-	132270259	7	5	115	1	0	1	0	1	0	0	0	0	359	1606	56	0	3069	0	AFF4	5	132270259	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	2750189	132270259	48645001	46	37232											
PCDHA7	56141	broad.mit.edu	37	chr5	140216008	140216008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggcaccaaaggcgtcgtcGcgggcatcgttgggcattgc	15	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140216008G>A	ENST00000525929.1	+	1	2040	c.2040G>A	c.(2038-2040)tcG>tcA	p.S680S	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	680					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)			AGGCGTCGTCGCGGGCATCGT	0.622																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(2038-2040)tcG>tcA									89	82	84					5																	140216008		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140216008G>A	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.2040G>A	5.37:g.140216008G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.S680S|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.S680S	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2040	+								O75282	Silent	SNP	ENST00000525929.1	37	c.2040G>A	CCDS54918.1																																																																																				0.622	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		89	385	0	0	0	1	0	89	385					A	140216008	G	A	140216008	2	1	115	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHA7	5	140216008	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	7945749	140216008	40699252	47	37233											
PCDHA8	56140	broad.mit.edu	37	chr5	140221029	140221029	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgaggaggccaaacaCggcaccttcgtgggccggat	14	14	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140221029C>T	ENST00000531613.1	+	1	123	c.123C>T	c.(121-123)caC>caT	p.H41H	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	41	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)			AGGCCAAACACGGCACCTTCG	0.672																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(121-123)caC>caT									44	51	48					5																	140221029		2202	4299	6501	SO:0001819	synonymous_variant	0							g.chr5:140221029C>T	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.123C>T	5.37:g.140221029C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.H41H|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.H41H	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	123	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.123C>T	CCDS54919.1																																																																																				0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		44	398	0	0	0	1	0	44	398					T	140221029	C	T	140221029	2	4	115	1	0	0	0	0	0	0	0	1	11572	535	19	1		1	PCDHA8	5	140221029	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	5021	140221029	40694231	48	37234											
PCDHB4	56131	broad.mit.edu	37	chr5	140503632	140503632	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcccaggccgactcTctcaccgtctacctggtggt	11	17	3	0	rs368817063	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140503632T>C	ENST00000194152.1	+	1	2052	c.2052T>C	c.(2050-2052)tcT>tcC	p.S684S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	684					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)			AGGCCGACTCTCTCACCGTCT	0.697																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(2050-2052)tcT>tcC									64	74	71					5																	140503632		2163	4230	6393	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503632T>C	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.2052T>C	5.37:g.140503632T>C							p.S684S	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2052	+			684					Q4V761	Silent	SNP	ENST00000194152.1	37	c.2052T>C	CCDS4246.1																																																																																				0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		9	1034	0	0	0	1	0	9	1034					C	140503632	T	C	140503632	2	2	115	1	0	0	0	0	0	0	0	1	11586	1538	54	4		4	PCDHB4	5	140503632	Silent	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	282603	140503632	40411628	49	37235											
PCDHB10	56126	broad.mit.edu	37	chr5	140573626	140573626	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagacccgcacctgcccctcGcctccctggtctccatcaac	6	21	2	1	rs139403329	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140573626G>A	ENST00000239446.4	+	1	1685	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(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)			CCTGCCCCTCGCCTCCCTGGT	0.682													G|||	6	0.00119808	0.0	0.0	5008	,	,		17329	0.006		0.0	False		,,,				2504	0.0					ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1501-1503)Gcc>Acc				G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92	107	102		1501	-0.9	0	5	dbSNP_134	102	0,8598		0,0,4299	no	missense	PCDHB10	NM_018930.3	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	501/801	140573626	1,13003	2203	4299	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573626G>A	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.1501G>A	5.37:g.140573626G>A	ENSP00000239446:p.Ala501Thr						p.A501T	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1685	+			501			Cadherin 5.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1501G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	5.211	0.224416	0.09863	2.27E-4	0.0	ENSG00000120324	ENST00000239446	T	0.01821	4.62	3.53	-0.896	0.10557	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.15870	0.014	T	0.46596	-0.9180	9	0.38643	T	0.18	.	3.3872	0.07276	0.1695:0.1119:0.542:0.1766	.	501	Q9UN67	PCDBA_HUMAN	T	501	ENSP00000239446:A501T	ENSP00000239446:A501T	A	+	1	0	PCDHB10	140553810	0.000000	0.05858	0.002000	0.10522	0.417000	0.31264	-1.722000	0.01868	0.002000	0.14630	-1.227000	0.01581	GCC		0.682	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		8	1073	0	0	0	1	0	8	1073					A	140573626	G	A	140573626	3	1	115	1	0	0	0	0	1	0	0	0	11577	1087	38	1	1503	1	PCDHB10	5	140573626	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	69994	140573626	40341634	50	37236											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773877	140773877	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggacacgctgcagggggcGcccctgtcctcgtatatctc	13	14	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	499	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)			TGCAGGGGGCGCCCCTGTCCT	0.562																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1495-1497)gcG>gcA									45	52	50					5																	140773877		2164	4284	6448	SO:0001819	synonymous_variant	0							g.chr5:140773877G>A	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.1497G>A	5.37:g.140773877G>A						PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	p.A499A	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1497	+								A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.1497G>A	CCDS47291.1																																																																																				0.562	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		46	178	0	0	0	1	0	46	178					A	140773877	G	A	140773877	2	1	115	1	0	0	0	0	0	0	0	1	11602	1074	38	1		1	PCDHGA8	5	140773877	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	200251	140773877	40141383	51	37237											
FAM71B	153745	broad.mit.edu	37	chr5	156589868	156589868	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtttttatggccagatgCggaccggtgggaagacgctt	15	8	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:156589868C>T	ENST00000302938.4	-	2	1503	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	470						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)			TGGCCAGATGCGGACCGGTGG	0.532																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1408-1410)Gca>Aca		family with sequence similarity 71, member B							204	194	197					5																	156589868		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589868C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1408G>A	5.37:g.156589868C>T	ENSP00000305596:p.Ala470Thr						p.A470T	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1503	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	470					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1408G>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032795	0.19590	.	.	ENSG00000170613	ENST00000302938	T	0.19806	2.12	4.64	-9.28	0.00656	.	1.737350	0.03907	N	0.281301	T	0.06735	0.0172	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22906	-1.0203	10	0.23302	T	0.38	0.0025	4.3119	0.10974	0.1338:0.5568:0.1468:0.1627	.	470	Q8TC56	FA71B_HUMAN	T	470	ENSP00000305596:A470T	ENSP00000305596:A470T	A	-	1	0	FAM71B	156522446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.937000	0.01547	-2.061000	0.00892	-1.268000	0.01426	GCA		0.532	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		6	729	0	0	0	1	0	6	729					T	156589868	C	T	156589868	3	4	115	1	0	0	0	0	1	0	0	0	5633	768	27	1	413	1	FAM71B	5	156589868	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	15815991	156589868	24325392	52	37238											
FGFR4	2264	broad.mit.edu	37	chr5	176520430	176520430	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccctggagtcaggctcttcCggcaagtcaagctcatccct	9	15	4	0	rs201812753	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:176520430C>T	ENST00000292408.4	+	10	1520	c.1275C>T	c.(1273-1275)tcC>tcT	p.S425S	FGFR4_ENST00000393637.1_Silent_p.S385S|FGFR4_ENST00000393648.2_Missense_Mutation_p.P374L|FGFR4_ENST00000502906.1_Silent_p.S425S|FGFR4_ENST00000292410.3_Silent_p.S385S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	425					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)	CAGGCTCTTCCGGCAAGTCAA	0.622										TSP Lung(9;0.080)			C|||	4	0.000798722	0.0	0.0	5008	,	,		16981	0.003		0.0	False		,,,				2504	0.001					ENST00000393648.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(1120-1122)cCg>cTg		fibroblast growth factor receptor 4	Palifermin(DB00039)						80	81	81					5																	176520430		2203	4300	6503	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176520430C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.1275C>T	5.37:g.176520430C>T		TSP Lung(9;0.080)				FGFR4_ENST00000393637.1_Silent_p.S385S|FGFR4_ENST00000292410.3_Silent_p.S385S|FGFR4_ENST00000502906.1_Silent_p.S425S|FGFR4_ENST00000292408.4_Silent_p.S425S	p.P374L			P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1303	+	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)	0					G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	c.1121C>T	CCDS4410.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	C|C	10.16|10.16	1.274249|1.274249	0.23221|0.23221	.|.	.|.	ENSG00000160867|ENSG00000160867	ENST00000393648|ENST00000511076	T|.	0.78481|.	-1.18|.	4.76|4.76	-9.52|-9.52	0.00578|0.00578	.|.	.|.	.|.	.|.	.|.	T|T	0.43743|0.43743	0.1261|0.1261	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.52480|0.52480	-0.8570|-0.8570	8|4	0.44086|.	T|.	0.13|.	.|.	5.7567|5.7567	0.18176|0.18176	0.1148:0.0898:0.4839:0.3115|0.1148:0.0898:0.4839:0.3115	.|.	374|.	B4DVP5|.	.|.	L|W	374|57	ENSP00000377259:P374L|.	ENSP00000377259:P374L|.	P|R	+|+	2|1	0|2	FGFR4|FGFR4	176453036|176453036	0.000000|0.000000	0.05858|0.05858	0.212000|0.212000	0.23672|0.23672	0.653000|0.653000	0.38743|0.38743	-7.064000|-7.064000	0.00045|0.00045	-3.096000|-3.096000	0.00246|0.00246	-0.315000|-0.315000	0.08773|0.08773	CCG|CGG		0.622	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			130	533	0	0	0	1	0	130	533					T	176520430	C	T	176520430	2	4	115	1	0	0	0	0	0	0	0	1	5893	639	23	1		1	FGFR4	5	176520430	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	19930562	176520430	4394830	53	37239											
AGXT2L2	85007	broad.mit.edu	37	chr5	177657001	177657001	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtctctgacagcctctgcGcatagtccacgatgttgtca	11	12	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr5:177657001G>A	ENST00000308158.5	-	3	512	c.278C>T	c.(277-279)gCg>gTg	p.A93V	PHYKPL_ENST00000476170.2_Missense_Mutation_p.A93V|PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	93						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CAGCCTCTGCGCATAGTCCAC	0.582																																						ENST00000308158.5																			0											c.(277-279)gCg>gTg		5-phosphohydroxy-L-lysine phospho-lyase							127	116	119					5																	177657001		2203	4300	6503	SO:0001583	missense	85007							g.chr5:177657001G>A	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.278C>T	5.37:g.177657001G>A	ENSP00000310978:p.Ala93Val					PHYKPL_ENST00000476170.2_Missense_Mutation_p.A93V|PHYKPL_ENST00000481811.1_Intron	p.A93V	NM_153373.2	NP_699204.1					3	512	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.278C>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082507	0.94050	.	.	ENSG00000175309	ENST00000308158;ENST00000323594;ENST00000476170	T;T;T	0.53857	1.65;0.6;1.65	5.26	5.26	0.73747	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.108809	0.64402	D	0.000007	T	0.79305	0.4423	H	0.94847	3.59	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	D	0.84816	0.0793	10	0.62326	D	0.03	-7.4134	16.723	0.85415	0.0:0.0:1.0:0.0	.	93	Q8IUZ5	AT2L2_HUMAN	V	93;107;93	ENSP00000310978:A93V;ENSP00000321290:A107V;ENSP00000421810:A93V	ENSP00000310978:A93V	A	-	2	0	AGXT2L2	177589607	1.000000	0.71417	0.423000	0.26634	0.946000	0.59487	9.783000	0.99037	2.632000	0.89209	0.561000	0.74099	GCG		0.582	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		5	596	0	0	0	1	0	5	596					A	177657001	G	A	177657001	3	1	115	1	0	0	0	0	1	0	0	0	407	1087	38	1	1114	1	AGXT2L2	5	177657001	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1136571	177657001	3258259	54	37240											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccatggccttagaggagatgCcggtgtcggggtggacctgc	17	10	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:27114417C>T	ENST00000356950.1	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.G54D|MIR3143_ENST00000584253.1_RNA|HIST1H2AH_ENST00000377459.1_5'Flank			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582																																						ENST00000396891.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(160-162)gGc>gAc		histone cluster 1, H2bk							106	96	99					6																	27114417		2203	4296	6499	SO:0001583	missense	85236				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114417C>T	AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.161G>A	6.37:g.27114417C>T	ENSP00000349430:p.Gly54Asp					HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN			1	202	-			54					A8K7P7|Q2VPI7	Missense_Mutation	SNP	ENST00000356950.1	37	c.161G>A	CCDS4621.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.382839	0.82792	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.69435	-0.4;-0.4	4.05	3.14	0.36123	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.84817	0.5556	H	0.98487	4.245	0.46317	D	0.998988	D	0.71674	0.998	D	0.72075	0.976	D	0.89042	0.3449	9	0.87932	D	0	.	11.8762	0.52548	0.0:0.821:0.179:0.0	.	54	O60814	H2B1K_HUMAN	D	54	ENSP00000380100:G54D;ENSP00000349430:G54D	ENSP00000349430:G54D	G	-	2	0	HIST1H2BK	27222396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.198000	0.65147	0.961000	0.38030	0.650000	0.86243	GGC		0.582	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593		7	881	0	0	0	1	0	7	881					T	27114417	C	T	27114417	3	4	115	1	0	0	0	0	1	0	0	0	7180	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		27114417	144000650	55	37241											
ZFP57	4340	broad.mit.edu	37	chr6	29641221	29641221	+	IGR	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctccccaagatgcatgcGtctgtgatagctgagggact	11	12	2	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:29641221G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.R223C|ZFP57_ENST00000376881.3_Missense_Mutation_p.R203C|ZFP57_ENST00000376883.1_Missense_Mutation_p.R203C	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						AGATGCATGCGTCTGTGATAG	0.537																																						ENST00000376883.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						c.(607-609)Cgc>Tgc		ZFP57 zinc finger protein							91	102	98					6																	29641221		1350	2606	3956	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641221G>A		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.29641221G>A						ZFP57_ENST00000376881.3_Missense_Mutation_p.R203C|ZFP57_ENST00000488757.1_Missense_Mutation_p.R223C	p.R203C			Q9NU63	ZFP57_HUMAN			6	1018	-			139					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	ENST00000376917.3	37	c.607C>T	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500590	0.26861	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.25749	1.78;1.78;1.78	4.4	2.57	0.30868	.	0.531595	0.15970	N	0.235819	T	0.20455	0.0492	M	0.83603	2.65	0.09310	N	1	D;D	0.56968	0.978;0.978	P;P	0.46275	0.51;0.51	T	0.05037	-1.0910	10	0.87932	D	0	-10.225	7.8719	0.29571	0.0959:0.1674:0.7367:0.0	.	223;203	Q9NU63-3;Q9NU63-2	.;.	C	223;203;203	ENSP00000418259:R223C;ENSP00000366078:R203C;ENSP00000366080:R203C	ENSP00000366078:R203C	R	-	1	0	ZFP57	29749200	0.000000	0.05858	0.014000	0.15608	0.026000	0.11368	0.838000	0.27572	1.182000	0.42928	0.650000	0.86243	CGC		0.537	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		80	245	0	0	0	1	0	80	245					A	29641221	G	A	29641221	1	1	115	0	1	0	0	0	0	0	0	0	17704	1145	40	1		1	ZFP57	6	29641221	IGR	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2526804	29641221	141473846	56	37242											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	1	23	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000414083.2_Silent_p.E376E|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"Mis, F, N"	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		2	Substitution - coding silent(2)	p.E451E(2)	prostate(1)|kidney(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1351-1353)gaG>gaA		death-domain associated protein							127	100	109					6																	33287900		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287900C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1353G>A	6.37:g.33287900C>T						DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E	p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			5	1557	-			451			Asp/Glu-rich (acidic).|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.1353G>A	CCDS4776.1																																																																																				0.557	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			4	174	0	0	0	1	0	4	174					T	33287900	C	T	33287900	2	4	115	1	0	0	0	0	0	0	0	1	4254	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	3646679	33287900	137827167	57	37243											
IP6K3	117283	broad.mit.edu	37	chr6	33690692	33690692	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggctgcctggggagcctcGtgaggatgcgggctgcctgg	20	10	0	1	rs375114410		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:33690692G>A	ENST00000293756.4	-	6	1364	c.1038C>T	c.(1036-1038)caC>caT	p.H346H	IP6K3_ENST00000451316.1_Silent_p.H346H	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	346					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						GGGGAGCCTCGTGAGGATGCG	0.557																																						ENST00000451316.1																			0				skin(1)	1						c.(1036-1038)caC>caT		inositol hexakisphosphate kinase 3		G	,	0,4406		0,0,2203	80	80	80		1038,1038	3.1	0	6		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	IP6K3	NM_001142883.1,NM_054111.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	346/411,346/411	33690692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690692G>A	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.1038C>T	6.37:g.33690692G>A						IP6K3_ENST00000293756.4_Silent_p.H346H	p.H346H	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN			7	1573	-			346					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.1038C>T	CCDS34435.1																																																																																				0.557	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		5	379	0	0	0	1	0	5	379					A	33690692	G	A	33690692	2	1	115	1	0	0	0	0	0	0	0	1	7820	1136	40	1		1	IP6K3	6	33690692	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	402792	33690692	137424375	58	37244											
STK38	11329	broad.mit.edu	37	chr6	36489591	36489591	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctttcttctgaacaagccGtacctaaaaagttataaaag	5	8	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:36489591G>A	ENST00000229812.7	-	5	595	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	RN7SL748P_ENST00000483066.2_RNA	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						TGAACAAGCCGTACCTAAAAA	0.353																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(310-312)Cgg>Tgg		serine/threonine kinase 38							84	91	89					6																	36489591		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36489591G>A		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.310C>T	6.37:g.36489591G>A	ENSP00000229812:p.Arg104Trp						p.R104W	NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN			5	595	-			104			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.310C>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351134	0.82132	.	.	ENSG00000112079	ENST00000229812	T	0.39406	1.08	5.49	4.56	0.56223	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	0.39809	0.1092	N	0.17474	0.49	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.43475	-0.9389	10	0.87932	D	0	.	14.9777	0.71286	0.0:0.0:0.784:0.216	.	104	Q15208	STK38_HUMAN	W	104	ENSP00000229812:R104W	ENSP00000229812:R104W	R	-	1	2	STK38	36597569	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.289000	0.72696	2.865000	0.98341	0.655000	0.94253	CGG		0.353	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		5	303	0	0	0	1	0	5	303					A	36489591	G	A	36489591	3	1	115	1	0	0	0	0	1	0	0	0	15355	1144	40	1	1127	1	STK38	6	36489591	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2798899	36489591	134625476	59	37245											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	162	0	0	0	1	0	5	162					G	45390466	A	G	45390466	2	3	115	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	8900875	45390466	125724601	60	37246			1	30		2	2	17	N	C_A	8.114232e-05
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	101	0	0	0	1	0	5	101					G	45390482	C	G	45390482	3	3	115	1	0	0	0	0	1	0	0	0	13798	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	16	45390482	125724585	61	37247			1	30		2	2	17	N	C_A	8.114232e-05
RIMS1	22999	broad.mit.edu	37	chr6	73102486	73102486	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accagcccagcttgttggccGccaaacccttgccacccctg	8	19	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:73102486G>A	ENST00000521978.1	+	31	4592	c.4592G>A	c.(4591-4593)cGc>cAc	p.R1531H	RIMS1_ENST00000538414.1_Missense_Mutation_p.R337H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210H|RIMS1_ENST00000517827.1_Missense_Mutation_p.R665H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354H|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851H|RIMS1_ENST00000414192.2_Missense_Mutation_p.R58H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130H|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599H|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656H|RIMS1_ENST00000264839.7_Missense_Mutation_p.R1380H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181H|RIMS1_ENST00000431478.2_3'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1531					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)				CTTGTTGGCCGCCAAACCCTT	0.388																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(4138-4140)cGc>cAc		regulating synaptic membrane exocytosis 1							84	80	81					6																	73102486		1838	4101	5939	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:73102486G>A	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.4592G>A	6.37:g.73102486G>A	ENSP00000428417:p.Arg1531His					RIMS1_ENST00000348717.5_Missense_Mutation_p.R1314H|RIMS1_ENST00000517827.1_Missense_Mutation_p.R665H|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000414192.2_Missense_Mutation_p.R58H|RIMS1_ENST00000538414.1_Missense_Mutation_p.R337H|RIMS1_ENST00000523963.1_Missense_Mutation_p.R656H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1354H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R1130H|RIMS1_ENST00000425662.2_Missense_Mutation_p.R599H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1531H|RIMS1_ENST00000401910.3_Missense_Mutation_p.R851H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1181H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R1210H|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1314H	p.R1380H			Q86UR5	RIMS1_HUMAN			27	4139	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1531			Ser-rich.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.4139G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.433069|5.433069	0.96150|0.96150	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;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;T	.|0.42513	.|0.97;2.14;2.07;2.15;2.35;2.38;2.37;2.02;2.1;2.37;2.29;1.43;2.28;1.74;1.7;1.99	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.65801|0.65801	0.2726|0.2726	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.998;0.985;0.999;1.0;0.999;1.0;0.999;0.999;0.998;1.0;0.998	.|D;D;D;P;D;D;D;D;D;D;D;D;D	.|0.87578	.|0.995;0.991;0.978;0.825;0.988;0.996;0.981;0.998;0.984;0.987;0.939;0.998;0.939	T|T	0.71434|0.71434	-0.4594|-0.4594	5|10	.|0.87932	.|D	.|0	-10.7348|-10.7348	19.3783|19.3783	0.94521|0.94521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|155;337;665;656;1380;851;1130;434;1210;1314;607;1354;1531	.|B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	T|H	449|1354;1380;1354;1314;1210;1130;1380;1314;1210;1181;1130;1531;851;656;599;696;665;579;337;58	.|ENSP00000430101:R1354H;ENSP00000275037:R1314H;ENSP00000264839:R1380H;ENSP00000429959:R1314H;ENSP00000430408:R1210H;ENSP00000430502:R1181H;ENSP00000430932:R1130H;ENSP00000428417:R1531H;ENSP00000385649:R851H;ENSP00000428328:R656H;ENSP00000411235:R599H;ENSP00000389503:R696H;ENSP00000428367:R665H;ENSP00000359448:R579H;ENSP00000439730:R337H;ENSP00000402273:R58H	.|ENSP00000264839:R1380H	A|R	+|+	1|2	0|0	RIMS1|RIMS1	73159207|73159207	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.982000|0.982000	0.71751|0.71751	9.869000|9.869000	0.99810|0.99810	2.582000|2.582000	0.87167|0.87167	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.388	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			5	309	0	0	0	1	0	5	309					A	73102486	G	A	73102486	3	1	115	1	0	0	0	0	1	0	0	0	13417	1087	38	1	4877	1	RIMS1	6	73102486	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	27712004	73102486	98012581	62	37248											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	8	2	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		7	425	0	0	0	1	0	7	425					T	108214765	A	T	108214765	4	4	115	1	0	0	0	0	0	1	0	0	14055	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	35112279	108214765	62900302	63	37249											
GLI3	2737	broad.mit.edu	37	chr7	42005520	42005520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactggccgccctcgggccGcgtgtaattctgaagcacga	14	13	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:42005520G>A	ENST00000395925.3	-	15	3235	c.3151C>T	c.(3151-3153)Cgg>Tgg	p.R1051W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					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						CCCTCGGGCCGCGTGTAATTC	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3151-3153)Cgg>Tgg		GLI family zinc finger 3							43	48	46					7																	42005520		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005520G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3151C>T	7.37:g.42005520G>A	ENSP00000379258:p.Arg1051Trp					GLI3_ENST00000479210.1_5'UTR	p.R1051W	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			15	3235	-			1051					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3151C>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693058	0.68271	.	.	ENSG00000106571	ENST00000395925	T	0.15834	2.39	5.47	5.47	0.80525	.	0.100400	0.64402	D	0.000001	T	0.31513	0.0799	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	T	0.01516	-1.1335	10	0.36615	T	0.2	.	17.5184	0.87780	0.0:0.0:1.0:0.0	.	1051	P10071	GLI3_HUMAN	W	1051	ENSP00000379258:R1051W	ENSP00000379258:R1051W	R	-	1	2	GLI3	41972045	1.000000	0.71417	0.926000	0.36857	0.689000	0.40095	7.435000	0.80391	2.561000	0.86390	0.563000	0.77884	CGG		0.662	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		71	223	0	0	0	1	0	71	223					A	42005520	G	A	42005520	3	1	115	1	0	0	0	0	1	0	0	0	6468	1086	38	1	1595	1	GLI3	7	42005520	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		42005520	117133143	64	37250											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805162	44805162	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagtccctgcccccagCgactaccctggccagggtaa	9	19	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:44805162C>G	ENST00000309315.4	+	16	2349	c.2226C>G	c.(2224-2226)agC>agG	p.S742R	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	742	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCCCCCAGCGACTACCCTG	0.657																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2224-2226)agC>agG		zinc finger, MIZ-type containing 2							12	13	13					7																	44805162		1788	3903	5691	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805162C>G	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.2226C>G	7.37:g.44805162C>G	ENSP00000311778:p.Ser742Arg					ZMIZ2_ENST00000265346.7_Missense_Mutation_p.S716R|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.S742R|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.S710R|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.S684R	p.S742R	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2349	+			742			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2226C>G	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266217	0.40095	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.33865	1.4;1.39;1.39;1.39;1.41	5.14	-0.476	0.12100	.	0.724500	0.13304	N	0.398004	T	0.29914	0.0748	L	0.59436	1.845	0.32588	N	0.527618	B;P;B	0.37141	0.009;0.584;0.409	B;B;B	0.37833	0.017;0.259;0.203	T	0.36237	-0.9756	10	0.39692	T	0.17	-2.9204	5.127	0.14890	0.1374:0.4536:0.0:0.409	.	716;742;684	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	R	684;742;742;710;716;745	ENSP00000409648:S684R;ENSP00000311778:S742R;ENSP00000414723:S742R;ENSP00000396601:S710R;ENSP00000265346:S716R	ENSP00000265346:S716R	S	+	3	2	ZMIZ2	44771687	0.000000	0.05858	0.735000	0.30896	0.987000	0.75469	-2.469000	0.00992	0.016000	0.14998	0.561000	0.74099	AGC		0.657	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		20	100	0	0	0	1	0	20	100					G	44805162	C	G	44805162	3	3	115	1	0	0	0	0	1	0	0	0	17750	767	27	5	2284	5	ZMIZ2	7	44805162	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	2799642	44805162	114333501	65	37251											
PUS7	54517	broad.mit.edu	37	chr7	105122888	105122888	+	Splice_Site	DEL	C	C	-													caagtctttgtgcagttattCtttaaaaaaaaaaaaaaaag							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr7:105122888delC	ENST00000356362.2	-	8	1135		c.e8-1		PUS7_ENST00000469408.1_Splice_Site	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCAGTTATTCTTTaaaaaaa	0.348																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.e8-1		pseudouridylate synthase 7 homolog (S. cerevisiae)							73	77	76					7																	105122888		2203	4300	6503	SO:0001630	splice_region_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105122888delC	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.921-1G>-	7.37:g.105122888delC						PUS7_ENST00000469408.1_Splice_Site		NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			8	1135	-								Q75MG4|Q9NX19	Splice_Site	DEL	ENST00000356362.2	37		CCDS34725.1																																																																																				0.348	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042	Intron	7	579						7	579	---	---	---	---	-	105122888	C	-	105122888	8	5	115	1	0	1	0	1	0	0	1	0	12883	927	32	0	1101	0	PUS7	7	105122888	Splice_Site	DEL	C	TCGA-US-A77G-01A-11D-A32N-08	60317726	105122888	54015775	66	37252											
RP1L1	94137	broad.mit.edu	37	chr8	10480104	10480104	+	Splice_Site	DEL	T	T	-													tcagaccccaacagcctaccTttttcccgctggtcgtgtac							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:10480104delT	ENST00000382483.3	-	2	831	c.608delA	c.(607-609)aag>ag	p.K203fs	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	203	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				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)		ACAGCCTACCTTTTTCCCGCT	0.483																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.e2+1		retinitis pigmentosa 1-like 1							153	142	145					8																	10480104		1893	4128	6021	SO:0001630	splice_region_variant	94137				intracellular signal transduction			g.chr8:10480104delT	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.609+1A>-	8.37:g.10480104delT						RP1L1_ENST00000329335.3_5'UTR	p.K203_splice	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	831	-			203					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Splice_Site	DEL	ENST00000382483.3	37	c.609_splice	CCDS43708.1																																																																																				0.483	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		Frame_Shift_Del	7	1091						7	1091	---	---	---	---	-	10480104	T	-	10480104	8	5	115	1	0	1	0	1	0	0	1	0	13583	1623	56	0	6606	0	RP1L1	8	10480104	Splice_Site	DEL	T	TCGA-US-A77G-01A-11D-A32N-08		10480104	135883918	67	37253											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			8	343						8	343	---	---	---	---	-	30945379	AAG	-	30945377	7	5	115	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-US-A77G-01A-11D-A32N-08	20465273	30945377	115418645	68	37254											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	116	0	0	0	1	0	11	116					G	41790659	T	G	41790659	2	3	115	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-US-A77G-01A-11D-A32N-08	10845282	41790659	104573363	69	37255											
ARFGEF1	10565	broad.mit.edu	37	chr8	68170031	68170031	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaacataagctgtatccGcactagcaaagagagtttgt	8	9	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:68170031G>A	ENST00000262215.3	-	17	2851	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A275V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	821	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGCTGTATCCGCACTAGCAAA	0.328																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2461-2463)gCg>gTg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							115	117	116					8																	68170031		2203	4299	6502	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68170031G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2462C>T	8.37:g.68170031G>A	ENSP00000262215:p.Ala821Val					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A275V	p.A821V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		17	2851	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	821			SEC7.		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2462C>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351328	0.95830	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.56611	0.45;0.45	5.2	5.2	0.72013	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.78207	0.4247	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82959	-0.0198	10	0.87932	D	0	.	18.7643	0.91866	0.0:0.0:1.0:0.0	.	821;275	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	V	275;821	ENSP00000428429:A275V;ENSP00000262215:A821V	ENSP00000262215:A821V	A	-	2	0	ARFGEF1	68332585	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.420000	0.82092	0.563000	0.77884	GCG		0.328	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		5	518	0	0	0	1	0	5	518					A	68170031	G	A	68170031	3	1	115	1	0	0	0	0	1	0	0	0	852	1087	38	1	3179	1	ARFGEF1	8	68170031	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	26379372	68170031	78193991	70	37256											
SCRIB	23513	broad.mit.edu	37	chr8	144896264	144896264	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcgctcaggcccagcttgcGcaagttcagcagccggaaaa	12	13	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:144896264G>A	ENST00000320476.3	-	2	190	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	SCRIB_ENST00000377533.3_5'UTR|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.R62C|PUF60_ENST00000524570.1_5'Flank	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	62	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)			CCCAGCTTGCGCAAGTTCAGC	0.617																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(184-186)Cgc>Tgc		scribbled planar cell polarity protein							46	38	41					8																	144896264		2171	4268	6439	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144896264G>A	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.184C>T	8.37:g.144896264G>A	ENSP00000322938:p.Arg62Cys					SCRIB_ENST00000377533.3_5'UTR|SCRIB_ENST00000320476.3_Missense_Mutation_p.R62C	p.R62C	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		2	190	-	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)		62			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.184C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873069	0.51695	.	.	ENSG00000180900	ENST00000356994;ENST00000320476	T;T	0.58940	0.3;0.3	4.49	-0.207	0.13189	.	.	.	.	.	T	0.74222	0.3688	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.77180	-0.2682	9	0.87932	D	0	.	13.3897	0.60816	0.0:0.0:0.392:0.608	.	62;62	Q14160;Q14160-3	SCRIB_HUMAN;.	C	62	ENSP00000349486:R62C;ENSP00000322938:R62C	ENSP00000322938:R62C	R	-	1	0	SCRIB	144968252	1.000000	0.71417	0.263000	0.24496	0.577000	0.36160	2.833000	0.48159	0.094000	0.17404	-0.182000	0.12963	CGC		0.617	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		8	26	0	0	0	1	0	8	26					A	144896264	G	A	144896264	3	1	115	1	0	0	0	0	1	0	0	0	13987	1087	38	1	4927	1	SCRIB	8	144896264	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	76726233	144896264	1467758	71	37257											
SLC39A4	55630	broad.mit.edu	37	chr8	145637952	145637954	+	In_Frame_Del	DEL	CAG	CAG	-													atgtcatcctcgtacagggaCagcagcagcaggacggtcca							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr8:145637952_145637954delCAG	ENST00000301305.3	-	12	2017_2019	c.1912_1914delCTG	c.(1912-1914)ctgdel	p.L638del	SLC39A4_ENST00000276833.5_In_Frame_Del_p.L613del|SLC39A4_ENST00000531013.1_5'UTR|GS1-393G12.14_ENST00000607491.1_RNA	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	638					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGTACAGGGACAGCAGCAGCAGG	0.601																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1837-1839)del		solute carrier family 39 (zinc transporter), member 4																																				SO:0001651	inframe_deletion	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145637952_145637954delCAG	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1912_1914delCTG	8.37:g.145637961_145637963delCAG	ENSP00000301305:p.Leu638del					SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del	p.L613del	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		11	2140_2142	-	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)		638					Q7L5S5|Q9H6T8|Q9NXC4	In_Frame_Del	DEL	ENST00000301305.3	37	c.1837_1839delCTG	CCDS6424.1																																																																																				0.601	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			7	868						7	868	---	---	---	---	-	145637954	CAG	-	145637952	7	5	115	1	0	1	0	1	0	0	0	0	14670	465	17	0	33	0	SLC39A4	8	145637952	In_Frame_Del	DEL	CAG	TCGA-US-A77G-01A-11D-A32N-08	741688	145637952	726070	72	37258											
CDKN2A	1029	broad.mit.edu	37	chr9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaccctctacccacctGgatcggcctccgaccgtaac	8	18	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2). {ECO:0000269|PubMed:8595405}.		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.?(25)|p.Q50*(4)|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)		CTACCCACCTGGATCGGCCTC	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1346	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(4)|Deletion - In frame(1)	p.0?(1315)|p.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|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)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM023895	CDKN2A	M		c.(148-150)Cag>Tag		cyclin-dependent kinase inhibitor 2A							86	102	96					9																	21974679		2203	4300	6503	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974679G>A	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.148C>T	9.37:g.21974679G>A	ENSP00000307101:p.Gln50*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000498628.2_Intron	p.Q50*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	418	-		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)	50		Q -> R (in CMM2).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.148C>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216266	0.79352	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	17.3226	0.87240	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000307101:Q50X	Q	-	1	0	CDKN2A	21964679	1.000000	0.71417	0.998000	0.56505	0.129000	0.20672	5.147000	0.64851	2.681000	0.91329	0.655000	0.94253	CAG		0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		226	656	0	0	0	1	0	226	656					A	21974679	G	A	21974679	4	1	115	1	0	0	0	0	0	1	0	0	3170	1357	47	2	535	2	CDKN2A	9	21974679	Nonsense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		21974679	119238752	73	37259											
TJP2	9414	broad.mit.edu	37	chr9	71866162	71866162	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaggtgggagagagcaGtgaggagcaagataatgctc	18	4	0	4			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:71866162G>C	ENST00000377245.4	+	21	3411	c.3203G>C	c.(3202-3204)aGt>aCt	p.S1068T	TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000539225.1_Missense_Mutation_p.S1099T|TJP2_ENST00000453658.2_Intron	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1068					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						GGAGAGAGCAGTGAGGAGCAA	0.512																																						ENST00000377245.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(3202-3204)aGt>aCt		tight junction protein 2							81	76	78					9																	71866162		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71866162G>C	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.3203G>C	9.37:g.71866162G>C	ENSP00000366453:p.Ser1068Thr					TJP2_ENST00000535702.1_Missense_Mutation_p.S1035T|TJP2_ENST00000539225.1_Missense_Mutation_p.S1099T|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000348208.4_Intron	p.S1068T	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN			21	3411	+			1068					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.3203G>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	3.985	-0.005558	0.07773	.	.	ENSG00000119139	ENST00000377245;ENST00000535702;ENST00000539225	T;T;T	0.08634	3.08;3.07;3.13	6.17	-1.69	0.08186	.	0.777732	0.12506	N	0.462854	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.43048	-0.9415	10	0.22109	T	0.4	.	0.2337	0.00183	0.244:0.2391:0.234:0.2829	.	1099;1035;1068	F5H301;F5H886;Q9UDY2	.;.;ZO2_HUMAN	T	1068;1035;1099	ENSP00000366453:S1068T;ENSP00000442090:S1035T;ENSP00000438262:S1099T	ENSP00000366453:S1068T	S	+	2	0	TJP2	71055982	0.000000	0.05858	0.003000	0.11579	0.337000	0.28794	-0.333000	0.07894	-0.348000	0.08286	-0.176000	0.13171	AGT		0.512	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		4	294	0	0	0	1	0	4	294					C	71866162	G	C	71866162	3	2	115	1	0	0	0	0	1	0	0	0	15982	1029	36	5	3544	5	TJP2	9	71866162	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	49891483	71866162	69347269	74	37260											
ASTN2	23245	broad.mit.edu	37	chr9	119568096	119568096	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagtttgtactcctccacGcaactgtatgataaaacaga	7	11	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:119568096G>A	ENST00000313400.4	-	13	2311	c.2211C>T	c.(2209-2211)tgC>tgT	p.C737C	ASTN2_ENST00000361209.2_Silent_p.C686C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.C733C			O75129	ASTN2_HUMAN	astrotactin 2	737	EGF-like 3.				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						ACTCCTCCACGCAACTGTATG	0.488																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(2209-2211)tgC>tgT		astrotactin 2							110	107	108					9																	119568096		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119568096G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2211C>T	9.37:g.119568096G>A						ASTN2_ENST00000373996.3_Silent_p.C733C|ASTN2_ENST00000361209.2_Silent_p.C686C|ASTN2_ENST00000361477.3_5'UTR	p.C737C			O75129	ASTN2_HUMAN			13	2311	-			737			EGF-like 3.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.2211C>T																																																																																					0.488	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		5	491	0	0	0	1	0	5	491					A	119568096	G	A	119568096	2	1	115	1	0	0	0	0	0	0	0	1	1066	1079	38	1		1	ASTN2	9	119568096	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	47701934	119568096	21645335	75	37261											
LHX2	9355	broad.mit.edu	37	chr9	126776246	126776246	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccttcgcagaccatgCcgtccatcagcagtgaccgc	8	19	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr9:126776246C>T	ENST00000373615.4	+	2	866	c.127C>T	c.(127-129)Ccg>Tcg	p.P43S	RP11-85O21.4_ENST00000421041.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	43					axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						GCAGACCATGCCGTCCATCAG	0.701																																						ENST00000373615.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						c.(127-129)Ccg>Tcg		LIM homeobox 2							30	32	31					9																	126776246		2201	4298	6499	SO:0001583	missense	9355					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:126776246C>T	U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"Homeoboxes / LIM class"	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.127C>T	9.37:g.126776246C>T	ENSP00000362717:p.Pro43Ser						p.P43S	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN			2	866	+			43					O95860|Q52M57|Q8N1Z3	Missense_Mutation	SNP	ENST00000373615.4	37	c.127C>T	CCDS6853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.325460|5.325460	0.95708|0.95708	.|.	.|.	ENSG00000106689|ENSG00000106689	ENST00000446480|ENST00000373615	.|D	.|0.83914	.|-1.78	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.116041	.|0.64402	.|D	.|0.000015	D|D	0.84160|0.84160	0.5411|0.5411	M|M	0.73598|0.73598	2.24|2.24	0.54753|0.54753	D|D	0.999984|0.999984	.|B;B	.|0.24721	.|0.11;0.029	.|B;B	.|0.25884	.|0.064;0.016	T|T	0.80181|0.80181	-0.1489|-0.1489	5|10	.|0.42905	.|T	.|0.14	.|.	18.8766|18.8766	0.92338|0.92338	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|43;43	.|B3KNJ5;P50458	.|.;LHX2_HUMAN	V|S	40|43	.|ENSP00000362717:P43S	.|ENSP00000362717:P43S	A|P	+|+	2|1	0|0	LHX2|LHX2	125816067|125816067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.803000|7.803000	0.85983|0.85983	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.701	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054010.2			5	267	0	0	0	1	0	5	267					T	126776246	C	T	126776246	3	4	115	1	0	0	0	0	1	0	0	0	8803	739	26	2	133	2	LHX2	9	126776246	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	7208150	126776246	14437185	76	37262											
PKD2L1	9033	broad.mit.edu	37	chr10	102056026	102056026	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcgagggttcggaatatgtgGaagcccacagccacaatgga	13	9	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr10:102056026G>A	ENST00000318222.3	-	7	1591	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	PKD2L1_ENST00000353274.3_Silent_p.F403F|PKD2L1_ENST00000338519.3_Silent_p.F328F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	403					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGAATATGTGGAAGCCCACAG	0.567																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1207-1209)ttC>ttT		polycystic kidney disease 2-like 1							51	49	50					10																	102056026		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102056026G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1209C>T	10.37:g.102056026G>A						PKD2L1_ENST00000338519.3_Silent_p.F328F|PKD2L1_ENST00000353274.3_Silent_p.F403F	p.F403F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	7	1591	-		Colorectal(252;0.117)	403					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1209C>T	CCDS7492.1																																																																																				0.567	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		51	189	0	0	0	1	0	51	189					A	102056026	G	A	102056026	2	1	115	1	0	0	0	0	0	0	0	1	12009	1165	41	2		2	PKD2L1	10	102056026	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		102056026	33478721	77	37263											
KCNQ1	3784	broad.mit.edu	37	chr11	2549217	2549217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccatcgagcagtatgCcgccctggccacggggactc	12	16	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:2549217C>T	ENST00000155840.5	+	2	554	c.446C>T	c.(445-447)gCc>gTc	p.A149V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A22V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	149					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)	GAGCAGTATGCCGCCCTGGCC	0.612																																						ENST00000155840.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21						c.(445-447)gCc>gTc		potassium voltage-gated channel, KQT-like subfamily, member 1	Bepridil(DB01244)|Indapamide(DB00808)						226	161	183					11																	2549217		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2549217C>T	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.446C>T	11.37:g.2549217C>T	ENSP00000155840:p.Ala149Val					KCNQ1_ENST00000335475.5_Missense_Mutation_p.A22V	p.A149V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	2	554	+		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)	149					O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.446C>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555341	0.45487	.	.	ENSG00000053918	ENST00000496887;ENST00000155840;ENST00000335475	D;D;D	0.97480	-4.4;-4.4;-4.4	4.46	0.133	0.14766	.	0.507512	0.19967	N	0.102064	D	0.90920	0.7146	N	0.17082	0.46	0.28911	N	0.892704	B;B	0.02656	0.0;0.0	B;B	0.12156	0.001;0.007	D	0.83863	0.0269	10	0.41790	T	0.15	-21.1294	7.0745	0.25197	0.0:0.5348:0.0:0.4652	.	22;149	Q14D14;P51787	.;KCNQ1_HUMAN	V	62;149;22	ENSP00000434560:A62V;ENSP00000155840:A149V;ENSP00000334497:A22V	ENSP00000155840:A149V	A	+	2	0	KCNQ1	2505793	0.258000	0.24033	0.523000	0.27875	0.964000	0.63967	0.646000	0.24797	0.070000	0.16634	0.561000	0.74099	GCC		0.612	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		5	552	0	0	0	1	0	5	552					T	2549217	C	T	2549217	3	4	115	1	0	0	0	0	1	0	0	0	8112	739	26	2	461	2	KCNQ1	11	2549217	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		2549217	132457299	78	37264											
OR51A7	119687	broad.mit.edu	37	chr11	4929119	4929119	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatattgtcaaaagaatcttCtttctcactcatactgtctt	3	9	6	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:4929119C>T	ENST00000359350.4	+	1	520	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	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	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGAATCTTCTTTCTCACTC	0.388																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(520-522)Ctt>Ttt		olfactory receptor, family 51, subfamily A, member 7							137	124	128					11																	4929119		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929119C>T	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.520C>T	11.37:g.4929119C>T	ENSP00000352305:p.Leu174Phe					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.L174F	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	520	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	174					Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.520C>T	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234429	0.58886	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.38240	1.15	5.02	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	D	0.000741	T	0.63010	0.2475	M	0.90922	3.16	0.21604	N	0.999623	D	0.89917	1.0	D	0.97110	1.0	T	0.57900	-0.7731	10	0.87932	D	0	.	7.8969	0.29712	0.1585:0.757:0.0:0.0845	.	174	Q8NH64	O51A7_HUMAN	F	174;174;163	ENSP00000352305:L174F	ENSP00000352305:L174F	L	+	1	0	OR51A7	4885695	0.004000	0.15560	0.995000	0.50966	0.955000	0.61496	0.280000	0.18790	2.596000	0.87737	0.655000	0.94253	CTT		0.388	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		5	388	0	0	0	1	0	5	388					T	4929119	C	T	4929119	3	4	115	1	0	0	0	0	1	0	0	0	11130	913	32	2	522	2	OR51A7	11	4929119	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	2379902	4929119	130077397	79	37265											
MMP26	56547	broad.mit.edu	37	chr11	5009493	5009493	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcttgccctggtgtttcgccGttccagtgccccctgctgca	10	16	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:5009493G>A	ENST00000380390.1	+	2	268	c.52G>A	c.(52-54)Gtt>Att	p.V18I	MMP26_ENST00000300762.1_Missense_Mutation_p.V18I|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	18					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)	GTGTTTCGCCGTTCCAGTGCC	0.493																																						ENST00000380390.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22						c.(52-54)Gtt>Att		matrix metallopeptidase 26							271	216	235					11																	5009493		2201	4298	6499	SO:0001583	missense	56547				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:5009493G>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.52G>A	11.37:g.5009493G>A	ENSP00000369753:p.Val18Ile					MMP26_ENST00000300762.1_Missense_Mutation_p.V18I|MMP26_ENST00000477339.1_Intron	p.V18I			Q9NRE1	MMP26_HUMAN		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	2	268	+		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)	18					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.52G>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	g	3.577	-0.086437	0.07097	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.26067	1.76;1.76	3.3	-6.6	0.01824	.	0.975329	0.08322	N	0.963623	T	0.06872	0.0175	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.35671	T	0.21	0.1393	2.2024	0.03927	0.2392:0.4375:0.1215:0.2018	.	18	Q9NRE1	MMP26_HUMAN	I	18	ENSP00000369753:V18I;ENSP00000300762:V18I	ENSP00000300762:V18I	V	+	1	0	MMP26	4966069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.164000	0.01275	-2.497000	0.00513	-4.594000	0.00004	GTT		0.493	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		7	683	0	0	0	1	0	7	683					A	5009493	G	A	5009493	3	1	115	1	0	0	0	0	1	0	0	0	9704	1145	40	1	54	1	MMP26	11	5009493	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	80374	5009493	129997023	80	37266											
HPX	3263	broad.mit.edu	37	chr11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccagggcagataaaggccGcatccacagagtccaggata	11	12	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1084-1086)gCg>gTg		hemopexin							76	78	78					11																	6452915		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452915G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1085C>T	11.37:g.6452915G>A	ENSP00000265983:p.Ala362Val						p.A362V	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	9	1185	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	362					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1085C>T	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336128	0.81801	.	.	ENSG00000110169	ENST00000265983	T	0.20200	2.09	5.62	5.62	0.85841	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.54463	-0.8290	10	0.87932	D	0	-12.4094	17.1339	0.86734	0.0:0.0:1.0:0.0	.	362	P02790	HEMO_HUMAN	V	362	ENSP00000265983:A362V	ENSP00000265983:A362V	A	-	2	0	HPX	6409491	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	6.271000	0.72569	2.656000	0.90262	0.561000	0.74099	GCG		0.557	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		5	523	0	0	0	1	0	5	523					A	6452915	G	A	6452915	3	1	115	1	0	0	0	0	1	0	0	0	7376	1087	38	1	311	1	HPX	11	6452915	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1443422	6452915	128553601	81	37267											
CHST1	8534	broad.mit.edu	37	chr11	45671609	45671609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccttgagccacgggggccGcatgaggccggtggacacgg	18	13	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:45671609G>A	ENST00000308064.2	-	4	1535	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	289					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CACGGGGGCCGCATGAGGCCG	0.617																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(865-867)Cgg>Tgg		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							87	77	80					11																	45671609		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671609G>A	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.865C>T	11.37:g.45671609G>A	ENSP00000309270:p.Arg289Trp						p.R289W	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1535	-			289					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.865C>T	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821565	0.71028	.	.	ENSG00000175264	ENST00000308064	T	0.76316	-1.01	4.89	4.89	0.63831	Sulfotransferase domain (1);	0.062547	0.64402	D	0.000005	D	0.86422	0.5929	M	0.67953	2.075	0.58432	D	0.999998	D	0.89917	1.0	D	0.70935	0.971	D	0.85721	0.1325	10	0.37606	T	0.19	-19.3412	18.0436	0.89326	0.0:0.0:1.0:0.0	.	289	O43916	CHST1_HUMAN	W	289	ENSP00000309270:R289W	ENSP00000309270:R289W	R	-	1	2	CHST1	45628185	1.000000	0.71417	0.850000	0.33497	0.988000	0.76386	5.503000	0.66962	2.252000	0.74401	0.462000	0.41574	CGG		0.617	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		5	553	0	0	0	1	0	5	553					A	45671609	G	A	45671609	3	1	115	1	0	0	0	0	1	0	0	0	3406	1086	38	1	374	1	CHST1	11	45671609	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	39218694	45671609	89334907	82	37268											
YIF1A	10897	broad.mit.edu	37	chr11	66055346	66055346	+	Frame_Shift_Del	DEL	A	A	-													acgtaggctgtgtccacagcAaaaaaatacttgagtttgct							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:66055346delA	ENST00000376901.4	-	3	469	c.285delT	c.(283-285)tttfs	p.F95fs	YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000496746.1_5'Flank|YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.F95fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	95					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 transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGTCCACAGCAAAAAAATACT	0.592																																						ENST00000376901.4																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(283-285)ttfs		Yip1 interacting factor homolog A (S. cerevisiae)							121	128	126					11																	66055346		2200	4295	6495	SO:0001589	frameshift_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66055346delA	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"Yip1 interacting factor homolog (S. cerevisiae)"	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.285delT	11.37:g.66055346delA	ENSP00000366098:p.Phe95fs					YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000359461.6_Frame_Shift_Del_p.F95fs	p.F95fs	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN			3	469	-			95					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Del	DEL	ENST00000376901.4	37	c.285delT	CCDS8132.1																																																																																				0.592	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		7	1038						7	1038	---	---	---	---	-	66055346	A	-	66055346	7	5	115	1	0	1	0	1	0	0	0	0	17529	127	5	0	620	0	YIF1A	11	66055346	Frame_Shift_Del	DEL	A	TCGA-US-A77G-01A-11D-A32N-08	20383737	66055346	68951170	83	37269											
TAF1D	79101	broad.mit.edu	37	chr11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-													gctggtacctcctctttttcTtttttttatatctctttttc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)aagfs	p.K96fs	TAF1D_ENST00000546088.1_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348																																						ENST00000448108.2																			0				large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						c.(280-282)agfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa							109	116	114					11																	93471453		2201	4298	6499	SO:0001589	frameshift_variant	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93471453delT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"Josephin domain containing 3"	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.281delA	11.37:g.93471453delT	ENSP00000410409:p.Lys96fs						p.K96fs	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN			3	931	-			96					Q6I9Y6	Frame_Shift_Del	DEL	ENST00000448108.2	37	c.281delA	CCDS8293.1																																																																																				0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		9	788						9	788	---	---	---	---	-	93471453	T	-	93471453	7	5	115	1	0	1	0	1	0	0	0	0	15574	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	27416107	93471453	41535063	84	37270											
TRPC6	7225	broad.mit.edu	37	chr11	101375398	101375398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attcagctgcatccaaaaagCgttcctcctctatagatagg	7	11	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:101375398C>T	ENST00000344327.3	-	2	726	c.302G>A	c.(301-303)cGc>cAc	p.R101H	TRPC6_ENST00000532133.1_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H|TRPC6_ENST00000526713.1_5'Flank	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	101					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)		ATCCAAAAAGCGTTCCTCCTC	0.483																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(301-303)cGc>cAc		transient receptor potential cation channel, subfamily C, member 6							152	148	149					11																	101375398		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101375398C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.302G>A	11.37:g.101375398C>T	ENSP00000340913:p.Arg101His					TRPC6_ENST00000532133.1_Missense_Mutation_p.R101H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R101H|TRPC6_ENST00000348423.4_Missense_Mutation_p.R101H	p.R101H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	2	726	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	101					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.302G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839593	0.51057	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.80393	-1.17;-1.26;-1.09;-1.37	5.87	5.87	0.94306	.	0.096864	0.64402	D	0.000001	D	0.87577	0.6212	L	0.47190	1.495	0.54753	D	0.999989	B;D;B	0.89917	0.37;1.0;0.128	B;D;B	0.91635	0.087;0.999;0.018	D	0.86300	0.1679	10	0.48119	T	0.1	-6.1692	20.206	0.98277	0.0:1.0:0.0:0.0	.	101;101;101	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	H	101	ENSP00000340913:R101H;ENSP00000435574:R101H;ENSP00000343672:R101H;ENSP00000353687:R101H	ENSP00000340913:R101H	R	-	2	0	TRPC6	100880608	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.915000	0.56409	2.785000	0.95823	0.655000	0.94253	CGC		0.483	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		125	532	0	0	0	1	0	125	532					T	101375398	C	T	101375398	3	4	115	1	0	0	0	0	1	0	0	0	16636	768	27	1	2541	1	TRPC6	11	101375398	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	7903945	101375398	33631118	85	37271											
DSCAML1	57453	broad.mit.edu	37	chr11	117651507	117651507	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttacaaagtagaggctggtgCcaacatcttcagggcgggct	13	9	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr11:117651507C>T	ENST00000321322.6	-	2	246	c.245G>A	c.(244-246)gGc>gAc	p.G82D	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G22D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	22	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)		GAGGCTGGTGCCAACATCTTC	0.612																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(244-246)gGc>gAc		Down syndrome cell adhesion molecule like 1							10	9	10					11																	117651507		2161	4209	6370	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117651507C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.245G>A	11.37:g.117651507C>T	ENSP00000315465:p.Gly82Asp					DSCAML1_ENST00000527706.1_Missense_Mutation_p.G22D	p.G82D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	2	246	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	22			Ig-like C2-type 1.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.245G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374942	0.42105	.	.	ENSG00000177103	ENST00000527706;ENST00000321322	T;T	0.61158	0.13;0.24	5.1	5.1	0.69264	Immunoglobulin-like (1);	.	.	.	.	T	0.38241	0.1033	N	0.08118	0	0.51482	D	0.99992	B	0.26002	0.139	B	0.24701	0.055	T	0.26849	-1.0091	9	0.11182	T	0.66	.	18.9124	0.92491	0.0:1.0:0.0:0.0	.	22	Q8TD84	DSCL1_HUMAN	D	22;82	ENSP00000434335:G22D;ENSP00000315465:G82D	ENSP00000315465:G82D	G	-	2	0	DSCAML1	117156717	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.439000	0.44846	2.536000	0.85505	0.563000	0.77884	GGC		0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		19	34	0	0	0	1	0	19	34					T	117651507	C	T	117651507	3	4	115	1	0	0	0	0	1	0	0	0	4785	739	26	2	6224	2	DSCAML1	11	117651507	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	16276109	117651507	17355009	86	37272											
B4GALNT3	283358	broad.mit.edu	37	chr12	667679	667679	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacatctgtccccaggacccGcacagcatcatcttcctctg	6	18	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:667679G>A	ENST00000266383.5	+	18	2626	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAGGACCCGCACAGCATCA	0.587																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2611-2613)ccG>ccA		beta-1,4-N-acetyl-galactosaminyl transferase 3							174	150	158					12																	667679		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667679G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2613G>A	12.37:g.667679G>A							p.P871P	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2626	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		871					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2613G>A	CCDS8504.1																																																																																				0.587	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		6	900	0	0	0	1	0	6	900					A	667679	G	A	667679	2	1	115	1	0	0	0	0	0	0	0	1	1269	1074	38	1		1	B4GALNT3	12	667679	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		667679	133184216	87	37273											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C													acaagatcggaggccgtagtINSttattgtggtgctggaaggg					rs11428482|rs374779752|rs17857448		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"EMG1 nucleolar protein homolog (S. cerevisiae)"			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	11	75						11	75	---	---	---	---	C	7080213	-	C	7080212	8	5	115	1	0	1	1	0	0	0	1	0	5108	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-US-A77G-01A-11D-A32N-08	6412533	7080212	126771683	88	37274											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		19	93	0	0	0	1	0	19	93					G	25398285	C	G	25398285	3	3	115	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	18318073	25398285	108453610	89	37275											
ACCN2	41	broad.mit.edu	37	chr12	50452565	50452567	+	In_Frame_Del	DEL	GAG	GAG	-													caaggatggaactgaaggccGaggaggaggaggtgggtggc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:50452565_50452567delGAG	ENST00000447966.2	+	2	245_247	c.16_18delGAG	c.(16-18)gagdel	p.E9del	ASIC1_ENST00000228468.4_In_Frame_Del_p.E9del	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	9					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)	ACTGAAGGCCGAGGAGGAGGAGG	0.616																																						ENST00000228468.4																			0											c.(16-18)del		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001651	inframe_deletion	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452565_50452567delGAG	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.16_18delGAG	12.37:g.50452574_50452576delGAG	ENSP00000400228:p.Glu9del					ASIC1_ENST00000447966.2_In_Frame_Del_p.E9del	p.E9del	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			2	401_403	+			9					A3KN86|E5KBL7|P78349|Q96CV2	In_Frame_Del	DEL	ENST00000447966.2	37	c.16_18delGAG	CCDS44876.1																																																																																				0.616	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	502						7	502	---	---	---	---	-	50452567	GAG	-	50452565	7	5	115	1	0	1	0	1	0	0	0	0	129	1059	37	0	18	0	ACCN2	12	50452565	In_Frame_Del	DEL	GAG	TCGA-US-A77G-01A-11D-A32N-08	25054280	50452565	83399330	90	37276											
ANKRD33	341405	broad.mit.edu	37	chr12	52282494	52282494	+	5'UTR	DEL	G	G	-													cccaccccaggctgcaggctGggggccctgtattgggcctg							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:52282494delG	ENST00000340970.4	+	0	258				ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000301190.6_Frame_Shift_Del_p.L96fs			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCTGCAGGCTGGGGGCCCTGT	0.647																																						ENST00000301190.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(286-288)ctfs		ankyrin repeat domain 33			,	18,4242		8,2,2120	43	50	48		,	0.5	0.2	12		48	35,8215		16,3,4106	no	frameshift,utr-5	ANKRD33	NM_182608.3,NM_001130015.1	,	24,5,6226	A1A1,A1R,RR		0.4242,0.4225,0.4237	,	,	52282494	53,12457	2202	4300	6502	SO:0001623	5_prime_UTR_variant	341405							g.chr12:52282494delG		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.-114G>-	12.37:g.52282494delG						ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_5'UTR	p.L96fs	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	2	515	+			0					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Frame_Shift_Del	DEL	ENST00000340970.4	37	c.288delG	CCDS44892.1																																																																																				0.647	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608		7	470						7	470	---	---	---	---	-	52282494	G	-	52282494	6	5	115	0	1	1	0	1	0	0	0	0	661	1335	47	0		0	ANKRD33	12	52282494	5'UTR	DEL	G	TCGA-US-A77G-01A-11D-A32N-08	1829929	52282494	81569401	91	37277											
SPRYD3	84926	broad.mit.edu	37	chr12	53462066	53462066	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacatccacgatgcttttgCccttccctaagtactccagc	5	17	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:53462066C>T	ENST00000301463.4	-	7	802	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.G276D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	239										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GATGCTTTTGCCCTTCCCTAA	0.637																																						ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(715-717)gGc>gAc		SPRY domain containing 3							101	101	101					12																	53462066		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53462066C>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.716G>A	12.37:g.53462066C>T	ENSP00000301463:p.Gly239Asp					SPRYD3_ENST00000547837.1_Missense_Mutation_p.G276D	p.G239D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN			7	802	-			239					B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.716G>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152619	0.94645	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.67363	0.2885	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.67345	-0.5694	9	0.48119	T	0.1	.	16.5377	0.84377	0.0:1.0:0.0:0.0	.	239	Q8NCJ5	SPRY3_HUMAN	D	239;276	.	ENSP00000301463:G239D	G	-	2	0	SPRYD3	51748333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.218000	0.77991	2.575000	0.86900	0.561000	0.74099	GGC		0.637	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		6	857	0	0	0	1	0	6	857					T	53462066	C	T	53462066	3	4	115	1	0	0	0	0	1	0	0	0	15161	739	26	2	632	2	SPRYD3	12	53462066	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	1179572	53462066	80389829	92	37278											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917197	54917197	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttctacctaagcactgtgCcactacaatcagcaaagcca	6	14	2	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:54917197C>T	ENST00000293373.6	+	19	1977	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	633					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						AAGCACTGTGCCACTACAATC	0.473																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1897-1899)gCc>gTc		NCK-associated protein 1-like							164	173	170					12																	54917197		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917197C>T	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.1898C>T	12.37:g.54917197C>T	ENSP00000293373:p.Ala633Val					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A583V	p.A633V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			19	1977	+			633					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1898C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701576	0.88924	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.39787	1.06;1.06	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.57814	-0.7746	10	0.36615	T	0.2	-15.2108	16.9443	0.86226	0.0:1.0:0.0:0.0	.	633	P55160	NCKPL_HUMAN	V	633;583	ENSP00000293373:A633V;ENSP00000445596:A583V	ENSP00000293373:A633V	A	+	2	0	NCKAP1L	53203464	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.491000	0.81471	2.673000	0.90976	0.655000	0.94253	GCC		0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	875	0	0	0	1	0	6	875					T	54917197	C	T	54917197	3	4	115	1	0	0	0	0	1	0	0	0	10264	739	26	2	1972	2	NCKAP1L	12	54917197	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	1455131	54917197	78934698	93	37279											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868253	57868253	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcccatcggaggtgaccGcacgctctgcaacatgaatg	10	14	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:57868253G>A	ENST00000356411.2	-	15	1931	c.1793C>T	c.(1792-1794)gCg>gTg	p.A598V	ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.A669V|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.A395V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A579V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A579V|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A658V			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	598	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGAGGTGACCGCACGCTCTGC	0.517																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2005-2007)gCg>gTg		Rho GTPase activating protein 9							87	73	78					12																	57868253		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868253G>A	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.1793C>T	12.37:g.57868253G>A	ENSP00000348782:p.Ala598Val					ARHGAP9_ENST00000356411.2_Missense_Mutation_p.A598V|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.A579V|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.A579V|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.A658V|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.A395V	p.A669V			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		18	2198	-			598			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2006C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.68|19.68	3.873016|3.873016	0.72180|0.72180	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041|ENST00000550399	T;T;T;T;T|.	0.19669|.	2.13;2.13;2.13;2.13;2.13|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.075671|.	0.48286|.	D|.	0.000194|.	T|T	0.61565|0.61565	0.2357|0.2357	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999992|0.999992	P;P;P;P;D|.	0.59767|.	0.934;0.837;0.758;0.934;0.986|.	P;B;B;P;P|.	0.54965|.	0.457;0.272;0.328;0.535;0.765|.	T|T	0.55854|0.55854	-0.8075|-0.8075	10|5	0.59425|.	D|.	0.04|.	.|.	15.8782|15.8782	0.79182|0.79182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	658;598;579;579;395|.	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3|.	.;RHG09_HUMAN;.;.;.|.	V|W	579;598;249;579;669;628;395|49	ENSP00000377380:A579V;ENSP00000348782:A598V;ENSP00000394307:A579V;ENSP00000377386:A669V;ENSP00000397950:A395V|.	ENSP00000344852:A628V|.	A|R	-|-	2|1	0|2	ARHGAP9|ARHGAP9	56154520|56154520	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.245000|0.245000	0.25701|0.25701	5.408000|5.408000	0.66368|0.66368	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		4	223	0	0	0	1	0	4	223					A	57868253	G	A	57868253	3	1	115	1	0	0	0	0	1	0	0	0	889	1087	38	1	475	1	ARHGAP9	12	57868253	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2951056	57868253	75983642	94	37280											
MON2	23041	broad.mit.edu	37	chr12	62936898	62936898	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccatctctttttgctgttGccaaattgttagaaactggt	7	8	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:62936898G>T	ENST00000393632.2	+	20	2777	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	MON2_ENST00000546600.1_Missense_Mutation_p.A796S|MON2_ENST00000280379.6_Missense_Mutation_p.A796S|MON2_ENST00000552738.1_Missense_Mutation_p.A773S|MON2_ENST00000393630.3_Missense_Mutation_p.A796S|MON2_ENST00000552115.1_Missense_Mutation_p.A796S|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000393629.2_Missense_Mutation_p.A796S	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	796					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)		TTTTGCTGTTGCCAAATTGTT	0.333																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(2386-2388)Gcc>Tcc		MON2 homolog (S. cerevisiae)							97	99	98					12																	62936898		2203	4299	6502	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62936898G>T		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.2386G>T	12.37:g.62936898G>T	ENSP00000377252:p.Ala796Ser					MON2_ENST00000280379.6_Missense_Mutation_p.A796S|MON2_ENST00000393629.2_Missense_Mutation_p.A796S|MON2_ENST00000552738.1_Missense_Mutation_p.A773S|MON2_ENST00000552115.1_Missense_Mutation_p.A796S|MON2_ENST00000393632.2_Missense_Mutation_p.A796S|MON2_ENST00000546600.1_Missense_Mutation_p.A796S	p.A796S	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	20	2777	+			796					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.2386G>T	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504466	0.96371	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;1.56	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.41236	1.265	0.80722	D	1	D;D;P;D	0.71674	0.987;0.986;0.845;0.998	P;P;P;D	0.68039	0.8;0.902;0.755;0.955	T	0.68659	-0.5350	9	.	.	.	-8.9396	19.7314	0.96182	0.0:0.0:1.0:0.0	.	796;773;796;796	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	S	796;796;796;796;773;796;796	ENSP00000377252:A796S;ENSP00000377250:A796S;ENSP00000280379:A796S;ENSP00000447407:A796S;ENSP00000449215:A773S;ENSP00000377249:A796S;ENSP00000446635:A796S	.	A	+	1	0	MON2	61223165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.727000	0.93392	0.655000	0.94253	GCC		0.333	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		6	401	1	0	3.59834e-05	1	3.78287e-05	6	401					T	62936898	G	T	62936898	3	4	115	1	0	0	0	0	1	0	0	0	9741	1319	46	3	2464	3	MON2	12	62936898	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5068645	62936898	70914997	95	37281											
GNS	2799	broad.mit.edu	37	chr12	65113959	65113959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagattatagacttctacaaAcacctagaggacatgaaaga	7	8	1	5			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:65113959A>G	ENST00000258145.3	-	13	1593	c.1423T>C	c.(1423-1425)Ttt>Ctt	p.F475L	GNS_ENST00000542058.1_Missense_Mutation_p.F455L|GNS_ENST00000543646.1_Missense_Mutation_p.F507L|GNS_ENST00000418919.2_Missense_Mutation_p.F419L	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	475					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)		ACTTCTACAAACACCTAGAGG	0.408																																						ENST00000258145.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15						c.(1423-1425)Ttt>Ctt		glucosamine (N-acetyl)-6-sulfatase							169	173	172					12																	65113959		2203	4300	6503	SO:0001583	missense	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65113959A>G		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.1423T>C	12.37:g.65113959A>G	ENSP00000258145:p.Phe475Leu					GNS_ENST00000418919.2_Missense_Mutation_p.F419L|GNS_ENST00000542058.1_Missense_Mutation_p.F455L|GNS_ENST00000543646.1_Missense_Mutation_p.F507L	p.F475L	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	13	1593	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		475					B4DYH8|Q53F05	Missense_Mutation	SNP	ENST00000258145.3	37	c.1423T>C	CCDS8970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	33|33	5.208974|5.208974	0.95069|0.95069	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196	T;T;T;T|T	0.64991|0.19105	1.84;-0.13;-0.13;-0.13|2.17	5.39|5.39	5.39|5.39	0.77823|0.77823	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48059|0.48059	0.1479|0.1479	M|M	0.85777|0.85777	2.775|2.775	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.995;1.0;0.974;1.0|.	D;D;D;D|.	0.91635|.	0.969;0.999;0.949;0.998|.	T|T	0.53344|0.53344	-0.8452|-0.8452	9|6	.|.	.|.	.|.	-20.6884|-20.6884	15.7218|15.7218	0.77718|0.77718	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	455;507;475;419|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	L|A	419;475;507;455;392|260	ENSP00000413130:F419L;ENSP00000258145:F475L;ENSP00000438497:F507L;ENSP00000444819:F455L|ENSP00000437782:V260A	.|.	F|V	-|-	1|2	0|0	GNS|GNS	63400226|63400226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	9.204000|9.204000	0.95041|0.95041	2.180000|2.180000	0.69256|0.69256	0.459000|0.459000	0.35465|0.35465	TTT|GTT		0.408	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2			165	577	0	0	0	1	0	165	577					G	65113959	A	G	65113959	3	3	115	1	0	0	0	0	1	0	0	0	6579	43	2	4	243	4	GNS	12	65113959	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	2177061	65113959	68737936	96	37282											
UTP20	27340	broad.mit.edu	37	chr12	101760468	101760468	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgcacatatttattgagtcCgggcttcgggtaagaattaa	10	6	0	2	rs112368779		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:101760468C>T	ENST00000261637.4	+	47	6432	c.6258C>T	c.(6256-6258)tcC>tcT	p.S2086S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2086					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						TTATTGAGTCCGGGCTTCGGG	0.458																																						ENST00000261637.4																			0				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						c.(6256-6258)tcC>tcT		UTP20, small subunit (SSU) processome component, homolog (yeast)							124	123	123					12																	101760468		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101760468C>T	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.6258C>T	12.37:g.101760468C>T							p.S2086S	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			47	6432	+			2086					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6258C>T	CCDS9081.1																																																																																				0.458	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		14	514	0	0	0	1	0	14	514					T	101760468	C	T	101760468	2	4	115	1	0	0	0	0	0	0	0	1	17153	639	23	1		1	UTP20	12	101760468	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	36646509	101760468	32091427	97	37283											
NOS1	4842	broad.mit.edu	37	chr12	117658040	117658040	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctcggtacacagactccGccagctgctcctgcaggatg	13	14	0	1	rs561122952		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:117658040G>A	ENST00000338101.4	-	27	4116	c.4112C>T	c.(4111-4113)gCg>gTg	p.A1371V	NOS1_ENST00000317775.6_Missense_Mutation_p.A1337V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CACAGACTCCGCCAGCTGCTC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19872	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(4009-4011)gCg>gTg		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						107	115	112					12																	117658040		2201	4300	6501	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117658040G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4112C>T	12.37:g.117658040G>A	ENSP00000337459:p.Ala1371Val					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1371V	p.A1337V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	27	4695	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1337						Missense_Mutation	SNP	ENST00000338101.4	37	c.4010C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361076	0.82353	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.79554	-1.28;-1.28	4.44	4.44	0.53790	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.061459	0.64402	D	0.000004	D	0.89539	0.6744	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	P	0.56648	0.803	D	0.91880	0.5515	10	0.59425	D	0.04	-23.5503	17.268	0.87093	0.0:0.0:1.0:0.0	.	1337	P29475	NOS1_HUMAN	V	1232;1337;1371	ENSP00000320758:A1337V;ENSP00000337459:A1371V	ENSP00000320758:A1337V	A	-	2	0	NOS1	116142423	1.000000	0.71417	0.933000	0.37362	0.958000	0.62258	7.674000	0.83992	2.310000	0.77875	0.561000	0.74099	GCG		0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			6	908	0	0	0	1	0	6	908					A	117658040	G	A	117658040	3	1	115	1	0	0	0	0	1	0	0	0	10583	1087	38	1	306	1	NOS1	12	117658040	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	15897572	117658040	16193855	98	37284											
GOLGA3	2802	broad.mit.edu	37	chr12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgagctcagcgaatcctgccGctgctggctgctgtggctgc	14	14	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr12:133381515G>A	ENST00000450791.2	-	6	1567	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R462W			Q08378	GOGA3_HUMAN	golgin A3	462					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)		GAATCCTGCCGCTGCTGGCTG	0.612																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1384-1386)Cgg>Tgg		golgin A3							45	44	44					12																	133381515		2203	4291	6494	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133381515G>A	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.1384C>T	12.37:g.133381515G>A	ENSP00000410378:p.Arg462Trp					GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W	p.R462W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	7	1942	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	462					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1384C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240122	0.79912	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.45	3.12	0.35913	.	0.357463	0.36167	N	0.002757	T	0.74099	0.3672	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.995;0.995;0.998	P;B;P	0.50708	0.648;0.431;0.62	T	0.73503	-0.3962	10	0.87932	D	0	.	7.5344	0.27702	0.0:0.0804:0.1589:0.7607	.	462;462;462	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	W	462	ENSP00000204726:R462W;ENSP00000410378:R462W;ENSP00000409303:R462W;ENSP00000442143:R462W;ENSP00000442603:R462W	ENSP00000204726:R462W	R	-	1	2	GOLGA3	131891588	1.000000	0.71417	0.973000	0.42090	0.927000	0.56198	2.687000	0.46976	0.376000	0.24707	0.561000	0.74099	CGG		0.612	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		6	403	0	0	0	1	0	6	403					A	133381515	G	A	133381515	3	1	115	1	0	0	0	0	1	0	0	0	6583	1086	38	1	3322	1	GOLGA3	12	133381515	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	15723475	133381515	470380	99	37285											
SLC46A3	283537	broad.mit.edu	37	chr13	29284936	29284936	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacttttgacaacatggaccGtagaacagagaatggcacaa	9	9	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:29284936G>A	ENST00000266943.6	-	4	1474	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R369W	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	369					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AACATGGACCGTAGAACAGAG	0.398																																						ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(1105-1107)Cgg>Tgg		solute carrier family 46, member 3							145	137	140					13																	29284936		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29284936G>A		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1105C>T	13.37:g.29284936G>A	ENSP00000266943:p.Arg369Trp					SLC46A3_ENST00000380814.4_Missense_Mutation_p.R369W	p.R369W	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	4	1474	-		Lung SC(185;0.0367)	369					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.1105C>T	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367312	0.61513	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.80304	-1.36;-1.36	5.87	4.05	0.47172	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89914	0.6853	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91020	0.4856	10	0.87932	D	0	-25.3129	15.0378	0.71764	0.0:0.0:0.7331:0.2669	.	369;369	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	W	369	ENSP00000266943:R369W;ENSP00000370192:R369W	ENSP00000266943:R369W	R	-	1	2	SLC46A3	28182936	1.000000	0.71417	0.662000	0.29724	0.241000	0.25554	3.111000	0.50360	0.837000	0.34925	0.655000	0.94253	CGG		0.398	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		5	417	0	0	0	1	0	5	417					A	29284936	G	A	29284936	3	1	115	1	0	0	0	0	1	0	0	0	14696	1144	40	1	306	1	SLC46A3	13	29284936	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		29284936	85884942	100	37286											
SOHLH2	54937	broad.mit.edu	37	chr13	36744911	36744911	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatagcattctctgaggcGgagcttgatggaactttaat	10	8	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:36744911G>A	ENST00000379881.3	-	10	1102	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	SOHLH2_ENST00000554962.1_Silent_p.S415S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	338					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TCTCTGAGGCGGAGCTTGATG	0.388																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1012-1014)tcC>tcT		spermatogenesis and oogenesis specific basic helix-loop-helix 2							98	96	97					13																	36744911		2203	4300	6503	SO:0001819	synonymous_variant	54937							g.chr13:36744911G>A	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1014C>T	13.37:g.36744911G>A						SOHLH2_ENST00000554962.1_Silent_p.S415S|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S415S	p.S338S	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	10	1102	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.1014C>T	CCDS9355.1																																																																																				0.388	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		6	429	0	0	0	1	0	6	429					A	36744911	G	A	36744911	2	1	115	1	0	0	0	0	0	0	0	1	14974	1103	39	1		1	SOHLH2	13	36744911	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	7459975	36744911	78424967	101	37287											
DIAPH3	81624	broad.mit.edu	37	chr13	60557994	60557994	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatacaatctgggatacacaCtcatcaattaatttgaagta	5	7	3	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr13:60557994C>T	ENST00000400324.4	-	13	1609	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	DIAPH3_ENST00000400330.1_Silent_p.E463E|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.E417E|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000400319.1_Silent_p.E393E|DIAPH3_ENST00000267215.4_Silent_p.E463E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	463	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GGGATACACACTCATCAATTA	0.313																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1387-1389)gaG>gaA		diaphanous-related formin 3							107	104	105					13																	60557994		1842	4087	5929	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60557994C>T	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.1389G>A	13.37:g.60557994C>T						DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Silent_p.E463E|DIAPH3_ENST00000400319.1_Silent_p.E393E|DIAPH3_ENST00000377908.2_Silent_p.E452E|DIAPH3_ENST00000400330.1_Silent_p.E463E|DIAPH3_ENST00000400320.1_Silent_p.E417E	p.E463E	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	13	1609	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	463			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.1389G>A	CCDS41898.1																																																																																				0.313	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		107	427	0	0	0	1	0	107	427					T	60557994	C	T	60557994	2	4	115	1	0	0	0	0	0	0	0	1	4536	564	20	2		2	DIAPH3	13	60557994	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	23813083	60557994	54611884	102	37288											
C14orf93	60686	broad.mit.edu	37	chr14	23467783	23467783	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcaccacctgcacgccGctgcccacgctgtcacactc	6	20	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:23467783G>A	ENST00000299088.6	-	2	879	c.450C>T	c.(448-450)agC>agT	p.S150S	C14orf93_ENST00000341470.4_Silent_p.S150S|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397382.4_Silent_p.S150S|C14orf93_ENST00000406429.2_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Silent_p.S150S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	150						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CCTGCACGCCGCTGCCCACGC	0.637																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(448-450)agC>agT		chromosome 14 open reading frame 93							37	37	37					14																	23467783		2203	4300	6503	SO:0001819	synonymous_variant	60686					extracellular region		g.chr14:23467783G>A	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.450C>T	14.37:g.23467783G>A						C14orf93_ENST00000397379.3_Silent_p.S150S|C14orf93_ENST00000406429.2_Silent_p.S150S|C14orf93_ENST00000397377.1_5'UTR|C14orf93_ENST00000397382.4_Silent_p.S150S|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000341470.4_Silent_p.S150S	p.S150S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	879	-	all_cancers(95;3.3e-05)		150					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Silent	SNP	ENST00000299088.6	37	c.450C>T	CCDS9583.1																																																																																				0.637	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		5	212	0	0	0	1	0	5	212					A	23467783	G	A	23467783	2	1	115	1	0	0	0	0	0	0	0	1	1787	1078	38	1		1	C14orf93	14	23467783	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		23467783	83881757	103	37289											
FANCM	57697	broad.mit.edu	37	chr14	45658329	45658329	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ttaagaagaacaaacaacagGaccattgtttaaattcagtg	7	6	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:45658329G>T	ENST00000267430.5	+	20	5189	c.5104G>T	c.(5104-5106)Gac>Tac	p.D1702Y	FANCM_ENST00000542564.2_Missense_Mutation_p.D1676Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1702					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						CAAACAACAGGACCATTGTTT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5104-5106)Gac>Tac	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							116	114	114					14																	45658329		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658329G>T	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.5104G>T	14.37:g.45658329G>T	ENSP00000267430:p.Asp1702Tyr					FANCM_ENST00000542564.2_Missense_Mutation_p.D1676Y	p.D1702Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			20	5189	+			1702					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5104G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627860|2.627860	0.46944|0.46944	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.76578|.	-1.03;-1.03;-1.03|.	4.83|4.83	2.99|2.99	0.34606|0.34606	.|.	1.959200|.	0.02691|.	N|.	0.110584|.	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	D;D|.	0.56521|.	0.976;0.976|.	P;P|.	0.47744|.	0.556;0.556|.	T|T	0.25047|0.25047	-1.0143|-1.0143	10|5	0.54805|.	T|.	0.06|.	.|.	7.073|7.073	0.25189|0.25189	0.2863:0.0:0.7137:0.0|0.2863:0.0:0.7137:0.0	.|.	1676;1702|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	Y|V	1702;1676;1218|634	ENSP00000267430:D1702Y;ENSP00000442493:D1676Y;ENSP00000452033:D1218Y|.	ENSP00000267430:D1702Y|.	D|G	+|+	1|2	0|0	FANCM|FANCM	44728079|44728079	0.290000|0.290000	0.24343|0.24343	0.001000|0.001000	0.08648|0.08648	0.313000|0.313000	0.28021|0.28021	1.643000|1.643000	0.37217|0.37217	0.565000|0.565000	0.29255|0.29255	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		122	532	1	0	8.88823e-52	1	9.69196e-52	122	532					T	45658329	G	T	45658329	3	4	115	1	0	0	0	0	1	0	0	0	5696	1174	41	3	5182	3	FANCM	14	45658329	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	22190546	45658329	61691211	104	37290											
ZFYVE1	53349	broad.mit.edu	37	chr14	73465019	73465019	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taataaagtcttcttcatttGttacctgcaaaaaaaaaaaa	3	6	3	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:73465019G>T	ENST00000556143.1	-	3	1208	c.488C>A	c.(487-489)aCa>aAa	p.T163K	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T163K|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T163K	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	163					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.T163K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TTCTTCATTTGTTACCTGCAA	0.353																																						ENST00000556143.1																			1	Substitution - Missense(1)	p.T163K(1)	kidney(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35						c.(487-489)aCa>aAa		zinc finger, FYVE domain containing 1							25	25	25					14																	73465019		2148	4171	6319	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73465019G>T	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.488C>A	14.37:g.73465019G>T	ENSP00000450742:p.Thr163Lys					ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T163K|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T163K	p.T163K	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	3	1208	-		all_lung(585;1.33e-09)	163					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.488C>A	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	G	1.558	-0.537361	0.04082	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.61274	0.12;0.12;0.12	5.42	3.31	0.37934	.	0.223482	0.45606	D	0.000354	T	0.13628	0.0330	N	0.00246	-1.78	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46331	-0.9199	10	0.02654	T	1	-6.3589	2.617	0.04907	0.095:0.1517:0.3898:0.3636	.	163;163	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	K	163	ENSP00000452442:T163K;ENSP00000326921:T163K;ENSP00000450742:T163K	ENSP00000326921:T163K	T	-	2	0	ZFYVE1	72534772	0.951000	0.32395	0.993000	0.49108	0.907000	0.53573	1.675000	0.37555	2.545000	0.85829	0.591000	0.81541	ACA		0.353	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		13	148	1	0	9.22233e-05	1	9.6458e-05	13	148					T	73465019	G	T	73465019	3	4	115	1	0	0	0	0	1	0	0	0	17716	1377	48	3	1885	3	ZFYVE1	14	73465019	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	27806690	73465019	33884521	105	37291											
SERPINA1	5265	broad.mit.edu	37	chr14	94844885	94844885	+	Frame_Shift_Del	DEL	G	G	-													ggtttgttgaacttgacctcGggggggatagacatgggtat					rs143329723		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:94844885delG	ENST00000448921.1	-	7	1730	c.1158delC	c.(1156-1158)cccfs	p.P386fs	SERPINA1_ENST00000355814.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393087.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000449399.3_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393088.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000437397.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000440909.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000404814.4_Frame_Shift_Del_p.P386fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	386	RCL.		P -> H (in Sao Tome). {ECO:0000269|Ref.70}.|P -> T (in L-Offenbach).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACTTGACCTCGGGGGGGATAG	0.493																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24	GRCh37	CD890162	SERPINA1	D	rs143329723	c.(1156-1158)ccfs		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						106	104	105					14																	94844885		2203	4300	6503	SO:0001589	frameshift_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94844885delG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1158delC	14.37:g.94844885delG	ENSP00000416066:p.Pro386fs					SERPINA1_ENST00000404814.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393087.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000437397.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000355814.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000393088.4_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000440909.1_Frame_Shift_Del_p.P386fs|SERPINA1_ENST00000449399.3_Frame_Shift_Del_p.P386fs	p.P386fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	7	1730	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	386		P -> H (in Sao Tome).|P -> T (in L-Offenbach).	RCL.		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Del	DEL	ENST00000448921.1	37	c.1158delC	CCDS9925.1																																																																																				0.493	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		8	411						8	411	---	---	---	---	-	94844885	G	-	94844885	7	5	115	1	0	1	0	1	0	0	0	0	14136	1103	39	0	102	0	SERPINA1	14	94844885	Frame_Shift_Del	DEL	G	TCGA-US-A77G-01A-11D-A32N-08	21379866	94844885	12504655	106	37292											
GSC	145258	broad.mit.edu	37	chr14	95236204	95236205	+	In_Frame_Ins	INS	-	-	CGC													ggcgccatagtccgaggaggINScgccgccgctggcgccgtag					rs552249582	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:95236204_95236205insCGC	ENST00000238558.3	-	1	357_358	c.148_149insGCG	c.(148-150)gcc>gGCGcc	p.49_50insG		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	49					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		GTCCGAGGAGGCGCCGCCGCTG	0.762														28	0.00559105	0.0015	0.0101	5008	,	,		9003	0.0		0.0119	False		,,,				2504	0.0072				Pancreas(105;2165 2186 4892 18008)	ENST00000238558.3																			0				skin(1)	1						c.(148-150)ctc>GCGctc		goosecoid homeobox				7,1715		3,1,857						3.4	1			2	97,3735		33,31,1852	no	coding	GSC	NM_173849.2		36,32,2709	A1A1,A1R,RR		2.5313,0.4065,1.8725				104,5450				SO:0001652	inframe_insertion	145258				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:95236204_95236205insCGC		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"Homeoboxes / PRD class"	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.146_148dupGCG	14.37:g.95236211_95236213dupCGC	ENSP00000238558:p.Gly49_Gly49dup						p.50_51insA	NM_173849.2	NP_776248.1	P56915	GSC_HUMAN		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)	1	357_358	-		all_cancers(154;0.0896)|all_epithelial(191;0.219)	50					Q86YR1	In_Frame_Ins	INS	ENST00000238558.3	37	c.148_149insGCG	CCDS9930.1																																																																																				0.762	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			9	9						9	9	---	---	---	---	CGC	95236205	-	CGC	95236204	7	5	115	1	0	1	1	0	0	0	0	0	6844	1203	42	0	636	0	GSC	14	95236204	In_Frame_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	391319	95236204	12113336	107	37293											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482730	102482730	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggtccctgtctggagacagCcggctaaaaatgagagcaga	13	9	1	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:102482730C>T	ENST00000360184.4	+	37	7682	c.7518C>T	c.(7516-7518)agC>agT	p.S2506S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2506					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						CTGGAGACAGCCGGCTAAAAA	0.418																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7516-7518)agC>agT		dynein, cytoplasmic 1, heavy chain 1							67	66	66					14																	102482730		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482730C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7518C>T	14.37:g.102482730C>T							p.S2506S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			37	7682	+			2506					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.7518C>T	CCDS9966.1																																																																																				0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		5	351	0	0	0	1	0	5	351					T	102482730	C	T	102482730	2	4	115	1	0	0	0	0	0	0	0	1	4857	738	26	2		2	DYNC1H1	14	102482730	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	7246526	102482730	4866810	108	37294											
RAGE	5891	broad.mit.edu	37	chr14	102718302	102718303	+	Frame_Shift_Ins	INS	-	-	T													ctggtacatatagtgcataaINStttttttttctgataatggg					rs145834415	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr14:102718302_102718303insT	ENST00000361847.2	-	5	544_545	c.313_314insA	c.(313-315)attfs	p.I105fs	MOK_ENST00000524214.1_Frame_Shift_Ins_p.I75fs|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Frame_Shift_Ins_p.I105fs	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	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)										ATAGTGCATAATTTTTTTTTCT	0.322																																						ENST00000361847.2																			0											c.(313-315)tatfs		MOK protein kinase																																				SO:0001589	frameshift_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102718302_102718303insT	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.314dupA	14.37:g.102718311_102718311dupT	ENSP00000355304:p.Ile105fs					MOK_ENST00000524214.1_Frame_Shift_Ins_p.Y75fs|MOK_ENST00000522874.1_Frame_Shift_Ins_p.Y105fs|MOK_ENST00000193029.6_5'UTR	p.Y105fs	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			5	544_545	-			105			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Frame_Shift_Ins	INS	ENST00000361847.2	37	c.313_314insA	CCDS9971.1																																																																																				0.322	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			7	382						7	382	---	---	---	---	T	102718303	-	T	102718302	7	5	115	1	0	1	1	0	0	0	0	0	13056	101	4	0	977	0	RAGE	14	102718302	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	235572	102718302	4631238	109	37295											
PGBD4	161779	broad.mit.edu	37	chr15	34396066	34396066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacttcttatccatctgagcGcaaaagacacaaggtttggt	8	9	2	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:34396066G>A	ENST00000397766.2	+	1	1793	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	445										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)		CCATCTGAGCGCAAAAGACAC	0.413																																						ENST00000397766.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16						c.(1333-1335)cGc>cAc		piggyBac transposable element derived 4							77	71	73					15																	34396066		2201	4298	6499	SO:0001583	missense	161779							g.chr15:34396066G>A	AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1334G>A	15.37:g.34396066G>A	ENSP00000380872:p.Arg445His						p.R445H	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)	1	1793	+		all_lung(180;1.76e-08)	445					A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	c.1334G>A	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	g	17.93	3.508096	0.64410	.	.	ENSG00000182405	ENST00000397766	T	0.19938	2.11	1.02	-1.24	0.09435	.	3.690650	0.02398	N	0.080343	T	0.34106	0.0886	L	0.55481	1.735	0.09310	N	0.99999	D	0.67145	0.996	D	0.68353	0.957	T	0.23511	-1.0186	10	0.25106	T	0.35	.	1.9806	0.03426	0.4088:0.0:0.3294:0.2618	.	445	Q96DM1	PGBD4_HUMAN	H	445	ENSP00000380872:R445H	ENSP00000380872:R445H	R	+	2	0	PGBD4	32183358	0.487000	0.25988	0.009000	0.14445	0.953000	0.61014	0.430000	0.21428	-0.479000	0.06813	0.306000	0.20318	CGC		0.413	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1			6	376	0	0	0	1	0	6	376					A	34396066	G	A	34396066	3	1	115	1	0	0	0	0	1	0	0	0	11825	1087	38	1	1336	1	PGBD4	15	34396066	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		34396066	68135326	110	37296											
GPR176	11245	broad.mit.edu	37	chr15	40093625	40093625	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaggggtggggcagagggcGcaaactgtggcccctgctct	17	11	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:40093625G>A	ENST00000561100.1	-	3	2121	c.1256C>T	c.(1255-1257)gCg>gTg	p.A419V	GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000299092.3_Missense_Mutation_p.A418V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	419					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGCAGAGGGCGCAAACTGTGG	0.577																																						ENST00000299092.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1252-1254)gCg>gTg		G protein-coupled receptor 176							140	137	138					15																	40093625		2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093625G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1256C>T	15.37:g.40093625G>A	ENSP00000453076:p.Ala419Val					GPR176_ENST00000561100.1_Missense_Mutation_p.A419V|GPR176_ENST00000543580.1_Missense_Mutation_p.A374V	p.A418V	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	1451	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	419					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1253C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	0.833	-0.744502	0.03065	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.79141	-1.24	5.95	-1.57	0.08506	.	1.400100	0.04030	N	0.301258	T	0.64136	0.2571	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43589	-0.9382	10	0.26408	T	0.33	-0.0271	8.3264	0.32160	0.3111:0.1057:0.5832:0.0	.	419	Q14439	GP176_HUMAN	V	419;374	ENSP00000439361:A374V	ENSP00000299092:A419V	A	-	2	0	GPR176	37880917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.381000	0.07417	-0.876000	0.04017	-2.048000	0.00412	GCG		0.577	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		6	824	0	0	0	1	0	6	824					A	40093625	G	A	40093625	3	1	115	1	0	0	0	0	1	0	0	0	6702	1087	38	1	295	1	GPR176	15	40093625	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5697559	40093625	62437767	111	37297											
TLN2	83660	broad.mit.edu	37	chr15	63088384	63088384	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggaacccaggcatgcattaCagccgccaccgctgtgtctg	11	14	1	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:63088384C>A	ENST00000561311.1	+	46	6172	c.5942C>A	c.(5941-5943)aCa>aAa	p.T1981K	TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K			Q9Y4G6	TLN2_HUMAN	talin 2	1981					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						GCATGCATTACAGCCGCCACC	0.562																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5941-5943)aCa>aAa		talin 2							70	67	68					15																	63088384		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63088384C>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5942C>A	15.37:g.63088384C>A	ENSP00000453508:p.Thr1981Lys					TLN2_ENST00000306829.6_Missense_Mutation_p.T1981K	p.T1981K			Q9Y4G6	TLN2_HUMAN			46	6172	+			1981					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5942C>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317805	0.81469	.	.	ENSG00000171914	ENST00000306829	T	0.69040	-0.37	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	M	0.64997	1.995	0.80722	D	1	D	0.67145	0.996	P	0.55303	0.773	T	0.70941	-0.4735	10	0.23302	T	0.38	-17.5484	19.3855	0.94554	0.0:1.0:0.0:0.0	.	1981	Q9Y4G6	TLN2_HUMAN	K	1981	ENSP00000303476:T1981K	ENSP00000303476:T1981K	T	+	2	0	TLN2	60875437	1.000000	0.71417	0.964000	0.40570	0.521000	0.34408	7.776000	0.85560	2.569000	0.86673	0.655000	0.94253	ACA		0.562	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			6	401	1	0	5.9392e-07	1	6.34133e-07	6	401					A	63088384	C	A	63088384	3	1	115	1	0	0	0	0	1	0	0	0	16000	478	17	3	6116	3	TLN2	15	63088384	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	22994759	63088384	39443008	112	37298											
CYP1A2	1544	broad.mit.edu	37	chr15	75043540	75043540	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccctcagaacagtgtccGggacatcacgggtgccctgt	12	15	2	1	rs267604321		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:75043540G>A	ENST00000343932.4	+	3	905	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	281			R -> W (in dbSNP:rs45468096). {ECO:0000269|Ref.7}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	AACAGTGTCCGGGACATCACG	0.577																																						ENST00000343932.4																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(841-843)cGg>cAg		cytochrome P450, family 1, subfamily A, polypeptide 2	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)						99	82	88					15																	75043540		2197	4296	6493	SO:0001583	missense	1544				alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	g.chr15:75043540G>A	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.842G>A	15.37:g.75043540G>A	ENSP00000342007:p.Arg281Gln						p.R281Q	NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN			3	905	+			281		R -> W (in dbSNP:rs45468096).			Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	c.842G>A	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663059	0.29515	.	.	ENSG00000140505	ENST00000343932	T	0.70869	-0.52	4.85	3.72	0.42706	.	0.106321	0.64402	N	0.000004	T	0.57607	0.2065	L	0.45285	1.41	0.34065	D	0.657722	B	0.06786	0.001	B	0.08055	0.003	T	0.59144	-0.7509	10	0.39692	T	0.17	.	5.5956	0.17325	0.7456:0.0:0.2544:0.0	.	281	P05177-2	.	Q	281	ENSP00000342007:R281Q	ENSP00000342007:R281Q	R	+	2	0	CYP1A2	72830593	1.000000	0.71417	0.999000	0.59377	0.410000	0.31052	3.556000	0.53734	0.865000	0.35603	-0.598000	0.04106	CGG		0.577	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		7	302	0	0	0	1	0	7	302					A	75043540	G	A	75043540	3	1	115	1	0	0	0	0	1	0	0	0	4161	1116	39	1	848	1	CYP1A2	15	75043540	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	11955156	75043540	27487852	113	37299											
GOLGA6C	653641	broad.mit.edu	37	chr15	75562489	75562489	+	Frame_Shift_Del	DEL	C	C	-													gagggttctccccatgacaaCcccccggtacagcagatcgt							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr15:75562489delC	ENST00000300576.5	+	18	2031	c.2031delC	c.(2029-2031)aacfs	p.N677fs	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	677						Golgi apparatus (GO:0005794)				ovary(1)	1						CCCATGACAACCCCCCGGTAC	0.602																																						ENST00000300576.5																			0				ovary(1)	1						c.(2029-2031)aafs		golgin A6 family, member C							50	62	58					15																	75562489		665	1575	2240	SO:0001589	frameshift_variant	653641							g.chr15:75562489delC		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2031delC	15.37:g.75562489delC	ENSP00000300576:p.Asn677fs						p.N677fs	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN			18	2031	+			677						Frame_Shift_Del	DEL	ENST00000300576.5	37	c.2031delC	CCDS58388.1																																																																																				0.602	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		7	1099						7	1099	---	---	---	---	-	75562489	C	-	75562489	7	5	115	1	0	1	0	1	0	0	0	0	6588	506	18	0	2101	0	GOLGA6C	15	75562489	Frame_Shift_Del	DEL	C	TCGA-US-A77G-01A-11D-A32N-08	518949	75562489	26968903	114	37300											
WDR90	197335	broad.mit.edu	37	chr16	711075	711075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcctacacgtgcggccGcctggtggtggtggaggacc	16	12	0	0	rs377695532		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:711075G>A	ENST00000293879.4	+	29	3416	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	WDR90_ENST00000549091.1_Missense_Mutation_p.R1139H			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1139										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACGTGCGGCCGCCTGGTGGTG	0.746																																						ENST00000549091.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(3415-3417)cGc>cAc		WD repeat domain 90		G	HIS/ARG	1,3813		0,1,1906	7	9	9		3416	3	0.6	16		9	0,8202		0,0,4101	no	missense	WDR90	NM_145294.4	29	0,1,6007	AA,AG,GG		0.0,0.0262,0.0083	benign	1139/1749	711075	1,12015	1907	4101	6008	SO:0001583	missense	197335							g.chr16:711075G>A	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3416G>A	16.37:g.711075G>A	ENSP00000293879:p.Arg1139His					WDR90_ENST00000293879.4_Missense_Mutation_p.R1139H	p.R1139H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN			29	3508	+		Hepatocellular(780;0.0218)	1139					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.3416G>A	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648178	0.29336	2.62E-4	0.0	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.42513	1.55;0.97	4.96	3.0	0.34707	Quinonprotein alcohol dehydrogenase-like (1);	0.436630	0.26072	N	0.026520	T	0.24236	0.0587	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.03807	-1.1002	10	0.42905	T	0.14	.	10.5167	0.44894	0.1582:0.0:0.8418:0.0	.	1139;1139	F8VUX9;Q96KV7	.;WDR90_HUMAN	H	1139	ENSP00000448122:R1139H;ENSP00000293879:R1139H	ENSP00000293879:R1139H	R	+	2	0	WDR90	651076	0.817000	0.29147	0.620000	0.29132	0.104000	0.19210	4.351000	0.59398	0.619000	0.30197	-0.671000	0.03813	CGC		0.746	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	47	0	0	0	1	0	3	47					A	711075	G	A	711075	3	1	115	1	0	0	0	0	1	0	0	0	17391	1087	38	1	3530	1	WDR90	16	711075	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		711075	89643678	115	37301											
KIAA0556	23247	broad.mit.edu	37	chr16	27640032	27640032	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcaattgaggctggagcActtggagcaaggtttctctg	14	8	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:27640032A>G	ENST00000261588.4	+	4	210	c.191A>G	c.(190-192)cAc>cGc	p.H64R		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	64						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGCTGGAGCACTTGGAGCAA	0.488																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(190-192)cAc>cGc		KIAA0556							150	138	142					16																	27640032		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27640032A>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.191A>G	16.37:g.27640032A>G	ENSP00000261588:p.His64Arg						p.H64R	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			4	210	+			64					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.191A>G	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000654	0.35320	.	.	ENSG00000047578	ENST00000261588	T	0.39997	1.05	5.21	5.21	0.72293	.	0.237136	0.35349	N	0.003262	T	0.51092	0.1654	L	0.48642	1.525	0.40163	D	0.977085	D	0.61697	0.99	P	0.61592	0.891	T	0.45366	-0.9266	10	0.22109	T	0.4	.	12.6144	0.56567	1.0:0.0:0.0:0.0	.	64	O60303	K0556_HUMAN	R	64	ENSP00000261588:H64R	ENSP00000261588:H64R	H	+	2	0	KIAA0556	27547533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.096000	0.50243	1.973000	0.57446	0.454000	0.30748	CAC		0.488	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		69	697	0	0	0	1	0	69	697					G	27640032	A	G	27640032	3	3	115	1	0	0	0	0	1	0	0	0	8213	159	6	4	205	4	KIAA0556	16	27640032	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	26928957	27640032	62714721	116	37302											
SH2B1	25970	broad.mit.edu	37	chr16	28883208	28883208	+	Frame_Shift_Del	DEL	C	C	-													aactgcttcccccagagttgCccccccgcatccccattgaa							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:28883208delC	ENST00000322610.8	+	8	1856	c.1417delC	c.(1417-1419)cccfs	p.P474fs	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000395532.4_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000545570.1_Frame_Shift_Del_p.P164fs|SH2B1_ENST00000337120.5_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000538342.1_Frame_Shift_Del_p.P138fs			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	474	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCAGAGTTGCCCCCCCGCAT	0.632																																						ENST00000337120.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1417-1419)ccfs		SH2B adaptor protein 1							52	54	53					16																	28883208		2197	4300	6497	SO:0001589	frameshift_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883208delC	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.1417delC	16.37:g.28883208delC	ENSP00000321221:p.Pro474fs					SH2B1_ENST00000322610.8_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000545570.1_Frame_Shift_Del_p.P164fs|SH2B1_ENST00000395532.4_Frame_Shift_Del_p.P474fs|SH2B1_ENST00000538342.1_Frame_Shift_Del_p.P138fs|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Frame_Shift_Del_p.P474fs	p.P474fs	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN			5	4708	+			474			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Frame_Shift_Del	DEL	ENST00000322610.8	37	c.1417delC	CCDS53996.1																																																																																				0.632	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		7	686						7	686	---	---	---	---	-	28883208	C	-	28883208	7	5	115	1	0	1	0	1	0	0	0	0	14277	739	26	0	1435	0	SH2B1	16	28883208	Frame_Shift_Del	DEL	C	TCGA-US-A77G-01A-11D-A32N-08	1243176	28883208	61471545	117	37303											
HAS3	3038	broad.mit.edu	37	chr16	69148721	69148721	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acagcttttctaccggggccGcatctggaacattctcctct	8	14	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:69148721G>A	ENST00000306560.1	+	4	1370	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R405H	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	405					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)	p.R405H(1)		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)		TACCGGGGCCGCATCTGGAAC	0.542																																						ENST00000306560.1																			1	Substitution - Missense(1)	p.R405H(1)	large_intestine(1)	cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(1213-1215)cGc>cAc		hyaluronan synthase 3							117	109	112					16																	69148721		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148721G>A	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.1214G>A	16.37:g.69148721G>A	ENSP00000304440:p.Arg405His					HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.R405H	p.R405H	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	1370	+		Ovarian(137;0.101)	405					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.1214G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700380	0.88924	.	.	ENSG00000103044	ENST00000306560	T	0.59364	0.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	L	0.59436	1.845	0.58432	D	0.999998	D	0.63046	0.992	P	0.54312	0.748	T	0.65899	-0.6056	10	0.44086	T	0.13	-8.402	20.2544	0.98414	0.0:0.0:1.0:0.0	.	405	O00219	HAS3_HUMAN	H	405	ENSP00000304440:R405H	ENSP00000304440:R405H	R	+	2	0	HAS3	67706222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.749000	0.74883	2.885000	0.99019	0.655000	0.94253	CGC		0.542	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		6	619	0	0	0	1	0	6	619					A	69148721	G	A	69148721	3	1	115	1	0	0	0	0	1	0	0	0	6993	1087	38	1	1224	1	HAS3	16	69148721	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	40265513	69148721	21206032	118	37304											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	13	10	2	2	rs370258691		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1333-1335)gCg>gTg		ATPase, Ca++ transporting, type 2C, member 2		C	VAL/ALA	0,3772		0,0,1886	177	179	179		1334	4.9	0.9	16		179	1,8231		0,1,4115	no	missense	ATP2C2	NM_014861.2	64	0,1,6001	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging	445/947	84476138	1,12003	1886	4116	6002	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84476138C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1334C>T	16.37:g.84476138C>T	ENSP00000262429:p.Ala445Val					ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR	p.A445V			O75185	AT2C2_HUMAN			15	1423	+			445					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1334C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		8	1328	0	0	0	1	0	8	1328					T	84476138	C	T	84476138	3	4	115	1	0	0	0	0	1	0	0	0	1145	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	15327417	84476138	5878615	119	37305											
JPH3	57338	broad.mit.edu	37	chr16	87636931	87636931	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cacctggcccagcggcaacaCgtaccagggcacctgggcgc	13	17	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr16:87636931C>A	ENST00000284262.2	+	1	421	c.179C>A	c.(178-180)aCg>aAg	p.T60K	RP11-482M8.3_ENST00000602388.1_RNA	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	60	Gly-rich.				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)		AGCGGCAACACGTACCAGGGC	0.677																																						ENST00000284262.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(178-180)aCg>aAg		junctophilin 3							37	35	35					16																	87636931		2198	4298	6496	SO:0001583	missense	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87636931C>A	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.179C>A	16.37:g.87636931C>A	ENSP00000284262:p.Thr60Lys						p.T60K	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	1	421	+			60			Gly-rich.		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	c.179C>A	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048418	0.75846	.	.	ENSG00000154118	ENST00000301008;ENST00000284262	T	0.55930	0.49	4.07	4.07	0.47477	.	0.177447	0.47852	D	0.000213	T	0.40670	0.1126	N	0.04787	-0.16	0.58432	D	0.999998	B	0.22851	0.076	B	0.39771	0.309	T	0.38520	-0.9657	10	0.30854	T	0.27	.	15.2272	0.73359	0.0:1.0:0.0:0.0	.	60	Q8WXH2	JPH3_HUMAN	K	60	ENSP00000284262:T60K	ENSP00000284262:T60K	T	+	2	0	JPH3	86194432	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.759000	0.38420	1.800000	0.52685	0.462000	0.41574	ACG		0.677	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			5	162	1	0	1.024e-07	1	1.09906e-07	5	162					A	87636931	C	A	87636931	3	1	115	1	0	0	0	0	1	0	0	0	7992	536	19	3	181	3	JPH3	16	87636931	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	3160793	87636931	2717822	120	37306											
MYH10	4628	broad.mit.edu	37	chr17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-													ttttggaggatttggtttctTtcttcttcttcttcaaccct							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					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						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	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.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.35	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			9	231						9	231	---	---	---	---	-	8415822	TTC	-	8415820	7	5	115	1	0	1	0	1	0	0	0	0	10071	1838	64	0	3202	0	MYH10	17	8415820	In_Frame_Del	DEL	TTC	TCGA-US-A77G-01A-11D-A32N-08		8415820	72779390	121	37307											
USP43	124739	broad.mit.edu	37	chr17	9631939	9631939	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcacccttctgaggtccGtgtttcggaagaaggagaac	11	11	2	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:9631939G>A	ENST00000285199.7	+	15	3100	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	USP43_ENST00000570475.1_Missense_Mutation_p.V997M|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1002					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						TCTGAGGTCCGTGTTTCGGAA	0.602																																						ENST00000570827.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						c.(2071-2073)Gtg>Atg		ubiquitin specific peptidase 43							34	38	37					17																	9631939		1961	4142	6103	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9631939G>A	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3004G>A	17.37:g.9631939G>A	ENSP00000285199:p.Val1002Met					USP43_ENST00000285199.6_Missense_Mutation_p.V1002M|USP43_ENST00000570475.1_Missense_Mutation_p.V997M	p.V691M			Q70EL4	UBP43_HUMAN			15	3145	+			1002					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.2071G>A	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	6.121	0.390479	0.11581	.	.	ENSG00000154914	ENST00000285199	T	0.10192	2.9	5.24	-0.892	0.10570	.	7.908350	0.00166	N	0.000002	T	0.10723	0.0262	L	0.57536	1.79	0.18873	N	0.999985	B;P;B;P	0.42757	0.297;0.668;0.297;0.789	B;B;B;B	0.27500	0.023;0.055;0.023;0.08	T	0.46162	-0.9211	10	0.51188	T	0.08	-12.3583	8.6472	0.34013	0.4535:0.0:0.5465:0.0	.	997;691;1002;514	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	M	1002	ENSP00000285199:V1002M	ENSP00000285199:V1002M	V	+	1	0	USP43	9572664	0.014000	0.17966	0.378000	0.26068	0.003000	0.03518	0.017000	0.13399	-0.027000	0.13873	-0.768000	0.03414	GTG		0.602	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		4	195	0	0	0	1	0	4	195					A	9631939	G	A	9631939	3	1	115	1	0	0	0	0	1	0	0	0	17128	1145	40	1	3062	1	USP43	17	9631939	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	1216119	9631939	71563271	122	37308											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					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)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	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.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		11	437						11	437	---	---	---	---	-	18167780	GCT	-	18167778	7	5	115	1	0	1	0	1	0	0	0	0	14840	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-US-A77G-01A-11D-A32N-08	8535839	18167778	63027432	123	37309											
MYO1D	4642	broad.mit.edu	37	chr17	31082528	31082528	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctttcggctggaaaaatgGgcgtgtttgcccaatttact	10	9	0	0	rs576692452	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:31082528G>A	ENST00000318217.5	-	11	1753	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	MYO1D_ENST00000579584.1_Silent_p.A483A|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.A395A	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	483	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGGAAAAATGGGCGTGTTTGC	0.393																																						ENST00000318217.5																			0				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						c.(1447-1449)gcC>gcT		myosin ID							123	111	115					17																	31082528		2203	4300	6503	SO:0001819	synonymous_variant	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31082528G>A	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.1449C>T	17.37:g.31082528G>A						MYO1D_ENST00000579584.1_Silent_p.A483A|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Silent_p.A395A	p.A483A	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		11	1753	-			483			Myosin head-like.		A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	c.1449C>T	CCDS32615.1																																																																																				0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			15	397	0	0	0	1	0	15	397					A	31082528	G	A	31082528	2	1	115	1	0	0	0	0	0	0	0	1	10112	1219	43	2		2	MYO1D	17	31082528	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	12914750	31082528	50112682	124	37310											
KRTAP3-1	83896	broad.mit.edu	37	chr17	39165249	39165249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggcagactccacagcgGcagcttttatcaaatgagca	11	10	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:39165249G>A	ENST00000391588.1	-	1	117	c.78C>T	c.(76-78)tgC>tgT	p.C26C	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	26	4 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTCCACAGCGGCAGCTTTTAT	0.592																																						ENST00000391588.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(76-78)tgC>tgT		keratin associated protein 3-1							85	88	87					17																	39165249		2203	4296	6499	SO:0001819	synonymous_variant	83896					keratin filament	structural molecule activity	g.chr17:39165249G>A	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"Keratin associated proteins"	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.78C>T	17.37:g.39165249G>A						KRTAP3-1_ENST00000581033.1_5'UTR	p.C26C	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN			1	117	-		Breast(137;0.00043)	26			4 X 5 AA repeats of C-C-X(3).		Q14DM4	Silent	SNP	ENST00000391588.1	37	c.78C>T	CCDS32645.1																																																																																				0.592	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1			5	538	0	0	0	1	0	5	538					A	39165249	G	A	39165249	2	1	115	1	0	0	0	0	0	0	0	1	8576	1195	42	2		2	KRTAP3-1	17	39165249	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	8082721	39165249	42029961	125	37311											
DHX8	1659	broad.mit.edu	37	chr17	41601211	41601211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcgagctttccgacggcGctgaaaggcaagattgttcc	11	11	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr17:41601211G>A	ENST00000262415.3	+	23	3731	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1220					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)		TTCCGACGGCGCTGAAAGGCA	0.517																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				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						c.(3658-3660)cGc>cAc		DEAH (Asp-Glu-Ala-His) box polypeptide 8							76	66	70					17																	41601211		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41601211G>A	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.3659G>A	17.37:g.41601211G>A	ENSP00000262415:p.Arg1220His					DHX8_ENST00000540306.1_Intron	p.R1220H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	23	3731	+		Breast(137;0.00908)	1220						Missense_Mutation	SNP	ENST00000262415.3	37	c.3659G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780753	0.70222	.	.	ENSG00000067596	ENST00000262415	T	0.03801	3.8	6.16	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.36672	1.1	0.58432	D	0.999999	D	0.71674	0.998	P	0.52481	0.7	T	0.03423	-1.1038	10	0.87932	D	0	.	14.6997	0.69147	0.0688:0.0:0.9312:0.0	.	1220	Q14562	DHX8_HUMAN	H	1220	ENSP00000262415:R1220H	ENSP00000262415:R1220H	R	+	2	0	DHX8	38956737	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	9.841000	0.99482	1.628000	0.50416	-0.145000	0.13849	CGC		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			4	208	0	0	0	1	0	4	208					A	41601211	G	A	41601211	3	1	115	1	0	0	0	0	1	0	0	0	4531	1087	38	1	3749	1	DHX8	17	41601211	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2435962	41601211	39593999	126	37312											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt					rs370244500		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					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)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				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						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	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.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	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)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.46	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		7	1090						7	1090	---	---	---	---	T	21745097	-	T	21745096	7	5	115	1	0	1	1	0	0	0	0	0	11319	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08		21745096	56332152	127	37313											
SMAD4	4089	broad.mit.edu	37	chr18	48604742	48604743	+	Frame_Shift_Del	DEL	CC	CC	-													gacagagcatcaaagaaacaCcttgctggattgaaattcac					rs377767374		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr18:48604742_48604743delCC	ENST00000342988.3	+	12	2102_2103	c.1564_1565delCC	c.(1564-1566)cctfs	p.P522fs	SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P426fs|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	522	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)		CAAAGAAACACCTTGCTGGATT	0.48																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(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	GRCh37	CD000943	SMAD4	D		c.(1564-1566)tfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604742_48604743delCC	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.1564_1565delCC	18.37:g.48604742_48604743delCC	ENSP00000341551:p.Pro522fs					SMAD4_ENST00000588745.1_Frame_Shift_Del_p.P426fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.P522fs	p.P522fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2102_2103	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	522			MH2.		A8K405	Frame_Shift_Del	DEL	ENST00000342988.3	37	c.1564_1565delCC	CCDS11950.1																																																																																				0.48	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		96	295						96	295	---	---	---	---	-	48604743	CC	-	48604742	7	5	115	1	0	1	0	1	0	0	0	0	14810	507	18	0	1606	0	SMAD4	18	48604742	Frame_Shift_Del	DEL	CC	TCGA-US-A77G-01A-11D-A32N-08	26859646	48604742	29472506	128	37314											
C3	718	broad.mit.edu	37	chr19	6719298	6719298	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggacagcactagttttttgCctgggaagtcgtggacagta	13	7	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:6719298C>T	ENST00000245907.6	-	2	283	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	64					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)	TAGTTTTTTGCCTGGGAAGTC	0.592																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(190-192)gGc>gAc		complement component 3							236	169	192					19																	6719298		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6719298C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.191G>A	19.37:g.6719298C>T	ENSP00000245907:p.Gly64Asp						p.G64D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	2	283	-			64					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.191G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678519	0.14841	.	.	ENSG00000125730	ENST00000245907	T	0.79845	-1.31	4.87	-9.75	0.00506	.	2.754490	0.01396	N	0.013408	T	0.60209	0.2251	N	0.22421	0.69	0.09310	N	1	B	0.26318	0.146	B	0.28709	0.093	T	0.51957	-0.8639	10	0.11794	T	0.64	.	3.9794	0.09489	0.0806:0.3674:0.1424:0.4095	.	64	P01024	CO3_HUMAN	D	64	ENSP00000245907:G64D	ENSP00000245907:G64D	G	-	2	0	C3	6670298	0.000000	0.05858	0.001000	0.08648	0.154000	0.21943	-1.181000	0.03085	-1.444000	0.01950	0.305000	0.20034	GGC		0.592	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		6	687	0	0	0	1	0	6	687					T	6719298	C	T	6719298	3	4	115	1	0	0	0	0	1	0	0	0	2211	739	26	2	4960	2	C3	19	6719298	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		6719298	52409685	129	37315											
KIAA1543	57662	broad.mit.edu	37	chr19	7682439	7682439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caccctctaggtccacggctGtacaaagaacccagcgccaa	8	16	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:7682439G>A	ENST00000160298.4	+	16	3437	c.3336G>A	c.(3334-3336)ctG>ctA	p.L1112L	CAMSAP3_ENST00000446248.2_Silent_p.L1139L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1112	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GTCCACGGCTGTACAAAGAAC	0.597																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(3415-3417)ctG>ctA		calmodulin regulated spectrin-associated protein family, member 3							80	83	82					19																	7682439		2076	4213	6289	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7682439G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3336G>A	19.37:g.7682439G>A						CAMSAP3_ENST00000160298.4_Silent_p.L1112L	p.L1139L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			18	3518	+			1112			CKK.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.3417G>A	CCDS42489.1																																																																																				0.597	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		5	264	0	0	0	1	0	5	264					A	7682439	G	A	7682439	2	1	115	1	0	0	0	0	0	0	0	1	8273	1364	48	2		2	KIAA1543	19	7682439	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	963141	7682439	51446544	130	37316											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		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.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		6	955	0	0	0	1	0	6	955					C	12155673	A	C	12155673	3	2	115	1	0	0	0	0	1	0	0	0	18249	40	2	4	1056	4	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-US-A77G-01A-11D-A32N-08	4473234	12155673	46973310	131	37317											
MLL4	9757	broad.mit.edu	37	chr19	36223712	36223712	+	Frame_Shift_Del	DEL	C	C	-													agggcacgcctccttcggggCcaggagtagtccgggcaggg							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:36223712delC	ENST00000222270.7	+	28	6262	c.6262delC	c.(6262-6264)ccafs	p.P2088fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.P2088fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2088					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)										TCCTTCGGGGCCAGGAGTAGT	0.662																																						ENST00000420124.1																			0											c.(6262-6264)cafs									10	12	12					19																	36223712		1927	4110	6037	SO:0001589	frameshift_variant	0							g.chr19:36223712delC	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.6262delC	19.37:g.36223712delC	ENSP00000222270:p.Pro2088fs					KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.P2088fs	p.P2088fs							28	6262	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	ENST00000222270.7	37	c.6262delC	CCDS46055.1																																																																																				0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		17	101						17	101	---	---	---	---	-	36223712	C	-	36223712	7	5	115	1	0	1	0	1	0	0	0	0	9664	739	26	0	6372	0	MLL4	19	36223712	Frame_Shift_Del	DEL	C	TCGA-US-A77G-01A-11D-A32N-08	24068039	36223712	22905271	132	37318											
PRX	57716	broad.mit.edu	37	chr19	40902612	40902612	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agtttcatctctgacactttCggcagctgtacctctggaag	9	11	3	1	rs202113722		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:40902612C>G	ENST00000324001.7	-	7	1917	c.1647G>C	c.(1645-1647)ccG>ccC	p.P549P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	549	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P549P(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGACACTTTCGGCAGCTGTA	0.577																																						ENST00000324001.7																			1	Substitution - coding silent(1)	p.P549P(1)	ovary(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1645-1647)ccG>ccC		periaxin							89	102	97					19																	40902612		2202	4297	6499	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902612C>G	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.1647G>C	19.37:g.40902612C>G						PRX_ENST00000291825.7_3'UTR	p.P549P	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1917	-			549			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.1647G>C	CCDS33028.1																																																																																				0.577	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		14	1075	0	0	0	1	0	14	1075					G	40902612	C	G	40902612	2	3	115	1	0	0	0	0	0	0	0	1	12689	871	31	5		5	PRX	19	40902612	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	4678900	40902612	18226371	133	37319											
PSG7	5676	broad.mit.edu	37	chr19	43433639	43433639	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgcggctggcactcactgGgttccgtatttcacattcat	9	12	3	0	rs531432163	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:43433639G>T	ENST00000406070.2	-	0	760				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GCACTCACTGGGTTCCGTATT	0.507																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							235	249	244					19																	43433639		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433639G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433639G>T						PSG7_ENST00000406070.2_RNA				Q13046	PSG7_HUMAN			0	753	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.507	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		380	1503	1	0	4.73282e-69	1	5.18838e-69	380	1503					T	43433639	G	T	43433639	1	4	115	0	1	0	0	0	0	0	0	0	12707	1232	43	3		3	PSG7	19	43433639	RNA	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	2531027	43433639	15695344	134	37320											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		7	117						7	117	---	---	---	---	-	45381751	GAG	-	45381749	6	5	115	0	1	1	0	1	0	0	0	0	12890	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-US-A77G-01A-11D-A32N-08	1948110	45381749	13747234	135	37321											
MAMSTR	284358	broad.mit.edu	37	chr19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G													tctgaagttccaacttgtgtINSggggggggcgaggggctagg					rs373516785		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(484-486)ccafs		MEF2 activating motif and SAP domain containing transcriptional regulator																																				SO:0001589	frameshift_variant	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49218105_49218106insG	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs					MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs	p.P162fs			Q6ZN01	MASTR_HUMAN			6	548_549	-			162			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	ENST00000318083.6	37	c.485_486insC	CCDS46137.1																																																																																				0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		12	578						12	578	---	---	---	---	G	49218106	-	G	49218105	7	5	115	1	0	1	1	0	0	0	0	0	9250	1683	59	0	781	0	MAMSTR	19	49218105	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	3836356	49218105	9910878	136	37322											
KCNA7	3743	broad.mit.edu	37	chr19	49573549	49573549	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggaaatagtcagcacgcccGcaatggcacacagagagccc	12	13	1	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:49573549G>A	ENST00000221444.1	-	2	1497	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	381					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)	CAGCACGCCCGCAATGGCACA	0.557																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1141-1143)gCg>gTg		potassium voltage-gated channel, shaker-related subfamily, member 7							78	67	70					19																	49573549		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573549G>A	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.1142C>T	19.37:g.49573549G>A	ENSP00000221444:p.Ala381Val						p.A381V	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1497	-		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)	381					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.1142C>T	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862088	0.91511	.	.	ENSG00000104848	ENST00000221444	D	0.98313	-4.86	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97096	0.9051	L	0.48260	1.515	0.80722	D	1	D	0.60575	0.988	P	0.47251	0.542	D	0.97729	1.0201	10	0.72032	D	0.01	.	16.6617	0.85242	0.0:0.0:1.0:0.0	.	381	Q96RP8	KCNA7_HUMAN	V	381	ENSP00000221444:A381V	ENSP00000221444:A381V	A	-	2	0	KCNA7	54265361	1.000000	0.71417	0.982000	0.44146	0.872000	0.50106	9.860000	0.99555	2.321000	0.78463	0.491000	0.48974	GCG		0.557	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		4	197	0	0	0	1	0	4	197					A	49573549	G	A	49573549	3	1	115	1	0	0	0	0	1	0	0	0	8038	1087	38	1	232	1	KCNA7	19	49573549	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	355444	49573549	9555434	137	37323											
NLRP8	126205	broad.mit.edu	37	chr19	56490816	56490816	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccatggcttccatgctccGcaaaaaccaacatctgagac	8	14	1	1	rs571690226	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr19:56490816G>A	ENST00000291971.3	+	9	3004	c.2933G>A	c.(2932-2934)cGc>cAc	p.R978H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R959H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	978					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)		TCCATGCTCCGCAAAAACCAA	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		21355	0.002		0.0	False		,,,				2504	0.0					ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2932-2934)cGc>cAc		NLR family, pyrin domain containing 8							132	125	127					19																	56490816		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56490816G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2933G>A	19.37:g.56490816G>A	ENSP00000291971:p.Arg978His					NLRP8_ENST00000590542.1_Missense_Mutation_p.R959H	p.R978H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	9	3004	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	978					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2933G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.607	0.480451	0.12581	.	.	ENSG00000179709	ENST00000291971	T	0.53857	0.6	2.03	-3.75	0.04372	.	.	.	.	.	T	0.48696	0.1514	L	0.58354	1.805	0.09310	N	1	P;P	0.47962	0.903;0.716	P;B	0.48901	0.594;0.39	T	0.42849	-0.9427	9	0.37606	T	0.19	.	5.4095	0.16341	0.0:0.1425:0.5498:0.3077	.	959;978	Q86W28-2;Q86W28	.;NALP8_HUMAN	H	978	ENSP00000291971:R978H	ENSP00000291971:R978H	R	+	2	0	NLRP8	61182628	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.984000	0.03755	-1.097000	0.03042	-0.251000	0.11542	CGC		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		5	456	0	0	0	1	0	5	456					A	56490816	G	A	56490816	3	1	115	1	0	0	0	0	1	0	0	0	10525	1087	38	1	2967	1	NLRP8	19	56490816	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	6917267	56490816	2638167	138	37324											
C20orf26	26074	broad.mit.edu	37	chr20	20071525	20071525	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atctcatgccaatatttatgCgctatgacacaattctgaag	6	9	2	2	rs573435093		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:20071525C>T	ENST00000245957.5	+	7	680	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	C20orf26_ENST00000377306.1_Missense_Mutation_p.R202C|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R202C|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		202										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)		AATATTTATGCGCTATGACAC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		20456	0.0		0.0	False		,,,				2504	0.001					ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(604-606)Cgc>Tgc		chromosome 20 open reading frame 26							212	195	200					20																	20071525		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20071525C>T																												ENST00000245957.5:c.604C>T	20.37:g.20071525C>T	ENSP00000245957:p.Arg202Cys					C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R202C|C20orf26_ENST00000377306.1_Missense_Mutation_p.R202C|C20orf26_ENST00000389656.3_5'UTR	p.R202C	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	7	680	+			202					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.604C>T	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292464	0.40594	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000472660	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.62	4.68	0.58851	Acyl-CoA N-acyltransferase (2);	0.294938	0.35013	N	0.003506	T	0.53610	0.1807	M	0.61703	1.905	0.35895	D	0.829995	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	P;D;P;P	0.64595	0.804;0.927;0.905;0.629	T	0.65776	-0.6086	10	0.62326	D	0.03	.	12.4192	0.55510	0.0:0.8606:0.0:0.1394	.	202;202;156;202	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	C	156;202;202;202;202;202;98	ENSP00000345553:R156C;ENSP00000245957:R202C;ENSP00000366521:R202C;ENSP00000414537:R202C;ENSP00000420498:R98C	ENSP00000245957:R202C	R	+	1	0	C20orf26	20019525	0.585000	0.26774	0.174000	0.22961	0.238000	0.25445	2.466000	0.45084	1.377000	0.46286	0.655000	0.94253	CGC		0.433	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			6	890	0	0	0	1	0	6	890					T	20071525	C	T	20071525	3	4	115	1	0	0	0	0	1	0	0	0	2113	768	27	1	626	1	C20orf26	20	20071525	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08		20071525	42953995	139	37325											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				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						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		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.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	448						7	448	---	---	---	---	-	25657232	TG	-	25657231	7	5	115	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-US-A77G-01A-11D-A32N-08	5585706	25657231	37368289	140	37326											
ZHX3	23051	broad.mit.edu	37	chr20	39832962	39832962	+	Frame_Shift_Del	DEL	T	T	-													attctccttgagtgtatgaaTttttttggcttcagctttgc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:39832962delT	ENST00000309060.3	-	4	1010	c.595delA	c.(595-597)attfs	p.I199fs	ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	199					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGTGTATGAATTTTTTTGGCT	0.488																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(595-597)ttfs		zinc fingers and homeoboxes 3							108	106	107					20																	39832962		2203	4300	6503	SO:0001589	frameshift_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832962delT	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.595delA	20.37:g.39832962delT	ENSP00000312222:p.Ile199fs					ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs	p.I199fs			Q9H4I2	ZHX3_HUMAN			4	1010	-		Myeloproliferative disorder(115;0.00425)	199					E1P5W5|F5H820|O43145|Q6NUJ7	Frame_Shift_Del	DEL	ENST00000309060.3	37	c.595delA	CCDS13315.1																																																																																				0.488	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		10	585						10	585	---	---	---	---	-	39832962	T	-	39832962	7	5	115	1	0	1	0	1	0	0	0	0	17730	1493	52	0	2283	0	ZHX3	20	39832962	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	14175731	39832962	23192558	141	37327											
PREX1	57580	broad.mit.edu	37	chr20	47247332	47247332	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaccgctccaggtaaaatgcCctgcgagagaaagatgggaa	13	9	0	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:47247332C>A	ENST00000371941.3	-	36	4549	c.4527G>T	c.(4525-4527)agG>agT	p.R1509S	PREX1_ENST00000396220.1_Splice_Site_p.G1544V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1509					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)			GGTAAAATGCCCTGCGAGAGA	0.622																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.e35-1		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							73	64	67					20																	47247332		2203	4300	6503	SO:0001630	splice_region_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47247332C>A	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.4527-1G>T	20.37:g.47247332C>A						PREX1_ENST00000371941.3_Splice_Site_p.R1509_splice	p.G1544_splice			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		35	4653	-			0					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Splice_Site	SNP	ENST00000371941.3	37	c.4630_splice	CCDS13410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.592|9.592	1.126450|1.126450	0.20959|0.20959	.|.	.|.	ENSG00000124126|ENSG00000124126	ENST00000396220|ENST00000371941	T|T	0.62941|0.65732	-0.01|-0.17	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.000000	.|0.64402	.|U	.|0.000010	T|T	0.71643|0.71643	0.3364|0.3364	M|M	0.71581|0.71581	2.175|2.175	0.48040|0.48040	D|D	0.999579|0.999579	.|D;D	.|0.58620	.|0.971;0.983	.|P;P	.|0.57324	.|0.78;0.818	T|T	0.75428|0.75428	-0.3321|-0.3321	7|10	0.87932|0.87932	D|D	0|0	.|.	10.5481|10.5481	0.45072|0.45072	0.0:0.9103:0.0:0.0897|0.0:0.9103:0.0:0.0897	.|.	.|1509;806	.|Q8TCU6;Q8TCU6-2	.|PREX1_HUMAN;.	V|S	1544|1509	ENSP00000379522:G1544V|ENSP00000361009:R1509S	ENSP00000379522:G1544V|ENSP00000361009:R1509S	G|R	-|-	2|3	0|2	PREX1|PREX1	46680739|46680739	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.439000|0.439000	0.31926|0.31926	3.607000|3.607000	0.54102|0.54102	1.974000|1.974000	0.57490|0.57490	0.558000|0.558000	0.71614|0.71614	GGG|AGG		0.622	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	Missense_Mutation	70	227	1	0	1.48005e-37	1	1.60534e-37	70	227					A	47247332	C	A	47247332	5	1	115	1	0	0	0	0	0	0	1	0	12523	637	22	3	472	3	PREX1	20	47247332	Splice_Site	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	7414370	47247332	15778188	142	37328											
MC3R	4159	broad.mit.edu	37	chr20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccggagcctggaattgcGcaacacctttagggagattc	11	10	0	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(919-921)cGc>cAc		melanocortin 3 receptor							168	160	163					20																	54824819		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824819G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.920G>A	20.37:g.54824819G>A	ENSP00000243911:p.Arg307His						p.R307H	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	1032	+			344					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.920G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520625	0.64747	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.82917	0.5141	H	0.97440	4.005	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.89536	0.3789	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	344	P41968	MC3R_HUMAN	H	307	ENSP00000243911:R307H	ENSP00000243911:R307H	R	+	2	0	MC3R	54258226	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	9.731000	0.98807	2.362000	0.80069	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			7	809	0	0	0	1	0	7	809					A	54824819	G	A	54824819	3	1	115	1	0	0	0	0	1	0	0	0	9406	1087	38	1	922	1	MC3R	20	54824819	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	7577487	54824819	8200701	143	37329											
MYT1	4661	broad.mit.edu	37	chr20	62843476	62843476	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtcacgtgaacagcaaccGcaacacgcacagaaggtact	11	12	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr20:62843476G>A	ENST00000328439.1	+	9	1866	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MYT1_ENST00000360149.4_Missense_Mutation_p.R203H|MYT1_ENST00000536311.1_Missense_Mutation_p.R501H	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)	p.R501H(1)		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)					AACAGCAACCGCAACACGCAC	0.662																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			1	Substitution - Missense(1)	p.R501H(1)	large_intestine(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1501-1503)cGc>cAc		myelin transcription factor 1							118	111	113					20																	62843476		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62843476G>A	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.1502G>A	20.37:g.62843476G>A	ENSP00000327465:p.Arg501His					MYT1_ENST00000360149.4_Missense_Mutation_p.R203H|MYT1_ENST00000328439.1_Missense_Mutation_p.R501H	p.R501H			Q01538	MYT1_HUMAN			9	1866	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		501					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1502G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717521	0.68844	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.68331	0.55;-0.32;1.55	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.80525	-0.1344	10	0.72032	D	0.01	-24.8969	17.4965	0.87719	0.0:0.0:1.0:0.0	.	501;501;203	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	H	203;501;501	ENSP00000353269:R203H;ENSP00000327465:R501H;ENSP00000442412:R501H	ENSP00000327465:R501H	R	+	2	0	MYT1	62313920	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.725000	0.98778	2.187000	0.69744	0.557000	0.71058	CGC		0.662	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		6	715	0	0	0	1	0	6	715					A	62843476	G	A	62843476	3	1	115	1	0	0	0	0	1	0	0	0	10147	1087	38	1	1528	1	MYT1	20	62843476	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	8018657	62843476	182044	144	37330											
TFIP11	24144	broad.mit.edu	37	chr22	26906183	26906185	+	In_Frame_Del	DEL	TCA	TCA	-													tctcaaagttctcccgctcgTcatcatcatcatcaatgcgg					rs145794160	byFrequency	TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:26906183_26906185delTCA	ENST00000407690.1	-	4	337_339	c.54_56delTGA	c.(52-57)gatgac>gac	p.18_19DD>D	CTA-445C9.14_ENST00000566814.1_RNA|TFIP11_ENST00000405938.1_In_Frame_Del_p.18_19DD>D|TFIP11_ENST00000407148.1_In_Frame_Del_p.18_19DD>D|CTA-445C9.14_ENST00000565764.1_RNA|TFIP11_ENST00000407431.1_In_Frame_Del_p.18_19DD>D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	18	Poly-Asp.|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						CTCCCGCTCGTCATCATCATCAT	0.532																																						ENST00000407690.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						c.(52-57)gac>ga		tuftelin interacting protein 11			,	3,4261		1,1,2130					,	-10.5	0			93	1,8253		0,1,4126	no	coding,coding	TFIP11	NM_012143.2,NM_001008697.1	,	1,2,6256	A1A1,A1R,RR		0.0121,0.0704,0.032	,	,		4,12514				SO:0001651	inframe_deletion	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26906183_26906185delTCA	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.54_56delTGA	22.37:g.26906192_26906194delTCA	ENSP00000384421:p.Asp19del					TFIP11_ENST00000407431.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000407148.1_In_Frame_Del_p.DD18del|TFIP11_ENST00000405938.1_In_Frame_Del_p.DD18del	p.DD18del	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN			4	337_339	-			18			Poly-Asp.		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	In_Frame_Del	DEL	ENST00000407690.1	37	c.54_56delTGA	CCDS13838.1																																																																																				0.532	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		7	468						7	468	---	---	---	---	-	26906185	TCA	-	26906183	7	5	115	1	0	1	0	1	0	0	0	0	15859	1667	58	0	2505	0	TFIP11	22	26906183	In_Frame_Del	DEL	TCA	TCGA-US-A77G-01A-11D-A32N-08		26906183	24398383	145	37331											
PATZ1	23598	broad.mit.edu	37	chr22	31740473	31740473	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtgggacagcttgtgCcggttaagatgatacacatc	12	9	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:31740473C>T	ENST00000266269.5	-	1	1745	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R|PATZ1_ENST00000351933.4_Silent_p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	372					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)	p.R372R(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ACAGCTTGTGCCGGTTAAGAT	0.582																																						ENST00000266269.5																		EWSR1/PATZ1(2)	2	Substitution - coding silent(2)	p.R372R(2)	kidney(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1114-1116)cgG>cgA		POZ (BTB) and AT hook containing zinc finger 1							113	108	110					22																	31740473		2203	4300	6503	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740473C>T	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.1116G>A	22.37:g.31740473C>T						PATZ1_ENST00000351933.4_Silent_p.R372R|PATZ1_ENST00000405309.3_Silent_p.R372R|PATZ1_ENST00000215919.3_Silent_p.R372R	p.R372R	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			1	1745	-			372					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.1116G>A	CCDS13894.1																																																																																				0.582	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		7	576	0	0	0	1	0	7	576					T	31740473	C	T	31740473	2	4	115	1	0	0	0	0	0	0	0	1	11518	726	26	2		2	PATZ1	22	31740473	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	4834290	31740473	19564093	146	37332											
CYTH4	27128	broad.mit.edu	37	chr22	37707094	37707094	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	acaactgcctctactacttcGagttcaccactgtgagcagg	8	13	2	1			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chr22:37707094G>A	ENST00000248901.6	+	10	1061	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	292	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CTACTACTTCGAGTTCACCAC	0.612																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(874-876)Gag>Aag		cytohesin 4							157	125	136					22																	37707094		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37707094G>A	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.874G>A	22.37:g.37707094G>A	ENSP00000248901:p.Glu292Lys						p.E292K	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			10	1061	+			292			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.874G>A	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.46|16.46	3.130571|3.130571	0.56828|0.56828	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.72725|.	-0.68|.	4.7|4.7	4.7|4.7	0.59300|0.59300	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.054141|.	0.64402|.	D|.	0.000001|.	T|T	0.46092|0.46092	0.1375|0.1375	N|N	0.10972|0.10972	0.075|0.075	0.80722|0.80722	D|D	1|1	P|.	0.40211|.	0.707|.	B|.	0.32583|.	0.148|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|5	0.31617|.	T|.	0.26|.	.|.	16.7637|16.7637	0.85519|0.85519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	292|.	Q9UIA0|.	CYH4_HUMAN|.	K|Q	292|44	ENSP00000248901:E292K|.	ENSP00000248901:E292K|.	E|R	+|+	1|2	0|0	CYTH4|CYTH4	36037040|36037040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	7.751000|7.751000	0.85126|0.85126	2.309000|2.309000	0.77851|0.77851	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			140	460	0	0	0	1	0	140	460					A	37707094	G	A	37707094	3	1	115	1	0	0	0	0	1	0	0	0	4217	1059	37	1	912	1	CYTH4	22	37707094	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	5966621	37707094	13597472	147	37333											
IL3RA	3563	broad.mit.edu	37	chrX	1497572	1497572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agtgcgaccaggaggagggcGcaaacacacgtgcctggcgg	17	11	0	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:1497572G>A	ENST00000331035.4	+	10	1244	c.895G>A	c.(895-897)Gca>Aca	p.A299T	IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	299					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		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)	GGAGGAGGGCGCAAACACACG	0.672																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(895-897)Gca>Aca		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						113	90	98					X																	1497572		2201	4295	6496	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1497572G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.895G>A	X.37:g.1497572G>A	ENSP00000327890:p.Ala299Thr					IL3RA_ENST00000381469.2_Missense_Mutation_p.A221T	p.A299T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			10	1244	+		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)	299					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.895G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.030	-1.340363	0.01277	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;D	0.95918	1.53;-3.85	0.798	-1.59	0.08453	.	113.382000	0.00775	N	0.001236	D	0.86834	0.6028	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.09377	0.004;0.0	T	0.80405	-0.1396	9	0.14252	T	0.57	.	.	.	.	.	220;299	P26951-2;P26951	.;IL3RA_HUMAN	T	299;221	ENSP00000327890:A299T;ENSP00000370878:A221T	ENSP00000327890:A299T	A	+	1	0	IL3RA	1457572	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.867000	0.00346	-0.741000	0.04797	-0.510000	0.04470	GCA		0.672	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			4	188	0	0	0	1	0	4	188					A	1497572	G	A	1497572	3	1	115	1	0	0	0	0	1	0	0	0	7725	1087	38	1	929	1	IL3RA	23	1497572	Missense_Mutation	SNP	G	TCGA-US-A77G-01A-11D-A32N-08		1497572	153772988	148	37334											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-													gactatcggaccgagcaaggGgaggaggaggaggaggagga							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		9	104						9	104	---	---	---	---	-	47030563	GGA	-	47030561	7	5	115	1	0	1	0	1	0	0	0	0	13161	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-US-A77G-01A-11D-A32N-08	45532989	47030561	108239999	149	37335											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	8	8	3	2	rs61754468		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102	92	95					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		9	249	0	0	0	1	0	9	249					C	73811938	G	C	73811938	2	2	115	1	0	0	0	0	0	0	0	1	13440	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	26781377	73811938	81458622	150	37336											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C													tcccacttcctgagcctttgINSccccccccagagttcttgcc							TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		9	858						9	858	---	---	---	---	C	107977803	-	C	107977802	7	5	115	1	0	1	1	0	0	0	0	0	7872	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-US-A77G-01A-11D-A32N-08	34165864	107977802	47292758	151	37337											
WDR44	54521	broad.mit.edu	37	chrX	117527019	117527019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttatctactaaagattttgCcgctgtggaagaagtggccc	10	9	1	2			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:117527019C>T	ENST00000254029.3	+	4	1006	c.611C>T	c.(610-612)gCc>gTc	p.A204V	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.A204V|WDR44_ENST00000371822.5_Missense_Mutation_p.A179V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	204						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.A204G(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGATTTTGCCGCTGTGGAA	0.488																																						ENST00000254029.3																			2	Substitution - Missense(2)	p.A204G(2)	lung(2)	breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(610-612)gCc>gTc		WD repeat domain 44							144	125	132					X																	117527019		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527019C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"WD repeat domain containing"	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.611C>T	X.37:g.117527019C>T	ENSP00000254029:p.Ala204Val					WDR44_ENST00000371822.5_Missense_Mutation_p.A179V|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.A204V	p.A204V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			4	1006	+			204					B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.611C>T	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	7.626	0.677788	0.14841	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.73152	-0.72;-0.14;-0.02	5.69	2.87	0.33458	.	0.693990	0.14300	N	0.328333	T	0.50497	0.1619	N	0.19112	0.55	0.21473	N	0.999679	B;B;B	0.18166	0.026;0.01;0.007	B;B;B	0.23419	0.046;0.022;0.015	T	0.36962	-0.9726	10	0.33940	T	0.23	-0.7721	2.9206	0.05767	0.1398:0.5526:0.1462:0.1614	.	179;204;204	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	V	179;204;204	ENSP00000360887:A179V;ENSP00000254029:A204V;ENSP00000360890:A204V	ENSP00000254029:A204V	A	+	2	0	WDR44	117411047	0.995000	0.38212	0.182000	0.23118	0.191000	0.23601	0.769000	0.26604	0.153000	0.19213	-0.253000	0.11424	GCC		0.488	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		5	415	0	0	0	1	0	5	415					T	117527019	C	T	117527019	3	4	115	1	0	0	0	0	1	0	0	0	17350	739	26	2	625	2	WDR44	23	117527019	Missense_Mutation	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	9549217	117527019	37743541	152	37338											
MAGEC3	139081	broad.mit.edu	37	chrX	140985098	140985098	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccctgactgatatggacccCgacaaccactcctatttctt	6	15	1	2	rs371218735		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:140985098C>T	ENST00000298296.1	+	7	1554	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	MAGEC3_ENST00000544766.1_Silent_p.P220P|MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000536088.1_Silent_p.P220P|MAGEC3_ENST00000409007.1_Silent_p.P220P	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	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)					ATATGGACCCCGACAACCACT	0.448													C|||	4	0.0010596	0.0	0.0	3775	,	,		13728	0.004		0.0	False		,,,				2504	0.0					ENST00000298296.1																			0				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						c.(1552-1554)ccC>ccT		melanoma antigen family C, 3							156	151	153					X																	140985098		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985098C>T	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.1554C>T	X.37:g.140985098C>T						MAGEC3_ENST00000443323.2_Silent_p.P140P|MAGEC3_ENST00000409007.1_Silent_p.P220P|MAGEC3_ENST00000544766.1_Silent_p.P220P|MAGEC3_ENST00000536088.1_Silent_p.P220P	p.P518P	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1554	+	Acute lymphoblastic leukemia(192;6.56e-05)		518			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1554C>T	CCDS14676.1																																																																																				0.448	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		8	510	0	0	0	1	0	8	510					T	140985098	C	T	140985098	2	4	115	1	0	0	0	0	0	0	0	1	9223	639	23	1		1	MAGEC3	23	140985098	Silent	SNP	C	TCGA-US-A77G-01A-11D-A32N-08	23458079	140985098	14285462	153	37339											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		11	1168	0	0	0	1	0	11	1168					A	140994960	G	A	140994960	2	1	115	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	9862	140994960	14275600	154	37340											
PRRG3	79057	broad.mit.edu	37	chrX	150869406	150869406	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctacgaggaggtgactgcGccccaagagagcagcagtga	14	11	0	3			TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:150869406G>A	ENST00000370353.3	+	4	987	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PRRG3_ENST00000538575.1_Silent_p.A199A			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	199						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACTGCGCCCCAAGAGA	0.622																																						ENST00000370353.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24						c.(595-597)gcG>gcA		proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							74	61	66					X																	150869406		2203	4300	6503	SO:0001819	synonymous_variant	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869406G>A	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.597G>A	X.37:g.150869406G>A						PRRG3_ENST00000538575.1_Silent_p.A199A	p.A199A			Q9BZD7	TMG3_HUMAN			4	987	+	Acute lymphoblastic leukemia(192;6.56e-05)		199					A1A523|A1A575|Q8N2N6	Silent	SNP	ENST00000370353.3	37	c.597G>A	CCDS14699.1																																																																																				0.622	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		120	126	0	0	0	1	0	120	126					A	150869406	G	A	150869406	2	1	115	1	0	0	0	0	0	0	0	1	12654	1074	38	1		1	PRRG3	23	150869406	Silent	SNP	G	TCGA-US-A77G-01A-11D-A32N-08	9874446	150869406	4401154	155	37341											
SRPK3	26576	broad.mit.edu	37	chrX	153050878	153050892	+	In_Frame_Del	DEL	CACAGTTCAGCGCCT	CACAGTTCAGCGCCT	-													gtggcccctagagcaggccaCacagttcagcgcctttctgc					rs371187433|rs376315195		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	g.chrX:153050878_153050892delCACAGTTCAGCGCCT	ENST00000370101.3	+	15	1653_1667	c.1607_1621delCACAGTTCAGCGCCT	c.(1606-1623)acacagttcagcgccttt>att	p.536_541TQFSAF>I	SRPK3_ENST00000370100.1_In_Frame_Del_p.461_466TQFSAF>I|SRPK3_ENST00000370108.3_In_Frame_Del_p.503_508TQFSAF>I|SRPK3_ENST00000393786.3_In_Frame_Del_p.502_507TQFSAF>I|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000370104.1_In_Frame_Del_p.535_540TQFSAF>I|SRPK3_ENST00000489426.1_In_Frame_Del_p.603_608TQFSAF>I	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	536	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)					GAGCAGGCCACACAGTTCAGCGCCTTTCTGCTGCC	0.628																																					Esophageal Squamous(167;766 3400 32156)	ENST00000489426.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13						c.(1807-1824)att>a		SRSF protein kinase 3																																				SO:0001651	inframe_deletion	26576				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	g.chrX:153050878_153050892delCACAGTTCAGCGCCT	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.1607_1621delCACAGTTCAGCGCCT	X.37:g.153050878_153050892delCACAGTTCAGCGCCT	ENSP00000359119:p.Thr536_Phe541delinsIle					SRPK3_ENST00000370108.3_In_Frame_Del_p.TQFSAF503del|SRPK3_ENST00000393786.3_In_Frame_Del_p.TQFSAF502del|SRPK3_ENST00000370104.1_In_Frame_Del_p.TQFSAF535del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQFSAF536del|SRPK3_ENST00000370100.1_In_Frame_Del_p.TQFSAF461del	p.TQFSAF603del			Q9UPE1	SRPK3_HUMAN			21	4174_4188	+	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)		536					Q13583|Q4F970|Q562F5|Q9UM62	In_Frame_Del	DEL	ENST00000370101.3	37	c.1808_1822delCACAGTTCAGCGCCT	CCDS35441.1																																																																																				0.628	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354501.1	NM_014370		101	224						101	224	---	---	---	---	-	153050892	CACAGTTCAGCGCCT	-	153050878	7	5	115	1	0	1	0	1	0	0	0	0	15213	478	17	0	1665	0	SRPK3	23	153050878	In_Frame_Del	DEL	CACAGTTCAGCGCCT	TCGA-US-A77G-01A-11D-A32N-08	2181472	153050878	2219682	156	37342											
F8	2157	broad.mit.edu	37	chrX	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-													gaatggctaaagaaaggttaTtttttttggctccttgtaag					rs387906455		TCGA-US-A77G-01A-11D-A32N-08	TCGA-US-A77G-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1c1ef67-68f6-45f8-a296-7bd9201465b8	f15f5b8d-5e60-4946-9975-3fbff641efea	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																																						ENST00000360256.4																			4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	p.N1460fs*5(2)|p.N1460fs*2(2)	haematopoietic_and_lymphoid_tissue(2)|breast(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	GRCh37	CD910498	F8	D		c.(4378-4380)atfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						86	84	85					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157686delT	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						p.N1461fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4579	-	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)		1461			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4379delA	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			11	339						11	339	---	---	---	---	-	154157686	T	-	154157686	7	5	115	1	0	1	0	1	0	0	0	0	5368	1493	52	0	2756	0	F8	23	154157686	Frame_Shift_Del	DEL	T	TCGA-US-A77G-01A-11D-A32N-08	1106808	154157686	1112874	157	37343											
GABRD	2563	broad.mit.edu	37	chr1	1956774	1956774	+	Splice_Site	DEL	C	C	-													ttctgctctttccttgcaggCccccccgtgaatgtggccct							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.183delC	c.(181-183)ggc>gg	p.G61fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCTTGCAGGCCCCCCCGTGA	0.647																																						ENST00000378585.4																			1	Insertion - Frameshift(1)	p.V64fs*365(1)	lung(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.e3-1		gamma-aminobutyric acid (GABA) A receptor, delta							70	76	74					1																	1956774		2203	4299	6502	SO:0001630	splice_region_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956774delC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.182-1C>-	1.37:g.1956774delC							p.G61_splice	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	266	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	61					Q8N4N9	Splice_Site	DEL	ENST00000378585.4	37	c.181_splice	CCDS36.1																																																																																				0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	Frame_Shift_Del	7	811						7	811	---	---	---	---	-	1956774	C	-	1956774	8	5	116	1	0	1	0	1	0	0	1	0	6196	753	26	0	193	0	GABRD	1	1956774	Splice_Site	DEL	C	TCGA-US-A77J-01A-11D-A32N-08		1956774	247293847	1	37344											
WDR8	49856	broad.mit.edu	37	chr1	3551634	3551634	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacgtgattaaggatgCgcacctgaggaaggaaacca	12	8	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:3551634C>T	ENST00000270708.7	-	8	816	c.743G>A	c.(742-744)cGc>cAc	p.R248H	WRAP73_ENST00000378322.3_Missense_Mutation_p.R248H	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	248						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ATTAAGGATGCGCACCTGAGG	0.547																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(742-744)cGc>cAc		WD repeat containing, antisense to TP73							157	152	153					1																	3551634		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3551634C>T	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.743G>A	1.37:g.3551634C>T	ENSP00000270708:p.Arg248His					WRAP73_ENST00000270708.7_Missense_Mutation_p.R248H	p.R248H			Q9P2S5	WRP73_HUMAN			8	801	-			248					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.743G>A	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007781	0.93287	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.67523	-0.27;-0.27;3.36	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84871	0.0825	10	0.66056	D	0.02	-50.4148	18.3753	0.90433	0.0:1.0:0.0:0.0	.	248	Q9P2S5	WRP73_HUMAN	H	248;248;203	ENSP00000270708:R248H;ENSP00000367573:R248H;ENSP00000416192:R203H	ENSP00000270708:R248H	R	-	2	0	WRAP73	3541494	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.539000	0.73856	2.652000	0.90054	0.655000	0.94253	CGC		0.547	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			8	695	0	0	0	1	0	8	695					T	3551634	C	T	3551634	3	4	116	1	0	0	0	0	1	0	0	0	17383	768	27	1	659	1	WDR8	1	3551634	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	1594860	3551634	245698987	2	37345											
NPHP4	261734	broad.mit.edu	37	chr1	5923425	5923425	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccactctctgactaggcGcaaactgcaagccgatggtg	10	14	1	1	rs537985340	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:5923425G>A	ENST00000378156.4	-	30	4446	c.4181C>T	c.(4180-4182)gCg>gTg	p.A1394V	MIR4689_ENST00000582517.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1394					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACTAGGCGCAAACTGCAA	0.542													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19563	0.0		0.0	False		,,,				2504	0.0					ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(4180-4182)gCg>gTg		nephronophthisis 4							164	177	173					1																	5923425		2094	4205	6299	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5923425G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4181C>T	1.37:g.5923425G>A	ENSP00000367398:p.Ala1394Val					NPHP4_ENST00000478423.2_5'UTR	p.A1394V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	30	4446	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1394					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.4181C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.278111	0.40294	.	.	ENSG00000131697	ENST00000378156	D	0.88664	-2.41	5.27	-3.02	0.05446	.	0.440966	0.20854	N	0.084470	T	0.75693	0.3884	L	0.49350	1.555	0.09310	N	1	B	0.22276	0.067	B	0.15484	0.013	T	0.63994	-0.6511	10	0.02654	T	1	.	1.8	0.03069	0.265:0.2237:0.3959:0.1155	.	1394	O75161	NPHP4_HUMAN	V	1394	ENSP00000367398:A1394V	ENSP00000367398:A1394V	A	-	2	0	NPHP4	5846012	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	1.097000	0.30988	-1.060000	0.03189	-0.136000	0.14681	GCG		0.542	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			6	658	0	0	0	1	0	6	658					A	5923425	G	A	5923425	3	1	116	1	0	0	0	0	1	0	0	0	10623	1087	38	1	103	1	NPHP4	1	5923425	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	2371791	5923425	243327196	3	37346											
FAM43B	163933	broad.mit.edu	37	chr1	20879636	20879636	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgcttgggccgtgtgttccGcagccggcgccagaaagtgg	17	12	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:20879636G>A	ENST00000332947.4	+	1	705	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	57										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)		CGTGTGTTCCGCAGCCGGCGC	0.692																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(169-171)cGc>cAc		family with sequence similarity 43, member B							47	47	47					1																	20879636		2203	4300	6503	SO:0001583	missense	163933							g.chr1:20879636G>A	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.170G>A	1.37:g.20879636G>A	ENSP00000331397:p.Arg57His						p.R57H	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	705	+		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)	57					A5PKT8|A5PL01	Missense_Mutation	SNP	ENST00000332947.4	37	c.170G>A	CCDS209.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458134	0.43634	.	.	ENSG00000183114	ENST00000332947	.	.	.	4.17	4.17	0.49024	.	0.144774	0.45606	U	0.000351	T	0.38852	0.1056	N	0.14661	0.345	0.40418	D	0.979817	B	0.27732	0.187	B	0.16722	0.016	T	0.36016	-0.9765	9	0.40728	T	0.16	-15.4057	13.9497	0.64109	0.0:0.0:1.0:0.0	.	57	Q6ZT52	FA43B_HUMAN	H	57	.	ENSP00000331397:R57H	R	+	2	0	FAM43B	20752223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.070000	0.64376	1.875000	0.54330	0.455000	0.32223	CGC		0.692	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		5	181	0	0	0	1	0	5	181					A	20879636	G	A	20879636	3	1	116	1	0	0	0	0	1	0	0	0	5588	1087	38	1	172	1	FAM43B	1	20879636	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	14956211	20879636	228370985	4	37347											
ADC	113451	broad.mit.edu	37	chr1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C													gggttcccccttttgggggaINScccaggcctgccacatcacc					rs576544248		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)accfs	p.T401fs	ADC_ENST00000373443.3_Frame_Shift_Ins_p.T401fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		401					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTTTTGGGGGACCCAGGCCTGC	0.624																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1201-1203)ccafs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583674_33583675insC																												ENST00000294517.6:c.1204dupC	1.37:g.33583677_33583677dupC	ENSP00000294517:p.Thr401fs					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	p.P401fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1788_1789	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	401					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1201_1202insC	CCDS375.1																																																																																				0.624	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			13	609						13	609	---	---	---	---	C	33583675	-	C	33583674	7	5	116	1	0	1	1	0	0	0	0	0	287	275	10	0	1231	0	ADC	1	33583674	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08	12704038	33583674	215666947	5	37348											
FAM159A	348378	broad.mit.edu	37	chr1	53108560	53108560	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgctctcataggcctgtccGtagcagcagtggttcttctc	11	13	3	0	rs557241775	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:53108560G>A	ENST00000517870.1	+	2	358	c.208G>A	c.(208-210)Gta>Ata	p.V70I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	70						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCTGTCCGTAGCAGCAGT	0.522													g|||	2	0.000399361	0.0	0.0	5008	,	,		17083	0.0		0.0	False		,,,				2504	0.002					ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(208-210)Gta>Ata		family with sequence similarity 159, member A							268	258	261					1																	53108560		2085	4199	6284	SO:0001583	missense	348378					integral to membrane		g.chr1:53108560G>A		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.208G>A	1.37:g.53108560G>A	ENSP00000429726:p.Val70Ile					FAM159A_ENST00000401050.3_3'UTR	p.V70I	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			2	358	+			70					Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.208G>A	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.750825	0.00663	.	.	ENSG00000182183	ENST00000517870	.	.	.	4.7	-3.8	0.04307	.	0.710719	0.11665	N	0.541468	T	0.05960	0.0155	N	0.00289	-1.7	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.41502	-0.9505	9	0.02654	T	1	.	12.7823	0.57485	0.6176:0.0:0.3824:0.0	.	70	Q6UWV7	F159A_HUMAN	I	70	.	ENSP00000429726:V70I	V	+	1	0	FAM159A	52881148	0.890000	0.30428	0.951000	0.38953	0.004000	0.04260	0.743000	0.26231	-0.564000	0.06070	-2.008000	0.00441	GTA		0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		9	1242	0	0	0	1	0	9	1242					A	53108560	G	A	53108560	3	1	116	1	0	0	0	0	1	0	0	0	5489	1145	40	1	214	1	FAM159A	1	53108560	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	19524886	53108560	196142061	6	37349											
C1orf168	199920	broad.mit.edu	37	chr1	57257973	57257973	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaagccccatgcctttttgCccttccagatggatggcctt	9	13	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:57257973C>T	ENST00000343433.6	-	2	593	c.513G>A	c.(511-513)ggG>ggA	p.G171G	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	171										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						TGCCTTTTTGCCCTTCCAGAT	0.498																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(511-513)ggG>ggA		chromosome 1 open reading frame 168							98	95	96					1																	57257973		2203	4300	6503	SO:0001819	synonymous_variant	199920							g.chr1:57257973C>T	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.513G>A	1.37:g.57257973C>T						C1orf168_ENST00000484327.1_5'UTR	p.G171G	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			2	593	-			171					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.513G>A	CCDS30729.1																																																																																				0.498	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		6	513	0	0	0	1	0	6	513					T	57257973	C	T	57257973	2	4	116	1	0	0	0	0	0	0	0	1	2019	726	26	2		2	C1orf168	1	57257973	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	4149413	57257973	191992648	7	37350											
CELSR2	1952	broad.mit.edu	37	chr1	109807082	109807082	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctgtccctcccagggtgtgCgggtgagcgatacgccggag	16	13	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:109807082C>T	ENST00000271332.3	+	11	5357	c.5296C>T	c.(5296-5298)Cgg>Tgg	p.R1766W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1766	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCAGGGTGTGCGGGTGAGCGA	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(5296-5298)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							82	73	76					1																	109807082		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109807082C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5296C>T	1.37:g.109807082C>T	ENSP00000271332:p.Arg1766Trp						p.R1766W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	11	5357	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1766			Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5296C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228775	0.39399	.	.	ENSG00000143126	ENST00000271332	T	0.81247	-1.47	4.99	1.79	0.24919	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82710	0.5096	L	0.58428	1.81	0.50313	D	0.99986	D	0.89917	1.0	D	0.87578	0.998	T	0.82575	-0.0389	9	0.42905	T	0.14	.	14.6648	0.68899	0.6517:0.3483:0.0:0.0	.	1766	Q9HCU4	CELR2_HUMAN	W	1766	ENSP00000271332:R1766W	ENSP00000271332:R1766W	R	+	1	2	CELSR2	109608605	0.992000	0.36948	0.998000	0.56505	0.410000	0.31052	0.567000	0.23608	0.623000	0.30267	0.561000	0.74099	CGG		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	317	0	0	0	1	0	5	317					T	109807082	C	T	109807082	3	4	116	1	0	0	0	0	1	0	0	0	3231	759	27	1	5338	1	CELSR2	1	109807082	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	52549109	109807082	139443539	8	37351											
OVGP1	5016	broad.mit.edu	37	chr1	111957318	111957318	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacccatcctggggtgagtgCccacctcagaagtcaaattc	9	13	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:111957318C>T	ENST00000369732.3	-	11	1860	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	602					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)		GGGGTGAGTGCCCACCTCAGA	0.537																																						ENST00000369732.3																			0				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						c.(1804-1806)gGc>gAc		oviductal glycoprotein 1, 120kDa							81	79	80					1																	111957318		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957318C>T	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.1805G>A	1.37:g.111957318C>T	ENSP00000358747:p.Gly602Asp						p.G602D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		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)	11	1860	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	602					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1805G>A	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562922	0.13498	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03181	4.02	4.26	-3.69	0.04450	.	26.210200	0.00166	N	0.000000	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48364	-0.9042	10	0.31617	T	0.26	1.382	4.9573	0.14048	0.1688:0.484:0.0:0.3472	.	602;666	Q12889;Q59HH5	OVGP1_HUMAN;.	D	602;666;410	ENSP00000358747:G602D	ENSP00000358743:G666D	G	-	2	0	OVGP1	111758841	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.622000	0.05553	-0.622000	0.05626	0.585000	0.79938	GGC		0.537	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		5	364	0	0	0	1	0	5	364					T	111957318	C	T	111957318	3	4	116	1	0	0	0	0	1	0	0	0	11367	739	26	2	235	2	OVGP1	1	111957318	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	2150236	111957318	137293303	9	37352											
RPRD2	23248	broad.mit.edu	37	chr1	150444176	150444176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggctatttggtgccttcagcGtaagagggaatgaacctggg	15	7	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:150444176G>A	ENST00000369068.4	+	11	2756	c.2752G>A	c.(2752-2754)Gta>Ata	p.V918I	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.V892I|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	918	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCTTCAGCGTAAGAGGGAA	0.507																																						ENST00000401000.4																			0				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						c.(2674-2676)Gta>Ata		regulation of nuclear pre-mRNA domain containing 2							196	194	194					1																	150444176		2006	4174	6180	SO:0001583	missense	23248						protein binding	g.chr1:150444176G>A	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.2752G>A	1.37:g.150444176G>A	ENSP00000358064:p.Val918Ile					RPRD2_ENST00000369068.4_Missense_Mutation_p.V918I|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I	p.V892I			Q5VT52	RPRD2_HUMAN			10	2739	+			918			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2674G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418245	0.01136	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.41758	1.0;0.99;1.0	5.32	-1.59	0.08453	.	0.409852	0.25717	N	0.028778	T	0.03651	0.0104	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	0.35251	-0.9796	10	0.02654	T	1	-1.4748	3.2622	0.06853	0.3573:0.3938:0.15:0.0989	.	892;918;892	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	I	892;892;918	ENSP00000383785:V892I;ENSP00000445482:V892I;ENSP00000358064:V918I	ENSP00000358064:V918I	V	+	1	0	RPRD2	148710800	0.010000	0.17322	0.955000	0.39395	0.990000	0.78478	-0.056000	0.11787	-0.118000	0.11851	-0.312000	0.09012	GTA		0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		7	1032	0	0	0	1	0	7	1032					A	150444176	G	A	150444176	3	1	116	1	0	0	0	0	1	0	0	0	13667	1145	40	1	2794	1	RPRD2	1	150444176	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	38486858	150444176	98806445	10	37353											
BNIPL	149428	broad.mit.edu	37	chr1	151011320	151011320	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggccagcgccccatgcGcaagcgtctttctgccccag	12	16	2	0	rs367607450		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:151011320G>A	ENST00000368931.3	+	4	407	c.251G>A	c.(250-252)cGc>cAc	p.R84H	BNIPL_ENST00000295294.7_Missense_Mutation_p.R2H	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	84					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCCCCATGCGCAAGCGTCTT	0.587																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(4-6)cGc>cAc		BCL2/adenovirus E1B 19kD interacting protein like		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	64	63	63		5,251	5.2	1	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BNIPL	NM_001159642.1,NM_138278.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2/276,84/358	151011320	1,13005	2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151011320G>A	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.251G>A	1.37:g.151011320G>A	ENSP00000357927:p.Arg84His					BNIPL_ENST00000368931.3_Missense_Mutation_p.R84H	p.R2H	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	614	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		84					Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.5G>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374640	0.82573	0.0	1.16E-4	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	T;T;T	0.61742	0.81;0.69;0.08	5.15	5.15	0.70609	.	0.227351	0.39759	N	0.001277	T	0.73481	0.3592	M	0.87900	2.915	0.34662	D	0.72282	D	0.89917	1.0	D	0.73380	0.98	T	0.79332	-0.1847	10	0.87932	D	0	.	14.0116	0.64500	0.0:0.0:1.0:0.0	.	84	Q7Z465	BNIPL_HUMAN	H	84;82;2;2	ENSP00000357927:R84H;ENSP00000355333:R82H;ENSP00000295294:R2H	ENSP00000295294:R2H	R	+	2	0	BNIPL	149277944	0.996000	0.38824	0.991000	0.47740	0.892000	0.51952	2.378000	0.44309	2.677000	0.91161	0.563000	0.77884	CGC		0.587	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		5	424	0	0	0	1	0	5	424					A	151011320	G	A	151011320	3	1	116	1	0	0	0	0	1	0	0	0	1482	1087	38	1	265	1	BNIPL	1	151011320	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	567144	151011320	98239301	11	37354											
TCHH	7062	broad.mit.edu	37	chr1	152082606	152082606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagcagctgctcttcTtcctgctgcagctcgtcttt	7	15	5	0	rs201965717		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	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)			GCTGCTCTTCTTCCTGCTGCA	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3085-3087)gaA>gaG		trichohyalin							111	113	112					1																	152082606		1978	4144	6122	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082606T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3087A>G	1.37:g.152082606T>C							p.E1029E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1029			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3087A>G	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	775	0	0	0	1	0	6	775					C	152082606	T	C	152082606	2	2	116	1	0	0	0	0	0	0	0	1	15752	1606	56	4		4	TCHH	1	152082606	Silent	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	1071286	152082606	97168015	12	37355											
TOMM40L	84134	broad.mit.edu	37	chr1	161198845	161198845	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agccttcctcaatcactggcGcaacagattccattgtggct	8	13	2	1	rs368124911		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:161198845G>A	ENST00000367988.3	+	10	1156	c.887G>A	c.(886-888)cGc>cAc	p.R296H	NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|MIR5187_ENST00000583479.1_RNA	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	296	Required for mitochondrial targeting. {ECO:0000250}.				ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AATCACTGGCGCAACAGATTC	0.582																																						ENST00000367988.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(886-888)cGc>cAc		translocase of outer mitochondrial membrane 40 homolog (yeast)-like		G	HIS/ARG	0,4406		0,0,2203	140	122	128		887	5.2	1	1		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOMM40L	NM_032174.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	296/309	161198845	1,13005	2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198845G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"translocase of outer mitochondrial membrane 40 homolog-like (yeast)"				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.887G>A	1.37:g.161198845G>A	ENSP00000356967:p.Arg296His					TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H	p.R296H	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		10	1156	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		296			Required for mitochondrial targeting (By similarity).		B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.887G>A	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382008	0.61845	0.0	1.16E-4	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.42900	0.96;0.96;0.96	5.25	5.25	0.73442	.	0.301075	0.30920	N	0.008603	T	0.24470	0.0593	N	0.14661	0.345	0.32193	N	0.5787640000000001	D;D;D	0.54207	0.965;0.965;0.965	P;B;P	0.52881	0.712;0.285;0.712	T	0.12192	-1.0557	9	0.56958	D	0.05	-18.8218	9.9862	0.41843	0.0898:0.0:0.9102:0.0	.	262;178;296	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	H	296;262;198;296	ENSP00000356967:R296H;ENSP00000443233:R262H;ENSP00000356966:R296H	ENSP00000356966:R296H	R	+	2	0	TOMM40L	159465469	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.874000	0.48483	2.885000	0.99019	0.655000	0.94253	CGC		0.582	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		6	561	0	0	0	1	0	6	561					A	161198845	G	A	161198845	3	1	116	1	0	0	0	0	1	0	0	0	16411	1087	38	1	921	1	TOMM40L	1	161198845	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	9116239	161198845	88051776	13	37356											
PRG4	10216	broad.mit.edu	37	chr1	186276405	186276405	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaggagccttcacccaccacTcccaaggagcctgcacccac	7	19	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:186276405T>C	ENST00000445192.2	+	7	1599	c.1554T>C	c.(1552-1554)acT>acC	p.T518T	PRG4_ENST00000367485.4_Silent_p.T425T|PRG4_ENST00000367483.4_Silent_p.T477T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T475T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	518	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						CACCCACCACTCCCAAGGAGC	0.642																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1552-1554)acT>acC		proteoglycan 4							127	117	121					1																	186276405		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276405T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1554T>C	1.37:g.186276405T>C						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T477T|PRG4_ENST00000367486.3_Silent_p.T475T|PRG4_ENST00000367485.4_Silent_p.T425T	p.T518T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1599	+			518			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1554T>C	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	669	0	0	0	1	0	11	669					C	186276405	T	C	186276405	2	2	116	1	0	0	0	0	0	0	0	1	12528	1538	54	4		4	PRG4	1	186276405	Silent	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	25077560	186276405	62974216	14	37357											
PRG4	10216	broad.mit.edu	37	chr1	186276959	186276959	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaactacccctaaggAgactgctccaactaccccta	5	17	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:186276959A>G	ENST00000445192.2	+	7	2153	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G	PRG4_ENST00000367485.4_Missense_Mutation_p.E610G|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	703	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						ACCCCTAAGGAGACTGCTCCA	0.592																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2107-2109)gAg>gGg		proteoglycan 4							129	145	139					1																	186276959		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276959A>G	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.2108A>G	1.37:g.186276959A>G	ENSP00000399679:p.Glu703Gly					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G|PRG4_ENST00000367485.4_Missense_Mutation_p.E610G	p.E703G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2153	+			703			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2108A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.907	0.351387	0.11182	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.42;3.54;3.41;3.54	2.63	-4.85	0.03142	.	0.358279	0.20051	U	0.100294	T	0.04182	0.0116	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.27732	0.187;0.187;0.118;0.187	B;B;B;B	0.22386	0.039;0.039;0.017;0.039	T	0.36432	-0.9748	9	.	.	.	.	5.8386	0.18621	0.3724:0.4907:0.0:0.1368	.	569;610;703;662	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	660;569;662;610;703	ENSP00000356456:E660G;ENSP00000356453:E662G;ENSP00000356455:E610G;ENSP00000399679:E703G	.	E	+	2	0	PRG4	184543582	0.039000	0.19947	0.000000	0.03702	0.047000	0.14425	-0.123000	0.10611	-0.335000	0.08451	0.156000	0.16432	GAG		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	670	0	0	0	1	0	6	670					G	186276959	A	G	186276959	3	3	116	1	0	0	0	0	1	0	0	0	12528	304	11	4	2130	4	PRG4	1	186276959	Missense_Mutation	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	554	186276959	62973662	15	37358											
PPP1R12B	4660	broad.mit.edu	37	chr1	202394748	202394748	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcagcagatgttgcaggatgCccgccagtggctcaacagtg	14	11	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:202394748C>T	ENST00000608999.1	+	4	749	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	199					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)	p.A199V(1)		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)			TTGCAGGATGCCCGCCAGTGG	0.522																																						ENST00000406302.3																			1	Substitution - Missense(1)	p.A199V(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(595-597)gCc>gTc		protein phosphatase 1, regulatory subunit 12B							190	207	201					1																	202394748		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202394748C>T	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.596C>T	1.37:g.202394748C>T	ENSP00000476755:p.Ala199Val					PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V	p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	749	+			199					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.596C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069581	0.93950	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.094539	0.46442	D	0.000281	T	0.68109	0.2965	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.964;0.985;1.0;1.0	P;B;D;D	0.67103	0.478;0.403;0.944;0.949	T	0.61633	-0.7023	10	0.22706	T	0.39	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	199;199;199;199	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	V	199	ENSP00000384496:A199V;ENSP00000337897:A199V;ENSP00000417159:A199V;ENSP00000349206:A199V	ENSP00000337897:A199V	A	+	2	0	PPP1R12B	200661371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.586000	0.87340	0.460000	0.39030	GCC		0.522	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		7	1110	0	0	0	1	0	7	1110					T	202394748	C	T	202394748	3	4	116	1	0	0	0	0	1	0	0	0	12402	739	26	2	610	2	PPP1R12B	1	202394748	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	16117789	202394748	46855873	16	37359											
LAMB3	3914	broad.mit.edu	37	chr1	209790792	209790792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgctcgctggcaccttccGcaagctgctgggcctggact	12	16	0	0	rs368115484		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:209790792G>A	ENST00000356082.4	-	21	3325	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V|LAMB3_ENST00000391911.1_Missense_Mutation_p.A1064V	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1064	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCACCTTCCGCAAGCTGCTG	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0					ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	GRCh37	CP025158	LAMB3	X		c.(3190-3192)gCg>gTg		laminin, beta 3		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	75	73	74		3191,3191,3191	5.8	0.4	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1064/1173,1064/1173,1064/1173	209790792	1,13005	2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209790792G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3191C>T	1.37:g.209790792G>A	ENSP00000348384:p.Ala1064Val					LAMB3_ENST00000356082.4_Missense_Mutation_p.A1064V|LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V	p.A1064V	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	20	3580	-			1064			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3191C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652405	0.67472	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.78003	1.89;1.89;1.89;-1.14	5.77	5.77	0.91146	.	0.109031	0.64402	D	0.000010	T	0.70527	0.3234	L	0.34521	1.04	0.44323	D	0.997209	P	0.51351	0.944	B	0.41917	0.37	T	0.75639	-0.3248	10	0.87932	D	0	.	15.5396	0.76031	0.0:0.0:1.0:0.0	.	1064	Q13751	LAMB3_HUMAN	V	1064;1064;1064;133	ENSP00000375778:A1064V;ENSP00000348384:A1064V;ENSP00000355997:A1064V;ENSP00000398683:A133V	ENSP00000348384:A1064V	A	-	2	0	LAMB3	207857415	0.980000	0.34600	0.383000	0.26132	0.309000	0.27889	5.823000	0.69272	2.743000	0.94032	0.456000	0.33151	GCG		0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		5	511	0	0	0	1	0	5	511					A	209790792	G	A	209790792	3	1	116	1	0	0	0	0	1	0	0	0	8643	1087	38	1	339	1	LAMB3	1	209790792	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	7396044	209790792	39459829	17	37360											
NCKAP5	344148	broad.mit.edu	37	chr2	133541084	133541084	+	Frame_Shift_Del	DEL	G	G	-													acccctaagaaggaaggcttGgggggtgtggaggcgctatc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:133541084delG	ENST00000409261.1	-	14	3673	c.3300delC	c.(3298-3300)cccfs	p.P1100fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P1100fs|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1100	Ser-rich.									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						AGGAAGGCTTGGGGGGTGTGG	0.502																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3298-3300)ccfs		NCK-associated protein 5							239	253	248					2																	133541084		2028	4185	6213	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133541084delG	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.3300delC	2.37:g.133541084delG	ENSP00000387128:p.Pro1100fs					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P1100fs	p.P1100fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3673	-			1100			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.3300delC	CCDS46418.1																																																																																				0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	1686						7	1686	---	---	---	---	-	133541084	G	-	133541084	7	5	116	1	0	1	0	1	0	0	0	0	10265	1335	47	0	2457	0	NCKAP5	2	133541084	Frame_Shift_Del	DEL	G	TCGA-US-A77J-01A-11D-A32N-08		133541084	109658289	18	37361											
NEB	4703	broad.mit.edu	37	chr2	152586146	152586146	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	tacctctcccggcacctcttCgtaaaccacttcttctgtgt	5	16	4	0	rs199907781		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:152586146C>G	ENST00000172853.10	-	4	208	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	NEB_ENST00000397345.3_Missense_Mutation_p.E21Q|NEB_ENST00000427231.2_Missense_Mutation_p.E21Q|NEB_ENST00000603639.1_Missense_Mutation_p.E21Q|NEB_ENST00000604864.1_Missense_Mutation_p.E21Q|NEB_ENST00000409198.1_Missense_Mutation_p.E21Q			P20929	NEBU_HUMAN	nebulin	21					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)		GGCACCTCTTCGTAAACCACT	0.498																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(61-63)Gaa>Caa		nebulin							120	117	118					2																	152586146		1986	4158	6144	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152586146C>G	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.61G>C	2.37:g.152586146C>G	ENSP00000172853:p.Glu21Gln					NEB_ENST00000409198.1_Missense_Mutation_p.E21Q|NEB_ENST00000397345.3_Missense_Mutation_p.E21Q|NEB_ENST00000172853.10_Missense_Mutation_p.E21Q|NEB_ENST00000603639.1_Missense_Mutation_p.E21Q|NEB_ENST00000604864.1_Missense_Mutation_p.E21Q	p.E21Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	4	263	-			21					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.61G>C		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160849	0.38119	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.57	4.69	0.59074	.	0.189554	0.36815	N	0.002400	T	0.04907	0.0132	L	0.27053	0.805	0.80722	D	1	P	0.36199	0.543	B	0.28553	0.091	T	0.48210	-0.9055	10	0.18276	T	0.48	.	9.3738	0.38270	0.0:0.9057:0.0:0.0943	.	21	P20929	NEBU_HUMAN	Q	21	ENSP00000386259:E21Q;ENSP00000380505:E21Q;ENSP00000416578:E21Q;ENSP00000172853:E21Q	ENSP00000172853:E21Q	E	-	1	0	NEB	152294392	0.987000	0.35691	0.983000	0.44433	0.522000	0.34438	2.412000	0.44609	2.622000	0.88805	0.655000	0.94253	GAA		0.498	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	501	0	0	0	1	0	5	501					G	152586146	C	G	152586146	3	3	116	1	0	0	0	0	1	0	0	0	10344	893	31	5	26341	5	NEB	2	152586146	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	19045062	152586146	90613227	19	37362											
HIBCH	26275	broad.mit.edu	37	chr2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-													gttatgactcccgtgcaaccTtttttttccaatagcacctc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					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)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116	104	108					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	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.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			10	268						10	268	---	---	---	---	-	191161629	T	-	191161629	7	5	116	1	0	1	0	1	0	0	0	0	7130	1606	56	0	1079	0	HIBCH	2	191161629	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	38575483	191161629	52037744	20	37363											
CCDC13	152206	broad.mit.edu	37	chr3	42784422	42784422	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtttttccctttccaggctgCggatcctcagcaggtttttc	9	12	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:42784422C>T	ENST00000310232.6	-	8	1036	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	318										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTCCAGGCTGCGGATCCTCAG	0.577																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(952-954)cGc>cAc		coiled-coil domain containing 13							161	150	154					3																	42784422		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42784422C>T	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.953G>A	3.37:g.42784422C>T	ENSP00000309836:p.Arg318His					CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	p.R318H	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			8	1036	-			318						Missense_Mutation	SNP	ENST00000310232.6	37	c.953G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602578	0.46423	.	.	ENSG00000244607	ENST00000310232	T	0.27402	1.67	4.69	2.91	0.33838	.	0.060556	0.64402	D	0.000003	T	0.26846	0.0657	L	0.55481	1.735	0.42623	D	0.993358	B	0.25169	0.119	B	0.23574	0.047	T	0.06092	-1.0846	10	0.44086	T	0.13	.	8.5036	0.33173	0.0:0.745:0.0:0.255	.	318	Q8IYE1	CCD13_HUMAN	H	318	ENSP00000309836:R318H	ENSP00000309836:R318H	R	-	2	0	CCDC13	42759426	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	1.907000	0.39897	0.602000	0.29896	-0.216000	0.12614	CGC		0.577	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		6	884	0	0	0	1	0	6	884					T	42784422	C	T	42784422	3	4	116	1	0	0	0	0	1	0	0	0	2772	768	27	1	1230	1	CCDC13	3	42784422	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		42784422	155238008	21	37364											
SETD2	29072	broad.mit.edu	37	chr3	47103755	47103756	+	Frame_Shift_Del	DEL	TC	TC	-													tttgagtttgcttgtctgggTctctctctcttgacctatta							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:47103755_47103756delTC	ENST00000409792.3	-	14	6232_6233	c.6190_6191delGA	c.(6190-6192)gacfs	p.D2064fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2064					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)		CTTGTCTGGGTCTCTCTCTCTT	0.485			"N, F, S, Mis"		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"N, F, S, Mis"	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6190-6192)cfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103755_47103756delTC	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.6190_6191delGA	3.37:g.47103763_47103764delTC	ENSP00000386759:p.Asp2064fs					SETD2_ENST00000492397.1_5'UTR	p.D2064fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6232_6233	-		Acute lymphoblastic leukemia(5;0.0169)	2064					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.6190_6191delGA	CCDS2749.2																																																																																				0.485	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		8	1528						8	1528	---	---	---	---	-	47103756	TC	-	47103755	7	5	116	1	0	1	0	1	0	0	0	0	14181	1667	58	0	1535	0	SETD2	3	47103755	Frame_Shift_Del	DEL	TC	TCGA-US-A77J-01A-11D-A32N-08	4319333	47103755	150918675	22	37365											
TREX1	11277	broad.mit.edu	37	chr3	48508192	48508192	+	Frame_Shift_Del	DEL	C	C	-													cacagatgtgccctggagagCccccccacctctcaggggcc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:48508192delC	ENST00000422277.2	+	1	964	c.303delC	c.(301-303)agcfs	p.S101fs	TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Frame_Shift_Del_p.S36fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000296443.9_Frame_Shift_Del_p.S46fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.S46fs|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_3'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	101					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)		CCCTGGAGAGCCCCCCCACCT	0.647																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(136-138)agfs		three prime repair exonuclease 1							78	82	81					3																	48508192		2203	4300	6503	SO:0001589	frameshift_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508192delC	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.303delC	3.37:g.48508192delC	ENSP00000390478:p.Ser101fs					TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.S36fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.S46fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000422277.2_Frame_Shift_Del_p.S101fs|TREX1_ENST00000456089.1_Intron	p.S46fs			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1025	+			101					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Frame_Shift_Del	DEL	ENST00000422277.2	37	c.138delC	CCDS43086.1																																																																																				0.647	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		8	935						8	935	---	---	---	---	-	48508192	C	-	48508192	7	5	116	1	0	1	0	1	0	0	0	0	16529	738	26	0	305	0	TREX1	3	48508192	Frame_Shift_Del	DEL	C	TCGA-US-A77J-01A-11D-A32N-08	1404437	48508192	149514238	23	37366											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133348	64133348	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcatgccagtgttggCcatcataggtcatttgacct	11	10	2	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:64133348C>T	ENST00000295902.6	-	7	1403	c.818G>A	c.(817-819)gGc>gAc	p.G273D	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G329D	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	273	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				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)		CCAGTGTTGGCCATCATAGGT	0.522																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(817-819)gGc>gAc		prickle homolog 2 (Drosophila)							68	69	68					3																	64133348		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133348C>T	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.818G>A	3.37:g.64133348C>T	ENSP00000295902:p.Gly273Asp					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G329D	p.G273D	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1403	-		Lung NSC(201;0.136)	273			LIM zinc-binding 3.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.818G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147467	0.57151	.	.	ENSG00000163637	ENST00000295902	D	0.87256	-2.23	6.08	6.08	0.98989	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91523	0.7323	L	0.56396	1.775	0.80722	D	1	P	0.40638	0.725	P	0.54706	0.759	D	0.88672	0.3196	10	0.36615	T	0.2	-50.4567	20.6634	0.99662	0.0:1.0:0.0:0.0	.	273	Q7Z3G6	PRIC2_HUMAN	D	273	ENSP00000295902:G273D	ENSP00000295902:G273D	G	-	2	0	PRICKLE2	64108388	1.000000	0.71417	0.992000	0.48379	0.008000	0.06430	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GGC		0.522	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		5	487	0	0	0	1	0	5	487					T	64133348	C	T	64133348	3	4	116	1	0	0	0	0	1	0	0	0	12534	739	26	2	1724	2	PRICKLE2	3	64133348	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	15625156	64133348	133889082	24	37367											
PRDM5	11107	broad.mit.edu	37	chr4	121843684	121843684	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacccacctttcgcactctgCgggccgtgtagagccccatg	10	17	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:121843684C>T	ENST00000264808.3	-	1	320	c.80G>A	c.(79-81)cGc>cAc	p.R27H	PRDM5_ENST00000515109.1_Missense_Mutation_p.R27H|PRDM5_ENST00000394435.2_Missense_Mutation_p.R27H|PRDM5_ENST00000428209.2_Missense_Mutation_p.R27H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	27	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCGCACTCTGCGGGCCGTGTA	0.746																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(79-81)cGc>cAc		PR domain containing 5							19	19	19					4																	121843684		2201	4296	6497	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121843684C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.80G>A	4.37:g.121843684C>T	ENSP00000264808:p.Arg27His					PRDM5_ENST00000428209.2_Missense_Mutation_p.R27H|PRDM5_ENST00000394435.2_Missense_Mutation_p.R27H|PRDM5_ENST00000515109.1_Missense_Mutation_p.R27H	p.R27H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			1	320	-			27			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.80G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086245	0.76642	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	3.62	1.83	0.25207	SET domain (2);	0.000000	0.85682	U	0.000000	D	0.83101	0.5181	M	0.62266	1.93	0.47341	D	0.999395	B;D;D;B	0.89917	0.004;0.988;1.0;0.002	B;P;D;B	0.83275	0.001;0.656;0.996;0.001	T	0.78710	-0.2098	10	0.39692	T	0.17	-0.2603	8.8766	0.35350	0.0:0.8071:0.0:0.1929	.	27;27;27;27	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	H	27	ENSP00000264808:R27H;ENSP00000422309:R27H;ENSP00000404832:R27H;ENSP00000377955:R27H	ENSP00000264808:R27H	R	-	2	0	PRDM5	122063134	1.000000	0.71417	0.488000	0.27440	0.780000	0.44128	4.646000	0.61411	0.065000	0.16485	0.298000	0.19748	CGC		0.746	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			4	132	0	0	0	1	0	4	132					T	121843684	C	T	121843684	3	4	116	1	0	0	0	0	1	0	0	0	12507	768	27	1	1876	1	PRDM5	4	121843684	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		121843684	69310592	25	37368											
MMAA	166785	broad.mit.edu	37	chr4	146563588	146563588	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatgcttactgagagaggGcacaaattatctgtgctagc	10	7	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:146563588G>A	ENST00000281317.5	+	3	1723	c.513G>A	c.(511-513)ggG>ggA	p.G171G	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	171					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAGAGAGGGCACAAATTAT	0.428																																						ENST00000281317.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(511-513)ggG>ggA		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						206	206	206					4																	146563588		2203	4300	6503	SO:0001819	synonymous_variant	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146563588G>A	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"methylmalonic aciduria (cobalamin deficiency) type A"			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.513G>A	4.37:g.146563588G>A						MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	p.G171G	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			3	1723	+	all_hematologic(180;0.151)		171					B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	c.513G>A	CCDS3766.1																																																																																				0.428	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			9	976	0	0	0	1	0	9	976					A	146563588	G	A	146563588	2	1	116	1	0	0	0	0	0	0	0	1	9680	1190	42	2		2	MMAA	4	146563588	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	24719904	146563588	44590688	26	37369											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		9	243						9	243	---	---	---	---	-	1879671	CCT	-	1879669	7	5	116	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-US-A77J-01A-11D-A32N-08		1879669	179035591	27	37370											
ZFR	51663	broad.mit.edu	37	chr5	32355893	32355893	+	Frame_Shift_Del	DEL	T	T	-													ttatcataatcttttttgtcTtttttcccctcagcttcaaa							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:32355893delT	ENST00000265069.8	-	20	3300	c.3198delA	c.(3196-3198)aaafs	p.K1066fs	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1066	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTTTTTGTCTTTTTTCCCCT	0.338																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(3196-3198)aafs		zinc finger RNA binding protein							135	131	132					5																	32355893		2203	4300	6503	SO:0001589	frameshift_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32355893delT	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.3198delA	5.37:g.32355893delT	ENSP00000265069:p.Lys1066fs					ZFR_ENST00000510369.1_5'UTR	p.K1066fs	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	20	3300	-			1066					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	c.3198delA	CCDS34139.1																																																																																				0.338	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	559						7	559	---	---	---	---	-	32355893	T	-	32355893	7	5	116	1	0	1	0	1	0	0	0	0	17712	1606	56	0	30	0	ZFR	5	32355893	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	30476224	32355893	148559367	28	37371											
PCDHA11	56138	broad.mit.edu	37	chr5	140250375	140250375	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acgagaacgacaacgcgccgGcactgctggcgactcaggct	13	14	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:140250375G>A	ENST00000398640.2	+	1	1687	c.1687G>A	c.(1687-1689)Gca>Aca	p.A563T	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGCTGGC	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1687-1689)Gca>Aca									85	95	92					5																	140250375		2203	4299	6502	SO:0001583	missense	0							g.chr5:140250375G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1687G>A	5.37:g.140250375G>A	ENSP00000381636:p.Ala563Thr					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.A563T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1687	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1687G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.875088	0.02550	.	.	ENSG00000249158	ENST00000398640	T	0.37235	1.21	5.35	0.2	0.15181	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.14527	0.0351	N	0.05534	-0.03	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.003;0.005	T	0.29088	-1.0023	9	0.17369	T	0.5	.	2.9887	0.05977	0.2107:0.1129:0.546:0.1303	.	563;563	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	563	ENSP00000381636:A563T	ENSP00000381636:A563T	A	+	1	0	PCDHA11	140230559	0.000000	0.05858	0.005000	0.12908	0.061000	0.15899	-2.040000	0.01416	-0.313000	0.08728	-0.347000	0.07816	GCA		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		6	909	0	0	0	1	0	6	909					A	140250375	G	A	140250375	3	1	116	1	0	0	0	0	1	0	0	0	11563	1203	42	2	1689	2	PCDHA11	5	140250375	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	107894482	140250375	40664885	29	37372											
UIMC1	51720	broad.mit.edu	37	chr5	176370364	176370364	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccatcagaccattgcaGtacatggcatgtcgttcaat	7	12	2	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:176370364G>A	ENST00000377227.4	-	10	1701	c.1569C>T	c.(1567-1569)taC>taT	p.Y523Y	UIMC1_ENST00000377219.2_Silent_p.Y523Y|UIMC1_ENST00000506128.1_Silent_p.Y357Y|UIMC1_ENST00000511320.1_Silent_p.Y523Y|UIMC1_ENST00000503273.1_5'UTR			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	523	Zinc-finger-like region.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCATTGCAGTACATGGCAT	0.433																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1567-1569)taC>taT		ubiquitin interaction motif containing 1							260	246	251					5																	176370364		2203	4300	6503	SO:0001819	synonymous_variant	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176370364G>A	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"receptor associated protein 80"	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1569C>T	5.37:g.176370364G>A						UIMC1_ENST00000511320.1_Silent_p.Y523Y|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Silent_p.Y523Y|UIMC1_ENST00000506128.1_Silent_p.Y357Y	p.Y523Y	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1735	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	523			Zinc-finger-like region.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	c.1569C>T	CCDS4408.1																																																																																				0.433	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		6	955	0	0	0	1	0	6	955					A	176370364	G	A	176370364	2	1	116	1	0	0	0	0	0	0	0	1	17025	1024	36	2		2	UIMC1	5	176370364	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	36119989	176370364	4544896	30	37373											
OR2V2	285659	broad.mit.edu	37	chr5	180582648	180582648	+	Frame_Shift_Del	DEL	A	A	-													tgcactctgctcaggcctggAaaaaggccctggccacctgc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:180582648delA	ENST00000328275.1	+	1	706	c.706delA	c.(706-708)aaafs	p.K237fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	237						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)			TCAGGCCTGGAAAAAGGCCCT	0.567																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(706-708)aafs		olfactory receptor, family 2, subfamily V, member 2							143	138	140					5																	180582648		2203	4300	6503	SO:0001589	frameshift_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582648delA	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.706delA	5.37:g.180582648delA	ENSP00000332185:p.Lys237fs						p.K237fs	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	706	+	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)	237					Q6IFL6|Q8NGV1	Frame_Shift_Del	DEL	ENST00000328275.1	37	c.706delA	CCDS4461.1																																																																																				0.567	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			7	611						7	611	---	---	---	---	-	180582648	A	-	180582648	7	5	116	1	0	1	0	1	0	0	0	0	11073	247	9	0	708	0	OR2V2	5	180582648	Frame_Shift_Del	DEL	A	TCGA-US-A77J-01A-11D-A32N-08	4212284	180582648	332612	31	37374											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	899						7	899	---	---	---	---	A	31939830	-	A	31939829	7	5	116	1	0	1	1	0	0	0	0	0	15344	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08		31939829	139175238	32	37375											
MAP3K7	6885	broad.mit.edu	37	chr6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-													tcatctcaccggccgaagacGaggaggaggaggaggcggca							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(31-36)tcg>tc		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296568_91296570delGAG	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.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del	p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		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)	1	194_196	-		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)	13			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		8	228						8	228	---	---	---	---	-	91296570	GAG	-	91296568	7	5	116	1	0	1	0	1	0	0	0	0	9296	1059	37	0	1853	0	MAP3K7	6	91296568	In_Frame_Del	DEL	GAG	TCGA-US-A77J-01A-11D-A32N-08	59356739	91296568	79818499	33	37376											
KIAA0408	9729	broad.mit.edu	37	chr6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-													ttccttgcttcacttcctgtCccccccacacagctgtcttt							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										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)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236	227	230					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	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.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	1421						7	1421	---	---	---	---	-	127767596	C	-	127767596	7	5	116	1	0	1	0	1	0	0	0	0	8204	855	30	0	224	0	KIAA0408	6	127767596	Frame_Shift_Del	DEL	C	TCGA-US-A77J-01A-11D-A32N-08	36471028	127767596	43347471	34	37377											
GRM1	2911	broad.mit.edu	37	chr6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-													agggcttgccccctcctctcCagcagcagcagcaaccccct							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.66	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	935						7	935	---	---	---	---	-	146755401	CAG	-	146755399	7	5	116	1	0	1	0	1	0	0	0	0	6826	595	21	0	3147	0	GRM1	6	146755399	In_Frame_Del	DEL	CAG	TCGA-US-A77J-01A-11D-A32N-08	18987803	146755399	24359668	35	37378											
SASH1	23328	broad.mit.edu	37	chr6	148792591	148792591	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaataagtatttctggCagaacttccgaaagaaccag	8	7	1	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:148792591C>A	ENST00000367467.3	+	6	941	c.466C>A	c.(466-468)Cag>Aag	p.Q156K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	156					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)		GTATTTCTGGCAGAACTTCCG	0.338																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(466-468)Cag>Aag		SAM and SH3 domain containing 1																																				SO:0001583	missense	23328						protein binding	g.chr6:148792591C>A	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.466C>A	6.37:g.148792591C>A	ENSP00000356437:p.Gln156Lys						p.Q156K	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	6	941	+		Ovarian(120;0.0169)	156					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.466C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251230	0.95305	.	.	ENSG00000111961	ENST00000367467	T	0.12879	2.64	5.92	5.92	0.95590	.	0.107744	0.64402	D	0.000004	T	0.20129	0.0484	L	0.27053	0.805	0.58432	D	0.999997	D	0.69078	0.997	D	0.73380	0.98	T	0.02632	-1.1131	10	0.87932	D	0	-30.963	19.9157	0.97061	0.0:1.0:0.0:0.0	.	156	O94885	SASH1_HUMAN	K	156	ENSP00000356437:Q156K	ENSP00000356437:Q156K	Q	+	1	0	SASH1	148834284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.315000	0.78998	2.809000	0.96659	0.655000	0.94253	CAG		0.338	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		5	132	1	0	1.024e-07	1	1.08353e-07	5	132					A	148792591	C	A	148792591	3	1	116	1	0	0	0	0	1	0	0	0	13898	711	25	3	488	3	SASH1	6	148792591	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	2037192	148792591	22322476	36	37379											
SAMD9L	219285	broad.mit.edu	37	chr7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-													tgcaagacctctcggagttgTttttttagcgtggtaagtgg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:92761061delT	ENST00000318238.4	-	5	5440	c.4224delA	c.(4222-4224)aaafs	p.K1408fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1408					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)			CTCGGAGTTGTTTTTTTAGCG	0.408																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4222-4224)aafs		sterile alpha motif domain containing 9-like				3,4257		1,1,2128	157	157	157			3.3	1	7		156	0,8254		0,0,4127	no	frameshift	SAMD9L	NM_152703.2		1,1,6255	A1A1,A1R,RR		0.0,0.0704,0.024			92761061	3,12511	2203	4300	6503	SO:0001589	frameshift_variant	219285							g.chr7:92761061delT	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.4224delA	7.37:g.92761061delT	ENSP00000326247:p.Lys1408fs					SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs	p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5440	-	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)		1408					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	ENST00000318238.4	37	c.4224delA	CCDS34681.1																																																																																				0.408	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		8	1166						8	1166	---	---	---	---	-	92761061	T	-	92761061	7	5	116	1	0	1	0	1	0	0	0	0	13877	1722	60	0	534	0	SAMD9L	7	92761061	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08		92761061	66377602	37	37380											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3	rs201349757		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	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.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		9	1240	0	0	0	1	0	9	1240					G	99913460	A	G	99913460	2	3	116	1	0	0	0	0	0	0	0	1	15082	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	7152399	99913460	59225203	38	37381											
TFR2	7036	broad.mit.edu	37	chr7	100230653	100230653	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaagctgatcacccccacgcGcaccagcagcaggcggccca	11	18	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:100230653G>A	ENST00000462107.1	-	7	1107	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000431692.1_Missense_Mutation_p.R274C			Q9UP52	TFR2_HUMAN	transferrin receptor 2	274					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	ACCCCCACGCGCACCAGCAGC	0.677																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(820-822)Cgc>Tgc		transferrin receptor 2							68	78	74					7																	100230653		2200	4295	6495	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100230653G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.820C>T	7.37:g.100230653G>A	ENSP00000420525:p.Arg274Cys					TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000431692.1_Missense_Mutation_p.R274C	p.R274C			Q9UP52	TFR2_HUMAN			7	1107	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		274					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.820C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473866	0.84640	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.56275	0.47;0.47;0.47	6.04	6.04	0.98038	Protease-associated domain, PA (1);	0.068447	0.64402	D	0.000012	T	0.79862	0.4519	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	D	0.84734	0.0747	10	0.87932	D	0	-22.3494	18.073	0.89417	0.0:0.0:1.0:0.0	.	274	Q9UP52	TFR2_HUMAN	C	274	ENSP00000223051:R274C;ENSP00000413905:R274C;ENSP00000420525:R274C	ENSP00000223051:R274C	R	-	1	0	TFR2	100068589	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.562000	0.60816	2.873000	0.98535	0.561000	0.74099	CGC		0.677	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		10	887	0	0	0	1	0	10	887					A	100230653	G	A	100230653	3	1	116	1	0	0	0	0	1	0	0	0	15863	1087	38	1	1637	1	TFR2	7	100230653	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	317193	100230653	58908010	39	37382											
ZAN	7455	broad.mit.edu	37	chr7	100350550	100350550	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatctccacagaaaaacTcaccatccccacagaaaaac	2	16	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L941P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							260	315	297					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350550T>C						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	642	0	0	0	1	0	6	642					C	100350550	T	C	100350550	1	2	116	0	1	0	0	0	0	0	0	0	17567	1551	54	4		4	ZAN	7	100350550	RNA	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	119897	100350550	58788113	40	37383											
KIAA1549	57670	broad.mit.edu	37	chr7	138524998	138524998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attctgctggcaatccccacCtgtgtcaggtgctggatctg	11	12	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:138524998C>T	ENST00000422774.1	-	19	5526	c.5478G>A	c.(5476-5478)caG>caA	p.Q1826Q	KIAA1549_ENST00000440172.1_Silent_p.Q1826Q|KIAA1549_ENST00000242365.4_Silent_p.Q1776Q			Q9HCM3	K1549_HUMAN	KIAA1549	1826						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAATCCCCACCTGTGTCAGGT	0.597			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5476-5478)caG>caA		KIAA1549							25	26	26					7																	138524998		1997	4169	6166	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138524998C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5478G>A	7.37:g.138524998C>T						KIAA1549_ENST00000242365.4_Silent_p.Q1776Q|KIAA1549_ENST00000422774.1_Silent_p.Q1826Q	p.Q1826Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			19	5526	-			1826					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.5478G>A	CCDS56513.1																																																																																				0.597	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	54	0	0	0	1	0	4	54					T	138524998	C	T	138524998	2	4	116	1	0	0	0	0	0	0	0	1	8274	680	24	2		2	KIAA1549	7	138524998	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	38174448	138524998	20613665	41	37384											
MLL3	58508	broad.mit.edu	37	chr7	151921149	151921149	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atcttcttctctatagtttcGatagcagactggacaggaag	9	8	3	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:151921149G>A	ENST00000262189.6	-	20	3492	c.3274C>T	c.(3274-3276)Cga>Tga	p.R1092*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R1092*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1092					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)										CTATAGTTTCGATAGCAGACT	0.388																																						ENST00000355193.2																			0											c.(3274-3276)Cga>Tga		lysine (K)-specific methyltransferase 2C							74	66	68					7																	151921149		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151921149G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3274C>T	7.37:g.151921149G>A	ENSP00000262189:p.Arg1092*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1092*	p.R1092*							20	3492	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3274C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	41	8.824098	0.98968	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	5.39	0.77823	.	0.000000	0.41396	D	0.000888	.	.	.	.	.	.	0.46564	D	0.999102	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4512	0.61172	0.075:0.0:0.925:0.0	rs4024370	.	.	.	X	1092	.	ENSP00000262189:R1092X	R	-	1	2	MLL3	151552082	0.985000	0.35326	0.768000	0.31515	0.990000	0.78478	4.399000	0.59703	2.528000	0.85240	0.650000	0.86243	CGA		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	325	0	0	0	1	0	7	325					A	151921149	G	A	151921149	4	1	116	1	0	0	0	0	0	1	0	0	9663	1066	37	1	11621	1	MLL3	7	151921149	Nonsense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	13396151	151921149	7217514	42	37385											
WDR60	55112	broad.mit.edu	37	chr7	158672580	158672580	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agaaagacataaagaaaagcGacacaaagaaggttttcatt	8	5	1	4			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:158672580G>A	ENST00000407559.3	+	5	937	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	260					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)		AAAGAAAAGCGACACAAAGAA	0.398																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(778-780)cGa>cAa		WD repeat domain 60							76	78	77					7																	158672580		1867	4093	5960	SO:0001583	missense	55112							g.chr7:158672580G>A		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.779G>A	7.37:g.158672580G>A	ENSP00000384290:p.Arg260Gln						p.R260Q	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	5	937	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	260					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.779G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413667	0.62511	.	.	ENSG00000126870	ENST00000407559	T	0.35973	1.28	4.73	3.83	0.44106	.	0.071972	0.53938	D	0.000043	T	0.18130	0.0435	N	0.20986	0.625	0.09310	N	1	P	0.35155	0.487	B	0.18871	0.023	T	0.12863	-1.0531	10	0.37606	T	0.19	-9.5898	8.1695	0.31247	0.1082:0.0:0.8918:0.0	.	260	Q8WVS4	WDR60_HUMAN	Q	260	ENSP00000384290:R260Q	ENSP00000384290:R260Q	R	+	2	0	WDR60	158365341	0.021000	0.18746	0.008000	0.14137	0.002000	0.02628	2.064000	0.41432	2.339000	0.79563	0.655000	0.94253	CGA		0.398	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		5	225	0	0	0	1	0	5	225					A	158672580	G	A	158672580	3	1	116	1	0	0	0	0	1	0	0	0	17365	1058	37	1	797	1	WDR60	7	158672580	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	6751431	158672580	466083	43	37386											
AMAC1L2	83650	broad.mit.edu	37	chr8	11189433	11189433	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcacatgtgtgggctatgCggtcaccaaggcccaccctg	11	14	2	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:11189433C>T	ENST00000382435.4	+	1	1037	c.818C>T	c.(817-819)gCg>gTg	p.A273V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	273	EamA 2.					integral component of membrane (GO:0016021)											GTGGGCTATGCGGTCACCAAG	0.592																																						ENST00000382435.4																			0											c.(817-819)gCg>gTg		solute carrier family 35, member G5							111	110	110					8																	11189433		2203	4298	6501	SO:0001583	missense	83650					integral to membrane		g.chr8:11189433C>T	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.818C>T	8.37:g.11189433C>T	ENSP00000371872:p.Ala273Val						p.A273V	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	1037	+			273			DUF6 2.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.818C>T	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372443	0.11409	.	.	ENSG00000177710	ENST00000382435	T	0.77098	-1.07	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.59088	0.2168	L	0.32530	0.975	0.40203	D	0.977531	B	0.14012	0.009	B	0.14578	0.011	T	0.06625	-1.0816	9	0.54805	T	0.06	-6.6496	4.5334	0.12017	0.0:0.668:0.0:0.332	.	273	Q96KT7	S35G5_HUMAN	V	273	ENSP00000371872:A273V	ENSP00000371872:A273V	A	+	2	0	SLC35G5	11226843	0.924000	0.31332	0.074000	0.20217	0.074000	0.17049	1.709000	0.37909	-1.791000	0.01261	-1.780000	0.00649	GCG		0.592	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		6	799	0	0	0	1	0	6	799					T	11189433	C	T	11189433	3	4	116	1	0	0	0	0	1	0	0	0	560	768	27	1	820	1	AMAC1L2	8	11189433	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		11189433	135174589	44	37387											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	114	0	0	0	1	0	11	114					G	41790659	T	G	41790659	2	3	116	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	30601226	41790659	104573363	45	37388											
TMEM71	137835	broad.mit.edu	37	chr8	133764201	133764201	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggggatctatggagccGcattcaaaagaatggtaacc	12	8	3	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:133764201G>A	ENST00000356838.3	-	4	286	c.144C>T	c.(142-144)tgC>tgT	p.C48C	TMEM71_ENST00000377901.4_Silent_p.C48C|TMEM71_ENST00000523829.1_Silent_p.C48C|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	48						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTATGGAGCCGCATTCAAAAG	0.453																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(142-144)tgC>tgT		transmembrane protein 71							78	78	78					8																	133764201		2203	4300	6503	SO:0001819	synonymous_variant	137835					integral to membrane		g.chr8:133764201G>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.144C>T	8.37:g.133764201G>A						TMEM71_ENST00000523829.1_Silent_p.C48C|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C48C	p.C48C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	286	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		48					Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000356838.3	37	c.144C>T	CCDS6366.1																																																																																				0.453	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		5	306	0	0	0	1	0	5	306					A	133764201	G	A	133764201	2	1	116	1	0	0	0	0	0	0	0	1	16252	1079	38	1		1	TMEM71	8	133764201	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	91973542	133764201	12599821	46	37389											
CYP11B2	1585	broad.mit.edu	37	chr8	143993951	143993953	+	In_Frame_Del	DEL	GCA	GCA	-													cccaggcctgcttacgtggtGcagcagcagcagcatctctg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:143993951_143993953delGCA	ENST00000323110.2	-	8	1393_1395	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CTTACGTGGTGCAGCAGCAGCAG	0.685									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1390-1395)cac>c		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)																																			SO:0001651	inframe_deletion	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143993951_143993953delGCA	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1391_1393delTGC	8.37:g.143993960_143993962delGCA	ENSP00000325822:p.Leu464del						p.LH464del	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			8	1393_1395	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		464					B0ZBE4|Q16726	In_Frame_Del	DEL	ENST00000323110.2	37	c.1391_1393delTGC	CCDS6393.1																																																																																				0.685	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			7	401						7	401	---	---	---	---	-	143993953	GCA	-	143993951	7	5	116	1	0	1	0	1	0	0	0	0	4157	1319	46	0	126	0	CYP11B2	8	143993951	In_Frame_Del	DEL	GCA	TCGA-US-A77J-01A-11D-A32N-08	10229750	143993951	2370071	47	37390											
KIAA0020	9933	broad.mit.edu	37	chr9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaactgctttacacccTttttcccaagttttgtgata	5	10	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)aAg>aGg		KIAA0020							259	237	244					9																	2837296		1837	4098	5935	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296T>C	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188A>G	9.37:g.2837296T>C	ENSP00000380982:p.Lys63Arg						p.K63R	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	3	394	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.188A>G	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927712	0.18056	.	.	ENSG00000080608	ENST00000397885	T	0.12672	2.66	4.55	3.32	0.38043	.	0.404891	0.24027	N	0.042233	T	0.07369	0.0186	N	0.19112	0.55	0.22629	N	0.998913	B	0.10296	0.003	B	0.08055	0.003	T	0.24799	-1.0150	10	0.26408	T	0.33	-19.7444	5.606	0.17379	0.0:0.0997:0.2858:0.6145	.	63	Q15397	K0020_HUMAN	R	63	ENSP00000380982:K63R	ENSP00000380982:K63R	K	-	2	0	KIAA0020	2827296	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	2.041000	0.60428	0.528000	0.53228	AAG		0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		5	851	0	0	0	1	0	5	851					C	2837296	T	C	2837296	3	2	116	1	0	0	0	0	1	0	0	0	8182	1609	56	4	1822	4	KIAA0020	9	2837296	Missense_Mutation	SNP	T	TCGA-US-A77J-01A-11D-A32N-08		2837296	138376135	48	37391											
MLANA	2315	broad.mit.edu	37	chr9	5897571	5897571	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccagggccgctgggatcgGcatcctgacagtgatcctgg	16	12	0	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:5897571G>A	ENST00000381477.3	+	3	252	c.92G>A	c.(91-93)gGc>gAc	p.G31D	KIAA2026_ENST00000443149.2_5'Flank|MLANA_ENST00000381476.1_Missense_Mutation_p.G31D|MLANA_ENST00000490518.1_3'UTR|MLANA_ENST00000381471.1_Missense_Mutation_p.G31D	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	31						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		GCTGGGATCGGCATCCTGACA	0.448																																						ENST00000381477.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8						c.(91-93)gGc>gAc		melan-A							161	148	153					9																	5897571		2203	4300	6503	SO:0001583	missense	2315					endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	g.chr9:5897571G>A		CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.92G>A	9.37:g.5897571G>A	ENSP00000370886:p.Gly31Asp					MLANA_ENST00000381476.1_Missense_Mutation_p.G31D|MLANA_ENST00000381471.1_Missense_Mutation_p.G31D|MLANA_ENST00000490518.1_3'UTR	p.G31D	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)	3	252	+		Acute lymphoblastic leukemia(23;0.158)	31					Q6ICU4	Missense_Mutation	SNP	ENST00000381477.3	37	c.92G>A	CCDS6466.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782277	0.49891	.	.	ENSG00000120215	ENST00000381477;ENST00000381476;ENST00000381471	.	.	.	6.03	6.03	0.97812	.	0.187468	0.46442	D	0.000285	T	0.78610	0.4310	M	0.70275	2.135	0.51233	D	0.99991	D	0.89917	1.0	D	0.97110	1.0	T	0.79184	-0.1908	9	0.66056	D	0.02	-13.3243	16.0667	0.80887	0.0:0.0:1.0:0.0	.	31	Q16655	MAR1_HUMAN	D	31	.	ENSP00000370880:G31D	G	+	2	0	MLANA	5887571	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.836000	0.62789	2.854000	0.98071	0.655000	0.94253	GGC		0.448	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1			5	531	0	0	0	1	0	5	531					A	5897571	G	A	5897571	3	1	116	1	0	0	0	0	1	0	0	0	9652	1203	42	2	98	2	MLANA	9	5897571	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	3060275	5897571	135315860	49	37392											
GRHPR	9380	broad.mit.edu	37	chr9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G													gagctagagcgaggtgtggcINSgggggcccacggcctgctct					rs369721488|rs150805048		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					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)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1	0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	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.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		8	448						8	448	---	---	---	---	G	37424908	-	G	37424907	7	5	116	1	0	1	1	0	0	0	0	0	6796	768	27	0	155	0	GRHPR	9	37424907	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08	31527336	37424907	103788524	50	37393											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	1123						7	1123	---	---	---	---	-	94172779	T	-	94172779	7	5	116	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	56747872	94172779	47040652	51	37394											
FBXW2	26190	broad.mit.edu	37	chr9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actaatcaggctctctgtccGcaagtccatgatgtacaggt	9	11	2	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	393					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						CTCTCTGTCCGCAAGTCCATG	0.517																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(1177-1179)Cgg>Tgg		F-box and WD repeat domain containing 2							107	105	105					9																	123527025		1948	4154	6102	SO:0001583	missense	0				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123527025G>A	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.1177C>T	9.37:g.123527025G>A	ENSP00000476369:p.Arg393Trp					FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	p.R393W	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			8	1364	-			393					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.1177C>T	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972103	0.34754	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.19250	2.16;2.16	4.95	0.397	0.16314	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.47716	1.5	0.58432	D	0.999996	B;D;D	0.89917	0.107;1.0;0.999	B;D;D	0.75020	0.009;0.985;0.985	T	0.09443	-1.0674	10	0.72032	D	0.01	-9.1372	13.1259	0.59354	0.0:0.0:0.4582:0.5418	.	328;393;393	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	W	393;328;393	ENSP00000363036:R393W;ENSP00000341161:R328W	ENSP00000341161:R328W	R	-	1	2	FBXW2	122566846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	0.155000	0.19261	0.563000	0.77884	CGG		0.517	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			5	514	0	0	0	1	0	5	514					A	123527025	G	A	123527025	3	1	116	1	0	0	0	0	1	0	0	0	5791	1086	38	1	191	1	FBXW2	9	123527025	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	29354246	123527025	17686406	52	37395											
UNC5B	219699	broad.mit.edu	37	chr10	73050693	73050693	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggaggcctcaggggatgCggcgctgtatgcggggctcg	20	10	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:73050693C>T	ENST00000335350.6	+	9	1537	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A363V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	374					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)		p.A374V(1)		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						TCAGGGGATGCGGCGCTGTAT	0.667																																						ENST00000335350.6																			1	Substitution - Missense(1)	p.A374V(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1120-1122)gCg>gTg		unc-5 homolog B (C. elegans)							126	131	129					10																	73050693		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050693C>T	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.1121C>T	10.37:g.73050693C>T	ENSP00000334329:p.Ala374Val					UNC5B_ENST00000373192.4_Missense_Mutation_p.A363V	p.A374V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1537	+			374					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1121C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619747	0.03636	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.38077	1.18;1.16	5.26	4.13	0.48395	.	0.192141	0.45126	N	0.000398	T	0.06096	0.0158	N	0.00044	-2.455	0.23754	N	0.996936	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.36065	-0.9763	10	0.02654	T	1	-9.8173	10.3055	0.43678	0.0:0.0795:0.0:0.9205	.	363;374	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	374;363	ENSP00000334329:A374V;ENSP00000362288:A363V	ENSP00000334329:A374V	A	+	2	0	UNC5B	72720699	1.000000	0.71417	0.959000	0.39883	0.190000	0.23558	5.063000	0.64332	0.856000	0.35383	-0.471000	0.05019	GCG		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	1109	0	0	0	1	0	7	1109					T	73050693	C	T	73050693	3	4	116	1	0	0	0	0	1	0	0	0	17046	768	27	1	1155	1	UNC5B	10	73050693	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		73050693	62484054	53	37396											
FAS	355	broad.mit.edu	37	chr10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-													agtgcagatgtaaaccaaacTttttttgtaactctactgta							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(397-399)ttfs		Fas cell surface death receptor							338	365	356					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768708delT	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"Tumor necrosis factor receptor superfamily", "CD molecules"	11920	protein-coding gene	gene with protein product	"TNF receptor superfamily member 6"	134637	"tumor necrosis factor receptor superfamily, member 6", "Fas (TNF receptor superfamily, member 6)"	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs					FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs	p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	617	+		Colorectal(252;0.0161)	134					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.397delT	CCDS7395.1																																																																																				0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			7	2335						7	2335	---	---	---	---	-	90768708	T	-	90768708	7	5	116	1	0	1	0	1	0	0	0	0	5706	1609	56	0	411	0	FAS	10	90768708	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	17718015	90768708	44766039	54	37397											
FAM53B	9679	broad.mit.edu	37	chr10	126384776	126384776	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgactcatcttctttggCgtgtgctgaaaacaaccaga	8	11	3	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:126384776C>T	ENST00000337318.3	-	3	295	c.84G>A	c.(82-84)acG>acA	p.T28T	FAM53B_ENST00000280780.6_Silent_p.T28T|FAM53B_ENST00000392754.3_Silent_p.T28T|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	28										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTTCTTTGGCGTGTGCTGAA	0.438																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(82-84)acG>acA		family with sequence similarity 53, member B							216	204	208					10																	126384776		2203	4300	6503	SO:0001819	synonymous_variant	9679							g.chr10:126384776C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.84G>A	10.37:g.126384776C>T						RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Silent_p.T28T|FAM53B_ENST00000392754.3_Silent_p.T28T	p.T28T	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	3	295	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	28					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Silent	SNP	ENST00000337318.3	37	c.84G>A	CCDS7641.1																																																																																				0.438	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		5	708	0	0	0	1	0	5	708					T	126384776	C	T	126384776	2	4	116	1	0	0	0	0	0	0	0	1	5605	755	27	1		1	FAM53B	10	126384776	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	35616068	126384776	9149971	55	37398											
AP2A2	161	broad.mit.edu	37	chr11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-													aggctcttgatggctatagtAaaaaaaagtacgtctgcaag							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132	134	134					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		9	690						9	690	---	---	---	---	-	970195	A	-	970195	7	5	116	1	0	1	0	1	0	0	0	0	740	363	13	0	173	0	AP2A2	11	970195	Frame_Shift_Del	DEL	A	TCGA-US-A77J-01A-11D-A32N-08		970195	134036321	56	37399											
C11orf46	120534	broad.mit.edu	37	chr11	30358275	30358275	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agctgaatgccgctgtgaccGcaagtggctgtatgagcaaa	13	9	0	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:30358275G>A	ENST00000282032.3	+	4	931	c.716G>A	c.(715-717)cGc>cAc	p.R239H		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	239						cytoplasm (GO:0005737)											CGCTGTGACCGCAAGTGGCTG	0.448																																						ENST00000282032.3																			0											c.(715-717)cGc>cAc		ADP-ribosylation factor-like 14 effector protein							166	143	151					11																	30358275		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30358275G>A	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.716G>A	11.37:g.30358275G>A	ENSP00000282032:p.Arg239His						p.R239H	NM_152316.1	NP_689529.1					4	931	+								Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.716G>A	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472899	0.96274	.	.	ENSG00000152219	ENST00000282032	T	0.80304	-1.36	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91211	0.4999	10	0.87932	D	0	-35.8543	19.571	0.95419	0.0:0.0:1.0:0.0	.	239	Q8N8R7	CK046_HUMAN	H	239	ENSP00000282032:R239H	ENSP00000282032:R239H	R	+	2	0	C11orf46	30314851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.709000	0.92574	0.655000	0.94253	CGC		0.448	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		6	534	0	0	0	1	0	6	534					A	30358275	G	A	30358275	3	1	116	1	0	0	0	0	1	0	0	0	1648	1087	38	1	726	1	C11orf46	11	30358275	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	29388080	30358275	104648241	57	37400											
FEN1	2237	broad.mit.edu	37	chr11	61563230	61563230	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcactaagcggctggtgaagGtcactaagcagcacaatgat	11	9	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61563230G>A	ENST00000305885.2	+	2	810	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCTGGTGAAGGTCACTAAGCA	0.587								Editing and processing nucleases																														ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(397-399)Gtc>Atc	Editing and processing nucleases	flap structure-specific endonuclease 1							51	54	53					11																	61563230		2202	4299	6501	SO:0001583	missense	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563230G>A	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.397G>A	11.37:g.61563230G>A	ENSP00000305480:p.Val133Ile					FADS2_ENST00000574708.1_Intron	p.V133I	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN			2	810	+			133			I-domain.			Missense_Mutation	SNP	ENST00000305885.2	37	c.397G>A	CCDS8010.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953594	0.34471	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.49139	0.79;0.79	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.90252	3.1	0.80722	D	1	B	0.23937	0.094	B	0.25140	0.058	T	0.64106	-0.6485	10	0.87932	D	0	-13.6593	14.568	0.68191	0.0703:0.0:0.9297:0.0	.	133	P39748	FEN1_HUMAN	I	133	ENSP00000305480:V133I;ENSP00000445692:V133I	ENSP00000305480:V133I	V	+	1	0	FEN1	61319806	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	7.250000	0.78287	1.446000	0.47643	-0.258000	0.10820	GTC		0.587	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		6	429	0	0	0	1	0	6	429					A	61563230	G	A	61563230	3	1	116	1	0	0	0	0	1	0	0	0	5837	1261	44	2	399	2	FEN1	11	61563230	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	31204955	61563230	73443286	58	37401											
FTH1	2495	broad.mit.edu	37	chr11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-													ccagtagtgactgattcacaTttttttccaaatgtaatgca							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)aatfs	p.N110fs	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|AP003733.1_ENST00000601917.1_5'Flank|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	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)	CTGATTCACATTTTTTTCCAA	0.423																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(328-330)atfs		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						193	185	188					11																	61732517		1894	4106	6000	SO:0001589	frameshift_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732517delT		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.329delA	11.37:g.61732517delT	ENSP00000273550:p.Asn110fs					BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	p.N110fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			3	563	-			110			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Frame_Shift_Del	DEL	ENST00000273550.7	37	c.329delA	CCDS41655.1																																																																																				0.423	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		8	1193						8	1193	---	---	---	---	-	61732517	T	-	61732517	7	5	116	1	0	1	0	1	0	0	0	0	6109	1493	52	0	230	0	FTH1	11	61732517	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	169287	61732517	73273999	59	37402											
RARRES3	5920	broad.mit.edu	37	chr11	63313708	63313709	+	Frame_Shift_Ins	INS	-	-	A													ttttgcgattaggagataccINSaaaaaaaagcgacagcctga					rs547099153|rs74932327		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:63313708_63313709insA	ENST00000255688.3	+	4	523_524	c.475_476insA	c.(475-477)caafs	p.Q159fs	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Frame_Shift_Ins_p.Q159fs	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	159					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TAGGAGATACCAAAAAAAAGCG	0.54																																						ENST00000255688.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(475-477)aaafs		retinoic acid receptor responder (tazarotene induced) 3																																				SO:0001589	frameshift_variant	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63313708_63313709insA		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.483dupA	11.37:g.63313716_63313716dupA	ENSP00000255688:p.Gln159fs					RARRES3_ENST00000354445.2_Frame_Shift_Ins_p.K159fs|RARRES3_ENST00000537871.1_3'UTR	p.K159fs	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN			4	523_524	+			159					B2R599|B4DDW2|E7ENZ7|O95200	Frame_Shift_Ins	INS	ENST00000255688.3	37	c.475_476insA	CCDS41662.1																																																																																				0.54	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			7	820						7	820	---	---	---	---	A	63313709	-	A	63313708	7	5	116	1	0	1	1	0	0	0	0	0	13107	595	21	0	489	0	RARRES3	11	63313708	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08	1581191	63313708	71692808	60	37403											
ME3	10873	broad.mit.edu	37	chr11	86209141	86209141	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcccaggcccaggatgCgctccccatcagtcaccacc	9	19	3	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:86209141C>T	ENST00000393324.3	-	5	822	c.569G>A	c.(568-570)cGc>cAc	p.R190H	ME3_ENST00000323418.6_Missense_Mutation_p.R128H|ME3_ENST00000359636.2_Missense_Mutation_p.R190H|ME3_ENST00000543262.1_Missense_Mutation_p.R190H|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	190					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)				GCCCAGGATGCGCTCCCCATC	0.632																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(568-570)cGc>cAc		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						90	81	84					11																	86209141		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86209141C>T	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.569G>A	11.37:g.86209141C>T	ENSP00000376998:p.Arg190His					ME3_ENST00000393324.3_Missense_Mutation_p.R190H|ME3_ENST00000525957.1_5'UTR|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.R128H|ME3_ENST00000359636.2_Missense_Mutation_p.R190H	p.R190H	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			6	895	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	190					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.569G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511271	0.85389	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.63	4.72	0.59763	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86637	0.1889	9	.	.	.	.	14.1833	0.65588	0.0:0.9276:0.0:0.0724	.	190	Q16798	MAON_HUMAN	H	190;190;190;190;128;128	ENSP00000352657:R190H;ENSP00000440246:R190H;ENSP00000376998:R190H;ENSP00000431182:R190H;ENSP00000315255:R128H	.	R	-	2	0	ME3	85886789	1.000000	0.71417	0.997000	0.53966	0.701000	0.40568	7.619000	0.83057	1.382000	0.46385	-0.136000	0.14681	CGC		0.632	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			5	512	0	0	0	1	0	5	512					T	86209141	C	T	86209141	3	4	116	1	0	0	0	0	1	0	0	0	9460	768	27	1	1285	1	ME3	11	86209141	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	22895433	86209141	48797375	61	37404											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	18	7	0	1	rs2926746		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64	76	73					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	966	0	0	0	1	0	8	966					A	57111705	G	A	57111705	2	1	116	1	0	0	0	0	0	0	0	1	10174	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		57111705	76740190	62	37405											
PTPRB	5787	broad.mit.edu	37	chr12	70946613	70946613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatttttgctgagtgggatcGcattttccacctaggctctc	9	10	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:70946613G>A	ENST00000261266.5	-	19	4706	c.4677C>T	c.(4675-4677)tgC>tgT	p.C1559C	PTPRB_ENST00000550857.1_Silent_p.C1469C|PTPRB_ENST00000451516.2_Silent_p.C1469C|PTPRB_ENST00000538708.1_Silent_p.C1469C|PTPRB_ENST00000550358.1_Silent_p.C1689C|PTPRB_ENST00000334414.6_Silent_p.C1777C	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1559				C -> R (in Ref. 1; CAA38066). {ECO:0000305}.	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)			GAGTGGGATCGCATTTTCCAC	0.428																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5329-5331)tgC>tgT		protein tyrosine phosphatase, receptor type, B							124	118	120					12																	70946613		1927	4149	6076	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946613G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4677C>T	12.37:g.70946613G>A						PTPRB_ENST00000538708.1_Silent_p.C1469C|PTPRB_ENST00000261266.5_Silent_p.C1559C|PTPRB_ENST00000550857.1_Silent_p.C1469C|PTPRB_ENST00000550358.1_Silent_p.C1689C|PTPRB_ENST00000451516.2_Silent_p.C1469C	p.C1777C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		21	5375	-	Renal(347;0.236)		1559			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5331C>T	CCDS44944.1																																																																																				0.428	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			6	291	0	0	0	1	0	6	291					A	70946613	G	A	70946613	2	1	116	1	0	0	0	0	0	0	0	1	12846	1079	38	1		1	PTPRB	12	70946613	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	13834908	70946613	62905282	63	37406											
PLXNC1	10154	broad.mit.edu	37	chr12	94676176	94676176	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaacaccattggccactatgAggtaagagcaagacttgacc	9	10	0	4			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:94676176A>G	ENST00000258526.4	+	23	4127	c.3878A>G	c.(3877-3879)gAg>gGg	p.E1293G	PLXNC1_ENST00000545312.1_Splice_Site_p.E32G|PLXNC1_ENST00000547057.1_Splice_Site_p.E340G|RP11-1105G2.3_ENST00000547927.1_Intron|RP11-1105G2.3_ENST00000551941.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1293					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCCACTATGAGGTAAGAGCA	0.478																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e23+1		plexin C1							111	96	101					12																	94676176		2203	4300	6503	SO:0001630	splice_region_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94676176A>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3879+1A>G	12.37:g.94676176A>G						PLXNC1_ENST00000547057.1_Splice_Site_p.E340_splice|RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Splice_Site_p.E32_splice	p.E1293_splice	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			23	4127	+			1293					Q59H25	Splice_Site	SNP	ENST00000258526.4	37	c.3879_splice	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.014070	0.54468	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11712	2.75;2.75;2.75	5.92	5.92	0.95590	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.150804	0.64402	D	0.000019	T	0.11367	0.0277	N	0.01352	-0.895	0.38650	D	0.951828	B;D	0.76494	0.117;0.999	B;D	0.69479	0.037;0.964	T	0.56226	-0.8014	10	0.72032	D	0.01	.	14.9345	0.70944	1.0:0.0:0.0:0.0	.	340;1293	B4DHQ7;O60486	.;PLXC1_HUMAN	G	1293;340;32	ENSP00000258526:E1293G;ENSP00000446720:E340G;ENSP00000439225:E32G	ENSP00000258526:E1293G	E	+	2	0	PLXNC1	93200307	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.329000	0.59260	2.270000	0.75569	0.459000	0.35465	GAG		0.478	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		Missense_Mutation	4	257	0	0	0	1	0	4	257					G	94676176	A	G	94676176	5	3	116	1	0	0	0	0	0	0	1	0	12168	318	11	4	3968	4	PLXNC1	12	94676176	Splice_Site	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	23729563	94676176	39175719	64	37407											
POLR3B	55703	broad.mit.edu	37	chr12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttagcttttAtctcttctttttgaagactt	3	5	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:106820980A>T	ENST00000228347.4	+	13	1329	c.1107A>T	c.(1105-1107)ttA>ttT	p.L369F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	369					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						TTTAGCTTTTATCTCTTCTTT	0.269																																						ENST00000228347.4																			0				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						c.(1105-1107)ttA>ttT		polymerase (RNA) III (DNA directed) polypeptide B							13	14	14					12																	106820980		2198	4295	6493	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820980A>T	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.1107A>T	12.37:g.106820980A>T	ENSP00000228347:p.Leu369Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR	p.L369F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1329	+			369					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1107A>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939401	0.73557	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81499	-0.9;-0.9;-1.5	5.62	1.54	0.23209	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.91354	3.2	0.80722	D	1	P	0.36944	0.574	P	0.52424	0.698	D	0.84399	0.0559	10	0.87932	D	0	-10.3515	3.7246	0.08470	0.4201:0.0:0.3069:0.2729	.	369	Q9NW08	RPC2_HUMAN	F	369;369;311;127;32	ENSP00000228347:L369F;ENSP00000445721:L311F;ENSP00000448398:L127F	ENSP00000228347:L369F	L	+	3	2	POLR3B	105345110	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.461000	0.21940	0.472000	0.27344	0.455000	0.32223	TTA		0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		11	75	0	0	0	1	0	11	75					T	106820980	A	T	106820980	3	4	116	1	0	0	0	0	1	0	0	0	12271	446	16	5	1157	5	POLR3B	12	106820980	Missense_Mutation	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	12144804	106820980	27030915	65	37408											
RPL6	6128	broad.mit.edu	37	chr12	112843029	112843029	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aattaggttcttaagacattTagaacaccaatttgtgagga	8	5	1	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:112843029T>C	ENST00000424576.2	-	7	1051	c.866A>G	c.(865-867)tAa>tGa	p.*289*	RPL6_ENST00000202773.9_Silent_p.*289*	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TTAAGACATTTAGAACACCAA	0.333																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(865-867)tAa>tGa		ribosomal protein L6							23	26	25					12																	112843029		2004	3730	5734	SO:0001819	synonymous_variant	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112843029T>C	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.866A>G	12.37:g.112843029T>C						RPL6_ENST00000202773.9_Silent_p.*289*	p.*289*	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			7	1051	-			0					Q2M3Q3|Q8WW97	Silent	SNP	ENST00000424576.2	37	c.866A>G	CCDS9162.1																																																																																				0.333	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			6	213	0	0	0	1	0	6	213					C	112843029	T	C	112843029	2	2	116	1	0	0	0	0	0	0	0	1	13648	1761	61	4		4	RPL6	12	112843029	Silent	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	6022049	112843029	21008866	66	37409											
EP400	57634	broad.mit.edu	37	chr12	132466657	132466657	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaatgccccccacgccGcaggccgcgcagctcgctgg	15	17	0	0	rs368365311		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132466657G>A	ENST00000333577.4	+	6	1780	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000330386.6_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000389561.2_Silent_p.P521P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					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)		CCCCCACGCCGCAGGCCGCGC	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1669-1671)ccG>ccA		E1A binding protein p400		G		0,4374		0,0,2187	114	130	125		1563	-3.2	0.7	12		125	1,8527		0,1,4263	no	coding-synonymous	EP400	NM_015409.4		0,1,6450	AA,AG,GG		0.0117,0.0,0.0078		521/3124	132466657	1,12901	2187	4264	6451	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466657G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1671G>A	12.37:g.132466657G>A						EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000330386.6_Silent_p.P521P	p.P557P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1780	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	557					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1671G>A																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	1224	0	0	0	1	0	8	1224					A	132466657	G	A	132466657	2	1	116	1	0	0	0	0	0	0	0	1	5167	1074	38	1		1	EP400	12	132466657	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	19623628	132466657	1385238	67	37410											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_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																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	332	0	0	0	1	0	8	332					A	132547141	G	A	132547141	2	1	116	1	0	0	0	0	0	0	0	1	5167	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	80484	132547141	1304754	68	37411											
BRCA2	675	broad.mit.edu	37	chr13	32912028	32912028	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gattggtcaggtagacagcaGcaagcaatttgaaggtacag	13	6	1	2	rs397507674		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr13:32912028G>A	ENST00000380152.3	+	11	3769	c.3536G>A	c.(3535-3537)aGc>aAc	p.S1179N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S1179N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1179			S -> N (in BC). {ECO:0000269|PubMed:11139248}.		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)		GTAGACAGCAGCAAGCAATTT	0.388			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"D, Mis, N, F, S"	familial breast/ovarian cancer gene 2			"L, E"		"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"	"breast, ovarian, pancreatic"		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM003132	BRCA2	M		c.(3535-3537)aGc>aAc	Homologous recombination	breast cancer 2, early onset							93	93	93					13																	32912028		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912028G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3536G>A	13.37:g.32912028G>A	ENSP00000369497:p.Ser1179Asn	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S1179N	p.S1179N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3763	+		Lung SC(185;0.0262)	1179		S -> N (in BC).			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3536G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	1.834	-0.469214	0.04445	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00730	5.77;5.77	5.75	2.62	0.31277	.	0.385490	0.28031	N	0.016874	T	0.00875	0.0029	L	0.47190	1.495	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.46555	-0.9183	10	0.30078	T	0.28	.	6.9243	0.24405	0.3028:0.1303:0.5668:0.0	.	1179	P51587	BRCA2_HUMAN	N	1179	ENSP00000369497:S1179N;ENSP00000439902:S1179N	ENSP00000369497:S1179N	S	+	2	0	BRCA2	31810028	0.007000	0.16637	0.502000	0.27614	0.061000	0.15899	0.370000	0.20433	0.763000	0.33175	0.655000	0.94253	AGC		0.388	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		6	476	0	0	0	1	0	6	476					A	32912028	G	A	32912028	3	1	116	1	0	0	0	0	1	0	0	0	1503	971	34	2	3574	2	BRCA2	13	32912028	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		32912028	82257850	69	37412											
TEP1	7011	broad.mit.edu	37	chr14	20852647	20852647	+	Frame_Shift_Del	DEL	C	C	-													agggccggccagctgccacaCccccccactcacaggggtat							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:20852647delC	ENST00000262715.5	-	23	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					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)	p.V1082fs*47(1)		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)		AGCTGCCACACCCCCCCACTC	0.587																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)gtfs		telomerase-associated protein 1							108	128	121					14																	20852647		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852647delC		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.3242delG	14.37:g.20852647delC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.3242delG	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	1358						7	1358	---	---	---	---	-	20852647	C	-	20852647	7	5	116	1	0	1	0	1	0	0	0	0	15811	507	18	0	4773	0	TEP1	14	20852647	Frame_Shift_Del	DEL	C	TCGA-US-A77J-01A-11D-A32N-08		20852647	86496893	70	37413											
G2E3	55632	broad.mit.edu	37	chr14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A													tagagttaggattccaaattINSaaaaaaaaaactaaaagatt							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	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																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1069-1074)ataaaafs		G2/M-phase specific E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074771_31074772insA	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					G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000544007.1_Intron	p.IK357fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1225_1226	+			357					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	ENST00000206595.6	37	c.1071_1072insA	CCDS9638.1																																																																																				0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		10	123						10	123	---	---	---	---	A	31074772	-	A	31074771	7	5	116	1	0	1	1	0	0	0	0	0	6167	1742	61	0	1109	0	G2E3	14	31074771	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08	10222124	31074771	76274769	71	37414											
ABHD12B	145447	broad.mit.edu	37	chr14	51370808	51370808	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcagctctatgaaattgcacGcaatgcatacaggaacaaag	9	9	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:51370808G>A	ENST00000337334.2	+	12	974	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	320							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAAATTGCACGCAATGCATAC	0.428																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(958-960)cGc>cAc		abhydrolase domain containing 12B							157	151	153					14																	51370808		2203	4300	6503	SO:0001583	missense	145447						hydrolase activity	g.chr14:51370808G>A	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.959G>A	14.37:g.51370808G>A	ENSP00000336693:p.Arg320His					ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H	p.R320H	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			12	974	+	all_epithelial(31;0.00481)|Breast(41;0.148)		320					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	c.959G>A	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217756	0.01542	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.23754	1.89;1.89;1.89	4.94	1.25	0.21368	.	0.728272	0.14374	N	0.323573	T	0.15089	0.0364	N	0.25485	0.75	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.0;0.005	T	0.32107	-0.9919	10	0.19147	T	0.46	-16.0339	7.6177	0.28167	0.615:0.0:0.385:0.0	.	320;243	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	H	243;320;213	ENSP00000343951:R243H;ENSP00000336693:R320H;ENSP00000379101:R213H	ENSP00000336693:R320H	R	+	2	0	ABHD12B	50440558	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.220000	0.09215	0.117000	0.18138	-0.238000	0.12139	CGC		0.428	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			6	694	0	0	0	1	0	6	694					A	51370808	G	A	51370808	3	1	116	1	0	0	0	0	1	0	0	0	77	1087	38	1	784	1	ABHD12B	14	51370808	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	20296037	51370808	55978732	72	37415											
PTPN21	11099	broad.mit.edu	37	chr14	88971661	88971661	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttaccacaggaaacaagGcaaatttctgaagaaagtcc	8	9	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:88971661G>A	ENST00000556564.1	-	5	787	c.503C>T	c.(502-504)gCc>gTc	p.A168V	PTPN21_ENST00000328736.3_Missense_Mutation_p.A168V|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	168	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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						AGGAAACAAGGCAAATTTCTG	0.328																																						ENST00000556564.1																			0				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						c.(502-504)gCc>gTc		protein tyrosine phosphatase, non-receptor type 21							98	106	103					14																	88971661		2203	4299	6502	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88971661G>A	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.503C>T	14.37:g.88971661G>A	ENSP00000452414:p.Ala168Val					PTPN21_ENST00000328736.3_Missense_Mutation_p.A168V|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	p.A168V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			5	787	-			168			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.503C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	7.047	0.563725	0.13498	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.79033	-1.23;-1.23;-1.23	5.18	5.18	0.71444	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.141914	0.46442	D	0.000287	T	0.51466	0.1676	N	0.01505	-0.83	0.44603	D	0.997578	B;B	0.32302	0.0;0.363	B;B	0.31812	0.001;0.136	T	0.61118	-0.7127	10	0.02654	T	1	.	19.0658	0.93110	0.0:0.0:1.0:0.0	.	168;168	G3V3S6;Q16825	.;PTN21_HUMAN	V	168	ENSP00000330276:A168V;ENSP00000452414:A168V;ENSP00000451401:A168V	ENSP00000330276:A168V	A	-	2	0	PTPN21	88041414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.027000	0.57239	2.567000	0.86603	0.655000	0.94253	GCC		0.328	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	518	0	0	0	1	0	5	518					A	88971661	G	A	88971661	3	1	116	1	0	0	0	0	1	0	0	0	12836	1203	42	2	3081	2	PTPN21	14	88971661	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	37600853	88971661	18377879	73	37416											
AHNAK2	113146	broad.mit.edu	37	chr14	105414639	105414639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggccctctgggagtttcacAtccacttggccagcctggac	12	14	2	0	rs369469963	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:105414639A>G	ENST00000333244.5	-	7	7268	c.7149T>C	c.(7147-7149)gaT>gaC	p.D2383D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2383						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)			GGAGTTTCACATCCACTTGGC	0.632													.|||	5	0.000998403	0.0015	0.0014	5008	,	,		17045	0.001		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7147-7149)gaT>gaC		AHNAK nucleoprotein 2		G		11,3799		0,11,1894	110	123	119		7149	-8	0	14		119	0,8230		0,0,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,11,6009	GG,GA,AA		0.0,0.2887,0.0914		2383/5796	105414639	11,12029	1905	4115	6020	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414639A>G	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.7149T>C	14.37:g.105414639A>G						AHNAK2_ENST00000557457.1_Intron	p.D2383D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7268	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2383					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7149T>C	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	1172	0	0	0	1	0	8	1172					G	105414639	A	G	105414639	2	3	116	1	0	0	0	0	0	0	0	1	415	214	8	4		4	AHNAK2	14	105414639	Silent	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	16442978	105414639	1934901	74	37417											
AHNAK2	113146	broad.mit.edu	37	chr14	105416054	105416054	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgggcatcttgaaactggGcatatccaccttgggcaagt	11	9	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:105416054G>A	ENST00000333244.5	-	7	5853	c.5734C>T	c.(5734-5736)Ccc>Tcc	p.P1912S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1912						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P1912S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAAACTGGGCATATCCACC	0.627																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.P1912S(1)	urinary_tract(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5734-5736)Ccc>Tcc		AHNAK nucleoprotein 2							124	135	132					14																	105416054		1854	4063	5917	SO:0001583	missense	113146					nucleus		g.chr14:105416054G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5734C>T	14.37:g.105416054G>A	ENSP00000353114:p.Pro1912Ser					AHNAK2_ENST00000557457.1_Intron	p.P1912S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5853	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1912					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5734C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	14.70	2.614154	0.46631	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.41	3.41	0.39046	.	.	.	.	.	T	0.21468	0.0517	M	0.88031	2.925	0.32229	N	0.574173	D	0.89917	1.0	D	0.83275	0.996	T	0.31641	-0.9936	9	0.46703	T	0.11	-18.4713	14.464	0.67470	0.0:0.0:1.0:0.0	.	1912	Q8IVF2	AHNK2_HUMAN	S	1912	ENSP00000353114:P1912S	ENSP00000353114:P1912S	P	-	1	0	AHNAK2	104487099	0.545000	0.26449	0.996000	0.52242	0.111000	0.19643	0.860000	0.27871	1.460000	0.47911	0.485000	0.47835	CCC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	1297	0	0	0	1	0	7	1297					A	105416054	G	A	105416054	3	1	116	1	0	0	0	0	1	0	0	0	415	1203	42	2	11657	2	AHNAK2	14	105416054	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	1415	105416054	1933486	75	37418											
C15orf54	400360	broad.mit.edu	37	chr15	39544396	39544396	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaccccagagggctgagccGcaaagaatttgcagagcctt	12	11	0	5			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						ENST00000318578.3																			1	Substitution - coding silent(1)	p.P20P(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(58-60)ccG>ccA		chromosome 15 open reading frame 54							200	201	200					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544396G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A						RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20					B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																				0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		6	1094	0	0	0	1	0	6	1094					A	39544396	G	A	39544396	2	1	116	1	0	0	0	0	0	0	0	1	1807	1074	38	1		1	C15orf54	15	39544396	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		39544396	62986996	76	37419											
SRP14	6727	broad.mit.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-													gctgttgctgctgcggcaggTgctgctgctgctgctgctgc					rs371085676|rs377432895	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		9	313						9	313	---	---	---	---	-	40328599	TGC	-	40328597	7	5	116	1	0	1	0	1	0	0	0	0	15205	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-US-A77J-01A-11D-A32N-08	784201	40328597	62202795	77	37420											
FAM82A2	55177	broad.mit.edu	37	chr15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T													ttcaagcaaggctgtagcagINStttttttttctagccagctc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					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)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	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.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.45	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		7	419						7	419	---	---	---	---	T	41029894	-	T	41029893	7	5	116	1	0	1	1	0	0	0	0	0	5656	1029	36	0	271	0	FAM82A2	15	41029893	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08	701296	41029893	61501499	78	37421											
NOX5	79400	broad.mit.edu	37	chr15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-													cctccccgacaggtgtcgctCtgctgctgctgctcctcctc					rs370141395		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		10	906						10	906	---	---	---	---	-	69328210	CTG	-	69328208	7	5	116	1	0	1	0	1	0	0	0	0	10601	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-US-A77J-01A-11D-A32N-08	28298315	69328208	33203184	79	37422											
LINGO1	84894	broad.mit.edu	37	chr15	77907685	77907685	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctccaggctgttgaggccGctgaaggcgcggtgagagat	17	9	0	4			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:77907685G>A	ENST00000355300.6	-	2	738	c.564C>T	c.(562-564)agC>agT	p.S188S	LINGO1_ENST00000561030.1_Silent_p.S182S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	188					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)		p.S182S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGTTGAGGCCGCTGAAGGCGC	0.582																																						ENST00000355300.6																			1	Substitution - coding silent(1)	p.S182S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(562-564)agC>agT		leucine rich repeat and Ig domain containing 1							122	129	127					15																	77907685		2168	4265	6433	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907685G>A	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.564C>T	15.37:g.77907685G>A						LINGO1_ENST00000561030.1_Silent_p.S182S	p.S188S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	738	-			188					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.564C>T	CCDS45313.1																																																																																				0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		5	617	0	0	0	1	0	5	617					A	77907685	G	A	77907685	2	1	116	1	0	0	0	0	0	0	0	1	8847	1078	38	1		1	LINGO1	15	77907685	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	8579477	77907685	24623707	80	37423											
NARFL	64428	broad.mit.edu	37	chr16	780576	780576	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagcccggaccatgccGtacagtctctccacgtgctg	10	17	2	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:780576G>A	ENST00000251588.2	-	11	1288	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	NARFL_ENST00000568545.1_Silent_p.Y322Y|NARFL_ENST00000540986.1_Silent_p.Y322Y|NARFL_ENST00000562862.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	424					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)				GGACCATGCCGTACAGTCTCT	0.682																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(964-966)taC>taT		nuclear prelamin A recognition factor-like							48	49	49					16																	780576		2198	4293	6491	SO:0001819	synonymous_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:780576G>A	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.1272C>T	16.37:g.780576G>A						NARFL_ENST00000251588.2_Silent_p.Y424Y|NARFL_ENST00000568545.1_Silent_p.Y322Y|NARFL_ENST00000562862.1_5'UTR	p.Y322Y			Q9H6Q4	NARFL_HUMAN			10	2401	-		Hepatocellular(780;0.0218)	424					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	c.966C>T	CCDS10425.1																																																																																				0.682	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		5	480	0	0	0	1	0	5	480					A	780576	G	A	780576	2	1	116	1	0	0	0	0	0	0	0	1	10209	1140	40	1		1	NARFL	16	780576	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		780576	89574177	81	37424											
ZNF629	23361	broad.mit.edu	37	chr16	30793261	30793261	+	Frame_Shift_Del	DEL	G	G	-													ggaggggggtcctcgggattGgggggtttttcctgggtgtg							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:30793261delG	ENST00000262525.4	-	3	2595	c.2388delC	c.(2386-2388)cccfs	p.P796fs	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			CCTCGGGATTGGGGGGTTTTT	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2386-2388)ccfs		zinc finger protein 629							80	94	90					16																	30793261		1905	4111	6016	SO:0001589	frameshift_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793261delG	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.2388delC	16.37:g.30793261delG	ENSP00000262525:p.Pro796fs						p.P796fs	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2595	-			796					Q15938	Frame_Shift_Del	DEL	ENST00000262525.4	37	c.2388delC	CCDS45463.1																																																																																				0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		7	1209						7	1209	---	---	---	---	-	30793261	G	-	30793261	7	5	116	1	0	1	0	1	0	0	0	0	18106	1335	47	0	225	0	ZNF629	16	30793261	Frame_Shift_Del	DEL	G	TCGA-US-A77J-01A-11D-A32N-08	30012685	30793261	59561492	82	37425											
EDC4	23644	broad.mit.edu	37	chr16	67913803	67913803	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcagcagcagcagcagCagtagcagcagctcccttac	12	13	0	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1870-1872)agC>agT		enhancer of mRNA decapping 4							36	33	34					16																	67913803		2193	4282	6475	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913803C>T	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.1872C>T	16.37:g.67913803C>T							p.S624S	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2111	+		Ovarian(137;0.0563)	624			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1872C>T	CCDS10849.1																																																																																				0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	304	0	0	0	1	0	6	304					T	67913803	C	T	67913803	2	4	116	1	0	0	0	0	0	0	0	1	4924	709	25	2		2	EDC4	16	67913803	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	37120542	67913803	22440950	83	37426											
KARS	3735	broad.mit.edu	37	chr16	75665392	75665392	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctaccatgttgattcgccGgaagggtggggtgaagtcaa	14	7	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:75665392G>A	ENST00000302445.3	-	9	1213	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	KARS_ENST00000319410.5_Missense_Mutation_p.R420W|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	392					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)	TTGATTCGCCGGAAGGGTGGG	0.522																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1258-1260)Cgg>Tgg		lysyl-tRNA synthetase	L-Lysine(DB00123)						116	111	113					16																	75665392		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665392G>A	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.1174C>T	16.37:g.75665392G>A	ENSP00000303043:p.Arg392Trp					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R392W	p.R420W	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			10	1379	-			392					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1258C>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878411	0.51801	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.79940	-1.32;-1.32	5.91	4.94	0.65067	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.046280	0.85682	D	0.000000	D	0.86973	0.6062	H	0.97983	4.12	0.80722	D	1	B;B	0.33103	0.397;0.197	B;B	0.29524	0.103;0.081	D	0.88357	0.2985	10	0.87932	D	0	-9.8305	12.9716	0.58515	0.0:0.0:0.7056:0.2944	.	420;392	Q15046-2;Q15046	.;SYK_HUMAN	W	420;392	ENSP00000325448:R420W;ENSP00000303043:R392W	ENSP00000303043:R392W	R	-	1	2	KARS	74222893	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.716000	0.68437	1.480000	0.48289	-0.181000	0.13052	CGG		0.522	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		6	496	0	0	0	1	0	6	496					A	75665392	G	A	75665392	3	1	116	1	0	0	0	0	1	0	0	0	8010	1115	39	1	643	1	KARS	16	75665392	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	7751589	75665392	14689361	84	37427											
C16orf46	123775	broad.mit.edu	37	chr16	81095470	81095470	+	Frame_Shift_Del	DEL	T	T	-													aaactccttgatttgcagacTttttttctctgctcgaaagt							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:81095470delT	ENST00000299578.5	-	4	719	c.484delA	c.(484-486)agtfs	p.S162fs	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000378611.4_Frame_Shift_Del_p.S162fs	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	162						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATTTGCAGACTTTTTTTCTCT	0.572																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(484-486)gtfs		chromosome 16 open reading frame 46							146	155	152					16																	81095470		2202	4300	6502	SO:0001589	frameshift_variant	123775							g.chr16:81095470delT	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.484delA	16.37:g.81095470delT	ENSP00000299578:p.Ser162fs					C16orf46_ENST00000299578.5_Frame_Shift_Del_p.S162fs|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	p.S162fs	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	599	-			162					Q96MA7	Frame_Shift_Del	DEL	ENST00000299578.5	37	c.484delA	CCDS10932.1																																																																																				0.572	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		7	1467						7	1467	---	---	---	---	-	81095470	T	-	81095470	7	5	116	1	0	1	0	1	0	0	0	0	1820	1609	56	0	735	0	C16orf46	16	81095470	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	5430078	81095470	9259283	85	37428											
MYH10	4628	broad.mit.edu	37	chr17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-													cttctccaggttcttcctggCctcctcctcctcctcctgct					rs146612839		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					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						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4162-4167)gcc>g		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397095_8397097delCCT	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.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del					MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del	p.EA1388del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4301_4303	-			1357					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.4163_4165delAGG	CCDS11144.1																																																																																				0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	353						8	353	---	---	---	---	-	8397097	CCT	-	8397095	7	5	116	1	0	1	0	1	0	0	0	0	10071	739	26	0	1906	0	MYH10	17	8397095	In_Frame_Del	DEL	CCT	TCGA-US-A77J-01A-11D-A32N-08		8397095	72798115	86	37429											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	11	13	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	423	0	0	0	1	0	6	423					G	16285497	A	G	16285497	2	3	116	1	0	0	0	0	0	0	0	1	16895	69	3	4		4	UBB	17	16285497	Silent	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	7888402	16285497	64909713	87	37430											
FLII	2314	broad.mit.edu	37	chr17	18148568	18148568	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcatgttccttggaccGcatgtgctggatatatacct	9	12	1	0	rs374095780		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:18148568G>A	ENST00000327031.4	-	30	3919	c.3694C>T	c.(3694-3696)Cgg>Tgg	p.R1232W	FLII_ENST00000545457.2_Missense_Mutation_p.R1177W|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.R1146W|FLII_ENST00000579294.1_Missense_Mutation_p.R1221W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1232					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCCTTGGACCGCATGTGCTGG	0.657																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3694-3696)Cgg>Tgg		flightless I homolog (Drosophila)		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92	94	93		3694	2.9	1	17		93	0,8600		0,0,4300	no	missense	FLII	NM_002018.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1232/1270	18148568	1,13005	2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148568G>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3694C>T	17.37:g.18148568G>A	ENSP00000324573:p.Arg1232Trp					FLII_ENST00000379450.4_Missense_Mutation_p.R1146W|FLII_ENST00000579294.1_Missense_Mutation_p.R1221W|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.R1177W	p.R1232W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			30	3919	-	all_neural(463;0.228)		1232					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3694C>T	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798382	0.50208	2.27E-4	0.0	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.23348	1.91;1.91	5.01	2.86	0.33363	Gelsolin domain (1);	0.198108	0.38837	N	0.001550	T	0.49440	0.1557	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.983;0.983;0.998;0.998	T	0.57370	-0.7823	10	0.87932	D	0	-14.602	13.6195	0.62128	0.0:0.0:0.6303:0.3697	.	1146;1146;1232;1201	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	W	1232;1111;1146	ENSP00000324573:R1232W;ENSP00000368763:R1146W	ENSP00000324573:R1232W	R	-	1	2	FLII	18089293	1.000000	0.71417	0.985000	0.45067	0.086000	0.17979	1.488000	0.35551	1.316000	0.45131	0.655000	0.94253	CGG		0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		6	868	0	0	0	1	0	6	868					A	18148568	G	A	18148568	3	1	116	1	0	0	0	0	1	0	0	0	5950	1086	38	1	119	1	FLII	17	18148568	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	1863071	18148568	63046642	88	37431											
SUPT6H	6830	broad.mit.edu	37	chr17	27027990	27027990	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccagcccagcagccagtggCcacaccactaatgaccccta	8	18	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:27027990C>T	ENST00000314616.6	+	36	5121	c.4838C>T	c.(4837-4839)gCc>gTc	p.A1613V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1613V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1613					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)					CAGCCAGTGGCCACACCACTA	0.587																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4837-4839)gCc>gTc		suppressor of Ty 6 homolog (S. cerevisiae)							211	212	212					17																	27027990		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027990C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4838C>T	17.37:g.27027990C>T	ENSP00000319104:p.Ala1613Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1613V	p.A1613V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			36	5121	+	Lung NSC(42;0.00431)		1613					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.4838C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654734	0.67472	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.44542	1.39	0.80722	D	1	P	0.48764	0.915	B	0.38500	0.275	T	0.40997	-0.9533	9	0.25751	T	0.34	-13.43	18.8074	0.92043	0.0:1.0:0.0:0.0	.	1613	Q7KZ85	SPT6H_HUMAN	V	1613	.	ENSP00000319104:A1613V	A	+	2	0	SUPT6H	24052117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.973000	0.76116	2.465000	0.83290	0.650000	0.86243	GCC		0.587	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	1170	0	0	0	1	0	7	1170					T	27027990	C	T	27027990	3	4	116	1	0	0	0	0	1	0	0	0	15452	739	26	2	4976	2	SUPT6H	17	27027990	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	8879422	27027990	54167220	89	37432											
GGNBP2	79893	broad.mit.edu	37	chr17	34913131	34913131	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtctgtaactagaagctGcatgactgatgcaaagaagc	10	9	1	4			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:34913131G>A	ENST00000304718.4	+	4	699	c.383G>A	c.(382-384)tGc>tAc	p.C128Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	128					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)		ACTAGAAGCTGCATGACTGAT	0.403																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(382-384)tGc>tAc		gametogenetin binding protein 2							115	106	109					17																	34913131		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34913131G>A	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.383G>A	17.37:g.34913131G>A	ENSP00000307617:p.Cys128Tyr						p.C128Y	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	699	+		Breast(25;0.00957)|Ovarian(249;0.17)	128					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.383G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509292	0.27036	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.14	5.14	0.70334	.	0.046253	0.85682	D	0.000000	T	0.36276	0.0961	N	0.08118	0	0.80722	D	1	B;B	0.25955	0.138;0.002	B;B	0.18561	0.022;0.001	T	0.21586	-1.0241	9	0.32370	T	0.25	-6.8109	13.9329	0.64007	0.0:0.0:0.8478:0.1522	.	128;128	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	Y	128	.	ENSP00000307617:C128Y	C	+	2	0	GGNBP2	31987244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.027000	0.76463	2.579000	0.87056	0.585000	0.79938	TGC		0.403	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		5	329	0	0	0	1	0	5	329					A	34913131	G	A	34913131	3	1	116	1	0	0	0	0	1	0	0	0	6388	1319	46	2	393	2	GGNBP2	17	34913131	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	7885141	34913131	46282079	90	37433											
KRT20	54474	broad.mit.edu	37	chr17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgtcgtcccgaggcGctgcatgcccactgtactga	14	13	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(82-84)Cgc>Tgc		keratin 20							36	36	36					17																	39041356		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041356G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.82C>T	17.37:g.39041356G>A	ENSP00000167588:p.Arg28Cys						p.R28C	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			1	123	-		Breast(137;0.000301)|Ovarian(249;0.15)	28			Head.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.82C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077922	0.55753	.	.	ENSG00000171431	ENST00000167588	D	0.84070	-1.8	5.17	1.94	0.25998	.	1.630110	0.03448	N	0.210284	T	0.69842	0.3156	N	0.14661	0.345	0.09310	N	0.99999	B	0.10296	0.003	B	0.04013	0.001	T	0.58323	-0.7656	10	0.38643	T	0.18	.	4.8168	0.13371	0.0849:0.1149:0.5878:0.2124	.	28	P35900	K1C20_HUMAN	C	28	ENSP00000167588:R28C	ENSP00000167588:R28C	R	-	1	0	KRT20	36294882	0.999000	0.42202	0.609000	0.28983	0.014000	0.08584	1.653000	0.37323	1.332000	0.45431	0.655000	0.94253	CGC		0.597	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			6	269	0	0	0	1	0	6	269					A	39041356	G	A	39041356	3	1	116	1	0	0	0	0	1	0	0	0	8488	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	4128225	39041356	42153854	91	37434											
CRHR1	1394	broad.mit.edu	37	chr17	43906638	43906638	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tcaactacctgggccactgtAtctccctggtggccctcctg	9	16	2	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:43906638A>G	ENST00000398285.3	+	5	385	c.385A>G	c.(385-387)Atc>Gtc	p.I129V	CRHR1_ENST00000339069.5_Missense_Mutation_p.I28V|CRHR1_ENST00000314537.5_Missense_Mutation_p.I129V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I89V|CRHR1_ENST00000577353.1_Missense_Mutation_p.I129V|CRHR1_ENST00000293493.7_5'UTR	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	129					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)		GGGCCACTGTATCTCCCTGGT	0.577																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(385-387)Atc>Gtc		corticotropin releasing hormone receptor 1							89	96	94					17																	43906638		2073	4202	6275	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43906638A>G	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.385A>G	17.37:g.43906638A>G	ENSP00000381333:p.Ile129Val					CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.I129V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I89V|CRHR1_ENST00000339069.5_Missense_Mutation_p.I28V|CRHR1_ENST00000398285.3_Missense_Mutation_p.I129V	p.I129V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	610	+	Colorectal(2;0.0416)		129					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.385A>G	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908988	0.33721	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.68903	1.01;1.16;1.34;-0.36;1.34	5.43	-0.961	0.10337	GPCR, family 2-like (1);	0.232077	0.43747	N	0.000524	T	0.38612	0.1047	N	0.11284	0.12	0.80722	D	1	B;B;B;B;B;B	0.19073	0.001;0.0;0.0;0.033;0.0;0.0	B;B;B;B;B;B	0.18871	0.003;0.001;0.003;0.023;0.002;0.003	T	0.13176	-1.0519	10	0.09843	T	0.71	.	9.8797	0.41225	0.5155:0.0:0.4845:0.0	.	129;129;28;28;89;129	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	28;129;129;129;89	ENSP00000340522:I28V;ENSP00000381333:I129V;ENSP00000326060:I129V;ENSP00000239167:I129V;ENSP00000344068:I89V	ENSP00000326060:I129V	I	+	1	0	CRHR1	41262419	0.771000	0.28555	0.990000	0.47175	0.979000	0.70002	0.984000	0.29565	-0.209000	0.10156	0.459000	0.35465	ATC		0.577	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			4	207	0	0	0	1	0	4	207					G	43906638	A	G	43906638	3	3	116	1	0	0	0	0	1	0	0	0	3880	449	16	4	403	4	CRHR1	17	43906638	Missense_Mutation	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	4865282	43906638	37288572	92	37435											
AKAP1	8165	broad.mit.edu	37	chr17	55183460	55183460	+	Frame_Shift_Del	DEL	A	A	-													tggtgatgccgtgttgggggAaaaggtgcttgaagaagctc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:55183460delA	ENST00000337714.3	+	2	868	c.635delA	c.(634-636)gaafs	p.E212fs	AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	212					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)					GTGTTGGGGGAAAAGGTGCTT	0.587																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(634-636)gafs		A kinase (PRKA) anchor protein 1							92	91	91					17																	55183460		2203	4300	6503	SO:0001589	frameshift_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183460delA	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.635delA	17.37:g.55183460delA	ENSP00000337736:p.Glu212fs					AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs	p.E212fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	868	+	Breast(9;5.46e-08)		212					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Frame_Shift_Del	DEL	ENST00000337714.3	37	c.635delA	CCDS11594.1																																																																																				0.587	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			7	617						7	617	---	---	---	---	-	55183460	A	-	55183460	7	5	116	1	0	1	0	1	0	0	0	0	445	246	9	0	637	0	AKAP1	17	55183460	Frame_Shift_Del	DEL	A	TCGA-US-A77J-01A-11D-A32N-08	11276822	55183460	26011750	93	37436											
HELZ	9931	broad.mit.edu	37	chr17	65134199	65134199	+	Frame_Shift_Del	DEL	A	A	-													ctactggccacttccttcttAactcttctacacgttccacc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:65134199delA	ENST00000358691.5	-	22	2967	c.2801delT	c.(2800-2802)ttafs	p.L934fs	HELZ_ENST00000580168.1_Frame_Shift_Del_p.L935fs	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	934						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)					CTTCCTTCTTAACTCTTCTAC	0.388																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2800-2802)tafs		helicase with zinc finger							134	133	133					17																	65134199		2106	4232	6338	SO:0001589	frameshift_variant	9931							g.chr17:65134199delA	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.2801delT	17.37:g.65134199delA	ENSP00000351524:p.Leu934fs					HELZ_ENST00000580168.1_Frame_Shift_Del_p.L935fs	p.L934fs	NM_014877.3	NP_055692.2					22	2967	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Frame_Shift_Del	DEL	ENST00000358691.5	37	c.2801delT	CCDS42374.1																																																																																				0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		7	573						7	573	---	---	---	---	-	65134199	A	-	65134199	7	5	116	1	0	1	0	1	0	0	0	0	7079	372	13	0	3075	0	HELZ	17	65134199	Frame_Shift_Del	DEL	A	TCGA-US-A77J-01A-11D-A32N-08	9950739	65134199	16061011	94	37437											
TXNDC2	84203	broad.mit.edu	37	chr18	9887625	9887625	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctccaaaacaagccatccaGcccaaggagggtgacattcc	8	14	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:9887625G>A	ENST00000306084.6	+	2	1348	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Silent_p.Q316Q	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	383	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						AAGCCATCCAGCCCAAGGAGG	0.557																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1147-1149)caG>caA		thioredoxin domain containing 2 (spermatozoa)							133	122	126					18																	9887625		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887625G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1149G>A	18.37:g.9887625G>A						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.Q316Q	p.Q383Q	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1348	+			383			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1149G>A	CCDS42414.1																																																																																				0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	578	0	0	0	1	0	6	578					A	9887625	G	A	9887625	2	1	116	1	0	0	0	0	0	0	0	1	16851	962	34	2		2	TXNDC2	18	9887625	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		9887625	68189623	95	37438											
ZADH2	284273	broad.mit.edu	37	chr18	72913980	72913980	+	Frame_Shift_Del	DEL	T	T	-													gctgctgctgtcaccaaaacTtttttcccttccgacagtcc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:72913980delT	ENST00000322342.3	-	2	814	c.525delA	c.(523-525)aaafs	p.K175fs	ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	175						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)		TCACCAAAACTTTTTTCCCTT	0.517																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(523-525)aafs		zinc binding alcohol dehydrogenase domain containing 2							269	285	280					18																	72913980		2203	4300	6503	SO:0001589	frameshift_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913980delT	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.525delA	18.37:g.72913980delT	ENSP00000323678:p.Lys175fs					ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	p.K175fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	814	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	175					A8KA15|B4DZ91	Frame_Shift_Del	DEL	ENST00000322342.3	37	c.525delA	CCDS12008.1																																																																																				0.517	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		7	2332						7	2332	---	---	---	---	-	72913980	T	-	72913980	7	5	116	1	0	1	0	1	0	0	0	0	17565	1606	56	0	612	0	ZADH2	18	72913980	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	63026355	72913980	5163268	96	37439											
PNPLA6	10908	broad.mit.edu	37	chr19	7615191	7615191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctgttcctgcaggatcatgCgcgcacagcccagtgtggtg	13	12	2	0	rs548509810		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:7615191C>T	ENST00000221249.6	+	18	2136	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R543C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R608C|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R569C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R617C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	608			G -> W (in BNHS). {ECO:0000269|PubMed:24355708}.		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						CAGGATCATGCGCGCACAGCC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.0					ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1705-1707)Cgc>Tgc		patatin-like phospholipase domain containing 6							70	68	69					19																	7615191		2199	4288	6487	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7615191C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1705C>T	19.37:g.7615191C>T	ENSP00000221249:p.Arg569Cys					PNPLA6_ENST00000450331.3_Missense_Mutation_p.R569C|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R617C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R608C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R543C	p.R569C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			18	2136	+			608					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1705C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240367	0.79912	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.1	5.1	0.69264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.988	D	0.97186	0.9854	10	0.87932	D	0	.	11.164	0.48533	0.1838:0.8162:0.0:0.0	.	608;543;608;569	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	C	569;543;617;569	ENSP00000221249:R569C;ENSP00000443323:R543C;ENSP00000407509:R617C;ENSP00000394348:R569C	ENSP00000221249:R569C	R	+	1	0	PNPLA6	7521191	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.949000	0.49074	2.383000	0.81215	0.591000	0.81541	CGC		0.622	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		6	641	0	0	0	1	0	6	641					T	7615191	C	T	7615191	3	4	116	1	0	0	0	0	1	0	0	0	12211	768	27	1	1911	1	PNPLA6	19	7615191	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08		7615191	51513792	97	37440											
MUC16	94025	broad.mit.edu	37	chr19	9010971	9010971	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gacttgagttgaatactcacTgctggtgggggccacagagc	14	9	1	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:9010971T>A	ENST00000397910.4	-	37	39150	c.38947A>T	c.(38947-38949)Act>Tct	p.T12983S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12985					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						GAATACTCACTGCTGGTGGGG	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e37+1		mucin 16, cell surface associated							148	130	136					19																	9010971		1918	4121	6039	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9010971T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38947+1A>T	19.37:g.9010971T>A							p.T12983_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			37	39150	-			12985					Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.38947_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.43	1.346733	0.24426	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.01871	4.59	1.54	0.0919	0.14470	.	.	.	.	.	T	0.03011	0.0089	M	0.79805	2.47	.	.	.	P	0.35481	0.504	B	0.27380	0.079	T	0.24297	-1.0164	7	.	.	.	.	3.369	0.07213	0.0:0.3569:0.0:0.6431	.	12983	B5ME49	.	S	12983;136	ENSP00000381008:T12983S	.	T	-	1	0	MUC16	8871971	0.025000	0.19082	0.409000	0.26459	0.052000	0.14988	-0.334000	0.07883	-0.017000	0.14103	0.254000	0.18369	ACT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	6	631	0	0	0	1	0	6	631					A	9010971	T	A	9010971	5	1	116	1	0	0	0	0	0	0	1	0	10014	1594	55	5	4768	5	MUC16	19	9010971	Splice_Site	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	1395780	9010971	50118012	98	37441											
C19orf56	51398	broad.mit.edu	37	chr19	12779957	12779957	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaccttaagcatgaggccGcacatgctgaagatcatgcc	9	14	1	3			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:12779957G>A	ENST00000596731.1	-	2	2093	c.141C>T	c.(139-141)tgC>tgT	p.C47C	WDR83_ENST00000242796.4_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|MAN2B1_ENST00000456935.2_5'Flank|WDR83OS_ENST00000222190.5_Silent_p.C47C|CTD-2192J16.24_ENST00000597961.1_Silent_p.C45C|WDR83_ENST00000418543.3_Intron|MAN2B1_ENST00000221363.4_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand	47						integral component of membrane (GO:0016021)											GCATGAGGCCGCACATGCTGA	0.612																																						ENST00000596731.1																			0											c.(139-141)tgC>tgT		WD repeat domain 83 opposite strand							79	77	78					19																	12779957		2203	4300	6503	SO:0001819	synonymous_variant	51398					integral to membrane		g.chr19:12779957G>A	AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 56"	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.141C>T	19.37:g.12779957G>A						WDR83OS_ENST00000222190.5_Silent_p.C47C|CTD-2192J16.24_ENST00000597961.1_Silent_p.C45C|WDR83_ENST00000418543.3_Intron	p.C47C	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN			2	2093	-			47					B2R4T8|Q9BVI3	Silent	SNP	ENST00000596731.1	37	c.141C>T	CCDS12274.1																																																																																				0.612	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462702.1	NM_016145		6	404	0	0	0	1	0	6	404					A	12779957	G	A	12779957	2	1	116	1	0	0	0	0	0	0	0	1	1945	1079	38	1		1	C19orf56	19	12779957	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	3768986	12779957	46349026	99	37442											
CACNA1A	773	broad.mit.edu	37	chr19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acatgtccaggtaaggcatgCggcccctggcagcaccgaaa	12	13	0	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Intron	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	1846					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)	GTAAGGCATGCGGCCCCTGGC	0.493																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5533-5535)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						48	49	49					19																	13338336		1877	4112	5989	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13338336C>T	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.5534G>A	19.37:g.13338336C>T	ENSP00000353362:p.Arg1845His					CACNA1A_ENST00000573710.2_Intron	p.R1845H	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	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		37	5533	-			1846					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5534G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	331	0	0	0	1	0	5	331					T	13338336	C	T	13338336	3	4	116	1	0	0	0	0	1	0	0	0	2545	768	27	1	2030	1	CACNA1A	19	13338336	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	558379	13338336	45790647	100	37443											
NWD1	284434	broad.mit.edu	37	chr19	16884050	16884050	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagctggttccagttgtgcGcacaccctgtgctggtgccc	13	13	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:16884050G>A	ENST00000552788.1	+	9	2524	c.2524G>A	c.(2524-2526)Gca>Aca	p.A842T	NWD1_ENST00000523826.1_Missense_Mutation_p.A636T|NWD1_ENST00000339803.6_Missense_Mutation_p.A707T|NWD1_ENST00000379808.3_Missense_Mutation_p.A842T|NWD1_ENST00000524140.2_Missense_Mutation_p.A842T|NWD1_ENST00000549814.1_Missense_Mutation_p.A842T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	842							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						CCAGTTGTGCGCACACCCTGT	0.622																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2524-2526)Gca>Aca		NACHT and WD repeat domain containing 1							59	56	57					19																	16884050		2203	4299	6502	SO:0001583	missense	284434						ATP binding	g.chr19:16884050G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2524G>A	19.37:g.16884050G>A	ENSP00000447224:p.Ala842Thr					NWD1_ENST00000552788.1_Missense_Mutation_p.A842T|NWD1_ENST00000549814.1_Missense_Mutation_p.A842T|NWD1_ENST00000523826.1_Missense_Mutation_p.A636T|NWD1_ENST00000379808.3_Missense_Mutation_p.A842T|NWD1_ENST00000339803.6_Missense_Mutation_p.A707T	p.A842T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			11	2942	+			842					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2524G>A		.	.	.	.	.	.	.	.	.	.	-	2.846	-0.239371	0.05944	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57752	0.38;0.44;0.38;0.38;0.43;0.43	4.04	1.84	0.25277	.	0.486738	0.20217	U	0.096761	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B;B;B	0.15719	0.008;0.006;0.014	B;B;B	0.08055	0.002;0.003;0.002	T	0.17992	-1.0351	10	0.15499	T	0.54	-4.5338	6.9503	0.24542	0.1883:0.5547:0.257:0.0	.	842;842;707	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	707;842;842;842;636;842;707	ENSP00000428579:A842T;ENSP00000447548:A842T;ENSP00000369136:A842T;ENSP00000428955:A636T;ENSP00000447224:A842T;ENSP00000340159:A707T	ENSP00000340159:A707T	A	+	1	0	NWD1	16745050	0.285000	0.24296	0.001000	0.08648	0.060000	0.15804	0.447000	0.21710	0.129000	0.18514	-2.490000	0.00194	GCA		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	310	0	0	0	1	0	5	310					A	16884050	G	A	16884050	3	1	116	1	0	0	0	0	1	0	0	0	10823	1087	38	1	2145	1	NWD1	19	16884050	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	3545714	16884050	42244933	101	37444											
RYR1	6261	broad.mit.edu	37	chr19	39009888	39009888	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtgagccgtgcacggccGgagctcctgcagtcccactt	12	14	0	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39009888G>A	ENST00000359596.3	+	67	10053	c.10053G>A	c.(10051-10053)ccG>ccA	p.P3351P	RYR1_ENST00000360985.3_Silent_p.P3351P|RYR1_ENST00000355481.4_Silent_p.P3351P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3351					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)	GTGCACGGCCGGAGCTCCTGC	0.662																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10051-10053)ccG>ccA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						59	60	60					19																	39009888		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39009888G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10053G>A	19.37:g.39009888G>A						RYR1_ENST00000359596.3_Silent_p.P3351P|RYR1_ENST00000360985.3_Silent_p.P3351P	p.P3351P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		67	10184	+	all_cancers(60;7.91e-06)		3351					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.10053G>A	CCDS33011.1																																																																																				0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	523	0	0	0	1	0	5	523					A	39009888	G	A	39009888	2	1	116	1	0	0	0	0	0	0	0	1	13818	1103	39	1		1	RYR1	19	39009888	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	22125838	39009888	20119095	102	37445											
IL28B	282617	broad.mit.edu	37	chr19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agtccttcagcagaagcgacTcttcctagacagcaaaggca	9	12	2	2	rs199677823		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	62					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGAAGCGACTCTTCCTAGAC	0.617																																						ENST00000413851.2																			0											c.(184-186)gAg>gTg		interferon, lambda 3							24	32	29					19																	39735130		2201	4298	6499	SO:0001583	missense	282617							g.chr19:39735130T>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.185A>T	19.37:g.39735130T>A	ENSP00000409000:p.Glu62Val						p.E62V	NM_172139.2	NP_742151.2					2	223	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.185A>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841941	0.51057	.	.	ENSG00000197110	ENST00000413851	T	0.37058	1.22	3.01	3.01	0.34805	.	0.775606	0.11634	N	0.544460	T	0.55625	0.1932	M	0.81239	2.535	0.09310	N	1	D	0.59357	0.985	P	0.61201	0.885	T	0.41270	-0.9518	10	0.87932	D	0	-10.0409	7.6568	0.28379	0.0:0.0:0.0:1.0	.	62	Q8IZI9	IL28B_HUMAN	V	62	ENSP00000409000:E62V	ENSP00000409000:E62V	E	-	2	0	IL28B	44426970	0.007000	0.16637	0.052000	0.19188	0.307000	0.27823	1.388000	0.34442	1.388000	0.46506	0.172000	0.16884	GAG		0.617	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		4	95	0	0	0	1	0	4	95					A	39735130	T	A	39735130	3	1	116	1	0	0	0	0	1	0	0	0	7713	1551	54	5	420	5	IL28B	19	39735130	Missense_Mutation	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	725242	39735130	19393853	103	37446											
LTBP4	8425	broad.mit.edu	37	chr19	41133748	41133748	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgcctggacatgacccGcatggcctgcgttggtgagg	14	13	0	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:41133748G>A	ENST00000308370.7	+	33	4703	c.4703G>A	c.(4702-4704)cGc>cAc	p.R1568H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1531H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1501H|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1569	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACATGACCCGCATGGCCTGC	0.701																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4702-4704)cGc>cAc		latent transforming growth factor beta binding protein 4																																				SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133748G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4703G>A	19.37:g.41133748G>A	ENSP00000311905:p.Arg1568His					LTBP4_ENST00000204005.9_Missense_Mutation_p.R1531H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1501H|LTBP4_ENST00000602240.1_3'UTR	p.R1568H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		33	4703	+			1569			EGF-like 15.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4703G>A		.	.	.	.	.	.	.	.	.	.	G	9.677	1.148356	0.21288	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.87571	-2.27;-2.27;-2.27	4.33	3.29	0.37713	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.423019	0.17518	N	0.171353	T	0.79482	0.4453	.	.	.	0.35395	D	0.791061	D;P;P;D;D;P	0.57257	0.979;0.948;0.824;0.968;0.968;0.824	B;B;B;P;B;B	0.45276	0.437;0.437;0.201;0.475;0.354;0.201	T	0.77381	-0.2609	9	0.18276	T	0.48	.	6.5317	0.22330	0.0954:0.0:0.7251:0.1795	.	329;581;789;1501;1569;1531	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1531;1568;1501;329	ENSP00000204005:R1531H;ENSP00000311905:R1568H;ENSP00000380031:R1501H	ENSP00000204005:R1531H	R	+	2	0	LTBP4	45825588	0.001000	0.12720	1.000000	0.80357	0.992000	0.81027	0.195000	0.17155	1.149000	0.42402	0.655000	0.94253	CGC		0.701	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	42	0	0	0	1	0	3	42					A	41133748	G	A	41133748	3	1	116	1	0	0	0	0	1	0	0	0	9114	1087	38	1	5124	1	LTBP4	19	41133748	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	1398618	41133748	17995235	104	37447											
PSG9	5678	broad.mit.edu	37	chr19	43763169	43763169	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgacggggaggctctgaccGtttagccaccaaatgtaggt	13	10	1	2	rs2355449		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:43763169G>A	ENST00000270077.3	-	4	924	c.828C>T	c.(826-828)aaC>aaT	p.N276N	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Silent_p.N183N|PSG9_ENST00000443718.3_Silent_p.N183N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	276	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473																																						ENST00000418820.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(547-549)aaC>aaT		pregnancy specific beta-1-glycoprotein 9		A		2,4298		0,2,2148	220	231	227		828	-2.8	0	19	dbSNP_100	227	2,8562		0,2,4280	no	coding-synonymous	PSG9	NM_002784.3		0,4,6428	AA,AG,GG		0.0234,0.0465,0.0311		276/427	43763169	4,12860	2150	4282	6432	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43763169G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.828C>T	19.37:g.43763169G>A						PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron	p.N183N			Q00887	PSG9_HUMAN			3	647	-		Prostate(69;0.00682)	183			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.549C>T	CCDS12618.1																																																																																				0.473	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		8	1437	0	0	0	1	0	8	1437					A	43763169	G	A	43763169	2	1	116	1	0	0	0	0	0	0	0	1	12709	1136	40	1		1	PSG9	19	43763169	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	2629421	43763169	15365814	105	37448											
RTN2	6253	broad.mit.edu	37	chr19	45996481	45996481	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttctcggggattttgCccacttcagtagaacccgga	11	12	2	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:45996481C>T	ENST00000245923.4	-	5	1205	c.970G>A	c.(970-972)Gca>Aca	p.A324T	RTN2_ENST00000590526.1_Missense_Mutation_p.A50T|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	324					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)		GGGGATTTTGCCCACTTCAGT	0.617																																						ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(148-150)Gca>Aca		reticulon 2							74	83	80					19																	45996481		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996481C>T	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.970G>A	19.37:g.45996481C>T	ENSP00000245923:p.Ala324Thr					RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000245923.4_Missense_Mutation_p.A324T|PPM1N_ENST00000401705.1_Intron	p.A50T			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	5	1274	-		Ovarian(192;0.051)|all_neural(266;0.112)	324					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.148G>A	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690175	0.68271	.	.	ENSG00000125744	ENST00000245923	T	0.45276	0.9	4.42	2.25	0.28309	.	0.801566	0.10171	U	0.707138	T	0.21801	0.0525	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.07309	-1.0779	10	0.42905	T	0.14	-0.6328	6.0569	0.19816	0.0:0.7069:0.1911:0.1019	.	324	O75298	RTN2_HUMAN	T	324	ENSP00000245923:A324T	ENSP00000245923:A324T	A	-	1	0	RTN2	50688321	0.985000	0.35326	0.986000	0.45419	0.932000	0.56968	1.609000	0.36858	0.779000	0.33543	0.467000	0.42956	GCA		0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		8	977	0	0	0	1	0	8	977					T	45996481	C	T	45996481	3	4	116	1	0	0	0	0	1	0	0	0	13776	739	26	2	695	2	RTN2	19	45996481	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	2233312	45996481	13132502	106	37449											
MAMSTR	284358	broad.mit.edu	37	chr19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G													tctgaagttccaacttgtgtINSggggggggcgaggggctagg					rs373516785		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(484-486)ccafs		MEF2 activating motif and SAP domain containing transcriptional regulator																																				SO:0001589	frameshift_variant	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49218105_49218106insG	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs					MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs	p.P162fs			Q6ZN01	MASTR_HUMAN			6	548_549	-			162			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	ENST00000318083.6	37	c.485_486insC	CCDS46137.1																																																																																				0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		7	713						7	713	---	---	---	---	G	49218106	-	G	49218105	7	5	116	1	0	1	1	0	0	0	0	0	9250	1683	59	0	781	0	MAMSTR	19	49218105	Frame_Shift_Ins	INS	-	TCGA-US-A77J-01A-11D-A32N-08	3221624	49218105	9910878	107	37450											
ZNF611	81856	broad.mit.edu	37	chr19	53208665	53208665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgccagataggaatgacacGcaaaagccttgtcacaaacc	8	11	1	2	rs546962295		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:53208665G>A	ENST00000319783.1	-	7	1959	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Missense_Mutation_p.A548V|ZNF611_ENST00000602162.1_Missense_Mutation_p.A479V|ZNF611_ENST00000595798.1_Missense_Mutation_p.A479V|ZNF611_ENST00000540744.1_Missense_Mutation_p.A548V|ZNF611_ENST00000453741.2_Missense_Mutation_p.A479V	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(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)		GGAATGACACGCAAAAGCCTT	0.398													-|||	1	0.000199681	0.0	0.0014	5008	,	,		23540	0.0		0.0	False		,,,				2504	0.0					ENST00000543227.1																			0				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						c.(1642-1644)gCg>gTg		zinc finger protein 611							182	181	181					19																	53208665		2203	4298	6501	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208665G>A	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.1643C>T	19.37:g.53208665G>A	ENSP00000322427:p.Ala548Val					ZNF611_ENST00000595798.1_Missense_Mutation_p.A479V|ZNF611_ENST00000319783.1_Missense_Mutation_p.A548V|ZNF611_ENST00000453741.2_Missense_Mutation_p.A479V|ZNF611_ENST00000540744.1_Missense_Mutation_p.A548V|ZNF611_ENST00000602162.1_Missense_Mutation_p.A479V	p.A548V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1917	-			548					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1643C>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	7.266	0.606196	0.14002	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.17854	2.25;2.25;3.69;2.25	1.11	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	L	0.45744	1.44	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.31336	-0.9947	9	0.40728	T	0.16	.	4.28	0.10827	0.0:0.4486:0.3263:0.2251	.	548	Q8N823	ZN611_HUMAN	V	548;548;479;548	ENSP00000437616:A548V;ENSP00000439211:A548V;ENSP00000443505:A479V;ENSP00000322427:A548V	ENSP00000322427:A548V	A	-	2	0	ZNF611	57900477	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-9.157000	0.00013	-0.450000	0.07107	0.306000	0.20318	GCG		0.398	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		6	947	0	0	0	1	0	6	947					A	53208665	G	A	53208665	3	1	116	1	0	0	0	0	1	0	0	0	18090	1087	38	1	478	1	ZNF611	19	53208665	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	3990560	53208665	5920318	108	37451											
ZNF343	79175	broad.mit.edu	37	chr20	2464182	2464182	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaggagtgatttccgActaaagcctcggccacactc	10	12	0	1	rs528685225	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	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	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)	p.S475S(2)		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						GTGATTTCCGACTAAAGCCTC	0.527													A|||	5	0.000998403	0.003	0.0	5008	,	,		22125	0.0		0.0	False		,,,				2504	0.001					ENST00000278772.4																			2	Substitution - coding silent(2)	p.S475S(2)	lung(1)|kidney(1)	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						c.(1423-1425)agT>agC		zinc finger protein 343							113	95	101					20																	2464182		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464182A>G	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.1425T>C	20.37:g.2464182A>G						RP4-734P14.4_ENST00000461548.1_Intron	p.S475S	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	1912	-			475					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1425T>C	CCDS13028.1																																																																																				0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		5	346	0	0	0	1	0	5	346					G	2464182	A	G	2464182	2	3	116	1	0	0	0	0	0	0	0	1	17911	272	10	4		4	ZNF343	20	2464182	Silent	SNP	A	TCGA-US-A77J-01A-11D-A32N-08		2464182	60561338	109	37452											
TRMT6	51605	broad.mit.edu	37	chr20	5919208	5919208	+	Frame_Shift_Del	DEL	T	T	-													tcagactctgggcattttcgTtttttagctgcaggctcctc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:5919208delT	ENST00000203001.2	-	11	1597	c.1467delA	c.(1465-1467)aaafs	p.K489fs	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Frame_Shift_Del_p.K319fs	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	489					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GGCATTTTCGTTTTTTAGCTG	0.408																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(1465-1467)aafs		tRNA methyltransferase 6 homolog (S. cerevisiae)							131	134	133					20																	5919208		2203	4300	6503	SO:0001589	frameshift_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5919208delT	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1467delA	20.37:g.5919208delT	ENSP00000203001:p.Lys489fs					TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Frame_Shift_Del_p.K319fs	p.K489fs	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			11	1597	-			489					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Frame_Shift_Del	DEL	ENST00000203001.2	37	c.1467delA	CCDS13093.1																																																																																				0.408	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			7	818						7	818	---	---	---	---	-	5919208	T	-	5919208	7	5	116	1	0	1	0	1	0	0	0	0	16621	1722	60	0	30	0	TRMT6	20	5919208	Frame_Shift_Del	DEL	T	TCGA-US-A77J-01A-11D-A32N-08	3455026	5919208	57106312	110	37453											
VSX1	30813	broad.mit.edu	37	chr20	25056996	25056996	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcactttcttggtctcctgCcgggcagagctggagaggtc	14	11	2	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:25056996C>T	ENST00000376709.4	-	5	1262	c.999G>A	c.(997-999)cgG>cgA	p.R333R	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	333					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						TGGTCTCCTGCCGGGCAGAGC	0.592																																						ENST00000376709.4																			0				central_nervous_system(1)|large_intestine(3)|lung(2)	6						c.(997-999)cgG>cgA		visual system homeobox 1							63	64	63					20																	25056996		2203	4300	6503	SO:0001819	synonymous_variant	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25056996C>T	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.999G>A	20.37:g.25056996C>T						VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron	p.R333R	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN			5	1262	-			333					B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	c.999G>A	CCDS13168.1																																																																																				0.592	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			5	363	0	0	0	1	0	5	363					T	25056996	C	T	25056996	2	4	116	1	0	0	0	0	0	0	0	1	17285	726	26	2		2	VSX1	20	25056996	Silent	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	19137788	25056996	37968524	111	37454											
AURKA	116151	broad.mit.edu	37	chr20	54945248	54945248	+	IGR	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tagctgattctttgttttggCaatttgatggttttgatgaa	10	3	1	4			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:54945248C>G	ENST00000371384.3	+	0	3046				AURKA_ENST00000312783.6_Missense_Mutation_p.C393S|AURKA_ENST00000395915.3_Missense_Mutation_p.C393S|AURKA_ENST00000347343.2_Missense_Mutation_p.C393S|AURKA_ENST00000395914.1_Missense_Mutation_p.C393S|AURKA_ENST00000395911.1_Missense_Mutation_p.C393S|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395909.4_Missense_Mutation_p.C393S|AURKA_ENST00000371356.2_Missense_Mutation_p.C393S|AURKA_ENST00000395913.3_Missense_Mutation_p.C393S	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											TTTGTTTTGGCAATTTGATGG	0.453																																						ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(1177-1179)tGc>tCc		aurora kinase A							221	191	201					20																	54945248		2203	4300	6503	SO:0001628	intergenic_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54945248C>G	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"hypothetical protein LOC116151"		"chromosome 20 open reading frame 108"	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945248C>G						AURKA_ENST00000395915.3_Missense_Mutation_p.C393S|AURKA_ENST00000395913.3_Missense_Mutation_p.C393S|AURKA_ENST00000395914.1_Missense_Mutation_p.C393S|AURKA_ENST00000312783.6_Missense_Mutation_p.C393S|AURKA_ENST00000371356.2_Missense_Mutation_p.C393S|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000347343.2_Missense_Mutation_p.C393S|AURKA_ENST00000395911.1_Missense_Mutation_p.C393S	p.C393S	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		11	1743	-			393					B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.1178G>C	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	C	0.570	-0.841543	0.02692	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	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	5.25	4.31	0.51392	.	0.369213	0.29417	N	0.012203	T	0.37865	0.1019	N	0.16066	0.365	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.19095	-1.0316	10	0.06494	T	0.89	-7.0082	9.2799	0.37722	0.0:0.6498:0.275:0.0752	.	325;393;393	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	S	393	ENSP00000379245:C393S;ENSP00000379250:C393S;ENSP00000216911:C393S;ENSP00000379251:C393S;ENSP00000321591:C393S;ENSP00000360407:C393S;ENSP00000379249:C393S;ENSP00000379247:C393S	ENSP00000321591:C393S	C	-	2	0	AURKA	54378655	0.459000	0.25768	0.322000	0.25334	0.737000	0.42083	0.874000	0.28065	1.347000	0.45714	-0.156000	0.13503	TGC		0.453	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		5	590	0	0	0	1	0	5	590					G	54945248	C	G	54945248	1	3	116	0	1	0	0	0	0	0	0	0	1222	710	25	5		5	AURKA	20	54945248	IGR	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	29888252	54945248	8080272	112	37455											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047876	46047876	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccagcccagctattgccGccaggcctcctgtgtgtccc	10	19	0	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:46047876G>A	ENST00000397911.3	+	1	837	c.788G>A	c.(787-789)cGc>cAc	p.R263H	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	263						keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						AGCTATTGCCGCCAGGCCTCC	0.682																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(787-789)cGc>cAc		keratin associated protein 10-9							63	80	74					21																	46047876		2201	4289	6490	SO:0001583	missense	386676					keratin filament		g.chr21:46047876G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.788G>A	21.37:g.46047876G>A	ENSP00000381009:p.Arg263His					TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	p.R263H	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	837	+			263					A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.788G>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	9.714	1.157860	0.21454	.	.	ENSG00000221837	ENST00000397911	T	0.00745	5.75	3.33	1.19	0.21007	.	.	.	.	.	T	0.02688	0.0081	M	0.66506	2.035	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.44513	-0.9323	8	.	.	.	.	5.8193	0.18518	0.1203:0.3779:0.5018:0.0	.	263	P60411	KR109_HUMAN	H	263	ENSP00000381009:R263H	.	R	+	2	0	KRTAP10-9	44872304	0.005000	0.15991	0.069000	0.20011	0.005000	0.04900	0.556000	0.23438	0.477000	0.27464	0.563000	0.77884	CGC		0.682	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			5	699	0	0	0	1	0	5	699					A	46047876	G	A	46047876	3	1	116	1	0	0	0	0	1	0	0	0	8546	1087	38	1	790	1	KRTAP10-9	21	46047876	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08		46047876	2082019	113	37456											
PCNT	5116	broad.mit.edu	37	chr21	47754463	47754463	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	acagtcggtgaccacccaccAgaacagcgtgggatgttcac	11	13	1	2	rs527413251		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					ENST00000359568.5																			1	Substitution - coding silent(1)	p.P140P(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(418-420)ccA>ccG		pericentrin							180	120	140					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	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.420A>G	21.37:g.47754463A>G						PCNT_ENST00000480896.1_3'UTR	p.P140P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	291	0	0	0	1	0	5	291					G	47754463	A	G	47754463	2	3	116	1	0	0	0	0	0	0	0	1	11632	175	7	4		4	PCNT	21	47754463	Silent	SNP	A	TCGA-US-A77J-01A-11D-A32N-08	1706587	47754463	375432	114	37457											
HIRA	7290	broad.mit.edu	37	chr22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-													cgcagcactcttctggtccaGctgctgctgctgctgccttc							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_ENST00000541063.1_In_Frame_Del_p.Q368del|HIRA_ENST00000340170.4_In_Frame_Del_p.Q412del|HIRA_ENST00000546308.1_In_Frame_Del_p.Q368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1234-1239)ctg>c		histone cell cycle regulator																																				SO:0001651	inframe_deletion	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19373136_19373138delGCT	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.1235_1237delAGC	22.37:g.19373145_19373147delGCT	ENSP00000263208:p.Gln412del					HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del	p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			12	1491_1493	-	Colorectal(54;0.0993)		412			Poly-Gln.		Q05BU9|Q8IXN2	In_Frame_Del	DEL	ENST00000263208.5	37	c.1235_1237delAGC	CCDS13759.1																																																																																				0.581	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		8	294						8	294	---	---	---	---	-	19373138	GCT	-	19373136	7	5	116	1	0	1	0	1	0	0	0	0	7150	962	34	0	1872	0	HIRA	22	19373136	In_Frame_Del	DEL	GCT	TCGA-US-A77J-01A-11D-A32N-08		19373136	31931430	115	37458											
OFD1	8481	broad.mit.edu	37	chrX	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-													gcaaaaattaaaatggaagcAaaaaaaaagtatgaaaagga					rs312262846|rs312262847|rs312262848		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					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						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48	47	47			4.2	1	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	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.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		7	313						7	313	---	---	---	---	-	13764946	A	-	13764946	7	5	116	1	0	1	0	1	0	0	0	0	10880	117	5	0	732	0	OFD1	23	13764946	Frame_Shift_Del	DEL	A	TCGA-US-A77J-01A-11D-A32N-08		13764946	141505614	116	37459											
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-													agaagctgatgaaaaacatcAgagagagagagagtttgtaa							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		10	403						10	403	---	---	---	---	-	16850850	AG	-	16850849	7	5	116	1	0	1	0	1	0	0	0	0	16843	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-US-A77J-01A-11D-A32N-08	3085903	16850849	138419711	117	37460											
PHKA2	5256	broad.mit.edu	37	chrX	18929061	18929061	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttagaactttagtcgGcaaagtcatgggaacaactg	11	8	1	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					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)					ACTTTAGTCGGCAAAGTCATG	0.363																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2155-2157)Ccg>Tcg		phosphorylase kinase, alpha 2 (liver)							120	115	117					X																	18929061		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18929061G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2155C>T	X.37:g.18929061G>A	ENSP00000369274:p.Pro719Ser						p.P719S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			20	2820	-	Hepatocellular(33;0.183)		719					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2155C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922393	0.33908	.	.	ENSG00000044446	ENST00000379942	D	0.90563	-2.69	5.75	5.75	0.90469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.60455	1.87	0.58432	D	0.999996	B	0.24576	0.106	B	0.36378	0.223	D	0.86944	0.2081	10	0.26408	T	0.33	-10.3521	17.078	0.86591	0.0:0.0:1.0:0.0	.	719	P46019	KPB2_HUMAN	S	719	ENSP00000369274:P719S	ENSP00000369274:P719S	P	-	1	0	PHKA2	18838982	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	6.010000	0.70753	2.412000	0.81896	0.600000	0.82982	CCG		0.363	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	620	0	0	0	1	0	6	620					A	18929061	G	A	18929061	3	1	116	1	0	0	0	0	1	0	0	0	11886	1203	42	2	1608	2	PHKA2	23	18929061	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	2078212	18929061	136341499	118	37461											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			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)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	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.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		9	83						9	83	---	---	---	---	-	50350713	TCC	-	50350711	7	5	116	1	0	1	0	1	0	0	0	0	14346	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-US-A77J-01A-11D-A32N-08	31421650	50350711	104919849	119	37462											
PFKFB1	5207	broad.mit.edu	37	chrX	54978521	54978521	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	atgtagcgtgtgcccacgtcGaagatcttgatgtaggacag	13	8	1	2			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:54978521G>A	ENST00000375006.3	-	8	733	c.663C>T	c.(661-663)ttC>ttT	p.F221F	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.F156F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	221	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGCCCACGTCGAAGATCTTGA	0.567																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(661-663)ttC>ttT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							125	83	97					X																	54978521		2203	4300	6503	SO:0001819	synonymous_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54978521G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.663C>T	X.37:g.54978521G>A						PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.F156F	p.F221F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			8	733	-			221			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	c.663C>T	CCDS14364.1																																																																																				0.567	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			4	205	0	0	0	1	0	4	205					A	54978521	G	A	54978521	2	1	116	1	0	0	0	0	0	0	0	1	11802	1049	37	1		1	PFKFB1	23	54978521	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	4627810	54978521	100292039	120	37463											
FAM104B	90736	broad.mit.edu	37	chrX	55172537	55172537	+	Intron	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttggagcttgccctcGctgctgcaggctgttgaagt	13	10	1	1	rs1047054	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:55172537G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.R111*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438																																						ENST00000425133.2																			5	Substitution - Nonsense(5)	p.R111*(5)	endometrium(3)|kidney(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(331-333)Cga>Tga		family with sequence similarity 104, member B							40	26	30					X																	55172537		692	1590	2282	SO:0001627	intron_variant	90736							g.chrX:55172537G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+76C>T	X.37:g.55172537G>A						FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR	p.R111*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	369	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	c.331C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937798	0.52972	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.59	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.26565	N	0.973663	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5036	0.11876	0.0:0.0:0.6198:0.3802	rs1047054;rs3175708;rs5003324	.	.	.	X	111;107;109	.	ENSP00000397188:R111X	R	-	1	2	FAM104B	55189262	0.997000	0.39634	0.180000	0.23079	0.415000	0.31203	1.026000	0.30103	0.126000	0.18424	0.429000	0.28392	CGA		0.438	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		5	216	0	0	0	1	0	5	216					A	55172537	G	A	55172537	1	1	116	0	1	0	0	0	0	0	0	0	5407	1095	38	1		1	FAM104B	23	55172537	Intron	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	194016	55172537	100098023	121	37464											
NOX1	27035	broad.mit.edu	37	chrX	100118222	100118222	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaattgctttctcagtgtgCggctgcaaaactacaaatgt	8	10	1	0	rs192653247		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:100118222C>T	ENST00000372966.3	-	4	468	c.263G>A	c.(262-264)cGc>cAc	p.R88H	NOX1_ENST00000372964.1_Missense_Mutation_p.R88H|NOX1_ENST00000217885.5_Missense_Mutation_p.R88H|NOX1_ENST00000372960.4_Missense_Mutation_p.R51H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	88	Ferric oxidoreductase.				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)	p.R88H(2)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCTCAGTGTGCGGCTGCAAAA	0.433													C|||	3	0.000794702	0.0	0.0	3775	,	,		15206	0.003		0.0	False		,,,				2504	0.0					ENST00000372966.3																			2	Substitution - Missense(2)	p.R88H(2)	lung(2)	cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(262-264)cGc>cAc		NADPH oxidase 1							217	185	196					X																	100118222		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100118222C>T	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.263G>A	X.37:g.100118222C>T	ENSP00000362057:p.Arg88His					NOX1_ENST00000372964.1_Missense_Mutation_p.R88H|NOX1_ENST00000372960.4_Missense_Mutation_p.R51H|NOX1_ENST00000217885.5_Missense_Mutation_p.R88H	p.R88H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			4	468	-			88			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.263G>A	CCDS14474.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.42	1.933162	0.34096	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885;ENST00000372960	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.27	2.49	0.30216	Flavoprotein transmembrane component (1);	0.440664	0.16333	N	0.219037	D	0.88559	0.6469	M	0.69463	2.115	0.18873	N	0.999988	B;B;B	0.29909	0.096;0.261;0.148	B;B;B	0.30179	0.024;0.108;0.112	T	0.74352	-0.3693	10	0.16420	T	0.52	1.9832	8.5839	0.33646	0.0:0.802:0.0:0.198	.	51;88;88	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	H	88;88;88;88;51	ENSP00000362057:R88H;ENSP00000362055:R88H;ENSP00000217885:R88H;ENSP00000362051:R51H	ENSP00000217885:R88H	R	-	2	0	NOX1	100004878	0.002000	0.14202	0.000000	0.03702	0.990000	0.78478	1.752000	0.38349	0.399000	0.25367	0.600000	0.82982	CGC		0.433	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		5	683	0	0	0	1	0	5	683					T	100118222	C	T	100118222	3	4	116	1	0	0	0	0	1	0	0	0	10598	768	27	1	1471	1	NOX1	23	100118222	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	44945685	100118222	55152338	122	37465											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	2217	0	0	0	1	0	12	2217					A	140994960	G	A	140994960	2	1	116	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	40876738	140994960	14275600	123	37466											
MAGEC1	9947	broad.mit.edu	37	chrX	140995016	140995016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactccatgtctcctcTctactttcctcagagtcctc	7	15	3	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										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)					ATGTCTCCTCTCTACTTTCCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193	205	201					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	1803	0	0	0	1	0	12	1803					A	140995016	T	A	140995016	3	1	116	1	0	0	0	0	1	0	0	0	9221	1551	54	5	1832	5	MAGEC1	23	140995016	Missense_Mutation	SNP	T	TCGA-US-A77J-01A-11D-A32N-08	56	140995016	14275544	124	37467											
GPR50	9248	broad.mit.edu	37	chrX	150348992	150348992	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccatcttccatgctatgCggcaccctatcatattcttc	6	14	3	0	rs376836037		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:150348992C>T	ENST00000218316.3	+	2	1006	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	313					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)					CCATGCTATGCGGCACCCTAT	0.542																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(937-939)Cgg>Tgg		G protein-coupled receptor 50		C	TRP/ARG	0,3509		0,0,1469,571	117	114	115		937	2.4	0.8	X		115	1,6530		0,1,2363,1803	no	missense	GPR50	NM_004224.3	101	0,1,3832,2374	TT,TC,CC,C		0.0153,0.0,0.01	benign	313/618	150348992	1,10039	2040	4167	6207	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348992C>T	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.937C>T	X.37:g.150348992C>T	ENSP00000218316:p.Arg313Trp						p.R313W	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		313					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.937C>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663817	0.29515	0.0	1.53E-4	ENSG00000102195	ENST00000218316	T	0.38560	1.13	4.63	2.44	0.29823	.	0.225469	0.43919	D	0.000506	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	P	0.38335	0.627	B	0.23852	0.049	T	0.09862	-1.0655	10	0.31617	T	0.26	-8.6056	5.3646	0.16107	0.3293:0.4826:0.1881:0.0	.	313	Q13585	MTR1L_HUMAN	W	313	ENSP00000218316:R313W	ENSP00000218316:R313W	R	+	1	2	GPR50	150099650	0.998000	0.40836	0.849000	0.33467	0.910000	0.53928	0.376000	0.20535	1.903000	0.55091	0.529000	0.55759	CGG		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		8	960	0	0	0	1	0	8	960					T	150348992	C	T	150348992	3	4	116	1	0	0	0	0	1	0	0	0	6726	759	27	1	943	1	GPR50	23	150348992	Missense_Mutation	SNP	C	TCGA-US-A77J-01A-11D-A32N-08	9353976	150348992	4921568	125	37468											
L1CAM	3897	broad.mit.edu	37	chrX	153134383	153134383	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtacgtctgattgtccGcagtcaggatcttggctggc	12	11	3	1			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	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)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128	97	107					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	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)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		5	474	0	0	0	1	0	5	474					A	153134383	G	A	153134383	3	1	116	1	0	0	0	0	1	0	0	0	8619	1087	38	1	2553	1	L1CAM	23	153134383	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	2785391	153134383	2136177	126	37469											
HCFC1	3054	broad.mit.edu	37	chrX	153216342	153216342	+	Frame_Shift_Del	DEL	C	C	-													gctgagatttcgctgaagggCccccggccacaggcattgat							TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:153216342delC	ENST00000310441.7	-	23	6591	c.5625delG	c.(5623-5625)gggfs	p.G1875fs	HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs|HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1875	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTGAAGGGCCCCCGGCCAC	0.567																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5623-5625)ggfs		host cell factor C1 (VP16-accessory protein)							126	136	133					X																	153216342		1957	4129	6086	SO:0001589	frameshift_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216342delC		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5625delG	X.37:g.153216342delC	ENSP00000309555:p.Gly1875fs					HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs|HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs	p.G1875fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6591	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1875					Q6P4G5	Frame_Shift_Del	DEL	ENST00000310441.7	37	c.5625delG	CCDS44020.1																																																																																				0.567	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		8	1773						8	1773	---	---	---	---	-	153216342	C	-	153216342	7	5	116	1	0	1	0	1	0	0	0	0	7021	726	26	0	498	0	HCFC1	23	153216342	Frame_Shift_Del	DEL	C	TCGA-US-A77J-01A-11D-A32N-08	81959	153216342	2054218	127	37470											
HCFC1	3054	broad.mit.edu	37	chrX	153222965	153222965	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcaggattgttcccGctggcaggggccctttggtc	13	13	1	0			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:153222965G>A	ENST00000310441.7	-	13	3119	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A649V|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.A718V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	718	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATTGTTCCCGCTGGCAGGGG	0.632																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2152-2154)gCg>gTg		host cell factor C1 (VP16-accessory protein)							56	57	57					X																	153222965		2042	4167	6209	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222965G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2153C>T	X.37:g.153222965G>A	ENSP00000309555:p.Ala718Val					HCFC1_ENST00000369984.4_Missense_Mutation_p.A718V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A649V	p.A718V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			13	3119	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		718			Interaction with SIN3A.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2153C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826205	0.90955	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03441	3.97;3.94;3.93	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	L	0.27053	0.805	0.54753	D	0.999985	D	0.61080	0.989	P	0.47573	0.55	T	0.40572	-0.9556	10	0.59425	D	0.04	.	16.9997	0.86378	0.0:0.0:1.0:0.0	.	718	P51610	HCFC1_HUMAN	V	718;718;649	ENSP00000309555:A718V;ENSP00000359001:A718V;ENSP00000346174:A649V	ENSP00000309555:A718V	A	-	2	0	HCFC1	152876159	1.000000	0.71417	0.913000	0.36048	0.681000	0.39784	9.207000	0.95064	2.277000	0.76020	0.600000	0.82982	GCG		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		5	346	0	0	0	1	0	5	346					A	153222965	G	A	153222965	3	1	116	1	0	0	0	0	1	0	0	0	7021	1087	38	1	4010	1	HCFC1	23	153222965	Missense_Mutation	SNP	G	TCGA-US-A77J-01A-11D-A32N-08	6623	153222965	2047595	128	37471											
SLC2A7	155184	broad.mit.edu	37	chr1	9067394	9067394	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaatggaatgtcccgcgatGtaggcaaagacacagatgat	11	9	0	3			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:9067394G>A	ENST00000400906.1	-	10	1166	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	389					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)		GTCCCGCGATGTAGGCAAAGA	0.642																																						ENST00000400906.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24						c.(1165-1167)taC>taT		solute carrier family 2 (facilitated glucose transporter), member 7							155	118	130					1																	9067394		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9067394G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1167C>T	1.37:g.9067394G>A							p.Y389Y	NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	10	1166	-	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)	389					A2A333	Silent	SNP	ENST00000400906.1	37	c.1167C>T	CCDS98.2																																																																																				0.642	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420		7	249	0	0	0	1	0	7	249					A	9067394	G	A	9067394	2	1	117	1	0	0	0	0	0	0	0	1	14600	1372	48	2		2	SLC2A7	1	9067394	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		9067394	240183227	1	37472											
SPEN	23013	broad.mit.edu	37	chr1	16259754	16259754	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacaacccgatcacgccGcaagcgaaacacaaacaaga	7	13	1	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:16259754G>A	ENST00000375759.3	+	11	7223	c.7019G>A	c.(7018-7020)cGc>cAc	p.R2340H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2340	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R2340H(1)		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)		CGATCACGCCGCAAGCGAAAC	0.512																																						ENST00000375759.3																			1	Substitution - Missense(1)	p.R2340H(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(7018-7020)cGc>cAc		spen family transcriptional repressor							86	97	93					1																	16259754		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259754G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7019G>A	1.37:g.16259754G>A	ENSP00000364912:p.Arg2340His						p.R2340H	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	7223	+		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)	2340			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.7019G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645247	0.29246	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.84	4.84	0.62591	.	.	.	.	.	T	0.34687	0.0906	L	0.58101	1.795	0.43603	D	0.995968	D	0.71674	0.998	D	0.72075	0.976	T	0.05007	-1.0912	9	0.51188	T	0.08	-10.6068	17.9293	0.88992	0.0:0.0:1.0:0.0	.	2340	Q96T58	MINT_HUMAN	H	2340	ENSP00000364912:R2340H	ENSP00000364912:R2340H	R	+	2	0	SPEN	16132341	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	5.201000	0.65163	2.222000	0.72286	0.462000	0.41574	CGC		0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		5	259	0	0	0	1	0	5	259					A	16259754	G	A	16259754	3	1	117	1	0	0	0	0	1	0	0	0	15090	1087	38	1	7061	1	SPEN	1	16259754	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	7192360	16259754	232990867	2	37473											
SLC25A24	29957	broad.mit.edu	37	chr1	108700183	108700183	+	Frame_Shift_Del	DEL	T	T	-													tgcctccaccattgtccggaTtttttttcgtcttccgtgaa							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:108700183delT	ENST00000565488.1	-	5	789	c.570delA	c.(568-570)aaafs	p.K190fs	SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	190					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)	p.K171fs*29(1)|p.K190fs*29(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ATTGTCCGGATTTTTTTTCGT	0.453																																						ENST00000565488.1																			2	Deletion - Frameshift(2)	p.K171fs*29(1)|p.K190fs*29(1)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(568-570)aafs		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24			,	1,4265		0,1,2132	106	100	102		,	2.6	0	1		103	0,8254		0,0,4127	no	frameshift,frameshift	SLC25A24	NM_213651.1,NM_013386.3	,	0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080	,	,	108700183	1,12519	2203	4300	6503	SO:0001589	frameshift_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108700183delT	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"Solute carriers", "EF-hand domain containing"	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.570delA	1.37:g.108700183delT	ENSP00000457733:p.Lys190fs					SLC25A24_ENST00000370041.4_Frame_Shift_Del_p.K171fs	p.K190fs	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	5	789	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	190					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Frame_Shift_Del	DEL	ENST00000565488.1	37	c.570delA	CCDS41361.1																																																																																				0.453	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		7	455						7	455	---	---	---	---	-	108700183	T	-	108700183	7	5	117	1	0	1	0	1	0	0	0	0	14537	1490	52	0	887	0	SLC25A24	1	108700183	Frame_Shift_Del	DEL	T	TCGA-XD-AAUG-01A-61D-A40W-08	92440429	108700183	140550438	3	37474											
TCHH	7062	broad.mit.edu	37	chr1	152082606	152082606	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagcagctgctcttcTtcctgctgcagctcgtcttt	7	15	5	0	rs201965717		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	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)			GCTGCTCTTCTTCCTGCTGCA	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3085-3087)gaA>gaG		trichohyalin							111	113	112					1																	152082606		1978	4144	6122	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082606T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3087A>G	1.37:g.152082606T>C							p.E1029E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1029			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3087A>G	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	777	0	0	0	1	0	8	777					C	152082606	T	C	152082606	2	2	117	1	0	0	0	0	0	0	0	1	15752	1606	56	4		4	TCHH	1	152082606	Silent	SNP	T	TCGA-XD-AAUG-01A-61D-A40W-08	43382423	152082606	97168015	4	37475											
SPTA1	6708	broad.mit.edu	37	chr1	158636124	158636124	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctgacgagcagccacagcCgactccaggaggccgtgttt	12	14	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:158636124C>T	ENST00000368147.4	-	16	2382	c.2202G>A	c.(2200-2202)tcG>tcA	p.S734S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	734					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)					CAGCCACAGCCGACTCCAGGA	0.502																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2200-2202)tcG>tcA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							38	41	40					1																	158636124		1964	4160	6124	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158636124C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2202G>A	1.37:g.158636124C>T						SPTA1_ENST00000368147.3_Silent_p.S734S	p.S734S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			16	2382	-	all_hematologic(112;0.0378)		734					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.2202G>A	CCDS41423.1																																																																																				0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		8	171	0	0	0	1	0	8	171					T	158636124	C	T	158636124	2	4	117	1	0	0	0	0	0	0	0	1	15168	639	23	1		1	SPTA1	1	158636124	Silent	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	6553518	158636124	90614497	5	37476											
ATP1A4	480	broad.mit.edu	37	chr1	160134114	160134114	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtgtcactttttttgCgctctcacttctcttgggct	8	12	3	0	rs139847892	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr1:160134114C>T	ENST00000368081.4	+	7	1418	c.947C>T	c.(946-948)gCg>gTg	p.A316V		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	316					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.A316V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTTTTTTTGCGCTCTCACTT	0.527																																						ENST00000368081.4																			1	Substitution - Missense(1)	p.A316V(1)	urinary_tract(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(946-948)gCg>gTg		ATPase, Na+/K+ transporting, alpha 4 polypeptide		T	VAL/ALA	0,4406		0,0,2203	350	290	311		947	-9.1	0	1	dbSNP_134	311	14,8586	818.6+/-406.8	0,14,4286	yes	missense	ATP1A4	NM_144699.3	64	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	benign	316/1030	160134114	14,12992	2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134114C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.947C>T	1.37:g.160134114C>T	ENSP00000357060:p.Ala316Val						p.A316V	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1418	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		316					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.947C>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	5.576	0.291170	0.10567	0.0	0.001628	ENSG00000132681	ENST00000368081	D	0.87729	-2.29	4.54	-9.08	0.00720	ATPase, P-type, ATPase-associated domain (1);	3.311300	0.01249	N	0.008837	T	0.42653	0.1212	N	0.01686	-0.76	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56607	-0.7951	10	0.19147	T	0.46	.	13.6434	0.62265	0.0:0.332:0.1095:0.5585	.	316	Q13733	AT1A4_HUMAN	V	316	ENSP00000357060:A316V	ENSP00000357060:A316V	A	+	2	0	ATP1A4	158400738	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.038000	0.12144	-3.839000	0.00100	-2.706000	0.00135	GCG		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		6	707	0	0	0	1	0	6	707					T	160134114	C	T	160134114	3	4	117	1	0	0	0	0	1	0	0	0	1132	768	27	1	973	1	ATP1A4	1	160134114	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	1497990	160134114	89116507	6	37477											
TSPYL6	388951	broad.mit.edu	37	chr2	54482718	54482719	+	Frame_Shift_Ins	INS	-	-	C													ttcaggggcccgggcccgggINScccaggccctgcctccctgt							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:54482718_54482719insC	ENST00000317802.7	-	1	690_691	c.570_571insG	c.(568-573)gggcccfs	p.P191fs	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	191					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CCGGGCCCGGGCCCAGGCCCTG	0.614																																						ENST00000317802.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(568-573)ggccggfs		TSPY-like 6																																				SO:0001589	frameshift_variant	388951				nucleosome assembly	nucleus		g.chr2:54482718_54482719insC	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.571dupG	2.37:g.54482721_54482721dupC	ENSP00000417919:p.Pro191fs					ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	p.R191fs	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN			1	690_691	-			191					Q6NUJ3	Frame_Shift_Ins	INS	ENST00000317802.7	37	c.570_571insG	CCDS42682.1																																																																																				0.614	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		10	208						10	208	---	---	---	---	C	54482719	-	C	54482718	7	5	117	1	0	1	1	0	0	0	0	0	16716	1203	42	0	665	0	TSPYL6	2	54482718	Frame_Shift_Ins	INS	-	TCGA-XD-AAUG-01A-61D-A40W-08		54482718	188716655	7	37478											
TBC1D8	11138	broad.mit.edu	37	chr2	101666884	101666884	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtgatctggctcggcTcctgcagatcggggtcgagg	16	10	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101666884T>A	ENST00000376840.4	-	5	805	c.806A>T	c.(805-807)gAg>gTg	p.E269V	TBC1D8_ENST00000409318.1_Missense_Mutation_p.E284V			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	269					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CTGGCTCGGCTCCTGCAGATC	0.562																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(850-852)gAg>gTg		TBC1 domain family, member 8 (with GRAM domain)							44	47	46					2																	101666884		1996	4168	6164	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101666884T>A	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.806A>T	2.37:g.101666884T>A	ENSP00000366036:p.Glu269Val					TBC1D8_ENST00000376840.4_Missense_Mutation_p.E269V	p.E284V	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			5	981	-			269					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.851A>T	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165069	0.78339	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03441	3.93;3.95	5.37	5.37	0.77165	.	0.170745	0.41097	D	0.000946	T	0.04182	0.0116	N	0.14661	0.345	0.46849	D	0.999228	P;P	0.40794	0.59;0.729	B;B	0.42771	0.157;0.397	T	0.55573	-0.8120	10	0.56958	D	0.05	-29.5755	15.3821	0.74664	0.0:0.0:0.0:1.0	.	284;269	B7Z6L4;O95759	.;TBCD8_HUMAN	V	269;284	ENSP00000366036:E269V;ENSP00000386856:E284V	ENSP00000366036:E269V	E	-	2	0	TBC1D8	101033316	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	5.995000	0.70631	2.032000	0.59987	0.459000	0.35465	GAG		0.562	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		14	186	0	0	0	1	0	14	186					A	101666884	T	A	101666884	3	1	117	1	0	0	0	0	1	0	0	0	15677	1551	54	5	2680	5	TBC1D8	2	101666884	Missense_Mutation	SNP	T	TCGA-XD-AAUG-01A-61D-A40W-08	47184166	101666884	141532489	8	37479											
RNF149	284996	broad.mit.edu	37	chr2	101898332	101898332	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accgctcacctagcaatgccGtattttctcctgcatctcct	5	16	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:101898332G>A	ENST00000295317.3	-	6	1255	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	383					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						TAGCAATGCCGTATTTTCTCC	0.488																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1147-1149)aCg>aTg		ring finger protein 149							151	135	141					2																	101898332		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101898332G>A	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.1148C>T	2.37:g.101898332G>A	ENSP00000295317:p.Thr383Met						p.T383M	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			6	1255	-			383					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1148C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068139	0.36470	.	.	ENSG00000163162	ENST00000295317	T	0.09723	2.95	5.63	4.75	0.60458	.	0.656945	0.14405	N	0.321662	T	0.18341	0.0440	L	0.59436	1.845	0.46823	D	0.999213	D	0.63046	0.992	P	0.48227	0.571	T	0.01670	-1.1299	10	0.38643	T	0.18	.	14.0098	0.64488	0.073:0.0:0.927:0.0	.	383	Q8NC42	RN149_HUMAN	M	383	ENSP00000295317:T383M	ENSP00000295317:T383M	T	-	2	0	RNF149	101264764	1.000000	0.71417	0.078000	0.20375	0.013000	0.08279	3.295000	0.51794	1.376000	0.46267	0.563000	0.77884	ACG		0.488	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		5	411	0	0	0	1	0	5	411					A	101898332	G	A	101898332	3	1	117	1	0	0	0	0	1	0	0	0	13500	1145	40	1	62	1	RNF149	2	101898332	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	231448	101898332	141301041	9	37480											
POTEF	728378	broad.mit.edu	37	chr2	130877733	130877733	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatcgtagtctccccaaGcgcccaccttgctcttgctg	8	16	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:130877733G>A	ENST00000409914.2	-	3	755	c.356C>T	c.(355-357)gCt>gTt	p.A119V	POTEF_ENST00000360967.5_Missense_Mutation_p.A119V|POTEF_ENST00000361163.4_Missense_Mutation_p.A119V|POTEF_ENST00000357462.5_Missense_Mutation_p.A119V	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	119					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCTCCCCAAGCGCCCACCTT	0.587																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(355-357)gCt>gTt		POTE ankyrin domain family, member F							63	83	76					2																	130877733		2202	4298	6500	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877733G>A	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.356C>T	2.37:g.130877733G>A	ENSP00000386786:p.Ala119Val					POTEF_ENST00000361163.4_Missense_Mutation_p.A119V|POTEF_ENST00000360967.5_Missense_Mutation_p.A119V|POTEF_ENST00000409914.2_Missense_Mutation_p.A119V	p.A119V			A5A3E0	POTEF_HUMAN			1	449	-			119					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.356C>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.231	0.410709	0.11812	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.77098	-1.07;-1.07;1.76;1.68	0.409	-0.759	0.11045	.	.	.	.	.	T	0.65770	0.2723	L	0.43152	1.355	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.55347	-0.8155	8	0.87932	D	0	.	.	.	.	.	119	A5A3E0	POTEF_HUMAN	V	119	ENSP00000350052:A119V;ENSP00000386786:A119V;ENSP00000354232:A119V;ENSP00000355012:A119V	ENSP00000350052:A119V	A	-	2	0	POTEF	130594203	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	-0.039000	0.12124	-0.439000	0.07222	0.173000	0.16961	GCT		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		31	580	0	0	0	1	0	31	580					A	130877733	G	A	130877733	3	1	117	1	0	0	0	0	1	0	0	0	12307	971	34	2	2931	2	POTEF	2	130877733	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	28979401	130877733	112321640	10	37481											
OSBPL6	114880	broad.mit.edu	37	chr2	179197717	179197717	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttcacatatttccttcaacGtccacagctgaatcctcacc	3	15	3	1	rs201891138		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179197717G>A	ENST00000190611.4	+	8	982	c.606G>A	c.(604-606)acG>acA	p.T202T	OSBPL6_ENST00000409045.3_Silent_p.T202T|OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000315022.2_Silent_p.T181T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000357080.4_Silent_p.T202T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	202					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)			TTCCTTCAACGTCCACAGCTG	0.393													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21723	0.0		0.0	False		,,,				2504	0.0					ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(604-606)acG>acA		oxysterol binding protein-like 6							105	92	97					2																	179197717		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179197717G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.606G>A	2.37:g.179197717G>A						OSBPL6_ENST00000409631.1_Silent_p.T202T|OSBPL6_ENST00000357080.4_Silent_p.T202T|OSBPL6_ENST00000392505.2_Silent_p.T202T|OSBPL6_ENST00000409045.3_Silent_p.T202T|OSBPL6_ENST00000359685.3_Silent_p.T202T|OSBPL6_ENST00000315022.2_Silent_p.T181T	p.T202T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		8	982	+			202					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.606G>A	CCDS2277.1																																																																																				0.393	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		5	322	0	0	0	1	0	5	322					A	179197717	G	A	179197717	2	1	117	1	0	0	0	0	0	0	0	1	11323	1132	40	1		1	OSBPL6	2	179197717	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	48319984	179197717	64001656	11	37482											
TTN	7273	broad.mit.edu	37	chr2	179428962	179428962	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcaggtataggtttgccacgGatgtcggcttcaagaacaaa	11	8	2	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:179428962G>A	ENST00000591111.1	-	276	77198	c.76974C>T	c.(76972-76974)atC>atT	p.I25658I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.I18359I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.I18234I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.I27299I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.I24731I			Q8WZ42	TITIN_HUMAN	titin	25658	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)			GTTTGCCACGGATGTCGGCTT	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(81895-81897)atC>atT		titin							156	156	156					2																	179428962		1902	4117	6019	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428962G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76974C>T	2.37:g.179428962G>A						TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.I18426I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.I24731I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.I18359I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.I25658I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.I18234I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.I27299I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	82121	-			25658					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.81897C>T																																																																																					0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	671	0	0	0	1	0	7	671					A	179428962	G	A	179428962	2	1	117	1	0	0	0	0	0	0	0	1	16789	1164	41	2		2	TTN	2	179428962	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	231245	179428962	63770411	12	37483											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					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)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	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.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000496298.1_5'UTR|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		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)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		8	227						8	227	---	---	---	---	T	234394237	-	T	234394236	7	5	117	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-XD-AAUG-01A-61D-A40W-08	54965274	234394236	8805137	13	37484											
TRNT1	51095	broad.mit.edu	37	chr3	3189309	3189309	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaccttggcttatttatAgttaaaaataggaaagattt	6	3	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:3189309A>C	ENST00000251607.6	+	7	1080	c.978A>C	c.(976-978)atA>atC	p.I326I	TRNT1_ENST00000280591.6_Silent_p.I306I	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	326					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)		GCTTATTTATAGTTAAAAATA	0.328																																						ENST00000251607.6																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12						c.(976-978)atA>atC		tRNA nucleotidyl transferase, CCA-adding, 1							53	60	58					3																	3189309		2184	4293	6477	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3189309A>C	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.978A>C	3.37:g.3189309A>C						TRNT1_ENST00000280591.6_Silent_p.I306I	p.I326I	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	7	1080	+			326					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.978A>C	CCDS2561.2																																																																																				0.328	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1			7	315	0	0	0	1	0	7	315					C	3189309	A	C	3189309	2	2	117	1	0	0	0	0	0	0	0	1	16626	410	15	4		4	TRNT1	3	3189309	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08		3189309	194833121	14	37485											
FANCD2	2177	broad.mit.edu	37	chr3	10108928	10108928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgccaggaaacatcacctgaGatgaaggggaaggtgctcac	13	9	2	2	rs34414402		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:10108928G>T	ENST00000419585.1	+	26	2582	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D	FANCD2_ENST00000287647.3_Missense_Mutation_p.E807D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	807					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)		CATCACCTGAGATGAAGGGGA	0.373			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2419-2421)gaG>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							89	77	81					3																	10108928		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10108928G>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2421G>T	3.37:g.10108928G>T	ENSP00000398754:p.Glu807Asp					FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000419585.1_Missense_Mutation_p.E807D	p.E807D	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	26	2514	+			807					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2421G>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680121	0.47886	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.44	4.51	0.55191	.	0.095731	0.64402	D	0.000001	T	0.40473	0.1118	L	0.29908	0.895	0.35906	D	0.830736	P;P	0.34587	0.458;0.458	B;B	0.33750	0.169;0.169	T	0.45190	-0.9278	10	0.21540	T	0.41	.	8.4757	0.33012	0.0:0.1664:0.6614:0.1722	.	807;807	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	D	807	ENSP00000287647:E807D;ENSP00000373318:E807D;ENSP00000373317:E807D;ENSP00000398754:E807D	ENSP00000287647:E807D	E	+	3	2	FANCD2	10083928	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.991000	0.49409	2.571000	0.86741	0.585000	0.79938	GAG		0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			5	142	1	0	5.18039e-06	1	5.65465e-06	5	142					T	10108928	G	T	10108928	3	4	117	1	0	0	0	0	1	0	0	0	5690	933	33	3	2519	3	FANCD2	3	10108928	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	6919619	10108928	187913502	15	37486											
PRKCD	5580	broad.mit.edu	37	chr3	53223943	53223943	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaccggaaacatcaaaatcCaccccttcttcaagaccata	4	14	3	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:53223943C>A	ENST00000394729.2	+	17	2126	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	600	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)	CATCAAAATCCACCCCTTCTT	0.547																																						ENST00000394729.2																			0				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						c.(1798-1800)Cac>Aac		protein kinase C, delta							221	210	214					3																	53223943		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53223943C>A		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.1798C>A	3.37:g.53223943C>A	ENSP00000378217:p.His600Asn					PRKCD_ENST00000330452.3_Missense_Mutation_p.H600N	p.H600N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		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)	17	2126	+		Ovarian(412;0.0728)	600			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1798C>A	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683651	0.88639	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.58358	0.34;0.34	5.27	5.27	0.74061	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	0.78355	0.4270	M	0.93016	3.37	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	D	0.83726	0.0195	10	0.87932	D	0	.	17.8158	0.88634	0.0:1.0:0.0:0.0	.	600	Q05655	KPCD_HUMAN	N	600	ENSP00000378217:H600N;ENSP00000331602:H600N	ENSP00000331602:H600N	H	+	1	0	PRKCD	53198983	1.000000	0.71417	0.972000	0.41901	0.933000	0.57130	7.651000	0.83577	2.746000	0.94184	0.561000	0.74099	CAC		0.547	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			40	1105	1	0	2.68265e-12	1	3.10307e-12	40	1105					A	53223943	C	A	53223943	3	1	117	1	0	0	0	0	1	0	0	0	12556	594	21	3	1860	3	PRKCD	3	53223943	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	43115015	53223943	144798487	16	37487											
MCCC1	56922	broad.mit.edu	37	chr3	182733294	182733294	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	aggagtgtgtctgttggcctGagcaccttctctgtagaaca	12	9	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr3:182733294G>A	ENST00000265594.4	-	19	2256	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	MCCC1-AS1_ENST00000471731.2_RNA|MCCC1_ENST00000492597.1_Nonsense_Mutation_p.Q595*	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	704	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGTTGGCCTGAGCACCTTCT	0.443																																						ENST00000492597.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40						c.(1783-1785)Cag>Tag		methylcrotonoyl-CoA carboxylase 1 (alpha)	Biotin(DB00121)						332	310	317					3																	182733294		2203	4300	6503	SO:0001587	stop_gained	56922				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity	g.chr3:182733294G>A	AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.2110C>T	3.37:g.182733294G>A	ENSP00000265594:p.Gln704*					MCCC1_ENST00000265594.4_Nonsense_Mutation_p.Q704*	p.Q595*			Q96RQ3	MCCA_HUMAN	all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		18	2485	-	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		704					Q59ES4|Q9H959|Q9NS97	Nonsense_Mutation	SNP	ENST00000265594.4	37	c.1783C>T	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	39	7.879796	0.98539	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.9868	0.89158	0.0:0.0:1.0:0.0	.	.	.	.	X	704;595;554	.	ENSP00000265594:Q704X	Q	-	1	0	MCCC1	184215988	1.000000	0.71417	0.954000	0.39281	0.976000	0.68499	5.982000	0.70532	2.530000	0.85305	0.511000	0.50034	CAG		0.443	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166		51	633	0	0	0	1	0	51	633					A	182733294	G	A	182733294	4	1	117	1	0	0	0	0	0	1	0	0	9415	1299	45	2	71	2	MCCC1	3	182733294	Nonsense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	129509351	182733294	15289136	17	37488											
ZNF141	7700	broad.mit.edu	37	chr4	367563	367563	+	Missense_Mutation	SNP	C	C	G													tcaacataagaaaattcataCtgtagataaaccctacaaat							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:367563C>G	ENST00000240499.7	+	4	1486	c.1337C>G	c.(1336-1338)aCt>aGt	p.T446S	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	446					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAAATTCATACTGTAGATAAA	0.323																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1336-1338)aCt>aGt		zinc finger protein 141							74	82	79					4																	367563		2203	4300	6503	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367563C>G	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1337C>G	4.37:g.367563C>G	ENSP00000240499:p.Thr446Ser					ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	p.T446S	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1486	+			446					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1337C>G	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733812	0.30684	.	.	ENSG00000131127	ENST00000240499	T	0.24151	1.87	1.24	0.227	0.15359	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	N	0.16166	0.38	0.09310	N	1	B	0.18013	0.025	B	0.19148	0.024	T	0.33394	-0.9870	8	.	.	.	.	5.1007	0.14759	0.0:0.7434:0.0:0.2566	.	446	Q15928	ZN141_HUMAN	S	446	ENSP00000240499:T446S	.	T	+	2	0	ZNF141	357563	0.005000	0.15991	0.275000	0.24674	0.925000	0.55904	0.648000	0.24828	0.591000	0.29711	0.313000	0.20887	ACT		0.323	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		6	659	0	0	0	1	0	6	659					G	367563	C	G	367563	3	3	117	1	0	0	0	0	1	0	0	0	17783	565	20	5	1351	5	ZNF141	4	367563	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08		367563	190786713	18	37489	230	2									
ZNF141	7700	broad.mit.edu	37	chr4	367566	367566	+	Missense_Mutation	SNP	T	T	C													acataagaaaattcatactgTagataaaccctacaaatgta							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:367566T>C	ENST00000240499.7	+	4	1489	c.1340T>C	c.(1339-1341)gTa>gCa	p.V447A	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	447					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						ATTCATACTGTAGATAAACCC	0.318																																						ENST00000240499.7																			0				breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						c.(1339-1341)gTa>gCa		zinc finger protein 141							73	81	78					4																	367566		2203	4300	6503	SO:0001583	missense	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367566T>C	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"Zinc fingers, C2H2-type", "-"	12926	protein-coding gene	gene with protein product		194648	"zinc finger protein 141 (clone pHZ-44)"	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1340T>C	4.37:g.367566T>C	ENSP00000240499:p.Val447Ala					ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	p.V447A	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN			4	1489	+			447					Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	c.1340T>C	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.548054	0.45383	.	.	ENSG00000131127	ENST00000240499	T	0.20069	2.1	1.24	-2.48	0.06423	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	N	0.03294	-0.36	0.09310	N	1	B	0.27951	0.195	B	0.31016	0.123	T	0.41680	-0.9495	8	.	.	.	.	6.1756	0.20441	0.0:0.0:0.6906:0.3094	.	447	Q15928	ZN141_HUMAN	A	447	ENSP00000240499:V447A	.	V	+	2	0	ZNF141	357566	0.003000	0.15002	0.261000	0.24466	0.923000	0.55619	0.541000	0.23207	-0.489000	0.06716	0.260000	0.18958	GTA		0.318	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		7	667	0	0	0	1	0	7	667					C	367566	T	C	367566	3	2	117	1	0	0	0	0	1	0	0	0	17783	1638	57	4	1354	4	ZNF141	4	367566	Missense_Mutation	SNP	T	TCGA-XD-AAUG-01A-61D-A40W-08	3	367566	190786710	19	37490	230	2									
SCFD2	152579	broad.mit.edu	37	chr4	53751931	53751931	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggttcctggcttcaAcgatgccacaagatctttga	9	11	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:53751931A>G	ENST00000401642.3	-	8	2078	c.1945T>C	c.(1945-1947)Ttg>Ctg	p.L649L	SCFD2_ENST00000388940.4_Silent_p.L604L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	649					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)			CCTGGCTTCAACGATGCCACA	0.547																																						ENST00000401642.3																			0				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						c.(1945-1947)Ttg>Ctg		sec1 family domain containing 2							115	105	108					4																	53751931		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:53751931A>G	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.1945T>C	4.37:g.53751931A>G						SCFD2_ENST00000388940.4_Silent_p.L604L	p.L649L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		8	2078	-			649					Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.1945T>C	CCDS33984.1																																																																																				0.547	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		4	287	0	0	0	1	0	4	287					G	53751931	A	G	53751931	2	3	117	1	0	0	0	0	0	0	0	1	13940	40	2	4		4	SCFD2	4	53751931	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08	53384365	53751931	137402345	20	37491											
HERC5	51191	broad.mit.edu	37	chr4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A													gtttgaaagcattttacaagINSaaaaaaaaataattcagatc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		10	212						10	212	---	---	---	---	A	89381266	-	A	89381265	7	5	117	1	0	1	1	0	0	0	0	0	7091	943	33	0	419	0	HERC5	4	89381265	Frame_Shift_Ins	INS	-	TCGA-XD-AAUG-01A-61D-A40W-08	35629334	89381265	101773011	21	37492											
FSTL5	56884	broad.mit.edu	37	chr4	162459317	162459317	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttgggtggttctatacataCgggtctttctagcagagtct	12	7	4	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:162459317C>T	ENST00000306100.5	-	10	1749		c.e10+1		FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000536695.1_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5							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)		TCTATACATACGGGTCTTTCT	0.393																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.e10+1		follistatin-like 5							246	227	234					4																	162459317		2203	4300	6503	SO:0001630	splice_region_variant	56884					extracellular region	calcium ion binding	g.chr4:162459317C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1312+1G>A	4.37:g.162459317C>T						FSTL5_ENST00000536695.1_Splice_Site|FSTL5_ENST00000427802.2_Splice_Site|FSTL5_ENST00000379164.4_Splice_Site		NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	10	1749	-	all_hematologic(180;0.24)							E9PCP6|Q9NSW7|Q9ULF7	Splice_Site	SNP	ENST00000306100.5	37		CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558760	0.86231	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.027	0.89272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FSTL5	162678767	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.398000	0.79919	2.545000	0.85829	0.563000	0.77884	.		0.393	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116	Intron	11	660	0	0	0	1	0	11	660					T	162459317	C	T	162459317	5	4	117	1	0	0	0	0	0	0	1	0	6107	550	19	1	1258	1	FSTL5	4	162459317	Splice_Site	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	73078052	162459317	28694959	22	37493											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367721	184367721	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cgaggtgcccttgttgggctCctcaggaagctcagaggtag	15	10	2	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr4:184367721C>T	ENST00000504169.1	+	3	1091	c.884C>T	c.(883-885)tCc>tTc	p.S295F	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	295	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTGTTGGGCTCCTCAGGAAGC	0.468																																						ENST00000504169.1																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(883-885)tCc>tTc		CDKN2A interacting protein							61	61	61					4																	184367721		2203	4300	6503	SO:0001583	missense	55602				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	g.chr4:184367721C>T	AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.884C>T	4.37:g.184367721C>T	ENSP00000427108:p.Ser295Phe					CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	p.S295F	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	1091	+		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	295			Ser-rich.		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	ENST00000504169.1	37	c.884C>T	CCDS34110.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827967	0.32329	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.55	5.55	0.83447	.	0.683218	0.14266	N	0.330508	T	0.58380	0.2118	L	0.58101	1.795	0.80722	D	1	P	0.42123	0.771	B	0.39617	0.305	T	0.63457	-0.6633	9	0.72032	D	0.01	-6.0E-4	16.8133	0.85726	0.0:1.0:0.0:0.0	.	295	Q9NXV6	CARF_HUMAN	F	295	.	ENSP00000427108:S295F	S	+	2	0	CDKN2AIP	184604715	0.062000	0.20869	0.864000	0.33941	0.832000	0.47134	3.928000	0.56506	2.885000	0.99019	0.655000	0.94253	TCC		0.468	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361488.1	NM_017632		7	235	0	0	0	1	0	7	235					T	184367721	C	T	184367721	3	4	117	1	0	0	0	0	1	0	0	0	3171	855	30	2	894	2	CDKN2AIP	4	184367721	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	21908404	184367721	6786555	23	37494											
DNAH5	1767	broad.mit.edu	37	chr5	13754371	13754372	+	Frame_Shift_Ins	INS	-	-	C													ctctgtccatctttctttttINScacctgccaagccactgatg					rs148592658		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr5:13754371_13754372insC	ENST00000265104.4	-	62	10599_10600	c.10495_10496insG	c.(10495-10497)gaafs	p.E3499fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3499					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.E3499K(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)					TCTTTCTTTTTCACCTGCCAAG	0.411									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.E3499K(1)	skin(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10495-10497)aaafs		dynein, axonemal, heavy chain 5																																				SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13754371_13754372insC	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.10496dupG	5.37:g.13754372_13754372dupC	ENSP00000265104:p.Glu3499fs						p.K3499fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			62	10599_10600	-	Lung NSC(4;0.00476)		3499					Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Ins	INS	ENST00000265104.4	37	c.10495_10496insG	CCDS3882.1																																																																																				0.411	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	490						8	490	---	---	---	---	C	13754372	-	C	13754371	7	5	117	1	0	1	1	0	0	0	0	0	4620	1783	62	0	3450	0	DNAH5	5	13754371	Frame_Shift_Ins	INS	-	TCGA-XD-AAUG-01A-61D-A40W-08		13754371	167160889	24	37495											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	13	13	0	0	rs575896136	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	85	0	0	0	1	0	4	85					G	45390466	A	G	45390466	2	3	117	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08		45390466	125724601	25	37496											
DST	667	broad.mit.edu	37	chr6	56497706	56497706	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctgcttacatacattaacctCcttttccagttgtgttatat	4	10	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:56497706C>T	ENST00000361203.3	-	24	3125	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	DST_ENST00000370754.5_Missense_Mutation_p.E1218K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K|DST_ENST00000370788.2_Missense_Mutation_p.E1040K			Q03001	DYST_HUMAN	dystonin	1040					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)			ACATTAACCTCCTTTTCCAGT	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(3652-3654)Gag>Aag		dystonin							121	119	119					6																	56497706		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56497706C>T	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.3118G>A	6.37:g.56497706C>T	ENSP00000354508:p.Glu1040Lys					DST_ENST00000518935.1_Missense_Mutation_p.E714K|DST_ENST00000446842.2_Missense_Mutation_p.E714K|DST_ENST00000370769.4_Missense_Mutation_p.E1040K|DST_ENST00000421834.2_Missense_Mutation_p.E1040K|DST_ENST00000370765.6_Missense_Mutation_p.E714K|DST_ENST00000370788.2_Missense_Mutation_p.E1040K|DST_ENST00000244364.6_Missense_Mutation_p.E714K|DST_ENST00000312431.6_Missense_Mutation_p.E1040K|DST_ENST00000361203.3_Missense_Mutation_p.E1040K	p.E1218K			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		27	3651	-	Lung NSC(77;0.103)		1040					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.3652G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.100384	0.94245	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.69926	1.48;1.48;1.48;1.48;1.48;1.48;1.48;-0.44;1.48;1.48;1.48;-0.42	5.6	4.73	0.59995	.	0.107851	0.40302	N	0.001138	T	0.76399	0.3982	M	0.77820	2.39	0.33173	D	0.548481	B;D;B;P;D;D;B;P	0.69078	0.012;0.997;0.012;0.948;0.995;0.995;0.012;0.57	B;D;B;P;D;D;B;B	0.73380	0.012;0.98;0.012;0.65;0.946;0.977;0.012;0.202	T	0.80553	-0.1331	9	0.54805	T	0.06	.	14.9154	0.70792	0.0:0.9309:0.0:0.0691	.	1040;1040;1218;714;714;714;1040;714	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	714;1218;1040;1040;714;1040;1040;1040;714;1080;714;714	ENSP00000244364:E714K;ENSP00000359790:E1218K;ENSP00000359805:E1040K;ENSP00000400883:E1040K;ENSP00000393645:E714K;ENSP00000307959:E1040K;ENSP00000359824:E1040K;ENSP00000354508:E1040K;ENSP00000404924:E714K;ENSP00000431030:E1080K;ENSP00000359801:E714K;ENSP00000431003:E714K	ENSP00000244364:E714K	E	-	1	0	DST	56605665	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	1.503000	0.48686	0.563000	0.77884	GAG		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	217	0	0	0	1	0	7	217					T	56497706	C	T	56497706	3	4	117	1	0	0	0	0	1	0	0	0	4799	864	30	2	18299	2	DST	6	56497706	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	11107240	56497706	114617361	26	37497											
MAP7	9053	broad.mit.edu	37	chr6	136681852	136681852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	taccttctttctctccaggcGctcttgctcttctctctgga	6	15	6	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:136681852G>T	ENST00000354570.3	-	13	2196	c.1786C>A	c.(1786-1788)Cgc>Agc	p.R596S	MAP7_ENST00000454590.1_Missense_Mutation_p.R618S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S|MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000432797.2_Missense_Mutation_p.R450S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	596					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTCCAGGCGCTCTTGCTCT	0.542																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1786-1788)Cgc>Agc		microtubule-associated protein 7							315	342	333					6																	136681852		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136681852G>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1786C>A	6.37:g.136681852G>T	ENSP00000346581:p.Arg596Ser					MAP7_ENST00000438100.2_Missense_Mutation_p.R581S|MAP7_ENST00000432797.2_Missense_Mutation_p.R450S|MAP7_ENST00000544465.1_Missense_Mutation_p.R581S|MAP7_ENST00000454590.1_Missense_Mutation_p.R618S	p.R596S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	13	2196	-	Colorectal(23;0.24)		596					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.1786C>A	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876311	0.51801	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000045	T	0.61937	0.2387	M	0.91818	3.245	0.48901	D	0.999723	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.994;0.997;0.999;1.0;0.999	T	0.70022	-0.4986	10	0.72032	D	0.01	-9.7161	14.1681	0.65490	0.0:0.0:0.8502:0.1498	.	581;618;581;618;502;559;596	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	S	596;618;581;581;450;502	ENSP00000346581:R596S;ENSP00000414712:R618S;ENSP00000445737:R581S;ENSP00000400790:R581S;ENSP00000414879:R450S	ENSP00000344217:R502S	R	-	1	0	MAP7	136723545	1.000000	0.71417	0.998000	0.56505	0.122000	0.20287	4.801000	0.62532	2.660000	0.90430	0.655000	0.94253	CGC		0.542	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		19	1956	1	0	5.50884e-06	1	5.97112e-06	19	1956					T	136681852	G	T	136681852	3	4	117	1	0	0	0	0	1	0	0	0	9307	1087	38	3	487	3	MAP7	6	136681852	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	80184146	136681852	34433215	27	37498											
AKAP12	9590	broad.mit.edu	37	chr6	151669953	151669953	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgatgggcaggaggagacaCccgaaataatcgaacagatt	12	7	0	3			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr6:151669953C>A	ENST00000253332.1	+	3	616	c.427C>A	c.(427-429)Ccc>Acc	p.P143T	snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000402676.2_Missense_Mutation_p.P143T|AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	143				TPEI -> NRN (in Ref. 1; AAC51366). {ECO:0000305}.	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)		GGAGGAGACACCCGAAATAAT	0.438																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				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						c.(427-429)Ccc>Acc		A kinase (PRKA) anchor protein 12							98	89	92					6																	151669953		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151669953C>A	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.427C>A	6.37:g.151669953C>A	ENSP00000253332:p.Pro143Thr					AKAP12_ENST00000354675.6_Missense_Mutation_p.P45T|AKAP12_ENST00000253332.1_Missense_Mutation_p.P143T|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Missense_Mutation_p.P38T	p.P143T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	667	+		Ovarian(120;0.125)	143	TPEI -> NRN (in Ref. 1; AAC51366).				O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.427C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770336	0.49680	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07114	3.22;3.22;3.23;3.23	5.55	3.74	0.42951	.	0.196693	0.25464	N	0.030494	T	0.03011	0.0089	L	0.58101	1.795	0.09310	N	0.999998	P;P;P	0.42692	0.759;0.759;0.787	B;B;B	0.35655	0.207;0.207;0.102	T	0.37314	-0.9711	10	0.30078	T	0.28	.	10.6995	0.45918	0.0:0.8402:0.0:0.1598	.	38;45;143	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	143;143;45;38	ENSP00000384537:P143T;ENSP00000253332:P143T;ENSP00000346702:P45T;ENSP00000352794:P38T	ENSP00000253332:P143T	P	+	1	0	AKAP12	151711646	0.001000	0.12720	0.044000	0.18714	0.005000	0.04900	0.299000	0.19138	0.788000	0.33755	0.563000	0.77884	CCC		0.438	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			11	299	1	0	4.68919e-08	1	5.26684e-08	11	299					A	151669953	C	A	151669953	3	1	117	1	0	0	0	0	1	0	0	0	448	507	18	3	466	3	AKAP12	6	151669953	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	14988101	151669953	19445114	28	37499											
ATP5J2	9551	broad.mit.edu	37	chr7	99057763	99057763	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcccgcatcaagatccAgcttggcagctcccccagtt	9	15	1	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr7:99057763A>T	ENST00000292475.3	-	2	274	c.85T>A	c.(85-87)Tgg>Agg	p.W29R	ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|PTCD1_ENST00000555673.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.W23R	NM_004889.3	NP_004880.1	P56134	ATPK_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2	29					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|nucleus (GO:0005634)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	transmembrane transporter activity (GO:0022857)			large_intestine(1)|ovary(1)	2	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)					ATCAAGATCCAGCTTGGCAGC	0.473																																						ENST00000413834.1																			0											c.(67-69)Tgg>Agg									171	186	181					7																	99057763		2203	4300	6503	SO:0001583	missense	0							g.chr7:99057763A>T	AF047436	CCDS5665.1, CCDS34692.1, CCDS47653.1, CCDS47654.1	7q22.1	2012-10-12	2010-06-11		ENSG00000241468	ENSG00000241468		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	848	protein-coding gene	gene with protein product	"F1Fo-ATPase synthase f subunit", "ATP synthase f chain, mitochondrial", "F1Fo-ATP synthase complex Fo membrane domain f subunit"		"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f, isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F2"			9653160	Standard	NM_004889		Approved	F1Fo-ATPase, ATP5JL		P56134	OTTHUMG00000154609	ENST00000292475.3:c.85T>A	7.37:g.99057763A>T	ENSP00000292475:p.Trp29Arg					PTCD1_ENST00000555673.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000544611.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000488775.1_Missense_Mutation_p.W23R|ATP5J2_ENST00000394186.3_Missense_Mutation_p.W23R|ATP5J2_ENST00000449683.1_Missense_Mutation_p.W33R|ATP5J2_ENST00000359832.4_Missense_Mutation_p.W29R|ATP5J2_ENST00000292475.3_Missense_Mutation_p.W29R	p.W23R			B4DJ38	B4DJ38_HUMAN			2	89	-			23					C9J8H9|F8W7V3|O76079|Q6IBB3|Q96L83|Q9BTI8	Missense_Mutation	SNP	ENST00000292475.3	37	c.67T>A	CCDS5665.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691622	0.88735	.	.	ENSG00000106246;ENSG00000248919;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468;ENSG00000241468	ENST00000555673;ENST00000413834;ENST00000449683;ENST00000359832;ENST00000292475;ENST00000544611;ENST00000488775;ENST00000394186	D;D;T;T	0.93366	-3.21;-3.21;2.74;2.74	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.62088	1.915	0.38185	D	0.939747	D;D;P;D;P	0.89917	1.0;1.0;0.928;0.958;0.91	D;D;P;D;P	0.91635	0.999;0.999;0.851;0.934;0.807	D	0.97011	0.9736	10	0.62326	D	0.03	.	14.5027	0.67732	1.0:0.0:0.0:0.0	.	23;29;23;29;23	G3V325;F8W7V3;C9J8H9;P56134;P56134-2	.;.;.;ATPK_HUMAN;.	R	23;23;33;29;29;23;23;23	ENSP00000450995:W23R;ENSP00000400168:W23R;ENSP00000407540:W33R;ENSP00000377740:W23R	ENSP00000292475:W29R	W	-	1	0	ATP5J2;ATP5J2-PTCD1;PTCD1	98895699	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.182000	0.89698	1.924000	0.55735	0.379000	0.24179	TGG		0.473	ATP5J2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336263.1	NM_004889		54	1000	0	0	0	1	0	54	1000					T	99057763	A	T	99057763	3	4	117	1	0	0	0	0	1	0	0	0	1160	188	7	5	240	5	ATP5J2	7	99057763	Missense_Mutation	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08		99057763	60080900	29	37500											
MUC17	140453	broad.mit.edu	37	chr7	100680446	100680446	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacggtagcagcatgCcaacctcaactcctagggaa	10	13	1	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr7:100680446C>T	ENST00000306151.4	+	3	5813	c.5749C>T	c.(5749-5751)Cca>Tca	p.P1917S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1917	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)					TAGCAGCATGCCAACCTCAAC	0.493																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5749-5751)Cca>Tca		mucin 17, cell surface associated							249	248	248					7																	100680446		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680446C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5749C>T	7.37:g.100680446C>T	ENSP00000302716:p.Pro1917Ser						p.P1917S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5813	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1917			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5749C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	N	0.458	-0.890622	0.02491	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.18	-2.36	0.06663	.	.	.	.	.	T	0.01695	0.0054	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.48980	-0.8986	9	0.02654	T	1	.	0.1051	0.00051	0.2518:0.2558:0.1787:0.3137	.	1917	Q685J3	MUC17_HUMAN	S	1917	ENSP00000302716:P1917S	ENSP00000302716:P1917S	P	+	1	0	MUC17	100467166	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.416000	0.01035	-1.918000	0.01072	0.123000	0.15791	CCA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	983	0	0	0	1	0	7	983					T	100680446	C	T	100680446	3	4	117	1	0	0	0	0	1	0	0	0	10015	739	26	2	5759	2	MUC17	7	100680446	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	1622683	100680446	58458217	30	37501											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	160	0	0	0	1	0	5	160					G	114269973	A	G	114269973	2	3	117	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08	13589527	114269973	44868690	31	37502											
ENTPD4	9583	broad.mit.edu	37	chr8	23290634	23290634	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaacgccccgccagtgggtGtgactggctcggaaggcctc	15	13	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:23290634G>A	ENST00000358689.4	-	13	1891	c.1656C>T	c.(1654-1656)caC>caT	p.H552H	ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	552					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)		GCCAGTGGGTGTGACTGGCTC	0.577																																						ENST00000358689.4																			0				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						c.(1654-1656)caC>caT		ectonucleoside triphosphate diphosphohydrolase 4							47	51	49					8																	23290634		2203	4300	6503	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290634G>A	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.1656C>T	8.37:g.23290634G>A						ENTPD4_ENST00000417069.2_Silent_p.H544H|ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron	p.H552H	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1891	-		Prostate(55;0.114)	552					D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.1656C>T	CCDS6041.1																																																																																				0.577	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		9	215	0	0	0	1	0	9	215					A	23290634	G	A	23290634	2	1	117	1	0	0	0	0	0	0	0	1	5159	1368	48	2		2	ENTPD4	8	23290634	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		23290634	123073388	32	37503											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-													cctgtgaaacccaccacgccTttttcccatattacggacat							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					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)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179	176	177					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	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.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		7	1046						7	1046	---	---	---	---	-	105440214	T	-	105440214	7	5	117	1	0	1	0	1	0	0	0	0	4762	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-XD-AAUG-01A-61D-A40W-08	82149580	105440214	40923808	33	37504											
MPDZ	8777	broad.mit.edu	37	chr9	13168481	13168481	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtccccaatggcaatccgGccatctcgactaatggcacc	8	16	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:13168481G>A	ENST00000319217.7	-	22	3385	c.3138C>T	c.(3136-3138)ggC>ggT	p.G1046G	MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G|MPDZ_ENST00000381022.2_Silent_p.G1046G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1046	PDZ 6. {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)		TGGCAATCCGGCCATCTCGAC	0.448																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3136-3138)ggC>ggT		multiple PDZ domain protein							207	202	203					9																	13168481		1970	4155	6125	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168481G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3138C>T	9.37:g.13168481G>A						MPDZ_ENST00000536827.1_Silent_p.G1046G|MPDZ_ENST00000381015.4_Silent_p.G1046G|MPDZ_ENST00000381022.2_Silent_p.G1046G|MPDZ_ENST00000541718.1_Silent_p.G1046G|MPDZ_ENST00000447879.1_Silent_p.G1046G|MPDZ_ENST00000546205.1_Silent_p.G1046G	p.G1046G	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3385	-			1046			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.3138C>T																																																																																					0.448	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		6	850	0	0	0	1	0	6	850					A	13168481	G	A	13168481	2	1	117	1	0	0	0	0	0	0	0	1	9763	1190	42	2		2	MPDZ	9	13168481	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		13168481	128044950	34	37505											
BNC2	54796	broad.mit.edu	37	chr9	16435989	16435989	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	atccccttccatggattcctCgcccagtttgggctccgaag	9	15	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:16435989C>T	ENST00000380672.4	-	6	2260	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	BNC2_ENST00000545497.1_Missense_Mutation_p.E640K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K|BNC2_ENST00000380666.2_Missense_Mutation_p.E735K	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)		ATGGATTCCTCGCCCAGTTTG	0.512																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(2203-2205)Gag>Aag		basonuclin 2							103	90	94					9																	16435989		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16435989C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2203G>A	9.37:g.16435989C>T	ENSP00000370047:p.Glu735Lys					BNC2_ENST00000380666.2_Missense_Mutation_p.E735K|BNC2_ENST00000380667.2_Missense_Mutation_p.E668K|BNC2_ENST00000545497.1_Missense_Mutation_p.E640K	p.E735K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2260	-			735						Missense_Mutation	SNP	ENST00000380672.4	37	c.2203G>A	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494610	0.44352	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.46063	1.49;0.88;1.5;1.51;1.5;1.49	5.56	5.56	0.83823	.	0.154450	0.56097	D	0.000021	T	0.25121	0.0610	L	0.27053	0.805	0.80722	D	1	P;P;P;P;P;P;P;P;B	0.43885	0.641;0.725;0.82;0.82;0.681;0.509;0.509;0.725;0.327	B;B;B;B;B;B;B;B;B	0.25291	0.054;0.024;0.054;0.054;0.04;0.024;0.024;0.059;0.018	T	0.13818	-1.0495	10	0.11182	T	0.66	-9.5392	19.5353	0.95251	0.0:1.0:0.0:0.0	.	640;668;735;561;735;692;735;640;500	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	K	735;128;692;668;640;561;735;735	ENSP00000370047:E735K;ENSP00000392212:E128K;ENSP00000408370:E692K;ENSP00000370042:E668K;ENSP00000444640:E640K;ENSP00000370041:E735K	ENSP00000370041:E735K	E	-	1	0	BNC2	16425989	1.000000	0.71417	0.980000	0.43619	0.794000	0.44872	4.921000	0.63397	2.618000	0.88619	0.650000	0.86243	GAG		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		12	320	0	0	0	1	0	12	320					T	16435989	C	T	16435989	3	4	117	1	0	0	0	0	1	0	0	0	1477	893	31	1	1104	1	BNC2	9	16435989	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	3267508	16435989	124777442	35	37506											
CORO2A	7464	broad.mit.edu	37	chr9	100895437	100895437	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatcacatcttggtgacaGctaatcgtactcatggggct	11	9	3	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:100895437G>A	ENST00000343933.5	-	5	788	c.531C>T	c.(529-531)agC>agT	p.S177S	CORO2A_ENST00000375077.4_Silent_p.S177S	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)				CTTGGTGACAGCTAATCGTAC	0.547																																						ENST00000343933.5																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26						c.(529-531)agC>agT		coronin, actin binding protein, 2A							290	216	241					9																	100895437		2203	4300	6503	SO:0001819	synonymous_variant	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100895437G>A	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.531C>T	9.37:g.100895437G>A						CORO2A_ENST00000375077.4_Silent_p.S177S	p.S177S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN			5	788	-		Acute lymphoblastic leukemia(62;0.0559)	177					Q5TBR5|Q92829|Q9BWS5	Silent	SNP	ENST00000343933.5	37	c.531C>T	CCDS6735.1																																																																																				0.547	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		5	361	0	0	0	1	0	5	361					A	100895437	G	A	100895437	2	1	117	1	0	0	0	0	0	0	0	1	3765	962	34	2		2	CORO2A	9	100895437	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	84459448	100895437	40317994	36	37507											
CEL	1056	broad.mit.edu	37	chr9	135941982	135941982	+	Frame_Shift_Del	DEL	G	G	-													agaggaatatcgcggccttcGggggggaccccaacaacatc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:135941982delG	ENST00000372080.4	+	5	629	c.613delG	c.(613-615)gggfs	p.G206fs	CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	203					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)		CGCGGCCTTCGGGGGGGACCC	0.642																																						ENST00000372080.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20						c.(613-615)ggfs		carboxyl ester lipase							95	106	102					9																	135941982		1941	4145	6086	SO:0001589	frameshift_variant	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135941982delG	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.613delG	9.37:g.135941982delG	ENSP00000361151:p.Gly206fs					CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs	p.G206fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	5	629	+			203					Q16398|Q5T7U7|Q9UCH1|Q9UP41	Frame_Shift_Del	DEL	ENST00000372080.4	37	c.613delG	CCDS43896.1																																																																																				0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1			7	825						7	825	---	---	---	---	-	135941982	G	-	135941982	7	5	117	1	0	1	0	1	0	0	0	0	3218	1116	39	0	631	0	CEL	9	135941982	Frame_Shift_Del	DEL	G	TCGA-XD-AAUG-01A-61D-A40W-08	35046545	135941982	5271449	37	37508											
ADAMTS13	11093	broad.mit.edu	37	chr9	136298550	136298550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgacccccatagcagCagtgcatgggcgctggtcta	14	12	1	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr9:136298550C>T	ENST00000371929.3	+	10	1589	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	382	Disintegrin.				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)		CCCATAGCAGCAGTGCATGGG	0.652																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(1144-1146)gCa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							65	62	63					9																	136298550		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136298550C>T	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1145C>T	9.37:g.136298550C>T	ENSP00000360997:p.Ala382Val					ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A351V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A382V|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.A54V	p.A382V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	10	1589	+			382			Disintegrin.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.1145C>T	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.579567	0.00879	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.88	-1.23	0.09465	.	.	.	.	.	T	0.21145	0.0509	N	0.00525	-1.395	0.09310	N	1	B;B;B	0.14012	0.001;0.009;0.005	B;B;B	0.06405	0.001;0.002;0.002	T	0.26395	-1.0104	9	0.23891	T	0.37	.	9.0857	0.36579	0.0:0.2758:0.0:0.7242	.	382;351;382	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	V	382;382;351;54	ENSP00000360997:A382V;ENSP00000347927:A382V;ENSP00000348997:A351V;ENSP00000444504:A54V	ENSP00000347927:A382V	A	+	2	0	ADAMTS13	135288371	0.952000	0.32445	0.002000	0.10522	0.006000	0.05464	1.776000	0.38594	-0.069000	0.12931	0.462000	0.41574	GCA		0.652	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		11	288	0	0	0	1	0	11	288					T	136298550	C	T	136298550	3	4	117	1	0	0	0	0	1	0	0	0	258	710	25	2	1183	2	ADAMTS13	9	136298550	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	356568	136298550	4914881	38	37509											
TUBAL3	79861	broad.mit.edu	37	chr10	5443000	5443000	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caatagagttcccagcaggcGtccccaatctggatgccagc	10	14	1	1	rs148158899		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:5443000G>A	ENST00000380419.3	-	2	91	c.54C>T	c.(52-54)gaC>gaT	p.D18D	TUBAL3_ENST00000479328.1_Intron	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	18					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						CCCAGCAGGCGTCCCCAATCT	0.483																																						ENST00000380419.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						c.(52-54)gaC>gaT		tubulin, alpha-like 3		G	,	0,4406		0,0,2203	122	113	116		,54	0	0.2	10	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	TUBAL3	NM_001171864.1,NM_024803.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,18/447	5443000	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5443000G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"Tubulins"	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.54C>T	10.37:g.5443000G>A						TUBAL3_ENST00000479328.1_Intron	p.D18D	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN			2	91	-			18					B4DKL2|Q4QQJ5|Q9H6Z0	Silent	SNP	ENST00000380419.3	37	c.54C>T	CCDS7066.2																																																																																				0.483	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		15	370	0	0	0	1	0	15	370					A	5443000	G	A	5443000	2	1	117	1	0	0	0	0	0	0	0	1	16805	1136	40	1		1	TUBAL3	10	5443000	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		5443000	130091747	39	37510											
FZD8	8325	broad.mit.edu	37	chr10	35930018	35930018	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cggcgcgcagccggccttggCgcgctcgcacaccgagcggc	16	18	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:35930018C>T	ENST00000374694.1	-	1	344	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	114	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						CCGGCCTTGGCGCGCTCGCAC	0.682																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(340-342)Gcc>Acc		frizzled family receptor 8							23	26	25					10																	35930018		2198	4295	6493	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35930018C>T	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"GPCR / Class F : Frizzled receptors"	4046	protein-coding gene	gene with protein product		606146	"frizzled (Drosophila) homolog 8", "frizzled homolog 8 (Drosophila)", "frizzled 8, seven transmembrane spanning receptor", "frizzled family receptor 8"			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.340G>A	10.37:g.35930018C>T	ENSP00000363826:p.Ala114Thr						p.A114T	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	344	-			114			FZ.			Missense_Mutation	SNP	ENST00000374694.1	37	c.340G>A	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033182	0.75504	.	.	ENSG00000177283	ENST00000374694	T	0.56444	0.46	3.21	3.21	0.36854	Frizzled domain (5);	0.000000	0.64402	U	0.000002	T	0.73644	0.3613	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80103	-0.1522	10	0.72032	D	0.01	.	14.5091	0.67772	0.0:1.0:0.0:0.0	.	114	Q9H461	FZD8_HUMAN	T	114	ENSP00000363826:A114T	ENSP00000363826:A114T	A	-	1	0	FZD8	35970024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.700000	0.68318	1.821000	0.53095	0.442000	0.29010	GCC		0.682	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		4	108	0	0	0	1	0	4	108					T	35930018	C	T	35930018	3	4	117	1	0	0	0	0	1	0	0	0	6163	768	27	1	1748	1	FZD8	10	35930018	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	30487018	35930018	99604729	40	37511											
FRG2B	441581	broad.mit.edu	37	chr10	135438836	135438836	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagctgctcacaggtaaGtggagaatggatctgctgtg	14	7	3	1	rs199658046		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr10:135438836G>T	ENST00000425520.1	-	4	656	c.604C>A	c.(604-606)Ctt>Att	p.L202I	FRG2B_ENST00000443774.1_Missense_Mutation_p.L203I	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	202						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACAGGTAAGTGGAGAATGG	0.552																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(607-609)Ctt>Att		FSHD region gene 2 family, member B							17	21	19					10																	135438836		1949	4118	6067	SO:0001583	missense	441581					nucleus		g.chr10:135438836G>T	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.604C>A	10.37:g.135438836G>T	ENSP00000401310:p.Leu202Ile					FRG2B_ENST00000425520.1_Missense_Mutation_p.L202I	p.L203I			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	656	-		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)	202					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.607C>A	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	12.58	1.979824	0.34942	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.57595	0.39;0.39	.	.	.	.	0.262894	0.20253	N	0.096035	T	0.54398	0.1856	L	0.32530	0.975	0.09310	N	0.999998	P	0.49696	0.927	D	0.67725	0.953	T	0.43212	-0.9405	8	0.62326	D	0.03	-11.3091	.	.	.	.	202	Q96QU4	FRG2B_HUMAN	I	203;202	ENSP00000408343:L203I;ENSP00000401310:L202I	ENSP00000401310:L202I	L	-	1	0	FRG2B	135288826	0.021000	0.18746	0.445000	0.26908	0.450000	0.32258	0.308000	0.19314	0.119000	0.18210	0.121000	0.15741	CTT		0.552	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		6	218	1	0	1.15088e-07	1	1.27419e-07	6	218					T	135438836	G	T	135438836	3	4	117	1	0	0	0	0	1	0	0	0	6074	1029	36	3	235	3	FRG2B	10	135438836	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	99508818	135438836	95911	41	37512											
ZNF195	7748	broad.mit.edu	37	chr11	3380510	3380510	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cattcgtcacatttgtagggTttctctccagtatgggtttt	9	8	2	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:3380510T>C	ENST00000399602.4	-	6	1854	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K	ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000354599.6_Silent_p.K504K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	576					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)		ATTTGTAGGGTTTCTCTCCAG	0.393																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1510-1512)aaA>aaG		zinc finger protein 195																																				SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380510T>C		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.1728A>G	11.37:g.3380510T>C						ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000526601.1_Silent_p.K557K|ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000528796.1_Intron	p.K504K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1616	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	576					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1512A>G	CCDS44522.1																																																																																				0.393	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	447	0	0	0	1	0	6	447					C	3380510	T	C	3380510	2	2	117	1	0	0	0	0	0	0	0	1	17811	1722	60	4		4	ZNF195	11	3380510	Silent	SNP	T	TCGA-XD-AAUG-01A-61D-A40W-08		3380510	131626006	42	37513											
OR5P3	120066	broad.mit.edu	37	chr11	7847156	7847156	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tgagcagatggccacatagcGatcataggccatggcagcca	12	11	1	2	rs117218570		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:7847156G>A	ENST00000328375.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCACATAGCGATCATAGGCC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		19120	0.001		0.0	False		,,,				2504	0.0					ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(364-366)Cgc>Tgc		olfactory receptor, family 5, subfamily P, member 3							138	132	134					11																	7847156		2185	4296	6481	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847156G>A	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.364C>T	11.37:g.7847156G>A	ENSP00000332068:p.Arg122Cys					RP11-35J10.5_ENST00000527565.1_lincRNA	p.R122C	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	363	-			122					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.364C>T	CCDS7783.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.15	1.851091	0.32699	.	.	ENSG00000182334	ENST00000328375	T	0.77358	-1.09	5.28	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.495306	0.17510	N	0.171680	T	0.71829	0.3386	M	0.77712	2.385	0.40907	D	0.984205	P	0.41345	0.746	B	0.34138	0.176	T	0.72846	-0.4169	10	0.72032	D	0.01	-18.8109	6.7708	0.23593	0.1574:0.0:0.701:0.1415	.	122	Q8WZ94	OR5P3_HUMAN	C	122	ENSP00000332068:R122C	ENSP00000332068:R122C	R	-	1	0	OR5P3	7803732	0.999000	0.42202	0.995000	0.50966	0.176000	0.22953	1.895000	0.39778	0.816000	0.34421	0.644000	0.83932	CGC		0.557	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		29	375	0	0	0	1	0	29	375					A	7847156	G	A	7847156	3	1	117	1	0	0	0	0	1	0	0	0	11221	1058	37	1	574	1	OR5P3	11	7847156	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	4466646	7847156	127159360	43	37514											
KCNA4	3739	broad.mit.edu	37	chr11	30034029	30034031	+	In_Frame_Del	DEL	TGG	TGG	-													aggtacaggccccgcgtgacTggtggtggtggtgggagccc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:30034029_30034031delTGG	ENST00000328224.6	-	2	1428_1430	c.195_197delCCA	c.(193-198)caccag>cag	p.H65del	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	65	Poly-His.				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)	CCCGCGTGACTGGTGGTGGTGGT	0.66																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(193-198)cag>ca		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30034029_30034031delTGG	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.195_197delCCA	11.37:g.30034038_30034040delTGG	ENSP00000328511:p.His65del						p.HQ65del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1428_1430	-			65			Poly-His.			In_Frame_Del	DEL	ENST00000328224.6	37	c.195_197delCCA	CCDS41629.1																																																																																				0.66	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		8	370						8	370	---	---	---	---	-	30034031	TGG	-	30034029	7	5	117	1	0	1	0	1	0	0	0	0	8035	1580	55	0	1768	0	KCNA4	11	30034029	In_Frame_Del	DEL	TGG	TCGA-XD-AAUG-01A-61D-A40W-08	22186873	30034029	104972487	44	37515											
GRIA4	2893	broad.mit.edu	37	chr11	105795458	105795458	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	acagcctctggttttccctgGgtgcttttatgcagcaagga	11	10	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:105795458G>T	ENST00000530497.1	+	11	1810	c.1810G>T	c.(1810-1812)Ggt>Tgt	p.G604C	GRIA4_ENST00000282499.5_Missense_Mutation_p.G604C|GRIA4_ENST00000393127.2_Missense_Mutation_p.G604C|GRIA4_ENST00000525187.1_Missense_Mutation_p.G604C			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	604					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)		GTTTTCCCTGGGTGCTTTTAT	0.453																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1810-1812)Ggt>Tgt		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						82	71	75					11																	105795458		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795458G>T	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.1810G>T	11.37:g.105795458G>T	ENSP00000435775:p.Gly604Cys					GRIA4_ENST00000530497.1_Missense_Mutation_p.G604C|GRIA4_ENST00000282499.5_Missense_Mutation_p.G604C|GRIA4_ENST00000525187.1_Missense_Mutation_p.G604C	p.G604C	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	2256	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	604					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1810G>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903038	0.92035	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	6.05	6.05	0.98169	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000001	T	0.81725	0.4883	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83560	0.0106	10	0.87932	D	0	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	604;604	P48058;G3V164	GRIA4_HUMAN;.	C	604	ENSP00000282499:G604C;ENSP00000376835:G604C;ENSP00000435775:G604C;ENSP00000432180:G604C	ENSP00000282499:G604C	G	+	1	0	GRIA4	105300668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.496000	0.97967	2.878000	0.98634	0.650000	0.86243	GGT		0.453	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			5	212	1	0	1.23904e-05	1	1.31542e-05	5	212					T	105795458	G	T	105795458	3	4	117	1	0	0	0	0	1	0	0	0	6800	1232	43	3	1889	3	GRIA4	11	105795458	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	75761429	105795458	29211058	45	37516											
RPUSD4	84881	broad.mit.edu	37	chr11	126075456	126075456	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgcgcattccggctgcgccGcactttcaccattttcccat	7	16	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr11:126075456G>A	ENST00000298317.4	-	5	756	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	RPUSD4_ENST00000533628.1_Intron|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	235					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)		CGGCTGCGCCGCACTTTCACC	0.552																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(703-705)Cgg>Tgg		RNA pseudouridylate synthase domain containing 4							129	117	121					11																	126075456		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126075456G>A	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.703C>T	11.37:g.126075456G>A	ENSP00000298317:p.Arg235Trp					RPUSD4_ENST00000533628.1_Intron	p.R235W	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	5	756	-	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)	235					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.703C>T	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657801	0.67586	.	.	ENSG00000165526	ENST00000298317	T	0.14266	2.52	5.72	5.72	0.89469	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.191170	0.46758	D	0.000268	T	0.47340	0.1440	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.56733	-0.7930	10	0.87932	D	0	-23.4884	17.0528	0.86524	0.0:0.0:1.0:0.0	.	235	Q96CM3	RUSD4_HUMAN	W	235	ENSP00000298317:R235W	ENSP00000298317:R235W	R	-	1	2	RPUSD4	125580666	1.000000	0.71417	0.161000	0.22692	0.144000	0.21451	4.765000	0.62271	2.691000	0.91804	0.655000	0.94253	CGG		0.552	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		6	337	0	0	0	1	0	6	337					A	126075456	G	A	126075456	3	1	117	1	0	0	0	0	1	0	0	0	13719	1086	38	1	442	1	RPUSD4	11	126075456	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	20279998	126075456	8931060	46	37517											
PLEKHA5	54477	broad.mit.edu	37	chr12	19511180	19511180	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggaaagaccaagaagtgcaGtggaacagctctgtttggct	13	7	1	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:19511180G>A	ENST00000299275.6	+	21	2665	c.2659G>A	c.(2659-2661)Gtg>Atg	p.V887M	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.V945M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	887					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)					AAGAAGTGCAGTGGAACAGCT	0.373																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2833-2835)Gtg>Atg		pleckstrin homology domain containing, family A member 5							88	76	80					12																	19511180		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19511180G>A	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.2659G>A	12.37:g.19511180G>A	ENSP00000299275:p.Val887Met					PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V950M|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V645M|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V831M|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V945M|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.V887M|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V869M|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V876M|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V1053M	p.V945M	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			23	2837	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		887					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2833G>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019709	0.75275	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.29917	2.9;2.9;1.55;2.9;2.9;2.9;2.9;2.9;2.9;2.9;1.55	5.36	5.36	0.76844	.	0.130140	0.51477	D	0.000083	T	0.52517	0.1739	L	0.50919	1.6	0.45883	D	0.998737	D;D;D;D;D;D;P;D	0.89917	0.998;0.958;0.964;0.998;1.0;1.0;0.93;0.958	D;P;P;D;D;D;P;P	0.91635	0.994;0.793;0.625;0.938;0.999;0.99;0.625;0.793	T	0.48843	-0.8999	10	0.59425	D	0.04	-18.2607	19.3318	0.94293	0.0:0.0:1.0:0.0	.	950;869;876;1048;831;1053;887;945	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	M	950;945;831;1049;1053;887;645;945;876;869;842;168	ENSP00000325155:V950M;ENSP00000347560:V945M;ENSP00000352104:V831M;ENSP00000404296:V1053M;ENSP00000299275:V887M;ENSP00000440611:V645M;ENSP00000439673:V945M;ENSP00000400411:V876M;ENSP00000439837:V869M;ENSP00000440371:V842M;ENSP00000443553:V168M	ENSP00000299275:V887M	V	+	1	0	PLEKHA5	19402447	1.000000	0.71417	0.989000	0.46669	0.826000	0.46750	6.847000	0.75404	2.805000	0.96524	0.551000	0.68910	GTG		0.373	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		7	136	0	0	0	1	0	7	136					A	19511180	G	A	19511180	3	1	117	1	0	0	0	0	1	0	0	0	12101	1029	36	2	3059	2	PLEKHA5	12	19511180	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		19511180	114340715	47	37518											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		7	180	1	0	0.335167	1	0.337344	7	180					A	25398284	C	A	25398284	3	1	117	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	5887104	25398284	108453611	48	37519											
SDR9C7	121214	broad.mit.edu	37	chr12	57327752	57327752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taattcgccccaccttgttcGcccactttgtccctcaccca	4	19	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr12:57327752G>A	ENST00000293502.1	-	1	437	c.294C>T	c.(292-294)ggC>ggT	p.G98G		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	98					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CACCTTGTTCGCCCACTTTGT	0.542																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(292-294)ggC>ggT		short chain dehydrogenase/reductase family 9C, member 7							99	90	93					12																	57327752		2203	4300	6503	SO:0001819	synonymous_variant	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57327752G>A	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.294C>T	12.37:g.57327752G>A							p.G98G	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			1	437	-			98					B3KVB4	Silent	SNP	ENST00000293502.1	37	c.294C>T	CCDS8926.1																																																																																				0.542	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		6	470	0	0	0	1	0	6	470					A	57327752	G	A	57327752	2	1	117	1	0	0	0	0	0	0	0	1	14024	1074	38	1		1	SDR9C7	12	57327752	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	31929468	57327752	76524143	49	37520											
DGKH	160851	broad.mit.edu	37	chr13	42761256	42761256	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgacaaaaccttggaaaatgCcgttgtagctgatgccgtgg	12	8	0	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr13:42761256C>T	ENST00000337343.4	+	14	1631	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	DGKH_ENST00000261491.5_Missense_Mutation_p.A537V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000379274.2_Missense_Mutation_p.A401V|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V|DGKH_ENST00000540693.1_Missense_Mutation_p.A537V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	537					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTGGAAAATGCCGTTGTAGCT	0.418																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1201-1203)gCc>gTc		diacylglycerol kinase, eta							123	134	130					13																	42761256		2203	4300	6503	SO:0001583	missense	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42761256C>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1610C>T	13.37:g.42761256C>T	ENSP00000337572:p.Ala537Val					DGKH_ENST00000261491.4_Missense_Mutation_p.A537V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.A537V|DGKH_ENST00000538674.1_Missense_Mutation_p.A292V|DGKH_ENST00000536612.1_Missense_Mutation_p.A401V|DGKH_ENST00000337343.4_Missense_Mutation_p.A537V	p.A401V			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	14	1631	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	537			DAGKc.		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	c.1202C>T	CCDS9381.1	.	.	.	.	.	.	.	.	.	.	C	8.110	0.778622	0.16120	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.80033	-1.33;-1.16;-1.33;-1.33;-1.33;1.91	5.81	4.93	0.64822	.	0.765669	0.12250	N	0.485721	T	0.76162	0.3949	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.20261	0.003;0.003;0.043;0.001	B;B;B;B	0.23852	0.008;0.006;0.049;0.004	T	0.65348	-0.6190	10	0.45353	T	0.12	.	18.5402	0.91024	0.0:0.8731:0.1269:0.0	.	292;401;537;537	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	537;537;537;401;401;292	ENSP00000440823:A537V;ENSP00000337572:A537V;ENSP00000261491:A537V;ENSP00000368576:A401V;ENSP00000445114:A401V;ENSP00000441308:A292V	ENSP00000261491:A537V	A	+	2	0	DGKH	41659256	0.017000	0.18338	0.007000	0.13788	0.053000	0.15095	2.639000	0.46570	2.746000	0.94184	0.655000	0.94253	GCC		0.418	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		5	413	0	0	0	1	0	5	413					T	42761256	C	T	42761256	3	4	117	1	0	0	0	0	1	0	0	0	4486	739	26	2	1664	2	DGKH	13	42761256	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08		42761256	72408622	50	37521											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255452	25255452	+	Silent	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gttcggcactgttctggtgtCcggaggaagccgcactctcg	14	12	2	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:25255452C>G	ENST00000328086.7	-	6	2438	c.1635G>C	c.(1633-1635)cgG>cgC	p.R545R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	545					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)		GTTCTGGTGTCCGGAGGAAGC	0.517																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1633-1635)cgG>cgC		zinc finger with KRAB and SCAN domains 2							79	78	78					16																	25255452		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255452C>G	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.1635G>C	16.37:g.25255452C>G							p.R545R	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2438	-			545					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.1635G>C	CCDS32410.1																																																																																				0.517	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		14	520	0	0	0	1	0	14	520					G	25255452	C	G	25255452	2	3	117	1	0	0	0	0	0	0	0	1	17740	842	30	5		5	ZKSCAN2	16	25255452	Silent	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08		25255452	65099301	51	37522											
RNF40	9810	broad.mit.edu	37	chr16	30773901	30773902	+	Frame_Shift_Ins	INS	-	-	C													aacaaacgcgccgccggcgaINScgggggctcagggcccccgg							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:30773901_30773902insC	ENST00000324685.6	+	2	470_471	c.35_36insC	c.(34-39)gacgggfs	p.G13fs	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Frame_Shift_Ins_p.G13fs|RNF40_ENST00000402121.3_Frame_Shift_Ins_p.G13fs|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000563683.1_Frame_Shift_Ins_p.G13fs|C16orf93_ENST00000543610.1_5'UTR	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	13					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCGCCGGCGACGGGGGCTCAG	0.653																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(34-36)gggfs		ring finger protein 40, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30773901_30773902insC	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.36dupC	16.37:g.30773902_30773902dupC	ENSP00000325677:p.Gly13fs					RNF40_ENST00000402121.3_Frame_Shift_Ins_p.G12fs|RNF40_ENST00000563683.1_Frame_Shift_Ins_p.G12fs|RNF40_ENST00000357890.5_Frame_Shift_Ins_p.G12fs|C16orf93_ENST00000543610.1_5'UTR	p.G12fs	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		2	470_471	+			12					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Frame_Shift_Ins	INS	ENST00000324685.6	37	c.35_36insC	CCDS10691.1																																																																																				0.653	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		7	88						7	88	---	---	---	---	C	30773902	-	C	30773901	7	5	117	1	0	1	1	0	0	0	0	0	13543	275	10	0	37	0	RNF40	16	30773901	Frame_Shift_Ins	INS	-	TCGA-XD-AAUG-01A-61D-A40W-08	5518449	30773901	59580852	52	37523											
PRSS54	221191	broad.mit.edu	37	chr16	58324907	58324907	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctgaggacccagaactcgctCaggatgcagccgaaagccag	12	13	1	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:58324907C>A	ENST00000219301.4	-	4	613	c.219G>T	c.(217-219)ctG>ctT	p.L73L	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Silent_p.L73L	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	73	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAACTCGCTCAGGATGCAGC	0.647																																						ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(217-219)ctG>ctT		protease, serine, 54							101	82	88					16																	58324907		2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58324907C>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"Serine peptidases / Serine peptidases"	26336	protein-coding gene	gene with protein product	"cancer/testis antigen 67"					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.219G>T	16.37:g.58324907C>A						PRSS54_ENST00000567164.1_Silent_p.L73L|PRSS54_ENST00000543437.1_Intron	p.L73L	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			4	613	-			73			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.219G>T	CCDS32463.1																																																																																				0.647	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		5	334	1	0	0.014758	1	0.0150493	5	334					A	58324907	C	A	58324907	2	1	117	1	0	0	0	0	0	0	0	1	12680	813	29	3		3	PRSS54	16	58324907	Silent	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	27551006	58324907	32029846	53	37524											
C16orf46	123775	broad.mit.edu	37	chr16	81095470	81095470	+	Frame_Shift_Del	DEL	T	T	-													aaactccttgatttgcagacTttttttctctgctcgaaagt							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr16:81095470delT	ENST00000299578.5	-	4	719	c.484delA	c.(484-486)agtfs	p.S162fs	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Frame_Shift_Del_p.S162fs|C16orf46_ENST00000444657.3_5'UTR	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	162						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATTTGCAGACTTTTTTTCTCT	0.572																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(484-486)gtfs		chromosome 16 open reading frame 46							146	155	152					16																	81095470		2202	4300	6502	SO:0001589	frameshift_variant	123775							g.chr16:81095470delT	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.484delA	16.37:g.81095470delT	ENSP00000299578:p.Ser162fs					RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Frame_Shift_Del_p.S162fs	p.S162fs	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	599	-			162					Q96MA7	Frame_Shift_Del	DEL	ENST00000299578.5	37	c.484delA	CCDS10932.1																																																																																				0.572	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		7	1420						7	1420	---	---	---	---	-	81095470	T	-	81095470	7	5	117	1	0	1	0	1	0	0	0	0	1820	1609	56	0	735	0	C16orf46	16	81095470	Frame_Shift_Del	DEL	T	TCGA-XD-AAUG-01A-61D-A40W-08	22770563	81095470	9259283	54	37525											
TP53	7157	broad.mit.edu	37	chr17	7578469	7578469	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccatggcgcggacgcgggtgCcgggcgggggtgtggaatca	21	10	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:7578469C>A	ENST00000269305.4	-	5	650	c.461G>T	c.(460-462)gGc>gTc	p.G154V	TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000420246.2_Missense_Mutation_p.G154V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G154V|TP53_ENST00000445888.2_Missense_Mutation_p.G154V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		98	Substitution - Missense(62)|Deletion - Frameshift(14)|Whole gene deletion(8)|Insertion - In frame(5)|Unknown(5)|Deletion - In frame(4)	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)	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)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951223	TP53	M		c.(460-462)gGc>gTc	Other conserved DNA damage response genes	tumor protein p53							50	51	51					17																	7578469		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578469C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.461G>T	17.37:g.7578469C>A	ENSP00000269305:p.Gly154Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G154V|TP53_ENST00000269305.4_Missense_Mutation_p.G154V|TP53_ENST00000359597.4_Missense_Mutation_p.G154V|TP53_ENST00000413465.2_Missense_Mutation_p.G154V|TP53_ENST00000455263.2_Missense_Mutation_p.G154V	p.G154V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	593	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	154		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).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.461G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456171	0.43634	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.59	3.61	0.41365	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.158634	0.56097	D	0.000036	D	0.99859	0.9934	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.991;0.998;0.999;0.998;1.0	D;D;P;D;D;D;D	0.79108	0.987;0.984;0.848;0.983;0.992;0.988;0.988	D	0.97051	0.9764	10	0.87932	D	0	-10.7989	10.689	0.45860	0.0:0.8432:0.0:0.1568	.	115;154;154;61;154;154;154	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	154;154;154;154;154;154;143;61;22;61;22;154	ENSP00000410739:G154V;ENSP00000352610:G154V;ENSP00000269305:G154V;ENSP00000398846:G154V;ENSP00000391127:G154V;ENSP00000391478:G154V;ENSP00000425104:G22V;ENSP00000423862:G61V;ENSP00000424104:G154V	ENSP00000269305:G154V	G	-	2	0	TP53	7519194	0.990000	0.36364	0.002000	0.10522	0.006000	0.05464	4.029000	0.57253	0.850000	0.35239	-0.140000	0.14226	GGC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	250	1	0	1.02788e-11	1	1.18016e-11	15	250					A	7578469	C	A	7578469	3	1	117	1	0	0	0	0	1	0	0	0	16434	739	26	3	837	3	TP53	17	7578469	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08		7578469	73616741	55	37526											
GIT1	28964	broad.mit.edu	37	chr17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-													gcgtagtgagctcgtccccaGgggggcccccaaagggcttc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)cctfs	p.P523fs	GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTCGTCCCCAGGGGGGCCCCC	0.652																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1567-1569)ctfs		G protein-coupled receptor kinase interacting ArfGAP 1							63	71	68					17																	27903281		2203	4300	6503	SO:0001589	frameshift_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903281delG	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4272	protein-coding gene	gene with protein product		608434	"G protein-coupled receptor kinase interactor 1"			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1568delC	17.37:g.27903281delG	ENSP00000225394:p.Pro523fs					GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|RP11-68I3.2_ENST00000581474.1_RNA	p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1816	-			523					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Frame_Shift_Del	DEL	ENST00000225394.3	37	c.1568delC	CCDS11250.1																																																																																				0.652	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		7	766						7	766	---	---	---	---	-	27903281	G	-	27903281	7	5	117	1	0	1	0	1	0	0	0	0	6425	1000	35	0	745	0	GIT1	17	27903281	Frame_Shift_Del	DEL	G	TCGA-XD-AAUG-01A-61D-A40W-08	20324812	27903281	53291929	56	37527											
AMAC1	146861	broad.mit.edu	37	chr17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcacaacccctgccGccacgatgtcagaaggtgcc	10	17	1	1	rs375936006		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142	127	132					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	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.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		8	444	0	0	0	1	0	8	444					C	33520392	G	C	33520392	3	2	117	1	0	0	0	0	1	0	0	0	559	1087	38	5	85	5	AMAC1	17	33520392	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	5617111	33520392	47674818	57	37528											
COL1A1	1277	broad.mit.edu	37	chr17	48273888	48273888	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccagggctgccaggctcaCcctgtagatcagagaataat	10	12	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:48273888C>T	ENST00000225964.5	-	13	978	c.860G>A	c.(859-861)gGt>gAt	p.G287D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	287	Triple-helical region.		G -> S (in OI1). {ECO:0000269|PubMed:17875077}.		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)	GCCAGGCTCACCCTGTAGATC	0.547			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"collagen, type I, alpha 1"	yes	Osteogenesis imperfecta	M	"PDGFB, USP6"		"dermatofibrosarcoma protuberans, aneurysmal bone cyst "	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.e13-1		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						140	139	139					17																	48273888		2203	4300	6503	SO:0001630	splice_region_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48273888C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"Collagens"	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.859-1G>A	17.37:g.48273888C>T							p.G287_splice	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			13	978	-			287		G -> S (in OI1).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Splice_Site	SNP	ENST00000225964.5	37	c.858_splice	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951442	0.73787	.	.	ENSG00000108821	ENST00000225964	D	0.99353	-5.77	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.98883	4.36	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.97059	0.9769	10	0.87932	D	0	.	17.1838	0.86861	0.0:1.0:0.0:0.0	.	287	P02452	CO1A1_HUMAN	D	287	ENSP00000225964:G287D	ENSP00000225964:G287D	G	-	2	0	COL1A1	45628887	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.001000	0.70685	2.353000	0.79882	0.491000	0.48974	GGT		0.547	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		Missense_Mutation	43	624	0	0	0	1	0	43	624					T	48273888	C	T	48273888	5	4	117	1	0	0	0	0	0	0	1	0	3686	521	18	2	3690	2	COL1A1	17	48273888	Splice_Site	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	14753496	48273888	32921322	58	37529											
SCN4A	6329	broad.mit.edu	37	chr17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtagtagaacttgccgGcaaacaggttgacacccatg	11	10	0	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					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)	p.A1183V(1)		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)	GAACTTGCCGGCAAACAGGTT	0.542																																						ENST00000435607.1																			1	Substitution - Missense(1)	p.A1183V(1)	lung(1)	breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3547-3549)gCc>gTc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						250	250	250					17																	62022892		2201	4300	6501	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022892G>A	U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3548C>T	17.37:g.62022892G>A	ENSP00000396320:p.Ala1183Val					SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			19	3624	-			1183					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.3548C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018393	0.93404	.	.	ENSG00000007314	ENST00000435607	D	0.97529	-4.42	3.91	3.91	0.45181	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99474	1.0946	10	0.87932	D	0	.	15.4523	0.75282	0.0:0.0:1.0:0.0	.	1183	P35499	SCN4A_HUMAN	V	1183	ENSP00000396320:A1183V	ENSP00000396320:A1183V	A	-	2	0	SCN4A	59376624	1.000000	0.71417	0.990000	0.47175	0.939000	0.58152	9.522000	0.98032	2.196000	0.70406	0.561000	0.74099	GCC		0.542	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		8	1103	0	0	0	1	0	8	1103					A	62022892	G	A	62022892	3	1	117	1	0	0	0	0	1	0	0	0	13970	1203	42	2	1986	2	SCN4A	17	62022892	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	13749004	62022892	19172318	59	37530											
GNA13	10672	broad.mit.edu	37	chr17	63052667	63052667	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctcgtcagcaggcagccgggGaagcacacggacagcacgga	15	13	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:63052667G>A	ENST00000439174.2	-	1	290	c.45C>T	c.(43-45)ttC>ttT	p.F15F	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	15					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						GGCAGCCGGGGAAGCACACGG	0.682																																						ENST00000439174.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						c.(43-45)ttC>ttT		guanine nucleotide binding protein (G protein), alpha 13							85	83	84					17																	63052667		2203	4300	6503	SO:0001819	synonymous_variant	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63052667G>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.45C>T	17.37:g.63052667G>A							p.F15F	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN			1	290	-			15					B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	c.45C>T	CCDS11661.1																																																																																				0.682	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		17	552	0	0	0	1	0	17	552					A	63052667	G	A	63052667	2	1	117	1	0	0	0	0	0	0	0	1	6530	1165	41	2		2	GNA13	17	63052667	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	1029775	63052667	18142543	60	37531											
SDK2	54549	broad.mit.edu	37	chr17	71390417	71390417	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcgcaccagcatgctgctGgaggtggtggccagtgcaga	16	11	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:71390417G>T	ENST00000392650.3	-	26	3639	c.3639C>A	c.(3637-3639)tcC>tcA	p.S1213S	SDK2_ENST00000388726.3_Silent_p.S1213S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1213	Fibronectin type-III 7. {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						GCATGCTGCTGGAGGTGGTGG	0.642																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(3637-3639)tcC>tcA		sidekick cell adhesion molecule 2							48	42	44					17																	71390417		2203	4300	6503	SO:0001819	synonymous_variant	54549				cell adhesion	integral to membrane		g.chr17:71390417G>T	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.3639C>A	17.37:g.71390417G>T						SDK2_ENST00000388726.3_Silent_p.S1213S	p.S1213S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			26	3639	-			1213			Fibronectin type-III 7.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	c.3639C>A	CCDS45769.1																																																																																				0.642	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	100	1	0	1	1	1	4	100					T	71390417	G	T	71390417	2	4	117	1	0	0	0	0	0	0	0	1	14019	1335	47	3		3	SDK2	17	71390417	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	8337750	71390417	9804793	61	37532											
OTOP2	92736	broad.mit.edu	37	chr17	72926595	72926595	+	Frame_Shift_Del	DEL	T	T	-													tcagcctcttccgggagaccTtttttgctggcccggttctg							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr17:72926595delT	ENST00000580223.1	+	5	895	c.865delT	c.(865-867)tttfs	p.F290fs	OTOP2_ENST00000331427.4_Frame_Shift_Del_p.F290fs			Q7RTS6	OTOP2_HUMAN	otopetrin 2	290						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)					CCGGGAGACCTTTTTTGCTGG	0.607																																						ENST00000331427.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(865-867)ttfs		otopetrin 2				0,4264		0,0,2132	89	85	86			0.2	0.7	17		87	1,8253		0,1,4126	no	frameshift	OTOP2	NM_178160.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080			72926595	1,12517	2203	4300	6503	SO:0001589	frameshift_variant	92736					integral to membrane		g.chr17:72926595delT	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.865delT	17.37:g.72926595delT	ENSP00000463837:p.Phe290fs					OTOP2_ENST00000580223.1_Frame_Shift_Del_p.F290fs	p.F290fs	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN			6	957	+	all_lung(278;0.172)|Lung NSC(278;0.207)		290						Frame_Shift_Del	DEL	ENST00000580223.1	37	c.865delT	CCDS11708.1																																																																																				0.607	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		8	605						8	605	---	---	---	---	-	72926595	T	-	72926595	7	5	117	1	0	1	0	1	0	0	0	0	11348	1609	56	0	883	0	OTOP2	17	72926595	Frame_Shift_Del	DEL	T	TCGA-XD-AAUG-01A-61D-A40W-08	1536178	72926595	8268615	62	37533											
ME2	4200	broad.mit.edu	37	chr18	48447031	48447031	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatctttgtttttcttacagGgacagctgcagtagctctag	9	8	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447031G>A	ENST00000321341.5	+	9	1117	c.845G>A	c.(844-846)gGg>gAg	p.G282E	ME2_ENST00000382927.3_Splice_Site_p.G282E	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	282					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)		TTTCTTACAGGGACAGCTGCA	0.348																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.e9-1		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						50	53	52					18																	48447031		2202	4297	6499	SO:0001630	splice_region_variant	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447031G>A	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.845-1G>A	18.37:g.48447031G>A						ME2_ENST00000382927.3_Splice_Site_p.G282_splice	p.G282_splice	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	9	1117	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	282					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Splice_Site	SNP	ENST00000321341.5	37	c.844_splice	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918676	0.73098	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.78246	-1.16;-1.16	5.73	5.73	0.89815	Malic enzyme, conserved site (1);Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94857	0.8018	9	.	.	.	.	18.6849	0.91559	0.0:0.0:1.0:0.0	.	282;282	Q9BWL6;P23368	.;MAOM_HUMAN	E	282	ENSP00000321070:G282E;ENSP00000372384:G282E	.	G	+	2	0	ME2	46701029	1.000000	0.71417	0.996000	0.52242	0.392000	0.30506	9.833000	0.99426	2.719000	0.93026	0.637000	0.83480	GGG		0.348	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396	Missense_Mutation	19	327	0	0	0	1	0	19	327					A	48447031	G	A	48447031	5	1	117	1	0	0	0	0	0	0	1	0	9459	1246	43	2	875	2	ME2	18	48447031	Splice_Site	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		48447031	29630217	63	37534											
ME2	4200	broad.mit.edu	37	chr18	48447459	48447459	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaggctgctcttggaattGcaaatcttatagttatgtct	8	7	3	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr18:48447459G>A	ENST00000321341.5	+	10	1230	c.958G>A	c.(958-960)Gca>Aca	p.A320T	ME2_ENST00000382927.3_Missense_Mutation_p.A320T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	320					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)		TCTTGGAATTGCAAATCTTAT	0.313																																						ENST00000321341.5																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23						c.(958-960)Gca>Aca		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						52	54	53					18																	48447459		2203	4297	6500	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48447459G>A	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.958G>A	18.37:g.48447459G>A	ENSP00000321070:p.Ala320Thr					ME2_ENST00000382927.3_Missense_Mutation_p.A320T	p.A320T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	10	1230	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	320					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.958G>A	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728962	0.89390	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34667	1.35;1.35	5.92	5.04	0.67666	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.098582	0.64402	D	0.000001	T	0.60996	0.2312	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.926;0.999	T	0.66360	-0.5943	10	0.87932	D	0	-21.3568	15.3065	0.73995	0.0:0.0:0.8586:0.1414	.	320;320	Q9BWL6;P23368	.;MAOM_HUMAN	T	320	ENSP00000321070:A320T;ENSP00000372384:A320T	ENSP00000321070:A320T	A	+	1	0	ME2	46701457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.841000	0.99482	1.487000	0.48415	0.650000	0.86243	GCA		0.313	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		10	182	0	0	0	1	0	10	182					A	48447459	G	A	48447459	3	1	117	1	0	0	0	0	1	0	0	0	9459	1319	46	2	992	2	ME2	18	48447459	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	428	48447459	29629789	64	37535											
MBD3	53615	broad.mit.edu	37	chr19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-													atctccgggtccgggtcgggCtcctcctcctcctcctcctc					rs371220154		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000585967.1_5'Flank|AC005943.5_ENST00000588960.1_lincRNA|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|UQCR11_ENST00000585937.1_3'UTR	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)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	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_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		7	136						7	136	---	---	---	---	-	1578374	CTC	-	1578372	7	5	117	1	0	1	0	1	0	0	0	0	9385	796	28	0	36	0	MBD3	19	1578372	In_Frame_Del	DEL	CTC	TCGA-XD-AAUG-01A-61D-A40W-08		1578372	57550611	65	37536											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	8	11	0	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					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						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189	199	196					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		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.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		8	960	0	0	0	1	0	8	960					C	12155673	A	C	12155673	3	2	117	1	0	0	0	0	1	0	0	0	18249	40	2	4	1056	4	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08	10577301	12155673	46973310	66	37537											
CC2D1A	54862	broad.mit.edu	37	chr19	14034184	14034184	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggacgactttgccctGgtccagcggcctggcccggg	14	14	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:14034184G>T	ENST00000318003.7	+	15	1921	c.1680G>T	c.(1678-1680)ctG>ctT	p.L560L	CC2D1A_ENST00000589606.1_Silent_p.L560L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	560					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)			ACTTTGCCCTGGTCCAGCGGC	0.687																																						ENST00000318003.7																			0				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						c.(1678-1680)ctG>ctT		coiled-coil and C2 domain containing 1A							55	61	59					19																	14034184		1982	4140	6122	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14034184G>T	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.1680G>T	19.37:g.14034184G>T						CC2D1A_ENST00000589606.1_Silent_p.L560L	p.L560L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		15	1921	+			560					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.1680G>T	CCDS42512.1																																																																																				0.687	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		6	453	1	0	0.00116845	1	0.00120739	6	453					T	14034184	G	T	14034184	2	4	117	1	0	0	0	0	0	0	0	1	2733	1335	47	3		3	CC2D1A	19	14034184	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	1878511	14034184	45094799	67	37538											
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atgtctttattcctcagactAtagataaaggggttcagcat	8	7	3	2	rs200531878		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478																																						ENST00000322301.3																			2	Substitution - coding silent(2)	p.Y290Y(2)	kidney(2)	breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(868-870)taT>taC		olfactory receptor, family 7, subfamily A, member 5							74	72	72					19																	14938184		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938184A>G	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"GPCR / Class A : Olfactory receptors"	8368	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily A, member 5 pseudogene"				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.870T>C	19.37:g.14938184A>G						OR7A5_ENST00000594432.1_Silent_p.Y290Y|OR7A5_ENST00000601611.1_Intron	p.Y290Y			Q15622	OR7A5_HUMAN			2	957	-			290					B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.870T>C	CCDS12318.1																																																																																				0.478	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		6	357	0	0	0	1	0	6	357					G	14938184	A	G	14938184	2	3	117	1	0	0	0	0	0	0	0	1	11258	456	16	4		4	OR7A5	19	14938184	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08	904000	14938184	44190799	68	37539											
ANO8	57719	broad.mit.edu	37	chr19	17436170	17436170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcgctgctgctgctggtagCgatgctgggcctggcgctcg	17	12	0	0	rs578235436		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:17436170C>T	ENST00000159087.4	-	17	2845	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	896					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTGCTGGTAGCGATGCTGGGC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15385	0.0		0.0	False		,,,				2504	0.0					ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2686-2688)cGc>cAc		anoctamin 8							19	22	21					19																	17436170		2181	4262	6443	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17436170C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2687G>A	19.37:g.17436170C>T	ENSP00000159087:p.Arg896His						p.R896H	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			17	2845	-			896					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2687G>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	8.172	0.791995	0.16258	.	.	ENSG00000074855	ENST00000159087	T	0.60299	0.2	4.7	3.6	0.41247	.	0.246536	0.41294	N	0.000902	T	0.21022	0.0506	N	0.01352	-0.895	0.35734	D	0.818185	B	0.10296	0.003	B	0.04013	0.001	T	0.17107	-1.0380	10	0.06757	T	0.87	.	5.7143	0.17952	0.0:0.6669:0.0:0.3331	.	896	Q9HCE9	ANO8_HUMAN	H	896	ENSP00000159087:R896H	ENSP00000159087:R896H	R	-	2	0	ANO8	17297170	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	2.117000	0.41939	0.891000	0.36235	0.491000	0.48974	CGC		0.647	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		5	180	0	0	0	1	0	5	180					T	17436170	C	T	17436170	3	4	117	1	0	0	0	0	1	0	0	0	703	768	27	1	1019	1	ANO8	19	17436170	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	2497986	17436170	41692813	69	37540											
ZNF493	284443	broad.mit.edu	37	chr19	21606690	21606690	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcccacagatgtgaagaatGtggcaaagcttataaggagt	11	6	0	3			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:21606690G>A	ENST00000355504.4	+	2	1111	c.845G>A	c.(844-846)tGt>tAt	p.C282Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.C410Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	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)|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						TGTGAAGAATGTGGCAAAGCT	0.358																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1228-1230)tGt>tAt		zinc finger protein 493							36	38	37					19																	21606690		2200	4297	6497	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606690G>A	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.845G>A	19.37:g.21606690G>A	ENSP00000347691:p.Cys282Tyr					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C282Y	p.C410Y	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1338	+			282					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1229G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.10	1.540592	0.27563	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	D;D	0.85861	-2.04;-2.04	1.03	-2.07	0.07276	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.87838	0.6278	H	0.95712	3.71	0.80722	D	1	B;B	0.23937	0.094;0.015	B;B	0.31614	0.133;0.008	T	0.72880	-0.4158	9	0.87932	D	0	.	6.3552	0.21397	0.294:0.0:0.706:0.0	.	282;410	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	410;282	ENSP00000376110:C410Y;ENSP00000347691:C282Y	ENSP00000347691:C282Y	C	+	2	0	ZNF493	21398530	0.999000	0.42202	0.003000	0.11579	0.003000	0.03518	2.844000	0.48246	-1.877000	0.01129	-1.904000	0.00526	TGT		0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		6	301	0	0	0	1	0	6	301					A	21606690	G	A	21606690	3	1	117	1	0	0	0	0	1	0	0	0	17997	1377	48	2	1306	2	ZNF493	19	21606690	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	4170520	21606690	37522293	70	37541											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			9	1227						9	1227	---	---	---	---	-	36255949	CTC	-	36255947	7	5	117	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-XD-AAUG-01A-61D-A40W-08	14649257	36255947	22873036	71	37542											
ZNF420	147923	broad.mit.edu	37	chr19	37619591	37619591	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caatgtaaggaatgtgggaaAgcctttattcgtggttcaca	11	6	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:37619591A>G	ENST00000337995.3	+	5	1913	c.1698A>G	c.(1696-1698)aaA>aaG	p.K566K	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	566					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)			AATGTGGGAAAGCCTTTATTC	0.428																																						ENST00000337995.3																			0				breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(1696-1698)aaA>aaG		zinc finger protein 420							98	92	94					19																	37619591		2203	4300	6503	SO:0001819	synonymous_variant	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37619591A>G	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.1698A>G	19.37:g.37619591A>G						ZNF420_ENST00000304239.7_Intron|ZNF420_ENST00000586540.1_3'UTR|CTC-454I21.4_ENST00000587645.1_RNA|ZNF585A_ENST00000588723.1_Intron	p.K566K	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1913	+			566					B2RDY6|Q96ML5	Silent	SNP	ENST00000337995.3	37	c.1698A>G	CCDS12498.1																																																																																				0.428	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		6	312	0	0	0	1	0	6	312					G	37619591	A	G	37619591	2	3	117	1	0	0	0	0	0	0	0	1	17950	69	3	4		4	ZNF420	19	37619591	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08	1363644	37619591	21509392	72	37543											
ZNF222	7673	broad.mit.edu	37	chr19	44536890	44536890	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agggctacattagtaagtcaGgtcttgacttccaccataga	9	9	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:44536890G>A	ENST00000187879.8	+	4	1225	c.1063G>A	c.(1063-1065)Ggt>Agt	p.G355S	ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	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)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TAGTAAGTCAGGTCTTGACTT	0.428																																						ENST00000187879.8																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1063-1065)Ggt>Agt		zinc finger protein 222							103	100	101					19																	44536890		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536890G>A	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.1063G>A	19.37:g.44536890G>A	ENSP00000187879:p.Gly355Ser					ZNF222_ENST00000391960.3_Missense_Mutation_p.G395S|ZNF223_ENST00000591793.1_Intron	p.G355S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN			4	1225	+		Prostate(69;0.0435)	355					G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.1063G>A	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	G	5.333	0.246710	0.10130	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.07216	3.21;3.21	2.79	-5.58	0.02512	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	N	0.00599	-1.345	0.09310	N	1	P;P	0.41345	0.746;0.571	P;B	0.44518	0.452;0.403	T	0.09250	-1.0683	9	0.02654	T	1	.	2.5051	0.04643	0.1309:0.3914:0.2764:0.2013	.	395;355	G5E9B9;Q9UK12	.;ZN222_HUMAN	S	395;355;301	ENSP00000375822:G395S;ENSP00000187879:G355S	ENSP00000187879:G355S	G	+	1	0	ZNF222	49228730	0.000000	0.05858	0.000000	0.03702	0.761000	0.43186	-9.786000	0.00009	-2.800000	0.00352	0.205000	0.17691	GGT		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			6	448	0	0	0	1	0	6	448					A	44536890	G	A	44536890	3	1	117	1	0	0	0	0	1	0	0	0	17829	1000	35	2	1216	2	ZNF222	19	44536890	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	6917299	44536890	14592093	73	37544											
FPR1	2357	broad.mit.edu	37	chr19	52249834	52249834	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accttcttggccaggctcacGgtgcggtggttctgggtcca	14	12	3	0	rs151277630		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:52249834G>A	ENST00000595042.1	-	3	555	c.414C>T	c.(412-414)acC>acT	p.T138T	FPR1_ENST00000304748.4_Silent_p.T138T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	138					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)	CCAGGCTCACGGTGCGGTGGT	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22077	0.0		0.0	False		,,,				2504	0.0					ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(412-414)acC>acT		formyl peptide receptor 1	Nedocromil(DB00716)	G	,	1,4405		0,1,2202	80	69	73		414,414	-7.3	0	19	dbSNP_134	73	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	FPR1	NM_001193306.1,NM_002029.3	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	138/351,138/351	52249834	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249834G>A	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.414C>T	19.37:g.52249834G>A						FPR1_ENST00000304748.4_Silent_p.T138T	p.T138T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	555	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	138					Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	c.414C>T	CCDS12839.1																																																																																				0.547	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		20	282	0	0	0	1	0	20	282					A	52249834	G	A	52249834	2	1	117	1	0	0	0	0	0	0	0	1	6065	1103	39	1		1	FPR1	19	52249834	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	7712944	52249834	6879149	74	37545											
ZNF552	79818	broad.mit.edu	37	chr19	58319468	58319468	+	Frame_Shift_Del	DEL	T	T	-													agtgaagagatttgcctaaaTtttttttcacattcactgca							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr19:58319468delT	ENST00000391701.1	-	3	1333	c.1164delA	c.(1162-1164)aaafs	p.K388fs	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TTTGCCTAAATTTTTTTTCAC	0.413																																						ENST00000391701.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(1162-1164)aafs		zinc finger protein 552				4,4260		1,2,2129	147	143	144			2	0	19		144	2,8252		0,2,4125	no	frameshift	ZNF552	NM_024762.3		1,4,6254	A1A1,A1R,RR		0.0242,0.0938,0.0479			58319468	6,12512	2203	4300	6503	SO:0001589	frameshift_variant	79818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58319468delT	AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.1164delA	19.37:g.58319468delT	ENSP00000375582:p.Lys388fs					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	p.K388fs	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	3	1333	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	388					B3KUE9|Q6P5A6	Frame_Shift_Del	DEL	ENST00000391701.1	37	c.1164delA	CCDS12963.1																																																																																				0.413	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466829.1	NM_024762		8	524						8	524	---	---	---	---	-	58319468	T	-	58319468	7	5	117	1	0	1	0	1	0	0	0	0	18037	1490	52	0	63	0	ZNF552	19	58319468	Frame_Shift_Del	DEL	T	TCGA-XD-AAUG-01A-61D-A40W-08	6069634	58319468	809515	75	37546											
C20orf72	92667	broad.mit.edu	37	chr20	17956442	17956442	+	Frame_Shift_Del	DEL	C	C	-													tctggttacattgaaagtgtCcagcatattctgaaagatgt							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:17956442delC	ENST00000377710.5	+	3	915	c.627delC	c.(625-627)gtcfs	p.V209fs	MGME1_ENST00000377709.1_Frame_Shift_Del_p.V129fs|MGME1_ENST00000377704.4_Intron|MGME1_ENST00000467391.1_Intron	NM_052865.2	NP_443097.1			mitochondrial genome maintenance exonuclease 1																		TTGAAAGTGTCCAGCATATTC	0.438																																						ENST00000377710.5																			0											c.(625-627)gtfs		mitochondrial genome maintenance exonuclease 1							110	105	107					20																	17956442		2203	4300	6503	SO:0001589	frameshift_variant	92667							g.chr20:17956442delC		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"chromosome 20 open reading frame 72"	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377710.5:c.627delC	20.37:g.17956442delC	ENSP00000366939:p.Val209fs					MGME1_ENST00000377709.1_Frame_Shift_Del_p.V129fs|MGME1_ENST00000467391.1_Intron|MGME1_ENST00000377704.4_Intron	p.V209fs	NM_052865.2	NP_443097.1					3	915	+									Frame_Shift_Del	DEL	ENST00000377710.5	37	c.627delC	CCDS13131.1																																																																																				0.438	MGME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078139.1	NM_052865		23	337						23	337	---	---	---	---	-	17956442	C	-	17956442	7	5	117	1	0	1	0	1	0	0	0	0	2125	842	30	0	633	0	C20orf72	20	17956442	Frame_Shift_Del	DEL	C	TCGA-XD-AAUG-01A-61D-A40W-08		17956442	45069078	76	37547											
CST1	1469	broad.mit.edu	37	chr20	23729740	23729742	+	In_Frame_Del	DEL	GAA	GAA	-													gtgcggcccacctctacgtcGaagaagtaattcaccccccc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:23729740_23729742delGAA	ENST00000304749.2	-	2	323_325	c.253_255delTTC	c.(253-255)ttcdel	p.F85del	CST1_ENST00000398402.1_In_Frame_Del_p.F85del	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	85					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)					CCTCTACGTCGAAGAAGTAATTC	0.547																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(253-255)del		cystatin SN																																				SO:0001651	inframe_deletion	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729740_23729742delGAA	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.253_255delTTC	20.37:g.23729743_23729745delGAA	ENSP00000305731:p.Phe85del					CST1_ENST00000398402.1_In_Frame_Del_p.F85del	p.F85del	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN			2	323_325	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		85					Q96LE6|Q9UCQ6	In_Frame_Del	DEL	ENST00000304749.2	37	c.253_255delTTC	CCDS13160.1																																																																																				0.547	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		32	782						32	782	---	---	---	---	-	23729742	GAA	-	23729740	7	5	117	1	0	1	0	1	0	0	0	0	3981	1049	37	0	178	0	CST1	20	23729740	In_Frame_Del	DEL	GAA	TCGA-XD-AAUG-01A-61D-A40W-08	5773298	23729740	39295780	77	37548											
FOXS1	2307	broad.mit.edu	37	chr20	30432696	30432696	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agccggcaggaaagccaaacGctgggcatgaggaagatgag	16	8	0	3			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:30432696G>T	ENST00000375978.3	-	1	724	c.650C>A	c.(649-651)gCg>gAg	p.A217E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	217					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAAGCCAAACGCTGGGCATGA	0.617																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(649-651)gCg>gAg		forkhead box S1							45	45	45					20																	30432696		2203	4300	6503	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432696G>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.650C>A	20.37:g.30432696G>T	ENSP00000365145:p.Ala217Glu						p.A217E	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	724	-			217					Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.650C>A	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	8.593	0.884991	0.17540	.	.	ENSG00000179772	ENST00000375978	D	0.93133	-3.17	4.54	2.6	0.31112	.	0.701110	0.12224	N	0.488074	D	0.90765	0.7101	L	0.27053	0.805	0.22762	N	0.998769	P	0.50710	0.938	P	0.50970	0.655	T	0.82468	-0.0442	10	0.56958	D	0.05	.	9.7513	0.40477	0.1708:0.0:0.8292:0.0	.	217	O43638	FOXS1_HUMAN	E	217	ENSP00000365145:A217E	ENSP00000365145:A217E	A	-	2	0	FOXS1	29896357	0.702000	0.27816	0.396000	0.26296	0.110000	0.19582	1.762000	0.38451	0.554000	0.29061	-1.252000	0.01501	GCG		0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		20	241	1	0	1.15919e-05	1	1.23913e-05	20	241					T	30432696	G	T	30432696	3	4	117	1	0	0	0	0	1	0	0	0	6062	1087	38	3	346	3	FOXS1	20	30432696	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	6702956	30432696	32592824	78	37549											
MYT1	4661	broad.mit.edu	37	chr20	62839389	62839389	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaagaggaagaggaAgaggaggaggaagaggaaga	20	0	0	7			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr20:62839389A>G	ENST00000328439.1	+	7	1204	c.840A>G	c.(838-840)gaA>gaG	p.E280E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E280E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaagaggaagaggaggagg	0.557																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(838-840)gaA>gaG		myelin transcription factor 1							27	26	26					20																	62839389		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839389A>G	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.840A>G	20.37:g.62839389A>G						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E280E	p.E280E			Q01538	MYT1_HUMAN			7	1204	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		280			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.840A>G	CCDS13558.1																																																																																				0.557	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		10	58	0	0	0	1	0	10	58					G	62839389	A	G	62839389	2	3	117	1	0	0	0	0	0	0	0	1	10147	69	3	4		4	MYT1	20	62839389	Silent	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08	32406693	62839389	186131	79	37550											
HIRA	7290	broad.mit.edu	37	chr22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-													cgcagcactcttctggtccaGctgctgctgctgctgccttc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_ENST00000340170.4_In_Frame_Del_p.Q412del|HIRA_ENST00000541063.1_In_Frame_Del_p.Q368del|HIRA_ENST00000546308.1_In_Frame_Del_p.Q368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1234-1239)ctg>c		histone cell cycle regulator																																				SO:0001651	inframe_deletion	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19373136_19373138delGCT	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.1235_1237delAGC	22.37:g.19373145_19373147delGCT	ENSP00000263208:p.Gln412del					HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del	p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			12	1491_1493	-	Colorectal(54;0.0993)		412			Poly-Gln.		Q05BU9|Q8IXN2	In_Frame_Del	DEL	ENST00000263208.5	37	c.1235_1237delAGC	CCDS13759.1																																																																																				0.581	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		7	304						7	304	---	---	---	---	-	19373138	GCT	-	19373136	7	5	117	1	0	1	0	1	0	0	0	0	7150	962	34	0	1872	0	HIRA	22	19373136	In_Frame_Del	DEL	GCT	TCGA-XD-AAUG-01A-61D-A40W-08		19373136	31931430	80	37551											
ACR	49	broad.mit.edu	37	chr22	51177896	51177896	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctcactgcttcgtcgGcaaaaagtacgtgtagggat	12	9	1	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chr22:51177896G>A	ENST00000216139.5	+	2	315	c.275G>A	c.(274-276)gGc>gAc	p.G92D	AC000036.4_ENST00000449652.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.G92D|AC002056.5_ENST00000532913.1_RNA	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	92	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)		TGCTTCGTCGGCAAAAAGTAC	0.577																																						ENST00000216139.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7						c.(274-276)gGc>gAc		acrosin							83	61	69					22																	51177896		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51177896G>A	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.275G>A	22.37:g.51177896G>A	ENSP00000216139:p.Gly92Asp					ACR_ENST00000529621.1_Missense_Mutation_p.G92D	p.G92D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	2	315	+		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)	92			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.275G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	G	1.906	-0.451991	0.04540	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	D;D	0.88586	-2.4;-2.4	3.9	-7.79	0.01218	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.666060	0.01180	N	0.007063	T	0.69223	0.3087	N	0.05414	-0.055	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.16722	0.007;0.016	T	0.68659	-0.5350	10	0.08179	T	0.78	-0.0143	0.5119	0.00597	0.3086:0.2319:0.2598:0.1997	.	92;92	E9PLV5;P10323	.;ACRO_HUMAN	D	92	ENSP00000216139:G92D;ENSP00000435120:G92D	ENSP00000216139:G92D	G	+	2	0	ACR	49524762	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.692000	0.01918	-2.104000	0.00843	0.462000	0.41574	GGC		0.577	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		4	119	0	0	0	1	0	4	119					A	51177896	G	A	51177896	3	1	117	1	0	0	0	0	1	0	0	0	169	1203	42	2	281	2	ACR	22	51177896	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	31804760	51177896	126670	81	37552											
GPM6B	2824	broad.mit.edu	37	chrX	13801502	13801502	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accattccactgatgcatcgGccacaagcggttgttttaaa	8	11	0	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:13801502G>A	ENST00000356942.5	-	3	828	c.387C>T	c.(385-387)ggC>ggT	p.G129G	GPM6B_ENST00000454189.2_Silent_p.G110G|GPM6B_ENST00000493677.1_Silent_p.G143G|GPM6B_ENST00000316715.4_Silent_p.G169G|GPM6B_ENST00000355135.2_Silent_p.G169G|GPM6B_ENST00000398361.3_Silent_p.G43G	NM_005278.3	NP_005269.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	129					cell differentiation (GO:0030154)|extracellular matrix assembly (GO:0085029)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of serotonin uptake (GO:0051612)|nervous system development (GO:0007399)|ossification (GO:0001503)|positive regulation of bone mineralization (GO:0030501)|protein transport (GO:0015031)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of focal adhesion assembly (GO:0051893)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TGATGCATCGGCCACAAGCGG	0.428																																						ENST00000454189.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						c.(328-330)ggC>ggT		glycoprotein M6B							147	123	131					X																	13801502		2203	4300	6503	SO:0001819	synonymous_variant	2824				cell differentiation|nervous system development	integral to membrane		g.chrX:13801502G>A		CCDS14158.1, CCDS35206.1, CCDS35207.1, CCDS48084.1	Xp22.2	2010-08-03			ENSG00000046653	ENSG00000046653			4461	protein-coding gene	gene with protein product		300051				8661015	Standard	NM_001001995		Approved	M6B, MGC17150, MGC54284	uc004cvw.3	Q13491	OTTHUMG00000021162	ENST00000356942.5:c.387C>T	X.37:g.13801502G>A						GPM6B_ENST00000316715.4_Silent_p.G169G|GPM6B_ENST00000398361.3_Silent_p.G43G|GPM6B_ENST00000355135.2_Silent_p.G169G|GPM6B_ENST00000356942.5_Silent_p.G129G|GPM6B_ENST00000493677.1_Silent_p.G143G	p.G110G	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN			3	457	-			129					O76077|Q86X43|Q8N956	Silent	SNP	ENST00000356942.5	37	c.330C>T	CCDS14158.1																																																																																				0.428	GPM6B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055822.1	NM_001001995		6	677	0	0	0	1	0	6	677					A	13801502	G	A	13801502	2	1	117	1	0	0	0	0	0	0	0	1	6645	1190	42	2		2	GPM6B	23	13801502	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08		13801502	141469058	82	37553											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	13	12	2	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507																																						ENST00000379034.1																			1	Substitution - coding silent(1)	p.S156S(1)	lung(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(466-468)tcG>tcT		melanoma antigen family B, 6							56	52	53					X																	26212431		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212431G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.468G>T	X.37:g.26212431G>T							p.S156S	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	617	+			156			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.468G>T	CCDS14217.1																																																																																				0.507	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		6	357	1	0	8.12818e-05	1	8.45549e-05	6	357					T	26212431	G	T	26212431	2	4	117	1	0	0	0	0	0	0	0	1	9220	1074	38	3		3	MAGEB6	23	26212431	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	12410929	26212431	129058129	83	37554											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	781	0	0	0	1	0	10	781					G	37028425	A	G	37028425	3	3	117	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-XD-AAUG-01A-61D-A40W-08	10815994	37028425	118242135	84	37555											
ATRX	546	broad.mit.edu	37	chrX	76949326	76949326	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tatttacctccgcgttttttGagattttcagttttcatttt	5	7	2	1	rs398123424		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:76949326G>T	ENST00000373344.5	-	6	685	c.471C>A	c.(469-471)ctC>ctA	p.L157L	ATRX_ENST00000373341.1_Silent_p.L118L|ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	157					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						CGCGTTTTTTGAGATTTTCAG	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"Mis, F, N"	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"Pancreatic neuroendocrine tumors, paediatric GBM"		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(469-471)ctC>ctA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						151	132	138					X																	76949326		2203	4299	6502	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76949326G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.471C>A	X.37:g.76949326G>T						ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000373341.1_Silent_p.L118L	p.L157L	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			6	685	-			157					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.471C>A	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		10	271	1	0	3.62473e-10	1	4.13113e-10	10	271					T	76949326	G	T	76949326	2	4	117	1	0	0	0	0	0	0	0	1	1209	1277	45	3		3	ATRX	23	76949326	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	39920901	76949326	78321234	85	37556											
TMEM164	84187	broad.mit.edu	37	chrX	109352318	109352318	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccccctctaggctacagatgCacatgttgaatggagctctt	9	12	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:109352318C>A	ENST00000372073.1	+	4	787	c.451C>A	c.(451-453)Cac>Aac	p.H151N	TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N|TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N			Q5U3C3	TM164_HUMAN	transmembrane protein 164	151						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCTACAGATGCACATGTTGAA	0.458																																						ENST00000372073.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(451-453)Cac>Aac		transmembrane protein 164							236	196	210					X																	109352318		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109352318C>A	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.451C>A	X.37:g.109352318C>A	ENSP00000361143:p.His151Asn					TMEM164_ENST00000372068.2_Missense_Mutation_p.H151N|TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372072.3_Missense_Mutation_p.H2N	p.H151N			Q5U3C3	TM164_HUMAN			4	787	+			151					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.451C>A	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418339	0.25552	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068	T;T;T	0.41758	0.99;0.99;0.99	5.92	5.05	0.67936	.	0.043304	0.85682	N	0.000000	T	0.31606	0.0802	L	0.35593	1.075	0.49582	D	0.999802	P	0.47191	0.891	B	0.41510	0.359	T	0.03784	-1.1004	10	0.22109	T	0.4	-5.2934	11.4735	0.50284	0.1789:0.8211:0.0:0.0	.	151	Q5U3C3	TM164_HUMAN	N	2;151;151	ENSP00000384075:H2N;ENSP00000361143:H151N;ENSP00000361138:H151N	ENSP00000361138:H151N	H	+	1	0	TMEM164	109238974	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.103000	0.50298	1.246000	0.43901	0.600000	0.82982	CAC		0.458	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		8	907	1	0	1.06961e-07	1	1.19273e-07	8	907					A	109352318	C	A	109352318	3	1	117	1	0	0	0	0	1	0	0	0	16131	710	25	3	461	3	TMEM164	23	109352318	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	32402992	109352318	45918242	86	37557											
HTR2C	3358	broad.mit.edu	37	chrX	114141278	114141278	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttcgtagctttcttcatacCgctgacgattatggtgatta	8	9	2	2			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:114141278C>T	ENST00000276198.1	+	6	1405	c.677C>T	c.(676-678)cCg>cTg	p.P226L	HTR2C_ENST00000371951.1_Missense_Mutation_p.P226L|HTR2C_ENST00000371950.3_Silent_p.T194T	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	226					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCTTCATACCGCTGACGATT	0.507																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(676-678)cCg>cTg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						363	307	326					X																	114141278		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141278C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.677C>T	X.37:g.114141278C>T	ENSP00000276198:p.Pro226Leu					HTR2C_ENST00000371950.3_Silent_p.T194T|HTR2C_ENST00000371951.1_Missense_Mutation_p.P226L	p.P226L	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1405	+			226					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.677C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608978	0.87258	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.56103	0.48;0.48	4.87	4.87	0.63330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81336	0.4801	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87801	0.2625	10	0.87932	D	0	.	14.6716	0.68948	0.0:1.0:0.0:0.0	.	226	P28335	5HT2C_HUMAN	L	226	ENSP00000276198:P226L;ENSP00000361019:P226L	ENSP00000276198:P226L	P	+	2	0	HTR2C	114047534	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	7.715000	0.84713	2.135000	0.66039	0.538000	0.68166	CCG		0.507	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		28	1597	0	0	0	1	0	28	1597					T	114141278	C	T	114141278	3	4	117	1	0	0	0	0	1	0	0	0	7473	652	23	1	691	1	HTR2C	23	114141278	Missense_Mutation	SNP	C	TCGA-XD-AAUG-01A-61D-A40W-08	4788960	114141278	41129282	87	37558											
GLUD2	2747	broad.mit.edu	37	chrX	120181966	120181966	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccagcacagccagcaccGcacgccctgcaagggaggta	13	16	0	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:120181966G>A	ENST00000328078.1	+	1	505	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	143					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCCAGCACCGCACGCCCTGC	0.567																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(427-429)cGc>cAc		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						75	56	62					X																	120181966		2202	4300	6502	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181966G>A	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.428G>A	X.37:g.120181966G>A	ENSP00000327589:p.Arg143His						p.R143H	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	505	+			143					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.428G>A	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447586	0.63178	.	.	ENSG00000182890	ENST00000328078	D	0.97016	-4.21	1.8	0.91	0.19337	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.059193	0.64402	D	0.000004	D	0.97390	0.9146	H	0.97491	4.015	0.52501	D	0.999954	P	0.48640	0.913	P	0.49226	0.603	D	0.95406	0.8494	10	0.87932	D	0	.	6.0866	0.19970	0.1851:0.0:0.8149:0.0	.	143	P49448	DHE4_HUMAN	H	143	ENSP00000327589:R143H	ENSP00000327589:R143H	R	+	2	0	GLUD2	120009647	1.000000	0.71417	0.963000	0.40424	0.926000	0.56050	4.515000	0.60489	0.259000	0.21709	-0.412000	0.06146	CGC		0.567	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		5	332	0	0	0	1	0	5	332					A	120181966	G	A	120181966	3	1	117	1	0	0	0	0	1	0	0	0	6506	1087	38	1	430	1	GLUD2	23	120181966	Missense_Mutation	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	6040688	120181966	35088594	88	37559											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686333	125686333	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccagttggcgctccgtcaGcagctcgggcagcctctgta	12	15	2	0			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:125686333G>A	ENST00000371126.1	-	1	501	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	87										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						CGCTCCGTCAGCAGCTCGGGC	0.657																																						ENST00000371126.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(259-261)Ctg>Ttg		DDB1 and CUL4 associated factor 12-like 1							63	53	56					X																	125686333		2203	4298	6501	SO:0001819	synonymous_variant	139170							g.chrX:125686333G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.259C>T	X.37:g.125686333G>A							p.L87L	NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN			1	501	-			87					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.259C>T	CCDS14610.1																																																																																				0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		14	366	0	0	0	1	0	14	366					A	125686333	G	A	125686333	2	1	117	1	0	0	0	0	0	0	0	1	4275	962	34	2		2	DCAF12L1	23	125686333	Silent	SNP	G	TCGA-XD-AAUG-01A-61D-A40W-08	5504367	125686333	29584227	89	37560											
MAGEC1	9947	broad.mit.edu	37	chrX	140995016	140995016	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactccatgtctcctcTctactttcctcagagtcctc	7	15	3	1			TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										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)					ATGTCTCCTCTCTACTTTCCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193	205	201					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		11	1469	0	0	0	1	0	11	1469					A	140995016	T	A	140995016	3	1	117	1	0	0	0	0	1	0	0	0	9221	1551	54	5	1832	5	MAGEC1	23	140995016	Missense_Mutation	SNP	T	TCGA-XD-AAUG-01A-61D-A40W-08	15308683	140995016	14275544	90	37561											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-													gtaatcttctaagccagcaaCagcagcagcagcagcagcag					rs374739932|rs374561693		TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:149639325_149639327delCAG	ENST00000370401.2	+	4	1790_1792	c.1480_1482delCAG	c.(1480-1482)cagdel	p.Q502del	MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	502	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)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532																																						ENST00000370401.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1480-1482)del		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639325_149639327delCAG	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.1480_1482delCAG	X.37:g.149639334_149639336delCAG	ENSP00000359428:p.Gln502del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del	p.Q502del			Q13495	MAMD1_HUMAN			4	1790_1792	+	Acute lymphoblastic leukemia(192;6.56e-05)		502			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1480_1482delCAG	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		10	285						10	285	---	---	---	---	-	149639327	CAG	-	149639325	7	5	117	1	0	1	0	1	0	0	0	0	9249	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-XD-AAUG-01A-61D-A40W-08	8644309	149639325	5631235	91	37562											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-XD-AAUG-01A-61D-A40W-08	TCGA-XD-AAUG-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d714bbc-0aa2-41ac-aeff-74a4ffa9be91	db2c1772-19af-4709-afbe-8bf2c3f92b88	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		8	1047						8	1047	---	---	---	---	-	149984526	GTG	-	149984524	7	5	117	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-XD-AAUG-01A-61D-A40W-08	345199	149984524	5286036	92	37563											
MAP3K6	9064	broad.mit.edu	37	chr1	27688114	27688115	+	Frame_Shift_Ins	INS	-	-	GC													cttgttcatctccaggaccaINSgcacctgcaggcagttgggg					rs142955447		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:27688114_27688115insGC	ENST00000493901.1	-	12	1821_1822	c.1582_1583insGC	c.(1582-1584)ctgfs	p.L528fs	MAP3K6_ENST00000357582.2_Frame_Shift_Ins_p.L528fs|MAP3K6_ENST00000374040.3_Frame_Shift_Ins_p.L520fs	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	528					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCAGGACCAGCACCTGCAGG	0.629																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1558-1560)ggtfs		mitogen-activated protein kinase kinase kinase 6																																				SO:0001589	frameshift_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27688114_27688115insGC	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1581_1582dupGC	1.37:g.27688115_27688116dupGC	ENSP00000419591:p.Leu528fs					MAP3K6_ENST00000357582.2_Frame_Shift_Ins_p.G528fs|MAP3K6_ENST00000493901.1_Frame_Shift_Ins_p.G528fs	p.G520fs			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	10	1818_1819	-		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)	528					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Frame_Shift_Ins	INS	ENST00000493901.1	37	c.1558_1559insGC	CCDS299.1																																																																																				0.629	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		15	244						15	244	---	---	---	---	GC	27688115	-	GC	27688114	7	5	118	1	0	1	1	0	0	0	0	0	9295	188	7	0	2359	0	MAP3K6	1	27688114	Frame_Shift_Ins	INS	-	TCGA-XD-AAUH-01A-42D-A40W-08		27688114	221562507	1	37564											
SESN2	83667	broad.mit.edu	37	chr1	28595710	28595710	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaggagcagagggagagccGggctcggcgaggccctcgag	19	12	0	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:28595710G>A	ENST00000253063.3	+	2	428	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	36					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)		AGGGAGAGCCGGGCTCGGCGA	0.557																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(106-108)cGg>cAg		sestrin 2							60	65	63					1																	28595710		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28595710G>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.107G>A	1.37:g.28595710G>A	ENSP00000253063:p.Arg36Gln						p.R36Q	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	2	428	+		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)	36					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.107G>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436114	0.25813	.	.	ENSG00000130766	ENST00000253063	T	0.17054	2.3	5.38	2.31	0.28768	.	0.689341	0.14538	N	0.313426	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.08599	T	0.76	-16.7583	1.6538	0.02777	0.2294:0.3653:0.2696:0.1357	.	36	P58004	SESN2_HUMAN	Q	36	ENSP00000253063:R36Q	ENSP00000253063:R36Q	R	+	2	0	SESN2	28468297	0.000000	0.05858	0.629000	0.29254	0.872000	0.50106	0.514000	0.22786	0.616000	0.30141	0.655000	0.94253	CGG		0.557	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			10	292	0	0	0	1	0	10	292					A	28595710	G	A	28595710	3	1	118	1	0	0	0	0	1	0	0	0	14175	1116	39	1	113	1	SESN2	1	28595710	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	907596	28595710	220654911	2	37565											
SFRS11	9295	broad.mit.edu	37	chr1	70687376	70687377	+	Frame_Shift_Ins	INS	-	-	G													cgggccccagcggcgggcccINSggtggcggaggtggtggtgg							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:70687376_70687377insG	ENST00000370950.3	+	2	139_140	c.57_58insG	c.(58-60)ggtfs	p.G20fs	SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.G20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.G20fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.G20fs|RP4-677H15.4_ENST00000422107.1_RNA|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.G20fs			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	20	Poly-Gly.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P19P(1)		large_intestine(3)|ovary(2)|skin(1)	6						GCGGCGGGCCcggtggcggagg	0.649																																						ENST00000370950.3																			1	Substitution - coding silent(1)	p.P19P(1)	lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(55-60)ccgtggfs		serine/arginine-rich splicing factor 11																																				SO:0001589	frameshift_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70687376_70687377insG	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10782	protein-coding gene	gene with protein product	"SR splicing factor 11"	602010	"splicing factor, arginine/serine-rich 11"	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.59dupG	1.37:g.70687378_70687378dupG	ENSP00000359988:p.Gly20fs					SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.W20fs	p.W20fs			Q05519	SRS11_HUMAN			2	139_140	+			20			Poly-Gly.		Q5T758|Q8IWE6	Frame_Shift_Ins	INS	ENST00000370950.3	37	c.57_58insG	CCDS647.1																																																																																				0.649	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		8	462						8	462	---	---	---	---	G	70687377	-	G	70687376	7	5	118	1	0	1	1	0	0	0	0	0	14216	639	23	0	59	0	SFRS11	1	70687376	Frame_Shift_Ins	INS	-	TCGA-XD-AAUH-01A-42D-A40W-08	42091666	70687376	178563245	3	37566											
ODF2L	57489	broad.mit.edu	37	chr1	86826141	86826142	+	Frame_Shift_Ins	INS	-	-	T													atttcaataagggttttctgINSttttttttctacttcttgca					rs372782838		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:86826141_86826142insT	ENST00000359242.3	-	12	1502_1503	c.1221_1222insA	c.(1219-1224)aaacagfs	p.Q408fs	ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.Q379fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.Q248fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.Q379fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.Q408fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.Q379fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	408						centrosome (GO:0005813)		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGGGTTTTCTGTTTTTTTTCTA	0.287																																						ENST00000359242.3																			2	Deletion - Frameshift(2)	p.K378fs*22(2)	lung(2)	endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1219-1224)aaagaafs		outer dense fiber of sperm tails 2-like			,,,	3,4259		0,3,2128					,,,	5.9	1			91	5,8229		0,5,4112	no	frameshift,frameshift,frameshift,frameshift	ODF2L	NM_020729.2,NM_001184766.1,NM_001184765.1,NM_001007022.2	,,,	0,8,6240	A1A1,A1R,RR		0.0607,0.0704,0.064	,,,	,,,		8,12488				SO:0001589	frameshift_variant	57489					centrosome		g.chr1:86826141_86826142insT		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1222dupA	1.37:g.86826149_86826149dupT	ENSP00000359600:p.Gln408fs					ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.E408fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.E379fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.E248fs	p.E408fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	12	1502_1503	-			408					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Frame_Shift_Ins	INS	ENST00000359242.3	37	c.1221_1222insA	CCDS41354.2																																																																																				0.287	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			7	278						7	278	---	---	---	---	T	86826142	-	T	86826141	7	5	118	1	0	1	1	0	0	0	0	0	10870	1386	48	0	892	0	ODF2L	1	86826141	Frame_Shift_Ins	INS	-	TCGA-XD-AAUH-01A-42D-A40W-08	16138765	86826141	162424480	4	37567											
RPTN	126638	broad.mit.edu	37	chr1	152127917	152127920	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													cgtagtgggaactctggcctTgtctgtctgtctgaccatag							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:152127917_152127920delTGTC	ENST00000316073.3	-	3	1719_1722	c.1655_1658delGACA	c.(1654-1659)agacaafs	p.RQ552fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	552	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.505																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1654-1659)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127917_152127920delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1655_1658delGACA	1.37:g.152127925_152127928delTGTC	ENSP00000317895:p.Arg552fs						p.RQ552fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1719_1722	-			552			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1655_1658delGACA	CCDS41397.1																																																																																				0.505	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	2844						7	2844	---	---	---	---	-	152127920	TGTC	-	152127917	7	5	118	1	0	1	0	1	0	0	0	0	13714	1812	63	0	700	0	RPTN	1	152127917	Frame_Shift_Del	DEL	TGTC	TCGA-XD-AAUH-01A-42D-A40W-08	65301776	152127917	97122704	5	37568											
GPATCH4	54865	broad.mit.edu	37	chr1	156565504	156565504	+	Frame_Shift_Del	DEL	T	T	-													tctgcctccttttctttttcTtttttttggggggcttgctc							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:156565504delT	ENST00000438976.2	-	8	659	c.629delA	c.(628-630)aagfs	p.K213fs	GPATCH4_ENST00000368232.4_Frame_Shift_Del_p.K208fs|GPATCH4_ENST00000497287.1_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	208							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCTTTTTCTTTTTTTTGGG	0.537																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(613-615)agfs		G patch domain containing 4							90	89	90					1																	156565504		2203	4300	6503	SO:0001589	frameshift_variant	54865					intracellular	nucleic acid binding	g.chr1:156565504delT	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.629delA	1.37:g.156565504delT	ENSP00000396441:p.Lys213fs					GPATCH4_ENST00000438976.2_Frame_Shift_Del_p.K213fs|GPATCH4_ENST00000497287.1_5'UTR	p.K208fs	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	746	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		208					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Del	DEL	ENST00000438976.2	37	c.614delA	CCDS44245.1																																																																																				0.537	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		8	371						8	371	---	---	---	---	-	156565504	T	-	156565504	7	5	118	1	0	1	0	1	0	0	0	0	6622	1609	56	0	502	0	GPATCH4	1	156565504	Frame_Shift_Del	DEL	T	TCGA-XD-AAUH-01A-42D-A40W-08	4437587	156565504	92685117	6	37569											
GEN1	348654	broad.mit.edu	37	chr2	17963200	17963200	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaactaagattccaaagCacttgaaatttaaaacactt	3	7	0	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:17963200C>T	ENST00000381254.2	+	14	2935	c.2721C>T	c.(2719-2721)agC>agT	p.S907S	GEN1_ENST00000317402.7_Silent_p.S907S|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	907					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)					GATTCCAAAGCACTTGAAATT	0.348								Homologous recombination																														ENST00000381254.2																			0				breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(2719-2721)agC>agT	Homologous recombination	GEN1 Holliday junction 5' flap endonuclease							44	49	47					2																	17963200		2178	4292	6470	SO:0001819	synonymous_variant	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17963200C>T	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.2721C>T	2.37:g.17963200C>T						GEN1_ENST00000317402.7_Silent_p.S907S|SMC6_ENST00000402989.1_Intron	p.S907S	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN			14	2935	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		907					Q17RS9|Q6ZN37	Silent	SNP	ENST00000381254.2	37	c.2721C>T	CCDS1691.1																																																																																				0.348	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	NM_182625		6	172	0	0	0	1	0	6	172					T	17963200	C	T	17963200	2	4	118	1	0	0	0	0	0	0	0	1	6364	709	25	2		2	GEN1	2	17963200	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		17963200	225236173	7	37570											
OTOF	9381	broad.mit.edu	37	chr2	26683776	26683776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaggggccaccagcctttgaCgcgcttttgcttgaagatgg	14	10	0	3	rs373876327		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:26683776C>T	ENST00000272371.2	-	44	5782	c.5656G>A	c.(5656-5658)Gtc>Atc	p.V1886I	OTOF_ENST00000338581.6_Missense_Mutation_p.V1119I|OTOF_ENST00000403946.3_Missense_Mutation_p.V1886I|OTOF_ENST00000402415.3_Missense_Mutation_p.V1196I|OTOF_ENST00000339598.3_Missense_Mutation_p.V1119I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1886			V -> A (in dbSNP:rs45442103).		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)					CAGCCTTTGACGCGCTTTTGC	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		15202	0.001		0.0	False		,,,				2504	0.0				GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(5656-5658)Gtc>Atc		otoferlin			ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	86	70	75		3355,5656,3586,3355	3.8	1	2		75	0,8600		0,0,4300	no	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	1119/1231,1886/1998,1196/1308,1119/1231	26683776	1,13005	2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26683776C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5656G>A	2.37:g.26683776C>T	ENSP00000272371:p.Val1886Ile					OTOF_ENST00000339598.3_Missense_Mutation_p.V1119I|OTOF_ENST00000402415.3_Missense_Mutation_p.V1196I|OTOF_ENST00000338581.6_Missense_Mutation_p.V1119I|OTOF_ENST00000403946.3_Missense_Mutation_p.V1886I	p.V1886I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			44	5782	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1886		V -> A (in dbSNP:rs45442103).			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.5656G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	14.31	2.498530	0.44455	2.27E-4	0.0	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.73	3.85	0.44370	C2 calcium/lipid-binding domain, CaLB (1);	0.061467	0.64402	D	0.000005	T	0.65004	0.2650	L	0.35487	1.065	0.52501	D	0.999958	B;B;B;B	0.29909	0.261;0.042;0.036;0.018	B;B;B;B	0.22753	0.041;0.018;0.024;0.018	T	0.59695	-0.7406	10	0.26408	T	0.33	-24.5353	12.7675	0.57401	0.0:0.9189:0.0:0.0811	.	1886;1119;1196;1119	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	1119;1119;1196;1886;1886	ENSP00000345137:V1119I;ENSP00000344521:V1119I;ENSP00000383906:V1196I;ENSP00000272371:V1886I;ENSP00000385255:V1886I	ENSP00000272371:V1886I	V	-	1	0	OTOF	26537280	0.994000	0.37717	0.987000	0.45799	0.970000	0.65996	2.719000	0.47244	0.991000	0.38814	0.457000	0.33378	GTC		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			8	199	0	0	0	1	0	8	199					T	26683776	C	T	26683776	3	4	118	1	0	0	0	0	1	0	0	0	11345	536	19	1	534	1	OTOF	2	26683776	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	8720576	26683776	216515597	8	37571											
PLEKHH2	130271	broad.mit.edu	37	chr2	43939401	43939401	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cacatactatctgactgcagAttctcccaatatattggaag	6	10	2	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:43939401A>G	ENST00000282406.4	+	15	2449	c.2339A>G	c.(2338-2340)gAt>gGt	p.D780G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	780	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGACTGCAGATTCTCCCAAT	0.418																																						ENST00000282406.4																			0				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						c.(2338-2340)gAt>gGt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							155	144	148					2																	43939401		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939401A>G	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.2339A>G	2.37:g.43939401A>G	ENSP00000282406:p.Asp780Gly						p.D780G	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			15	2449	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	780			PH 1.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2339A>G	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482238	0.84747	.	.	ENSG00000152527	ENST00000282406	T	0.14144	2.53	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.87097	2.86	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.81914	0.953;0.995	T	0.51896	-0.8647	10	0.87932	D	0	-24.0949	14.981	0.71311	1.0:0.0:0.0:0.0	.	780;217	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	G	780	ENSP00000282406:D780G	ENSP00000282406:D780G	D	+	2	0	PLEKHH2	43792905	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.890000	0.92477	1.935000	0.56089	0.377000	0.23210	GAT		0.418	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		12	343	0	0	0	1	0	12	343					G	43939401	A	G	43939401	3	3	118	1	0	0	0	0	1	0	0	0	12119	333	12	4	2393	4	PLEKHH2	2	43939401	Missense_Mutation	SNP	A	TCGA-XD-AAUH-01A-42D-A40W-08	17255625	43939401	199259972	9	37572											
CNTNAP5	129684	broad.mit.edu	37	chr2	125192175	125192175	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gttcaagagcatgcaaggagAtggggtcctgttccatggag	15	7	1	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:125192175A>T	ENST00000431078.1	+	5	1008	c.644A>T	c.(643-645)gAt>gTt	p.D215V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	215	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)		ATGCAAGGAGATGGGGTCCTG	0.507																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(643-645)gAt>gTt		contactin associated protein-like 5							97	98	97					2																	125192175		2075	4225	6300	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125192175A>T	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.644A>T	2.37:g.125192175A>T	ENSP00000399013:p.Asp215Val						p.D215V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	5	1008	+			215			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.644A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370207	0.82573	.	.	ENSG00000155052	ENST00000431078	T	0.80909	-1.43	5.48	5.48	0.80851	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	0.000151	D	0.91257	0.7244	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93000	0.6422	10	0.87932	D	0	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	215	Q8WYK1	CNTP5_HUMAN	V	215	ENSP00000399013:D215V	ENSP00000399013:D215V	D	+	2	0	CNTNAP5	124908645	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	9.169000	0.94788	2.084000	0.62774	0.533000	0.62120	GAT		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			8	204	0	0	0	1	0	8	204					T	125192175	A	T	125192175	3	4	118	1	0	0	0	0	1	0	0	0	3659	333	12	5	662	5	CNTNAP5	2	125192175	Missense_Mutation	SNP	A	TCGA-XD-AAUH-01A-42D-A40W-08	81252774	125192175	118007198	10	37573											
COBLL1	22837	broad.mit.edu	37	chr2	165551295	165551296	+	Frame_Shift_Ins	INS	-	-	A													atactctcttctgcatctgcINSaaaaaaaaagagctgggttt					rs374805044		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:165551295_165551296insA	ENST00000392717.2	-	13	2838_2839	c.2834_2835insT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.L974fs|COBLL1_ENST00000375458.2_Frame_Shift_Ins_p.L869fs|COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.L907fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						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						TCTGCATCTGCAAAAAAAAAGA	0.421																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2605-2607)tcafs		cordon-bleu WH2 repeat protein-like 1																																				SO:0001589	frameshift_variant	22837							g.chr2:165551295_165551296insA	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.2835dupT	2.37:g.165551304_165551304dupA	ENSP00000376478:p.Leu945fs					COBLL1_ENST00000342193.4_Frame_Shift_Ins_p.S907fs|COBLL1_ENST00000194871.6_Frame_Shift_Ins_p.S974fs|COBLL1_ENST00000392717.2_Frame_Shift_Ins_p.S945fs|COBLL1_ENST00000409184.3_Frame_Shift_Ins_p.S907fs	p.S869fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2827_2828	-			945					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Ins	INS	ENST00000392717.2	37	c.2606_2607insT																																																																																					0.421	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		9	179						9	179	---	---	---	---	A	165551296	-	A	165551295	7	5	118	1	0	1	1	0	0	0	0	0	3663	709	25	0	791	0	COBLL1	2	165551295	Frame_Shift_Ins	INS	-	TCGA-XD-AAUH-01A-42D-A40W-08	40359120	165551295	77648078	11	37574											
AQP12A	375318	broad.mit.edu	37	chr2	241631584	241631584	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttcctggcgcacgggGtcaccttggacggggcctcg	15	14	2	0	rs199880904		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:241631584G>T	ENST00000337801.4	+	2	286	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	AQP12A_ENST00000429564.1_Missense_Mutation_p.V85F|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	73						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGCACGGGGTCACCTTGGA	0.667																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(253-255)Gtc>Ttc		aquaporin 12A							30	45	40					2																	241631584		2151	4265	6416	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631584G>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.217G>T	2.37:g.241631584G>T	ENSP00000337144:p.Val73Phe					AQP12A_ENST00000337801.4_Missense_Mutation_p.V73F	p.V85F			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	316	+		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)	73						Missense_Mutation	SNP	ENST00000337801.4	37	c.253G>T		.	.	.	.	.	.	.	.	.	.	.	1.073	-0.669235	0.03403	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.11277	2.79;2.79	2.58	2.58	0.30949	Aquaporin-like (2);	0.350897	0.29198	N	0.012848	T	0.03434	0.0099	N	0.02916	-0.46	0.09310	N	0.999998	B	0.11235	0.004	B	0.12837	0.008	T	0.45600	-0.9250	10	0.09843	T	0.71	.	6.7793	0.23636	0.0:0.0:0.7211:0.2789	.	73	Q8IXF9	AQ12A_HUMAN	F	73;85;58	ENSP00000337144:V73F;ENSP00000405899:V85F	ENSP00000337144:V73F	V	+	1	0	AQP12A	241280257	0.003000	0.15002	0.643000	0.29450	0.067000	0.16453	1.019000	0.30014	1.474000	0.48178	0.186000	0.17326	GTC		0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		5	237	1	0	2.4624e-09	1	2.7132e-09	5	237					T	241631584	G	T	241631584	3	4	118	1	0	0	0	0	1	0	0	0	824	1261	44	3	223	3	AQP12A	2	241631584	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	76080289	241631584	1567789	12	37575											
SRGAP3	9901	broad.mit.edu	37	chr3	9036070	9036070	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgggggatgagtccatccaCgccgttgtgccggccctccc	13	15	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:9036070C>T	ENST00000383836.3	-	19	2792	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V765M	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	789					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)		AGTCCATCCACGCCGTTGTGC	0.577			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2365-2367)Gtg>Atg		SLIT-ROBO Rho GTPase activating protein 3							88	88	88					3																	9036070		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036070C>T	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.2365G>A	3.37:g.9036070C>T	ENSP00000373347:p.Val789Met					SRGAP3_ENST00000360413.3_Missense_Mutation_p.V765M	p.V789M	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2792	-			789					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2365G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461566	0.84317	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.48522	0.81;0.81	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	L	0.31420	0.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.945	T	0.55560	-0.8122	10	0.34782	T	0.22	.	18.1343	0.89612	0.0:1.0:0.0:0.0	.	765;789	O43295-2;O43295	.;SRGP2_HUMAN	M	789;765	ENSP00000373347:V789M;ENSP00000353587:V765M	ENSP00000353587:V765M	V	-	1	0	SRGAP3	9011070	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.879000	0.63100	2.433000	0.82419	0.650000	0.86243	GTG		0.577	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			12	329	0	0	0	1	0	12	329					T	9036070	C	T	9036070	3	4	118	1	0	0	0	0	1	0	0	0	15199	536	19	1	950	1	SRGAP3	3	9036070	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		9036070	188986360	13	37576											
PTPRG	5793	broad.mit.edu	37	chr3	62257096	62257096	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aagggtcgtcagaatgaaagGgtagtgatccagtatcacta	12	6	2	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:62257096G>T	ENST00000474889.1	+	21	3425	c.3048G>T	c.(3046-3048)agG>agT	p.R1016S	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987S|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1016	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGAATGAAAGGGTAGTGATCC	0.478																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3046-3048)agG>agT		protein tyrosine phosphatase, receptor type, G							102	101	101					3																	62257096		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62257096G>T	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.3048G>T	3.37:g.62257096G>T	ENSP00000418112:p.Arg1016Ser					PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R987S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	p.R1016S	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	21	3425	+			1016			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.3048G>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341750	0.61073	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.15017	2.46;2.46	5.74	2.67	0.31697	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	H	0.94582	3.555	0.44079	D	0.996834	P;D;D	0.69078	0.6;0.997;0.997	B;D;D	0.65010	0.382;0.931;0.922	T	0.40905	-0.9538	10	0.87932	D	0	.	6.245	0.20811	0.2928:0.0:0.567:0.1403	.	262;987;1016	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1016;987	ENSP00000418112:R1016S;ENSP00000295874:R987S	ENSP00000295874:R987S	R	+	3	2	PTPRG	62232136	0.062000	0.20869	0.021000	0.16686	0.953000	0.61014	0.448000	0.21726	0.299000	0.22661	0.591000	0.81541	AGG		0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		10	225	1	0	0.000673444	1	0.000702981	10	225					T	62257096	G	T	62257096	3	4	118	1	0	0	0	0	1	0	0	0	12852	1223	43	3	3130	3	PTPRG	3	62257096	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	53221026	62257096	135765334	14	37577											
LSAMP	4045	broad.mit.edu	37	chr3	115560805	115560805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcagggaagactggccctccGtgctcttaatctcaaggcca	10	13	3	1	rs117984283		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:115560805G>A	ENST00000490035.2	-	6	1305	c.806C>T	c.(805-807)aCg>aTg	p.T269M	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	269	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGGCCCTCCGTGCTCTTAAT	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18695	0.001		0.0	False		,,,				2504	0.0					ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(805-807)aCg>aTg		limbic system-associated membrane protein		G	MET/THR	0,4406		0,0,2203	104	91	95		806	4.9	1	3	dbSNP_132	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	LSAMP	NM_002338.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	269/339	115560805	1,13005	2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560805G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"Immunoglobulin superfamily / I-set domain containing"	6705	protein-coding gene	gene with protein product	"IgLON family member 3"	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.806C>T	3.37:g.115560805G>A	ENSP00000419000:p.Thr269Met					LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M|LSAMP_ENST00000498645.1_5'UTR	p.T269M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1305	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	269			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.806C>T	CCDS2982.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.98	2.991249	0.54041	0.0	1.16E-4	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.68624	-0.34;-0.34;-0.34	5.87	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.335564	0.33854	N	0.004494	T	0.69744	0.3145	L	0.46614	1.455	0.39182	D	0.96279	D;D	0.65815	0.995;0.995	P;P	0.55545	0.666;0.778	T	0.68269	-0.5453	10	0.33141	T	0.24	-5.6108	13.4795	0.61328	0.1018:0.0:0.8982:0.0	.	269;269	B2RCU8;Q13449	.;LSAMP_HUMAN	M	253;269;266	ENSP00000328455:T253M;ENSP00000419000:T269M;ENSP00000443429:T266M	ENSP00000328455:T253M	T	-	2	0	LSAMP	117043495	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	2.307000	0.43682	2.785000	0.95823	0.655000	0.94253	ACG		0.483	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		5	218	0	0	0	1	0	5	218					A	115560805	G	A	115560805	3	1	118	1	0	0	0	0	1	0	0	0	9086	1145	40	1	218	1	LSAMP	3	115560805	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	53303709	115560805	82461625	15	37578											
GATA2	2624	broad.mit.edu	37	chr3	128200008	128200008	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtgccatgtgtccagccaGggcagctgcactgaaggggg	17	10	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:128200008G>A	ENST00000341105.2	-	6	1628	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.L433L|GATA2_ENST00000430265.2_Silent_p.L419L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	433					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)		TGTCCAGCCAGGGCAGCTGCA	0.617			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(1297-1299)Ctg>Ttg		GATA binding protein 2							124	109	114					3																	128200008		2203	4300	6503	SO:0001819	synonymous_variant	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128200008G>A	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.1297C>T	3.37:g.128200008G>A						GATA2_ENST00000487848.1_Silent_p.L433L|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.L419L	p.L433L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	6	1628	-			433					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	ENST00000341105.2	37	c.1297C>T	CCDS3049.1																																																																																				0.617	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		10	277	0	0	0	1	0	10	277					A	128200008	G	A	128200008	2	1	118	1	0	0	0	0	0	0	0	1	6282	991	35	2		2	GATA2	3	128200008	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	12639203	128200008	69822422	16	37579											
MED12L	116931	broad.mit.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-													atcggggcccccagccctggCccccccggccctggcatgag							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						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)			CCAGCCCTGGCCCCCCCGGCC	0.582																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1003-1005)ggfs		mediator complex subunit 12-like							83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877786delC	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.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs					MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	p.G335fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1043	+			335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	ENST00000474524.1	37	c.1005delC	CCDS33876.1																																																																																				0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	608						7	608	---	---	---	---	-	150877786	C	-	150877786	7	5	118	1	0	1	0	1	0	0	0	0	9470	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-XD-AAUH-01A-42D-A40W-08	22677778	150877786	47144644	17	37580											
CLNK	116449	broad.mit.edu	37	chr4	10502908	10502908	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctgagtcctgtccccaggGcaaactgctgattcctctcc	8	16	2	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:10502908G>A	ENST00000226951.6	-	18	1351	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	CLNK_ENST00000515667.1_Missense_Mutation_p.A109V	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	371	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGTCCCCAGGGCAAACTGCTG	0.458																																					GBM(87;402 1286 6949 13902 35851)	ENST00000226951.6																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(1111-1113)gCc>gTc		cytokine-dependent hematopoietic cell linker							80	78	79					4																	10502908		1916	4142	6058	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10502908G>A	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.1112C>T	4.37:g.10502908G>A	ENSP00000226951:p.Ala371Val					CLNK_ENST00000515667.1_Missense_Mutation_p.A109V	p.A371V	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN			18	1351	-			371			SH2.		Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.1112C>T	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907244	0.92107	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	T;T	0.62788	-0.0;-0.0	5.39	5.39	0.77823	SH2 motif (4);	0.000000	0.64402	D	0.000001	T	0.65790	0.2725	N	0.21448	0.665	0.80722	D	1	D	0.58970	0.984	P	0.61201	0.885	T	0.66925	-0.5800	10	0.45353	T	0.12	-20.1462	16.6639	0.85247	0.0:0.0:1.0:0.0	.	371	Q7Z7G1	CLNK_HUMAN	V	371;109;335	ENSP00000226951:A371V;ENSP00000427256:A109V	ENSP00000226951:A371V	A	-	2	0	CLNK	10112006	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.192000	0.65115	2.515000	0.84797	0.650000	0.86243	GCC		0.458	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964		4	206	0	0	0	1	0	4	206					A	10502908	G	A	10502908	3	1	118	1	0	0	0	0	1	0	0	0	3556	1203	42	2	182	2	CLNK	4	10502908	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		10502908	180651368	18	37581											
HERC5	51191	broad.mit.edu	37	chr4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A													gtttgaaagcattttacaagINSaaaaaaaaataattcagatc							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)gaafs	p.E137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(409-411)aaafs		HECT and RLD domain containing E3 ubiquitin protein ligase 5																																				SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89381265_89381266insA	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.418dupA	4.37:g.89381274_89381274dupA	ENSP00000264350:p.Glu137fs					HERC5_ENST00000508695.1_3'UTR	p.K137fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	3	562_563	+		Hepatocellular(203;0.114)	137					B2RTQ1|Q69G20	Frame_Shift_Ins	INS	ENST00000264350.3	37	c.409_410insA	CCDS3630.1																																																																																				0.272	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		7	174						7	174	---	---	---	---	A	89381266	-	A	89381265	7	5	118	1	0	1	1	0	0	0	0	0	7091	943	33	0	419	0	HERC5	4	89381265	Frame_Shift_Ins	INS	-	TCGA-XD-AAUH-01A-42D-A40W-08	78878357	89381265	101773011	19	37582											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		9	392						9	392	---	---	---	---	-	146077125	CAG	-	146077123	7	5	118	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-XD-AAUH-01A-42D-A40W-08	56695858	146077123	45077153	20	37583											
AHRR	57491	broad.mit.edu	37	chr5	433019	433019	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggccccatgcctgtgcctcCggggtggccctgaccttgtc	14	16	0	1	rs201402371		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:433019C>T	ENST00000505113.1	+	10	1125	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	AHRR_ENST00000512529.1_Missense_Mutation_p.R207W|AHRR_ENST00000506456.1_Missense_Mutation_p.R217W|AHRR_ENST00000316418.5_Missense_Mutation_p.R379W	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	361					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)			CCTGTGCCTCCGGGGTGGCCC	0.667																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(1135-1137)Cgg>Tgg		aryl-hydrocarbon receptor repressor		C	TRP/ARG,TRP/ARG	0,3922		0,0,1961	21	24	23		1081,1135	-2.2	0.1	5		23	1,8245		0,1,4122	yes	missense,missense	AHRR	NM_001242412.1,NM_020731.4	101,101	0,1,6083	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	361/702,379/720	433019	1,12167	1961	4123	6084	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:433019C>T	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1081C>T	5.37:g.433019C>T	ENSP00000424601:p.Arg361Trp					AHRR_ENST00000505113.1_Missense_Mutation_p.R361W|AHRR_ENST00000506456.1_Missense_Mutation_p.R217W|AHRR_ENST00000512529.1_Missense_Mutation_p.R207W	p.R379W	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		11	1179	+			361					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.1135C>T	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186883	0.21870	0.0	1.21E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.24151	2.19;2.19;1.87;1.87	3.9	-2.23	0.06930	.	0.377486	0.28504	N	0.015115	T	0.37758	0.1015	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.999;0.99;0.998	D;B;P	0.66497	0.944;0.425;0.788	T	0.18524	-1.0334	10	0.66056	D	0.02	.	6.5247	0.22295	0.3451:0.5411:0.1138:0.0	.	217;361;379	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	W	361;379;207;217	ENSP00000424601:R361W;ENSP00000323816:R379W;ENSP00000424880:R207W;ENSP00000426932:R217W	ENSP00000323816:R379W	R	+	1	2	AHRR	486019	0.326000	0.24669	0.058000	0.19502	0.059000	0.15707	0.369000	0.20416	-0.463000	0.06973	-0.321000	0.08615	CGG		0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		4	90	0	0	0	1	0	4	90					T	433019	C	T	433019	3	4	118	1	0	0	0	0	1	0	0	0	417	643	23	1	1177	1	AHRR	5	433019	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		433019	180482241	21	37584											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-													gtagttaaacttggagagtcTttttttccagtgctccagct							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	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)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145	157	153					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	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.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	931						8	931	---	---	---	---	-	13919383	T	-	13919383	7	5	118	1	0	1	0	1	0	0	0	0	4620	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Del	DEL	T	TCGA-XD-AAUH-01A-42D-A40W-08	13486364	13919383	166995877	22	37585											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222206	100222206	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gagaaatgtttagtgtccggCgcctgtcaagcacatagtgt	12	8	1	1	rs376980451		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:100222206C>T	ENST00000231461.5	-	3	654	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R115H	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	115					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)		TAGTGTCCGGCGCCTGTCAAG	0.433																																						ENST00000231461.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(343-345)cGc>cAc		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	137	130	132		344,344	5.9	1	5		132	0,8600		0,0,4300	no	missense,missense	ST8SIA4	NM_175052.1,NM_005668.4	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	115/169,115/360	100222206	1,13005	2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222206C>T	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.344G>A	5.37:g.100222206C>T	ENSP00000231461:p.Arg115His					ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R115H|ST8SIA4_ENST00000507360.2_5'UTR	p.R115H	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	654	-		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)	115					A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.344G>A	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538956	0.27475	2.27E-4	0.0	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.31247	1.5;1.5	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	N	0.02916	-0.46	0.58432	D	0.999998	B	0.29115	0.233	B	0.20184	0.028	T	0.16541	-1.0399	10	0.02654	T	1	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	115	Q92187	SIA8D_HUMAN	H	115	ENSP00000231461:R115H;ENSP00000428914:R115H	ENSP00000231461:R115H	R	-	2	0	ST8SIA4	100250105	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.665000	0.54532	2.809000	0.96659	0.557000	0.71058	CGC		0.433	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		10	358	0	0	0	1	0	10	358					T	100222206	C	T	100222206	3	4	118	1	0	0	0	0	1	0	0	0	15286	768	27	1	751	1	ST8SIA4	5	100222206	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	86302823	100222206	80693054	23	37586											
SLIT3	6586	broad.mit.edu	37	chr5	168310293	168310293	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcacatcggtgatgccGcggaacgccttcctcgggat	11	13	2	1	rs372146302	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:168310293G>A	ENST00000519560.1	-	5	881	c.462C>T	c.(460-462)cgC>cgT	p.R154R	SLIT3_ENST00000404867.3_Silent_p.R154R|SLIT3_ENST00000332966.8_Silent_p.R154R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	154					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)			CGGTGATGCCGCGGAACGCCT	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18893	0.001		0.0	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(460-462)cgC>cgT		slit homolog 3 (Drosophila)		G		0,4406		0,0,2203	130	107	115		462	-9.9	0	5		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT3	NM_003062.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		154/1524	168310293	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168310293G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.462C>T	5.37:g.168310293G>A						SLIT3_ENST00000332966.8_Silent_p.R154R|SLIT3_ENST00000404867.3_Silent_p.R154R	p.R154R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	881	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	154					A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.462C>T	CCDS4369.1																																																																																				0.502	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		7	240	0	0	0	1	0	7	240					A	168310293	G	A	168310293	2	1	118	1	0	0	0	0	0	0	0	1	14791	1074	38	1		1	SLIT3	5	168310293	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	68088087	168310293	12604967	24	37587											
RASGEF1C	255426	broad.mit.edu	37	chr5	179545648	179545648	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtcagggagcggtgggcCgccccgcgcagggctgtcct	18	15	1	0	rs201724936		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:179545648C>T	ENST00000393371.2	-	9	1340	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RASGEF1C_ENST00000361132.4_Silent_p.A348A|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000522500.1_Silent_p.A197A			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	348	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGTGGGCCGCCCCGCGCA	0.667																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(1042-1044)gcG>gcA		RasGEF domain family, member 1C		C		0,4404		0,0,2202	53	62	59		1044	-8.4	0.4	5		59	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	RASGEF1C	NM_175062.3		0,4,6498	TT,TC,CC		0.0465,0.0,0.0308		348/467	179545648	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179545648C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1044G>A	5.37:g.179545648C>T						RASGEF1C_ENST00000361132.4_Silent_p.A348A|RASGEF1C_ENST00000522500.1_Silent_p.A197A	p.A348A			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1340	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	348			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.1044G>A	CCDS4452.1																																																																																				0.667	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		10	298	0	0	0	1	0	10	298					T	179545648	C	T	179545648	2	4	118	1	0	0	0	0	0	0	0	1	13121	639	23	1		1	RASGEF1C	5	179545648	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	11235355	179545648	1369612	25	37588											
RDBP	7936	broad.mit.edu	37	chr6	31922356	31922356	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggaccctctcggtctcGgtctcgatcccgctcccgat	10	16	3	0	rs201903649		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:31922356G>T	ENST00000375429.3	-	7	944	c.718C>A	c.(718-720)Cga>Aga	p.R240R	MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Silent_p.R247R|NELFE_ENST00000444811.2_Silent_p.R210R	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	240	30 X 2 AA approximate tandem repeats of R-[DSNE].				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)										tctcggtctcggtctcgatcc	0.572																																						ENST00000375429.3																			0											c.(718-720)Cga>Aga		negative elongation factor complex member E							52	57	56					6																	31922356		2203	4300	6503	SO:0001819	synonymous_variant	7936							g.chr6:31922356G>T	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.718C>A	6.37:g.31922356G>T						NELFE_ENST00000444811.2_Silent_p.R210R|NELFE_ENST00000375425.5_Silent_p.R247R	p.R240R	NM_002904.5	NP_002895.3					7	944	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	c.718C>A	CCDS4730.1																																																																																				0.572	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			6	171	1	0	0.00621372	1	0.00626637	6	171					T	31922356	G	T	31922356	2	4	118	1	0	0	0	0	0	0	0	1	13238	1124	39	3		3	RDBP	6	31922356	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		31922356	139192711	26	37589											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	613						7	613	---	---	---	---	-	33411203	CAC	-	33411201	7	5	118	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-XD-AAUH-01A-42D-A40W-08	1488845	33411201	137703866	27	37590											
KIAA0240	23506	broad.mit.edu	37	chr6	42789764	42789766	+	In_Frame_Del	DEL	GAT	GAT	-													ttttctttatagttgtcatgGatgatgatgatgactcgtgt							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:42789764_42789766delGAT	ENST00000314073.5	+	3	180_182	c.4_6delGAT	c.(4-6)gatdel	p.D6del	GLTSCR1L_ENST00000394168.1_In_Frame_Del_p.D6del			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	6																	AGTTGTCATGGATGATGATGATG	0.369																																						ENST00000314073.5																			0											c.(4-6)del		GLTSCR1-like																																				SO:0001651	inframe_deletion	23506							g.chr6:42789764_42789766delGAT	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.4_6delGAT	6.37:g.42789773_42789775delGAT	ENSP00000313933:p.Asp6del					GLTSCR1L_ENST00000394168.1_In_Frame_Del_p.D6del	p.D6del							3	180_182	+								A1L3W2|Q5TFZ3|Q92514	In_Frame_Del	DEL	ENST00000314073.5	37	c.4_6delGAT	CCDS34451.1																																																																																				0.369	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		8	425						8	425	---	---	---	---	-	42789766	GAT	-	42789764	7	5	118	1	0	1	0	1	0	0	0	0	8194	1174	41	0	6	0	KIAA0240	6	42789764	In_Frame_Del	DEL	GAT	TCGA-XD-AAUH-01A-42D-A40W-08	9378563	42789764	128325303	28	37591											
MED23	9439	broad.mit.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-													tcctatactcctcctccacaTtttttttcagattaaaacgg							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																						ENST00000403834.3																			2	Insertion - Frameshift(2)	p.N759fs*7(1)|p.N765fs*7(1)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(2293-2295)atfs		mediator complex subunit 23							154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131919846delT	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs					MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs	p.N765fs			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	19	2467	-	Breast(56;0.0753)		759					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.2294delA	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			7	406						7	406	---	---	---	---	-	131919846	T	-	131919846	7	5	118	1	0	1	0	1	0	0	0	0	9482	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-XD-AAUH-01A-42D-A40W-08	89130082	131919846	39195221	29	37592											
HIVEP2	3097	broad.mit.edu	37	chr6	143091520	143091520	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttctgctgcttggtttcCatgaagagctccaagctact	8	11	1	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:143091520C>A	ENST00000367604.1	-	4	4995	c.4356G>T	c.(4354-4356)atG>atT	p.M1452I	HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1452I|HIVEP2_ENST00000367603.2_Missense_Mutation_p.M1452I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1452					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)		GCTTGGTTTCCATGAAGAGCT	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367603.2																			0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(4354-4356)atG>atT		human immunodeficiency virus type I enhancer binding protein 2							142	146	145					6																	143091520		1981	4161	6142	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143091520C>A	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.4356G>T	6.37:g.143091520C>A	ENSP00000356576:p.Met1452Ile					HIVEP2_ENST00000367604.1_Missense_Mutation_p.M1452I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1452I	p.M1452I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	5098	-			1452					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.4356G>T	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641175	0.29157	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03065	4.06;4.06;4.06	5.81	5.81	0.92471	.	0.076260	0.85682	D	0.000000	T	0.04092	0.0114	M	0.70787	2.145	0.48901	D	0.999729	B	0.22683	0.073	B	0.15052	0.012	T	0.23440	-1.0188	10	0.49607	T	0.09	-19.6967	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1452	P31629	ZEP2_HUMAN	I	1452	ENSP00000356576:M1452I;ENSP00000356575:M1452I;ENSP00000012134:M1452I	ENSP00000012134:M1452I	M	-	3	0	HIVEP2	143133213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.156000	0.42310	2.746000	0.94184	0.655000	0.94253	ATG		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			7	252	1	0	0.00198382	1	0.00203512	7	252					A	143091520	C	A	143091520	3	1	118	1	0	0	0	0	1	0	0	0	7217	594	21	3	3008	3	HIVEP2	6	143091520	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	11171674	143091520	28023547	30	37593											
TTLL2	83887	broad.mit.edu	37	chr6	167753613	167753613	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaacctcatttgatggcGgaagatgaaccttcaggggc	11	8	2	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:167753613G>A	ENST00000239587.5	+	3	313	c.225G>A	c.(223-225)gcG>gcA	p.A75A		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	75					cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.A75A(1)		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)		ATTTGATGGCGGAAGATGAAC	0.507																																						ENST00000239587.5																			1	Substitution - coding silent(1)	p.A75A(1)	lung(1)	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						c.(223-225)gcG>gcA		tubulin tyrosine ligase-like family, member 2							54	58	57					6																	167753613		2203	4300	6503	SO:0001819	synonymous_variant	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753613G>A	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.225G>A	6.37:g.167753613G>A							p.A75A	NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	313	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	75					B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	ENST00000239587.5	37	c.225G>A	CCDS5301.1																																																																																				0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		5	286	0	0	0	1	0	5	286					A	167753613	G	A	167753613	2	1	118	1	0	0	0	0	0	0	0	1	16781	1103	39	1		1	TTLL2	6	167753613	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	24662093	167753613	3361454	31	37594											
THBS2	7058	broad.mit.edu	37	chr6	169622382	169622382	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaccttgagggacacgccGgagtagccataggcccgcgt	13	14	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:169622382G>A	ENST00000366787.3	-	20	3432	c.3183C>T	c.(3181-3183)tcC>tcT	p.S1061S	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1061	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)		GGGACACGCCGGAGTAGCCAT	0.637																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(3181-3183)tcC>tcT		thrombospondin 2							46	42	44					6																	169622382		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169622382G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3183C>T	6.37:g.169622382G>A						XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	p.S1061S	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	20	3432	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	1061			TSP C-terminal.		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.3183C>T	CCDS34574.1																																																																																				0.637	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		6	105	0	0	0	1	0	6	105					A	169622382	G	A	169622382	2	1	118	1	0	0	0	0	0	0	0	1	15906	1103	39	1		1	THBS2	6	169622382	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	1868769	169622382	1492685	32	37595											
TNRC18	84629	broad.mit.edu	37	chr7	5348537	5348537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttcctctggctggagaccCgcagggccgccgggaggctg	16	15	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:5348537C>T	ENST00000430969.1	-	29	9017	c.8669G>A	c.(8668-8670)cGg>cAg	p.R2890Q	TNRC18_ENST00000399537.4_Missense_Mutation_p.R2890Q	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2890	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)		GCTGGAGACCCGCAGGGCCGC	0.692																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(8668-8670)cGg>cAg		trinucleotide repeat containing 18																																				SO:0001583	missense	84629						DNA binding	g.chr7:5348537C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.8669G>A	7.37:g.5348537C>T	ENSP00000395538:p.Arg2890Gln					TNRC18_ENST00000430969.1_Missense_Mutation_p.R2890Q	p.R2890Q			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	29	9017	-		Ovarian(82;0.142)	2890			BAH.		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.8669G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	c	14.86	2.660370	0.47572	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.11277	2.8;2.79	5.0	2.82	0.32997	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.02571	0.0078	N	0.00707	-1.245	0.28558	N	0.911263	B	0.14438	0.01	B	0.09377	0.004	T	0.43426	-0.9392	9	0.11794	T	0.64	.	5.5005	0.16827	0.0:0.335:0.0:0.665	.	2890	O15417	TNC18_HUMAN	Q	2890	ENSP00000382452:R2890Q;ENSP00000395538:R2890Q	ENSP00000382452:R2890Q	R	-	2	0	TNRC18	5315063	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.659000	0.61504	0.425000	0.26087	0.561000	0.74099	CGG		0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	65	0	0	0	1	0	4	65					T	5348537	C	T	5348537	3	4	118	1	0	0	0	0	1	0	0	0	16391	652	23	1	245	1	TNRC18	7	5348537	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		5348537	153790126	33	37596											
DNAH11	8701	broad.mit.edu	37	chr7	21631113	21631113	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagacgagaggcagccttcaCcttggaggacaagggtgatt	14	9	1	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:21631113C>T	ENST00000409508.3	+	14	2616	c.2585C>T	c.(2584-2586)aCc>aTc	p.T862I	DNAH11_ENST00000328843.6_Missense_Mutation_p.T862I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	862	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						GCAGCCTTCACCTTGGAGGAC	0.502									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2584-2586)aCc>aTc		dynein, axonemal, heavy chain 11							41	44	43					7																	21631113		2008	4151	6159	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21631113C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2585C>T	7.37:g.21631113C>T	ENSP00000475939:p.Thr862Ile					DNAH11_ENST00000409508.3_Missense_Mutation_p.T862I	p.T862I			Q96DT5	DYH11_HUMAN			14	2616	+			862			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2585C>T		.	.	.	.	.	.	.	.	.	.	C	1.792	-0.479214	0.04383	.	.	ENSG00000105877	ENST00000328843	T	0.23754	1.89	5.63	-1.61	0.08399	.	1.431370	0.03866	N	0.274805	T	0.13243	0.0321	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20306	-1.0279	9	0.30854	T	0.27	.	0.9212	0.01315	0.1893:0.2843:0.2844:0.242	.	862	Q96DT5	DYH11_HUMAN	I	862	ENSP00000330671:T862I	ENSP00000330671:T862I	T	+	2	0	DNAH11	21597638	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.302000	0.08221	-0.000000	0.14550	0.561000	0.74099	ACC		0.502	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		9	181	0	0	0	1	0	9	181					T	21631113	C	T	21631113	3	4	118	1	0	0	0	0	1	0	0	0	4615	507	18	2	2639	2	DNAH11	7	21631113	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	16282576	21631113	137507550	34	37597											
C7orf16	10842	broad.mit.edu	37	chr7	31735179	31735179	+	Frame_Shift_Del	DEL	A	A	-													cctgaatgttgagtcagaccAaaaaaaaccaaggaggaaag							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:31735179delA	ENST00000342032.3	+	3	807	c.179delA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					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)										GAGTCAGACCAAAAAAAACCA	0.438																																						ENST00000342032.3																			0											c.(178-180)cafs		protein phosphatase 1, regulatory subunit 17			,	4,0,4260		0,0,4,0,0,2128	142	138	140		,	3.6	0.8	7		141	1,3,8250		0,0,1,0,3,4123	no	codingComplex,intron	C7orf16	NM_006658.4,NM_001145123.2	,	0,0,5,0,3,6251	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,0.0938,0.0639	,	,	31735179	5,3,12510	2203	4300	6503	SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735179delA	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.179delA	7.37:g.31735179delA	ENSP00000340125:p.Gln60fs					PPP1R17_ENST00000409146.3_Intron	p.Q60fs	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN			3	807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Del	DEL	ENST00000342032.3	37	c.179delA	CCDS5436.1																																																																																				0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		8	609						8	609	---	---	---	---	-	31735179	A	-	31735179	7	5	118	1	0	1	0	1	0	0	0	0	2385	130	5	0	185	0	C7orf16	7	31735179	Frame_Shift_Del	DEL	A	TCGA-XD-AAUH-01A-42D-A40W-08	10104066	31735179	127403484	35	37598											
INHBA	3624	broad.mit.edu	37	chr7	41729994	41729994	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctgccctgcgggtgcttctGctgctggaagaggcggatgg	18	10	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:41729994G>A	ENST00000242208.4	-	3	781	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q179*|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	179					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						GGGTGCTTCTGCTGCTGGAAG	0.562										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(535-537)Cag>Tag		inhibin, beta A							101	94	97					7																	41729994		2203	4300	6503	SO:0001587	stop_gained	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729994G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.535C>T	7.37:g.41729994G>A	ENSP00000242208:p.Gln179*	TSP Lung(11;0.080)				INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q179*|AC005027.3_ENST00000416150.1_RNA	p.Q179*	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	781	-			179					Q14599	Nonsense_Mutation	SNP	ENST00000242208.4	37	c.535C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	38	6.897179	0.97920	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	.	.	.	5.81	5.81	0.92471	.	0.554170	0.20607	N	0.089047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-18.9698	20.0699	0.97718	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000242208:Q179X	Q	-	1	0	INHBA	41696519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.741000	0.93983	0.655000	0.94253	CAG		0.562	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			19	297	0	0	0	1	0	19	297					A	41729994	G	A	41729994	4	1	118	1	0	0	0	0	0	1	0	0	7771	1328	46	2	749	2	INHBA	7	41729994	Nonsense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	9994815	41729994	117408669	36	37599											
GLI3	2737	broad.mit.edu	37	chr7	42188061	42188061	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gataagtctgtccaggacttTcatcctctaaagaaagaaga	8	8	3	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:42188061T>A	ENST00000395925.3	-	3	215	c.131A>T	c.(130-132)gAa>gTa	p.E44V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	44					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						TCCAGGACTTTCATCCTCTAA	0.403									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(130-132)gAa>gTa		GLI family zinc finger 3							98	93	95					7																	42188061		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42188061T>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.131A>T	7.37:g.42188061T>A	ENSP00000379258:p.Glu44Val					GLI3_ENST00000479210.1_5'UTR	p.E44V	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			3	215	-			44					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.131A>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405126	0.83230	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T	0.17854	2.25	5.67	5.67	0.87782	.	0.101413	0.64402	D	0.000003	T	0.27559	0.0677	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.04281	-1.0963	10	0.87932	D	0	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	44	P10071	GLI3_HUMAN	V	44	ENSP00000379258:E44V	ENSP00000379258:E44V	E	-	2	0	GLI3	42154586	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.669000	0.83911	2.161000	0.67846	0.455000	0.32223	GAA		0.403	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		7	260	0	0	0	1	0	7	260					A	42188061	T	A	42188061	3	1	118	1	0	0	0	0	1	0	0	0	6468	1783	62	5	4663	5	GLI3	7	42188061	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	458067	42188061	116950602	37	37600											
FGL2	10875	broad.mit.edu	37	chr7	76825927	76825927	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cattatagttaccaacgtgtAaacgatatttgagaaactca	6	7	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:76825927A>T	ENST00000248598.5	-	2	1021	c.989T>A	c.(988-990)tTa>tAa	p.L330*	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	330	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACCAACGTGTAAACGATATTT	0.358																																						ENST00000248598.5																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						c.(988-990)tTa>tAa		fibrinogen-like 2							168	158	161					7																	76825927		2203	4300	6503	SO:0001587	stop_gained	10875				signal transduction	fibrinogen complex	receptor binding	g.chr7:76825927A>T	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.989T>A	7.37:g.76825927A>T	ENSP00000248598:p.Leu330*					CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron	p.L330*	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN			2	1021	-			330			Fibrinogen C-terminal.			Nonsense_Mutation	SNP	ENST00000248598.5	37	c.989T>A	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431927	0.62844	.	.	ENSG00000127951	ENST00000248598	.	.	.	6.03	6.03	0.97812	.	0.131312	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2196	0.82251	1.0:0.0:0.0:0.0	.	.	.	.	X	330	.	ENSP00000248598:L330X	L	-	2	0	FGL2	76663863	0.982000	0.34865	0.023000	0.16930	0.381000	0.30169	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	TTA		0.358	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682		13	417	0	0	0	1	0	13	417					T	76825927	A	T	76825927	4	4	118	1	0	0	0	0	0	1	0	0	5898	372	13	5	334	5	FGL2	7	76825927	Nonsense_Mutation	SNP	A	TCGA-XD-AAUH-01A-42D-A40W-08	34637866	76825927	82312736	38	37601											
WDR60	55112	broad.mit.edu	37	chr7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcatttttactgtttgccGgaacagcgcacggctcagtt	10	10	1	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715					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)		ACTGTTTGCCGGAACAGCGCA	0.502																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(2143-2145)Gga>Aga		WD repeat domain 60							144	148	146					7																	158716310		2177	4285	6462	SO:0001583	missense	55112							g.chr7:158716310G>A		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.2143G>A	7.37:g.158716310G>A	ENSP00000384290:p.Gly715Arg						p.G715R	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	17	2301	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	715					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.2143G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305740	0.23736	.	.	ENSG00000126870	ENST00000407559	D	0.86164	-2.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.954	D	0.95188	0.8305	10	0.87932	D	0	-33.8171	17.2998	0.87180	0.0:0.0:1.0:0.0	.	198;715	A4D230;Q8WVS4	.;WDR60_HUMAN	R	715	ENSP00000384290:G715R	ENSP00000384290:G715R	G	+	1	0	WDR60	158409071	1.000000	0.71417	0.187000	0.23214	0.081000	0.17604	7.228000	0.78079	2.407000	0.81776	0.655000	0.94253	GGA		0.502	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		5	397	0	0	0	1	0	5	397					A	158716310	G	A	158716310	3	1	118	1	0	0	0	0	1	0	0	0	17365	1117	39	1	2209	1	WDR60	7	158716310	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	81890383	158716310	422353	39	37602											
SMC5	23137	broad.mit.edu	37	chr9	72920223	72920223	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	atcatattccatcaaatgacTtaagagcctttgtatttgaa	5	7	2	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr9:72920223T>G	ENST00000361138.5	+	11	1583	c.1525T>G	c.(1525-1527)Tta>Gta	p.L509V		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	509	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						ATCAAATGACTTAAGAGCCTT	0.308																																						ENST00000361138.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						c.(1525-1527)Tta>Gta		structural maintenance of chromosomes 5							84	90	88					9																	72920223		2202	4299	6501	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72920223T>G	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.1525T>G	9.37:g.72920223T>G	ENSP00000354957:p.Leu509Val						p.L509V	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN			11	1583	+			509			Flexible hinge.		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.1525T>G	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.642987	0.67244	.	.	ENSG00000198887	ENST00000361138	T	0.26373	1.74	5.36	1.43	0.22495	RecF/RecN/SMC (1);	0.151160	0.43919	D	0.000502	T	0.27559	0.0677	M	0.61703	1.905	0.45883	D	0.998735	D	0.54207	0.965	P	0.48770	0.589	T	0.05241	-1.0897	10	0.62326	D	0.03	-7.6654	3.9845	0.09509	0.2939:0.1765:0.0:0.5296	.	509	Q8IY18	SMC5_HUMAN	V	509	ENSP00000354957:L509V	ENSP00000354957:L509V	L	+	1	2	SMC5	72110043	0.334000	0.24739	1.000000	0.80357	0.997000	0.91878	0.231000	0.17872	0.877000	0.35895	0.533000	0.62120	TTA		0.308	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110		13	376	0	0	0	1	0	13	376					G	72920223	T	G	72920223	3	3	118	1	0	0	0	0	1	0	0	0	14836	1606	56	4	1567	4	SMC5	9	72920223	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08		72920223	68293208	40	37603											
ERLIN1	10613	broad.mit.edu	37	chr10	101911917	101911917	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctctttgttttggatgaCgttctctccagagggttcaa	10	9	3	2	rs373292585		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr10:101911917C>T	ENST00000421367.2	-	11	3725	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	ERLIN1_ENST00000407654.3_Missense_Mutation_p.V340I	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	338					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)		TTTTGGATGACGTTCTCTCCA	0.458																																						ENST00000421367.2																			0											c.(1018-1020)Gtc>Atc		ER lipid raft associated 1							101	93	96					10																	101911917		2203	4300	6503	SO:0001583	missense	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101911917C>T	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.1018G>A	10.37:g.101911917C>T	ENSP00000410964:p.Val340Ile					ERLIN1_ENST00000407654.3_Missense_Mutation_p.V340I	p.V340I	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	11	3725	-		Colorectal(252;0.234)	338					B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	37	c.1018G>A	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990018	0.18966	.	.	ENSG00000107566	ENST00000421367;ENST00000407654	T;T	0.63417	-0.04;-0.04	5.61	0.201	0.15186	.	0.689394	0.13155	U	0.409529	T	0.33556	0.0867	N	0.08118	0	0.09310	N	0.999999	B;B	0.10296	0.0;0.003	B;B	0.06405	0.0;0.002	T	0.12502	-1.0545	10	0.30078	T	0.28	-15.3852	3.2164	0.06700	0.0833:0.2748:0.3616:0.2804	.	338;340	O75477;D3DR65	ERLN1_HUMAN;.	I	340	ENSP00000410964:V340I;ENSP00000384900:V340I	ENSP00000384900:V340I	V	-	1	0	ERLIN1	101901907	1.000000	0.71417	0.942000	0.38095	0.963000	0.63663	1.330000	0.33781	-0.138000	0.11434	-0.228000	0.12330	GTC		0.458	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		6	132	0	0	0	1	0	6	132					T	101911917	C	T	101911917	3	4	118	1	0	0	0	0	1	0	0	0	5250	536	19	1	32	1	ERLIN1	10	101911917	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		101911917	33622830	41	37604											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	A													tacagcagctggactgggagCagctgggcttgcagcagctg					rs548851553		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:1629152C>A	ENST00000399685.1	-	1	541	c.464G>T	c.(463-465)tGc>tTc	p.C155F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(463-465)tGc>tTc		keratin associated protein 5-3							130	142	138					11																	1629152		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629152C>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.464G>T	11.37:g.1629152C>A	ENSP00000382592:p.Cys155Phe						p.C155F	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	541	-		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)	155			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.464G>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	9.096	1.002952	0.19121	.	.	ENSG00000196224	ENST00000399685	T	0.01613	4.73	3.33	3.33	0.38152	.	.	.	.	.	T	0.16727	0.0402	H	0.97465	4.01	0.36390	D	0.86243	D	0.71674	0.998	D	0.70935	0.971	T	0.44159	-0.9346	9	0.72032	D	0.01	.	12.975	0.58532	0.0:1.0:0.0:0.0	.	155	Q6L8H2	KRA53_HUMAN	F	155	ENSP00000382592:C155F	ENSP00000382592:C155F	C	-	2	0	KRTAP5-3	1585728	.	.	0.662000	0.29724	0.024000	0.10985	.	.	1.809000	0.52856	0.281000	0.19383	TGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	923	1	0	1.12685e-05	1	1.20807e-05	7	923					A	1629152	C	A	1629152	3	1	118	1	0	0	0	0	1	0	0	0	8593	710	25	3	256	3	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		1629152	133377364	42	37605	231	2									
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A													gcagctggactgggagcagcTgggcttgcagcagctggact					rs75371407		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		keratin associated protein 5-3							127	139	135					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys						p.S154C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	537	-		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)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			9	917	0	0	0	1	0	9	917					A	1629156	T	A	1629156	3	1	118	1	0	0	0	0	1	0	0	0	8593	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	4	1629156	133377360	43	37606	231	2									
CPT1A	1374	broad.mit.edu	37	chr11	68549244	68549244	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggtaaggacggtacctgtcGtaacatcggccgtgtagtag	14	8	0	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:68549244G>A	ENST00000265641.5	-	11	1501	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	CPT1A_ENST00000376618.2_Silent_p.Y449Y|CPT1A_ENST00000540367.1_Silent_p.Y449Y|CPT1A_ENST00000539743.1_Silent_p.Y449Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	449					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTACCTGTCGTAACATCGGC	0.473																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1345-1347)taC>taT		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						317	253	275					11																	68549244		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68549244G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1347C>T	11.37:g.68549244G>A						CPT1A_ENST00000376618.2_Silent_p.Y449Y|CPT1A_ENST00000540367.1_Silent_p.Y449Y|CPT1A_ENST00000539743.1_Silent_p.Y449Y	p.Y449Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		11	1501	-	Esophageal squamous(3;3.28e-14)		449					Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.1347C>T	CCDS8185.1																																																																																				0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		25	551	0	0	0	1	0	25	551					A	68549244	G	A	68549244	2	1	118	1	0	0	0	0	0	0	0	1	3840	1140	40	1		1	CPT1A	11	68549244	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	66920088	68549244	66457272	44	37607											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276876	71276876	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgtgggggctccaaAgggggctgtggttcctgtgg	19	8	1	0	rs12788123		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682																																						ENST00000398531.1																			1	Substitution - coding silent(1)	p.K81K(1)	endometrium(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(241-243)aaA>aaG		keratin associated protein 5-10							51	72	65					11																	71276876		2140	4257	6397	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276876A>G	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.243A>G	11.37:g.71276876A>G						KRTAP5-10_ENST00000376536.4_Intron	p.K81K	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	268	+			81			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.243A>G	CCDS41684.1																																																																																				0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			6	422	0	0	0	1	0	6	422					G	71276876	A	G	71276876	2	3	118	1	0	0	0	0	0	0	0	1	8590	69	3	4		4	KRTAP5-10	11	71276876	Silent	SNP	A	TCGA-XD-AAUH-01A-42D-A40W-08	2727632	71276876	63729640	45	37608											
CCDC67	159989	broad.mit.edu	37	chr11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agatgcgggctttggagacaCgattagatcttcgggatcaa	13	7	2	3	rs374648091		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	46					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)				TTTGGAGACACGATTAGATCT	0.388																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)Cga>Tga		coiled-coil domain containing 67							105	107	106					11																	93088643		1879	4099	5978	SO:0001587	stop_gained	159989							g.chr11:93088643C>T	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.136C>T	11.37:g.93088643C>T	ENSP00000298050:p.Arg46*					CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*	p.R46*	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			3	236	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	46					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.136C>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645274	0.87859	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	.	.	.	5.54	1.18	0.20946	.	0.445552	0.20432	N	0.092454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.1073	0.14790	0.4125:0.4189:0.0919:0.0768	.	.	.	.	X	46	.	ENSP00000298050:R46X	R	+	1	2	CCDC67	92728291	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	1.260000	0.32968	0.656000	0.30886	0.491000	0.48974	CGA		0.388	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		11	189	0	0	0	1	0	11	189					T	93088643	C	T	93088643	4	4	118	1	0	0	0	0	0	1	0	0	2846	528	19	1	142	1	CCDC67	11	93088643	Nonsense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	21811767	93088643	41917873	46	37609											
E2F7	144455	broad.mit.edu	37	chr12	77423797	77423797	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgaccctgaccctgaCgctggtccctcctgcagact	8	18	1	4	rs368328521		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:77423797C>T	ENST00000322886.7	-	10	1933	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	E2F7_ENST00000416496.2_Silent_p.A566A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	566					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						CTGACCCTGACGCTGGTCCCT	0.582																																						ENST00000322886.7																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						c.(1696-1698)gcG>gcA		E2F transcription factor 7							100	92	94					12																	77423797		2203	4300	6503	SO:0001819	synonymous_variant	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77423797C>T	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.1698G>A	12.37:g.77423797C>T						E2F7_ENST00000416496.2_Silent_p.A566A	p.A566A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN			10	1933	-			566					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	ENST00000322886.7	37	c.1698G>A	CCDS9016.1																																																																																				0.582	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		12	372	0	0	0	1	0	12	372					T	77423797	C	T	77423797	2	4	118	1	0	0	0	0	0	0	0	1	4888	523	19	1		1	E2F7	12	77423797	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		77423797	56428098	47	37610											
ALX1	8092	broad.mit.edu	37	chr12	85674140	85674140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggagcacgttatggagaCgctggacaatgagtcctttt	12	8	1	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:85674140C>T	ENST00000316824.3	+	1	256	c.101C>T	c.(100-102)aCg>aTg	p.T34M		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	34					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)		GTTATGGAGACGCTGGACAAT	0.567																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(100-102)aCg>aTg		ALX homeobox 1							67	66	67					12																	85674140		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674140C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"Homeoboxes / PRD class"	1494	protein-coding gene	gene with protein product		601527	"cartilage paired-class homeoprotein 1"	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.101C>T	12.37:g.85674140C>T	ENSP00000315417:p.Thr34Met						p.T34M	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	256	+			34					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.101C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409340	0.62399	.	.	ENSG00000180318	ENST00000316824	D	0.92545	-3.06	5.48	5.48	0.80851	.	0.091744	0.85682	D	0.000000	D	0.85522	0.5716	N	0.14661	0.345	0.44117	D	0.996899	D	0.54047	0.964	B	0.41299	0.353	D	0.88533	0.3104	10	0.87932	D	0	.	15.694	0.77481	0.0:0.8631:0.1369:0.0	.	34	Q15699	ALX1_HUMAN	M	34	ENSP00000315417:T34M	ENSP00000315417:T34M	T	+	2	0	ALX1	84198271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.605000	0.46283	2.562000	0.86427	0.650000	0.86243	ACG		0.567	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		13	330	0	0	0	1	0	13	330					T	85674140	C	T	85674140	3	4	118	1	0	0	0	0	1	0	0	0	556	536	19	1	103	1	ALX1	12	85674140	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	8250343	85674140	48177755	48	37611											
RNF10	9921	broad.mit.edu	37	chr12	121000776	121000776	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agaggctctgtcgggattggCcggaagcagaagggaggtca	18	7	2	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:121000776C>T	ENST00000325954.4	+	8	1618	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RNF10_ENST00000413266.2_Missense_Mutation_p.A386V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	386					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGGGATTGGCCGGAAGCAGA	0.542																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1156-1158)gCc>gTc		ring finger protein 10							151	134	140					12																	121000776		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121000776C>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1157C>T	12.37:g.121000776C>T	ENSP00000322242:p.Ala386Val					RNF10_ENST00000413266.2_Missense_Mutation_p.A386V	p.A386V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			8	1618	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		386					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1157C>T	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.715693|2.715693	0.48622|0.48622	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266|ENST00000537740	D;D|.	0.89270|.	-2.49;-2.48|.	5.5|5.5	4.55|4.55	0.56014|0.56014	.|.	0.823828|.	0.11705|.	N|.	0.537503|.	T|T	0.46328|0.46328	0.1387|0.1387	L|L	0.29908|0.29908	0.895|0.895	0.35161|0.35161	D|D	0.770683|0.770683	B;B|.	0.21071|.	0.051;0.039|.	B;B|.	0.24541|.	0.054;0.019|.	T|T	0.50833|0.50833	-0.8781|-0.8781	10|5	0.22706|.	T|.	0.39|.	.|.	10.6165|10.6165	0.45454|0.45454	0.2039:0.7961:0.0:0.0|0.2039:0.7961:0.0:0.0	.|.	386;386|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	V|S	386;386;116;386|64	ENSP00000322242:A386V;ENSP00000415682:A386V|.	ENSP00000322242:A386V|.	A|P	+|+	2|1	0|0	RNF10|RNF10	119485159|119485159	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	1.456000|1.456000	0.35201|0.35201	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.542	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			5	221	0	0	0	1	0	5	221					T	121000776	C	T	121000776	3	4	118	1	0	0	0	0	1	0	0	0	13472	739	26	2	1187	2	RNF10	12	121000776	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08	35326636	121000776	12851119	49	37612											
TMEM132D	121256	broad.mit.edu	37	chr12	130185196	130185196	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacggggaggtaggtgggcaGcaaggaaaacctctggatgc	17	8	1	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	43					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)		TAGGTGGGCAGCAAGGAAAAC	0.557																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(127-129)Ctg>Ttg		transmembrane protein 132D							117	80	93					12																	130185196		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130185196G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.127C>T	12.37:g.130185196G>A							p.L43L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	453	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	43					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.127C>T	CCDS9266.1																																																																																				0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		10	185	0	0	0	1	0	10	185					A	130185196	G	A	130185196	2	1	118	1	0	0	0	0	0	0	0	1	16099	962	34	2		2	TMEM132D	12	130185196	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	9184420	130185196	3666699	50	37613											
HMGB1	3146	broad.mit.edu	37	chr13	31035498	31035500	+	In_Frame_Del	DEL	TCA	TCA	-													ctgcgctagaaccaacttatTcatcatcatcatcttcttct					rs557859009	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr13:31035498_31035500delTCA	ENST00000405805.1	-	5	1582_1584	c.642_644delTGA	c.(640-645)gatgaa>gaa	p.D214del	HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000339872.4_In_Frame_Del_p.D214del|HMGB1_ENST00000399494.1_In_Frame_Del_p.D214del|HMGB1_ENST00000341423.5_In_Frame_Del_p.D214del			P09429	HMGB1_HUMAN	high mobility group box 1	214	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		ACCAACTTATTCATCATCAtcat	0.369														3	0.000599042	0.0	0.0	5008	,	,		18552	0.002		0.0	False		,,,				2504	0.001					ENST00000405805.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8						c.(640-645)gaa>ga		high mobility group box 1																																				SO:0001651	inframe_deletion	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31035498_31035500delTCA	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.642_644delTGA	13.37:g.31035507_31035509delTCA	ENSP00000384678:p.Asp214del					HMGB1_ENST00000339872.4_In_Frame_Del_p.DE214del|HMGB1_ENST00000341423.5_In_Frame_Del_p.DE214del|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000399494.1_In_Frame_Del_p.DE214del	p.DE214del			P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	5	1582_1584	-		Lung SC(185;0.0257)	214			Asp/Glu-rich (acidic).		A5D8W9|Q14321|Q5T7C3|Q6IBE1	In_Frame_Del	DEL	ENST00000405805.1	37	c.642_644delTGA	CCDS9335.1																																																																																				0.369	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2	NM_002128		7	106						7	106	---	---	---	---	-	31035500	TCA	-	31035498	7	5	118	1	0	1	0	1	0	0	0	0	7255	1783	62	0	7	0	HMGB1	13	31035498	In_Frame_Del	DEL	TCA	TCGA-XD-AAUH-01A-42D-A40W-08		31035498	84134380	51	37614											
DYNC1H1	1778	broad.mit.edu	37	chr14	102445788	102445788	+	Frame_Shift_Del	DEL	T	T	-													attagcaatgcagtggctccTttttttaagtcctacattag							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr14:102445788delT	ENST00000360184.4	+	3	641	c.477delT	c.(475-477)cctfs	p.P159fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	159	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						CAGTGGCTCCTTTTTTTAAGT	0.408																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(475-477)ccfs		dynein, cytoplasmic 1, heavy chain 1							107	108	108					14																	102445788		2203	4300	6503	SO:0001589	frameshift_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102445788delT	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.477delT	14.37:g.102445788delT	ENSP00000348965:p.Pro159fs						p.P159fs	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			3	641	+			159			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Frame_Shift_Del	DEL	ENST00000360184.4	37	c.477delT	CCDS9966.1																																																																																				0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		7	458						7	458	---	---	---	---	-	102445788	T	-	102445788	7	5	118	1	0	1	0	1	0	0	0	0	4857	1596	56	0	487	0	DYNC1H1	14	102445788	Frame_Shift_Del	DEL	T	TCGA-XD-AAUH-01A-42D-A40W-08		102445788	4903752	52	37615											
TLN2	83660	broad.mit.edu	37	chr15	63054530	63054530	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accatgctggagagttcatcGtacctcattcgcactgcacg	9	13	2	1	rs138708550		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:63054530G>A	ENST00000561311.1	+	38	5069	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	TLN2_ENST00000472902.1_Silent_p.S6S|TLN2_ENST00000306829.6_Silent_p.S1613S			Q9Y4G6	TLN2_HUMAN	talin 2	1613					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						AGAGTTCATCGTACCTCATTC	0.542																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(4837-4839)tcG>tcA		talin 2		G		1,4405	2.1+/-5.4	0,1,2202	255	217	230		4839	-3.7	1	15	dbSNP_134	230	0,8600		0,0,4300	no	coding-synonymous	TLN2	NM_015059.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1613/2543	63054530	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63054530G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4839G>A	15.37:g.63054530G>A						TLN2_ENST00000306829.6_Silent_p.S1613S|TLN2_ENST00000472902.1_Silent_p.S6S	p.S1613S			Q9Y4G6	TLN2_HUMAN			38	5069	+			1613					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.4839G>A	CCDS32261.1																																																																																				0.542	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			23	605	0	0	0	1	0	23	605					A	63054530	G	A	63054530	2	1	118	1	0	0	0	0	0	0	0	1	16000	1132	40	1		1	TLN2	15	63054530	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		63054530	39476862	53	37616											
SPESP1	246777	broad.mit.edu	37	chr15	69238075	69238075	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaacatgtttattctataGcatcaaagggatcaaaattt	5	6	3	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:69238075G>A	ENST00000310673.3	+	2	356	c.202G>A	c.(202-204)Gca>Aca	p.A68T	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|SPESP1_ENST00000560188.1_3'UTR|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	68					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						TTATTCTATAGCATCAAAGGG	0.368																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(202-204)Gca>Aca		sperm equatorial segment protein 1							105	107	106					15																	69238075		2200	4298	6498	SO:0001583	missense	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238075G>A	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.202G>A	15.37:g.69238075G>A	ENSP00000312284:p.Ala68Thr					RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	p.A68T	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	356	+			68					Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	c.202G>A	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	6.226	0.409882	0.11812	.	.	ENSG00000258484	ENST00000310673	T	0.23147	1.92	5.21	-0.685	0.11328	.	1.519990	0.04196	N	0.329090	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.23716	0.048	T	0.28681	-1.0036	10	0.40728	T	0.16	-1.6811	5.0363	0.14436	0.2807:0.2783:0.441:0.0	.	68	Q6UW49	SPESP_HUMAN	T	68	ENSP00000312284:A68T	ENSP00000312284:A68T	A	+	1	0	SPESP1	67025129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.047000	0.14056	-0.013000	0.14199	-0.137000	0.14449	GCA		0.368	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		13	366	0	0	0	1	0	13	366					A	69238075	G	A	69238075	3	1	118	1	0	0	0	0	1	0	0	0	15092	971	34	2	208	2	SPESP1	15	69238075	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	6183545	69238075	33293317	54	37617											
MYH11	4629	broad.mit.edu	37	chr16	15931828	15931828	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acggaggcttcgttgaggcaCgtcagctccgccatgtcctc	12	14	1	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:15931828C>T	ENST00000300036.5	-	2	391	c.282G>A	c.(280-282)acG>acA	p.T94T	MYH11_ENST00000396324.3_Silent_p.T94T|MYH11_ENST00000576790.2_Silent_p.T94T|MYH11_ENST00000452625.2_Silent_p.T94T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	94	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						CGTTGAGGCACGTCAGCTCCG	0.547			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"myosin, heavy polypeptide 11, smooth muscle"			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(280-282)acG>acA		myosin, heavy chain 11, smooth muscle							241	195	210					16																	15931828		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15931828C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.282G>A	16.37:g.15931828C>T						MYH11_ENST00000300036.5_Silent_p.T94T|MYH11_ENST00000576790.1_Silent_p.T94T|MYH11_ENST00000452625.2_Silent_p.T94T|MYH11_ENST00000396324.3_Silent_p.T94T	p.T94T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			2	388	-			94			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.282G>A	CCDS10565.1																																																																																				0.547	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		16	411	0	0	0	1	0	16	411					T	15931828	C	T	15931828	2	4	118	1	0	0	0	0	0	0	0	1	10072	523	19	1		1	MYH11	16	15931828	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		15931828	74422925	55	37618											
ATP2A1	487	broad.mit.edu	37	chr16	28909687	28909687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactggccgggacaccctgcGctgcttggccctggccaccc	12	19	0	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:28909687G>A	ENST00000357084.3	+	14	1946	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R560H|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R435H	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	560					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACACCCTGCGCTGCTTGGCC	0.637																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1678-1680)cGc>cAc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							42	47	45					16																	28909687		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28909687G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1679G>A	16.37:g.28909687G>A	ENSP00000349595:p.Arg560His					ATP2A1_ENST00000536376.1_Missense_Mutation_p.R435H|ATP2A1_ENST00000357084.3_Missense_Mutation_p.R560H	p.R560H	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			14	1863	+			560					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1679G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006056	0.93287	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.94862	-3.54;-3.54;-3.54	5.43	4.46	0.54185	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	H	0.99777	4.77	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	.	15.1782	0.72931	0.0:0.142:0.858:0.0	.	435;560;560	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	H	560;560;597;435	ENSP00000349595:R560H;ENSP00000378879:R560H;ENSP00000443101:R435H	ENSP00000349595:R560H	R	+	2	0	ATP2A1	28817188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.735000	0.98825	1.267000	0.44247	0.655000	0.94253	CGC		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		12	230	0	0	0	1	0	12	230					A	28909687	G	A	28909687	3	1	118	1	0	0	0	0	1	0	0	0	1137	1087	38	1	1733	1	ATP2A1	16	28909687	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	12977859	28909687	61445066	56	37619											
SETD1A	9739	broad.mit.edu	37	chr16	30978877	30978877	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaggaaaagaggcctcGtccctccactcctgctgagg	12	13	0	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:30978877G>A	ENST00000262519.8	+	10	3424	c.2738G>A	c.(2737-2739)cGt>cAt	p.R913H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	913	Glu-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						AAGAGGCCTCGTCCCTCCACT	0.557																																						ENST00000262519.8																			0				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						c.(2737-2739)cGt>cAt		SET domain containing 1A							73	64	67					16																	30978877		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30978877G>A	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.2738G>A	16.37:g.30978877G>A	ENSP00000262519:p.Arg913His						p.R913H	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			10	3424	+			913			Glu-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2738G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218472	0.79464	.	.	ENSG00000099381	ENST00000262519	T	0.57752	0.38	5.49	5.49	0.81192	.	0.142143	0.45867	D	0.000336	T	0.72187	0.3429	M	0.68593	2.085	0.52501	D	0.999954	D	0.89917	1.0	D	0.85130	0.997	T	0.73575	-0.3939	10	0.87932	D	0	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	913	O15047	SET1A_HUMAN	H	913	ENSP00000262519:R913H	ENSP00000262519:R913H	R	+	2	0	SETD1A	30886378	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	8.812000	0.91959	2.857000	0.98124	0.650000	0.86243	CGT		0.557	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		23	454	0	0	0	1	0	23	454					A	30978877	G	A	30978877	3	1	118	1	0	0	0	0	1	0	0	0	14180	1145	40	1	2772	1	SETD1A	16	30978877	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	2069190	30978877	59375876	57	37620											
HEATR3	55027	broad.mit.edu	37	chr16	50128699	50128699	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caatggcctccaagaacattTcccaggtaagagttttaaaa	7	9	0	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:50128699T>C	ENST00000299192.7	+	12	1785	c.1594T>C	c.(1594-1596)Tcc>Ccc	p.S532P	HEATR3_ENST00000285767.4_Missense_Mutation_p.S446P|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	532										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAAGAACATTTCCCAGGTAAG	0.308																																						ENST00000299192.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1594-1596)Tcc>Ccc		HEAT repeat containing 3							86	91	89					16																	50128699		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50128699T>C	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.1594T>C	16.37:g.50128699T>C	ENSP00000299192:p.Ser532Pro					HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.S446P	p.S532P	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN			12	1785	+			532					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1594T>C	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633940	0.29068	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.64260	-0.09;-0.09	5.92	3.27	0.37495	Armadillo-type fold (1);	0.267227	0.44902	N	0.000418	T	0.40196	0.1107	N	0.12746	0.255	0.32459	N	0.544366	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.0	T	0.36601	-0.9741	10	0.30854	T	0.27	.	9.138	0.36886	0.0:0.3849:0.0:0.6151	.	446;532	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	P	446;532	ENSP00000285767:S446P;ENSP00000299192:S532P	ENSP00000285767:S446P	S	+	1	0	HEATR3	48686200	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.500000	0.22562	0.324000	0.23333	0.533000	0.62120	TCC		0.308	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		14	457	0	0	0	1	0	14	457					C	50128699	T	C	50128699	3	2	118	1	0	0	0	0	1	0	0	0	7059	1783	62	4	1640	4	HEATR3	16	50128699	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	19149822	50128699	40226054	58	37621											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	12	13	1	0	rs28934575|rs397516437		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	232	0	0	0	1	0	4	232					T	7577548	C	T	7577548	3	4	118	1	0	0	0	0	1	0	0	0	16434	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		7577548	73617662	59	37622											
JAK3	3718	broad.mit.edu	37	chr19	17945947	17945947	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcactcagcttgatgaagggCgggctcccatcagccccctc	10	16	3	2	rs200499852		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000458235.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3	664	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"acute megakaryocytic leukemia, ETP ALL"		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1990-1992)ccG>ccA		Janus kinase 3		C		0,4406		0,0,2203	49	48	48		1992	-9.8	0.1	19		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAK3	NM_000215.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		664/1125	17945947	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17945947C>T	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.1992G>A	19.37:g.17945947C>T						JAK3_ENST00000534444.1_Silent_p.P664P|JAK3_ENST00000527670.1_Silent_p.P664P	p.P664P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			15	2091	-			664			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1992G>A	CCDS12366.1																																																																																				0.637	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		9	190	0	0	0	1	0	9	190					T	17945947	C	T	17945947	2	4	118	1	0	0	0	0	0	0	0	1	7969	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		17945947	41183036	60	37623											
ZNF99	7652	broad.mit.edu	37	chr19	22941336	22941336	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgctaaaagctttgcTgcattcttcacatttgtagg	7	7	2	0	rs386808002|rs188302239	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:22941336T>C	ENST00000596209.1	-	4	1465	c.1375A>G	c.(1375-1377)Agc>Ggc	p.S459G	ZNF99_ENST00000397104.3_Missense_Mutation_p.S368G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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)				AAAGCTTTGCTGCATTCTTCA	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1102-1104)Agc>Ggc		zinc finger protein 99																																				SO:0001583	missense	7652							g.chr19:22941336T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1375A>G	19.37:g.22941336T>C	ENSP00000472969:p.Ser459Gly					ZNF99_ENST00000596209.1_Missense_Mutation_p.S459G	p.S368G							5	1101	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1102A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.005	-2.143342	0.00332	.	.	ENSG00000213973	ENST00000397104	T	0.07688	3.17	1.28	0.0685	0.14370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.00514	-1.41	0.20074	N	0.999934	B	0.02656	0.0	B	0.01281	0.0	T	0.44636	-0.9315	9	0.02654	T	1	.	3.8246	0.08849	0.0:0.5767:0.2474:0.1759	.	368	A8MXY4	ZNF99_HUMAN	G	368	ENSP00000380293:S368G	ENSP00000380293:S368G	S	-	1	0	ZNF99	22733176	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	0.289000	0.18957	-0.133000	0.11537	-0.751000	0.03497	AGC		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	199	0	0	0	1	0	4	199					C	22941336	T	C	22941336	3	2	118	1	0	0	0	0	1	0	0	0	18257	1580	55	4	2022	4	ZNF99	19	22941336	Missense_Mutation	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	4995389	22941336	36187647	61	37624											
ZNF675	171392	broad.mit.edu	37	chr19	23836697	23836697	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcggttaaaagctttTccacattcttcacatttgta	7	8	2	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:23836697T>G	ENST00000359788.4	-	4	1206	c.1038A>C	c.(1036-1038)ggA>ggC	p.G346G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	346					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)				TAAAAGCTTTTCCACATTCTT	0.383																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1036-1038)ggA>ggC		zinc finger protein 675							53	55	54					19																	23836697		2203	4300	6503	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836697T>G		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.1038A>C	19.37:g.23836697T>G						ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.G346G	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1206	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	346					Q8N211	Silent	SNP	ENST00000359788.4	37	c.1038A>C	CCDS32981.1																																																																																				0.383	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		5	255	0	0	0	1	0	5	255					G	23836697	T	G	23836697	2	3	118	1	0	0	0	0	0	0	0	1	18135	1770	62	4		4	ZNF675	19	23836697	Silent	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	895361	23836697	35292286	62	37625			1	31		2	2	28	T		6.45396e-05
ZNF675	171392	broad.mit.edu	37	chr19	23836724	23836724	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacatttgtagggtttTtctccagtatgaattctctt	6	8	4	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:23836724T>C	ENST00000359788.4	-	4	1179	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	337					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)				TGTAGGGTTTTTCTCCAGTAT	0.378																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1009-1011)gaA>gaG		zinc finger protein 675							47	50	49					19																	23836724		2203	4300	6503	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836724T>C		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.1011A>G	19.37:g.23836724T>C						ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.E337E	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1179	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	337					Q8N211	Silent	SNP	ENST00000359788.4	37	c.1011A>G	CCDS32981.1																																																																																				0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		6	244	0	0	0	1	0	6	244					C	23836724	T	C	23836724	2	2	118	1	0	0	0	0	0	0	0	1	18135	1838	64	4		4	ZNF675	19	23836724	Silent	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	27	23836724	35292259	63	37626			1	31		2	2	28	T		6.45396e-05
ZFP36	7538	broad.mit.edu	37	chr19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-													gccctctggccgccggacctCaccaccaccaccaggcctgg							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:39898948_39898950delCAC	ENST00000248673.3	+	2	648_650	c.590_592delCAC	c.(589-594)tcacca>tca	p.P201del	MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_In_Frame_Del_p.P207del	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	201					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(607-612)tca>t		ZFP36 ring finger protein				17,4235		5,7,2114						3.3	0.1			74	14,8216		2,10,4103	no	coding	ZFP36	NM_003407.2		7,17,6217	A1A1,A1R,RR		0.1701,0.3998,0.2484				31,12451				SO:0001651	inframe_deletion	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898948_39898950delCAC	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.590_592delCAC	19.37:g.39898957_39898959delCAC	ENSP00000248673:p.Pro201del					ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del	p.SP203del			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	682_684	+	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)		197					B2RA54	In_Frame_Del	DEL	ENST00000248673.3	37	c.608_610delCAC																																																																																					0.685	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				8	1057						8	1057	---	---	---	---	-	39898950	CAC	-	39898948	7	5	118	1	0	1	0	1	0	0	0	0	17698	838	29	0	596	0	ZFP36	19	39898948	In_Frame_Del	DEL	CAC	TCGA-XD-AAUH-01A-42D-A40W-08	16062224	39898948	19230035	64	37627											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	12	14	1	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214	180	192					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	846	0	0	0	1	0	6	846					A	40395919	G	A	40395919	3	1	118	1	0	0	0	0	1	0	0	0	5803	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	496971	40395919	18733064	65	37628											
LIG1	3978	broad.mit.edu	37	chr19	48665600	48665600	+	Frame_Shift_Del	DEL	A	A	-													taccctctttcttggggtggAaaaatgacctagaggagcat							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:48665600delA	ENST00000263274.7	-	3	445	c.26delT	c.(25-27)ttcfs	p.F9fs	LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Frame_Shift_Del_p.F9fs|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	9					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)	CTTGGGGTGGAAAAATGACCT	0.453								Nucleotide excision repair (NER)																														ENST00000263274.7																			0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(25-27)tcfs	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						126	125	125					19																	48665600		2203	4300	6503	SO:0001589	frameshift_variant	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48665600delA		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.26delT	19.37:g.48665600delA	ENSP00000263274:p.Phe9fs					LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000536218.1_Frame_Shift_Del_p.F9fs	p.F9fs	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	3	445	-		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)	9					B2RAI8|Q2TB12|Q32P23	Frame_Shift_Del	DEL	ENST00000263274.7	37	c.26delT	CCDS12711.1																																																																																				0.453	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		7	532						7	532	---	---	---	---	-	48665600	A	-	48665600	7	5	118	1	0	1	0	1	0	0	0	0	8813	246	9	0	2837	0	LIG1	19	48665600	Frame_Shift_Del	DEL	A	TCGA-XD-AAUH-01A-42D-A40W-08	8269681	48665600	10463383	66	37629											
IZUMO1	284359	broad.mit.edu	37	chr19	49245081	49245081	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	tgatgatcgtggctgggctgGaattcacagagcccagctcg	14	10	1	3			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:49245081G>C	ENST00000332955.2	-	8	1266	c.719C>G	c.(718-720)tCc>tGc	p.S240C	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	240	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGCTGGGCTGGAATTCACAGA	0.607																																						ENST00000332955.2																			0				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(718-720)tCc>tGc		izumo sperm-egg fusion 1							46	45	45					19																	49245081		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49245081G>C	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.719C>G	19.37:g.49245081G>C	ENSP00000327786:p.Ser240Cys						p.S240C	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	8	1266	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	240			Ig-like C2-type.		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.719C>G	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764786	0.69878	.	.	ENSG00000182264	ENST00000332955	D	0.84223	-1.82	5.26	-1.64	0.08318	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.688430	0.01088	N	0.005125	D	0.86594	0.5970	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	P	0.57468	0.821	T	0.76751	-0.2844	10	0.56958	D	0.05	0.0117	15.0773	0.72087	0.0:0.0:0.1984:0.8016	.	240	Q8IYV9	IZUM1_HUMAN	C	240	ENSP00000327786:S240C	ENSP00000327786:S240C	S	-	2	0	IZUMO1	53936893	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.261000	0.08694	-0.282000	0.09128	0.561000	0.74099	TCC		0.607	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		8	173	0	0	0	1	0	8	173					C	49245081	G	C	49245081	3	2	118	1	0	0	0	0	1	0	0	0	7963	1174	41	5	345	5	IZUMO1	19	49245081	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	579481	49245081	9883902	67	37630											
ZNF347	84671	broad.mit.edu	37	chr19	53644779	53644779	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaacaccaaaggctttgccGcactcattacacttgtaagg	8	12	1	0	rs77716783	byFrequency	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:53644779G>A	ENST00000334197.7	-	5	1370	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	ZNF347_ENST00000601469.2_Silent_p.C435C|ZNF347_ENST00000452676.2_Silent_p.C435C|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	434					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)		AGGCTTTGCCGCACTCATTAC	0.423													G|||	6	0.00119808	0.0	0.0	5008	,	,		22122	0.005		0.001	False		,,,				2504	0.0				Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1303-1305)tgC>tgT		zinc finger protein 347		G	,,	0,4406		0,0,2203	130	130	130		1305,1305,1302	0.6	0	19	dbSNP_132	130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF347	NM_001172674.1,NM_001172675.1,NM_032584.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	435/841,435/841,434/840	53644779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644779G>A	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.1302C>T	19.37:g.53644779G>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.C435C|ZNF347_ENST00000334197.7_Silent_p.C434C	p.C435C	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	1731	-			434					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1305C>T	CCDS33097.1																																																																																				0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		23	532	0	0	0	1	0	23	532					A	53644779	G	A	53644779	2	1	118	1	0	0	0	0	0	0	0	1	17914	1079	38	1		1	ZNF347	19	53644779	Silent	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	4399698	53644779	5484204	68	37631											
CRYZL1	9946	broad.mit.edu	37	chr21	34975784	34975784	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagagctgtataggcacGcactccatcccgaatgcttc	9	13	0	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:34975784G>A	ENST00000381554.3	-	7	476	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	CRYZL1_ENST00000445393.1_Missense_Mutation_p.R93C|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R116C|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000361534.2_Missense_Mutation_p.R155C|CRYZL1_ENST00000381540.3_Missense_Mutation_p.R131C	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	131					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						GTATAGGCACGCACTCCATCC	0.423																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(463-465)Cgt>Tgt		crystallin, zeta (quinone reductase)-like 1							235	186	203					21																	34975784		2203	4300	6503	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34975784G>A	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"quinone reductase-like 1"	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.391C>T	21.37:g.34975784G>A	ENSP00000370966:p.Arg131Cys					CRYZL1_ENST00000381540.3_Missense_Mutation_p.R131C|CRYZL1_ENST00000381554.3_Missense_Mutation_p.R131C|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R116C|CRYZL1_ENST00000445393.1_Missense_Mutation_p.R93C	p.R155C			O95825	QORL1_HUMAN			8	602	-			131					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.463C>T	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.583221|1.583221	0.28268|0.28268	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000440526|ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000426935;ENST00000431177;ENST00000417979	.|T;T;T;T;T;T;T;T	.|0.40476	.|1.59;1.59;1.59;1.59;1.59;1.03;1.03;1.03	5.41|5.41	4.53|4.53	0.55603|0.55603	.|GroES-like (1);	.|0.269718	.|0.34676	.|N	.|0.003765	T|T	0.42291|0.42291	0.1196|0.1196	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22604	.|0.019;0.072	.|B;B	.|0.22601	.|0.036;0.04	T|T	0.39961|0.39961	-0.9588|-0.9588	5|10	.|0.72032	.|D	.|0.01	-14.8776|-14.8776	12.8285|12.8285	0.57733|0.57733	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.	.|131;155	.|O95825;A6NHJ8	.|QORL1_HUMAN;.	V|C	74|131;116;131;93;155;131;79;131;79	.|ENSP00000370966:R131C;ENSP00000290244:R116C;ENSP00000370951:R131C;ENSP00000399730:R93C;ENSP00000355075:R155C;ENSP00000387660:R79C;ENSP00000405510:R131C;ENSP00000402844:R79C	.|ENSP00000290244:R116C	A|R	-|-	2|1	0|0	CRYZL1|CRYZL1	33897654|33897654	0.913000|0.913000	0.31002|0.31002	0.545000|0.545000	0.28153|0.28153	0.516000|0.516000	0.34256|0.34256	2.811000|2.811000	0.47986|0.47986	1.276000|1.276000	0.44395|0.44395	0.655000|0.655000	0.94253|0.94253	GCG|CGT		0.423	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		5	347	0	0	0	1	0	5	347					A	34975784	G	A	34975784	3	1	118	1	0	0	0	0	1	0	0	0	3932	1087	38	1	686	1	CRYZL1	21	34975784	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08		34975784	13154111	69	37632											
DYRK1A	1859	broad.mit.edu	37	chr21	38884243	38884243	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	caatttcctgctcctcttggTtggtcaggcactgaagctcc	9	13	2	1			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:38884243T>A	ENST00000398960.2	+	11	1776	c.1701T>A	c.(1699-1701)ggT>ggA	p.G567G	DYRK1A_ENST00000455387.2_Silent_p.G339G|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Silent_p.G558G|DYRK1A_ENST00000398956.2_Missense_Mutation_p.L526M	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	567					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						CTCCTCTTGGTTGGTCAGGCA	0.428																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000398956.2																			0				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						c.(1576-1578)Ttg>Atg		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							89	82	85					21																	38884243		2203	4300	6503	SO:0001819	synonymous_variant	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38884243T>A	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.1701T>A	21.37:g.38884243T>A						DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.3_Silent_p.G558G|DYRK1A_ENST00000398960.2_Silent_p.G567G|DYRK1A_ENST00000455387.2_Silent_p.G339G	p.L526M			Q13627	DYR1A_HUMAN			10	1576	+			526					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.1576T>A	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372020	0.24857	.	.	ENSG00000157540	ENST00000398956	T	0.57907	0.37	5.54	-3.43	0.04810	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.12142	-1.0559	8	0.40728	T	0.16	.	1.1146	0.01711	0.2244:0.3067:0.1152:0.3537	.	526	Q13627-3	.	M	526	ENSP00000381929:L526M	ENSP00000381929:L526M	L	+	1	2	DYRK1A	37806113	0.958000	0.32768	0.989000	0.46669	0.154000	0.21943	0.013000	0.13310	-0.443000	0.07180	-0.316000	0.08728	TTG		0.428	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		12	307	0	0	0	1	0	12	307					A	38884243	T	A	38884243	2	1	118	1	0	0	0	0	0	0	0	1	4870	1722	60	5		5	DYRK1A	21	38884243	Silent	SNP	T	TCGA-XD-AAUH-01A-42D-A40W-08	3908459	38884243	9245652	70	37633											
PHKA2	5256	broad.mit.edu	37	chrX	18927007	18927007	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaccagcttctcacagtccaCgtcaccatggtcatctctgg	7	15	4	0			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:18927007C>T	ENST00000379942.4	-	21	2937	c.2272G>A	c.(2272-2274)Gtg>Atg	p.V758M		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	758					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)					TCACAGTCCACGTCACCATGG	0.463																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2272-2274)Gtg>Atg		phosphorylase kinase, alpha 2 (liver)							248	208	222					X																	18927007		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18927007C>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2272G>A	X.37:g.18927007C>T	ENSP00000369274:p.Val758Met						p.V758M	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			21	2937	-	Hepatocellular(33;0.183)		758					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2272G>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475659	0.26511	.	.	ENSG00000044446	ENST00000379942	D	0.91180	-2.8	5.55	-1.88	0.07713	Glycoside hydrolase 15-related (1);	0.477031	0.24262	N	0.040078	T	0.80623	0.4658	L	0.41356	1.27	0.09310	N	1	B	0.15141	0.012	B	0.17098	0.017	T	0.65043	-0.6264	10	0.37606	T	0.19	-1.2893	1.3188	0.02112	0.2636:0.2718:0.09:0.3746	.	758	P46019	KPB2_HUMAN	M	758	ENSP00000369274:V758M	ENSP00000369274:V758M	V	-	1	0	PHKA2	18836928	0.004000	0.15560	0.014000	0.15608	0.979000	0.70002	0.087000	0.14958	-0.446000	0.07149	0.529000	0.55759	GTG		0.463	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	941	0	0	0	1	0	6	941					T	18927007	C	T	18927007	3	4	118	1	0	0	0	0	1	0	0	0	11886	536	19	1	1487	1	PHKA2	23	18927007	Missense_Mutation	SNP	C	TCGA-XD-AAUH-01A-42D-A40W-08		18927007	136343553	71	37634											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	25	0	0	2			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(355-357)gaG>gaT		RNA binding motif protein 10							20	19	19					X																	47030582		2202	4294	6496	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030582G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp					RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron	p.E119D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1099	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.357G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		5	79	1	0	0.000602214	1	0.00063419	5	79					T	47030582	G	T	47030582	3	4	118	1	0	0	0	0	1	0	0	0	13161	991	35	3	367	3	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-XD-AAUH-01A-42D-A40W-08	28103575	47030582	108239978	72	37635											
TAF1	6872	broad.mit.edu	37	chrX	70603000	70603000	+	Frame_Shift_Del	DEL	A	A	-													aacctttgctaaagcacatcAaaaaaaaggccaaggtataa							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:70603000delA	ENST00000373790.4	+	12	1981	c.1930delA	c.(1930-1932)aaafs	p.K646fs	TAF1_ENST00000449580.1_Frame_Shift_Del_p.K646fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs	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	646	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)				AAAGCACATCAAAAAAAAGGC	0.408																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1930-1932)aafs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							44	42	43					X																	70603000		2203	4300	6503	SO:0001589	frameshift_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603000delA		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.1930delA	X.37:g.70603000delA	ENSP00000362895:p.Lys646fs					TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs	p.K646fs			P21675	TAF1_HUMAN			12	1981	+	Renal(35;0.156)	all_lung(315;0.000321)	646					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Frame_Shift_Del	DEL	ENST00000373790.4	37	c.1930delA	CCDS35325.1																																																																																				0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		10	273						10	273	---	---	---	---	-	70603000	A	-	70603000	7	5	118	1	0	1	0	1	0	0	0	0	15565	131	5	0	2039	0	TAF1	23	70603000	Frame_Shift_Del	DEL	A	TCGA-XD-AAUH-01A-42D-A40W-08	23572418	70603000	84667560	73	37636											
ARMCX3	51566	broad.mit.edu	37	chrX	100880152	100880154	+	In_Frame_Del	DEL	TGA	TGA	-													gccaggtataatgactggtcTgatgatgatgatgacagcaa							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:100880152_100880154delTGA	ENST00000341189.4	+	5	1049_1051	c.183_185delTGA	c.(181-186)tctgat>tct	p.D66del	RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_In_Frame_Del_p.D66del|ARMCX3_ENST00000471229.2_In_Frame_Del_p.D66del|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	66					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATGACTGGTCTGATGATGATGAT	0.517																																						ENST00000341189.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(181-186)tct>tc		armadillo repeat containing, X-linked 3																																				SO:0001651	inframe_deletion	51566					integral to membrane	binding	g.chrX:100880152_100880154delTGA	AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.183_185delTGA	X.37:g.100880161_100880163delTGA	ENSP00000340672:p.Asp66del					ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del	p.SD61del	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN			5	1049_1051	+			61					Q53HC6|Q7LCF5|Q9NPE4	In_Frame_Del	DEL	ENST00000341189.4	37	c.183_185delTGA	CCDS14489.1																																																																																				0.517	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057568.2	NM_016607		7	803						7	803	---	---	---	---	-	100880154	TGA	-	100880152	7	5	118	1	0	1	0	1	0	0	0	0	962	1567	55	0	185	0	ARMCX3	23	100880152	In_Frame_Del	DEL	TGA	TCGA-XD-AAUH-01A-42D-A40W-08	30277152	100880152	54390408	74	37637											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		11	238						11	238	---	---	---	---	-	119694119	GAG	-	119694117	7	5	118	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-XD-AAUH-01A-42D-A40W-08	18813965	119694117	35576443	75	37638											
MTOR	2475	broad.mit.edu	37	chr1	11193143	11193143	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctgatcaccttgtaCcagctgcggtcgtgctctgt	10	13	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:11193143C>G	ENST00000361445.4	-	38	5434	c.5358G>C	c.(5356-5358)tgG>tgC	p.W1786C	MTOR_ENST00000376838.1_5'Flank|MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1786	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TCACCTTGTACCAGCTGCGGT	0.577																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(5356-5358)tgG>tgC		mechanistic target of rapamycin (serine/threonine kinase)							135	127	130					1																	11193143		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11193143C>G	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.5358G>C	1.37:g.11193143C>G	ENSP00000354558:p.Trp1786Cys					MTOR_ENST00000495435.1_5'UTR	p.W1786C	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			38	5434	-			1786			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.5358G>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875568	0.51695	.	.	ENSG00000198793	ENST00000361445	T	0.72835	-0.69	5.65	4.74	0.60224	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.059201	0.64402	N	0.000001	T	0.73393	0.3581	M	0.80616	2.505	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71741	-0.4501	10	0.51188	T	0.08	-12.1729	16.7143	0.85394	0.0:0.8706:0.1294:0.0	.	1786	P42345	MTOR_HUMAN	C	1786	ENSP00000354558:W1786C	ENSP00000354558:W1786C	W	-	3	0	MTOR	11115730	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.456000	0.80751	1.367000	0.46095	0.655000	0.94253	TGG		0.577	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		33	388	0	0	0	1	0	33	388					G	11193143	C	G	11193143	3	3	119	1	0	0	0	0	1	0	0	0	9995	508	18	5	2375	5	MTOR	1	11193143	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		11193143	238057478	1	37639											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		8	303						8	303	---	---	---	---	-	46184898	AC	-	46184897	7	5	119	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-XD-AAUI-01A-42D-A40W-08	34991754	46184897	203065724	2	37640											
LRRC41	10489	broad.mit.edu	37	chr1	46752129	46752129	+	Frame_Shift_Del	DEL	A	A	-													ggtcccacgtagaacatgggAaaaaaaggcctccataaact							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:46752129delA	ENST00000343304.6	-	4	685	c.400delT	c.(400-402)tccfs	p.S134fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	134					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)					AGAACATGGGAAAAAAAGGCC	0.483																																						ENST00000343304.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(400-402)ccfs		leucine rich repeat containing 41							69	63	65					1																	46752129		2203	4300	6503	SO:0001589	frameshift_variant	10489							g.chr1:46752129delA	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.400delT	1.37:g.46752129delA	ENSP00000343298:p.Ser134fs					LRRC41_ENST00000472710.1_5'UTR	p.S134fs	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN			4	685	-	Acute lymphoblastic leukemia(166;0.155)		134					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Frame_Shift_Del	DEL	ENST00000343304.6	37	c.400delT	CCDS533.1																																																																																				0.483	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369		7	351						7	351	---	---	---	---	-	46752129	A	-	46752129	7	5	119	1	0	1	0	1	0	0	0	0	9037	246	9	0	2066	0	LRRC41	1	46752129	Frame_Shift_Del	DEL	A	TCGA-XD-AAUI-01A-42D-A40W-08	567232	46752129	202498492	3	37641											
TRIM17	51127	broad.mit.edu	37	chr1	228596786	228596786	+	Intron	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttgtagaacccccccCattggtggcttccgaggcta	10	14	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr1:228596786C>T	ENST00000366697.2	-	5	1840				TRIM17_ENST00000456946.2_Missense_Mutation_p.G324R|TRIM11_ENST00000366699.3_5'Flank|TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Intron|TRIM17_ENST00000366698.2_Intron|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						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)				GAACCCCCCCCATTGGTGGCT	0.577																																						ENST00000456946.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(970-972)Ggg>Agg		tripartite motif containing 17							47	60	56					1																	228596786		692	1591	2283	SO:0001627	intron_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596786C>T	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.883+86G>A	1.37:g.228596786C>T						TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA	p.G324R	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN			6	1345	-		Prostate(94;0.0724)	0			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.970G>A	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675009	0.14841	.	.	ENSG00000162931	ENST00000456946	T	0.40225	1.04	3.5	-7.0	0.01599	.	.	.	.	.	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15009	-1.0452	9	0.25751	T	0.34	.	1.4469	0.02366	0.4739:0.1371:0.1217:0.2673	.	324	Q9Y577-2	.	R	324	ENSP00000403312:G324R	ENSP00000403312:G324R	G	-	1	0	TRIM17	226663409	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.661000	0.01972	-1.764000	0.01305	-0.182000	0.12963	GGG		0.577	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		7	161	0	0	0	1	0	7	161					T	228596786	C	T	228596786	1	4	119	0	1	0	0	0	0	0	0	0	16546	594	21	2		2	TRIM17	1	228596786	Intron	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	181844657	228596786	20653835	4	37642											
MYCN	4613	broad.mit.edu	37	chr2	16086019	16086019	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	agcgccgcaacgaccttcggTccagctttctcacgctcagg	10	16	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:16086019T>A	ENST00000281043.3	+	3	1492	c.1195T>A	c.(1195-1197)Tcc>Acc	p.S399T		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	399	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CGACCTTCGGTCCAGCTTTCT	0.562			A		neuroblastoma																																	ENST00000281043.3				Dom	yes		2	2p24.1	4613	A	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"			O			neuroblastoma		0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1195-1197)Tcc>Acc		v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog							83	89	87					2																	16086019		2203	4300	6503	SO:0001583	missense	4613				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:16086019T>A	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.1195T>A	2.37:g.16086019T>A	ENSP00000281043:p.Ser399Thr						p.S399T	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	GBM - Glioblastoma multiforme(3;0.000332)		3	1492	+	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)		399			Helix-loop-helix motif.		Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	37	c.1195T>A	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831915	0.50845	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	D	0.98120	-4.73	5.14	3.98	0.46160	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	N	0.05078	-0.115	0.53688	D	0.999976	D	0.64830	0.994	D	0.64506	0.926	D	0.92718	0.6189	10	0.22109	T	0.4	-18.6908	10.7944	0.46451	0.0:0.0748:0.0:0.9252	.	399	P04198	MYCN_HUMAN	T	399;317	ENSP00000281043:S399T	ENSP00000281043:S399T	S	+	1	0	MYCN	16003470	1.000000	0.71417	0.850000	0.33497	0.991000	0.79684	5.091000	0.64505	0.931000	0.37242	0.496000	0.49642	TCC		0.562	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378		50	441	0	0	0	1	0	50	441					A	16086019	T	A	16086019	3	1	119	1	0	0	0	0	1	0	0	0	10062	1667	58	5	1201	5	MYCN	2	16086019	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08		16086019	227113354	5	37643											
SIX2	10736	broad.mit.edu	37	chr2	45233480	45233480	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gacggcagcccagggggcggCgggctgaggagcagtgcggg	23	10	0	1	rs146943650	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:45233480C>T	ENST00000303077.6	-	2	1024	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	235					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|kidney development (GO:0001822)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesenchymal stem cell proliferation (GO:0097168)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|middle ear morphogenesis (GO:0042474)|nephron development (GO:0072006)|nephron morphogenesis (GO:0072028)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus (GO:0006606)|regulation of branching involved in ureteric bud morphogenesis (GO:0090189)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P235P(1)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGGGGGCGGCGGGCTGAGGA	0.706													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.0					ENST00000303077.6																			1	Substitution - coding silent(1)	p.P235P(1)	pancreas(1)	endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22						c.(703-705)ccG>ccA		SIX homeobox 2		C		11,4395	17.9+/-39.9	0,11,2192	57	63	61		705	3	1	2	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SIX2	NM_016932.4		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		235/292	45233480	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10736					nucleus	sequence-specific DNA binding transcription factor activity	g.chr2:45233480C>T	AF136939	CCDS1822.1	2p21	2011-06-20	2007-07-13		ENSG00000170577	ENSG00000170577		"Homeoboxes / SINE class"	10888	protein-coding gene	gene with protein product		604994	"sine oculis homeobox (Drosophila) homolog 2", "sine oculis homeobox homolog 2 (Drosophila)"				Standard	NM_016932		Approved		uc002ruo.3	Q9NPC8	OTTHUMG00000152421	ENST00000303077.6:c.705G>A	2.37:g.45233480C>T							p.P235P	NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN			2	1024	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	235					Q9BXH7	Silent	SNP	ENST00000303077.6	37	c.705G>A	CCDS1822.1																																																																																				0.706	SIX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326188.2			16	287	0	0	0	1	0	16	287					T	45233480	C	T	45233480	2	4	119	1	0	0	0	0	0	0	0	1	14397	755	27	1		1	SIX2	2	45233480	Silent	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	29147461	45233480	197965893	6	37644											
FBXO11	80204	broad.mit.edu	37	chr2	48066031	48066031	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattagcaagttcactgaagCgtttacatacacaagctgct	7	10	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:48066031C>T	ENST00000403359.3	-	4	626	c.554G>A	c.(553-555)cGc>cAc	p.R185H	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.R101H|FBXO11_ENST00000402508.1_Missense_Mutation_p.R101H|FBXO11_ENST00000378314.3_Missense_Mutation_p.R67H	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	185	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				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)			TTCACTGAAGCGTTTACATAC	0.363			"Mis, F, D"		DLBCL																																	ENST00000403359.3				Rec	yes		2	2p16.3	80204	"Mis, F, D"	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(553-555)cGc>cAc		F-box protein 11							115	106	109					2																	48066031		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066031C>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.554G>A	2.37:g.48066031C>T	ENSP00000384823:p.Arg185His					FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.R101H|FBXO11_ENST00000378314.3_Missense_Mutation_p.R67H|FBXO11_ENST00000316377.4_Missense_Mutation_p.R101H	p.R185H	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	626	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	185			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.554G>A	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310469	0.95629	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.5	5.5	0.81552	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.71906	-0.4451	10	0.87932	D	0	-4.1684	19.3886	0.94570	0.0:1.0:0.0:0.0	.	185	Q86XK2	FBX11_HUMAN	H	101;185;101;101;67	ENSP00000385398:R101H;ENSP00000384823:R185H;ENSP00000323822:R101H;ENSP00000392272:R101H;ENSP00000367565:R67H	ENSP00000323822:R101H	R	-	2	0	FBXO11	47919535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.573000	0.86826	0.563000	0.77884	CGC		0.363	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		33	226	0	0	0	1	0	33	226					T	48066031	C	T	48066031	3	4	119	1	0	0	0	0	1	0	0	0	5752	768	27	1	2399	1	FBXO11	2	48066031	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	2832551	48066031	195133342	7	37645											
RGPD5	727851	broad.mit.edu	37	chr2	113181886	113181887	+	Splice_Site	INS	-	-	A													gaatcctttcattgacttctINSaaaaaaaaattaaaagttgt					rs375647001	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000330575.5_Splice_Site|RGPD8_ENST00000409750.1_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	8	463						8	463	---	---	---	---	A	113181887	-	A	113181886	8	5	119	1	0	1	1	0	0	0	1	0	13339	1536	53	0	16328	0	RGPD5	2	113181886	Splice_Site	INS	-	TCGA-XD-AAUI-01A-42D-A40W-08	65115855	113181886	130017487	8	37646											
LRP1B	53353	broad.mit.edu	37	chr2	141533746	141533746	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aggatggtggggtttcttccGtctcttttgctgcaggttcc	13	9	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:141533746G>A	ENST00000389484.3	-	33	6392	c.5421C>T	c.(5419-5421)gaC>gaT	p.D1807D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1807					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)		GGTTTCTTCCGTCTCTTTTGC	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5419-5421)gaC>gaT		low density lipoprotein receptor-related protein 1B							128	124	125					2																	141533746		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533746G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5421C>T	2.37:g.141533746G>A		TSP Lung(27;0.18)					p.D1807D	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	33	6392	-		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)	1807					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.5421C>T	CCDS2182.1																																																																																				0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		30	203	0	0	0	1	0	30	203					A	141533746	G	A	141533746	2	1	119	1	0	0	0	0	0	0	0	1	8993	1136	40	1		1	LRP1B	2	141533746	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	28351860	141533746	101665627	9	37647											
SCN9A	6335	broad.mit.edu	37	chr2	167056341	167056341	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagggtaggggacacaAaatacgtttcaatcaaatca	10	7	3	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:167056341A>G	ENST00000409435.1	-	26	4807	c.4808T>C	c.(4807-4809)tTt>tCt	p.F1603S	SCN9A_ENST00000409672.1_Missense_Mutation_p.F1592S|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1604S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1604S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1603					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)	AGGGGACACAAAATACGTTTC	0.423																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4810-4812)tTt>tCt		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						112	120	117					2																	167056341		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056341A>G	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.4808T>C	2.37:g.167056341A>G	ENSP00000386330:p.Phe1603Ser					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F1592S|SCN9A_ENST00000409435.1_Missense_Mutation_p.F1603S|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1604S	p.F1604S			Q15858	SCN9A_HUMAN			27	5151	-			1603					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4811T>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817625	0.70912	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000009	D	0.98425	0.9476	M	0.65498	2.005	0.80722	D	1	D	0.55172	0.97	P	0.58820	0.846	D	0.99548	1.0965	10	0.87932	D	0	.	16.0249	0.80536	1.0:0.0:0.0:0.0	.	1592	E7EUN6	.	S	1592;1604;1604;1603	ENSP00000386306:F1592S;ENSP00000364536:F1604S;ENSP00000304748:F1604S;ENSP00000386330:F1603S	ENSP00000304748:F1604S	F	-	2	0	SCN9A	166764587	1.000000	0.71417	0.998000	0.56505	0.855000	0.48748	9.157000	0.94714	2.181000	0.69327	0.528000	0.53228	TTT		0.423	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		42	371	0	0	0	1	0	42	371					G	167056341	A	G	167056341	3	3	119	1	0	0	0	0	1	0	0	0	13975	14	1	4	1162	4	SCN9A	2	167056341	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	25522595	167056341	76143032	10	37648											
XIRP2	129446	broad.mit.edu	37	chr2	168103840	168103840	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagtcttcttcagccaAagccaggtccatttgagcca	7	11	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:168103840A>C	ENST00000409195.1	+	9	6027	c.5938A>C	c.(5938-5940)Aag>Cag	p.K1980Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.K1980Q|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1758Q|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1805					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						TCTTCAGCCAAAGCCAGGTCC	0.468																																						ENST00000409195.1																			0				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						c.(5938-5940)Aag>Cag		xin actin-binding repeat containing 2							42	42	42					2																	168103840		1912	4124	6036	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103840A>C	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.5938A>C	2.37:g.168103840A>C	ENSP00000386840:p.Lys1980Gln					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1758Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K1980Q|XIRP2_ENST00000420519.1_Intron	p.K1980Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6027	+			1805					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5938A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.247707	0.01469	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02552	4.25;4.25;4.25	5.73	2.16	0.27623	.	0.674670	0.15536	N	0.257239	T	0.01558	0.0050	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26258	0.09;0.145;0.091	B;B;B	0.24541	0.024;0.054;0.034	T	0.48399	-0.9039	10	0.12766	T	0.61	-1.5086	3.3189	0.07043	0.5633:0.0:0.2707:0.1659	.	1805;1805;1758	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	1980;1980;1758	ENSP00000386840:K1980Q;ENSP00000295237:K1980Q;ENSP00000387255:K1758Q	ENSP00000295237:K1980Q	K	+	1	0	XIRP2	167812086	0.000000	0.05858	0.947000	0.38551	0.012000	0.07955	-0.097000	0.11042	0.465000	0.27167	-0.263000	0.10527	AAG		0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		15	220	0	0	0	1	0	15	220					C	168103840	A	C	168103840	3	2	119	1	0	0	0	0	1	0	0	0	17484	15	1	4	5968	4	XIRP2	2	168103840	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	1047499	168103840	75095533	11	37649											
ALS2CR12	130540	broad.mit.edu	37	chr2	202172323	202172323	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tcttctcctgactccatttcGaattttttggtcatcttttt	4	10	4	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr2:202172323G>A	ENST00000286190.5	-	10	844	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000448967.1_5'Flank|ALS2CR12_ENST00000439709.1_Silent_p.F266F|ALS2CR12_ENST00000405148.2_Silent_p.F266F			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383																																						ENST00000405148.2																			1	Substitution - coding silent(1)	p.F266F(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(796-798)ttC>ttT		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12							156	159	158					2																	202172323		2203	4298	6501	SO:0001819	synonymous_variant	130540				regulation of GTPase activity		protein binding	g.chr2:202172323G>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.798C>T	2.37:g.202172323G>A						ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN			11	1241	-			266					G5E9S3|Q53TT6|Q8N1B6	Silent	SNP	ENST00000286190.5	37	c.798C>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	0.508	-0.867740	0.02590	.	.	ENSG00000155749	ENST00000415745	.	.	.	5.53	-0.054	0.13816	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35919	-0.9769	4	.	.	.	-8.4115	5.6157	0.17430	0.6368:0.1427:0.2205:0.0	.	.	.	.	L	41	.	.	S	-	2	0	ALS2CR12	201880568	0.992000	0.36948	0.993000	0.49108	0.026000	0.11368	0.295000	0.19065	-0.114000	0.11936	-0.300000	0.09419	TCG		0.383	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		26	462	0	0	0	1	0	26	462					A	202172323	G	A	202172323	2	1	119	1	0	0	0	0	0	0	0	1	553	1049	37	1		1	ALS2CR12	2	202172323	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	34068483	202172323	41027050	12	37650											
ANKRD28	23243	broad.mit.edu	37	chr3	15720986	15720986	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attctggctttacttacacgGcacaatgcaatggactaaaa	7	9	1	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:15720986G>A	ENST00000399451.2	-	22	2751	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V	ANKRD28_ENST00000383777.1_Missense_Mutation_p.A828V|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	795						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TACTTACACGGCACAATGCAA	0.378																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.(2383-2385)gCc>gTc		ankyrin repeat domain 28							110	99	102					3																	15720986		1893	4119	6012	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15720986G>A	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.2384C>T	3.37:g.15720986G>A	ENSP00000382379:p.Ala795Val					ANKRD28_ENST00000383777.1_Missense_Mutation_p.A828V|ANKRD28_ENST00000497037.1_5'UTR	p.A795V	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN			22	2751	-			795					B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.2384C>T	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755213	0.96898	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.79653	-1.29;-1.29;-1.29	6.06	6.06	0.98353	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91917	0.5544	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	795	O15084	ANR28_HUMAN	V	795;828;795	ENSP00000382379:A795V;ENSP00000373287:A828V;ENSP00000397341:A795V	ENSP00000373287:A828V	A	-	2	0	ANKRD28	15695990	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	GCC		0.378	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199		5	182	0	0	0	1	0	5	182					A	15720986	G	A	15720986	3	1	119	1	0	0	0	0	1	0	0	0	656	1203	42	2	805	2	ANKRD28	3	15720986	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		15720986	182301444	13	37651											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_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																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		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					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	269						7	269	---	---	---	---	-	49094316	TGC	-	49094314	7	5	119	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-XD-AAUI-01A-42D-A40W-08	33373328	49094314	148928116	14	37652											
TLR9	54106	broad.mit.edu	37	chr3	52257685	52257685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctggaaggcaggttgCggggcaccacagtgaggttg	18	9	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52257685C>T	ENST00000360658.2	-	2	1280	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TLR9_ENST00000494383.1_Silent_p.P369P|TLR9_ENST00000597542.1_Missense_Mutation_p.R240H	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	216					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.R216H(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	AGGCAGGTTGCGGGGCACCAC	0.632																																						ENST00000597542.1																			1	Substitution - Missense(1)	p.R216H(1)	large_intestine(1)	endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(718-720)cGc>cAc		toll-like receptor 9	Chloroquine(DB00608)						39	33	35					3																	52257685		2203	4300	6503	SO:0001583	missense	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52257685C>T	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"CD molecules"	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.647G>A	3.37:g.52257685C>T	ENSP00000353874:p.Arg216His					TLR9_ENST00000360658.2_Missense_Mutation_p.R216H|TLR9_ENST00000494383.1_Silent_p.P369P	p.R240H			Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1676	-			216					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	c.719G>A	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934649	0.52866	.	.	ENSG00000239732	ENST00000360658	T	0.57273	0.41	5.57	1.0	0.19881	.	0.000000	0.37012	N	0.002294	T	0.45955	0.1368	N	0.11870	0.19	0.09310	N	1	P;D	0.89917	0.476;1.0	B;D	0.76575	0.057;0.988	T	0.23655	-1.0182	10	0.52906	T	0.07	.	3.8792	0.09071	0.3023:0.4532:0.0:0.2445	.	313;216	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	216	ENSP00000353874:R216H	ENSP00000353874:R216H	R	-	2	0	TLR9	52232725	0.000000	0.05858	0.326000	0.25389	0.560000	0.35617	-0.644000	0.05415	0.263000	0.21812	0.655000	0.94253	CGC		0.632	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1			6	120	0	0	0	1	0	6	120					T	52257685	C	T	52257685	3	4	119	1	0	0	0	0	1	0	0	0	16010	768	27	1	2455	1	TLR9	3	52257685	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	3163371	52257685	145764745	15	37653											
ITIH3	3699	broad.mit.edu	37	chr3	52829637	52829637	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agaaacggagcctcccggaaGgggtaagaactttcaccagg	13	10	1	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:52829637G>A	ENST00000449956.2	+	2	118	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	ITIH3_ENST00000416872.2_Missense_Mutation_p.G38R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	38	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCCCGGAAGGGGTAAGAAC	0.567																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(112-114)Ggg>Agg		inter-alpha-trypsin inhibitor heavy chain 3							26	32	30					3																	52829637		2090	4213	6303	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52829637G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.112G>A	3.37:g.52829637G>A	ENSP00000415769:p.Gly38Arg					ITIH3_ENST00000416872.2_Missense_Mutation_p.G38R	p.G38R	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	2	118	+			38			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.112G>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	9.970	1.225261	0.22457	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.02631	4.22;4.88	4.17	2.37	0.29283	Vault protein inter-alpha-trypsin (1);Vault protein inter-alpha-trypsin, metazoa (1);	0.950075	0.08821	N	0.888844	T	0.01489	0.0048	N	0.03608	-0.345	0.34715	D	0.728176	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.40327	-0.9569	10	0.16420	T	0.52	-9.1591	6.4221	0.21750	0.2186:0.0:0.7814:0.0	.	38;38	E7ET33;Q06033	.;ITIH3_HUMAN	R	38;38;33;38;38	ENSP00000413922:G38R;ENSP00000415769:G38R	ENSP00000273291:G33R	G	+	1	0	ITIH3	52804677	0.984000	0.35163	0.991000	0.47740	0.958000	0.62258	0.768000	0.26590	0.716000	0.32124	0.591000	0.81541	GGG		0.567	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		12	56	0	0	0	1	0	12	56					A	52829637	G	A	52829637	3	1	119	1	0	0	0	0	1	0	0	0	7935	1000	35	2	118	2	ITIH3	3	52829637	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	571952	52829637	145192793	16	37654											
BOC	91653	broad.mit.edu	37	chr3	112998688	112998688	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggcacctcctacaagtttCgagtccgggctctgaacatg	10	13	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:112998688C>T	ENST00000495514.1	+	13	2742	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	BOC_ENST00000355385.3_Nonsense_Mutation_p.R680*|BOC_ENST00000273395.4_Nonsense_Mutation_p.R681*			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	680	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)			CTACAAGTTTCGAGTCCGGGC	0.622																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2038-2040)Cga>Tga		BOC cell adhesion associated, oncogene regulated							71	78	76					3																	112998688		2203	4300	6503	SO:0001587	stop_gained	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998688C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2038C>T	3.37:g.112998688C>T	ENSP00000418663:p.Arg680*					BOC_ENST00000355385.3_Nonsense_Mutation_p.R680*|BOC_ENST00000273395.4_Nonsense_Mutation_p.R681*	p.R680*			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		13	2742	+			680			Fibronectin type-III 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Nonsense_Mutation	SNP	ENST00000495514.1	37	c.2038C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	43	10.022862	0.99319	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	.	.	.	5.53	5.53	0.82687	.	0.065151	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4493	0.94860	0.0:1.0:0.0:0.0	.	.	.	.	X	680;681;680	.	ENSP00000273395:R681X	R	+	1	2	BOC	114481378	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	5.444000	0.66587	2.593000	0.87608	0.563000	0.77884	CGA		0.622	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		25	431	0	0	0	1	0	25	431					T	112998688	C	T	112998688	4	4	119	1	0	0	0	0	0	1	0	0	1483	876	31	1	2080	1	BOC	3	112998688	Nonsense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	60169051	112998688	85023742	17	37655											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-													attctctgaagccgcagtttCtgctgctgctgctgctgagt							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)cagdel	p.Q233del	WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma																																	ENST00000465804.1				Dom	yes		3	3q23-q24	607392	T	WW domain containing transcription regulator 1			M	CAMTA1		epitheliod hemangioendothelioma		0				breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23						c.(697-699)del		WW domain containing transcription regulator 1																																				SO:0001651	inframe_deletion	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260194_149260196delCTG	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.697_699delCAG	3.37:g.149260203_149260205delCTG	ENSP00000419465:p.Gln233del					WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del|WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del	p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	953_955	-			233			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	In_Frame_Del	DEL	ENST00000465804.1	37	c.697_699delCAG	CCDS3144.1																																																																																				0.581	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		8	218						8	218	---	---	---	---	-	149260196	CTG	-	149260194	7	5	119	1	0	1	0	1	0	0	0	0	17471	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-XD-AAUI-01A-42D-A40W-08	36261506	149260194	48762236	18	37656											
DHX36	170506	broad.mit.edu	37	chr3	154018839	154018839	+	Missense_Mutation	SNP	T	T	A													atattgcttctttttcttctTtttcttgtctatttacatgc							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018839T>A	ENST00000496811.1	-	10	1375	c.1295A>T	c.(1294-1296)aAa>aTa	p.K432I	DHX36_ENST00000308361.6_Missense_Mutation_p.K432I|DHX36_ENST00000544526.1_Missense_Mutation_p.K432I|DHX36_ENST00000329463.5_Missense_Mutation_p.K432I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	432					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)			TTTTTCTTCTTTTTCTTGTCT	0.353																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1294-1296)aAa>aTa		DEAH (Asp-Glu-Ala-His) box polypeptide 36							118	123	122					3																	154018839		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018839T>A	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.1295A>T	3.37:g.154018839T>A	ENSP00000417078:p.Lys432Ile					DHX36_ENST00000544526.1_Missense_Mutation_p.K432I|DHX36_ENST00000329463.5_Missense_Mutation_p.K432I|DHX36_ENST00000308361.6_Missense_Mutation_p.K432I	p.K432I	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		10	1375	-			432					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1295A>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813041	0.70912	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03801	3.98;3.9;3.81;3.8;3.99	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.12475	0.0303	L	0.60845	1.875	0.54753	D	0.999989	P;P;B	0.42456	0.78;0.78;0.27	P;P;B	0.48400	0.576;0.576;0.092	T	0.00240	-1.1887	10	0.72032	D	0.01	.	16.0307	0.80574	0.0:0.0:0.0:1.0	.	432;432;432	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	I	432;432;432;432;346	ENSP00000417078:K432I;ENSP00000309296:K432I;ENSP00000444247:K432I;ENSP00000330113:K432I;ENSP00000419862:K346I	ENSP00000309296:K432I	K	-	2	0	DHX36	155501533	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.502000	0.73695	2.190000	0.69967	0.455000	0.32223	AAA		0.353	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		59	402	0	0	0	1	0	59	402					A	154018839	T	A	154018839	3	1	119	1	0	0	0	0	1	0	0	0	4525	1841	64	5	1795	5	DHX36	3	154018839	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	4758645	154018839	44003591	19	37657	232	2									
DHX36	170506	broad.mit.edu	37	chr3	154018849	154018849	+	Missense_Mutation	SNP	T	T	C													tttttcttctttttcttgtcTatttacatgcccttgcatga					rs201175580		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr3:154018849T>C	ENST00000496811.1	-	10	1365	c.1285A>G	c.(1285-1287)Aga>Gga	p.R429G	DHX36_ENST00000308361.6_Missense_Mutation_p.R429G|DHX36_ENST00000544526.1_Missense_Mutation_p.R429G|DHX36_ENST00000329463.5_Missense_Mutation_p.R429G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	429					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)			TTTTCTTGTCTATTTACATGC	0.343																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1285-1287)Aga>Gga		DEAH (Asp-Glu-Ala-His) box polypeptide 36		T	GLY/ARG,GLY/ARG	0,4406		0,0,2203	110	115	113		1285,1285	3.3	0.9	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DHX36	NM_001114397.1,NM_020865.2	125,125	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	429/995,429/1009	154018849	1,13005	2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018849T>C	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.1285A>G	3.37:g.154018849T>C	ENSP00000417078:p.Arg429Gly					DHX36_ENST00000544526.1_Missense_Mutation_p.R429G|DHX36_ENST00000329463.5_Missense_Mutation_p.R429G|DHX36_ENST00000308361.6_Missense_Mutation_p.R429G	p.R429G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		10	1365	-			429					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.1285A>G	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.587020	0.28268	0.0	1.16E-4	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.03635	4.04;3.97;3.86;3.86;4.05	5.73	3.31	0.37934	.	0.050847	0.85682	D	0.000000	T	0.05502	0.0145	L	0.60455	1.87	0.42665	D	0.993495	B;P;B	0.47106	0.002;0.89;0.001	B;B;B	0.44224	0.011;0.444;0.004	T	0.48937	-0.8990	10	0.28530	T	0.3	.	8.1451	0.31106	0.1262:0.0:0.2626:0.6112	.	429;429;429	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	G	429;429;429;429;343	ENSP00000417078:R429G;ENSP00000309296:R429G;ENSP00000444247:R429G;ENSP00000330113:R429G;ENSP00000419862:R343G	ENSP00000309296:R429G	R	-	1	2	DHX36	155501543	1.000000	0.71417	0.935000	0.37517	0.661000	0.39034	2.751000	0.47508	0.425000	0.26087	-1.580000	0.00857	AGA		0.343	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		58	386	0	0	0	1	0	58	386					C	154018849	T	C	154018849	3	2	119	1	0	0	0	0	1	0	0	0	4525	1530	53	4	1805	4	DHX36	3	154018849	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	10	154018849	44003581	20	37658	232	2									
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				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						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	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.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			8	201						8	201	---	---	---	---	-	81123252	CAG	-	81123250	7	5	119	1	0	1	0	1	0	0	0	0	12509	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-XD-AAUI-01A-42D-A40W-08		81123250	110031026	21	37659											
CDH18	1016	broad.mit.edu	37	chr5	19838947	19838947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacccatccccttttgggaCgatgatggacttcggtttca	9	11	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:19838947C>T	ENST00000507958.1	-	5	1139	c.149G>A	c.(148-150)cGt>cAt	p.R50H	CDH18_ENST00000511273.1_Missense_Mutation_p.R50H|CDH18_ENST00000382275.1_Missense_Mutation_p.R50H|CDH18_ENST00000274170.4_Missense_Mutation_p.R50H|CDH18_ENST00000502796.1_Missense_Mutation_p.R50H|CDH18_ENST00000506372.1_Missense_Mutation_p.R50H			Q13634	CAD18_HUMAN	cadherin 18, type 2	50					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)					CCTTTTGGGACGATGATGGAC	0.418																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(148-150)cGt>cAt		cadherin 18, type 2							189	158	168					5																	19838947		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19838947C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.149G>A	5.37:g.19838947C>T	ENSP00000425093:p.Arg50His					CDH18_ENST00000506372.1_Missense_Mutation_p.R50H|CDH18_ENST00000511273.1_Missense_Mutation_p.R50H|CDH18_ENST00000502796.1_Missense_Mutation_p.R50H|CDH18_ENST00000382275.1_Missense_Mutation_p.R50H|CDH18_ENST00000274170.4_Missense_Mutation_p.R50H	p.R50H			Q13634	CAD18_HUMAN			5	1139	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		50					A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.149G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262701	0.95399	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.00585	6.39;6.39;6.39;6.39;6.39;6.39	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.04003	0.0112	M	0.87900	2.915	0.49582	D	0.999802	D;D	0.89917	1.0;1.0	D;D	0.91635	0.987;0.999	T	0.23013	-1.0200	9	.	.	.	.	18.9006	0.92440	0.0:1.0:0.0:0.0	.	50;50	B4DHG6;Q13634	.;CAD18_HUMAN	H	50	ENSP00000371710:R50H;ENSP00000425093:R50H;ENSP00000274170:R50H;ENSP00000424931:R50H;ENSP00000422138:R50H;ENSP00000425854:R50H	.	R	-	2	0	CDH18	19874704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.805000	0.96524	0.655000	0.94253	CGT		0.418	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		24	284	0	0	0	1	0	24	284					T	19838947	C	T	19838947	3	4	119	1	0	0	0	0	1	0	0	0	3112	536	19	1	2267	1	CDH18	5	19838947	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		19838947	161076313	22	37660											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg					rs576181814		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|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 migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		7	221						7	221	---	---	---	---	-	44388717	AGC	-	44388715	7	5	119	1	0	1	0	1	0	0	0	0	5864	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-XD-AAUI-01A-42D-A40W-08	24549768	44388715	136526545	23	37661											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-													gatggaattggtgacgagtgTgatgatgatgatgacaatga							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		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.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	785						8	785	---	---	---	---	-	79372776	TGA	-	79372774	7	5	119	1	0	1	0	1	0	0	0	0	15908	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-XD-AAUI-01A-42D-A40W-08	34984059	79372774	101542486	24	37662											
MATR3	9782	broad.mit.edu	37	chr5	138643724	138643724	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgattatgaccatggaagtcGttctcaagaatctggttatt	9	6	2	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr5:138643724G>A	ENST00000394805.3	+	2	955	c.620G>A	c.(619-621)cGt>cAt	p.R207H	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.R207H|MATR3_ENST00000510056.1_Missense_Mutation_p.R207H|MATR3_ENST00000509990.1_Missense_Mutation_p.R207H|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394800.2_Missense_Mutation_p.R207H|MATR3_ENST00000361059.2_Missense_Mutation_p.R207H	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	207					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)			CATGGAAGTCGTTCTCAAGAA	0.403																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(619-621)cGt>cAt		matrin 3							124	115	118					5																	138643724		2203	4300	6503	SO:0001583	missense	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138643724G>A	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.620G>A	5.37:g.138643724G>A	ENSP00000378284:p.Arg207His					MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.R207H|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.R207H|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000502929.1_Missense_Mutation_p.R207H|MATR3_ENST00000394805.3_Missense_Mutation_p.R207H|MATR3_ENST00000361059.2_Missense_Mutation_p.R207H	p.R207H			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	1169	+			207					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	ENST00000394805.3	37	c.620G>A	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711550	0.48517	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000504045;ENST00000510056	T;T;T;T;T;T;T	0.78126	-0.74;-0.74;-0.75;-0.75;-0.74;-1.15;-0.75	5.52	5.52	0.82312	.	0.275476	0.43260	D	0.000599	T	0.72716	0.3495	N	0.08118	0	0.44562	D	0.997525	B;D;B	0.63046	0.006;0.992;0.006	B;P;B	0.61800	0.001;0.894;0.001	T	0.72437	-0.4294	10	0.30078	T	0.28	-9.3424	13.0779	0.59097	0.0738:0.0:0.9262:0.0	.	207;207;207	D6REM6;A8MXP9;P43243	.;.;MATR3_HUMAN	H	207	ENSP00000423533:R207H;ENSP00000354346:R207H;ENSP00000422319:R207H;ENSP00000378279:R207H;ENSP00000378284:R207H;ENSP00000423290:R207H;ENSP00000426743:R207H	ENSP00000354346:R207H	R	+	2	0	MATR3	138671623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.854000	0.75440	2.754000	0.94517	0.650000	0.86243	CGT		0.403	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		5	249	0	0	0	1	0	5	249					A	138643724	G	A	138643724	3	1	119	1	0	0	0	0	1	0	0	0	9378	1145	40	1	622	1	MATR3	5	138643724	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	59270950	138643724	42271536	25	37663											
ATXN1	6310	broad.mit.edu	37	chr6	16327002	16327002	+	Frame_Shift_Del	DEL	G	G	-													gtgaggcactgcagcaaactGgggggatgacgtgactatgg							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:16327002delG	ENST00000244769.4	-	8	2476	c.1540delC	c.(1540-1542)cagfs	p.Q514fs	ATXN1_ENST00000436367.1_Frame_Shift_Del_p.Q514fs	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	514	Self-association.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCAGCAAACTGGGGGGATGAC	0.657																																						ENST00000244769.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(1540-1542)agfs		ataxin 1							96	110	105					6																	16327002		2202	4300	6502	SO:0001589	frameshift_variant	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327002delG	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1540delC	6.37:g.16327002delG	ENSP00000244769:p.Gln514fs					ATXN1_ENST00000436367.1_Frame_Shift_Del_p.Q514fs	p.Q514fs	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	2476	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	514			Self-association.		Q17S02|Q9UJG2|Q9Y4J1	Frame_Shift_Del	DEL	ENST00000244769.4	37	c.1540delC	CCDS34342.1																																																																																				0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		7	648						7	648	---	---	---	---	-	16327002	G	-	16327002	7	5	119	1	0	1	0	1	0	0	0	0	1210	1357	47	0	915	0	ATXN1	6	16327002	Frame_Shift_Del	DEL	G	TCGA-XD-AAUI-01A-42D-A40W-08		16327002	154788065	26	37664											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		10	635						10	635	---	---	---	---	-	33411203	CAC	-	33411201	7	5	119	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-XD-AAUI-01A-42D-A40W-08	17084199	33411201	137703866	27	37665											
DDX43	55510	broad.mit.edu	37	chr6	74104815	74104815	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccggaggccgtggccGctggtcacgaggaactgccg	17	15	1	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:74104815G>A	ENST00000370336.4	+	1	345	c.187G>A	c.(187-189)Gct>Act	p.A63T	snoU13_ENST00000459178.1_RNA|OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.A63T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	63					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGCCGTGGCCGCTGGTCACGA	0.617											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(187-189)Gct>Act		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							54	47	49					6																	74104815		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74104815G>A		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.187G>A	6.37:g.74104815G>A	ENSP00000359361:p.Ala63Thr		OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1150	DDX43_ENST00000539829.1_Missense_Mutation_p.A63T|OOEP_ENST00000370363.1_5'UTR	p.A63T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			1	345	+			63					B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.187G>A	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335280	0.24253	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.47528	2.45;0.84	3.78	-0.215	0.13157	.	1.510900	0.04111	N	0.314678	T	0.14013	0.0339	L	0.50333	1.59	0.09310	N	1	P	0.41420	0.749	B	0.28385	0.089	T	0.15150	-1.0447	10	0.48119	T	0.1	.	1.0278	0.01531	0.2122:0.1786:0.4258:0.1834	.	63	Q9NXZ2	DDX43_HUMAN	T	63	ENSP00000359361:A63T;ENSP00000441636:A63T	ENSP00000359361:A63T	A	+	1	0	DDX43	74161536	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.092000	0.15066	-0.064000	0.13043	-0.391000	0.06502	GCT		0.617	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		11	177	0	0	0	1	0	11	177					A	74104815	G	A	74104815	3	1	119	1	0	0	0	0	1	0	0	0	4374	1087	38	1	189	1	DDX43	6	74104815	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	40693614	74104815	97010252	28	37666											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	8	2	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368																																						ENST00000369002.4																			2	Substitution - Nonsense(2)	p.L532*(2)	lung(1)|kidney(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1594-1596)tTa>tAa		SEC63 homolog (S. cerevisiae)							114	119	117					6																	108214765		2202	4300	6502	SO:0001587	stop_gained	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108214765A>T	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1595T>A	6.37:g.108214765A>T	ENSP00000357998:p.Leu532*						p.L532*	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	16	1774	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	532			SEC63 1.		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Nonsense_Mutation	SNP	ENST00000369002.4	37	c.1595T>A	CCDS5061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342620|6.342620	0.97489|0.97489	.|.	.|.	ENSG00000025796|ENSG00000025796	ENST00000423697|ENST00000369002;ENST00000437345	.|.	.|.	.|.	5.38|5.38	3.01|3.01	0.34805|0.34805	.|.	.|0.323197	.|0.31989	.|N	.|0.006744	T|.	0.17450|.	0.0419|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.07673|.	-1.0760|.	4|.	0.10636|0.14656	T|T	0.68|0.56	-2.4355|-2.4355	7.8269|7.8269	0.29320|0.29320	0.7741:0.0:0.2259:0.0|0.7741:0.0:0.2259:0.0	.|.	.|.	.|.	.|.	L|X	391|532;183	.|.	ENSP00000394572:F391L|ENSP00000357998:L532X	F|L	-|-	3|2	2|0	SEC63|SEC63	108321458|108321458	0.977000|0.977000	0.34250|0.34250	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.787000|2.787000	0.47798|0.47798	0.991000|0.991000	0.38814|0.38814	0.460000|0.460000	0.39030|0.39030	TTT|TTA		0.368	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		10	400	0	0	0	1	0	10	400					T	108214765	A	T	108214765	4	4	119	1	0	0	0	0	0	1	0	0	14055	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	34109950	108214765	62900302	29	37667											
ZNF273	10793	broad.mit.edu	37	chr7	64388822	64388822	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agaattcatactggagagaaAccctacaaatgtgaagaatg	9	6	1	4			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:64388822A>G	ENST00000476120.1	+	4	1187	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	ZNF273_ENST00000319636.5_Silent_p.K307K|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K372K(2)		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)				CTGGAGAGAAACCCTACAAAT	0.383																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			2	Substitution - coding silent(2)	p.K372K(2)	prostate(1)|kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1114-1116)aaA>aaG		zinc finger protein 273							50	54	52					7																	64388822		2203	4294	6497	SO:0001819	synonymous_variant	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388822A>G	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.1116A>G	7.37:g.64388822A>G						ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Silent_p.K307K	p.K372K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	1187	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	372					B3KQZ5|Q6P3V4	Silent	SNP	ENST00000476120.1	37	c.1116A>G	CCDS5528.2																																																																																				0.383	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			5	412	0	0	0	1	0	5	412					G	64388822	A	G	64388822	2	3	119	1	0	0	0	0	0	0	0	1	17861	40	2	4		4	ZNF273	7	64388822	Silent	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08		64388822	94749841	30	37668											
TRRAP	8295	broad.mit.edu	37	chr7	98533290	98533290	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	actcgtacctttacgaattgCggcattaagtaagttaatga	8	7	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr7:98533290C>T	ENST00000359863.4	+	28	4312	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1368					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTACGAATTGCGGCATTAAGT	0.393																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4102-4104)gCg>gTg		transformation/transcription domain-associated protein							64	60	61					7																	98533290		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98533290C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4103C>T	7.37:g.98533290C>T	ENSP00000352925:p.Ala1368Val					TRRAP_ENST00000355540.3_Missense_Mutation_p.A1368V|TRRAP_ENST00000446306.3_Missense_Mutation_p.A1367V	p.A1368V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		28	4312	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1368					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.4103C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.501952|4.501952	0.85176|0.85176	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.66280|.	-0.2;-0.2|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Armadillo-type fold (1);|.	0.051888|.	0.85682|.	D|.	0.000000|.	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.02751|0.02751	-0.505|-0.505	0.80722|0.80722	D|D	1|1	D;D;D|.	0.62365|.	0.991;0.975;0.987|.	P;B;P|.	0.48654|.	0.585;0.335;0.461|.	T|T	0.40831|0.40831	-0.9542|-0.9542	10|5	0.32370|.	T|.	0.25|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1368;1082;1368|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|W	1368;1368;1366|1083	ENSP00000352925:A1368V;ENSP00000347733:A1368V|.	ENSP00000347733:A1368V|.	A|R	+|+	2|1	0|2	TRRAP|TRRAP	98371226|98371226	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.393000|0.393000	0.30537|0.30537	7.622000|7.622000	0.83099|0.83099	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.393	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		5	229	0	0	0	1	0	5	229					T	98533290	C	T	98533290	3	4	119	1	0	0	0	0	1	0	0	0	16654	768	27	1	4209	1	TRRAP	7	98533290	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	34144468	98533290	60605373	31	37669											
COL14A1	7373	broad.mit.edu	37	chr8	121243763	121243763	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactacttctagcctgcGggtaaaatgggacatttctg	10	8	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:121243763G>A	ENST00000297848.3	+	19	2525	c.2255G>A	c.(2254-2256)cGg>cAg	p.R752Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.R657Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R752Q	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)			TCTAGCCTGCGGGTAAAATGG	0.438																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(2254-2256)cGg>cAg		collagen, type XIV, alpha 1							119	109	113					8																	121243763		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121243763G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2255G>A	8.37:g.121243763G>A	ENSP00000297848:p.Arg752Gln					COL14A1_ENST00000247781.3_Missense_Mutation_p.R657Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.R752Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	p.R752Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		19	2525	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		752			Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2255G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636123	0.29068	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.55	4.68	0.58851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.400288	0.24985	N	0.034030	T	0.43322	0.1242	L	0.33093	0.98	0.80722	D	1	B;P	0.40794	0.189;0.729	B;B	0.42798	0.03;0.398	T	0.25467	-1.0131	10	0.31617	T	0.26	.	9.6977	0.40167	0.1605:0.0:0.8395:0.0	.	752;752	Q05707-2;Q05707	.;COEA1_HUMAN	Q	752;752;657;565	ENSP00000311809:R752Q;ENSP00000297848:R752Q;ENSP00000247781:R657Q;ENSP00000409461:R565Q	ENSP00000247781:R657Q	R	+	2	0	COL14A1	121312944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.599000	0.46231	1.365000	0.46057	0.561000	0.74099	CGG		0.438	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		11	240	0	0	0	1	0	11	240					A	121243763	G	A	121243763	3	1	119	1	0	0	0	0	1	0	0	0	3680	1116	39	1	2325	1	COL14A1	8	121243763	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		121243763	25120259	32	37670											
MYC	4609	broad.mit.edu	37	chr8	128753053	128753053	+	Frame_Shift_Del	DEL	C	C	-													gttggaaaacaatgaaaaggCccccaaggtagttatcctta							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr8:128753053delC	ENST00000377970.2	+	3	1724	c.1214delC	c.(1213-1215)gccfs	p.A405fs	MYC_ENST00000524013.1_Frame_Shift_Del_p.A404fs	NM_002467.4	NP_002458	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	390	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.K392fs*2(1)|p.K407fs*2(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AATGAAAAGGCCCCCAAGGTA	0.498		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																	ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"A, T"	v-myc myelocytomatosis viral oncogene homolog (avian)			"L, E"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"		"Burkitt lymphoma,  amplified in other cancers, B-CLL"		2	Deletion - Frameshift(2)	p.K392fs*2(1)|p.K407fs*2(1)	lung(2)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(1213-1215)gcfs		v-myc avian myelocytomatosis viral oncogene homolog							101	115	110					8																	128753053		2203	4300	6503	SO:0001589	frameshift_variant	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128753053delC		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000377970.2:c.1214delC	8.37:g.128753053delC	ENSP00000367207:p.Ala405fs					MYC_ENST00000524013.1_Frame_Shift_Del_p.A404fs	p.A405fs	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	1724	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	390			Helix-loop-helix motif.		A8WFE7|P01107|Q14026	Frame_Shift_Del	DEL	ENST00000377970.2	37	c.1214delC	CCDS6359.2																																																																																				0.498	MYC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250277.3			7	1792						7	1792	---	---	---	---	-	128753053	C	-	128753053	7	5	119	1	0	1	0	1	0	0	0	0	10057	739	26	0	1224	0	MYC	8	128753053	Frame_Shift_Del	DEL	C	TCGA-XD-AAUI-01A-42D-A40W-08	7509290	128753053	17610969	33	37671											
KIAA1045	23349	broad.mit.edu	37	chr9	34971545	34971545	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	cagcctgggagcggctccgaGatgggcgcggcgtggagcct	19	12	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr9:34971545G>A	ENST00000242315.3	+	2	332	c.250G>A	c.(250-252)Gat>Aat	p.D84N	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.D84N	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	84							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCGGCTCCGAGATGGGCGCGG	0.632																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(250-252)Gat>Aat		KIAA1045							70	86	81					9																	34971545		2016	4158	6174	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971545G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.250G>A	9.37:g.34971545G>A	ENSP00000242315:p.Asp84Asn					KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.D84N	p.D84N	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	332	+			84					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.250G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	36	5.915546	0.97099	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.78240	0.4252	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75127	-0.3427	8	.	.	.	-3.6405	19.545	0.95291	0.0:0.0:1.0:0.0	.	84	Q9UPV7	K1045_HUMAN	N	84	.	.	D	+	1	0	KIAA1045	34961545	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.258000	0.95555	2.861000	0.98227	0.655000	0.94253	GAT		0.632	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		26	435	0	0	0	1	0	26	435					A	34971545	G	A	34971545	3	1	119	1	0	0	0	0	1	0	0	0	8237	942	33	2	252	2	KIAA1045	9	34971545	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		34971545	106241886	34	37672											
FRMD4A	55691	broad.mit.edu	37	chr10	13736001	13736001	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccgtctcggtcaggtcgatGgcgatctcactcaggctgcg	13	14	4	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:13736001G>A	ENST00000357447.2	-	15	1382	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	FRMD4A_ENST00000378503.1_Silent_p.A338A|FRMD4A_ENST00000342409.2_Silent_p.A354A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000358621.4_Silent_p.A323A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	338					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						TCAGGTCGATGGCGATCTCAC	0.572																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1012-1014)gcC>gcT		FERM domain containing 4A							172	130	145					10																	13736001		2203	4300	6503	SO:0001819	synonymous_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13736001G>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1014C>T	10.37:g.13736001G>A						FRMD4A_ENST00000342409.2_Silent_p.A354A|FRMD4A_ENST00000358621.4_Silent_p.A323A|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000378503.1_Silent_p.A338A	p.A338A	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			15	1382	-			338					A7E2Y3|Q5T377	Silent	SNP	ENST00000357447.2	37	c.1014C>T	CCDS7101.1																																																																																				0.572	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		39	219	0	0	0	1	0	39	219					A	13736001	G	A	13736001	2	1	119	1	0	0	0	0	0	0	0	1	6078	1335	47	2		2	FRMD4A	10	13736001	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		13736001	121798746	35	37673											
PARD3	56288	broad.mit.edu	37	chr10	34663857	34663857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agaccagaaggctcacagttCcttccatcttggtgcttctc	8	13	3	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:34663857C>T	ENST00000374789.3	-	11	1938	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	PARD3_ENST00000374776.1_Missense_Mutation_p.G538E|PARD3_ENST00000374788.3_Missense_Mutation_p.G538E|PARD3_ENST00000374773.1_Missense_Mutation_p.G538E|PARD3_ENST00000350537.4_Missense_Mutation_p.G538E|PARD3_ENST00000374790.3_Missense_Mutation_p.G494E|PARD3_ENST00000340077.5_Missense_Mutation_p.G538E|PARD3_ENST00000544292.1_Missense_Mutation_p.G268E|PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000545693.1_Missense_Mutation_p.G538E|PARD3_ENST00000374794.3_Missense_Mutation_p.G494E|PARD3_ENST00000545260.1_Missense_Mutation_p.G494E|PARD3_ENST00000346874.4_Missense_Mutation_p.G538E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	538	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				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)				GCTCACAGTTCCTTCCATCTT	0.438																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1612-1614)gGa>gAa		par-3 family cell polarity regulator							156	153	154					10																	34663857		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34663857C>T	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.1613G>A	10.37:g.34663857C>T	ENSP00000363921:p.Gly538Glu					PARD3_ENST00000374776.1_Missense_Mutation_p.G538E|PARD3_ENST00000545693.1_Missense_Mutation_p.G538E|PARD3_ENST00000545260.1_Missense_Mutation_p.G494E|PARD3_ENST00000374773.1_Missense_Mutation_p.G538E|PARD3_ENST00000374790.3_Missense_Mutation_p.G494E|PARD3_ENST00000374794.3_Missense_Mutation_p.G494E|PARD3_ENST00000374788.3_Missense_Mutation_p.G538E|PARD3_ENST00000350537.4_Missense_Mutation_p.G538E|PARD3_ENST00000340077.5_Missense_Mutation_p.G538E|PARD3_ENST00000544292.1_Missense_Mutation_p.G268E|PARD3_ENST00000346874.4_Missense_Mutation_p.G538E	p.G538E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			11	1938	-		Breast(68;0.0707)	538			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1613G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	c	13.72	2.321178	0.41096	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.82	5.82	0.92795	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.31157	0.91	0.80722	D	1	D;D;D;D;D;D;D;B;B;D;D;B;B;B;B	0.89917	1.0;0.993;0.998;0.997;0.994;0.998;0.997;0.195;0.324;0.997;0.994;0.217;0.008;0.026;0.001	D;P;D;P;D;D;P;B;B;D;D;B;B;B;B	0.80764	0.994;0.709;0.969;0.903;0.934;0.923;0.903;0.096;0.119;0.942;0.963;0.082;0.024;0.018;0.001	T	0.01276	-1.1398	10	0.05351	T	0.99	.	20.088	0.97803	0.0:1.0:0.0:0.0	.	494;494;538;538;538;538;538;538;494;538;538;538;538;538;268	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	E	538;494;538;538;538;494;538;494;538;538;538;268	ENSP00000443147:G538E;ENSP00000440857:G494E;ENSP00000363921:G538E;ENSP00000363920:G538E;ENSP00000340591:G538E;ENSP00000363926:G494E;ENSP00000311986:G538E;ENSP00000363922:G494E;ENSP00000363908:G538E;ENSP00000341844:G538E;ENSP00000363905:G538E;ENSP00000444429:G268E	ENSP00000341844:G538E	G	-	2	0	PARD3	34703863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.451000	0.80668	2.739000	0.93911	0.655000	0.94253	GGA		0.438	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		7	530	0	0	0	1	0	7	530					T	34663857	C	T	34663857	3	4	119	1	0	0	0	0	1	0	0	0	11485	855	30	2	2552	2	PARD3	10	34663857	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	20927856	34663857	100870890	36	37674											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43659338	43659338	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctaattttcacaattacacCttggtctcattgaatgaaga	5	8	3	3	rs78146682	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:43659338C>T	ENST00000374466.3	+	5	1340	c.1005C>T	c.(1003-1005)acC>acT	p.T335T		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	335					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.T335T(3)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAATTACACCTTGGTCTCAT	0.403																																						ENST00000374466.3																			3	Substitution - coding silent(3)	p.T335T(3)	endometrium(3)	endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1003-1005)acC>acT		chondroitin sulfate N-acetylgalactosaminyltransferase 2							175	159	164					10																	43659338		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43659338C>T	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.1005C>T	10.37:g.43659338C>T							p.T335T	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN			5	1340	+			335					B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.1005C>T	CCDS7201.1																																																																																				0.403	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		4	188	0	0	0	1	0	4	188					T	43659338	C	T	43659338	2	4	119	1	0	0	0	0	0	0	0	1	3950	668	24	2		2	CSGALNACT2	10	43659338	Silent	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	8995481	43659338	91875409	37	37675											
HNRNPF	3185	broad.mit.edu	37	chr10	43882173	43882174	+	Frame_Shift_Ins	INS	-	-	C													ctccaggccactgtaagtggINScctgggcagcagacaccccc							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:43882173_43882174insC	ENST00000544000.1	-	4	1566_1567	c.1159_1160insG	c.(1159-1161)gccfs	p.A387fs	HNRNPF_ENST00000356053.3_Frame_Shift_Ins_p.A387fs|HNRNPF_ENST00000357065.4_Frame_Shift_Ins_p.A387fs|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000337970.3_Frame_Shift_Ins_p.A387fs|HNRNPF_ENST00000443950.2_Frame_Shift_Ins_p.A387fs	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	387					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						ACTGTAAGTGGCCTGGGCAGCA	0.545																																						ENST00000443950.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						c.(1159-1161)cacfs		heterogeneous nuclear ribonucleoprotein F																																				SO:0001589	frameshift_variant	3185				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:43882173_43882174insC		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.1160dupG	10.37:g.43882175_43882175dupC	ENSP00000438061:p.Ala387fs					HNRNPF_ENST00000356053.3_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000337970.3_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000544000.1_Frame_Shift_Ins_p.H387fs|HNRNPF_ENST00000357065.4_Frame_Shift_Ins_p.H387fs	p.H387fs	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN			3	1645_1646	-			387					B3KM84|Q5T0N2|Q96AU2	Frame_Shift_Ins	INS	ENST00000544000.1	37	c.1159_1160insG	CCDS7204.1																																																																																				0.545	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2			7	498						7	498	---	---	---	---	C	43882174	-	C	43882173	7	5	119	1	0	1	1	0	0	0	0	0	7295	1203	42	0	91	0	HNRNPF	10	43882173	Frame_Shift_Ins	INS	-	TCGA-XD-AAUI-01A-42D-A40W-08	222835	43882173	91652574	38	37676											
CHAT	1103	broad.mit.edu	37	chr10	50857681	50857681	+	Splice_Site	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cctcggcagaaaaacttcaaCggtaaggataaccgaagtct	9	10	2	1	rs371470622		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr10:50857681C>T	ENST00000337653.2	+	10	1663	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	CHAT_ENST00000455728.2_Splice_Site_p.R386*|CHAT_ENST00000395562.2_Splice_Site_p.R422*|CHAT_ENST00000395559.2_Splice_Site_p.R386*|CHAT_ENST00000339797.1_Splice_Site_p.R386*|CHAT_ENST00000351556.3_Splice_Site_p.R386*	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	504					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)	AAAACTTCAACGGTAAGGATA	0.602																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.e11+1		choline O-acetyltransferase	Choline(DB00122)	C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	40	45	44		1156,1264,1156,1510,1156,1156,1156	0.1	1	10		44	1,8597		0,1,4298	no	stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice,stop-gained-near-splice	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	386/631,422/667,386/631,504/749,386/631,386/631,386/631	50857681	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50857681C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1511+1C>T	10.37:g.50857681C>T						CHAT_ENST00000351556.3_Splice_Site_p.R386_splice|CHAT_ENST00000455728.2_Splice_Site_p.R386_splice|CHAT_ENST00000337653.2_Splice_Site_p.R504_splice|CHAT_ENST00000339797.1_Splice_Site_p.R386_splice|CHAT_ENST00000395559.2_Splice_Site_p.R386_splice	p.R422_splice	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	11	1733	+		all_neural(218;0.107)	504					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Splice_Site	SNP	ENST00000337653.2	37	c.1265_splice	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	36	5.855479	0.97030	0.0	1.16E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	.	.	.	4.77	0.0456	0.14231	.	0.156020	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-5.4337	7.7047	0.28642	0.5652:0.3444:0.0:0.0904	.	.	.	.	X	386;386;386;504;422;386	.	ENSP00000337103:R504X	R	+	1	2	CHAT	50527687	0.999000	0.42202	0.959000	0.39883	0.135000	0.20990	2.130000	0.42064	0.376000	0.24707	0.462000	0.41574	CGA		0.602	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	Nonsense_Mutation	37	262	0	0	0	1	0	37	262					T	50857681	C	T	50857681	5	4	119	1	0	0	0	0	0	0	1	0	3322	550	19	1	1592	1	CHAT	10	50857681	Splice_Site	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	6975508	50857681	84677066	39	37677											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605880	1605882	+	In_Frame_Del	DEL	GCC	GCC	-													ccggagccacagcccccacaGccggagccacaacccccctt					rs199544345		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:1605880_1605882delGCC	ENST00000382171.2	-	1	631_633	c.598_600delGGC	c.(598-600)ggcdel	p.G200del	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	200	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)		AGCCCCCACAGCCGGAGCCACAA	0.665																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(598-600)del		keratin associated protein 5-1																																				SO:0001651	inframe_deletion	387264					keratin filament		g.chr11:1605880_1605882delGCC	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.598_600delGGC	11.37:g.1605880_1605882delGCC	ENSP00000371606:p.Gly200del					KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.G200del	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	631_633	-		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)	200			8 X 4 AA repeats of C-C-X-P.			In_Frame_Del	DEL	ENST00000382171.2	37	c.598_600delGGC	CCDS31330.1																																																																																				0.665	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		8	279						8	279	---	---	---	---	-	1605882	GCC	-	1605880	7	5	119	1	0	1	0	1	0	0	0	0	8589	958	34	0	240	0	KRTAP5-1	11	1605880	In_Frame_Del	DEL	GCC	TCGA-XD-AAUI-01A-42D-A40W-08		1605880	133400636	40	37678											
NUP98	4928	broad.mit.edu	37	chr11	3704600	3704600	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtaaggaaagtctctttaGcccaagattcaggggtctcc	12	9	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:3704600G>A	ENST00000324932.7	-	30	5168	c.4748C>T	c.(4747-4749)gCt>gTt	p.A1583V	NUP98_ENST00000359171.4_Missense_Mutation_p.A1509V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1509V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1600					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)		AGTCTCTTTAGCCCAAGATTC	0.512			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4747-4749)gCt>gTt		nucleoporin 98kDa							108	103	105					11																	3704600		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3704600G>A	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.4748C>T	11.37:g.3704600G>A	ENSP00000316032:p.Ala1583Val					NUP98_ENST00000355260.3_Missense_Mutation_p.A1509V|NUP98_ENST00000359171.4_Missense_Mutation_p.A1509V	p.A1583V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	30	5168	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1600					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.4748C>T	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052507	0.75960	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	6.02	5.1	0.69264	.	0.131086	0.53938	D	0.000044	T	0.59404	0.2191	M	0.74647	2.275	0.23563	N	0.997403	D;D;P	0.53462	0.96;0.96;0.933	P;P;P	0.51615	0.675;0.6;0.461	T	0.56774	-0.7923	9	0.31617	T	0.26	-18.3788	15.8043	0.78481	0.0:0.0:0.8629:0.1371	.	1509;1583;1497	P52948-2;P52948-5;P52948-6	.;.;.	V	1583;1509;1509	.	ENSP00000316032:A1583V	A	-	2	0	NUP98	3661176	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.236000	0.51336	1.552000	0.49463	-0.187000	0.12897	GCT		0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		22	348	0	0	0	1	0	22	348					A	3704600	G	A	3704600	3	1	119	1	0	0	0	0	1	0	0	0	10815	971	34	2	670	2	NUP98	11	3704600	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	2098720	3704600	131301916	41	37679											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177151	67177152	+	Frame_Shift_Ins	INS	-	-	C													ccatgggctcctgactcgggINScccggggcccccccatcgag							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:67177151_67177152insC	ENST00000542590.1	+	9	1281_1282	c.1267_1268insC	c.(1267-1269)gccfs	p.A423fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.A423fs|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	423	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGACTCGGGCCCGGGGCCCC	0.693																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1267-1269)ccgfs		TBC1 domain family, member 10C				64,3390		2,60,1665						-2.3	0.8			10	110,7064		6,98,3483	no	frameshift	TBC1D10C	NM_198517.2		8,158,5148	A1A1,A1R,RR		1.5333,1.8529,1.6372				174,10454				SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177151_67177152insC	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1270dupC	11.37:g.67177154_67177154dupC	ENSP00000443654:p.Ala423fs					TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.P423fs	p.P423fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1296_1297	+			423			Interaction with calcineurin.		G3V1D6	Frame_Shift_Ins	INS	ENST00000542590.1	37	c.1267_1268insC	CCDS8162.1																																																																																				0.693	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		7	93						7	93	---	---	---	---	C	67177152	-	C	67177151	7	5	119	1	0	1	1	0	0	0	0	0	15652	1203	42	0	1301	0	TBC1D10C	11	67177151	Frame_Shift_Ins	INS	-	TCGA-XD-AAUI-01A-42D-A40W-08	63472551	67177151	67829365	42	37680											
C2CD2L	9854	broad.mit.edu	37	chr11	118982297	118982297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagaagtggaccaagcccgCgagggctggatccgaggtgg	18	10	0	1	rs140133210	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:118982297C>A	ENST00000528586.1	+	3	291	c.221C>A	c.(220-222)gCg>gAg	p.A74E	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A326E			O14523	C2C2L_HUMAN	C2CD2-like	326						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ACCAAGCCCGCGAGGGCTGGA	0.562																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(976-978)gCg>gAg		C2CD2-like							56	55	55					11																	118982297		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118982297C>A	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.221C>A	11.37:g.118982297C>A	ENSP00000433600:p.Ala74Glu					C2CD2L_ENST00000528586.1_Missense_Mutation_p.A74E	p.A326E	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			7	1336	+			326					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.977C>A		.	.	.	.	.	.	.	.	.	.	C	7.519	0.656367	0.14580	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.40225	1.04;1.04	5.54	-11.1	0.00147	C2 calcium/lipid-binding domain, CaLB (1);	1.839290	0.02350	N	0.075789	T	0.24547	0.0595	N	0.14661	0.345	0.09310	N	1	B;B	0.24618	0.107;0.107	B;B	0.27715	0.082;0.082	T	0.48328	-0.9045	10	0.05525	T	0.97	-3.7304	19.4928	0.95059	0.0:0.217:0.0:0.783	.	326;326	O14523;O14523-2	C2C2L_HUMAN;.	E	326;74	ENSP00000338885:A326E;ENSP00000433600:A74E	ENSP00000338885:A326E	A	+	2	0	C2CD2L	118487507	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.299000	0.02754	-2.688000	0.00405	-0.140000	0.14226	GCG		0.562	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		4	152	1	0	1	1	1	4	152					A	118982297	C	A	118982297	3	1	119	1	0	0	0	0	1	0	0	0	2160	768	27	3	1003	3	C2CD2L	11	118982297	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	51805146	118982297	16024219	43	37681											
ABCG4	64137	broad.mit.edu	37	chr11	119024778	119024778	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctctcaggtaaattctgccGccgggagctgattggcatca	11	12	3	1	rs145297995		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr11:119024778G>A	ENST00000449422.2	+	3	469	c.281G>A	c.(280-282)cGc>cAc	p.R94H	ABCG4_ENST00000531739.1_Missense_Mutation_p.R94H|ABCG4_ENST00000307417.3_Missense_Mutation_p.R94H	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	94	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)		AAATTCTGCCGCCGGGAGCTG	0.527																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(280-282)cGc>cAc		ATP-binding cassette, sub-family G (WHITE), member 4		G	HIS/ARG,HIS/ARG	0,4400		0,0,2200	92	101	98		281,281	4.9	1	11	dbSNP_134	98	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	29,29	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	94/647,94/647	119024778	1,12989	2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119024778G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.281G>A	11.37:g.119024778G>A	ENSP00000406874:p.Arg94His					ABCG4_ENST00000449422.2_Missense_Mutation_p.R94H|ABCG4_ENST00000531739.1_Missense_Mutation_p.R94H	p.R94H	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	3	645	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	94			ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.281G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487561	0.64074	0.0	1.16E-4	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.84	4.93	0.64822	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.197353	0.53938	N	0.000059	T	0.06416	0.0165	L	0.39467	1.215	0.35072	D	0.762546	P	0.45283	0.855	B	0.29785	0.107	T	0.28364	-1.0046	10	0.87932	D	0	-12.0178	10.6369	0.45571	0.1548:0.0:0.8452:0.0	.	94	Q9H172	ABCG4_HUMAN	H	94	ENSP00000304111:R94H;ENSP00000431915:R94H;ENSP00000406874:R94H;ENSP00000434318:R94H	ENSP00000304111:R94H	R	+	2	0	ABCG4	118529988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.515000	0.53429	1.481000	0.48307	0.591000	0.81541	CGC		0.527	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		5	375	0	0	0	1	0	5	375					A	119024778	G	A	119024778	3	1	119	1	0	0	0	0	1	0	0	0	70	1087	38	1	287	1	ABCG4	11	119024778	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	42481	119024778	15981738	44	37682											
ITFG2	55846	broad.mit.edu	37	chr12	2929953	2929953	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aactgatggtgtctcagccaGgttgtgcgtatgcaattcta	11	8	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:2929953G>T	ENST00000228799.2	+	6	749	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C	ITFG2_ENST00000542548.1_Missense_Mutation_p.G92C|ITFG2_ENST00000419778.2_Missense_Mutation_p.G27C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	204					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTCTCAGCCAGGTTGTGCGTA	0.562																																						ENST00000228799.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19						c.(610-612)Ggt>Tgt		integrin alpha FG-GAP repeat containing 2							135	115	121					12																	2929953		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2929953G>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.610G>T	12.37:g.2929953G>T	ENSP00000228799:p.Gly204Cys					ITFG2_ENST00000419778.2_Missense_Mutation_p.G27C|ITFG2_ENST00000542548.1_Missense_Mutation_p.G92C	p.G204C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		6	749	+			204					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.610G>T	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902630	0.92035	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T	0.72942	-0.7	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.85500	0.5711	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87516	0.2443	10	0.87932	D	0	-21.1172	17.6386	0.88129	0.0:0.0:1.0:0.0	.	204	Q969R8	ITFG2_HUMAN	C	204;27;92	ENSP00000228799:G204C	ENSP00000228799:G204C	G	+	1	0	ITFG2	2800214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.350000	0.97070	2.632000	0.89209	0.655000	0.94253	GGT		0.562	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		14	238	1	0	1.3612e-06	1	1.44011e-06	14	238					T	2929953	G	T	2929953	3	4	119	1	0	0	0	0	1	0	0	0	7900	1000	35	3	632	3	ITFG2	12	2929953	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		2929953	130921942	45	37683											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		22	154	1	0	2.27525e-19	1	2.44255e-19	22	154					A	25398284	C	A	25398284	3	1	119	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	22468331	25398284	108453611	46	37684											
PLXNC1	10154	broad.mit.edu	37	chr12	94641698	94641698	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctctgaatattgtgtggCgacttactgcgggtttttag	13	6	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:94641698C>T	ENST00000258526.4	+	13	2657	c.2408C>T	c.(2407-2409)gCg>gTg	p.A803V		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	803					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TATTGTGTGGCGACTTACTGC	0.428																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2407-2409)gCg>gTg		plexin C1							127	133	131					12																	94641698		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641698C>T	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2408C>T	12.37:g.94641698C>T	ENSP00000258526:p.Ala803Val						p.A803V	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			13	2657	+			803					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2408C>T	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	3.557	-0.090472	0.07053	.	.	ENSG00000136040	ENST00000258526	T	0.07114	3.22	6.16	1.83	0.25207	Cell surface receptor IPT/TIG (2);	0.869786	0.10286	N	0.692988	T	0.06096	0.0158	L	0.27053	0.805	0.09310	N	1	P	0.36944	0.574	B	0.31869	0.137	T	0.39461	-0.9613	10	0.27785	T	0.31	.	10.7249	0.46061	0.6283:0.2651:0.1066:0.0	.	803	O60486	PLXC1_HUMAN	V	803	ENSP00000258526:A803V	ENSP00000258526:A803V	A	+	2	0	PLXNC1	93165829	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.066000	0.11598	0.440000	0.26502	-0.175000	0.13238	GCG		0.428	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			26	584	0	0	0	1	0	26	584					T	94641698	C	T	94641698	3	4	119	1	0	0	0	0	1	0	0	0	12168	768	27	1	2458	1	PLXNC1	12	94641698	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	69243414	94641698	39210197	47	37685											
MLXIP	22877	broad.mit.edu	37	chr12	122623075	122623075	+	Frame_Shift_Del	DEL	C	C	-													cggcggctgcgggaggagatCgaggagctcaatgccaccat					rs370845887		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:122623075delC	ENST00000319080.7	+	14	2493	c.2361delC	c.(2359-2361)atcfs	p.I787fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.I394fs					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)		GGGAGGAGATCGAGGAGCTCA	0.632																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(2359-2361)atfs		MLX interacting protein							27	34	31					12																	122623075		2180	4275	6455	SO:0001589	frameshift_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122623075delC	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.2361delC	12.37:g.122623075delC	ENSP00000312834:p.Ile787fs					MLXIP_ENST00000538698.1_Frame_Shift_Del_p.I394fs	p.I787fs			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	14	2493	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	787			Leucine-zipper.			Frame_Shift_Del	DEL	ENST00000319080.7	37	c.2361delC																																																																																					0.632	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		17	103						17	103	---	---	---	---	-	122623075	C	-	122623075	7	5	119	1	0	1	0	1	0	0	0	0	9677	874	31	0	2415	0	MLXIP	12	122623075	Frame_Shift_Del	DEL	C	TCGA-XD-AAUI-01A-42D-A40W-08	27981377	122623075	11228820	48	37686											
FZD10	11211	broad.mit.edu	37	chr12	130649223	130649223	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gatccctgcccagtcgcccaCctgcgtgtgaacagggctgg	13	15	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr12:130649223C>A	ENST00000229030.4	+	1	2220	c.1736C>A	c.(1735-1737)aCc>aAc	p.T579N	FZD10_ENST00000539839.1_3'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	579					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGTCGCCCACCTGCGTGTGA	0.527																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1735-1737)aCc>aAc		frizzled family receptor 10							15	19	17					12																	130649223		2169	4276	6445	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130649223C>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1736C>A	12.37:g.130649223C>A	ENSP00000229030:p.Thr579Asn					FZD10_ENST00000539839.1_3'UTR	p.T579N			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	2220	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		579						Missense_Mutation	SNP	ENST00000229030.4	37	c.1736C>A	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.817078	0.32145	.	.	ENSG00000111432	ENST00000229030	T	0.77098	-1.07	4.69	4.69	0.59074	.	0.000000	0.64402	U	0.000001	T	0.70684	0.3252	L	0.27053	0.805	0.53005	D	0.999969	B	0.32968	0.392	B	0.35813	0.211	T	0.74578	-0.3619	10	0.87932	D	0	.	17.6375	0.88127	0.0:1.0:0.0:0.0	.	579	Q9ULW2	FZD10_HUMAN	N	579	ENSP00000229030:T579N	ENSP00000229030:T579N	T	+	2	0	FZD10	129215176	1.000000	0.71417	0.989000	0.46669	0.397000	0.30659	3.619000	0.54196	2.127000	0.65507	0.561000	0.74099	ACC		0.527	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	96	1	0	0.00909568	1	0.00922201	4	96					A	130649223	C	A	130649223	3	1	119	1	0	0	0	0	1	0	0	0	6156	507	18	3	1738	3	FZD10	12	130649223	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	8026148	130649223	3202672	49	37687											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	11	14	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	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_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52	42	46					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	163	0	0	0	1	0	7	163					A	132547141	G	A	132547141	2	1	119	1	0	0	0	0	0	0	0	1	5167	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	1897918	132547141	1304754	50	37688											
GPC6	10082	broad.mit.edu	37	chr13	95034762	95034762	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgagagcgtgacagcgggcaCgtccaacgaggaggaatgct	16	10	0	2	rs562467219		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr13:95034762C>T	ENST00000377047.4	+	7	1862	c.1247C>T	c.(1246-1248)aCg>aTg	p.T416M		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	416					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)				ACAGCGGGCACGTCCAACGAG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21196	0.0		0.0	False		,,,				2504	0.001					ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(1246-1248)aCg>aTg		glypican 6							145	131	135					13																	95034762		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95034762C>T	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1247C>T	13.37:g.95034762C>T	ENSP00000366246:p.Thr416Met						p.T416M	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			7	1862	+	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)	416					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1247C>T	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935396	0.52866	.	.	ENSG00000183098	ENST00000377047	T	0.51071	0.72	5.74	5.74	0.90152	.	0.262572	0.38720	N	0.001587	T	0.36496	0.0969	L	0.34521	1.04	0.28457	N	0.916084	P	0.48350	0.909	B	0.39379	0.298	T	0.44682	-0.9312	10	0.54805	T	0.06	.	12.4114	0.55469	0.0:0.923:0.0:0.077	.	416	Q9Y625	GPC6_HUMAN	M	416	ENSP00000366246:T416M	ENSP00000366246:T416M	T	+	2	0	GPC6	93832763	0.856000	0.29760	0.999000	0.59377	0.660000	0.38997	2.153000	0.42282	2.708000	0.92522	0.650000	0.86243	ACG		0.537	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		34	307	0	0	0	1	0	34	307					T	95034762	C	T	95034762	3	4	119	1	0	0	0	0	1	0	0	0	6631	536	19	1	1273	1	GPC6	13	95034762	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		95034762	20135116	51	37689											
ZNF828	283489	broad.mit.edu	37	chr13	115090249	115090249	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ccccgctgtgtcaccaggctCttggaaaccagggccacctg	11	16	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr13:115090249C>T	ENST00000361283.1	+	3	1241	c.932C>T	c.(931-933)tCt>tTt	p.S311F		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	311	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TCACCAGGCTCTTGGAAACCA	0.582																																						ENST00000361283.1																			0											c.(931-933)tCt>tTt		chromosome alignment maintaining phosphoprotein 1							53	57	56					13																	115090249		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090249C>T	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.932C>T	13.37:g.115090249C>T	ENSP00000354730:p.Ser311Phe						p.S311F	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	1241	+			311			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.932C>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035007	0.54896	.	.	ENSG00000198824	ENST00000361283	T	0.01347	4.99	5.92	5.92	0.95590	.	0.211984	0.33712	N	0.004626	T	0.05686	0.0149	L	0.54323	1.7	0.34786	D	0.735261	D	0.59767	0.986	P	0.57152	0.814	T	0.36578	-0.9742	9	.	.	.	-17.935	20.3325	0.98724	0.0:1.0:0.0:0.0	.	311	Q96JM3	ZN828_HUMAN	F	311	ENSP00000354730:S311F	.	S	+	2	0	ZNF828	114108351	0.800000	0.28916	0.999000	0.59377	0.962000	0.63368	1.509000	0.35780	2.805000	0.96524	0.655000	0.94253	TCT		0.582	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		6	176	0	0	0	1	0	6	176					T	115090249	C	T	115090249	3	4	119	1	0	0	0	0	1	0	0	0	18234	913	32	2	934	2	ZNF828	13	115090249	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	20055487	115090249	79629	52	37690											
PYGL	5836	broad.mit.edu	37	chr14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccgagcagaccagaggcGcatggtgttgacagtgttat	14	9	0	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:51387719G>A	ENST00000216392.7	-	6	1059	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PYGL_ENST00000532462.1_Missense_Mutation_p.R243C|PYGL_ENST00000544180.2_Missense_Mutation_p.R209C	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	243					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GACCAGAGGCGCATGGTGTTG	0.498																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(727-729)Cgc>Tgc		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						106	104	105					14																	51387719		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51387719G>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.727C>T	14.37:g.51387719G>A	ENSP00000216392:p.Arg243Cys					PYGL_ENST00000532462.1_Missense_Mutation_p.R243C|PYGL_ENST00000544180.2_Missense_Mutation_p.R209C	p.R243C	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			6	1059	-	all_epithelial(31;0.00825)|Breast(41;0.148)		243					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.727C>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547610	0.86022	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.96232	-3.95;-3.95;-3.95	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99267	1.0892	10	0.87932	D	0	-0.3184	19.3504	0.94381	0.0:0.0:1.0:0.0	.	209;243;243	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	C	243;209;243	ENSP00000431657:R243C;ENSP00000443787:R209C;ENSP00000216392:R243C	ENSP00000216392:R243C	R	-	1	0	PYGL	50457469	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.626000	0.46460	2.885000	0.99019	0.655000	0.94253	CGC		0.498	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		15	236	0	0	0	1	0	15	236					A	51387719	G	A	51387719	3	1	119	1	0	0	0	0	1	0	0	0	12911	1087	38	1	1876	1	PYGL	14	51387719	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		51387719	55961821	53	37691											
PLEKHG3	26030	broad.mit.edu	37	chr14	65210050	65210050	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtcgggcagggtgggcCgctgccgcagcctgagcacc	16	15	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:65210050C>T	ENST00000394691.1	+	17	3436	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R1041C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R630C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R602C			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1097							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)		CAGGGTGGGCCGCTGCCGCAG	0.731																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(3121-3123)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							16	21	19					14																	65210050		2200	4294	6494	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65210050C>T	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.3289C>T	14.37:g.65210050C>T	ENSP00000378183:p.Arg1097Cys					PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R602C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R630C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R1097C	p.R1041C	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	15	3429	+			1097					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.3121C>T		.	.	.	.	.	.	.	.	.	.	C	13.99	2.401959	0.42613	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.62364	0.48;0.03;1.37;1.37	5.22	3.38	0.38709	.	0.348750	0.24999	N	0.033935	T	0.65821	0.2728	L	0.53249	1.67	0.19300	N	0.999974	D;D;D;D	0.76494	0.999;0.998;0.988;0.997	P;P;P;P	0.53861	0.736;0.736;0.533;0.724	T	0.59026	-0.7531	10	0.87932	D	0	.	9.9514	0.41640	0.0:0.8303:0.0:0.1697	.	630;602;1097;1041	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	C	1041;1097;630;602	ENSP00000247226:R1041C;ENSP00000378183:R1097C;ENSP00000450945:R630C;ENSP00000450973:R602C	ENSP00000247226:R1041C	R	+	1	0	PLEKHG3	64279803	0.003000	0.15002	0.987000	0.45799	0.357000	0.29423	0.011000	0.13264	0.563000	0.29222	0.563000	0.77884	CGC		0.731	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		9	101	0	0	0	1	0	9	101					T	65210050	C	T	65210050	3	4	119	1	0	0	0	0	1	0	0	0	12112	652	23	1	3175	1	PLEKHG3	14	65210050	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	13822331	65210050	42139490	54	37692											
RAGE	5891	broad.mit.edu	37	chr14	102698927	102698927	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgggcggcgattctctcatCgggatcataggccaccattg	13	11	3	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:102698927C>T	ENST00000361847.2	-	9	1042	c.811G>A	c.(811-813)Gat>Aat	p.D271N	MOK_ENST00000522867.1_Silent_p.P3P|MOK_ENST00000561150.1_Silent_p.P3P|MOK_ENST00000522534.1_Silent_p.P3P|MOK_ENST00000517966.1_Silent_p.P3P|MOK_ENST00000520266.1_Intron|MOK_ENST00000522874.1_Missense_Mutation_p.D270N|MOK_ENST00000524214.1_Missense_Mutation_p.D241N|MOK_ENST00000523231.1_Silent_p.P3P|MOK_ENST00000519058.1_Silent_p.P3P|MOK_ENST00000524370.1_Silent_p.P3P|MOK_ENST00000193029.6_Missense_Mutation_p.D37N	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	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)	p.D271N(1)									ATTCTCTCATCGGGATCATAG	0.542																																						ENST00000361847.2																			1	Substitution - Missense(1)	p.D271N(1)	large_intestine(1)								c.(811-813)Gat>Aat		MOK protein kinase							151	152	152					14																	102698927		2203	4300	6503	SO:0001583	missense	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102698927C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.811G>A	14.37:g.102698927C>T	ENSP00000355304:p.Asp271Asn					MOK_ENST00000522867.1_Silent_p.P3P|MOK_ENST00000524370.1_Silent_p.P3P|MOK_ENST00000517966.1_Silent_p.P3P|MOK_ENST00000561150.1_Silent_p.P3P|MOK_ENST00000522534.1_Silent_p.P3P|MOK_ENST00000524214.1_Missense_Mutation_p.D241N|MOK_ENST00000523231.1_Silent_p.P3P|MOK_ENST00000522874.1_Missense_Mutation_p.D270N|MOK_ENST00000519058.1_Silent_p.P3P|MOK_ENST00000520266.1_Intron|MOK_ENST00000193029.6_Missense_Mutation_p.D37N	p.D271N	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			9	1042	-			271			Protein kinase.		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	ENST00000361847.2	37	c.811G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	.	16.57	3.160933	0.57368	.	.	ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214	T;T;T;T	0.64803	0.96;-0.12;-0.12;-0.12	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);	0.053829	0.64402	D	0.000001	T	0.51007	0.1649	N	0.04148	-0.265	0.47949	D	0.999553	D;D	0.56746	0.977;0.977	P;P	0.51777	0.679;0.679	T	0.61182	-0.7114	10	0.56958	D	0.05	.	14.5893	0.68351	0.0:0.9279:0.0:0.0721	.	241;271	E7ERR8;Q9UQ07	.;MOK_HUMAN	N	37;270;271;241	ENSP00000193029:D37N;ENSP00000429469:D270N;ENSP00000355304:D271N;ENSP00000428942:D241N	ENSP00000193029:D37N	D	-	1	0	RAGE	101768680	0.989000	0.36119	0.127000	0.21898	0.920000	0.55202	3.475000	0.53136	2.590000	0.87494	0.462000	0.41574	GAT		0.542	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			34	416	0	0	0	1	0	34	416					T	102698927	C	T	102698927	3	4	119	1	0	0	0	0	1	0	0	0	13056	884	31	1	464	1	RAGE	14	102698927	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	37488877	102698927	4650613	55	37693											
BRF1	2972	broad.mit.edu	37	chr14	105692436	105692437	+	Frame_Shift_Ins	INS	-	-	G													aggctggccaggccccccttINSggcctttggccggctgtttt							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr14:105692436_105692437insG	ENST00000546474.1	-	10	15976_15977	c.1017_1018insC	c.(1015-1020)gccaagfs	p.K340fs	BRF1_ENST00000446501.2_Frame_Shift_Ins_p.K102fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.K225fs|BRF1_ENST00000392557.4_Frame_Shift_Ins_p.K136fs|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.K225fs|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.K313fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	340				AK -> R (in Ref. 1; AAC50170). {ECO:0000305}.	gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		AGGCCCCCCTTGGCCTTTGGCC	0.47																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1015-1020)gcagggfs		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit																																				SO:0001589	frameshift_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105692436_105692437insG	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"General transcription factors"	11551	protein-coding gene	gene with protein product		604902	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2", "BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1018dupC	14.37:g.105692438_105692438dupG	ENSP00000448323:p.Lys340fs					BRF1_ENST00000551787.1_Intron|BRF1_ENST00000446501.2_Frame_Shift_Ins_p.G102fs|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Frame_Shift_Ins_p.G136fs|BRF1_ENST00000440513.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000327359.3_Frame_Shift_Ins_p.G225fs|BRF1_ENST00000379937.2_Frame_Shift_Ins_p.G313fs	p.G340fs	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	10	15976_15977	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	340	AK -> R (in Ref. 1; AAC50170).				B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Frame_Shift_Ins	INS	ENST00000546474.1	37	c.1017_1018insC	CCDS10001.1																																																																																				0.47	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		7	411						7	411	---	---	---	---	G	105692437	-	G	105692436	7	5	119	1	0	1	1	0	0	0	0	0	1514	1821	63	0	1051	0	BRF1	14	105692436	Frame_Shift_Ins	INS	-	TCGA-XD-AAUI-01A-42D-A40W-08	2993509	105692436	1657104	56	37694											
RYR3	6263	broad.mit.edu	37	chr15	33895400	33895400	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtacttcgagctgattatcGaccaggtggaccccttccta	10	12	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:33895400G>A	ENST00000389232.4	+	18	2069	c.1999G>A	c.(1999-2001)Gac>Aac	p.D667N	RYR3_ENST00000415757.3_Missense_Mutation_p.D667N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			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)		GCTGATTATCGACCAGGTGGA	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1999-2001)Gac>Aac		ryanodine receptor 3							139	144	142					15																	33895400		2007	4168	6175	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895400G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1999G>A	15.37:g.33895400G>A	ENSP00000373884:p.Asp667Asn					RYR3_ENST00000415757.3_Missense_Mutation_p.D667N	p.D667N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2069	+		all_lung(180;7.18e-09)	667			B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1999G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058903	0.93846	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.70516	-0.49;-0.49	5.42	4.5	0.54988	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	0.85392	0.5686	M	0.85299	2.745	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.88122	0.2832	10	0.66056	D	0.02	.	15.8752	0.79156	0.0:0.0:0.8636:0.1364	.	667;667	Q15413-2;Q15413	.;RYR3_HUMAN	N	667	ENSP00000373884:D667N;ENSP00000399610:D667N	ENSP00000354735:D667N	D	+	1	0	RYR3	31682692	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.522000	0.98032	1.529000	0.49120	-0.164000	0.13417	GAC		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			37	533	0	0	0	1	0	37	533					A	33895400	G	A	33895400	3	1	119	1	0	0	0	0	1	0	0	0	13820	1058	37	1	2069	1	RYR3	15	33895400	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		33895400	68635992	57	37695											
RYR3	6263	broad.mit.edu	37	chr15	34130000	34130000	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agatggtaaaggaattatctCcaaaaaagaattccagaagg	9	5	1	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:34130000C>A	ENST00000389232.4	+	89	11889	c.11819C>A	c.(11818-11820)tCc>tAc	p.S3940Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3935Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3940					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)		GGAATTATCTCCAAAAAAGAA	0.398																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(11818-11820)tCc>tAc		ryanodine receptor 3							82	77	79					15																	34130000		1841	4091	5932	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130000C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11819C>A	15.37:g.34130000C>A	ENSP00000373884:p.Ser3940Tyr					RYR3_ENST00000415757.3_Missense_Mutation_p.S3935Y	p.S3940Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	11889	+		all_lung(180;7.18e-09)	3940			EF-hand.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.11819C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490354	0.64074	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.85013	-1.93	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.988;0.999	D	0.93668	0.6987	10	0.59425	D	0.04	.	19.373	0.94498	0.0:1.0:0.0:0.0	.	3935;3940	Q15413-2;Q15413	.;RYR3_HUMAN	Y	3940;3936	ENSP00000373884:S3940Y	ENSP00000354735:S3936Y	S	+	2	0	RYR3	31917292	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.554000	0.82212	2.817000	0.96982	0.551000	0.68910	TCC		0.398	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			17	221	1	0	7.07596e-05	1	7.27528e-05	17	221					A	34130000	C	A	34130000	3	1	119	1	0	0	0	0	1	0	0	0	13820	855	30	3	12173	3	RYR3	15	34130000	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	234600	34130000	68401392	58	37696											
C15orf24	56851	broad.mit.edu	37	chr15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-													agctctggacatcccccgatAgcagcagcagcagcaggacg							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 24"	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		8	668						8	668	---	---	---	---	-	34393993	AGC	-	34393991	7	5	119	1	0	1	0	1	0	0	0	0	1791	420	15	0	698	0	C15orf24	15	34393991	In_Frame_Del	DEL	AGC	TCGA-XD-AAUI-01A-42D-A40W-08	263991	34393991	68137401	59	37697											
TMC3	342125	broad.mit.edu	37	chr15	81650502	81650502	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	agtcatacttttttaaaagaAtgatgaagctgtaagcaaac	7	5	1	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr15:81650502A>G	ENST00000359440.5	-	7	866	c.731T>C	c.(730-732)aTt>aCt	p.I244T	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.I244T	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						TTTTAAAAGAATGATGAAGCT	0.408																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(730-732)aTt>aCt		transmembrane channel-like 3							50	52	51					15																	81650502		1889	4106	5995	SO:0001583	missense	342125					integral to membrane		g.chr15:81650502A>G	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.731T>C	15.37:g.81650502A>G	ENSP00000352413:p.Ile244Thr					TMC3_ENST00000359440.5_Missense_Mutation_p.I244T|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	p.I244T			Q7Z5M5	TMC3_HUMAN			7	866	-			244						Missense_Mutation	SNP	ENST00000359440.5	37	c.731T>C	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.763052	0.31228	.	.	ENSG00000188869	ENST00000359440	T	0.50001	0.76	5.59	4.46	0.54185	.	0.478461	0.21754	N	0.069626	T	0.23054	0.0557	N	0.02854	-0.475	0.28128	N	0.930305	B;B	0.14805	0.004;0.011	B;B	0.17098	0.009;0.017	T	0.12863	-1.0531	10	0.39692	T	0.17	-9.4363	8.7012	0.34327	0.8534:0.0:0.1466:0.0	.	244;244	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	T	244	ENSP00000352413:I244T	ENSP00000352413:I244T	I	-	2	0	TMC3	79437557	1.000000	0.71417	0.465000	0.27155	0.944000	0.59088	5.350000	0.66016	0.971000	0.38288	0.481000	0.45027	ATT		0.408	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		5	127	0	0	0	1	0	5	127					G	81650502	A	G	81650502	3	3	119	1	0	0	0	0	1	0	0	0	16038	101	4	4	2635	4	TMC3	15	81650502	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	47256511	81650502	20880890	60	37698											
IFT140	9742	broad.mit.edu	37	chr16	1633329	1633329	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acccacctgcactccgtatcGcggctccagaaagctcgaag	9	16	0	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:1633329G>A	ENST00000426508.2	-	12	1781	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	473					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)				ACTCCGTATCGCGGCTCCAGA	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1417-1419)gCg>gTg		intraflagellar transport 140 homolog (Chlamydomonas)							87	70	76					16																	1633329		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1633329G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1418C>T	16.37:g.1633329G>A	ENSP00000406012:p.Ala473Val					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.A473V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			12	1781	-		Hepatocellular(780;0.219)	473					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1418C>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	G	5.952	0.359713	0.11239	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.69685	-0.42	5.48	-2.97	0.05530	.	1.408220	0.04710	N	0.417384	T	0.46483	0.1395	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18429	-1.0337	10	0.25106	T	0.35	.	6.8317	0.23913	0.4417:0.0:0.4466:0.1116	.	473;198	Q96RY7;B4DR58	IF140_HUMAN;.	V	473	ENSP00000406012:A473V	ENSP00000380562:A473V	A	-	2	0	IFT140	1573330	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.229000	0.09098	-0.918000	0.03808	-0.797000	0.03246	GCG		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		5	185	0	0	0	1	0	5	185					A	1633329	G	A	1633329	3	1	119	1	0	0	0	0	1	0	0	0	7586	1087	38	1	3050	1	IFT140	16	1633329	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		1633329	88721424	61	37699											
PKD1	5310	broad.mit.edu	37	chr16	2162878	2162878	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	agcacggccggcactgtggaGacctgcagaccctgcatcct	12	15	0	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:2162878G>A	ENST00000262304.4	-	13	3280	c.3072C>T	c.(3070-3072)gtC>gtT	p.V1024V	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.V1024V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1024	PKD 5. {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						GCACTGTGGAGACCTGCAGAC	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(3070-3072)gtC>gtT		polycystic kidney disease 1 (autosomal dominant)							127	123	124					16																	2162878		2197	4298	6495	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2162878G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3072C>T	16.37:g.2162878G>A						RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.V1024V	p.V1024V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			13	3280	-			1024			PKD 5.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.3072C>T	CCDS32369.1																																																																																				0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			12	156	0	0	0	1	0	12	156					A	2162878	G	A	2162878	2	1	119	1	0	0	0	0	0	0	0	1	12005	929	33	2		2	PKD1	16	2162878	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	529549	2162878	88191875	62	37700											
TAOK2	9344	broad.mit.edu	37	chr16	29994551	29994551	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaAgaggaggaggaggaagaagg	25	0	0	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:29994551A>G	ENST00000308893.4	+	12	2201	c.1158A>G	c.(1156-1158)gaA>gaG	p.E386E	TAOK2_ENST00000279394.3_Silent_p.E386E|TAOK2_ENST00000416441.2_Silent_p.E213E|TAOK2_ENST00000543033.1_Silent_p.E386E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	386	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						aggaggaggaagaggaggagg	0.612																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1156-1158)gaA>gaG		TAO kinase 2							50	49	50					16																	29994551		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994551A>G	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.1158A>G	16.37:g.29994551A>G						TAOK2_ENST00000416441.2_Silent_p.E213E|TAOK2_ENST00000279394.3_Silent_p.E386E|TAOK2_ENST00000543033.1_Silent_p.E386E	p.E386E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			12	2201	+			386			Glu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.1158A>G	CCDS10663.1																																																																																				0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		4	123	0	0	0	1	0	4	123					G	29994551	A	G	29994551	2	3	119	1	0	0	0	0	0	0	0	1	15600	69	3	4		4	TAOK2	16	29994551	Silent	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	27831673	29994551	60360202	63	37701											
CHST5	23563	broad.mit.edu	37	chr16	75564081	75564081	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcccgagcgccacgaggacaGcaccagcacgtgcacacgat	12	16	0	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:75564081G>A	ENST00000336257.3	-	3	1596	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	CHST5_ENST00000541075.1_Silent_p.L74L|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	68					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CACGAGGACAGCACCAGCACG	0.662																																						ENST00000336257.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						c.(202-204)Ctg>Ttg		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5							42	37	38					16																	75564081		2198	4300	6498	SO:0001819	synonymous_variant	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75564081G>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.202C>T	16.37:g.75564081G>A						RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.L74L	p.L68L	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN			3	1596	-			68					B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	ENST00000336257.3	37	c.202C>T	CCDS10919.1																																																																																				0.662	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		5	247	0	0	0	1	0	5	247					A	75564081	G	A	75564081	2	1	119	1	0	0	0	0	0	0	0	1	3416	962	34	2		2	CHST5	16	75564081	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	45569530	75564081	14790672	64	37702											
IL17C	27189	broad.mit.edu	37	chr16	88706390	88706390	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctcccgcgacggctcGgggctccccacacctggggc	13	20	0	0	rs376824715		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr16:88706390G>A	ENST00000244241.4	+	3	553	c.504G>A	c.(502-504)tcG>tcA	p.S168S		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	168					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|neutrophil differentiation (GO:0030223)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCGACGGCTCGGGGCTCCCCA	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		14461	0.0		0.0	False		,,,				2504	0.001					ENST00000244241.4																			0				large_intestine(1)|lung(1)	2						c.(502-504)tcG>tcA		interleukin 17C		G		0,3990		0,0,1995	32	39	37		504	-7.7	0	16		37	1,8285		0,1,4142	no	coding-synonymous	IL17C	NM_013278.3		0,1,6137	AA,AG,GG		0.0121,0.0,0.0081		168/198	88706390	1,12275	1995	4143	6138	SO:0001819	synonymous_variant	27189				cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity	g.chr16:88706390G>A	AF152099	CCDS42217.1	16q24	2011-07-14			ENSG00000124391	ENSG00000124391		"Interleukins and interleukin receptors"	5983	protein-coding gene	gene with protein product		604628				10639155	Standard	NM_013278		Approved	IL-17C, CX2, IL-21, MGC126884, MGC138401	uc002fla.3	Q9P0M4		ENST00000244241.4:c.504G>A	16.37:g.88706390G>A							p.S168S	NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	3	553	+			168					Q3MIG8|Q9HC75	Silent	SNP	ENST00000244241.4	37	c.504G>A	CCDS42217.1																																																																																				0.716	IL17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422575.1	NM_013278		18	282	0	0	0	1	0	18	282					A	88706390	G	A	88706390	2	1	119	1	0	0	0	0	0	0	0	1	7666	1103	39	1		1	IL17C	16	88706390	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	13142309	88706390	1648363	65	37703											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	15	11	1	2	rs11540652		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	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_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|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)	ENST00000420246.2	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)cGg>cAg	Other conserved DNA damage response genes	tumor protein p53		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	875	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	156	0	0	0	1	0	28	156					T	7577538	C	T	7577538	3	4	119	1	0	0	0	0	1	0	0	0	16434	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		7577538	73617672	66	37704											
DNAH9	1770	broad.mit.edu	37	chr17	11725368	11725368	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctttatagatcggatccggCgacagctgaaggtaaagagc	12	8	1	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:11725368C>T	ENST00000262442.4	+	46	8907	c.8839C>T	c.(8839-8841)Cga>Tga	p.R2947*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R2947*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2947	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)		TCGGATCCGGCGACAGCTGAA	0.463																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8839-8841)Cga>Tga		dynein, axonemal, heavy chain 9							62	60	60					17																	11725368		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11725368C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8839C>T	17.37:g.11725368C>T	ENSP00000262442:p.Arg2947*					DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R2947*	p.R2947*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	46	8907	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2947			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.8839C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	48	14.878058	0.99813	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.21	-1.36	0.09085	.	0.146107	0.23074	U	0.052233	.	.	.	.	.	.	0.21762	N	0.999553	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2049	0.59790	0.5135:0.4865:0.0:0.0	.	.	.	.	X	2947;2947;1529	.	ENSP00000262442:R2947X	R	+	1	2	DNAH9	11666093	0.296000	0.24398	0.019000	0.16419	0.046000	0.14306	0.403000	0.20982	0.203000	0.20529	0.467000	0.42956	CGA		0.463	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		17	130	0	0	0	1	0	17	130					T	11725368	C	T	11725368	4	4	119	1	0	0	0	0	0	1	0	0	4624	760	27	1	9021	1	DNAH9	17	11725368	Nonsense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	4147830	11725368	69469842	67	37705											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	369	0	0	0	1	0	6	369					C	16285560	T	C	16285560	2	2	119	1	0	0	0	0	0	0	0	1	16895	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	4560192	16285560	64909650	68	37706											
LRRC37B	114659	broad.mit.edu	37	chr17	30374829	30374829	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgttcatgaagatgttAcaagcccggaagcagcacat	12	9	1	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:30374829A>G	ENST00000341671.7	+	9	2297	c.2292A>G	c.(2290-2292)ttA>ttG	p.L764L	LRRC37B_ENST00000327564.7_Silent_p.L791L|LRRC37B_ENST00000394713.3_Silent_p.L713L|LRRC37B_ENST00000584368.1_Silent_p.L725L|LRRC37B_ENST00000543378.2_Silent_p.L682L	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	764						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TGAAGATGTTACAAGCCCGGA	0.488																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2371-2373)ttA>ttG		leucine rich repeat containing 37B							124	128	126					17																	30374829		2203	4300	6503	SO:0001819	synonymous_variant	114659					integral to membrane		g.chr17:30374829A>G	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2292A>G	17.37:g.30374829A>G						LRRC37B_ENST00000543378.2_Silent_p.L682L|LRRC37B_ENST00000584368.1_Silent_p.L725L|LRRC37B_ENST00000394713.3_Silent_p.L713L|LRRC37B_ENST00000341671.7_Silent_p.L764L	p.L791L			Q96QE4	LR37B_HUMAN			9	2434	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	764					Q17RC9|Q5YKG6	Silent	SNP	ENST00000341671.7	37	c.2373A>G	CCDS32609.1																																																																																				0.488	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		64	585	0	0	0	1	0	64	585					G	30374829	A	G	30374829	2	3	119	1	0	0	0	0	0	0	0	1	9032	388	14	4		4	LRRC37B	17	30374829	Silent	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08	14089269	30374829	50820381	69	37707											
CASC3	22794	broad.mit.edu	37	chr17	38320039	38320039	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtgagggatccatctcCagaagcagatgctccagtgc	11	11	2	3			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:38320039C>T	ENST00000264645.7	+	7	1317	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	364					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						GATCCATCTCCAGAAGCAGAT	0.587																																						ENST00000264645.7																			0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1090-1092)cCa>cTa		cancer susceptibility candidate 3							143	144	144					17																	38320039		2203	4300	6503	SO:0001583	missense	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38320039C>T	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1091C>T	17.37:g.38320039C>T	ENSP00000264645:p.Pro364Leu						p.P364L	NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN			7	1317	+			364					A8K8R0	Missense_Mutation	SNP	ENST00000264645.7	37	c.1091C>T	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426140	0.83667	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	5.61	5.61	0.85477	.	0.056403	0.64402	D	0.000001	T	0.73434	0.3586	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75187	-0.3406	9	0.72032	D	0.01	-8.0315	19.2489	0.93914	0.0:1.0:0.0:0.0	.	364;364	B4DKR6;O15234	.;CASC3_HUMAN	L	364	.	ENSP00000264645:P364L	P	+	2	0	CASC3	35573565	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.784000	0.68990	2.648000	0.89879	0.563000	0.77884	CCA		0.587	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359		33	731	0	0	0	1	0	33	731					T	38320039	C	T	38320039	3	4	119	1	0	0	0	0	1	0	0	0	2668	594	21	2	1117	2	CASC3	17	38320039	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	7945210	38320039	42875171	70	37708											
DHX58	79132	broad.mit.edu	37	chr17	40260081	40260081	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaggcatctccaggtggtCatggatttggtccatgagct	12	10	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:40260081C>A	ENST00000251642.3	-	7	946	c.724G>T	c.(724-726)Gac>Tac	p.D242Y		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	242					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAGGTGGTCATGGATTTGG	0.557																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(724-726)Gac>Tac		DEXH (Asp-Glu-X-His) box polypeptide 58							136	119	125					17																	40260081		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40260081C>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.724G>T	17.37:g.40260081C>A	ENSP00000251642:p.Asp242Tyr						p.D242Y	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	7	946	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	242					Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.724G>T	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139297	0.37728	.	.	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196	T;T	0.24350	2.0;1.86	5.08	1.82	0.25136	.	0.408706	0.26991	N	0.021480	T	0.27967	0.0689	M	0.64997	1.995	0.09310	N	0.999996	B;D	0.55385	0.245;0.971	B;P	0.47645	0.08;0.553	T	0.11348	-1.0591	10	0.45353	T	0.12	-12.1084	6.7211	0.23330	0.0:0.5553:0.2787:0.166	.	235;242	B7Z455;Q96C10	.;DHX58_HUMAN	Y	242;205;242	ENSP00000251642:D242Y;ENSP00000416389:D242Y	ENSP00000251642:D242Y	D	-	1	0	DHX58	37513607	0.000000	0.05858	0.515000	0.27774	0.061000	0.15899	0.163000	0.16520	0.117000	0.18138	0.563000	0.77884	GAC		0.557	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		8	370	1	0	3.86212e-05	1	3.99907e-05	8	370					A	40260081	C	A	40260081	3	1	119	1	0	0	0	0	1	0	0	0	4530	826	29	3	1344	3	DHX58	17	40260081	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	1940042	40260081	40935129	71	37709											
LRRC37A2	474170	broad.mit.edu	37	chr17	44627779	44627779	+	Splice_Site	DEL	A	A	-													ttttgtgtgtttttttttttAgctcaaaaaagaagttccag							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:44627779delA	ENST00000576629.1	+	11	5199		c.e11-1		LRRC37A2_ENST00000333412.3_Splice_Site|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							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)		TTTTTTTTTTAGCTCAAAAAA	0.328																																						ENST00000576629.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15						c.e11-1		leucine rich repeat containing 37, member A2							49	46	47					17																	44627779		2023	3977	6000	SO:0001630	splice_region_variant	474170					integral to membrane		g.chr17:44627779delA	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.4705-1A>-	17.37:g.44627779delA						ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Splice_Site|ARL17A_ENST00000445552.2_Intron				A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	11	5199	+		Melanoma(429;0.211)						B7ZMC3	Splice_Site	DEL	ENST00000576629.1	37		CCDS42353.1																																																																																				0.328	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607	Intron	7	877						7	877	---	---	---	---	-	44627779	A	-	44627779	8	5	119	1	0	1	0	1	0	0	1	0	9030	434	15	0	4741	0	LRRC37A2	17	44627779	Splice_Site	DEL	A	TCGA-XD-AAUI-01A-42D-A40W-08	4367698	44627779	36567431	72	37710											
SFRS1	6426	broad.mit.edu	37	chr17	56083794	56083794	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tccacccccgccgccgcctcGgcctgttccacggccgcttc	9	23	0	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:56083794G>C	ENST00000258962.4	-	2	497	c.289C>G	c.(289-291)Cga>Gga	p.R97G	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Missense_Mutation_p.R97G|SRSF1_ENST00000584773.1_Missense_Mutation_p.R97G|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	97	Gly-rich (hinge region).				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGCCGCCTCGGCCTGTTCCA	0.652																																						ENST00000582730.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(289-291)Cga>Gga		serine/arginine-rich splicing factor 1							23	28	26					17																	56083794		2202	4293	6495	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083794G>C		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.289C>G	17.37:g.56083794G>C	ENSP00000258962:p.Arg97Gly					SRSF1_ENST00000258962.4_Missense_Mutation_p.R97G|SRSF1_ENST00000584773.1_Missense_Mutation_p.R97G|SRSF1_ENST00000585096.1_Intron	p.R97G	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN			2	412	-			97			Gly-rich (hinge region).		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.289C>G	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691371	0.30052	.	.	ENSG00000136450	ENST00000258962	T	0.05996	3.36	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);	0.082940	0.48286	D	0.000191	T	0.02494	0.0076	N	0.02802	-0.49	0.52501	D	0.999959	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.44421	-0.9329	10	0.06625	T	0.88	.	10.0435	0.42173	0.0:0.1276:0.6841:0.1883	.	129;97	Q59FA2;Q07955	.;SRSF1_HUMAN	G	97	ENSP00000258962:R97G	ENSP00000258962:R97G	R	-	1	2	SRSF1	53438793	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.106000	0.50322	2.765000	0.95021	0.655000	0.94253	CGA		0.652	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		16	110	0	0	0	1	0	16	110					C	56083794	G	C	56083794	3	2	119	1	0	0	0	0	1	0	0	0	14215	1124	39	5	523	5	SFRS1	17	56083794	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	11456015	56083794	25111416	73	37711											
BPTF	2186	broad.mit.edu	37	chr17	65925454	65925454	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcatctttttttaaggcGttgttcaagtacagcagaaa	8	7	3	1	rs201775041		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:65925454G>A	ENST00000321892.4	+	19	6440	c.6379G>A	c.(6379-6381)Gtt>Att	p.V2127I	BPTF_ENST00000335221.5_Missense_Mutation_p.V2127I|BPTF_ENST00000424123.3_Missense_Mutation_p.V1988I|BPTF_ENST00000306378.6_Missense_Mutation_p.V2001I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2127					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)			TTTTTAAGGCGTTGTTCAAGT	0.433																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(6379-6381)Gtt>Att		bromodomain PHD finger transcription factor							84	82	83					17																	65925454		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65925454G>A	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.6379G>A	17.37:g.65925454G>A	ENSP00000315454:p.Val2127Ile					BPTF_ENST00000306378.6_Missense_Mutation_p.V2001I|BPTF_ENST00000335221.5_Missense_Mutation_p.V2127I|BPTF_ENST00000424123.3_Missense_Mutation_p.V1988I	p.V2127I			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		19	6440	+	all_cancers(12;6e-11)		2127					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.6379G>A		.	.	.	.	.	.	.	.	.	.	G	10.43	1.348665	0.24426	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.64803	-0.06;-0.12;-0.09	5.84	4.85	0.62838	.	.	.	.	.	T	0.44808	0.1311	N	0.17082	0.46	0.33129	D	0.542898	P;P	0.47034	0.466;0.889	B;B	0.36922	0.029;0.236	T	0.56786	-0.7921	9	0.34782	T	0.22	-11.045	15.4007	0.74838	0.0676:0.0:0.9324:0.0	.	2001;2127	Q12830-2;Q12830-4	.;.	I	2001;2127;2127	ENSP00000307208:V2001I;ENSP00000334351:V2127I;ENSP00000315454:V2127I	ENSP00000307208:V2001I	V	+	1	0	BPTF	63355916	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	3.766000	0.55280	1.443000	0.47586	0.650000	0.86243	GTT		0.433	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		12	233	0	0	0	1	0	12	233					A	65925454	G	A	65925454	3	1	119	1	0	0	0	0	1	0	0	0	1499	1145	40	1	6453	1	BPTF	17	65925454	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	9841660	65925454	15269756	74	37712											
ABCA9	10350	broad.mit.edu	37	chr17	66979885	66979885	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gcctgggggaaaagcctcagGatctctgcatggaggggctc	16	10	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979885G>A	ENST00000340001.4	-	36	4816	c.4605C>T	c.(4603-4605)atC>atT	p.I1535I	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.I1497I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1535					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)					AAAGCCTCAGGATCTCTGCAT	0.463																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4603-4605)atC>atT		ATP-binding cassette, sub-family A (ABC1), member 9							111	104	106					17																	66979885		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66979885G>A	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.4605C>T	17.37:g.66979885G>A						ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.I1497I	p.I1535I	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			36	4816	-	Breast(10;1.47e-12)		1535					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4605C>T	CCDS11681.1																																																																																				0.463	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		47	286	0	0	0	1	0	47	286					A	66979885	G	A	66979885	2	1	119	1	0	0	0	0	0	0	0	1	39	1164	41	2		2	ABCA9	17	66979885	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	1054431	66979885	14215325	75	37713											
ABCA9	10350	broad.mit.edu	37	chr17	66979974	66979974	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatttgcttttcaggtgttGgatggaaccaatacatctga	9	6	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr17:66979974G>A	ENST00000340001.4	-	36	4727	c.4516C>T	c.(4516-4518)Caa>Taa	p.Q1506*	ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q1468*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1506	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCAGGTGTTGGATGGAACCA	0.448																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4516-4518)Caa>Taa		ATP-binding cassette, sub-family A (ABC1), member 9							101	90	94					17																	66979974		2203	4300	6503	SO:0001587	stop_gained	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66979974G>A	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.4516C>T	17.37:g.66979974G>A	ENSP00000342216:p.Gln1506*					ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.Q1468*	p.Q1506*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			36	4727	-	Breast(10;1.47e-12)		1506			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	c.4516C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	43	10.258014	0.99370	.	.	ENSG00000154258	ENST00000340001;ENST00000453985	.	.	.	4.77	4.77	0.60923	.	0.000000	0.43260	D	0.000594	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1318	0.86728	0.0:0.0:1.0:0.0	.	.	.	.	X	1506;1451	.	ENSP00000342216:Q1506X	Q	-	1	0	ABCA9	64491569	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.511000	0.53400	2.366000	0.80165	0.655000	0.94253	CAA		0.448	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		29	259	0	0	0	1	0	29	259					A	66979974	G	A	66979974	4	1	119	1	0	0	0	0	0	1	0	0	39	1357	47	2	374	2	ABCA9	17	66979974	Nonsense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	89	66979974	14215236	76	37714											
DSC1	1823	broad.mit.edu	37	chr18	28710559	28710559	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccagtccctcttcttcctgcCgatcgctgcagcaacctact	6	18	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr18:28710559C>G	ENST00000257198.5	-	16	2864	c.2603G>C	c.(2602-2604)cGg>cCg	p.R868P	RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	868					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTCTTCCTGCCGATCGCTGCA	0.438																																						ENST00000257198.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(2602-2604)cGg>cCg		desmocollin 1							156	155	155					18																	28710559		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28710559C>G	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2603G>C	18.37:g.28710559C>G	ENSP00000257198:p.Arg868Pro					DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	p.R868P	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		16	2864	-			868					Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2603G>C	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460536	0.43736	.	.	ENSG00000134765	ENST00000257198	T	0.76839	-1.05	6.17	1.38	0.22167	Cadherin, cytoplasmic domain (1);	0.137951	0.33235	N	0.005138	T	0.67878	0.2940	M	0.63843	1.955	0.09310	N	1	B	0.15719	0.014	B	0.20955	0.032	T	0.60383	-0.7274	10	0.59425	D	0.04	.	1.3924	0.02253	0.1426:0.3912:0.1396:0.3265	.	868	Q08554	DSC1_HUMAN	P	868	ENSP00000257198:R868P	ENSP00000257198:R868P	R	-	2	0	DSC1	26964557	0.926000	0.31397	0.445000	0.26908	0.605000	0.37080	0.758000	0.26447	0.492000	0.27815	0.655000	0.94253	CGG		0.438	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		36	495	0	0	0	1	0	36	495					G	28710559	C	G	28710559	3	3	119	1	0	0	0	0	1	0	0	0	4781	652	23	5	85	5	DSC1	18	28710559	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08		28710559	49366689	77	37715											
LRRC8E	80131	broad.mit.edu	37	chr19	7965572	7965572	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgaagagctcttcttctgccGcaagctgcggacgttgcttc	11	13	3	1	rs190239641	byFrequency	TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:7965572G>A	ENST00000306708.6	+	3	2266	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	722					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						TTCTTCTGCCGCAAGCTGCGG	0.657													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17805	0.0		0.001	False		,,,				2504	0.0					ENST00000306708.6																			0				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						c.(2164-2166)cGc>cAc		leucine rich repeat containing 8 family, member E							65	55	58					19																	7965572		2203	4300	6503	SO:0001583	missense	80131					integral to membrane		g.chr19:7965572G>A		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.2165G>A	19.37:g.7965572G>A	ENSP00000306524:p.Arg722His					AC010336.1_ENST00000539278.1_5'UTR	p.R722H	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN			3	2266	+			722					B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	ENST00000306708.6	37	c.2165G>A	CCDS12189.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	7.848	0.723462	0.15439	.	.	ENSG00000171017	ENST00000306708	T	0.10382	2.88	4.35	2.07	0.26955	.	0.307696	0.29444	N	0.012138	T	0.06826	0.0174	L	0.31578	0.945	0.24912	N	0.992033	B	0.13594	0.008	B	0.10450	0.005	T	0.24693	-1.0153	10	0.40728	T	0.16	.	4.6497	0.12589	0.3968:0.0:0.6032:0.0	.	722	Q6NSJ5	LRC8E_HUMAN	H	722	ENSP00000306524:R722H	ENSP00000306524:R722H	R	+	2	0	LRRC8E	7871572	0.992000	0.36948	0.479000	0.27329	0.045000	0.14185	2.928000	0.48908	1.028000	0.39785	0.585000	0.79938	CGC		0.657	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461354.1	NM_025061		5	245	0	0	0	1	0	5	245					A	7965572	G	A	7965572	3	1	119	1	0	0	0	0	1	0	0	0	9063	1087	38	1	2171	1	LRRC8E	19	7965572	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		7965572	51163411	78	37716											
C19orf57	79173	broad.mit.edu	37	chr19	14006193	14006193	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agagccacctacctggagacGgcctttcctggttcctcccc	9	17	0	2	rs375479370		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:14006193G>A	ENST00000586783.1	-	2	197	c.198C>T	c.(196-198)gcC>gcT	p.A66A	C19orf57_ENST00000591586.1_Silent_p.A66A|C19orf57_ENST00000346736.2_Silent_p.A66A|C19orf57_ENST00000454313.1_Silent_p.A66A			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	66					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)			ACCTGGAGACGGCCTTTCCTG	0.562																																						ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(196-198)gcC>gcT		chromosome 19 open reading frame 57		G		0,4406		0,0,2203	164	143	150		198	-8.1	0	19		150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C19orf57	NM_024323.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		66/638	14006193	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79173				multicellular organismal development		protein binding	g.chr19:14006193G>A	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.198C>T	19.37:g.14006193G>A						C19orf57_ENST00000346736.2_Silent_p.A66A|C19orf57_ENST00000591586.1_Silent_p.A66A|C19orf57_ENST00000586783.1_Silent_p.A66A	p.A66A			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	256	-			66					Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37	c.198C>T																																																																																					0.562	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		7	376	0	0	0	1	0	7	376					A	14006193	G	A	14006193	2	1	119	1	0	0	0	0	0	0	0	1	1946	1103	39	1		1	C19orf57	19	14006193	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	6040621	14006193	45122790	79	37717											
CHST8	64377	broad.mit.edu	37	chr19	34263229	34263229	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgccgggccgtcacgccccGccacgtgtcccgtatcttcg	11	20	2	0	rs141411970		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:34263229G>A	ENST00000262622.4	+	4	1294	c.536G>A	c.(535-537)cGc>cAc	p.R179H	CHST8_ENST00000434302.1_Missense_Mutation_p.R179H|CHST8_ENST00000438847.3_Missense_Mutation_p.R179H	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	179					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)					GTCACGCCCCGCCACGTGTCC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		13778	0.0		0.001	False		,,,				2504	0.0					ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(535-537)cGc>cAc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4366		0,0,2183	17	19	18		536,536,536	3.8	1	19	dbSNP_134	18	11,8533		0,11,4261	yes	missense,missense,missense	CHST8	NM_001127895.1,NM_001127896.1,NM_022467.3	29,29,29	0,11,6444	AA,AG,GG		0.1287,0.0,0.0852	benign,benign,benign	179/425,179/425,179/425	34263229	11,12899	2183	4272	6455	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263229G>A	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.536G>A	19.37:g.34263229G>A	ENSP00000262622:p.Arg179His					CHST8_ENST00000438847.2_Missense_Mutation_p.R179H|CHST8_ENST00000434302.1_Missense_Mutation_p.R179H	p.R179H	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1294	+	Esophageal squamous(110;0.162)		179					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.536G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	1.438	-0.568416	0.03910	0.0	0.001287	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.75154	-0.91;-0.91;-0.91	4.93	3.83	0.44106	.	0.242590	0.34676	N	0.003774	T	0.52058	0.1711	L	0.27053	0.805	0.23798	N	0.996819	B	0.15141	0.012	B	0.10450	0.005	T	0.25363	-1.0134	10	0.09338	T	0.73	-5.4794	3.5745	0.07929	0.3594:0.0:0.6406:0.0	.	179	Q9H2A9	CHST8_HUMAN	H	179	ENSP00000392604:R179H;ENSP00000393879:R179H;ENSP00000262622:R179H	ENSP00000262622:R179H	R	+	2	0	CHST8	38955069	0.072000	0.21174	0.994000	0.49952	0.498000	0.33706	2.415000	0.44635	2.262000	0.75019	0.478000	0.44815	CGC		0.697	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		7	176	0	0	0	1	0	7	176					A	34263229	G	A	34263229	3	1	119	1	0	0	0	0	1	0	0	0	3419	1087	38	1	546	1	CHST8	19	34263229	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	20257036	34263229	24865754	80	37718											
LSR	51599	broad.mit.edu	37	chr19	35753531	35753531	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtgccagtgctgcccGcacacttgctgctgctacgt	12	14	0	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:35753531G>A	ENST00000361790.3	+	5	1017	c.858G>A	c.(856-858)ccG>ccA	p.P286P	LSR_ENST00000347609.4_Silent_p.P249P|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_Silent_p.P267P|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000427250.1_Intron|LSR_ENST00000602122.1_Silent_p.P267P	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	286	Cys-rich.				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)			AGTGCTGCCCGCACACTTGCT	0.622																																						ENST00000602122.1																			0				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						c.(799-801)ccG>ccA		lipolysis stimulated lipoprotein receptor							111	88	96					19																	35753531		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35753531G>A	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.858G>A	19.37:g.35753531G>A						LSR_ENST00000597933.1_3'UTR|LSR_ENST00000361790.3_Silent_p.P286P|LSR_ENST00000347609.4_Silent_p.P249P|LSR_ENST00000427250.1_Intron|LSR_ENST00000354900.3_Silent_p.P267P|LSR_ENST00000360798.3_Intron	p.P267P			Q86X29	LSR_HUMAN	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)		4	1288	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		286					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.801G>A	CCDS12450.1																																																																																				0.622	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		6	420	0	0	0	1	0	6	420					A	35753531	G	A	35753531	2	1	119	1	0	0	0	0	0	0	0	1	9102	1074	38	1		1	LSR	19	35753531	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	1490302	35753531	23375452	81	37719											
CCDC8	83987	broad.mit.edu	37	chr19	46914994	46914994	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcagcctcttccctctgGttatctgcagcctctgcccc	7	18	5	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1072-1074)aaC>aaT		coiled-coil domain containing 8							110	114	113					19																	46914994		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914994G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1074C>T	19.37:g.46914994G>A							p.N358N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1847	-			358					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1074C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	3.655	-0.070787	0.07228	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.36	-6.71	0.01760	.	.	.	.	.	T	0.31451	0.0797	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.43343	-0.9397	5	0.56958	D	0.05	-0.0528	4.9413	0.13967	0.3358:0.0:0.4408:0.2233	.	.	.	.	I	205	.	ENSP00000441180:T205I	T	-	2	0	CCDC8	51606834	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.986000	0.03747	-1.548000	0.01712	-0.772000	0.03388	ACC		0.587	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		9	703	0	0	0	1	0	9	703					A	46914994	G	A	46914994	2	1	119	1	0	0	0	0	0	0	0	1	2860	1252	44	2		2	CCDC8	19	46914994	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	11161463	46914994	12213989	82	37720											
RRAS	6237	broad.mit.edu	37	chr19	50140130	50140130	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggaagccgtggccagcacGcatgtactgctctctcatgg	12	13	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:50140130G>A	ENST00000246792.3	-	3	397	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		TGGCCAGCACGCATGTACTGC	0.662																																						ENST00000246792.3																			0				endometrium(1)|kidney(1)|lung(2)|ovary(2)	6						c.(295-297)Cgt>Tgt		related RAS viral (r-ras) oncogene homolog							89	83	85					19																	50140130		2203	4300	6503	SO:0001583	missense	6237				axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chr19:50140130G>A		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"Oncogene RRAS"	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.295C>T	19.37:g.50140130G>A	ENSP00000246792:p.Arg99Cys						p.R99C	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)	3	397	-			99					Q6FH12	Missense_Mutation	SNP	ENST00000246792.3	37	c.295C>T	CCDS12774.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167735	0.78339	.	.	ENSG00000126458	ENST00000246792	D	0.82526	-1.62	4.82	1.15	0.20763	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.93207	0.7836	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94206	0.7454	10	0.87932	D	0	.	13.017	0.58764	0.0:0.0:0.6117:0.3883	.	99	P10301	RRAS_HUMAN	C	99	ENSP00000246792:R99C	ENSP00000246792:R99C	R	-	1	0	RRAS	54831942	1.000000	0.71417	0.964000	0.40570	0.961000	0.63080	2.095000	0.41729	0.564000	0.29238	0.557000	0.71058	CGT		0.662	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465791.1	NM_006270		5	254	0	0	0	1	0	5	254					A	50140130	G	A	50140130	3	1	119	1	0	0	0	0	1	0	0	0	13726	1087	38	1	377	1	RRAS	19	50140130	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	3225136	50140130	8988853	83	37721											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	6	1	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156	149	152					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	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.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		6	721	0	0	0	1	0	6	721					A	53644386	T	A	53644386	2	1	119	1	0	0	0	0	0	0	0	1	17914	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	3504256	53644386	5484597	84	37722											
USP29	57663	broad.mit.edu	37	chr19	57641566	57641566	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	taggctctccagggtccttaTcattcatctgaaacgctata	7	11	4	1	rs145552693		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr19:57641566T>A	ENST00000254181.4	+	4	1977	c.1523T>A	c.(1522-1524)aTc>aAc	p.I508N	USP29_ENST00000598197.1_Missense_Mutation_p.I508N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	508	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)		AGGGTCCTTATCATTCATCTG	0.368																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1522-1524)aTc>aAc		ubiquitin specific peptidase 29							107	111	110					19																	57641566		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641566T>A		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.1523T>A	19.37:g.57641566T>A	ENSP00000254181:p.Ile508Asn					USP29_ENST00000598197.1_Missense_Mutation_p.I508N	p.I508N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1977	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	508						Missense_Mutation	SNP	ENST00000254181.4	37	c.1523T>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737455	0.30774	.	.	ENSG00000131864	ENST00000254181	T	0.77229	-1.08	2.69	1.66	0.24008	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.32819	U	0.005605	D	0.84483	0.5482	M	0.78916	2.43	0.31512	N	0.663476	D	0.89917	1.0	D	0.97110	1.0	T	0.81992	-0.0678	10	0.87932	D	0	-10.247	5.9622	0.19305	0.0:0.138:0.0:0.8619	.	508	Q9HBJ7	UBP29_HUMAN	N	508	ENSP00000254181:I508N	ENSP00000254181:I508N	I	+	2	0	USP29	62333378	1.000000	0.71417	0.168000	0.22838	0.221000	0.24807	3.064000	0.49986	0.430000	0.26230	0.482000	0.46254	ATC		0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			5	434	0	0	0	1	0	5	434					A	57641566	T	A	57641566	3	1	119	1	0	0	0	0	1	0	0	0	17113	1435	50	5	1525	5	USP29	19	57641566	Missense_Mutation	SNP	T	TCGA-XD-AAUI-01A-42D-A40W-08	3997180	57641566	1487417	85	37723											
STK4	6789	broad.mit.edu	37	chr20	43623799	43623801	+	In_Frame_Del	DEL	AAT	AAT	-													gctccagaagtgattcaggaAattggatacaactgtgtagc							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:43623799_43623801delAAT	ENST00000372806.3	+	6	689_691	c.594_596delAAT	c.(592-597)gaaatt>gat	p.198_199EI>D	STK4_ENST00000372801.1_In_Frame_Del_p.198_199EI>D|STK4_ENST00000499879.2_In_Frame_Del_p.143_144EI>D|STK4_ENST00000396731.4_In_Frame_Del_p.198_199EI>D	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				TGATTCAGGAAATTGGATACAAC	0.448																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				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						c.(592-597)gat>ga		serine/threonine kinase 4																																				SO:0001651	inframe_deletion	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43623799_43623801delAAT		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.594_596delAAT	20.37:g.43623799_43623801delAAT	ENSP00000361892:p.Glu198_Ile199delinsAsp					STK4_ENST00000372801.1_In_Frame_Del_p.EI198del|STK4_ENST00000396731.4_In_Frame_Del_p.EI198del|STK4_ENST00000499879.2_In_Frame_Del_p.EI143del	p.EI198del	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			6	689_691	+		Myeloproliferative disorder(115;0.0122)	198			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	In_Frame_Del	DEL	ENST00000372806.3	37	c.594_596delAAT	CCDS13341.1																																																																																				0.448	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		22	466						22	466	---	---	---	---	-	43623801	AAT	-	43623799	7	5	119	1	0	1	0	1	0	0	0	0	15358	11	1	0	616	0	STK4	20	43623799	In_Frame_Del	DEL	AAT	TCGA-XD-AAUI-01A-42D-A40W-08		43623799	19401721	86	37724											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	12	13	0	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	235	0	0	0	1	0	5	235					A	46279833	G	A	46279833	2	1	119	1	0	0	0	0	0	0	0	1	10272	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	2656034	46279833	16745687	87	37725											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654596	31654596	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agataaatagctcagtggtcGgcagctcgtaggcctgtagc	13	9	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chr21:31654596G>A	ENST00000340345.4	-	1	680	c.655C>T	c.(655-657)Cga>Tga	p.R219*		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	219	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CTCAGTGGTCGGCAGCTCGTA	0.443																																						ENST00000340345.4																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(655-657)Cga>Tga		keratin associated protein 24-1							97	95	96					21																	31654596		1861	4091	5952	SO:0001587	stop_gained	643803					keratin filament	structural molecule activity	g.chr21:31654596G>A	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.655C>T	21.37:g.31654596G>A	ENSP00000339238:p.Arg219*						p.R219*	NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN			1	680	-			219			6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].		Q1XDX0	Nonsense_Mutation	SNP	ENST00000340345.4	37	c.655C>T	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967829	0.53507	.	.	ENSG00000188694	ENST00000340345	.	.	.	4.04	3.15	0.36227	.	1.427210	0.04871	N	0.445896	.	.	.	.	.	.	0.47214	D	0.999352	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.7357	8.2674	0.31821	0.1164:0.0:0.8836:0.0	.	.	.	.	X	219	.	ENSP00000339238:R219X	R	-	1	2	KRTAP24-1	30576467	0.010000	0.17322	0.013000	0.15412	0.022000	0.10575	1.624000	0.37018	0.998000	0.38996	-0.251000	0.11542	CGA		0.443	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		14	405	0	0	0	1	0	14	405					A	31654596	G	A	31654596	4	1	119	1	0	0	0	0	0	1	0	0	8573	1124	39	1	113	1	KRTAP24-1	21	31654596	Nonsense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08		31654596	16475299	88	37726											
FRMPD4	9758	broad.mit.edu	37	chrX	12704277	12704277	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaagtctatctggaaaAtgggcagaccaaatcatttc	8	7	3	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:12704277A>G	ENST00000380682.1	+	7	1141	c.635A>G	c.(634-636)aAt>aGt	p.N212S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TATCTGGAAAATGGGCAGACC	0.398																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(634-636)aAt>aGt		FERM and PDZ domain containing 4							135	118	124					X																	12704277		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12704277A>G	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.635A>G	X.37:g.12704277A>G	ENSP00000370057:p.Asn212Ser						p.N212S	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			7	1141	+			212			FERM.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.635A>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335472	0.81801	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.76060	-0.99	5.33	5.33	0.75918	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.78456	2.415	0.47905	D	0.999546	P;P	0.51537	0.946;0.869	D;P	0.64506	0.926;0.805	D	0.86474	0.1787	10	0.56958	D	0.05	.	14.4062	0.67083	1.0:0.0:0.0:0.0	.	204;212	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	212;203;201	ENSP00000370057:N212S	ENSP00000304583:N201S	N	+	2	0	FRMPD4	12614198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.850000	0.92190	1.781000	0.52344	0.486000	0.48141	AAT		0.398	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		10	365	0	0	0	1	0	10	365					G	12704277	A	G	12704277	3	3	119	1	0	0	0	0	1	0	0	0	6086	101	4	4	661	4	FRMPD4	23	12704277	Missense_Mutation	SNP	A	TCGA-XD-AAUI-01A-42D-A40W-08		12704277	142566283	89	37727											
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-													agaagctgatgaaaaacatcAgagagagagagagtttgtaa							TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		9	350						9	350	---	---	---	---	-	16850850	AG	-	16850849	7	5	119	1	0	1	0	1	0	0	0	0	16843	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-XD-AAUI-01A-42D-A40W-08	4146572	16850849	138419711	90	37728											
USP9X	8239	broad.mit.edu	37	chrX	41029282	41029282	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aacacctctcttttgtagttCgatttccaaaccagggcaga	7	11	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:41029282C>T	ENST00000324545.8	+	19	3304	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R891*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	891					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						TTTTGTAGTTCGATTTCCAAA	0.408																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2671-2673)Cga>Tga		ubiquitin specific peptidase 9, X-linked							162	153	156					X																	41029282		2178	4292	6470	SO:0001587	stop_gained	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41029282C>T	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.2671C>T	X.37:g.41029282C>T	ENSP00000316357:p.Arg891*					USP9X_ENST00000378308.2_Nonsense_Mutation_p.R891*	p.R891*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			19	3304	+			891					O75550|Q8WWT3|Q8WX12	Nonsense_Mutation	SNP	ENST00000324545.8	37	c.2671C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	c	41	8.770551	0.98948	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.85	4.05	0.47172	.	0.104565	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.21	0.31478	0.2778:0.6494:0.0:0.0728	.	.	.	.	X	891	.	ENSP00000316357:R891X	R	+	1	2	USP9X	40914226	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.205000	0.51090	0.575000	0.29434	-0.178000	0.13098	CGA		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		39	547	0	0	0	1	0	39	547					T	41029282	C	T	41029282	4	4	119	1	0	0	0	0	0	1	0	0	17144	876	31	1	2741	1	USP9X	23	41029282	Nonsense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	24178433	41029282	114241278	91	37729											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	11	19	1	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711																																						ENST00000374888.1																			2	Substitution - Missense(2)	p.G206R(2)	lung(1)|prostate(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(616-618)Ggg>Agg		zinc finger, X-linked, duplicated B							12	14	13					X																	57619097		2186	4257	6443	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57619097G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.616G>A	X.37:g.57619097G>A	ENSP00000364023:p.Gly206Arg						p.G206R	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	829	+			206					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.616G>A	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.654782	0.00108	.	.	ENSG00000198455	ENST00000374888	T	0.11063	2.81	2.65	1.78	0.24846	.	0.160870	0.29602	N	0.011697	T	0.04452	0.0122	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41787	-0.9489	10	0.15952	T	0.53	.	4.3042	0.10938	0.3435:0.0:0.6565:0.0	.	206	P98169	ZXDB_HUMAN	R	206	ENSP00000364023:G206R	ENSP00000364023:G206R	G	+	1	0	ZXDB	57635822	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-0.287000	0.08388	0.520000	0.28426	0.556000	0.70494	GGG		0.711	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	95	0	0	0	1	0	4	95					A	57619097	G	A	57619097	3	1	119	1	0	0	0	0	1	0	0	0	18304	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	16589815	57619097	97651463	92	37730											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528527	77528527	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaactgactaaaaaggcagcGgtcacgaccatgatcattcc	8	11	2	2	rs201634768		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:77528527G>T	ENST00000373304.3	-	3	1009	c.717C>A	c.(715-717)acC>acA	p.T239T		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	239					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAAAGGCAGCGGTCACGACCA	0.338																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(715-717)acC>acA		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						104	94	97					X																	77528527		2202	4300	6502	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528527G>T	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.717C>A	X.37:g.77528527G>T							p.T239T	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	1009	-			239					B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	c.717C>A	CCDS14439.1																																																																																				0.338	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			12	319	1	0	1.41608e-15	1	1.5091e-15	12	319					T	77528527	G	T	77528527	2	4	119	1	0	0	0	0	0	0	0	1	4212	1103	39	3		3	CYSLTR1	23	77528527	Silent	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	19909430	77528527	77742033	93	37731											
PCDH19	57526	broad.mit.edu	37	chrX	99551638	99551638	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	cctttcagggtaggcctctcCtcagccgggtggtcgctgac	13	14	3	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:99551638C>G	ENST00000373034.4	-	6	4759	c.3084G>C	c.(3082-3084)gaG>gaC	p.E1028D	PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000420881.2_Missense_Mutation_p.E980D|PCDH19_ENST00000255531.7_Missense_Mutation_p.E981D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1028					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						TAGGCCTCTCCTCAGCCGGGT	0.577																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(3082-3084)gaG>gaC		protocadherin 19							75	74	74					X																	99551638		2147	4227	6374	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551638C>G	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3084G>C	X.37:g.99551638C>G	ENSP00000362125:p.Glu1028Asp					PCDH19_ENST00000420881.2_Missense_Mutation_p.E980D|PCDH19_ENST00000255531.7_Missense_Mutation_p.E981D	p.E1028D	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			6	4759	-			1028					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.3084G>C	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	4.652	0.121262	0.08881	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54071	0.59;0.64;0.6	5.73	3.95	0.45737	.	0.115763	0.56097	D	0.000025	T	0.34279	0.0892	L	0.34521	1.04	0.47862	D	0.999531	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.10382	-1.0632	10	0.14656	T	0.56	.	5.4949	0.16797	0.14:0.6354:0.0:0.2245	.	1028;981;980	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	D	980;1028;981	ENSP00000400327:E980D;ENSP00000362125:E1028D;ENSP00000255531:E981D	ENSP00000255531:E981D	E	-	3	2	PCDH19	99438294	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.647000	0.24812	1.181000	0.42912	0.600000	0.82982	GAG		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		9	232	0	0	0	1	0	9	232					G	99551638	C	G	99551638	3	3	119	1	0	0	0	0	1	0	0	0	11556	680	24	5	366	5	PCDH19	23	99551638	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	22023111	99551638	55718922	94	37732											
NRK	203447	broad.mit.edu	37	chrX	105150491	105150491	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaaacatgcttcaacaCccatttgttcgggatataaa	6	10	2	0			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:105150491C>G	ENST00000243300.9	+	11	1233	c.930C>G	c.(928-930)caC>caG	p.H310Q	NRK_ENST00000428173.2_Missense_Mutation_p.H310Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TGCTTCAACACCCATTTGTTC	0.343										HNSCC(51;0.14)																												ENST00000428173.2																			0				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						c.(928-930)caC>caG		Nik related kinase							63	52	55					X																	105150491		1832	4074	5906	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105150491C>G	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.930C>G	X.37:g.105150491C>G	ENSP00000434830:p.His310Gln	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.H310Q	p.H310Q			Q7Z2Y5	NRK_HUMAN			11	1233	+			310			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.930C>G		.	.	.	.	.	.	.	.	.	.	C	12.96	2.093751	0.36952	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.34275	1.37;1.37	5.27	-2.09	0.07232	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000386	T	0.57961	0.2089	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61734	-0.7002	10	0.87932	D	0	.	11.5948	0.50966	0.0:0.2133:0.0:0.7867	.	310	Q7Z2Y5	NRK_HUMAN	Q	310	ENSP00000434830:H310Q;ENSP00000438378:H310Q	ENSP00000434830:H310Q	H	+	3	2	NRK	105037147	0.998000	0.40836	0.981000	0.43875	0.125000	0.20455	0.774000	0.26675	-0.459000	0.07013	-0.192000	0.12808	CAC		0.343	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		6	82	0	0	0	1	0	6	82					G	105150491	C	G	105150491	3	3	119	1	0	0	0	0	1	0	0	0	10697	506	18	5	972	5	NRK	23	105150491	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	5598853	105150491	50120069	95	37733											
MORC4	79710	broad.mit.edu	37	chrX	106229348	106229348	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagggcgtcctttcctagccGcatggagcctgacttgaaac	11	12	0	2			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:106229348G>A	ENST00000355610.4	-	4	665	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Missense_Mutation_p.R131W	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	131						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						TTTCCTAGCCGCATGGAGCCT	0.473																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(391-393)Cgg>Tgg		MORC family CW-type zinc finger 4							178	168	171					X																	106229348		1889	4099	5988	SO:0001583	missense	79710						ATP binding|zinc ion binding	g.chrX:106229348G>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.391C>T	X.37:g.106229348G>A	ENSP00000347821:p.Arg131Trp					MORC4_ENST00000255495.7_Missense_Mutation_p.R131W|MORC4_ENST00000535534.1_Intron	p.R131W	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			4	665	-			131					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	c.391C>T	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835024	0.91117	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.74315	-0.83;-0.83	5.35	5.35	0.76521	ATPase-like, ATP-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.87834	0.6277	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89717	0.3916	10	0.87932	D	0	-9.9831	15.875	0.79154	0.0:0.0:1.0:0.0	.	131;131	A1YR23;Q8TE76	.;MORC4_HUMAN	W	131	ENSP00000347821:R131W;ENSP00000255495:R131W	ENSP00000255495:R131W	R	-	1	2	MORC4	106116004	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.562000	0.82300	2.565000	0.86533	0.600000	0.82982	CGG		0.473	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		11	667	0	0	0	1	0	11	667					A	106229348	G	A	106229348	3	1	119	1	0	0	0	0	1	0	0	0	9745	1086	38	1	2478	1	MORC4	23	106229348	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	1078857	106229348	49041212	96	37734											
F8	2157	broad.mit.edu	37	chrX	154134766	154134766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgttcatttagttctccacGgtataagggctgagtaaagg	11	6	2	1			TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154134766G>A	ENST00000360256.4	-	15	5502	c.5302C>T	c.(5302-5304)Cgt>Tgt	p.R1768C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1768	F5/8 type A 3.|Plastocyanin-like 5.		R -> H (in HEMA). {ECO:0000269|PubMed:12871415}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTTCTCCACGGTATAAGGGC	0.423																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM055192	F8	M		c.(5302-5304)Cgt>Tgt		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						114	109	110					X																	154134766		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154134766G>A	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.5302C>T	X.37:g.154134766G>A	ENSP00000353393:p.Arg1768Cys						p.R1768C	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			15	5502	-	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)		1768		R -> H (in HEMA).	F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5302C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899120	0.72754	.	.	ENSG00000185010	ENST00000360256	D	0.99287	-5.69	5.6	5.6	0.85130	Cupredoxin (2);	0.161419	0.53938	D	0.000042	D	0.99471	0.9812	M	0.87971	2.92	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.98619	1.0666	10	0.87932	D	0	-8.5673	17.091	0.86622	0.0:0.0:1.0:0.0	.	1768	P00451	FA8_HUMAN	C	1768	ENSP00000353393:R1768C	ENSP00000353393:R1768C	R	-	1	0	F8	153787960	0.963000	0.33076	1.000000	0.80357	0.988000	0.76386	3.384000	0.52478	2.350000	0.79820	0.600000	0.82982	CGT		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			33	563	0	0	0	1	0	33	563					A	154134766	G	A	154134766	3	1	119	1	0	0	0	0	1	0	0	0	5368	1116	39	1	1829	1	F8	23	154134766	Missense_Mutation	SNP	G	TCGA-XD-AAUI-01A-42D-A40W-08	47905418	154134766	1135794	97	37735											
TMLHE	55217	broad.mit.edu	37	chrX	154741370	154741370	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aataggtagtgtcagtgtgcCgatccagagctagcttggtg	14	7	1	1	rs201701235		TCGA-XD-AAUI-01A-42D-A40W-08	TCGA-XD-AAUI-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8c4cafb-cf40-4343-9fab-78b2e1914ad1	768e3081-1fbc-418f-9000-9721e854cc35	g.chrX:154741370C>T	ENST00000334398.3	-	5	867	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.R241Q	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	241					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTCAGTGTGCCGATCCAGAGC	0.413													C|||	1	0.000264901	0.0	0.0	3775	,	,		13009	0.0		0.001	False		,,,				2504	0.0					ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(721-723)cGg>cAg		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)		GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	189	151	164		722,722	2.8	1	X		164	3,6725		0,3,2425,1872	no	missense,missense	TMLHE	NM_001184797.1,NM_018196.3	43,43	0,3,4057,2443	TT,TC,CC,C		0.0446,0.0,0.0284	probably-damaging,probably-damaging	241/377,241/422	154741370	3,10560	2203	4300	6503	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154741370C>T	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.722G>A	X.37:g.154741370C>T	ENSP00000335261:p.Arg241Gln					TMLHE_ENST00000369439.4_Missense_Mutation_p.R241Q|TMLHE-AS1_ENST00000452506.1_RNA	p.R241Q	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN			5	867	-	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)		241					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.722G>A	CCDS14768.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.79	3.476247	0.63737	0.0	4.46E-4	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82081	-1.57;-1.57	3.64	2.77	0.32553	.	0.125013	0.53938	N	0.000049	D	0.82318	0.5011	L	0.44542	1.39	0.47949	D	0.999558	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.57960	0.756;0.83;0.778	T	0.77275	-0.2648	10	0.29301	T	0.29	-7.3997	8.53	0.33329	0.0:0.8754:0.0:0.1246	.	241;241;241	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	Q	241	ENSP00000335261:R241Q;ENSP00000358447:R241Q	ENSP00000335261:R241Q	R	-	2	0	TMLHE	154394564	0.999000	0.42202	0.989000	0.46669	0.855000	0.48748	4.043000	0.57354	0.507000	0.28148	-0.322000	0.08575	CGG		0.413	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		7	526	0	0	0	1	0	7	526					T	154741370	C	T	154741370	3	4	119	1	0	0	0	0	1	0	0	0	16284	652	23	1	699	1	TMLHE	23	154741370	Missense_Mutation	SNP	C	TCGA-XD-AAUI-01A-42D-A40W-08	606604	154741370	529190	98	37736											
PRDM16	63976	broad.mit.edu	37	chr1	3334494	3334495	+	Frame_Shift_Ins	INS	-	-	TC													cccccaccaccccttcaactINStccggtccccacccccaacg							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:3334494_3334495insTC	ENST00000270722.5	+	11	2843_2844	c.2794_2795insTC	c.(2794-2796)ttcfs	p.F932fs	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.F931fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.F933fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.F932fs|PRDM16_ENST00000378398.3_Frame_Shift_Ins_p.F932fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	932	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)		CCCCTTCAACTTCCGGTCCCCA	0.639			T	EVI1	"MDS, AML"																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"MDS, AML"		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2794-2796)ccgfs		PR domain containing 16																																				SO:0001589	frameshift_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3334494_3334495insTC	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.2795_2796dupTC	1.37:g.3334495_3334496dupTC	ENSP00000270722:p.Phe932fs					PRDM16_ENST00000270722.5_Frame_Shift_Ins_p.P932fs|PRDM16_ENST00000514189.1_Frame_Shift_Ins_p.P932fs|PRDM16_ENST00000511072.1_Frame_Shift_Ins_p.P933fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Frame_Shift_Ins_p.P931fs|PRDM16_ENST00000441472.2_Frame_Shift_Ins_p.P931fs|PRDM16_ENST00000378391.2_Frame_Shift_Ins_p.P932fs	p.P932fs			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	12	2876_2877	+	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)	932			Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Frame_Shift_Ins	INS	ENST00000270722.5	37	c.2794_2795insTC	CCDS41236.2																																																																																				0.639	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		49	289						49	289	---	---	---	---	TC	3334495	-	TC	3334494	7	5	120	1	0	1	1	0	0	0	0	0	12504	1609	56	0	2836	0	PRDM16	1	3334494	Frame_Shift_Ins	INS	-	TCGA-XD-AAUL-01A-21D-A397-08		3334494	245916127	1	37737											
GPATCH3	63906	broad.mit.edu	37	chr1	27220874	27220874	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgcagcgcttcatgccGttcccattcctcaccccggt	7	18	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:27220874G>A	ENST00000361720.5	-	3	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	302	Glu-rich.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCTTCATGCCGTTCCCATTCC	0.602																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(904-906)Cgg>Tgg		G patch domain containing 3							167	141	150					1																	27220874		2203	4300	6503	SO:0001583	missense	63906					intracellular	nucleic acid binding	g.chr1:27220874G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.904C>T	1.37:g.27220874G>A	ENSP00000354645:p.Arg302Trp						p.R302W	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	3	927	-		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)	302			Glu-rich.		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.904C>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152813	0.78001	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000374122	T	0.56776	0.44	4.57	4.57	0.56435	.	0.073564	0.56097	D	0.000023	T	0.73187	0.3555	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77534	-0.2552	10	0.87932	D	0	-19.9713	11.608	0.51043	0.0:0.0:0.6939:0.3061	.	302	Q96I76	GPTC3_HUMAN	W	302;284;113	ENSP00000354645:R302W	ENSP00000354645:R302W	R	-	1	2	GPATCH3	27093461	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.637000	0.46553	2.363000	0.80096	0.563000	0.77884	CGG		0.602	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		6	530	0	0	0	1	0	6	530					A	27220874	G	A	27220874	3	1	120	1	0	0	0	0	1	0	0	0	6621	1144	40	1	693	1	GPATCH3	1	27220874	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	23886380	27220874	222029747	2	37738											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|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)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	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.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		9	637						9	637	---	---	---	---	-	38166151	GAA	-	38166149	7	5	120	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-XD-AAUL-01A-21D-A397-08	10945275	38166149	211084472	3	37739											
MUTYH	4595	broad.mit.edu	37	chr1	45796949	45796949	+	Frame_Shift_Del	DEL	C	C	-													ggtcactggggtctgcccttCcaaggccagcccatatactt							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:45796949delC	ENST00000372098.3	-	14	1505	c.1372delG	c.(1372-1374)gaafs	p.E458fs	MUTYH_ENST00000372104.1_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.E448fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.E434fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.E142fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.E461fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.E433fs			Q9UIF7	MUTYH_HUMAN	mutY homolog	458	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTCTGCCCTTCCAAGGCCAGC	0.542			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(1381-1383)aafs	Base excision repair (BER), DNA glycosylases	mutY homolog							97	95	96					1																	45796949		2203	4300	6503	SO:0001589	frameshift_variant	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45796949delC	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.1372delG	1.37:g.45796949delC	ENSP00000361170:p.Glu458fs					MUTYH_ENST00000456914.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.E447fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.E433fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.E142fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.E448fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.E444fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.E128fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.E434fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.E458fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.E128fs	p.E461fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			14	1596	-	Acute lymphoblastic leukemia(166;0.155)		458			Nudix hydrolase.		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Frame_Shift_Del	DEL	ENST00000372098.3	37	c.1381delG	CCDS520.1																																																																																				0.542	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		67	263						67	263	---	---	---	---	-	45796949	C	-	45796949	7	5	120	1	0	1	0	1	0	0	0	0	10034	864	30	0	280	0	MUTYH	1	45796949	Frame_Shift_Del	DEL	C	TCGA-XD-AAUL-01A-21D-A397-08	7630800	45796949	203453672	4	37740											
ORC1L	4998	broad.mit.edu	37	chr1	52838869	52838869	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccctttactcgtctttcagcGcatacagcacatcatcctgg	6	15	3	0	rs184915457		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:52838869G>A	ENST00000371568.3	-	17	2788	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	ORC1_ENST00000371566.1_Missense_Mutation_p.A857V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	857	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTCTTTCAGCGCATACAGCAC	0.557																																						ENST00000371568.3																			0				breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2569-2571)gCg>gTg		origin recognition complex, subunit 1		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	123	129	127		2570,2555,2570	4.3	0.1	1		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ORC1	NM_001190818.1,NM_001190819.1,NM_004153.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	857/862,852/857,857/862	52838869	1,13005	2203	4300	6503	SO:0001583	missense	4998				cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	g.chr1:52838869G>A		CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"ATPases / AAA-type"	8487	protein-coding gene	gene with protein product	"origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1"	601902	"origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)"	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.2570C>T	1.37:g.52838869G>A	ENSP00000360623:p.Ala857Val					ORC1_ENST00000371566.1_Missense_Mutation_p.A857V	p.A857V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN			17	2788	-			857			Necessary and sufficient for ORC complex assembly.		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	c.2570C>T	CCDS566.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.81	3.226028	0.58668	0.0	1.16E-4	ENSG00000085840	ENST00000371568;ENST00000371566	T;T	0.52983	0.64;0.64	5.25	4.35	0.52113	CDC6, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77096	-0.2714	10	0.59425	D	0.04	-8.3706	13.9265	0.63966	0.073:0.0:0.927:0.0	.	852;857	B7Z8H0;Q13415	.;ORC1_HUMAN	V	857	ENSP00000360623:A857V;ENSP00000360621:A857V	ENSP00000360621:A857V	A	-	2	0	ORC1	52611457	1.000000	0.71417	0.086000	0.20670	0.022000	0.10575	8.371000	0.90123	1.451000	0.47736	0.650000	0.86243	GCG		0.557	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1	NM_004153		5	606	0	0	0	1	0	5	606					A	52838869	G	A	52838869	3	1	120	1	0	0	0	0	1	0	0	0	11303	1087	38	1	19	1	ORC1L	1	52838869	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	7041920	52838869	196411752	5	37741											
FUBP1	8880	broad.mit.edu	37	chr1	78430650	78430650	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccattttaactccagcccGttcctgttacaatcatagaa	4	12	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:78430650G>T	ENST00000370768.2	-	9	721	c.640C>A	c.(640-642)Cgg>Agg	p.R214R	FUBP1_ENST00000436586.2_Silent_p.R235R|FUBP1_ENST00000370767.1_Silent_p.R214R	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	214	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ACTCCAGCCCGTTCCTGTTAC	0.358			"F, N"		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"F, N"	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(640-642)Cgg>Agg		far upstream element (FUSE) binding protein 1							73	79	77					1																	78430650		2203	4300	6503	SO:0001819	synonymous_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430650G>T	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.640C>A	1.37:g.78430650G>T						FUBP1_ENST00000436586.2_Silent_p.R235R|FUBP1_ENST00000370768.2_Silent_p.R214R	p.R214R			Q96AE4	FUBP1_HUMAN			9	727	-			214			KH 2.		Q12828	Silent	SNP	ENST00000370768.2	37	c.640C>A	CCDS683.1																																																																																				0.358	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		29	471	1	0	1.2476e-16	1	1.45553e-16	29	471					T	78430650	G	T	78430650	2	4	120	1	0	0	0	0	0	0	0	1	6119	1144	40	3		3	FUBP1	1	78430650	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	25591781	78430650	170819971	6	37742											
COL24A1	255631	broad.mit.edu	37	chr1	86590618	86590618	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	taataataatcataaagctcAgtttcatagctattttcgat	4	6	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:86590618A>C	ENST00000370571.2	-	3	1767	c.1401T>G	c.(1399-1401)acT>acG	p.T467T	COL24A1_ENST00000436319.1_Silent_p.T467T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	467					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)		CATAAAGCTCAGTTTCATAGC	0.373																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1399-1401)acT>acG		collagen, type XXIV, alpha 1							76	68	71					1																	86590618		1826	4083	5909	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590618A>C	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.1401T>G	1.37:g.86590618A>C						COL24A1_ENST00000436319.1_Silent_p.T467T	p.T467T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1767	-			467					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.1401T>G	CCDS41353.1																																																																																				0.373	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		6	374	0	0	0	1	0	6	374					C	86590618	A	C	86590618	2	2	120	1	0	0	0	0	0	0	0	1	3692	175	7	4		4	COL24A1	1	86590618	Silent	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	8159968	86590618	162660003	7	37743											
FNDC7	163479	broad.mit.edu	37	chr1	109270590	109270590	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	actcctgcgtgcaccctttcGgctctagagtgtgacaccaa	9	14	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:109270590G>A	ENST00000370017.3	+	7	1549	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	FNDC7_ENST00000271311.2_Silent_p.S425S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	424	Fibronectin type-III 5. {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)		GCACCCTTTCGGCTCTAGAGT	0.483																																						ENST00000370017.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(1270-1272)tcG>tcA		fibronectin type III domain containing 7							242	208	219					1																	109270590		2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109270590G>A		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.1272G>A	1.37:g.109270590G>A						FNDC7_ENST00000271311.2_Silent_p.S425S	p.S424S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	7	1549	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	425			Fibronectin type-III 5.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.1272G>A	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	G	6.401	0.442051	0.12164	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.24661	0.0598	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56745	-0.7928	4	.	.	.	-10.2511	7.5534	0.27810	0.1:0.0588:0.4515:0.3897	.	.	.	.	S	200	.	.	G	+	1	0	FNDC7	109072113	0.000000	0.05858	0.062000	0.19696	0.789000	0.44602	-3.528000	0.00441	-3.670000	0.00123	-1.036000	0.02392	GGC		0.483	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		72	407	0	0	0	1	0	72	407					A	109270590	G	A	109270590	2	1	120	1	0	0	0	0	0	0	0	1	5998	1103	39	1		1	FNDC7	1	109270590	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	22679972	109270590	139980031	8	37744											
RPTN	126638	broad.mit.edu	37	chr1	152127845	152127848	+	Frame_Shift_Del	DEL	TGTC	TGTC	-													tatagtgggaactctggcctTgtctgtctgtctgaccataa							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:152127845_152127848delTGTC	ENST00000316073.3	-	3	1791_1794	c.1727_1730delGACA	c.(1726-1731)agacaafs	p.RQ576fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	576	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.466																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1726-1731)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127845_152127848delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1727_1730delGACA	1.37:g.152127853_152127856delTGTC	ENSP00000317895:p.Arg576fs						p.RQ576fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1791_1794	-			576			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1727_1730delGACA	CCDS41397.1																																																																																				0.466	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1594						7	1594	---	---	---	---	-	152127848	TGTC	-	152127845	7	5	120	1	0	1	0	1	0	0	0	0	13714	1812	63	0	628	0	RPTN	1	152127845	Frame_Shift_Del	DEL	TGTC	TCGA-XD-AAUL-01A-21D-A397-08	42857255	152127845	97122776	9	37745											
ILF2	3608	broad.mit.edu	37	chr1	153640096	153640096	+	Frame_Shift_Del	DEL	T	T	-													gtcctgtagtcattgtccccTttttataggatcccacctgt							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:153640096delT	ENST00000361891.4	-	6	454	c.329delA	c.(328-330)aagfs	p.K110fs	ILF2_ENST00000368681.1_Frame_Shift_Del_p.K110fs	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	110	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)			CATTGTCCCCTTTTTATAGGA	0.453																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(328-330)agfs		interleukin enhancer binding factor 2							324	305	311					1																	153640096		2203	4300	6503	SO:0001589	frameshift_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153640096delT	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.329delA	1.37:g.153640096delT	ENSP00000355011:p.Lys110fs					ILF2_ENST00000368681.1_Frame_Shift_Del_p.K110fs	p.K110fs	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	454	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		110			DZF.		A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Frame_Shift_Del	DEL	ENST00000361891.4	37	c.329delA	CCDS1050.1																																																																																				0.453	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		7	1276						7	1276	---	---	---	---	-	153640096	T	-	153640096	7	5	120	1	0	1	0	1	0	0	0	0	7741	1609	56	0	879	0	ILF2	1	153640096	Frame_Shift_Del	DEL	T	TCGA-XD-AAUL-01A-21D-A397-08	1512251	153640096	95610525	10	37746											
SHC1	6464	broad.mit.edu	37	chr1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacctgtttgcagtctgCggccatgaggttgaggctgc	13	11	1	2	rs371992948	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19286	0.001		0.0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(736-738)Gca>Aca		SHC (Src homology 2 domain containing) transforming protein 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192	202	199		736,406,271,406,736	5.4	1	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	1.37:g.154940985C>T	ENSP00000357430:p.Ala246Thr					SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T	p.A246T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	956	-	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)		246			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.736G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		9	1102	0	0	0	1	0	9	1102					T	154940985	C	T	154940985	3	4	120	1	0	0	0	0	1	0	0	0	14320	768	27	1	1054	1	SHC1	1	154940985	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	1300889	154940985	94309636	11	37747											
RXRG	6258	broad.mit.edu	37	chr1	165376097	165376097	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtaggcctcaagggtgGcataaaccttctctcgcaga	12	10	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:165376097G>A	ENST00000359842.5	-	9	1498	c.1196C>T	c.(1195-1197)gCc>gTc	p.A399V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	399	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CTCAAGGGTGGCATAAACCTT	0.522																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(1195-1197)gCc>gTc		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						187	148	161					1																	165376097		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165376097G>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1196C>T	1.37:g.165376097G>A	ENSP00000352900:p.Ala399Val						p.A399V	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			9	1498	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		399			Ligand-binding (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.1196C>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869333	0.91587	.	.	ENSG00000143171	ENST00000359842	D	0.96802	-4.13	4.24	4.24	0.50183	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96565	0.8879	L	0.50847	1.595	0.80722	D	1.000000	D	0.76494	0.999	D	0.76575	0.988	D	0.95762	0.8801	9	0.38643	T	0.18	.	15.7167	0.77672	0.0:0.0:1.0:0.0	.	399	P48443	RXRG_HUMAN	V	399	ENSP00000352900:A399V	ENSP00000352900:A399V	A	-	2	0	RXRG	163642721	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.336000	0.96533	2.332000	0.79248	0.563000	0.77884	GCC		0.522	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		5	353	0	0	0	1	0	5	353					A	165376097	G	A	165376097	3	1	120	1	0	0	0	0	1	0	0	0	13815	1203	42	2	203	2	RXRG	1	165376097	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	10435112	165376097	83874524	12	37748											
PTPN14	5784	broad.mit.edu	37	chr1	214557484	214557484	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggcaggtcgtggccGtgggtaggggggcggtggcc	24	8	0	0	rs200947677		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:214557484G>A	ENST00000366956.5	-	13	1908	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	572	Poly-Pro.				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)		GGTCGTGGCCGTGGGTAGGGG	0.652																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1714-1716)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 14		G	TRP/ARG	0,4406		0,0,2203	42	46	45		1714	4.7	0.9	1		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN14	NM_005401.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	572/1188	214557484	1,13005	2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557484G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1714C>T	1.37:g.214557484G>A	ENSP00000355923:p.Arg572Trp					PTPN14_ENST00000543945.1_3'UTR	p.R572W	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	1908	-			572			Poly-Pro.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.1714C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850976	0.71719	0.0	1.16E-4	ENSG00000152104	ENST00000366956	T	0.68765	-0.35	5.61	4.68	0.58851	.	0.194784	0.45606	D	0.000350	T	0.72162	0.3426	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	P	0.56434	0.798	T	0.72200	-0.4362	10	0.38643	T	0.18	.	16.3998	0.83635	0.0:0.0:0.8676:0.1324	.	572	Q15678	PTN14_HUMAN	W	572	ENSP00000355923:R572W	ENSP00000355923:R572W	R	-	1	2	PTPN14	212624107	0.883000	0.30277	0.857000	0.33713	0.992000	0.81027	3.487000	0.53222	1.482000	0.48325	0.650000	0.86243	CGG		0.652	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		57	240	0	0	0	1	0	57	240					A	214557484	G	A	214557484	3	1	120	1	0	0	0	0	1	0	0	0	12831	1144	40	1	1877	1	PTPN14	1	214557484	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	49181387	214557484	34693137	13	37749											
PARP1	142	broad.mit.edu	37	chr1	226570820	226570820	+	Frame_Shift_Del	DEL	G	G	-													ccacggaggcgctggtttctGgggggaatatacggtcctgt							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:226570820delG	ENST00000366794.5	-	8	1219	c.1076delC	c.(1075-1077)ccafs	p.P359fs		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	359					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)		GCTGGTTTCTGGGGGGAATAT	0.502								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1075-1077)cafs	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							114	142	132					1																	226570820		2203	4300	6503	SO:0001589	frameshift_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226570820delG	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.1076delC	1.37:g.226570820delG	ENSP00000355759:p.Pro359fs						p.P359fs	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	8	1219	-	Breast(184;0.133)		359					B1ANJ4|Q8IUZ9	Frame_Shift_Del	DEL	ENST00000366794.5	37	c.1076delC	CCDS1554.1																																																																																				0.502	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		7	1334						7	1334	---	---	---	---	-	226570820	G	-	226570820	7	5	120	1	0	1	0	1	0	0	0	0	11496	1348	47	0	2032	0	PARP1	1	226570820	Frame_Shift_Del	DEL	G	TCGA-XD-AAUL-01A-21D-A397-08	12013336	226570820	22679801	14	37750											
TAF5L	27097	broad.mit.edu	37	chr1	229730353	229730353	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcttcaaccgctggtcctcGccagcagacgccaagtactt	9	15	1	1	rs191870723		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:229730353G>A	ENST00000366676.1	-	4	1460	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	TAF5L_ENST00000258281.2_Silent_p.G487G			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	487					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)				GCTGGTCCTCGCCAGCAGACG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18580	0.001		0.0	False		,,,				2504	0.0					ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1459-1461)ggC>ggT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa		G		0,4406		0,0,2203	70	73	72		1461	-3.2	0.9	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAF5L	NM_014409.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		487/590	229730353	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730353G>A	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.1461C>T	1.37:g.229730353G>A						TAF5L_ENST00000366676.1_Silent_p.G487G	p.G487G	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1626	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	487					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.1461C>T	CCDS1581.1																																																																																				0.577	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		6	532	0	0	0	1	0	6	532					A	229730353	G	A	229730353	2	1	120	1	0	0	0	0	0	0	0	1	15581	1074	38	1		1	TAF5L	1	229730353	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	3159533	229730353	19520268	15	37751											
OR2C3	81472	broad.mit.edu	37	chr1	247695055	247695055	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacatgaagatgatgctcccGtaaaacagagacaccacagc	8	11	0	4	rs529863004		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:247695055G>A	ENST00000366487.3	-	2	1120	c.759C>T	c.(757-759)taC>taT	p.Y253Y	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	253						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)			TGATGCTCCCGTAAAACAGAG	0.547																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(757-759)taC>taT		olfactory receptor, family 2, subfamily C, member 3							121	109	113					1																	247695055		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695055G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.759C>T	1.37:g.247695055G>A						GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron	p.Y253Y	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1120	-	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)	253					Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.759C>T	CCDS1634.2																																																																																				0.547	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		5	347	0	0	0	1	0	5	347					A	247695055	G	A	247695055	2	1	120	1	0	0	0	0	0	0	0	1	11035	1140	40	1		1	OR2C3	1	247695055	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	17964702	247695055	1555566	16	37752											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-													ctggggtagtatttctcatcTccataatttcccctggtgtg					rs372045862		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45	47	46					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		7	358						7	358	---	---	---	---	-	248437112	T	-	248437112	7	5	120	1	0	1	0	1	0	0	0	0	11066	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-XD-AAUL-01A-21D-A397-08	742057	248437112	813509	17	37753											
TTC15	51112	broad.mit.edu	37	chr2	3392315	3392315	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgagatggaccggaggaaCgacgcctggcttcccggcga	16	12	0	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:3392315C>T	ENST00000324266.5	+	2	1116	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TRAPPC12_ENST00000382110.2_Silent_p.N307N	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	307					vesicle-mediated transport (GO:0016192)												ACCGGAGGAACGACGCCTGGC	0.677																																						ENST00000324266.5																			0											c.(919-921)aaC>aaT		trafficking protein particle complex 12							36	31	33					2																	3392315		2202	4298	6500	SO:0001819	synonymous_variant	51112						binding	g.chr2:3392315C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.921C>T	2.37:g.3392315C>T						TRAPPC12_ENST00000382110.2_Silent_p.N307N	p.N307N	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	1116	+			307					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	ENST00000324266.5	37	c.921C>T	CCDS1652.1																																																																																				0.677	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		19	126	0	0	0	1	0	19	126					T	3392315	C	T	3392315	2	4	120	1	0	0	0	0	0	0	0	1	16736	535	19	1		1	TTC15	2	3392315	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		3392315	239807058	18	37754											
DNMT3A	1788	broad.mit.edu	37	chr2	25505406	25505406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcagctgcaccctctcCctctgctggggccccgccct	10	20	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:25505406C>T	ENST00000264709.3	-	4	689	c.352G>A	c.(352-354)Gga>Aga	p.G118R	DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R|DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	118					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)					GCACCCTCTCCCTCTGCTGGG	0.657			"Mis, F, N, S"		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"Mis, F, N, S"	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(352-354)Gga>Aga		DNA (cytosine-5-)-methyltransferase 3 alpha							33	38	36					2																	25505406		2202	4299	6501	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25505406C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.352G>A	2.37:g.25505406C>T	ENSP00000264709:p.Gly118Arg					DNMT3A_ENST00000321117.5_Missense_Mutation_p.G118R|DNMT3A_ENST00000406659.3_Missense_Mutation_p.G118R	p.G118R	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			4	689	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		118					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.352G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669794	0.67814	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.93712	-3.27;-3.27	4.91	3.07	0.35406	.	0.000000	0.42964	D	0.000639	D	0.84524	0.5491	N	0.14661	0.345	0.33870	D	0.634862	B;B	0.23735	0.09;0.001	B;B	0.23419	0.046;0.0	T	0.82859	-0.0249	10	0.62326	D	0.03	-5.5202	5.9618	0.19303	0.0:0.7014:0.1958:0.1028	.	118;118	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	R	118	ENSP00000324375:G118R;ENSP00000264709:G118R	ENSP00000264709:G118R	G	-	1	0	DNMT3A	25358910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.020000	0.41010	1.046000	0.40249	0.563000	0.77884	GGA		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		5	297	0	0	0	1	0	5	297					T	25505406	C	T	25505406	3	4	120	1	0	0	0	0	1	0	0	0	4692	632	22	2	2599	2	DNMT3A	2	25505406	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	22113091	25505406	217693967	19	37755											
OTX1	5013	broad.mit.edu	37	chr2	63283259	63283261	+	In_Frame_Del	DEL	CCA	CCA	-													ccgttgagccagtcctcaggCcaccaccaccaccatcacca							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:63283259_63283261delCCA	ENST00000282549.2	+	5	1149_1151	c.873_875delCCA	c.(871-876)ggccac>ggc	p.H301del	OTX1_ENST00000366671.3_In_Frame_Del_p.H301del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	301	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGTCCTCAGGccaccaccaccac	0.64																																						ENST00000282549.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(871-876)ggc>gg		orthodenticle homeobox 1																																				SO:0001651	inframe_deletion	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283259_63283261delCCA		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.873_875delCCA	2.37:g.63283268_63283270delCCA	ENSP00000282549:p.His301del					OTX1_ENST00000366671.3_In_Frame_Del_p.GH291del	p.GH291del	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN			5	1149_1151	+	Lung NSC(7;0.121)|all_lung(7;0.211)		291			His-rich.		A6NHA2|B3KTJ4|Q53TG6	In_Frame_Del	DEL	ENST00000282549.2	37	c.873_875delCCA	CCDS1873.1																																																																																				0.64	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			7	306						7	306	---	---	---	---	-	63283261	CCA	-	63283259	7	5	120	1	0	1	0	1	0	0	0	0	11362	726	26	0	883	0	OTX1	2	63283259	In_Frame_Del	DEL	CCA	TCGA-XD-AAUL-01A-21D-A397-08	37777853	63283259	179916114	20	37756											
DYSF	8291	broad.mit.edu	37	chr2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcgatctcaaccGcatgcccaagccagccaaga	8	17	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931					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						GATCTCAACCGCATGCCCAAG	0.547																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(5791-5793)cGc>cAc		dysferlin							117	107	111					2																	71906211		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71906211G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5792G>A	2.37:g.71906211G>A	ENSP00000258104:p.Arg1931His					DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H	p.R1931H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			52	6069	+			1931					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5792G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	9.497	1.102291	0.20632	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.28	-7.9	0.01169	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.552015	0.21044	N	0.081119	T	0.49029	0.1533	N	0.21373	0.66	0.30778	N	0.742287	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.001;0.003;0.003;0.003;0.001;0.0;0.0;0.0;0.001;0.003;0.001;0.0;0.001;0.003;0.002	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.002;0.005;0.005;0.005;0.002;0.003;0.005;0.002;0.005;0.002;0.002;0.005;0.005;0.002	T	0.09618	-1.0666	10	0.20046	T	0.44	-2.9078	15.6058	0.76668	0.6902:0.0:0.3098:0.0	.	695;1963;1970;1953;1918;1949;1939;1948;1938;1962;1969;1952;1917;1932;1931	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	H	1962;1948;1969;1952;1931;1963;1932;1939;1953;1970;1949	ENSP00000407046:R1962H;ENSP00000387137:R1948H;ENSP00000386547:R1969H;ENSP00000398305:R1952H;ENSP00000258104:R1931H;ENSP00000386683:R1963H;ENSP00000377678:R1932H;ENSP00000386285:R1939H;ENSP00000386512:R1953H;ENSP00000386881:R1970H;ENSP00000386617:R1949H	ENSP00000258104:R1931H	R	+	2	0	DYSF	71759719	0.012000	0.17670	0.251000	0.24312	0.982000	0.71751	-0.679000	0.05203	-2.260000	0.00692	-0.897000	0.02905	CGC		0.547	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		4	261	0	0	0	1	0	4	261					A	71906211	G	A	71906211	3	1	120	1	0	0	0	0	1	0	0	0	4875	1087	38	1	6257	1	DYSF	2	71906211	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	8622952	71906211	171293162	21	37757											
SNRNP200	23020	broad.mit.edu	37	chr2	96969044	96969044	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcttgttgatgtcatgCcggtcctcatcacgctttct	7	12	6	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:96969044C>T	ENST00000323853.5	-	3	311	c.234G>A	c.(232-234)cgG>cgA	p.R78R	SNRNP200_ENST00000349783.5_Silent_p.R78R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	78					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						TGATGTCATGCCGGTCCTCAT	0.498																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(232-234)cgG>cgA		small nuclear ribonucleoprotein 200kDa (U5)							314	298	303					2																	96969044		2203	4300	6503	SO:0001819	synonymous_variant	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96969044C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.234G>A	2.37:g.96969044C>T						SNRNP200_ENST00000349783.5_Silent_p.R78R	p.R78R	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			3	311	-			78					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	ENST00000323853.5	37	c.234G>A	CCDS2020.1																																																																																				0.498	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		7	1293	0	0	0	1	0	7	1293					T	96969044	C	T	96969044	2	4	120	1	0	0	0	0	0	0	0	1	14902	726	26	2		2	SNRNP200	2	96969044	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	25062833	96969044	146230329	22	37758											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-													gtggaaatgtactctgggagTgatgatgatgatgattttaa							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				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						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				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						c.(409-414)agt>ag		eukaryotic translation initiation factor 5B																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	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.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.SD137del	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	613_615	+			137					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		7	395						7	395	---	---	---	---	-	99977777	TGA	-	99977775	7	5	120	1	0	1	0	1	0	0	0	0	5062	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-XD-AAUL-01A-21D-A397-08	3008731	99977775	143221598	23	37759											
RANBP2	5903	broad.mit.edu	37	chr2	109371685	109371685	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gatcagaattctttactgaaAatgatttgccaacaagtaga	7	6	2	4			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:109371685A>T	ENST00000283195.6	+	17	2562	c.2436A>T	c.(2434-2436)aaA>aaT	p.K812N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	812					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|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						CTTTACTGAAAATGATTTGCC	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2434-2436)aaA>aaT		RAN binding protein 2							156	173	167					2																	109371685		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371685A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2436A>T	2.37:g.109371685A>T	ENSP00000283195:p.Lys812Asn						p.K812N	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2562	+			812					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2436A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.71	3.197492	0.58126	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.23147	1.92	5.8	5.8	0.92144	.	.	.	.	.	T	0.17066	0.0410	L	0.27053	0.805	0.33230	D	0.555798	P	0.38922	0.651	B	0.32677	0.15	T	0.24799	-1.0150	9	0.42905	T	0.14	-15.3403	11.2285	0.48899	0.929:0.0:0.071:0.0	.	812	P49792	RBP2_HUMAN	N	812	ENSP00000283195:K812N	ENSP00000283195:K812N	K	+	3	2	RANBP2	108738117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.509000	0.53386	2.210000	0.71456	0.443000	0.29094	AAA		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	861	0	0	0	1	0	6	861					T	109371685	A	T	109371685	3	4	120	1	0	0	0	0	1	0	0	0	13078	11	1	5	2502	5	RANBP2	2	109371685	Missense_Mutation	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	9393910	109371685	133827688	24	37760											
CIR1	9541	broad.mit.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T													ctttcttttcttcctttgtaINStttttttttctttattgtta							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	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						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	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.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		8	271						8	271	---	---	---	---	T	175213713	-	T	175213712	7	5	120	1	0	1	1	0	0	0	0	0	3441	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-XD-AAUL-01A-21D-A397-08	65842027	175213712	67985661	25	37761											
TTN	7273	broad.mit.edu	37	chr2	179585746	179585746	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagcactagcttcattgatcGtaagcaatgccacagaatta	7	10	1	2	rs374430623		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:179585746G>A	ENST00000591111.1	-	77	22273	c.22049C>T	c.(22048-22050)aCg>aTg	p.T7350M	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN_ENST00000589042.1_Missense_Mutation_p.T7667M			Q8WZ42	TITIN_HUMAN	titin	12913	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTGATCGTAAGCAATGC	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(22999-23001)aCg>aTg		titin		G	MET/THR,,,	0,3976		0,0,1988	109	108	109		19268,,,	6.2	1	2		109	1,8369		0,1,4184	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	81,,,	0,1,6172	AA,AG,GG		0.0119,0.0,0.0081	probably-damaging,,,	6423/33424,,,	179585746	1,12345	1988	4185	6173	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585746G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22049C>T	2.37:g.179585746G>A	ENSP00000465570:p.Thr7350Met					TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T6423M|TTN_ENST00000591111.1_Missense_Mutation_p.T7350M|TTN-AS1_ENST00000585451.1_RNA	p.T7667M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		79	23224	-			7350					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.23000C>T		.	.	.	.	.	.	.	.	.	.	G	11.16	1.555764	0.27827	0.0	1.19E-4	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	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	0.73598	0.3607	L	0.58302	1.8	0.80722	D	1	D	0.64830	0.994	P	0.58577	0.841	T	0.75402	-0.3330	9	0.87932	D	0	.	9.8046	0.40786	0.069:0.0:0.7906:0.1404	.	7350	Q8WZ42	TITIN_HUMAN	M	6423	ENSP00000343764:T6423M	ENSP00000343764:T6423M	T	-	2	0	TTN	179293991	0.900000	0.30661	0.994000	0.49952	0.904000	0.53231	3.281000	0.51685	2.937000	0.99478	0.650000	0.86243	ACG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	576	0	0	0	1	0	6	576					A	179585746	G	A	179585746	3	1	120	1	0	0	0	0	1	0	0	0	16789	1145	40	1	81665	1	TTN	2	179585746	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	4372034	179585746	63613627	26	37762											
SGOL2	151246	broad.mit.edu	37	chr2	201437658	201437658	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	caagtcacaaatgaatttcaAacagttgatcttctcatcaa	4	9	5	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:201437658A>G	ENST00000357799.4	+	7	2687	c.2589A>G	c.(2587-2589)caA>caG	p.Q863Q		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)	863					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)		p.Q863H(1)		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						ATGAATTTCAAACAGTTGATC	0.318																																						ENST00000357799.4																			1	Substitution - Missense(1)	p.Q863H(1)	lung(1)	NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2587-2589)caA>caG		shugoshin-like 2 (S. pombe)							84	83	83					2																	201437658		1801	4063	5864	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437658A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2589A>G	2.37:g.201437658A>G							p.Q863Q	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2687	+			863					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.2589A>G	CCDS42796.1																																																																																				0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		14	483	0	0	0	1	0	14	483					G	201437658	A	G	201437658	2	3	120	1	0	0	0	0	0	0	0	1	14267	11	1	4		4	SGOL2	2	201437658	Silent	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	21851912	201437658	41761715	27	37763											
MAP2	4133	broad.mit.edu	37	chr2	210560818	210560818	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagtcagggtcccacagCgtgcgttttgcagccctaga	15	11	1	1	rs368301391		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:210560818C>T	ENST00000360351.4	+	7	4430	c.3924C>T	c.(3922-3924)agC>agT	p.S1308S	MAP2_ENST00000447185.1_Silent_p.S1304S|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1308					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)	GGTCCCACAGCGTGCGTTTTG	0.507																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3922-3924)agC>agT		microtubule-associated protein 2	Estramustine(DB01196)	C	,,,	0,4406		0,0,2203	113	113	113		,3924,,	-6.7	0.8	2		113	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,1308/1828,,	210560818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560818C>T		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.3924C>T	2.37:g.210560818C>T						MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.S1304S	p.S1308S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4430	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1308					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.3924C>T	CCDS2384.1																																																																																				0.507	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		57	331	0	0	0	1	0	57	331					T	210560818	C	T	210560818	2	4	120	1	0	0	0	0	0	0	0	1	9276	767	27	1		1	MAP2	2	210560818	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	9123160	210560818	32638555	28	37764											
USP37	57695	broad.mit.edu	37	chr2	219321859	219321859	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gactgacaacactgatgagcCggtacgaatgaggcagattt	12	8	0	5			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:219321859C>A	ENST00000258399.3	-	24	3081	c.2669G>T	c.(2668-2670)cGg>cTg	p.R890L	USP37_ENST00000418019.1_Missense_Mutation_p.R890L|USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000454775.1_Missense_Mutation_p.R890L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	890	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)		ACTGATGAGCCGGTACGAATG	0.353																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2668-2670)cGg>cTg		ubiquitin specific peptidase 37							97	87	90					2																	219321859		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219321859C>A	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2669G>T	2.37:g.219321859C>A	ENSP00000258399:p.Arg890Leu					USP37_ENST00000454775.1_Missense_Mutation_p.R890L|USP37_ENST00000415516.1_Missense_Mutation_p.R796L|USP37_ENST00000418019.1_Missense_Mutation_p.R890L	p.R890L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	24	3081	-		Renal(207;0.0915)	890					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.2669G>T	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562263	0.86335	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.52	4.52	0.55395	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	M	0.68317	2.08	0.80722	D	1	B;B	0.25904	0.112;0.137	B;B	0.26094	0.039;0.066	T	0.39643	-0.9604	10	0.87932	D	0	-8.6172	17.4426	0.87569	0.0:1.0:0.0:0.0	.	796;890	Q86T82-2;Q86T82	.;UBP37_HUMAN	L	890;890;796;890	ENSP00000258399:R890L;ENSP00000393662:R890L;ENSP00000400902:R796L;ENSP00000396585:R890L	ENSP00000258399:R890L	R	-	2	0	USP37	219030103	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.827000	0.69300	2.327000	0.79052	0.655000	0.94253	CGG		0.353	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		4	127	1	0	0.00909568	1	0.00957127	4	127					A	219321859	C	A	219321859	3	1	120	1	0	0	0	0	1	0	0	0	17122	652	23	3	282	3	USP37	2	219321859	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	8761041	219321859	23877514	29	37765											
TRIP12	9320	broad.mit.edu	37	chr2	230724186	230724186	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcactcctcgagaaTtgtctttcttaggcacctgc	8	13	3	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr2:230724186T>G	ENST00000283943.5	-	3	381	c.203A>C	c.(202-204)aAt>aCt	p.N68T	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	68					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)		TCCTCGAGAATTGTCTTTCTT	0.463																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(202-204)aAt>aCt		thyroid hormone receptor interactor 12							181	185	184					2																	230724186		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724186T>G	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.203A>C	2.37:g.230724186T>G	ENSP00000283943:p.Asn68Thr					TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.N110T|TRIP12_ENST00000389044.4_Missense_Mutation_p.N110T|TRIP12_ENST00000409677.1_Missense_Mutation_p.N110T	p.N68T	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	381	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	68					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.203A>C	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663864	0.29515	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000435716;ENST00000428959;ENST00000430954;ENST00000343290	T;T	0.43294	0.95;0.95	5.72	-0.261	0.12963	.	0.285942	0.41500	D	0.000862	T	0.18383	0.0441	N	0.03608	-0.345	0.30514	N	0.769153	B;B;B	0.12013	0.001;0.005;0.0	B;B;B	0.10450	0.001;0.005;0.0	T	0.13150	-1.0520	10	0.33141	T	0.24	.	11.6681	0.51385	0.0:0.2442:0.0:0.7558	.	68;110;68	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	68;110;110;110;68;68;110;68	ENSP00000283943:N68T;ENSP00000373696:N110T	ENSP00000283943:N68T	N	-	2	0	TRIP12	230432430	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.262000	0.32992	0.060000	0.16281	0.460000	0.39030	AAT		0.463	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		102	573	0	0	0	1	0	102	573					G	230724186	T	G	230724186	3	3	120	1	0	0	0	0	1	0	0	0	16609	1493	52	4	5931	4	TRIP12	2	230724186	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	11402327	230724186	12475187	30	37766											
CNTN4	152330	broad.mit.edu	37	chr3	3078896	3078896	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggaagacattcacagCgaccgtggtgggtttgaacc	14	8	1	3	rs151038163		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:3078896C>T	ENST00000397461.1	+	17	2360	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	659	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)		ACATTCACAGCGACCGTGGTG	0.498																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1975-1977)gCg>gTg		contactin 4		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	149	148	149		1976,989,1976,992	5.5	0.9	3	dbSNP_134	149	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	CNTN4	NM_001206955.1,NM_001206956.1,NM_175607.2,NM_175613.2	64,64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	659/1027,330/698,659/1027,331/699	3078896	2,13004	2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078896C>T	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.1976C>T	3.37:g.3078896C>T	ENSP00000380602:p.Ala659Val					CNTN4_ENST00000418658.1_Missense_Mutation_p.A659V|CNTN4_ENST00000397459.2_Missense_Mutation_p.A331V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A440V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A659V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A331V	p.A659V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2360	+		Ovarian(110;0.156)	659			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1976C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630223	0.67015	0.0	2.33E-4	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.99;0.996;0.999	P;P;D	0.66084	0.794;0.842;0.941	T	0.78974	-0.1992	10	0.87932	D	0	.	19.387	0.94560	0.0:1.0:0.0:0.0	.	658;659;659	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	V	659;659;659;440;331;331	ENSP00000396010:A659V;ENSP00000380602:A659V;ENSP00000413642:A659V;ENSP00000351267:A440V;ENSP00000380600:A331V;ENSP00000392077:A331V	ENSP00000351267:A440V	A	+	2	0	CNTN4	3053896	1.000000	0.71417	0.886000	0.34754	0.119000	0.20118	5.923000	0.70045	2.572000	0.86782	0.655000	0.94253	GCG		0.498	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			131	795	0	0	0	1	0	131	795					T	3078896	C	T	3078896	3	4	120	1	0	0	0	0	1	0	0	0	3652	768	27	1	2034	1	CNTN4	3	3078896	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		3078896	194943534	31	37767											
SETD5	55209	broad.mit.edu	37	chr3	9490247	9490247	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acactacattcgctttggctCaccctttatccctgagagac	6	14	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:9490247C>A	ENST00000406341.1	+	15	2469	c.2279C>A	c.(2278-2280)tCa>tAa	p.S760*	SETD5_ENST00000402466.1_Nonsense_Mutation_p.S662*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000488236.1_3'UTR			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																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1984-1986)tCa>tAa		SET domain containing 5							100	96	97					3																	9490247		1944	4154	6098	SO:0001587	stop_gained	55209							g.chr3:9490247C>A	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>A	3.37:g.9490247C>A	ENSP00000383939:p.Ser760*					SETD5_ENST00000407969.1_Nonsense_Mutation_p.S779*|SETD5_ENST00000302463.6_Nonsense_Mutation_p.S662*|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000406341.1_Nonsense_Mutation_p.S760*|SETD5_ENST00000402198.1_Nonsense_Mutation_p.S760*	p.S662*			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	17	2753	+	Medulloblastoma(99;0.227)		760					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Nonsense_Mutation	SNP	ENST00000406341.1	37	c.1985C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	47	13.671043	0.99756	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0268	20.5568	0.99304	0.0:1.0:0.0:0.0	.	.	.	.	X	760;662;760;779;662	.	ENSP00000302028:S662X	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		0.483	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		23	154	1	0	5.35356e-11	1	6.15659e-11	23	154					A	9490247	C	A	9490247	4	1	120	1	0	0	0	0	0	1	0	0	14184	838	29	3	2333	3	SETD5	3	9490247	Nonsense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	6411351	9490247	188532183	32	37768											
TGM4	7047	broad.mit.edu	37	chr3	44943132	44943132	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcagcagtactacaaCacgaagcaggctgtgtgctt	10	11	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:44943132C>A	ENST00000296125.4	+	7	842	c.774C>A	c.(772-774)aaC>aaA	p.N258K	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	258					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTACTACAACACGAAGCAGG	0.597																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(772-774)aaC>aaA		transglutaminase 4	L-Glutamine(DB00130)						125	116	119					3																	44943132		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44943132C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.774C>A	3.37:g.44943132C>A	ENSP00000296125:p.Asn258Lys						p.N258K	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	7	842	+			258					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.774C>A	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.652828	0.00785	.	.	ENSG00000163810	ENST00000296125	T	0.47177	0.85	2.69	0.475	0.16774	Transglutaminase-like (1);	3.486220	0.04860	U	0.443878	T	0.13713	0.0332	N	0.00879	-1.12	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36696	-0.9737	10	0.02654	T	1	.	1.8406	0.03149	0.2425:0.2526:0.3829:0.122	.	258	P49221	TGM4_HUMAN	K	258	ENSP00000296125:N258K	ENSP00000296125:N258K	N	+	3	2	TGM4	44918136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.024000	0.12435	0.409000	0.25649	0.563000	0.77884	AAC		0.597	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		30	159	1	0	2.65835e-16	1	3.07909e-16	30	159					A	44943132	C	A	44943132	3	1	120	1	0	0	0	0	1	0	0	0	15884	477	17	3	800	3	TGM4	3	44943132	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	35452885	44943132	153079298	33	37769											
RBM15B	29890	broad.mit.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-													catggggctgaggaacggggCcaccaccaccaccaccacga					rs147738916	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1990-1995)ggc>gg		RNA binding motif protein 15B																																				SO:0001651	inframe_deletion	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430822_51430824delCCA	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del						p.GH664del	NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	2092_2094	+			664			His-rich.		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	ENST00000323686.4	37	c.1992_1994delCCA	CCDS33764.1																																																																																				0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		7	178						7	178	---	---	---	---	-	51430824	CCA	-	51430822	7	5	120	1	0	1	0	1	0	0	0	0	13167	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-XD-AAUL-01A-21D-A397-08	6487690	51430822	146591608	34	37770											
ACTR8	93973	broad.mit.edu	37	chr3	53906488	53906488	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcgccctgagatctgtgctGcaaagtcgtcattttctgtc	9	11	3	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:53906488G>A	ENST00000335754.3	-	10	1325	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000488802.1_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	409					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)		GATCTGTGCTGCAAAGTCGTC	0.463																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1225-1227)Cag>Tag		ARP8 actin-related protein 8 homolog (yeast)							211	223	219					3																	53906488		2203	4300	6503	SO:0001587	stop_gained	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53906488G>A		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.1225C>T	3.37:g.53906488G>A	ENSP00000336842:p.Gln409*					ACTR8_ENST00000482349.1_Nonsense_Mutation_p.Q298*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.Q114*	p.Q409*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		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)	10	1325	-			409					B3KSW7|Q8N566|Q9H663	Nonsense_Mutation	SNP	ENST00000335754.3	37	c.1225C>T	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	38	6.893393	0.97916	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909	.	.	.	5.87	5.87	0.94306	.	0.059585	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2682	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	X	409;298;114	.	ENSP00000231909:Q114X	Q	-	1	0	ACTR8	53881528	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.441000	0.97557	2.941000	0.99782	0.655000	0.94253	CAG		0.463	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		6	947	0	0	0	1	0	6	947					A	53906488	G	A	53906488	4	1	120	1	0	0	0	0	0	1	0	0	217	1328	46	2	665	2	ACTR8	3	53906488	Nonsense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	2475666	53906488	144115942	35	37771											
PDZRN3	23024	broad.mit.edu	37	chr3	73438995	73438995	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtctccttctcggatgCgcccatccttggctgcaatg	11	14	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:73438995C>T	ENST00000263666.4	-	7	1502	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTCGGATGCGCCCATCCTT	0.468																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1387-1389)cGc>cAc		PDZ domain containing ring finger 3							174	133	147					3																	73438995		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73438995C>T	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.1388G>A	3.37:g.73438995C>T	ENSP00000263666:p.Arg463His					PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180H|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120H|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185H|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120H	p.R463H	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	7	1502	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	463			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1388G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.541639|5.541639	0.96474|0.96474	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71;0.71	5.43|5.43	5.43|5.43	0.79202|0.79202	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78020|0.78020	0.4218|0.4218	M|M	0.93550|0.93550	3.43|3.43	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;0.997;0.999;0.998	D|D	0.84050|0.84050	0.0369|0.0369	5|10	.|0.87932	.|D	.|0	.|.	18.8532|18.8532	0.92241|0.92241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|185;180;180;463	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	T|H	60|463;185;120;120;180;463;161	.|ENSP00000263666:R463H;ENSP00000442026:R185H;ENSP00000418168:R120H;ENSP00000418484:R120H;ENSP00000418624:R180H;ENSP00000419250:R161H	.|ENSP00000263666:R463H	A|R	-|-	1|2	0|0	PDZRN3|PDZRN3	73521685|73521685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.638000|7.638000	0.83328|0.83328	2.547000|2.547000	0.85894|0.85894	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.468	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		5	305	0	0	0	1	0	5	305					T	73438995	C	T	73438995	3	4	120	1	0	0	0	0	1	0	0	0	11751	768	27	1	1828	1	PDZRN3	3	73438995	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	19532507	73438995	124583435	36	37772											
COL6A5	256076	broad.mit.edu	37	chr3	130189737	130189737	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccatcaacaaatatcccacCgaagatatgaaagccacatg	6	12	1	2	rs145645992		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:130189737C>T	ENST00000432398.2	+	39	7994	c.7500C>T	c.(7498-7500)acC>acT	p.T2500T	COL6A5_ENST00000265379.6_Silent_p.T2500T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2500	Nonhelical 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						AATATCCCACCGAAGATATGA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		17835	0.001		0.0	False		,,,				2504	0.0					ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7498-7500)acC>acT		collagen, type VI, alpha 5							82	80	80					3																	130189737		1890	4124	6014	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130189737C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7500C>T	3.37:g.130189737C>T						COL6A5_ENST00000432398.2_Silent_p.T2500T	p.T2500T			A8TX70	CO6A5_HUMAN			39	7994	+			2500			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.7500C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.935	-0.444990	0.04604	.	.	ENSG00000172752	ENST00000512836	.	.	.	5.35	-5.88	0.02290	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1187	0.03720	0.3297:0.4103:0.11:0.15	.	.	.	.	X	752	.	.	R	+	1	2	COL6A5	131672427	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-1.103000	0.03329	-0.753000	0.04721	0.655000	0.94253	CGA		0.433	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		28	120	0	0	0	1	0	28	120					T	130189737	C	T	130189737	2	4	120	1	0	0	0	0	0	0	0	1	3711	639	23	1		1	COL6A5	3	130189737	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	56750742	130189737	67832693	37	37773											
CCRL1	51554	broad.mit.edu	37	chr3	132319326	132319326	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgactacagtcaatatgaaCtgatctgtatcaaagaagat	7	6	3	5			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																						ENST00000249887.2																			1	Substitution - coding silent(1)	p.L29L(1)	endometrium(1)								c.(85-87)Ctg>Ttg		atypical chemokine receptor 4							58	58	58					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319326C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T						ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	p.L29L	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	181	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.85C>T	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		4	156	0	0	0	1	0	4	156					T	132319326	C	T	132319326	2	4	120	1	0	0	0	0	0	0	0	1	2958	564	20	2		2	CCRL1	3	132319326	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	2129589	132319326	65703104	38	37774											
TRIM42	287015	broad.mit.edu	37	chr3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatggaaactgctatgtgcGtttgctgtccatgttgtaca	10	9	0	0	rs116143762		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:140397090G>A	ENST00000286349.3	+	1	210	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	7	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						TGCTATGTGCGTTTGCTGTCC	0.507																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(19-21)Gtt>Att		tripartite motif containing 42		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	368	307	328		19	0.6	1	3	dbSNP_132	328	0,8600		0,0,4300	no	missense	TRIM42	NM_152616.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	7/724	140397090	1,13005	2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397090G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.19G>A	3.37:g.140397090G>A	ENSP00000286349:p.Val7Ile						p.V7I	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			1	210	+			7			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.19G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	8.384	0.838139	0.16891	2.27E-4	0.0	ENSG00000155890	ENST00000286349	T	0.37411	1.2	5.37	0.561	0.17285	.	0.904453	0.09312	N	0.819434	T	0.14874	0.0359	N	0.03608	-0.345	0.20764	N	0.999857	B	0.09022	0.002	B	0.04013	0.001	T	0.25082	-1.0142	10	0.29301	T	0.29	-13.3898	5.8185	0.18514	0.1808:0.4034:0.4158:0.0	.	7	Q8IWZ5	TRI42_HUMAN	I	7	ENSP00000286349:V7I	ENSP00000286349:V7I	V	+	1	0	TRIM42	141879780	0.019000	0.18553	0.964000	0.40570	0.414000	0.31173	0.278000	0.18753	0.657000	0.30906	-0.214000	0.12660	GTT		0.507	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		5	745	0	0	0	1	0	5	745					A	140397090	G	A	140397090	3	1	120	1	0	0	0	0	1	0	0	0	16570	1145	40	1	21	1	TRIM42	3	140397090	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	8077764	140397090	57625340	39	37775											
P2RY1	5028	broad.mit.edu	37	chr3	152554482	152554482	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatgacagggtttatgCcacgtatcaggtgacaagag	11	7	2	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:152554482C>T	ENST00000305097.3	+	1	1747	c.911C>T	c.(910-912)gCc>gTc	p.A304V	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	304					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AGGGTTTATGCCACGTATCAG	0.478																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(910-912)gCc>gTc		purinergic receptor P2Y, G-protein coupled, 1							108	110	110					3																	152554482		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554482C>T	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.911C>T	3.37:g.152554482C>T	ENSP00000304767:p.Ala304Val						p.A304V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1747	+			304						Missense_Mutation	SNP	ENST00000305097.3	37	c.911C>T	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058394	0.36277	.	.	ENSG00000169860	ENST00000305097	T	0.12984	2.63	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.05937	-1.0855	10	0.11794	T	0.64	.	18.5615	0.91101	0.0:1.0:0.0:0.0	.	304	P47900	P2RY1_HUMAN	V	304	ENSP00000304767:A304V	ENSP00000304767:A304V	A	+	2	0	P2RY1	154037172	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.711000	0.84669	2.618000	0.88619	0.563000	0.77884	GCC		0.478	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		5	482	0	0	0	1	0	5	482					T	152554482	C	T	152554482	3	4	120	1	0	0	0	0	1	0	0	0	11388	739	26	2	913	2	P2RY1	3	152554482	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	12157392	152554482	45467948	40	37776											
BCL6	604	broad.mit.edu	37	chr3	187447157	187447157	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	attcttactgctgcaggactCtgtgggcgagttgggctggc	15	9	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr3:187447157C>T	ENST00000406870.2	-	5	1402	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	BCL6_ENST00000450123.2_Missense_Mutation_p.E346K|BCL6_ENST00000232014.4_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	346					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|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 isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGCAGGACTCTGTGGGCGAG	0.587			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																	ENST00000406870.2				Dom	yes		3	3q27	604	"T, Mis"	B-cell CLL/lymphoma 6			L	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"		"NHL, CLL"		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(1036-1038)Gag>Aag		B-cell CLL/lymphoma 6							113	133	126					3																	187447157		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447157C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1036G>A	3.37:g.187447157C>T	ENSP00000384371:p.Glu346Lys					BCL6_ENST00000232014.4_Missense_Mutation_p.E346K|BCL6_ENST00000450123.2_Missense_Mutation_p.E346K|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	p.E346K	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1402	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		346					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.1036G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100426	0.94245	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.14391	2.51;2.51;2.6	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.73380	0.978;0.98	T	0.01382	-1.1369	10	0.56958	D	0.05	.	18.9993	0.92826	0.0:1.0:0.0:0.0	.	346;346	B8PSA7;P41182	.;BCL6_HUMAN	K	346	ENSP00000384371:E346K;ENSP00000232014:E346K;ENSP00000413122:E346K	ENSP00000232014:E346K	E	-	1	0	BCL6	188929851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.260000	0.78391	2.815000	0.96918	0.561000	0.74099	GAG		0.587	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		127	685	0	0	0	1	0	127	685					T	187447157	C	T	187447157	3	4	120	1	0	0	0	0	1	0	0	0	1377	922	32	2	1108	2	BCL6	3	187447157	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	34892675	187447157	10575273	41	37777											
TMEM175	84286	broad.mit.edu	37	chr4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-													ctctgggcatcttcttgttcTgtgtgtgtgtgatcgccatt							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						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)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	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.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		11	769						11	769	---	---	---	---	-	946207	TG	-	946206	7	5	120	1	0	1	0	1	0	0	0	0	16143	1580	55	0	452	0	TMEM175	4	946206	Frame_Shift_Del	DEL	TG	TCGA-XD-AAUL-01A-21D-A397-08		946206	190208070	42	37778											
CRIPAK	285464	broad.mit.edu	37	chr4	1388986	1388986	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccgatgcggagtgcccGcctgctcacacgtgccgatg	14	15	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:1388986G>A	ENST00000324803.4	+	1	3647	c.687G>A	c.(685-687)ccG>ccA	p.P229P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	229					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGGAGTGCCCGCCTGCTCACA	0.672																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(685-687)ccG>ccA		cysteine-rich PAK1 inhibitor							166	128	141					4																	1388986		2184	4286	6470	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388986G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.687G>A	4.37:g.1388986G>A							p.P229P	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3647	+			229					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.687G>A	CCDS3349.1																																																																																				0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		9	1026	0	0	0	1	0	9	1026					A	1388986	G	A	1388986	2	1	120	1	0	0	0	0	0	0	0	1	3886	1074	38	1		1	CRIPAK	4	1388986	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	442780	1388986	189765290	43	37779											
SORCS2	57537	broad.mit.edu	37	chr4	7691260	7691260	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggcagacaacccctaCgtatcaggcaccgtgcacac	10	16	1	1	rs541579051		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:7691260C>T	ENST00000507866.2	+	11	1645	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	SORCS2_ENST00000329016.9_Silent_p.Y340Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	512					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACCCCTACGTATCAGGCA	0.592																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1534-1536)taC>taT		sortilin-related VPS10 domain containing receptor 2							38	42	40					4																	7691260		2137	4245	6382	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7691260C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1536C>T	4.37:g.7691260C>T						SORCS2_ENST00000329016.9_Silent_p.Y340Y	p.Y512Y	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			11	1645	+			512					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.1536C>T	CCDS47008.1																																																																																				0.592	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		10	51	0	0	0	1	0	10	51					T	7691260	C	T	7691260	2	4	120	1	0	0	0	0	0	0	0	1	14981	547	19	1		1	SORCS2	4	7691260	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	6302274	7691260	183463016	44	37780											
STIM2	57620	broad.mit.edu	37	chr4	27019384	27019384	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagaagcagcagcctgtgccGttcacgccgcagcattgtgc	12	14	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:27019384G>A	ENST00000467011.1	+	11	1966	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	STIM2_ENST00000465503.1_Missense_Mutation_p.R522H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000412829.2_Missense_Mutation_p.R601H|STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000382009.3_Missense_Mutation_p.R609H	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	514					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)	p.R601L(1)		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)				AGCCTGTGCCGTTCACGCCGC	0.597																																						ENST00000382009.3																			1	Substitution - Missense(1)	p.R601L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1825-1827)cGt>cAt		stromal interaction molecule 2							176	159	165					4																	27019384		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019384G>A	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.1541G>A	4.37:g.27019384G>A	ENSP00000419383:p.Arg514His					STIM2_ENST00000412829.2_Missense_Mutation_p.R601H|STIM2_ENST00000237364.5_Missense_Mutation_p.R601H|STIM2_ENST00000467011.1_Missense_Mutation_p.R514H|STIM2_ENST00000467087.1_Missense_Mutation_p.R514H|STIM2_ENST00000465503.1_Missense_Mutation_p.R522H	p.R609H	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN			12	2093	+		Breast(46;0.0503)	514					A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.1826G>A	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637661	0.87760	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.79940	-1.2;-1.22;-1.23;-1.2;-1.23;-1.18;-1.32;-1.31	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.991;0.991;0.996	D	0.87975	0.2739	10	0.72032	D	0.01	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	514;601;609;601	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	H	514;609;601;514;601;522;222;116	ENSP00000419073:R514H;ENSP00000371439:R609H;ENSP00000237364:R601H;ENSP00000419383:R514H;ENSP00000404812:R601H;ENSP00000417569:R522H;ENSP00000420113:R222H;ENSP00000419536:R116H	ENSP00000237364:R601H	R	+	2	0	STIM2	26628482	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.877000	0.87225	2.673000	0.90976	0.650000	0.86243	CGT		0.597	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		7	573	0	0	0	1	0	7	573					A	27019384	G	A	27019384	3	1	120	1	0	0	0	0	1	0	0	0	15336	1145	40	1	1611	1	STIM2	4	27019384	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	19328124	27019384	164134892	45	37781											
OCIAD2	132299	broad.mit.edu	37	chr4	48899863	48899863	+	Frame_Shift_Del	DEL	A	A	-													gacaagcatgcttacaagagAaaaaggcagagctgtaaagc							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:48899863delA	ENST00000508632.1	-	4	407	c.175delT	c.(175-177)tctfs	p.S59fs	OCIAD2_ENST00000273860.4_Frame_Shift_Del_p.S59fs|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	59	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						CTTACAAGAGAAAAAGGCAGA	0.368																																						ENST00000508632.1																			0				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						c.(175-177)ctfs		OCIA domain containing 2							89	94	92					4																	48899863		2203	4300	6503	SO:0001589	frameshift_variant	132299					endosome		g.chr4:48899863delA	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.175delT	4.37:g.48899863delA	ENSP00000423014:p.Ser59fs					OCIAD2_ENST00000273860.4_Frame_Shift_Del_p.S59fs|OCIAD2_ENST00000508069.2_5'UTR	p.S59fs	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN			4	407	-			59			OCIA.		B4DPE7|Q8N544	Frame_Shift_Del	DEL	ENST00000508632.1	37	c.175delT	CCDS33981.1																																																																																				0.368	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		7	450						7	450	---	---	---	---	-	48899863	A	-	48899863	7	5	120	1	0	1	0	1	0	0	0	0	10860	246	9	0	305	0	OCIAD2	4	48899863	Frame_Shift_Del	DEL	A	TCGA-XD-AAUL-01A-21D-A397-08	21880479	48899863	142254413	46	37782											
PAQR3	152559	broad.mit.edu	37	chr4	79847790	79847790	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcctttgccattgctgcGtgaggtaattgggatgaatc	14	7	0	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:79847790G>T	ENST00000512733.1	-	4	800	c.587C>A	c.(586-588)aCg>aAg	p.T196K	PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	196					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						CCATTGCTGCGTGAGGTAATT	0.458																																						ENST00000512733.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(586-588)aCg>aAg		progestin and adipoQ receptor family member III							203	191	195					4																	79847790		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79847790G>T	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.587C>A	4.37:g.79847790G>T	ENSP00000421981:p.Thr196Lys					PAQR3_ENST00000380645.4_Missense_Mutation_p.T196K|PAQR3_ENST00000515541.1_5'UTR|PAQR3_ENST00000295462.3_3'UTR	p.T196K	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN			4	800	-			196					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.587C>A	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200601	0.38905	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.27890	1.64;1.64	5.88	5.88	0.94601	.	0.041428	0.85682	D	0.000000	T	0.29652	0.0740	L	0.42744	1.35	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.11916	-1.0568	10	0.12766	T	0.61	-1.8795	20.2187	0.98312	0.0:0.0:1.0:0.0	.	196	Q6TCH7	PAQR3_HUMAN	K	196	ENSP00000421981:T196K;ENSP00000370019:T196K	ENSP00000344203:T196K	T	-	2	0	PAQR3	80066814	1.000000	0.71417	0.997000	0.53966	0.117000	0.20001	6.142000	0.71750	2.780000	0.95670	0.655000	0.94253	ACG		0.458	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453		92	503	1	0	8.34767e-46	1	9.88216e-46	92	503					T	79847790	G	T	79847790	3	4	120	1	0	0	0	0	1	0	0	0	11478	1145	40	3	360	3	PAQR3	4	79847790	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	30947927	79847790	111306486	47	37783											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-													aggtttaaatccattcacatCagcagcagcagcagcagtct					rs150581210		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:146077123_146077125delCAG	ENST00000447906.2	-	8	840_842	c.653_655delCTG	c.(652-657)gctgat>gat	p.A218del	OTUD4_ENST00000454497.2_In_Frame_Del_p.A153del|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(457-462)gat>g		OTU domain containing 4																																				SO:0001651	inframe_deletion	54726						protein binding	g.chr4:146077123_146077125delCAG		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653_655delCTG	4.37:g.146077132_146077134delCAG	ENSP00000395487:p.Ala218del					OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	p.AD153del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			8	595_597	-	all_hematologic(180;0.151)		218			OTU.		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	In_Frame_Del	DEL	ENST00000447906.2	37	c.458_460delCTG																																																																																					0.34	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		10	315						10	315	---	---	---	---	-	146077125	CAG	-	146077123	7	5	120	1	0	1	0	1	0	0	0	0	11356	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-XD-AAUL-01A-21D-A397-08	66229333	146077123	45077153	48	37784											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	26	0	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				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)				ggggagggggtgggggtaggg	0.522																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1408-1410)ccA>ccC		nuclear assembly factor 1 ribonucleoprotein							10	10	10					4																	164050124		2188	4274	6462	SO:0001819	synonymous_variant	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050124T>G		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.1410A>C	4.37:g.164050124T>G						NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P470P	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1603	-	all_hematologic(180;0.166)	Prostate(90;0.109)	470			Pro-rich.		D3DP28|E9PAZ2	Silent	SNP	ENST00000274054.2	37	c.1410A>C	CCDS3803.1																																																																																				0.522	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		4	56	0	0	0	1	0	4	56					G	164050124	T	G	164050124	2	3	120	1	0	0	0	0	0	0	0	1	10181	1683	59	4		4	NAF1	4	164050124	Silent	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	17973001	164050124	27104152	49	37785											
CDH18	1016	broad.mit.edu	37	chr5	19839078	19839078	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	aggactggacagatgcaagaTgtgctagtaattttcattgt	11	5	1	2	rs148353712		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr5:19839078T>A	ENST00000507958.1	-	5	1008	c.18A>T	c.(16-18)acA>acT	p.T6T	CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000502796.1_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000506372.1_Silent_p.T6T			Q13634	CAD18_HUMAN	cadherin 18, type 2	6					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)					AGATGCAAGATGTGCTAGTAA	0.428																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(16-18)acA>acT		cadherin 18, type 2							146	122	130					5																	19839078		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19839078T>A	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.18A>T	5.37:g.19839078T>A						CDH18_ENST00000502796.1_Silent_p.T6T|CDH18_ENST00000274170.4_Silent_p.T6T|CDH18_ENST00000382275.1_Silent_p.T6T|CDH18_ENST00000511273.1_Silent_p.T6T|CDH18_ENST00000506372.1_Silent_p.T6T	p.T6T			Q13634	CAD18_HUMAN			5	1008	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		6					A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.18A>T	CCDS3889.1																																																																																				0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		43	239	0	0	0	1	0	43	239					A	19839078	T	A	19839078	2	1	120	1	0	0	0	0	0	0	0	1	3112	1451	51	5		5	CDH18	5	19839078	Silent	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08		19839078	161076182	50	37786											
PCDHB7	56129	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	16	13	0	0	rs374392843		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	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.A526A(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)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62	68	66					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	395	1	0	7.03913e-09	1	7.98098e-09	5	395					T	140553994	G	T	140553994	2	4	120	1	0	0	0	0	0	0	0	1	11589	1132	40	3		3	PCDHB7	5	140553994	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	120714916	140553994	40361266	51	37787											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26200004	26200004	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaacgatatcttcgagcGcatcgctggcgaggcttccc	11	14	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:26200004G>A	ENST00000359985.1	+	1	257	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	73					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ATCTTCGAGCGCATCGCTGGC	0.607																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(217-219)cGc>cAc		histone cluster 1, H2bf							160	151	154					6																	26200004		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200004G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"Histones / Replication-dependent"	4752	protein-coding gene	gene with protein product		602804	"H2B histone family, member G", "histone 1, H2bf"	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.218G>A	6.37:g.26200004G>A	ENSP00000353074:p.Arg73His						p.R73H	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	257	+		all_hematologic(11;0.196)	73					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.218G>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.00	2.998290	0.54147	.	.	ENSG00000197846	ENST00000359985	T	0.69561	-0.41	3.89	3.89	0.44902	.	0.000000	0.41938	D	0.000785	T	0.69504	0.3118	.	.	.	0.36868	D	0.88877	.	.	.	.	.	.	T	0.73363	-0.4006	7	0.49607	T	0.09	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	H	73	ENSP00000353074:R73H	ENSP00000353074:R73H	R	+	2	0	HIST1H2BF	26307983	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	7.733000	0.84916	2.102000	0.63906	0.650000	0.86243	CGC		0.607	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		7	797	0	0	0	1	0	7	797					A	26200004	G	A	26200004	3	1	120	1	0	0	0	0	1	0	0	0	7175	1087	38	1	220	1	HIST1H2BF	6	26200004	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		26200004	144915063	52	37788											
SCAND3	114821	broad.mit.edu	37	chr6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttttagactttaatgaccGcaaaaaagttaactttgtac	5	8	0	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	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						TTTAATGACCGCAAAAAAGTT	0.373																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1219-1221)Cgg>Tgg		SCAN domain containing 3							47	50	49					6																	28543263		2200	4300	6500	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543263G>A																												ENST00000452236.2:c.1219C>T	6.37:g.28543263G>A	ENSP00000395259:p.Arg407Trp						p.R407W	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			3	1836	-			407			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1219C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	339	0	0	0	1	0	5	339					A	28543263	G	A	28543263	3	1	120	1	0	0	0	0	1	0	0	0	13926	1086	38	1	2766	1	SCAND3	6	28543263	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	2343259	28543263	142571804	53	37789											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A													attcagcgacagtggcgggcINSaaacccctcccggggcgggg							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			11	598						11	598	---	---	---	---	A	31939830	-	A	31939829	7	5	120	1	0	1	1	0	0	0	0	0	15344	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-XD-AAUL-01A-21D-A397-08	3396566	31939829	139175238	54	37790											
C6orf154	221424	broad.mit.edu	37	chr6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-													cgccagcccctcctgccactTcctcctcctcctctccctca							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						ENST00000372441.1																			0											c.(781-786)gaa>ga		leucine rich repeat containing 73				11,4155		1,9,2073						2.1	1			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 154"	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del						p.EE261del	NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN			5	1683_1685	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974		7	302						7	302	---	---	---	---	-	43475291	TCC	-	43475289	7	5	120	1	0	1	0	1	0	0	0	0	2346	1783	62	0	173	0	C6orf154	6	43475289	In_Frame_Del	DEL	TCC	TCGA-XD-AAUL-01A-21D-A397-08	11535460	43475289	127639778	55	37791											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-													acatagttagagaaaaggccAaaaaaaatacagagttaatt							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58	61	60			0.1	1	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		9	457						9	457	---	---	---	---	-	88144700	A	-	88144700	7	5	120	1	0	1	0	1	0	0	0	0	2348	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-XD-AAUL-01A-21D-A397-08	44669411	88144700	82970367	56	37792											
BVES	11149	broad.mit.edu	37	chr6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcataagtttggcccTttttcaaggtttggatcatg	10	8	2	0	rs369142492		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000336775.5_Missense_Mutation_p.K157R|BVES_ENST00000446408.2_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438																																						ENST00000314641.5																			1	Substitution - Missense(1)	p.K157R(1)	prostate(1)	NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(469-471)aAg>aGg		blood vessel epicardial substance		T	ARG/LYS,ARG/LYS,ARG/LYS	0,4406		0,0,2203	160	160	160		470,470,470	3.3	1	6		160	1,8599		0,1,4299	no	missense,missense,missense	BVES	NM_147147.3,NM_007073.4,NM_001199563.1	26,26,26	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	157/361,157/361,157/361	105573335	1,13005	2203	4300	6503	SO:0001583	missense	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105573335T>C	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.470A>G	6.37:g.105573335T>C	ENSP00000313172:p.Lys157Arg					BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			4	686	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	157					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	ENST00000314641.5	37	c.470A>G	CCDS5051.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540510	0.27563	0.0	1.16E-4	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.31510	1.49;1.49;1.49	5.76	3.34	0.38264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.130282	0.64402	N	0.000002	T	0.07638	0.0192	L	0.31845	0.965	0.39124	D	0.961725	B	0.14438	0.01	B	0.13407	0.009	T	0.12528	-1.0544	10	0.13470	T	0.59	-15.0112	6.8871	0.24208	0.0:0.148:0.1607:0.6914	.	157	Q8NE79	POPD1_HUMAN	R	157	ENSP00000313172:K157R;ENSP00000337259:K157R;ENSP00000397310:K157R	ENSP00000313172:K157R	K	-	2	0	BVES	105680028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.676000	0.46883	1.016000	0.39470	0.533000	0.62120	AAG		0.438	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		7	782	0	0	0	1	0	7	782					C	105573335	T	C	105573335	3	2	120	1	0	0	0	0	1	0	0	0	1579	1609	56	4	632	4	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	17428635	105573335	65541732	57	37793											
SHPRH	257218	broad.mit.edu	37	chr6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-													ttataataataatagtaaggAtcatcatcatcatcagaggt					rs561556028		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					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)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	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.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.36	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		7	440						7	440	---	---	---	---	-	146264836	ATC	-	146264834	7	5	120	1	0	1	0	1	0	0	0	0	14341	330	12	0	3500	0	SHPRH	6	146264834	In_Frame_Del	DEL	ATC	TCGA-XD-AAUL-01A-21D-A397-08	40691499	146264834	24850233	58	37794											
PURB	5814	broad.mit.edu	37	chr7	44924131	44924131	+	Frame_Shift_Del	DEL	A	A	-													catctcatccgcataccggcAaaaggcgcctccgaacttgc							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:44924131delA	ENST00000395699.2	-	1	829	c.817delT	c.(817-819)tgcfs	p.C273fs	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	273					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						GCATACCGGCAAAAGGCGCCT	0.582																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(817-819)gcfs		purine-rich element binding protein B							95	104	101					7																	44924131		2203	4300	6503	SO:0001589	frameshift_variant	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924131delA		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.817delT	7.37:g.44924131delA	ENSP00000379051:p.Cys273fs						p.C273fs	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	829	-			273					A4D2L7	Frame_Shift_Del	DEL	ENST00000395699.2	37	c.817delT	CCDS5499.1																																																																																				0.582	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		8	682						8	682	---	---	---	---	-	44924131	A	-	44924131	7	5	120	1	0	1	0	1	0	0	0	0	12878	130	5	0	125	0	PURB	7	44924131	Frame_Shift_Del	DEL	A	TCGA-XD-AAUL-01A-21D-A397-08		44924131	114214532	59	37795											
CNPY4	245812	broad.mit.edu	37	chr7	99720455	99720455	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctagtgcagaaggggGtgaaggtggatctggggatc	19	5	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:99720455G>C	ENST00000262932.3	+	4	523	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR|TAF6_ENST00000437822.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	131						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)					GCAGAAGGGGGTGAAGGTGGA	0.557																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(391-393)Gtg>Ctg		canopy FGF signaling regulator 4							79	68	72					7																	99720455		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720455G>C	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.391G>C	7.37:g.99720455G>C	ENSP00000262932:p.Val131Leu					CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.V131L	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			4	523	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		131					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.391G>C	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042190	0.93685	.	.	ENSG00000166997	ENST00000262932	T	0.39592	1.07	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.64567	1.98	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.60357	-0.7279	10	0.48119	T	0.1	-23.8167	15.1914	0.73047	0.0:0.0:1.0:0.0	.	131	Q8N129	CNPY4_HUMAN	L	131	ENSP00000262932:V131L	ENSP00000262932:V131L	V	+	1	0	CNPY4	99558391	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.873000	0.87193	2.654000	0.90174	0.561000	0.74099	GTG		0.557	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		12	70	0	0	0	1	0	12	70					C	99720455	G	C	99720455	3	2	120	1	0	0	0	0	1	0	0	0	3639	1261	44	5	405	5	CNPY4	7	99720455	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	54796324	99720455	59418208	60	37796											
SRRT	51593	broad.mit.edu	37	chr7	100484755	100484755	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accccaacgaggacgagatgCccaatcgctgtgggatcatc	11	13	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr7:100484755C>T	ENST00000347433.4	+	15	2067	c.1909C>T	c.(1909-1911)Ccc>Tcc	p.P637S	SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S|SRRT_ENST00000388793.4_Missense_Mutation_p.P636S			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	637					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGACGAGATGCCCAATCGCTG	0.572																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(1906-1908)Ccc>Tcc		serrate RNA effector molecule homolog (Arabidopsis)							151	139	144					7																	100484755		2203	4300	6503	SO:0001583	missense	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100484755C>T		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.1909C>T	7.37:g.100484755C>T	ENSP00000314491:p.Pro637Ser					SRRT_ENST00000432932.1_Missense_Mutation_p.P636S|SRRT_ENST00000347433.4_Missense_Mutation_p.P637S|SRRT_ENST00000457580.2_Missense_Mutation_p.P637S	p.P636S	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			15	2126	+			637					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	ENST00000347433.4	37	c.1906C>T	CCDS34709.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594904	0.86953	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	5.23	5.23	0.72850	Arsenite-resistance protein 2 (1);	0.052808	0.85682	D	0.000000	T	0.80869	0.4706	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.998;0.998;0.999	D	0.83939	0.0310	9	0.87932	D	0	.	16.2709	0.82618	0.0:1.0:0.0:0.0	.	636;636;637;637	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	S	637;636;2;636;637;267	.	ENSP00000344670:P2S	P	+	1	0	SRRT	100322691	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.200000	0.77838	2.424000	0.82194	0.462000	0.41574	CCC		0.572	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		7	1084	0	0	0	1	0	7	1084					T	100484755	C	T	100484755	3	4	120	1	0	0	0	0	1	0	0	0	15224	739	26	2	1963	2	SRRT	7	100484755	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	764300	100484755	58653908	61	37797											
CSMD1	64478	broad.mit.edu	37	chr8	3047451	3047451	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacccacacagctggggatcGtgtcgttccactgtgccaag	11	14	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr8:3047451G>A	ENST00000520002.1	-	35	5939	c.5384C>T	c.(5383-5385)aCg>aTg	p.T1795M	CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1795	Sushi 10. {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)		GCTGGGGATCGTGTCGTTCCA	0.592																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(5383-5385)aCg>aTg		CUB and Sushi multiple domains 1							35	39	38					8																	3047451		2014	4165	6179	SO:0001583	missense	64478					integral to membrane		g.chr8:3047451G>A			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.5384C>T	8.37:g.3047451G>A	ENSP00000430733:p.Thr1795Met					CSMD1_ENST00000542608.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1794M|CSMD1_ENST00000602723.1_Missense_Mutation_p.T1795M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1795M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1795M	p.T1795M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	35	5939	-		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)	1795			Sushi 10.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5384C>T		.	.	.	.	.	.	.	.	.	.	G	16.07	3.018426	0.54576	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.34	5.34	0.76211	Complement control module (2);Sushi/SCR/CCP (3);	0.064322	0.64402	D	0.000010	T	0.77618	0.4157	M	0.67397	2.05	0.58432	D	0.999994	D;P;D	0.76494	0.998;0.951;0.999	P;D;D	0.66497	0.885;0.932;0.944	T	0.77877	-0.2424	10	0.52906	T	0.07	.	19.4214	0.94723	0.0:0.0:1.0:0.0	.	1795;1795;1795	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	M	1795;1795;1657;1794;1794;1794	ENSP00000383047:T1795M;ENSP00000430733:T1795M;ENSP00000441462:T1794M;ENSP00000446243:T1794M;ENSP00000441675:T1794M	ENSP00000320445:T1657M	T	-	2	0	CSMD1	3034858	1.000000	0.71417	0.951000	0.38953	0.166000	0.22503	7.369000	0.79578	2.653000	0.90120	0.544000	0.68410	ACG		0.592	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	49	0	0	0	1	0	3	49					A	3047451	G	A	3047451	3	1	120	1	0	0	0	0	1	0	0	0	3955	1145	40	1	5461	1	CSMD1	8	3047451	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		3047451	143316571	62	37798											
MYST3	7994	broad.mit.edu	37	chr8	41790659	41790659	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctggggagggggTgggggtggaggctgctgggg	27	5	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16	18	18					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	97	0	0	0	1	0	11	97					G	41790659	T	G	41790659	2	3	120	1	0	0	0	0	0	0	0	1	10145	1683	59	4		4	MYST3	8	41790659	Silent	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	38743208	41790659	104573363	63	37799											
VPS13A	23230	broad.mit.edu	37	chr9	80020889	80020889	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttgttcatgggagaagattgCgcattgaagcaaaggtatgt	13	4	1	3	rs547927864		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:80020889C>T	ENST00000360280.3	+	70	9645	c.9385C>T	c.(9385-9387)Cgc>Tgc	p.R3129C	VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3129					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						GAGAAGATTGCGCATTGAAGC	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17884	0.0		0.0	False		,,,				2504	0.0					ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(9385-9387)Cgc>Tgc		vacuolar protein sorting 13 homolog A (S. cerevisiae)							187	178	181					9																	80020889		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:80020889C>T	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.9385C>T	9.37:g.80020889C>T	ENSP00000353422:p.Arg3129Cys					VPS13A_ENST00000376646.3_Missense_Mutation_p.R65C|VPS13A_ENST00000484581.2_Missense_Mutation_p.R65C|VPS13A_ENST00000376636.3_Missense_Mutation_p.R3090C	p.R3129C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			70	9645	+			3129					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.9385C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109496	0.77096	.	.	ENSG00000197969	ENST00000376636;ENST00000360280;ENST00000484581;ENST00000376646	T;T;T;T	0.72505	0.79;0.88;-0.66;-0.66	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.94;0.993	T	0.78301	-0.2257	9	.	.	.	.	19.9276	0.97108	0.0:1.0:0.0:0.0	.	3090;3129	Q96RL7-3;Q96RL7	.;VP13A_HUMAN	C	3090;3129;65;65	ENSP00000365823:R3090C;ENSP00000353422:R3129C;ENSP00000446020:R65C;ENSP00000365834:R65C	.	R	+	1	0	VPS13A	79210709	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	7.294000	0.78760	2.801000	0.96364	0.650000	0.86243	CGC		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		6	438	0	0	0	1	0	6	438					T	80020889	C	T	80020889	3	4	120	1	0	0	0	0	1	0	0	0	17243	768	27	1	9791	1	VPS13A	9	80020889	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		80020889	61192542	64	37800											
MUSK	4593	broad.mit.edu	37	chr9	113431242	113431242	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttactctggttgccttcagcGgaactgagaaacttccaaaa	8	10	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:113431242G>A	ENST00000374448.4	+	1	192	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MUSK_ENST00000416899.2_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R|MUSK_ENST00000374440.3_5'UTR	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	20					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGCCTTCAGCGGAACTGAGAA	0.438																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(58-60)Gga>Aga		muscle, skeletal, receptor tyrosine kinase							330	317	321					9																	113431242		1901	4123	6024	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113431242G>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.58G>A	9.37:g.113431242G>A	ENSP00000363571:p.Gly20Arg					MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.G20R|MUSK_ENST00000189978.5_Missense_Mutation_p.G20R	p.G20R			O15146	MUSK_HUMAN			1	184	+			20					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.58G>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497875	0.44455	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73469	-0.75	5.18	3.3	0.37823	.	0.381500	0.22739	N	0.056228	T	0.58452	0.2123	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.965;0.994	B;P	0.50314	0.387;0.637	T	0.56523	-0.7965	10	0.13470	T	0.59	.	2.5396	0.04722	0.0967:0.1995:0.4509:0.2529	.	20;20	O15146;F5H6T2	MUSK_HUMAN;.	R	20	ENSP00000363571:G20R	ENSP00000189978:G20R	G	+	1	0	MUSK	112471063	0.957000	0.32711	1.000000	0.80357	0.773000	0.43773	0.060000	0.14342	1.205000	0.43262	-0.252000	0.11476	GGA		0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				6	677	0	0	0	1	0	6	677					A	113431242	G	A	113431242	3	1	120	1	0	0	0	0	1	0	0	0	10030	1117	39	1	60	1	MUSK	9	113431242	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	33410353	113431242	27782189	65	37801											
DBC1	1620	broad.mit.edu	37	chr9	121929760	121929760	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccctggccagtctcatttcGcagtagggtaggtagccgag	14	11	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr9:121929760G>A	ENST00000265922.3	-	8	2349	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	630					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)											GTCTCATTTCGCAGTAGGGTA	0.537																																						ENST00000265922.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1888-1890)Cga>Tga									138	133	135					9																	121929760		2203	4300	6503	SO:0001587	stop_gained	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929760G>A	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.1888C>T	9.37:g.121929760G>A	ENSP00000265922:p.Arg630*					DBC1_ENST00000482797.1_Intron	p.R630*	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2349	-			630					Q6IPV6|Q6P1A0|Q8WU22	Nonsense_Mutation	SNP	ENST00000265922.3	37	c.1888C>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	40	8.207716	0.98706	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	.	.	.	5.09	4.12	0.48240	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-10.6226	14.6366	0.68694	0.0:0.0:0.8539:0.1461	.	.	.	.	X	630	.	ENSP00000265922:R630X	R	-	1	2	DBC1	120969581	1.000000	0.71417	0.953000	0.39169	0.850000	0.48378	4.600000	0.61083	2.540000	0.85666	0.655000	0.94253	CGA		0.537	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		135	485	0	0	0	1	0	135	485					A	121929760	G	A	121929760	4	1	120	1	0	0	0	0	0	1	0	0	4258	1095	38	1	401	1	DBC1	9	121929760	Nonsense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	8498518	121929760	19283671	66	37802											
C10orf18	54906	broad.mit.edu	37	chr10	5791188	5791188	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctctataacaaaagaactcaAagataccatgagaacttcac	4	10	3	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:5791188A>G	ENST00000328090.5	+	15	6429	c.5804A>G	c.(5803-5805)aAa>aGa	p.K1935R		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1935																	AAAGAACTCAAAGATACCATG	0.517																																						ENST00000328090.5																			0											c.(5803-5805)aAa>aGa		family with sequence similarity 208, member B							39	40	40					10																	5791188		2020	4169	6189	SO:0001583	missense	54906							g.chr10:5791188A>G	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.5804A>G	10.37:g.5791188A>G	ENSP00000328426:p.Lys1935Arg						p.K1935R	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	6429	+			1935					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.5804A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	7.769	0.707055	0.15239	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.06218	3.33	5.82	0.813	0.18749	.	0.665083	0.15027	N	0.284666	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.43766	-0.9371	10	0.28530	T	0.3	.	5.0489	0.14497	0.6201:0.1435:0.2365:0.0	.	1935	Q5VWN6	F208B_HUMAN	R	1935;1130	ENSP00000328426:K1935R	ENSP00000328426:K1935R	K	+	2	0	C10orf18	5831194	0.085000	0.21516	0.001000	0.08648	0.032000	0.12392	0.318000	0.19504	-0.098000	0.12285	0.460000	0.39030	AAA		0.517	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		24	181	0	0	0	1	0	24	181					G	5791188	A	G	5791188	3	3	120	1	0	0	0	0	1	0	0	0	1601	14	1	4	5850	4	C10orf18	10	5791188	Missense_Mutation	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08		5791188	129743559	67	37803											
SFMBT2	57713	broad.mit.edu	37	chr10	7212995	7212997	+	In_Frame_Del	DEL	CTC	CTC	-													ttgctctccagaaccagtctCtcctcctcctcctgtttcgt							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:7212995_7212997delCTC	ENST00000361972.4	-	20	2527_2529	c.2437_2439delGAG	c.(2437-2439)gagdel	p.E813del	SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	813					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						GAACCAGTCTCTCCTCCTCCTCC	0.596																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2437-2439)del		Scm-like with four mbt domains 2																																				SO:0001651	inframe_deletion	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7212995_7212997delCTC	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.2437_2439delGAG	10.37:g.7213004_7213006delCTC	ENSP00000355109:p.Glu813del					SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			20	2527_2529	-			813					A7MD09|Q9HCF5	In_Frame_Del	DEL	ENST00000361972.4	37	c.2437_2439delGAG	CCDS31138.1																																																																																				0.596	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	655						7	655	---	---	---	---	-	7212997	CTC	-	7212995	7	5	120	1	0	1	0	1	0	0	0	0	14208	912	32	0	253	0	SFMBT2	10	7212995	In_Frame_Del	DEL	CTC	TCGA-XD-AAUL-01A-21D-A397-08	1421807	7212995	128321752	68	37804											
RTKN2	219790	broad.mit.edu	37	chr10	63958149	63958149	+	Frame_Shift_Del	DEL	T	T	-													ctgcccatttgtctcttcaaTttttttttgtattatatccg							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:63958149delT	ENST00000373789.3	-	12	1444	c.1348delA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		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)					GTCTCTTCAATTTTTTTTTGT	0.333																																						ENST00000373789.3																			1	Deletion - Frameshift(1)	p.I450fs*67(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1348-1350)ttfs		rhotekin 2							60	64	63					10																	63958149		2202	4299	6501	SO:0001589	frameshift_variant	219790				signal transduction	intracellular		g.chr10:63958149delT	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.1348delA	10.37:g.63958149delT	ENSP00000362894:p.Ile450fs					RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs|RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs	p.I450fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1444	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		450					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Del	DEL	ENST00000373789.3	37	c.1348delA	CCDS7263.1																																																																																				0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		9	297						9	297	---	---	---	---	-	63958149	T	-	63958149	7	5	120	1	0	1	0	1	0	0	0	0	13773	1493	52	0	485	0	RTKN2	10	63958149	Frame_Shift_Del	DEL	T	TCGA-XD-AAUL-01A-21D-A397-08	56745154	63958149	71576598	69	37805											
PLCE1	51196	broad.mit.edu	37	chr10	96018889	96018889	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	caattgatgaaaacaccagcGatcttcagcctgacctaggt	8	11	2	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:96018889G>A	ENST00000371380.3	+	12	4031	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N|PLCE1_ENST00000260766.3_Missense_Mutation_p.D1266N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1266					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)				AAACACCAGCGATCTTCAGCC	0.468																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3796-3798)Gat>Aat		phospholipase C, epsilon 1							170	166	167					10																	96018889		1988	4164	6152	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96018889G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3796G>A	10.37:g.96018889G>A	ENSP00000360431:p.Asp1266Asn					PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371380.2_Missense_Mutation_p.D1266N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N	p.D1266N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			13	4430	+		Colorectal(252;0.0458)	1266					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3796G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114130	0.56398	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.91	4.07	0.47477	.	0.307693	0.34725	N	0.003735	T	0.14874	0.0359	N	0.19112	0.55	0.36609	D	0.875091	P;P;B	0.40931	0.614;0.733;0.103	B;B;B	0.36766	0.08;0.232;0.032	T	0.13388	-1.0511	10	0.17369	T	0.5	.	12.3034	0.54887	0.1361:0.0:0.8639:0.0	.	1250;958;1266	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1266;1266;958;958	ENSP00000260766:D1266N;ENSP00000360431:D1266N;ENSP00000360438:D958N;ENSP00000360426:D958N	ENSP00000260766:D1266N	D	+	1	0	PLCE1	96008879	1.000000	0.71417	0.016000	0.15963	0.889000	0.51656	6.412000	0.73303	0.843000	0.35070	0.555000	0.69702	GAT		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		85	468	0	0	0	1	0	85	468					A	96018889	G	A	96018889	3	1	120	1	0	0	0	0	1	0	0	0	12076	1058	37	1	4128	1	PLCE1	10	96018889	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	32060740	96018889	39515858	70	37806											
ADAM12	8038	broad.mit.edu	37	chr10	127755358	127755358	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaggtggtggcattgcaGcagcgattcatacattcctg	12	9	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:127755358G>A	ENST00000368679.4	-	13	1659	c.1350C>T	c.(1348-1350)tgC>tgT	p.C450C	ADAM12_ENST00000368676.4_Silent_p.C450C|ADAM12_ENST00000467145.1_5'UTR	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	450	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCATTGCAGCAGCGATTCA	0.522																																						ENST00000368679.4																			0				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						c.(1348-1350)tgC>tgT		ADAM metallopeptidase domain 12							101	86	91					10																	127755358		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127755358G>A	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.1350C>T	10.37:g.127755358G>A						ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.C450C	p.C450C	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	13	1659	-		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)	450			Disintegrin.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.1350C>T	CCDS7653.1																																																																																				0.522	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			5	201	0	0	0	1	0	5	201					A	127755358	G	A	127755358	2	1	120	1	0	0	0	0	0	0	0	1	236	963	34	2		2	ADAM12	10	127755358	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	31736469	127755358	7779389	71	37807											
DOCK1	1793	broad.mit.edu	37	chr10	129213435	129213435	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaatatgtggatcgagagaaCcatatatacaactgcatata	8	6	0	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:129213435C>T	ENST00000280333.6	+	44	4494	c.4385C>T	c.(4384-4386)aCc>aTc	p.T1462I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1462	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)		ATCGAGAGAACCATATATACA	0.448																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(4384-4386)aCc>aTc		dedicator of cytokinesis 1							105	111	109					10																	129213435		1992	4192	6184	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129213435C>T	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.4385C>T	10.37:g.129213435C>T	ENSP00000280333:p.Thr1462Ile						p.T1462I	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	44	4494	+		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)	1462			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4385C>T		.	.	.	.	.	.	.	.	.	.	C	19.47	3.833993	0.71373	.	.	ENSG00000150760	ENST00000280333	T	0.23348	1.91	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.61652	0.2364	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.98;0.988;0.997	T	0.71318	-0.4629	10	0.87932	D	0	.	18.6123	0.91290	0.0:1.0:0.0:0.0	.	1462;1528;1462	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	I	1462	ENSP00000280333:T1462I	ENSP00000280333:T1462I	T	+	2	0	DOCK1	129103425	1.000000	0.71417	0.336000	0.25522	0.625000	0.37756	7.604000	0.82830	2.634000	0.89283	0.650000	0.86243	ACC		0.448	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		19	136	0	0	0	1	0	19	136					T	129213435	C	T	129213435	3	4	120	1	0	0	0	0	1	0	0	0	4700	507	18	2	4559	2	DOCK1	10	129213435	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	1458077	129213435	6321312	72	37808											
LRRC27	80313	broad.mit.edu	37	chr10	134165170	134165170	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcaccgtaccaaatggCgatccgagcaaaaagactgg	10	11	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr10:134165170C>T	ENST00000368614.3	+	7	1091	c.986C>T	c.(985-987)gCg>gTg	p.A329V	LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000392638.2_Nonsense_Mutation_p.R361*|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	329										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)		TACCAAATGGCGATCCGAGCA	0.522																																						ENST00000392638.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1081-1083)Cga>Tga		leucine rich repeat containing 27							125	136	132					10																	134165170		2203	4300	6503	SO:0001583	missense	80313							g.chr10:134165170C>T	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.986C>T	10.37:g.134165170C>T	ENSP00000357603:p.Ala329Val					LRRC27_ENST00000368613.4_Missense_Mutation_p.A329V|LRRC27_ENST00000368615.3_Missense_Mutation_p.A329V|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.A267V|LRRC27_ENST00000368610.3_Missense_Mutation_p.A267V|LRRC27_ENST00000432555.2_Missense_Mutation_p.A202V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.R361*|LRRC27_ENST00000368614.3_Missense_Mutation_p.A329V	p.R361*			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1276	+		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)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Nonsense_Mutation	SNP	ENST00000368614.3	37	c.1081C>T	CCDS31316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.464280|4.464280	0.84425|0.84425	.|.	.|.	ENSG00000148814|ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555|ENST00000392638;ENST00000344079	T;T;T;T;T;T|.	0.42513|.	2.69;2.59;2.59;4.35;4.35;0.97|.	4.25|4.25	-8.49|-8.49	0.00931|0.00931	.|.	4.873430|.	0.00508|.	N|.	0.000163|.	T|.	0.09423|.	0.0232|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.28470|.	0.048;0.093;0.213;0.136|.	B;B;B;B|.	0.25405|.	0.024;0.044;0.06;0.016|.	T|.	0.10451|.	-1.0629|.	9|.	0.05436|0.02654	T|T	0.98|1	-0.0569|-0.0569	3.4252|3.4252	0.07408|0.07408	0.1986:0.4722:0.1832:0.146|0.1986:0.4722:0.1832:0.146	.|.	329;202;267;329|.	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9|.	.;.;.;LRC27_HUMAN|.	V|X	329;329;329;267;267;202|361	ENSP00000357604:A329V;ENSP00000357603:A329V;ENSP00000357602:A329V;ENSP00000357601:A267V;ENSP00000357599:A267V;ENSP00000407949:A202V|.	ENSP00000357599:A267V|ENSP00000342641:R361X	A|R	+|+	2|1	0|2	LRRC27|LRRC27	134015160|134015160	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-3.914000|-3.914000	0.00335|0.00335	-3.621000|-3.621000	0.00131|0.00131	-1.080000|-1.080000	0.02220|0.02220	GCG|CGA		0.522	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		6	923	0	0	0	1	0	6	923					T	134165170	C	T	134165170	3	4	120	1	0	0	0	0	1	0	0	0	9019	769	27	1	1107	1	LRRC27	10	134165170	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	4951735	134165170	1369577	73	37809											
CTSD	1509	broad.mit.edu	37	chr11	1776217	1776217	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtaatacttggagtctgtgCcacccagcatcagctcaccc	8	14	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:1776217C>T	ENST00000236671.2	-	6	878	c.746G>A	c.(745-747)gGc>gAc	p.G249D	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A120T	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	249					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)"	GGAGTCTGTGCCACCCAGCAT	0.602																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(745-747)gGc>gAc		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						116	103	107					11																	1776217		2202	4299	6501	SO:0001583	missense	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1776217C>T	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.746G>A	11.37:g.1776217C>T	ENSP00000236671:p.Gly249Asp					RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A120T	p.G249D	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	6	878	-		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)	249					Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	c.746G>A	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.25|17.25	3.342878|3.342878	0.61073|0.61073	.|.	.|.	ENSG00000250644|ENSG00000117984	ENST00000427721|ENST00000236671;ENST00000438213	.|T;T	.|0.66099	.|-0.19;-0.06	4.25|4.25	4.25|4.25	0.50352|0.50352	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82641|0.82641	0.5081|0.5081	M|M	0.93328|0.93328	3.405|3.405	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.61477	.|0.889	D|D	0.88140|0.88140	0.2844|0.2844	5|10	.|0.72032	.|D	.|0.01	.|.	17.2115|17.2115	0.86931|0.86931	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|249	.|P07339	.|CATD_HUMAN	T|D	120|249;234	.|ENSP00000236671:G249D;ENSP00000415036:G234D	.|ENSP00000236671:G249D	A|G	-|-	1|2	0|0	RP11-295K3.1|CTSD	1732793|1732793	1.000000|1.000000	0.71417|0.71417	0.109000|0.109000	0.21407|0.21407	0.053000|0.053000	0.15095|0.15095	6.912000|6.912000	0.75753|0.75753	2.373000|2.373000	0.80994|0.80994	0.455000|0.455000	0.32223|0.32223	GCA|GGC		0.602	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		5	424	0	0	0	1	0	5	424					T	1776217	C	T	1776217	3	4	120	1	0	0	0	0	1	0	0	0	4043	739	26	2	508	2	CTSD	11	1776217	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		1776217	133230299	74	37810											
CPT1A	1374	broad.mit.edu	37	chr11	68562300	68562300	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcccggtccagtttgCgcctgtaaagcaggatggca	11	12	0	0	rs144866081		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:68562300C>T	ENST00000265641.5	-	8	1005	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H|CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H|CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	284					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCCAGTTTGCGCCTGTAAAG	0.433																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(850-852)cGc>cAc		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)	C	HIS/ARG,HIS/ARG	0,4400		0,0,2200	130	126	127		851,851	0	0	11	dbSNP_134	127	2,8586	2.2+/-6.3	0,2,4292	yes	missense,missense	CPT1A	NM_001031847.2,NM_001876.3	29,29	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	284/757,284/774	68562300	2,12986	2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68562300C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.851G>A	11.37:g.68562300C>T	ENSP00000265641:p.Arg284His					CPT1A_ENST00000539743.1_Missense_Mutation_p.R284H|CPT1A_ENST00000376618.2_Missense_Mutation_p.R284H|CPT1A_ENST00000540367.1_Missense_Mutation_p.R284H|CPT1A_ENST00000538994.1_Missense_Mutation_p.R36H	p.R284H	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		8	1005	-	Esophageal squamous(3;3.28e-14)		284					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.851G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089129	0.20390	0.0	2.33E-4	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.15	0.0249	0.14143	.	0.225561	0.41500	N	0.000876	D	0.84361	0.5455	L	0.60067	1.865	0.52501	D	0.999954	B;B;B	0.28933	0.03;0.037;0.228	B;B;B	0.28638	0.052;0.052;0.092	T	0.77983	-0.2382	10	0.44086	T	0.13	.	10.8556	0.46798	0.0:0.6036:0.0:0.3964	.	284;284;284	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	H	284	ENSP00000439084:R284H;ENSP00000365803:R284H;ENSP00000265641:R284H;ENSP00000446108:R284H	ENSP00000265641:R284H	R	-	2	0	CPT1A	68318876	0.244000	0.23889	0.012000	0.15200	0.140000	0.21249	0.769000	0.26604	0.201000	0.20466	0.655000	0.94253	CGC		0.433	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		6	400	0	0	0	1	0	6	400					T	68562300	C	T	68562300	3	4	120	1	0	0	0	0	1	0	0	0	3840	768	27	1	1558	1	CPT1A	11	68562300	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	66786083	68562300	66444216	75	37811											
ARHGEF17	9828	broad.mit.edu	37	chr11	73067381	73067381	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggagatagaggctcacatCgagggcatggaggatgtgcg	17	7	1	2	rs113094822	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr11:73067381C>T	ENST00000263674.3	+	6	4175	c.3825C>T	c.(3823-3825)atC>atT	p.I1275I	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1275					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						AGGCTCACATCGAGGGCATGG	0.647																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(3823-3825)atC>atT		Rho guanine nucleotide exchange factor (GEF) 17							70	48	55					11																	73067381		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73067381C>T	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.3825C>T	11.37:g.73067381C>T							p.I1275I	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			6	4175	+			1275					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.3825C>T	CCDS8221.1																																																																																				0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		20	99	0	0	0	1	0	20	99					T	73067381	C	T	73067381	2	4	120	1	0	0	0	0	0	0	0	1	900	874	31	1		1	ARHGEF17	11	73067381	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	4505081	73067381	61939135	76	37812											
CHD4	1108	broad.mit.edu	37	chr12	6715504	6715504	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcctcactgcccgcCgagcagggggacggggagcc	14	17	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:6715504C>A	ENST00000357008.2	-	2	199	c.36G>T	c.(34-36)tcG>tcT	p.S12S	CHD4_ENST00000544040.1_Silent_p.S12S|CHD4_ENST00000544484.1_Silent_p.S12S|CHD4_ENST00000309577.6_Silent_p.S12S	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	12					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CACTGCCCGCCGAGCAGGGGG	0.672																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(34-36)tcG>tcT		chromodomain helicase DNA binding protein 4							48	46	47					12																	6715504		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6715504C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.36G>T	12.37:g.6715504C>A						CHD4_ENST00000544484.1_Silent_p.S12S|CHD4_ENST00000357008.2_Silent_p.S12S|CHD4_ENST00000544040.1_Silent_p.S12S	p.S12S			Q14839	CHD4_HUMAN			2	199	-			12					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.36G>T	CCDS8552.1																																																																																				0.672	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		4	246	1	0	0.217242	1	0.222777	4	246					A	6715504	C	A	6715504	2	1	120	1	0	0	0	0	0	0	0	1	3336	639	23	3		3	CHD4	12	6715504	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		6715504	127136391	77	37813											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		34	271	0	0	0	1	0	34	271					G	25398285	C	G	25398285	3	3	120	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	18682781	25398285	108453610	78	37814											
MLL2	8085	broad.mit.edu	37	chr12	49426114	49426114	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ggggcacagatgaggcctcaGaagatgatccactgcctagc	13	11	1	5			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:49426114G>A	ENST00000301067.7	-	39	12373	c.12374C>T	c.(12373-12375)tCt>tTt	p.S4125F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4125	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)										TGAGGCCTCAGAAGATGATCC	0.607																																						ENST00000301067.7																			0											c.(12373-12375)tCt>tTt		lysine (K)-specific methyltransferase 2D							36	35	35					12																	49426114		2082	4229	6311	SO:0001583	missense	8085							g.chr12:49426114G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12374C>T	12.37:g.49426114G>A	ENSP00000301067:p.Ser4125Phe						p.S4125F	NM_003482.3	NP_003473.3					39	12373	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.12374C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	7.586	0.669733	0.14776	.	.	ENSG00000167548	ENST00000301067	T	0.80033	-1.33	4.0	4.0	0.46444	.	0.000000	0.37530	N	0.002050	T	0.73377	0.3579	N	0.08118	0	0.33818	D	0.628734	D	0.56968	0.978	P	0.54664	0.758	T	0.82460	-0.0446	10	0.87932	D	0	.	12.3368	0.55071	0.0:0.0:1.0:0.0	.	4125	O14686	MLL2_HUMAN	F	4125	ENSP00000301067:S4125F	ENSP00000301067:S4125F	S	-	2	0	MLL2	47712381	0.466000	0.25823	0.989000	0.46669	0.685000	0.39939	3.800000	0.55537	2.178000	0.69098	0.561000	0.74099	TCT		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	114	0	0	0	1	0	22	114					A	49426114	G	A	49426114	3	1	120	1	0	0	0	0	1	0	0	0	9662	942	33	2	4303	2	MLL2	12	49426114	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	24027829	49426114	84425781	79	37815											
ACCN2	41	broad.mit.edu	37	chr12	50471790	50471790	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcccctagacgagacGtccttcgaagcaggcatcaa	8	14	2	2	rs149521223	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:50471790G>A	ENST00000447966.2	+	5	946	c.717G>A	c.(715-717)acG>acA	p.T239T	ASIC1_ENST00000228468.4_Silent_p.T239T|ASIC1_ENST00000552438.1_Silent_p.T273T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	239					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)	TAGACGAGACGTCCTTCGAAG	0.567																																						ENST00000228468.4																			0											c.(715-717)acG>acA		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)	G	,	0,4406		0,0,2203	160	129	139		717,717	-1.4	1	12	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ACCN2	NM_001095.2,NM_020039.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	239/529,239/575	50471790	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50471790G>A	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.717G>A	12.37:g.50471790G>A						ASIC1_ENST00000447966.2_Silent_p.T239T|ASIC1_ENST00000552438.1_Silent_p.T273T	p.T239T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			5	1102	+			239					A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	c.717G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	9.192	1.026162	0.19512	0.0	2.33E-4	ENSG00000110881	ENST00000453327	.	.	.	4.18	-1.42	0.08913	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	-10.8698	1.7327	0.02935	0.3697:0.3152:0.1972:0.1179	.	.	.	.	H	107	.	.	R	+	2	0	ACCN2	48758057	0.130000	0.22417	0.997000	0.53966	0.966000	0.64601	-0.452000	0.06787	-0.083000	0.12618	-0.300000	0.09419	CGT		0.567	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		29	443	0	0	0	1	0	29	443					A	50471790	G	A	50471790	2	1	120	1	0	0	0	0	0	0	0	1	129	1132	40	1		1	ACCN2	12	50471790	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	1045676	50471790	83380105	80	37816											
KRT76	51350	broad.mit.edu	37	chr12	53165942	53165942	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caatctcctcatactgggcgCggacctcggcaatgatgctg	11	13	2	1	rs61730598	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:53165942C>T	ENST00000332411.2	-	5	1126	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	358	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R358H(1)		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						ATACTGGGCGCGGACCTCGGC	0.587													C|||	5	0.000998403	0.0038	0.0	5008	,	,		20630	0.0		0.0	False		,,,				2504	0.0					ENST00000332411.2																			1	Substitution - Missense(1)	p.R358H(1)	endometrium(1)	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						c.(1072-1074)cGc>cAc		keratin 76		C	HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	89	77	81		1073	-2.3	0	12	dbSNP_129	81	0,8600	1.2+/-3.3	0,0,4300	no	missense	KRT76	NM_015848.4	29	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	probably-damaging	358/639	53165942	13,12993	2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53165942C>T	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.1073G>A	12.37:g.53165942C>T	ENSP00000330101:p.Arg358His						p.R358H	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			5	1126	-			358			Coil 2.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.1073G>A	CCDS8838.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.82	2.053838	0.36277	0.002951	0.0	ENSG00000185069	ENST00000332411	D	0.93307	-3.2	4.42	-2.3	0.06785	Filament (1);	0.734040	0.11408	N	0.567073	D	0.96494	0.8856	M	0.90814	3.15	0.09310	N	1	D	0.76494	0.999	D	0.75020	0.985	D	0.91683	0.5360	10	0.87932	D	0	.	11.445	0.50118	0.0:0.3928:0.0:0.6072	.	358	Q01546	K22O_HUMAN	H	358	ENSP00000330101:R358H	ENSP00000330101:R358H	R	-	2	0	KRT76	51452209	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	0.434000	0.21494	-0.489000	0.06716	0.462000	0.41574	CGC		0.587	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		4	177	0	0	0	1	0	4	177					T	53165942	C	T	53165942	3	4	120	1	0	0	0	0	1	0	0	0	8519	768	27	1	863	1	KRT76	12	53165942	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	2694152	53165942	80685953	81	37817											
TRPV4	59341	broad.mit.edu	37	chr12	110234507	110234507	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cgccggatgatgtgctgaaaGatctgcacagggggccagga	16	9	1	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110234507G>T	ENST00000418703.2	-	6	1249	c.1155C>A	c.(1153-1155)atC>atA	p.I385I	TRPV4_ENST00000536838.1_Silent_p.I351I|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000261740.2_Silent_p.I385I|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000537083.1_Intron	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	385				I -> V (in Ref. 1; AAG28029). {ECO:0000305}.	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						TGTGCTGAAAGATCTGCACAG	0.612																																						ENST00000418703.2																			0				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						c.(1153-1155)atC>atA		transient receptor potential cation channel, subfamily V, member 4							61	56	58					12																	110234507		2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110234507G>T	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.1155C>A	12.37:g.110234507G>T						TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Silent_p.I338I|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000392719.2_Silent_p.I338I|TRPV4_ENST00000261740.2_Silent_p.I385I|TRPV4_ENST00000536838.1_Silent_p.I351I	p.I385I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			6	1249	-			385	I -> V (in Ref. 1; AAG28029).				B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1155C>A	CCDS9134.1																																																																																				0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		11	262	1	0	1.58986e-06	1	1.72951e-06	11	262					T	110234507	G	T	110234507	2	4	120	1	0	0	0	0	0	0	0	1	16651	932	33	3		3	TRPV4	12	110234507	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	57068565	110234507	23617388	82	37818											
ATP2A2	488	broad.mit.edu	37	chr12	110783101	110783101	+	Silent	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	aacccggactttgaaggcgtGgattgtgcaatctttgaatc	11	8	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:110783101G>C	ENST00000539276.2	+	18	2764	c.2655G>C	c.(2653-2655)gtG>gtC	p.V885V	ATP2A2_ENST00000395494.2_Silent_p.V858V|ATP2A2_ENST00000308664.6_Silent_p.V885V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	885					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						TTGAAGGCGTGGATTGTGCAA	0.443																																						ENST00000395494.2																			0				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						c.(2572-2574)gtG>gtC		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							194	176	182					12																	110783101		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783101G>C		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.2655G>C	12.37:g.110783101G>C						ATP2A2_ENST00000539276.2_Silent_p.V885V|ATP2A2_ENST00000308664.6_Silent_p.V885V	p.V858V			P16615	AT2A2_HUMAN			17	3137	+			885					A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.2574G>C	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	9.975	1.226552	0.22542	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.49	2.35	0.29111	.	.	.	.	.	T	0.46502	0.1396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31724	-0.9933	4	.	.	.	.	3.8067	0.08780	0.1464:0.1051:0.5553:0.1932	.	.	.	.	R	776	.	.	G	+	1	0	ATP2A2	109267484	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	0.226000	0.17776	0.730000	0.32425	-0.345000	0.07892	GGA		0.443	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		6	680	0	0	0	1	0	6	680					C	110783101	G	C	110783101	2	2	120	1	0	0	0	0	0	0	0	1	1138	1335	47	5		5	ATP2A2	12	110783101	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	548594	110783101	23068794	83	37819											
SDS	10993	broad.mit.edu	37	chr12	113831803	113831803	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgagcccccacagtcttcacGcccagggccttggcaacact	9	17	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:113831803G>A	ENST00000257549.4	-	7	794	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	224					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CAGTCTTCACGCCCAGGGCCT	0.577																																						ENST00000257549.4																			0				large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11						c.(670-672)ggC>ggT		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						46	46	46					12																	113831803		2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113831803G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.672C>T	12.37:g.113831803G>A							p.G224G	NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN			7	794	-			224					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.672C>T	CCDS9169.1																																																																																				0.577	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		37	170	0	0	0	1	0	37	170					A	113831803	G	A	113831803	2	1	120	1	0	0	0	0	0	0	0	1	14025	1074	38	1		1	SDS	12	113831803	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	3048702	113831803	20020092	84	37820											
RNF34	80196	broad.mit.edu	37	chr12	121855430	121855430	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcgccctcagttaatgCgactgaaggtgaaggacctg	12	10	2	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr12:121855430C>T	ENST00000392464.2	+	3	418	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000361234.5_Nonsense_Mutation_p.R117*|RNF34_ENST00000555076.1_Intron					ring finger protein 34, E3 ubiquitin protein ligase									p.R118*(1)		breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TCAGTTAATGCGACTGAAGGT	0.428																																						ENST00000361234.5																			1	Substitution - Nonsense(1)	p.R118*(1)	prostate(1)	breast(1)|large_intestine(1)	2						c.(349-351)Cga>Tga		ring finger protein 34, E3 ubiquitin protein ligase							98	91	93					12																	121855430		2203	4300	6503	SO:0001587	stop_gained	80196				apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding	g.chr12:121855430C>T	AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"RING-type (C3HC4) zinc fingers"	17297	protein-coding gene	gene with protein product		608299	"ring finger protein 34"			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.349C>T	12.37:g.121855430C>T	ENSP00000376257:p.Arg117*					RNF34_ENST00000392465.3_Nonsense_Mutation_p.R118*|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Nonsense_Mutation_p.R117*	p.R117*	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)	3	521	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		117			SAP 1.			Nonsense_Mutation	SNP	ENST00000392464.2	37	c.349C>T		.	.	.	.	.	.	.	.	.	.	C	22.5	4.302047	0.81136	.	.	ENSG00000170633	ENST00000361234;ENST00000392465;ENST00000554606;ENST00000392464;ENST00000354795	.	.	.	5.87	1.75	0.24633	.	0.108690	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-11.5701	16.5911	0.84765	0.5926:0.4074:0.0:0.0	.	.	.	.	X	117;118;110;117;118	.	ENSP00000346850:R118X	R	+	1	2	RNF34	120339813	0.997000	0.39634	0.999000	0.59377	0.982000	0.71751	0.562000	0.23531	0.468000	0.27243	-0.152000	0.13540	CGA		0.428	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000413892.1	NM_194271		5	590	0	0	0	1	0	5	590					T	121855430	C	T	121855430	4	4	120	1	0	0	0	0	0	1	0	0	13539	760	27	1	372	1	RNF34	12	121855430	Nonsense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	8023627	121855430	11996465	85	37821											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	402						8	402	---	---	---	---	-	20426145	CAT	-	20426143	7	5	120	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-XD-AAUL-01A-21D-A397-08		20426143	94743735	86	37822											
PCDH17	27253	broad.mit.edu	37	chr13	58299162	58299162	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaagcagtcagtacTtgcccactgacagtcaatat	8	11	2	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr13:58299162T>G	ENST00000377918.3	+	4	3240	c.3214T>G	c.(3214-3216)Ttg>Gtg	p.L1072V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1072					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1072V(2)|p.L1072L(1)		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)		CAGTCAGTACTTGCCCACTGA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.L1072V(2)|p.L1072L(1)	prostate(1)|large_intestine(1)|lung(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3214-3216)Ttg>Gtg		protocadherin 17							107	103	104					13																	58299162		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299162T>G	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.3214T>G	13.37:g.58299162T>G	ENSP00000367151:p.Leu1072Val						p.L1072V	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3240	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1072					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3214T>G	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	T	6.250	0.414235	0.11870	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.96	1.04	0.20106	.	0.144833	0.46758	D	0.000262	T	0.26521	0.0648	N	0.22421	0.69	0.31959	N	0.608665	B	0.20261	0.043	B	0.16722	0.016	T	0.15867	-1.0422	9	.	.	.	.	5.7106	0.17933	0.1369:0.428:0.0:0.4351	.	1072	O14917	PCD17_HUMAN	V	1072	ENSP00000367151:L1072V	.	L	+	1	2	PCDH17	57197163	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	0.380000	0.20602	0.182000	0.20032	0.533000	0.62120	TTG		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		6	388	0	0	0	1	0	6	388					G	58299162	T	G	58299162	3	3	120	1	0	0	0	0	1	0	0	0	11554	1606	56	4	3228	4	PCDH17	13	58299162	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	37873019	58299162	56870716	87	37823											
APEX1	328	broad.mit.edu	37	chr14	20923820	20923820	+	Frame_Shift_Del	DEL	A	A	-													cgggaatgccgaagcgtgggAaaaagggagcggtggcggaa							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:20923820delA	ENST00000216714.3	+	2	284	c.16delA	c.(16-18)aaafs	p.K7fs	APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|OSGEP_ENST00000206542.4_5'Flank|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557365.1_Intron	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	7	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				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)	GAAGCGTGGGAAAAAGGGAGC	0.557								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(16-18)aafs	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						111	101	104					14																	20923820		2203	4300	6503	SO:0001589	frameshift_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20923820delA	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.16delA	14.37:g.20923820delA	ENSP00000216714:p.Lys7fs					APEX1_ENST00000557365.1_Intron|APEX1_ENST00000555414.1_Frame_Shift_Del_p.K7fs|APEX1_ENST00000398030.4_Frame_Shift_Del_p.K7fs|APEX1_ENST00000557054.1_Frame_Shift_Del_p.K7fs	p.K7fs	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	2	284	+	all_cancers(95;0.00123)	all_lung(585;0.235)	7			Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.		Q969L5|Q99775	Frame_Shift_Del	DEL	ENST00000216714.3	37	c.16delA	CCDS9550.1																																																																																				0.557	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		7	637						7	637	---	---	---	---	-	20923820	A	-	20923820	7	5	120	1	0	1	0	1	0	0	0	0	769	247	9	0	18	0	APEX1	14	20923820	Frame_Shift_Del	DEL	A	TCGA-XD-AAUL-01A-21D-A397-08		20923820	86425720	88	37824											
SLC8A3	6547	broad.mit.edu	37	chr14	70634978	70634978	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggatgacaccctccttGcagtccgatgaccctgaaca	10	14	0	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:70634978G>T	ENST00000381269.2	-	2	915	c.162C>A	c.(160-162)tgC>tgA	p.C54*	SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	54					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACCCTCCTTGCAGTCCGATG	0.542																																						ENST00000381269.2																			0				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						c.(160-162)tgC>tgA		solute carrier family 8 (sodium/calcium exchanger), member 3							72	60	64					14																	70634978		2203	4300	6503	SO:0001587	stop_gained	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70634978G>T	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.162C>A	14.37:g.70634978G>T	ENSP00000370669:p.Cys54*					SLC8A3_ENST00000528359.1_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000356921.2_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000357887.3_Nonsense_Mutation_p.C54*|SLC8A3_ENST00000534137.1_Nonsense_Mutation_p.C54*	p.C54*	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	915	-			54					Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Nonsense_Mutation	SNP	ENST00000381269.2	37	c.162C>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790219	0.90367	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	.	.	.	4.84	1.96	0.26148	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5618	0.33516	0.3052:0.0:0.6948:0.0	.	.	.	.	X	54	.	ENSP00000349392:C54X	C	-	3	2	SLC8A3	69704731	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.591000	0.53986	0.645000	0.30675	-0.251000	0.11542	TGC		0.542	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			39	160	1	0	4.14481e-20	1	4.87091e-20	39	160					T	70634978	G	T	70634978	4	4	120	1	0	0	0	0	0	1	0	0	14758	1311	46	3	2760	3	SLC8A3	14	70634978	Nonsense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	49711158	70634978	36714562	89	37825											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	15	9	0	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr14:103174893G>A	ENST00000570597.1	+	6	743	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	RCOR1_ENST00000262241.6_Missense_Mutation_p.R251Q			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463																																						ENST00000262241.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(751-753)cGg>cAg		REST corepressor 1							122	132	129					14																	103174893		2203	4300	6503	SO:0001583	missense	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding	g.chr14:103174893G>A	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"REST corepressor"	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.743G>A	14.37:g.103174893G>A	ENSP00000459789:p.Arg248Gln					RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	p.R251Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN			6	978	+			248			Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	37	c.752G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433273	0.96150	.	.	ENSG00000089902	ENST00000262241	T	0.47869	0.83	5.88	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.39467	1.215	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.35773	-0.9775	10	0.72032	D	0.01	-19.777	15.22	0.73303	0.0675:0.0:0.9325:0.0	.	248	Q9UKL0	RCOR1_HUMAN	Q	248	ENSP00000262241:R248Q	ENSP00000262241:R248Q	R	+	2	0	RCOR1	102244646	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.441000	0.97557	1.487000	0.48415	0.655000	0.94253	CGG		0.463	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156		7	893	0	0	0	1	0	7	893					A	103174893	G	A	103174893	3	1	120	1	0	0	0	0	1	0	0	0	13232	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	32539915	103174893	4174647	90	37826											
MTMR15	22909	broad.mit.edu	37	chr15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-													cagaagggaaacctcctgacAaaaaaaggcctcgtagaagc							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77	87	84					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"KIAA1018", "myotubularin related protein 15"	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		7	618						7	618	---	---	---	---	-	31196894	A	-	31196894	7	5	120	1	0	1	0	1	0	0	0	0	9984	131	5	0	30	0	MTMR15	15	31196894	Frame_Shift_Del	DEL	A	TCGA-XD-AAUL-01A-21D-A397-08		31196894	71334498	91	37827											
GPR176	11245	broad.mit.edu	37	chr15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgtttctgctcatcttccGctccaccctgcctaccttgg	6	16	3	0	rs373118560		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:40093386G>A	ENST00000561100.1	-	3	2360	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000560729.1_5'Flank|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000299092.3_Missense_Mutation_p.R498W	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512																																						ENST00000299092.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23						c.(1492-1494)Cgg>Tgg		G protein-coupled receptor 176		G	TRP/ARG	0,4406		0,0,2203	111	102	105		1495	3.2	1	15		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR176	NM_007223.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	499/516	40093386	1,13005	2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093386G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"GPCR / Class A : Orphans"	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1495C>T	15.37:g.40093386G>A	ENSP00000453076:p.Arg499Trp					GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000561100.1_Missense_Mutation_p.R499W	p.R498W	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	4	1690	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	499					Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1492C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188762	0.57909	0.0	1.16E-4	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.85556	-2.0	6.17	3.22	0.36961	.	0.112267	0.64402	N	0.000014	T	0.76357	0.3976	L	0.48642	1.525	0.58432	D	0.999999	B	0.33135	0.399	B	0.23275	0.045	T	0.74858	-0.3521	10	0.87932	D	0	-10.342	8.0277	0.30446	0.1344:0.0:0.6508:0.2148	.	499	Q14439	GP176_HUMAN	W	499;454	ENSP00000439361:R454W	ENSP00000299092:R499W	R	-	1	2	GPR176	37880678	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.812000	0.47994	0.939000	0.37446	0.655000	0.94253	CGG		0.512	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		6	517	0	0	0	1	0	6	517					A	40093386	G	A	40093386	3	1	120	1	0	0	0	0	1	0	0	0	6702	1086	38	1	56	1	GPR176	15	40093386	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	8896492	40093386	62438006	92	37828											
CATSPER2	117155	broad.mit.edu	37	chr15	43924970	43924970	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaataggaagaggatgtggaGgagacacaggaggaagactg	18	3	0	3	rs140242525	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:43924970G>T	ENST00000321596.5	-	11	1540	c.1341C>A	c.(1339-1341)tcC>tcA	p.S447S	CATSPER2_ENST00000396879.1_Silent_p.S445S|CATSPER2_ENST00000381761.1_Silent_p.S451S|CATSPER2_ENST00000354127.4_Silent_p.S445S|CATSPER2_ENST00000355438.2_Intron|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	447	Ser-rich.				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)		aggatgtggaggagacacagg	0.378													.|||	2	0.000399361	0.0008	0.0	5008	,	,		19969	0.001		0.0	False		,,,				2504	0.0					ENST00000396879.1																			0				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						c.(1333-1335)tcC>tcA		cation channel, sperm associated 2		G	,	0,4398		0,0,2199	127	122	123		1335,1341	-1	0	15	dbSNP_134	123	3,8589	2.2+/-6.3	0,3,4293	no	coding-synonymous,coding-synonymous	CATSPER2	NM_054020.2,NM_172095.1	,	0,3,6492	TT,TG,GG		0.0349,0.0,0.0231	,	445/529,447/531	43924970	3,12987	2199	4296	6495	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43924970G>T	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.1341C>A	15.37:g.43924970G>T						CATSPER2_ENST00000321596.5_Silent_p.S447S|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.S451S|CATSPER2_ENST00000355438.2_Intron|CATSPER2_ENST00000354127.4_Silent_p.S445S	p.S445S			Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	12	1447	-		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)	447			Ser-rich.		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.1335C>A	CCDS10099.1																																																																																				0.378	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		5	492	1	0	0.014758	1	0.015231	5	492					T	43924970	G	T	43924970	2	4	120	1	0	0	0	0	0	0	0	1	2695	987	35	3		3	CATSPER2	15	43924970	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	3831584	43924970	58606422	93	37829											
AQP9	366	broad.mit.edu	37	chr15	58476236	58476236	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggaggcctcatctatgttCttgtcattgaaatccaccat	7	10	4	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr15:58476236C>G	ENST00000219919.4	+	6	1160	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	AQP9_ENST00000558772.1_Missense_Mutation_p.L199V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.L264V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	264					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CATCTATGTTCTTGTCATTGA	0.433																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(790-792)Ctt>Gtt		aquaporin 9							171	166	168					15																	58476236		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58476236C>G	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"Ion channels / Aquaporins"	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.790C>G	15.37:g.58476236C>G	ENSP00000219919:p.Leu264Val					AQP9_ENST00000536493.1_Missense_Mutation_p.L264V|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.L199V	p.L264V	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	6	1160	+			264					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.790C>G	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	C	9.853	1.194115	0.22037	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	T;T	0.12465	2.68;2.68	5.31	-0.166	0.13351	Aquaporin-like (2);	0.479864	0.18495	N	0.139524	T	0.05044	0.0135	N	0.08118	0	0.09310	N	0.999999	B	0.24576	0.106	B	0.23852	0.049	T	0.34378	-0.9831	10	0.28530	T	0.3	.	3.1734	0.06560	0.1104:0.4588:0.2167:0.2141	.	264	O43315	AQP9_HUMAN	V	264	ENSP00000219919:L264V;ENSP00000441390:L264V	ENSP00000219919:L264V	L	+	1	0	AQP9	56263528	0.003000	0.15002	0.001000	0.08648	0.991000	0.79684	0.074000	0.14662	0.095000	0.17434	0.655000	0.94253	CTT		0.433	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		107	496	0	0	0	1	0	107	496					G	58476236	C	G	58476236	3	3	120	1	0	0	0	0	1	0	0	0	833	913	32	5	812	5	AQP9	15	58476236	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	14551266	58476236	44055156	94	37830											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-													tactggtacctccgctaccgCcaccaccaccaccaaaacgc							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggtggc>ggc	p.120_121GG>G	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000540441.2_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000548025.1_In_Frame_Del_p.120_121GG>G|KIAA0430_ENST00000602337.1_In_Frame_Del_p.120_121GG>G	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	120	Poly-Gly.				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						TCCGCTACCGCCACCACCACCAC	0.532																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(358-363)ggc>gg		KIAA0430																																				SO:0001651	inframe_deletion	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15729982_15729984delCCA	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.360_362delTGG	16.37:g.15729991_15729993delCCA	ENSP00000379654:p.Gly122del					KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del|KIAA0430_ENST00000344181.3_5'UTR	p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			3	566_568	-			119			Poly-Gly.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	In_Frame_Del	DEL	ENST00000396368.3	37	c.360_362delTGG	CCDS10562.2																																																																																				0.532	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	520						7	520	---	---	---	---	-	15729984	CCA	-	15729982	7	5	120	1	0	1	0	1	0	0	0	0	8207	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-XD-AAUL-01A-21D-A397-08		15729982	74624771	95	37831											
HS3ST4	9951	broad.mit.edu	37	chr16	26147120	26147120	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcaaagaaacccgagAtccccacctttgaggtgctg	9	13	1	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:26147120A>G	ENST00000331351.5	+	2	1314	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	308					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAAACCCGAGATCCCCACCTT	0.542																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(922-924)Atc>Gtc		heparan sulfate (glucosamine) 3-O-sulfotransferase 4							156	149	151					16																	26147120		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147120A>G	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.922A>G	16.37:g.26147120A>G	ENSP00000330606:p.Ile308Val					HS3ST4_ENST00000475436.1_3'UTR	p.I308V	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1314	+			308					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.922A>G	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273903	0.59649	.	.	ENSG00000182601	ENST00000331351	T	0.81415	-1.49	5.35	5.35	0.76521	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000002	D	0.82545	0.5060	L	0.55017	1.72	0.47094	D	0.999317	P	0.35944	0.529	P	0.46940	0.532	T	0.81120	-0.1077	10	0.35671	T	0.21	.	14.5047	0.67746	1.0:0.0:0.0:0.0	.	308	Q9Y661	HS3S4_HUMAN	V	308	ENSP00000330606:I308V	ENSP00000330606:I308V	I	+	1	0	HS3ST4	26054621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.265000	0.78442	2.015000	0.59207	0.533000	0.62120	ATC		0.542	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		104	625	0	0	0	1	0	104	625					G	26147120	A	G	26147120	3	3	120	1	0	0	0	0	1	0	0	0	7397	333	12	4	928	4	HS3ST4	16	26147120	Missense_Mutation	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	10417138	26147120	64207633	96	37832											
CES1	1066	broad.mit.edu	37	chr16	55860205	55860205	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttgggatcttgggtgCacctggggagggggaaagaa	18	8	1	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:55860205C>A	ENST00000361503.4	-	3	390	c.260G>T	c.(259-261)tGc>tTc	p.C87F	CES1_ENST00000422046.2_Missense_Mutation_p.C87F|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.C88F			P23141	EST1_HUMAN	carboxylesterase 1	87					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)	p.C88Y(1)							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)	ATCTTGGGTGCACCTGGGGAG	0.502																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			1	Substitution - Missense(1)	p.C88Y(1)	kidney(1)								c.(259-261)tGc>tTc		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						100	123	115					16																	55860205		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55860205C>A	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.260G>T	16.37:g.55860205C>A	ENSP00000355193:p.Cys87Phe					CES1_ENST00000360526.3_Missense_Mutation_p.C88F|CES1_ENST00000361503.4_Missense_Mutation_p.C87F|CES1_ENST00000566555.1_5'UTR	p.C87F			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	3	541	-			87					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.260G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.726717	0.48833	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	D;D;D	0.82984	-1.67;-1.67;-1.67	4.7	4.7	0.59300	Carboxylesterase, type B (1);	0.000000	0.53938	D	0.000048	D	0.93766	0.8007	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.979	D	0.95644	0.8701	10	0.87932	D	0	.	15.1814	0.72962	0.0:1.0:0.0:0.0	rs5023782	87;87;88	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	F	88;87;87	ENSP00000353720:C88F;ENSP00000355193:C87F;ENSP00000390492:C87F	ENSP00000353720:C88F	C	-	2	0	CES1	54417706	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	6.453000	0.73488	2.196000	0.70406	0.400000	0.26472	TGC		0.502	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		7	448	1	0	1.6384e-10	1	1.8708e-10	7	448					A	55860205	C	A	55860205	3	1	120	1	0	0	0	0	1	0	0	0	3278	710	25	3	1491	3	CES1	16	55860205	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	29713085	55860205	34494548	97	37833											
COG8	84342	broad.mit.edu	37	chr16	69368489	69368489	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagggcagcagaggcGcagatcattgaaggcaacca	14	11	1	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr16:69368489G>A	ENST00000306875.4	-	3	1462	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	RP11-343C2.12_ENST00000562949.1_Missense_Mutation_p.R96C|COG8_ENST00000562081.1_Missense_Mutation_p.R450C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	450					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGCAGAGGCGCAGATCATTG	0.592																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1348-1350)Cgc>Tgc		component of oligomeric golgi complex 8							60	57	58					16																	69368489		2198	4300	6498	SO:0001583	missense	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69368489G>A	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.1348C>T	16.37:g.69368489G>A	ENSP00000305459:p.Arg450Cys					COG8_ENST00000562081.1_Missense_Mutation_p.R450C	p.R450C	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			3	1462	-			450					Q0VAK2|Q8WVV6|Q9H6F8	Missense_Mutation	SNP	ENST00000306875.4	37	c.1348C>T	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301854	0.81136	.	.	ENSG00000213380	ENST00000306875	T	0.73363	-0.74	5.86	5.86	0.93980	.	0.098626	0.64402	D	0.000001	D	0.88209	0.6375	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88789	0.3276	10	0.87932	D	0	-1.6234	20.1931	0.98233	0.0:0.0:1.0:0.0	.	477;450	B4DYU2;Q96MW5	.;COG8_HUMAN	C	450	ENSP00000305459:R450C	ENSP00000305459:R450C	R	-	1	0	COG8	67925990	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.241000	0.72369	2.771000	0.95319	0.563000	0.77884	CGC		0.592	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		46	193	0	0	0	1	0	46	193					A	69368489	G	A	69368489	3	1	120	1	0	0	0	0	1	0	0	0	3673	1087	38	1	502	1	COG8	16	69368489	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	13508284	69368489	20986264	98	37834											
SLC16A11	162515	broad.mit.edu	37	chr17	6945697	6945697	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggccccggtctaaagcGtggggagccaagtgcacgta	14	13	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:6945697G>A	ENST00000308009.1	-	3	1141	c.804C>T	c.(802-804)caC>caT	p.H268H	SLC16A11_ENST00000447225.1_Silent_p.H244H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	268					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						GGTCTAAAGCGTGGGGAGCCA	0.672																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(802-804)caC>caT		solute carrier family 16, member 11							19	15	16					17																	6945697		2168	4282	6450	SO:0001819	synonymous_variant	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945697G>A	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.804C>T	17.37:g.6945697G>A						SLC16A11_ENST00000447225.1_Silent_p.H244H	p.H268H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			3	1141	-			268						Silent	SNP	ENST00000308009.1	37	c.804C>T	CCDS11086.1																																																																																				0.672	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		7	30	0	0	0	1	0	7	30					A	6945697	G	A	6945697	2	1	120	1	0	0	0	0	0	0	0	1	14454	1136	40	1		1	SLC16A11	17	6945697	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08		6945697	74249513	99	37835											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	14	13	3	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47	47	47					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		63	216	0	0	0	1	0	63	216					C	7578394	T	C	7578394	3	2	120	1	0	0	0	0	1	0	0	0	16434	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	632697	7578394	73616816	100	37836											
MYH3	4621	broad.mit.edu	37	chr17	10555805	10555805	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggctcattcaggtgcgtcaGcatggccatgtcttcgatcc	11	12	4	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:10555805G>T	ENST00000583535.1	-	4	367	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	MYH3_ENST00000226209.7_Missense_Mutation_p.L94M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	94	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGGTGCGTCAGCATGGCCATG	0.537																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(280-282)Ctg>Atg		myosin, heavy chain 3, skeletal muscle, embryonic							161	134	143					17																	10555805		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555805G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.280C>A	17.37:g.10555805G>T	ENSP00000464317:p.Leu94Met					MYH3_ENST00000226209.7_Missense_Mutation_p.L94M	p.L94M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			4	367	-			94			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.280C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	2.188	-0.385929	0.04966	.	.	ENSG00000109063	ENST00000226209	D	0.85171	-1.95	4.32	4.32	0.51571	Myosin head, motor domain (2);	.	.	.	.	T	0.77818	0.4187	L	0.41079	1.255	0.31399	N	0.676949	B	0.06786	0.001	B	0.23018	0.043	T	0.66308	-0.5956	9	0.06099	T	0.92	.	13.9535	0.64133	0.0:0.0:0.8481:0.1519	.	94	P11055	MYH3_HUMAN	M	94	ENSP00000226209:L94M	ENSP00000226209:L94M	L	-	1	2	MYH3	10496530	0.928000	0.31464	1.000000	0.80357	0.995000	0.86356	-0.023000	0.12456	2.399000	0.81585	0.650000	0.86243	CTG		0.537	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		5	416	1	0	1	1	1	5	416					T	10555805	G	T	10555805	3	4	120	1	0	0	0	0	1	0	0	0	10077	962	34	3	5694	3	MYH3	17	10555805	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	2977411	10555805	70639405	101	37837											
KRT32	3882	broad.mit.edu	37	chr17	39619177	39619177	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggtactcctggttctgCcgctccaggtcagcccggat	11	15	2	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:39619177C>T	ENST00000225899.3	-	6	1225	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	374	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCTGGTTCTGCCGCTCCAGGT	0.647																																						ENST00000225899.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1120-1122)cgG>cgA		keratin 32							78	77	78					17																	39619177		2203	4300	6503	SO:0001819	synonymous_variant	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39619177C>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1122G>A	17.37:g.39619177C>T							p.R374R	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			6	1225	-		Breast(137;0.000812)	374			Coil 2.|Rod.			Silent	SNP	ENST00000225899.3	37	c.1122G>A	CCDS11393.1																																																																																				0.647	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		5	458	0	0	0	1	0	5	458					T	39619177	C	T	39619177	2	4	120	1	0	0	0	0	0	0	0	1	8498	726	26	2		2	KRT32	17	39619177	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	29063372	39619177	41576033	102	37838											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Frame_Shift_Del	DEL	T	T	-													ctgacagggtcaggtagcccTttttcaggtaactgaaccag							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr17:76993313delT	ENST00000302345.2	-	2	886	c.392delA	c.(391-393)aagfs	p.K131fs	CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)agfs		calcium activated nucleotidase 1							184	181	182					17																	76993313		2203	4300	6503	SO:0001589	frameshift_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313delT	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"Soluble Ca-Activated Nucleotidase, isozyme 1"	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.392delA	17.37:g.76993313delT	ENSP00000307674:p.Lys131fs					CANT1_ENST00000392446.5_Frame_Shift_Del_p.K131fs|CANT1_ENST00000591773.1_Frame_Shift_Del_p.K131fs	p.K131fs	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Frame_Shift_Del	DEL	ENST00000302345.2	37	c.392delA	CCDS11760.1																																																																																				0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		7	1458						7	1458	---	---	---	---	-	76993313	T	-	76993313	7	5	120	1	0	1	0	1	0	0	0	0	2624	1609	56	0	825	0	CANT1	17	76993313	Frame_Shift_Del	DEL	T	TCGA-XD-AAUL-01A-21D-A397-08	37374136	76993313	4201897	103	37839											
DAZAP1	26528	broad.mit.edu	37	chr19	1434829	1434829	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	gggtccctccgtgccagggtCggggggcccccccgccggcg	18	18	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:1434829C>G	ENST00000233078.4	+	12	1303	c.1142C>G	c.(1141-1143)tCg>tGg	p.S381W	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	381	Pro-rich.		S -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCAGGGTcggggggcccc	0.711																																						ENST00000233078.4																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(1141-1143)tCg>tGg		DAZ associated protein 1							13	17	15					19																	1434829		2201	4294	6495	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1434829C>G		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1142C>G	19.37:g.1434829C>G	ENSP00000233078:p.Ser381Trp					DAZAP1_ENST00000336761.6_3'UTR	p.S381W	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1303	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	381		S -> T (in a breast cancer sample; somatic mutation).	Pro-rich.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.1142C>G	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797840	0.50208	.	.	ENSG00000071626	ENST00000233078	T	0.32988	1.43	5.26	5.26	0.73747	.	0.261682	0.39544	N	0.001336	T	0.39462	0.1079	N	0.19112	0.55	0.80722	D	1	D;D;D	0.62365	0.985;0.985;0.991	P;P;P	0.60541	0.756;0.756;0.876	T	0.38779	-0.9645	10	0.87932	D	0	.	17.8389	0.88709	0.0:1.0:0.0:0.0	.	448;381;147	Q5IRN4;Q96EP5;B3KS63	.;DAZP1_HUMAN;.	W	381	ENSP00000233078:S381W	ENSP00000233078:S381W	S	+	2	0	DAZAP1	1385829	1.000000	0.71417	0.259000	0.24435	0.840000	0.47671	5.418000	0.66429	2.454000	0.82982	0.561000	0.74099	TCG		0.711	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		13	100	0	0	0	1	0	13	100					G	1434829	C	G	1434829	3	3	120	1	0	0	0	0	1	0	0	0	4255	893	31	5	1281	5	DAZAP1	19	1434829	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		1434829	57694154	104	37840											
TNPO2	30000	broad.mit.edu	37	chr19	12826533	12826533	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagctcacccttggaagCgatggtggtgatgagaatgc	14	9	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:12826533C>T	ENST00000592287.1	-	5	454	c.346G>A	c.(346-348)Gct>Act	p.A116T	TNPO2_ENST00000425528.1_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	116					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTTGGAAGCGATGGTGGTG	0.632																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(346-348)Gct>Act		transportin 2							41	47	45					19																	12826533		2074	4210	6284	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12826533C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.346G>A	19.37:g.12826533C>T	ENSP00000468434:p.Ala116Thr					TNPO2_ENST00000592287.1_Missense_Mutation_p.A116T|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.A116T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A116T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A116T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A116T	p.A116T			O14787	TNPO2_HUMAN			6	703	-			116					O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.346G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203182	0.58234	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.050139	0.85682	D	0.000000	T	0.70064	0.3181	M	0.76433	2.335	0.58432	D	0.999999	B;B	0.30482	0.281;0.246	B;B	0.19148	0.024;0.019	T	0.69446	-0.5143	10	0.39692	T	0.17	-24.7164	18.0522	0.89353	0.0:1.0:0.0:0.0	.	280;116	Q4LE60;O14787	.;TNPO2_HUMAN	T	280;116;116;116;116;116;116	ENSP00000407182:A116T;ENSP00000389648:A116T;ENSP00000397379:A116T;ENSP00000349321:A116T	ENSP00000349321:A116T	A	-	1	0	TNPO2	12687533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.330000	0.59266	2.563000	0.86464	0.555000	0.69702	GCT		0.632	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		9	78	0	0	0	1	0	9	78					T	12826533	C	T	12826533	3	4	120	1	0	0	0	0	1	0	0	0	16388	768	27	1	2427	1	TNPO2	19	12826533	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	11391704	12826533	46302450	105	37841											
IL12RB1	3594	broad.mit.edu	37	chr19	18194264	18194265	+	Frame_Shift_Ins	INS	-	-	G													agtctgcatccggatatggcINSgggtcctgaaaacagcactc					rs113524129|rs146978336	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:18194264_18194265insG	ENST00000600835.2	-	3	399_400	c.101_102insC	c.(100-102)ccgfs	p.P34fs	IL12RB1_ENST00000322153.7_Frame_Shift_Ins_p.P34fs|IL12RB1_ENST00000593993.2_Frame_Shift_Ins_p.P34fs			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	34					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGGATATGGCGGGTCCTGAAA	0.564																																						ENST00000600835.1																			0				endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						c.(100-102)cccfs		interleukin 12 receptor, beta 1																																				SO:0001589	frameshift_variant	0				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18194264_18194265insG	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.102dupC	19.37:g.18194267_18194267dupG	ENSP00000470788:p.Pro34fs					IL12RB1_ENST00000593993.1_Frame_Shift_Ins_p.P34fs|IL12RB1_ENST00000430026.2_Frame_Shift_Ins_p.P34fs|IL12RB1_ENST00000322153.6_Frame_Shift_Ins_p.P34fs	p.P34fs			P42701	I12R1_HUMAN			3	404_405	-			34					A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Frame_Shift_Ins	INS	ENST00000600835.2	37	c.101_102insC	CCDS54232.1																																																																																				0.564	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			7	579						7	579	---	---	---	---	G	18194265	-	G	18194264	7	5	120	1	0	1	1	0	0	0	0	0	7656	755	27	0	2079	0	IL12RB1	19	18194264	Frame_Shift_Ins	INS	-	TCGA-XD-AAUL-01A-21D-A397-08	5367731	18194264	40934719	106	37842											
ZNF254	9534	broad.mit.edu	37	chr19	24309874	24309874	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaGcttttagccagtcctcaacc	9	9	1	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309874G>T	ENST00000357002.4	+	4	1187	c.1072G>T	c.(1072-1074)Gct>Tct	p.A358S	ZNF254_ENST00000342944.6_Missense_Mutation_p.A273S	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	358					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)				ATGTGGCAAAGCTTTTAGCCA	0.398																																						ENST00000357002.4																			0											c.(1072-1074)Gct>Tct		zinc finger protein 254							59	60	60					19																	24309874		2200	4293	6493	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309874G>T	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.1072G>T	19.37:g.24309874G>T	ENSP00000349494:p.Ala358Ser					ZNF254_ENST00000342944.6_Missense_Mutation_p.A273S	p.A358S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1187	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	358					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1072G>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599489	0.46318	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35973	1.28;1.28	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32436	0.0829	N	0.13198	0.31	0.09310	N	1	D	0.65815	0.995	P	0.62184	0.899	T	0.10497	-1.0627	9	0.52906	T	0.07	.	3.4424	0.07468	0.2942:0.0:0.7058:0.0	.	358	O75437	ZN254_HUMAN	S	273;358	ENSP00000445527:A273S;ENSP00000349494:A358S	ENSP00000445527:A273S	A	+	1	0	ZNF254	24101714	0.000000	0.05858	0.018000	0.16275	0.625000	0.37756	-1.341000	0.02647	0.525000	0.28522	0.298000	0.19748	GCT		0.398	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	367	1	0	1.23904e-05	1	1.3299e-05	5	367					T	24309874	G	T	24309874	3	4	120	1	0	0	0	0	1	0	0	0	17851	971	34	3	1086	3	ZNF254	19	24309874	Missense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	6115610	24309874	34819109	107	37843			1	32		2	2	12	G		4.334992e-05
ZNF254	9534	broad.mit.edu	37	chr19	24309885	24309885	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcttttagccaGtcctcaacccttactacaca	6	13	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	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	361					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)				CTTTTAGCCAGTCCTCAACCC	0.393																																						ENST00000357002.4																			0											c.(1081-1083)caG>caA		zinc finger protein 254							57	58	58					19																	24309885		2201	4293	6494	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309885G>A	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1083G>A	19.37:g.24309885G>A						ZNF254_ENST00000342944.6_Silent_p.Q276Q	p.Q361Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1198	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	361					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1083G>A	CCDS32983.1																																																																																				0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	355	0	0	0	1	0	5	355					A	24309885	G	A	24309885	2	1	120	1	0	0	0	0	0	0	0	1	17851	1020	36	2		2	ZNF254	19	24309885	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	11	24309885	34819098	108	37844			1	32		2	2	12	G		4.334992e-05
FCGBP	8857	broad.mit.edu	37	chr19	40368706	40368706	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccatgttaccgcagagcccGcacactgcgccatgatagct	9	15	0	2			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:40368706G>A	ENST00000221347.6	-	28	12649	c.12642C>T	c.(12640-12642)tgC>tgT	p.C4214C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4214	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCAGAGCCCGCACACTGCGC	0.607																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12640-12642)tgC>tgT		Fc fragment of IgG binding protein							236	238	237					19																	40368706		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40368706G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12642C>T	19.37:g.40368706G>A							p.C4214C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12649	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4214			VWFD 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.12642C>T	CCDS12546.1																																																																																				0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		10	1977	0	0	0	1	0	10	1977					A	40368706	G	A	40368706	2	1	120	1	0	0	0	0	0	0	0	1	5803	1079	38	1		1	FCGBP	19	40368706	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	16058821	40368706	18760277	109	37845											
ZNF428	126299	broad.mit.edu	37	chr19	44111875	44111877	+	In_Frame_Del	DEL	TCC	TCC	-													aggttccctcctcctcctctTcctcctcctcctcccgccca							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:44111875_44111877delTCC	ENST00000300811.3	-	3	905_907	c.459_461delGGA	c.(457-462)gaggaa>gaa	p.153_154EE>E	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	153	Glu-rich.						metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				ctcctcctcttcctcctcctcct	0.66																																						ENST00000300811.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5						c.(457-462)gaa>ga		zinc finger protein 428																																				SO:0001651	inframe_deletion	126299					intracellular	zinc ion binding	g.chr19:44111875_44111877delTCC	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.459_461delGGA	19.37:g.44111884_44111886delTCC	ENSP00000300811:p.Glu158del					SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	p.EE157del	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN			3	905_907	-		Prostate(69;0.0153)	157			Glu-rich.		O95054|Q6X3Y3	In_Frame_Del	DEL	ENST00000300811.3	37	c.459_461delGGA	CCDS12626.1																																																																																				0.66	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		9	242						9	242	---	---	---	---	-	44111877	TCC	-	44111875	7	5	120	1	0	1	0	1	0	0	0	0	17954	1783	62	0	109	0	ZNF428	19	44111875	In_Frame_Del	DEL	TCC	TCGA-XD-AAUL-01A-21D-A397-08	3743169	44111875	15017108	110	37846											
BCL3	602	broad.mit.edu	37	chr19	45262726	45262726	+	Frame_Shift_Del	DEL	C	C	-													cctcctcaccctcccagtctCcccccagggacccccctgga							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:45262726delC	ENST00000164227.5	+	9	1463	c.1219delC	c.(1219-1221)cccfs	p.P408fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	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)				CTCCCAGTCTCCCCCCAGGGA	0.627			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1219-1221)ccfs		B-cell CLL/lymphoma 3							199	212	208					19																	45262726		2203	4300	6503	SO:0001589	frameshift_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262726delC	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.1219delC	19.37:g.45262726delC	ENSP00000164227:p.Pro408fs						p.P408fs	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1463	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	408			Pro/Ser-rich.			Frame_Shift_Del	DEL	ENST00000164227.5	37	c.1219delC	CCDS12642.2																																																																																				0.627	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		7	2459						7	2459	---	---	---	---	-	45262726	C	-	45262726	7	5	120	1	0	1	0	1	0	0	0	0	1376	855	30	0	1253	0	BCL3	19	45262726	Frame_Shift_Del	DEL	C	TCGA-XD-AAUL-01A-21D-A397-08	1150851	45262726	13866257	111	37847											
PVRL2	5819	broad.mit.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-													tggaaccagatggcaaggatGaggaggaggaggaggaggaa					rs558397688	byFrequency	TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		12	183						12	183	---	---	---	---	-	45381751	GAG	-	45381749	6	5	120	0	1	1	0	1	0	0	0	0	12890	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-XD-AAUL-01A-21D-A397-08	119023	45381749	13747234	112	37848											
PANK2	80025	broad.mit.edu	37	chr20	3899375	3899375	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaattaatacgatcgccatgCggcttttggcatatgctttg	10	8	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr20:3899375C>T	ENST00000316562.4	+	6	1600	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	PANK2_ENST00000497424.1_Missense_Mutation_p.R241W|MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000610179.1_Missense_Mutation_p.R409W	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	532			R -> W (in NBIA1). {ECO:0000269|PubMed:12510040}.		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						GATCGCCATGCGGCTTTTGGC	0.388																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	GRCh37	CM033434	PANK2	M		c.(721-723)Cgg>Tgg		pantothenate kinase 2							201	198	199					20																	3899375		2203	4300	6503	SO:0001583	missense	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3899375C>T	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.1594C>T	20.37:g.3899375C>T	ENSP00000313377:p.Arg532Trp					PANK2_ENST00000316562.4_Missense_Mutation_p.R532W|PANK2_ENST00000336066.3_3'UTR	p.R241W	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			6	1032	+			532			Poly-Glu.		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	ENST00000316562.4	37	c.721C>T	CCDS13071.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167626	0.78339	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99537	-6.11;-6.11	5.12	1.89	0.25635	.	0.058340	0.64402	D	0.000003	D	0.99083	0.9685	L	0.46819	1.47	0.36196	D	0.850384	D	0.89917	1.0	D	0.77557	0.99	D	0.99414	1.0931	10	0.87932	D	0	.	5.9846	0.19426	0.4537:0.4539:0.0:0.0925	.	532	Q9BZ23	PANK2_HUMAN	W	241;532;348	ENSP00000417609:R241W;ENSP00000313377:R532W	ENSP00000313377:R532W	R	+	1	2	PANK2	3847375	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	6.670000	0.74467	0.735000	0.32537	0.655000	0.94253	CGG		0.388	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		6	816	0	0	0	1	0	6	816					T	3899375	C	T	3899375	3	4	120	1	0	0	0	0	1	0	0	0	11459	759	27	1	1616	1	PANK2	20	3899375	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		3899375	59126145	113	37849											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	12	13	0	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr20:46279833G>A	ENST00000371998.3	+	20	3950	c.3759G>A	c.(3757-3759)caG>caA	p.Q1253Q	NCOA3_ENST00000372004.3_Silent_p.Q1249Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3747)caG>caA		nuclear receptor coactivator 3							46	53	50					20																	46279833		2202	4300	6502	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759G>A	20.37:g.46279833G>A						NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	p.Q1249Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3963	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3747G>A	CCDS13407.1																																																																																				0.547	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		6	280	0	0	0	1	0	6	280					A	46279833	G	A	46279833	2	1	120	1	0	0	0	0	0	0	0	1	10272	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	42380458	46279833	16745687	114	37850											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-													tcgctgatacctccacggccTttttttgttattatgtccat					rs375419913		TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458																																						ENST00000290219.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13						c.(514-516)ttfs		interferon gamma receptor 2 (interferon gamma transducer 1)	Interferon gamma-1b(DB00033)						226	232	230					21																	34799292		2203	4300	6503	SO:0001589	frameshift_variant	3460				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	g.chr21:34799292delT		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.514delT	21.37:g.34799292delT	ENSP00000290219:p.Phe173fs					IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	p.F173fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN			4	1162	+			173			Fibronectin type-III 2.		Q9BTL5	Frame_Shift_Del	DEL	ENST00000290219.6	37	c.514delT	CCDS33544.1																																																																																				0.458	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1			7	1267						7	1267	---	---	---	---	-	34799292	T	-	34799292	7	5	120	1	0	1	0	1	0	0	0	0	7580	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-XD-AAUL-01A-21D-A397-08		34799292	13330603	115	37851											
RIMBP3	85376	broad.mit.edu	37	chr22	20457064	20457064	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctggcaccctctcttcaccCccagagcttgtccttgcctg	8	18	2	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:20457064C>T	ENST00000426804.1	-	1	4722	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1413										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCTCTTCACCCCCAGAGCTTG	0.632																																						ENST00000426804.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(4237-4239)gGg>gAg		RIMS binding protein 3							5	7	6					22																	20457064		1076	2880	3956	SO:0001583	missense	85376							g.chr22:20457064C>T	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4238G>A	22.37:g.20457064C>T	ENSP00000391564:p.Gly1413Glu						p.G1413E	NM_015672.1	NP_056487.1			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		1	4722	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	ENST00000426804.1	37	c.4238G>A	CCDS46665.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515436	0.44763	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.17054	2.3	3.58	2.51	0.30379	.	1.948520	0.02516	N	0.092008	T	0.22399	0.0540	L	0.52573	1.65	0.09310	N	1	D	0.54047	0.964	B	0.44224	0.444	T	0.24368	-1.0162	10	0.66056	D	0.02	-6.4639	8.1334	0.31039	0.2404:0.7596:0.0:0.0	.	1319	Q9UFD9	RIM3A_HUMAN	E	1319;1413	ENSP00000391564:G1413E	ENSP00000347318:G1319E	G	-	2	0	RIMBP3	18837064	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.054000	0.14205	0.805000	0.34159	0.423000	0.28283	GGG		0.632	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672		13	59	0	0	0	1	0	13	59					T	20457064	C	T	20457064	3	4	120	1	0	0	0	0	1	0	0	0	13414	623	22	2	685	2	RIMBP3	22	20457064	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08		20457064	30847502	116	37852											
TTLL8	164714	broad.mit.edu	37	chr22	50472798	50472798	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggactcacctcggccccgggActtggccgcgggctttataa	13	14	1	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chr22:50472798A>G	ENST00000266182.6	-	9	1014	c.1015T>C	c.(1015-1017)Tcc>Ccc	p.S339P	TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	359	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGGCCCCGGGACTTGGCCGCG	0.607																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(1015-1017)Tcc>Ccc		tubulin tyrosine ligase-like family, member 8							39	43	42					22																	50472798		1916	4110	6026	SO:0001583	missense	164714							g.chr22:50472798A>G			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1015T>C	22.37:g.50472798A>G	ENSP00000266182:p.Ser339Pro					TTLL8_ENST00000440475.1_Missense_Mutation_p.S323P	p.S339P						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	9	1014	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Missense_Mutation	SNP	ENST00000266182.6	37	c.1015T>C		.	.	.	.	.	.	.	.	.	.	A	16.98	3.271331	0.59649	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.06608	3.28;3.28;3.28	4.61	4.61	0.57282	.	0.136701	0.51477	D	0.000092	T	0.34424	0.0897	H	0.94385	3.53	0.37158	D	0.902473	D	0.89917	1.0	D	0.91635	0.999	T	0.57201	-0.7852	10	0.87932	D	0	.	13.2755	0.60184	1.0:0.0:0.0:0.0	.	339	B5MDV0	.	P	339;323;359	ENSP00000266182:S339P;ENSP00000387509:S323P;ENSP00000392252:S359P	ENSP00000266182:S339P	S	-	1	0	TTLL8	48814925	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.401000	0.73256	1.836000	0.53414	0.459000	0.35465	TCC		0.607	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		59	220	0	0	0	1	0	59	220					G	50472798	A	G	50472798	3	3	120	1	0	0	0	0	1	0	0	0	16787	275	10	4	1512	4	TTLL8	22	50472798	Missense_Mutation	SNP	A	TCGA-XD-AAUL-01A-21D-A397-08	30015734	50472798	831768	117	37853											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-													aacccccagaggtggaggaaGaggaggaggaggaggaggag							TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				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						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	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.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	83						7	83	---	---	---	---	-	21627680	GAG	-	21627678	7	5	120	1	0	1	0	1	0	0	0	0	3616	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-XD-AAUL-01A-21D-A397-08		21627678	133642882	118	37854											
CYLC1	1538	broad.mit.edu	37	chrX	83129622	83129622	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctccacctccaaaaCcaagatatgctcctttggta	5	15	0	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:83129622C>A	ENST00000329312.4	+	4	1943	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	636	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACCTCCAAAACCAAGATATGC	0.383																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1906-1908)Cca>Aca		cylicin, basic protein of sperm head cytoskeleton 1							63	54	57					X																	83129622		2202	4299	6501	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129622C>A	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.1906C>A	X.37:g.83129622C>A	ENSP00000331556:p.Pro636Thr						p.P636T	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			4	1943	+			636			Pro-rich.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1906C>A	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	7.831	0.719819	0.15372	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.54071	0.59	3.48	2.6	0.31112	.	.	.	.	.	T	0.48223	0.1488	L	0.34521	1.04	0.20489	N	0.999899	P;D	0.62365	0.603;0.991	B;P	0.50659	0.397;0.647	T	0.32322	-0.9911	9	0.66056	D	0.02	-4.5343	8.0054	0.30321	0.0:0.7561:0.2439:0.0	.	636;636	P35663;F5H4V5	CYLC1_HUMAN;.	T	636	ENSP00000331556:P636T	ENSP00000331556:P636T	P	+	1	0	CYLC1	83016278	0.996000	0.38824	1.000000	0.80357	0.463000	0.32649	0.517000	0.22832	0.813000	0.34350	0.513000	0.50165	CCA		0.383	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		28	104	1	0	1.12875e-08	1	1.27083e-08	28	104					A	83129622	C	A	83129622	3	1	120	1	0	0	0	0	1	0	0	0	4152	507	18	3	1920	3	CYLC1	23	83129622	Missense_Mutation	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	61501944	83129622	72140938	119	37855											
SATL1	340562	broad.mit.edu	37	chrX	84362345	84362345	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggcttactttaatcagtcGcaaaatttctgggcagtctc	8	9	3	0			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:84362345G>A	ENST00000395409.3	-	1	1629	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*|SATL1_ENST00000509231.1_Nonsense_Mutation_p.R544*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	357	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)	p.R544R(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTAATCAGTCGCAAAATTTCT	0.458																																						ENST00000509231.1																			1	Substitution - coding silent(1)	p.R544R(1)	endometrium(1)	NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(1630-1632)Cga>Tga		spermidine/spermine N1-acetyl transferase-like 1							53	44	47					X																	84362345		2203	4300	6503	SO:0001587	stop_gained	340562						N-acetyltransferase activity	g.chrX:84362345G>A	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.1069C>T	X.37:g.84362345G>A	ENSP00000378804:p.Arg357*					SATL1_ENST00000332921.5_Nonsense_Mutation_p.R357*|SATL1_ENST00000395409.3_Nonsense_Mutation_p.R357*	p.R544*			Q86VE3	SATL1_HUMAN			1	1709	-			357					A0AVK7|E9PB72|Q5H8V9	Nonsense_Mutation	SNP	ENST00000395409.3	37	c.1630C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.626167	0.97714	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	.	.	.	3.54	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7275	9.2535	0.37568	0.0:0.0:0.7766:0.2234	.	.	.	.	X	357;357;544	.	ENSP00000329115:R357X	R	-	1	2	SATL1	84249001	0.291000	0.24352	0.213000	0.23690	0.003000	0.03518	3.144000	0.50616	0.828000	0.34709	0.506000	0.49869	CGA		0.458	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		4	231	0	0	0	1	0	4	231					A	84362345	G	A	84362345	4	1	120	1	0	0	0	0	0	1	0	0	13905	1095	38	1	288	1	SATL1	23	84362345	Nonsense_Mutation	SNP	G	TCGA-XD-AAUL-01A-21D-A397-08	1232723	84362345	70908215	120	37856											
HTR2C	3358	broad.mit.edu	37	chrX	114141583	114141583	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatgtggtgcccatttTtcattaccaatattctgtct	6	9	4	1			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:114141583T>G	ENST00000276198.1	+	6	1710	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	328	Agonist binding. {ECO:0000250}.				behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GTGCCCATTTTTCATTACCAA	0.403																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(982-984)Ttc>Gtc		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						202	179	187					X																	114141583		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141583T>G		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.982T>G	X.37:g.114141583T>G	ENSP00000276198:p.Phe328Val					HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.F328V	p.F328V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1710	+			328					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.982T>G	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525410	0.64747	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.38240	1.15;1.15	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.231260	0.43579	D	0.000553	T	0.70482	0.3229	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79804	-0.1649	10	0.87932	D	0	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	328	P28335	5HT2C_HUMAN	V	328	ENSP00000276198:F328V;ENSP00000361019:F328V	ENSP00000276198:F328V	F	+	1	0	HTR2C	114047839	1.000000	0.71417	0.985000	0.45067	0.632000	0.37999	7.934000	0.87649	1.827000	0.53221	0.381000	0.24937	TTC		0.403	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		4	329	0	0	0	1	0	4	329					G	114141583	T	G	114141583	3	3	120	1	0	0	0	0	1	0	0	0	7473	1841	64	4	996	4	HTR2C	23	114141583	Missense_Mutation	SNP	T	TCGA-XD-AAUL-01A-21D-A397-08	29779238	114141583	41128977	121	37857											
LAMP2	3920	broad.mit.edu	37	chrX	119575595	119575595	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgattcttacctgtagaataCtttccttgtgtcacattgaa	6	8	2	3			TCGA-XD-AAUL-01A-21D-A397-08	TCGA-XD-AAUL-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb754fc7-9cd4-4b87-82a8-0392f3d69776	6bc1f3c1-b858-474b-b078-a1120387bcd5	g.chrX:119575595C>T	ENST00000200639.4	-	8	1219	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	LAMP2_ENST00000540603.1_Silent_p.K314K|LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000371335.4_Silent_p.K361K			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	361	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGTAGAATACTTTCCTTGTG	0.343																																						ENST00000371335.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1081-1083)aaG>aaA		lysosomal-associated membrane protein 2							115	105	108					X																	119575595		2203	4300	6503	SO:0001819	synonymous_variant	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119575595C>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1083G>A	X.37:g.119575595C>T						LAMP2_ENST00000538785.1_Silent_p.K250K|LAMP2_ENST00000434600.2_Silent_p.K361K|LAMP2_ENST00000200639.4_Silent_p.K361K|LAMP2_ENST00000540603.1_Silent_p.K314K	p.K361K	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN			8	1219	-			361			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	c.1083G>A	CCDS14599.1																																																																																				0.343	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			57	125	0	0	0	1	0	57	125					T	119575595	C	T	119575595	2	4	120	1	0	0	0	0	0	0	0	1	8649	564	20	2		2	LAMP2	23	119575595	Silent	SNP	C	TCGA-XD-AAUL-01A-21D-A397-08	5434012	119575595	35694965	122	37858											
PER3	8863	broad.mit.edu	37	chr1	7887545	7887545	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gctttcccttttccttacttGgatacttttatgaccgtttt	5	10	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:7887545G>T	ENST00000361923.2	+	17	2707	c.2532G>T	c.(2530-2532)ttG>ttT	p.L844F	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.L852F	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	844	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L844F(1)		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)		TTCCTTACTTGGATACTTTTA	0.567																																						ENST00000377532.3																			1	Substitution - Missense(1)	p.L844F(1)	lung(1)	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						c.(2554-2556)ttG>ttT		period circadian clock 3							174	170	171					1																	7887545		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7887545G>T	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.2532G>T	1.37:g.7887545G>T	ENSP00000355031:p.Leu844Phe					PER3_ENST00000361923.2_Missense_Mutation_p.L844F	p.L852F			P56645	PER3_HUMAN		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)	17	2780	+	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)	844			Pro-rich.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.2556G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104242	0.37145	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10668	2.85;2.85	4.2	1.02	0.19986	.	2.753630	0.02126	N	0.056017	T	0.11196	0.0273	L	0.41492	1.28	0.09310	N	1	B;B;B;B	0.19583	0.037;0.021;0.036;0.037	B;B;B;B	0.19391	0.008;0.011;0.025;0.008	T	0.31223	-0.9951	10	0.36615	T	0.2	.	6.0045	0.19539	0.2296:0.1546:0.6158:0.0	.	844;852;852;844	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	F	852;844;55	ENSP00000366755:L852F;ENSP00000355031:L844F	ENSP00000355031:L844F	L	+	3	2	PER3	7810132	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	0.087000	0.14958	0.021000	0.15133	0.555000	0.69702	TTG		0.567	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		13	937	1	0	1.05317e-09	1.49906e-05	3.1956e-07	13	937					T	7887545	G	T	7887545	3	4	121	1	0	0	0	0	1	0	0	0	11773	1339	47	3	2598	3	PER3	1	7887545	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		7887545	241363076	1	37859											
RERE	473	broad.mit.edu	37	chr1	8716108	8716109	+	Frame_Shift_Ins	INS	-	-	T													ctgtcctttcataacgagacINSttttttttcggtggtttctt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:8716108_8716109insT	ENST00000337907.3	-	3	882_883	c.248_249insA	c.(247-249)aagfs	p.K83fs	RERE_ENST00000400907.2_Frame_Shift_Ins_p.K83fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.K83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	83					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)		CATAACGAGACTTTTTTTTCGG	0.45																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(247-249)atcfs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716108_8716109insT	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.249dupA	1.37:g.8716116_8716116dupT	ENSP00000338629:p.Lys83fs					RERE_ENST00000400908.2_Frame_Shift_Ins_p.I83fs|RERE_ENST00000400907.2_Frame_Shift_Ins_p.I83fs	p.I83fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	882_883	-	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)	83					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Ins	INS	ENST00000337907.3	37	c.248_249insA	CCDS95.1																																																																																				0.45	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			7	1338						7	1338	---	---	---	---	T	8716109	-	T	8716108	7	5	121	1	0	1	1	0	0	0	0	0	13281	564	20	0	4539	0	RERE	1	8716108	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	828563	8716108	240534513	2	37860											
PADI1	29943	broad.mit.edu	37	chr1	17555158	17555158	+	Frame_Shift_Del	DEL	C	C	-													actacaaacaggtgctggggCcccagtgtctgtcctatgaa							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17555158delC	ENST00000375471.4	+	7	783	c.691delC	c.(691-693)cccfs	p.P231fs		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	231					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTGCTGGGGCCCCAGTGTCT	0.582																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(691-693)ccfs		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						144	159	154					1																	17555158		2203	4300	6503	SO:0001589	frameshift_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17555158delC	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.691delC	1.37:g.17555158delC	ENSP00000364620:p.Pro231fs						p.P231fs	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	7	783	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	231					A1L4K6|Q70SX6	Frame_Shift_Del	DEL	ENST00000375471.4	37	c.691delC	CCDS178.1																																																																																				0.582	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	1287						7	1287	---	---	---	---	-	17555158	C	-	17555158	7	5	121	1	0	1	0	1	0	0	0	0	11419	739	26	0	717	0	PADI1	1	17555158	Frame_Shift_Del	DEL	C	TCGA-XN-A8T3-01A-11D-A36O-08	8839050	17555158	231695463	3	37861											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17958842	17958842	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctcaggccagcggcagctGctcctgtgtgagacgttgac	13	13	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:17958842G>A	ENST00000361221.3	+	16	1770	c.1611G>A	c.(1609-1611)ctG>ctA	p.L537L	ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Silent_p.L315L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	537						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCGGCAGCTGCTCCTGTGTG	0.627																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1609-1611)ctG>ctA		Rho guanine nucleotide exchange factor (GEF) 10-like							77	78	78					1																	17958842		2203	4300	6503	SO:0001819	synonymous_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17958842G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1611G>A	1.37:g.17958842G>A						ARHGEF10L_ENST00000452522.1_Silent_p.L498L|ARHGEF10L_ENST00000167825.4_Silent_p.L245L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375420.3_Silent_p.L295L|ARHGEF10L_ENST00000375415.1_Silent_p.L498L|ARHGEF10L_ENST00000434513.1_Silent_p.L537L|ARHGEF10L_ENST00000375408.3_Silent_p.L315L	p.L537L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	16	1770	+		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)	537					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	ENST00000361221.3	37	c.1611G>A	CCDS182.1																																																																																				0.627	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		85	473	0	0	0	2.47226e-05	0	85	473					A	17958842	G	A	17958842	2	1	121	1	0	0	0	0	0	0	0	1	895	1306	46	2		2	ARHGEF10L	1	17958842	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	403684	17958842	231291779	4	37862											
DLGAP3	58512	broad.mit.edu	37	chr1	35370281	35370283	+	In_Frame_Del	DEL	TGG	TGG	-													tcctcttgccgtgccgggacTggtggtggtggtgatggtgg							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:35370281_35370283delTGG	ENST00000373347.1	-	3	970_972	c.702_704delCCA	c.(700-705)caccag>cag	p.H234del	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_In_Frame_Del_p.H234del			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	234	Poly-His.				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)				GTGCCGGGACtggtggtggtggt	0.65																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(700-705)cag>ca		discs, large (Drosophila) homolog-associated protein 3																																				SO:0001651	inframe_deletion	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370281_35370283delTGG	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.702_704delCCA	1.37:g.35370290_35370292delTGG	ENSP00000362444:p.His234del					DLGAP3_ENST00000235180.4_In_Frame_Del_p.HQ234del	p.HQ234del			O95886	DLGP3_HUMAN			3	970_972	-		Myeloproliferative disorder(586;0.0393)	234			Poly-His.		Q5TDD5|Q9H3X7	In_Frame_Del	DEL	ENST00000373347.1	37	c.702_704delCCA	CCDS30670.1																																																																																				0.65	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		7	489						7	489	---	---	---	---	-	35370283	TGG	-	35370281	7	5	121	1	0	1	0	1	0	0	0	0	4577	1580	55	0	2275	0	DLGAP3	1	35370281	In_Frame_Del	DEL	TGG	TCGA-XN-A8T3-01A-11D-A36O-08	17411439	35370281	213880340	5	37863											
ZMYM4	9202	broad.mit.edu	37	chr1	35859318	35859318	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acctcttgcaaaccacatacCcaaaacaaagaatgccagac	4	14	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:35859318C>A	ENST00000314607.6	+	18	2969	c.2889C>A	c.(2887-2889)acC>acA	p.T963T	ZMYM4_ENST00000373297.2_Silent_p.T874T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	963					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)				AACCACATACCCAAAACAAAG	0.393																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(2887-2889)acC>acA		zinc finger, MYM-type 4							118	106	110					1																	35859318		2203	4300	6503	SO:0001819	synonymous_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35859318C>A	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.2889C>A	1.37:g.35859318C>A						ZMYM4_ENST00000373297.2_Silent_p.T874T	p.T963T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			18	2969	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	963					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Silent	SNP	ENST00000314607.6	37	c.2889C>A	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	9.029	0.986755	0.18889	.	.	ENSG00000146463	ENST00000457946	.	.	.	5.18	-1.85	0.07784	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	-0.0487	1.9559	0.03376	0.4888:0.1835:0.1729:0.1547	.	.	.	.	T	623	.	.	P	+	1	0	ZMYM4	35631905	0.666000	0.27475	0.994000	0.49952	0.990000	0.78478	-0.302000	0.08221	0.016000	0.14998	0.585000	0.79938	CCA		0.393	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		10	665	1	0	9.31168e-06	9.31168e-06	0.00207751	10	665					A	35859318	C	A	35859318	2	1	121	1	0	0	0	0	0	0	0	1	17755	610	22	3		3	ZMYM4	1	35859318	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	489037	35859318	213391303	6	37864											
CCDC30	728621	broad.mit.edu	37	chr1	43047064	43047064	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcggaaattagaacatgctCataaagtctgtctcacagac	8	9	3	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:43047064C>A	ENST00000340612.4	+	7	1099	c.1099C>A	c.(1099-1101)Cat>Aat	p.H367N	CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N|CCDC30_ENST00000428554.2_Missense_Mutation_p.H367N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	367						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						AGAACATGCTCATAAAGTCTG	0.348																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1099-1101)Cat>Aat		coiled-coil domain containing 30							91	94	93					1																	43047064		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43047064C>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1099C>A	1.37:g.43047064C>A	ENSP00000340378:p.His367Asn					CCDC30_ENST00000340612.4_Missense_Mutation_p.H367N|CCDC30_ENST00000342022.4_Missense_Mutation_p.H367N|CCDC30_ENST00000390640.4_Missense_Mutation_p.H156N|CCDC30_ENST00000507855.1_Missense_Mutation_p.H156N	p.H367N			Q5VVM6	CCD30_HUMAN			15	2242	+			367					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1099C>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701346	0.30142	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.65	1.32	0.21799	.	0.550040	0.19977	N	0.101853	T	0.32194	0.0821	L	0.38838	1.175	0.09310	N	1	B;B;B	0.22003	0.002;0.0;0.063	B;B;B	0.15870	0.001;0.001;0.014	T	0.16070	-1.0415	10	0.24483	T	0.36	.	8.5805	0.33626	0.3756:0.5512:0.0:0.0732	.	367;151;156	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	N	367;156;367;367;156	ENSP00000397035:H367N;ENSP00000426711:H156N;ENSP00000340378:H367N;ENSP00000339280:H367N;ENSP00000375051:H156N	ENSP00000340378:H367N	H	+	1	0	CCDC30	42819651	0.497000	0.26067	0.064000	0.19789	0.955000	0.61496	0.970000	0.29383	0.377000	0.24735	0.650000	0.86243	CAT		0.348	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		14	683	1	0	8.00594e-06	8.00594e-06	0.00188799	14	683					A	43047064	C	A	43047064	3	1	121	1	0	0	0	0	1	0	0	0	2812	826	29	3	1125	3	CCDC30	1	43047064	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7187746	43047064	206203557	7	37865											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-													accagcatccctttggcaccTtttcctaccatggcggcggt					rs201148088		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aaafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335					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)	CTTTGGCACCTTTTCCTACCA	0.627																																						ENST00000372310.3																			0				endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22						c.(10-12)aafs		solute carrier family 6 (neurotransmitter transporter, glycine), member 9	Glycine(DB00145)						231	218	222					1																	44489938		2203	4300	6503	SO:0001589	frameshift_variant	6536					integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr1:44489938delT	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	ENST00000372310.3:c.12delA	1.37:g.44489938delT	ENSP00000361384:p.Lys4fs					SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN			2	177	-	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	335					A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Frame_Shift_Del	DEL	ENST00000372310.3	37	c.12delA	CCDS30695.1																																																																																				0.627	SLC6A9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022827.1	NM_201649		7	1490						7	1490	---	---	---	---	-	44489938	T	-	44489938	7	5	121	1	0	1	0	1	0	0	0	0	14741	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	1442874	44489938	204760683	8	37866											
ZCCHC11	23318	broad.mit.edu	37	chr1	52911509	52911509	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccaaaaagtttccttcCattgataaatgctttcatga	6	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:52911509C>A	ENST00000371544.3	-	24	4034	c.3772G>T	c.(3772-3774)Gga>Tga	p.G1258*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1258					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						AGTTTCCTTCCATTGATAAAT	0.294																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(3772-3774)Gga>Tga		zinc finger, CCHC domain containing 11							86	98	94					1																	52911509		2201	4295	6496	SO:0001587	stop_gained	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52911509C>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3772G>T	1.37:g.52911509C>A	ENSP00000360599:p.Gly1258*					ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.G1258*	p.G1258*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			24	4034	-			1258					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Nonsense_Mutation	SNP	ENST00000371544.3	37	c.3772G>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.174853|4.174853	0.78564|0.78564	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722;ENST00000528642|ENST00000474453	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.052143|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76948	.|0.4059	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74253	.|-0.3725	.|4	0.87932|.	D|.	0|.	.|.	20.1665|20.1665	0.98152|0.98152	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1258;1258;100;1187|107	.|.	ENSP00000257177:G1258X|.	G|W	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52684097|52684097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.466000|7.466000	0.80914|0.80914	2.770000|2.770000	0.95276|0.95276	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		10	732	1	0	5.50884e-06	5.50884e-06	0.00130912	10	732					A	52911509	C	A	52911509	4	1	121	1	0	0	0	0	0	1	0	0	17633	603	21	3	1193	3	ZCCHC11	1	52911509	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	8421571	52911509	196339112	9	37867											
LRRC7	57554	broad.mit.edu	37	chr1	70446077	70446077	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccagcctgaagttctggatCaaatacaaaatttgagggag	10	8	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:70446077C>A	ENST00000035383.5	+	7	643	c.613C>A	c.(613-615)Caa>Aaa	p.Q205K	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q210K|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	205						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.Q205K(1)		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						AGTTCTGGATCAAATACAAAA	0.328																																						ENST00000310961.5																			1	Substitution - Missense(1)	p.Q205K(1)	lung(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(628-630)Caa>Aaa		leucine rich repeat containing 7							162	167	165					1																	70446077		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70446077C>A		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.613C>A	1.37:g.70446077C>A	ENSP00000035383:p.Gln205Lys					LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q205K	p.Q210K			Q96NW7	LRRC7_HUMAN			10	1046	+			205					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.628C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679363	0.68042	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.23950	1.88;1.9	5.25	5.25	0.73442	.	0.059688	0.64402	D	0.000002	T	0.11153	0.0272	N	0.13168	0.305	0.80722	D	1	P	0.40197	0.706	B	0.43623	0.425	T	0.11299	-1.0593	10	0.25751	T	0.34	.	16.3726	0.83370	0.0:1.0:0.0:0.0	.	205	Q96NW7	LRRC7_HUMAN	K	210;205;28	ENSP00000309245:Q210K;ENSP00000035383:Q205K	ENSP00000035383:Q205K	Q	+	1	0	LRRC7	70218665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.238000	0.78173	2.608000	0.88229	0.650000	0.86243	CAA		0.328	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		22	938	1	0	4.16121e-05	4.16121e-05	0.00757574	22	938					A	70446077	C	A	70446077	3	1	121	1	0	0	0	0	1	0	0	0	9058	827	29	3	639	3	LRRC7	1	70446077	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	17534568	70446077	178804544	10	37868											
ABCA4	24	broad.mit.edu	37	chr1	94466426	94466426	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ctgaatggtgcccatacatcGaaaggcgccctttaccatga	9	12	0	2	rs61750654		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:94466426G>A	ENST00000370225.3	-	47	6531	c.6445C>T	c.(6445-6447)Cga>Tga	p.R2149*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*|ABCA4_ENST00000465352.1_5'Flank|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2149	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> L (in STGD1).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCATACATCGAAAGGCGCCC	0.562																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM990078	ABCA4	M	rs140142529	c.(6445-6447)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 4		G	stop/ARG	0,4406		0,0,2203	159	124	136		6445	5.8	1	1	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ABCA4	NM_000350.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2149/2274	94466426	1,13005	2203	4300	6503	SO:0001587	stop_gained	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94466426G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6445C>T	1.37:g.94466426G>A	ENSP00000359245:p.Arg2149*					ABCA4_ENST00000536513.1_Nonsense_Mutation_p.R419*|ABCA4_ENST00000535881.1_Nonsense_Mutation_p.R268*	p.R2149*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	47	6531	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2149		R -> L (in STGD1).	ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	c.6445C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	38	6.739809	0.97801	0.0	1.16E-4	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	.	.	.	5.84	5.84	0.93424	.	0.166997	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0922	0.59172	0.0:0.0:0.7351:0.2649	rs61750654	.	.	.	X	941;2149;419;268	.	ENSP00000359245:R2149X	R	-	1	2	ABCA4	94239014	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.696000	0.68287	2.779000	0.95612	0.655000	0.94253	CGA		0.562	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		48	325	0	0	0	2.47226e-05	0	48	325					A	94466426	G	A	94466426	4	1	121	1	0	0	0	0	0	1	0	0	34	1066	37	1	392	1	ABCA4	1	94466426	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	24020349	94466426	154784195	11	37869											
AGL	178	broad.mit.edu	37	chr1	100380997	100380997	+	Frame_Shift_Del	DEL	A	A	-													gaaagctttggagattgcagAaaaaaaattgcttggtcccc					rs28730708		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:100380997delA	ENST00000294724.4	+	31	4692	c.4214delA	c.(4213-4215)gaafs	p.E1405fs	AGL_ENST00000370161.2_Frame_Shift_Del_p.E1389fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.E1389fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.E1388fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.E1405fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1405					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)		GAGATTGCAGAAAAAAAATTG	0.328																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4213-4215)gafs		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase							80	87	84					1																	100380997		2203	4300	6503	SO:0001589	frameshift_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100380997delA	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.4214delA	1.37:g.100380997delA	ENSP00000294724:p.Glu1405fs					AGL_ENST00000361915.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.E1389fs|AGL_ENST00000370161.2_Frame_Shift_Del_p.E1389fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.E1388fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.E1405fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.E1405fs	p.E1405fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	31	4692	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1405					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Del	DEL	ENST00000294724.4	37	c.4214delA	CCDS759.1																																																																																				0.328	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		7	868						7	868	---	---	---	---	-	100380997	A	-	100380997	7	5	121	1	0	1	0	1	0	0	0	0	384	246	9	0	4401	0	AGL	1	100380997	Frame_Shift_Del	DEL	A	TCGA-XN-A8T3-01A-11D-A36O-08	5914571	100380997	148869624	12	37870											
NTNG1	22854	broad.mit.edu	37	chr1	107866960	107866960	+	Frame_Shift_Del	DEL	C	C	-													agtacccctgagctggcacaCccccctgagctgatgtttga							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:107866960delC	ENST00000370068.1	+	3	1149	c.303delC	c.(301-303)cacfs	p.H101fs	NTNG1_ENST00000370061.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370066.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370073.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370070.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370071.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370074.4_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370067.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370065.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370072.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000542803.1_Frame_Shift_Del_p.H101fs			Q9Y2I2	NTNG1_HUMAN	netrin G1	101	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGCTGGCACACCCCCCTGAGC	0.483																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(301-303)cafs		netrin G1							203	204	204					1																	107866960		2203	4300	6503	SO:0001589	frameshift_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107866960delC	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.303delC	1.37:g.107866960delC	ENSP00000359085:p.His101fs					NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370061.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370066.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370068.1_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370070.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370071.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370072.3_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370074.4_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370073.2_Frame_Shift_Del_p.H101fs|NTNG1_ENST00000370065.1_Frame_Shift_Del_p.H101fs	p.H101fs			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	930	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	101			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Frame_Shift_Del	DEL	ENST00000370068.1	37	c.303delC	CCDS44180.1																																																																																				0.483	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		7	1361						7	1361	---	---	---	---	-	107866960	C	-	107866960	7	5	121	1	0	1	0	1	0	0	0	0	10746	506	18	0	309	0	NTNG1	1	107866960	Frame_Shift_Del	DEL	C	TCGA-XN-A8T3-01A-11D-A36O-08	7485963	107866960	141383661	13	37871											
FNDC7	163479	broad.mit.edu	37	chr1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-													ttgaagcttactttctgtccAaaaaaaatatattcaggtaa							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		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)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65	66	66					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		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.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		8	522						8	522	---	---	---	---	-	109276138	A	-	109276138	7	5	121	1	0	1	0	1	0	0	0	0	5998	117	5	0	2162	0	FNDC7	1	109276138	Frame_Shift_Del	DEL	A	TCGA-XN-A8T3-01A-11D-A36O-08	1409178	109276138	139974483	14	37872											
MAGI3	260425	broad.mit.edu	37	chr1	114184571	114184571	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaatggcaactgtgtcctcGgtcacactcatgcagatgtt	9	11	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:114184571G>T	ENST00000307546.9	+	10	1474	c.1399G>T	c.(1399-1401)Ggt>Tgt	p.G467C	MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C|MAGI3_ENST00000369615.1_Missense_Mutation_p.G467C	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	492	Interaction with PTEN.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGTCCTCGGTCACACTCA	0.358																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(1399-1401)Ggt>Tgt		membrane associated guanylate kinase, WW and PDZ domain containing 3							171	152	158					1																	114184571		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114184571G>T	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.1399G>T	1.37:g.114184571G>T	ENSP00000304604:p.Gly467Cys					MAGI3_ENST00000369617.4_Missense_Mutation_p.G492C|MAGI3_ENST00000307546.9_Missense_Mutation_p.G467C|MAGI3_ENST00000369611.4_Missense_Mutation_p.G467C	p.G467C	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1461	+	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)	492			Interaction with PTEN.|PDZ 2.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1399G>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456418	0.84317	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.83317	0.5228	H	0.98918	4.37	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	0.89889	0.4036	10	0.87932	D	0	-28.5003	19.4992	0.95086	0.0:0.0:1.0:0.0	.	467;467;492	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	C	492;467;467;467	ENSP00000358630:G492C;ENSP00000304604:G467C;ENSP00000358628:G467C;ENSP00000358624:G467C	ENSP00000304604:G467C	G	+	1	0	MAGI3	113986094	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.420000	0.97426	2.689000	0.91719	0.655000	0.94253	GGT		0.358	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		11	593	1	0	5.50884e-06	5.50884e-06	0.00130912	11	593					T	114184571	G	T	114184571	3	4	121	1	0	0	0	0	1	0	0	0	9233	1116	39	3	1437	3	MAGI3	1	114184571	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4908433	114184571	135066050	15	37873											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	12	11	4	1	rs201025925		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597	514	540					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		13	1804	0	0	0	5.3912e-06	0	13	1804					T	152128689	C	T	152128689	3	4	121	1	0	0	0	0	1	0	0	0	13714	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	37944118	152128689	97121932	16	37874											
HRNR	388697	broad.mit.edu	37	chr1	152187633	152187633	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agacccatgctgaccatagcGggaagacgaacctgagctag	12	11	0	4			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152187633G>T	ENST00000368801.2	-	3	6547	c.6472C>A	c.(6472-6474)Cgc>Agc	p.R2158S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					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)			TGACCATAGCGGGAAGACGAA	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6472-6474)Cgc>Agc		hornerin							344	387	373					1																	152187633		2199	4280	6479	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187633G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6472C>A	1.37:g.152187633G>T	ENSP00000357791:p.Arg2158Ser					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R2158S	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6547	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2158					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6472C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.670	0.308182	0.10733	.	.	ENSG00000197915	ENST00000368801	T	0.02656	4.21	3.54	-4.02	0.04034	.	.	.	.	.	T	0.00300	0.0009	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42882	-0.9425	9	0.07482	T	0.82	.	6.7913	0.23701	0.0:0.4926:0.1584:0.349	.	2158	Q86YZ3	HORN_HUMAN	S	2158	ENSP00000357791:R2158S	ENSP00000357791:R2158S	R	-	1	0	HRNR	150454257	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.367000	0.01078	-0.998000	0.03446	-2.058000	0.00401	CGC		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		38	6391	1	0	2.0095e-06	2.0095e-06	0.000531746	38	6391					T	152187633	G	T	152187633	3	4	121	1	0	0	0	0	1	0	0	0	7389	1116	39	3	2084	3	HRNR	1	152187633	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	58944	152187633	97062988	17	37875											
CRNN	49860	broad.mit.edu	37	chr1	152383339	152383339	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacactaagaccaggaaTtccttgaattccacagtccc	5	12	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:152383339T>C	ENST00000271835.3	-	3	281	c.219A>G	c.(217-219)gaA>gaG	p.E73E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	73	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				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)			AGACCAGGAATTCCTTGAATT	0.537																																						ENST00000271835.3																			0				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						c.(217-219)gaA>gaG		cornulin							60	64	63					1																	152383339		2200	4299	6499	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383339T>C	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.219A>G	1.37:g.152383339T>C						RP1-91G5.3_ENST00000411804.1_RNA	p.E73E	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	281	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		73			EF-hand.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.219A>G	CCDS1010.1																																																																																				0.537	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		26	439	0	0	0	7.33532e-06	0	26	439					C	152383339	T	C	152383339	2	2	121	1	0	0	0	0	0	0	0	1	3901	1490	52	4		4	CRNN	1	152383339	Silent	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	195706	152383339	96867282	18	37876											
KIRREL	55243	broad.mit.edu	37	chr1	158057941	158057941	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcagcactttagtaaatgtcCactgtgagtagctgggaggg	13	7	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158057941C>A	ENST00000359209.6	+	7	980	c.913C>A	c.(913-915)Cac>Aac	p.H305N	KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N|KIRREL_ENST00000368172.1_Missense_Mutation_p.H103N			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	305					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.H305N(2)|p.H141N(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)					AGTAAATGTCCACTGTGAGTA	0.532											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368172.1																			3	Substitution - Missense(3)	p.H305N(2)|p.H141N(1)	lung(3)	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						c.(307-309)Cac>Aac		kin of IRRE like (Drosophila)							122	130	127					1																	158057941		2203	4300	6503	SO:0001583	missense	55243					integral to membrane		g.chr1:158057941C>A	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.913C>A	1.37:g.158057941C>A	ENSP00000352138:p.His305Asn		OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1790	KIRREL_ENST00000392272.2_Missense_Mutation_p.H202N|KIRREL_ENST00000368173.3_Missense_Mutation_p.H305N|KIRREL_ENST00000360089.4_Missense_Mutation_p.H141N|KIRREL_ENST00000359209.6_Missense_Mutation_p.H305N|KIRREL_ENST00000416935.2_Missense_Mutation_p.H205N	p.H103N			Q96J84	KIRR1_HUMAN			3	319	+	all_hematologic(112;0.0378)		305			Ig-like C2-type 1.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.307C>A	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875650	0.72180	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	5.44	5.44	0.79542	.	0.000000	0.45606	D	0.000341	T	0.07683	0.0193	L	0.45228	1.405	0.80722	D	1	P;P;P;P	0.44521	0.605;0.571;0.684;0.837	B;B;B;B	0.43536	0.288;0.312;0.423;0.346	T	0.16453	-1.0402	10	0.37606	T	0.19	-44.7724	16.7618	0.85514	0.0:1.0:0.0:0.0	.	205;141;103;305	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	N	141;305;202;305;205;103	ENSP00000353202:H141N;ENSP00000357155:H305N;ENSP00000376098:H202N;ENSP00000352138:H305N;ENSP00000389674:H205N;ENSP00000357154:H103N	ENSP00000352138:H305N	H	+	1	0	KIRREL	156324565	0.994000	0.37717	0.996000	0.52242	0.987000	0.75469	3.117000	0.50407	2.557000	0.86248	0.557000	0.71058	CAC		0.532	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		11	681	1	0	5.50884e-06	5.50884e-06	0.00130912	11	681					A	158057941	C	A	158057941	3	1	121	1	0	0	0	0	1	0	0	0	8354	594	21	3	939	3	KIRREL	1	158057941	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5674602	158057941	91192680	19	37877											
SPTA1	6708	broad.mit.edu	37	chr1	158592860	158592860	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcccagcgcttcagcagagcGgcataacgctcttcaatggc	10	14	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158592860G>T	ENST00000368147.4	-	43	6213	c.6033C>A	c.(6031-6033)gcC>gcA	p.A2011A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					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.A2011A(2)		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)					TCAGCAGAGCGGCATAACGCT	0.478																																						ENST00000368148.3																			2	Substitution - coding silent(2)	p.A2011A(2)	prostate(1)|lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gcC>gcA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							265	265	265					1																	158592860		1942	4142	6084	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592860G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6033C>A	1.37:g.158592860G>T						SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.A2008A	p.A2011A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6213	-	all_hematologic(112;0.0378)		2011					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.6033C>A	CCDS41423.1																																																																																				0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		13	1356	1	0	2.17888e-05	2.17888e-05	0.00444706	13	1356					T	158592860	G	T	158592860	2	4	121	1	0	0	0	0	0	0	0	1	15168	1103	39	3		3	SPTA1	1	158592860	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	534919	158592860	90657761	20	37878											
PYHIN1	149628	broad.mit.edu	37	chr1	158908227	158908227	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	attccagtcaaaggaataatCccatctaaaaagacgaaaca	5	9	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:158908227C>A	ENST00000368140.1	+	3	551	c.306C>A	c.(304-306)atC>atA	p.I102I	PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000392254.2_Silent_p.I102I	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	102					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)					AAGGAATAATCCCATCTAAAA	0.443																																						ENST00000368140.1																			0				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						c.(304-306)atC>atA		pyrin and HIN domain family, member 1							114	110	112					1																	158908227		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158908227C>A	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.306C>A	1.37:g.158908227C>A						PYHIN1_ENST00000368138.3_Silent_p.I93I|PYHIN1_ENST00000368135.4_Silent_p.I102I|PYHIN1_ENST00000392252.3_Silent_p.I93I|PYHIN1_ENST00000392254.2_Silent_p.I102I	p.I102I	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			3	551	+	all_hematologic(112;0.0378)		102					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.306C>A	CCDS1178.1																																																																																				0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		9	487	1	0	7.48243e-07	2.17888e-05	0.000207656	9	487					A	158908227	C	A	158908227	2	1	121	1	0	0	0	0	0	0	0	1	12915	845	30	3		3	PYHIN1	1	158908227	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	315367	158908227	90342394	21	37879											
C1orf110	339512	broad.mit.edu	37	chr1	162824970	162824970	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggggtctacgtccttagatGgattcacagaatctttctct	9	9	4	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:162824970G>T	ENST00000367910.1	-	4	614	c.494C>A	c.(493-495)cCa>cAa	p.P165Q	C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.2_Missense_Mutation_p.P164Q|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	165										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCCTTAGATGGATTCACAGA	0.473																																						ENST00000367912.1																			0				endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						c.(490-492)cCa>cAa		chromosome 1 open reading frame 110							266	255	259					1																	162824970		1912	4131	6043	SO:0001583	missense	339512							g.chr1:162824970G>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.494C>A	1.37:g.162824970G>T	ENSP00000356886:p.Pro165Gln					C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.P165Q|C1orf110_ENST00000367911.2_Missense_Mutation_p.P160Q	p.P164Q			Q86UF4	CA110_HUMAN			4	665	-			165					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.491C>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313572	0.40996	.	.	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.22	2.33	0.28932	.	0.264448	0.27331	N	0.019843	T	0.32466	0.0830	L	0.36672	1.1	0.31767	N	0.6326149999999999	D;D	0.55385	0.971;0.971	P;P	0.56042	0.79;0.79	T	0.26155	-1.0111	8	0.87932	D	0	-1.0E-4	6.5268	0.22305	0.221:0.0:0.779:0.0	.	164;165	Q86UF4-2;Q86UF4	.;CA110_HUMAN	Q	164;160;165	.	ENSP00000356886:P165Q	P	-	2	0	C1orf110	161091594	0.011000	0.17503	0.001000	0.08648	0.014000	0.08584	1.584000	0.36589	0.517000	0.28361	0.655000	0.94253	CCA		0.473	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		13	1087	1	0	5.50884e-06	5.50884e-06	0.00130912	13	1087					T	162824970	G	T	162824970	3	4	121	1	0	0	0	0	1	0	0	0	1990	1348	47	3	418	3	C1orf110	1	162824970	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	3916743	162824970	86425651	22	37880											
GPR25	2848	broad.mit.edu	37	chr1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-													cgccttccagggcctcagctTgctgctgctgctgctgacct							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	204	Poly-Leu.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724																																						ENST00000304244.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(610-615)ttg>t		G protein-coupled receptor 25				110,4002		8,94,1954						2.2	1			14	235,7753		17,201,3776	no	coding	GPR25	NM_005298.2		25,295,5730	A1A1,A1R,RR		2.9419,2.6751,2.8512				345,11755				SO:0001651	inframe_deletion	2848					integral to plasma membrane		g.chr1:200842776_200842778delTGC	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"GPCR / Class A : Orphans"	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.611_613delTGC	1.37:g.200842785_200842787delTGC	ENSP00000301917:p.Leu209del						p.LL208del	NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN			1	694_696	+			208			Poly-Leu.		A0AVJ5	In_Frame_Del	DEL	ENST00000304244.2	37	c.611_613delTGC	CCDS1405.1																																																																																				0.724	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		7	140						7	140	---	---	---	---	-	200842778	TGC	-	200842776	7	5	121	1	0	1	0	1	0	0	0	0	6712	1821	63	0	613	0	GPR25	1	200842776	In_Frame_Del	DEL	TGC	TCGA-XN-A8T3-01A-11D-A36O-08	38017806	200842776	48407845	23	37881											
OBSCN	84033	broad.mit.edu	37	chr1	228432014	228432014	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccaagatgatgtttGcaaaggagcagtcagtgcat	12	8	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:228432014G>T	ENST00000422127.1	+	11	3267	c.3223G>T	c.(3223-3225)Gca>Tca	p.A1075S	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1167S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1075	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGATGTTTGCAAAGGAGCA	0.572																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3499-3501)Gca>Tca		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							97	93	94					1																	228432014		2033	4185	6218	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432014G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3223G>T	1.37:g.228432014G>T	ENSP00000409493:p.Ala1075Ser					OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A1075S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1075S	p.A1167S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			12	3573	+		Prostate(94;0.0405)	105			Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3499G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	2.395	-0.338872	0.05243	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04551	3.6;3.6	3.69	2.78	0.32641	Immunoglobulin-like (1);	0.317255	0.27060	N	0.021125	T	0.04363	0.0120	L	0.39147	1.195	0.80722	D	1	P;B	0.37985	0.613;0.169	B;B	0.41466	0.358;0.049	T	0.40664	-0.9551	10	0.06891	T	0.86	.	6.4866	0.22093	0.3275:0.0:0.6725:0.0	.	1075;1075	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	1075	ENSP00000284548:A1075S;ENSP00000409493:A1075S	ENSP00000284548:A1075S	A	+	1	0	OBSCN	226498637	0.000000	0.05858	0.991000	0.47740	0.025000	0.11179	-0.621000	0.05559	0.757000	0.33036	0.455000	0.32223	GCA		0.572	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		42	428	1	0	1.23713e-20	2.47226e-05	3.83039e-18	42	428					T	228432014	G	T	228432014	3	4	121	1	0	0	0	0	1	0	0	0	10854	1319	46	3	3261	3	OBSCN	1	228432014	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	27589238	228432014	20818607	24	37882											
KMO	8564	broad.mit.edu	37	chr1	241714324	241714324	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caggaaaaaagtctgcaattCcctatgggacaaagtctcag	9	9	2	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:241714324C>A	ENST00000366559.4	+	4	603	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000366557.4_Missense_Mutation_p.P98T	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTCTGCAATTCCCTATGGGAC	0.413																																						ENST00000366559.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(292-294)Ccc>Acc		kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)							162	158	159					1																	241714324		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241714324C>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.292C>A	1.37:g.241714324C>A	ENSP00000355517:p.Pro98Thr					KMO_ENST00000366558.3_Missense_Mutation_p.P98T|KMO_ENST00000366557.4_Missense_Mutation_p.P98T|KMO_ENST00000484628.1_3'UTR	p.P98T	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		4	603	+	Ovarian(103;0.103)|all_lung(81;0.23)		98						Missense_Mutation	SNP	ENST00000366559.4	37	c.292C>A	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580937	0.65992	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.49432	0.78;0.78;0.78	6.17	6.17	0.99709	Monooxygenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.87456	2.885	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.977	T	0.72312	-0.4331	10	0.40728	T	0.16	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	98;98;98	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	T	98	ENSP00000355517:P98T;ENSP00000355516:P98T;ENSP00000355515:P98T	ENSP00000355515:P98T	P	+	1	0	KMO	239780947	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	2.444000	0.44890	2.941000	0.99782	0.655000	0.94253	CCC		0.413	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		11	675	1	0	4.3838e-07	9.31168e-06	0.00012363	11	675					A	241714324	C	A	241714324	3	1	121	1	0	0	0	0	1	0	0	0	8454	855	30	3	306	3	KMO	1	241714324	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	13282310	241714324	7536297	25	37883											
OR2M2	391194	broad.mit.edu	37	chr1	248344093	248344093	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cacatctgatcactccccaaCgcaggacaagatggtgtctg	9	13	3	2	rs149761766		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248344093C>T	ENST00000359682.2	+	1	806	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	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)|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)			CACTCCCCAACGCAGGACAAG	0.502																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(805-807)aCg>aTg		olfactory receptor, family 2, subfamily M, member 2		T	MET/THR	0,4406		0,0,2203	212	189	197		806	-4.1	0	1	dbSNP_134	197	1,8599	819.2+/-406.8	0,1,4299	no	missense	OR2M2	NM_001004688.1	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	269/348	248344093	1,13005	2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344093C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.806C>T	1.37:g.248344093C>T	ENSP00000352710:p.Thr269Met						p.T269M	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	806	+	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)		269					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.806C>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	t	1.263	-0.615211	0.03663	0.0	1.16E-4	ENSG00000198601	ENST00000359682	T	0.00123	8.7	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	M	0.70275	2.135	0.09310	N	1	B	0.28439	0.212	B	0.29598	0.104	T	0.38178	-0.9673	9	0.51188	T	0.08	.	10.6476	0.45630	0.2235:0.6609:0.0:0.1157	.	269	Q96R28	OR2M2_HUMAN	M	269	ENSP00000352710:T269M	ENSP00000352710:T269M	T	+	2	0	OR2M2	246410716	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.426000	0.00036	-3.968000	0.00086	-3.185000	0.00055	ACG		0.502	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		166	796	0	0	0	2.47226e-05	0	166	796					T	248344093	C	T	248344093	3	4	121	1	0	0	0	0	1	0	0	0	11052	536	19	1	808	1	OR2M2	1	248344093	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	6629769	248344093	906528	26	37884											
OR2T4	127074	broad.mit.edu	37	chr1	248524891	248524891	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggtgaaacctcatggacaaCatcacctggatggccagcca	10	12	2	1	rs200949727		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr1:248524891C>T	ENST00000366475.1	+	1	9	c.9C>T	c.(7-9)aaC>aaT	p.N3N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	3						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)			TCATGGACAACATCACCTGGA	0.468													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19293	0.0		0.0	False		,,,				2504	0.0					ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(7-9)aaC>aaT		olfactory receptor, family 2, subfamily T, member 4							71	68	69					1																	248524891		2203	4300	6503	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524891C>T	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.9C>T	1.37:g.248524891C>T							p.N3N	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	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)		3					Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.9C>T	CCDS31113.1																																																																																				0.468	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		41	283	0	0	0	1.13552e-05	0	41	283					T	248524891	C	T	248524891	2	4	121	1	0	0	0	0	0	0	0	1	11069	477	17	2		2	OR2T4	1	248524891	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	180798	248524891	725730	27	37885											
NT5C1B	93034	broad.mit.edu	37	chr2	18766145	18766145	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcagctggggcgacgcggGtggctggagcgagggctgcc	23	10	0	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:18766145G>T	ENST00000359846.2	-	5	615	c.538C>A	c.(538-540)Ccc>Acc	p.P180T	NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000304081.4_Missense_Mutation_p.P120T	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	180	Pro-rich.				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)				GGCGACGCGGGTGGCTGGAGC	0.716																																						ENST00000304081.4																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29						c.(358-360)Ccc>Acc		5'-nucleotidase, cytosolic IB							11	17	15					2																	18766145		2123	4096	6219	SO:0001583	missense	93034							g.chr2:18766145G>T	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.538C>A	2.37:g.18766145G>T	ENSP00000352904:p.Pro180Thr					NT5C1B_ENST00000359846.2_Missense_Mutation_p.P180T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P180T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.P180T	p.P120T	NM_033253.3	NP_150278.2					4	458	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)						B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	c.358C>A	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499307	0.12762	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.88741	-2.42	4.15	-7.42	0.01388	.	0.927161	0.08933	N	0.872669	T	0.69797	0.3151	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.12630	0.001;0.006;0.002;0.001;0.001;0.003;0.006;0.003	B;B;B;B;B;B;B;B	0.10450	0.001;0.003;0.001;0.001;0.001;0.005;0.003;0.005	T	0.57329	-0.7830	10	0.31617	T	0.26	-32.7382	0.5312	0.00629	0.3185:0.1133:0.2234:0.3448	.	163;197;120;163;122;120;180;180	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	T	180;122;120;180;197	ENSP00000412639:P122T	ENSP00000305979:P120T	P	-	1	0	NT5C1B-RDH14;NT5C1B	18629626	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.508000	0.06344	-1.893000	0.01106	-1.119000	0.02030	CCC		0.716	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			9	84	1	0	2.17888e-05	2.17888e-05	0.00444706	9	84					T	18766145	G	T	18766145	3	4	121	1	0	0	0	0	1	0	0	0	10728	1261	44	3	1318	3	NT5C1B	2	18766145	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		18766145	224433228	28	37886											
VRK2	7444	broad.mit.edu	37	chr2	58315553	58315553	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaatggtacctttaaaaagtCaactgtcctgcaattaggta	8	7	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:58315553C>A	ENST00000435505.2	+	9	1167	c.422C>A	c.(421-423)tCa>tAa	p.S141*	VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118*			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	141	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						TTTAAAAAGTCAACTGTCCTG	0.333																																						ENST00000435505.2																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						c.(421-423)tCa>tAa		vaccinia related kinase 2							133	138	136					2																	58315553		2203	4298	6501	SO:0001587	stop_gained	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58315553C>A	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.422C>A	2.37:g.58315553C>A	ENSP00000408002:p.Ser141*					VRK2_ENST00000340157.4_Nonsense_Mutation_p.S141*|VRK2_ENST00000417641.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000412104.2_Nonsense_Mutation_p.S141*|VRK2_ENST00000440705.2_Nonsense_Mutation_p.S118*	p.S141*			Q86Y07	VRK2_HUMAN			9	1167	+			141			Protein kinase.		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Nonsense_Mutation	SNP	ENST00000435505.2	37	c.422C>A	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419299	0.83559	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	.	.	.	5.63	2.31	0.28768	.	0.718459	0.14216	N	0.333731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-2.966	7.6074	0.28110	0.3729:0.5411:0.0:0.086	.	.	.	.	X	141;141;145;141;141;141;118	.	ENSP00000342381:S141X	S	+	2	0	VRK2	58169057	0.999000	0.42202	0.943000	0.38184	0.354000	0.29330	1.869000	0.39519	0.806000	0.34183	0.655000	0.94253	TCA		0.333	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296		13	906	1	0	1.49906e-05	1.49906e-05	0.0031734	13	906					A	58315553	C	A	58315553	4	1	121	1	0	0	0	0	0	1	0	0	17274	838	29	3	440	3	VRK2	2	58315553	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	39549408	58315553	184883820	29	37887											
B3GNT2	10678	broad.mit.edu	37	chr2	62449693	62449693	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacgggttttaacaacttgcCggacagatttaaagactttc	8	8	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:62449693C>A	ENST00000301998.4	+	2	590	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	113					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)			AACAACTTGCCGGACAGATTT	0.483																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(337-339)cCg>cAg		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							171	193	185					2																	62449693		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449693C>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"Beta 3-glycosyltransferases"	15629	protein-coding gene	gene with protein product		605581	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.338C>A	2.37:g.62449693C>A	ENSP00000305595:p.Pro113Gln					B3GNT2_ENST00000405767.1_Missense_Mutation_p.P113Q	p.P113Q	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	590	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		113					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.338C>A	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099982	0.76983	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.32753	1.44;1.44	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63594	-0.6602	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	113	Q9NY97	B3GN2_HUMAN	Q	113	ENSP00000305595:P113Q;ENSP00000384692:P113Q	ENSP00000305595:P113Q	P	+	2	0	B3GNT2	62303197	1.000000	0.71417	0.991000	0.47740	0.717000	0.41224	6.071000	0.71229	2.716000	0.92895	0.655000	0.94253	CCG		0.483	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		15	1276	1	0	4.3838e-07	9.31168e-06	0.00012363	15	1276					A	62449693	C	A	62449693	3	1	121	1	0	0	0	0	1	0	0	0	1258	652	23	3	340	3	B3GNT2	2	62449693	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4134140	62449693	180749680	30	37888											
KRCC1	51315	broad.mit.edu	37	chr2	88327535	88327536	+	Frame_Shift_Ins	INS	-	-	T													taagtcaatttcctcgcagcINSttttttttctcttatgctta							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:88327535_88327536insT	ENST00000347055.3	-	4	940_941	c.547_548insA	c.(547-549)agcfs	p.S183fs		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	183	Lys-rich.							p.S183fs*7(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTCCTCGCAGCTTTTTTTTCTC	0.411																																						ENST00000347055.3																			1	Deletion - Frameshift(1)	p.S183fs*7(1)	lung(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(547-549)ctgfs		lysine-rich coiled-coil 1																																				SO:0001589	frameshift_variant	51315							g.chr2:88327535_88327536insT	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.548dupA	2.37:g.88327543_88327543dupT	ENSP00000340083:p.Ser183fs						p.L183fs	NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN			4	940_941	-			183			Lys-rich.		Q3B7J7	Frame_Shift_Ins	INS	ENST00000347055.3	37	c.547_548insA	CCDS2000.1																																																																																				0.411	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618		9	887						9	887	---	---	---	---	T	88327536	-	T	88327535	7	5	121	1	0	1	1	0	0	0	0	0	8471	797	28	0	235	0	KRCC1	2	88327535	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	25877842	88327535	154871838	31	37889											
PTPN4	5775	broad.mit.edu	37	chr2	120692428	120692428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggttacgaccatcttcagttGgtcatttggtagaccatatg	10	8	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:120692428G>T	ENST00000263708.2	+	15	2020	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	417					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)	ATCTTCAGTTGGTCATTTGGT	0.388																																						ENST00000263708.2																			0				endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30						c.(1249-1251)Ggt>Tgt		protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	Alendronate(DB00630)						139	124	129					2																	120692428		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120692428G>T		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.1249G>T	2.37:g.120692428G>T	ENSP00000263708:p.Gly417Cys					PTPN4_ENST00000544261.1_Missense_Mutation_p.G50C	p.G417C	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN			15	2020	+			417					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1249G>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079925	0.94050	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.68479	-0.33;-0.33;-0.33	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81254	-0.1016	10	0.72032	D	0.01	.	20.3046	0.98621	0.0:0.0:1.0:0.0	.	417	P29074	PTN4_HUMAN	C	417;50;43	ENSP00000263708:G417C;ENSP00000445841:G50C;ENSP00000387457:G43C	ENSP00000263708:G417C	G	+	1	0	PTPN4	120408898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.847000	0.92166	2.878000	0.98634	0.650000	0.86243	GGT		0.388	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			12	556	1	0	5.01169e-05	5.01169e-05	0.00884117	12	556					T	120692428	G	T	120692428	3	4	121	1	0	0	0	0	1	0	0	0	12840	1348	47	3	1303	3	PTPN4	2	120692428	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	32364893	120692428	122506945	32	37890											
FAM123C	205147	broad.mit.edu	37	chr2	131521308	131521308	+	Frame_Shift_Del	DEL	G	G	-													agggcctggcctcagatgcaGggggggcgacagtttgctca							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:131521308delG	ENST00000423981.1	+	2	1773	c.1663delG	c.(1663-1665)gggfs	p.G556fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.G556fs	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	556					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CTCAGATGCAGGGGGGGCGAC	0.711																																						ENST00000423981.1																			0											c.(1663-1665)ggfs		APC membrane recruitment protein 3							10	12	11					2																	131521308		2168	4256	6424	SO:0001589	frameshift_variant	205147							g.chr2:131521308delG	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.1663delG	2.37:g.131521308delG	ENSP00000392700:p.Gly556fs					AMER3_ENST00000321420.4_Frame_Shift_Del_p.G556fs	p.G556fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1773	+								B7ZLH6	Frame_Shift_Del	DEL	ENST00000423981.1	37	c.1663delG	CCDS2164.1																																																																																				0.711	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		10	82						10	82	---	---	---	---	-	131521308	G	-	131521308	7	5	121	1	0	1	0	1	0	0	0	0	5445	1000	35	0	1665	0	FAM123C	2	131521308	Frame_Shift_Del	DEL	G	TCGA-XN-A8T3-01A-11D-A36O-08	10828880	131521308	111678065	33	37891											
SPOPL	339745	broad.mit.edu	37	chr2	139326586	139326586	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tttagtagcagaagcctttcGagcactagcatctgcacagt	9	10	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:139326586G>T	ENST00000280098.4	+	11	1494	c.1115G>T	c.(1114-1116)cGa>cTa	p.R372L	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	372					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)		GAAGCCTTTCGAGCACTAGCA	0.423																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(1114-1116)cGa>cTa		speckle-type POZ protein-like							260	260	260					2																	139326586		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139326586G>T		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.1115G>T	2.37:g.139326586G>T	ENSP00000280098:p.Arg372Leu						p.R372L	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	11	1494	+			372						Missense_Mutation	SNP	ENST00000280098.4	37	c.1115G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933375	0.92458	.	.	ENSG00000144228	ENST00000280098	T	0.71461	-0.57	5.97	5.97	0.96955	.	0.058159	0.64402	D	0.000001	T	0.79953	0.4535	L	0.58810	1.83	0.80722	D	1	D	0.58268	0.982	P	0.57057	0.812	T	0.76812	-0.2821	9	.	.	.	-11.9914	20.428	0.99075	0.0:0.0:1.0:0.0	.	372	Q6IQ16	SPOPL_HUMAN	L	372	ENSP00000280098:R372L	.	R	+	2	0	SPOPL	139043056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	CGA		0.423	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			28	1377	1	0	8.34094e-07	1.15919e-05	0.000228692	28	1377					T	139326586	G	T	139326586	3	4	121	1	0	0	0	0	1	0	0	0	15137	1058	37	3	1153	3	SPOPL	2	139326586	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	7805278	139326586	103872787	34	37892											
LY75	4065	broad.mit.edu	37	chr2	160667045	160667045	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attttaactcaccatgttttGaacacaattttttggcctct	4	9	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160667045G>T	ENST00000263636.4	-	32	4718	c.4691C>A	c.(4690-4692)tCa>tAa	p.S1564*	LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1564	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)		ACCATGTTTTGAACACAATTT	0.338																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(4690-4692)tCa>tAa		lymphocyte antigen 75							140	148	146					2																	160667045		2203	4300	6503	SO:0001587	stop_gained	4065							g.chr2:160667045G>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4691C>A	2.37:g.160667045G>T	ENSP00000263636:p.Ser1564*					LY75-CD302_ENST00000504764.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000553424.1_Nonsense_Mutation_p.S1564*|LY75_ENST00000554112.1_Nonsense_Mutation_p.S1564*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.S1564*	p.S1564*	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	32	4718	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Nonsense_Mutation	SNP	ENST00000263636.4	37	c.4691C>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	37	6.470570	0.97594	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	.	.	.	4.91	0.506	0.16961	.	1.146100	0.07019	U	0.826519	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	3.6309	3.151	0.06488	0.0904:0.125:0.3384:0.4462	.	.	.	.	X	1564	.	ENSP00000423463:S1564X	S	-	2	0	LY75;LY75-CD302	160375291	0.054000	0.20591	0.013000	0.15412	0.112000	0.19704	0.597000	0.24059	0.166000	0.19597	0.491000	0.48974	TCA		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			14	641	1	0	9.31168e-06	9.31168e-06	0.00207751	14	641					T	160667045	G	T	160667045	4	4	121	1	0	0	0	0	0	1	0	0	9138	1294	45	3	493	3	LY75	2	160667045	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	21340459	160667045	82532328	35	37893											
ITGB6	3694	broad.mit.edu	37	chr2	160964209	160964209	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccgtttgccacttggcttttGatcgttctgcttcaaatttg	8	10	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:160964209G>T	ENST00000283249.2	-	14	2486	c.2249C>A	c.(2248-2250)tCa>tAa	p.S750*	ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	750	Interaction with HAX1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CTTGGCTTTTGATCGTTCTGC	0.473																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2248-2250)tCa>tAa		integrin, beta 6							165	157	160					2																	160964209		2203	4300	6503	SO:0001587	stop_gained	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160964209G>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.2249C>A	2.37:g.160964209G>T	ENSP00000283249:p.Ser750*					ITGB6_ENST00000409872.1_Nonsense_Mutation_p.S750*|ITGB6_ENST00000428609.2_Nonsense_Mutation_p.S708*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.S643*	p.S750*			P18564	ITB6_HUMAN			14	2486	-			750			Interaction with HAX1.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	ENST00000283249.2	37	c.2249C>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	G	41	8.884371	0.98990	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	.	.	.	5.79	5.79	0.91817	.	0.143292	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4254	0.44375	0.1438:0.0:0.8562:0.0	.	.	.	.	X	750;708;643;750	.	ENSP00000283249:S750X	S	-	2	0	ITGB6	160672455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.488000	0.73637	2.739000	0.93911	0.655000	0.94253	TCA		0.473	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		16	608	1	0	1.64113e-05	1.64113e-05	0.00345808	16	608					T	160964209	G	T	160964209	4	4	121	1	0	0	0	0	0	1	0	0	7929	1294	45	3	125	3	ITGB6	2	160964209	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	297164	160964209	82235164	36	37894											
SSB	6741	broad.mit.edu	37	chr2	170657516	170657516	+	Frame_Shift_Del	DEL	A	A	-													agatggctgccctggaggccAaaatctgtcatcaaattgag							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:170657516delA	ENST00000409333.1	+	2	293	c.46delA	c.(46-48)aaafs	p.K16fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K16fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	16	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTGGAGGCCAAAATCTGTCA	0.333																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(46-48)aafs		Sjogren syndrome antigen B (autoantigen La)							78	86	83					2																	170657516		2203	4300	6503	SO:0001589	frameshift_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170657516delA		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.46delA	2.37:g.170657516delA	ENSP00000386636:p.Lys16fs					SSB_ENST00000260956.4_Frame_Shift_Del_p.K16fs	p.K16fs			P05455	LA_HUMAN			2	293	+			16			HTH La-type RNA-binding.		Q15367|Q53XJ4	Frame_Shift_Del	DEL	ENST00000409333.1	37	c.46delA	CCDS2237.1																																																																																				0.333	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		7	536						7	536	---	---	---	---	-	170657516	A	-	170657516	7	5	121	1	0	1	0	1	0	0	0	0	15230	131	5	0	48	0	SSB	2	170657516	Frame_Shift_Del	DEL	A	TCGA-XN-A8T3-01A-11D-A36O-08	9693307	170657516	72541857	37	37895											
TTN	7273	broad.mit.edu	37	chr2	179583118	179583118	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggcagctgtactgtgCataatcctctattgtgctct	8	10	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179583118C>T	ENST00000591111.1	-	83	23988	c.23764G>A	c.(23764-23766)Gca>Aca	p.A7922T	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8239T			Q8WZ42	TITIN_HUMAN	titin	12113	Ig-like 61.				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)			CTGTACTGTGCATAATCCTCT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(24715-24717)Gca>Aca		titin							138	132	134					2																	179583118		1887	4115	6002	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583118C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23764G>A	2.37:g.179583118C>T	ENSP00000465570:p.Ala7922Thr					TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6995T|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7922T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.A8239T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	24939	-			7922			Ig-like 65.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.24715G>A		.	.	.	.	.	.	.	.	.	.	C	14.74	2.626923	0.46840	.	.	ENSG00000155657	ENST00000342992	T	0.45276	0.9	6.16	6.16	0.99307	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55433	0.1920	M	0.79926	2.475	0.80722	D	1	B	0.31459	0.324	B	0.36418	0.224	T	0.56823	-0.7915	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7922	Q8WZ42	TITIN_HUMAN	T	6995	ENSP00000343764:A6995T	ENSP00000343764:A6995T	A	-	1	0	TTN	179291363	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.607000	0.61133	2.937000	0.99478	0.650000	0.86243	GCA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	272	0	0	0	2.47226e-05	0	45	272					T	179583118	C	T	179583118	3	4	121	1	0	0	0	0	1	0	0	0	16789	710	25	2	79926	2	TTN	2	179583118	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	8925602	179583118	63616255	38	37896											
TTN	7273	broad.mit.edu	37	chr2	179598474	179598474	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccattggaaaagctcattttGatttttccgtcttctctgat	6	9	3	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:179598474G>T	ENST00000591111.1	-	51	14915	c.14691C>A	c.(14689-14691)atC>atA	p.I4897I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I3970I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.I5214I			Q8WZ42	TITIN_HUMAN	titin	12289	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCATTTTGATTTTTCCGT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15640-15642)atC>atA		titin							202	191	195					2																	179598474		1904	4138	6042	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598474G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14691C>A	2.37:g.179598474G>T						TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.I4897I|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.I5214I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		53	15866	-			4897			Ig-like 32.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15642C>A																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	744	1	0	5.49717e-05	5.49717e-05	0.00966016	20	744					T	179598474	G	T	179598474	2	4	121	1	0	0	0	0	0	0	0	1	16789	1280	45	3		3	TTN	2	179598474	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	15356	179598474	63600899	39	37897											
STAT1	6772	broad.mit.edu	37	chr2	191847210	191847210	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cttctgaaagctgagcccatCgtgcacatggtggagtcagg	13	10	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:191847210C>T	ENST00000361099.3	-	18	1868	c.1481G>A	c.(1480-1482)cGa>cAa	p.R494Q	STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	494					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)			CTGAGCCCATCGTGCACATGG	0.463																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1480-1482)cGa>cAa		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						101	101	101					2																	191847210		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191847210C>T		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.1481G>A	2.37:g.191847210C>T	ENSP00000354394:p.Arg494Gln					STAT1_ENST00000409465.1_Missense_Mutation_p.R494Q|STAT1_ENST00000392322.3_Missense_Mutation_p.R494Q|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Missense_Mutation_p.R496Q	p.R494Q	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		18	1868	-			494					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1481G>A	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112096	0.37242	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.31	3.15	0.36227	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.310219	0.34932	N	0.003580	T	0.61986	0.2391	L	0.31664	0.95	0.18873	N	0.999986	B;B	0.20780	0.048;0.005	B;B	0.17098	0.016;0.017	T	0.41945	-0.9480	10	0.12766	T	0.61	-3.6255	10.1437	0.42751	0.0:0.7608:0.0:0.2392	.	494;494	P42224-2;P42224	.;STAT1_HUMAN	Q	494;494;494;496	ENSP00000354394:R494Q;ENSP00000386244:R494Q;ENSP00000376136:R494Q;ENSP00000376137:R496Q	ENSP00000354394:R494Q	R	-	2	0	STAT1	191555455	0.002000	0.14202	0.932000	0.37286	0.981000	0.71138	0.290000	0.18975	1.304000	0.44892	0.655000	0.94253	CGA		0.463	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		44	465	0	0	0	1.39061e-05	0	44	465					T	191847210	C	T	191847210	3	4	121	1	0	0	0	0	1	0	0	0	15316	884	31	1	807	1	STAT1	2	191847210	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	12248736	191847210	51352163	40	37898											
OBSL1	23363	broad.mit.edu	37	chr2	220421218	220421218	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggccgtgctccctgcccGcaaagtcacggtccctgcat	11	16	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:220421218G>A	ENST00000404537.1	-	13	4350	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1432	Ig-like 12.				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)		CTCCCTGCCCGCAAAGTCACG	0.607																																						ENST00000404537.1																			0											c.(4294-4296)Cgg>Tgg		obscurin-like 1							93	99	97					2																	220421218		2060	4187	6247	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220421218G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4294C>T	2.37:g.220421218G>A	ENSP00000385636:p.Arg1432Trp					OBSL1_ENST00000603926.1_Missense_Mutation_p.R1432W|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000265317.5_Missense_Mutation_p.R331W|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1340W	p.R1432W	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	13	4350	-		Renal(207;0.0376)	1432			Ig-like 12.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.4294C>T	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.807786	0.31961	.	.	ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317	T;T;T	0.68624	-0.34;3.52;3.52	4.51	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79269	0.4417	M	0.79926	2.475	0.09310	N	0.999997	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;P;D;D	0.76071	0.987;0.849;0.932;0.953	T	0.69109	-0.5232	9	0.66056	D	0.02	.	5.8434	0.18647	0.0932:0.0:0.5879:0.3188	.	239;1433;1432;331	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	W	1432;1340;331	ENSP00000385636:R1432W;ENSP00000362983:R1340W;ENSP00000265317:R331W	ENSP00000265317:R331W	R	-	1	2	OBSL1	220129462	0.925000	0.31364	0.018000	0.16275	0.049000	0.14656	1.813000	0.38962	2.347000	0.79759	0.491000	0.48974	CGG		0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			8	651	0	0	0	2.17888e-05	0	8	651					A	220421218	G	A	220421218	3	1	121	1	0	0	0	0	1	0	0	0	10855	1086	38	1	1455	1	OBSL1	2	220421218	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	28574008	220421218	22778155	41	37899											
PSMD1	5707	broad.mit.edu	37	chr2	231937111	231937111	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactaatacgggtactgttcCgggatcagagaaagacaggt	12	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:231937111C>A	ENST00000308696.6	+	7	1025	c.863C>A	c.(862-864)cCg>cAg	p.P288Q	PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q|PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	288					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.P288Q(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)	GGTACTGTTCCGGGATCAGAG	0.403																																						ENST00000308696.6																			1	Substitution - Missense(1)	p.P288Q(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(862-864)cCg>cAg		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						111	115	113					2																	231937111		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231937111C>A	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.863C>A	2.37:g.231937111C>A	ENSP00000309474:p.Pro288Gln					PSMD1_ENST00000373635.4_Missense_Mutation_p.P288Q|PSMD1_ENST00000409643.1_Missense_Mutation_p.P288Q	p.P288Q	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	7	1025	+		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)	288					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.863C>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655523	0.88056	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.98	5.98	0.97165	Armadillo-type fold (1);	0.140827	0.64402	D	0.000003	T	0.59824	0.2222	L	0.48986	1.54	0.80722	D	1	B;B	0.28178	0.002;0.202	B;B	0.30251	0.006;0.113	T	0.53995	-0.8359	9	0.15952	T	0.53	-2.5112	20.4581	0.99154	0.0:1.0:0.0:0.0	.	288;288	Q99460;Q99460-2	PSMD1_HUMAN;.	Q	288	.	ENSP00000309474:P288Q	P	+	2	0	PSMD1	231645355	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	7.818000	0.86416	2.835000	0.97688	0.650000	0.86243	CCG		0.403	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			10	762	1	0	1.12685e-05	1.12685e-05	0.00245395	10	762					A	231937111	C	A	231937111	3	1	121	1	0	0	0	0	1	0	0	0	12739	652	23	3	889	3	PSMD1	2	231937111	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	11515893	231937111	11262262	42	37900											
HDLBP	3069	broad.mit.edu	37	chr2	242187757	242187757	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gattagatccttggtacgctCattttcctaaaaatacaatt	5	8	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr2:242187757C>A	ENST00000391975.1	-	13	1746	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000476807.1_5'UTR	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	507	KH 5. {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)		TTGGTACGCTCATTTTCCTAA	0.463																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1519-1521)Gag>Tag		high density lipoprotein binding protein							113	108	110					2																	242187757		2203	4300	6503	SO:0001587	stop_gained	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242187757C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1519G>T	2.37:g.242187757C>A	ENSP00000375836:p.Glu507*					HDLBP_ENST00000391976.2_Nonsense_Mutation_p.E507*|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.E474*|HDLBP_ENST00000310931.4_Nonsense_Mutation_p.E507*|HDLBP_ENST00000476807.1_5'UTR	p.E507*	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	13	1746	-		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)	507			KH 5.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Nonsense_Mutation	SNP	ENST00000391975.1	37	c.1519G>T	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.954687|9.954687	0.99304|0.99304	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.56958|.	D|.	0.05|.	-40.5689|-40.5689	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	507;507;507;474;16|315	.|.	ENSP00000312042:E507X|.	E|X	-|-	1|2	0|2	HDLBP|HDLBP	241836430|241836430	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.978000|0.978000	0.69477|0.69477	7.755000|7.755000	0.85180|0.85180	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.463	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		13	471	1	0	2.31682e-05	2.31682e-05	0.00456484	13	471					A	242187757	C	A	242187757	4	1	121	1	0	0	0	0	0	1	0	0	7055	835	29	3	2351	3	HDLBP	2	242187757	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	10250646	242187757	1011616	43	37901											
C3orf32	51066	broad.mit.edu	37	chr3	8669466	8669466	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccgcagcaggatgggcaccGcacctgcagacacaccactg	11	16	0	1	rs377451237		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:8669466G>A	ENST00000317371.4	-	15	1751	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W|SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W|SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	176	Cys-rich.					cytoplasm (GO:0005737)											GATGGGCACCGCACCTGCAGA	0.662																																						ENST00000317371.4																			0											c.(526-528)Cgg>Tgg		ssu-2 homolog (C. elegans)		G	TRP/ARG	0,4406		0,0,2203	47	43	44		526	-5.2	0	3		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf32	NM_015931.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	176/354	8669466	1,13005	2203	4300	6503	SO:0001583	missense	51066							g.chr3:8669466G>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.526C>T	3.37:g.8669466G>A	ENSP00000324551:p.Arg176Trp					SSUH2_ENST00000544814.1_Missense_Mutation_p.R198W|SSUH2_ENST00000415132.1_Missense_Mutation_p.R176W|SSUH2_ENST00000341795.3_Missense_Mutation_p.R176W	p.R176W							15	1751	-								A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.526C>T	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086021	0.36855	0.0	1.16E-4	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.49720	0.79;0.79;0.77;0.79	5.36	-5.21	0.02815	.	0.285278	0.35870	N	0.002939	T	0.61236	0.2331	M	0.74881	2.28	0.09310	N	1	D;D	0.71674	0.998;0.998	P;P	0.62298	0.9;0.9	T	0.66027	-0.6025	10	0.72032	D	0.01	-10.8102	17.9076	0.88923	0.0:0.0:0.7685:0.2315	.	198;176	F5H2S5;Q9Y2M2	.;CC032_HUMAN	W	176;176;176;198	ENSP00000339150:R176W;ENSP00000324551:R176W;ENSP00000410757:R176W;ENSP00000439378:R198W	ENSP00000324551:R176W	R	-	1	2	C3orf32	8644466	0.769000	0.28531	0.000000	0.03702	0.001000	0.01503	0.143000	0.16115	-0.658000	0.05366	-0.467000	0.05162	CGG		0.662	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		29	180	0	0	0	9.21846e-06	0	29	180					A	8669466	G	A	8669466	3	1	121	1	0	0	0	0	1	0	0	0	2229	1086	38	1	555	1	C3orf32	3	8669466	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		8669466	189352964	44	37902											
THUMPD3	25917	broad.mit.edu	37	chr3	9416208	9416208	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actttgctataggttcttttGaacatccatgataatgaagt	7	6	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:9416208G>T	ENST00000345094.3	+	5	1150	c.816G>T	c.(814-816)ttG>ttT	p.L272F	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	272	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		AGGTTCTTTTGAACATCCATG	0.393																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(814-816)ttG>ttT		THUMP domain containing 3							160	150	153					3																	9416208		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9416208G>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.816G>T	3.37:g.9416208G>T	ENSP00000339532:p.Leu272Phe					SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L272F|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L272F	p.L272F	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	5	1150	+	Medulloblastoma(99;0.227)		272			THUMP.		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.816G>T	CCDS2573.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.68|16.68|16.68	3.190198|3.190198|3.190198	0.58017|0.58017|0.58017	.|.|.	.|.|.	ENSG00000134077|ENSG00000134077|ENSG00000134077	ENST00000416603|ENST00000452837;ENST00000345094;ENST00000515662|ENST00000441127	.|T;T;T|.	.|0.52526|.	.|0.66;0.66;0.66|.	5.57|5.57|5.57	4.7|4.7|4.7	0.59300|0.59300|0.59300	.|THUMP (3);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.77624|.	.|0.4158|.	M|M|M	0.88570|0.88570|0.88570	2.965|2.965|2.965	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|D|.	.|0.76494|.	.|0.999|.	.|D|.	.|0.83275|.	.|0.996|.	.|T|.	.|0.80111|.	.|-0.1519|.	.|10|.	.|0.40728|.	.|T|.	.|0.16|.	-16.9958|-16.9958|-16.9958	10.3831|10.3831|10.3831	0.44123|0.44123|0.44123	0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0|0.0738:0.1354:0.7908:0.0	.|.|.	.|272|.	.|Q9BV44|.	.|THUM3_HUMAN|.	X|F|L	105|272|129	.|ENSP00000395893:L272F;ENSP00000339532:L272F;ENSP00000424064:L272F|.	.|ENSP00000339532:L272F|.	E|L|X	+|+|+	1|3|2	0|2|2	THUMPD3|THUMPD3|THUMPD3	9391208|9391208|9391208	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.698000|0.698000|0.698000	0.40448|0.40448|0.40448	1.299000|1.299000|1.299000	0.33424|0.33424|0.33424	1.347000|1.347000|1.347000	0.45714|0.45714|0.45714	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAA|TTG|TGA		0.393	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		24	670	1	0	9.93527e-08	9.21846e-06	2.88022e-05	24	670					T	9416208	G	T	9416208	3	4	121	1	0	0	0	0	1	0	0	0	15936	1281	45	3	830	3	THUMPD3	3	9416208	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	746742	9416208	188606222	45	37903											
TRANK1	9881	broad.mit.edu	37	chr3	36897208	36897208	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaggcagtcctccctttGgtcattttgggccatatttc	9	10	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:36897208G>T	ENST00000429976.2	-	12	4120	c.3873C>A	c.(3871-3873)acC>acA	p.T1291T	TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000301807.6_Silent_p.T741T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1291							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						TCCTCCCTTTGGTCATTTTGG	0.473																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(2221-2223)acC>acA		tetratricopeptide repeat and ankyrin repeat containing 1							199	195	197					3																	36897208		1930	4148	6078	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36897208G>T	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.3873C>A	3.37:g.36897208G>T						TRANK1_ENST00000428977.2_Silent_p.T741T|TRANK1_ENST00000429976.2_Silent_p.T1291T	p.T741T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	4120	-			1291					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.2223C>A	CCDS46789.2																																																																																				0.473	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		12	853	1	0	1.49906e-05	1.49906e-05	0.0031734	12	853					T	36897208	G	T	36897208	2	4	121	1	0	0	0	0	0	0	0	1	16507	1335	47	3		3	TRANK1	3	36897208	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	27481000	36897208	161125222	46	37904											
SCN5A	6331	broad.mit.edu	37	chr3	38645288	38645288	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ggtcgcctgcccccagtaatGagaccaccccattgcagtcc	9	17	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:38645288G>T	ENST00000333535.4	-	12	1954	c.1805C>A	c.(1804-1806)tCa>tAa	p.S602*	SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	602					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)	CCCCAGTAATGAGACCACCCC	0.657																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1804-1806)tCa>tAa		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						69	73	72					3																	38645288		2006	4186	6192	SO:0001587	stop_gained	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645288G>T	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.1805C>A	3.37:g.38645288G>T	ENSP00000328968:p.Ser602*					SCN5A_ENST00000455624.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.S602*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.S602*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.S602*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.S602*	p.S602*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	12	1998	-	Medulloblastoma(35;0.163)		602					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	ENST00000333535.4	37	c.1805C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	39	7.306943	0.98200	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	.	.	.	4.18	4.18	0.49190	.	0.309913	0.31312	N	0.007876	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6938	0.85329	0.0:0.0:1.0:0.0	.	.	.	.	X	602	.	ENSP00000328968:S602X	S	-	2	0	SCN5A	38620292	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.397000	0.97276	2.164000	0.68074	0.561000	0.74099	TCA		0.657	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		13	584	1	0	5.01169e-05	5.01169e-05	0.00884117	13	584					T	38645288	G	T	38645288	4	4	121	1	0	0	0	0	0	1	0	0	13972	1294	45	3	4313	3	SCN5A	3	38645288	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1748080	38645288	159377142	47	37905											
CCBP2	1238	broad.mit.edu	37	chr3	42906734	42906734	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccgcaggccagggccGggctttaaaaatagctgcag	15	11	0	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:42906734G>T	ENST00000422265.1	+	3	915	c.740G>T	c.(739-741)cGg>cTg	p.R247L	ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	247					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGCCAGGGCCGGGCTTTAAAA	0.527																																						ENST00000422265.1																			0											c.(739-741)cGg>cTg		atypical chemokine receptor 2							121	118	119					3																	42906734		2203	4300	6503	SO:0001583	missense	1238							g.chr3:42906734G>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.740G>T	3.37:g.42906734G>T	ENSP00000416996:p.Arg247Leu					ACKR2_ENST00000442925.1_Missense_Mutation_p.R247L|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.R247L	p.R247L	NM_001296.4	NP_001287.2					3	915	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Missense_Mutation	SNP	ENST00000422265.1	37	c.740G>T	CCDS2706.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735230	0.48939	.	.	ENSG00000144648	ENST00000442925;ENST00000422265;ENST00000273145	T;T;T	0.44881	0.91;0.91;0.91	4.49	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.442477	0.16852	N	0.196877	T	0.59335	0.2186	M	0.88906	2.99	0.80722	D	1	D	0.60160	0.987	P	0.56398	0.797	T	0.62163	-0.6912	9	.	.	.	.	5.7864	0.18336	0.2999:0.0:0.7001:0.0	.	247	O00590	CCBP2_HUMAN	L	247	ENSP00000396150:R247L;ENSP00000416996:R247L;ENSP00000273145:R247L	.	R	+	2	0	CCBP2	42881738	0.030000	0.19436	0.997000	0.53966	0.455000	0.32408	0.934000	0.28910	1.114000	0.41781	0.563000	0.77884	CGG		0.527	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		12	774	1	0	9.31168e-06	9.31168e-06	0.00207751	12	774					T	42906734	G	T	42906734	3	4	121	1	0	0	0	0	1	0	0	0	2741	1116	39	3	742	3	CCBP2	3	42906734	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4261446	42906734	155115696	48	37906											
CCRL2	9034	broad.mit.edu	37	chr3	46450404	46450404	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcaagagcagctacaatctGgacaaaagtgttcacatcac	8	10	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:46450404G>T	ENST00000399036.3	+	2	1186	c.834G>T	c.(832-834)ctG>ctT	p.L278L	CCRL2_ENST00000400880.3_Silent_p.L278L|CCRL2_ENST00000357392.4_Silent_p.L290L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Silent_p.L278L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	278					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GCTACAATCTGGACAAAAGTG	0.458																																						ENST00000399036.3																			0											c.(832-834)ctG>ctT									238	248	244					3																	46450404		2171	4261	6432	SO:0001819	synonymous_variant	0							g.chr3:46450404G>T	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"GPCR / Class A : Chemokine receptors : Atypical"	1612	protein-coding gene	gene with protein product	"atypical chemokine receptor 5"	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.834G>T	3.37:g.46450404G>T						ACKR5_ENST00000357392.4_Silent_p.L290L|ACKR5_ENST00000400882.2_Silent_p.L278L|ACKR5_ENST00000400880.3_Silent_p.L278L	p.L278L	NM_003965.4	NP_003956.2					2	1186	+								B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	ENST00000399036.3	37	c.834G>T	CCDS43079.1																																																																																				0.458	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			19	1672	1	0	3.07112e-06	3.07112e-06	0.000789711	19	1672					T	46450404	G	T	46450404	2	4	121	1	0	0	0	0	0	0	0	1	2959	1335	47	3		3	CCRL2	3	46450404	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	3543670	46450404	151572026	49	37907											
DNAH1	25981	broad.mit.edu	37	chr3	52398935	52398935	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctctggcatcgtgtcCgacctgtttcccaccatcaa	6	16	3	0	rs199597694		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:52398935C>A	ENST00000420323.2	+	34	5679	c.5418C>A	c.(5416-5418)tcC>tcA	p.S1806S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1806					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)		GCATCGTGTCCGACCTGTTTC	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(5416-5418)tcC>tcA		dynein, axonemal, heavy chain 1							83	89	87					3																	52398935		2158	4256	6414	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52398935C>A	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.5418C>A	3.37:g.52398935C>A							p.S1806S	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	34	5679	+			1806					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5418C>A	CCDS46842.1																																																																																				0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		11	363	1	0	9.31168e-06	9.31168e-06	0.00207751	11	363					A	52398935	C	A	52398935	2	1	121	1	0	0	0	0	0	0	0	1	4613	639	23	3		3	DNAH1	3	52398935	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5948531	52398935	145623495	50	37908											
PDZRN3	23024	broad.mit.edu	37	chr3	73432928	73432928	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctcttggtgatgtagcgcGtcccgtcgctgcggatcttc	13	13	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:73432928G>A	ENST00000263666.4	-	10	2903	c.2789C>T	c.(2788-2790)aCg>aTg	p.T930M	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	930					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)		GATGTAGCGCGTCCCGTCGCT	0.672																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2788-2790)aCg>aTg		PDZ domain containing ring finger 3							35	35	35					3																	73432928		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73432928G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2789C>T	3.37:g.73432928G>A	ENSP00000263666:p.Thr930Met					PDZRN3_ENST00000535920.1_Missense_Mutation_p.T652M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T647M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T587M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T587M	p.T930M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2903	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	930					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2789C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.162279|4.162279	0.78226|0.78226	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	.|T;T;T;T;T	.|0.45276	.|0.9;0.9;0.9;0.9;0.9	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.150407	.|0.64402	.|D	.|0.000015	T|T	0.68274|0.68274	0.2983|0.2983	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;P;D;D	.|0.75484	.|0.986;0.874;0.957;0.911	T|T	0.72717|0.72717	-0.4209|-0.4209	5|10	.|0.87932	.|D	.|0	.|.	18.7949|18.7949	0.91990|0.91990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|652;647;647;930	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	C|M	246|930;652;587;587;647	.|ENSP00000263666:T930M;ENSP00000442026:T652M;ENSP00000418168:T587M;ENSP00000418484:T587M;ENSP00000418624:T647M	.|ENSP00000263666:T930M	R|T	-|-	1|2	0|0	PDZRN3|PDZRN3	73515618|73515618	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.915000|0.915000	0.54546|0.54546	7.532000|7.532000	0.81985|0.81985	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.672	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		31	209	0	0	0	5.84002e-05	0	31	209					A	73432928	G	A	73432928	3	1	121	1	0	0	0	0	1	0	0	0	11751	1145	40	1	415	1	PDZRN3	3	73432928	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	21033993	73432928	124589502	51	37909											
MRPL3	11222	broad.mit.edu	37	chr3	131219286	131219286	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctcttacctgaagtaatgtGaccacatgcttttgaccatc	6	11	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:131219286G>T	ENST00000264995.3	-	3	504	c.357C>A	c.(355-357)gtC>gtA	p.V119V	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Silent_p.V146V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	119					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						GAAGTAATGTGACCACATGCT	0.398																																						ENST00000264995.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(355-357)gtC>gtA		mitochondrial ribosomal protein L3							156	121	133					3																	131219286		2203	4300	6503	SO:0001819	synonymous_variant	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131219286G>T	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.357C>A	3.37:g.131219286G>T						MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Silent_p.V146V	p.V119V	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN			3	504	-			119					Q6IBT2	Silent	SNP	ENST00000264995.3	37	c.357C>A	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061285	0.07317	.	.	ENSG00000114686	ENST00000511168	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	T	0.71099	0.3300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70498	-0.4855	4	.	.	.	-2.7541	15.3528	0.74402	0.0:0.1405:0.8595:0.0	.	.	.	.	N	134	.	.	H	-	1	0	MRPL3	132701976	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	4.626000	0.61269	1.340000	0.45581	0.555000	0.69702	CAC		0.398	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3	NM_007208		21	916	1	0	4.16121e-05	4.16121e-05	0.00757574	21	916					T	131219286	G	T	131219286	2	4	121	1	0	0	0	0	0	0	0	1	9834	1277	45	3		3	MRPL3	3	131219286	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	57786358	131219286	66803144	52	37910											
SLCO2A1	6578	broad.mit.edu	37	chr3	133670082	133670083	+	Frame_Shift_Ins	INS	-	-	A													tgggcattgctcgagggaagINSaaaaaaaaggggaaagaggt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:133670082_133670083insA	ENST00000310926.4	-	6	1103_1104	c.830_831insT	c.(829-831)ttcfs	p.F277fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	277					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CTCGAGGGAAGAAAAAAAAGGG	0.49																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(829-831)tttfs		solute carrier organic anion transporter family, member 2A1				1,4265		0,1,2132						4.8	1			90	0,8254		0,0,4127	no	frameshift	SLCO2A1	NM_005630.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670082_133670083insA		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.831dupT	3.37:g.133670090_133670090dupA	ENSP00000311291:p.Phe277fs					SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	p.F277fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1103_1104	-			277					Q86V98|Q8IUN2	Frame_Shift_Ins	INS	ENST00000310926.4	37	c.830_831insT	CCDS3084.1																																																																																				0.49	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		7	581						7	581	---	---	---	---	A	133670083	-	A	133670082	7	5	121	1	0	1	1	0	0	0	0	0	14776	933	33	0	1136	0	SLCO2A1	3	133670082	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	2450796	133670082	64352348	53	37911											
EPHB1	2047	broad.mit.edu	37	chr3	134873104	134873104	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctggactatgagatcCggtactatgagaaggtgagc	12	8	1	3	rs202048188		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:134873104C>A	ENST00000398015.3	+	6	1778	c.1408C>A	c.(1408-1410)Cgg>Agg	p.R470R	EPHB1_ENST00000493838.1_Silent_p.R31R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	470	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						CTATGAGATCCGGTACTATGA	0.542																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1408-1410)Cgg>Agg		EPH receptor B1							102	106	105					3																	134873104		2187	4299	6486	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134873104C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1408C>A	3.37:g.134873104C>A						EPHB1_ENST00000493838.1_Silent_p.R31R	p.R470R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			6	1778	+			470			Fibronectin type-III 2.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1408C>A	CCDS46921.1																																																																																				0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		8	375	1	0	1.12685e-05	1.12685e-05	0.00245395	8	375					A	134873104	C	A	134873104	2	1	121	1	0	0	0	0	0	0	0	1	5192	643	23	3		3	EPHB1	3	134873104	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1203022	134873104	63149326	54	37912											
SPATA16	83893	broad.mit.edu	37	chr3	172634107	172634107	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaagaaaaatacttacCaattctgcctcctgttgact	4	10	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:172634107C>A	ENST00000351008.3	-	9	1686	c.1503G>T	c.(1501-1503)ttG>ttT	p.L501F		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	501					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAATACTTACCAATTCTGCCT	0.408																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.e9+1		spermatogenesis associated 16							154	153	153					3																	172634107		2203	4300	6503	SO:0001630	splice_region_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172634107C>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1503+1G>T	3.37:g.172634107C>A							p.L501_splice	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		9	1686	-	Ovarian(172;0.00319)|Breast(254;0.197)		501					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Splice_Site	SNP	ENST00000351008.3	37	c.1503_splice	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491014	0.64074	.	.	ENSG00000144962	ENST00000351008	T	0.26660	1.72	6.16	6.16	0.99307	.	0.109181	0.40908	D	0.000983	T	0.40546	0.1121	L	0.32530	0.975	0.44871	D	0.997886	D	0.63046	0.992	P	0.62298	0.9	T	0.01130	-1.1442	9	.	.	.	-5.1947	20.8598	0.99761	0.0:1.0:0.0:0.0	.	501	Q9BXB7	SPT16_HUMAN	F	501	ENSP00000341765:L501F	.	L	-	3	2	SPATA16	174116801	1.000000	0.71417	0.998000	0.56505	0.184000	0.23303	3.061000	0.49963	2.937000	0.99478	0.650000	0.86243	TTG		0.408	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	Missense_Mutation	14	898	1	0	1.3612e-06	2.31682e-05	0.000368773	14	898					A	172634107	C	A	172634107	5	1	121	1	0	0	0	0	0	0	1	0	15053	608	21	3	218	3	SPATA16	3	172634107	Splice_Site	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	37761003	172634107	25388323	55	37913											
NLGN1	22871	broad.mit.edu	37	chr3	173998609	173998609	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatcccaaacaacaaccaaGtccattttcagtggatcaaa	5	11	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:173998609G>A	ENST00000457714.1	+	7	2417	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N	NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N|NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	680					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)			CAACAACCAAGTCCATTTTCA	0.468																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1987-1989)aGt>aAt		neuroligin 1							108	110	109					3																	173998609		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998609G>A	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.1988G>A	3.37:g.173998609G>A	ENSP00000392500:p.Ser663Asn					NLGN1_ENST00000545397.1_Missense_Mutation_p.S663N|NLGN1_ENST00000361589.4_Missense_Mutation_p.S663N|NLGN1_ENST00000401917.3_Missense_Mutation_p.S703N	p.S663N	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2417	+	Ovarian(172;0.0025)		680					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1988G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	9.582	1.123955	0.20959	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.24115	0.695	0.44694	D	0.997688	B	0.06786	0.001	B	0.06405	0.002	T	0.39482	-0.9612	10	0.21014	T	0.42	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	663	Q8N2Q7-2	.	N	663;663;663;703	ENSP00000392500:S663N;ENSP00000354541:S663N;ENSP00000441108:S663N;ENSP00000385750:S703N	ENSP00000354541:S663N	S	+	2	0	NLGN1	175481303	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.166000	0.64965	2.793000	0.96121	0.655000	0.94253	AGT		0.468	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		31	417	0	0	0	1.48458e-05	0	31	417					A	173998609	G	A	173998609	3	1	121	1	0	0	0	0	1	0	0	0	10503	1029	36	2	2006	2	NLGN1	3	173998609	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1364502	173998609	24023821	56	37914											
IQCG	84223	broad.mit.edu	37	chr3	197665429	197665429	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccttccttacctatcaatctGaattttcttcagtgtctccg	4	13	5	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr3:197665429G>T	ENST00000265239.6	-	5	929	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000480302.1_5'Flank|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	169						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)		CTATCAATCTGAATTTTCTTC	0.453																																						ENST00000265239.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(505-507)Cag>Aag		IQ motif containing G							210	201	204					3																	197665429		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197665429G>T	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.505C>A	3.37:g.197665429G>T	ENSP00000265239:p.Gln169Lys					IQCG_ENST00000455191.1_Missense_Mutation_p.Q169K|IQCG_ENST00000453254.1_Missense_Mutation_p.Q169K	p.Q169K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	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)	5	929	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		169					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.505C>A	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251946	0.80135	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896	T;T;T;T	0.57107	0.66;0.66;0.96;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.81341	2.54	0.46927	D	0.999252	P;D	0.89917	0.911;1.0	P;D	0.71656	0.558;0.974	T	0.75764	-0.3203	10	0.59425	D	0.04	-21.4276	16.5383	0.84377	0.0:0.0:1.0:0.0	.	169;169	C9JKX8;Q9H095	.;IQCG_HUMAN	K	169;169;169;150	ENSP00000265239:Q169K;ENSP00000407736:Q169K;ENSP00000389897:Q169K;ENSP00000406411:Q150K	ENSP00000265239:Q169K	Q	-	1	0	IQCG	199149826	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.181000	0.50903	2.759000	0.94783	0.558000	0.71614	CAG		0.453	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263		16	802	1	0	5.01169e-05	5.01169e-05	0.00884117	16	802					T	197665429	G	T	197665429	3	4	121	1	0	0	0	0	1	0	0	0	7840	1299	45	3	858	3	IQCG	3	197665429	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	23666820	197665429	357001	57	37915											
ZCCHC4	29063	broad.mit.edu	37	chr4	25353261	25353261	+	Frame_Shift_Del	DEL	G	G	-													ggattttcccctatttttttGaatcccgaatttgtcagttt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:25353261delG	ENST00000302874.4	+	8	985	c.961delG	c.(961-963)gaafs	p.E321fs	ZCCHC4_ENST00000505451.1_3'UTR|AC108218.1_ENST00000580712.1_RNA	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	321							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CTATTTTTTTGAATCCCGAAT	0.348																																						ENST00000302874.4																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9						c.(961-963)aafs		zinc finger, CCHC domain containing 4							132	122	125					4																	25353261		1790	4062	5852	SO:0001589	frameshift_variant	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25353261delG	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.961delG	4.37:g.25353261delG	ENSP00000303468:p.Glu321fs					ZCCHC4_ENST00000505451.1_3'UTR	p.E321fs	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN			8	985	+		Breast(46;0.0503)	321					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Frame_Shift_Del	DEL	ENST00000302874.4	37	c.961delG	CCDS43218.1																																																																																				0.348	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			7	627						7	627	---	---	---	---	-	25353261	G	-	25353261	7	5	121	1	0	1	0	1	0	0	0	0	17643	1291	45	0	991	0	ZCCHC4	4	25353261	Frame_Shift_Del	DEL	G	TCGA-XN-A8T3-01A-11D-A36O-08		25353261	165801015	58	37916											
WDR19	57728	broad.mit.edu	37	chr4	39276564	39276564	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gccaaatacaaaaagaagatCgagggaatggtcaggtaggc	13	6	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:39276564C>A	ENST00000399820.3	+	33	3856	c.3702C>A	c.(3700-3702)atC>atA	p.I1234I	WDR19_ENST00000288634.7_Silent_p.I1074I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1234					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						AAAAGAAGATCGAGGGAATGG	0.438																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(3700-3702)atC>atA		WD repeat domain 19							79	74	75					4																	39276564		1909	4115	6024	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39276564C>A	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.3702C>A	4.37:g.39276564C>A						WDR19_ENST00000288634.7_Silent_p.I1074I	p.I1234I	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			33	3856	+			1234					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.3702C>A	CCDS47042.1																																																																																				0.438	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			7	205	1	0	1.06961e-07	5.18039e-06	3.08116e-05	7	205					A	39276564	C	A	39276564	2	1	121	1	0	0	0	0	0	0	0	1	17333	874	31	3		3	WDR19	4	39276564	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	13923303	39276564	151877712	59	37917											
GABRB1	2560	broad.mit.edu	37	chr4	47033985	47033985	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gagacagtggacagattgctCaaaggatatgacattcgctt	11	7	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:47033985C>A	ENST00000295454.3	+	2	427	c.135C>A	c.(133-135)ctC>ctA	p.L45L	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	45					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)	ACAGATTGCTCAAAGGATATG	0.443																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(133-135)ctC>ctA		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						195	192	193					4																	47033985		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47033985C>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.135C>A	4.37:g.47033985C>A						GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	p.L45L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			2	427	+			45					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.135C>A	CCDS3474.1																																																																																				0.443	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			14	787	1	0	3.52763e-06	5.01169e-05	0.000896964	14	787					A	47033985	C	A	47033985	2	1	121	1	0	0	0	0	0	0	0	1	6193	813	29	3		3	GABRB1	4	47033985	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7757421	47033985	144120291	60	37918											
HSD17B11	51170	broad.mit.edu	37	chr4	88258508	88258508	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaaactgccaggaaacgctCaggaaggatcctaaaagaaa	9	8	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:88258508C>A	ENST00000358290.4	-	7	1138	c.823G>T	c.(823-825)Gag>Tag	p.E275*	HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*|HSD17B11_ENST00000507518.1_5'UTR|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	275					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)		AGGAAACGCTCAGGAAGGATC	0.294																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(823-825)Gag>Tag		hydroxysteroid (17-beta) dehydrogenase 11							86	87	86					4																	88258508		2203	4299	6502	SO:0001587	stop_gained	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88258508C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	22960	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 2", "short chain dehydrogenase/reductase family 16C, member 2"	612831	"dehydrogenase/reductase (SDR family) member 8"	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.823G>T	4.37:g.88258508C>A	ENSP00000351035:p.Glu275*					HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Nonsense_Mutation_p.E231*|RP11-529H2.2_ENST00000508163.1_RNA	p.E275*	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	7	1138	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	275					Q96HF6|Q9UKU4	Nonsense_Mutation	SNP	ENST00000358290.4	37	c.823G>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214804	0.39102	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	.	.	.	5.49	4.64	0.57946	.	0.079681	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	13.4986	0.61440	0.0:0.8429:0.1571:0.0	.	.	.	.	X	275;231	.	ENSP00000351035:E275X	E	-	1	0	HSD17B11	88477532	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.940000	0.56599	1.307000	0.44944	0.563000	0.77884	GAG		0.294	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		21	620	1	0	3.70037e-05	3.70037e-05	0.00707642	21	620					A	88258508	C	A	88258508	4	1	121	1	0	0	0	0	0	1	0	0	7410	835	29	3	83	3	HSD17B11	4	88258508	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	41224523	88258508	102895768	61	37919											
DNAJB14	79982	broad.mit.edu	37	chr4	100830014	100830014	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcatactgttttcgcTtttctggattacttaaaaca	7	7	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:100830014T>C	ENST00000442697.2	-	4	645	c.491A>G	c.(490-492)aAg>aGg	p.K164R		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	164	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		CTGTTTTCGCTTTTCTGGATT	0.353																																						ENST00000442697.2																			0				kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(490-492)aAg>aGg		DnaJ (Hsp40) homolog, subfamily B, member 14							95	90	92					4																	100830014		2202	4299	6501	SO:0001583	missense	79982				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr4:100830014T>C	BC022248	CCDS34035.1, CCDS75171.1	4q23	2011-09-02			ENSG00000164031	ENSG00000164031		"Heat shock proteins / DNAJ (HSP40)"	25881	protein-coding gene	gene with protein product							Standard	NM_001031723		Approved	FLJ14281	uc003hvl.4	Q8TBM8	OTTHUMG00000131049	ENST00000442697.2:c.491A>G	4.37:g.100830014T>C	ENSP00000404381:p.Lys164Arg						p.K164R	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)	4	645	-			164			J.		Q6UXN1|Q7Z3P0|Q86TA7|Q86TM0|Q9GZU9	Missense_Mutation	SNP	ENST00000442697.2	37	c.491A>G	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	T	31	5.079506	0.94050	.	.	ENSG00000164031	ENST00000442697	T	0.35973	1.28	5.8	5.8	0.92144	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	N	0.20685	0.6	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.78314	0.954;0.991	T	0.50608	-0.8808	10	0.62326	D	0.03	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	164;79	Q8TBM8;Q8TBM8-2	DJB14_HUMAN;.	R	164	ENSP00000404381:K164R	ENSP00000404381:K164R	K	-	2	0	DNAJB14	101049037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.490000	0.81461	2.209000	0.71365	0.533000	0.62120	AAG		0.353	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	NM_001031723.2		36	379	0	0	0	1.13552e-05	0	36	379					C	100830014	T	C	100830014	3	2	121	1	0	0	0	0	1	0	0	0	4635	1609	56	4	668	4	DNAJB14	4	100830014	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	12571506	100830014	90324262	62	37920											
PRDM5	11107	broad.mit.edu	37	chr4	121739540	121739540	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcctgcttaactgggaatttCttcccacagttcttgcactt	7	12	2	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:121739540C>A	ENST00000264808.3	-	5	858	c.618G>T	c.(616-618)aaG>aaT	p.K206N	PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	206					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGGGAATTTCTTCCCACAGT	0.373																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(616-618)aaG>aaT		PR domain containing 5							91	86	88					4																	121739540		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121739540C>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.618G>T	4.37:g.121739540C>A	ENSP00000264808:p.Lys206Asn					PRDM5_ENST00000515109.1_Missense_Mutation_p.K206N|PRDM5_ENST00000428209.2_Missense_Mutation_p.K206N	p.K206N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			5	858	-			206					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.618G>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358729	0.82243	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.61158	0.13;0.13;0.13	5.32	5.32	0.75619	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	0.79257	0.4415	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	T	0.82165	-0.0592	10	0.72032	D	0.01	-32.109	19.0126	0.92879	0.0:1.0:0.0:0.0	.	206;206;206	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	N	206	ENSP00000264808:K206N;ENSP00000422309:K206N;ENSP00000404832:K206N	ENSP00000264808:K206N	K	-	3	2	PRDM5	121958990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.395000	0.59678	2.498000	0.84270	0.555000	0.69702	AAG		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			69	479	1	0	5.46685e-50	2.47226e-05	1.72791e-47	69	479					A	121739540	C	A	121739540	3	1	121	1	0	0	0	0	1	0	0	0	12507	912	32	3	1322	3	PRDM5	4	121739540	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	20909526	121739540	69414736	63	37921											
FAT4	79633	broad.mit.edu	37	chr4	126370128	126370128	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tccctcctttctcctcttacGagaaacttgatataacagta	4	12	2	2	rs556536853	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:126370128G>T	ENST00000394329.3	+	9	7970	c.7957G>T	c.(7957-7959)Gag>Tag	p.E2653*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2653	Cadherin 25. {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						ctCCTCTTACGAGAAACTTGA	0.373																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(7957-7959)Gag>Tag		FAT atypical cadherin 4							54	57	56					4																	126370128		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370128G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.7957G>T	4.37:g.126370128G>T	ENSP00000377862:p.Glu2653*					FAT4_ENST00000335110.5_Nonsense_Mutation_p.E951*	p.E2653*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7970	+			2653			Cadherin 25.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.7957G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	49	15.050129	0.99820	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.71	5.71	0.89125	.	0.214766	0.22554	U	0.058541	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.5378	0.61655	0.0799:0.0:0.9201:0.0	.	.	.	.	X	2653;951	.	ENSP00000335169:E951X	E	+	1	0	FAT4	126589578	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.431000	0.66507	2.686000	0.91538	0.650000	0.86243	GAG		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	351	1	0	3.07112e-06	3.07112e-06	0.000789711	10	351					T	126370128	G	T	126370128	4	4	121	1	0	0	0	0	0	1	0	0	5717	1059	37	3	7991	3	FAT4	4	126370128	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4630588	126370128	64784148	64	37922											
FHDC1	85462	broad.mit.edu	37	chr4	153896047	153896048	+	Frame_Shift_Ins	INS	-	-	C													ccctcctaccggcccccgaaINScacccgccgctcccgcctct					rs551279175	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:153896047_153896048insC	ENST00000511601.1	+	12	1792_1793	c.1604_1605insC	c.(1603-1608)aacaccfs	p.T536fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.T536fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	536									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)					CGGCCCCCGAACACCCGCCGCT	0.663																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1603-1605)aacfs		FH2 domain containing 1																																				SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153896047_153896048insC	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.1605dupC	4.37:g.153896048_153896048dupC	ENSP00000427567:p.Thr536fs					FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.N535fs	p.N535fs			Q9C0D6	FHDC1_HUMAN			12	1792_1793	+	all_hematologic(180;0.093)		535						Frame_Shift_Ins	INS	ENST00000511601.1	37	c.1604_1605insC	CCDS34081.1																																																																																				0.663	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		12	80						12	80	---	---	---	---	C	153896048	-	C	153896047	7	5	121	1	0	1	1	0	0	0	0	0	5901	43	2	0	1646	0	FHDC1	4	153896047	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	27525919	153896047	37258229	65	37923											
SORBS2	8470	broad.mit.edu	37	chr4	186544639	186544639	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cggtggtggtggtggtggtgAtggtggtggtggtggctgga	25	2	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr4:186544639A>G	ENST00000284776.7	-	13	2441	c.1932T>C	c.(1930-1932)caT>caC	p.H644H	SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000431808.1_Silent_p.H644H|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	644	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)		ggtggtggtgatggtggtggt	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1930-1932)caT>caC		sorbin and SH3 domain containing 2							54	54	54					4																	186544639		2203	4300	6503	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544639A>G		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.1932T>C	4.37:g.186544639A>G						SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000448662.2_Intron	p.H644H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2495	-		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)	644			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1932T>C	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	243	0	0	0	1.23904e-05	0	5	243					G	186544639	A	G	186544639	2	3	121	1	0	0	0	0	0	0	0	1	14978	330	12	4		4	SORBS2	4	186544639	Silent	SNP	A	TCGA-XN-A8T3-01A-11D-A36O-08	32648592	186544639	4609637	66	37924											
AHRR	57491	broad.mit.edu	37	chr5	422893	422893	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctacatccacgtggacgaccGccaggacttctgccggcagc	11	16	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:422893G>A	ENST00000505113.1	+	6	547	c.503G>A	c.(502-504)cGc>cAc	p.R168H	AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H|AHRR_ENST00000316418.5_Missense_Mutation_p.R168H	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	168	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GTGGACGACCGCCAGGACTTC	0.567																																						ENST00000316418.5																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20						c.(502-504)cGc>cAc		aryl-hydrocarbon receptor repressor							65	74	71					5																	422893		1983	4150	6133	SO:0001583	missense	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:422893G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.503G>A	5.37:g.422893G>A	ENSP00000424601:p.Arg168His					AHRR_ENST00000505113.1_Missense_Mutation_p.R168H|AHRR_ENST00000512529.1_Missense_Mutation_p.R14H|AHRR_ENST00000506456.1_Missense_Mutation_p.R24H	p.R168H	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		6	547	+			168			PAS.		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	ENST00000505113.1	37	c.503G>A	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045895	0.93685	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.48201	2.17;2.17;0.9;0.82	4.76	4.76	0.60689	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.988	D;D;D	0.91635	0.999;0.964;0.911	T	0.62520	-0.6837	10	0.87932	D	0	.	15.254	0.73571	0.0:0.0:1.0:0.0	.	24;168;168	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	H	168;168;14;24	ENSP00000424601:R168H;ENSP00000323816:R168H;ENSP00000424880:R14H;ENSP00000426932:R24H	ENSP00000323816:R168H	R	+	2	0	AHRR	475893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.077000	0.76814	2.164000	0.68074	0.655000	0.94253	CGC		0.567	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		53	240	0	0	0	2.47226e-05	0	53	240					A	422893	G	A	422893	3	1	121	1	0	0	0	0	1	0	0	0	417	1087	38	1	525	1	AHRR	5	422893	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		422893	180492367	67	37925											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-													gtagttaaacttggagagtcTttttttccagtgctccagct							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	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)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145	157	153					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	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.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	1079						8	1079	---	---	---	---	-	13919383	T	-	13919383	7	5	121	1	0	1	0	1	0	0	0	0	4620	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	13496490	13919383	166995877	68	37926											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-													gattgacagcagctaaactgAaaaaaaatttctgtccacct							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170	183	179					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	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.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		12	1558						12	1558	---	---	---	---	-	24492973	A	-	24492973	7	5	121	1	0	1	0	1	0	0	0	0	3105	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-XN-A8T3-01A-11D-A36O-08	10573590	24492973	156422287	69	37927											
UGT3A2	167127	broad.mit.edu	37	chr5	36066823	36066823	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gtagatattgtcaggattttGgcagcctctgagagcaggac	13	7	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:36066823G>T	ENST00000282507.3	-	1	170	c.69C>A	c.(67-69)gcC>gcA	p.A23A	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	23					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)			TCAGGATTTTGGCAGCCTCTG	0.592																																						ENST00000282507.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43						c.(67-69)gcC>gcA		UDP glycosyltransferase 3 family, polypeptide A2							144	150	148					5																	36066823		2203	4300	6503	SO:0001819	synonymous_variant	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36066823G>T		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.69C>A	5.37:g.36066823G>T						UGT3A2_ENST00000513300.1_Silent_p.A23A|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron	p.A23A	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	170	-	all_lung(31;0.000179)		23					B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Silent	SNP	ENST00000282507.3	37	c.69C>A	CCDS3914.1																																																																																				0.592	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		13	786	1	0	5.01169e-05	5.01169e-05	0.00884117	13	786					T	36066823	G	T	36066823	2	4	121	1	0	0	0	0	0	0	0	1	17018	1335	47	3		3	UGT3A2	5	36066823	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	11573850	36066823	144848437	70	37928											
PRKAA1	5562	broad.mit.edu	37	chr5	40767579	40767579	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctttattacctgatatctttGattgtggccctcttcatggg	8	9	3	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:40767579G>T	ENST00000397128.2	-	6	818	c.810C>A	c.(808-810)atC>atA	p.I270I	PRKAA1_ENST00000354209.3_Silent_p.I285I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	270	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)	TGATATCTTTGATTGTGGCCC	0.348																																						ENST00000397128.2																			0				breast(1)	1						c.(808-810)atC>atA		protein kinase, AMP-activated, alpha 1 catalytic subunit	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						79	75	76					5																	40767579		1823	4077	5900	SO:0001819	synonymous_variant	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40767579G>T		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.810C>A	5.37:g.40767579G>T						PRKAA1_ENST00000354209.3_Silent_p.I285I	p.I270I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN			6	818	-			270			Protein kinase.		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	ENST00000397128.2	37	c.810C>A	CCDS3932.2																																																																																				0.348	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		11	400	1	0	3.07112e-06	3.07112e-06	0.000789711	11	400					T	40767579	G	T	40767579	2	4	121	1	0	0	0	0	0	0	0	1	12540	1280	45	3		3	PRKAA1	5	40767579	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4700756	40767579	140147681	71	37929											
OXCT1	5019	broad.mit.edu	37	chr5	41840613	41840613	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgaaattccttgcacttttCctacaggggtggaggagata	11	7	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:41840613C>A	ENST00000196371.5	-	7	832	c.672G>T	c.(670-672)agG>agT	p.R224S	OXCT1_ENST00000509987.1_Splice_Site_p.R38S	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	224					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TTGCACTTTTCCTACAGGGGT	0.368																																						ENST00000196371.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28						c.e7-1		3-oxoacid CoA transferase 1	Succinic acid(DB00139)						99	107	104					5																	41840613		2203	4300	6503	SO:0001630	splice_region_variant	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41840613C>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"3-oxoacid CoA transferase"	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.672-1G>T	5.37:g.41840613C>A						OXCT1_ENST00000509987.1_Splice_Site_p.R38_splice	p.R224_splice	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN			7	832	-			224					B2R5V2|B7Z528	Splice_Site	SNP	ENST00000196371.5	37	c.671_splice	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461521	0.63513	.	.	ENSG00000083720	ENST00000196371;ENST00000546045;ENST00000509987	D;D	0.88354	-2.37;-2.37	5.98	5.98	0.97165	3-oxoacid CoA-transferase, subunit A (1);	0.137880	0.64402	D	0.000003	D	0.94401	0.8199	M	0.85373	2.75	0.52099	D	0.999947	D	0.76494	0.999	D	0.69479	0.964	D	0.94619	0.7811	10	0.87932	D	0	.	13.6254	0.62161	0.0:0.9297:0.0:0.0702	.	224	P55809	SCOT1_HUMAN	S	224;136;38	ENSP00000196371:R224S;ENSP00000425348:R38S	ENSP00000196371:R224S	R	-	3	2	OXCT1	41876370	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	3.218000	0.51192	2.835000	0.97688	0.650000	0.86243	AGG		0.368	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	Missense_Mutation	9	692	1	0	3.86212e-05	3.86212e-05	0.00711662	9	692					A	41840613	C	A	41840613	5	1	121	1	0	0	0	0	0	0	1	0	11371	869	30	3	934	3	OXCT1	5	41840613	Splice_Site	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1073034	41840613	139074647	72	37930											
DIMT1L	27292	broad.mit.edu	37	chr5	61699154	61699154	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcaaaatgtgctgcccaatCcccgtgttgaacatgagtcc	8	12	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:61699154C>A	ENST00000199320.4	-	2	259	c.99G>T	c.(97-99)ggG>ggT	p.G33G	DIMT1_ENST00000506390.1_Silent_p.G33G|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	33						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GCTGCCCAATCCCCGTGTTGA	0.388																																						ENST00000199320.4																			0											c.(97-99)ggG>ggT		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)							146	140	142					5																	61699154		2203	4300	6503	SO:0001819	synonymous_variant	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61699154C>A	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.99G>T	5.37:g.61699154C>A						KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Silent_p.G33G	p.G33G	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN			2	259	-			33					O76025|Q9BU77|Q9UES1	Silent	SNP	ENST00000199320.4	37	c.99G>T	CCDS3981.1																																																																																				0.388	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		64	383	1	0	3.83939e-23	2.47226e-05	1.19689e-20	64	383					A	61699154	C	A	61699154	2	1	121	1	0	0	0	0	0	0	0	1	4539	842	30	3		3	DIMT1L	5	61699154	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	19858541	61699154	119216106	73	37931											
HMGCR	3156	broad.mit.edu	37	chr5	74643116	74643116	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgaatgtcttgtgattGgagttggtaccatgtcaggt	13	4	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:74643116G>A	ENST00000287936.4	+	6	694	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R|HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	180	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				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)	TCTTGTGATTGGAGTTGGTAC	0.353																																						ENST00000287936.4																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(538-540)Gga>Aga		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						301	275	284					5																	74643116		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74643116G>A		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.538G>A	5.37:g.74643116G>A	ENSP00000287936:p.Gly180Arg					HMGCR_ENST00000343975.5_Missense_Mutation_p.G180R|HMGCR_ENST00000511206.1_Missense_Mutation_p.G180R	p.G180R	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	6	694	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	180					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.538G>A	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021820	0.93462	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	D;D;D	0.91945	-2.94;-2.94;-2.94	5.33	5.33	0.75918	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.95438	0.8523	10	0.46703	T	0.11	-22.7867	18.6124	0.91290	0.0:0.0:1.0:0.0	.	180;180;180;180	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	R	180;111;180;180	ENSP00000426745:G180R;ENSP00000287936:G180R;ENSP00000340816:G180R	ENSP00000287936:G180R	G	+	1	0	HMGCR	74678872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.459000	0.83118	0.650000	0.86243	GGA		0.353	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			8	811	0	0	0	2.0095e-06	0	8	811					A	74643116	G	A	74643116	3	1	121	1	0	0	0	0	1	0	0	0	7261	1349	47	2	556	2	HMGCR	5	74643116	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	12943962	74643116	106272144	74	37932											
CMYA5	202333	broad.mit.edu	37	chr5	79025398	79025398	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgcatccattagtctagaGccagatttggacaatagtgg	11	7	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:79025398G>A	ENST00000446378.2	+	2	841	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	270					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)		TTAGTCTAGAGCCAGATTTGG	0.353																																						ENST00000446378.2																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(808-810)gaG>gaA		cardiomyopathy associated 5							51	48	49					5																	79025398		1857	4091	5948	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79025398G>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.810G>A	5.37:g.79025398G>A							p.E270E	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	841	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	270					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.810G>A	CCDS47238.1																																																																																				0.353	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		20	264	0	0	0	1.15919e-05	0	20	264					A	79025398	G	A	79025398	2	1	121	1	0	0	0	0	0	0	0	1	3599	962	34	2		2	CMYA5	5	79025398	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4382282	79025398	101889862	75	37933											
PCDHA11	56138	broad.mit.edu	37	chr5	140250312	140250312	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgcgcgatgcgggcgtgCcgcctctgagcagcaacgtg	17	14	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:140250312C>T	ENST00000398640.2	+	1	1624	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCGTGCCGCCTCTGAG	0.692																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1624-1626)Ccg>Tcg									73	81	78					5																	140250312		2202	4298	6500	SO:0001583	missense	0							g.chr5:140250312C>T	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.1624C>T	5.37:g.140250312C>T	ENSP00000381636:p.Pro542Ser					PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	p.P542S	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1624	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1624C>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788483	0.70337	.	.	ENSG00000249158	ENST00000398640	T	0.56776	0.44	5.15	5.15	0.70609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78698	0.4324	M	0.92026	3.265	0.35643	D	0.811176	D;D	0.89917	1.0;1.0	D;D	0.71414	0.969;0.973	D	0.87476	0.2417	9	0.87932	D	0	.	18.2779	0.90089	0.0:1.0:0.0:0.0	.	542;542	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	542	ENSP00000381636:P542S	ENSP00000381636:P542S	P	+	1	0	PCDHA11	140230496	0.999000	0.42202	0.994000	0.49952	0.949000	0.60115	5.585000	0.67497	2.398000	0.81561	0.556000	0.70494	CCG		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		7	727	0	0	0	2.0095e-06	0	7	727					T	140250312	C	T	140250312	3	4	121	1	0	0	0	0	1	0	0	0	11563	739	26	2	1626	2	PCDHA11	5	140250312	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	61224914	140250312	40664948	76	37934											
PPP2R2B	5521	broad.mit.edu	37	chr5	146080689	146080689	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccgtgtggttgaattctacCgtagagataatgtcagctgc	11	9	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:146080689C>A	ENST00000394413.3	-	2	657	c.87G>T	c.(85-87)acG>acT	p.T29T	PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000504198.1_Silent_p.T35T|PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000336640.6_Silent_p.T32T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000530902.1_5'UTR			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	29					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)			TGAATTCTACCGTAGAGATAA	0.418																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(85-87)acG>acT		protein phosphatase 2, regulatory subunit B, beta							237	249	245					5																	146080689		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146080689C>A	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.87G>T	5.37:g.146080689C>A						PPP2R2B_ENST00000394411.4_Silent_p.T29T|PPP2R2B_ENST00000453001.1_Silent_p.T29T|PPP2R2B_ENST00000394410.2_Silent_p.T18T|PPP2R2B_ENST00000356826.3_Silent_p.T29T|PPP2R2B_ENST00000508545.2_Silent_p.T18T|PPP2R2B_ENST00000394414.1_Silent_p.T95T|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Silent_p.T87T|PPP2R2B_ENST00000504198.1_Silent_p.T35T|PPP2R2B_ENST00000336640.6_Silent_p.T32T	p.T29T			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	657	-			29					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.87G>T	CCDS4284.1																																																																																				0.418	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		16	1237	1	0	5.50884e-06	5.50884e-06	0.00130912	16	1237					A	146080689	C	A	146080689	2	1	121	1	0	0	0	0	0	0	0	1	12432	639	23	3		3	PPP2R2B	5	146080689	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5830377	146080689	34834571	77	37935											
GLRA1	2741	broad.mit.edu	37	chr5	151208531	151208531	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagctccttatgttgcCgagacacaaagttaacggca	11	10	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr5:151208531C>A	ENST00000455880.2	-	8	1296	c.1010G>T	c.(1009-1011)cGg>cTg	p.R337L	GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L|GLRA1_ENST00000274576.4_Missense_Mutation_p.R337L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	337					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTATGTTGCCGAGACACAAA	0.478																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(1009-1011)cGg>cTg		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						137	134	135					5																	151208531		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208531C>A		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1010G>T	5.37:g.151208531C>A	ENSP00000411593:p.Arg337Leu					GLRA1_ENST00000545569.1_Missense_Mutation_p.R254L|GLRA1_ENST00000455880.2_Missense_Mutation_p.R337L	p.R337L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1302	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	337					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.1010G>T	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369025	0.82463	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85411	-1.98;-1.98;-1.98	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.79693	2.465	0.80722	D	1	P;P;P	0.36789	0.57;0.493;0.514	P;P;B	0.47376	0.545;0.545;0.313	D	0.91347	0.5101	10	0.72032	D	0.01	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	337;254;337	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	337;337;254	ENSP00000274576:R337L;ENSP00000411593:R337L;ENSP00000445913:R254L	ENSP00000274576:R337L	R	-	2	0	GLRA1	151188724	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.557000	0.82243	2.524000	0.85096	0.650000	0.86243	CGG		0.478	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			11	739	1	0	1.58986e-06	3.86212e-05	0.000423164	11	739					A	151208531	C	A	151208531	3	1	121	1	0	0	0	0	1	0	0	0	6483	652	23	3	371	3	GLRA1	5	151208531	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5127842	151208531	29706729	78	37936											
TRIM38	10475	broad.mit.edu	37	chr6	25972146	25972146	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ccggtctgactttaagaatcTccagtgtttcctacatgagg	9	10	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:25972146T>G	ENST00000357085.3	+	5	1033	c.557T>G	c.(556-558)cTc>cGc	p.L186R	TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	186					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTTAAGAATCTCCAGTGTTTC	0.438																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(556-558)cTc>cGc		tripartite motif containing 38							63	63	63					6																	25972146		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25972146T>G	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.557T>G	6.37:g.25972146T>G	ENSP00000349596:p.Leu186Arg					TRIM38_ENST00000349458.3_Missense_Mutation_p.L186R	p.L186R	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			5	1033	+			186					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.557T>G	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	t	8.516	0.867585	0.17250	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.07216	3.21;3.21;3.21	4.55	3.37	0.38596	.	0.000000	0.39985	N	0.001212	T	0.07999	0.0200	M	0.80746	2.51	0.09310	N	0.999999	P	0.52316	0.952	P	0.52267	0.694	T	0.16188	-1.0411	10	0.27082	T	0.32	.	7.6274	0.28220	0.1881:0.0:0.0:0.8119	.	186	O00635	TRI38_HUMAN	R	186	ENSP00000443976:L186R;ENSP00000230099:L186R;ENSP00000349596:L186R	ENSP00000230099:L186R	L	+	2	0	TRIM38	26080125	0.041000	0.20044	0.012000	0.15200	0.001000	0.01503	2.090000	0.41682	1.047000	0.40274	-0.327000	0.08410	CTC		0.438	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			22	223	0	0	0	5.49717e-05	0	22	223					G	25972146	T	G	25972146	3	3	121	1	0	0	0	0	1	0	0	0	16565	1551	54	4	567	4	TRIM38	6	25972146	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08		25972146	145142921	79	37937											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834859	27834859	+	Frame_Shift_Del	DEL	T	T	-													tcggagtcttcttcactgccTttttcgcccctgcagccttc							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:27834859delT	ENST00000331442.3	-	1	500	c.449delA	c.(448-450)aagfs	p.K150fs		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																																						ENST00000331442.3																			1	Substitution - Missense(1)	p.K150R(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(448-450)agfs		histone cluster 1, H1b							97	111	106					6																	27834859		2203	4299	6502	SO:0001589	frameshift_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834859delT	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.449delA	6.37:g.27834859delT	ENSP00000330074:p.Lys150fs						p.K150fs	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	500	-			150					Q14529|Q3MJ42	Frame_Shift_Del	DEL	ENST00000331442.3	37	c.449delA	CCDS4635.1																																																																																				0.622	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		7	1320						7	1320	---	---	---	---	-	27834859	T	-	27834859	7	5	121	1	0	1	0	1	0	0	0	0	7153	1609	56	0	235	0	HIST1H1B	6	27834859	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	1862713	27834859	143280208	80	37938											
SLC44A4	80736	broad.mit.edu	37	chr6	31843636	31843636	+	Frame_Shift_Del	DEL	C	C	-													cctttgtactcacttgttctCccccatgccacagtaggccc							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:31843636delC	ENST00000229729.6	-	4	255	c.235delG	c.(235-237)gagfs	p.E79fs	SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000544672.1_Frame_Shift_Del_p.E3fs|SLC44A4_ENST00000375562.4_Frame_Shift_Del_p.E79fs	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	79					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTTGTTCTCCCCCATGCCA	0.602																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(7-9)agfs		solute carrier family 44, member 4	Choline(DB00122)						194	216	208					6																	31843636		1511	2709	4220	SO:0001589	frameshift_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31843636delC	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.235delG	6.37:g.31843636delC	ENSP00000229729:p.Glu79fs					SLC44A4_ENST00000229729.6_Frame_Shift_Del_p.E79fs|SLC44A4_ENST00000375562.4_Frame_Shift_Del_p.E79fs|SLC44A4_ENST00000465707.1_5'UTR	p.E3fs	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			4	303	-			79					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Frame_Shift_Del	DEL	ENST00000229729.6	37	c.7delG	CCDS4724.2																																																																																				0.602	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			7	1764						7	1764	---	---	---	---	-	31843636	C	-	31843636	7	5	121	1	0	1	0	1	0	0	0	0	14688	864	30	0	1969	0	SLC44A4	6	31843636	Frame_Shift_Del	DEL	C	TCGA-XN-A8T3-01A-11D-A36O-08	4008777	31843636	139271431	81	37939											
TNXB	7148	broad.mit.edu	37	chr6	32049954	32049954	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtaccacctggggccGtccatccctgtccctgtact	9	17	0	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:32049954G>A	ENST00000375244.3	-	9	3796	c.3595C>T	c.(3595-3597)Cgg>Tgg	p.R1199W	TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W			P22105	TENX_HUMAN	tenascin XB	1286	Fibronectin type-III 4. {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						ACCTGGGGCCGTCCATCCCTG	0.562																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3595-3597)Cgg>Tgg		tenascin XB							45	40	42					6																	32049954		1266	2540	3806	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32049954G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3595C>T	6.37:g.32049954G>A	ENSP00000364393:p.Arg1199Trp					TNXB_ENST00000375247.2_Missense_Mutation_p.R1199W	p.R1199W			P22105	TENX_HUMAN			9	3796	-			1286			Fibronectin type-III 4.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.3595C>T		.	.	.	.	.	.	.	.	.	.	G	17.01	3.278036	0.59758	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	4.74	4.74	0.60224	.	0.905187	0.09249	N	0.828076	T	0.53867	0.1823	M	0.61703	1.905	0.09310	N	1	D	0.64830	0.994	P	0.61397	0.888	T	0.41698	-0.9494	10	0.39692	T	0.17	.	10.3406	0.43875	0.0:0.0:0.804:0.196	.	1199	P22105-3	.	W	1199	ENSP00000364393:R1199W;ENSP00000364396:R1199W	ENSP00000364393:R1199W	R	-	1	2	TNXB	32157932	0.003000	0.15002	0.035000	0.18076	0.930000	0.56654	1.320000	0.33666	2.461000	0.83175	0.407000	0.27541	CGG		0.562	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		43	129	0	0	0	1.13552e-05	0	43	129					A	32049954	G	A	32049954	3	1	121	1	0	0	0	0	1	0	0	0	16398	1144	40	1	11262	1	TNXB	6	32049954	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	206318	32049954	139065113	82	37940											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34826124	34826124	+	Frame_Shift_Del	DEL	T	T	-													ctttagccttctgcacatgcTttttttgcatcatgcctttc							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:34826124delT	ENST00000192788.5	+	14	2162	c.1991delT	c.(1990-1992)cttfs	p.L664fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	664							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L666fs*15(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGCACATGCTTTTTTTGCAT	0.502																																						ENST00000192788.5																			1	Insertion - Frameshift(1)	p.L666fs*15(1)	breast(1)	breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1990-1992)ctfs		UHRF1 binding protein 1							170	155	159					6																	34826124		1916	4147	6063	SO:0001589	frameshift_variant	54887							g.chr6:34826124delT	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.1991delT	6.37:g.34826124delT	ENSP00000192788:p.Leu664fs					UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs	p.L664fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2162	+			664					Q9NXE0	Frame_Shift_Del	DEL	ENST00000192788.5	37	c.1991delT	CCDS43455.1																																																																																				0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		8	1011						8	1011	---	---	---	---	-	34826124	T	-	34826124	7	5	121	1	0	1	0	1	0	0	0	0	17022	1609	56	0	2045	0	UHRF1BP1	6	34826124	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	2776170	34826124	136288943	83	37941											
TINAG	27283	broad.mit.edu	37	chr6	54254663	54254663	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttcgaggagtaaatgagtcCgacattgaaaagttgattat	10	5	0	3	rs139720660	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:54254663C>A	ENST00000259782.4	+	11	1467	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	457					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TAAATGAGTCCGACATTGAAA	0.398																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1369-1371)tcC>tcA		tubulointerstitial nephritis antigen							143	139	141					6																	54254663		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254663C>A	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1371C>A	6.37:g.54254663C>A							p.S457S	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1467	+	Lung NSC(77;0.0518)		457					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1371C>A	CCDS4955.1																																																																																				0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		15	817	1	0	3.52763e-06	5.01169e-05	0.000896964	15	817					A	54254663	C	A	54254663	2	1	121	1	0	0	0	0	0	0	0	1	15973	639	23	3		3	TINAG	6	54254663	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	19428539	54254663	116860404	84	37942											
GFRAL	389400	broad.mit.edu	37	chr6	55216353	55216353	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctacttgcctcagtgtaattCgcagctgccaaaatgatgaa	8	10	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:55216353C>T	ENST00000340465.2	+	5	759	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	225					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGTGTAATTCGCAGCTGCCA	0.428																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(673-675)Cgc>Tgc		GDNF family receptor alpha like							64	65	65					6																	55216353		2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55216353C>T	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 144"	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.673C>T	6.37:g.55216353C>T	ENSP00000343636:p.Arg225Cys						p.R225C	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		5	759	+	Lung NSC(77;0.0875)|Renal(3;0.122)		225					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.673C>T	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588449	0.86851	.	.	ENSG00000187871	ENST00000340465	T	0.64991	-0.13	6.05	6.05	0.98169	GDNF/GAS1 (2);	0.376195	0.29424	N	0.012190	T	0.62551	0.2437	L	0.34521	1.04	0.43014	D	0.994552	D	0.67145	0.996	P	0.56788	0.806	T	0.64084	-0.6490	10	0.62326	D	0.03	-2.3631	20.6087	0.99469	0.0:1.0:0.0:0.0	.	225	Q6UXV0	GFRAL_HUMAN	C	225	ENSP00000343636:R225C	ENSP00000343636:R225C	R	+	1	0	GFRAL	55324312	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.954000	0.56708	2.866000	0.98385	0.650000	0.86243	CGC		0.428	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		17	241	0	0	0	5.3912e-06	0	17	241					T	55216353	C	T	55216353	3	4	121	1	0	0	0	0	1	0	0	0	6380	884	31	1	691	1	GFRAL	6	55216353	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	961690	55216353	115898714	85	37943											
RPF2	84154	broad.mit.edu	37	chr6	111346763	111346763	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaagaccacgagaaaaagtCaaaaagaattaaaaaaaatt	6	4	1	4			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:111346763C>A	ENST00000441448.2	+	10	991	c.899C>A	c.(898-900)tCa>tAa	p.S300*		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	300						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GAGAAAAAGTCAAAAAGAATT	0.378																																						ENST00000441448.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						c.(898-900)tCa>tAa		ribosome production factor 2 homolog (S. cerevisiae)							39	43	42					6																	111346763		2202	4300	6502	SO:0001587	stop_gained	84154					nucleolus	protein binding	g.chr6:111346763C>A	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.899C>A	6.37:g.111346763C>A	ENSP00000402338:p.Ser300*						p.S300*	NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN			10	991	+			300					Q5VXN1|Q8N4A1	Nonsense_Mutation	SNP	ENST00000441448.2	37	c.899C>A	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083416	0.55861	.	.	ENSG00000197498	ENST00000441448	.	.	.	5.8	5.8	0.92144	.	0.924071	0.09228	N	0.831007	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-28.3023	20.0693	0.97712	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000402338:S300X	S	+	2	0	RPF2	111453456	0.992000	0.36948	0.965000	0.40720	0.017000	0.09413	1.696000	0.37773	2.758000	0.94735	0.563000	0.77884	TCA		0.378	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194		13	154	1	0	1.5739e-10	3.45872e-05	4.80767e-08	13	154					A	111346763	C	A	111346763	4	1	121	1	0	0	0	0	0	1	0	0	13597	838	29	3	937	3	RPF2	6	111346763	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	56130410	111346763	59768304	86	37944											
DSE	29940	broad.mit.edu	37	chr6	116756757	116756757	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaattaatttcaggtatgatGgcagcttgaaatcggttcct	9	6	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:116756757G>T	ENST00000331677.3	+	7	1570	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	DSE_ENST00000537543.1_Missense_Mutation_p.G395C|DSE_ENST00000452085.3_Missense_Mutation_p.G376C|DSE_ENST00000359564.2_Missense_Mutation_p.G376C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	376					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTATGATGGCAGCTTGAA	0.408																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1126-1128)Ggc>Tgc		dermatan sulfate epimerase							77	78	78					6																	116756757		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116756757G>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1126G>T	6.37:g.116756757G>T	ENSP00000332151:p.Gly376Cys					DSE_ENST00000452085.3_Missense_Mutation_p.G376C|DSE_ENST00000359564.2_Missense_Mutation_p.G376C|DSE_ENST00000537543.1_Missense_Mutation_p.G395C	p.G376C			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	1570	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	376					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1126G>T	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647492	0.29246	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.99	5.11	0.69529	.	0.107851	0.64402	D	0.000006	T	0.04452	0.0122	N	0.08118	0	0.29751	N	0.836299	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.003	T	0.27226	-1.0080	10	0.62326	D	0.03	-11.7541	17.1813	0.86856	0.0:0.1261:0.8739:0.0	.	395;376	B7Z765;Q9UL01	.;DSE_HUMAN	C	376;395;376;376	ENSP00000404049:G376C;ENSP00000441152:G395C;ENSP00000332151:G376C;ENSP00000352567:G376C	ENSP00000332151:G376C	G	+	1	0	DSE	116863450	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.663000	0.68038	1.499000	0.48617	0.655000	0.94253	GGC		0.408	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		9	434	1	0	2.17888e-05	2.17888e-05	0.00444706	9	434					T	116756757	G	T	116756757	3	4	121	1	0	0	0	0	1	0	0	0	4790	1348	47	3	1144	3	DSE	6	116756757	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	5409994	116756757	54358310	87	37945											
ENPP3	5169	broad.mit.edu	37	chr6	131979467	131979467	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgttttccattttcaggtttGacctgccaccagttatcttg	7	10	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:131979467G>T	ENST00000414305.1	+	7	797	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	157	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTCAGGTTTGACCTGCCACC	0.328																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(469-471)Gac>Tac		ectonucleotide pyrophosphatase/phosphodiesterase 3							137	133	134					6																	131979467		2202	4300	6502	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131979467G>T	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.469G>T	6.37:g.131979467G>T	ENSP00000406261:p.Asp157Tyr					ENPP3_ENST00000358229.5_Missense_Mutation_p.D157Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D123Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D123Y|ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.D157Y	p.D157Y			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	7	797	+	Breast(56;0.0753)		157			Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.469G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432322	0.62844	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.46	5.46	0.80206	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.726895	0.12959	N	0.425153	T	0.77032	0.4071	M	0.73962	2.25	0.38009	D	0.934463	P	0.47545	0.897	P	0.49561	0.615	T	0.79536	-0.1763	10	0.66056	D	0.02	-12.1846	16.5792	0.84710	0.0:0.0:1.0:0.0	.	157	O14638	ENPP3_HUMAN	Y	157;157;123;123;157	ENSP00000406261:D157Y;ENSP00000350265:D157Y;ENSP00000440810:D123Y;ENSP00000399269:D123Y;ENSP00000350964:D157Y	ENSP00000350265:D157Y	D	+	1	0	ENPP3	132021160	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	2.644000	0.46613	2.722000	0.93159	0.650000	0.86243	GAC		0.328	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			8	283	1	0	1.12685e-05	1.12685e-05	0.00245395	8	283					T	131979467	G	T	131979467	3	4	121	1	0	0	0	0	1	0	0	0	5149	1290	45	3	491	3	ENPP3	6	131979467	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	15222710	131979467	39135600	88	37946											
HEBP2	23593	broad.mit.edu	37	chr6	138734065	138734065	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagaatcaagaacaacttttGacattagcaagcattttaag	6	6	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:138734065G>T	ENST00000607197.1	+	4	745	c.468G>T	c.(466-468)ttG>ttT	p.L156F	HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L|HEBP2_ENST00000367697.3_Nonstop_Mutation_p.*117L	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	156					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AACAACTTTTGACATTAGCAA	0.353																																						ENST00000367697.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(349-351)tGa>tTa		heme binding protein 2							151	149	150					6																	138734065		2203	4300	6503	SO:0001583	missense	23593					mitochondrion		g.chr6:138734065G>T	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"chromosome 6 open reading frame 34"	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.468G>T	6.37:g.138734065G>T	ENSP00000475750:p.Leu156Phe					HEBP2_ENST00000607197.1_Missense_Mutation_p.L156F|HEBP2_ENST00000448741.1_Nonstop_Mutation_p.*128L	p.*117L			Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	4	599	+	Breast(32;0.0933)		0					Q96P57	Nonstop_Mutation	SNP	ENST00000607197.1	37	c.350G>T	CCDS5191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.63|15.63	2.889559|2.889559	0.52014|0.52014	.|.	.|.	ENSG00000051620|ENSG00000051620	ENST00000058691|ENST00000448741;ENST00000367697	T|.	0.22539|.	1.95|.	5.75|5.75	3.05|3.05	0.35203|0.35203	Regulatory factor, effector, bacterial (1);|.	0.628617|.	0.15795|.	N|.	0.244224|.	T|.	0.34571|.	0.0902|.	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	D|.	0.65233|.	0.933|.	T|.	0.24693|.	-1.0153|.	10|.	0.56958|.	D|.	0.05|.	.|.	8.8909|8.8909	0.35432|0.35432	0.2325:0.0:0.7675:0.0|0.2325:0.0:0.7675:0.0	.|.	156|.	Q9Y5Z4|.	HEBP2_HUMAN|.	F|L	156|128;117	ENSP00000058691:L156F|.	ENSP00000058691:L156F|.	L|X	+|+	3|2	2|2	HEBP2|HEBP2	138775758|138775758	1.000000|1.000000	0.71417|0.71417	0.890000|0.890000	0.34922|0.34922	0.965000|0.965000	0.64279|0.64279	3.520000|3.520000	0.53465|0.53465	0.378000|0.378000	0.24764|0.24764	0.563000|0.563000	0.77884|0.77884	TTG|TGA		0.353	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			13	500	1	0	5.01169e-05	5.01169e-05	0.00884117	13	500					T	138734065	G	T	138734065	3	4	121	1	0	0	0	0	1	0	0	0	7067	1281	45	3	482	3	HEBP2	6	138734065	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	6754598	138734065	32381002	89	37947											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	DEL	T	T	-													cataatcaagaactccagccTttttttccacaaaagaaatt					rs35128811		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e121-2		spectrin repeat containing, nuclear envelope 1							125	136	132					6																	152539540		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152539540delT	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.22045-2A>-	6.37:g.152539540delT		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	121	22646	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	ENST00000367255.5	37		CCDS5236.2																																																																																				0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	7	971						7	971	---	---	---	---	-	152539540	T	-	152539540	8	5	121	1	0	1	0	1	0	0	1	0	15497	1623	56	0	4527	0	SYNE1	6	152539540	Splice_Site	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	13805475	152539540	18575527	90	37948											
THSD7A	221981	broad.mit.edu	37	chr7	11871469	11871470	+	In_Frame_Ins	INS	-	-	GCAGCG													gcgtagcagcagcagcaggaINSgcagcggcagcggcagcggc					rs559389570|rs536177295	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:11871469_11871470insGCAGCG	ENST00000423059.4	-	1	354_355	c.103_104insCGCTGC	c.(103-105)ctc>cCGCTGCtc	p.34_35insPL		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	34					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)		cagcagcaggagcagcggcagc	0.772										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(103-105)cct>CGCTGCcct		thrombospondin, type I, domain containing 7A																																				SO:0001652	inframe_insertion	221981					integral to membrane		g.chr7:11871469_11871470insGCAGCG		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.98_103dupCGCTGC	7.37:g.11871470_11871475dupGCAGCG	ENSP00000406482:p.Pro33_Leu34dup	HNSCC(18;0.044)					p.34_35insRC	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	354_355	-			34						In_Frame_Ins	INS	ENST00000423059.4	37	c.103_104insCGCTGC	CCDS47543.1																																																																																				0.772	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		12	52						12	52	---	---	---	---	GCAGCG	11871470	-	GCAGCG	11871469	7	5	121	1	0	1	1	0	0	0	0	0	15931	304	11	0	4977	0	THSD7A	7	11871469	In_Frame_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08		11871469	147267194	91	37949											
C7orf42	55069	broad.mit.edu	37	chr7	66418350	66418350	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaatcctgaattttgtccCgagaaggtgagcggtggatg	14	7	0	3	rs375502371		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:66418350C>A	ENST00000341567.4	+	6	1173	c.918C>A	c.(916-918)ccC>ccA	p.P306P		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	306						integral component of membrane (GO:0016021)		p.P306P(1)									AATTTTGTCCCGAGAAGGTGA	0.453																																						ENST00000341567.4																			1	Substitution - coding silent(1)	p.P306P(1)	lung(1)								c.(916-918)ccC>ccA		transmembrane protein 248							160	154	156					7																	66418350		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66418350C>A		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.918C>A	7.37:g.66418350C>A							p.P306P	NM_017994.4	NP_060464.1					6	1173	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.918C>A	CCDS5536.1																																																																																				0.453	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		10	795	1	0	9.31168e-06	9.31168e-06	0.00207751	10	795					A	66418350	C	A	66418350	2	1	121	1	0	0	0	0	0	0	0	1	2399	639	23	3		3	C7orf42	7	66418350	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	54546881	66418350	92720313	92	37950											
GIGYF1	64599	broad.mit.edu	37	chr7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-													tgccgccgcttctgctcctcCtgctgctgctggcggcgctt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714					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)					TCTGCTCCTCCTGCTGCTGCTGG	0.65																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2140-2142)del		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100280978_100280980delCTG	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.2140_2142delCAG	7.37:g.100280987_100280989delCTG	ENSP00000275732:p.Gln714del						p.Q714del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			18	3349_3351	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		714					Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.2140_2142delCAG	CCDS34708.1																																																																																				0.65	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		8	804						8	804	---	---	---	---	-	100280980	CTG	-	100280978	7	5	121	1	0	1	0	1	0	0	0	0	6406	680	24	0	993	0	GIGYF1	7	100280978	In_Frame_Del	DEL	CTG	TCGA-XN-A8T3-01A-11D-A36O-08	33862628	100280978	58857685	93	37951											
ZAN	7455	broad.mit.edu	37	chr7	100350550	100350550	+	RNA	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taccatctccacagaaaaacTcaccatccccacagaaaaac	2	16	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_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)		p.L941P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							260	315	297					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350550T>C						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	691	0	0	0	1.12685e-05	0	6	691					C	100350550	T	C	100350550	1	2	121	0	1	0	0	0	0	0	0	0	17567	1551	54	4		4	ZAN	7	100350550	RNA	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	69572	100350550	58788113	94	37952											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	6	14	0	0	rs576887296|rs398124272	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37	35	35					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"Forkhead boxes"	13875	protein-coding gene	gene with protein product	"trinucleotide repeat containing 10", "forkhead/winged-helix transcription factor", "speech and language disorder 1", "CAG repeat protein 44"	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	217	0	0	0	1.23904e-05	0	5	217					G	114269973	A	G	114269973	2	3	121	1	0	0	0	0	0	0	0	1	6054	40	2	4		4	FOXP2	7	114269973	Silent	SNP	A	TCGA-XN-A8T3-01A-11D-A36O-08	13919423	114269973	44868690	95	37953											
FASTK	10922	broad.mit.edu	37	chr7	150775665	150775665	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttgctgctgagttgcGtttcctgaaccaccaggaag	10	13	0	2	rs377740282		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:150775665G>A	ENST00000297532.6	-	4	886	c.809C>T	c.(808-810)aCg>aTg	p.T270M	FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000540185.1_Intron|FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	270					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)		GCTGAGTTGCGTTTCCTGAAC	0.642																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(808-810)aCg>aTg		Fas-activated serine/threonine kinase		G	MET/THR,MET/THR	0,4406		0,0,2203	58	60	59		809,386	0.7	1	7		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FASTK	NM_006712.3,NM_033015.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	270/550,129/409	150775665	1,13005	2203	4300	6503	SO:0001583	missense	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150775665G>A		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.809C>T	7.37:g.150775665G>A	ENSP00000297532:p.Thr270Met					FASTK_ENST00000482571.1_Missense_Mutation_p.T243M|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Missense_Mutation_p.T129M|FASTK_ENST00000540185.1_Intron	p.T270M	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	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)	4	886	-			270					A8K867|F8VTW9|Q59EM8|Q8IVA0	Missense_Mutation	SNP	ENST00000297532.6	37	c.809C>T	CCDS5918.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657389	0.29425	0.0	1.16E-4	ENSG00000164896	ENST00000483105;ENST00000297530;ENST00000353841;ENST00000297532;ENST00000482571	T;T;T	0.30448	1.94;1.94;1.53	4.75	0.664	0.17890	.	0.729997	0.12332	N	0.478305	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	P;B;B	0.47545	0.897;0.002;0.0	B;B;B	0.37091	0.241;0.001;0.0	T	0.10660	-1.0620	10	0.56958	D	0.05	6.7165	3.399	0.07316	0.0809:0.2673:0.3781:0.2737	.	243;129;270	F8VTW9;Q8IVA0;Q14296	.;.;FASTK_HUMAN	M	270;270;129;270;243	ENSP00000324817:T129M;ENSP00000297532:T270M;ENSP00000418516:T243M	ENSP00000297530:T270M	T	-	2	0	FASTK	150406598	1.000000	0.71417	0.964000	0.40570	0.859000	0.49053	1.929000	0.40114	0.003000	0.14656	-0.152000	0.13540	ACG		0.642	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		40	137	0	0	0	2.05139e-05	0	40	137					A	150775665	G	A	150775665	3	1	121	1	0	0	0	0	1	0	0	0	5709	1145	40	1	868	1	FASTK	7	150775665	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	36505692	150775665	8362998	96	37954											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.53	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		11	293						11	293	---	---	---	---	-	155531074	CA	-	155531073	7	5	121	1	0	1	0	1	0	0	0	0	13180	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-XN-A8T3-01A-11D-A36O-08	4755408	155531073	3607590	97	37955											
RNF32	140545	broad.mit.edu	37	chr7	156437421	156437421	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actcagaaaaagaatatgttCttgatcccaaaccgccgccg	7	12	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr7:156437421C>A	ENST00000405335.1	+	4	653	c.244C>A	c.(244-246)Ctt>Att	p.L82I	RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000392741.2_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I|RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I			Q9H0A6	RNF32_HUMAN	ring finger protein 32	82						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)		AGAATATGTTCTTGATCCCAA	0.353																																						ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(244-246)Ctt>Att		ring finger protein 32							70	74	72					7																	156437421		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437421C>A		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.244C>A	7.37:g.156437421C>A	ENSP00000385285:p.Leu82Ile					RNF32_ENST00000392740.1_Missense_Mutation_p.L82I|RNF32_ENST00000392743.2_Missense_Mutation_p.L82I|RNF32_ENST00000343665.4_Missense_Mutation_p.L82I|RNF32_ENST00000405335.1_Missense_Mutation_p.L82I|RNF32_ENST00000317955.5_Missense_Mutation_p.L82I|RNF32_ENST00000311822.8_Missense_Mutation_p.L82I|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.L82I	p.L82I			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	332	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	82					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.244C>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331272	0.81690	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665;ENST00000392740	D;D;D;D;D;D;D;T	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;1.6	5.17	5.17	0.71159	.	0.059371	0.64402	D	0.000002	D	0.95705	0.8603	M	0.71206	2.165	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;0.993	D;P;D;P	0.87578	0.997;0.895;0.998;0.725	D	0.95321	0.8420	10	0.46703	T	0.11	-17.3747	18.6938	0.91593	0.0:1.0:0.0:0.0	.	82;82;82;82	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	I	82	ENSP00000385815:L82I;ENSP00000405588:L82I;ENSP00000315950:L82I;ENSP00000385285:L82I;ENSP00000308894:L82I;ENSP00000376499:L82I;ENSP00000376497:L82I;ENSP00000341185:L82I	ENSP00000308894:L82I	L	+	1	0	RNF32	156130182	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.029000	0.64121	2.403000	0.81681	0.655000	0.94253	CTT		0.353	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		16	658	1	0	4.16121e-05	4.16121e-05	0.00757574	16	658					A	156437421	C	A	156437421	3	1	121	1	0	0	0	0	1	0	0	0	13538	913	32	3	250	3	RNF32	7	156437421	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	906348	156437421	2701242	98	37956											
RP1L1	94137	broad.mit.edu	37	chr8	10465247	10465247	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggctgggcctccccttcagTctctggggcctctatacctt	10	15	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:10465247T>C	ENST00000382483.3	-	4	6584	c.6361A>G	c.(6361-6363)Act>Gct	p.T2121A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2201	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)		TCCCCTTCAGTCTCTGGGGCC	0.622																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6361-6363)Act>Gct		retinitis pigmentosa 1-like 1							157	171	166					8																	10465247		1889	4094	5983	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465247T>C	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.6361A>G	8.37:g.10465247T>C	ENSP00000371923:p.Thr2121Ala						p.T2121A	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6584	-			2121					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6361A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	0.211	-1.036742	0.02013	.	.	ENSG00000183638	ENST00000382483	T	0.04758	3.56	1.62	-1.31	0.09230	.	.	.	.	.	T	0.01320	0.0043	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45352	-0.9267	9	0.06099	T	0.92	.	3.4342	0.07440	0.0:0.4695:0.2141:0.3164	.	2121	A6NKC6	.	A	2121	ENSP00000371923:T2121A	ENSP00000371923:T2121A	T	-	1	0	RP1L1	10502657	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-5.720000	0.00102	-0.477000	0.06832	-1.558000	0.00888	ACT		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			7	916	0	0	0	3.86212e-05	0	7	916					C	10465247	T	C	10465247	3	2	121	1	0	0	0	0	1	0	0	0	13583	1667	58	4	845	4	RP1L1	8	10465247	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08		10465247	135898775	99	37957											
C8orf34	116328	broad.mit.edu	37	chr8	69552683	69552683	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaatttaaccaaggccGtcctacttaccctgctgagc	8	13	0	1	rs548341726		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:69552683G>A	ENST00000539993.1	+	8	1469	c.920G>A	c.(919-921)cGt>cAt	p.R307H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R282H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	307										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)			AACCAAGGCCGTCCTACTTAC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16058	0.001		0.0	False		,,,				2504	0.0					ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(844-846)cGt>cAt		chromosome 8 open reading frame 34							98	90	92					8																	69552683		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69552683G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.920G>A	8.37:g.69552683G>A	ENSP00000438159:p.Arg307His					C8orf34_ENST00000539993.1_Missense_Mutation_p.R307H|C8orf34_ENST00000518698.1_Missense_Mutation_p.R393H|C8orf34_ENST00000325233.3_Missense_Mutation_p.R51H	p.R282H			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	2437	+			307					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.845G>A		.	.	.	.	.	.	.	.	.	.	G	26.0	4.691944	0.88735	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.63913	0.66;0.71;0.7;-0.07	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77157	0.4089	L	0.56769	1.78	0.52099	D	0.999942	D	0.89917	1.0	D	0.83275	0.996	T	0.75158	-0.3416	9	.	.	.	-10.9267	19.3134	0.94202	0.0:0.0:1.0:0.0	.	307	Q49A92	CH034_HUMAN	H	393;307;282;51	ENSP00000427820:R393H;ENSP00000438159:R307H;ENSP00000337174:R282H;ENSP00000319532:R51H	.	R	+	2	0	C8orf34	69715237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.376000	0.97181	2.567000	0.86603	0.585000	0.79938	CGT		0.413	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		39	462	0	0	0	6.26518e-05	0	39	462					A	69552683	G	A	69552683	3	1	121	1	0	0	0	0	1	0	0	0	2429	1145	40	1	871	1	C8orf34	8	69552683	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	59087436	69552683	76811339	100	37958											
RIMS2	9699	broad.mit.edu	37	chr8	105257203	105257203	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacagaaacaggcctggccGtggaaatgaggaactggatg	15	7	0	2	rs377163259		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:105257203G>A	ENST00000436393.2	+	24	3689	c.3448G>A	c.(3448-3450)Gtg>Atg	p.V1150M	RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000507740.1_Missense_Mutation_p.V946M			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1194					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)			AGGCCTGGCCGTGGAAATGAG	0.463										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2836-2838)Gtg>Atg		regulating synaptic membrane exocytosis 2		G	MET/VAL,MET/VAL	0,4038		0,0,2019	129	136	133		2836,3394	5.1	1	8		133	1,8363		0,1,4181	no	missense,missense	RIMS2	NM_014677.4,NM_001100117.2	21,21	0,1,6200	AA,AG,GG		0.012,0.0,0.0081	benign,benign	946/1164,1132/1350	105257203	1,12401	2019	4182	6201	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105257203G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3448G>A	8.37:g.105257203G>A	ENSP00000390665:p.Val1150Met	HNSCC(12;0.0054)				RIMS2_ENST00000339750.2_Missense_Mutation_p.V68M|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971M|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132M|RIMS2_ENST00000436393.2_Missense_Mutation_p.V1150M	p.V946M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		18	3072	+			1194					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2836G>A		.	.	.	.	.	.	.	.	.	.	G	16.59	3.166677	0.57476	0.0	1.2E-4	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.21361	2.58;2.28;2.27;2.03;2.48;2.02;2.01	5.05	5.05	0.67936	.	.	.	.	.	T	0.28797	0.0714	L	0.43152	1.355	0.58432	D	0.999996	D;P;D;B;B	0.56035	0.974;0.669;0.966;0.161;0.161	P;B;P;B;B	0.49047	0.499;0.032;0.599;0.024;0.024	T	0.01051	-1.1468	9	0.44086	T	0.13	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	1194;1150;971;946;1132	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	M	1169;1132;1194;971;946;1139;1150;68;68	ENSP00000384892:V1132M;ENSP00000262231:V971M;ENSP00000423559:V946M;ENSP00000386228:V1139M;ENSP00000390665:V1150M;ENSP00000428478:V68M;ENSP00000342051:V68M	ENSP00000262231:V971M	V	+	1	0	RIMS2	105326379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.807000	0.86032	2.623000	0.88846	0.650000	0.86243	GTG		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		108	613	0	0	0	2.47226e-05	0	108	613					A	105257203	G	A	105257203	3	1	121	1	0	0	0	0	1	0	0	0	13418	1145	40	1	3668	1	RIMS2	8	105257203	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	35704520	105257203	41106819	101	37959											
ATAD2	29028	broad.mit.edu	37	chr8	124348766	124348766	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctttattacagtgacataatCaggaacctaaaattcaagca	5	8	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:124348766C>A	ENST00000287394.5	-	22	3165	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1020	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)			GTGACATAATCAGGAACCTAA	0.328																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(3058-3060)Gat>Tat		ATPase family, AAA domain containing 2							100	94	96					8																	124348766		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124348766C>A	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.3058G>T	8.37:g.124348766C>A	ENSP00000287394:p.Asp1020Tyr					ATAD2_ENST00000521903.1_Missense_Mutation_p.D338Y	p.D1020Y	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		22	3165	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1020			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3058G>T	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874991	0.91664	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.28069	1.63;1.63	5.89	5.89	0.94794	Bromodomain (6);	0.000000	0.85682	D	0.000000	T	0.74989	0.3789	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85104	0.0959	10	0.87932	D	0	-27.9514	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1020	Q6PL18	ATAD2_HUMAN	Y	1020;338	ENSP00000287394:D1020Y;ENSP00000429213:D338Y	ENSP00000287394:D1020Y	D	-	1	0	ATAD2	124417947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT		0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		21	761	1	0	4.4004e-07	5.49717e-05	0.00012363	21	761					A	124348766	C	A	124348766	3	1	121	1	0	0	0	0	1	0	0	0	1072	826	29	3	1142	3	ATAD2	8	124348766	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	19091563	124348766	22015256	102	37960											
CYC1	1537	broad.mit.edu	37	chr8	145150875	145150876	+	Frame_Shift_Ins	INS	-	-	C													gccagtgacctggagctgcaINScccccccagctatccgtggt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr8:145150875_145150876insC	ENST00000318911.4	+	2	342_343	c.269_270insC	c.(268-273)caccccfs	p.HP90fs		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	90					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGAGCTGCACCCCCCCAGCT	0.668											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(268-270)cccfs		cytochrome c-1																																				SO:0001589	frameshift_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150875_145150876insC	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"Mitochondrial respiratory chain complex / Complex III"	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.276dupC	8.37:g.145150882_145150882dupC	ENSP00000317159:p.His90fs		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.P90fs	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	342_343	+	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)		90					Q5U062|Q6FHS7	Frame_Shift_Ins	INS	ENST00000318911.4	37	c.269_270insC	CCDS6415.1																																																																																				0.668	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		27	458						27	458	---	---	---	---	C	145150876	-	C	145150875	7	5	121	1	0	1	1	0	0	0	0	0	4146	159	6	0	275	0	CYC1	8	145150875	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	20802109	145150875	1213147	103	37961											
TOPORS	10210	broad.mit.edu	37	chr9	32542262	32542262	+	Frame_Shift_Del	DEL	T	T	-													acttcctctcactgtgattaTtttttttcctagcatttgtt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:32542262delT	ENST00000360538.2	-	3	2377	c.2261delA	c.(2260-2262)aatfs	p.N755fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	755	Arg-rich.|Interaction with TOP1.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ACTGTGATTATTTTTTTTCCT	0.428																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2260-2262)atfs		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							112	117	115					9																	32542262		2203	4300	6503	SO:0001589	frameshift_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32542262delT	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.2261delA	9.37:g.32542262delT	ENSP00000353735:p.Asn755fs					TOPORS_ENST00000379858.1_Frame_Shift_Del_p.N690fs	p.N755fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	2377	-			755			Arg-rich.|Interaction with TOP1.		O43273|Q6P987|Q9NS55|Q9UNR9	Frame_Shift_Del	DEL	ENST00000360538.2	37	c.2261delA	CCDS6527.1																																																																																				0.428	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	770						7	770	---	---	---	---	-	32542262	T	-	32542262	7	5	121	1	0	1	0	1	0	0	0	0	16423	1493	52	0	880	0	TOPORS	9	32542262	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08		32542262	108671169	104	37962											
RNF38	152006	broad.mit.edu	37	chr9	36339793	36339793	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcatcagctcggcaaaTtgggcaagtacgatttgcct	11	9	1	1	rs200434728		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:36339793T>C	ENST00000259605.6	-	12	1611	c.1504A>G	c.(1504-1506)Att>Gtt	p.I502V	RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000357058.3_Missense_Mutation_p.I419V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	502					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GCTCGGCAAATTGGGCAAGTA	0.378																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11						c.(1255-1257)Att>Gtt		ring finger protein 38							107	81	90					9																	36339793		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36339793T>C		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"RING-type (C3HC4) zinc fingers"	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.1504A>G	9.37:g.36339793T>C	ENSP00000259605:p.Ile502Val					RNF38_ENST00000350199.4_Missense_Mutation_p.I419V|RNF38_ENST00000377885.2_Missense_Mutation_p.I419V|RNF38_ENST00000377877.4_Missense_Mutation_p.I426V|RNF38_ENST00000353739.4_Missense_Mutation_p.I452V|RNF38_ENST00000259605.6_Missense_Mutation_p.I502V	p.I419V	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		12	1861	-			502					A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Missense_Mutation	SNP	ENST00000259605.6	37	c.1255A>G	CCDS6603.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	14.75	2.629377	0.46944	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.55	5.55	0.83447	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	N	0.03948	-0.315	0.80722	D	1	P;B;P	0.48911	0.917;0.124;0.904	D;B;D	0.64321	0.924;0.344;0.924	T	0.52275	-0.8597	10	0.48119	T	0.1	-7.5111	13.6403	0.62246	0.0:0.0:0.0:1.0	.	426;452;502	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	V	502;452;419;419;419;319;426;426	ENSP00000259605:I502V;ENSP00000335239:I452V;ENSP00000367117:I419V;ENSP00000349566:I419V;ENSP00000343947:I419V;ENSP00000367109:I426V	ENSP00000259605:I502V	I	-	1	0	RNF38	36329793	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.381000	0.79718	2.096000	0.63516	0.533000	0.62120	ATT		0.378	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		47	214	0	0	0	2.47226e-05	0	47	214					C	36339793	T	C	36339793	3	2	121	1	0	0	0	0	1	0	0	0	13540	1493	52	4	47	4	RNF38	9	36339793	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	3797531	36339793	104873638	105	37963											
C9orf135	138255	broad.mit.edu	37	chr9	72471475	72471475	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcttctatgtttccagatttGgacatcagaaacacatgaaa	7	8	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72471475G>T	ENST00000377197.3	+	3	353	c.266G>T	c.(265-267)tGg>tTg	p.W89L	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	89						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTCCAGATTTGGACATCAGAA	0.323																																						ENST00000377197.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(265-267)tGg>tTg		chromosome 9 open reading frame 135							61	61	61					9																	72471475		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72471475G>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.266G>T	9.37:g.72471475G>T	ENSP00000366402:p.Trp89Leu					C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.W89L	p.W89L	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN			3	353	+			89					A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.266G>T	CCDS35041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.82|11.82	1.752791|1.752791	0.31046|0.31046	.|.	.|.	ENSG00000204711|ENSG00000204711	ENST00000480564|ENST00000377197;ENST00000527647	.|.	.|.	.|.	5.08|5.08	4.14|4.14	0.48551|0.48551	.|.	.|0.000000	.|0.49916	.|D	.|0.000133	T|T	0.66616|0.66616	0.2807|0.2807	L|L	0.59436|0.59436	1.845|1.845	0.36898|0.36898	D|D	0.890251|0.890251	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.68943	.|0.961;0.948	T|T	0.65487|0.65487	-0.6156|-0.6156	5|9	.|0.16420	.|T	.|0.52	-6.8158|-6.8158	11.6367|11.6367	0.51209|0.51209	0.0:0.178:0.822:0.0|0.0:0.178:0.822:0.0	.|.	.|89;89	.|A7E2U4;Q5VTT2	.|.;CI135_HUMAN	F|L	62|89	.|.	.|ENSP00000366402:W89L	L|W	+|+	3|2	2|0	C9orf135|C9orf135	71661295|71661295	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.031000|0.031000	0.12232|0.12232	3.187000|3.187000	0.50950|0.50950	2.374000|2.374000	0.81015|0.81015	0.585000|0.585000	0.79938|0.79938	TTG|TGG		0.323	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		8	289	1	0	7.48243e-07	2.17888e-05	0.000207656	8	289					T	72471475	G	T	72471475	3	4	121	1	0	0	0	0	1	0	0	0	2465	1357	47	3	276	3	C9orf135	9	72471475	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	36131682	72471475	68741956	106	37964											
MAMDC2	256691	broad.mit.edu	37	chr9	72785470	72785470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tactcaggagaaaagaaaccGgagcagctggcacaggagga	14	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:72785470G>A	ENST00000377182.4	+	11	2191	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	525	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						AAAAGAAACCGGAGCAGCTGG	0.498																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1573-1575)cGg>cAg		MAM domain containing 2							80	76	78					9																	72785470		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72785470G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1574G>A	9.37:g.72785470G>A	ENSP00000366387:p.Arg525Gln					MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA	p.R525Q	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			11	2191	+			525			MAM 4.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1574G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995045	0.74703	.	.	ENSG00000165072	ENST00000377182	T	0.01963	4.53	5.25	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.500904	0.21233	N	0.077953	T	0.02767	0.0083	N	0.16478	0.41	0.43118	D	0.994837	P	0.40602	0.723	B	0.44315	0.446	T	0.67799	-0.5577	10	0.25106	T	0.35	-12.7011	15.9892	0.80188	0.0:0.1352:0.8648:0.0	.	525	Q7Z304	MAMC2_HUMAN	Q	525	ENSP00000366387:R525Q	ENSP00000366387:R525Q	R	+	2	0	MAMDC2	71975290	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.458000	0.66679	1.297000	0.44761	0.491000	0.48974	CGG		0.498	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		6	381	0	0	0	2.0095e-06	0	6	381					A	72785470	G	A	72785470	3	1	121	1	0	0	0	0	1	0	0	0	9244	1116	39	1	1616	1	MAMDC2	9	72785470	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	313995	72785470	68427961	107	37965											
VPS13A	23230	broad.mit.edu	37	chr9	79966298	79966298	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gttttatacatgggctgatcCggtgggctctagaaggctga	14	7	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:79966298C>A	ENST00000360280.3	+	53	7615	c.7355C>A	c.(7354-7356)cCg>cAg	p.P2452Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2452					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						TGGGCTGATCCGGTGGGCTCT	0.433																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(7354-7356)cCg>cAg		vacuolar protein sorting 13 homolog A (S. cerevisiae)							166	163	164					9																	79966298		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79966298C>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7355C>A	9.37:g.79966298C>A	ENSP00000353422:p.Pro2452Gln					VPS13A_ENST00000376636.3_Missense_Mutation_p.P2413Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.P2452Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2452Q	p.P2452Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			53	7615	+			2452					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.7355C>A	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532140	0.85812	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.49	5.49	0.81192	Vacuolar protein sorting-associated protein (1);	0.068668	0.64402	D	0.000010	D	0.82765	0.5108	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.998	D	0.85611	0.1258	10	0.87932	D	0	.	18.9616	0.92679	0.0:1.0:0.0:0.0	.	2413;2452;2452;2452	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	2452;2413;2452;2452	ENSP00000365821:P2452Q;ENSP00000365823:P2413Q;ENSP00000353422:P2452Q;ENSP00000349985:P2452Q	ENSP00000349985:P2452Q	P	+	2	0	VPS13A	79156118	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.178000	0.71968	2.563000	0.86464	0.555000	0.69702	CCG		0.433	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		12	963	1	0	1.58986e-06	3.86212e-05	0.000423164	12	963					A	79966298	C	A	79966298	3	1	121	1	0	0	0	0	1	0	0	0	17243	652	23	3	7565	3	VPS13A	9	79966298	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7180828	79966298	61247133	108	37966											
TLE1	7088	broad.mit.edu	37	chr9	84208113	84208113	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcatgccgggggattcCgggtccgatgagggcgtcgg	20	10	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:84208113C>A	ENST00000376499.3	-	15	2472	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	470					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						CGGGGGATTCCGGGTCCGATG	0.592																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1408-1410)Gga>Tga		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							102	98	99					9																	84208113		2203	4300	6503	SO:0001587	stop_gained	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208113C>A		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.1408G>T	9.37:g.84208113C>A	ENSP00000365682:p.Gly470*						p.G470*	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			15	2472	-			470					A8K495|Q5T3G4|Q969V9	Nonsense_Mutation	SNP	ENST00000376499.3	37	c.1408G>T	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	c	49	15.038241	0.99820	.	.	ENSG00000196781	ENST00000376499	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4443	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000365682:G470X	G	-	1	0	TLE1	83397933	1.000000	0.71417	0.964000	0.40570	0.971000	0.66376	6.079000	0.71291	2.832000	0.97577	0.655000	0.94253	GGA		0.592	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		10	554	1	0	1.58986e-06	3.86212e-05	0.000423164	10	554					A	84208113	C	A	84208113	4	1	121	1	0	0	0	0	0	1	0	0	15990	661	23	3	928	3	TLE1	9	84208113	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4241815	84208113	57005318	109	37967											
CENPP	401541	broad.mit.edu	37	chr9	95099894	95099894	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttacatttcaacttgaatttCagattctggaaattcaggta	6	6	4	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:95099894C>A	ENST00000375587.3	+	3	876	c.361C>A	c.(361-363)Cag>Aag	p.Q121K		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	121					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ACTTGAATTTCAGATTCTGGA	0.343																																						ENST00000375587.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(361-363)Cag>Aag		centromere protein P							86	91	89					9																	95099894		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95099894C>A	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.361C>A	9.37:g.95099894C>A	ENSP00000364737:p.Gln121Lys						p.Q121K	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN			3	876	+			121					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.361C>A	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573854	0.45902	.	.	ENSG00000188312	ENST00000375587;ENST00000402724	.	.	.	5.11	3.2	0.36748	.	0.248287	0.32703	N	0.005743	T	0.58807	0.2148	L	0.50333	1.59	0.80722	D	1	P;P	0.46859	0.749;0.885	P;P	0.48770	0.492;0.589	T	0.59804	-0.7385	9	0.48119	T	0.1	-5.334	13.3941	0.60840	0.0:0.6865:0.3135:0.0	.	121;80	Q6IPU0;Q7Z672	CENPP_HUMAN;.	K	121;80	.	ENSP00000364737:Q121K	Q	+	1	0	CENPP	94139715	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.696000	0.37773	0.770000	0.33336	0.655000	0.94253	CAG		0.343	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		14	975	1	0	3.45872e-05	3.45872e-05	0.00669873	14	975					A	95099894	C	A	95099894	3	1	121	1	0	0	0	0	1	0	0	0	3249	827	29	3	371	3	CENPP	9	95099894	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	10891781	95099894	46113537	110	37968											
CEP110	11064	broad.mit.edu	37	chr9	123875984	123875985	+	Frame_Shift_Ins	INS	-	-	A													cacgcaactggaagacaaagINSaaaaaaaaataagtgcaggt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:123875984_123875985insA	ENST00000373855.1	+	10	1587_1588	c.1327_1328insA	c.(1327-1329)gaafs	p.E443fs	CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.E443fs|CNTRL_ENST00000373865.2_Frame_Shift_Ins_p.E443fs			Q7Z7A1	CNTRL_HUMAN	centriolin	443					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						GGAAGACAAAGAAAAAAAAATA	0.322																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1327-1329)aaafs		centriolin																																				SO:0001589	frameshift_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875984_123875985insA	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.1336dupA	9.37:g.123875993_123875993dupA	ENSP00000362962:p.Glu443fs					CNTRL_ENST00000238341.5_Frame_Shift_Ins_p.K443fs|CNTRL_ENST00000373865.2_Frame_Shift_Ins_p.K443fs	p.K443fs			Q7Z7A1	CNTRL_HUMAN			10	1587_1588	+			443					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Frame_Shift_Ins	INS	ENST00000373855.1	37	c.1327_1328insA	CCDS35118.1																																																																																				0.322	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		7	285						7	285	---	---	---	---	A	123875985	-	A	123875984	7	5	121	1	0	1	1	0	0	0	0	0	3254	943	33	0	1357	0	CEP110	9	123875984	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	28776090	123875984	17337447	111	37969											
RABGAP1	23637	broad.mit.edu	37	chr9	125835869	125835869	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcagtgttctggtcaagatCatgtttgactatgggctcag	11	7	5	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:125835869C>A	ENST00000373647.4	+	16	2156	c.2022C>A	c.(2020-2022)atC>atA	p.I674I	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_Silent_p.I13I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	674	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						TGGTCAAGATCATGTTTGACT	0.438																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(2020-2022)atC>atA		RAB GTPase activating protein 1							171	162	165					9																	125835869		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125835869C>A	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.2022C>A	9.37:g.125835869C>A						RABGAP1_ENST00000373643.5_Silent_p.I13I|RABGAP1_ENST00000493854.1_3'UTR	p.I674I	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			16	2156	+			674			Rab-GAP TBC.		B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.2022C>A	CCDS6848.2																																																																																				0.438	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		18	982	1	0	2.31682e-05	2.31682e-05	0.00456484	18	982					A	125835869	C	A	125835869	2	1	121	1	0	0	0	0	0	0	0	1	13014	816	29	3		3	RABGAP1	9	125835869	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1959885	125835869	15377562	112	37970											
DENND1A	57706	broad.mit.edu	37	chr9	126146178	126146178	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgactccctgagtgtcCgatacggctgcggcctgtcg	13	13	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:126146178C>A	ENST00000373624.2	-	21	1793	c.1592G>T	c.(1591-1593)cGg>cTg	p.R531L	DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	531					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						CCTGAGTGTCCGATACGGCTG	0.662																																						ENST00000373624.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1591-1593)cGg>cTg		DENN/MADD domain containing 1A							60	60	60					9																	126146178		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126146178C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1592G>T	9.37:g.126146178C>A	ENSP00000362727:p.Arg531Leu					DENND1A_ENST00000394219.3_Missense_Mutation_p.R542L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Missense_Mutation_p.R316L	p.R531L	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN			21	1793	-			531					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1592G>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290799	0.40494	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.30714	3.13;1.52;2.83	4.89	4.89	0.63831	.	0.188343	0.45361	D	0.000366	T	0.51822	0.1697	M	0.72118	2.19	0.80722	D	1	P;P;P;D	0.65815	0.738;0.612;0.478;0.995	B;B;B;P	0.59357	0.38;0.253;0.129;0.856	T	0.52373	-0.8584	10	0.41790	T	0.15	-6.3349	18.1242	0.89581	0.0:1.0:0.0:0.0	.	542;532;531;394	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	L	531;316;542	ENSP00000362727:R531L;ENSP00000437457:R316L;ENSP00000377766:R542L	ENSP00000362727:R531L	R	-	2	0	DENND1A	125185999	1.000000	0.71417	0.972000	0.41901	0.158000	0.22134	1.211000	0.32382	2.265000	0.75225	0.555000	0.69702	CGG		0.662	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		8	455	1	0	1.12685e-05	1.12685e-05	0.00245395	8	455					A	126146178	C	A	126146178	3	1	121	1	0	0	0	0	1	0	0	0	4442	652	23	3	1445	3	DENND1A	9	126146178	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	310309	126146178	15067253	113	37971											
NUP214	8021	broad.mit.edu	37	chr9	134003840	134003840	+	Frame_Shift_Del	DEL	T	T	-													gaatatggttccattattgcTttttttgatgttcgcacatt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr9:134003840delT	ENST00000359428.5	+	3	507	c.363delT	c.(361-363)gctfs	p.A121fs	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000411637.2_Frame_Shift_Del_p.A121fs|NUP214_ENST00000451030.1_Frame_Shift_Del_p.A121fs			P35658	NU214_HUMAN	nucleoporin 214kDa	121	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCATTATTGCTTTTTTTGATG	0.398			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"DEK, SET, ABL1"		"AML, T-ALL"		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(361-363)gcfs		nucleoporin 214kDa							243	197	213					9																	134003840		2203	4300	6503	SO:0001589	frameshift_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134003840delT	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.363delT	9.37:g.134003840delT	ENSP00000352400:p.Ala121fs					NUP214_ENST00000411637.2_Frame_Shift_Del_p.A121fs|NUP214_ENST00000451030.1_Frame_Shift_Del_p.A121fs	p.A121fs			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	3	507	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	121					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Frame_Shift_Del	DEL	ENST00000359428.5	37	c.363delT	CCDS6940.1																																																																																				0.398	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	738						8	738	---	---	---	---	-	134003840	T	-	134003840	7	5	121	1	0	1	0	1	0	0	0	0	10804	1596	56	0	373	0	NUP214	9	134003840	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	7857662	134003840	7209591	114	37972											
IDI1	3422	broad.mit.edu	37	chr10	1087287	1087287	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcttttagttcttcctttGacacataacaatagctttta	4	8	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:1087287G>T	ENST00000381344.3	-	5	861	c.695C>A	c.(694-696)tCa>tAa	p.S232*	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	175					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)		TTCTTCCTTTGACACATAACA	0.348																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(694-696)tCa>tAa		isopentenyl-diphosphate delta isomerase 1							93	94	94					10																	1087287		2202	4299	6501	SO:0001587	stop_gained	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1087287G>T	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.695C>A	10.37:g.1087287G>T	ENSP00000370748:p.Ser232*					IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR	p.S232*	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	5	861	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	175					B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	Nonsense_Mutation	SNP	ENST00000381344.3	37	c.695C>A	CCDS7056.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401817	0.96030	.	.	ENSG00000067064	ENST00000381344	.	.	.	5.72	5.72	0.89469	.	0.564741	0.19803	N	0.105709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3922	20.2504	0.98404	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000370748:S232X	S	-	2	0	IDI1	1077287	1.000000	0.71417	0.948000	0.38648	0.595000	0.36748	5.650000	0.67944	2.850000	0.98022	0.650000	0.86243	TCA		0.348	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		13	466	1	0	5.01169e-05	5.01169e-05	0.00884117	13	466					T	1087287	G	T	1087287	4	4	121	1	0	0	0	0	0	1	0	0	7529	1294	45	3	163	3	IDI1	10	1087287	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		1087287	134447460	115	37973											
BTAF1	9044	broad.mit.edu	37	chr10	93786913	93786913	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggttaacgtataccgattGataaccagaggaacattgga	11	6	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:93786913G>T	ENST00000265990.6	+	37	5570	c.5262G>T	c.(5260-5262)ttG>ttT	p.L1754F	BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1754	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)				TATACCGATTGATAACCAGAG	0.378																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(5260-5262)ttG>ttT		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							108	108	108					10																	93786913		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93786913G>T	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.5262G>T	10.37:g.93786913G>T	ENSP00000265990:p.Leu1754Phe					BTAF1_ENST00000544642.1_Missense_Mutation_p.L582F	p.L1754F	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN			37	5570	+		Colorectal(252;0.0846)	1754			Helicase C-terminal.		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.5262G>T	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857996	0.71834	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.79033	-1.23;-1.23	5.52	2.63	0.31362	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.81754	0.4889	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80139	-0.1507	10	0.62326	D	0.03	-8.1932	7.3657	0.26772	0.2012:0.1222:0.6766:0.0	.	1754	O14981	BTAF1_HUMAN	F	1754;582;604	ENSP00000265990:L1754F;ENSP00000439924:L582F	ENSP00000265990:L1754F	L	+	3	2	BTAF1	93776893	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	2.707000	0.47143	0.814000	0.34374	0.561000	0.74099	TTG		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		68	373	1	0	7.33394e-39	2.47226e-05	2.30205e-36	68	373					T	93786913	G	T	93786913	3	4	121	1	0	0	0	0	1	0	0	0	1540	1281	45	3	5408	3	BTAF1	10	93786913	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	92699626	93786913	41747834	116	37974											
NT5C2	22978	broad.mit.edu	37	chr10	104849436	104849438	+	In_Frame_Del	DEL	TCC	TCC	-													ttggttttcctccttattctTcctcctcctcctcctcttca					rs537259520	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:104849436_104849438delTCC	ENST00000404739.3	-	17	1700_1702	c.1677_1679delGGA	c.(1675-1680)gaggaa>gaa	p.559_560EE>E	CNNM2_ENST00000369878.4_3'UTR|NT5C2_ENST00000343289.5_In_Frame_Del_p.559_560EE>E|NT5C2_ENST00000423468.2_In_Frame_Del_p.530_531EE>E|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	559	Asp/Glu-rich (acidic).				cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	tccttattcttcctcctcctcct	0.502														3	0.000599042	0.0008	0.0	5008	,	,		18489	0.0		0.001	False		,,,				2504	0.001					ENST00000343289.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16						c.(1675-1680)gaa>ga		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)																																			SO:0001651	inframe_deletion	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104849436_104849438delTCC	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"purine 5' nucleotidase"	600417	"5'-nucleotidase (purine), cytosolic type B"	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1677_1679delGGA	10.37:g.104849445_104849447delTCC	ENSP00000383960:p.Glu561del					NT5C2_ENST00000423468.2_In_Frame_Del_p.EE530del|NT5C2_ENST00000404739.3_In_Frame_Del_p.EE559del|NT5C2_ENST00000369857.4_5'UTR	p.EE559del	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	18	1764_1766	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	559			Asp/Glu-rich (acidic).		B7Z382|D3DR91|Q5JUV5	In_Frame_Del	DEL	ENST00000404739.3	37	c.1677_1679delGGA	CCDS7544.1																																																																																				0.502	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		8	214						8	214	---	---	---	---	-	104849438	TCC	-	104849436	7	5	121	1	0	1	0	1	0	0	0	0	10729	1783	62	0	10	0	NT5C2	10	104849436	In_Frame_Del	DEL	TCC	TCGA-XN-A8T3-01A-11D-A36O-08	11062523	104849436	30685311	117	37975											
PDCD11	22984	broad.mit.edu	37	chr10	105203711	105203711	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accggatgctgaagcgtttcCggcaggagaaagctgtgtgg	16	8	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr10:105203711C>A	ENST00000369797.3	+	34	5258	c.5164C>A	c.(5164-5166)Cgg>Agg	p.R1722R		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1722					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)		GAAGCGTTTCCGGCAGGAGAA	0.587																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(5164-5166)Cgg>Agg		programmed cell death 11							93	92	92					10																	105203711		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105203711C>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5164C>A	10.37:g.105203711C>A							p.R1722R	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	34	5258	+		Colorectal(252;0.0747)|Breast(234;0.128)	1722					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.5164C>A	CCDS31276.1																																																																																				0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	646	1	0	3.07112e-06	3.07112e-06	0.000789711	10	646					A	105203711	C	A	105203711	2	1	121	1	0	0	0	0	0	0	0	1	11659	643	23	3		3	PDCD11	10	105203711	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	354275	105203711	30331036	118	37976											
KCNA4	3739	broad.mit.edu	37	chr11	30033831	30033833	+	In_Frame_Del	DEL	TCC	TCC	-													ttccctcctcttcctcctctTcctcctcctcctcatcttcc					rs369906337|rs375595700	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:30033831_30033833delTCC	ENST00000328224.6	-	2	1626_1628	c.393_395delGGA	c.(391-396)gaggaa>gaa	p.131_132EE>E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	131	Poly-Glu.				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)	ttcctcctcttcctcctcctcct	0.562																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(391-396)gaa>ga		potassium voltage-gated channel, shaker-related subfamily, member 4																																				SO:0001651	inframe_deletion	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033831_30033833delTCC	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.393_395delGGA	11.37:g.30033840_30033842delTCC	ENSP00000328511:p.Glu137del						p.EE135del	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	1626_1628	-			135			Poly-Glu.			In_Frame_Del	DEL	ENST00000328224.6	37	c.393_395delGGA	CCDS41629.1																																																																																				0.562	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		7	175						7	175	---	---	---	---	-	30033833	TCC	-	30033831	7	5	121	1	0	1	0	1	0	0	0	0	8035	1783	62	0	1570	0	KCNA4	11	30033831	In_Frame_Del	DEL	TCC	TCGA-XN-A8T3-01A-11D-A36O-08		30033831	104972685	119	37977											
ZFP91	80829	broad.mit.edu	37	chr11	58379764	58379764	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	attacaggagaggaagaagaCgaaaagatgacaaaagtcca	11	5	0	5			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:58379764C>T	ENST00000316059.6	+	7	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*|AP001350.1_ENST00000601906.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	291					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)				AGGAAGAAGACGAAAAGATGA	0.418																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(871-873)Cga>Tga		ZFP91 zinc finger protein							101	92	95					11																	58379764		2201	4295	6496	SO:0001587	stop_gained	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58379764C>T	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.871C>T	11.37:g.58379764C>T	ENSP00000339030:p.Arg291*					ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.R291*	p.R291*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			7	1042	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	291					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Nonsense_Mutation	SNP	ENST00000316059.6	37	c.871C>T	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	38	6.963557	0.97967	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	.	.	.	5.69	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-6.2665	11.456	0.50183	0.3271:0.6729:0.0:0.0	.	.	.	.	X	291	.	ENSP00000374569:R291X	R	+	1	2	ZFP91	58136340	0.985000	0.35326	1.000000	0.80357	0.992000	0.81027	0.526000	0.22971	1.346000	0.45694	0.650000	0.86243	CGA		0.418	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		26	238	0	0	0	4.66903e-05	0	26	238					T	58379764	C	T	58379764	4	4	121	1	0	0	0	0	0	1	0	0	17708	528	19	1	897	1	ZFP91	11	58379764	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	28345933	58379764	76626752	120	37978											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	9	11	0	0	rs559230605	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84	93	90					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"cerebello-oculo-renal syndrome 2", "Meckel syndrome, type 2"	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	23	200	0	0	0	1.17478e-05	0	23	200					G	61161357	T	G	61161357	5	3	121	1	0	0	0	0	0	0	1	0	16191	1710	59	4	148	4	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	2781593	61161357	73845159	121	37979											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					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						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	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.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		8	1058						8	1058	---	---	---	---	A	63149669	-	A	63149668	7	5	121	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	1988311	63149668	71856848	122	37980											
CCDC88B	283234	broad.mit.edu	37	chr11	64111636	64111636	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ccggcattagactcagtgctCgaggcatcagctgagtgtcc	12	12	2	2	rs201469975		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:64111636C>A	ENST00000356786.5	+	14	1667	c.1623C>A	c.(1621-1623)ctC>ctA	p.L541L	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	541						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						ACTCAGTGCTCGAGGCATCAG	0.632																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1621-1623)ctC>ctA		coiled-coil domain containing 88B							60	66	64					11																	64111636		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64111636C>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1623C>A	11.37:g.64111636C>A						CCDC88B_ENST00000463837.1_3'UTR	p.L541L	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	1667	+			541					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.1623C>A	CCDS8072.2																																																																																				0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		9	517	1	0	3.86212e-05	3.86212e-05	0.00711662	9	517					A	64111636	C	A	64111636	2	1	121	1	0	0	0	0	0	0	0	1	2871	871	31	3		3	CCDC88B	11	64111636	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	961968	64111636	70894880	123	37981											
PPFIA1	8500	broad.mit.edu	37	chr11	70172768	70172768	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtaattgagctccaagaaatCataagtaagcagtcaaggga	10	6	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:70172768C>A	ENST00000253925.7	+	7	989	c.774C>A	c.(772-774)atC>atA	p.I258I	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.I258I|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	258					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)			TCCAAGAAATCATAAGTAAGC	0.433																																						ENST00000253925.7																			0				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						c.(772-774)atC>atA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							191	201	197					11																	70172768		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172768C>A	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.774C>A	11.37:g.70172768C>A						PPFIA1_ENST00000389547.3_Silent_p.I258I|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	p.I258I	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		7	989	+			258					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.774C>A	CCDS31627.1																																																																																				0.433	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		28	1323	1	0	2.27731e-05	2.27731e-05	0.00456484	28	1323					A	70172768	C	A	70172768	2	1	121	1	0	0	0	0	0	0	0	1	12351	816	29	3		3	PPFIA1	11	70172768	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	6061132	70172768	64833748	124	37982											
NADSYN1	55191	broad.mit.edu	37	chr11	71189504	71189504	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acagggcggagatttcatctCgaaacctggcggtgagtgct	14	9	2	2	rs547470892	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr11:71189504C>A	ENST00000319023.2	+	10	1050	c.862C>A	c.(862-864)Cga>Aga	p.R288R	NADSYN1_ENST00000530055.1_5'Flank|NADSYN1_ENST00000539574.1_Silent_p.R28R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	288	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				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)	GATTTCATCTCGAAACCTGGC	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		18967	0.0		0.0	False		,,,				2504	0.002				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(862-864)Cga>Aga		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						48	44	45					11																	71189504		2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71189504C>A	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.862C>A	11.37:g.71189504C>A						NADSYN1_ENST00000539574.1_Silent_p.R28R	p.R288R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN			10	1050	+			288			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.862C>A	CCDS8201.1																																																																																				0.577	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		5	61	1	0	3.59834e-05	3.59834e-05	0.00691032	5	61					A	71189504	C	A	71189504	2	1	121	1	0	0	0	0	0	0	0	1	10179	876	31	3		3	NADSYN1	11	71189504	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1016736	71189504	63817012	125	37983											
DCP1B	196513	broad.mit.edu	37	chr12	2062397	2062397	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtttcctgacatgtagcttTgtcctgcttcccaaacagag	8	11	0	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:2062397T>C	ENST00000280665.6	-	7	788	c.709A>G	c.(709-711)Aaa>Gaa	p.K237E	DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CATGTAGCTTTGTCCTGCTTC	0.488																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(709-711)Aaa>Gaa		decapping mRNA 1B							56	59	58					12																	2062397		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062397T>C	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.709A>G	12.37:g.2062397T>C	ENSP00000280665:p.Lys237Glu					DCP1B_ENST00000540622.1_Missense_Mutation_p.K111E|DCP1B_ENST00000397173.4_Missense_Mutation_p.K135E|DCP1B_ENST00000541700.1_5'UTR	p.K237E	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	788	-			237					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.709A>G	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579542	0.46006	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19669	2.19;2.18;2.13	4.93	3.79	0.43588	.	0.725582	0.14262	N	0.330731	T	0.29223	0.0727	M	0.67953	2.075	0.38015	D	0.934657	P;P	0.47762	0.884;0.9	P;B	0.46419	0.516;0.334	T	0.16041	-1.0416	10	0.62326	D	0.03	-2.4726	9.7109	0.40245	0.0:0.0816:0.0:0.9184	.	135;237	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	E	237;135;111	ENSP00000280665:K237E;ENSP00000380358:K135E;ENSP00000444374:K111E	ENSP00000280665:K237E	K	-	1	0	DCP1B	1932658	0.998000	0.40836	0.662000	0.29724	0.161000	0.22273	2.946000	0.49050	0.912000	0.36772	0.528000	0.53228	AAA		0.488	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		27	204	0	0	0	4.66903e-05	0	27	204					C	2062397	T	C	2062397	3	2	121	1	0	0	0	0	1	0	0	0	4310	1821	63	4	1156	4	DCP1B	12	2062397	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08		2062397	131789498	126	37984											
USP5	8078	broad.mit.edu	37	chr12	6970156	6970156	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcctaatgaagtgttcCgcttcttggtggaggaaaag	11	6	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:6970156C>A	ENST00000229268.8	+	12	1436	c.1384C>A	c.(1384-1386)Cgc>Agc	p.R462S	USP5_ENST00000389231.5_Missense_Mutation_p.R462S|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	462	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)	p.R462S(2)|p.R462C(1)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						TGAAGTGTTCCGCTTCTTGGT	0.537																																						ENST00000229268.8																			3	Substitution - Missense(3)	p.R462S(2)|p.R462C(1)	lung(2)|large_intestine(1)	breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1384-1386)Cgc>Agc		ubiquitin specific peptidase 5 (isopeptidase T)							194	197	196					12																	6970156		2203	4300	6503	SO:0001583	missense	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970156C>A	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.1384C>A	12.37:g.6970156C>A	ENSP00000229268:p.Arg462Ser					USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.R462S	p.R462S	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			12	1436	+			462					D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	ENST00000229268.8	37	c.1384C>A	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246490	0.80024	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.30714	1.52;1.52	5.14	5.14	0.70334	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.65677	2.01	0.80722	D	1	D;P	0.89917	1.0;0.593	D;B	0.97110	1.0;0.343	T	0.52064	-0.8625	10	0.42905	T	0.14	-5.2531	18.7977	0.92001	0.0:1.0:0.0:0.0	.	462;462	P45974;P45974-2	UBP5_HUMAN;.	S	462	ENSP00000229268:R462S;ENSP00000373883:R462S	ENSP00000229268:R462S	R	+	1	0	USP5	6840417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.746000	0.55127	2.666000	0.90696	0.561000	0.74099	CGC		0.537	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			13	1274	1	0	4.68919e-08	3.86212e-05	1.38587e-05	13	1274					A	6970156	C	A	6970156	3	1	121	1	0	0	0	0	1	0	0	0	17135	652	23	3	1430	3	USP5	12	6970156	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4907759	6970156	126881739	127	37985											
PRB3	5544	broad.mit.edu	37	chr12	11420496	11420496	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgttgcctccttgtggGggtggtccttctggctttcc	14	10	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:11420496G>A	ENST00000279573.7	-	3	822	c.687C>T	c.(685-687)ccC>ccT	p.P229P	PRB3_ENST00000538488.1_Intron|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	229	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)			CTCCTTGTGGGGGTGGTCCTT	0.632																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							75	12	35					12																	11420496		1758	3173	4931	SO:0001819	synonymous_variant	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420496G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.687C>T	12.37:g.11420496G>A						PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		8	147	0	0	0	2.31682e-05	0	8	147					A	11420496	G	A	11420496	2	1	121	1	0	0	0	0	0	0	0	1	12491	1219	43	2		2	PRB3	12	11420496	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	4450340	11420496	122431399	128	37986											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		78	304	0	0	0	2.47226e-05	0	78	304					T	25398284	C	T	25398284	3	4	121	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	13977788	25398284	108453611	129	37987											
FGD4	121512	broad.mit.edu	37	chr12	32778699	32778699	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacgaaggaggcatcattgtCgagcatgtggatatgtaagt	13	6	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:32778699C>A	ENST00000427716.2	+	14	2171	c.1747C>A	c.(1747-1749)Cga>Aga	p.R583R	FGD4_ENST00000531134.1_Silent_p.R668R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000525053.1_Silent_p.R695R|FGD4_ENST00000266482.3_Silent_p.R335R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	583					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)					GCATCATTGTCGAGCATGTGG	0.383																																						ENST00000427716.2																			0				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						c.(1747-1749)Cga>Aga		FYVE, RhoGEF and PH domain containing 4							139	136	137					12																	32778699		2203	4300	6503	SO:0001819	synonymous_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32778699C>A	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.1747C>A	12.37:g.32778699C>A						FGD4_ENST00000266482.3_Silent_p.R335R|FGD4_ENST00000546442.1_Silent_p.R490R|FGD4_ENST00000525053.1_Silent_p.R695R|FGD4_ENST00000534526.2_Silent_p.R720R|FGD4_ENST00000531134.1_Silent_p.R668R	p.R583R	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN			14	2171	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		583					Q6ULS2|Q8TCP6	Silent	SNP	ENST00000427716.2	37	c.1747C>A	CCDS8727.1																																																																																				0.383	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		17	729	1	0	2.27731e-05	2.27731e-05	0.00456484	17	729					A	32778699	C	A	32778699	2	1	121	1	0	0	0	0	0	0	0	1	5860	876	31	3		3	FGD4	12	32778699	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7380415	32778699	101073196	130	37988											
PLEKHA9	51054	broad.mit.edu	37	chr12	45567702	45567702	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttcattatttcaccttggacGgttatattatcatctgtatt	5	7	4	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:45567702G>T	ENST00000256692.5	-	0	983					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						CACCTTGGACGGTTATATTAT	0.343																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26															95	94	94					12																	45567702		2203	4300	6503			0							g.chr12:45567702G>T	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.45567702G>T								NR_037144.1						0	983	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.343	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		9	579	1	0	3.86212e-05	3.86212e-05	0.00711662	9	579					T	45567702	G	T	45567702	1	4	121	0	1	0	0	0	0	0	0	0	12105	1103	39	3		3	PLEKHA9	12	45567702	RNA	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	12789003	45567702	88284193	131	37989											
SFRS2IP	9169	broad.mit.edu	37	chr12	46320956	46320956	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	actgagaacgggattttttcCggcctctggctgactcattc	10	11	2	2	rs11574972		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:46320956C>A	ENST00000369367.3	-	11	2761	c.2528G>T	c.(2527-2529)cGg>cTg	p.R843L	SCAF11_ENST00000465950.1_Missense_Mutation_p.R528L|SCAF11_ENST00000549162.1_Missense_Mutation_p.R651L|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.R843L	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	843	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						GGATTTTTTCCGGCCTCTGGC	0.478																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(1582-1584)cGg>cTg		SR-related CTD-associated factor 11							114	115	114					12																	46320956		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46320956C>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2528G>T	12.37:g.46320956C>A	ENSP00000358374:p.Arg843Leu					SCAF11_ENST00000369367.3_Missense_Mutation_p.R843L|SCAF11_ENST00000549162.1_Missense_Mutation_p.R651L|SCAF11_ENST00000419565.2_Missense_Mutation_p.R843L	p.R528L			Q99590	SCAFB_HUMAN			1	2792	-			843					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.1583G>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395667	0.62177	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.51574	1.31;2.05;1.31;2.05;0.7	5.93	5.04	0.67666	.	0.404774	0.23900	N	0.043443	T	0.60792	0.2296	M	0.61703	1.905	0.30181	N	0.800444	D;D	0.69078	0.997;0.984	P;P	0.59056	0.851;0.607	T	0.63963	-0.6518	10	0.52906	T	0.07	-2.496	13.3072	0.60359	0.0:0.9274:0.0:0.0726	.	651;843	F8VXG7;Q99590	.;SCAFB_HUMAN	L	528;843;651;843;783	ENSP00000449812:R528L;ENSP00000358374:R843L;ENSP00000448864:R651L;ENSP00000413036:R843L;ENSP00000446746:R783L	ENSP00000358374:R843L	R	-	2	0	SCAF11	44607223	0.912000	0.30974	0.817000	0.32601	0.973000	0.67179	2.628000	0.46477	1.518000	0.48934	0.655000	0.94253	CGG		0.478	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		14	806	1	0	5.01169e-05	5.01169e-05	0.00884117	14	806					A	46320956	C	A	46320956	3	1	121	1	0	0	0	0	1	0	0	0	14227	652	23	3	1883	3	SFRS2IP	12	46320956	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	753254	46320956	87530939	132	37990											
KRT18	3875	broad.mit.edu	37	chr12	53344192	53344192	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gctgctgatgactttagagtCaagtaagtttgggggctaga	14	5	1	4			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:53344192C>A	ENST00000388835.3	+	2	708	c.498C>A	c.(496-498)gtC>gtA	p.V166V	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Silent_p.V166V|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_Silent_p.V166V|KRT8_ENST00000546897.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	166	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACTTTAGAGTCAAGTAAGTTT	0.537																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(496-498)gtC>gtA		keratin 18							201	210	207					12																	53344192		2203	4300	6503	SO:0001819	synonymous_variant	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53344192C>A		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.498C>A	12.37:g.53344192C>A						KRT18_ENST00000388837.2_Silent_p.V166V|KRT18_ENST00000388835.3_Silent_p.V166V	p.V166V			P05783	K1C18_HUMAN			3	552	+			166			Coil 1B.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Silent	SNP	ENST00000388835.3	37	c.498C>A	CCDS31809.1																																																																																				0.537	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		19	1216	1	0	2.31682e-05	2.31682e-05	0.00456484	19	1216					A	53344192	C	A	53344192	2	1	121	1	0	0	0	0	0	0	0	1	8485	813	29	3		3	KRT18	12	53344192	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7023236	53344192	80507703	133	37991											
OR6C74	254783	broad.mit.edu	37	chr12	55641157	55641157	+	Frame_Shift_Del	DEL	T	T	-													ggtgattatttttcttctccTttttttcacctacatgttga							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:55641157delT	ENST00000343870.4	+	1	176	c.86delT	c.(85-87)cttfs	p.L29fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TTTCTTCTCCTTTTTTTCACC	0.378																																						ENST00000343870.4																			0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(85-87)ctfs		olfactory receptor, family 6, subfamily C, member 74							183	177	179					12																	55641157		2203	4300	6503	SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641157delT		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.86delT	12.37:g.55641157delT	ENSP00000342836:p.Leu29fs						p.L29fs	NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN			1	176	+			29						Frame_Shift_Del	DEL	ENST00000343870.4	37	c.86delT	CCDS31816.1																																																																																				0.378	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1			10	703						10	703	---	---	---	---	-	55641157	T	-	55641157	7	5	121	1	0	1	0	1	0	0	0	0	11240	1609	56	0	88	0	OR6C74	12	55641157	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	2296965	55641157	78210738	134	37992											
C12orf64	283310	broad.mit.edu	37	chr12	80749714	80749714	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgataaatggacctgctgttCaaaggaagtttgtggtatgt	12	4	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:80749714C>A	ENST00000547103.1	+	46	5735	c.5729C>A	c.(5728-5730)tCa>tAa	p.S1910*	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Nonsense_Mutation_p.S1922*			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1910	Cys-rich.				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						ACCTGCTGTTCAAAGGAAGTT	0.383																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5764-5766)tCa>tAa		otogelin-like							225	208	213					12																	80749714		1892	4133	6025	SO:0001587	stop_gained	283310							g.chr12:80749714C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5729C>A	12.37:g.80749714C>A	ENSP00000447211:p.Ser1910*					OTOGL_ENST00000547103.1_Nonsense_Mutation_p.S1910*	p.S1922*	NM_173591.3	NP_775862.3					46	5771	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Nonsense_Mutation	SNP	ENST00000547103.1	37	c.5765C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	47|47	13.174025|13.174025	0.99725|0.99725	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|.	.|.	.|.	5.18|5.18	4.28|4.28	0.50868|0.50868	.|.	.|.	.|.	.|.	.|.	T|.	0.62575|.	0.2439|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69499|.	-0.5129|.	3|.	.|.	.|.	.|.	.|.	13.1075|13.1075	0.59255|0.59255	0.0:0.9231:0.0:0.0768|0.0:0.9231:0.0:0.0768	.|.	.|.	.|.	.|.	K|X	365|1910;1922	.|.	.|.	Q|S	+|+	1|2	0|0	OTOGL|OTOGL	79273845|79273845	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.818000|0.818000	0.46254|0.46254	2.234000|2.234000	0.43035|0.43035	2.417000|2.417000	0.82017|0.82017	0.591000|0.591000	0.81541|0.81541	CAA|TCA		0.383	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		17	784	1	0	5.3912e-06	5.3912e-06	0.00130912	17	784					A	80749714	C	A	80749714	4	1	121	1	0	0	0	0	0	1	0	0	1712	838	29	3	5947	3	C12orf64	12	80749714	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	25108557	80749714	53102181	135	37993											
APPL2	55198	broad.mit.edu	37	chr12	105597519	105597519	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acggaggataaaaagctgtcCatacgtttggaaaacatctc	9	8	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:105597519C>A	ENST00000258530.3	-	9	891	c.666G>T	c.(664-666)atG>atT	p.M222I	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).|Poly-Glu.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGCTGTCCATACGTTTGG	0.418																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(664-666)atG>atT		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							169	169	169					12																	105597519		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105597519C>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.666G>T	12.37:g.105597519C>A	ENSP00000258530:p.Met222Ile					APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.M179I|APPL2_ENST00000551662.1_Missense_Mutation_p.M228I	p.M222I	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			9	891	-			222			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.666G>T	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301684	0.40694	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.03920	3.76;3.76;3.76	5.56	5.56	0.83823	.	0.037498	0.85682	D	0.000000	T	0.08714	0.0216	L	0.60455	1.87	0.58432	D	0.999999	B;B;B	0.31209	0.313;0.129;0.129	B;B;B	0.30251	0.113;0.053;0.048	T	0.04900	-1.0919	10	0.59425	D	0.04	-30.1684	17.7181	0.88343	0.0:1.0:0.0:0.0	.	228;179;222	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	I	222;179;228	ENSP00000258530:M222I;ENSP00000444472:M179I;ENSP00000446917:M228I	ENSP00000258530:M222I	M	-	3	0	APPL2	104121649	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.448000	0.66612	2.620000	0.88729	0.655000	0.94253	ATG		0.418	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		20	1020	1	0	4.96729e-08	1.15919e-05	1.44924e-05	20	1020					A	105597519	C	A	105597519	3	1	121	1	0	0	0	0	1	0	0	0	818	594	21	3	1380	3	APPL2	12	105597519	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	24847805	105597519	28254376	136	37994											
SSH1	54434	broad.mit.edu	37	chr12	109212031	109212031	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactgcttcttaccagcttGattctgtcttcgcaacgcag	7	13	4	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:109212031G>T	ENST00000326495.5	-	4	366	c.273C>A	c.(271-273)atC>atA	p.I91I	SSH1_ENST00000551165.1_Silent_p.I91I|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000546812.1_Intron	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	91					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTACCAGCTTGATTCTGTCTT	0.418																																						ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(271-273)atC>atA		slingshot protein phosphatase 1							100	99	99					12																	109212031		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109212031G>T	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.273C>A	12.37:g.109212031G>T						SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000546812.1_Intron|SSH1_ENST00000326470.5_Silent_p.I102I|SSH1_ENST00000551165.1_Silent_p.I91I	p.I91I	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			4	366	-			91					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.273C>A	CCDS9121.1																																																																																				0.418	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		17	775	1	0	1.32003e-05	1.32003e-05	0.00283396	17	775					T	109212031	G	T	109212031	2	4	121	1	0	0	0	0	0	0	0	1	15236	1280	45	3		3	SSH1	12	109212031	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	3614512	109212031	24639864	137	37995											
C12orf52	84934	broad.mit.edu	37	chr12	113624632	113624632	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgccgaggtggctaccgggtCaaggccaggacgtcatatgt	15	10	2	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:113624632C>T	ENST00000548278.1	+	3	773	c.81C>T	c.(79-81)gtC>gtT	p.V27V	C12orf52_ENST00000552495.1_Silent_p.V51V|DDX54_ENST00000306014.5_5'Flank|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.V27V|DDX54_ENST00000314045.7_5'Flank	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		27					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCTACCGGGTCAAGGCCAGGA	0.652																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(79-81)gtC>gtT		chromosome 12 open reading frame 52							51	46	48					12																	113624632		2203	4300	6503	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113624632C>T																												ENST00000548278.1:c.81C>T	12.37:g.113624632C>T						C12orf52_ENST00000549621.1_Silent_p.V27V|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.V51V	p.V27V	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			3	773	+			27					B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.81C>T	CCDS9166.1																																																																																				0.652	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			27	114	0	0	0	1.7367e-05	0	27	114					T	113624632	C	T	113624632	2	4	121	1	0	0	0	0	0	0	0	1	1702	813	29	2		2	C12orf52	12	113624632	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4412601	113624632	20227263	138	37996											
TPCN1	53373	broad.mit.edu	37	chr12	113707611	113707613	+	In_Frame_Del	DEL	CTG	CTG	-													cgcccttcatggacatcctcCtgctgctgctgttcttcatg							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:113707611_113707613delCTG	ENST00000335509.6	+	7	1023_1025	c.709_711delCTG	c.(709-711)ctgdel	p.L240del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L312del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	240					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)	p.L237L(1)		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						GGACATCCTCCTGCTGCTGCTGT	0.601																																						ENST00000550785.1																			1	Substitution - coding silent(1)	p.L237L(1)	large_intestine(1)	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						c.(925-927)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113707611_113707613delCTG	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.709_711delCTG	12.37:g.113707620_113707622delCTG	ENSP00000335300:p.Leu240del					TPCN1_ENST00000541517.1_In_Frame_Del_p.L312del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L172del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L240del	p.L312del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			8	1094_1096	+			240					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.925_927delCTG	CCDS31908.1																																																																																				0.601	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		8	735						8	735	---	---	---	---	-	113707613	CTG	-	113707611	7	5	121	1	0	1	0	1	0	0	0	0	16448	680	24	0	951	0	TPCN1	12	113707611	In_Frame_Del	DEL	CTG	TCGA-XN-A8T3-01A-11D-A36O-08	82979	113707611	20144284	139	37997											
ANAPC5	51433	broad.mit.edu	37	chr12	121773451	121773451	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccggtaagaatcagacgatCaaaataatggaggagactgt	11	6	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:121773451C>A	ENST00000261819.3	-	7	956	c.835G>T	c.(835-837)Gat>Tat	p.D279Y	ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	279					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)					ATCAGACGATCAAAATAATGG	0.448																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(835-837)Gat>Tat		anaphase promoting complex subunit 5							114	113	113					12																	121773451		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121773451C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.835G>T	12.37:g.121773451C>A	ENSP00000261819:p.Asp279Tyr					ANAPC5_ENST00000441917.2_Missense_Mutation_p.D180Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D180Y|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D279Y|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000536366.1_Missense_Mutation_p.D158Y	p.D279Y	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			7	956	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		279					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.835G>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978590	0.92982	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.85234	0.5650	M	0.87328	2.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86425	0.1757	9	0.87932	D	0	.	19.6319	0.95708	0.0:1.0:0.0:0.0	.	180;279	E9PFB2;Q9UJX4	.;APC5_HUMAN	Y	180;279;279;180;158;180	.	ENSP00000261819:D279Y	D	-	1	0	ANAPC5	120257834	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.188000	0.77739	2.890000	0.99128	0.650000	0.86243	GAT		0.448	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			12	655	1	0	7.93312e-07	1.49906e-05	0.000218829	12	655					A	121773451	C	A	121773451	3	1	121	1	0	0	0	0	1	0	0	0	605	826	29	3	1476	3	ANAPC5	12	121773451	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	8065840	121773451	12078444	140	37998											
PITPNM2	57605	broad.mit.edu	37	chr12	123494616	123494616	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cacagggtctttgacaatgtCgatgaagtctgtgggtaaac	12	7	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:123494616C>A	ENST00000542749.1	-	4	487	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Missense_Mutation_p.D142Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	142					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)		TTGACAATGTCGATGAAGTCT	0.567																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(424-426)Gac>Tac		phosphatidylinositol transfer protein, membrane-associated 2							75	75	75					12																	123494616		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494616C>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.424G>T	12.37:g.123494616C>A	ENSP00000437611:p.Asp142Tyr					PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D142Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D142Y|PITPNM2_ENST00000392428.1_Intron	p.D142Y			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	629	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		142					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.424G>T	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527356	0.85706	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000542749	T;T;T	0.72615	-0.67;-0.67;-0.67	4.96	4.96	0.65561	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90184	0.6932	H	0.97465	4.01	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	0.93731	0.7041	10	0.87932	D	0	-45.2378	18.5728	0.91142	0.0:1.0:0.0:0.0	.	142;142;142	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	Y	142	ENSP00000280562:D142Y;ENSP00000322218:D142Y;ENSP00000437611:D142Y	ENSP00000280562:D142Y	D	-	1	0	PITPNM2	122060569	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.609000	0.82925	2.479000	0.83701	0.655000	0.94253	GAC		0.567	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		8	416	1	0	1.12685e-05	1.12685e-05	0.00245395	8	416					A	123494616	C	A	123494616	3	1	121	1	0	0	0	0	1	0	0	0	11993	884	31	3	3709	3	PITPNM2	12	123494616	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1721165	123494616	10357279	141	37999											
PUS1	80324	broad.mit.edu	37	chr12	132426520	132426520	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctcacggcaggtggcacgGgcgccaaggtaggggcacag	17	12	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:132426520G>A	ENST00000376649.3	+	5	1728	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	PUS1_ENST00000542167.2_Missense_Mutation_p.G357S|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	410					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AGGTGGCACGGGCGCCAAGGT	0.612																																					Esophageal Squamous(102;671 2009 17384 45666)	ENST00000542167.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11						c.(1069-1071)Ggc>Agc		pseudouridylate synthase 1							21	16	18					12																	132426520		2196	4280	6476	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132426520G>A	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.1228G>A	12.37:g.132426520G>A	ENSP00000365837:p.Gly410Ser					PUS1_ENST00000376649.3_Missense_Mutation_p.G410S|PUS1_ENST00000443358.2_Missense_Mutation_p.G382S|PUS1_ENST00000440818.2_Missense_Mutation_p.G382S|PUS1_ENST00000535067.1_Intron	p.G357S			Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	4	1822	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		410					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.1069G>A	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378889	0.42207	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167	T;T;T;T;T	0.54279	0.62;0.6;0.58;0.62;0.62	4.58	3.69	0.42338	.	0.639198	0.14819	N	0.296581	T	0.44265	0.1285	L	0.44542	1.39	0.09310	N	1	P;B	0.38078	0.617;0.005	B;B	0.37144	0.242;0.002	T	0.30416	-0.9979	10	0.49607	T	0.09	-10.2033	10.0242	0.42061	0.0981:0.0:0.9019:0.0	.	357;410	F5H1S9;Q9Y606	.;TRUA_HUMAN	S	382;410;382;382;357	ENSP00000392451:G382S;ENSP00000365837:G410S;ENSP00000324726:G382S;ENSP00000400032:G382S;ENSP00000438948:G357S	ENSP00000324726:G382S	G	+	1	0	PUS1	130992473	0.017000	0.18338	0.001000	0.08648	0.009000	0.06853	1.937000	0.40193	1.034000	0.39945	0.491000	0.48974	GGC		0.612	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		8	88	0	0	0	3.86212e-05	0	8	88					A	132426520	G	A	132426520	3	1	121	1	0	0	0	0	1	0	0	0	12880	1232	43	2	1246	2	PUS1	12	132426520	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	8931904	132426520	1425375	142	38000											
ZNF605	100289635	broad.mit.edu	37	chr12	133502222	133502222	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ataggttttctctcctgtgtGatttctttgatgcttaatga	8	6	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr12:133502222G>T	ENST00000360187.4	-	5	2011	c.1663C>A	c.(1663-1665)Cac>Aac	p.H555N	ZNF605_ENST00000331711.7_5'Flank|ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		TCTCCTGTGTGATTTCTTTGA	0.418																																						ENST00000360187.4																			0				breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1663-1665)Cac>Aac		zinc finger protein 605							134	131	132					12																	133502222		2203	4300	6503	SO:0001583	missense	100289635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:133502222G>T	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"Zinc fingers, C2H2-type", "-"	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1663C>A	12.37:g.133502222G>T	ENSP00000353314:p.His555Asn					ZNF605_ENST00000392321.3_Missense_Mutation_p.H586N	p.H555N	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)	5	2011	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)	555					B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	37	c.1663C>A	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534721	0.45073	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.67345	-0.26;-0.26	3.72	2.82	0.32997	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.252780	0.20753	N	0.086306	D	0.82403	0.5029	H	0.95884	3.735	0.34548	D	0.711044	D;P	0.59767	0.986;0.474	P;B	0.55455	0.776;0.099	D	0.88781	0.3271	10	0.72032	D	0.01	.	10.1991	0.43073	0.1017:0.0:0.8983:0.0	.	586;555	B3KVG4;Q86T29	.;ZN605_HUMAN	N	555;586	ENSP00000353314:H555N;ENSP00000376135:H586N	ENSP00000353314:H555N	H	-	1	0	ZNF605	132012295	1.000000	0.71417	0.933000	0.37362	0.587000	0.36485	6.182000	0.71995	0.909000	0.36697	0.462000	0.41574	CAC		0.418	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238		13	586	1	0	2.31682e-05	2.31682e-05	0.00456484	13	586					T	133502222	G	T	133502222	3	4	121	1	0	0	0	0	1	0	0	0	18084	1290	45	3	266	3	ZNF605	12	133502222	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1075702	133502222	349673	143	38001											
SGCG	6445	broad.mit.edu	37	chr13	23869565	23869565	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgtttagggcctgaagggGctctttttgaacattcagtg	12	6	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:23869565G>A	ENST00000218867.3	+	6	641	c.517G>A	c.(517-519)Gct>Act	p.A173T	SGCG_ENST00000537476.1_Missense_Mutation_p.A173T|SGCG_ENST00000545013.1_Missense_Mutation_p.A173T	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	173					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GCCTGAAGGGGCTCTTTTTGA	0.373																																						ENST00000218867.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(517-519)Gct>Act		sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)							155	158	157					13																	23869565		2203	4300	6503	SO:0001583	missense	6445				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr13:23869565G>A	U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.517G>A	13.37:g.23869565G>A	ENSP00000218867:p.Ala173Thr					SGCG_ENST00000545013.1_Missense_Mutation_p.A173T|SGCG_ENST00000537476.1_Missense_Mutation_p.A173T	p.A173T	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)	6	641	+		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)	173					Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	c.517G>A	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182474	0.57800	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.95307	-3.67;-3.67;-3.67	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.75447	2.3	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	D	0.94976	0.8121	10	0.23891	T	0.37	-20.3547	13.2912	0.60272	0.0:0.0:1.0:0.0	.	173	Q13326	SGCG_HUMAN	T	173	ENSP00000218867:A173T;ENSP00000444100:A173T;ENSP00000442232:A173T	ENSP00000218867:A173T	A	+	1	0	SGCG	22767565	1.000000	0.71417	0.998000	0.56505	0.580000	0.36256	4.816000	0.62642	2.264000	0.75181	0.563000	0.77884	GCT		0.373	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231		172	805	0	0	0	2.47226e-05	0	172	805					A	23869565	G	A	23869565	3	1	121	1	0	0	0	0	1	0	0	0	14253	1203	42	2	535	2	SGCG	13	23869565	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		23869565	91300313	144	38002											
HTR2A	3356	broad.mit.edu	37	chr13	47409499	47409499	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tggctccctatggatcgaccGctggaagagcttttctgaag	12	10	1	2	rs376305063		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:47409499G>A	ENST00000378688.4	-	3	1020	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W|HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	297					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGATCGACCGCTGGAAGAGC	0.502																																						ENST00000378688.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(889-891)Cgg>Tgg		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	85	76	79		889,637	0.5	1	13		79	0,8600	1.2+/-3.3	0,0,4300	no	missense,missense	HTR2A	NM_000621.3,NM_001165947.1	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	297/472,213/388	47409499	1,13005	2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409499G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.889C>T	13.37:g.47409499G>A	ENSP00000367959:p.Arg297Trp					HTR2A_ENST00000543956.1_Missense_Mutation_p.R213W|HTR2A_ENST00000542664.1_Missense_Mutation_p.R297W	p.R297W			P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1020	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	297					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.889C>T	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180129	0.57800	2.27E-4	0.0	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.63417	0.27;-0.04;0.27	5.78	0.475	0.16774	GPCR, rhodopsin-like superfamily (1);	0.124540	0.53938	D	0.000048	T	0.81536	0.4843	M	0.91872	3.25	0.45477	D	0.998448	D;D	0.89917	0.999;1.0	D;D	0.74348	0.94;0.983	D	0.84763	0.0763	10	0.62326	D	0.03	.	15.9291	0.79646	0.0:0.0:0.4023:0.5977	.	213;297	F5GWE8;P28223	.;5HT2A_HUMAN	W	297;213;297	ENSP00000367959:R297W;ENSP00000441861:R213W;ENSP00000437737:R297W	ENSP00000367959:R297W	R	-	1	2	HTR2A	46307500	1.000000	0.71417	0.984000	0.44739	0.974000	0.67602	3.113000	0.50376	-0.155000	0.11098	-0.293000	0.09583	CGG		0.502	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		35	179	0	0	0	1.48458e-05	0	35	179					A	47409499	G	A	47409499	3	1	121	1	0	0	0	0	1	0	0	0	7471	1086	38	1	530	1	HTR2A	13	47409499	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	23539934	47409499	67760379	145	38003											
ATP7B	540	broad.mit.edu	37	chr13	52548807	52548807	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaggctgataagtgatgacGgcctcttggttgctgagtga	14	6	1	5			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:52548807G>A	ENST00000242839.4	-	2	705	c.549C>T	c.(547-549)gcC>gcT	p.A183A	ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000542656.1_Silent_p.A151A|ATP7B_ENST00000400366.3_Silent_p.A183A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	183	HMA 2. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAGTGATGACGGCCTCTTGGT	0.512									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(547-549)gcC>gcT		ATPase, Cu++ transporting, beta polypeptide							59	62	61					13																	52548807		2083	4211	6294	SO:0001819	synonymous_variant	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548807G>A	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.549C>T	13.37:g.52548807G>A						ATP7B_ENST00000400370.3_Silent_p.A183A|ATP7B_ENST00000448424.2_Silent_p.A183A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.A183A|ATP7B_ENST00000418097.2_Silent_p.A183A|ATP7B_ENST00000344297.5_Silent_p.A183A|ATP7B_ENST00000542656.1_Silent_p.A151A	p.A183A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	705	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	183			HMA 2.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.549C>T	CCDS41892.1																																																																																				0.512	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		43	222	0	0	0	6.26518e-05	0	43	222					A	52548807	G	A	52548807	2	1	121	1	0	0	0	0	0	0	0	1	1192	1103	39	1		1	ATP7B	13	52548807	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	5139308	52548807	62621071	146	38004											
SLITRK5	26050	broad.mit.edu	37	chr13	88329794	88329796	+	In_Frame_Del	DEL	CGG	CGG	-													aacatgcagtacagcgtgtaCggcggcggcggcggcacggg							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:88329794_88329796delCGG	ENST00000325089.6	+	2	2370_2372	c.2151_2153delCGG	c.(2149-2154)tacggc>tac	p.G722del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.G481del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	722					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)					ACAGCGTGTACGGCGGCGGCGGC	0.645																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2149-2154)tac>ta		SLIT and NTRK-like family, member 5																																				SO:0001651	inframe_deletion	26050					integral to membrane		g.chr13:88329794_88329796delCGG	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.2151_2153delCGG	13.37:g.88329803_88329805delCGG	ENSP00000366283:p.Gly722del					SLITRK5_ENST00000400028.3_In_Frame_Del_p.YG476del	p.YG717del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2370_2372	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		717					B3KNB8|B4DSH5|Q5VT81	In_Frame_Del	DEL	ENST00000325089.6	37	c.2151_2153delCGG	CCDS9465.1																																																																																				0.645	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			8	351						8	351	---	---	---	---	-	88329796	CGG	-	88329794	7	5	121	1	0	1	0	1	0	0	0	0	14796	547	19	0	2153	0	SLITRK5	13	88329794	In_Frame_Del	DEL	CGG	TCGA-XN-A8T3-01A-11D-A36O-08	35780987	88329794	26840084	147	38005											
TGDS	23483	broad.mit.edu	37	chr13	95246123	95246123	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gatttatgatcatatagtttGgataatcttccactaaagag	7	5	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:95246123G>T	ENST00000261296.5	-	2	245	c.125C>A	c.(124-126)cCa>cAa	p.P42Q	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	42					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)					CATATAGTTTGGATAATCTTC	0.274																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(124-126)cCa>cAa		TDP-glucose 4,6-dehydratase							103	108	107					13																	95246123		2200	4281	6481	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95246123G>T	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.125C>A	13.37:g.95246123G>T	ENSP00000261296:p.Pro42Gln					TGDS_ENST00000498294.1_5'UTR	p.P42Q	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			2	245	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		42					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.125C>A	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204314	0.79127	.	.	ENSG00000088451	ENST00000261296	D	0.93019	-3.15	5.67	5.67	0.87782	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.116101	0.64402	D	0.000014	D	0.96959	0.9007	M	0.88181	2.935	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.95736	0.8779	10	0.21014	T	0.42	.	17.5515	0.87878	0.0:0.0:1.0:0.0	.	42	O95455	TGDS_HUMAN	Q	42	ENSP00000261296:P42Q	ENSP00000261296:P42Q	P	-	2	0	TGDS	94044124	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.419000	0.59835	2.658000	0.90341	0.591000	0.81541	CCA		0.274	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		22	1087	1	0	3.45872e-05	3.45872e-05	0.00669873	22	1087					T	95246123	G	T	95246123	3	4	121	1	0	0	0	0	1	0	0	0	15866	1348	47	3	971	3	TGDS	13	95246123	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	6916329	95246123	19923755	148	38006											
PROZ	8858	broad.mit.edu	37	chr13	113826319	113826319	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagaggctcctggtttctcaCgggggtcctgggctcgcagc	15	13	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr13:113826319C>T	ENST00000375547.2	+	8	1110	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	PROZ_ENST00000342783.4_Missense_Mutation_p.T390M	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	368	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TGGTTTCTCACGGGGGTCCTG	0.562																																						ENST00000342783.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16						c.(1168-1170)aCg>aTg		protein Z, vitamin K-dependent plasma glycoprotein	Menadione(DB00170)						36	34	35					13																	113826319		2203	4298	6501	SO:0001583	missense	8858				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	g.chr13:113826319C>T	M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1103C>T	13.37:g.113826319C>T	ENSP00000364697:p.Thr368Met					PROZ_ENST00000375547.2_Missense_Mutation_p.T368M	p.T390M	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	all cancers(43;0.104)		9	1176	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	368			Peptidase S1.		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	ENST00000375547.2	37	c.1169C>T	CCDS9531.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282979	0.23392	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.89050	-2.46;-2.46	3.96	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.303944	0.34986	N	0.003522	D	0.91720	0.7382	M	0.68593	2.085	0.39311	D	0.965077	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91267	0.5041	10	0.87932	D	0	.	6.4669	0.21987	0.0:0.6801:0.1745:0.1454	.	390;368	P22891-2;P22891	.;PROZ_HUMAN	M	368;390	ENSP00000364697:T368M;ENSP00000344458:T390M	ENSP00000344458:T390M	T	+	2	0	PROZ	112874320	0.916000	0.31088	0.503000	0.27626	0.030000	0.12068	1.723000	0.38053	1.891000	0.54761	0.313000	0.20887	ACG		0.562	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045845.1	NM_003891		54	220	0	0	0	2.47226e-05	0	54	220					T	113826319	C	T	113826319	3	4	121	1	0	0	0	0	1	0	0	0	12609	536	19	1	1133	1	PROZ	13	113826319	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	18580196	113826319	1343559	149	38007											
SALL2	6297	broad.mit.edu	37	chr14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-													gaggctgatccaggctgtcaGgtggtggtggtggtggcaaa					rs113881459|rs569568436		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				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)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				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						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	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.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		8	574						8	574	---	---	---	---	-	21991336	GGT	-	21991334	7	5	121	1	0	1	0	1	0	0	0	0	13861	1000	35	0	499	0	SALL2	14	21991334	In_Frame_Del	DEL	GGT	TCGA-XN-A8T3-01A-11D-A36O-08		21991334	85358206	150	38008											
MYH7	4625	broad.mit.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	5	16	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	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																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144	127	133					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	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		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		6	414	0	0	0	1.12685e-05	0	6	414					T	23898270	C	T	23898270	3	4	121	1	0	0	0	0	1	0	0	0	10080	681	24	2	4614	2	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1906936	23898270	83451270	151	38009											
RABGGTA	5875	broad.mit.edu	37	chr14	24737795	24737795	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtatgttggggcaactggtCgttgagggaggcagcaggca	18	6	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:24737795C>A	ENST00000399409.3	-	9	1414	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	311					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGCAACTGGTCGTTGAGGGAG	0.557																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(931-933)Gac>Tac		Rab geranylgeranyltransferase, alpha subunit							91	96	94					14																	24737795		2073	4208	6281	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24737795C>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"Prenyltransferase alpha subunit repeat containing"	9795	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 3"	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.931G>T	14.37:g.24737795C>A	ENSP00000382341:p.Asp311Tyr					RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.D311Y	p.D311Y	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	9	1414	-			311					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.931G>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269476	0.40095	.	.	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.52057	0.68;0.68	5.11	4.22	0.49857	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.000000	0.85682	D	0.000000	T	0.61489	0.2351	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.63804	-0.6554	10	0.59425	D	0.04	-24.6605	13.0558	0.58980	0.0:0.9196:0.0:0.0804	.	311	Q92696	PGTA_HUMAN	Y	311;311;274	ENSP00000216840:D311Y;ENSP00000382341:D311Y	ENSP00000216840:D311Y	D	-	1	0	RABGGTA	23807635	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	4.232000	0.58645	1.292000	0.44672	-0.448000	0.05591	GAC		0.557	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		12	478	1	0	3.45872e-05	3.45872e-05	0.00669873	12	478					A	24737795	C	A	24737795	3	1	121	1	0	0	0	0	1	0	0	0	13017	884	31	3	804	3	RABGGTA	14	24737795	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	839525	24737795	82611745	152	38010											
MLH3	27030	broad.mit.edu	37	chr14	75515338	75515338	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaacattttcactccttcctGaatgcaaaacaagagagtgt	6	9	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:75515338G>T	ENST00000556740.1	-	1	1056	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K|MLH3_ENST00000355774.2_Missense_Mutation_p.Q341K|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	341					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTCCTTCCTGAATGCAAAAC	0.343								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1021-1023)Cag>Aag	Mismatch excision repair (MMR)	mutL homolog 3							66	67	67					14																	75515338		2203	4299	6502	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75515338G>T	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1021C>A	14.37:g.75515338G>T	ENSP00000452316:p.Gln341Lys					MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q341K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q341K|MLH3_ENST00000238662.7_Missense_Mutation_p.Q341K	p.Q341K	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1236	-			341					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.1021C>A	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552631	0.45487	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.75	4.81	0.61882	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, C-terminal (1);	0.054424	0.64402	D	0.000001	D	0.85173	0.5636	L	0.52126	1.63	0.80722	D	1	D;D	0.56287	0.975;0.973	P;P	0.55749	0.573;0.783	D	0.85052	0.0929	10	0.49607	T	0.09	-8.2283	13.6674	0.62405	0.0:0.3268:0.6732:0.0	.	341;341	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	K	341	ENSP00000348020:Q341K;ENSP00000238662:Q341K;ENSP00000451540:Q341K;ENSP00000452316:Q341K	ENSP00000238662:Q341K	Q	-	1	0	MLH3	74585091	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.724000	0.74747	2.716000	0.92895	0.655000	0.94253	CAG		0.343	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		12	632	1	0	9.31168e-06	9.31168e-06	0.00207751	12	632					T	75515338	G	T	75515338	3	4	121	1	0	0	0	0	1	0	0	0	9659	1299	45	3	3388	3	MLH3	14	75515338	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	50777543	75515338	31834202	153	38011											
TTC8	123016	broad.mit.edu	37	chr14	89338724	89338726	+	In_Frame_Del	DEL	CAA	CAA	-													tgcttcaggctggctctggtCaacaacaacaaccacgccga					rs575952395		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:89338724_89338726delCAA	ENST00000345383.5	+	12	1329_1331	c.1245_1247delCAA	c.(1243-1248)gtcaac>gtc	p.N419del	TTC8_ENST00000536576.1_In_Frame_Del_p.N190del|TTC8_ENST00000354441.6_In_Frame_Del_p.N164del|TTC8_ENST00000380656.2_In_Frame_Del_p.N429del|TTC8_ENST00000338104.6_In_Frame_Del_p.N445del|TTC8_ENST00000358622.5_In_Frame_Del_p.N231del|TTC8_ENST00000346301.4_In_Frame_Del_p.N389del	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	455					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGCTCTGGTCAACAACAACAAC	0.537																																						ENST00000338104.6																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						c.(1321-1326)gtc>gt		tetratricopeptide repeat domain 8			,,	184,4080		91,2,2039					,,	3.2	1			114	384,7870		189,6,3932	no	coding,coding,coding	TTC8	NM_198310.2,NM_198309.2,NM_144596.2	,,	280,8,5971	A1A1,A1R,RR		4.6523,4.3152,4.5375	,,	,,		568,11950				SO:0001651	inframe_deletion	123016				cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	g.chr14:89338724_89338726delCAA	AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.1245_1247delCAA	14.37:g.89338733_89338735delCAA	ENSP00000339486:p.Asn419del					TTC8_ENST00000345383.5_In_Frame_Del_p.VN415del|TTC8_ENST00000354441.6_In_Frame_Del_p.VN160del|TTC8_ENST00000380656.2_In_Frame_Del_p.VN425del|TTC8_ENST00000358622.5_In_Frame_Del_p.VN227del|TTC8_ENST00000536576.1_In_Frame_Del_p.VN186del|TTC8_ENST00000346301.4_In_Frame_Del_p.VN385del	p.VN441del			Q8TAM2	TTC8_HUMAN			13	1375_1377	+			451					A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	In_Frame_Del	DEL	ENST00000345383.5	37	c.1323_1325delCAA	CCDS9885.1																																																																																				0.537	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410861.1	NM_144596		7	587						7	587	---	---	---	---	-	89338726	CAA	-	89338724	7	5	121	1	0	1	0	1	0	0	0	0	16768	813	29	0	1325	0	TTC8	14	89338724	In_Frame_Del	DEL	CAA	TCGA-XN-A8T3-01A-11D-A36O-08	13823386	89338724	18010816	154	38012											
ATG2B	55102	broad.mit.edu	37	chr14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T													ttcttgttctgagagtctaaINStttttttttcctgcgagaac							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					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)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	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.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		15	408						15	408	---	---	---	---	T	96783572	-	T	96783571	7	5	121	1	0	1	1	0	0	0	0	0	1095	98	4	0	3207	0	ATG2B	14	96783571	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	7444847	96783571	10565969	155	38013											
KIAA1370	56204	broad.mit.edu	37	chr15	52879377	52879377	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tgttcctgaaggaggtactcGataaccccttttaccaaggg	10	10	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:52879377G>T	ENST00000261844.7	-	11	3000	c.2848C>A	c.(2848-2850)Cga>Aga	p.R950R	RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Silent_p.R957R	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	950																	GGAGGTACTCGATAACCCCTT	0.348																																						ENST00000261844.7																			0											c.(2848-2850)Cga>Aga		family with sequence similarity 214, member A							142	131	134					15																	52879377		1841	4084	5925	SO:0001819	synonymous_variant	56204							g.chr15:52879377G>T	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.2848C>A	15.37:g.52879377G>T						FAM214A_ENST00000546305.2_Silent_p.R957R|RP11-23N2.4_ENST00000562062.1_RNA|RP11-23N2.4_ENST00000566344.1_RNA	p.R950R	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN			11	3000	-			950					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	ENST00000261844.7	37	c.2848C>A	CCDS45263.1																																																																																				0.348	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		8	458	1	0	5.50884e-06	5.50884e-06	0.00130912	8	458					T	52879377	G	T	52879377	2	4	121	1	0	0	0	0	0	0	0	1	8256	1066	37	3		3	KIAA1370	15	52879377	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		52879377	49652015	156	38014											
CCPG1	9236	broad.mit.edu	37	chr15	55657508	55657508	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaatctgaattgtgcCtaaaataaatatttttatta	4	5	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:55657508C>A	ENST00000310958.6	-	7	1005		c.e7-1		CCPG1_ENST00000425574.3_Splice_Site|CCPG1_ENST00000442196.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Splice_Site	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						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)		TGAATTGTGCCtaaaataaat	0.274																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.e7-1		cell cycle progression 1							58	56	57					15																	55657508		1775	4033	5808	SO:0001630	splice_region_variant	9236				cell cycle	integral to membrane		g.chr15:55657508C>A	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.707-1G>T	15.37:g.55657508C>A						CCPG1_ENST00000425574.3_Splice_Site|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Splice_Site|CCPG1_ENST00000569205.1_Splice_Site		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		all cancers(107;0.0354)	7	1005	-								A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Splice_Site	SNP	ENST00000310958.6	37		CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694925	0.30052	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	.	.	.	4.41	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8455	0.08933	0.0:0.7328:0.0:0.2672	.	.	.	.	.	-1	.	.	.	-	.	.	DYX1C1	53444800	1.000000	0.71417	0.838000	0.33150	0.705000	0.40729	5.724000	0.68500	0.917000	0.36895	0.460000	0.39030	.		0.274	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	Intron	10	647	1	0	3.86212e-05	3.86212e-05	0.00711662	10	647					A	55657508	C	A	55657508	5	1	121	1	0	0	0	0	0	0	1	0	2947	695	24	3	1575	3	CCPG1	15	55657508	Splice_Site	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	2778131	55657508	46873884	157	38015											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									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						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				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						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	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.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		9	474						9	474	---	---	---	---	-	59144134	GCT	-	59144132	7	5	121	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-XN-A8T3-01A-11D-A36O-08	3486624	59144132	43387260	158	38016											
NPIP	9284	broad.mit.edu	37	chr16	15045828	15045829	+	Frame_Shift_Del	DEL	GT	GT	-													aatctcaagacacctcccgaGtgtgtctgctcactcccctt							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:15045828_15045829delGT	ENST00000328085.6	+	8	999_1000	c.999_1000delGT	c.(997-1002)gagtgtfs	p.C334fs	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	334	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CACCTCCCGAGTGTGTCTGCTC	0.455																																						ENST00000328085.6																			0											c.(997-1002)gagtfs		nuclear pore complex interacting protein family, member A1																																				SO:0001589	frameshift_variant	9284							g.chr16:15045828_15045829delGT	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.999_1000delGT	16.37:g.15045832_15045833delGT	ENSP00000331843:p.Cys334fs					NPIPA1_ENST00000472413.1_3'UTR	p.EC333fs	NM_006985.2	NP_008916.2					8	999_1000	+								O15102	Frame_Shift_Del	DEL	ENST00000328085.6	37	c.999_1000delGT	CCDS10557.1																																																																																				0.455	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2	NM_006985		10	1335						10	1335	---	---	---	---	-	15045829	GT	-	15045828	7	5	121	1	0	1	0	1	0	0	0	0	10626	1020	36	0	1029	0	NPIP	16	15045828	Frame_Shift_Del	DEL	GT	TCGA-XN-A8T3-01A-11D-A36O-08		15045828	75308925	159	38017											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		7	1309						7	1309	---	---	---	---	-	20370702	CCA	-	20370700	7	5	121	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-XN-A8T3-01A-11D-A36O-08	5324872	20370700	69984053	160	38018											
SETD1A	9739	broad.mit.edu	37	chr16	30977316	30977317	+	Frame_Shift_Ins	INS	-	-	C													ttgattgccgcctcagctggINScccccccggtggggcctttg							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:30977316_30977317insC	ENST00000262519.8	+	8	2800_2801	c.2114_2115insC	c.(2113-2118)ggccccfs	p.GP705fs		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	705					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						GCCTCAGCTGGCCCCCCCGGTG	0.644																																						ENST00000262519.8																			0				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						c.(2113-2115)gccfs		SET domain containing 1A				8,4238		0,8,2115						2.5	0.6			50	23,8211		0,23,4094	no	frameshift	SETD1A	NM_014712.1		0,31,6209	A1A1,A1R,RR		0.2793,0.1884,0.2484				31,12449				SO:0001589	frameshift_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977316_30977317insC	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.2121dupC	16.37:g.30977323_30977323dupC	ENSP00000262519:p.Gly705fs						p.A705fs	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			8	2800_2801	+			705					A6NP62|Q6PIF3|Q8TAJ6	Frame_Shift_Ins	INS	ENST00000262519.8	37	c.2114_2115insC	CCDS32435.1																																																																																				0.644	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	609						7	609	---	---	---	---	C	30977317	-	C	30977316	7	5	121	1	0	1	1	0	0	0	0	0	14180	1203	42	0	2140	0	SETD1A	16	30977316	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	10606616	30977316	59377437	161	38019											
HYDIN	54768	broad.mit.edu	37	chr16	70843895	70843895	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctttcaggggctgaaattCaaatgagaacgtgccctgga	12	8	2	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:70843895C>A	ENST00000393567.2	-	85	14824	c.14674G>T	c.(14674-14676)Gaa>Taa	p.E4892*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4892					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)				GGCTGAAATTCAAATGAGAAC	0.483																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(14674-14676)Gaa>Taa		HYDIN, axonemal central pair apparatus protein							188	194	192					16																	70843895		1938	4135	6073	SO:0001587	stop_gained	54768							g.chr16:70843895C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14674G>T	16.37:g.70843895C>A	ENSP00000377197:p.Glu4892*						p.E4892*	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			85	14824	-		Ovarian(137;0.0654)	4892					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.14674G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	56	26.157347	0.99968	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	6.08	6.08	0.98989	.	0.000000	0.31797	U	0.007056	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	X	4892;4891	.	ENSP00000313052:E4891X	E	-	1	0	HYDIN	69401396	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.302000	0.78861	2.894000	0.99253	0.655000	0.94253	GAA		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			29	814	1	0	5.52252e-06	4.66903e-05	0.00130912	29	814					A	70843895	C	A	70843895	4	1	121	1	0	0	0	0	0	1	0	0	7497	835	29	3	699	3	HYDIN	16	70843895	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	39866579	70843895	19510858	162	38020											
ZCCHC14	23174	broad.mit.edu	37	chr16	87525409	87525409	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcttctggtggaagcTgaaggccgggtggttggagg	18	8	1	1	rs146149024		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr16:87525409T>A	ENST00000268616.4	-	1	242	c.25A>T	c.(25-27)Agc>Tgc	p.S9C	RP11-482M8.1_ENST00000565824.1_lincRNA	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	9							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)		TGGTGGAAGCTGAAGGCCGGG	0.682																																						ENST00000268616.4																			0				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						c.(25-27)Agc>Tgc		zinc finger, CCHC domain containing 14							26	28	27					16																	87525409		2195	4295	6490	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87525409T>A	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.25A>T	16.37:g.87525409T>A	ENSP00000268616:p.Ser9Cys						p.S9C	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	1	242	-			9					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.25A>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	t	13.51	2.259844	0.39995	.	.	ENSG00000140948	ENST00000268616	T	0.24350	1.86	3.44	2.29	0.28610	.	0.198971	0.39687	U	0.001289	T	0.28433	0.0703	M	0.68593	2.085	0.34508	D	0.706838	D	0.55172	0.97	B	0.44044	0.439	T	0.47674	-0.9099	10	0.87932	D	0	-10.1948	9.746	0.40446	0.0:0.0:0.1749:0.8251	.	9	Q8WYQ9	ZCH14_HUMAN	C	9	ENSP00000268616:S9C	ENSP00000268616:S9C	S	-	1	0	ZCCHC14	86082910	1.000000	0.71417	0.986000	0.45419	0.002000	0.02628	4.552000	0.60747	0.316000	0.23135	-0.646000	0.03943	AGC		0.682	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	112	0	0	0	3.59834e-05	0	4	112					A	87525409	T	A	87525409	3	1	121	1	0	0	0	0	1	0	0	0	17636	1580	55	5	2876	5	ZCCHC14	16	87525409	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	16681514	87525409	2829344	163	38021											
NLRP1	22861	broad.mit.edu	37	chr17	5463340	5463341	+	Frame_Shift_Del	DEL	TC	TC	-													gggcctgcctttctctgattTctctctctctctttctctga							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:5463340_5463341delTC	ENST00000572272.1	-	4	674_675	c.675_676delGA	c.(673-678)gagaaafs	p.K226fs	NLRP1_ENST00000345221.3_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.K226fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.K226fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	226					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)				TTCTCTGATTTCTCTCTCTCTC	0.48																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(673-678)gaaafs		NLR family, pyrin domain containing 1																																				SO:0001589	frameshift_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5463340_5463341delTC	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.675_676delGA	17.37:g.5463350_5463351delTC	ENSP00000460475:p.Lys226fs					NLRP1_ENST00000572272.1_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.EK225fs|NLRP1_ENST00000571307.1_5'UTR	p.EK225fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	1229_1230	-		Colorectal(1115;3.48e-05)	225					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Del	DEL	ENST00000572272.1	37	c.675_676delGA	CCDS42246.1																																																																																				0.48	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		7	153						7	153	---	---	---	---	-	5463341	TC	-	5463340	7	5	121	1	0	1	0	1	0	0	0	0	10513	1792	62	0	3876	0	NLRP1	17	5463340	Frame_Shift_Del	DEL	TC	TCGA-XN-A8T3-01A-11D-A36O-08		5463340	75731870	164	38022											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	8	16	1	0	rs121913343		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	92	0	0	0	5.01169e-05	0	17	92					A	7577121	G	A	7577121	3	1	121	1	0	0	0	0	1	0	0	0	16434	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	2113781	7577121	73618089	165	38023											
NCOR1	9611	broad.mit.edu	37	chr17	15978856	15978856	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacaatacttactatcatatGacaagatatgtccacttttg	4	8	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:15978856G>T	ENST00000268712.3	-	27	3919	c.3662C>A	c.(3661-3663)tCa>tAa	p.S1221*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1221	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACTATCATATGACAAGATATG	0.423																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3661-3663)tCa>tAa		nuclear receptor corepressor 1							236	214	221					17																	15978856		2203	4300	6503	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15978856G>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3662C>A	17.37:g.15978856G>T	ENSP00000268712:p.Ser1221*					NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S1237*|NCOR1_ENST00000395857.3_Intron	p.S1221*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	27	3919	-			1221			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.3662C>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	39	7.794547	0.98492	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0796	19.3193	0.94231	0.0:0.0:1.0:0.0	.	.	.	.	X	1221;1237;1128	.	ENSP00000268712:S1221X	S	-	2	0	NCOR1	15919581	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	9.238000	0.95380	2.797000	0.96272	0.655000	0.94253	TCA		0.423	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		12	623	1	0	5.50884e-06	5.50884e-06	0.00130912	12	623					T	15978856	G	T	15978856	4	4	121	1	0	0	0	0	0	1	0	0	10277	1294	45	3	3740	3	NCOR1	17	15978856	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	8401735	15978856	65216354	166	38024											
SMCR7	125170	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-													gacgctgggactcgccggcgGctgctgctgctgctgtgtgc							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					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)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	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.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		8	322						8	322	---	---	---	---	-	18167780	GCT	-	18167778	7	5	121	1	0	1	0	1	0	0	0	0	14840	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-XN-A8T3-01A-11D-A36O-08	2188922	18167778	63027432	167	38025											
C17orf66	256957	broad.mit.edu	37	chr17	34182158	34182158	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcctatgttttcgtggtttcGagcagcacggtgggaaagca	14	8	0	0	rs114102494	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:34182158G>T	ENST00000311880.2	-	15	1770	c.1622C>A	c.(1621-1623)tCg>tAg	p.S541*	C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501*	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		541					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)		TCGTGGTTTCGAGCAGCACGG	0.478																																						ENST00000311880.2																			0				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						c.(1621-1623)tCg>tAg		chromosome 17 open reading frame 66							179	159	166					17																	34182158		2203	4300	6503	SO:0001587	stop_gained	256957						binding	g.chr17:34182158G>T																												ENST00000311880.2:c.1622C>A	17.37:g.34182158G>T	ENSP00000309560:p.Ser541*					C17orf66_ENST00000592980.1_Nonsense_Mutation_p.S501*	p.S541*	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	15	1770	-		Ovarian(249;0.17)	541					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Nonsense_Mutation	SNP	ENST00000311880.2	37	c.1622C>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285540	0.59867	.	.	ENSG00000172653	ENST00000311880	.	.	.	3.32	1.31	0.21738	.	0.687649	0.12769	N	0.440695	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3942	0.16261	0.2631:0.0:0.7369:0.0	.	.	.	.	X	541	.	ENSP00000309560:S541X	S	-	2	0	C17orf66	31206271	0.005000	0.15991	0.001000	0.08648	0.016000	0.09150	0.204000	0.17335	0.419000	0.25927	0.591000	0.81541	TCG		0.478	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			14	690	1	0	5.01169e-05	5.01169e-05	0.00884117	14	690					T	34182158	G	T	34182158	4	4	121	1	0	0	0	0	0	1	0	0	1880	1059	37	3	94	3	C17orf66	17	34182158	Nonsense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	16014380	34182158	47013052	168	38026											
KRT20	54474	broad.mit.edu	37	chr17	39034482	39034482	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtcaagaaggatatggtattCgttgttctggcgttccatgt	12	6	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39034482C>A	ENST00000167588.3	-	6	1095	c.1054G>T	c.(1054-1056)Gaa>Taa	p.E352*		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	352	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)				ATATGGTATTCGTTGTTCTGG	0.493																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1054-1056)Gaa>Taa		keratin 20							275	229	245					17																	39034482		2203	4300	6503	SO:0001587	stop_gained	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39034482C>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.1054G>T	17.37:g.39034482C>A	ENSP00000167588:p.Glu352*						p.E352*	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			6	1095	-		Breast(137;0.000301)|Ovarian(249;0.15)	352			Coil 2.|Rod.		B2R6W7	Nonsense_Mutation	SNP	ENST00000167588.3	37	c.1054G>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280293	0.80692	.	.	ENSG00000171431	ENST00000167588	.	.	.	5.0	3.96	0.45880	.	0.095097	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7896	0.69830	0.0:0.8551:0.1449:0.0	.	.	.	.	X	352	.	ENSP00000167588:E352X	E	-	1	0	KRT20	36288008	1.000000	0.71417	0.042000	0.18584	0.018000	0.09664	4.686000	0.61700	2.310000	0.77875	0.591000	0.81541	GAA		0.493	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			9	814	1	0	2.17888e-05	2.17888e-05	0.00444706	9	814					A	39034482	C	A	39034482	4	1	121	1	0	0	0	0	0	1	0	0	8488	893	31	3	232	3	KRT20	17	39034482	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4852324	39034482	42160728	169	38027											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagccctgctgccgccccGcctgctgtgagaccacctgc	11	20	0	1	rs374673591	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	128	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)			CTGCCGCCCCGCCTGCTGTGA	0.612													.|||	2	0.000399361	0.0008	0.0	5008	,	,		19347	0.0		0.001	False		,,,				2504	0.0					ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(427-429)Gcc>Acc		keratin associated protein 9-9		G	THR/ALA	0,4406		0,0,2203	153	161	158		427	-2.5	0	17		158	1,8599		0,1,4299	no	missense	KRTAP9-9	NM_030975.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	143/170	39412064	1,13005	2203	4300	6503	SO:0001583	missense	81870					keratin filament		g.chr17:39412064G>A	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.427G>A	17.37:g.39412064G>A	ENSP00000377576:p.Ala143Thr						p.A143T	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	429	+		Breast(137;0.000496)	143					B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	c.427G>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.507999	0.44558	0.0	1.16E-4	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.01295	5.04	2.85	-2.54	0.06307	.	.	.	.	.	T	0.00524	0.0017	N	0.00879	-1.12	0.09310	N	1	B	0.17268	0.021	B	0.08055	0.003	T	0.44982	-0.9292	9	0.37606	T	0.19	.	3.7095	0.08414	0.5122:0.0:0.3091:0.1786	.	128	Q9BYP9	KRA99_HUMAN	T	149;143	ENSP00000377576:A143T	ENSP00000377576:A143T	A	+	1	0	KRTAP9-9	36665590	0.000000	0.05858	0.000000	0.03702	0.448000	0.32197	-1.026000	0.03596	-0.748000	0.04753	0.205000	0.17691	GCC		0.612	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		62	670	0	0	0	2.47226e-05	0	62	670					A	39412064	G	A	39412064	3	1	121	1	0	0	0	0	1	0	0	0	8608	1087	38	1	429	1	KRTAP9-9	17	39412064	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	377582	39412064	41783146	170	38028											
MPP3	4356	broad.mit.edu	37	chr17	41886383	41886383	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tggcgtttttcttttttcctGaattgcaggctttacaaata	7	7	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:41886383G>T	ENST00000398389.4	-	19	1687	c.1522C>A	c.(1522-1524)Cag>Aag	p.Q508K	MPP3_ENST00000398393.1_Missense_Mutation_p.Q533K	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	508	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)		CTTTTTTCCTGAATTGCAGGC	0.378																																						ENST00000398393.1																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1597-1599)Cag>Aag		membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)							131	129	130					17																	41886383		1813	4072	5885	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41886383G>T		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.1522C>A	17.37:g.41886383G>T	ENSP00000381425:p.Gln508Lys					MPP3_ENST00000398389.4_Missense_Mutation_p.Q508K	p.Q533K			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	17	1857	-		Breast(137;0.00394)	508			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1597C>A	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	G	8.912	0.959001	0.18507	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.15603	2.41;2.41	5.36	5.36	0.76844	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.278923	0.35291	N	0.003309	T	0.10937	0.0267	N	0.12471	0.22	0.29701	N	0.840156	B;B	0.18741	0.03;0.03	B;B	0.29440	0.071;0.102	T	0.13737	-1.0498	10	0.25751	T	0.34	.	11.4234	0.49996	0.0828:0.0:0.9172:0.0	.	508;533	Q13368;D3DX46	MPP3_HUMAN;.	K	533;508	ENSP00000381430:Q533K;ENSP00000381425:Q508K	ENSP00000381425:Q508K	Q	-	1	0	MPP3	39241909	0.999000	0.42202	0.988000	0.46212	0.988000	0.76386	3.512000	0.53407	2.782000	0.95742	0.655000	0.94253	CAG		0.378	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		15	623	1	0	1.15919e-05	1.15919e-05	0.00251234	15	623					T	41886383	G	T	41886383	3	4	121	1	0	0	0	0	1	0	0	0	9776	1299	45	3	243	3	MPP3	17	41886383	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	2474319	41886383	39308827	171	38029											
MAP2K6	5608	broad.mit.edu	37	chr17	67519707	67519707	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcggtcaagtgaagatgtgCgattttggaatcagtggcta	13	6	2	2	rs143627401		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:67519707C>A	ENST00000590474.1	+	8	875	c.588C>A	c.(586-588)tgC>tgA	p.C196*	MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TGAAGATGTGCGATTTTGGAA	0.448																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(586-588)tgC>tgA		mitogen-activated protein kinase kinase 6							332	294	307					17																	67519707		2203	4300	6503	SO:0001587	stop_gained	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67519707C>A	U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.588C>A	17.37:g.67519707C>A	ENSP00000468348:p.Cys196*					MAP2K6_ENST00000589647.1_Nonsense_Mutation_p.C140*	p.C196*	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			8	875	+	Breast(10;6.05e-10)		196			Protein kinase.			Nonsense_Mutation	SNP	ENST00000590474.1	37	c.588C>A	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	C	37	6.576599	0.97676	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.73	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.3369	12.9116	0.58182	0.0:0.2066:0.0:0.7934	.	.	.	.	X	196	.	.	C	+	3	2	MAP2K6	65031302	0.881000	0.30235	0.989000	0.46669	0.998000	0.95712	-0.053000	0.11846	-0.502000	0.06596	0.655000	0.94253	TGC		0.448	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		9	866	1	0	3.86212e-05	3.86212e-05	0.00711662	9	866					A	67519707	C	A	67519707	4	1	121	1	0	0	0	0	0	1	0	0	9282	776	27	3	618	3	MAP2K6	17	67519707	Nonsense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	25633324	67519707	13675503	172	38030											
TBCD	6904	broad.mit.edu	37	chr17	80726352	80726352	+	Frame_Shift_Del	DEL	T	T	-													tccgtgacctgcctgatcccTtttgatttttctcgccttga							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr17:80726352delT	ENST00000355528.4	+	5	622	c.492delT	c.(490-492)cctfs	p.P164fs	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Frame_Shift_Del_p.P164fs	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473																																						ENST00000355528.4																			0											c.(490-492)ccfs		tubulin folding cofactor D							217	222	220					17																	80726352		1965	4153	6118	SO:0001589	frameshift_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80726352delT	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.492delT	17.37:g.80726352delT	ENSP00000347719:p.Pro164fs					TBCD_ENST00000539345.2_Frame_Shift_Del_p.P164fs|TBCD_ENST00000397466.2_5'UTR	p.P164fs	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		5	622	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	164					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Frame_Shift_Del	DEL	ENST00000355528.4	37	c.492delT	CCDS45818.1																																																																																				0.473	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		8	1069						8	1069	---	---	---	---	-	80726352	T	-	80726352	7	5	121	1	0	1	0	1	0	0	0	0	15685	1596	56	0	510	0	TBCD	17	80726352	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	13206645	80726352	468858	173	38031											
AFG3L2	10939	broad.mit.edu	37	chr18	12363818	12363818	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttcctggtgtaaaggtcactCgaacaaaacgcttgttgacg	10	9	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12363818C>A	ENST00000269143.3	-	6	821	c.590G>T	c.(589-591)cGa>cTa	p.R197L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	197					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)	p.R197L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AAAGGTCACTCGAACAAAACG	0.303																																						ENST00000269143.3																			1	Substitution - Missense(1)	p.R197L(1)	lung(1)	NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(589-591)cGa>cTa		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)						83	91	89					18																	12363818		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12363818C>A	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.590G>T	18.37:g.12363818C>A	ENSP00000269143:p.Arg197Leu						p.R197L	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			6	821	-			197					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.590G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327340	0.81690	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.74842	-0.88	5.49	5.49	0.81192	Peptidase M41, FtsH extracellular (1);Peptidase M41, FtsH (1);	0.049635	0.85682	D	0.000000	D	0.87063	0.6084	M	0.83953	2.67	0.58432	D	0.999999	D	0.63046	0.992	D	0.63793	0.918	D	0.88175	0.2867	10	0.72032	D	0.01	.	19.7238	0.96153	0.0:1.0:0.0:0.0	.	197	Q9Y4W6	AFG32_HUMAN	L	197;212	ENSP00000269143:R197L	ENSP00000269143:R197L	R	-	2	0	AFG3L2	12353818	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.614000	0.46359	2.740000	0.93945	0.561000	0.74099	CGA		0.303	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		12	755	1	0	5.3912e-06	5.3912e-06	0.00130912	12	755					A	12363818	C	A	12363818	3	1	121	1	0	0	0	0	1	0	0	0	360	884	31	3	1851	3	AFG3L2	18	12363818	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		12363818	65713430	174	38032											
SPIRE1	56907	broad.mit.edu	37	chr18	12535496	12535496	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctttcgcactcttaattttGgtcagaaatgtatggagctc	8	8	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:12535496G>T	ENST00000409402.4	-	4	975	c.708C>A	c.(706-708)acC>acA	p.T236T	SPIRE1_ENST00000383356.2_Silent_p.T77T|snoU13_ENST00000459256.1_RNA|SPIRE1_ENST00000309836.5_Silent_p.T39T|SPIRE1_ENST00000453447.2_Silent_p.T116T|SPIRE1_ENST00000410092.3_Silent_p.T236T	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						TCTTAATTTTGGTCAGAAATG	0.393																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(706-708)acC>acA		spire-type actin nucleation factor 1							157	140	146					18																	12535496		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12535496G>T	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.708C>A	18.37:g.12535496G>T						SPIRE1_ENST00000309836.5_Silent_p.T39T|SPIRE1_ENST00000410092.3_Silent_p.T236T|SPIRE1_ENST00000383356.2_Silent_p.T77T|SPIRE1_ENST00000453447.2_Silent_p.T116T	p.T236T	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			4	975	-			236						Silent	SNP	ENST00000409402.4	37	c.708C>A	CCDS45829.1																																																																																				0.393	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		13	679	1	0	9.31168e-06	9.31168e-06	0.00207751	13	679					T	12535496	G	T	12535496	2	4	121	1	0	0	0	0	0	0	0	1	15123	1335	47	3		3	SPIRE1	18	12535496	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	171678	12535496	65541752	175	38033											
SEH1L	81929	broad.mit.edu	37	chr18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-													tccagttatgcccagctcctTcctcctcctcctcctcctct							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	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																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	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						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		8	334						8	334	---	---	---	---	-	12986929	TCC	-	12986927	6	5	121	0	1	1	0	1	0	0	0	0	14059	1770	62	0		0	SEH1L	18	12986927	3'UTR	DEL	TCC	TCGA-XN-A8T3-01A-11D-A36O-08	451431	12986927	65090321	176	38034											
LAMA3	3909	broad.mit.edu	37	chr18	21426313	21426313	+	Frame_Shift_Del	DEL	T	T	-													ccgccaggtccctggtggccTtttaccacaagggcgccctg							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr18:21426313delT	ENST00000313654.9	+	31	4013	c.3772delT	c.(3772-3774)tttfs	p.F1258fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1258	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			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)					CCTGGTGGCCTTTTACCACAA	0.622																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3772-3774)ttfs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						89	92	91					18																	21426313		1930	4130	6060	SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426313delT	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.3772delT	18.37:g.21426313delT	ENSP00000324532:p.Phe1258fs					LAMA3_ENST00000399516.3_Frame_Shift_Del_p.F1258fs	p.F1258fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			31	4013	+	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)		1258			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	c.3772delT	CCDS42419.1																																																																																				0.622	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	681						7	681	---	---	---	---	-	21426313	T	-	21426313	7	5	121	1	0	1	0	1	0	0	0	0	8638	1609	56	0	3894	0	LAMA3	18	21426313	Frame_Shift_Del	DEL	T	TCGA-XN-A8T3-01A-11D-A36O-08	8439386	21426313	56650935	177	38035											
MOBKL2A	126308	broad.mit.edu	37	chr19	2076887	2076887	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgtagcaggtgttcaCgtgggcctcggagcccatct	14	11	2	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:2076887C>T	ENST00000357066.3	-	4	926	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	183						intracellular (GO:0005622)	metal ion binding (GO:0046872)										CAGGTGTTCACGTGGGCCTCG	0.612																																						ENST00000357066.3																			0											c.(547-549)Gtg>Atg		MOB kinase activator 3A							86	72	77					19																	2076887		2203	4300	6503	SO:0001583	missense	126308					intracellular	metal ion binding	g.chr19:2076887C>T	AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.547G>A	19.37:g.2076887C>T	ENSP00000349575:p.Val183Met					MOB3A_ENST00000592280.1_Missense_Mutation_p.V183M|MOB3A_ENST00000592143.1_Intron	p.V183M	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN			4	926	-			183					B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	ENST00000357066.3	37	c.547G>A	CCDS12081.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421174	0.83559	.	.	ENSG00000172081	ENST00000357066	.	.	.	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82125	-0.0612	9	0.62326	D	0.03	-49.6356	14.2648	0.66110	0.0:1.0:0.0:0.0	.	183	Q96BX8	MOB3A_HUMAN	M	183	.	ENSP00000349575:V183M	V	-	1	0	MOBKL2A	2027887	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.596000	0.67570	1.937000	0.56155	0.491000	0.48974	GTG		0.612	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450893.1	NM_130807		15	169	0	0	0	2.31682e-05	0	15	169					T	2076887	C	T	2076887	3	4	121	1	0	0	0	0	1	0	0	0	9725	536	19	1	114	1	MOBKL2A	19	2076887	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		2076887	57052096	178	38036											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		8	248						8	248	---	---	---	---	-	6531151	GCT	-	6531149	7	5	121	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-XN-A8T3-01A-11D-A36O-08	4454262	6531149	52597834	179	38037											
ZNF442	79973	broad.mit.edu	37	chr19	12461420	12461420	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagatgatgaaatgctttccCgcattgcttgcattcatagg	9	9	1	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:12461420C>A	ENST00000242804.4	-	6	1561	c.979G>T	c.(979-981)Ggg>Tgg	p.G327W	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AATGCTTTCCCGCATTGCTTG	0.418																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(979-981)Ggg>Tgg		zinc finger protein 442							211	204	206					19																	12461420		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461420C>A	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.979G>T	19.37:g.12461420C>A	ENSP00000242804:p.Gly327Trp					ZNF442_ENST00000438182.1_Missense_Mutation_p.G258W	p.G327W	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1561	-			327					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.979G>T	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.379391	0.42207	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.01051	5.4;5.4	0.832	-0.357	0.12579	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08358	0.0208	H	0.96080	3.765	0.34524	D	0.708446	D	0.89917	1.0	D	0.97110	1.0	T	0.05131	-1.0904	9	0.87932	D	0	.	5.1771	0.15141	0.0:0.7619:0.0:0.2381	.	327	Q9H7R0	ZN442_HUMAN	W	327;258	ENSP00000242804:G327W;ENSP00000388634:G258W	ENSP00000242804:G327W	G	-	1	0	ZNF442	12322420	0.009000	0.17119	0.000000	0.03702	0.227000	0.25037	0.946000	0.29069	-0.077000	0.12752	0.313000	0.20887	GGG		0.418	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		11	1006	1	0	3.07112e-06	3.07112e-06	0.000789711	11	1006					A	12461420	C	A	12461420	3	1	121	1	0	0	0	0	1	0	0	0	17968	652	23	3	908	3	ZNF442	19	12461420	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	5930271	12461420	46667563	180	38038											
ZNF208	7757	broad.mit.edu	37	chr19	22155223	22155223	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	taactaagggttgagggccaTttataggctttgccacattc	10	8	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	871					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.K771K(2)|p.K871K(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)				TTGAGGGCCATTTATAGGCTT	0.373																																						ENST00000397126.4																			3	Substitution - coding silent(3)	p.K771K(2)|p.K871K(1)	kidney(3)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2611-2613)aaA>aaG		zinc finger protein 208							47	50	49					19																	22155223		2074	4231	6305	SO:0001819	synonymous_variant	7757							g.chr19:22155223T>C	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.2613A>G	19.37:g.22155223T>C						ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	p.K871K	NM_007153.3	NP_009084.2					4	2761	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2613A>G	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	416	0	0	0	3.59834e-05	0	6	416					C	22155223	T	C	22155223	2	2	121	1	0	0	0	0	0	0	0	1	17819	1490	52	4		4	ZNF208	19	22155223	Silent	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	9693803	22155223	36973760	181	38039											
ZNF30	90075	broad.mit.edu	37	chr19	35434709	35434709	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atacctggttcaacatcagcGaattcataccagtgaaaaac	6	10	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:35434709G>T	ENST00000601142.1	+	5	1076	c.839G>T	c.(838-840)cGa>cTa	p.R280L	ZNF30_ENST00000439785.1_Missense_Mutation_p.R281L|ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L			P17039	ZNF30_HUMAN	zinc finger protein 30	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAACATCAGCGAATTCATACC	0.473																																						ENST00000439785.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16						c.(841-843)cGa>cTa		zinc finger protein 30							75	85	82					19																	35434709		2185	4290	6475	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434709G>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.839G>T	19.37:g.35434709G>T	ENSP00000469954:p.Arg280Leu					ZNF30_ENST00000303586.7_Missense_Mutation_p.R281L|ZNF30_ENST00000601142.1_Missense_Mutation_p.R280L|ZNF30_ENST00000426813.2_Missense_Mutation_p.R199L|ZNF30_ENST00000601957.1_3'UTR	p.R281L	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1286	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		280					A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.842G>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	12.92	2.082696	0.36758	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.25085	1.82;1.82	2.01	0.941	0.19519	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19565	0.0470	L	0.53617	1.68	0.22401	N	0.999136	P;P	0.49358	0.923;0.844	B;B	0.37144	0.242;0.2	T	0.20438	-1.0275	9	0.62326	D	0.03	.	6.149	0.20301	0.1854:0.0:0.8146:0.0	.	281;280	P17039-2;P17039	.;ZNF30_HUMAN	L	281;280;199;17	ENSP00000403441:R281L;ENSP00000416457:R199L	ENSP00000303889:R280L	R	+	2	0	ZNF30	40126549	0.002000	0.14202	0.016000	0.15963	0.100000	0.18952	1.241000	0.32743	1.121000	0.41925	0.404000	0.27445	CGA		0.473	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		8	337	1	0	2.17888e-05	2.17888e-05	0.00444706	8	337					T	35434709	G	T	35434709	3	4	121	1	0	0	0	0	1	0	0	0	17883	1058	37	3	856	3	ZNF30	19	35434709	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	13279486	35434709	23694274	182	38040											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			10	1207						10	1207	---	---	---	---	-	36255949	CTC	-	36255947	7	5	121	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-XN-A8T3-01A-11D-A36O-08	821238	36255947	22873036	183	38041											
ZNF461	92283	broad.mit.edu	37	chr19	37130742	37130742	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatgggcatgttttcatGgttaatcataagttgtctaa	8	4	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:37130742G>T	ENST00000588268.1	-	6	732	c.505C>A	c.(505-507)Cat>Aat	p.H169N	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)			ATGTTTTCATGGTTAATCATA	0.358																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(505-507)Cat>Aat		zinc finger protein 461							238	228	231					19																	37130742		1842	4102	5944	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130742G>T	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.505C>A	19.37:g.37130742G>T	ENSP00000467931:p.His169Asn					ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.H146N	p.H169N	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	732	-	Esophageal squamous(110;0.198)		169					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.505C>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.127098	0.01770	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05855	3.38	3.87	0.209	0.15226	.	.	.	.	.	T	0.04679	0.0127	L	0.39898	1.24	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.007	B;B;B	0.08055	0.002;0.003;0.003	T	0.45056	-0.9287	9	0.19590	T	0.45	.	3.5785	0.07943	0.2434:0.2122:0.5444:0.0	.	146;91;169	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	N	169;146;42;104	ENSP00000353515:H146N	ENSP00000353515:H146N	H	-	1	0	ZNF461	41822582	0.004000	0.15560	0.001000	0.08648	0.041000	0.13682	0.721000	0.25911	0.399000	0.25367	-0.150000	0.13652	CAT		0.358	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		14	976	1	0	9.31168e-06	9.31168e-06	0.00207751	14	976					T	37130742	G	T	37130742	3	4	121	1	0	0	0	0	1	0	0	0	17978	1348	47	3	1190	3	ZNF461	19	37130742	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	874795	37130742	21998241	184	38042											
ZNF285	26974	broad.mit.edu	37	chr19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acactcttcttgaaggttcaCgatataatcctgactcacag	6	11	4	2	rs140033872		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418																																						ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(274-276)Gtg>Atg		zinc finger protein 285							89	89	89					19																	44892133		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44892133C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.274G>A	19.37:g.44892133C>T	ENSP00000333595:p.Val92Met					CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M	p.V92M	NM_152354.3	NP_689567.3					4	338	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.274G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	T	4.739	0.137438	0.09032	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07021	3.23	3.33	0.726	0.18248	.	.	.	.	.	T	0.02727	0.0082	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46871	-0.9160	9	0.23891	T	0.37	.	4.9771	0.14146	0.0:0.1211:0.4682:0.4107	.	116;92	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	M	115;92	ENSP00000333595:V92M	ENSP00000333595:V92M	V	-	1	0	ZNF285	49583973	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.764000	0.04735	-0.369000	0.08028	-0.566000	0.04163	GTG		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		12	717	0	0	0	5.50884e-06	0	12	717					T	44892133	C	T	44892133	3	4	121	1	0	0	0	0	1	0	0	0	17875	536	19	1	1502	1	ZNF285	19	44892133	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7761391	44892133	14236850	185	38043											
ZNF160	90338	broad.mit.edu	37	chr19	53577428	53577428	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgacacattccggcgttcttGgttttcttgctattttcaca	7	10	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53577428G>T	ENST00000429604.1	-	6	651	c.236C>A	c.(235-237)cCa>cAa	p.P79Q	ZNF160_ENST00000601421.1_Missense_Mutation_p.P43Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000599729.1_5'Flank	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)		CGGCGTTCTTGGTTTTCTTGC	0.473																																						ENST00000601421.1																			0				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						c.(127-129)cCa>cAa		zinc finger protein 160							195	166	176					19																	53577428		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53577428G>T	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.236C>A	19.37:g.53577428G>T	ENSP00000406201:p.Pro79Gln					ZNF160_ENST00000355147.5_Missense_Mutation_p.P79Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.P79Q|ZNF160_ENST00000429604.1_Missense_Mutation_p.P79Q	p.P43Q			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	2	1004	-			79			KRAB.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.128C>A	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	8.875	0.950181	0.18431	.	.	ENSG00000170949	ENST00000429604;ENST00000418871;ENST00000355147	T;T;T	0.08102	3.13;3.13;5.47	1.96	0.634	0.17718	Krueppel-associated box (1);	.	.	.	.	T	0.09335	0.0230	L	0.56340	1.77	0.09310	N	1	B;P	0.42757	0.409;0.789	B;B	0.41135	0.184;0.348	T	0.21552	-1.0242	9	0.87932	D	0	.	5.804	0.18430	0.0:0.0:0.5984:0.4016	.	79;79	Q9BVY9;Q9HCG1	.;ZN160_HUMAN	Q	79	ENSP00000406201:P79Q;ENSP00000409597:P79Q;ENSP00000347273:P79Q	ENSP00000347273:P79Q	P	-	2	0	ZNF160	58269240	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	0.725000	0.25970	0.193000	0.20303	0.555000	0.69702	CCA		0.473	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		11	703	1	0	1.3612e-06	2.31682e-05	0.000368773	11	703					T	53577428	G	T	53577428	3	4	121	1	0	0	0	0	1	0	0	0	17792	1348	47	3	2228	3	ZNF160	19	53577428	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	8685295	53577428	5551555	186	38044											
ZNF347	84671	broad.mit.edu	37	chr19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tttacctccagtatgaactcTccgatgtcttgcaaggtgtg	9	10	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53644064T>C	ENST00000334197.7	-	5	2085	c.2017A>G	c.(2017-2019)Aga>Gga	p.R673G	ZNF347_ENST00000452676.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					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)		GTATGAACTCTCCGATGTCTT	0.428																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2020-2022)Aga>Gga		zinc finger protein 347							161	146	151					19																	53644064		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644064T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2017A>G	19.37:g.53644064T>C	ENSP00000334146:p.Arg673Gly					ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000601804.1_Intron	p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2446	-			673					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2020A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	9.306	1.054384	0.19907	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.02421	4.3;4.3	2.94	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	M	0.83692	2.655	0.09310	N	0.999998	B;P	0.38504	0.169;0.634	B;B	0.36418	0.034;0.224	T	0.23476	-1.0187	9	0.72032	D	0.01	.	5.9153	0.19052	0.0:0.2437:0.0:0.7563	.	674;673	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	673;674	ENSP00000334146:R673G;ENSP00000405218:R674G	ENSP00000334146:R673G	R	-	1	2	ZNF347	58335876	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.856000	0.01662	0.362000	0.24319	-0.256000	0.11100	AGA		0.428	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		11	921	0	0	0	1.64113e-05	0	11	921					C	53644064	T	C	53644064	3	2	121	1	0	0	0	0	1	0	0	0	17914	1559	54	4	506	4	ZNF347	19	53644064	Missense_Mutation	SNP	T	TCGA-XN-A8T3-01A-11D-A36O-08	66636	53644064	5484919	187	38045											
ZNF845	91664	broad.mit.edu	37	chr19	53855011	53855011	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tacaaatgtgaagaatgtgaCaaagctttcagtttcaaatc	7	6	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53855011C>T	ENST00000595091.1	+	5	1302	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ZNF845_ENST00000458035.1_Silent_p.D361D			Q96IR2	ZN845_HUMAN	zinc finger protein 845	361					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						AAGAATGTGACAAAGCTTTCA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1081-1083)gaC>gaT		zinc finger protein 845							34	32	33					19																	53855011		692	1591	2283	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855011C>T	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.1083C>T	19.37:g.53855011C>T						ZNF845_ENST00000595091.1_Silent_p.D361D	p.D361D	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1200	+			361						Silent	SNP	ENST00000595091.1	37	c.1083C>T	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	335	0	0	0	5.18039e-06	0	7	335					T	53855011	C	T	53855011	2	4	121	1	0	0	0	0	0	0	0	1	18244	477	17	2		2	ZNF845	19	53855011	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	210947	53855011	5273972	188	38046											
ZNF761	388561	broad.mit.edu	37	chr19	53958280	53958280	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgtccacgatgcttccttGgtttcaacagcccaaagaat	7	12	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:53958280G>T	ENST00000454407.1	+	0	972							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGCTTCCTTGGTTTCAACAG	0.383																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							97	102	101					19																	53958280		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958280G>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"Zinc fingers, C2H2-type"	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958280G>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	972	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		12	969	1	0	9.31168e-06	9.31168e-06	0.00207751	12	969					T	53958280	G	T	53958280	1	4	121	0	1	0	0	0	0	0	0	0	18189	1339	47	3		3	ZNF761	19	53958280	RNA	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	103269	53958280	5170703	189	38047											
LILRB1	10859	broad.mit.edu	37	chr19	55143067	55143068	+	Frame_Shift_Ins	INS	-	-	A													ggagtaccgtctatatagagINSaaaagaaaacagcactctgg							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:55143067_55143068insA	ENST00000396331.1	+	5	544_545	c.187_188insA	c.(187-189)gaafs	p.E63fs	LILRB1_ENST00000396315.1_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000418536.2_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000324602.7_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000448689.1_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000396332.4_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000434867.2_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000396321.2_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000396317.1_Frame_Shift_Ins_p.E63fs|LILRB1_ENST00000427581.2_Frame_Shift_Ins_p.E99fs|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396327.3_Frame_Shift_Ins_p.E63fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	63	Ig-like C2-type 1.				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)		TCTATATAGAGAAAAGAAAACA	0.569										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(187-189)aaafs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1																																				SO:0001589	frameshift_variant	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143067_55143068insA	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.191dupA	19.37:g.55143071_55143071dupA	ENSP00000379622:p.Glu63fs	HNSCC(37;0.09)				LILRB1_ENST00000427581.2_Frame_Shift_Ins_p.K99fs|LILRB1_ENST00000418536.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000434867.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396332.4_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000324602.7_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396315.1_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396327.3_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000448689.1_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396321.2_Frame_Shift_Ins_p.K63fs|LILRB1_ENST00000396317.1_Frame_Shift_Ins_p.K63fs	p.K63fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	544_545	+			63			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Frame_Shift_Ins	INS	ENST00000396331.1	37	c.187_188insA	CCDS42617.1																																																																																				0.569	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			83	569						83	569	---	---	---	---	A	55143068	-	A	55143067	7	5	121	1	0	1	1	0	0	0	0	0	8822	943	33	0	197	0	LILRB1	19	55143067	Frame_Shift_Ins	INS	-	TCGA-XN-A8T3-01A-11D-A36O-08	1184787	55143067	3985916	190	38048											
ZNF471	57573	broad.mit.edu	37	chr19	57035792	57035792	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tagctatggacttgagtgttCcacttttgaagaaaattgga	10	5	0	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57035792C>A	ENST00000308031.5	+	5	489	c.356C>A	c.(355-357)tCc>tAc	p.S119Y	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S119F(1)		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)		CTTGAGTGTTCCACTTTTGAA	0.378																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	ENST00000308031.5																			1	Substitution - Missense(1)	p.S119F(1)	lung(1)	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						c.(355-357)tCc>tAc		zinc finger protein 471							86	82	83					19																	57035792		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035792C>A	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.356C>A	19.37:g.57035792C>A	ENSP00000309161:p.Ser119Tyr					ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	p.S119Y	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	489	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	119					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.356C>A	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	C	8.530	0.870742	0.17322	.	.	ENSG00000196263	ENST00000308031	T	0.06687	3.27	3.95	1.61	0.23674	.	.	.	.	.	T	0.08358	0.0208	L	0.57536	1.79	0.09310	N	1	P	0.52842	0.956	P	0.44732	0.459	T	0.07233	-1.0783	9	0.02654	T	1	.	7.3183	0.26513	0.0:0.5848:0.3213:0.094	.	119	Q9BX82	ZN471_HUMAN	Y	119	ENSP00000309161:S119Y	ENSP00000309161:S119Y	S	+	2	0	ZNF471	61727604	0.002000	0.14202	0.005000	0.12908	0.940000	0.58332	0.172000	0.16704	0.378000	0.24764	0.563000	0.77884	TCC		0.378	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		8	445	1	0	2.17888e-05	2.17888e-05	0.00444706	8	445					A	57035792	C	A	57035792	3	1	121	1	0	0	0	0	1	0	0	0	17983	855	30	3	370	3	ZNF471	19	57035792	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	1892725	57035792	2093191	191	38049											
ZNF17	7565	broad.mit.edu	37	chr19	57932196	57932196	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccttatgaatgcaacAaatgtgggaaattctttagg	9	5	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57932196A>G	ENST00000601808.1	+	3	1549	c.1336A>G	c.(1336-1338)Aaa>Gaa	p.K446E	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000307658.7_Missense_Mutation_p.K448E	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	446					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)		TGAATGCAACAAATGTGGGAA	0.398																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1342-1344)Aaa>Gaa		zinc finger protein 17							82	86	85					19																	57932196		2190	4298	6488	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932196A>G	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1336A>G	19.37:g.57932196A>G	ENSP00000471905:p.Lys446Glu					ZNF17_ENST00000601808.1_Missense_Mutation_p.K446E|AC004076.7_ENST00000597410.1_Intron	p.K448E			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1605	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	446					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1342A>G	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.695047	0.00731	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.31	-3.81	0.04294	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	N	0.01134	-0.995	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35351	-0.9792	8	0.02654	T	1	.	7.5511	0.27798	0.4538:0.0:0.5462:0.0	.	448;446	P17021-2;P17021	.;ZNF17_HUMAN	E	446	.	ENSP00000302455:K446E	K	+	1	0	ZNF17	62624008	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.412000	0.02476	-0.938000	0.03714	-0.798000	0.03219	AAA		0.398	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		7	616	0	0	0	5.18039e-06	0	7	616					G	57932196	A	G	57932196	3	3	121	1	0	0	0	0	1	0	0	0	17796	131	5	4	1346	4	ZNF17	19	57932196	Missense_Mutation	SNP	A	TCGA-XN-A8T3-01A-11D-A36O-08	896404	57932196	1196787	192	38050											
ZNF772	400720	broad.mit.edu	37	chr19	57985561	57985561	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtgaaggtttgcaCtgaagcagaactgtttccca	13	8	0	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr19:57985561C>T	ENST00000343280.4	-	5	811	c.551G>A	c.(550-552)aGt>aAt	p.S184N	ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(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)		AAGGTTTGCACTGAAGCAGAA	0.483																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(550-552)aGt>aAt		zinc finger protein 772							118	103	108					19																	57985561		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985561C>T	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.551G>A	19.37:g.57985561C>T	ENSP00000341165:p.Ser184Asn					ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.S143N|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.S72N	p.S184N	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	811	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	184					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.551G>A	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	6.499	0.460340	0.12342	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584;ENST00000291809	T;T;T	0.10477	2.87;2.87;2.87	3.99	-3.85	0.04243	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.11560	0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.40794	-0.9544	9	0.37606	T	0.19	.	2.2791	0.04110	0.1337:0.3595:0.3269:0.1799	.	72;143;184	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	N	184;72;130;143;109	ENSP00000341165:S184N;ENSP00000395967:S72N;ENSP00000348992:S143N	ENSP00000291809:S109N	S	-	2	0	ZNF772	62677373	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-3.962000	0.00324	-0.300000	0.08895	-0.479000	0.04858	AGT		0.483	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		40	508	0	0	0	5.1965e-05	0	40	508					T	57985561	C	T	57985561	3	4	121	1	0	0	0	0	1	0	0	0	18198	565	20	2	922	2	ZNF772	19	57985561	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	53365	57985561	1143422	193	38051											
C20orf152	140894	broad.mit.edu	37	chr20	34596256	34596256	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatttaaggaattccagatCaaatcatatcctctgcaaga	6	8	3	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:34596256C>A	ENST00000373973.3	+	9	1181	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	CNBD2_ENST00000538900.1_Silent_p.I336I|CNBD2_ENST00000349339.1_Silent_p.I336I			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	336								p.I336I(1)									AATTCCAGATCAAATCATATC	0.408																																						ENST00000373973.3																			1	Substitution - coding silent(1)	p.I336I(1)	lung(1)								c.(1006-1008)atC>atA		cyclic nucleotide binding domain containing 2							101	113	109					20																	34596256		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34596256C>A	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1008C>A	20.37:g.34596256C>A						CNBD2_ENST00000349339.1_Silent_p.I336I|CNBD2_ENST00000538900.1_Silent_p.I336I	p.I336I							9	1181	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.1008C>A																																																																																					0.408	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		15	588	1	0	2.94398e-08	8.00594e-06	8.75768e-06	15	588					A	34596256	C	A	34596256	2	1	121	1	0	0	0	0	0	0	0	1	2099	816	29	3		3	C20orf152	20	34596256	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		34596256	28429264	194	38052											
C20orf24	55969	broad.mit.edu	37	chr20	35236149	35236149	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agatgtgatctactggttccGacagatcattgctgtggtcc	11	9	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:35236149G>T	ENST00000373852.5	+	2	281	c.146G>T	c.(145-147)cGa>cTa	p.R49L	C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L|C20orf24_ENST00000344795.3_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	49								p.R49L(2)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTGGTTCCGACAGATCATT	0.423																																						ENST00000344795.3																			2	Substitution - Missense(2)	p.R49L(2)	lung(2)	breast(1)|kidney(1)|lung(2)	4						c.(145-147)cGa>cTa		chromosome 20 open reading frame 24							176	162	167					20																	35236149		2203	4300	6503	SO:0001583	missense	55969							g.chr20:35236149G>T	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.146G>T	20.37:g.35236149G>T	ENSP00000362958:p.Arg49Leu					C20orf24_ENST00000373852.5_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L	p.R49L	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1					2	364	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)						E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	c.146G>T	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526283	0.96431	.	.	ENSG00000101084	ENST00000344795;ENST00000373852;ENST00000342422	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	M	0.89287	3.02	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	0.996;0.999;0.998;0.991;0.995	D	0.87290	0.2298	9	0.87932	D	0	-22.6447	17.5412	0.87848	0.0:0.0:1.0:0.0	.	49;49;49;49;49	Q9BUV8;Q5QPG6;Q9BUV8-2;Q9BUV8-3;Q9BUV8-4	CT024_HUMAN;.;.;.;.	L	49	.	ENSP00000341213:R49L	R	+	2	0	C20orf24	34669563	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.225000	0.95219	2.722000	0.93159	0.655000	0.94253	CGA		0.423	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840		8	416	1	0	1.49906e-05	1.49906e-05	0.0031734	8	416					T	35236149	G	T	35236149	3	4	121	1	0	0	0	0	1	0	0	0	2112	1058	37	3	152	3	C20orf24	20	35236149	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	639893	35236149	27789371	195	38053											
MYBL2	4605	broad.mit.edu	37	chr20	42338663	42338663	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccacacgccaaccccgttCaagaacgccctggagaagta	8	17	1	2			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:42338663C>A	ENST00000217026.4	+	10	1693	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	522					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAACCCCGTTCAAGAACGCCC	0.587																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(1564-1566)ttC>ttA		v-myb avian myeloblastosis viral oncogene homolog-like 2							189	187	187					20																	42338663		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42338663C>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1566C>A	20.37:g.42338663C>A	ENSP00000217026:p.Phe522Leu					MYBL2_ENST00000396863.4_Missense_Mutation_p.F498L	p.F522L	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1693	+		Myeloproliferative disorder(115;0.00452)	522					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1566C>A	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803233	0.70682	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.61274	0.12;0.12	4.86	3.92	0.45320	C-myb, C-terminal (1);	0.055487	0.85682	D	0.000000	T	0.74114	0.3674	M	0.84082	2.675	0.58432	D	0.999991	P;D	0.76494	0.7;0.999	B;D	0.79108	0.372;0.992	T	0.75783	-0.3196	10	0.62326	D	0.03	-25.04	8.884	0.35392	0.0:0.8249:0.0:0.1751	.	498;522	F8W6N6;P10244	.;MYBB_HUMAN	L	498;522	ENSP00000380072:F498L;ENSP00000217026:F522L	ENSP00000217026:F522L	F	+	3	2	MYBL2	41772077	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.304000	0.33482	1.197000	0.43143	0.467000	0.42956	TTC		0.587	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		15	863	1	0	3.45872e-05	3.45872e-05	0.00669873	15	863					A	42338663	C	A	42338663	3	1	121	1	0	0	0	0	1	0	0	0	10051	825	29	3	1604	3	MYBL2	20	42338663	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7102514	42338663	20686857	196	38054											
SALL4	57167	broad.mit.edu	37	chr20	50408346	50408348	+	In_Frame_Del	DEL	GCT	GCT	-													ggtgagctggatctgctgtaGctgctgctgctgcagacaca							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr20:50408346_50408348delGCT	ENST00000217086.4	-	2	785_787	c.674_676delAGC	c.(673-678)cagcta>cta	p.Q225del	SALL4_ENST00000395997.3_In_Frame_Del_p.Q225del|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	225					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						ATCTGCTGTAGCTGCTGCTGCTG	0.645																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(673-678)cta>c		spalt-like transcription factor 4																																				SO:0001651	inframe_deletion	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408346_50408348delGCT	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.674_676delAGC	20.37:g.50408355_50408357delGCT	ENSP00000217086:p.Gln225del					SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_In_Frame_Del_p.QL225del	p.QL225del	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	785_787	-			225					A2A2D8|Q540H3|Q6Y8G6	In_Frame_Del	DEL	ENST00000217086.4	37	c.674_676delAGC	CCDS13438.1																																																																																				0.645	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			10	345						10	345	---	---	---	---	-	50408348	GCT	-	50408346	7	5	121	1	0	1	0	1	0	0	0	0	13863	962	34	0	2497	0	SALL4	20	50408346	In_Frame_Del	DEL	GCT	TCGA-XN-A8T3-01A-11D-A36O-08	8069683	50408346	12617174	197	38055											
BRWD1	54014	broad.mit.edu	37	chr21	40582011	40582011	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagggctgtcataatttccCgcatctagagtttcccttac	7	11	2	1	rs182568595	byFrequency	TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:40582011C>A	ENST00000333229.2	-	36	4434	c.4107G>T	c.(4105-4107)gcG>gcT	p.A1369A	BRWD1_ENST00000342449.3_Silent_p.A1369A|BRWD1_ENST00000380800.3_Silent_p.A1369A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1369	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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)				CATAATTTCCCGCATCTAGAG	0.343																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4105-4107)gcG>gcT		bromodomain and WD repeat domain containing 1							97	95	96					21																	40582011		2202	4300	6502	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40582011C>A	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.4107G>T	21.37:g.40582011C>A						BRWD1_ENST00000380800.3_Silent_p.A1369A|BRWD1_ENST00000333229.2_Silent_p.A1369A	p.A1369A	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			36	4185	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1369			Bromo 2.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.4107G>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	8.213	0.800783	0.16397	.	.	ENSG00000185658	ENST00000424441	.	.	.	6.17	-12.3	0.00002	.	.	.	.	.	T	0.32071	0.0817	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46289	-0.9202	4	.	.	.	-3.6845	2.484	0.04594	0.3027:0.0696:0.222:0.4057	.	.	.	.	W	307	.	.	G	-	1	0	BRWD1	39503881	0.000000	0.05858	0.024000	0.17045	0.968000	0.65278	-2.124000	0.01318	-3.448000	0.00161	-0.181000	0.13052	GGG		0.343	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		8	420	1	0	3.86212e-05	3.86212e-05	0.00711662	8	420					A	40582011	C	A	40582011	2	1	121	1	0	0	0	0	0	0	0	1	1529	639	23	3		3	BRWD1	21	40582011	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		40582011	7547884	198	38056											
PKNOX1	5316	broad.mit.edu	37	chr21	44448897	44448897	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacaaagaaaaaaactgctCagaaccggccagttcagagg	9	9	2	3			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr21:44448897C>A	ENST00000291547.5	+	10	1223	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	338					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AAAAACTGCTCAGAACCGGCC	0.502																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(1012-1014)Cag>Aag		PBX/knotted 1 homeobox 1							107	119	115					21																	44448897		2203	4300	6503	SO:0001583	missense	5316						sequence-specific DNA binding	g.chr21:44448897C>A		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1012C>A	21.37:g.44448897C>A	ENSP00000291547:p.Gln338Lys					PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Missense_Mutation_p.Q221K	p.Q338K	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			10	1223	+			338					O00528|Q8IWT7	Missense_Mutation	SNP	ENST00000291547.5	37	c.1012C>A	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617943	0.87359	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.86562	-1.86;-2.14	5.39	5.39	0.77823	.	0.171230	0.53938	D	0.000057	D	0.86952	0.6057	L	0.60455	1.87	0.80722	D	1	B;P	0.36837	0.349;0.571	B;B	0.39027	0.142;0.288	D	0.85519	0.1202	10	0.36615	T	0.2	-32.1223	19.5223	0.95190	0.0:1.0:0.0:0.0	.	338;338	P55347;P55347-2	PKNX1_HUMAN;.	K	338;221	ENSP00000291547:Q338K;ENSP00000402243:Q221K	ENSP00000291547:Q338K	Q	+	1	0	PKNOX1	43321966	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.992000	0.76238	2.691000	0.91804	0.655000	0.94253	CAG		0.502	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			14	753	1	0	9.31168e-06	9.31168e-06	0.00207751	14	753					A	44448897	C	A	44448897	3	1	121	1	0	0	0	0	1	0	0	0	12024	827	29	3	1046	3	PKNOX1	21	44448897	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	3866886	44448897	3680998	199	38057											
TUBA8	51807	broad.mit.edu	37	chr22	18606952	18606952	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggaacctaccgccagCtcttccatccagagcagctg	11	15	1	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:18606952C>T	ENST00000330423.3	+	3	329	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	86					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						CTACCGCCAGCTCTTCCATCC	0.582																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(256-258)Ctc>Ttc		tubulin, alpha 8							65	60	62					22																	18606952		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18606952C>T	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.256C>T	22.37:g.18606952C>T	ENSP00000333326:p.Leu86Phe					TUBA8_ENST00000316027.6_Missense_Mutation_p.L20F	p.L86F	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			3	329	+			86					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.256C>T	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565399	0.65651	.	.	ENSG00000183785	ENST00000426208;ENST00000316027;ENST00000330423;ENST00000416740	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.11	5.11	0.69529	Tubulin/FtsZ, GTPase domain (4);	0.065611	0.64402	N	0.000012	D	0.88599	0.6480	H	0.95224	3.64	0.54753	D	0.999981	P;D;P	0.76494	0.767;0.999;0.767	B;D;B	0.67103	0.356;0.949;0.36	D	0.91998	0.5608	10	0.87932	D	0	.	17.8832	0.88846	0.0:1.0:0.0:0.0	.	110;86;85	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	F	20;20;86;110	ENSP00000407624:L20F;ENSP00000318575:L20F;ENSP00000333326:L86F;ENSP00000412646:L110F	ENSP00000318575:L20F	L	+	1	0	TUBA8	16986952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.554000	0.86153	0.462000	0.41574	CTC		0.582	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		15	160	0	0	0	2.31682e-05	0	15	160					T	18606952	C	T	18606952	3	4	121	1	0	0	0	0	1	0	0	0	16804	797	28	2	266	2	TUBA8	22	18606952	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08		18606952	32697614	200	38058											
ZNF280A	129025	broad.mit.edu	37	chr22	22868515	22868515	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaacccttgcagttgctcCggctttttaaatgtttgatg	11	8	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:22868515C>T	ENST00000302097.3	-	2	1692	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	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)			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)		GCAGTTGCTCCGGCTTTTTAA	0.443																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(1438-1440)ccG>ccA		zinc finger protein 280A							133	118	123					22																	22868515		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868515C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"zinc finger protein 280", "suppressor of hairy wing homolog 1 (Drosophila)"	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1440G>A	22.37:g.22868515C>T							p.P480P	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1692	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	480						Silent	SNP	ENST00000302097.3	37	c.1440G>A	CCDS13800.1																																																																																				0.443	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		53	511	0	0	0	2.47226e-05	0	53	511					T	22868515	C	T	22868515	2	4	121	1	0	0	0	0	0	0	0	1	17867	639	23	1		1	ZNF280A	22	22868515	Silent	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	4261563	22868515	28436051	201	38059											
CCDC157	550631	broad.mit.edu	37	chr22	30766541	30766541	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccactcccagaccattgagaCggccctggtgccctgtgacg	11	16	0	3	rs536552530		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:30766541C>T	ENST00000405659.1	+	5	1356	c.647C>T	c.(646-648)aCg>aTg	p.T216M	CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	216										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACCATTGAGACGGCCCTGGTG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20139	0.0		0.0	False		,,,				2504	0.0					ENST00000405659.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						c.(646-648)aCg>aTg		coiled-coil domain containing 157							92	81	84					22																	30766541		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30766541C>T	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.647C>T	22.37:g.30766541C>T	ENSP00000385357:p.Thr216Met					CCDC157_ENST00000338306.3_Missense_Mutation_p.T216M	p.T216M			Q569K6	CC157_HUMAN			5	1356	+			216					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.647C>T	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961385	0.92791	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.32515	1.45;1.45	5.54	5.54	0.83059	.	0.129526	0.53938	D	0.000060	T	0.55273	0.1910	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.54490	-0.8286	10	0.87932	D	0	-22.7807	19.2866	0.94077	0.0:1.0:0.0:0.0	.	216	Q569K6	CC157_HUMAN	M	216	ENSP00000385357:T216M;ENSP00000343087:T216M	ENSP00000343087:T216M	T	+	2	0	CCDC157	29096541	1.000000	0.71417	0.959000	0.39883	0.856000	0.48823	7.005000	0.76323	2.884000	0.98904	0.655000	0.94253	ACG		0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437		27	244	0	0	0	9.90768e-06	0	27	244					T	30766541	C	T	30766541	3	4	121	1	0	0	0	0	1	0	0	0	2796	536	19	1	657	1	CCDC157	22	30766541	Missense_Mutation	SNP	C	TCGA-XN-A8T3-01A-11D-A36O-08	7898026	30766541	20538025	202	38060											
CSF2RB	1439	broad.mit.edu	37	chr22	37333569	37333569	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccccagccaggcccGcctgccgcctcccacacacc	7	26	0	0	rs140662059		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:37333569G>A	ENST00000403662.3	+	14	1941	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000262825.5_Silent_p.P579P|CSF2RB_ENST00000536485.1_Silent_p.P520P			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	573					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)	AGCCAGGCCCGCCTGCCGCCT	0.647																																						ENST00000262825.5																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1735-1737)ccG>ccA		colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)	G		0,4404		0,0,2202	21	24	23		1719	-10.7	0	22	dbSNP_134	23	2,8592		0,2,4295	no	coding-synonymous	CSF2RB	NM_000395.2		0,2,6497	AA,AG,GG		0.0233,0.0,0.0154		573/898	37333569	2,12996	2202	4297	6499	SO:0001819	synonymous_variant	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37333569G>A	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.1719G>A	22.37:g.37333569G>A						CSF2RB_ENST00000406230.1_Silent_p.P579P|CSF2RB_ENST00000403662.3_Silent_p.P573P|CSF2RB_ENST00000536485.1_Silent_p.P520P	p.P579P	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN			14	1954	+			573					Q5JZI1|Q6ICE0	Silent	SNP	ENST00000403662.3	37	c.1737G>A	CCDS13936.1																																																																																				0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395		16	96	0	0	0	8.00594e-06	0	16	96					A	37333569	G	A	37333569	2	1	121	1	0	0	0	0	0	0	0	1	3946	1074	38	1		1	CSF2RB	22	37333569	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	6567028	37333569	13970997	203	38061											
C22orf23	84645	broad.mit.edu	37	chr22	38343336	38343336	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgtaggccccattggcttGacacatgttggcaggccgga	14	11	0	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:38343336G>T	ENST00000249079.2	-	4	557	c.301C>A	c.(301-303)Caa>Aaa	p.Q101K	C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	101										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCATTGGCTTGACACATGTTG	0.597																																						ENST00000249079.2																			0				endometrium(3)|kidney(2)|large_intestine(7)	12						c.(301-303)Caa>Aaa		chromosome 22 open reading frame 23							107	95	99					22																	38343336		2203	4300	6503	SO:0001583	missense	84645							g.chr22:38343336G>T	AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.301C>A	22.37:g.38343336G>T	ENSP00000249079:p.Gln101Lys					C22orf23_ENST00000403305.1_Missense_Mutation_p.Q101K|C22orf23_ENST00000403026.1_Missense_Mutation_p.Q101K	p.Q101K			Q9BZE7	EVG1_HUMAN			4	557	-	Melanoma(58;0.045)		101					Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	c.301C>A	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240528	0.39598	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.38	5.38	0.77491	.	0.060861	0.64402	D	0.000005	T	0.56659	0.2000	M	0.67953	2.075	0.36778	D	0.884186	D	0.56968	0.978	P	0.54499	0.754	T	0.64478	-0.6398	10	0.48119	T	0.1	-15.7245	17.308	0.87200	0.0:0.0:1.0:0.0	.	101	Q9BZE7	EVG1_HUMAN	K	101	ENSP00000384667:Q101K;ENSP00000249079:Q101K;ENSP00000384618:Q101K;ENSP00000395077:Q101K;ENSP00000407707:Q101K	ENSP00000249079:Q101K	Q	-	1	0	C22orf23	36673282	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.719000	0.68462	2.504000	0.84457	0.555000	0.69702	CAA		0.597	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561		15	535	1	0	4.72057e-08	7.33532e-06	1.38614e-05	15	535					T	38343336	G	T	38343336	3	4	121	1	0	0	0	0	1	0	0	0	2144	1299	45	3	368	3	C22orf23	22	38343336	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	1009767	38343336	12961230	204	38062											
SMC1B	27127	broad.mit.edu	37	chr22	45765841	45765841	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttataaaaataccttttttGatcaatttcttgttgccgtt	4	6	2	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chr22:45765841G>T	ENST00000357450.4	-	15	2412	c.2413C>A	c.(2413-2415)Caa>Aaa	p.Q805K	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	805					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)		TACCTTTTTTGATCAATTTCT	0.294																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2413-2415)Caa>Aaa		structural maintenance of chromosomes 1B							48	48	48					22																	45765841		1791	4053	5844	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45765841G>T	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.2413C>A	22.37:g.45765841G>T	ENSP00000350036:p.Gln805Lys					SMC1B_ENST00000404354.3_Missense_Mutation_p.Q805K	p.Q805K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	2412	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	805					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2413C>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	3.668	-0.068042	0.07228	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77877	-1.13;-0.93	5.79	3.6	0.41247	RecF/RecN/SMC (1);	0.107611	0.40064	N	0.001198	T	0.45617	0.1351	N	0.01289	-0.905	0.29170	N	0.877191	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.001	T	0.37454	-0.9705	10	0.02654	T	1	.	12.0528	0.53515	0.0:0.0:0.4371:0.5629	.	805;805;805	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	K	805	ENSP00000350036:Q805K;ENSP00000385902:Q805K	ENSP00000350036:Q805K	Q	-	1	0	SMC1B	44144505	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.708000	0.61859	1.423000	0.47198	0.585000	0.79938	CAA		0.294	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		15	466	1	0	2.31682e-05	2.31682e-05	0.00456484	15	466					T	45765841	G	T	45765841	3	4	121	1	0	0	0	0	1	0	0	0	14832	1299	45	3	1338	3	SMC1B	22	45765841	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	7422505	45765841	5538725	205	38063											
STS	412	broad.mit.edu	37	chrX	7268006	7268006	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acggatgctttgccacacacGtgtgcttctgtttcgggagt	12	10	1	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:7268006G>A	ENST00000217961.4	+	10	1676	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	486					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	TGCCACACACGTGTGCTTCTG	0.488									Ichthyosis																													ENST00000217961.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(1456-1458)Gtg>Atg		steroid sulfatase (microsomal), isozyme S	Estrone(DB00655)						111	97	102					X																	7268006		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7268006G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"Arylsulfatase family"	11425	protein-coding gene	gene with protein product	"arylsulfatase C"	300747	"steroid sulfatase (microsomal), arylsulfatase C, isozyme S"	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1456G>A	X.37:g.7268006G>A	ENSP00000217961:p.Val486Met						p.V486M	NM_000351.4	NP_000342.2	P08842	STS_HUMAN			10	1676	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	486					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1456G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928468	0.34002	.	.	ENSG00000101846	ENST00000217961	D	0.91068	-2.78	4.22	4.22	0.49857	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.186047	0.33023	N	0.005369	D	0.91432	0.7296	M	0.85630	2.765	0.35164	D	0.770921	P	0.51147	0.942	B	0.43301	0.415	D	0.94820	0.7986	10	0.49607	T	0.09	.	14.6151	0.68541	0.0:0.0:1.0:0.0	.	486	P08842	STS_HUMAN	M	486	ENSP00000217961:V486M	ENSP00000217961:V486M	V	+	1	0	STS	7278006	0.997000	0.39634	0.494000	0.27515	0.029000	0.11900	2.447000	0.44917	1.720000	0.51447	0.600000	0.82982	GTG		0.488	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		50	263	0	0	0	2.47226e-05	0	50	263					A	7268006	G	A	7268006	3	1	121	1	0	0	0	0	1	0	0	0	15384	1145	40	1	1494	1	STS	23	7268006	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08		7268006	148002554	206	38064											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	9	17	2	0	rs145580328		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51	56	55					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	391	0	0	0	5.50884e-06	0	10	391					G	37028425	A	G	37028425	3	3	121	1	0	0	0	0	1	0	0	0	5596	130	5	4	1944	4	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-XN-A8T3-01A-11D-A36O-08	29760419	37028425	118242135	207	38065											
FAM155B	27112	broad.mit.edu	37	chrX	68725672	68725672	+	Frame_Shift_Del	DEL	A	A	-													cggccgagttcccctccgccAaaaaaaacttgctcaaaggc							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:68725672delA	ENST00000252338.4	+	1	589	c.547delA	c.(547-549)aaafs	p.K184fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	184						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCCTCCGCCAAAAAAAACTT	0.592																																						ENST00000252338.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						c.(547-549)aafs		family with sequence similarity 155, member B							42	43	43					X																	68725672		2203	4300	6503	SO:0001589	frameshift_variant	27112					integral to membrane		g.chrX:68725672delA	AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.547delA	X.37:g.68725672delA	ENSP00000252338:p.Lys184fs						p.K184fs	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN			1	589	+			184					B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Del	DEL	ENST00000252338.4	37	c.547delA	CCDS35317.1																																																																																				0.592	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057037.1	NM_015686		7	206						7	206	---	---	---	---	-	68725672	A	-	68725672	7	5	121	1	0	1	0	1	0	0	0	0	5487	131	5	0	549	0	FAM155B	23	68725672	Frame_Shift_Del	DEL	A	TCGA-XN-A8T3-01A-11D-A36O-08	31697247	68725672	86544888	208	38066											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-													gcaaacctaggtcaggggctGaggaggaggaggaagagaat							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"Basic helix-loop-helix proteins", "Armadillo repeat containing"	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		12	487						12	487	---	---	---	---	-	102004421	GAG	-	102004419	7	5	121	1	0	1	0	1	0	0	0	0	1422	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-XN-A8T3-01A-11D-A36O-08	33278747	102004419	53266141	209	38067											
LUZP4	51213	broad.mit.edu	37	chrX	114540856	114540856	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catcaatcagaaggaaatccGgacaaatcagaagaatccca	7	10	3	3	rs148942179		TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:114540856G>A	ENST00000371920.3	+	4	436	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LUZP4_ENST00000451986.2_Silent_p.P61P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	143						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						AAGGAAATCCGGACAAATCAG	0.473																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(427-429)ccG>ccA		leucine zipper protein 4		G		0,3835		0,0,1632,571	85	80	82		429	-2.5	0	X	dbSNP_134	82	2,6726		0,2,2426,1872	no	coding-synonymous	LUZP4	NM_016383.3		0,2,4058,2443	AA,AG,GG,G		0.0297,0.0,0.0189		143/314	114540856	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	51213					nucleus		g.chrX:114540856G>A	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"cancer/testis antigen 28"	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.429G>A	X.37:g.114540856G>A						LUZP4_ENST00000451986.2_Silent_p.P61P	p.P143P	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	436	+			143					B3KSD6	Silent	SNP	ENST00000371920.3	37	c.429G>A	CCDS14567.1																																																																																				0.473	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		37	166	0	0	0	1.8613e-05	0	37	166					A	114540856	G	A	114540856	2	1	121	1	0	0	0	0	0	0	0	1	9126	1103	39	1		1	LUZP4	23	114540856	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	12536437	114540856	40729704	210	38068											
HTATSF1	27336	broad.mit.edu	37	chrX	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-													agggagaatatgatgcctcaAagaagaagaagaagtgcaaa							TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				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)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	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.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		7	375						7	375	---	---	---	---	-	135585050	AAG	-	135585048	7	5	121	1	0	1	0	1	0	0	0	0	7463	15	1	0	700	0	HTATSF1	23	135585048	In_Frame_Del	DEL	AAG	TCGA-XN-A8T3-01A-11D-A36O-08	21044192	135585048	19685512	211	38069											
SLITRK4	139065	broad.mit.edu	37	chrX	142716900	142716900	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcagtccatcttttttattGgttttgtggtcatgcttcct	7	9	3	0			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:142716900G>T	ENST00000381779.4	-	2	2250	c.2025C>A	c.(2023-2025)acC>acA	p.T675T	SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	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	675						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)					CTTTTTTATTGGTTTTGTGGT	0.483																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2023-2025)acC>acA		SLIT and NTRK-like family, member 4							123	125	124					X																	142716900		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716900G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2025C>A	X.37:g.142716900G>T						SLITRK4_ENST00000356928.1_Silent_p.T675T|SLITRK4_ENST00000338017.4_Silent_p.T675T	p.T675T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2250	-	Acute lymphoblastic leukemia(192;6.56e-05)		675					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2025C>A	CCDS14679.1																																																																																				0.483	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		9	408	1	0	3.86212e-05	3.86212e-05	0.00711662	9	408					T	142716900	G	T	142716900	2	4	121	1	0	0	0	0	0	0	0	1	14795	1335	47	3		3	SLITRK4	23	142716900	Silent	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	7131852	142716900	12553660	212	38070											
CD99L2	83692	broad.mit.edu	37	chrX	149983362	149983362	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcctatacccggtttcctgcGgccatcatcttgatcatcca	6	15	3	1			TCGA-XN-A8T3-01A-11D-A36O-08	TCGA-XN-A8T3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf08adf-ece6-4625-8279-2994b8acb873	165d0321-64d0-4625-be7b-5c3403120bd9	g.chrX:149983362G>T	ENST00000370377.3	-	4	367	c.250C>A	c.(250-252)Cgc>Agc	p.R84S	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	84					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTCCTGCGGCCATCATCT	0.453																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(250-252)Cgc>Agc		CD99 molecule-like 2							179	167	171					X																	149983362		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149983362G>T	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.250C>A	X.37:g.149983362G>T	ENSP00000359403:p.Arg84Ser					CD99L2_ENST00000437787.2_Missense_Mutation_p.R84S|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	p.R84S	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			4	367	-	Acute lymphoblastic leukemia(192;6.56e-05)		84					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.250C>A	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	G	2.949	-0.217209	0.06101	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000437787;ENST00000418547	T	0.21361	2.01	2.07	1.19	0.21007	.	15.027200	0.00897	U	0.002304	T	0.26011	0.0634	M	0.66939	2.045	0.09310	N	1	B;B	0.25105	0.118;0.058	B;B	0.30179	0.112;0.009	T	0.17806	-1.0357	9	.	.	.	.	4.0882	0.09957	0.2226:0.0:0.7774:0.0	.	84;84	E9PD27;Q8TCZ2	.;C99L2_HUMAN	S	84;88;84;47	ENSP00000394858:R84S	.	R	-	1	0	CD99L2	149734020	0.016000	0.18221	0.003000	0.11579	0.096000	0.18686	1.263000	0.33004	0.324000	0.23333	0.292000	0.19580	CGC		0.453	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		9	561	1	0	5.50884e-06	5.50884e-06	0.00130912	9	561					T	149983362	G	T	149983362	3	4	121	1	0	0	0	0	1	0	0	0	3060	1116	39	3	570	3	CD99L2	23	149983362	Missense_Mutation	SNP	G	TCGA-XN-A8T3-01A-11D-A36O-08	7266462	149983362	5287198	213	38071											
CROCC	9696	broad.mit.edu	37	chr1	17266463	17266463	+	Silent	SNP	C	C	T													cagcttagcgacagcgagagCgagcggcgggccctagagga					rs374771140		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266463C>T	ENST00000375541.5	+	13	1752	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACAGCGAGAGCGAGCGGCGGG	0.692																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1681-1683)agC>agT		ciliary rootlet coiled-coil, rootletin		C		1,4399		0,1,2199	41	40	40		1683	-9.8	0.1	1		40	1,8583		0,1,4291	no	coding-synonymous	CROCC	NM_014675.3		0,2,6490	TT,TC,CC		0.0116,0.0227,0.0154		561/2018	17266463	2,12982	2200	4292	6492	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266463C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1683C>T	1.37:g.17266463C>T						CROCC_ENST00000467938.1_3'UTR	p.S561S	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1752	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	561						Silent	SNP	ENST00000375541.5	37	c.1683C>T	CCDS30616.1																																																																																				0.692	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		6	490	0	0	0	1	0	6	490					T	17266463	C	T	17266463	2	4	122	1	0	0	0	0	0	0	0	1	3902	767	27	1		1	CROCC	1	17266463	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		17266463	231984158	1	38072	233	2									
CROCC	9696	broad.mit.edu	37	chr1	17266471	17266471	+	Missense_Mutation	SNP	G	G	A													cgacagcgagagcgagcggcGggccctagaggaacagctgc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:17266471G>A	ENST00000375541.5	+	13	1760	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCGAGCGGCGGGCCCTAGAG	0.706																																						ENST00000375541.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(1690-1692)cGg>cAg		ciliary rootlet coiled-coil, rootletin							37	35	36					1																	17266471		2202	4293	6495	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17266471G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1691G>A	1.37:g.17266471G>A	ENSP00000364691:p.Arg564Gln					CROCC_ENST00000467938.1_3'UTR	p.R564Q	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	13	1760	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	564						Missense_Mutation	SNP	ENST00000375541.5	37	c.1691G>A	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845799	0.51164	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10960	2.82	4.89	4.89	0.63831	.	.	.	.	.	T	0.25195	0.0612	L	0.52126	1.63	0.50467	D	0.999872	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.81914	0.786;0.905;0.995	T	0.01626	-1.1309	9	0.15499	T	0.54	.	16.3533	0.83225	0.0:0.0:1.0:0.0	.	427;427;564	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	Q	564;445	ENSP00000364691:R564Q	ENSP00000364691:R564Q	R	+	2	0	CROCC	17139058	0.368000	0.25031	0.853000	0.33588	0.524000	0.34500	3.069000	0.50026	2.651000	0.90000	0.561000	0.74099	CGG		0.706	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		6	455	0	0	0	1	0	6	455					A	17266471	G	A	17266471	3	1	122	1	0	0	0	0	1	0	0	0	3902	1116	39	1	1741	1	CROCC	1	17266471	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	8	17266471	231984150	2	38073	233	2									
CCDC30	728621	broad.mit.edu	37	chr1	43102964	43102964	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcttcaaaaagtcaagtatcGtttaactaatgaagtagaac	7	6	2	2	rs373736967		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:43102964G>A	ENST00000340612.4	+	10	1553	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	CCDC30_ENST00000390640.4_Missense_Mutation_p.R307H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R307H|CCDC30_ENST00000342022.4_Missense_Mutation_p.R518H|CCDC30_ENST00000428554.2_Missense_Mutation_p.R518H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	518						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						GTCAAGTATCGTTTAACTAAT	0.289																																						ENST00000428554.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1552-1554)cGt>cAt		coiled-coil domain containing 30							63	64	64					1																	43102964		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43102964G>A	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1553G>A	1.37:g.43102964G>A	ENSP00000340378:p.Arg518His					CCDC30_ENST00000342022.4_Missense_Mutation_p.R518H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R307H|CCDC30_ENST00000340612.4_Missense_Mutation_p.R518H|CCDC30_ENST00000390640.4_Missense_Mutation_p.R307H	p.R518H			Q5VVM6	CCD30_HUMAN			18	2696	+			518					Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.1553G>A	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	1.478	-0.557961	0.03967	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.15	-4.26	0.03755	.	0.936186	0.09089	N	0.850066	T	0.21022	0.0506	N	0.20685	0.6	0.09310	N	1	B;B	0.26041	0.004;0.14	B;B	0.14578	0.004;0.011	T	0.16482	-1.0401	10	0.28530	T	0.3	.	6.4888	0.22103	0.4884:0.0:0.3932:0.1184	.	518;307	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	H	518;307;518;518;307	ENSP00000397035:R518H;ENSP00000426711:R307H;ENSP00000340378:R518H;ENSP00000339280:R518H;ENSP00000375051:R307H	ENSP00000340378:R518H	R	+	2	0	CCDC30	42875551	0.000000	0.05858	0.008000	0.14137	0.303000	0.27691	-1.863000	0.01651	-0.705000	0.05035	-0.378000	0.06908	CGT		0.289	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		8	350	0	0	0	1	0	8	350					A	43102964	G	A	43102964	3	1	122	1	0	0	0	0	1	0	0	0	2812	1145	40	1	1591	1	CCDC30	1	43102964	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	25836493	43102964	206147657	3	38074											
ZCCHC11	23318	broad.mit.edu	37	chr1	52991403	52991403	+	Frame_Shift_Del	DEL	T	T	-													agaagtaaaggagcttggaaTtttttttccaatctgttgta					rs180741095		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:52991403delT	ENST00000371544.3	-	2	812	c.550delA	c.(550-552)attfs	p.I184fs	ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs|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	184					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						GAGCTTGGAATTTTTTTTCCA	0.408																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(550-552)ttfs		zinc finger, CCHC domain containing 11							164	171	169					1																	52991403		2203	4300	6503	SO:0001589	frameshift_variant	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991403delT	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.550delA	1.37:g.52991403delT	ENSP00000360599:p.Ile184fs					ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000371541.1_5'UTR	p.I184fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			2	812	-			184					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	ENST00000371544.3	37	c.550delA	CCDS30716.1																																																																																				0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		7	1220						7	1220	---	---	---	---	-	52991403	T	-	52991403	7	5	122	1	0	1	0	1	0	0	0	0	17633	1493	52	0	4503	0	ZCCHC11	1	52991403	Frame_Shift_Del	DEL	T	TCGA-XN-A8T5-01A-12D-A36O-08	9888439	52991403	196259218	4	38075											
C1orf103	55791	broad.mit.edu	37	chr1	111494397	111494397	+	Frame_Shift_Del	DEL	T	T	-													atggcagaacatctgtccccTttttagccaacagatagact							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:111494397delT	ENST00000369763.4	-	2	1499	c.1109delA	c.(1108-1110)aagfs	p.K370fs	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	370					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						ATCTGTCCCCTTTTTAGCCAA	0.398																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1108-1110)agfs		ligand dependent nuclear receptor interacting factor 1							142	146	145					1																	111494397		2203	4300	6503	SO:0001589	frameshift_variant	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111494397delT	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.1109delA	1.37:g.111494397delT	ENSP00000358778:p.Lys370fs					LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	p.K370fs	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1499	-			370					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Frame_Shift_Del	DEL	ENST00000369763.4	37	c.1109delA	CCDS30800.1																																																																																				0.398	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		7	949						7	949	---	---	---	---	-	111494397	T	-	111494397	7	5	122	1	0	1	0	1	0	0	0	0	1984	1609	56	0	1212	0	C1orf103	1	111494397	Frame_Shift_Del	DEL	T	TCGA-XN-A8T5-01A-12D-A36O-08	58502994	111494397	137756224	5	38076											
NBPF9	400818	broad.mit.edu	37	chr1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A													agtcttgcaggactcactggGtagatggtattcgactcctt							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825409G>A	ENST00000440491.2	+	11	1361	c.1361G>A	c.(1360-1362)gGt>gAt	p.G454D	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	712	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GACTCACTGGGTAGATGGTAT	0.493																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1360-1362)gGt>gAt		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825409G>A		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1361G>A	1.37:g.144825409G>A	ENSP00000390934:p.Gly454Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	p.G454D	NM_001037675.2	NP_001032764.1					11	1361	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1361G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0|0	-2.594425|-2.594425	0.00126|0.00126	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000440491|ENST00000375552	T|.	0.03124|.	4.04|.	1.03|1.03	-1.95|-1.95	0.07548|0.07548	.|.	.|.	.|.	.|.	.|.	T|T	0.11707|0.11707	0.0285|0.0285	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32508|0.32508	-0.9904|-0.9904	6|4	0.02654|.	T|.	1|.	.|.	6.4945|6.4945	0.22133|0.22133	0.3592:0.0:0.6408:0.0|0.3592:0.0:0.6408:0.0	.|.	.|.	.|.	.|.	D|I	454|453	ENSP00000390934:G454D|.	ENSP00000390934:G454D|.	G|V	+|+	2|1	0|0	NBPF9|NBPF9	143536766|143536766	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-0.176000|-0.176000	0.09811|0.09811	-1.412000|-1.412000	0.02030|0.02030	-1.220000|-1.220000	0.01600|0.01600	GGT|GTA		0.493	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	702	0	0	0	1	0	7	702					A	144825409	G	A	144825409	3	1	122	1	0	0	0	0	1	0	0	0	10241	1261	44	2	2195	2	NBPF9	1	144825409	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	33331012	144825409	104425212	6	38077	234	2									
NBPF9	400818	broad.mit.edu	37	chr1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T													caggactcactgggtagatgGtattcgactccttcaggtta							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000338347.4_Intron	p.W456C	NM_001037675.2	NP_001032764.1					11	1368	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	753	1	0	1	1	1	7	753					T	144825416	G	T	144825416	3	4	122	1	0	0	0	0	1	0	0	0	10241	1270	44	3	2202	3	NBPF9	1	144825416	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	7	144825416	104425205	7	38078	234	2									
NBPF9	400818	broad.mit.edu	37	chr1	144828545	144828545	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctccttttccaggctcAacggcgtgctgatggaagtg	12	10	2	1	rs199609970	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:144828545A>T	ENST00000281815.8	+	13	1131	c.385A>T	c.(385-387)Aac>Tac	p.N129Y	NBPF9_ENST00000440491.2_Silent_p.S604S|NBPF9_ENST00000338347.4_Missense_Mutation_p.N531Y|NBPF9_ENST00000468645.1_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	789						cytoplasm (GO:0005737)		p.N531Y(1)		NS(2)|prostate(1)	3						TTCCAGGCTCAACGGCGTGCT	0.453																																						ENST00000338347.4																			1	Substitution - Missense(1)	p.N531Y(1)	endometrium(1)	NS(2)|prostate(1)	3						c.(1591-1593)Aac>Tac		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144828545A>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"neuroblastoma breakpoint family"	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.385A>T	1.37:g.144828545A>T	ENSP00000281815:p.Asn129Tyr					NBPF9_ENST00000440491.2_Silent_p.S604S|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.N129Y	p.N531Y							14	1591	+									Missense_Mutation	SNP	ENST00000281815.8	37	c.1591A>T		.	.	.	.	.	.	.	.	.	.	.	9.174	1.021883	0.19433	.	.	ENSG00000168614	ENST00000338347;ENST00000281815	T;T	0.07444	3.19;3.19	0.618	-1.24	0.09435	.	.	.	.	.	T	0.07638	0.0192	.	.	.	0.09310	N	1	D;P;B;B;P	0.71674	0.998;0.6;0.02;0.011;0.716	D;P;B;B;B	0.63488	0.915;0.701;0.029;0.084;0.194	T	0.12041	-1.0563	7	0.51188	T	0.08	.	.	.	.	.	595;191;762;537;604	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.;.;.;.;.	Y	531;129	ENSP00000342975:N531Y;ENSP00000281815:N129Y	ENSP00000281815:N129Y	N	+	1	0	NBPF9	143539902	0.002000	0.14202	0.001000	0.08648	0.007000	0.05969	-0.395000	0.07287	-0.516000	0.06470	0.163000	0.16589	AAC		0.453	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		8	866	0	0	0	1	0	8	866					T	144828545	A	T	144828545	3	4	122	1	0	0	0	0	1	0	0	0	10241	130	5	5	2666	5	NBPF9	1	144828545	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	3129	144828545	104422076	8	38079											
ANKRD35	148741	broad.mit.edu	37	chr1	145567068	145567068	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagagatcatctccacctaCaggaatcatctactgaatgc	7	11	4	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:145567068C>T	ENST00000355594.4	+	12	3003	c.2916C>T	c.(2914-2916)taC>taT	p.Y972Y		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	972										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)					TCTCCACCTACAGGAATCATC	0.478																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				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						c.(2914-2916)taC>taT		ankyrin repeat domain 35							174	160	164					1																	145567068		2203	4300	6503	SO:0001819	synonymous_variant	148741							g.chr1:145567068C>T	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.2916C>T	1.37:g.145567068C>T							p.Y972Y	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN			12	3003	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		972					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	ENST00000355594.4	37	c.2916C>T	CCDS919.1																																																																																				0.478	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		23	437	0	0	0	1	0	23	437					T	145567068	C	T	145567068	2	4	122	1	0	0	0	0	0	0	0	1	664	489	17	2		2	ANKRD35	1	145567068	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	738523	145567068	103683553	9	38080											
CD1D	912	broad.mit.edu	37	chr1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtcctggccctggccGtctgctgctggtgtgccatg	13	16	1	0	rs199860570		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	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)					GGCCCTGGCCGTCTGCTGCTG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17566	0.001		0.0	False		,,,				2504	0.0					ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(655-657)cGt>cAt		CD1d molecule							85	85	85					1																	158152716		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152716G>A	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.656G>A	1.37:g.158152716G>A	ENSP00000357153:p.Arg219His						p.R219H	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1155	+	all_hematologic(112;0.0378)		219			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.656G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606585	0.28623	.	.	ENSG00000158473	ENST00000368171	T	0.13901	2.55	5.18	-0.738	0.11125	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.528179	0.17322	N	0.178449	T	0.01592	0.0051	N	0.13043	0.29	0.26068	N	0.981252	B	0.21688	0.059	B	0.14578	0.011	T	0.46527	-0.9185	10	0.19147	T	0.46	-1.3462	4.2679	0.10771	0.4919:0.1772:0.3308:0.0	.	219	P15813	CD1D_HUMAN	H	219	ENSP00000357153:R219H	ENSP00000357153:R219H	R	+	2	0	CD1D	156419340	0.000000	0.05858	0.998000	0.56505	0.830000	0.47004	-1.412000	0.02476	0.204000	0.20548	-0.751000	0.03497	CGT		0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		29	474	0	0	0	1	0	29	474					A	158152716	G	A	158152716	3	1	122	1	0	0	0	0	1	0	0	0	2986	1145	40	1	670	1	CD1D	1	158152716	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	12585648	158152716	91097905	10	38081											
PAPPA2	60676	broad.mit.edu	37	chr1	176526097	176526097	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgggcagggagactcCggtatctcttcacatttcca	11	10	2	2	rs371392086		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	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	0.0008	0.0	5008	,	,		14145	0.0		0.0	False		,,,				2504	0.0					ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(637-639)tcC>tcT		pappalysin 2		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	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526097C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.639C>T	1.37:g.176526097C>T						PAPPA2_ENST00000367661.3_Silent_p.S213S	p.S213S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1803	+			213					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.639C>T	CCDS41438.1																																																																																				0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			6	402	0	0	0	1	0	6	402					T	176526097	C	T	176526097	2	4	122	1	0	0	0	0	0	0	0	1	11475	639	23	1		1	PAPPA2	1	176526097	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	18373381	176526097	72724524	11	38082											
ZC3H11A	9877	broad.mit.edu	37	chr1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatgattttgagaaactaaTatgggagatttcaggaggca	13	3	1	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aTa>aCa		zinc finger CCCH-type containing 11A							55	56	56					1																	203821424		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821424T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr					ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T	p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6157	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2330T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		4	295	0	0	0	1	0	4	295					C	203821424	T	C	203821424	3	2	122	1	0	0	0	0	1	0	0	0	17613	1406	49	4	2392	4	ZC3H11A	1	203821424	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	27295327	203821424	45429197	12	38083											
ETNK2	55224	broad.mit.edu	37	chr1	204115868	204115868	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ttggcgtggatagtatgaatCtttgccatttctaaggcgat	11	6	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:204115868C>G	ENST00000367202.4	-	3	693	c.543G>C	c.(541-543)aaG>aaC	p.K181N	ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N|ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	181					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TAGTATGAATCTTTGCCATTT	0.507																																						ENST00000367202.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7						c.(541-543)aaG>aaC		ethanolamine kinase 2							139	119	126					1																	204115868		2203	4300	6503	SO:0001583	missense	55224						ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr1:204115868C>G	AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.543G>C	1.37:g.204115868C>G	ENSP00000356170:p.Lys181Asn					ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N|ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N|ETNK2_ENST00000367199.2_Intron	p.K181N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		3	693	-	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		181					B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	ENST00000367202.4	37	c.543G>C	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434087	0.62955	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.34	3.33	0.38152	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.225367	0.44902	D	0.000408	T	0.68238	0.2979	M	0.79926	2.475	0.36731	D	0.881739	P;D	0.56035	0.792;0.974	P;P	0.56343	0.542;0.796	T	0.75184	-0.3407	10	0.54805	T	0.06	-18.004	8.4404	0.32812	0.0:0.7574:0.0:0.2426	.	181;181	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	N	181;181;47;3;47;38	ENSP00000356169:K181N;ENSP00000356170:K181N;ENSP00000356166:K3N;ENSP00000405497:K47N;ENSP00000398091:K38N	ENSP00000356166:K3N	K	-	3	2	ETNK2	202382491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.667000	0.25112	1.489000	0.48450	0.655000	0.94253	AAG		0.507	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	NM_018208		5	202	0	0	0	1	0	5	202					G	204115868	C	G	204115868	3	3	122	1	0	0	0	0	1	0	0	0	5292	912	32	5	641	5	ETNK2	1	204115868	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	294444	204115868	45134753	13	38084											
RYR2	6262	broad.mit.edu	37	chr1	237969517	237969517	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttttttgccgctcaccttctCgacattgctatgggattcaa	7	11	3	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:237969517C>T	ENST00000366574.2	+	99	14549	c.14232C>T	c.(14230-14232)ctC>ctT	p.L4744L	RYR2_ENST00000542537.1_Silent_p.L4728L|RYR2_ENST00000360064.6_Silent_p.L4750L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4744					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)			CTCACCTTCTCGACATTGCTA	0.408																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14230-14232)ctC>ctT		ryanodine receptor 2 (cardiac)							200	179	186					1																	237969517		1894	4112	6006	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969517C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14232C>T	1.37:g.237969517C>T						RYR2_ENST00000542537.1_Silent_p.L4728L|RYR2_ENST00000360064.6_Silent_p.L4750L	p.L4744L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14549	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4744					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.14232C>T	CCDS55691.1																																																																																				0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	254	0	0	0	1	0	7	254					T	237969517	C	T	237969517	2	4	122	1	0	0	0	0	0	0	0	1	13819	871	31	1		1	RYR2	1	237969517	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	33853649	237969517	11281104	14	38085											
OR2W5	441932	broad.mit.edu	37	chr1	247655131	247655131	+	RNA	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gatgaagtcagcagcagggcGaaagaaagccttccacacct	11	11	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:247655131G>A	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																																						ENST00000522351.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39															135	123	127					1																	247655131		2203	4300	6503			0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655131G>A			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>A										A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		0	762	+	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)						B9EH85	RNA	SNP	ENST00000522351.1	37																																																																																						0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		21	498	0	0	0	1	0	21	498					A	247655131	G	A	247655131	1	1	122	0	1	0	0	0	0	0	0	0	11076	1045	37	1		1	OR2W5	1	247655131	RNA	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	9685614	247655131	1595490	15	38086											
GREB1	9687	broad.mit.edu	37	chr2	11773143	11773143	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatctctgatgactcctgcGtgatgtggaacgtggtggat	14	7	1	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:11773143G>A	ENST00000381486.2	+	28	5245	c.4945G>A	c.(4945-4947)Gtg>Atg	p.V1649M	GREB1_ENST00000396123.1_Missense_Mutation_p.V647M|GREB1_ENST00000234142.5_Missense_Mutation_p.V1649M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1649						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)		TGACTCCTGCGTGATGTGGAA	0.562																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(4945-4947)Gtg>Atg		growth regulation by estrogen in breast cancer 1							133	143	139					2																	11773143		2148	4247	6395	SO:0001583	missense	9687					integral to membrane		g.chr2:11773143G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4945G>A	2.37:g.11773143G>A	ENSP00000370896:p.Val1649Met					GREB1_ENST00000396123.1_Missense_Mutation_p.V647M|GREB1_ENST00000234142.5_Missense_Mutation_p.V1649M	p.V1649M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	28	5245	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1649					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4945G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775048	0.90108	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.59364	0.27;0.27;0.27	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.73962	2.25	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.77349	-0.2621	10	0.87932	D	0	-29.7818	19.1501	0.93485	0.0:0.0:1.0:0.0	.	1649	Q4ZG55	GREB1_HUMAN	M	1649;1649;647	ENSP00000370896:V1649M;ENSP00000234142:V1649M;ENSP00000379429:V647M	ENSP00000234142:V1649M	V	+	1	0	GREB1	11690594	1.000000	0.71417	0.998000	0.56505	0.825000	0.46686	9.254000	0.95512	2.517000	0.84864	0.557000	0.71058	GTG		0.562	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		7	391	0	0	0	1	0	7	391					A	11773143	G	A	11773143	3	1	122	1	0	0	0	0	1	0	0	0	6790	1145	40	1	5159	1	GREB1	2	11773143	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		11773143	231426230	16	38087											
SEMA4F	10505	broad.mit.edu	37	chr2	74902760	74902760	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacatgaaattgtaccAcgtgagttgtagattttgga	11	4	0	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:74902760A>T	ENST00000357877.2	+	11	1630	c.1481A>T	c.(1480-1482)cAc>cTc	p.H494L	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.H339L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	494	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						AAATTGTACCACGTGAGTTGT	0.527																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.e11+1		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F							97	86	90					2																	74902760		2203	4300	6503	SO:0001630	splice_region_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74902760A>T	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.1482+1A>T	2.37:g.74902760A>T						SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.H339_splice	p.H494_splice	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN			11	1630	+			494			Sema.		Q542Y7|Q9NS35	Splice_Site	SNP	ENST00000357877.2	37	c.1482_splice	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364109	0.24684	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.27890	1.64;1.64	4.5	4.5	0.54988	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.533387	0.17354	N	0.177292	T	0.27866	0.0686	L	0.42245	1.32	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.08806	-1.0704	10	0.72032	D	0.01	.	11.8227	0.52247	1.0:0.0:0.0:0.0	.	339;494	O95754-2;O95754	.;SEM4F_HUMAN	L	494;339	ENSP00000350547:H494L;ENSP00000342675:H339L	ENSP00000342675:H339L	H	+	2	0	SEMA4F	74756268	0.008000	0.16893	0.607000	0.28956	0.563000	0.35712	1.556000	0.36288	1.892000	0.54788	0.383000	0.25322	CAC		0.527	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263	Missense_Mutation	8	257	0	0	0	1	0	8	257					T	74902760	A	T	74902760	5	4	122	1	0	0	0	0	0	0	1	0	14085	173	6	5	1523	5	SEMA4F	2	74902760	Splice_Site	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	63129617	74902760	168296613	17	38088											
ARHGAP15	55843	broad.mit.edu	37	chr2	144525606	144525606	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgtccacgcaaagcttgggGattgtatttggacctaccct	10	10	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:144525606G>T	ENST00000295095.6	+	14	1460	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	431	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)		AAAGCTTGGGGATTGTATTTG	0.453																																						ENST00000295095.6																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1291-1293)ggG>ggT		Rho GTPase activating protein 15							132	128	130					2																	144525606		2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144525606G>T	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.1293G>T	2.37:g.144525606G>T						CTD-2252P21.1_ENST00000548756.1_RNA	p.G431G	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	14	1460	+			431			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1293G>T	CCDS2184.1																																																																																				0.453	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		20	549	1	0	2.4624e-09	1	2.80204e-09	20	549					T	144525606	G	T	144525606	2	4	122	1	0	0	0	0	0	0	0	1	866	1161	41	3		3	ARHGAP15	2	144525606	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	69622846	144525606	98673767	18	38089											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702250	187702250	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	attagctaagatcttcatgcAttttatatgaatactattgc	5	6	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:187702250A>T	ENST00000295131.2	-	5	565	c.526T>A	c.(526-528)Tgc>Agc	p.C176S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	176					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATCTTCATGCATTTTATATGA	0.318																																						ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(526-528)Tgc>Agc		zinc finger, SWIM-type containing 2							66	68	67					2																	187702250		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187702250A>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.526T>A	2.37:g.187702250A>T	ENSP00000295131:p.Cys176Ser						p.C176S	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		5	565	-			176					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.526T>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228314	0.79576	.	.	ENSG00000163012	ENST00000295131	D	0.99701	-6.45	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000014	D	0.99729	0.9894	M	0.90542	3.125	0.51233	D	0.999915	D	0.89917	1.0	D	0.85130	0.997	D	0.97371	0.9976	10	0.87932	D	0	-6.639	13.9615	0.64182	1.0:0.0:0.0:0.0	.	176	Q8NEG5	ZSWM2_HUMAN	S	176	ENSP00000295131:C176S	ENSP00000295131:C176S	C	-	1	0	ZSWIM2	187410495	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.756000	0.74919	2.287000	0.76781	0.482000	0.46254	TGC		0.318	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		9	277	0	0	0	1	0	9	277					T	187702250	A	T	187702250	3	4	122	1	0	0	0	0	1	0	0	0	18294	217	8	5	1395	5	ZSWIM2	2	187702250	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	43176644	187702250	55497123	19	38090											
TRIP12	9320	broad.mit.edu	37	chr2	230643255	230643255	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctaccaaagggaagcGcaaacaggccctggaggttt	12	11	0	0	rs376235388		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:230643255G>A	ENST00000283943.5	-	35	5211	c.5033C>T	c.(5032-5034)gCg>gTg	p.A1678V	TRIP12_ENST00000389045.3_Missense_Mutation_p.A1408V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1726V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1678					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)		AAAGGGAAGCGCAAACAGGCC	0.428																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(5032-5034)gCg>gTg		thyroid hormone receptor interactor 12		G	VAL/ALA	0,4406		0,0,2203	128	126	127		5033	4.2	0.9	2		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP12	NM_004238.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1678/1993	230643255	1,13005	2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230643255G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5033C>T	2.37:g.230643255G>A	ENSP00000283943:p.Ala1678Val					TRIP12_ENST00000389044.4_Missense_Mutation_p.A1726V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A1408V	p.A1678V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	35	5211	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1678					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.5033C>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749186	0.89753	0.0	1.16E-4	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.57595	0.39;0.39;0.39	5.94	4.15	0.48705	HECT (4);	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.28400	0.85	0.80722	D	1	B;B;B	0.16603	0.018;0.007;0.007	B;B;B	0.12837	0.008;0.008;0.008	T	0.29549	-1.0008	10	0.87932	D	0	.	12.7208	0.57142	0.1333:0.0:0.8667:0.0	.	1408;1726;1678	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1678;1408;1726	ENSP00000283943:A1678V;ENSP00000373697:A1408V;ENSP00000373696:A1726V	ENSP00000283943:A1678V	A	-	2	0	TRIP12	230351499	1.000000	0.71417	0.944000	0.38274	0.986000	0.74619	9.355000	0.97087	0.845000	0.35118	0.591000	0.81541	GCG		0.428	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		5	485	0	0	0	1	0	5	485					A	230643255	G	A	230643255	3	1	122	1	0	0	0	0	1	0	0	0	16609	1087	38	1	973	1	TRIP12	2	230643255	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	42941005	230643255	12556118	20	38091											
ITPR1	3708	broad.mit.edu	37	chr3	4744532	4744532	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	agactcgccagcctgtctttGtgcaactgctgcaaggcgtg	12	12	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:4744532G>T	ENST00000443694.2	+	33	4510	c.4510G>T	c.(4510-4512)Gtg>Ttg	p.V1504L	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V1519L|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1504L|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1510L|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L|ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1519					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)	GCCTGTCTTTGTGCAACTGCT	0.473																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4510-4512)Gtg>Ttg		inositol 1,4,5-trisphosphate receptor, type 1							63	65	64					3																	4744532		1988	4167	6155	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4744532G>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4510G>T	3.37:g.4744532G>T	ENSP00000401671:p.Val1504Leu					ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L|ITPR1_ENST00000443694.2_Missense_Mutation_p.V1504L|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1510L|ITPR1_ENST00000354582.6_Missense_Mutation_p.V1519L	p.V1504L	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	35	4860	+			1519					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.4510G>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429619	0.83776	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.85542	2.76	0.80722	D	1	B;P	0.35700	0.193;0.516	B;B	0.34652	0.126;0.187	T	0.75408	-0.3328	10	0.28530	T	0.3	.	18.3935	0.90491	0.0:0.0:1.0:0.0	.	1519;1510	Q14643;G5E9P1	ITPR1_HUMAN;.	L	1519;1504;1519;1510;1510;1495;1504	ENSP00000306253:V1504L;ENSP00000346595:V1519L;ENSP00000405934:V1510L;ENSP00000349597:V1510L;ENSP00000397885:V1495L;ENSP00000401671:V1504L	ENSP00000306253:V1504L	V	+	1	0	ITPR1	4719532	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.768000	0.98965	2.320000	0.78422	0.563000	0.77884	GTG		0.473	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		7	134	1	0	5.18039e-06	1	5.62345e-06	7	134					T	4744532	G	T	4744532	3	4	122	1	0	0	0	0	1	0	0	0	7950	1377	48	3	4689	3	ITPR1	3	4744532	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		4744532	193277898	21	38092											
NCKIPSD	51517	broad.mit.edu	37	chr3	48716527	48716527	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agccagaagcaggttcacgcAgaggtccggcagctgctctg	14	12	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:48716527A>T	ENST00000294129.2	-	10	1779	c.1660T>A	c.(1660-1662)Tgc>Agc	p.C554S	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	554	Leu-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTTCACGCAGAGGTCCGGC	0.652																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1660-1662)Tgc>Agc		NCK interacting protein with SH3 domain							54	57	56					3																	48716527		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716527A>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1660T>A	3.37:g.48716527A>T	ENSP00000294129:p.Cys554Ser					NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S	p.C554S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	10	1779	-			554			Leu-rich.		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1660T>A	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.504546|4.504546	0.85176|0.85176	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374|ENST00000415281	T;T;T;T|T	0.65549|0.58797	1.04;-0.16;-0.16;1.04|0.31	5.37|5.37	5.37|5.37	0.77165|0.77165	Domain of unknown function DUF2013 (1);|.	0.062767|.	0.64402|.	U|.	0.000005|.	T|T	0.58452|0.58452	0.2123|0.2123	L|L	0.29908|0.29908	0.895|0.895	0.37845|0.37845	D|D	0.929171|0.929171	P;P|.	0.52316|.	0.952;0.94|.	P;P|.	0.50270|.	0.636;0.503|.	T|T	0.67007|0.67007	-0.5779|-0.5779	10|7	0.44086|0.87932	T|D	0.13|0	.|.	15.3635|15.3635	0.74499|0.74499	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	554;547|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	S|Q	554;547;554;10|262	ENSP00000342621:C554S;ENSP00000389059:C547S;ENSP00000294129:C554S;ENSP00000396683:C10S|ENSP00000406442:L262Q	ENSP00000294129:C554S|ENSP00000406442:L262Q	C|L	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48691531|48691531	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.952000|0.952000	0.60782|0.60782	8.804000|8.804000	0.91921|0.91921	2.020000|2.020000	0.59435|0.59435	0.528000|0.528000	0.53228|0.53228	TGC|CTG		0.652	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		11	197	0	0	0	1	0	11	197					T	48716527	A	T	48716527	3	4	122	1	0	0	0	0	1	0	0	0	10267	188	7	5	524	5	NCKIPSD	3	48716527	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	43971995	48716527	149305903	22	38093											
RNF13	11342	broad.mit.edu	37	chr3	149570341	149570341	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tctcagacatttgatgacctCcctgcaagatttggttatag	8	9	1	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:149570341C>T	ENST00000344229.3	+	4	855	c.153C>T	c.(151-153)ctC>ctT	p.L51L	RNF13_ENST00000392894.3_Silent_p.L51L|ANKUB1_ENST00000473672.1_5'Flank	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	51					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGATGACCTCCCTGCAAGAT	0.274																																						ENST00000344229.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11						c.(151-153)ctC>ctT		ring finger protein 13							63	62	62					3																	149570341		2203	4295	6498	SO:0001819	synonymous_variant	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149570341C>T	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"RING-type (C3HC4) zinc fingers"	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.153C>T	3.37:g.149570341C>T						RNF13_ENST00000392894.3_Silent_p.L51L	p.L51L	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		4	855	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	51					A6NC87|B3KR12|Q05D66|Q6IBJ9	Silent	SNP	ENST00000344229.3	37	c.153C>T	CCDS3146.1																																																																																				0.274	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		13	205	0	0	0	1	0	13	205					T	149570341	C	T	149570341	2	4	122	1	0	0	0	0	0	0	0	1	13487	842	30	2		2	RNF13	3	149570341	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	100853814	149570341	48452089	23	38094											
FAM194A	131831	broad.mit.edu	37	chr3	150421561	150421561	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcttcctcctcctccTccacctcttcctcctcctcc	0	26	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:150421561T>A	ENST00000295910.6	-	1	177	c.125A>T	c.(124-126)gAg>gTg	p.E42V	RP11-103G8.2_ENST00000471093.1_RNA|RP11-103G8.2_ENST00000475393.1_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						ctcctcctcctccacctcttc	0.617																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(124-126)gAg>gTg		family with sequence similarity 194, member A							104	86	92					3																	150421561		2203	4299	6502	SO:0001583	missense	131831							g.chr3:150421561T>A																												ENST00000295910.6:c.125A>T	3.37:g.150421561T>A	ENSP00000295910:p.Glu42Val					RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	p.E42V	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			1	177	-			42			Glu-rich.			Missense_Mutation	SNP	ENST00000295910.6	37	c.125A>T	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	T	9.529	1.110446	0.20714	.	.	ENSG00000163645	ENST00000295910;ENST00000474463	T;T	0.59638	2.52;0.25	3.07	0.4	0.16331	.	1.005970	0.08015	N	0.991085	T	0.35711	0.0941	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.27872	-1.0061	10	0.72032	D	0.01	.	7.2044	0.25899	0.3903:0.0:0.0:0.6097	.	42	Q7L0X2	F194A_HUMAN	V	42	ENSP00000295910:E42V;ENSP00000419304:E42V	ENSP00000295910:E42V	E	-	2	0	FAM194A	151904251	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.537000	0.00939	-0.189000	0.10482	-1.827000	0.00596	GAG		0.617	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			4	62	0	0	0	1	0	4	62					A	150421561	T	A	150421561	3	1	122	1	0	0	0	0	1	0	0	0	5547	1551	54	5	1922	5	FAM194A	3	150421561	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	851220	150421561	47600869	24	38095											
ATP13A3	79572	broad.mit.edu	37	chr3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-													cgccactcaggcatccaataGaggaggaggaggagaaaccc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						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)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	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.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		8	557						8	557	---	---	---	---	-	194181473	GAG	-	194181471	7	5	122	1	0	1	0	1	0	0	0	0	1126	929	33	0	3659	0	ATP13A3	3	194181471	In_Frame_Del	DEL	GAG	TCGA-XN-A8T5-01A-12D-A36O-08	43759910	194181471	3840959	25	38096											
ANK2	287	broad.mit.edu	37	chr4	114203916	114203916	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaactatggagcagagacaaAcattgtgacaaagcaaggag	12	6	0	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr4:114203916A>T	ENST00000357077.4	+	18	2020	c.1967A>T	c.(1966-1968)aAc>aTc	p.N656I	ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000264366.6_Missense_Mutation_p.N656I|ANK2_ENST00000506722.1_Missense_Mutation_p.N635I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	656					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)		GCAGAGACAAACATTGTGACA	0.448																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1966-1968)aAc>aTc		ankyrin 2, neuronal							131	105	114					4																	114203916		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114203916A>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1967A>T	4.37:g.114203916A>T	ENSP00000349588:p.Asn656Ile					ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000264366.6_Missense_Mutation_p.N656I|ANK2_ENST00000506722.1_Missense_Mutation_p.N635I	p.N656I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	18	2020	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	656					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1967A>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654034	0.88056	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71461	-0.57;2.06;-0.57;-0.57;-0.57;-0.57;-0.57	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.099795	0.43579	D	0.000555	D	0.85435	0.5696	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.76494	0.996;0.999;0.995;0.989;0.857	D;D;D;D;P	0.69824	0.964;0.966;0.939;0.917;0.66	D	0.88380	0.3001	10	0.87932	D	0	.	15.2245	0.73339	1.0:0.0:0.0:0.0	.	656;656;656;635;635	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	I	635;602;635;671;656;656;656;635	ENSP00000423799:N635I;ENSP00000421011:N602I;ENSP00000421067:N635I;ENSP00000424722:N671I;ENSP00000378044:N656I;ENSP00000349588:N656I;ENSP00000264366:N656I	ENSP00000264366:N656I	N	+	2	0	ANK2	114423365	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.405000	0.80007	2.031000	0.59945	0.533000	0.62120	AAC		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	203	0	0	0	1	0	7	203					T	114203916	A	T	114203916	3	4	122	1	0	0	0	0	1	0	0	0	621	43	2	5	2062	5	ANK2	4	114203916	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08		114203916	76950360	26	38097											
MAML3	55534	broad.mit.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-													ctggagctgtggaggtggcgGctgctgctgctgctgctgct					rs372496848		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	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)					GGAGGTGGCGgctgctgctgctg	0.586																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1948-1953)ccg>c		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140810639_140810641delGCT	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.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del					MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	p.QP650del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2805_2807	-	all_hematologic(180;0.162)		646			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1949_1951delAGC	CCDS54805.1																																																																																				0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			8	295						8	295	---	---	---	---	-	140810641	GCT	-	140810639	7	5	122	1	0	1	0	1	0	0	0	0	9248	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-XN-A8T5-01A-12D-A36O-08	26606723	140810639	50343637	27	38098											
CAPSL	133690	broad.mit.edu	37	chr5	35910614	35910614	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ttctttaaaatcaagggttcGattattatcgtcatccataa	5	7	3	0	rs202156612	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:35910614G>A	ENST00000397367.2	-	3	295	c.169C>T	c.(169-171)Cga>Tga	p.R57*	CAPSL_ENST00000514524.1_Nonsense_Mutation_p.R57*|CAPSL_ENST00000397366.1_Nonsense_Mutation_p.R57*	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R57*(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAAGGGTTCGATTATTATCG	0.308																																						ENST00000397367.2																			1	Substitution - Nonsense(1)	p.R57*(1)	large_intestine(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19						c.(169-171)Cga>Tga		calcyphosine-like							56	58	57					5																	35910614		2201	4300	6501	SO:0001587	stop_gained	133690					cytoplasm	calcium ion binding	g.chr5:35910614G>A	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"EF-hand domain containing"	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.169C>T	5.37:g.35910614G>A	ENSP00000380524:p.Arg57*					CAPSL_ENST00000397366.1_Nonsense_Mutation_p.R57*|CAPSL_ENST00000514524.1_Nonsense_Mutation_p.R57*	p.R57*	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)		3	295	-	all_lung(31;0.000268)		57			EF-hand 1.			Nonsense_Mutation	SNP	ENST00000397367.2	37	c.169C>T	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887612	0.52014	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	.	.	.	5.26	0.895	0.19247	.	0.111607	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-8.7212	14.2359	0.65927	0.0:0.0:0.3558:0.6442	.	.	.	.	X	57	.	ENSP00000380523:R57X	R	-	1	2	CAPSL	35946371	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	2.352000	0.44080	0.568000	0.29311	0.407000	0.27541	CGA		0.308	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		5	359	0	0	0	1	0	5	359					A	35910614	G	A	35910614	4	1	122	1	0	0	0	0	0	1	0	0	2646	1066	37	1	469	1	CAPSL	5	35910614	Nonsense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		35910614	145004646	28	38099											
BDP1	55814	broad.mit.edu	37	chr5	70805902	70805902	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaaaaatatccccaAgggaaaatggcccagaggag	12	7	0	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:70805902A>C	ENST00000358731.4	+	17	3246	c.2983A>C	c.(2983-2985)Agg>Cgg	p.R995R	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	995	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATATCCCCAAGGGAAAATGG	0.458																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2983-2985)Agg>Cgg		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							69	71	70					5																	70805902		1825	4077	5902	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70805902A>C	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.2983A>C	5.37:g.70805902A>C						BDP1_ENST00000380675.2_5'UTR	p.R995R	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3246	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	995			9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.2983A>C	CCDS43328.1																																																																																				0.458	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		19	400	0	0	0	1	0	19	400					C	70805902	A	C	70805902	2	2	122	1	0	0	0	0	0	0	0	1	1396	63	3	4		4	BDP1	5	70805902	Silent	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	34895288	70805902	110109358	29	38100											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793016	140793016	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcttgatcaccgcgGgcaggatagaccgggaggag	18	10	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:140793016G>A	ENST00000398610.2	+	1	274	c.274G>A	c.(274-276)Ggc>Agc	p.G92S	PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_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|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCACCGCGGGCAGGATAGA	0.602																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(274-276)Ggc>Agc									60	76	71					5																	140793016		2144	4281	6425	SO:0001583	missense	0							g.chr5:140793016G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.274G>A	5.37:g.140793016G>A	ENSP00000381611:p.Gly92Ser					PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.G92S	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	274	+								Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.274G>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	17.15	3.315265	0.60524	.	.	ENSG00000253846	ENST00000398610	T	0.26660	1.72	5.89	5.89	0.94794	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.30230	0.0758	L	0.49350	1.555	0.37881	D	0.930382	B;B	0.26876	0.162;0.056	B;B	0.30401	0.115;0.082	T	0.07520	-1.0768	9	0.27785	T	0.31	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	S	92	ENSP00000381611:G92S	ENSP00000381611:G92S	G	+	1	0	PCDHGA10	140773200	0.991000	0.36638	1.000000	0.80357	0.836000	0.47400	4.921000	0.63397	2.788000	0.95919	0.557000	0.71058	GGC		0.602	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		13	614	0	0	0	1	0	13	614					A	140793016	G	A	140793016	3	1	122	1	0	0	0	0	1	0	0	0	11593	1232	43	2	276	2	PCDHGA10	5	140793016	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	69987114	140793016	40122244	30	38101											
PANK3	79646	broad.mit.edu	37	chr5	167995848	167995848	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtacatcccgaatgcCggtggatccatatgccacgt	11	11	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:167995848C>T	ENST00000239231.6	-	2	500	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	62					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)		TCCCGAATGCCGGTGGATCCA	0.418																																						ENST00000239231.6																			0				NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(184-186)Ggc>Agc		pantothenate kinase 3							144	138	140					5																	167995848		2203	4300	6503	SO:0001583	missense	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167995848C>T	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.184G>A	5.37:g.167995848C>T	ENSP00000239231:p.Gly62Ser						p.G62S	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	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)	2	500	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	62					D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	ENST00000239231.6	37	c.184G>A	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205975	0.95033	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.98419	-4.92;-4.92	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.46703	T	0.11	-14.8448	19.0666	0.93114	0.0:1.0:0.0:0.0	.	62	Q9H999	PANK3_HUMAN	S	62;47	ENSP00000239231:G62S;ENSP00000428631:G47S	ENSP00000239231:G62S	G	-	1	0	PANK3	167928426	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GGC		0.418	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	NM_024594		33	618	0	0	0	1	0	33	618					T	167995848	C	T	167995848	3	4	122	1	0	0	0	0	1	0	0	0	11460	652	23	1	952	1	PANK3	5	167995848	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	27202832	167995848	12919412	31	38102											
RPL26L1	51121	broad.mit.edu	37	chr5	172386920	172386920	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcggaccgcagtaaaaaccGcaaacgtcacttcaatgccc	7	15	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:172386920G>T	ENST00000521476.1	+	2	168	c.44G>T	c.(43-45)cGc>cTc	p.R15L	CTC-308K20.1_ENST00000520067.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.2_ENST00000519755.1_lincRNA|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	15					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTAAAAACCGCAAACGTCAC	0.562																																						ENST00000521476.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(43-45)cGc>cTc		ribosomal protein L26-like 1							221	190	200					5																	172386920		2203	4300	6503	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172386920G>T	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"L ribosomal proteins"	17050	protein-coding gene	gene with protein product			"ribosomal protein L26 pseudogene 1"	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.44G>T	5.37:g.172386920G>T	ENSP00000428223:p.Arg15Leu					RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L	p.R15L			Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	168	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	15					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.44G>T	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634145	0.96682	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519522;ENST00000519156	.	.	.	4.75	3.85	0.44370	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	H	0.94462	3.54	0.80722	D	1	P	0.48694	0.914	P	0.58721	0.844	D	0.88380	0.3001	9	0.87932	D	0	.	13.8993	0.63792	0.0:0.0:0.8418:0.1582	.	15	Q9UNX3	RL26L_HUMAN	L	15	.	ENSP00000265100:R15L	R	+	2	0	RPL26L1	172319526	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.313000	0.78978	1.168000	0.42723	0.549000	0.68633	CGC		0.562	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		13	753	1	0	1.5842e-08	1	1.77818e-08	13	753					T	172386920	G	T	172386920	3	4	122	1	0	0	0	0	1	0	0	0	13624	1087	38	3	46	3	RPL26L1	5	172386920	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	4391072	172386920	8528340	32	38103											
RREB1	6239	broad.mit.edu	37	chr6	7226828	7226829	+	Frame_Shift_Ins	INS	-	-	TG													aacaacccttcaattcctgcINStggcttccacgacttaggat							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:7226828_7226829insTG	ENST00000349384.6	+	9	1150_1151	c.836_837insTG	c.(835-840)gctggcfs	p.G280fs	RREB1_ENST00000334984.6_Frame_Shift_Ins_p.G280fs|RREB1_ENST00000379938.2_Frame_Shift_Ins_p.G280fs|RREB1_ENST00000379933.3_Frame_Shift_Ins_p.G280fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	280					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCAATTCCTGCTGGCTTCCACG	0.505																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(835-837)gggfs		ras responsive element binding protein 1																																				SO:0001589	frameshift_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7226828_7226829insTG	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.837_838dupTG	6.37:g.7226829_7226830dupTG	ENSP00000305560:p.Gly280fs					RREB1_ENST00000349384.6_Frame_Shift_Ins_p.G279fs|RREB1_ENST00000334984.6_Frame_Shift_Ins_p.G279fs|RREB1_ENST00000379933.3_Frame_Shift_Ins_p.G279fs	p.G279fs	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			9	1373_1374	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	279					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Ins	INS	ENST00000349384.6	37	c.836_837insTG	CCDS34336.1																																																																																				0.505	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			25	579						25	579	---	---	---	---	TG	7226829	-	TG	7226828	7	5	122	1	0	1	1	0	0	0	0	0	13729	797	28	0	858	0	RREB1	6	7226828	Frame_Shift_Ins	INS	-	TCGA-XN-A8T5-01A-12D-A36O-08		7226828	163888239	33	38104											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839811	27839811	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	caggtaggcctcgcaagcctCctgcagcgccatcaccgccg	11	18	1	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:27839811C>T	ENST00000328488.2	-	1	288	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	95					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)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCGCAAGCCTCCTGCAGCGCC	0.562																																						ENST00000328488.2																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(283-285)Gag>Aag		histone cluster 1, H3i							86	92	90					6																	27839811		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839811C>T	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.283G>A	6.37:g.27839811C>T	ENSP00000329554:p.Glu95Lys						p.E95K	NM_003533.2	NP_003524.1	P68431	H31_HUMAN			1	288	-			95					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.283G>A	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104290	0.76983	.	.	ENSG00000182572	ENST00000328488	T	0.70749	-0.51	4.12	4.12	0.48240	.	.	.	.	.	T	0.78220	0.4249	.	.	.	0.45150	D	0.998168	.	.	.	.	.	.	T	0.81304	-0.0993	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	K	95	ENSP00000329554:E95K	ENSP00000329554:E95K	E	-	1	0	HIST1H3I	27947790	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG		0.562	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		13	580	0	0	0	1	0	13	580					T	27839811	C	T	27839811	3	4	122	1	0	0	0	0	1	0	0	0	7193	864	30	2	131	2	HIST1H3I	6	27839811	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	20612983	27839811	143275256	34	38105											
GABBR1	2550	broad.mit.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-													tcataagcaaggaagattccCagcagcagcagcagcccctt					rs368201041		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					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)	p.L783M(1)		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)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	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						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	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.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			10	487						10	487	---	---	---	---	-	29573438	CAG	-	29573436	7	5	122	1	0	1	0	1	0	0	0	0	6182	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-XN-A8T5-01A-12D-A36O-08	1733625	29573436	141541631	35	38106											
MUC21	394263	broad.mit.edu	37	chr6	30954263	30954263	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtgtccagtgggatcagcaTagccaccaactctgagtcca	10	12	2	1	rs200529075|rs140684982		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:30954263T>C	ENST00000376296.3	+	2	552	c.311T>C	c.(310-312)aTa>aCa	p.I104T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	104	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGGATCAGCATAGCCACCAAC	0.582																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(310-312)aTa>aCa		mucin 21, cell surface associated							219	191	200					6																	30954263		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954263T>C	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.311T>C	6.37:g.30954263T>C	ENSP00000365473:p.Ile104Thr					MUC21_ENST00000486149.2_5'UTR	p.I104T	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	552	+			104			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.311T>C	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.750553	0.00669	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.01145	5.27	2.6	1.67	0.24075	.	.	.	.	.	T	0.00178	0.0005	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13845	-1.0494	8	.	.	.	.	5.4043	0.16312	0.0:0.6629:0.2064:0.1307	.	104	Q5SSG8	MUC21_HUMAN	T	104	ENSP00000365473:I104T	.	I	+	2	0	MUC21	31062242	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-3.024000	0.00641	0.012000	0.14892	-0.330000	0.08379	ATA		0.582	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		11	724	0	0	0	1	0	11	724					C	30954263	T	C	30954263	3	2	122	1	0	0	0	0	1	0	0	0	10018	1406	49	4	317	4	MUC21	6	30954263	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	1380827	30954263	140160804	36	38107											
GRM4	2914	broad.mit.edu	37	chr6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcttgccctgctcgaagatgCggtagatgcggttggtcttg	15	9	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:34003851C>T	ENST00000538487.2	-	9	2479	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Missense_Mutation_p.R546H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	679					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCGAAGATGCGGTAGATGCG	0.627																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2035-2037)cGc>cAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						135	138	137					6																	34003851		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003851C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2036G>A	6.37:g.34003851C>T	ENSP00000440556:p.Arg679His					GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.1_Missense_Mutation_p.R510H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000545715.1_Missense_Mutation_p.R371H|GRM4_ENST00000538487.1_Missense_Mutation_p.R679H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H	p.R679H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2205	-			679					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2036G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725414	0.89298	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	M	0.92026	3.265	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	0.997;0.993;0.996;0.999;0.999	D	0.96098	0.9067	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	632;510;539;679;546	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	679;563;371;546;510;679;539	ENSP00000363296:R679H;ENSP00000363292:R563H;ENSP00000445533:R371H;ENSP00000437925:R546H;ENSP00000437730:R510H;ENSP00000440556:R679H;ENSP00000398456:R539H	ENSP00000363292:R563H	R	-	2	0	GRM4	34111829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	CGC		0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			5	522	0	0	0	1	0	5	522					T	34003851	C	T	34003851	3	4	122	1	0	0	0	0	1	0	0	0	6829	768	27	1	714	1	GRM4	6	34003851	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	3049588	34003851	137111216	37	38108											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A													tcttaactggtataatccagINSaaaaaaaaatgataagagct					rs145334816		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		11	352						11	352	---	---	---	---	A	46660415	-	A	46660414	7	5	122	1	0	1	1	0	0	0	0	0	15786	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-XN-A8T5-01A-12D-A36O-08	12656563	46660414	124454653	38	38109											
COL12A1	1303	broad.mit.edu	37	chr6	75884826	75884826	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaggctgtcacagataaggCgtattgtgtcccttccttca	9	11	2	1	rs568432319		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:75884826C>A	ENST00000322507.8	-	13	2947	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	COL12A1_ENST00000483888.2_Missense_Mutation_p.A880S|COL12A1_ENST00000416123.2_Missense_Mutation_p.A880S|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	880	Fibronectin type-III 5. {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						ACAGATAAGGCGTATTGTGTC	0.488																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2638-2640)Gcc>Tcc		collagen, type XII, alpha 1							255	252	253					6																	75884826		2018	4174	6192	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884826C>A	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.2638G>T	6.37:g.75884826C>A	ENSP00000325146:p.Ala880Ser					COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.A880S|COL12A1_ENST00000416123.2_Missense_Mutation_p.A880S	p.A880S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			13	2947	-			880			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2638G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	2.403	-0.337063	0.05278	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.55413	0.52;0.52;0.52	5.94	1.54	0.23209	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.364138	0.26262	N	0.025382	T	0.04634	0.0126	N	0.00683	-1.26	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45264	-0.9273	10	0.09338	T	0.73	.	6.377	0.21513	0.1909:0.5768:0.0:0.2323	.	880	Q99715	COCA1_HUMAN	S	880	ENSP00000325146:A880S;ENSP00000412864:A880S;ENSP00000421216:A880S	ENSP00000325146:A880S	A	-	1	0	COL12A1	75941546	0.123000	0.22298	0.345000	0.25642	0.519000	0.34347	0.857000	0.27831	0.338000	0.23692	0.557000	0.71058	GCC		0.488	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		6	751	1	0	0.248553	1	0.25632	6	751					A	75884826	C	A	75884826	3	1	122	1	0	0	0	0	1	0	0	0	3678	768	27	3	6769	3	COL12A1	6	75884826	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	29224412	75884826	95230241	39	38110											
PHACTR2	9749	broad.mit.edu	37	chr6	144081695	144081696	+	Frame_Shift_Ins	INS	-	-	A													gtgatgaagtgcctcccattINSaaaaaaaataccaaggctcc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:144081695_144081696insA	ENST00000427704.2	+	5	709_710	c.579_580insA	c.(580-582)aaafs	p.K194fs	PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.K205fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	194							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(577-582)ataaaafs		phosphatase and actin regulator 2																																				SO:0001589	frameshift_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144081695_144081696insA	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.587dupA	6.37:g.144081703_144081703dupA	ENSP00000391763:p.Lys194fs					PHACTR2_ENST00000305766.6_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.IK204fs|PHACTR2_ENST00000367584.4_Intron	p.IK193fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	5	709_710	+			193					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Ins	INS	ENST00000427704.2	37	c.579_580insA	CCDS47492.1																																																																																				0.569	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		8	389						8	389	---	---	---	---	A	144081696	-	A	144081695	7	5	122	1	0	1	1	0	0	0	0	0	11852	1742	61	0	647	0	PHACTR2	6	144081695	Frame_Shift_Ins	INS	-	TCGA-XN-A8T5-01A-12D-A36O-08	68196869	144081695	27033372	40	38111											
LATS1	9113	broad.mit.edu	37	chr6	150001515	150001515	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agacttgtccattttagcccTtttaagacggatgtaattag	8	7	0	2	rs200431329		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr6:150001515T>C	ENST00000543571.1	-	5	2636	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R697G	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)		ATTTTAGCCCTTTTAAGACGG	0.363																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(2089-2091)Agg>Ggg		large tumor suppressor kinase 1							94	101	98					6																	150001515		2202	4300	6502	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001515T>C	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.2089A>G	6.37:g.150001515T>C	ENSP00000437550:p.Arg697Gly					LATS1_ENST00000253339.5_Missense_Mutation_p.R697G|LATS1_ENST00000542747.1_5'UTR	p.R697G	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2636	-		Ovarian(120;0.0164)	697						Missense_Mutation	SNP	ENST00000543571.1	37	c.2089A>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909805	0.72983	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.68025	-0.3;-0.3	5.64	5.64	0.86602	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	T	0.70029	0.3177	L	0.43701	1.375	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69595	-0.5103	9	.	.	.	.	16.1449	0.81559	0.0:0.0:0.0:1.0	.	697	O95835	LATS1_HUMAN	G	697	ENSP00000437550:R697G;ENSP00000253339:R697G	.	R	-	1	2	LATS1	150043208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.103000	0.71492	2.269000	0.75478	0.455000	0.32223	AGG		0.363	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		5	642	0	0	0	1	0	5	642					C	150001515	T	C	150001515	3	2	122	1	0	0	0	0	1	0	0	0	8677	1608	56	4	1319	4	LATS1	6	150001515	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	5919820	150001515	21113552	41	38112											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC													cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc					rs527616759|rs570498188|rs559903070|rs374304439	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698														532	0.10623	0.0076	0.0893	5008	,	,		7133	0.0685		0.1948	False		,,,				2504	0.1994					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(130-132)ccc>cGCCcc		distal-less homeobox 6																																				SO:0001652	inframe_insertion	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96635420_96635421insGCC		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.156_158dupGCC	7.37:g.96635427_96635429dupGCC	ENSP00000428480:p.Pro54_Pro55dup					DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA	p.43_44insR			P56179	DLX6_HUMAN			1	561_562	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		0					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Ins	INS	ENST00000518156.2	37	c.131_132insGCC	CCDS47647.2																																																																																				0.698	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		7	23						7	23	---	---	---	---	GCC	96635421	-	GCC	96635420	7	5	122	1	0	1	1	0	0	0	0	0	4591	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-XN-A8T5-01A-12D-A36O-08		96635420	62503243	42	38113											
SLC26A7	115111	broad.mit.edu	37	chr8	92378867	92378867	+	Frame_Shift_Del	DEL	A	A	-													ccgcttgttttcctgaatgcAaaaaaattttatactgattt							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr8:92378867delA	ENST00000276609.3	+	14	1787	c.1548delA	c.(1546-1548)gcafs	p.A516fs	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTGAATGCAAAAAAATTTT	0.348																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1546-1548)gcfs		solute carrier family 26 (anion exchanger), member 7							61	66	64					8																	92378867		2203	4298	6501	SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92378867delA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1548delA	8.37:g.92378867delA	ENSP00000276609:p.Ala516fs					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs	p.A516fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		14	1787	+			516			STAS.			Frame_Shift_Del	DEL	ENST00000276609.3	37	c.1548delA	CCDS6254.1																																																																																				0.348	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			8	685						8	685	---	---	---	---	-	92378867	A	-	92378867	7	5	122	1	0	1	0	1	0	0	0	0	14572	117	5	0	1598	0	SLC26A7	8	92378867	Frame_Shift_Del	DEL	A	TCGA-XN-A8T5-01A-12D-A36O-08		92378867	53985155	43	38114											
RNF19A	25897	broad.mit.edu	37	chr8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtctttagaatgccGcaaaaggcacaaagggcact	9	9	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	138					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)			TTAGAATGCCGCAAAAGGCAC	0.373																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(412-414)Cgg>Tgg		ring finger protein 19A, RBR E3 ubiquitin protein ligase							107	108	107					8																	101299991		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101299991G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.412C>T	8.37:g.101299991G>A	ENSP00000428968:p.Arg138Trp					RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	p.R138W	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		3	728	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		138					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.412C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG		0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		6	651	0	0	0	1	0	6	651					A	101299991	G	A	101299991	3	1	122	1	0	0	0	0	1	0	0	0	13520	1086	38	1	2140	1	RNF19A	8	101299991	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	8921124	101299991	45064031	44	38115											
TRPM6	140803	broad.mit.edu	37	chr9	77431650	77431650	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caccctgtcccaagccattgCcagatttaattgctctgacg	7	14	1	2	rs374760193		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:77431650C>A	ENST00000360774.1	-	11	1480	c.1243G>T	c.(1243-1245)Gca>Tca	p.A415S	TRPM6_ENST00000376871.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376864.4_Missense_Mutation_p.A415S|TRPM6_ENST00000376872.3_Missense_Mutation_p.A415S|TRPM6_ENST00000449912.2_Missense_Mutation_p.A410S|TRPM6_ENST00000361255.3_Missense_Mutation_p.A410S|TRPM6_ENST00000451710.3_Missense_Mutation_p.A415S	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	415					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						CAAGCCATTGCCAGATTTAAT	0.353																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(1243-1245)Gca>Tca		transient receptor potential cation channel, subfamily M, member 6							113	112	112					9																	77431650		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77431650C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1243G>T	9.37:g.77431650C>A	ENSP00000354006:p.Ala415Ser					TRPM6_ENST00000361255.3_Missense_Mutation_p.A410S|TRPM6_ENST00000449912.2_Missense_Mutation_p.A410S|TRPM6_ENST00000376872.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376871.3_Missense_Mutation_p.A415S|TRPM6_ENST00000376864.4_Missense_Mutation_p.A415S|TRPM6_ENST00000360774.1_Missense_Mutation_p.A415S	p.A415S			Q9BX84	TRPM6_HUMAN			11	1480	-			415					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1243G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295979	0.81025	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.68	4.79	0.61399	.	0.148965	0.64402	D	0.000011	T	0.79551	0.4465	M	0.80982	2.52	0.53688	D	0.999978	P;P;D;P	0.65815	0.944;0.944;0.995;0.849	P;P;P;P	0.58721	0.475;0.572;0.844;0.674	T	0.82950	-0.0203	10	0.72032	D	0.01	.	14.6447	0.68751	0.0:0.9302:0.0:0.0698	.	415;415;415;410	Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3	.;.;TRPM6_HUMAN;.	S	415;415;415;415;410;410;415;78;78	ENSP00000354006:A415S;ENSP00000407341:A415S;ENSP00000366068:A415S;ENSP00000366067:A415S;ENSP00000396672:A410S;ENSP00000354962:A410S;ENSP00000366060:A415S	ENSP00000309693:A78S	A	-	1	0	TRPM6	76621470	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.336000	0.33850	1.418000	0.47098	0.555000	0.69702	GCA		0.353	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		7	391	1	0	1.12685e-05	1	1.20734e-05	7	391					A	77431650	C	A	77431650	3	1	122	1	0	0	0	0	1	0	0	0	16643	739	26	3	4941	3	TRPM6	9	77431650	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		77431650	63781781	45	38116											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	1220						7	1220	---	---	---	---	-	94172779	T	-	94172779	7	5	122	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-XN-A8T5-01A-12D-A36O-08	16741129	94172779	47040652	46	38117											
PHF2	5253	broad.mit.edu	37	chr9	96418827	96418827	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	cctgactcagtttcccaactTtgaaactgcgtgctggtaca	8	12	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:96418827T>A	ENST00000359246.4	+	9	1464	c.1097T>A	c.(1096-1098)tTt>tAt	p.F366Y	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	366					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)		TTTCCCAACTTTGAAACTGCG	0.547																																						ENST00000359246.4																			0				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						c.(1096-1098)tTt>tAt		PHD finger protein 2							132	142	139					9																	96418827		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96418827T>A	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.1097T>A	9.37:g.96418827T>A	ENSP00000352185:p.Phe366Tyr					PHF2_ENST00000375376.4_Intron	p.F366Y	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	9	1464	+		Myeloproliferative disorder(762;0.0255)	366					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.1097T>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036665	0.54896	.	.	ENSG00000197724	ENST00000359246	T	0.57107	0.42	4.47	4.47	0.54385	.	0.049864	0.85682	D	0.000000	T	0.42040	0.1185	L	0.37466	1.105	0.80722	D	1	B	0.21309	0.054	B	0.18263	0.021	T	0.41142	-0.9525	10	0.66056	D	0.02	-15.2641	10.4792	0.44682	0.145:0.0:0.0:0.855	.	366	O75151	PHF2_HUMAN	Y	366	ENSP00000352185:F366Y	ENSP00000352185:F366Y	F	+	2	0	PHF2	95458648	1.000000	0.71417	0.994000	0.49952	0.839000	0.47603	4.898000	0.63238	1.864000	0.54056	0.254000	0.18369	TTT		0.547	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		7	201	0	0	0	1	0	7	201					A	96418827	T	A	96418827	3	1	122	1	0	0	0	0	1	0	0	0	11872	1841	64	5	1131	5	PHF2	9	96418827	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08	2246048	96418827	44794604	47	38118											
OR1N2	138882	broad.mit.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	10	10	3	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	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																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(709-711)cGc>cAc		olfactory receptor, family 1, subfamily N, member 2							252	239	243					9																	125316158		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316158G>A		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						p.R237H	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	768	+			237		R -> C (in dbSNP:rs41316976).			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.710G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	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		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			7	645	0	0	0	1	0	7	645					A	125316158	G	A	125316158	3	1	122	1	0	0	0	0	1	0	0	0	11012	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	28897331	125316158	15897273	48	38119											
KCNT1	57582	broad.mit.edu	37	chr9	138651632	138651632	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggctacggtgacgtcaCgcccaagatctggccatcgc	13	14	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:138651632C>T	ENST00000263604.3	+	11	905	c.905C>T	c.(904-906)aCg>aTg	p.T302M	KCNT1_ENST00000488444.2_Missense_Mutation_p.T302M|KCNT1_ENST00000298480.5_Missense_Mutation_p.T321M|KCNT1_ENST00000371757.2_Missense_Mutation_p.T321M|KCNT1_ENST00000486577.2_Missense_Mutation_p.T282M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T276M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T302M|KCNT1_ENST00000491806.2_Missense_Mutation_p.T288M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	302					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGTGACGTCACGCCCAAGATC	0.647																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(961-963)aCg>aTg		potassium channel, subfamily T, member 1							139	100	113					9																	138651632		2203	4300	6503	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138651632C>T	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.905C>T	9.37:g.138651632C>T	ENSP00000263604:p.Thr302Met					KCNT1_ENST00000488444.2_Missense_Mutation_p.T302M|KCNT1_ENST00000371757.2_Missense_Mutation_p.T321M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T276M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T302M|KCNT1_ENST00000263604.3_Missense_Mutation_p.T302M|KCNT1_ENST00000491806.2_Missense_Mutation_p.T288M|KCNT1_ENST00000486577.2_Missense_Mutation_p.T282M	p.T321M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	11	1036	+		Myeloproliferative disorder(178;0.0821)	321					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.962C>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.407869	0.83340	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;D;T	0.97598	1.69;1.69;1.69;-4.45;1.69	5.05	5.05	0.67936	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75020	0.985;0.978;0.963;0.978	D	0.99387	1.0924	10	0.54805	T	0.06	-17.2905	17.3952	0.87443	0.0:1.0:0.0:0.0	.	288;321;276;302	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	276;321;321;268;282;288;302;302;302	ENSP00000417851:T276M;ENSP00000298480:T321M;ENSP00000360822:T321M;ENSP00000420764:T268M;ENSP00000263604:T302M	ENSP00000263604:T302M	T	+	2	0	KCNT1	137791453	1.000000	0.71417	0.322000	0.25334	0.907000	0.53573	5.820000	0.69250	2.354000	0.79902	0.591000	0.81541	ACG		0.647	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		5	209	0	0	0	1	0	5	209					T	138651632	C	T	138651632	3	4	122	1	0	0	0	0	1	0	0	0	8121	536	19	1	1004	1	KCNT1	9	138651632	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	13335474	138651632	2561799	49	38120											
UAP1L1	91373	broad.mit.edu	37	chr9	139974535	139974535	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggggaatctggtaaagccGctaaaaccgaacgggataaa	13	7	1	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:139974535G>A	ENST00000409858.3	+	6	1151	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	UAP1L1_ENST00000360271.3_Silent_p.P250P	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	373			P -> S (in dbSNP:rs1122444).				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)		TGGTAAAGCCGCTAAAACCGA	0.488																																						ENST00000409858.3																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1117-1119)ccG>ccA		UDP-N-acteylglucosamine pyrophosphorylase 1-like 1							248	219	229					9																	139974535		2202	4300	6502	SO:0001819	synonymous_variant	91373						nucleotidyltransferase activity	g.chr9:139974535G>A	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.1119G>A	9.37:g.139974535G>A						UAP1L1_ENST00000360271.3_Silent_p.P250P	p.P373P	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	6	1151	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	373		P -> S (in dbSNP:rs1122444).			A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	ENST00000409858.3	37	c.1119G>A	CCDS7028.2																																																																																				0.488	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063		7	578	0	0	0	1	0	7	578					A	139974535	G	A	139974535	2	1	122	1	0	0	0	0	0	0	0	1	16880	1074	38	1		1	UAP1L1	9	139974535	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	1322903	139974535	1238896	50	38121											
PIP4K2A	5305	broad.mit.edu	37	chr10	22896891	22896891	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcaattccaaacctctcccGcaggttacggaagaccatcg	7	14	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:22896891G>A	ENST00000376573.4	-	3	532	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R43W|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	102	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.			LRE -> CGK (in Ref. 3; AAB35041). {ECO:0000305}.	megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AACCTCTCCCGCAGGTTACGG	0.448																																						ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(304-306)Cgg>Tgg		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha							96	88	91					10																	22896891		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22896891G>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.304C>T	10.37:g.22896891G>A	ENSP00000365757:p.Arg102Trp					PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R43W|PIP4K2A_ENST00000422321.1_5'UTR	p.R102W	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			3	532	-			102	LRE -> CGK (in Ref. 3; AAB35041).		PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.304C>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061259	0.76187	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565;ENST00000432610	T;T	0.59772	0.24;0.24	5.57	-0.745	0.11098	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.222342	0.43747	D	0.000525	D	0.83991	0.5374	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90747	0.4654	10	0.87932	D	0	-18.1539	17.1895	0.86875	0.0:0.0:0.3371:0.6629	.	102	P48426	PI42A_HUMAN	W	102;43;54;61;54	ENSP00000365757:R102W;ENSP00000442098:R43W	ENSP00000365749:R61W	R	-	1	2	PIP4K2A	22936897	0.895000	0.30542	0.999000	0.59377	0.992000	0.81027	0.273000	0.18662	0.178000	0.19917	-0.182000	0.12963	CGG		0.448	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		4	216	0	0	0	1	0	4	216					A	22896891	G	A	22896891	3	1	122	1	0	0	0	0	1	0	0	0	11978	1086	38	1	948	1	PIP4K2A	10	22896891	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		22896891	112637856	51	38122											
MYO3A	53904	broad.mit.edu	37	chr10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-													aacagagtgtatcagactccAaaaaaaatgaataatgtgta							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					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)	p.M1192fs*1(2)		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						ATCAGACTCCAAAAAAAATGA	0.403																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)ccfs		myosin IIIA							67	66	67					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462760delA	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.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.P1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.3567delA	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	327						8	327	---	---	---	---	-	26462760	A	-	26462760	7	5	122	1	0	1	0	1	0	0	0	0	10117	117	5	0	3677	0	MYO3A	10	26462760	Frame_Shift_Del	DEL	A	TCGA-XN-A8T5-01A-12D-A36O-08	3565869	26462760	109071987	52	38123											
ZNF33B	7582	broad.mit.edu	37	chr10	43090109	43090109	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaatgtttagattgattttCttggctcctctctttcaggt	7	8	3	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:43090109C>A	ENST00000359467.3	-	5	403	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATTGATTTTCTTGGCTCCTC	0.333																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(289-291)Gaa>Taa		zinc finger protein 33B							79	80	80					10																	43090109		2203	4298	6501	SO:0001587	stop_gained	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43090109C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"Zinc fingers, C2H2-type", "-"	13097	protein-coding gene	gene with protein product		194522	"zinc finger protein 33b (KOX 31)", "zinc finger protein 11B"	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.289G>T	10.37:g.43090109C>A	ENSP00000352444:p.Glu97*					ZNF33B_ENST00000486187.1_RNA	p.E97*	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	403	-			97					Q06731|Q32MA2|Q86XY8|Q8NDW3	Nonsense_Mutation	SNP	ENST00000359467.3	37	c.289G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760951	0.89932	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.14	2.14	0.27477	.	0.000000	0.37219	N	0.002190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	10.4164	0.44325	0.0:1.0:0.0:0.0	.	.	.	.	X	97;63	.	ENSP00000352444:E97X	E	-	1	0	ZNF33B	42410115	0.000000	0.05858	0.708000	0.30435	0.654000	0.38779	0.237000	0.17985	1.526000	0.49068	0.416000	0.27883	GAA		0.333	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		13	417	1	0	0.00010058	1	0.000106383	13	417					A	43090109	C	A	43090109	4	1	122	1	0	0	0	0	0	1	0	0	17908	922	32	3	2051	3	ZNF33B	10	43090109	Nonsense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	16627349	43090109	92444638	53	38124											
BICC1	80114	broad.mit.edu	37	chr10	60560029	60560029	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgagtgcaaatcacggggatCcgtccatccagacaagtggg	13	10	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:60560029C>T	ENST00000373886.3	+	13	1805	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	BICC1_ENST00000263103.1_Missense_Mutation_p.P227S	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						TCACGGGGATCCGTCCATCCA	0.403																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(1801-1803)Ccg>Tcg		bicaudal C homolog 1 (Drosophila)							49	46	47					10																	60560029		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60560029C>T	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.1801C>T	10.37:g.60560029C>T	ENSP00000362993:p.Pro601Ser					BICC1_ENST00000263103.1_Missense_Mutation_p.P227S	p.P601S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			13	1805	+			601						Missense_Mutation	SNP	ENST00000373886.3	37	c.1801C>T	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	5.695	0.312787	0.10789	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.46451	1.74;0.87	6.02	6.02	0.97574	.	0.159123	0.64402	D	0.000013	T	0.22399	0.0540	N	0.14661	0.345	0.27805	N	0.942355	B;B	0.17852	0.024;0.003	B;B	0.12156	0.007;0.003	T	0.19192	-1.0313	10	0.06891	T	0.86	-15.2366	10.2723	0.43489	0.0:0.6824:0.2487:0.0689	.	521;601	E7EU62;Q9H694	.;BICC1_HUMAN	S	601;227	ENSP00000362993:P601S;ENSP00000263103:P227S	ENSP00000263103:P227S	P	+	1	0	BICC1	60230035	0.935000	0.31712	1.000000	0.80357	0.353000	0.29299	0.429000	0.21412	2.865000	0.98341	0.655000	0.94253	CCG		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		10	193	0	0	0	1	0	10	193					T	60560029	C	T	60560029	3	4	122	1	0	0	0	0	1	0	0	0	1429	855	30	2	1851	2	BICC1	10	60560029	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	17469920	60560029	74974718	54	38125											
ABCC2	1244	broad.mit.edu	37	chr10	101558979	101558979	+	Frame_Shift_Del	DEL	A	A	-													cctaggaagatgttgaaaagAaaaaaaagaagtctgggacc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:101558979delA	ENST00000370449.4	+	8	996	c.883delA	c.(883-885)aaafs	p.K298fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	298					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)	TGTTGAAAAGAAAAAAAAGAA	0.438																																						ENST00000370449.4																			0				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						c.(883-885)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						133	149	143					10																	101558979		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101558979delA	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.883delA	10.37:g.101558979delA	ENSP00000359478:p.Lys298fs						p.K298fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	996	+		Colorectal(252;0.234)	298					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.883delA	CCDS7484.1																																																																																				0.438	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		7	791						7	791	---	---	---	---	-	101558979	A	-	101558979	7	5	122	1	0	1	0	1	0	0	0	0	53	247	9	0	913	0	ABCC2	10	101558979	Frame_Shift_Del	DEL	A	TCGA-XN-A8T5-01A-12D-A36O-08	40998950	101558979	33975768	55	38126											
C10orf96	374355	broad.mit.edu	37	chr10	118117425	118117425	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaataaaaatcagtgaaaagCctcaaaatgatacagaatgc	6	6	2	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:118117425C>T	ENST00000333254.3	+	7	879	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	210																	CAGTGAAAAGCCTCAAAATGA	0.284																																						ENST00000333254.3																			0											c.(628-630)Cct>Tct		coiled-coil domain containing 172							47	49	48					10																	118117425		2198	4284	6482	SO:0001583	missense	374355							g.chr10:118117425C>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 96"	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.628C>T	10.37:g.118117425C>T	ENSP00000329860:p.Pro210Ser						p.P210S	NM_198515.2	NP_940917.1					7	879	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.628C>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035459	0.54896	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.80287	0.4595	M	0.74258	2.255	0.49798	D	0.999823	D	0.89917	1.0	D	0.77557	0.99	T	0.81872	-0.0733	9	0.87932	D	0	-16.2963	19.5748	0.95438	0.0:1.0:0.0:0.0	.	210	P0C7W6	CJ096_HUMAN	S	210	.	ENSP00000329860:P210S	P	+	1	0	C10orf96	118107415	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	5.059000	0.64306	2.622000	0.88805	0.557000	0.71058	CCT		0.284	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		6	160	0	0	0	1	0	6	160					T	118117425	C	T	118117425	3	4	122	1	0	0	0	0	1	0	0	0	1632	739	26	2	650	2	C10orf96	10	118117425	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	16558446	118117425	17417322	56	38127											
HMX3	340784	broad.mit.edu	37	chr10	124895877	124895877	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatcccggcgcagaggtttgCcctgcccgcgcactacctgg	13	16	0	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:124895877C>T	ENST00000357878.5	+	1	400	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	104					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CAGAGGTTTGCCCTGCCCGCG	0.731																																						ENST00000357878.5																			0				lung(4)	4						c.(310-312)gCc>gTc		H6 family homeobox 3							11	15	14					10																	124895877		1956	4126	6082	SO:0001583	missense	340784				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr10:124895877C>T		CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.311C>T	10.37:g.124895877C>T	ENSP00000350549:p.Ala104Val						p.A104V	NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)	1	400	+		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)	104					A8MU06	Missense_Mutation	SNP	ENST00000357878.5	37	c.311C>T	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331198	0.60853	.	.	ENSG00000188620	ENST00000357878	D	0.91843	-2.92	4.01	4.01	0.46588	.	0.196683	0.42821	D	0.000649	D	0.86481	0.5943	N	0.24115	0.695	0.41786	D	0.989841	P	0.47762	0.9	B	0.42282	0.382	D	0.86231	0.1637	10	0.31617	T	0.26	.	15.6906	0.77450	0.0:1.0:0.0:0.0	.	104	A6NHT5	HMX3_HUMAN	V	104	ENSP00000350549:A104V	ENSP00000350549:A104V	A	+	2	0	HMX3	124885867	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.500000	0.53318	1.748000	0.51833	0.460000	0.39030	GCC		0.731	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	XM_291716		4	81	0	0	0	1	0	4	81					T	124895877	C	T	124895877	3	4	122	1	0	0	0	0	1	0	0	0	7278	739	26	2	313	2	HMX3	10	124895877	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	6778452	124895877	10638870	57	38128											
OR52E8	390079	broad.mit.edu	37	chr11	5878162	5878162	+	Frame_Shift_Del	DEL	A	A	-													aatgaaaaaaatgctggtgtAaaaaaggctaagataacacc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:5878162delA	ENST00000537935.1	-	1	802	c.771delT	c.(769-771)tttfs	p.F257fs	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCTGGTGTAAAAAAGGCTA	0.428																																						ENST00000537935.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(769-771)ttfs		olfactory receptor, family 52, subfamily E, member 8							99	112	108					11																	5878162		2141	4296	6437	SO:0001589	frameshift_variant	390079				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5878162delA	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.771delT	11.37:g.5878162delA	ENSP00000444054:p.Phe257fs					TRIM5_ENST00000380027.1_Intron	p.F257fs	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	802	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)	257					B9EH38	Frame_Shift_Del	DEL	ENST00000537935.1	37	c.771delT	CCDS31400.1																																																																																				0.428	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		7	836						7	836	---	---	---	---	-	5878162	A	-	5878162	7	5	122	1	0	1	0	1	0	0	0	0	11160	359	13	0	184	0	OR52E8	11	5878162	Frame_Shift_Del	DEL	A	TCGA-XN-A8T5-01A-12D-A36O-08		5878162	129128354	58	38129											
OR52W1	120787	broad.mit.edu	37	chr11	6221254	6221254	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctcttctcctacctcacacaCcgctttggtcatcacactgt	4	17	5	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:6221254C>A	ENST00000311352.2	+	1	879	c.801C>A	c.(799-801)caC>caA	p.H267Q	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTCACACACCGCTTTGGTC	0.547																																						ENST00000311352.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11						c.(799-801)caC>caA		olfactory receptor, family 52, subfamily W, member 1							456	417	430					11																	6221254		2201	4296	6497	SO:0001583	missense	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221254C>A	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"GPCR / Class A : Olfactory receptors"	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.801C>A	11.37:g.6221254C>A	ENSP00000309673:p.His267Gln						p.H267Q	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	879	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	267					Q8NH78	Missense_Mutation	SNP	ENST00000311352.2	37	c.801C>A	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858617	0.17178	.	.	ENSG00000175485	ENST00000311352	T	0.00084	8.75	5.11	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001210	T	0.00073	0.0002	L	0.35249	1.045	0.21220	N	0.99975	B	0.29612	0.251	B	0.27076	0.076	T	0.47156	-0.9139	10	0.66056	D	0.02	.	5.0242	0.14376	0.0925:0.3018:0.0912:0.5146	.	267	Q6IF63	O52W1_HUMAN	Q	267	ENSP00000309673:H267Q	ENSP00000309673:H267Q	H	+	3	2	OR52W1	6177830	0.001000	0.12720	0.795000	0.32087	0.080000	0.17528	-0.139000	0.10358	-0.942000	0.03695	-1.012000	0.02466	CAC		0.547	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		10	1433	1	0	2.56e-06	1	2.8349e-06	10	1433					A	6221254	C	A	6221254	3	1	122	1	0	0	0	0	1	0	0	0	11174	506	18	3	803	3	OR52W1	11	6221254	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	343092	6221254	128785262	59	38130											
SLC5A12	159963	broad.mit.edu	37	chr11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgatccttgaatgagaaccGttaagaagcccacaatcatg	8	9	1	4			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	198					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGAGAACCGTTAAGAAGCC	0.403																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(592-594)aCg>aTg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							235	215	222					11																	26725427		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725427G>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.593C>T	11.37:g.26725427G>A	ENSP00000379326:p.Thr198Met					SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	902	-			198					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.593C>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161956	0.78226	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.16	5.16	0.70880	.	0.058040	0.64402	D	0.000003	D	0.91212	0.7231	L	0.46670	1.46	0.39532	D	0.968674	D;D	0.69078	0.978;0.997	P;D	0.67725	0.707;0.953	D	0.92534	0.6036	10	0.72032	D	0.01	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	198;198	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	198;198;10	ENSP00000379326:T198M;ENSP00000280467:T198M;ENSP00000435053:T10M	ENSP00000280467:T198M	T	-	2	0	SLC5A12	26682003	1.000000	0.71417	0.936000	0.37596	0.978000	0.69477	7.957000	0.87870	2.412000	0.81896	0.484000	0.47621	ACG		0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		9	801	0	0	0	1	0	9	801					A	26725427	G	A	26725427	3	1	122	1	0	0	0	0	1	0	0	0	14714	1145	40	1	1307	1	SLC5A12	11	26725427	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	20504173	26725427	108281089	60	38131											
TTC17	55761	broad.mit.edu	37	chr11	43421509	43421509	+	Frame_Shift_Del	DEL	A	A	-													ccactacctgagacagcaggAaatcctagaaaaacataaac							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:43421509delA	ENST00000039989.4	+	9	1144	c.1130delA	c.(1129-1131)gaafs	p.E377fs	TTC17_ENST00000299240.6_Frame_Shift_Del_p.E377fs|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	377					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGACAGCAGGAAATCCTAGAA	0.368																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(1129-1131)gafs		tetratricopeptide repeat domain 17							107	105	106					11																	43421509		2203	4300	6503	SO:0001589	frameshift_variant	55761						binding	g.chr11:43421509delA	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1130delA	11.37:g.43421509delA	ENSP00000039989:p.Glu377fs					TTC17_ENST00000299240.6_Frame_Shift_Del_p.E377fs|TTC17_ENST00000526774.1_3'UTR	p.E377fs	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			9	1144	+			377					G3XAB3|Q8NEC0	Frame_Shift_Del	DEL	ENST00000039989.4	37	c.1130delA	CCDS31466.1																																																																																				0.368	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		7	413						7	413	---	---	---	---	-	43421509	A	-	43421509	7	5	122	1	0	1	0	1	0	0	0	0	16738	246	9	0	1164	0	TTC17	11	43421509	Frame_Shift_Del	DEL	A	TCGA-XN-A8T5-01A-12D-A36O-08	16696082	43421509	91585007	61	38132											
FOLH1	2346	broad.mit.edu	37	chr11	49186320	49186320	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	caatcaactctcagagtgtaGtttcctgaaaaataagaaaa	6	7	2	3	rs201724751		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:49186320G>C	ENST00000256999.2	-	13	1637	c.1377C>G	c.(1375-1377)aaC>aaG	p.N459K	FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K|FOLH1_ENST00000340334.7_Missense_Mutation_p.N444K|FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	459	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)	TCAGAGTGTAGTTTCCTGAAA	0.294																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1330-1332)aaC>aaG		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						32	33	32					11																	49186320		2197	4289	6486	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186320G>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1377C>G	11.37:g.49186320G>C	ENSP00000256999:p.Asn459Lys					FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K|FOLH1_ENST00000256999.2_Missense_Mutation_p.N459K|FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K	p.N444K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			14	1700	-			459			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1332C>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245817	0.39697	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	3.55	1.58	0.23477	Peptidase M28 (1);	0.093737	0.45867	N	0.000325	T	0.53254	0.1785	M	0.66439	2.03	0.45883	D	0.998732	D;D;D;P	0.69078	0.968;0.987;0.997;0.787	P;P;D;B	0.66979	0.823;0.86;0.948;0.416	T	0.48210	-0.9055	10	0.51188	T	0.08	.	5.6849	0.17797	0.3702:0.0:0.6298:0.0	.	444;444;459;459	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	K	459;459;444;151;444;462	ENSP00000256999:N459K;ENSP00000349129:N459K;ENSP00000344131:N444K;ENSP00000344086:N151K;ENSP00000431463:N444K	ENSP00000256999:N459K	N	-	3	2	FOLH1	49142896	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.017000	0.29989	0.194000	0.20326	0.405000	0.27470	AAC		0.294	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		4	294	0	0	0	1	0	4	294					C	49186320	G	C	49186320	3	2	122	1	0	0	0	0	1	0	0	0	6004	1020	36	5	903	5	FOLH1	11	49186320	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	5764811	49186320	85820196	62	38133											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076529	57076529	+	Frame_Shift_Del	DEL	C	C	-													ccttctccccaactccgattCcccccggctcttcagaccct							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:57076529delC	ENST00000532437.1	-	5	3967	c.3656delG	c.(3655-3657)ggafs	p.G1219fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1219	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.G1219E(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)				AACTCCGATTCCCCCCGGCTC	0.582																																						ENST00000532437.1																			1	Substitution - Missense(1)	p.G1219E(1)	central_nervous_system(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						c.(3655-3657)gafs		tankyrase 1 binding protein 1, 182kDa							137	152	147					11																	57076529		2201	4296	6497	SO:0001589	frameshift_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076529delC	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.3656delG	11.37:g.57076529delC	ENSP00000437271:p.Gly1219fs					TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1219fs	p.G1219fs			Q9C0C2	TB182_HUMAN			5	3967	-		all_epithelial(135;0.21)	1219			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	ENST00000532437.1	37	c.3656delG	CCDS7951.1																																																																																				0.582	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		7	1037						7	1037	---	---	---	---	-	57076529	C	-	57076529	7	5	122	1	0	1	0	1	0	0	0	0	16372	855	30	0	1557	0	TNKS1BP1	11	57076529	Frame_Shift_Del	DEL	C	TCGA-XN-A8T5-01A-12D-A36O-08	7890209	57076529	77929987	63	38134											
SLC22A9	114571	broad.mit.edu	37	chr11	63149668	63149669	+	Frame_Shift_Ins	INS	-	-	A													aaaaaagaactggaggcagcINSacaaaaaaaaaaaccttctc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:63149668_63149669insA	ENST00000279178.3	+	6	1241_1242	c.992_993insA	c.(991-996)gcacaafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					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						CTGGAGGCAGCACAAAAAAAAA	0.406																																						ENST00000279178.3																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						c.(991-993)gcafs		solute carrier family 22 (organic anion transporter), member 9																																				SO:0001589	frameshift_variant	114571				transmembrane transport	integral to membrane		g.chr11:63149668_63149669insA	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.993dupA	11.37:g.63149669_63149669dupA	ENSP00000279178:p.Gln332fs					SLC22A9_ENST00000310969.4_3'UTR	p.A331fs	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN			6	1241_1242	+			331					A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	ENST00000279178.3	37	c.992_993insA	CCDS8043.1																																																																																				0.406	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866		7	887						7	887	---	---	---	---	A	63149669	-	A	63149668	7	5	122	1	0	1	1	0	0	0	0	0	14511	710	25	0	1014	0	SLC22A9	11	63149668	Frame_Shift_Ins	INS	-	TCGA-XN-A8T5-01A-12D-A36O-08	6073139	63149668	71856848	64	38135											
SPDYC	387778	broad.mit.edu	37	chr11	64940200	64940200	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggcttggactcgggaccggCgcccccaccatggtggggtt	17	13	0	0	rs201126841		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:64940200C>T	ENST00000377185.2	+	6	644	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TCGGGACCGGCGCCCCCACCA	0.657																																						ENST00000377185.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						c.(562-564)Cgc>Tgc		speedy/RINGO cell cycle regulator family member C							40	43	42					11																	64940200		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940200C>T	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.562C>T	11.37:g.64940200C>T	ENSP00000366390:p.Arg188Cys						p.R188C	NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN			6	644	+			188			Speedy/Ringo box; Required for CDK- binding (By similarity).			Missense_Mutation	SNP	ENST00000377185.2	37	c.562C>T	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811405	0.50527	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.26	-2.55	0.06288	.	0.698349	0.11252	N	0.583506	T	0.24470	0.0593	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.12502	-1.0545	9	0.44086	T	0.13	.	5.5899	0.17295	0.1263:0.4212:0.0:0.4525	.	188	Q5MJ68	SPDYC_HUMAN	C	188	.	ENSP00000366390:R188C	R	+	1	0	SPDYC	64696776	0.000000	0.05858	0.000000	0.03702	0.973000	0.67179	-0.010000	0.12743	-0.920000	0.03799	-0.136000	0.14681	CGC		0.657	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		7	284	0	0	0	1	0	7	284					T	64940200	C	T	64940200	3	4	122	1	0	0	0	0	1	0	0	0	15080	768	27	1	584	1	SPDYC	11	64940200	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	1790532	64940200	70066316	65	38136											
RELA	5970	broad.mit.edu	37	chr11	65421892	65421892	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggctgagaagtccatgtccGcaatggaggagaagtcttca	14	8	2	2	rs199846198		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:65421892G>A	ENST00000406246.3	-	11	1874	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.A535V	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	538					acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GTCCATGTCCGCAATGGAGGA	0.642																																						ENST00000406246.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(1612-1614)gCg>gTg		v-rel avian reticuloendotheliosis viral oncogene homolog A		G	VAL/ALA,VAL/ALA	0,4402		0,0,2201	30	31	31		1604,1613	-0.4	0.9	11		31	1,8593	1.2+/-3.3	0,1,4296	yes	missense,missense	RELA	NM_001145138.1,NM_021975.3	64,64	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	535/549,538/552	65421892	1,12995	2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65421892G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.1613C>T	11.37:g.65421892G>A	ENSP00000384273:p.Ala538Val					RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Missense_Mutation_p.A535V	p.A538V	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN			11	1874	-			538					Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.1613C>T	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983831	0.35036	0.0	1.16E-4	ENSG00000173039	ENST00000406246;ENST00000308639	T;T	0.46819	0.86;0.86	4.05	-0.358	0.12575	.	0.871453	0.09819	N	0.751740	T	0.28366	0.0701	N	0.24115	0.695	0.19775	N	0.999957	B;B;B;B	0.12013	0.001;0.001;0.003;0.005	B;B;B;B	0.09377	0.001;0.001;0.004;0.002	T	0.19877	-1.0292	10	0.42905	T	0.14	-6.3589	3.7588	0.08596	0.3469:0.2045:0.4486:0.0	.	528;524;535;538	Q04206-3;Q04206-2;Q04206-4;Q04206	.;.;.;TF65_HUMAN	V	538;535	ENSP00000384273:A538V;ENSP00000311508:A535V	ENSP00000311508:A535V	A	-	2	0	RELA	65178468	0.304000	0.24472	0.883000	0.34634	0.993000	0.82548	1.272000	0.33109	0.072000	0.16694	-0.291000	0.09656	GCG		0.642	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		4	170	0	0	0	1	0	4	170					A	65421892	G	A	65421892	3	1	122	1	0	0	0	0	1	0	0	0	13266	1087	38	1	46	1	RELA	11	65421892	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	481692	65421892	69584624	66	38137											
GUCY2C	2984	broad.mit.edu	37	chr12	14772183	14772183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctagaggctgtgttgaccGtatctccaaatagacaataa	8	9	1	3	rs370411745		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:14772183G>A	ENST00000261170.3	-	24	2973	c.2837C>T	c.(2836-2838)aCg>aTg	p.T946M	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	946	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGTGTTGACCGTATCTCCAAA	0.488																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(2836-2838)aCg>aTg		guanylate cyclase 2C (heat stable enterotoxin receptor)		G	MET/THR	0,4406		0,0,2203	128	118	122		2837	5.3	0.8	12		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	GUCY2C	NM_004963.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	946/1074	14772183	1,13005	2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14772183G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2837C>T	12.37:g.14772183G>A	ENSP00000261170:p.Thr946Met					RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	p.T946M	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			24	2973	-			946			Guanylate cyclase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2837C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573737	0.86542	0.0	1.16E-4	ENSG00000070019	ENST00000261170	D	0.84442	-1.85	5.29	5.29	0.74685	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	0.96262	0.8781	H	0.99444	4.57	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98376	1.0556	10	0.87932	D	0	.	18.9452	0.92620	0.0:0.0:1.0:0.0	.	946	P25092	GUC2C_HUMAN	M	946	ENSP00000261170:T946M	ENSP00000261170:T946M	T	-	2	0	GUCY2C	14663450	1.000000	0.71417	0.781000	0.31783	0.814000	0.46013	9.784000	0.99039	2.466000	0.83321	0.655000	0.94253	ACG		0.488	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			5	422	0	0	0	1	0	5	422					A	14772183	G	A	14772183	3	1	122	1	0	0	0	0	1	0	0	0	6926	1145	40	1	400	1	GUCY2C	12	14772183	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		14772183	119079712	67	38138											
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ggcactcttgcctacgccacCagctccaactaccacaagtt	6	17	1	0	rs121913530		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		13	312	0	0	0	1	0	13	312					G	25398285	C	G	25398285	3	3	122	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	10626102	25398285	108453610	68	38139											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925049	54925049	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtaactctgttccagagatgCgggccttggcagaactcctg	12	11	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:54925049C>T	ENST00000293373.6	+	23	2591	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					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						TCCAGAGATGCGGGCCTTGGC	0.468																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2512-2514)Cgg>Tgg		NCK-associated protein 1-like							107	115	112					12																	54925049		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925049C>T	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.2512C>T	12.37:g.54925049C>T	ENSP00000293373:p.Arg838Trp					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788W	p.R838W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			23	2591	+			838					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2512C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860810	0.71834	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.37915	1.17;1.17	4.95	4.03	0.46877	.	0.206001	0.36815	N	0.002381	T	0.54334	0.1852	M	0.72353	2.195	0.53688	D	0.99997	D	0.76494	0.999	D	0.66084	0.941	T	0.58317	-0.7657	10	0.87932	D	0	-15.1396	10.3653	0.44019	0.3572:0.6428:0.0:0.0	.	838	P55160	NCKPL_HUMAN	W	838;788	ENSP00000293373:R838W;ENSP00000445596:R788W	ENSP00000293373:R838W	R	+	1	2	NCKAP1L	53211316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.309000	0.43699	1.394000	0.46624	0.655000	0.94253	CGG		0.468	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		7	714	0	0	0	1	0	7	714					T	54925049	C	T	54925049	3	4	122	1	0	0	0	0	1	0	0	0	10264	759	27	1	2602	1	NCKAP1L	12	54925049	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	29526764	54925049	78926846	69	38140											
R3HDM2	22864	broad.mit.edu	37	chr12	57674222	57674222	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agttgctgctgctgctgctgCtgttgctgctgggcagtaca	14	10	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:57674222C>T	ENST00000347140.3	-	14	1611	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	R3HDM2_ENST00000358907.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Silent_p.Q421Q|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000403821.2_Silent_p.Q407Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	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						gctgctgctgctgttgctgct	0.567																																						ENST00000402412.1																			0				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						c.(1261-1263)caG>caA		R3H domain containing 2							104	93	97					12																	57674222		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57674222C>T	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.1221G>A	12.37:g.57674222C>T						R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000403821.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_Silent_p.Q134Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|R3HDM2_ENST00000347140.3_Silent_p.Q407Q	p.Q421Q			Q9Y2K5	R3HD2_HUMAN			14	1653	-			407			Gln-rich.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.1263G>A	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018308	0.35606	.	.	ENSG00000179912	ENST00000466401	.	.	.	4.49	1.62	0.23740	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	1.0729	5.4164	0.16376	0.0:0.5998:0.1455:0.2548	.	.	.	.	N	5	.	.	S	-	2	0	R3HDM2	55960489	0.030000	0.19436	0.992000	0.48379	0.921000	0.55340	-1.132000	0.03235	0.156000	0.19299	-0.294000	0.09567	AGC		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		6	306	0	0	0	1	0	6	306					T	57674222	C	T	57674222	2	4	122	1	0	0	0	0	0	0	0	1	12938	796	28	2		2	R3HDM2	12	57674222	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	2749173	57674222	76177673	70	38141											
ARHGAP9	64333	broad.mit.edu	37	chr12	57871243	57871243	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaggtaaggtctcaccGtctcgctgcgactgcggcgc	15	13	2	0	rs147287939		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:57871243G>A	ENST00000356411.2	-	4	893	c.755C>T	c.(754-756)aCg>aTg	p.T252M	ARHGAP9_ENST00000424809.2_Splice_Site_p.T252M|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000430041.2_Splice_Site_p.T68M|ARHGAP9_ENST00000550288.1_Splice_Site_p.T331M|ARHGAP9_ENST00000393797.2_Splice_Site_p.T323M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	252					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)			AGGTCTCACCGTCTCGCTGCG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		16625	0.001		0.0	False		,,,				2504	0.0					ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.e7+1		Rho GTPase activating protein 9		G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	54	60	58		203,755,755	-2.7	0	12	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice,missense-near-splice,missense-near-splice	ARHGAP9	NM_001080156.1,NM_001080157.1,NM_032496.2	81,81,81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	68/548,252/641,252/732	57871243	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57871243G>A	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.756+1C>T	12.37:g.57871243G>A						ARHGAP9_ENST00000550288.1_Splice_Site_p.T331_splice|ARHGAP9_ENST00000424809.2_Splice_Site_p.T252_splice|ARHGAP9_ENST00000356411.2_Splice_Site_p.T252_splice|ARHGAP9_ENST00000430041.2_Splice_Site_p.T68_splice|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252_splice|ARHGAP9_ENST00000550454.1_5'UTR	p.T323_splice			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		7	1160	-			252			PH.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Splice_Site	SNP	ENST00000356411.2	37	c.969_splice		.	.	.	.	.	.	.	.	.	.	G	7.299	0.612678	0.14066	2.27E-4	2.33E-4	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066	T;T;T;T;T;T	0.48522	3.05;3.05;1.69;3.04;2.95;0.81	3.29	-2.65	0.06095	.	1.008660	0.07975	N	0.984731	T	0.28167	0.0695	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B	0.25955	0.138;0.016;0.001;0.005;0.008;0.004	B;B;B;B;B;B	0.11329	0.004;0.004;0.001;0.006;0.002;0.003	T	0.11446	-1.0587	10	0.33940	T	0.23	.	5.1466	0.14989	0.4042:0.0:0.4589:0.1369	.	252;331;252;252;252;68	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	M	252;252;252;323;301;68;68;68;105;68	ENSP00000377380:T252M;ENSP00000348782:T252M;ENSP00000394307:T252M;ENSP00000377386:T323M;ENSP00000397950:T68M;ENSP00000449829:T68M	ENSP00000344852:T301M	T	-	2	0	ARHGAP9	56157510	0.001000	0.12720	0.013000	0.15412	0.024000	0.10985	-0.850000	0.04317	-0.995000	0.03459	-0.797000	0.03246	ACG		0.577	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496	Missense_Mutation	17	308	0	0	0	1	0	17	308					A	57871243	G	A	57871243	5	1	122	1	0	0	0	0	0	0	1	0	889	1159	40	1	1500	1	ARHGAP9	12	57871243	Splice_Site	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	197021	57871243	75980652	71	38142											
ATP2A2	488	broad.mit.edu	37	chr12	110778544	110778544	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctccgtgaagctgtgccgGcaagcaggcatccgggtcat	13	13	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:110778544G>A	ENST00000539276.2	+	14	1951	c.1842G>A	c.(1840-1842)cgG>cgA	p.R614R	ATP2A2_ENST00000308664.6_Silent_p.R614R|ATP2A2_ENST00000395494.2_Silent_p.R587R			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	614					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						AGCTGTGCCGGCAAGCAGGCA	0.577																																						ENST00000395494.2																			0				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						c.(1759-1761)cgG>cgA		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							95	93	94					12																	110778544		2203	4300	6503	SO:0001819	synonymous_variant	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110778544G>A		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.1842G>A	12.37:g.110778544G>A						ATP2A2_ENST00000539276.2_Silent_p.R614R|ATP2A2_ENST00000308664.6_Silent_p.R614R	p.R587R			P16615	AT2A2_HUMAN			13	2324	+			614			Interacts with HAX1.		A6NDN7|B4DF05|P16614|Q86VJ2	Silent	SNP	ENST00000539276.2	37	c.1761G>A	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	9.919	1.211730	0.22289	.	.	ENSG00000174437	ENST00000548169	.	.	.	6.07	-1.46	0.08800	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38415	-0.9662	4	.	.	.	.	6.5171	0.22254	0.3725:0.3045:0.323:0.0	.	.	.	.	T	505	.	.	A	+	1	0	ATP2A2	109262927	0.478000	0.25917	0.955000	0.39395	0.960000	0.62799	-0.155000	0.10115	-0.590000	0.05866	-0.889000	0.02933	GCA		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		5	359	0	0	0	1	0	5	359					A	110778544	G	A	110778544	2	1	122	1	0	0	0	0	0	0	0	1	1138	1190	42	2		2	ATP2A2	12	110778544	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	52907301	110778544	23073351	72	38143											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							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)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	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.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		8	495						8	495	---	---	---	---	-	46542017	CT	-	46542016	7	5	122	1	0	1	0	1	0	0	0	0	17618	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-XN-A8T5-01A-12D-A36O-08		46542016	68627862	73	38144											
GPC5	2262	broad.mit.edu	37	chr13	92101122	92101122	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	atatgcagcagtttcttcaaAcgtccagctctacattaaag	6	10	3	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr13:92101122A>G	ENST00000377067.3	+	2	643	c.271A>G	c.(271-273)Acg>Gcg	p.T91A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	91					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)				GTTTCTTCAAACGTCCAGCTC	0.438																																						ENST00000377067.3																			0				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						c.(271-273)Acg>Gcg		glypican 5							134	123	127					13																	92101122		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101122A>G	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.271A>G	13.37:g.92101122A>G	ENSP00000366267:p.Thr91Ala						p.T91A	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			2	643	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	91					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.271A>G	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.274	0.814030	0.16537	.	.	ENSG00000179399	ENST00000377067	T	0.47528	0.84	5.5	0.224	0.15297	.	0.228421	0.44483	N	0.000455	T	0.31389	0.0795	L	0.42245	1.32	0.30752	N	0.745058	B	0.28470	0.213	B	0.28139	0.086	T	0.18304	-1.0341	10	0.22109	T	0.4	.	4.9471	0.13994	0.663:0.0:0.2116:0.1254	.	91	P78333	GPC5_HUMAN	A	91	ENSP00000366267:T91A	ENSP00000366267:T91A	T	+	1	0	GPC5	90899123	0.881000	0.30235	0.790000	0.31976	0.231000	0.25187	0.600000	0.24104	-0.165000	0.10908	0.383000	0.25322	ACG		0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		21	398	0	0	0	1	0	21	398					G	92101122	A	G	92101122	3	3	122	1	0	0	0	0	1	0	0	0	6630	43	2	4	277	4	GPC5	13	92101122	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	45559106	92101122	23068756	74	38145											
ARHGEF7	8874	broad.mit.edu	37	chr13	111862267	111862267	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgcccggccctcgtctcaccGcataaagtcttttgactccc	7	17	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr13:111862267G>A	ENST00000375741.2	+	5	699	c.449G>A	c.(448-450)cGc>cAc	p.R150H	ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	150					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)			TCGTCTCACCGCATAAAGTCT	0.517																																						ENST00000375741.2																			0				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						c.(448-450)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 7							184	178	180					13																	111862267		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111862267G>A	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.449G>A	13.37:g.111862267G>A	ENSP00000364893:p.Arg150His					ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000375723.1_5'UTR	p.R150H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		5	699	+	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)		150					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.449G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152947	0.57259	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.53206	0.64;0.63;0.67;0.85;0.65	5.39	5.39	0.77823	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	L	0.29908	0.895	0.80722	D	1	B;D;P;P	0.76494	0.016;0.999;0.597;0.719	B;D;B;B	0.65010	0.014;0.931;0.047;0.148	T	0.60717	-0.7208	10	0.66056	D	0.02	.	19.5049	0.95111	0.0:0.0:1.0:0.0	.	47;100;150;129	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	H	129;150;100;127;47;47	ENSP00000325994:R129H;ENSP00000364893:R150H;ENSP00000364891:R100H;ENSP00000389890:R47H;ENSP00000364889:R47H	ENSP00000325994:R129H	R	+	2	0	ARHGEF7	110660268	1.000000	0.71417	0.691000	0.30163	0.414000	0.31173	8.953000	0.93041	2.677000	0.91161	0.655000	0.94253	CGC		0.517	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113511		7	854	0	0	0	1	0	7	854					A	111862267	G	A	111862267	3	1	122	1	0	0	0	0	1	0	0	0	911	1087	38	1	467	1	ARHGEF7	13	111862267	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	19761145	111862267	3307611	75	38146											
LTB4R	1241	broad.mit.edu	37	chr14	24785074	24785074	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgtattgctcactgctcccTttttccttcacttcctggcc	5	17	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:24785074T>C	ENST00000396789.4	+	2	1942	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L|LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	73					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACTGCTCCCTTTTTCCTTCA	0.582																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(217-219)Ttt>Ctt		leukotriene B4 receptor							183	163	170					14																	24785074		2203	4300	6503	SO:0001583	missense	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785074T>C	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.217T>C	14.37:g.24785074T>C	ENSP00000380008:p.Phe73Leu					LTB4R_ENST00000345363.3_Missense_Mutation_p.F73L|LTB4R_ENST00000396782.2_Missense_Mutation_p.F73L	p.F73L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	1942	+			73					Q13305|Q53XV5|Q92641|Q9BSU5	Missense_Mutation	SNP	ENST00000396789.4	37	c.217T>C	CCDS9626.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145293	0.37825	.	.	ENSG00000213903	ENST00000553481;ENST00000345363;ENST00000396789;ENST00000396782	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.89	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.238062	0.36200	U	0.002721	T	0.27629	0.0679	L	0.37466	1.105	0.37507	D	0.917019	B	0.17465	0.022	B	0.17433	0.018	T	0.12142	-1.0559	10	0.20046	T	0.44	.	11.3543	0.49607	0.0:0.0:0.1521:0.8479	.	73	Q15722	LT4R1_HUMAN	L	73	ENSP00000450457:F73L;ENSP00000307445:F73L;ENSP00000380008:F73L;ENSP00000380002:F73L	ENSP00000307445:F73L	F	+	1	0	LTB4R	23854914	0.279000	0.24239	0.998000	0.56505	0.991000	0.79684	0.623000	0.24447	1.009000	0.39289	0.533000	0.62120	TTT		0.582	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			8	525	0	0	0	1	0	8	525					C	24785074	T	C	24785074	3	2	122	1	0	0	0	0	1	0	0	0	9109	1609	56	4	219	4	LTB4R	14	24785074	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08		24785074	82564466	76	38147											
NFATC4	4776	broad.mit.edu	37	chr14	24842975	24842975	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gggtgagacggacatcgggcGcaaaaacacacgtgtacggc	15	10	0	1	rs372002281		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:24842975G>A	ENST00000250373.4	+	5	1775	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000413692.2_Missense_Mutation_p.R608H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000557767.1_5'Flank|NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000555393.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000555802.1_5'Flank|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	545	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)	p.R545H(1)|p.R608H(1)		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)		GACATCGGGCGCAAAAACACA	0.592																																						ENST00000413692.2																			2	Substitution - Missense(2)	p.R545H(1)|p.R608H(1)	kidney(2)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(1822-1824)cGc>cAc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							98	94	95					14																	24842975		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24842975G>A	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.1634G>A	14.37:g.24842975G>A	ENSP00000250373:p.Arg545His					NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R545H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H	p.R608H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	6	1967	+			545			IPT/TIG.		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	ENST00000250373.4	37	c.1823G>A	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453251	0.96223	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	4.88	4.88	0.63580	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92535	0.7629	M	0.83852	2.665	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	0.91635	0.995;0.995;0.999;0.997;0.999;0.999;0.998;0.998;0.998;0.996;0.999;0.999;0.999;0.999;0.999	D	0.93493	0.6837	10	0.87932	D	0	-5.9017	15.5774	0.76404	0.0:0.0:1.0:0.0	.	533;533;577;577;558;558;558;608;608;533;475;577;522;608;545	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	H	608;608;558;558;558;577;577;577;545;545;545;475;475;475;533;475;533;533;80;80;80	ENSP00000388910:R608H;ENSP00000452039:R608H;ENSP00000451224:R558H;ENSP00000450644:R558H;ENSP00000388668:R558H;ENSP00000439350:R577H;ENSP00000452270:R577H;ENSP00000451502:R577H;ENSP00000451151:R545H;ENSP00000250373:R545H;ENSP00000450590:R545H;ENSP00000452349:R475H;ENSP00000450469:R475H;ENSP00000450733:R475H;ENSP00000451454:R533H;ENSP00000451284:R475H;ENSP00000396788:R533H;ENSP00000450686:R533H;ENSP00000450810:R80H;ENSP00000451183:R80H;ENSP00000451395:R80H	ENSP00000250373:R545H	R	+	2	0	NFATC4	23912815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.652000	0.98499	2.515000	0.84797	0.655000	0.94253	CGC		0.592	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		5	411	0	0	0	1	0	5	411					A	24842975	G	A	24842975	3	1	122	1	0	0	0	0	1	0	0	0	10407	1087	38	1	1845	1	NFATC4	14	24842975	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	57901	24842975	82506565	77	38148											
TRMT5	57570	broad.mit.edu	37	chr14	61442343	61442343	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cacagctccagccctttgccGaacatcctcagcagggttag	9	15	1	0	rs150018663		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:61442343G>A	ENST00000261249.6	-	4	1678	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	RNU6-398P_ENST00000384143.1_RNA|RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5											NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		GCCCTTTGCCGAACATCCTCA	0.483																																						ENST00000261249.6																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11						c.(1294-1296)Cgg>Tgg		tRNA methyltransferase 5		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	103	98	100		1294	5.7	0.5	14	dbSNP_134	100	0,8600		0,0,4300	no	missense	TRMT5	NM_020810.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	432/510	61442343	1,13005	2203	4300	6503	SO:0001583	missense	57570					cytoplasm	tRNA (guanine-N1-)-methyltransferase activity	g.chr14:61442343G>A	AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"tRNA (guanine(37)-N1)-methyltransferase"	611023	"KIAA1393", "tRNA methyltransferase 5 homolog (S. cerevisiae)"	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1294C>T	14.37:g.61442343G>A	ENSP00000261249:p.Arg432Trp					RP11-193F5.1_ENST00000553946.1_RNA	p.R432W	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0873)	4	1678	-			432						Missense_Mutation	SNP	ENST00000261249.6	37	c.1294C>T	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380451	0.61845	2.27E-4	0.0	ENSG00000126814	ENST00000261249	T	0.23147	1.92	5.65	5.65	0.86999	.	0.634972	0.16877	N	0.195848	T	0.30166	0.0756	L	0.55213	1.73	0.40156	D	0.977004	D	0.56746	0.977	P	0.44860	0.462	T	0.02115	-1.1211	10	0.37606	T	0.19	-0.0093	14.7174	0.69280	0.0:0.0:0.8554:0.1446	.	432	Q32P41	TRM5_HUMAN	W	432	ENSP00000261249:R432W	ENSP00000261249:R432W	R	-	1	2	TRMT5	60512096	0.903000	0.30736	0.533000	0.28001	0.504000	0.33889	2.771000	0.47670	2.941000	0.99782	0.655000	0.94253	CGG		0.483	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081		5	402	0	0	0	1	0	5	402					A	61442343	G	A	61442343	3	1	122	1	0	0	0	0	1	0	0	0	16620	1057	37	1	243	1	TRMT5	14	61442343	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	36599368	61442343	45907197	78	38149											
SLC8A3	6547	broad.mit.edu	37	chr14	70633740	70633740	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaatgtcgtcatcaattatgCccacggagaactccttctgg	8	11	3	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr14:70633740C>T	ENST00000381269.2	-	2	2153	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	467	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCAATTATGCCCACGGAGAA	0.517																																						ENST00000381269.2																			0				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						c.(1399-1401)gGc>gAc		solute carrier family 8 (sodium/calcium exchanger), member 3							166	166	166					14																	70633740		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633740C>T	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.1400G>A	14.37:g.70633740C>T	ENSP00000370669:p.Gly467Asp					SLC8A3_ENST00000356921.2_Missense_Mutation_p.G467D|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G467D|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G467D|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G467D	p.G467D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2153	-			467			Calx-beta 1.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1400G>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002330	0.35320	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.53	5.53	0.82687	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	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	0.97110	1.0;1.0;1.0;1.0	T	0.15492	-1.0435	10	0.25106	T	0.35	.	19.463	0.94927	0.0:1.0:0.0:0.0	.	467;467;467;467	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	D	467	ENSP00000349392:G467D;ENSP00000370669:G467D;ENSP00000350560:G467D;ENSP00000436688:G467D;ENSP00000433531:G467D	ENSP00000349392:G467D	G	-	2	0	SLC8A3	69703493	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	4.980000	0.63812	2.587000	0.87381	0.643000	0.83706	GGC		0.517	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			6	818	0	0	0	1	0	6	818					T	70633740	C	T	70633740	3	4	122	1	0	0	0	0	1	0	0	0	14758	739	26	2	1522	2	SLC8A3	14	70633740	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	9191397	70633740	36715800	79	38150											
HERC2	8924	broad.mit.edu	37	chr15	28515989	28515989	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctcaggaaactctcaTtggggctcagagggccagac	13	11	3	2	rs201724547		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:28515989T>C	ENST00000261609.7	-	10	1217	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		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)		GAAACTCTCATTGGGGCTCAG	0.448																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(1108-1110)aAt>aGt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							43	38	40					15																	28515989		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28515989T>C	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.1109A>G	15.37:g.28515989T>C	ENSP00000261609:p.Asn370Ser						p.N370S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	10	1217	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	370						Missense_Mutation	SNP	ENST00000261609.7	37	c.1109A>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.748774	0.49257	.	.	ENSG00000128731	ENST00000261609	T	0.36699	1.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	N	0.19112	0.55	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	T	0.18903	-1.0322	10	0.15499	T	0.54	.	16.0326	0.80588	0.0:0.0:0.0:1.0	.	370	O95714	HERC2_HUMAN	S	370	ENSP00000261609:N370S	ENSP00000261609:N370S	N	-	2	0	HERC2	26189584	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.296000	0.72751	2.185000	0.69588	0.528000	0.53228	AAT		0.448	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	156	0	0	0	1	0	4	156					C	28515989	T	C	28515989	3	2	122	1	0	0	0	0	1	0	0	0	7088	1493	52	4	13731	4	HERC2	15	28515989	Missense_Mutation	SNP	T	TCGA-XN-A8T5-01A-12D-A36O-08		28515989	74015403	80	38151											
SLC24A1	9187	broad.mit.edu	37	chr15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-													aggaggaagagcaggaggaaGaggaggaggaggaggaggaa							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000449142.2_3'UTR	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	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	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.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000449142.2_3'UTR	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		7	140						7	140	---	---	---	---	-	65943130	GAG	-	65943128	7	5	122	1	0	1	0	1	0	0	0	0	14515	943	33	0	769	0	SLC24A1	15	65943128	In_Frame_Del	DEL	GAG	TCGA-XN-A8T5-01A-12D-A36O-08	37427139	65943128	36588264	81	38152											
UACA	55075	broad.mit.edu	37	chr15	70960066	70960066	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgacaattgggGcgtattttaccttaatgcat	8	9	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr15:70960066G>A	ENST00000322954.6	-	16	3142	c.2957C>T	c.(2956-2958)gCc>gTc	p.A986V	UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	986					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						GACAATTGGGGCGTATTTTAC	0.403																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2956-2958)gCc>gTc		uveal autoantigen with coiled-coil domains and ankyrin repeats							183	168	173					15																	70960066		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960066G>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2957C>T	15.37:g.70960066G>A	ENSP00000314556:p.Ala986Val					UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V	p.A986V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3142	-			986					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2957C>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007305	0.19199	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.34472	1.36;1.38;1.84	5.95	5.95	0.96441	.	0.090219	0.48286	D	0.000185	T	0.49508	0.1561	L	0.55481	1.735	0.37463	D	0.915283	P;P;P;P	0.47253	0.889;0.823;0.892;0.889	P;P;P;P	0.52217	0.693;0.497;0.497;0.542	T	0.35475	-0.9787	10	0.29301	T	0.29	-2.1448	20.3931	0.98965	0.0:0.0:1.0:0.0	.	877;986;986;973	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	986;973;877	ENSP00000314556:A986V;ENSP00000369319:A973V;ENSP00000438667:A877V	ENSP00000314556:A986V	A	-	2	0	UACA	68747120	1.000000	0.71417	0.022000	0.16811	0.126000	0.20510	5.695000	0.68279	2.824000	0.97209	0.655000	0.94253	GCC		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			6	712	0	0	0	1	0	6	712					A	70960066	G	A	70960066	3	1	122	1	0	0	0	0	1	0	0	0	16878	1203	42	2	1309	2	UACA	15	70960066	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	5016938	70960066	31571326	82	38153											
A2BP1	54715	broad.mit.edu	37	chr16	7714957	7714957	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	ttaccaggatggattttatgGtgcagacatttatgtaagta	10	4	0	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:7714957G>C	ENST00000550418.1	+	13	1905	c.917G>C	c.(916-918)gGt>gCt	p.G306A	RBFOX1_ENST00000547338.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000340209.4_Missense_Mutation_p.G311A|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G279A|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G349A|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G349A|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G323A|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G263A	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	306					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GGATTTTATGGTGCAGACATT	0.438																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(931-933)gGt>gCt		RNA binding protein, fox-1 homolog (C. elegans) 1							374	355	361					16																	7714957		1963	4168	6131	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7714957G>C	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.917G>C	16.37:g.7714957G>C	ENSP00000450031:p.Gly306Ala					RBFOX1_ENST00000550418.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G349A|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G323A|RBFOX1_ENST00000355637.4_Intron|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G306A|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G349A|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G279A|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G263A	p.G311A			Q9NWB1	RFOX1_HUMAN			10	1229	+			306					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.932G>C	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508204	0.85282	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000340209	T;T;T;T;T;T	0.54071	0.6;1.36;0.81;1.09;0.6;0.59	5.75	5.75	0.90469	.	.	.	.	.	T	0.71213	0.3313	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.997;0.996	D;D;D;D	0.80764	0.994;0.974;0.956;0.974	T	0.64449	-0.6405	9	0.23891	T	0.37	.	19.9889	0.97359	0.0:0.0:1.0:0.0	.	263;349;279;306	F5H0M1;B7Z1U7;Q9NWB1-3;Q9NWB1	.;.;.;RFOX1_HUMAN	A	306;279;349;349;263;323;306;311	ENSP00000450031:G306A;ENSP00000447753:G279A;ENSP00000446842:G349A;ENSP00000391269:G349A;ENSP00000447717:G306A;ENSP00000344196:G311A	ENSP00000344196:G311A	G	+	2	0	RBFOX1	7654958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.598000	0.90852	2.727000	0.93392	0.650000	0.86243	GGT		0.438	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		20	657	0	0	0	1	0	20	657					C	7714957	G	C	7714957	3	2	122	1	0	0	0	0	1	0	0	0	3	1261	44	5	1046	5	A2BP1	16	7714957	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		7714957	82639796	83	38154											
SMG1	23049	broad.mit.edu	37	chr16	18896965	18896965	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gtatccacattttcaagaatAgactgcaggctggtcattac	8	9	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:18896965A>T	ENST00000446231.2	-	7	1258	c.846T>A	c.(844-846)tcT>tcA	p.S282S	SMG1_ENST00000389467.3_Silent_p.S282S|SMG1_ENST00000565224.1_Silent_p.S256S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	282	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						TTTCAAGAATAGACTGCAGGC	0.333																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(844-846)tcT>tcA		SMG1 phosphatidylinositol 3-kinase-related kinase							94	99	98					16																	18896965		985	2082	3067	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18896965A>T	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.846T>A	16.37:g.18896965A>T						SMG1_ENST00000389467.3_Silent_p.S282S|SMG1_ENST00000565224.1_Silent_p.S256S	p.S282S			Q96Q15	SMG1_HUMAN			7	1258	-			282			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.846T>A	CCDS45430.1																																																																																				0.333	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		5	368	0	0	0	1	0	5	368					T	18896965	A	T	18896965	2	4	122	1	0	0	0	0	0	0	0	1	14845	407	15	5		5	SMG1	16	18896965	Silent	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	11182008	18896965	71457788	84	38155											
KIAA0182	23199	broad.mit.edu	37	chr16	85682180	85682180	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctcactgagcagcgagtcGtcccccgtgtcctctccggc	10	18	2	1	rs370456740		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:85682180G>A	ENST00000253458.7	+	3	425	c.249G>A	c.(247-249)tcG>tcA	p.S83S	GSE1_ENST00000405402.2_5'UTR|GSE1_ENST00000393243.1_Silent_p.S10S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	83																	GCAGCGAGTCGTCCCCCGTGT	0.697																																						ENST00000253458.7																			0											c.(247-249)tcG>tcA		Gse1 coiled-coil protein		G	,	0,4396		0,0,2198	72	75	74		,249	-3.1	1	16		74	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,coding-synonymous	KIAA0182	NM_001134473.1,NM_014615.2	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	,83/1218	85682180	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85682180G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.249G>A	16.37:g.85682180G>A						GSE1_ENST00000405402.2_5'UTR|GSE1_ENST00000393243.1_Silent_p.S10S	p.S83S	NM_014615.2	NP_055430.1					3	425	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.249G>A	CCDS10952.1																																																																																				0.697	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		17	332	0	0	0	1	0	17	332					A	85682180	G	A	85682180	2	1	122	1	0	0	0	0	0	0	0	1	8189	1132	40	1		1	KIAA0182	16	85682180	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	66785215	85682180	4672573	85	38156											
FANCA	2175	broad.mit.edu	37	chr16	89858476	89858476	+	Splice_Site	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcagcatcacaaagaGctgaaataaaagcatccgct	7	11	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:89858476G>T	ENST00000389301.3	-	13	1114	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	FANCA_ENST00000568369.1_Splice_Site_p.L362I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	362					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)		ATCACAAAGAGCTGAAATAAA	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"D, Mis, N, F, S"	"Fanconi anemia, complementation group A"			L		"AML, leukemia"			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.e13-1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							99	95	96					16																	89858476		2198	4300	6498	SO:0001630	splice_region_variant	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89858476G>T	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.1084-1C>A	16.37:g.89858476G>T						FANCA_ENST00000568369.1_Splice_Site_p.L362_splice	p.L362_splice	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	13	1114	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	362					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Splice_Site	SNP	ENST00000389301.3	37	c.1083_splice	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808175	0.50421	.	.	ENSG00000187741	ENST00000389301	T	0.67523	-0.27	5.64	3.65	0.41850	.	0.456880	0.18430	N	0.141443	T	0.60958	0.2309	M	0.71581	2.175	0.80722	D	1	P;P	0.38788	0.647;0.639	B;B	0.30943	0.091;0.122	T	0.60347	-0.7281	10	0.44086	T	0.13	-13.4105	11.8401	0.52348	0.0:0.1373:0.7281:0.1346	.	362;362	B4DRI7;O15360	.;FANCA_HUMAN	I	362	ENSP00000373952:L362I	ENSP00000373952:L362I	L	-	1	0	FANCA	88385977	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	3.211000	0.51137	0.725000	0.32318	-0.139000	0.14373	CTC		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		Missense_Mutation	5	280	1	0	1	1	1	5	280					T	89858476	G	T	89858476	5	4	122	1	0	0	0	0	0	0	1	0	5687	985	34	3	3407	3	FANCA	16	89858476	Splice_Site	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	4176296	89858476	496277	86	38157											
PLSCR3	100529211	broad.mit.edu	37	chr17	7296183	7296183	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaagactgtctggcgatcgGcatcctggatggagaacttg	14	9	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7296183G>A	ENST00000576362.1	-	5	681	c.524C>T	c.(523-525)gCc>gTc	p.A175V	TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.A199V					TMEM256-PLSCR3 readthrough (NMD candidate)																		CTGGCGATCGGCATCCTGGAT	0.587																																						ENST00000535512.1																			0				endometrium(1)|kidney(2)|urinary_tract(1)	4						c.(595-597)gCc>gTc		phospholipid scramblase 3							214	236	229					17																	7296183		2089	4206	6295	SO:0001583	missense	57048				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding	g.chr17:7296183G>A			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.524C>T	17.37:g.7296183G>A	ENSP00000460800:p.Ala175Val					PLSCR3_ENST00000574401.1_Missense_Mutation_p.A199V|PLSCR3_ENST00000576362.1_Missense_Mutation_p.A175V|PLSCR3_ENST00000324822.11_Missense_Mutation_p.A199V|PLSCR3_ENST00000576201.1_Missense_Mutation_p.A199V|C17orf61-PLSCR3_ENST00000573331.1_3'UTR	p.A199V			Q9NRY6	PLS3_HUMAN			9	1613	-		Prostate(122;0.173)	199						Missense_Mutation	SNP	ENST00000576362.1	37	c.596C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.793830|4.793830	0.90453|0.90453	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000535512;ENST00000324822|ENST00000380658	T;T|.	0.32023|.	1.47;1.47|.	5.69|5.69	4.72|4.72	0.59763|0.59763	.|.	0.193957|.	0.44285|.	N|.	0.000472|.	T|T	0.56688|0.56688	0.2002|0.2002	L|L	0.45422|0.45422	1.42|1.42	0.41806|0.41806	D|D	0.98994|0.98994	P;P|.	0.39094|.	0.659;0.476|.	B;B|.	0.42882|.	0.401;0.223|.	T|T	0.60403|0.60403	-0.7270|-0.7270	10|6	0.34782|0.87932	T|D	0.22|0	-8.8642|-8.8642	7.3178|7.3178	0.26511|0.26511	0.0852:0.0:0.7473:0.1674|0.0852:0.0:0.7473:0.1674	.|.	199;254|.	Q9NRY6;D3DTP7|.	PLS3_HUMAN;.|.	V|S	199|199	ENSP00000438547:A199V;ENSP00000316021:A199V|.	ENSP00000316021:A199V|ENSP00000370033:P199S	A|P	-|-	2|1	0|0	PLSCR3|PLSCR3	7236907|7236907	0.974000|0.974000	0.33945|0.33945	0.842000|0.842000	0.33263|0.33263	0.991000|0.991000	0.79684|0.79684	3.347000|3.347000	0.52200|0.52200	1.405000|1.405000	0.46838|0.46838	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.587	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440808.1			6	970	0	0	0	1	0	6	970					A	7296183	G	A	7296183	3	1	122	1	0	0	0	0	1	0	0	0	12153	1203	42	2	303	2	PLSCR3	17	7296183	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		7296183	73899027	87	38158											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	23	9	0	1	rs121912654		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50	52	51					17																	7578461		2202	4300	6502	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F	p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	278	1	0	5.18039e-06	1	5.62345e-06	6	278					A	7578461	C	A	7578461	3	1	122	1	0	0	0	0	1	0	0	0	16434	536	19	3	829	3	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	282278	7578461	73616749	88	38159											
GUCY2D	3000	broad.mit.edu	37	chr17	7915536	7915536	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggggagcagaaggccctgcGgccctctgggagggcaacct	17	13	1	1	rs63749078		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7915536G>A	ENST00000254854.4	+	9	1974	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	608	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)				AAGGCCCTGCGGCCCTCTGGG	0.617																																						ENST00000254854.4																			0				skin(1)	1						c.(1822-1824)gcG>gcA		guanylate cyclase 2D, membrane (retina-specific)							38	43	42					17																	7915536		2203	4300	6503	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7915536G>A	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.1824G>A	17.37:g.7915536G>A							p.A608A	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			9	1974	+		Prostate(122;0.157)	608			Protein kinase.		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.1824G>A	CCDS11127.1																																																																																				0.617	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			8	229	0	0	0	1	0	8	229					A	7915536	G	A	7915536	2	1	122	1	0	0	0	0	0	0	0	1	6927	1103	39	1		1	GUCY2D	17	7915536	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	337075	7915536	73279674	89	38160											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	11	13	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	416	0	0	0	1	0	5	416					G	16285497	A	G	16285497	2	3	122	1	0	0	0	0	0	0	0	1	16895	69	3	4		4	UBB	17	16285497	Silent	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	8369961	16285497	64909713	90	38161											
KRT37	8688	broad.mit.edu	37	chr17	39580491	39580491	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccattcagggtgtttttgccGtaggccccacagattccgat	10	12	1	1	rs146872723	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:39580491G>A	ENST00000225550.3	-	1	284	c.285C>T	c.(283-285)taC>taT	p.Y95Y	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	95	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGTTTTTGCCGTAGGCCCCAC	0.597																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(283-285)taC>taT		keratin 37		G		5,4401		0,5,2198	86	72	77		285	-7.4	0	17	dbSNP_134	77	1,8599		0,1,4299	yes	coding-synonymous	KRT37	NM_003770.4		0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461		95/450	39580491	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580491G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.285C>T	17.37:g.39580491G>A						AC003958.2_ENST00000432258.1_RNA	p.Y95Y	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			1	284	-		Breast(137;0.000496)	95			Head.			Silent	SNP	ENST00000225550.3	37	c.285C>T	CCDS32653.1																																																																																				0.597	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		6	318	0	0	0	1	0	6	318					A	39580491	G	A	39580491	2	1	122	1	0	0	0	0	0	0	0	1	8504	1140	40	1		1	KRT37	17	39580491	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	23294994	39580491	41614719	91	38162											
SMURF2	64750	broad.mit.edu	37	chr17	62558963	62558963	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgggaaagttcttgccGcaaaatttttagtttctgaa	9	5	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:62558963G>A	ENST00000262435.9	-	11	1325	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	380					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)			AGTTCTTGCCGCAAAATTTTT	0.448																																						ENST00000262435.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22						c.(1138-1140)Cgg>Tgg		SMAD specific E3 ubiquitin protein ligase 2							118	105	110					17																	62558963		2203	4300	6503	SO:0001583	missense	64750				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	g.chr17:62558963G>A	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.1138C>T	17.37:g.62558963G>A	ENSP00000262435:p.Arg380Trp					SMURF2_ENST00000578200.1_Intron	p.R380W	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;9.88e-12)		11	1325	-	Breast(5;1.32e-14)		380					Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	c.1138C>T	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858041	0.32791	.	.	ENSG00000108854	ENST00000262435	T	0.44482	0.92	5.82	4.81	0.61882	HECT (1);	0.105160	0.64402	D	0.000007	T	0.69424	0.3109	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75351	-0.3348	10	0.87932	D	0	.	15.0272	0.71680	0.0:0.0:0.6852:0.3148	.	380	Q9HAU4	SMUF2_HUMAN	W	380	ENSP00000262435:R380W	ENSP00000262435:R380W	R	-	1	2	SMURF2	59989425	0.911000	0.30947	1.000000	0.80357	0.954000	0.61252	1.372000	0.34261	2.758000	0.94735	0.650000	0.86243	CGG		0.448	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1	NM_022739		6	363	0	0	0	1	0	6	363					A	62558963	G	A	62558963	3	1	122	1	0	0	0	0	1	0	0	0	14870	1086	38	1	1144	1	SMURF2	17	62558963	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	22978472	62558963	18636247	92	38163											
CDC42EP4	23580	broad.mit.edu	37	chr17	71281656	71281656	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acagcagcccgggccctgtcCggcccccggaaggcagggct	15	17	0	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:71281656C>A	ENST00000335793.3	-	2	1378	c.984G>T	c.(982-984)ccG>ccT	p.P328P	CDC42EP4_ENST00000439510.2_Silent_p.P258P|CDC42EP4_ENST00000581014.1_Nonsense_Mutation_p.G61*			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	328					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)			GGGCCCTGTCCGGCCCCCGGA	0.652																																						ENST00000581014.1																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(181-183)Gga>Tga		CDC42 effector protein (Rho GTPase binding) 4							46	55	52					17																	71281656		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281656C>A	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.984G>T	17.37:g.71281656C>A						CDC42EP4_ENST00000335793.3_Silent_p.P328P|CDC42EP4_ENST00000439510.2_Silent_p.P258P	p.G61*			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		3	397	-			0					B3KUS7|O95828|Q96FT3	Nonsense_Mutation	SNP	ENST00000335793.3	37	c.181G>T	CCDS11695.1																																																																																				0.652	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		6	329	1	0	0.00116845	1	0.00122798	6	329					A	71281656	C	A	71281656	2	1	122	1	0	0	0	0	0	0	0	1	3087	639	23	3		3	CDC42EP4	17	71281656	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	8722693	71281656	9913554	93	38164											
EVPL	2125	broad.mit.edu	37	chr17	74004853	74004853	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccaccgcagggcttccGtggacttctccaggtccggg	14	15	1	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:74004853G>A	ENST00000301607.3	-	22	4686	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	EVPL_ENST00000586740.1_Missense_Mutation_p.T1500M|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1478	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						CAGGGCTTCCGTGGACTTCTC	0.592																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4432-4434)aCg>aTg		envoplakin							139	130	133					17																	74004853		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004853G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4433C>T	17.37:g.74004853G>A	ENSP00000301607:p.Thr1478Met					EVPL_ENST00000586740.1_Missense_Mutation_p.T1500M	p.T1478M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4686	-			1478			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4433C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061342	0.36373	.	.	ENSG00000167880	ENST00000301607	T	0.51071	0.72	4.97	2.95	0.34219	.	0.260239	0.37348	N	0.002130	T	0.56499	0.1989	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.993	P;P	0.60886	0.88;0.557	T	0.43491	-0.9388	10	0.33141	T	0.24	-10.1564	7.5309	0.27683	0.1539:0.1373:0.7088:0.0	.	1500;1478	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1478	ENSP00000301607:T1478M	ENSP00000301607:T1478M	T	-	2	0	EVPL	71516448	0.967000	0.33354	0.054000	0.19295	0.810000	0.45777	4.105000	0.57797	1.081000	0.41110	0.561000	0.74099	ACG		0.592	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		6	606	0	0	0	1	0	6	606					A	74004853	G	A	74004853	3	1	122	1	0	0	0	0	1	0	0	0	5310	1145	40	1	1672	1	EVPL	17	74004853	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	2723197	74004853	7190357	94	38165											
CXXC1	30827	broad.mit.edu	37	chr18	47809025	47809025	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggatcgtctggtgcaGcatcagggccagcaatcccg	14	12	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr18:47809025G>A	ENST00000285106.6	-	15	2623	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	MBD1_ENST00000588937.1_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000269468.5_5'Flank|CXXC1_ENST00000589940.1_3'UTR|CXXC1_ENST00000412036.2_Silent_p.L641L|MBD1_ENST00000424334.2_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000436910.1_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	637					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						GTCTGGTGCAGCATCAGGGCC	0.637																																						ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1909-1911)Ctg>Ttg		CXXC finger protein 1							123	105	111					18																	47809025		2203	4300	6503	SO:0001819	synonymous_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47809025G>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1909C>T	18.37:g.47809025G>A						CXXC1_ENST00000412036.2_Silent_p.L641L|CXXC1_ENST00000589940.1_3'UTR	p.L637L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			15	2623	-			637					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	c.1909C>T	CCDS11945.1																																																																																				0.637	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		5	398	0	0	0	1	0	5	398					A	47809025	G	A	47809025	2	1	122	1	0	0	0	0	0	0	0	1	4108	962	34	2		2	CXXC1	18	47809025	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		47809025	30268223	95	38166											
ZNF554	115196	broad.mit.edu	37	chr19	2834450	2834450	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggattcacaccggggaaaAgccctataaatgtgaagact	11	8	1	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:2834450A>G	ENST00000317243.5	+	5	1415	c.1217A>G	c.(1216-1218)aAg>aGg	p.K406R		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGGAAAAGCCCTATAAA	0.522																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(1216-1218)aAg>aGg		zinc finger protein 554							44	49	47					19																	2834450		2184	4297	6481	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834450A>G	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1217A>G	19.37:g.2834450A>G	ENSP00000321132:p.Lys406Arg						p.K406R	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1415	+		Hepatocellular(1079;0.137)	406					Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1217A>G	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236253	0.58886	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.76	2.76	0.32466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37376	0.1001	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10109	-1.0644	9	0.54805	T	0.06	.	8.9895	0.36014	1.0:0.0:0.0:0.0	.	406	Q86TJ5	ZN554_HUMAN	R	406	ENSP00000321132:K406R	ENSP00000321132:K406R	K	+	2	0	ZNF554	2785450	0.475000	0.25894	0.998000	0.56505	0.649000	0.38597	0.045000	0.14013	1.280000	0.44463	0.467000	0.42956	AAG		0.522	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		4	267	0	0	0	1	0	4	267					G	2834450	A	G	2834450	3	3	122	1	0	0	0	0	1	0	0	0	18038	72	3	4	1235	4	ZNF554	19	2834450	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08		2834450	56294533	96	38167											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		9	278						9	278	---	---	---	---	-	6531151	GCT	-	6531149	7	5	122	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-XN-A8T5-01A-12D-A36O-08	3696699	6531149	52597834	97	38168											
MUC16	94025	broad.mit.edu	37	chr19	9005718	9005718	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtccactctggtggctactcCatccttctcaggcctgggga	11	14	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:9005718C>T	ENST00000397910.4	-	46	39891	c.39688G>A	c.(39688-39690)Gga>Aga	p.G13230R	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13232	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCTACTCCATCCTTCTCA	0.562																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(39688-39690)Gga>Aga		mucin 16, cell surface associated							62	59	60					19																	9005718		2036	4177	6213	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9005718C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39688G>A	19.37:g.9005718C>T	ENSP00000381008:p.Gly13230Arg						p.G13230R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			46	39891	-			13232			SEA 8.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.39688G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.57|11.57	1.678764|1.678764	0.29783|0.29783	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000441155|ENST00000542240	T|.	0.46451|.	0.87|.	3.51|3.51	2.45|2.45	0.29901|0.29901	SEA (1);|.	0.000000|.	0.31472|.	U|.	0.007590|.	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.68593|0.68593	2.085|2.085	.|.	.|.	.|.	D;D|.	0.76494|.	0.971;0.999|.	P;D|.	0.83275|.	0.625;0.996|.	T|T	0.63148|0.63148	-0.6702|-0.6702	9|4	0.87932|.	D|.	0|.	-11.7182|-11.7182	7.3243|7.3243	0.26547|0.26547	0.0:0.8661:0.0:0.1339|0.0:0.8661:0.0:0.1339	.|.	20875;13230|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|I	13230;361|69	ENSP00000381008:G13230R|.	ENSP00000381008:G13230R|.	G|M	-|-	1|3	0|0	MUC16|MUC16	8866718|8866718	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.002000|0.002000	0.02628|0.02628	0.611000|0.611000	0.24268|0.24268	0.742000|0.742000	0.32697|0.32697	0.455000|0.455000	0.32223|0.32223	GGA|ATG		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	194	0	0	0	1	0	10	194					T	9005718	C	T	9005718	3	4	122	1	0	0	0	0	1	0	0	0	10014	603	21	2	3991	2	MUC16	19	9005718	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	2474569	9005718	50123265	98	38169											
PLEKHG2	64857	broad.mit.edu	37	chr19	39907611	39907611	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgaaacctgtccagCgcattctcaagtaccatctg	7	14	2	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:39907611C>T	ENST00000409794.3	+	7	1565	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	239	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTGTCCAGCGCATTCTCAA	0.647																																						ENST00000425673.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(715-717)Cgc>Tgc		pleckstrin homology domain containing, family G (with RhoGef domain) member 2							29	30	30					19																	39907611		2199	4298	6497	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39907611C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.715C>T	19.37:g.39907611C>T	ENSP00000386733:p.Arg239Cys					PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R239C|PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C	p.R239C			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	1040	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		239			DH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.715C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230956	0.79688	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	4.8	4.8	0.61643	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000003	D	0.96426	0.8834	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.981;0.91;0.994;0.997	D	0.97972	1.0344	10	0.87932	D	0	.	17.1606	0.86802	0.0:1.0:0.0:0.0	.	239;239;180;239	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	C	239;239;239;180;239	ENSP00000386733:R239C;ENSP00000392906:R239C;ENSP00000367812:R239C;ENSP00000408857:R180C;ENSP00000386492:R239C	ENSP00000367812:R239C	R	+	1	0	PLEKHG2	44599451	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.587000	0.36622	2.670000	0.90874	0.407000	0.27541	CGC		0.647	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		7	287	0	0	0	1	0	7	287					T	39907611	C	T	39907611	3	4	122	1	0	0	0	0	1	0	0	0	12111	768	27	1	737	1	PLEKHG2	19	39907611	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	30901893	39907611	19221372	99	38170											
RCN3	57333	broad.mit.edu	37	chr19	50040353	50040353	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatgctggctcgggacgagcGgcgtttccgggtggccgacc	18	12	0	0	rs150891366	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:50040353G>A	ENST00000270645.3	+	4	956	c.509G>A	c.(508-510)cGg>cAg	p.R170Q		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	170	EF-hand 3. {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)		CGGGACGAGCGGCGTTTCCGG	0.577													G|||	39	0.00778754	0.0272	0.0043	5008	,	,		15771	0.0		0.0	False		,,,				2504	0.0					ENST00000270645.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(508-510)cGg>cAg		reticulocalbin 3, EF-hand calcium binding domain		G	GLN/ARG	88,4318	74.1+/-112.3	0,88,2115	136	137	136		509	5.1	1	19	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RCN3	NM_020650.2	43	0,90,6413	AA,AG,GG		0.0233,1.9973,0.692	probably-damaging	170/329	50040353	90,12916	2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50040353G>A	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.509G>A	19.37:g.50040353G>A	ENSP00000270645:p.Arg170Gln						p.R170Q	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	4	956	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	170			EF-hand 3.		Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.509G>A	CCDS12771.1	13	0.005952380952380952	10	0.02032520325203252	3	0.008287292817679558	0	0.0	0	0.0	G	36	5.766385	0.96914	0.019973	2.33E-4	ENSG00000142552	ENST00000270645	T	0.55760	0.5	5.05	5.05	0.67936	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.92738	3.34	0.52099	D	0.999948	D	0.89917	1.0	D	0.76575	0.988	T	0.79923	-0.1598	10	0.52906	T	0.07	-35.2375	17.1735	0.86835	0.0:0.0:1.0:0.0	.	170	Q96D15	RCN3_HUMAN	Q	170	ENSP00000270645:R170Q	ENSP00000270645:R170Q	R	+	2	0	RCN3	54732165	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	9.456000	0.97628	2.366000	0.80165	0.313000	0.20887	CGG		0.577	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650		35	897	0	0	0	1	0	35	897					A	50040353	G	A	50040353	3	1	122	1	0	0	0	0	1	0	0	0	13231	1116	39	1	519	1	RCN3	19	50040353	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	10132742	50040353	9088630	100	38171											
NAPSA	9476	broad.mit.edu	37	chr19	50868836	50868838	+	In_Frame_Del	DEL	GCA	GCA	-													aggctccacattcagcagagGcagcagcagcagcaggggtt							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:50868836_50868838delGCA	ENST00000253719.2	-	1	249_251	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	14					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)		TTcagcagaggcagcagcagcag	0.596																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(40-45)cct>c		napsin A aspartic peptidase																																				SO:0001651	inframe_deletion	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868836_50868838delGCA	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.41_43delTGC	19.37:g.50868845_50868847delGCA	ENSP00000253719:p.Leu14del					NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.LP14del	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	249_251	-		all_neural(266;0.057)	14					Q8WWD9	In_Frame_Del	DEL	ENST00000253719.2	37	c.41_43delTGC	CCDS12794.1																																																																																				0.596	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		7	137						7	137	---	---	---	---	-	50868838	GCA	-	50868836	7	5	122	1	0	1	0	1	0	0	0	0	10207	1203	42	0	1255	0	NAPSA	19	50868836	In_Frame_Del	DEL	GCA	TCGA-XN-A8T5-01A-12D-A36O-08	828483	50868836	8260147	101	38172											
ZNF614	80110	broad.mit.edu	37	chr19	52520103	52520103	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gtctgttgtattagttttcaGatgcttagtgaacaggacac	10	6	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:52520103G>A	ENST00000270649.6	-	5	1292	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	250				L -> P (in Ref. 1; BAC04966). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|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)		TTAGTTTTCAGATGCTTAGTG	0.368																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(748-750)Ctg>Ttg		zinc finger protein 614							73	70	71					19																	52520103		2203	4300	6503	SO:0001819	synonymous_variant	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52520103G>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"Zinc fingers, C2H2-type", "-"	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.748C>T	19.37:g.52520103G>A						ZNF614_ENST00000356322.6_Intron	p.L250L	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1292	-		all_neural(266;0.0505)	250	L -> P (in Ref. 1; BAC04966).				Q494T8|Q8TCF4|Q9BSN8	Silent	SNP	ENST00000270649.6	37	c.748C>T	CCDS12847.1																																																																																				0.368	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		15	554	0	0	0	1	0	15	554					A	52520103	G	A	52520103	2	1	122	1	0	0	0	0	0	0	0	1	18092	933	33	2		2	ZNF614	19	52520103	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	1651267	52520103	6608880	102	38173											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493737	20493737	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	attaaatacaaacagctgcaGgtttggacttctgaacacct	7	9	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr20:20493737G>C	ENST00000202677.7	-	32	4283	c.4276C>G	c.(4276-4278)Ctg>Gtg	p.L1426V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1426					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						AACAGCTGCAGGTTTGGACTT	0.537																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(4276-4278)Ctg>Gtg		Ral GTPase activating protein, alpha subunit 2 (catalytic)							53	51	52					20																	20493737		1935	4138	6073	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493737G>C	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.4276C>G	20.37:g.20493737G>C	ENSP00000202677:p.Leu1426Val						p.L1426V	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			32	4418	-			1426					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4276C>G	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232569	0.22626	.	.	ENSG00000188559	ENST00000202677	D	0.95518	-3.73	5.62	1.44	0.22558	.	0.000000	0.64402	D	0.000003	D	0.95831	0.8643	L	0.57536	1.79	0.39079	D	0.960872	B;D;B	0.76494	0.119;0.999;0.34	B;D;B	0.87578	0.074;0.998;0.241	D	0.93616	0.6943	9	.	.	.	.	6.8563	0.24042	0.2006:0.0:0.6743:0.1251	.	1264;1426;1426	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	V	1426	ENSP00000202677:L1426V	.	L	-	1	2	RALGAPA2	20441737	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.455000	0.35190	0.394000	0.25230	0.591000	0.81541	CTG		0.537	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		6	170	0	0	0	1	0	6	170					C	20493737	G	C	20493737	3	2	122	1	0	0	0	0	1	0	0	0	13064	991	35	5	1377	5	RALGAPA2	20	20493737	Missense_Mutation	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		20493737	42531783	103	38174											
ZNF337	26152	broad.mit.edu	37	chr20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-													cacacataggacttctctccTgtgtgtgtgttctggtgcaa					rs200386201		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)acafs	p.T231fs	RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			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						ACTTCTCTCCTGTGTGTGTGTT	0.51																																						ENST00000376436.1																			0				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						c.(691-693)afs		zinc finger protein 337																																				SO:0001589	frameshift_variant	26152							g.chr20:25657231_25657232delTG		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.692_693delCA	20.37:g.25657239_25657240delTG	ENSP00000365619:p.Thr231fs					RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA	p.T231fs							4	1231_1232	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.692_693delCA	CCDS13174.1																																																																																				0.51	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			7	464						7	464	---	---	---	---	-	25657232	TG	-	25657231	7	5	122	1	0	1	0	1	0	0	0	0	17906	1567	55	0	1566	0	ZNF337	20	25657231	Frame_Shift_Del	DEL	TG	TCGA-XN-A8T5-01A-12D-A36O-08	5163494	25657231	37368289	104	38175											
NFATC2	4773	broad.mit.edu	37	chr20	50092010	50092010	+	Frame_Shift_Del	DEL	T	T	-													cttacgttgccctcatgttgTttttgggctccaagggtatc							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr20:50092010delT	ENST00000396009.3	-	4	1739	c.1520delA	c.(1519-1521)aacfs	p.N508fs	NFATC2_ENST00000414705.1_Frame_Shift_Del_p.N488fs|NFATC2_ENST00000371564.3_Frame_Shift_Del_p.N508fs|NFATC2_ENST00000610033.1_Frame_Shift_Del_p.N289fs|NFATC2_ENST00000609507.1_Frame_Shift_Del_p.N289fs|NFATC2_ENST00000609943.1_Frame_Shift_Del_p.N488fs	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	508	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)		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)					CCTCATGTTGTTTTTGGGCTC	0.572																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1519-1521)acfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							180	184	183					20																	50092010		2203	4300	6503	SO:0001589	frameshift_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50092010delT	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.1520delA	20.37:g.50092010delT	ENSP00000379330:p.Asn508fs					NFATC2_ENST00000396009.3_Frame_Shift_Del_p.N508fs|NFATC2_ENST00000414705.1_Frame_Shift_Del_p.N488fs	p.N508fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			4	1739	-	Hepatocellular(150;0.248)		508			RHD.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Del	DEL	ENST00000396009.3	37	c.1520delA	CCDS13437.1																																																																																				0.572	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		9	640						9	640	---	---	---	---	-	50092010	T	-	50092010	7	5	122	1	0	1	0	1	0	0	0	0	10404	1725	60	0	1333	0	NFATC2	20	50092010	Frame_Shift_Del	DEL	T	TCGA-XN-A8T5-01A-12D-A36O-08	24434779	50092010	12933510	105	38176											
ZBED4	9889	broad.mit.edu	37	chr22	50278645	50278645	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agattgtttgaatctggcgcCatcttccagcagaataaaaa	8	8	2	3	rs141708563	byFrequency	TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50278645C>T	ENST00000216268.5	+	2	1812	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	445						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)		AATCTGGCGCCATCTTCCAGC	0.557																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1333-1335)gcC>gcT		zinc finger, BED-type containing 4		C		0,4406		0,0,2203	66	71	69		1335	-10.6	0	22	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZBED4	NM_014838.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		445/1172	50278645	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278645C>T	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.1335C>T	22.37:g.50278645C>T							p.A445A	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1812	+		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)	445					B2RZH1|Q1ECU0|Q9UGG8	Silent	SNP	ENST00000216268.5	37	c.1335C>T	CCDS33677.1																																																																																				0.557	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		46	417	0	0	0	1	0	46	417					T	50278645	C	T	50278645	2	4	122	1	0	0	0	0	0	0	0	1	17573	581	21	2		2	ZBED4	22	50278645	Silent	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08		50278645	1025921	106	38177											
PLXNB2	23654	broad.mit.edu	37	chr22	50720348	50720348	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagttctcaaaggtggggtCaggcacgtactcgaaggccc	14	10	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50720348C>A	ENST00000449103.1	-	20	3420	c.3280G>T	c.(3280-3282)Gac>Tac	p.D1094Y	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y			O15031	PLXB2_HUMAN	plexin B2	1094					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)		AAGGTGGGGTCAGGCACGTAC	0.637																																						ENST00000449103.1																			0				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						c.(3280-3282)Gac>Tac		plexin B2							49	56	54					22																	50720348		2045	4174	6219	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50720348C>A		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.3280G>T	22.37:g.50720348C>A	ENSP00000409171:p.Asp1094Tyr					PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y	p.D1094Y			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	20	3420	-		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)	1094					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.3280G>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508777	0.44660	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.63744	-0.06;-0.06	4.63	4.63	0.57726	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.257954	0.27554	N	0.018860	T	0.77579	0.4151	M	0.72353	2.195	0.58432	D	0.999993	D	0.76494	0.999	D	0.65443	0.935	T	0.80991	-0.1135	10	0.87932	D	0	.	17.6605	0.88192	0.0:1.0:0.0:0.0	.	1094	O15031	PLXB2_HUMAN	Y	1094	ENSP00000409171:D1094Y;ENSP00000352288:D1094Y	ENSP00000352288:D1094Y	D	-	1	0	PLXNB2	49062475	0.989000	0.36119	0.992000	0.48379	0.767000	0.43475	2.830000	0.48136	2.410000	0.81850	0.313000	0.20887	GAC		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		13	237	1	0	7.03913e-09	1	7.95518e-09	13	237					A	50720348	C	A	50720348	3	1	122	1	0	0	0	0	1	0	0	0	12166	826	29	3	2308	3	PLXNB2	22	50720348	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	441703	50720348	584218	107	38178											
REPS2	9185	broad.mit.edu	37	chrX	17153512	17153512	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggcaaccatgaaaccGcatccaacagtccaaaagta	7	13	1	1			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:17153512G>A	ENST00000357277.3	+	16	1962	c.1791G>A	c.(1789-1791)ccG>ccA	p.P597P	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Silent_p.P596P|REPS2_ENST00000380064.4_Silent_p.P396P	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	597	Interaction with ASAP1. {ECO:0000250}.|Interaction with RALBP1.				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)					CCATGAAACCGCATCCAACAG	0.463																																						ENST00000357277.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17						c.(1789-1791)ccG>ccA		RALBP1 associated Eps domain containing 2							140	134	136					X																	17153512		2203	4299	6502	SO:0001819	synonymous_variant	9185				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding	g.chrX:17153512G>A	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.1791G>A	X.37:g.17153512G>A						REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Silent_p.P596P|REPS2_ENST00000380064.4_Silent_p.P396P	p.P597P	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN			16	1962	+	Hepatocellular(33;0.183)		597			Interaction with ASAP1 (By similarity).|Interaction with RALBP1.		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Silent	SNP	ENST00000357277.3	37	c.1791G>A	CCDS14180.2																																																																																				0.463	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316778.1	NM_004726		6	656	0	0	0	1	0	6	656					A	17153512	G	A	17153512	2	1	122	1	0	0	0	0	0	0	0	1	13279	1074	38	1		1	REPS2	23	17153512	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08		17153512	138117048	108	38179											
ZNF645	158506	broad.mit.edu	37	chrX	22291423	22291423	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgctgagaattgaggcGcataaacgaggttctgtctt	12	8	2	2			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:22291423G>A	ENST00000323684.1	+	1	359	c.315G>A	c.(313-315)gcG>gcA	p.A105A		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	105	HYB domain.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						GAATTGAGGCGCATAAACGAG	0.428																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(313-315)gcG>gcA		zinc finger protein 645							83	69	74					X																	22291423		2202	4300	6502	SO:0001819	synonymous_variant	158506					intracellular	zinc ion binding	g.chrX:22291423G>A	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.315G>A	X.37:g.22291423G>A							p.A105A	NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN			1	359	+			105					A0AV29|A0AV31|E3SBK4|Q6DJY9	Silent	SNP	ENST00000323684.1	37	c.315G>A	CCDS14205.1																																																																																				0.428	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		6	629	0	0	0	1	0	6	629					A	22291423	G	A	22291423	2	1	122	1	0	0	0	0	0	0	0	1	18114	1074	38	1		1	ZNF645	23	22291423	Silent	SNP	G	TCGA-XN-A8T5-01A-12D-A36O-08	5137911	22291423	132979137	109	38180											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			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)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	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.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		16	88						16	88	---	---	---	---	-	50350713	TCC	-	50350711	7	5	122	1	0	1	0	1	0	0	0	0	14346	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-XN-A8T5-01A-12D-A36O-08	28059288	50350711	104919849	110	38181											
GNL3L	54552	broad.mit.edu	37	chrX	54578339	54578341	+	In_Frame_Del	DEL	GAA	GAA	-													gcagtggcccaccgtttgggGaagaagaagaagggaggctt							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:54578339_54578341delGAA	ENST00000336470.4	+	12	1252_1254	c.1113_1115delGAA	c.(1111-1116)gggaag>ggg	p.K375del	GNL3L_ENST00000360845.2_In_Frame_Del_p.K375del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	375					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						ACCGTTTGGGGAAGAAGAAGAAG	0.557																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(1111-1116)ggg>gg		guanine nucleotide binding protein-like 3 (nucleolar)-like																																				SO:0001651	inframe_deletion	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54578339_54578341delGAA	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.1113_1115delGAA	X.37:g.54578348_54578350delGAA	ENSP00000338573:p.Lys375del					GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del	p.GK371del	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			12	1252_1254	+			371						In_Frame_Del	DEL	ENST00000336470.4	37	c.1113_1115delGAA	CCDS14360.1																																																																																				0.557	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		8	409						8	409	---	---	---	---	-	54578341	GAA	-	54578339	7	5	122	1	0	1	0	1	0	0	0	0	6567	1161	41	0	1155	0	GNL3L	23	54578339	In_Frame_Del	DEL	GAA	TCGA-XN-A8T5-01A-12D-A36O-08	4227628	54578339	100692221	111	38182											
ACRC	93953	broad.mit.edu	37	chrX	70823856	70823856	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgatgattcggaAgctcccgacgacagcagtga	13	10	0	3			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:70823856A>T	ENST00000373695.1	+	7	1266	c.729A>T	c.(727-729)gaA>gaT	p.E243D	ACRC_ENST00000373696.3_Missense_Mutation_p.E243D			Q96QF7	ACRC_HUMAN	acidic repeat containing	243	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)					ATGATTCGGAAGCTCCCGACG	0.547																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(727-729)gaA>gaT		acidic repeat containing							154	135	141					X																	70823856		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823856A>T	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.729A>T	X.37:g.70823856A>T	ENSP00000362799:p.Glu243Asp					ACRC_ENST00000373696.3_Missense_Mutation_p.E243D	p.E243D			Q96QF7	ACRC_HUMAN			7	1266	+	Renal(35;0.156)		243			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.729A>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	-	2.020	-0.424863	0.04734	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34072	1.38;1.38	0.131	0.131	0.14755	.	.	.	.	.	T	0.12987	0.0315	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31724	-0.9933	9	0.15499	T	0.54	.	4.572	0.12214	0.9995:0.0:5.0E-4:0.0	.	243	Q96QF7	ACRC_HUMAN	D	243	ENSP00000362800:E243D;ENSP00000362799:E243D	ENSP00000362799:E243D	E	+	3	2	ACRC	70740581	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.865000	0.04250	0.134000	0.18681	0.133000	0.15847	GAA		0.547	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			9	1099	0	0	0	1	0	9	1099					T	70823856	A	T	70823856	3	4	122	1	0	0	0	0	1	0	0	0	171	69	3	5	755	5	ACRC	23	70823856	Missense_Mutation	SNP	A	TCGA-XN-A8T5-01A-12D-A36O-08	16245517	70823856	84446704	112	38183											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				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						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	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.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		8	701						8	701	---	---	---	---	-	110406208	GAA	-	110406206	7	5	122	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-XN-A8T5-01A-12D-A36O-08	39582350	110406206	44864354	113	38184											
NKAP	79576	broad.mit.edu	37	chrX	119072752	119072753	+	Frame_Shift_Del	DEL	TC	TC	-													ggagctcccaattctccaatTctctctctctcacttaatct							TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:119072752_119072753delTC	ENST00000371410.3	-	2	573_574	c.407_408delGA	c.(406-408)agafs	p.R136fs	NKAP_ENST00000477789.1_5'Flank	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					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						ATTCTCCAATTCTCTCTCTCTC	0.322																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(406-408)afs		NFKB activating protein																																				SO:0001589	frameshift_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119072752_119072753delTC	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.407_408delGA	X.37:g.119072762_119072763delTC	ENSP00000360464:p.Arg136fs						p.R136fs	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			2	573_574	-			136					Q6IPW6|Q96BQ2|Q9H638	Frame_Shift_Del	DEL	ENST00000371410.3	37	c.407_408delGA	CCDS14592.1																																																																																				0.322	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		7	897						7	897	---	---	---	---	-	119072753	TC	-	119072752	7	5	122	1	0	1	0	1	0	0	0	0	10481	1780	62	0	871	0	NKAP	23	119072752	Frame_Shift_Del	DEL	TC	TCGA-XN-A8T5-01A-12D-A36O-08	8666546	119072752	36197808	114	38185											
GABRQ	55879	broad.mit.edu	37	chrX	151821056	151821056	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctctctccccatcaccccagCgcaggcccccctggcaagcc	7	23	2	0			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:151821056C>T	ENST00000370306.2	+	9	1231	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	404					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCACCCCAGCGCAGGCCCCC	0.582																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1210-1212)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, theta							67	64	65					X																	151821056		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821056C>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	14454	protein-coding gene	gene with protein product	"GABA(A) receptor, theta"	300349	"gamma-aminobutyric acid (GABA) receptor, theta"			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1211C>T	X.37:g.151821056C>T	ENSP00000359329:p.Ala404Val						p.A404V	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1231	+	Acute lymphoblastic leukemia(192;6.56e-05)		404					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1211C>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155193	0.38021	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	4.59	-3.96	0.04106	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.728271	0.11312	N	0.577006	T	0.63271	0.2497	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.50651	-0.8803	10	0.18276	T	0.48	.	1.1737	0.01831	0.1361:0.3019:0.2665:0.2954	.	404	Q9UN88	GBRT_HUMAN	V	404	ENSP00000359329:A404V	ENSP00000359329:A404V	A	+	2	0	GABRQ	151571712	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	0.022000	0.13511	-0.993000	0.03467	0.600000	0.82982	GCG		0.582	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		22	378	0	0	0	1	0	22	378					T	151821056	C	T	151821056	3	4	122	1	0	0	0	0	1	0	0	0	6202	768	27	1	1245	1	GABRQ	23	151821056	Missense_Mutation	SNP	C	TCGA-XN-A8T5-01A-12D-A36O-08	32748304	151821056	3449504	115	38186											
KIF1B	23095	broad.mit.edu	37	chr1	10434488	10434488	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcaggaaaaaacgaatttctCaatcttgttccagatattga	7	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:10434488C>A	ENST00000377086.1	+	46	5263	c.5061C>A	c.(5059-5061)ctC>ctA	p.L1687L	KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					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)		ACGAATTTCTCAATCTTGTTC	0.433																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(5059-5061)ctC>ctA		kinesin family member 1B							85	91	89					1																	10434488		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10434488C>A	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.5061C>A	1.37:g.10434488C>A						KIF1B_ENST00000263934.6_Silent_p.L1641L|KIF1B_ENST00000377081.1_Silent_p.L1687L	p.L1687L			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	46	5263	+	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)	1687					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.5061C>A																																																																																					0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			14	726	1	0	5.01169e-05	5.01169e-05	0.00428325	14	726					A	10434488	C	A	10434488	2	1	123	1	0	0	0	0	0	0	0	1	8314	813	29	3		3	KIF1B	1	10434488	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		10434488	238816133	1	38187											
EXOSC10	5394	broad.mit.edu	37	chr1	11129707	11129707	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tttggcttcttggaaattttGagtcgtttcttctcttgttt	8	6	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:11129707G>T	ENST00000376936.4	-	22	2446	c.2397C>A	c.(2395-2397)ctC>ctA	p.L799L	EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Silent_p.L774L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	799					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGAAATTTTGAGTCGTTTCT	0.468																																					Colon(179;105 1987 14326 27364 29542)	ENST00000376936.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(2395-2397)ctC>ctA		exosome component 10							426	443	437					1																	11129707		2203	4300	6503	SO:0001819	synonymous_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11129707G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2397C>A	1.37:g.11129707G>T						RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000544779.1_3'UTR|EXOSC10_ENST00000304457.7_Silent_p.L774L	p.L799L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	22	2446	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	799					B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	c.2397C>A	CCDS30584.1																																																																																				0.468	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		18	2210	1	0	6.40141e-05	6.40141e-05	0.00606515	18	2210					T	11129707	G	T	11129707	2	4	123	1	0	0	0	0	0	0	0	1	5332	1277	45	3		3	EXOSC10	1	11129707	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	695219	11129707	238120914	2	38188											
PRDM2	7799	broad.mit.edu	37	chr1	14107823	14107823	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	taaggataaaacggacttgtCagaacatcgctttttgcttc	8	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:14107823C>A	ENST00000235372.7	+	8	4389	c.3533C>A	c.(3532-3534)tCa>tAa	p.S1178*	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1178					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)		ACGGACTTGTCAGAACATCGC	0.363																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3532-3534)tCa>tAa		PR domain containing 2, with ZNF domain							107	106	107					1																	14107823		2203	4300	6503	SO:0001587	stop_gained	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107823C>A	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.3533C>A	1.37:g.14107823C>A	ENSP00000235372:p.Ser1178*					PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*	p.S1178*	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4389	+	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)	1178					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Nonsense_Mutation	SNP	ENST00000235372.7	37	c.3533C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	41	8.666899	0.98908	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	.	.	.	5.97	5.97	0.96955	.	0.079867	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	18.9918	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	1178;1178;1178;977;977	.	ENSP00000235372:S1178X	S	+	2	0	PRDM2	13980410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.592000	0.67543	2.837000	0.97791	0.655000	0.94253	TCA		0.363	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		11	791	1	0	6.40141e-05	6.40141e-05	0.00496729	11	791					A	14107823	C	A	14107823	4	1	123	1	0	0	0	0	0	1	0	0	12505	838	29	3	3559	3	PRDM2	1	14107823	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2978116	14107823	235142798	3	38189											
KIAA0090	23065	broad.mit.edu	37	chr1	19567555	19567555	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	acattaaacttgacaatgttCacatggctgaagggaacaac	8	8	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:19567555C>A	ENST00000477853.1	-	6	633	c.591G>T	c.(589-591)gtG>gtT	p.V197V	EMC1_ENST00000375208.3_Silent_p.V175V|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.V197V	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	197						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGACAATGTTCACATGGCTGA	0.502											OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000477853.1																			0											c.(589-591)gtG>gtT		ER membrane protein complex subunit 1							154	153	154					1																	19567555		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19567555C>A		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.591G>T	1.37:g.19567555C>A			OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	734	EMC1_ENST00000375199.3_Silent_p.V197V|EMC1_ENST00000375208.3_Silent_p.V175V	p.V197V	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					6	633	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.591G>T	CCDS190.1																																																																																				0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		17	655	1	0	5.3912e-06	7.07596e-05	0.000617672	17	655					A	19567555	C	A	19567555	2	1	123	1	0	0	0	0	0	0	0	1	8183	813	29	3		3	KIAA0090	1	19567555	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5459732	19567555	229683066	4	38190											
FAM54B	56181	broad.mit.edu	37	chr1	26156118	26156118	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttgtcattagtgacatcacCgaggagacagaggtggaggt	14	6	2	3	rs199554729		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26156118C>A	ENST00000374301.3	+	6	878	c.570C>A	c.(568-570)acC>acA	p.T190T	MTFR1L_ENST00000524618.1_Silent_p.T93T|MTFR1L_ENST00000374307.5_Silent_p.T178T|MTFR1L_ENST00000374303.2_Silent_p.T190T|MTFR1L_ENST00000526894.1_Intron|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000374300.3_Silent_p.T190T|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_Missense_Mutation_p.P154Q	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	190																	GTGACATCACCGAGGAGACAG	0.478																																						ENST00000466284.1																			0											c.(460-462)cCg>cAg		mitochondrial fission regulator 1-like							210	188	195					1																	26156118		1918	4136	6054	SO:0001819	synonymous_variant	56181							g.chr1:26156118C>A		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"family with sequence similarity 54, member B"	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.570C>A	1.37:g.26156118C>A						MTFR1L_ENST00000374300.3_Silent_p.T190T|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000374307.5_Silent_p.T178T|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374301.3_Silent_p.T190T|MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000524618.1_Silent_p.T93T|MTFR1L_ENST00000374303.2_Silent_p.T190T	p.P154Q							5	2043	+								A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.461C>A	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555163	0.45487	.	.	ENSG00000117640	ENST00000474295;ENST00000466284	T;T	0.41758	0.99;0.99	6.17	-5.74	0.02391	.	.	.	.	.	T	0.17152	0.0412	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	8	0.11794	T	0.64	0.2996	4.451	0.11621	0.1308:0.3155:0.0696:0.4841	.	154	Q9H019-2	.	Q	154	ENSP00000435461:P154Q;ENSP00000434751:P154Q	ENSP00000434751:P154Q	P	+	2	0	FAM54B	26028705	0.002000	0.14202	0.664000	0.29753	0.997000	0.91878	-1.661000	0.01972	-0.841000	0.04200	0.655000	0.94253	CCG		0.478	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		8	751	1	0	0.000157383	0.000157383	0.00973904	8	751					A	26156118	C	A	26156118	2	1	123	1	0	0	0	0	0	0	0	1	5608	652	23	3		3	FAM54B	1	26156118	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6588563	26156118	223094503	5	38191											
CATSPER4	378807	broad.mit.edu	37	chr1	26524785	26524785	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tctctctgacaggttttttcCgtgtttggagtaacactctt	8	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26524785C>A	ENST00000456354.2	+	6	754	c.687C>A	c.(685-687)tcC>tcA	p.S229S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTTTTTCCGTGTTTGGAG	0.493																																						ENST00000456354.2																			1	Substitution - coding silent(1)	p.S229S(1)	lung(1)	NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(685-687)tcC>tcA		cation channel, sperm associated 4							290	303	298					1																	26524785		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524785C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.687C>A	1.37:g.26524785C>A							p.S229S	NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	754	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	229					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.687C>A	CCDS30645.1																																																																																				0.493	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	NM_198137		12	1506	1	0	1.58986e-06	3.86212e-05	0.000199287	12	1506					A	26524785	C	A	26524785	2	1	123	1	0	0	0	0	0	0	0	1	2697	639	23	3		3	CATSPER4	1	26524785	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	368667	26524785	222725836	6	38192											
EPB41	2035	broad.mit.edu	37	chr1	29359683	29359683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aagataagctgagaattaacCgcttcccttggcccaaagtg	9	10	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:29359683C>A	ENST00000343067.4	+	9	1418	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000373800.3_Missense_Mutation_p.R222S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	431	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAGAATTAACCGCTTCCCTTG	0.408																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1291-1293)Cgc>Agc		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							115	112	113					1																	29359683		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29359683C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1291C>A	1.37:g.29359683C>A	ENSP00000345259:p.Arg431Ser					EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000373800.3_Missense_Mutation_p.R222S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S	p.R431S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	9	1418	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	431			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1291C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991544	0.93106	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.97	5.97	0.96955	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	L	0.39566	1.225	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.859;0.997;0.999;0.991;0.996;1.0;0.986;0.998;1.0	D;P;D;D;P;P;D;P;D;D	0.91635	0.99;0.765;0.932;0.984;0.83;0.888;0.999;0.895;0.984;0.999	D	0.89328	0.3645	10	0.87932	D	0	.	14.2724	0.66159	0.1486:0.8514:0.0:0.0	.	325;431;431;431;431;431;448;396;222;222	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	S	448;431;431;431;325;431;222;222;396;431;431	ENSP00000345259:R431S;ENSP00000348397:R431S;ENSP00000381839:R431S;ENSP00000317597:R222S;ENSP00000362906:R222S;ENSP00000290100:R396S;ENSP00000362904:R431S;ENSP00000362903:R431S	ENSP00000345259:R431S	R	+	1	0	EPB41	29232270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.696000	0.61774	2.834000	0.97654	0.650000	0.86243	CGC		0.408	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		7	462	1	0	0.000157383	0.000157383	0.00973904	7	462					A	29359683	C	A	29359683	3	1	123	1	0	0	0	0	1	0	0	0	5169	652	23	3	1321	3	EPB41	1	29359683	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2834898	29359683	219890938	7	38193											
CLSPN	63967	broad.mit.edu	37	chr1	36204980	36204980	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actgacatgtgtattttcttGatttgactctgcagttcctc	7	9	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:36204980G>T	ENST00000318121.3	-	19	3351	c.3294C>A	c.(3292-3294)atC>atA	p.I1098I	CLSPN_ENST00000251195.5_Silent_p.I1098I|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000520551.1_Silent_p.I1045I|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1098					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)				GTATTTTCTTGATTTGACTCT	0.408																																						ENST00000251195.5																			0				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						c.(3292-3294)atC>atA		claspin							252	231	238					1																	36204980		2203	4300	6503	SO:0001819	synonymous_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36204980G>T	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.3294C>A	1.37:g.36204980G>T						CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000318121.3_Silent_p.I1098I|CLSPN_ENST00000520551.1_Silent_p.I1045I	p.I1098I			Q9HAW4	CLSPN_HUMAN			19	3390	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1098					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	ENST00000318121.3	37	c.3294C>A	CCDS396.1																																																																																				0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		12	882	1	0	0.000151284	0.000151284	0.00973904	12	882					T	36204980	G	T	36204980	2	4	123	1	0	0	0	0	0	0	0	1	3569	1280	45	3		3	CLSPN	1	36204980	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6845297	36204980	213045641	8	38194											
CDCA8	55143	broad.mit.edu	37	chr1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-													atgaaatgatagtggaagagGaagaagaagaagaaaatgaa							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)gaadel	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|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)				AGTGGAAGAGGAAGAAGAAGAAG	0.384																																						ENST00000373055.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11						c.(379-381)del		cell division cycle associated 8				3,4263		1,1,2131						-1.9	1			132	3,8251		0,3,4124	no	coding	CDCA8	NM_018101.2		1,4,6255	A1A1,A1R,RR		0.0363,0.0703,0.0479				6,12514				SO:0001651	inframe_deletion	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38166149_38166151delGAA	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.379_381delGAA	1.37:g.38166158_38166160delGAA	ENSP00000362146:p.Glu131del					CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN			5	652_654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	131			Poly-Glu.|Required for interaction with SENP3.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	In_Frame_Del	DEL	ENST00000373055.1	37	c.379_381delGAA	CCDS424.1																																																																																				0.384	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		7	987						7	987	---	---	---	---	-	38166151	GAA	-	38166149	7	5	123	1	0	1	0	1	0	0	0	0	3101	1175	41	0	397	0	CDCA8	1	38166149	In_Frame_Del	DEL	GAA	TCGA-YB-A89D-01A-12D-A36O-08	1961169	38166149	211084472	9	38195											
WDR78	79819	broad.mit.edu	37	chr1	67337143	67337143	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catcctttcaacatataggtCattgcctaatctgtttctac	4	11	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:67337143C>A	ENST00000371026.3	-	6	905	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	284					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATATAGGTCATTGCCTAAT	0.318																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(850-852)Gac>Tac		WD repeat domain 78							159	157	158					1																	67337143		2202	4297	6499	SO:0001583	missense	79819							g.chr1:67337143C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.850G>T	1.37:g.67337143C>A	ENSP00000360065:p.Asp284Tyr					WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y|WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y	p.D284Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN			6	905	-			284					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.850G>T	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.507082|2.507082	0.44558|0.44558	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022|ENST00000469450	T;T;T;T;T|.	0.79554|.	-0.23;-1.28;-0.66;1.57;0.19|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.047040|.	0.85682|.	D|.	0.000000|.	T|.	0.79417|.	0.4442|.	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.994;0.994|.	T|.	0.79349|.	-0.1840|.	10|.	0.87932|.	D|.	0|.	-28.0743|-28.0743	18.9441|18.9441	0.92615|0.92615	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	30;284;284;284|.	Q5VTH9-3;Q5TAD8;A0AVI9;Q5VTH9|.	.;.;.;WDR78_HUMAN|.	Y|L	284;30;50;284;284|17	ENSP00000360065:D284Y;ENSP00000393182:D30Y;ENSP00000433682:D50Y;ENSP00000360062:D284Y;ENSP00000360061:D284Y|.	ENSP00000360061:D284Y|.	D|X	-|-	1|2	0|2	WDR78|WDR78	67109731|67109731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.063000|0.063000	0.16089|0.16089	4.342000|4.342000	0.59341|0.59341	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		83	819	1	0	1.45872e-26	0.000147903	2.17411e-24	83	819					A	67337143	C	A	67337143	3	1	123	1	0	0	0	0	1	0	0	0	17382	826	29	3	1801	3	WDR78	1	67337143	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	29170994	67337143	181913478	10	38196											
ACADM	34	broad.mit.edu	37	chr1	76198337	76198337	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	attttcccttagagttcaccGaacagcagaaagaatttcaa	6	9	2	3	rs147559466	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:76198337G>T	ENST00000370841.4	+	3	564	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	ACADM_ENST00000541113.1_Nonsense_Mutation_p.E7*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.E47*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.E43*|ACADM_ENST00000543667.1_5'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	43					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	AGAGTTCACCGAACAGCAGAA	0.358																																						ENST00000370841.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18	GRCh37	CM042915	ACADM	M	rs147559466	c.(127-129)Gaa>Taa		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							90	103	99					1																	76198337		2202	4300	6502	SO:0001587	stop_gained	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76198337G>T	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.127G>T	1.37:g.76198337G>T	ENSP00000359878:p.Glu43*					ACADM_ENST00000370834.5_Nonsense_Mutation_p.E43*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.E7*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.E47*|ACADM_ENST00000543667.1_5'UTR	p.E43*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN			3	564	+			43					Q5T4U4|Q9NYF1	Nonsense_Mutation	SNP	ENST00000370841.4	37	c.127G>T	CCDS668.1	.	.	.	.	.	.	.	.	.	.	G	41	8.742409	0.98937	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000420607	.	.	.	5.77	5.77	0.91146	.	0.048472	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.5899	0.95506	0.0:0.0:1.0:0.0	.	.	.	.	X	43;43;7;47	.	ENSP00000359871:E43X	E	+	1	0	ACADM	75970925	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	7.319000	0.79040	2.720000	0.93068	0.650000	0.86243	GAA		0.358	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1			12	682	1	0	1.49906e-05	1.49906e-05	0.00153956	12	682					T	76198337	G	T	76198337	4	4	123	1	0	0	0	0	0	1	0	0	113	1059	37	3	149	3	ACADM	1	76198337	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	8861194	76198337	173052284	11	38197											
GBP3	2635	broad.mit.edu	37	chr1	89486281	89486283	+	In_Frame_Del	DEL	CCA	CCA	-													gcggtagaggcccacaattgCcaccaccaccacaggctgtg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:89486281_89486283delCCA	ENST00000370481.4	-	2	342_344	c.122_124delTGG	c.(121-126)gtggca>gca	p.V41del	GBP3_ENST00000475853.2_5'UTR|Y_RNA_ENST00000365515.1_RNA	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	70					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCACAATTGCCACCACCACCAC	0.517																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(121-126)gca>g		guanylate binding protein 3																																				SO:0001651	inframe_deletion	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89486281_89486283delCCA	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.122_124delTGG	1.37:g.89486290_89486292delCCA	ENSP00000359512:p.Val41del					GBP3_ENST00000475853.2_5'UTR	p.VA41del	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	2	342_344	-		Lung NSC(277;0.123)	41					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	In_Frame_Del	DEL	ENST00000370481.4	37	c.122_124delTGG	CCDS717.2																																																																																				0.517	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		8	637						8	637	---	---	---	---	-	89486283	CCA	-	89486281	7	5	123	1	0	1	0	1	0	0	0	0	6303	739	26	0	1703	0	GBP3	1	89486281	In_Frame_Del	DEL	CCA	TCGA-YB-A89D-01A-12D-A36O-08	13287944	89486281	159764340	12	38198											
BRDT	676	broad.mit.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-													atgtttcccgactgagtgagAgcagcagcagcagcagcagc					rs375773077		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				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)		ACTGAGTGAGagcagcagcagca	0.419																																						ENST00000370389.2																			0				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						c.(1699-1701)del		bromodomain, testis-specific																																				SO:0001651	inframe_deletion	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92447228_92447230delAGC	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.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del					BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	p.S575del	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	12	2623_2625	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	648					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	ENST00000362005.3	37	c.1699_1701delAGC	CCDS735.1																																																																																				0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		7	510						7	510	---	---	---	---	-	92447230	AGC	-	92447228	7	5	123	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-YB-A89D-01A-12D-A36O-08	2960947	92447228	156803393	13	38199											
CCDC76	54482	broad.mit.edu	37	chr1	100602634	100602634	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atgtaactcaagagagaaacCaaaacctgtaagtgtttgat	8	6	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:100602634C>A	ENST00000370141.2	+	3	260	c.254C>A	c.(253-255)cCa>cAa	p.P85Q	TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q|TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	85					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGAGAGAAACCAAAACCTGTA	0.338																																						ENST00000370141.2																			0											c.(253-255)cCa>cAa		tRNA methyltransferase 13 homolog (S. cerevisiae)							83	87	86					1																	100602634		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100602634C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.254C>A	1.37:g.100602634C>A	ENSP00000359160:p.Pro85Gln					TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q|TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q	p.P85Q	NM_019083.2	NP_061956.2					3	260	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.254C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326621	0.81690	.	.	ENSG00000122435	ENST00000370143;ENST00000370141;ENST00000370139	T;T;T	0.42513	1.03;1.02;0.97	5.78	5.78	0.91487	.	0.048914	0.85682	D	0.000000	T	0.52757	0.1754	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.73380	0.88;0.98	T	0.30995	-0.9959	10	0.23302	T	0.38	-10.4814	19.5995	0.95554	0.0:1.0:0.0:0.0	.	85;85	B4DQS9;Q9NUP7	.;TRM13_HUMAN	Q	85;85;54	ENSP00000359162:P85Q;ENSP00000359160:P85Q;ENSP00000359158:P54Q	ENSP00000359158:P54Q	P	+	2	0	CCDC76	100375222	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.923000	0.75817	2.714000	0.92807	0.650000	0.86243	CCA		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		13	907	1	0	1.58986e-06	3.86212e-05	0.000199287	13	907					A	100602634	C	A	100602634	3	1	123	1	0	0	0	0	1	0	0	0	2857	594	21	3	264	3	CCDC76	1	100602634	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	8155406	100602634	148647987	14	38200											
CSDE1	7812	broad.mit.edu	37	chr1	115282502	115282502	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttgtggagaaggtttggatCaaagctcatctgttttaaaa	11	4	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115282502C>A	ENST00000358528.4	-	3	436	c.10G>T	c.(10-12)Gat>Tat	p.D4Y	CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000438362.2_Missense_Mutation_p.D50Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	4					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)		AGGTTTGGATCAAAGCTCATC	0.343																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(148-150)Gat>Tat		cold shock domain containing E1, RNA-binding							225	233	230					1																	115282502		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115282502C>A		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.10G>T	1.37:g.115282502C>A	ENSP00000351329:p.Asp4Tyr					CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000530886.1_Intron	p.D50Y	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	526	-	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)	4			CSD 1.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.148G>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695537	0.68386	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878;ENST00000525970	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.71167	-0.4672	9	0.87932	D	0	-4.3184	20.4324	0.99085	0.0:1.0:0.0:0.0	.	50;4;50	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Y	4;50;4;4;50;4;4;4;4	.	ENSP00000261443:D4Y	D	-	1	0	CSDE1	115084025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	GAT		0.343	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		16	1384	1	0	1.49906e-05	1.49906e-05	0.00153956	16	1384					A	115282502	C	A	115282502	3	1	123	1	0	0	0	0	1	0	0	0	3940	826	29	3	2458	3	CSDE1	1	115282502	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	14679868	115282502	133968119	15	38201											
SYCP1	6847	broad.mit.edu	37	chr1	115455754	115455754	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgaccctagaactcaagaatCagcaagaagatattaatgtg	8	7	2	5			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115455754C>A	ENST00000369522.3	+	19	1870	c.1630C>A	c.(1630-1632)Cag>Aag	p.Q544K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	544					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)		ACTCAAGAATCAGCAAGAAGA	0.368																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1630-1632)Cag>Aag		synaptonemal complex protein 1							102	109	107					1																	115455754		2203	4298	6501	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115455754C>A	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.1630C>A	1.37:g.115455754C>A	ENSP00000358535:p.Gln544Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	p.Q544K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	1870	+	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)	544					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1630C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513309	0.27123	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.42900	0.96;0.96;0.96	5.34	4.42	0.53409	.	0.643340	0.15076	N	0.281944	T	0.16041	0.0386	L	0.36672	1.1	0.20926	N	0.99982	B;B	0.23128	0.08;0.08	B;B	0.23018	0.043;0.043	T	0.04191	-1.0970	10	0.27785	T	0.31	1.0825	10.3177	0.43747	0.0:0.9063:0.0:0.0937	.	544;544	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	544	ENSP00000358535:Q544K;ENSP00000410011:Q544K;ENSP00000358531:Q544K	ENSP00000358531:Q544K	Q	+	1	0	SYCP1	115257277	0.525000	0.26290	1.000000	0.80357	0.739000	0.42172	1.046000	0.30354	2.476000	0.83614	0.655000	0.94253	CAG		0.368	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		11	665	1	0	0.00010058	0.00010058	0.0072096	11	665					A	115455754	C	A	115455754	3	1	123	1	0	0	0	0	1	0	0	0	15483	827	29	3	1700	3	SYCP1	1	115455754	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	173252	115455754	133794867	16	38202											
NGF	4803	broad.mit.edu	37	chr1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtctgccccgccacgcGtgcagctatcgccgctgccg	14	18	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					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)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48	48	48					1																	115829233		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829233G>A		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.184C>T	1.37:g.115829233G>A	ENSP00000358525:p.Arg62Cys					RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		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)	3	352	-	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)	62					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.184C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	NGF	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC		0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		6	220	0	0	0	3.59834e-05	0	6	220					A	115829233	G	A	115829233	3	1	123	1	0	0	0	0	1	0	0	0	10437	1145	40	1	545	1	NGF	1	115829233	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	373479	115829233	133421388	17	38203											
SPAG17	200162	broad.mit.edu	37	chr1	118598506	118598506	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttcttttgtaatccaatcttGaatagattttgcaacaagtt	5	6	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118598506G>T	ENST00000336338.5	-	19	2637	c.2572C>A	c.(2572-2574)Caa>Aaa	p.Q858K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	858						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)		ATCCAATCTTGAATAGATTTT	0.323																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2572-2574)Caa>Aaa		sperm associated antigen 17							99	103	101					1																	118598506		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118598506G>T		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.2572C>A	1.37:g.118598506G>T	ENSP00000337804:p.Gln858Lys						p.Q858K	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	19	2637	-	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)	858					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2572C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803426	0.31869	.	.	ENSG00000155761	ENST00000336338	T	0.29655	1.56	5.35	3.41	0.39046	.	0.697933	0.14968	N	0.287983	T	0.16171	0.0389	L	0.47716	1.5	0.21878	N	0.999499	P	0.40180	0.705	B	0.41510	0.359	T	0.03993	-1.0986	10	0.45353	T	0.12	.	13.3002	0.60321	0.0:0.4907:0.5093:0.0	.	858	Q6Q759	SPG17_HUMAN	K	858	ENSP00000337804:Q858K	ENSP00000337804:Q858K	Q	-	1	0	SPAG17	118400029	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	1.567000	0.36407	0.770000	0.33336	0.585000	0.79938	CAA		0.323	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		12	842	1	0	0.00010058	0.00010058	0.0072096	12	842					T	118598506	G	T	118598506	3	4	123	1	0	0	0	0	1	0	0	0	15031	1299	45	3	4219	3	SPAG17	1	118598506	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2769273	118598506	130652115	18	38204											
SPAG17	200162	broad.mit.edu	37	chr1	118616493	118616493	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	atacctgaagcagtactttcGgtttaaaatgttcagtaaaa	7	6	1	1	rs146282295		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118616493G>T	ENST00000336338.5	-	17	2434	c.2369C>A	c.(2368-2370)cCg>cAg	p.P790Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	790						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)		CAGTACTTTCGGTTTAAAATG	0.428																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2368-2370)cCg>cAg		sperm associated antigen 17							164	156	159					1																	118616493		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118616493G>T		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.2369C>A	1.37:g.118616493G>T	ENSP00000337804:p.Pro790Gln						p.P790Q	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	17	2434	-	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)	790					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2369C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828388	0.71143	.	.	ENSG00000155761	ENST00000336338	T	0.28454	1.61	5.35	5.35	0.76521	.	0.100758	0.64402	D	0.000001	T	0.50871	0.1641	M	0.71581	2.175	0.37958	D	0.932887	D	0.89917	1.0	D	0.91635	0.999	T	0.54275	-0.8318	10	0.72032	D	0.01	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	790	Q6Q759	SPG17_HUMAN	Q	790	ENSP00000337804:P790Q	ENSP00000337804:P790Q	P	-	2	0	SPAG17	118418016	1.000000	0.71417	0.954000	0.39281	0.901000	0.52897	5.245000	0.65405	2.669000	0.90835	0.650000	0.86243	CCG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		10	633	1	0	6.40141e-05	6.40141e-05	0.00496729	10	633					T	118616493	G	T	118616493	3	4	123	1	0	0	0	0	1	0	0	0	15031	1116	39	3	4430	3	SPAG17	1	118616493	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17987	118616493	130634128	19	38205											
SPAG17	200162	broad.mit.edu	37	chr1	118693199	118693199	+	Frame_Shift_Del	DEL	T	T	-													ggagcattaccacctacaggTttttttgcctttttagatga							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr1:118693199delT	ENST00000336338.5	-	3	347	c.282delA	c.(280-282)aaafs	p.K94fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	94						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)		CACCTACAGGTTTTTTTGCCT	0.254																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(280-282)aafs		sperm associated antigen 17							71	73	72					1																	118693199		2199	4287	6486	SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118693199delT		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.282delA	1.37:g.118693199delT	ENSP00000337804:p.Lys94fs						p.K94fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	3	347	-	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)	94					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.282delA	CCDS899.1																																																																																				0.254	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	1092						7	1092	---	---	---	---	-	118693199	T	-	118693199	7	5	123	1	0	1	0	1	0	0	0	0	15031	1722	60	0	6573	0	SPAG17	1	118693199	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	76706	118693199	130557422	20	38206											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgttgtgctcctcacActctgaaaaaagacaaagat	9	9	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|AL138796.1_ENST00000582173.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.C1297R(2)		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)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)	p.C1297R(2)	lung(2)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4297-4299)Tgt>Cgt		phosphodiesterase 4D interacting protein							46	49	48					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	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.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R	p.C1433R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4335	-			1297					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4297T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	559	0	0	0	4.16121e-05	0	8	559					G	144879561	A	G	144879561	3	3	123	1	0	0	0	0	1	0	0	0	11685	159	6	4	3223	4	PDE4DIP	1	144879561	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	26186362	144879561	104371060	21	38207											
FLG2	388698	broad.mit.edu	37	chr1	152324334	152324334	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tagtgagatccagcttgaccGtgagtgtgtcctgaatgtgt	13	7	0	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:152324334G>A	ENST00000388718.5	-	3	6000	c.5928C>T	c.(5926-5928)caC>caT	p.H1976H	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1976					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)			CAGCTTGACCGTGAGTGTGTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5926-5928)caC>caT		filaggrin family member 2							371	343	352					1																	152324334		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324334G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5928C>T	1.37:g.152324334G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1976H	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6000	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1976					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.5928C>T	CCDS30861.1																																																																																				0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1340	0	0	0	1.23904e-05	0	9	1340					A	152324334	G	A	152324334	2	1	123	1	0	0	0	0	0	0	0	1	5948	1136	40	1		1	FLG2	1	152324334	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7444773	152324334	96926287	22	38208											
ASH1L	55870	broad.mit.edu	37	chr1	155447701	155447701	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caaagtctgtactgccctttCgttagaaggcagtgactcct	9	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155447701C>A	ENST00000368346.3	-	3	5599	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1654	Ser-rich.				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)			ACTGCCCTTTCGTTAGAAGGC	0.428																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4960-4962)Gaa>Taa		ash1 (absent, small, or homeotic)-like (Drosophila)							71	76	74					1																	155447701		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447701C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4960G>T	1.37:g.155447701C>A	ENSP00000357330:p.Glu1654*					ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*	p.E1654*			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5599	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1654			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.4960G>T		.	.	.	.	.	.	.	.	.	.	C	49	15.116674	0.99823	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.44	5.44	0.79542	.	0.067417	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	1654	.	ENSP00000357330:E1654X	E	-	1	0	ASH1L	153714325	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	4.846000	0.62860	2.832000	0.97577	0.655000	0.94253	GAA		0.428	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		10	864	1	0	6.40141e-05	6.40141e-05	0.00496729	10	864					A	155447701	C	A	155447701	4	1	123	1	0	0	0	0	0	1	0	0	1042	893	31	3	4038	3	ASH1L	1	155447701	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3123367	155447701	93802920	23	38209											
GON4L	54856	broad.mit.edu	37	chr1	155743000	155743000	+	Splice_Site	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcaaacagggaaattcattCgctataagaaaataaatctc	7	7	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155743000C>A	ENST00000368331.1	-	18	2400	c.2352G>T	c.(2350-2352)gcG>gcT	p.A784A	GON4L_ENST00000271883.5_Splice_Site_p.A784A|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Splice_Site_p.A784A|GON4L_ENST00000361040.5_Splice_Site_p.A784A	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	784					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)					GAAATTCATTCGCTATAAGAA	0.408																																						ENST00000437809.1																			0				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						c.e18-1		gon-4-like (C. elegans)							74	72	73					1																	155743000		2203	4300	6503	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155743000C>A	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.2351-1G>T	1.37:g.155743000C>A						GON4L_ENST00000271883.5_Splice_Site_p.A784_splice|GON4L_ENST00000361040.5_Splice_Site_p.A784_splice|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Splice_Site_p.A784_splice	p.A784_splice			Q3T8J9	GON4L_HUMAN			18	2474	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		784					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37	c.2350_splice																																																																																					0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292	Silent	9	483	1	0	3.86212e-05	3.86212e-05	0.00332401	9	483					A	155743000	C	A	155743000	5	1	123	1	0	0	0	0	0	0	1	0	6601	898	31	3	4547	3	GON4L	1	155743000	Splice_Site	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	295299	155743000	93507621	24	38210											
IQGAP3	128239	broad.mit.edu	37	chr1	156510545	156510545	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcaggccaatcttgatgtcCatgatgttgaggtcctgctc	11	10	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:156510545C>A	ENST00000361170.2	-	23	2704	c.2694G>T	c.(2692-2694)atG>atT	p.M898I	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	898					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)					TCTTGATGTCCATGATGTTGA	0.562																																						ENST00000361170.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2692-2694)atG>atT		IQ motif containing GTPase activating protein 3							174	127	143					1																	156510545		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156510545C>A	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.2694G>T	1.37:g.156510545C>A	ENSP00000354451:p.Met898Ile						p.M898I	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN			23	2704	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		898					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2694G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737875	0.89573	.	.	ENSG00000183856	ENST00000361170	T	0.03035	4.07	4.8	4.8	0.61643	.	0.046269	0.85682	D	0.000000	T	0.13072	0.0317	M	0.86740	2.835	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.00238	-1.1889	10	0.72032	D	0.01	-21.3897	15.4029	0.74855	0.0:1.0:0.0:0.0	.	898	Q86VI3	IQGA3_HUMAN	I	898	ENSP00000354451:M898I	ENSP00000354451:M898I	M	-	3	0	IQGAP3	154777169	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.483000	0.83821	0.655000	0.94253	ATG		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		9	425	1	0	3.86212e-05	3.86212e-05	0.00332401	9	425					A	156510545	C	A	156510545	3	1	123	1	0	0	0	0	1	0	0	0	7846	594	21	3	2265	3	IQGAP3	1	156510545	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	767545	156510545	92740076	25	38211											
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-													tctcccagtcccgcaaaggcTtttccccctccgctgcctcc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					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)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)ctfs		CD1d molecule							202	226	218					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	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.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs						p.L25fs	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			3	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		7	1960						7	1960	---	---	---	---	-	158151257	T	-	158151257	7	5	123	1	0	1	0	1	0	0	0	0	2986	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	1640712	158151257	91099364	26	38212											
RALGPS2	55103	broad.mit.edu	37	chr1	178855151	178855151	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atttaagagtgcaacgtttcCaaatgcaggaccaagacatc	8	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:178855151C>A	ENST00000367635.3	+	13	1426	c.1088C>A	c.(1087-1089)cCa>cAa	p.P363Q	RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	363					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						GCAACGTTTCCAAATGCAGGA	0.358																																						ENST00000367635.3																			0				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						c.(1087-1089)cCa>cAa		Ral GEF with PH domain and SH3 binding motif 2							76	78	77					1																	178855151		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178855151C>A	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.1088C>A	1.37:g.178855151C>A	ENSP00000356607:p.Pro363Gln					RALGPS2_ENST00000324778.4_Missense_Mutation_p.P328Q|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q|RALGPS2_ENST00000477383.1_3'UTR	p.P363Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			13	1426	+			363					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1088C>A	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679844	0.88542	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.43688	0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.71036	2.16	0.80722	D	1	D;P	0.59357	0.985;0.893	P;P	0.57057	0.812;0.614	T	0.63427	-0.6640	10	0.62326	D	0.03	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	363;363	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	363;363;328;12	ENSP00000356607:P363Q;ENSP00000356606:P363Q;ENSP00000313613:P328Q	ENSP00000313613:P328Q	P	+	2	0	RALGPS2	177121774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.318000	0.79029	2.623000	0.88846	0.655000	0.94253	CCA		0.358	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		6	476	1	0	1.12685e-05	1.12685e-05	0.00119236	6	476					A	178855151	C	A	178855151	3	1	123	1	0	0	0	0	1	0	0	0	13068	594	21	3	1134	3	RALGPS2	1	178855151	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	20703894	178855151	70395470	27	38213											
HMCN1	83872	broad.mit.edu	37	chr1	185833685	185833685	+	Silent	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cctggttctttcatctatgtTttcactgatgctcggtccaa	7	11	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185833685T>G	ENST00000271588.4	+	3	652	c.423T>G	c.(421-423)gtT>gtG	p.V141V	HMCN1_ENST00000367492.2_Silent_p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	141	VWFA.				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						TCATCTATGTTTTCACTGATG	0.438																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(421-423)gtT>gtG		hemicentin 1							122	115	117					1																	185833685		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185833685T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.423T>G	1.37:g.185833685T>G						HMCN1_ENST00000367492.2_Silent_p.V141V	p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			3	652	+			141			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.423T>G	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	314	0	0	0	1.23904e-05	0	5	314					G	185833685	T	G	185833685	2	3	123	1	0	0	0	0	0	0	0	1	7250	1828	64	4		4	HMCN1	1	185833685	Silent	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	6978534	185833685	63416936	28	38214											
HMCN1	83872	broad.mit.edu	37	chr1	185931765	185931765	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aagattgcctggaccgttaaCgatatgtttatcgtgggttc	11	7	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				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						GGACCGTTAACGATATGTTTA	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1942-1944)aaC>aaT		hemicentin 1							207	190	196					1																	185931765		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931765C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	1.37:g.185931765C>T						HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	p.N648N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2173	+			648			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1944C>T	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	1010	0	0	0	7.07596e-05	0	15	1010					T	185931765	C	T	185931765	2	4	123	1	0	0	0	0	0	0	0	1	7250	535	19	1		1	HMCN1	1	185931765	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	98080	185931765	63318856	29	38215											
PRG4	10216	broad.mit.edu	37	chr1	186276451	186276451	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtctgcacccaccactAccaaggagcctgcacccacc	6	20	1	0	rs549460989	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:186276451A>C	ENST00000445192.2	+	7	1645	c.1600A>C	c.(1600-1602)Acc>Ccc	p.T534P	PRG4_ENST00000367483.4_Missense_Mutation_p.T493P|PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	534	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						ACCCACCACTACCAAGGAGCC	0.632													-|||	19	0.00379393	0.0023	0.0043	5008	,	,		6988	0.004		0.005	False		,,,				2504	0.0041					ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1600-1602)Acc>Ccc		proteoglycan 4							135	121	126					1																	186276451		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276451A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1600A>C	1.37:g.186276451A>C	ENSP00000399679:p.Thr534Pro					PRG4_ENST00000367485.4_Missense_Mutation_p.T441P|PRG4_ENST00000367483.4_Missense_Mutation_p.T493P|PRG4_ENST00000367486.3_Missense_Mutation_p.T491P|PRG4_ENST00000367484.3_Intron	p.T534P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1645	+			534			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1600A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	3.488	-0.104447	0.06967	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05382	3.47;3.58;3.45;3.54	2.94	-5.88	0.02290	.	.	.	.	.	T	0.02380	0.0073	N	0.02916	-0.46	0.09310	N	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.46048	-0.9219	8	.	.	.	.	11.4218	0.49987	0.2019:0.69:0.0:0.1082	.	400;441;534;493	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	491;400;493;441;534	ENSP00000356456:T491P;ENSP00000356453:T493P;ENSP00000356455:T441P;ENSP00000399679:T534P	.	T	+	1	0	PRG4	184543074	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-3.298000	0.00193	0.000000	0.15137	ACC		0.632	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	523	0	0	0	0.000147802	0	12	523					C	186276451	A	C	186276451	3	2	123	1	0	0	0	0	1	0	0	0	12528	391	14	4	1622	4	PRG4	1	186276451	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	344686	186276451	62974170	30	38216											
RGS13	6003	broad.mit.edu	37	chr1	192627387	192627387	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcacagtgacgagaatattCaattctggatggcatgtgaa	11	6	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:192627387C>A	ENST00000391995.2	+	6	472	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	62	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CGAGAATATTCAATTCTGGAT	0.383																																						ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(184-186)Caa>Aaa		regulator of G-protein signaling 13							85	85	85					1																	192627387		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192627387C>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"Regulators of G-protein signaling"	9995	protein-coding gene	gene with protein product		607190	"regulator of G-protein signalling 13"			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.184C>A	1.37:g.192627387C>A	ENSP00000375853:p.Gln62Lys					RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K|RGS13_ENST00000482095.1_3'UTR	p.Q62K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			6	472	+			62			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.184C>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291914	0.40594	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.01871	4.59;4.59	5.88	0.446	0.16602	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.251398	0.46758	N	0.000278	T	0.01092	0.0036	N	0.03177	-0.4	0.30253	N	0.79391	B	0.02656	0.0	B	0.10450	0.005	T	0.38023	-0.9680	10	0.38643	T	0.18	.	6.0463	0.19762	0.415:0.4318:0.1532:0.0	.	62	O14921	RGS13_HUMAN	K	62	ENSP00000375853:Q62K;ENSP00000442837:Q62K	ENSP00000375853:Q62K	Q	+	1	0	RGS13	190894010	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	1.591000	0.36665	0.108000	0.17862	-0.425000	0.05940	CAA		0.383	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		8	355	1	0	2.17888e-05	2.17888e-05	0.00213033	8	355					A	192627387	C	A	192627387	3	1	123	1	0	0	0	0	1	0	0	0	13346	827	29	3	194	3	RGS13	1	192627387	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6350936	192627387	56623234	31	38217											
RBBP5	5929	broad.mit.edu	37	chr1	205073048	205073048	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcaaaagatgccacaacgttCaaatcggagtcatcgtccac	7	12	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:205073048C>A	ENST00000264515.6	-	5	600	c.459G>T	c.(457-459)ttG>ttT	p.L153F	RBBP5_ENST00000484379.1_5'Flank|RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	153					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACAACGTTCAAATCGGAGT	0.458																																						ENST00000264515.6																			0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(457-459)ttG>ttT		retinoblastoma binding protein 5							207	196	199					1																	205073048		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205073048C>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.459G>T	1.37:g.205073048C>A	ENSP00000264515:p.Leu153Phe					RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	600	-	Breast(84;0.0505)		153					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.459G>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935417	0.34189	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60920	0.15;0.17	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.128869	0.53938	D	0.000056	T	0.69522	0.3120	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.99;0.983	D;P;P;P	0.63597	0.916;0.854;0.88;0.762	T	0.66432	-0.5925	10	0.09843	T	0.71	.	9.3503	0.38133	0.0:0.6767:0.2503:0.073	.	26;188;153;153	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	F	153	ENSP00000264515:L153F;ENSP00000356132:L153F	ENSP00000264515:L153F	L	-	3	2	RBBP5	203339671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.139000	0.31504	2.937000	0.99478	0.650000	0.86243	TTG		0.458	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057		13	823	1	0	0.00010058	0.00010058	0.0072096	13	823					A	205073048	C	A	205073048	3	1	123	1	0	0	0	0	1	0	0	0	13152	825	29	3	1197	3	RBBP5	1	205073048	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	12445661	205073048	44177573	32	38218											
KCNK2	3776	broad.mit.edu	37	chr1	215408472	215408472	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagagattgctgtgaTtgagaacatcaaatagccct	11	6	1	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:215408472T>C	ENST00000444842.2	+	7	1415	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	422	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ATTGCTGTGATTGAGAACATC	0.438																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1264-1266)aTt>aCt		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						142	138	140					1																	215408472		2203	4299	6502	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408472T>C	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.1265T>C	1.37:g.215408472T>C	ENSP00000394033:p.Ile422Thr					KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T|KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T	p.I422T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1415	+			422			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1265T>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167433	0.57476	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.76;1.73	5.63	5.63	0.86233	.	0.385177	0.29565	N	0.011799	T	0.21347	0.0514	L	0.27053	0.805	0.58432	D	0.999999	P;P;P	0.40731	0.728;0.608;0.728	B;B;B	0.37888	0.26;0.133;0.26	T	0.03157	-1.1066	10	0.87932	D	0	.	15.8309	0.78749	0.0:0.0:0.0:1.0	.	407;422;418	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	418;407;422	ENSP00000375765:I418T;ENSP00000375764:I407T;ENSP00000394033:I422T	ENSP00000375764:I407T	I	+	2	0	KCNK2	213475095	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.502000	0.81614	2.149000	0.67028	0.402000	0.26972	ATT		0.438	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		7	545	0	0	0	1.12685e-05	0	7	545					C	215408472	T	C	215408472	3	2	123	1	0	0	0	0	1	0	0	0	8096	1493	52	4	1334	4	KCNK2	1	215408472	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	10335424	215408472	33842149	33	38219											
HHIPL2	79802	broad.mit.edu	37	chr1	222716940	222716940	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aaccttcatctcactaattcGgatcttttctaccttcttct	2	13	6	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:222716940G>T	ENST00000343410.6	-	2	971	c.913C>A	c.(913-915)Cga>Aga	p.R305R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					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)		TCACTAATTCGGATCTTTTCT	0.453																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(913-915)Cga>Aga		HHIP-like 2							235	262	253					1																	222716940		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716940G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.913C>A	1.37:g.222716940G>T							p.R305R	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	971	-			305					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.913C>A	CCDS1530.2																																																																																				0.453	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		12	1456	1	0	0.000157383	0.000157383	0.00973904	12	1456					T	222716940	G	T	222716940	2	4	123	1	0	0	0	0	0	0	0	1	7124	1124	39	3		3	HHIPL2	1	222716940	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7308468	222716940	26533681	34	38220											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	15	6	0	1	rs148231227		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117	107	111					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		8	1028	0	0	0	1.12685e-05	0	8	1028					T	223176649	C	T	223176649	3	4	123	1	0	0	0	0	1	0	0	0	4555	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	459709	223176649	26073972	35	38221											
ENAH	55740	broad.mit.edu	37	chr1	225718263	225718263	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cttgaaaatttaccttctttGaatttccaattcttcttggg	5	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:225718263G>T	ENST00000366844.3	-	4	878	c.427C>A	c.(427-429)Caa>Aaa	p.Q143K	ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	143					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)		TACCTTCTTTGAATTTCCAAT	0.358																																						ENST00000366844.2																			0				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						c.(427-429)Caa>Aaa		enabled homolog (Drosophila)							140	148	145					1																	225718263		2203	4300	6503	SO:0001583	missense	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225718263G>T	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.427C>A	1.37:g.225718263G>T	ENSP00000355809:p.Gln143Lys					ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K	p.Q143K	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	4	878	-	Breast(184;0.206)		143					D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.427C>A	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309196	0.60414	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.44881	1.13;1.13;0.91	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.32530	0.975	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.55477	-0.8135	10	0.56958	D	0.05	-16.017	19.9859	0.97351	0.0:0.0:1.0:0.0	.	143;143	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	K	143;143;162;142	ENSP00000355809:Q143K;ENSP00000355808:Q143K;ENSP00000284563:Q162K	ENSP00000284563:Q162K	Q	-	1	0	ENAH	223784886	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.558000	0.82253	2.717000	0.92951	0.555000	0.69702	CAA		0.358	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		12	612	1	0	5.35267e-07	9.7654e-05	7.22847e-05	12	612					T	225718263	G	T	225718263	3	4	123	1	0	0	0	0	1	0	0	0	5129	1299	45	3	1396	3	ENAH	1	225718263	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2541614	225718263	23532358	36	38222											
MTR	4548	broad.mit.edu	37	chr1	237024423	237024423	+	Splice_Site	SNP	A	A	T													tttttttttttgtcttttttAgggcattgaaaaacatatta							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						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)	p.?(1)		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)	tgtcttttttAGGGCATTGAA	0.323																																						ENST00000366577.5																			1	Unknown(1)	p.?(1)	lung(1)	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						c.e20-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						28	28	28					1																	237024423		2190	4294	6484	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024423A>T	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.2044-1A>T	1.37:g.237024423A>T						MTR_ENST00000535889.1_Intron		NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2437	+	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)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37		CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919996	0.73098	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235091046	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	9.300000	0.96151	2.279000	0.76181	0.533000	0.62120	.		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	14	185	0	0	0	5.84002e-05	0	14	185					T	237024423	A	T	237024423	5	4	123	1	0	0	0	0	0	0	1	0	9999	434	15	5	2120	5	MTR	1	237024423	Splice_Site	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	11306160	237024423	12226198	37	38223	235	2									
MTR	4548	broad.mit.edu	37	chr1	237024431	237024431	+	Nonsense_Mutation	SNP	G	G	T													tttgtcttttttagggcattGaaaaacatattattgaggat							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:237024431G>T	ENST00000366577.5	+	20	2444	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	684	B12-binding N-terminal. {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)	ttAGGGCATTGAAAAACATAT	0.323																																						ENST00000366577.5																			0				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						c.(2050-2052)Gaa>Taa		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						35	35	35					1																	237024431		2199	4298	6497	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024431G>T	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.2050G>T	1.37:g.237024431G>T	ENSP00000355536:p.Glu684*					MTR_ENST00000535889.1_Intron	p.E684*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2444	+	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)	684			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.2050G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200572	0.97371	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	0.102591	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.8753	19.4279	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	X	538;684;238	.	ENSP00000355535:E238X	E	+	1	0	MTR	235091054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.824000	0.97209	0.655000	0.94253	GAA		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		12	238	1	0	8.34094e-07	0.000132079	0.000111408	12	238					T	237024431	G	T	237024431	4	4	123	1	0	0	0	0	0	1	0	0	9999	1291	45	3	2128	3	MTR	1	237024431	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	8	237024431	12226190	38	38224	235	2									
FH	2271	broad.mit.edu	37	chr1	241665755	241665755	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aagcttaccatcattggcttGaaaacattcaactcaaaatg	5	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:241665755G>T	ENST00000366560.3	-	8	1262	c.1224C>A	c.(1222-1224)ttC>ttA	p.F408L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	408					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCATTGGCTTGAAAACATTCA	0.393			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"Mis, N, F"	fumarate hydratase			"E, M"		"lieomyomatosis, renal"			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1222-1224)ttC>ttA		fumarate hydratase							69	62	64					1																	241665755		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665755G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1224C>A	1.37:g.241665755G>T	ENSP00000355518:p.Phe408Leu						p.F408L	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1262	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	408					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1224C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099784	0.56183	.	.	ENSG00000091483	ENST00000366560	D	0.90563	-2.69	5.61	2.71	0.32032	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.92604	3.325	0.80722	D	1	B	0.33413	0.411	B	0.35312	0.2	D	0.88900	0.3352	10	0.87932	D	0	-28.1888	8.595	0.33710	0.2566:0.0:0.7434:0.0	.	408	P07954	FUMH_HUMAN	L	408	ENSP00000355518:F408L	ENSP00000355518:F408L	F	-	3	2	FH	239732378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.979000	0.40608	0.311000	0.23014	-0.140000	0.14226	TTC		0.393	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		8	398	1	0	6.40141e-05	6.40141e-05	0.00496729	8	398					T	241665755	G	T	241665755	3	4	123	1	0	0	0	0	1	0	0	0	5900	1281	45	3	320	3	FH	1	241665755	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4641324	241665755	7584866	39	38225											
OR2B11	127623	broad.mit.edu	37	chr1	247614397	247614397	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccttcatatctttatttctCagggtgtaggtgaagggatt	10	7	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:247614397C>A	ENST00000318749.6	-	1	911	c.888G>T	c.(886-888)ctG>ctT	p.L296L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTTATTTCTCAGGGTGTAGG	0.478																																						ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(886-888)ctG>ctT		olfactory receptor, family 2, subfamily B, member 11							182	196	191					1																	247614397		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614397C>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"GPCR / Class A : Olfactory receptors"	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.888G>T	1.37:g.247614397C>A							p.L296L	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	911	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	296					B2RP03	Silent	SNP	ENST00000318749.6	37	c.888G>T	CCDS31090.1																																																																																				0.478	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		13	1284	1	0	3.86212e-05	3.86212e-05	0.00332401	13	1284					A	247614397	C	A	247614397	2	1	123	1	0	0	0	0	0	0	0	1	11030	813	29	3		3	OR2B11	1	247614397	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5948642	247614397	1636224	40	38226											
MBOAT2	129642	broad.mit.edu	37	chr2	9004330	9004330	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aaagagctgtctgaatattcCaattatcaagaaacatcttg	6	7	3	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:9004330C>A	ENST00000305997.3	-	10	1220	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	341					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)	p.W341L(1)	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)					CTGAATATTCCAATTATCAAG	0.328																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3																		MBOAT2/PRKCE(2)	1	Substitution - Missense(1)	p.W341L(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1021-1023)tGg>tTg		membrane bound O-acyltransferase domain containing 2							93	92	92					2																	9004330		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9004330C>A	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.1022G>T	2.37:g.9004330C>A	ENSP00000302177:p.Trp341Leu					MBOAT2_ENST00000486484.1_5'UTR	p.W341L	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN			10	1220	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		341					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.1022G>T	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939284	0.92526	.	.	ENSG00000143797	ENST00000305997	D	0.89681	-2.55	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77557	0.984;0.99	D	0.96980	0.9714	10	0.87932	D	0	-8.5929	19.1781	0.93611	0.0:1.0:0.0:0.0	.	341;341	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	L	341	ENSP00000302177:W341L	ENSP00000302177:W341L	W	-	2	0	MBOAT2	8921781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.532000	0.85374	0.561000	0.74099	TGG		0.328	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799		10	604	1	0	9.31168e-06	0.000151284	0.00101158	10	604					A	9004330	C	A	9004330	3	1	123	1	0	0	0	0	1	0	0	0	9398	595	21	3	556	3	MBOAT2	2	9004330	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		9004330	234195043	41	38227											
TCF23	150921	broad.mit.edu	37	chr2	27373013	27373013	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccagtcctgagaatgCcgcgcgggagcggagccggg	19	12	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:27373013C>T	ENST00000296096.5	+	2	375	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGAATGCCGCGCGGGAG	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(244-246)gCc>gTc		transcription factor 23							40	46	44					2																	27373013		2203	4300	6503	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373013C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.245C>T	2.37:g.27373013C>T	ENSP00000296096:p.Ala82Val						p.A82V	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	375	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		82					B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.245C>T	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221376	0.95139	.	.	ENSG00000163792	ENST00000296096	D	0.97906	-4.6	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.054766	0.64402	D	0.000001	D	0.98150	0.9389	M	0.65975	2.015	0.53688	D	0.999972	D	0.60160	0.987	P	0.60789	0.879	D	0.98239	1.0487	10	0.48119	T	0.1	-6.4656	17.2403	0.87011	0.0:1.0:0.0:0.0	.	82	Q7RTU1	TCF23_HUMAN	V	82	ENSP00000296096:A82V	ENSP00000296096:A82V	A	+	2	0	TCF23	27226517	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.750000	0.68712	2.680000	0.91292	0.561000	0.74099	GCC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		5	262	0	0	0	3.59834e-05	0	5	262					T	27373013	C	T	27373013	3	4	123	1	0	0	0	0	1	0	0	0	15744	739	26	2	251	2	TCF23	2	27373013	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	18368683	27373013	215826360	42	38228											
BIRC6	57448	broad.mit.edu	37	chr2	32613902	32613902	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaactcaagaaaataaatCaaaatgttgctgccttacct	5	8	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:32613902C>A	ENST00000421745.2	+	4	864	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	244					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)					GAAAATAAATCAAAATGTTGC	0.463																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(730-732)Caa>Aaa		baculoviral IAP repeat containing 6							151	128	136					2																	32613902		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32613902C>A	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.730C>A	2.37:g.32613902C>A	ENSP00000393596:p.Gln244Lys						p.Q244K	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			4	864	+	Acute lymphoblastic leukemia(172;0.155)		244					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.730C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970684	0.74246	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	5.75	5.75	0.90469	.	0.066156	0.64402	D	0.000009	T	0.67163	0.2864	L	0.34521	1.04	0.58432	D	0.999999	P	0.48764	0.915	B	0.40940	0.344	T	0.65903	-0.6055	10	0.29301	T	0.29	.	19.9498	0.97195	0.0:1.0:0.0:0.0	.	244	Q9NR09	BIRC6_HUMAN	K	244	ENSP00000393596:Q244K	ENSP00000393596:Q244K	Q	+	1	0	BIRC6	32467406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.715000	0.92844	0.650000	0.86243	CAA		0.463	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		9	255	1	0	6.40141e-05	6.40141e-05	0.00496729	9	255					A	32613902	C	A	32613902	3	1	123	1	0	0	0	0	1	0	0	0	1440	827	29	3	744	3	BIRC6	2	32613902	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5240889	32613902	210585471	43	38229											
CRIM1	51232	broad.mit.edu	37	chr2	36669819	36669819	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaccgcgtgtcccccGgacagctatgaaactcaagt	10	14	1	2	rs200502210		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:36669819G>T	ENST00000280527.2	+	4	1177	c.810G>T	c.(808-810)ccG>ccT	p.P270P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	270					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)				CGTGTCCCCCGGACAGCTATG	0.478																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(808-810)ccG>ccT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							169	149	156					2																	36669819		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36669819G>T	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.810G>T	2.37:g.36669819G>T							p.P270P	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			4	1177	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	270					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.810G>T	CCDS1783.1																																																																																				0.478	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		9	796	1	0	1.12685e-05	1.12685e-05	0.00119236	9	796					T	36669819	G	T	36669819	2	4	123	1	0	0	0	0	0	0	0	1	3882	1103	39	3		3	CRIM1	2	36669819	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4055917	36669819	206529554	44	38230											
MSH6	2956	broad.mit.edu	37	chr2	48032777	48032777	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtgaaagtacattttttgttGaattaagtgaaactgccagc	9	5	0	3	rs63751328		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:48032777G>T	ENST00000234420.5	+	7	3729	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1193			E -> K (found in an endometrial cancer sample; displays marked 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)			ATTTTTTGTTGAATTAAGTGA	0.303			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"Mis, N, F, S"	mutS homolog 6 (E. coli)			E		"colorectal, endometrial, ovarian"	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(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	GRCh37	CM042751	MSH6	M	rs63751328	c.(3577-3579)Gaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							76	79	78					2																	48032777		2203	4300	6503	SO:0001587	stop_gained	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032777G>T	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.3577G>T	2.37:g.48032777G>T	ENSP00000234420:p.Glu1193*					FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*	p.E1193*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3729	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1193		E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.3577G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.487868	0.99745	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4028	18.6051	0.91263	0.0:0.0:1.0:0.0	.	.	.	.	X	1193;159;1063;891	.	ENSP00000234420:E1193X	E	+	1	0	MSH6	47886281	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.622000	0.88805	0.462000	0.41574	GAA		0.303	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		14	708	1	0	7.07596e-05	7.07596e-05	0.00545608	14	708					T	48032777	G	T	48032777	4	4	123	1	0	0	0	0	0	1	0	0	9915	1291	45	3	3603	3	MSH6	2	48032777	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11362958	48032777	195166596	45	38231											
PSME4	23198	broad.mit.edu	37	chr2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T													ccttcggaaattggataaggINSttttttttacagtcatctgt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					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)	p.T1691fs*>39(1)		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)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093344_54093345insT	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.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs|PSME4_ENST00000476586.1_5'UTR	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		7	984						7	984	---	---	---	---	T	54093345	-	T	54093344	7	5	123	1	0	1	1	0	0	0	0	0	12756	1261	44	0	121	0	PSME4	2	54093344	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	6060567	54093344	189106029	46	38232											
CCDC88A	55704	broad.mit.edu	37	chr2	55570840	55570840	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gttcccagccaagatgtaatGattcatccatactttgtttc	6	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:55570840G>T	ENST00000436346.1	-	12	2118	c.1277C>A	c.(1276-1278)tCa>tAa	p.S426*	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	426					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						AAGATGTAATGATTCATCCAT	0.318																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1276-1278)tCa>tAa		coiled-coil domain containing 88A							132	127	129					2																	55570840		2203	4300	6503	SO:0001587	stop_gained	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55570840G>T	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.1277C>A	2.37:g.55570840G>T	ENSP00000410608:p.Ser426*					AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*	p.S426*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			12	2118	-			426					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37	c.1277C>A		.	.	.	.	.	.	.	.	.	.	G	40	8.219217	0.98712	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	5.91	5.91	0.95273	.	0.000000	0.39475	U	0.001343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3066	20.3011	0.98612	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000263630:S426X	S	-	2	0	CCDC88A	55424344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.804000	0.96469	0.650000	0.86243	TCA		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		12	503	1	0	0.000151284	0.000151284	0.00973904	12	503					T	55570840	G	T	55570840	4	4	123	1	0	0	0	0	0	1	0	0	2870	1294	45	3	4422	3	CCDC88A	2	55570840	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1477496	55570840	187628533	47	38233											
KIAA1841	84542	broad.mit.edu	37	chr2	61319641	61319641	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gagtatttgaatagtcttttCgaagaattaaaatcttggag	9	3	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:61319641C>A	ENST00000402291.1	+	11	1372	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	377										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1129-1131)ttC>ttA		KIAA1841							87	94	92					2																	61319641		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61319641C>A	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.1131C>A	2.37:g.61319641C>A	ENSP00000385579:p.Phe377Leu					KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L	p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		11	1372	+			377					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1131C>A	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983612	0.35036	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	3.21	0.36854	.	0.205027	0.44483	D	0.000455	T	0.42988	0.1227	L	0.46157	1.445	0.41078	D	0.9855	P;P	0.39535	0.677;0.585	B;B	0.39419	0.198;0.299	T	0.14559	-1.0468	9	0.19147	T	0.46	-15.8163	10.1076	0.42544	0.0:0.2114:0.0:0.7886	.	377;377	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	L	377	.	ENSP00000295031:F377L	F	+	3	2	KIAA1841	61173145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.061000	0.30542	0.405000	0.25532	-1.224000	0.01588	TTC		0.313	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		8	636	1	0	6.40141e-05	6.40141e-05	0.00496729	8	636					A	61319641	C	A	61319641	3	1	123	1	0	0	0	0	1	0	0	0	8291	883	31	3	1165	3	KIAA1841	2	61319641	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5748801	61319641	181879732	48	38234											
SLC1A4	6509	broad.mit.edu	37	chr2	65228619	65228619	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcttgtggttgcagctttcCgtacggtaaggcttgatact	11	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:65228619C>A	ENST00000234256.3	+	2	808	c.565C>A	c.(565-567)Cgt>Agt	p.R189S	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	189					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGCAGCTTTCCGTACGGTAAG	0.373																																						ENST00000234256.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(565-567)Cgt>Agt		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						153	143	147					2																	65228619		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65228619C>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.565C>A	2.37:g.65228619C>A	ENSP00000234256:p.Arg189Ser					SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	p.R189S	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN			2	808	+			189					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.565C>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646307	0.47258	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.58060	0.36	6.17	3.39	0.38822	.	0.422704	0.29046	N	0.013305	T	0.35364	0.0929	N	0.25031	0.7	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.22386	0.026;0.039	T	0.08848	-1.0702	10	0.39692	T	0.17	-23.7892	6.4387	0.21837	0.2407:0.5793:0.1161:0.0639	.	189;189	P43007;B2R7N6	SATT_HUMAN;.	S	109;189	ENSP00000234256:R189S	ENSP00000234256:R189S	R	+	1	0	SLC1A4	65082123	0.033000	0.19621	0.115000	0.21578	0.961000	0.63080	2.576000	0.46033	0.455000	0.26910	0.655000	0.94253	CGT		0.373	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		9	860	1	0	6.40141e-05	6.40141e-05	0.00496729	9	860					A	65228619	C	A	65228619	3	1	123	1	0	0	0	0	1	0	0	0	14484	652	23	3	571	3	SLC1A4	2	65228619	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3908978	65228619	177970754	49	38235											
CNRIP1	25927	broad.mit.edu	37	chr2	68544303	68544303	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccttaccggcatggtgatctGgatgggttgccgttctccac	12	12	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:68544303G>A	ENST00000263655.3	-	2	921	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	106										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGTGATCTGGATGGGTTGC	0.468																																						ENST00000263655.3																			0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(316-318)Cag>Tag		cannabinoid receptor interacting protein 1							186	161	170					2																	68544303		2203	4300	6503	SO:0001587	stop_gained	25927						protein binding	g.chr2:68544303G>A	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.316C>T	2.37:g.68544303G>A	ENSP00000263655:p.Gln106*					CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*	p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN			2	921	-			106					B2R4D0|Q49AN4|Q9UFZ0	Nonsense_Mutation	SNP	ENST00000263655.3	37	c.316C>T	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	37	6.464642	0.97590	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.3606	17.0178	0.86424	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000263655:Q106X	Q	-	1	0	CNRIP1	68397807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.967000	0.93402	2.697000	0.92050	0.555000	0.69702	CAG		0.468	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	NM_015463		9	853	0	0	0	3.86212e-05	0	9	853					A	68544303	G	A	68544303	4	1	123	1	0	0	0	0	0	1	0	0	3642	1357	47	2	247	2	CNRIP1	2	68544303	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3315684	68544303	174655070	50	38236											
DYSF	8291	broad.mit.edu	37	chr2	71891480	71891480	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atgacctcctctccaaggacGaaaagatcggtgagacggtc	11	11	1	3	rs368142107		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:71891480G>T	ENST00000258104.3	+	45	5246	c.4969G>T	c.(4969-4971)Gaa>Taa	p.E1657*	DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1657	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCCAAGGACGAAAAGATCGG	0.552																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM070072	DYSF	M		c.(4969-4971)Gaa>Taa		dysferlin							113	92	99					2																	71891480		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71891480G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4969G>T	2.37:g.71891480G>T	ENSP00000258104:p.Glu1657*					DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*	p.E1657*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			45	5246	+			1657			C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.4969G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	48	13.931724	0.99771	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6304	16.0724	0.80943	0.0:0.0:1.0:0.0	.	.	.	.	X	1688;1674;1695;1678;1657;1689;1658;1665;1679;1696;1675	.	ENSP00000258104:E1657X	E	+	1	0	DYSF	71744988	1.000000	0.71417	0.932000	0.37286	0.935000	0.57460	7.864000	0.87037	2.393000	0.81446	0.561000	0.74099	GAA		0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		9	440	1	0	0.00010058	0.00010058	0.0072096	9	440					T	71891480	G	T	71891480	4	4	123	1	0	0	0	0	0	1	0	0	4875	1059	37	3	5406	3	DYSF	2	71891480	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3347177	71891480	171307893	51	38237											
NAT8	9027	broad.mit.edu	37	chr2	73868603	73868603	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagagaccaggagtagggcGaggggccccccaagtaagag	16	11	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:73868603G>A	ENST00000272425.3	-	2	302	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.L51L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGTAGGGCGAGGGGCCCCC	0.612																																						ENST00000272425.3																			1	Substitution - coding silent(1)	p.L51L(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(151-153)ctC>ctT		N-acetyltransferase 8 (GCN5-related, putative)							75	89	84					2																	73868603		2203	4300	6503	SO:0001819	synonymous_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868603G>A	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.153C>T	2.37:g.73868603G>A							p.L51L	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN			2	302	-			51						Silent	SNP	ENST00000272425.3	37	c.153C>T	CCDS1926.1																																																																																				0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	NM_003960		7	554	0	0	0	0.000157383	0	7	554					A	73868603	G	A	73868603	2	1	123	1	0	0	0	0	0	0	0	1	10220	1045	37	1		1	NAT8	2	73868603	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1977123	73868603	169330770	52	38238											
LBX2	84759	broad.mit.edu	37	chr2	74729977	74729977	+	IGR	DEL	T	T	-													actcacttctagggaagtccTttttcccatcaagccctggg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:74729977delT	ENST00000233630.6	-	0	1792				LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_5'Flank|LBX2_ENST00000341396.2_Frame_Shift_Del_p.R4fs|RP11-523H20.3_ENST00000606287.1_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000460508.3_Frame_Shift_Del_p.R4fs	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						AGGGAAGTCCTTTTTCCCATC	0.622																																						ENST00000460508.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(10-12)ggfs		ladybird homeobox 2							31	34	33					2																	74729977		2203	4300	6503	SO:0001628	intergenic_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74729977delT	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954		2.37:g.74729977delT						LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000550249.1_5'UTR|LBX2_ENST00000341396.2_Frame_Shift_Del_p.R4fs	p.R4fs	NM_001009812.1	NP_001009812.1	Q6XYB7	LBX2_HUMAN			1	466	-			0					Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	c.10delA	CCDS1946.2																																																																																				0.622	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		7	308						7	308	---	---	---	---	-	74729977	T	-	74729977	6	5	123	0	1	1	0	1	0	0	0	0	8685	1608	56	0		0	LBX2	2	74729977	IGR	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	861374	74729977	168469396	53	38239											
TGOLN2	10618	broad.mit.edu	37	chr2	85554478	85554478	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagtctgcagctccggatgcGacttactagtgctgtctttt	11	10	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:85554478G>T	ENST00000409232.3	-	2	438	c.377C>A	c.(376-378)tCg>tAg	p.S126*	TGOLN2_ENST00000377386.3_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.S126*			O43493	TGON2_HUMAN	trans-golgi network protein 2	126	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTCCGGATGCGACTTACTAGT	0.592																																						ENST00000377386.3																			0											c.(376-378)tCg>tAg		trans-golgi network protein 2							351	349	349					2																	85554478		1981	4151	6132	SO:0001587	stop_gained	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554478G>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.377C>A	2.37:g.85554478G>T	ENSP00000386443:p.Ser126*					TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Nonsense_Mutation_p.S126*	p.S126*			O43493	TGON2_HUMAN			2	839	-			126			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Nonsense_Mutation	SNP	ENST00000409232.3	37	c.377C>A	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273883	0.80580	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	.	.	.	2.74	-2.83	0.05769	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7418	4.9072	0.13804	0.5492:0.1668:0.2841:0.0	.	.	.	.	X	126	.	ENSP00000366603:S126X	S	-	2	0	TGOLN2	85407989	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.923000	0.04000	-0.843000	0.04189	-0.579000	0.04138	TCG		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		19	2565	1	0	0.000157383	0.000157383	0.00973904	19	2565					T	85554478	G	T	85554478	4	4	123	1	0	0	0	0	0	1	0	0	15888	1059	37	3	948	3	TGOLN2	2	85554478	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	10824501	85554478	157644895	54	38240											
TMEM131	23505	broad.mit.edu	37	chr2	98422018	98422018	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tataatatcttcaaacctttGatttttttcctggctccaag	4	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:98422018G>T	ENST00000186436.5	-	20	2432	c.2204C>A	c.(2203-2205)tCa>tAa	p.S735*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	735						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						TCAAACCTTTGATTTTTTTCC	0.358																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2203-2205)tCa>tAa		transmembrane protein 131							176	188	184					2																	98422018		1805	4073	5878	SO:0001587	stop_gained	23505					integral to membrane		g.chr2:98422018G>T	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.2204C>A	2.37:g.98422018G>T	ENSP00000186436:p.Ser735*						p.S735*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			20	2432	-			735						Nonsense_Mutation	SNP	ENST00000186436.5	37	c.2204C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	42	9.342510	0.99142	.	.	ENSG00000075568	ENST00000186436	.	.	.	6.07	6.07	0.98685	.	0.120296	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5958	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	735	.	ENSP00000186436:S735X	S	-	2	0	TMEM131	97788450	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	TCA		0.358	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		28	980	1	0	2.90539e-05	2.90539e-05	0.00275258	28	980					T	98422018	G	T	98422018	4	4	123	1	0	0	0	0	0	1	0	0	16096	1294	45	3	3535	3	TMEM131	2	98422018	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12867540	98422018	144777355	55	38241											
ANAPC1	64682	broad.mit.edu	37	chr2	112614406	112614406	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctttgctggtatgttGgtcactgaaccaaagatgag	11	8	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:112614406G>T	ENST00000341068.3	-	12	2188	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGGTATGTTGGTCACTGAAC	0.358																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1414-1416)acC>acA		anaphase promoting complex subunit 1							91	85	87					2																	112614406		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112614406G>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1416C>A	2.37:g.112614406G>T							p.T472T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			12	2188	-			472					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1416C>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	3.478	-0.106555	0.06924	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.09	1.16	0.20824	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48234	-0.9053	4	.	.	.	-12.8832	8.521	0.33275	0.3365:0.0:0.6635:0.0	.	.	.	.	K	7	.	.	Q	-	1	0	ANAPC1	112330877	1.000000	0.71417	0.949000	0.38748	0.426000	0.31534	2.431000	0.44775	0.305000	0.22832	-0.291000	0.09656	CAA		0.358	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		9	592	1	0	3.86212e-05	3.86212e-05	0.00332401	9	592					T	112614406	G	T	112614406	2	4	123	1	0	0	0	0	0	0	0	1	598	1335	47	3		3	ANAPC1	2	112614406	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14192388	112614406	130584967	56	38242											
ERCC3	2071	broad.mit.edu	37	chr2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-													caaaagacactgtctgtgtcTcttcttcttcttcttcatcc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				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)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"Mis, S"	"excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"			E		"skin basal cell, skin squamous cell, melanoma"			0				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						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	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.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		10	383						10	383	---	---	---	---	-	128046946	TCT	-	128046944	7	5	123	1	0	1	0	1	0	0	0	0	5232	1551	54	0	1597	0	ERCC3	2	128046944	In_Frame_Del	DEL	TCT	TCGA-YB-A89D-01A-12D-A36O-08	15432538	128046944	115152429	57	38243											
TUBA3E	112714	broad.mit.edu	37	chr2	130949696	130949696	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggggggctggtagttaatgCccacctgccagagaagggaa	16	8	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:130949696C>T	ENST00000312988.7	-	5	1161	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	354					microtubule-based process (GO:0007017)|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)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTAGTTAATGCCCACCTGCCA	0.572																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1060-1062)gGc>gAc		tubulin, alpha 3e							36	38	37					2																	130949696		2202	4300	6502	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949696C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1061G>A	2.37:g.130949696C>T	ENSP00000318197:p.Gly354Asp						p.G354D	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			5	1161	-	Colorectal(110;0.1)		354						Missense_Mutation	SNP	ENST00000312988.7	37	c.1061G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.473840	0.43942	.	.	ENSG00000152086	ENST00000312988	D	0.84873	-1.91	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.49916	U	0.000137	D	0.94212	0.8142	H	0.99535	4.615	0.53688	D	0.999973	P	0.39216	0.664	P	0.51550	0.673	D	0.95347	0.8443	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	354	Q6PEY2	TBA3E_HUMAN	D	354	ENSP00000318197:G354D	ENSP00000318197:G354D	G	-	2	0	TUBA3E	130666166	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.399000	0.66314	1.668000	0.50843	0.455000	0.32223	GGC		0.572	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		5	415	0	0	0	3.59834e-05	0	5	415					T	130949696	C	T	130949696	3	4	123	1	0	0	0	0	1	0	0	0	16802	739	26	2	295	2	TUBA3E	2	130949696	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2902752	130949696	112249677	58	38244											
DARS	1615	broad.mit.edu	37	chr2	136673918	136673918	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcacatgggaactgtttattCactgtttgaatttcagtctg	8	7	4	1	rs375578989		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:136673918C>A	ENST00000264161.4	-	11	1199	c.984G>T	c.(982-984)gtG>gtT	p.V328V	DARS_ENST00000537273.1_Silent_p.V228V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	328					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACTGTTTATTCACTGTTTGAA	0.368																																						ENST00000264161.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(982-984)gtG>gtT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						127	125	126					2																	136673918		2203	4300	6503	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673918C>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	2678	protein-coding gene	gene with protein product	"aspartate tRNA ligase 1, cytoplasmic"	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.984G>T	2.37:g.136673918C>A						DARS_ENST00000537273.1_Silent_p.V228V	p.V328V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1199	-			328					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.984G>T	CCDS2180.1																																																																																				0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		11	766	1	0	6.40141e-05	6.40141e-05	0.00496729	11	766					A	136673918	C	A	136673918	2	1	123	1	0	0	0	0	0	0	0	1	4252	813	29	3		3	DARS	2	136673918	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5724222	136673918	106525455	59	38245											
LRP1B	53353	broad.mit.edu	37	chr2	141093392	141093392	+	Frame_Shift_Del	DEL	T	T	-													aactgcaatgtccctgggccTtttaaattcaggacactaca							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr2:141093392delT	ENST00000389484.3	-	78	12879	c.11908delA	c.(11908-11910)aggfs	p.R3970fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3970					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)		TCCCTGGGCCTTTTAAATTCA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11908-11910)ggfs		low density lipoprotein receptor-related protein 1B							94	91	92					2																	141093392		2203	4300	6503	SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141093392delT	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.11908delA	2.37:g.141093392delT	ENSP00000374135:p.Arg3970fs	TSP Lung(27;0.18)					p.R3970fs	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	78	12879	-		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)	3970					Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	c.11908delA	CCDS2182.1																																																																																				0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	875						8	875	---	---	---	---	-	141093392	T	-	141093392	7	5	123	1	0	1	0	1	0	0	0	0	8993	1608	56	0	1947	0	LRP1B	2	141093392	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	4419474	141093392	102105981	60	38246											
LRP1B	53353	broad.mit.edu	37	chr2	141747122	141747122	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgtgcaagtttgattggattCatcttcattgctcccacagt	8	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:141747122C>A	ENST00000389484.3	-	17	3720	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4. {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)		TGATTGGATTCATCTTCATTG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2749-2751)Gaa>Taa		low density lipoprotein receptor-related protein 1B							134	127	129					2																	141747122		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747122C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2749G>T	2.37:g.141747122C>A	ENSP00000374135:p.Glu917*	TSP Lung(27;0.18)					p.E917*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3720	-		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)	917			LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.2749G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	50	16.335596	0.99861	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	X	917;855	.	ENSP00000374135:E917X	E	-	1	0	LRP1B	141463592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.727000	0.84838	2.840000	0.97914	0.655000	0.94253	GAA		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	741	1	0	0.000132079	0.000132079	0.00935769	14	741					A	141747122	C	A	141747122	4	1	123	1	0	0	0	0	0	1	0	0	8993	835	29	3	11350	3	LRP1B	2	141747122	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	653730	141747122	101452251	61	38247											
ITGB6	3694	broad.mit.edu	37	chr2	160994703	160994703	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttccagttccacctcagacCgcagttcctttagttacaac	5	15	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:160994703C>A	ENST00000283249.2	-	9	1352	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000428609.2_Missense_Mutation_p.R330L|ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	372					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACCTCAGACCGCAGTTCCTT	0.403																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1114-1116)cGg>cTg		integrin, beta 6							179	155	163					2																	160994703		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994703C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1115G>T	2.37:g.160994703C>A	ENSP00000283249:p.Arg372Leu					ITGB6_ENST00000428609.2_Missense_Mutation_p.R330L|ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L	p.R372L			P18564	ITB6_HUMAN			9	1352	-			372					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1115G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069244	0.93950	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.76	5.76	0.90799	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98288	1.0512	10	0.49607	T	0.09	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	330;372	E9PEE8;P18564	.;ITB6_HUMAN	L	372;330;372;372	ENSP00000283249:R372L;ENSP00000408024:R330L;ENSP00000386828:R372L;ENSP00000386367:R372L	ENSP00000283249:R372L	R	-	2	0	ITGB6	160702949	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.559000	0.82265	2.880000	0.98712	0.650000	0.86243	CGG		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		7	636	1	0	0.000157383	0.000157383	0.00973904	7	636					A	160994703	C	A	160994703	3	1	123	1	0	0	0	0	1	0	0	0	7929	652	23	3	1279	3	ITGB6	2	160994703	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	19247581	160994703	82204670	62	38248											
SCN2A	6326	broad.mit.edu	37	chr2	166226782	166226782	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgtattttaccaatgcctgGtgctggctagacttcctgat	10	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:166226782G>A	ENST00000375437.2	+	20	4112	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	SCN2A_ENST00000357398.3_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1274					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)	CCAATGCCTGGTGCTGGCTAG	0.393																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3820-3822)tgG>tgA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						206	190	195					2																	166226782		2203	4300	6503	SO:0001587	stop_gained	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166226782G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3822G>A	2.37:g.166226782G>A	ENSP00000364586:p.Trp1274*					SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375437.2_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*	p.W1274*			Q99250	SCN2A_HUMAN			20	4112	+			1274					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	c.3822G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	44	10.760907	0.99463	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	1274	.	ENSP00000283256:W1274X	W	+	3	0	SCN2A	165935028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	TGG		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		16	1008	0	0	0	3.45872e-05	0	16	1008					A	166226782	G	A	166226782	4	1	123	1	0	0	0	0	0	1	0	0	13966	1270	44	2	3992	2	SCN2A	2	166226782	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5232079	166226782	76972591	63	38249											
LRP2	4036	broad.mit.edu	37	chr2	170070176	170070176	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caaatacttactgcgtctgtGataaacttgaagacccctca	6	11	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:170070176G>T	ENST00000263816.3	-	36	6316	c.6031C>A	c.(6031-6033)Cac>Aac	p.H2011N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2011					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)"	CTGCGTCTGTGATAAACTTGA	0.393																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6031-6033)Cac>Aac		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						138	136	137					2																	170070176		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170070176G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6031C>A	2.37:g.170070176G>T	ENSP00000263816:p.His2011Asn						p.H2011N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6316	-			2011					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6031C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195950	0.22037	.	.	ENSG00000081479	ENST00000263816	D	0.91068	-2.78	5.96	2.86	0.33363	Six-bladed beta-propeller, TolB-like (1);	0.334175	0.36854	N	0.002371	T	0.81484	0.4832	L	0.51853	1.615	0.80722	D	1	P	0.35656	0.514	B	0.21708	0.036	T	0.73424	-0.3987	10	0.17832	T	0.49	.	5.3453	0.16006	0.5156:0.0:0.4844:0.0	.	2011	P98164	LRP2_HUMAN	N	2011	ENSP00000263816:H2011N	ENSP00000263816:H2011N	H	-	1	0	LRP2	169778422	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.294000	0.43567	0.873000	0.35799	0.650000	0.86243	CAC		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	882	1	0	0.000151284	0.000151284	0.00973904	12	882					T	170070176	G	T	170070176	3	4	123	1	0	0	0	0	1	0	0	0	8994	1290	45	3	8112	3	LRP2	2	170070176	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3843394	170070176	73129197	64	38250											
PPIG	9360	broad.mit.edu	37	chr2	170493804	170493804	+	Frame_Shift_Del	DEL	A	A	-													tagctcaaataacagcagggAaaaaaaggctgatagagatc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:170493804delA	ENST00000260970.3	+	14	2256	c.2036delA	c.(2035-2037)gaafs	p.E679fs	PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs|PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	679					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AACAGCAGGGAAAAAAAGGCT	0.358																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2035-2037)gafs		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						61	65	64					2																	170493804		2203	4300	6503	SO:0001589	frameshift_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493804delA	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.2036delA	2.37:g.170493804delA	ENSP00000260970:p.Glu679fs					PPIG_ENST00000448752.2_Frame_Shift_Del_p.E679fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.E664fs	p.E679fs	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2256	+			679					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Frame_Shift_Del	DEL	ENST00000260970.3	37	c.2036delA	CCDS2235.1																																																																																				0.358	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			9	736						9	736	---	---	---	---	-	170493804	A	-	170493804	7	5	123	1	0	1	0	1	0	0	0	0	12371	246	9	0	2082	0	PPIG	2	170493804	Frame_Shift_Del	DEL	A	TCGA-YB-A89D-01A-12D-A36O-08	423628	170493804	72705569	65	38251											
TTN	7273	broad.mit.edu	37	chr2	179445134	179445134	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcctgcatcatatttgttCacattttcacagcgcaagaa	5	10	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:179445134C>A	ENST00000591111.1	-	267	62273	c.62049G>T	c.(62047-62049)gtG>gtT	p.V20683V	RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.V22324V|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20683					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)			CATATTTGTTCACATTTTCAC	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(66970-66972)gtG>gtT		titin							165	150	155					2																	179445134		1869	4096	5965	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179445134C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62049G>T	2.37:g.179445134C>A						TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V20683V|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000586707.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA	p.V22324V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		317	67196	-			20683			Fibronectin type-III 62.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.66972G>T																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	781	1	0	9.7654e-05	9.7654e-05	0.0072096	18	781					A	179445134	C	A	179445134	2	1	123	1	0	0	0	0	0	0	0	1	16789	813	29	3		3	TTN	2	179445134	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	8951330	179445134	63754239	66	38252											
ZNF385B	151126	broad.mit.edu	37	chr2	180311341	180311341	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttttggctttttcttcttctGattcaacaacagtaccggga	7	9	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:180311341G>T	ENST00000410066.1	-	7	1430	c.827C>A	c.(826-828)tCa>tAa	p.S276*	ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	276	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)			TTCTTCTTCTGATTCAACAAC	0.478																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(826-828)tCa>tAa		zinc finger protein 385B							108	110	109					2																	180311341		2203	4300	6503	SO:0001587	stop_gained	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180311341G>T	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.827C>A	2.37:g.180311341G>T	ENSP00000386845:p.Ser276*					ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*	p.S276*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		7	1430	-			276					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Nonsense_Mutation	SNP	ENST00000410066.1	37	c.827C>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259971	0.97421	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	0.808	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	276;174;200;174;174	.	ENSP00000338225:S174X	S	-	2	0	ZNF385B	180019586	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.624000	0.98398	2.770000	0.95276	0.655000	0.94253	TCA		0.478	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		11	523	1	0	2.27111e-07	0.00010058	3.11869e-05	11	523					T	180311341	G	T	180311341	4	4	123	1	0	0	0	0	0	1	0	0	17930	1294	45	3	604	3	ZNF385B	2	180311341	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	866207	180311341	62888032	67	38253											
ZC3H15	55854	broad.mit.edu	37	chr2	187370558	187370558	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccgctacacccagggaacagGtggtgatgaggtaagaggaa	15	8	0	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:187370558G>T	ENST00000337859.6	+	8	1183	c.956G>T	c.(955-957)gGt>gTt	p.G319V	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGGGAACAGGTGGTGATGAG	0.428																																						ENST00000337859.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(955-957)gGt>gTt		zinc finger CCCH-type containing 15							105	99	101					2																	187370558		2021	4174	6195	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370558G>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.956G>T	2.37:g.187370558G>T	ENSP00000338788:p.Gly319Val					ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	p.G319V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		8	1183	+			319					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.956G>T	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032400	0.35893	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.29917	1.55	5.87	5.87	0.94306	.	0.478557	0.25823	N	0.028075	T	0.21022	0.0506	N	0.22421	0.69	0.50632	D	0.999884	B	0.33583	0.418	B	0.32393	0.145	T	0.04635	-1.0937	10	0.22706	T	0.39	-16.981	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	319	Q8WU90	ZC3HF_HUMAN	V	319;114;319	ENSP00000338788:G319V	ENSP00000338788:G319V	G	+	2	0	ZC3H15	187078803	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.103000	0.64578	2.941000	0.99782	0.655000	0.94253	GGT		0.428	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471		14	181	1	0	3.27435e-08	1.49906e-05	4.6263e-06	14	181					T	187370558	G	T	187370558	3	4	123	1	0	0	0	0	1	0	0	0	17620	1261	44	3	986	3	ZC3H15	2	187370558	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7059217	187370558	55828815	68	38254											
SLC39A10	57181	broad.mit.edu	37	chr2	196548428	196548428	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tcactttccttgcagtgtttGaacgtcactcagttattaaa	6	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:196548428G>T	ENST00000409086.3	+	3	1289	c.1014G>T	c.(1012-1014)ttG>ttT	p.L338F	SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	338					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)			TGCAGTGTTTGAACGTCACTC	0.313																																						ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1012-1014)ttG>ttT		solute carrier family 39 (zinc transporter), member 10							118	111	113					2																	196548428		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196548428G>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1014G>T	2.37:g.196548428G>T	ENSP00000386766:p.Leu338Phe					SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F	p.L338F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		3	1289	+			338					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1014G>T	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782450	0.49891	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.69435	-0.4;-0.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68401	-0.5418	10	0.06236	T	0.91	.	9.6188	0.39708	0.1242:0.0:0.8758:0.0	.	338	Q9ULF5	S39AA_HUMAN	F	338	ENSP00000386766:L338F;ENSP00000352655:L338F	ENSP00000352655:L338F	L	+	3	2	SLC39A10	196256673	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.893000	0.56243	2.656000	0.90262	0.650000	0.86243	TTG		0.313	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		10	550	1	0	1.58986e-06	3.86212e-05	0.000199287	10	550					T	196548428	G	T	196548428	3	4	123	1	0	0	0	0	1	0	0	0	14663	1281	45	3	1020	3	SLC39A10	2	196548428	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	9177870	196548428	46650945	69	38255											
BCS1L	617	broad.mit.edu	37	chr2	219525978	219525978	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accttcagcatgagagtggcCgcatttccactaagtttgaa	9	10	1	2	rs369691608		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:219525978C>A	ENST00000431802.1	+	2	967	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGAGTGGCCGCATTTCCAC	0.522																																						ENST00000431802.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(268-270)Cgc>Agc		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							120	125	124					2																	219525978		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525978C>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.268C>A	2.37:g.219525978C>A	ENSP00000413908:p.Arg90Ser					BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S	p.R90S			Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	967	+		Renal(207;0.0474)	90					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.268C>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	7.689	0.690688	0.15039	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96073	-3.9;-3.9;-2.29;-2.29;-2.29;-2.93;-2.29;-2.29;-2.29;-2.29	5.6	4.73	0.59995	BCS1, N-terminal (1);	0.121283	0.56097	D	0.000032	D	0.90195	0.6935	N	0.24115	0.695	0.51233	D	0.999917	B	0.24483	0.104	B	0.27262	0.078	D	0.85611	0.1258	10	0.08381	T	0.77	-10.8847	14.3379	0.66603	0.0:0.9291:0.0:0.0709	.	90	Q9Y276	BCS1_HUMAN	S	90	ENSP00000398957:R90S;ENSP00000395440:R90S;ENSP00000352219:R90S;ENSP00000375957:R90S;ENSP00000375958:R90S;ENSP00000397293:R90S;ENSP00000375959:R90S;ENSP00000406494:R90S;ENSP00000404999:R90S;ENSP00000413908:R90S	ENSP00000352219:R90S	R	+	1	0	BCS1L	219234222	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	5.933000	0.70130	1.367000	0.46095	0.655000	0.94253	CGC		0.522	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		9	713	1	0	1.76689e-08	2.17888e-05	2.51094e-06	9	713					A	219525978	C	A	219525978	3	1	123	1	0	0	0	0	1	0	0	0	1390	652	23	3	270	3	BCS1L	2	219525978	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	22977550	219525978	23673395	70	38256											
FBXO36	130888	broad.mit.edu	37	chr2	230861544	230861544	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaggtaaatttgacttccttGaacggctctcagacgatttg	9	8	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:230861544G>T	ENST00000283946.3	+	3	301	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	FBXO36_ENST00000373652.3_Nonsense_Mutation_p.E64*|FBXO36_ENST00000409992.1_Nonsense_Mutation_p.E75*	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	95	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGACTTCCTTGAACGGCTCTC	0.373																																						ENST00000373652.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(190-192)Gaa>Taa		F-box protein 36							188	182	184					2																	230861544		2203	4300	6503	SO:0001587	stop_gained	130888							g.chr2:230861544G>T	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"F-boxes /  "other""	27020	protein-coding gene	gene with protein product		609105	"F-box only protein 36"			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.283G>T	2.37:g.230861544G>T	ENSP00000283946:p.Glu95*					FBXO36_ENST00000409992.1_Nonsense_Mutation_p.E75*|FBXO36_ENST00000283946.3_Nonsense_Mutation_p.E95*	p.E64*			Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	611	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	95					B3KVQ6|Q53TE6|Q8WWD4	Nonsense_Mutation	SNP	ENST00000283946.3	37	c.190G>T	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739936	0.89573	.	.	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	.	.	.	5.37	5.37	0.77165	.	0.068618	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.5523	17.8809	0.88840	0.0:0.0:1.0:0.0	.	.	.	.	X	64;95;75	.	ENSP00000283946:E95X	E	+	1	0	FBXO36	230569788	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	4.277000	0.58939	2.518000	0.84900	0.561000	0.74099	GAA		0.373	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	NM_174899		12	856	1	0	0.000151284	0.000151284	0.00973904	12	856					T	230861544	G	T	230861544	4	4	123	1	0	0	0	0	0	1	0	0	5770	1291	45	3	293	3	FBXO36	2	230861544	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11335566	230861544	12337829	71	38257											
UGT1A8	54658	broad.mit.edu	37	chr2	234526711	234526711	+	Frame_Shift_Del	DEL	T	T	-													ccaatggtttttttaacttaTttttttcgcattgcaggagt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:234526711delT	ENST00000373450.4	+	1	421	c.358delT	c.(358-360)tttfs	p.F121fs		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	124					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)	TTTTAACTTATTTTTTTCGCA	0.373																																						ENST00000373450.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(358-360)ttfs									112	120	118					2																	234526711		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234526711delT	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"UDP glucuronosyltransferases"	12530	other	complex locus constituent		191740	"UDP glycosyltransferase 1 family, polypeptide A1"	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.358delT	2.37:g.234526711delT	ENSP00000362549:p.Phe121fs						p.F121fs	NM_019076.4	NP_061949.3				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	421	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Frame_Shift_Del	DEL	ENST00000373450.4	37	c.358delT	CCDS33402.1																																																																																				0.373	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			7	1015						7	1015	---	---	---	---	-	234526711	T	-	234526711	7	5	123	1	0	1	0	1	0	0	0	0	17005	1493	52	0	360	0	UGT1A8	2	234526711	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	3665167	234526711	8672662	72	38258											
UGT1A10	54575	broad.mit.edu	37	chr2	234545526	234545526	+	Frame_Shift_Del	DEL	T	T	-													ccagtggttttcttgacttaTttttttcgcattgcaggagt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:234545526delT	ENST00000344644.5	+	1	427	c.358delT	c.(358-360)tttfs	p.F121fs	UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	121					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)	TCTTGACTTATTTTTTTCGCA	0.373																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(358-360)ttfs									103	111	109					2																	234545526		2203	4300	6503	SO:0001589	frameshift_variant	0							g.chr2:234545526delT	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.358delT	2.37:g.234545526delT	ENSP00000343838:p.Phe121fs					UGT1A10_ENST00000373445.1_Frame_Shift_Del_p.F121fs|UGT1A8_ENST00000373450.4_Intron	p.F121fs	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	427	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Frame_Shift_Del	DEL	ENST00000344644.5	37	c.358delT	CCDS33403.1																																																																																				0.373	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		8	989						8	989	---	---	---	---	-	234545526	T	-	234545526	7	5	123	1	0	1	0	1	0	0	0	0	16999	1493	52	0	360	0	UGT1A10	2	234545526	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	18815	234545526	8653847	73	38259											
GPR35	2859	broad.mit.edu	37	chr2	241569512	241569512	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gctctgggtgttctgctgccGcatgcagcagtggacggaga	16	10	2	1	rs368251622		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:241569512G>A	ENST00000319838.5	+	6	1085	c.143G>A	c.(142-144)cGc>cAc	p.R48H	GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	48					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)		TTCTGCTGCCGCATGCAGCAG	0.647																																						ENST00000319838.5																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(142-144)cGc>cAc		G protein-coupled receptor 35		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84	75	78		236,236,143	2.9	0.8	2		78	0,8600		0,0,4300	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	79/341,79/341,48/310	241569512	1,13005	2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569512G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"GPCR / Class A : Orphans"	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.143G>A	2.37:g.241569512G>A	ENSP00000322731:p.Arg48His					GPR35_ENST00000430267.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H	p.R48H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1085	+		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)	48					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.143G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219555	0.58560	2.27E-4	0.0	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	3.81	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.567532	0.16439	U	0.214392	T	0.73225	0.3560	L	0.39514	1.22	0.34064	D	0.657654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.987;0.989;0.989	T	0.74497	-0.3646	10	0.36615	T	0.2	-28.6438	6.1563	0.20340	0.2348:0.0:0.7652:0.0	.	133;79;48	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	48;48;79;48;48	ENSP00000322731:R48H;ENSP00000385140:R48H;ENSP00000415890:R79H;ENSP00000384263:R48H;ENSP00000411788:R48H	ENSP00000322731:R48H	R	+	2	0	GPR35	241218185	0.000000	0.05858	0.789000	0.31954	0.616000	0.37450	-0.018000	0.12568	0.937000	0.37394	0.462000	0.41574	CGC		0.647	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	NM_001195382		6	247	0	0	0	3.59834e-05	0	6	247					A	241569512	G	A	241569512	3	1	123	1	0	0	0	0	1	0	0	0	6719	1087	38	1	145	1	GPR35	2	241569512	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7023986	241569512	1629861	74	38260											
HDLBP	3069	broad.mit.edu	37	chr2	242194513	242194513	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caggttctgccctttcttgcCaatgatgaaacggtgaagcc	10	11	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:242194513C>A	ENST00000391975.1	-	9	1368	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	381	KH 4. {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)		CCTTTCTTGCCAATGATGAAA	0.478																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1141-1143)Ggc>Tgc		high density lipoprotein binding protein							196	209	205					2																	242194513		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242194513C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1141G>T	2.37:g.242194513C>A	ENSP00000375836:p.Gly381Cys					HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C	p.G381C	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	9	1368	-		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)	381			KH 4.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1141G>T	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.374320|5.374320|5.374320	0.95923|0.95923|0.95923	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141|ENST00000373292	D;D;D;D|.|.	0.88741|.|.	-2.42;-2.42;-2.42;-2.42|.|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84543|0.84543|0.84543	0.5495|0.5495|0.5495	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0|.|.	D|D|D	0.85095|0.85095|0.85095	0.0954|0.0954|0.0954	10|5|5	0.87932|.|.	D|.|.	0|.|.	-37.045|-37.045|-37.045	20.3539|20.3539|20.3539	0.98825|0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	381;348;381|.|.	B2R5V9;E7EM71;Q00341|.|.	.;.;VIGLN_HUMAN|.|.	C|F|L	381;381;381;348|258|189	ENSP00000375836:G381C;ENSP00000375837:G381C;ENSP00000312042:G381C;ENSP00000399139:G348C|.|.	ENSP00000312042:G381C|.|.	G|L|W	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241843186|241843186|241843186	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.755000|7.755000|7.755000	0.85180|0.85180|0.85180	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|TTG|TGG		0.478	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		12	1227	1	0	1.12685e-05	1.12685e-05	0.00119236	12	1227					A	242194513	C	A	242194513	3	1	123	1	0	0	0	0	1	0	0	0	7055	594	21	3	2745	3	HDLBP	2	242194513	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	625001	242194513	1004860	75	38261											
CRELD1	78987	broad.mit.edu	37	chr3	9982708	9982708	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	cgccagccatctggtatgttCgggtaggtagccaaaaggtg	14	9	1	0	rs138336691	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:9982708C>G	ENST00000383811.3	+	5	1234	c.635C>G	c.(634-636)tCg>tGg	p.S212W	CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	212					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTGGTATGTTCGGGTAGGTAG	0.632																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(634-636)tCg>tGg		cysteine-rich with EGF-like domains 1							74	73	73					3																	9982708		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982708C>G	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.635C>G	3.37:g.9982708C>G	ENSP00000373322:p.Ser212Trp					CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W	p.S212W	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			5	1234	+			212					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.635C>G	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448710	0.63178	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.33	3.34	0.38264	EGF-like, laminin (1);Growth factor, receptor (1);	0.236302	0.35436	N	0.003208	D	0.88451	0.6440	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.69078	0.979;0.997	B;P	0.60682	0.435;0.878	D	0.86591	0.1860	9	.	.	.	.	9.4454	0.38695	0.1529:0.7599:0.0:0.0871	.	212;212	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	W	212	ENSP00000380355:S212W;ENSP00000373322:S212W;ENSP00000393643:S212W;ENSP00000321856:S212W	.	S	+	2	0	CRELD1	9957708	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.517000	0.53443	1.252000	0.44001	0.561000	0.74099	TCG		0.632	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		5	346	0	0	0	1.23904e-05	0	5	346					G	9982708	C	G	9982708	3	3	123	1	0	0	0	0	1	0	0	0	3875	893	31	5	653	5	CRELD1	3	9982708	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		9982708	188039722	76	38262											
FANCD2	2177	broad.mit.edu	37	chr3	10108928	10108928	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgccaggaaacatcacctgaGatgaaggggaaggtgctcac	13	9	2	2	rs34414402		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:10108928G>T	ENST00000419585.1	+	26	2582	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D	FANCD2_ENST00000287647.3_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	807					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)		CATCACCTGAGATGAAGGGGA	0.373			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"D, Mis, N, F"	"Fanconi anemia, complementation group D2"			L		"AML, leukemia"			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(2419-2421)gaG>gaT	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2							89	77	81					3																	10108928		2203	4300	6503	SO:0001583	missense	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10108928G>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2421G>T	3.37:g.10108928G>T	ENSP00000398754:p.Glu807Asp					FANCD2_ENST00000419585.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383806.1_Missense_Mutation_p.E807D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E807D	p.E807D	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	26	2514	+			807					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2421G>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680121	0.47886	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.44	4.51	0.55191	.	0.095731	0.64402	D	0.000001	T	0.40473	0.1118	L	0.29908	0.895	0.35906	D	0.830736	P;P	0.34587	0.458;0.458	B;B	0.33750	0.169;0.169	T	0.45190	-0.9278	10	0.21540	T	0.41	.	8.4757	0.33012	0.0:0.1664:0.6614:0.1722	.	807;807	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	D	807	ENSP00000287647:E807D;ENSP00000373318:E807D;ENSP00000373317:E807D;ENSP00000398754:E807D	ENSP00000287647:E807D	E	+	3	2	FANCD2	10083928	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.991000	0.49409	2.571000	0.86741	0.585000	0.79938	GAG		0.373	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			6	208	1	0	6.40141e-05	6.40141e-05	0.00496729	6	208					T	10108928	G	T	10108928	3	4	123	1	0	0	0	0	1	0	0	0	5690	933	33	3	2519	3	FANCD2	3	10108928	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	126220	10108928	187913502	77	38263											
ATP2B2	491	broad.mit.edu	37	chr3	10452375	10452375	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcggcaatctccaggatgatGagcgtcacgtcctgcagcgc	13	13	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:10452375G>T	ENST00000352432.4	-	2	393	c.324C>A	c.(322-324)ctC>ctA	p.L108L	ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000397077.1_Silent_p.L108L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	108					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						CCAGGATGATGAGCGTCACGT	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(322-324)ctC>ctA		ATPase, Ca++ transporting, plasma membrane 2							186	198	194					3																	10452375		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452375G>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.324C>A	3.37:g.10452375G>T						ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000352432.4_Silent_p.L108L	p.L108L			Q01814	AT2B2_HUMAN			5	899	-			108					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.324C>A	CCDS33701.1																																																																																				0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		14	1155	1	0	3.86212e-05	3.86212e-05	0.00332401	14	1155					T	10452375	G	T	10452375	2	4	123	1	0	0	0	0	0	0	0	1	1141	1277	45	3		3	ATP2B2	3	10452375	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	343447	10452375	187570055	78	38264											
NGLY1	55768	broad.mit.edu	37	chr3	25770651	25770651	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagtctgtttcaacttttctGaatatagattccattttcca	4	9	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:25770651G>T	ENST00000280700.5	-	10	1744	c.1584C>A	c.(1582-1584)ttC>ttA	p.F528L	NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000428257.1_Missense_Mutation_p.F510L|NGLY1_ENST00000422724.2_3'UTR	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	528	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAACTTTTCTGAATATAGATT	0.313																																						ENST00000428257.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1528-1530)ttC>ttA		N-glycanase 1							128	119	122					3																	25770651		2202	4299	6501	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25770651G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1584C>A	3.37:g.25770651G>T	ENSP00000280700:p.Phe528Leu					NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.F528L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L	p.F510L	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			10	1637	-			528			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1530C>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857742	0.71834	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.82	4.0	0.46444	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.199148	0.53938	D	0.000042	D	0.96706	0.8925	M	0.82193	2.58	0.80722	D	1	D;D;P;D	0.69078	0.997;0.966;0.937;0.993	P;P;P;P	0.61397	0.888;0.466;0.814;0.618	D	0.96101	0.9069	10	0.59425	D	0.04	-7.2391	7.6939	0.28583	0.1442:0.3228:0.533:0.0	.	486;510;528;528	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	L	510;528;528;507;486	ENSP00000387430:F510L;ENSP00000280700:F528L;ENSP00000307980:F507L;ENSP00000389888:F486L	ENSP00000280700:F528L	F	-	3	2	NGLY1	25745655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.762000	0.47597	1.439000	0.47511	0.561000	0.74099	TTC		0.313	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			20	682	1	0	0.000117367	0.000117367	0.00838831	20	682					T	25770651	G	T	25770651	3	4	123	1	0	0	0	0	1	0	0	0	10440	1281	45	3	392	3	NGLY1	3	25770651	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	15318276	25770651	172251779	79	38265											
ZNF502	91392	broad.mit.edu	37	chr3	44762976	44762976	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgggaaaacatttcgatgtCgatcatttcttactcagcat	8	8	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:44762976C>A	ENST00000296091.4	+	4	923	c.667C>A	c.(667-669)Cga>Aga	p.R223R	ZNF502_ENST00000436624.2_Silent_p.R223R|ZNF502_ENST00000449836.1_Silent_p.R223R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	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)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATTTCGATGTCGATCATTTCT	0.398																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(667-669)Cga>Aga		zinc finger protein 502							153	159	157					3																	44762976		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762976C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.667C>A	3.37:g.44762976C>A						ZNF502_ENST00000449836.1_Silent_p.R223R|ZNF502_ENST00000436624.2_Silent_p.R223R	p.R223R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	923	+			223						Silent	SNP	ENST00000296091.4	37	c.667C>A	CCDS2719.1																																																																																				0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		17	938	1	0	0.000132079	0.000132079	0.00935769	17	938					A	44762976	C	A	44762976	2	1	123	1	0	0	0	0	0	0	0	1	18003	876	31	3		3	ZNF502	3	44762976	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	18992325	44762976	153259454	80	38266											
FYCO1	79443	broad.mit.edu	37	chr3	46003868	46003868	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gatttttgttgtggctttttCgagttccttctgggtcctgg	12	7	1	0	rs148106976		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:46003868C>A	ENST00000296137.2	-	11	3491	c.3286G>T	c.(3286-3288)Gaa>Taa	p.E1096*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1096					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGGCTTTTTCGAGTTCCTTC	0.483																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3286-3288)Gaa>Taa		FYVE and coiled-coil domain containing 1							226	235	232					3																	46003868		2203	4300	6503	SO:0001587	stop_gained	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46003868C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3286G>T	3.37:g.46003868C>A	ENSP00000296137:p.Glu1096*					FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	11	3491	-			1096					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Nonsense_Mutation	SNP	ENST00000296137.2	37	c.3286G>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	42	9.285028	0.99125	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.91	2.19	0.27852	.	0.730351	0.13906	N	0.354608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-5.7671	5.0616	0.14560	0.1344:0.5818:0.0:0.2838	.	.	.	.	X	1096	.	ENSP00000296137:E1096X	E	-	1	0	FYCO1	45978872	0.023000	0.18921	0.007000	0.13788	0.360000	0.29518	1.351000	0.34022	0.413000	0.25759	-0.137000	0.14449	GAA		0.483	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		12	1102	1	0	0.000151284	0.000151284	0.00973904	12	1102					A	46003868	C	A	46003868	4	1	123	1	0	0	0	0	0	1	0	0	6152	893	31	3	1182	3	FYCO1	3	46003868	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1240892	46003868	152018562	81	38267											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000357496.2_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																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		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					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		7	329						7	329	---	---	---	---	-	49094316	TGC	-	49094314	7	5	123	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-YB-A89D-01A-12D-A36O-08	3090446	49094314	148928116	82	38268											
SPCS1	28972	broad.mit.edu	37	chr3	52741760	52741760	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctctcaagtggttacctgttCaagaatcaagcacagacgac	8	11	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:52741760C>A	ENST00000602728.1	+	4	410	c.241C>A	c.(241-243)Caa>Aaa	p.Q81K	GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000491606.1_5'Flank|SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000233025.7_Missense_Mutation_p.Q148K			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GTTACCTGTTCAAGAATCAAG	0.413																																						ENST00000233025.7																			0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(442-444)Caa>Aaa		signal peptidase complex subunit 1 homolog (S. cerevisiae)							123	126	125					3																	52741760		2203	4300	6503	SO:0001583	missense	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52741760C>A	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.241C>A	3.37:g.52741760C>A	ENSP00000473265:p.Gln81Lys					SPCS1_ENST00000602728.1_Missense_Mutation_p.Q81K|SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K	p.Q148K	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	4	852	+			148					B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37	c.442C>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.152679	0.78001	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	.	.	.	5.57	5.57	0.84162	.	0.311639	0.35555	N	0.003130	T	0.43590	0.1254	N	0.24115	0.695	0.51012	D	0.9999	P	0.43542	0.81	B	0.40741	0.339	T	0.27839	-1.0062	9	0.29301	T	0.29	-17.6896	19.5486	0.95309	0.0:1.0:0.0:0.0	.	148	Q9Y6A9	SPCS1_HUMAN	K	59;148	.	ENSP00000233025:Q148K	Q	+	1	0	SPCS1	52716800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.510000	0.73729	2.609000	0.88269	0.591000	0.81541	CAA		0.413	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		10	776	1	0	0.00010058	0.00010058	0.0072096	10	776					A	52741760	C	A	52741760	3	1	123	1	0	0	0	0	1	0	0	0	15075	827	29	3	456	3	SPCS1	3	52741760	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3647446	52741760	145280670	83	38269											
PRKCD	5580	broad.mit.edu	37	chr3	53222820	53222820	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgtgcaaagagaacatattCggggagagccgggccagcac	14	9	0	2	rs149751382		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:53222820C>A	ENST00000394729.2	+	15	1828	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L	PRKCD_ENST00000330452.3_Missense_Mutation_p.F500L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	500	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)	AGAACATATTCGGGGAGAGCC	0.597																																						ENST00000394729.2																			0				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						c.(1498-1500)ttC>ttA		protein kinase C, delta							92	93	93					3																	53222820		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53222820C>A		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.1500C>A	3.37:g.53222820C>A	ENSP00000378217:p.Phe500Leu					PRKCD_ENST00000330452.3_Missense_Mutation_p.F500L	p.F500L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		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)	15	1828	+		Ovarian(412;0.0728)	500			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1500C>A	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175623	0.21704	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.63913	-0.07;-0.07	6.07	-12.1	0.00011	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.521528	0.23696	N	0.045465	T	0.22166	0.0534	N	0.03071	-0.42	0.30448	N	0.775557	B	0.09022	0.002	B	0.13407	0.009	T	0.40117	-0.9580	10	0.06365	T	0.9	.	11.6792	0.51448	0.0:0.4833:0.244:0.2727	.	500	Q05655	KPCD_HUMAN	L	500	ENSP00000378217:F500L;ENSP00000331602:F500L	ENSP00000331602:F500L	F	+	3	2	PRKCD	53197860	0.000000	0.05858	0.000000	0.03702	0.906000	0.53458	-1.526000	0.02229	-1.962000	0.01014	-0.302000	0.09304	TTC		0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	317	1	0	0.000157383	0.000157383	0.00973904	8	317					A	53222820	C	A	53222820	3	1	123	1	0	0	0	0	1	0	0	0	12556	883	31	3	1554	3	PRKCD	3	53222820	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	481060	53222820	144799610	84	38270											
PTPRG	5793	broad.mit.edu	37	chr3	62268492	62268492	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacctttgaacttatcaacGtcatcaaggaagaggcctta	8	9	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:62268492G>A	ENST00000474889.1	+	28	4380	c.4003G>A	c.(4003-4005)Gtc>Atc	p.V1335I	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1335	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACTTATCAACGTCATCAAGGA	0.398																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4003-4005)Gtc>Atc		protein tyrosine phosphatase, receptor type, G							175	157	163					3																	62268492		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62268492G>A	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.4003G>A	3.37:g.62268492G>A	ENSP00000418112:p.Val1335Ile					PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.V1335I	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	28	4380	+			1335			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.4003G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036448	0.35893	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83250	-1.7;-1.7	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121307	0.56097	D	0.000033	T	0.56688	0.2002	N	0.00991	-1.07	0.58432	D	0.999999	B;P;B	0.39940	0.029;0.696;0.382	B;B;B	0.30401	0.011;0.115;0.036	T	0.65717	-0.6100	10	0.13853	T	0.58	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	581;1306;1335	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	I	1335;1306	ENSP00000418112:V1335I;ENSP00000295874:V1306I	ENSP00000295874:V1306I	V	+	1	0	PTPRG	62243532	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	6.473000	0.73572	2.799000	0.96334	0.650000	0.86243	GTC		0.398	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		92	809	0	0	0	0.000147903	0	92	809					A	62268492	G	A	62268492	3	1	123	1	0	0	0	0	1	0	0	0	12852	1145	40	1	4113	1	PTPRG	3	62268492	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	9045672	62268492	135753938	85	38271											
TMF1	7110	broad.mit.edu	37	chr3	69073265	69073265	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcttcaagttcatcattttGatttgttaatttaactagtt	4	6	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:69073265G>T	ENST00000398559.2	-	16	3295	c.3079C>A	c.(3079-3081)Caa>Aaa	p.Q1027K	CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q1030K|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					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)	p.Q1027E(1)		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)		TCATCATTTTGATTTGTTAAT	0.323																																						ENST00000543976.1																			1	Substitution - Missense(1)	p.Q1027E(1)	cervix(1)	cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(3088-3090)Caa>Aaa		TATA element modulatory factor 1							167	154	158					3																	69073265		1831	4077	5908	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69073265G>T		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.3079C>A	3.37:g.69073265G>T	ENSP00000381567:p.Gln1027Lys					CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.Q1027K|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	p.Q1030K	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		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)	16	3334	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	1027					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.3088C>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033173	0.35893	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.83335	-1.71;-1.71	5.59	5.59	0.84812	.	0.211058	0.42964	D	0.000637	T	0.75561	0.3866	L	0.41492	1.28	0.44834	D	0.997846	P;P	0.42871	0.792;0.454	B;B	0.34931	0.173;0.192	T	0.73805	-0.3867	10	0.16896	T	0.51	-16.7561	19.6022	0.95568	0.0:0.0:1.0:0.0	.	1030;1027	P82094-2;P82094	.;TMF1_HUMAN	K	1027;1030;943	ENSP00000381567:Q1027K;ENSP00000438706:Q1030K	ENSP00000348582:Q943K	Q	-	1	0	TMF1	69155955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.293000	0.78740	2.620000	0.88729	0.557000	0.71058	CAA		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		17	748	1	0	8.00594e-06	9.7654e-05	0.000889496	17	748					T	69073265	G	T	69073265	3	4	123	1	0	0	0	0	1	0	0	0	16280	1299	45	3	210	3	TMF1	3	69073265	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6804773	69073265	128949165	86	38272											
IMPG2	50939	broad.mit.edu	37	chr3	101038452	101038452	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gactttaaaatacttcacatGatttgccacagcctctgcaa	5	11	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:101038452G>T	ENST00000193391.7	-	2	497	c.310C>A	c.(310-312)Cat>Aat	p.H104N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	104					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)	TACTTCACATGATTTGCCACA	0.378																																						ENST00000193391.7																			0				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						c.(310-312)Cat>Aat		interphotoreceptor matrix proteoglycan 2							144	141	142					3																	101038452		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038452G>T	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.310C>A	3.37:g.101038452G>T	ENSP00000193391:p.His104Asn						p.H104N	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			2	497	-			104					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.310C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195273	0.78902	.	.	ENSG00000081148	ENST00000193391	T	0.77750	-1.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.79123	2.44	0.45762	D	0.998658	D	0.76494	0.999	D	0.83275	0.996	D	0.89522	0.3779	10	0.87932	D	0	-13.0185	17.6116	0.88055	0.0:0.0:1.0:0.0	.	104	Q9BZV3	IMPG2_HUMAN	N	104	ENSP00000193391:H104N	ENSP00000193391:H104N	H	-	1	0	IMPG2	102521142	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.023000	0.76437	2.590000	0.87494	0.563000	0.77884	CAT		0.378	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			12	860	1	0	2.31682e-05	2.31682e-05	0.00220351	12	860					T	101038452	G	T	101038452	3	4	123	1	0	0	0	0	1	0	0	0	7759	1290	45	3	3487	3	IMPG2	3	101038452	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	31965187	101038452	96983978	87	38273											
SLC9A10	285335	broad.mit.edu	37	chr3	111996678	111996678	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agaactaagatataattaacCaaaaagccgggaattgaaat	7	5	0	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:111996678C>A	ENST00000305815.5	-	5	600	c.348G>T	c.(346-348)ttG>ttT	p.L116F	SLC9C1_ENST00000467397.1_5'Flank|SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	116					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TATAATTAACCAAAAAGCCGG	0.313																																						ENST00000305815.5																			0											c.(346-348)ttG>ttT		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							54	61	58					3																	111996678		2197	4298	6495	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111996678C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.348G>T	3.37:g.111996678C>A	ENSP00000306627:p.Leu116Phe					SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F	p.L116F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			5	600	-			116					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.348G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.082	-0.666749	0.03428	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.03004	4.08;4.08;4.08	5.13	-7.8	0.01214	Cation/H+ exchanger (1);	1.635720	0.03751	N	0.256565	T	0.02304	0.0071	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.16289	0.015;0.011	T	0.43475	-0.9389	10	0.38643	T	0.18	.	0.9292	0.01331	0.4377:0.1391:0.1927:0.2305	.	116;116	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	116;116;43	ENSP00000306627:L116F;ENSP00000420688:L116F;ENSP00000417274:L43F	ENSP00000306627:L116F	L	-	3	2	SLC9A10	113479368	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.968000	0.00669	-1.204000	0.02648	-1.513000	0.00942	TTG		0.313	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		9	506	1	0	3.86212e-05	3.86212e-05	0.00332401	9	506					A	111996678	C	A	111996678	3	1	123	1	0	0	0	0	1	0	0	0	14760	593	21	3	3285	3	SLC9A10	3	111996678	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	10958226	111996678	86025752	88	38274											
SLC9A10	285335	broad.mit.edu	37	chr3	111999618	111999618	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaagtcttccaagtgcCggttcaaaaatgctgcaaaa	9	8	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:111999618C>A	ENST00000305815.5	-	3	353	c.101G>T	c.(100-102)cGg>cTg	p.R34L	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTCCAAGTGCCGGTTCAAAAA	0.323																																						ENST00000305815.5																			0											c.(100-102)cGg>cTg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							60	63	62					3																	111999618		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111999618C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>T	3.37:g.111999618C>A	ENSP00000306627:p.Arg34Leu					SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L	p.R34L	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN			3	353	-			34					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.101G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.595	-0.528154	0.04112	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78816	-1.21;-1.14	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.45135	0.1327	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33752	-0.9856	10	0.11182	T	0.66	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	34	ENSP00000306627:R34L;ENSP00000420688:R34L	ENSP00000306627:R34L	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		9	525	1	0	6.40141e-05	6.40141e-05	0.00496729	9	525					A	111999618	C	A	111999618	3	1	123	1	0	0	0	0	1	0	0	0	14760	652	23	3	3540	3	SLC9A10	3	111999618	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2940	111999618	86022812	89	38275											
ATP6V1A	523	broad.mit.edu	37	chr3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-													ccagagagtccttgatgcccTttttccgtaagtttgagatg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)cttfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	CTTGATGCCCTTTTTCCGTAA	0.423																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(709-711)ctfs		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							219	201	207					3																	113505224		2203	4300	6503	SO:0001589	frameshift_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113505224delT	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.710delT	3.37:g.113505224delT	ENSP00000273398:p.Leu237fs					ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	p.L237fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			6	818	+			237					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Frame_Shift_Del	DEL	ENST00000273398.3	37	c.710delT	CCDS2976.1																																																																																				0.423	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		7	1019						7	1019	---	---	---	---	-	113505224	T	-	113505224	7	5	123	1	0	1	0	1	0	0	0	0	1178	1609	56	0	728	0	ATP6V1A	3	113505224	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	1505606	113505224	84517206	90	38276											
EAF2	55840	broad.mit.edu	37	chr3	121573658	121573659	+	Frame_Shift_Ins	INS	-	-	A													ctcagcagcaacatcactgtINSaaaaaaaacaaggtatgtgg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:121573658_121573659insA	ENST00000273668.2	+	3	397_398	c.326_327insA	c.(325-330)gtaaaafs	p.VK109fs	EAF2_ENST00000451944.2_Frame_Shift_Ins_p.VK109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	109					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)		AACATCACTGTAAAAAAAACAA	0.248																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(325-327)gaafs		ELL associated factor 2																																				SO:0001589	frameshift_variant	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121573658_121573659insA	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.334dupA	3.37:g.121573666_121573666dupA	ENSP00000273668:p.Val109fs					EAF2_ENST00000451944.2_Frame_Shift_Ins_p.E109fs	p.E109fs	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	3	397_398	+			109					Q9NZ82	Frame_Shift_Ins	INS	ENST00000273668.2	37	c.326_327insA	CCDS3006.1																																																																																				0.248	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		7	819						7	819	---	---	---	---	A	121573659	-	A	121573658	7	5	123	1	0	1	1	0	0	0	0	0	4892	1638	57	0	336	0	EAF2	3	121573658	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	8068434	121573658	76448772	91	38277											
COL6A5	256076	broad.mit.edu	37	chr3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgatcaattatgaaaaagatCaaaaatctgcagaaattgca	6	5	3	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:130174477C>A	ENST00000432398.2	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2253K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical 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)		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333																																						ENST00000265379.6																			2	Substitution - Missense(2)	p.Q292K(1)|p.Q2253K(1)	kidney(2)	endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6757-6759)Caa>Aaa		collagen, type VI, alpha 5							49	48	49					3																	130174477		1804	4064	5868	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174477C>A	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.6757C>A	3.37:g.130174477C>A	ENSP00000390895:p.Gln2253Lys					COL6A5_ENST00000432398.2_Missense_Mutation_p.Q2253K	p.Q2253K			A8TX70	CO6A5_HUMAN			37	7251	+			2253			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6757C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.821|3.821	-0.037685|-0.037685	0.07497|0.07497	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.87;-0.75|.	4.26|4.26	0.026|0.026	0.14148|0.14148	.|.	2.119150|.	0.02670|.	N|.	0.108475|.	T|.	0.21841|.	0.0526|.	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.30031|.	-0.9992|.	10|.	0.02654|.	T|.	1|.	.|.	8.2937|8.2937	0.31973|0.31973	0.3027:0.5542:0.1431:0.0|0.3027:0.5542:0.1431:0.0	.|.	2253;2253|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|X	2253;2253;196;88|504	ENSP00000390895:Q2253K;ENSP00000265379:Q2253K;ENSP00000362250:Q196K;ENSP00000424968:Q88K|.	ENSP00000265379:Q2253K|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131657167|131657167	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.464000|-0.464000	0.06688|0.06688	0.170000|0.170000	0.19704|0.19704	-0.846000|-0.846000	0.03041|0.03041	CAA|TCA		0.333	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		8	321	1	0	2.17888e-05	2.17888e-05	0.00213033	8	321					A	130174477	C	A	130174477	3	1	123	1	0	0	0	0	1	0	0	0	3711	827	29	3	6899	3	COL6A5	3	130174477	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	8600819	130174477	67847953	92	38278											
ATR	545	broad.mit.edu	37	chr3	142231128	142231128	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtctaccttatttctgtttGatttgctgtgtggacatttc	8	7	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:142231128G>T	ENST00000350721.4	-	27	4947	c.4826C>A	c.(4825-4827)tCa>tAa	p.S1609*	ATR_ENST00000383101.3_Nonsense_Mutation_p.S1545*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1609					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						ATTTCTGTTTGATTTGCTGTG	0.388								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4825-4827)tCa>tAa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							197	175	183					3																	142231128		2203	4300	6503	SO:0001587	stop_gained	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142231128G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4826C>A	3.37:g.142231128G>T	ENSP00000343741:p.Ser1609*					ATR_ENST00000383101.3_Nonsense_Mutation_p.S1545*	p.S1609*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			27	4947	-			1609					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.4826C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	42	9.738096	0.99252	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	4.78	4.78	0.61160	.	1.479250	0.04545	N	0.388847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2296	17.8468	0.88732	0.0:0.0:1.0:0.0	.	.	.	.	X	1609;1545	.	ENSP00000343741:S1609X	S	-	2	0	ATR	143713818	1.000000	0.71417	0.771000	0.31576	0.384000	0.30261	5.979000	0.70508	2.205000	0.71048	0.460000	0.39030	TCA		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		12	599	1	0	0.000151284	0.000151284	0.00973904	12	599					T	142231128	G	T	142231128	4	4	123	1	0	0	0	0	0	1	0	0	1205	1294	45	3	3192	3	ATR	3	142231128	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12056651	142231128	55791302	93	38279											
PLCH1	23007	broad.mit.edu	37	chr3	155241698	155241698	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caacttacataatggagcttGaatttgcactcgtcttcaat	6	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:155241698G>T	ENST00000340059.7	-	10	1421	c.1422C>A	c.(1420-1422)ttC>ttA	p.F474L	PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L|PLCH1_ENST00000460012.1_Missense_Mutation_p.F456L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	474					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)			AATGGAGCTTGAATTTGCACT	0.423																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1366-1368)ttC>ttA		phospholipase C, eta 1							244	222	229					3																	155241698		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155241698G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1422C>A	3.37:g.155241698G>T	ENSP00000345988:p.Phe474Leu					PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000340059.7_Missense_Mutation_p.F474L|PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L|PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L	p.F456L			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1725	-			474					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1368C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484579	0.12641	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.48	-0.01	0.13998	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.215323	0.44483	D	0.000450	T	0.10551	0.0258	N	0.04018	-0.295	0.36115	D	0.845089	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.003;0.001	T	0.32929	-0.9888	10	0.02654	T	1	.	2.8455	0.05541	0.3453:0.0932:0.4209:0.1405	.	456;474;474	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	474;456;474;474;456;456	ENSP00000419100:F474L;ENSP00000417502:F456L;ENSP00000402759:F474L;ENSP00000345988:F474L;ENSP00000335469:F456L;ENSP00000412977:F456L	ENSP00000335469:F456L	F	-	3	2	PLCH1	156724392	0.992000	0.36948	0.998000	0.56505	0.985000	0.73830	0.126000	0.15769	0.036000	0.15547	0.563000	0.77884	TTC		0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		13	615	1	0	0.000151284	0.000151284	0.00973904	13	615					T	155241698	G	T	155241698	3	4	123	1	0	0	0	0	1	0	0	0	12079	1281	45	3	3730	3	PLCH1	3	155241698	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	13010570	155241698	42780732	94	38280											
SI	6476	broad.mit.edu	37	chr3	164757744	164757744	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgtcctcaatccagctgttCgtatcctcataaaacctaag	6	12	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:164757744C>A	ENST00000264382.3	-	19	2237	c.2175G>T	c.(2173-2175)acG>acT	p.T725T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	725	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCAGCTGTTCGTATCCTCAT	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2173-2175)acG>acT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						119	122	121					3																	164757744		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757744C>A	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.2175G>T	3.37:g.164757744C>A		HNSCC(35;0.089)					p.T725T	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			19	2237	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	725			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2175G>T	CCDS3196.1																																																																																				0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	859	1	0	2.17888e-05	2.17888e-05	0.00213033	10	859					A	164757744	C	A	164757744	2	1	123	1	0	0	0	0	0	0	0	1	14347	871	31	3		3	SI	3	164757744	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9516046	164757744	33264686	95	38281											
ECT2	1894	broad.mit.edu	37	chr3	172473162	172473162	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aagaacttataaaagccttaAaggtacggagttttaggttt	9	4	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:172473162A>C	ENST00000392692.3	+	3	384	c.208A>C	c.(208-210)Aag>Cag	p.K70Q	ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000417960.1_Missense_Mutation_p.K69Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	70					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGCCTTAAAGGTACGGAG	0.313																																						ENST00000417960.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(205-207)Aag>Cag		epithelial cell transforming sequence 2 oncogene							97	104	101					3																	172473162		2203	4298	6501	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172473162A>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.208A>C	3.37:g.172473162A>C	ENSP00000376457:p.Lys70Gln					ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q|ECT2_ENST00000392692.3_Missense_Mutation_p.K70Q	p.K69Q	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		4	682	+	Ovarian(172;0.00197)|Breast(254;0.158)		70					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.205A>C	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234752	0.09969	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.02;-0.19;-0.04;-0.02;0.97;0.93;0.87;1.01;0.87;-0.02;-0.19	5.58	3.14	0.36123	.	0.162995	0.56097	N	0.000021	T	0.31949	0.0813	N	0.11560	0.145	0.32649	N	0.51964	B;B;B;B	0.16166	0.005;0.015;0.001;0.016	B;B;B;B	0.20184	0.008;0.028;0.011;0.006	T	0.34576	-0.9823	10	0.02654	T	1	-6.7187	3.8864	0.09100	0.5385:0.1802:0.2813:0.0	.	70;70;70;69	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	70;70;70;69;69;70;70;70;70;70;70	ENSP00000232458:K70Q;ENSP00000376457:K70Q;ENSP00000401910:K70Q;ENSP00000415876:K69Q;ENSP00000403501:K69Q;ENSP00000412331:K70Q;ENSP00000403446:K70Q;ENSP00000412028:K70Q;ENSP00000389108:K70Q;ENSP00000412259:K70Q;ENSP00000443160:K70Q	ENSP00000232458:K70Q	K	+	1	0	ECT2	173955856	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.277000	0.33167	0.384000	0.24942	0.402000	0.26972	AAG		0.313	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		28	236	0	0	0	2.90539e-05	0	28	236					C	172473162	A	C	172473162	3	2	123	1	0	0	0	0	1	0	0	0	4917	15	1	4	214	4	ECT2	3	172473162	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	7715418	172473162	25549268	96	38282											
YEATS2	55689	broad.mit.edu	37	chr3	183493803	183493805	+	In_Frame_Del	DEL	AGG	AGG	-													agcggtggaggcggcagcacAggaggaggaggaggaacagc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:183493803_183493805delAGG	ENST00000305135.5	+	18	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	828	Gly-rich.				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)			gcggcagcacaggaggaggagga	0.601																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2467-2472)aca>ac		YEATS domain containing 2				11,3931		1,9,1961						1.8	0			64	13,8041		0,13,4014	no	coding	YEATS2	NM_018023.4		1,22,5975	A1A1,A1R,RR		0.1614,0.279,0.2001				24,11972				SO:0001651	inframe_deletion	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183493803_183493805delAGG	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.2469_2471delAGG	3.37:g.183493812_183493814delAGG	ENSP00000306983:p.Gly828del						p.TG823del	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		18	2664_2666	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		823			Gly-rich.		A7E2B9|D3DNS9|Q641P6|Q9NW96	In_Frame_Del	DEL	ENST00000305135.5	37	c.2469_2471delAGG	CCDS43175.1																																																																																				0.601	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		7	278						7	278	---	---	---	---	-	183493805	AGG	-	183493803	7	5	123	1	0	1	0	1	0	0	0	0	17526	175	7	0	2535	0	YEATS2	3	183493803	In_Frame_Del	DEL	AGG	TCGA-YB-A89D-01A-12D-A36O-08	11020641	183493803	14528627	97	38283											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A													aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	879						7	879	---	---	---	---	A	185212518	-	A	185212517	7	5	123	1	0	1	1	0	0	0	0	0	16216	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	1718714	185212517	12809913	98	38284											
ST6GAL1	6480	broad.mit.edu	37	chr3	186791961	186791961	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttcagtggtaccagaatccGgattataatttctttaacaa	6	7	2	1	rs369650964		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:186791961G>T	ENST00000169298.3	+	7	1493	c.819G>T	c.(817-819)ccG>ccT	p.P273P	ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACCAGAATCCGGATTATAATT	0.483																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(817-819)ccG>ccT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							95	100	98					3																	186791961		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186791961G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.819G>T	3.37:g.186791961G>T						ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	7	1493	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		273					A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.819G>T	CCDS3285.1																																																																																				0.483	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		9	648	1	0	3.07112e-06	6.40141e-05	0.00037162	9	648					T	186791961	G	T	186791961	2	4	123	1	0	0	0	0	0	0	0	1	15273	1103	39	3		3	ST6GAL1	3	186791961	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1579444	186791961	11230469	99	38285											
ATP13A3	79572	broad.mit.edu	37	chr3	194181471	194181473	+	In_Frame_Del	DEL	GAG	GAG	-													cgccactcaggcatccaataGaggaggaggaggagaaaccc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:194181471_194181473delGAG	ENST00000439040.1	-	4	930_932	c.139_141delCTC	c.(139-141)ctcdel	p.L47del	ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del			Q9H7F0	AT133_HUMAN	ATPase type 13A3	47						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)		GCATCCAATAGAGGAGGAGGAGG	0.463																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(139-141)del		ATPase type 13A3																																				SO:0001651	inframe_deletion	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194181471_194181473delGAG	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.139_141delCTC	3.37:g.194181480_194181482delGAG	ENSP00000416508:p.Leu47del					ATP13A3_ENST00000256031.4_In_Frame_Del_p.L47del	p.L47del			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	4	930_932	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	47					Q8NC11|Q96KS1	In_Frame_Del	DEL	ENST00000439040.1	37	c.139_141delCTC	CCDS43187.1																																																																																				0.463	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	635						7	635	---	---	---	---	-	194181473	GAG	-	194181471	7	5	123	1	0	1	0	1	0	0	0	0	1126	929	33	0	3659	0	ATP13A3	3	194181471	In_Frame_Del	DEL	GAG	TCGA-YB-A89D-01A-12D-A36O-08	7389510	194181471	3840959	100	38286											
PPP1R2	5504	broad.mit.edu	37	chr3	195245823	195245823	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cagacatctaaccttgatttGattcttccgtattcatgctt	5	10	3	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195245823G>T	ENST00000328432.3	-	5	923	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	188					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)		ACCTTGATTTGATTCTTCCGT	0.338																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(562-564)tCa>tAa		protein phosphatase 1, regulatory (inhibitor) subunit 2							232	232	232					3																	195245823		2203	4300	6503	SO:0001587	stop_gained	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195245823G>T	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.563C>A	3.37:g.195245823G>T	ENSP00000328178:p.Ser188*						p.S188*	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	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)	5	923	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		188						Nonsense_Mutation	SNP	ENST00000328432.3	37	c.563C>A	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	37	6.356746	0.97502	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	4.93	4.93	0.64822	.	0.303685	0.31415	N	0.007686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.375	0.66867	0.0:0.0:1.0:0.0	.	.	.	.	X	188;162	.	ENSP00000328178:S188X	S	-	2	0	PPP1R2	196727112	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.090000	0.41682	2.663000	0.90544	0.467000	0.42956	TCA		0.338	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		13	550	1	0	2.31682e-05	2.31682e-05	0.00220351	13	550					T	195245823	G	T	195245823	4	4	123	1	0	0	0	0	0	1	0	0	12417	1294	45	3	62	3	PPP1R2	3	195245823	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1064352	195245823	2776607	101	38287											
RGS12	6002	broad.mit.edu	37	chr4	3419185	3419185	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggacagcgagaagaagcGgaaaggcgcgtttttctcgt	15	7	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:3419185G>T	ENST00000344733.5	+	9	3582	c.2678G>T	c.(2677-2679)cGg>cTg	p.R893L	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.R893L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	893					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)		GAGAAGAAGCGGAAAGGCGCG	0.552																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2677-2679)cGg>cTg		regulator of G-protein signaling 12							55	57	56					4																	3419185		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419185G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2678G>T	4.37:g.3419185G>T	ENSP00000339381:p.Arg893Leu					RGS12_ENST00000344733.5_Missense_Mutation_p.R893L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L|RGS12_ENST00000508158.1_3'UTR	p.R893L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3582	+			893					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2678G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440438	0.43326	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37235	1.49;1.49;1.49;1.21;1.23;1.26	4.34	4.34	0.51931	.	0.065361	0.64402	D	0.000019	T	0.49508	0.1561	M	0.65975	2.015	0.09310	N	0.999992	P;D;P;D;D;B;P;D;P	0.60575	0.896;0.988;0.802;0.988;0.977;0.393;0.896;0.968;0.937	P;P;P;P;D;B;P;P;P	0.63703	0.604;0.724;0.483;0.724;0.917;0.169;0.676;0.734;0.822	T	0.39418	-0.9615	10	0.42905	T	0.14	-19.7633	6.3948	0.21607	0.2155:0.0:0.7845:0.0	.	235;92;235;92;235;245;291;893;893	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	L	893;893;893;291;245;235	ENSP00000339381:R893L;ENSP00000338509:R893L;ENSP00000372238:R893L;ENSP00000304459:R291L;ENSP00000342133:R245L;ENSP00000438888:R235L	ENSP00000304459:R291L	R	+	2	0	RGS12	3388983	0.980000	0.34600	0.041000	0.18516	0.357000	0.29423	4.395000	0.59678	1.982000	0.57802	0.563000	0.77884	CGG		0.552	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		8	275	1	0	0.00010058	0.00010058	0.0072096	8	275					T	3419185	G	T	3419185	3	4	123	1	0	0	0	0	1	0	0	0	13345	1116	39	3	2766	3	RGS12	4	3419185	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08		3419185	187735091	102	38288											
SLIT2	9353	broad.mit.edu	37	chr4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaaagcaagaaattccGttgttcaggtaatttcttca	7	7	4	1	rs192894188		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17529	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1429-1431)cGt>cAt		slit homolog 2 (Drosophila)							86	98	94					4																	20525792		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525792G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1430G>A	4.37:g.20525792G>A	ENSP00000422591:p.Arg477His					SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H	p.R477H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			14	1682	+			477			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1430G>A	CCDS3426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.335323	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.45;-1.46;-1.37;-1.43	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	D	0.87886	0.2681	10	0.72032	D	0.01	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	477;477	O94813-3;O94813	.;SLIT2_HUMAN	H	477;477;481;481;481	ENSP00000427548:R477H;ENSP00000422591:R477H;ENSP00000273739:R481H;ENSP00000422261:R481H	ENSP00000273739:R481H	R	+	2	0	SLIT2	20134890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	CGT		0.478	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			114	398	0	0	0	0.000147903	0	114	398					A	20525792	G	A	20525792	3	1	123	1	0	0	0	0	1	0	0	0	14790	1145	40	1	1484	1	SLIT2	4	20525792	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17106607	20525792	170628484	103	38289											
SLIT2	9353	broad.mit.edu	37	chr4	20541152	20541152	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctttctttgtatgataatCaaattactacagttgcacca	5	8	2	1	rs553808717		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20541152C>A	ENST00000504154.1	+	19	2173	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	641					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)	p.Q641K(1)		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						GTATGATAATCAAATTACTAC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14976	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1																			1	Substitution - Missense(1)	p.Q641K(1)	kidney(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1921-1923)Caa>Aaa		slit homolog 2 (Drosophila)							136	129	131					4																	20541152		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541152C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1921C>A	4.37:g.20541152C>A	ENSP00000422591:p.Gln641Lys					SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K	p.Q641K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			19	2173	+			641					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1921C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376165	0.61735	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.88	5.88	0.94601	.	0.050442	0.85682	D	0.000000	T	0.42404	0.1201	L	0.38692	1.165	0.58432	D	0.999999	B;P	0.39920	0.008;0.695	B;B	0.32724	0.016;0.151	T	0.26916	-1.0089	10	0.16420	T	0.52	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	633;641	O94813-3;O94813	.;SLIT2_HUMAN	K	633;641;645;637;637	ENSP00000427548:Q633K;ENSP00000422591:Q641K;ENSP00000273739:Q645K;ENSP00000422261:Q637K	ENSP00000273739:Q645K	Q	+	1	0	SLIT2	20150250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.036000	0.70948	2.780000	0.95670	0.655000	0.94253	CAA		0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			12	782	1	0	6.40141e-05	6.40141e-05	0.00496729	12	782					A	20541152	C	A	20541152	3	1	123	1	0	0	0	0	1	0	0	0	14790	827	29	3	1995	3	SLIT2	4	20541152	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	15360	20541152	170613124	104	38290											
GUF1	60558	broad.mit.edu	37	chr4	44693722	44693722	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaatatgatatttattgatCaaaatagagttatgcttaaa	6	2	1	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:44693722C>A	ENST00000281543.5	+	13	1713	c.1519C>A	c.(1519-1521)Caa>Aaa	p.Q507K	RP11-700J17.1_ENST00000610260.1_RNA|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						ATTTATTGATCAAAATAGAGT	0.318																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1519-1521)Caa>Aaa		GUF1 GTPase homolog (S. cerevisiae)							91	103	99					4																	44693722		2200	4279	6479	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44693722C>A		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.1519C>A	4.37:g.44693722C>A	ENSP00000281543:p.Gln507Lys					GUF1_ENST00000506793.1_3'UTR	p.Q507K	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			13	1713	+			507						Missense_Mutation	SNP	ENST00000281543.5	37	c.1519C>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876613	0.33162	.	.	ENSG00000151806	ENST00000281543	T	0.62105	0.05	5.11	2.31	0.28768	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.289069	0.37348	N	0.002131	T	0.47948	0.1473	N	0.17278	0.47	0.26066	N	0.981284	B	0.19331	0.035	B	0.21151	0.033	T	0.35400	-0.9790	10	0.42905	T	0.14	-3.6133	17.6166	0.88069	0.0:0.3381:0.6619:0.0	.	507	Q8N442	GUF1_HUMAN	K	507	ENSP00000281543:Q507K	ENSP00000281543:Q507K	Q	+	1	0	GUF1	44388479	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.451000	0.66632	0.218000	0.20820	-0.165000	0.13383	CAA		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		12	1033	1	0	5.50884e-06	0.00010058	0.000617672	12	1033					A	44693722	C	A	44693722	3	1	123	1	0	0	0	0	1	0	0	0	6929	827	29	3	1569	3	GUF1	4	44693722	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	24152570	44693722	146460554	105	38291											
FRYL	285527	broad.mit.edu	37	chr4	48503669	48503669	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	attttttatcgtatttacttGgttgataagtttacagtagg	8	3	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:48503669G>T	ENST00000503238.1	-	59	8562	c.8563C>A	c.(8563-8565)Caa>Aaa	p.Q2855K	FRYL_ENST00000537810.1_Missense_Mutation_p.Q2855K|FRYL_ENST00000264319.7_Missense_Mutation_p.Q245K|FRYL_ENST00000507873.2_Missense_Mutation_p.Q245K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2855K			O94915	FRYL_HUMAN	FRY-like	2855					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						GTATTTACTTGGTTGATAAGT	0.294																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8563-8565)Caa>Aaa		FRY-like							168	165	166					4																	48503669		1810	4078	5888	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503669G>T	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.8563C>A	4.37:g.48503669G>T	ENSP00000426064:p.Gln2855Lys					FRYL_ENST00000503238.1_Missense_Mutation_p.Q2855K|FRYL_ENST00000507873.2_Missense_Mutation_p.Q245K|FRYL_ENST00000264319.7_Missense_Mutation_p.Q245K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2855K	p.Q2855K			O94915	FRYL_HUMAN			62	9167	-			2855					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8563C>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684944	0.14973	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23348	1.91;1.91;1.91	5.45	5.45	0.79879	.	0.158893	0.41396	U	0.000881	T	0.26340	0.0643	L	0.47716	1.5	0.49483	D	0.999798	B;B;B	0.24092	0.032;0.097;0.0	B;B;B	0.24701	0.025;0.055;0.001	T	0.06734	-1.0810	10	0.13853	T	0.58	.	19.6539	0.95828	0.0:0.0:1.0:0.0	.	2855;2855;245	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	K	2855;2855;2855;245;245	ENSP00000426064:Q2855K;ENSP00000351113:Q2855K;ENSP00000441114:Q2855K	ENSP00000264319:Q245K	Q	-	1	0	FRYL	48198426	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.566000	0.60843	2.719000	0.93026	0.484000	0.47621	CAA		0.294	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			13	1043	1	0	0.000151284	0.000151284	0.00973904	13	1043					T	48503669	G	T	48503669	3	4	123	1	0	0	0	0	1	0	0	0	6091	1357	47	3	490	3	FRYL	4	48503669	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3809947	48503669	142650607	106	38292											
SPATA18	132671	broad.mit.edu	37	chr4	52960706	52960706	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccagatgtctcgaagtcGgagtccttctccaataagat	8	10	2	2	rs562919654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:52960706G>A	ENST00000295213.4	+	12	1951	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					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)			TCTCGAAGTCGGAGTCCTTCT	0.348																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1576-1578)cGg>cAg		spermatogenesis associated 18							116	121	119					4																	52960706		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960706G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"spermatogenesis associated 18 homolog (rat)"			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1577G>A	4.37:g.52960706G>A	ENSP00000295213:p.Arg526Gln					SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	p.R526Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1951	+			526					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1577G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719010	0.89205	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36340	1.26;1.29	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.55955	0.1953	M	0.61703	1.905	0.38418	D	0.946104	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.60459	-0.7259	10	0.66056	D	0.02	-9.9646	13.6443	0.62272	0.0:0.0:1.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	Q	526;494	ENSP00000295213:R526Q;ENSP00000415309:R494Q	ENSP00000295213:R526Q	R	+	2	0	SPATA18	52655463	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.694000	0.61760	2.677000	0.91161	0.655000	0.94253	CGG		0.348	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		118	478	0	0	0	0.000147903	0	118	478					A	52960706	G	A	52960706	3	1	123	1	0	0	0	0	1	0	0	0	15055	1116	39	1	1623	1	SPATA18	4	52960706	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4457037	52960706	138193570	107	38293											
CEP135	9662	broad.mit.edu	37	chr4	56890672	56890672	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatctttactaacagagaacGagcaatccaagagatgcgtc	9	9	1	2	rs368917402		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:56890672G>T	ENST00000257287.4	+	25	3450	c.3326G>T	c.(3325-3327)cGa>cTa	p.R1109L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1109					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)	p.R1109L(1)		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)					AACAGAGAACGAGCAATCCAA	0.378																																						ENST00000257287.4																			1	Substitution - Missense(1)	p.R1109L(1)	lung(1)	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						c.(3325-3327)cGa>cTa		centrosomal protein 135kDa							198	186	190					4																	56890672		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56890672G>T	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.3326G>T	4.37:g.56890672G>T	ENSP00000257287:p.Arg1109Leu						p.R1109L	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN			25	3450	+	Glioma(25;0.08)|all_neural(26;0.101)		1109					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.3326G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294174	0.81025	.	.	ENSG00000174799	ENST00000257287	T	0.15952	2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46884	-0.9159	10	0.62326	D	0.03	.	19.7006	0.96050	0.0:0.0:1.0:0.0	.	1109	Q66GS9	CP135_HUMAN	L	1109	ENSP00000257287:R1109L	ENSP00000257287:R1109L	R	+	2	0	CEP135	56585429	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.130000	0.77235	2.664000	0.90586	0.650000	0.86243	CGA		0.378	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		11	1268	1	0	0.000157383	0.000157383	0.00973904	11	1268					T	56890672	G	T	56890672	3	4	123	1	0	0	0	0	1	0	0	0	3256	1058	37	3	3420	3	CEP135	4	56890672	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3929966	56890672	134263604	108	38294											
UGT2B10	7365	broad.mit.edu	37	chr4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	attttaaatttcctcatccaTtcttaccaaatgttgatttt	2	8	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(805-807)Ttc>Ctc		UDP glucuronosyltransferase 2 family, polypeptide B10							161	168	166					4																	69683833		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683833T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"UDP glucuronosyltransferases"	12544	protein-coding gene	gene with protein product		600070	"UDP glycosyltransferase 2 family, polypeptide B10"			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.805T>C	4.37:g.69683833T>C	ENSP00000265403:p.Phe269Leu					UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	p.F269L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			2	832	+			269					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.805T>C		.	.	.	.	.	.	.	.	.	.	t	0.001	-2.962311	0.00049	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.54675	0.56;0.56	2.66	-5.02	0.02982	.	0.305292	0.30277	N	0.009989	T	0.13884	0.0336	N	0.02169	-0.655	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.24905	-1.0147	10	0.02654	T	1	.	3.7802	0.08677	0.2656:0.2148:0.0:0.5196	.	185;269	B4DPP1;P36537	.;UDB10_HUMAN	L	269;185	ENSP00000265403:F269L;ENSP00000413420:F185L	ENSP00000265403:F269L	F	+	1	0	UGT2B10	69718422	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-1.970000	0.01003	-2.800000	0.00114	TTC		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		7	1122	0	0	0	3.59834e-05	0	7	1122					C	69683833	T	C	69683833	3	2	123	1	0	0	0	0	1	0	0	0	17010	1493	52	4	811	4	UGT2B10	4	69683833	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	12793161	69683833	121470443	109	38295											
AMBN	258	broad.mit.edu	37	chr4	71468533	71468533	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	1	0	1	1	0	0	0	0	agctcccaggaatggattttCctgatccacaaggtccatca	8	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:71468533C>G	ENST00000322937.6	+	8	692	c.589C>G	c.(589-591)Cct>Gct	p.P197A	AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	197					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)			AATGGATTTTCCTGATCCACA	0.259																																						ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(589-591)Cct>Gct		ameloblastin (enamel matrix protein)																																				SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71468533C>G	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.589C>G	4.37:g.71468533C>G	ENSP00000313809:p.Pro197Ala					AMBN_ENST00000449493.2_Missense_Mutation_p.P182A	p.P197A	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		8	692	+			197					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.589C>G	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167250	0.01660	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.31510	1.56;1.49	2.61	-3.06	0.05379	.	1.468300	0.05127	N	0.491847	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	10	0.40728	T	0.16	.	3.1109	0.06357	0.1148:0.4467:0.2775:0.161	.	197	Q9NP70	AMBN_HUMAN	A	197;196;182	ENSP00000313809:P197A;ENSP00000391234:P182A	ENSP00000313809:P197A	P	+	1	0	AMBN	71503122	0.998000	0.40836	0.078000	0.20375	0.037000	0.13140	0.079000	0.14782	-0.882000	0.03987	-2.796000	0.00114	CCT		0.259	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		6	392	0	0	0	1.64113e-05	0	6	392					G	71468533	C	G	71468533	3	3	123	1	0	0	0	0	1	0	0	0	563	855	30	5	619	5	AMBN	4	71468533	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1784700	71468533	119685743	110	38296											
CCDC158	339965	broad.mit.edu	37	chr4	77276555	77276555	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atctgacctcttttggctgtGatttgcttttgcatccccat	7	11	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:77276555G>T	ENST00000388914.3	-	14	2360	c.2208C>A	c.(2206-2208)atC>atA	p.I736I	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	736										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTGGCTGTGATTTGCTTTT	0.408																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2206-2208)atC>atA		coiled-coil domain containing 158							238	218	224					4																	77276555		1902	4126	6028	SO:0001819	synonymous_variant	339965							g.chr4:77276555G>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2208C>A	4.37:g.77276555G>T							p.I736I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			14	2360	-			736					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.2208C>A	CCDS43242.1																																																																																				0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		15	838	1	0	0.000132079	0.000132079	0.00935769	15	838					T	77276555	G	T	77276555	2	4	123	1	0	0	0	0	0	0	0	1	2797	1280	45	3		3	CCDC158	4	77276555	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5808022	77276555	113877721	111	38297											
PRDM8	56978	broad.mit.edu	37	chr4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-													gcggcggcggtggcaaagacCagcagcagcagcagcaggag							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				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						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	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.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			7	263						7	263	---	---	---	---	-	81123252	CAG	-	81123250	7	5	123	1	0	1	0	1	0	0	0	0	12509	595	21	0	644	0	PRDM8	4	81123250	In_Frame_Del	DEL	CAG	TCGA-YB-A89D-01A-12D-A36O-08	3846695	81123250	110031026	112	38298											
SEC31A	22872	broad.mit.edu	37	chr4	83785564	83785565	+	Frame_Shift_Ins	INS	-	-	T													ttcagtctgagaagcatcaaINStttttttttggcaataattg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:83785564_83785565insT	ENST00000395310.2	-	11	1566_1567	c.1384_1385insA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000432794.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.I234fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.I457fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.I462fs	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)	462	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AGAAGCATCAATTTTTTTTTGG	0.356																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)tgafs		SEC31 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785564_83785565insT	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.1385dupA	4.37:g.83785573_83785573dupT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000436790.2_5'UTR	p.*462fs			O94979	SC31A_HUMAN			11	1547_1548	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Ins	INS	ENST00000395310.2	37	c.1384_1385insA	CCDS3596.1																																																																																				0.356	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		10	460						10	460	---	---	---	---	T	83785565	-	T	83785564	7	5	123	1	0	1	1	0	0	0	0	0	14048	101	4	0	2345	0	SEC31A	4	83785564	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	2662314	83785564	107368712	113	38299											
WDFY3	23001	broad.mit.edu	37	chr4	85741302	85741302	+	Frame_Shift_Del	DEL	T	T	-													ataaccaataaagccaggtgTttttggtcttcaactgaact							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:85741302delT	ENST00000295888.4	-	12	2036	c.1629delA	c.(1627-1629)aaafs	p.K543fs	WDFY3_ENST00000322366.6_Frame_Shift_Del_p.K543fs	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	543					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)		AAGCCAGGTGTTTTTGGTCTT	0.353																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(1627-1629)aafs		WD repeat and FYVE domain containing 3							182	195	190					4																	85741302		2203	4300	6503	SO:0001589	frameshift_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85741302delT	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.1629delA	4.37:g.85741302delT	ENSP00000295888:p.Lys543fs					WDFY3_ENST00000295888.4_Frame_Shift_Del_p.K543fs	p.K543fs			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	12	2036	-		Hepatocellular(203;0.114)	543					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Frame_Shift_Del	DEL	ENST00000295888.4	37	c.1629delA	CCDS3609.1																																																																																				0.353	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		8	1693						8	1693	---	---	---	---	-	85741302	T	-	85741302	7	5	123	1	0	1	0	1	0	0	0	0	17324	1722	60	0	9222	0	WDFY3	4	85741302	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	1955738	85741302	105412974	114	38300											
NUDT9	53343	broad.mit.edu	37	chr4	88344097	88344098	+	Frame_Shift_Del	DEL	TC	TC	-													gaaaggctttagccgcggtgTctctctctctggccttggcc					rs151296797		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:88344097_88344098delTC	ENST00000302174.4	+	1	364_365	c.40_41delTC	c.(40-42)tctfs	p.S14fs	NUDT9_ENST00000473942.1_Intron	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	14					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AGCCGCGGTGTCTCTCTCTCTG	0.649																																						ENST00000302174.4																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(40-42)tfs		nudix (nucleoside diphosphate linked moiety X)-type motif 9			,	3,4263		1,1,2131					,	4.1	1			74	1,8253		0,1,4126	no	intron,frameshift	NUDT9	NM_198038.1,NM_024047.3	,	1,2,6257	A1A1,A1R,RR		0.0121,0.0703,0.0319	,	,		4,12516				SO:0001589	frameshift_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88344097_88344098delTC	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"Nudix motif containing"	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.40_41delTC	4.37:g.88344105_88344106delTC	ENSP00000303575:p.Ser14fs					NUDT9_ENST00000473942.1_Intron	p.S14fs	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	1	364_365	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	14					Q8NBN1|Q8NCB9|Q8NG25	Frame_Shift_Del	DEL	ENST00000302174.4	37	c.40_41delTC	CCDS3620.1																																																																																				0.649	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2			9	496						9	496	---	---	---	---	-	88344098	TC	-	88344097	7	5	123	1	0	1	0	1	0	0	0	0	10788	1667	58	0	42	0	NUDT9	4	88344097	Frame_Shift_Del	DEL	TC	TCGA-YB-A89D-01A-12D-A36O-08	2602795	88344097	102810179	115	38301											
ADH1A	124	broad.mit.edu	37	chr4	100203666	100203666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgttgatgtccaccGcaatgattctggctgcccca	9	13	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:100203666G>A	ENST00000209668.2	-	6	778	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	222					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GATGTCCACCGCAATGATTCT	0.532																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(664-666)gCg>gTg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						286	289	288					4																	100203666		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100203666G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.665C>T	4.37:g.100203666G>A	ENSP00000209668:p.Ala222Val					RP11-696N14.1_ENST00000500358.2_RNA	p.A222V	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	6	778	-			222					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.665C>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588433	0.28357	.	.	ENSG00000187758	ENST00000209668	T	0.04970	3.52	3.11	-0.519	0.11939	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.245941	0.39146	N	0.001456	T	0.19446	0.0467	M	0.74881	2.28	0.27511	N	0.951696	P;D	0.76494	0.877;0.999	B;P	0.60541	0.175;0.876	T	0.10405	-1.0631	10	0.59425	D	0.04	-7.6741	15.9733	0.80036	0.0:0.6313:0.3687:0.0	.	13;222	B4E1R1;P07327	.;ADH1A_HUMAN	V	222	ENSP00000209668:A222V	ENSP00000209668:A222V	A	-	2	0	ADH1A	100422689	0.001000	0.12720	0.529000	0.27951	0.148000	0.21650	-0.192000	0.09587	0.061000	0.16311	0.460000	0.39030	GCG		0.532	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		32	1421	0	0	0	7.16444e-05	0	32	1421					A	100203666	G	A	100203666	3	1	123	1	0	0	0	0	1	0	0	0	307	1087	38	1	478	1	ADH1A	4	100203666	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11859569	100203666	90950610	116	38302											
EGF	1950	broad.mit.edu	37	chr4	110885582	110885582	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caaccatttttgctgtttgcCaattctcaagatattcgaca	5	10	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:110885582C>A	ENST00000265171.5	+	10	1909	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	488					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)	TGCTGTTTGCCAATTCTCAAG	0.418																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1462-1464)gcC>gcA		epidermal growth factor	Sulindac(DB00605)						208	191	197					4																	110885582		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110885582C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1464C>A	4.37:g.110885582C>A						EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	p.A488A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	10	1909	+		Hepatocellular(203;0.0893)	488					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.1464C>A	CCDS3689.1																																																																																				0.418	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			10	839	1	0	5.50884e-06	0.00010058	0.000617672	10	839					A	110885582	C	A	110885582	2	1	123	1	0	0	0	0	0	0	0	1	4978	581	21	3		3	EGF	4	110885582	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	10681916	110885582	80268694	117	38303											
TIFA	92610	broad.mit.edu	37	chr4	113199421	113199421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aatgacagatgttggaatttCggccaaatttcaccacttcg	8	9	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:113199421C>A	ENST00000361717.3	-	2	433	c.152G>T	c.(151-153)cGa>cTa	p.R51L	TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	51	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		GTTGGAATTTCGGCCAAATTT	0.413																																						ENST00000361717.2																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(151-153)cGa>cTa		TRAF-interacting protein with forkhead-associated domain							80	91	88					4																	113199421		2199	4295	6494	SO:0001583	missense	92610						protein binding	g.chr4:113199421C>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"TRAF2 binding protein", "TRAF6 binding protein"	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.152G>T	4.37:g.113199421C>A	ENSP00000354911:p.Arg51Leu					TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	433	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	51			FHA.			Missense_Mutation	SNP	ENST00000361717.3	37	c.152G>T	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038362	0.93630	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.74106	-0.81;-0.81	5.92	5.92	0.95590	Forkhead-associated (FHA) domain (4);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87214	0.2249	10	0.87932	D	0	-16.928	20.3343	0.98733	0.0:1.0:0.0:0.0	.	51	Q96CG3	TIFA_HUMAN	L	51	ENSP00000354911:R51L;ENSP00000424231:R51L	ENSP00000354911:R51L	R	-	2	0	TIFA	113418870	0.999000	0.42202	0.960000	0.40013	0.980000	0.70556	4.514000	0.60482	2.822000	0.97130	0.650000	0.86243	CGA		0.413	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	NM_052864		14	887	1	0	2.31682e-05	2.31682e-05	0.00220351	14	887					A	113199421	C	A	113199421	3	1	123	1	0	0	0	0	1	0	0	0	15946	884	31	3	406	3	TIFA	4	113199421	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2313839	113199421	77954855	118	38304											
CLGN	1047	broad.mit.edu	37	chr4	141313402	141313402	+	Frame_Shift_Del	DEL	T	T	-													gcatttcaccatcattttgcTttttttcctcttccaggtcc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:141313402delT	ENST00000325617.5	-	13	2062	c.1622delA	c.(1621-1623)aagfs	p.K541fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	541					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ATCATTTTGCTTTTTTTCCTC	0.378																																						ENST00000325617.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1621-1623)agfs		calmegin							244	247	246					4																	141313402		2203	4300	6503	SO:0001589	frameshift_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141313402delT	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1622delA	4.37:g.141313402delT	ENSP00000326699:p.Lys541fs					CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs	p.K541fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			13	2062	-	all_hematologic(180;0.162)		541					B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	ENST00000325617.5	37	c.1622delA	CCDS3751.1																																																																																				0.378	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362		8	1293						8	1293	---	---	---	---	-	141313402	T	-	141313402	7	5	123	1	0	1	0	1	0	0	0	0	3533	1609	56	0	222	0	CLGN	4	141313402	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	28113981	141313402	49840874	119	38305											
FAM198B	51313	broad.mit.edu	37	chr4	159091487	159091489	+	Intron	DEL	GCT	GCT	-													ccaagcgcatggaaagacacGctgctgctgctgctgtccaa					rs370831945		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:159091487_159091489delGCT	ENST00000296530.8	-	2	1532				RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_In_Frame_Del_p.307_308AA>A	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							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						GGAAAGACACGCTGCTGCTGCTG	0.458																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(919-924)gcg>gc		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091487_159091489delGCT		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.910+128AGC>-	4.37:g.159091496_159091498delGCT						FAM198B_ENST00000296530.8_Intron|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000585682.1_Intron	p.AA307del	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1327_1329	-			307					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Del	DEL	ENST00000296530.8	37	c.921_923delAGC	CCDS3798.1																																																																																				0.458	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		8	415						8	415	---	---	---	---	-	159091489	GCT	-	159091487	6	5	123	0	1	1	0	1	0	0	0	0	5550	1087	38	0		0	FAM198B	4	159091487	Intron	DEL	GCT	TCGA-YB-A89D-01A-12D-A36O-08	17778085	159091487	32062789	120	38306											
ODZ3	55714	broad.mit.edu	37	chr4	183609359	183609359	+	Frame_Shift_Del	DEL	G	G	-													ggctcacacggcgtttgcatGggggggacgtgtcgctgtga							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:183609359delG	ENST00000511685.1	+	12	2199	c.2076delG	c.(2074-2076)atgfs	p.M692fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	692	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)										GCGTTTGCATGGGGGGGACGT	0.592																																						ENST00000511685.1																			0											c.(2074-2076)atfs		teneurin transmembrane protein 3							109	116	113					4																	183609359		1969	4158	6127	SO:0001589	frameshift_variant	55714							g.chr4:183609359delG	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.2076delG	4.37:g.183609359delG	ENSP00000424226:p.Met692fs					TENM3_ENST00000406950.2_Frame_Shift_Del_p.M692fs|TENM3_ENST00000502950.1_3'UTR	p.M692fs							12	2199	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Del	DEL	ENST00000511685.1	37	c.2076delG	CCDS47165.1																																																																																				0.592	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			11	1203						11	1203	---	---	---	---	-	183609359	G	-	183609359	7	5	123	1	0	1	0	1	0	0	0	0	10878	1348	47	0	2118	0	ODZ3	4	183609359	Frame_Shift_Del	DEL	G	TCGA-YB-A89D-01A-12D-A36O-08	24517872	183609359	7544917	121	38307											
SORBS2	8470	broad.mit.edu	37	chr4	186544620	186544622	+	In_Frame_Del	DEL	GGT	GGT	-													gcaggagctgatgaggtggcGgtggtggtggtggtggtgat					rs562339021		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr4:186544620_186544622delGGT	ENST00000284776.7	-	13	2458_2460	c.1949_1951delACC	c.(1948-1953)caccgc>cgc	p.H650del	SORBS2_ENST00000355634.5_In_Frame_Del_p.H750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.H554del|SORBS2_ENST00000431808.1_In_Frame_Del_p.H650del	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)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1948-1953)cgc>c		sorbin and SH3 domain containing 2																																				SO:0001651	inframe_deletion	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544620_186544622delGGT		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					SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000393528.3_Intron	p.HR650del			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2512_2514	-		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)	650			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	In_Frame_Del	DEL	ENST00000284776.7	37	c.1949_1951delACC	CCDS3845.1																																																																																				0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		10	413						10	413	---	---	---	---	-	186544622	GGT	-	186544620	7	5	123	1	0	1	0	1	0	0	0	0	14978	1116	39	0	1387	0	SORBS2	4	186544620	In_Frame_Del	DEL	GGT	TCGA-YB-A89D-01A-12D-A36O-08	2935261	186544620	4609656	122	38308											
CCDC127	133957	broad.mit.edu	37	chr5	205888	205888	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgagagataagggcttctcGgtaactagcagttctgtttt	11	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:205888G>A	ENST00000296824.3	-	3	439	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	103										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGGGCTTCTCGGTAACTAGCA	0.498																																						ENST00000296824.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(307-309)Cga>Tga		coiled-coil domain containing 127							101	101	101					5																	205888		2203	4300	6503	SO:0001587	stop_gained	133957							g.chr5:205888G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.307C>T	5.37:g.205888G>A	ENSP00000296824:p.Arg103*						p.R103*	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	439	-			103						Nonsense_Mutation	SNP	ENST00000296824.3	37	c.307C>T	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629715	0.46944	.	.	ENSG00000164366	ENST00000296824	.	.	.	5.77	4.91	0.64330	.	0.120792	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6082	14.1903	0.65635	0.0:0.0:0.8491:0.1509	.	.	.	.	X	103	.	ENSP00000296824:R103X	R	-	1	2	CCDC127	258888	1.000000	0.71417	0.944000	0.38274	0.475000	0.33008	2.365000	0.44196	1.457000	0.47850	-0.218000	0.12543	CGA		0.498	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	NM_145265		9	569	0	0	0	2.17888e-05	0	9	569					A	205888	G	A	205888	4	1	123	1	0	0	0	0	0	1	0	0	2770	1124	39	1	479	1	CCDC127	5	205888	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08		205888	180709372	123	38309											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-													ccgcgcctcctcctcgccccCctcctcctcctcgccctccg					rs561786759|rs369060686|rs200684951		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		7	179						7	179	---	---	---	---	-	1879671	CCT	-	1879669	7	5	123	1	0	1	0	1	0	0	0	0	7876	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-YB-A89D-01A-12D-A36O-08	1673781	1879669	179035591	124	38310											
IRX2	153572	broad.mit.edu	37	chr5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcttgttctccttcttgaggCgccggcgcgcgttggcgaac	13	13	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:2749639C>T	ENST00000382611.6	-	2	760	c.512G>A	c.(511-513)cGc>cAc	p.R171H	C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	171					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592																																						ENST00000382611.6																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(511-513)cGc>cAc		iroquois homeobox 2							136	128	131					5																	2749639		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749639C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.512G>A	5.37:g.2749639C>T	ENSP00000372056:p.Arg171His					IRX2_ENST00000302057.5_Missense_Mutation_p.R171H|IRX2_ENST00000502957.1_5'UTR	p.R171H	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	760	-			171					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.512G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448586	0.96205	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.98617	-5.03;-5.03;-5.03	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98132	1.0431	10	0.87932	D	0	-23.159	17.9697	0.89110	0.0:1.0:0.0:0.0	.	171	Q9BZI1	IRX2_HUMAN	H	171;171;78	ENSP00000372056:R171H;ENSP00000307006:R171H;ENSP00000426151:R78H	ENSP00000307006:R171H	R	-	2	0	IRX2	2802639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.239000	0.73571	0.655000	0.94253	CGC		0.592	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			9	497	0	0	0	2.17888e-05	0	9	497					T	2749639	C	T	2749639	3	4	123	1	0	0	0	0	1	0	0	0	7874	768	27	1	915	1	IRX2	5	2749639	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	869970	2749639	178165621	125	38311											
DNAH5	1767	broad.mit.edu	37	chr5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-													gtagttaaacttggagagtcTttttttccagtgctccagct							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	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)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145	157	153					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	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.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	1068						8	1068	---	---	---	---	-	13919383	T	-	13919383	7	5	123	1	0	1	0	1	0	0	0	0	4620	1617	56	0	13289	0	DNAH5	5	13919383	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	11169744	13919383	166995877	126	38312											
ZFR	51663	broad.mit.edu	37	chr5	32407015	32407017	+	In_Frame_Del	DEL	GCA	GCA	-													tccctgtccaggcagctgttGcagcagcagcagcagctgct							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:32407015_32407017delGCA	ENST00000265069.8	-	6	996_998	c.894_896delTGC	c.(892-897)gctgca>gca	p.298_299AA>A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	298	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)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGCAgctgttgcagcagcagcag	0.478																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(892-897)gca>gc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32407015_32407017delGCA	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.894_896delTGC	5.37:g.32407024_32407026delGCA	ENSP00000265069:p.Ala299del						p.AA298del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	6	996_998	-			298			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.894_896delTGC	CCDS34139.1																																																																																				0.478	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	286						7	286	---	---	---	---	-	32407017	GCA	-	32407015	7	5	123	1	0	1	0	1	0	0	0	0	17712	1319	46	0	2388	0	ZFR	5	32407015	In_Frame_Del	DEL	GCA	TCGA-YB-A89D-01A-12D-A36O-08	18487632	32407015	148508245	127	38313											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-													caccaagaacagcaacaaaaAgcagcagcagcagcagccgg					rs576181814		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|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 migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(67-72)ttt>t		fibroblast growth factor 10																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.CF23del	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	182_184	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		8	249						8	249	---	---	---	---	-	44388717	AGC	-	44388715	7	5	123	1	0	1	0	1	0	0	0	0	5864	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-YB-A89D-01A-12D-A36O-08	11981700	44388715	136526545	128	38314											
TAF9	6880	broad.mit.edu	37	chr5	68660786	68660788	+	In_Frame_Del	DEL	TCA	TCA	-													tagattacagattatcatagTcatcatcatcatcatcgtca					rs138635374		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:68660786_68660788delTCA	ENST00000328663.4	-	3	1243_1245	c.777_779delTGA	c.(775-780)gatgac>gac	p.259_260DD>D	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.259_260DD>D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.259_260DD>D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	259	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		attatcatagtcatcatcatcat	0.33																																						ENST00000328663.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(775-780)gac>ga		TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa			,,,	1,1,4264		0,0,1,0,1,2131					,,,	3.4	1		dbSNP_134	103	5,0,8249		0,0,5,0,0,4122	no	intron,codingComplex,codingComplex,intron	TAF9	NM_016283.4,NM_003187.4,NM_001015892.1,NM_001015891.1	,,,	0,0,6,0,1,6253	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.0469,0.0559	,,,	,,,		6,1,12513				SO:0001651	inframe_deletion	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68660786_68660788delTCA	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.777_779delTGA	5.37:g.68660795_68660797delTCA	ENSP00000370193:p.Asp260del					TAF9_ENST00000512561.1_Intron|TAF9_ENST00000506736.1_In_Frame_Del_p.DD259del|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_In_Frame_Del_p.DD259del	p.DD259del	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	3	1243_1245	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	63					D3DWA3|Q5U0D1|Q9BTS1	In_Frame_Del	DEL	ENST00000328663.4	37	c.777_779delTGA	CCDS4002.1																																																																																				0.33	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		8	804						8	804	---	---	---	---	-	68660788	TCA	-	68660786	7	5	123	1	0	1	0	1	0	0	0	0	15587	1667	58	0	429	0	TAF9	5	68660786	In_Frame_Del	DEL	TCA	TCGA-YB-A89D-01A-12D-A36O-08	24272071	68660786	112254474	129	38315											
MCCC2	64087	broad.mit.edu	37	chr5	70931068	70931068	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttaagaggagctttgatgtcCgagaggtatgtgaaagtgga	15	3	0	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:70931068C>A	ENST00000340941.6	+	10	1123	c.994C>A	c.(994-996)Cga>Aga	p.R332R	MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.R294R|MCCC2_ENST00000509358.2_Silent_p.R332R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	332	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)	CTTTGATGTCCGAGAGGTATG	0.393																																						ENST00000340941.6																			0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30	GRCh37	CM053319	MCCC2	M		c.(994-996)Cga>Aga		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						132	132	132					5																	70931068		2203	4300	6503	SO:0001819	synonymous_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70931068C>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.994C>A	5.37:g.70931068C>A						MCCC2_ENST00000509358.2_Silent_p.R332R|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Silent_p.R294R	p.R332R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	10	1123	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	332			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	37	c.994C>A	CCDS34184.1																																																																																				0.393	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			7	397	1	0	0.000157383	0.000157383	0.00973904	7	397					A	70931068	C	A	70931068	2	1	123	1	0	0	0	0	0	0	0	1	9416	644	23	3		3	MCCC2	5	70931068	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2270282	70931068	109984192	130	38316											
COL4A3BP	10087	broad.mit.edu	37	chr5	74754979	74754979	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actatcatttacactaatatCaaatcgacattcatcaaaat	1	9	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:74754979C>A	ENST00000405807.4	-	3	680	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.D215Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACACTAATATCAAATCGACAT	0.378																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(643-645)Gat>Tat		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							168	142	150					5																	74754979		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74754979C>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.259G>T	5.37:g.74754979C>A	ENSP00000383996:p.Asp87Tyr					COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.D87Y	p.D215Y	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	4	936	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	87					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.643G>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742024	0.89573	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.12465	2.68;2.68;2.68	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.62088	1.915	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.09422	-1.0675	10	0.87932	D	0	-1.6075	18.6597	0.91468	0.0:1.0:0.0:0.0	.	87;215;87	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Y	87;215;87	ENSP00000383996:D87Y;ENSP00000369862:D215Y;ENSP00000261415:D87Y	ENSP00000261415:D87Y	D	-	1	0	COL4A3BP	74790735	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.682000	0.84083	2.493000	0.84123	0.563000	0.77884	GAT		0.378	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		8	350	1	0	0.000157383	0.000157383	0.00973904	8	350					A	74754979	C	A	74754979	3	1	123	1	0	0	0	0	1	0	0	0	3701	826	29	3	1675	3	COL4A3BP	5	74754979	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3823911	74754979	106160281	131	38317											
PAM	5066	broad.mit.edu	37	chr5	102284122	102284122	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgtaccttatgatgtctgttGacactgttatcccagcagga	9	9	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr5:102284122G>T	ENST00000438793.3	+	8	1086	c.616G>T	c.(616-618)Gac>Tac	p.D206Y	PAM_ENST00000304400.7_Missense_Mutation_p.D206Y|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.D109Y|PAM_ENST00000455264.2_Missense_Mutation_p.D206Y|PAM_ENST00000348126.2_Missense_Mutation_p.D206Y|PAM_ENST00000346918.2_Missense_Mutation_p.D206Y	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	206	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATGTCTGTTGACACTGTTAT	0.313																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(616-618)Gac>Tac		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						125	125	125					5																	102284122		2203	4298	6501	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102284122G>T	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.616G>T	5.37:g.102284122G>T	ENSP00000396493:p.Asp206Tyr					PAM_ENST00000455264.2_Missense_Mutation_p.D206Y|PAM_ENST00000348126.2_Missense_Mutation_p.D206Y|PAM_ENST00000346918.2_Missense_Mutation_p.D206Y|PAM_ENST00000304400.7_Missense_Mutation_p.D206Y|PAM_ENST00000274392.9_Missense_Mutation_p.D109Y|PAM_ENST00000379787.4_5'UTR	p.D206Y	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	8	1086	+		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)	206			Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.616G>T	CCDS54885.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808418	0.31961	.	.	ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.75	4.87	0.63330	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.137618	0.64402	D	0.000004	T	0.78438	0.4283	L	0.35487	1.065	0.80722	D	1	D;D;D;D;D;B	0.76494	0.997;0.998;0.997;0.999;0.999;0.288	D;D;D;D;D;B	0.70227	0.92;0.952;0.95;0.968;0.949;0.125	T	0.79926	-0.1597	10	0.62326	D	0.03	.	12.2954	0.54842	0.1427:0.0:0.8573:0.0	.	109;206;206;206;206;206	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2	.;AMD_HUMAN;.;.;.;.	Y	206;206;206;206;109;206	ENSP00000396493:D206Y;ENSP00000282992:D206Y;ENSP00000314638:D206Y;ENSP00000306100:D206Y;ENSP00000274392:D109Y;ENSP00000403461:D206Y	ENSP00000274392:D109Y	D	+	1	0	PAM	102312021	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.600000	0.54052	1.406000	0.46857	0.563000	0.77884	GAC		0.313	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		12	922	1	0	3.45872e-05	3.45872e-05	0.00404903	12	922					T	102284122	G	T	102284122	3	4	123	1	0	0	0	0	1	0	0	0	11454	1290	45	3	646	3	PAM	5	102284122	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	27529143	102284122	78631138	132	38318											
DCP2	167227	broad.mit.edu	37	chr5	112321534	112321534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gtgttttgtttttgacagccGatttattttgcatattccca	7	7	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:112321534G>T	ENST00000389063.2	+	2	254	c.56G>T	c.(55-57)cGa>cTa	p.R19L	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.R19L	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	19					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|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)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGACAGCCGATTTATTTTG	0.358																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(55-57)cGa>cTa		decapping mRNA 2							163	152	156					5																	112321534		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112321534G>T	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.56G>T	5.37:g.112321534G>T	ENSP00000373715:p.Arg19Leu					DCP2_ENST00000515408.1_Missense_Mutation_p.R19L|DCP2_ENST00000543319.1_Intron	p.R19L	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	2	254	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	19					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.56G>T	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317160	0.95682	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.71341	-0.56;-0.56	5.48	5.48	0.80851	mRNA decapping protein 2, Box A (1);	0.058834	0.64402	N	0.000001	D	0.88901	0.6563	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91169	0.4967	10	0.87932	D	0	.	19.7147	0.96110	0.0:0.0:1.0:0.0	.	19	Q8IU60	DCP2_HUMAN	L	19	ENSP00000425770:R19L;ENSP00000373715:R19L	ENSP00000373715:R19L	R	+	2	0	DCP2	112349433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.373000	0.97168	2.732000	0.93576	0.591000	0.81541	CGA		0.358	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		13	499	1	0	3.45872e-05	3.45872e-05	0.0032145	13	499					T	112321534	G	T	112321534	3	4	123	1	0	0	0	0	1	0	0	0	4311	1058	37	3	62	3	DCP2	5	112321534	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	10037412	112321534	68593726	133	38319											
CEP120	153241	broad.mit.edu	37	chr5	122722255	122722255	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgaggcatagttgcaaaatCaaatgcacagtaagactggg	11	6	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:122722255C>A	ENST00000306467.5	-	10	1841	c.1537G>T	c.(1537-1539)Gat>Tat	p.D513Y	CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	513					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTTGCAAAATCAAATGCACAG	0.348																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1537-1539)Gat>Tat		centrosomal protein 120kDa							62	60	61					5																	122722255		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122722255C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1537G>T	5.37:g.122722255C>A	ENSP00000303058:p.Asp513Tyr					CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y	p.D513Y			Q8N960	CE120_HUMAN			10	1841	-			513					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1537G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530289	0.85706	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.51574	2.03;2.03;2.03;0.7	5.97	5.97	0.96955	.	0.102761	0.64402	D	0.000005	T	0.65595	0.2706	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.63545	-0.6613	10	0.49607	T	0.09	-25.1905	20.0428	0.97598	0.0:1.0:0.0:0.0	.	513	Q8N960	CE120_HUMAN	Y	513;513;487;487	ENSP00000303058:D513Y;ENSP00000327504:D513Y;ENSP00000307419:D487Y;ENSP00000421620:D487Y	ENSP00000303058:D513Y	D	-	1	0	CEP120	122750154	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.756000	0.62205	2.833000	0.97629	0.585000	0.79938	GAT		0.348	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		11	660	1	0	5.50884e-06	0.00010058	0.000617672	11	660					A	122722255	C	A	122722255	3	1	123	1	0	0	0	0	1	0	0	0	3255	826	29	3	1467	3	CEP120	5	122722255	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	10400721	122722255	58193005	134	38320											
PCDHA9	9752	broad.mit.edu	37	chr5	140228096	140228096	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgaaatgttatactcaagtCgaggagatccagagggtcag	12	6	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:140228096C>T	ENST00000532602.1	+	1	1049	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.R6*|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	6					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)			ATACTCAAGTCGAGGAGATCC	0.488																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(16-18)Cga>Tga									84	87	86					5																	140228096		2197	4269	6466	SO:0001587	stop_gained	0							g.chr5:140228096C>T	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.16C>T	5.37:g.140228096C>T	ENSP00000436042:p.Arg6*					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.R6*	p.R6*	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	740	+								O15053|Q2M3S5	Nonsense_Mutation	SNP	ENST00000532602.1	37	c.16C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	39	7.294141	0.98192	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.73	-0.921	0.10472	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4352	0.16478	0.4129:0.2254:0.3617:0.0	.	.	.	.	X	6	.	ENSP00000367362:R6X	R	+	1	2	PCDHA9	140208280	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.372000	0.07504	-0.010000	0.14271	0.591000	0.81541	CGA		0.488	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		87	670	0	0	0	0.000147903	0	87	670					T	140228096	C	T	140228096	4	4	123	1	0	0	0	0	0	1	0	0	11573	876	31	1	18	1	PCDHA9	5	140228096	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	17505841	140228096	40687164	135	38321											
SH3TC2	79628	broad.mit.edu	37	chr5	148417924	148417924	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	ccacttgtcctgaacttgtcGactttccaatgaaccactga	6	13	0	3	rs151205080		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:148417924G>T	ENST00000515425.1	-	8	1036	c.935C>A	c.(934-936)tCg>tAg	p.S312*	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	312	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			TGAACTTGTCGACTTTCCAAT	0.468																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(934-936)tCg>tAg		SH3 domain and tetratricopeptide repeats 2							197	187	190					5																	148417924		2203	4300	6503	SO:0001587	stop_gained	79628						binding	g.chr5:148417924G>T	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.935C>A	5.37:g.148417924G>T	ENSP00000423660:p.Ser312*					SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*|SH3TC2_ENST00000538184.1_5'UTR	p.S312*	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1036	-			312			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	ENST00000515425.1	37	c.935C>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768002	0.90020	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	.	.	.	4.88	3.99	0.46301	.	0.251785	0.30639	N	0.009183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0496	0.53500	0.0875:0.0:0.9125:0.0	.	.	.	.	X	312;305;197	.	ENSP00000377886:S197X	S	-	2	0	SH3TC2	148398117	0.999000	0.42202	0.942000	0.38095	0.466000	0.32739	3.224000	0.51238	2.424000	0.82194	0.561000	0.74099	TCG		0.468	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		9	746	1	0	3.86212e-05	3.86212e-05	0.00332401	9	746					T	148417924	G	T	148417924	4	4	123	1	0	0	0	0	0	1	0	0	14312	1059	37	3	2971	3	SH3TC2	5	148417924	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	8189828	148417924	32497336	136	38322											
TIGD6	81789	broad.mit.edu	37	chr5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-													atgttggccaagtttagtgcTtttttccgaatgacagaacc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					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)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169	167	168					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	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.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		8	1574						8	1574	---	---	---	---	-	149375600	T	-	149375600	7	5	123	1	0	1	0	1	0	0	0	0	15952	1606	56	0	1257	0	TIGD6	5	149375600	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	957676	149375600	31539660	137	38323											
ANXA6	309	broad.mit.edu	37	chr5	150488089	150488089	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctccacgtcatagttggtCatcttgatgaactcctggaa	9	10	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:150488089C>A	ENST00000354546.5	-	23	1934	c.1707G>T	c.(1705-1707)atG>atT	p.M569I	ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I|ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	569					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)			CATAGTTGGTCATCTTGATGA	0.577																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1705-1707)atG>atT		annexin A6							182	181	181					5																	150488089		2008	4179	6187	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150488089C>A	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.1707G>T	5.37:g.150488089C>A	ENSP00000346550:p.Met569Ile					ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I|ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I	p.M569I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	1934	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	569					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1707G>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	3.983	-0.006052	0.07773	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	5.57	4.69	0.59074	Annexin repeat, conserved site (1);	0.431335	0.27668	N	0.018342	T	0.02342	0.0072	N	0.16862	0.45	0.28661	N	0.906151	B;B;B	0.29571	0.08;0.249;0.006	B;B;B	0.32090	0.14;0.051;0.013	T	0.36504	-0.9745	10	0.02654	T	1	.	8.7658	0.34702	0.1487:0.7736:0.0:0.0777	.	356;563;569	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	569;537;226;563;356;443	ENSP00000346550:M569I;ENSP00000430517:M537I;ENSP00000366980:M226I;ENSP00000348889:M563I;ENSP00000430420:M356I	ENSP00000346550:M569I	M	-	3	0	ANXA6	150468282	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.922000	0.56462	1.334000	0.45468	0.655000	0.94253	ATG		0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		12	924	1	0	0.000151284	0.000151284	0.00973904	12	924					A	150488089	C	A	150488089	3	1	123	1	0	0	0	0	1	0	0	0	722	826	29	3	330	3	ANXA6	5	150488089	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1112489	150488089	30427171	138	38324											
NPM1	4869	broad.mit.edu	37	chr5	170827880	170827880	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agccaaaaatgcacaaaagtCaaatcagaatggaaaagact	7	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:170827880C>A	ENST00000296930.5	+	8	921	c.620C>A	c.(619-621)tCa>tAa	p.S207*	NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*|NPM1_ENST00000351986.6_Intron	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	207					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)			GCACAAAAGTCAAATCAGAAT	0.388			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	ENST00000296930.5				Dom	yes		5	5q35	4869	"T, F "	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"			L	"ALK, RARA, MLF1"		"NHL, APL, AML"	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(619-621)tCa>tAa		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							75	74	74					5																	170827880		2203	4300	6503	SO:0001587	stop_gained	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170827880C>A	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.620C>A	5.37:g.170827880C>A	ENSP00000296930:p.Ser207*					NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*|NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*	p.S207*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	921	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	207					A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Nonsense_Mutation	SNP	ENST00000296930.5	37	c.620C>A	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559008	0.97663	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000393820	.	.	.	4.39	4.39	0.52855	.	0.540943	0.18436	U	0.141282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0557	0.64767	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000296930:S207X	S	+	2	0	NPM1	170760485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.156000	0.58138	2.150000	0.67090	0.561000	0.74099	TCA		0.388	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	NM_002520		9	601	1	0	7.93312e-07	1.49906e-05	0.000106544	9	601					A	170827880	C	A	170827880	4	1	123	1	0	0	0	0	0	1	0	0	10629	838	29	3	650	3	NPM1	5	170827880	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	20339791	170827880	10087380	139	38325											
CLK4	57396	broad.mit.edu	37	chr5	178039804	178039804	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtctttaacttaccattttaGaattatatttgactacatag	4	6	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178039804G>T	ENST00000316308.4	-	8	1082	c.914C>A	c.(913-915)tCt>tAt	p.S305Y		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	305	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)		TACCATTTTAGAATTATATTT	0.289																																						ENST00000316308.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(913-915)tCt>tAt		CDC-like kinase 4							52	60	57					5																	178039804		2193	4285	6478	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178039804G>T	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.914C>A	5.37:g.178039804G>T	ENSP00000316948:p.Ser305Tyr						p.S305Y	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	8	1082	-	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)	305			Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.914C>A	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125826	0.37533	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.69926	-0.44	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);	0.354081	0.33691	N	0.004656	T	0.59211	0.2177	N	0.17872	0.535	0.80722	D	1	P;P;P	0.51791	0.948;0.469;0.469	P;B;B	0.51229	0.663;0.299;0.299	T	0.56105	-0.8034	10	0.27082	T	0.32	.	12.1521	0.54055	0.0:0.0:0.829:0.171	.	305;305;305	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	Y	305	ENSP00000316948:S305Y	ENSP00000316948:S305Y	S	-	2	0	CLK4	177972410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.328000	0.59253	2.637000	0.89404	0.650000	0.86243	TCT		0.289	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2			9	626	1	0	0.000151284	0.000151284	0.00973904	9	626					T	178039804	G	T	178039804	3	4	123	1	0	0	0	0	1	0	0	0	3548	942	33	3	555	3	CLK4	5	178039804	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7211924	178039804	2875456	140	38326											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552049	178552049	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcggctctcgggccgggcGtcattgcagtgcttggcgtg	18	12	2	0	rs370397254		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178552049G>A	ENST00000251582.7	-	19	2984	c.2883C>T	c.(2881-2883)gaC>gaT	p.D961D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	961	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCCGGGCGTCATTGCAGT	0.701																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2881-2883)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2		G		0,4406		0,0,2203	74	78	76		2883	2	0.4	5		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS2	NM_014244.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		961/1212	178552049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552049G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2883C>T	5.37:g.178552049G>A							p.D961D	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2984	-	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)	961			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2883C>T	CCDS4444.1																																																																																				0.701	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		65	616	0	0	0	0.000147903	0	65	616					A	178552049	G	A	178552049	2	1	123	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178552049	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	512245	178552049	2363211	141	38327											
EXOC2	55770	broad.mit.edu	37	chr6	549213	549213	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tccctggaagttgtgcttttCaaaatgttctgcgatattta	8	7	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:549213C>A	ENST00000230449.4	-	22	2335	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	734					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGCTTTTCAAAATGTTCT	0.388																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2200-2202)Gaa>Taa		exocyst complex component 2							207	197	201					6																	549213		2203	4300	6503	SO:0001587	stop_gained	55770				exocytosis|protein transport			g.chr6:549213C>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2200G>T	6.37:g.549213C>A	ENSP00000230449:p.Glu734*					EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	p.E734*	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	22	2335	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	734					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Nonsense_Mutation	SNP	ENST00000230449.4	37	c.2200G>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	41	9.092450	0.99062	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	5.41	5.41	0.78517	.	0.047763	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-11.731	19.1915	0.93669	0.0:1.0:0.0:0.0	.	.	.	.	X	734;329	.	ENSP00000230449:E734X	E	-	1	0	EXOC2	494213	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.004000	0.76317	2.515000	0.84797	0.655000	0.94253	GAA		0.388	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		12	671	1	0	6.40141e-05	6.40141e-05	0.00496729	12	671					A	549213	C	A	549213	4	1	123	1	0	0	0	0	0	1	0	0	5320	835	29	3	602	3	EXOC2	6	549213	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		549213	170565854	142	38328											
LY86	9450	broad.mit.edu	37	chr6	6625213	6625213	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtgttccaagcaattaaaatCaaatatcaacattagatttg	5	6	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:6625213C>A	ENST00000379953.2	+	3	543	c.191C>A	c.(190-192)tCa>tAa	p.S64*	LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000606044.1_RNA|LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000607278.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	64					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)					CAATTAAAATCAAATATCAAC	0.313																																						ENST00000379953.2																			0				large_intestine(2)|lung(6)	8						c.(190-192)tCa>tAa		lymphocyte antigen 86							66	62	64					6																	6625213		2189	4293	6482	SO:0001587	stop_gained	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6625213C>A	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.191C>A	6.37:g.6625213C>A	ENSP00000369286:p.Ser64*					LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*	p.S64*			O95711	LY86_HUMAN			3	543	+	Ovarian(93;0.0377)		64					Q9UQC4	Nonsense_Mutation	SNP	ENST00000379953.2	37	c.191C>A	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432933	0.62844	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	.	.	.	5.26	3.22	0.36961	.	1.944890	0.02311	N	0.072065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	4.3632	12.8308	0.57744	0.3071:0.6929:0.0:0.0	.	.	.	.	X	64	.	ENSP00000230568:S64X	S	+	2	0	LY86	6570212	0.001000	0.12720	0.017000	0.16124	0.635000	0.38103	0.857000	0.27831	1.177000	0.42855	0.655000	0.94253	TCA		0.313	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2			7	194	1	0	0.000157383	0.000157383	0.00973904	7	194					A	6625213	C	A	6625213	4	1	123	1	0	0	0	0	0	1	0	0	9139	838	29	3	197	3	LY86	6	6625213	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6076000	6625213	164489854	143	38329											
RREB1	6239	broad.mit.edu	37	chr6	7182158	7182158	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgtcccaatgacgtcaagttCgcccgctggcttggaaggtt	12	11	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:7182158C>A	ENST00000349384.6	+	4	328	c.14C>A	c.(13-15)tCg>tAg	p.S5*	RP11-405O10.2_ENST00000451355.2_RNA|RREB1_ENST00000334984.6_Nonsense_Mutation_p.S5*|RREB1_ENST00000379938.2_Nonsense_Mutation_p.S5*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.S5*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	5					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ACGTCAAGTTCGCCCGCTGGC	0.498																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(13-15)tCg>tAg		ras responsive element binding protein 1							169	179	176					6																	7182158		2203	4300	6503	SO:0001587	stop_gained	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7182158C>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.14C>A	6.37:g.7182158C>A	ENSP00000305560:p.Ser5*					RREB1_ENST00000349384.6_Nonsense_Mutation_p.S5*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.S5*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.S5*	p.S5*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			4	551	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	5					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.14C>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830457	0.71258	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	6.03	5.16	0.70880	.	0.622831	0.14213	N	0.333932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.309	10.7325	0.46104	0.0:0.8551:0.0:0.1449	.	.	.	.	X	5	.	ENSP00000335574:S5X	S	+	2	0	RREB1	7127157	0.054000	0.20591	0.572000	0.28498	0.334000	0.28698	0.706000	0.25690	1.563000	0.49615	-0.140000	0.14226	TCG		0.498	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			13	987	1	0	0.00010058	0.00010058	0.0072096	13	987					A	7182158	C	A	7182158	4	1	123	1	0	0	0	0	0	1	0	0	13729	893	31	3	16	3	RREB1	6	7182158	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	556945	7182158	163932909	144	38330											
RIOK1	83732	broad.mit.edu	37	chr6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-													atgaggaggaggagggttatGacgatgatgatgatgactgg					rs2274212|rs368069269	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2																			1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)del		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del						p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		10	356						10	356	---	---	---	---	-	7393452	GAC	-	7393450	7	5	123	1	0	1	0	1	0	0	0	0	13427	1290	45	0	196	0	RIOK1	6	7393450	In_Frame_Del	DEL	GAC	TCGA-YB-A89D-01A-12D-A36O-08	211292	7393450	163721617	145	38331											
ZNF311	282890	broad.mit.edu	37	chr6	28963821	28963821	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	actgtgggtttttttatgtcGgcaaagagctgatctactgt	11	6	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:28963821G>T	ENST00000377179.3	-	7	1470	c.958C>A	c.(958-960)Cga>Aga	p.R320R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	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)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTTTTATGTCGGCAAAGAGCT	0.493																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(958-960)Cga>Aga		zinc finger protein 311							74	66	69					6																	28963821		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963821G>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.958C>A	6.37:g.28963821G>T						ZNF311_ENST00000483450.1_5'UTR	p.R320R	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1470	-			320					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.958C>A	CCDS34357.1																																																																																				0.493	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		11	413	1	0	0.000151284	0.000151284	0.00973904	11	413					T	28963821	G	T	28963821	2	4	123	1	0	0	0	0	0	0	0	1	17887	1124	39	3		3	ZNF311	6	28963821	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	21570371	28963821	142151246	146	38332											
DNAH8	1769	broad.mit.edu	37	chr6	38705701	38705701	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccagcaactcagaaactgttCatcagctggaggaagtgctg	11	10	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:38705701C>A	ENST00000359357.3	+	5	672	c.418C>A	c.(418-420)Cat>Aat	p.H140N	DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	140					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						AGAAACTGTTCATCAGCTGGA	0.408																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(418-420)Cat>Aat		dynein, axonemal, heavy chain 8							136	134	135					6																	38705701		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38705701C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.418C>A	6.37:g.38705701C>A	ENSP00000352312:p.His140Asn					DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N	p.H140N							5	672	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.418C>A		.	.	.	.	.	.	.	.	.	.	C	5.844	0.339911	0.11069	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.52526	0.66;0.66;0.66	5.62	4.76	0.60689	Dynein heavy chain, domain-1 (1);	0.431265	0.24467	N	0.038261	T	0.12092	0.0294	N	0.20685	0.6	0.25144	N	0.990471	B	0.09022	0.002	B	0.22601	0.04	T	0.18713	-1.0328	10	0.17369	T	0.5	.	6.7968	0.23729	0.143:0.706:0.0:0.151	.	140	Q96JB1	DYH8_HUMAN	N	345;345;140;140	ENSP00000333363:H345N;ENSP00000352312:H140N;ENSP00000402294:H140N	ENSP00000333363:H345N	H	+	1	0	DNAH8	38813679	1.000000	0.71417	0.972000	0.41901	0.390000	0.30446	2.542000	0.45744	1.370000	0.46153	-0.142000	0.14014	CAT		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		9	542	1	0	3.07112e-06	6.40141e-05	0.00037162	9	542					A	38705701	C	A	38705701	3	1	123	1	0	0	0	0	1	0	0	0	4623	826	29	3	428	3	DNAH8	6	38705701	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9741880	38705701	132409366	147	38333											
ABCC10	89845	broad.mit.edu	37	chr6	43415482	43415482	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggacgtggtgttggcgtacCggccagggctgccgaatgcc	17	11	0	0	rs139000750		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43415482C>A	ENST00000372530.4	+	18	3981	c.3766C>A	c.(3766-3768)Cgg>Agg	p.R1256R	ABCC10_ENST00000244533.3_Silent_p.R1228R	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1256	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTTGGCGTACCGGCCAGGGCT	0.667																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3682-3684)Cgg>Agg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							142	147	146					6																	43415482		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415482C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3766C>A	6.37:g.43415482C>A						ABCC10_ENST00000372530.4_Silent_p.R1256R	p.R1228R	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4041	+	all_lung(25;0.00536)		1256					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3682C>A	CCDS56430.1																																																																																				0.667	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	837	1	0	0.000157383	0.000157383	0.00973904	8	837					A	43415482	C	A	43415482	2	1	123	1	0	0	0	0	0	0	0	1	50	643	23	3		3	ABCC10	6	43415482	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4709781	43415482	127699585	148	38334											
DLK2	65989	broad.mit.edu	37	chr6	43418947	43418947	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccacaaagcccaccaagcagCggcacgtgaagttgagagca	11	13	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43418947C>T	ENST00000357338.3	-	6	1182	c.482G>A	c.(481-483)cGc>cAc	p.R161H	DLK2_ENST00000372485.1_Missense_Mutation_p.R155H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	161	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAAGCAGCGGCACGTGAA	0.592																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(481-483)cGc>cAc		delta-like 2 homolog (Drosophila)							79	54	62					6																	43418947		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418947C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.482G>A	6.37:g.43418947C>T	ENSP00000349893:p.Arg161His					DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000372485.1_Missense_Mutation_p.R155H	p.R161H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1182	-	all_lung(25;0.00536)		161			EGF-like 4.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.482G>A	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542004|3.542004	0.65198|0.65198	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87809	.|-2.3;-2.3;-2.3;-2.3	4.51|4.51	4.51|4.51	0.55191|0.55191	.|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	T|T	0.67297|0.67297	0.2878|0.2878	N|N	0.21373|0.21373	0.66|0.66	0.46167|0.46167	D|D	0.998909|0.998909	.|P	.|0.51240	.|0.943	.|B	.|0.40410	.|0.328	T|T	0.68655|0.68655	-0.5351|-0.5351	5|10	.|0.19147	.|T	.|0.46	.|.	12.2573|12.2573	0.54631|0.54631	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	.|161	.|Q6UY11	.|DLK2_HUMAN	T|H	67|155;161;161;155	.|ENSP00000361563:R155H;ENSP00000361566:R161H;ENSP00000349893:R161H;ENSP00000398906:R155H	.|ENSP00000349893:R161H	A|R	-|-	1|2	0|0	DLK2|DLK2	43526925|43526925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	2.486000|2.486000	0.45259|0.45259	2.507000|2.507000	0.84556|0.84556	0.455000|0.455000	0.32223|0.32223	GCT|CGC		0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		6	169	0	0	0	0.000157383	0	6	169					T	43418947	C	T	43418947	3	4	123	1	0	0	0	0	1	0	0	0	4581	768	27	1	673	1	DLK2	6	43418947	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3465	43418947	127696120	149	38335											
MEP1A	4224	broad.mit.edu	37	chr6	46797278	46797278	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atgacagcacaggcaatgttCgcaagttggtgaaggtgcag	14	7	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:46797278C>A	ENST00000230588.4	+	10	1123	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	372	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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)			AGGCAATGTTCGCAAGTTGGT	0.488																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1114-1116)Cgc>Agc		meprin A, alpha (PABA peptide hydrolase)							137	145	143					6																	46797278		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46797278C>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1114C>A	6.37:g.46797278C>A	ENSP00000230588:p.Arg372Ser						p.R372S	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		10	1123	+			372			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1114C>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330826	0.41297	.	.	ENSG00000112818	ENST00000230588	T	0.02067	4.47	5.77	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.342421	0.34435	N	0.003979	T	0.03783	0.0107	M	0.74881	2.28	0.43522	D	0.995798	D;D	0.58970	0.984;0.984	P;P	0.61070	0.858;0.883	T	0.53753	-0.8394	10	0.19147	T	0.46	-12.7042	10.0322	0.42107	0.1364:0.7941:0.0:0.0695	.	400;372	B7ZL91;Q16819	.;MEP1A_HUMAN	S	372	ENSP00000230588:R372S	ENSP00000230588:R372S	R	+	1	0	MEP1A	46905237	0.011000	0.17503	0.879000	0.34478	0.799000	0.45148	0.779000	0.26746	1.410000	0.46936	0.650000	0.86243	CGC		0.488	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		13	638	1	0	2.31682e-05	2.31682e-05	0.00220351	13	638					A	46797278	C	A	46797278	3	1	123	1	0	0	0	0	1	0	0	0	9516	884	31	3	1152	3	MEP1A	6	46797278	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3378331	46797278	124317789	150	38336											
DST	667	broad.mit.edu	37	chr6	56504494	56504494	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtttaaaaaaaaaaacttacCaagagttttgcatactgact	5	6	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:56504494C>A	ENST00000361203.3	-	16	2071	c.2064G>T	c.(2062-2064)ttG>ttT	p.L688F	DST_ENST00000518935.1_Splice_Site_p.L362F|DST_ENST00000446842.2_Splice_Site_p.L362F|DST_ENST00000370754.5_Splice_Site_p.L866F|DST_ENST00000421834.2_Splice_Site_p.L688F|DST_ENST00000370769.4_Splice_Site_p.L688F|DST_ENST00000370765.6_Splice_Site_p.L362F|DST_ENST00000244364.6_Splice_Site_p.L362F|DST_ENST00000370788.2_Splice_Site_p.L688F|DST_ENST00000312431.6_Splice_Site_p.L688F			Q03001	DYST_HUMAN	dystonin	688					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)			AAAAACTTACCAAGAGTTTTG	0.313																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.e19+1		dystonin							114	130	124					6																	56504494		2200	4297	6497	SO:0001630	splice_region_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504494C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2064+1G>T	6.37:g.56504494C>A						DST_ENST00000370788.2_Splice_Site_p.L688_splice|DST_ENST00000370769.4_Splice_Site_p.L688_splice|DST_ENST00000244364.6_Splice_Site_p.L362_splice|DST_ENST00000370765.6_Splice_Site_p.L362_splice|DST_ENST00000518935.1_Splice_Site_p.L362_splice|DST_ENST00000421834.2_Splice_Site_p.L688_splice|DST_ENST00000361203.3_Splice_Site_p.L688_splice|DST_ENST00000312431.6_Splice_Site_p.L688_splice|DST_ENST00000446842.2_Splice_Site_p.L362_splice	p.L866_splice			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		19	2597	-	Lung NSC(77;0.103)		688					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Splice_Site	SNP	ENST00000361203.3	37	c.2598_splice		.	.	.	.	.	.	.	.	.	.	C	20.5	3.999634	0.74818	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;D;T;T;D;D;T;D	0.93426	-0.22;-0.22;-0.22;-0.22;-0.22;-3.22;-0.22;-0.22;-3.22;-3.22;-0.22;-3.22	5.56	5.56	0.83823	.	0.000000	0.42294	D	0.000732	D	0.96731	0.8933	M	0.82323	2.585	0.35858	D	0.827266	D;B;D;B;D;D;D;D;B;D	0.89917	1.0;0.376;0.999;0.376;1.0;0.996;0.999;1.0;0.376;0.999	D;B;D;B;D;P;D;D;B;D	0.91635	0.994;0.099;0.984;0.099;0.998;0.901;0.968;0.999;0.099;0.982	D	0.96055	0.9034	8	.	.	.	.	19.5303	0.95226	0.0:1.0:0.0:0.0	.	717;688;688;866;804;362;362;362;688;362	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	F	362;866;688;688;362;688;688;688;362;728;362;362	ENSP00000244364:L362F;ENSP00000359790:L866F;ENSP00000359805:L688F;ENSP00000400883:L688F;ENSP00000393645:L362F;ENSP00000307959:L688F;ENSP00000359824:L688F;ENSP00000354508:L688F;ENSP00000404924:L362F;ENSP00000431030:L728F;ENSP00000359801:L362F;ENSP00000431003:L362F	.	L	-	3	2	DST	56612453	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.619000	0.88677	0.557000	0.71058	TTG		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	Missense_Mutation	13	959	1	0	1.08611e-07	6.40141e-05	2.24125e-05	13	959					A	56504494	C	A	56504494	5	1	123	1	0	0	0	0	0	0	1	0	4799	608	21	3	19385	3	DST	6	56504494	Splice_Site	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9707216	56504494	114610573	151	38337											
COX7A2	1347	broad.mit.edu	37	chr6	75950955	75950955	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctgcgggaagcagtgcttatCgtcctctgcccaatctgacg	11	13	2	1	rs139079443	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:75950955C>A	ENST00000230459.4	-	2	238	c.45G>T	c.(43-45)acG>acT	p.T15T	COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000370081.2_Silent_p.T47T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000509698.1_Silent_p.T15T	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358																																						ENST00000370081.2																			1	Substitution - coding silent(1)	p.T15T(1)	lung(1)	kidney(2)|lung(1)	3						c.(139-141)acG>acT		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							89	101	97					6																	75950955		2203	4300	6503	SO:0001819	synonymous_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75950955C>A	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.45G>T	6.37:g.75950955C>A						COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000230459.4_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron	p.T47T			P14406	CX7A2_HUMAN			3	451	-			15					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37	c.141G>T																																																																																					0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		11	846	1	0	1.58986e-06	3.86212e-05	0.000199287	11	846					A	75950955	C	A	75950955	2	1	123	1	0	0	0	0	0	0	0	1	3789	871	31	3		3	COX7A2	6	75950955	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	19446461	75950955	95164112	152	38338											
SENP6	26054	broad.mit.edu	37	chr6	76425185	76425185	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaaaagagaagaaatcCgaaacataattctgaagcta	7	6	1	3	rs184895201		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000370014.3_Silent_p.R1072R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	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)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125	118	120					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76425185C>A		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.3214C>A	6.37:g.76425185C>A						SENP6_ENST00000447266.2_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	p.R1072R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			24	3833	+		all_hematologic(105;0.189)	1072			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.3214C>A	CCDS47454.1																																																																																				0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		8	516	1	0	0.000157383	0.000157383	0.00973904	8	516					A	76425185	C	A	76425185	2	1	123	1	0	0	0	0	0	0	0	1	14100	644	23	3		3	SENP6	6	76425185	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	474230	76425185	94689882	153	38339											
TTK	7272	broad.mit.edu	37	chr6	80749500	80749500	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catttcagcagataattaatCagatttctaaattacatgcc	4	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:80749500C>A	ENST00000369798.2	+	19	2329	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K	TTK_ENST00000509894.1_Missense_Mutation_p.Q739K|TTK_ENST00000230510.3_Missense_Mutation_p.Q739K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	740	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)		GATAATTAATCAGATTTCTAA	0.308																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2215-2217)Cag>Aag		TTK protein kinase							66	67	67					6																	80749500		2203	4280	6483	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80749500C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2218C>A	6.37:g.80749500C>A	ENSP00000358813:p.Gln740Lys					TTK_ENST00000369798.2_Missense_Mutation_p.Q740K|TTK_ENST00000230510.3_Missense_Mutation_p.Q739K	p.Q739K			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	19	3044	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	740			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.2215C>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133678	0.56828	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65916	-0.18;-0.18;-0.18	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);	0.102243	0.64402	D	0.000002	T	0.52964	0.1767	L	0.31578	0.945	0.80722	D	1	P;P	0.52170	0.898;0.951	P;P	0.51777	0.647;0.679	T	0.49925	-0.8887	10	0.33141	T	0.24	.	18.5974	0.91234	0.0:1.0:0.0:0.0	.	740;739	P33981;A8K8U5	TTK_HUMAN;.	K	739;739;740	ENSP00000422936:Q739K;ENSP00000230510:Q739K;ENSP00000358813:Q740K	ENSP00000230510:Q739K	Q	+	1	0	TTK	80806219	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	5.753000	0.68736	2.628000	0.89032	0.650000	0.86243	CAG		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			12	752	1	0	0.000151284	0.000151284	0.00973904	12	752					A	80749500	C	A	80749500	3	1	123	1	0	0	0	0	1	0	0	0	16774	827	29	3	2288	3	TTK	6	80749500	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4324315	80749500	90365567	154	38340											
C6orf182	285753	broad.mit.edu	37	chr6	109480272	109480272	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttggcaaatttgttcAaagtttggagcactgccttt	8	10	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:109480272A>G	ENST00000517392.1	+	8	1215	c.789A>G	c.(787-789)tcA>tcG	p.S263S	CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000521522.1_Silent_p.S234S|CEP57L1_ENST00000407272.1_Silent_p.S263S|CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000368970.2_Silent_p.S263S	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	263					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAATTTGTTCAAAGTTTGGAG	0.328																																						ENST00000407272.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(787-789)tcA>tcG		centrosomal protein 57kDa-like 1							70	73	72					6																	109480272		2203	4300	6503	SO:0001819	synonymous_variant	285753					microtubule|microtubule organizing center		g.chr6:109480272A>G	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.789A>G	6.37:g.109480272A>G						CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000368970.2_Silent_p.S263S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000517392.1_Silent_p.S263S|CEP57L1_ENST00000521522.1_Silent_p.S234S	p.S263S	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN			10	1366	+			263					G5E992	Silent	SNP	ENST00000517392.1	37	c.789A>G	CCDS5071.1																																																																																				0.328	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		10	856	0	0	0	6.40141e-05	0	10	856					G	109480272	A	G	109480272	2	3	123	1	0	0	0	0	0	0	0	1	2353	117	5	4		4	C6orf182	6	109480272	Silent	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	28730772	109480272	61634795	155	38341											
PPIL6	285755	broad.mit.edu	37	chr6	109757309	109757309	+	Frame_Shift_Del	DEL	T	T	-													accccaaatatcctttacccTttttttctcctgtagatatt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:109757309delT	ENST00000521072.2	-	2	809	c.229delA	c.(229-231)aggfs	p.R77fs	PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	77					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCCTTTACCCTTTTTTTCTCC	0.338																																						ENST00000521072.2																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(229-231)ggfs		peptidylprolyl isomerase (cyclophilin)-like 6							112	120	117					6																	109757309		2203	4300	6503	SO:0001589	frameshift_variant	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109757309delT		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"radial spoke 12 homolog (Chlamydomonas)"						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.229delA	6.37:g.109757309delT	ENSP00000427929:p.Arg77fs					PPIL6_ENST00000424445.2_Intron|PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs	p.R77fs	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	2	809	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	77					A9NIU0|A9NIU9|E7EX15	Frame_Shift_Del	DEL	ENST00000521072.2	37	c.229delA	CCDS5074.1																																																																																				0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4			7	1018						7	1018	---	---	---	---	-	109757309	T	-	109757309	7	5	123	1	0	1	0	1	0	0	0	0	12378	1608	56	0	816	0	PPIL6	6	109757309	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	277037	109757309	61357758	156	38342											
RSPH4A	345895	broad.mit.edu	37	chr6	116944001	116944001	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaaatgctgttgacatctttGaaaatattagccaagatgtg	8	5	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:116944001G>T	ENST00000229554.5	+	2	894	c.757G>T	c.(757-759)Gaa>Taa	p.E253*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E253*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.E253*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	253					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGACATCTTTGAAAATATTAG	0.308									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(757-759)Gaa>Taa		radial spoke head 4 homolog A (Chlamydomonas)							95	103	101					6																	116944001		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116944001G>T		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.757G>T	6.37:g.116944001G>T	ENSP00000229554:p.Glu253*					RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.E253*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E253*	p.E253*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			2	894	+			253					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.757G>T	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	37	6.302340	0.97458	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842;ENST00000368580	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.144	13.533	0.61633	0.0:0.0:1.0:0.0	.	.	.	.	X	253;253;48;253	.	ENSP00000229554:E253X	E	+	1	0	RSPH4A	117050694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.784000	0.85713	2.661000	0.90470	0.609000	0.83330	GAA		0.308	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		11	949	1	0	1.49906e-05	1.49906e-05	0.00199465	11	949					T	116944001	G	T	116944001	4	4	123	1	0	0	0	0	0	1	0	0	13756	1291	45	3	763	3	RSPH4A	6	116944001	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7186692	116944001	54171066	157	38343											
PTPRK	5796	broad.mit.edu	37	chr6	128404925	128404925	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gttcaagaagatcttattttCaaaggatgttccttgaagag	9	5	3	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:128404925C>A	ENST00000368215.3	-	9	1509	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	504	Fibronectin type-III 3. {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)		ATCTTATTTTCAAAGGATGTT	0.348																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1510-1512)Gaa>Taa		protein tyrosine phosphatase, receptor type, K							104	103	103					6																	128404925		2203	4299	6502	SO:0001587	stop_gained	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128404925C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1510G>T	6.37:g.128404925C>A	ENSP00000357198:p.Glu504*					PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*	p.E504*			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	9	1876	-			504			Fibronectin type-III 3.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37	c.1510G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.548767	0.98352	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.7022	0.85357	0.1306:0.8694:0.0:0.0	.	.	.	.	X	504;504;504;504;504;504;504;361	.	ENSP00000357190:E504X	E	-	1	0	PTPRK	128446618	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.527000	0.49086	-0.188000	0.12872	GAA		0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	421	1	0	0.000157383	0.000157383	0.00973904	7	421					A	128404925	C	A	128404925	4	1	123	1	0	0	0	0	0	1	0	0	12855	835	29	3	2922	3	PTPRK	6	128404925	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11460924	128404925	42710142	158	38344											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T													caggaatctggtactgtttgINSttttttttcctcaaggtctg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		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)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	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.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		8	896						8	896	---	---	---	---	T	129959603	-	T	129959602	7	5	123	1	0	1	1	0	0	0	0	0	868	1368	48	0	1554	0	ARHGAP18	6	129959602	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	1554677	129959602	41155465	159	38345											
FUCA2	2519	broad.mit.edu	37	chr6	143823168	143823168	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aggaccccatttgcctcagtCgctcctcaaaaactacagaa	6	14	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:143823168C>A	ENST00000002165.6	-	5	1110	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	352					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)		TTGCCTCAGTCGCTCCTCAAA	0.443																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1054-1056)cGa>cTa		fucosidase, alpha-L- 2, plasma							89	86	87					6																	143823168		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823168C>A	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.1055G>T	6.37:g.143823168C>A	ENSP00000002165:p.Arg352Leu					RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_3'UTR|FUCA2_ENST00000438118.2_3'UTR	p.R352L	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	5	1110	-			352					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.1055G>T	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462906	0.96257	.	.	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.58358	0.34;0.34	5.98	5.98	0.97165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67898	-0.5551	10	0.30854	T	0.27	-21.6749	20.4581	0.99154	0.0:1.0:0.0:0.0	.	31;352	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	L	352;31	ENSP00000002165:R352L;ENSP00000398119:R31L	ENSP00000002165:R352L	R	-	2	0	FUCA2	143864861	1.000000	0.71417	0.910000	0.35882	0.949000	0.60115	7.445000	0.80570	2.835000	0.97688	0.650000	0.86243	CGA		0.443	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		9	451	1	0	3.07112e-06	6.40141e-05	0.00037162	9	451					A	143823168	C	A	143823168	3	1	123	1	0	0	0	0	1	0	0	0	6122	884	31	3	360	3	FUCA2	6	143823168	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	13863566	143823168	27291899	160	38346											
PLEKHG1	57480	broad.mit.edu	37	chr6	151153189	151153189	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cagggtgtttatgatggctcGgcagtacagtcagaagatta	13	6	1	3	rs113595784	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:151153189G>A	ENST00000358517.2	+	15	3153	c.2942G>A	c.(2941-2943)cGg>cAg	p.R981Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2941-2943)cGg>cAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							110	123	118					6																	151153189		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153189G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2942G>A	6.37:g.151153189G>A	ENSP00000351318:p.Arg981Gln					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R981Q	p.R981Q	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3254	+			981					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2942G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451520	0.96205	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30448	1.53;1.53	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68952	2.095	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.51108	-0.8747	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	788;981;981	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Q	981	ENSP00000356297:R981Q;ENSP00000351318:R981Q	ENSP00000351318:R981Q	R	+	2	0	PLEKHG1	151194882	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGG		0.507	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			12	773	0	0	0	6.40141e-05	0	12	773					A	151153189	G	A	151153189	3	1	123	1	0	0	0	0	1	0	0	0	12110	1116	39	1	2996	1	PLEKHG1	6	151153189	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7330021	151153189	19961878	161	38347											
TCP1	6950	broad.mit.edu	37	chr6	160202137	160202137	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ttctctccttggtgatatctGattctctgcaaagtattttt	6	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:160202137G>A	ENST00000321394.7	-	8	1083	c.803C>T	c.(802-804)tCa>tTa	p.S268L	SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	268					'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)		GGTGATATCTGATTCTCTGCA	0.328																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(802-804)tCa>tTa		t-complex 1							146	142	144					6																	160202137		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160202137G>A	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.803C>T	6.37:g.160202137G>A	ENSP00000317334:p.Ser268Leu					TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L	p.S268L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	8	1083	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	268					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.803C>T	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264755	0.40095	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.63	5.63	0.86233	.	0.054590	0.85682	D	0.000000	T	0.43722	0.1260	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.14578	0.002;0.011	T	0.50381	-0.8835	10	0.10902	T	0.67	-8.3473	19.6959	0.96026	0.0:0.0:1.0:0.0	.	268;268	E7ERF2;P17987	.;TCPA_HUMAN	L	268;44;268;113;66	ENSP00000317334:S268L;ENSP00000439447:S44L;ENSP00000390159:S268L;ENSP00000376008:S113L;ENSP00000441345:S66L	ENSP00000317334:S268L	S	-	2	0	TCP1	160122127	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	7.367000	0.79558	2.659000	0.90383	0.650000	0.86243	TCA		0.328	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		67	520	0	0	0	0.000147903	0	67	520					A	160202137	G	A	160202137	3	1	123	1	0	0	0	0	1	0	0	0	15761	1294	45	2	887	2	TCP1	6	160202137	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	9048948	160202137	10912930	162	38348											
KLHL7	55975	broad.mit.edu	37	chr7	23183515	23183515	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaaatacgatgaacctaatCgccagccatttatggttgat	8	8	0	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:23183515C>A	ENST00000339077.5	+	6	907	c.664C>A	c.(664-666)Cgc>Agc	p.R222S	KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000322231.7_Missense_Mutation_p.R200S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	222	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						TGAACCTAATCGCCAGCCATT	0.378																																						ENST00000322231.7																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(598-600)Cgc>Agc		kelch-like family member 7							224	209	214					7																	23183515		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23183515C>A		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.664C>A	7.37:g.23183515C>A	ENSP00000343273:p.Arg222Ser					KLHL7_ENST00000339077.4_Missense_Mutation_p.R222S|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S	p.R200S			Q8IXQ5	KLHL7_HUMAN			7	1088	+			222					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.598C>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603408	0.87157	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.43	5.43	0.79202	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.91354	3.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.957	D	0.90023	0.4129	10	0.87932	D	0	.	19.5857	0.95489	0.0:1.0:0.0:0.0	.	222;200	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	S	188;200;222;146;174;200	ENSP00000322958:R200S;ENSP00000343273:R222S;ENSP00000441136:R146S;ENSP00000386263:R174S;ENSP00000442366:R200S	ENSP00000322958:R200S	R	+	1	0	KLHL7	23150040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.696000	0.92011	0.591000	0.81541	CGC		0.378	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		13	1105	1	0	0.000151284	0.000151284	0.00973904	13	1105					A	23183515	C	A	23183515	3	1	123	1	0	0	0	0	1	0	0	0	8424	884	31	3	749	3	KLHL7	7	23183515	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		23183515	135955148	163	38349											
AVL9	23080	broad.mit.edu	37	chr7	32615681	32615681	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	agcacttgcagaaataaatcCaaagtaagcgcgtcctctga	8	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:32615681C>A	ENST00000318709.4	+	13	1906	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	562					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						GAAATAAATCCAAAGTAAGCG	0.378																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1684-1686)cCa>cAa		AVL9 homolog (S. cerevisiase)							128	124	125					7																	32615681		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32615681C>A	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1685C>A	7.37:g.32615681C>A	ENSP00000315568:p.Pro562Gln					AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	p.P562Q	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			13	1906	+			562					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1685C>A	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252531	0.95336	.	.	ENSG00000105778	ENST00000318709;ENST00000409301	T;T	0.54279	0.58;0.6	5.73	5.73	0.89815	.	0.055360	0.64402	D	0.000001	T	0.64702	0.2622	M	0.73217	2.22	0.80722	D	1	D	0.57899	0.981	P	0.49752	0.621	T	0.68697	-0.5340	10	0.72032	D	0.01	-21.0103	19.904	0.97001	0.0:1.0:0.0:0.0	.	562	Q8NBF6	AVL9_HUMAN	Q	562	ENSP00000315568:P562Q;ENSP00000387011:P562Q	ENSP00000315568:P562Q	P	+	2	0	AVL9	32582206	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.521000	0.81832	2.689000	0.91719	0.655000	0.94253	CCA		0.378	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		7	609	1	0	5.18039e-06	0.000157383	0.000614681	7	609					A	32615681	C	A	32615681	3	1	123	1	0	0	0	0	1	0	0	0	1229	594	21	3	1735	3	AVL9	7	32615681	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9432166	32615681	126522982	164	38350											
SBDS	51119	broad.mit.edu	37	chr7	66458225	66458225	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttttgtactcttgttGgttttcaccgaatagtggat	10	6	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:66458225G>T	ENST00000246868.2	-	3	621	c.438C>A	c.(436-438)acC>acA	p.T146T		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	146				T -> P (in Ref. 2; AAD34092). {ECO:0000305}.	bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TACTCTTGTTGGTTTTCACCG	0.393			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome																													ENST00000246868.2			yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"AML, MDS"			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(436-438)acC>acA		Shwachman-Bodian-Diamond syndrome							268	243	252					7																	66458225		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66458225G>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.438C>A	7.37:g.66458225G>T							p.T146T	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN			3	621	-			146	T -> P (in Ref. 2; AAD34092).				A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.438C>A	CCDS5537.1																																																																																				0.393	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	NM_016038		11	1255	1	0	3.86212e-05	3.86212e-05	0.00332401	11	1255					T	66458225	G	T	66458225	2	4	123	1	0	0	0	0	0	0	0	1	13907	1335	47	3		3	SBDS	7	66458225	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	33842544	66458225	92680438	165	38351											
MAGI2	9863	broad.mit.edu	37	chr7	77755148	77755148	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	catgtccacagtgaaataatCaaaatcctttggggttgggg	11	7	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:77755148C>A	ENST00000354212.4	-	20	3683	c.3430G>T	c.(3430-3432)Gat>Tat	p.D1144Y	MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1144					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)				GTGAAATAATCAAAATCCTTT	0.398																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3430-3432)Gat>Tat		membrane associated guanylate kinase, WW and PDZ domain containing 2							74	71	72					7																	77755148		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77755148C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3430G>T	7.37:g.77755148C>A	ENSP00000346151:p.Asp1144Tyr					MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y	p.D1144Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			20	3683	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1144					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3430G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826992	0.90955	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.17691	2.26;2.26;2.26	6.03	6.03	0.97812	PDZ/DHR/GLGF (1);	0.000000	0.37530	U	0.002049	T	0.33498	0.0865	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.03175	-1.1064	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1144;1130;1144	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Y	1130;1144;1144;1144	ENSP00000405766:D1130Y;ENSP00000346151:D1144Y;ENSP00000428389:D1144Y	ENSP00000346151:D1144Y	D	-	1	0	MAGI2	77593084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT		0.398	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		13	453	1	0	0.000151284	0.000151284	0.00973904	13	453					A	77755148	C	A	77755148	3	1	123	1	0	0	0	0	1	0	0	0	9232	826	29	3	949	3	MAGI2	7	77755148	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11296923	77755148	81383515	166	38352											
PCLO	27445	broad.mit.edu	37	chr7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-													ttttgtcttcaggggttggcTttttttcttctaggagtggc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:82595385delT	ENST00000333891.9	-	4	4056	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.K1240fs	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						AGGGGTTGGCTTTTTTTCTTC	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3718-3720)agfs		piccolo presynaptic cytomatrix protein							241	235	237					7																	82595385		1809	4074	5883	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595385delT	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.3719delA	7.37:g.82595385delT	ENSP00000334319:p.Lys1240fs					PCLO_ENST00000333891.8_Frame_Shift_Del_p.K1240fs	p.K1240fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	4056	-			1179						Frame_Shift_Del	DEL	ENST00000333891.9	37	c.3719delA	CCDS47630.1																																																																																				0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		12	1685						12	1685	---	---	---	---	-	82595385	T	-	82595385	7	5	123	1	0	1	0	1	0	0	0	0	11625	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	4840237	82595385	76543278	167	38353											
STEAP2	261729	broad.mit.edu	37	chr7	89856465	89856465	+	Frame_Shift_Del	DEL	T	T	-													tagctataagcttggccacaTtttttttcctttattccttt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:89856465delT	ENST00000287908.3	+	3	1066	c.673delT	c.(673-675)tttfs	p.F227fs	STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	227					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CTTGGCCACATTTTTTTTCCT	0.393																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(673-675)ttfs		STEAP family member 2, metalloreductase							108	103	105					7																	89856465		2203	4300	6503	SO:0001589	frameshift_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856465delT	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.673delT	7.37:g.89856465delT	ENSP00000287908:p.Phe227fs					STEAP2_ENST00000394626.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394632.1_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394629.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000402625.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394622.2_Frame_Shift_Del_p.F227fs|STEAP2_ENST00000394621.2_Frame_Shift_Del_p.F227fs	p.F227fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1066	+	all_hematologic(106;0.112)		227					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Frame_Shift_Del	DEL	ENST00000287908.3	37	c.673delT	CCDS5615.1																																																																																				0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		12	725						12	725	---	---	---	---	-	89856465	T	-	89856465	7	5	123	1	0	1	0	1	0	0	0	0	15330	1493	52	0	679	0	STEAP2	7	89856465	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	7261080	89856465	69282198	168	38354											
C7orf63	79846	broad.mit.edu	37	chr7	89894677	89894677	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgctgaagatactgctaattCaattgcacttctgggtaagt	9	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:89894677C>A	ENST00000389297.4	+	5	670	c.419C>A	c.(418-420)tCa>tAa	p.S140*	C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000463311.1_3'UTR	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		140										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTGCTAATTCAATTGCACTT	0.338																																						ENST00000389297.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(418-420)tCa>tAa		chromosome 7 open reading frame 63							135	135	135					7																	89894677		1840	4094	5934	SO:0001587	stop_gained	79846						binding	g.chr7:89894677C>A																												ENST00000389297.4:c.419C>A	7.37:g.89894677C>A	ENSP00000373948:p.Ser140*					C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*	p.S140*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN			5	670	+			140					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	ENST00000389297.4	37	c.419C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500480	0.64298	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	.	.	.	5.29	5.29	0.74685	.	0.161726	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4101	18.9074	0.92467	0.0:1.0:0.0:0.0	.	.	.	.	X	140;140;140;80	.	ENSP00000321753:S140X	S	+	2	0	C7orf63	89732613	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.081000	0.41596	2.456000	0.83038	0.591000	0.81541	TCA		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			11	991	1	0	0.00010058	0.00010058	0.0072096	11	991					A	89894677	C	A	89894677	4	1	123	1	0	0	0	0	0	1	0	0	2416	838	29	3	437	3	C7orf63	7	89894677	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	38212	89894677	69243986	169	38355											
SLC25A13	10165	broad.mit.edu	37	chr7	95813702	95813702	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttgatcgttggttctgcattCgagtttttacaagatcgata	9	6	1	2	rs398122839		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95813702C>T	ENST00000265631.5	-	11	1200	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	SLC25A13_ENST00000416240.2_Missense_Mutation_p.R356Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					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)	GTTCTGCATTCGAGTTTTTAC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		13282	0.0		0.0	False		,,,				2504	0.001					ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1066-1068)cGa>cAa		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						81	75	77					7																	95813702		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95813702C>T	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.1064G>A	7.37:g.95813702C>T	ENSP00000265631:p.Arg355Gln					SLC25A13_ENST00000265631.5_Missense_Mutation_p.R355Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q	p.R356Q	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		11	1257	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		355					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1067G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952987	0.92660	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.83591	-1.74;-1.74;-1.74	4.56	3.68	0.42216	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90728	0.7090	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.91822	0.5468	10	0.87932	D	0	-7.7694	12.8922	0.58078	0.0:0.9209:0.0:0.0791	.	247;356;355	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Q	355;356;247	ENSP00000265631:R355Q;ENSP00000400101:R356Q;ENSP00000440484:R247Q	ENSP00000265631:R355Q	R	-	2	0	SLC25A13	95651638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.279000	0.44446	0.655000	0.94253	CGA		0.373	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		66	261	0	0	0	0.000147903	0	66	261					T	95813702	C	T	95813702	3	4	123	1	0	0	0	0	1	0	0	0	14525	884	31	1	995	1	SLC25A13	7	95813702	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5919025	95813702	63324961	170	38356											
SLC25A13	10165	broad.mit.edu	37	chr7	95818680	95818680	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	aatccgttcaatgtctgctaAggtcatacgtctgtagggga	11	8	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95818680A>C	ENST00000265631.5	-	9	995	c.859T>G	c.(859-861)Tta>Gta	p.L287V	SLC25A13_ENST00000416240.2_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	287					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)	ATGTCTGCTAAGGTCATACGT	0.393																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(859-861)Tta>Gta		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						94	92	92					7																	95818680		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95818680A>C	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.859T>G	7.37:g.95818680A>C	ENSP00000265631:p.Leu287Val					SLC25A13_ENST00000265631.5_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V	p.L287V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		9	1049	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		287					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.859T>G	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	8.292	0.818007	0.16607	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80653	-1.4;-1.39;-1.37	4.69	3.55	0.40652	EF-hand-like domain (1);	.	.	.	.	T	0.79678	0.4487	M	0.83223	2.63	0.42021	D	0.990984	B;B;B	0.25206	0.12;0.073;0.073	B;B;B	0.28916	0.096;0.044;0.044	T	0.76326	-0.3000	9	0.42905	T	0.14	-8.2043	6.7603	0.23536	0.7888:0.0:0.0753:0.1359	.	179;287;287	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	287;287;179	ENSP00000265631:L287V;ENSP00000400101:L287V;ENSP00000440484:L179V	ENSP00000265631:L287V	L	-	1	2	SLC25A13	95656616	0.324000	0.24652	1.000000	0.80357	0.164000	0.22412	1.072000	0.30678	1.129000	0.42072	0.533000	0.62120	TTA		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		13	316	0	0	0	1.49906e-05	0	13	316					C	95818680	A	C	95818680	3	2	123	1	0	0	0	0	1	0	0	0	14525	69	3	4	1211	4	SLC25A13	7	95818680	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	4978	95818680	63319983	171	38357											
MEPCE	56257	broad.mit.edu	37	chr7	100028452	100028454	+	In_Frame_Del	DEL	CAG	CAG	-													gacaccggggacagcaccacCagcagcagcaggcagccgga							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:100028452_100028454delCAG	ENST00000310512.2	+	1	1199_1201	c.811_813delCAG	c.(811-813)cagdel	p.Q274del	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	274					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)					ACAGCACCACCAGCAGCAGCAGG	0.65																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)del		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028452_100028454delCAG	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.811_813delCAG	7.37:g.100028461_100028463delCAG	ENSP00000308546:p.Gln274del					MEPCE_ENST00000414441.1_5'UTR	p.Q274del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1199_1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		274					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.811_813delCAG	CCDS5693.1																																																																																				0.65	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			7	1061						7	1061	---	---	---	---	-	100028454	CAG	-	100028452	7	5	123	1	0	1	0	1	0	0	0	0	9518	595	21	0	813	0	MEPCE	7	100028452	In_Frame_Del	DEL	CAG	TCGA-YB-A89D-01A-12D-A36O-08	4209772	100028452	59110211	172	38358											
MEPCE	56257	broad.mit.edu	37	chr7	100028823	100028825	+	In_Frame_Del	DEL	CCA	CCA	-													cgagggagttggggaggccgCcaccaccaccaccacccact					rs71555278		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:100028823_100028825delCCA	ENST00000310512.2	+	1	1570_1572	c.1182_1184delCCA	c.(1180-1185)cgccac>cgc	p.H399del	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	399					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)					GGGGAGGCCGCCACCACCACCAC	0.581																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1180-1185)cgc>cg		methylphosphate capping enzyme																																				SO:0001651	inframe_deletion	56257						methyltransferase activity	g.chr7:100028823_100028825delCCA	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.1182_1184delCCA	7.37:g.100028832_100028834delCCA	ENSP00000308546:p.His399del					MEPCE_ENST00000414441.1_5'UTR	p.RH394del	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1570_1572	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		394					B3KP86|D6W5V7|Q9NPD4	In_Frame_Del	DEL	ENST00000310512.2	37	c.1182_1184delCCA	CCDS5693.1																																																																																				0.581	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			13	371						13	371	---	---	---	---	-	100028825	CCA	-	100028823	7	5	123	1	0	1	0	1	0	0	0	0	9518	726	26	0	1184	0	MEPCE	7	100028823	In_Frame_Del	DEL	CCA	TCGA-YB-A89D-01A-12D-A36O-08	371	100028823	59109840	173	38359											
CAPZA2	830	broad.mit.edu	37	chr7	116546325	116546326	+	Frame_Shift_Ins	INS	-	-	A													ttgccaataaggtgtatggcINSaaaaaaatagatggacagca							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:116546325_116546326insA	ENST00000361183.3	+	6	574_575	c.435_436insA	c.(436-438)aaafs	p.K146fs	CAPZA2_ENST00000458284.2_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	146					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)			AGGTGTATGGCAAAAAAATAGA	0.317																																						ENST00000361183.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(433-438)ggaaaafs		capping protein (actin filament) muscle Z-line, alpha 2																																				SO:0001589	frameshift_variant	830				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding	g.chr7:116546325_116546326insA		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.442dupA	7.37:g.116546332_116546332dupA	ENSP00000354947:p.Lys146fs					CAPZA2_ENST00000458284.2_Intron	p.GK145fs	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)		6	574_575	+	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		145					B4DG50	Frame_Shift_Ins	INS	ENST00000361183.3	37	c.435_436insA	CCDS5768.1																																																																																				0.317	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4	NM_006136		7	602						7	602	---	---	---	---	A	116546326	-	A	116546325	7	5	123	1	0	1	1	0	0	0	0	0	2648	697	25	0	457	0	CAPZA2	7	116546325	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	16517502	116546325	42592338	174	38360											
FLNC	2318	broad.mit.edu	37	chr7	128491395	128491395	+	Silent	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ccagccaccttcactattgtCaccaaagatgctggagaagg	9	12	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:128491395C>G	ENST00000325888.8	+	34	5910	c.5649C>G	c.(5647-5649)gtC>gtG	p.V1883V	FLNC_ENST00000346177.6_Silent_p.V1850V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1883					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						TCACTATTGTCACCAAAGATG	0.587																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5647-5649)gtC>gtG		filamin C, gamma							55	59	57					7																	128491395		2141	4263	6404	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491395C>G	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.5649C>G	7.37:g.128491395C>G						RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V1850V	p.V1883V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			34	5910	+			1883					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5649C>G	CCDS43644.1																																																																																				0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	291	0	0	0	1.23904e-05	0	5	291					G	128491395	C	G	128491395	2	3	123	1	0	0	0	0	0	0	0	1	5960	813	29	5		5	FLNC	7	128491395	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11945070	128491395	30647268	175	38361											
EXOC4	60412	broad.mit.edu	37	chr7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-													ctggacgagagtttgcagccTtttttgccaagaagaaacct							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					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)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123	127	126					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	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.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs|EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		7	1318						7	1318	---	---	---	---	-	133160181	T	-	133160181	7	5	123	1	0	1	0	1	0	0	0	0	5324	1609	56	0	1312	0	EXOC4	7	133160181	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	4668786	133160181	25978482	176	38362											
KEL	3792	broad.mit.edu	37	chr7	142650939	142650939	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	accagttgtgacatgtttttCaaatattccacgtcatggac	7	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142650939C>A	ENST00000355265.2	-	9	1503	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					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)					ACATGTTTTTCAAATATTCCA	0.557																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1027-1029)ttG>ttT		Kell blood group, metallo-endopeptidase							222	222	222					7																	142650939		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650939C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1029G>T	7.37:g.142650939C>A	ENSP00000347409:p.Leu343Phe					KEL_ENST00000479768.2_5'UTR	p.L343F	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1503	-	Melanoma(164;0.059)		343					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1029G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963308	0.53507	.	.	ENSG00000197993	ENST00000355265	T	0.76186	-1.0	5.78	2.87	0.33458	Peptidase M13 (1);	0.646012	0.13373	N	0.392767	T	0.78509	0.4294	M	0.79258	2.445	0.33148	D	0.545267	P	0.47841	0.901	P	0.53401	0.725	T	0.78868	-0.2034	10	0.31617	T	0.26	-8.148	5.8491	0.18683	0.1578:0.6713:0.0:0.1709	.	343	P23276	KELL_HUMAN	F	343	ENSP00000347409:L343F	ENSP00000347409:L343F	L	-	3	2	KEL	142361061	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	1.388000	0.34442	1.469000	0.48083	0.478000	0.44815	TTG		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		16	1216	1	0	2.31682e-05	2.31682e-05	0.00220351	16	1216					A	142650939	C	A	142650939	3	1	123	1	0	0	0	0	1	0	0	0	8172	825	29	3	1213	3	KEL	7	142650939	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9490758	142650939	16487724	177	38363											
NOS3	4846	broad.mit.edu	37	chr7	150704202	150704202	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	caccccaggttctgtgtgttCgggctcggctcccgggcata	13	14	1	0	rs148623908		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150704202C>A	ENST00000297494.3	+	17	2307	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L	NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGTGTGTTCGGGCTCGGCT	0.677																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1948-1950)ttC>ttA		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						103	102	102					7																	150704202		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704202C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1950C>A	7.37:g.150704202C>A	ENSP00000297494:p.Phe650Leu					NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	p.F650L	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2307	+	all_neural(206;0.219)		650			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1950C>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163531	0.57476	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.60299	0.2;0.2	4.92	-0.875	0.10628	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000005	T	0.60196	0.2250	L	0.42529	1.33	0.80722	D	1	D;P	0.53462	0.96;0.837	P;P	0.62813	0.907;0.727	T	0.58769	-0.7578	10	0.66056	D	0.02	-15.7684	8.4022	0.32592	0.0:0.3284:0.0:0.6716	.	444;650	E7ESA7;P29474	.;NOS3_HUMAN	L	650;444	ENSP00000297494:F650L;ENSP00000417143:F444L	ENSP00000297494:F650L	F	+	3	2	NOS3	150335135	0.725000	0.28048	0.998000	0.56505	0.982000	0.71751	-0.144000	0.10280	-0.022000	0.13986	0.499000	0.49734	TTC		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603		10	962	1	0	3.09899e-07	1.12685e-05	4.20825e-05	10	962					A	150704202	C	A	150704202	3	1	123	1	0	0	0	0	1	0	0	0	10586	883	31	3	2294	3	NOS3	7	150704202	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	8053263	150704202	8434461	178	38364											
ASB10	136371	broad.mit.edu	37	chr7	150878170	150878170	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cccccatagtccatggtgttGgcgctgacaccacaggacag	11	14	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150878170G>T	ENST00000420175.2	-	3	984	c.960C>A	c.(958-960)gcC>gcA	p.A320A	ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000422024.1_Silent_p.A365A|ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000377867.3_Silent_p.A305A			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	320			A -> T (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGTGTTGGCGCTGACAC	0.682																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1093-1095)gcC>gcA		ankyrin repeat and SOCS box containing 10							48	41	43					7																	150878170		2203	4297	6500	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878170G>T	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.960C>A	7.37:g.150878170G>T						ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000420175.2_Silent_p.A320A|ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000377867.3_Silent_p.A305A	p.A365A	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1220	-			320					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.1095C>A	CCDS47750.2																																																																																				0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		6	274	1	0	5.18039e-06	0.000157383	0.000614681	6	274					T	150878170	G	T	150878170	2	4	123	1	0	0	0	0	0	0	0	1	1015	1335	47	3		3	ASB10	7	150878170	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	173968	150878170	8260493	179	38365											
PSD3	23362	broad.mit.edu	37	chr8	18393349	18393349	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgattggagaagtatcCgggttcagcgaaggactcga	15	7	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:18393349C>A	ENST00000327040.8	-	16	3150	c.3048G>T	c.(3046-3048)ccG>ccT	p.P1016P	PSD3_ENST00000286485.8_Silent_p.P482P|PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000440756.2_Silent_p.P1018P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1017					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)		GAGAAGTATCCGGGTTCAGCG	0.483																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3052-3054)ccG>ccT		pleckstrin and Sec7 domain containing 3							199	162	174					8																	18393349		2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393349C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.3048G>T	8.37:g.18393349C>A						PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000327040.8_Silent_p.P1016P|PSD3_ENST00000286485.8_Silent_p.P482P	p.P1018P			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3156	-			1017					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.3054G>T	CCDS43720.1																																																																																				0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		6	563	1	0	1.06961e-07	0.000157383	1.49397e-05	6	563					A	18393349	C	A	18393349	2	1	123	1	0	0	0	0	0	0	0	1	12695	639	23	3		3	PSD3	8	18393349	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		18393349	127970673	180	38366											
CDCA2	157313	broad.mit.edu	37	chr8	25319666	25319666	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctgattcgtttcattgctcGgcagcaaaatataaagaatg	8	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:25319666G>T	ENST00000330560.3	+	4	806	c.329G>T	c.(328-330)cGg>cTg	p.R110L	CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	110					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)		TTCATTGCTCGGCAGCAAAAT	0.423																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(328-330)cGg>cTg		cell division cycle associated 2							95	96	96					8																	25319666		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25319666G>T	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.329G>T	8.37:g.25319666G>T	ENSP00000328228:p.Arg110Leu					CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	p.R110L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	4	806	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	110					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.329G>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621391	0.46736	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.34072	1.38;1.38	5.4	4.14	0.48551	.	0.389705	0.20703	N	0.087238	T	0.25644	0.0624	L	0.29908	0.895	0.32580	N	0.528554	B;B;B	0.23937	0.094;0.043;0.043	B;B;B	0.20384	0.018;0.029;0.029	T	0.25606	-1.0127	10	0.66056	D	0.02	-5.2524	8.0077	0.30334	0.9055:0.0:0.0945:0.0	.	110;95;110	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	L	110;95	ENSP00000328228:R110L;ENSP00000370040:R95L	ENSP00000328228:R110L	R	+	2	0	CDCA2	25375583	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.167000	0.42415	0.864000	0.35578	-0.657000	0.03884	CGG		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		18	666	1	0	7.07596e-05	7.07596e-05	0.00545608	18	666					T	25319666	G	T	25319666	3	4	123	1	0	0	0	0	1	0	0	0	3095	1116	39	3	339	3	CDCA2	8	25319666	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6926317	25319666	121044356	181	38367											
C8orf80	389643	broad.mit.edu	37	chr8	27927120	27927120	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	aagacagactgaataagtttCtgataagtgttgctcaaaac	8	6	2	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:27927120C>G	ENST00000413272.2	-	4	340	c.198G>C	c.(196-198)caG>caC	p.Q66H	NUGGC_ENST00000341513.6_Missense_Mutation_p.Q66H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	66					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)										GAATAAGTTTCTGATAAGTGT	0.418																																						ENST00000413272.2																			0											c.(196-198)caG>caC		nuclear GTPase, germinal center associated							141	138	139					8																	27927120		1922	4138	6060	SO:0001583	missense	389643							g.chr8:27927120C>G	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.198G>C	8.37:g.27927120C>G	ENSP00000408697:p.Gln66His					NUGGC_ENST00000341513.6_Missense_Mutation_p.Q66H	p.Q66H	NM_001010906.1	NP_001010906.1					4	340	-								Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.198G>C	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826699	0.71143	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.17054	2.3;2.3	5.49	4.6	0.57074	.	0.000000	0.64402	D	0.000010	T	0.28366	0.0701	L	0.36672	1.1	0.35510	D	0.800545	D	0.89917	1.0	D	0.75484	0.986	T	0.13926	-1.0491	10	0.59425	D	0.04	-16.1764	9.5385	0.39237	0.0:0.9061:0.0:0.0939	.	66	Q68CJ6	SLIP_HUMAN	H	66	ENSP00000408697:Q66H;ENSP00000345031:Q66H	ENSP00000345031:Q66H	Q	-	3	2	C8orf80	27983039	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.713000	0.37951	2.731000	0.93534	0.650000	0.86243	CAG		0.418	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		88	403	0	0	0	0.000147903	0	88	403					G	27927120	C	G	27927120	3	3	123	1	0	0	0	0	1	0	0	0	2446	912	32	5	2256	5	C8orf80	8	27927120	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2607454	27927120	118436902	182	38368											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	489						9	489	---	---	---	---	-	30945379	AAG	-	30945377	7	5	123	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-YB-A89D-01A-12D-A36O-08	3018257	30945377	115418645	183	38369											
RP1	6101	broad.mit.edu	37	chr8	55539537	55539537	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcacagtcagctattaAtgatcataatactaaaagtc	5	7	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:55539537A>G	ENST00000220676.1	+	4	3243	c.3095A>G	c.(3094-3096)aAt>aGt	p.N1032S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1032					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)			TCAGCTATTAATGATCATAAT	0.378																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3094-3096)aAt>aGt		retinitis pigmentosa 1 (autosomal dominant)							158	173	168					8																	55539537		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539537A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3095A>G	8.37:g.55539537A>G	ENSP00000220676:p.Asn1032Ser						p.N1032S	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3243	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1032						Missense_Mutation	SNP	ENST00000220676.1	37	c.3095A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	2.654	-0.281375	0.05642	.	.	ENSG00000104237	ENST00000220676	T	0.20881	2.04	5.32	1.41	0.22369	.	0.779574	0.11892	N	0.519542	T	0.08891	0.0220	N	0.04959	-0.14	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.29150	-1.0021	10	0.41790	T	0.15	.	3.9076	0.09190	0.5898:0.0:0.2595:0.1508	.	1032	P56715	RP1_HUMAN	S	1032	ENSP00000220676:N1032S	ENSP00000220676:N1032S	N	+	2	0	RP1	55702090	0.000000	0.05858	0.006000	0.13384	0.072000	0.16883	-0.139000	0.10358	0.435000	0.26365	0.533000	0.62120	AAT		0.378	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		210	784	0	0	0	0.000147903	0	210	784					G	55539537	A	G	55539537	3	3	123	1	0	0	0	0	1	0	0	0	13582	101	4	4	3105	4	RP1	8	55539537	Missense_Mutation	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	24594160	55539537	90824485	184	38370											
VCPIP1	80124	broad.mit.edu	37	chr8	67577681	67577681	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gggaaagctgtaatttttgtCagtcctcagctgtccatgag	11	8	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67577681C>A	ENST00000310421.4	-	1	1771	c.1513G>T	c.(1513-1515)Gac>Tac	p.D505Y	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	505					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATTTTTGTCAGTCCTCAGC	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1513-1515)Gac>Tac		valosin containing protein (p97)/p47 complex interacting protein 1							164	172	169					8																	67577681		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577681C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1513G>T	8.37:g.67577681C>A	ENSP00000309031:p.Asp505Tyr						p.D505Y	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1771	-		Lung NSC(129;0.142)|all_lung(136;0.227)	505					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1513G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058413	0.55325	.	.	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.57665	-0.7772	10	0.62326	D	0.03	-10.4364	18.9562	0.92659	0.0:1.0:0.0:0.0	.	505	Q96JH7	VCIP1_HUMAN	Y	505	ENSP00000309031:D505Y	ENSP00000309031:D505Y	D	-	1	0	VCPIP1	67740235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.655000	0.94253	GAC		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			15	976	1	0	9.31168e-06	0.000151284	0.00101158	15	976					A	67577681	C	A	67577681	3	1	123	1	0	0	0	0	1	0	0	0	17195	826	29	3	2167	3	VCPIP1	8	67577681	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	12038144	67577681	78786341	185	38371											
VCPIP1	80124	broad.mit.edu	37	chr8	67578760	67578760	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccggagaagcttggccCggcctgtctgtttgtccatt	12	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67578760C>A	ENST00000310421.4	-	1	692	c.434G>T	c.(433-435)cGg>cTg	p.R145L	C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	145					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGCTTGGCCCGGCCTGTCTG	0.517																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(433-435)cGg>cTg		valosin containing protein (p97)/p47 complex interacting protein 1							106	97	100					8																	67578760		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578760C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.434G>T	8.37:g.67578760C>A	ENSP00000309031:p.Arg145Leu						p.R145L	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	692	-		Lung NSC(129;0.142)|all_lung(136;0.227)	145					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.434G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599893	0.46318	.	.	ENSG00000175073	ENST00000310421	T	0.33654	1.4	6.17	6.17	0.99709	.	0.250144	0.40554	N	0.001077	T	0.19406	0.0466	N	0.08118	0	0.35845	D	0.826367	B	0.23891	0.093	B	0.21151	0.033	T	0.13899	-1.0492	10	0.87932	D	0	-9.9394	8.1392	0.31073	0.0:0.8201:0.0:0.1799	.	145	Q96JH7	VCIP1_HUMAN	L	145	ENSP00000309031:R145L	ENSP00000309031:R145L	R	-	2	0	VCPIP1	67741314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.008000	0.57103	2.941000	0.99782	0.655000	0.94253	CGG		0.517	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			8	572	1	0	2.17888e-05	2.17888e-05	0.00213033	8	572					A	67578760	C	A	67578760	3	1	123	1	0	0	0	0	1	0	0	0	17195	652	23	3	3246	3	VCPIP1	8	67578760	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1079	67578760	78785262	186	38372											
JPH1	56704	broad.mit.edu	37	chr8	75149493	75149493	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaaaaagaatggccaaccCgatattcaacagcatgacaa	6	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:75149493C>A	ENST00000342232.4	-	5	1991	c.1951G>T	c.(1951-1953)Ggg>Tgg	p.G651W	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	651					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G651W(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATGGCCAACCCGATATTCAAC	0.318																																						ENST00000342232.4																			1	Substitution - Missense(1)	p.G651W(1)	lung(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1951-1953)Ggg>Tgg		junctophilin 1							107	99	102					8																	75149493		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75149493C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1951G>T	8.37:g.75149493C>A	ENSP00000344488:p.Gly651Trp					JPH1_ENST00000518195.1_5'UTR	p.G651W	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		5	1991	-	Breast(64;0.00576)		651					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1951G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335460	0.81801	.	.	ENSG00000104369	ENST00000342232	T	0.78924	-1.22	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	19.008	0.92859	0.0:1.0:0.0:0.0	.	651	Q9HDC5	JPH1_HUMAN	W	651	ENSP00000344488:G651W	ENSP00000344488:G651W	G	-	1	0	JPH1	75312047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.943000	0.75934	2.740000	0.93945	0.650000	0.86243	GGG		0.318	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			9	864	1	0	3.86212e-05	3.86212e-05	0.00332401	9	864					A	75149493	C	A	75149493	3	1	123	1	0	0	0	0	1	0	0	0	7990	652	23	3	38	3	JPH1	8	75149493	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	7570733	75149493	71214529	187	38373											
FAM164A	51101	broad.mit.edu	37	chr8	79590841	79590841	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gaagactgcaactaaaaaacGgaagacttttgattcaagca	8	7	1	3	rs201638521		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:79590841G>T	ENST00000263849.4	+	3	239	c.137G>T	c.(136-138)cGg>cTg	p.R46L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	46							metal ion binding (GO:0046872)										ACTAAAAAACGGAAGACTTTT	0.368																																						ENST00000263849.4																			0											c.(136-138)cGg>cTg		zinc finger, C2HC-type containing 1A							125	133	130					8																	79590841		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79590841G>T		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.137G>T	8.37:g.79590841G>T	ENSP00000263849:p.Arg46Leu					ZC2HC1A_ENST00000521176.1_3'UTR	p.R46L	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			3	239	+			46					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.137G>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329823	0.95733	.	.	ENSG00000104427	ENST00000263849	T	0.60040	0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83372	0.5240	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86618	0.1877	9	.	.	.	-10.7436	19.8459	0.96707	0.0:0.0:1.0:0.0	.	46	Q96GY0	F164A_HUMAN	L	46	ENSP00000263849:R46L	.	R	+	2	0	FAM164A	79753396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.788000	0.95919	0.585000	0.79938	CGG		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		13	1019	1	0	2.17888e-05	2.17888e-05	0.00213033	13	1019					T	79590841	G	T	79590841	3	4	123	1	0	0	0	0	1	0	0	0	5499	1116	39	3	147	3	FAM164A	8	79590841	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4441348	79590841	66773181	188	38374											
NBN	4683	broad.mit.edu	37	chr8	90965576	90965576	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gacatcttcctcctgtttttGaactttcacatcaatttcta	3	11	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:90965576G>T	ENST00000265433.3	-	11	1895	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	581					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)			TCCTGTTTTTGAACTTTCACA	0.348								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1741-1743)Caa>Aaa	Homologous recombination	nibrin							315	311	312					8																	90965576		2203	4299	6502	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965576G>T	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.1741C>A	8.37:g.90965576G>T	ENSP00000265433:p.Gln581Lys					NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	p.Q581K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1895	-			581					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1741C>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749994	0.15778	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58060	1.99;0.36	5.29	0.895	0.19247	.	1.667470	0.02817	N	0.125095	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.12766	T	0.61	-0.018	9.8904	0.41288	0.0:0.5366:0.322:0.1413	.	581;581	A6H8Y5;O60934	.;NBN_HUMAN	K	581;499	ENSP00000265433:Q581K;ENSP00000386924:Q499K	ENSP00000265433:Q581K	Q	-	1	0	NBN	91034752	0.001000	0.12720	0.261000	0.24466	0.911000	0.54048	0.129000	0.15830	0.139000	0.18822	0.650000	0.86243	CAA		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		16	830	1	0	1.33834e-09	9.7654e-05	1.9472e-07	16	830					T	90965576	G	T	90965576	3	4	123	1	0	0	0	0	1	0	0	0	10232	1299	45	3	547	3	NBN	8	90965576	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11374735	90965576	55398446	189	38375											
RBM12B	389677	broad.mit.edu	37	chr8	94745981	94745981	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccttctgggcgaccaaaattCacaaaagggcggtgacttct	10	11	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:94745981C>A	ENST00000399300.2	-	3	2871	c.2658G>T	c.(2656-2658)gtG>gtT	p.V886V	RBM12B_ENST00000517700.1_Silent_p.V766V|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	886							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GACCAAAATTCACAAAAGGGC	0.448																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2656-2658)gtG>gtT		RNA binding motif protein 12B							158	161	160					8																	94745981		1799	4068	5867	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94745981C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2658G>T	8.37:g.94745981C>A						RBM12B_ENST00000517700.1_Silent_p.V766V|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	p.V886V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2871	-	Breast(36;4.14e-07)		886					A8MYB5	Silent	SNP	ENST00000399300.2	37	c.2658G>T	CCDS43755.1																																																																																				0.448	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		17	1211	1	0	0.000151284	0.000151284	0.00973904	17	1211					A	94745981	C	A	94745981	2	1	123	1	0	0	0	0	0	0	0	1	13164	813	29	3		3	RBM12B	8	94745981	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3780405	94745981	51618041	190	38376											
MTERFD1	51001	broad.mit.edu	37	chr8	97263135	97263135	+	Splice_Site	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	atccttttaaaagtcctaccTggtcttcagattttcaaggt	6	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:97263135T>A	ENST00000287025.3	-	4	774	c.676A>T	c.(676-678)Agg>Tgg	p.R226W	MTERFD1_ENST00000524341.1_Splice_Site_p.R36W|MTERFD1_ENST00000523821.1_Splice_Site_p.R226W|MTERFD1_ENST00000522822.1_Splice_Site_p.R105W	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		226					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAGTCCTACCTGGTCTTCAGA	0.368																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.e4+1		MTERF domain containing 1							81	84	83					8																	97263135		2203	4300	6503	SO:0001630	splice_region_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97263135T>A																												ENST00000287025.3:c.677+1A>T	8.37:g.97263135T>A						MTERFD1_ENST00000522822.1_Splice_Site_p.R105_splice|MTERFD1_ENST00000287025.3_Splice_Site_p.R226_splice|MTERFD1_ENST00000524341.1_Splice_Site_p.R36_splice	p.R226_splice			Q96E29	MTER1_HUMAN			4	795	-	Breast(36;5.16e-05)		226					B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.677_splice	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566661	0.65651	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.72	5.72	0.89469	.	0.090695	0.85682	D	0.000000	T	0.38054	0.1026	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26883	-1.0090	10	0.40728	T	0.16	-6.2986	14.5668	0.68182	0.0:0.0:0.0:1.0	.	226;226	E5RIK9;Q96E29	.;MTER1_HUMAN	W	226;105;36;226	ENSP00000429400:R226W;ENSP00000430138:R105W;ENSP00000429267:R36W;ENSP00000287025:R226W	ENSP00000287025:R226W	R	-	1	2	MTERFD1	97332311	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	5.366000	0.66122	2.172000	0.68678	0.482000	0.46254	AGG		0.368	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1		Missense_Mutation	96	400	0	0	0	0.000147903	0	96	400					A	97263135	T	A	97263135	5	1	123	1	0	0	0	0	0	0	1	0	9960	1594	55	5	597	5	MTERFD1	8	97263135	Splice_Site	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	2517154	97263135	49100887	191	38377											
POP1	10940	broad.mit.edu	37	chr8	99142441	99142441	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctatcgagccatgacgaaccGgtgcctcctgcaggtgagct	12	13	0	2	rs148502433		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:99142441G>A	ENST00000401707.2	+	5	803	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	241					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATGACGAACCGGTGCCTCCTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.0		0.001	False		,,,				2504	0.0					ENST00000401707.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(721-723)cGg>cAg		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	75	74	74		722,722,722	-1.7	0	8	dbSNP_134	74	2,8596		0,2,4297	yes	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	43,43,43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	241/1025,241/1025,241/1025	99142441	2,13002	2203	4299	6502	SO:0001583	missense	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99142441G>A	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.722G>A	8.37:g.99142441G>A	ENSP00000385787:p.Arg241Gln					POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	p.R241Q	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		5	803	+	Breast(36;1.78e-06)		241					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.722G>A	CCDS6277.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.70	1.424994	0.25639	0.0	2.33E-4	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41758	0.99;0.99	5.91	-1.73	0.08081	Ribonuclease P/MRP, subunit POP1 (1);	0.441265	0.23766	N	0.044766	T	0.20170	0.0485	L	0.28400	0.85	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.06917	-1.0800	9	.	.	.	-14.9496	0.3734	0.00383	0.3481:0.131:0.2675:0.2534	.	241	Q99575	POP1_HUMAN	Q	241	ENSP00000385787:R241Q;ENSP00000339529:R241Q	.	R	+	2	0	POP1	99211617	0.044000	0.20184	0.001000	0.08648	0.221000	0.24807	1.582000	0.36568	-0.185000	0.10550	-0.176000	0.13171	CGG		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	NM_015029		7	540	0	0	0	1.12685e-05	0	7	540					A	99142441	G	A	99142441	3	1	123	1	0	0	0	0	1	0	0	0	12293	1116	39	1	736	1	POP1	8	99142441	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1879306	99142441	47221581	192	38378											
RGS22	26166	broad.mit.edu	37	chr8	101076229	101076229	+	Frame_Shift_Del	DEL	T	T	-													tgttggttttagatgggtccTtttttgtcctagggtgaact							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr8:101076229delT	ENST00000360863.6	-	8	961	c.767delA	c.(766-768)aagfs	p.K256fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	256					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)			AGATGGGTCCTTTTTTGTCCT	0.328																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(766-768)agfs		regulator of G-protein signaling 22							132	137	136					8																	101076229		1803	4063	5866	SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076229delT	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.767delA	8.37:g.101076229delT	ENSP00000354109:p.Lys256fs					RGS22_ENST00000523437.1_Frame_Shift_Del_p.K244fs|RGS22_ENST00000523287.1_Frame_Shift_Del_p.K75fs	p.K256fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	961	-			256					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Del	DEL	ENST00000360863.6	37	c.767delA	CCDS43758.1																																																																																				0.328	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		8	1471						8	1471	---	---	---	---	-	101076229	T	-	101076229	7	5	123	1	0	1	0	1	0	0	0	0	13355	1609	56	0	3107	0	RGS22	8	101076229	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	1933788	101076229	45287793	193	38379											
CSMD3	114788	broad.mit.edu	37	chr8	113256691	113256691	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctctatgttctgttccacctGctaagaagaagccaggctga	9	11	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:113256691G>A	ENST00000297405.5	-	65	10578	c.10334C>T	c.(10333-10335)gCa>gTa	p.A3445V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A3445V(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						TGTTCCACCTGCTAAGAAGAA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.A3445V(1)	large_intestine(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10333-10335)gCa>gTa		CUB and Sushi multiple domains 3							132	116	121					8																	113256691		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256691G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10334C>T	8.37:g.113256691G>A	ENSP00000297405:p.Ala3445Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V	p.A3445V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			65	10578	-			3445			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10334C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522882	0.85600	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.37	4.5	0.54988	Complement control module (2);Sushi/SCR/CCP (3);	0.171297	0.39615	N	0.001317	T	0.55800	0.1943	N	0.10618	0.005	0.43896	D	0.996523	P;P;D	0.58970	0.532;0.65;0.984	B;B;P	0.59171	0.356;0.428;0.853	T	0.56768	-0.7924	10	0.25106	T	0.35	.	14.1728	0.65522	0.0714:0.0:0.9286:0.0	.	3276;3445;3405	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3405;3445;2715;3276;3375	ENSP00000345799:A3405V;ENSP00000297405:A3445V;ENSP00000341558:A2715V;ENSP00000412263:A3276V;ENSP00000343124:A3375V	ENSP00000297405:A3445V	A	-	2	0	CSMD3	113325867	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.554000	0.82212	1.508000	0.48769	-0.229000	0.12294	GCA		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		52	450	0	0	0	0.000147903	0	52	450					A	113256691	G	A	113256691	3	1	123	1	0	0	0	0	1	0	0	0	3957	1319	46	2	817	2	CSMD3	8	113256691	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12180462	113256691	33107331	194	38380											
COL14A1	7373	broad.mit.edu	37	chr8	121160132	121160132	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tggttgcttccaccttttttGgcaattgtttatttctgcac	7	9	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:121160132G>T	ENST00000297848.3	+	2	321	c.51G>T	c.(49-51)ttG>ttT	p.L17F	COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F	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)			CACCTTTTTTGGCAATTGTTT	0.408																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(49-51)ttG>ttT		collagen, type XIV, alpha 1							116	109	111					8																	121160132		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160132G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.51G>T	8.37:g.121160132G>T	ENSP00000297848:p.Leu17Phe					COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F	p.L17F	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	321	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		17						Missense_Mutation	SNP	ENST00000297848.3	37	c.51G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102890	0.20632	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.88896	0.4;-2.23;-2.26;-2.44	5.92	5.04	0.67666	.	0.680937	0.13024	N	0.419846	D	0.82683	0.5090	N	0.24115	0.695	0.20563	N	0.999883	B	0.02656	0.0	B	0.04013	0.001	T	0.73927	-0.3828	10	0.66056	D	0.02	.	12.49	0.55895	0.0:0.0:0.8328:0.1672	.	17	Q05707	COEA1_HUMAN	F	17	ENSP00000443974:L17F;ENSP00000311809:L17F;ENSP00000297848:L17F;ENSP00000247781:L17F	ENSP00000247781:L17F	L	+	3	2	COL14A1	121229313	0.226000	0.23696	0.731000	0.30826	0.189000	0.23516	1.973000	0.40550	1.505000	0.48720	0.655000	0.94253	TTG		0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		8	423	1	0	3.07112e-06	6.40141e-05	0.00037162	8	423					T	121160132	G	T	121160132	3	4	123	1	0	0	0	0	1	0	0	0	3680	1339	47	3	53	3	COL14A1	8	121160132	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7903441	121160132	25203890	195	38381											
RNF139	83940	broad.mit.edu	37	chr8	125498200	125498200	+	IGR	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	attatgcttctttgcacattGacttctatggtgcctacaac	6	10	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:125498200G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.D104Y	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGCACATTGACTTCTATGG	0.433																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(310-312)Gac>Tac		ring finger protein 139							183	156	165					8																	125498200		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498200G>T	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.125498200G>T							p.D104Y	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	682	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		104					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.310G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808629	0.50421	.	.	ENSG00000170881	ENST00000303545	T	0.26067	1.76	5.06	5.06	0.68205	.	0.102754	0.64402	D	0.000004	T	0.37320	0.0999	L	0.59436	1.845	0.52501	D	0.999959	D	0.61080	0.989	P	0.58077	0.832	T	0.18555	-1.0333	10	0.72032	D	0.01	-14.249	6.8961	0.24257	0.2166:0.0:0.7834:0.0	.	104	Q8WU17	RN139_HUMAN	Y	104	ENSP00000304051:D104Y	ENSP00000304051:D104Y	D	+	1	0	RNF139	125567381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.790000	0.69038	2.501000	0.84356	0.650000	0.86243	GAC		0.433	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		15	689	1	0	3.45872e-05	3.45872e-05	0.0032145	15	689					T	125498200	G	T	125498200	1	4	123	0	1	0	0	0	0	0	0	0	13492	1290	45	3		3	RNF139	8	125498200	IGR	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4338068	125498200	20865822	196	38382											
CDKN2A	1029	broad.mit.edu	37	chr9	21971096	21971096	+	Frame_Shift_Del	DEL	C	C	-													cagcgtgtccaggaagccctCccgggcagcgtcgtgcacgg					rs121913384		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:21971096delC	ENST00000304494.5	-	2	532	c.262delG	c.(262-264)gagfs	p.E88fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		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.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(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)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(304-306)gafs		cyclin-dependent kinase inhibitor 2A							13	16	15					9																	21971096		2176	4259	6435	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971096delC	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.262delG	9.37:g.21971096delC	ENSP00000307101:p.Glu88fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.G144fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.G103fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.E88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.E37fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.E37fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.E37fs	p.G103fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	597	-		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)	0					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.305delG	CCDS6510.1																																																																																				0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		30	98						30	98	---	---	---	---	-	21971096	C	-	21971096	7	5	123	1	0	1	0	1	0	0	0	0	3170	864	30	0	216	0	CDKN2A	9	21971096	Frame_Shift_Del	DEL	C	TCGA-YB-A89D-01A-12D-A36O-08		21971096	119242335	197	38383											
DDX58	23586	broad.mit.edu	37	chr9	32485248	32485248	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatgatgtatttaaatttgtCgctaatccgtgattccactt	6	7	0	2	rs368484093		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:32485248C>A	ENST00000379883.2	-	10	1562	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379882.1_Missense_Mutation_p.D424Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	469	Interaction with ZC3HAV1.				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)		TTAAATTTGTCGCTAATCCGT	0.363																																						ENST00000379882.1																			0				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						c.(1270-1272)Gac>Tac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							132	130	131					9																	32485248		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32485248C>A	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.1405G>T	9.37:g.32485248C>A	ENSP00000369213:p.Asp469Tyr					DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379883.2_Missense_Mutation_p.D469Y	p.D424Y			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	9	1427	-			469			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.1270G>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462544	0.26248	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.12465	3.21;3.18;3.1;3.06;2.68	4.95	-6.27	0.02026	.	0.396898	0.23215	N	0.050630	T	0.26738	0.0654	M	0.85630	2.765	0.09310	N	0.999999	D;P;P;D	0.67145	0.982;0.886;0.91;0.996	P;P;B;P	0.54815	0.672;0.578;0.374;0.761	T	0.11567	-1.0582	10	0.62326	D	0.03	-3.7673	13.289	0.60260	0.0:0.2803:0.0:0.7197	.	266;424;398;469	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	Y	424;469;266;398;266	ENSP00000369212:D424Y;ENSP00000369213:D469Y;ENSP00000369197:D266Y;ENSP00000442160:D398Y;ENSP00000443055:D266Y	ENSP00000369197:D266Y	D	-	1	0	DDX58	32475248	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-0.292000	0.08332	-1.244000	0.02516	0.655000	0.94253	GAC		0.363	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		9	691	1	0	6.40141e-05	6.40141e-05	0.00496729	9	691					A	32485248	C	A	32485248	3	1	123	1	0	0	0	0	1	0	0	0	4386	884	31	3	1408	3	DDX58	9	32485248	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	10514152	32485248	108728183	198	38384											
GRHPR	9380	broad.mit.edu	37	chr9	37425978	37425978	+	Frame_Shift_Del	DEL	G	G	-													tcgaccacttggctttggatGaaatcaagaagcggtaactg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:37425978delG	ENST00000318158.6	+	3	359	c.274delG	c.(274-276)gaafs	p.E92fs	GRHPR_ENST00000607784.1_Frame_Shift_Del_p.E92fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	92					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)		GGCTTTGGATGAAATCAAGAA	0.483																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(274-276)aafs		glyoxylate reductase/hydroxypyruvate reductase							114	99	104					9																	37425978		2203	4300	6503	SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37425978delG	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.274delG	9.37:g.37425978delG	ENSP00000313432:p.Glu92fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Del_p.E92fs	p.E92fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	3	279	+			92					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Del	DEL	ENST00000318158.6	37	c.274delG	CCDS6609.1																																																																																				0.483	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		24	328						24	328	---	---	---	---	-	37425978	G	-	37425978	7	5	123	1	0	1	0	1	0	0	0	0	6796	1291	45	0	284	0	GRHPR	9	37425978	Frame_Shift_Del	DEL	G	TCGA-YB-A89D-01A-12D-A36O-08	4940730	37425978	103787453	199	38385											
CBWD6	644019	broad.mit.edu	37	chr9	69247573	69247573	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atcaacccaaaacatagaagCcactgcacgtgaaaatatat	5	10	1	2	rs200427376		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:69247573C>T	ENST00000377457.5	-	5	544	c.439G>A	c.(439-441)Gct>Act	p.A147T	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	147							ATP binding (GO:0005524)			lung(4)	4						AACATAGAAGCCACTGCACGT	0.269																																						ENST00000377457.5																			0				lung(4)	4						c.(439-441)Gct>Act		COBW domain containing 6							21	14	16					9																	69247573		1993	3596	5589	SO:0001583	missense	644019						ATP binding	g.chr9:69247573C>T		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.439G>A	9.37:g.69247573C>T	ENSP00000366677:p.Ala147Thr					CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Missense_Mutation_p.A111T	p.A147T	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN			5	544	-			147						Missense_Mutation	SNP	ENST00000377457.5	37	c.439G>A	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	14.66	2.601292	0.46423	.	.	ENSG00000204790	ENST00000377457;ENST00000377450;ENST00000377449;ENST00000377445;ENST00000536466	T;T	0.55588	0.51;0.51	2.63	2.63	0.31362	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.89353	3.025	0.80722	D	1	B	0.26635	0.155	B	0.34873	0.191	T	0.67814	-0.5573	10	0.62326	D	0.03	-29.0935	11.0291	0.47761	0.0:1.0:0.0:0.0	.	147	Q4V339	CBWD6_HUMAN	T	147;147;111;147;147	ENSP00000366677:A147T;ENSP00000366668:A111T	ENSP00000366664:A147T	A	-	1	0	CBWD6	68537393	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	6.849000	0.75414	1.484000	0.48361	0.184000	0.17185	GCT		0.269	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822		6	138	0	0	0	3.86212e-05	0	6	138					T	69247573	C	T	69247573	3	4	123	1	0	0	0	0	1	0	0	0	2723	739	26	2	792	2	CBWD6	9	69247573	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	31821595	69247573	71965858	200	38386											
AGTPBP1	23287	broad.mit.edu	37	chr9	88287535	88287535	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tgattctgcaaattctgcttGaccaaattcagggttatatt	7	7	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88287535G>T	ENST00000357081.3	-	7	642	c.498C>A	c.(496-498)gtC>gtA	p.V166V	AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000376080.1_Silent_p.V108V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000337006.4_Silent_p.V108V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	166					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATTCTGCTTGACCAAATTCA	0.348																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(496-498)gtC>gtA		ATP/GTP binding protein 1							98	99	99					9																	88287535		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88287535G>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.498C>A	9.37:g.88287535G>T						AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000337006.4_Silent_p.V108V|AGTPBP1_ENST00000376080.1_Silent_p.V108V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR	p.V166V			Q9UPW5	CBPC1_HUMAN			7	642	-			166					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.498C>A																																																																																					0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		15	912	1	0	1.49906e-05	1.49906e-05	0.00153956	15	912					T	88287535	G	T	88287535	2	4	123	1	0	0	0	0	0	0	0	1	400	1277	45	3		3	AGTPBP1	9	88287535	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	19039962	88287535	52925896	201	38387											
ZCCHC6	79670	broad.mit.edu	37	chr9	88953781	88953781	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaaaggaaccagctttGgttctagttttccaagggca	9	10	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88953781G>T	ENST00000375963.3	-	9	1464	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P431Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	431					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						AACCAGCTTTGGTTCTAGTTT	0.428																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1291-1293)cCa>cAa		zinc finger, CCHC domain containing 6							112	100	104					9																	88953781		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88953781G>T	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.1292C>A	9.37:g.88953781G>T	ENSP00000365130:p.Pro431Gln					ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P431Q|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q	p.P431Q			Q5VYS8	TUT7_HUMAN			9	1506	-			431					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1292C>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802284	0.90538	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.73681	-0.77;-0.77;-0.77	4.56	4.56	0.56223	.	0.117764	0.64402	D	0.000017	D	0.84451	0.5475	M	0.77712	2.385	0.51482	D	0.999928	P;P	0.51653	0.947;0.891	P;P	0.58331	0.837;0.617	D	0.86390	0.1735	10	0.59425	D	0.04	-16.5782	17.8715	0.88812	0.0:0.0:1.0:0.0	.	431;431	Q5VYS8-2;Q5VYS8	.;TUT7_HUMAN	Q	431;431;69	ENSP00000365128:P431Q;ENSP00000365130:P431Q;ENSP00000365115:P69Q	ENSP00000365115:P69Q	P	-	2	0	ZCCHC6	88143601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.788000	0.69020	2.520000	0.84964	0.655000	0.94253	CCA		0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		8	420	1	0	2.80697e-09	6.40141e-05	4.03593e-07	8	420					T	88953781	G	T	88953781	3	4	123	1	0	0	0	0	1	0	0	0	17645	1348	47	3	3271	3	ZCCHC6	9	88953781	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	666246	88953781	52259650	202	38388											
NFIL3	4783	broad.mit.edu	37	chr9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-													agcttcattatttttccgccTtttttcccaatacatagcat							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214	216	215					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		9	1316						9	1316	---	---	---	---	-	94172779	T	-	94172779	7	5	123	1	0	1	0	1	0	0	0	0	10415	1608	56	0	1154	0	NFIL3	9	94172779	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	5218998	94172779	47040652	203	38389											
ASPN	54829	broad.mit.edu	37	chr9	95232987	95232987	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cctttaaaatcattttctttGatttccttaattttattgtt	2	6	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:95232987G>T	ENST00000375544.3	-	3	594	c.351C>A	c.(349-351)atC>atA	p.I117I	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Silent_p.I117I|ASPN_ENST00000375543.1_Silent_p.I117I	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	117					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						CATTTTCTTTGATTTCCTTAA	0.289																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(349-351)atC>atA		asporin							79	83	81					9																	95232987		2202	4289	6491	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95232987G>T	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.351C>A	9.37:g.95232987G>T						ASPN_ENST00000375543.1_Silent_p.I117I|ASPN_ENST00000395538.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron	p.I117I	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN			3	594	-			117					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.351C>A																																																																																					0.289	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		14	540	1	0	1.49906e-05	1.49906e-05	0.00153956	14	540					T	95232987	G	T	95232987	2	4	123	1	0	0	0	0	0	0	0	1	1058	1280	45	3		3	ASPN	9	95232987	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1060208	95232987	45980444	204	38390											
ZNF462	58499	broad.mit.edu	37	chr9	109688806	109688806	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atgcacccatacattaaattCagctttaggtacatcttgga	6	9	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:109688806C>A	ENST00000277225.5	+	3	2902	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	871					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						ACATTAAATTCAGCTTTAGGT	0.443																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2611-2613)ttC>ttA		zinc finger protein 462							169	151	157					9																	109688806		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688806C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2613C>A	9.37:g.109688806C>A	ENSP00000277225:p.Phe871Leu					ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L	p.F871L			Q96JM2	ZN462_HUMAN			3	2902	+			871					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2613C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443804	0.63067	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.11385	2.78;3.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.74674	0.984;0.956	T	0.33445	-0.9868	9	.	.	.	.	13.2624	0.60113	0.0:0.9279:0.0:0.072	.	871;871	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	871	ENSP00000277225:F871L;ENSP00000414570:F871L	.	F	+	3	2	ZNF462	108728627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.731000	0.93534	0.650000	0.86243	TTC		0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		19	845	1	0	1.49906e-05	1.49906e-05	0.00153956	19	845					A	109688806	C	A	109688806	3	1	123	1	0	0	0	0	1	0	0	0	17979	825	29	3	2619	3	ZNF462	9	109688806	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	14455819	109688806	31524625	205	38391											
RAB14	51552	broad.mit.edu	37	chr9	123949238	123949238	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ccatttaacttacagtatttGgattggtgagattccttgca	8	7	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:123949238G>T	ENST00000373840.4	-	5	581	c.344C>A	c.(343-345)cCa>cAa	p.P115Q		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	115					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TACAGTATTTGGATTGGTGAG	0.338																																						ENST00000373840.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(343-345)cCa>cAa		RAB14, member RAS oncogene family							106	101	103					9																	123949238		2203	4298	6501	SO:0001583	missense	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123949238G>T	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"RAB, member RAS oncogene"	16524	protein-coding gene	gene with protein product	"F protein-binding protein 1", "bA165P4.3 (member RAS oncogene family)", "small GTP binding protein RAB14"	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.344C>A	9.37:g.123949238G>T	ENSP00000362946:p.Pro115Gln						p.P115Q	NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN			5	581	-			115					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	ENST00000373840.4	37	c.344C>A	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688945	0.88735	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	T;T	0.75704	-0.96;-0.96	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74774	-0.3551	10	0.24483	T	0.36	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	115	P61106	RAB14_HUMAN	Q	115	ENSP00000362946:P115Q;ENSP00000400107:P115Q	ENSP00000362946:P115Q	P	-	2	0	RAB14	122989059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.737000	0.98831	2.880000	0.98712	0.650000	0.86243	CCA		0.338	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	NM_016322		8	461	1	0	2.17888e-05	2.17888e-05	0.00213033	8	461					T	123949238	G	T	123949238	3	4	123	1	0	0	0	0	1	0	0	0	12950	1348	47	3	319	3	RAB14	9	123949238	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14260432	123949238	17264193	206	38392											
FAM125B	89853	broad.mit.edu	37	chr9	129154466	129154466	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caggccccgcctcagtacacGtttattgggtgagtcttaat	10	11	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:129154466G>A	ENST00000361171.3	+	5	612	c.531G>A	c.(529-531)acG>acA	p.T177T	MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000436593.3_Silent_p.T162T|MVB12B_ENST00000545391.1_Silent_p.T177T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	177	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCAGTACACGTTTATTGGGT	0.512																																						ENST00000361171.3																			0											c.(529-531)acG>acA		multivesicular body subunit 12B							86	90	89					9																	129154466		2203	4300	6503	SO:0001819	synonymous_variant	89853							g.chr9:129154466G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 28", "family with sequence similarity 125, member B"	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.531G>A	9.37:g.129154466G>A						MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000545391.1_Silent_p.T177T|MVB12B_ENST00000436593.3_Silent_p.T162T	p.T177T	NM_033446.2	NP_258257.1					5	612	+								Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.531G>A	CCDS35142.1																																																																																				0.512	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	XM_088525		10	503	0	0	0	0.00010058	0	10	503					A	129154466	G	A	129154466	2	1	123	1	0	0	0	0	0	0	0	1	5449	1132	40	1		1	FAM125B	9	129154466	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5205228	129154466	12058965	207	38393											
PFKP	5214	broad.mit.edu	37	chr10	3149495	3149495	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cccatcacctctgagaaaatCaaagaggtgagtgtgtgtag	11	8	3	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:3149495C>A	ENST00000381125.4	+	8	940	c.864C>A	c.(862-864)atC>atA	p.I288I	PFKP_ENST00000381075.2_Silent_p.I280I	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	288	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGAGAAAATCAAAGAGGTGA	0.458																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(838-840)atC>atA		phosphofructokinase, platelet							64	64	64					10																	3149495		2199	4300	6499	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3149495C>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.864C>A	10.37:g.3149495C>A						PFKP_ENST00000381125.4_Silent_p.I288I	p.I280I	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	10	1064	+			288					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.840C>A	CCDS7059.1																																																																																				0.458	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		10	400	1	0	1.58986e-06	3.86212e-05	0.000199287	10	400					A	3149495	C	A	3149495	2	1	123	1	0	0	0	0	0	0	0	1	11808	816	29	3		3	PFKP	10	3149495	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		3149495	132385252	208	38394											
C10orf18	54906	broad.mit.edu	37	chr10	5789164	5789164	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcgtttgattcagtatttatCaaacaaacaagcctgtctgt	7	8	3	1	rs199707358		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:5789164C>A	ENST00000328090.5	+	15	4405	c.3780C>A	c.(3778-3780)atC>atA	p.I1260I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1260																	CAGTATTTATCAAACAAACAA	0.393																																						ENST00000328090.5																			0											c.(3778-3780)atC>atA		family with sequence similarity 208, member B							69	72	71					10																	5789164		1881	4115	5996	SO:0001819	synonymous_variant	54906							g.chr10:5789164C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3780C>A	10.37:g.5789164C>A							p.I1260I	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			15	4405	+			1260					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3780C>A	CCDS41485.1																																																																																				0.393	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		14	513	1	0	4.35082e-09	1.64113e-05	6.21912e-07	14	513					A	5789164	C	A	5789164	2	1	123	1	0	0	0	0	0	0	0	1	1601	816	29	3		3	C10orf18	10	5789164	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2639669	5789164	129745583	209	38395											
ITIH5	80760	broad.mit.edu	37	chr10	7621857	7621857	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagacttggcctcgggCggcctctcgggtgttgttga	16	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:7621857C>T	ENST00000256861.6	-	9	1357	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A427S(1)		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						TGGCCTCGGGCGGCCTCTCGG	0.617																																						ENST00000256861.6																			1	Substitution - Missense(1)	p.A427S(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1279-1281)Gcc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 5							136	123	128					10																	7621857		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621857C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1279G>A	10.37:g.7621857C>T	ENSP00000256861:p.Ala427Thr					ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T	p.A427T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			9	1357	-			427			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1279G>A		.	.	.	.	.	.	.	.	.	.	C	6.771	0.511196	0.12883	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.2	1.74	0.24563	von Willebrand factor, type A (3);	0.388819	0.30979	N	0.008484	T	0.63896	0.2550	.	.	.	0.09310	N	1	B;B;B	0.25563	0.129;0.056;0.046	B;B;B	0.17433	0.018;0.01;0.006	T	0.52275	-0.8597	9	0.42905	T	0.14	-17.5123	8.1036	0.30872	0.0:0.4401:0.0:0.5599	.	427;427;213	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	427;427;213;209;427	ENSP00000256861:A427T;ENSP00000380333:A427T;ENSP00000298441:A213T;ENSP00000387969:A209T;ENSP00000380332:A427T	ENSP00000256861:A427T	A	-	1	0	ITIH5	7661863	0.733000	0.28132	0.002000	0.10522	0.111000	0.19643	1.263000	0.33004	0.052000	0.16007	0.462000	0.41574	GCC		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		6	299	0	0	0	1.12685e-05	0	6	299					T	7621857	C	T	7621857	3	4	123	1	0	0	0	0	1	0	0	0	7937	768	27	1	1696	1	ITIH5	10	7621857	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1832693	7621857	127912890	210	38396											
KIF5B	3799	broad.mit.edu	37	chr10	32323665	32323665	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	caagccactgaatagtgttcCgcaggatcttatttttttct	7	9	2	1	rs141896420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:32323665C>A	ENST00000302418.4	-	11	1521	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	355					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)				AATAGTGTTCCGCAGGATCTT	0.338			T	"RET, ALK"	NSCLC																																	ENST00000302418.4				Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"RET, ALK"		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1063-1065)cGg>cTg		kinesin family member 5B							66	63	64					10																	32323665		2203	4299	6502	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32323665C>A	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.1064G>T	10.37:g.32323665C>A	ENSP00000307078:p.Arg355Leu						p.R355L	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN			11	1521	-		Prostate(175;0.0137)	355					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1064G>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853165	0.51270	.	.	ENSG00000170759	ENST00000302418	D	0.87809	-2.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	L	0.44542	1.39	0.45403	D	0.998389	B	0.23854	0.092	B	0.23852	0.049	T	0.79327	-0.1849	10	0.28530	T	0.3	.	18.8538	0.92242	0.0:1.0:0.0:0.0	.	355	P33176	KINH_HUMAN	L	355	ENSP00000307078:R355L	ENSP00000307078:R355L	R	-	2	0	KIF5B	32363671	0.978000	0.34361	1.000000	0.80357	0.957000	0.61999	2.608000	0.46308	2.435000	0.82474	0.563000	0.77884	CGG		0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		7	523	1	0	8.12818e-05	8.12818e-05	0.00618932	7	523					A	32323665	C	A	32323665	3	1	123	1	0	0	0	0	1	0	0	0	8336	652	23	3	1887	3	KIF5B	10	32323665	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	24701808	32323665	103211082	211	38397											
ERCC6	2074	broad.mit.edu	37	chr10	50678238	50678238	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aatggattacctgattttttGaaaagcttttccaaaacata	5	6	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:50678238G>T	ENST00000355832.5	-	18	3846	c.3768C>A	c.(3766-3768)ttC>ttA	p.F1256L	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1256					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						CTGATTTTTTGAAAAGCTTTT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3766-3768)ttC>ttA	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							234	225	228					10																	50678238		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678238G>T	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.3768C>A	10.37:g.50678238G>T	ENSP00000348089:p.Phe1256Leu					ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|RP11-123B3.2_ENST00000423283.1_RNA	p.F1256L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			18	3846	-			1256					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3768C>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770035	0.69992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.90563	-2.69;-2.32	5.56	3.72	0.42706	.	.	.	.	.	D	0.94135	0.8119	M	0.75777	2.31	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92906	0.6343	9	0.44086	T	0.13	-17.9643	12.137	0.53977	0.1394:0.0:0.8606:0.0	.	1256;633	Q03468;Q59FF6	ERCC6_HUMAN;.	L	1256;633;626	ENSP00000348089:F1256L;ENSP00000445134:F626L	ENSP00000348089:F1256L	F	-	3	2	ERCC6	50348244	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.737000	0.62066	0.723000	0.32274	-0.229000	0.12294	TTC		0.418	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		14	784	1	0	3.45872e-05	3.45872e-05	0.0032145	14	784					T	50678238	G	T	50678238	3	4	123	1	0	0	0	0	1	0	0	0	5235	1281	45	3	729	3	ERCC6	10	50678238	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	18354573	50678238	84856509	212	38398											
ANK3	288	broad.mit.edu	37	chr10	61828647	61828647	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	actaattcccttaaaatattCaatggaatgtttacatactt	3	7	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:61828647C>A	ENST00000280772.2	-	37	12183	c.11992G>T	c.(11992-11994)Gaa>Taa	p.E3998*	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)	3998					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						TTAAAATATTCAATGGAATGT	0.453																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11992-11994)Gaa>Taa		ankyrin 3, node of Ranvier (ankyrin G)							108	105	106					10																	61828647		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828647C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11992G>T	10.37:g.61828647C>A	ENSP00000280772:p.Glu3998*					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.E3998*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12183	-			3998					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.11992G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	54	21.771729	0.99943	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.72	5.72	0.89469	.	0.000000	0.43416	D	0.000568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	3998	.	ENSP00000280772:E3998X	E	-	1	0	ANK3	61498653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.864000	0.62990	2.711000	0.92665	0.655000	0.94253	GAA		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		10	770	1	0	0.000151284	0.000151284	0.00973904	10	770					A	61828647	C	A	61828647	4	1	123	1	0	0	0	0	0	1	0	0	622	835	29	3	1482	3	ANK3	10	61828647	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11150409	61828647	73706100	213	38399											
ANK3	288	broad.mit.edu	37	chr10	61941116	61941116	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtccacatgagccccttGgtttacgaggacttctgcca	11	13	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr10:61941116G>T	ENST00000280772.2	-	18	2346	c.2155C>A	c.(2155-2157)Caa>Aaa	p.Q719K	ANK3_ENST00000373827.2_Missense_Mutation_p.Q713K|ANK3_ENST00000503366.1_Missense_Mutation_p.Q702K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	719					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						TGAGCCCCTTGGTTTACGAGG	0.507																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(2155-2157)Caa>Aaa		ankyrin 3, node of Ranvier (ankyrin G)							192	171	178					10																	61941116		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61941116G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2155C>A	10.37:g.61941116G>T	ENSP00000280772:p.Gln719Lys					ANK3_ENST00000373827.2_Missense_Mutation_p.Q713K|ANK3_ENST00000503366.1_Missense_Mutation_p.Q702K	p.Q719K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			18	2346	-			719					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2155C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843914	0.71488	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.63255	-0.03;-0.03;-0.03	5.97	5.97	0.96955	Ankyrin repeat-containing domain (4);	0.000000	0.40222	N	0.001142	T	0.51024	0.1650	N	0.03281	-0.365	0.80722	D	1	B;B;P;B;P	0.48162	0.001;0.068;0.673;0.367;0.906	B;B;B;B;P	0.47603	0.007;0.145;0.42;0.216;0.551	T	0.63233	-0.6683	10	0.72032	D	0.01	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	702;380;263;713;719	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	K	719;713;702;681;380;375;263	ENSP00000280772:Q719K;ENSP00000362933:Q713K;ENSP00000425236:Q702K	ENSP00000280772:Q719K	Q	-	1	0	ANK3	61611122	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.660000	0.74417	2.828000	0.97474	0.655000	0.94253	CAA		0.507	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		8	757	1	0	2.17888e-05	2.17888e-05	0.002749	8	757					T	61941116	G	T	61941116	3	4	123	1	0	0	0	0	1	0	0	0	622	1357	47	3	11415	3	ANK3	10	61941116	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	112469	61941116	73593631	214	38400											
DDX50	79009	broad.mit.edu	37	chr10	70666692	70666693	+	Frame_Shift_Ins	INS	-	-	A													tggagatatagatgaatatgINSaaaaaaaatcaaagcgagta							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:70666692_70666693insA	ENST00000373585.3	+	2	420_421	c.313_314insA	c.(313-315)gaafs	p.E105fs		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	105						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						AGATGAATATGAAAAAAAATCA	0.307																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(313-315)aaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50																																				SO:0001589	frameshift_variant	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70666692_70666693insA	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.321dupA	10.37:g.70666700_70666700dupA	ENSP00000362687:p.Glu105fs						p.K105fs	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			2	420_421	+			105					Q5VX37|Q8WV76|Q9BWI8	Frame_Shift_Ins	INS	ENST00000373585.3	37	c.313_314insA	CCDS7283.1																																																																																				0.307	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		7	889						7	889	---	---	---	---	A	70666693	-	A	70666692	7	5	123	1	0	1	1	0	0	0	0	0	4379	1291	45	0	319	0	DDX50	10	70666692	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	8725576	70666692	64868055	215	38401											
CCDC109A	90550	broad.mit.edu	37	chr10	74451955	74451956	+	In_Frame_Ins	INS	-	-	GGGGCG													cctgctgctcctctcctctcINSggggcggcggcggcgggggc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:74451955_74451956insGGGGCG	ENST00000373053.3	+	1	67_68	c.46_47insGGGGCG	c.(46-48)cgg>cGGGGCGgg	p.22_23insGG	MCU_ENST00000357157.6_In_Frame_Ins_p.22_23insGG|MCU_ENST00000536019.1_5'Flank	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	22					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CCTCTCCTCTCGGggcggcggc	0.767																																						ENST00000373053.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(46-48)ggg>GGGGCGggg		mitochondrial calcium uniporter				14,2726		6,2,1362						4.4	1			3	64,6098		13,38,3030	no	coding	MCU	NM_138357.1		19,40,4392	A1A1,A1R,RR		1.0386,0.5109,0.8762				78,8824				SO:0001652	inframe_insertion	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74451955_74451956insGGGGCG	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"coiled-coil domain containing 109A"	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.47_52dupGGGGCG	10.37:g.74451956_74451961dupGGGGCG	ENSP00000362144:p.Gly24_Gly25dup					MCU_ENST00000357157.6_In_Frame_Ins_p.16_16G>GAG	p.16_16G>GAG	NM_138357.1	NP_612366.1	Q8NE86	MCU_HUMAN			1	67_68	+			16					B2RDF3|B3KXV7|Q96FL3	In_Frame_Ins	INS	ENST00000373053.3	37	c.46_47insGGGGCG	CCDS7317.1																																																																																				0.767	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		24	55						24	55	---	---	---	---	GGGGCG	74451956	-	GGGGCG	74451955	7	5	123	1	0	1	1	0	0	0	0	0	2751	875	31	0	48	0	CCDC109A	10	74451955	In_Frame_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	3785263	74451955	61082792	216	38402											
KIF20B	9585	broad.mit.edu	37	chr10	91483759	91483759	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gaagacttgaaaaaaaaactGataaatgaaaaaaaggaaaa	7	2	0	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:91483759G>T	ENST00000371728.3	+	14	1826	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	KIF20B_ENST00000260753.4_Silent_p.L587L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000416354.1_Silent_p.L587L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	587					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						AAAAAAAACTGATAAATGAAA	0.289																																						ENST00000416354.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1759-1761)ctG>ctT		kinesin family member 20B							40	48	45					10																	91483759		2179	4288	6467	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91483759G>T	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.1761G>T	10.37:g.91483759G>T						KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.L587L|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000260753.4_Silent_p.L587L	p.L587L			Q96Q89	KI20B_HUMAN			14	1833	+			587					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1761G>T																																																																																					0.289	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		10	486	1	0	2.27111e-07	0.00010058	3.11869e-05	10	486					T	91483759	G	T	91483759	2	4	123	1	0	0	0	0	0	0	0	1	8317	1277	45	3		3	KIF20B	10	91483759	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17031804	91483759	44050988	217	38403											
IDE	3416	broad.mit.edu	37	chr10	94223733	94223733	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agccctgtatgccattagctCgacgtggcccgctgaagacg	12	13	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:94223733C>A	ENST00000265986.6	-	21	2572	c.2516G>T	c.(2515-2517)cGa>cTa	p.R839L	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	839					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)"	GCCATTAGCTCGACGTGGCCC	0.453																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2515-2517)cGa>cTa		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						201	198	199					10																	94223733		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94223733C>A	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.2516G>T	10.37:g.94223733C>A	ENSP00000265986:p.Arg839Leu					IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	p.R839L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			21	2572	-			839					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.2516G>T	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962777	0.92791	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.07327	3.2;3.2	5.61	5.61	0.85477	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000001	T	0.19327	0.0464	L	0.54863	1.705	0.80722	D	1	D;D	0.59767	0.978;0.986	P;P	0.58172	0.792;0.834	T	0.03863	-1.0997	10	0.07990	T	0.79	-8.6533	20.0016	0.97412	0.0:1.0:0.0:0.0	.	839;284	P14735;B3KSB8	IDE_HUMAN;.	L	839;284	ENSP00000265986:R839L;ENSP00000360637:R284L	ENSP00000265986:R839L	R	-	2	0	IDE	94213713	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.545000	0.82128	2.802000	0.96397	0.655000	0.94253	CGA		0.453	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		10	1049	1	0	6.40141e-05	6.40141e-05	0.00496729	10	1049					A	94223733	C	A	94223733	3	1	123	1	0	0	0	0	1	0	0	0	7523	884	31	3	563	3	IDE	10	94223733	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2739974	94223733	41311014	218	38404											
ADD3	120	broad.mit.edu	37	chr10	111885676	111885676	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gttcctttaaacacaaacccGaatgaggtactagaaaagag	8	8	0	3	rs138443686		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:111885676G>T	ENST00000356080.4	+	11	1861	c.1494G>T	c.(1492-1494)ccG>ccT	p.P498P	ADD3_ENST00000277900.8_Silent_p.P498P|ADD3_ENST00000360162.3_Silent_p.P498P	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	498						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACACAAACCCGAATGAGGTAC	0.358																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1492-1494)ccG>ccT		adducin 3 (gamma)							95	97	96					10																	111885676		2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111885676G>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1494G>T	10.37:g.111885676G>T						ADD3_ENST00000360162.3_Silent_p.P498P|ADD3_ENST00000356080.4_Silent_p.P498P	p.P498P	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	11	1859	+		Breast(234;0.052)|Lung NSC(174;0.223)	498					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.1494G>T	CCDS7561.1																																																																																				0.358	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		8	547	1	0	0.000157383	0.000157383	0.00973904	8	547					T	111885676	G	T	111885676	2	4	123	1	0	0	0	0	0	0	0	1	306	1045	37	3		3	ADD3	10	111885676	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17661943	111885676	23649071	219	38405											
SFXN4	119559	broad.mit.edu	37	chr10	120923683	120923683	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	taggatctaataattctgtcCattgaagaaatcgtcgaata	7	6	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:120923683C>A	ENST00000355697.2	-	2	156	c.137G>T	c.(136-138)tGg>tTg	p.W46L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	46					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAATTCTGTCCATTGAAGAAA	0.323																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(136-138)tGg>tTg		sideroflexin 4							83	91	88					10																	120923683		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120923683C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.137G>T	10.37:g.120923683C>A	ENSP00000347924:p.Trp46Leu					SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L	p.W46L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	2	156	-		Lung NSC(174;0.094)|all_lung(145;0.123)	46					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.137G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056769	0.36277	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.27402	1.67;1.67	4.29	4.29	0.51040	.	0.151299	0.47852	D	0.000202	T	0.30696	0.0773	M	0.65498	2.005	0.46149	D	0.99889	P	0.35793	0.521	B	0.31245	0.126	T	0.26189	-1.0110	10	0.62326	D	0.03	-4.1067	12.1773	0.54192	0.0:1.0:0.0:0.0	.	46	Q6P4A7	SFXN4_HUMAN	L	46	ENSP00000347924:W46L;ENSP00000333200:W46L	ENSP00000333200:W46L	W	-	2	0	SFXN4	120913673	1.000000	0.71417	0.989000	0.46669	0.573000	0.36030	3.338000	0.52128	2.239000	0.73571	0.449000	0.29647	TGG		0.323	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		10	990	1	0	3.86212e-05	3.86212e-05	0.00332401	10	990					A	120923683	C	A	120923683	3	1	123	1	0	0	0	0	1	0	0	0	14247	595	21	3	928	3	SFXN4	10	120923683	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9038007	120923683	14611064	220	38406											
TACC2	10579	broad.mit.edu	37	chr10	123976332	123976332	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aaacgagaccaaattcagttCacccactgagggtaagcaac	8	11	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:123976332C>A	ENST00000369005.1	+	11	7875	c.7535C>A	c.(7534-7536)tCa>tAa	p.S2512*	TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2512					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)				AAATTCAGTTCACCCACTGAG	0.562																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7534-7536)tCa>tAa		transforming, acidic coiled-coil containing protein 2							133	112	119					10																	123976332		2203	4300	6503	SO:0001587	stop_gained	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123976332C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7535C>A	10.37:g.123976332C>A	ENSP00000358001:p.Ser2512*					TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*	p.S2512*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			11	7875	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2512					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Nonsense_Mutation	SNP	ENST00000369005.1	37	c.7535C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	41	8.660008	0.98903	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	.	.	.	5.64	5.64	0.86602	.	0.000000	0.30356	N	0.009802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0877	19.7186	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	2512;658;2516;2467;2512;658;2516;2502;216;212;590;602;602;590;607;247;92	.	ENSP00000260733:S590X	S	+	2	0	TACC2	123966322	1.000000	0.71417	0.273000	0.24645	0.801000	0.45260	4.972000	0.63756	2.659000	0.90383	0.655000	0.94253	TCA		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			11	429	1	0	0.00010058	0.00010058	0.0072096	11	429					A	123976332	C	A	123976332	4	1	123	1	0	0	0	0	0	1	0	0	15554	838	29	3	7645	3	TACC2	10	123976332	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3052649	123976332	11558415	221	38407											
MKI67	4288	broad.mit.edu	37	chr10	129904176	129904176	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gatttgcaggatacttctgtGattttgtcatcggtcattga	10	6	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:129904176G>T	ENST00000368654.3	-	13	6303	c.5928C>A	c.(5926-5928)atC>atA	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	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)				ATACTTCTGTGATTTTGTCAT	0.473																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(5926-5928)atC>atA		marker of proliferation Ki-67							193	198	196					10																	129904176		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904176G>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5928C>A	10.37:g.129904176G>T						MKI67_ENST00000368653.3_Silent_p.I1616I	p.I1976I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	6303	-		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)	1976			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.5928C>A	CCDS7659.1																																																																																				0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		16	1122	1	0	3.07112e-06	6.40141e-05	0.00037162	16	1122					T	129904176	G	T	129904176	2	4	123	1	0	0	0	0	0	0	0	1	9639	1280	45	3		3	MKI67	10	129904176	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5927844	129904176	5630571	222	38408											
ZNF195	7748	broad.mit.edu	37	chr11	3380678	3380678	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cattcgtcacatttgtagggCttctctccagtatgggtttt	9	9	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:3380678C>T	ENST00000399602.4	-	6	1686	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000354599.6_Silent_p.K448K	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	520					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)		ATTTGTAGGGCTTCTCTCCAG	0.403																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1342-1344)aaG>aaA		zinc finger protein 195							168	171	170					11																	3380678		2064	4218	6282	SO:0001819	synonymous_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380678C>T		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.1560G>A	11.37:g.3380678C>T						ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K	p.K448K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1448	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	520					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1344G>A	CCDS44522.1																																																																																				0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			7	905	0	0	0	5.18039e-06	0	7	905					T	3380678	C	T	3380678	2	4	123	1	0	0	0	0	0	0	0	1	17811	796	28	2		2	ZNF195	11	3380678	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		3380678	131625838	223	38409											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636809	18636809	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agattttttggctttgtgctCaacagcagatttctgagtcc	9	8	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:18636809C>A	ENST00000336349.5	-	3	1247	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	338	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCTTTGTGCTCAACAGCAGAT	0.512																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1012-1014)Gag>Tag		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							117	130	126					11																	18636809		2199	4293	6492	SO:0001587	stop_gained	144108							g.chr11:18636809C>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1012G>T	11.37:g.18636809C>A	ENSP00000337991:p.Glu338*						p.E338*	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1247	-			338			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	ENST00000336349.5	37	c.1012G>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326405	0.95708	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.84	5.84	0.93424	.	0.272640	0.36815	N	0.002396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-18.4727	18.3021	0.90167	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000337991:E338X	E	-	1	0	SPTY2D1	18593385	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.734000	0.47368	2.762000	0.94881	0.563000	0.77884	GAG		0.512	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		17	805	1	0	5.3912e-06	7.07596e-05	0.000617672	17	805					A	18636809	C	A	18636809	4	1	123	1	0	0	0	0	0	1	0	0	15178	835	29	3	1061	3	SPTY2D1	11	18636809	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	15256131	18636809	116369707	224	38410											
ANO3	63982	broad.mit.edu	37	chr11	26556101	26556101	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaatatgaaaatggaatatCaaaagtgggtaagaacatta	8	3	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:26556101C>A	ENST00000256737.3	+	9	1820	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323					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						AATGGAATATCAAAAGTGGGT	0.318																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(967-969)tCa>tAa		anoctamin 3							78	78	78					11																	26556101		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26556101C>A	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.968C>A	11.37:g.26556101C>A	ENSP00000256737:p.Ser323*					ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*	p.S323*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			9	1820	+			323					B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.968C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.882011	0.98542	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.03	5.03	0.67393	.	0.390504	0.26959	N	0.021623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.9596	0.89081	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;323;225;177	.	ENSP00000256737:S323X	S	+	2	0	ANO3	26512677	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.640000	0.61368	2.349000	0.79799	0.460000	0.39030	TCA		0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		10	506	1	0	3.86212e-05	3.86212e-05	0.00332401	10	506					A	26556101	C	A	26556101	4	1	123	1	0	0	0	0	0	1	0	0	698	838	29	3	1002	3	ANO3	11	26556101	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	7919292	26556101	108450415	225	38411											
CKAP5	9793	broad.mit.edu	37	chr11	46831366	46831366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cttgttgggaacgaagaaatCgagtaggtctaggagcactt	13	6	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:46831366C>A	ENST00000529230.1	-	6	735	c.689G>T	c.(688-690)cGa>cTa	p.R230L	CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	230					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						ACGAAGAAATCGAGTAGGTCT	0.393																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				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						c.(688-690)cGa>cTa		cytoskeleton associated protein 5							173	163	166					11																	46831366		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46831366C>A		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.689G>T	11.37:g.46831366C>A	ENSP00000432768:p.Arg230Leu					CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L|CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L	p.R230L			Q14008	CKAP5_HUMAN			6	735	-			230					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.689G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149258	0.94645	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.86805	2.84	0.80722	D	1	D;B;D	0.76494	0.992;0.288;0.999	D;B;D	0.80764	0.979;0.186;0.994	T	0.78481	-0.2187	10	0.87932	D	0	-18.8626	19.9844	0.97341	0.0:1.0:0.0:0.0	.	230;230;230	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	230	ENSP00000432768:R230L;ENSP00000395302:R230L;ENSP00000310227:R230L;ENSP00000346566:R230L	ENSP00000310227:R230L	R	-	2	0	CKAP5	46787942	1.000000	0.71417	0.194000	0.23346	0.820000	0.46376	7.397000	0.79903	2.724000	0.93272	0.650000	0.86243	CGA		0.393	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		10	845	1	0	0.00010058	0.00010058	0.0072096	10	845					A	46831366	C	A	46831366	3	1	123	1	0	0	0	0	1	0	0	0	3454	884	31	3	5565	3	CKAP5	11	46831366	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	20275265	46831366	88175150	226	38412											
AHNAK	79026	broad.mit.edu	37	chr11	62292931	62292931	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ttgaggtcaccttccactttGggcagagaaatatccacatc	8	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:62292931G>T	ENST00000378024.4	-	5	9232	c.8958C>A	c.(8956-8958)ccC>ccA	p.P2986P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2986					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)				CTTCCACTTTGGGCAGAGAAA	0.537																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8956-8958)ccC>ccA		AHNAK nucleoprotein							141	150	147					11																	62292931		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292931G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8958C>A	11.37:g.62292931G>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2986P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9232	-		Melanoma(852;0.155)	2986					A1A586	Silent	SNP	ENST00000378024.4	37	c.8958C>A	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	1232	1	0	6.40141e-05	6.40141e-05	0.00496729	12	1232					T	62292931	G	T	62292931	2	4	123	1	0	0	0	0	0	0	0	1	414	1335	47	3		3	AHNAK	11	62292931	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	15461565	62292931	72713585	227	38413											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238436	71238436	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctctggctgtgggggAtgtggctccagctgctgtgt	18	8	1	0	rs572895813		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:71238436A>C	ENST00000398536.4	+	1	124	c.90A>C	c.(88-90)ggA>ggC	p.G30G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	30						keratin filament (GO:0045095)		p.G30G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGATGTGGCTCCA	0.677													a|||	1	0.000199681	0.0	0.0	5008	,	,		10691	0.0		0.0	False		,,,				2504	0.001					ENST00000398536.4																			1	Substitution - coding silent(1)	p.G30G(1)	kidney(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(88-90)ggA>ggC		keratin associated protein 5-7							69	89	82					11																	71238436		2200	4291	6491	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238436A>C	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.90A>C	11.37:g.71238436A>C							p.G30G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	124	+			30					B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.90A>C	CCDS41682.1																																																																																				0.677	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	936	0	0	0	0.00010058	0	8	936					C	71238436	A	C	71238436	2	2	123	1	0	0	0	0	0	0	0	1	8597	320	12	4		4	KRTAP5-7	11	71238436	Silent	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	8945505	71238436	63768080	228	38414											
CTSC	1075	broad.mit.edu	37	chr11	88029368	88029368	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctgagaattgttggtTagtatacggattctcgcttc	13	6	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:88029368T>C	ENST00000227266.5	-	6	936	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	274					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGTTGGTTAGTATACGGA	0.448																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(820-822)ctA>ctG		cathepsin C							142	137	138					11																	88029368		2201	4299	6500	SO:0001819	synonymous_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88029368T>C	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"Cathepsins"	2528	protein-coding gene	gene with protein product	"dipeptidyl peptidase 1"	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.822A>G	11.37:g.88029368T>C							p.L274L	NM_001814.4	NP_001805.3	P53634	CATC_HUMAN			6	936	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	274					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	c.822A>G	CCDS8282.1																																																																																				0.448	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		47	415	0	0	0	0.000147903	0	47	415					C	88029368	T	C	88029368	2	2	123	1	0	0	0	0	0	0	0	1	4042	1741	61	4		4	CTSC	11	88029368	Silent	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	16790932	88029368	46977148	229	38415											
MRE11A	4361	broad.mit.edu	37	chr11	94153333	94153335	+	In_Frame_Del	DEL	ATC	ATC	-													gaactagtgttcataaaaggAtcatcatcatcatcctgaaa							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:94153333_94153335delATC	ENST00000323929.3	-	20	2305_2307	c.2083_2085delGAT	c.(2083-2085)gatdel	p.D695del	MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del	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																													ENST00000323929.3																			0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(2083-2085)del	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)																																				SO:0001651	inframe_deletion	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94153333_94153335delATC	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					MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del	p.D695del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN			20	2305_2307	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	695					O43475	In_Frame_Del	DEL	ENST00000323929.3	37	c.2083_2085delGAT	CCDS8299.1																																																																																				0.325	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591		8	709						8	709	---	---	---	---	-	94153335	ATC	-	94153333	7	5	123	1	0	1	0	1	0	0	0	0	9800	330	12	0	45	0	MRE11A	11	94153333	In_Frame_Del	DEL	ATC	TCGA-YB-A89D-01A-12D-A36O-08	6123965	94153333	40853183	230	38416											
PGR	5241	broad.mit.edu	37	chr11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtaggatctccatcctagacCaaacaccattaagctcatcc	5	14	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000534013.1_Missense_Mutation_p.G168C|PGR_ENST00000263463.5_Missense_Mutation_p.G660C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	762	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)	CATCCTAGACCAAACACCATT	0.348																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2284-2286)Ggt>Tgt		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						119	117	118					11																	100922228		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100922228C>A	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.2284G>T	11.37:g.100922228C>A	ENSP00000325120:p.Gly762Cys					PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	p.G762C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	5	3737	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	762			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2284G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616469	0.66672	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96619	-4.07;-4.07;-4.07	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.119765	0.56097	D	0.000031	D	0.98052	0.9358	M	0.77406	2.37	0.27257	N	0.95872	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.969	D	0.94318	0.7551	10	0.66056	D	0.02	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	660;762;143	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	762;168;660;660	ENSP00000325120:G762C;ENSP00000436561:G168C;ENSP00000263463:G660C	ENSP00000263463:G660C	G	-	1	0	PGR	100427438	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.049000	0.57397	2.435000	0.82474	0.650000	0.86243	GGT		0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			8	859	1	0	3.86212e-05	3.86212e-05	0.00332401	8	859					A	100922228	C	A	100922228	3	1	123	1	0	0	0	0	1	0	0	0	11847	594	21	3	533	3	PGR	11	100922228	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6768895	100922228	34084288	231	38417											
EXPH5	23086	broad.mit.edu	37	chr11	108381503	108381503	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tttactaggtcatccaagttGgttttatttttgtttccttc	6	7	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:108381503G>T	ENST00000265843.4	-	6	4841	c.4731C>A	c.(4729-4731)acC>acA	p.T1577T	EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000428840.1_Silent_p.T1501T|EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1577					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAAGTTGGTTTTATTTT	0.418																																						ENST00000265843.4																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4729-4731)acC>acA		exophilin 5							165	154	158					11																	108381503		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381503G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4731C>A	11.37:g.108381503G>T						EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000428840.1_Silent_p.T1501T	p.T1577T	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4841	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1577					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4731C>A	CCDS8341.1																																																																																				0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		10	841	1	0	6.40141e-05	6.40141e-05	0.00496729	10	841					T	108381503	G	T	108381503	2	4	123	1	0	0	0	0	0	0	0	1	5340	1335	47	3		3	EXPH5	11	108381503	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	7459275	108381503	26625013	232	38418											
CADM1	23705	broad.mit.edu	37	chr11	115085351	115085351	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	atacatacagcatataatccGagtgagctttccccactatg	6	11	0	1	rs376941564		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:115085351G>T	ENST00000452722.3	-	7	991	c.971C>A	c.(970-972)tCg>tAg	p.S324*	CADM1_ENST00000542447.2_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR	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)		CATATAATCCGAGTGAGCTTT	0.423																																						ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(970-972)tCg>tAg		cell adhesion molecule 1							222	199	207					11																	115085351		2201	4296	6497	SO:0001587	stop_gained	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115085351G>T	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.971C>A	11.37:g.115085351G>T	ENSP00000395359:p.Ser324*					CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000452722.2_Nonsense_Mutation_p.S324*|CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR	p.S324*	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1099	-	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)	324			Ig-like C2-type 2.			Nonsense_Mutation	SNP	ENST00000452722.3	37	c.971C>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707897	0.96821	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581	.	.	.	5.62	5.62	0.85841	.	0.132015	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	.	.	.	X	324;324;324;324;283;324	.	ENSP00000329797:S324X	S	-	2	0	CADM1	114590561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.968000	0.56809	2.660000	0.90430	0.655000	0.94253	TCG		0.423	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		9	830	1	0	3.86212e-05	3.86212e-05	0.00332401	9	830					T	115085351	G	T	115085351	4	4	123	1	0	0	0	0	0	1	0	0	2573	1059	37	3	373	3	CADM1	11	115085351	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6703848	115085351	19921165	233	38419											
UBE4A	9354	broad.mit.edu	37	chr11	118250189	118250189	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	atcagatggtaaaaatcaacCaaaatctgcatcggctgcag	8	9	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:118250189C>A	ENST00000431736.2	+	11	1693	c.1621C>A	c.(1621-1623)Caa>Aaa	p.Q541K	UBE4A_ENST00000252108.3_Missense_Mutation_p.Q534K|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAAATCAACCAAAATCTGCA	0.463																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1600-1602)Caa>Aaa		ubiquitination factor E4A							86	89	88					11																	118250189		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118250189C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"U-box domain containing"	12499	protein-coding gene	gene with protein product		603753	"ubiquitination factor E4A (homologous to yeast UFD2)", "ubiquitination factor E4A (UFD2 homolog, yeast)"			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1621C>A	11.37:g.118250189C>A	ENSP00000387362:p.Gln541Lys					UBE4A_ENST00000431736.2_Missense_Mutation_p.Q541K|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K	p.Q534K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	11	1731	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	534						Missense_Mutation	SNP	ENST00000431736.2	37	c.1600C>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571993	0.86542	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.71036	2.16	0.80722	D	1	P;P	0.42941	0.681;0.794	B;B	0.43950	0.437;0.31	T	0.44221	-0.9342	10	0.23891	T	0.37	-9.2888	19.4627	0.94924	0.0:1.0:0.0:0.0	.	534;541	Q14139;Q14139-2	UBE4A_HUMAN;.	K	534;541;6	ENSP00000252108:Q534K;ENSP00000387362:Q541K;ENSP00000438918:Q6K	ENSP00000252108:Q534K	Q	+	1	0	UBE4A	117755399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.588000	0.87417	0.655000	0.94253	CAA		0.463	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		10	488	1	0	6.40141e-05	6.40141e-05	0.00496729	10	488					A	118250189	C	A	118250189	3	1	123	1	0	0	0	0	1	0	0	0	16936	595	21	3	1659	3	UBE4A	11	118250189	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3164838	118250189	16756327	234	38420											
BCL9L	283149	broad.mit.edu	37	chr11	118773004	118773004	+	Frame_Shift_Del	DEL	G	G	-													caggcacttcatgctccagcGgggggccccctaggctctgt					rs147951163	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr11:118773004delG	ENST00000334801.3	-	6	2412	c.1448delC	c.(1447-1449)ccgfs	p.P483fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	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)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						ENST00000334801.3																			0				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						c.(1447-1449)cgfs		B-cell CLL/lymphoma 9-like				23,4115		3,17,2049	50	62	58			-2.9	0.5	11		59	32,8100		3,26,4037	no	frameshift	BCL9L	NM_182557.2		6,43,6086	A1A1,A1R,RR		0.3935,0.5558,0.4482			118773004	55,12215	2158	4253	6411	SO:0001589	frameshift_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004delG	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.1448delC	11.37:g.118773004delG	ENSP00000335320:p.Pro483fs					BCL9L_ENST00000526143.1_5'UTR	p.P483fs	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2412	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Del	DEL	ENST00000334801.3	37	c.1448delC	CCDS8403.1																																																																																				0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	824						7	824	---	---	---	---	-	118773004	G	-	118773004	7	5	123	1	0	1	0	1	0	0	0	0	1383	1116	39	0	3063	0	BCL9L	11	118773004	Frame_Shift_Del	DEL	G	TCGA-YB-A89D-01A-12D-A36O-08	522815	118773004	16233512	235	38421											
PUS3	83480	broad.mit.edu	37	chr11	125766014	125766014	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcggccatgagcactgaaatCaaatgcacgcttagtttttc	8	10	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:125766014C>A	ENST00000530811.1	-	1	211	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.D56Y|HYLS1_ENST00000526028.1_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	56					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GCACTGAAATCAAATGCACGC	0.433																																						ENST00000227474.3																			0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(166-168)Gat>Tat		pseudouridylate synthase 3							222	216	218					11																	125766014		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125766014C>A	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.166G>T	11.37:g.125766014C>A	ENSP00000432386:p.Asp56Tyr					HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.D56Y|HYLS1_ENST00000356438.3_Intron	p.D56Y	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	2	263	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	56					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.166G>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067535	0.76301	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158;ENST00000529801	T;T;T;T	0.61040	1.01;1.01;0.14;1.08	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76280	-0.3017	10	0.87932	D	0	-16.7308	15.9972	0.80260	0.0:0.935:0.0:0.065	.	56	Q9BZE2	PUS3_HUMAN	Y	56	ENSP00000227474:D56Y;ENSP00000432386:D56Y;ENSP00000432272:D56Y;ENSP00000437077:D56Y	ENSP00000227474:D56Y	D	-	1	0	PUS3	125271224	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.462000	0.66707	2.941000	0.99782	0.655000	0.94253	GAT		0.433	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	NM_031307		13	1011	1	0	0.000151284	0.000151284	0.00973904	13	1011					A	125766014	C	A	125766014	3	1	123	1	0	0	0	0	1	0	0	0	12882	826	29	3	1291	3	PUS3	11	125766014	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6993010	125766014	9240502	236	38422											
PRB3	5544	broad.mit.edu	37	chr12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttgggactggtttcctCcttgtgggggtggtccttct	14	10	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	211	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		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)			CTGGTTTCCTCCTTGTGGGGG	0.627																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							74	94	88					12																	11420551		1662	3708	5370	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420551C>T			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.632G>A	12.37:g.11420551C>T	ENSP00000279573:p.Gly211Glu					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050200	0.07407	.	.	ENSG00000197870	ENST00000538488	T	0.08984	3.03	1.13	0.161	0.14977	.	2.415300	0.04566	N	0.392332	T	0.05823	0.0152	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.38779	-0.9645	9	0.39692	T	0.17	.	3.799	0.08751	0.0:0.5104:0.0:0.4895	.	211	Q04118	PRB3_HUMAN	E	190	ENSP00000442626:G190E	ENSP00000279573:G211E	G	-	2	0	PRB3	11311818	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.527000	0.06200	0.043000	0.15746	0.194000	0.17425	GGA		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		11	1131	0	0	0	8.12818e-05	0	11	1131					T	11420551	C	T	11420551	3	4	123	1	0	0	0	0	1	0	0	0	12491	855	30	2	305	2	PRB3	12	11420551	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		11420551	122431344	237	38423											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T													aggcactcttgcctacgccaCcagctccaactaccacaagt					rs121913529		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	396	0	0	0	8.12818e-05	0	6	396					T	25398284	C	T	25398284	3	4	123	1	0	0	0	0	1	0	0	0	8468	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	13977733	25398284	108453611	238	38424	236	2									
KRAS	3845	broad.mit.edu	37	chr12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G													ggcactcttgcctacgccacCagctccaactaccacaagtt					rs121913530		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93	83	86					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		70	330	0	0	0	0.000147903	0	70	330					G	25398285	C	G	25398285	3	3	123	1	0	0	0	0	1	0	0	0	8468	594	21	5	672	5	KRAS	12	25398285	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1	25398285	108453610	239	38425	236	2									
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-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						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	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.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	477						7	477	---	---	---	---	-	46318577	GGT	-	46318575	7	5	123	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-YB-A89D-01A-12D-A36O-08	20920290	46318575	87533320	240	38426											
KRT73	319101	broad.mit.edu	37	chr12	53001991	53001991	+	Frame_Shift_Del	DEL	T	T	-													gttgcacttttatctcatggTttttttggtgggtgagctta							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr12:53001991delT	ENST00000305748.3	-	9	1646	c.1612delA	c.(1612-1614)accfs	p.T538fs	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	538	Tail.					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)		TATCTCATGGTTTTTTTGGTG	0.532																																						ENST00000305748.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1612-1614)ccfs		keratin 73				2,4262		1,0,2131	239	258	252			2	0.6	12		254	19,8235		8,3,4116	no	frameshift	KRT73	NM_175068.2		9,3,6247	A1A1,A1R,RR		0.2302,0.0469,0.1678			53001991	21,12497	2203	4300	6503	SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53001991delT	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.1612delA	12.37:g.53001991delT	ENSP00000307014:p.Thr538fs					RP11-641A6.2_ENST00000551089.1_RNA	p.T538fs	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1646	-			538			Tail.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.1612delA	CCDS8834.1																																																																																				0.532	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		7	881						7	881	---	---	---	---	-	53001991	T	-	53001991	7	5	123	1	0	1	0	1	0	0	0	0	8516	1725	60	0	14	0	KRT73	12	53001991	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	6683416	53001991	80849904	241	38427											
OR6C75	390323	broad.mit.edu	37	chr12	55759411	55759411	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tctgtgcctccaatgtaattGatcattttatctgtgactct	6	9	4	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:55759411G>T	ENST00000343399.3	+	1	517	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CAATGTAATTGATCATTTTAT	0.423																																						ENST00000343399.3																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(517-519)Gat>Tat		olfactory receptor, family 6, subfamily C, member 75							168	144	152					12																	55759411		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759411G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.517G>T	12.37:g.55759411G>T	ENSP00000368987:p.Asp173Tyr						p.D173Y	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	517	+			173						Missense_Mutation	SNP	ENST00000343399.3	37	c.517G>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.056039	0.55325	.	.	ENSG00000187857	ENST00000343399	T	0.00193	8.58	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.129958	0.33854	N	0.004486	T	0.00552	0.0018	M	0.85462	2.755	0.32741	N	0.507645	D	0.89917	1.0	D	0.79108	0.992	T	0.43702	-0.9375	10	0.87932	D	0	.	10.4759	0.44665	0.1511:0.0:0.8489:0.0	.	173	A6NL08	O6C75_HUMAN	Y	173	ENSP00000368987:D173Y	ENSP00000368987:D173Y	D	+	1	0	OR6C75	54045678	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.165000	0.09968	2.725000	0.93324	0.632000	0.83419	GAT		0.423	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			10	545	1	0	5.50884e-06	0.00010058	0.000617672	10	545					T	55759411	G	T	55759411	3	4	123	1	0	0	0	0	1	0	0	0	11241	1290	45	3	519	3	OR6C75	12	55759411	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2757420	55759411	78092484	242	38428											
SHMT2	6472	broad.mit.edu	37	chr12	57626290	57626290	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cactgactgctcgacttttcCggccacggctcatcatagct	8	15	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:57626290C>A	ENST00000328923.3	+	6	1101	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000449049.3_Silent_p.R196R|SHMT2_ENST00000557487.1_Silent_p.R207R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000553474.1_Silent_p.R196R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	217					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)	TCGACTTTTCCGGCCACGGCT	0.592																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(649-651)Cgg>Agg		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						101	100	100					12																	57626290		2203	4300	6503	SO:0001819	synonymous_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626290C>A	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.649C>A	12.37:g.57626290C>A						SHMT2_ENST00000553474.1_Silent_p.R196R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Silent_p.R196R|SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000557487.1_Silent_p.R207R	p.R217R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN			6	1101	+			217					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	c.649C>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119947	0.20877	.	.	ENSG00000182199	ENST00000557529	.	.	.	5.09	3.19	0.36642	.	.	.	.	.	T	0.67515	0.2901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65340	-0.6192	4	.	.	.	-1.3088	13.288	0.60253	0.2884:0.7116:0.0:0.0	.	.	.	.	Q	16	.	.	P	+	2	0	SHMT2	55912557	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	1.494000	0.35616	0.796000	0.33947	0.563000	0.77884	CCG		0.592	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	NM_005412		10	813	1	0	0.000151284	0.000151284	0.00973904	10	813					A	57626290	C	A	57626290	2	1	123	1	0	0	0	0	0	0	0	1	14336	643	23	3		3	SHMT2	12	57626290	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1866879	57626290	76225605	243	38429											
RAP1B	5908	broad.mit.edu	37	chr12	69050210	69050210	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttagaatcttctgcaaaatCaaaaataaatgttaatgagg	6	5	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:69050210C>A	ENST00000250559.9	+	6	680	c.449C>A	c.(448-450)tCa>tAa	p.S150*	RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	150					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCTGCAAAATCAAAAATAAAT	0.338																																						ENST00000250559.9																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(448-450)tCa>tAa		RAP1B, member of RAS oncogene family							126	132	130					12																	69050210		2202	4299	6501	SO:0001587	stop_gained	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050210C>A		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.449C>A	12.37:g.69050210C>A	ENSP00000250559:p.Ser150*					RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*	p.S150*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	6	680	+	Breast(13;1.24e-05)		150					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Nonsense_Mutation	SNP	ENST00000250559.9	37	c.449C>A	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817521	0.90790	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000541216	.	.	.	5.6	5.6	0.85130	.	0.136637	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	.	.	.	X	150;150;150;150;150;108;99;84;84;131;84;108;103;150	.	.	S	+	2	0	RAP1B	67336477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	2.802000	0.96397	0.561000	0.74099	TCA		0.338	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	NM_001010942		15	506	1	0	3.83957e-06	4.16121e-05	0.000462318	15	506					A	69050210	C	A	69050210	4	1	123	1	0	0	0	0	0	1	0	0	13086	838	29	3	467	3	RAP1B	12	69050210	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	11423920	69050210	64801685	244	38430											
PPFIA2	8499	broad.mit.edu	37	chr12	81732982	81732982	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccaagtcgagcttttTcttttttaccaaacaaacgt	6	11	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:81732982T>C	ENST00000549396.1	-	21	2685	c.2525A>G	c.(2524-2526)gAa>gGa	p.E842G	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E842G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G	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	842					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						TCGAGCTTTTTCTTTTTTACC	0.433																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2524-2526)gAa>gGa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							199	195	196					12																	81732982		1853	4104	5957	SO:0001583	missense	8499							g.chr12:81732982T>C	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.2525A>G	12.37:g.81732982T>C	ENSP00000450337:p.Glu842Gly					PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G	p.E842G	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			20	2820	-			768					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2525A>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680892	0.88542	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.84948	2.725	0.80722	D	1	D	0.63880	0.993	P	0.55923	0.787	T	0.55198	-0.8178	10	0.45353	T	0.12	-17.374	15.8745	0.79151	0.0:0.0:0.0:1.0	.	842	O75334	LIPA2_HUMAN	G	842;824;409;59;768;853;824;842;743;842	ENSP00000450337:E842G;ENSP00000450298:E824G;ENSP00000438337:E409G;ENSP00000445532:E59G;ENSP00000385093:E768G;ENSP00000327416:E824G;ENSP00000449338:E842G;ENSP00000388373:E743G;ENSP00000447868:E842G	ENSP00000327416:E824G	E	-	2	0	PPFIA2	80257113	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.937000	0.87672	2.151000	0.67156	0.459000	0.35465	GAA		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			6	706	0	0	0	0.000157383	0	6	706					C	81732982	T	C	81732982	3	2	123	1	0	0	0	0	1	0	0	0	12352	1783	62	4	1296	4	PPFIA2	12	81732982	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	12682772	81732982	52118913	245	38431											
RASSF9	9182	broad.mit.edu	37	chr12	86198780	86198780	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atctctttctggatgccactCaaatgagagtgaattttcaa	7	8	4	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:86198780C>A	ENST00000361228.3	-	2	1376	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	336					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCACTCAAATGAGAGT	0.378																																						ENST00000361228.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1006-1008)ttG>ttT		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							177	180	179					12																	86198780		1850	4088	5938	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198780C>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1008G>T	12.37:g.86198780C>A	ENSP00000354884:p.Leu336Phe						p.L336F	NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN			2	1376	-			336					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1008G>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511967	0.27036	.	.	ENSG00000198774	ENST00000361228	T	0.55413	0.52	4.9	3.99	0.46301	.	0.372072	0.25205	U	0.032355	T	0.31104	0.0786	N	0.12746	0.255	0.35678	D	0.813822	P	0.35793	0.521	B	0.33121	0.158	T	0.45381	-0.9265	10	0.52906	T	0.07	-14.4116	9.0819	0.36556	0.147:0.774:0.0:0.0789	.	336	O75901	RASF9_HUMAN	F	336	ENSP00000354884:L336F	ENSP00000354884:L336F	L	-	3	2	RASSF9	84722911	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.819000	0.27308	2.419000	0.82065	0.650000	0.86243	TTG		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			11	993	1	0	0.00010058	0.00010058	0.0072096	11	993					A	86198780	C	A	86198780	3	1	123	1	0	0	0	0	1	0	0	0	13143	825	29	3	303	3	RASSF9	12	86198780	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4465798	86198780	47653115	246	38432											
IKBIP	121457	broad.mit.edu	37	chr12	99020248	99020248	+	Intron	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aaatcttttagccgttcagtGagcaattttatttcctgctc	6	9	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:99020248G>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.L198L|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						GCCGTTCAGTGAGCAATTTTA	0.348																																						ENST00000299157.4																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(592-594)ctC>ctA		IKBKB interacting protein							149	143	145					12																	99020248		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020248G>T	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+7825C>A	12.37:g.99020248G>T						IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	p.L198L	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN			3	967	-			199					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.594C>A	CCDS9067.1																																																																																				0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		11	597	1	0	9.31168e-06	0.000151284	0.00101158	11	597					T	99020248	G	T	99020248	1	4	123	0	1	0	0	0	0	0	0	0	7639	1277	45	3		3	IKBIP	12	99020248	Intron	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12821468	99020248	34831647	247	38433											
SLC17A8	246213	broad.mit.edu	37	chr12	100774595	100774595	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgccactgctgcggcctccCcaagcgttacatcattgcta	8	16	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:100774595C>A	ENST00000323346.5	+	2	531	c.218C>A	c.(217-219)cCc>cAc	p.P73H	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P73H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	73					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGCGGCCTCCCCAAGCGTTAC	0.527																																						ENST00000323346.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(217-219)cCc>cAc		solute carrier family 17 (vesicular glutamate transporter), member 8							162	151	155					12																	100774595		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774595C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"Solute carriers"	20151	protein-coding gene	gene with protein product	"vesicular glutamate transporter 3"	607557	"deafness, autosomal dominant 25", "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.218C>A	12.37:g.100774595C>A	ENSP00000316909:p.Pro73His					SLC17A8_ENST00000392989.3_Missense_Mutation_p.P73H	p.P73H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN			2	531	+			73					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.218C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578488	0.86645	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.59364	0.27;0.27	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.78157	-0.2313	10	0.87932	D	0	.	18.8896	0.92392	0.0:1.0:0.0:0.0	.	73;73	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	H	73	ENSP00000316909:P73H;ENSP00000376715:P73H	ENSP00000316909:P73H	P	+	2	0	SLC17A8	99298726	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.711000	0.84669	2.466000	0.83321	0.591000	0.81541	CCC		0.527	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		8	553	1	0	0.000157383	0.000157383	0.00973904	8	553					A	100774595	C	A	100774595	3	1	123	1	0	0	0	0	1	0	0	0	14473	623	22	3	224	3	SLC17A8	12	100774595	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1754347	100774595	33077300	248	38434											
SYCP3	50511	broad.mit.edu	37	chr12	102128736	102128736	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttgtgttttccaaacatgttCaattttctggttactagttt	6	6	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:102128736C>A	ENST00000392927.3	-	5	453	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E108*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E108*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	108	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CAAACATGTTCAATTTTCTGG	0.318																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(322-324)Gaa>Taa		synaptonemal complex protein 3							114	110	112					12																	102128736		2201	4299	6500	SO:0001587	stop_gained	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102128736C>A	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.322G>T	12.37:g.102128736C>A	ENSP00000376658:p.Glu108*					SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E108*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E108*	p.E108*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			5	453	-			108			Gln-rich.			Nonsense_Mutation	SNP	ENST00000392927.3	37	c.322G>T	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657794	0.96734	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.68	5.68	0.88126	.	0.114913	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-8.5012	19.7942	0.96472	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000266743:E108X	E	-	1	0	SYCP3	100652867	1.000000	0.71417	0.888000	0.34837	0.895000	0.52256	6.763000	0.74955	2.684000	0.91462	0.313000	0.20887	GAA		0.318	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		11	508	1	0	0.000151284	0.000151284	0.00973904	11	508					A	102128736	C	A	102128736	4	1	123	1	0	0	0	0	0	1	0	0	15486	835	29	3	408	3	SYCP3	12	102128736	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1354141	102128736	31723159	249	38435											
UNG	7374	broad.mit.edu	37	chr12	109547720	109547720	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtagacacttttcaaagacCaatgagctgctgcagaagtc	9	9	1	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:109547720C>A	ENST00000242576.2	+	7	994	c.888C>A	c.(886-888)acC>acA	p.T296T	UNG_ENST00000336865.2_Silent_p.T287T|RP11-968O1.5_ENST00000541704.2_RNA	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTTCAAAGACCAATGAGCTGC	0.478								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													ENST00000336865.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(859-861)acC>acA	Base excision repair (BER), DNA glycosylases	uracil-DNA glycosylase							97	95	96					12																	109547720		2203	4300	6503	SO:0001819	synonymous_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109547720C>A	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.888C>A	12.37:g.109547720C>A						UNG_ENST00000242576.2_Silent_p.T296T	p.T287T	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN			6	1070	+			296						Silent	SNP	ENST00000242576.2	37	c.861C>A	CCDS9124.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423234	0.25639	.	.	ENSG00000076248	ENST00000542183	.	.	.	5.82	4.02	0.46733	.	.	.	.	.	T	0.60340	0.2261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61252	-0.7100	5	0.87932	D	0	-14.9663	4.4685	0.11701	0.2511:0.5308:0.0:0.2181	.	.	.	.	Q	50	.	ENSP00000438623:P50Q	P	+	2	0	UNG	108032103	0.609000	0.26975	1.000000	0.80357	0.961000	0.63080	-0.176000	0.09811	0.831000	0.34780	-0.219000	0.12488	CCA		0.478	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	NM_080911		11	611	1	0	3.86212e-05	3.86212e-05	0.00332401	11	611					A	109547720	C	A	109547720	2	1	123	1	0	0	0	0	0	0	0	1	17053	581	21	3		3	UNG	12	109547720	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	7418984	109547720	24304175	250	38436											
CCDC63	160762	broad.mit.edu	37	chr12	111336859	111336859	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaagataaactgtgaCgccaccaagatcctggtgca	9	10	1	4	rs115748204	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:111336859C>T	ENST00000308208.5	+	10	1514	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_ENST00000552694.1_Silent_p.D345D|CCDC63_ENST00000545036.1_Silent_p.D384D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										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						TAAACTGTGACGCCACCAAGA	0.498													C|||	12	0.00239617	0.0008	0.0	5008	,	,		19408	0.0		0.0	False		,,,				2504	0.0112					ENST00000308208.5																			0				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						c.(1270-1272)gaC>gaT		coiled-coil domain containing 63		C		1,4405	2.1+/-5.4	0,1,2202	100	89	93		1272	-4.7	0.8	12	dbSNP_132	93	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		424/564	111336859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111336859C>T	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.1272C>T	12.37:g.111336859C>T						CCDC63_ENST00000552694.1_Silent_p.D345D|CCDC63_ENST00000545036.1_Silent_p.D384D	p.D424D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN			10	1514	+			424					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1272C>T	CCDS9151.1																																																																																				0.498	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		31	231	0	0	0	3.70037e-05	0	31	231					T	111336859	C	T	111336859	2	4	123	1	0	0	0	0	0	0	0	1	2841	535	19	1		1	CCDC63	12	111336859	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1789139	111336859	22515036	251	38437											
ANKLE2	23141	broad.mit.edu	37	chr12	133304629	133304629	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cccacatacctctgtctgtcCgagggtgagtagcacaggac	11	13	2	1	rs371985719		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:133304629C>A	ENST00000357997.5	-	12	2693	c.2604G>T	c.(2602-2604)tcG>tcT	p.S868S	ANKLE2_ENST00000542657.1_Silent_p.S223S|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000539605.1_Silent_p.S806S|ANKLE2_ENST00000542282.1_Silent_p.S223S	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S868S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGTCTGTCCGAGGGTGAGT	0.572																																						ENST00000539605.1																			1	Substitution - coding silent(1)	p.S868S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2416-2418)tcG>tcT		ankyrin repeat and LEM domain containing 2							119	130	126					12																	133304629		1996	4148	6144	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133304629C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2604G>T	12.37:g.133304629C>A						ANKLE2_ENST00000357997.5_Silent_p.S868S|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000542282.1_Silent_p.S223S|ANKLE2_ENST00000542657.1_Silent_p.S223S	p.S806S			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	9102	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	868					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.2418G>T	CCDS41869.1																																																																																				0.572	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	873	1	0	6.40141e-05	6.40141e-05	0.00496729	10	873					A	133304629	C	A	133304629	2	1	123	1	0	0	0	0	0	0	0	1	633	639	23	3		3	ANKLE2	12	133304629	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	21967770	133304629	547266	252	38438											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	5	9	1	0	rs201542496		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.e4-1		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							47	46	47					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20056686T>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C						TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice	p.M41_splice			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	4	165	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	41					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Splice_Site	SNP	ENST00000400230.2	37	c.119_splice	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation	7	404	0	0	0	6.40141e-05	0	7	404					C	20056686	T	C	20056686	5	2	123	1	0	0	0	0	0	0	1	0	16484	1420	49	4	1515	4	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08		20056686	95113192	253	38439											
ZMYM5	9205	broad.mit.edu	37	chr13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-													tatagattcaataaacacaaCatcatcatcatcatcatcat							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"Zinc fingers, MYM type"	13029	protein-coding gene	gene with protein product			"zinc finger protein 237"	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		13	500						13	500	---	---	---	---	-	20426145	CAT	-	20426143	7	5	123	1	0	1	0	1	0	0	0	0	17756	478	17	0	1966	0	ZMYM5	13	20426143	In_Frame_Del	DEL	CAT	TCGA-YB-A89D-01A-12D-A36O-08	369457	20426143	94743735	254	38440											
IFT88	8100	broad.mit.edu	37	chr13	21230565	21230565	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agaaaatttccagaaaatgtCgaatgtaagtggcattacat	8	5	0	2	rs147013462	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:21230565C>A	ENST00000319980.6	+	24	2418	c.2091C>A	c.(2089-2091)gtC>gtA	p.V697V	IFT88_ENST00000382778.4_Silent_p.V697V|IFT88_ENST00000351808.5_Silent_p.V688V|IFT88_ENST00000537103.1_Silent_p.V669V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	697					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAAATGTCGAATGTAAGT	0.259																																						ENST00000382778.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(2089-2091)gtC>gtA		intraflagellar transport 88 homolog (Chlamydomonas)							57	59	59					13																	21230565		2181	4246	6427	SO:0001819	synonymous_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21230565C>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2091C>A	13.37:g.21230565C>A						IFT88_ENST00000319980.6_Silent_p.V697V|IFT88_ENST00000537103.1_Silent_p.V669V|IFT88_ENST00000351808.5_Silent_p.V688V	p.V697V			Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	23	3209	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	697					A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	37	c.2091C>A	CCDS31944.1																																																																																				0.259	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531		10	401	1	0	9.31168e-06	0.000151284	0.00101158	10	401					A	21230565	C	A	21230565	2	1	123	1	0	0	0	0	0	0	0	1	7596	871	31	3		3	IFT88	13	21230565	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	804422	21230565	93939313	255	38441											
ATP12A	479	broad.mit.edu	37	chr13	25264491	25264491	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaagctctcgtcatcCgagattccgagaagaagacc	10	12	2	4	rs368648921		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:25264491C>A	ENST00000381946.3	+	6	729	c.562C>A	c.(562-564)Cga>Aga	p.R188R	ATP12A_ENST00000218548.6_Silent_p.R188R			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	188					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCTCGTCATCCGAGATTCCGA	0.577																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(562-564)Cga>Aga		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						132	127	129					13																	25264491		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264491C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.562C>A	13.37:g.25264491C>A						ATP12A_ENST00000381946.3_Silent_p.R188R	p.R188R	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	895	+		Lung SC(185;0.0225)|Breast(139;0.077)	188					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.562C>A	CCDS31948.1																																																																																				0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		7	777	1	0	0.000157383	0.000157383	0.00973904	7	777					A	25264491	C	A	25264491	2	1	123	1	0	0	0	0	0	0	0	1	1123	644	23	3		3	ATP12A	13	25264491	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4033926	25264491	89905387	256	38442											
FREM2	341640	broad.mit.edu	37	chr13	39451286	39451286	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gtggctgctgagtttagcttGaacacccaaatgtacctgct	10	10	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:39451286G>T	ENST00000280481.7	+	21	8793	c.8577G>T	c.(8575-8577)ttG>ttT	p.L2859F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2859					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)		AGTTTAGCTTGAACACCCAAA	0.438																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8575-8577)ttG>ttT		FRAS1 related extracellular matrix protein 2							279	243	255					13																	39451286		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451286G>T	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.8577G>T	13.37:g.39451286G>T	ENSP00000280481:p.Leu2859Phe						p.L2859F	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8793	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2859					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8577G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700345	0.68501	.	.	ENSG00000150893	ENST00000280481	T	0.66995	-0.24	5.92	3.07	0.35406	.	0.000000	0.64402	D	0.000003	D	0.82999	0.5159	M	0.89095	3.005	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.85672	0.1295	10	0.87932	D	0	.	12.8854	0.58040	0.0:0.454:0.428:0.1181	.	2859	Q5SZK8	FREM2_HUMAN	F	2859	ENSP00000280481:L2859F	ENSP00000280481:L2859F	L	+	3	2	FREM2	38349286	0.987000	0.35691	1.000000	0.80357	0.972000	0.66771	0.140000	0.16056	0.821000	0.34540	0.467000	0.42956	TTG		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		14	1074	1	0	1.3612e-06	2.31682e-05	0.000177925	14	1074					T	39451286	G	T	39451286	3	4	123	1	0	0	0	0	1	0	0	0	6072	1281	45	3	8659	3	FREM2	13	39451286	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	14186795	39451286	75718592	257	38443											
KBTBD7	84078	broad.mit.edu	37	chr13	41766701	41766701	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gatgagaagcaacttttggtCatgattgacaatctggtagt	11	5	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:41766701C>A	ENST00000379483.3	-	1	2001	c.1693G>T	c.(1693-1695)Gac>Tac	p.D565Y		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	565										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)		AACTTTTGGTCATGATTGACA	0.428																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1693-1695)Gac>Tac		kelch repeat and BTB (POZ) domain containing 7							178	175	176					13																	41766701		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766701C>A	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.1693G>T	13.37:g.41766701C>A	ENSP00000368797:p.Asp565Tyr						p.D565Y	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2001	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	565					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1693G>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	7.206	0.594450	0.13875	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.70164	-0.46	5.37	5.37	0.77165	Kelch-type beta propeller (1);	0.277584	0.34110	U	0.004247	T	0.51753	0.1693	N	0.19112	0.55	0.36583	D	0.87366	P	0.36495	0.556	B	0.31016	0.123	T	0.65228	-0.6219	10	0.72032	D	0.01	.	16.5964	0.84797	0.0:1.0:0.0:0.0	.	565	Q8WVZ9	KBTB7_HUMAN	Y	565;467	ENSP00000368797:D565Y	ENSP00000368797:D565Y	D	-	1	0	KBTBD7	40664701	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.986000	0.40677	2.502000	0.84385	0.557000	0.71058	GAC		0.428	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		14	847	1	0	5.3912e-06	7.07596e-05	0.000617672	14	847					A	41766701	C	A	41766701	3	1	123	1	0	0	0	0	1	0	0	0	8028	826	29	3	365	3	KBTBD7	13	41766701	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2315415	41766701	73403177	258	38444											
EPSTI1	94240	broad.mit.edu	37	chr13	43491691	43491691	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	aagtaccttttgatgttgttCatccttcatcttttgcaatt	5	8	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:43491691C>A	ENST00000398762.3	-	9	759	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	EPSTI1_ENST00000476830.2_5'Flank|EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.E254*|EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	254										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)		TGATGTTGTTCATCCTTCATC	0.328																																						ENST00000313640.7																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(760-762)Gaa>Taa		epithelial stromal interaction 1 (breast)							313	297	303					13																	43491691		2203	4300	6503	SO:0001587	stop_gained	94240							g.chr13:43491691C>A	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.760G>T	13.37:g.43491691C>A	ENSP00000381746:p.Glu254*					EPSTI1_ENST00000398762.3_Nonsense_Mutation_p.E254*|EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*	p.E254*	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	9	824	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	254					Q8IVC7|Q8NDQ7	Nonsense_Mutation	SNP	ENST00000398762.3	37	c.760G>T	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440564	0.96168	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	.	.	.	4.85	4.85	0.62838	.	0.092687	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.3109	15.1843	0.72986	0.0:1.0:0.0:0.0	.	.	.	.	X	254;243;254	.	ENSP00000318643:E243X	E	-	1	0	EPSTI1	42389691	0.950000	0.32346	0.202000	0.23494	0.338000	0.28826	1.745000	0.38278	2.674000	0.91012	0.655000	0.94253	GAA		0.328	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	NM_001002264		16	1559	1	0	6.40141e-05	6.40141e-05	0.00496729	16	1559					A	43491691	C	A	43491691	4	1	123	1	0	0	0	0	0	1	0	0	5216	835	29	3	492	3	EPSTI1	13	43491691	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1724990	43491691	71678187	259	38445											
ZC3H13	23091	broad.mit.edu	37	chr13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-													ctctctgcctcgtatctctcCtctctctctcgcgctctctg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							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)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	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.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		8	625						8	625	---	---	---	---	-	46542017	CT	-	46542016	7	5	123	1	0	1	0	1	0	0	0	0	17618	681	24	0	762	0	ZC3H13	13	46542016	Frame_Shift_Del	DEL	CT	TCGA-YB-A89D-01A-12D-A36O-08	3050325	46542016	68627862	260	38446											
SUCLA2	8803	broad.mit.edu	37	chr13	48570988	48570988	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	aatttagtacctaattttttGgcaattgcataagcttcatc	5	7	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:48570988G>T	ENST00000378654.3	-	2	317	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	87	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTAATTTTTTGGCAATTGCAT	0.368																																						ENST00000378654.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(259-261)gcC>gcA		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						126	121	123					13																	48570988		2203	4300	6503	SO:0001819	synonymous_variant	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48570988G>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.261C>A	13.37:g.48570988G>T						SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000543413.1_Silent_p.A29A	p.A87A	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	2	317	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	87			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Silent	SNP	ENST00000378654.3	37	c.261C>A	CCDS9406.1																																																																																				0.368	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1			9	597	1	0	6.40141e-05	6.40141e-05	0.00496729	9	597					T	48570988	G	T	48570988	2	4	123	1	0	0	0	0	0	0	0	1	15415	1335	47	3		3	SUCLA2	13	48570988	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2028972	48570988	66598890	261	38447											
LMO7	4008	broad.mit.edu	37	chr13	76415307	76415308	+	Frame_Shift_Del	DEL	AG	AG	-													caaagggccaaacaggaggcAgagagagagaattccaagta							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:76415307_76415308delAG	ENST00000321797.8	+	21	3667_3668	c.2946_2947delAG	c.(2944-2949)gcagagfs	p.E983fs	LMO7_ENST00000465261.2_Frame_Shift_Del_p.E983fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.E934fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.E860fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.E1268fs|LMO7_ENST00000357063.3_Frame_Shift_Del_p.E1268fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	1268					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)		AACAGGAGGCAGAGAGAGAGAA	0.386																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3799-3804)gcagfs		LIM domain 7																																				SO:0001589	frameshift_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76415307_76415308delAG	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.2946_2947delAG	13.37:g.76415315_76415316delAG	ENSP00000317802:p.Glu983fs					LMO7_ENST00000465261.2_Frame_Shift_Del_p.AE982fs|LMO7_ENST00000377534.3_Frame_Shift_Del_p.AE1267fs|LMO7_ENST00000341547.4_Frame_Shift_Del_p.AE933fs|LMO7_ENST00000321797.8_Frame_Shift_Del_p.AE982fs|LMO7_ENST00000526202.1_Frame_Shift_Del_p.AE859fs	p.AE1267fs			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	24	5061_5062	+		Breast(118;0.0992)	1267					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Frame_Shift_Del	DEL	ENST00000321797.8	37	c.3801_3802delAG																																																																																					0.386	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		7	426						7	426	---	---	---	---	-	76415308	AG	-	76415307	7	5	123	1	0	1	0	1	0	0	0	0	8888	175	7	0	3895	0	LMO7	13	76415307	Frame_Shift_Del	DEL	AG	TCGA-YB-A89D-01A-12D-A36O-08	27844319	76415307	38754571	262	38448											
SLITRK5	26050	broad.mit.edu	37	chr13	88327922	88327922	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttgttgtccggaaaccttttGaaccgtctctatcccaatga	7	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:88327922G>T	ENST00000325089.6	+	2	498	c.279G>T	c.(277-279)ttG>ttT	p.L93F	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)					GAAACCTTTTGAACCGTCTCT	0.463																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(277-279)ttG>ttT		SLIT and NTRK-like family, member 5							159	165	163					13																	88327922		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327922G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.279G>T	13.37:g.88327922G>T	ENSP00000366283:p.Leu93Phe					SLITRK5_ENST00000400028.3_Intron	p.L93F	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	498	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		93					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.279G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261554	0.39995	.	.	ENSG00000165300	ENST00000325089	T	0.60424	0.19	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000003	T	0.70029	0.3177	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68610	-0.5363	9	.	.	.	-7.6811	11.1672	0.48550	0.0829:0.0:0.9171:0.0	.	93	O94991	SLIK5_HUMAN	F	93	ENSP00000366283:L93F	.	L	+	3	2	SLITRK5	87125923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.494000	0.35616	2.826000	0.97356	0.561000	0.74099	TTG		0.463	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			14	1209	1	0	6.40141e-05	6.40141e-05	0.00496729	14	1209					T	88327922	G	T	88327922	3	4	123	1	0	0	0	0	1	0	0	0	14796	1281	45	3	281	3	SLITRK5	13	88327922	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11912615	88327922	26841956	263	38449											
ZNF828	283489	broad.mit.edu	37	chr13	115091082	115091082	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	tacaaatagatgccatagatGatcaaaaatgtgatattttg	7	4	1	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:115091082G>T	ENST00000361283.1	+	3	2074	c.1765G>T	c.(1765-1767)Gat>Tat	p.D589Y		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	589	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.				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)										TGCCATAGATGATCAAAAATG	0.388																																						ENST00000361283.1																			0											c.(1765-1767)Gat>Tat		chromosome alignment maintaining phosphoprotein 1							195	216	209					13																	115091082		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091082G>T	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.1765G>T	13.37:g.115091082G>T	ENSP00000354730:p.Asp589Tyr						p.D589Y	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN			3	2074	+			589			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1765G>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774288	0.49786	.	.	ENSG00000198824	ENST00000361283	T	0.01572	4.76	5.6	4.74	0.60224	.	0.099413	0.43579	D	0.000555	T	0.04907	0.0132	L	0.50333	1.59	0.33710	D	0.615609	P	0.50710	0.938	P	0.54100	0.742	T	0.39121	-0.9629	9	.	.	.	-2.8332	13.2568	0.60083	0.0748:0.0:0.9252:0.0	.	589	Q96JM3	ZN828_HUMAN	Y	589	ENSP00000354730:D589Y	.	D	+	1	0	ZNF828	114109184	1.000000	0.71417	0.613000	0.29037	0.955000	0.61496	4.221000	0.58574	1.331000	0.45412	0.655000	0.94253	GAT		0.388	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436		20	1814	1	0	6.40141e-05	6.40141e-05	0.00496729	20	1814					T	115091082	G	T	115091082	3	4	123	1	0	0	0	0	1	0	0	0	18234	1290	45	3	1767	3	ZNF828	13	115091082	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	26763160	115091082	78796	264	38450											
SALL2	6297	broad.mit.edu	37	chr14	21991334	21991336	+	In_Frame_Del	DEL	GGT	GGT	-													gaggctgatccaggctgtcaGgtggtggtggtggtggcaaa					rs113881459|rs569568436		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:21991334_21991336delGGT	ENST00000327430.3	-	2	2820_2822	c.2526_2528delACC	c.(2524-2529)ccacct>cct	p.842_843PP>P	SALL2_ENST00000450879.2_In_Frame_Del_p.705_706PP>P|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	842	Poly-Pro.				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)		CAGGCTGTCAGGTGGTGGTGGTG	0.571																																						ENST00000327430.3																			0				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						c.(2524-2529)cct>cc		spalt-like transcription factor 2				1,4263		0,1,2131						1.2	0.7			58	6,8248		0,6,4121	no	coding	SALL2	NM_005407.1		0,7,6252	A1A1,A1R,RR		0.0727,0.0235,0.0559				7,12511				SO:0001651	inframe_deletion	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991334_21991336delGGT	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.2526_2528delACC	14.37:g.21991343_21991345delGGT	ENSP00000333537:p.Pro843del					SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_In_Frame_Del_p.PP705del|SALL2_ENST00000538754.1_Intron	p.PP842del	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2820_2822	-	all_cancers(95;0.000662)		842			Poly-Pro.		B2RMX6|B9EGK8|Q8N656|Q9Y4G1	In_Frame_Del	DEL	ENST00000327430.3	37	c.2526_2528delACC	CCDS32045.1																																																																																				0.571	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		9	583						9	583	---	---	---	---	-	21991336	GGT	-	21991334	7	5	123	1	0	1	0	1	0	0	0	0	13861	1000	35	0	499	0	SALL2	14	21991334	In_Frame_Del	DEL	GGT	TCGA-YB-A89D-01A-12D-A36O-08		21991334	85358206	265	38451											
FAM179B	23116	broad.mit.edu	37	chr14	45475240	45475240	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ctcaagaaaaacctccagttCagcttacacctgccttggtg	7	13	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:45475240C>A	ENST00000361577.3	+	5	2888	c.2674C>A	c.(2674-2676)Cag>Aag	p.Q892K	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	892										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACCTCCAGTTCAGCTTACACC	0.413																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(2674-2676)Cag>Aag		family with sequence similarity 179, member B							85	86	86					14																	45475240		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45475240C>A	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.2674C>A	14.37:g.45475240C>A	ENSP00000355045:p.Gln892Lys					FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q892K|KLHL28_ENST00000553817.1_Intron	p.Q892K			Q9Y4F4	F179B_HUMAN			5	2857	+			892					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2674C>A	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440826|4.440826	0.83993|0.83993	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000557250|ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.|T;T;T	.|0.32515	.|2.71;2.7;1.45	5.39|5.39	4.49|4.49	0.54785|0.54785	.|Armadillo-type fold (1);	.|0.423728	.|0.22562	.|N	.|0.058445	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.29908|0.29908	0.895|0.895	0.31755|0.31755	N|N	0.63409|0.63409	.|D;D;D	.|0.62365	.|0.991;0.979;0.979	.|P;P;P	.|0.56563	.|0.725;0.801;0.801	T|T	0.35076|0.35076	-0.9803|-0.9803	5|10	.|0.23302	.|T	.|0.38	-4.6402|-4.6402	15.8279|15.8279	0.78727|0.78727	0.0:0.8634:0.1366:0.0|0.0:0.8634:0.1366:0.0	.|.	.|892;892;892	.|G3XAE9;Q9Y4F4;Q9Y4F4-2	.|.;F179B_HUMAN;.	L|K	83|892	.|ENSP00000355045:Q892K;ENSP00000354917:Q892K;ENSP00000371668:Q892K	.|ENSP00000354917:Q892K	F|Q	+|+	3|1	2|0	FAM179B|FAM179B	44544990|44544990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.803000|3.803000	0.55560|0.55560	1.271000|1.271000	0.44313|0.44313	0.558000|0.558000	0.71614|0.71614	TTC|CAG		0.413	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		11	575	1	0	0.00010058	0.00010058	0.0072096	11	575					A	45475240	C	A	45475240	3	1	123	1	0	0	0	0	1	0	0	0	5527	827	29	3	2692	3	FAM179B	14	45475240	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	23483906	45475240	61874300	266	38452											
DDHD1	80821	broad.mit.edu	37	chr14	53518604	53518604	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattacattttccggaaaaaGaagttgtgggagattaaaga	10	4	0	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:53518604G>T	ENST00000323669.5	-	12	2478	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	827	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCGGAAAAAGAAGTTGTGGG	0.343																																						ENST00000323669.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2479-2481)Ctt>Att		DDHD domain containing 1							80	70	73					14																	53518604		1566	3579	5145	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53518604G>T	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.2479C>A	14.37:g.53518604G>T	ENSP00000327104:p.Leu827Ile					DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron	p.L827I	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN			12	2478	-	Breast(41;0.037)		827			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2479C>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135008	0.56828	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	5.19	0.71726	DDHD (2);	0.301493	0.30969	N	0.008510	T	0.36413	0.0966	N	0.08118	0	0.80722	D	1	P	0.38048	0.616	B	0.42738	0.396	T	0.28138	-1.0053	9	0.31617	T	0.26	-10.4012	11.0964	0.48147	0.084:0.0:0.916:0.0	.	827	Q8NEL9	DDHD1_HUMAN	I	827;698	.	ENSP00000327104:L827I	L	-	1	0	DDHD1	52588354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.931000	0.48932	1.582000	0.49881	0.655000	0.94253	CTT		0.343	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1			18	58	1	0	2.4624e-09	0.000132079	3.56144e-07	18	58					T	53518604	G	T	53518604	3	4	123	1	0	0	0	0	1	0	0	0	4337	942	33	3	231	3	DDHD1	14	53518604	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	8043364	53518604	53830936	267	38453											
ACTR10	55860	broad.mit.edu	37	chr14	58698943	58698943	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcactaagacatttcgaattCatactccacctgcaaaagct	5	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:58698943C>A	ENST00000254286.4	+	12	1110	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	344					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						ATTTCGAATTCATACTCCACC	0.348																																						ENST00000254286.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1030-1032)Cat>Aat		actin-related protein 10 homolog (S. cerevisiae)							86	95	92					14																	58698943		2203	4300	6503	SO:0001583	missense	55860					cytoplasm		g.chr14:58698943C>A	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.1030C>A	14.37:g.58698943C>A	ENSP00000254286:p.His344Asn					ACTR10_ENST00000554402.1_3'UTR	p.H344N	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN			12	1110	+			344					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.1030C>A	CCDS32090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861387|4.861387	0.91433|0.91433	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000254286|ENST00000554642	D|.	0.94650|.	-3.48|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82559|.	0.5063|.	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.68039|.	0.955;0.955|.	T|.	0.82452|.	-0.0450|.	9|.	.|.	.|.	.|.	0.0837|0.0837	19.3504|19.3504	0.94381|0.94381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;344|.	Q53H79;Q9NZ32|.	.;ARP10_HUMAN|.	N|X	344|75	ENSP00000254286:H344N|.	.|.	H|S	+|+	1|2	0|0	ACTR10|ACTR10	57768696|57768696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.687000|7.687000	0.84139|0.84139	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.348	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			12	837	1	0	1.3612e-06	2.31682e-05	0.000177925	12	837					A	58698943	C	A	58698943	3	1	123	1	0	0	0	0	1	0	0	0	208	826	29	3	1076	3	ACTR10	14	58698943	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5180339	58698943	48650597	268	38454											
PRKCH	5583	broad.mit.edu	37	chr14	62014550	62014550	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	catcctttttttaaggaaatCgactgggcccagctgaacca	8	11	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:62014550C>A	ENST00000332981.5	+	13	2236	c.1851C>A	c.(1849-1851)atC>atA	p.I617I	PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000555082.1_Silent_p.I456I|RP11-47I22.4_ENST00000556347.1_Nonsense_Mutation_p.S122*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	617	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TTAAGGAAATCGACTGGGCCC	0.522																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000556347.1																			0											c.(364-366)tCg>tAg									186	185	185					14																	62014550		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:62014550C>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1851C>A	14.37:g.62014550C>A						PRKCH_ENST00000332981.5_Silent_p.I617I|PRKCH_ENST00000555082.1_Silent_p.I456I|PRKCH_ENST00000556245.1_3'UTR	p.S122*							3	365	+								B4DJN5|Q16246|Q8NE03	Nonsense_Mutation	SNP	ENST00000332981.5	37	c.365C>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625782	0.28889	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.99	-3.06	0.05379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7596	0.05302	0.0995:0.3258:0.1509:0.4239	.	.	.	.	X	122	.	.	S	+	2	0	RP11-47I22.4	61084303	0.006000	0.16342	0.993000	0.49108	0.997000	0.91878	-1.142000	0.03203	-0.205000	0.10219	0.655000	0.94253	TCG		0.522	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255		17	1211	1	0	0.00010058	0.00010058	0.0072096	17	1211					A	62014550	C	A	62014550	2	1	123	1	0	0	0	0	0	0	0	1	12560	874	31	3		3	PRKCH	14	62014550	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3315607	62014550	45334990	269	38455											
KCNH5	27133	broad.mit.edu	37	chr14	63174303	63174303	+	Frame_Shift_Del	DEL	G	G	-													aatatcctgacatggtatctGggggggtacttggagtggca							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:63174303delG	ENST00000322893.7	-	11	3158	c.2890delC	c.(2890-2892)cagfs	p.Q964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					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)		CATGGTATCTGGGGGGGTACT	0.393																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(2890-2892)agfs		potassium voltage-gated channel, subfamily H (eag-related), member 5							110	126	120					14																	63174303		2203	4300	6503	SO:0001589	frameshift_variant	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63174303delG	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.2890delC	14.37:g.63174303delG	ENSP00000321427:p.Gln964fs					KCNH5_ENST00000420622.2_3'UTR	p.Q964fs	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	11	3158	-			964					C9JP98	Frame_Shift_Del	DEL	ENST00000322893.7	37	c.2890delC	CCDS9756.1																																																																																				0.393	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		8	1198						8	1198	---	---	---	---	-	63174303	G	-	63174303	7	5	123	1	0	1	0	1	0	0	0	0	8065	1357	47	0	80	0	KCNH5	14	63174303	Frame_Shift_Del	DEL	G	TCGA-YB-A89D-01A-12D-A36O-08	1159753	63174303	44175237	270	38456											
PPP2R5E	5529	broad.mit.edu	37	chr14	63881941	63881941	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	caaaaatcgtatgaaaaattCatatacaagctgcaacaaac	4	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:63881941C>A	ENST00000337537.3	-	5	1068	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	156					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ATGAAAAATTCATATACAAGC	0.308																																						ENST00000337537.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(466-468)Gaa>Taa		protein phosphatase 2, regulatory subunit B', epsilon isoform							71	74	73					14																	63881941		2202	4295	6497	SO:0001587	stop_gained	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63881941C>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.466G>T	14.37:g.63881941C>A	ENSP00000337641:p.Glu156*					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*	p.E156*	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	5	1068	-			156					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Nonsense_Mutation	SNP	ENST00000337537.3	37	c.466G>T	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	43	10.299674	0.99378	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5843	18.2575	0.90024	0.0:1.0:0.0:0.0	.	.	.	.	X	156;156;80	.	ENSP00000337641:E156X	E	-	1	0	PPP2R5E	62951694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.746000	0.85057	2.664000	0.90586	0.650000	0.86243	GAA		0.308	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		17	620	1	0	8.00594e-06	9.7654e-05	0.000889496	17	620					A	63881941	C	A	63881941	4	1	123	1	0	0	0	0	0	1	0	0	12443	835	29	3	977	3	PPP2R5E	14	63881941	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	707638	63881941	43467599	271	38457											
PCNX	22990	broad.mit.edu	37	chr14	71444749	71444749	+	Frame_Shift_Del	DEL	A	A	-													tcaggcaggagacgcacaggAaaaaaacgggctagcagttt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:71444749delA	ENST00000304743.2	+	6	2141	c.1695delA	c.(1693-1695)ggafs	p.G565fs	PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	565						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)		GACGCACAGGAAAAAAACGGG	0.473																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1693-1695)ggfs		pecanex homolog (Drosophila)							102	102	102					14																	71444749		2203	4300	6503	SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71444749delA	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.1695delA	14.37:g.71444749delA	ENSP00000304192:p.Gly565fs					PCNX_ENST00000238570.5_Frame_Shift_Del_p.G565fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.G565fs	p.G565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2141	+			565					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Del	DEL	ENST00000304743.2	37	c.1695delA	CCDS9806.1																																																																																				0.473	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		7	883						7	883	---	---	---	---	-	71444749	A	-	71444749	7	5	123	1	0	1	0	1	0	0	0	0	11633	233	9	0	1717	0	PCNX	14	71444749	Frame_Shift_Del	DEL	A	TCGA-YB-A89D-01A-12D-A36O-08	7562808	71444749	35904791	272	38458											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	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																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	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					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		11	163						11	163	---	---	---	---	-	74205928	CTG	-	74205926	7	5	123	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-YB-A89D-01A-12D-A36O-08	2761177	74205926	33143614	273	38459											
C14orf115	55237	broad.mit.edu	37	chr14	74824463	74824463	+	Frame_Shift_Del	DEL	G	G	-													cctgcaggacagcttccaccGggggggcgtcgtgccacttc					rs201579420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:74824463delG	ENST00000256362.4	+	2	1218	c.977delG	c.(976-978)cggfs	p.R326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						AGCTTCCACCGGGGGGGCGTC	0.642																																						ENST00000256362.4																			1	Insertion - Frameshift(1)	p.V329fs*25(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(976-978)cgfs		vertebrae development associated							51	57	55					14																	74824463		2203	4300	6503	SO:0001589	frameshift_variant	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824463delG	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.977delG	14.37:g.74824463delG	ENSP00000256362:p.Arg326fs						p.R326fs	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1218	+			326					Q9NVC7	Frame_Shift_Del	DEL	ENST00000256362.4	37	c.977delG	CCDS9830.1																																																																																				0.642	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		7	640						7	640	---	---	---	---	-	74824463	G	-	74824463	7	5	123	1	0	1	0	1	0	0	0	0	1745	1116	39	0	979	0	C14orf115	14	74824463	Frame_Shift_Del	DEL	G	TCGA-YB-A89D-01A-12D-A36O-08	618537	74824463	32525077	274	38460											
BTBD7	55727	broad.mit.edu	37	chr14	93761126	93761126	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cgcatctgcttggcatgatcGgcagacctattagatttccg	10	11	1	3	rs146080654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:93761126G>T	ENST00000334746.5	-	3	547	c.240C>A	c.(238-240)gcC>gcA	p.A80A	BTBD7_ENST00000555525.1_Silent_p.A80A|BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	80					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGCATGATCGGCAGACCTAT	0.448																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(238-240)gcC>gcA		BTB (POZ) domain containing 7							138	141	140					14																	93761126		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93761126G>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.240C>A	14.37:g.93761126G>T						BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000555525.1_Silent_p.A80A	p.A80A	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	547	-		all_cancers(154;0.08)	80					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.240C>A	CCDS32146.1																																																																																				0.448	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		12	999	1	0	0.000151284	0.000151284	0.00973904	12	999					T	93761126	G	T	93761126	2	4	123	1	0	0	0	0	0	0	0	1	1550	1103	39	3		3	BTBD7	14	93761126	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	18936663	93761126	13588414	275	38461											
HSP90AA1	3320	broad.mit.edu	37	chr14	102551161	102551163	+	In_Frame_Del	DEL	TCT	TCT	-													atcgatgtacttttccttaaTcttcttcttcttcttcttgt					rs55793809	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr14:102551161_102551163delTCT	ENST00000216281.8	-	5	1041_1043	c.836_838delAGA	c.(835-840)aagatt>att	p.K279del	HSP90AA1_ENST00000334701.7_In_Frame_Del_p.K401del|HSP90AA1_ENST00000441629.2_In_Frame_Del_p.K100del	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	279					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)	ttttccttaatcttcttcttctt	0.389																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(1201-1206)att>a		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)																																			SO:0001651	inframe_deletion	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102551161_102551163delTCT	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.836_838delAGA	14.37:g.102551170_102551172delTCT	ENSP00000216281:p.Lys279del					HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del|HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del	p.KI401del	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			6	1483_1485	-			279					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	In_Frame_Del	DEL	ENST00000216281.8	37	c.1202_1204delAGA	CCDS9967.1																																																																																				0.389	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		10	406						10	406	---	---	---	---	-	102551163	TCT	-	102551161	7	5	123	1	0	1	0	1	0	0	0	0	7431	1435	50	0	1388	0	HSP90AA1	14	102551161	In_Frame_Del	DEL	TCT	TCGA-YB-A89D-01A-12D-A36O-08	8790035	102551161	4798379	276	38462											
ATP10A	57194	broad.mit.edu	37	chr15	25928570	25928570	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	gaagattagataccactggtCaatcatggtagatgcagaga	11	6	2	4			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25928570C>G	ENST00000356865.6	-	17	3466	c.3355G>C	c.(3355-3357)Gac>Cac	p.D1119H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1119					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)		TACCACTGGTCAATCATGGTA	0.502																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3355-3357)Gac>Cac		ATPase, class V, type 10A							83	81	81					15																	25928570		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25928570C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3355G>C	15.37:g.25928570C>G	ENSP00000349325:p.Asp1119His						p.D1119H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	17	3466	-		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)	1119					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3355G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693762	0.88735	.	.	ENSG00000206190	ENST00000356865	T	0.42131	0.98	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83740	0.0203	10	0.87932	D	0	-36.8332	17.8828	0.88845	0.0:1.0:0.0:0.0	.	1119	O60312	AT10A_HUMAN	H	1119	ENSP00000349325:D1119H	ENSP00000349325:D1119H	D	-	1	0	ATP10A	23479663	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.511000	0.81718	2.205000	0.71048	0.655000	0.94253	GAC		0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		5	202	0	0	0	1.23904e-05	0	5	202					G	25928570	C	G	25928570	3	3	123	1	0	0	0	0	1	0	0	0	1117	826	29	5	1164	5	ATP10A	15	25928570	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		25928570	76602822	277	38463											
HERC2	8924	broad.mit.edu	37	chr15	28370319	28370319	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cagttgtccctcatcattgtCgccccatgtataaacctcac	5	15	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:28370319C>A	ENST00000261609.7	-	84	12931	c.12823G>T	c.(12823-12825)Gac>Tac	p.D4275Y		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)		TCATCATTGTCGCCCCATGTA	0.522																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12823-12825)Gac>Tac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							211	191	198					15																	28370319		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370319C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12823G>T	15.37:g.28370319C>A	ENSP00000261609:p.Asp4275Tyr						p.D4275Y	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12931	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4275						Missense_Mutation	SNP	ENST00000261609.7	37	c.12823G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814952	0.90790	.	.	ENSG00000128731	ENST00000261609	D	0.84730	-1.89	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90196	0.4253	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	Y	4275	ENSP00000261609:D4275Y	ENSP00000261609:D4275Y	D	-	1	0	HERC2	26043914	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GAC		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		10	1162	1	0	0.000157383	0.000157383	0.00973904	10	1162					A	28370319	C	A	28370319	3	1	123	1	0	0	0	0	1	0	0	0	7088	884	31	3	1721	3	HERC2	15	28370319	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2441749	28370319	74161073	278	38464											
TRPM7	54822	broad.mit.edu	37	chr15	50929637	50929637	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actagcatgaattctttgctGattaatagttttttcaagtt	6	5	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:50929637G>T	ENST00000313478.7	-	7	1095	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	272					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)		ATTCTTTGCTGATTAATAGTT	0.358																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(814-816)Cag>Aag		transient receptor potential cation channel, subfamily M, member 7							88	84	85					15																	50929637		1853	4089	5942	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50929637G>T	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.814C>A	15.37:g.50929637G>T	ENSP00000320239:p.Gln272Lys					TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	7	1095	-			272					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.814C>A	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696509	0.48202	.	.	ENSG00000092439	ENST00000313478	T	0.61158	0.13	5.36	5.36	0.76844	.	0.199755	0.43416	D	0.000577	T	0.36663	0.0975	N	0.16656	0.425	0.28451	N	0.916321	B	0.22080	0.064	B	0.16289	0.015	T	0.14755	-1.0461	10	0.12103	T	0.63	-1.1516	10.7969	0.46466	0.1448:0.0:0.8552:0.0	.	272	Q96QT4	TRPM7_HUMAN	K	272	ENSP00000320239:Q272K	ENSP00000320239:Q272K	Q	-	1	0	TRPM7	48716929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.528000	0.60580	2.805000	0.96524	0.650000	0.86243	CAG		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		9	497	1	0	6.31663e-08	2.31682e-05	8.87341e-06	9	497					T	50929637	G	T	50929637	3	4	123	1	0	0	0	0	1	0	0	0	16644	1299	45	3	4915	3	TRPM7	15	50929637	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	22559318	50929637	51601755	279	38465											
PIGB	9488	broad.mit.edu	37	chr15	55642957	55642957	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tctaagtttcctgtttttatCaaatttgttcctcgcccttt	4	10	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55642957C>A	ENST00000164305.5	+	10	1475	c.1184C>A	c.(1183-1185)tCa>tAa	p.S395*	PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*|CCPG1_ENST00000563294.1_5'Flank	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	395					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)		CTGTTTTTATCAAATTTGTTC	0.343																																						ENST00000164305.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(1183-1185)tCa>tAa		phosphatidylinositol glycan anchor biosynthesis, class B							149	149	149					15																	55642957		1821	4071	5892	SO:0001587	stop_gained	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55642957C>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	8959	protein-coding gene	gene with protein product	"GPI mannosyltransferase 3", "dol-P-Man dependent GPI mannosyltransferase"	604122	"phosphatidylinositol glycan, class B"			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1184C>A	15.37:g.55642957C>A	ENSP00000164305:p.Ser395*					PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*	p.S395*	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	10	1475	+			395					Q53FF9|Q8WVN7	Nonsense_Mutation	SNP	ENST00000164305.5	37	c.1184C>A		.	.	.	.	.	.	.	.	.	.	C	40	8.168956	0.98688	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	.	.	.	6.08	5.16	0.70880	.	0.432063	0.25863	N	0.027801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.2184	14.3722	0.66849	0.0:0.9296:0.0:0.0704	.	.	.	.	X	395;200	.	ENSP00000164305:S395X	S	+	2	0	PIGB	53430249	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	3.396000	0.52565	1.575000	0.49775	0.591000	0.81541	TCA		0.343	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		13	888	1	0	3.45872e-05	3.45872e-05	0.0032145	13	888					A	55642957	C	A	55642957	4	1	123	1	0	0	0	0	0	1	0	0	11927	838	29	3	1222	3	PIGB	15	55642957	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4713320	55642957	46888435	280	38466											
CCPG1	9236	broad.mit.edu	37	chr15	55652145	55652145	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcccaggactgcatttctttGaatttgtattttttctgaat	7	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55652145G>T	ENST00000310958.6	-	8	2124	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*	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	609					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)		GCATTTCTTTGAATTTGTATT	0.373																																						ENST00000310958.6																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1825-1827)tCa>tAa		cell cycle progression 1							81	79	79					15																	55652145		1799	4059	5858	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55652145G>T	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.1826C>A	15.37:g.55652145G>T	ENSP00000311656:p.Ser609*					CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*|DYX1C1-CCPG1_ENST00000565113.1_RNA	p.S609*	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		all cancers(107;0.0354)	8	2124	-			609					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.1826C>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	9.715	1.158088	0.21454	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	.	.	.	5.62	4.7	0.59300	.	0.270366	0.30320	N	0.009898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7122	0.51630	0.0808:0.0:0.9192:0.0	.	.	.	.	X	609	.	ENSP00000311656:S609X	S	-	2	0	DYX1C1	53439437	0.186000	0.23225	0.002000	0.10522	0.061000	0.15899	3.051000	0.49885	1.393000	0.46605	0.655000	0.94253	TCA		0.373	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		17	588	1	0	5.01169e-05	5.01169e-05	0.00428325	17	588					T	55652145	G	T	55652145	4	4	123	1	0	0	0	0	0	1	0	0	2947	1294	45	3	451	3	CCPG1	15	55652145	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	9188	55652145	46879247	281	38467											
FAM63B	54629	broad.mit.edu	37	chr15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-													aggaacaggaacaagcagcaGctgctgctgctgctgcttct					rs369163190		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									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						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				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						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	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.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	519						7	519	---	---	---	---	-	59144134	GCT	-	59144132	7	5	123	1	0	1	0	1	0	0	0	0	5622	971	34	0	1735	0	FAM63B	15	59144132	In_Frame_Del	DEL	GCT	TCGA-YB-A89D-01A-12D-A36O-08	3491987	59144132	43387260	282	38468											
VPS13C	54832	broad.mit.edu	37	chr15	62173113	62173113	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agctcctagaaacccttgatCaatttttaaggccatttcct	5	11	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:62173113C>A	ENST00000261517.5	-	72	9890	c.9817G>T	c.(9817-9819)Gat>Tat	p.D3273Y	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y	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						AACCCTTGATCAATTTTTAAG	0.318																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9817-9819)Gat>Tat		vacuolar protein sorting 13 homolog C (S. cerevisiae)							55	59	58					15																	62173113		2202	4298	6500	SO:0001583	missense	54832				protein localization			g.chr15:62173113C>A	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.9817G>T	15.37:g.62173113C>A	ENSP00000261517:p.Asp3273Tyr					VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y	p.D3273Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			72	9890	-			3273						Missense_Mutation	SNP	ENST00000261517.5	37	c.9817G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286607	0.80803	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D	0.84370	-1.84;-1.84;-1.84	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.86097	2.795	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	0.93947	0.7228	10	0.87932	D	0	.	19.7126	0.96102	0.0:1.0:0.0:0.0	.	3230;3273;3230;3273	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	3230;3273;3273;3273	ENSP00000249837:D3230Y;ENSP00000261517:D3273Y;ENSP00000379233:D3273Y	ENSP00000249837:D3230Y	D	-	1	0	VPS13C	59960405	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.454000	0.80714	2.664000	0.90586	0.650000	0.86243	GAT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		11	523	1	0	2.31682e-05	2.31682e-05	0.00220351	11	523					A	62173113	C	A	62173113	3	1	123	1	0	0	0	0	1	0	0	0	17245	826	29	3	1528	3	VPS13C	15	62173113	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3028981	62173113	40358279	283	38469											
FEM1B	10116	broad.mit.edu	37	chr15	68582429	68582429	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tactctctcatgctgattgcGaccgaagaagtcggattgaa	10	9	2	3	rs375920632		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:68582429G>T	ENST00000306917.4	+	2	1348	c.733G>T	c.(733-735)Gac>Tac	p.D245Y		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	245					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						TGCTGATTGCGACCGAAGAAG	0.438																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(733-735)Gac>Tac		fem-1 homolog b (C. elegans)							133	130	131					15																	68582429		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582429G>T		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.733G>T	15.37:g.68582429G>T	ENSP00000307298:p.Asp245Tyr						p.D245Y	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	1348	+			245					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.733G>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317944	0.60524	.	.	ENSG00000169018	ENST00000306917	T	0.60797	0.16	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.041995	0.85682	D	0.000000	T	0.60483	0.2272	L	0.38175	1.15	0.80722	D	1	P	0.48694	0.914	P	0.52793	0.709	T	0.62661	-0.6807	10	0.72032	D	0.01	-13.848	14.2431	0.65971	0.0734:0.0:0.9266:0.0	.	245	Q9UK73	FEM1B_HUMAN	Y	245	ENSP00000307298:D245Y	ENSP00000307298:D245Y	D	+	1	0	FEM1B	66369483	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.746000	0.74866	2.717000	0.92951	0.555000	0.69702	GAC		0.438	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			9	587	1	0	2.17888e-05	2.17888e-05	0.00213033	9	587					T	68582429	G	T	68582429	3	4	123	1	0	0	0	0	1	0	0	0	5835	1058	37	3	739	3	FEM1B	15	68582429	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6409316	68582429	33948963	284	38470											
PKM2	5315	broad.mit.edu	37	chr15	72500985	72500985	+	Silent	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	cgaaccccctcatgattctcGattttgctgataatcttgat	6	11	3	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72500985G>T	ENST00000335181.5	-	6	916	c.813C>A	c.(811-813)atC>atA	p.I271I	PKM_ENST00000565184.1_Silent_p.I271I|PKM_ENST00000389093.3_Silent_p.I271I|PKM_ENST00000568459.1_Silent_p.I271I|PKM_ENST00000319622.6_Silent_p.I271I|PKM_ENST00000568883.1_Silent_p.I106I|PKM_ENST00000565154.1_Silent_p.I271I|PKM_ENST00000449901.2_Silent_p.I256I	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	271					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.I271I(1)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CATGATTCTCGATTTTGCTGA	0.512																																						ENST00000319622.6																			1	Substitution - coding silent(1)	p.I271I(1)	large_intestine(1)	endometrium(1)|lung(7)	8						c.(811-813)atC>atA		pyruvate kinase, muscle							181	155	164					15																	72500985		2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72500985G>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.813C>A	15.37:g.72500985G>T						PKM_ENST00000335181.5_Silent_p.I271I|PKM_ENST00000565184.1_Silent_p.I271I|PKM_ENST00000568883.1_Silent_p.I106I|PKM_ENST00000449901.2_Silent_p.I256I|PKM_ENST00000568459.1_Silent_p.I271I|PKM_ENST00000389093.3_Silent_p.I271I|PKM_ENST00000565154.1_Silent_p.I271I	p.I271I	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1					6	1269	-								A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.813C>A	CCDS32284.1																																																																																				0.512	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			11	487	1	0	0.000151284	0.000151284	0.00973904	11	487					T	72500985	G	T	72500985	2	4	123	1	0	0	0	0	0	0	0	1	12019	1048	37	3		3	PKM2	15	72500985	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3918556	72500985	30030407	285	38471											
HEXA	3073	broad.mit.edu	37	chr15	72643552	72643552	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agatgccagtggaacacgttCaatttattgtacgccatgac	9	9	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72643552C>A	ENST00000268097.5	-	6	1097	c.594G>T	c.(592-594)ttG>ttT	p.L198F	HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	198					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGAACACGTTCAATTTATTGT	0.473																																						ENST00000268097.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(592-594)ttG>ttT		hexosaminidase A (alpha polypeptide)							161	136	144					15																	72643552		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72643552C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"Tay Sachs disease", "GM2 gangliosidosis"	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.594G>T	15.37:g.72643552C>A	ENSP00000268097:p.Leu198Phe					RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F	p.L198F	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN			6	1097	-			198					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.594G>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755942	0.49362	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96913	-4.17;-4.17;-4.17	5.78	3.88	0.44766	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.228413	0.45361	N	0.000368	D	0.86752	0.6008	N	0.04669	-0.19	0.38384	D	0.945222	B;B;B;B;B	0.15719	0.014;0.001;0.014;0.006;0.002	B;B;B;B;B	0.22152	0.038;0.019;0.038;0.023;0.018	T	0.77789	-0.2456	10	0.07482	T	0.82	-10.1601	5.9301	0.19134	0.0715:0.2888:0.5184:0.1213	.	25;209;25;78;198	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	F	198;6;25	ENSP00000268097:L198F;ENSP00000398026:L6F;ENSP00000416187:L25F	ENSP00000268097:L198F	L	-	3	2	HEXA	70430606	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	0.207000	0.17395	0.750000	0.32877	0.655000	0.94253	TTG		0.473	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		9	348	1	0	1.12685e-05	1.12685e-05	0.00119236	9	348					A	72643552	C	A	72643552	3	1	123	1	0	0	0	0	1	0	0	0	7103	825	29	3	1031	3	HEXA	15	72643552	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	142567	72643552	29887840	286	38472											
CHRNB4	1143	broad.mit.edu	37	chr15	78927852	78927852	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagctggtggctgggcGgatcaggttattgtaacggg	19	5	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:78927852G>T	ENST00000261751.3	-	2	244	c.133C>A	c.(133-135)Cgc>Agc	p.R45S	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	45					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)	GTGGCTGGGCGGATCAGGTTA	0.572																																						ENST00000261751.3																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(133-135)Cgc>Agc		cholinergic receptor, nicotinic, beta 4 (neuronal)							214	203	207					15																	78927852		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78927852G>T	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.133C>A	15.37:g.78927852G>T	ENSP00000261751:p.Arg45Ser					CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S|CHRNB4_ENST00000560511.1_5'UTR	p.R45S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN			2	244	-			45					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.133C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802420	0.70682	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.82893	-1.66;-1.66	3.98	3.98	0.46160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074052	0.53938	D	0.000053	D	0.94653	0.8276	H	0.98466	4.24	0.49798	D	0.999829	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.97131	0.9818	10	0.87932	D	0	.	16.1772	0.81858	0.0:0.0:1.0:0.0	.	45;45	E9PHE8;P30926	.;ACHB4_HUMAN	S	45	ENSP00000261751:R45S;ENSP00000416386:R45S	ENSP00000261751:R45S	R	-	1	0	CHRNB4	76714907	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.391000	0.66266	1.797000	0.52628	0.430000	0.28490	CGC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			9	925	1	0	3.86212e-05	3.86212e-05	0.00332401	9	925					T	78927852	G	T	78927852	3	4	123	1	0	0	0	0	1	0	0	0	3402	1116	39	3	1383	3	CHRNB4	15	78927852	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	6284300	78927852	23603540	287	38473											
AGBL1	123624	broad.mit.edu	37	chr15	87531267	87531267	+	Frame_Shift_Del	DEL	T	T	-													atatttggtttgcttaccacTtttttgccattacaaacttt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:87531267delT	ENST00000441037.2	+	23	3228	c.3133delT	c.(3133-3135)tttfs	p.F1046fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.F777fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.F1046fs|RP11-133L19.1_ENST00000558587.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1046			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		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						tgcttaccacttttttgccat	0.388																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(3133-3135)ttfs		ATP/GTP binding protein-like 1							270	255	260					15																	87531267		1855	4084	5939	SO:0001589	frameshift_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87531267delT	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.3133delT	15.37:g.87531267delT	ENSP00000413001:p.Phe1046fs					AGBL1_ENST00000421325.2_Frame_Shift_Del_p.F1046fs|RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Frame_Shift_Del_p.F777fs	p.F1046fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			23	3228	+			1046					A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	ENST00000441037.2	37	c.3133delT	CCDS58398.1																																																																																				0.388	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		7	1106						7	1106	---	---	---	---	-	87531267	T	-	87531267	7	5	123	1	0	1	0	1	0	0	0	0	375	1609	56	0	3219	0	AGBL1	15	87531267	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	8603415	87531267	15000125	288	38474											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-													ggctgcaggtgaacaggaatTgctgctgctgctggagcccg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"	610886	"essential meiotic endonuclease 1 homolog 2 (S. pombe)"			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	740						7	740	---	---	---	---	-	1824300	TGC	-	1824298	7	5	123	1	0	1	0	1	0	0	0	0	5107	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-YB-A89D-01A-12D-A36O-08		1824298	88530455	289	38475											
TIGD7	91151	broad.mit.edu	37	chr16	3350485	3350485	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cttcttattttttttaatgtCataaaatgttgacttactga	4	5	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:3350485C>A	ENST00000396862.1	-	2	1958	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	44	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTTTTAATGTCATAAAATGTT	0.363																																						ENST00000396862.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(130-132)Gac>Tac		tigger transposable element derived 7							103	103	103					16																	3350485		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350485C>A	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.130G>T	16.37:g.3350485C>A	ENSP00000380071:p.Asp44Tyr					TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN			2	1958	-			44			HTH psq-type.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.130G>T	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117075	0.37339	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.46819	0.86;0.86	4.29	3.34	0.38264	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.36555	U	0.002540	T	0.45597	0.1350	N	0.19112	0.55	0.33142	D	0.544487	D	0.59767	0.986	P	0.61397	0.888	T	0.56908	-0.7901	10	0.54805	T	0.06	.	7.7276	0.28769	0.0:0.8858:0.0:0.1142	.	44	Q6NT04	TIGD7_HUMAN	Y	44	ENSP00000380071:D44Y;ENSP00000268674:D44Y	ENSP00000268674:D44Y	D	-	1	0	TIGD7	3290486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.816000	0.38992	1.028000	0.39785	0.655000	0.94253	GAC		0.363	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	NM_033208		10	660	1	0	6.40141e-05	6.40141e-05	0.00496729	10	660					A	3350485	C	A	3350485	3	1	123	1	0	0	0	0	1	0	0	0	15953	826	29	3	1523	3	TIGD7	16	3350485	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1526187	3350485	87004268	290	38476											
NOMO1	23420	broad.mit.edu	37	chr16	14980695	14980695	+	Frame_Shift_Del	DEL	C	C	-													cagtccctgttcttccatttCcccccactgctcagagacgg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:14980695delC	ENST00000287667.7	+	28	3471	c.3300delC	c.(3298-3300)ttcfs	p.F1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						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						TCTTCCATTTCCCCCCACTGC	0.473																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)ttfs		NODAL modulator 1							162	156	158					16																	14980695		2197	4300	6497	SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980695delC	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.3300delC	16.37:g.14980695delC	ENSP00000287667:p.Phe1100fs						p.F1100fs	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN			28	3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Del	DEL	ENST00000287667.7	37	c.3300delC	CCDS10556.1																																																																																				0.473	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			9	1592						9	1592	---	---	---	---	-	14980695	C	-	14980695	7	5	123	1	0	1	0	1	0	0	0	0	10573	854	30	0	3410	0	NOMO1	16	14980695	Frame_Shift_Del	DEL	C	TCGA-YB-A89D-01A-12D-A36O-08	11630210	14980695	75374058	291	38477											
TAOK2	8479	broad.mit.edu	37	chr16	30000991	30000991	+	IGR	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	cagtacaaggctctgcgagcAcacttgctggagaccacgcc	11	14	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30000991A>G	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.A770A	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						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						CTCTGCGAGCACACTTGCTGG	0.562																																						ENST00000279394.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2308-2310)gcA>gcG		TAO kinase 2							77	67	71					16																	30000991		2197	4300	6497	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30000991A>G	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		16.37:g.30000991A>G							p.A770A	NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN			17	2713	+			648					H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.2310A>G	CCDS10664.1																																																																																				0.562	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		41	188	0	0	0	2.86225e-05	0	41	188					G	30000991	A	G	30000991	1	3	123	0	1	0	0	0	0	0	0	0	15600	146	6	4		4	TAOK2	16	30000991	IGR	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	15020296	30000991	60353762	292	38478											
PHKG2	5261	broad.mit.edu	37	chr16	30762881	30762881	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	tctccctagtcaccctcatcGattcctacgagtcttctagc	5	16	5	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr16:30762881G>T	ENST00000563588.1	+	4	522	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	PHKG2_ENST00000328273.7_Missense_Mutation_p.D95Y|PHKG2_ENST00000424889.3_Missense_Mutation_p.D95Y|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	95	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)			CACCCTCATCGATTCCTACGA	0.557																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.(283-285)Gat>Tat		phosphorylase kinase, gamma 2 (testis)							517	461	480					16																	30762881		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762881G>T	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.283G>T	16.37:g.30762881G>T	ENSP00000455607:p.Asp95Tyr					PHKG2_ENST00000424889.3_Missense_Mutation_p.D95Y|PHKG2_ENST00000328273.7_Missense_Mutation_p.D95Y	p.D95Y	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		4	522	+			95			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.283G>T	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951782	0.73787	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.47177	0.85;0.85	5.16	4.2	0.49525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41294	D	0.000917	T	0.64494	0.2603	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67522	-0.5649	10	0.87932	D	0	-9.8352	12.6237	0.56618	0.0823:0.0:0.9177:0.0	.	95;95	P15735;P15735-2	PHKG2_HUMAN;.	Y	95	ENSP00000329968:D95Y;ENSP00000388571:D95Y	ENSP00000329968:D95Y	D	+	1	0	PHKG2	30670382	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.771000	0.98977	1.172000	0.42781	-0.140000	0.14226	GAT		0.557	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		17	1875	1	0	0.00010058	0.00010058	0.00856336	17	1875					T	30762881	G	T	30762881	3	4	123	1	0	0	0	0	1	0	0	0	11889	1058	37	3	293	3	PHKG2	16	30762881	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	761890	30762881	59591872	293	38479											
ORAI3	93129	broad.mit.edu	37	chr16	30960680	30960680	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	agggcgagagccctgcaggcTcggccacgtaccgggagttc	16	13	0	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30960680T>G	ENST00000318663.4	+	1	294	c.70T>G	c.(70-72)Tcg>Gcg	p.S24A	ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	24					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCCTGCAGGCTCGGCCACGTA	0.736																																						ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(70-72)Tcg>Gcg		ORAI calcium release-activated calcium modulator 3							5	7	6					16																	30960680		1997	4021	6018	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30960680T>G	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.70T>G	16.37:g.30960680T>G	ENSP00000322249:p.Ser24Ala					ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A	p.S24A	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			1	294	+			24					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.70T>G	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385910	0.42308	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.30981	1.51	5.34	4.22	0.49857	.	0.000000	0.43416	D	0.000562	T	0.15609	0.0376	N	0.19112	0.55	0.29807	N	0.831965	B	0.16603	0.018	B	0.16722	0.016	T	0.24404	-1.0161	10	0.10902	T	0.67	-5.3366	5.6272	0.17488	0.1518:0.0818:0.0:0.7664	.	24	Q9BRQ5	ORAI3_HUMAN	A	24	ENSP00000322249:S24A	ENSP00000322249:S24A	S	+	1	0	ORAI3	30868181	0.003000	0.15002	0.999000	0.59377	0.858000	0.48976	0.638000	0.24674	0.816000	0.34421	0.402000	0.26972	TCG		0.736	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		6	18	0	0	0	8.12818e-05	0	6	18					G	30960680	T	G	30960680	3	3	123	1	0	0	0	0	1	0	0	0	11301	1551	54	4	72	4	ORAI3	16	30960680	Missense_Mutation	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	197799	30960680	59394073	294	38480											
ABCC12	94160	broad.mit.edu	37	chr16	48149365	48149365	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	aggacgactgtctttcccctGagcgtcttcttaatgcactc	8	13	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:48149365G>T	ENST00000311303.3	-	13	2295	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L	ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S626*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	650	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)				TCTTTCCCCTGAGCGTCTTCT	0.607																																						ENST00000416054.1																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1876-1878)tCa>tAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							193	177	182					16																	48149365		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149365G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1950C>A	16.37:g.48149365G>T						ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000311303.3_Silent_p.L650L	p.S626*			Q96J65	MRP9_HUMAN			12	1882	-		all_cancers(37;0.0474)|all_lung(18;0.047)	0			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.1877C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711257	0.96821	.	.	ENSG00000140798	ENST00000416054	.	.	.	5.24	0.714	0.18180	.	.	.	.	.	.	.	.	.	.	.	0.47123	A	0.999322	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.794	0.03057	0.2309:0.2487:0.3932:0.1272	.	.	.	.	X	626	.	ENSP00000413046:S626X	S	-	2	0	ABCC12	46706866	0.000000	0.05858	0.903000	0.35520	0.535000	0.34838	-0.463000	0.06696	0.286000	0.22352	0.467000	0.42956	TCA		0.607	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		11	695	1	0	3.45872e-05	3.45872e-05	0.0032145	11	695					T	48149365	G	T	48149365	2	4	123	1	0	0	0	0	0	0	0	1	52	1277	45	3		3	ABCC12	16	48149365	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	17188685	48149365	42205388	295	38481											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-													gaggtcctgagggagaaggtGgaggaggaggaggaggccga					rs143282103		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN		13					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(22-27)gtg>gt		coiled-coil domain containing 135				27,4237		4,19,2109						4.4	1		dbSNP_134	66	47,8207		1,45,4081	no	coding	CCDC135	NM_032269.5		5,64,6190	A1A1,A1R,RR		0.5694,0.6332,0.5911				74,12444				SO:0001651	inframe_deletion	84229					cytoplasm		g.chr16:57731885_57731887delGGA																												ENST00000360716.3:c.24_26delGGA	16.37:g.57731894_57731896delGGA	ENSP00000353942:p.Glu13del					RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del	p.VE8del			Q8IY82	CC135_HUMAN			3	245_247	+			8					A8K943|Q8NAA0|Q9H080	In_Frame_Del	DEL	ENST00000360716.3	37	c.24_26delGGA	CCDS10787.1																																																																																				0.591	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	419						8	419	---	---	---	---	-	57731887	GGA	-	57731885	7	5	123	1	0	1	0	1	0	0	0	0	2776	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-YB-A89D-01A-12D-A36O-08	9582520	57731885	32622868	296	38482											
NAE1	8883	broad.mit.edu	37	chr16	66842917	66842917	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tcatccttgttaattgtatcCaaaccatattcttcagctaa	3	10	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:66842917C>A	ENST00000290810.3	-	16	1309	c.1212G>T	c.(1210-1212)ttG>ttT	p.L404F	NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000379463.2_Missense_Mutation_p.L398F			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	404					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TAATTGTATCCAAACCATATT	0.308																																						ENST00000379463.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1192-1194)ttG>ttT		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						88	83	84					16																	66842917		2200	4300	6500	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842917C>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1212G>T	16.37:g.66842917C>A	ENSP00000290810:p.Leu404Phe					NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000290810.3_Missense_Mutation_p.L404F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F	p.L398F	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	17	1386	-		Ovarian(137;0.0563)	404					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1194G>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753914	0.31046	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.14	3.2	0.36748	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.074073	0.56097	D	0.000034	T	0.31482	0.0798	N	0.25647	0.755	0.48975	D	0.999734	B;B;B	0.25609	0.002;0.065;0.13	B;B;B	0.23716	0.004;0.041;0.048	T	0.13791	-1.0496	10	0.51188	T	0.08	-11.51	7.5134	0.27587	0.0:0.7108:0.0:0.2892	.	407;404;398	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	F	407;404;398;315	ENSP00000351990:L407F;ENSP00000290810:L404F;ENSP00000368776:L398F;ENSP00000377637:L315F	ENSP00000290810:L404F	L	-	3	2	NAE1	65400418	0.997000	0.39634	0.983000	0.44433	0.906000	0.53458	0.839000	0.27586	1.167000	0.42706	0.650000	0.86243	TTG		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		8	557	1	0	3.09899e-07	1.12685e-05	4.20825e-05	8	557					A	66842917	C	A	66842917	3	1	123	1	0	0	0	0	1	0	0	0	10180	593	21	3	412	3	NAE1	16	66842917	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9111032	66842917	23511836	297	38483											
NFATC3	4775	broad.mit.edu	37	chr16	68208395	68208395	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tttcttccagaatccaaaatCatttttcttgaaaaaggaca	4	8	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:68208395C>A	ENST00000346183.3	+	6	1917	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	NFATC3_ENST00000349223.5_Silent_p.I631I|NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Silent_p.I631I	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	631					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)		AATCCAAAATCATTTTTCTTG	0.318																																						ENST00000349223.5																			0				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						c.(1891-1893)atC>atA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							122	130	127					16																	68208395		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68208395C>A	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.1893C>A	16.37:g.68208395C>A						NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I	p.I631I	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	6	2117	+		Ovarian(137;0.0563)	631					O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.1893C>A	CCDS10860.1																																																																																				0.318	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		14	826	1	0	1.3612e-06	2.31682e-05	0.000177925	14	826					A	68208395	C	A	68208395	2	1	123	1	0	0	0	0	0	0	0	1	10406	816	29	3		3	NFATC3	16	68208395	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1365478	68208395	22146358	298	38484											
NFAT5	10725	broad.mit.edu	37	chr16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-													aaaacacgttatctaatcaaCagcagcagcagcagcagcaa					rs369235958		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	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						ATCTAATcaacagcagcagcagc	0.473																																						ENST00000349945.1																			2	Substitution - coding silent(2)	p.Q804Q(1)|p.Q898Q(1)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2410-2412)del		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001651	inframe_deletion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726420_69726422delCAG	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.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del					NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del	p.Q812del	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3962_3964	+			888					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	ENST00000354436.2	37	c.2410_2412delCAG	CCDS10881.1																																																																																				0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		7	341						7	341	---	---	---	---	-	69726422	CAG	-	69726420	7	5	123	1	0	1	0	1	0	0	0	0	10402	479	17	0	2742	0	NFAT5	16	69726420	In_Frame_Del	DEL	CAG	TCGA-YB-A89D-01A-12D-A36O-08	1518025	69726420	20628333	299	38485											
PMFBP1	83449	broad.mit.edu	37	chr16	72174339	72174339	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tactgcaggccagcttatttCgaagttcttgaatgagatca	9	8	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:72174339C>A	ENST00000237353.10	-	6	1040	c.779G>T	c.(778-780)cGa>cTa	p.R260L	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R260L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	260						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)				CAGCTTATTTCGAAGTTCTTG	0.463																																						ENST00000537465.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(778-780)cGa>cTa		polyamine modulated factor 1 binding protein 1							320	309	313					16																	72174339		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72174339C>A	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.779G>T	16.37:g.72174339C>A	ENSP00000237353:p.Arg260Leu					PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R260L	p.R260L			Q8TBY8	PMFBP_HUMAN			6	937	-		Ovarian(137;0.179)	260					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.779G>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300024	0.81136	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.17691	2.3;2.31;2.26	5.65	4.7	0.59300	.	0.000000	0.43260	D	0.000597	T	0.25975	0.0633	N	0.24115	0.695	0.39237	D	0.96379	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.08310	-1.0728	10	0.66056	D	0.02	-13.1898	10.3026	0.43661	0.0:0.9122:0.0:0.0878	.	260;260;260	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	L	260;260;115	ENSP00000443817:R260L;ENSP00000237353:R260L;ENSP00000347854:R115L	ENSP00000237353:R260L	R	-	2	0	PMFBP1	70731840	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.347000	0.52200	1.621000	0.50320	0.655000	0.94253	CGA		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		13	1548	1	0	3.86212e-05	3.86212e-05	0.00332401	13	1548					A	72174339	C	A	72174339	3	1	123	1	0	0	0	0	1	0	0	0	12176	884	31	3	2368	3	PMFBP1	16	72174339	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2447919	72174339	18180414	300	38486											
PLCG2	5336	broad.mit.edu	37	chr16	81973662	81973662	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccccattaaagcagtcaaatCaggtaagaggcattttaatt	7	8	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:81973662C>A	ENST00000359376.3	+	30	3693	c.3479C>A	c.(3478-3480)tCa>tAa	p.S1160*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1160					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						GCAGTCAAATCAGGTAAGAGG	0.408																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3478-3480)tCa>tAa		phospholipase C, gamma 2 (phosphatidylinositol-specific)							100	94	96					16																	81973662		1869	4109	5978	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81973662C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3479C>A	16.37:g.81973662C>A	ENSP00000352336:p.Ser1160*						p.S1160*	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			30	3693	+			1160					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.3479C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	43	10.461882	0.99409	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.51	5.51	0.81932	.	0.065762	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	.	.	.	X	1160	.	ENSP00000352336:S1160X	S	+	2	0	PLCG2	80531163	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.487000	0.81328	2.600000	0.87896	0.655000	0.94253	TCA		0.408	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			10	611	1	0	1.58986e-06	3.86212e-05	0.000199287	10	611					A	81973662	C	A	81973662	4	1	123	1	0	0	0	0	0	1	0	0	12078	838	29	3	3593	3	PLCG2	16	81973662	Nonsense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9799323	81973662	8381091	301	38487											
DPH1	1801	broad.mit.edu	37	chr17	1943116	1943116	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	accccaatgtccccgcttacCggtatgggctgggccgggct	13	15	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:1943116C>A	ENST00000263083.6	+	7	808	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Splice_Site_p.R175R	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	255					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCCGCTTACCGGTATGGGCT	0.577																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.e7+1		diphthamide biosynthesis 1							90	97	94					17																	1943116		1994	4158	6152	SO:0001630	splice_region_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943116C>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"ovarian tumor suppressor candidate 1"	603527	"diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)", "DPH-like 1 (S. cerevisiae)", "DPH1 homolog (S. cerevisiae)"	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.764+1C>A	17.37:g.1943116C>A						DPH1_ENST00000570477.1_Splice_Site_p.R175_splice	p.R255_splice	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			7	808	+			255					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Splice_Site	SNP	ENST00000263083.6	37	c.764_splice	CCDS42228.1																																																																																				0.577	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383	Silent	8	497	1	0	2.17888e-05	2.17888e-05	0.00213033	8	497					A	1943116	C	A	1943116	5	1	123	1	0	0	0	0	0	0	1	0	4735	666	23	3	789	3	DPH1	17	1943116	Splice_Site	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		1943116	79252094	302	38488											
CHRNB1	1140	broad.mit.edu	37	chr17	7357666	7357668	+	In_Frame_Del	DEL	CTG	CTG	-													tgctgacccttactgtgttcCtgctgctgctggctgacaaa							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7357666_7357668delCTG	ENST00000306071.2	+	8	938_940	c.871_873delCTG	c.(871-873)ctgdel	p.L294del	CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron|CHRNB1_ENST00000575379.1_5'Flank	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	294					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)	TACTGTGTTCCTGCTGCTGCTGG	0.498																																						ENST00000306071.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23						c.(871-873)del		cholinergic receptor, nicotinic, beta 1 (muscle)																																				SO:0001651	inframe_deletion	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7357666_7357668delCTG	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.871_873delCTG	17.37:g.7357675_7357677delCTG	ENSP00000304290:p.Leu294del					CHRNB1_ENST00000536404.2_In_Frame_Del_p.L222del|CHRNB1_ENST00000576360.1_Intron	p.L294del	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN			8	938_940	+		Prostate(122;0.157)	294					B7Z5H1|Q8IZ46|Q96FB8	In_Frame_Del	DEL	ENST00000306071.2	37	c.871_873delCTG	CCDS11106.1																																																																																				0.498	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			10	770						10	770	---	---	---	---	-	7357668	CTG	-	7357666	7	5	123	1	0	1	0	1	0	0	0	0	3399	680	24	0	901	0	CHRNB1	17	7357666	In_Frame_Del	DEL	CTG	TCGA-YB-A89D-01A-12D-A36O-08	5414550	7357666	73837544	303	38489											
POLR2A	5430	broad.mit.edu	37	chr17	7405902	7405902	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtacgacgcgactgtgCggaactccatcaaccaggtg	12	11	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7405902C>T	ENST00000322644.6	+	16	3037	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	880					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCGACTGTGCGGAACTCCAT	0.567																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2638-2640)Cgg>Tgg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							102	89	93					17																	7405902		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405902C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2638C>T	17.37:g.7405902C>T	ENSP00000314949:p.Arg880Trp						p.R880W	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			16	3037	+		Prostate(122;0.173)	880					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2638C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240160	0.58995	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.74209	-0.82	5.82	0.84	0.18912	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94164	0.7417	10	0.87932	D	0	-8.9938	16.4899	0.84198	0.586:0.414:0.0:0.0	.	880	P24928	RPB1_HUMAN	W	836;880	ENSP00000314949:R880W	ENSP00000314949:R880W	R	+	1	2	SLC35G6	7346626	0.997000	0.39634	0.583000	0.28640	0.434000	0.31775	0.766000	0.26560	-0.013000	0.14199	-0.808000	0.03180	CGG		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		6	366	0	0	0	3.59834e-05	0	6	366					T	7405902	C	T	7405902	3	4	123	1	0	0	0	0	1	0	0	0	12256	759	27	1	2700	1	POLR2A	17	7405902	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	48236	7405902	73789308	304	38490											
MYH4	4622	broad.mit.edu	37	chr17	10357158	10357158	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agttggattttggttttaatCaactgatcacatctttcctc	6	8	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:10357158C>A	ENST00000255381.2	-	23	2846	c.2736G>T	c.(2734-2736)ttG>ttT	p.L912F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	912					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						TGGTTTTAATCAACTGATCAC	0.408																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2734-2736)ttG>ttT		myosin, heavy chain 4, skeletal muscle							286	264	271					17																	10357158		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357158C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2736G>T	17.37:g.10357158C>A	ENSP00000255381:p.Leu912Phe					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.L912F	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			23	2846	-			912						Missense_Mutation	SNP	ENST00000255381.2	37	c.2736G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402888	0.42613	.	.	ENSG00000141048	ENST00000255381	D	0.95412	-3.7	5.43	-1.39	0.08997	.	0.000000	0.30639	U	0.009189	D	0.98157	0.9391	H	0.98786	4.33	0.44289	D	0.997154	D	0.89917	1.0	D	0.83275	0.996	D	0.95774	0.8811	10	0.87932	D	0	.	7.1582	0.25649	0.0:0.4773:0.2067:0.316	.	912	Q9Y623	MYH4_HUMAN	F	912	ENSP00000255381:L912F	ENSP00000255381:L912F	L	-	3	2	MYH4	10297883	0.989000	0.36119	0.401000	0.26359	0.842000	0.47809	0.287000	0.18920	-0.112000	0.11979	-0.886000	0.02939	TTG		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		12	885	1	0	5.50884e-06	0.00010058	0.000617672	12	885					A	10357158	C	A	10357158	3	1	123	1	0	0	0	0	1	0	0	0	10078	825	29	3	3155	3	MYH4	17	10357158	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2951256	10357158	70838052	305	38491											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	11	13	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_ENST00000395837.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		9	417	0	0	0	9.31168e-06	0	9	417					G	16285497	A	G	16285497	2	3	123	1	0	0	0	0	0	0	0	1	16895	69	3	4		4	UBB	17	16285497	Silent	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	5928339	16285497	64909713	306	38492											
ZNF287	57336	broad.mit.edu	37	chr17	16456304	16456304	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gcatgggtactttggtgtttCaggagggatgggtatttcct	15	5	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:16456304C>A	ENST00000395824.1	-	6	1769	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ZNF287_ENST00000395825.3_Silent_p.L384L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	377					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)		TTTGGTGTTTCAGGAGGGATG	0.393																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1150-1152)ctG>ctT		zinc finger protein 287							158	148	151					17																	16456304		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456304C>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1152G>T	17.37:g.16456304C>A						ZNF287_ENST00000395825.3_Silent_p.L384L	p.L384L			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1769	-			377					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.1152G>T	CCDS11179.2																																																																																				0.393	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			10	726	1	0	6.40141e-05	6.40141e-05	0.00496729	10	726					A	16456304	C	A	16456304	2	1	123	1	0	0	0	0	0	0	0	1	17878	813	29	3		3	ZNF287	17	16456304	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	170807	16456304	64738906	307	38493											
RAI1	10743	broad.mit.edu	37	chr17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-													gaacctggtcttgcggagccGcagcagcagcagcagcaacg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				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)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	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.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		7	187						7	187	---	---	---	---	-	17699995	GCA	-	17699993	7	5	123	1	0	1	0	1	0	0	0	0	13057	1087	38	0	3733	0	RAI1	17	17699993	In_Frame_Del	DEL	GCA	TCGA-YB-A89D-01A-12D-A36O-08	1243689	17699993	63495217	308	38494											
SMCR7	125170	broad.mit.edu	37	chr17	18167206	18167206	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tggagctgcaggcctactttCggagcaagttcccggaactg	13	11	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:18167206C>A	ENST00000323019.4	+	4	704	c.493C>A	c.(493-495)Cgg>Agg	p.R165R	MIEF2_ENST00000395706.2_Silent_p.R176R|MIEF2_ENST00000395704.4_Nonsense_Mutation_p.S140*|MIEF2_ENST00000577216.1_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	165					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)											GGCCTACTTTCGGAGCAAGTT	0.672																																						ENST00000395704.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(418-420)tCg>tAg									30	30	30					17																	18167206		2202	4298	6500	SO:0001819	synonymous_variant	0					integral to membrane	protein binding	g.chr17:18167206C>A	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.493C>A	17.37:g.18167206C>A						SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Silent_p.R176R|SMCR7_ENST00000323019.4_Silent_p.R165R	p.S140*			Q96C03	SMCR7_HUMAN			4	567	+	all_neural(463;0.228)		21					J3KPT3|Q6ZRD4|Q96N07	Nonsense_Mutation	SNP	ENST00000323019.4	37	c.419C>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070652	0.55539	.	.	ENSG00000177427	ENST00000395704	.	.	.	5.32	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.9718	13.8672	0.63596	0.4861:0.5139:0.0:0.0	.	.	.	.	X	140	.	.	S	+	2	0	SMCR7	18107931	0.169000	0.23002	0.090000	0.20809	0.716000	0.41182	0.796000	0.26986	0.465000	0.27167	0.563000	0.77884	TCG		0.672	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		6	206	1	0	8.12818e-05	8.12818e-05	0.00618932	6	206					A	18167206	C	A	18167206	2	1	123	1	0	0	0	0	0	0	0	1	14840	893	31	3		3	SMCR7	17	18167206	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	467213	18167206	63028004	309	38495											
EVI2A	2123	broad.mit.edu	37	chr17	29645652	29645652	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccatgttgttgttgttttccGcacagacatcctttttgaaa	7	9	0	2	rs139943451		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:29645652G>A	ENST00000462804.2	-	2	779	c.380C>T	c.(379-381)gCg>gTg	p.A127V	EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.A150V|NF1_ENST00000358273.4_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|NF1_ENST00000581113.2_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	127					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTTTTCCGCACAGACATC	0.358																																						ENST00000247270.3																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(448-450)gCg>gTg		ecotropic viral integration site 2A		G	,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	123	123	123		,449,,380	-0.6	1	17	dbSNP_134	123	0,8600		0,0,4300	yes	intron,missense,intron,missense	EVI2A,NF1	NM_000267.3,NM_001003927.2,NM_001042492.2,NM_014210.3	,64,,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign,,benign	,150/260,,127/237	29645652	2,13004	2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645652G>A	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.380C>T	17.37:g.29645652G>A	ENSP00000420557:p.Ala127Val					NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|EVI2A_ENST00000462804.2_Missense_Mutation_p.A127V|EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.A150V	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	785	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	127					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.449C>T	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794693	0.31777	4.54E-4	0.0	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	-0.577	0.11727	.	0.306449	0.31909	N	0.006869	T	0.27454	0.0674	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.03473	-1.1033	9	0.30854	T	0.27	.	10.2437	0.43328	0.1006:0.0:0.3206:0.5788	.	127;150	P22794;P22794-2	EVI2A_HUMAN;.	V	127;123;127;150	.	ENSP00000247270:A150V	A	-	2	0	EVI2A	26669778	0.978000	0.34361	0.957000	0.39632	0.939000	0.58152	1.120000	0.31271	-0.427000	0.07350	-2.232000	0.00291	GCG		0.358	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	NM_014210		8	836	0	0	0	1.12685e-05	0	8	836					A	29645652	G	A	29645652	3	1	123	1	0	0	0	0	1	0	0	0	5305	1087	38	1	334	1	EVI2A	17	29645652	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	11478446	29645652	51549558	310	38496											
SYNRG	11276	broad.mit.edu	37	chr17	35902213	35902213	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgaaactctccaaagtcatcCgaacattcgttcggggtttc	8	11	2	1	rs370791933		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:35902213C>A	ENST00000339208.6	-	15	3203	c.3063G>T	c.(3061-3063)tcG>tcT	p.S1021S	SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000345615.4_Silent_p.S943S|SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000591288.1_Silent_p.S815S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1021					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						CAAAGTCATCCGAACATTCGT	0.483																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3061-3063)tcG>tcT		synergin, gamma							85	90	89					17																	35902213		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902213C>A	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.3063G>T	17.37:g.35902213C>A						SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000591288.1_Silent_p.S815S|SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000345615.4_Silent_p.S943S	p.S1021S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			15	3203	-			1021					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3063G>T	CCDS11321.1																																																																																				0.483	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		10	673	1	0	2.17888e-05	2.17888e-05	0.00213033	10	673					A	35902213	C	A	35902213	2	1	123	1	0	0	0	0	0	0	0	1	15512	639	23	3		3	SYNRG	17	35902213	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6256561	35902213	45292997	311	38497											
KRT24	192666	broad.mit.edu	37	chr17	38856558	38856558	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgtcattcagtaatttGgtcaggtcggtccctggcgc	11	11	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr17:38856558G>T	ENST00000264651.2	-	4	989	c.933C>A	c.(931-933)acC>acA	p.T311T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	311	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)				TCAGTAATTTGGTCAGGTCGG	0.517																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(931-933)acC>acA		keratin 24							205	211	209					17																	38856558		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38856558G>T		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.933C>A	17.37:g.38856558G>T							p.T311T	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			4	989	-		Breast(137;0.00526)	311			Linker 12.|Rod.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.933C>A	CCDS11372.1																																																																																				0.517	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		12	1424	1	0	1.58986e-06	3.86212e-05	0.000286764	12	1424					T	38856558	G	T	38856558	2	4	123	1	0	0	0	0	0	0	0	1	8491	1335	47	3		3	KRT24	17	38856558	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2954345	38856558	42338652	312	38498											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254013	39254013	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	cagcactggggcttgcagcaGctggacacacagcagctggg	15	12	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:39254013G>C	ENST00000333822.4	-	1	380	c.324C>G	c.(322-324)agC>agG	p.S108R		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	108	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S108R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						gcttgcagcagctggacacac	0.662																																						ENST00000333822.4																			1	Substitution - Missense(1)	p.S108R(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(322-324)agC>agG		keratin associated protein 4-8							4	6	6					17																	39254013		638	1500	2138	SO:0001583	missense	728224					keratin filament		g.chr17:39254013G>C	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"Keratin associated proteins"	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.324C>G	17.37:g.39254013G>C	ENSP00000328444:p.Ser108Arg						p.S108R	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	380	-			108			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.324C>G	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264696	0.59431	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00646	6.0	3.21	1.14	0.20703	.	2.295710	0.03395	U	0.202429	T	0.01695	0.0054	M	0.89287	3.02	0.27072	N	0.963304	B	0.34349	0.45	B	0.34093	0.175	T	0.47195	-0.9136	10	0.52906	T	0.07	.	5.4866	0.16753	0.2737:0.0:0.7263:0.0	.	108	Q9BYQ9	KRA48_HUMAN	R	108;93	ENSP00000328444:S108R	ENSP00000414561:S93R	S	-	3	2	KRTAP4-8	36507539	1.000000	0.71417	0.752000	0.31206	0.989000	0.77384	3.228000	0.51270	0.201000	0.20466	0.449000	0.29647	AGC		0.662	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		4	136	0	0	0	1.49906e-05	0	4	136					C	39254013	G	C	39254013	3	2	123	1	0	0	0	0	1	0	0	0	8587	962	34	5	237	5	KRTAP4-8	17	39254013	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	397455	39254013	41941197	313	38499											
HAP1	9001	broad.mit.edu	37	chr17	39880981	39880981	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acgacgatctgcagcttgtcCggctggcggcagggagggcc	17	12	1	0	rs147264849	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:39880981C>A	ENST00000310778.5	-	12	1997	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	HAP1_ENST00000347901.4_Missense_Mutation_p.R611L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|HAP1_ENST00000393939.2_Missense_Mutation_p.R586L|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	663					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCAGCTTGTCCGGCTGGCGGC	0.617																																						ENST00000393939.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1756-1758)cGg>cTg		huntingtin-associated protein 1							78	90	86					17																	39880981		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39880981C>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1988G>T	17.37:g.39880981C>A	ENSP00000309392:p.Arg663Leu					HAP1_ENST00000310778.5_Missense_Mutation_p.R663L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.R611L	p.R586L			P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1766	-		Breast(137;0.000162)	663			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1757G>T		.	.	.	.	.	.	.	.	.	.	C	4.467	0.086539	0.08583	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.05925	3.37;3.63;3.5;3.38	3.87	-3.79	0.04320	.	3.455040	0.00822	N	0.001599	T	0.03011	0.0089	N	0.03608	-0.345	0.19945	N	0.999941	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40627	-0.9553	10	0.44086	T	0.13	-0.0494	4.4024	0.11393	0.1562:0.3476:0.0:0.4962	.	586;594;611;663	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	586;663;611;594	ENSP00000377513:R586L;ENSP00000309392:R663L;ENSP00000334002:R611L;ENSP00000343170:R594L	ENSP00000309392:R663L	R	-	2	0	HAP1	37134507	0.007000	0.16637	0.087000	0.20705	0.043000	0.13939	-2.788000	0.00768	-0.824000	0.04295	-1.337000	0.01257	CGG		0.617	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		9	810	1	0	0.00010058	0.00010058	0.0072096	9	810					A	39880981	C	A	39880981	3	1	123	1	0	0	0	0	1	0	0	0	6983	652	23	3	31	3	HAP1	17	39880981	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	626968	39880981	41314229	314	38500											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843855	40843855	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aacaccatttccttccacacCggggctgcactacgcttccc	6	18	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:40843855C>A	ENST00000264638.4	+	16	2593	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	792	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)		CCTTCCACACCGGGGCTGCAC	0.552																																						ENST00000264638.4																			0				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						c.(2374-2376)acC>acA		contactin associated protein 1							251	257	255					17																	40843855		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843855C>A	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.2376C>A	17.37:g.40843855C>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.T792T	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2593	+		Breast(137;0.000143)	792			Fibrinogen C-terminal.			Silent	SNP	ENST00000264638.4	37	c.2376C>A	CCDS11436.1																																																																																				0.552	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		12	1614	1	0	0.000157383	0.000157383	0.00973904	12	1614					A	40843855	C	A	40843855	2	1	123	1	0	0	0	0	0	0	0	1	3655	639	23	3		3	CNTNAP1	17	40843855	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	962874	40843855	40351355	315	38501											
AARSD1	100885848	broad.mit.edu	37	chr17	41122314	41122314	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggctttacttacatccaaatCatccatggcaggtggaggtc	10	10	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:41122314C>A	ENST00000453594.1	-	5	799	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D124Y|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.D185Y|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D185Y|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D147Y|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D94Y	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	152	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.							p.D124N(1)									ACATCCAAATCATCCATGGCA	0.453																																						ENST00000421990.2																			1	Substitution - Missense(1)	p.D124N(1)	lung(1)								c.(553-555)Gat>Tat									286	290	289					17																	41122314		2203	4300	6503	SO:0001583	missense	0							g.chr17:41122314C>A		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.454G>T	17.37:g.41122314C>A	ENSP00000394415:p.Asp152Tyr					PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D94Y|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D185Y|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D124Y|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D147Y|PTGES3L_ENST00000453594.1_Missense_Mutation_p.D152Y	p.D185Y	NM_001136042.2	NP_001129514.2					6	898	-									Missense_Mutation	SNP	ENST00000453594.1	37	c.553G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.2|20.2|20.2	3.958164|3.958164|3.958164	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000108825|ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000453594;ENST00000409446|ENST00000424284|ENST00000452752	T;T;T;T|.|.	0.72282|.|.	-0.64;-0.64;-0.64;-0.64|.|.	5.15|5.15|5.15	5.15|5.15|5.15	0.70609|0.70609|0.70609	.|.|.	0.154247|.|.	0.45126|.|.	D|.|.	0.000395|.|.	T|T|.	0.61173|0.61173|.	0.2326|0.2326|.	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	.|.|.	.|.|.	.|.|.	D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;0.998;1.0;1.0|.|.	D;D;D;D;D|.|.	0.76575|.|.	0.988;0.988;0.948;0.977;0.977|.|.	T|T|.	0.56854|0.56854|.	-0.7910|-0.7910|.	9|4|.	0.52906|.|.	T|.|.	0.07|.|.	-25.4221|-25.4221|-25.4221	18.835|18.835|18.835	0.92159|0.92159|0.92159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	152;147;185;94;142|.|.	E9PB15;B9A003;B4DI73;C9J5N1;B3KSP9|.|.	.;.;.;.;.|.|.	Y|I|L	124;185;185;94;124;152;147|113|113	ENSP00000353355:D124Y;ENSP00000386621:D185Y;ENSP00000409924:D185Y;ENSP00000386254:D94Y|.|.	ENSP00000353355:D124Y|.|.	D|M|X	-|-|-	1|3|2	0|0|2	AARSD1|AARSD1|AARSD1	38375840|38375840|38375840	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.886000|0.886000|0.886000	0.51366|0.51366|0.51366	5.206000|5.206000|5.206000	0.65192|0.65192|0.65192	2.674000|2.674000|2.674000	0.91012|0.91012|0.91012	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|ATG|TGA		0.453	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		22	1397	1	0	0.000151284	0.000151284	0.00973904	22	1397					A	41122314	C	A	41122314	3	1	123	1	0	0	0	0	1	0	0	0	21	826	29	3	1298	3	AARSD1	17	41122314	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	278459	41122314	40072896	316	38502											
TRIM25	7706	broad.mit.edu	37	chr17	54972919	54972919	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tttaaatccactaactgttcCggggctccaaacgtgggaag	10	10	0	0	rs145816750	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:54972919C>A	ENST00000316881.4	-	7	1276	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	TRIM25_ENST00000537230.1_Silent_p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	409	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)					CTAACTGTTCCGGGGCTCCAA	0.517																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1225-1227)ccG>ccT		tripartite motif containing 25							129	131	130					17																	54972919		2203	4300	6503	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54972919C>A	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.1227G>T	17.37:g.54972919C>A						TRIM25_ENST00000537230.1_Silent_p.P409P	p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			7	1276	-	Breast(9;6.15e-08)		409			Interaction with influenza A virus NS1.			Silent	SNP	ENST00000316881.4	37	c.1227G>T	CCDS11591.1																																																																																				0.517	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		11	697	1	0	6.40141e-05	6.40141e-05	0.00496729	11	697					A	54972919	C	A	54972919	2	1	123	1	0	0	0	0	0	0	0	1	16552	639	23	3		3	TRIM25	17	54972919	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	13850605	54972919	26222291	317	38503											
NACA2	342538	broad.mit.edu	37	chr17	59668349	59668349	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ccgactctgttttgctttacCgactggttcttcatcaattt	6	11	4	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:59668349C>A	ENST00000521764.1	-	1	214	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGCTTTACCGACTGGTTCT	0.483																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(193-195)Ggt>Tgt		nascent polypeptide-associated complex alpha subunit 2							188	171	177					17																	59668349		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668349C>A	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.193G>T	17.37:g.59668349C>A	ENSP00000427802:p.Gly65Cys						p.G65C	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	214	-	all_epithelial(1;3.12e-14)		65					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.193G>T	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508495	0.44660	.	.	ENSG00000253506	ENST00000521764	T	0.45276	0.9	0.753	-0.473	0.12112	.	0.000000	0.85682	U	0.000000	T	0.16896	0.0406	N	0.08118	0	0.21220	N	0.999753	B	0.24317	0.101	B	0.24269	0.052	T	0.19321	-1.0309	9	.	.	.	.	5.1442	0.14975	0.0:0.4225:0.0:0.5775	.	65	Q9H009	NACA2_HUMAN	C	65	ENSP00000427802:G65C	.	G	-	1	0	NACA2	57023131	1.000000	0.71417	0.972000	0.41901	0.763000	0.43281	2.566000	0.45948	-0.880000	0.03997	-0.684000	0.03749	GGT		0.483	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		12	837	1	0	0.000151284	0.000151284	0.00973904	12	837					A	59668349	C	A	59668349	3	1	123	1	0	0	0	0	1	0	0	0	10175	652	23	3	458	3	NACA2	17	59668349	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	4695430	59668349	21526861	318	38504											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856801	62856801	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ccggtttttgcctacagtttGaatctttgccaggctgtttc	9	10	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:62856801G>T	ENST00000584306.1	-	11	3993	c.3463C>A	c.(3463-3465)Caa>Aaa	p.Q1155K	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1155						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						CCTACAGTTTGAATCTTTGCC	0.453																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3463-3465)Caa>Aaa		leucine rich repeat containing 37, member A3							122	126	125					17																	62856801		2203	4300	6503	SO:0001583	missense	374819					integral to membrane		g.chr17:62856801G>T	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.3463C>A	17.37:g.62856801G>T	ENSP00000464535:p.Gln1155Lys					LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K	p.Q1155K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	3993	-			1155					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3463C>A	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	4.865	0.160854	0.09287	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59502	1.5;1.5;0.26	2.23	-4.47	0.03525	.	.	.	.	.	T	0.39489	0.1080	L	0.43152	1.355	0.09310	N	1	B;P	0.38504	0.062;0.634	B;B	0.30105	0.039;0.111	T	0.28713	-1.0035	9	0.66056	D	0.02	.	7.1104	0.25386	0.1462:0.6419:0.2119:0.0	.	273;1155	B4DG20;O60309	.;L37A3_HUMAN	K	236;193;132;1155	ENSP00000383674:Q193K;ENSP00000335617:Q132K;ENSP00000325713:Q1155K	ENSP00000325713:Q1155K	Q	-	1	0	LRRC37A3	60287263	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.705000	0.01896	-0.797000	0.04450	-0.735000	0.03563	CAA		0.453	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		12	936	1	0	3.86212e-05	3.86212e-05	0.00332401	12	936					T	62856801	G	T	62856801	3	4	123	1	0	0	0	0	1	0	0	0	9031	1299	45	3	1457	3	LRRC37A3	17	62856801	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3188452	62856801	18338409	319	38505											
TXNDC2	84203	broad.mit.edu	37	chr18	9887463	9887463	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	cagcccaaggagggtgacatCcccaagtccctagaggaagc	12	13	0	2	rs111251988		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:9887463C>T	ENST00000306084.6	+	2	1186	c.987C>T	c.(985-987)atC>atT	p.I329I	TXNDC2_ENST00000357775.5_Silent_p.I262I|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	329	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						AGGGTGACATCCCCAAGTCCC	0.592																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(985-987)atC>atT		thioredoxin domain containing 2 (spermatozoa)							138	131	133					18																	9887463		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887463C>T	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.987C>T	18.37:g.9887463C>T						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I262I	p.I329I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1186	+			329			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.987C>T	CCDS42414.1																																																																																				0.592	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			8	476	0	0	0	0.000157383	0	8	476					T	9887463	C	T	9887463	2	4	123	1	0	0	0	0	0	0	0	1	16851	845	30	2		2	TXNDC2	18	9887463	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		9887463	68189785	320	38506											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745096	21745097	+	Frame_Shift_Ins	INS	-	-	T													ctttgtttttcctcaagtcgINSttttttttcttcactagctt					rs370244500		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:21745096_21745097insT	ENST00000319481.3	-	27	2888_2889	c.2682_2683insA	c.(2680-2685)aaacgafs	p.R895fs	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.R382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.R513fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	895					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)					TCCTCAAGTCGTTTTTTTTCTT	0.46																																						ENST00000319481.3																			0				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						c.(2680-2685)aagactfs		oxysterol binding protein-like 1A																																				SO:0001589	frameshift_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745096_21745097insT	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.2683dupA	18.37:g.21745104_21745104dupT	ENSP00000320291:p.Arg895fs					OSBPL1A_ENST00000399443.3_Frame_Shift_Ins_p.T382fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Ins_p.T513fs	p.T895fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			27	2888_2889	-	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)		895					B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Ins	INS	ENST00000319481.3	37	c.2682_2683insA	CCDS11884.1																																																																																				0.46	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		8	975						8	975	---	---	---	---	T	21745097	-	T	21745096	7	5	123	1	0	1	1	0	0	0	0	0	11319	1153	40	0	177	0	OSBPL1A	18	21745096	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	11857633	21745096	56332152	321	38507											
DSC3	1825	broad.mit.edu	37	chr18	28581674	28581674	+	Frame_Shift_Del	DEL	A	A	-													cgtttccctttagttgcaccAaaaactccacatactaaagt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr18:28581674delA	ENST00000360428.4	-	14	2225	c.2145delT	c.(2143-2145)tttfs	p.F715fs	DSC3_ENST00000434452.1_Frame_Shift_Del_p.F715fs	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	715					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)			TAGTTGCACCAAAAACTCCAC	0.289																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2143-2145)ttfs		desmocollin 3							80	83	82					18																	28581674		2203	4297	6500	SO:0001589	frameshift_variant	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28581674delA	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.2145delT	18.37:g.28581674delA	ENSP00000353608:p.Phe715fs					DSC3_ENST00000360428.4_Frame_Shift_Del_p.F715fs	p.F715fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		14	2299	-			715					A6NN35|Q14200|Q9HAZ9	Frame_Shift_Del	DEL	ENST00000360428.4	37	c.2145delT	CCDS32810.1																																																																																				0.289	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		7	875						7	875	---	---	---	---	-	28581674	A	-	28581674	7	5	123	1	0	1	0	1	0	0	0	0	4783	127	5	0	588	0	DSC3	18	28581674	Frame_Shift_Del	DEL	A	TCGA-YB-A89D-01A-12D-A36O-08	6836578	28581674	49495574	322	38508											
SKA1	220134	broad.mit.edu	37	chr18	47918506	47918506	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaagctgacataaaggagttCacaactttgaaagctgacaa	9	7	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:47918506C>A	ENST00000285116.3	+	7	868	c.657C>A	c.(655-657)ttC>ttA	p.F219L	SKA1_ENST00000488454.1_Missense_Mutation_p.F68L|SKA1_ENST00000398452.2_Missense_Mutation_p.F219L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	219					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TAAAGGAGTTCACAACTTTGA	0.378																																						ENST00000285116.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(655-657)ttC>ttA		spindle and kinetochore associated complex subunit 1							91	94	93					18																	47918506		2203	4300	6503	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47918506C>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 24"	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.657C>A	18.37:g.47918506C>A	ENSP00000285116:p.Phe219Leu					SKA1_ENST00000398452.2_Missense_Mutation_p.F219L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L|SKA1_ENST00000488454.1_Missense_Mutation_p.F68L	p.F219L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN			7	868	+			219					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.657C>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598148	0.66332	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.37752	1.18;1.18;1.18	6.04	5.18	0.71444	.	0.046452	0.85682	D	0.000000	T	0.47820	0.1466	L	0.61036	1.89	0.45762	D	0.998652	P;P	0.48089	0.884;0.905	P;P	0.54401	0.507;0.751	T	0.49254	-0.8959	10	0.62326	D	0.03	.	9.4762	0.38873	0.0:0.8409:0.0:0.1591	.	173;219	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	L	219;173;219	ENSP00000285116:F219L;ENSP00000397222:F173L;ENSP00000381470:F219L	ENSP00000285116:F219L	F	+	3	2	SKA1	46172504	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.222000	0.32515	1.568000	0.49683	0.563000	0.77884	TTC		0.378	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		9	508	1	0	0.00010058	0.00010058	0.0072096	9	508					A	47918506	C	A	47918506	3	1	123	1	0	0	0	0	1	0	0	0	14402	825	29	3	679	3	SKA1	18	47918506	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	19336832	47918506	30158742	323	38509											
SMAD4	4089	broad.mit.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	12	9	2	1	rs80338963		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(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)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3																			43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(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	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179	149	159					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	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.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	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	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		81	286	0	0	0	0.000147903	0	81	286					T	48591918	C	T	48591918	3	4	123	1	0	0	0	0	1	0	0	0	14810	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	673412	48591918	29485330	324	38510											
C18orf55	29090	broad.mit.edu	37	chr18	71822391	71822391	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacagtgaaagaagccGgaagagattttacctattta	8	7	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:71822391G>T	ENST00000169551.6	+	2	611	c.313G>T	c.(313-315)Gga>Tga	p.G105*	TIMM21_ENST00000580087.1_Nonsense_Mutation_p.G105*	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	105					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											GAAAGAAGCCGGAAGAGATTT	0.428																																						ENST00000580087.1																			0											c.(313-315)Gga>Tga		translocase of inner mitochondrial membrane 21 homolog (yeast)							97	104	102					18																	71822391		2203	4300	6503	SO:0001587	stop_gained	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71822391G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"chromosome 18 open reading frame 55"	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.313G>T	18.37:g.71822391G>T	ENSP00000169551:p.Gly105*					TIMM21_ENST00000169551.6_Nonsense_Mutation_p.G105*	p.G105*			Q9BVV7	TI21L_HUMAN			2	599	+			105					Q9P010	Nonsense_Mutation	SNP	ENST00000169551.6	37	c.313G>T	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	40	8.413223	0.98801	.	.	ENSG00000075336	ENST00000169551	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-28.1893	18.8678	0.92300	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000169551:G105X	G	+	1	0	C18orf55	69973371	1.000000	0.71417	0.983000	0.44433	0.944000	0.59088	9.260000	0.95568	2.532000	0.85374	0.650000	0.86243	GGA		0.428	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		7	495	1	0	2.17888e-05	2.17888e-05	0.00213033	7	495					T	71822391	G	T	71822391	4	4	123	1	0	0	0	0	0	1	0	0	1912	1117	39	3	319	3	C18orf55	18	71822391	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	23230473	71822391	6254857	325	38511											
ABCA7	10347	broad.mit.edu	37	chr19	1045184	1045184	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacgtgcgcatcaaaatcCgcatggacattgacgtggtc	11	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1045184C>A	ENST00000263094.6	+	12	1630	c.1399C>A	c.(1399-1401)Cgc>Agc	p.R467S	ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S|ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	467					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)		CATCAAAATCCGCATGGACAT	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1399-1401)Cgc>Agc		ATP-binding cassette, sub-family A (ABC1), member 7							43	44	44					19																	1045184		2202	4299	6501	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045184C>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1399C>A	19.37:g.1045184C>A	ENSP00000263094:p.Arg467Ser					ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S|ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S	p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1630	+		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)	467					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1399C>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592794	0.86953	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.98762	-5.12;-5.12	4.66	4.66	0.58398	.	.	.	.	.	D	0.99108	0.9693	M	0.85630	2.765	0.40486	D	0.980498	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99869	1.1093	9	0.87932	D	0	.	15.007	0.71519	0.0:1.0:0.0:0.0	.	329;467	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	467	ENSP00000263094:R467S;ENSP00000414062:R467S	ENSP00000263094:R467S	R	+	1	0	ABCA7	996184	0.996000	0.38824	1.000000	0.80357	0.911000	0.54048	3.113000	0.50376	2.118000	0.64928	0.462000	0.41574	CGC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		8	565	1	0	3.86212e-05	3.86212e-05	0.00332401	8	565					A	1045184	C	A	1045184	3	1	123	1	0	0	0	0	1	0	0	0	37	652	23	3	1441	3	ABCA7	19	1045184	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		1045184	58083799	326	38512											
MUM1	84939	broad.mit.edu	37	chr19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gttttaaatgtaggttttggCccgaaccgcgacttcaacaa	9	9	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1357015C>T	ENST00000415183.3	+	2	94	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.A23V			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					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)		TAGGTTTTGGCCCGAACCGCG	0.368																																						ENST00000344663.3																			0				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						c.(67-69)gCc>gTc		melanoma associated antigen (mutated) 1							116	109	112					19																	1357015		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1357015C>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.68C>T	19.37:g.1357015C>T	ENSP00000394925:p.Ala23Val					MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000415183.3_Missense_Mutation_p.A23V|MUM1_ENST00000591806.1_Missense_Mutation_p.A23V	p.A23V			Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	169	+		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)	22					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.035798	0.35893	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.34072	1.38;1.38	5.2	1.58	0.23477	.	0.431802	0.21489	N	0.073707	T	0.34513	0.0900	L	0.55481	1.735	0.18873	N	0.999988	B;D	0.53151	0.319;0.958	B;P	0.47827	0.096;0.558	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.3598	0.16081	0.349:0.5509:0.0:0.1	.	23;22	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	23;49;23	ENSP00000345789:A23V;ENSP00000394925:A23V	ENSP00000345789:A23V	A	+	2	0	MUM1	1308015	0.026000	0.19158	0.128000	0.21923	0.067000	0.16453	0.698000	0.25571	0.185000	0.20105	0.655000	0.94253	GCC		0.368	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	NM_032853		6	340	0	0	0	0.000157383	0	6	340					T	1357015	C	T	1357015	3	4	123	1	0	0	0	0	1	0	0	0	10026	739	26	2	74	2	MUM1	19	1357015	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	311831	1357015	57771968	327	38513											
DAZAP1	26528	broad.mit.edu	37	chr19	1425903	1425903	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gatttattactttcgaggacGaacaatcagtggaccaggct	10	8	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:1425903G>T	ENST00000233078.4	+	7	651	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000336761.6_Nonsense_Mutation_p.E164*	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	164	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCGAGGACGAACAATCAGT	0.413																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(490-492)Gaa>Taa		DAZ associated protein 1							288	247	261					19																	1425903		2203	4300	6503	SO:0001587	stop_gained	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1425903G>T		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.490G>T	19.37:g.1425903G>T	ENSP00000233078:p.Glu164*					DAZAP1_ENST00000586579.1_Intron|DAZAP1_ENST00000233078.4_Nonsense_Mutation_p.E164*	p.E164*	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	695	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	164			RRM 2.		Q96MJ3|Q9NRR9	Nonsense_Mutation	SNP	ENST00000233078.4	37	c.490G>T	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	G	37	6.588409	0.97688	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	.	.	.	4.26	3.13	0.36017	.	0.050284	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.8595	0.57906	0.0:0.1646:0.8353:0.0	.	.	.	.	X	164	.	ENSP00000233078:E164X	E	+	1	0	DAZAP1	1376903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.085000	0.62840	0.655000	0.94253	GAA		0.413	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		24	920	1	0	7.16444e-05	7.16444e-05	0.00670977	24	920					T	1425903	G	T	1425903	4	4	123	1	0	0	0	0	0	1	0	0	4255	1059	37	3	516	3	DAZAP1	19	1425903	Nonsense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	68888	1425903	57703080	328	38514											
TMEM146	257062	broad.mit.edu	37	chr19	5748182	5748182	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	acctcctaggtcagctcgtcGacaccgtccgggtgaaaaaa	10	13	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:5748182G>T	ENST00000381624.3	+	10	881	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	274					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)											TCAGCTCGTCGACACCGTCCG	0.547																																						ENST00000381624.3																			0											c.(820-822)Gac>Tac		catsper channel auxiliary subunit delta							90	96	94					19																	5748182		1995	4159	6154	SO:0001583	missense	257062					integral to membrane		g.chr19:5748182G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.820G>T	19.37:g.5748182G>T	ENSP00000371037:p.Asp274Tyr					CATSPERD_ENST00000381614.2_5'UTR	p.D274Y	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			10	881	+			274					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.820G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050834	0.19827	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.23552	1.9	3.0	-6.0	0.02206	.	2.349280	0.02331	N	0.073899	T	0.14270	0.0345	L	0.27053	0.805	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.08764	-1.0706	10	0.49607	T	0.09	-2.0981	0.5168	0.00605	0.3854:0.13:0.2226:0.262	.	274	Q86XM0	TM146_HUMAN	Y	200;274	ENSP00000371037:D274Y	ENSP00000371037:D274Y	D	+	1	0	TMEM146	5699182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.579000	0.05834	-1.819000	0.01216	-0.181000	0.13052	GAC		0.547	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		10	381	1	0	5.50884e-06	0.00010058	0.000617672	10	381					T	5748182	G	T	5748182	3	4	123	1	0	0	0	0	1	0	0	0	16112	1058	37	3	858	3	TMEM146	19	5748182	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4322279	5748182	53380801	329	38515											
TRIP10	9322	broad.mit.edu	37	chr19	6750327	6750327	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggctggcagaagctgaaagtCgagtccttagcaaccgggga	15	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:6750327C>A	ENST00000313244.9	+	13	1455	c.1420C>A	c.(1420-1422)Cga>Aga	p.R474R	TRIP10_ENST00000600428.1_Silent_p.R310R|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.R418R|TRIP10_ENST00000313285.8_Silent_p.R418R			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	474	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				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)	p.R418G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGCTGAAAGTCGAGTCCTTAG	0.667																																						ENST00000600428.1																			1	Substitution - Missense(1)	p.R418G(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(928-930)Cga>Aga		thyroid hormone receptor interactor 10							55	64	61					19																	6750327		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750327C>A	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.1420C>A	19.37:g.6750327C>A						TRIP10_ENST00000313244.9_Silent_p.R474R|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Silent_p.R418R|TRIP10_ENST00000596758.1_Silent_p.R418R	p.R310R			Q15642	CIP4_HUMAN			12	1574	+			474	L -> P (in Ref. 2; AAK77492).		Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.928C>A																																																																																					0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			7	552	1	0	0.000157383	0.000157383	0.00973904	7	552					A	6750327	C	A	6750327	2	1	123	1	0	0	0	0	0	0	0	1	16607	876	31	3		3	TRIP10	19	6750327	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1002145	6750327	52378656	330	38516											
ZNF557	79230	broad.mit.edu	37	chr19	7082034	7082034	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ctcctaagctgcatgtttttCgaaaagaacaatctagaaat	6	8	1	2	rs201136508		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000414706.1_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	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)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000414706.1																			0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(397-399)Cga>Aga		zinc finger protein 557							82	81	82					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	19.37:g.7082034C>A						ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000439035.2_Silent_p.R126R	p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN		Lung(535;0.179)	7	870	+			126					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.397C>A	CCDS45945.1																																																																																				0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	NM_024341		10	487	1	0	0.00010058	0.00010058	0.0072096	10	487					A	7082034	C	A	7082034	2	1	123	1	0	0	0	0	0	0	0	1	18041	876	31	3		3	ZNF557	19	7082034	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	331707	7082034	52046949	331	38517											
OR7G3	390883	broad.mit.edu	37	chr19	9237378	9237378	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgagcctgtgcctggatgttCaccagcatcttgggcatcgt	12	11	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:9237378C>A	ENST00000305444.2	-	1	248	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	83						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)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTGGATGTTCACCAGCATCT	0.502																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(247-249)gtG>gtT		olfactory receptor, family 7, subfamily G, member 3							151	125	134					19																	9237378		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237378C>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"GPCR / Class A : Olfactory receptors"	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.249G>T	19.37:g.9237378C>A							p.V83V	NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN			1	248	-			83					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.249G>T	CCDS32899.1																																																																																				0.502	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			12	701	1	0	6.40141e-05	6.40141e-05	0.00496729	12	701					A	9237378	C	A	9237378	2	1	123	1	0	0	0	0	0	0	0	1	11266	813	29	3		3	OR7G3	19	9237378	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2155344	9237378	49891605	332	38518											
DOCK6	57572	broad.mit.edu	37	chr19	11326596	11326596	+	Frame_Shift_Del	DEL	T	T	-													tgttgatgcgttcaaaggccTttttcccctgggggtgcaga							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:11326596delT	ENST00000294618.7	-	31	3913	c.3902delA	c.(3901-3903)aagfs	p.K1301fs	DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1301					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCAAAGGCCTTTTTCCCCTG	0.542																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(3901-3903)agfs		dedicator of cytokinesis 6							93	87	89					19																	11326596		1908	4113	6021	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326596delT		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3902delA	19.37:g.11326596delT	ENSP00000294618:p.Lys1301fs					DOCK6_ENST00000319867.7_Frame_Shift_Del_p.K640fs|CTC-510F12.2_ENST00000588634.1_RNA	p.K1301fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			31	3913	-			1301					A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.3902delA	CCDS45975.1																																																																																				0.542	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		9	745						9	745	---	---	---	---	-	11326596	T	-	11326596	7	5	123	1	0	1	0	1	0	0	0	0	4707	1609	56	0	2313	0	DOCK6	19	11326596	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	2089218	11326596	47802387	333	38519											
ZNF441	126068	broad.mit.edu	37	chr19	11892184	11892184	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaagctttgattctccCagttcatttcgaagacatga	9	8	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:11892184C>A	ENST00000357901.4	+	4	1647	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	ZNF441_ENST00000454339.2_Silent_p.P448P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATTCTCCCAGTTCATTTC	0.403																																						ENST00000357901.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1543-1545)ccC>ccA		zinc finger protein 441							76	76	76					19																	11892184		2203	4299	6502	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892184C>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1545C>A	19.37:g.11892184C>A						ZNF441_ENST00000454339.2_Silent_p.P448P	p.P515P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	1647	+			515						Silent	SNP	ENST00000357901.4	37	c.1545C>A	CCDS12266.2																																																																																				0.403	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		9	574	1	0	6.40141e-05	6.40141e-05	0.00496729	9	574					A	11892184	C	A	11892184	2	1	123	1	0	0	0	0	0	0	0	1	17967	581	21	3		3	ZNF441	19	11892184	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	565588	11892184	47236799	334	38520											
ZNF443	10224	broad.mit.edu	37	chr19	12542230	12542230	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaacactgtttacattcataCggtttctccccagtatgtgt	7	10	2	0	rs533901012	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12542230C>T	ENST00000301547.5	-	4	953	c.756G>A	c.(754-756)ccG>ccA	p.P252P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	252					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						TACATTCATACGGTTTCTCCC	0.363													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		23531	0.0		0.0	False		,,,				2504	0.0					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(754-756)ccG>ccA		zinc finger protein 443							186	187	187					19																	12542230		2203	4300	6503	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542230C>T	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.756G>A	19.37:g.12542230C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.P252P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	953	-			252						Silent	SNP	ENST00000301547.5	37	c.756G>A	CCDS32918.1																																																																																				0.363	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		9	1649	0	0	0	8.12818e-05	0	9	1649					T	12542230	C	T	12542230	2	4	123	1	0	0	0	0	0	0	0	1	17969	523	19	1		1	ZNF443	19	12542230	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	650046	12542230	46586753	335	38521											
ZNF443	10224	broad.mit.edu	37	chr19	12542302	12542302	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaggctttagaacactgCttacattcatatggtttctc	7	8	2	1	rs544462649		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12542302C>T	ENST00000301547.5	-	4	881	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	228					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						TAGAACACTGCTTACATTCAT	0.373													.|||	1	0.000199681	0.0	0.0	5008	,	,		23379	0.0		0.0	False		,,,				2504	0.001					ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(682-684)aaG>aaA		zinc finger protein 443							116	120	119					19																	12542302		2203	4299	6502	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542302C>T	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.684G>A	19.37:g.12542302C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.K228K	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	881	-			228						Silent	SNP	ENST00000301547.5	37	c.684G>A	CCDS32918.1																																																																																				0.373	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		8	1239	0	0	0	1.23904e-05	0	8	1239					T	12542302	C	T	12542302	2	4	123	1	0	0	0	0	0	0	0	1	17969	796	28	2		2	ZNF443	19	12542302	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	72	12542302	46586681	336	38522											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	7	9	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102	108	106					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	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.1356G>A	19.37:g.12575380C>T						ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		10	1022	0	0	0	0.000151284	0	10	1022					T	12575380	C	T	12575380	2	4	123	1	0	0	0	0	0	0	0	1	18166	564	20	2		2	ZNF709	19	12575380	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	33078	12575380	46553603	337	38523											
NWD1	284434	broad.mit.edu	37	chr19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-													agacatggtggagacggctgTttttggtactgagaacaacc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301	275	284					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	1815						7	1815	---	---	---	---	-	16908642	T	-	16908642	7	5	123	1	0	1	0	1	0	0	0	0	10823	1725	60	0	3045	0	NWD1	19	16908642	Frame_Shift_Del	DEL	T	TCGA-YB-A89D-01A-12D-A36O-08	4333262	16908642	42220341	338	38524											
YJEFN3	374887	broad.mit.edu	37	chr19	19645890	19645890	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	aagcagaggacggtgctggtCgtgtgtggcccggagcagaa	18	8	0	2	rs572316855		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:19645890C>A	ENST00000514277.4	+	4	404	c.366C>A	c.(364-366)gtC>gtA	p.V122V	CTC-260F20.3_ENST00000555938.1_Silent_p.V121V|YJEFN3_ENST00000436027.5_Silent_p.V72V|YJEFN3_ENST00000608404.1_Silent_p.V121V	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	122	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CGGTGCTGGTCGTGTGTGGCC	0.642																																						ENST00000555938.1																			0											c.(361-363)gtC>gtA									87	106	99					19																	19645890		2122	4229	6351	SO:0001819	synonymous_variant	0							g.chr19:19645890C>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.366C>A	19.37:g.19645890C>A						YJEFN3_ENST00000436027.4_Silent_p.V72V|YJEFN3_ENST00000514277.3_Silent_p.V122V	p.V121V							5	375	+								A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.363C>A	CCDS42530.1																																																																																				0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		10	800	1	0	0.00010058	0.00010058	0.0072096	10	800					A	19645890	C	A	19645890	2	1	123	1	0	0	0	0	0	0	0	1	17538	871	31	3		3	YJEFN3	19	19645890	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	2737248	19645890	39483093	339	38525											
ZNF675	171392	broad.mit.edu	37	chr19	23836724	23836724	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacatttgtagggtttTtctccagtatgaattctctt	6	8	4	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:23836724T>C	ENST00000359788.4	-	4	1179	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	337					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)				TGTAGGGTTTTTCTCCAGTAT	0.378																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1009-1011)gaA>gaG		zinc finger protein 675							47	50	49					19																	23836724		2203	4300	6503	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836724T>C		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.1011A>G	19.37:g.23836724T>C						ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	p.E337E	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1179	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	337					Q8N211	Silent	SNP	ENST00000359788.4	37	c.1011A>G	CCDS32981.1																																																																																				0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		5	511	0	0	0	3.86212e-05	0	5	511					C	23836724	T	C	23836724	2	2	123	1	0	0	0	0	0	0	0	1	18135	1838	64	4		4	ZNF675	19	23836724	Silent	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	4190834	23836724	35292259	340	38526											
TSHZ3	57616	broad.mit.edu	37	chr19	31770222	31770224	+	In_Frame_Del	DEL	GCT	GCT	-													tcgaagctcccgctgccacaGctgctgctgctgctactgct							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:31770222_31770224delGCT	ENST00000240587.4	-	2	802_804	c.475_477delAGC	c.(475-477)agcdel	p.S159del		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	159	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					Cgctgccacagctgctgctgctg	0.626																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(475-477)del		teashirt zinc finger homeobox 3																																				SO:0001651	inframe_deletion	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770222_31770224delGCT	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.475_477delAGC	19.37:g.31770231_31770233delGCT	ENSP00000240587:p.Ser159del						p.S159del	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	802_804	-	Esophageal squamous(110;0.226)		159			Ser-rich.		Q9H0G6|Q9P254	In_Frame_Del	DEL	ENST00000240587.4	37	c.475_477delAGC	CCDS12421.2																																																																																				0.626	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	168						7	168	---	---	---	---	-	31770224	GCT	-	31770222	7	5	123	1	0	1	0	1	0	0	0	0	16678	962	34	0	2772	0	TSHZ3	19	31770222	In_Frame_Del	DEL	GCT	TCGA-YB-A89D-01A-12D-A36O-08	7933498	31770222	27358761	341	38527											
ZNF599	148103	broad.mit.edu	37	chr19	35251059	35251059	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgaatctgttgatgcCgaacaagggcccacttcttg	10	11	2	2	rs202116567		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:35251059C>A	ENST00000329285.8	-	4	1020	c.647G>T	c.(646-648)cGg>cTg	p.R216L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGTTGATGCCGAACAAGGGC	0.478																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(646-648)cGg>cTg		zinc finger protein 599							190	183	186					19																	35251059		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251059C>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.647G>T	19.37:g.35251059C>A	ENSP00000333802:p.Arg216Leu						p.R216L	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1020	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		216					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.647G>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313663	0.23908	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.26373	1.74	2.26	0.0456	0.14231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16171	0.0389	L	0.37897	1.145	0.34881	D	0.744589	B	0.12630	0.006	B	0.11329	0.006	T	0.14615	-1.0466	9	0.30854	T	0.27	.	4.902	0.13779	0.0:0.5163:0.0:0.4837	.	216	Q96NL3	ZN599_HUMAN	L	215;216;18	ENSP00000333802:R216L	ENSP00000333802:R216L	R	-	2	0	ZNF599	39942899	0.000000	0.05858	0.813000	0.32504	0.890000	0.51754	-1.158000	0.03153	0.080000	0.16959	0.313000	0.20887	CGG		0.478	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		9	942	1	0	2.17888e-05	2.17888e-05	0.00213033	9	942					A	35251059	C	A	35251059	3	1	123	1	0	0	0	0	1	0	0	0	18082	652	23	3	1123	3	ZNF599	19	35251059	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3480837	35251059	23877924	342	38528											
ZFP82	284406	broad.mit.edu	37	chr19	36883858	36883858	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtagagtaagtttttggcGcaatctaaaggccttgccac	10	8	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:36883858G>A	ENST00000392161.3	-	5	1626	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTGGCGCAATCTAAAG	0.398																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1384-1386)Cgc>Tgc		ZFP82 zinc finger protein							104	100	101					19																	36883858		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883858G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1384C>T	19.37:g.36883858G>A	ENSP00000431265:p.Arg462Cys					ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			5	1626	-			462					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1384C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517462	0.27123	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.08634	3.07;3.07	4.2	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001727	T	0.11623	0.0283	M	0.68952	2.095	0.09310	N	1	D	0.63880	0.993	P	0.47626	0.552	T	0.13872	-1.0493	10	0.42905	T	0.14	.	5.1118	0.14813	0.1064:0.0:0.6852:0.2084	.	462	Q8N141	ZFP82_HUMAN	C	462	ENSP00000431265:R462C;ENSP00000446080:R462C	ENSP00000431265:R462C	R	-	1	0	ZFP82	41575698	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.160000	0.10041	1.081000	0.41110	0.591000	0.81541	CGC		0.398	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		6	683	0	0	0	8.12818e-05	0	6	683					A	36883858	G	A	36883858	3	1	123	1	0	0	0	0	1	0	0	0	17706	1087	38	1	218	1	ZFP82	19	36883858	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	1632799	36883858	22245125	343	38529											
ZNF780A	284323	broad.mit.edu	37	chr19	40580666	40580666	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaTtccttacattcaaagggttt	7	10	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:40580666T>C	ENST00000595687.2	-	6	1892	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E	ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Silent_p.E527E|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1579-1581)gaA>gaG		zinc finger protein 780A							130	132	131					19																	40580666		2203	4300	6503	SO:0001819	synonymous_variant	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580666T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1683A>G	19.37:g.40580666T>C						ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000594395.1_Silent_p.E562E	p.E527E			O75290	Z780A_HUMAN			6	1892	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		561					E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.1581A>G	CCDS33026.2																																																																																				0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	944	0	0	0	1.12685e-05	0	6	944					C	40580666	T	C	40580666	2	2	123	1	0	0	0	0	0	0	0	1	18205	1490	52	4		4	ZNF780A	19	40580666	Silent	SNP	T	TCGA-YB-A89D-01A-12D-A36O-08	3696808	40580666	18548317	344	38530											
CEACAM5	1048	broad.mit.edu	37	chr19	42224866	42224866	+	Frame_Shift_Del	DEL	C	C	-													gccggacacccccatcatttCccccccagactcgtcttacc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:42224866delC	ENST00000221992.6	+	8	1910	c.1796delC	c.(1795-1797)tccfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)tcfs		carcinoembryonic antigen-related cell adhesion molecule 5							136	141	139					19																	42224866		2203	4300	6503	SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224866delC	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.1796delC	19.37:g.42224866delC	ENSP00000221992:p.Ser599fs					CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs|CEA_ENST00000598976.1_Intron	p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Del	DEL	ENST00000221992.6	37	c.1796delC	CCDS12584.1																																																																																				0.547	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		9	1079						9	1079	---	---	---	---	-	42224866	C	-	42224866	7	5	123	1	0	1	0	1	0	0	0	0	3204	855	30	0	1826	0	CEACAM5	19	42224866	Frame_Shift_Del	DEL	C	TCGA-YB-A89D-01A-12D-A36O-08	1644200	42224866	16904117	345	38531											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424922	47424922	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gccatcttacagcctgtttcGagaagacacatcactgcctt	7	13	2	2	rs371941437		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:47424922G>T	ENST00000404338.3	+	1	2990	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					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.R997Q(1)									AGCCTGTTTCGAGAAGACACA	0.478																																						ENST00000404338.3																			1	Substitution - Missense(1)	p.R997Q(1)	large_intestine(1)								c.(2989-2991)cGa>cTa		Rho GTPase activating protein 35							64	63	63					19																	47424922		1937	4149	6086	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424922G>T	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.2990G>T	19.37:g.47424922G>T	ENSP00000385720:p.Arg997Leu						p.R997L	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	2990	+			997					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2990G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889137	0.52014	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08370	3.1	5.76	5.76	0.90799	.	0.061993	0.64402	D	0.000005	T	0.11239	0.0274	L	0.43152	1.355	0.43678	D	0.996117	P	0.41624	0.757	P	0.47299	0.543	T	0.17531	-1.0366	10	0.11794	T	0.64	-7.3842	12.1257	0.53915	0.0796:0.0:0.9204:0.0	.	997	Q9NRY4-2	.	L	997	ENSP00000385720:R997L	ENSP00000324820:R997L	R	+	2	0	ARHGAP35	52116762	0.993000	0.37304	0.999000	0.59377	0.995000	0.86356	7.298000	0.78815	2.726000	0.93360	0.655000	0.94253	CGA		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		8	408	1	0	1.12685e-05	1.12685e-05	0.00119236	8	408					T	47424922	G	T	47424922	3	4	123	1	0	0	0	0	1	0	0	0	6825	1058	37	3	2992	3	ARHGAP35	19	47424922	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	5200056	47424922	11704061	346	38532											
MAMSTR	284358	broad.mit.edu	37	chr19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G													tctgaagttccaacttgtgtINSggggggggcgaggggctagg					rs373516785		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(484-486)ccafs		MEF2 activating motif and SAP domain containing transcriptional regulator																																				SO:0001589	frameshift_variant	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49218105_49218106insG	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs					MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs	p.P162fs			Q6ZN01	MASTR_HUMAN			6	548_549	-			162			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	ENST00000318083.6	37	c.485_486insC	CCDS46137.1																																																																																				0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		8	578						8	578	---	---	---	---	G	49218106	-	G	49218105	7	5	123	1	0	1	1	0	0	0	0	0	9250	1683	59	0	781	0	MAMSTR	19	49218105	Frame_Shift_Ins	INS	-	TCGA-YB-A89D-01A-12D-A36O-08	1793183	49218105	9910878	347	38533											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628233	51628235	+	Start_Codon_Del	DEL	TGC	TGC	-													ggcacctctaaccccagacaTgctgctgctgctgctgcccc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:51628233_51628235delTGC	ENST00000250360.3	+	0	69_71				SIGLEC9_ENST00000440804.3_Start_Codon_Del	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACCCCAGACATGCTGCTGCTGCT	0.611																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45								sialic acid binding Ig-like lectin 9																																				SO:0001582	initiator_codon_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628233_51628235delTGC	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336			19.37:g.51628242_51628244delTGC						SIGLEC9_ENST00000250360.3_Start_Codon_Del		NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	0	69_71	+		all_neural(266;0.0529)						Q6GTU4|Q9BYI9	Translation_Start_Site	DEL	ENST00000250360.3	37		CCDS12825.1																																																																																				0.611	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	276						9	276	---	---	---	---	-	51628235	TGC	-	51628233	7	5	123	1	0	1	0	1	0	0	0	0	14365	1464	51	0	4	0	SIGLEC9	19	51628233	Start_Codon_Del	DEL	TGC	TCGA-YB-A89D-01A-12D-A36O-08	2410128	51628233	7500750	348	38534											
FPR3	2359	broad.mit.edu	37	chr19	52327944	52327944	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	acttccaagaaagactgattCgctctttgcccactagtttg	7	11	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52327944C>A	ENST00000339223.4	+	2	1122	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.R315C(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AAGACTGATTCGCTCTTTGCC	0.507																																						ENST00000339223.4																			1	Substitution - Missense(1)	p.R315C(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(943-945)Cgc>Agc		formyl peptide receptor 3							108	102	104					19																	52327944		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327944C>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.943C>A	19.37:g.52327944C>A	ENSP00000341821:p.Arg315Ser					FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	1122	+			315						Missense_Mutation	SNP	ENST00000339223.4	37	c.943C>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	9.235	1.036746	0.19669	.	.	ENSG00000187474	ENST00000339223	T	0.39056	1.1	2.34	-0.267	0.12938	.	0.422186	0.21077	N	0.080555	T	0.26304	0.0642	L	0.39898	1.24	0.22213	N	0.999285	P	0.39748	0.686	B	0.39935	0.314	T	0.08027	-1.0742	10	0.26408	T	0.33	.	2.8854	0.05660	0.4068:0.4264:0.0:0.1667	.	315	P25089	FPR3_HUMAN	S	315	ENSP00000341821:R315S	ENSP00000341821:R315S	R	+	1	0	FPR3	57019756	0.000000	0.05858	0.135000	0.22099	0.304000	0.27724	0.024000	0.13555	0.322000	0.23283	0.305000	0.20034	CGC		0.507	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		9	588	1	0	1.12685e-05	1.12685e-05	0.00119236	9	588					A	52327944	C	A	52327944	3	1	123	1	0	0	0	0	1	0	0	0	6067	884	31	3	945	3	FPR3	19	52327944	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	699711	52327944	6801039	349	38535											
ZNF649	65251	broad.mit.edu	37	chr19	52394652	52394652	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgtgttcagtgagcctgtacCtcttgtagaaggctttccca	10	11	2	2	rs200081147		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52394652C>T	ENST00000354957.3	-	5	1021	c.737G>A	c.(736-738)aGg>aAg	p.R246K	ZNF649_ENST00000600738.1_Splice_Site|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GAGCCTGTACCTCTTGTAGAA	0.502																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(736-738)aGg>aAg		zinc finger protein 649							126	123	124					19																	52394652		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394652C>T	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.737G>A	19.37:g.52394652C>T	ENSP00000347043:p.Arg246Lys					ZNF649_ENST00000600738.1_Splice_Site|CTC-429C10.2_ENST00000600329.1_RNA	p.R246K	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1021	-		all_neural(266;0.0602)	246					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.737G>A	CCDS12843.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.012	-1.651653	0.00785	.	.	ENSG00000198093	ENST00000354957	T	0.03951	3.75	2.35	-2.86	0.05717	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01661	0.0053	N	0.02708	-0.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	9	0.02654	T	1	.	8.4533	0.32884	0.0:0.4449:0.0:0.5551	.	246	Q9BS31	ZN649_HUMAN	K	246	ENSP00000347043:R246K	ENSP00000347043:R246K	R	-	2	0	ZNF649	57086464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.392000	0.02523	-0.839000	0.04212	-1.750000	0.00680	AGG		0.502	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		8	677	0	0	0	2.17888e-05	0	8	677					T	52394652	C	T	52394652	3	4	123	1	0	0	0	0	1	0	0	0	18117	681	24	2	784	2	ZNF649	19	52394652	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	66708	52394652	6734331	350	38536											
ZNF613	79898	broad.mit.edu	37	chr19	52447691	52447691	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cccgaaggtggaaattctgtGaatacaaattcacaattcat	7	8	3	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr19:52447691G>T	ENST00000293471.6	+	6	1234	c.555G>T	c.(553-555)gtG>gtT	p.V185V	ZNF613_ENST00000391794.4_Silent_p.V149V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	185					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)		GAAATTCTGTGAATACAAATT	0.413																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(553-555)gtG>gtT		zinc finger protein 613							144	156	152					19																	52447691		2203	4300	6503	SO:0001819	synonymous_variant	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447691G>T	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.555G>T	19.37:g.52447691G>T						ZNF613_ENST00000391794.4_Silent_p.V149V	p.V185V	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1234	+		all_neural(266;0.117)	185					Q96SS9	Silent	SNP	ENST00000293471.6	37	c.555G>T	CCDS33089.1																																																																																				0.413	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		16	1171	1	0	3.86212e-05	3.86212e-05	0.00414285	16	1171					T	52447691	G	T	52447691	2	4	123	1	0	0	0	0	0	0	0	1	18091	1277	45	3		3	ZNF613	19	52447691	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	53039	52447691	6681292	351	38537											
ZNF616	90317	broad.mit.edu	37	chr19	52618196	52618196	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	acatttataaggttttttgcCagaatgaattctttggtgtt	8	4	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52618196C>A	ENST00000600228.1	-	4	2482	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTTTTGCCAGAATGAATT	0.403																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2221-2223)Ggc>Tgc		zinc finger protein 616							119	122	121					19																	52618196		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618196C>A	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.2221G>T	19.37:g.52618196C>A	ENSP00000471000:p.Gly741Cys					ZNF616_ENST00000330123.5_3'UTR	p.G741C	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2482	-			741					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2221G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345951	0.41599	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	2.04	0.26737	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76644	0.4016	M	0.93241	3.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63950	-0.6521	8	0.72032	D	0.01	.	9.6957	0.40156	0.0:1.0:0.0:0.0	.	741	Q08AN1	ZN616_HUMAN	C	741	.	ENSP00000328722:G741C	G	-	1	0	ZNF616	57310008	0.000000	0.05858	0.008000	0.14137	0.172000	0.22775	-0.321000	0.08018	1.116000	0.41820	0.484000	0.47621	GGC		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		8	706	1	0	3.07112e-06	6.40141e-05	0.00037162	8	706					A	52618196	C	A	52618196	3	1	123	1	0	0	0	0	1	0	0	0	18094	594	21	3	128	3	ZNF616	19	52618196	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	170505	52618196	6510787	352	38538											
ZNF665	79788	broad.mit.edu	37	chr19	53669363	53669363	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcagcccttctatcaCgttgagctcttctaccaggg	8	14	4	1	rs201506528		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53669363C>T	ENST00000600412.1	-	2	300	c.185G>A	c.(184-186)cGt>cAt	p.R62H	ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-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)		CCTTCTATCACGTTGAGCTCT	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20617	0.0		0.0	False		,,,				2504	0.0					ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(184-186)cGt>cAt		zinc finger protein 665							117	123	121					19																	53669363		2088	4240	6328	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669363C>T		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.185G>A	19.37:g.53669363C>T	ENSP00000469154:p.Arg62His					ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H	p.R62H			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	300	-			62					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.185G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.005	-2.190842	0.00302	.	.	ENSG00000197497	ENST00000396424	T	0.08370	3.1	1.9	-3.79	0.04320	.	.	.	.	.	T	0.00998	0.0033	N	0.00040	-2.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40440	-0.9563	9	0.02654	T	1	.	6.2359	0.20762	0.0:0.5693:0.1785:0.2522	.	127	Q9H7R5-2	.	H	127	ENSP00000379702:R127H	ENSP00000379702:R127H	R	-	2	0	ZNF665	58361175	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.134000	0.03228	-1.158000	0.02811	-0.382000	0.06688	CGT		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		8	934	0	0	0	0.000157383	0	8	934					T	53669363	C	T	53669363	3	4	123	1	0	0	0	0	1	0	0	0	18126	536	19	1	1660	1	ZNF665	19	53669363	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1051167	53669363	5459620	353	38539											
ZNF845	91664	broad.mit.edu	37	chr19	53855284	53855284	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	gaagctttcagtttcaaatcGaaccttgaaagacataggag	9	7	2	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	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)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26	24	25					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	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.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	491	0	0	0	1.12685e-05	0	7	491					A	53855284	G	A	53855284	2	1	123	1	0	0	0	0	0	0	0	1	18244	1045	37	1		1	ZNF845	19	53855284	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	185921	53855284	5273699	354	38540											
KIR2DL3	3804	broad.mit.edu	37	chr19	55263867	55263867	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tgacatatgcacagttgaatCactgcgttttcacacagaga	8	9	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:55263867C>A	ENST00000342376.3	+	8	953	c.922C>A	c.(922-924)Cac>Aac	p.H308N	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	308					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)		ACAGTTGAATCACTGCGTTTT	0.502																																						ENST00000342376.3																			0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(922-924)Cac>Aac		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							210	217	215					19																	55263867		2039	4010	6049	SO:0001583	missense	3804							g.chr19:55263867C>A	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.922C>A	19.37:g.55263867C>A	ENSP00000342215:p.His308Asn					KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	p.H308N	NM_015868.2	NP_056952.2				GBM - Glioblastoma multiforme(193;0.0192)	8	953	+								O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.922C>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430494	0.25726	.	.	ENSG00000243772	ENST00000342376	T	0.00464	7.24	1.06	1.06	0.20224	.	.	.	.	.	T	0.01489	0.0048	M	0.92507	3.315	0.09310	N	0.999999	P;P;P	0.44986	0.769;0.847;0.847	P;P;P	0.61397	0.888;0.544;0.544	T	0.26573	-1.0099	9	0.87932	D	0	.	5.5228	0.16941	0.0:1.0:0.0:0.0	.	210;308;308	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	N	308	ENSP00000342215:H308N	ENSP00000342215:H308N	H	+	1	0	KIR2DL3	59955679	0.005000	0.15991	0.002000	0.10522	0.012000	0.07955	1.002000	0.29796	0.889000	0.36185	0.298000	0.19748	CAC		0.502	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			16	1367	1	0	2.31682e-05	2.31682e-05	0.00220351	16	1367					A	55263867	C	A	55263867	3	1	123	1	0	0	0	0	1	0	0	0	8347	826	29	3	952	3	KIR2DL3	19	55263867	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	1408583	55263867	3865116	355	38541											
ZNF418	147686	broad.mit.edu	37	chr19	58438709	58438709	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcataaggtcttttcccagtGtgaactcgctgatgctgaac	9	10	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58438709G>A	ENST00000396147.1	-	4	1131	c.840C>T	c.(838-840)caC>caT	p.H280H	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Silent_p.H301H|ZNF418_ENST00000595830.1_Silent_p.H280H|ZNF418_ENST00000599852.1_Silent_p.H195H	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TTTTCCCAGTGTGAACTCGCT	0.433																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(838-840)caC>caT		zinc finger protein 418							95	98	97					19																	58438709		2189	4297	6486	SO:0001819	synonymous_variant	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438709G>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.840C>T	19.37:g.58438709G>A						ZNF418_ENST00000595830.1_Silent_p.H280H|ZNF418_ENST00000599852.1_Silent_p.H195H|ZNF418_ENST00000425570.3_Silent_p.H301H|ZNF418_ENST00000600989.1_Intron	p.H280H	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1131	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	280					Q2M1S2|Q670L5|Q96N18	Silent	SNP	ENST00000396147.1	37	c.840C>T	CCDS42642.1																																																																																				0.433	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		10	794	0	0	0	6.40141e-05	0	10	794					A	58438709	G	A	58438709	2	1	123	1	0	0	0	0	0	0	0	1	17948	1368	48	2		2	ZNF418	19	58438709	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	3174842	58438709	690274	356	38542											
ZNF497	162968	broad.mit.edu	37	chr19	58867557	58867557	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctcgttgaggttgcaaCggtggctgaaaggcttcccg	16	9	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58867557C>T	ENST00000311044.3	-	3	1633	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000600686.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GAGGTTGCAACGGTGGCTGAA	0.697																																						ENST00000311044.3																			0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(1444-1446)cGt>cAt		zinc finger protein 497							17	18	18					19																	58867557		2185	4263	6448	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867557C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1445G>A	19.37:g.58867557C>T	ENSP00000311183:p.Arg482His					ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|CTD-2619J13.8_ENST00000599109.1_RNA	p.R482H	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1633	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	482					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.1445G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405179	0.42613	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.36157	1.27;1.27	1.01	-0.157	0.13387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	L	0.38531	1.155	0.09310	N	1	D	0.65815	0.995	P	0.52031	0.688	T	0.13361	-1.0512	9	0.36615	T	0.2	.	2.4784	0.04581	0.0:0.4377:0.3307:0.2316	.	482	Q6ZNH5	ZN497_HUMAN	H	482	ENSP00000311183:R482H;ENSP00000402815:R482H	ENSP00000311183:R482H	R	-	2	0	ZNF497	63559369	0.000000	0.05858	0.268000	0.24571	0.241000	0.25554	-1.396000	0.02513	-0.011000	0.14247	0.195000	0.17529	CGT		0.697	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	NM_198458		24	97	0	0	0	0.000117367	0	24	97					T	58867557	C	T	58867557	3	4	123	1	0	0	0	0	1	0	0	0	17999	536	19	1	55	1	ZNF497	19	58867557	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	428848	58867557	261426	357	38543											
SEC23B	10483	broad.mit.edu	37	chr20	18492924	18492924	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	atttctgttttcaaagaaatCaggtatgtgaattattttta	6	3	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:18492924C>A	ENST00000336714.3	+	3	709	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR	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)	93					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						TCAAAGAAATCAGGTATGTGa	0.269																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(277-279)Cag>Aag		Sec23 homolog B (S. cerevisiae)							25	27	26					20																	18492924		2198	4276	6474	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18492924C>A	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.277C>A	20.37:g.18492924C>A	ENSP00000338844:p.Gln93Lys					SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K	p.Q93K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			3	709	+			93					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.277C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058618	0.55325	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.33	5.33	0.75918	Zinc finger, Sec23/Sec24-type (2);	0.180852	0.49305	D	0.000141	T	0.70996	0.3288	L	0.31664	0.95	0.44424	D	0.997344	B;B	0.23990	0.095;0.023	B;B	0.29440	0.102;0.102	T	0.65857	-0.6066	10	0.36615	T	0.2	-14.7116	18.1847	0.89789	0.0:1.0:0.0:0.0	.	93;93	B4DJW8;Q15437	.;SC23B_HUMAN	K	93	ENSP00000403971:Q93K;ENSP00000338844:Q93K;ENSP00000262544:Q93K;ENSP00000366695:Q93K;ENSP00000366685:Q93K	ENSP00000262544:Q93K	Q	+	1	0	SEC23B	18440924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.783000	0.68982	2.768000	0.95171	0.655000	0.94253	CAG		0.269	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			9	526	1	0	2.17888e-05	2.17888e-05	0.00213033	9	526					A	18492924	C	A	18492924	3	1	123	1	0	0	0	0	1	0	0	0	14042	827	29	3	283	3	SEC23B	20	18492924	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08		18492924	44532596	358	38544											
CST11	140880	broad.mit.edu	37	chr20	23433311	23433311	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	0	0	0	0	0	0	0	tcggtgatccactgcaagctGtccttcgcatagttttctac	8	12	1	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:23433311G>C	ENST00000377009.3	-	1	171	c.138C>G	c.(136-138)gaC>gaG	p.D46E	CST11_ENST00000377007.3_Missense_Mutation_p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3																			0				kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(136-138)gaC>gaG		cystatin 11							211	184	193					20																	23433311		2203	4300	6503	SO:0001583	missense	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433311G>C	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>G	20.37:g.23433311G>C	ENSP00000366208:p.Asp46Glu					CST11_ENST00000377007.3_Missense_Mutation_p.D46E	p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN			1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		46					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	37	c.138C>G	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315401	0.01331	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.20881	2.04;2.04	3.86	-7.72	0.01250	Proteinase inhibitor I25, cystatin (2);	1.801240	0.02192	N	0.061416	T	0.07188	0.0182	N	0.12182	0.205	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.18871	0.023;0.022	T	0.32903	-0.9889	10	0.02654	T	1	-0.6315	0.5297	0.00626	0.3409:0.2761:0.1774:0.2056	.	46;46	Q9H112-2;Q9H112	.;CST11_HUMAN	E	46	ENSP00000366208:D46E;ENSP00000366206:D46E	ENSP00000366206:D46E	D	-	3	2	CST11	23381311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.747000	0.04823	-1.825000	0.01207	-0.142000	0.14014	GAC		0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	NM_130794		10	733	0	0	0	6.40141e-05	0	10	733					C	23433311	G	C	23433311	3	2	123	1	0	0	0	0	1	0	0	0	3982	1368	48	5	290	5	CST11	20	23433311	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4940387	23433311	39592209	359	38545											
LPIN3	64900	broad.mit.edu	37	chr20	39981331	39981331	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ccaaacctagtggtgaaaatCaatggaaagtaagtcccaga	9	8	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chr20:39981331C>A	ENST00000373257.3	+	10	1540	c.1449C>A	c.(1447-1449)atC>atA	p.I483I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	483					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)				TGGTGAAAATCAATGGAAAGT	0.532																																						ENST00000373257.3																			0				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						c.(1447-1449)atC>atA		lipin 3							114	128	124					20																	39981331		2203	4300	6503	SO:0001819	synonymous_variant	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39981331C>A	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.1449C>A	20.37:g.39981331C>A							p.I483I	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			10	1540	+		Myeloproliferative disorder(115;0.000739)	483					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	c.1449C>A	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	9.412	1.080820	0.20309	.	.	ENSG00000132793	ENST00000445975	.	.	.	4.59	2.56	0.30785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.349	6.0553	0.19809	0.1525:0.6716:0.0:0.1759	.	.	.	.	X	4	.	.	S	+	2	0	LPIN3	39414745	0.001000	0.12720	1.000000	0.80357	0.990000	0.78478	-0.129000	0.10515	1.030000	0.39839	0.491000	0.48974	TCA		0.532	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		15	780	1	0	3.45872e-05	3.45872e-05	0.00404903	15	780					A	39981331	C	A	39981331	2	1	123	1	0	0	0	0	0	0	0	1	8958	816	29	3		3	LPIN3	20	39981331	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	16548020	39981331	23044189	360	38546											
C20orf111	51526	broad.mit.edu	37	chr20	42835547	42835547	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gcatccactcttaattttttGaaagcagtctgtagactctc	6	10	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:42835547G>T	ENST00000372970.2	-	4	231	c.51C>A	c.(49-51)ttC>ttA	p.F17L	OSER1_ENST00000255174.2_Missense_Mutation_p.F17L			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	17					cellular response to hydrogen peroxide (GO:0070301)												TTAATTTTTTGAAAGCAGTCT	0.323																																						ENST00000372970.2																			0											c.(49-51)ttC>ttA		oxidative stress responsive serine-rich 1							101	93	96					20																	42835547		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42835547G>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.51C>A	20.37:g.42835547G>T	ENSP00000362061:p.Phe17Leu					OSER1_ENST00000255174.2_Missense_Mutation_p.F17L	p.F17L							4	231	-								B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.51C>A	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295360	0.81025	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71427	-0.4596	10	0.87932	D	0	-16.4206	13.2149	0.59854	0.073:0.0:0.927:0.0	.	17	Q9NX31	CT111_HUMAN	L	17	ENSP00000255174:F17L;ENSP00000362061:F17L	ENSP00000255174:F17L	F	-	3	2	C20orf111	42268961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.742000	0.55097	2.802000	0.96397	0.650000	0.86243	TTC		0.323	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		11	490	1	0	1.3612e-06	2.31682e-05	0.000177925	11	490					T	42835547	G	T	42835547	3	4	123	1	0	0	0	0	1	0	0	0	2087	1281	45	3	839	3	C20orf111	20	42835547	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	2854216	42835547	20189973	361	38547											
ADNP	23394	broad.mit.edu	37	chr20	49518611	49518611	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tcctcccatgtagtgtttttCaaataaaagtcattaggttc	6	8	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:49518611C>A	ENST00000396029.3	-	4	711	c.144G>T	c.(142-144)ttG>ttT	p.L48F	ADNP_ENST00000371602.4_Missense_Mutation_p.L48F|ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	48					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						TAGTGTTTTTCAAATAAAAGT	0.383																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(142-144)ttG>ttT		activity-dependent neuroprotector homeobox							141	140	140					20																	49518611		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49518611C>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.144G>T	20.37:g.49518611C>A	ENSP00000379346:p.Leu48Phe					ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F|ADNP_ENST00000371602.4_Missense_Mutation_p.L48F	p.L48F	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			4	711	-			48					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.144G>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268318	0.23136	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.210963	0.44483	D	0.000449	T	0.50837	0.1639	N	0.04090	-0.28	0.42869	D	0.994132	P	0.48911	0.917	B	0.43478	0.421	T	0.54296	-0.8315	9	.	.	.	-19.1599	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	48	Q9H2P0	ADNP_HUMAN	F	48	ENSP00000360662:L48F;ENSP00000342905:L48F;ENSP00000379346:L48F;ENSP00000379349:L48F;ENSP00000436181:L48F	.	L	-	3	2	ADNP	48952018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.496000	0.35638	2.941000	0.99782	0.655000	0.94253	TTG		0.383	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		14	813	1	0	0.00010058	0.00010058	0.0072096	14	813					A	49518611	C	A	49518611	3	1	123	1	0	0	0	0	1	0	0	0	323	825	29	3	3172	3	ADNP	20	49518611	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6683064	49518611	13506909	362	38548											
SPO11	23626	broad.mit.edu	37	chr20	55906923	55906923	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catctatagaaaatattatcCaagacataatcacaagcttg	4	8	2	2	rs200007444		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:55906923C>A	ENST00000371263.3	+	2	275	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	SPO11_ENST00000345868.4_Intron|SPO11_ENST00000371260.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	56					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)			AAATATTATCCAAGACATAAT	0.323								Editing and processing nucleases																														ENST00000371263.3																			0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(166-168)Caa>Aaa	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							131	142	138					20																	55906923		2203	4300	6503	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55906923C>A	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.166C>A	20.37:g.55906923C>A	ENSP00000360310:p.Gln56Lys					SPO11_ENST00000371260.4_Intron|SPO11_ENST00000345868.4_Intron	p.Q56K	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		2	275	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		56					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.166C>A	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602589	0.28534	.	.	ENSG00000054796	ENST00000371263;ENST00000418127	T;T	0.16196	2.36;2.36	5.42	4.46	0.54185	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.351271	0.29417	N	0.012207	T	0.15565	0.0375	L	0.54323	1.7	0.21933	N	0.99947	B	0.20887	0.049	B	0.14023	0.01	T	0.33317	-0.9873	10	0.06236	T	0.91	-7.2948	14.2671	0.66126	0.0:0.7184:0.2816:0.0	.	56	Q9Y5K1	SPO11_HUMAN	K	56;34	ENSP00000360310:Q56K;ENSP00000413185:Q34K	ENSP00000360310:Q56K	Q	+	1	0	SPO11	55340330	0.607000	0.26958	0.534000	0.28014	0.756000	0.42949	1.495000	0.35627	1.390000	0.46547	0.585000	0.79938	CAA		0.323	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		12	1241	1	0	0.000157383	0.000157383	0.00973904	12	1241					A	55906923	C	A	55906923	3	1	123	1	0	0	0	0	1	0	0	0	15129	595	21	3	172	3	SPO11	20	55906923	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6388312	55906923	7118597	363	38549											
CTCFL	140690	broad.mit.edu	37	chr20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgggtgttaacatggttccGcagcagagtgaccgtacgga	15	8	0	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56094287G>A	ENST00000608263.1	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	301					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(901-903)Cgg>Tgg		CCCTC-binding factor (zinc finger protein)-like							95	95	95					20																	56094287		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094287G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.901C>T	20.37:g.56094287G>A	ENSP00000476783:p.Arg301Trp					CTCFL_ENST00000422109.2_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.2_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.2_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W	p.R301W			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1562	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		301					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.901C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238725	0.39598	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.25	0.582	0.17412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001079	T	0.25531	0.0621	M	0.69523	2.12	0.38434	D	0.946527	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;0.995;1.0;1.0;1.0;1.0;1.0	T	0.10847	-1.0612	10	0.72032	D	0.01	-42.7671	14.3281	0.66534	0.0:0.0:0.3805:0.6195	.	301;301;301;301;301;301;301;301	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	W	301;301;301;301;301;39;301;301;301;96;301	ENSP00000415579:R301W;ENSP00000243914:R301W;ENSP00000360239:R301W;ENSP00000415329:R301W;ENSP00000392034:R301W;ENSP00000437999:R39W;ENSP00000413713:R301W;ENSP00000403369:R301W;ENSP00000409344:R301W;ENSP00000439998:R96W;ENSP00000399061:R301W	ENSP00000243914:R301W	R	-	1	2	CTCFL	55527693	0.611000	0.26992	0.073000	0.20177	0.072000	0.16883	0.855000	0.27805	0.255000	0.21593	-0.293000	0.09583	CGG		0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		6	493	0	0	0	8.12818e-05	0	6	493					A	56094287	G	A	56094287	3	1	123	1	0	0	0	0	1	0	0	0	4012	1086	38	1	1122	1	CTCFL	20	56094287	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	187364	56094287	6931233	364	38550											
ZBP1	81030	broad.mit.edu	37	chr20	56189968	56189968	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cggtaaatcgtccatgctttGgactgctcatccatgtccag	9	12	1	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56189968G>T	ENST00000371173.3	-	4	654	c.477C>A	c.(475-477)tcC>tcA	p.S159S	ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000395822.3_Silent_p.S84S|ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000340462.4_Silent_p.S136S|ZBP1_ENST00000343535.4_Silent_p.S159S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	159					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)			TCCATGCTTTGGACTGCTCAT	0.557																																						ENST00000340462.4																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(406-408)tcC>tcA		Z-DNA binding protein 1							194	152	166					20																	56189968		2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56189968G>T	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.477C>A	20.37:g.56189968G>T						ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000371173.3_Silent_p.S159S|ZBP1_ENST00000395822.3_Silent_p.S84S	p.S136S			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		3	688	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		159					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.408C>A	CCDS13461.1																																																																																				0.557	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		10	732	1	0	0.000151284	0.000151284	0.00973904	10	732					T	56189968	G	T	56189968	2	4	123	1	0	0	0	0	0	0	0	1	17574	1335	47	3		3	ZBP1	20	56189968	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	95681	56189968	6835552	365	38551											
CDH4	1002	broad.mit.edu	37	chr20	60511971	60511971	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccagattcaagaagctggcGgacatgtatggaggtggtga	15	7	1	3	rs374087046		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:60511971G>A	ENST00000360469.5	+	16	2809	c.2721G>A	c.(2719-2721)gcG>gcA	p.A907A	CDH4_ENST00000543233.1_Silent_p.A833A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	907					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)			AGAAGCTGGCGGACATGTATG	0.602																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2719-2721)gcG>gcA		cadherin 4, type 1, R-cadherin (retinal)		G		0,4406		0,0,2203	79	57	64		2721	-1.1	1	20		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		907/917	60511971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511971G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2721G>A	20.37:g.60511971G>A						CDH4_ENST00000543233.1_Silent_p.A833A	p.A907A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2809	+			907					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2721G>A	CCDS13488.1																																																																																				0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		10	245	0	0	0	2.17888e-05	0	10	245					A	60511971	G	A	60511971	2	1	123	1	0	0	0	0	0	0	0	1	3121	1103	39	1		1	CDH4	20	60511971	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4322003	60511971	2513549	366	38552											
C21orf59	56683	broad.mit.edu	37	chr21	33982250	33982250	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	caatttcaattcttcaatctGatcatcggtcagtccttgca	5	11	6	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:33982250G>T	ENST00000290155.3	-	2	827	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	C21orf59_ENST00000540881.1_Intron|AP000275.65_ENST00000553001.1_Missense_Mutation_p.Q69K|C21orf59_ENST00000382549.4_Missense_Mutation_p.Q69K	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	69						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTCAATCTGATCATCGGTC	0.393																																						ENST00000382549.4																			0				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						c.(205-207)Cag>Aag		chromosome 21 open reading frame 59							131	116	121					21																	33982250		2203	4300	6503	SO:0001583	missense	56683					cytosol|nucleus		g.chr21:33982250G>T	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"chromosome 21 open reading frame 48"	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.205C>A	21.37:g.33982250G>T	ENSP00000290155:p.Gln69Lys					C21orf59_ENST00000540881.1_Intron|C21orf59_ENST00000290155.3_Missense_Mutation_p.Q69K|C21ORF59_ENST00000607686.1_Missense_Mutation_p.Q69K	p.Q69K			P57076	CU059_HUMAN			2	547	-			69					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.205C>A	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930476	0.73327	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000458138	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.91872	3.25	0.80722	D	1	B;B;B;B	0.26081	0.141;0.043;0.007;0.012	B;B;B;B	0.29524	0.08;0.103;0.012;0.012	T	0.80569	-0.1324	9	0.59425	D	0.04	-21.6651	18.8173	0.92081	0.0:0.0:1.0:0.0	.	69;69;69;69	C9J818;P57076;D3DSE6;Q96NJ2	.;CU059_HUMAN;.;.	K	69;69;69;69;69;52	.	ENSP00000290155:Q69K	Q	-	1	0	C21orf59	32904121	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.536000	0.98067	2.746000	0.94184	0.655000	0.94253	CAG		0.393	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1	NM_021254		11	336	1	0	6.40141e-05	6.40141e-05	0.00496729	11	336					T	33982250	G	T	33982250	3	4	123	1	0	0	0	0	1	0	0	0	2137	1299	45	3	691	3	C21orf59	21	33982250	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08		33982250	14147645	367	38553											
SYNJ1	8867	broad.mit.edu	37	chr21	34051075	34051075	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	gctgtcaaagaagttattctGaattgttcgggtaacagagc	11	6	2	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:34051075G>T	ENST00000322229.7	-	11	1389	c.1390C>A	c.(1390-1392)Cag>Aag	p.Q464K	SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000382499.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K			O43426	SYNJ1_HUMAN	synaptojanin 1	464					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						AAGTTATTCTGAATTGTTCGG	0.378																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1507-1509)Cag>Aag		synaptojanin 1							94	92	93					21																	34051075		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34051075G>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1390C>A	21.37:g.34051075G>T	ENSP00000322234:p.Gln464Lys					SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q464K|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K	p.Q503K	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			12	1506	-			464			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1507C>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482666	0.96307	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.99	5.99	0.97316	.	0.118964	0.64402	D	0.000008	T	0.44705	0.1306	L	0.39020	1.185	0.80722	D	1	P;P;D;P;D	0.67145	0.64;0.719;0.994;0.739;0.996	B;B;P;P;D	0.72982	0.243;0.348;0.904;0.574;0.979	T	0.14755	-1.0461	10	0.54805	T	0.06	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	467;503;464;464;464	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	K	467;464;503;503;464;467	ENSP00000371931:Q467K;ENSP00000349903:Q464K;ENSP00000371939:Q503K;ENSP00000409667:Q503K;ENSP00000322234:Q464K;ENSP00000413649:Q467K	ENSP00000322234:Q464K	Q	-	1	0	SYNJ1	32972946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.814000	0.99346	2.840000	0.97914	0.655000	0.94253	CAG		0.378	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	592	1	0	5.50884e-06	0.00010058	0.000617672	10	592					T	34051075	G	T	34051075	3	4	123	1	0	0	0	0	1	0	0	0	15504	1299	45	3	3440	3	SYNJ1	21	34051075	Missense_Mutation	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	68825	34051075	14078820	368	38554											
SUMO3	6612	broad.mit.edu	37	chr21	46233942	46233942	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctcagcggcgtgtgcctcttGatcttgaactgcaccacgga	11	13	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:46233942G>T	ENST00000397898.3	-	2	181	c.99C>A	c.(97-99)atC>atA	p.I33I	SUMO3_ENST00000411651.2_Silent_p.I33I|SUMO3_ENST00000332859.6_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397893.3_Silent_p.I33I					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGTGCCTCTTGATCTTGAACT	0.622																																						ENST00000332859.6																			0				prostate(1)	1						c.(97-99)atC>atA		small ubiquitin-like modifier 3							179	158	165					21																	46233942		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233942G>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"SMT3 (suppressor of mif two 3, yeast) homolog 1", "SMT3 suppressor of mif two 3 homolog 3 (yeast)", "SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.99C>A	21.37:g.46233942G>T						SUMO3_ENST00000397893.3_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397898.3_Silent_p.I33I|SUMO3_ENST00000411651.2_Silent_p.I33I	p.I33I	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	259	-			33			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.99C>A																																																																																					0.622	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1			13	642	1	0	5.3912e-06	7.07596e-05	0.000617672	13	642					T	46233942	G	T	46233942	2	4	123	1	0	0	0	0	0	0	0	1	15441	1280	45	3		3	SUMO3	21	46233942	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	12182867	46233942	1895953	369	38555											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-													tgcagcagcagcagcagctcCagcagcagcagcagcagcag					rs374794651		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	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)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	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.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	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)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		13	173						13	173	---	---	---	---	-	20918918	CAG	-	20918916	7	5	123	1	0	1	0	1	0	0	0	0	9474	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-YB-A89D-01A-12D-A36O-08		20918916	30385650	370	38556											
MYO18B	84700	broad.mit.edu	37	chr22	26219559	26219559	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgaggagctgaacacggccaCcttcaagcaccaccttcgac	9	15	1	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:26219559C>T	ENST00000407587.2	+	13	2778	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I	MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I|MYO18B_ENST00000335473.7_Missense_Mutation_p.T870I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	870	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T870I(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						AACACGGCCACCTTCAAGCAC	0.577																																						ENST00000335473.7																			1	Substitution - Missense(1)	p.T870I(1)	prostate(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						c.(2608-2610)aCc>aTc		myosin XVIIIB							167	166	167					22																	26219559		2100	4218	6318	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219559C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2609C>T	22.37:g.26219559C>T	ENSP00000386096:p.Thr870Ile					MYO18B_ENST00000407587.2_Missense_Mutation_p.T870I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I	p.T870I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			13	2859	+			870			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2609C>T		.	.	.	.	.	.	.	.	.	.	C	13.11	2.139738	0.37728	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.69040	-0.37;-0.37;-0.37	4.73	3.47	0.39725	Myosin head, motor domain (2);	0.306844	0.29932	N	0.010821	T	0.54806	0.1881	L	0.28776	0.89	0.34621	D	0.718623	P;D;P;D	0.54207	0.708;0.965;0.946;0.957	B;P;P;P	0.52217	0.249;0.693;0.462;0.567	T	0.58864	-0.7561	10	0.13108	T	0.6	.	4.1753	0.10349	0.0:0.6771:0.0:0.3229	.	383;870;870;870	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	870	ENSP00000441229:T870I;ENSP00000334563:T870I;ENSP00000386096:T870I	ENSP00000334563:T870I	T	+	2	0	MYO18B	24549559	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.574000	0.60900	2.327000	0.79052	0.448000	0.29417	ACC		0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		194	539	0	0	0	0.000147903	0	194	539					T	26219559	C	T	26219559	3	4	123	1	0	0	0	0	1	0	0	0	10107	507	18	2	2655	2	MYO18B	22	26219559	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	5300643	26219559	25085007	371	38557											
FBXO7	25793	broad.mit.edu	37	chr22	32894260	32894260	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctaggccatttcctagctccCgccttcctccaggaattatc	6	16	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:32894260C>A	ENST00000266087.7	+	9	1639	c.1312C>A	c.(1312-1314)Cgc>Agc	p.R438S	FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S|FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	438	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTAGCTCCCGCCTTCCTCC	0.527																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1312-1314)Cgc>Agc		F-box protein 7							150	147	148					22																	32894260		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894260C>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1312C>A	22.37:g.32894260C>A	ENSP00000266087:p.Arg438Ser					FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S|FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S	p.R438S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			9	1639	+			438					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1312C>A	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	1.553	-0.538761	0.04053	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.71817	-0.6;-0.02;-0.02	5.93	1.15	0.20763	F-box domain, Skp2-like (1);	1.008250	0.07943	N	0.979622	T	0.46073	0.1374	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.29427	-1.0012	10	0.15499	T	0.54	-6.3306	6.6719	0.23074	0.3606:0.4872:0.0:0.1522	.	438;359;438	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	S	438;359;324	ENSP00000266087:R438S;ENSP00000371490:R359S;ENSP00000380571:R324S	ENSP00000266087:R438S	R	+	1	0	FBXO7	31224260	0.053000	0.20554	0.217000	0.23759	0.865000	0.49528	0.317000	0.19487	0.812000	0.34326	0.655000	0.94253	CGC		0.527	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			7	594	1	0	8.12818e-05	8.12818e-05	0.00618932	7	594					A	32894260	C	A	32894260	3	1	123	1	0	0	0	0	1	0	0	0	5785	652	23	3	1387	3	FBXO7	22	32894260	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6674701	32894260	18410306	372	38558											
MGAT3	4248	broad.mit.edu	37	chr22	39884255	39884255	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ttcctcacccaggacggcgtCtcgcggctgcgcaacctgcg	12	17	2	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884255C>A	ENST00000341184.6	+	2	1118	c.903C>A	c.(901-903)gtC>gtA	p.V301V		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	301					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)					AGGACGGCGTCTCGCGGCTGC	0.657																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(901-903)gtC>gtA		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							59	61	60					22																	39884255		2202	4296	6498	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884255C>A	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.903C>A	22.37:g.39884255C>A							p.V301V	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1118	+	Melanoma(58;0.04)		301					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.903C>A	CCDS13994.2																																																																																				0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		77	520	1	0	5.88917e-42	0.000147903	8.83123e-40	77	520					A	39884255	C	A	39884255	2	1	123	1	0	0	0	0	0	0	0	1	9585	900	32	3		3	MGAT3	22	39884255	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	6989995	39884255	11420311	373	38559			1	33		3	3	382	C		1.104606e-05
MGAT3	4248	broad.mit.edu	37	chr22	39884489	39884489	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gtgtatgggctggacggcatCcgcctgcgccgccgccagta	15	14	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884489C>T	ENST00000341184.6	+	2	1352	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		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	379					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)					TGGACGGCATCCGCCTGCGCC	0.647																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1135-1137)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							41	44	43					22																	39884489		2203	4299	6502	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884489C>T	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.1137C>T	22.37:g.39884489C>T							p.I379I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1352	+	Melanoma(58;0.04)		379					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1137C>T	CCDS13994.2																																																																																				0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		46	353	0	0	0	0.000147903	0	46	353					T	39884489	C	T	39884489	2	4	123	1	0	0	0	0	0	0	0	1	9585	845	30	2		2	MGAT3	22	39884489	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	234	39884489	11420077	374	38560			1	33		3	3	382	C		1.104606e-05
MGAT3	4248	broad.mit.edu	37	chr22	39884636	39884636	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tgcttcacgcccgagggcatCtacttcaagctcgtgtccgc	10	15	3	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884636C>T	ENST00000341184.6	+	2	1499	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		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	428					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)					CCGAGGGCATCTACTTCAAGC	0.652																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1282-1284)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							55	52	53					22																	39884636		2203	4300	6503	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884636C>T	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.1284C>T	22.37:g.39884636C>T							p.I428I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	1499	+	Melanoma(58;0.04)		428					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1284C>T	CCDS13994.2																																																																																				0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		18	150	0	0	0	7.07596e-05	0	18	150					T	39884636	C	T	39884636	2	4	123	1	0	0	0	0	0	0	0	1	9585	903	32	2		2	MGAT3	22	39884636	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	147	39884636	11419930	375	38561			1	33		3	3	382	C		1.104606e-05
TNRC6B	23112	broad.mit.edu	37	chr22	40662002	40662002	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagtcataactctggcCgtcggtcgtacaggcccaca	11	13	2	1			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:40662002C>T	ENST00000454349.2	+	5	1979	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R590C|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	590	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						TAACTCTGGCCGTCGGTCGTA	0.527																																						ENST00000454349.2																			0				breast(1)	1						c.(1768-1770)Cgt>Tgt		trinucleotide repeat containing 6B							108	113	111					22																	40662002		2001	4172	6173	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662002C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1768C>T	22.37:g.40662002C>T	ENSP00000401946:p.Arg590Cys					TNRC6B_ENST00000335727.8_Missense_Mutation_p.R590C|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron	p.R590C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			5	1979	+			590					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.1768C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539333	0.45176	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.14022	2.56;2.54	5.53	5.53	0.82687	.	0.106556	0.64402	D	0.000003	T	0.23965	0.0580	N	0.22421	0.69	0.50467	D	0.999871	D;D;D	0.89917	1.0;0.998;0.996	D;B;P	0.76575	0.988;0.446;0.649	T	0.01276	-1.1398	10	0.56958	D	0.05	-4.2093	14.3069	0.66391	0.1485:0.8515:0.0:0.0	.	590;590;590	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	590	ENSP00000401946:R590C;ENSP00000338371:R590C	ENSP00000338371:R590C	R	+	1	0	TNRC6B	38991948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.492000	0.53259	2.607000	0.88179	0.555000	0.69702	CGT		0.527	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				74	612	0	0	0	0.000147903	0	74	612					T	40662002	C	T	40662002	3	4	123	1	0	0	0	0	1	0	0	0	16393	652	23	1	1907	1	TNRC6B	22	40662002	Missense_Mutation	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	777366	40662002	10642564	376	38562											
EFCAB6	64800	broad.mit.edu	37	chr22	44127685	44127685	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttgtggatgttgtagtgtttCgaaaacctaaaatacaaatg	9	4	0	0			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:44127685C>A	ENST00000262726.7	-	8	904	c.651G>T	c.(649-651)tcG>tcT	p.S217S	EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000358439.4_Silent_p.S111S|EFCAB6_ENST00000356087.4_Silent_p.S111S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	217					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)				TGTAGTGTTTCGAAAACCTAA	0.333																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(649-651)tcG>tcT		EF-hand calcium binding domain 6							110	101	104					22																	44127685		2202	4299	6501	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44127685C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.651G>T	22.37:g.44127685C>A						EFCAB6_ENST00000358439.4_Silent_p.S111S|EFCAB6_ENST00000356087.4_Silent_p.S111S|EFCAB6_ENST00000396231.2_Silent_p.S65S	p.S217S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			8	904	-		Ovarian(80;0.0247)|all_neural(38;0.025)	217					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.651G>T	CCDS14049.1																																																																																				0.333	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		13	579	1	0	1.49906e-05	1.49906e-05	0.00153956	13	579					A	44127685	C	A	44127685	2	1	123	1	0	0	0	0	0	0	0	1	4955	871	31	3		3	EFCAB6	22	44127685	Silent	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	3465683	44127685	7176881	377	38563											
TRMU	55687	broad.mit.edu	37	chr22	46746285	46746285	+	Frame_Shift_Del	DEL	G	G	-													aggagaaccatcttccctctGgggggattaacgaaagagtt							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:46746285delG	ENST00000290846.4	+	5	916	c.576delG	c.(574-576)ctgfs	p.L192fs	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Frame_Shift_Del_p.L192fs	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	192					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCTTCCCTCTGGGGGGATTAA	0.478																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(574-576)ctfs		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							82	89	87					22																	46746285		2203	4300	6503	SO:0001589	frameshift_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46746285delG	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.576delG	22.37:g.46746285delG	ENSP00000290846:p.Leu192fs					TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Frame_Shift_Del_p.L192fs	p.L192fs	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	5	916	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	192					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Frame_Shift_Del	DEL	ENST00000290846.4	37	c.576delG	CCDS14075.1																																																																																				0.478	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		8	669						8	669	---	---	---	---	-	46746285	G	-	46746285	7	5	123	1	0	1	0	1	0	0	0	0	16624	1335	47	0	594	0	TRMU	22	46746285	Frame_Shift_Del	DEL	G	TCGA-YB-A89D-01A-12D-A36O-08	2618600	46746285	4558281	378	38564											
CPT1B	1375	broad.mit.edu	37	chr22	51012928	51012928	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ctgacgcaactcacaggcttGatttcttcacggtccagttt	8	12	3	2			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:51012928G>T	ENST00000360719.2	-	8	1016	c.879C>A	c.(877-879)atC>atA	p.I293I	CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000440709.1_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	293					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)		TCACAGGCTTGATTTCTTCAC	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(877-879)atC>atA		carnitine palmitoyltransferase 1B (muscle)							197	159	172					22																	51012928		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012928G>T	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.879C>A	22.37:g.51012928G>T						CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000440709.1_Silent_p.I293I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000312108.7_Silent_p.I293I	p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		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)	8	1016	-		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)	293					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.879C>A	CCDS14098.1																																																																																				0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		15	558	1	0	9.7654e-05	9.7654e-05	0.0072096	15	558					T	51012928	G	T	51012928	2	4	123	1	0	0	0	0	0	0	0	1	3841	1280	45	3		3	CPT1B	22	51012928	Silent	SNP	G	TCGA-YB-A89D-01A-12D-A36O-08	4266643	51012928	291638	379	38565											
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-													agaagctgatgaaaaacatcAgagagagagagagtttgtaa							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		7	292						7	292	---	---	---	---	-	16850850	AG	-	16850849	7	5	123	1	0	1	0	1	0	0	0	0	16843	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-YB-A89D-01A-12D-A36O-08		16850849	138419711	380	38566											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-													accttaatattatcaccccaCcccccccaccagatgaagtg							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117	111	113					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		7	455						7	455	---	---	---	---	-	37312611	C	-	37312611	7	5	123	1	0	1	0	1	0	0	0	0	12652	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-YB-A89D-01A-12D-A36O-08	20461762	37312611	117957949	381	38567											
RLIM	51132	broad.mit.edu	37	chrX	73811695	73811695	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgagctagtttctgaActttcaccaccggaactgga	8	10	3	2	rs374955178		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chrX:73811695A>G	ENST00000332687.6	-	4	1673	c.1455T>C	c.(1453-1455)agT>agC	p.S485S	RLIM_ENST00000349225.2_Silent_p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	485	Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGTTTCTGAACTTTCACCAc	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1453-1455)agT>agC		ring finger protein, LIM domain interacting							35	32	33					X																	73811695		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811695A>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"RING-type (C3HC4) zinc fingers"	13429	protein-coding gene	gene with protein product	"ring zinc finger protein NY-REN-43antigen", "LIM domain interacting ring finger protein"	300379	"ring finger protein 12"	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1455T>C	X.37:g.73811695A>G						RLIM_ENST00000349225.2_Silent_p.S485S	p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1673	-			485			Ser-rich.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1455T>C	CCDS14427.1																																																																																				0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	117	0	0	0	1.12685e-05	0	4	117					G	73811695	A	G	73811695	2	3	123	1	0	0	0	0	0	0	0	1	13440	40	2	4		4	RLIM	23	73811695	Silent	SNP	A	TCGA-YB-A89D-01A-12D-A36O-08	36499084	73811695	81458865	382	38568											
RPS6KA6	27330	broad.mit.edu	37	chrX	83372157	83372157	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gaggcattccaagttttgctCtgaaacagaggattttagaa	10	6	1	3			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:83372157C>A	ENST00000262752.2	-	11	868		c.e11-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						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						AAGTTTTGCTCTGAAACAGAG	0.323																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.e11-1		ribosomal protein S6 kinase, 90kDa, polypeptide 6							42	40	41					X																	83372157		2202	4294	6496	SO:0001630	splice_region_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83372157C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.861-1G>T	X.37:g.83372157C>A						RPS6KA6_ENST00000543399.1_Splice_Site		NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			11	868	-								B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Splice_Site	SNP	ENST00000262752.2	37		CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869083	0.72065	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0306	0.86460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA6	83258813	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.552000	0.82192	2.028000	0.59812	0.600000	0.82982	.		0.323	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	Intron	6	219	1	0	0.000157383	0.000157383	0.00973904	6	219					A	83372157	C	A	83372157	5	1	123	1	0	0	0	0	0	0	1	0	13705	927	32	3	1425	3	RPS6KA6	23	83372157	Splice_Site	SNP	C	TCGA-YB-A89D-01A-12D-A36O-08	9560462	83372157	71898403	383	38569											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	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)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	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.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		7	253						7	253	---	---	---	---	-	149639635	GCA	-	149639633	7	5	123	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-YB-A89D-01A-12D-A36O-08	66267476	149639633	5630927	384	38570											
VAMP7	6845	broad.mit.edu	37	chrX	155169433	155169435	+	In_Frame_Del	DEL	TAT	TAT	-													atgaagaacctcaagctcacTattatcatcatcatcgtatc							TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-11A-11D-A36O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	57931b50-0532-4aec-90d4-ab54b5f42142	g.chrX:155169433_155169435delTAT	ENST00000286448.6	+	7	735_737	c.570_572delTAT	c.(568-573)actatt>act	p.I195del	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000262640.6_In_Frame_Del_p.Y169del|VAMP7_ENST00000460621.1_In_Frame_Del_p.I154del	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	195					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAAGCTCACTATTATCATCATC	0.355																																						ENST00000286448.6																			0				large_intestine(1)|lung(8)	9						c.(568-573)act>ac		vesicle-associated membrane protein 7																																				SO:0001651	inframe_deletion	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155169433_155169435delTAT	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"Pseudoautosomal regions / PAR2", "Vesicle-associated membrane proteins"	11486	protein-coding gene	gene with protein product		300053	"synaptobrevin-like 1"	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.570_572delTAT	X.37:g.155169436_155169438delTAT	ENSP00000286448:p.Ile195del					VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_In_Frame_Del_p.TI149del|VAMP7_ENST00000262640.6_In_Frame_Del_p.Y169del	p.TI190del	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN			7	735_737	+	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)		190					Q53GY7|Q7Z409|Q9H4A7	In_Frame_Del	DEL	ENST00000286448.6	37	c.570_572delTAT	CCDS14770.4																																																																																				0.355	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638		7	1170						7	1170	---	---	---	---	-	155169435	TAT	-	155169433	7	5	123	1	0	1	0	1	0	0	0	0	17171	1522	53	0	592	0	VAMP7	23	155169433	In_Frame_Del	DEL	TAT	TCGA-YB-A89D-01A-12D-A36O-08	5529800	155169433	101127	385	38571											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809344	18809344	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccgctccccagtgacacgttCgccctggcgcacacggccac	10	20	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:18809344C>T	ENST00000400664.1	+	1	1921	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	623						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)		GTGACACGTTCGCCCTGGCGC	0.667																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1867-1869)ttC>ttT		kelch domain containing 7A							23	25	24					1																	18809344		2198	4292	6490	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809344C>T	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1869C>T	1.37:g.18809344C>T							p.F623F	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1921	+		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)	623					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1869C>T	CCDS185.2																																																																																				0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		12	99	0	0	0	1	0	12	99					T	18809344	C	T	18809344	2	4	124	1	0	0	0	0	0	0	0	1	8390	883	31	1		1	KLHDC7A	1	18809344	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		18809344	230441277	1	38572											
MECR	51102	broad.mit.edu	37	chr1	29543100	29543100	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gccacagaaaccaaggttacCttggatcatatttatgtcag	8	9	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:29543100C>A	ENST00000263702.6	-	2	299	c.274G>T	c.(274-276)Gga>Tga	p.G92*	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000373791.3_Splice_Site_p.G16*			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	92					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCAAGGTTACCTTGGATCATA	0.458																																						ENST00000373791.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11						c.e2+1		mitochondrial trans-2-enoyl-CoA reductase							216	221	219					1																	29543100		2203	4300	6503	SO:0001630	splice_region_variant	51102				fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	g.chr1:29543100C>A		CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.274+1G>T	1.37:g.29543100C>A						MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Splice_Site_p.G92_splice	p.G16_splice	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)	2	418	-		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	92					B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Splice_Site	SNP	ENST00000263702.6	37	c.46_splice	CCDS30659.1	.	.	.	.	.	.	.	.	.	.	C	38	7.283297	0.98186	.	.	ENSG00000116353	ENST00000373791;ENST00000263702;ENST00000373792	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5119	0.67794	0.0:1.0:0.0:0.0	.	.	.	.	X	16;92;4	.	.	G	-	1	0	MECR	29415687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.673000	0.74482	2.802000	0.96397	0.655000	0.94253	GGA		0.458	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130740.1	NM_016011	Nonsense_Mutation	169	707	1	0	1.58721e-73	1	1.72487e-73	169	707					A	29543100	C	A	29543100	5	1	124	1	0	0	0	0	0	0	1	0	9465	695	24	3	883	3	MECR	1	29543100	Splice_Site	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	10733756	29543100	219707521	2	38573											
STK40	83931	broad.mit.edu	37	chr1	36807372	36807372	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctgttatttccgcaggtagCgctgcgccaggatggccgtg	15	11	0	0	rs372595502		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:36807372C>T	ENST00000373129.3	-	12	1698	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	STK40_ENST00000373132.3_Missense_Mutation_p.R431H|STK40_ENST00000373130.3_Missense_Mutation_p.R436H|STK40_ENST00000359297.2_3'UTR	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	431					glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CCGCAGGTAGCGCTGCGCCAG	0.672																																						ENST00000373129.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13						c.(1291-1293)cGc>cAc		serine/threonine kinase 40		C	HIS/ARG	0,4406		0,0,2203	44	48	47		1292	4.3	1	1		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	STK40	NM_032017.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	431/436	36807372	1,13005	2203	4300	6503	SO:0001583	missense	83931					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:36807372C>T	BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.1292G>A	1.37:g.36807372C>T	ENSP00000362221:p.Arg431His					STK40_ENST00000359297.2_3'UTR|STK40_ENST00000373130.3_Missense_Mutation_p.R436H|STK40_ENST00000373132.3_Missense_Mutation_p.R431H	p.R431H	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN			12	1698	-		Myeloproliferative disorder(586;0.0393)	431					D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	ENST00000373129.3	37	c.1292G>A	CCDS407.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431035	0.62844	0.0	1.16E-4	ENSG00000196182	ENST00000373129;ENST00000373130;ENST00000373132	T;T;T	0.68765	-0.34;-0.35;-0.34	5.18	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	L	0.27053	0.805	0.49051	D	0.999748	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.964	T	0.73895	-0.3838	10	0.87932	D	0	-21.1861	12.6841	0.56938	0.0:0.9199:0.0:0.0801	.	436;431	Q8N2I9-4;Q8N2I9	.;STK40_HUMAN	H	431;436;431	ENSP00000362221:R431H;ENSP00000362222:R436H;ENSP00000362224:R431H	ENSP00000362221:R431H	R	-	2	0	STK40	36579959	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.378000	0.79679	1.177000	0.42855	0.563000	0.77884	CGC		0.672	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022592.1	NM_032017		55	221	0	0	0	1	0	55	221					T	36807372	C	T	36807372	3	4	124	1	0	0	0	0	1	0	0	0	15359	768	27	1	19	1	STK40	1	36807372	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	7264272	36807372	212443249	3	38574											
PTCH2	8643	broad.mit.edu	37	chr1	45288266	45288266	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcagggaggaggatgCcccccacctaagcccgcctc	14	16	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:45288266C>T	ENST00000372192.3	-	22	3563	c.3433G>A	c.(3433-3435)Gca>Aca	p.A1145T	RNU5E-6P_ENST00000365574.1_RNA|PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1145					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)					GAGGAGGATGCCCCCCACCTA	0.627									Basal Cell Nevus syndrome																													ENST00000372192.3																			0				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						c.(3433-3435)Gca>Aca		patched 2							84	89	87					1																	45288266		2203	4300	6503	SO:0001583	missense	8643	Basal Cell Nevus syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45288266C>T	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.3433G>A	1.37:g.45288266C>T	ENSP00000361266:p.Ala1145Thr					PTCH2_ENST00000447098.2_Intron	p.A1145T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN			22	3563	-	Acute lymphoblastic leukemia(166;0.155)		1145					O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.3433G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	c	9.847	1.192670	0.21954	.	.	ENSG00000117425	ENST00000372192	D	0.92299	-3.01	3.92	-7.85	0.01192	.	3.801910	0.00674	N	0.000646	T	0.76371	0.3978	N	0.08118	0	0.19945	N	0.999941	B	0.06786	0.001	B	0.08055	0.003	T	0.72782	-0.4189	10	0.13470	T	0.59	6.7686	0.1418	0.00084	0.2555:0.2463:0.2154:0.2828	.	1145	Q9Y6C5	PTC2_HUMAN	T	1145	ENSP00000361266:A1145T	ENSP00000361266:A1145T	A	-	1	0	PTCH2	45060853	0.000000	0.05858	0.000000	0.03702	0.355000	0.29361	-3.348000	0.00503	-2.059000	0.00894	-0.921000	0.02739	GCA		0.627	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		5	446	0	0	0	1	0	5	446					T	45288266	C	T	45288266	3	4	124	1	0	0	0	0	1	0	0	0	12778	739	26	2	202	2	PTCH2	1	45288266	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	8480894	45288266	203962355	4	38575											
ELAVL4	1996	broad.mit.edu	37	chr1	50642759	50642759	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tctctttttaatatttccacAggacagagtttagggtatgg	9	6	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:50642759A>G	ENST00000371823.4	+	3	474		c.e3-1		ELAVL4_ENST00000357083.4_Splice_Site|ELAVL4_ENST00000448907.2_Splice_Site|ELAVL4_ENST00000371827.1_Splice_Site|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371819.1_Splice_Site|ELAVL4_ENST00000371821.1_Splice_Site|ELAVL4_ENST00000371824.1_Splice_Site|ELAVL4_ENST00000492299.1_Splice_Site	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4						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						ATATTTCCACAGGACAGAGTT	0.403																																						ENST00000371824.1																			0				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						c.e3-1		ELAV like neuron-specific RNA binding protein 4							63	62	63					1																	50642759		2203	4300	6503	SO:0001630	splice_region_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642759A>G	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.251-1A>G	1.37:g.50642759A>G						ELAVL4_ENST00000371819.1_Splice_Site|ELAVL4_ENST00000492299.1_Splice_Site|ELAVL4_ENST00000371823.4_Splice_Site|ELAVL4_ENST00000448907.2_Splice_Site|ELAVL4_ENST00000357083.4_Splice_Site|ELAVL4_ENST00000371827.1_Splice_Site|ELAVL4_ENST00000371821.1_Splice_Site				P26378	ELAV4_HUMAN			3	507	+								B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Splice_Site	SNP	ENST00000371823.4	37		CCDS553.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339651	0.60963	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7759	0.78214	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELAVL4	50415346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.703000	0.91344	2.308000	0.77769	0.533000	0.62120	.		0.403	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952	Intron	20	176	0	0	0	1	0	20	176					G	50642759	A	G	50642759	5	3	124	1	0	0	0	0	0	0	1	0	5070	202	7	4	358	4	ELAVL4	1	50642759	Splice_Site	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	5354493	50642759	198607862	5	38576											
HFM1	164045	broad.mit.edu	37	chr1	91739306	91739306	+	Silent	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gatggttcttgtctaactttTccatagatttcaggctgatc	8	8	3	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91739306T>A	ENST00000370425.3	-	34	3833	c.3735A>T	c.(3733-3735)ggA>ggT	p.G1245G	HFM1_ENST00000370424.3_Silent_p.G924G|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Silent_p.G477G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1245					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)		GTCTAACTTTTCCATAGATTT	0.313																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3733-3735)ggA>ggT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							149	131	137					1																	91739306		2203	4298	6501	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91739306T>A	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.3735A>T	1.37:g.91739306T>A						HFM1_ENST00000294696.5_Silent_p.G477G|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.G924G	p.G1245G	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	34	3833	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1245					B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.3735A>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	2.695	-0.272273	0.05716	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.75	2.13	0.27403	.	.	.	.	.	T	0.10680	0.0261	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	4.7459	0.13036	0.0:0.1688:0.1611:0.6701	.	.	.	.	V	457	.	.	E	-	2	0	HFM1	91511894	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	0.682000	0.25335	0.105000	0.17753	0.533000	0.62120	GAA		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		55	584	0	0	0	1	0	55	584					A	91739306	T	A	91739306	2	1	124	1	0	0	0	0	0	0	0	1	7113	1770	62	5		5	HFM1	1	91739306	Silent	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	41096547	91739306	157511315	6	38577											
HFM1	164045	broad.mit.edu	37	chr1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatacttctaaattttgCcgcttacaataacattaagg	5	7	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:91846537C>T	ENST00000370425.3	-	7	903	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	269					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A269T(1)		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)		CTAAATTTTGCCGCTTACAAT	0.219																																						ENST00000370425.3																			1	Substitution - Missense(1)	p.A269T(1)	kidney(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(805-807)Gca>Aca		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							54	63	60					1																	91846537		2194	4294	6488	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846537C>T	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.805G>A	1.37:g.91846537C>T	ENSP00000359454:p.Ala269Thr					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.A269T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	7	903	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	269					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.805G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054465	0.19907	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.58797	0.31	5.81	2.87	0.33458	.	0.000000	0.45606	U	0.000360	T	0.29093	0.0723	L	0.54323	1.7	0.80722	D	1	B;B	0.15719	0.014;0.002	B;B	0.08055	0.003;0.003	T	0.09100	-1.0690	10	0.23891	T	0.37	.	8.468	0.32969	0.0:0.5885:0.0:0.4115	.	269;269	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	269;302;128	ENSP00000359454:A269T	ENSP00000359454:A269T	A	-	1	0	HFM1	91619125	0.079000	0.21365	0.903000	0.35520	0.987000	0.75469	0.529000	0.23019	0.339000	0.23719	-0.136000	0.14681	GCA		0.219	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	409	0	0	0	1	0	5	409					T	91846537	C	T	91846537	3	4	124	1	0	0	0	0	1	0	0	0	7113	739	26	2	3634	2	HFM1	1	91846537	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	107231	91846537	157404084	7	38578											
AKNAD1	254268	broad.mit.edu	37	chr1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agttgatccttccgtggcccTttttctccacgttttgcttc	7	13	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413																																						ENST00000370001.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						c.(1858-1860)aAg>aGg		AKNA domain containing 1							183	188	186					1																	109369904		2203	4299	6502	SO:0001583	missense	254268							g.chr1:109369904T>C	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1859A>G	1.37:g.109369904T>C	ENSP00000359018:p.Lys620Arg					AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN			11	2127	-			620					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	ENST00000370001.3	37	c.1859A>G	CCDS791.2	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586061	0.28268	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.87	1.29	0.21616	.	1.029790	0.07724	N	0.944149	T	0.06962	0.0177	L	0.36672	1.1	0.09310	N	1	B;B	0.15719	0.014;0.005	B;B	0.12156	0.007;0.004	T	0.40496	-0.9560	10	0.35671	T	0.21	-2.1788	6.0331	0.19690	0.0:0.3909:0.0:0.6091	.	327;620	B4DET8;Q5T1N1	.;AKND1_HUMAN	R	620;327;590;620	ENSP00000359018:K620R;ENSP00000349968:K327R;ENSP00000359011:K590R;ENSP00000359012:K620R	ENSP00000349968:K327R	K	-	2	0	AKNAD1	109171427	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	0.136000	0.15974	0.125000	0.18397	0.379000	0.24179	AAG		0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		6	950	0	0	0	1	0	6	950					C	109369904	T	C	109369904	3	2	124	1	0	0	0	0	1	0	0	0	464	1609	56	4	675	4	AKNAD1	1	109369904	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	17523367	109369904	139880717	8	38579											
WDR77	79084	broad.mit.edu	37	chr1	111991320	111991320	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcctccgtttggactccggcGgagcagaagccttcgttggg	15	12	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:111991320G>A	ENST00000235090.5	-	2	428	c.222C>T	c.(220-222)tcC>tcT	p.S74S	ATP5F1_ENST00000483994.1_5'Flank|WDR77_ENST00000411751.2_Silent_p.S74S|WDR77_ENST00000497278.1_5'Flank|Y_RNA_ENST00000363020.1_RNA|ATP5F1_ENST00000369722.3_5'Flank	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	74					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGACTCCGGCGGAGCAGAAGC	0.622																																						ENST00000235090.5																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(220-222)tcC>tcT		WD repeat domain 77							28	29	29					1																	111991320		2192	4268	6460	SO:0001819	synonymous_variant	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111991320G>A	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"WD repeat domain containing"	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.222C>T	1.37:g.111991320G>A						WDR77_ENST00000411751.2_Silent_p.S74S	p.S74S	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	428	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	74					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Silent	SNP	ENST00000235090.5	37	c.222C>T	CCDS835.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880414	0.33255	.	.	ENSG00000116455	ENST00000449340	.	.	.	5.73	-1.3	0.09259	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30679	-0.9970	4	.	.	.	-18.7416	1.0705	0.01620	0.3009:0.1646:0.3524:0.1822	.	.	.	.	L	11	.	.	P	-	2	0	WDR77	111792843	0.818000	0.29161	0.995000	0.50966	0.991000	0.79684	-0.097000	0.11042	0.077000	0.16863	0.561000	0.74099	CCG		0.622	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		4	172	0	0	0	1	0	4	172					A	111991320	G	A	111991320	2	1	124	1	0	0	0	0	0	0	0	1	17381	1103	39	1		1	WDR77	1	111991320	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	2621416	111991320	137259301	9	38580											
NGF	4803	broad.mit.edu	37	chr1	115829176	115829176	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cacacggggtgaacggagtcGccgctttttaaacagcctgg	13	11	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:115829176G>A	ENST00000369512.2	-	3	409	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	81					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)	GAACGGAGTCGCCGCTTTTTA	0.642																																						ENST00000369512.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(241-243)Cga>Tga		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						41	46	44					1																	115829176		2203	4300	6503	SO:0001587	stop_gained	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829176G>A		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.241C>T	1.37:g.115829176G>A	ENSP00000358525:p.Arg81*					RP4-663N10.1_ENST00000425449.1_RNA	p.R81*	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN		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)	3	409	-	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)	81					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Nonsense_Mutation	SNP	ENST00000369512.2	37	c.241C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640906	0.87859	.	.	ENSG00000134259	ENST00000369512	.	.	.	5.06	3.05	0.35203	.	0.058013	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.0674	11.9013	0.52685	0.0:0.0:0.5284:0.4716	.	.	.	.	X	81	.	ENSP00000358525:R81X	R	-	1	2	NGF	115630699	0.998000	0.40836	0.836000	0.33094	0.748000	0.42578	3.935000	0.56560	0.536000	0.28733	0.467000	0.42956	CGA		0.642	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		22	143	0	0	0	1	0	22	143					A	115829176	G	A	115829176	4	1	124	1	0	0	0	0	0	1	0	0	10437	1095	38	1	488	1	NGF	1	115829176	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	3837856	115829176	133421445	10	38581											
NPR1	4881	broad.mit.edu	37	chr1	153661467	153661467	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaacctgctgtcccGcatggagcagtacgcgaaca	11	14	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:153661467G>A	ENST00000368680.3	+	16	2928	c.2456G>A	c.(2455-2457)cGc>cAc	p.R819H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	819					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)	CTGCTGTCCCGCATGGAGCAG	0.627																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2455-2457)cGc>cAc		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						129	114	119					1																	153661467		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153661467G>A	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.2456G>A	1.37:g.153661467G>A	ENSP00000357669:p.Arg819His						p.R819H	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2928	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		819					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2456G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107454	0.77096	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62498	0.02	3.35	3.35	0.38373	Protein kinase-like domain (1);	0.221107	0.37483	N	0.002064	T	0.79070	0.4384	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.972	D	0.83584	0.0119	10	0.66056	D	0.02	.	12.9982	0.58660	0.0:0.0:1.0:0.0	.	298;819	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	819;298	ENSP00000357669:R819H	ENSP00000357669:R819H	R	+	2	0	NPR1	151928091	1.000000	0.71417	0.998000	0.56505	0.604000	0.37047	9.509000	0.98002	2.170000	0.68504	0.455000	0.32223	CGC		0.627	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		5	605	0	0	0	1	0	5	605					A	153661467	G	A	153661467	3	1	124	1	0	0	0	0	1	0	0	0	10636	1087	38	1	2518	1	NPR1	1	153661467	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	37832291	153661467	95589154	11	38582											
COPA	1314	broad.mit.edu	37	chr1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T													ccaccgcaccaggggacaggINSttttttttcctcagaccttt							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)aacfs	p.N171fs	Y_RNA_ENST00000365208.1_RNA|COPA_ENST00000368069.3_Frame_Shift_Ins_p.N171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(511-513)actfs		coatomer protein complex, subunit alpha																																				SO:0001589	frameshift_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160295426_160295427insT	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.513dupA	1.37:g.160295434_160295434dupT	ENSP00000241704:p.Asn171fs					COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs	p.T171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	741_742	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		171					Q5T201|Q8IXZ9	Frame_Shift_Ins	INS	ENST00000241704.7	37	c.512_513insA	CCDS1202.1																																																																																				0.406	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	581						7	581	---	---	---	---	T	160295427	-	T	160295426	7	5	124	1	0	1	1	0	0	0	0	0	3736	1252	44	0	3296	0	COPA	1	160295426	Frame_Shift_Ins	INS	-	TCGA-YH-A8SY-01A-11D-A377-08	6633959	160295426	88955195	12	38583											
C1orf114	57821	broad.mit.edu	37	chr1	169391135	169391135	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaaacatattcctttcGttttcaaaataatttttaaa	1	8	1	0	rs80127542	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:169391135G>A	ENST00000367806.3	-	3	686	c.534C>T	c.(532-534)aaC>aaT	p.N178N	CCDC181_ENST00000545005.1_Silent_p.N178N|CCDC181_ENST00000367805.3_Silent_p.N178N|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	178						nucleus (GO:0005634)											TATTCCTTTCGTTTTCAAAAT	0.343													G|||	21	0.00419329	0.0008	0.0	5008	,	,		19981	0.0188		0.0	False		,,,				2504	0.001					ENST00000545005.1																			0											c.(532-534)aaC>aaT		coiled-coil domain containing 181		G		1,4405	2.1+/-5.4	0,1,2202	71	77	75		534	1.7	1	1	dbSNP_132	75	1,8595	1.2+/-3.3	0,1,4297	yes	coding-synonymous	C1orf114	NM_021179.1		0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154		178/509	169391135	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	57821							g.chr1:169391135G>A	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 114"	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.534C>T	1.37:g.169391135G>A						CCDC181_ENST00000367806.3_Silent_p.N178N|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.N178N	p.N178N							4	1041	-								O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.534C>T																																																																																					0.343	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		63	349	0	0	0	1	0	63	349					A	169391135	G	A	169391135	2	1	124	1	0	0	0	0	0	0	0	1	1994	1136	40	1		1	C1orf114	1	169391135	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	9095709	169391135	79859486	13	38584											
RASAL2	9462	broad.mit.edu	37	chr1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A													acaaggatgtggaaaaaaagINSaaaaaaaaggacaagaataa							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:178412040_178412041insA	ENST00000462775.1	+	6	839_840	c.714_715insA	c.(715-717)aaafs	p.K239fs	RASAL2_ENST00000448150.3_Frame_Shift_Ins_p.K369fs|RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.K387fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	239	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1107)aaaaaafs		RAS protein activator like 2																																				SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178412040_178412041insA	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.722dupA	1.37:g.178412048_178412048dupA	ENSP00000420558:p.Lys239fs					RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs|RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs	p.KK368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			8	1922_1923	+			238			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Ins	INS	ENST00000462775.1	37	c.1104_1105insA	CCDS1322.1																																																																																				0.406	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		7	462						7	462	---	---	---	---	A	178412041	-	A	178412040	7	5	124	1	0	1	1	0	0	0	0	0	13114	933	33	0	1205	0	RASAL2	1	178412040	Frame_Shift_Ins	INS	-	TCGA-YH-A8SY-01A-11D-A377-08	9020905	178412040	70838581	14	38585											
SYT2	127833	broad.mit.edu	37	chr1	202568444	202568444	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcttgagcctctTgccattctgcatcaggtgga	8	12	6	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:202568444T>G	ENST00000367267.1	-	8	1147	c.955A>C	c.(955-957)Aag>Cag	p.K319Q	SYT2_ENST00000367268.4_Missense_Mutation_p.K319Q	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	319	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTGAGCCTCTTGCCATTCTGC	0.532																																						ENST00000367267.1																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(955-957)Aag>Cag		synaptotagmin II	Botulinum Toxin Type B(DB00042)						271	256	261					1																	202568444		2203	4300	6503	SO:0001583	missense	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202568444T>G	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.955A>C	1.37:g.202568444T>G	ENSP00000356236:p.Lys319Gln					SYT2_ENST00000367268.4_Missense_Mutation_p.K319Q	p.K319Q	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		8	1147	-			319			C2 2.|Phospholipid binding (By similarity).		Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	c.955A>C	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881455	0.91740	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.72835	-0.69;-0.69	5.21	5.21	0.72293	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.102327	0.64402	D	0.000003	T	0.72977	0.3528	N	0.25060	0.705	0.80722	D	1	D	0.60575	0.988	D	0.63192	0.912	T	0.76971	-0.2761	10	0.66056	D	0.02	.	14.7397	0.69445	0.0:0.0:0.0:1.0	.	319	Q8N9I0	SYT2_HUMAN	Q	319	ENSP00000356237:K319Q;ENSP00000356236:K319Q	ENSP00000356236:K319Q	K	-	1	0	SYT2	200835067	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.897000	0.87356	1.957000	0.56846	0.460000	0.39030	AAG		0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402		58	427	0	0	0	1	0	58	427					G	202568444	T	G	202568444	3	3	124	1	0	0	0	0	1	0	0	0	15526	1821	63	4	312	4	SYT2	1	202568444	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	24156404	202568444	46682177	15	38586											
USH2A	7399	broad.mit.edu	37	chr1	215987140	215987140	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttggttgtgcctcctgtattCggccaccacaacaaactcca	7	14	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:215987140C>T	ENST00000307340.3	-	49	10063	c.9677G>A	c.(9676-9678)cGa>cAa	p.R3226Q	USH2A_ENST00000366943.2_Missense_Mutation_p.R3226Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3226					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)		CTCCTGTATTCGGCCACCACA	0.453										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9676-9678)cGa>cAa		Usher syndrome 2A (autosomal recessive, mild)							131	120	123					1																	215987140		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215987140C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9677G>A	1.37:g.215987140C>T	ENSP00000305941:p.Arg3226Gln	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.R3226Q	p.R3226Q			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	49	10063	-			3226					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9677G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656431	0.47467	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12255	2.71;2.7	5.8	1.02	0.19986	Fibronectin, type III (2);	0.228496	0.22457	U	0.059807	T	0.04318	0.0119	N	0.21240	0.645	0.09310	N	1	P	0.48503	0.911	B	0.31946	0.138	T	0.30621	-0.9972	10	0.08599	T	0.76	.	2.9934	0.05990	0.3129:0.3248:0.0:0.3623	.	3226	O75445	USH2A_HUMAN	Q	3226	ENSP00000305941:R3226Q;ENSP00000355910:R3226Q	ENSP00000305941:R3226Q	R	-	2	0	USH2A	214053763	0.340000	0.24792	0.341000	0.25589	0.810000	0.45777	0.862000	0.27899	0.596000	0.29794	-0.282000	0.10007	CGA		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		103	372	0	0	0	1	0	103	372					T	215987140	C	T	215987140	3	4	124	1	0	0	0	0	1	0	0	0	17090	884	31	1	6027	1	USH2A	1	215987140	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	13418696	215987140	33263481	16	38587											
FMN2	56776	broad.mit.edu	37	chr1	240371129	240371129	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcccccacttcccggagCgggcataccccctcctcccc	7	24	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:240371129C>T	ENST00000319653.9	+	5	3247	c.3017C>T	c.(3016-3018)gCg>gTg	p.A1006V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1006	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)			CTTCCCGGAGCGGGCATACCC	0.721																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3016-3018)gCg>gTg		formin 2																																				SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371129C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3017C>T	1.37:g.240371129C>T	ENSP00000318884:p.Ala1006Val						p.A1006V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3247	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1006			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3017C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936326	0.18206	.	.	ENSG00000155816	ENST00000319653	T	0.54279	0.58	3.48	-2.07	0.07276	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	1.529670	0.04424	N	0.368096	T	0.25082	0.0609	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07271	-1.0781	9	.	.	.	.	1.3919	0.02252	0.147:0.3598:0.149:0.3442	.	1006	Q9NZ56	FMN2_HUMAN	V	1006	ENSP00000318884:A1006V	.	A	+	2	0	FMN2	238437752	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.591000	0.02100	-0.244000	0.09639	-0.359000	0.07587	GCG		0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	72	0	0	0	1	0	7	72					T	240371129	C	T	240371129	3	4	124	1	0	0	0	0	1	0	0	0	5975	768	27	1	3035	1	FMN2	1	240371129	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	24383989	240371129	8879492	17	38588			1	34		3	3	232	N	G_C	7.359097e-07
FMN2	56776	broad.mit.edu	37	chr1	240371343	240371343	+	Silent	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgggcataccccctccGcccccacttcccggagcggg	13	19	0	0	rs200416403	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:240371343G>T	ENST00000319653.9	+	5	3461	c.3231G>T	c.(3229-3231)ccG>ccT	p.P1077P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1077	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)			TACCCCCTCCGCCCCCACTTC	0.731																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3229-3231)ccG>ccT		formin 2							2	3	3					1																	240371343		1404	2882	4286	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371343G>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3231G>T	1.37:g.240371343G>T							p.P1077P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3461	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1077			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3231G>T	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	91	1	0	0.014758	1	0.014758	5	91					T	240371343	G	T	240371343	2	4	124	1	0	0	0	0	0	0	0	1	5975	1074	38	3		3	FMN2	1	240371343	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	214	240371343	8879278	18	38589			1	34		3	3	232	N	G_C	7.359097e-07
FMN2	56776	broad.mit.edu	37	chr1	240371360	240371360	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgcccccacttcccggagCgggcatacccccacctcccc	7	24	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr1:240371360C>T	ENST00000319653.9	+	5	3478	c.3248C>T	c.(3247-3249)gCg>gTg	p.A1083V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1083	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)			CTTCCCGGAGCGGGCATACCC	0.731																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3247-3249)gCg>gTg		formin 2							3	4	4					1																	240371360		1575	3256	4831	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371360C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3248C>T	1.37:g.240371360C>T	ENSP00000318884:p.Ala1083Val						p.A1083V	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3478	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1083			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3248C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	8.406	0.843099	0.16963	.	.	ENSG00000155816	ENST00000319653	T	0.54279	0.58	2.98	-1.06	0.10002	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.776716	0.10880	N	0.623887	T	0.26231	0.0640	N	0.05608	-0.01	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20806	-1.0264	9	.	.	.	.	7.1163	0.25418	0.0:0.4164:0.0:0.5836	.	1083	Q9NZ56	FMN2_HUMAN	V	1083	ENSP00000318884:A1083V	.	A	+	2	0	FMN2	238437983	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.995000	0.01472	-0.070000	0.12908	0.484000	0.47621	GCG		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	91	0	0	0	1	0	5	91					T	240371360	C	T	240371360	3	4	124	1	0	0	0	0	1	0	0	0	5975	768	27	1	3266	1	FMN2	1	240371360	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	17	240371360	8879261	19	38590			1	34		3	3	232	N	G_C	7.359097e-07
PXDN	7837	broad.mit.edu	37	chr2	1643096	1643096	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	gggtattttccgtggtcttgTtttcttggtcggcttgtcct	12	8	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:1643096T>A	ENST00000252804.4	-	20	4101	c.4051A>T	c.(4051-4053)Aca>Tca	p.T1351S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1351					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)		CGTGGTCTTGTTTTCTTGGTC	0.562																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(4051-4053)Aca>Tca		peroxidasin homolog (Drosophila)							123	127	125					2																	1643096		1982	4156	6138	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1643096T>A	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.4051A>T	2.37:g.1643096T>A	ENSP00000252804:p.Thr1351Ser						p.T1351S	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	20	4101	-	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)	1351					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.4051A>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	6.749	0.507109	0.12883	.	.	ENSG00000130508	ENST00000252804	T	0.59772	0.24	5.49	-5.44	0.02624	.	2.195000	0.01825	N	0.034285	T	0.28764	0.0713	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48636	-0.9018	10	0.02654	T	1	-4.7808	10.6794	0.45804	0.1126:0.5895:0.0:0.2979	.	1351	Q92626	PXDN_HUMAN	S	1351	ENSP00000252804:T1351S	ENSP00000252804:T1351S	T	-	1	0	PXDN	1622103	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-1.513000	0.02256	-1.322000	0.02278	0.383000	0.25322	ACA		0.562	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		6	123	0	0	0	1	0	6	123					A	1643096	T	A	1643096	3	1	124	1	0	0	0	0	1	0	0	0	12897	1725	60	5	404	5	PXDN	2	1643096	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08		1643096	241556277	20	38591											
DPYSL5	56896	broad.mit.edu	37	chr2	27150261	27150261	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tgcaaggacattggggcaatCgcccgcgtccatgctgaaaa	12	11	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:27150261C>T	ENST00000288699.6	+	4	719	c.561C>T	c.(559-561)atC>atT	p.I187I	DPYSL5_ENST00000401478.1_Silent_p.I187I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	187					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGGCAATCGCCCGCGTCC	0.527																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(559-561)atC>atT		dihydropyrimidinase-like 5							106	81	90					2																	27150261		2203	4300	6503	SO:0001819	synonymous_variant	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27150261C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.561C>T	2.37:g.27150261C>T						DPYSL5_ENST00000401478.1_Silent_p.I187I	p.I187I	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			4	719	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		187					Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	ENST00000288699.6	37	c.561C>T	CCDS1730.1																																																																																				0.527	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		52	162	0	0	0	1	0	52	162					T	27150261	C	T	27150261	2	4	124	1	0	0	0	0	0	0	0	1	4766	874	31	1		1	DPYSL5	2	27150261	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	25507165	27150261	216049112	21	38592											
TLX2	3196	broad.mit.edu	37	chr2	74742813	74742813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	taggccacccctaccaaaacCggacccctccgaagcggaag	9	17	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:74742813C>T	ENST00000233638.7	+	2	777	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	152					enteric nervous system development (GO:0048484)|mesoderm formation (GO:0001707)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|ovary(1)	2						CTACCAAAACCGGACCCCTCC	0.657																																					Esophageal Squamous(7;240 533 18610 24312)	ENST00000233638.7																			0				kidney(1)|ovary(1)	2						c.(454-456)Cgg>Tgg		T-cell leukemia homeobox 2							50	58	55					2																	74742813		2203	4300	6503	SO:0001583	missense	3196					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74742813C>T	AJ002607	CCDS1947.1	2p13.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000115297	ENSG00000115297		"Homeoboxes / ANTP class : NKL subclass"	5057	protein-coding gene	gene with protein product		604240	"homeo box 11-like 1", "T-cell leukemia, homeobox 2"	HOX11L1		10343123	Standard	NM_016170		Approved	Enx, Tlx2, NCX	uc002sma.2	O43763	OTTHUMG00000129960	ENST00000233638.7:c.454C>T	2.37:g.74742813C>T	ENSP00000233638:p.Arg152Trp						p.R152W	NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN			2	777	+			152					Q9UD56|Q9UQ48	Missense_Mutation	SNP	ENST00000233638.7	37	c.454C>T	CCDS1947.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191186	0.78902	.	.	ENSG00000115297	ENST00000233638	D	0.95756	-3.8	4.29	3.41	0.39046	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.47093	D	0.000253	D	0.97204	0.9086	M	0.80982	2.52	0.54753	D	0.999983	D	0.89917	1.0	D	0.76575	0.988	D	0.97145	0.9827	10	0.87932	D	0	.	11.3327	0.49485	0.1828:0.8172:0.0:0.0	.	152	O43763	TLX2_HUMAN	W	152	ENSP00000233638:R152W	ENSP00000233638:R152W	R	+	1	2	TLX2	74596321	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.778000	0.62368	1.015000	0.39444	-0.152000	0.13540	CGG		0.657	TLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252224.3			55	302	0	0	0	1	0	55	302					T	74742813	C	T	74742813	3	4	124	1	0	0	0	0	1	0	0	0	16013	643	23	1	460	1	TLX2	2	74742813	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	47592552	74742813	168456560	22	38593											
TGOLN2	10618	broad.mit.edu	37	chr2	85554675	85554675	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcttttggagtctgCggctccggatgcgacttggt	16	9	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:85554675C>T	ENST00000409232.3	-	2	241	c.180G>A	c.(178-180)ccG>ccA	p.P60P	TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000377386.3_Silent_p.P60P			O43493	TGON2_HUMAN	trans-golgi network protein 2	60	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGGAGTCTGCGGCTCCGGAT	0.597																																						ENST00000377386.3																			0											c.(178-180)ccG>ccA		trans-golgi network protein 2							94	97	96					2																	85554675		1964	4147	6111	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554675C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.180G>A	2.37:g.85554675C>T						TGOLN2_ENST00000444342.2_Silent_p.P60P|TGOLN2_ENST00000409015.1_Silent_p.P60P|TGOLN2_ENST00000398263.2_Silent_p.P60P|TGOLN2_ENST00000282120.2_Silent_p.P60P|TGOLN2_ENST00000409232.3_Silent_p.P60P	p.P60P			O43493	TGON2_HUMAN			2	642	-			60			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.180G>A	CCDS56126.1																																																																																				0.597	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		7	847	0	0	0	1	0	7	847					T	85554675	C	T	85554675	2	4	124	1	0	0	0	0	0	0	0	1	15888	755	27	1		1	TGOLN2	2	85554675	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	10811862	85554675	157644698	23	38594											
AFF3	3899	broad.mit.edu	37	chr2	100210257	100210257	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggcctggttttggtgggctcCggggggaccaccacgctcgt	17	12	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:100210257C>T	ENST00000409236.2	-	13	1978	c.1866G>A	c.(1864-1866)ccG>ccA	p.P622P	AFF3_ENST00000356421.2_Silent_p.P647P|AFF3_ENST00000317233.4_Silent_p.P622P|AFF3_ENST00000409579.1_Silent_p.P647P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	622					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						TGGTGGGCTCCGGGGGGACCA	0.736																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1864-1866)ccG>ccA		AF4/FMR2 family, member 3							25	31	29					2																	100210257		2203	4294	6497	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210257C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1866G>A	2.37:g.100210257C>T						AFF3_ENST00000409579.1_Silent_p.P647P|AFF3_ENST00000409236.1_Silent_p.P622P|AFF3_ENST00000356421.2_Silent_p.P647P	p.P622P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			14	2101	-			622					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.1866G>A	CCDS42723.1																																																																																				0.736	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		9	166	0	0	0	1	0	9	166					T	100210257	C	T	100210257	2	4	124	1	0	0	0	0	0	0	0	1	358	639	23	1		1	AFF3	2	100210257	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	14655582	100210257	142989116	24	38595											
IL1R2	7850	broad.mit.edu	37	chr2	102638648	102638649	+	Splice_Site	INS	-	-	A													tttccttacatctttctcagINSaaaaaaaagaagagaccatt							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000441002.1_Splice_Site|IL1R2_ENST00000393414.2_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						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						ATCTTTCTCAGAAAAAAAAGAA	0.441																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.e6-1		interleukin 1 receptor, type II	Anakinra(DB00026)																																			SO:0001630	splice_region_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638648_102638649insA	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.689-1->A	2.37:g.102638656_102638656dupA						IL1R2_ENST00000393414.2_Splice_Site|IL1R2_ENST00000441002.1_Splice_Site		NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			6	917_918	+								D3DVJ5|Q6LCE6|Q9UE68	Splice_Site	INS	ENST00000332549.3	37		CCDS2054.1																																																																																				0.441	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	Intron	8	1257						8	1257	---	---	---	---	A	102638649	-	A	102638648	8	5	124	1	0	1	1	0	0	0	1	0	7689	956	33	0	706	0	IL1R2	2	102638648	Splice_Site	INS	-	TCGA-YH-A8SY-01A-11D-A377-08	2428391	102638648	140560725	25	38596											
ANKRD57	65124	broad.mit.edu	37	chr2	110373192	110373192	+	Frame_Shift_Del	DEL	A	A	-													acatcagggactacagtgggAaaaaggcctcccagtacctg							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:110373192delA	ENST00000356454.3	+	1	1282	c.1126delA	c.(1126-1128)aaafs	p.K377fs	SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000545389.1_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	377																	CTACAGTGGGAAAAAGGCCTC	0.652																																						ENST00000356454.3																			0											c.(1126-1128)aafs		sosondowah ankyrin repeat domain family member C							47	55	52					2																	110373192		2203	4300	6503	SO:0001589	frameshift_variant	65124							g.chr2:110373192delA	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1126delA	2.37:g.110373192delA	ENSP00000365830:p.Lys377fs						p.K377fs	NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN			1	1282	+			377					Q8NE15|Q9H6U1	Frame_Shift_Del	DEL	ENST00000356454.3	37	c.1126delA	CCDS33270.1																																																																																				0.652	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		7	269						7	269	---	---	---	---	-	110373192	A	-	110373192	7	5	124	1	0	1	0	1	0	0	0	0	683	247	9	0	1128	0	ANKRD57	2	110373192	Frame_Shift_Del	DEL	A	TCGA-YH-A8SY-01A-11D-A377-08	7734544	110373192	132826181	26	38597											
STEAP3	55240	broad.mit.edu	37	chr2	120005557	120005557	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgtgcgtggcctacgtGctgctgtcactcgtgtactt	12	13	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:120005557G>A	ENST00000354888.5	+	4	1299	c.795G>A	c.(793-795)gtG>gtA	p.V265V	STEAP3_ENST00000393108.2_Silent_p.V265V|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Silent_p.V265V|STEAP3_ENST00000393106.2_Silent_p.V265V|STEAP3_ENST00000450943.2_Silent_p.V265V|STEAP3_ENST00000409811.1_Silent_p.V265V|STEAP3_ENST00000393107.2_Silent_p.V265V|STEAP3_ENST00000393110.2_Silent_p.V275V	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	265	Ferric oxidoreductase.				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						TGGCCTACGTGCTGCTGTCAC	0.647																																						ENST00000354888.5																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						c.(793-795)gtG>gtA		STEAP family member 3, metalloreductase							85	82	83					2																	120005557		2203	4300	6503	SO:0001819	synonymous_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120005557G>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.795G>A	2.37:g.120005557G>A						STEAP3_ENST00000425223.2_Silent_p.V265V|STEAP3_ENST00000393110.2_Silent_p.V275V|STEAP3_ENST00000450943.2_Silent_p.V265V|STEAP3_ENST00000393108.2_Silent_p.V265V|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Silent_p.V265V|STEAP3_ENST00000393106.2_Silent_p.V265V|STEAP3_ENST00000393107.2_Silent_p.V265V	p.V265V	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN			4	1299	+			265			Ferric oxidoreductase.		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	c.795G>A	CCDS2125.1																																																																																				0.647	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		7	385	0	0	0	1	0	7	385					A	120005557	G	A	120005557	2	1	124	1	0	0	0	0	0	0	0	1	15331	1306	46	2		2	STEAP3	2	120005557	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	9632365	120005557	123193816	27	38598											
R3HDM1	23518	broad.mit.edu	37	chr2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-													ctccaccgccaccaccaccaCctcctcctcctcccctacca					rs139457585		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)cctdel	p.P605del	R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	605	Poly-Pro.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1801-1803)del		R3H domain containing 1																																				SO:0001651	inframe_deletion	23518						nucleic acid binding	g.chr2:136409480_136409482delCCT	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1801_1803delCCT	2.37:g.136409489_136409491delCCT	ENSP00000264160:p.Pro605del					R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del	p.P605del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2171_2173	+			605			Poly-Pro.		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	In_Frame_Del	DEL	ENST00000264160.4	37	c.1801_1803delCCT	CCDS2177.1																																																																																				0.586	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		8	358						8	358	---	---	---	---	-	136409482	CCT	-	136409480	7	5	124	1	0	1	0	1	0	0	0	0	12937	507	18	0	1859	0	R3HDM1	2	136409480	In_Frame_Del	DEL	CCT	TCGA-YH-A8SY-01A-11D-A377-08	16403923	136409480	106789893	28	38599											
MARCH7	64844	broad.mit.edu	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-													gcttctagcatgtcatctacTtttttttcacgaagatctag							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(877-879)acfs		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							63	64	64					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	64844						ligase activity|zinc ion binding	g.chr2:160604680delT	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs					MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs	p.T293fs	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1001	+			293			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	ENST00000259050.4	37	c.879delT	CCDS2210.1																																																																																				0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		10	492						10	492	---	---	---	---	-	160604680	T	-	160604680	7	5	124	1	0	1	0	1	0	0	0	0	9347	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-YH-A8SY-01A-11D-A377-08	24195200	160604680	82594693	29	38600											
TTN	7273	broad.mit.edu	37	chr2	179596076	179596076	+	Frame_Shift_Del	DEL	T	T	-													atctttgtattcctgcatcaTttttggcctgacagacatat							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:179596076delT	ENST00000591111.1	-	57	16690	c.16466delA	c.(16465-16467)aatfs	p.N5489fs	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.N5806fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.N4562fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12317	Ig-like 35.				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)			TCCTGCATCATTTTTGGCCTG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17416-17418)atfs		titin							275	268	270					2																	179596076		1939	4145	6084	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179596076delT	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.16466delA	2.37:g.179596076delT	ENSP00000465570:p.Asn5489fs					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.N5489fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.N4562fs|TTN_ENST00000342175.6_Intron	p.N5806fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		59	17641	-			5489			Ig-like 39.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.17417delA																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	1452						7	1452	---	---	---	---	-	179596076	T	-	179596076	7	5	124	1	0	1	0	1	0	0	0	0	16789	1493	52	0	87328	0	TTN	2	179596076	Frame_Shift_Del	DEL	T	TCGA-YH-A8SY-01A-11D-A377-08	18991396	179596076	63603297	30	38601											
HDLBP	3069	broad.mit.edu	37	chr2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcaccttgcgaattttgCcgccccccttgccgatgagg	11	16	0	1	rs199968516		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {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)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170	158	162					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		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.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		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)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		5	587	0	0	0	1	0	5	587					T	242179464	C	T	242179464	3	4	124	1	0	0	0	0	1	0	0	0	7055	739	26	2	1607	2	HDLBP	2	242179464	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	62583388	242179464	1019909	31	38602											
ATP2B2	491	broad.mit.edu	37	chr3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccccagggagatgatggcgGcaatctccaggatgatgagc	15	10	1	4			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:10452358G>A	ENST00000352432.4	-	2	410	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.A114V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	114					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						GATGATGGCGGCAATCTCCAG	0.592																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(340-342)gCc>gTc		ATPase, Ca++ transporting, plasma membrane 2							177	185	182					3																	10452358		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452358G>A	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.341C>T	3.37:g.10452358G>A	ENSP00000324172:p.Ala114Val					ATP2B2_ENST00000343816.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A114V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A114V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A114V	p.A114V			Q01814	AT2B2_HUMAN			5	916	-			114					O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.341C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	36	5.774816	0.96922	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.94931	-1.87;-1.87;-1.87;-1.87;-1.87;-3.56	5.66	5.66	0.87406	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.92970	3.365	0.80722	D	1	D;D;D	0.76494	0.999;0.986;0.997	D;P;D	0.81914	0.995;0.897;0.947	D	0.98630	1.0671	10	0.87932	D	0	-37.8211	19.7543	0.96284	0.0:0.0:1.0:0.0	.	114;126;114	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	114;114;114;114;114;80;1;114	ENSP00000324172:A114V;ENSP00000373311:A114V;ENSP00000380267:A114V;ENSP00000353414:A114V;ENSP00000344677:A114V;ENSP00000414854:A1V	ENSP00000342954:A114V	A	-	2	0	ATP2B2	10427358	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.869000	0.99810	2.680000	0.91292	0.561000	0.74099	GCC		0.592	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		7	939	0	0	0	1	0	7	939					A	10452358	G	A	10452358	3	1	124	1	0	0	0	0	1	0	0	0	1141	1203	42	2	3474	2	ATP2B2	3	10452358	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		10452358	187570072	32	38603											
SLC4A7	9497	broad.mit.edu	37	chr3	27431523	27431523	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aatatggaccttccagagcgGcacataacggaggtatatca	10	9	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:27431523G>A	ENST00000295736.5	-	22	3302	c.3232C>T	c.(3232-3234)Ccg>Tcg	p.P1078S	SLC4A7_ENST00000437179.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P963S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P1070S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P1087S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P954S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P628S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1078					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TTCCAGAGCGGCACATAACGG	0.373																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3232-3234)Ccg>Tcg		solute carrier family 4, sodium bicarbonate cotransporter, member 7							143	151	149					3																	27431523		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27431523G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3232C>T	3.37:g.27431523G>A	ENSP00000295736:p.Pro1078Ser					SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P1087S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P954S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P1074S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P959S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P963S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P628S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P1070S	p.P1078S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			22	3302	-			1078					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3232C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790461	0.90367	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.31	5.31	0.75309	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	M	0.72624	2.21	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;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.982;1.0;1.0;1.0	D	0.88424	0.3030	10	0.59425	D	0.04	.	18.9786	0.92747	0.0:0.0:1.0:0.0	.	1074;959;1070;1074;1087;628;954;1078;959	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	S	629;1078;954;1087;1074;959;1070;959;1074;963;628;974	ENSP00000411031:P629S;ENSP00000295736:P1078S;ENSP00000416368:P954S;ENSP00000390394:P1087S;ENSP00000414797:P1074S;ENSP00000394252:P959S;ENSP00000406605:P1070S;ENSP00000407382:P959S;ENSP00000406804:P1074S;ENSP00000395336:P963S;ENSP00000373429:P628S;ENSP00000388703:P974S	ENSP00000295736:P1078S	P	-	1	0	SLC4A7	27406527	1.000000	0.71417	0.995000	0.50966	0.770000	0.43624	9.869000	0.99810	2.479000	0.83701	0.650000	0.86243	CCG		0.373	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		6	653	0	0	0	1	0	6	653					A	27431523	G	A	27431523	3	1	124	1	0	0	0	0	1	0	0	0	14708	1203	42	2	428	2	SLC4A7	3	27431523	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	16979165	27431523	170590907	33	38604											
FBXL2	25827	broad.mit.edu	37	chr3	33400492	33400492	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttggatatagtaactttgtgCcgatgtgcacagatttccaa	9	7	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:33400492C>T	ENST00000484457.1	+	3	190	c.99C>T	c.(97-99)tgC>tgT	p.C33C	FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000446237.3_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.C33C(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TAACTTTGTGCCGATGTGCAC	0.289																																						ENST00000484457.1																			2	Substitution - coding silent(2)	p.C33C(2)	prostate(2)	endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(97-99)tgC>tgT		F-box and leucine-rich repeat protein 2							46	46	46					3																	33400492		2200	4296	6496	SO:0001819	synonymous_variant	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33400492C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.99C>T	3.37:g.33400492C>T						FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000283627.6_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538181.1_Intron	p.C33C	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN			3	190	+			33			F-box.			Silent	SNP	ENST00000484457.1	37	c.99C>T	CCDS2658.1																																																																																				0.289	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		5	371	0	0	0	1	0	5	371					T	33400492	C	T	33400492	2	4	124	1	0	0	0	0	0	0	0	1	5741	747	26	2		2	FBXL2	3	33400492	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	5968969	33400492	164621938	34	38605											
CACNA1D	776	broad.mit.edu	37	chr3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-													tcgctcaataaatgttcgtgGatgatgatgatgatgatgat							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						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)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	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		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	437						7	437	---	---	---	---	-	53529195	GAT	-	53529193	7	5	124	1	0	1	0	1	0	0	0	0	2548	1189	41	0	2	0	CACNA1D	3	53529193	Start_Codon_Del	DEL	GAT	TCGA-YH-A8SY-01A-11D-A377-08	20128701	53529193	144493237	35	38606											
CACNA1D	776	broad.mit.edu	37	chr3	53810001	53810001	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	agtcagattacaaccccgggGaggagtatacatgtgggagc	14	8	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:53810001G>T	ENST00000350061.5	+	35	4802	c.4291G>T	c.(4291-4293)Gag>Tag	p.E1431*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1416*|CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.E1451*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.E323*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1431	Dihydropyridine binding. {ECO:0000250}.				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)	CAACCCCGGGGAGGAGTATAC	0.507																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(4351-4353)Gag>Tag		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						174	184	181					3																	53810001		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53810001G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4291G>T	3.37:g.53810001G>T	ENSP00000288133:p.Glu1431*					CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.E323*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1416*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E1431*	p.E1451*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	36	4469	+			1431			Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.4351G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	45	11.508490	0.99570	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	.	.	.	5.06	5.06	0.68205	.	0.136428	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.6072	0.91271	0.0:0.0:1.0:0.0	.	.	.	.	X	1431;1451;1416;1124;323	.	ENSP00000288139:E1451X	E	+	1	0	CACNA1D	53785041	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.657000	0.98554	2.624000	0.88883	0.650000	0.86243	GAG		0.507	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		23	554	1	0	4.26978e-12	1	4.39354e-12	23	554					T	53810001	G	T	53810001	4	4	124	1	0	0	0	0	0	1	0	0	2548	1175	41	3	4601	3	CACNA1D	3	53810001	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	280808	53810001	144212429	36	38607											
WNT5A	7474	broad.mit.edu	37	chr3	55504434	55504434	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttgccccggctgttgagccGcatggccgccgcgctgtcgt	14	16	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:55504434G>A	ENST00000474267.1	-	6	1350	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	WNT5A_ENST00000493406.1_5'Flank|WNT5A_ENST00000497027.1_Missense_Mutation_p.R262W|WNT5A_ENST00000264634.4_Missense_Mutation_p.R277W			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|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-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CTGTTGAGCCGCATGGCCGCC	0.612																																						ENST00000474267.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13						c.(829-831)Cgg>Tgg		wingless-type MMTV integration site family, member 5A							31	38	35					3																	55504434		2190	4298	6488	SO:0001583	missense	7474				activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:55504434G>A	L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"Wingless-type MMTV integration sites", "Endogenous ligands"	12784	protein-coding gene	gene with protein product	"WNT-5A protein"	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.829C>T	3.37:g.55504434G>A	ENSP00000417310:p.Arg277Trp					WNT5A_ENST00000497027.1_Missense_Mutation_p.R262W|WNT5A_ENST00000264634.4_Missense_Mutation_p.R277W	p.R277W			P41221	WNT5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)	6	1350	-			277					A8K4A4|Q6P278	Missense_Mutation	SNP	ENST00000474267.1	37	c.829C>T	CCDS46850.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789736	0.70337	.	.	ENSG00000114251	ENST00000474267;ENST00000264634;ENST00000536765;ENST00000497027	T;T;T	0.76709	-1.04;-1.04;-1.04	5.82	2.59	0.31030	.	0.138509	0.49916	D	0.000133	D	0.89121	0.6625	M	0.90542	3.125	0.49915	D	0.999835	D	0.65815	0.995	D	0.76575	0.988	D	0.90846	0.4727	10	0.87932	D	0	.	13.8804	0.63678	0.0:0.0:0.465:0.535	.	277	P41221	WNT5A_HUMAN	W	277;277;188;262	ENSP00000417310:R277W;ENSP00000264634:R277W;ENSP00000420104:R262W	ENSP00000264634:R277W	R	-	1	2	WNT5A	55479474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.813000	0.38962	0.716000	0.32124	0.655000	0.94253	CGG		0.612	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350793.3	NM_003392		4	113	0	0	0	1	0	4	113					A	55504434	G	A	55504434	3	1	124	1	0	0	0	0	1	0	0	0	17445	1086	38	1	317	1	WNT5A	3	55504434	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1694433	55504434	142517996	37	38608											
UPK1B	7348	broad.mit.edu	37	chr3	118913171	118913171	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	cctggcctcgtcaatgctgtGttatgaacaatcttaaagaa	8	9	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:118913171G>T	ENST00000264234.3	+	6	723	c.574G>T	c.(574-576)Gtt>Ttt	p.V192F	UPK1B_ENST00000460625.1_Missense_Mutation_p.V184F|UPK1B_ENST00000497685.1_Missense_Mutation_p.V112F	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	192					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)		TCAATGCTGTGTTATGAACAA	0.463																																						ENST00000264234.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14						c.(574-576)Gtt>Ttt		uroplakin 1B							158	142	147					3																	118913171		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118913171G>T	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.574G>T	3.37:g.118913171G>T	ENSP00000264234:p.Val192Phe					UPK1B_ENST00000497685.1_Missense_Mutation_p.V112F|UPK1B_ENST00000460625.1_Missense_Mutation_p.V184F	p.V192F	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	6	723	+			192					O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.574G>T	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391863	0.83011	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000460625	D;D;D	0.87179	-2.22;-2.22;-2.22	5.92	5.04	0.67666	Tetraspanin, EC2 domain (1);	0.270923	0.31847	N	0.006975	D	0.87676	0.6237	L	0.43152	1.355	0.41114	D	0.985767	P;P	0.50369	0.934;0.846	P;P	0.53593	0.73;0.452	D	0.86504	0.1805	10	0.39692	T	0.17	-20.5718	14.2934	0.66295	0.0733:0.0:0.9267:0.0	.	184;192	C9J9M7;O75841	.;UPK1B_HUMAN	F	112;192;184	ENSP00000418972:V112F;ENSP00000264234:V192F;ENSP00000418116:V184F	ENSP00000264234:V192F	V	+	1	0	UPK1B	120395861	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.124000	0.57924	2.809000	0.96659	0.467000	0.42956	GTT		0.463	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			71	367	1	0	1.2582e-26	1	1.33332e-26	71	367					T	118913171	G	T	118913171	3	4	124	1	0	0	0	0	1	0	0	0	17062	1377	48	3	592	3	UPK1B	3	118913171	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	63408737	118913171	79109259	38	38609											
CLSTN2	64084	broad.mit.edu	37	chr3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaagattgtgagcaccttcGccaaaaccgaagcccccggg	10	14	1	2	rs137889465		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					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)	p.A669T(1)		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						GAGCACCTTCGCCAAAACCGA	0.532										HNSCC(16;0.037)			G|||	1	0.000199681	0.0	0.0014	5008	,	,		18296	0.0		0.0	False		,,,				2504	0.0				GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			1	Substitution - Missense(1)	p.A669T(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(2005-2007)Gcc>Acc		calsyntenin 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	48	50	49		2005	2.5	0	3	dbSNP_134	49	0,8600		0,0,4300	no	missense	CLSTN2	NM_022131.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	669/956	140277663	2,13004	2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277663G>A	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.2005G>A	3.37:g.140277663G>A	ENSP00000402460:p.Ala669Thr	HNSCC(16;0.037)					p.A669T	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			12	2195	+			669					B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2005G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.341445	0.01277	4.54E-4	0.0	ENSG00000158258	ENST00000458420	T	0.29397	1.57	5.41	2.5	0.30297	.	0.215482	0.46442	N	0.000281	T	0.08802	0.0218	N	0.01219	-0.95	0.23376	N	0.9978	B	0.09022	0.002	B	0.04013	0.001	T	0.33163	-0.9879	9	.	.	.	-0.0386	6.6275	0.22839	0.3845:0.0:0.6155:0.0	.	669	Q9H4D0	CSTN2_HUMAN	T	669	ENSP00000402460:A669T	.	A	+	1	0	CLSTN2	141760353	0.921000	0.31238	0.031000	0.17742	0.075000	0.17131	2.120000	0.41968	0.587000	0.29643	0.650000	0.86243	GCC		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		43	192	0	0	0	1	0	43	192					A	140277663	G	A	140277663	3	1	124	1	0	0	0	0	1	0	0	0	3571	1087	38	1	2051	1	CLSTN2	3	140277663	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	21364492	140277663	57744767	39	38610											
DHX36	170506	broad.mit.edu	37	chr3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T													tctgttcctgattctaaacaINStttttttttcttgatttatc					rs373108427		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					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)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	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.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		8	352						8	352	---	---	---	---	T	154032978	-	T	154032977	7	5	124	1	0	1	1	0	0	0	0	0	4525	217	8	0	2657	0	DHX36	3	154032977	Frame_Shift_Ins	INS	-	TCGA-YH-A8SY-01A-11D-A377-08	13755314	154032977	43989453	40	38611											
ATP11B	23200	broad.mit.edu	37	chr3	182591715	182591715	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgagtttatcatgtggcCattttcatagaaccatgaac	9	7	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:182591715C>T	ENST00000323116.5	+	19	2424	c.2164C>T	c.(2164-2166)Cat>Tat	p.H722Y		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	722					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)			ATCATGTGGCCATTTTCATAG	0.398																																						ENST00000323116.5																			0				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						c.(2164-2166)Cat>Tat		ATPase, class VI, type 11B							113	100	105					3																	182591715		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182591715C>T	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.2164C>T	3.37:g.182591715C>T	ENSP00000321195:p.His722Tyr						p.H722Y	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	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)		19	2424	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		722					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.2164C>T	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883120	0.91740	.	.	ENSG00000058063	ENST00000323116	T	0.62639	0.01	5.78	5.78	0.91487	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.89904	3.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.985	D	0.86566	0.1844	10	0.87932	D	0	.	19.9991	0.97403	0.0:1.0:0.0:0.0	.	296;722	B3KSJ2;Q9Y2G3	.;AT11B_HUMAN	Y	722	ENSP00000321195:H722Y	ENSP00000321195:H722Y	H	+	1	0	ATP11B	184074409	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.440000	0.80464	2.724000	0.93272	0.655000	0.94253	CAT		0.398	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		53	283	0	0	0	1	0	53	283					T	182591715	C	T	182591715	3	4	124	1	0	0	0	0	1	0	0	0	1121	594	21	2	2238	2	ATP11B	3	182591715	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	28558738	182591715	15430715	41	38612											
ABCF3	55324	broad.mit.edu	37	chr3	183907382	183907382	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctagtcgtctcccacgaccGcaacttcttgaatgccatcg	7	16	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr3:183907382G>A	ENST00000429586.2	+	13	1336	c.1151G>A	c.(1150-1152)cGc>cAc	p.R384H	ABCF3_ENST00000292808.5_Missense_Mutation_p.R378H|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	384	ABC transporter 1. {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)			TCCCACGACCGCAACTTCTTG	0.587																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1150-1152)cGc>cAc		ATP-binding cassette, sub-family F (GCN20), member 3							76	65	69					3																	183907382		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183907382G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1151G>A	3.37:g.183907382G>A	ENSP00000411471:p.Arg384His					EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.R378H	p.R384H	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1336	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		384			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1151G>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530125	0.85706	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.94092	-3.35;-3.34	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.97120	0.9059	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.98080	1.0403	10	0.87932	D	0	-11.7264	15.7155	0.77663	0.0:0.0:1.0:0.0	.	378;384	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	H	384;378	ENSP00000411471:R384H;ENSP00000292808:R378H	ENSP00000292808:R378H	R	+	2	0	ABCF3	185390076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.186000	0.69663	0.563000	0.77884	CGC		0.587	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		4	233	0	0	0	1	0	4	233					A	183907382	G	A	183907382	3	1	124	1	0	0	0	0	1	0	0	0	67	1087	38	1	1201	1	ABCF3	3	183907382	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1315667	183907382	14115048	42	38613											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		7	261						7	261	---	---	---	---	-	56304532	CTG	-	56304530	7	5	124	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-YH-A8SY-01A-11D-A377-08		56304530	134849746	43	38614											
EPHA5	2044	broad.mit.edu	37	chr4	66230893	66230893	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tttttcctggtagtttcaaaCgtccactacaaacttcacca	4	12	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:66230893C>T	ENST00000273854.3	-	12	2678	c.2078G>A	c.(2077-2079)cGt>cAt	p.R693H	EPHA5_ENST00000354839.4_Missense_Mutation_p.R671H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R694H|EPHA5_ENST00000432638.2_Missense_Mutation_p.R530H	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	693	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.R693H(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						TAGTTTCAAACGTCCACTACA	0.358										TSP Lung(17;0.13)																												ENST00000273854.3																			2	Substitution - Missense(2)	p.R693H(2)	upper_aerodigestive_tract(1)|large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(2077-2079)cGt>cAt		EPH receptor A5							131	137	135					4																	66230893		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66230893C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2078G>A	4.37:g.66230893C>T	ENSP00000273854:p.Arg693His	TSP Lung(17;0.13)				EPHA5_ENST00000354839.4_Missense_Mutation_p.R671H|EPHA5_ENST00000511294.1_Missense_Mutation_p.R694H|EPHA5_ENST00000432638.2_Missense_Mutation_p.R530H	p.R693H	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			12	2678	-			693			Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2078G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722513	0.89298	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.97	5.97	0.96955	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	0.000017	T	0.71609	0.3360	L	0.35341	1.055	0.53688	D	0.999971	D;B;D;D	0.89917	0.996;0.033;0.995;1.0	D;B;P;D	0.66497	0.942;0.047;0.903;0.944	T	0.70364	-0.4892	10	0.49607	T	0.09	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	672;694;671;693	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	H	693;530;671;694	ENSP00000273854:R693H;ENSP00000389208:R530H;ENSP00000346899:R671H;ENSP00000427638:R694H	ENSP00000273854:R693H	R	-	2	0	EPHA5	65913488	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.308000	0.51896	2.834000	0.97654	0.650000	0.86243	CGT		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		57	347	0	0	0	1	0	57	347					T	66230893	C	T	66230893	3	4	124	1	0	0	0	0	1	0	0	0	5188	536	19	1	1063	1	EPHA5	4	66230893	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	9926363	66230893	124923383	44	38615											
THAP9	79725	broad.mit.edu	37	chr4	83827666	83827666	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaaagacttatctccGtaaagaactacaggatgatc	6	9	1	3	rs571856861		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:83827666G>A	ENST00000302236.5	+	3	517	c.466G>A	c.(466-468)Gta>Ata	p.V156I		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	156					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)				ACTTATCTCCGTAAAGAACTA	0.388																																						ENST00000302236.5																			0				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						c.(466-468)Gta>Ata		THAP domain containing 9							80	76	77					4																	83827666		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83827666G>A	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.466G>A	4.37:g.83827666G>A	ENSP00000305533:p.Val156Ile						p.V156I	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			3	517	+		Hepatocellular(203;0.114)	156					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.466G>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	7.115	0.576724	0.13686	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.35605	1.3	3.87	2.05	0.26809	.	1.248910	0.05868	N	0.624116	T	0.18841	0.0452	N	0.08118	0	0.09310	N	1	B	0.23806	0.091	B	0.17433	0.018	T	0.24584	-1.0156	10	0.21540	T	0.41	-1.8827	6.5895	0.22639	0.0:0.2004:0.5924:0.2072	.	156	Q9H5L6	THAP9_HUMAN	I	156	ENSP00000305533:V156I	ENSP00000305533:V156I	V	+	1	0	THAP9	84046690	0.002000	0.14202	0.015000	0.15790	0.903000	0.53119	0.939000	0.28978	0.556000	0.29098	0.591000	0.81541	GTA		0.388	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		6	564	0	0	0	1	0	6	564					A	83827666	G	A	83827666	3	1	124	1	0	0	0	0	1	0	0	0	15903	1145	40	1	476	1	THAP9	4	83827666	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	17596773	83827666	107326610	45	38616											
SCLT1	132320	broad.mit.edu	37	chr4	129964624	129964625	+	Splice_Site	INS	-	-	A													acaagaggagctaaaaagctINSaaaaaaagacaataaaaata							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:129964624_129964625insA	ENST00000281142.5	-	4	665		c.e4-2		SCLT1_ENST00000511426.1_Splice_Site|SCLT1_ENST00000503401.1_Splice_Site|SCLT1_ENST00000439369.2_Splice_Site|SCLT1_ENST00000506368.1_Splice_Site|SCLT1_ENST00000503215.1_Splice_Site|SCLT1_ENST00000434680.1_Splice_Site	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1						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						GCTAAAAAGCTAAAAAAAGACA	0.272																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.e4-2		sodium channel and clathrin linker 1																																				SO:0001630	splice_region_variant	132320					centrosome		g.chr4:129964624_129964625insA	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.162-2->T	4.37:g.129964631_129964631dupA						SCLT1_ENST00000434680.1_Splice_Site|SCLT1_ENST00000503401.1_Splice_Site|SCLT1_ENST00000506368.1_Splice_Site|SCLT1_ENST00000511426.1_Splice_Site|SCLT1_ENST00000503215.1_Splice_Site|SCLT1_ENST00000439369.2_Splice_Site		NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			4	665	-								A4QN04|Q0VAH2|Q6P2M4	Splice_Site	INS	ENST00000281142.5	37		CCDS3740.1																																																																																				0.272	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	Intron	8	162						8	162	---	---	---	---	A	129964625	-	A	129964624	8	5	124	1	0	1	1	0	0	0	1	0	13956	1536	53	0	1978	0	SCLT1	4	129964624	Splice_Site	INS	-	TCGA-YH-A8SY-01A-11D-A377-08	46136958	129964624	61189652	46	38617											
OTUD4	54726	broad.mit.edu	37	chr4	146058966	146058966	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgttttttctttcagGctttgaatggtccttttagg	8	6	3	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:146058966G>A	ENST00000447906.2	-	21	3148	c.2961C>T	c.(2959-2961)agC>agT	p.S987S	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.S922S			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	987					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)					TTTCTTTCAGGCTTTGAATGG	0.453																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2764-2766)agC>agT		OTU domain containing 4							127	134	131					4																	146058966		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058966G>A		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.2961C>T	4.37:g.146058966G>A						OTUD4_ENST00000447906.2_Silent_p.S987S|OTUD4_ENST00000455611.2_Intron	p.S922S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2903	-	all_hematologic(180;0.151)		986					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2766C>T																																																																																					0.453	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		6	771	0	0	0	1	0	6	771					A	146058966	G	A	146058966	2	1	124	1	0	0	0	0	0	0	0	1	11356	1194	42	2		2	OTUD4	4	146058966	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	16094342	146058966	45095310	47	38618											
TIGD4	201798	broad.mit.edu	37	chr4	153691293	153691293	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctggatgtgctggaaaagaCtcaacaaaaatcaccactct	7	10	4	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr4:153691293C>T	ENST00000304337.2	-	2	1684	c.864G>A	c.(862-864)gaG>gaA	p.E288E		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	288	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTGGAAAAGACTCAACAAAAA	0.398																																						ENST00000304337.2																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(862-864)gaG>gaA		tigger transposable element derived 4							127	135	133					4																	153691293		2203	4299	6502	SO:0001819	synonymous_variant	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153691293C>T	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.864G>A	4.37:g.153691293C>T							p.E288E	NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN			2	1684	-	all_hematologic(180;0.093)		288			DDE.		Q96LP5	Silent	SNP	ENST00000304337.2	37	c.864G>A	CCDS34079.1																																																																																				0.398	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		92	470	0	0	0	1	0	92	470					T	153691293	C	T	153691293	2	4	124	1	0	0	0	0	0	0	0	1	15950	564	20	2		2	TIGD4	4	153691293	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	7632327	153691293	37462983	48	38619											
ZNF622	90441	broad.mit.edu	37	chr5	16453182	16453182	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactcggcccacggccttccGatttttggcaactgccacag	9	15	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:16453182G>A	ENST00000308683.2	-	5	1372	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	416					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						ACGGCCTTCCGATTTTTGGCA	0.498																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(1246-1248)Cgg>Tgg		zinc finger protein 622							78	77	77					5																	16453182		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16453182G>A	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.1246C>T	5.37:g.16453182G>A	ENSP00000310042:p.Arg416Trp						p.R416W	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			5	1372	-			416						Missense_Mutation	SNP	ENST00000308683.2	37	c.1246C>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739888	0.69304	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	3.8	0.43715	.	0.533295	0.20075	N	0.099768	T	0.41236	0.1150	M	0.63843	1.955	0.24481	N	0.994344	D	0.56968	0.978	B	0.40410	0.328	T	0.44329	-0.9335	9	0.72032	D	0.01	-6.7854	14.3331	0.66572	0.0:0.0:0.5622:0.4378	.	416	Q969S3	ZN622_HUMAN	W	416	.	ENSP00000310042:R416W	R	-	1	2	ZNF622	16506182	1.000000	0.71417	0.795000	0.32087	0.980000	0.70556	2.028000	0.41088	1.336000	0.45506	0.655000	0.94253	CGG		0.498	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		9	508	0	0	0	1	0	9	508					A	16453182	G	A	16453182	3	1	124	1	0	0	0	0	1	0	0	0	18099	1057	37	1	195	1	ZNF622	5	16453182	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		16453182	164462078	49	38620											
PDZD2	23037	broad.mit.edu	37	chr5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-													tcagcatggcaaaactggcgTcctcctcctcctcccttcaa					rs61744453|rs75551718	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				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						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	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.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			9	606						9	606	---	---	---	---	-	32090061	TCC	-	32090059	7	5	124	1	0	1	0	1	0	0	0	0	11743	1667	58	0	6579	0	PDZD2	5	32090059	In_Frame_Del	DEL	TCC	TCGA-YH-A8SY-01A-11D-A377-08	15636877	32090059	148825201	50	38621											
HTR1A	3350	broad.mit.edu	37	chr5	63257304	63257304	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgacaccatgaggtcGgtgaccgccaaagagccaat	10	13	0	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:63257304G>A	ENST00000323865.3	-	1	476	c.243C>T	c.(241-243)acC>acT	p.T81T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	81					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCATGAGGTCGGTGACCGCCA	0.612																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(241-243)acC>acT		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						42	47	45					5																	63257304		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257304G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.243C>T	5.37:g.63257304G>A						RP11-158J3.2_ENST00000502882.1_RNA	p.T81T	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	476	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	81					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.243C>T	CCDS34168.1																																																																																				0.612	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		26	86	0	0	0	1	0	26	86					A	63257304	G	A	63257304	2	1	124	1	0	0	0	0	0	0	0	1	7466	1103	39	1		1	HTR1A	5	63257304	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	31167245	63257304	117657956	51	38622											
RASA1	5921	broad.mit.edu	37	chr5	86672813	86672813	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcttcacgaaaagcttgaatCgttgttgttatgcacactaa	7	8	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:86672813C>A	ENST00000274376.6	+	17	2864	c.2300C>A	c.(2299-2301)tCg>tAg	p.S767*	RASA1_ENST00000456692.2_Nonsense_Mutation_p.S590*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Nonsense_Mutation_p.S600*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S601*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	767	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)		AAGCTTGAATCGTTGTTGTTA	0.383																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(1768-1770)tCg>tAg		RAS p21 protein activator (GTPase activating protein) 1							153	142	146					5																	86672813		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86672813C>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2300C>A	5.37:g.86672813C>A	ENSP00000274376:p.Ser767*					RASA1_ENST00000512763.1_Nonsense_Mutation_p.S600*|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S601*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S767*	p.S590*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	17	1884	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	767			C2.		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.1769C>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	39	7.861260	0.98531	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.52	5.52	0.82312	.	0.056401	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.8119	0.96549	0.0:1.0:0.0:0.0	.	.	.	.	X	767;800;590;600;601	.	ENSP00000274376:S767X	S	+	2	0	RASA1	86708569	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.050000	0.71063	2.756000	0.94617	0.563000	0.77884	TCG		0.383	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		61	359	1	0	1.80625e-27	1	1.93333e-27	61	359					A	86672813	C	A	86672813	4	1	124	1	0	0	0	0	0	1	0	0	13110	893	31	3	2378	3	RASA1	5	86672813	Nonsense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	23415509	86672813	94242447	52	38623											
PCDHB3	56132	broad.mit.edu	37	chr5	140481563	140481563	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaccgtgctggtctccgacGtcaatgacaacgcccccgcc	9	17	2	1	rs558026324		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140481563G>A	ENST00000231130.2	+	1	1330	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		18391	0.0		0.0	False		,,,				2504	0.001					ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1330-1332)Gtc>Atc									101	96	98					5																	140481563		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481563G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1330G>A	5.37:g.140481563G>A	ENSP00000231130:p.Val444Ile					AC005754.7_ENST00000607216.1_RNA	p.V444I	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1330	+			444			Cadherin 4.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1330G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806788	0.16467	.	.	ENSG00000113205	ENST00000231130	T	0.01258	5.09	4.39	1.49	0.22878	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01061	0.0035	N	0.21324	0.655	0.26614	N	0.972776	B	0.20459	0.045	B	0.17098	0.017	T	0.45877	-0.9231	9	0.06625	T	0.88	.	7.9304	0.29899	0.1567:0.1339:0.7094:0.0	.	444	Q9Y5E6	PCDB3_HUMAN	I	444	ENSP00000231130:V444I	ENSP00000231130:V444I	V	+	1	0	PCDHB3	140461747	0.948000	0.32251	0.995000	0.50966	0.908000	0.53690	1.507000	0.35758	0.397000	0.25310	0.655000	0.94253	GTC		0.562	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		34	466	0	0	0	1	0	34	466					A	140481563	G	A	140481563	3	1	124	1	0	0	0	0	1	0	0	0	11585	1145	40	1	1332	1	PCDHB3	5	140481563	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	53808750	140481563	40433697	53	38624											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712177	140712177	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gacgcgctcaagcagagtctCgtggtggccgtccaggacca	14	13	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:140712177C>T	ENST00000517417.1	+	1	1926	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L	PCDHGA1_ENST00000378105.3_Silent_p.L642L	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	642	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(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)			AGCAGAGTCTCGTGGTGGCCG	0.701																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1924-1926)ctC>ctT									40	46	44					5																	140712177		2200	4297	6497	SO:0001819	synonymous_variant	0							g.chr5:140712177C>T	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.1926C>T	5.37:g.140712177C>T						PCDHGA1_ENST00000378105.3_Silent_p.L642L	p.L642L	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1926	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1926C>T	CCDS54922.1																																																																																				0.701	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		26	277	0	0	0	1	0	26	277					T	140712177	C	T	140712177	2	4	124	1	0	0	0	0	0	0	0	1	11592	871	31	1		1	PCDHGA1	5	140712177	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	230614	140712177	40203083	54	38625											
TIGD6	81789	broad.mit.edu	37	chr5	149375600	149375600	+	Frame_Shift_Del	DEL	T	T	-													atgttggccaagtttagtgcTtttttccgaatgacagaacc							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:149375600delT	ENST00000296736.3	-	2	1086	c.312delA	c.(310-312)aaafs	p.K104fs	TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	104	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					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)			AGTTTAGTGCTTTTTTCCGAA	0.423																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(310-312)aafs		tigger transposable element derived 6							169	167	168					5																	149375600		2203	4300	6503	SO:0001589	frameshift_variant	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375600delT	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.312delA	5.37:g.149375600delT	ENSP00000296736:p.Lys104fs					TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs	p.K104fs	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1086	-			104			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Frame_Shift_Del	DEL	ENST00000296736.3	37	c.312delA	CCDS4301.1																																																																																				0.423	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		7	1403						7	1403	---	---	---	---	-	149375600	T	-	149375600	7	5	124	1	0	1	0	1	0	0	0	0	15952	1606	56	0	1257	0	TIGD6	5	149375600	Frame_Shift_Del	DEL	T	TCGA-YH-A8SY-01A-11D-A377-08	8663423	149375600	31539660	55	38626											
MYOZ3	91977	broad.mit.edu	37	chr5	150050154	150050154	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcttccagaagaggcagcGccgtgtgcagaagttcactt	11	12	2	3	rs374803714		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:150050154G>A	ENST00000297130.4	+	3	369	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MYOZ3_ENST00000520112.1_5'Flank|CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Missense_Mutation_p.R57H	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2			myozenin 3											large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAGGCAGCGCCGTGTGCAG	0.582																																						ENST00000297130.4																			0				large_intestine(2)|lung(1)|skin(2)	5						c.(169-171)cGc>cAc		myozenin 3		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	54	43	47		170,170	4	1	5		47	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYOZ3	NM_001122853.1,NM_133371.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	57/252,57/252	150050154	1,13005	2203	4300	6503	SO:0001583	missense	91977					sarcomere	protein binding	g.chr5:150050154G>A	AF480443	CCDS4309.1	5q33.2	2008-07-18			ENSG00000164591	ENSG00000164591			18565	protein-coding gene	gene with protein product	"calsarcin 3", "FATZ related protein 3"	610735				11842093	Standard	NM_001122853		Approved	CS-3, CS3, FRP3	uc003lsr.3	Q8TDC0	OTTHUMG00000130077	ENST00000297130.4:c.170G>A	5.37:g.150050154G>A	ENSP00000297130:p.Arg57His					MYOZ3_ENST00000517768.1_Missense_Mutation_p.R57H	p.R57H	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	369	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	57			Binding to ACTN2, PPP3CA and TCAP.			Missense_Mutation	SNP	ENST00000297130.4	37	c.170G>A	CCDS4309.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300097	0.81136	0.0	1.16E-4	ENSG00000164591	ENST00000517768;ENST00000297130	T;T	0.66099	-0.19;-0.19	4.89	4.0	0.46444	.	0.165666	0.29185	N	0.012897	T	0.74504	0.3725	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76187	-0.3051	10	0.72032	D	0.01	-8.5437	8.1756	0.31281	0.1697:0.0:0.8303:0.0	.	57	Q8TDC0	MYOZ3_HUMAN	H	57	ENSP00000428815:R57H;ENSP00000297130:R57H	ENSP00000297130:R57H	R	+	2	0	MYOZ3	150030347	0.991000	0.36638	1.000000	0.80357	0.985000	0.73830	1.895000	0.39778	2.416000	0.81992	0.555000	0.69702	CGC		0.582	MYOZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252369.1	NM_001122853		11	72	0	0	0	1	0	11	72					A	150050154	G	A	150050154	3	1	124	1	0	0	0	0	1	0	0	0	10138	1087	38	1	176	1	MYOZ3	5	150050154	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	674554	150050154	30865106	56	38627											
KCNMB1	3779	broad.mit.edu	37	chr5	169812420	169812420	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaagggctcgtgtctctcccCgcttctgggccatcaccagc	10	16	3	0	rs201275787	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:169812420C>T	ENST00000274629.4	-	2	474	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11Q	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	TGTCTCTCCCCGCTTCTGGGC	0.537													C|||	3	0.000599042	0.0	0.0043	5008	,	,		18770	0.0		0.0	False		,,,				2504	0.0					ENST00000274629.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(31-33)cGg>cAg		potassium large conductance calcium-activated channel, subfamily M, beta member 1		C	,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	137	113	121		,32	5.1	1	5		121	9,8591	7.1+/-27.0	0,9,4291	yes	intron,missense	KCNMB1,KCNIP1	NM_001034838.1,NM_004137.2	,43	0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846	,probably-damaging	,11/192	169812420	11,12995	2203	4300	6503	SO:0001583	missense	0				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169812420C>T	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"Potassium channels"	6285	protein-coding gene	gene with protein product	"BK channel beta subunit"	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.32G>A	5.37:g.169812420C>T	ENSP00000274629:p.Arg11Gln					KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11Q	p.R11Q	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	2	474	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	11					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.32G>A	CCDS4373.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.7	4.030060	0.75504	4.54E-4	0.001047	ENSG00000145936	ENST00000274629;ENST00000521859	T;T	0.09630	2.96;2.96	5.14	5.14	0.70334	.	0.193157	0.46145	D	0.000307	T	0.28665	0.0710	L	0.57536	1.79	0.35602	D	0.807915	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.11991	-1.0565	9	.	.	.	.	14.4764	0.67548	0.0:1.0:0.0:0.0	.	11;11	Q16558-2;Q16558	.;KCMB1_HUMAN	Q	11	ENSP00000274629:R11Q;ENSP00000427940:R11Q	.	R	-	2	0	KCNMB1	169744998	1.000000	0.71417	0.998000	0.56505	0.652000	0.38707	2.535000	0.45685	2.545000	0.85829	0.655000	0.94253	CGG		0.537	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			67	291	0	0	0	1	0	67	291					T	169812420	C	T	169812420	3	4	124	1	0	0	0	0	1	0	0	0	8104	652	23	1	555	1	KCNMB1	5	169812420	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	19762266	169812420	11102840	57	38628											
HRH2	3274	broad.mit.edu	37	chr5	175110313	175110313	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caccatcaccgtggtccttgCggtcctcatcctcatcaccg	7	18	4	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:175110313C>T	ENST00000231683.2	+	1	1850	c.77C>T	c.(76-78)gCg>gTg	p.A26V	HRH2_ENST00000377291.2_Missense_Mutation_p.A26V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	26					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)			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)	GTGGTCCTTGCGGTCCTCATC	0.587																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(76-78)gCg>gTg		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						250	220	230					5																	175110313		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110313C>T		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.77C>T	5.37:g.175110313C>T	ENSP00000231683:p.Ala26Val					HRH2_ENST00000377291.2_Missense_Mutation_p.A26V	p.A26V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1850	+	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)	26					B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	ENST00000231683.2	37	c.77C>T	CCDS4395.1	.	.	.	.	.	.	.	.	.	.	C	7.665	0.685666	0.14973	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.36699	1.24;1.24	5.12	-2.99	0.05497	.	1.034600	0.07585	N	0.920974	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.31613	-0.9937	10	0.12766	T	0.61	.	6.5487	0.22420	0.0:0.2778:0.2268:0.4954	.	26;26	P25021;Q7Z5R9	HRH2_HUMAN;.	V	26	ENSP00000366506:A26V;ENSP00000231683:A26V	ENSP00000231683:A26V	A	+	2	0	HRH2	175042919	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.573000	0.02134	-0.251000	0.09542	-0.467000	0.05162	GCG		0.587	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			6	947	0	0	0	1	0	6	947					T	175110313	C	T	175110313	3	4	124	1	0	0	0	0	1	0	0	0	7386	768	27	1	79	1	HRH2	5	175110313	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	5297893	175110313	5804947	58	38629											
HK3	3101	broad.mit.edu	37	chr5	176308805	176308805	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taaatgtaaaaggatgtggcGgacgatctcccccaggtaca	11	9	1	0	rs190052913		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:176308805G>A	ENST00000292432.5	-	17	2372	c.2281C>T	c.(2281-2283)Cgc>Tgc	p.R761C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	761	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)			AGGATGTGGCGGACGATCTCC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		20033	0.001		0.0	False		,,,				2504	0.0					ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2281-2283)Cgc>Tgc		hexokinase 3 (white cell)							111	115	114					5																	176308805		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308805G>A		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.2281C>T	5.37:g.176308805G>A	ENSP00000292432:p.Arg761Cys						p.R761C	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		17	2372	-	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)	761			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2281C>T	CCDS4407.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.39	3.377756	0.61735	.	.	ENSG00000160883	ENST00000292432	D	0.98987	-5.3	4.82	3.95	0.45737	Hexokinase, C-terminal (1);	0.000000	0.53938	D	0.000048	D	0.99597	0.9854	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97583	1.0112	10	0.87932	D	0	.	13.13	0.59375	0.0786:0.0:0.9214:0.0	.	761	P52790	HXK3_HUMAN	C	761	ENSP00000292432:R761C	ENSP00000292432:R761C	R	-	1	0	HK3	176241411	1.000000	0.71417	0.996000	0.52242	0.628000	0.37860	2.855000	0.48333	1.389000	0.46526	0.561000	0.74099	CGC		0.562	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			46	371	0	0	0	1	0	46	371					A	176308805	G	A	176308805	3	1	124	1	0	0	0	0	1	0	0	0	7222	1116	39	1	502	1	HK3	5	176308805	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1198492	176308805	4606455	59	38630											
CANX	821	broad.mit.edu	37	chr5	179151711	179151728	+	In_Frame_Del	DEL	GAAGGAAGAGGAAGAAGA	GAAGGAAGAGGAAGAAGA	-													gatgcacctcaaccggatgtGaaggaagaggaagaagagaa							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:179151711_179151728delGAAGGAAGAGGAAGAAGA	ENST00000247461.4	+	13	1772_1789	c.1572_1589delGAAGGAAGAGGAAGAAGA	c.(1570-1590)gtgaaggaagaggaagaagag>gtg	p.KEEEEE525del	CANX_ENST00000415618.2_In_Frame_Del_p.KEEEEE560del|CANX_ENST00000452673.2_In_Frame_Del_p.KEEEEE525del|CANX_ENST00000512607.2_In_Frame_Del_p.KEEEEE417del|CANX_ENST00000504734.1_In_Frame_Del_p.KEEEEE525del	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	525	Sufficient to mediate interaction with SGIP1. {ECO:0000250}.				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)	AACCGGATGTGAaggaagaggaagaagagaaggaagag	0.413																																						ENST00000247461.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22						c.(1570-1590)gtg>gt		calnexin	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001651	inframe_deletion	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179151711_179151728delGAAGGAAGAGGAAGAAGA	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.1572_1589delGAAGGAAGAGGAAGAAGA	5.37:g.179151711_179151728delGAAGGAAGAGGAAGAAGA	ENSP00000247461:p.Lys525_Glu530del					CANX_ENST00000452673.2_In_Frame_Del_p.VKEEEEE524del|CANX_ENST00000504734.1_In_Frame_Del_p.VKEEEEE524del|CANX_ENST00000512607.2_In_Frame_Del_p.VKEEEEE416del|CANX_ENST00000415618.2_In_Frame_Del_p.VKEEEEE559del	p.VKEEEEE524del	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1772_1789	+	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)	524					B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	In_Frame_Del	DEL	ENST00000247461.4	37	c.1572_1589delGAAGGAAGAGGAAGAAGA	CCDS4447.1																																																																																				0.413	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		36	242						36	242	---	---	---	---	-	179151728	GAAGGAAGAGGAAGAAGA	-	179151711	7	5	124	1	0	1	0	1	0	0	0	0	2625	1277	45	0	1618	0	CANX	5	179151711	In_Frame_Del	DEL	GAAGGAAGAGGAAGAAGA	TCGA-YH-A8SY-01A-11D-A377-08	2842906	179151711	1763549	60	38631											
GFPT2	9945	broad.mit.edu	37	chr5	179763567	179763567	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	acttcgtgattattcccatcGatcgccacacctgtgatgta	7	12	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:179763567G>C	ENST00000253778.8	-	3	295	c.126C>G	c.(124-126)atC>atG	p.I42M		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	42	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)	TATTCCCATCGATCGCCACAC	0.473																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(124-126)atC>atG		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						199	206	204					5																	179763567		2040	4201	6241	SO:0001583	missense	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179763567G>C	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.126C>G	5.37:g.179763567G>C	ENSP00000253778:p.Ile42Met						p.I42M	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	295	-	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)	42			Glutamine amidotransferase type-2.		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	c.126C>G	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.910022	0.33721	.	.	ENSG00000131459	ENST00000253778	T	0.77489	-1.1	6.17	-5.21	0.02815	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.051024	0.85682	D	0.000000	D	0.83147	0.5191	M	0.79011	2.435	0.40542	D	0.981037	P	0.51449	0.945	P	0.57324	0.818	D	0.83771	0.0220	9	.	.	.	-28.7535	18.0332	0.89291	0.7778:0.0:0.2222:0.0	.	42	O94808	GFPT2_HUMAN	M	42	ENSP00000253778:I42M	.	I	-	3	3	GFPT2	179696173	0.002000	0.14202	0.243000	0.24186	0.061000	0.15899	-1.368000	0.02580	-1.095000	0.03050	-0.150000	0.13652	ATC		0.473	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		179	756	0	0	0	1	0	179	756					C	179763567	G	C	179763567	3	2	124	1	0	0	0	0	1	0	0	0	6375	1048	37	5	1990	5	GFPT2	5	179763567	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	611856	179763567	1151693	61	38632											
BTNL8	79908	broad.mit.edu	37	chr5	180374632	180374633	+	Intron	DEL	GA	GA	-													ctccaaattccagtgtaagcGagagagagaagcatgggccg							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr5:180374632_180374633delGA	ENST00000340184.4	+	4	993				BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000231229.4_Frame_Shift_Del_p.R265fs	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)cfs		butyrophilin-like 8																																				SO:0001627	intron_variant	79908					integral to membrane		g.chr5:180374632_180374633delGA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+7GA>-	5.37:g.180374640_180374641delGA						BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Intron	p.R265fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1028_1029	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	265					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	c.794_795delGA	CCDS43413.1																																																																																				0.495	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		12	1598						12	1598	---	---	---	---	-	180374633	GA	-	180374632	6	5	124	0	1	1	0	1	0	0	0	0	1571	1058	37	0		0	BTNL8	5	180374632	Intron	DEL	GA	TCGA-YH-A8SY-01A-11D-A377-08	611065	180374632	540628	62	38633											
FOXQ1	94234	broad.mit.edu	37	chr6	1313512	1313526	+	In_Frame_Del	DEL	CAACTACTGGATGCT	CAACTACTGGATGCT	-													tcgcggccctggggcaaggaCaactactggatgctcaaccc					rs112141050		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:1313512_1313526delCAACTACTGGATGCT	ENST00000296839.2	+	1	838_852	c.573_587delCAACTACTGGATGCT	c.(571-588)gacaactactggatgctc>gac	p.NYWML192del		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	192					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GGGGCAAGGACAACTACTGGATGCTCAACCCCAAC	0.707																																						ENST00000296839.2																			0				lung(1)|urinary_tract(1)	2						c.(571-588)gac>ga		forkhead box Q1																																				SO:0001651	inframe_deletion	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313512_1313526delCAACTACTGGATGCT	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"Forkhead boxes"	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.573_587delCAACTACTGGATGCT	6.37:g.1313512_1313526delCAACTACTGGATGCT	ENSP00000296839:p.Asn192_Leu196del						p.DNYWML191del	NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	838_852	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	191					Q9NS06	In_Frame_Del	DEL	ENST00000296839.2	37	c.573_587delCAACTACTGGATGCT	CCDS4471.1																																																																																				0.707	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		7	250						7	250	---	---	---	---	-	1313526	CAACTACTGGATGCT	-	1313512	7	5	124	1	0	1	0	1	0	0	0	0	6057	477	17	0	575	0	FOXQ1	6	1313512	In_Frame_Del	DEL	CAACTACTGGATGCT	TCGA-YH-A8SY-01A-11D-A377-08		1313512	169801555	63	38634											
KIAA1949	170954	broad.mit.edu	37	chr6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-													gctcttcactccgttgttgtTgctgctgctgctgctgccgc							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.65	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		10	232						10	232	---	---	---	---	-	30653496	TGC	-	30653494	7	5	124	1	0	1	0	1	0	0	0	0	8293	1812	63	0	1551	0	KIAA1949	6	30653494	In_Frame_Del	DEL	TGC	TCGA-YH-A8SY-01A-11D-A377-08	29339982	30653494	140461573	64	38635											
COL11A2	1302	broad.mit.edu	37	chr6	33143391	33143391	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggggcccagggtctccagtcGgtccagtgcgtccctttggc	15	14	1	0	rs150877886	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:33143391G>A	ENST00000374708.4	-	28	2336	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	COL11A2_ENST00000374714.1_Missense_Mutation_p.P753L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P672L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P719L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P758L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P698L|COL11A2_ENST00000341947.2_Missense_Mutation_p.P779L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P732L|COL11A2_ENST00000477772.1_Intron	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	779	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						GTCTCCAGTCGGTCCAGTGCG	0.647													G|||	11	0.00219649	0.0008	0.0	5008	,	,		19300	0.0		0.001	False		,,,				2504	0.0092				Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				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						c.(2335-2337)cCg>cTg		collagen, type XI, alpha 2		G	LEU/PRO,LEU/PRO,LEU/PRO	2,3018		0,2,1508	108	93	98		2015,2336,2078	3.4	1	6	dbSNP_134	98	10,5408		0,10,2699	yes	missense,missense,missense	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	98,98,98	0,12,4207	AA,AG,GG		0.1846,0.0662,0.1422	probably-damaging,probably-damaging,probably-damaging	672/1630,779/1737,693/1651	33143391	12,8426	1510	2709	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33143391G>A	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.2078C>T	6.37:g.33143391G>A	ENSP00000363840:p.Pro693Leu					COL11A2_ENST00000374713.1_Missense_Mutation_p.P732L|COL11A2_ENST00000395197.1_Missense_Mutation_p.P719L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P693L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P698L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P672L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.P753L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P758L	p.P779L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			30	2563	-			779			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.2336C>T	CCDS43452.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.05	2.418368	0.42918	6.62E-4	0.001846	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	4.3	3.44	0.39384	.	0.067235	0.64402	D	0.000012	D	0.83936	0.5362	L	0.37466	1.105	0.80722	D	1	P;P;P	0.50443	0.87;0.758;0.935	B;B;B	0.43867	0.434;0.307;0.334	T	0.81760	-0.0785	10	0.26408	T	0.33	.	10.4953	0.44775	0.0961:0.0:0.9039:0.0	.	672;693;779	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	L	693;779;758;753;732;719;698;672	ENSP00000363840:P693L;ENSP00000339915:P779L;ENSP00000350079:P758L;ENSP00000363846:P753L;ENSP00000363845:P732L;ENSP00000378623:P719L;ENSP00000363844:P698L;ENSP00000355123:P672L	ENSP00000339915:P779L	P	-	2	0	COL11A2	33251369	0.999000	0.42202	0.992000	0.48379	0.889000	0.51656	3.017000	0.49615	1.201000	0.43203	-0.350000	0.07774	CCG		0.647	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			50	164	0	0	0	1	0	50	164					A	33143391	G	A	33143391	3	1	124	1	0	0	0	0	1	0	0	0	3677	1116	39	1	3022	1	COL11A2	6	33143391	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	2489897	33143391	137971676	65	38636											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411201	33411203	+	In_Frame_Del	DEL	CAC	CAC	-													atggcccaccttcctcccatCaccaccaccaccaccatcac							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:33411201_33411203delCAC	ENST00000418600.2	+	15	2973_2975	c.2872_2874delCAC	c.(2872-2874)cacdel	p.H966del	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	966					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTCCTCccatcaccaccaccacc	0.645																																						ENST00000418600.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						c.(2872-2874)del		synaptic Ras GTPase activating protein 1																																				SO:0001651	inframe_deletion	8831				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	g.chr6:33411201_33411203delCAC	AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2872_2874delCAC	6.37:g.33411210_33411212delCAC	ENSP00000403636:p.His966del					SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del	p.H966del	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN			15	2973_2975	+			966					A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	In_Frame_Del	DEL	ENST00000418600.2	37	c.2872_2874delCAC	CCDS34434.2																																																																																				0.645	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407		7	661						7	661	---	---	---	---	-	33411203	CAC	-	33411201	7	5	124	1	0	1	0	1	0	0	0	0	15499	826	29	0	2930	0	SYNGAP1	6	33411201	In_Frame_Del	DEL	CAC	TCGA-YH-A8SY-01A-11D-A377-08	267810	33411201	137703866	66	38637											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A													caacagcagcagcagcagcaGcaacagcagcagcagcagca							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11	16	14					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	108	0	0	0	1	0	5	108					A	45390463	G	A	45390463	2	1	124	1	0	0	0	0	0	0	0	1	13798	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	11979262	45390463	125724604	67	38638	237	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G													cagcagcagcagcagcagcaAcagcagcagcagcagcagga					rs575896136	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	8	0.00159744	0.0023	0.0	5008	,	,		7675	0.002		0.0	False		,,,				2504	0.0031					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(193-195)caA>caG		runt-related transcription factor 2							10	15	14					6																	45390466		1452	3071	4523	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390466A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.195A>G	6.37:g.45390466A>G						RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q	p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	553	+			65			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.195A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		6	94	0	0	0	1	0	6	94					G	45390466	A	G	45390466	2	3	124	1	0	0	0	0	0	0	0	1	13798	40	2	4		4	RUNX2	6	45390466	Silent	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	3	45390466	125724601	68	38639	237	2									
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	18	12	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6	10	9					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		4	66	0	0	0	1	0	4	66					G	45390482	C	G	45390482	3	3	124	1	0	0	0	0	1	0	0	0	13798	711	25	5	233	5	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	16	45390482	125724585	69	38640											
RNGTT	8732	broad.mit.edu	37	chr6	89638988	89638988	+	Splice_Site	DEL	T	T	-													ccaacaagcccattttaaccTaaaaaaaaaaaaaaatgaaa					rs79488860		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:89638988delT	ENST00000369485.4	-	3	361		c.e3-2		RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase						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)		CATTTTAACCTAAAAAAAAAA	0.299																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.e3-2		RNA guanylyltransferase and 5'-phosphatase							23	25	24					6																	89638988		2165	4252	6417	SO:0001630	splice_region_variant	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89638988delT	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.175-2A>-	6.37:g.89638988delT						RNGTT_ENST00000265607.6_Splice_Site|RNGTT_ENST00000538899.1_Splice_Site|RNGTT_ENST00000369475.3_Splice_Site		NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	3	361	-		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)						E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Splice_Site	DEL	ENST00000369485.4	37		CCDS5017.1																																																																																				0.299	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1		Intron	9	461						9	461	---	---	---	---	-	89638988	T	-	89638988	8	5	124	1	0	1	0	1	0	0	1	0	13553	1536	53	0	1676	0	RNGTT	6	89638988	Splice_Site	DEL	T	TCGA-YH-A8SY-01A-11D-A377-08	44248506	89638988	81476079	70	38641											
NCOA7	135112	broad.mit.edu	37	chr6	126176316	126176317	+	Frame_Shift_Ins	INS	-	-	A													aggaatatatgactgatgagINSaaaaaaaagagaaaaagtaa							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:126176316_126176317insA	ENST00000368357.3	+	4	553_554	c.201_202insA	c.(202-204)aaafs	p.K68fs	NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Frame_Shift_Ins_p.K68fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	68					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)		TGACTGATGAGAAAAAAAAGAG	0.356																																						ENST00000368357.3																			0				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						c.(199-204)gaaaaafs		nuclear receptor coactivator 7																																				SO:0001589	frameshift_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126176316_126176317insA	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.209dupA	6.37:g.126176324_126176324dupA	ENSP00000357341:p.Lys68fs					NCOA7_ENST00000392477.2_Frame_Shift_Ins_p.EK67fs|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR	p.EK67fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	4	553_554	+			67					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Frame_Shift_Ins	INS	ENST00000368357.3	37	c.201_202insA	CCDS5132.1																																																																																				0.356	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		9	764						9	764	---	---	---	---	A	126176317	-	A	126176316	7	5	124	1	0	1	1	0	0	0	0	0	10276	933	33	0	207	0	NCOA7	6	126176316	Frame_Shift_Ins	INS	-	TCGA-YH-A8SY-01A-11D-A377-08	36537328	126176316	44938751	71	38642											
STXBP5	134957	broad.mit.edu	37	chr6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttgccccttaccaatatgCggatagccagaacgttctgc	8	13	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:147685192C>T	ENST00000321680.6	+	25	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	STXBP5_ENST00000367481.3_Missense_Mutation_p.R955W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R955W(1)|p.R991W(1)		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)		TACCAATATGCGGATAGCCAG	0.363																																						ENST00000367481.3																			2	Substitution - Missense(2)	p.R955W(1)|p.R991W(1)	kidney(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2863-2865)Cgg>Tgg		syntaxin binding protein 5 (tomosyn)							189	181	184					6																	147685192		2203	4300	6503	SO:0001583	missense	0				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685192C>T	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.2971C>T	6.37:g.147685192C>T	ENSP00000321826:p.Arg991Trp					STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W	p.R955W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2971	+		Ovarian(120;0.0164)	991					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2863C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218984	0.79464	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.84	2.77	0.32553	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.81682	2.555	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	0.43556	-0.9384	10	0.72032	D	0.01	.	11.1257	0.48317	0.2422:0.6922:0.0:0.0656	.	955;991;646	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	W	955;991;938;646	ENSP00000356451:R955W;ENSP00000321826:R991W;ENSP00000356450:R938W;ENSP00000179882:R646W	ENSP00000179882:R646W	R	+	1	2	STXBP5	147726885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.045000	0.57368	0.793000	0.33875	-0.182000	0.12963	CGG		0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			5	747	0	0	0	1	0	5	747					T	147685192	C	T	147685192	3	4	124	1	0	0	0	0	1	0	0	0	15408	759	27	1	3069	1	STXBP5	6	147685192	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	21508876	147685192	23429875	72	38643											
TCP10L2	401285	broad.mit.edu	37	chr6	167592605	167592605	+	Missense_Mutation	SNP	T	T	G													gcagacggcagcagccggagTtgctggtgagcagggtaggg					rs200932131	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:167592605T>G	ENST00000366832.2	+	6	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(763-765)gTt>gGt		t-complex 10-like 2																																				SO:0001583	missense	401285							g.chr6:167592605T>G		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.764T>G	6.37:g.167592605T>G	ENSP00000355797:p.Val255Gly						p.V255G	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	895	+			255						Missense_Mutation	SNP	ENST00000366832.2	37	c.764T>G	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	N	0.018	-1.471236	0.01044	.	.	ENSG00000166984	ENST00000366832	T	0.21031	2.03	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	7	0.33141	T	0.24	.	.	.	.	.	255	B9ZVM9	TCP2L_HUMAN	G	255	ENSP00000355797:V255G	ENSP00000283507:V255G	V	+	2	0	TCP10L2	167512595	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	-0.587000	0.05780	-1.946000	0.01035	-2.069000	0.00389	GTT		0.582	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		8	73	0	0	0	1	0	8	73					G	167592605	T	G	167592605	3	3	124	1	0	0	0	0	1	0	0	0	15764	1725	60	4	782	4	TCP10L2	6	167592605	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	19907413	167592605	3522462	73	38644	238	2									
TCP10L2	401285	broad.mit.edu	37	chr6	167592606	167592606	+	Silent	SNP	T	T	A													cagacggcagcagccggagtTgctggtgagcagggtagggg					rs201866116	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(763-765)gtT>gtA		t-complex 10-like 2																																				SO:0001819	synonymous_variant	401285							g.chr6:167592606T>A		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"t-complex 10-like 2 (mouse)"				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.765T>A	6.37:g.167592606T>A							p.V255V	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	896	+			255						Silent	SNP	ENST00000366832.2	37	c.765T>A	CCDS47514.1																																																																																				0.577	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		9	72	0	0	0	1	0	9	72					A	167592606	T	A	167592606	2	1	124	1	0	0	0	0	0	0	0	1	15764	1799	63	5		5	TCP10L2	6	167592606	Silent	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	1	167592606	3522461	74	38645	238	2									
COL28A1	340267	broad.mit.edu	37	chr7	7570984	7570984	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccattaggtacctaccagacGatcttgaattttatctacaa	5	10	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:7570984G>A	ENST00000399429.3	-	3	816	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	226	VWFA 1. {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)		CCTACCAGACGATCTTGAATT	0.373																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(676-678)Cgt>Tgt		collagen, type XXVIII, alpha 1							69	61	64					7																	7570984		1841	4088	5929	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7570984G>A	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.676C>T	7.37:g.7570984G>A	ENSP00000382356:p.Arg226Cys						p.R226C	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	3	816	-		Ovarian(82;0.0789)	226			VWFA 1.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.676C>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239447	0.22711	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	T	0.55760	0.5	3.88	3.88	0.44766	von Willebrand factor, type A (2);	0.303428	0.24176	U	0.040860	T	0.43366	0.1244	N	0.08118	0	0.18873	N	0.999983	D	0.64830	0.994	P	0.54965	0.765	T	0.30592	-0.9973	10	0.59425	D	0.04	-0.8455	10.5423	0.45039	0.0:0.0:0.8065:0.1935	.	226	Q2UY09	COSA1_HUMAN	C	226	ENSP00000382356:R226C	ENSP00000382347:R226C	R	-	1	0	COL28A1	7537509	0.326000	0.24669	0.825000	0.32803	0.038000	0.13279	0.862000	0.27899	2.183000	0.69458	0.655000	0.94253	CGT		0.373	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		41	217	0	0	0	1	0	41	217					A	7570984	G	A	7570984	3	1	124	1	0	0	0	0	1	0	0	0	3695	1058	37	1	2833	1	COL28A1	7	7570984	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		7570984	151567679	75	38646											
GARS	2617	broad.mit.edu	37	chr7	30656770	30656770	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attaggctatttcattggccGcatctacctctacctcacga	6	13	4	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:30656770G>A	ENST00000389266.3	+	10	1476	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	412					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)	p.R412H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCATTGGCCGCATCTACCTC	0.433																																						ENST00000389266.3																			1	Substitution - Missense(1)	p.R412H(1)	large_intestine(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1234-1236)cGc>cAc		glycyl-tRNA synthetase	Glycine(DB00145)						179	167	171					7																	30656770		1932	4138	6070	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30656770G>A	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.1235G>A	7.37:g.30656770G>A	ENSP00000373918:p.Arg412His						p.R412H	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			10	1476	+			412					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.1235G>A	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303525	0.95601	.	.	ENSG00000106105	ENST00000389266	T	0.79247	-1.25	5.22	5.22	0.72569	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	0.89525	0.6740	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91138	0.4943	10	0.87932	D	0	-10.2399	16.6573	0.85232	0.0:0.0:1.0:0.0	.	412	P41250	SYG_HUMAN	H	412	ENSP00000373918:R412H	ENSP00000373918:R412H	R	+	2	0	GARS	30623295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.827000	0.99397	2.603000	0.88011	0.557000	0.71058	CGC		0.433	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		6	568	0	0	0	1	0	6	568					A	30656770	G	A	30656770	3	1	124	1	0	0	0	0	1	0	0	0	6270	1087	38	1	1273	1	GARS	7	30656770	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	23085786	30656770	128481893	76	38647											
ADCY1	107	broad.mit.edu	37	chr7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaaggagaaccactgtcgccGcatcaagattctcggggact	12	11	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					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)	CACTGTCGCCGCATCAAGATT	0.587																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1036-1038)cGc>cAc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						103	87	92					7																	45688285		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688285G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1037G>A	7.37:g.45688285G>A	ENSP00000297323:p.Arg346His					ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	p.R346H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			5	1059	+			346					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1037G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673952	0.88445	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.81579	-1.51;-1.51	3.91	3.91	0.45181	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.94103	0.7364	10	0.87932	D	0	.	13.4729	0.61290	0.0:0.0:1.0:0.0	.	346;121	Q08828;C9J1J0	ADCY1_HUMAN;.	H	121;346;346	ENSP00000392721:R121H;ENSP00000297323:R346H	ENSP00000297323:R346H	R	+	2	0	ADCY1	45654810	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	8.906000	0.92626	2.028000	0.59812	0.561000	0.74099	CGC		0.587	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		5	173	0	0	0	1	0	5	173					A	45688285	G	A	45688285	3	1	124	1	0	0	0	0	1	0	0	0	292	1087	38	1	1055	1	ADCY1	7	45688285	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	15031515	45688285	113450378	77	38648											
SEMA3E	9723	broad.mit.edu	37	chr7	83029563	83029563	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatttactttgctggCacactgaaaaacaagtggat	7	11	0	1	rs373711827		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:83029563C>T	ENST00000307792.3	-	11	1614	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A323T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	383	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACTTTGCTGGCACACTGAAAA	0.373																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1147-1149)Gcc>Acc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E							132	123	126					7																	83029563		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029563C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1147G>A	7.37:g.83029563C>T	ENSP00000303212:p.Ala383Thr					SEMA3E_ENST00000427262.1_Missense_Mutation_p.A323T	p.A383T	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			11	1614	-		Medulloblastoma(109;0.109)	383			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1147G>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038932	0.75617	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.22945	1.93;1.93	5.52	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.58354	1.805	0.58432	D	0.999999	P	0.50617	0.937	P	0.56865	0.808	T	0.32693	-0.9897	10	0.49607	T	0.09	.	16.1726	0.81828	0.0:0.8664:0.1336:0.0	.	383	O15041	SEM3E_HUMAN	T	383;323;383	ENSP00000303212:A383T;ENSP00000405052:A323T	ENSP00000303212:A383T	A	-	1	0	SEMA3E	82867499	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.836000	0.48183	1.282000	0.44496	0.585000	0.79938	GCC		0.373	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		54	299	0	0	0	1	0	54	299					T	83029563	C	T	83029563	3	4	124	1	0	0	0	0	1	0	0	0	14078	710	25	2	1208	2	SEMA3E	7	83029563	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	37341278	83029563	76109100	78	38649											
STAG3	10734	broad.mit.edu	37	chr7	99780445	99780445	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaatgctgtgaaagccGccaaaagtgacatgcaggta	10	8	1	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:99780445G>A	ENST00000426455.1	+	4	726	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	STAG3_ENST00000317296.5_Missense_Mutation_p.A107T|STAG3_ENST00000394018.2_Missense_Mutation_p.A107T	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	107					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAAGCCGCCAAAAGTGA	0.463																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(319-321)Gcc>Acc		stromal antigen 3							242	238	239					7																	99780445		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99780445G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.319G>A	7.37:g.99780445G>A	ENSP00000400359:p.Ala107Thr					STAG3_ENST00000394018.2_Missense_Mutation_p.A107T|STAG3_ENST00000317296.5_Missense_Mutation_p.A107T	p.A107T			Q9UJ98	STAG3_HUMAN			4	726	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		107					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.319G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112214	0.77210	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.28069	1.93;1.63;1.93	5.32	5.32	0.75619	.	0.000000	0.43919	D	0.000512	T	0.52869	0.1761	M	0.68952	2.095	0.42720	D	0.993672	D;B	0.89917	1.0;0.32	D;B	0.64506	0.926;0.056	T	0.54860	-0.8230	10	0.87932	D	0	-15.4632	16.5495	0.84470	0.0:0.0:1.0:0.0	.	107;107	B4DZ10;Q9UJ98	.;STAG3_HUMAN	T	107	ENSP00000400359:A107T;ENSP00000377586:A107T;ENSP00000319318:A107T	ENSP00000319318:A107T	A	+	1	0	STAG3	99618381	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.209000	0.72171	2.773000	0.95371	0.585000	0.79938	GCC		0.463	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		7	1370	0	0	0	1	0	7	1370					A	99780445	G	A	99780445	3	1	124	1	0	0	0	0	1	0	0	0	15296	1087	38	1	329	1	STAG3	7	99780445	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	16750882	99780445	59358218	79	38650											
ACHE	43	broad.mit.edu	37	chr7	100491685	100491685	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcagagacagggccccCgggggtcttcaggcgaatgc	16	11	2	1	rs17234982	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:100491685C>T	ENST00000412389.1	-	1	324	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	ACHE_ENST00000419336.2_Missense_Mutation_p.G57R|ACHE_ENST00000241069.5_Missense_Mutation_p.G57R|ACHE_ENST00000411582.1_Missense_Mutation_p.G57R|ACHE_ENST00000428317.1_Missense_Mutation_p.G57R|ACHE_ENST00000302913.4_Missense_Mutation_p.G57R|ACHE_ENST00000497647.1_5'Flank			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	57					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)	ACAGGGCCCCCGGGGGTCTTC	0.701													C|||	14	0.00279553	0.0	0.0	5008	,	,		14079	0.001		0.0	False		,,,				2504	0.0133					ENST00000302913.4																			0				large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16						c.(169-171)Ggg>Agg		acetylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	C	ARG/GLY,ARG/GLY	0,4402		0,0,2201	19	24	22		169,169	4	0	7	dbSNP_123	22	2,8586		0,2,4292	yes	missense,missense	ACHE	NM_000665.3,NM_015831.2	125,125	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	57/615,57/618	100491685	2,12988	2201	4294	6495	SO:0001583	missense	43				acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity	g.chr7:100491685C>T		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.169G>A	7.37:g.100491685C>T	ENSP00000394976:p.Gly57Arg					ACHE_ENST00000411582.1_Missense_Mutation_p.G57R|ACHE_ENST00000241069.5_Missense_Mutation_p.G57R|ACHE_ENST00000428317.1_Missense_Mutation_p.G57R|ACHE_ENST00000412389.1_Missense_Mutation_p.G57R|ACHE_ENST00000419336.2_Missense_Mutation_p.G57R	p.G57R	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN			2	307	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		57					A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	ENST00000412389.1	37	c.169G>A	CCDS5709.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	c	9.302	1.053449	0.19907	0.0	2.33E-4	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;T	0.67865	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8;-0.29	4.85	3.97	0.46021	Carboxylesterase, type B (1);	0.245457	0.40222	N	0.001147	T	0.57902	0.2085	M	0.63169	1.94	0.34490	D	0.704821	B;B;B;B	0.28552	0.02;0.215;0.028;0.002	B;B;B;B	0.17433	0.004;0.018;0.004;0.003	T	0.66400	-0.5933	10	0.66056	D	0.02	.	6.5296	0.22320	0.1779:0.7276:0.0:0.0944	rs17234982	57;57;57;57	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	R	57	ENSP00000403474:G57R;ENSP00000241069:G57R;ENSP00000414858:G57R;ENSP00000303211:G57R;ENSP00000394976:G57R;ENSP00000397143:G57R;ENSP00000399725:G57R;ENSP00000404865:G57R;ENSP00000396360:G57R	ENSP00000241069:G57R	G	-	1	0	ACHE	100329621	0.005000	0.15991	0.042000	0.18584	0.166000	0.22503	0.103000	0.15292	1.162000	0.42619	0.556000	0.70494	GGG		0.701	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347201.1	NM_015831		19	79	0	0	0	1	0	19	79					T	100491685	C	T	100491685	3	4	124	1	0	0	0	0	1	0	0	0	141	652	23	1	1826	1	ACHE	7	100491685	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	711240	100491685	58646978	80	38651											
C7orf58	79974	broad.mit.edu	37	chr7	120739977	120739978	+	Splice_Site	DEL	TA	TA	-													actatgttttttttttttttTaggaatgaaacgacagtcct					rs142662878|rs183590846	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:120739977_120739978delTA	ENST00000310396.5	+	7	1216		c.e7-1		CPED1_ENST00000450913.2_Splice_Site|CPED1_ENST00000423795.1_Splice_Site	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)											TTTTTTTTTTTAGGAATGAAAC	0.376																																						ENST00000310396.5																			0											c.e7-1		cadherin-like and PC-esterase domain containing 1																																				SO:0001630	splice_region_variant	79974							g.chr7:120739977_120739978delTA		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.750-1TA>-	7.37:g.120739977_120739978delTA						CPED1_ENST00000450913.2_Splice_Site|CPED1_ENST00000423795.1_Splice_Site		NM_024913.4	NP_079189.4					7	1216	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Splice_Site	DEL	ENST00000310396.5	37		CCDS34739.1																																																																																				0.376	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	Intron	7	392						7	392	---	---	---	---	-	120739978	TA	-	120739977	8	5	124	1	0	1	0	1	0	0	1	0	2412	1769	61	0		0	C7orf58	7	120739977	Splice_Site	DEL	TA	TCGA-YH-A8SY-01A-11D-A377-08	20248292	120739977	38398686	81	38652											
WEE2	494551	broad.mit.edu	37	chr7	141418884	141418884	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tactttagagatgtgttttaCgagaaaccaacatggcttcc	8	8	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:141418884C>T	ENST00000397541.2	+	4	1004	c.598C>T	c.(598-600)Cga>Tga	p.R200*	WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	200					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATGTGTTTTACGAGAAACCAA	0.343																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(598-600)Cga>Tga		WEE1 homolog 2 (S. pombe)							90	88	88					7																	141418884		1797	4063	5860	SO:0001587	stop_gained	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141418884C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.598C>T	7.37:g.141418884C>T	ENSP00000380675:p.Arg200*					WEE2-AS1_ENST00000488785.1_RNA	p.R200*	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			4	1004	+	Melanoma(164;0.0171)		200						Nonsense_Mutation	SNP	ENST00000397541.2	37	c.598C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	40	8.074404	0.98640	.	.	ENSG00000214102	ENST00000397541	.	.	.	5.52	4.53E-4	0.14042	.	0.719074	0.11076	U	0.602382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8902	0.58068	0.3292:0.5127:0.1582:0.0	.	.	.	.	X	200	.	ENSP00000380675:R200X	R	+	1	2	WEE2	141065353	0.837000	0.29446	0.491000	0.27477	0.937000	0.57800	0.581000	0.23819	0.007000	0.14760	-1.367000	0.01198	CGA		0.343	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		116	528	0	0	0	1	0	116	528					T	141418884	C	T	141418884	4	4	124	1	0	0	0	0	0	1	0	0	17399	528	19	1	612	1	WEE2	7	141418884	Nonsense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	20678907	141418884	17719779	82	38653											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-													ccaggacagccgtttctgccCacacacacacagcccaacct							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.53	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		7	261						7	261	---	---	---	---	-	155531074	CA	-	155531073	7	5	124	1	0	1	0	1	0	0	0	0	13180	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-YH-A8SY-01A-11D-A377-08	14112189	155531073	3607590	83	38654											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	410						9	410	---	---	---	---	-	30945379	AAG	-	30945377	7	5	124	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-YH-A8SY-01A-11D-A377-08		30945377	115418645	84	38655											
FGFR1	2260	broad.mit.edu	37	chr8	38279439	38279439	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcacctccatctctttgtcGgtggtattaactccagcagt	8	12	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:38279439G>A	ENST00000447712.2	-	8	1898	c.957C>T	c.(955-957)acC>acT	p.T319T	FGFR1_ENST00000397113.2_Silent_p.T317T|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Silent_p.T319T|FGFR1_ENST00000425967.3_Silent_p.T350T|FGFR1_ENST00000326324.6_Silent_p.T228T|FGFR1_ENST00000335922.5_Silent_p.T311T|FGFR1_ENST00000397108.4_Silent_p.T317T|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397091.5_Silent_p.T317T|FGFR1_ENST00000356207.5_Silent_p.T230T|FGFR1_ENST00000341462.5_Intron	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	319	Ig-like C2-type 3.				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)	TCTCTTTGTCGGTGGTATTAA	0.498		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"Pfeiffer syndrome, Kallman syndrome"	L	"BCR, FOP, ZNF198, CEP1"		"MPD, NHL"	FGFR1/ZNF703(2)	0				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						c.(955-957)acC>acT		fibroblast growth factor receptor 1	Palifermin(DB00039)						68	70	69					8																	38279439		2085	4259	6344	SO:0001819	synonymous_variant	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38279439G>A	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.957C>T	8.37:g.38279439G>A						FGFR1_ENST00000326324.6_Silent_p.T228T|FGFR1_ENST00000532791.1_Silent_p.T319T|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000425967.3_Silent_p.T350T|FGFR1_ENST00000397091.5_Silent_p.T317T|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000397108.4_Silent_p.T317T|FGFR1_ENST00000397113.2_Silent_p.T317T|FGFR1_ENST00000356207.5_Silent_p.T230T|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000335922.5_Silent_p.T311T	p.T319T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	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)		8	1898	-	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)	319			Ig-like C2-type 3.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	ENST00000447712.2	37	c.957C>T	CCDS6107.2																																																																																				0.498	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				11	174	0	0	0	1	0	11	174					A	38279439	G	A	38279439	2	1	124	1	0	0	0	0	0	0	0	1	5888	1103	39	1		1	FGFR1	8	38279439	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	7334062	38279439	108084583	85	38656											
C8orf45	157777	broad.mit.edu	37	chr8	67809157	67809157	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagggctgttttatgCggcttctagacagttcacaa	10	9	2	2	rs142662778		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:67809157C>T	ENST00000422365.2	+	12	1760	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	530					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.A525V(1)|p.A530V(1)		endometrium(2)|kidney(2)|lung(5)	9						CTGTTTTATGCGGCTTCTAGA	0.398																																						ENST00000422365.2																			2	Substitution - Missense(2)	p.A525V(1)|p.A530V(1)	prostate(2)	endometrium(2)|kidney(2)|lung(5)	9						c.(1588-1590)gCg>gTg		minichromosome maintenance domain containing 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	106	106	106		1589,1589,1589	1.5	0.5	8	dbSNP_134	106	14,8586	10.5+/-38.8	0,14,4286	no	missense,missense,missense	C8orf45	NM_001136160.1,NM_001136161.1,NM_173518.4	64,64,64	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	benign,benign,benign	530/633,530/591,530/682	67809157	14,12992	2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67809157C>T	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.1589C>T	8.37:g.67809157C>T	ENSP00000413632:p.Ala530Val					MCMDC2_ENST00000396592.3_Missense_Mutation_p.A530V|MCMDC2_ENST00000541540.1_Missense_Mutation_p.A467V|MCMDC2_ENST00000313616.5_Missense_Mutation_p.A530V	p.A530V	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN			12	1760	+			530					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1589C>T	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	C	4.025	0.002125	0.07819	0.0	0.001628	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.51	1.54	0.23209	.	1.248780	0.05550	N	0.567349	T	0.13670	0.0331	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	0.28427	-1.0044	10	0.27082	T	0.32	-0.3643	0.4206	0.00455	0.2537:0.2452:0.1256:0.3755	.	467;530;530	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	V	530;530;530;467	ENSP00000379837:A530V;ENSP00000413632:A530V;ENSP00000317234:A530V;ENSP00000445629:A467V	ENSP00000317234:A530V	A	+	2	0	C8orf45	67971711	0.022000	0.18835	0.474000	0.27266	0.010000	0.07245	0.785000	0.26830	1.029000	0.39812	-0.300000	0.09419	GCG		0.398	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		6	640	0	0	0	1	0	6	640					T	67809157	C	T	67809157	3	4	124	1	0	0	0	0	1	0	0	0	2437	768	27	1	1631	1	C8orf45	8	67809157	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	29529718	67809157	78554865	86	38657											
ZFHX4	79776	broad.mit.edu	37	chr8	77617904	77617904	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ggtacctcgtcctcctcggcGactgtttctgatgacacaga	10	13	1	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:77617904G>A	ENST00000521891.2	+	2	2029	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000518282.1_Silent_p.A527A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	527					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)			CCTCCTCGGCGACTGTTTCTG	0.433										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1579-1581)gcG>gcA		zinc finger homeobox 4							40	40	40					8																	77617904		1963	4156	6119	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617904G>A		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.1581G>A	8.37:g.77617904G>A		HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron	p.A527A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2029	+			527					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1581G>A	CCDS47878.2																																																																																				0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		27	224	0	0	0	1	0	27	224					A	77617904	G	A	77617904	2	1	124	1	0	0	0	0	0	0	0	1	17688	1045	37	1		1	ZFHX4	8	77617904	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	9808747	77617904	68746118	87	38658											
PLEC	5339	broad.mit.edu	37	chr8	144994097	144994097	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ggacagcctctcctgccgcaGggtctccacctcctccacga	9	19	2	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr8:144994097G>T	ENST00000322810.4	-	32	10472	c.10303C>A	c.(10303-10305)Ctg>Atg	p.L3435M	PLEC_ENST00000345136.3_Missense_Mutation_p.L3298M|PLEC_ENST00000354958.2_Missense_Mutation_p.L3276M|PLEC_ENST00000398774.2_Missense_Mutation_p.L3266M|PLEC_ENST00000527096.1_Missense_Mutation_p.L3321M|PLEC_ENST00000436759.2_Missense_Mutation_p.L3325M|PLEC_ENST00000357649.2_Missense_Mutation_p.L3302M|PLEC_ENST00000354589.3_Missense_Mutation_p.L3298M|PLEC_ENST00000356346.3_Missense_Mutation_p.L3284M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3435	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						TCCTGCCGCAGGGTCTCCACC	0.637																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10303-10305)Ctg>Atg		plectin							58	67	64					8																	144994097		2162	4256	6418	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994097G>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10303C>A	8.37:g.144994097G>T	ENSP00000323856:p.Leu3435Met					PLEC_ENST00000345136.3_Missense_Mutation_p.L3298M|PLEC_ENST00000354589.3_Missense_Mutation_p.L3298M|PLEC_ENST00000436759.2_Missense_Mutation_p.L3325M|PLEC_ENST00000354958.2_Missense_Mutation_p.L3276M|PLEC_ENST00000357649.2_Missense_Mutation_p.L3302M|PLEC_ENST00000527096.1_Missense_Mutation_p.L3321M|PLEC_ENST00000356346.3_Missense_Mutation_p.L3284M|PLEC_ENST00000398774.2_Missense_Mutation_p.L3266M	p.L3435M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10472	-			3435			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10303C>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809766	0.16537	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76968	-1.02;-1.02;-1.06;-1.05;-1.04;-1.02;-1.02;-1.02;-1.02	4.81	-4.87	0.03123	.	1.138360	0.06912	U	0.807848	T	0.57636	0.2067	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.23591	0.088;0.088;0.088;0.053;0.088;0.088;0.088;0.088	B;B;B;B;B;B;B;B	0.29598	0.086;0.104;0.104;0.039;0.104;0.086;0.086;0.086	T	0.52200	-0.8607	10	0.52906	T	0.07	.	8.9149	0.35576	0.0:0.121:0.2943:0.5847	.	3325;3284;3276;3435;3266;3298;3302;3298	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	3298;3302;3298;3266;3435;3276;3284;3325;3321	ENSP00000344848:L3298M;ENSP00000350277:L3302M;ENSP00000346602:L3298M;ENSP00000381756:L3266M;ENSP00000323856:L3435M;ENSP00000347044:L3276M;ENSP00000348702:L3284M;ENSP00000388180:L3325M;ENSP00000434583:L3321M	ENSP00000323856:L3435M	L	-	1	2	PLEC	145066085	0.000000	0.05858	0.000000	0.03702	0.944000	0.59088	0.834000	0.27518	-0.457000	0.07033	0.448000	0.29417	CTG		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		77	317	1	0	6.09464e-36	1	6.58963e-36	77	317					T	144994097	G	T	144994097	3	4	124	1	0	0	0	0	1	0	0	0	12094	991	35	3	3755	3	PLEC	8	144994097	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	67376193	144994097	1369925	88	38659											
FOXD4	2298	broad.mit.edu	37	chr9	117757	117757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgtgaggcgcttgtgCgggctttgcaggatggccat	17	9	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:117757C>T	ENST00000382500.2	-	1	660	c.363G>A	c.(361-363)ccG>ccA	p.P121P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	121					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)		GGCGCTTGTGCGGGCTTTGCA	0.652																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(361-363)ccG>ccA		forkhead box D4							70	102	92					9																	117757		2179	4281	6460	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117757C>T	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.363G>A	9.37:g.117757C>T							p.P121P	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	660	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	121					B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.363G>A	CCDS34975.1																																																																																				0.652	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		8	893	0	0	0	1	0	8	893					T	117757	C	T	117757	2	4	124	1	0	0	0	0	0	0	0	1	6024	755	27	1		1	FOXD4	9	117757	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		117757	141095674	89	38660											
IFNA7	3444	broad.mit.edu	37	chr9	21202008	21202008	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaattcatgtctgtccttcaAgcaggagaaaggagagattc	11	7	3	2	rs559535260	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:21202008A>G	ENST00000239347.3	-	1	196	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	53					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)		CTGTCCTTCAAGCAGGAGAAA	0.517													A|||	2	0.000399361	0.0008	0.0	5008	,	,		19249	0.0		0.0	False		,,,				2504	0.001					ENST00000239347.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12						c.(157-159)Ttg>Ctg		interferon, alpha 7							132	130	131					9																	21202008		2203	4300	6503	SO:0001819	synonymous_variant	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21202008A>G		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.157T>C	9.37:g.21202008A>G							p.L53L	NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	196	-			53					Q14607|Q5VV14	Silent	SNP	ENST00000239347.3	37	c.157T>C	CCDS34995.1																																																																																				0.517	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		6	560	0	0	0	1	0	6	560					G	21202008	A	G	21202008	2	3	124	1	0	0	0	0	0	0	0	1	7572	69	3	4		4	IFNA7	9	21202008	Silent	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	21084251	21202008	120011423	90	38661											
CD72	971	broad.mit.edu	37	chr9	35616044	35616044	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactttgcaaggtctccttcGtcttctgtctgtctgcctgg	9	13	5	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:35616044G>A	ENST00000396757.1	-	6	748	c.584C>T	c.(583-585)aCg>aTg	p.T195M	CD72_ENST00000259633.4_Missense_Mutation_p.T195M|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	195					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTCCTTCGTCTTCTGTCT	0.577																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(583-585)aCg>aTg		CD72 molecule							212	182	192					9																	35616044		2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35616044G>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"CD molecules"	1696	protein-coding gene	gene with protein product		107272	"CD72 antigen"			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.584C>T	9.37:g.35616044G>A	ENSP00000379980:p.Thr195Met					CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.T195M	p.T195M			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	748	-			195						Missense_Mutation	SNP	ENST00000396757.1	37	c.584C>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709706	0.48517	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.61627	0.09;0.09	5.14	2.28	0.28536	.	0.467428	0.19886	N	0.103850	T	0.68357	0.2992	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.56511	-0.7967	10	0.59425	D	0.04	-5.2731	6.2975	0.21095	0.3715:0.0:0.6285:0.0	.	195;195	Q5TLG3;P21854	.;CD72_HUMAN	M	195	ENSP00000379980:T195M;ENSP00000259633:T195M	ENSP00000259633:T195M	T	-	2	0	CD72	35606044	0.001000	0.12720	0.056000	0.19401	0.029000	0.11900	0.385000	0.20685	0.569000	0.29329	0.491000	0.48974	ACG		0.577	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		5	486	0	0	0	1	0	5	486					A	35616044	G	A	35616044	3	1	124	1	0	0	0	0	1	0	0	0	3043	1145	40	1	511	1	CD72	9	35616044	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	14414036	35616044	105597387	91	38662											
COL15A1	1306	broad.mit.edu	37	chr9	101797335	101797335	+	Frame_Shift_Del	DEL	A	A	-													gcttacctggacccccggggAaaaagggacaagctggccct							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:101797335delA	ENST00000375001.3	+	18	2542	c.2119delA	c.(2119-2121)aaafs	p.K708fs		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	708	Collagen-like 2.|Triple-helical region 2 (COL2).				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)				ACCCCCGGGGAAAAAGGGACA	0.612																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2119-2121)aafs		collagen, type XV, alpha 1							47	47	47					9																	101797335		2202	4299	6501	SO:0001589	frameshift_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797335delA	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.2119delA	9.37:g.101797335delA	ENSP00000364140:p.Lys708fs						p.K708fs	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			18	2542	+		Acute lymphoblastic leukemia(62;0.0562)	708			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Frame_Shift_Del	DEL	ENST00000375001.3	37	c.2119delA	CCDS35081.1																																																																																				0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		8	438						8	438	---	---	---	---	-	101797335	A	-	101797335	7	5	124	1	0	1	0	1	0	0	0	0	3681	247	9	0	2189	0	COL15A1	9	101797335	Frame_Shift_Del	DEL	A	TCGA-YH-A8SY-01A-11D-A377-08	66181291	101797335	39416096	92	38663											
PHF19	26147	broad.mit.edu	37	chr9	123636876	123636876	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tacaggccatctgtccaccgGcacagcacatactggccctc	8	17	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr9:123636876G>A	ENST00000373896.3	-	2	396	c.144C>T	c.(142-144)tgC>tgT	p.C48C	PHF19_ENST00000312189.6_Silent_p.C48C	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	48	Tudor.				chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTCCACCGGCACAGCACAT	0.557																																						ENST00000373896.3																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(142-144)tgC>tgT		PHD finger protein 19							108	100	103					9																	123636876		2203	4300	6503	SO:0001819	synonymous_variant	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123636876G>A	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.144C>T	9.37:g.123636876G>A						PHF19_ENST00000312189.6_Silent_p.C48C	p.C48C	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN			2	396	-			48					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	ENST00000373896.3	37	c.144C>T	CCDS35116.1																																																																																				0.557	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		5	361	0	0	0	1	0	5	361					A	123636876	G	A	123636876	2	1	124	1	0	0	0	0	0	0	0	1	11871	1195	42	2		2	PHF19	9	123636876	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	21839541	123636876	17576555	93	38664											
ITIH2	3698	broad.mit.edu	37	chr10	7773950	7773950	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaatagagagcgttatcacGgcgacttcggtacttccact	9	11	1	1	rs150260189		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:7773950G>A	ENST00000358415.4	+	13	1804	c.1638G>A	c.(1636-1638)acG>acA	p.T546T	ITIH2_ENST00000379587.4_Silent_p.T535T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	546					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						GCGTTATCACGGCGACTTCGG	0.438																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1636-1638)acG>acA		inter-alpha-trypsin inhibitor heavy chain 2							127	119	122					10																	7773950		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7773950G>A	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1638G>A	10.37:g.7773950G>A						ITIH2_ENST00000379587.4_Silent_p.T535T	p.T546T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			13	1804	+			546					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.1638G>A	CCDS31141.1																																																																																				0.438	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		5	410	0	0	0	1	0	5	410					A	7773950	G	A	7773950	2	1	124	1	0	0	0	0	0	0	0	1	7934	1103	39	1		1	ITIH2	10	7773950	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		7773950	127760797	94	38665											
OGDHL	55753	broad.mit.edu	37	chr10	50966564	50966564	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcgccagccaaacacCgggacgtcatgtgcagccag	12	15	1	0	rs149391137		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:50966564C>T	ENST00000374103.4	-	2	160	c.75G>A	c.(73-75)ccG>ccA	p.P25P	OGDHL_ENST00000419399.1_Silent_p.P25P|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	25					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						AGCCAAACACCGGGACGTCAT	0.627																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(73-75)ccG>ccA		oxoglutarate dehydrogenase-like							48	48	48					10																	50966564		2203	4300	6503	SO:0001819	synonymous_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50966564C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.75G>A	10.37:g.50966564C>T						OGDHL_ENST00000419399.1_Silent_p.P25P|OGDHL_ENST00000432695.1_Intron	p.P25P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			2	160	-			25					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	37	c.75G>A	CCDS7234.1																																																																																				0.627	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		43	195	0	0	0	1	0	43	195					T	50966564	C	T	50966564	2	4	124	1	0	0	0	0	0	0	0	1	10882	639	23	1		1	OGDHL	10	50966564	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	43192614	50966564	84568183	95	38666											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	584						8	584	---	---	---	---	-	81070789	CTC	-	81070787	7	5	124	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-YH-A8SY-01A-11D-A377-08	30104223	81070787	54463960	96	38667											
VWA2	340706	broad.mit.edu	37	chr10	116046089	116046089	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggatgaggttgcgggCccagcgcgtcacgcaagggc	17	12	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr10:116046089C>T	ENST00000392982.3	+	11	1639	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	VWA2_ENST00000603594.1_Silent_p.G463G			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	463	VWFA 2. {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)		AGGTTGCGGGCCCAGCGCGTC	0.657																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1387-1389)ggC>ggT		von Willebrand factor A domain containing 2							72	63	66					10																	116046089		2203	4299	6502	SO:0001819	synonymous_variant	340706					extracellular region		g.chr10:116046089C>T	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1389C>T	10.37:g.116046089C>T						VWA2_ENST00000392982.3_Silent_p.G463G	p.G463G	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1710	+			463			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	ENST00000392982.3	37	c.1389C>T																																																																																					0.657	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		39	255	0	0	0	1	0	39	255					T	116046089	C	T	116046089	2	4	124	1	0	0	0	0	0	0	0	1	17293	726	26	2		2	VWA2	10	116046089	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	34975302	116046089	19488658	97	38668											
AP2A2	161	broad.mit.edu	37	chr11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-													aggctcttgatggctatagtAaaaaaaagtacgtctgcaag							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132	134	134					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		8	610						8	610	---	---	---	---	-	970195	A	-	970195	7	5	124	1	0	1	0	1	0	0	0	0	740	363	13	0	173	0	AP2A2	11	970195	Frame_Shift_Del	DEL	A	TCGA-YH-A8SY-01A-11D-A377-08		970195	134036321	98	38669											
MUC5B	727897	broad.mit.edu	37	chr11	1272055	1272055	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccggggaccacccacaccGccagagtgctgaccaccacc	9	20	0	2	rs373476136		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:1272055G>A	ENST00000529681.1	+	31	14003	c.13945G>A	c.(13945-13947)Gcc>Acc	p.A4649T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A4652T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4649	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)		p.A4649T(1)|p.A4604T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		cacccacaccgccagagtgct	0.612																																						ENST00000447027.1																			2	Substitution - Missense(2)	p.A4649T(1)|p.A4604T(1)	endometrium(2)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13954-13956)Gcc>Acc		mucin 5B, oligomeric mucus/gel-forming		C	THR/ALA	1,4241		0,1,2120	123	151	141		13945	-0.8	0	11		141	0,8448		0,0,4224	no	missense	MUC5B	NM_002458.2	58	0,1,6344	AA,AG,GG		0.0,0.0236,0.0079		4649/5763	1272055	1,12689	2121	4224	6345	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272055G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13945G>A	11.37:g.1272055G>A	ENSP00000436812:p.Ala4649Thr					MUC5B_ENST00000529681.1_Missense_Mutation_p.A4649T	p.A4652T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	14012	+		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)	4649			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13954G>A	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	3.668|3.668	-0.068133|-0.068133	0.07228|0.07228	2.36E-4|2.36E-4	0.0|0.0	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637|ENST00000535652	T;T|.	0.15834|.	2.39;2.57|.	0.976|0.976	-0.754|-0.754	0.11065|0.11065	.|.	.|.	.|.	.|.	.|.	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B|.	0.25235|.	0.121|.	B|.	0.12156|.	0.007|.	T|T	0.18366|0.18366	-1.0339|-1.0339	9|6	0.87932|0.45353	D|T	0|0.12	.|.	4.0397|4.0397	0.09745|0.09745	0.0:0.3403:0.4612:0.1985|0.0:0.3403:0.4612:0.1985	.|.	4652|.	E9PBJ0|.	.|.	T|H	4649;4652;4593|423	ENSP00000436812:A4649T;ENSP00000415793:A4652T|.	ENSP00000343037:A4593T|ENSP00000439776:R423H	A|R	+|+	1|2	0|0	MUC5B|MUC5B	1228631|1228631	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	-5.897000|-5.897000	0.00092|0.00092	-1.423000|-1.423000	0.02002|0.02002	-1.123000|-1.123000	0.02005|0.02005	GCC|CGC		0.612	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		17	121	0	0	0	1	0	17	121					A	1272055	G	A	1272055	3	1	124	1	0	0	0	0	1	0	0	0	10020	1087	38	1	14076	1	MUC5B	11	1272055	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	301860	1272055	133734461	99	38670											
OR51E1	143503	broad.mit.edu	37	chr11	4674426	4674426	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tctccttctcatatctgcttAttcttaagactgtgttgggc	7	10	4	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:4674426A>T	ENST00000396952.5	+	2	1320	c.670A>T	c.(670-672)Att>Ttt	p.I224F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATATCTGCTTATTCTTAAGAC	0.483																																						ENST00000396952.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(670-672)Att>Ttt		olfactory receptor, family 51, subfamily E, member 1							199	184	189					11																	4674426		2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674426A>T	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.670A>T	11.37:g.4674426A>T	ENSP00000380155:p.Ile224Phe					OR51E1_ENST00000530215.1_Intron	p.I224F	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1320	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	223					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.670A>T	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309349	0.81247	.	.	ENSG00000180785	ENST00000396952	T	0.57436	0.4	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.81870	0.4914	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88235	0.2906	10	0.87932	D	0	.	13.3903	0.60821	1.0:0.0:0.0:0.0	.	223	Q8TCB6	O51E1_HUMAN	F	224	ENSP00000380155:I224F	ENSP00000380155:I224F	I	+	1	0	OR51E1	4631002	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.711000	0.91396	2.105000	0.64084	0.533000	0.62120	ATT		0.483	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		30	299	0	0	0	1	0	30	299					T	4674426	A	T	4674426	3	4	124	1	0	0	0	0	1	0	0	0	11136	449	16	5	672	5	OR51E1	11	4674426	Missense_Mutation	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	3402371	4674426	130332090	100	38671											
KCNC1	3746	broad.mit.edu	37	chr11	17758047	17758047	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tccccggatggccggcctggCggcttttggcgccgctggca	16	15	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:17758047C>T	ENST00000379472.3	+	1	528	c.498C>T	c.(496-498)ggC>ggT	p.G166G	KCNC1_ENST00000265969.6_Silent_p.G166G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	166					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCCGGCCTGGCGGCTTTTGGC	0.687																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(496-498)ggC>ggT		potassium voltage-gated channel, Shaw-related subfamily, member 1																																				SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17758047C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.498C>T	11.37:g.17758047C>T						KCNC1_ENST00000265969.6_Silent_p.G166G	p.G166G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			1	528	+			166					K4DI87	Silent	SNP	ENST00000379472.3	37	c.498C>T	CCDS7827.1																																																																																				0.687	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		21	71	0	0	0	1	0	21	71					T	17758047	C	T	17758047	2	4	124	1	0	0	0	0	0	0	0	1	8044	755	27	1		1	KCNC1	11	17758047	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	13083621	17758047	117248469	101	38672											
HIPK3	10114	broad.mit.edu	37	chr11	33373714	33373714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccagccattaataaaaggacGatctgcccctggaagattaa	8	10	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:33373714G>A	ENST00000303296.4	+	16	3379	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|AL122015.1_ENST00000411202.1_RNA	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1025					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3073-3075)cGa>cAa		homeodomain interacting protein kinase 3							129	131	130					11																	33373714		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373714G>A	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3074G>A	11.37:g.33373714G>A	ENSP00000304226:p.Arg1025Gln					HIPK3_ENST00000525975.1_Missense_Mutation_p.R1004Q|HIPK3_ENST00000379016.3_Missense_Mutation_p.R1004Q|HIPK3_ENST00000456517.1_Missense_Mutation_p.R1004Q	p.R1025Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN			16	3379	+			1025					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3074G>A	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880365	0.33162	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.62	4.7	0.59300	.	0.145914	0.31872	N	0.006928	T	0.28267	0.0698	N	0.14661	0.345	0.49483	D	0.999795	B;B	0.14805	0.011;0.006	B;B	0.16289	0.015;0.006	T	0.08493	-1.0719	10	0.07325	T	0.83	.	13.6209	0.62136	0.0754:0.0:0.9246:0.0	.	1004;1025	Q9H422-2;Q9H422	.;HIPK3_HUMAN	Q	1004;1025;1004;1004	ENSP00000431710:R1004Q;ENSP00000304226:R1025Q;ENSP00000368301:R1004Q;ENSP00000398241:R1004Q	ENSP00000304226:R1025Q	R	+	2	0	HIPK3	33330290	1.000000	0.71417	0.617000	0.29091	0.818000	0.46254	4.652000	0.61454	1.359000	0.45940	0.655000	0.94253	CGA		0.378	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		9	737	0	0	0	1	0	9	737					A	33373714	G	A	33373714	3	1	124	1	0	0	0	0	1	0	0	0	7148	1058	37	1	3132	1	HIPK3	11	33373714	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	15615667	33373714	101632802	102	38673											
PRDM11	56981	broad.mit.edu	37	chr11	45246124	45246125	+	Frame_Shift_Ins	INS	-	-	C													gggggagggggactggaaggINStcccccagggggtctccaag							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:45246124_45246125insC	ENST00000530656.1	+	7	1201_1202	c.1201_1202insC	c.(1201-1203)gtcfs	p.V401fs	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Frame_Shift_Ins_p.V401fs|PRDM11_ENST00000424263.2_Frame_Shift_Ins_p.V367fs|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	401							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGACTGGAAGGTCCCCCAGGGG	0.574																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(1201-1203)cccfs		PR domain containing 11																																				SO:0001589	frameshift_variant	56981							g.chr11:45246124_45246125insC	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	Exception_encountered	11.37:g.45246124_45246125insC	ENSP00000435976:p.Val401fs					PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000530656.1_Frame_Shift_Ins_p.P401fs|PRDM11_ENST00000424263.2_Frame_Shift_Ins_p.P367fs|CTD-2560E9.3_ENST00000527450.1_RNA	p.P401fs			Q9NQV5	PRD11_HUMAN			8	1450_1451	+			401					Q8N9F1	Frame_Shift_Ins	INS	ENST00000530656.1	37	c.1201_1202insC																																																																																					0.574	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		7	647						7	647	---	---	---	---	C	45246125	-	C	45246124	7	5	124	1	0	1	1	0	0	0	0	0	12499	1261	44	0	1227	0	PRDM11	11	45246124	Frame_Shift_Ins	INS	-	TCGA-YH-A8SY-01A-11D-A377-08	11872410	45246124	89760392	103	38674											
ZNF408	79797	broad.mit.edu	37	chr11	46726796	46726796	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacctgcgtgggcatttgCggctccacaccggggagcgt	15	13	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:46726796C>T	ENST00000311764.2	+	5	1776	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGCATTTGCGGCTCCACAC	0.642																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	ENST00000311764.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1546-1548)Cgg>Tgg		zinc finger protein 408							54	50	52					11																	46726796		2200	4295	6495	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726796C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1546C>T	11.37:g.46726796C>T	ENSP00000309606:p.Arg516Trp						p.R516W	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN			5	1776	+			516						Missense_Mutation	SNP	ENST00000311764.2	37	c.1546C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032450	0.75504	.	.	ENSG00000175213	ENST00000311764	T	0.25579	1.79	5.54	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42053	D	0.000777	T	0.53722	0.1814	M	0.81179	2.53	0.44555	D	0.997517	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58896	-0.7555	10	0.87932	D	0	-32.8208	16.1921	0.81996	0.0:0.8669:0.1331:0.0	.	508;516	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	516	ENSP00000309606:R516W	ENSP00000309606:R516W	R	+	1	2	ZNF408	46683372	0.183000	0.23186	0.999000	0.59377	0.955000	0.61496	0.810000	0.27183	2.769000	0.95229	0.462000	0.41574	CGG		0.642	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741		6	422	0	0	0	1	0	6	422					T	46726796	C	T	46726796	3	4	124	1	0	0	0	0	1	0	0	0	17941	759	27	1	1596	1	ZNF408	11	46726796	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	1480672	46726796	88279720	104	38675											
KDM2A	22992	broad.mit.edu	37	chr11	67018079	67018081	+	In_Frame_Del	DEL	GAG	GAG	-													tggggggagaggaggaggaaGaggaggaggaggaggaggaa							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:67018079_67018081delGAG	ENST00000529006.2	+	17	3024_3026	c.2578_2580delGAG	c.(2578-2580)gagdel	p.E866del	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	866					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						ggaggaggaagaggaggaggagg	0.655																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(2578-2580)del		lysine (K)-specific demethylase 2A																																				SO:0001651	inframe_deletion	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:67018079_67018081delGAG	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.2578_2580delGAG	11.37:g.67018088_67018090delGAG	ENSP00000432786:p.Glu866del					KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del	p.E866del	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			17	3024_3026	+			866					D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	In_Frame_Del	DEL	ENST00000529006.2	37	c.2578_2580delGAG	CCDS44657.1																																																																																				0.655	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		7	120						7	120	---	---	---	---	-	67018081	GAG	-	67018079	7	5	124	1	0	1	0	1	0	0	0	0	8154	943	33	0	2640	0	KDM2A	11	67018079	In_Frame_Del	DEL	GAG	TCGA-YH-A8SY-01A-11D-A377-08	20291283	67018079	67988437	105	38676											
IFT46	56912	broad.mit.edu	37	chr11	118427645	118427647	+	In_Frame_Del	DEL	TCA	TCA	-													ccagaggggctccatgctctTcatcatcatcatcagaatca							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:118427645_118427647delTCA	ENST00000264021.3	-	4	577_579	c.159_161delTGA	c.(157-162)gatgaa>gaa	p.D53del	IFT46_ENST00000264020.2_In_Frame_Del_p.D104del|IFT46_ENST00000530872.1_In_Frame_Del_p.D104del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	53	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TCCATGCTCTTCATCATCATCAT	0.473																																						ENST00000264020.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(310-315)gaa>ga		intraflagellar transport 46 homolog (Chlamydomonas)																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118427645_118427647delTCA	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"Intraflagellar transport homologs"	26146	protein-coding gene	gene with protein product	"cilia and flagella associated protein 32"		"chromosome 11 open reading frame 60", "intraflagellar transport 46 homolog (Chlamydomonas)"	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.159_161delTGA	11.37:g.118427654_118427656delTCA	ENSP00000264021:p.Asp53del					IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del|IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del	p.DE104del	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN			5	689_691	-			53					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.312_314delTGA	CCDS53718.1																																																																																				0.473	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		7	960						7	960	---	---	---	---	-	118427647	TCA	-	118427645	7	5	124	1	0	1	0	1	0	0	0	0	7590	1783	62	0	789	0	IFT46	11	118427645	In_Frame_Del	DEL	TCA	TCGA-YH-A8SY-01A-11D-A377-08	51409566	118427645	16578871	106	38677											
PVRL1	5818	broad.mit.edu	37	chr11	119535865	119535865	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tagtcacccttgaaggtgtgCcggcgccgacgcagggcgac	15	13	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr11:119535865C>T	ENST00000264025.3	-	6	1676	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	382					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.R382R(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)		TGAAGGTGTGCCGGCGCCGAC	0.657																																						ENST00000264025.3																			1	Substitution - coding silent(1)	p.R382R(1)	kidney(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						c.(1144-1146)cgG>cgA		poliovirus receptor-related 1 (herpesvirus entry mediator C)							135	96	109					11																	119535865		2199	4295	6494	SO:0001819	synonymous_variant	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535865C>T	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.1146G>A	11.37:g.119535865C>T						PVRL1_ENST00000341398.2_Intron	p.R382R	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1676	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	382					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	c.1146G>A	CCDS8426.1																																																																																				0.657	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			5	382	0	0	0	1	0	5	382					T	119535865	C	T	119535865	2	4	124	1	0	0	0	0	0	0	0	1	12889	726	26	2		2	PVRL1	11	119535865	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	1108220	119535865	15470651	107	38678											
C1RL	51279	broad.mit.edu	37	chr12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctccgaggaaggctgtgtgcGgaaggtcagccgcaaactcc	14	12	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:7254566G>A	ENST00000266542.4	-	3	510	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	140	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						GGCTGTGTGCGGAAGGTCAGC	0.622																																						ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(418-420)Cgc>Tgc		complement component 1, r subcomponent-like							118	108	111					12																	7254566		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254566G>A	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.418C>T	12.37:g.7254566G>A	ENSP00000266542:p.Arg140Cys					C1RL_ENST00000544702.1_Missense_Mutation_p.R140C|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000545280.1_Intron	p.R140C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			3	510	-			140			CUB.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.418C>T	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.842|5.842	0.339585|0.339585	0.11069|0.11069	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.30448	.|1.53;1.53;1.53;1.53	3.76|3.76	-0.133|-0.133	0.13485|0.13485	.|CUB (5);	.|1.399260	.|0.04433	.|N	.|0.369511	T|T	0.35799|0.35799	0.0944|0.0944	M|M	0.88640|0.88640	2.97|2.97	0.24098|0.24098	N|N	0.995883|0.995883	.|B;B;B	.|0.33919	.|0.432;0.038;0.285	.|B;B;B	.|0.27887	.|0.051;0.007;0.084	T|T	0.30268|0.30268	-0.9984|-0.9984	5|10	.|0.45353	.|T	.|0.12	.|.	3.3529|3.3529	0.07159|0.07159	0.2989:0.0:0.5228:0.1783|0.2989:0.0:0.5228:0.1783	.|.	.|140;140;140	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	L|C	39|140	.|ENSP00000266542:R140C;ENSP00000441885:R140C;ENSP00000437398:R140C;ENSP00000442611:R140C	.|ENSP00000266542:R140C	P|R	-|-	2|1	0|0	C1RL|C1RL	7145842|7145842	0.147000|0.147000	0.22687|0.22687	0.103000|0.103000	0.21229|0.21229	0.289000|0.289000	0.27227|0.27227	0.193000|0.193000	0.17116|0.17116	-0.034000|-0.034000	0.13713|0.13713	-1.529000|-1.529000	0.00923|0.00923	CCG|CGC		0.622	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		7	787	0	0	0	1	0	7	787					A	7254566	G	A	7254566	3	1	124	1	0	0	0	0	1	0	0	0	1980	1116	39	1	1061	1	C1RL	12	7254566	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		7254566	126597329	108	38679											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		74	266	1	0	8.87156e-34	1	9.54365e-34	74	266					A	25398284	C	A	25398284	3	1	124	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	18143718	25398284	108453611	109	38680											
NR2C1	7181	broad.mit.edu	37	chr12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agattttttctgttgaagcgGcacagttggaagatttttct	10	5	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					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						TGTTGAAGCGGCACAGTTGGA	0.343																																						ENST00000333003.5																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(601-603)gCc>gTc		nuclear receptor subfamily 2, group C, member 1							121	119	120					12																	95451597		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95451597G>A	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.602C>T	12.37:g.95451597G>A	ENSP00000333275:p.Ala201Val					NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V	p.A201V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN			6	932	-			201					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.602C>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934588	0.92458	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92149	-2.98;-2.7;-2.7	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;0.997	D;D;D;D	0.80764	0.989;0.994;0.989;0.985	D	0.95074	0.8207	10	0.44086	T	0.13	.	19.6188	0.95647	0.0:0.0:1.0:0.0	.	201;201;201;201	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	V	201	ENSP00000333275:A201V;ENSP00000376813:A201V;ENSP00000328843:A201V	ENSP00000328843:A201V	A	-	2	0	NR2C1	93975728	1.000000	0.71417	0.966000	0.40874	0.889000	0.51656	9.385000	0.97223	2.646000	0.89796	0.655000	0.94253	GCC		0.343	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297		5	591	0	0	0	1	0	5	591					A	95451597	G	A	95451597	3	1	124	1	0	0	0	0	1	0	0	0	10664	1203	42	2	1323	2	NR2C1	12	95451597	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	70053313	95451597	38400298	110	38681											
PTPN11	5781	broad.mit.edu	37	chr12	112926259	112926259	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcagtgctggaattggCcggacagggacgttcattgt	15	10	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:112926259C>T	ENST00000351677.2	+	12	1590	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	468	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTGGAATTGGCCGGACAGGGA	0.443			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"protein tyrosine phosphatase, non-receptor type 11"	yes	Noonan Syndrome	L			"JMML, AML, MDS"		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1390-1392)ggC>ggT		protein tyrosine phosphatase, non-receptor type 11							122	111	115					12																	112926259		2203	4300	6503	SO:0001819	synonymous_variant	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926259C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1392C>T	12.37:g.112926259C>T							p.G464G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			12	1590	+			468			Substrate binding (By similarity).|Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	c.1392C>T	CCDS9163.1																																																																																				0.443	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			5	359	0	0	0	1	0	5	359					T	112926259	C	T	112926259	2	4	124	1	0	0	0	0	0	0	0	1	12828	726	26	2		2	PTPN11	12	112926259	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	17474662	112926259	20925636	111	38682											
SPPL3	121665	broad.mit.edu	37	chr12	121221520	121221522	+	In_Frame_Del	DEL	GGA	GGA	-													tgttaaatactggcacatcgGgaggagaagaaaagcaaaag							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:121221520_121221522delGGA	ENST00000353487.2	-	5	847_849	c.344_346delTCC	c.(343-348)ctcccg>ccg	p.L115del		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	116						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)					TGGCACATCGGGAGGAGAAGAAA	0.325																																						ENST00000353487.2																			0											c.(343-348)ccg>c		signal peptide peptidase like 3																																				SO:0001651	inframe_deletion	121665					integral to membrane	aspartic-type endopeptidase activity	g.chr12:121221520_121221522delGGA		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.344_346delTCC	12.37:g.121221523_121221525delGGA	ENSP00000288680:p.Leu115del						p.LP115del	NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN			5	847_849	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		116					Q3MJ04|Q8TAU4|Q96DD9	In_Frame_Del	DEL	ENST00000353487.2	37	c.344_346delTCC	CCDS9208.1																																																																																				0.325	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015		78	231						78	231	---	---	---	---	-	121221522	GGA	-	121221520	7	5	124	1	0	1	0	1	0	0	0	0	15142	1232	43	0	836	0	SPPL3	12	121221520	In_Frame_Del	DEL	GGA	TCGA-YH-A8SY-01A-11D-A377-08	8295261	121221520	12630375	112	38683											
LRRC43	254050	broad.mit.edu	37	chr12	122685346	122685346	+	Frame_Shift_Del	DEL	C	C	-													cccaaggagctccggcaggaCccccccatcctccaggtgct							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:122685346delC	ENST00000339777.4	+	10	1702	c.1674delC	c.(1672-1674)gacfs	p.D558fs	LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	558										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)		TCCGGCAGGACCCCCCCATCC	0.667																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1672-1674)gafs		leucine rich repeat containing 43							29	37	34					12																	122685346		1895	4092	5987	SO:0001589	frameshift_variant	254050							g.chr12:122685346delC	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.1674delC	12.37:g.122685346delC	ENSP00000344233:p.Asp558fs					LRRC43_ENST00000425921.1_Frame_Shift_Del_p.D373fs|LRRC43_ENST00000537733.1_3'UTR	p.D558fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	10	1702	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		558					Q6ZVT9	Frame_Shift_Del	DEL	ENST00000339777.4	37	c.1674delC	CCDS45001.1																																																																																				0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		8	296						8	296	---	---	---	---	-	122685346	C	-	122685346	7	5	124	1	0	1	0	1	0	0	0	0	9039	506	18	0	1712	0	LRRC43	12	122685346	Frame_Shift_Del	DEL	C	TCGA-YH-A8SY-01A-11D-A377-08	1463826	122685346	11166549	113	38684											
GPR133	283383	broad.mit.edu	37	chr12	131622750	131622750	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agctctgcccgcacctccaaCgcgaagcccttccactcgga	8	19	1	0	rs34765022		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr12:131622750C>T	ENST00000261654.5	+	24	3064	c.2505C>T	c.(2503-2505)aaC>aaT	p.N835N	GPR133_ENST00000535015.1_Silent_p.N867N|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000376682.4_Silent_p.N521N|GPR133_ENST00000543617.1_Silent_p.N354N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	835					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.N835N(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACCTCCAACGCGAAGCCCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16580	0.0		0.001	False		,,,				2504	0.0					ENST00000261654.5																			1	Substitution - coding silent(1)	p.N835N(1)	large_intestine(1)	NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(2503-2505)aaC>aaT		G protein-coupled receptor 133		C		0,4406		0,0,2203	90	71	78		2505	-0.2	0	12	dbSNP_126	78	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	GPR133	NM_198827.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		835/875	131622750	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131622750C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.2505C>T	12.37:g.131622750C>T						GPR133_ENST00000376682.4_Silent_p.N521N|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Silent_p.N354N|GPR133_ENST00000535015.1_Silent_p.N867N	p.N835N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	24	3064	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		835					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.2505C>T	CCDS9272.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	3.018	-0.202417	0.06219	0.0	2.33E-4	ENSG00000111452	ENST00000335486	.	.	.	4.46	-0.207	0.13189	.	.	.	.	.	T	0.31979	0.0814	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30090	-0.9990	4	.	.	.	.	8.0838	0.30760	0.0:0.47:0.0:0.53	rs34765022	.	.	.	M	189	.	.	T	+	2	0	GPR133	130188703	0.201000	0.23410	0.000000	0.03702	0.034000	0.12701	0.158000	0.16422	0.022000	0.15160	-0.254000	0.11334	ACG		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		34	138	0	0	0	1	0	34	138					T	131622750	C	T	131622750	2	4	124	1	0	0	0	0	0	0	0	1	6672	535	19	1		1	GPR133	12	131622750	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	8937404	131622750	2229145	114	38685											
ELF1	1997	broad.mit.edu	37	chr13	41523989	41523989	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgaggctcccggtgagtctGcatatttttcttgcacctgc	10	11	2	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:41523989G>A	ENST00000239882.3	-	5	796	c.482C>T	c.(481-483)gCa>gTa	p.A161V	ELF1_ENST00000442101.1_Missense_Mutation_p.A137V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	161					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)		CGGTGAGTCTGCATATTTTTC	0.473																																						ENST00000239882.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(481-483)gCa>gTa		E74-like factor 1 (ets domain transcription factor)							196	181	186					13																	41523989		2203	4300	6503	SO:0001583	missense	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41523989G>A	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.482C>T	13.37:g.41523989G>A	ENSP00000239882:p.Ala161Val					ELF1_ENST00000442101.1_Missense_Mutation_p.A137V|ELF1_ENST00000498824.1_5'UTR	p.A161V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	5	796	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	161					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	ENST00000239882.3	37	c.482C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259936	0.23051	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.20332	2.11;2.08	5.84	-2.05	0.07321	.	0.767917	0.12353	N	0.476371	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.003;0.004	T	0.27971	-1.0058	10	0.33940	T	0.23	.	1.3405	0.02153	0.2585:0.0968:0.3523:0.2924	.	137;161	E9PDQ9;P32519	.;ELF1_HUMAN	V	137;161	ENSP00000405580:A137V;ENSP00000239882:A161V	ENSP00000239882:A161V	A	-	2	0	ELF1	40421989	0.001000	0.12720	0.033000	0.17914	0.656000	0.38851	0.096000	0.15147	-0.099000	0.12263	-0.282000	0.10007	GCA		0.473	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3	NM_172373		6	785	0	0	0	1	0	6	785					A	41523989	G	A	41523989	3	1	124	1	0	0	0	0	1	0	0	0	5071	1319	46	2	1397	2	ELF1	13	41523989	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		41523989	73645889	115	38686											
PCDH8	5100	broad.mit.edu	37	chr13	53420520	53420520	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	accaggagcgccctgaacacGcgaccgggtggctcctgcga	14	15	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:53420520G>A	ENST00000377942.3	-	1	2255	c.2052C>T	c.(2050-2052)cgC>cgT	p.R684R	PCDH8_ENST00000338862.4_Silent_p.R684R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	684	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCTGAACACGCGACCGGGTG	0.706																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(2050-2052)cgC>cgT		protocadherin 8							7	10	9					13																	53420520		2101	4198	6299	SO:0001819	synonymous_variant	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420520G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2052C>T	13.37:g.53420520G>A						PCDH8_ENST00000338862.4_Silent_p.R684R	p.R684R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2255	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	684			Cadherin 6.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	ENST00000377942.3	37	c.2052C>T	CCDS9438.1																																																																																				0.706	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		26	91	0	0	0	1	0	26	91					A	53420520	G	A	53420520	2	1	124	1	0	0	0	0	0	0	0	1	11559	1074	38	1		1	PCDH8	13	53420520	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	11896531	53420520	61749358	116	38687											
PCDH17	27253	broad.mit.edu	37	chr13	58208913	58208913	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcacttacaactgccgcatcGccgagtacagccacccgcag	9	17	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr13:58208913G>A	ENST00000377918.3	+	1	2259	c.2233G>A	c.(2233-2235)Gcc>Acc	p.A745T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	745					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)		CTGCCGCATCGCCGAGTACAG	0.547																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2233-2235)Gcc>Acc		protocadherin 17							77	73	74					13																	58208913		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208913G>A	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.2233G>A	13.37:g.58208913G>A	ENSP00000367151:p.Ala745Thr						p.A745T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2259	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	745					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2233G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092421	0.55968	.	.	ENSG00000118946	ENST00000377918	T	0.56444	0.46	5.55	5.55	0.83447	.	0.097709	0.64402	D	0.000001	T	0.58680	0.2139	M	0.69823	2.125	0.53005	D	0.999961	P;P	0.47302	0.835;0.893	B;B	0.43331	0.416;0.285	T	0.60835	-0.7184	9	.	.	.	.	19.5072	0.95124	0.0:0.0:1.0:0.0	.	745;745	O14917-2;O14917	.;PCD17_HUMAN	T	745	ENSP00000367151:A745T	.	A	+	1	0	PCDH17	57106914	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	7.968000	0.87980	2.607000	0.88179	0.591000	0.81541	GCC		0.547	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		26	168	0	0	0	1	0	26	168					A	58208913	G	A	58208913	3	1	124	1	0	0	0	0	1	0	0	0	11554	1087	38	1	2235	1	PCDH17	13	58208913	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	4788393	58208913	56960965	117	38688											
RYR3	6263	broad.mit.edu	37	chr15	34040439	34040439	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gcgggaaaatgagaagcttcGaagtgtgtcccaggccaacc	13	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:34040439G>T	ENST00000389232.4	+	54	8184	c.8114G>T	c.(8113-8115)cGa>cTa	p.R2705L	RYR3_ENST00000415757.3_Missense_Mutation_p.R2705L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	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)	p.R2705Q(2)		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)		GAGAAGCTTCGAAGTGTGTCC	0.577																																						ENST00000389232.4																			2	Substitution - Missense(2)	p.R2705Q(2)	large_intestine(2)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(8113-8115)cGa>cTa		ryanodine receptor 3							62	67	66					15																	34040439		1954	4150	6104	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040439G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8114G>T	15.37:g.34040439G>T	ENSP00000373884:p.Arg2705Leu					RYR3_ENST00000415757.3_Missense_Mutation_p.R2705L	p.R2705L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8184	+		all_lung(180;7.18e-09)	2705			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8114G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410408	0.83340	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96830	-4.14;-4.14	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	D	0.94155	0.8125	L	0.41492	1.28	0.58432	D	0.999992	B;B	0.32543	0.375;0.009	B;B	0.33392	0.163;0.018	D	0.93169	0.6564	10	0.49607	T	0.09	.	18.8778	0.92345	0.0:0.0:1.0:0.0	.	2705;2705	Q15413-2;Q15413	.;RYR3_HUMAN	L	2705	ENSP00000373884:R2705L;ENSP00000399610:R2705L	ENSP00000354735:R2705L	R	+	2	0	RYR3	31827731	1.000000	0.71417	0.991000	0.47740	0.897000	0.52465	7.158000	0.77470	2.679000	0.91253	0.655000	0.94253	CGA		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			15	133	1	0	1.52009e-12	1	1.57174e-12	15	133					T	34040439	G	T	34040439	3	4	124	1	0	0	0	0	1	0	0	0	13820	1058	37	3	8328	3	RYR3	15	34040439	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		34040439	68490953	118	38689											
CHST14	113189	broad.mit.edu	37	chr15	40764233	40764233	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtggatgaggaccctgagcGcatgaatgagcattggatgc	16	7	0	4	rs397514706		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:40764233G>A	ENST00000306243.5	+	1	1074	c.821G>A	c.(820-822)cGc>cAc	p.R274H	CHST14_ENST00000559991.1_Missense_Mutation_p.R249H	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	274					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GACCCTGAGCGCATGAATGAG	0.587																																						ENST00000306243.5																			0				cervix(1)|large_intestine(1)|prostate(2)	4						c.(820-822)cGc>cAc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14							126	130	129					15																	40764233		2203	4300	6503	SO:0001583	missense	113189				carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding	g.chr15:40764233G>A	AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.821G>A	15.37:g.40764233G>A	ENSP00000307297:p.Arg274His					CHST14_ENST00000559991.1_Missense_Mutation_p.R249H	p.R274H	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)	1	1074	+		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	274					Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	ENST00000306243.5	37	c.821G>A	CCDS10059.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769808	0.49680	.	.	ENSG00000169105	ENST00000306243	T	0.75260	-0.92	4.92	3.02	0.34903	.	0.133960	0.44097	N	0.000487	T	0.61714	0.2369	L	0.40543	1.245	0.43403	D	0.995531	B	0.09022	0.002	B	0.08055	0.003	T	0.52859	-0.8519	10	0.28530	T	0.3	-11.2791	8.6952	0.34291	0.1901:0.0:0.8099:0.0	.	274	Q8NCH0	CHSTE_HUMAN	H	274	ENSP00000307297:R274H	ENSP00000307297:R274H	R	+	2	0	CHST14	38551525	0.991000	0.36638	0.986000	0.45419	0.982000	0.71751	1.809000	0.38922	0.650000	0.30769	0.655000	0.94253	CGC		0.587	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252251.1	NM_130468		5	505	0	0	0	1	0	5	505					A	40764233	G	A	40764233	3	1	124	1	0	0	0	0	1	0	0	0	3411	1087	38	1	823	1	CHST14	15	40764233	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	6723794	40764233	61767159	119	38690											
CAPN3	825	broad.mit.edu	37	chr15	42695097	42695097	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gggaggtgtcccagcgcttcCgcctgcctcccagcgagtac	13	16	0	0	rs375279877		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:42695097C>T	ENST00000397163.3	+	13	1861	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	CAPN3_ENST00000357568.3_Missense_Mutation_p.R548C|CAPN3_ENST00000337571.4_5'Flank|CAPN3_ENST00000349748.3_Missense_Mutation_p.R500C|CAPN3_ENST00000397200.4_Missense_Mutation_p.R36C|CAPN3_ENST00000356316.3_Missense_Mutation_p.R461C|CAPN3_ENST00000397204.4_5'Flank|CAPN3_ENST00000569136.1_5'Flank|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000561817.1_5'Flank|CAPN3_ENST00000318023.7_Missense_Mutation_p.R548C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	548	Domain III.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCGCTTCCGCCTGCCTCC	0.592																																						ENST00000397163.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47						c.(1642-1644)Cgc>Tgc		calpain 3, (p94)		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	120	99	106		1642,1642,1498,106	4.9	1	15		106	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense	CAPN3	NM_000070.2,NM_024344.1,NM_173087.1,NM_173088.1	180,180,180,180	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	548/822,548/816,500/730,36/310	42695097	1,13003	2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42695097C>T	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1642C>T	15.37:g.42695097C>T	ENSP00000380349:p.Arg548Cys					CAPN3_ENST00000356316.3_Missense_Mutation_p.R461C|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.R36C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R548C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R500C|CAPN3_ENST00000318023.7_Missense_Mutation_p.R548C	p.R548C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	13	1861	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	548			Domain III.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.1642C>T	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987438	0.74589	0.0	1.16E-4	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.87	4.87	0.63330	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	U	0.000000	D	0.82481	0.5046	L	0.38649	1.16	0.80722	D	1	B;B;B;B;B;B	0.33857	0.102;0.208;0.083;0.206;0.429;0.053	B;B;B;B;B;B	0.31290	0.031;0.077;0.018;0.032;0.127;0.075	T	0.82752	-0.0302	10	0.49607	T	0.09	.	18.1939	0.89814	0.0:1.0:0.0:0.0	.	413;461;500;548;548;461	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	C	461;36;548;548;500;548;36	ENSP00000348667:R461C;ENSP00000380349:R548C;ENSP00000350181:R548C;ENSP00000183936:R500C;ENSP00000326281:R548C;ENSP00000380384:R36C	ENSP00000326281:R548C	R	+	1	0	CAPN3	40482389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.733000	0.68571	2.527000	0.85204	0.455000	0.32223	CGC		0.592	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			79	416	0	0	0	1	0	79	416					T	42695097	C	T	42695097	3	4	124	1	0	0	0	0	1	0	0	0	2635	652	23	1	1744	1	CAPN3	15	42695097	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	1930864	42695097	59836295	120	38691											
GLCE	26035	broad.mit.edu	37	chr15	69553616	69553616	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	ccaaagggctgctttatggcGaatgtggctgataagtctag	13	7	1	1	rs377198684		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr15:69553616G>A	ENST00000261858.2	+	4	1005	c.777G>A	c.(775-777)gcG>gcA	p.A259A	GLCE_ENST00000559420.2_Silent_p.A195A|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	259					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						GCTTTATGGCGAATGTGGCTG	0.393																																						ENST00000261858.2																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(775-777)gcG>gcA		glucuronic acid epimerase							155	151	152					15																	69553616		2200	4298	6498	SO:0001819	synonymous_variant	26035				heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity	g.chr15:69553616G>A	AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.777G>A	15.37:g.69553616G>A						GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Silent_p.A195A	p.A259A	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN			4	1005	+			259					Q6GUQ2	Silent	SNP	ENST00000261858.2	37	c.777G>A	CCDS32277.1																																																																																				0.393	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015554		5	549	0	0	0	1	0	5	549					A	69553616	G	A	69553616	2	1	124	1	0	0	0	0	0	0	0	1	6461	1045	37	1		1	GLCE	15	69553616	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	26858519	69553616	32977776	121	38692											
CASKIN1	57524	broad.mit.edu	37	chr16	2228602	2228602	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aggtcgtcgaacatgctgccGatgtcgtccaggatgctgcc	13	12	0	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:2228602G>A	ENST00000343516.6	-	20	4337	c.4245C>T	c.(4243-4245)atC>atT	p.I1415I		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1415					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ACATGCTGCCGATGTCGTCCA	0.741																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(4243-4245)atC>atT		CASK interacting protein 1							23	28	26					16																	2228602		2147	4267	6414	SO:0001819	synonymous_variant	57524				signal transduction	cytoplasm		g.chr16:2228602G>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.4245C>T	16.37:g.2228602G>A							p.I1415I	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			20	4337	-			1415					Q9P2P0	Silent	SNP	ENST00000343516.6	37	c.4245C>T	CCDS42103.1																																																																																				0.741	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		12	153	0	0	0	1	0	12	153					A	2228602	G	A	2228602	2	1	124	1	0	0	0	0	0	0	0	1	2673	1048	37	1		1	CASKIN1	16	2228602	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		2228602	88126151	122	38693											
CREBBP	1387	broad.mit.edu	37	chr16	3823809	3823809	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cccacactcatcgccccgctGgatgacgggaactggttctg	11	15	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:3823809G>A	ENST00000262367.5	-	13	3215	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	CREBBP_ENST00000382070.3_Silent_p.S764S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	802					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)		TCGCCCCGCTGGATGACGGGA	0.607			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"T, N, F, Mis, O"	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"MLL, MORF, RUNXBP2"		"ALL, AML, DLBCL, B-NHL "		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2404-2406)tcC>tcT		CREB binding protein							50	53	52					16																	3823809		2197	4300	6497	SO:0001819	synonymous_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3823809G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2406C>T	16.37:g.3823809G>A						CREBBP_ENST00000382070.3_Silent_p.S764S	p.S802S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	13	3215	-		Ovarian(90;0.0266)	802					D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.2406C>T	CCDS10509.1																																																																																				0.607	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		54	213	0	0	0	1	0	54	213					A	3823809	G	A	3823809	2	1	124	1	0	0	0	0	0	0	0	1	3870	1335	47	2		2	CREBBP	16	3823809	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1595207	3823809	86530944	123	38694											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-													tggaggtccctttggcttagCcaccaccaccaccacctcct							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(1693-1698)gct>g		protein disulfide isomerase-like, testis expressed																																				SO:0001651	inframe_deletion	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370700_20370702delCCA		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1694_1696delTGG	16.37:g.20370709_20370711delCCA	ENSP00000305465:p.Val565del						p.VA565del	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			12	1942_1944	-			565					Q8IVQ5	In_Frame_Del	DEL	ENST00000302451.4	37	c.1694_1696delTGG	CCDS10584.1																																																																																				0.478	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		8	1196						8	1196	---	---	---	---	-	20370702	CCA	-	20370700	7	5	124	1	0	1	0	1	0	0	0	0	11716	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-YH-A8SY-01A-11D-A377-08	16546891	20370700	69984053	124	38695											
GPT2	84706	broad.mit.edu	37	chr16	46943627	46943627	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gatcctcgtctccgggggcgGcaagtcacggacaggtgtga	16	11	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:46943627G>A	ENST00000340124.4	+	6	720	c.608G>A	c.(607-609)gGc>gAc	p.G203D	GPT2_ENST00000440783.2_Missense_Mutation_p.G103D	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	203					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	TCCGGGGGCGGCAAGTCACGG	0.537																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(307-309)gGc>gAc		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						60	59	59					16																	46943627		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46943627G>A		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.608G>A	16.37:g.46943627G>A	ENSP00000345282:p.Gly203Asp					GPT2_ENST00000340124.4_Missense_Mutation_p.G203D	p.G103D	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			6	973	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	203					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.308G>A	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740372	0.30865	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.22134	1.97;2.87	5.12	5.12	0.69794	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.052137	0.85682	D	0.000000	T	0.15565	0.0375	N	0.21448	0.665	0.80722	D	1	B	0.15141	0.012	B	0.20767	0.031	T	0.06770	-1.0808	10	0.07813	T	0.8	.	18.7502	0.91810	0.0:0.0:1.0:0.0	.	203	Q8TD30	ALAT2_HUMAN	D	203;103	ENSP00000345282:G203D;ENSP00000413804:G103D	ENSP00000345282:G203D	G	+	2	0	GPT2	45501128	1.000000	0.71417	0.998000	0.56505	0.298000	0.27526	6.049000	0.71053	2.664000	0.90586	0.655000	0.94253	GGC		0.537	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			4	272	0	0	0	1	0	4	272					A	46943627	G	A	46943627	3	1	124	1	0	0	0	0	1	0	0	0	6768	1203	42	2	626	2	GPT2	16	46943627	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	26572927	46943627	43411126	125	38696											
CES8	283848	broad.mit.edu	37	chr16	67040714	67040714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atactgggccaactttgcccGcacagggtgagtctgccccc	11	15	1	1	rs201670214		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:67040714G>A	ENST00000326686.5	+	13	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000397205.2_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000540579.1_Missense_Mutation_p.R406H			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	504						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AACTTTGCCCGCACAGGGTGA	0.567																																						ENST00000326686.5																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1510-1512)cGc>cAc		carboxylesterase 4A		G	HIS/ARG,,	0,4074		0,0,2037	83	87	86		1217,,	2.2	0.9	16		86	1,8421		0,1,4210	yes	missense,intron,intron	CES4A	NM_001190201.1,NM_001190202.1,NM_173815.6	29,,	0,1,6247	AA,AG,GG		0.0119,0.0,0.0080	benign,,	406/464,,	67040714	1,12495	2037	4211	6248	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67040714G>A	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.1511G>A	16.37:g.67040714G>A	ENSP00000314145:p.Arg504His					CES4A_ENST00000540579.1_Missense_Mutation_p.R406H|CES4A_ENST00000398354.1_Missense_Mutation_p.R434H|CES4A_ENST00000540947.2_Intron|CES4A_ENST00000338718.4_Intron|CES4A_ENST00000541479.1_Missense_Mutation_p.R457H|CES4A_ENST00000535696.1_Intron|CES4A_ENST00000397205.2_Intron	p.R504H			Q5XG92	EST4A_HUMAN			13	1511	+			504					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1511G>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515376	0.44763	0.0	1.19E-4	ENSG00000172824	ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.41	2.25	0.28309	.	0.731670	0.12145	N	0.495484	T	0.62539	0.2436	M	0.75884	2.315	0.25581	N	0.986796	B	0.23735	0.09	B	0.21546	0.035	T	0.57271	-0.7840	10	0.59425	D	0.04	.	4.9007	0.13773	0.085:0.1483:0.6133:0.1533	.	457	F5H5S4	.	H	457;434;504;397;406	ENSP00000443175:R457H;ENSP00000381397:R434H;ENSP00000314145:R504H;ENSP00000441103:R397H;ENSP00000441907:R406H	ENSP00000314145:R504H	R	+	2	0	CES4A	65598215	0.001000	0.12720	0.861000	0.33841	0.801000	0.45260	0.783000	0.26802	0.204000	0.20548	0.591000	0.81541	CGC		0.567	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		5	274	0	0	0	1	0	5	274					A	67040714	G	A	67040714	3	1	124	1	0	0	0	0	1	0	0	0	3282	1087	38	1	1642	1	CES8	16	67040714	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	20097087	67040714	23314039	126	38697											
C16orf70	80262	broad.mit.edu	37	chr16	67180989	67180989	+	Frame_Shift_Del	DEL	C	C	-													gcctcggtgaccctgtatggCccccccaggcctggtagcca							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:67180989delC	ENST00000219139.3	+	16	1412	c.1224delC	c.(1222-1224)ggcfs	p.G408fs	C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		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)		CCCTGTATGGCCCCCCCAGGC	0.597																																						ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)ggfs		chromosome 16 open reading frame 70				2,4262		0,2,2130	181	156	164			6.2	1	16		165	0,8254		0,0,4127	no	frameshift	C16orf70	NM_025187.3		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016			67180989	2,12516	2198	4300	6498	SO:0001589	frameshift_variant	80262							g.chr16:67180989delC	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.1224delC	16.37:g.67180989delC	ENSP00000219139:p.Gly408fs					C16orf70_ENST00000569600.1_Frame_Shift_Del_p.G408fs	p.G408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Del	DEL	ENST00000219139.3	37	c.1224delC	CCDS10828.1																																																																																				0.597	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		8	471						8	471	---	---	---	---	-	67180989	C	-	67180989	7	5	124	1	0	1	0	1	0	0	0	0	1834	726	26	0	1286	0	C16orf70	16	67180989	Frame_Shift_Del	DEL	C	TCGA-YH-A8SY-01A-11D-A377-08	140275	67180989	23173764	127	38698											
CIRH1A	84916	broad.mit.edu	37	chr16	69197063	69197063	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aataccaacaaccttgtcatCgctcattcggaccagcaggt	7	13	2	0	rs554592005		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:69197063C>T	ENST00000314423.7	+	14	1806	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	CIRH1A_ENST00000563094.1_Silent_p.I543I|CIRH1A_ENST00000352319.4_Silent_p.I428I			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	543					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)		ACCTTGTCATCGCTCATTCGG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18157	0.0		0.001	False		,,,				2504	0.0				Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1627-1629)atC>atT		cirrhosis, autosomal recessive 1A (cirhin)							218	187	198					16																	69197063		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69197063C>T	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.1629C>T	16.37:g.69197063C>T						CIRH1A_ENST00000314423.7_Silent_p.I543I|CIRH1A_ENST00000352319.4_Silent_p.I428I	p.I543I			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	14	1663	+			543					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.1629C>T	CCDS10872.1																																																																																				0.498	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		57	549	0	0	0	1	0	57	549					T	69197063	C	T	69197063	2	4	124	1	0	0	0	0	0	0	0	1	3443	874	31	1		1	CIRH1A	16	69197063	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	2016074	69197063	21157690	128	38699											
MTSS1L	92154	broad.mit.edu	37	chr16	70713713	70713713	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtggtccttgtccagctGgttggccgccttcttccagt	12	14	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:70713713G>A	ENST00000338779.6	-	5	632	c.358C>T	c.(358-360)Cag>Tag	p.Q120*		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	120	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TTGTCCAGCTGGTTGGCCGCC	0.697																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(358-360)Cag>Tag		metastasis suppressor 1-like							40	38	38					16																	70713713		2198	4300	6498	SO:0001587	stop_gained	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70713713G>A		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.358C>T	16.37:g.70713713G>A	ENSP00000341171:p.Gln120*						p.Q120*	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			5	632	-			120			IMD.		A6NJI7|Q9BUA8	Nonsense_Mutation	SNP	ENST00000338779.6	37	c.358C>T	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394476	0.96009	.	.	ENSG00000132613	ENST00000254951;ENST00000338779	.	.	.	4.84	4.84	0.62591	.	0.250943	0.41294	D	0.000908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-5.8949	12.979	0.58554	0.0:0.0:0.8383:0.1617	.	.	.	.	X	120	.	ENSP00000254951:Q120X	Q	-	1	0	MTSS1L	69271214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.575000	0.82447	2.250000	0.74265	0.393000	0.25936	CAG		0.697	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		12	76	0	0	0	1	0	12	76					A	70713713	G	A	70713713	4	1	124	1	0	0	0	0	0	1	0	0	10004	1357	47	2	1929	2	MTSS1L	16	70713713	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	1516650	70713713	19641040	129	38700											
ANKRD11	29123	broad.mit.edu	37	chr16	89347349	89347349	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaacggcagccggtggGcagtgcaaagcgtcgacttt	15	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr16:89347349G>A	ENST00000301030.4	-	9	6061	c.5601C>T	c.(5599-5601)tgC>tgT	p.C1867C	ANKRD11_ENST00000378330.2_Silent_p.C1867C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1867	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCCGGTGGGCAGTGCAAAG	0.622																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5599-5601)tgC>tgT		ankyrin repeat domain 11							42	46	45					16																	89347349		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89347349G>A	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.5601C>T	16.37:g.89347349G>A						ANKRD11_ENST00000378330.2_Silent_p.C1867C	p.C1867C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	6061	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1867			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.5601C>T	CCDS32513.1																																																																																				0.622	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		21	235	0	0	0	1	0	21	235					A	89347349	G	A	89347349	2	1	124	1	0	0	0	0	0	0	0	1	639	1195	42	2		2	ANKRD11	16	89347349	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	18633636	89347349	1007404	130	38701											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	13	14	3	0	rs28934578		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		56	249	0	0	0	1	0	56	249					T	7578406	C	T	7578406	3	4	124	1	0	0	0	0	1	0	0	0	16434	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		7578406	73616804	131	38702											
TRPV2	51393	broad.mit.edu	37	chr17	16335490	16335492	+	In_Frame_Del	DEL	TGC	TGC	-													gctgcacttccgcggcatggTgctgctgctgctgctggcct							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:16335490_16335492delTGC	ENST00000338560.7	+	12	2264_2266	c.1865_1867delTGC	c.(1864-1869)gtgctg>gtg	p.L627del	TRPV2_ENST00000577397.1_In_Frame_Del_p.L197del|TRPV2_ENST00000583241.1_3'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	627					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)		CGCGGCATGGTGCTGCTGCTGCT	0.596																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1864-1869)gtg>g		transient receptor potential cation channel, subfamily V, member 2																																				SO:0001651	inframe_deletion	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335490_16335492delTGC	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.1865_1867delTGC	17.37:g.16335499_16335501delTGC	ENSP00000342222:p.Leu627del					TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del	p.VL622del	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2264_2266	+			622					A6NML2|A8K0Z0|Q9Y670	In_Frame_Del	DEL	ENST00000338560.7	37	c.1865_1867delTGC	CCDS32576.1																																																																																				0.596	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		12	274						12	274	---	---	---	---	-	16335492	TGC	-	16335490	7	5	124	1	0	1	0	1	0	0	0	0	16649	1696	59	0	1907	0	TRPV2	17	16335490	In_Frame_Del	DEL	TGC	TCGA-YH-A8SY-01A-11D-A377-08	8757084	16335490	64859720	132	38703											
HOXB5	3215	broad.mit.edu	37	chr17	46670813	46670813	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcggggctcctgggcgggcgCggggaaggcgcgcgagctct	22	12	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr17:46670813C>T	ENST00000239151.5	-	1	510	c.232G>A	c.(232-234)Gcg>Acg	p.A78T	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	78					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						TGGGCGGGCGCGGGGAAGGCG	0.687																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(232-234)Gcg>Acg		homeobox B5							11	14	13					17																	46670813		2185	4244	6429	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670813C>T		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.232G>A	17.37:g.46670813C>T	ENSP00000239151:p.Ala78Thr					HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000467155.2_RNA	p.A78T	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	510	-			78					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.232G>A	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530435	0.27387	.	.	ENSG00000120075	ENST00000239151	D	0.92299	-3.01	5.44	0.916	0.19373	.	0.579461	0.18522	N	0.138741	D	0.82545	0.5060	N	0.21282	0.65	0.29926	N	0.822337	B	0.15930	0.015	B	0.06405	0.002	T	0.72811	-0.4180	10	0.32370	T	0.25	.	6.425	0.21764	0.2685:0.5605:0.0977:0.0732	.	78	P09067	HXB5_HUMAN	T	78	ENSP00000239151:A78T	ENSP00000239151:A78T	A	-	1	0	HOXB5	44025812	0.126000	0.22350	0.998000	0.56505	0.904000	0.53231	0.035000	0.13797	0.663000	0.31027	-0.300000	0.09419	GCG		0.687	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			13	92	0	0	0	1	0	13	92					T	46670813	C	T	46670813	3	4	124	1	0	0	0	0	1	0	0	0	7334	768	27	1	585	1	HOXB5	17	46670813	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	30335323	46670813	34524397	133	38704											
POTEC	388468	broad.mit.edu	37	chr18	14513663	14513663	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatgactaaagaaaatacctCagaattcattttcttttcag	4	7	4	3	rs369185563		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:14513663C>T	ENST00000358970.5	-	10	1530	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	511								p.E511K(3)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAAATACCTCAGAATTCATT	0.269																																						ENST00000358970.5																			3	Substitution - Missense(3)	p.E511K(3)	kidney(3)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1531-1533)Gag>Aag		POTE ankyrin domain family, member C																																				SO:0001583	missense	388468							g.chr18:14513663C>T	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.1531G>A	18.37:g.14513663C>T	ENSP00000351856:p.Glu511Lys						p.E511K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1530	-			511						Missense_Mutation	SNP	ENST00000358970.5	37	c.1531G>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	C	3.685	-0.064635	0.07273	.	.	ENSG00000183206	ENST00000358970	T	0.33216	1.42	1.53	1.53	0.23141	.	.	.	.	.	T	0.39118	0.1066	M	0.62723	1.935	0.20074	N	0.999937	D	0.57571	0.98	P	0.57009	0.811	T	0.18871	-1.0323	9	0.21014	T	0.42	.	6.4676	0.21990	0.0:1.0:0.0:0.0	.	511	B2RU33	POTEC_HUMAN	K	511	ENSP00000351856:E511K	ENSP00000351856:E511K	E	-	1	0	POTEC	14503663	0.954000	0.32549	0.984000	0.44739	0.060000	0.15804	0.726000	0.25984	1.146000	0.42352	0.205000	0.17691	GAG		0.269	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	419	0	0	0	1	0	5	419					T	14513663	C	T	14513663	3	4	124	1	0	0	0	0	1	0	0	0	12304	835	29	2	105	2	POTEC	18	14513663	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		14513663	63563585	134	38705											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-													tctcagcaccaagaggaactTcctcctcctcctctgcctcc							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	0				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	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.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del					NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del	p.LP69del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			10	660						10	660	---	---	---	---	-	55992286	TCC	-	55992284	7	5	124	1	0	1	0	1	0	0	0	0	10353	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-YH-A8SY-01A-11D-A377-08	41478621	55992284	22084964	135	38706											
MALT1	10892	broad.mit.edu	37	chr18	56409220	56409220	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctgaatctcttgtgcGgaatctacagtgggccaagg	12	9	3	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr18:56409220G>A	ENST00000348428.3	+	14	1985	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.R565Q	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	576					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						TCTCTTGTGCGGAATCTACAG	0.378			T	BIRC3	MALT																																	ENST00000348428.3				Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(1726-1728)cGg>cAg		mucosa associated lymphoid tissue lymphoma translocation gene 1							103	97	99					18																	56409220		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56409220G>A		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6819	protein-coding gene	gene with protein product	"paracaspase"	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1727G>A	18.37:g.56409220G>A	ENSP00000319279:p.Arg576Gln					RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.R565Q	p.R576Q	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN			14	1985	+			576					Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1727G>A	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587606	0.86851	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.14144	2.54;2.53	5.53	5.53	0.82687	.	0.112546	0.64402	D	0.000012	T	0.35128	0.0921	L	0.59436	1.845	0.34914	D	0.747776	D;D	0.89917	1.0;0.999	D;P	0.67725	0.953;0.899	T	0.34551	-0.9824	10	0.62326	D	0.03	-17.4564	19.053	0.93053	0.0:0.0:1.0:0.0	.	565;576	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	Q	576;565	ENSP00000319279:R576Q;ENSP00000304161:R565Q	ENSP00000304161:R565Q	R	+	2	0	MALT1	54560200	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.500000	0.60387	2.600000	0.87896	0.446000	0.29264	CGG		0.378	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2			4	273	0	0	0	1	0	4	273					A	56409220	G	A	56409220	3	1	124	1	0	0	0	0	1	0	0	0	9243	1116	39	1	1781	1	MALT1	18	56409220	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	416936	56409220	21668028	136	38707											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-													ccttgggccctggtcgcgggGctgctgctgctgctgctgct					rs564151103	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	251						7	251	---	---	---	---	-	6531151	GCT	-	6531149	7	5	124	1	0	1	0	1	0	0	0	0	16364	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-YH-A8SY-01A-11D-A377-08		6531149	52597834	137	38708											
HNRNPM	4670	broad.mit.edu	37	chr19	8550640	8550640	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catgggcctggtcatggaccGcatgggctccgtggagcgca	16	12	1	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:8550640G>A	ENST00000325495.4	+	14	1369	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R404H	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	443	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						GTCATGGACCGCATGGGCTCC	0.711																																						ENST00000348943.3																			0				endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						c.(1210-1212)cGc>cAc		heterogeneous nuclear ribonucleoprotein M							64	69	67					19																	8550640		2203	4298	6501	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550640G>A	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.1328G>A	19.37:g.8550640G>A	ENSP00000325376:p.Arg443His					HNRNPM_ENST00000325495.4_Missense_Mutation_p.R443H	p.R404H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN			15	1443	+			443			27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1211G>A	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247682	0.95305	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.18960	2.18;2.51	5.76	5.76	0.90799	.	0.102866	0.64402	D	0.000001	T	0.48259	0.1490	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;0.994	D;D;P;P	0.66979	0.926;0.948;0.599;0.719	T	0.46119	-0.9214	10	0.87932	D	0	.	18.534	0.91002	0.0:0.0:1.0:0.0	.	283;443;404;328	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	H	443;404;328	ENSP00000325376:R443H;ENSP00000325732:R404H	ENSP00000325376:R443H	R	+	2	0	HNRNPM	8456640	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.508000	0.81686	2.724000	0.93272	0.491000	0.48974	CGC		0.711	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			6	699	0	0	0	1	0	6	699					A	8550640	G	A	8550640	3	1	124	1	0	0	0	0	1	0	0	0	7301	1087	38	1	1382	1	HNRNPM	19	8550640	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	2019491	8550640	50578343	138	38709											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	2	10	1	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:21606468C>T	ENST00000355504.4	+	2	889	c.623C>T	c.(622-624)cCt>cTt	p.P208L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.P336L	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1006-1008)cCt>cTt		zinc finger protein 493							37	41	39					19																	21606468		2199	4296	6495	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606468C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.623C>T	19.37:g.21606468C>T	ENSP00000347691:p.Pro208Leu					ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L|CTD-2561J22.3_ENST00000600810.1_Intron	p.P336L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1116	+			208					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1007C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.008	-1.890286	0.00527	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.07114	3.22;3.22	0.985	0.985	0.19779	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00967	0.0032	N	0.00014	-2.9	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41945	-0.9480	9	0.02654	T	1	.	4.9966	0.14243	0.0:0.1966:0.0:0.8034	.	208;336	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	336;208	ENSP00000376110:P336L;ENSP00000347691:P208L	ENSP00000347691:P208L	P	+	2	0	ZNF493	21398308	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	1.348000	0.33987	-0.723000	0.04915	-0.773000	0.03387	CCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		6	488	0	0	0	1	0	6	488					T	21606468	C	T	21606468	3	4	124	1	0	0	0	0	1	0	0	0	17997	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	13055828	21606468	37522515	139	38710											
ATP1A3	478	broad.mit.edu	37	chr19	42471441	42471441	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgagtttgcggatttcgtcGtagacgaagatgaggaaact	13	5	0	4	rs372919447		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:42471441G>A	ENST00000302102.5	-	22	3123	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y	ATP1A3_ENST00000545399.1_Silent_p.Y1004Y|ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					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						GGATTTCGTCGTAGACGAAGA	0.652																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(3010-3012)taC>taT		ATPase, Na+/K+ transporting, alpha 3 polypeptide		G		1,4405	2.1+/-5.4	0,1,2202	41	41	41		2973	-3.5	0.9	19		41	0,8600		0,0,4300	no	coding-synonymous	ATP1A3	NM_152296.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		991/1014	42471441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471441G>A		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.2973C>T	19.37:g.42471441G>A						ATP1A3_ENST00000543770.1_Silent_p.Y1002Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y|ATP1A3_ENST00000302102.5_Silent_p.Y991Y	p.Y1004Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			22	3165	-			991					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.3012C>T	CCDS12594.1																																																																																				0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		37	153	0	0	0	1	0	37	153					A	42471441	G	A	42471441	2	1	124	1	0	0	0	0	0	0	0	1	1131	1140	40	1		1	ATP1A3	19	42471441	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	20864973	42471441	16657542	140	38711											
ZNF285	26974	broad.mit.edu	37	chr19	44890662	44890662	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttctctctgctcatgtagtCtttgatgagtcagaaggtcc	9	9	5	3	rs150036734	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:44890662C>T	ENST00000330997.4	-	4	1809	c.1745G>A	c.(1744-1746)aGa>aAa	p.R582K	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.R582K|ZNF285_ENST00000591679.1_Missense_Mutation_p.R589K	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	582					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						CTCATGTAGTCTTTGATGAGT	0.413													C|||	17	0.00339457	0.0008	0.0014	5008	,	,		24367	0.0		0.0	False		,,,				2504	0.0153					ENST00000330997.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1744-1746)aGa>aAa		zinc finger protein 285							136	114	121					19																	44890662		2203	4300	6503	SO:0001583	missense	26974							g.chr19:44890662C>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1745G>A	19.37:g.44890662C>T	ENSP00000333595:p.Arg582Lys					ZNF285_ENST00000544719.2_Missense_Mutation_p.R582K|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.R589K	p.R582K	NM_152354.3	NP_689567.3					4	1809	-								Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.1745G>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	C	9.818	1.184909	0.21870	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.05447	3.44	3.28	2.17	0.27698	.	.	.	.	.	T	0.02571	0.0078	N	0.02247	-0.625	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.11329	0.006;0.006	T	0.43956	-0.9359	9	0.38643	T	0.18	.	5.4984	0.16815	0.2018:0.6857:0.0:0.1124	.	606;582	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	K	605;582	ENSP00000333595:R582K	ENSP00000333595:R582K	R	-	2	0	ZNF285	49582502	0.038000	0.19896	0.003000	0.11579	0.166000	0.22503	-1.609000	0.02066	0.660000	0.30964	0.454000	0.30748	AGA		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		5	437	0	0	0	1	0	5	437					T	44890662	C	T	44890662	3	4	124	1	0	0	0	0	1	0	0	0	17875	913	32	2	31	2	ZNF285	19	44890662	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	2419221	44890662	14238321	141	38712											
SIGLEC7	27036	broad.mit.edu	37	chr19	51645936	51645936	+	Frame_Shift_Del	DEL	A	A	-													tccttggggacccacagaccAaaaattgcaccctgagcatc							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:51645936delA	ENST00000317643.6	+	1	379	c.310delA	c.(310-312)aaafs	p.K104fs	SIGLEC7_ENST00000600577.1_Frame_Shift_Del_p.K104fs|SIGLEC7_ENST00000305628.7_Frame_Shift_Del_p.K104fs	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	104	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)		CCCACAGACCAAAAATTGCAC	0.473																																						ENST00000317643.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29						c.(310-312)aafs		sialic acid binding Ig-like lectin 7							110	107	108					19																	51645936		2203	4300	6503	SO:0001589	frameshift_variant	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51645936delA	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.310delA	19.37:g.51645936delA	ENSP00000323328:p.Lys104fs					SIGLEC7_ENST00000600577.1_Frame_Shift_Del_p.K104fs|SIGLEC7_ENST00000305628.7_Frame_Shift_Del_p.K104fs	p.K104fs	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	1	379	+		all_neural(266;0.0199)	104			Ig-like V-type.		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Frame_Shift_Del	DEL	ENST00000317643.6	37	c.310delA	CCDS12826.1																																																																																				0.473	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		7	644						7	644	---	---	---	---	-	51645936	A	-	51645936	7	5	124	1	0	1	0	1	0	0	0	0	14363	131	5	0	312	0	SIGLEC7	19	51645936	Frame_Shift_Del	DEL	A	TCGA-YH-A8SY-01A-11D-A377-08	6755274	51645936	7483047	142	38713											
FPR3	2359	broad.mit.edu	37	chr19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tctctacgtctttatgggtcGtaacttccaagaaagactga	8	9	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:52327921G>A	ENST00000339223.4	+	2	1099	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_ENST00000595991.1_Missense_Mutation_p.R307H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(919-921)cGt>cAt		formyl peptide receptor 3							130	125	127					19																	52327921		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327921G>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.920G>A	19.37:g.52327921G>A	ENSP00000341821:p.Arg307His					FPR3_ENST00000595991.1_Missense_Mutation_p.R307H	p.R307H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	1099	+			307						Missense_Mutation	SNP	ENST00000339223.4	37	c.920G>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	1.268	-0.613931	0.03690	.	.	ENSG00000187474	ENST00000339223	T	0.39592	1.07	2.34	-4.68	0.03309	.	0.818789	0.10312	N	0.689855	T	0.25158	0.0611	N	0.16266	0.395	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.15723	-1.0427	10	0.54805	T	0.06	.	12.3051	0.54898	0.2252:0.0:0.7748:0.0	.	307	P25089	FPR3_HUMAN	H	307	ENSP00000341821:R307H	ENSP00000341821:R307H	R	+	2	0	FPR3	57019733	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.232000	0.09055	-1.239000	0.02532	-1.842000	0.00583	CGT		0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		6	660	0	0	0	1	0	6	660					A	52327921	G	A	52327921	3	1	124	1	0	0	0	0	1	0	0	0	6067	1145	40	1	922	1	FPR3	19	52327921	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	681985	52327921	6801062	143	38714											
ZNF749	388567	broad.mit.edu	37	chr19	57956841	57956841	+	Frame_Shift_Del	DEL	A	A	-													catcagataattcatactggAaaaaggccttagtggagtga							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr19:57956841delA	ENST00000334181.4	+	3	2575	c.2325delA	c.(2323-2325)ggafs	p.G775fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	775					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)		TTCATACTGGAAAAAGGCCTT	0.388																																						ENST00000334181.4																			0				breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(2323-2325)ggfs		zinc finger protein 749							73	78	76					19																	57956841		2201	4297	6498	SO:0001589	frameshift_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956841delA	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.2325delA	19.37:g.57956841delA	ENSP00000333980:p.Gly775fs					AC004076.9_ENST00000596831.1_Intron	p.G775fs	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2575	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	775						Frame_Shift_Del	DEL	ENST00000334181.4	37	c.2325delA	CCDS33132.2																																																																																				0.388	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		7	566						7	566	---	---	---	---	-	57956841	A	-	57956841	7	5	124	1	0	1	0	1	0	0	0	0	18184	233	9	0	2335	0	ZNF749	19	57956841	Frame_Shift_Del	DEL	A	TCGA-YH-A8SY-01A-11D-A377-08	5628920	57956841	1172142	144	38715											
NINL	22981	broad.mit.edu	37	chr20	25442226	25442226	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	ctgcaggctctgatgttcctGattcaggcattcaagttcaa	9	10	4	2	rs200555815		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:25442226G>A	ENST00000278886.6	-	21	3701	c.3628C>T	c.(3628-3630)Cag>Tag	p.Q1210*	NINL_ENST00000422516.1_Nonsense_Mutation_p.Q861*|NINL_ENST00000464285.1_5'Flank	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1210					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						TGATGTTCCTGATTCAGGCAT	0.468																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3628-3630)Cag>Tag		ninein-like							190	161	171					20																	25442226		2203	4300	6503	SO:0001587	stop_gained	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25442226G>A		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.3628C>T	20.37:g.25442226G>A	ENSP00000278886:p.Gln1210*					NINL_ENST00000422516.1_Nonsense_Mutation_p.Q861*	p.Q1210*	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			21	3701	-			1210					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Nonsense_Mutation	SNP	ENST00000278886.6	37	c.3628C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593669	0.86953	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	.	.	.	4.69	0.163	0.14986	.	0.257192	0.31673	N	0.007250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-2.2951	7.9115	0.29793	0.0:0.2925:0.4189:0.2885	.	.	.	.	X	1210;861	.	ENSP00000278886:Q1210X	Q	-	1	0	NINL	25390226	0.990000	0.36364	0.013000	0.15412	0.104000	0.19210	0.957000	0.29215	-0.084000	0.12595	0.555000	0.69702	CAG		0.468	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		63	267	0	0	0	1	0	63	267					A	25442226	G	A	25442226	4	1	124	1	0	0	0	0	0	1	0	0	10462	1299	45	2	536	2	NINL	20	25442226	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08		25442226	37583294	145	38716											
BPIL3	128859	broad.mit.edu	37	chr20	31624301	31624301	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcaaatatgttctgatgtccGcaccagccaccacagccagc	7	15	2	1	rs145056603		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:31624301G>A	ENST00000349552.1	+	7	628	c.628G>A	c.(628-630)Gca>Aca	p.A210T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	210						extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCTGATGTCCGCACCAGCCAC	0.587													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19377	0.0		0.0	False		,,,				2504	0.0					ENST00000349552.1																			0											c.(628-630)Gca>Aca		BPI fold containing family B, member 6		A	THR/ALA	2,4404	826.0+/-416.6	0,2,2201	134	121	125		628	-0.9	0	20	dbSNP_134	125	1,8599	819.2+/-406.8	0,1,4299	yes	missense	BPIFB6	NM_174897.2	58	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	210/454	31624301	3,13003	2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31624301G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"BPI fold containing"	16504	protein-coding gene	gene with protein product		614110	"bactericidal/permeability-increasing protein-like 3"	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.628G>A	20.37:g.31624301G>A	ENSP00000344929:p.Ala210Thr						p.A210T	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			7	628	+			210						Missense_Mutation	SNP	ENST00000349552.1	37	c.628G>A	CCDS13211.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	2.632	-0.286052	0.05605	4.54E-4	1.16E-4	ENSG00000167104	ENST00000349552	T	0.04502	3.61	4.65	-0.848	0.10727	.	0.837757	0.10566	N	0.659738	T	0.01421	0.0046	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	10	0.09843	T	0.71	.	1.3326	0.02138	0.3295:0.1696:0.3472:0.1538	.	210	Q8NFQ5	BPIB6_HUMAN	T	210	ENSP00000344929:A210T	ENSP00000344929:A210T	A	+	1	0	BPIFB6	31087962	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.658000	0.05329	-0.714000	0.04975	-0.390000	0.06520	GCA		0.587	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		6	794	0	0	0	1	0	6	794					A	31624301	G	A	31624301	3	1	124	1	0	0	0	0	1	0	0	0	1497	1087	38	1	654	1	BPIL3	20	31624301	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	6182075	31624301	31401219	146	38717											
NCOA6	23054	broad.mit.edu	37	chr20	33345745	33345747	+	In_Frame_Del	DEL	TGT	TGT	-													gctgctgctgctgctgctgcTgttgttgttgttgctgctgc					rs41290900	byFrequency	TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:33345745_33345747delTGT	ENST00000374796.2	-	8	3374_3376	c.804_806delACA	c.(802-807)caacag>cag	p.268_269QQ>Q	NCOA6_ENST00000359003.2_In_Frame_Del_p.268_269QQ>Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	268	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						ctgctgctgctgttgttgttgtt	0.532																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(802-807)cag>ca		nuclear receptor coactivator 6																																				SO:0001651	inframe_deletion	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345745_33345747delTGT	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.804_806delACA	20.37:g.33345754_33345756delTGT	ENSP00000363929:p.Gln285del					NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ284del	p.QQ284del			Q14686	NCOA6_HUMAN			8	3374_3376	-			284			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	In_Frame_Del	DEL	ENST00000374796.2	37	c.804_806delACA	CCDS13241.1																																																																																				0.532	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	219						8	219	---	---	---	---	-	33345747	TGT	-	33345745	7	5	124	1	0	1	0	1	0	0	0	0	10275	1580	55	0	5421	0	NCOA6	20	33345745	In_Frame_Del	DEL	TGT	TCGA-YH-A8SY-01A-11D-A377-08	1721444	33345745	29679775	147	38718											
MC3R	4159	broad.mit.edu	37	chr20	54824819	54824819	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttccggagcctggaattgcGcaacacctttagggagattc	11	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr20:54824819G>A	ENST00000243911.2	+	1	1032	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|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)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGGAATTGCGCAACACCTTT	0.517																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(919-921)cGc>cAc		melanocortin 3 receptor							168	160	163					20																	54824819		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824819G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.920G>A	20.37:g.54824819G>A	ENSP00000243911:p.Arg307His						p.R307H	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	1032	+			344					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.920G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520625	0.64747	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000014	D	0.82917	0.5141	H	0.97440	4.005	0.51767	D	0.99993	D	0.89917	1.0	D	0.83275	0.996	D	0.89536	0.3789	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	344	P41968	MC3R_HUMAN	H	307	ENSP00000243911:R307H	ENSP00000243911:R307H	R	+	2	0	MC3R	54258226	1.000000	0.71417	0.990000	0.47175	0.182000	0.23217	9.731000	0.98807	2.362000	0.80069	0.555000	0.69702	CGC		0.517	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			5	665	0	0	0	1	0	5	665					A	54824819	G	A	54824819	3	1	124	1	0	0	0	0	1	0	0	0	9406	1087	38	1	922	1	MC3R	20	54824819	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	21479074	54824819	8200701	148	38719											
KRTAP8-1	337879	broad.mit.edu	37	chr21	32185365	32185365	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aatcagtagagagcaaatggCgagtatctcctgtagccgaa	11	8	2	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32185365C>T	ENST00000329621.4	-	1	205	c.174G>A	c.(172-174)tcG>tcA	p.S58S		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	58						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(1)|lung(4)	6						GAGCAAATGGCGAGTATCTCC	0.562																																						ENST00000329621.4																			0				central_nervous_system(1)|large_intestine(1)|lung(4)	6						c.(172-174)tcG>tcA		keratin associated protein 8-1							86	81	83					21																	32185365		2203	4300	6503	SO:0001819	synonymous_variant	0					intermediate filament		g.chr21:32185365C>T	AJ457064	CCDS13607.1	21q22.1	2006-03-13			ENSG00000183640	ENSG00000183640		"Keratin associated proteins"	18935	protein-coding gene	gene with protein product						12359730	Standard	NM_175857		Approved	KAP8.1	uc002you.3	Q8IUC2	OTTHUMG00000057771	ENST00000329621.4:c.174G>A	21.37:g.32185365C>T							p.S58S	NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN			1	205	-			58					Q3LI57	Silent	SNP	ENST00000329621.4	37	c.174G>A	CCDS13607.1																																																																																				0.562	KRTAP8-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128223.1			70	353	0	0	0	1	0	70	353					T	32185365	C	T	32185365	2	4	124	1	0	0	0	0	0	0	0	1	8603	755	27	1		1	KRTAP8-1	21	32185365	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		32185365	15944530	149	38720											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253572	32253572	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcaggggttggaaataCaggtagtttgtcgagagcaa	15	4	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:32253572C>A	ENST00000332378.4	-	1	302	c.272G>T	c.(271-273)tGt>tTt	p.C91F		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	91						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GTTGGAAATACAGGTAGTTTG	0.567																																						ENST00000332378.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(271-273)tGt>tTt		keratin associated protein 11-1							87	84	85					21																	32253572		2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253572C>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.272G>T	21.37:g.32253572C>A	ENSP00000330720:p.Cys91Phe						p.C91F	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	302	-			91					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.272G>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579810	0.46006	.	.	ENSG00000182591	ENST00000332378	T	0.03065	4.06	5.17	4.27	0.50696	.	0.222920	0.39020	N	0.001497	T	0.16128	0.0388	M	0.79258	2.445	0.37098	D	0.899749	D	0.76494	0.999	D	0.74348	0.983	T	0.00907	-1.1519	10	0.49607	T	0.09	-6.145	12.4326	0.55583	0.0:0.9123:0.0:0.0877	.	91	Q8IUC1	KR111_HUMAN	F	91	ENSP00000330720:C91F	ENSP00000330720:C91F	C	-	2	0	KRTAP11-1	31175443	1.000000	0.71417	0.996000	0.52242	0.624000	0.37722	3.372000	0.52387	2.608000	0.88229	0.650000	0.86243	TGT		0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			37	215	1	0	3.76114e-14	1	3.92707e-14	37	215					A	32253572	C	A	32253572	3	1	124	1	0	0	0	0	1	0	0	0	8547	478	17	3	223	3	KRTAP11-1	21	32253572	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	68207	32253572	15876323	150	38721											
DOPEY2	9980	broad.mit.edu	37	chr21	37603002	37603002	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atcgccaactttgccagcaaGaacatttttggagtacagct	8	10	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:37603002G>T	ENST00000399151.3	+	14	2005	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	640					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						TTGCCAGCAAGAACATTTTTG	0.547																																						ENST00000399151.3																			0				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						c.(1918-1920)aaG>aaT		dopey family member 2							65	66	65					21																	37603002		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37603002G>T	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.1920G>T	21.37:g.37603002G>T	ENSP00000382104:p.Lys640Asn						p.K640N	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN			14	2005	+			640					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.1920G>T	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977714	0.53720	.	.	ENSG00000142197	ENST00000399151	T	0.14144	2.53	5.43	4.55	0.56014	.	0.403370	0.29676	N	0.011497	T	0.24509	0.0594	M	0.63843	1.955	0.37959	D	0.932892	D;D	0.67145	0.996;0.992	D;P	0.65573	0.936;0.864	T	0.30679	-0.9970	10	0.09338	T	0.73	.	6.928	0.24426	0.296:0.0:0.704:0.0	.	640;640	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	N	640	ENSP00000382104:K640N	ENSP00000382104:K640N	K	+	3	2	DOPEY2	36524872	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.513000	0.45494	1.436000	0.47453	0.491000	0.48974	AAG		0.547	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128		59	270	1	0	7.89702e-26	1	8.32706e-26	59	270					T	37603002	G	T	37603002	3	4	124	1	0	0	0	0	1	0	0	0	4724	933	33	3	1970	3	DOPEY2	21	37603002	Missense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	5349430	37603002	10526893	151	38722											
MORC3	23515	broad.mit.edu	37	chr21	37741376	37741378	+	In_Frame_Del	DEL	TGA	TGA	-													gaaaattcagtttataaaggTgatgatgatgatgaagatgt					rs373727187		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr21:37741376_37741378delTGA	ENST00000400485.1	+	15	1786_1788	c.1710_1712delTGA	c.(1708-1713)ggtgat>ggt	p.D574del	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	574					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						TTTATAAAGGTGATGATGATGAT	0.365																																						ENST00000400485.1																			0				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						c.(1708-1713)ggt>gg		MORC family CW-type zinc finger 3																																				SO:0001651	inframe_deletion	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741376_37741378delTGA	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.1710_1712delTGA	21.37:g.37741385_37741387delTGA	ENSP00000383333:p.Asp574del					MORC3_ENST00000487909.1_3'UTR	p.GD570del	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			15	1786_1788	+			570					A8KA92|Q9UEZ2	In_Frame_Del	DEL	ENST00000400485.1	37	c.1710_1712delTGA	CCDS42924.1																																																																																				0.365	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		8	489						8	489	---	---	---	---	-	37741378	TGA	-	37741376	7	5	124	1	0	1	0	1	0	0	0	0	9744	1683	59	0	1768	0	MORC3	21	37741376	In_Frame_Del	DEL	TGA	TCGA-YH-A8SY-01A-11D-A377-08	138374	37741376	10388519	152	38723											
SLC5A1	6523	broad.mit.edu	37	chr22	32482250	32482250	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcagaatgtgagaaatattgCggtaccaaggttggctgtac	12	6	1	2	rs199702272		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chr22:32482250C>T	ENST00000266088.4	+	10	1315	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	SLC5A1_ENST00000543737.1_Silent_p.C228C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	355					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	AGAAATATTGCGGTACCAAGG	0.468																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1063-1065)tgC>tgT		solute carrier family 5 (sodium/glucose cotransporter), member 1							192	166	175					22																	32482250		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32482250C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"Solute carriers"	11036	protein-coding gene	gene with protein product	"sodium/glucose cotransporter 1"	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1065C>T	22.37:g.32482250C>T						SLC5A1_ENST00000543737.1_Silent_p.C228C	p.C355C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			10	1315	+			355					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1065C>T	CCDS13902.1																																																																																				0.468	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		5	605	0	0	0	1	0	5	605					T	32482250	C	T	32482250	2	4	124	1	0	0	0	0	0	0	0	1	14711	776	27	1		1	SLC5A1	22	32482250	Silent	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08		32482250	18822316	153	38724											
FRMPD4	9758	broad.mit.edu	37	chrX	12516909	12516909	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatgggcgagactactTcatcaagtaggttaaacaga	11	8	2	3			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:12516909T>C	ENST00000380682.1	+	2	658	c.152T>C	c.(151-153)tTc>tCc	p.F51S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	51	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				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						CGAGACTACTTCATCAAGTAG	0.488																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(151-153)tTc>tCc		FERM and PDZ domain containing 4							80	69	73					X																	12516909		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12516909T>C	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.152T>C	X.37:g.12516909T>C	ENSP00000370057:p.Phe51Ser						p.F51S	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			2	658	+			51			WW.		A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.152T>C	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981669	0.53827	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.13657	2.57	5.13	5.13	0.70059	WW/Rsp5/WWP (2);PDZ/DHR/GLGF (1);	0.281292	0.34200	N	0.004165	T	0.25865	0.0630	M	0.89287	3.02	0.42617	D	0.993335	B;B	0.18013	0.025;0.025	B;B	0.18561	0.022;0.022	T	0.10451	-1.0629	10	0.87932	D	0	.	14.3389	0.66611	0.0:0.0:0.0:1.0	.	43;51	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	51;42;40	ENSP00000370057:F51S	ENSP00000304583:F40S	F	+	2	0	FRMPD4	12426830	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.718000	0.54919	1.834000	0.53371	0.486000	0.48141	TTC		0.488	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		42	248	0	0	0	1	0	42	248					C	12516909	T	C	12516909	3	2	124	1	0	0	0	0	1	0	0	0	6086	1783	62	4	158	4	FRMPD4	23	12516909	Missense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08		12516909	142753651	154	38725											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-													accttaatattatcaccccaCcccccccaccagatgaagtg							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)cccfs	p.P135fs	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488																																						ENST00000542554.1																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P135fs*3(1)|p.P134fs*19(1)	ovary(2)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(394-396)ccfs		proline rich Gla (G-carboxyglutamic acid) 1							117	111	113					X																	37312611		2202	4300	6502	SO:0001589	frameshift_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312611delC	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.394delC	X.37:g.37312611delC	ENSP00000444278:p.Pro135fs					PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			5	666	+			135			Poly-Pro.		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Del	DEL	ENST00000542554.1	37	c.394delC	CCDS14239.1																																																																																				0.488	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		7	742						7	742	---	---	---	---	-	37312611	C	-	37312611	7	5	124	1	0	1	0	1	0	0	0	0	12652	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-YH-A8SY-01A-11D-A377-08	24795702	37312611	117957949	155	38726											
NUDT11	55190	broad.mit.edu	37	chrX	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-													ctggttgggtttgcacttcaTcctcgaggcagcctcctcga					rs78182391		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3	1		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"Nudix motif containing"	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			21	41						21	41	---	---	---	---	-	51239309	TCCTCGAGGCAGCC	-	51239296	7	5	124	1	0	1	0	1	0	0	0	0	10769	1435	50	0	501	0	NUDT11	23	51239296	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCGA-YH-A8SY-01A-11D-A377-08	13926685	51239296	104031264	156	38727											
FAM123B	139285	broad.mit.edu	37	chrX	63410676	63410676	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ggaggctgcaagatcttcatCattgtggaactcaggattct	11	8	5	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:63410676C>T	ENST00000330258.3	-	2	2763	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	831					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)									AGATCTTCATCATTGTGGAAC	0.507																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2491-2493)Gat>Aat		APC membrane recruitment protein 1							41	41	41					X																	63410676		2195	4287	6482	SO:0001583	missense	139285							g.chrX:63410676C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2491G>A	X.37:g.63410676C>T	ENSP00000329117:p.Asp831Asn					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.D831N	NM_152424.3	NP_689637.3					2	2763	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2491G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009117	0.35415	.	.	ENSG00000184675	ENST00000330258	T	0.56776	0.44	5.0	4.14	0.48551	.	.	.	.	.	T	0.33352	0.0860	N	0.14661	0.345	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.08472	-1.0720	8	.	.	.	-4.2875	11.4705	0.50266	0.0:0.9102:0.0:0.0898	.	831	Q5JTC6	F123B_HUMAN	N	831	ENSP00000329117:D831N	.	D	-	1	0	FAM123B	63327401	0.999000	0.42202	0.989000	0.46669	0.897000	0.52465	5.204000	0.65180	1.247000	0.43917	0.529000	0.55759	GAT		0.507	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		36	99	0	0	0	1	0	36	99					T	63410676	C	T	63410676	3	4	124	1	0	0	0	0	1	0	0	0	5444	826	29	2	920	2	FAM123B	23	63410676	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	12171380	63410676	91859884	157	38728											
AMOT	154796	broad.mit.edu	37	chrX	112048243	112048243	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atctcggatttcgatgtgtcGtctttggtcctcattggtag	11	8	3	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:112048243G>A	ENST00000524145.1	-	6	1782	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.R570*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*			Q4VCS5	AMOT_HUMAN	angiomotin	570					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						TCGATGTGTCGTCTTTGGTCC	0.512																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1708-1710)Cga>Tga		angiomotin							282	234	250					X																	112048243		2203	4300	6503	SO:0001587	stop_gained	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112048243G>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1708C>T	X.37:g.112048243G>A	ENSP00000429013:p.Arg570*					AMOT_ENST00000524145.1_Nonsense_Mutation_p.R570*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.R338*|AMOT_ENST00000304758.1_Nonsense_Mutation_p.R161*|AMOT_ENST00000371958.1_Nonsense_Mutation_p.R338*	p.R570*	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			5	1707	-			570					Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	ENST00000524145.1	37	c.1708C>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	g	39	7.434134	0.98282	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.96	4.17	0.49024	.	0.054811	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5027	12.9983	0.58660	0.0:0.0:0.4395:0.5605	.	.	.	.	X	161;570;338;570;338	.	ENSP00000305557:R161X	R	-	1	2	AMOT	111934899	0.999000	0.42202	0.985000	0.45067	0.996000	0.88848	2.872000	0.48467	0.623000	0.30267	0.597000	0.82753	CGA		0.512	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		167	879	0	0	0	1	0	167	879					A	112048243	G	A	112048243	4	1	124	1	0	0	0	0	0	1	0	0	582	1153	40	1	1574	1	AMOT	23	112048243	Nonsense_Mutation	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	48637567	112048243	43222317	158	38729											
NKRF	55922	broad.mit.edu	37	chrX	118725258	118725258	+	Nonsense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaccggcttgcttttTaggaggattttgacctatag	11	6	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:118725258T>A	ENST00000371527.1	-	2	782	c.130A>T	c.(130-132)Aaa>Taa	p.K44*	NKRF_ENST00000542113.1_Nonsense_Mutation_p.K59*|NKRF_ENST00000304449.5_Nonsense_Mutation_p.K44*|NKRF_ENST00000487600.1_5'UTR	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	44	Active repression domain.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCTTGCTTTTTAGGAGGATTT	0.353																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(130-132)Aaa>Taa		NFKB repressing factor							62	62	62					X																	118725258		2203	4300	6503	SO:0001587	stop_gained	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118725258T>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.130A>T	X.37:g.118725258T>A	ENSP00000360582:p.Lys44*					NKRF_ENST00000542113.1_Nonsense_Mutation_p.K59*|NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000304449.5_Nonsense_Mutation_p.K44*	p.K44*	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	782	-			44			Active repression domain.		G3V1N1|Q4VC41|Q9UJ91	Nonsense_Mutation	SNP	ENST00000371527.1	37	c.130A>T	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	38	6.702982	0.97776	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	.	.	.	5.41	5.41	0.78517	.	0.288673	0.39020	N	0.001490	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1562	12.1414	0.54000	0.0:0.0:0.0:1.0	.	.	.	.	X	44;44;59	.	ENSP00000304803:K44X	K	-	1	0	NKRF	118609286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.298000	0.59067	1.800000	0.52685	0.486000	0.48141	AAA		0.353	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		99	492	0	0	0	1	0	99	492					A	118725258	T	A	118725258	4	1	124	1	0	0	0	0	0	1	0	0	10489	1763	61	5	1946	5	NKRF	23	118725258	Nonsense_Mutation	SNP	T	TCGA-YH-A8SY-01A-11D-A377-08	6677015	118725258	36545302	159	38730											
NKAP	79576	broad.mit.edu	37	chrX	119072752	119072753	+	Frame_Shift_Del	DEL	TC	TC	-													ggagctcccaattctccaatTctctctctctcacttaatct							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:119072752_119072753delTC	ENST00000371410.3	-	2	573_574	c.407_408delGA	c.(406-408)agafs	p.R136fs	NKAP_ENST00000477789.1_5'Flank	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	136					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						ATTCTCCAATTCTCTCTCTCTC	0.322																																						ENST00000371410.3																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						c.(406-408)afs		NFKB activating protein																																				SO:0001589	frameshift_variant	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119072752_119072753delTC	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.407_408delGA	X.37:g.119072762_119072763delTC	ENSP00000360464:p.Arg136fs						p.R136fs	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN			2	573_574	-			136					Q6IPW6|Q96BQ2|Q9H638	Frame_Shift_Del	DEL	ENST00000371410.3	37	c.407_408delGA	CCDS14592.1																																																																																				0.322	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		7	871						7	871	---	---	---	---	-	119072753	TC	-	119072752	7	5	124	1	0	1	0	1	0	0	0	0	10481	1780	62	0	871	0	NKAP	23	119072752	Frame_Shift_Del	DEL	TC	TCGA-YH-A8SY-01A-11D-A377-08	347494	119072752	36197808	160	38731											
TFDP3	51270	broad.mit.edu	37	chrX	132351883	132351883	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacttggcgaccagctcGcccaccacttcctggcagga	10	16	0	1	rs369336277		TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:132351883G>A	ENST00000310125.4	-	1	493	c.405C>T	c.(403-405)ggC>ggT	p.G135G		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	135					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G135G(1)|p.G75G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CGACCAGCTCGCCCACCACTT	0.552																																						ENST00000310125.4																			2	Substitution - coding silent(2)	p.G135G(1)|p.G75G(1)	kidney(2)	breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(403-405)ggC>ggT		transcription factor Dp family, member 3							83	77	79					X																	132351883		2200	4298	6498	SO:0001819	synonymous_variant	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351883G>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.405C>T	X.37:g.132351883G>A							p.G135G	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	493	-	Acute lymphoblastic leukemia(192;0.000127)		135					Q6DK49|Q9NZ54	Silent	SNP	ENST00000310125.4	37	c.405C>T	CCDS14636.2																																																																																				0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		74	342	0	0	0	1	0	74	342					A	132351883	G	A	132351883	2	1	124	1	0	0	0	0	0	0	0	1	15851	1074	38	1		1	TFDP3	23	132351883	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	13279131	132351883	22918677	161	38732											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229	245	240					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		10	1902	0	0	0	1	0	10	1902					A	140994960	G	A	140994960	2	1	124	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-YH-A8SY-01A-11D-A377-08	8643077	140994960	14275600	162	38733											
MAMLD1	10046	broad.mit.edu	37	chrX	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-													gccactgccaccttgcagctGcagcagcagcagcagcaaca							TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	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)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	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.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	512						9	512	---	---	---	---	-	149639635	GCA	-	149639633	7	5	124	1	0	1	0	1	0	0	0	0	9249	1306	46	0	1798	0	MAMLD1	23	149639633	In_Frame_Del	DEL	GCA	TCGA-YH-A8SY-01A-11D-A377-08	8644673	149639633	5630927	163	38734											
DUSP9	1852	broad.mit.edu	37	chrX	152915638	152915638	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tggactttgagcgcagcttgCggctggaggagcgccactcg	16	11	0	1			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:152915638C>T	ENST00000342782.3	+	4	1298	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	DUSP9_ENST00000370167.4_Missense_Mutation_p.R345W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	345	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCAGCTTGCGGCTGGAGGA	0.612																																						ENST00000342782.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16						c.(1033-1035)Cgg>Tgg		dual specificity phosphatase 9							139	123	128					X																	152915638		2203	4300	6503	SO:0001583	missense	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915638C>T	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.1033C>T	X.37:g.152915638C>T	ENSP00000345853:p.Arg345Trp					DUSP9_ENST00000370167.4_Missense_Mutation_p.R345W	p.R345W			Q99956	DUS9_HUMAN			4	1298	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		345			Tyrosine-protein phosphatase.		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	c.1033C>T	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	c	13.51	2.258205	0.39896	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	T;T	0.61274	0.12;0.12	4.53	2.62	0.31277	Dual specificity phosphatase, subgroup, catalytic domain (1);	1.080270	0.07212	N	0.859447	T	0.55705	0.1937	M	0.73319	2.225	0.40260	D	0.978167	D	0.58268	0.982	B	0.41412	0.356	T	0.55192	-0.8179	10	0.66056	D	0.02	.	5.9303	0.19134	0.4195:0.3277:0.2528:0.0	.	345	Q99956	DUS9_HUMAN	W	345	ENSP00000359186:R345W;ENSP00000345853:R345W	ENSP00000345853:R345W	R	+	1	2	DUSP9	152568832	1.000000	0.71417	0.272000	0.24630	0.422000	0.31414	2.428000	0.44749	0.422000	0.26005	-0.263000	0.10527	CGG		0.612	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		7	885	0	0	0	1	0	7	885					T	152915638	C	T	152915638	3	4	124	1	0	0	0	0	1	0	0	0	4848	759	27	1	1043	1	DUSP9	23	152915638	Missense_Mutation	SNP	C	TCGA-YH-A8SY-01A-11D-A377-08	3276005	152915638	2354922	164	38735											
FLNA	2316	broad.mit.edu	37	chrX	153593084	153593084	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggcccttccaccgagAagcctgacaacagccaccag	10	16	0	2			TCGA-YH-A8SY-01A-11D-A377-08	TCGA-YH-A8SY-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dc82cb2-1730-46ca-b5e1-4dbb57bd5f75	20866917-ab2f-4c68-9874-ea8be01bd72b	g.chrX:153593084A>G	ENST00000369850.3	-	13	2068	c.1832T>C	c.(1831-1833)tTc>tCc	p.F611S	FLNA_ENST00000344736.4_Missense_Mutation_p.F611S|FLNA_ENST00000360319.4_Missense_Mutation_p.F611S|FLNA_ENST00000422373.1_Missense_Mutation_p.F611S	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	611					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)					TTCCACCGAGAAGCCTGACAA	0.642																																						ENST00000422373.1																			0				breast(6)	6						c.(1831-1833)tTc>tCc		filamin A, alpha							80	89	86					X																	153593084		2162	4231	6393	SO:0001583	missense	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593084A>G	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.1832T>C	X.37:g.153593084A>G	ENSP00000358866:p.Phe611Ser					FLNA_ENST00000344736.4_Missense_Mutation_p.F611S|FLNA_ENST00000369850.3_Missense_Mutation_p.F611S|FLNA_ENST00000360319.4_Missense_Mutation_p.F611S	p.F611S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			13	2080	-	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)		611					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1832T>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750803	0.69533	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91843	-1.86;-1.86;-2.92;-2.92	4.86	4.86	0.63082	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	D	0.96519	0.8864	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.97110	1.0;0.955	D	0.97193	0.9859	10	0.87932	D	0	.	13.6752	0.62449	1.0:0.0:0.0:0.0	.	611;611	P21333-2;P21333	.;FLNA_HUMAN	S	611;584;611;611;611	ENSP00000353467:F611S;ENSP00000416926:F611S;ENSP00000358866:F611S;ENSP00000358863:F611S	ENSP00000358863:F611S	F	-	2	0	FLNA	153246278	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	9.336000	0.96533	1.602000	0.50124	0.427000	0.28365	TTC		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			65	374	0	0	0	1	0	65	374					G	153593084	A	G	153593084	3	3	124	1	0	0	0	0	1	0	0	0	5958	246	9	4	6255	4	FLNA	23	153593084	Missense_Mutation	SNP	A	TCGA-YH-A8SY-01A-11D-A377-08	677446	153593084	1677476	165	38736											
CLCNKA	1187	broad.mit.edu	37	chr1	16353850	16353850	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcccacttctctgtccGggattactggaggggcttct	11	12	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:16353850G>A	ENST00000331433.4	+	8	720	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	CLCNKA_ENST00000375692.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	234					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)	TTCTCTGTCCGGGATTACTGG	0.637																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(700-702)cGg>cAg		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						95	99	98					1																	16353850		2203	4300	6503	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16353850G>A		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.701G>A	1.37:g.16353850G>A	ENSP00000332771:p.Arg234Gln					CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R234Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q	p.R234Q			P51800	CLCKA_HUMAN		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)	9	829	+		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)	234					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.701G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397759	0.62177	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	3.02	3.02	0.34903	Chloride channel, core (2);	0.189554	0.45606	D	0.000349	D	0.94212	0.8142	M	0.68728	2.09	0.28863	N	0.895394	B;P;B	0.39480	0.364;0.675;0.364	B;P;B	0.46026	0.342;0.501;0.342	D	0.90856	0.4735	10	0.51188	T	0.08	.	13.4842	0.61355	0.0:0.0:1.0:0.0	.	191;234;234	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	Q	234;234;191;234	ENSP00000364844:R234Q;ENSP00000410353:R234Q;ENSP00000414445:R191Q;ENSP00000332771:R234Q	ENSP00000332771:R234Q	R	+	2	0	CLCNKA	16226437	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.291000	0.65667	1.674000	0.50907	0.313000	0.20887	CGG		0.637	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			12	590	0	0	0	0.00185496	0	12	590					A	16353850	G	A	16353850	3	1	125	1	0	0	0	0	1	0	0	0	3478	1116	39	1	727	1	CLCNKA	1	16353850	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		16353850	232896771	1	38737											
ARID1A	8289	broad.mit.edu	37	chr1	27099950	27099950	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atgtggcgatgggaccacgaCagcactatccctatggaggt	13	10	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:27099950C>T	ENST00000324856.7	+	15	4200	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1277					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGGACCACGACAGCACTATCC	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"Mis, N, F, S, D"	AT rich interactive domain 1A (SWI-like)			E			"clear cell ovarian carcinoma, RCC"	ARID1A/MAST2_ENST00000361297(2)	3	Deletion - Frameshift(2)|Complex(1)	p.G1274fs*7(2)|p.M1273fs(1)	liver(3)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3829-3831)Cag>Tag		AT rich interactive domain 1A (SWI-like)							73	65	67					1																	27099950		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27099950C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3829C>T	1.37:g.27099950C>T	ENSP00000320485:p.Gln1277*					ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*|ARID1A_ENST00000540690.1_5'UTR	p.Q1277*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	15	4200	+		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)	1277					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3829C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.172493|9.172493	0.99089|0.99089	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.053822|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73938	.|0.3651	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72997	.|-0.4121	.|4	0.09843|.	T|.	0.71|.	-1.2962|-1.2962	18.2413|18.2413	0.89968|0.89968	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1277;1277;894|173	.|.	ENSP00000320485:Q1277X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26972537|26972537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.231000|7.231000	0.78106|0.78106	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CAG|ACA		0.602	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		47	62	0	0	0	0.00285205	0	47	62					T	27099950	C	T	27099950	4	4	125	1	0	0	0	0	0	1	0	0	913	479	17	2	3887	2	ARID1A	1	27099950	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	10746100	27099950	222150671	2	38738											
MAST2	23139	broad.mit.edu	37	chr1	46493452	46493452	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agctcacggactttggactgTccaaaattggcctcatgagt	10	10	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:46493452T>C	ENST00000361297.2	+	17	2252	c.1969T>C	c.(1969-1971)Tcc>Ccc	p.S657P	MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTTGGACTGTCCAAAATTGG	0.443																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(1969-1971)Tcc>Ccc		microtubule associated serine/threonine kinase 2							116	112	113					1																	46493452		1911	4145	6056	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46493452T>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.1969T>C	1.37:g.46493452T>C	ENSP00000354671:p.Ser657Pro					MAST2_ENST00000372008.1_Missense_Mutation_p.S542P|MAST2_ENST00000372009.2_Missense_Mutation_p.S587P	p.S657P	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			17	2252	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		657			Protein kinase.			Missense_Mutation	SNP	ENST00000361297.2	37	c.1969T>C	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.959572	0.92791	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.31769	1.48;1.48;1.48	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057231	0.64402	D	0.000001	T	0.63674	0.2531	M	0.90759	3.145	0.80722	D	1	D;P;D;D	0.89917	0.981;0.939;1.0;0.972	D;P;D;P	0.91635	0.972;0.798;0.999;0.835	T	0.72507	-0.4272	10	0.87932	D	0	-15.7057	15.761	0.78080	0.0:0.0:0.0:1.0	.	587;331;587;657	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	P	657;587;331;542	ENSP00000354671:S657P;ENSP00000361079:S587P;ENSP00000361078:S542P	ENSP00000354671:S657P	S	+	1	0	MAST2	46266039	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.040000	0.89188	2.190000	0.69967	0.459000	0.35465	TCC		0.443	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		5	349	0	0	0	0.00116845	0	5	349					C	46493452	T	C	46493452	3	2	125	1	0	0	0	0	1	0	0	0	9366	1667	58	4	2035	4	MAST2	1	46493452	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	19393502	46493452	202757169	3	38739											
BSND	7809	broad.mit.edu	37	chr1	55470697	55470697	+	Silent	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tctctcctttgcttgcagatCaccttcgtccctgctgactc	6	16	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:55470697C>T	ENST00000371265.4	+	2	434	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	60					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						GCTTGCAGATCACCTTCGTCC	0.577																																					Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(178-180)atC>atT		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							114	94	101					1																	55470697		2203	4300	6503	SO:0001819	synonymous_variant	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55470697C>T	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.180C>T	1.37:g.55470697C>T							p.I60I	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			2	434	+			60					Q6NT28	Silent	SNP	ENST00000371265.4	37	c.180C>T	CCDS602.1																																																																																				0.577	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		61	85	0	0	0	0.000781405	0	61	85					T	55470697	C	T	55470697	2	4	125	1	0	0	0	0	0	0	0	1	1535	816	29	2		2	BSND	1	55470697	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	8977245	55470697	193779924	4	38740											
ST6GALNAC5	81849	broad.mit.edu	37	chr1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-													ggccagaaggagcggcccccGcagcagcagcagcagcagca					rs113832855|rs373434974		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(109-114)ccg>cc		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5				633,280,2837		87,67,392,25,163,1141						-1.1	1		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77334277_77334279delGCA		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del					ST6GALNAC5_ENST00000496845.1_3'UTR	p.PQ37del	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			2	346_348	+			37					B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	c.111_113delGCA	CCDS673.1																																																																																				0.7	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		11	182						11	182	---	---	---	---	-	77334279	GCA	-	77334277	7	5	125	1	0	1	0	1	0	0	0	0	15279	1074	38	0	117	0	ST6GALNAC5	1	77334277	In_Frame_Del	DEL	GCA	TCGA-YY-A8LH-01A-11D-A36O-08	21863580	77334277	171916344	5	38741											
COL11A1	1301	broad.mit.edu	37	chr1	103427802	103427802	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gtccatctttccctgagataCcttgaggacctggatcaccc	8	14	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:103427802C>G	ENST00000370096.3	-	40	3356	c.3044G>C	c.(3043-3045)gGt>gCt	p.G1015A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1027A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1015	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)		CCCTGAGATACCTTGAGGACC	0.383																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3079-3081)gGt>gCt		collagen, type XI, alpha 1							85	87	87					1																	103427802		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103427802C>G	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.3044G>C	1.37:g.103427802C>G	ENSP00000359114:p.Gly1015Ala					COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1015A	p.G1027A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	40	3397	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1015		G -> R (in STL2).	Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3080G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822094	0.71028	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.37	5.37	0.77165	.	0.061018	0.64402	D	0.000003	D	0.99753	0.9901	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.997;0.998;0.998;0.995;0.994	D	0.97603	1.0124	10	0.59425	D	0.04	.	19.1062	0.93296	0.0:1.0:0.0:0.0	.	899;976;1027;1015;235	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1015;1027;976;235;899	ENSP00000359114:G1015A;ENSP00000351163:G1027A;ENSP00000302551:G976A;ENSP00000426533:G899A	ENSP00000302551:G976A	G	-	2	0	COL11A1	103200390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	2.509000	0.84616	0.557000	0.71058	GGT		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		98	225	0	0	0	0.000781405	0	98	225					G	103427802	C	G	103427802	3	3	125	1	0	0	0	0	1	0	0	0	3676	507	18	5	2488	5	COL11A1	1	103427802	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	26093525	103427802	145822819	6	38742											
CSDE1	7812	broad.mit.edu	37	chr1	115276409	115276409	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tacagttccttcaaaatgttCaatgctgatatcttcaaaaa	4	8	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:115276409C>A	ENST00000358528.4	-	9	1207	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.E307*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	261					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)		TCAAAATGTTCAATGCTGATA	0.403																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(919-921)Gaa>Taa		cold shock domain containing E1, RNA-binding							99	97	97					1																	115276409		2203	4300	6503	SO:0001587	stop_gained	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115276409C>A		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.781G>T	1.37:g.115276409C>A	ENSP00000351329:p.Glu261*					CSDE1_ENST00000339438.6_Nonsense_Mutation_p.E230*|CSDE1_ENST00000358528.4_Nonsense_Mutation_p.E261*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.E230*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.E276*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.E131*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.E261*	p.E307*	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1297	-	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)	261			CSD 4; truncated.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	ENST00000358528.4	37	c.919G>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	39	7.578037	0.98368	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	6.07	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-7.0899	15.2523	0.73556	0.0:0.9332:0.0:0.0668	.	.	.	.	X	230;307;261;230;131;276;261;131	.	ENSP00000261443:E230X	E	-	1	0	CSDE1	115077932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	1.584000	0.49913	0.655000	0.94253	GAA		0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		6	230	1	0	0.00198382	0.00198382	0.00809612	6	230					A	115276409	C	A	115276409	4	1	125	1	0	0	0	0	0	1	0	0	3940	835	29	3	1663	3	CSDE1	1	115276409	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	11848607	115276409	133974212	7	38743											
PSMB4	5692	broad.mit.edu	37	chr1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcaacatctctcgcattatgCgagtcaacaacagtaccatg	7	12	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					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 inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(265-267)Cga>Tga		proteasome (prosome, macropain) subunit, beta type, 4							168	169	168					1																	151372581		2203	4300	6503	SO:0001587	stop_gained	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372581C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"Proteasome (prosome, macropain) subunits"	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.265C>T	1.37:g.151372581C>T	ENSP00000290541:p.Arg89*						p.R89*	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	319	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		89					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Nonsense_Mutation	SNP	ENST00000290541.6	37	c.265C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459609	0.84317	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.34	2.32	0.28847	.	0.261003	0.36703	N	0.002445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.0211	13.7733	0.63038	0.6506:0.3494:0.0:0.0	.	.	.	.	X	89	.	ENSP00000290541:R89X	R	+	1	2	PSMB4	149639205	0.998000	0.40836	0.954000	0.39281	0.610000	0.37248	0.845000	0.27668	0.197000	0.20387	-0.314000	0.08810	CGA		0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		7	1110	0	0	0	0.000602214	0	7	1110					T	151372581	C	T	151372581	4	4	125	1	0	0	0	0	0	1	0	0	12726	760	27	1	271	1	PSMB4	1	151372581	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	36096172	151372581	97878040	8	38744											
SPRR4	163778	broad.mit.edu	37	chr1	152944390	152944392	+	In_Frame_Del	DEL	GCA	GCA	-													tcttcccagcagcagcagcgGcagcagcagcagtgcccacc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:152944390_152944392delGCA	ENST00000328051.2	+	2	73_75	c.24_26delGCA	c.(22-27)cggcag>cgg	p.Q12del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	12	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcggcagcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(22-27)cgg>cg		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944390_152944392delGCA	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.24_26delGCA	1.37:g.152944399_152944401delGCA	ENSP00000332163:p.Gln12del						p.RQ8del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	73_75	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.24_26delGCA	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		8	867						8	867	---	---	---	---	-	152944392	GCA	-	152944390	7	5	125	1	0	1	0	1	0	0	0	0	15156	1190	42	0	26	0	SPRR4	1	152944390	In_Frame_Del	DEL	GCA	TCGA-YY-A8LH-01A-11D-A36O-08	1571809	152944390	96306231	9	38745											
GATAD2B	57459	broad.mit.edu	37	chr1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtacaaggccaggcttaggcGggccccgctgaccctgtagc	14	14	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	279					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGCTTAGGCGGGCCCCGCTG	0.527																																						ENST00000368655.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(835-837)cCg>cTg		GATA zinc finger domain containing 2B							115	101	106					1																	153789912		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153789912G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.836C>T	1.37:g.153789912G>A	ENSP00000357644:p.Pro279Leu						p.P279L	NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		6	1079	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		279					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.836C>T	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284508	0.40394	.	.	ENSG00000143614	ENST00000368655	T	0.35605	1.3	5.87	5.87	0.94306	.	0.054498	0.85682	D	0.000000	T	0.19248	0.0462	L	0.38175	1.15	0.80722	D	1	D	0.53619	0.961	B	0.36989	0.238	T	0.02126	-1.1209	10	0.40728	T	0.16	-4.5218	19.3531	0.94398	0.0:0.0:1.0:0.0	.	279	Q8WXI9	P66B_HUMAN	L	279	ENSP00000357644:P279L	ENSP00000357644:P279L	P	-	2	0	GATAD2B	152056536	1.000000	0.71417	0.931000	0.37212	0.149000	0.21700	6.016000	0.70798	2.941000	0.99782	0.655000	0.94253	CCG		0.527	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		102	282	0	0	0	0.000781405	0	102	282					A	153789912	G	A	153789912	3	1	125	1	0	0	0	0	1	0	0	0	6289	1116	39	1	969	1	GATAD2B	1	153789912	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	845522	153789912	95460709	10	38746											
ADAR	103	broad.mit.edu	37	chr1	154569625	154569625	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	atcagaagccatggagttggTcgcctccccatgcagggcct	12	13	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:154569625T>C	ENST00000368474.4	-	5	2252	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	685					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)		ATGGAGTTGGTCGCCTCCCCA	0.522																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(2053-2055)Acc>Gcc		adenosine deaminase, RNA-specific							67	65	66					1																	154569625		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154569625T>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2053A>G	1.37:g.154569625T>C	ENSP00000357459:p.Thr685Ala					ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	p.T685A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	5	2252	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		685					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.2053A>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.14022	2.74;2.75;2.54;2.76	5.43	-3.95	0.04118	.	0.826008	0.10923	N	0.619176	T	0.01222	0.0040	N	0.08118	0	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	0.47837	-0.9086	10	0.06625	T	0.88	-5.3793	9.0032	0.36094	0.1254:0.5779:0.0:0.2967	.	685;685;685	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	728;685;390;680	ENSP00000292205:T728A;ENSP00000357459:T685A;ENSP00000357456:T390A;ENSP00000431794:T680A	ENSP00000292205:T728A	T	-	1	0	ADAR	152836249	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	0.036000	0.13819	-0.609000	0.05724	0.533000	0.62120	ACC		0.522	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		6	326	0	0	0	0.00198382	0	6	326					C	154569625	T	C	154569625	3	2	125	1	0	0	0	0	1	0	0	0	281	1667	58	4	1671	4	ADAR	1	154569625	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	779713	154569625	94680996	11	38747											
INSRR	3645	broad.mit.edu	37	chr1	156824033	156824033	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtggccctccaccaCgctgcagttctccagctgac	10	17	1	1	rs558428940		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156824033C>T	ENST00000368195.3	-	2	544	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	50					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)					CCCTCCACCACGCTGCAGTTC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		20162	0.0		0.0	False		,,,				2504	0.001					ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(148-150)Gtg>Atg		insulin receptor-related receptor							49	50	49					1																	156824033		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156824033C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.148G>A	1.37:g.156824033C>T	ENSP00000357178:p.Val50Met					NTRK1_ENST00000392302.2_Intron	p.V50M	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			2	544	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		50					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.148G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450024	0.63290	.	.	ENSG00000027644	ENST00000368195	D	0.82081	-1.57	5.06	4.15	0.48705	EGF receptor, L domain (1);	0.000000	0.41294	D	0.000916	D	0.87939	0.6304	.	.	.	0.48341	D	0.999632	D	0.89917	1.0	D	0.81914	0.995	D	0.89318	0.3638	9	0.72032	D	0.01	.	11.4951	0.50404	0.0:0.9113:0.0:0.0887	.	50	P14616	INSRR_HUMAN	M	50	ENSP00000357178:V50M	ENSP00000357178:V50M	V	-	1	0	INSRR	155090657	0.646000	0.27295	0.893000	0.35052	0.832000	0.47134	1.287000	0.33284	1.146000	0.42352	-0.252000	0.11476	GTG		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		69	110	0	0	0	0.000781405	0	69	110					T	156824033	C	T	156824033	3	4	125	1	0	0	0	0	1	0	0	0	7804	536	19	1	3828	1	INSRR	1	156824033	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2254408	156824033	92426588	12	38748											
F5	2153	broad.mit.edu	37	chr1	169519117	169519117	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	ccagaggcgatgtctctcatGatgtccacgtcactgtagta	10	11	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:169519117G>C	ENST00000367797.3	-	10	1734	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	F5_ENST00000367796.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	511	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTCTCTCATGATGTCCACGT	0.433																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(1531-1533)atC>atG		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						210	187	195					1																	169519117		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169519117G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1533C>G	1.37:g.169519117G>C	ENSP00000356771:p.Ile511Met					F5_ENST00000367797.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR	p.I511M			P12259	FA5_HUMAN			10	1734	-	all_hematologic(923;0.208)		511			F5/8 type A 2.|Plastocyanin-like 3.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.1533C>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049094	0.19827	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98602	-5.02;-5.02	5.71	0.262	0.15597	Cupredoxin (2);	0.596635	0.18720	N	0.133041	D	0.85600	0.5734	N	0.11064	0.09	0.25005	N	0.991444	B	0.26195	0.144	B	0.18263	0.021	T	0.74819	-0.3535	9	0.15066	T	0.55	-0.6017	7.1569	0.25643	0.2659:0.4684:0.2657:0.0	.	511	P12259	FA5_HUMAN	M	511	ENSP00000356771:I511M;ENSP00000356770:I511M	ENSP00000356770:I511M	I	-	3	3	F5	167785741	0.072000	0.21174	0.226000	0.23910	0.924000	0.55760	-0.367000	0.07553	0.060000	0.16281	-0.175000	0.13238	ATC		0.433	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	477	0	0	0	0.000274275	0	8	477					C	169519117	G	C	169519117	3	2	125	1	0	0	0	0	1	0	0	0	5366	1280	45	5	5205	5	F5	1	169519117	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	12695084	169519117	79731504	13	38749											
MRPS14	63931	broad.mit.edu	37	chr1	174983906	174983906	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgcttcacaccacgcggacGggacgtcataacacaccgat	9	16	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:174983906G>A	ENST00000476371.1	-	3	302	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14									p.R96S(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CCACGCGGACGGGACGTCATA	0.522																																						ENST00000476371.1																			1	Substitution - Missense(1)	p.R96S(1)	lung(1)	large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						c.(286-288)Cgt>Tgt		mitochondrial ribosomal protein S14							155	143	147					1																	174983906		2203	4300	6503	SO:0001583	missense	63931				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr1:174983906G>A	AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"Mitochondrial ribosomal proteins / small subunits"	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.286C>T	1.37:g.174983906G>A	ENSP00000420714:p.Arg96Cys					MRPS14_ENST00000498253.1_5'UTR	p.R96C	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN			3	302	-			96						Missense_Mutation	SNP	ENST00000476371.1	37	c.286C>T	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899841	0.91962	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94083	0.7346	9	0.87932	D	0	-16.0916	20.6593	0.99626	0.0:0.0:1.0:0.0	.	96	O60783	RT14_HUMAN	C	96	.	ENSP00000420714:R96C	R	-	1	0	MRPS14	173250529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.365000	0.73090	2.885000	0.99019	0.655000	0.94253	CGT		0.522	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	NM_022100		9	537	0	0	0	0.000274275	0	9	537					A	174983906	G	A	174983906	3	1	125	1	0	0	0	0	1	0	0	0	9865	1116	39	1	104	1	MRPS14	1	174983906	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	5464789	174983906	74266715	14	38750											
CFHR1	3078	broad.mit.edu	37	chr1	196797211	196797211	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tctactcagacacttcctgtGtgaatccgcccacagtacaa	6	14	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:196797211G>T	ENST00000320493.5	+	4	530	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	CFHR1_ENST00000367424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	148	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CACTTCCTGTGTGAATCCGCC	0.383																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(442-444)Gtg>Ttg		complement factor H-related 1							55	73	67					1																	196797211		1827	4114	5941	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196797211G>T	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.442G>T	1.37:g.196797211G>T	ENSP00000314299:p.Val148Leu					CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Intron|CFHR2_ENST00000367421.3_Intron	p.V148L	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			4	530	+			148			Sushi 3.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.442G>T	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	6.008	0.369878	0.11352	.	.	ENSG00000244414	ENST00000320493	T	0.64260	-0.09	2.89	1.95	0.26073	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55561	0.1928	L	0.37466	1.105	0.80722	D	1	B;D	0.54047	0.387;0.964	B;P	0.52554	0.326;0.702	T	0.47995	-0.9073	9	0.28530	T	0.3	.	6.0102	0.19571	0.1541:0.0:0.8459:0.0	.	148;1049	Q03591;A8K5T0	FHR1_HUMAN;.	L	148	ENSP00000314299:V148L	ENSP00000314299:V148L	V	+	1	0	CFHR1	195063834	0.321000	0.24625	0.995000	0.50966	0.022000	0.10575	0.327000	0.19663	0.520000	0.28426	0.398000	0.26397	GTG		0.383	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		8	578	1	0	2.17888e-05	0.000442599	9.97001e-05	8	578					T	196797211	G	T	196797211	3	4	125	1	0	0	0	0	1	0	0	0	3293	1377	48	3	456	3	CFHR1	1	196797211	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	21813305	196797211	52453410	15	38751											
CR1	1378	broad.mit.edu	37	chr1	207785308	207785308	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atcctgtgatgacttcctggGccaactccctcatggccgtg	10	14	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207785308G>A	ENST00000367049.4	+	39	6497	c.6497G>A	c.(6496-6498)gGc>gAc	p.G2166D	CR1_ENST00000367051.1_Missense_Mutation_p.G1716D|CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1716					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACTTCCTGGGCCAACTCCCT	0.488																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6496-6498)gGc>gAc		complement component (3b/4b) receptor 1 (Knops blood group)							273	262	266					1																	207785308		1936	4132	6068	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207785308G>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6497G>A	1.37:g.207785308G>A	ENSP00000356016:p.Gly2166Asp					CR1_ENST00000367052.1_Missense_Mutation_p.G1716D|CR1_ENST00000367051.1_Missense_Mutation_p.G1716D|CR1_ENST00000400960.2_Missense_Mutation_p.G1716D|CR1_ENST00000367053.1_Missense_Mutation_p.G1716D	p.G2166D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			39	6497	+			1716					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.6497G>A	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.958684	0.00465	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	3.21	-1.18	0.09617	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.16300	0.0392	L	0.31120	0.905	0.09310	N	1	B;B	0.28713	0.002;0.22	B;B	0.32762	0.006;0.152	T	0.36696	-0.9737	9	0.20519	T	0.43	.	6.8921	0.24234	0.7728:0.0:0.2272:0.0	.	1716;2166	P17927;E9PDY4	CR1_HUMAN;.	D	1716;1716;1716;1716;2166	ENSP00000356019:G1716D;ENSP00000356018:G1716D;ENSP00000356020:G1716D;ENSP00000383744:G1716D;ENSP00000356016:G2166D	ENSP00000356016:G2166D	G	+	2	0	CR1	205851931	0.000000	0.05858	0.000000	0.03702	0.600000	0.36913	0.102000	0.15272	-0.240000	0.09696	0.511000	0.50034	GGC		0.488	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		9	1373	0	0	0	0.00116845	0	9	1373					A	207785308	G	A	207785308	3	1	125	1	0	0	0	0	1	0	0	0	3849	1203	42	2	6651	2	CR1	1	207785308	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	10988097	207785308	41465313	16	38752											
CR1	1378	broad.mit.edu	37	chr1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	atagcagtgttccagtgtgtGaacgtgagtagaaagaacta	12	5	0	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.E2220*(6)|p.E1775*(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTGTGTGAACGTGAGTA	0.408																																						ENST00000367049.4																			12	Substitution - Nonsense(12)	p.E2220*(6)|p.E1775*(6)	kidney(8)|endometrium(4)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6658-6660)Gaa>Taa		complement component (3b/4b) receptor 1 (Knops blood group)							131	122	125					1																	207787831		1887	4127	6014	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787831G>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6658G>T	1.37:g.207787831G>T	ENSP00000356016:p.Glu2220*					CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*	p.E2220*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6658	+			1770					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6658G>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	45	12.061806	0.99632	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.9543	0.58418	0.0:0.0:1.0:0.0	.	.	.	.	X	1770;1770;1770;1770;2220	.	ENSP00000356016:E2220X	E	+	1	0	CR1	205854454	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	2.536000	0.45693	2.316000	0.78162	0.436000	0.28706	GAA		0.408	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		10	310	1	0	1.3612e-06	0.000308642	6.51037e-06	10	310					T	207787831	G	T	207787831	4	4	125	1	0	0	0	0	0	1	0	0	3849	1291	45	3	6816	3	CR1	1	207787831	Nonsense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	2523	207787831	41462790	17	38753											
INTS7	25896	broad.mit.edu	37	chr1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-													accgtgtgtaggcattgcgtTgctgctgctgctgtaatggc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q	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	954	Gln-rich.				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)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	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.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		9	1002						9	1002	---	---	---	---	-	212115193	TGC	-	212115191	7	5	125	1	0	1	0	1	0	0	0	0	7813	1812	63	0	28	0	INTS7	1	212115191	In_Frame_Del	DEL	TGC	TCGA-YY-A8LH-01A-11D-A36O-08	4327360	212115191	37135430	18	38754											
ANGEL2	90806	broad.mit.edu	37	chr1	213178772	213178772	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	catcaggtttccttcctgtcCgcatcttatattcacagtga	6	12	3	1	rs373606563		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213178772C>A	ENST00000366962.3	-	5	891	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L|ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	246								p.R246L(1)		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)		CCTTCCTGTCCGCATCTTATA	0.363																																						ENST00000366962.3																			1	Substitution - Missense(1)	p.R246L(1)	lung(1)	central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(736-738)cGg>cTg		angel homolog 2 (Drosophila)							96	102	100					1																	213178772		2195	4299	6494	SO:0001583	missense	90806							g.chr1:213178772C>A	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.737G>T	1.37:g.213178772C>A	ENSP00000355929:p.Arg246Leu					ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L	p.R246L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	5	891	-			246					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.737G>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606850	0.87157	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95622	-3.76;-3.16;-3.16;-3.76;-3.16	5.45	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.98137	0.9385	M	0.93420	3.415	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.77557	0.959;0.99	D	0.99007	1.0813	10	0.87932	D	0	-10.8417	13.6511	0.62312	0.0:0.9244:0.0:0.0756	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	L	246;77;77;120;77	ENSP00000355929:R246L;ENSP00000353696:R77L;ENSP00000443193:R77L;ENSP00000446124:R120L;ENSP00000438141:R77L	ENSP00000353696:R77L	R	-	2	0	ANGEL2	211245395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.604000	0.67626	1.398000	0.46701	0.650000	0.86243	CGG		0.363	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		9	586	1	0	0.00010058	0.00136819	0.000450479	9	586					A	213178772	C	A	213178772	3	1	125	1	0	0	0	0	1	0	0	0	609	652	23	3	917	3	ANGEL2	1	213178772	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1063581	213178772	36071849	19	38755											
RPS6KC1	26750	broad.mit.edu	37	chr1	213415604	213415604	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	1	0	0	0	0	0	0	gagagggaattgtgtgccgcGatttgaacccaaacaacatc	11	9	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213415604G>T	ENST00000366960.3	+	11	2935	c.2785G>T	c.(2785-2787)Gat>Tat	p.D929Y	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	929	Protein kinase 2. {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)		TGTGTGCCGCGATTTGAACCC	0.438																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(2785-2787)Gat>Tat		ribosomal protein S6 kinase, 52kDa, polypeptide 1							88	92	90					1																	213415604		2192	4293	6485	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415604G>T	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.2785G>T	1.37:g.213415604G>T	ENSP00000355927:p.Asp929Tyr					RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D632Y|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D717Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D917Y	p.D929Y	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2935	+			929			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2785G>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653057	0.67472	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.098052	0.64402	D	0.000002	D	0.98191	0.9402	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	-14.4772	19.9598	0.97242	0.0:0.0:1.0:0.0	.	717;929;917	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	Y	717;929;917;632	ENSP00000442306:D717Y;ENSP00000355927:D929Y;ENSP00000355926:D917Y;ENSP00000439282:D632Y	ENSP00000355926:D917Y	D	+	1	0	RPS6KC1	211482227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.716000	0.92895	0.655000	0.94253	GAT		0.438	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		11	877	1	0	1.58986e-06	0.000673444	7.56976e-06	11	877					T	213415604	G	T	213415604	3	4	125	1	0	0	0	0	1	0	0	0	13708	1058	37	3	2827	3	RPS6KC1	1	213415604	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	236832	213415604	35835017	20	38756											
PTPN14	5784	broad.mit.edu	37	chr1	214549710	214549710	+	Frame_Shift_Del	DEL	T	T	-													tgctgaaaatgccattcgccTttttctttggaatttgctca							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:214549710delT	ENST00000366956.5	-	15	2953	c.2759delA	c.(2758-2760)aagfs	p.K920fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	920	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)		GCCATTCGCCTTTTTCTTTGG	0.458																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2758-2760)agfs		protein tyrosine phosphatase, non-receptor type 14							168	161	164					1																	214549710		2203	4300	6503	SO:0001589	frameshift_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214549710delT	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.2759delA	1.37:g.214549710delT	ENSP00000355923:p.Lys920fs					PTPN14_ENST00000543945.1_3'UTR	p.K920fs	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	15	2953	-			920			Tyrosine-protein phosphatase.		Q5VSI0	Frame_Shift_Del	DEL	ENST00000366956.5	37	c.2759delA	CCDS1514.1																																																																																				0.458	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	948						7	948	---	---	---	---	-	214549710	T	-	214549710	7	5	125	1	0	1	0	1	0	0	0	0	12831	1609	56	0	824	0	PTPN14	1	214549710	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08	1134106	214549710	34700911	21	38757											
KCTD3	51133	broad.mit.edu	37	chr1	215747170	215747171	+	Frame_Shift_Ins	INS	-	-	T													cttatgtggattccagattcINSttttttttccaggtatgtct							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:215747170_215747171insT	ENST00000259154.4	+	2	419_420	c.125_126insT	c.(124-129)tcttttfs	p.SF42fs		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	42	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		ATTCCAGATTCTTTTTTTTCCA	0.228																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(124-126)tttfs		potassium channel tetramerization domain containing 3																																				SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215747170_215747171insT	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.133dupT	1.37:g.215747178_215747178dupT	ENSP00000259154:p.Ser42fs						p.F42fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	2	419_420	+			42			BTB.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Ins	INS	ENST00000259154.4	37	c.125_126insT	CCDS1515.1																																																																																				0.228	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		11	1200						11	1200	---	---	---	---	T	215747171	-	T	215747170	7	5	125	1	0	1	1	0	0	0	0	0	8140	913	32	0	131	0	KCTD3	1	215747170	Frame_Shift_Ins	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	1197460	215747170	33503451	22	38758											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaattccccttcttggcGcatagatcacaaggaattga	7	10	2	2	rs151225064	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					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)	p.A469V(1)		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)		CCTTCTTGGCGCATAGATCAC	0.493																																						ENST00000358951.2																			1	Substitution - Missense(1)	p.A469V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(1405-1407)gCg>gTg		RAB3 GTPase activating protein subunit 2 (non-catalytic)		G	VAL/ALA	0,4406		0,0,2203	137	134	135		1406	5.7	0.9	1	dbSNP_134	135	2,8598	2.2+/-6.3	0,2,4298	no	missense	RAB3GAP2	NM_012414.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	469/1394	220364491	2,13004	2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220364491G>A	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.1406C>T	1.37:g.220364491G>A	ENSP00000351832:p.Ala469Val						p.A469V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	14	1522	-			469					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.1406C>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	RAB3GAP2	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG		0.493	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		6	611	0	0	0	0.00198382	0	6	611					A	220364491	G	A	220364491	3	1	125	1	0	0	0	0	1	0	0	0	12986	1087	38	1	2863	1	RAB3GAP2	1	220364491	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	4617321	220364491	28886130	23	38759											
TRIM67	440730	broad.mit.edu	37	chr1	231339749	231339749	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgacggtgccgggggAcagttccgggtgaggccttg	19	10	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:231339749A>G	ENST00000366653.5	+	6	1671	c.1671A>G	c.(1669-1671)ggA>ggG	p.G557G	TRIM67_ENST00000444294.3_Silent_p.G555G|TRIM67_ENST00000449018.3_Silent_p.G495G|TRIM67_ENST00000366652.2_Silent_p.G557G			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	557	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCCGGGGGACAGTTCCGGG	0.637																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1663-1665)ggA>ggG		tripartite motif containing 67							54	69	64					1																	231339749		2035	4177	6212	SO:0001819	synonymous_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231339749A>G	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1671A>G	1.37:g.231339749A>G						TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000449018.3_Silent_p.G495G|TRIM67_ENST00000366653.5_Silent_p.G557G	p.G555G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			6	2523	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	557			Fibronectin type-III.		Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	c.1665A>G	CCDS44333.1																																																																																				0.637	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		37	198	0	0	0	0.000814825	0	37	198					G	231339749	A	G	231339749	2	3	125	1	0	0	0	0	0	0	0	1	16593	262	10	4		4	TRIM67	1	231339749	Silent	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	10975258	231339749	17910872	24	38760											
KIAA1383	54627	broad.mit.edu	37	chr1	232941470	232941470	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatccgcttcggtcgcgGcaagtcctgcctcttccgcc	10	17	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:232941470G>A	ENST00000418460.1	+	1	828	c.701G>A	c.(700-702)gGc>gAc	p.G234D		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	92					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)										TTCGGTCGCGGCAAGTCCTGC	0.716																																						ENST00000418460.1																			0											c.(700-702)gGc>gAc		microtubule-associated protein 10							8	11	10					1																	232941470		1973	4119	6092	SO:0001583	missense	54627							g.chr1:232941470G>A	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.701G>A	1.37:g.232941470G>A	ENSP00000403208:p.Gly234Asp						p.G234D	NM_019090.2	NP_061963.2					1	828	+								A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	c.701G>A	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064286	0.93898	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.25	4.34	0.51931	.	0.000000	0.64402	U	0.000015	T	0.78477	0.4289	M	0.77103	2.36	0.49051	D	0.999746	D	0.89917	1.0	D	0.76575	0.988	T	0.81747	-0.0791	9	0.87932	D	0	-13.0448	13.9888	0.64353	0.0733:0.0:0.9267:0.0	.	92	Q9P2G4	K1383_HUMAN	D	234	.	ENSP00000403208:G234D	G	+	2	0	KIAA1383	231008093	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.751000	0.74893	1.341000	0.45600	0.555000	0.69702	GGC		0.716	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		4	170	0	0	0	0.00116845	0	4	170					A	232941470	G	A	232941470	3	1	125	1	0	0	0	0	1	0	0	0	8258	1203	42	2	703	2	KIAA1383	1	232941470	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1601721	232941470	16309151	25	38761											
C1orf31	388753	broad.mit.edu	37	chr1	234519507	234519507	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agaagagactacttaaaattCaaagaaaaatttgaagcagg	8	4	1	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:234519507C>A	ENST00000366613.1	+	3	357	c.321C>A	c.(319-321)ttC>ttA	p.F107L	COA6_ENST00000366615.4_Missense_Mutation_p.F137L|COA6_ENST00000366612.1_Missense_Mutation_p.F61L	NM_001012985.2	NP_001013003.1	Q5JTJ3	COA6_HUMAN	cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)	107						mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|poly(A) RNA binding (GO:0044822)										ACTTAAAATTCAAAGAAAAAT	0.303																																						ENST00000366612.1																			0											c.(181-183)ttC>ttA		cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)							41	45	44					1																	234519507		2202	4298	6500	SO:0001583	missense	388753							g.chr1:234519507C>A		CCDS31059.1, CCDS55690.1	1q42.2	2012-10-15	2012-10-15	2012-10-15	ENSG00000168275	ENSG00000168275		"Mitochondrial respiratory chain complex assembly factors"	18025	protein-coding gene	gene with protein product		614772	"chromosome 1 open reading frame 31"	C1orf31		22984289	Standard	NM_001012985		Approved		uc001hwc.3	Q5JTJ3	OTTHUMG00000037945	ENST00000366613.1:c.321C>A	1.37:g.234519507C>A	ENSP00000355572:p.Phe107Leu					COA6_ENST00000366615.4_Missense_Mutation_p.F137L|COA6_ENST00000366613.1_Missense_Mutation_p.F107L	p.F61L							2	728	+								Q5JTJ2|Q5JTJ4|Q8TA88	Missense_Mutation	SNP	ENST00000366613.1	37	c.183C>A	CCDS31059.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895545	0.72639	.	.	ENSG00000168275	ENST00000366615;ENST00000424237;ENST00000366613;ENST00000366612	D;D;D	0.86097	-2.07;-2.07;-2.07	5.78	2.92	0.33932	.	0.063954	0.64402	D	0.000005	D	0.89174	0.6640	M	0.76170	2.325	0.35379	D	0.7897	D	0.67145	0.996	P	0.62298	0.9	D	0.89736	0.3930	10	0.48119	T	0.1	.	8.8568	0.35234	0.0:0.6461:0.0:0.3539	.	107	Q5JTJ3	CA031_HUMAN	L	137;138;107;61	ENSP00000355574:F137L;ENSP00000355572:F107L;ENSP00000355571:F61L	ENSP00000355571:F61L	F	+	3	2	C1orf31	232586130	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	0.799000	0.27028	0.462000	0.27095	-0.150000	0.13652	TTC		0.303	COA6-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092613.1	NM_001012985		11	592	1	0	0.000978159	0.000978159	0.00411918	11	592					A	234519507	C	A	234519507	3	1	125	1	0	0	0	0	1	0	0	0	2044	825	29	3	331	3	C1orf31	1	234519507	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1578037	234519507	14731114	26	38762											
MAP4K3	8491	broad.mit.edu	37	chr2	39492429	39492429	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ctccacataggtatttatggCccgtgtaaggatttcttact	8	9	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:39492429C>T	ENST00000263881.3	-	28	2375	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	684	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTATTTATGGCCCGTGTAAGG	0.313																																						ENST00000263881.3																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2050-2052)gGc>gAc		mitogen-activated protein kinase kinase kinase kinase 3							111	123	119					2																	39492429		2203	4295	6498	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39492429C>T	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.2051G>A	2.37:g.39492429C>T	ENSP00000263881:p.Gly684Asp					MAP4K3_ENST00000437545.1_Missense_Mutation_p.G600D|MAP4K3_ENST00000536018.1_Missense_Mutation_p.G237D|MAP4K3_ENST00000341681.5_Missense_Mutation_p.G663D	p.G684D	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN			28	2375	-		all_hematologic(82;0.211)	684			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.2051G>A	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342466	0.61073	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	5.05	5.05	0.67936	Citron-like (3);	0.052839	0.85682	D	0.000000	T	0.21801	0.0525	L	0.58810	1.83	0.80722	D	1	P;D	0.63880	0.571;0.993	P;D	0.68192	0.453;0.956	T	0.00154	-1.1981	10	0.41790	T	0.15	.	18.5768	0.91158	0.0:1.0:0.0:0.0	.	663;684	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	D	684;600;663;237	ENSP00000263881:G684D;ENSP00000416958:G600D;ENSP00000345434:G663D;ENSP00000440580:G237D	ENSP00000263881:G684D	G	-	2	0	MAP4K3	39345933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.493000	0.81493	2.615000	0.88500	0.591000	0.81541	GGC		0.313	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		7	1206	0	0	0	0.000602214	0	7	1206					T	39492429	C	T	39492429	3	4	125	1	0	0	0	0	1	0	0	0	9302	739	26	2	661	2	MAP4K3	2	39492429	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		39492429	203706944	27	38763											
VAX2	25806	broad.mit.edu	37	chr2	71148347	71148347	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gcctggagatggagttccagCgctgccagtatgtggtgggc	17	9	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:71148347C>T	ENST00000234392.2	+	2	399	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	123					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R123S(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GGAGTTCCAGCGCTGCCAGTA	0.637																																						ENST00000234392.2																			1	Substitution - Missense(1)	p.R123S(1)	lung(1)	central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(367-369)Cgc>Tgc		ventral anterior homeobox 2							43	42	42					2																	71148347		2203	4300	6503	SO:0001583	missense	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71148347C>T	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.367C>T	2.37:g.71148347C>T	ENSP00000234392:p.Arg123Cys						p.R123C	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN			2	399	+			123					Q53Y33	Missense_Mutation	SNP	ENST00000234392.2	37	c.367C>T	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967070	0.74131	.	.	ENSG00000116035	ENST00000234392	D	0.96365	-3.99	5.43	4.47	0.54385	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.059173	0.64402	D	0.000005	D	0.96632	0.8901	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.96374	0.9276	10	0.72032	D	0.01	-14.5215	12.2143	0.54398	0.2453:0.7547:0.0:0.0	.	123	Q9UIW0	VAX2_HUMAN	C	123	ENSP00000234392:R123C	ENSP00000234392:R123C	R	+	1	0	VAX2	71001855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.230000	0.42999	2.547000	0.85894	0.655000	0.94253	CGC		0.637	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			25	240	0	0	0	0.000878237	0	25	240					T	71148347	C	T	71148347	3	4	125	1	0	0	0	0	1	0	0	0	17189	768	27	1	373	1	VAX2	2	71148347	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	31655918	71148347	172051026	28	38764											
GPAT2	150763	broad.mit.edu	37	chr2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcgagctttgggtccGcacactctggaaagaagaga	14	8	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					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						CTTTGGGTCCGCACACTCTGG	0.557																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2221-2223)gCg>gTg		glycerol-3-phosphate acyltransferase 2, mitochondrial							127	130	129					2																	96688465		1940	4129	6069	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688465G>A	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.2222C>T	2.37:g.96688465G>A	ENSP00000389395:p.Ala741Val					GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W	p.A741V			Q6NUI2	GPAT2_HUMAN			22	2681	-			741					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2222C>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.68|11.68	1.709764|1.709764	0.30322|0.30322	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	T;T;T|T	0.79352|0.78924	-1.26;-1.26;-0.28|-1.22	4.91|4.91	-4.54|-4.54	0.03452|0.03452	.|.	.|.	.|.	.|.	.|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.13145|0.02656	0.007;0.001;0.001;0.006|0.0	B;B;B;B|B	0.08055|0.01281	0.003;0.001;0.001;0.003|0.0	T|T	0.60182|0.60182	-0.7313|-0.7313	9|9	0.06757|0.66056	T|D	0.87|0.02	-15.4873|-15.4873	13.7313|13.7313	0.62789|0.62789	0.2194:0.0:0.7806:0.0|0.2194:0.0:0.7806:0.0	.|.	670;747;741;670|657	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9|Q6NUI2-3	.;.;GPAT2_HUMAN;.|.	V|W	741;741;670|657	ENSP00000352547:A741V;ENSP00000389395:A741V;ENSP00000393770:A670V|ENSP00000366341:R657W	ENSP00000352547:A741V|ENSP00000366341:R657W	A|R	-|-	2|1	0|2	GPAT2|GPAT2	96052192|96052192	0.005000|0.005000	0.15991|0.15991	0.276000|0.276000	0.24689|0.24689	0.761000|0.761000	0.43186|0.43186	-0.030000|-0.030000	0.12308|0.12308	-0.818000|-0.818000	0.04329|0.04329	-1.269000|-1.269000	0.01422|0.01422	GCG|CGG		0.557	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	583	0	0	0	0.00116845	0	6	583					A	96688465	G	A	96688465	3	1	125	1	0	0	0	0	1	0	0	0	6618	1087	38	1	173	1	GPAT2	2	96688465	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	25540118	96688465	146510908	29	38765											
SEMA4C	54910	broad.mit.edu	37	chr2	97527586	97527586	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atacttcatgcagtcggccaCgggcagctgcaccagctgag	12	13	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97527586C>T	ENST00000305476.5	-	13	1621	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	497	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CAGTCGGCCACGGGCAGCTGC	0.682																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(1489-1491)Gtg>Atg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							20	19	19					2																	97527586		2201	4298	6499	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97527586C>T	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1489G>A	2.37:g.97527586C>T	ENSP00000306844:p.Val497Met						p.V497M	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			13	1621	-			497			Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.1489G>A	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906697	0.33628	.	.	ENSG00000168758	ENST00000305476	T	0.36340	1.26	4.93	1.01	0.19927	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.261632	0.33075	N	0.005317	T	0.22085	0.0532	L	0.28649	0.875	0.20489	N	0.999892	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.14868	-1.0457	10	0.52906	T	0.07	.	5.9613	0.19301	0.2318:0.4117:0.3565:0.0	.	497;207	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	M	497	ENSP00000306844:V497M	ENSP00000306844:V497M	V	-	1	0	SEMA4C	96891313	1.000000	0.71417	0.960000	0.40013	0.749000	0.42624	0.770000	0.26618	0.274000	0.22072	-0.232000	0.12228	GTG		0.682	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		7	118	0	0	0	0.000157383	0	7	118					T	97527586	C	T	97527586	3	4	125	1	0	0	0	0	1	0	0	0	14083	536	19	1	1024	1	SEMA4C	2	97527586	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	839121	97527586	145671787	30	38766											
TTN	7273	broad.mit.edu	37	chr2	179433869	179433869	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	actgcaaccttcttggagctGatcgattttccaagaattct	7	10	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179433869G>T	ENST00000591111.1	-	276	72291	c.72067C>A	c.(72067-72069)Cag>Aag	p.Q24023K	TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q25664K|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24023	Fibronectin type-III 74. {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)			TCTTGGAGCTGATCGATTTTC	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76990-76992)Cag>Aag		titin							191	193	192					2																	179433869		1930	4117	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433869G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72067C>A	2.37:g.179433869G>T	ENSP00000465570:p.Gln24023Lys					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q24023K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.Q25664K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77214	-			24023			Ig-like 125.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76990C>A		.	.	.	.	.	.	.	.	.	.	G	2.557	-0.302746	0.05495	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.93	3.1	0.35709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26048	0.0635	N	0.02266	-0.62	0.33359	D	0.572126	B;B;B;B	0.14012	0.009;0.009;0.009;0.002	B;B;B;B	0.14023	0.005;0.005;0.005;0.01	T	0.16808	-1.0390	9	0.87932	D	0	.	14.5358	0.67960	0.0589:0.212:0.7291:0.0	.	16599;16724;16791;24023	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23096;16599;16791;16724;16597	ENSP00000343764:Q23096K;ENSP00000434586:Q16599K;ENSP00000340554:Q16791K;ENSP00000352154:Q16724K	ENSP00000340554:Q16791K	Q	-	1	0	TTN	179142115	1.000000	0.71417	0.163000	0.22734	0.218000	0.24690	4.194000	0.58393	0.087000	0.17167	-0.810000	0.03169	CAG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	887	1	0	6.40141e-05	0.000978159	0.000287927	12	887					T	179433869	G	T	179433869	3	4	125	1	0	0	0	0	1	0	0	0	16789	1299	45	3	31137	3	TTN	2	179433869	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	81906283	179433869	63765504	31	38767											
TTN	7273	broad.mit.edu	37	chr2	179434141	179434141	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tatattttccactatcatatCggttgacattgtcaagaaca	5	8	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179434141C>A	ENST00000591111.1	-	276	72019	c.71795G>T	c.(71794-71796)cGa>cTa	p.R23932L	TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25573L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23932	Ig-like 120.				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)			ACTATCATATCGGTTGACATT	0.423																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(76717-76719)cGa>cTa		titin							94	87	90					2																	179434141		1906	4114	6020	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434141C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71795G>T	2.37:g.179434141C>A	ENSP00000465570:p.Arg23932Leu					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23932L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.R25573L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	76942	-			23932			Fibronectin type-III 86.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.76718G>T		.	.	.	.	.	.	.	.	.	.	C	14.92	2.679673	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.71	5.71	0.89125	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	0.65913	0.2737	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	0.67114	-0.5752	9	0.87932	D	0	.	19.8644	0.96799	0.0:1.0:0.0:0.0	.	16508;16633;16700;23932	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	23005;16508;16700;16633;16506	ENSP00000343764:R23005L;ENSP00000434586:R16508L;ENSP00000340554:R16700L;ENSP00000352154:R16633L	ENSP00000340554:R16700L	R	-	2	0	TTN	179142387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	347	1	0	0.000602214	0.000602214	0.0025667	5	347					A	179434141	C	A	179434141	3	1	125	1	0	0	0	0	1	0	0	0	16789	884	31	3	31409	3	TTN	2	179434141	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	272	179434141	63765232	32	38768											
TTN	7273	broad.mit.edu	37	chr2	179440550	179440550	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaggttgaggactgggcCtggcgtgtccaagactctga	15	11	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179440550C>T	ENST00000591111.1	-	276	65610	c.65386G>A	c.(65386-65388)Ggc>Agc	p.G21796S	TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23437S|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21796				PGPVLN -> ARPSPQ (in Ref. 13; CAA45939). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G14372C(1)|p.G20867C(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)			AGGACTGGGCCTGGCGTGTCC	0.493																																						ENST00000589042.1																			2	Substitution - Missense(2)	p.G14372C(1)|p.G20867C(1)	ovary(2)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(70309-70311)Ggc>Agc		titin							94	101	98					2																	179440550		2103	4242	6345	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440550C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65386G>A	2.37:g.179440550C>T	ENSP00000465570:p.Gly21796Ser					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21796S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA	p.G23437S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	70533	-			21796			Fibronectin type-III 70.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.70309G>A		.	.	.	.	.	.	.	.	.	.	C	16.49	3.138080	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.67	5.67	0.87782	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70298	0.3208	M	0.72479	2.2	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	0.72124	-0.4385	9	0.87932	D	0	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	14372;14497;14564;21796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20869;14372;14564;14497;14370	ENSP00000343764:G20869S;ENSP00000434586:G14372S;ENSP00000340554:G14564S;ENSP00000352154:G14497S	ENSP00000340554:G14564S	G	-	1	0	TTN	179148796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.655000	0.94253	GGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	570	0	0	0	0.0024448	0	31	570					T	179440550	C	T	179440550	3	4	125	1	0	0	0	0	1	0	0	0	16789	681	24	2	37818	2	TTN	2	179440550	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	6409	179440550	63758823	33	38769											
ANKAR	150709	broad.mit.edu	37	chr2	190554683	190554683	+	Frame_Shift_Del	DEL	T	T	-													ttaagtagtctgcttcagccTttttcaggtaagagtatcac							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:190554683delT	ENST00000520309.1	+	3	1120	c.1032delT	c.(1030-1032)cctfs	p.P344fs	ANKAR_ENST00000281412.6_Frame_Shift_Del_p.P108fs|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.P273fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000313581.4_Frame_Shift_Del_p.P344fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	344						integral component of membrane (GO:0016021)		p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCTTCAGCCTTTTTCAGGTA	0.289																																						ENST00000520309.1																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.P344P(1)|p.P273P(1)|p.S346fs*59(1)|p.S275fs*59(1)	lung(4)	breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1030-1032)ccfs		ankyrin and armadillo repeat containing							39	44	42					2																	190554683		2064	4223	6287	SO:0001589	frameshift_variant	150709					integral to membrane	binding	g.chr2:190554683delT	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1032delT	2.37:g.190554683delT	ENSP00000427882:p.Pro344fs					ANKAR_ENST00000313581.4_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.P273fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.P344fs|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000281412.6_Frame_Shift_Del_p.P108fs	p.P344fs	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		3	1120	+			344					Q3ZCS6|Q4G0M2|Q6ZU02	Frame_Shift_Del	DEL	ENST00000520309.1	37	c.1032delT	CCDS33351.2																																																																																				0.289	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		7	574						7	574	---	---	---	---	-	190554683	T	-	190554683	7	5	125	1	0	1	0	1	0	0	0	0	623	1596	56	0	1038	0	ANKAR	2	190554683	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08	11114133	190554683	52644690	34	38770											
DNER	92737	broad.mit.edu	37	chr2	230377562	230377562	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	atttgcatcaatacagctcgCgttgttttggcaaggtttcc	9	9	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:230377562C>T	ENST00000341772.4	-	6	1218	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	362	EGF-like 4. {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)		ATACAGCTCGCGTTGTTTTGG	0.438																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1084-1086)Gcg>Acg		delta/notch-like EGF repeat containing							226	187	200					2																	230377562		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230377562C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1084G>A	2.37:g.230377562C>T	ENSP00000345229:p.Ala362Thr						p.A362T	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	6	1218	-		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)	362			EGF-like 4.		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1084G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281809	0.59758	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.94232	-3.38	5.76	5.76	0.90799	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.221819	0.45867	D	0.000328	D	0.95082	0.8407	M	0.77486	2.375	0.27064	N	0.963488	D	0.57899	0.981	P	0.50049	0.629	D	0.91199	0.4990	10	0.72032	D	0.01	.	18.7207	0.91692	0.0:1.0:0.0:0.0	.	362	Q8NFT8	DNER_HUMAN	T	362;90	ENSP00000345229:A362T	ENSP00000345229:A362T	A	-	1	0	DNER	230085806	0.921000	0.31238	0.021000	0.16686	0.046000	0.14306	5.864000	0.69575	2.724000	0.93272	0.591000	0.81541	GCG		0.438	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		31	392	0	0	0	0.00178596	0	31	392					T	230377562	C	T	230377562	3	4	125	1	0	0	0	0	1	0	0	0	4683	768	27	1	1161	1	DNER	2	230377562	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	39822879	230377562	12821811	35	38771											
GIGYF2	26058	broad.mit.edu	37	chr2	233712228	233712230	+	In_Frame_Del	DEL	CAG	CAG	-													gtcagcagcagcagctgccaCagcagcagcagcagcagccg					rs62640389|rs10555297|rs398061180|rs527464858|rs58340018	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:233712228_233712230delCAG	ENST00000409547.1	+	29	3942_3944	c.3631_3633delCAG	c.(3631-3633)cagdel	p.Q1216del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1238del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1216	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1216delQ(2)|p.Q1237delQ(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)		gcagctgccacagcagcagcagc	0.547																																						ENST00000373566.3																			3	Deletion - In frame(3)	p.Q1216delQ(2)|p.Q1237delQ(1)	breast(2)|ovary(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						c.(3697-3699)del		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233712228_233712230delCAG	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.3631_3633delCAG	2.37:g.233712237_233712239delCAG	ENSP00000386537:p.Gln1216del					GIGYF2_ENST00000409547.1_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1237del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q1210del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q1216del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1238del	p.Q1238del			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	28	3894_3896	+		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)	1216			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.3697_3699delCAG	CCDS33401.1																																																																																				0.547	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		14	345						14	345	---	---	---	---	-	233712230	CAG	-	233712228	7	5	125	1	0	1	0	1	0	0	0	0	6407	479	17	0	3799	0	GIGYF2	2	233712228	In_Frame_Del	DEL	CAG	TCGA-YY-A8LH-01A-11D-A36O-08	3334666	233712228	9487145	36	38772											
USP40	55230	broad.mit.edu	37	chr2	234394236	234394237	+	Frame_Shift_Ins	INS	-	-	T													gccccttgcaaataatcttgINStttttttttctttttcctct					rs572063854		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:234394236_234394237insT	ENST00000427112.2	-	29	3476_3477	c.3441_3442insA	c.(3439-3444)aaacaafs	p.Q1148fs	USP40_ENST00000251722.6_Frame_Shift_Ins_p.Q1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.Q1160fs|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1148					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)		AAATAATCTTGTTTTTTTTTCT	0.337																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(3439-3444)aaaagafs		ubiquitin specific peptidase 40				3,3499		0,3,1748						4.9	1			69	11,7805		1,9,3898	no	frameshift	USP40	NM_018218.2		1,12,5646	A1A1,A1R,RR		0.1407,0.0857,0.1237				14,11304				SO:0001589	frameshift_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234394236_234394237insT	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.3442dupA	2.37:g.234394245_234394245dupT	ENSP00000387898:p.Gln1148fs					USP40_ENST00000427112.2_Frame_Shift_Ins_p.R1148fs|USP40_ENST00000450966.1_Frame_Shift_Ins_p.R1160fs|USP40_ENST00000496298.1_5'UTR	p.R1148fs			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	30	3558_3559	-		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)	1148					Q6NX38|Q70EL0	Frame_Shift_Ins	INS	ENST00000427112.2	37	c.3441_3442insA	CCDS46547.1																																																																																				0.337	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		9	355						9	355	---	---	---	---	T	234394237	-	T	234394236	7	5	125	1	0	1	1	0	0	0	0	0	17126	1386	48	0	277	0	USP40	2	234394236	Frame_Shift_Ins	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	682008	234394236	8805137	37	38773											
HDLBP	3069	broad.mit.edu	37	chr2	242179464	242179464	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcaccttgcgaattttgCcgccccccttgccgatgagg	11	16	0	1	rs199968516		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:242179464C>T	ENST00000391975.1	-	18	2470	c.2243G>A	c.(2242-2244)gGc>gAc	p.G748D	HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	748	KH 9. {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)		GCGAATTTTGCCGCCCCCCTT	0.542																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2242-2244)gGc>gAc		high density lipoprotein binding protein							170	158	162					2																	242179464		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179464C>T		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.2243G>A	2.37:g.242179464C>T	ENSP00000375836:p.Gly748Asp					HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D	p.G748D	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2470	-		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)	748			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2243G>A	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.627370|4.627370	0.87560|0.87560	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000427487|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;2.01	5.59|5.59	5.59|5.59	0.84812|0.84812	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.049242	.|0.85682	.|D	.|0.000000	T|T	0.50922|0.50922	0.1644|0.1644	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.624	.|P;P	.|0.57960	.|0.83;0.579	T|T	0.43376|0.43376	-0.9395|-0.9395	5|10	.|0.54805	.|T	.|0.06	-29.8584|-29.8584	19.6061|19.6061	0.95582|0.95582	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|715;748	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	T|D	150|748;748;748;715;257	.|ENSP00000375836:G748D;ENSP00000375837:G748D;ENSP00000312042:G748D;ENSP00000399139:G715D;ENSP00000388876:G257D	.|ENSP00000312042:G748D	A|G	-|-	1|2	0|0	HDLBP|HDLBP	241828137|241828137	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.804000|0.804000	0.45430|0.45430	5.921000|5.921000	0.70028|0.70028	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.542	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		8	528	0	0	0	0.000274275	0	8	528					T	242179464	C	T	242179464	3	4	125	1	0	0	0	0	1	0	0	0	7055	739	26	2	1607	2	HDLBP	2	242179464	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	7785228	242179464	1019909	38	38774											
SLC6A1	6529	broad.mit.edu	37	chr3	11058924	11058924	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	accaacggcagcaaggtggcCgacgggcagatctccaccga	13	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:11058924C>T	ENST00000287766.4	+	3	448	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR|SLC6A1_ENST00000462473.1_3'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	9					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)	GCAAGGTGGCCGACGGGCAGA	0.632																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(25-27)gcC>gcT		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						46	43	44					3																	11058924		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11058924C>T		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.27C>T	3.37:g.11058924C>T						SLC6A1_ENST00000462473.1_3'UTR|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_5'UTR	p.A9A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	3	448	+		Ovarian(110;0.0392)	9					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.27C>T	CCDS2603.1																																																																																				0.632	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		7	150	0	0	0	0.00198382	0	7	150					T	11058924	C	T	11058924	2	4	125	1	0	0	0	0	0	0	0	1	14723	639	23	1		1	SLC6A1	3	11058924	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		11058924	186963506	39	38775											
LRRFIP2	9209	broad.mit.edu	37	chr3	37154441	37154441	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agaatcagaagacctcttctTcattccatgagagtgactgt	8	9	4	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:37154441T>C	ENST00000336686.4	-	8	483	c.403A>G	c.(403-405)Aag>Gag	p.K135E	LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.K135E|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000440230.1_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	135	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						GACCTCTTCTTCATTCCATGA	0.328																																						ENST00000421307.1																			1	Whole gene deletion(1)	p.0?(1)	ovary(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(403-405)Aag>Gag		leucine rich repeat (in FLII) interacting protein 2							123	126	125					3																	37154441		2203	4300	6503	SO:0001583	missense	9209				Wnt receptor signaling pathway		LRR domain binding	g.chr3:37154441T>C	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.403A>G	3.37:g.37154441T>C	ENSP00000338727:p.Lys135Glu					LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.K135E|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron	p.K135E	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN			9	825	-			135			DVL3-binding.|Ser-rich.		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	ENST00000336686.4	37	c.403A>G	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886492	0.51908	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.46063	0.88;0.88;1.21	5.31	5.31	0.75309	.	0.394787	0.25872	N	0.027745	T	0.30355	0.0762	N	0.14661	0.345	0.32566	N	0.530498	P;P	0.45348	0.762;0.856	B;B	0.42738	0.303;0.396	T	0.40794	-0.9544	10	0.40728	T	0.16	-25.7202	14.3757	0.66874	0.0:0.0:0.0:1.0	.	104;135	A8MXR0;Q9Y608	.;LRRF2_HUMAN	E	135;135;104	ENSP00000392217:K135E;ENSP00000338727:K135E;ENSP00000379705:K104E	ENSP00000338727:K135E	K	-	1	0	LRRFIP2	37129445	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.517000	0.67061	2.145000	0.66743	0.482000	0.46254	AAG		0.328	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	NM_006309		202	534	0	0	0	0.000781405	0	202	534					C	37154441	T	C	37154441	3	2	125	1	0	0	0	0	1	0	0	0	9066	1792	62	4	1846	4	LRRFIP2	3	37154441	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	26095517	37154441	160867989	40	38776											
NKTR	4820	broad.mit.edu	37	chr3	42679764	42679764	+	Frame_Shift_Del	DEL	A	A	-													gaacgggaatgccctcattcAaaaaaaagaactttgaaaga							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:42679764delA	ENST00000232978.8	+	13	2756	c.2568delA	c.(2566-2568)tcafs	p.S856fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	856					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)		GCCCTCATTCAAAAAAAAGAA	0.373																																						ENST00000232978.8																			0				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						c.(2566-2568)tcfs		natural killer-tumor recognition sequence							44	49	47					3																	42679764		2191	4295	6486	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679764delA		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.2568delA	3.37:g.42679764delA	ENSP00000232978:p.Ser856fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.S856fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2756	+			856						Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2568delA	CCDS2702.1																																																																																				0.373	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	275						7	275	---	---	---	---	-	42679764	A	-	42679764	7	5	125	1	0	1	0	1	0	0	0	0	10490	117	5	0	2614	0	NKTR	3	42679764	Frame_Shift_Del	DEL	A	TCGA-YY-A8LH-01A-11D-A36O-08	5525323	42679764	155342666	41	38777											
ZNF502	91392	broad.mit.edu	37	chr3	44763222	44763222	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	gtgaatgtggctcttcttttCgaaaacactcaaatcttacg	7	9	4	1	rs561539227		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					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(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408																																						ENST00000296091.4																			0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(913-915)Cga>Aga		zinc finger protein 502							164	170	168					3																	44763222		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763222C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.913C>A	3.37:g.44763222C>A						ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	p.R305R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1169	+			305						Silent	SNP	ENST00000296091.4	37	c.913C>A	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		0.408	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		9	713	1	0	0.000673444	0.000673444	0.00285876	9	713					A	44763222	C	A	44763222	2	1	125	1	0	0	0	0	0	0	0	1	18003	876	31	3		3	ZNF502	3	44763222	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2083458	44763222	153259208	42	38778											
CXCR6	10663	broad.mit.edu	37	chr3	45988477	45988477	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	gtttccttgccccaaattatCtatggcaatgtctttaatct	5	10	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:45988477C>A	ENST00000458629.1	+	1	1967	c.504C>A	c.(502-504)atC>atA	p.I168I	CXCR6_ENST00000457814.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000438735.1_Silent_p.I168I|CXCR6_ENST00000304552.4_Silent_p.I168I|FYCO1_ENST00000535325.1_Intron			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	168					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CCCAAATTATCTATGGCAATG	0.502																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)	ENST00000458629.1																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8						c.(502-504)atC>atA		chemokine (C-X-C motif) receptor 6							114	108	110					3																	45988477		2203	4300	6503	SO:0001819	synonymous_variant	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988477C>A	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.504C>A	3.37:g.45988477C>A						FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000457814.1_Silent_p.I168I|CXCR6_ENST00000438735.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.I168I|FYCO1_ENST00000296137.2_Intron	p.I168I			O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	1967	+			168					O00575|Q9HCA5	Silent	SNP	ENST00000458629.1	37	c.504C>A	CCDS2735.1																																																																																				0.502	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			8	359	1	0	1.26484e-09	0.000157383	6.16102e-09	8	359					A	45988477	C	A	45988477	2	1	125	1	0	0	0	0	0	0	0	1	4106	903	32	3		3	CXCR6	3	45988477	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1225255	45988477	152033953	43	38779											
USP4	7375	broad.mit.edu	37	chr3	49321969	49321971	+	In_Frame_Del	DEL	TCT	TCT	-													gtctctcagggccactgtggTcttcttcttcttctgaggct					rs370067968		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:49321969_49321971delTCT	ENST00000265560.4	-	18	2364_2366	c.2318_2320delAGA	c.(2317-2322)aagacc>acc	p.K773del	USP4_ENST00000351842.4_In_Frame_Del_p.K726del	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	773	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GCCACTGTGGTCTTCTTCTTCTT	0.532																																						ENST00000351842.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(2176-2181)acc>a		ubiquitin specific peptidase 4 (proto-oncogene)			,	11,4255		0,11,2122					,	3.8	0.1			132	0,8254		0,0,4127	no	coding,coding	USP4	NM_199443.2,NM_003363.3	,	0,11,6249	A1A1,A1R,RR		0.0,0.2579,0.0879	,	,		11,12509				SO:0001651	inframe_deletion	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49321969_49321971delTCT	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2318_2320delAGA	3.37:g.49321978_49321980delTCT	ENSP00000265560:p.Lys773del					USP4_ENST00000265560.4_In_Frame_Del_p.KT773del	p.KT726del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	17	2185_2187	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	773					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	In_Frame_Del	DEL	ENST00000265560.4	37	c.2177_2179delAGA	CCDS2793.1																																																																																				0.532	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		7	519						7	519	---	---	---	---	-	49321971	TCT	-	49321969	7	5	125	1	0	1	0	1	0	0	0	0	17125	1667	58	0	591	0	USP4	3	49321969	In_Frame_Del	DEL	TCT	TCGA-YY-A8LH-01A-11D-A36O-08	3333492	49321969	148700461	44	38780											
CACNA1D	776	broad.mit.edu	37	chr3	53736723	53736723	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggggagatttccagaagctcCgggagaagcagcagctggag	17	8	0	3	rs554225579		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:53736723C>T	ENST00000350061.5	+	9	1787	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R426W	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	426					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)	CCAGAAGCTCCGGGAGAAGCA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20930	0.0		0.0	False		,,,				2504	0.0					ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1276-1278)Cgg>Tgg		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						65	67	66					3																	53736723		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53736723C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1276C>T	3.37:g.53736723C>T	ENSP00000288133:p.Arg426Trp					CACNA1D_ENST00000350061.5_Missense_Mutation_p.R426W|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R426W	p.R426W	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	9	1394	+			426					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1276C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706827	0.89018	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.39	5.39	0.77823	.	0.075737	0.53938	D	0.000056	D	0.98473	0.9491	H	0.96720	3.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.999;0.999	D	0.99007	1.0813	10	0.87932	D	0	.	14.2225	0.65836	0.149:0.8509:0.0:0.0	.	426;99;426;426	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	W	426;426;426;99	ENSP00000288133:R426W;ENSP00000288139:R426W;ENSP00000409174:R426W;ENSP00000418014:R99W	ENSP00000288139:R426W	R	+	1	2	CACNA1D	53711763	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.818000	0.69236	2.804000	0.96469	0.655000	0.94253	CGG		0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	188	0	0	0	0.000602214	0	5	188					T	53736723	C	T	53736723	3	4	125	1	0	0	0	0	1	0	0	0	2548	643	23	1	1418	1	CACNA1D	3	53736723	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	4414754	53736723	144285707	45	38781											
FBXO40	51725	broad.mit.edu	37	chr3	121340995	121340995	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcagcgagctgtgagaGcaagaacaagaatgactccg	11	9	2	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:121340995G>A	ENST00000338040.4	+	3	1133	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	240					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGCTGTGAGAGCAAGAACAAG	0.458																																						ENST00000338040.4																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(718-720)aGc>aAc		F-box protein 40							68	74	72					3																	121340995		2203	4300	6503	SO:0001583	missense	51725				muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:121340995G>A	AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.719G>A	3.37:g.121340995G>A	ENSP00000337510:p.Ser240Asn						p.S240N	NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	3	1133	+			240					B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	c.719G>A	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041439	0.02013	.	.	ENSG00000163833	ENST00000338040	T	0.43688	0.94	5.64	2.3	0.28687	.	1.305700	0.04337	N	0.353342	T	0.22475	0.0542	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19647	-1.0299	10	0.17832	T	0.49	-0.1509	4.5317	0.12008	0.3425:0.1562:0.5013:0.0	.	240	Q9UH90	FBX40_HUMAN	N	240	ENSP00000337510:S240N	ENSP00000337510:S240N	S	+	2	0	FBXO40	122823685	0.057000	0.20700	0.014000	0.15608	0.512000	0.34134	0.903000	0.28475	0.121000	0.18284	0.591000	0.81541	AGC		0.458	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298		4	133	0	0	0	0.00024832	0	4	133					A	121340995	G	A	121340995	3	1	125	1	0	0	0	0	1	0	0	0	5774	971	34	2	725	2	FBXO40	3	121340995	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	67604272	121340995	76681435	46	38782											
OSBPL11	114885	broad.mit.edu	37	chr3	125279224	125279224	+	Splice_Site	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	agcttatgccattacttactCttgttaaatccatgcccagc	5	12	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:125279224C>A	ENST00000296220.5	-	8	1443	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	385					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTACTTACTCTTGTTAAATC	0.383																																						ENST00000296220.5																			0				NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						c.e8+1		oxysterol binding protein-like 11							159	138	145					3																	125279224		2203	4300	6503	SO:0001630	splice_region_variant	114885				lipid transport		lipid binding	g.chr3:125279224C>A	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1155+1G>T	3.37:g.125279224C>A							p.R385_splice	NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN			8	1443	-			385					A8K9I7	Splice_Site	SNP	ENST00000296220.5	37	c.1155_splice	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977820	0.74360	.	.	ENSG00000144909	ENST00000296220	T	0.34072	1.38	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.76451	-0.2954	10	0.87932	D	0	-26.5516	18.9367	0.92589	0.0:1.0:0.0:0.0	.	385	Q9BXB4	OSB11_HUMAN	I	385	ENSP00000296220:R385I	ENSP00000296220:R385I	R	-	2	0	OSBPL11	126761914	1.000000	0.71417	0.922000	0.36590	0.516000	0.34256	7.555000	0.82223	2.776000	0.95493	0.655000	0.94253	AGA		0.383	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	Missense_Mutation	32	373	1	0	3.76114e-14	0.000814825	1.89311e-13	32	373					A	125279224	C	A	125279224	5	1	125	1	0	0	0	0	0	0	1	0	11318	927	32	3	1113	3	OSBPL11	3	125279224	Splice_Site	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	3938229	125279224	72743206	47	38783											
ABCC5	10057	broad.mit.edu	37	chr3	183663704	183663704	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gtctcagatgccagtctgacCgtaaactggaacagccccgt	10	13	2	2	rs375899840		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:183663704C>A	ENST00000334444.6	-	24	3678	c.3438G>T	c.(3436-3438)acG>acT	p.T1146T	ABCC5_ENST00000265586.6_Silent_p.T1103T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1146	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)	CCAGTCTGACCGTAAACTGGA	0.448																																						ENST00000334444.6																			0				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						c.(3436-3438)acG>acT		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							238	227	230					3																	183663704		1934	4149	6083	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183663704C>A	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.3438G>T	3.37:g.183663704C>A						ABCC5_ENST00000265586.6_Silent_p.T1103T	p.T1146T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		24	3678	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1146			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3438G>T	CCDS43176.1																																																																																				0.448	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		7	834	1	0	1.12685e-05	0.000274275	5.24705e-05	7	834					A	183663704	C	A	183663704	2	1	125	1	0	0	0	0	0	0	0	1	56	639	23	3		3	ABCC5	3	183663704	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	58384480	183663704	14358726	48	38784											
EHHADH	1962	broad.mit.edu	37	chr3	184910478	184910478	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	acctgtcttctggccaaatcGtcctaattcacagagcacat	6	13	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:184910478G>A	ENST00000231887.3	-	7	1783	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	570	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGGCCAAATCGTCCTAATTCA	0.473																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1708-1710)Cga>Tga		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						91	81	84					3																	184910478		2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910478G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1708C>T	3.37:g.184910478G>A	ENSP00000231887:p.Arg570*					EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*	p.R570*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1783	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		570			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.1708C>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	39	7.633440	0.98403	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	.	.	.	5.91	-0.0269	0.13928	.	0.058373	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3739	17.2992	0.87177	0.0:0.0:0.3145:0.6855	.	.	.	.	X	570;474	.	ENSP00000231887:R570X	R	-	1	2	EHHADH	186393172	1.000000	0.71417	0.893000	0.35052	0.999000	0.98932	1.576000	0.36504	0.050000	0.15949	0.655000	0.94253	CGA		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			9	366	0	0	0	0.000442599	0	9	366					A	184910478	G	A	184910478	4	1	125	1	0	0	0	0	0	1	0	0	4998	1153	40	1	467	1	EHHADH	3	184910478	Nonsense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1246774	184910478	13111952	49	38785											
ZFYVE28	57732	broad.mit.edu	37	chr4	2355738	2355738	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccaggctgtccagctccgcGgccacctggttcagctcctc	10	18	1	0	rs542809889	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2355738G>A	ENST00000290974.2	-	2	441	c.102C>T	c.(100-102)gcC>gcT	p.A34A	ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000511071.1_Silent_p.A34A|ZFYVE28_ENST00000503000.1_Silent_p.A34A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	34					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						CCAGCTCCGCGGCCACCTGGT	0.677													g|||	7	0.00139776	0.0	0.0	5008	,	,		16128	0.001		0.0	False		,,,				2504	0.0061					ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(100-102)gcC>gcT		zinc finger, FYVE domain containing 28							18	17	18					4																	2355738		2201	4300	6501	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2355738G>A	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.102C>T	4.37:g.2355738G>A						ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000503000.1_Silent_p.A34A|ZFYVE28_ENST00000511071.1_Silent_p.A34A|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000515312.1_5'UTR	p.A34A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			2	441	-			34					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.102C>T	CCDS33942.1																																																																																				0.677	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		7	37	0	0	0	0.00198382	0	7	37					A	2355738	G	A	2355738	2	1	125	1	0	0	0	0	0	0	0	1	17723	1103	39	1		1	ZFYVE28	4	2355738	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		2355738	188798538	50	38786											
FAM193A	8603	broad.mit.edu	37	chr4	2691390	2691390	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	atcagaagtgatgaatgataAgaactggaatcctggcactt	10	6	1	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2691390A>T	ENST00000324666.5	+	12	1967	c.1616A>T	c.(1615-1617)aAg>aTg	p.K539M	FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M|FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	539										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						ATGAATGATAAGAACTGGAAT	0.353																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(1615-1617)aAg>aTg		family with sequence similarity 193, member A							68	73	72					4																	2691390		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2691390A>T	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1616A>T	4.37:g.2691390A>T	ENSP00000324587:p.Lys539Met					FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M|FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M	p.K539M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			12	1967	+			539					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.1616A>T	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973078	0.74246	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.59436	1.845	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	0.87578	0.998;0.997;0.998;0.997;0.998	T	0.47724	-0.9095	10	0.72032	D	0.01	-39.2116	14.6205	0.68582	1.0:0.0:0.0:0.0	.	539;561;539;561;539	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	M	539;539;539;561;393	ENSP00000372290:K539M;ENSP00000324587:K539M;ENSP00000443617:K539M;ENSP00000427505:K561M;ENSP00000427260:K393M	ENSP00000324587:K539M	K	+	2	0	FAM193A	2661188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.217000	0.72218	2.048000	0.60808	0.456000	0.33151	AAG		0.353	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		8	373	0	0	0	0.000157383	0	8	373					T	2691390	A	T	2691390	3	4	125	1	0	0	0	0	1	0	0	0	5545	72	3	5	1654	5	FAM193A	4	2691390	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	335652	2691390	188462886	51	38787											
LYAR	55646	broad.mit.edu	37	chr4	4276258	4276258	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcctgtccctttttgCgcttcttaggcttctgattc	7	14	2	1	rs201663400		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:4276258C>T	ENST00000343470.4	-	7	908	c.668G>A	c.(667-669)cGc>cAc	p.R223H	LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	223	Lys-rich.					nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCCTTTTTGCGCTTCTTAGG	0.483																																						ENST00000343470.4																			0				endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17						c.(667-669)cGc>cAc		Ly1 antibody reactive							249	236	240					4																	4276258		2203	4300	6503	SO:0001583	missense	55646					nucleolus	metal ion binding|protein binding	g.chr4:4276258C>T	AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.668G>A	4.37:g.4276258C>T	ENSP00000345917:p.Arg223His					LYAR_ENST00000452476.1_Missense_Mutation_p.R223H	p.R223H	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	7	908	-			223			Lys-rich.		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	ENST00000343470.4	37	c.668G>A	CCDS3374.1	.	.	.	.	.	.	.	.	.	.	C	7.555	0.663452	0.14710	.	.	ENSG00000145220	ENST00000343470;ENST00000452476	T;T	0.32515	1.45;1.45	5.34	0.47	0.16747	.	0.598136	0.16812	N	0.198485	T	0.12860	0.0312	N	0.08118	0	0.28701	N	0.904077	B	0.33135	0.399	B	0.23275	0.045	T	0.09930	-1.0652	10	0.49607	T	0.09	-1.7228	9.5296	0.39185	0.0:0.6196:0.0:0.3804	.	223	Q9NX58	LYAR_HUMAN	H	223	ENSP00000345917:R223H;ENSP00000397367:R223H	ENSP00000345917:R223H	R	-	2	0	LYAR	4327159	0.491000	0.26019	0.318000	0.25279	0.008000	0.06430	0.021000	0.13489	-0.162000	0.10964	-0.291000	0.09656	CGC		0.483	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246800.2	NM_017816		6	666	0	0	0	0.00116845	0	6	666					T	4276258	C	T	4276258	3	4	125	1	0	0	0	0	1	0	0	0	9142	768	27	1	487	1	LYAR	4	4276258	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1584868	4276258	186878018	52	38788											
UGDH	7358	broad.mit.edu	37	chr4	39512385	39512385	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaattttgtacccatTtgagttttgcacaatgcgtc	7	9	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:39512385T>C	ENST00000316423.6	-	4	703	c.361A>G	c.(361-363)Aat>Gat	p.N121D	UGDH_ENST00000501493.2_Intron|UGDH_ENST00000515398.1_5'Flank|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D|UGDH_ENST00000507089.1_Missense_Mutation_p.N24D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	121					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						TTGTACCCATTTGAGTTTTGC	0.433																																						ENST00000316423.6																			0				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						c.(361-363)Aat>Gat		UDP-glucose 6-dehydrogenase	NADH(DB00157)						169	157	161					4																	39512385		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39512385T>C	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.361A>G	4.37:g.39512385T>C	ENSP00000319501:p.Asn121Asp					UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D|UGDH_ENST00000501493.2_Intron	p.N121D	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			4	703	-			121					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.361A>G	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563464	0.45694	.	.	ENSG00000109814	ENST00000316423;ENST00000506179;ENST00000507089;ENST00000515021;ENST00000514106;ENST00000509391	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.95	-0.408	0.12381	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.233858	0.49916	D	0.000133	T	0.53238	0.1784	N	0.17922	0.545	0.37435	D	0.914199	B	0.02656	0.0	B	0.06405	0.002	T	0.41998	-0.9477	10	0.12430	T	0.62	0.1388	11.693	0.51527	0.0828:0.0:0.1465:0.7707	.	121	O60701	UGDH_HUMAN	D	121;121;24;134;121;121	ENSP00000319501:N121D;ENSP00000421757:N121D;ENSP00000426560:N24D;ENSP00000421954:N134D;ENSP00000425834:N121D;ENSP00000422603:N121D	ENSP00000319501:N121D	N	-	1	0	UGDH	39188780	0.994000	0.37717	0.980000	0.43619	0.998000	0.95712	1.356000	0.34079	0.011000	0.14865	0.528000	0.53228	AAT		0.433	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		202	464	0	0	0	0.000781405	0	202	464					C	39512385	T	C	39512385	3	2	125	1	0	0	0	0	1	0	0	0	16994	1841	64	4	1159	4	UGDH	4	39512385	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	35236127	39512385	151641891	53	38789											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-													agctgctgctcctgggagctCtgctgctgctgctgctgcgt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	2082	protein-coding gene	gene with protein product		601851	"clock (mouse) homolog", "clock homolog (mouse)"			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	269						8	269	---	---	---	---	-	56304532	CTG	-	56304530	7	5	125	1	0	1	0	1	0	0	0	0	3558	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-YY-A8LH-01A-11D-A36O-08	16792145	56304530	134849746	54	38790											
HERC5	51191	broad.mit.edu	37	chr4	89414249	89414249	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagagatgatccagccGgaatatgggatgttcatgta	12	6	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:89414249G>A	ENST00000264350.3	+	17	2373	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	AC083829.1_ENST00000408152.2_RNA|HERC5_ENST00000508159.1_Silent_p.P378P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	740	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCAGCCGGAATATGGGA	0.443																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(2218-2220)ccG>ccA		HECT and RLD domain containing E3 ubiquitin protein ligase 5							189	166	174					4																	89414249		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89414249G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"hect domain and RLD 5"			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2220G>A	4.37:g.89414249G>A						HERC5_ENST00000508159.1_Silent_p.P378P	p.P740P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	17	2373	+		Hepatocellular(203;0.114)	740			HECT.		B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.2220G>A	CCDS3630.1																																																																																				0.443	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		28	336	0	0	0	0.00209593	0	28	336					A	89414249	G	A	89414249	2	1	125	1	0	0	0	0	0	0	0	1	7091	1103	39	1		1	HERC5	4	89414249	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	33109719	89414249	101740027	55	38791											
PCDH10	57575	broad.mit.edu	37	chr4	134073128	134073128	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggacgcggacgacggCgagaacgcccggctcactta	15	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073128C>T	ENST00000264360.5	+	1	2659	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	611	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(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)		CGGACGACGGCGAGAACGCCC	0.692																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1831-1833)ggC>ggT		protocadherin 10							27	31	29					4																	134073128		2132	4234	6366	SO:0001819	synonymous_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073128C>T	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.1833C>T	4.37:g.134073128C>T							p.G611G	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2659	+			611			Cadherin 6.		Q4W5F6|Q96SF0	Silent	SNP	ENST00000264360.5	37	c.1833C>T	CCDS34063.1																																																																																				0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	213	0	0	0	0.00198382	0	5	213					T	134073128	C	T	134073128	2	4	125	1	0	0	0	0	0	0	0	1	11549	755	27	1		1	PCDH10	4	134073128	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	44658879	134073128	57081148	56	38792											
CTNND2	1501	broad.mit.edu	37	chr5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctggggactgcagggcccGcaactctgggcccaggtgcc	15	14	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:11364949G>A	ENST00000304623.8	-	8	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	411					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						TGCAGGGCCCGCAACTCTGGG	0.577																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1231-1233)Cgg>Tgg		catenin (cadherin-associated protein), delta 2							49	54	52					5																	11364949		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11364949G>A	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.1231C>T	5.37:g.11364949G>A	ENSP00000307134:p.Arg411Trp					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W	p.R411W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			8	1420	-			411					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1231C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504805	0.85176	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	D;D;D;T	0.83419	-1.6;-1.72;-1.6;-1.41	5.47	4.52	0.55395	.	0.000000	0.64402	D	0.000019	D	0.88097	0.6345	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.88375	0.2997	10	0.87932	D	0	-20.37	10.9741	0.47456	0.0:0.0:0.5842:0.4157	.	74;411	B4DRK2;Q9UQB3	.;CTND2_HUMAN	W	411;411;320;74;151	ENSP00000307134:R411W;ENSP00000352661:R411W;ENSP00000426510:R320W;ENSP00000426887:R74W	ENSP00000307134:R411W	R	-	1	2	CTNND2	11417949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.008000	0.49544	2.581000	0.87130	0.655000	0.94253	CGG		0.577	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		29	108	0	0	0	0.00127121	0	29	108					A	11364949	G	A	11364949	3	1	125	1	0	0	0	0	1	0	0	0	4031	1086	38	1	2506	1	CTNND2	5	11364949	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		11364949	169550311	57	38793											
SFRS12IP1	285672	broad.mit.edu	37	chr5	64023957	64023957	+	Silent	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	ttccttttttttttcaatttGattttttctttgcttttttc	2	6	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:64023957G>T	ENST00000513458.4	-	4	422	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	85	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						ttttcaatttgattttttctt	0.269																																						ENST00000513458.4																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(253-255)atC>atA		SREK1-interacting protein 1							17	21	19					5																	64023957		2130	4185	6315	SO:0001819	synonymous_variant	285672				mRNA processing|RNA splicing		nucleic acid binding|zinc ion binding	g.chr5:64023957G>T	AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.255C>A	5.37:g.64023957G>T							p.I85I	NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN			4	422	-			85			Lys-rich.		Q32NC8	Silent	SNP	ENST00000513458.4	37	c.255C>A	CCDS34171.1																																																																																				0.269	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368457.4	NM_173829		6	102	1	0	5.18039e-06	0.000157383	2.43363e-05	6	102					T	64023957	G	T	64023957	2	4	125	1	0	0	0	0	0	0	0	1	14218	1280	45	3		3	SFRS12IP1	5	64023957	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	52659008	64023957	116891303	58	38794											
MRPS27	23107	broad.mit.edu	37	chr5	71533926	71533926	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatagtccagtttctcAggtaccagcagttggggctg	14	8	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:71533926A>G	ENST00000261413.5	-	5	350	c.311T>C	c.(310-312)cTg>cCg	p.L104P	MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	104						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CCAGTTTCTCAGGTACCAGCA	0.413																																						ENST00000261413.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						c.(310-312)cTg>cCg		mitochondrial ribosomal protein S27							103	92	96					5																	71533926		2203	4300	6503	SO:0001583	missense	23107					mitochondrion|ribosome		g.chr5:71533926A>G	D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"Mitochondrial ribosomal proteins / small subunits"	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.311T>C	5.37:g.71533926A>G	ENSP00000261413:p.Leu104Pro					MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P	p.L104P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)	5	350	-		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	104					B4DRT2|Q6P1S1	Missense_Mutation	SNP	ENST00000261413.5	37	c.311T>C	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518352	0.85495	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.75657	0.3879	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79317	-0.1853	10	0.87932	D	0	-18.2091	15.0979	0.72250	1.0:0.0:0.0:0.0	.	118;48;104	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	P	104;48;118;48;48	ENSP00000261413:L104P;ENSP00000428120:L48P;ENSP00000426941:L118P;ENSP00000426176:L48P;ENSP00000427237:L48P	ENSP00000261413:L104P	L	-	2	0	MRPS27	71569682	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.771000	0.91751	1.970000	0.57323	0.374000	0.22700	CTG		0.413	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	NM_015084		6	663	0	0	0	0.00116845	0	6	663					G	71533926	A	G	71533926	3	3	125	1	0	0	0	0	1	0	0	0	9879	188	7	4	961	4	MRPS27	5	71533926	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	7509969	71533926	109381334	59	38795											
C5orf36	285600	broad.mit.edu	37	chr5	93856355	93856355	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taagcactgctttttcaataAaattttttgctgtgaattgt	6	5	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:93856355A>G	ENST00000329378.7	-	5	817	c.568T>C	c.(568-570)Tta>Cta	p.L190L	KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000312498.7_Silent_p.L190L|KIAA0825_ENST00000513200.3_Silent_p.L190L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	190										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTTTCAATAAAATTTTTTGC	0.318																																						ENST00000513200.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(568-570)Tta>Cta		KIAA0825							110	113	112					5																	93856355		2203	4299	6502	SO:0001819	synonymous_variant	285600							g.chr5:93856355A>G	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.568T>C	5.37:g.93856355A>G						KIAA0825_ENST00000427991.2_Silent_p.L190L|KIAA0825_ENST00000312498.7_Silent_p.L190L|KIAA0825_ENST00000329378.7_Silent_p.L190L	p.L190L	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN			4	640	-			190					O94914|Q6ZNN2	Silent	SNP	ENST00000329378.7	37	c.568T>C	CCDS4070.1																																																																																				0.318	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		22	334	0	0	0	0.000720815	0	22	334					G	93856355	A	G	93856355	2	3	125	1	0	0	0	0	0	0	0	1	2302	11	1	4		4	C5orf36	5	93856355	Silent	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	22322429	93856355	87058905	60	38796											
CSNK1G3	1456	broad.mit.edu	37	chr5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-													ggacctaactttagagttggAaaaaaaattggatgtggcaa							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102	101	101					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		7	536						7	536	---	---	---	---	-	122881495	A	-	122881495	7	5	125	1	0	1	0	1	0	0	0	0	3967	233	9	0	140	0	CSNK1G3	5	122881495	Frame_Shift_Del	DEL	A	TCGA-YY-A8LH-01A-11D-A36O-08	29025140	122881495	58033765	61	38797											
FBN2	2201	broad.mit.edu	37	chr5	127624885	127624885	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ttcacagcgaaaagatccgtCggtgttgatacattgaccat	9	9	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:127624885C>T	ENST00000508053.1	-	58	7545	c.6571G>A	c.(6571-6573)Gac>Aac	p.D2191N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N			P35556	FBN2_HUMAN	fibrillin 2	2191	EGF-like 36; 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)		AAAGATCCGTCGGTGTTGATA	0.413																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6571-6573)Gac>Aac		fibrillin 2							161	150	154					5																	127624885		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127624885C>T	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.6571G>A	5.37:g.127624885C>T	ENSP00000424571:p.Asp2191Asn					FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N	p.D2191N			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	58	7545	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2191			EGF-like 36; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6571G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715887	0.89112	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92299	-3.01;-3.01	5.76	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.090325	0.48286	D	0.000191	D	0.87087	0.6090	L	0.46885	1.475	0.51233	D	0.999917	P	0.51933	0.949	B	0.35470	0.203	D	0.86989	0.2109	10	0.34782	T	0.22	.	15.7202	0.77705	0.0:0.9314:0.0:0.0686	.	2191	P35556	FBN2_HUMAN	N	2191	ENSP00000262464:D2191N;ENSP00000424571:D2191N	ENSP00000262464:D2191N	D	-	1	0	FBN2	127652784	1.000000	0.71417	0.702000	0.30337	0.730000	0.41778	5.939000	0.70179	2.882000	0.98803	0.655000	0.94253	GAC		0.413	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		22	502	0	0	0	0.00229938	0	22	502					T	127624885	C	T	127624885	3	4	125	1	0	0	0	0	1	0	0	0	5728	884	31	1	2223	1	FBN2	5	127624885	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	4743390	127624885	53290375	62	38798											
TRPC7	57113	broad.mit.edu	37	chr5	135692940	135692940	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccgagtccaggaagcGctcctcctcgggcgtcagac	12	16	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:135692940G>A	ENST00000513104.1	-	2	418	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	46					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCAGGAAGCGCTCCTCCTCG	0.612																																						ENST00000513104.1																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(136-138)Cgc>Tgc		transient receptor potential cation channel, subfamily C, member 7							90	101	97					5																	135692940		2131	4259	6390	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692940G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.136C>T	5.37:g.135692940G>A	ENSP00000426070:p.Arg46Cys					TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C	p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	418	-			46					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.136C>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.814083|4.814083	0.90790|0.90790	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.79247	.|-1.09;-1.25;-1.21	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85327|0.85327	0.5671|0.5671	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999993|0.999993	.|P;D;D;D	.|0.89917	.|0.916;1.0;0.999;0.999	.|B;D;P;P	.|0.65010	.|0.232;0.931;0.899;0.899	D|D	0.86290|0.86290	0.1673|0.1673	5|10	.|0.72032	.|D	.|0.01	-15.4883|-15.4883	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|46;46;46;46	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	V|C	45|46	.|ENSP00000347312:R46C;ENSP00000441628:R46C;ENSP00000426070:R46C	.|ENSP00000265193:R46C	A|R	-|-	2|1	0|0	TRPC7|TRPC7	135720839|135720839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.761000|7.761000	0.85260|0.85260	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.612	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		22	630	0	0	0	0.000720815	0	22	630					A	135692940	G	A	135692940	3	1	125	1	0	0	0	0	1	0	0	0	16637	1087	38	1	2496	1	TRPC7	5	135692940	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	8068055	135692940	45222320	63	38799											
PCDHA2	56146	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	20	11	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1489-1491)Cgg>Tgg									53	57	56					5																	140176038		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176038C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp					PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R497W	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		7	355	0	0	0	0.000442599	0	7	355					T	140176038	C	T	140176038	3	4	125	1	0	0	0	0	1	0	0	0	11566	759	27	1	1491	1	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	4483098	140176038	40739222	64	38800											
PCDHA9	9752	broad.mit.edu	37	chr5	140229544	140229544	+	Silent	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gctgacgcgcaggagaacgcCctggtgtcctactcgctggt	14	13	0	2	rs527334652	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140229544C>G	ENST00000532602.1	+	1	2497	c.1464C>G	c.(1462-1464)gcC>gcG	p.A488A	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.A488A	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	488	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)			AGGAGAACGCCCTGGTGTCCT	0.667													.|||	2	0.000399361	0.0015	0.0	5008	,	,		17639	0.0		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1462-1464)gcC>gcG																																						SO:0001819	synonymous_variant	0							g.chr5:140229544C>G	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.1464C>G	5.37:g.140229544C>G						PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A488A|PCDHA1_ENST00000394633.3_Intron	p.A488A	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2188	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1464C>G	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		129	407	0	0	0	0.000781405	0	129	407					G	140229544	C	G	140229544	2	3	125	1	0	0	0	0	0	0	0	1	11573	610	22	5		5	PCDHA9	5	140229544	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	53506	140229544	40685716	65	38801											
TCERG1	10915	broad.mit.edu	37	chr5	145851118	145851118	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagccagttgctactgCtcctattcctggtactccat	8	13	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:145851118C>A	ENST00000296702.5	+	9	1618	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	527					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCTACTGCTCCTATTCCT	0.423																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1579-1581)gCt>gAt		transcription elongation regulator 1							124	124	124					5																	145851118		2203	4300	6503	SO:0001583	missense	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145851118C>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1580C>A	5.37:g.145851118C>A	ENSP00000296702:p.Ala527Asp					TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	p.A527D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1618	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	527					Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	c.1580C>A	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095411	0.56075	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.44482	0.92;0.92	5.63	5.63	0.86233	.	0.094736	0.64402	D	0.000001	T	0.30978	0.0782	N	0.08118	0	0.31301	N	0.688266	P;P;B	0.42649	0.786;0.762;0.041	B;B;B	0.43082	0.407;0.242;0.003	T	0.15263	-1.0443	10	0.30078	T	0.28	-8.6494	19.6756	0.95930	0.0:1.0:0.0:0.0	.	506;506;527	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	D	527;506	ENSP00000296702:A527D;ENSP00000377943:A506D	ENSP00000296702:A527D	A	+	2	0	TCERG1	145831311	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	4.739000	0.62080	2.664000	0.90586	0.313000	0.20887	GCT		0.423	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		5	525	1	0	0.000602214	0.000602214	0.0025667	5	525					A	145851118	C	A	145851118	3	1	125	1	0	0	0	0	1	0	0	0	15737	797	28	3	1614	3	TCERG1	5	145851118	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5621574	145851118	35064142	66	38802											
GABRG2	2566	broad.mit.edu	37	chr5	161580182	161580182	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	caagagagagatgaagagtaCggctatgagtgtctggacgg	16	5	1	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:161580182C>T	ENST00000361925.4	+	9	1432	c.1212C>T	c.(1210-1212)taC>taT	p.Y404Y	GABRG2_ENST00000356592.3_Silent_p.Y412Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000414552.2_Silent_p.Y452Y			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGAAGAGTACGGCTATGAGT	0.488																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1234-1236)taC>taT		gamma-aminobutyric acid (GABA) A receptor, gamma 2							185	170	175					5																	161580182		2203	4300	6503	SO:0001819	synonymous_variant	0				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580182C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1212C>T	5.37:g.161580182C>T						GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y	p.Y412Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1696	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	404					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	c.1236C>T	CCDS4358.1																																																																																				0.488	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			6	318	0	0	0	0.00116845	0	6	318					T	161580182	C	T	161580182	2	4	125	1	0	0	0	0	0	0	0	1	6199	547	19	1		1	GABRG2	5	161580182	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	15729064	161580182	19335078	67	38803											
ODZ2	57451	broad.mit.edu	37	chr5	167626955	167626955	+	Silent	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	gcagggtacaagtcactgctGaagatcaccatgacccagtc	10	12	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:167626955G>A	ENST00000518659.1	+	17	3288	c.3249G>A	c.(3247-3249)ctG>ctA	p.L1083L	TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000520394.1_Silent_p.L851L|TENM2_ENST00000519204.1_Silent_p.L962L|TENM2_ENST00000403607.2_Silent_p.L907L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1083					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)										AGTCACTGCTGAAGATCACCA	0.507																																						ENST00000519204.1																			0											c.(2884-2886)ctG>ctA		teneurin transmembrane protein 2							127	127	127					5																	167626955		1970	4177	6147	SO:0001819	synonymous_variant	57451							g.chr5:167626955G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3249G>A	5.37:g.167626955G>A						TENM2_ENST00000520394.1_Silent_p.L851L|TENM2_ENST00000545108.1_Silent_p.L1083L|TENM2_ENST00000518659.1_Silent_p.L1083L|TENM2_ENST00000403607.2_Silent_p.L907L	p.L962L							16	3004	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.2886G>A																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		7	403	0	0	0	0.00198382	0	7	403					A	167626955	G	A	167626955	2	1	125	1	0	0	0	0	0	0	0	1	10877	1277	45	2		2	ODZ2	5	167626955	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	6046773	167626955	13288305	68	38804											
NKX2-5	1482	broad.mit.edu	37	chr5	172660081	172660081	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtaccgctgctgcttgaagcGccgctccagctcatagacct	10	15	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:172660081G>A	ENST00000329198.4	-	2	739	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	156					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|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)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|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 via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTGAAGCGCCGCTCCAGC	0.677																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	ENST00000329198.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12						c.(466-468)Cgc>Tgc		NK2 homeobox 5							16	14	15					5																	172660081		2203	4296	6499	SO:0001583	missense	0				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172660081G>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.466C>T	5.37:g.172660081G>A	ENSP00000327758:p.Arg156Cys					NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	p.R156C	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	739	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	156					A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.466C>T	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038907	0.75617	.	.	ENSG00000183072	ENST00000329198	D	0.96136	-3.92	4.12	3.16	0.36331	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.52532	D	0.000063	D	0.96589	0.8887	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96214	0.9155	10	0.87932	D	0	.	11.6702	0.51396	0.0:0.0:0.7125:0.2875	.	156	P52952	NKX25_HUMAN	C	156	ENSP00000327758:R156C	ENSP00000327758:R156C	R	-	1	0	NKX2-5	172592687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.303000	0.51858	2.307000	0.77673	0.462000	0.41574	CGC		0.677	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			8	61	0	0	0	0.000157383	0	8	61					A	172660081	G	A	172660081	3	1	125	1	0	0	0	0	1	0	0	0	10495	1087	38	1	512	1	NKX2-5	5	172660081	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	5033126	172660081	8255179	69	38805											
PHIP	55023	broad.mit.edu	37	chr6	79711802	79711802	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	attgttggcatcacgaataaGtggccgataatcactatgaa	9	7	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:79711802G>A	ENST00000275034.4	-	17	1860	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	565					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)		TCACGAATAAGTGGCCGATAA	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(1693-1695)Ctt>Ttt		pleckstrin homology domain interacting protein							113	104	107					6																	79711802		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79711802G>A	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.1693C>T	6.37:g.79711802G>A	ENSP00000275034:p.Leu565Phe						p.L565F	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	17	1860	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	565					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.1693C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950918	0.73787	.	.	ENSG00000146247	ENST00000275034	T	0.61392	0.11	5.63	4.75	0.60458	.	0.088632	0.45867	D	0.000337	T	0.77890	0.4198	M	0.92604	3.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.82327	-0.0512	9	.	.	.	-16.7819	14.5837	0.68310	0.074:0.0:0.926:0.0	.	565;565	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	565	ENSP00000275034:L565F	.	L	-	1	0	PHIP	79768521	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.205000	0.72148	2.799000	0.96334	0.650000	0.86243	CTT		0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			16	173	0	0	0	0.000958276	0	16	173					A	79711802	G	A	79711802	3	1	125	1	0	0	0	0	1	0	0	0	11884	1029	36	2	3868	2	PHIP	6	79711802	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		79711802	91403265	70	38806											
GRIK2	2898	broad.mit.edu	37	chr6	102266347	102266347	+	Missense_Mutation	SNP	A	A	T													ccaatcgttctttgattgttAccaccattttggtaagtatt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266347A>T	ENST00000421544.1	+	9	1796	c.1306A>T	c.(1306-1308)Acc>Tcc	p.T436S	GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000369138.1_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					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)	TTTGATTGTTACCACCATTTT	0.383																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1306-1308)Acc>Tcc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						192	172	179					6																	102266347		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266347A>T		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.1306A>T	6.37:g.102266347A>T	ENSP00000397026:p.Thr436Ser					GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S	p.T436S	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1796	+		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)	436					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1306A>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541984	0.45280	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35973	2.79;2.79;2.79;2.79;2.79;2.79;1.28;2.79	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.28830	0.0715	L	0.61218	1.895	0.43226	D	0.995116	B;B;B	0.18863	0.031;0.002;0.007	B;B;B	0.27380	0.079;0.022;0.049	T	0.15723	-1.0427	10	0.72032	D	0.01	.	16.151	0.81622	1.0:0.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436S;ENSP00000405596:T436S;ENSP00000358134:T436S;ENSP00000358133:T436S;ENSP00000313276:T436S;ENSP00000358130:T387S;ENSP00000391988:T149S;ENSP00000407140:T35S	ENSP00000313276:T436S	T	+	1	0	GRIK2	102373040	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.412000	0.66392	2.221000	0.72209	0.523000	0.50628	ACC		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	114	0	0	0	0.000442599	0	6	114					T	102266347	A	T	102266347	3	4	125	1	0	0	0	0	1	0	0	0	6804	391	14	5	1340	5	GRIK2	6	102266347	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	22554545	102266347	68848720	71	38807	239	2									
GRIK2	2898	broad.mit.edu	37	chr6	102266348	102266348	+	Missense_Mutation	SNP	C	C	T													caatcgttctttgattgttaCcaccattttggtaagtattt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266348C>T	ENST00000421544.1	+	9	1797	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000369138.1_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	436					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)	TTGATTGTTACCACCATTTTG	0.383																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1306-1308)aCc>aTc		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						192	172	179					6																	102266348		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102266348C>T		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.1307C>T	6.37:g.102266348C>T	ENSP00000397026:p.Thr436Ile					GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000421544.1_Missense_Mutation_p.T436I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I	p.T436I	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	9	1797	+		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)	436					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.1307C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935787	0.73442	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35789	2.8;2.8;2.8;2.8;2.8;2.8;1.29;2.8	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.56673	0.2001	M	0.77406	2.37	0.54753	D	0.999982	D;P;D	0.58970	0.984;0.932;0.984	D;P;P	0.65573	0.936;0.794;0.899	T	0.57665	-0.7772	10	0.59425	D	0.04	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436I;ENSP00000405596:T436I;ENSP00000358134:T436I;ENSP00000358133:T436I;ENSP00000313276:T436I;ENSP00000358130:T387I;ENSP00000391988:T149I;ENSP00000407140:T35I	ENSP00000313276:T436I	T	+	2	0	GRIK2	102373041	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.753000	0.94483	0.643000	0.83706	ACC		0.383	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	113	0	0	0	0.000274275	0	6	113					T	102266348	C	T	102266348	3	4	125	1	0	0	0	0	1	0	0	0	6804	507	18	2	1341	2	GRIK2	6	102266348	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1	102266348	68848719	72	38808	239	2									
KIAA1919	91749	broad.mit.edu	37	chr6	111585122	111585122	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcatgatgtctatcttcGgtgtttcaattggcattctg	9	8	5	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:111585122G>T	ENST00000368847.4	+	3	639	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	96					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)		GTCTATCTTCGGTGTTTCAAT	0.428																																						ENST00000368847.4																			0				large_intestine(3)|lung(2)|ovary(4)|skin(3)	12						c.(286-288)Ggt>Tgt		KIAA1919							198	184	189					6																	111585122		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111585122G>T	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.286G>T	6.37:g.111585122G>T	ENSP00000357840:p.Gly96Cys						p.G96C	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	3	639	+		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)	96					A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.286G>T	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523947	0.64747	.	.	ENSG00000173214	ENST00000368847	T	0.77877	-1.13	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90031	0.4135	10	0.87932	D	0	-18.7946	20.0591	0.97667	0.0:0.0:1.0:0.0	.	96	Q5TF39	NAGT1_HUMAN	C	96	ENSP00000357840:G96C	ENSP00000357840:G96C	G	+	1	0	KIAA1919	111691815	1.000000	0.71417	0.693000	0.30195	0.038000	0.13279	8.978000	0.93450	2.747000	0.94245	0.462000	0.41574	GGT		0.428	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		6	415	1	0	0.000157383	0.000157383	0.000693142	6	415					T	111585122	G	T	111585122	3	4	125	1	0	0	0	0	1	0	0	0	8292	1116	39	3	296	3	KIAA1919	6	111585122	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	9318774	111585122	59529945	73	38809											
KIAA0408	9729	broad.mit.edu	37	chr6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-													ttccttgcttcacttcctgtCccccccacacagctgtcttt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										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)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236	227	230					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	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.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	994						7	994	---	---	---	---	-	127767596	C	-	127767596	7	5	125	1	0	1	0	1	0	0	0	0	8204	855	30	0	224	0	KIAA0408	6	127767596	Frame_Shift_Del	DEL	C	TCGA-YY-A8LH-01A-11D-A36O-08	16182474	127767596	43347471	74	38810											
PLEKHG1	57480	broad.mit.edu	37	chr6	151121938	151121938	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tcaggaaactctgaaacactCgctgcctctggggtcctatc	9	13	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:151121938C>A	ENST00000358517.2	+	6	924	c.713C>A	c.(712-714)tCg>tAg	p.S238*	PLEKHG1_ENST00000367328.1_Nonsense_Mutation_p.S238*			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	238	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGAAACACTCGCTGCCTCTG	0.498																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(712-714)tCg>tAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							122	120	120					6																	151121938		2203	4300	6503	SO:0001587	stop_gained	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121938C>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.713C>A	6.37:g.151121938C>A	ENSP00000351318:p.Ser238*					PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.S238*	p.S238*	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	1025	+			238			DH.		Q5T1F2	Nonsense_Mutation	SNP	ENST00000358517.2	37	c.713C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	39	7.723855	0.98453	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	6.16	5.3	0.74995	.	0.053244	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4253	0.75045	0.0:0.934:0.0:0.066	.	.	.	.	X	238	.	ENSP00000351318:S238X	S	+	2	0	PLEKHG1	151163631	1.000000	0.71417	0.837000	0.33122	0.491000	0.33493	7.818000	0.86416	1.623000	0.50342	0.650000	0.86243	TCG		0.498	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			6	332	1	0	0.00116845	0.00116845	0.00486239	6	332					A	151121938	C	A	151121938	4	1	125	1	0	0	0	0	0	1	0	0	12110	893	31	3	731	3	PLEKHG1	6	151121938	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	23354342	151121938	19993129	75	38811											
LPA	4018	broad.mit.edu	37	chr6	161020546	161020546	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	acgtacgcatttgggtagttTtctggggtccgactatgctg	13	8	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:161020546T>G	ENST00000316300.5	-	20	3317	c.3273A>C	c.(3271-3273)gaA>gaC	p.E1091D	LPA_ENST00000447678.1_Missense_Mutation_p.E1091D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3599	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTGGGTAGTTTTCTGGGGTCC	0.483																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3271-3273)gaA>gaC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						307	333	324					6																	161020546		2201	4300	6501	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020546T>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3273A>C	6.37:g.161020546T>G	ENSP00000321334:p.Glu1091Asp					LPA_ENST00000316300.5_Missense_Mutation_p.E1091D	p.E1091D	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3393	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3599			Kringle 10.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3273A>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	8.354	0.831520	0.16820	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.68025	-0.3;-0.3	2.48	-2.05	0.07321	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.31009	0.0783	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.31751	0.135	T	0.39683	-0.9602	9	0.30078	T	0.28	.	2.9399	0.05826	0.0:0.3134:0.2443:0.4423	.	3599	P08519	APOA_HUMAN	D	1091	ENSP00000321334:E1091D;ENSP00000395608:E1091D	ENSP00000321334:E1091D	E	-	3	2	LPA	160940536	0.000000	0.05858	0.013000	0.15412	0.003000	0.03518	-0.976000	0.03786	-0.618000	0.05656	-0.782000	0.03352	GAA		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		8	1203	0	0	0	0.000157383	0	8	1203					G	161020546	T	G	161020546	3	3	125	1	0	0	0	0	1	0	0	0	8941	1838	64	4	2929	4	LPA	6	161020546	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	9898608	161020546	10094521	76	38812											
ZFAND2A	90637	broad.mit.edu	37	chr7	1195168	1195168	+	Frame_Shift_Del	DEL	T	T	-													ccacgtctggtatctggcccTtttttactgggatgggggta							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:1195168delT	ENST00000316495.3	-	4	462	c.203delA	c.(202-204)aagfs	p.K68fs	ZFAND2A_ENST00000401903.1_Frame_Shift_Del_p.K68fs	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	68					cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		TATCTGGCCCTTTTTTACTGG	0.473																																						ENST00000401903.1																			0				lung(2)|ovary(1)	3						c.(202-204)agfs		zinc finger, AN1-type domain 2A							174	163	167					7																	1195168		2203	4300	6503	SO:0001589	frameshift_variant	90637					cytoplasm|nucleus	zinc ion binding	g.chr7:1195168delT	BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"Zinc fingers, AN1-type domain containing"	28073	protein-coding gene	gene with protein product	"arsenite inducible RNA associated protein"	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.203delA	7.37:g.1195168delT	ENSP00000314619:p.Lys68fs					ZFAND2A_ENST00000316495.3_Frame_Shift_Del_p.K68fs	p.K68fs			Q8N6M9	ZFN2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)	4	462	-		Ovarian(82;0.11)	68					A4D220	Frame_Shift_Del	DEL	ENST00000316495.3	37	c.203delA	CCDS5323.1																																																																																				0.473	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239220.2	NM_182491		7	865						7	865	---	---	---	---	-	1195168	T	-	1195168	7	5	125	1	0	1	0	1	0	0	0	0	17680	1609	56	0	242	0	ZFAND2A	7	1195168	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08		1195168	157943495	77	38813											
NDUFA4	4697	broad.mit.edu	37	chr7	10979646	10979646	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	agcggtcacgaacttacgctCggatgcttcttggcctgacc	11	13	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:10979646C>A	ENST00000339600.5	-	1	237	c.39G>T	c.(37-39)ccG>ccT	p.P13P	RP5-855F16.1_ENST00000604183.1_lincRNA|NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	13					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)		AACTTACGCTCGGATGCTTCT	0.567																																						ENST00000339600.5																			0				large_intestine(2)|lung(1)	3						c.(37-39)ccG>ccT		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	NADH(DB00157)						213	187	196					7																	10979646		2203	4300	6503	SO:0001819	synonymous_variant	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10979646C>A	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.39G>T	7.37:g.10979646C>A						NDUFA4_ENST00000492822.1_5'UTR	p.P13P	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	1	237	-			13					A4D109|Q6FHN5	Silent	SNP	ENST00000339600.5	37	c.39G>T	CCDS5357.1																																																																																				0.567	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489		11	913	1	0	0.000157383	0.000157383	0.000693142	11	913					A	10979646	C	A	10979646	2	1	125	1	0	0	0	0	0	0	0	1	10308	871	31	3		3	NDUFA4	7	10979646	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	9784478	10979646	148159017	78	38814											
HDAC9	9734	broad.mit.edu	37	chr7	18767353	18767353	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tacctcacccagcaatggacCgccccctccagcctggctct	7	20	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:18767353C>A	ENST00000432645.2	+	12	1873	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000406451.4_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	625					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)	AGCAATGGACCGCCCCCTCCA	0.527																																						ENST00000406451.3																			0				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						c.(1873-1875)Cgc>Agc		histone deacetylase 9	Valproic Acid(DB00313)						41	46	44					7																	18767353		1988	4143	6131	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767353C>A	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.1873C>A	7.37:g.18767353C>A	ENSP00000410337:p.Arg625Ser					HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000432645.2_Missense_Mutation_p.R625S|HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S	p.R625S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			13	2023	+	all_lung(11;0.187)		625					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1873C>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	5.499	0.276989	0.10403	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.57107	0.43;0.42;0.42;0.43	4.87	1.44	0.22558	.	0.387462	0.22358	N	0.061105	T	0.35537	0.0935	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B;B	0.19817	0.001;0.01;0.034;0.01;0.02;0.01;0.039	B;B;B;B;B;B;B	0.17979	0.003;0.01;0.018;0.018;0.008;0.018;0.02	T	0.10337	-1.0634	10	0.09338	T	0.73	-24.6513	9.38	0.38306	0.0:0.7311:0.0:0.2689	.	625;537;584;628;625;625;603	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	S	625;584;625;628;537	ENSP00000384657:R625S;ENSP00000383912:R584S;ENSP00000410337:R625S;ENSP00000408617:R628S	ENSP00000339165:R537S	R	+	1	0	HDAC9	18733878	1.000000	0.71417	0.829000	0.32907	0.991000	0.79684	1.096000	0.30976	0.150000	0.19136	0.557000	0.71058	CGC		0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	135	1	0	3.59834e-05	0.00116845	0.000163941	5	135					A	18767353	C	A	18767353	3	1	125	1	0	0	0	0	1	0	0	0	7044	652	23	3	1979	3	HDAC9	7	18767353	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	7787707	18767353	140371310	79	38815											
FAM188B	84182	broad.mit.edu	37	chr7	30825421	30825421	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tgtatcatctaaaaggccccCgcacaaaagtaagcccatgc	7	13	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:30825421C>A	ENST00000265299.6	+	4	553	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	159										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAAGGCCCCCGCACAAAAGT	0.448																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(475-477)cCg>cAg		family with sequence similarity 188, member B							99	104	102					7																	30825421		1846	4097	5943	SO:0001583	missense	84182							g.chr7:30825421C>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.476C>A	7.37:g.30825421C>A	ENSP00000265299:p.Pro159Gln					INMT-FAM188B_ENST00000458257.1_3'UTR	p.P159Q	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			4	553	+			159					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.476C>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251521	0.05867	.	.	ENSG00000106125	ENST00000265299	T	0.23552	1.9	5.19	2.32	0.28847	.	0.790451	0.11983	N	0.510580	T	0.16642	0.0400	L	0.41236	1.265	0.09310	N	1	P	0.34955	0.477	B	0.24701	0.055	T	0.19943	-1.0290	10	0.87932	D	0	-7.9428	4.8572	0.13564	0.1701:0.6496:0.0:0.1803	.	159	Q4G0A6	F188B_HUMAN	Q	159	ENSP00000265299:P159Q	ENSP00000265299:P159Q	P	+	2	0	FAM188B	30791946	0.001000	0.12720	0.104000	0.21259	0.172000	0.22775	1.070000	0.30653	0.762000	0.33152	0.650000	0.86243	CCG		0.448	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		9	680	1	0	2.17888e-05	0.000442599	9.97001e-05	9	680					A	30825421	C	A	30825421	3	1	125	1	0	0	0	0	1	0	0	0	5536	652	23	3	490	3	FAM188B	7	30825421	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	12058068	30825421	128313242	80	38816											
ANLN	54443	broad.mit.edu	37	chr7	36489379	36489379	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cttttgaattaattactgtcCgaccacaaagagaagatgac	7	8	0	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:36489379C>A	ENST00000265748.2	+	23	3405	c.3184C>A	c.(3184-3186)Cga>Aga	p.R1062R	ANLN_ENST00000396068.2_Silent_p.R1025R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1062	Localization to the cleavage furrow.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						AATTACTGTCCGACCACAAAG	0.408																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(3184-3186)Cga>Aga		anillin, actin binding protein							96	92	93					7																	36489379		2203	4300	6503	SO:0001819	synonymous_variant	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36489379C>A	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.3184C>A	7.37:g.36489379C>A						ANLN_ENST00000396068.2_Silent_p.R1025R	p.R1062R	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			23	3405	+			1062			Localization to the cleavage furrow.|PH.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Silent	SNP	ENST00000265748.2	37	c.3184C>A	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348424	0.24426	.	.	ENSG00000011426	ENST00000428612	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.74596	0.3737	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73065	-0.4100	4	.	.	.	-10.8384	18.3032	0.90171	0.0:1.0:0.0:0.0	.	.	.	.	Q	226	.	.	P	+	2	0	ANLN	36455904	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	1.405000	0.34635	2.577000	0.86979	0.655000	0.94253	CCG		0.408	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		7	565	1	0	0.00198382	0.00198382	0.00809612	7	565					A	36489379	C	A	36489379	2	1	125	1	0	0	0	0	0	0	0	1	694	644	23	3		3	ANLN	7	36489379	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5663958	36489379	122649284	81	38817											
GLI3	2737	broad.mit.edu	37	chr7	42116379	42116379	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaggaatcggagatggatCgtaatggtaacggccctcat	14	7	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:42116379C>T	ENST00000395925.3	-	4	529	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	149					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						GGAGATGGATCGTAATGGTAA	0.433									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(445-447)Gat>Aat		GLI family zinc finger 3							167	142	150					7																	42116379		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42116379C>T		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.445G>A	7.37:g.42116379C>T	ENSP00000379258:p.Asp149Asn					GLI3_ENST00000479210.1_5'UTR	p.D149N	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			4	529	-			149					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.445G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070585	0.93950	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T;T	0.69561	-0.41;-0.41	5.65	5.65	0.86999	.	0.099090	0.64402	D	0.000003	T	0.72510	0.3469	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.57960	0.83	T	0.74411	-0.3674	10	0.72032	D	0.01	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	149	P10071	GLI3_HUMAN	N	149	ENSP00000379258:D149N;ENSP00000406135:D149N	ENSP00000379258:D149N	D	-	1	0	GLI3	42082904	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.252000	0.78309	2.817000	0.96982	0.563000	0.77884	GAT		0.433	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	359	0	0	0	0.000673444	0	8	359					T	42116379	C	T	42116379	3	4	125	1	0	0	0	0	1	0	0	0	6468	884	31	1	4345	1	GLI3	7	42116379	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5627000	42116379	117022284	82	38818											
ABCA13	154664	broad.mit.edu	37	chr7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	catgcaagatttatttaatgCccttctcagggaaacttcaa	6	9	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2368					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						TTATTTAATGCCCTTCTCAGG	0.308																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(7102-7104)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 13							40	40	40					7																	48317894		1803	4069	5872	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48317894C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.7103C>T	7.37:g.48317894C>T	ENSP00000411096:p.Ala2368Val						p.A2368V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	7127	+			2368					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.7103C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC		0.308	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		28	154	0	0	0	0.00106085	0	28	154					T	48317894	C	T	48317894	3	4	125	1	0	0	0	0	1	0	0	0	31	739	26	2	7002	2	ABCA13	7	48317894	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	6201515	48317894	110820769	83	38819											
KCTD7	154881	broad.mit.edu	37	chr7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtggagatcgcccggctgcGtgcggtccagcggaaggccc	17	13	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:66103879G>A	ENST00000275532.3	+	4	714	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	177					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R177H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCCGGCTGCGTGCGGTCCAG	0.577																																						ENST00000275532.3																			1	Substitution - Missense(1)	p.R177H(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(529-531)cGt>cAt		potassium channel tetramerization domain containing 7							62	63	63					7																	66103879		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103879G>A	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.530G>A	7.37:g.66103879G>A	ENSP00000275532:p.Arg177His					KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			4	714	+			177					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.530G>A	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320885	0.95682	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.79033	-1.23;-1.23	5.36	5.36	0.76844	.	.	.	.	.	T	0.79411	0.4441	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.51170	0.661	T	0.80476	-0.1366	9	0.52906	T	0.07	.	18.4294	0.90620	0.0:0.0:1.0:0.0	.	177	Q96MP8	KCTD7_HUMAN	H	177	ENSP00000275532:R177H;ENSP00000411624:R177H	ENSP00000275532:R177H	R	+	2	0	KCTD7	65741314	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	9.097000	0.94193	2.675000	0.91044	0.655000	0.94253	CGT		0.577	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		5	250	0	0	0	0.00116845	0	5	250					A	66103879	G	A	66103879	3	1	125	1	0	0	0	0	1	0	0	0	8144	1145	40	1	544	1	KCTD7	7	66103879	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	17785985	66103879	93034784	84	38820											
SAMD9L	219285	broad.mit.edu	37	chr7	92764937	92764937	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ggatcataatcaatattagaTgacattgaattttcttcttc	5	6	4	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:92764937T>C	ENST00000318238.4	-	5	1564	c.348A>G	c.(346-348)tcA>tcG	p.S116S	SAMD9L_ENST00000411955.1_Silent_p.S116S|SAMD9L_ENST00000437805.1_Silent_p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	116					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)			CAATATTAGATGACATTGAAT	0.323																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(346-348)tcA>tcG		sterile alpha motif domain containing 9-like							107	118	114					7																	92764937		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92764937T>C	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.348A>G	7.37:g.92764937T>C						SAMD9L_ENST00000437805.1_Silent_p.S116S|SAMD9L_ENST00000411955.1_Silent_p.S116S	p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1564	-	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)		116					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.348A>G	CCDS34681.1																																																																																				0.323	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		131	286	0	0	0	0.000781405	0	131	286					C	92764937	T	C	92764937	2	2	125	1	0	0	0	0	0	0	0	1	13877	1451	51	4		4	SAMD9L	7	92764937	Silent	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	26661058	92764937	66373726	85	38821											
COL1A2	1278	broad.mit.edu	37	chr7	94039063	94039063	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cggcgttgctggggctcccgGcctccctggaccccgcggta	15	17	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:94039063G>A	ENST00000297268.6	+	19	1436	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	322					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)	GGGGCTCCCGGCCTCCCTGGA	0.577										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(964-966)gGc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						98	101	100					7																	94039063		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039063G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.965G>A	7.37:g.94039063G>A	ENSP00000297268:p.Gly322Asp	HNSCC(75;0.22)					p.G322D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1436	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		322					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.965G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335985	0.81801	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97235	0.9887	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	322	P08123	CO1A2_HUMAN	D	322;323	ENSP00000297268:G322D	ENSP00000297268:G322D	G	+	2	0	COL1A2	93876999	1.000000	0.71417	0.985000	0.45067	0.772000	0.43724	9.439000	0.97543	2.802000	0.96397	0.655000	0.94253	GGC		0.577	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		25	301	0	0	0	0.000720815	0	25	301					A	94039063	G	A	94039063	3	1	125	1	0	0	0	0	1	0	0	0	3687	1203	42	2	1039	2	COL1A2	7	94039063	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1274126	94039063	65099600	86	38822											
GNB2	2783	broad.mit.edu	37	chr7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgtactcccatgacaAcatcatctgtggcatcacct	5	15	4	1	rs147810006		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	268					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)				TCCCATGACAACATCATCTGT	0.607																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(802-804)aAc>aTc		guanine nucleotide binding protein (G protein), beta polypeptide 2		A	ILE/ASN	0,4406		0,0,2203	60	60	60		803	4.4	1	7	dbSNP_134	60	2,8598		0,2,4298	no	missense	GNB2	NM_005273.3	149	0,2,6501	TT,TA,AA		0.0233,0.0,0.0154	possibly-damaging	268/341	100276124	2,13004	2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276124A>T	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.803A>T	7.37:g.100276124A>T	ENSP00000305260:p.Asn268Ile					GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000393926.1_Missense_Mutation_p.N268I	p.N268I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			9	1285	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	268					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.803A>T	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.125242	0.77436	0.0	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;D;D;D;D;T;T	0.82619	5.0;-1.63;-1.63;-1.63;-1.63;5.0;5.0	5.67	4.45	0.53987	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	0.85952	0.5817	M	0.75264	2.295	0.58432	D	0.999996	B	0.32409	0.37	P	0.44732	0.459	D	0.86865	0.2032	10	0.72032	D	0.01	-11.881	10.667	0.45736	0.8397:0.1603:0.0:0.0	.	268	P62879	GBB2_HUMAN	I	268;224;224;168;168;268;268	ENSP00000305260:N268I;ENSP00000401873:N224I;ENSP00000389391:N224I;ENSP00000390543:N168I;ENSP00000400286:N168I;ENSP00000377503:N268I;ENSP00000377501:N268I	ENSP00000305260:N268I	N	+	2	0	GNB2	100114060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.846000	0.39289	2.174000	0.68829	0.454000	0.30748	AAC		0.607	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		42	144	0	0	0	0.00195071	0	42	144					T	100276124	A	T	100276124	3	4	125	1	0	0	0	0	1	0	0	0	6546	43	2	5	833	5	GNB2	7	100276124	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	6237061	100276124	58862539	87	38823											
RELN	5649	broad.mit.edu	37	chr7	103180786	103180786	+	Frame_Shift_Del	DEL	T	T	-													tggaattgctgaaaaggaacTcctgaagaagactccacgag							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:103180786delT	ENST00000428762.1	-	44	6947	c.6788delA	c.(6787-6789)gagfs	p.E2263fs	RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs|RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2263					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)		GAAAAGGAACTCCTGAAGAAG	0.542																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6787-6789)ggfs		reelin							103	100	101					7																	103180786		2203	4300	6503	SO:0001589	frameshift_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103180786delT		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.6788delA	7.37:g.103180786delT	ENSP00000392423:p.Glu2263fs					RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs	p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	44	6947	-			2263					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Del	DEL	ENST00000428762.1	37	c.6788delA	CCDS47680.1																																																																																				0.542	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		40	379						40	379	---	---	---	---	-	103180786	T	-	103180786	7	5	125	1	0	1	0	1	0	0	0	0	13270	1551	54	0	3682	0	RELN	7	103180786	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08	2904662	103180786	55957877	88	38824											
EXOC4	60412	broad.mit.edu	37	chr7	133160181	133160181	+	Frame_Shift_Del	DEL	T	T	-													ctggacgagagtttgcagccTtttttgccaagaagaaacct							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:133160181delT	ENST00000253861.4	+	8	1311	c.1282delT	c.(1282-1284)tttfs	p.F429fs	EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	429					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)				GTTTGCAGCCTTTTTTGCCAA	0.378																																						ENST00000253861.4																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1282-1284)ttfs		exocyst complex component 4							123	127	126					7																	133160181		2203	4300	6503	SO:0001589	frameshift_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133160181delT	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.1282delT	7.37:g.133160181delT	ENSP00000253861:p.Phe429fs					EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs	p.F429fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			8	1311	+		Esophageal squamous(399;0.129)	429					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Frame_Shift_Del	DEL	ENST00000253861.4	37	c.1282delT	CCDS5829.1																																																																																				0.378	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		9	978						9	978	---	---	---	---	-	133160181	T	-	133160181	7	5	125	1	0	1	0	1	0	0	0	0	5324	1609	56	0	1312	0	EXOC4	7	133160181	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08	29979395	133160181	25978482	89	38825											
SSPO	23145	broad.mit.edu	37	chr7	149503953	149503953	+	RNA	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	gggcttctgcgcccccggctGcacctgcccccctggtcttt	11	19	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:149503953G>T	ENST00000378016.2	+	0	8777							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)			GCCCCCGGCTGCACCTGCCCC	0.657																																						ENST00000378016.2																			0													SCO-spondin							22	30	27					7																	149503953		1923	4114	6037			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149503953G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149503953G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8777	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	74	1	0	1.10513e-12	0.00229938	5.45853e-12	20	74					T	149503953	G	T	149503953	1	4	125	0	1	0	0	0	0	0	0	0	15241	1306	46	3		3	SSPO	7	149503953	RNA	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	16343772	149503953	9634710	90	38826											
AMAC1L2	83650	broad.mit.edu	37	chr8	11188791	11188791	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cttcgtgggccccctttctcGtatggcttaccagggttcca	10	14	1	0	rs370522572		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11188791G>A	ENST00000382435.4	+	1	395	c.176G>A	c.(175-177)cGt>cAt	p.R59H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	59	EamA 1.					integral component of membrane (GO:0016021)											CCCCTTTCTCGTATGGCTTAC	0.647																																						ENST00000382435.4																			0											c.(175-177)cGt>cAt		solute carrier family 35, member G5		G	HIS/ARG	0,4406		0,0,2203	111	109	110		176	0.3	0.9	8		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35G5	NM_054028.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	59/339	11188791	1,13005	2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11188791G>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.176G>A	8.37:g.11188791G>A	ENSP00000371872:p.Arg59His						p.R59H	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	395	+			59			DUF6 1.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.176G>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814400	0.32053	0.0	1.16E-4	ENSG00000177710	ENST00000382435	T	0.54279	0.58	0.34	0.34	0.15985	.	0.000000	0.45867	D	0.000330	T	0.35068	0.0919	L	0.32530	0.975	0.41837	D	0.990104	B	0.12013	0.005	B	0.14023	0.01	T	0.10451	-1.0629	10	0.41790	T	0.15	-1.8351	6.5344	0.22344	2.0E-4:0.0:0.9998:0.0	.	59	Q96KT7	S35G5_HUMAN	H	59	ENSP00000371872:R59H	ENSP00000371872:R59H	R	+	2	0	SLC35G5	11226201	0.908000	0.30866	0.916000	0.36221	0.263000	0.26337	3.696000	0.54757	0.426000	0.26116	0.089000	0.15464	CGT		0.647	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		8	434	0	0	0	0.000442599	0	8	434					A	11188791	G	A	11188791	3	1	125	1	0	0	0	0	1	0	0	0	560	1145	40	1	178	1	AMAC1L2	8	11188791	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		11188791	135175231	91	38827											
USP17L2	377630	broad.mit.edu	37	chr8	11995011	11995011	+	Nonsense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttccaccaagcgctcgtccAactcgggtgcctggaggcag	12	14	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11995011A>T	ENST00000333796.3	-	1	1575	c.1259T>A	c.(1258-1260)tTg>tAg	p.L420*	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	420	Mediates interaction with SUDS3.				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						GCGCTCGTCCAACTCGGGTGC	0.567																																						ENST00000333796.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1258-1260)tTg>tAg		ubiquitin specific peptidase 17-like family member 2							59	64	62					8																	11995011		1603	3597	5200	SO:0001587	stop_gained	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995011A>T	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.1259T>A	8.37:g.11995011A>T	ENSP00000333329:p.Leu420*					FAM66D_ENST00000434078.2_RNA	p.L420*	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			1	1575	-			420						Nonsense_Mutation	SNP	ENST00000333796.3	37	c.1259T>A	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836544	0.71373	.	.	ENSG00000223443	ENST00000333796	.	.	.	0.36	-0.721	0.11189	.	0.944627	0.08527	U	0.932543	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	.	.	.	.	.	.	.	X	420	.	ENSP00000333329:L420X	L	-	2	0	USP17L2	12032420	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.011000	0.12721	-0.718000	0.04949	-0.731000	0.03576	TTG		0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		23	408	0	0	0	0.00278032	0	23	408					T	11995011	A	T	11995011	4	4	125	1	0	0	0	0	0	1	0	0	17102	131	5	5	337	5	USP17L2	8	11995011	Nonsense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	806220	11995011	134369011	92	38828											
BMP1	649	broad.mit.edu	37	chr8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agttcaagtccgacaacaccGtgtccaaaaagggcttcaag	9	11	2	0	rs200401797		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:22054897G>A	ENST00000306385.5	+	15	2741	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.V691M|BMP1_ENST00000397816.3_Missense_Mutation_p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	691	CUB 3. {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)		CGACAACACCGTGTCCAAAAA	0.567																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2071-2073)Gtg>Atg		bone morphogenetic protein 1		G	MET/VAL,MET/VAL	0,4406		0,0,2203	236	214	222		2071,2071	5.3	1	8		222	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BMP1	NM_001199.3,NM_006129.4	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	691/731,691/987	22054897	1,13005	2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22054897G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2071G>A	8.37:g.22054897G>A	ENSP00000305714:p.Val691Met					BMP1_ENST00000397816.3_Missense_Mutation_p.V691M|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.V691M	p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	15	2741	+			691			CUB 3.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2071G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895680	0.91962	0.0	1.16E-4	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.30981	1.51;1.51;1.51	5.29	5.29	0.74685	CUB (5);	0.000000	0.34853	U	0.003625	T	0.58836	0.2150	M	0.79343	2.45	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;0.993	T	0.63346	-0.6658	10	0.72032	D	0.01	.	17.6986	0.88289	0.0:0.0:1.0:0.0	.	691;764;691;691	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	M	691	ENSP00000305714:V691M;ENSP00000380917:V691M;ENSP00000306121:V691M	ENSP00000306121:V691M	V	+	1	0	BMP1	22110842	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.451000	0.82905	0.563000	0.77884	GTG		0.567	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		22	673	0	0	0	0.00047179	0	22	673					A	22054897	G	A	22054897	3	1	125	1	0	0	0	0	1	0	0	0	1458	1145	40	1	2129	1	BMP1	8	22054897	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	10059886	22054897	124309125	93	38829											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-													aaatctgggtcttcctactaAagaagaagaagaagatgatg					rs555283914	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0.0	0.0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"Mis, N, F, S"	Werner syndrome (RECQL2)			"L, E, M, O"		"osteosarcoma, meningioma, others"			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1516-1521)aaa>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001651	inframe_deletion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30945377_30945379delAAG		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del						p.KE506del	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	12	1766_1768	+		Breast(100;0.195)	506					A1KYY9	In_Frame_Del	DEL	ENST00000298139.5	37	c.1517_1519delAAG	CCDS6082.1																																																																																				0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			9	370						9	370	---	---	---	---	-	30945379	AAG	-	30945377	7	5	125	1	0	1	0	1	0	0	0	0	17456	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-YY-A8LH-01A-11D-A36O-08	8890480	30945377	115418645	94	38830											
OPRK1	4986	broad.mit.edu	37	chr8	54142191	54142191	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggaccagtctggtgatcctaCgcaggttgcgatctttctct	11	11	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:54142191C>T	ENST00000265572.3	-	4	1106	c.809G>A	c.(808-810)cGt>cAt	p.R270H	OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	270					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGTGATCCTACGCAGGTTGCG	0.572																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(808-810)cGt>cAt		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						78	83	81					8																	54142191		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142191C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.809G>A	8.37:g.54142191C>T	ENSP00000265572:p.Arg270His					RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	p.R270H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	1106	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	270					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.809G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017222	0.54576	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.73681	-0.77;-0.77;-0.77	5.8	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.047781	0.85682	D	0.000000	D	0.87176	0.6112	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89336	0.3650	10	0.87932	D	0	.	16.2563	0.82519	0.1338:0.8662:0.0:0.0	.	270	P41145	OPRK_HUMAN	H	270;181;270;256	ENSP00000265572:R270H;ENSP00000430923:R181H;ENSP00000429706:R270H	ENSP00000265572:R270H	R	-	2	0	OPRK1	54304744	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	7.818000	0.86416	1.433000	0.47394	-0.188000	0.12872	CGT		0.572	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			7	179	0	0	0	0.000157383	0	7	179					T	54142191	C	T	54142191	3	4	125	1	0	0	0	0	1	0	0	0	10927	536	19	1	337	1	OPRK1	8	54142191	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	23196814	54142191	92221831	95	38831											
CYP11B1	1584	broad.mit.edu	37	chr8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcggccaggctctcctggcGcagggcctgctgcacgttgg	17	14	1	0	rs372115638		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	GRCh37	HM972176	CYP11B1	M		c.(1021-1023)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	78	80	79		1021,1021	2.2	1	8		79	1,8599		0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/504,341/438	143957228	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957228G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1021C>T	8.37:g.143957228G>A	ENSP00000292427:p.Arg341Cys					CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			6	1053	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		341					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1021C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	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;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			43	522	0	0	0	0.000781405	0	43	522					A	143957228	G	A	143957228	3	1	125	1	0	0	0	0	1	0	0	0	4156	1087	38	1	506	1	CYP11B1	8	143957228	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	89815037	143957228	2406794	96	38832											
PLEC	5339	broad.mit.edu	37	chr8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgcacagagcgctcacctcGctgcagctgctggtagagct	12	14	1	2	rs137853161		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	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						CGCTCACCTCGCTGCAGCTGC	0.687																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137	GRCh37	CM050309	PLEC	M	rs137853161	c.(9415-9417)Cga>Tga		plectin							20	24	22					8																	144994985		2052	4156	6208	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994985G>A	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.9415C>T	8.37:g.144994985G>A	ENSP00000323856:p.Arg3139*					PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*	p.R3139*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9584	-			3139			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.9415C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.377758	0.99832	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.6	3.71	0.42584	.	0.750881	0.11464	U	0.561429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.7863	0.63112	0.0:0.1557:0.8443:0.0	.	.	.	.	X	3002;3006;3002;2970;3139;2980;2988;3029;3025	.	ENSP00000323856:R3139X	R	-	1	2	PLEC	145066973	0.864000	0.29904	0.748000	0.31131	0.005000	0.04900	2.894000	0.48640	1.042000	0.40150	0.448000	0.29417	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		13	207	0	0	0	0.00136819	0	13	207					A	144994985	G	A	144994985	4	1	125	1	0	0	0	0	0	1	0	0	12094	1095	38	1	4643	1	PLEC	8	144994985	Nonsense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1037757	144994985	1369037	97	38833											
C9orf68	55064	broad.mit.edu	37	chr9	4618865	4618865	+	Splice_Site	DEL	T	T	-													attctacttctaaaattaccTttacgttagctgcaaggctg							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:4618865delT	ENST00000454239.2	-	9	1051	c.806delA	c.(805-807)aag>ag	p.K269fs	SPATA6L_ENST00000475086.1_Splice_Site_p.K211fs|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Splice_Site_p.K146fs			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	269																	TAAAATTACCTTTACGTTAGC	0.333																																						ENST00000454239.2																			0											c.e9+1		spermatogenesis associated 6-like							68	64	65					9																	4618865		1836	4087	5923	SO:0001630	splice_region_variant	55064							g.chr9:4618865delT	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.807+1A>-	9.37:g.4618865delT						SPATA6L_ENST00000381895.5_Splice_Site_p.K146_splice|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Splice_Site_p.K211_splice	p.K269_splice			B4DIY4	B4DIY4_HUMAN			9	1051	-			211					B4DIY4|Q5JVJ5|Q8IY90	Splice_Site	DEL	ENST00000454239.2	37	c.807_splice																																																																																					0.333	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985	Frame_Shift_Del	24	104						24	104	---	---	---	---	-	4618865	T	-	4618865	8	5	125	1	0	1	0	1	0	0	1	0	2498	1623	56	0	388	0	C9orf68	9	4618865	Splice_Site	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08		4618865	136594566	98	38834											
C9orf72	203228	broad.mit.edu	37	chr9	27567059	27567059	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gctaataaaggtgatttgccActtaaagcaatctctgtctt	7	8	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:27567059A>T	ENST00000380003.3	-	2	123	c.60T>A	c.(58-60)agT>agA	p.S20R	C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	20					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GTGATTTGCCACTTAAAGCAA	0.458																																						ENST00000380003.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23						c.(58-60)agT>agA		chromosome 9 open reading frame 72							81	76	78					9																	27567059		2203	4300	6503	SO:0001583	missense	203228							g.chr9:27567059A>T	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.60T>A	9.37:g.27567059A>T	ENSP00000369339:p.Ser20Arg					C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R|C9orf72_ENST00000488117.1_5'UTR	p.S20R	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	2	123	-		all_neural(11;7.57e-10)	20					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	ENST00000380003.3	37	c.60T>A	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242614	0.39598	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.44083	0.93;0.93;0.93	5.99	5.99	0.97316	.	0.225686	0.53938	D	0.000046	T	0.22859	0.0552	N	0.08118	0	0.33621	D	0.604779	B;B	0.16603	0.018;0.011	B;B	0.18871	0.023;0.003	T	0.32587	-0.9901	9	.	.	.	.	11.5134	0.50507	0.931:0.0:0.069:0.0	.	20;20	Q96LT7-2;Q96LT7	.;CI072_HUMAN	R	20	ENSP00000369339:S20R;ENSP00000369333:S20R;ENSP00000369331:S20R	.	S	-	3	2	C9orf72	27557059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.511000	0.35801	2.291000	0.77112	0.533000	0.62120	AGT		0.458	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	NM_018325		5	300	0	0	0	0.000602214	0	5	300					T	27567059	A	T	27567059	3	4	125	1	0	0	0	0	1	0	0	0	2502	156	6	5	1429	5	C9orf72	9	27567059	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	22948194	27567059	113646372	99	38835											
OR2K2	26248	broad.mit.edu	37	chr9	114090184	114090184	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gcaccgccagaatttcacacGtgaagtgatcgatgagattc	10	10	1	4	rs137871340	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:114090184G>A	ENST00000374428.1	-	1	616	c.617C>T	c.(616-618)aCg>aTg	p.T206M	OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	206						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						AATTTCACACGTGAAGTGATC	0.517													G|||	4	0.000798722	0.0	0.0	5008	,	,		21515	0.004		0.0	False		,,,				2504	0.0					ENST00000374428.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						c.(616-618)aCg>aTg		olfactory receptor, family 2, subfamily K, member 2							81	75	77					9																	114090184		2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090184G>A	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.617C>T	9.37:g.114090184G>A	ENSP00000363550:p.Thr206Met					OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M	p.T206M			Q8NGT1	OR2K2_HUMAN			1	616	-			206					Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.617C>T		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.211	0.595400	0.13875	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00084	8.75;8.75	4.92	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000834	T	0.00144	0.0004	L	0.31926	0.97	0.18873	N	0.999982	D	0.89917	1.0	D	0.70716	0.97	T	0.52975	-0.8503	10	0.62326	D	0.03	.	3.5372	0.07798	0.2438:0.0:0.4545:0.3016	.	206	Q8NGT1	OR2K2_HUMAN	M	177;206	ENSP00000305055:T177M;ENSP00000363550:T206M	ENSP00000305055:T177M	T	-	2	0	OR2K2	113130005	0.000000	0.05858	0.023000	0.16930	0.086000	0.17979	0.148000	0.16224	0.096000	0.17463	-0.194000	0.12790	ACG		0.517	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859		9	205	0	0	0	0.000442599	0	9	205					A	114090184	G	A	114090184	3	1	125	1	0	0	0	0	1	0	0	0	11047	1145	40	1	423	1	OR2K2	9	114090184	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	86523125	114090184	27123247	100	38836											
ASS1	445	broad.mit.edu	37	chr9	133355188	133355188	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	atgtacctgaacgaagtcgcGtgagtgtctgcagccctgtc	12	11	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:133355188G>A	ENST00000372394.1	+	11	1254		c.e11+1		ASS1_ENST00000372393.3_Splice_Site|ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000352480.5_Splice_Site			P00966	ASSY_HUMAN	argininosuccinate synthase 1						acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACGAAGTCGCGTGAGTGTCTG	0.617																																						ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.e11+1		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						71	62	65					9																	133355188		2203	4300	6503	SO:0001630	splice_region_variant	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133355188G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.773+1G>A	9.37:g.133355188G>A						ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000372393.3_Splice_Site|ASS1_ENST00000352480.5_Splice_Site				P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	11	1254	+								Q6LDL2|Q86UZ0|Q96GT4	Splice_Site	SNP	ENST00000372394.1	37		CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686809	0.14973	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0774	0.86590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASS1	132345009	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	8.569000	0.90744	2.270000	0.75569	0.467000	0.42956	.		0.617	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050	Intron	16	178	0	0	0	0.000308642	0	16	178					A	133355188	G	A	133355188	5	1	125	1	0	0	0	0	0	0	1	0	1062	1159	40	1	808	1	ASS1	9	133355188	Splice_Site	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	19265004	133355188	7858243	101	38837											
RBP3	5949	broad.mit.edu	37	chr10	48388910	48388910	+	Silent	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	agggcactggtctgccccacGacctctggccgagcatagtg	13	14	2	0	rs545131365		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	656	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		17624	0.001		0.0	False		,,,				2504	0.0					ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1966-1968)gtC>gtT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						17	19	18					10																	48388910		2198	4286	6484	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388910G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1968C>T	10.37:g.48388910G>A							p.V656V	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2081	-			656			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1968C>T	CCDS7218.1																																																																																				0.662	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		16	90	0	0	0	0.000308642	0	16	90					A	48388910	G	A	48388910	2	1	125	1	0	0	0	0	0	0	0	1	13207	1045	37	1		1	RBP3	10	48388910	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		48388910	87145837	102	38838											
C10orf53	282966	broad.mit.edu	37	chr10	50916592	50916592	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	atttccaaaccaatctttgtGacctgggttggccaggcctg	10	11	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:50916592G>A	ENST00000374112.3	+	3	415	c.403G>A	c.(403-405)Gac>Aac	p.D135N	C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				caatctttgtgacctgggttg	0.488																																						ENST00000374112.3																			0				endometrium(1)|lung(6)	7						c.(403-405)Gac>Aac		chromosome 10 open reading frame 53							126	126	126					10																	50916592		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50916592G>A	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	ENST00000374112.3:c.403G>A	10.37:g.50916592G>A	ENSP00000363226:p.Asp135Asn					C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN			3	415	+		all_neural(218;0.107)	0					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374112.3	37	c.403G>A	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594908	0.28445	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	P	0.41947	0.766	B	0.33521	0.165	T	0.10268	-1.0637	8	0.87932	D	0	.	6.7374	0.23417	0.0:0.0:1.0:0.0	.	135	B9ZVK6	.	N	135	.	ENSP00000363226:D135N	D	+	1	0	C10orf53	50586598	0.028000	0.19301	0.022000	0.16811	0.046000	0.14306	0.550000	0.23345	1.229000	0.43630	0.491000	0.48974	GAC		0.488	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	NM_182554		8	520	0	0	0	0.000274275	0	8	520					A	50916592	G	A	50916592	3	1	125	1	0	0	0	0	1	0	0	0	1611	1290	45	2	482	2	C10orf53	10	50916592	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	2527682	50916592	84618155	103	38839											
PCDH15	65217	broad.mit.edu	37	chr10	55849770	55849770	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gaaagattaaaaactctctgAggatctccattctcaatggc	7	9	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:55849770A>G	ENST00000320301.6	-	16	2365	c.1971T>C	c.(1969-1971)ccT>ccC	p.P657P	PCDH15_ENST00000395432.2_Silent_p.P620P|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000373957.3_Silent_p.P635P|PCDH15_ENST00000373965.2_Silent_p.P664P|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P662P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	657	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)				AAACTCTCTGAGGATCTCCAT	0.338										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.(1990-1992)ccT>ccC		protocadherin-related 15							64	66	66					10																	55849770		2203	4298	6501	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55849770A>G	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.1971T>C	10.37:g.55849770A>G		HNSCC(58;0.16)				PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000414778.1_Silent_p.P662P|PCDH15_ENST00000373957.3_Silent_p.P635P|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000320301.6_Silent_p.P657P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000395432.2_Silent_p.P620P	p.P664P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			17	2386	-		Melanoma(3;0.117)|Lung SC(717;0.238)	657			Cadherin 6.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.1992T>C	CCDS7248.1																																																																																				0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		14	649	0	0	0	0.000422831	0	14	649					G	55849770	A	G	55849770	2	3	125	1	0	0	0	0	0	0	0	1	11553	291	11	4		4	PCDH15	10	55849770	Silent	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	4933178	55849770	79684977	104	38840											
CCDC109A	90550	broad.mit.edu	37	chr10	74631317	74631317	+	Silent	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	agtgccatggcaatgtatgcAtattttgtaatgacacgcca	9	8	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:74631317A>T	ENST00000373053.3	+	6	861	c.840A>T	c.(838-840)gcA>gcT	p.A280A	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000357157.6_Silent_p.A259A|MCU_ENST00000536019.1_Silent_p.A231A	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	280					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAATGTATGCATATTTTGTAA	0.378																																						ENST00000536019.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						c.(691-693)gcA>gcT		mitochondrial calcium uniporter							103	97	99					10																	74631317		2203	4300	6503	SO:0001819	synonymous_variant	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74631317A>T	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"coiled-coil domain containing 109A"	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.840A>T	10.37:g.74631317A>T						MCU_ENST00000357157.6_Silent_p.A259A|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Silent_p.A280A	p.A231A	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN			6	1138	+			280					B2RDF3|B3KXV7|Q96FL3	Silent	SNP	ENST00000373053.3	37	c.693A>T	CCDS7317.1																																																																																				0.378	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		7	340	0	0	0	0.00198382	0	7	340					T	74631317	A	T	74631317	2	4	125	1	0	0	0	0	0	0	0	1	2751	204	8	5		5	CCDC109A	10	74631317	Silent	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	18781547	74631317	60903430	105	38841											
ANKRD2	26287	broad.mit.edu	37	chr10	99338074	99338074	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ggcgggatccagaacctcatCgagctgcggaagaaacgcaa	13	11	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:99338074C>A	ENST00000307518.5	+	3	615	c.348C>A	c.(346-348)atC>atA	p.I116I	ANKRD2_ENST00000370655.1_Silent_p.I89I|ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000298808.5_Silent_p.I116I			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	116	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)		AGAACCTCATCGAGCTGCGGA	0.662																																						ENST00000307518.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(346-348)atC>atA		ankyrin repeat domain 2 (stretch responsive muscle)							31	31	31					10																	99338074		2203	4300	6503	SO:0001819	synonymous_variant	26287				muscle contraction|muscle organ development		structural constituent of muscle	g.chr10:99338074C>A	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.348C>A	10.37:g.99338074C>A						ANKRD2_ENST00000298808.5_Silent_p.I116I|ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000370655.1_Silent_p.I89I	p.I116I			Q9GZV1	ANKR2_HUMAN		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)	3	615	+		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)	116					Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	ENST00000307518.5	37	c.348C>A	CCDS7466.1																																																																																				0.662	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				39	146	1	0	8.01111e-26	0.0025221	4.13061e-25	39	146					A	99338074	C	A	99338074	2	1	125	1	0	0	0	0	0	0	0	1	647	874	31	3		3	ANKRD2	10	99338074	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	24706757	99338074	36196673	106	38842											
INA	9118	broad.mit.edu	37	chr10	105037160	105037160	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcgctcggcctcggcctGgcctatcgccggccgccggc	14	19	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:105037160G>A	ENST00000369849.4	+	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	64	Head.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCCTCGGCCTGGCCTATCGCC	0.741																																						ENST00000369849.4																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13						c.(190-192)ctG>ctA		internexin neuronal intermediate filament protein, alpha							8	10	9					10																	105037160		1987	4030	6017	SO:0001819	synonymous_variant	9118				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	g.chr10:105037160G>A	S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"Intermediate filaments type IV"	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.192G>A	10.37:g.105037160G>A							p.L64L	NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN		Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	1	241	+			64			Head.		B1AQK0|Q9BRC5	Silent	SNP	ENST00000369849.4	37	c.192G>A	CCDS7545.1																																																																																				0.741	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727		18	58	0	0	0	0.00074312	0	18	58					A	105037160	G	A	105037160	2	1	125	1	0	0	0	0	0	0	0	1	7760	1335	47	2		2	INA	10	105037160	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	5699086	105037160	30497587	107	38843											
ATRNL1	26033	broad.mit.edu	37	chr10	117226743	117226743	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aactttaatctcaacattacGtggtctgtcggttcaacagg	8	9	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:117226743G>A	ENST00000355044.3	+	23	3603	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.T210T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159					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)		TCAACATTACGTGGTCTGTCG	0.294																																						ENST00000355044.3																			0				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						c.(3475-3477)acG>acA		attractin-like 1							130	125	127					10																	117226743		2202	4296	6498	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117226743G>A	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.3477G>A	10.37:g.117226743G>A						ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.T210T	p.T1159T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	23	3603	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1159					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.3477G>A	CCDS7592.1																																																																																				0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		20	312	0	0	0	0.00188189	0	20	312					A	117226743	G	A	117226743	2	1	125	1	0	0	0	0	0	0	0	1	1208	1132	40	1		1	ATRNL1	10	117226743	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	12189583	117226743	18308004	108	38844											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118203960	118203960	+	Missense_Mutation	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tcaacggttcacgggaatacAtccatgctgtaaacaatctc	7	11	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:118203960A>C	ENST00000369230.3	+	4	537	c.391A>C	c.(391-393)Atc>Ctc	p.I131L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	131					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)		ACGGGAATACATCCATGCTGT	0.318																																						ENST00000369230.3																			0				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						c.(391-393)Atc>Ctc		pancreatic lipase-related protein 3							169	160	163					10																	118203960		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118203960A>C	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.391A>C	10.37:g.118203960A>C	ENSP00000358232:p.Ile131Leu						p.I131L	NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	4	537	+			131						Missense_Mutation	SNP	ENST00000369230.3	37	c.391A>C	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117608	0.37339	.	.	ENSG00000203837	ENST00000369230	D	0.90620	-2.7	5.28	-0.352	0.12598	Lipase, N-terminal (1);	0.753542	0.11427	N	0.565260	T	0.82070	0.4957	L	0.33668	1.02	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.69435	-0.5146	10	0.66056	D	0.02	.	2.765	0.05317	0.6175:0.1526:0.1158:0.114	.	131	Q17RR3	LIPR3_HUMAN	L	131	ENSP00000358232:I131L	ENSP00000358232:I131L	I	+	1	0	PNLIPRP3	118193950	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.284000	0.18864	-0.211000	0.10124	0.482000	0.46254	ATC		0.318	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		10	534	0	0	0	0.000978159	0	10	534					C	118203960	A	C	118203960	3	2	125	1	0	0	0	0	1	0	0	0	12194	217	8	4	405	4	PNLIPRP3	10	118203960	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	977217	118203960	17330787	109	38845											
MKI67	4288	broad.mit.edu	37	chr10	129905212	129905212	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ccagggatgtcttgagccgtCgcttggagcttgctgggttt	15	9	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:129905212C>T	ENST00000368654.3	-	13	5267	c.4892G>A	c.(4891-4893)cGa>cAa	p.R1631Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1631	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)				CTTGAGCCGTCGCTTGGAGCT	0.502																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4891-4893)cGa>cAa		marker of proliferation Ki-67							218	218	218					10																	129905212		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905212C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4892G>A	10.37:g.129905212C>T	ENSP00000357643:p.Arg1631Gln					MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	p.R1631Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5267	-		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)	1631			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4892G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912034	0.17907	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03152	4.03;4.03	2.6	0.628	0.17681	.	0.461817	0.16195	N	0.225197	T	0.02230	0.0069	L	0.34521	1.04	0.09310	N	1	B;P;B	0.34562	0.053;0.457;0.275	B;B;B	0.22753	0.007;0.041;0.033	T	0.47355	-0.9124	10	0.25751	T	0.34	.	4.3863	0.11318	0.0:0.5705:0.1925:0.237	.	1630;1271;1631	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1631;1271;1630	ENSP00000357643:R1631Q;ENSP00000357642:R1271Q	ENSP00000357642:R1271Q	R	-	2	0	MKI67	129795202	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.262000	0.32992	0.166000	0.19597	-0.244000	0.11960	CGA		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		17	1032	0	0	0	0.00136819	0	17	1032					T	129905212	C	T	129905212	3	4	125	1	0	0	0	0	1	0	0	0	9639	884	31	1	4890	1	MKI67	10	129905212	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	11701252	129905212	5629535	110	38846											
FAM160A2	84067	broad.mit.edu	37	chr11	6235766	6235766	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtcctcctgggaagccGcaaagttctcaatcttattc	9	11	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:6235766G>A	ENST00000449352.2	-	11	2695	c.2432C>T	c.(2431-2433)gCg>gTg	p.A811V	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Missense_Mutation_p.A825V			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					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						CTGGGAAGCCGCAAAGTTCTC	0.532																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2473-2475)gCg>gTg		family with sequence similarity 160, member A2							117	119	118					11																	6235766		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6235766G>A		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.2432C>T	11.37:g.6235766G>A	ENSP00000416918:p.Ala811Val					FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A811V	p.A825V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			11	2832	-			811					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2474C>T	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.717264	0.89205	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.11277	2.81;2.79	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.00731	-1.1590	10	0.30078	T	0.28	-9.5991	17.6957	0.88281	0.0:0.0:1.0:0.0	.	811;825	Q8N612;Q8N612-2	F16A2_HUMAN;.	V	811;825	ENSP00000416918:A811V;ENSP00000265978:A825V	ENSP00000265978:A825V	A	-	2	0	FAM160A2	6192342	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	9.136000	0.94489	2.391000	0.81399	0.457000	0.33378	GCG		0.532	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		6	541	0	0	0	0.00198382	0	6	541					A	6235766	G	A	6235766	3	1	125	1	0	0	0	0	1	0	0	0	5490	1087	38	1	494	1	FAM160A2	11	6235766	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		6235766	128770750	111	38847											
MRVI1	10335	broad.mit.edu	37	chr11	10622527	10622527	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttaaactccatgagctccGcatggtccttctcatacgtc	6	13	1	1	rs376317552	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:10622527G>A	ENST00000436272.1	-	14	1952	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	MRVI1_ENST00000547195.1_Missense_Mutation_p.A561V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	625					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)		CATGAGCTCCGCATGGTCCTT	0.517													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21157	0.0		0.0	False		,,,				2504	0.001					ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1681-1683)gCg>gTg		murine retrovirus integration site 1 homolog		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,3876		0,0,1938	191	186	187		1931,1682,1010,1337,1010,1955	5.4	1	11		187	1,8269		0,1,4134	no	missense,missense,missense,missense,missense,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	64,64,64,64,64,64	0,1,6072	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	644/905,561/822,337/598,446/707,337/598,652/913	10622527	1,12145	1938	4135	6073	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622527G>A	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.1874C>T	11.37:g.10622527G>A	ENSP00000412229:p.Ala625Val					MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000436272.1_Missense_Mutation_p.A625V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V	p.A561V	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	14	2182	-			625					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1682C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.484238	0.96307	0.0	1.21E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.57075	-0.7873	10	0.72032	D	0.01	-10.4332	19.2679	0.93997	0.0:0.0:1.0:0.0	.	446;625;644;643	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	643;626;625;561;561;337;337;652;446;644;561	ENSP00000414598:A643V;ENSP00000412229:A625V;ENSP00000448278:A561V;ENSP00000446764:A561V;ENSP00000441971:A337V;ENSP00000401205:A337V;ENSP00000412130:A652V;ENSP00000437784:A446V;ENSP00000432436:A644V;ENSP00000432067:A561V	ENSP00000307885:A626V	A	-	2	0	MRVI1	10579103	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GCG		0.517	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		8	631	0	0	0	0.000442599	0	8	631					A	10622527	G	A	10622527	3	1	125	1	0	0	0	0	1	0	0	0	9894	1087	38	1	811	1	MRVI1	11	10622527	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	4386761	10622527	124383989	112	38848											
SPON1	10418	broad.mit.edu	37	chr11	14157106	14157106	+	RNA	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tgaaaatggaggaagaaattCgacaacaggtaagacaaaaa	10	4	0	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:14157106C>A	ENST00000310358.7	+	0	1352				RNA5SP332_ENST00000391063.1_RNA			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)		GGAAGAAATTCGACAACAGGT	0.418																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							80	78	79					11																	14157106		1884	4118	6002			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14157106C>A	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.14157106C>A										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1352	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37																																																																																						0.418	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		9	246	1	0	0.000978159	0.000978159	0.00411918	9	246					A	14157106	C	A	14157106	1	1	125	0	1	0	0	0	0	0	0	0	15134	876	31	3		3	SPON1	11	14157106	RNA	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	3534579	14157106	120849410	113	38849											
PAMR1	25891	broad.mit.edu	37	chr11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-													catagaagtcatccaaggtaCccccccatgagccatttcgg							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:35513670delC	ENST00000378880.2	-	3	747	c.302delG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs|PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						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						ATCCAAGGTACCCCCCCATGA	0.517																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gtfs		peptidase domain containing associated with muscle regeneration 1							201	193	196					11																	35513670		2202	4298	6500	SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513670delC		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.302delG	11.37:g.35513670delC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000278360.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Frame_Shift_Del_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Del_p.G61fs	p.G101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Del	DEL	ENST00000378880.2	37	c.302delG	CCDS31460.1																																																																																				0.517	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		9	1128						9	1128	---	---	---	---	-	35513670	C	-	35513670	7	5	125	1	0	1	0	1	0	0	0	0	11455	507	18	0	1951	0	PAMR1	11	35513670	Frame_Shift_Del	DEL	C	TCGA-YY-A8LH-01A-11D-A36O-08	21356564	35513670	99492846	114	38850											
PGA3	643834	broad.mit.edu	37	chr11	60971045	60971047	+	In_Frame_Del	DEL	GCT	GCT	-													ccgggaagaaccatgaagtgGctgctgctgctgggtctggt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:60971045_60971047delGCT	ENST00000325558.6	+	1	194_196	c.9_11delGCT	c.(7-12)tggctg>tgg	p.L7del		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	7					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						CCATGAAGTGGCTGCTGCTGCTG	0.567																																						ENST00000325558.6																			0				endometrium(1)|lung(1)|ovary(1)|skin(2)	5						c.(7-12)tgg>tg		pepsinogen 3, group I (pepsinogen A)																																				SO:0001651	inframe_deletion	643834							g.chr11:60971045_60971047delGCT	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.9_11delGCT	11.37:g.60971054_60971056delGCT	ENSP00000322192:p.Leu7del						p.WL3del	NM_001079807.1	NP_001073275.1					1	194_196	+								A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	In_Frame_Del	DEL	ENST00000325558.6	37	c.9_11delGCT	CCDS31574.1																																																																																				0.567	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397955.2	NM_001079807		7	699						7	699	---	---	---	---	-	60971047	GCT	-	60971045	7	5	125	1	0	1	0	1	0	0	0	0	11813	1212	42	0	11	0	PGA3	11	60971045	In_Frame_Del	DEL	GCT	TCGA-YY-A8LH-01A-11D-A36O-08	25457375	60971045	74035471	115	38851											
DDB1	1642	broad.mit.edu	37	chr11	61083828	61083828	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	atccacgaaacccatcagttCggtttcttctacctcctctc	4	16	4	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:61083828C>A	ENST00000301764.7	-	12	1736	c.1339G>T	c.(1339-1341)Gaa>Taa	p.E447*	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	447	Interaction with CDT1.|WD repeat beta-propeller B; Interaction with CUL4A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CCCATCAGTTCGGTTTCTTCT	0.517								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				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						c.(1339-1341)Gaa>Taa	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa							196	180	185					11																	61083828		2203	4299	6502	SO:0001587	stop_gained	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61083828C>A	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.1339G>T	11.37:g.61083828C>A	ENSP00000301764:p.Glu447*					DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	p.E447*	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN			12	1736	-			447			Interaction with CDT1.|Interaction with CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Nonsense_Mutation	SNP	ENST00000301764.7	37	c.1339G>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	42	9.381356	0.99155	.	.	ENSG00000167986	ENST00000301764;ENST00000537877;ENST00000535967;ENST00000539739;ENST00000535174	.	.	.	5.35	5.35	0.76521	.	0.046308	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-16.5751	19.0687	0.93123	0.0:1.0:0.0:0.0	.	.	.	.	X	447;11;98;166;230	.	ENSP00000301764:E447X	E	-	1	0	DDB1	60840404	1.000000	0.71417	0.893000	0.35052	0.968000	0.65278	7.797000	0.85911	2.522000	0.85027	0.655000	0.94253	GAA		0.517	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		7	834	1	0	0.000157383	0.000157383	0.000693142	7	834					A	61083828	C	A	61083828	4	1	125	1	0	0	0	0	0	1	0	0	4334	893	31	3	2147	3	DDB1	11	61083828	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	112783	61083828	73922688	116	38852											
AHNAK	79026	broad.mit.edu	37	chr11	62297983	62297983	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gggcccttcagctttccttcCgggccctcaaggctcacatc	9	17	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:62297983C>A	ENST00000378024.4	-	5	4180	c.3906G>T	c.(3904-3906)ccG>ccT	p.P1302P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1302					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)				GCTTTCCTTCCGGGCCCTCAA	0.547																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3904-3906)ccG>ccT		AHNAK nucleoprotein							135	145	142					11																	62297983		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62297983C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3906G>T	11.37:g.62297983C>A						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P1302P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4180	-		Melanoma(852;0.155)	1302					A1A586	Silent	SNP	ENST00000378024.4	37	c.3906G>T	CCDS31584.1																																																																																				0.547	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	947	1	0	0.00198382	0.00198382	0.00809612	7	947					A	62297983	C	A	62297983	2	1	125	1	0	0	0	0	0	0	0	1	414	639	23	3		3	AHNAK	11	62297983	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1214155	62297983	72708533	117	38853											
PPFIA1	8500	broad.mit.edu	37	chr11	70171012	70171012	+	Silent	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gagcggtctcttaggatgacCgtggtgaagagacaagcgca	15	8	1	3	rs144282210		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:70171012C>A	ENST00000253925.7	+	4	641	c.426C>A	c.(424-426)acC>acA	p.T142T	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	142					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)	p.T142T(1)		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)			TTAGGATGACCGTGGTGAAGA	0.473																																						ENST00000253925.7																			1	Substitution - coding silent(1)	p.T142T(1)	lung(1)	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						c.(424-426)acC>acA		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							132	137	135					11																	70171012		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70171012C>A	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.426C>A	11.37:g.70171012C>A						CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T|AP000487.6_ENST00000528607.1_RNA	p.T142T	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		4	641	+			142					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.426C>A	CCDS31627.1																																																																																				0.473	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		8	765	1	0	0.000274275	0.000274275	0.00119304	8	765					A	70171012	C	A	70171012	2	1	125	1	0	0	0	0	0	0	0	1	12351	639	23	3		3	PPFIA1	11	70171012	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	7873029	70171012	64835504	118	38854											
RDX	5962	broad.mit.edu	37	chr11	110108333	110108333	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcttttgctcgttttcGttcttgatccagttctagag	7	9	4	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:110108333G>A	ENST00000343115.4	-	11	1454	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	379	Glu-rich.				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)		GCTCGTTTTCGTTCTTGATCC	0.423																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	ENST00000343115.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18						c.(1135-1137)Cga>Tga		radixin							183	175	177					11																	110108333		2201	4298	6499	SO:0001587	stop_gained	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110108333G>A	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.1135C>T	11.37:g.110108333G>A	ENSP00000342830:p.Arg379*					RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*|RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*	p.R379*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN		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)	11	1454	-		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)	379			Glu-rich.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Nonsense_Mutation	SNP	ENST00000343115.4	37	c.1135C>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	41	8.635797	0.98895	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	3.73	0.42828	.	0.148841	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.0536	0.64754	0.0:0.0:0.6747:0.3253	.	.	.	.	X	379;379;32;379;243;49	.	ENSP00000342830:R379X	R	-	1	2	RDX	109613543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.730000	0.93505	0.650000	0.86243	CGA		0.423	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		51	576	0	0	0	0.000781405	0	51	576					A	110108333	G	A	110108333	4	1	125	1	0	0	0	0	0	1	0	0	13248	1153	40	1	632	1	RDX	11	110108333	Nonsense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	39937321	110108333	24898183	119	38855											
OR10G9	219870	broad.mit.edu	37	chr11	123894641	123894641	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgagagacaaagtagcacatTctcagggagaataaatacta	9	6	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:123894641T>C	ENST00000375024.1	+	1	922	c.922T>C	c.(922-924)Tct>Cct	p.S308P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	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)|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)		AGTAGCACATTCTCAGGGAGA	0.358																																						ENST00000375024.1																			0				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						c.(922-924)Tct>Cct		olfactory receptor, family 10, subfamily G, member 9							71	68	69					11																	123894641		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894641T>C	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.922T>C	11.37:g.123894641T>C	ENSP00000364164:p.Ser308Pro						p.S308P	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	922	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	308						Missense_Mutation	SNP	ENST00000375024.1	37	c.922T>C	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	T	5.525	0.281841	0.10458	.	.	ENSG00000236981	ENST00000375024	T	0.05382	3.45	3.48	2.33	0.28932	.	0.684276	0.12078	N	0.501557	T	0.04497	0.0123	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44236	-0.9341	10	0.24483	T	0.36	.	8.861	0.35258	0.0:0.0:0.2124:0.7876	.	308	Q8NGN4	O10G9_HUMAN	P	308	ENSP00000364164:S308P	ENSP00000364164:S308P	S	+	1	0	OR10G9	123399851	0.000000	0.05858	0.012000	0.15200	0.028000	0.11728	0.227000	0.17795	0.514000	0.28300	0.533000	0.62120	TCT		0.358	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		5	327	0	0	0	0.00116845	0	5	327					C	123894641	T	C	123894641	3	2	125	1	0	0	0	0	1	0	0	0	10946	1783	62	4	924	4	OR10G9	11	123894641	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	13786308	123894641	11111875	120	38856											
DYRK4	8798	broad.mit.edu	37	chr12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-													atataaccaacaacagggggAaaaaaagatacccagattcc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:4719362delA	ENST00000540757.2	+	11	1217	c.1057delA	c.(1057-1059)aaafs	p.K354fs	DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs	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	354	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)			CAACAGGGGGAAAAAAAGATA	0.398																																						ENST00000540757.2																			0				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						c.(1057-1059)aafs		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							108	105	106					12																	4719362		2203	4300	6503	SO:0001589	frameshift_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4719362delA	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.1057delA	12.37:g.4719362delA	ENSP00000441755:p.Lys354fs					DYRK4_ENST00000010132.5_Frame_Shift_Del_p.K354fs|DYRK4_ENST00000545342.1_5'UTR|DYRK4_ENST00000543431.1_Frame_Shift_Del_p.K354fs	p.K354fs	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		11	1217	+			354			Protein kinase.		A8K8F7|Q8NEF2|Q92631	Frame_Shift_Del	DEL	ENST00000540757.2	37	c.1057delA	CCDS8530.1																																																																																				0.398	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			7	479						7	479	---	---	---	---	-	4719362	A	-	4719362	7	5	125	1	0	1	0	1	0	0	0	0	4874	247	9	0	1091	0	DYRK4	12	4719362	Frame_Shift_Del	DEL	A	TCGA-YY-A8LH-01A-11D-A36O-08		4719362	129132533	121	38857											
ACRBP	84519	broad.mit.edu	37	chr12	6753307	6753307	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaacttcctatacctgcCagggttttggtttctccagt	7	11	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:6753307C>T	ENST00000229243.2	-	5	1033	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ACRBP_ENST00000542357.1_5'Flank|ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S|ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTATACCTGCCAGGGTTTTGG	0.463																																						ENST00000229243.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						c.(940-942)Ggc>Agc		acrosin binding protein							69	70	70					12																	6753307		2203	4299	6502	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6753307C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"proacrosin binding protein sp32", "cancer/testis antigen 23"	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.940G>A	12.37:g.6753307C>T	ENSP00000229243:p.Gly314Ser					ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S|ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S	p.G314S	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN			5	1033	-			314						Missense_Mutation	SNP	ENST00000229243.2	37	c.940G>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612970	0.46631	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.44881	0.92;0.91	4.25	2.41	0.29592	.	0.596770	0.15767	N	0.245645	T	0.29914	0.0748	L	0.50919	1.6	0.21325	N	0.999725	P;P	0.37525	0.598;0.598	B;B	0.31614	0.133;0.133	T	0.14504	-1.0470	10	0.41790	T	0.15	.	5.855	0.18714	0.0:0.767:0.0:0.233	.	281;314	E7EP66;Q8NEB7	.;ACRBP_HUMAN	S	314;281;314	ENSP00000229243:G314S;ENSP00000402725:G281S	ENSP00000229243:G314S	G	-	1	0	ACRBP	6623568	0.505000	0.26131	0.620000	0.29132	0.535000	0.34838	0.691000	0.25467	1.135000	0.42183	0.561000	0.74099	GGC		0.463	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		7	364	0	0	0	0.000157383	0	7	364					T	6753307	C	T	6753307	3	4	125	1	0	0	0	0	1	0	0	0	170	594	21	2	715	2	ACRBP	12	6753307	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2033945	6753307	127098588	122	38858											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		96	237	1	0	3.10586e-51	0.000781405	1.61719e-50	96	237					A	25398284	C	A	25398284	3	1	125	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	18644977	25398284	108453611	123	38859											
SFRS2IP	9169	broad.mit.edu	37	chr12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-													gttgggatggtgggggagggGgtggtggtggtggtagtccc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P|SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-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						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	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.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		7	380						7	380	---	---	---	---	-	46318577	GGT	-	46318575	7	5	125	1	0	1	0	1	0	0	0	0	14227	1232	43	0	565	0	SFRS2IP	12	46318575	In_Frame_Del	DEL	GGT	TCGA-YY-A8LH-01A-11D-A36O-08	20920291	46318575	87533320	124	38860											
MLL2	8085	broad.mit.edu	37	chr12	49416371	49416371	+	Splice_Site	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctctgccagctcatAcctgctcttcgtagattttc	7	15	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:49416371A>C	ENST00000301067.7	-	51	16338		c.e51+1			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCAGCTCATACCTGCTCTTC	0.547																																						ENST00000301067.7																			0											c.e51+1		lysine (K)-specific methyltransferase 2D							159	162	161					12																	49416371		2028	4187	6215	SO:0001630	splice_region_variant	8085							g.chr12:49416371A>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16338+1T>G	12.37:g.49416371A>C								NM_003482.3	NP_003473.3					51	16338	-								O14687	Splice_Site	SNP	ENST00000301067.7	37		CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.303615	0.40795	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0915	0.64993	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47702638	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	8.672000	0.91181	2.040000	0.60383	0.482000	0.46254	.		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Intron	11	916	0	0	0	0.00185496	0	11	916					C	49416371	A	C	49416371	5	2	125	1	0	0	0	0	0	0	1	0	9662	405	14	4	289	4	MLL2	12	49416371	Splice_Site	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	3097796	49416371	84435524	125	38861											
LARP4	113251	broad.mit.edu	37	chr12	50847262	50847262	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggataaaagccatcaAtacattttttgctaagaatg	8	6	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:50847262A>G	ENST00000398473.2	+	9	936	c.824A>G	c.(823-825)aAt>aGt	p.N275S	LARP4_ENST00000347328.5_Intron|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	275	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AAAGCCATCAATACATTTTTT	0.308																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(823-825)aAt>aGt		La ribonucleoprotein domain family, member 4							109	96	100					12																	50847262		1848	4091	5939	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50847262A>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"La ribonucleoprotein domain containing"	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.824A>G	12.37:g.50847262A>G	ENSP00000381490:p.Asn275Ser					LARP4_ENST00000518444.1_Missense_Mutation_p.N274S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S|LARP4_ENST00000347328.5_Intron	p.N275S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			9	936	+			275			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.824A>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926632	0.73327	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.57595	1.24;0.94;0.92;0.39;0.89;0.5	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P	0.69078	0.997;0.957;0.996;0.995;0.553	D;D;D;D;P	0.77557	0.985;0.914;0.99;0.956;0.627	T	0.72899	-0.4152	10	0.49607	T	0.09	.	13.3994	0.60874	1.0:0.0:0.0:0.0	.	176;274;275;275;281	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	S	275;281;275;275;275;274;205;176	ENSP00000293618:N275S;ENSP00000415464:N281S;ENSP00000381490:N275S;ENSP00000429781:N275S;ENSP00000429077:N274S;ENSP00000430851:N205S	ENSP00000293618:N275S	N	+	2	0	LARP4	49133529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.707000	0.91367	1.724000	0.51502	0.260000	0.18958	AAT		0.308	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		93	214	0	0	0	0.000781405	0	93	214					G	50847262	A	G	50847262	3	3	125	1	0	0	0	0	1	0	0	0	8661	101	4	4	858	4	LARP4	12	50847262	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	1430891	50847262	83004633	126	38862											
RNF41	10193	broad.mit.edu	37	chr12	56600246	56600246	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttatatctcttccacGccatgcgcaaatatcatgac	4	13	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:56600246G>A	ENST00000345093.4	-	7	1308	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RNF41_ENST00000394013.2_Silent_p.G242G|RNF41_ENST00000552656.1_Silent_p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	313					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TCTCTTCCACGCCATGCGCAA	0.522											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000345093.4																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						c.(937-939)ggC>ggT		ring finger protein 41							173	167	169					12																	56600246		2203	4300	6503	SO:0001819	synonymous_variant	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600246G>A	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.939C>T	12.37:g.56600246G>A			OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_ENST00000394013.2_Silent_p.G242G|RNF41_ENST00000552656.1_Silent_p.G313G	p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN			7	1308	-			313					A6NFW0|B2RBT8|O75598	Silent	SNP	ENST00000345093.4	37	c.939C>T	CCDS8909.1																																																																																				0.522	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	NM_005785		53	690	0	0	0	0.000781405	0	53	690					A	56600246	G	A	56600246	2	1	125	1	0	0	0	0	0	0	0	1	13544	1074	38	1		1	RNF41	12	56600246	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	5752984	56600246	77251649	127	38863											
GLIPR1L2	144321	broad.mit.edu	37	chr12	75804255	75804255	+	Frame_Shift_Del	DEL	A	A	-													cggactgctagagcatggggAaaaaaatgtttgtttacgca							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:75804255delA	ENST00000550916.1	+	2	323	c.276delA	c.(274-276)ggafs	p.G92fs	GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000441218.1_Frame_Shift_Del_p.G27fs|GLIPR1L2_ENST00000547164.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000320460.4_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000435775.1_Frame_Shift_Del_p.G92fs	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	92	SCP.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCATGGGGAAAAAAATGTT	0.318																																						ENST00000550916.1																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(274-276)ggfs		GLI pathogenesis-related 1 like 2				4,4260		0,4,2128	83	83	83			3.1	1	12		83	8,8244		2,4,4120	no	frameshift	GLIPR1L2	NM_152436.1		2,8,6248	A1A1,A1R,RR		0.0969,0.0938,0.0959			75804255	12,12504	2203	4299	6502	SO:0001589	frameshift_variant	144321					integral to membrane		g.chr12:75804255delA	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.276delA	12.37:g.75804255delA	ENSP00000448248:p.Gly92fs					GLIPR1L2_ENST00000320460.4_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000441218.1_Frame_Shift_Del_p.G27fs|GLIPR1L2_ENST00000547164.1_Frame_Shift_Del_p.G92fs|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000435775.1_Frame_Shift_Del_p.G92fs	p.G92fs	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN			2	323	+			92					Q6MZS1|Q8N6N0|Q8NA43	Frame_Shift_Del	DEL	ENST00000550916.1	37	c.276delA	CCDS58258.1																																																																																				0.318	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		9	604						9	604	---	---	---	---	-	75804255	A	-	75804255	7	5	125	1	0	1	0	1	0	0	0	0	6472	233	9	0	282	0	GLIPR1L2	12	75804255	Frame_Shift_Del	DEL	A	TCGA-YY-A8LH-01A-11D-A36O-08	19204009	75804255	58047640	128	38864											
TMEM132D	121256	broad.mit.edu	37	chr12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcgtaggaggcgccatccGcactggagagaagacacaga	13	12	0	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	373					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)		GGCGCCATCCGCACTGGAGAG	0.592																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1117-1119)gCg>gTg		transmembrane protein 132D							76	72	73					12																	129822360		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129822360G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1118C>T	12.37:g.129822360G>A	ENSP00000408581:p.Ala373Val						p.A373V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	4	1444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	373					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1118C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		12	370	0	0	0	0.00244969	0	12	370					A	129822360	G	A	129822360	3	1	125	1	0	0	0	0	1	0	0	0	16099	1087	38	1	2205	1	TMEM132D	12	129822360	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	54018105	129822360	4029535	129	38865											
FZD10	11211	broad.mit.edu	37	chr12	130648711	130648711	+	Silent	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ctggcctgctacctggtcatCggcacgtccttcatcctctc	8	17	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130648711C>T	ENST00000229030.4	+	1	1708	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	FZD10_ENST00000539839.1_Missense_Mutation_p.R376W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	408					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCTGGTCATCGGCACGTCCT	0.642																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1126-1128)Cgg>Tgg		frizzled family receptor 10							146	133	137					12																	130648711		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648711C>T	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.1224C>T	12.37:g.130648711C>T						FZD10_ENST00000229030.4_Silent_p.I408I	p.R376W	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1708	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1126C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	8.505	0.865101	0.17250	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	-2.84	0.05751	.	.	.	.	.	T	0.68888	0.3050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72903	-0.4151	5	0.87932	D	0	.	12.273	0.54716	0.0:0.2908:0.5973:0.1119	.	.	.	.	W	376	.	ENSP00000438460:R376W	R	+	1	2	FZD10	129214664	0.038000	0.19896	0.092000	0.20876	0.725000	0.41563	-0.798000	0.04565	-0.407000	0.07576	-0.305000	0.09177	CGG		0.642	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				64	213	0	0	0	0.000781405	0	64	213					T	130648711	C	T	130648711	2	4	125	1	0	0	0	0	0	0	0	1	6156	874	31	1		1	FZD10	12	130648711	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	826351	130648711	3203184	130	38866											
FNDC3A	22862	broad.mit.edu	37	chr13	49775956	49775956	+	Missense_Mutation	SNP	G	G	C	1	0	0	0	0	1	1	1	0	0	0	0	gtttgtatccctatacagagGaccatgtcatacatacaaag	7	9	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:49775956G>C	ENST00000492622.2	+	24	3313	c.3008G>C	c.(3007-3009)gGa>gCa	p.G1003A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1003	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATACAGAGGACCATGTCAT	0.328																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3007-3009)gGa>gCa		fibronectin type III domain containing 3A							81	81	81					13																	49775956		2202	4300	6502	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49775956G>C	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3008G>C	13.37:g.49775956G>C	ENSP00000417257:p.Gly1003Ala					FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A	p.G1003A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	24	3313	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1003			Fibronectin type-III 8.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3008G>C	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833531	0.91036	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56611	0.45;0.45;0.45	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.78723	0.4328	M	0.90082	3.085	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.91635	0.999;0.908	T	0.76822	-0.2817	10	0.33141	T	0.24	-24.3933	19.848	0.96722	0.0:0.0:1.0:0.0	.	947;1003	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	A	1003;939;1003;947	ENSP00000417257:G1003A;ENSP00000441831:G1003A;ENSP00000381362:G947A	ENSP00000338579:G939A	G	+	2	0	FNDC3A	48673957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GGA		0.328	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		6	442	0	0	0	0.00116845	0	6	442					C	49775956	G	C	49775956	3	2	125	1	0	0	0	0	1	0	0	0	5994	1174	41	5	3109	5	FNDC3A	13	49775956	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		49775956	65393922	131	38867											
CCDC70	83446	broad.mit.edu	37	chr13	52439534	52439534	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	catggccaccccgccattccGgctgataaggaagatgtttt	10	12	0	2	rs141731440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52439534G>T	ENST00000242819.4	+	2	316	c.20G>T	c.(19-21)cGg>cTg	p.R7L		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	7						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCGCCATTCCGGCTGATAAGG	0.577																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(19-21)cGg>cTg		coiled-coil domain containing 70							46	46	46					13																	52439534		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439534G>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.20G>T	13.37:g.52439534G>T	ENSP00000242819:p.Arg7Leu						p.R7L	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	316	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	7					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.20G>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	3.641	-0.073442	0.07184	.	.	ENSG00000123171	ENST00000242819	T	0.35789	1.29	4.67	1.94	0.25998	.	1.136360	0.06681	N	0.767977	T	0.25827	0.0629	N	0.24115	0.695	0.09310	N	1	B	0.23185	0.081	B	0.23275	0.045	T	0.29488	-1.0010	10	0.46703	T	0.11	-2.2162	6.8951	0.24251	0.2994:0.0:0.7006:0.0	.	7	Q6NSX1	CCD70_HUMAN	L	7	ENSP00000242819:R7L	ENSP00000242819:R7L	R	+	2	0	CCDC70	51337535	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.745000	0.26259	0.143000	0.18926	-0.672000	0.03802	CGG		0.577	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		6	241	1	0	0.00198382	0.00198382	0.00809612	6	241					T	52439534	G	T	52439534	3	4	125	1	0	0	0	0	1	0	0	0	2850	1116	39	3	22	3	CCDC70	13	52439534	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	2663578	52439534	62730344	132	38868											
ATP7B	540	broad.mit.edu	37	chr13	52585461	52585461	+	Nonsense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	tctggctgtgatctgtctctCctgctcaggcatcgtcccgc	10	15	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52585461C>A	ENST00000242839.4	-	1	169	c.13G>T	c.(13-15)Gag>Tag	p.E5*	ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ALG11_ENST00000523764.1_5'Flank|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ALG11_ENST00000521508.1_5'Flank|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	5					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)	ATCTGTCTCTCCTGCTCAGGC	0.592									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(13-15)Gag>Tag		ATPase, Cu++ transporting, beta polypeptide							70	84	79					13																	52585461		2054	4209	6263	SO:0001587	stop_gained	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52585461C>A	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.13G>T	13.37:g.52585461C>A	ENSP00000242839:p.Glu5*					ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*	p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	1	169	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	5					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Nonsense_Mutation	SNP	ENST00000242839.4	37	c.13G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225575	0.79576	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	3.89	1.0	0.19881	.	0.976046	0.08296	U	0.967727	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.074	2.4796	0.04584	0.1932:0.5103:0.1876:0.1088	.	.	.	.	X	5	.	ENSP00000242839:E5X	E	-	1	0	ATP7B	51483462	0.002000	0.14202	0.001000	0.08648	0.037000	0.13140	0.524000	0.22940	0.051000	0.15978	-0.378000	0.06908	GAG		0.592	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		63	235	1	0	3.30712e-30	0.000781405	1.71354e-29	63	235					A	52585461	C	A	52585461	4	1	125	1	0	0	0	0	0	1	0	0	1192	864	30	3	4468	3	ATP7B	13	52585461	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	145927	52585461	62584417	133	38869											
COL4A1	1282	broad.mit.edu	37	chr13	110857736	110857736	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatgagtcctgggtacccGggttcaccaggaaaaccctg	11	13	1	1	rs138809869		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	307	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(919-921)ccC>ccT		collagen, type IV, alpha 1		G		0,4406		0,0,2203	91	103	99		921	-10.1	0	13	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL4A1	NM_001845.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		307/1670	110857736	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110857736G>A	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.921C>T	13.37:g.110857736G>A						COL4A1_ENST00000543140.1_Silent_p.P307P	p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		17	1042	-	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)	307			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.921C>T	CCDS9511.1																																																																																				0.512	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			96	314	0	0	0	0.000781405	0	96	314					A	110857736	G	A	110857736	2	1	125	1	0	0	0	0	0	0	0	1	3698	1103	39	1		1	COL4A1	13	110857736	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	58272275	110857736	4312142	134	38870											
MDGA2	161357	broad.mit.edu	37	chr14	47426671	47426671	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaagactcttcacagcGtactctgtgtattcctgaga	9	9	3	2	rs368219229		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:47426671G>A	ENST00000399232.2	-	9	2152	c.1788C>T	c.(1786-1788)taC>taT	p.Y596Y	MDGA2_ENST00000426342.1_Silent_p.Y367Y|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000439988.3_Silent_p.Y665Y	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	596	Ig-like 6.				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						TCTTCACAGCGTACTCTGTGT	0.443																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1099-1101)taC>taT		MAM domain containing glycosylphosphatidylinositol anchor 2		G	,	0,3798		0,0,1899	98	96	97		1995,1101	2.7	1	14		97	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous	MDGA2	NM_001113498.2,NM_182830.3	,	0,1,6020	AA,AG,GG		0.0121,0.0,0.0083	,	665/1026,367/728	47426671	1,12041	1899	4122	6021	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426671G>A	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.1788C>T	14.37:g.47426671G>A						MDGA2_ENST00000399232.2_Silent_p.Y665Y|MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000439988.2_Silent_p.Y596Y	p.Y367Y	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1847	-			596			Ig-like 4.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1101C>T																																																																																					0.443	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		13	376	0	0	0	0.00185496	0	13	376					A	47426671	G	A	47426671	2	1	125	1	0	0	0	0	0	0	0	1	9448	1140	40	1		1	MDGA2	14	47426671	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		47426671	59922869	135	38871											
FERMT2	10979	broad.mit.edu	37	chr14	53360081	53360082	+	Frame_Shift_Ins	INS	-	-	T													actggtcatctagcttcttcINSttttttttctttgttggatc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:53360081_53360082insT	ENST00000395631.2	-	4	671_672	c.455_456insA	c.(454-456)aagfs	p.K152fs	FERMT2_ENST00000343279.4_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000553373.1_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000399304.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000341590.3_Frame_Shift_Ins_p.K152fs			Q96AC1	FERM2_HUMAN	fermitin family member 2	152					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)	p.K152K(1)	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)					CTAGCTTCTTCTTTTTTTTCTT	0.381																																						ENST00000395631.2																		ERO1L/FERMT2(2)	1	Substitution - coding silent(1)	p.K152K(1)	endometrium(1)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(454-456)aaafs		fermitin family member 2																																				SO:0001589	frameshift_variant	10979				actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	g.chr14:53360081_53360082insT	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.456dupA	14.37:g.53360089_53360089dupT	ENSP00000378993:p.Lys152fs					FERMT2_ENST00000399304.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000553373.1_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000341590.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000343279.4_Frame_Shift_Ins_p.K152fs	p.K152fs			Q96AC1	FERM2_HUMAN			4	671_672	-	Breast(41;0.0342)		152					B5TJY2|Q14840|Q86TY7	Frame_Shift_Ins	INS	ENST00000395631.2	37	c.455_456insA	CCDS9713.1																																																																																				0.381	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2	NM_006832		8	601						8	601	---	---	---	---	T	53360082	-	T	53360081	7	5	125	1	0	1	1	0	0	0	0	0	5843	912	32	0	1671	0	FERMT2	14	53360081	Frame_Shift_Ins	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	5933410	53360081	53989459	136	38872											
RPS6KA5	9252	broad.mit.edu	37	chr14	91372565	91372565	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	aatctcttcttgggatctttCatcaaaagacgctgaattag	7	8	5	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:91372565C>T	ENST00000261991.3	-	8	1058	c.885G>A	c.(883-885)atG>atA	p.M295I	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I|RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	295	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)		TGGGATCTTTCATCAAAAGAC	0.383																																						ENST00000261991.3																			0				endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(883-885)atG>atA		ribosomal protein S6 kinase, 90kDa, polypeptide 5							114	106	108					14																	91372565		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91372565C>T	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.885G>A	14.37:g.91372565C>T	ENSP00000261991:p.Met295Ile					RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000556304.1_5'UTR	p.M295I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	8	1058	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	295			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.885G>A	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031697	0.35797	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239079	0.49916	D	0.000136	T	0.24812	0.0602	N	0.03999	-0.3	0.41859	D	0.990216	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09292	-1.0681	10	0.35671	T	0.21	.	9.9904	0.41868	0.0:0.8486:0.0:0.1514	.	295;295	O75582-2;O75582	.;KS6A5_HUMAN	I	295;216;295	ENSP00000261991:M295I;ENSP00000442803:M216I;ENSP00000402787:M295I	ENSP00000261991:M295I	M	-	3	0	RPS6KA5	90442318	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.240000	0.32731	2.640000	0.89533	0.585000	0.79938	ATG		0.383	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		6	406	0	0	0	0.00198382	0	6	406					T	91372565	C	T	91372565	3	4	125	1	0	0	0	0	1	0	0	0	13704	826	29	2	1569	2	RPS6KA5	14	91372565	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	38012484	91372565	15976975	137	38873											
KIAA1409	57578	broad.mit.edu	37	chr14	94173190	94173190	+	Missense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	tggttgcagtgcactcagttCaaaatggcccaggtggagat	13	8	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:94173190C>A	ENST00000393151.2	+	50	7848	c.7848C>A	c.(7846-7848)ttC>ttA	p.F2616L	UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L|UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L|UNC79_ENST00000553484.1_Missense_Mutation_p.F2638L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2616					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCACTCAGTTCAAAATGGCCC	0.577																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7912-7914)ttC>ttA		unc-79 homolog (C. elegans)							73	76	75					14																	94173190		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94173190C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7848C>A	14.37:g.94173190C>A	ENSP00000376858:p.Phe2616Leu					UNC79_ENST00000393151.2_Missense_Mutation_p.F2616L|UNC79_ENST00000256339.4_Missense_Mutation_p.F2439L|UNC79_ENST00000555664.1_Missense_Mutation_p.F2577L	p.F2638L			Q9P2D8	UNC79_HUMAN			51	8068	+			2616					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.7914C>A		.	.	.	.	.	.	.	.	.	.	C	22.9	4.350856	0.82132	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26660	1.72;1.78;1.72;1.72	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.55743	1.74	0.58432	D	0.999999	P	0.48230	0.907	P	0.54026	0.74	T	0.07539	-1.0767	10	0.87932	D	0	-24.3522	11.5318	0.50614	0.0:0.8938:0.0:0.1062	.	2638	C9JQL1	.	L	2439;2577;2638;2616;2638	ENSP00000256339:F2439L;ENSP00000450868:F2577L;ENSP00000451360:F2638L;ENSP00000376858:F2616L	ENSP00000256339:F2439L	F	+	3	2	KIAA1409	93242943	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.910000	0.56371	2.894000	0.99253	0.655000	0.94253	TTC		0.577	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		10	298	1	0	2.80697e-09	0.000978159	1.361e-08	10	298					A	94173190	C	A	94173190	3	1	125	1	0	0	0	0	1	0	0	0	8260	825	29	3	7503	3	KIAA1409	14	94173190	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2800625	94173190	13176350	138	38874											
VRK1	7443	broad.mit.edu	37	chr14	97319216	97319216	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgaccttcagaaaatAtatgaagcaaatgccaaaag	10	6	1	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:97319216A>G	ENST00000216639.3	+	6	572	c.423A>G	c.(421-423)atA>atG	p.I141M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTCAGAAAATATATGAAGCAA	0.328																																						ENST00000216639.3																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12						c.(421-423)atA>atG		vaccinia related kinase 1							90	88	89					14																	97319216		2203	4300	6503	SO:0001583	missense	7443					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:97319216A>G	AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.423A>G	14.37:g.97319216A>G	ENSP00000216639:p.Ile141Met						p.I141M	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN		COAD - Colon adenocarcinoma(157;0.234)	6	572	+		Melanoma(154;0.155)	141			Protein kinase.		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	c.423A>G	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165260	0.38217	.	.	ENSG00000100749	ENST00000216639	T	0.21191	2.02	5.76	3.01	0.34805	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.418609	0.30446	N	0.009607	T	0.18509	0.0444	M	0.65498	2.005	0.41806	D	0.989943	P	0.44734	0.842	B	0.39876	0.312	T	0.07462	-1.0771	10	0.72032	D	0.01	-21.5458	1.8397	0.03147	0.4436:0.3034:0.106:0.1471	.	141	Q99986	VRK1_HUMAN	M	141	ENSP00000216639:I141M	ENSP00000216639:I141M	I	+	3	3	VRK1	96388969	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	0.138000	0.16016	0.978000	0.38470	0.482000	0.46254	ATA		0.328	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		24	316	0	0	0	0.000720815	0	24	316					G	97319216	A	G	97319216	3	3	125	1	0	0	0	0	1	0	0	0	17273	439	16	4	441	4	VRK1	14	97319216	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	3146026	97319216	10030324	139	38875											
NIPA1	123606	broad.mit.edu	37	chr15	23049053	23049053	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	ggccccgaacaccgaggagtCgaagcactccagcgccttgt	12	15	0	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:23049053C>T	ENST00000337435.4	-	5	790	c.766G>A	c.(766-768)Gac>Aac	p.D256N	NIPA1_ENST00000437912.2_Missense_Mutation_p.D181N|NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	256					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		ACCGAGGAGTCGAAGCACTCC	0.612																																						ENST00000437912.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15						c.(541-543)Gac>Aac		non imprinted in Prader-Willi/Angelman syndrome 1							124	89	101					15																	23049053		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049053C>T	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.766G>A	15.37:g.23049053C>T	ENSP00000337452:p.Asp256Asn					NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N|NIPA1_ENST00000337435.4_Missense_Mutation_p.D256N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N	p.D181N			Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	1838	-		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)	256					B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.541G>A	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929927	0.18131	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.87887	-2.31;-2.31;-2.31	5.46	5.46	0.80206	.	0.090329	0.85682	D	0.000000	T	0.78394	0.4276	N	0.04880	-0.145	0.47737	D	0.999502	D	0.67145	0.996	P	0.49561	0.615	T	0.76677	-0.2871	10	0.02654	T	1	-31.8615	19.2935	0.94112	0.0:1.0:0.0:0.0	.	256	Q7RTP0	NIPA1_HUMAN	N	256;181;86	ENSP00000337452:D256N;ENSP00000393962:D181N;ENSP00000440957:D86N	ENSP00000337452:D256N	D	-	1	0	NIPA1	20600494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.979000	0.56888	2.572000	0.86782	0.591000	0.81541	GAC		0.612	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		8	164	0	0	0	0.000157383	0	8	164					T	23049053	C	T	23049053	3	4	125	1	0	0	0	0	1	0	0	0	10464	884	31	1	227	1	NIPA1	15	23049053	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		23049053	79482339	140	38876											
NOX5	79400	broad.mit.edu	37	chr15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-													cctccccgacaggtgtcgctCtgctgctgctgctcctcctc					rs370141395		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		7	764						7	764	---	---	---	---	-	69328210	CTG	-	69328208	7	5	125	1	0	1	0	1	0	0	0	0	10601	912	32	0	1179	0	NOX5	15	69328208	In_Frame_Del	DEL	CTG	TCGA-YY-A8LH-01A-11D-A36O-08	46279155	69328208	33203184	141	38877											
MYO9A	4649	broad.mit.edu	37	chr15	72300289	72300289	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tatggctgagagaagagagaAaatcctgggaaaataaaaca	11	4	0	4			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:72300289A>G	ENST00000356056.5	-	8	1730	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	420	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGAGAAAATCCTGGGA	0.343																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1258-1260)Ttc>Ctc		myosin IXA							90	92	91					15																	72300289		2199	4296	6495	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72300289A>G	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.1258T>C	15.37:g.72300289A>G	ENSP00000348349:p.Phe420Leu					MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L	p.F420L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			8	1730	-			420			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1258T>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657601	0.88154	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87256	-2.23;-2.23;-2.23	5.28	5.28	0.74379	Myosin head, motor domain (2);	.	.	.	.	D	0.89966	0.6868	L	0.59436	1.845	0.80722	D	1	D;P;P;P	0.69078	0.997;0.474;0.794;0.859	P;P;P;P	0.59643	0.861;0.523;0.523;0.781	D	0.90607	0.4549	9	0.72032	D	0.01	.	11.2077	0.48780	0.8465:0.1535:0.0:0.0	.	401;420;401;420	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	L	420;420;401;401;420	ENSP00000348349:F420L;ENSP00000399162:F420L;ENSP00000398250:F401L	ENSP00000261864:F401L	F	-	1	0	MYO9A	70087343	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.834000	0.75339	2.107000	0.64212	0.460000	0.39030	TTC		0.343	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		5	300	0	0	0	0.00116845	0	5	300					G	72300289	A	G	72300289	3	3	125	1	0	0	0	0	1	0	0	0	10125	14	1	4	6528	4	MYO9A	15	72300289	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	2972081	72300289	30231103	142	38878											
BLM	641	broad.mit.edu	37	chr15	91303899	91303899	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtggagatacaggccTgattcacttgatggccctat	10	9	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:91303899T>C	ENST00000355112.3	+	7	1414	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	BLM_ENST00000560509.1_Silent_p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	432	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATACAGGCCTGATTCACTTG	0.418			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"Mis, N, F"	Bloom Syndrome			"L, E"		"leukemia, lymphoma, skin squamous cell , other cancers"			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1294-1296)ccT>ccC	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							121	122	122					15																	91303899		2198	4298	6496	SO:0001819	synonymous_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91303899T>C	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.1296T>C	15.37:g.91303899T>C						BLM_ENST00000560509.1_Silent_p.P432P	p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1414	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		432					Q52M96	Silent	SNP	ENST00000355112.3	37	c.1296T>C	CCDS10363.1																																																																																				0.418	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			7	856	0	0	0	0.000157383	0	7	856					C	91303899	T	C	91303899	2	2	125	1	0	0	0	0	0	0	0	1	1447	1567	55	4		4	BLM	15	91303899	Silent	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	19003610	91303899	11227493	143	38879											
ABCA3	21	broad.mit.edu	37	chr16	2347398	2347398	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttggccatgatggcgatgCggtctcccagcaggtcagcc	13	14	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:2347398C>T	ENST00000301732.5	-	17	2895	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	732	ABC transporter 1. {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)	GATGGCGATGCGGTCTCCCAG	0.632																																						ENST00000301732.5																			0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2194-2196)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 3							142	104	117					16																	2347398		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347398C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2195G>A	16.37:g.2347398C>T	ENSP00000301732:p.Arg732His					ABCA3_ENST00000382381.3_Missense_Mutation_p.R674H	p.R732H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2895	-		Ovarian(90;0.17)	732			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2195G>A	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497450	0.96355	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.79247	-1.25	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.88276	0.6393	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.88026	0.2772	10	0.87932	D	0	.	19.4575	0.94900	0.0:1.0:0.0:0.0	.	732;736;732	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	H	732;736	ENSP00000301732:R732H	ENSP00000301732:R732H	R	-	2	0	ABCA3	2287399	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGC		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		5	327	0	0	0	0.000602214	0	5	327					T	2347398	C	T	2347398	3	4	125	1	0	0	0	0	1	0	0	0	33	768	27	1	2987	1	ABCA3	16	2347398	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		2347398	88007355	144	38880											
CRISPLD2	83716	broad.mit.edu	37	chr16	84914128	84914128	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ttttcagaatccattgtccgGcacactgcaaagacgaacct	7	12	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:84914128G>A	ENST00000262424.5	+	13	1467	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A415T|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A414T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	415	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.A415P(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCATTGTCCGGCACACTGCAA	0.433																																						ENST00000262424.5																			1	Substitution - Missense(1)	p.A415P(1)	lung(1)	endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(1243-1245)Gca>Aca		cysteine-rich secretory protein LCCL domain containing 2							178	168	172					16																	84914128		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84914128G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1243G>A	16.37:g.84914128G>A	ENSP00000262424:p.Ala415Thr					CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A414T|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A415T	p.A415T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			13	1467	+			415			LCCL 2.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.1243G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729979	0.30684	.	.	ENSG00000103196	ENST00000262424	D	0.90261	-2.64	5.25	2.08	0.27032	LCCL (5);	0.260679	0.39909	N	0.001226	D	0.90638	0.7064	M	0.88031	2.925	0.39557	D	0.96906	P;B	0.41366	0.747;0.317	B;B	0.44108	0.441;0.124	D	0.85611	0.1258	10	0.32370	T	0.25	.	5.2677	0.15607	0.0815:0.143:0.6276:0.1478	.	415;415	Q9H0B8;Q9H0B8-2	CRLD2_HUMAN;.	T	415	ENSP00000262424:A415T	ENSP00000262424:A415T	A	+	1	0	CRISPLD2	83471629	0.990000	0.36364	0.002000	0.10522	0.003000	0.03518	2.458000	0.45014	0.167000	0.19631	0.655000	0.94253	GCA		0.433	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		6	681	0	0	0	0.000157383	0	6	681					A	84914128	G	A	84914128	3	1	125	1	0	0	0	0	1	0	0	0	3892	1203	42	2	1289	2	CRISPLD2	16	84914128	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	82566730	84914128	5440625	145	38881											
APRT	353	broad.mit.edu	37	chr16	88877975	88877975	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgcgatgtagtcgatgCggcccccgtgggtcgccttc	14	15	0	0	rs370646722		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:88877975C>T	ENST00000378364.3	-	2	214	c.170G>A	c.(169-171)cGc>cAc	p.R57H	APRT_ENST00000563655.1_Missense_Mutation_p.R57H|APRT_ENST00000426324.2_Missense_Mutation_p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	57					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)	GTAGTCGATGCGGCCCCCGTG	0.716																																						ENST00000378364.3																			0				cervix(1)|endometrium(1)|liver(1)	3						c.(169-171)cGc>cAc		adenine phosphoribosyltransferase	Adenine(DB00173)|Adenosine monophosphate(DB00131)						8	8	8					16																	88877975		2116	4182	6298	SO:0001583	missense	353				purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding	g.chr16:88877975C>T		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.170G>A	16.37:g.88877975C>T	ENSP00000367615:p.Arg57His					APRT_ENST00000563655.1_Missense_Mutation_p.R57H|APRT_ENST00000426324.2_Missense_Mutation_p.R57H	p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0477)	2	214	-			57					G5E9J2|Q3KP55|Q68DF9	Missense_Mutation	SNP	ENST00000378364.3	37	c.170G>A	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610499	0.46527	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99369	-3.3;-5.78	4.63	-0.359	0.12571	Phosphoribosyltransferase (1);	0.950123	0.08812	N	0.890115	D	0.95510	0.8541	N	0.03891	-0.335	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	D	0.90882	0.4754	10	0.72032	D	0.01	-3.3317	9.307	0.37881	0.0:0.5341:0.0:0.4659	.	57;57	G5E9J2;P07741	.;APT_HUMAN	H	57	ENSP00000367615:R57H;ENSP00000397007:R57H	ENSP00000367615:R57H	R	-	2	0	APRT	87405476	0.001000	0.12720	0.026000	0.17262	0.926000	0.56050	0.200000	0.17257	-0.387000	0.07809	0.313000	0.20887	CGC		0.716	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		4	50	0	0	0	0.000602214	0	4	50					T	88877975	C	T	88877975	3	4	125	1	0	0	0	0	1	0	0	0	819	768	27	1	388	1	APRT	16	88877975	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	3963847	88877975	1476778	146	38882											
POLR2A	5430	broad.mit.edu	37	chr17	7416998	7416998	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgacctcaccaagttactcCccttccagcccacgatacac	4	20	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:7416998C>T	ENST00000322644.6	+	29	5814	c.5415C>T	c.(5413-5415)tcC>tcT	p.S1805S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1805	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAAGTTACTCCCCTTCCAGCC	0.572																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(5413-5415)tcC>tcT		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							468	447	454					17																	7416998		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7416998C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5415C>T	17.37:g.7416998C>T							p.S1805S	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			29	5814	+		Prostate(122;0.173)	1805			52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.5415C>T	CCDS32548.1																																																																																				0.572	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		112	757	0	0	0	0.000781405	0	112	757					T	7416998	C	T	7416998	2	4	125	1	0	0	0	0	0	0	0	1	12256	610	22	2		2	POLR2A	17	7416998	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		7416998	73778212	147	38883											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216367	8216367	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtcccccgtcgggcctccccGctgcggacctctcgctcccg	11	22	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	243					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						GGGCCTCCCCGCTGCGGACCT	0.697																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(727-729)ccG>ccA		Rho guanine nucleotide exchange factor (GEF) 15							50	56	54					17																	8216367		2203	4299	6502	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8216367G>A	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.729G>A	17.37:g.8216367G>A						ARHGEF15_ENST00000421050.1_Silent_p.P243P	p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			3	839	+			243					A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.729G>A	CCDS11139.1																																																																																				0.697	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		12	269	0	0	0	0.000978159	0	12	269					A	8216367	G	A	8216367	2	1	125	1	0	0	0	0	0	0	0	1	898	1074	38	1		1	ARHGEF15	17	8216367	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	799369	8216367	72978843	148	38884											
MYH4	4622	broad.mit.edu	37	chr17	10350494	10350494	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	cagttgttccttaaggtcatCttggcctctgatggcatcat	9	10	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:10350494C>T	ENST00000255381.2	-	35	5115	c.5005G>A	c.(5005-5007)Gat>Aat	p.D1669N	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	1669					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.D1669N(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						TTAAGGTCATCTTGGCCTCTG	0.478																																						ENST00000255381.2																			1	Substitution - Missense(1)	p.D1669N(1)	central_nervous_system(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5005-5007)Gat>Aat		myosin, heavy chain 4, skeletal muscle							129	106	113					17																	10350494		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350494C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5005G>A	17.37:g.10350494C>T	ENSP00000255381:p.Asp1669Asn					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.D1669N	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			35	5115	-			1669						Missense_Mutation	SNP	ENST00000255381.2	37	c.5005G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200015	0.94997	.	.	ENSG00000141048	ENST00000255381	T	0.79845	-1.31	5.29	5.29	0.74685	Myosin tail (1);	0.189171	0.25052	U	0.033501	D	0.86226	0.5882	M	0.85197	2.74	0.52099	D	0.999943	P	0.37781	0.608	B	0.42462	0.388	D	0.88012	0.2763	10	0.72032	D	0.01	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1669	Q9Y623	MYH4_HUMAN	N	1669	ENSP00000255381:D1669N	ENSP00000255381:D1669N	D	-	1	0	MYH4	10291219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.763000	0.85283	2.646000	0.89796	0.563000	0.77884	GAT		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		21	167	0	0	0	0.00152264	0	21	167					T	10350494	C	T	10350494	3	4	125	1	0	0	0	0	1	0	0	0	10078	913	32	2	838	2	MYH4	17	10350494	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2134127	10350494	70844716	149	38885											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	10	13	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.P113P|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115	112	113					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"polyubiquitin B"	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	293	0	0	0	0.00116845	0	5	293					C	16285560	T	C	16285560	2	2	125	1	0	0	0	0	0	0	0	1	16895	1538	54	4		4	UBB	17	16285560	Silent	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	5935066	16285560	64909650	150	38886											
MYO1D	4642	broad.mit.edu	37	chr17	31094737	31094737	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	gactttcatggcatcagcaaCaactctgaattcggcagcat	8	11	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:31094737C>G	ENST00000318217.5	-	7	1052	c.748G>C	c.(748-750)Gtt>Ctt	p.V250L	MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	250	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GCATCAGCAACAACTCTGAAT	0.388																																						ENST00000318217.5																			0				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						c.(748-750)Gtt>Ctt		myosin ID							100	84	90					17																	31094737		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31094737C>G	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.748G>C	17.37:g.31094737C>G	ENSP00000324527:p.Val250Leu					MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L|MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L	p.V250L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		7	1052	-			250			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.748G>C	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288156	0.95517	.	.	ENSG00000176658	ENST00000318217	D	0.86627	-2.15	6.0	6.0	0.97389	Myosin head, motor domain (2);	0.000000	0.35646	U	0.003065	D	0.89329	0.6684	L	0.45698	1.435	0.58432	D	0.999999	P;P	0.51933	0.949;0.913	P;P	0.53760	0.734;0.649	D	0.89435	0.3719	10	0.62326	D	0.03	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	161;250	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	250	ENSP00000324527:V250L	ENSP00000324527:V250L	V	-	1	0	MYO1D	28118850	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.487000	0.81328	2.848000	0.98002	0.655000	0.94253	GTT		0.388	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			5	327	0	0	0	0.00116845	0	5	327					G	31094737	C	G	31094737	3	3	125	1	0	0	0	0	1	0	0	0	10112	478	17	5	2336	5	MYO1D	17	31094737	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	14809177	31094737	50100473	151	38887											
HNF1B	6928	broad.mit.edu	37	chr17	36091686	36091687	+	Frame_Shift_Ins	INS	-	-	AT													ggttggagctataggcgtccINSatggccagcttttgccggaa					rs138337706		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:36091686_36091687insAT	ENST00000225893.4	-	4	1305_1306	c.944_945insAT	c.(943-945)atgfs	p.M315fs	HNF1B_ENST00000427275.2_Frame_Shift_Ins_p.M289fs|HNF1B_ENST00000560016.1_Frame_Shift_Ins_p.M315fs|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.M289fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	315					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TATAGGCGTCCATGGCCAGCTT	0.599																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(943-945)agafs		HNF1 homeobox B																																				SO:0001589	frameshift_variant	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36091686_36091687insAT	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"Homeoboxes / HNF class"	11630	protein-coding gene	gene with protein product		189907	"transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.943_944dupAT	17.37:g.36091687_36091688dupAT	ENSP00000225893:p.Met315fs					HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.R289fs|HNF1B_ENST00000560016.1_Frame_Shift_Ins_p.R315fs|HNF1B_ENST00000427275.2_Frame_Shift_Ins_p.R289fs	p.R315fs	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		4	1305_1306	-		Breast(25;0.00765)|Ovarian(249;0.15)	315					B4DKM3|E0YMJ9	Frame_Shift_Ins	INS	ENST00000225893.4	37	c.944_945insAT	CCDS11324.1																																																																																				0.599	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		17	223						17	223	---	---	---	---	AT	36091687	-	AT	36091686	7	5	125	1	0	1	1	0	0	0	0	0	7282	594	21	0	752	0	HNF1B	17	36091686	Frame_Shift_Ins	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	4996949	36091686	45103524	152	38888											
KRT17	3872	broad.mit.edu	37	chr17	39778723	39778723	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	cctgcgcaggccattgatgtCggcctccacactcaggcgca	11	16	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:39778723C>A	ENST00000311208.8	-	3	623	c.556G>T	c.(556-558)Gac>Tac	p.D186Y	JUP_ENST00000540235.1_Missense_Mutation_p.D345Y	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	186	Coil 1B.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCATTGATGTCGGCCTCCACA	0.612																																					Pancreas(92;1242 2086 39193 50508)	ENST00000540235.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23						c.(1033-1035)Gac>Tac		junction plakoglobin							66	68	68					17																	39778723		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39778723C>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.556G>T	17.37:g.39778723C>A	ENSP00000308452:p.Asp186Tyr					KRT17_ENST00000311208.8_Missense_Mutation_p.D186Y	p.D345Y			P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	6	1032	-		Breast(137;0.000162)	0					A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1033G>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663356	0.88251	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.90197	-2.63;-2.63	4.31	4.31	0.51392	Filament (1);	0.000000	0.46758	D	0.000279	D	0.97133	0.9063	H	0.97291	3.975	0.48571	D	0.999672	D	0.89917	1.0	D	0.83275	0.996	D	0.98740	1.0716	10	0.87932	D	0	.	17.3475	0.87313	0.0:1.0:0.0:0.0	.	186	Q04695	K1C17_HUMAN	Y	186;345	ENSP00000308452:D186Y;ENSP00000441751:D345Y	ENSP00000441751:D345Y	D	-	1	0	JUP;KRT17	37032249	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.651000	0.83577	2.390000	0.81377	0.655000	0.94253	GAC		0.612	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		7	397	1	0	0.000274275	0.000274275	0.00119304	7	397					A	39778723	C	A	39778723	3	1	125	1	0	0	0	0	1	0	0	0	8484	884	31	3	766	3	KRT17	17	39778723	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	3687037	39778723	41416487	153	38889											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839935	40839935	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	ggccacgtggagctgacgctCagcgaagggcaggtcaacgt	16	11	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:40839935C>A	ENST00000264638.4	+	8	1459	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	414	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCTGACGCTCAGCGAAGGGC	0.637																																						ENST00000264638.4																			0				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						c.(1240-1242)ctC>ctA		contactin associated protein 1							58	57	57					17																	40839935		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839935C>A	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.1242C>A	17.37:g.40839935C>A						CTD-3193K9.3_ENST00000592440.1_RNA	p.L414L	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1459	+		Breast(137;0.000143)	414			Laminin G-like 2.			Silent	SNP	ENST00000264638.4	37	c.1242C>A	CCDS11436.1																																																																																				0.637	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		11	392	1	0	0.00136819	0.00136819	0.0056713	11	392					A	40839935	C	A	40839935	2	1	125	1	0	0	0	0	0	0	0	1	3655	813	29	3		3	CNTNAP1	17	40839935	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1061212	40839935	40355275	154	38890											
RNF43	54894	broad.mit.edu	37	chr17	56434978	56434978	+	Missense_Mutation	SNP	G	G	A	1	0	0	1	0	1	1	0	1	1	0	1	accacactggctgtgaatttGagtaacaggggcctggggtt	14	8	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56434978G>A	ENST00000584437.1	-	8	4114	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L			Q68DV7	RNF43_HUMAN	ring finger protein 43	720	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGAATTTGAGTAACAGGG	0.592																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(2158-2160)tCa>tTa		ring finger protein 43							83	88	86					17																	56434978		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434978G>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2159C>T	17.37:g.56434978G>A	ENSP00000463069:p.Ser720Leu					RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L	p.S720L			Q68DV7	RNF43_HUMAN			8	4114	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		720			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2159C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720039	0.48728	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08807	3.19;3.05	5.71	5.71	0.89125	.	0.652107	0.13771	N	0.363914	T	0.10337	0.0253	N	0.19112	0.55	0.25753	N	0.985036	B;P;B	0.41131	0.13;0.739;0.079	B;P;B	0.45232	0.149;0.474;0.071	T	0.20940	-1.0260	10	0.66056	D	0.02	-8.0908	15.33	0.74200	0.0:0.0:1.0:0.0	.	679;720;720	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	720;679	ENSP00000385328:S720L;ENSP00000441969:S679L	ENSP00000385328:S720L	S	-	2	0	RNF43	53789977	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	3.986000	0.56937	2.698000	0.92095	0.511000	0.50034	TCA		0.592	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		37	284	0	0	0	0.000814825	0	37	284					A	56434978	G	A	56434978	3	1	125	1	0	0	0	0	1	0	0	0	13545	1294	45	2	200	2	RNF43	17	56434978	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	15595043	56434978	24760232	155	38891											
RNF43	54894	broad.mit.edu	37	chr17	56435356	56435356	+	Frame_Shift_Del	DEL	G	G	-													atctggtgacttgctgatcaGgagaaggtggctctggctgg							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56435356delG	ENST00000584437.1	-	8	3736	c.1781delC	c.(1780-1782)cctfs	p.P594fs	RNF43_ENST00000577716.1_Frame_Shift_Del_p.P594fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Frame_Shift_Del_p.P553fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.P553fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.P594fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.P467fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	594	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGCTGATCAGGAGAAGGTGG	0.652																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(1780-1782)ctfs		ring finger protein 43							65	77	73					17																	56435356		2201	4300	6501	SO:0001589	frameshift_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435356delG		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1781delC	17.37:g.56435356delG	ENSP00000463069:p.Pro594fs					RNF43_ENST00000581868.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.P594fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.P553fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.P594fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Del_p.P467fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.P553fs	p.P594fs			Q68DV7	RNF43_HUMAN			8	3736	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		594			Pro-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	ENST00000584437.1	37	c.1781delC	CCDS11607.1																																																																																				0.652	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		53	413						53	413	---	---	---	---	-	56435356	G	-	56435356	7	5	125	1	0	1	0	1	0	0	0	0	13545	1000	35	0	578	0	RNF43	17	56435356	Frame_Shift_Del	DEL	G	TCGA-YY-A8LH-01A-11D-A36O-08	378	56435356	24759854	156	38892											
RNF43	54894	broad.mit.edu	37	chr17	56448366	56448366	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctccagattgtcgtcatcaCtggcattgcacaggtacagc	10	12	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56448366C>A	ENST00000584437.1	-	2	2236	c.281G>T	c.(280-282)aGt>aTt	p.S94I	RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000577625.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43	94					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCGTCATCACTGGCATTGCA	0.582																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(280-282)aGt>aTt		ring finger protein 43							86	71	76					17																	56448366		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56448366C>A		CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.281G>T	17.37:g.56448366C>A	ENSP00000463069:p.Ser94Ile					RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000500597.2_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_5'UTR|RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000577625.1_5'UTR|RNF43_ENST00000583753.1_Intron	p.S94I			Q68DV7	RNF43_HUMAN			2	2236	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		94					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.281G>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006071	0.93287	.	.	ENSG00000108375	ENST00000407977	T	0.47177	0.85	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.27053	0.805	0.80722	D	1	D	0.57257	0.979	P	0.60415	0.874	T	0.41787	-0.9489	10	0.22706	T	0.39	-22.6639	18.2765	0.90085	0.0:1.0:0.0:0.0	.	94	Q68DV7	RNF43_HUMAN	I	94	ENSP00000385328:S94I	ENSP00000385328:S94I	S	-	2	0	RNF43	53803365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.495000	0.73665	2.555000	0.86185	0.655000	0.94253	AGT		0.582	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		59	112	1	0	2.43698e-19	0.000781405	1.23841e-18	59	112					A	56448366	C	A	56448366	3	1	125	1	0	0	0	0	1	0	0	0	13545	565	20	3	2102	3	RNF43	17	56448366	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	13010	56448366	24746844	157	38893											
HSF5	124535	broad.mit.edu	37	chr17	56557381	56557381	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgggctgcagtgtataGgtaacctcagttggaaacct	13	8	1	0	rs115372024	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56557381G>A	ENST00000323777.3	-	2	907	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	266					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)					GCAGTGTATAGGTAACCTCAG	0.478													G|||	16	0.00319489	0.0113	0.0014	5008	,	,		18766	0.0		0.0	False		,,,				2504	0.0					ENST00000323777.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16						c.(796-798)acC>acT		heat shock transcription factor family member 5		G		44,4362	46.7+/-81.2	0,44,2159	277	240	253		798	-0.4	1	17	dbSNP_132	253	0,8600		0,0,4300	no	coding-synonymous	HSF5	NM_001080439.1		0,44,6459	AA,AG,GG		0.0,0.9986,0.3383		266/597	56557381	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	124535					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:56557381G>A	BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.798C>T	17.37:g.56557381G>A							p.T266T	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN			2	907	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		266					Q08EH7|Q8N7V2	Silent	SNP	ENST00000323777.3	37	c.798C>T	CCDS32690.1																																																																																				0.478	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190		135	276	0	0	0	0.000781405	0	135	276					A	56557381	G	A	56557381	2	1	125	1	0	0	0	0	0	0	0	1	7429	987	35	2		2	HSF5	17	56557381	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	109015	56557381	24637829	158	38894											
NDUFV2	4729	broad.mit.edu	37	chr18	9126881	9126881	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tattgatgagctcaaggctgGcaaaatcccaaaaccagggc	10	10	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:9126881G>A	ENST00000318388.6	+	7	746	c.632G>A	c.(631-633)gGc>gAc	p.G211D	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000400033.1_Missense_Mutation_p.G214D|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000465096.1_3'UTR	NM_021074.4	NP_066552.2	P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	211					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						CTCAAGGCTGGCAAAATCCCA	0.294																																						ENST00000400033.1																			0				breast(1)|lung(4)|ovary(1)|stomach(1)	7						c.(640-642)gGc>gAc		NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	NADH(DB00157)						123	147	139					18																	9126881		2203	4300	6503	SO:0001583	missense	4729				cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity	g.chr18:9126881G>A	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.632G>A	18.37:g.9126881G>A	ENSP00000327268:p.Gly211Asp					NDUFV2_ENST00000318388.6_Missense_Mutation_p.G211D|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA	p.G214D			P19404	NDUV2_HUMAN			8	758	+			211					Q9BV41	Missense_Mutation	SNP	ENST00000318388.6	37	c.641G>A	CCDS11842.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560585	0.65538	.	.	ENSG00000178127	ENST00000318388;ENST00000400033	T;T	0.53206	0.63;0.63	5.41	5.41	0.78517	Thioredoxin-like fold (2);	0.045334	0.85682	D	0.000000	T	0.52805	0.1757	M	0.76328	2.33	0.80722	D	1	B	0.17465	0.022	B	0.22386	0.039	T	0.51474	-0.8701	10	0.48119	T	0.1	-9.1245	17.734	0.88387	0.0:0.0:1.0:0.0	.	211	P19404	NDUV2_HUMAN	D	211;214	ENSP00000327268:G211D;ENSP00000382908:G214D	ENSP00000327268:G211D	G	+	2	0	NDUFV2	9116881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.698000	0.98700	2.688000	0.91661	0.655000	0.94253	GGC		0.294	NDUFV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254475.2	NM_021074		7	892	0	0	0	0.000602214	0	7	892					A	9126881	G	A	9126881	3	1	125	1	0	0	0	0	1	0	0	0	10342	1203	42	2	658	2	NDUFV2	18	9126881	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		9126881	68950367	159	38895											
LAMA3	3909	broad.mit.edu	37	chr18	21355821	21355821	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	caggccgctgtcactgcaagCcaaatttccacggagacaac	9	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21355821C>G	ENST00000313654.9	+	10	1580	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	447	Domain V.|Laminin EGF-like 3. {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)					TCACTGCAAGCCAAATTTCCA	0.498																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1339-1341)Cca>Gca		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						78	75	76					18																	21355821		1972	4163	6135	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21355821C>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1339C>G	18.37:g.21355821C>G	ENSP00000324532:p.Pro447Ala					LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			10	1580	+	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)		447			Domain V.|Laminin EGF-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1339C>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.523	0.657060	0.14580	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.62105	0.05;0.05	4.76	1.88	0.25563	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.53158	0.1779	L	0.58510	1.815	0.48288	D	0.99962	B;B;B	0.34399	0.452;0.216;0.064	B;B;B	0.36567	0.228;0.069;0.069	T	0.37596	-0.9699	9	0.18710	T	0.47	.	7.7107	0.28675	0.0:0.7066:0.1346:0.1588	.	447;447;447	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	A	447;447;445;447	ENSP00000324532:P447A;ENSP00000382432:P447A	ENSP00000324532:P447A	P	+	1	0	LAMA3	19609819	0.034000	0.19679	0.358000	0.25811	0.709000	0.40893	0.580000	0.23803	0.603000	0.29913	-0.186000	0.12905	CCA		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		6	370	0	0	0	0.00198382	0	6	370					G	21355821	C	G	21355821	3	3	125	1	0	0	0	0	1	0	0	0	8638	739	26	5	1377	5	LAMA3	18	21355821	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	12228940	21355821	56721427	160	38896											
C18orf34	374864	broad.mit.edu	37	chr18	30846964	30846964	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtacatgccaaagaaAtagctgaaaaatcttttgca	7	6	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:30846964A>G	ENST00000383096.3	-	14	1507	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	442																	TGCCAAAGAAATAGCTGAAAA	0.269																																						ENST00000383096.3																			0											c.(1324-1326)aTt>aCt		coiled-coil domain containing 178							52	52	52					18																	30846964		2203	4289	6492	SO:0001583	missense	374864							g.chr18:30846964A>G	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.1325T>C	18.37:g.30846964A>G	ENSP00000372576:p.Ile442Thr					CCDC178_ENST00000579947.1_Missense_Mutation_p.I442T|CCDC178_ENST00000300227.8_Missense_Mutation_p.I442T|CCDC178_ENST00000403303.1_Missense_Mutation_p.I442T|CCDC178_ENST00000406524.2_Missense_Mutation_p.I442T|CCDC178_ENST00000402325.1_Missense_Mutation_p.I442T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I442T	p.I442T							14	1507	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.1325T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237027	0.10023	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	4.16	4.16	0.48862	.	.	.	.	.	T	0.39332	0.1074	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.46784	0.884;0.884;0.884;0.884	P;P;P;P	0.48677	0.503;0.586;0.509;0.586	T	0.13072	-1.0523	9	0.30078	T	0.28	0.483	9.8834	0.41247	1.0:0.0:0.0:0.0	.	442;442;442;442	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	T	442	ENSP00000385591:I442T;ENSP00000372576:I442T;ENSP00000300227:I442T;ENSP00000385867:I442T;ENSP00000385234:I442T	ENSP00000300227:I442T	I	-	2	0	C18orf34	29100962	0.109000	0.22037	0.005000	0.12908	0.004000	0.04260	3.359000	0.52292	2.101000	0.63845	0.377000	0.23210	ATT		0.269	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		25	343	0	0	0	0.000878237	0	25	343					G	30846964	A	G	30846964	3	3	125	1	0	0	0	0	1	0	0	0	1909	101	4	4	1318	4	C18orf34	18	30846964	Missense_Mutation	SNP	A	TCGA-YY-A8LH-01A-11D-A36O-08	9491143	30846964	47230284	161	38897											
TCEB3B	51224	broad.mit.edu	37	chr18	44559687	44559687	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tccttgaagtatcataaggcGtcttggccacagatttgaaa	9	8	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:44559687G>A	ENST00000332567.4	-	1	2301	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	650	Activation domain. {ECO:0000250}.				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						ATCATAAGGCGTCTTGGCCAC	0.537																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1948-1950)aCg>aTg		transcription elongation factor B polypeptide 3B (elongin A2)							132	133	133					18																	44559687		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559687G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1949C>T	18.37:g.44559687G>A	ENSP00000331302:p.Thr650Met					KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	p.T650M	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	2301	-			650			Activation domain (By similarity).		Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1949C>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307100	0.23821	.	.	ENSG00000206181	ENST00000332567	T	0.07216	3.21	1.4	-0.709	0.11237	.	0.754074	0.11156	U	0.593616	T	0.16471	0.0396	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.15636	-1.0430	10	0.62326	D	0.03	-1.8221	6.9376	0.24474	0.0:0.5733:0.4267:0.0	.	650	Q8IYF1	ELOA2_HUMAN	M	650	ENSP00000331302:T650M	ENSP00000331302:T650M	T	-	2	0	TCEB3B	42813685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.276000	0.18716	-0.250000	0.09555	-0.222000	0.12452	ACG		0.537	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		261	595	0	0	0	0.000781405	0	261	595					A	44559687	G	A	44559687	3	1	125	1	0	0	0	0	1	0	0	0	15734	1145	40	1	316	1	TCEB3B	18	44559687	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	13712723	44559687	33517561	162	38898											
CNN2	1265	broad.mit.edu	37	chr19	1037794	1037794	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tatgaccccaagtactgcccGcaaggcacagtggccgatgg	12	13	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:1037794G>A	ENST00000263097.4	+	7	1188	c.825G>A	c.(823-825)ccG>ccA	p.P275P	AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Silent_p.P264P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000348419.3_Silent_p.P236P|ABCA7_ENST00000263094.6_5'Flank	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	275					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)		AGTACTGCCCGCAAGGCACAG	0.672																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(823-825)ccG>ccA		calponin 2							52	63	59					19																	1037794		2199	4289	6488	SO:0001819	synonymous_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1037794G>A	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.825G>A	19.37:g.1037794G>A						CNN2_ENST00000348419.3_Silent_p.P236P|CNN2_ENST00000562958.2_Silent_p.P296P|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Silent_p.P264P	p.P275P	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1188	+		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)	275					A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	c.825G>A	CCDS12053.1																																																																																				0.672	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		6	451	0	0	0	0.00116845	0	6	451					A	1037794	G	A	1037794	2	1	125	1	0	0	0	0	0	0	0	1	3619	1074	38	1		1	CNN2	19	1037794	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		1037794	58091189	163	38899											
ZNF555	148254	broad.mit.edu	37	chr19	2852530	2852530	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaagtcttcatgcatcgccGcacatccctcaagagtccca	6	15	3	1	rs370507327		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:2852530G>A	ENST00000334241.4	+	4	605	c.467G>A	c.(466-468)cGc>cAc	p.R156H	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCATCGCCGCACATCCCTC	0.468																																						ENST00000334241.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23						c.(466-468)cGc>cAc		zinc finger protein 555							157	138	145					19																	2852530		2203	4300	6503	SO:0001583	missense	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2852530G>A	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"Zinc fingers, C2H2-type", "-"	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.467G>A	19.37:g.2852530G>A	ENSP00000334853:p.Arg156His					AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H	p.R156H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	605	+			156					A8KA89|K7EQM2|Q8NA46|Q96MP1	Missense_Mutation	SNP	ENST00000334241.4	37	c.467G>A	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	7.901	0.734449	0.15574	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.76448	-1.02	3.4	-6.8	0.01709	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54062	0.1835	N	0.20685	0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42965	-0.9420	9	0.12430	T	0.62	.	7.4147	0.27038	0.2247:0.2852:0.4901:0.0	.	156;155	Q8NEP9;A8KA89	ZN555_HUMAN;.	H	156;155	ENSP00000334853:R156H	ENSP00000334853:R156H	R	+	2	0	ZNF555	2803530	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.082000	0.14847	-1.664000	0.01479	-1.567000	0.00876	CGC		0.468	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		5	379	0	0	0	0.00116845	0	5	379					A	2852530	G	A	2852530	3	1	125	1	0	0	0	0	1	0	0	0	18039	1087	38	1	481	1	ZNF555	19	2852530	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1814736	2852530	56276453	164	38900											
RPL36	25873	broad.mit.edu	37	chr19	5691442	5691442	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccaaggacaaacgggCcctcaaatttatcaagaaaa	8	10	3	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:5691442C>T	ENST00000577222.1	+	5	750	c.206C>T	c.(205-207)gCc>gTc	p.A69V	RPL36_ENST00000579649.1_Missense_Mutation_p.A69V|RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000579446.1_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	69					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						GACAAACGGGCCCTCAAATTT	0.642											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000577222.1																			0				breast(1)|upper_aerodigestive_tract(1)	2						c.(205-207)gCc>gTc		ribosomal protein L36							44	49	47					19																	5691442		2203	4299	6502	SO:0001583	missense	25873				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome	g.chr19:5691442C>T		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.206C>T	19.37:g.5691442C>T	ENSP00000464342:p.Ala69Val		OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	628	RPL36_ENST00000579446.1_Missense_Mutation_p.A69V|RPL36_ENST00000347512.3_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V|RPL36_ENST00000579649.1_Missense_Mutation_p.A69V	p.A69V			Q9Y3U8	RL36_HUMAN			5	750	+			69					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	ENST00000577222.1	37	c.206C>T	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311575	0.81358	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.60920	0.15;0.15	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	T	0.77850	0.4192	H	0.95574	3.69	0.80722	D	1	P	0.48503	0.911	P	0.53360	0.724	D	0.85194	0.1011	10	0.72032	D	0.01	.	14.0553	0.64764	0.0:1.0:0.0:0.0	.	69	Q9Y3U8	RL36_HUMAN	V	69	ENSP00000252543:A69V;ENSP00000378081:A69V	ENSP00000252543:A69V	A	+	2	0	RPL36	5642442	1.000000	0.71417	0.959000	0.39883	0.303000	0.27691	7.568000	0.82369	1.881000	0.54492	0.467000	0.42956	GCC		0.642	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		7	383	0	0	0	0.00198382	0	7	383					T	5691442	C	T	5691442	3	4	125	1	0	0	0	0	1	0	0	0	13636	739	26	2	212	2	RPL36	19	5691442	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2838912	5691442	53437541	165	38901											
TUBB4	10382	broad.mit.edu	37	chr19	6495371	6495371	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccgtgaactgctcggagatgCgcttgaacagctcctggatg	13	11	0	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:6495371C>T	ENST00000264071.2	-	4	1510	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	380					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R380L(1)									CTCGGAGATGCGCTTGAACAG	0.637																																						ENST00000264071.2																			1	Substitution - Missense(1)	p.R380L(1)	lung(1)								c.(1138-1140)cGc>cAc		tubulin, beta 4A class IVa							156	141	146					19																	6495371		2203	4298	6501	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495371C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"Tubulins"	20774	protein-coding gene	gene with protein product	"class IVa beta-tubulin"	602662	"tubulin, beta 4", "tubulin, beta 4 class IVa", "dystonia 4, torsion (autosomal dominant)"	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1139G>A	19.37:g.6495371C>T	ENSP00000264071:p.Arg380His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.R380H	p.R380H			P04350	TBB4_HUMAN			4	1510	-			380					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1139G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189398	0.57909	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.83673	-1.75;-1.75	3.43	3.43	0.39272	.	0.000000	0.64402	U	0.000002	D	0.88187	0.6369	M	0.91818	3.245	0.58432	D	0.999991	P	0.48764	0.915	P	0.47118	0.538	D	0.91052	0.4879	10	0.87932	D	0	.	13.6752	0.62449	0.0:1.0:0.0:0.0	.	380	P04350	TBB4A_HUMAN	H	380;380;298	ENSP00000264071:R380H;ENSP00000443590:R380H	ENSP00000264071:R380H	R	-	2	0	TUBB4	6446371	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.681000	0.84073	1.473000	0.48159	0.306000	0.20318	CGC		0.637	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		6	877	0	0	0	0.00198382	0	6	877					T	6495371	C	T	6495371	3	4	125	1	0	0	0	0	1	0	0	0	16812	768	27	1	199	1	TUBB4	19	6495371	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	803929	6495371	52633612	166	38902											
MUC16	94025	broad.mit.edu	37	chr19	9058858	9058858	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggaagaggaatagagttcctCtgtagcactggtggtttcca	13	7	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9058858C>G	ENST00000397910.4	-	3	28791	c.28588G>C	c.(28588-28590)Gag>Cag	p.E9530Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9532	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						TAGAGTTCCTCTGTAGCACTG	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28588-28590)Gag>Cag		mucin 16, cell surface associated							116	116	116					19																	9058858		1961	4150	6111	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058858C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28588G>C	19.37:g.9058858C>G	ENSP00000381008:p.Glu9530Gln						p.E9530Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28791	-			9532			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28588G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223796	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.3	-0.0756	0.13726	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	.	.	.	B	0.16603	0.018	B	0.17979	0.02	T	0.16748	-1.0392	8	0.87932	D	0	.	8.0918	0.30805	0.0:0.5336:0.4664:0.0	.	9530	B5ME49	.	Q	9530	ENSP00000381008:E9530Q	ENSP00000381008:E9530Q	E	-	1	0	MUC16	8919858	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.149000	0.10204	0.072000	0.16694	0.305000	0.20034	GAG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	347	0	0	0	0.000978159	0	12	347					G	9058858	C	G	9058858	3	3	125	1	0	0	0	0	1	0	0	0	10014	922	32	5	15263	5	MUC16	19	9058858	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2563487	9058858	50070125	167	38903											
ZNF709	163051	broad.mit.edu	37	chr19	12575884	12575884	+	Silent	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	caactaagagctttaccacaTtgcttacactgatagggttt	7	9	0	2	rs200559980		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12575884T>C	ENST00000397732.3	-	4	1023	c.852A>G	c.(850-852)caA>caG	p.Q284Q	ZNF709_ENST00000428311.1_Silent_p.Q284Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	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)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACATTGCTTACACT	0.373													T|||	1	0.000199681	0.0	0.0	5008	,	,		20833	0.001		0.0	False		,,,				2504	0.0				GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(850-852)caA>caG		zinc finger protein 709							32	34	34					19																	12575884		2160	4279	6439	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575884T>C	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.852A>G	19.37:g.12575884T>C						CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q284Q	p.Q284Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1023	-			284					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.852A>G	CCDS42504.1																																																																																				0.373	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		142	268	0	0	0	0.000781405	0	142	268					C	12575884	T	C	12575884	2	2	125	1	0	0	0	0	0	0	0	1	18166	1490	52	4		4	ZNF709	19	12575884	Silent	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	3517026	12575884	46553099	168	38904											
FARSA	2193	broad.mit.edu	37	chr19	13039582	13039582	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	ctgctacctggagatcatctCtgggctcagctctgtctctt	9	13	5	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:13039582C>T	ENST00000314606.4	-	5	601	c.583G>A	c.(583-585)Gag>Aag	p.E195K	FARSA_ENST00000588025.1_Missense_Mutation_p.E235K|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Intron	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	195					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAGATCATCTCTGGGCTCAGC	0.627																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(703-705)Gag>Aag		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						114	96	103					19																	13039582		2203	4300	6503	SO:0001583	missense	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039582C>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.583G>A	19.37:g.13039582C>T	ENSP00000320309:p.Glu195Lys					FARSA_ENST00000314606.4_Missense_Mutation_p.E195K|FARSA_ENST00000423140.2_Intron	p.E235K			Q9Y285	SYFA_HUMAN			6	843	-			195					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.703G>A	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517058	0.85495	.	.	ENSG00000179115	ENST00000314606	T	0.68903	-0.36	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.91872	3.25	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.55222	0.771;0.771	D	0.87035	0.2137	10	0.87932	D	0	-15.1624	17.0788	0.86593	0.0:1.0:0.0:0.0	.	195;195	Q6IBR2;Q9Y285	.;SYFA_HUMAN	K	195	ENSP00000320309:E195K	ENSP00000320309:E195K	E	-	1	0	FARSA	12900582	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.952000	0.75989	2.563000	0.86464	0.563000	0.77884	GAG		0.627	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		61	230	0	0	0	0.000781405	0	61	230					T	13039582	C	T	13039582	3	4	125	1	0	0	0	0	1	0	0	0	5704	922	32	2	979	2	FARSA	19	13039582	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	463698	13039582	46089401	169	38905											
ZNF208	7757	broad.mit.edu	37	chr19	22171676	22171676	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	cattgccactcctccagagaGaattctatggccacatccct	6	15	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22171676G>T	ENST00000397126.4	-	2	187	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)				CCTCCAGAGAGAATTCTATGG	0.408																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(37-39)ttC>ttA		zinc finger protein 208							121	131	128					19																	22171676		2203	4300	6503	SO:0001583	missense	7757							g.chr19:22171676G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.39C>A	19.37:g.22171676G>T	ENSP00000380315:p.Phe13Leu					ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L	p.F13L	NM_007153.3	NP_009084.2					2	187	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.39C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805557	0.31961	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.12879	2.64	1.32	-0.37	0.12530	Krueppel-associated box (4);	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	D;B	0.57571	0.98;0.087	P;B	0.60012	0.867;0.084	T	0.12785	-1.0534	8	0.72032	D	0.01	.	3.7697	0.08636	0.0:0.0:0.5735:0.4265	.	13;13	O43345;F8WEA0	ZN208_HUMAN;.	L	13	ENSP00000380315:F13L	ENSP00000380315:F13L	F	-	3	2	ZNF208	21963516	0.005000	0.15991	0.009000	0.14445	0.601000	0.36947	-0.135000	0.10420	0.636000	0.30508	0.281000	0.19383	TTC		0.408	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		23	805	1	0	2.39556e-15	0.00278032	1.21154e-14	23	805					T	22171676	G	T	22171676	3	4	125	1	0	0	0	0	1	0	0	0	17819	933	33	3	3815	3	ZNF208	19	22171676	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	9132094	22171676	36957307	170	38906											
ZNF536	9745	broad.mit.edu	37	chr19	30936183	30936183	+	Missense_Mutation	SNP	G	G	T	1	0	0	1	0	1	0	0	0	0	0	0	agtacgtgttagtgggagcaGatggctccaagcagaaaatg	14	6	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:30936183G>T	ENST00000355537.3	+	2	1861	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	572					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)					AGTGGGAGCAGATGGCTCCAA	0.527																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1714-1716)Gat>Tat		zinc finger protein 536							82	87	85					19																	30936183		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936183G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1714G>T	19.37:g.30936183G>T	ENSP00000347730:p.Asp572Tyr						p.D572Y	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1861	+	Esophageal squamous(110;0.0834)		572					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1714G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973891	0.34848	.	.	ENSG00000198597	ENST00000355537	T	0.46819	0.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51450	-0.8704	10	0.08599	T	0.76	-22.8705	19.4573	0.94900	0.0:0.0:1.0:0.0	.	572;572	A7E228;O15090	.;ZN536_HUMAN	Y	572	ENSP00000347730:D572Y	ENSP00000347730:D572Y	D	+	1	0	ZNF536	35628023	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.435000	0.97529	2.582000	0.87167	0.655000	0.94253	GAT		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		30	326	1	0	5.60225e-13	0.00178596	2.7932e-12	30	326					T	30936183	G	T	30936183	3	4	125	1	0	0	0	0	1	0	0	0	18027	942	33	3	1716	3	ZNF536	19	30936183	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	8764507	30936183	28192800	171	38907											
ZNF585B	92285	broad.mit.edu	37	chr19	37677796	37677796	+	Missense_Mutation	SNP	C	C	T	0	1	1	0	1	0	1	0	1	1	0	1	tttcccacattcactacattCatatagtttttctccggtat	3	11	3	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:37677796C>T	ENST00000532828.2	-	5	894	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ZNF585B_ENST00000527838.1_Silent_p.*158*|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	215					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)			TCACTACATTCATATAGTTTT	0.388																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(643-645)Gaa>Aaa		zinc finger protein 585B							112	113	113					19																	37677796		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677796C>T	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.643G>A	19.37:g.37677796C>T	ENSP00000433773:p.Glu215Lys					ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000527838.1_Silent_p.*158*|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR	p.E215K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	894	-			215					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.643G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	0.207	-1.040081	0.02013	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19250	2.16;2.16	2.78	0.507	0.16967	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.683944	0.12041	N	0.505100	T	0.06280	0.0162	N	0.04148	-0.265	0.09310	N	0.999998	B;B	0.14438	0.006;0.01	B;B	0.12156	0.007;0.007	T	0.37267	-0.9713	10	0.08599	T	0.76	.	0.6148	0.00767	0.1968:0.3698:0.1925:0.2409	.	160;215	E9PQH3;Q52M93	.;Z585B_HUMAN	K	160;215	ENSP00000436774:E160K;ENSP00000433773:E215K	ENSP00000436774:E160K	E	-	1	0	ZNF585B	42369636	0.000000	0.05858	0.080000	0.20451	0.159000	0.22180	-2.725000	0.00808	0.069000	0.16605	-0.384000	0.06662	GAA		0.388	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		8	596	0	0	0	0.000274275	0	8	596					T	37677796	C	T	37677796	3	4	125	1	0	0	0	0	1	0	0	0	18071	835	29	2	1670	2	ZNF585B	19	37677796	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	6741613	37677796	21451187	172	38908											
RYR1	6261	broad.mit.edu	37	chr19	39070714	39070714	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catctcctggacatcgccatGggggtcaagacgctgcgcac	12	14	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:39070714G>A	ENST00000359596.3	+	100	14457	c.14457G>A	c.(14455-14457)atG>atA	p.M4819I	RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I|RYR1_ENST00000355481.4_Missense_Mutation_p.M4814I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4819					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)	ACATCGCCATGGGGGTCAAGA	0.597																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(14440-14442)atG>atA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						134	93	107					19																	39070714		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39070714G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.14457G>A	19.37:g.39070714G>A	ENSP00000352608:p.Met4819Ile					RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I|RYR1_ENST00000359596.3_Missense_Mutation_p.M4819I	p.M4814I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		99	14573	+	all_cancers(60;7.91e-06)		4819		L -> F (in CCD).			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.14442G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962210	0.53400	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98400	-4.91;-4.91;-4.91	4.57	4.57	0.56435	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98040	0.9354	L	0.38953	1.18	0.58432	D	0.999997	D;D	0.54964	0.962;0.969	D;D	0.70227	0.946;0.968	D	0.98600	1.0658	10	0.46703	T	0.11	.	17.129	0.86722	0.0:0.0:1.0:0.0	.	4814;4819	P21817-2;P21817	.;RYR1_HUMAN	I	4819;4814;4814	ENSP00000352608:M4819I;ENSP00000347667:M4814I;ENSP00000354254:M4814I	ENSP00000347667:M4814I	M	+	3	0	RYR1	43762554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.612000	0.98347	2.357000	0.79964	0.462000	0.41574	ATG		0.597	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	314	0	0	0	0.000602214	0	5	314					A	39070714	G	A	39070714	3	1	125	1	0	0	0	0	1	0	0	0	13818	1348	47	2	14855	2	RYR1	19	39070714	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1392918	39070714	20058269	173	38909											
PSG6	5675	broad.mit.edu	37	chr19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctgccggtgggttagagtccGcaaagcaggacaagtcgagg	16	9	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185	196	192					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val					PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1					5	1129	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		8	1079	0	0	0	0.00116845	0	8	1079					A	43411250	G	A	43411250	3	1	125	1	0	0	0	0	1	0	0	0	12706	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	4340536	43411250	15717733	174	38910											
GPR4	2828	broad.mit.edu	37	chr19	46094142	46094142	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgttcctcttggagGtgagtggggtctccagggtg	17	8	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46094142G>T	ENST00000323040.4	-	2	1927	c.983C>A	c.(982-984)aCc>aAc	p.T328N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	328					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)		CCTCTTGGAGGTGAGTGGGGT	0.652																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(982-984)aCc>aAc		G protein-coupled receptor 4							95	85	88					19																	46094142		2203	4300	6503	SO:0001583	missense	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094142G>T	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.983C>A	19.37:g.46094142G>T	ENSP00000319744:p.Thr328Asn					OPA3_ENST00000544371.1_Intron	p.T328N	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1927	-			328					A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	c.983C>A	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674372	0.47781	.	.	ENSG00000177464	ENST00000323040	T	0.61742	0.08	4.53	4.53	0.55603	.	0.190762	0.35378	N	0.003255	T	0.32133	0.0819	N	0.08118	0	0.30785	N	0.741534	B	0.34103	0.437	B	0.27500	0.08	T	0.28870	-1.0030	10	0.19147	T	0.46	.	12.6317	0.56661	0.0:0.0:1.0:0.0	.	328	P46093	GPR4_HUMAN	N	328	ENSP00000319744:T328N	ENSP00000319744:T328N	T	-	2	0	GPR4	50785982	0.977000	0.34250	0.425000	0.26659	0.971000	0.66376	6.583000	0.74053	2.356000	0.79943	0.455000	0.32223	ACC		0.652	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		13	549	1	0	1.5739e-10	0.000422831	7.70189e-10	13	549					T	46094142	G	T	46094142	3	4	125	1	0	0	0	0	1	0	0	0	6723	1261	44	3	109	3	GPR4	19	46094142	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	2682892	46094142	13034841	175	38911											
NANOS2	339345	broad.mit.edu	37	chr19	46417571	46417571	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgtccggccgagttgcgcccGctgcggcggtagagggactg	18	13	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46417571G>A	ENST00000341294.2	-	1	465	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	127					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		AGTTGCGCCCGCTGCGGCGGT	0.667																																						ENST00000341294.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(379-381)agC>agT		nanos homolog 2 (Drosophila)							28	27	28					19																	46417571		2201	4299	6500	SO:0001819	synonymous_variant	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417571G>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.381C>T	19.37:g.46417571G>A							p.S127S	NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	465	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	127					Q17R30|Q4G0P8	Silent	SNP	ENST00000341294.2	37	c.381C>T	CCDS33056.1																																																																																				0.667	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			12	150	0	0	0	0.00244969	0	12	150					A	46417571	G	A	46417571	2	1	125	1	0	0	0	0	0	0	0	1	10193	1078	38	1		1	NANOS2	19	46417571	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	323429	46417571	12711412	176	38912											
ZNF350	59348	broad.mit.edu	37	chr19	52469393	52469393	+	Nonsense_Mutation	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	attttcaaatgcatcatgttCatgacatggtttccttctgt	6	8	4	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52469393C>A	ENST00000243644.4	-	5	540	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	105					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)		GCATCATGTTCATGACATGGT	0.363																																						ENST00000243644.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(313-315)Gaa>Taa		zinc finger protein 350							70	71	71					19																	52469393		2203	4299	6502	SO:0001587	stop_gained	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52469393C>A	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"Zinc fingers, C2H2-type", "-"	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.313G>T	19.37:g.52469393C>A	ENSP00000243644:p.Glu105*					HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA	p.E105*	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	540	-		all_neural(266;0.0505)	105					Q96G73|Q9HAQ4	Nonsense_Mutation	SNP	ENST00000243644.4	37	c.313G>T	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054148	0.55218	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.25	-3.54	0.04653	.	0.733993	0.11162	N	0.592957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	4.1621	0.10289	0.0:0.3024:0.19:0.5075	.	.	.	.	X	105	.	ENSP00000243644:E105X	E	-	1	0	ZNF350	57161205	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.533000	0.06157	-0.395000	0.07715	-0.142000	0.14014	GAA		0.363	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		8	541	1	0	0.000157383	0.000157383	0.000693142	8	541					A	52469393	C	A	52469393	4	1	125	1	0	0	0	0	0	1	0	0	17916	835	29	3	1289	3	ZNF350	19	52469393	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	6051822	52469393	6659590	177	38913											
PPP2R1A	5518	broad.mit.edu	37	chr19	52714630	52714630	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acctggaggcgcactttgtgCcgctagtgaagcggctggcg	16	11	0	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52714630C>T	ENST00000322088.6	+	4	446	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	130	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.			P -> A (in Ref. 1; AAA35531). {ECO:0000305}.	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)		GCACTTTGTGCCGCTAGTGAA	0.657			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"protein phosphatase 2, regulatory subunit A, alpha"			E			clear cell ovarian carcinoma		0				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						c.(388-390)Ccg>Tcg		protein phosphatase 2, regulatory subunit A, alpha							62	66	65					19																	52714630		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52714630C>T		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.388C>T	19.37:g.52714630C>T	ENSP00000324804:p.Pro130Ser					PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	p.P130S	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	4	446	+			130	P -> A (in Ref. 1; AAA35531).		PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.388C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624587	0.46840	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.35973	1.28;1.28	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.43897	0.1268	M	0.85373	2.75	0.58432	D	0.999999	P;P;P	0.37233	0.493;0.588;0.588	B;B;B	0.34301	0.179;0.102;0.102	T	0.56757	-0.7926	10	0.66056	D	0.02	-36.5931	15.0187	0.71609	0.0:1.0:0.0:0.0	.	75;130;130	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	S	120;130;75	ENSP00000324804:P130S;ENSP00000415067:P75S	ENSP00000324804:P130S	P	+	1	0	PPP2R1A	57406442	1.000000	0.71417	0.994000	0.49952	0.038000	0.13279	6.787000	0.75099	2.482000	0.83794	0.655000	0.94253	CCG		0.657	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		5	370	0	0	0	0.000602214	0	5	370					T	52714630	C	T	52714630	3	4	125	1	0	0	0	0	1	0	0	0	12429	739	26	2	402	2	PPP2R1A	19	52714630	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	245237	52714630	6414353	178	38914											
C19orf51	352909	broad.mit.edu	37	chr19	55676757	55676757	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcagccccatcttctcCggttcctccagggctaggct	9	17	2	0	rs371199276		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:55676757C>T	ENST00000524407.2	-	4	336	c.303G>A	c.(301-303)ccG>ccA	p.P101P	DNAAF3_ENST00000391720.4_Silent_p.P148P|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000527223.2_Silent_p.P169P|DNAAF3_ENST00000455045.1_Silent_p.P47P|snoU13_ENST00000459370.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	101					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CCATCTTCTCCGGTTCCTCCA	0.532																																						ENST00000527223.2																			0											c.(505-507)ccG>ccA		dynein, axonemal, assembly factor 3		C		0,3930		0,0,1965	66	71	70		444	-8.2	0.1	19		70	1,8307		0,1,4153	no	coding-synonymous	C19orf51	NM_178837.3		0,1,6118	TT,TC,CC		0.012,0.0,0.0082		148/589	55676757	1,12237	1965	4154	6119	SO:0001819	synonymous_variant	352909							g.chr19:55676757C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.303G>A	19.37:g.55676757C>T						DNAAF3_ENST00000524407.2_Silent_p.P101P|DNAAF3_ENST00000455045.1_Silent_p.P47P|DNAAF3_ENST00000391720.4_Silent_p.P148P|CTD-2587H24.5_ENST00000591665.1_RNA	p.P169P	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			4	508	-			101					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	ENST00000524407.2	37	c.507G>A	CCDS59422.1																																																																																				0.532	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		13	291	0	0	0	0.00185496	0	13	291					T	55676757	C	T	55676757	2	4	125	1	0	0	0	0	0	0	0	1	1940	639	23	1		1	C19orf51	19	55676757	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2962127	55676757	3452226	179	38915											
NCOA6	23054	broad.mit.edu	37	chr20	33337236	33337236	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctgactatttttcttcttcCgagggggtttcttcttcttc	8	10	5	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:33337236C>A	ENST00000374796.2	-	10	5332	c.2762G>T	c.(2761-2763)cGg>cTg	p.R921L	NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	921	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-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						TTTCTTCTTCCGAGGGGGTTT	0.358																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(2761-2763)cGg>cTg		nuclear receptor coactivator 6							96	95	95					20																	33337236		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337236C>A	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.2762G>T	20.37:g.33337236C>A	ENSP00000363929:p.Arg921Leu					NCOA6_ENST00000359003.2_Missense_Mutation_p.R921L	p.R921L			Q14686	NCOA6_HUMAN			10	5332	-			921			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.2762G>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248337	0.80024	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.37584	1.19;1.19	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000008	T	0.51805	0.1696	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.47824	-0.9087	10	0.45353	T	0.12	-13.717	19.464	0.94931	0.0:1.0:0.0:0.0	.	921	Q14686	NCOA6_HUMAN	L	921	ENSP00000363929:R921L;ENSP00000351894:R921L	ENSP00000351894:R921L	R	-	2	0	NCOA6	32800897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.584000	0.87258	0.655000	0.94253	CGG		0.358	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	885	1	0	2.17888e-05	0.000442599	9.97001e-05	7	885					A	33337236	C	A	33337236	3	1	125	1	0	0	0	0	1	0	0	0	10275	652	23	3	3457	3	NCOA6	20	33337236	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08		33337236	29688284	180	38916											
ZHX3	23051	broad.mit.edu	37	chr20	39832133	39832133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggagcgactgggccGcattgaccaccttcacagct	12	14	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:39832133G>A	ENST00000309060.3	-	4	1839	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	475	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.A475V(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGACTGGGCCGCATTGACCAC	0.537																																						ENST00000309060.3																			1	Substitution - Missense(1)	p.A475V(1)	large_intestine(1)	endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1423-1425)gCg>gTg		zinc fingers and homeoboxes 3							72	58	62					20																	39832133		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832133G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1424C>T	20.37:g.39832133G>A	ENSP00000312222:p.Ala475Val					ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V	p.A475V			Q9H4I2	ZHX3_HUMAN			4	1839	-		Myeloproliferative disorder(115;0.00425)	475			Required for homodimerization and interaction with NFYA.|Required for repressor activity.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1424C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.997092	0.35226	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.34859	1.34;2.8;2.8;2.59;1.34	5.93	5.93	0.95920	.	0.242897	0.40469	N	0.001094	T	0.32645	0.0836	L	0.40543	1.245	0.18873	N	0.999981	P;B;P	0.41673	0.532;0.348;0.759	B;B;B	0.37480	0.251;0.102;0.176	T	0.38394	-0.9663	10	0.72032	D	0.01	-9.9771	16.3863	0.83505	0.0:0.1314:0.8686:0.0	.	475;475;475	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	V	475;475;475;475;253;475	ENSP00000312222:A475V;ENSP00000362360:A475V;ENSP00000442290:A475V;ENSP00000443783:A475V;ENSP00000415498:A475V	ENSP00000312222:A475V	A	-	2	0	ZHX3	39265547	0.534000	0.26362	0.181000	0.23098	0.707000	0.40811	2.718000	0.47236	2.815000	0.96918	0.561000	0.74099	GCG		0.537	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	179	0	0	0	0.00116845	0	5	179					A	39832133	G	A	39832133	3	1	125	1	0	0	0	0	1	0	0	0	17730	1087	38	1	1454	1	ZHX3	20	39832133	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	6494897	39832133	23193387	181	38917											
CHD6	84181	broad.mit.edu	37	chr20	40033309	40033309	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttctctctctgcgggcaaaGgggcactgggttcggcacag	15	11	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:40033309G>A	ENST00000373233.3	-	37	8249	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2691					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCGGGCAAAGGGGCACTGGG	0.537																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(8071-8073)cCt>cTt		chromodomain helicase DNA binding protein 6							110	119	116					20																	40033309		2203	4300	6503	SO:0001583	missense	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40033309G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.8072C>T	20.37:g.40033309G>A	ENSP00000362330:p.Pro2691Leu					CHD6_ENST00000480022.1_5'UTR	p.P2691L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			37	8249	-		Myeloproliferative disorder(115;0.00425)	2691					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.8072C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	0.782	-0.762079	0.02996	.	.	ENSG00000124177	ENST00000373233	D	0.85484	-1.99	5.99	-1.45	0.08828	.	0.799456	0.11164	N	0.592701	T	0.68329	0.2989	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51872	-0.8650	10	0.20519	T	0.43	0.3624	7.7246	0.28753	0.1983:0.0893:0.6218:0.0906	.	2691	Q8TD26	CHD6_HUMAN	L	2691	ENSP00000362330:P2691L	ENSP00000362330:P2691L	P	-	2	0	CHD6	39466723	0.115000	0.22152	0.002000	0.10522	0.007000	0.05969	2.706000	0.47135	-0.113000	0.11958	-1.004000	0.02495	CCT		0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			5	585	0	0	0	0.00198382	0	5	585					A	40033309	G	A	40033309	3	1	125	1	0	0	0	0	1	0	0	0	3338	1000	35	2	79	2	CHD6	20	40033309	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	201176	40033309	22992211	182	38918											
ZMYND8	23613	broad.mit.edu	37	chr20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-													ctgggtttgtaggcttgggcTtttttttaacagcagatggc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1903-1905)agfs		zinc finger, MYND-type containing 8							203	199	200					20																	45875072		2203	4300	6503	SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875072delT	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1904delA	20.37:g.45875072delT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs	p.K635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157	-			635					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Frame_Shift_Del	DEL	ENST00000311275.7	37	c.1904delA																																																																																					0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		7	934						7	934	---	---	---	---	-	45875072	T	-	45875072	7	5	125	1	0	1	0	1	0	0	0	0	17764	1609	56	0	1642	0	ZMYND8	20	45875072	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08	5841763	45875072	17150448	183	38919											
DIDO1	11083	broad.mit.edu	37	chr20	61538515	61538515	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgagcaccgcatttcGgaagactgggcttctctggc	11	13	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:61538515G>T	ENST00000266070.4	-	5	1683	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	453					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.P453L(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)					ACCGCATTTCGGAAGACTGGG	0.527																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			1	Substitution - Missense(1)	p.P453L(1)	ovary(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						c.(1357-1359)cCg>cAg		death inducer-obliterator 1							219	190	200					20																	61538515		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61538515G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1358C>A	20.37:g.61538515G>T	ENSP00000266070:p.Pro453Gln					DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q	p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			5	1683	-	Breast(26;5.68e-08)		453					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1358C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504488	0.04261	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18338	3.06;3.06;2.72;2.72;2.22;2.22;2.22;2.23;2.23	4.91	1.78	0.24846	.	0.173706	0.27622	N	0.018547	T	0.11793	0.0287	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.33494	0.239;0.414;0.203;0.128	B;B;B;B	0.28991	0.097;0.097;0.034;0.026	T	0.17258	-1.0375	10	0.36615	T	0.2	-8.571	8.456	0.32899	0.0737:0.0:0.6357:0.2906	.	453;453;453;453	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	Q	453	ENSP00000266070:P453Q;ENSP00000378752:P453Q;ENSP00000378749:P453Q;ENSP00000378744:P453Q;ENSP00000359397:P453Q;ENSP00000359394:P453Q;ENSP00000346692:P453Q;ENSP00000359391:P453Q;ENSP00000266071:P453Q	ENSP00000266070:P453Q	P	-	2	0	DIDO1	61008960	0.105000	0.21958	0.097000	0.21041	0.010000	0.07245	0.494000	0.22467	0.557000	0.29117	0.561000	0.74099	CCG		0.527	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		9	844	1	0	0.000442599	0.000442599	0.00190174	9	844					T	61538515	G	T	61538515	3	4	125	1	0	0	0	0	1	0	0	0	4538	1116	39	3	5542	3	DIDO1	20	61538515	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	15663443	61538515	1487005	184	38920											
CCT8L2	150160	broad.mit.edu	37	chr22	17072527	17072527	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgccatacttgtccgccagtGtgagggtctcctcgtcgacc	11	14	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:17072527G>T	ENST00000359963.3	-	1	1173	c.914C>A	c.(913-915)aCa>aAa	p.T305K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	305					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)				GTCCGCCAGTGTGAGGGTCTC	0.517																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(913-915)aCa>aAa		chaperonin containing TCP1, subunit 8 (theta)-like 2							194	172	179					22																	17072527		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072527G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.914C>A	22.37:g.17072527G>T	ENSP00000353048:p.Thr305Lys						p.T305K	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1173	-	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)	305					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.914C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	6.540	0.467967	0.12402	.	.	ENSG00000198445	ENST00000359963	T	0.74526	-0.85	1.98	-1.43	0.08884	.	1.219940	0.06186	U	0.680487	T	0.64327	0.2588	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.53954	-0.8365	10	0.87932	D	0	-0.7241	5.2737	0.15638	0.5034:0.0:0.4966:0.0	.	305	Q96SF2	TCPQM_HUMAN	K	305	ENSP00000353048:T305K	ENSP00000353048:T305K	T	-	2	0	CCT8L2	15452527	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.513000	0.06305	-0.295000	0.08960	-1.325000	0.01285	ACA		0.517	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			9	475	1	0	0.000442599	0.000442599	0.00190174	9	475					T	17072527	G	T	17072527	3	4	125	1	0	0	0	0	1	0	0	0	2970	1377	48	3	763	3	CCT8L2	22	17072527	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		17072527	34232039	185	38921											
DGCR2	9993	broad.mit.edu	37	chr22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctatcaagagtctcacctgGgtccagacacatgaacttgc	8	13	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S|DGCR11_ENST00000609958.1_RNA|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	335					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GTCTCACCTGGGTCCAGACAC	0.587																																						ENST00000263196.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(1003-1005)Cca>Tca		DiGeorge syndrome critical region gene 2							153	154	154					22																	19035956		2203	4300	6503	SO:0001583	missense	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19035956G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1003C>T	22.37:g.19035956G>A	ENSP00000263196:p.Pro335Ser					DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S	p.P335S	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN			7	1250	-	Colorectal(54;0.0993)		335					A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	ENST00000263196.7	37	c.1003C>T	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711467	0.68730	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97114	0.87;-4.25	5.8	5.8	0.92144	.	0.100398	0.64402	D	0.000001	D	0.95338	0.8487	L	0.46157	1.445	0.80722	D	1	P;P	0.41232	0.743;0.485	B;B	0.38755	0.281;0.146	D	0.94464	0.7679	10	0.34782	T	0.22	.	19.6734	0.95921	0.0:0.0:1.0:0.0	.	291;335	B7Z3T5;P98153	.;IDD_HUMAN	S	294;335	ENSP00000440062:P294S;ENSP00000263196:P335S	ENSP00000263196:P335S	P	-	1	0	DGCR2	17415956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.485000	0.73625	2.735000	0.93741	0.655000	0.94253	CCA		0.587	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		14	421	0	0	0	0.00185496	0	14	421					A	19035956	G	A	19035956	3	1	125	1	0	0	0	0	1	0	0	0	4477	1232	43	2	665	2	DGCR2	22	19035956	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	1963429	19035956	32268610	186	38922											
GNB1L	54584	broad.mit.edu	37	chr22	19794255	19794255	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcgcacactgacgtcTtggagggcatctccagaatc	12	12	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19794255T>A	ENST00000329517.6	-	6	679	c.443A>T	c.(442-444)aAg>aTg	p.K148M	GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	148					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)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CACTGACGTCTTGGAGGGCAT	0.572																																						ENST00000329517.6																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12						c.(442-444)aAg>aTg		guanine nucleotide binding protein (G protein), beta polypeptide 1-like							54	44	47					22																	19794255		2203	4300	6503	SO:0001583	missense	0				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19794255T>A	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	ENST00000329517.6:c.443A>T	22.37:g.19794255T>A	ENSP00000331313:p.Lys148Met					GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M	p.K148M	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN			6	679	-	Colorectal(54;0.0993)		148					Q9H2S2|Q9H4M4	Missense_Mutation	SNP	ENST00000329517.6	37	c.443A>T	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640031	0.87760	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.40756	1.02;1.02;5.0	5.21	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.128959	0.50627	U	0.000116	T	0.52273	0.1724	M	0.77103	2.36	0.49299	D	0.999779	D	0.56746	0.977	P	0.49887	0.625	T	0.57774	-0.7753	10	0.87932	D	0	-3.2795	11.353	0.49598	0.1361:0.0:0.0:0.8639	.	148	Q9BYB4	GNB1L_HUMAN	M	148	ENSP00000331313:K148M;ENSP00000385154:K148M;ENSP00000384626:K148M	ENSP00000331313:K148M	K	-	2	0	GNB1L	18174255	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.204000	0.65180	0.798000	0.33994	-0.333000	0.08304	AAG		0.572	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			5	70	0	0	0	0.000157383	0	5	70					A	19794255	T	A	19794255	3	1	125	1	0	0	0	0	1	0	0	0	6545	1609	56	5	552	5	GNB1L	22	19794255	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	758299	19794255	31510311	187	38923											
SGSM3	27352	broad.mit.edu	37	chr22	40797636	40797636	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tggccctttctcagccctgaCtccgagcatatggccccagg	10	16	1	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:40797636C>G	ENST00000248929.9	+	3	236	c.47C>G	c.(46-48)aCt>aGt	p.T16S	SGSM3_ENST00000454798.2_Intron	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAGCCCTGACTCCGAGCATA	0.567																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(46-48)aCt>aGt		small G protein signaling modulator 3							142	136	138					22																	40797636		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40797636C>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.47C>G	22.37:g.40797636C>G	ENSP00000248929:p.Thr16Ser					SGSM3_ENST00000454798.2_Intron	p.T16S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			3	236	+			16						Missense_Mutation	SNP	ENST00000248929.9	37	c.47C>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814574	0.90790	.	.	ENSG00000100359	ENST00000248929	T	0.13901	2.55	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.71581	2.175	0.80722	D	1	P;P;P	0.48230	0.887;0.907;0.907	P;B;B	0.52217	0.693;0.437;0.437	T	0.01045	-1.1470	10	0.54805	T	0.06	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	16;16;16	Q96HU1-2;B9A6J5;Q96HU1	.;.;SGSM3_HUMAN	S	16	ENSP00000248929:T16S	ENSP00000248929:T16S	T	+	2	0	SGSM3	39127582	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.973000	0.76116	2.749000	0.94314	0.655000	0.94253	ACT		0.567	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		108	226	0	0	0	0.000781405	0	108	226					G	40797636	C	G	40797636	3	3	125	1	0	0	0	0	1	0	0	0	14274	565	20	5	53	5	SGSM3	22	40797636	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	21003381	40797636	10506930	188	38924											
MAGEB6	158809	broad.mit.edu	37	chrX	26213024	26213024	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaacagtgatcctccatGctatgagttcctgtggggtc	12	10	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:26213024G>A	ENST00000379034.1	+	2	1210	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	354	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GATCCTCCATGCTATGAGTTC	0.498																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(1060-1062)tGc>tAc		melanoma antigen family B, 6							66	64	64					X																	26213024		2202	4292	6494	SO:0001583	missense	158809							g.chrX:26213024G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1061G>A	X.37:g.26213024G>A	ENSP00000368320:p.Cys354Tyr						p.C354Y	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	1210	+			354			MAGE.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.1061G>A	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	5.430	0.264533	0.10294	.	.	ENSG00000176746	ENST00000379034	T	0.04706	3.57	3.29	-2.14	0.07123	.	0.617794	0.14414	U	0.321058	T	0.04770	0.0129	M	0.66439	2.03	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.49881	-0.8892	10	0.08381	T	0.77	.	5.8566	0.18722	0.2283:0.511:0.2607:0.0	.	354	Q8N7X4	MAGB6_HUMAN	Y	354	ENSP00000368320:C354Y	ENSP00000368320:C354Y	C	+	2	0	MAGEB6	26122945	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.416000	0.02467	-0.702000	0.05056	-0.957000	0.02645	TGC		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		26	365	0	0	0	0.00209593	0	26	365					A	26213024	G	A	26213024	3	1	125	1	0	0	0	0	1	0	0	0	9220	1319	46	2	1063	2	MAGEB6	23	26213024	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08		26213024	129057536	189	38925											
FAM47C	442444	broad.mit.edu	37	chrX	37028585	37028585	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcctgagactggagtgtcccGtctccacccagagcctccca	9	17	1	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:37028585G>A	ENST00000358047.3	+	1	2154	c.2102G>A	c.(2101-2103)cGt>cAt	p.R701H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	701										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						GGAGTGTCCCGTCTCCACCCA	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2101-2103)cGt>cAt		family with sequence similarity 47, member C							50	49	49					X																	37028585		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028585G>A	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.2102G>A	X.37:g.37028585G>A	ENSP00000367913:p.Arg701His						p.R701H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2154	+			701					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2102G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	0.173	-1.069496	0.01918	.	.	ENSG00000198173	ENST00000358047	T	0.12879	2.64	1.03	-1.87	0.07737	.	.	.	.	.	T	0.04137	0.0115	N	0.01352	-0.895	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.39313	-0.9620	9	0.39692	T	0.17	.	6.6045	0.22718	0.4044:0.0:0.5956:0.0	.	701	Q5HY64	FA47C_HUMAN	H	701	ENSP00000367913:R701H	ENSP00000367913:R701H	R	+	2	0	FAM47C	36938506	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	-0.468000	0.06656	-1.790000	0.01263	-1.767000	0.00664	CGT		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	434	0	0	0	0.000442599	0	7	434					A	37028585	G	A	37028585	3	1	125	1	0	0	0	0	1	0	0	0	5596	1145	40	1	2104	1	FAM47C	23	37028585	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	10815561	37028585	118241975	190	38926											
BCOR	54880	broad.mit.edu	37	chrX	39922163	39922163	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	agcctggcaatcctcttcttCgtctgcacacagcacatctg	7	15	4	0	rs370685925		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39922163C>T	ENST00000378444.4	-	9	4237	c.4009G>A	c.(4009-4011)Gaa>Aaa	p.E1337K	BCOR_ENST00000378463.1_Missense_Mutation_p.E180K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000342274.4_Missense_Mutation_p.E1303K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1337					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						TCCTCTTCTTCGTCTGCACAC	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3907-3909)Gaa>Aaa		BCL6 corepressor		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3833		0,0,0,1631,571	141	112	121		3907,3853,4009,3907	5.7	0.3	X		121	1,6727		0,0,1,2428,1871	no	missense,missense,missense,missense	BCOR	NM_001123383.1,NM_001123384.1,NM_001123385.1,NM_017745.5	56,56,56,56	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1303/1722,1285/1704,1337/1756,1303/1722	39922163	1,10560	2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39922163C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4009G>A	X.37:g.39922163C>T	ENSP00000367705:p.Glu1337Lys					BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1337K|BCOR_ENST00000378463.1_Missense_Mutation_p.E180K	p.E1303K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			9	4269	-			1337					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3907G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518746	0.85495	0.0	1.49E-4	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.70516	-0.42;0.97;1.0;0.98;0.93;0.98;-0.49	5.67	5.67	0.87782	.	.	.	.	.	T	0.75845	0.3905	N	0.19112	0.55	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.78314	0.951;0.991;0.896	T	0.78889	-0.2026	9	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1285;1337;1303	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	207;180;1285;1303;1337;1303;10	ENSP00000408006:E207K;ENSP00000367724:E180K;ENSP00000367716:E1285K;ENSP00000380512:E1303K;ENSP00000367705:E1337K;ENSP00000345923:E1303K;ENSP00000387552:E10K	ENSP00000345923:E1303K	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA		0.532	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		8	138	0	0	0	0.000673444	0	8	138					T	39922163	C	T	39922163	3	4	125	1	0	0	0	0	1	0	0	0	1387	893	31	1	1286	1	BCOR	23	39922163	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2893578	39922163	115348397	191	38927											
BCOR	54880	broad.mit.edu	37	chrX	39934126	39934127	+	Frame_Shift_Ins	INS	-	-	T													ttctgctgtggctacagcacINSttttttgtattccaggcggt							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39934126_39934127insT	ENST00000378444.4	-	4	700_701	c.472_473insA	c.(472-474)agtfs	p.S158fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.S158fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.S158fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.S158fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	158					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						GGCTACAGCACTTTTTTGTATT	0.535			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"F, N, S, T"	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"retinoblastoma, AML, APL(translocation)"		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(472-474)tgcfs		BCL6 corepressor																																				SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934126_39934127insT	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.473dupA	X.37:g.39934132_39934132dupT	ENSP00000367705:p.Ser158fs					BCOR_ENST00000397354.3_Frame_Shift_Ins_p.C158fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.C158fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.C158fs	p.C158fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	834_835	-			158					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	c.472_473insA	CCDS48093.1																																																																																				0.535	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		169	319						169	319	---	---	---	---	T	39934127	-	T	39934126	7	5	125	1	0	1	1	0	0	0	0	0	1387	565	20	0	4842	0	BCOR	23	39934126	Frame_Shift_Ins	INS	-	TCGA-YY-A8LH-01A-11D-A36O-08	11963	39934126	115336434	192	38928											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-													cctcctcctcctcttcctctTcctcttcttcttcttcttcc					rs6614551		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			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)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	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.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		7	73						7	73	---	---	---	---	-	50350713	TCC	-	50350711	7	5	125	1	0	1	0	1	0	0	0	0	14346	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-YY-A8LH-01A-11D-A36O-08	10416585	50350711	104919849	193	38929											
ZXDB	158586	broad.mit.edu	37	chrX	57620752	57620752	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ctactgacaccaaccaaagcGgagtggaacgtacatcctga	9	12	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:57620752G>A	ENST00000374888.1	+	1	2484	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488																																						ENST00000374888.1																			1	Substitution - coding silent(1)	p.A757A(1)	lung(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(2269-2271)gcG>gcA		zinc finger, X-linked, duplicated B							163	124	138					X																	57620752		2203	4300	6503	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620752G>A	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2271G>A	X.37:g.57620752G>A							p.A757A	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	2484	+			757					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.2271G>A	CCDS35313.1																																																																																				0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		87	281	0	0	0	0.000781405	0	87	281					A	57620752	G	A	57620752	2	1	125	1	0	0	0	0	0	0	0	1	18304	1103	39	1		1	ZXDB	23	57620752	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	7270041	57620752	97649808	194	38930											
MAGEE2	139599	broad.mit.edu	37	chrX	75004797	75004797	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgggggacccggaggcGttagtagcttgtatttcacc	16	8	1	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:75004797G>A	ENST00000373359.2	-	1	282	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	30								p.N30N(2)		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						ACCCGGAGGCGTTAGTAGCTT	0.577																																						ENST00000373359.2																			2	Substitution - coding silent(2)	p.N30N(2)	large_intestine(1)|endometrium(1)	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						c.(88-90)aaC>aaT		melanoma antigen family E, 2							41	33	36					X																	75004797		2203	4299	6502	SO:0001819	synonymous_variant	139599							g.chrX:75004797G>A	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.90C>T	X.37:g.75004797G>A							p.N30N	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	282	-			30					Q5JSI5	Silent	SNP	ENST00000373359.2	37	c.90C>T	CCDS14431.1																																																																																				0.577	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		88	145	0	0	0	0.000781405	0	88	145					A	75004797	G	A	75004797	2	1	125	1	0	0	0	0	0	0	0	1	9227	1136	40	1		1	MAGEE2	23	75004797	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	17384045	75004797	80265763	195	38931											
RPS6KA6	27330	broad.mit.edu	37	chrX	83362013	83362013	+	Missense_Mutation	SNP	G	G	C	1	0	0	1	0	1	1	1	0	1	1	0	gctgaatcctttgaagagctGatgagcatttgcactggctg	12	8	0	5			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:83362013G>C	ENST00000262752.2	-	14	1154	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	RPS6KA6_ENST00000495332.1_5'Flank|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	383	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTGAAGAGCTGATGAGCATTT	0.343																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(1147-1149)Cag>Gag		ribosomal protein S6 kinase, 90kDa, polypeptide 6							72	66	68					X																	83362013		2203	4300	6503	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83362013G>C	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.1147C>G	X.37:g.83362013G>C	ENSP00000262752:p.Gln383Glu					RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			14	1154	-			383			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1147C>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280893	0.23392	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.50548	0.74;0.74	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.115806	0.64402	D	0.000014	T	0.26738	0.0654	N	0.04148	-0.265	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.18263	0.021;0.015	T	0.12243	-1.0555	10	0.09843	T	0.71	.	17.563	0.87912	0.0:0.0:1.0:0.0	.	383;383	B7ZL90;Q9UK32	.;KS6A6_HUMAN	E	383	ENSP00000262752:Q383E;ENSP00000440830:Q383E	ENSP00000262752:Q383E	Q	-	1	0	RPS6KA6	83248669	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.577000	0.82486	2.162000	0.67917	0.600000	0.82982	CAG		0.343	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		24	341	0	0	0	0.00278032	0	24	341					C	83362013	G	C	83362013	3	2	125	1	0	0	0	0	1	0	0	0	13705	1299	45	5	1126	5	RPS6KA6	23	83362013	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	8357216	83362013	71908547	196	38932											
GUCY2F	2986	broad.mit.edu	37	chrX	108619355	108619355	+	Frame_Shift_Del	DEL	T	T	-													ggaaggggcttcatgaagccTtttttcccaatcagccagaa							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108619355delT	ENST00000218006.2	-	18	3483	c.3192delA	c.(3190-3192)aaafs	p.K1064fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1064					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						TCATGAAGCCTTTTTTCCCAA	0.418																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(3190-3192)aafs		guanylate cyclase 2F, retinal							171	156	161					X																	108619355		2203	4300	6503	SO:0001589	frameshift_variant	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108619355delT	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.3192delA	X.37:g.108619355delT	ENSP00000218006:p.Lys1064fs						p.K1064fs	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			18	3483	-			1064					Q9UJF1	Frame_Shift_Del	DEL	ENST00000218006.2	37	c.3192delA	CCDS14545.1																																																																																				0.418	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		8	1093						8	1093	---	---	---	---	-	108619355	T	-	108619355	7	5	125	1	0	1	0	1	0	0	0	0	6928	1606	56	0	142	0	GUCY2F	23	108619355	Frame_Shift_Del	DEL	T	TCGA-YY-A8LH-01A-11D-A36O-08	25257342	108619355	46651205	197	38933											
ACSL4	2182	broad.mit.edu	37	chrX	108906514	108906514	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	accacctttgtccattttcaTccacagaataatcttctgct	3	13	3	1	rs148996116		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108906514T>C	ENST00000469796.2	-	13	2027	c.1631A>G	c.(1630-1632)gAt>gGt	p.D544G	ACSL4_ENST00000340800.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	544					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)	TCCATTTTCATCCACAGAATA	0.378																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(1630-1632)gAt>gGt		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)	T	GLY/ASP,GLY/ASP	1,3834		0,1,1631,571	233	235	234		1508,1631	5.5	1	X	dbSNP_134	234	0,6728		0,0,2428,1872	no	missense,missense	ACSL4	NM_004458.2,NM_022977.2	94,94	0,1,4059,2443	CC,CT,TT,T		0.0,0.0261,0.0095	probably-damaging,probably-damaging	503/671,544/712	108906514	1,10562	2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108906514T>C	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"Acyl-CoA synthetase family"	3571	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", " long-chain fatty-acid-Coenzyme A ligase 4"	300157	"fatty-acid-Coenzyme A ligase, long-chain 4", "mental retardation, X-linked 63", "mental retardation, X-linked 68"	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1631A>G	X.37:g.108906514T>C	ENSP00000419171:p.Asp544Gly					ACSL4_ENST00000469796.2_Missense_Mutation_p.D544G|ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G	p.D544G	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			14	2135	-			544					D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1631A>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608081	0.87258	2.61E-4	0.0	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.13420	2.59;2.59;2.59	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64525	-0.6387	10	0.87932	D	0	-21.9098	14.6742	0.68967	0.0:0.0:0.0:1.0	.	544	O60488	ACSL4_HUMAN	G	503;544;544	ENSP00000262835:D503G;ENSP00000419171:D544G;ENSP00000339787:D544G	ENSP00000339787:D544G	D	-	2	0	ACSL4	108793170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.035000	0.88872	1.846000	0.53633	0.486000	0.48141	GAT		0.378	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		18	1304	0	0	0	0.000673444	0	18	1304					C	108906514	T	C	108906514	3	2	125	1	0	0	0	0	1	0	0	0	179	1435	50	4	520	4	ACSL4	23	108906514	Missense_Mutation	SNP	T	TCGA-YY-A8LH-01A-11D-A36O-08	287159	108906514	46364046	198	38934											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				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						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	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.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		9	739						9	739	---	---	---	---	-	110406208	GAA	-	110406206	7	5	125	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-YY-A8LH-01A-11D-A36O-08	1499692	110406206	44864354	199	38935											
CAPN6	827	broad.mit.edu	37	chrX	110494274	110494274	+	Silent	SNP	C	C	A	0	1	1	0	1	0	0	0	0	0	0	0	cggccaaaaatagggttgttCacattgcggcagacattcag	11	9	2	1			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:110494274C>A	ENST00000324068.1	-	8	1196	c.1029G>T	c.(1027-1029)gtG>gtT	p.V343V	CAPN6_ENST00000541758.1_Silent_p.V88V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	343	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						TAGGGTTGTTCACATTGCGGC	0.463																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1027-1029)gtG>gtT		calpain 6							330	294	306					X																	110494274		2203	4300	6503	SO:0001819	synonymous_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494274C>A	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.1029G>T	X.37:g.110494274C>A						CAPN6_ENST00000541758.1_Silent_p.V88V	p.V343V	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1196	-			343			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	c.1029G>T	CCDS14555.1																																																																																				0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			13	1732	1	0	0.00116845	0.00116845	0.00486239	13	1732					A	110494274	C	A	110494274	2	1	125	1	0	0	0	0	0	0	0	1	2637	813	29	3		3	CAPN6	23	110494274	Silent	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	88068	110494274	44776286	200	38936											
ARHGAP36	158763	broad.mit.edu	37	chrX	130215846	130215846	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagagactgcttaccaCgaactcgtggccagacattt	9	12	0	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:130215846C>A	ENST00000276211.5	+	2	552	c.207C>A	c.(205-207)caC>caA	p.H69Q	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	69					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						CTGCTTACCACGAACTCGTGG	0.577																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(205-207)caC>caA		Rho GTPase activating protein 36							112	98	103					X																	130215846		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215846C>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.207C>A	X.37:g.130215846C>A	ENSP00000276211:p.His69Gln					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q	p.H69Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			2	552	+			69					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.207C>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436770	0.25900	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.09255	3.0;3.0;3.01	4.36	-2.17	0.07059	.	0.475884	0.18258	N	0.146730	T	0.04363	0.0120	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.44050	-0.9353	10	0.22706	T	0.39	.	1.0036	0.01482	0.4372:0.2288:0.1417:0.1922	.	38;57;69	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	69;57;21;38	ENSP00000276211:H69Q;ENSP00000359960:H57Q;ENSP00000408515:H38Q	ENSP00000276211:H69Q	H	+	3	2	ARHGAP36	130043527	0.778000	0.28640	0.937000	0.37676	0.976000	0.68499	-0.888000	0.04148	-0.670000	0.05282	-0.268000	0.10319	CAC		0.577	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		40	733	1	0	3.43241e-23	0.00222228	1.75269e-22	40	733					A	130215846	C	A	130215846	3	1	125	1	0	0	0	0	1	0	0	0	883	535	19	3	209	3	ARHGAP36	23	130215846	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	19721572	130215846	25054714	201	38937											
GPC4	2239	broad.mit.edu	37	chrX	132445300	132445300	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	gctcacctatgaaattgttcCattcaaaatcgagatcccct	5	12	2	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:132445300C>A	ENST00000370828.3	-	4	1387	c.863G>T	c.(862-864)tGg>tTg	p.W288L	GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	288					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GAAATTGTTCCATTCAAAATC	0.443																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(862-864)tGg>tTg		glypican 4							154	140	145					X																	132445300		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132445300C>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.863G>T	X.37:g.132445300C>A	ENSP00000359864:p.Trp288Leu					GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	p.W288L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			4	1387	-	Acute lymphoblastic leukemia(192;0.000127)		288					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.863G>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763050	0.89932	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.80566	-1.39;-1.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.90082	3.085	0.80722	D	1	D	0.63880	0.993	D	0.69142	0.962	D	0.93066	0.6478	10	0.87932	D	0	-19.8545	17.5641	0.87914	0.0:1.0:0.0:0.0	.	288	O75487	GPC4_HUMAN	L	288;282;218	ENSP00000359864:W288L;ENSP00000444959:W218L	ENSP00000359864:W288L	W	-	2	0	GPC4	132272966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.754000	0.85163	2.363000	0.80096	0.600000	0.82982	TGG		0.443	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		51	732	1	0	3.4597e-24	0.000781405	1.7752e-23	51	732					A	132445300	C	A	132445300	3	1	125	1	0	0	0	0	1	0	0	0	6629	595	21	3	831	3	GPC4	23	132445300	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	2229454	132445300	22825260	202	38938											
FGF13	2258	broad.mit.edu	37	chrX	137793125	137793125	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	tctcgcgctcgcgggcttgcCtcttctgacggatgagcgag	14	13	3	2			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:137793125C>G	ENST00000315930.6	-	1	702	c.41G>C	c.(40-42)aGg>aCg	p.R14T	FGF13_ENST00000370603.3_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000305414.4_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000541469.1_Intron|FGF13-AS1_ENST00000438238.1_RNA	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	14	Mediates targeting to the nucleus. {ECO:0000250}.				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)					GCGGGCTTGCCTCTTCTGACG	0.597																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(40-42)aGg>aCg		fibroblast growth factor 13							84	80	82					X																	137793125		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137793125C>G	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.41G>C	X.37:g.137793125C>G	ENSP00000322390:p.Arg14Thr					FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000541469.1_Intron	p.R14T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			1	702	-	Acute lymphoblastic leukemia(192;0.000127)		14					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.41G>C	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473036	0.84640	.	.	ENSG00000129682	ENST00000315930	D	0.84944	-1.92	4.29	4.29	0.51040	.	.	.	.	.	D	0.86464	0.5939	L	0.60455	1.87	0.80722	D	1	P	0.46277	0.875	P	0.48524	0.58	D	0.88447	0.3046	9	0.72032	D	0.01	.	15.3424	0.74309	0.0:1.0:0.0:0.0	.	14	Q92913	FGF13_HUMAN	T	14	ENSP00000322390:R14T	ENSP00000322390:R14T	R	-	2	0	FGF13	137620791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.318000	0.79029	1.889000	0.54706	0.529000	0.55759	AGG		0.597	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		13	446	0	0	0	0.000422831	0	13	446					G	137793125	C	G	137793125	3	3	125	1	0	0	0	0	1	0	0	0	5867	681	24	5	716	5	FGF13	23	137793125	Missense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	5347825	137793125	17477435	203	38939											
MAGEC1	9947	broad.mit.edu	37	chrX	140994915	140994915	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	8	16	4	0	rs111773662	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:140994915G>A	ENST00000285879.4	+	4	2011	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	575										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.597										HNSCC(15;0.026)			G|||	2	0.000529801	0.0008	0.0	3775	,	,		12697	0.0		0.001	False		,,,				2504	0.0					ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1723-1725)ctG>ctA		melanoma antigen family C, 1		G		3,3832		0,3,1629,571	239	257	251		1725	-0.3	0	X	dbSNP_132	251	0,6728		0,0,2428,1872	no	coding-synonymous	MAGEC1	NM_005462.4		0,3,4057,2443	AA,AG,GG,G		0.0,0.0782,0.0284		575/1143	140994915	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994915G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1725G>A	X.37:g.140994915G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L575L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2011	+	Acute lymphoblastic leukemia(192;6.56e-05)		575					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1725G>A	CCDS35417.1																																																																																				0.597	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	1527	0	0	0	0.000157383	0	12	1527					A	140994915	G	A	140994915	2	1	125	1	0	0	0	0	0	0	0	1	9221	1364	48	2		2	MAGEC1	23	140994915	Silent	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	3201790	140994915	14275645	204	38940											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-													tggttcctggcctattggttGtggtggtggtggtgtggtcc							TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		10	989						10	989	---	---	---	---	-	149984526	GTG	-	149984524	7	5	125	1	0	1	0	1	0	0	0	0	3060	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-YY-A8LH-01A-11D-A36O-08	8989609	149984524	5286036	205	38941											
MECP2	4204	broad.mit.edu	37	chrX	153296299	153296299	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcccgctcttctcaccgaggGtggacaccagcaggggcttc	12	15	2	0			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:153296299G>A	ENST00000303391.6	-	4	1229	c.980C>T	c.(979-981)aCc>aTc	p.T327I	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	327					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)	p.T327N(1)		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)					CTCACCGAGGGTGGACACCAG	0.617																																						ENST00000303391.6																			1	Substitution - Missense(1)	p.T327N(1)	lung(1)	breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(979-981)aCc>aTc		methyl CpG binding protein 2 (Rett syndrome)							75	67	70					X																	153296299		2203	4300	6503	SO:0001583	missense	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296299G>A	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.980C>T	X.37:g.153296299G>A	ENSP00000301948:p.Thr327Ile					MECP2_ENST00000453960.2_Missense_Mutation_p.T339I	p.T327I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	1229	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		327					O15233|Q6QHH9|Q7Z384	Missense_Mutation	SNP	ENST00000303391.6	37	c.980C>T	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599919	0.46318	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91295	-2.82;-2.81	5.06	5.06	0.68205	.	0.554194	0.19741	N	0.107108	T	0.81531	0.4842	N	0.14661	0.345	0.80722	D	1	B;B	0.26400	0.144;0.148	B;B	0.27170	0.077;0.035	T	0.76683	-0.2869	10	0.19147	T	0.46	-5.948	11.8253	0.52263	0.0:0.0:0.8245:0.1755	.	339;327	P51608-2;P51608	.;MECP2_HUMAN	I	327;327;339	ENSP00000301948:T327I;ENSP00000395535:T339I	ENSP00000301948:T327I	T	-	2	0	MECP2	152949493	0.912000	0.30974	0.128000	0.21923	0.887000	0.51463	5.301000	0.65727	2.344000	0.79699	0.600000	0.82982	ACC		0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		12	445	0	0	0	0.000308642	0	12	445					A	153296299	G	A	153296299	3	1	125	1	0	0	0	0	1	0	0	0	9464	1261	44	2	484	2	MECP2	23	153296299	Missense_Mutation	SNP	G	TCGA-YY-A8LH-01A-11D-A36O-08	3311775	153296299	1974261	206	38942											
VBP1	7411	broad.mit.edu	37	chrX	154464621	154464621	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	aggaagaccttgactttcttCgagatcaatttactaccaca	6	10	2	3			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154464621C>T	ENST00000286428.5	+	5	613	c.496C>T	c.(496-498)Cga>Tga	p.R166*	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	166					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)		p.R166G(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	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)					TGACTTTCTTCGAGATCAATT	0.353																																						ENST00000286428.5																			1	Substitution - Missense(1)	p.R166G(1)	NS(1)	NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(496-498)Cga>Tga		von Hippel-Lindau binding protein 1							104	97	100					X																	154464621		2203	4300	6503	SO:0001587	stop_gained	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154464621C>T	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"prefoldin 3"	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.496C>T	X.37:g.154464621C>T	ENSP00000286428:p.Arg166*					VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*	p.R166*	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN			5	613	+	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)		166					B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Nonsense_Mutation	SNP	ENST00000286428.5	37	c.496C>T	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	C	37	6.295580	0.97449	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	.	.	.	4.86	4.86	0.63082	.	0.109676	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9083	10.1751	0.42933	0.1991:0.8008:0.0:0.0	.	.	.	.	X	161;166	.	ENSP00000286428:R166X	R	+	1	2	VBP1	154117815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.440000	0.52886	2.324000	0.78689	0.594000	0.82650	CGA		0.353	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1			9	737	0	0	0	0.000442599	0	9	737					T	154464621	C	T	154464621	4	4	125	1	0	0	0	0	0	1	0	0	17190	876	31	1	514	1	VBP1	23	154464621	Nonsense_Mutation	SNP	C	TCGA-YY-A8LH-01A-11D-A36O-08	1168322	154464621	805939	207	38943											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	12	12	3	0	rs199755248		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	463					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18264	0.001		0.0	False		,,,				2504	0.0					ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CD004305	CLCNKB	D		c.(1387-1389)ccA>ccC		chloride channel, voltage-sensitive Kb							66	66	66					1																	16378296		2203	4300	6503	SO:0001819	synonymous_variant	1188							g.chr1:16378296A>C	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1389A>C	1.37:g.16378296A>C						CLCNKB_ENST00000375667.3_Silent_p.P294P	p.P463P	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1500	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	ENST00000375679.4	37	c.1389A>C	CCDS168.1																																																																																				0.622	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		6	323	0	0	0	1	0	6	323					C	16378296	A	C	16378296	2	2	126	1	0	0	0	0	0	0	0	1	3479	175	7	4		4	CLCNKB	1	16378296	Silent	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08		16378296	232872325	1	38944											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	15	7	1	3			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(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)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38	29	33					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	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.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		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)	14	2118	+		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)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	327	0	0	0	1	0	5	327					G	21806573	A	G	21806573	3	3	126	1	0	0	0	0	1	0	0	0	10239	304	11	4	1276	4	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	5428277	21806573	227444048	2	38945											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-													aaagcatagatagccccataAcacacacacactcctaagcc					rs144663569		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		7	295						7	295	---	---	---	---	-	46184898	AC	-	46184897	7	5	126	1	0	1	0	1	0	0	0	0	7830	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-Z5-AAPL-01A-12D-A40W-08	24378324	46184897	203065724	3	38946											
C1orf173	127254	broad.mit.edu	37	chr1	75065538	75065538	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcggtattccattcaTttgaacatcagcctgtcctt	7	11	2	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:75065538T>C	ENST00000326665.5	-	11	1785	c.1567A>G	c.(1567-1569)Atg>Gtg	p.M523V	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.M326V	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		523	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						ATTCCATTCATTTGAACATCA	0.388																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1567-1569)Atg>Gtg		chromosome 1 open reading frame 173							223	226	225					1																	75065538		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75065538T>C																												ENST00000326665.5:c.1567A>G	1.37:g.75065538T>C	ENSP00000322609:p.Met523Val					RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.M326V	p.M523V	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			11	1785	-			523			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1567A>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	0.834	-0.744144	0.03088	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.16897	2.71;2.31	6.05	2.54	0.30619	.	.	.	.	.	T	0.04634	0.0126	L	0.43152	1.355	0.25581	N	0.986794	B;B	0.28350	0.018;0.208	B;B	0.22152	0.011;0.038	T	0.37407	-0.9707	9	0.27082	T	0.32	-8.5564	8.5652	0.33536	0.0:0.2774:0.0:0.7226	.	326;523	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	V	523;326	ENSP00000322609:M523V;ENSP00000398581:M326V	ENSP00000322609:M523V	M	-	1	0	C1orf173	74838126	1.000000	0.71417	0.973000	0.42090	0.002000	0.02628	1.395000	0.34520	0.531000	0.28639	-0.924000	0.02725	ATG		0.388	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			18	592	0	0	0	1	0	18	592					C	75065538	T	C	75065538	3	2	126	1	0	0	0	0	1	0	0	0	2021	1493	52	4	3041	4	C1orf173	1	75065538	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08	28880641	75065538	174185083	4	38947											
FNDC7	163479	broad.mit.edu	37	chr1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-													ttgaagcttactttctgtccAaaaaaaatatattcaggtaa							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccafs	p.P708fs	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	708	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.I478fs*4(1)		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)		CTTTCTGTCCAAAAAAAATAT	0.363																																						ENST00000370017.3																			1	Deletion - Frameshift(1)	p.I478fs*4(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20						c.(2122-2124)ccfs		fibronectin type III domain containing 7							65	66	66					1																	109276138		2203	4300	6503	SO:0001589	frameshift_variant	163479					extracellular region		g.chr1:109276138delA		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.2124delA	1.37:g.109276138delA	ENSP00000359034:p.Pro708fs					FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	p.P708fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	2401	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	709			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Frame_Shift_Del	DEL	ENST00000370017.3	37	c.2124delA	CCDS44185.1																																																																																				0.363	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		7	389						7	389	---	---	---	---	-	109276138	A	-	109276138	7	5	126	1	0	1	0	1	0	0	0	0	5998	117	5	0	2162	0	FNDC7	1	109276138	Frame_Shift_Del	DEL	A	TCGA-Z5-AAPL-01A-12D-A40W-08	34210600	109276138	139974483	5	38948											
FAM20B	9917	broad.mit.edu	37	chr1	179033482	179033482	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatgctgtgaagaaaacGtccccttatgactctggccc	10	11	1	4			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:179033482G>A	ENST00000263733.4	+	6	1125	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	263						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						TGAAGAAAACGTCCCCTTATG	0.502																																						ENST00000263733.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(787-789)acG>acA		family with sequence similarity 20, member B							232	188	203					1																	179033482		2203	4300	6503	SO:0001819	synonymous_variant	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179033482G>A	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.789G>A	1.37:g.179033482G>A							p.T263T	NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN			6	1125	+			263					Q5W0C3|Q5W0C4	Silent	SNP	ENST00000263733.4	37	c.789G>A	CCDS1328.1																																																																																				0.502	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		11	479	0	0	0	1	0	11	479					A	179033482	G	A	179033482	2	1	126	1	0	0	0	0	0	0	0	1	5559	1132	40	1		1	FAM20B	1	179033482	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	69757344	179033482	70217139	6	38949											
PRG4	10216	broad.mit.edu	37	chr1	186276064	186276064	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaccaaggagcctGcacccaccactcccaaggag	7	20	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:186276064G>A	ENST00000445192.2	+	7	1258	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T	PRG4_ENST00000367485.4_Missense_Mutation_p.A312T|PRG4_ENST00000367483.4_Missense_Mutation_p.A364T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.A362T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	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						CAAGGAGCCTGCACCCACCAC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1213-1215)Gca>Aca		proteoglycan 4							91	86	88					1																	186276064		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276064G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1213G>A	1.37:g.186276064G>A	ENSP00000399679:p.Ala405Thr					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A364T|PRG4_ENST00000367485.4_Missense_Mutation_p.A312T|PRG4_ENST00000367486.3_Missense_Mutation_p.A362T	p.A405T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1258	+			405			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1213G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	7.396	0.631789	0.14322	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.06528	3.29;3.39;3.3;3.4	3.29	-0.723	0.11181	.	.	.	.	.	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.14012	0.009;0.009;0.005;0.009	B;B;B;B	0.11329	0.006;0.006;0.003;0.006	T	0.47249	-0.9132	8	.	.	.	.	0.4948	0.00570	0.1791:0.2004:0.2175:0.4031	.	271;312;405;364	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	362;271;364;312;405	ENSP00000356456:A362T;ENSP00000356453:A364T;ENSP00000356455:A312T;ENSP00000399679:A405T	.	A	+	1	0	PRG4	184542687	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.332000	0.07904	0.056000	0.16144	-0.420000	0.06012	GCA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	390	0	0	0	1	0	6	390					A	186276064	G	A	186276064	3	1	126	1	0	0	0	0	1	0	0	0	12528	1319	46	2	1235	2	PRG4	1	186276064	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	7242582	186276064	62974557	7	38950											
MTR	4548	broad.mit.edu	37	chr1	237024423	237024423	+	Splice_Site	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttgtcttttttAgggcattgaaaaacatatta	5	3	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						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)	p.?(1)		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)	tgtcttttttAGGGCATTGAA	0.323																																						ENST00000366577.5																			1	Unknown(1)	p.?(1)	lung(1)	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						c.e20-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						28	28	28					1																	237024423		2190	4294	6484	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024423A>T	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.2044-1A>T	1.37:g.237024423A>T						MTR_ENST00000535889.1_Intron		NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2437	+	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)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37		CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919996	0.73098	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235091046	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	9.300000	0.96151	2.279000	0.76181	0.533000	0.62120	.		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	7	112	0	0	0	1	0	7	112					T	237024423	A	T	237024423	5	4	126	1	0	0	0	0	0	0	1	0	9999	434	15	5	2120	5	MTR	1	237024423	Splice_Site	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	50748359	237024423	12226198	8	38951											
RYR2	6262	broad.mit.edu	37	chr1	237969494	237969494	+	Frame_Shift_Del	DEL	T	T	-													ttcttggacactataacaacTttttttttgccgctcacctt							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr1:237969494delT	ENST00000366574.2	+	99	14526	c.14209delT	c.(14209-14211)tttfs	p.F4739fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4739					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)			CTATAACAACTTTTTTTTTGC	0.403																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14209-14211)ttfs		ryanodine receptor 2 (cardiac)							241	211	220					1																	237969494		1888	4108	5996	SO:0001589	frameshift_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969494delT	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.14209delT	1.37:g.237969494delT	ENSP00000355533:p.Phe4739fs					RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs	p.F4739fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4739					Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.14209delT	CCDS55691.1																																																																																				0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	197						7	197	---	---	---	---	-	237969494	T	-	237969494	7	5	126	1	0	1	0	1	0	0	0	0	13819	1609	56	0	14603	0	RYR2	1	237969494	Frame_Shift_Del	DEL	T	TCGA-Z5-AAPL-01A-12D-A40W-08	945071	237969494	11281127	9	38952											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-													cattagacaatggagcagagGatgatgatgatgatgaattt							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	660						7	660	---	---	---	---	-	64778674	GAT	-	64778672	7	5	126	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-Z5-AAPL-01A-12D-A40W-08		64778672	178420701	10	38953											
GPAT2	150763	broad.mit.edu	37	chr2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgatggcgagctttgggtccGcacactctggaaagaagaga	14	8	1	3			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					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						CTTTGGGTCCGCACACTCTGG	0.557																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2221-2223)gCg>gTg		glycerol-3-phosphate acyltransferase 2, mitochondrial							127	130	129					2																	96688465		1940	4129	6069	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688465G>A	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.2222C>T	2.37:g.96688465G>A	ENSP00000389395:p.Ala741Val					GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V	p.A741V			Q6NUI2	GPAT2_HUMAN			22	2681	-			741					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2222C>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.68|11.68	1.709764|1.709764	0.30322|0.30322	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	T;T;T|T	0.79352|0.78924	-1.26;-1.26;-0.28|-1.22	4.91|4.91	-4.54|-4.54	0.03452|0.03452	.|.	.|.	.|.	.|.	.|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.13145|0.02656	0.007;0.001;0.001;0.006|0.0	B;B;B;B|B	0.08055|0.01281	0.003;0.001;0.001;0.003|0.0	T|T	0.60182|0.60182	-0.7313|-0.7313	9|9	0.06757|0.66056	T|D	0.87|0.02	-15.4873|-15.4873	13.7313|13.7313	0.62789|0.62789	0.2194:0.0:0.7806:0.0|0.2194:0.0:0.7806:0.0	.|.	670;747;741;670|657	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9|Q6NUI2-3	.;.;GPAT2_HUMAN;.|.	V|W	741;741;670|657	ENSP00000352547:A741V;ENSP00000389395:A741V;ENSP00000393770:A670V|ENSP00000366341:R657W	ENSP00000352547:A741V|ENSP00000366341:R657W	A|R	-|-	2|1	0|2	GPAT2|GPAT2	96052192|96052192	0.005000|0.005000	0.15991|0.15991	0.276000|0.276000	0.24689|0.24689	0.761000|0.761000	0.43186|0.43186	-0.030000|-0.030000	0.12308|0.12308	-0.818000|-0.818000	0.04329|0.04329	-1.269000|-1.269000	0.01422|0.01422	GCG|CGG		0.557	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		6	681	0	0	0	1	0	6	681					A	96688465	G	A	96688465	3	1	126	1	0	0	0	0	1	0	0	0	6618	1087	38	1	173	1	GPAT2	2	96688465	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	31909793	96688465	146510908	11	38954											
VWA3B	200403	broad.mit.edu	37	chr2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	catagtgctggattttggcgGcattctggagggggagcttg	17	6	1	0	rs200875707		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	150										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATTTTGGCGGCATTCTGGAG	0.522																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(448-450)gGc>gAc		von Willebrand factor A domain containing 3B							192	187	189					2																	98736133		1991	4149	6140	SO:0001583	missense	200403							g.chr2:98736133G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.449G>A	2.37:g.98736133G>A	ENSP00000417955:p.Gly150Asp					VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D|VWA3B_ENST00000451075.2_Intron	p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			4	653	+			150					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.449G>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	1.464	-0.561569	0.03939	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.35973	1.28;1.28	6.02	-3.25	0.05079	.	1.332560	0.04551	N	0.389819	T	0.19967	0.0480	N	0.17474	0.49	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.17501	-1.0367	10	0.32370	T	0.25	.	4.4567	0.11647	0.553:0.1139:0.2439:0.0893	.	150;150	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	150	ENSP00000401959:G150D;ENSP00000417955:G150D	ENSP00000411168:G150D	G	+	2	0	VWA3B	98102565	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.140000	0.16056	-0.462000	0.06984	-0.150000	0.13652	GGC		0.522	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		7	862	0	0	0	1	0	7	862					A	98736133	G	A	98736133	3	1	126	1	0	0	0	0	1	0	0	0	17295	1203	42	2	459	2	VWA3B	2	98736133	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	2047668	98736133	144463240	12	38955											
FAP	2191	broad.mit.edu	37	chr2	163075620	163075620	+	Frame_Shift_Del	DEL	C	C	-													taaatattttattttctcttCcattaaatgttatttgaaaa							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:163075620delC	ENST00000188790.4	-	8	767	c.560delG	c.(559-561)ggafs	p.G187fs	FAP_ENST00000443424.1_Frame_Shift_Del_p.G162fs	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						ATTTTCTCTTCCATTAAATGT	0.318																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(559-561)gafs		fibroblast activation protein, alpha							70	76	74					2																	163075620		2203	4290	6493	SO:0001589	frameshift_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163075620delC	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.560delG	2.37:g.163075620delC	ENSP00000188790:p.Gly187fs					FAP_ENST00000443424.1_Frame_Shift_Del_p.G162fs	p.G187fs	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			8	767	-			187						Frame_Shift_Del	DEL	ENST00000188790.4	37	c.560delG	CCDS33311.1																																																																																				0.318	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			7	323						7	323	---	---	---	---	-	163075620	C	-	163075620	7	5	126	1	0	1	0	1	0	0	0	0	5698	855	30	0	1798	0	FAP	2	163075620	Frame_Shift_Del	DEL	C	TCGA-Z5-AAPL-01A-12D-A40W-08	64339487	163075620	80123753	13	38956											
ALS2CR11	151254	broad.mit.edu	37	chr2	202352352	202352352	+	Frame_Shift_Del	DEL	T	T	-													ttttcaatatcctcttttaaTtttttttggccgcattttat							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:202352352delT	ENST00000286195.3	-	15	1899	c.1855delA	c.(1855-1857)attfs	p.I619fs	ALS2CR11_ENST00000482942.1_5'Flank|ALS2CR11_ENST00000439140.1_Frame_Shift_Del_p.I1816fs|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	619										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTCTTTTAATTTTTTTTGGC	0.323																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(5446-5448)ttfs		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							97	96	96					2																	202352352		2203	4300	6503	SO:0001589	frameshift_variant	151254							g.chr2:202352352delT	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.1855delA	2.37:g.202352352delT	ENSP00000286195:p.Ile619fs					ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR	p.I1816fs	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			16	5490	-			619					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Frame_Shift_Del	DEL	ENST00000286195.3	37	c.5446delA	CCDS2349.1																																																																																				0.323	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		10	389						10	389	---	---	---	---	-	202352352	T	-	202352352	7	5	126	1	0	1	0	1	0	0	0	0	552	1493	52	0	20	0	ALS2CR11	2	202352352	Frame_Shift_Del	DEL	T	TCGA-Z5-AAPL-01A-12D-A40W-08	39276732	202352352	40847021	14	38957											
TTLL4	9654	broad.mit.edu	37	chr2	219614735	219614735	+	Silent	SNP	C	C	A	0	1	0	0	1	0	0	0	0	0	0	0	ttatcctttttctgaagcctCcactccagctctccactgga	5	15	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:219614735C>A	ENST00000392102.1	+	15	3079	c.2739C>A	c.(2737-2739)ctC>ctA	p.L913L	TTLL4_ENST00000457313.1_Silent_p.L748L|TTLL4_ENST00000258398.4_Silent_p.L913L|TTLL4_ENST00000442769.1_Silent_p.L849L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	913	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCTGAAGCCTCCACTCCAGCT	0.468																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2737-2739)ctC>ctA		tubulin tyrosine ligase-like family, member 4							218	204	209					2																	219614735		2203	4300	6503	SO:0001819	synonymous_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219614735C>A		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2739C>A	2.37:g.219614735C>A						TTLL4_ENST00000442769.1_Silent_p.L849L|TTLL4_ENST00000457313.1_Silent_p.L748L|TTLL4_ENST00000258398.4_Silent_p.L913L	p.L913L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	15	3079	+		Renal(207;0.0915)	913			TTL.		A8K6V5|Q8WW29	Silent	SNP	ENST00000392102.1	37	c.2739C>A	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	7.239	0.600803	0.13939	.	.	ENSG00000135912	ENST00000436668	.	.	.	4.87	1.8	0.24995	.	.	.	.	.	T	0.54431	0.1858	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46359	-0.9197	4	.	.	.	.	6.8562	0.24042	0.0:0.6245:0.1469:0.2285	.	.	.	.	T	58	.	.	P	+	1	0	TTLL4	219322979	0.989000	0.36119	0.998000	0.56505	0.827000	0.46813	0.307000	0.19296	0.624000	0.30286	0.650000	0.86243	CCA		0.468	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		24	968	1	0	8.04996e-18	1	8.8483e-18	24	968					A	219614735	C	A	219614735	2	1	126	1	0	0	0	0	0	0	0	1	16783	842	30	3		3	TTLL4	2	219614735	Silent	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	17262383	219614735	23584638	15	38958											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-													ctctggagggtgcagcaaggGctgctgctgctgctgctgct							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				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)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		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.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		9	290						9	290	---	---	---	---	-	227660810	GCT	-	227660808	7	5	126	1	0	1	0	1	0	0	0	0	7870	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-Z5-AAPL-01A-12D-A40W-08	8046073	227660808	15538565	16	38959											
ULK4	54986	broad.mit.edu	37	chr3	41860984	41860985	+	Frame_Shift_Ins	INS	-	-	T													cccagcactctctagggttcINSttttttttttcttcctaaaa					rs76318575		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:41860984_41860985insT	ENST00000301831.4	-	19	2240_2241	c.1778_1779insA	c.(1777-1779)aagfs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593					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)	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTAGGGTTCTTTTTTTTTTC	0.45																																						ENST00000301831.4																			1	Deletion - Frameshift(1)	p.K593fs*17(1)	ovary(1)	breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1777-1779)aaafs		unc-51 like kinase 4																																				SO:0001589	frameshift_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41860984_41860985insT	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.1779dupA	3.37:g.41860994_41860994dupT	ENSP00000301831:p.Lys593fs						p.K593fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	19	2240_2241	-			593					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Ins	INS	ENST00000301831.4	37	c.1778_1779insA	CCDS43071.1																																																																																				0.45	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		9	374						9	374	---	---	---	---	T	41860985	-	T	41860984	7	5	126	1	0	1	1	0	0	0	0	0	17032	912	32	0	2124	0	ULK4	3	41860984	Frame_Shift_Ins	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08		41860984	156161446	17	38960											
QRICH1	54870	broad.mit.edu	37	chr3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-													ctgaacaagtaacttggagtTgctgctgctgctgctgtggt							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	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																																						ENST00000395443.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1315-1320)caa>ca		glutamine-rich 1																																				SO:0001651	inframe_deletion	54870							g.chr3:49094314_49094316delTGC		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					QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del	p.QQ439del	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1789_1791	-			439			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	ENST00000395443.2	37	c.1317_1319delGCA	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		10	305						10	305	---	---	---	---	-	49094316	TGC	-	49094314	7	5	126	1	0	1	0	1	0	0	0	0	12929	1812	63	0	1043	0	QRICH1	3	49094314	In_Frame_Del	DEL	TGC	TCGA-Z5-AAPL-01A-12D-A40W-08	7233330	49094314	148928116	18	38961											
PBRM1	55193	broad.mit.edu	37	chr3	52637535	52637535	+	Splice_Site	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	aataaaatgaaaagaaaccaAcctcttttttcttcttctcg	3	9	4	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:52637535A>G	ENST00000296302.7	-	17	2781		c.e17+1		PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000394830.3_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)			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)		AAAGAAACCAACCTCTTTTTT	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"Mis, N, F, S, D, O"	polybromo 1			E			"clear cell renal carcinoma, breast"		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.e16+1		polybromo 1							61	59	60					3																	52637535		2202	4299	6501	SO:0001630	splice_region_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637535A>G	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.2779+1T>C	3.37:g.52637535A>G						PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site				Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2686	-								A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37			.	.	.	.	.	.	.	.	.	.	A	22.5	4.302447	0.81136	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3425	0.66636	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52612575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.877000	0.92386	2.174000	0.68829	0.445000	0.29226	.		0.318	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron	5	92	0	0	0	1	0	5	92					G	52637535	A	G	52637535	5	3	126	1	0	0	0	0	0	0	1	0	11533	57	2	4	2175	4	PBRM1	3	52637535	Splice_Site	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	3543221	52637535	145384895	19	38962											
PDE12	201626	broad.mit.edu	37	chr3	57542768	57542770	+	In_Frame_Del	DEL	CTT	CTT	-													gtcattgtctccctcctcacCttcttcttcttggactgaga							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:57542768_57542770delCTT	ENST00000311180.8	+	1	765_767	c.662_664delCTT	c.(661-666)ccttct>cct	p.S224del	PDE12_ENST00000487257.1_In_Frame_Del_p.S224del	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	224					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CCCTCCTCACCTTCTTCTTCTTG	0.616																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(661-666)cct>c		phosphodiesterase 12																																				SO:0001651	inframe_deletion	201626						hydrolase activity	g.chr3:57542768_57542770delCTT	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.662_664delCTT	3.37:g.57542777_57542779delCTT	ENSP00000309142:p.Ser224del					PDE12_ENST00000487257.1_In_Frame_Del_p.PS221del	p.PS221del	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	765_767	+			221					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	In_Frame_Del	DEL	ENST00000311180.8	37	c.662_664delCTT	CCDS33772.1																																																																																				0.616	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		7	733						7	733	---	---	---	---	-	57542770	CTT	-	57542768	7	5	126	1	0	1	0	1	0	0	0	0	11674	681	24	0	664	0	PDE12	3	57542768	In_Frame_Del	DEL	CTT	TCGA-Z5-AAPL-01A-12D-A40W-08	4905233	57542768	140479662	20	38963											
ARL13B	200894	broad.mit.edu	37	chr3	93761986	93761986	+	Frame_Shift_Del	DEL	A	A	-													ccaggttaatcacaatggccAaaaaaataatgaatttggac							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:93761986delA	ENST00000394222.3	+	7	1201	c.926delA	c.(925-927)caafs	p.Q309fs	ARL13B_ENST00000471138.1_Frame_Shift_Del_p.Q309fs|ARL13B_ENST00000303097.7_Frame_Shift_Del_p.Q202fs|ARL13B_ENST00000539730.1_Frame_Shift_Del_p.Q30fs|ARL13B_ENST00000535334.1_Frame_Shift_Del_p.Q206fs	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	309					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						CACAATGGCCAAAAAAATAAT	0.383																																						ENST00000535334.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(616-618)cafs		ADP-ribosylation factor-like 13B							79	78	79					3																	93761986		2203	4299	6502	SO:0001589	frameshift_variant	200894						GTP binding	g.chr3:93761986delA	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.926delA	3.37:g.93761986delA	ENSP00000377769:p.Gln309fs					ARL13B_ENST00000303097.7_Frame_Shift_Del_p.Q202fs|ARL13B_ENST00000539730.1_Frame_Shift_Del_p.Q30fs|ARL13B_ENST00000471138.1_Frame_Shift_Del_p.Q309fs|ARL13B_ENST00000394222.3_Frame_Shift_Del_p.Q309fs	p.Q206fs	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN			6	1140	+			309					D3DN29|G3V1S8|Q504W8|Q8TCL5	Frame_Shift_Del	DEL	ENST00000394222.3	37	c.617delA	CCDS2925.1																																																																																				0.383	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		7	380						7	380	---	---	---	---	-	93761986	A	-	93761986	7	5	126	1	0	1	0	1	0	0	0	0	929	130	5	0	952	0	ARL13B	3	93761986	Frame_Shift_Del	DEL	A	TCGA-Z5-AAPL-01A-12D-A40W-08	36219218	93761986	104260444	21	38964											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	20	2	0	4			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642																																					Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			1	Substitution - coding silent(1)	p.E170E(1)	prostate(1)	NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(508-510)gaG>gaA		thyrotropin-releasing hormone							33	35	34					3																	129695840		2202	4300	6502	SO:0001819	synonymous_variant	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129695840G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"Endogenous ligands"	12298	protein-coding gene	gene with protein product	"prothyroliberin"	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.510G>A	3.37:g.129695840G>A						TRH_ENST00000507066.1_Silent_p.E166E	p.E170E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1037	+			170					B2R8R1|Q2TB83	Silent	SNP	ENST00000302649.3	37	c.510G>A	CCDS3066.1																																																																																				0.642	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		5	250	0	0	0	1	0	5	250					A	129695840	G	A	129695840	2	1	126	1	0	0	0	0	0	0	0	1	16531	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	35933854	129695840	68326590	22	38965											
C4orf50	389197	broad.mit.edu	37	chr4	5969140	5969140	+	Splice_Site	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcaaaaatcacactgaCctcttaaagctgccgtcatc	5	13	4	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:5969140C>A	ENST00000324058.5	-	5	547		c.e5+1		C4orf50_ENST00000531445.1_Splice_Site			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATCACACTGACCTCTTAAAGC	0.537																																						ENST00000531445.1																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						c.e5+1		chromosome 4 open reading frame 50							144	125	132					4																	5969140		2203	4300	6503	SO:0001630	splice_region_variant	389197							g.chr4:5969140C>A	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.457+1G>T	4.37:g.5969140C>A						C4orf50_ENST00000324058.5_Splice_Site				Q6ZRC1	CD050_HUMAN			5	1926	-									Splice_Site	SNP	ENST00000324058.5	37			.	.	.	.	.	.	.	.	.	.	C	11.01	1.514360	0.27123	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	.	.	.	2.99	2.99	0.34606	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7214	0.40306	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C4orf50	6020041	0.997000	0.39634	1.000000	0.80357	0.411000	0.31082	1.288000	0.33296	1.992000	0.58205	0.655000	0.94253	.		0.537	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405	Intron	6	379	1	0	0.00198382	1	0.00204533	6	379					A	5969140	C	A	5969140	5	1	126	1	0	0	0	0	0	0	1	0	2283	521	18	3	384	3	C4orf50	4	5969140	Splice_Site	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		5969140	185185136	23	38966											
RAPGEF2	9693	broad.mit.edu	37	chr4	160266337	160266337	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaagcgggtacgtcgtAgttcctttctcaatgccaaa	8	9	1	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:160266337A>T	ENST00000264431.4	+	18	3294	c.2875A>T	c.(2875-2877)Agt>Tgt	p.S959C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	959					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)		GGTACGTCGTAGTTCCTTTCT	0.448																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(2875-2877)Agt>Tgt		Rap guanine nucleotide exchange factor (GEF) 2							178	178	178					4																	160266337		1939	4147	6086	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160266337A>T	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.2875A>T	4.37:g.160266337A>T	ENSP00000264431:p.Ser959Cys						p.S959C	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	18	3294	+	all_hematologic(180;0.24)		959					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.2875A>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.747227|4.747227	0.89663|0.89663	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000502485	T|.	0.43688|.	0.94|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77896|.	0.4199|.	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68765|.	0.96|.	T|.	0.78640|.	-0.2125|.	10|.	0.87932|.	D|.	0|.	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	959|.	Q9Y4G8|.	RPGF2_HUMAN|.	C|L	959|64	ENSP00000264431:S959C|.	ENSP00000264431:S959C|.	S|X	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160485787|160485787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.339000|9.339000	0.96797|0.96797	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	AGT|TAG		0.448	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		25	525	0	0	0	1	0	25	525					T	160266337	A	T	160266337	3	4	126	1	0	0	0	0	1	0	0	0	13094	420	15	5	2945	5	RAPGEF2	4	160266337	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	154297197	160266337	30887939	24	38967											
FAT1	2195	broad.mit.edu	37	chr4	187521297	187521297	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgacggatgtggccaCcaaaaaacacatagttatcc	8	12	0	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr4:187521297C>A	ENST00000441802.2	-	22	12067	c.11858G>T	c.(11857-11859)gGt>gTt	p.G3953V	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3953	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GATGTGGCCACCAAAAAACAC	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(11857-11859)gGt>gTt		FAT atypical cadherin 1							99	100	99					4																	187521297		1971	4147	6118	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187521297C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11858G>T	4.37:g.187521297C>A	ENSP00000406229:p.Gly3953Val	HNSCC(5;0.00058)					p.G3953V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			22	12067	-			3953			Laminin G-like.			Missense_Mutation	SNP	ENST00000441802.2	37	c.11858G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043601	0.93685	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.96716	-4.1	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98858	1.0761	10	0.52906	T	0.07	.	18.7161	0.91677	0.0:1.0:0.0:0.0	.	3953	Q14517	FAT1_HUMAN	V	3953;3955	ENSP00000406229:G3953V	ENSP00000260147:G3955V	G	-	2	0	FAT1	187758291	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.490000	0.81461	2.726000	0.93360	0.655000	0.94253	GGT		0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		14	361	1	0	4.36969e-10	1	4.64935e-10	14	361					A	187521297	C	A	187521297	3	1	126	1	0	0	0	0	1	0	0	0	5714	507	18	3	1932	3	FAT1	4	187521297	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	27254960	187521297	3632979	25	38968											
MEGF10	84466	broad.mit.edu	37	chr5	126732303	126732303	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtgcaaccccatcacCggggcttgccactgtgctgc	11	16	2	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:126732303C>T	ENST00000274473.6	+	7	759	c.492C>T	c.(490-492)acC>acT	p.T164T	MEGF10_ENST00000503335.2_Silent_p.T164T|MEGF10_ENST00000418761.2_Silent_p.T164T|MEGF10_ENST00000508365.1_Silent_p.T164T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	164	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACCCCATCACCGGGGCTTGCC	0.622																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(490-492)acC>acT		multiple EGF-like-domains 10							54	61	59					5																	126732303		2202	4299	6501	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126732303C>T	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.492C>T	5.37:g.126732303C>T						MEGF10_ENST00000508365.1_Silent_p.T164T|MEGF10_ENST00000418761.2_Silent_p.T164T|MEGF10_ENST00000503335.2_Silent_p.T164T	p.T164T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	7	759	+		Prostate(80;0.165)	164			EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.492C>T	CCDS4142.1																																																																																				0.622	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		5	398	0	0	0	1	0	5	398					T	126732303	C	T	126732303	2	4	126	1	0	0	0	0	0	0	0	1	9501	639	23	1		1	MEGF10	5	126732303	Silent	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		126732303	54182957	26	38969											
TGFBI	7045	broad.mit.edu	37	chr5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gaccctggaaactctgggcgGcaaaaaactgagagtttttg	12	8	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179	180	179					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	918	0	0	0	1	0	6	918					A	135390519	G	A	135390519	3	1	126	1	0	0	0	0	1	0	0	0	15872	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	8658216	135390519	45524741	27	38970											
EGR1	1958	broad.mit.edu	37	chr5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-													ccagagggcagcggcagcaaCagcagcagcagcagcagcgg					rs555024246|rs140268489		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:137801633_137801635delCAG	ENST00000239938.4	+	1	455_457	c.183_185delCAG	c.(181-186)aacagc>aac	p.S67del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	67	Gly/Ser-rich.				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)			gcggcagcaacagcagcagcagc	0.7																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(181-186)aac>aa		early growth response 1																																				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801633_137801635delCAG	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.183_185delCAG	5.37:g.137801642_137801644delCAG	ENSP00000239938:p.Ser67del						p.NS61del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	455_457	+			61			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.183_185delCAG	CCDS4206.1																																																																																				0.7	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		8	202						8	202	---	---	---	---	-	137801635	CAG	-	137801633	7	5	126	1	0	1	0	1	0	0	0	0	4987	477	17	0	185	0	EGR1	5	137801633	In_Frame_Del	DEL	CAG	TCGA-Z5-AAPL-01A-12D-A40W-08	2411114	137801633	43113627	28	38971											
PCDHA4	56144	broad.mit.edu	37	chr5	140188738	140188738	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tactggtgaaggaccacggcGagcccgcgctgacggccacg	15	14	0	2	rs558715293		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:140188738G>A	ENST00000530339.1	+	1	1966	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E656K|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E656K	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	656	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)			GGACCACGGCGAGCCCGCGCT	0.682																																						ENST00000530339.1																			0				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						c.(1966-1968)Gag>Aag									65	69	68					5																	140188738		2203	4299	6502	SO:0001583	missense	0							g.chr5:140188738G>A	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.1966G>A	5.37:g.140188738G>A	ENSP00000435300:p.Glu656Lys					PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E656K|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E656K	p.E656K	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1966	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1966G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	N	0.797	-0.756649	0.03019	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.51325	0.71;0.71;0.71	3.93	3.04	0.35103	Cadherin (4);Cadherin-like (1);	0.000000	0.40908	U	0.000988	T	0.45558	0.1348	L	0.38175	1.15	0.09310	N	1	P;P;P	0.40032	0.699;0.481;0.623	B;B;P	0.48704	0.397;0.105;0.587	T	0.31052	-0.9957	10	0.48119	T	0.1	.	9.2304	0.37432	0.1571:0.1235:0.7194:0.0	.	656;656;656	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	K	656	ENSP00000423470:E656K;ENSP00000349344:E656K;ENSP00000435300:E656K	ENSP00000349344:E656K	E	+	1	0	PCDHA4	140168922	0.004000	0.15560	0.055000	0.19348	0.018000	0.09664	-0.059000	0.11731	0.278000	0.22164	-1.626000	0.00786	GAG		0.682	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		5	406	0	0	0	1	0	5	406					A	140188738	G	A	140188738	3	1	126	1	0	0	0	0	1	0	0	0	11568	1059	37	1	1968	1	PCDHA4	5	140188738	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	2387105	140188738	40726522	29	38972											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788191	140788191	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	taaaaaggaaatacatttagAaattttcgaatctgcatccg	6	6	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:140788191A>G	ENST00000520790.1	+	1	422	c.422A>G	c.(421-423)gAa>gGa	p.E141G	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_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	141	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACATTTAGAAATTTTCGAA	0.363																																						ENST00000520790.1																			0				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						c.(421-423)gAa>gGa									96	96	96					5																	140788191		1834	4106	5940	SO:0001583	missense	0							g.chr5:140788191A>G	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.422A>G	5.37:g.140788191A>G	ENSP00000428603:p.Glu141Gly					PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.E141G	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	422	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.422A>G	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	17.47	3.397159	0.62177	.	.	ENSG00000253305	ENST00000520790	T	0.54866	0.55	5.16	5.16	0.70880	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.70544	0.3236	M	0.91406	3.205	0.23773	N	0.996885	P;P	0.45768	0.866;0.837	P;P	0.48770	0.589;0.559	T	0.69105	-0.5233	9	0.87932	D	0	.	14.9944	0.71418	1.0:0.0:0.0:0.0	.	141;141	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	G	141	ENSP00000428603:E141G	ENSP00000428603:E141G	E	+	2	0	PCDHGB6	140768375	0.990000	0.36364	0.666000	0.29783	0.959000	0.62525	3.486000	0.53215	1.943000	0.56356	0.383000	0.25322	GAA		0.363	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		8	318	0	0	0	1	0	8	318					G	140788191	A	G	140788191	3	3	126	1	0	0	0	0	1	0	0	0	11609	246	9	4	424	4	PCDHGB6	5	140788191	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	599453	140788191	40127069	30	38973											
SH3TC2	79628	broad.mit.edu	37	chr5	148407193	148407193	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	taggaagagacatcccttggGcactctggataccatgttgc	11	10	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr5:148407193G>A	ENST00000515425.1	-	11	2203	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.A248V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A694V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A586V	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	701					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)			CATCCCTTGGGCACTCTGGAT	0.522																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(742-744)gCc>gTc		SH3 domain and tetratricopeptide repeats 2							112	118	116					5																	148407193		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407193G>A	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.2102C>T	5.37:g.148407193G>A	ENSP00000423660:p.Ala701Val					SH3TC2_ENST00000512049.1_Missense_Mutation_p.A694V|SH3TC2_ENST00000515425.1_Missense_Mutation_p.A701V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A586V	p.A248V			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1631	-			701					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.743C>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.400817	0.01165	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.80738	-1.41;-0.99;-0.99;-0.62	6.16	0.91	0.19337	.	0.676499	0.15440	N	0.262254	T	0.60907	0.2305	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.10296	0.003;0.001;0.0;0.001	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.43988	-0.9357	10	0.33141	T	0.24	0.0658	2.7471	0.05270	0.3708:0.1077:0.4114:0.1101	.	586;694;701;701	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	V	248;701;694;586	ENSP00000441427:A248V;ENSP00000423660:A701V;ENSP00000421860:A694V;ENSP00000377886:A586V	ENSP00000377886:A586V	A	-	2	0	SH3TC2	148387386	0.000000	0.05858	0.018000	0.16275	0.056000	0.15407	-0.600000	0.05693	-0.109000	0.12044	0.650000	0.86243	GCC		0.522	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		9	462	0	0	0	1	0	9	462					A	148407193	G	A	148407193	3	1	126	1	0	0	0	0	1	0	0	0	14312	1203	42	2	1792	2	SH3TC2	5	148407193	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	7619002	148407193	32508067	31	38974											
FOXP4	116113	broad.mit.edu	37	chr6	41555185	41555186	+	Frame_Shift_Ins	INS	-	-	C													ccgctccccccaaggtctcaINSccccccctctcccaccatac							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:41555185_41555186insC	ENST00000307972.4	+	6	819_820	c.807_808insC	c.(808-810)cccfs	p.P270fs	FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.P270fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.P268fs|FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.P269fs|FOXP4_ENST00000373060.1_Frame_Shift_Ins_p.P270fs			Q8IVH2	FOXP4_HUMAN	forkhead box P4	270					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAAGGTCTCACCCCCCCTCTC	0.678											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000373060.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16						c.(805-810)tcccccfs		forkhead box P4																																				SO:0001589	frameshift_variant	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41555185_41555186insC	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.814dupC	6.37:g.41555192_41555192dupC	ENSP00000309823:p.Pro270fs		OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000307972.4_Frame_Shift_Ins_p.SP269fs|FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.SP268fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.SP267fs	p.SP269fs	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN			7	1265_1266	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		269					Q5W098|Q7Z7F8|Q8IW55|Q96E19	Frame_Shift_Ins	INS	ENST00000307972.4	37	c.807_808insC	CCDS34447.1																																																																																				0.678	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		8	557						8	557	---	---	---	---	C	41555186	-	C	41555185	7	5	126	1	0	1	1	0	0	0	0	0	6056	146	6	0	829	0	FOXP4	6	41555185	Frame_Shift_Ins	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08		41555185	129559882	32	38975											
MAP3K7	6885	broad.mit.edu	37	chr6	91281458	91281458	+	Missense_Mutation	SNP	T	T	A	0	0	0	0	0	0	0	0	0	0	0	0	tcagattcactttctatttgTttaatagcaacatcttttgc	4	8	4	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:91281458T>A	ENST00000369329.3	-	2	350	c.189A>T	c.(187-189)aaA>aaT	p.K63N	MAP3K7_ENST00000369332.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369325.3_Missense_Mutation_p.K63N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	63	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)		TTTCTATTTGTTTAATAGCAA	0.343																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(187-189)aaA>aaT		mitogen-activated protein kinase kinase kinase 7							153	139	144					6																	91281458		2203	4299	6502	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91281458T>A	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.189A>T	6.37:g.91281458T>A	ENSP00000358335:p.Lys63Asn					MAP3K7_ENST00000369325.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369332.3_Missense_Mutation_p.K63N|MAP3K7_ENST00000369327.3_Missense_Mutation_p.K63N	p.K63N	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		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)	2	350	-		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)	63			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.189A>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049793	0.75846	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.57	0.54	0.17163	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.083754	0.85682	D	0.000000	D	0.83718	0.5315	H	0.96833	3.89	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	0.84563	0.0651	10	0.87932	D	0	.	9.6418	0.39844	0.0:0.3498:0.0:0.6502	.	63;63;63;63	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	N	63	ENSP00000358338:K63N;ENSP00000358335:K63N;ENSP00000358331:K63N;ENSP00000358333:K63N	ENSP00000358331:K63N	K	-	3	2	MAP3K7	91338179	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.788000	0.26872	-0.119000	0.11830	0.455000	0.32223	AAA		0.343	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		5	258	0	0	0	1	0	5	258					A	91281458	T	A	91281458	3	1	126	1	0	0	0	0	1	0	0	0	9296	1722	60	5	1695	5	MAP3K7	6	91281458	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08	49726273	91281458	79833609	33	38976											
C6orf174	387104	broad.mit.edu	37	chr6	127797110	127797110	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggtgccgcgcgctgtcGtggccgccggacttgtactt	15	13	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:127797110G>A	ENST00000525778.1	-	6	2806	c.2061C>T	c.(2059-2061)caC>caT	p.H687H	SOGA3_ENST00000368268.2_Silent_p.H687H|SOGA3_ENST00000556132.1_Silent_p.H687H|SOGA3_ENST00000465909.2_Silent_p.H687H|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Silent_p.H687H			Q5TF21	SOGA3_HUMAN	SOGA family member 3	687					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCGCGCTGTCGTGGCCGCCGG	0.652																																						ENST00000556132.1																			0											c.(2059-2061)caC>caT		SOGA family member 3							71	77	75					6																	127797110		2190	4291	6481	SO:0001819	synonymous_variant	387104					integral to membrane		g.chr6:127797110G>A	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.2061C>T	6.37:g.127797110G>A						SOGA3_ENST00000481848.2_Silent_p.H687H|SOGA3_ENST00000368268.2_Silent_p.H687H|SOGA3_ENST00000465909.2_Silent_p.H687H|SOGA3_ENST00000525778.1_Silent_p.H687H	p.H687H	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	2925	-			687						Silent	SNP	ENST00000525778.1	37	c.2061C>T	CCDS43505.1																																																																																				0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		15	419	0	0	0	1	0	15	419					A	127797110	G	A	127797110	2	1	126	1	0	0	0	0	0	0	0	1	2352	1136	40	1		1	C6orf174	6	127797110	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	36515652	127797110	43317957	34	38977											
IYD	389434	broad.mit.edu	37	chr6	150719206	150719206	+	Missense_Mutation	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	tttagaatgcaggtctggtgActgtcactaccactcctctc	8	12	3	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr6:150719206A>G	ENST00000344419.3	+	5	843	c.703A>G	c.(703-705)Act>Gct	p.T235A	IYD_ENST00000229447.5_Missense_Mutation_p.D272G|IYD_ENST00000392256.2_3'UTR	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	235					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGGTCTGGTGACTGTCACTAC	0.547																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(703-705)Act>Gct		iodotyrosine deiodinase							97	93	94					6																	150719206		2203	4300	6503	SO:0001583	missense	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150719206A>G	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"chromosome 6 open reading frame 71"	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.703A>G	6.37:g.150719206A>G	ENSP00000343763:p.Thr235Ala					IYD_ENST00000229447.5_Missense_Mutation_p.D272G|IYD_ENST00000392256.2_3'UTR	p.T235A	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	5	843	+		Ovarian(120;0.028)	235					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	c.703A>G	CCDS5227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.13|19.13	3.767314|3.767314	0.69878|0.69878	.|.	.|.	ENSG00000009765|ENSG00000009765	ENST00000229447|ENST00000344419	D|T	0.89270|0.76578	-2.49|-1.03	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Nitroreductase-like (3);	1.386530|.	0.04568|.	N|.	0.392699|.	T|T	0.74199|0.74199	0.3685|0.3685	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	P|B;B	0.39282|0.32543	0.666|0.375;0.105	B|B;B	0.33339|0.40329	0.162|0.28;0.326	T|T	0.75539|0.75539	-0.3282|-0.3282	10|9	0.12430|0.45353	T|T	0.62|0.12	-7.4588|-7.4588	16.6127|16.6127	0.84892|0.84892	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	272|153;235	C9JFW2|Q2VPV9;Q6PHW0	.|.;IYD1_HUMAN	G|A	272|235	ENSP00000229447:D272G|ENSP00000343763:T235A	ENSP00000229447:D272G|ENSP00000343763:T235A	D|T	+|+	2|1	0|0	IYD|IYD	150760899|150760899	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.980000|0.980000	0.70556|0.70556	9.158000|9.158000	0.94723|0.94723	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	GAC|ACT		0.547	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		9	431	0	0	0	1	0	9	431					G	150719206	A	G	150719206	3	3	126	1	0	0	0	0	1	0	0	0	7962	275	10	4	898	4	IYD	6	150719206	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	22922096	150719206	20395861	35	38978											
SPDYE3	441272	broad.mit.edu	37	chr7	99913460	99913460	+	Silent	SNP	A	A	G	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagatctgagggtgtcAgacaaggtaaggttgttctc	13	6	3	3	rs201349757		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253	273	266					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	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.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		9	1001	0	0	0	1	0	9	1001					G	99913460	A	G	99913460	2	3	126	1	0	0	0	0	0	0	0	1	15082	175	7	4		4	SPDYE3	7	99913460	Silent	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08		99913460	59225203	36	38979											
HBP1	26959	broad.mit.edu	37	chr7	106826346	106826346	+	Missense_Mutation	SNP	C	C	A													agagtgaaccagccttccctCatcaccattggaaggaggaa							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:106826346C>A	ENST00000222574.4	+	4	685	c.499C>A	c.(499-501)Cat>Aat	p.H167N	HBP1_ENST00000485846.1_Missense_Mutation_p.H167N|HBP1_ENST00000468410.1_Missense_Mutation_p.H167N	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	167					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						AGCCTTCCCTCATCACCATTG	0.413																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(499-501)Cat>Aat		HMG-box transcription factor 1							138	122	127					7																	106826346		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826346C>A	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.499C>A	7.37:g.106826346C>A	ENSP00000222574:p.His167Asn					HBP1_ENST00000468410.1_Missense_Mutation_p.H167N|HBP1_ENST00000485846.1_Missense_Mutation_p.H167N	p.H167N	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			4	685	+			167					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.499C>A	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375643	0.42105	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.98876	-5.2;-5.2;-5.2	5.79	4.83	0.62350	.	0.150320	0.56097	D	0.000028	D	0.93825	0.8025	N	0.03608	-0.345	0.37444	D	0.914534	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.91431	0.5166	10	0.49607	T	0.09	-9.1747	11.4465	0.50127	0.3903:0.6097:0.0:0.0	.	177;167;167	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	N	167;167;167;159	ENSP00000420500:H167N;ENSP00000222574:H167N;ENSP00000418738:H167N	ENSP00000222574:H167N	H	+	1	0	HBP1	106613582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.441000	0.59981	2.704000	0.92352	0.655000	0.94253	CAT		0.413	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		8	472	1	0	5.18039e-06	1	5.46819e-06	8	472					A	106826346	C	A	106826346	3	1	126	1	0	0	0	0	1	0	0	0	7015	826	29	3	509	3	HBP1	7	106826346	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	6912886	106826346	52312317	37	38980	240	2									
HBP1	26959	broad.mit.edu	37	chr7	106826349	106826349	+	Missense_Mutation	SNP	C	C	T													gtgaaccagccttccctcatCaccattggaaggaggaaaca							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:106826349C>T	ENST00000222574.4	+	4	688	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	HBP1_ENST00000485846.1_Missense_Mutation_p.H168Y|HBP1_ENST00000468410.1_Missense_Mutation_p.H168Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	168					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						CTTCCCTCATCACCATTGGAA	0.413																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(502-504)Cac>Tac		HMG-box transcription factor 1							134	119	124					7																	106826349		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826349C>T	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.502C>T	7.37:g.106826349C>T	ENSP00000222574:p.His168Tyr					HBP1_ENST00000468410.1_Missense_Mutation_p.H168Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H168Y	p.H168Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			4	688	+			168					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.502C>T	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392565	0.42410	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.98978	-5.29;-5.29;-5.29	5.78	4.89	0.63831	.	0.221447	0.53938	D	0.000060	D	0.95903	0.8666	N	0.14661	0.345	0.24569	N	0.993934	B;B;B	0.26258	0.037;0.145;0.09	B;B;B	0.27170	0.029;0.077;0.035	D	0.91857	0.5496	10	0.52906	T	0.07	-5.8017	10.2698	0.43477	0.2493:0.6266:0.1241:0.0	.	178;168;168	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	Y	168;168;168;160	ENSP00000420500:H168Y;ENSP00000222574:H168Y;ENSP00000418738:H168Y	ENSP00000222574:H168Y	H	+	1	0	HBP1	106613585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.843000	0.39259	1.406000	0.46857	0.655000	0.94253	CAC		0.413	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		8	461	0	0	0	1	0	8	461					T	106826349	C	T	106826349	3	4	126	1	0	0	0	0	1	0	0	0	7015	826	29	2	512	2	HBP1	7	106826349	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	3	106826349	52312314	38	38981	240	2									
HBP1	26959	broad.mit.edu	37	chr7	106826825	106826825	+	Missense_Mutation	SNP	C	C	G	0	1	1	0	1	0	1	1	0	1	1	0	ggcaaatagtgagtcagaatCtggcattttctgcatgtcct	10	8	3	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr7:106826825C>G	ENST00000222574.4	+	5	746	c.560C>G	c.(559-561)tCt>tGt	p.S187C	HBP1_ENST00000468410.1_Missense_Mutation_p.S187C|HBP1_ENST00000485846.1_Missense_Mutation_p.S187C	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	187					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						GAGTCAGAATCTGGCATTTTC	0.353																																						ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(559-561)tCt>tGt		HMG-box transcription factor 1							176	164	168					7																	106826825		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826825C>G	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.560C>G	7.37:g.106826825C>G	ENSP00000222574:p.Ser187Cys					HBP1_ENST00000468410.1_Missense_Mutation_p.S187C|HBP1_ENST00000485846.1_Missense_Mutation_p.S187C	p.S187C	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			5	746	+			187					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.560C>G	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552901	0.86127	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99292	-5.7;-5.7;-5.7	5.87	5.87	0.94306	.	0.045544	0.85682	D	0.000000	D	0.99020	0.9665	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.97;0.996;0.991	D	0.99933	1.1335	10	0.87932	D	0	-17.6824	20.206	0.98277	0.0:1.0:0.0:0.0	.	197;187;187	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	C	187;187;187;179	ENSP00000420500:S187C;ENSP00000222574:S187C;ENSP00000418738:S187C	ENSP00000222574:S187C	S	+	2	0	HBP1	106614061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.785000	0.95823	0.655000	0.94253	TCT		0.353	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		10	583	0	0	0	1	0	10	583					G	106826825	C	G	106826825	3	3	126	1	0	0	0	0	1	0	0	0	7015	913	32	5	574	5	HBP1	7	106826825	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	476	106826825	52311838	39	38982											
PRSS55	203074	broad.mit.edu	37	chr8	10389055	10389055	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttggggccagaccaatgctGgtatgtgactgctcagcttc	13	10	1	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:10389055G>A	ENST00000328655.3	+	3	638	c.598G>A	c.(598-600)Gct>Act	p.A200T	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Splice_Site_p.A200T	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GACCAATGCTGGTATGTGACT	0.597																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.e3+1		protease, serine, 55							41	39	39					8																	10389055		2203	4299	6502	SO:0001630	splice_region_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10389055G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"Serine peptidases / Serine peptidases"	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.598+1G>A	8.37:g.10389055G>A						PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Splice_Site_p.A200_splice	p.A200_splice	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			3	638	+			200			Peptidase S1.		E5RJX5	Splice_Site	SNP	ENST00000328655.3	37	c.598_splice	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067468	0.20067	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.92752	-3.1;-3.1	4.98	3.07	0.35406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.277430	0.02191	N	0.061344	D	0.84088	0.5395	N	0.11789	0.175	0.30422	N	0.77797	B	0.20671	0.047	B	0.19148	0.024	T	0.74070	-0.3783	10	0.19590	T	0.45	.	5.7986	0.18401	0.2921:0.0:0.7079:0.0	.	200	Q6UWB4	PRS55_HUMAN	T	200	ENSP00000333003:A200T;ENSP00000430459:A200T	ENSP00000333003:A200T	A	+	1	0	PRSS55	10426465	0.954000	0.32549	0.319000	0.25293	0.107000	0.19398	1.531000	0.36018	0.657000	0.30906	0.655000	0.94253	GCT		0.597	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	Missense_Mutation	4	238	0	0	0	1	0	4	238					A	10389055	G	A	10389055	5	1	126	1	0	0	0	0	0	0	1	0	12681	1362	47	2	608	2	PRSS55	8	10389055	Splice_Site	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		10389055	135974967	40	38983											
PCM1	5108	broad.mit.edu	37	chr8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaaatctacaagtagtaaccGcaaaaatcaattagatacaa	4	7	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:17829972G>A	ENST00000519253.1	+	23	3970	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000325083.8_Missense_Mutation_p.R1240H			Q15154	PCM1_HUMAN	pericentriolar material 1	1240					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTAACCGCAAAAATCAA	0.383			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"E, L"	"RET, JAK2"		"papillary thyroid, CML, MPD"	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(3718-3720)cGc>cAc		pericentriolar material 1							91	86	87					8																	17829972		1848	4087	5935	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17829972G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3719G>A	8.37:g.17829972G>A	ENSP00000431099:p.Arg1240His					PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1240H	p.R1240H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	23	4158	+			1240					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.3719G>A		.	.	.	.	.	.	.	.	.	.	G	1.036	-0.680456	0.03353	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.50277	0.75;0.75;0.75	4.97	3.19	0.36642	.	0.364612	0.32416	N	0.006134	T	0.15435	0.0372	N	0.00926	-1.1	0.80722	D	1	B;B;B;B	0.13145	0.0;0.007;0.0;0.007	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.03034	-1.1080	10	0.27082	T	0.32	-1.6817	4.7527	0.13068	0.3013:0.1584:0.5402:0.0	.	102;1240;1241;1240	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	H	1240;1240;1241	ENSP00000327077:R1240H;ENSP00000431099:R1240H;ENSP00000430521:R1241H	ENSP00000327077:R1240H	R	+	2	0	PCM1	17874252	0.837000	0.29446	1.000000	0.80357	0.087000	0.18053	0.636000	0.24644	0.776000	0.33473	-0.424000	0.05967	CGC		0.383	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		5	341	0	0	0	1	0	5	341					A	17829972	G	A	17829972	3	1	126	1	0	0	0	0	1	0	0	0	11626	1087	38	1	3801	1	PCM1	8	17829972	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	7440917	17829972	128534050	41	38984											
ESCO2	157570	broad.mit.edu	37	chr8	27634576	27634577	+	Frame_Shift_Ins	INS	-	-	A													tgatgtagagactgtcagtgINSaaaaaaaaacttttgcgaca					rs80359854|rs80359853		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:27634576_27634577insA	ENST00000305188.8	+	3	989_990	c.751_752insA	c.(751-753)gaafs	p.E251fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	251					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)		GACTGTCAGTGAAAAAAAAACT	0.396									SC Phocomelia syndrome																													ENST00000305188.8																			0				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	GRCh37	CI054453	ESCO2	I	rs80359852	c.(751-753)aaafs		establishment of sister chromatid cohesion N-acetyltransferase 2																																				SO:0001589	frameshift_variant	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634576_27634577insA	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.760dupA	8.37:g.27634585_27634585dupA	ENSP00000306999:p.Glu251fs					ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	p.K251fs	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		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)	3	989_990	+		Ovarian(32;0.000953)	251					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.751_752insA	CCDS34872.1																																																																																				0.396	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		7	335						7	335	---	---	---	---	A	27634577	-	A	27634576	7	5	126	1	0	1	1	0	0	0	0	0	5267	1291	45	0	757	0	ESCO2	8	27634576	Frame_Shift_Ins	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08	9804604	27634576	118729446	42	38985											
ERLIN2	11160	broad.mit.edu	37	chr8	37611540	37611540	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aacatgttcatggactctgcGggcagtgtgagcaagcagtt	13	8	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:37611540G>A	ENST00000276461.5	+	12	994	c.927G>A	c.(925-927)gcG>gcA	p.A309A	ERLIN2_ENST00000519638.1_Silent_p.A309A	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	309	Interaction with ERLIN1.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGACTCTGCGGGCAGTGTGA	0.458																																						ENST00000276461.5																			0				NS(1)|large_intestine(1)|lung(5)	7						c.(925-927)gcG>gcA		ER lipid raft associated 2							109	97	101					8																	37611540		2203	4300	6503	SO:0001819	synonymous_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37611540G>A	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"chromosome 8 open reading frame 2", "SPFH domain family, member 2"	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.927G>A	8.37:g.37611540G>A						ERLIN2_ENST00000519638.1_Silent_p.A309A	p.A309A	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	994	+		Lung NSC(58;0.174)	309			Interaction with ERLIN1.		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	ENST00000276461.5	37	c.927G>A	CCDS6095.1																																																																																				0.458	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		8	276	0	0	0	1	0	8	276					A	37611540	G	A	37611540	2	1	126	1	0	0	0	0	0	0	0	1	5251	1103	39	1		1	ERLIN2	8	37611540	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	9976964	37611540	108752482	43	38986											
TTPA	7274	broad.mit.edu	37	chr8	63978492	63978492	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaatcttcttggctaCggatggagtgatttgaaaag	12	6	2	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:63978492C>T	ENST00000260116.4	-	3	554	c.523G>A	c.(523-525)Gta>Ata	p.V175I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	175	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(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)	TTCTTGGCTACGGATGGAGTG	0.363																																						ENST00000260116.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15						c.(523-525)Gta>Ata		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						110	100	104					8																	63978492		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63978492C>T	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.523G>A	8.37:g.63978492C>T	ENSP00000260116:p.Val175Ile					TTPA_ENST00000521138.1_Intron	p.V175I	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN			3	554	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	175			CRAL-TRIO.		Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.523G>A	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711188	0.30322	.	.	ENSG00000137561	ENST00000260116	D	0.84730	-1.89	5.54	5.54	0.83059	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.117859	0.64402	D	0.000018	T	0.77438	0.4130	L	0.39326	1.205	0.38379	D	0.945074	B	0.26635	0.155	B	0.28916	0.096	T	0.70995	-0.4720	10	0.06625	T	0.88	.	12.7789	0.57466	0.0:0.9251:0.0:0.0749	.	175	P49638	TTPA_HUMAN	I	175	ENSP00000260116:V175I	ENSP00000260116:V175I	V	-	1	0	TTPA	64141046	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.504000	0.45416	2.600000	0.87896	0.655000	0.94253	GTA		0.363	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		5	310	0	0	0	1	0	5	310					T	63978492	C	T	63978492	3	4	126	1	0	0	0	0	1	0	0	0	16790	536	19	1	325	1	TTPA	8	63978492	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	26366952	63978492	82385530	44	38987											
LRRCC1	85444	broad.mit.edu	37	chr8	86027758	86027758	+	Missense_Mutation	SNP	A	A	T	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaataatcatgaaaacgAtttgcagaatgagataaaac	7	4	1	3			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:86027758A>T	ENST00000360375.3	+	6	1018	c.869A>T	c.(868-870)gAt>gTt	p.D290V	LRRCC1_ENST00000414626.2_Missense_Mutation_p.D270V	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	290					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						CATGAAAACGATTTGCAGAAT	0.343																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(808-810)gAt>gTt		leucine rich repeat and coiled-coil centrosomal protein 1							65	61	62					8																	86027758		1850	4095	5945	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86027758A>T	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.869A>T	8.37:g.86027758A>T	ENSP00000353538:p.Asp290Val					LRRCC1_ENST00000360375.3_Missense_Mutation_p.D290V	p.D270V			Q9C099	LRCC1_HUMAN			5	1698	+			290					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.809A>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	5.311	0.242664	0.10077	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.34275	1.37;1.4	5.57	3.14	0.36123	.	1.203710	0.06173	N	0.678078	T	0.36580	0.0972	L	0.54323	1.7	0.09310	N	1	P;P;B	0.41188	0.741;0.573;0.011	B;B;B	0.41988	0.372;0.203;0.013	T	0.23868	-1.0176	10	0.49607	T	0.09	-5.7178	4.583	0.12267	0.7396:0.0:0.0908:0.1695	.	270;197;290	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	V	197;290;270	ENSP00000353538:D290V;ENSP00000394695:D270V	ENSP00000353538:D290V	D	+	2	0	LRRCC1	86215010	0.902000	0.30710	0.049000	0.19019	0.001000	0.01503	2.486000	0.45259	0.373000	0.24621	0.482000	0.46254	GAT		0.343	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		5	163	0	0	0	1	0	5	163					T	86027758	A	T	86027758	3	4	126	1	0	0	0	0	1	0	0	0	9064	333	12	5	891	5	LRRCC1	8	86027758	Missense_Mutation	SNP	A	TCGA-Z5-AAPL-01A-12D-A40W-08	22049266	86027758	60336264	45	38988											
RIMS2	9699	broad.mit.edu	37	chr8	104898176	104898176	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agatagaccagacttgaggcGtactgactcactacggaaac	10	10	1	5			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:104898176G>A	ENST00000436393.2	+	2	924	c.683G>A	c.(682-684)cGt>cAt	p.R228H	RIMS2_ENST00000507740.1_Missense_Mutation_p.R258H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R258H|RIMS2_ENST00000406091.3_Missense_Mutation_p.R450H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	481					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)			GACTTGAGGCGTACTGACTCA	0.463										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(772-774)cGt>cAt		regulating synaptic membrane exocytosis 2							107	97	100					8																	104898176		1941	4150	6091	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898176G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.683G>A	8.37:g.104898176G>A	ENSP00000390665:p.Arg228His	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.R450H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R228H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R258H	p.R258H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	1009	+			481					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.773G>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.986352	0.74589	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.19250	2.16;2.65;2.22;2.27;2.3;2.23;2.62	5.65	5.65	0.86999	.	.	.	.	.	T	0.42154	0.1190	L	0.43152	1.355	0.80722	D	1	P;D;D;D;D	0.89917	0.474;0.999;0.999;1.0;1.0	B;D;D;D;D	0.87578	0.087;0.992;0.983;0.995;0.998	T	0.10405	-1.0631	9	0.54805	T	0.06	.	19.7233	0.96151	0.0:0.0:1.0:0.0	.	481;228;258;258;450	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	450;481;450;481;258;258;258;258;228	ENSP00000427018:R450H;ENSP00000384892:R450H;ENSP00000425205:R258H;ENSP00000262231:R258H;ENSP00000423559:R258H;ENSP00000386228:R258H;ENSP00000390665:R228H	ENSP00000262231:R258H	R	+	2	0	RIMS2	104967352	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.553000	0.73918	2.653000	0.90120	0.563000	0.77884	CGT		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		6	280	0	0	0	1	0	6	280					A	104898176	G	A	104898176	3	1	126	1	0	0	0	0	1	0	0	0	13418	1145	40	1	1489	1	RIMS2	8	104898176	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	18870418	104898176	41465846	46	38989											
KCNQ3	3786	broad.mit.edu	37	chr8	133141614	133141614	+	Silent	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtccgtgtctgtgtcCgtctcaccctcggcgaggta	14	12	2	0	rs568466967		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:133141614C>T	ENST00000388996.4	-	15	2934	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	KCNQ3_ENST00000521134.1_Silent_p.T718T|KCNQ3_ENST00000519445.1_Silent_p.T826T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	838					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)	TGTCTGTGTCCGTCTCACCCT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18584	0.0		0.001	False		,,,				2504	0.0					ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(2512-2514)acG>acA		potassium voltage-gated channel, KQT-like subfamily, member 3							84	71	75					8																	133141614		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133141614C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2514G>A	8.37:g.133141614C>T						KCNQ3_ENST00000521134.1_Silent_p.T718T|KCNQ3_ENST00000519445.1_Silent_p.T826T	p.T838T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		15	2934	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		838					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.2514G>A	CCDS34943.1																																																																																				0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		7	187	0	0	0	1	0	7	187					T	133141614	C	T	133141614	2	4	126	1	0	0	0	0	0	0	0	1	8114	639	23	1		1	KCNQ3	8	133141614	Silent	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	28243438	133141614	13222408	47	38990											
PARP10	84875	broad.mit.edu	37	chr8	145059362	145059362	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	agcatgcttggtagccctagGcccctgggtggacgggtggt	17	10	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr8:145059362G>A	ENST00000313028.7	-	5	902	c.808C>T	c.(808-810)Cct>Tct	p.P270S	PARP10_ENST00000525773.1_Missense_Mutation_p.P282S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.P270S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	270					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)			GTAGCCCTAGGCCCCTGGGTG	0.652																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(808-810)Cct>Tct		poly (ADP-ribose) polymerase family, member 10							68	68	68					8																	145059362		2203	4300	6503	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145059362G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.808C>T	8.37:g.145059362G>A	ENSP00000325618:p.Pro270Ser					PARP10_ENST00000524918.1_Missense_Mutation_p.P270S|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P282S	p.P270S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	902	-	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)		270					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.808C>T	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	2.898	-0.228166	0.06022	.	.	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.30182	3.01;3.02;3.0;1.54	3.23	-2.24	0.06909	.	0.851711	0.09771	N	0.758047	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B;B;B	0.15141	0.006;0.012;0.006	B;B;B	0.11329	0.006;0.006;0.006	T	0.36601	-0.9741	10	0.13470	T	0.59	.	7.6289	0.28228	0.6322:0.0:0.3678:0.0	.	282;270;270	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	S	270;270;282;185	ENSP00000431620:P270S;ENSP00000325618:P270S;ENSP00000434776:P282S;ENSP00000314320:P185S	ENSP00000325618:P270S	P	-	1	0	PARP10	145131350	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.671000	0.01954	-0.729000	0.04875	-0.266000	0.10368	CCT		0.652	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		7	331	0	0	0	1	0	7	331					A	145059362	G	A	145059362	3	1	126	1	0	0	0	0	1	0	0	0	11497	1203	42	2	2297	2	PARP10	8	145059362	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	11917748	145059362	1304660	48	38991											
VPS13A	23230	broad.mit.edu	37	chr9	79996923	79996923	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	cttctgaagtggagagtctgCgacctcctcggttcttcaat	10	11	4	2	rs199807227		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr9:79996923C>T	ENST00000360280.3	+	68	9369	c.9109C>T	c.(9109-9111)Cga>Tga	p.R3037*	VPS13A_ENST00000357409.5_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.R2998*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.R3037*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3037					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						GGAGAGTCTGCGACCTCCTCG	0.343																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104	GRCh37	CM011922	VPS13A	M		c.(9109-9111)Cga>Tga		vacuolar protein sorting 13 homolog A (S. cerevisiae)		C	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	51	51	51		8992,9109,9109,9109	5.3	1	9		51	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained,stop-gained,stop-gained	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	2998/3136,3037/3070,3037/3096,3037/3175	79996923	1,13005	2203	4300	6503	SO:0001587	stop_gained	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79996923C>T	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.9109C>T	9.37:g.79996923C>T	ENSP00000353422:p.Arg3037*					VPS13A_ENST00000376634.4_Nonsense_Mutation_p.R3037*|VPS13A_ENST00000376636.3_Nonsense_Mutation_p.R2998*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.R3037*	p.R3037*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			68	9369	+			3037					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	37	c.9109C>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	51	17.370726	0.99885	0.0	1.16E-4	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.33	5.33	0.75918	.	0.201597	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5934	0.88004	0.0:1.0:0.0:0.0	.	.	.	.	X	3037;2998;3037;3037	.	.	R	+	1	2	VPS13A	79186743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.663000	0.61532	2.494000	0.84150	0.585000	0.79938	CGA		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		6	293	0	0	0	1	0	6	293					T	79996923	C	T	79996923	4	4	126	1	0	0	0	0	0	1	0	0	17243	760	27	1	9379	1	VPS13A	9	79996923	Nonsense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		79996923	61216508	49	38992											
OR13C4	138804	broad.mit.edu	37	chr9	107288998	107288998	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gttcccacagaaaggccatcGcatggcaagtgatgtttgca	11	10	0	2	rs373326335		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr9:107288998G>A	ENST00000277216.3	-	1	492	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAGGCCATCGCATGGCAAGT	0.383																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(493-495)Cga>Tga		olfactory receptor, family 13, subfamily C, member 4		A	stop/ARG	0,4406		0,0,2203	120	113	115		493	-8.2	0	9		115	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	OR13C4	NM_001001919.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		165/319	107288998	1,13005	2203	4300	6503	SO:0001587	stop_gained	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288998G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.493C>T	9.37:g.107288998G>A	ENSP00000277216:p.Arg165*						p.R165*	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	492	-			165					Q6IF51|Q96R41	Nonsense_Mutation	SNP	ENST00000277216.3	37	c.493C>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	g	5.300	0.240786	0.10077	0.0	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	.	.	.	4.12	-8.23	0.01033	.	2.814870	0.01724	U	0.028469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	5.676	0.17749	0.3553:0.0:0.1292:0.5156	.	.	.	.	X	165;194	.	ENSP00000277216:R165X	R	-	1	2	OR13C4	106328819	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-3.043000	0.00631	-1.604000	0.01595	-2.730000	0.00130	CGA		0.383	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			5	403	0	0	0	1	0	5	403					A	107288998	G	A	107288998	4	1	126	1	0	0	0	0	0	1	0	0	10978	1095	38	1	465	1	OR13C4	9	107288998	Nonsense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	27292075	107288998	33924433	50	38993											
CRB2	286204	broad.mit.edu	37	chr9	126133548	126133548	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggtcggatccgggctgaggtGccgggcagtcctgctgtagt	18	10	0	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr9:126133548G>A	ENST00000373631.3	+	8	2128	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	CRB2_ENST00000373629.2_Silent_p.V377V|CRB2_ENST00000359999.3_Silent_p.V709V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	709	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.		V -> A (in dbSNP:rs2488602). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15851977}.		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						GGGCTGAGGTGCCGGGCAGTC	0.647																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(2125-2127)gtG>gtA		crumbs homolog 2 (Drosophila)							114	120	118					9																	126133548		2203	4300	6503	SO:0001819	synonymous_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133548G>A	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.2127G>A	9.37:g.126133548G>A						CRB2_ENST00000373629.2_Silent_p.V377V|CRB2_ENST00000359999.3_Silent_p.V709V	p.V709V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN			8	2128	+			709		V -> A (in dbSNP:rs2488602).	Laminin G-like 2.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	ENST00000373631.3	37	c.2127G>A	CCDS6852.2																																																																																				0.647	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		7	750	0	0	0	1	0	7	750					A	126133548	G	A	126133548	2	1	126	1	0	0	0	0	0	0	0	1	3858	1306	46	2		2	CRB2	9	126133548	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	18844550	126133548	15079883	51	38994											
DNA2	1763	broad.mit.edu	37	chr10	70176584	70176584	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	tggttatagcaacattaagaCgtcgccaatctttcaagagt	8	8	2	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:70176584C>A	ENST00000358410.3	-	20	3046	c.2996G>T	c.(2995-2997)cGt>cTt	p.R999L	DNA2_ENST00000399179.2_Missense_Mutation_p.R761L|DNA2_ENST00000399180.2_Missense_Mutation_p.R1085L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	999	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AACATTAAGACGTCGCCAATC	0.368																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(3253-3255)cGt>cTt		DNA replication helicase/nuclease 2							71	69	70					10																	70176584		1848	4094	5942	SO:0001583	missense	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70176584C>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2996G>T	10.37:g.70176584C>A	ENSP00000351185:p.Arg999Leu					DNA2_ENST00000358410.3_Missense_Mutation_p.R999L|DNA2_ENST00000399179.2_Missense_Mutation_p.R761L	p.R1085L			P51530	DNA2L_HUMAN			20	3253	-			999					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37	c.3254G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.101057	0.94245	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.95853	-3.83;-3.83;-3.83	5.08	5.08	0.68730	.	0.115150	0.53938	D	0.000046	D	0.98425	0.9476	H	0.94620	3.56	0.37731	D	0.92528	D;D	0.89917	1.0;0.984	D;P	0.80764	0.994;0.877	D	0.99956	1.1623	10	0.87932	D	0	.	18.4906	0.90846	0.0:1.0:0.0:0.0	.	761;999	F8VR31;P51530	.;DNA2L_HUMAN	L	761;1085;761;999	ENSP00000382133:R1085L;ENSP00000382132:R761L;ENSP00000351185:R999L	ENSP00000351185:R999L	R	-	2	0	DNA2	69846590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.356000	0.79943	0.655000	0.94253	CGT		0.368	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			4	241	1	0	0.00909568	1	0.00923455	4	241					A	70176584	C	A	70176584	3	1	126	1	0	0	0	0	1	0	0	0	4612	536	19	3	194	3	DNA2	10	70176584	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		70176584	65358163	52	38995											
KCNMA1	3778	broad.mit.edu	37	chr10	78787582	78787582	+	Splice_Site	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcaccgcaaacttaccGgctctctcggttggcagact	11	13	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:78787582G>A	ENST00000286628.8	-	16	1926	c.1927C>T	c.(1927-1929)Cgt>Tgt	p.R643C	KCNMA1_ENST00000354353.5_Splice_Site_p.R643C|KCNMA1_ENST00000404857.1_Splice_Site_p.R643C|KCNMA1_ENST00000372443.1_Splice_Site_p.R643C|KCNMA1_ENST00000404771.3_Splice_Site_p.R643C|KCNMA1_ENST00000372440.1_Splice_Site_p.R643C|KCNMA1_ENST00000406533.3_Splice_Site_p.R643C|KCNMA1_ENST00000286627.5_Splice_Site_p.R643C	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	643					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)	CAAACTTACCGGCTCTCTCGG	0.483																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.e16+1		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						140	131	134					10																	78787582		2203	4300	6503	SO:0001630	splice_region_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78787582G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1928+1C>T	10.37:g.78787582G>A						KCNMA1_ENST00000354353.5_Splice_Site_p.R643_splice|KCNMA1_ENST00000372440.1_Splice_Site_p.R643_splice|KCNMA1_ENST00000404857.1_Splice_Site_p.R643_splice|KCNMA1_ENST00000404771.3_Splice_Site_p.R643_splice|KCNMA1_ENST00000286628.8_Splice_Site_p.R643_splice|KCNMA1_ENST00000406533.3_Splice_Site_p.R643_splice|KCNMA1_ENST00000372443.1_Splice_Site_p.R643_splice	p.R643_splice	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		16	2879	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		643					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37	c.1928_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.42|16.42	3.117764|3.117764	0.56505|0.56505	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.84589	.|-1.86;-1.85;-1.85;-1.86;-1.86;-1.86;-1.79;-1.87;-1.87	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.117057	.|0.64402	.|D	.|0.000016	D|D	0.82806|0.82806	0.5117|0.5117	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B;B;B;P;B;B	.|0.52463	.|0.006;0.003;0.001;0.032;0.953;0.002;0.033	.|B;B;B;B;B;B;B	.|0.43838	.|0.001;0.001;0.003;0.005;0.433;0.004;0.011	D|D	0.84716|0.84716	0.0737|0.0737	4|9	.|0.66056	.|D	.|0.02	-5.4467|-5.4467	12.2533|12.2533	0.54610|0.54610	0.0:0.0:0.7865:0.2135|0.0:0.0:0.7865:0.2135	.|.	.|643;643;643;643;643;425;643	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96	.|.;.;.;KCMA1_HUMAN;.;.;.	L|C	631;321;135|643;580;578;617;580;643;643;617;643;643;643;425	.|ENSP00000361517:R643C;ENSP00000361485:R580C;ENSP00000361514:R578C;ENSP00000396608:R617C;ENSP00000361520:R643C;ENSP00000286627:R643C;ENSP00000385552:R643C;ENSP00000346321:R643C;ENSP00000385806:R643C	.|ENSP00000286627:R643C	P|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78457588|78457588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.020000|6.020000	0.70826|0.70826	2.628000|2.628000	0.89032|0.89032	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.483	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Missense_Mutation	10	400	0	0	0	1	0	10	400					A	78787582	G	A	78787582	5	1	126	1	0	0	0	0	0	0	1	0	8103	1130	39	1	2007	1	KCNMA1	10	78787582	Splice_Site	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	8610998	78787582	56747165	53	38996											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-													tccattacatcacagtggggCtcctcctcctcctccttccc					rs201441910		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		8	672						8	672	---	---	---	---	-	81070789	CTC	-	81070787	7	5	126	1	0	1	0	1	0	0	0	0	17749	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-Z5-AAPL-01A-12D-A40W-08	2283205	81070787	54463960	54	38997											
PAOX	196743	broad.mit.edu	37	chr10	135193525	135193525	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggtggaggtgggcgcGcactggatccatgggccctc	19	11	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr10:135193525G>A	ENST00000278060.5	+	2	287	c.204G>A	c.(202-204)gcG>gcA	p.A68A	PAOX_ENST00000368539.4_Intron|PAOX_ENST00000480071.2_Silent_p.A68A|PAOX_ENST00000357296.3_Silent_p.A68A|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	206					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGTGGGCGCGCACTGGATCC	0.677																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(202-204)gcG>gcA		polyamine oxidase (exo-N4-amino)							39	48	45					10																	135193525		2198	4298	6496	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135193525G>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.204G>A	10.37:g.135193525G>A						PAOX_ENST00000480071.2_Silent_p.A68A|PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.A68A	p.A68A	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	2	287	+		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)	206					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.204G>A	CCDS7683.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528603	0.27299	.	.	ENSG00000148832	ENST00000539775	.	.	.	5.07	-10.1	0.00402	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59553	-0.7433	6	0.87932	D	0	-19.4616	2.3134	0.04192	0.173:0.3174:0.3293:0.1803	.	.	.	.	T	37	.	ENSP00000437742:A37T	A	+	1	0	PAOX	135043515	0.001000	0.12720	0.497000	0.27552	0.975000	0.68041	-2.122000	0.01321	-1.784000	0.01272	-0.253000	0.11424	GCA		0.677	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		10	239	0	0	0	1	0	10	239					A	135193525	G	A	135193525	2	1	126	1	0	0	0	0	0	0	0	1	11465	1074	38	1		1	PAOX	10	135193525	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	54122738	135193525	341222	55	38998											
NAP1L4	4676	broad.mit.edu	37	chr11	2975837	2975837	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggaaaaagtgtccaaTttcaaaatcagaggctaatg	8	8	3	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr11:2975837T>C	ENST00000380542.4	-	12	1095	c.955A>G	c.(955-957)Att>Gtt	p.I319V	NAP1L4_ENST00000526115.1_Missense_Mutation_p.I319V	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	319					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)		AAGTGTCCAATTTCAAAATCA	0.448																																						ENST00000380542.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.(955-957)Att>Gtt		nucleosome assembly protein 1-like 4							64	63	63					11																	2975837		1868	4098	5966	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2975837T>C	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.955A>G	11.37:g.2975837T>C	ENSP00000369915:p.Ile319Val					NAP1L4_ENST00000526115.1_Missense_Mutation_p.I319V	p.I319V	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	12	1095	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	319					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.955A>G	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742296	0.49151	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.28666	1.6;1.6	4.63	4.63	0.57726	.	0.055524	0.64402	D	0.000001	T	0.34077	0.0885	M	0.64404	1.975	0.53688	D	0.999972	B;B	0.26744	0.158;0.019	B;B	0.36244	0.22;0.03	T	0.14896	-1.0456	10	0.34782	T	0.22	-17.8508	9.5911	0.39545	0.0:0.0824:0.0:0.9176	.	319;319	F5HFY4;Q99733	.;NP1L4_HUMAN	V	319	ENSP00000369915:I319V;ENSP00000436397:I319V	ENSP00000369915:I319V	I	-	1	0	NAP1L4	2932413	1.000000	0.71417	0.967000	0.41034	0.884000	0.51177	5.617000	0.67716	1.936000	0.56123	0.528000	0.53228	ATT		0.448	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		7	289	0	0	0	1	0	7	289					C	2975837	T	C	2975837	3	2	126	1	0	0	0	0	1	0	0	0	10200	1493	52	4	188	4	NAP1L4	11	2975837	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08		2975837	132030679	56	38999											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	0	1	0	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	6	17	1	0	rs121913529		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"L, E, M, O"			"pancreatic, colorectal, lung, thyroid, AML, others"	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		5	213	1	0	0.014758	1	0.0148698	5	213					A	25398284	C	A	25398284	3	1	126	1	0	0	0	0	1	0	0	0	8468	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		25398284	108453611	57	39000											
CSRNP2	81566	broad.mit.edu	37	chr12	51461619	51461619	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagcagggcccgtcgcCgtttggtgggcagaggctgc	16	14	1	1	rs148149139		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:51461619C>T	ENST00000228515.1	-	4	842	c.545G>A	c.(544-546)cGg>cAg	p.R182Q		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	182					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						GGCCCGTCGCCGTTTGGTGGG	0.537																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(544-546)cGg>cAg		cysteine-serine-rich nuclear protein 2		C	GLN/ARG	0,4406		0,0,2203	102	90	94		545	4.9	1	12	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSRNP2	NM_030809.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	182/544	51461619	1,13005	2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51461619C>T	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.545G>A	12.37:g.51461619C>T	ENSP00000228515:p.Arg182Gln						p.R182Q	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			4	842	-			182						Missense_Mutation	SNP	ENST00000228515.1	37	c.545G>A	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535451	0.64972	0.0	1.16E-4	ENSG00000110925	ENST00000228515	T	0.10860	2.83	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.05608	-0.01	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	T	0.38520	-0.9657	10	0.23302	T	0.38	-18.6725	17.4885	0.87696	0.0:1.0:0.0:0.0	.	182	Q9H175	CSRN2_HUMAN	Q	182	ENSP00000228515:R182Q	ENSP00000228515:R182Q	R	-	2	0	CSRNP2	49747886	0.171000	0.23029	1.000000	0.80357	0.995000	0.86356	0.943000	0.29030	2.758000	0.94735	0.561000	0.74099	CGG		0.537	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			11	429	0	0	0	1	0	11	429					T	51461619	C	T	51461619	3	4	126	1	0	0	0	0	1	0	0	0	3975	652	23	1	1094	1	CSRNP2	12	51461619	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	26063335	51461619	82390276	58	39001											
SMARCC2	6601	broad.mit.edu	37	chr12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G													gtccaggggggggaacccctINSggtgggactgccccaggctg							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:56559127_56559128insG	ENST00000267064.4	-	26	3199_3200	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1069fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000550164.1_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																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3205-3207)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559127_56559128insG	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					SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs	p.R1069fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3311_3312	-			1038			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3206_3207insC	CCDS8907.1																																																																																				0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	312						7	312	---	---	---	---	G	56559128	-	G	56559127	7	5	126	1	0	1	1	0	0	0	0	0	14826	1567	55	0	542	0	SMARCC2	12	56559127	Frame_Shift_Ins	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08	5097508	56559127	77292768	59	39002											
PTPRB	5787	broad.mit.edu	37	chr12	70964902	70964902	+	Nonsense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	tggtgttagggaagtaaatcGatactcggttgcggtattta	13	4	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr12:70964902G>A	ENST00000261266.5	-	11	2649	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R874*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.R1092*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R784*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R1091*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R784*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1004*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	874	Fibronectin type-III 10. {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)			GAAGTAAATCGATACTCGGTT	0.453																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(3274-3276)Cga>Tga		protein tyrosine phosphatase, receptor type, B							90	86	87					12																	70964902		1937	4134	6071	SO:0001587	stop_gained	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70964902G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2620C>T	12.37:g.70964902G>A	ENSP00000261266:p.Arg874*					PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R784*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R874*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R1004*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R1091*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R874*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R784*	p.R1092*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		13	3318	-	Renal(347;0.236)		874			Fibronectin type-III 13.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.3274C>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	36	5.958065	0.97145	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	.	.	.	5.9	3.02	0.34903	.	1.012530	0.07887	N	0.970442	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	8.9582	0.35832	0.0691:0.0:0.4405:0.4904	.	.	.	.	X	1092;784;1004;874;784;874;1091;971	.	ENSP00000261266:R874X	R	-	1	2	PTPRB	69251169	0.008000	0.16893	0.049000	0.19019	0.466000	0.32739	0.162000	0.16501	0.358000	0.24211	-0.188000	0.12872	CGA		0.453	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			5	183	0	0	0	1	0	5	183					A	70964902	G	A	70964902	4	1	126	1	0	0	0	0	0	1	0	0	12846	1066	37	1	3461	1	PTPRB	12	70964902	Nonsense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	14405775	70964902	62886993	60	39003											
FNDC3A	22862	broad.mit.edu	37	chr13	49781232	49781232	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	aacagatttacaagggtcccGactcttccttccggtattcc	7	13	1	1	rs142361918	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr13:49781232G>A	ENST00000492622.2	+	26	3603	c.3298G>A	c.(3298-3300)Gac>Aac	p.D1100N	FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N|FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1100	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CAAGGGTCCCGACTCTTCCTT	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19519	0.0		0.0	False		,,,				2504	0.0					ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(3298-3300)Gac>Aac		fibronectin type III domain containing 3A		G	ASN/ASP,ASN/ASP	10,4396	16.8+/-37.8	0,10,2193	75	75	75		3298,3130	3.5	0.1	13	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense	FNDC3A	NM_001079673.1,NM_014923.3	23,23	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign,benign	1100/1199,1044/1143	49781232	10,12996	2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49781232G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3298G>A	13.37:g.49781232G>A	ENSP00000417257:p.Asp1100Asn					FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N	p.D1100N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	26	3603	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	1100			Fibronectin type-III 9.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.3298G>A	CCDS41886.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.261	-0.615789	0.03663	0.00227	0.0	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.35605	1.31;1.31;1.3	5.23	3.51	0.40186	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.380675	0.24422	N	0.038661	T	0.23886	0.0578	L	0.35487	1.065	0.09310	N	0.999999	B;B	0.16166	0.016;0.009	B;B	0.15870	0.014;0.002	T	0.20538	-1.0272	10	0.18276	T	0.48	-4.6725	8.3463	0.32275	0.2376:0.0:0.7624:0.0	.	1044;1100	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	N	1100;1036;1100;1044	ENSP00000417257:D1100N;ENSP00000441831:D1100N;ENSP00000381362:D1044N	ENSP00000338579:D1036N	D	+	1	0	FNDC3A	48679233	1.000000	0.71417	0.066000	0.19879	0.010000	0.07245	4.351000	0.59398	0.596000	0.29794	-0.781000	0.03364	GAC		0.438	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		7	366	0	0	0	1	0	7	366					A	49781232	G	A	49781232	3	1	126	1	0	0	0	0	1	0	0	0	5994	1058	37	1	3407	1	FNDC3A	13	49781232	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		49781232	65388646	61	39004											
C14orf43	91748	broad.mit.edu	37	chr14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-													ggcatctggggtagggctgcCtgctgctgctgctgctgctg							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000486739.1_5'Flank|ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	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																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	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					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.65	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		7	100						7	100	---	---	---	---	-	74205928	CTG	-	74205926	7	5	126	1	0	1	0	1	0	0	0	0	1779	680	24	0	2395	0	C14orf43	14	74205926	In_Frame_Del	DEL	CTG	TCGA-Z5-AAPL-01A-12D-A40W-08		74205926	33143614	62	39005											
ACSBG1	23205	broad.mit.edu	37	chr15	78474328	78474328	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gaccttcagggcgtcgggttCggcaaagcaaacctgggccc	14	13	1	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr15:78474328C>T	ENST00000258873.4	-	8	1259	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E110K|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E110K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	352					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGTCGGGTTCGGCAAAGCAA	0.617																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1054-1056)Gaa>Aaa		acyl-CoA synthetase bubblegum family member 1							95	74	81					15																	78474328		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78474328C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1054G>A	15.37:g.78474328C>T	ENSP00000258873:p.Glu352Lys					ACSBG1_ENST00000560817.1_Missense_Mutation_p.E110K|ACSBG1_ENST00000541759.1_Missense_Mutation_p.E110K	p.E352K	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			8	1259	-			352					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1054G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263568	0.59431	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.11712	2.75;2.75	5.14	4.21	0.49690	AMP-dependent synthetase/ligase (1);	0.343803	0.30338	N	0.009850	T	0.12305	0.0299	L	0.54863	1.705	0.31434	N	0.672767	P;B	0.35192	0.489;0.076	B;B	0.32624	0.149;0.045	T	0.04053	-1.0981	10	0.30854	T	0.27	-20.9457	15.0902	0.72188	0.0:0.8577:0.1423:0.0	.	348;352	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	K	352;110	ENSP00000258873:E352K;ENSP00000439955:E110K	ENSP00000258873:E352K	E	-	1	0	ACSBG1	76261383	0.780000	0.28664	0.125000	0.21846	0.935000	0.57460	1.253000	0.32886	1.283000	0.44513	0.650000	0.86243	GAA		0.617	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		8	265	0	0	0	1	0	8	265					T	78474328	C	T	78474328	3	4	126	1	0	0	0	0	1	0	0	0	173	893	31	1	1148	1	ACSBG1	15	78474328	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		78474328	24057064	63	39006											
CMTM1	113540	broad.mit.edu	37	chr16	66603929	66603930	+	Frame_Shift_Ins	INS	-	-	T													tctggaaatctgcattgtcgINSttttttttattctaatatat							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr16:66603929_66603930insT	ENST00000457188.2	+	2	293_294	c.172_173insT	c.(172-174)gttfs	p.V58fs	CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.V58fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.V175fs|CMTM1_ENST00000379500.2_Frame_Shift_Ins_p.V175fs	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	58	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CTGCATTGTCGTTTTTTTTATT	0.347																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(523-525)tttfs		CKLF-like MARVEL transmembrane domain containing 1																																				SO:0001589	frameshift_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603929_66603930insT	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.180dupT	16.37:g.66603937_66603937dupT	ENSP00000405729:p.Val58fs					CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron	p.F175fs	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	590_591	+		Ovarian(137;0.0563)	58					Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Frame_Shift_Ins	INS	ENST00000457188.2	37	c.523_524insT	CCDS45503.1																																																																																				0.347	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		7	744						7	744	---	---	---	---	T	66603930	-	T	66603929	7	5	126	1	0	1	1	0	0	0	0	0	3591	1145	40	0	529	0	CMTM1	16	66603929	Frame_Shift_Ins	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08		66603929	23750824	64	39007											
EDC4	23644	broad.mit.edu	37	chr16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-													ccagcagcagcagcagcggtAgcagcagcagcagcagcagt							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	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.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		8	258						8	258	---	---	---	---	-	67913788	AGC	-	67913786	7	5	126	1	0	1	0	1	0	0	0	0	4924	420	15	0	1917	0	EDC4	16	67913786	In_Frame_Del	DEL	AGC	TCGA-Z5-AAPL-01A-12D-A40W-08	1309857	67913786	22440967	65	39008											
ZZEF1	23140	broad.mit.edu	37	chr17	3924509	3924509	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	gccagggctgctgactggccGttccacctcttcctctcggt	11	16	2	1	rs146431554		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:3924509G>A	ENST00000381638.2	-	45	7442	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2440							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						CTGACTGGCCGTTCCACCTCT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17393	0.0		0.001	False		,,,				2504	0.0					ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(7318-7320)Cgg>Tgg		zinc finger, ZZ-type with EF-hand domain 1		G	TRP/ARG	0,4406		0,0,2203	106	97	100		7318	2.8	0	17	dbSNP_134	100	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ZZEF1	NM_015113.3	101	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	2440/2962	3924509	7,12999	2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3924509G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7318C>T	17.37:g.3924509G>A	ENSP00000371051:p.Arg2440Trp						p.R2440W	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			45	7442	-			2440					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.7318C>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187617	0.21870	0.0	8.14E-4	ENSG00000074755	ENST00000381638	T	0.22134	1.97	4.83	2.78	0.32641	.	0.583037	0.17387	N	0.176079	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.32805	0.153	T	0.14254	-1.0479	10	0.72032	D	0.01	-4.6019	9.1743	0.37102	0.0:0.1522:0.562:0.2858	.	2440	O43149	ZZEF1_HUMAN	W	2440	ENSP00000371051:R2440W	ENSP00000371051:R2440W	R	-	1	2	ZZEF1	3871258	1.000000	0.71417	0.001000	0.08648	0.031000	0.12232	4.768000	0.62293	0.599000	0.29845	0.650000	0.86243	CGG		0.557	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	477	0	0	0	1	0	6	477					A	3924509	G	A	3924509	3	1	126	1	0	0	0	0	1	0	0	0	18308	1144	40	1	1611	1	ZZEF1	17	3924509	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		3924509	77270701	66	39009											
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	12	9	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"Mis, N, F"	tumor protein p53			"L, E, M, O"		"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"	"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133	104	114					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577566T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	266	0	0	0	1	0	11	266					C	7577566	T	C	7577566	3	2	126	1	0	0	0	0	1	0	0	0	16434	1754	61	4	575	4	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08	3653057	7577566	73617644	67	39010											
DNAH9	1770	broad.mit.edu	37	chr17	11687719	11687719	+	Missense_Mutation	SNP	G	G	T	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctcggaaacttcccgGcgtccctgcagaaatccatc	9	14	0	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:11687719G>T	ENST00000262442.4	+	41	7992	c.7924G>T	c.(7924-7926)Gcg>Tcg	p.A2642S	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACTTCCCGGCGTCCCTGCA	0.542																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(7924-7926)Gcg>Tcg		dynein, axonemal, heavy chain 9							175	168	170					17																	11687719		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687719G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7924G>T	17.37:g.11687719G>T	ENSP00000262442:p.Ala2642Ser					DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642S	p.A2642S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7992	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2642			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7924G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707583	0.03230	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.36699	1.24;1.24	5.56	0.768	0.18487	.	0.509864	0.20467	N	0.091774	T	0.12817	0.0311	N	0.04820	-0.15	0.09310	N	0.999996	B	0.06786	0.001	B	0.12156	0.007	T	0.25467	-1.0131	10	0.10902	T	0.67	.	4.329	0.11053	0.1421:0.1233:0.6074:0.1272	.	2642	Q9NYC9	DYH9_HUMAN	S	2642;2642;1224	ENSP00000262442:A2642S;ENSP00000414874:A2642S	ENSP00000262442:A2642S	A	+	1	0	DNAH9	11628444	0.149000	0.22717	0.002000	0.10522	0.000000	0.00434	2.179000	0.42528	0.694000	0.31654	-0.152000	0.13540	GCG		0.542	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	745	1	0	8.00594e-06	1	8.38417e-06	18	745					T	11687719	G	T	11687719	3	4	126	1	0	0	0	0	1	0	0	0	4624	1203	42	3	8086	3	DNAH9	17	11687719	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	4110153	11687719	69507491	68	39011											
ZNF207	7756	broad.mit.edu	37	chr17	30677314	30677316	+	In_Frame_Del	DEL	AAG	AAG	-													agaacacagttatgggtcgcAagaagaagaagcagctgaag							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:30677314_30677316delAAG	ENST00000321233.6	+	1	164_166	c.10_12delAAG	c.(10-12)aagdel	p.K7del	ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394670.4_In_Frame_Del_p.K7del	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	7	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATGGGTCGCAAGAAGAAGAAGC	0.542																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(10-12)del		zinc finger protein 207																																				SO:0001651	inframe_deletion	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30677314_30677316delAAG	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.10_12delAAG	17.37:g.30677323_30677325delAAG	ENSP00000322777:p.Lys7del					RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_In_Frame_Del_p.K7del|ZNF207_ENST00000341711.6_In_Frame_Del_p.K7del|ZNF207_ENST00000321233.6_In_Frame_Del_p.K7del|ZNF207_ENST00000342555.6_5'UTR|ZNF207_ENST00000394673.2_In_Frame_Del_p.K7del	p.K7del	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		1	179_181	+		Breast(31;0.116)|Ovarian(249;0.182)	7					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	In_Frame_Del	DEL	ENST00000321233.6	37	c.10_12delAAG	CCDS11271.1																																																																																				0.542	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			7	847						7	847	---	---	---	---	-	30677316	AAG	-	30677314	7	5	126	1	0	1	0	1	0	0	0	0	17818	131	5	0	12	0	ZNF207	17	30677314	In_Frame_Del	DEL	AAG	TCGA-Z5-AAPL-01A-12D-A40W-08	18989595	30677314	50517896	69	39012											
TMEM132E	124842	broad.mit.edu	37	chr17	32964522	32964523	+	Frame_Shift_Ins	INS	-	-	G													gccccagccaaccagggcccINSggcgggggcgaggacgaggc					rs372591686		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:32964522_32964523insG	ENST00000321639.5	+	10	2554_2555	c.2226_2227insG	c.(2227-2229)ggcfs	p.G743fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	743						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AACCAGGGCCCGGCGGGGGCGA	0.752																																						ENST00000321639.5																			0				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						c.(2224-2229)ccgcggfs		transmembrane protein 132E																																				SO:0001589	frameshift_variant	124842					integral to membrane		g.chr17:32964522_32964523insG	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.2228dupG	17.37:g.32964524_32964524dupG	ENSP00000316532:p.Gly743fs						p.R743fs	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2554_2555	+			743					Q8WUF4|Q8WVA5	Frame_Shift_Ins	INS	ENST00000321639.5	37	c.2226_2227insG	CCDS11283.1																																																																																				0.752	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		9	153						9	153	---	---	---	---	G	32964523	-	G	32964522	7	5	126	1	0	1	1	0	0	0	0	0	16100	639	23	0	2264	0	TMEM132E	17	32964522	Frame_Shift_Ins	INS	-	TCGA-Z5-AAPL-01A-12D-A40W-08	2287208	32964522	48230688	70	39013											
KRT26	353288	broad.mit.edu	37	chr17	38926606	38926606	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	1	1	0	1	0	0	0	cagttcatccaacactctgcGaagaccactggtgtcggcct	9	14	2	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:38926606G>A	ENST00000335552.4	-	3	628	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AACACTCTGCGAAGACCACTG	0.488																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(580-582)Cgc>Tgc		keratin 26							145	137	140					17																	38926606		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38926606G>A	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.580C>T	17.37:g.38926606G>A	ENSP00000334798:p.Arg194Cys						p.R194C	NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN			3	628	-		Breast(137;0.00526)	194			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000335552.4	37	c.580C>T	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664425	0.47572	.	.	ENSG00000186393	ENST00000335552	D	0.92545	-3.06	5.42	5.42	0.78866	Filament (1);	0.193938	0.37136	N	0.002236	D	0.96078	0.8722	M	0.82193	2.58	0.35379	D	0.789788	D	0.89917	1.0	D	0.85130	0.997	D	0.99215	1.0877	10	0.87932	D	0	.	15.037	0.71754	0.0:0.0:0.8576:0.1424	.	194	Q7Z3Y9	K1C26_HUMAN	C	194	ENSP00000334798:R194C	ENSP00000334798:R194C	R	-	1	0	KRT26	36180132	0.004000	0.15560	0.133000	0.22050	0.393000	0.30537	1.481000	0.35476	2.705000	0.92388	0.655000	0.94253	CGC		0.488	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		12	427	0	0	0	1	0	12	427					A	38926606	G	A	38926606	3	1	126	1	0	0	0	0	1	0	0	0	8493	1058	37	1	850	1	KRT26	17	38926606	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	5962084	38926606	42268604	71	39014											
PTRF	284119	broad.mit.edu	37	chr17	40557306	40557306	+	Missense_Mutation	SNP	C	C	G	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgcgtcctcctcgggcCgctcgccctcgcccagctcc	10	23	0	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr17:40557306C>G	ENST00000357037.5	-	2	991	c.572G>C	c.(571-573)cGg>cCg	p.R191P		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)		CTCCTCGGGCCGCTCGCCCTC	0.642																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(571-573)cGg>cCg		polymerase I and transcript release factor							81	87	85					17																	40557306		2203	4299	6502	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557306C>G	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.572G>C	17.37:g.40557306C>G	ENSP00000349541:p.Arg191Pro						p.R191P	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	991	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	191						Missense_Mutation	SNP	ENST00000357037.5	37	c.572G>C	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309923	0.23821	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.59083	0.29	5.35	3.16	0.36331	.	0.763946	0.12471	N	0.465970	T	0.37376	0.1001	N	0.14661	0.345	0.29558	N	0.850856	P;P	0.46952	0.887;0.755	B;B	0.43360	0.417;0.417	T	0.17992	-1.0351	10	0.32370	T	0.25	-26.2144	4.1299	0.10144	0.0:0.5917:0.0:0.4083	.	173;191	B4DNU9;Q6NZI2	.;PTRF_HUMAN	P	191;146	ENSP00000349541:R191P	ENSP00000349541:R191P	R	-	2	0	PTRF	37810832	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	2.269000	0.43346	1.260000	0.44134	0.446000	0.29264	CGG		0.642	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		12	760	0	0	0	1	0	12	760					G	40557306	C	G	40557306	3	3	126	1	0	0	0	0	1	0	0	0	12865	652	23	5	604	5	PTRF	17	40557306	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	1630700	40557306	40637904	72	39015											
LRRC30	339291	broad.mit.edu	37	chr18	7231720	7231720	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	gattttcttgcacgtgggctCgaatcgcctggaaaacatcg	11	10	1	0	rs374067933		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr18:7231720C>T	ENST00000383467.2	+	1	598	c.584C>T	c.(583-585)tCg>tTg	p.S195L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	195										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACGTGGGCTCGAATCGCCTG	0.537																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(583-585)tCg>tTg		leucine rich repeat containing 30							88	92	91					18																	7231720		2105	4242	6347	SO:0001583	missense	339291							g.chr18:7231720C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.584C>T	18.37:g.7231720C>T	ENSP00000372959:p.Ser195Leu						p.S195L	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	598	+			195						Missense_Mutation	SNP	ENST00000383467.2	37	c.584C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809700	0.50421	.	.	ENSG00000206422	ENST00000383467	T	0.25912	1.77	5.65	5.65	0.86999	.	0.097810	0.64402	D	0.000001	T	0.31702	0.0805	M	0.86740	2.835	0.40424	D	0.979872	D	0.59357	0.985	B	0.38106	0.265	T	0.43877	-0.9364	10	0.10902	T	0.67	.	16.3636	0.83296	0.0:0.8683:0.1317:0.0	.	195	A6NM36	LRC30_HUMAN	L	195	ENSP00000372959:S195L	ENSP00000372959:S195L	S	+	2	0	LRRC30	7221720	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	3.118000	0.50414	2.827000	0.97445	0.650000	0.86243	TCG		0.537	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		8	319	0	0	0	1	0	8	319					T	7231720	C	T	7231720	3	4	126	1	0	0	0	0	1	0	0	0	9023	893	31	1	586	1	LRRC30	18	7231720	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		7231720	70845528	73	39016											
DTNA	1837	broad.mit.edu	37	chr18	32374135	32374135	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	ttttttaccagctcaacaaaCggatgccaaccactcaccaa	4	14	2	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr18:32374135C>T	ENST00000399113.3	+	3	283	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	DTNA_ENST00000598774.1_Missense_Mutation_p.R95W|DTNA_ENST00000598334.1_Missense_Mutation_p.R95W|DTNA_ENST00000269191.6_Missense_Mutation_p.R95W|DTNA_ENST00000597599.1_Missense_Mutation_p.R95W|DTNA_ENST00000554864.3_Missense_Mutation_p.R95W|DTNA_ENST00000348997.5_Missense_Mutation_p.R95W|DTNA_ENST00000595022.1_Missense_Mutation_p.R95W|DTNA_ENST00000283365.9_Missense_Mutation_p.R95W|DTNA_ENST00000399121.5_Missense_Mutation_p.R95W|DTNA_ENST00000315456.6_Missense_Mutation_p.R95W|DTNA_ENST00000598142.1_Missense_Mutation_p.R95W|DTNA_ENST00000444659.1_Missense_Mutation_p.R95W|DTNA_ENST00000269190.7_Missense_Mutation_p.R95W|DTNA_ENST00000596745.1_Missense_Mutation_p.R95W|DTNA_ENST00000399097.3_5'UTR			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	95	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCTCAACAAACGGATGCCAAC	0.498																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(283-285)Cgg>Tgg		dystrobrevin, alpha							253	197	216					18																	32374135		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32374135C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.283C>T	18.37:g.32374135C>T	ENSP00000382064:p.Arg95Trp					DTNA_ENST00000348997.5_Missense_Mutation_p.R95W|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000315456.6_Missense_Mutation_p.R95W|DTNA_ENST00000269190.7_Missense_Mutation_p.R95W|DTNA_ENST00000269191.6_Missense_Mutation_p.R95W|DTNA_ENST00000399121.5_Missense_Mutation_p.R95W|DTNA_ENST00000598774.1_Missense_Mutation_p.R95W|DTNA_ENST00000399113.3_Missense_Mutation_p.R95W|DTNA_ENST00000597599.1_Missense_Mutation_p.R95W|DTNA_ENST00000598334.1_Missense_Mutation_p.R95W|DTNA_ENST00000595022.1_Missense_Mutation_p.R95W|DTNA_ENST00000444659.1_Missense_Mutation_p.R95W|DTNA_ENST00000598142.1_Missense_Mutation_p.R95W|DTNA_ENST00000596745.1_Missense_Mutation_p.R95W|DTNA_ENST00000554864.3_Missense_Mutation_p.R95W	p.R95W	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			5	634	+			95			Interaction with MAGEE1 (By similarity).		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.283C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247247	0.80024	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.43	2.35	0.29111	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.995;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.996;0.933;0.965;0.998;0.999;0.953;0.999;0.999;0.998;0.999;0.988;0.998	D	0.85817	0.1383	10	0.87932	D	0	-20.1745	13.365	0.60678	0.4429:0.5571:0.0:0.0	.	95;95;95;95;95;95;95;106;95;95;95;95	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	W	95	ENSP00000283365:R95W;ENSP00000322519:R95W;ENSP00000269190:R95W;ENSP00000336682:R95W;ENSP00000382072:R95W;ENSP00000405819:R95W;ENSP00000269191:R95W;ENSP00000382064:R95W	ENSP00000269190:R95W	R	+	1	2	DTNA	30628133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.601000	0.46249	0.699000	0.31761	0.563000	0.77884	CGG		0.498	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		12	365	0	0	0	1	0	12	365					T	32374135	C	T	32374135	3	4	126	1	0	0	0	0	1	0	0	0	4804	527	19	1	293	1	DTNA	18	32374135	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	25142415	32374135	45703113	74	39017											
EMR1	2015	broad.mit.edu	37	chr19	6896543	6896543	+	Nonsense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	acttcaaggatccaggagtgCgatgcaaaggtgagttcatg	13	7	2	1	rs202045997		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:6896543C>T	ENST00000312053.4	+	3	266	c.229C>T	c.(229-231)Cga>Tga	p.R77*	AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381404.4_Nonsense_Mutation_p.R77*|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000450315.3_Nonsense_Mutation_p.R77*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.R77*|EMR1_ENST00000381407.5_Nonsense_Mutation_p.R77*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	77	EGF-like 1. {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)					TCCAGGAGTGCGATGCAAAGG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19179	0.001		0.0	False		,,,				2504	0.0					ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(229-231)Cga>Tga		egf-like module containing, mucin-like, hormone receptor-like 1							126	92	104					19																	6896543		2203	4300	6503	SO:0001587	stop_gained	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6896543C>T	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.229C>T	19.37:g.6896543C>T	ENSP00000311545:p.Arg77*					EMR1_ENST00000381404.4_Nonsense_Mutation_p.R77*|EMR1_ENST00000450315.3_Nonsense_Mutation_p.R77*|EMR1_ENST00000381407.5_Nonsense_Mutation_p.R77*|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000250572.8_Nonsense_Mutation_p.R77*	p.R77*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			3	266	+	all_hematologic(4;0.166)		77			EGF-like 1.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Nonsense_Mutation	SNP	ENST00000312053.4	37	c.229C>T	CCDS12175.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.99	2.401597	0.42613	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	.	.	.	3.91	-4.95	0.03048	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	5.419	0.16390	0.5275:0.1535:0.319:0.0	.	.	.	.	X	77	.	ENSP00000250572:R77X	R	+	1	2	EMR1	6847543	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.033000	0.03571	-1.227000	0.02571	-1.146000	0.01853	CGA		0.488	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			5	185	0	0	0	1	0	5	185					T	6896543	C	T	6896543	4	4	126	1	0	0	0	0	0	1	0	0	5122	760	27	1	239	1	EMR1	19	6896543	Nonsense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		6896543	52232440	75	39018											
MCOLN1	57192	broad.mit.edu	37	chr19	7594053	7594053	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cgctgctggtgtgggtgggcGtgatccgctacctgaccttc	15	12	0	2			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:7594053G>A	ENST00000264079.6	+	10	1326	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	401					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						GTGGGTGGGCGTGATCCGCTA	0.572																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1201-1203)Gtg>Atg		mucolipin 1							108	98	101					19																	7594053		2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7594053G>A	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.1201G>A	19.37:g.7594053G>A	ENSP00000264079:p.Val401Met						p.V401M	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			10	1326	+			401					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.1201G>A	CCDS12180.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668544	0.88348	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.71934	-0.61	5.27	5.27	0.74061	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.69248	2.105	0.80722	D	1	D;D	0.69078	0.969;0.997	P;D	0.64237	0.713;0.923	T	0.82374	-0.0489	10	0.52906	T	0.07	.	16.364	0.83307	0.0:0.0:1.0:0.0	.	366;401	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	M	401;366	ENSP00000264079:V401M	ENSP00000264079:V401M	V	+	1	0	MCOLN1	7500053	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.473000	0.97714	2.459000	0.83118	0.561000	0.74099	GTG		0.572	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		6	268	0	0	0	1	0	6	268					A	7594053	G	A	7594053	3	1	126	1	0	0	0	0	1	0	0	0	9436	1145	40	1	1239	1	MCOLN1	19	7594053	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	697510	7594053	51534930	76	39019											
LDLR	3949	broad.mit.edu	37	chr19	11226801	11226801	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	ggactgactggggaactcccGccaagatcaagaaagggggc	15	10	1	3			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:11226801G>A	ENST00000558518.1	+	11	1805	c.1618G>A	c.(1618-1620)Gcc>Acc	p.A540T	LDLR_ENST00000455727.2_Missense_Mutation_p.A372T|LDLR_ENST00000558013.1_Missense_Mutation_p.A540T|LDLR_ENST00000557933.1_Missense_Mutation_p.A540T|LDLR_ENST00000545707.1_Missense_Mutation_p.A413T|LDLR_ENST00000535915.1_Missense_Mutation_p.A499T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	540					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)	GGGAACTCCCGCCAAGATCAA	0.567																																					GBM(18;201 575 7820 21545)	ENST00000558518.1																			1	Unknown(1)	p.?(1)	lung(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	GRCh37	CM983630|CM983631	LDLR	M		c.(1618-1620)Gcc>Acc		low density lipoprotein receptor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						103	94	97					19																	11226801		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11226801G>A	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.1618G>A	19.37:g.11226801G>A	ENSP00000454071:p.Ala540Thr					LDLR_ENST00000558013.1_Missense_Mutation_p.A540T|LDLR_ENST00000545707.1_Missense_Mutation_p.A413T|LDLR_ENST00000535915.1_Missense_Mutation_p.A499T|LDLR_ENST00000455727.2_Missense_Mutation_p.A372T|LDLR_ENST00000557933.1_Missense_Mutation_p.A540T	p.A540T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	11	1805	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	540					B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1618G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511214	0.64522	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.97811	-4.55;-4.55;-4.55	5.93	4.88	0.63580	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	D	0.000035	D	0.98985	0.9654	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;0.999;0.999;0.998;1.0	D	0.99437	1.0937	10	0.72032	D	0.01	.	16.0374	0.80640	0.0:0.135:0.865:0.0	.	372;413;419;499;552;540	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	T	540;413;499;372	ENSP00000437639:A413T;ENSP00000440520:A499T;ENSP00000397829:A372T	ENSP00000252444:A540T	A	+	1	0	LDLR	11087801	1.000000	0.71417	0.876000	0.34364	0.012000	0.07955	7.353000	0.79414	1.502000	0.48669	-0.323000	0.08544	GCC		0.567	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			6	416	0	0	0	1	0	6	416					A	11226801	G	A	11226801	3	1	126	1	0	0	0	0	1	0	0	0	8735	1087	38	1	1660	1	LDLR	19	11226801	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	3632748	11226801	47902182	77	39020											
CCDC130	81576	broad.mit.edu	37	chr19	13873132	13873134	+	In_Frame_Del	DEL	AGG	AGG	-													ggaaaagaaaaaagccatccAggaggaggaggagagagacc					rs148655062		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:13873132_13873134delAGG	ENST00000586600.1	+	10	1096_1098	c.593_595delAGG	c.(592-597)caggag>cag	p.E202del	CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000221554.8_In_Frame_Del_p.E202del|MRI1_ENST00000319545.8_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	202					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)			AAAGCCATCCAGGAGGAGGAGGA	0.586																																						ENST00000586600.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(592-597)cag>c		coiled-coil domain containing 130																																				SO:0001651	inframe_deletion	81576				response to virus		protein binding	g.chr19:13873132_13873134delAGG	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.593_595delAGG	19.37:g.13873141_13873143delAGG	ENSP00000465776:p.Glu202del					CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_In_Frame_Del_p.QE198del	p.QE198del			P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		10	1096_1098	+			198					Q9BQ72	In_Frame_Del	DEL	ENST00000586600.1	37	c.593_595delAGG	CCDS12296.1																																																																																				0.586	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2	NM_030818		7	554						7	554	---	---	---	---	-	13873134	AGG	-	13873132	7	5	126	1	0	1	0	1	0	0	0	0	2773	188	7	0	623	0	CCDC130	19	13873132	In_Frame_Del	DEL	AGG	TCGA-Z5-AAPL-01A-12D-A40W-08	2646331	13873132	45255851	78	39021											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-													ccctgcagcaaagcctccatCtcctcctcctcctccctcag					rs370252048		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									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)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						ENST00000544099.1																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15						c.(637-642)atc>at		chromosome 19 open reading frame 55				30,4128		11,8,2060						2	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del					C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del	p.IS213del			Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	702_704	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		213			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2			9	1200						9	1200	---	---	---	---	-	36255949	CTC	-	36255947	7	5	126	1	0	1	0	1	0	0	0	0	1944	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-Z5-AAPL-01A-12D-A40W-08	22382815	36255947	22873036	79	39022											
ZNF551	90233	broad.mit.edu	37	chr19	58198939	58198939	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aaatcttttagctgcaaatcGgaactcattcaacaccagag	6	10	3	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr19:58198939G>A	ENST00000282296.5	+	3	1481	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.S416S|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	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)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTGCAAATCGGAACTCATTC	0.403																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1294-1296)tcG>tcA		zinc finger protein 551							88	95	92					19																	58198939		2203	4300	6503	SO:0001819	synonymous_variant	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58198939G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1296G>A	19.37:g.58198939G>A						AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.S416S|AC003006.7_ENST00000599221.1_Intron	p.S432S	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1481	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	432					B4DU22|P17034|Q8N246|Q9BRY1	Silent	SNP	ENST00000282296.5	37	c.1296G>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	53	20.397692	0.99930	.	.	ENSG00000228006	ENST00000541705	.	.	.	2.49	-4.97	0.03029	.	2.210060	0.04710	U	0.417524	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	2.1682	0.03843	0.3344:0.3982:0.1041:0.1633	.	.	.	.	X	156	.	ENSP00000437781:R156X	R	-	1	2	AC004017.1	62890751	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.644000	0.00107	-2.561000	0.00473	-2.070000	0.00385	CGA		0.403	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		14	534	0	0	0	1	0	14	534					A	58198939	G	A	58198939	2	1	126	1	0	0	0	0	0	0	0	1	18036	1103	39	1		1	ZNF551	19	58198939	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	21942992	58198939	930044	80	39023											
DIDO1	11083	broad.mit.edu	37	chr20	61513415	61513415	+	Missense_Mutation	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	aagcggtggaggaagctgccGtggaggctgccgctgctgtt	18	9	0	0	rs558826220	byFrequency	TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr20:61513415G>A	ENST00000266070.4	-	16	4218	c.3893C>T	c.(3892-3894)aCg>aTg	p.T1298M	DIDO1_ENST00000395343.1_Missense_Mutation_p.T1298M	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1298					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)					GGAAGCTGCCGTGGAGGCTGC	0.587													G|||	3	0.000599042	0.0	0.0	5008	,	,		15342	0.0		0.0	False		,,,				2504	0.0031				Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(3892-3894)aCg>aTg		death inducer-obliterator 1							68	75	73					20																	61513415		2203	4297	6500	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513415G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3893C>T	20.37:g.61513415G>A	ENSP00000266070:p.Thr1298Met					DIDO1_ENST00000395343.1_Missense_Mutation_p.T1298M	p.T1298M	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4218	-	Breast(26;5.68e-08)		1298					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3893C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816445	0.50527	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	5.1	-5.01	0.02991	.	1.157060	0.06652	N	0.762887	T	0.05547	0.0146	L	0.44542	1.39	0.09310	N	1	D	0.55385	0.971	B	0.32805	0.153	T	0.39623	-0.9605	10	0.48119	T	0.1	-4.5123	8.9622	0.35854	0.3154:0.4322:0.2523:0.0	.	1298	Q9BTC0	DIDO1_HUMAN	M	1298	ENSP00000266070:T1298M;ENSP00000378752:T1298M	ENSP00000266070:T1298M	T	-	2	0	DIDO1	60983860	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.961000	0.03845	-0.878000	0.04007	-0.253000	0.11424	ACG		0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		32	500	0	0	0	1	0	32	500					A	61513415	G	A	61513415	3	1	126	1	0	0	0	0	1	0	0	0	4538	1145	40	1	2833	1	DIDO1	20	61513415	Missense_Mutation	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08		61513415	1512105	81	39024											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253584	32253584	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	1	0	1	0	1	0	0	0	tggaaatacaggtagtttgtCgagagcaagtcacctggcaa	12	7	1	1	rs368602449		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chr21:32253584C>T	ENST00000332378.4	-	1	290	c.260G>A	c.(259-261)cGa>cAa	p.R87Q		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	87						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R87P(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGTAGTTTGTCGAGAGCAAGT	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19865	0.0		0.001	False		,,,				2504	0.0					ENST00000332378.4																			3	Substitution - Missense(3)	p.R87P(3)	lung(3)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(259-261)cGa>cAa		keratin associated protein 11-1		C	GLN/ARG	0,4406		0,0,2203	88	83	85		260	3.4	0.1	21		85	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRTAP11-1	NM_175858.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	87/164	32253584	1,13005	2203	4300	6503	SO:0001583	missense	0					keratin filament	structural molecule activity	g.chr21:32253584C>T	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.260G>A	21.37:g.32253584C>T	ENSP00000330720:p.Arg87Gln						p.R87Q	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	290	-			87					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.260G>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220423	0.58560	0.0	1.16E-4	ENSG00000182591	ENST00000332378	T	0.03272	3.99	5.4	3.44	0.39384	.	0.155844	0.40222	N	0.001147	T	0.12561	0.0305	M	0.83118	2.625	0.09310	N	1	D	0.63880	0.993	P	0.55260	0.772	T	0.21280	-1.0250	10	0.15952	T	0.53	-4.064	14.4357	0.67279	0.0:0.7222:0.2778:0.0	.	87	Q8IUC1	KR111_HUMAN	Q	87	ENSP00000330720:R87Q	ENSP00000330720:R87Q	R	-	2	0	KRTAP11-1	31175455	0.328000	0.24687	0.105000	0.21289	0.909000	0.53808	1.165000	0.31822	1.398000	0.46701	0.650000	0.86243	CGA		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			5	227	0	0	0	1	0	5	227					T	32253584	C	T	32253584	3	4	126	1	0	0	0	0	1	0	0	0	8547	884	31	1	235	1	KRTAP11-1	21	32253584	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08		32253584	15876311	82	39025											
TXLNG	55787	broad.mit.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-													agaagctgatgaaaaacatcAgagagagagagagtttgtaa							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		8	417						8	417	---	---	---	---	-	16850850	AG	-	16850849	7	5	126	1	0	1	0	1	0	0	0	0	16843	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-Z5-AAPL-01A-12D-A40W-08		16850849	138419711	83	39026											
SPIN2B	474343	broad.mit.edu	37	chrX	57146293	57146293	+	Missense_Mutation	SNP	T	T	G	0	0	0	0	0	0	0	0	0	0	0	0	tttaccctaacagttaggacTttttcaccaaatcgtagaca	5	10	1	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:57146293T>G	ENST00000333933.3	-	2	1080	c.770A>C	c.(769-771)aAg>aCg	p.K257T	SPIN2B_ENST00000275988.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000374910.3_Missense_Mutation_p.K156T|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374912.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000460948.1_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	257					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						CAGTTAGGACTTTTTCACCAA	0.368																																						ENST00000333933.3																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(769-771)aAg>aCg		spindlin family, member 2B							34	31	32					X																	57146293		2201	4295	6496	SO:0001583	missense	474343				apoptosis|cell cycle|gamete generation	nucleus		g.chrX:57146293T>G	AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.770A>C	X.37:g.57146293T>G	ENSP00000335008:p.Lys257Thr					SPIN2B_ENST00000374910.3_Missense_Mutation_p.K156T|SPIN2B_ENST00000275988.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000374912.5_Missense_Mutation_p.K257T|SPIN2B_ENST00000460948.1_Intron	p.K257T	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN			2	1080	-			257					Q7Z2M0	Missense_Mutation	SNP	ENST00000333933.3	37	c.770A>C	CCDS35311.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.168787	0.00315	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000374910;ENST00000333933	T;T;T;T	0.47528	0.89;0.89;0.84;0.89	2.42	1.17	0.20885	.	0.157221	0.41500	D	0.000871	T	0.12305	0.0299	N	0.00926	-1.1	0.27097	N	0.962701	B	0.02656	0.0	B	0.01281	0.0	T	0.22243	-1.0222	10	0.07813	T	0.8	-1.1526	2.8319	0.05503	0.2596:0.0:0.2624:0.478	.	257	Q9BPZ2	SPI2B_HUMAN	T	257;257;156;257	ENSP00000275988:K257T;ENSP00000364047:K257T;ENSP00000364045:K156T;ENSP00000335008:K257T	ENSP00000275988:K257T	K	-	2	0	SPIN2B	57163018	1.000000	0.71417	0.920000	0.36463	0.473000	0.32948	4.655000	0.61476	0.241000	0.21283	0.143000	0.16000	AAG		0.368	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056912.1	NM_001006681		8	346	0	0	0	1	0	8	346					G	57146293	T	G	57146293	3	3	126	1	0	0	0	0	1	0	0	0	15106	1609	56	4	10	4	SPIN2B	23	57146293	Missense_Mutation	SNP	T	TCGA-Z5-AAPL-01A-12D-A40W-08	40295444	57146293	98124267	84	39027											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-													ctgaagaagaagatgaagagGaagaagaagaagaagatgaa					rs374572591		TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:110406206_110406208delGAA	ENST00000372010.1	+	10	1019_1021	c.577_579delGAA	c.(577-579)gaadel	p.E197del	PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000519681.1_In_Frame_Del_p.E203del|PAK3_ENST00000372007.5_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				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						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(595-597)del		p21 protein (Cdc42/Rac)-activated kinase 3																																				SO:0001651	inframe_deletion	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406206_110406208delGAA	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.577_579delGAA	X.37:g.110406215_110406217delGAA	ENSP00000361080:p.Glu197del	TSP Lung(19;0.15)				PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del	p.E203del			O75914	PAK3_HUMAN			10	1037_1039	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	In_Frame_Del	DEL	ENST00000372010.1	37	c.595_597delGAA	CCDS48153.1																																																																																				0.394	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		10	614						10	614	---	---	---	---	-	110406208	GAA	-	110406206	7	5	126	1	0	1	0	1	0	0	0	0	11444	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-Z5-AAPL-01A-12D-A40W-08	53259913	110406206	44864354	85	39028											
CAPN6	827	broad.mit.edu	37	chrX	110494891	110494891	+	Missense_Mutation	SNP	C	C	T	0	1	0	0	0	0	0	0	0	0	0	0	tctctccaagacgaattttgCgaatatcagtcatggtatag	8	8	3	1			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:110494891C>T	ENST00000324068.1	-	6	946	c.779G>A	c.(778-780)cGc>cAc	p.R260H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R5H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	260	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						ACGAATTTTGCGAATATCAGT	0.468																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(778-780)cGc>cAc		calpain 6							288	284	285					X																	110494891		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494891C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.779G>A	X.37:g.110494891C>T	ENSP00000317214:p.Arg260His					CAPN6_ENST00000541758.1_Missense_Mutation_p.R5H	p.R260H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			6	946	-			260			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.779G>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213497	0.79352	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.88431	-2.28;-2.38	6.17	6.17	0.99709	Peptidase C2, calpain, catalytic domain (3);	0.097898	0.64402	D	0.000002	D	0.93304	0.7866	M	0.78801	2.425	0.39563	D	0.96915	D	0.89917	1.0	D	0.80764	0.994	D	0.93717	0.7029	10	0.66056	D	0.02	.	8.772	0.34737	0.151:0.7736:0.0:0.0754	.	260	Q9Y6Q1	CAN6_HUMAN	H	260;5	ENSP00000317214:R260H;ENSP00000441736:R5H	ENSP00000317214:R260H	R	-	2	0	CAPN6	110381547	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	1.806000	0.38892	2.618000	0.88619	0.600000	0.82982	CGC		0.468	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			10	1536	0	0	0	1	0	10	1536					T	110494891	C	T	110494891	3	4	126	1	0	0	0	0	1	0	0	0	2637	768	27	1	1178	1	CAPN6	23	110494891	Missense_Mutation	SNP	C	TCGA-Z5-AAPL-01A-12D-A40W-08	88685	110494891	44775669	86	39029											
CUL4B	8450	broad.mit.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-													ttgcagcagttggtgaagatGaggaggaggaggaggaggat							TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	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.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		8	323						8	323	---	---	---	---	-	119694119	GAG	-	119694117	7	5	126	1	0	1	0	1	0	0	0	0	4069	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-Z5-AAPL-01A-12D-A40W-08	9199226	119694117	35576443	87	39030											
GPC3	2719	broad.mit.edu	37	chrX	132730547	132730547	+	Silent	SNP	G	G	A	1	0	0	0	0	0	0	0	0	0	0	0	cactcatcttcatcatcaccGcagtctccactttcaaaccc	2	18	7	0			TCGA-Z5-AAPL-01A-12D-A40W-08	TCGA-Z5-AAPL-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae17a1a1-399d-49a2-87da-1d577ce08d01	315533eb-4d79-48c5-956f-a9f82b36d5b8	g.chrX:132730547G>A	ENST00000370818.3	-	7	1939	c.1494C>T	c.(1492-1494)tgC>tgT	p.C498C	GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	498					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CATCATCACCGCAGTCTCCAC	0.463			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"T, D, Mis, N, F, S"	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(1492-1494)tgC>tgT		glypican 3							243	206	218					X																	132730547		2203	4300	6503	SO:0001819	synonymous_variant	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132730547G>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1494C>T	X.37:g.132730547G>A						GPC3_ENST00000394299.2_Silent_p.C521C|GPC3_ENST00000543339.1_Silent_p.C444C	p.C498C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			7	1939	-	Acute lymphoblastic leukemia(192;0.000127)		498					C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	c.1494C>T	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	2.995	-0.207259	0.06180	.	.	ENSG00000147257	ENST00000406757	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.72803	0.3506	.	.	.	0.48040	D	0.999576	.	.	.	.	.	.	T	0.82566	-0.0393	4	.	.	.	.	22.4363	0.99971	0.2327:0.0:0.7673:0.0	.	.	.	.	V	228	.	.	A	-	2	0	GPC3	132558213	0.000000	0.05858	0.008000	0.14137	0.665000	0.39181	-3.320000	0.00513	-3.839000	0.00100	-1.679000	0.00737	GCG		0.463	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		7	740	0	0	0	1	0	7	740					A	132730547	G	A	132730547	2	1	126	1	0	0	0	0	0	0	0	1	6628	1079	38	1		1	GPC3	23	132730547	Silent	SNP	G	TCGA-Z5-AAPL-01A-12D-A40W-08	13036430	132730547	22540013	88	39031											
